### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = ABCA4)
# charset = UTF-8
## Genes ## Do not remove or alter this header ##
## Count = 1
"{{id}}" "{{name}}" "{{chromosome}}" "{{chrom_band}}" "{{imprinting}}" "{{refseq_genomic}}" "{{refseq_UD}}" "{{reference}}" "{{url_homepage}}" "{{url_external}}" "{{allow_download}}" "{{id_hgnc}}" "{{id_entrez}}" "{{id_omim}}" "{{show_hgmd}}" "{{show_genecards}}" "{{show_genetests}}" "{{show_orphanet}}" "{{note_index}}" "{{note_listing}}" "{{refseq}}" "{{refseq_url}}" "{{disclaimer}}" "{{disclaimer_text}}" "{{header}}" "{{header_align}}" "{{footer}}" "{{footer_align}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{updated_by}}" "{{updated_date}}"
"ABCA4" "ATP-binding cassette, sub-family A (ABC1), member 4" "1" "p22" "unknown" "NG_009073.2" "UD_132118220171" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "https://www.LOVD.nl/ABCA4" "" "1" "34" "24" "601691" "1" "1" "1" "1" "This database is one of the \"Eye disease\" gene variant databases, currently supported by the\r\n
![](\"gfx/FFB_logo.png\")
![](\"gfx/FFB_donate.png\")
\r\nWe gratefully acknowledge the efforts of Frans Cremers in initiating the ABCA4 gene variant database, and his work as curator from the start to 2023.\r\nThe work leading to the establishment of this database was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project." "" "g" "http://databases.lovd.nl/shared/refseq/ABCA4_NM_000350.2_codingDNA.html" "1" "" "
The expert classification of the variants can be found here.
\r\nTo other Inherited Retinal Disease gene variant database:" "-1" "" "-1" "00001" "2010-04-29 00:00:00" "00006" "2024-09-27 14:58:12" "00000" "2025-11-01 13:22:20"
## Transcripts ## Do not remove or alter this header ##
## Count = 1
"{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}"
"00001847" "ABCA4" "ATP-binding cassette, sub-family A (ABC1), member 4" "001" "NM_000350.2" "" "NP_000341.2" "" "" "" "-104" "7222" "6822" "94586705" "94458393" "" "0000-00-00 00:00:00" "" ""
## Diseases ## Do not remove or alter this header ##
## Count = 26
"{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}"
"00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" ""
"00028" "CILD15" "dyskinesia, ciliary, primary, type 15 (CILD-15)" "" "613808" "" "" "" "00008" "2012-08-20 12:34:48" "00006" "2021-12-10 21:51:32"
"00057" "MSUD1A" "maple syrup urine disease, type Ia" "AR" "248600" "" "" "" "00006" "2012-09-21 17:10:19" "00006" "2024-05-25 09:39:48"
"00058" "CORD" "dystrophy, cone-rod (CORD)" "" "" "" "" "" "00006" "2012-09-22 11:31:25" "00006" "2020-08-30 09:43:59"
"00112" "RP" "retinitis pigmentosa (RP)" "" "268000" "" "" "" "00001" "2013-02-21 17:12:36" "00006" "2021-01-18 09:53:26"
"00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12"
"00347" "ARMD" "macular degeneration, age-related (ARMD)" "" "" "" "" "" "00006" "2014-03-13 09:53:17" "00006" "2015-12-08 23:59:30"
"00381" "RD" "dystrophy, retinal (RD)" "" "" "" "" "" "00006" "2014-05-09 11:59:52" "00006" "2015-12-07 07:11:25"
"00420" "STGD1" "Stargardt disease, type 1 (STGD1)" "AR" "248200" "" "" "" "00006" "2014-06-16 23:00:12" "00006" "2020-11-19 10:59:15"
"00421" "CORD3" "dystrophy, cone rod, type 3 (CORD-3)" "" "604116" "" "" "" "00006" "2014-06-16 23:03:53" "00006" "2021-12-10 21:51:32"
"01425" "ARMD2" "macular degeneration, age-related, type 2 (ARMD-2)" "AD" "153800" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32"
"02156" "-" "retinitis pigmentosa, X-linked, and sinorespiratory infections, with/without deafness" "" "300455" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32"
"02387" "RP19" "retinitis pigmentosa, type 19 (RP19)" "AR" "601718" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32"
"03450" "LCA6" "Leber congenital amaurosis, type 6 (LCA-6)" "AR" "613826" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32"
"03946" "RP82" "retinitis pigmentosa, with/without situs inversus (RP82)" "AR" "615434" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2019-12-17 16:21:56"
"04210" "LCA" "Leber congenital amaurosis (LCA)" "" "" "" "" "" "00006" "2015-02-27 18:57:11" "" ""
"04211" "RPar" "retinitis pigmentosa, autosomal recessive (RPar)" "" "" "" "" "" "00006" "2015-02-27 18:58:57" "" ""
"04213" "COD" "dystrophy, cone (COD)" "" "" "" "" "" "00006" "2015-02-27 19:22:18" "" ""
"04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26"
"04215" "STGD" "Stargardt disease (STGD)" "" "" "" "" "" "00006" "2015-02-27 20:01:12" "" ""
"04249" "macular dystrophy" "dystrophy, macular" "" "" "" "" "" "00006" "2015-05-04 22:10:58" "00006" "2024-02-15 21:18:39"
"05121" "MD" "dystrophy, muscular (MD)" "" "" "" "" "" "00006" "2016-01-24 01:27:29" "" ""
"05412" "maculopathy" "maculopathy" "" "" "" "" "" "00006" "2018-03-23 12:21:26" "" ""
"05415" "USH" "Usher syndrome (USH)" "" "" "" "" "" "00006" "2018-04-02 16:40:44" "" ""
"05586" "OFC" "cleft, orofacial (OFC)" "" "" "" "" "" "00006" "2019-03-29 16:06:15" "" ""
"06495" "RLSDF" "Rhizomelic limb shortening with dysmorphic features" "AR" "618821" "" "" "" "00006" "2021-12-10 23:20:41" "" ""
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 5
"{{geneid}}" "{{diseaseid}}"
"ABCA4" "00347"
"ABCA4" "00420"
"ABCA4" "00421"
"ABCA4" "01425"
"ABCA4" "02387"
## Individuals ## Do not remove or alter this header ##
## Count = 18628
"{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}"
"00000232" "" "" "" "1" "" "00041" "{PMID:Antony 2013:23255504}" "2-generation family, 1 affected, unaffected parents" "" "" "United States" "" "0" "" "" "" "UNC533"
"00000234" "" "" "" "1" "" "00041" "2-generation family, 1 affected, unaffected parents" "{PMID:Antony 2013:23255504}" "" "" "United States" "" "0" "" "" "" "UNC660"
"00001791" "" "" "" "1" "" "00102" "" "" "" "" "(United States)" "" "0" "" "" "" ""
"00001809" "" "" "" "1" "" "00102" "" "" "" "" "(United States)" "" "0" "" "" "" ""
"00016603" "" "" "" "1" "" "00552" "" "" "" "" "" "" "0" "" "" "" ""
"00016614" "" "" "" "1" "" "00552" "" "" "" "" "" "" "0" "" "" "" ""
"00016862" "" "" "" "1" "" "00717" "{PMID:Zernant 2014:25066811}" "" "" "" "United States" "" "0" "" "" "African American" ""
"00016863" "" "" "" "1" "" "00717" "{PMID:Zernant 2014:25066811}" "" "" "" "United States" "" "0" "" "" "African American" ""
"00016864" "" "" "" "1" "" "00717" "{PMID:Zernant 2014:25066811}" "" "" "" "United States" "" "0" "" "" "African American" ""
"00016865" "" "" "" "1" "" "00717" "{PMID:Zernant 2014:25066811}" "" "" "" "United States" "" "0" "" "" "African American" ""
"00016866" "" "" "" "1" "" "00717" "{PMID:Zernant 2014:25066811}" "" "" "" "United States" "" "0" "" "" "African American" ""
"00016867" "" "" "" "1" "" "00717" "{PMID:Zernant 2014:25066811}" "" "" "" "United States" "" "0" "" "" "African American" ""
"00016868" "" "" "" "1" "" "00717" "{PMID:Zernant 2014:25066811}" "" "" "" "United States" "" "0" "" "" "African American" ""
"00016869" "" "" "" "1" "" "00717" "{PMID:Zernant 2014:25066811}" "" "" "" "United States" "" "0" "" "" "African American" ""
"00016870" "" "" "" "1" "" "00717" "{PMID:Zernant 2014:25066811}" "" "" "" "United States" "" "0" "" "" "African American" ""
"00016871" "" "" "" "1" "" "00717" "{PMID:Zernant 2014:25066811}" "" "" "" "United States" "" "0" "" "" "African American" ""
"00016872" "" "" "" "1" "" "00717" "{PMID:Zernant 2014:25066811}" "" "" "" "United States" "" "0" "" "" "African American" ""
"00016873" "" "" "" "1" "" "00717" "{PMID:Zernant 2014:25066811}" "" "" "" "United States" "" "0" "" "" "African American" ""
"00016875" "" "" "" "1" "" "00717" "{PMID:Zernant 2014:25066811}" "" "" "" "United States" "" "0" "" "" "African American" ""
"00016876" "" "" "" "1" "" "00717" "{PMID:Zernant 2014:25066811}" "" "" "" "United States" "" "0" "" "" "African American" ""
"00016877" "" "" "" "1" "" "00717" "{PMID:Zernant 2014:25066811}" "" "" "" "United States" "" "0" "" "" "African American" ""
"00016878" "" "" "" "1" "" "00717" "{PMID:Zernant 2014:25066811}" "" "" "" "United States" "" "0" "" "" "African American" ""
"00016879" "" "" "" "1" "" "00717" "{PMID:Zernant 2014:25066811}" "" "" "" "United States" "" "0" "" "" "African American" ""
"00016892" "" "" "" "1" "" "00717" "{PMID:Zernant 2014:25066811}" "" "" "" "United States" "" "0" "" "" "African American" ""
"00016893" "" "" "" "1" "" "00717" "{PMID:Zernant 2014:25066811}" "" "" "" "United States" "" "0" "" "" "African American" ""
"00016894" "" "" "" "1" "" "00717" "{PMID:Zernant 2014:25066811}" "" "" "" "United States" "" "0" "" "" "African American" ""
"00016895" "" "" "" "1" "" "00717" "{PMID:Zernant 2014:25066811}" "" "" "" "United States" "" "0" "" "" "African American" ""
"00016896" "" "" "" "1" "" "00717" "{PMID:Zernant 2014:25066811}" "" "" "" "United States" "" "0" "" "" "African American" ""
"00016897" "" "" "" "1" "" "00717" "{PMID:Zernant 2014:25066811}" "" "" "" "United States" "" "0" "" "" "African American" ""
"00016898" "" "" "" "1" "" "00717" "{PMID:Zernant 2014:25066811}" "" "" "" "United States" "" "0" "" "" "African American" ""
"00016899" "" "" "" "1" "" "00717" "{PMID:Zernant 2014:25066811}" "" "" "" "United States" "" "0" "" "" "African American" ""
"00016900" "" "" "" "1" "" "00717" "{PMID:Zernant 2014:25066811}" "" "" "" "United States" "" "0" "" "" "African American" ""
"00016901" "" "" "" "1" "" "00717" "{PMID:Zernant 2014:25066811}" "" "" "" "United States" "" "0" "" "" "African American" ""
"00016902" "" "" "" "1" "" "00717" "{PMID:Zernant 2014:25066811}" "" "" "" "United States" "" "0" "" "" "African American" ""
"00016904" "" "" "" "1" "" "00717" "{PMID:Zernant 2014:25066811}" "" "" "" "United States" "" "0" "" "" "African American" ""
"00016905" "" "" "" "1" "" "00717" "{PMID:Zernant 2014:25066811}" "" "" "" "United States" "" "0" "" "" "African American" ""
"00016906" "" "" "" "1" "" "00717" "{PMID:Zernant 2014:25066811}" "" "" "" "United States" "" "0" "" "" "African American" ""
"00016907" "" "" "" "1" "" "00717" "{PMID:Zernant 2014:25066811}" "" "" "" "United States" "" "0" "" "" "African American" ""
"00016908" "" "" "" "1" "" "00717" "{PMID:Zernant 2014:25066811}" "" "" "" "United States" "" "0" "" "" "African American" ""
"00016909" "" "" "" "1" "" "00717" "{PMID:Zernant 2014:25066811}" "" "" "" "United States" "" "0" "" "" "African American" ""
"00016910" "" "" "" "1" "" "00717" "{PMID:Zernant 2014:25066811}" "" "" "" "United States" "" "0" "" "" "African American" ""
"00016911" "" "" "" "1" "" "00717" "{PMID:Zernant 2014:25066811}" "" "" "" "United States" "" "0" "" "" "African American" ""
"00016912" "" "" "" "1" "" "00717" "{PMID:Zernant 2014:25066811}" "" "" "" "United States" "" "0" "" "" "African American" ""
"00016913" "" "" "" "1" "" "00717" "{PMID:Zernant 2014:25066811}" "" "" "" "United States" "" "0" "" "" "African American" ""
"00016915" "" "" "" "1" "" "00717" "{PMID:Zernant 2014:25066811}" "" "" "" "United States" "" "0" "" "" "African American" ""
"00016917" "" "" "" "1" "" "00717" "{PMID:Zernant 2014:25066811}" "" "" "" "United States" "" "0" "" "" "African American" ""
"00016918" "" "" "" "1" "" "00717" "{PMID:Zernant 2014:25066811}" "" "" "" "United States" "" "0" "" "" "African American" ""
"00033087" "" "" "" "1" "" "00229" "" "" "F" "" "" "" "0" "" "" "" ""
"00033093" "" "" "" "1" "" "00229" "" "" "M" "" "" "" "0" "" "" "" ""
"00033124" "" "" "" "1" "" "00229" "" "" "F" "" "" "" "0" "" "" "" ""
"00033130" "" "" "" "1" "" "00229" "" "" "M" "" "" "" "0" "" "" "" ""
"00033132" "" "" "" "1" "" "00229" "{PMID:Neveling 2012:22334370}" "" "M" "no" "" "" "0" "" "" "" ""
"00033137" "" "" "" "1" "" "00229" "" "" "F" "" "" "" "0" "" "" "" ""
"00033152" "" "" "" "1" "" "00229" "" "" "M" "" "" "" "0" "" "" "" ""
"00033153" "" "" "" "1" "" "00229" "" "" "M" "" "" "" "0" "" "" "" ""
"00033342" "" "" "" "1" "" "00039" "{PMID:Abu-Safieh-2013:23105016}" "" "" "" "" "" "0" "" "" "" ""
"00033638" "" "" "" "23" "" "01245" "{PMID:Bauwens 2014:25346251}" "family, 1 patient" "M" "no" "Belgium" "" "0" "" "" "Belgian" ""
"00033639" "" "" "" "1" "" "01245" "{PMID:Bauwens 2014:25346251}" "" "F" "no" "Belgium" "" "0" "" "" "Belgian" ""
"00033640" "" "" "" "1" "" "01245" "{PMID:Bauwens 2014:25346251}" "" "F" "no" "" "" "0" "" "" "Arab" ""
"00033641" "" "" "" "1" "" "01245" "{PMID:Bauwens 2014:25346251}" "" "M" "no" "Turkey" "" "0" "" "" "Turkish" ""
"00033642" "" "" "" "2" "" "01245" "{PMID:Bauwens 2014:25346251}" "2-generation family, 2 cases, F1II4" "F" "no" "Belgium" "" "0" "" "" "Belgian" ""
"00033643" "" "" "" "1" "" "00006" "{PMID:Braun 2013:23918662}" "3-generation family, 1 affected, unaffected carrier parents/children" "F" "no" "United States" "" "0" "" "" "" ""
"00033644" "" "" "" "1" "" "00006" "{PMID:Braun 2013:23918662}" "2-generation family, 1 affected, unaffected carrier parents" "F" "no" "United States" "" "0" "" "" "" ""
"00033645" "" "" "" "1" "" "00006" "{PMID:Braun 2013:23918662}" "3-generation family, 1 affected, unaffected carrier parents/children" "F" "no" "United States" "" "0" "" "" "" ""
"00033646" "" "" "" "2" "" "00006" "{PMID:Braun 2013:23918662}, {PMID:Schindler 2010:20647261}" "2-generation family, 2 affecteds, unaffected carrier parent/sibs" "-" "no" "United States" "" "0" "" "" "" ""
"00033647" "" "" "" "2" "" "00006" "{PMID:Braun 2013:23918662}" "2-generation family, 2 affecteds, unaffected carrier parent/sibs" "-" "no" "United States" "" "0" "" "" "" ""
"00033648" "" "" "" "1" "" "00006" "{PMID:Braun 2013:23918662}" "2-generation family, 1 affected" "M" "no" "United States" "" "0" "" "" "" ""
"00033649" "" "" "" "1" "" "00006" "{PMID:Braun 2013:23918662}" "2-generation family, 1 affected, unaffected carrier parents" "F" "no" "United States" "" "0" "" "" "" ""
"00033650" "" "" "" "1" "" "00006" "{PMID:Braun 2013:23918662}" "2-generation family, 1 affected, unaffected carrier parents" "F" "no" "United States" "" "0" "" "" "" ""
"00033651" "" "" "" "1" "" "00006" "{PMID:Braun 2013:23918662}" "2-generation family, 1 affected, unaffected carrier sibs" "M" "no" "United States" "" "0" "" "" "" ""
"00033652" "" "" "" "1" "" "00006" "{PMID:Braun 2013:23918662}" "2-generation family, 1 affected, unaffected carrier parents/sib" "F" "no" "United States" "" "0" "" "" "" ""
"00033653" "" "" "" "2" "" "00006" "{PMID:Braun 2013:23918662}" "2-generation family, 2 affecteds, unaffected carrier sib" "-" "no" "United States" "" "0" "" "" "" ""
"00033654" "" "" "" "2" "" "00006" "{PMID:Braun 2013:23918662}" "3-generation family, 2 affecteds, unaffected carrier children" "M" "no" "United States" "" "0" "" "" "" ""
"00033655" "" "" "" "1" "" "00006" "{PMID:Braun 2013:23918662}" "2-generation family, 1 affected, unaffected carrier parents" "M" "no" "United States" "" "0" "" "" "" ""
"00033656" "" "" "" "1" "" "00006" "{PMID:Braun 2013:23918662}" "2-generation family, 1 affected, unaffected carrier parents" "F" "no" "United States" "" "0" "" "" "" ""
"00033657" "" "" "" "1" "" "00006" "{PMID:Braun 2013:23918662}" "2-generation family, 1 affected, unaffected carrier parents" "M" "no" "United States" "" "0" "" "" "" ""
"00033658" "" "" "" "1" "" "00006" "{PMID:Braun 2013:23918662}" "2-generation family, 1 affected, unaffected parents" "F" "no" "United States" "" "0" "" "" "" ""
"00033659" "" "" "" "1" "" "00006" "{PMID:Braun 2013:23918662}" "2-generation family, 1 affected, unaffected parents" "F" "no" "United States" "" "0" "" "" "" ""
"00033660" "" "" "" "1" "" "00006" "{PMID:Braun 2013:23918662}" "2-generation family, 1 affected, unaffected parents" "F" "no" "United States" "" "0" "" "" "" ""
"00033661" "" "" "" "1" "" "00006" "{PMID:Braun 2013:23918662}" "2-generation family, 1 affected, unaffected parents" "M" "no" "United States" "" "0" "" "" "" ""
"00033662" "" "" "" "1" "" "00006" "{PMID:Braun 2013:23918662}" "2-generation family, 1 affected, unaffected carrier parents" "M" "no" "United States" "" "0" "" "" "" ""
"00033663" "" "" "" "1" "" "00006" "{PMID:Braun 2013:23918662}" "2-generation family, 1 affected, unaffected parents" "M" "no" "United States" "" "0" "" "" "" ""
"00033664" "" "" "" "3" "" "00006" "{PMID:Braun 2013:23918662}" "2-generation family, 3 affecteds, unaffected carrier parents/sib" "-" "no" "United States" "" "0" "" "" "" ""
"00033665" "" "" "" "1" "" "00006" "{PMID:Braun 2013:23918662}" "2-generation family, 1 affected, unaffected carrier parents" "M" "no" "United States" "" "0" "" "" "" ""
"00033666" "" "" "" "1" "" "00006" "{PMID:Braun 2013:23918662}" "2-generation family, 1 affected, unaffected carrier parents" "F" "no" "United States" "" "0" "" "" "" ""
"00033667" "" "" "" "1" "" "01247" "{PMID:Bax 2015:25363634}" "2-generation family, 1 affected, unaffected parents" "M" "" "Netherlands" "" "0" "" "" "" ""
"00033668" "" "" "" "1" "" "01247" "{PMID:Bax 2015:25363634}" "2-generation family, 1 affected, unaffected parents" "F" "no" "Netherlands" "" "0" "" "" "" ""
"00033669" "" "" "" "1" "" "01247" "{PMID:Bax 2015:25363634}" "2-generation family, 1 affected, unaffected parents" "F" "no" "Netherlands" "" "0" "" "" "" ""
"00033670" "" "" "" "3" "" "01247" "{PMID:Bax 2015:25363634}" "2-generation family, 2 affecteds (F, M), unaffected carrier parents, patient GII2" "F" "no" "Netherlands" "" "0" "" "" "" ""
"00033671" "" "" "" "1" "" "01247" "{PMID:Bax 2015:25363634}" "4-generation family, 3 affecteds, 6 unaffected heterozygous carriers, patient AIV2" "F" "no" "Netherlands" "" "0" "" "" "" ""
"00033672" "" "" "" "1" "" "01247" "{PMID:Bax 2015:25363634}" "patient AIV1" "M" "no" "Netherlands" "" "0" "" "" "" ""
"00033673" "" "" "" "1" "" "01247" "{PMID:Bax 2015:25363634}" "patient AIII3" "M" "" "Netherlands" "" "0" "" "" "" ""
"00033674" "" "" "" "1" "" "01247" "{PMID:Bax 2015:25363634}" "2-generation family, 1 affected, unaffected heterozygous parents" "F" "" "Netherlands" "" "0" "" "" "" ""
"00033675" "" "" "" "2" "" "01247" "{PMID:Bax 2015:25363634}" "2-generation family, 2 affecteds (F, M), unaffected parents, patient BII1" "M" "" "Netherlands" "" "0" "" "" "" ""
"00033676" "" "" "" "2" "" "01247" "{PMID:Bax 2015:25363634}" "2-generation family, 2 affected (F, M), unaffected parents, patient CII1" "M" "no" "Netherlands" "" "0" "" "" "" ""
"00033677" "" "" "" "1" "" "01247" "{PMID:Bax 2015:25363634}" "2-generation family, 1 affected, unaffected heterozygous parents" "M" "no" "Netherlands" "" "0" "" "" "" ""
"00033683" "" "" "00033675" "1" "" "01247" "{PMID:Bax 2015:25363634}" "patient BII2" "F" "no" "Netherlands" "" "0" "" "" "" ""
"00033704" "" "" "" "1" "" "01248" "{PMID:Sciezyiska 2015:26593885}" "" "" "" "Poland" "" "0" "" "" "" ""
"00033705" "" "" "" "1" "" "01248" "{PMID:Sciezyiska 2015:26593885}" "" "" "" "Poland" "" "0" "" "" "" ""
"00033706" "" "" "" "1" "" "01248" "{PMID:Sciezyiska 2015:26593885}" "" "" "" "Poland" "" "0" "" "" "" ""
"00033707" "" "" "" "1" "" "01248" "{PMID:Sciezyiska 2015:26593885}" "" "" "" "Poland" "" "0" "" "" "" ""
"00033708" "" "" "" "1" "" "01248" "{PMID:Sciezyiska 2015:26593885}" "" "" "" "Poland" "" "0" "" "" "" ""
"00033709" "" "" "" "1" "" "01248" "{PMID:Sciezyiska 2015:26593885}" "" "" "" "Poland" "" "0" "" "" "" ""
"00033710" "" "" "" "1" "" "01248" "{PMID:Sciezyiska 2015:26593885}" "" "" "" "Poland" "" "0" "" "" "" ""
"00033711" "" "" "" "1" "" "01248" "{PMID:Sciezyiska 2015:26593885}" "" "" "" "Poland" "" "0" "" "" "" ""
"00033712" "" "" "" "1" "" "01248" "{PMID:Sciezyiska 2015:26593885}" "" "" "" "Poland" "" "0" "" "" "" ""
"00033713" "" "" "" "1" "" "01248" "{PMID:Sciezyiska 2015:26593885}" "" "" "" "Poland" "" "0" "" "" "" ""
"00033714" "" "" "" "1" "" "01248" "{PMID:Sciezyiska 2015:26593885}" "" "" "" "Poland" "" "0" "" "" "" ""
"00033715" "" "" "" "1" "" "01248" "{PMID:Sciezyiska 2015:26593885}" "" "" "" "Poland" "" "0" "" "" "" ""
"00033716" "" "" "" "1" "" "01248" "{PMID:Sciezyiska 2015:26593885}" "" "" "" "Poland" "" "0" "" "" "" ""
"00033717" "" "" "" "1" "" "01248" "{PMID:Sciezyiska 2015:26593885}" "" "" "" "Poland" "" "0" "" "" "" ""
"00033718" "" "" "" "1" "" "01248" "{PMID:Sciezyiska 2015:26593885}" "" "" "" "Poland" "" "0" "" "" "" ""
"00033719" "" "" "" "1" "" "01248" "{PMID:Sciezyiska 2015:26593885}" "" "" "" "Poland" "" "0" "" "" "" ""
"00038322" "" "" "00077526" "1" "" "01251" "{PMID:Sánchez-Alcudia 2014:25342620}" "sister" "F" "" "Spain" "" "0" "" "" "Spanish" "RP-0280PatII4"
"00038371" "" "" "" "1" "" "01251" "{PMID:Xu 2014:24938718}" "" "F" "?" "China" "" "0" "" "" "Chinese" ""
"00050695" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" ""
"00052949" "" "" "" "1" "" "01424" "{PMID:Wang 2014:25097241}" "" "F" "?" "United States" "" "0" "" "" "" "32"
"00057783" "" "" "" "5" "" "01338" "" "" "F" "yes" "India" "" "0" "yes" "" "Indian" ""
"00074686" "" "" "" "1" "" "01695" "{PMID:Singh 2009:19339744}" "" "F" "yes" "India" "" "0" "" "" "Indian" ""
"00074687" "" "" "" "1" "" "01695" "{PMID:Singh 2009:19339744}" "" "F" "yes" "India" "" "0" "" "" "Indian" ""
"00074688" "" "" "" "1" "" "01695" "{PMID:Booij 2011:20801516}" "" "?" "?" "" "" "0" "" "" "?" ""
"00074689" "" "" "" "1" "" "01695" "{PMID:Booij 2011:20801516}" "" "?" "?" "" "" "0" "" "" "?" ""
"00074690" "" "" "" "1" "" "01695" "{PMID:Booij 2011:20801516}" "" "?" "?" "" "" "0" "" "" "?" ""
"00074691" "" "" "" "1" "" "01695" "{PMID:Booij 2011:20801516}" "" "?" "?" "" "" "0" "" "" "?" ""
"00074692" "" "" "" "1" "" "01695" "{PMID:Booij 2011:20801516}" "" "?" "?" "" "" "0" "" "" "?" ""
"00074693" "" "" "" "1" "" "01695" "{PMID:Abu-Safieh 2013:23105016}" "" "?" "?" "Saudi Arabia" "" "0" "" "" "Arab" ""
"00074694" "" "" "" "1" "" "01695" "{PMID:Abu-Safieh 2013:23105016}" "" "?" "?" "Saudi Arabia" "" "0" "" "" "Arab" ""
"00074695" "" "" "" "1" "" "01695" "{PMID:Abu-Safieh 2013:23105016}" "" "?" "?" "Saudi Arabia" "" "0" "" "" "Arab" ""
"00074696" "" "" "" "1" "" "01695" "{PMID:Chen 2013:23462753}" "3-generation family, 2 affected" "?" "?" "China" "" "0" "" "" "Chinese" ""
"00074697" "" "" "" "1" "" "01695" "{PMID:Chen 2013:23462753}" "2-generation family, 2 affected" "?" "?" "China" "" "0" "" "" "Chinese" ""
"00074698" "" "" "" "1" "" "01695" "{PMID:Corton 2013:23940504}" "2-generation family, 2 affected" "M" "?" "Switzerland" "" "0" "" "" "Spanish" ""
"00074699" "" "" "" "1" "" "01695" "{PMID:Corton 2013:23940504}" "2-generation family, 2 affected" "M" "?" "Switzerland" "" "0" "" "" "Spanish" ""
"00074700" "" "" "" "1" "" "01695" "{PMID:Corton 2013:23940504}" "2-generation family, 2 affected" "F" "?" "Switzerland" "" "0" "" "" "Spanish" ""
"00074701" "" "" "" "1" "" "01695" "{PMID:Corton 2013:23940504}" "2-generation family, 2 affected" "F" "?" "Switzerland" "" "0" "" "" "Spanish" ""
"00074702" "" "" "" "1" "" "01695" "{PMID:Corton 2013:23940504}" "2-generation family, 2 affected" "M" "?" "Switzerland" "" "0" "" "" "Spanish" ""
"00074703" "" "" "" "1" "" "01695" "{PMID:Corton 2013:23940504}" "2-generation family, 2 affected" "M" "?" "Switzerland" "" "0" "" "" "Spanish" ""
"00074704" "" "" "" "1" "" "01695" "{PMID:Eisenberger 2013:24265693}" "" "M" "no" "Germany" "" "0" "" "" "white" ""
"00074705" "" "" "" "1" "" "01695" "{PMID:Eisenberger 2013:24265693}" "" "F" "no" "Germany" "" "0" "" "" "German" ""
"00074706" "" "" "" "1" "" "01695" "{PMID:Eisenberger 2013:24265693}" "" "F" "no" "Germany" "" "0" "" "" "German" ""
"00074707" "" "" "" "1" "" "01695" "{PMID:Eisenberger 2013:24265693}" "" "F" "yes" "Germany" "" "0" "" "" "German" ""
"00074708" "" "" "" "1" "" "01695" "{PMID:Glockle 2014:23591405}" "" "?" "?" "" "" "0" "" "" "?" ""
"00074709" "" "" "" "1" "" "01695" "{PMID:Glockle 2014:23591405}" "" "?" "?" "" "" "0" "" "" "?" ""
"00074710" "" "" "" "1" "" "01695" "{PMID:Glockle 2014:23591405}" "" "?" "?" "" "" "0" "" "" "?" ""
"00074711" "" "" "" "1" "" "01695" "{PMID:Glockle 2014:23591405}" "" "?" "?" "" "" "0" "" "" "?" ""
"00074712" "" "" "" "1" "" "01695" "{PMID:Glockle 2014:23591405}" "" "?" "?" "" "" "0" "" "" "?" ""
"00074713" "" "" "" "1" "" "01695" "{PMID:Jin 2014:24791140}" "" "M" "no" "China" "" "0" "" "" "Chinese" ""
"00074714" "" "" "" "1" "" "01695" "{PMID:Jin 2014:24791140}" "" "M" "no" "China" "" "0" "" "" "Chinese" ""
"00074715" "" "" "" "1" "" "01695" "{PMID:Jin 2014:24791140}" "" "M" "no" "China" "" "0" "" "" "Chinese" ""
"00074716" "" "" "" "3" "" "01695" "{PMID:González-del Pozo 2014:25544989}" "2-generation family, 3 affected, 4 carriers" "F" "no" "Spain" "" "0" "" "" "Spanish" "RP19PatII2"
"00074717" "" "" "00074716" "1" "" "01695" "{PMID:González-del Pozo 2014:25544989}" "brother" "M" "no" "Spain" "" "0" "" "" "Spanish" "RP19PatII4"
"00074718" "" "" "00074716" "1" "" "01695" "{PMID:González-del Pozo 2014:25544989}" "sister" "F" "no" "Spain" "" "0" "" "" "Spanish" "RP19PatII6"
"00074719" "" "" "" "1" "" "01695" "{PMID:Huang 2015:25356976}" "" "?" "?" "China" "" "0" "" "" "Chinese" ""
"00074720" "" "" "" "1" "" "01695" "{PMID:Huang 2015:25356976}" "-" "?" "?" "China" "" "0" "" "" "Chinese" ""
"00074721" "" "" "" "1" "" "01695" "{PMID:Huang 2015:25356976}" "-" "?" "?" "China" "" "0" "" "" "Chinese" ""
"00074722" "" "" "" "1" "" "01695" "{PMID:Huang 2015:25356976}" "-" "?" "?" "China" "" "0" "" "" "Chinese" ""
"00074723" "" "" "" "1" "" "01695" "{PMID:Alapati 2014:25082885}" "" "?" "?" "United States" "" "0" "" "" "American" ""
"00074724" "" "" "" "1" "" "01695" "{PMID:Alapati 2014:25082885}" "" "?" "?" "United States" "" "0" "" "" "American" ""
"00074725" "" "" "" "1" "" "01695" "{PMID:Alapati 2014:25082885}" "" "?" "?" "United States" "" "0" "" "" "American" ""
"00074726" "" "" "" "1" "" "01695" "{PMID:Alapati 2014:25082885}" "" "?" "?" "United States" "" "0" "" "" "American" ""
"00074727" "" "" "" "1" "" "01695" "{PMID:Alapati 2014:25082885}" "" "?" "?" "United States" "" "0" "" "" "American" ""
"00074728" "" "" "" "1" "" "01695" "{PMID:Alapati 2014:25082885}" "" "?" "?" "United States" "" "0" "" "" "American" ""
"00074729" "" "" "" "1" "" "01695" "{PMID:Alapati 2014:25082885}" "" "?" "?" "United States" "" "0" "" "" "American" ""
"00074730" "" "" "" "1" "" "01695" "{PMID:Alapati 2014:25082885}" "" "?" "?" "United States" "" "0" "" "" "American" ""
"00074731" "" "" "" "1" "" "01695" "{PMID:Alapati 2014:25082885}" "" "?" "?" "United States" "" "0" "" "" "American" ""
"00074732" "" "" "" "1" "" "01695" "{PMID:Alapati 2014:25082885}" "" "?" "?" "United States" "" "0" "" "" "American" ""
"00074733" "" "" "" "1" "" "01695" "{PMID:Alapati 2014:25082885}" "" "?" "?" "United States" "" "0" "" "" "American" ""
"00074734" "" "" "" "1" "" "01695" "{PMID:Alapati 2014:25082885}" "" "?" "?" "United States" "" "0" "" "" "American" ""
"00074735" "" "" "" "1" "" "01695" "{PMID:Alapati 2014:25082885}" "" "?" "?" "United States" "" "0" "" "" "American" ""
"00074736" "" "" "" "1" "" "01695" "{PMID:Alapati 2014:25082885}" "" "?" "?" "United States" "" "0" "" "" "American" ""
"00074737" "" "" "" "1" "" "01695" "{PMID:Alapati 2014:25082885}" "" "?" "?" "United States" "" "0" "" "" "American" ""
"00074738" "" "" "" "1" "" "01695" "{PMID:Alapati 2014:25082885}" "" "?" "?" "United States" "" "0" "" "" "American" ""
"00074739" "" "" "" "1" "" "01695" "{PMID:Alapati 2014:25082885}" "" "?" "?" "United States" "" "0" "" "" "American" ""
"00074740" "" "" "" "1" "" "01695" "{PMID:Alapati 2014:25082885}" "" "?" "?" "United States" "" "0" "" "" "American" ""
"00074741" "" "" "" "1" "" "01695" "{PMID:Alapati 2014:25082885}" "" "?" "?" "United States" "" "0" "" "" "American" ""
"00074742" "" "" "" "1" "" "01695" "{PMID:Alapati 2014:25082885}" "" "?" "?" "United States" "" "0" "" "" "American" ""
"00074743" "" "" "" "1" "" "01695" "{PMID:Alapati 2014:25082885}" "" "?" "?" "United States" "" "0" "" "" "American" ""
"00074744" "" "" "" "1" "" "01695" "{PMID:Alapati 2014:25082885}" "" "?" "?" "United States" "" "0" "" "" "American" ""
"00074745" "" "" "" "1" "" "01695" "{PMID:Alapati 2014:25082885}" "" "?" "?" "United States" "" "0" "" "" "American" ""
"00074746" "" "" "" "1" "" "01695" "{PMID:Alapati 2014:25082885}" "" "?" "?" "United States" "" "0" "" "" "American" ""
"00074747" "" "" "" "1" "" "01695" "{PMID:Alapati 2014:25082885}" "" "?" "?" "United States" "" "0" "" "" "American" ""
"00074748" "" "" "" "1" "" "01695" "{PMID:Alapati 2014:25082885}" "" "?" "?" "United States" "" "0" "" "" "American" ""
"00074749" "" "" "" "1" "" "01695" "{PMID:Oishi 2014:25324289}" "" "?" "?" "Japan" "" "0" "" "" "Japanese" ""
"00074750" "" "" "" "1" "" "01695" "{PMID:Oishi 2014:25324289}" "" "?" "?" "Japan" "" "0" "" "" "Japanese" ""
"00074751" "" "" "" "1" "" "01695" "{PMID:Oishi 2014:25324289}" "" "?" "?" "Japan" "" "0" "" "" "Japanese" ""
"00074752" "" "" "" "1" "" "01695" "{PMID:Oishi 2014:25324289}" "" "?" "?" "Japan" "" "0" "" "" "Japanese" ""
"00074753" "" "" "" "1" "" "01695" "{PMID:Oishi 2014:25324289}" "" "?" "?" "Japan" "" "0" "" "" "Japanese" ""
"00074754" "" "" "" "1" "" "01695" "{PMID:Oishi 2014:25324289}" "" "?" "?" "Japan" "" "0" "" "" "Japanese" ""
"00074755" "" "" "" "1" "" "01695" "{PMID:Oishi 2014:25324289}" "" "?" "?" "Japan" "" "0" "" "" "Japanese" ""
"00074756" "" "" "" "1" "" "01695" "{PMID:Oishi 2014:25324289}" "" "?" "?" "Japan" "" "0" "" "" "Japanese" ""
"00074757" "" "" "" "1" "" "01695" "{PMID:Oishi 2014:25324289}" "" "?" "?" "Japan" "" "0" "" "" "Japanese" ""
"00074758" "" "" "" "1" "" "01695" "{PMID:Oishi 2014:25324289}" "" "?" "?" "Japan" "" "0" "" "" "Japanese" ""
"00074759" "" "" "" "1" "" "01695" "{PMID:Oishi 2014:25324289}" "" "?" "?" "Japan" "" "0" "" "" "Japanese" ""
"00074760" "" "" "" "1" "" "01695" "{PMID:Oishi 2014:25324289}" "" "?" "?" "Japan" "" "0" "" "" "Japanese" ""
"00074761" "" "" "" "1" "" "01695" "{PMID:Oishi 2014:25324289}" "" "?" "?" "Japan" "" "0" "" "" "Japanese" ""
"00074762" "" "" "" "1" "" "01695" "{PMID:Mullins 2012:22395892}, {PMID:Schindler 2010:20647261}" "2-generation family, 2 affected" "M" "?" "United States" "" "0" "" "" "Iowa" ""
"00074763" "" "" "" "1" "" "01695" "{PMID:Zhao 2015:25472526}" "Simplex" "?" "?" "Northern Ireland" "" "0" "" "" "?" ""
"00074764" "" "" "" "1" "" "01695" "{PMID:Zhao 2015:25472526}" "Simplex" "?" "?" "Northern Ireland" "" "0" "" "" "?" ""
"00074765" "" "" "" "1" "" "01695" "{PMID:Zhao 2015:25472526}" "Simplex; c.4469G>A/p.(Cys1490Tyr) was also identified in this patient" "?" "?" "Northern Ireland" "" "0" "" "" "?" ""
"00074766" "" "" "" "1" "" "01695" "{PMID:Zhao 2015:25472526}" "-" "?" "?" "Northern Ireland" "" "0" "" "" "?" ""
"00074767" "" "" "" "1" "" "01695" "{PMID:Zhao 2015:25472526}" "" "?" "?" "Northern Ireland" "" "0" "" "" "?" ""
"00074768" "" "" "" "1" "" "01695" "{PMID:Zhao 2015:25472526}" "" "?" "?" "Northern Ireland" "" "0" "" "" "?" ""
"00074769" "" "" "" "1" "" "01695" "{PMID:Zhao 2015:25472526}" "" "?" "?" "Northern Ireland" "" "0" "" "" "?" ""
"00074770" "" "" "" "1" "" "01695" "{PMID:Bax 2015:25363634}" "patient CII2" "F" "?" "Netherlands" "" "0" "" "" "?" ""
"00074771" "" "" "" "1" "" "01695" "{PMID:Bax 2015:25363634}" "patient GII1" "M" "?" "Netherlands" "" "0" "" "" "?" ""
"00074772" "" "" "" "1" "" "01695" "{PMID:Anderson 1995:8533764}" "" "?" "?" "" "" "0" "" "" "?" ""
"00074773" "" "" "" "1" "" "01695" "{PMID:Anderson 1995:8533764}" "-" "?" "no" "" "" "0" "" "" "?" ""
"00074774" "" "" "" "1" "" "01695" "{PMID:Anderson 1995:8533764}" "-" "?" "yes" "Saudi Arabia" "" "0" "" "" "?" ""
"00074775" "" "" "" "1" "" "01695" "{PMID:Anderson 1995:8533764}" "-" "?" "yes" "United States" "" "0" "" "" "?" ""
"00074776" "" "" "" "1" "" "01695" "{PMID:Anderson 1995:8533764}" "-" "?" "?" "United States" "" "0" "" "" "?" ""
"00074777" "" "" "" "1" "" "01695" "{PMID:Anderson 1995:8533764}" "-" "?" "?" "United States" "" "0" "" "" "?" ""
"00074778" "" "" "" "1" "" "01695" "{PMID:Anderson 1995:8533764}" "-" "?" "?" "United States" "" "0" "" "" "?" ""
"00074779" "" "" "" "1" "" "01695" "{PMID:Maugeri 1999:10090887}" "" "?" "?" "Sweden;Germany;Netherlands" "" "0" "" "" "" ""
"00074780" "" "" "" "1" "" "01695" "{PMID:Maugeri 1999:10090887}" "" "?" "?" "Sweden;Germany;Netherlands" "" "0" "" "" "" ""
"00074781" "" "" "" "1" "" "01695" "{PMID:Maugeri 1999:10090887}" "" "?" "?" "Sweden;Germany;Netherlands" "" "0" "" "" "" ""
"00074782" "" "" "" "1" "" "01695" "{PMID:Maugeri 1999:10090887}" "" "?" "?" "Sweden;Germany;Netherlands" "" "0" "" "" "" ""
"00074783" "" "" "" "1" "" "01695" "{PMID:Maugeri 1999:10090887}" "" "?" "?" "Sweden;Germany;Netherlands" "" "0" "" "" "" ""
"00074784" "" "" "" "1" "" "01695" "{PMID:Maugeri 1999:10090887}" "" "?" "?" "Sweden;Germany;Netherlands" "" "0" "" "" "" ""
"00074785" "" "" "" "1" "" "01695" "{PMID:Maugeri 1999:10090887}" "" "?" "?" "Sweden;Germany;Netherlands" "" "0" "" "" "" ""
"00074786" "" "" "" "1" "" "01695" "{PMID:Maugeri 1999:10090887}" "" "?" "?" "Sweden;Germany;Netherlands" "" "0" "" "" "" ""
"00074787" "" "" "" "1" "" "01695" "{PMID:Maugeri 1999:10090887}" "" "?" "?" "Sweden;Germany;Netherlands" "" "0" "" "" "" ""
"00074788" "" "" "" "1" "" "01695" "{PMID:Maugeri 1999:10090887}" "" "?" "?" "Sweden;Germany;Netherlands" "" "0" "" "" "" ""
"00074789" "" "" "" "1" "" "01695" "{PMID:Maugeri 1999:10090887}" "" "?" "?" "Sweden;Germany;Netherlands" "" "0" "" "" "" ""
"00074790" "" "" "" "1" "" "01695" "{PMID:Maugeri 1999:10090887}" "Mutations were annotated saperately. However, as these mutations are often found together, they are assumed to lie on the some chromosome." "?" "?" "Sweden;Germany;Netherlands" "" "0" "" "" "" ""
"00074791" "" "" "" "1" "" "01695" "{PMID:Maugeri 1999:10090887}" "" "?" "?" "Sweden;Germany;Netherlands" "" "0" "" "" "" ""
"00074792" "" "" "" "1" "" "01695" "{PMID:Maugeri 1999:10090887}" "" "?" "?" "Sweden;Germany;Netherlands" "" "0" "" "" "" ""
"00074793" "" "" "" "1" "" "01695" "{PMID:Papaioannou 2000:10634594}" "Possibly combined with one of the other mutations listed mentioned in this paper ({PMID:Papaioannou 2000:10634594}), because two more compound heterozygous patients are present in this list, but their mutations were not mentioned to belong together. Therefore, these mutations are listed seperately." "?" "?" "United Kingdom (Great Britain)" "" "0" "" "" "?" ""
"00074794" "" "" "" "1" "" "01695" "{PMID:Papaioannou 2000:10634594}" "Possibly combined with one of the other mutations listed mentioned in this paper ({PMID:Papaioannou 2000:10634594}), because two more compound heterozygous patients are present in this list, but their mutations were not mentioned to belong together. Therefore, these mutations are listed seperately." "?" "?" "United Kingdom (Great Britain)" "" "0" "" "" "?" ""
"00074795" "" "" "" "1" "" "01695" "{PMID:Papaioannou 2000:10634594}" "Possibly combined with one of the other mutations listed mentioned in this paper ({PMID:Papaioannou 2000:10634594}), because two more compound heterozygous patients are present in this list, but their mutations were not mentioned to belong together. Therefore, these mutations are listed seperately." "?" "?" "United Kingdom (Great Britain)" "" "0" "" "" "?" ""
"00074796" "" "" "" "1" "" "01695" "{PMID:Papaioannou 2000:10634594}" "Possibly combined with one of the other mutations listed mentioned in this paper ({PMID:Papaioannou 2000:10634594}), because two more compound heterozygous patients are present in this list, but their mutations were not mentioned to belong together. Therefore, these mutations are listed seperately." "?" "?" "United Kingdom (Great Britain)" "" "0" "" "" "?" ""
"00074797" "" "" "" "1" "" "01695" "{PMID:Papaioannou 2000:10634594}" "Possibly combined with one of the other mutations listed mentioned in this paper ({PMID:Papaioannou 2000:10634594}), because two more compound heterozygous patients are present in this list, but their mutations were not mentioned to belong together. Therefore, these mutations are listed seperately." "?" "?" "United Kingdom (Great Britain)" "" "0" "" "" "?" ""
"00074798" "" "" "" "1" "" "01695" "{PMID:Papaioannou 2000:10634594}" "" "?" "?" "United Kingdom (Great Britain)" "" "0" "" "" "?" ""
"00074799" "" "" "" "1" "" "01695" "{PMID:Papaioannou 2000:10634594}" "" "?" "?" "United Kingdom (Great Britain)" "" "0" "" "" "?" ""
"00074800" "" "" "" "1" "" "01695" "{PMID:Papaioannou 2000:10634594}" "Possibly combined with one of the other mutations listed mentioned in this paper ({PMID:Papaioannou 2000:10634594}), because two more compound heterozygous patients are present in this list, but their mutations were not mentioned to belong together. Therefore, these mutations are listed seperately." "?" "?" "United Kingdom (Great Britain)" "" "0" "" "" "?" ""
"00074801" "" "" "" "1" "" "01695" "{PMID:Papaioannou 2000:10634594}" "Possibly combined with one of the other mutations listed mentioned in this paper ({PMID:Papaioannou 2000:10634594}), because two more compound heterozygous patients are present in this list, but their mutations were not mentioned to belong together. Therefore, these mutations are listed seperately." "?" "?" "United Kingdom (Great Britain)" "" "0" "" "" "?" ""
"00074802" "" "" "" "1" "" "01695" "{PMID:Papaioannou 2000:10634594}" "Possibly combined with one of the other mutations listed mentioned in this paper ({PMID:Papaioannou 2000:10634594}), because two more compound heterozygous patients are present in this list, but their mutations were not mentioned to belong together. Therefore, these mutations are listed seperately." "?" "?" "United Kingdom (Great Britain)" "" "0" "" "" "?" ""
"00074803" "" "" "" "1" "" "01695" "{PMID:Papaioannou 2000:10634594}" "Possibly combined with one of the other mutations listed mentioned in this paper ({PMID:Papaioannou 2000:10634594}), because two more compound heterozygous patients are present in this list, but their mutations were not mentioned to belong together. Therefore, these mutations are listed seperately." "?" "?" "United Kingdom (Great Britain)" "" "0" "" "" "?" ""
"00074804" "" "" "" "1" "" "01695" "{PMID:Papaioannou 2000:10634594}" "" "?" "?" "United Kingdom (Great Britain)" "" "0" "" "" "?" ""
"00074805" "" "" "" "1" "" "01695" "{PMID:Papaioannou 2000:10634594}" "" "?" "?" "United Kingdom (Great Britain)" "" "0" "" "" "?" ""
"00074806" "" "" "" "1" "" "01695" "{PMID:Papaioannou 2000:10634594}" "" "?" "?" "United Kingdom (Great Britain)" "" "0" "" "" "?" ""
"00074807" "" "" "" "1" "" "01695" "{PMID:Papaioannou 2000:10634594}" "Possibly combined with one of the other mutations listed mentioned in this paper ({PMID:Papaioannou 2000:10634594}), because two more compound heterozygous patients are present in this list, but their mutations were not mentioned to belong together. Therefore, these mutations are listed seperately." "?" "?" "United Kingdom (Great Britain)" "" "0" "" "" "?" ""
"00074808" "" "" "" "1" "" "01695" "{PMID:Papaioannou 2000:10634594}" "Possibly combined with one of the other mutations listed mentioned in this paper ({PMID:Papaioannou 2000:10634594}), because two more compound heterozygous patients are present in this list, but their mutations were not mentioned to belong together. Therefore, these mutations are listed seperately." "?" "?" "United Kingdom (Great Britain)" "" "0" "" "" "?" ""
"00074809" "" "" "" "1" "" "01695" "{PMID:Papaioannou 2000:10634594}" "Possibly combined with one of the other mutations listed mentioned in this paper ({PMID:Papaioannou 2000:10634594}), because two more compound heterozygous patients are present in this list, but their mutations were not mentioned to belong together. Therefore, these mutations are listed seperately." "?" "?" "United Kingdom (Great Britain)" "" "0" "" "" "?" ""
"00074810" "" "" "" "1" "" "01695" "{PMID:Papaioannou 2000:10634594}" "Possibly combined with one of the other mutations listed mentioned in this paper ({PMID:Papaioannou 2000:10634594}), because two more compound heterozygous patients are present in this list, but their mutations were not mentioned to belong together. Therefore, these mutations are listed seperately. On its own not significantely found more often in published STGD compared to ExAC (p-value 0.50). However, together with other non-significant variants published related to STGD, they are significantly more often in STGD patients (p-value <0.01)." "?" "?" "United Kingdom (Great Britain)" "" "0" "" "" "?" ""
"00074811" "" "" "" "1" "" "01695" "{PMID:Papaioannou 2000:10634594}" "Possibly combined with one of the other mutations listed mentioned in this paper ({PMID:Papaioannou 2000:10634594}), because two more compound heterozygous patients are present in this list, but their mutations were not mentioned to belong together. Therefore, these mutations are listed seperately." "?" "?" "United Kingdom (Great Britain)" "" "0" "" "" "?" ""
"00074812" "" "" "" "1" "" "01695" "{PMID:Papaioannou 2000:10634594}" "Possibly combined with one of the other mutations listed mentioned in this paper ({PMID:Papaioannou 2000:10634594}), because two more compound heterozygous patients are present in this list, but their mutations were not mentioned to belong together. Therefore, these mutations are listed seperately." "?" "?" "United Kingdom (Great Britain)" "" "0" "" "" "?" ""
"00074813" "" "" "" "1" "" "01695" "{PMID:Papaioannou 2000:10634594}" "Possibly combined with one of the other mutations listed mentioned in this paper ({PMID:Papaioannou 2000:10634594}), because two more compound heterozygous patients are present in this list, but their mutations were not mentioned to belong together. Therefore, these mutations are listed seperately." "?" "?" "United Kingdom (Great Britain)" "" "0" "" "" "?" ""
"00074814" "" "" "" "1" "" "01695" "{PMID:Papaioannou 2000:10634594}" "Possibly combined with one of the other mutations listed mentioned in this paper ({PMID:Papaioannou 2000:10634594}), because two more compound heterozygous patients are present in this list, but their mutations were not mentioned to belong together. Therefore, these mutations are listed seperately." "?" "?" "United Kingdom (Great Britain)" "" "0" "" "" "?" ""
"00074815" "" "" "" "1" "" "01695" "{PMID:Papaioannou 2000:10634594}" "Possibly combined with one of the other mutations listed mentioned in this paper ({PMID:Papaioannou 2000:10634594}), because two more compound heterozygous patients are present in this list, but their mutations were not mentioned to belong together. Therefore, these mutations are listed seperately." "?" "?" "United Kingdom (Great Britain)" "" "0" "" "" "?" ""
"00074816" "" "" "" "1" "" "01695" "{PMID:Papaioannou 2000:10634594}" "Possibly combined with one of the other mutations listed mentioned in this paper ({PMID:Papaioannou 2000:10634594}), because two more compound heterozygous patients are present in this list, but their mutations were not mentioned to belong together. Therefore, these mutations are listed seperately." "?" "?" "United Kingdom (Great Britain)" "" "0" "" "" "?" ""
"00074817" "" "" "" "1" "" "01695" "{PMID:Papaioannou 2000:10634594}" "Possibly combined with one of the other mutations listed mentioned in this paper ({PMID:Papaioannou 2000:10634594}), because two more compound heterozygous patients are present in this list, but their mutations were not mentioned to belong together. Therefore, these mutations are listed seperately." "?" "?" "United Kingdom (Great Britain)" "" "0" "" "" "?" ""
"00074818" "" "" "" "1" "" "01695" "{PMID:Papaioannou 2000:10634594}" "Possibly combined with one of the other mutations listed mentioned in this paper ({PMID:Papaioannou 2000:10634594}), because two more compound heterozygous patients are present in this list, but their mutations were not mentioned to belong together. Therefore, these mutations are listed seperately." "?" "?" "United Kingdom (Great Britain)" "" "0" "" "" "?" ""
"00074819" "" "" "" "1" "" "01695" "{PMID:Papaioannou 2000:10634594}" "Possibly combined with one of the other mutations listed mentioned in this paper ({PMID:Papaioannou 2000:10634594}), because two more compound heterozygous patients are present in this list, but their mutations were not mentioned to belong together. Therefore, these mutations are listed seperately." "?" "?" "United Kingdom (Great Britain)" "" "0" "" "" "?" ""
"00074820" "" "" "" "1" "" "01695" "{PMID:Papaioannou 2000:10634594}" "Possibly combined with one of the other mutations listed mentioned in this paper ({PMID:Papaioannou 2000:10634594}), because two more compound heterozygous patients are present in this list, but their mutations were not mentioned to belong together. Therefore, these mutations are listed seperately." "?" "?" "United Kingdom (Great Britain)" "" "0" "" "" "?" ""
"00074821" "" "" "" "1" "" "01695" "{PMID:Papaioannou 2000:10634594}" "Possibly combined with one of the other mutations listed mentioned in this paper ({PMID:Papaioannou 2000:10634594}), because two more compound heterozygous patients are present in this list, but their mutations were not mentioned to belong together. Therefore, these mutations are listed seperately." "?" "?" "United Kingdom (Great Britain)" "" "0" "" "" "?" ""
"00074822" "" "" "" "1" "" "01695" "{PMID:Papaioannou 2000:10634594}" "Possibly combined with one of the other mutations listed mentioned in this paper ({PMID:Papaioannou 2000:10634594}), because two more compound heterozygous patients are present in this list, but their mutations were not mentioned to belong together. Therefore, these mutations are listed seperately." "?" "?" "United Kingdom (Great Britain)" "" "0" "" "" "?" ""
"00074823" "" "" "" "1" "" "01695" "{PMID:Papaioannou 2000:10634594}" "Possibly combined with one of the other mutations listed mentioned in this paper ({PMID:Papaioannou 2000:10634594}), because two more compound heterozygous patients are present in this list, but their mutations were not mentioned to belong together. Therefore, these mutations are listed seperately." "?" "?" "United Kingdom (Great Britain)" "" "0" "" "" "?" ""
"00074824" "" "" "" "1" "" "01695" "{PMID:Briggs 2001:11527935}" "" "?" "?" "" "" "0" "" "" "?" ""
"00074825" "" "" "" "1" "" "01695" "{PMID:Briggs 2001:11527935}" "2-generation family, 2 affected" "F" "?" "" "" "0" "" "" "?" ""
"00074826" "" "" "" "1" "" "01695" "{PMID:Briggs 2001:11527935}" "Sibling of 034-039; 2-generation family, 2 affected" "M" "?" "" "" "0" "" "" "?" ""
"00074827" "" "" "" "1" "" "01695" "{PMID:Briggs 2001:11527935}" "" "?" "?" "" "" "0" "" "" "?" ""
"00074828" "" "" "" "1" "" "01695" "{PMID:Briggs 2001:11527935}" "" "?" "?" "" "" "0" "" "" "?" ""
"00074829" "" "" "" "1" "" "01695" "{PMID:Briggs 2001:11527935}" "" "?" "?" "" "" "0" "" "" "?" ""
"00074830" "" "" "" "1" "" "01695" "{PMID:Briggs 2001:11527935}" "2-generation family, 1 affected" "F" "?" "" "" "0" "" "" "?" ""
"00074831" "" "" "" "1" "" "01695" "{PMID:Briggs 2001:11527935}" "2-generation family, 1 affected" "M" "?" "" "" "0" "" "" "?" ""
"00074832" "" "" "" "1" "" "01695" "{PMID:Briggs 2001:11527935}" "" "?" "?" "" "" "0" "" "" "?" ""
"00074833" "" "" "" "1" "" "01695" "{PMID:Briggs 2001:11527935}" "" "?" "?" "" "" "0" "" "" "?" ""
"00074834" "" "" "" "1" "" "01695" "{PMID:Briggs 2001:11527935}" "" "?" "?" "" "" "0" "" "" "?" ""
"00074835" "" "" "" "1" "" "01695" "{PMID:Briggs 2001:11527935}" "" "?" "?" "" "" "0" "" "" "?" ""
"00074836" "" "" "" "1" "" "01695" "{PMID:Briggs 2001:11527935}" "" "?" "?" "" "" "0" "" "" "?" ""
"00074837" "" "" "" "1" "" "01695" "{PMID:Briggs 2001:11527935}" "" "?" "?" "" "" "0" "" "" "?" ""
"00074838" "" "" "" "1" "" "01695" "{PMID:Briggs 2001:11527935}" "" "?" "?" "" "" "0" "" "" "?" ""
"00074839" "" "" "" "1" "" "01695" "{PMID:Briggs 2001:11527935}" "" "?" "?" "" "" "0" "" "" "?" ""
"00074840" "" "" "" "1" "" "01695" "{PMID:Briggs 2001:11527935}" "" "?" "?" "" "" "0" "" "" "?" ""
"00074841" "" "" "" "1" "" "01695" "{PMID:Briggs 2001:11527935}" "2-generation family, 1 affected" "F" "?" "" "" "0" "" "" "?" ""
"00074842" "" "" "" "1" "" "01695" "{PMID:Briggs 2001:11527935}" "" "?" "?" "" "" "0" "" "" "?" ""
"00074843" "" "" "" "1" "" "01695" "{PMID:Briggs 2001:11527935}" "" "?" "?" "" "" "0" "" "" "?" ""
"00074844" "" "" "" "1" "" "01695" "{PMID:Briggs 2001:11527935}" "" "?" "?" "" "" "0" "" "" "?" ""
"00074845" "" "" "" "1" "" "01695" "{PMID:Briggs 2001:11527935}" "" "?" "?" "" "" "0" "" "" "?" ""
"00074846" "" "" "" "1" "" "01695" "{PMID:Briggs 2001:11527935}" "2-generation family, 1 affected" "F" "?" "" "" "0" "" "" "?" ""
"00074847" "" "" "" "1" "" "01695" "{PMID:Briggs 2001:11527935}" "2-generation family, 1 affected" "F" "?" "" "" "0" "" "" "?" ""
"00074848" "" "" "" "1" "" "01695" "{PMID:Briggs 2001:11527935}" "" "?" "?" "" "" "0" "" "" "?" ""
"00074849" "" "" "" "1" "" "01695" "{PMID:Briggs 2001:11527935}" "" "?" "?" "" "" "0" "" "" "?" ""
"00074850" "" "" "" "1" "" "01695" "{PMID:Briggs 2001:11527935}" "2-generation family, 3 affected" "F" "?" "" "" "0" "" "" "?" ""
"00074851" "" "" "" "1" "" "01695" "{PMID:Briggs 2001:11527935}" "Sibling of 071-003; 2-generation family, 3 affected" "F" "?" "" "" "0" "" "" "?" ""
"00074852" "" "" "" "1" "" "01695" "{PMID:Briggs 2001:11527935}" "Sibling of 071-003; 2-generation family, 3 affected" "F" "?" "" "" "0" "" "" "?" ""
"00074853" "" "" "" "1" "" "01695" "{PMID:Briggs 2001:11527935}" "" "?" "?" "" "" "0" "" "" "?" ""
"00074854" "" "" "" "1" "" "01695" "{PMID:Briggs 2001:11527935}" "" "?" "?" "" "" "0" "" "" "?" ""
"00074855" "" "" "" "1" "" "01695" "{PMID:Briggs 2001:11527935}" "" "?" "?" "" "" "0" "" "" "?" ""
"00074856" "" "" "" "1" "" "01695" "{PMID:Briggs 2001:11527935}" "2-generation family, 5 affected" "F" "?" "" "" "0" "" "" "?" ""
"00074857" "" "" "" "1" "" "01695" "{PMID:Briggs 2001:11527935}" "Sibling of 032-076; 2-generation family, 5 affected" "F" "?" "" "" "0" "" "" "?" ""
"00074858" "" "" "" "1" "" "01695" "{PMID:Briggs 2001:11527935}" "Sibling of 032-076; 2-generation family, 5 affected" "F" "?" "" "" "0" "" "" "?" ""
"00074859" "" "" "" "1" "" "01695" "{PMID:Briggs 2001:11527935}" "Sibling of 032-076; 2-generation family, 5 affected" "M" "?" "" "" "0" "" "" "?" ""
"00074860" "" "" "" "1" "" "01695" "{PMID:Briggs 2001:11527935}" "Sibling of 032-076; 2-generation family, 5 affected" "M" "?" "" "" "0" "" "" "?" ""
"00074861" "" "" "" "1" "" "01695" "{PMID:Briggs 2001:11527935}" "" "?" "?" "" "" "0" "" "" "?" ""
"00074862" "" "" "" "1" "" "01695" "{PMID:Briggs 2001:11527935}" "2-generation family, 2 affected" "M" "?" "" "" "0" "" "" "?" ""
"00074863" "" "" "" "1" "" "01695" "{PMID:Briggs 2001:11527935}" "Sibling of 032-046; 2-generation family, 2 affected" "F" "?" "" "" "0" "" "" "?" ""
"00074864" "" "" "" "1" "" "01695" "{PMID:Briggs 2001:11527935}" "" "?" "?" "" "" "0" "" "" "?" ""
"00074865" "" "" "" "1" "" "01695" "{PMID:Briggs 2001:11527935}" "" "?" "?" "" "" "0" "" "" "?" ""
"00074866" "" "" "" "1" "" "01695" "{PMID:Briggs 2001:11527935}" "2-generation family, 1 affected" "F" "?" "" "" "0" "" "" "?" ""
"00074867" "" "" "" "1" "" "01695" "{PMID:Briggs 2001:11527935}" "" "?" "?" "" "" "0" "" "" "?" ""
"00074868" "" "" "" "1" "" "01695" "{PMID:Briggs 2001:11527935}" "" "?" "?" "" "" "0" "" "" "?" ""
"00074869" "" "" "" "1" "" "01695" "{PMID:Briggs 2001:11527935}" "2-generation family, 1 affected" "F" "?" "" "" "0" "" "" "?" ""
"00074870" "" "" "" "1" "" "01695" "{PMID:Briggs 2001:11527935}" "2-generation family, 1 affected" "F" "?" "" "" "0" "" "" "?" ""
"00074871" "" "" "" "1" "" "01695" "{PMID:Briggs 2001:11527935}" "2-generation family, 2 affected" "M" "?" "" "" "0" "" "" "?" ""
"00074872" "" "" "" "1" "" "01695" "{PMID:Briggs 2001:11527935}" "Sibling of 032-011; 2-generation family, 2 affected" "M" "?" "" "" "0" "" "" "?" ""
"00074873" "" "" "" "1" "" "01695" "{PMID:Briggs 2001:11527935}" "" "?" "?" "" "" "0" "" "" "?" ""
"00074874" "" "" "" "1" "" "01695" "{PMID:Briggs 2001:11527935}" "" "?" "?" "" "" "0" "" "" "?" ""
"00074875" "" "" "" "1" "" "01695" "{PMID:Briggs 2001:11527935}" "" "?" "?" "" "" "0" "" "" "?" ""
"00074876" "" "" "" "1" "" "01695" "{PMID:Briggs 2001:11527935}" "" "?" "?" "" "" "0" "" "" "?" ""
"00074877" "" "" "" "1" "" "01695" "{PMID:Briggs 2001:11527935}" "" "?" "?" "" "" "0" "" "" "?" ""
"00074878" "" "" "" "1" "" "01695" "{PMID:Briggs 2001:11527935}" "" "?" "?" "" "" "0" "" "" "?" ""
"00074879" "" "" "" "1" "" "01695" "{PMID:Briggs 2001:11527935}" "" "?" "?" "" "" "0" "" "" "?" ""
"00074880" "" "" "" "1" "" "01695" "{PMID:Briggs 2001:11527935}" "2-generation family, 1 affected" "F" "?" "" "" "0" "" "" "?" ""
"00074881" "" "" "" "1" "" "01695" "{PMID:Briggs 2001:11527935}" "" "?" "?" "" "" "0" "" "" "?" ""
"00074882" "" "" "" "1" "" "01695" "{PMID:Briggs 2001:11527935}" "" "?" "?" "" "" "0" "" "" "?" ""
"00074883" "" "" "" "1" "" "01695" "{PMID:Briggs 2001:11527935}" "" "?" "?" "" "" "0" "" "" "?" ""
"00074884" "" "" "" "1" "" "01695" "{PMID:Briggs 2001:11527935}" "2-generation family, 1 affected" "M" "?" "" "" "0" "" "" "?" ""
"00074885" "" "" "" "1" "" "01695" "{PMID:Briggs 2001:11527935}" "2-generation family, 1 affected" "F" "?" "" "" "0" "" "" "?" ""
"00074886" "" "" "" "1" "" "01695" "{PMID:Briggs 2001:11527935}" "" "?" "?" "" "" "0" "" "" "?" ""
"00074887" "" "" "" "1" "" "01695" "{PMID:Briggs 2001:11527935}" "" "?" "?" "" "" "0" "" "" "?" ""
"00074888" "" "" "" "1" "" "01695" "{PMID:Briggs 2001:11527935}" "" "?" "?" "" "" "0" "" "" "?" ""
"00074889" "" "" "" "1" "" "01695" "{PMID:Briggs 2001:11527935}" "" "?" "?" "" "" "0" "" "" "?" ""
"00074890" "" "" "" "1" "" "01695" "{PMID:Briggs 2001:11527935}" "" "?" "?" "" "" "0" "" "" "?" ""
"00074891" "" "" "" "1" "" "01695" "{PMID:Briggs 2001:11527935}" "" "?" "?" "" "" "0" "" "" "?" ""
"00074892" "" "" "" "1" "" "01695" "{PMID:Briggs 2001:11527935}" "" "?" "?" "" "" "0" "" "" "?" ""
"00074893" "" "" "" "1" "" "01695" "{PMID:Briggs 2001:11527935}" "" "?" "?" "" "" "0" "" "" "?" ""
"00074894" "" "" "" "1" "" "01695" "{PMID:Briggs 2001:11527935}" "" "?" "?" "" "" "0" "" "" "?" ""
"00074895" "" "" "" "1" "" "01695" "{PMID:Briggs 2001:11527935}" "" "?" "?" "" "" "0" "" "" "?" ""
"00074896" "" "" "" "1" "" "01695" "{PMID:Briggs 2001:11527935}" "" "?" "?" "" "" "0" "" "" "?" ""
"00074897" "" "" "" "1" "" "01695" "{PMID:Briggs 2001:11527935}" "" "?" "?" "" "" "0" "" "" "?" ""
"00074898" "" "" "" "1" "" "01695" "{PMID:Briggs 2001:11527935}" "" "?" "?" "" "" "0" "" "" "?" ""
"00074899" "" "" "" "1" "" "01695" "{PMID:Briggs 2001:11527935}" "" "?" "?" "" "" "0" "" "" "?" ""
"00074900" "" "" "" "1" "" "01695" "{PMID:Briggs 2001:11527935}" "" "?" "?" "" "" "0" "" "" "?" ""
"00074901" "" "" "" "1" "" "01695" "{PMID:Briggs 2001:11527935}" "" "?" "?" "" "" "0" "" "" "?" ""
"00074902" "" "" "" "1" "" "01695" "{PMID:Briggs 2001:11527935}" "" "?" "?" "" "" "0" "" "" "?" ""
"00074903" "" "" "" "1" "" "01695" "{PMID:Briggs 2001:11527935}" "" "?" "?" "" "" "0" "" "" "?" ""
"00074904" "" "" "" "1" "" "01695" "{PMID:Briggs 2001:11527935}" "" "?" "?" "" "" "0" "" "" "?" ""
"00074905" "" "" "" "1" "" "01695" "{PMID:Briggs 2001:11527935}" "" "?" "?" "" "" "0" "" "" "?" ""
"00074906" "" "" "" "1" "" "01695" "{PMID:Briggs 2001:11527935}" "" "?" "?" "" "" "0" "" "" "?" ""
"00074907" "" "" "" "1" "" "01695" "{PMID:Briggs 2001:11527935}" "2-generation family, 3 affected" "F" "yes" "" "" "0" "" "" "?" ""
"00074908" "" "" "" "1" "" "01695" "{PMID:Briggs 2001:11527935}" "Sibling from 032-030; 2-generation family, 3 affected" "M" "yes" "" "" "0" "" "" "?" ""
"00074909" "" "" "" "1" "" "01695" "{PMID:Briggs 2001:11527935}" "Sibling from 032-030; 2-generation family, 3 affected" "M" "yes" "" "" "0" "" "" "?" ""
"00074910" "" "" "" "1" "" "01695" "{PMID:Briggs 2001:11527935}" "2-generation family, 1 affected" "M" "?" "" "" "0" "" "" "?" ""
"00074911" "" "" "" "1" "" "01695" "{PMID:Briggs 2001:11527935}" "" "?" "?" "" "" "0" "" "" "?" ""
"00074912" "" "" "" "1" "" "01695" "{PMID:Briggs 2001:11527935}" "" "?" "?" "" "" "0" "" "" "?" ""
"00074913" "" "" "" "1" "" "01695" "{PMID:Briggs 2001:11527935}" "" "?" "?" "" "" "0" "" "" "?" ""
"00074914" "" "" "" "1" "" "01695" "{PMID:Briggs 2001:11527935}" "" "?" "?" "" "" "0" "" "" "?" ""
"00074915" "" "" "" "1" "" "01695" "{PMID:Briggs 2001:11527935}" "" "?" "?" "" "" "0" "" "" "?" ""
"00074916" "" "" "" "1" "" "01695" "{PMID:Briggs 2001:11527935}" "3-generation family, 2 affected" "F" "?" "" "" "0" "" "" "?" ""
"00074917" "" "" "" "1" "" "01695" "{PMID:Briggs 2001:11527935}" "Sibling of 032-003; 3-generation family, 2 affected" "F" "?" "" "" "0" "" "" "?" ""
"00074918" "" "" "" "1" "" "01695" "{PMID:Briggs 2001:11527935}" "" "?" "?" "" "" "0" "" "" "?" ""
"00074919" "" "" "" "1" "" "01695" "{PMID:Briggs 2001:11527935}" "" "?" "?" "" "" "0" "" "" "?" ""
"00074920" "" "" "" "1" "" "01695" "{PMID:Briggs 2001:11527935}" "" "?" "?" "" "" "0" "" "" "?" ""
"00074921" "" "" "" "1" "" "01695" "{PMID:Briggs 2001:11527935}" "" "?" "?" "" "" "0" "" "" "?" ""
"00074922" "" "" "" "1" "" "01695" "{PMID:Briggs 2001:11527935}" "" "?" "?" "" "" "0" "" "" "?" ""
"00074923" "" "" "" "1" "" "01695" "{PMID:Briggs 2001:11527935}" "" "?" "?" "" "" "0" "" "" "?" ""
"00074924" "" "" "" "1" "" "01695" "{PMID:Briggs 2001:11527935}" "" "?" "?" "" "" "0" "" "" "?" ""
"00074925" "" "" "" "1" "" "01695" "{PMID:Briggs 2001:11527935}" "" "?" "?" "" "" "0" "" "" "?" ""
"00074926" "" "" "" "1" "" "01695" "{PMID:Briggs 2001:11527935}" "3-generation family, 4 affected" "M" "?" "" "" "0" "" "" "?" ""
"00074927" "" "" "" "1" "" "01695" "{PMID:Briggs 2001:11527935}" "Nephew of 032-045; 3-generation family, 4 affected" "M" "?" "" "" "0" "" "" "?" ""
"00074928" "" "" "" "1" "" "01695" "{PMID:Briggs 2001:11527935}" "" "?" "?" "" "" "0" "" "" "?" ""
"00074929" "" "" "" "1" "" "01695" "{PMID:Briggs 2001:11527935}" "" "?" "?" "" "" "0" "" "" "?" ""
"00074930" "" "" "" "1" "" "01695" "{PMID:Briggs 2001:11527935}" "" "?" "?" "" "" "0" "" "" "?" ""
"00074931" "" "" "" "1" "" "01695" "{PMID:Lewis 1999:9973280}" "2-generation family, 4 affected" "F" "?" "United States" "" "0" "" "" "white" ""
"00074932" "" "" "" "1" "" "01695" "{PMID:Lewis 1999:9973280}" "2-generation family, 4 affected" "M" "?" "United States" "" "0" "" "" "white" ""
"00074933" "" "" "" "1" "" "01695" "{PMID:Lewis 1999:9973280}" "2-generation family, 4 affected" "M" "?" "United States" "" "0" "" "" "white" ""
"00074934" "" "" "" "1" "" "01695" "{PMID:Lewis 1999:9973280}" "2-generation family, 4 affected" "F" "?" "United States" "" "0" "" "" "white" ""
"00074935" "" "" "" "1" "" "01695" "{PMID:Lewis 1999:9973280}" "3-generation family, 2 affected" "F" "?" "United States" "" "0" "" "" "white" ""
"00074936" "" "" "" "1" "" "01695" "{PMID:Lewis 1999:9973280}" "3-generation family, 2 affected" "F" "?" "United States" "" "0" "" "" "white" ""
"00074937" "" "" "" "1" "" "01695" "{PMID:Lewis 1999:9973280}" "3-generation family, 3 affected" "F" "?" "United States" "" "0" "" "" "white" ""
"00074938" "" "" "" "1" "" "01695" "{PMID:Lewis 1999:9973280}" "3-generation family, 3 affected" "F" "?" "United States" "" "0" "" "" "white" ""
"00074939" "" "" "" "1" "" "01695" "{PMID:Lewis 1999:9973280}" "3-generation family, 1 affected" "M" "?" "United States" "" "0" "" "" "white" ""
"00074940" "" "" "" "1" "" "01695" "{PMID:Lewis 1999:9973280}" "3-generation family, 1 affected" "M" "?" "United States" "" "0" "" "" "white" ""
"00074941" "" "" "" "1" "" "01695" "{PMID:Lewis 1999:9973280}" "" "?" "?" "United States" "" "0" "" "" "white" ""
"00074942" "" "" "" "1" "" "01695" "{PMID:Lewis 1999:9973280}" "3-generation family, 2 affected" "M" "?" "United States" "" "0" "" "" "white" ""
"00074943" "" "" "" "1" "" "01695" "{PMID:Lewis 1999:9973280}" "4-generation family, 1 affected" "M" "?" "United States" "" "0" "" "" "white" ""
"00074944" "" "" "" "1" "" "01695" "{PMID:Lewis 1999:9973280}" "3-generation family, 2 affected" "?" "?" "United States" "" "0" "" "" "white" ""
"00074945" "" "" "" "1" "" "01695" "{PMID:Lewis 1999:9973280}" "" "?" "?" "United States" "" "0" "" "" "white" ""
"00074946" "" "" "" "1" "" "01695" "{PMID:Lewis 1999:9973280}" "3-generation family, 1 affected" "F" "?" "United States" "" "0" "" "" "white" ""
"00074947" "" "" "" "1" "" "01695" "{PMID:Lewis 1999:9973280}" "3-generation family, 1 affected" "F" "?" "United States" "" "0" "" "" "white" ""
"00074948" "" "" "" "1" "" "01695" "{PMID:Lewis 1999:9973280}" "3-generation family, 2 affected" "?" "?" "United States" "" "0" "" "" "white" ""
"00074949" "" "" "" "1" "" "01695" "{PMID:Lewis 1999:9973280}" "3-generation family, 2 affected" "?" "?" "United States" "" "0" "" "" "white" ""
"00074950" "" "" "" "1" "" "01695" "{PMID:Lewis 1999:9973280}" "3-generation family, 4 affected" "F" "?" "United States" "" "0" "" "" "white" ""
"00074951" "" "" "" "1" "" "01695" "{PMID:Lewis 1999:9973280}" "3-generation family, 1 affected" "M" "?" "United States" "" "0" "" "" "white" ""
"00074952" "" "" "" "1" "" "01695" "{PMID:Lewis 1999:9973280}" "3-generation family, 1 affected" "F" "?" "United States" "" "0" "" "" "white" ""
"00074953" "" "" "" "1" "" "01695" "{PMID:Lewis 1999:9973280}" "3-generation family, 4 affected" "M" "?" "United States" "" "0" "" "" "white" ""
"00074954" "" "" "" "1" "" "01695" "{PMID:Lewis 1999:9973280}" "3-generation family, 1 affected" "M" "?" "United States" "" "0" "" "" "white" ""
"00074955" "" "" "" "1" "" "01695" "{PMID:Lewis 1999:9973280}" "3-generation family, 1 affected" "M" "?" "United States" "" "0" "" "" "white" ""
"00074956" "" "" "" "1" "" "01695" "{PMID:Lewis 1999:9973280}" "3-generation family, 2 affected" "M" "?" "United States" "" "0" "" "" "white" ""
"00074957" "" "" "" "1" "" "01695" "{PMID:Lewis 1999:9973280}" "" "?" "?" "United States" "" "0" "" "" "white" ""
"00074958" "" "" "" "1" "" "01695" "{PMID:Lewis 1999:9973280}" "3-generation family, 1 affected" "M" "?" "United States" "" "0" "" "" "white" ""
"00074959" "" "" "" "1" "" "01695" "{PMID:Lewis 1999:9973280}" "3-generation family, 1 affected" "M" "?" "United States" "" "0" "" "" "white" ""
"00074960" "" "" "" "1" "" "01695" "{PMID:Lewis 1999:9973280}" "3-generation family, 1 affected" "F" "?" "United States" "" "0" "" "" "white" ""
"00074961" "" "" "" "1" "" "01695" "{PMID:Lewis 1999:9973280}, {PMID:Shroyer 2001:11726554}" "3-generation family, 6 affected" "F" "?" "United States" "" "0" "" "" "white" ""
"00074962" "" "" "" "1" "" "01695" "{PMID:Lewis 1999:9973280}, {PMID:Shroyer 2001:11726554}" "3-generation family, 6 affected" "M" "?" "United States" "" "0" "" "" "white" ""
"00074963" "" "" "" "1" "" "01695" "{PMID:Lewis 1999:9973280}, {PMID:Shroyer 2001:11726554}" "3-generation family, 6 affected" "F" "?" "United States" "" "0" "" "" "white" ""
"00074964" "" "" "" "1" "" "01695" "{PMID:Lewis 1999:9973280}, {PMID:Shroyer 2001:11726554}" "3-generation family, 6 affected" "F" "?" "United States" "" "0" "" "" "white" ""
"00074965" "" "" "" "1" "" "01695" "{PMID:Lewis 1999:9973280}, {PMID:Shroyer 2001:11726554}" "3-generation family, 6 affected" "M" "?" "United States" "" "0" "" "" "white" ""
"00074966" "" "" "" "1" "" "01695" "{PMID:Lewis 1999:9973280}, {PMID:Shroyer 2001:11726554}" "3-generation family, 6 affected" "M" "?" "United States" "" "0" "" "" "white" ""
"00074967" "" "" "" "1" "" "01695" "{PMID:Lewis 1999:9973280}" "3-generation family, 1 affected" "M" "?" "United States" "" "0" "" "" "white" ""
"00074968" "" "" "" "1" "" "01695" "{PMID:Lewis 1999:9973280}" "" "?" "?" "United States" "" "0" "" "" "white" ""
"00074969" "" "" "" "1" "" "01695" "{PMID:Lewis 1999:9973280}" "3-generation family, 1 affected" "F" "?" "United States" "" "0" "" "" "white" ""
"00074970" "" "" "" "1" "" "01695" "{PMID:Lewis 1999:9973280}" "3-generation family, 1 affected" "F" "?" "United States" "" "0" "" "" "white" ""
"00074971" "" "" "" "1" "" "01695" "{PMID:Lewis 1999:9973280}" "" "?" "?" "United States" "" "0" "" "" "white" ""
"00074972" "" "" "" "1" "" "01695" "{PMID:Lewis 1999:9973280}" "3-generation family, 1 affected" "F" "?" "United States" "" "0" "" "" "white" ""
"00074973" "" "" "" "1" "" "01695" "{PMID:Lewis 1999:9973280}" "" "?" "?" "United States" "" "0" "" "" "white" ""
"00074974" "" "" "" "1" "" "01695" "{PMID:Lewis 1999:9973280}" "2-generation family, 3 affected" "?" "?" "United States" "" "0" "" "" "white" ""
"00074975" "" "" "" "1" "" "01695" "{PMID:Lewis 1999:9973280}" "2-generation family, 3 affected" "?" "?" "United States" "" "0" "" "" "white" ""
"00074976" "" "" "" "1" "" "01695" "{PMID:Lewis 1999:9973280}" "2-generation family, 3 affected" "?" "?" "United States" "" "0" "" "" "white" ""
"00074977" "" "" "" "1" "" "01695" "{PMID:Lewis 1999:9973280}" "" "?" "?" "United States" "" "0" "" "" "white" ""
"00074978" "" "" "" "1" "" "01695" "{PMID:Lewis 1999:9973280}" "4-generation family, 3 affected" "?" "?" "United States" "" "0" "" "" "white" ""
"00074979" "" "" "" "1" "" "01695" "{PMID:Lewis 1999:9973280}" "" "?" "?" "United States" "" "0" "" "" "white" ""
"00074980" "" "" "" "1" "" "01695" "{PMID:Wang 2014:24154662}" "Also the mutation c.1622T>C, p.Leu541Pro was identified in this patient." "?" "?" "" "" "0" "" "" "?" ""
"00074981" "" "" "" "1" "" "01695" "{PMID:Wang 2014:24154662}" "" "?" "?" "" "" "0" "" "" "?" ""
"00074982" "" "" "" "1" "" "01695" "{PMID:Audo 2010:20333770}" "" "?" "?" "France" "" "0" "" "" "?" ""
"00074983" "" "" "" "1" "" "01695" "{PMID:Audo 2010:20333770}" "" "?" "yes" "France" "" "0" "" "" "?" ""
"00074984" "" "" "" "1" "" "01695" "{PMID:Audo 2010:20333770}" "" "F" "yes" "France" "" "0" "" "" "?" ""
"00074985" "" "" "" "1" "" "01695" "{PMID:Audo 2010:20333770}" "" "?" "yes" "France" "" "0" "" "" "?" ""
"00074986" "" "" "" "1" "" "01695" "{PMID:Audo 2010:20333770}" "" "?" "?" "France" "" "0" "" "" "?" ""
"00074987" "" "" "" "1" "" "01695" "{PMID:Audo 2010:20333770}" "" "?" "yes" "France" "" "0" "" "" "?" ""
"00074988" "" "" "" "1" "" "01695" "{PMID:Audo 2010:20333770}" "" "?" "?" "France" "" "0" "" "" "?" ""
"00074989" "" "" "" "1" "" "01695" "{PMID:Audo 2010:20333770}" "" "?" "yes" "France" "" "0" "" "" "?" ""
"00074990" "" "" "" "1" "" "01695" "{PMID:Audo 2010:20333770}" "" "?" "yes" "France" "" "0" "" "" "?" ""
"00074991" "" "" "" "1" "" "01695" "{PMID:Audo 2010:20333770}" "" "M" "yes" "France" "" "0" "" "" "?" ""
"00074992" "" "" "" "1" "" "01695" "{PMID:Audo 2010:20333770}" "" "M" "yes" "France" "" "0" "" "" "?" ""
"00074993" "" "" "" "1" "" "01695" "{PMID:Audo 2010:20333770}" "" "?" "?" "France" "" "0" "" "" "?" ""
"00074994" "" "" "" "1" "" "01695" "{PMID:Audo 2010:20333770}" "" "?" "?" "France" "" "0" "" "" "?" ""
"00074995" "" "" "" "1" "" "01695" "{PMID:Audo 2010:20333770}" "" "?" "yes" "France" "" "0" "" "" "?" ""
"00074996" "" "" "" "1" "" "01695" "{PMID:Audo 2010:20333770}" "" "?" "yes" "France" "" "0" "" "" "?" ""
"00074997" "" "" "" "1" "" "01695" "{PMID:Audo 2010:20333770}" "" "?" "" "France" "" "0" "" "" "?" ""
"00074998" "" "" "" "1" "" "01695" "{PMID:Audo 2010:20333770}" "" "?" "?" "France" "" "0" "" "" "?" ""
"00074999" "" "" "" "1" "" "01695" "{PMID:Audo 2010:20333770}" "" "?" "?" "France" "" "0" "" "" "?" ""
"00075000" "" "" "" "1" "" "01695" "{PMID:Audo 2010:20333770}" "" "?" "" "France" "" "0" "" "" "?" ""
"00075001" "" "" "" "1" "" "01695" "{PMID:Audo 2010:20333770}" "" "?" "" "France" "" "0" "" "" "?" ""
"00075002" "" "" "" "1" "" "01695" "{PMID:Audo 2010:20333770}" "" "?" "" "France" "" "0" "" "" "?" ""
"00075003" "" "" "" "1" "" "01695" "{PMID:Audo 2010:20333770}" "" "?" "" "France" "" "0" "" "" "?" ""
"00075004" "" "" "" "1" "" "01695" "{PMID:Audo 2010:20333770}" "" "?" "" "France" "" "0" "" "" "?" ""
"00075005" "" "" "" "1" "" "01695" "{PMID:Audo 2010:20333770}" "" "?" "" "France" "" "0" "" "" "?" ""
"00075006" "" "" "" "1" "" "01695" "{PMID:Audo 2010:20333770}" "" "?" "" "France" "" "0" "" "" "?" ""
"00075007" "" "" "" "1" "" "01695" "{PMID:Allikmets 1997:9295268}" "" "?" "" "" "" "0" "" "" "?" ""
"00075008" "" "" "" "1" "" "01695" "{PMID:Allikmets 1997:9295268}" "" "?" "" "" "" "0" "" "" "?" ""
"00075009" "" "" "" "1" "" "01695" "{PMID:Martinez-Mir 1998:9425888}" "2-generation family, 6 affected" "F" "yes" "" "" "0" "" "" "?" ""
"00075010" "" "" "" "1" "" "01695" "{PMID:Martinez-Mir 1998:9425888}" "2-generation family, 6 affected" "F" "yes" "" "" "0" "" "" "?" ""
"00075011" "" "" "" "1" "" "01695" "{PMID:Martinez-Mir 1998:9425888}" "2-generation family, 6 affected" "F" "yes" "" "" "0" "" "" "?" ""
"00075012" "" "" "" "1" "" "01695" "{PMID:Martinez-Mir 1998:9425888}" "2-generation family, 6 affected" "M" "yes" "" "" "0" "" "" "?" ""
"00075013" "" "" "" "1" "" "01695" "{PMID:Martinez-Mir 1998:9425888}" "2-generation family, 6 affected" "F" "yes" "" "" "0" "" "" "?" ""
"00075014" "" "" "" "1" "" "01695" "{PMID:Martinez-Mir 1998:9425888}" "2-generation family, 6 affected" "F" "yes" "" "" "0" "" "" "?" ""
"00075015" "" "" "" "1" "" "01695" "{PMID:Cremers 1998:9466990}, {PMID:Klevering 1999:10413692}" "5-generation family, 9 affected" "F" "yes" "" "" "0" "" "" "?" ""
"00075016" "" "" "" "1" "" "01695" "{PMID:Cremers 1998:9466990}, {PMID:Klevering 1999:10413692}" "5-generation family, 9 affected" "F" "yes" "" "" "0" "" "" "?" ""
"00075017" "" "" "" "1" "" "01695" "{PMID:Cremers 1998:9466990}" "5-generation family, 9 affected" "M" "yes" "" "" "0" "" "" "?" ""
"00075018" "" "" "" "1" "" "01695" "{PMID:Cremers 1998:9466990}, {PMID:Klevering 1999:10413692}" "5-generation family, 9 affected" "M" "yes" "" "" "0" "" "" "?" ""
"00075019" "" "" "" "1" "" "01695" "{PMID:Cremers 1998:9466990}" "5-generation family, 9 affected" "M" "yes" "" "" "0" "" "" "?" ""
"00075020" "" "" "" "1" "" "01695" "{PMID:Cremers 1998:9466990}" "5-generation family, 9 affected" "M" "yes" "" "" "0" "" "" "?" ""
"00075021" "" "" "" "1" "" "01695" "{PMID:Cremers 1998:9466990}, {PMID:Klevering 1999:10413692}" "5-generation family, 9 affected" "F" "yes" "" "" "0" "" "" "?" ""
"00075022" "" "" "" "1" "" "01695" "{PMID:Cremers 1998:9466990}, {PMID:Klevering 1999:10413692}" "5-generation family, 9 affected" "F" "yes" "" "" "0" "" "" "?" ""
"00075023" "" "" "" "1" "" "01695" "{PMID:Cremers 1998:9466990}" "5-generation family, 9 affected" "M" "yes" "" "" "0" "" "" "?" ""
"00075024" "" "" "" "1" "" "01695" "{PMID:Cremers 1998:9466990}" "" "?" "?" "" "" "0" "" "" "?" ""
"00075025" "" "" "" "1" "" "01695" "{PMID:Cremers 1998:9466990}" "" "?" "?" "" "" "0" "" "" "?" ""
"00075026" "" "" "" "1" "" "01695" "{PMID:Nasonkin 1998:9490294}" "2-generation family, 2 affected" "M" "?" "" "" "0" "" "" "white" ""
"00075027" "" "" "" "1" "" "01695" "{PMID:Nasonkin 1998:9490294}" "2-generation family, 2 affected" "F" "?" "" "" "0" "" "" "white" ""
"00075028" "" "" "" "1" "" "01695" "{PMID:Nasonkin 1998:9490294}" "2-generation family, 2 affected" "M" "?" "" "" "0" "" "" "white" ""
"00075029" "" "" "" "1" "" "01695" "{PMID:Nasonkin 1998:9490294}" "2-generation family, 2 affected" "F" "?" "" "" "0" "" "" "white" ""
"00075030" "" "" "" "1" "" "01695" "{PMID:Nasonkin 1998:9490294}" "2-generation family, 1 affected" "M" "?" "" "" "0" "" "" "white" ""
"00075031" "" "" "" "1" "" "01695" "{PMID:Nasonkin 1998:9490294}" "2-generation family, 2 affected" "F" "?" "" "" "0" "" "" "Chinese" ""
"00075032" "" "" "" "1" "" "01695" "{PMID:Nasonkin 1998:9490294}" "2-generation family, 2 affected" "M" "?" "" "" "0" "" "" "Chinese" ""
"00075033" "" "" "" "1" "" "01695" "{PMID:Gerber 1997:9503029}" "" "?" "?" "" "" "0" "" "" "?" ""
"00075034" "" "" "" "1" "" "01695" "{PMID:Gerber 1997:9503029}" "" "?" "?" "" "" "0" "" "" "?" ""
"00075035" "" "" "" "1" "" "01695" "{PMID:Gerber 1997:9503029}" "" "?" "?" "France" "" "0" "" "" "?" ""
"00075036" "" "" "" "1" "" "01695" "{PMID:Gerber 1997:9503029}" "" "?" "?" "Germany" "" "0" "" "" "?" ""
"00075037" "" "" "" "1" "" "01695" "{PMID:Kaplan 1993:8275096}" "" "?" "yes" "" "" "0" "" "" "Morrocan" ""
"00075038" "" "" "" "1" "" "01695" "{PMID:Kaplan 1993:8275096}" "" "?" "?" "" "" "0" "" "" "" ""
"00075039" "" "" "" "1" "" "01695" "{PMID:Kaplan 1993:8275096}" "" "?" "?" "" "" "0" "" "" "" ""
"00075040" "" "" "" "1" "" "01695" "{PMID:Kaplan 1993:8275096}" "" "?" "?" "" "" "0" "" "" "" ""
"00075041" "" "" "" "1" "" "01695" "{PMID:Kaplan 1993:8275096}" "" "?" "?" "" "" "0" "" "" "" ""
"00075042" "" "" "" "1" "" "01695" "{PMID:Kaplan 1993:8275096}" "" "?" "?" "" "" "0" "" "" "" ""
"00075043" "" "" "" "1" "" "01695" "{PMID:Kaplan 1993:8275096}" "" "?" "?" "" "" "0" "" "" "" ""
"00075044" "" "" "" "1" "" "01695" "{PMID:Kaplan 1993:8275096}" "" "?" "?" "" "" "0" "" "" "" ""
"00075045" "" "" "" "1" "" "01695" "{PMID:Kaplan 1993:8275096}" "" "?" "?" "" "" "0" "" "" "" ""
"00075046" "" "" "" "1" "" "01695" "{PMID:Kaplan 1993:8275096}" "" "?" "?" "" "" "0" "" "" "" ""
"00075047" "" "" "" "1" "" "01695" "{PMID:Kaplan 1993:8275096}" "" "?" "?" "" "" "0" "" "" "" ""
"00075048" "" "" "" "1" "" "01695" "{PMID:Kaplan 1993:8275096}" "" "?" "?" "" "" "0" "" "" "" ""
"00075049" "" "" "" "1" "" "01695" "{PMID:Kaplan 1993:8275096}" "" "?" "?" "" "" "0" "" "" "" ""
"00075050" "" "" "" "1" "" "01695" "{PMID:Kaplan 1993:8275096}" "" "?" "?" "" "" "0" "" "" "" ""
"00075051" "" "" "" "1" "" "01695" "{PMID:Kaplan 1993:8275096}" "" "?" "?" "" "" "0" "" "" "" ""
"00075052" "" "" "" "1" "" "01695" "{PMID:Kaplan 1993:8275096}" "" "?" "?" "" "" "0" "" "" "" ""
"00075053" "" "" "" "1" "" "01695" "{PMID:Kaplan 1993:8275096}" "" "?" "?" "" "" "0" "" "" "" ""
"00075054" "" "" "" "1" "" "01695" "{PMID:Kaplan 1993:8275096}" "" "?" "?" "" "" "0" "" "" "" ""
"00075055" "" "" "" "1" "" "01695" "{PMID:Kaplan 1993:8275096}" "" "?" "?" "" "" "0" "" "" "" ""
"00075056" "" "" "" "1" "" "01695" "{PMID:Kaplan 1993:8275096}" "" "?" "?" "" "" "0" "" "" "" ""
"00075057" "" "" "" "1" "" "01695" "{PMID:Gerber 1995:7847373}" "Segregation analysis wasn\'t done. However, as these mutations are often found together, it is likely that they are lying on the same allele here." "?" "?" "" "" "0" "" "" "" ""
"00075058" "" "" "" "1" "" "01695" "{PMID:Gerber 1995:7847373}" "" "?" "?" "" "" "0" "" "" "" ""
"00075059" "" "" "" "1" "" "01695" "{PMID:Gerber 1995:7847373}" "" "?" "?" "" "" "0" "" "" "" ""
"00075060" "" "" "" "1" "" "01695" "{PMID:Gerber 1995:7847373}" "" "?" "?" "" "" "0" "" "" "" ""
"00075061" "" "" "" "1" "" "01695" "{PMID:Gerber 1995:7847373}" "" "?" "?" "" "" "0" "" "" "" ""
"00075062" "" "" "" "1" "" "01695" "Gass JD. Stereoscopic Atlas of Macular Diseases:Diagnosis and Treatment. 4th ed. St. Louis:Mosby; 1997:326–332 {PMID:Testa 2012:22661472}" "5-generation family, 2 affected, published in {PMID:Simonelli 2005:15942264} as well" "M" "yes" "Italy" "" "0" "" "" "Italian, south" ""
"00075063" "" "" "" "1" "" "01695" "Gass JD. Stereoscopic Atlas of Macular Diseases:Diagnosis and Treatment. 4th ed. St. Louis:Mosby; 1997:326–332" "5-generation family, 2 affected, published in {PMID:Simonelli 2005:15942264} as well" "F" "yes" "Italy" "" "0" "" "" "Italian, south" ""
"00075064" "" "" "" "1" "" "01695" "Gass JD. Stereoscopic Atlas of Macular Diseases:Diagnosis and Treatment. 4th ed. St. Louis:Mosby; 1997:326–332" "3-generation family, 2 affected" "F" "?" "Italy" "" "0" "" "" "Italian, south" ""
"00075065" "" "" "" "1" "" "01695" "Gass JD. Stereoscopic Atlas of Macular Diseases:Diagnosis and Treatment. 4th ed. St. Louis:Mosby; 1997:326–332" "3-generation family, 2 affected" "M" "?" "Italy" "" "0" "" "" "Italian, south" ""
"00075066" "" "" "" "1" "" "01695" "{PMID:Simonelli 2000:10711710}" "3-generation family, 1 affected" "M" "?" "Italy" "" "0" "" "" "Italian, south" ""
"00075067" "" "" "" "1" "" "01695" "Gass JD. Stereoscopic Atlas of Macular Diseases:Diagnosis and Treatment. 4th ed. St. Louis:Mosby; 1997:326–332" "3-generation family, 2 affected" "F" "?" "Italy" "" "0" "" "" "Italian, south" ""
"00075068" "" "" "" "1" "" "01695" "Gass JD. Stereoscopic Atlas of Macular Diseases:Diagnosis and Treatment. 4th ed. St. Louis:Mosby; 1997:326–332" "3-generation family, 2 affected" "M" "?" "Italy" "" "0" "" "" "Italian, south" ""
"00075069" "" "" "" "1" "" "01695" "{PMID:Simonelli 2000:10711710}" "3-generation family, 1 affected" "M" "?" "Italy" "" "0" "" "" "Italian, south" ""
"00075070" "" "" "" "1" "" "01695" "{PMID:Simonelli 2000:10711710}, {PMID:Testa 2012:22661472}" "3-generation family, 1 affected" "F" "?" "Italy" "" "0" "" "" "Italian, south" ""
"00075071" "" "" "" "1" "" "01695" "Gass JD. Stereoscopic Atlas of Macular Diseases:Diagnosis and Treatment. 4th ed. St. Louis:Mosby; 1997:326–332" "3-generation family, 1 affected" "M" "?" "Italy" "" "0" "" "" "Italian, south" ""
"00075072" "" "" "" "1" "" "01695" "{PMID:Simonelli 2000:10711710}" "3-generation family, 2 affected" "F" "?" "Italy" "" "0" "" "" "Italian, south" ""
"00075073" "" "" "" "1" "" "01695" "{PMID:Simonelli 2000:10711710}" "3-generation family, 2 affected" "F" "?" "Italy" "" "0" "" "" "Italian, south" ""
"00075074" "" "" "" "1" "" "01695" "{PMID:Simonelli 2000:10711710}" "3-generation family, 2 affected" "M" "?" "Italy" "" "0" "" "" "Italian, south" ""
"00075075" "" "" "" "1" "" "01695" "{PMID:Simonelli 2000:10711710}" "3-generation family, 2 affected" "F" "?" "Italy" "" "0" "" "" "Italian, south" ""
"00075076" "" "" "" "1" "" "01695" "{PMID:Simonelli 2000:10711710}" "3-generation family, 1 affected" "F" "?" "Italy" "" "0" "" "" "Italian, south" ""
"00075077" "" "" "" "1" "" "01695" "{PMID:Klevering 2004:15494742}" "" "M" "?" "Netherlands;Germany" "" "0" "" "" "white" ""
"00075078" "" "" "" "1" "" "01695" "{PMID:Klevering 2004:15494742}" "" "F" "?" "Germany" "" "0" "" "" "white" ""
"00075079" "" "" "" "1" "" "01695" "{PMID:Klevering 2004:15494742}" "" "M" "?" "Netherlands;Germany" "" "0" "" "" "white" ""
"00075080" "" "" "" "1" "" "01695" "{PMID:Klevering 2004:15494742}" "" "F" "?" "Germany" "" "0" "" "" "white" ""
"00075081" "" "" "" "1" "" "01695" "{PMID:Klevering 2004:15494742}" "" "M" "?" "Netherlands;Germany" "" "0" "" "" "white" ""
"00075082" "" "" "" "1" "" "01695" "{PMID:Klevering 2004:15494742}" "" "F" "?" "Netherlands;Germany" "" "0" "" "" "white" ""
"00075083" "" "" "" "1" "" "01695" "{PMID:Klevering 2004:15494742}" "" "F" "?" "Netherlands;Germany" "" "0" "" "" "white" ""
"00075084" "" "" "" "1" "" "01695" "{PMID:Klevering 2004:15494742}" "" "F" "?" "Netherlands;Germany" "" "0" "" "" "white" ""
"00075085" "" "" "" "1" "" "01695" "{PMID:Klevering 2004:15494742}" "" "M" "?" "Netherlands;Germany" "" "0" "" "" "white" ""
"00075086" "" "" "" "1" "" "01695" "{PMID:Klevering 2004:15494742}" "" "F" "?" "Germany" "" "0" "" "" "white" ""
"00075087" "" "" "" "1" "" "01695" "{PMID:Klevering 2004:15494742}" "c.5381C>A, p.(Ala1794Asp) was found in this patient as well." "M" "?" "Netherlands;Germany" "" "0" "" "" "white" ""
"00075088" "" "" "" "1" "" "01695" "{PMID:Klevering 2004:15494742}" "" "M" "?" "Netherlands;Germany" "" "0" "" "" "white" ""
"00075089" "" "" "" "1" "" "01695" "{PMID:Klevering 2004:15494742}" "" "F" "?" "Germany" "" "0" "" "" "white" ""
"00075090" "" "" "" "1" "" "01695" "{PMID:Klevering 2004:15494742}" "" "M" "?" "Netherlands;Germany" "" "0" "" "" "white" ""
"00075091" "" "" "" "1" "" "01695" "{PMID:Klevering 2004:15494742}" "" "F" "?" "Netherlands;Germany" "" "0" "" "" "white" ""
"00075092" "" "" "" "1" "" "01695" "{PMID:Klevering 2004:15494742}" "" "F" "?" "Netherlands;Germany" "" "0" "" "" "white" ""
"00075093" "" "" "" "1" "" "01695" "{PMID:Klevering 2004:15494742}" "" "F" "?" "Netherlands;Germany" "" "0" "" "" "white" ""
"00075094" "" "" "" "1" "" "01695" "{PMID:Klevering 2004:15494742}" "" "F" "?" "Netherlands;Germany" "" "0" "" "" "white" ""
"00075095" "" "" "" "1" "" "01695" "{PMID:Klevering 2004:15494742}" "" "F" "?" "Netherlands;Germany" "" "0" "" "" "white" ""
"00075096" "" "" "" "1" "" "01695" "{PMID:Klevering 2004:15494742}" "" "M" "?" "Netherlands;Germany" "" "0" "" "" "white" ""
"00075097" "" "" "" "1" "" "01695" "{PMID:Klevering 2004:15494742}" "" "F" "?" "Netherlands;Germany" "" "0" "" "" "white" ""
"00075098" "" "" "" "1" "" "01695" "{PMID:Klevering 2004:15494742}" "" "F" "?" "Netherlands;Germany" "" "0" "" "" "white" ""
"00075099" "" "" "" "1" "" "01695" "{PMID:Klevering 2004:15494742}" "" "F" "?" "Netherlands;Germany" "" "0" "" "" "white" ""
"00075100" "" "" "" "1" "" "01695" "{PMID:Zhang 1999:10612508}" "" "F" "?" "" "" "0" "" "" "white" ""
"00075101" "" "" "" "1" "" "01695" "{PMID:Zhang 1999:10612508}" "" "F" "?" "" "" "0" "" "" "white" ""
"00075102" "" "" "" "1" "" "01695" "{PMID:Zhang 1999:10612508}" "" "F" "?" "" "" "0" "" "" "white" ""
"00075103" "" "" "" "1" "" "01695" "{PMID:Zhang 1999:10612508}" "" "F" "?" "" "" "0" "" "" "white" ""
"00075104" "" "" "" "1" "" "01695" "{PMID:Paloma 2001:11385708}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00075105" "" "" "" "1" "" "01695" "{PMID:Paloma 2001:11385708}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00075106" "" "" "" "1" "" "01695" "{PMID:Paloma 2001:11385708}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00075107" "" "" "" "1" "" "01695" "{PMID:Rozet 1998:9781034}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00075108" "" "" "" "1" "" "01695" "{PMID:Rozet 1998:9781034}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00075109" "" "" "" "1" "" "01695" "{PMID:Rozet 1998:9781034}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00075110" "" "" "" "1" "" "01695" "{PMID:Rozet 1998:9781034}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00075111" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00075112" "" "" "" "1" "" "01695" "{PMID:Rozet 1998:9781034}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00075113" "" "" "" "1" "" "01695" "{PMID:Rozet 1998:9781034}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00075114" "" "" "" "1" "" "01695" "{PMID:Rozet 1998:9781034}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00075115" "" "" "" "1" "" "01695" "{PMID:Rozet 1998:9781034}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00075116" "" "" "" "1" "" "01695" "{PMID:Fishman 1999:10206579}" "" "M" "?" "" "" "0" "" "" "?" ""
"00075117" "" "" "" "1" "" "01695" "{PMID:Fishman 1999:10206579}" "" "M" "?" "" "" "0" "" "" "?" ""
"00075118" "" "" "" "1" "" "01695" "{PMID:Fishman 1999:10206579}" "" "M" "?" "" "" "0" "" "" "?" ""
"00075119" "" "" "" "1" "" "01695" "{PMID:Fishman 1999:10206579}, {PMID:Genead 2009:19578016}" "" "M" "?" "" "" "0" "" "" "white" ""
"00075120" "" "" "" "1" "" "01695" "{PMID:Fishman 1999:10206579}, {PMID:Genead 2009:19578016}" "" "F" "?" "" "" "0" "" "" "white" ""
"00075121" "" "" "" "1" "" "01695" "{PMID:Fishman 1999:10206579}, {PMID:Kang Derwent 2004:15223829}, {PMID:Genead 2009:19578016}" "" "M" "?" "" "" "0" "" "" "white" ""
"00075122" "" "" "" "1" "" "01695" "{PMID:Fishman 1999:10206579}, {PMID:Genead 2009:19578016}" "" "F" "?" "" "" "0" "" "" "white" ""
"00075123" "" "" "" "1" "" "01695" "{PMID:Fishman 1999:10206579}, {PMID:Genead 2009:19578016}" "" "M" "?" "" "" "0" "" "" "white" ""
"00075124" "" "" "" "1" "" "01695" "{PMID:Fishman 1999:10206579}, {PMID:Genead 2009:19578016}" "" "F" "?" "" "" "0" "" "" "white" ""
"00075125" "" "" "" "1" "" "01695" "{PMID:Fishman 1999:10206579}, {PMID:Genead 2009:19578016}" "" "F" "?" "" "" "0" "" "" "white" ""
"00075126" "" "" "" "1" "" "01695" "{PMID:Fishman 1999:10206579}, {PMID:Kang Derwent 2004:15223829}" "" "M" "?" "" "" "0" "" "" "white" ""
"00075127" "" "" "" "1" "" "01695" "{PMID:Fishman 1999:10206579}" "" "M" "?" "" "" "0" "" "" "?" ""
"00075128" "" "" "" "1" "" "01695" "{PMID:Fishman 1999:10206579}" "" "M" "?" "" "" "0" "" "" "?" ""
"00075129" "" "" "" "1" "" "01695" "{PMID:Fishman 1999:10206579}" "" "F" "?" "" "" "0" "" "" "?" ""
"00075130" "" "" "" "1" "" "01695" "{PMID:Fishman 1999:10206579}, {PMID:Kang Derwent 2004:15223829}" "" "M" "?" "" "" "0" "" "" "?" ""
"00075131" "" "" "" "1" "" "01695" "{PMID:Fishman 1999:10206579}" "" "M" "?" "" "" "0" "" "" "?" ""
"00075132" "" "" "" "1" "" "01695" "{PMID:Fishman 1999:10206579}" "" "F" "?" "" "" "0" "" "" "?" ""
"00075133" "" "" "" "1" "" "01695" "{PMID:Fishman 1999:10206579}" "" "F" "?" "" "" "0" "" "" "?" ""
"00075134" "" "" "" "1" "" "01695" "{PMID:Fishman 1999:10206579}" "" "F" "?" "" "" "0" "" "" "?" ""
"00075135" "" "" "" "1" "" "01695" "{PMID:Fishman 1999:10206579}, {PMID:Kang Derwent 2004:15223829}" "" "F" "?" "" "" "0" "" "" "?" ""
"00075136" "" "" "" "1" "" "01695" "{PMID:Fishman 1999:10206579}" "" "M" "?" "" "" "0" "" "" "?" ""
"00075137" "" "" "" "1" "" "01695" "{PMID:Fishman 1999:10206579}" "" "M" "?" "" "" "0" "" "" "?" ""
"00075138" "" "" "" "1" "" "01695" "{PMID:Fishman 1999:10206579}" "" "F" "?" "" "" "0" "" "" "?" ""
"00075139" "" "" "" "1" "" "01695" "{PMID:Fishman 1999:10206579}" "" "F" "?" "" "" "0" "" "" "?" ""
"00075140" "" "" "" "1" "" "01695" "{PMID:Fishman 1999:10206579}" "" "F" "?" "" "" "0" "" "" "?" ""
"00075141" "" "" "" "1" "" "01695" "{PMID:Fishman 1999:10206579}" "" "M" "?" "" "" "0" "" "" "?" ""
"00075142" "" "" "" "1" "" "01695" "{PMID:Fishman 1999:10206579}, {PMID:Genead 2009:19578016}" "" "F" "?" "" "" "0" "" "" "white" ""
"00075143" "" "" "" "1" "" "01695" "{PMID:Fishman 1999:10206579}" "" "M" "?" "" "" "0" "" "" "?" ""
"00075144" "" "" "" "1" "" "01695" "{PMID:Fishman 1999:10206579}" "c.6320G>A, p.(Arg2107His) was also identified in this patient" "M" "?" "" "" "0" "" "" "?" ""
"00075145" "" "" "" "1" "" "01695" "{PMID:Zhang 1999:10486215}" "" "M" "?" "" "" "0" "" "" "?" ""
"00075146" "" "" "" "1" "" "01695" "{PMID:Lewis 1999:9973280}" "2-generation family, 2 affected" "F" "?" "United States" "" "0" "" "" "white" ""
"00075147" "" "" "" "1" "" "01695" "{PMID:Lewis 1999:9973280}" "2-generation family, 2 affected" "M" "?" "United States" "" "0" "" "" "white" ""
"00075148" "" "" "" "1" "" "01695" "{PMID:Lewis 1999:9973280}" "2-generation family, 1 affected" "F" "?" "United States" "" "0" "" "" "white" ""
"00075149" "" "" "" "1" "" "01695" "{PMID:Yatsenko 2003:12754711}" "2-generation family, 2 affected" "F" "?" "United States" "" "0" "" "" "white" ""
"00075150" "" "" "" "1" "" "01695" "{PMID:Lewis 1999:9973280}" "2-generation family, 1 affected" "F" "?" "United States" "" "0" "" "" "white" ""
"00075151" "" "" "" "1" "" "01695" "{PMID:Rozet 1999:10874631}" "2-generation family, 2 affected" "F" "?" "" "" "0" "" "" "?" ""
"00075152" "" "" "" "1" "" "01695" "{PMID:Rozet 1999:10874631}" "2-generation family, 2 affected" "F" "?" "" "" "0" "" "" "?" ""
"00075153" "" "" "" "1" "" "01695" "{PMID:Maugeri 2000:10958761}" "" "?" "?" "Netherlands;Germany" "" "0" "" "" "?" ""
"00075154" "" "" "" "1" "" "01695" "{PMID:Maugeri 2000:10958761}" "" "?" "?" "Netherlands;Germany" "" "0" "" "" "?" ""
"00075155" "" "" "" "1" "" "01695" "{PMID:Rivera 2000:10958763}" "" "?" "?" "Germany" "" "0" "" "" "?" ""
"00075156" "" "" "" "1" "" "01695" "{PMID:Rivera 2000:10958763}" "" "?" "?" "Germany" "" "0" "" "" "?" ""
"00075157" "" "" "" "1" "" "01695" "{PMID:Rivera 2000:10958763}" "" "?" "?" "Germany" "" "0" "" "" "?" ""
"00075158" "" "" "" "1" "" "01695" "{PMID:Rivera 2000:10958763}" "" "?" "?" "Germany" "" "0" "" "" "?" ""
"00075159" "" "" "" "1" "" "01695" "{PMID:Rivera 2000:10958763}" "" "?" "?" "Germany" "" "0" "" "" "?" ""
"00075160" "" "" "" "1" "" "01695" "{PMID:Rivera 2000:10958763}, {PMID:Gerth 2002:12192456}" "" "F" "?" "Germany" "" "0" "" "" "?" ""
"00075161" "" "" "" "1" "" "01695" "{PMID:Rivera 2000:10958763}, {PMID:Gerth 2002:12192456}" "" "M" "?" "Germany" "" "0" "" "" "?" ""
"00075162" "" "" "" "1" "" "01695" "{PMID:Rivera 2000:10958763}, {PMID:Gerth 2002:12192456}" "2-generation family, 2 affected" "F" "yes" "Germany" "" "0" "" "" "?" ""
"00075163" "" "" "" "1" "" "01695" "{PMID:Rivera 2000:10958763}, {PMID:Gerth 2002:12192456}" "2-generation family, 2 affected" "F" "yes" "Germany" "" "0" "" "" "?" ""
"00075164" "" "" "" "1" "" "01695" "{PMID:Rivera 2000:10958763}, {PMID:Gerth 2002:12192456}" "" "M" "?" "Germany" "" "0" "" "" "white" ""
"00075165" "" "" "" "1" "" "01695" "{PMID:Rivera 2000:10958763}" "" "?" "?" "Germany" "" "0" "" "" "?" ""
"00075166" "" "" "" "1" "" "01695" "{PMID:Rivera 2000:10958763}" "" "?" "?" "Germany" "" "0" "" "" "?" ""
"00075167" "" "" "" "1" "" "01695" "{PMID:Rivera 2000:10958763}, {PMID:Gerth 2002:12192456}" "" "M" "?" "Germany" "" "0" "" "" "?" ""
"00075168" "" "" "" "1" "" "01695" "{PMID:Rivera 2000:10958763}, {PMID:Gerth 2002:12192456}" "" "M" "?" "Germany" "" "0" "" "" "?" ""
"00075169" "" "" "" "1" "" "01695" "{PMID:Rivera 2000:10958763}" "" "?" "?" "Germany" "" "0" "" "" "?" ""
"00075170" "" "" "" "1" "" "01695" "{PMID:Rivera 2000:10958763}" "" "?" "?" "Germany" "" "0" "" "" "?" ""
"00075171" "" "" "" "1" "" "01695" "{PMID:Rivera 2000:10958763}" "" "?" "?" "Germany" "" "0" "" "" "?" ""
"00075172" "" "" "" "1" "" "01695" "{PMID:Rivera 2000:10958763}" "" "?" "?" "Germany" "" "0" "" "" "?" ""
"00075173" "" "" "" "1" "" "01695" "{PMID:Rivera 2000:10958763}" "" "?" "?" "Germany" "" "0" "" "" "?" ""
"00075174" "" "" "" "1" "" "01695" "{PMID:Rivera 2000:10958763}, {PMID:Gerth 2002:12192456}" "" "M" "?" "Germany" "" "0" "" "" "?" ""
"00075175" "" "" "" "1" "" "01695" "{PMID:Rivera 2000:10958763}" "" "?" "?" "Germany" "" "0" "" "" "?" ""
"00075176" "" "" "" "1" "" "01695" "{PMID:Rivera 2000:10958763}" "" "?" "?" "Germany" "" "0" "" "" "?" ""
"00075177" "" "" "" "1" "" "01695" "{PMID:Rivera 2000:10958763}" "" "?" "?" "Germany" "" "0" "" "" "?" ""
"00075178" "" "" "" "1" "" "01695" "{PMID:Rivera 2000:10958763}" "" "?" "?" "Germany" "" "0" "" "" "?" ""
"00075179" "" "" "" "1" "" "01695" "{PMID:Rivera 2000:10958763}" "" "?" "?" "Germany" "" "0" "" "" "?" ""
"00075180" "" "" "" "1" "" "01695" "{PMID:Rivera 2000:10958763}" "" "?" "?" "Germany" "" "0" "" "" "?" ""
"00075181" "" "" "" "1" "" "01695" "{PMID:Rivera 2000:10958763}" "" "?" "?" "Germany" "" "0" "" "" "?" ""
"00075182" "" "" "" "1" "" "01695" "{PMID:Rivera 2000:10958763}" "" "?" "?" "Germany" "" "0" "" "" "?" ""
"00075183" "" "" "" "1" "" "01695" "{PMID:Rivera 2000:10958763}" "" "?" "?" "Germany" "" "0" "" "" "?" ""
"00075184" "" "" "" "1" "" "01695" "{PMID:Rivera 2000:10958763}" "" "?" "?" "Germany" "" "0" "" "" "?" ""
"00075185" "" "" "" "1" "" "01695" "{PMID:Rivera 2000:10958763}" "" "?" "?" "Germany" "" "0" "" "" "?" ""
"00075186" "" "" "" "1" "" "01695" "{PMID:Rivera 2000:10958763}" "" "?" "?" "Germany" "" "0" "" "" "?" ""
"00075187" "" "" "" "1" "" "01695" "{PMID:Rivera 2000:10958763}" "" "?" "?" "Germany" "" "0" "" "" "?" ""
"00075188" "" "" "" "1" "" "01695" "{PMID:Rivera 2000:10958763}" "" "?" "?" "Germany" "" "0" "" "" "?" ""
"00075189" "" "" "" "1" "" "01695" "{PMID:Rivera 2000:10958763}, {PMID:Gerth 2002:12192456}" "" "F" "?" "Germany" "" "0" "" "" "?" ""
"00075190" "" "" "" "1" "" "01695" "{PMID:Rivera 2000:10958763}" "" "?" "?" "Germany" "" "0" "" "" "?" ""
"00075191" "" "" "" "1" "" "01695" "{PMID:Rivera 2000:10958763}" "" "?" "?" "Germany" "" "0" "" "" "?" ""
"00075192" "" "" "" "1" "" "01695" "{PMID:Rivera 2000:10958763}" "" "?" "?" "Germany" "" "0" "" "" "?" ""
"00075193" "" "" "" "1" "" "01695" "{PMID:Rivera 2000:10958763}" "" "?" "?" "Germany" "" "0" "" "" "?" ""
"00075194" "" "" "" "1" "" "01695" "{PMID:Rivera 2000:10958763}" "" "?" "?" "Germany" "" "0" "" "" "?" ""
"00075195" "" "" "" "1" "" "01695" "{PMID:Rivera 2000:10958763}, {PMID:Gerth 2002:12192456}" "" "F" "?" "Germany" "" "0" "" "" "?" ""
"00075196" "" "" "" "1" "" "01695" "{PMID:Rivera 2000:10958763}" "" "?" "?" "Germany" "" "0" "" "" "?" ""
"00075197" "" "" "" "1" "" "01695" "{PMID:Rivera 2000:10958763}" "" "?" "?" "Germany" "" "0" "" "" "?" ""
"00075198" "" "" "" "1" "" "01695" "{PMID:Rivera 2000:10958763}" "" "?" "?" "Germany" "" "0" "" "" "?" ""
"00075199" "" "" "" "1" "" "01695" "{PMID:Rivera 2000:10958763}" "" "?" "?" "Germany" "" "0" "" "" "?" ""
"00075200" "" "" "" "1" "" "01695" "{PMID:Rivera 2000:10958763}" "" "?" "?" "Germany" "" "0" "" "" "?" ""
"00075201" "" "" "" "1" "" "01695" "{PMID:Rivera 2000:10958763}" "" "?" "?" "Germany" "" "0" "" "" "?" ""
"00075202" "" "" "" "1" "" "01695" "{PMID:Rivera 2000:10958763}" "" "?" "?" "Germany" "" "0" "" "" "?" ""
"00075203" "" "" "" "1" "" "01695" "{PMID:Rivera 2000:10958763}" "" "?" "?" "Germany" "" "0" "" "" "?" ""
"00075204" "" "" "" "1" "" "01695" "{PMID:Rivera 2000:10958763}" "" "?" "?" "Germany" "" "0" "" "" "?" ""
"00075205" "" "" "" "1" "" "01695" "{PMID:Rivera 2000:10958763}" "" "?" "?" "Germany" "" "0" "" "" "?" ""
"00075206" "" "" "" "1" "" "01695" "{PMID:Rivera 2000:10958763}" "" "?" "?" "Germany" "" "0" "" "" "?" ""
"00075207" "" "" "" "1" "" "01695" "{PMID:Rivera 2000:10958763}" "" "?" "?" "Germany" "" "0" "" "" "?" ""
"00075208" "" "" "" "1" "" "01695" "{PMID:Rivera 2000:10958763}" "" "?" "?" "Germany" "" "0" "" "" "?" ""
"00075209" "" "" "" "1" "" "01695" "{PMID:Rivera 2000:10958763}" "" "?" "?" "Germany" "" "0" "" "" "?" ""
"00075210" "" "" "" "1" "" "01695" "{PMID:Rivera 2000:10958763}" "" "?" "?" "Germany" "" "0" "" "" "?" ""
"00075211" "" "" "" "1" "" "01695" "{PMID:Rivera 2000:10958763}" "" "?" "?" "Germany" "" "0" "" "" "?" ""
"00075212" "" "" "" "1" "" "01695" "{PMID:Rivera 2000:10958763}" "" "?" "?" "Germany" "" "0" "" "" "?" ""
"00075213" "" "" "" "1" "" "01695" "{PMID:Rivera 2000:10958763}, {PMID:Gerth 2002:12192456}" "" "F" "?" "Germany" "" "0" "" "" "?" ""
"00075214" "" "" "" "1" "" "01695" "{PMID:Rivera 2000:10958763}" "" "?" "?" "Germany" "" "0" "" "" "?" ""
"00075215" "" "" "" "1" "" "01695" "{PMID:Rivera 2000:10958763}" "" "?" "?" "Germany" "" "0" "" "" "?" ""
"00075216" "" "" "" "1" "" "01695" "{PMID:Rivera 2000:10958763}" "" "?" "?" "Germany" "" "0" "" "" "?" ""
"00075217" "" "" "" "1" "" "01695" "{PMID:Rivera 2000:10958763}" "" "?" "?" "Germany" "" "0" "" "" "?" ""
"00075218" "" "" "" "1" "" "01695" "{PMID:Rivera 2000:10958763}" "" "?" "?" "Germany" "" "0" "" "" "?" ""
"00075219" "" "" "" "1" "" "01695" "{PMID:Rivera 2000:10958763}" "" "?" "?" "Germany" "" "0" "" "" "?" ""
"00075220" "" "" "" "1" "" "01695" "{PMID:Rivera 2000:10958763}" "" "?" "?" "Germany" "" "0" "" "" "?" ""
"00075221" "" "" "" "1" "" "01695" "{PMID:Rivera 2000:10958763}" "c.3106G>A, p.(Glu1036Lys) and c.5714+5G>A, r.[=, 5714+5g>a; 5714_5715ins5714+1_5714+150] were also identified in this patient" "?" "?" "Germany" "" "0" "" "" "?" ""
"00075222" "" "" "" "1" "" "01695" "{PMID:Rivera 2000:10958763}" "" "?" "?" "Germany" "" "0" "" "" "?" ""
"00075223" "" "" "" "1" "" "01695" "{PMID:Rivera 2000:10958763}" "" "?" "?" "Germany" "" "0" "" "" "?" ""
"00075224" "" "" "" "1" "" "01695" "{PMID:Rivera 2000:10958763}" "" "?" "?" "Germany" "" "0" "" "" "?" ""
"00075225" "" "" "" "1" "" "01695" "{PMID:Rivera 2000:10958763}" "" "?" "?" "Germany" "" "0" "" "" "?" ""
"00075226" "" "" "" "1" "" "01695" "{PMID:Rivera 2000:10958763}" "" "?" "?" "Germany" "" "0" "" "" "?" ""
"00075227" "" "" "" "1" "" "01695" "{PMID:Rivera 2000:10958763}" "" "?" "?" "Germany" "" "0" "" "" "?" ""
"00075228" "" "" "" "1" "" "01695" "{PMID:Rivera 2000:10958763}" "" "?" "?" "Germany" "" "0" "" "" "?" ""
"00075229" "" "" "" "1" "" "01695" "{PMID:Rivera 2000:10958763}" "" "?" "?" "Germany" "" "0" "" "" "?" ""
"00075230" "" "" "" "1" "" "01695" "{PMID:Rivera 2000:10958763}" "" "?" "?" "Germany" "" "0" "" "" "?" ""
"00075231" "" "" "" "1" "" "01695" "{PMID:Rivera 2000:10958763}" "" "?" "?" "Germany" "" "0" "" "" "?" ""
"00075232" "" "" "" "1" "" "01695" "{PMID:Rivera 2000:10958763}" "" "?" "?" "Germany" "" "0" "" "" "?" ""
"00075233" "" "" "" "1" "" "01695" "{PMID:Rivera 2000:10958763}" "" "?" "?" "Germany" "" "0" "" "" "?" ""
"00075234" "" "" "" "1" "" "01695" "{PMID:Rivera 2000:10958763}" "" "?" "?" "Germany" "" "0" "" "" "?" ""
"00075235" "" "" "" "1" "" "01695" "{PMID:Rivera 2000:10958763}" "" "?" "?" "Germany" "" "0" "" "" "?" ""
"00075236" "" "" "" "1" "" "01695" "{PMID:Rivera 2000:10958763}" "" "?" "?" "Germany" "" "0" "" "" "?" ""
"00075237" "" "" "" "1" "" "01695" "{PMID:Rivera 2000:10958763}" "" "?" "?" "Germany" "" "0" "" "" "?" ""
"00075238" "" "" "" "1" "" "01695" "{PMID:Rivera 2000:10958763}" "" "?" "?" "Germany" "" "0" "" "" "?" ""
"00075239" "" "" "" "1" "" "01695" "{PMID:Rivera 2000:10958763}" "" "?" "?" "Germany" "" "0" "" "" "?" ""
"00075240" "" "" "" "1" "" "01695" "{PMID:Rivera 2000:10958763}" "" "?" "?" "Germany" "" "0" "" "" "?" ""
"00075241" "" "" "" "1" "" "01695" "{PMID:Rivera 2000:10958763}" "" "?" "?" "Germany" "" "0" "" "" "?" ""
"00075242" "" "" "" "1" "" "01695" "{PMID:Rivera 2000:10958763}" "" "?" "?" "Germany" "" "0" "" "" "?" ""
"00075243" "" "" "" "1" "" "01695" "{PMID:Rivera 2000:10958763}" "" "?" "?" "Germany" "" "0" "" "" "?" ""
"00075244" "" "" "" "1" "" "01695" "{PMID:Rivera 2000:10958763}" "" "?" "?" "Germany" "" "0" "" "" "?" ""
"00075245" "" "" "" "1" "" "01695" "{PMID:Rivera 2000:10958763}" "" "?" "?" "Germany" "" "0" "" "" "?" ""
"00075246" "" "" "" "1" "" "01695" "{PMID:Rivera 2000:10958763}" "" "?" "?" "Germany" "" "0" "" "" "?" ""
"00075247" "" "" "" "1" "" "01695" "{PMID:Rivera 2000:10958763}" "" "?" "?" "Germany" "" "0" "" "" "?" ""
"00075248" "" "" "" "1" "" "01695" "{PMID:Rivera 2000:10958763}" "" "?" "?" "Germany" "" "0" "" "" "?" ""
"00075249" "" "" "" "1" "" "01695" "{PMID:Rivera 2000:10958763}" "" "?" "?" "Germany" "" "0" "" "" "?" ""
"00075250" "" "" "" "1" "" "01695" "{PMID:Rivera 2000:10958763}" "" "?" "?" "Germany" "" "0" "" "" "?" ""
"00075251" "" "" "" "1" "" "01695" "{PMID:Rivera 2000:10958763}" "" "?" "?" "Germany" "" "0" "" "" "?" ""
"00075252" "" "" "" "1" "" "01695" "{PMID:Rivera 2000:10958763}" "" "?" "?" "Germany" "" "0" "" "" "?" ""
"00075253" "" "" "" "1" "" "01695" "{PMID:Rivera 2000:10958763}" "" "?" "?" "Germany" "" "0" "" "" "?" ""
"00075254" "" "" "" "1" "" "01695" "{PMID:Rivera 2000:10958763}" "" "?" "?" "Germany" "" "0" "" "" "?" ""
"00075255" "" "" "" "1" "" "01695" "{PMID:Rivera 2000:10958763}" "" "?" "?" "Germany" "" "0" "" "" "?" ""
"00075256" "" "" "" "1" "" "01695" "{PMID:Yatsenko 2001:11379881}" "2-generation family, 4 affected" "M" "yes" "United States" "" "0" "" "" "white" ""
"00075257" "" "" "" "1" "" "01695" "{PMID:Yatsenko 2001:11379881}" "2-generation family, 4 affected" "M" "yes" "United States" "" "0" "" "" "white" ""
"00075258" "" "" "" "1" "" "01695" "{PMID:Yatsenko 2001:11379881}" "2-generation family, 4 affected" "M" "yes" "United States" "" "0" "" "" "white" ""
"00075259" "" "" "" "1" "" "01695" "{PMID:Yatsenko 2001:11379881}" "2-generation family, 4 affected" "M" "yes" "United States" "" "0" "" "" "white" ""
"00075260" "" "" "" "1" "" "01695" "{PMID:Yatsenko 2001:11379881}" "2-generation family, 2 affected" "M" "?" "United States" "" "0" "" "" "white" ""
"00075261" "" "" "" "1" "" "01695" "{PMID:Yatsenko 2001:11379881}" "2-generation family, 2 affected" "M" "?" "United States" "" "0" "" "" "white" ""
"00075262" "" "" "" "1" "" "01695" "{PMID:Yatsenko 2001:11379881}" "2-generation family, 2 affected" "M" "?" "United States" "" "0" "" "" "white" ""
"00075263" "" "" "" "1" "" "01695" "{PMID:Yatsenko 2001:11379881}" "2-generation family, 2 affected" "M" "?" "United States" "" "0" "" "" "white" ""
"00075264" "" "" "" "1" "" "01695" "{PMID:Yatsenko 2001:11379881}" "2-generation family, 2 affected" "F" "?" "United States" "" "0" "" "" "white" ""
"00075265" "" "" "" "1" "" "01695" "{PMID:Yatsenko 2001:11379881}" "2-generation family, 2 affected" "F" "?" "United States" "" "0" "" "" "white" ""
"00075266" "" "" "" "1" "" "01695" "{PMID:Yatsenko 2001:11379881}" "2-generation family, 3 affected" "F" "?" "United States" "" "0" "" "" "white" ""
"00075267" "" "" "" "1" "" "01695" "{PMID:Yatsenko 2001:11379881}" "2-generation family, 3 affected" "F" "?" "United States" "" "0" "" "" "white" ""
"00075268" "" "" "" "1" "" "01695" "{PMID:Yatsenko 2001:11379881}" "2-generation family, 3 affected" "M" "?" "United States" "" "0" "" "" "white" ""
"00075269" "" "" "" "1" "" "01695" "{PMID:Yatsenko 2001:11379881}" "2-generation family, 1 affected" "F" "?" "United States" "" "0" "" "" "white" ""
"00075270" "" "" "" "1" "" "01695" "{PMID:Yatsenko 2001:11379881}" "2-generation family, 2 affected" "F" "?" "United States" "" "0" "" "" "white" ""
"00075271" "" "" "" "1" "" "01695" "{PMID:Yatsenko 2001:11379881}" "2-generation family, 2 affected" "M" "?" "United States" "" "0" "" "" "white" ""
"00075272" "" "" "" "1" "" "01695" "{PMID:Yatsenko 2001:11379881}" "2-generation family, 1 affected" "M" "?" "United States" "" "0" "" "" "white" ""
"00075273" "" "" "" "1" "" "01695" "{PMID:Yatsenko 2001:11379881}" "2-generation family, 2 affected" "F" "?" "United States" "" "0" "" "" "white" ""
"00075274" "" "" "" "1" "" "01695" "{PMID:Yatsenko 2001:11379881}" "2-generation family, 2 affected" "M" "?" "United States" "" "0" "" "" "white" ""
"00075275" "" "" "" "1" "" "01695" "{PMID:Yatsenko 2001:11379881}" "2-generation family, 1 affected" "F" "?" "United States" "" "0" "" "" "white" ""
"00075276" "" "" "" "1" "" "01695" "{PMID:Yatsenko 2001:11379881}" "2-generation family, 1 affected" "F" "?" "United States" "" "0" "" "" "white" ""
"00075277" "" "" "" "1" "" "01695" "{PMID:Yatsenko 2001:11379881}" "2-generation family, 1 affected" "M" "?" "United States" "" "0" "" "" "white" ""
"00075278" "" "" "" "1" "" "01695" "{PMID:Yatsenko 2001:11379881}" "2-generation family, 1 affected. On its own not significantely found more often in published STGD compared to ExAC (p-value 0.92). However, together with other non-significant variants published related to STGD, they are significantly more often in STGD patients (p-value <0.01)." "M" "?" "United States" "" "0" "" "" "white" ""
"00075279" "" "" "" "1" "" "01695" "{PMID:Yatsenko 2001:11379881}" "2-generation family, 1 affected" "M" "?" "United States" "" "0" "" "" "white" ""
"00075280" "" "" "" "1" "" "01695" "{PMID:Yatsenko 2001:11379881}" "2-generation family, 1 affected" "M" "?" "United States" "" "0" "" "" "white" ""
"00075281" "" "" "" "1" "" "01695" "{PMID:Yatsenko 2001:11379881}" "2-generation family, 4 affected" "F" "?" "United States" "" "0" "" "" "white" ""
"00075282" "" "" "" "1" "" "01695" "{PMID:Yatsenko 2001:11379881}" "2-generation family, 1 affected" "F" "?" "United States" "" "0" "" "" "white" ""
"00075283" "" "" "" "1" "" "01695" "{PMID:Yatsenko 2001:11379881}" "2-generation family, 5 affected" "F" "?" "United States" "" "0" "" "" "white" ""
"00075284" "" "" "" "1" "" "01695" "{PMID:Yatsenko 2001:11379881}" "2-generation family, 5 affected" "F" "?" "United States" "" "0" "" "" "white" ""
"00075285" "" "" "" "1" "" "01695" "{PMID:Yatsenko 2001:11379881}" "2-generation family, 5 affected" "M" "?" "United States" "" "0" "" "" "white" ""
"00075286" "" "" "" "1" "" "01695" "{PMID:Yatsenko 2001:11379881}" "2-generation family, 1 affected" "F" "?" "United States" "" "0" "" "" "white" ""
"00075287" "" "" "" "1" "" "01695" "{PMID:Yatsenko 2001:11379881}" "2-generation family, 3 affected" "F" "?" "United States" "" "0" "" "" "white" ""
"00075288" "" "" "" "1" "" "01695" "{PMID:Yatsenko 2001:11379881}" "2-generation family, 3 affected" "M" "?" "United States" "" "0" "" "" "white" ""
"00075289" "" "" "" "1" "" "01695" "{PMID:Yatsenko 2001:11379881}" "2-generation family, 3 affected" "F" "?" "United States" "" "0" "" "" "white" ""
"00075290" "" "" "" "1" "" "01695" "{PMID:Yatsenko 2001:11379881}" "2-generation family, 1 affected" "M" "?" "United States" "" "0" "" "" "African American" ""
"00075291" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075292" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075293" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075294" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075295" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075296" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075297" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075298" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075299" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075300" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075301" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075302" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075303" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075304" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075305" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075306" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075307" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075308" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075309" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075310" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075311" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075312" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075313" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075314" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075315" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075316" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075317" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075318" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075319" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075320" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075321" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075322" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075323" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075324" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075325" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075326" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075327" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075328" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075329" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075330" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075331" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075332" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075333" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075334" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075335" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075336" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075337" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075338" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075339" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075340" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075341" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075342" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075343" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075344" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075345" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075346" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075347" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075348" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075349" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were annotated saperately. However, as these mutations are often found together, they are assumed to lie on the some chromosome. Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075350" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were annotated saperately. However, as these mutations are often found together, they are assumed to lie on the some chromosome. Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075351" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were annotated saperately. However, as these mutations are often found together, they are assumed to lie on the some chromosome. Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075352" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were annotated saperately. However, as these mutations are often found together, they are assumed to lie on the some chromosome. Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075353" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were annotated saperately. However, as these mutations are often found together, they are assumed to lie on the some chromosome. Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075354" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were annotated saperately. However, as these mutations are often found together, they are assumed to lie on the some chromosome. Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075355" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were annotated saperately. However, as these mutations are often found together, they are assumed to lie on the some chromosome. Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075356" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were annotated saperately. However, as these mutations are often found together, they are assumed to lie on the some chromosome. Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075357" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were annotated saperately. However, as these mutations are often found together, they are assumed to lie on the some chromosome. Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075358" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were annotated saperately. However, as these mutations are often found together, they are assumed to lie on the some chromosome. Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075359" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were annotated saperately. However, as these mutations are often found together, they are assumed to lie on the some chromosome. Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075360" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075361" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075362" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075363" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075364" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075365" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075366" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075367" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "" "?" "?" "United States" "" "0" "" "" "" ""
"00075368" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075369" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075370" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075371" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075372" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075373" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. On its own not significantely found more often in published STGD compared to ExAC (p-value 0.12). However, together with other non-significant variants published related to STGD, they are significantly more often in STGD patients." "?" "?" "United States" "" "0" "" "" "" ""
"00075374" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075375" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075376" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075377" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075378" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075379" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075380" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075381" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075382" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075383" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075384" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075385" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075386" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075387" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075388" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075389" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075390" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075391" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075392" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075393" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075394" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075395" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075396" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075397" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075398" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075399" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075400" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075401" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075402" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075403" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075404" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075405" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075406" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075407" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075408" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075409" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075410" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075411" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075412" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075413" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075414" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075415" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075416" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075417" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075418" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075419" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075420" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075421" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075422" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075423" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075424" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075425" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075426" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075427" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075428" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075429" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075430" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075431" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075432" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075433" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075434" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075435" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075436" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075437" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075438" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075439" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075440" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075441" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075442" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075443" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075444" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075445" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075446" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075447" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075448" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075449" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075450" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075451" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075452" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075453" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075454" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075455" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075456" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075457" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075458" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075459" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075460" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075461" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075462" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075463" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075464" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075465" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075466" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075467" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075468" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075469" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075470" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075471" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075472" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075473" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075474" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075475" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075476" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075477" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075478" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075479" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075480" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075481" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075482" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075483" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075484" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075485" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075486" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075487" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075488" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. On its own not significantely found more often in published STGD compared to ExAC (p-value 0.71). However, together with other non-significant variants published related to STGD, they are significantly more often in STGD patients." "?" "?" "United States" "" "0" "" "" "" ""
"00075489" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075490" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075491" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075492" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. On its own not significantely found more often in published STGD compared to ExAC (p-value 0.86). However, together with other non-significant variants published related to STGD, they are significantly more often in STGD patients." "?" "?" "United States" "" "0" "" "" "" ""
"00075493" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075494" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075495" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075496" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075497" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075498" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075499" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075500" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075501" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075502" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075503" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075504" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075505" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075506" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075507" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075508" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075509" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075510" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075511" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075512" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075513" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075514" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075515" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075516" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075517" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075518" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075519" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075520" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075521" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075522" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075523" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075524" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075525" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075526" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075527" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075528" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075529" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075530" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075531" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075532" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075533" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075534" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075535" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075536" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075537" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075538" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075539" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075540" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075541" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075542" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075543" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075544" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075545" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075546" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075547" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075548" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075549" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075550" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075551" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075552" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075553" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075554" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075555" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075556" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075557" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075558" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075559" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075560" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075561" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075562" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075563" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075564" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075565" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075566" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075567" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075568" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075569" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075570" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075571" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075572" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075573" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075574" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075575" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075576" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075577" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075578" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075579" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075580" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075581" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075582" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075583" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075584" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075585" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075586" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075587" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075588" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075589" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075590" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075591" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075592" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075593" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. On its own not significantely found more often in published STGD compared to ExAC (p-value 0.79). However, together with other non-significant variants published related to STGD, they are significantly more often in STGD patients." "?" "?" "United States" "" "0" "" "" "" ""
"00075594" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075595" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075596" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075597" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075598" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075599" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075600" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075601" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075602" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075603" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075604" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075605" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075606" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075607" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075608" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075609" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075610" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075611" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075612" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075613" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075614" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075615" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075616" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075617" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075618" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075619" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075620" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075621" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075622" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075623" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075624" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075625" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075626" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075627" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075628" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075629" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075630" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075631" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075632" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075633" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075634" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075635" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075636" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075637" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075638" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075639" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075640" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075641" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075642" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075643" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075644" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075645" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075646" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075647" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075648" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075649" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075650" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075651" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075652" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075653" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075654" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075655" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075656" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075657" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075658" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075659" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075660" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075661" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075662" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075663" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075664" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075665" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075666" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075667" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075668" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075669" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075670" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075671" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075672" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075673" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075674" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075675" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075676" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075677" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075678" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075679" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075680" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075681" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075682" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075683" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075684" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075685" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075686" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075687" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075688" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075689" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075690" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075691" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075692" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075693" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075694" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075695" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075696" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075697" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075698" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075699" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075700" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075701" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. On its own not significantely found more often in published STGD compared to ExAC (p-value 0.56). However, together with other non-significant variants published related to STGD, they are significantly more often in STGD patients." "?" "?" "United States" "" "0" "" "" "" ""
"00075702" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075703" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075704" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075705" "" "" "" "1" "" "01695" "{PMID:Webster 2001:11328725}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "United States" "" "0" "" "" "" ""
"00075706" "" "" "" "1" "" "01695" "{PMID:Shroyer 2001:11687513}" "3-generation family, 3 affected" "F" "?" "United States" "" "0" "" "" "white" ""
"00075707" "" "" "" "1" "" "01695" "{PMID:Shroyer 2001:11687513}" "3-generation family, 3 affected" "F" "?" "United States" "" "0" "" "" "white" ""
"00075708" "" "" "" "1" "" "01695" "{PMID:Shroyer 2001:11687513}" "3-generation family, 3 affected" "F" "?" "United States" "" "0" "" "" "white" ""
"00075709" "" "" "" "1" "" "01695" "{PMID:Fumagalli 2001:11702214}" "" "" "" "Italy" "" "0" "" "" "" ""
"00075710" "" "" "" "1" "" "01695" "{PMID:Fumagalli 2001:11702214}" "" "" "" "Italy" "" "0" "" "" "" ""
"00075711" "" "" "" "1" "" "01695" "{PMID:Fumagalli 2001:11702214}" "" "" "" "Italy" "" "0" "" "" "" ""
"00075712" "" "" "" "1" "" "01695" "{PMID:Fumagalli 2001:11702214}" "" "" "" "Italy" "" "0" "" "" "" ""
"00075713" "" "" "" "1" "" "01695" "{PMID:Fumagalli 2001:11702214}" "" "" "" "Italy" "" "0" "" "" "" ""
"00075714" "" "" "" "1" "" "01695" "{PMID:Fumagalli 2001:11702214}" "" "" "" "Italy" "" "0" "" "" "" ""
"00075715" "" "" "" "1" "" "01695" "{PMID:Fumagalli 2001:11702214}" "" "" "" "Italy" "" "0" "" "" "" ""
"00075716" "" "" "" "1" "" "01695" "{PMID:Fumagalli 2001:11702214}" "" "" "" "Italy" "" "0" "" "" "" ""
"00075717" "" "" "" "1" "" "01695" "{PMID:Fumagalli 2001:11702214}" "" "" "" "Italy" "" "0" "" "" "" ""
"00075718" "" "" "" "1" "" "01695" "{PMID:Fumagalli 2001:11702214}" "" "" "" "Italy" "" "0" "" "" "" ""
"00075719" "" "" "" "1" "" "01695" "{PMID:Fumagalli 2001:11702214}" "" "" "" "Italy" "" "0" "" "" "" ""
"00075720" "" "" "" "1" "" "01695" "{PMID:Fumagalli 2001:11702214}" "" "" "" "Italy" "" "0" "" "" "" ""
"00075721" "" "" "" "1" "" "01695" "{PMID:Fumagalli 2001:11702214}" "" "" "" "Italy" "" "0" "" "" "" ""
"00075722" "" "" "" "1" "" "01695" "{PMID:Fumagalli 2001:11702214}" "" "" "" "Italy" "" "0" "" "" "" ""
"00075723" "" "" "" "1" "" "01695" "{PMID:Fumagalli 2001:11702214}" "" "" "" "Italy" "" "0" "" "" "" ""
"00075724" "" "" "" "1" "" "01695" "{PMID:Fumagalli 2001:11702214}" "" "" "" "Italy" "" "0" "" "" "" ""
"00075725" "" "" "" "1" "" "01695" "{PMID:Fumagalli 2001:11702214}" "" "" "" "Italy" "" "0" "" "" "" ""
"00075726" "" "" "" "1" "" "01695" "{PMID:Fumagalli 2001:11702214}" "" "" "" "Italy" "" "0" "" "" "" ""
"00075727" "" "" "" "1" "" "01695" "{PMID:Fumagalli 2001:11702214}" "2-generation family, 2 affected" "" "" "Italy" "" "0" "" "" "" ""
"00075728" "" "" "" "1" "" "01695" "{PMID:Fumagalli 2001:11702214}" "2-generation family, 2 affected" "" "" "Italy" "" "0" "" "" "" ""
"00075729" "" "" "" "1" "" "01695" "{PMID:Fumagalli 2001:11702214}" "" "" "" "Italy" "" "0" "" "" "" ""
"00075730" "" "" "" "1" "" "01695" "{PMID:Fumagalli 2001:11702214}" "" "" "" "Italy" "" "0" "" "" "" ""
"00075731" "" "" "" "1" "" "01695" "{PMID:Fumagalli 2001:11702214}" "" "" "" "Italy" "" "0" "" "" "" ""
"00075732" "" "" "" "1" "" "01695" "{PMID:Fumagalli 2001:11702214}" "2-generation family, 2 affected" "" "" "Italy" "" "0" "" "" "" ""
"00075733" "" "" "" "1" "" "01695" "{PMID:Fumagalli 2001:11702214}" "2-generation family, 2 affected" "M" "" "Italy" "" "0" "" "" "" ""
"00075734" "" "" "" "1" "" "01695" "{PMID:Fumagalli 2001:11702214}" "" "" "" "Italy" "" "0" "" "" "" ""
"00075735" "" "" "" "1" "" "01695" "{PMID:Fumagalli 2001:11702214}" "" "" "" "Italy" "" "0" "" "" "" ""
"00075736" "" "" "" "1" "" "01695" "{PMID:Fumagalli 2001:11702214}" "" "" "" "Italy" "" "0" "" "" "" ""
"00075737" "" "" "" "1" "" "01695" "{PMID:Fumagalli 2001:11702214}" "" "" "" "Italy" "" "0" "" "" "" ""
"00075738" "" "" "" "1" "" "01695" "{PMID:Fumagalli 2001:11702214}" "" "F" "" "Italy" "" "0" "" "" "" ""
"00075739" "" "" "" "1" "" "01695" "{PMID:Fumagalli 2001:11702214}" "" "M" "" "Italy" "" "0" "" "" "" ""
"00075740" "" "" "" "1" "" "01695" "{PMID:Fumagalli 2001:11702214}" "" "M" "" "Italy" "" "0" "" "" "" ""
"00075741" "" "" "" "1" "" "01695" "{PMID:Fumagalli 2001:11702214}" "" "M" "" "Italy" "" "0" "" "" "" ""
"00075742" "" "" "" "1" "" "01695" "{PMID:Fumagalli 2001:11702214}" "" "" "" "Italy" "" "0" "" "" "" ""
"00075743" "" "" "" "1" "" "01695" "{PMID:Fumagalli 2001:11702214}" "" "" "" "Italy" "" "0" "" "" "" ""
"00075744" "" "" "" "1" "" "01695" "{PMID:Fumagalli 2001:11702214}" "" "" "" "Italy" "" "0" "" "" "" ""
"00075745" "" "" "" "1" "" "01695" "{PMID:Fumagalli 2001:11702214}" "" "" "" "Italy" "" "0" "" "" "" ""
"00075746" "" "" "" "1" "" "01695" "{PMID:Fumagalli 2001:11702214}" "" "" "" "Italy" "" "0" "" "" "" ""
"00075747" "" "" "" "1" "" "01695" "{PMID:Fumagalli 2001:11702214}" "" "" "" "Italy" "" "0" "" "" "" ""
"00075748" "" "" "" "1" "" "01695" "{PMID:Fumagalli 2001:11702214}" "" "M" "" "Italy" "" "0" "" "" "" ""
"00075749" "" "" "" "1" "" "01695" "{PMID:Fumagalli 2001:11702214}" "" "" "" "Italy" "" "0" "" "" "" ""
"00075750" "" "" "" "1" "" "01695" "{PMID:Birch 2001:11846518}" "" "?" "?" "" "" "0" "" "" "?" ""
"00075751" "" "" "" "1" "" "01695" "{PMID:Birch 2001:11846518}" "7-generation family, 2 affected" "F" "yes" "" "" "0" "" "" "?" ""
"00075752" "" "" "" "1" "" "01695" "{PMID:Birch 2001:11846518}" "7-generation family, 2 affected" "M" "yes" "" "" "0" "" "" "?" ""
"00075753" "" "" "" "1" "" "01695" "{PMID:Birch 2001:11846518}" "" "F" "?" "" "" "0" "" "" "?" ""
"00075754" "" "" "" "1" "" "01695" "{PMID:Birch 2001:11846518}" "" "?" "?" "" "" "0" "" "" "?" ""
"00075755" "" "" "" "1" "" "01695" "{PMID:Birch 2001:11846518}" "" "?" "?" "" "" "0" "" "" "?" ""
"00075756" "" "" "" "1" "" "01695" "{PMID:Birch 2001:11846518}" "" "?" "?" "" "" "0" "" "" "?" ""
"00075757" "" "" "" "1" "" "01695" "{PMID:Birch 2001:11846518}" "" "?" "?" "" "" "0" "" "" "?" ""
"00075758" "" "" "" "1" "" "01695" "{PMID:Birch 2001:11846518}" "" "?" "?" "" "" "0" "" "" "?" ""
"00075759" "" "" "" "1" "" "01695" "{PMID:Birch 2001:11846518}" "" "?" "?" "" "" "0" "" "" "?" ""
"00075760" "" "" "" "1" "" "01695" "{PMID:Birch 2001:11846518}" "" "?" "?" "" "" "0" "" "" "?" ""
"00075761" "" "" "" "1" "" "01695" "{PMID:Birch 2001:11846518}" "" "?" "?" "" "" "0" "" "" "?" ""
"00075762" "" "" "" "1" "" "01695" "{PMID:Birch 2001:11846518}" "" "?" "?" "" "" "0" "" "" "?" ""
"00075763" "" "" "" "1" "" "01695" "{PMID:Lewis 1999:9973280}" "2-generation family, 6 affected" "F" "?" "" "" "0" "" "" "?" ""
"00075764" "" "" "" "1" "" "01695" "{PMID:Lewis 1999:9973280}" "2-generation family, 6 affected" "F" "?" "" "" "0" "" "" "?" ""
"00075765" "" "" "" "1" "" "01695" "{PMID:Lewis 1999:9973280}" "2-generation family, 2 affected" "F" "?" "" "" "0" "" "" "?" ""
"00075766" "" "" "" "1" "" "01695" "{PMID:Lewis 1999:9973280}" "2-generation family, 2 affected" "F" "?" "" "" "0" "" "" "?" ""
"00075767" "" "" "" "1" "" "01695" "{PMID:Lewis 1999:9973280}" "3-generation family, 2 affected" "M" "?" "" "" "0" "" "" "?" ""
"00075768" "" "" "" "1" "" "01695" "{PMID:Lewis 1999:9973280}" "3-generation family, 2 affected" "F" "?" "" "" "0" "" "" "?" ""
"00075769" "" "" "" "1" "" "01695" "{PMID:Lewis 1999:9973280}" "3-generation family, 2 affected" "M" "?" "" "" "0" "" "" "?" ""
"00075770" "" "" "" "1" "" "01695" "{PMID:Lewis 1999:9973280}" "3-generation family, 2 affected" "F" "?" "" "" "0" "" "" "?" ""
"00075771" "" "" "" "1" "" "01695" "{PMID:Shroyer 2001:11726554}, {PMID:Lewis 1999:9973280}" "2-generation family, 3 affected" "F" "?" "" "" "0" "" "" "?" ""
"00075772" "" "" "" "1" "" "01695" "{PMID:Lewis 1999:9973280}" "2-generation family, 3 affected" "M" "?" "" "" "0" "" "" "?" ""
"00075773" "" "" "" "1" "" "01695" "{PMID:Lewis 1999:9973280}" "2-generation family, 3 affected" "M" "?" "" "" "0" "" "" "?" ""
"00075774" "" "" "" "1" "" "01695" "{PMID:Lewis 1999:9973280}" "4-generation family, 1 affected" "F" "?" "" "" "0" "" "" "?" ""
"00075775" "" "" "" "1" "" "01695" "{PMID:Lewis 1999:9973280}" "3-generation family, 2 affected" "M" "?" "" "" "0" "" "" "?" ""
"00075776" "" "" "" "1" "" "01695" "{PMID:Lewis 1999:9973280}" "3-generation family, 2 affected" "F" "?" "" "" "0" "" "" "?" ""
"00075777" "" "" "" "1" "" "01695" "{PMID:Lewis 1999:9973280}" "3-generation family, 1 affected" "F" "?" "" "" "0" "" "" "?" ""
"00075778" "" "" "" "1" "" "01695" "{PMID:Lewis 1999:9973280}" "3-generation family, 2 affected" "F" "?" "" "" "0" "" "" "?" ""
"00075779" "" "" "" "1" "" "01695" "{PMID:Lewis 1999:9973280}" "3-generation family, 2 affected" "F" "?" "" "" "0" "" "" "?" ""
"00075780" "" "" "" "1" "" "01695" "{PMID:Lewis 1999:9973280}" "2-generation family, 2 affected" "F" "?" "" "" "0" "" "" "?" ""
"00075781" "" "" "" "1" "" "01695" "{PMID:Lewis 1999:9973280}" "2-generation family, 2 affected" "F" "?" "" "" "0" "" "" "?" ""
"00075782" "" "" "" "1" "" "01695" "{PMID:Lewis 1999:9973280}" "3-generation family, 3 affected" "F" "?" "" "" "0" "" "" "?" ""
"00075783" "" "" "" "1" "" "01695" "{PMID:Lewis 1999:9973280}" "3-generation family, 3 affected" "F" "?" "" "" "0" "" "" "?" ""
"00075784" "" "" "" "1" "" "01695" "{PMID:Lewis 1999:9973280}" "3-generation family, 3 affected" "F" "?" "" "" "0" "" "" "?" ""
"00075785" "" "" "" "1" "" "01695" "{PMID:Lewis 1999:9973280}" "3-generation family, 1 affected" "M" "?" "" "" "0" "" "" "?" ""
"00075786" "" "" "" "1" "" "01695" "{PMID:Lewis 1999:9973280}" "3-generation family, 1 affected" "M" "?" "" "" "0" "" "" "?" ""
"00075787" "" "" "" "1" "" "01695" "{PMID:Lewis 1999:9973280}" "3-generation family, 1 affected" "F" "?" "" "" "0" "" "" "?" ""
"00075788" "" "" "" "1" "" "01695" "{PMID:Lewis 1999:9973280}" "3-generation family, 1 affected" "F" "?" "" "" "0" "" "" "?" ""
"00075789" "" "" "" "1" "" "01695" "{PMID:Lewis 1999:9973280}" "3-generation family, 1 affected" "F" "?" "" "" "0" "" "" "?" ""
"00075790" "" "" "" "1" "" "01695" "{PMID:Lewis 1999:9973280}" "" "" "?" "" "" "0" "" "" "?" ""
"00075791" "" "" "" "1" "" "01695" "{PMID:Lewis 1999:9973280}" "" "" "?" "" "" "0" "" "" "?" ""
"00075792" "" "" "" "1" "" "01695" "{PMID:Lewis 1999:9973280}" "" "" "?" "" "" "0" "" "" "?" ""
"00075793" "" "" "" "1" "" "01695" "{PMID:Klevering 2002:12037008}" "" "M" "?" "(Netherlands);(Germany)" "" "0" "" "" "?" ""
"00075794" "" "" "" "1" "" "01695" "{PMID:Klevering 2002:12037008}" "" "M" "?" "(Netherlands);(Germany)" "" "0" "" "" "?" ""
"00075795" "" "" "" "1" "" "01695" "{PMID:Klevering 2002:12037008}" "" "F" "?" "(Netherlands);(Germany)" "" "0" "" "" "?" ""
"00075796" "" "" "" "1" "" "01695" "{PMID:Klevering 2002:12037008}" "" "M" "?" "(Netherlands);(Germany)" "" "0" "" "" "?" ""
"00075797" "" "" "" "1" "" "01695" "{PMID:Klevering 2002:12037008}" "" "M" "?" "(Netherlands);(Germany)" "" "0" "" "" "?" ""
"00075798" "" "" "" "1" "" "01695" "{PMID:Klevering 2002:12037008}, {PMID:Sangermano 2019:30643219}" "" "F" "?" "(Germany);(Netherlands)" "" "0" "" "" "?" "?;FamBPatI2"
"00075799" "" "" "" "1" "" "01695" "{PMID:Klevering 2002:12037008}" "" "F" "?" "(Netherlands);(Germany)" "" "0" "" "" "?" ""
"00075800" "" "" "" "1" "" "01695" "{PMID:Klevering 2002:12037008}" "" "M" "?" "(Netherlands);(Germany)" "" "0" "" "" "?" ""
"00075801" "" "" "" "1" "" "01695" "{PMID:Klevering 2002:12037008}" "" "F" "?" "(Netherlands);(Germany)" "" "0" "" "" "?" ""
"00075802" "" "" "" "1" "" "01695" "{PMID:Klevering 2002:12037008}" "" "M" "?" "(Netherlands);(Germany)" "" "0" "" "" "?" ""
"00075803" "" "" "" "1" "" "01695" "{PMID:Klevering 2002:12037008}" "" "M" "?" "(Netherlands);(Germany)" "" "0" "" "" "?" ""
"00075804" "" "" "" "1" "" "01695" "{PMID:Klevering 2002:12037008}" "" "M" "?" "(Netherlands);(Germany)" "" "0" "" "" "?" ""
"00075805" "" "" "" "1" "" "01695" "{PMID:Gerth 2002:12192456}" "" "F" "?" "" "" "0" "" "" "?" ""
"00075806" "" "" "" "1" "" "01695" "{PMID:Gerth 2002:12192456}" "" "F" "?" "" "" "0" "" "" "?" ""
"00075807" "" "" "" "1" "" "01695" "{PMID:Gerth 2002:12192456}" "" "F" "?" "" "" "0" "" "" "?" ""
"00075808" "" "" "" "1" "" "01695" "{PMID:Fukui 2002:12202497}" "3-generation family, 3 affected" "M" "?" "Japan" "" "0" "" "" "?" ""
"00075809" "" "" "" "1" "" "01695" "{PMID:Fukui 2002:12202497}" "3-generation family, 3 affected" "F" "?" "Japan" "" "0" "" "" "?" ""
"00075810" "" "" "" "1" "" "01695" "{PMID:Fukui 2002:12202497}" "3-generation family, 3 affected" "F" "?" "Japan" "" "0" "" "" "?" ""
"00075811" "" "" "" "1" "" "01695" "{PMID:Fukui 2002:12202497}" "2-generation family, 1 affected" "M" "yes" "Japan" "" "0" "" "" "?" ""
"00075812" "" "" "" "1" "" "01695" "{PMID:Fukui 2002:12202497}" "2-generation family, 1 affected" "F" "yes" "Japan" "" "0" "" "" "?" ""
"00075813" "" "" "" "1" "" "01695" "{PMID:Fukui 2002:12202497}" "2-generation family, 2 affected" "F" "?" "Japan" "" "0" "" "" "?" ""
"00075814" "" "" "" "1" "" "01695" "{PMID:Fukui 2002:12202497}" "3-generation family, 3 affected" "F" "?" "Japan" "" "0" "" "" "?" ""
"00075815" "" "" "" "1" "" "01695" "{PMID:Fukui 2002:12202497}" "3-generation family, 3 affected" "M" "yes" "Japan" "" "0" "" "" "?" ""
"00075816" "" "" "" "1" "" "01695" "{PMID:Fukui 2002:12202497}" "3-generation family, 3 affected" "F" "yes" "Japan" "" "0" "" "" "?" ""
"00075817" "" "" "" "1" "" "01695" "{PMID:Paloma 2002:12442277}" "" "M" "?" "Spain" "" "0" "" "" "?" ""
"00075818" "" "" "" "1" "" "01695" "{PMID:Paloma 2002:12442277}" "" "F" "?" "Spain" "" "0" "" "" "?" ""
"00075819" "" "" "" "1" "" "01695" "{PMID:Paloma 2002:12442277}" "" "M" "?" "Spain" "" "0" "" "" "?" ""
"00075820" "" "" "" "1" "" "01695" "{PMID:Paloma 2002:12442277}" "" "F" "?" "Spain" "" "0" "" "" "?" ""
"00075821" "" "" "" "1" "" "01695" "{PMID:Paloma 2002:12442277}" "" "F" "?" "Spain" "" "0" "" "" "?" ""
"00075822" "" "" "" "1" "" "01695" "{PMID:Paloma 2002:12442277}" "" "M" "?" "Spain" "" "0" "" "" "?" ""
"00075823" "" "" "" "1" "" "01695" "{PMID:Paloma 2002:12442277}" "" "M" "?" "Spain" "" "0" "" "" "?" ""
"00075824" "" "" "" "1" "" "01695" "{PMID:Paloma 2002:12442277}" "" "M" "?" "Spain" "" "0" "" "" "?" ""
"00075825" "" "" "" "1" "" "01695" "{PMID:Paloma 2002:12442277}" "" "F" "?" "Spain" "" "0" "" "" "?" ""
"00075826" "" "" "" "1" "" "01695" "{PMID:Ducroq 2002:12515255}" "" "?" "?" "France" "" "0" "" "" "?" ""
"00075827" "" "" "" "1" "" "01695" "{PMID:Ducroq 2002:12515255}" "" "?" "?" "" "" "0" "" "" "Africa, north" ""
"00075828" "" "" "" "1" "" "01695" "{PMID:Ducroq 2002:12515255}" "" "?" "?" "" "" "0" "" "" "Africa, north" ""
"00075829" "" "" "" "1" "" "01695" "{PMID:Ducroq 2002:12515255}" "" "?" "?" "France" "" "0" "" "" "?" ""
"00075830" "" "" "" "1" "" "01695" "{PMID:Ducroq 2002:12515255}" "" "?" "?" "France" "" "0" "" "" "?" ""
"00075831" "" "" "" "1" "" "01695" "{PMID:Ducroq 2002:12515255}" "" "?" "?" "France" "" "0" "" "" "?" ""
"00075832" "" "" "" "1" "" "01695" "{PMID:Ducroq 2002:12515255}" "" "?" "?" "South Africa" "" "0" "" "" "?" ""
"00075833" "" "" "" "1" "" "01695" "{PMID:Ducroq 2002:12515255}" "" "?" "?" "France" "" "0" "" "" "?" ""
"00075834" "" "" "" "1" "" "01695" "{PMID:Ducroq 2002:12515255}" "" "?" "?" "" "" "0" "" "" "African" ""
"00075835" "" "" "" "1" "" "01695" "{PMID:Ducroq 2002:12515255}" "" "?" "?" "France" "" "0" "" "" "?" ""
"00075836" "" "" "" "1" "" "01695" "{PMID:Ducroq 2002:12515255}" "" "?" "yes" "Portugal" "" "0" "" "" "?" ""
"00075837" "" "" "" "1" "" "01695" "{PMID:Ducroq 2002:12515255}" "" "?" "yes" "Morocco" "" "0" "" "" "?" ""
"00075838" "" "" "" "1" "" "01695" "{PMID:Ducroq 2002:12515255}" "" "?" "?" "United Kingdom (Great Britain)" "" "0" "" "" "England" ""
"00075839" "" "" "" "1" "" "01695" "{PMID:Baum 2003:12592048}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "China" "" "0" "" "" "Chinese" ""
"00075840" "" "" "" "1" "" "01695" "{PMID:Baum 2003:12592048}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "China" "" "0" "" "" "Chinese" ""
"00075841" "" "" "" "1" "" "01695" "{PMID:Baum 2003:12592048}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "China" "" "0" "" "" "Chinese" ""
"00075842" "" "" "" "1" "" "01695" "{PMID:Baum 2003:12592048}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "China" "" "0" "" "" "Chinese" ""
"00075843" "" "" "" "1" "" "01695" "{PMID:Yatsenko 2003:12754711}" "2-generation family, 2 affected" "?" "?" "" "" "0" "" "" "" ""
"00075844" "" "" "" "1" "" "01695" "{PMID:Fishman 2003:12796258}" "" "F" "?" "" "" "0" "" "" "African American" ""
"00075845" "" "" "" "1" "" "01695" "{PMID:Fishman 2003:12796258}" "" "F" "?" "" "" "0" "" "" "white" ""
"00075846" "" "" "" "1" "" "01695" "{PMID:Fishman 2003:12796258}" "" "F" "?" "" "" "0" "" "" "Hispanic" ""
"00075847" "" "" "" "1" "" "01695" "{PMID:Fishman 2003:12796258}" "" "F" "?" "" "" "0" "" "" "white" ""
"00075848" "" "" "" "1" "" "01695" "{PMID:Fishman 2003:12796258}" "" "F" "?" "" "" "0" "" "" "white" ""
"00075849" "" "" "" "1" "" "01695" "{PMID:Fishman 2003:12796258}" "" "F" "?" "" "" "0" "" "" "white" ""
"00075850" "" "" "" "1" "" "01695" "{PMID:Fishman 2003:12796258}" "" "F" "?" "" "" "0" "" "" "white" ""
"00075851" "" "" "" "1" "" "01695" "{PMID:Fishman 2003:12796258}" "" "M" "?" "" "" "0" "" "" "white" ""
"00075852" "" "" "" "1" "" "01695" "{PMID:Fishman 2003:12796258}" "" "M" "?" "" "" "0" "" "" "white" ""
"00075853" "" "" "" "1" "" "01695" "{PMID:Fishman 2003:12796258}" "" "F" "?" "" "" "0" "" "" "African American" ""
"00075854" "" "" "" "1" "" "01695" "{PMID:Fishman 2003:12796258}" "" "F" "?" "" "" "0" "" "" "white" ""
"00075855" "" "" "" "1" "" "01695" "{PMID:Fishman 2003:12796258}" "" "M" "?" "" "" "0" "" "" "white" ""
"00075856" "" "" "" "1" "" "01695" "{PMID:Fishman 2003:12796258}" "" "M" "?" "" "" "0" "" "" "African American" ""
"00075857" "" "" "" "1" "" "01695" "{PMID:Fishman 2003:12796258}" "" "M" "?" "" "" "0" "" "" "Palestinian" ""
"00075858" "" "" "" "1" "" "01695" "{PMID:Fishman 2003:12796258}" "" "M" "?" "" "" "0" "" "" "African American" ""
"00075859" "" "" "" "1" "" "01695" "{PMID:Fishman 2003:12796258}" "" "M" "?" "" "" "0" "" "" "African American" ""
"00075860" "" "" "" "1" "" "01695" "{PMID:Jaakson 2003:14517951}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome, possibly even in a previous study also present in the LOVD." "?" "?" "" "" "0" "" "" "USA, Netherlands, Italy or Slovenia" ""
"00075861" "" "" "" "1" "" "01695" "{PMID:Jaakson 2003:14517951}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome, possibly even in a previous study also present in the LOVD." "?" "?" "" "" "0" "" "" "USA, Netherlands, Italy or Slovenia" ""
"00075862" "" "" "" "1" "" "01695" "{PMID:Jaakson 2003:14517951}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome, possibly even in a previous study also present in the LOVD." "?" "?" "" "" "0" "" "" "USA, Netherlands, Italy or Slovenia" ""
"00075863" "" "" "" "1" "" "01695" "{PMID:Jaakson 2003:14517951}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome, possibly even in a previous study also present in the LOVD." "?" "?" "" "" "0" "" "" "USA, Netherlands, Italy or Slovenia" ""
"00075864" "" "" "" "1" "" "01695" "{PMID:Jaakson 2003:14517951}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome, possibly even in a previous study also present in the LOVD." "?" "?" "" "" "0" "" "" "USA, Netherlands, Italy or Slovenia" ""
"00075865" "" "" "" "1" "" "01695" "{PMID:Jaakson 2003:14517951}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome, possibly even in a previous study also present in the LOVD." "?" "?" "" "" "0" "" "" "USA, Netherlands, Italy or Slovenia" ""
"00075866" "" "" "" "1" "" "01695" "{PMID:Jaakson 2003:14517951}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome, possibly even in a previous study also present in the LOVD. On its own not significantely found more often in published STGD compared to ExAC (p-value 0.55). However, together with other non-significant variants published related to STGD, they are significantly more often in STGD patients (p-value <0.01)." "?" "?" "" "" "0" "" "" "USA, Netherlands, Italy or Slovenia" ""
"00075867" "" "" "" "1" "" "01695" "{PMID:Jaakson 2003:14517951}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome, possibly even in a previous study also present in the LOVD." "?" "?" "" "" "0" "" "" "USA, Netherlands, Italy or Slovenia" ""
"00075868" "" "" "" "1" "" "01695" "{PMID:Jaakson 2003:14517951}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome, possibly even in a previous study also present in the LOVD." "?" "?" "" "" "0" "" "" "USA, Netherlands, Italy or Slovenia" ""
"00075869" "" "" "" "1" "" "01695" "{PMID:Jaakson 2003:14517951}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome, possibly even in a previous study also present in the LOVD." "?" "?" "" "" "0" "" "" "USA, Netherlands, Italy or Slovenia" ""
"00075870" "" "" "" "1" "" "01695" "{PMID:Jaakson 2003:14517951}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome, possibly even in a previous study also present in the LOVD." "?" "?" "" "" "0" "" "" "USA, Netherlands, Italy or Slovenia" ""
"00075871" "" "" "" "1" "" "01695" "{PMID:Jaakson 2003:14517951}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome, possibly even in a previous study also present in the LOVD." "?" "?" "" "" "0" "" "" "USA, Netherlands, Italy or Slovenia" ""
"00075872" "" "" "" "1" "" "01695" "{PMID:Jaakson 2003:14517951}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome, possibly even in a previous study also present in the LOVD." "?" "?" "" "" "0" "" "" "USA, Netherlands, Italy or Slovenia" ""
"00075873" "" "" "" "1" "" "01695" "{PMID:Jaakson 2003:14517951}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome, possibly even in a previous study also present in the LOVD." "?" "?" "" "" "0" "" "" "USA, Netherlands, Italy or Slovenia" ""
"00075874" "" "" "" "1" "" "01695" "{PMID:Jaakson 2003:14517951}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome, possibly even in a previous study also present in the LOVD." "?" "?" "" "" "0" "" "" "USA, Netherlands, Italy or Slovenia" ""
"00075875" "" "" "" "1" "" "01695" "{PMID:Jaakson 2003:14517951}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome, possibly even in a previous study also present in the LOVD." "?" "?" "" "" "0" "" "" "USA, Netherlands, Italy or Slovenia" ""
"00075876" "" "" "" "1" "" "01695" "{PMID:Jaakson 2003:14517951}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome, possibly even in a previous study also present in the LOVD." "?" "?" "" "" "0" "" "" "USA, Netherlands, Italy or Slovenia" ""
"00075877" "" "" "" "1" "" "01695" "{PMID:Jaakson 2003:14517951}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome, possibly even in a previous study also present in the LOVD." "?" "?" "" "" "0" "" "" "USA, Netherlands, Italy or Slovenia" ""
"00075878" "" "" "" "1" "" "01695" "{PMID:Jaakson 2003:14517951}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome, possibly even in a previous study also present in the LOVD." "?" "?" "" "" "0" "" "" "USA, Netherlands, Italy or Slovenia" ""
"00075879" "" "" "" "1" "" "01695" "{PMID:Jaakson 2003:14517951}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome, possibly even in a previous study also present in the LOVD." "?" "?" "" "" "0" "" "" "USA, Netherlands, Italy or Slovenia" ""
"00075880" "" "" "" "1" "" "01695" "{PMID:Jaakson 2003:14517951}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome, possibly even in a previous study also present in the LOVD." "?" "?" "" "" "0" "" "" "USA, Netherlands, Italy or Slovenia" ""
"00075881" "" "" "" "1" "" "01695" "{PMID:Jaakson 2003:14517951}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome, possibly even in a previous study also present in the LOVD." "?" "?" "" "" "0" "" "" "USA, Netherlands, Italy or Slovenia" ""
"00075882" "" "" "" "1" "" "01695" "{PMID:Jaakson 2003:14517951}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome, possibly even in a previous study also present in the LOVD." "?" "?" "" "" "0" "" "" "USA, Netherlands, Italy or Slovenia" ""
"00075883" "" "" "" "1" "" "01695" "{PMID:Jaakson 2003:14517951}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome, possibly even in a previous study also present in the LOVD." "?" "?" "" "" "0" "" "" "USA, Netherlands, Italy or Slovenia" ""
"00075884" "" "" "" "1" "" "01695" "{PMID:Jaakson 2003:14517951}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome, possibly even in a previous study also present in the LOVD." "?" "?" "" "" "0" "" "" "USA, Netherlands, Italy or Slovenia" ""
"00075885" "" "" "" "1" "" "01695" "{PMID:Jaakson 2003:14517951}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome, possibly even in a previous study also present in the LOVD." "?" "?" "" "" "0" "" "" "USA, Netherlands, Italy or Slovenia" ""
"00075886" "" "" "" "1" "" "01695" "{PMID:Jaakson 2003:14517951}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome, possibly even in a previous study also present in the LOVD." "?" "?" "" "" "0" "" "" "USA, Netherlands, Italy or Slovenia" ""
"00075887" "" "" "" "1" "" "01695" "{PMID:Jaakson 2003:14517951}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome, possibly even in a previous study also present in the LOVD." "?" "?" "" "" "0" "" "" "USA, Netherlands, Italy or Slovenia" ""
"00075888" "" "" "" "1" "" "01695" "{PMID:Jaakson 2003:14517951}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome, possibly even in a previous study also present in the LOVD." "?" "?" "" "" "0" "" "" "USA, Netherlands, Italy or Slovenia" ""
"00075889" "" "" "" "1" "" "01695" "{PMID:Jaakson 2003:14517951}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome, possibly even in a previous study also present in the LOVD." "?" "?" "" "" "0" "" "" "USA, Netherlands, Italy or Slovenia" ""
"00075890" "" "" "" "1" "" "01695" "{PMID:Jaakson 2003:14517951}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome, possibly even in a previous study also present in the LOVD." "?" "?" "" "" "0" "" "" "USA, Netherlands, Italy or Slovenia" ""
"00075891" "" "" "" "1" "" "01695" "{PMID:Jaakson 2003:14517951}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome, possibly even in a previous study also present in the LOVD." "?" "?" "" "" "0" "" "" "USA, Netherlands, Italy or Slovenia" ""
"00075892" "" "" "" "1" "" "01695" "{PMID:Jaakson 2003:14517951}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome, possibly even in a previous study also present in the LOVD." "?" "?" "" "" "0" "" "" "USA, Netherlands, Italy or Slovenia" ""
"00075893" "" "" "" "1" "" "01695" "{PMID:Jaakson 2003:14517951}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome, possibly even in a previous study also present in the LOVD." "?" "?" "" "" "0" "" "" "USA, Netherlands, Italy or Slovenia" ""
"00075894" "" "" "" "1" "" "01695" "{PMID:Jaakson 2003:14517951}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome, possibly even in a previous study also present in the LOVD." "?" "?" "" "" "0" "" "" "USA, Netherlands, Italy or Slovenia" ""
"00075895" "" "" "" "1" "" "01695" "{PMID:Jaakson 2003:14517951}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome, possibly even in a previous study also present in the LOVD." "?" "?" "" "" "0" "" "" "USA, Netherlands, Italy or Slovenia" ""
"00075896" "" "" "" "1" "" "01695" "{PMID:Jaakson 2003:14517951}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome, possibly even in a previous study also present in the LOVD." "?" "?" "" "" "0" "" "" "USA, Netherlands, Italy or Slovenia" ""
"00075897" "" "" "" "1" "" "01695" "{PMID:Jaakson 2003:14517951}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome, possibly even in a previous study also present in the LOVD." "?" "?" "" "" "0" "" "" "USA, Netherlands, Italy or Slovenia" ""
"00075898" "" "" "" "1" "" "01695" "{PMID:Jaakson 2003:14517951}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome, possibly even in a previous study also present in the LOVD." "?" "?" "" "" "0" "" "" "USA, Netherlands, Italy or Slovenia" ""
"00075899" "" "" "" "1" "" "01695" "{PMID:Jaakson 2003:14517951}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome, possibly even in a previous study also present in the LOVD." "?" "?" "" "" "0" "" "" "USA, Netherlands, Italy or Slovenia" ""
"00075900" "" "" "" "1" "" "01695" "{PMID:Jaakson 2003:14517951}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome, possibly even in a previous study also present in the LOVD." "?" "?" "" "" "0" "" "" "USA, Netherlands, Italy or Slovenia" ""
"00075901" "" "" "" "1" "" "01695" "{PMID:Jaakson 2003:14517951}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome, possibly even in a previous study also present in the LOVD." "?" "?" "" "" "0" "" "" "USA, Netherlands, Italy or Slovenia" ""
"00075902" "" "" "" "1" "" "01695" "{PMID:Jaakson 2003:14517951}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome, possibly even in a previous study also present in the LOVD." "?" "?" "" "" "0" "" "" "USA, Netherlands, Italy or Slovenia" ""
"00075903" "" "" "" "1" "" "01695" "{PMID:Jaakson 2003:14517951}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome, possibly even in a previous study also present in the LOVD." "?" "?" "" "" "0" "" "" "USA, Netherlands, Italy or Slovenia" ""
"00075904" "" "" "" "1" "" "01695" "{PMID:Jaakson 2003:14517951}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome, possibly even in a previous study also present in the LOVD." "?" "?" "" "" "0" "" "" "USA, Netherlands, Italy or Slovenia" ""
"00075905" "" "" "" "1" "" "01695" "{PMID:Jaakson 2003:14517951}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome, possibly even in a previous study also present in the LOVD." "?" "?" "" "" "0" "" "" "USA, Netherlands, Italy or Slovenia" ""
"00075906" "" "" "" "1" "" "01695" "{PMID:Jaakson 2003:14517951}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome, possibly even in a previous study also present in the LOVD." "?" "?" "" "" "0" "" "" "USA, Netherlands, Italy or Slovenia" ""
"00075907" "" "" "" "1" "" "01695" "{PMID:Jaakson 2003:14517951}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome, possibly even in a previous study also present in the LOVD." "?" "?" "" "" "0" "" "" "USA, Netherlands, Italy or Slovenia" ""
"00075908" "" "" "" "1" "" "01695" "{PMID:Jaakson 2003:14517951}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome, possibly even in a previous study also present in the LOVD." "?" "?" "" "" "0" "" "" "USA, Netherlands, Italy or Slovenia" ""
"00075909" "" "" "" "1" "" "01695" "{PMID:Jaakson 2003:14517951}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome, possibly even in a previous study also present in the LOVD." "?" "?" "" "" "0" "" "" "USA, Netherlands, Italy or Slovenia" ""
"00075910" "" "" "" "1" "" "01695" "{PMID:Jaakson 2003:14517951}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome, possibly even in a previous study also present in the LOVD." "?" "?" "" "" "0" "" "" "USA, Netherlands, Italy or Slovenia" ""
"00075911" "" "" "" "1" "" "01695" "{PMID:Jaakson 2003:14517951}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome, possibly even in a previous study also present in the LOVD." "?" "?" "" "" "0" "" "" "USA, Netherlands, Italy or Slovenia" ""
"00075912" "" "" "" "1" "" "01695" "{PMID:Jaakson 2003:14517951}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome, possibly even in a previous study also present in the LOVD." "?" "?" "" "" "0" "" "" "USA, Netherlands, Italy or Slovenia" ""
"00075913" "" "" "" "1" "" "01695" "{PMID:Jaakson 2003:14517951}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome, possibly even in a previous study also present in the LOVD." "?" "?" "" "" "0" "" "" "USA, Netherlands, Italy or Slovenia" ""
"00075914" "" "" "" "1" "" "01695" "{PMID:Jaakson 2003:14517951}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome, possibly even in a previous study also present in the LOVD." "?" "?" "" "" "0" "" "" "USA, Netherlands, Italy or Slovenia" ""
"00075915" "" "" "" "1" "" "01695" "{PMID:Jaakson 2003:14517951}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome, possibly even in a previous study also present in the LOVD." "?" "?" "" "" "0" "" "" "USA, Netherlands, Italy or Slovenia" ""
"00075916" "" "" "" "1" "" "01695" "{PMID:Jaakson 2003:14517951}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome, possibly even in a previous study also present in the LOVD." "?" "?" "" "" "0" "" "" "USA, Netherlands, Italy or Slovenia" ""
"00075917" "" "" "" "1" "" "01695" "{PMID:Jaakson 2003:14517951}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome, possibly even in a previous study also present in the LOVD." "?" "?" "" "" "0" "" "" "USA, Netherlands, Italy or Slovenia" ""
"00075918" "" "" "" "1" "" "01695" "{PMID:Jaakson 2003:14517951}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome, possibly even in a previous study also present in the LOVD." "?" "?" "" "" "0" "" "" "USA, Netherlands, Italy or Slovenia" ""
"00075919" "" "" "" "1" "" "01695" "{PMID:Jaakson 2003:14517951}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome, possibly even in a previous study also present in the LOVD." "?" "?" "" "" "0" "" "" "USA, Netherlands, Italy or Slovenia" ""
"00075920" "" "" "" "1" "" "01695" "{PMID:Jaakson 2003:14517951}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome, possibly even in a previous study also present in the LOVD." "?" "?" "" "" "0" "" "" "USA, Netherlands, Italy or Slovenia" ""
"00075921" "" "" "" "1" "" "01695" "{PMID:Jaakson 2003:14517951}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome, possibly even in a previous study also present in the LOVD." "?" "?" "" "" "0" "" "" "USA, Netherlands, Italy or Slovenia" ""
"00075922" "" "" "" "1" "" "01695" "{PMID:Jaakson 2003:14517951}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome, possibly even in a previous study also present in the LOVD." "?" "?" "" "" "0" "" "" "USA, Netherlands, Italy or Slovenia" ""
"00075923" "" "" "" "1" "" "01695" "{PMID:Jaakson 2003:14517951}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome, possibly even in a previous study also present in the LOVD." "?" "?" "" "" "0" "" "" "USA, Netherlands, Italy or Slovenia" ""
"00075924" "" "" "" "1" "" "01695" "{PMID:Jaakson 2003:14517951}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome, possibly even in a previous study also present in the LOVD." "?" "?" "" "" "0" "" "" "USA, Netherlands, Italy or Slovenia" ""
"00075925" "" "" "" "1" "" "01695" "{PMID:Jaakson 2003:14517951}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome, possibly even in a previous study also present in the LOVD." "?" "?" "" "" "0" "" "" "USA, Netherlands, Italy or Slovenia" ""
"00075926" "" "" "" "1" "" "01695" "{PMID:Jaakson 2003:14517951}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome, possibly even in a previous study also present in the LOVD." "?" "?" "" "" "0" "" "" "USA, Netherlands, Italy or Slovenia" ""
"00075927" "" "" "" "1" "" "01695" "{PMID:Jaakson 2003:14517951}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome, possibly even in a previous study also present in the LOVD." "?" "?" "" "" "0" "" "" "USA, Netherlands, Italy or Slovenia" ""
"00075928" "" "" "" "1" "" "01695" "{PMID:Jaakson 2003:14517951}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome, possibly even in a previous study also present in the LOVD." "?" "?" "" "" "0" "" "" "USA, Netherlands, Italy or Slovenia" ""
"00075929" "" "" "" "1" "" "01695" "{PMID:Jaakson 2003:14517951}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome, possibly even in a previous study also present in the LOVD." "?" "?" "" "" "0" "" "" "USA, Netherlands, Italy or Slovenia" ""
"00075930" "" "" "" "1" "" "01695" "{PMID:Jaakson 2003:14517951}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome, possibly even in a previous study also present in the LOVD." "?" "?" "" "" "0" "" "" "USA, Netherlands, Italy or Slovenia" ""
"00075931" "" "" "" "1" "" "01695" "{PMID:Klevering 2004:15019334}" "4-generation family, 1 affected" "M" "?" "" "" "0" "" "" "?" ""
"00075932" "" "" "" "1" "" "01695" "{PMID:Klevering 2004:15019334}" "4-generation family, 2 affected" "F" "?" "" "" "0" "" "" "?" ""
"00075933" "" "" "" "1" "" "01695" "{PMID:Klevering 2004:15019334}" "4-generation family, 2 affected" "F" "?" "" "" "0" "" "" "?" ""
"00075934" "" "" "" "1" "" "01695" "{PMID:Klevering 2004:15019334}" "4-generation family, 2 affected" "M" "?" "" "" "0" "" "" "?" ""
"00075935" "" "" "" "1" "" "01695" "{PMID:Klevering 2004:15019334}" "4-generation family, 2 affected" "F" "?" "" "" "0" "" "" "?" ""
"00075936" "" "" "" "1" "" "01695" "{PMID:Klevering 2004:15019334}" "4-generation family, 2 affected" "F" "?" "" "" "0" "" "" "?" ""
"00075937" "" "" "" "1" "" "01695" "{PMID:Klevering 2004:15019334}" "4-generation family, 2 affected" "M" "?" "" "" "0" "" "" "?" ""
"00075938" "" "" "" "1" "" "01695" "{PMID:Klevering 2004:15019334}" "4-generation family, 2 affected" "M" "?" "" "" "0" "" "" "?" ""
"00075939" "" "" "" "1" "" "01695" "{PMID:Klevering 2004:15019334}" "4-generation family, 1 affected" "M" "?" "" "" "0" "" "" "?" ""
"00075940" "" "" "" "1" "" "01695" "{PMID:Klevering 2004:15019334}" "4-generation family, 2 affected" "F" "?" "" "" "0" "" "" "?" ""
"00075941" "" "" "" "1" "" "01695" "{PMID:Özgül 2004:15108289}" "" "?" "?" "Turkey" "" "0" "" "" "?" ""
"00075942" "" "" "" "1" "" "01695" "{PMID:Özgül 2004:15108289}" "" "?" "?" "Turkey" "" "0" "" "" "?" ""
"00075943" "" "" "" "1" "" "01695" "{PMID:Özgül 2004:15108289}" "" "?" "?" "Turkey" "" "0" "" "" "?" ""
"00075944" "" "" "" "1" "" "01695" "{PMID:Özgül 2004:15108289}" "" "?" "?" "Turkey" "" "0" "" "" "?" ""
"00075945" "" "" "" "1" "" "01695" "{PMID:Özgül 2004:15108289}" "" "?" "?" "Turkey" "" "0" "" "" "?" ""
"00075946" "" "" "" "1" "" "01695" "{PMID:September 2004:15161829}" "" "?" "?" "South Africa" "" "0" "" "" "?" ""
"00075947" "" "" "" "1" "" "01695" "{PMID:September 2004:15161829}" "4-generation family, 3 affected" "F" "?" "South Africa" "" "0" "" "" "?" ""
"00075948" "" "" "" "1" "" "01695" "{PMID:September 2004:15161829}" "4-generation family, 3 affected" "F" "?" "South Africa" "" "0" "" "" "?" ""
"00075949" "" "" "" "1" "" "01695" "{PMID:September 2004:15161829}" "4-generation family, 3 affected" "F" "?" "South Africa" "" "0" "" "" "?" ""
"00075950" "" "" "" "1" "" "01695" "{PMID:September 2004:15161829}" "" "?" "?" "South Africa" "" "0" "" "" "?" ""
"00075951" "" "" "" "1" "" "01695" "{PMID:September 2004:15161829}" "" "?" "?" "South Africa" "" "0" "" "" "?" ""
"00075952" "" "" "" "1" "" "01695" "{PMID:September 2004:15161829}" "" "?" "?" "South Africa" "" "0" "" "" "?" ""
"00075953" "" "" "" "1" "" "01695" "{PMID:September 2004:15161829}" "" "?" "?" "South Africa" "" "0" "" "" "?" ""
"00075954" "" "" "" "1" "" "01695" "{PMID:September 2004:15161829}" "" "?" "?" "South Africa" "" "0" "" "" "?" ""
"00075955" "" "" "" "1" "" "01695" "{PMID:September 2004:15161829}" "3-generation family, 2 affected" "M" "?" "South Africa" "" "0" "" "" "?" ""
"00075956" "" "" "" "1" "" "01695" "{PMID:September 2004:15161829}" "3-generation family, 2 affected" "M" "?" "South Africa" "" "0" "" "" "?" ""
"00075957" "" "" "" "1" "" "01695" "{PMID:September 2004:15161829}" "" "M" "?" "South Africa" "" "0" "" "" "?" ""
"00075958" "" "" "" "1" "" "01695" "{PMID:September 2004:15161829}" "" "M" "?" "South Africa" "" "0" "" "" "?" ""
"00075959" "" "" "" "1" "" "01695" "{PMID:September 2004:15161829}" "" "?" "?" "South Africa" "" "0" "" "" "?" ""
"00075960" "" "" "" "1" "" "01695" "{PMID:September 2004:15161829}" "" "?" "?" "South Africa" "" "0" "" "" "?" ""
"00075961" "" "" "" "1" "" "01695" "{PMID:September 2004:15161829}" "" "?" "?" "South Africa" "" "0" "" "" "?" ""
"00075962" "" "" "" "1" "" "01695" "{PMID:September 2004:15161829}" "" "?" "?" "South Africa" "" "0" "" "" "?" ""
"00075963" "" "" "" "1" "" "01695" "{PMID:September 2004:15161829}" "" "?" "?" "South Africa" "" "0" "" "" "?" ""
"00075964" "" "" "" "1" "" "01695" "{PMID:September 2004:15161829}" "" "?" "?" "South Africa" "" "0" "" "" "?" ""
"00075965" "" "" "" "1" "" "01695" "{PMID:September 2004:15161829}" "" "?" "?" "South Africa" "" "0" "" "" "?" ""
"00075966" "" "" "" "1" "" "01695" "{PMID:September 2004:15161829}" "" "?" "?" "South Africa" "" "0" "" "" "?" ""
"00075967" "" "" "" "1" "" "01695" "{PMID:September 2004:15161829}" "" "?" "?" "South Africa" "" "0" "" "" "?" ""
"00075968" "" "" "" "1" "" "01695" "{PMID:September 2004:15161829}" "" "?" "?" "South Africa" "" "0" "" "" "?" ""
"00075969" "" "" "" "1" "" "01695" "{PMID:September 2004:15161829}" "" "?" "?" "South Africa" "" "0" "" "" "?" ""
"00075970" "" "" "" "1" "" "01695" "{PMID:September 2004:15161829}" "" "?" "?" "South Africa" "" "0" "" "" "?" ""
"00075971" "" "" "" "1" "" "01695" "{PMID:September 2004:15161829}, {PMID:Roberts 2012:22328824}" "" "?" "?" "South Africa" "" "0" "" "" "?" ""
"00075972" "" "" "" "1" "" "01695" "{PMID:September 2004:15161829}" "" "?" "?" "South Africa" "" "0" "" "" "?" ""
"00075973" "" "" "" "1" "" "01695" "{PMID:September 2004:15161829}" "" "?" "?" "South Africa" "" "0" "" "" "?" ""
"00075974" "" "" "" "1" "" "01695" "{PMID:September 2004:15161829}" "" "?" "?" "South Africa" "" "0" "" "" "?" ""
"00075975" "" "" "" "1" "" "01695" "{PMID:September 2004:15161829}" "" "?" "?" "South Africa" "" "0" "" "" "?" ""
"00075976" "" "" "" "1" "" "01695" "{PMID:September 2004:15161829}" "" "?" "?" "South Africa" "" "0" "" "" "?" ""
"00075977" "" "" "" "1" "" "01695" "{PMID:September 2004:15161829}" "" "?" "?" "South Africa" "" "0" "" "" "?" ""
"00075978" "" "" "" "1" "" "01695" "{PMID:September 2004:15161829}" "" "?" "?" "South Africa" "" "0" "" "" "?" ""
"00075979" "" "" "" "1" "" "01695" "{PMID:September 2004:15161829}" "" "?" "?" "South Africa" "" "0" "" "" "?" ""
"00075980" "" "" "" "1" "" "01695" "{PMID:September 2004:15161829}" "" "?" "?" "South Africa" "" "0" "" "" "?" ""
"00075981" "" "" "" "1" "" "01695" "{PMID:September 2004:15161829}" "" "?" "?" "South Africa" "" "0" "" "" "?" ""
"00075982" "" "" "" "1" "" "01695" "{PMID:September 2004:15161829}" "" "?" "?" "South Africa" "" "0" "" "" "?" ""
"00075983" "" "" "" "1" "" "01695" "{PMID:September 2004:15161829}" "" "?" "?" "South Africa" "" "0" "" "" "?" ""
"00075984" "" "" "" "1" "" "01695" "{PMID:September 2004:15161829}" "" "?" "?" "South Africa" "" "0" "" "" "?" ""
"00075985" "" "" "" "1" "" "01695" "{PMID:September 2004:15161829}" "" "?" "?" "South Africa" "" "0" "" "" "?" ""
"00075986" "" "" "" "1" "" "01695" "{PMID:September 2004:15161829}" "" "?" "?" "South Africa" "" "0" "" "" "?" ""
"00075987" "" "" "" "1" "" "01695" "{PMID:September 2004:15161829}" "" "?" "?" "South Africa" "" "0" "" "" "Asian-Indian" ""
"00075988" "" "" "" "1" "" "01695" "{PMID:September 2004:15161829}" "" "?" "?" "South Africa" "" "0" "" "" "?" ""
"00075989" "" "" "" "1" "" "01695" "{PMID:September 2004:15161829}" "" "?" "?" "South Africa" "" "0" "" "" "?" ""
"00075990" "" "" "" "1" "" "01695" "{PMID:Fumagalli 2001:11702214}" "" "?" "?" "Italy" "" "0" "" "" "?" ""
"00075991" "" "" "" "1" "" "01695" "{PMID:Stenirri 2004:15192030}" "" "?" "?" "Italy" "" "0" "" "" "?" ""
"00075992" "" "" "" "1" "" "01695" "{PMID:Stenirri 2004:15192030}" "" "?" "?" "Italy" "" "0" "" "" "?" ""
"00075993" "" "" "" "1" "" "01695" "{PMID:Stenirri 2004:15192030}" "" "?" "?" "Italy" "" "0" "" "" "?" ""
"00075994" "" "" "" "1" "" "01695" "{PMID:Stenirri 2004:15192030}" "" "?" "?" "Italy" "" "0" "" "" "?" ""
"00075995" "" "" "" "1" "" "01695" "{PMID:Stenirri 2004:15192030}" "" "?" "?" "Italy" "" "0" "" "" "?" ""
"00075996" "" "" "" "1" "" "01695" "{PMID:Stenirri 2004:15192030}" "" "?" "?" "Italy" "" "0" "" "" "?" ""
"00075997" "" "" "" "1" "" "01695" "{PMID:Stenirri 2004:15192030}" "" "?" "?" "Italy" "" "0" "" "" "?" ""
"00075998" "" "" "" "1" "" "01695" "{PMID:Stenirri 2004:15192030}" "4466+3G>A was also identified in this patient" "?" "?" "Italy" "" "0" "" "" "?" ""
"00075999" "" "" "" "1" "" "01695" "{PMID:Stenirri 2004:15192030}" "c.5714+5G>A, r.[=, 5714+5g>a; 5714_5715ins5714+1_5714+150] was also identified in this patient" "?" "?" "Italy" "" "0" "" "" "?" ""
"00076000" "" "" "" "1" "" "01695" "{PMID:Stenirri 2004:15192030}" "" "?" "?" "Italy" "" "0" "" "" "?" ""
"00076001" "" "" "" "1" "" "01695" "{PMID:Stenirri 2004:15192030}" "" "?" "?" "Italy" "" "0" "" "" "?" ""
"00076002" "" "" "" "1" "" "01695" "{PMID:Stenirri 2004:15192030}" "" "?" "?" "Italy" "" "0" "" "" "?" ""
"00076003" "" "" "" "1" "" "01695" "{PMID:Stenirri 2004:15192030}" "" "?" "?" "Italy" "" "0" "" "" "?" ""
"00076004" "" "" "" "1" "" "01695" "{PMID:Stenirri 2004:15192030}, {PMID:Rossi 2012:23341817}" "c.667A>C, p.(Lys223Gln) was also identified in this patient" "M" "?" "Italy" "" "0" "" "" "?" ""
"00076005" "" "" "" "1" "" "01695" "{PMID:Stenirri 2004:15192030}" "" "?" "?" "Italy" "" "0" "" "" "?" ""
"00076006" "" "" "" "1" "" "01695" "{PMID:Stenirri 2004:15192030}" "" "?" "?" "Italy" "" "0" "" "" "?" ""
"00076007" "" "" "" "1" "" "01695" "{PMID:Klevering 2005:15614537}" "" "M" "?" "Netherlands" "" "0" "" "" "?" ""
"00076008" "" "" "" "1" "" "01695" "{PMID:Klevering 2005:15614537}" "" "M" "?" "Netherlands" "" "0" "" "" "?" ""
"00076009" "" "" "" "1" "" "01695" "{PMID:Klevering 2005:15614537}" "" "F" "?" "Netherlands" "" "0" "" "" "?" ""
"00076010" "" "" "" "1" "" "01695" "{PMID:Klevering 2005:15614537}" "" "F" "?" "Netherlands" "" "0" "" "" "?" ""
"00076011" "" "" "" "1" "" "01695" "{PMID:Klevering 2005:15614537}" "" "F" "?" "Netherlands" "" "0" "" "" "?" ""
"00076012" "" "" "" "1" "" "01695" "{PMID:Klevering 2005:15614537}" "" "M" "?" "Netherlands" "" "0" "" "" "?" ""
"00076013" "" "" "" "1" "" "01695" "{PMID:Simonelli 2005:15942264}" "" "?" "?" "Italy" "" "0" "" "" "?" ""
"00076014" "" "" "" "1" "" "01695" "{PMID:Simonelli 2005:15942264}, {PMID:Testa 2012:22661472}" "" "?" "?" "Italy" "" "0" "" "" "?" ""
"00076015" "" "" "" "1" "" "01695" "{PMID:Simonelli 2005:15942264}" "3 affected family members" "?" "?" "Italy" "" "0" "" "" "?" ""
"00076016" "" "" "" "1" "" "01695" "{PMID:Simonelli 2005:15942264}" "3 affected family members" "?" "?" "Italy" "" "0" "" "" "?" ""
"00076017" "" "" "" "1" "" "01695" "{PMID:Simonelli 2005:15942264}" "3 affected family members" "?" "?" "Italy" "" "0" "" "" "?" ""
"00076018" "" "" "" "1" "" "01695" "{PMID:Simonelli 2005:15942264}, {PMID:Testa 2012:22661472}" "" "?" "?" "Italy" "" "0" "" "" "?" ""
"00076019" "" "" "" "1" "" "01695" "{PMID:Simonelli 2005:15942264}" "" "?" "?" "Italy" "" "0" "" "" "?" ""
"00076020" "" "" "" "1" "" "01695" "{PMID:Simonelli 2005:15942264}, {PMID:Testa 2012:22661472}" "" "?" "?" "Italy" "" "0" "" "" "?" ""
"00076021" "" "" "" "1" "" "01695" "{PMID:Simonelli 2005:15942264}, {PMID:Testa 2012:22661472}" "" "?" "?" "Italy" "" "0" "" "" "?" ""
"00076022" "" "" "" "1" "" "01695" "{PMID:Simonelli 2005:15942264}" "" "?" "?" "Italy" "" "0" "" "" "?" ""
"00076023" "" "" "" "1" "" "01695" "{PMID:Simonelli 2005:15942264}" "" "?" "?" "Italy" "" "0" "" "" "?" ""
"00076024" "" "" "" "1" "" "01695" "{PMID:Simonelli 2005:15942264}" "2 affected family members" "?" "?" "Italy" "" "0" "" "" "?" ""
"00076025" "" "" "" "1" "" "01695" "{PMID:Simonelli 2005:15942264}" "2 affected family members" "?" "?" "Italy" "" "0" "" "" "?" ""
"00076026" "" "" "" "1" "" "01695" "{PMID:Simonelli 2005:15942264}, {PMID:Testa 2012:22661472}" "" "?" "?" "Italy" "" "0" "" "" "?" ""
"00076027" "" "" "" "1" "" "01695" "{PMID:Simonelli 2005:15942264}" "2 affected family members" "?" "?" "Italy" "" "0" "" "" "?" ""
"00076028" "" "" "" "1" "" "01695" "{PMID:Simonelli 2005:15942264}" "2 affected family members" "?" "?" "Italy" "" "0" "" "" "?" ""
"00076029" "" "" "" "1" "" "01695" "{PMID:Simonelli 2005:15942264}" "" "?" "?" "Italy" "" "0" "" "" "?" ""
"00076030" "" "" "" "1" "" "01695" "{PMID:Simonelli 2005:15942264}" "2 affected family members" "?" "?" "Italy" "" "0" "" "" "?" ""
"00076031" "" "" "" "1" "" "01695" "{PMID:Simonelli 2005:15942264}" "2 affected family members" "?" "?" "Italy" "" "0" "" "" "?" ""
"00076032" "" "" "" "1" "" "01695" "{PMID:Simonelli 2005:15942264}" "4 affected family members" "?" "?" "Italy" "" "0" "" "" "?" ""
"00076033" "" "" "" "1" "" "01695" "{PMID:Simonelli 2005:15942264}" "4 affected family members" "?" "?" "Italy" "" "0" "" "" "?" ""
"00076034" "" "" "" "1" "" "01695" "{PMID:Simonelli 2005:15942264}" "4 affected family members" "?" "?" "Italy" "" "0" "" "" "?" ""
"00076035" "" "" "" "1" "" "01695" "{PMID:Simonelli 2005:15942264}" "4 affected family members" "?" "?" "Italy" "" "0" "" "" "?" ""
"00076036" "" "" "" "1" "" "01695" "{PMID:Stenirri 2004:15192030}" "" "?" "?" "Italy" "" "0" "" "" "?" ""
"00076037" "" "" "" "1" "" "01695" "{PMID:Singh 2006:16546111}" "5-generation family, 3 affected" "M" "yes" "India" "" "0" "" "" "?" ""
"00076038" "" "" "" "1" "" "01695" "{PMID:Singh 2006:16546111}" "5-generation family, 3 affected" "M" "yes" "India" "" "0" "" "" "?" ""
"00076039" "" "" "" "1" "" "01695" "{PMID:Singh 2006:16546111}" "5-generation family, 3 affected" "M" "yes" "India" "" "0" "" "" "?" ""
"00076040" "" "" "" "1" "" "01695" "{PMID:Singh 2006:16546111}" "6-generation family, 2 affected" "M" "yes" "India" "" "0" "" "" "?" ""
"00076041" "" "" "" "1" "" "01695" "{PMID:Singh 2006:16546111}" "6-generation family, 2 affected" "F" "yes" "India" "" "0" "" "" "?" ""
"00076042" "" "" "" "1" "" "01695" "{PMID:Fukui 2006:16604398}" "" "M" "yes" "Japan" "" "0" "" "" "" ""
"00076043" "" "" "" "1" "" "01695" "{PMID:Fukui 2006:16604398}" "2-generation family, 2 affected" "M" "yes" "Japan" "" "0" "" "" "" ""
"00076044" "" "" "" "1" "" "01695" "{PMID:Fukui 2006:16604398}" "2-generation family, 2 affected" "M" "yes" "Japan" "" "0" "" "" "" ""
"00076045" "" "" "" "1" "" "01695" "{PMID:Stenirri 2006:16681420}" "" "M" "?" "Italy" "" "0" "" "" "" ""
"00076046" "" "" "" "1" "" "01695" "{PMID:Valverde 2006:16917483}, {PMID:Riveiro-Alvarez 2013:23755871}" "" "F" "?" "Spain" "" "0" "" "" "" ""
"00076047" "" "" "" "1" "" "01695" "{PMID:Valverde 2006:16917483}" "" "F" "?" "Spain" "" "0" "" "" "" ""
"00076048" "" "" "" "1" "" "01695" "{PMID:Valverde 2006:16917483}, {PMID:Riveiro-Alvarez 2013:23755871}" "" "F" "?" "Spain" "" "0" "" "" "" ""
"00076049" "" "" "" "1" "" "01695" "{PMID:Valverde 2006:16917483}" "" "F" "?" "Spain" "" "0" "" "" "" ""
"00076050" "" "" "" "1" "" "01695" "{PMID:Valverde 2006:16917483}, {PMID:Riveiro-Alvarez 2013:23755871}" "" "M" "?" "Spain" "" "0" "" "" "" ""
"00076051" "" "" "" "1" "" "01695" "{PMID:Valverde 2006:16917483}, {PMID:Riveiro-Alvarez 2013:23755871}" "" "F" "?" "Spain" "" "0" "" "" "" ""
"00076052" "" "" "" "1" "" "01695" "{PMID:Valverde 2006:16917483}, {PMID:Riveiro-Alvarez 2013:23755871}" "" "M" "?" "Spain" "" "0" "" "" "" ""
"00076053" "" "" "" "1" "" "01695" "{PMID:Valverde 2006:16917483}, {PMID:Riveiro-Alvarez 2013:23755871}" "" "F" "?" "Spain" "" "0" "" "" "" ""
"00076054" "" "" "" "1" "" "01695" "{PMID:Valverde 2006:16917483}, {PMID:Riveiro-Alvarez 2013:23755871}" "" "F" "?" "Spain" "" "0" "" "" "" ""
"00076055" "" "" "" "1" "" "01695" "{PMID:Valverde 2006:16917483}, {PMID:Riveiro-Alvarez 2013:23755871}" "455G>A and 6320G>A were also identified in this patient" "M" "?" "Spain" "" "0" "" "" "" ""
"00076056" "" "" "" "1" "" "01695" "{PMID:Valverde 2006:16917483}" "" "M" "?" "Spain" "" "0" "" "" "" ""
"00076057" "" "" "" "1" "" "01695" "{PMID:Valverde 2006:16917483}" "" "M" "?" "Spain" "" "0" "" "" "" ""
"00076058" "" "" "" "1" "" "01695" "{PMID:Valverde 2006:16917483}, {PMID:Riveiro-Alvarez 2013:23755871}" "" "M" "?" "Spain" "" "0" "" "" "" ""
"00076059" "" "" "" "1" "" "01695" "{PMID:Valverde 2006:16917483}, {PMID:Riveiro-Alvarez 2013:23755871}" "" "M" "?" "Spain" "" "0" "" "" "" ""
"00076060" "" "" "" "1" "" "01695" "{PMID:Valverde 2006:16917483}" "" "F" "?" "Spain" "" "0" "" "" "" ""
"00076061" "" "" "" "1" "" "01695" "{PMID:Valverde 2006:16917483}" "Also published in {PMID:Riveiro-Alvarez 2013:23755871}" "F" "?" "Spain" "" "0" "" "" "" ""
"00076062" "" "" "" "1" "" "01695" "{PMID:Valverde 2006:16917483}, {PMID:Riveiro-Alvarez 2013:23755871}" "" "F" "?" "Spain" "" "0" "" "" "" ""
"00076063" "" "" "" "1" "" "01695" "{PMID:Valverde 2006:16917483}" "Also published in {PMID:Riveiro-Alvarez 2013:23755871}" "F" "?" "Spain" "" "0" "" "" "" ""
"00076064" "" "" "" "1" "" "01695" "{PMID:Valverde 2006:16917483}" "Also published in {PMID:Riveiro-Alvarez 2013:23755871}" "F" "?" "Spain" "" "0" "" "" "" ""
"00076065" "" "" "" "1" "" "01695" "{PMID:Valverde 2006:16917483}" "Also published in {PMID:Riveiro-Alvarez 2013:23755871}" "F" "?" "Spain" "" "0" "" "" "" ""
"00076066" "" "" "" "1" "" "01695" "{PMID:Souied 1999:10509673}" "" "M" "?" "" "" "0" "" "" "?" ""
"00076067" "" "" "" "1" "" "01695" "{PMID:Rudolph 2002:12353176}" "2-generation family, 2 affected" "F" "yes" "Germany" "" "0" "" "" "?" ""
"00076068" "" "" "" "1" "" "01695" "{PMID:Rudolph 2002:12353176}" "2-generation family, 2 affected" "M" "yes" "Germany" "" "0" "" "" "?" ""
"00076069" "" "" "" "1" "" "01695" "{PMID:Simonelli 2004:15017103}" "4-generation family, 1 affected" "F" "yes" "Italy" "" "0" "" "" "?" ""
"00076070" "" "" "" "1" "" "01695" "{PMID:Kang Derwent 2004:15223829}" "" "M" "?" "" "" "0" "" "" "?" ""
"00076071" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2007:17277736}" "" "F" "no" "Spain" "" "0" "" "" "white" ""
"00076072" "" "" "" "1" "" "01695" "{PMID:Kitiratschky 2008:18285826}" "" "F" "?" "" "" "0" "" "" "(German):(United States)" ""
"00076073" "" "" "" "1" "" "01695" "{PMID:Kitiratschky 2008:18285826}" "" "M" "?" "" "" "0" "" "" "(German):(United States)" ""
"00076074" "" "" "" "1" "" "01695" "{PMID:Kitiratschky 2008:18285826}" "" "F" "?" "" "" "0" "" "" "(German):(United States)" ""
"00076075" "" "" "" "1" "" "01695" "{PMID:Kitiratschky 2008:18285826}" "" "F" "?" "" "" "0" "" "" "(German):(United States)" ""
"00076076" "" "" "" "1" "" "01695" "{PMID:Kitiratschky 2008:18285826}" "" "F" "?" "" "" "0" "" "" "(German):(United States)" ""
"00076077" "" "" "" "1" "" "01695" "{PMID:Kitiratschky 2008:18285826}" "" "M" "?" "" "" "0" "" "" "(German):(United States)" ""
"00076078" "" "" "" "1" "" "01695" "{PMID:Kitiratschky 2008:18285826}" "" "M" "?" "" "" "0" "" "" "(German):(United States)" ""
"00076079" "" "" "" "1" "" "01695" "{PMID:Kitiratschky 2008:18285826}" "" "F" "?" "" "" "0" "" "" "(German):(United States)" ""
"00076080" "" "" "" "1" "" "01695" "{PMID:Kitiratschky 2008:18285826}" "" "F" "?" "" "" "0" "" "" "(German):(United States)" ""
"00076081" "" "" "" "1" "" "01695" "{PMID:Kitiratschky 2008:18285826}" "" "F" "?" "" "" "0" "" "" "(German):(United States)" ""
"00076082" "" "" "" "1" "" "01695" "{PMID:Kitiratschky 2008:18285826}" "" "M" "?" "" "" "0" "" "" "(German):(United States)" ""
"00076083" "" "" "" "1" "" "01695" "{PMID:Kitiratschky 2008:18285826}" "" "M" "?" "" "" "0" "" "" "(German):(United States)" ""
"00076084" "" "" "" "1" "" "01695" "{PMID:Kitiratschky 2008:18285826}" "" "M" "?" "" "" "0" "" "" "(German):(United States)" ""
"00076085" "" "" "" "1" "" "01695" "{PMID:Kitiratschky 2008:18285826}" "" "F" "?" "" "" "0" "" "" "(German):(United States)" ""
"00076086" "" "" "" "1" "" "01695" "{PMID:Kitiratschky 2008:18285826}" "" "F" "?" "" "" "0" "" "" "(German):(United States)" ""
"00076087" "" "" "" "1" "" "01695" "{PMID:Kitiratschky 2008:18285826}" "" "M" "?" "" "" "0" "" "" "(German):(United States)" ""
"00076088" "" "" "" "1" "" "01695" "{PMID:Kitiratschky 2008:18285826}" "" "M" "?" "" "" "0" "" "" "(German):(United States)" ""
"00076089" "" "" "" "1" "" "01695" "{PMID:Kitiratschky 2008:18285826}" "" "F" "?" "" "" "0" "" "" "(German):(United States)" ""
"00076090" "" "" "" "1" "" "01695" "{PMID:Kitiratschky 2008:18285826}" "" "F" "?" "" "" "0" "" "" "(German):(United States)" ""
"00076091" "" "" "" "1" "" "01695" "{PMID:Kitiratschky 2008:18285826}" "" "F" "?" "" "" "0" "" "" "(German):(United States)" ""
"00076092" "" "" "" "1" "" "01695" "{PMID:Valverde 2007:17325136}" "" "?" "?" "Spain" "" "0" "" "" "" ""
"00076093" "" "" "" "1" "" "01695" "{PMID:Valverde 2007:17325136}" "" "?" "?" "Spain" "" "0" "" "" "" ""
"00076094" "" "" "" "1" "" "01695" "{PMID:Valverde 2007:17325136}" "" "?" "?" "Spain" "" "0" "" "" "" ""
"00076095" "" "" "" "1" "" "01695" "{PMID:Valverde 2007:17325136}" "" "?" "?" "Spain" "" "0" "" "" "" ""
"00076096" "" "" "" "1" "" "01695" "{PMID:Valverde 2007:17325136}" "" "?" "?" "Spain" "" "0" "" "" "" ""
"00076097" "" "" "" "1" "" "01695" "{PMID:Valverde 2007:17325136}" "" "?" "?" "Spain" "" "0" "" "" "" ""
"00076098" "" "" "" "1" "" "01695" "{PMID:Valverde 2007:17325136}, {PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "" ""
"00076099" "" "" "" "1" "" "01695" "{PMID:Valverde 2007:17325136}" "" "?" "?" "Spain" "" "0" "" "" "" ""
"00076100" "" "" "" "1" "" "01695" "{PMID:Valverde 2007:17325136}" "" "?" "?" "Spain" "" "0" "" "" "" ""
"00076101" "" "" "" "1" "" "01695" "{PMID:Valverde 2007:17325136}" "" "?" "?" "Spain" "" "0" "" "" "" ""
"00076102" "" "" "" "1" "" "01695" "{PMID:Valverde 2007:17325136}, {PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "" ""
"00076103" "" "" "" "1" "" "01695" "{PMID:Valverde 2007:17325136}, {PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "" ""
"00076104" "" "" "" "1" "" "01695" "{PMID:Valverde 2007:17325136}" "" "?" "?" "Spain" "" "0" "" "" "" ""
"00076105" "" "" "" "1" "" "01695" "{PMID:Valverde 2007:17325136}, {PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "" ""
"00076106" "" "" "" "1" "" "01695" "{PMID:Valverde 2007:17325136}" "" "?" "?" "Spain" "" "0" "" "" "" ""
"00076107" "" "" "" "1" "" "01695" "{PMID:Valverde 2007:17325136}" "" "?" "?" "Spain" "" "0" "" "" "" ""
"00076108" "" "" "" "1" "" "01695" "{PMID:Valverde 2007:17325136}" "" "?" "?" "Spain" "" "0" "" "" "" ""
"00076109" "" "" "" "1" "" "01695" "{PMID:Valverde 2007:17325136}" "" "?" "?" "Spain" "" "0" "" "" "" ""
"00076110" "" "" "" "1" "" "01695" "{PMID:Valverde 2007:17325136}" "" "?" "?" "Spain" "" "0" "" "" "" ""
"00076111" "" "" "" "1" "" "01695" "{PMID:Valverde 2007:17325136}" "" "?" "?" "Spain" "" "0" "" "" "" ""
"00076112" "" "" "" "1" "" "01695" "{PMID:Valverde 2007:17325136}" "" "?" "?" "Spain" "" "0" "" "" "" ""
"00076113" "" "" "" "1" "" "01695" "{PMID:Valverde 2007:17325136}" "" "?" "?" "Spain" "" "0" "" "" "" ""
"00076114" "" "" "" "1" "" "01695" "{PMID:Valverde 2007:17325136}" "" "?" "?" "Spain" "" "0" "" "" "" ""
"00076115" "" "" "" "1" "" "01695" "{PMID:Valverde 2007:17325136}" "" "?" "?" "Spain" "" "0" "" "" "" ""
"00076116" "" "" "" "1" "" "01695" "{PMID:Beit-Ya\'acov 2007:17724221}" "" "F" "yes" "" "" "0" "" "" "Arab" ""
"00076117" "" "" "" "1" "" "01695" "{PMID:Beit-Ya\'acov 2007:17724221}" "" "F" "yes" "" "" "0" "" "" "Arab" ""
"00076118" "" "" "" "1" "" "01695" "{PMID:Beit-Ya\'acov 2007:17724221}" "" "?" "yes" "" "" "0" "" "" "Arab" ""
"00076119" "" "" "" "1" "" "01695" "{PMID:Beit-Ya\'acov 2007:17724221}" "" "?" "yes" "" "" "0" "" "" "Arab" ""
"00076120" "" "" "" "1" "" "01695" "{PMID:Beit-Ya\'acov 2007:17724221}" "" "?" "yes" "" "" "0" "" "" "Arab" ""
"00076121" "" "" "" "1" "" "01695" "{PMID:Beit-Ya\'acov 2007:17724221}" "" "?" "yes" "" "" "0" "" "" "Arab" ""
"00076122" "" "" "" "1" "" "01695" "{PMID:Beit-Ya\'acov 2007:17724221}" "" "?" "yes" "" "" "0" "" "" "Arab" ""
"00076123" "" "" "" "1" "" "01695" "{PMID:Beit-Ya\'acov 2007:17724221}" "" "?" "yes" "" "" "0" "" "" "Arab" ""
"00076124" "" "" "" "1" "" "01695" "{PMID:Beit-Ya\'acov 2007:17724221}" "" "?" "yes" "" "" "0" "" "" "Arab" ""
"00076125" "" "" "" "1" "" "01695" "{PMID:Beit-Ya\'acov 2007:17724221}" "" "?" "yes" "" "" "0" "" "" "Arab" ""
"00076126" "" "" "" "1" "" "01695" "{PMID:Beit-Ya\'acov 2007:17724221}" "" "?" "yes" "" "" "0" "" "" "Arab" ""
"00076127" "" "" "" "1" "" "01695" "{PMID:Beit-Ya\'acov 2007:17724221}" "" "?" "yes" "" "" "0" "" "" "Arab" ""
"00076128" "" "" "" "1" "" "01695" "{PMID:Beit-Ya\'acov 2007:17724221}" "" "?" "yes" "" "" "0" "" "" "Arab" ""
"00076129" "" "" "" "1" "" "01695" "{PMID:Beit-Ya\'acov 2007:17724221}" "" "?" "yes" "" "" "0" "" "" "Arab" ""
"00076130" "" "" "" "1" "" "01695" "{PMID:Beit-Ya\'acov 2007:17724221}" "" "?" "yes" "" "" "0" "" "" "Arab" ""
"00076131" "" "" "" "1" "" "01695" "{PMID:Yzer 2007:17893657}" "6-generation family, 4 affected" "M" "no" "Netherlands" "" "0" "" "" "?" ""
"00076132" "" "" "" "1" "" "01695" "{PMID:Yzer 2007:17893657}" "6-generation family, 4 affected" "M" "no" "Netherlands" "" "0" "" "" "?" ""
"00076133" "" "" "" "1" "" "01695" "{PMID:Yzer 2007:17893657}" "6-generation family, 4 affected" "F" "no" "Netherlands" "" "0" "" "" "?" ""
"00076134" "" "" "" "1" "" "01695" "{PMID:Yzer 2007:17893657}" "6-generation family, 4 affected" "F" "no" "" "" "0" "" "" "São Miguel" ""
"00076135" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "" "?" "no" "" "" "0" "" "" "?" ""
"00076136" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "" "?" "no" "" "" "0" "" "" "?" ""
"00076137" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "" "?" "no" "" "" "0" "" "" "?" ""
"00076138" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "" "?" "no" "" "" "0" "" "" "?" ""
"00076139" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "" "?" "no" "" "" "0" "" "" "?" ""
"00076140" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "" "?" "no" "" "" "0" "" "" "?" ""
"00076141" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "" "?" "no" "" "" "0" "" "" "?" ""
"00076142" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "" "?" "no" "" "" "0" "" "" "?" ""
"00076143" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "" "?" "no" "" "" "0" "" "" "?" ""
"00076144" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "" "?" "no" "" "" "0" "" "" "?" ""
"00076145" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "" "?" "no" "" "" "0" "" "" "?" ""
"00076146" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "" "?" "no" "" "" "0" "" "" "?" ""
"00076147" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "" "?" "no" "" "" "0" "" "" "?" ""
"00076148" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "" "?" "no" "" "" "0" "" "" "?" ""
"00076149" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "" "?" "no" "" "" "0" "" "" "?" ""
"00076150" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "" "?" "no" "" "" "0" "" "" "?" ""
"00076151" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "" "?" "no" "" "" "0" "" "" "?" ""
"00076152" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "" "?" "no" "" "" "0" "" "" "?" ""
"00076153" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "" "?" "no" "" "" "0" "" "" "?" ""
"00076154" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "" "?" "no" "" "" "0" "" "" "?" ""
"00076155" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "" "?" "no" "" "" "0" "" "" "?" ""
"00076156" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "" "?" "no" "" "" "0" "" "" "?" ""
"00076157" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "" "?" "no" "" "" "0" "" "" "?" ""
"00076158" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "" "?" "no" "" "" "0" "" "" "?" ""
"00076159" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "" "?" "no" "" "" "0" "" "" "?" ""
"00076160" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "" "?" "no" "" "" "0" "" "" "?" ""
"00076161" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "" "?" "no" "" "" "0" "" "" "?" ""
"00076162" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "" "?" "no" "" "" "0" "" "" "?" ""
"00076163" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "no" "" "" "0" "" "" "?" ""
"00076164" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "no" "" "" "0" "" "" "?" ""
"00076165" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "no" "" "" "0" "" "" "?" ""
"00076166" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "no" "" "" "0" "" "" "?" ""
"00076167" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "no" "" "" "0" "" "" "?" ""
"00076168" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "no" "" "" "0" "" "" "?" ""
"00076169" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "no" "" "" "0" "" "" "?" ""
"00076170" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "no" "" "" "0" "" "" "?" ""
"00076171" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "no" "" "" "0" "" "" "?" ""
"00076172" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "no" "" "" "0" "" "" "?" ""
"00076173" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "no" "" "" "0" "" "" "?" ""
"00076174" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "no" "" "" "0" "" "" "?" ""
"00076175" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "no" "" "" "0" "" "" "?" ""
"00076176" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "no" "" "" "0" "" "" "?" ""
"00076177" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "no" "" "" "0" "" "" "?" ""
"00076178" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "no" "" "" "0" "" "" "?" ""
"00076179" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "no" "" "" "0" "" "" "?" ""
"00076180" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "no" "" "" "0" "" "" "?" ""
"00076181" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "no" "" "" "0" "" "" "?" ""
"00076182" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "no" "" "" "0" "" "" "?" ""
"00076183" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "no" "" "" "0" "" "" "?" ""
"00076184" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "no" "" "" "0" "" "" "?" ""
"00076185" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "no" "" "" "0" "" "" "?" ""
"00076186" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "no" "" "" "0" "" "" "?" ""
"00076187" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "no" "" "" "0" "" "" "?" ""
"00076188" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "no" "" "" "0" "" "" "?" ""
"00076189" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "no" "" "" "0" "" "" "?" ""
"00076190" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "no" "" "" "0" "" "" "?" ""
"00076191" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "no" "" "" "0" "" "" "?" ""
"00076192" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "no" "" "" "0" "" "" "?" ""
"00076193" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "no" "" "" "0" "" "" "?" ""
"00076194" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "no" "" "" "0" "" "" "?" ""
"00076195" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "no" "" "" "0" "" "" "?" ""
"00076196" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "no" "" "" "0" "" "" "?" ""
"00076197" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "no" "" "" "0" "" "" "?" ""
"00076198" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "no" "" "" "0" "" "" "?" ""
"00076199" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "no" "" "" "0" "" "" "?" ""
"00076200" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "no" "" "" "0" "" "" "?" ""
"00076201" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "no" "" "" "0" "" "" "?" ""
"00076202" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "no" "" "" "0" "" "" "?" ""
"00076203" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "no" "" "" "0" "" "" "?" ""
"00076204" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "no" "" "" "0" "" "" "?" ""
"00076205" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "no" "" "" "0" "" "" "?" ""
"00076206" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "no" "" "" "0" "" "" "?" ""
"00076207" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "no" "" "" "0" "" "" "?" ""
"00076208" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "no" "" "" "0" "" "" "?" ""
"00076209" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "no" "" "" "0" "" "" "?" ""
"00076210" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "no" "" "" "0" "" "" "?" ""
"00076211" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "no" "" "" "0" "" "" "?" ""
"00076212" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "no" "" "" "0" "" "" "?" ""
"00076213" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "no" "" "" "0" "" "" "?" ""
"00076214" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "no" "" "" "0" "" "" "?" ""
"00076215" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "no" "" "" "0" "" "" "?" ""
"00076216" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "no" "" "" "0" "" "" "?" ""
"00076217" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "no" "" "" "0" "" "" "?" ""
"00076218" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "no" "" "" "0" "" "" "?" ""
"00076219" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "no" "" "" "0" "" "" "?" ""
"00076220" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "no" "" "" "0" "" "" "?" ""
"00076221" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "no" "" "" "0" "" "" "?" ""
"00076222" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "no" "" "" "0" "" "" "?" ""
"00076223" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "no" "" "" "0" "" "" "?" ""
"00076224" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "no" "" "" "0" "" "" "?" ""
"00076225" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "no" "" "" "0" "" "" "?" ""
"00076226" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "no" "" "" "0" "" "" "?" ""
"00076227" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "no" "" "" "0" "" "" "?" ""
"00076228" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "no" "" "" "0" "" "" "?" ""
"00076229" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "no" "" "" "0" "" "" "?" ""
"00076230" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "no" "" "" "0" "" "" "?" ""
"00076231" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "no" "" "" "0" "" "" "?" ""
"00076232" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "no" "" "" "0" "" "" "?" ""
"00076233" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "no" "" "" "0" "" "" "?" ""
"00076234" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "no" "" "" "0" "" "" "?" ""
"00076235" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "no" "" "" "0" "" "" "?" ""
"00076236" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "no" "" "" "0" "" "" "?" ""
"00076237" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "no" "" "" "0" "" "" "?" ""
"00076238" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "no" "" "" "0" "" "" "?" ""
"00076239" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "no" "" "" "0" "" "" "?" ""
"00076240" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "no" "" "" "0" "" "" "?" ""
"00076241" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "no" "" "" "0" "" "" "?" ""
"00076242" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "no" "" "" "0" "" "" "?" ""
"00076243" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "no" "" "" "0" "" "" "?" ""
"00076244" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "no" "" "" "0" "" "" "?" ""
"00076245" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "no" "" "" "0" "" "" "?" ""
"00076246" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "no" "" "" "0" "" "" "?" ""
"00076247" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. On its own not significantely found more often in published STGD compared to ExAC (p-value 0.14). However, together with other non-significant variants published related to STGD, they are significantly more often in STGD patients (p-value <0.01)." "?" "no" "" "" "0" "" "" "?" ""
"00076248" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "no" "" "" "0" "" "" "?" ""
"00076249" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "no" "" "" "0" "" "" "?" ""
"00076250" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "no" "" "" "0" "" "" "?" ""
"00076251" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "no" "" "" "0" "" "" "?" ""
"00076252" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "no" "" "" "0" "" "" "?" ""
"00076253" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "no" "" "" "0" "" "" "?" ""
"00076254" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. On its own not significantely found more often in published STGD compared to ExAC (p-value 0.92). However, together with other non-significant variants published related to STGD, they are significantly more often in STGD patients (p-value <0.01)." "?" "no" "" "" "0" "" "" "?" ""
"00076255" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. On its own not significantely found more often in published STGD compared to ExAC (p-value 0.92). However, together with other non-significant variants published related to STGD, they are significantly more often in STGD patients (p-value <0.01)." "?" "no" "" "" "0" "" "" "?" ""
"00076256" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. On its own not significantely found more often in published STGD compared to ExAC (p-value 0.92). However, together with other non-significant variants published related to STGD, they are significantly more often in STGD patients (p-value <0.01)." "?" "no" "" "" "0" "" "" "?" ""
"00076257" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. On its own not significantely found more often in published STGD compared to ExAC (p-value 0.92). However, together with other non-significant variants published related to STGD, they are significantly more often in STGD patients (p-value <0.01)." "?" "no" "" "" "0" "" "" "?" ""
"00076258" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "no" "" "" "0" "" "" "?" ""
"00076259" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "no" "" "" "0" "" "" "?" ""
"00076260" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "no" "" "" "0" "" "" "?" ""
"00076261" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "no" "" "" "0" "" "" "?" ""
"00076262" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "no" "" "" "0" "" "" "?" ""
"00076263" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "no" "" "" "0" "" "" "?" ""
"00076264" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "no" "" "" "0" "" "" "?" ""
"00076265" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "no" "" "" "0" "" "" "?" ""
"00076266" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "no" "" "" "0" "" "" "?" ""
"00076267" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "no" "" "" "0" "" "" "?" ""
"00076268" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "no" "" "" "0" "" "" "?" ""
"00076269" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "no" "" "" "0" "" "" "?" ""
"00076270" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "no" "" "" "0" "" "" "?" ""
"00076271" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "no" "" "" "0" "" "" "?" ""
"00076272" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "no" "" "" "0" "" "" "?" ""
"00076273" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "no" "" "" "0" "" "" "?" ""
"00076274" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "no" "" "" "0" "" "" "?" ""
"00076275" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "no" "" "" "0" "" "" "?" ""
"00076276" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "no" "" "" "0" "" "" "?" ""
"00076277" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "no" "" "" "0" "" "" "?" ""
"00076278" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "no" "" "" "0" "" "" "?" ""
"00076279" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "no" "" "" "0" "" "" "?" ""
"00076280" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "no" "" "" "0" "" "" "?" ""
"00076281" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "no" "" "" "0" "" "" "?" ""
"00076282" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "no" "" "" "0" "" "" "?" ""
"00076283" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "no" "" "" "0" "" "" "?" ""
"00076284" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "no" "" "" "0" "" "" "?" ""
"00076285" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "no" "" "" "0" "" "" "?" ""
"00076286" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "no" "" "" "0" "" "" "?" ""
"00076287" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "no" "" "" "0" "" "" "?" ""
"00076288" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "no" "" "" "0" "" "" "?" ""
"00076289" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "no" "" "" "0" "" "" "?" ""
"00076290" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "no" "" "" "0" "" "" "?" ""
"00076291" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "no" "" "" "0" "" "" "?" ""
"00076292" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "no" "" "" "0" "" "" "?" ""
"00076293" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "no" "" "" "0" "" "" "?" ""
"00076294" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "no" "" "" "0" "" "" "?" ""
"00076295" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "no" "" "" "0" "" "" "?" ""
"00076296" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "no" "" "" "0" "" "" "?" ""
"00076297" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "no" "" "" "0" "" "" "?" ""
"00076298" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "no" "" "" "0" "" "" "?" ""
"00076299" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "no" "" "" "0" "" "" "?" ""
"00076300" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "no" "" "" "0" "" "" "?" ""
"00076301" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "no" "" "" "0" "" "" "?" ""
"00076302" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "no" "" "" "0" "" "" "?" ""
"00076303" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "no" "" "" "0" "" "" "?" ""
"00076304" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "no" "" "" "0" "" "" "?" ""
"00076305" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "no" "" "" "0" "" "" "?" ""
"00076306" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "no" "" "" "0" "" "" "?" ""
"00076307" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "no" "" "" "0" "" "" "?" ""
"00076308" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "no" "" "" "0" "" "" "?" ""
"00076309" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "no" "" "" "0" "" "" "?" ""
"00076310" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "no" "" "" "0" "" "" "?" ""
"00076311" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "no" "" "" "0" "" "" "?" ""
"00076312" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "no" "" "" "0" "" "" "?" ""
"00076313" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "no" "" "" "0" "" "" "?" ""
"00076314" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "no" "" "" "0" "" "" "?" ""
"00076315" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "no" "" "" "0" "" "" "?" ""
"00076316" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "no" "" "" "0" "" "" "?" ""
"00076317" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "no" "" "" "0" "" "" "?" ""
"00076318" "" "" "" "1" "" "01695" "{PMID:Rosenberg 2007:17982420}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "no" "" "" "0" "" "" "?" ""
"00076319" "" "" "" "1" "" "01695" "{PMID:Michaelides 2007:18024811}" "4-generation family, 3 affected" "F" "?" "Uganda" "" "0" "" "" "?" ""
"00076320" "" "" "" "1" "" "01695" "{PMID:Michaelides 2007:18024811}" "4-generation family, 3 affected" "M" "?" "Uganda" "" "0" "" "" "?" ""
"00076321" "" "" "" "1" "" "01695" "{PMID:Michaelides 2007:18024811}" "4-generation family, 3 affected" "F" "?" "Uganda" "" "0" "" "" "?" ""
"00076322" "" "" "" "1" "" "01695" "{PMID:Michaelides 2007:18024811}" "" "?" "?" "" "" "0" "" "" "?" ""
"00076323" "" "" "" "1" "" "01695" "{PMID:Michaelides 2007:18024811}" "" "?" "?" "" "" "0" "" "" "?" ""
"00076324" "" "" "" "1" "" "01695" "{PMID:Michaelides 2007:18024811}" "" "?" "?" "" "" "0" "" "" "?" ""
"00076325" "" "" "" "1" "" "01695" "{PMID:Michaelides 2007:18024811}" "" "?" "?" "" "" "0" "" "" "?" ""
"00076326" "" "" "" "1" "" "01695" "{PMID:Michaelides 2007:18024811}" "" "?" "?" "" "" "0" "" "" "?" ""
"00076327" "" "" "" "1" "" "01695" "{PMID:Michaelides 2007:18024811}" "4-generation family, 3 affected" "M" "?" "United Kingdom (Great Britain)" "" "0" "" "" "?" ""
"00076328" "" "" "" "1" "" "01695" "{PMID:Michaelides 2007:18024811}" "" "?" "?" "" "" "0" "" "" "?" ""
"00076329" "" "" "" "1" "" "01695" "{PMID:Michaelides 2007:18024811}" "" "?" "?" "" "" "0" "" "" "?" ""
"00076330" "" "" "" "1" "" "01695" "{PMID:Michaelides 2007:18024811}" "" "?" "?" "" "" "0" "" "" "?" ""
"00076331" "" "" "" "1" "" "01695" "{PMID:Michaelides 2007:18024811}" "" "?" "?" "" "" "0" "" "" "?" ""
"00076332" "" "" "" "1" "" "01695" "{PMID:Michaelides 2007:18024811}" "" "?" "?" "" "" "0" "" "" "?" ""
"00076333" "" "" "" "1" "" "01695" "{PMID:Michaelides 2007:18024811}" "" "?" "?" "" "" "0" "" "" "?" ""
"00076334" "" "" "" "1" "" "01695" "{PMID:Hwang 2009:18024811}" "" "M" "?" "Colombia" "" "0" "" "" "?" ""
"00076335" "" "" "" "1" "" "01695" "{PMID:Hwang 2009:18024811}" "" "F" "?" "Colombia" "" "0" "" "" "?" ""
"00076336" "" "" "" "1" "" "01695" "{PMID:Hwang 2009:18024811}" "" "F" "?" "Colombia" "" "0" "" "" "?" ""
"00076337" "" "" "" "1" "" "01695" "{PMID:Hwang 2009:18024811}" "" "M" "?" "Colombia" "" "0" "" "" "?" ""
"00076338" "" "" "" "1" "" "01695" "{PMID:Hwang 2009:18024811}" "2-generation familly, 2 affected" "M" "?" "Colombia" "" "0" "" "" "?" ""
"00076339" "" "" "" "1" "" "01695" "{PMID:Hwang 2009:18024811}" "2-generation familly, 2 affected" "M" "?" "Colombia" "" "0" "" "" "?" ""
"00076340" "" "" "" "1" "" "01695" "{PMID:Passerini 2010:19265867}" "" "?" "?" "Italy" "" "0" "" "" "?" ""
"00076341" "" "" "" "1" "" "01695" "{PMID:Passerini 2010:19265867}" "" "?" "?" "Italy" "" "0" "" "" "?" ""
"00076342" "" "" "" "1" "" "01695" "{PMID:Passerini 2010:19265867}" "" "?" "?" "Italy" "" "0" "" "" "?" ""
"00076343" "" "" "" "1" "" "01695" "{PMID:Passerini 2010:19265867}" "" "?" "?" "Italy" "" "0" "" "" "?" ""
"00076344" "" "" "" "1" "" "01695" "{PMID:Passerini 2010:19265867}, {PMID:Sodi 2010:20128570}, {PMID:Testa 2012:22661472}" "" "?" "?" "Italy" "" "0" "" "" "?" ""
"00076345" "" "" "" "1" "" "01695" "{PMID:Passerini 2010:19265867}" "" "?" "?" "Italy" "" "0" "" "" "?" ""
"00076346" "" "" "" "1" "" "01695" "{PMID:Passerini 2010:19265867}" "" "?" "?" "Italy" "" "0" "" "" "?" ""
"00076347" "" "" "" "1" "" "01695" "{PMID:Passerini 2010:19265867}" "" "?" "?" "Italy" "" "0" "" "" "?" ""
"00076348" "" "" "" "1" "" "01695" "{PMID:Passerini 2010:19265867}, {PMID:Sodi 2010:20128570}" "" "?" "?" "Italy" "" "0" "" "" "?" ""
"00076349" "" "" "" "1" "" "01695" "{PMID:Passerini 2010:19265867}" "" "?" "?" "Italy" "" "0" "" "" "?" ""
"00076350" "" "" "" "1" "" "01695" "{PMID:Passerini 2010:19265867}, {PMID:Sodi 2010:20128570}" "" "?" "?" "Italy" "" "0" "" "" "?" ""
"00076351" "" "" "" "1" "" "01695" "{PMID:Passerini 2010:19265867}" "" "?" "?" "Italy" "" "0" "" "" "?" ""
"00076352" "" "" "" "1" "" "01695" "{PMID:Passerini 2010:19265867}" "" "?" "?" "Italy" "" "0" "" "" "?" ""
"00076353" "" "" "" "1" "" "01695" "{PMID:Passerini 2010:19265867}" "" "?" "?" "Italy" "" "0" "" "" "?" ""
"00076354" "" "" "" "1" "" "01695" "{PMID:Passerini 2010:19265867}" "" "?" "?" "Italy" "" "0" "" "" "?" ""
"00076355" "" "" "" "1" "" "01695" "{PMID:Passerini 2010:19265867}" "" "?" "?" "Italy" "" "0" "" "" "?" ""
"00076356" "" "" "" "1" "" "01695" "{PMID:Passerini 2010:19265867}" "" "?" "?" "Italy" "" "0" "" "" "?" ""
"00076357" "" "" "" "1" "" "01695" "{PMID:Passerini 2010:19265867}, {PMID:Sodi 2010:20128570}" "" "?" "?" "Italy" "" "0" "" "" "?" ""
"00076358" "" "" "" "1" "" "01695" "{PMID:Passerini 2010:19265867}" "" "?" "?" "Italy" "" "0" "" "" "?" ""
"00076359" "" "" "" "1" "" "01695" "{PMID:Passerini 2010:19265867}" "" "?" "?" "Italy" "" "0" "" "" "?" ""
"00076360" "" "" "" "1" "" "01695" "{PMID:Passerini 2010:19265867}" "" "?" "?" "Italy" "" "0" "" "" "?" ""
"00076361" "" "" "" "1" "" "01695" "{PMID:Passerini 2010:19265867}" "" "?" "?" "Italy" "" "0" "" "" "?" ""
"00076362" "" "" "" "1" "" "01695" "{PMID:Passerini 2010:19265867}, {PMID:Sodi 2010:20128570}" "" "?" "?" "Italy" "" "0" "" "" "?" ""
"00076363" "" "" "" "1" "" "01695" "{PMID:Passerini 2010:19265867}" "" "?" "?" "Italy" "" "0" "" "" "?" ""
"00076364" "" "" "" "1" "" "01695" "{PMID:Passerini 2010:19265867}" "" "?" "?" "Italy" "" "0" "" "" "?" ""
"00076365" "" "" "" "1" "" "01695" "{PMID:Passerini 2010:19265867}" "" "?" "?" "Italy" "" "0" "" "" "?" ""
"00076366" "" "" "" "1" "" "01695" "{PMID:Passerini 2010:19265867}, {PMID:Sodi 2010:20128570}" "" "?" "?" "Italy" "" "0" "" "" "?" ""
"00076367" "" "" "" "1" "" "01695" "{PMID:Passerini 2010:19265867}" "" "?" "?" "Italy" "" "0" "" "" "?" ""
"00076368" "" "" "" "1" "" "01695" "{PMID:Passerini 2010:19265867}" "" "?" "?" "Italy" "" "0" "" "" "?" ""
"00076369" "" "" "" "1" "" "01695" "{PMID:Passerini 2010:19265867}" "" "?" "?" "Italy" "" "0" "" "" "?" ""
"00076370" "" "" "" "1" "" "01695" "{PMID:Passerini 2010:19265867}" "" "?" "?" "Italy" "" "0" "" "" "?" ""
"00076371" "" "" "" "1" "" "01695" "{PMID:Passerini 2010:19265867}" "" "?" "?" "Italy" "" "0" "" "" "?" ""
"00076372" "" "" "" "1" "" "01695" "{PMID:Passerini 2010:19265867}" "" "?" "?" "Italy" "" "0" "" "" "?" ""
"00076373" "" "" "" "1" "" "01695" "{PMID:Passerini 2010:19265867}, {PMID:Sodi 2010:20128570}, {PMID:Testa 2012:22661472}" "" "?" "?" "Italy" "" "0" "" "" "?" ""
"00076374" "" "" "" "1" "" "01695" "{PMID:Passerini 2010:19265867}" "" "?" "?" "Italy" "" "0" "" "" "?" ""
"00076375" "" "" "" "1" "" "01695" "{PMID:Passerini 2010:19265867}, {PMID:Sodi 2010:20128570}" "" "?" "?" "Italy" "" "0" "" "" "?" ""
"00076376" "" "" "" "1" "" "01695" "{PMID:Passerini 2010:19265867}" "" "?" "?" "Italy" "" "0" "" "" "?" ""
"00076377" "" "" "" "1" "" "01695" "{PMID:Passerini 2010:19265867}" "" "?" "?" "Italy" "" "0" "" "" "?" ""
"00076378" "" "" "" "1" "" "01695" "{PMID:Passerini 2010:19265867}" "" "?" "?" "Italy" "" "0" "" "" "?" ""
"00076379" "" "" "" "1" "" "01695" "{PMID:Passerini 2010:19265867}" "" "?" "?" "Italy" "" "0" "" "" "?" ""
"00076380" "" "" "" "1" "" "01695" "{PMID:Passerini 2010:19265867}" "" "?" "?" "Italy" "" "0" "" "" "?" ""
"00076381" "" "" "" "1" "" "01695" "{PMID:Passerini 2010:19265867}" "" "?" "?" "Italy" "" "0" "" "" "?" ""
"00076382" "" "" "" "1" "" "01695" "{PMID:Passerini 2010:19265867}" "" "?" "?" "Italy" "" "0" "" "" "?" ""
"00076383" "" "" "" "1" "" "01695" "{PMID:Passerini 2010:19265867}" "" "?" "?" "Italy" "" "0" "" "" "?" ""
"00076384" "" "" "" "1" "" "01695" "{PMID:Passerini 2010:19265867}, {PMID:Sodi 2010:20128570}" "" "?" "?" "Italy" "" "0" "" "" "?" ""
"00076385" "" "" "" "1" "" "01695" "{PMID:Passerini 2010:19265867}" "" "?" "?" "Italy" "" "0" "" "" "?" ""
"00076386" "" "" "" "1" "" "01695" "{PMID:Passerini 2010:19265867}" "" "?" "?" "Italy" "" "0" "" "" "?" ""
"00076387" "" "" "" "1" "" "01695" "{PMID:Passerini 2010:19265867}" "" "?" "?" "Italy" "" "0" "" "" "?" ""
"00076388" "" "" "" "1" "" "01695" "{PMID:Passerini 2010:19265867}" "" "?" "?" "Italy" "" "0" "" "" "?" ""
"00076389" "" "" "" "1" "" "01695" "{PMID:Passerini 2010:19265867}, {PMID:Sodi 2010:20128570}" "" "?" "?" "Italy" "" "0" "" "" "?" ""
"00076390" "" "" "" "1" "" "01695" "{PMID:Passerini 2010:19265867}" "" "?" "?" "Italy" "" "0" "" "" "?" ""
"00076391" "" "" "" "1" "" "01695" "{PMID:Passerini 2010:19265867}" "" "?" "?" "Italy" "" "0" "" "" "?" ""
"00076392" "" "" "" "1" "" "01695" "{PMID:Passerini 2010:19265867}" "" "?" "?" "Italy" "" "0" "" "" "?" ""
"00076393" "" "" "" "1" "" "01695" "{PMID:Passerini 2010:19265867}" "" "?" "?" "Italy" "" "0" "" "" "?" ""
"00076394" "" "" "" "1" "" "01695" "{PMID:Passerini 2010:19265867}, {PMID:Sodi 2010:20128570}" "" "?" "?" "Italy" "" "0" "" "" "?" ""
"00076395" "" "" "" "1" "" "01695" "{PMID:Passerini 2010:19265867}, {PMID:Sodi 2010:20128570}" "" "?" "?" "Italy" "" "0" "" "" "?" ""
"00076396" "" "" "" "1" "" "01695" "{PMID:Passerini 2010:19265867}, {PMID:Sodi 2010:20128570}, {PMID:Testa 2012:22661472}" "" "?" "?" "Italy" "" "0" "" "" "?" ""
"00076397" "" "" "" "1" "" "01695" "{PMID:Passerini 2010:19265867}" "" "?" "?" "Italy" "" "0" "" "" "?" ""
"00076398" "" "" "" "1" "" "01695" "{PMID:Passerini 2010:19265867}" "" "?" "?" "Italy" "" "0" "" "" "?" ""
"00076399" "" "" "" "1" "" "01695" "{PMID:Passerini 2010:19265867}" "" "?" "?" "Italy" "" "0" "" "" "?" ""
"00076400" "" "" "" "1" "" "01695" "{PMID:Passerini 2010:19265867}, {PMID:Sodi 2010:20128570}" "" "?" "?" "Italy" "" "0" "" "" "?" ""
"00076401" "" "" "" "1" "" "01695" "{PMID:Passerini 2010:19265867}" "" "?" "?" "Italy" "" "0" "" "" "?" ""
"00076402" "" "" "" "1" "" "01695" "{PMID:Passerini 2010:19265867}" "" "?" "?" "Italy" "" "0" "" "" "?" ""
"00076403" "" "" "" "1" "" "01695" "{PMID:Passerini 2010:19265867}" "" "?" "?" "Italy" "" "0" "" "" "?" ""
"00076404" "" "" "" "1" "" "01695" "{PMID:Passerini 2010:19265867}" "" "?" "?" "Italy" "" "0" "" "" "?" ""
"00076405" "" "" "" "1" "" "01695" "{PMID:Passerini 2010:19265867}, {PMID:Sodi 2010:20128570}" "" "?" "?" "Italy" "" "0" "" "" "?" ""
"00076406" "" "" "" "1" "" "01695" "{PMID:Passerini 2010:19265867}" "" "?" "?" "Italy" "" "0" "" "" "?" ""
"00076407" "" "" "" "1" "" "01695" "{PMID:Passerini 2010:19265867}" "" "?" "?" "Italy" "" "0" "" "" "?" ""
"00076408" "" "" "" "1" "" "01695" "{PMID:Stenirri 2008:18652558}" "Mutations were described separately. Therefore, it is possible that additional mutations were found." "?" "?" "Italy" "" "0" "" "" "?" ""
"00076409" "" "" "" "1" "" "01695" "{PMID:Stenirri 2008:18652558}" "Mutations were described separately. Therefore, it is possible that additional mutations were found." "?" "?" "Italy" "" "0" "" "" "?" ""
"00076410" "" "" "" "1" "" "01695" "{PMID:Stenirri 2008:18652558}" "Mutations were described separately. Therefore, it is possible that additional mutations were found." "?" "?" "Italy" "" "0" "" "" "?" ""
"00076411" "" "" "" "1" "" "01695" "{PMID:Stenirri 2008:18652558}" "Mutations were described separately. Therefore, it is possible that additional mutations were found." "?" "?" "Italy" "" "0" "" "" "?" ""
"00076412" "" "" "" "1" "" "01695" "{PMID:Stenirri 2008:18652558}" "Mutations were described separately. Therefore, it is possible that additional mutations were found." "?" "?" "Italy" "" "0" "" "" "?" ""
"00076413" "" "" "" "1" "" "01695" "{PMID:Stenirri 2008:18652558}" "Mutations were described separately. Therefore, it is possible that additional mutations were found." "?" "?" "Italy" "" "0" "" "" "?" ""
"00076414" "" "" "" "1" "" "01695" "{PMID:Stenirri 2008:18652558}" "Mutations were described separately. Therefore, it is possible that additional mutations were found." "?" "?" "Italy" "" "0" "" "" "?" ""
"00076415" "" "" "" "1" "" "01695" "{PMID:Stenirri 2008:18652558}" "Mutations were described separately. Therefore, it is possible that additional mutations were found." "?" "?" "Italy" "" "0" "" "" "?" ""
"00076416" "" "" "" "1" "" "01695" "{PMID:Stenirri 2008:18652558}" "Mutations were described separately. Therefore, it is possible that additional mutations were found." "?" "?" "Italy" "" "0" "" "" "?" ""
"00076417" "" "" "" "1" "" "01695" "{PMID:Stenirri 2008:18652558}" "Mutations were described separately. Therefore, it is possible that additional mutations were found." "?" "?" "Italy" "" "0" "" "" "?" ""
"00076418" "" "" "" "1" "" "01695" "{PMID:Stenirri 2008:18652558}" "Mutations were described separately. Therefore, it is possible that additional mutations were found." "?" "?" "Italy" "" "0" "" "" "?" ""
"00076419" "" "" "" "1" "" "01695" "{PMID:Stenirri 2008:18652558}" "Mutations were described separately. Therefore, it is possible that additional mutations were found." "?" "?" "Italy" "" "0" "" "" "?" ""
"00076420" "" "" "" "1" "" "01695" "{PMID:Stenirri 2008:18652558}" "Mutations were described separately. Therefore, it is possible that additional mutations were found." "?" "?" "Italy" "" "0" "" "" "?" ""
"00076421" "" "" "" "1" "" "01695" "{PMID:Stenirri 2008:18652558}" "Mutations were described separately. Therefore, it is possible that additional mutations were found." "?" "?" "Italy" "" "0" "" "" "?" ""
"00076422" "" "" "" "1" "" "01695" "{PMID:Stenirri 2008:18652558}" "Mutations were described separately. Therefore, it is possible that additional mutations were found." "?" "?" "Italy" "" "0" "" "" "?" ""
"00076423" "" "" "" "1" "" "01695" "{PMID:Stenirri 2008:18652558}" "Mutations were described separately. Therefore, it is possible that additional mutations were found." "?" "?" "Italy" "" "0" "" "" "?" ""
"00076424" "" "" "" "1" "" "01695" "{PMID:Stenirri 2008:18652558}" "Mutations were described separately. Therefore, it is possible that additional mutations were found." "?" "?" "Italy" "" "0" "" "" "?" ""
"00076425" "" "" "" "1" "" "01695" "{PMID:Stenirri 2008:18652558}" "Mutations were described separately. Therefore, it is possible that additional mutations were found." "?" "?" "Italy" "" "0" "" "" "?" ""
"00076426" "" "" "" "1" "" "01695" "{PMID:Stenirri 2008:18652558}" "Mutations were described separately. Therefore, it is possible that additional mutations were found." "?" "?" "Italy" "" "0" "" "" "?" ""
"00076427" "" "" "" "1" "" "01695" "{PMID:Stenirri 2008:18652558}" "Mutations were described separately. Therefore, it is possible that additional mutations were found." "?" "?" "Italy" "" "0" "" "" "?" ""
"00076428" "" "" "" "1" "" "01695" "{PMID:Stenirri 2008:18652558}" "Mutations were described separately. Therefore, it is possible that additional mutations were found." "?" "?" "Italy" "" "0" "" "" "?" ""
"00076429" "" "" "" "1" "" "01695" "{PMID:Stenirri 2008:18652558}" "Mutations were described separately. Therefore, it is possible that additional mutations were found." "?" "?" "Italy" "" "0" "" "" "?" ""
"00076430" "" "" "" "1" "" "01695" "{PMID:Stenirri 2008:18652558}" "Mutations were described separately. Therefore, it is possible that additional mutations were found." "?" "?" "Italy" "" "0" "" "" "?" ""
"00076431" "" "" "" "1" "" "01695" "{PMID:Stenirri 2008:18652558}" "Mutations were described separately. Therefore, it is possible that additional mutations were found." "?" "?" "Italy" "" "0" "" "" "?" ""
"00076432" "" "" "" "1" "" "01695" "{PMID:Stenirri 2008:18652558}" "Mutations were described separately. Therefore, it is possible that additional mutations were found." "?" "?" "Italy" "" "0" "" "" "?" ""
"00076433" "" "" "" "1" "" "01695" "{PMID:Stenirri 2008:18652558}" "Mutations were described separately. Therefore, it is possible that additional mutations were found." "?" "?" "Italy" "" "0" "" "" "?" ""
"00076434" "" "" "" "1" "" "01695" "{PMID:Stenirri 2008:18652558}" "Mutations were described separately. Therefore, it is possible that additional mutations were found." "?" "?" "Italy" "" "0" "" "" "?" ""
"00076435" "" "" "" "1" "" "01695" "{PMID:Stenirri 2008:18652558}" "Mutations were described separately. Therefore, it is possible that additional mutations were found." "?" "?" "Italy" "" "0" "" "" "?" ""
"00076436" "" "" "" "1" "" "01695" "{PMID:Stenirri 2008:18652558}" "Mutations were described separately. Therefore, it is possible that additional mutations were found." "?" "?" "Italy" "" "0" "" "" "?" ""
"00076437" "" "" "" "1" "" "01695" "{PMID:Stenirri 2008:18652558}" "Mutations were described separately. Therefore, it is possible that additional mutations were found." "?" "?" "Italy" "" "0" "" "" "?" ""
"00076438" "" "" "" "1" "" "01695" "{PMID:Stenirri 2008:18652558}" "Mutations were described separately. Therefore, it is possible that additional mutations were found." "?" "?" "Italy" "" "0" "" "" "?" ""
"00076439" "" "" "" "1" "" "01695" "{PMID:Stenirri 2008:18652558}" "Mutations were described separately. Therefore, it is possible that additional mutations were found." "?" "?" "Italy" "" "0" "" "" "?" ""
"00076440" "" "" "" "1" "" "01695" "{PMID:Stenirri 2008:18652558}" "Mutations were described separately. Therefore, it is possible that additional mutations were found." "?" "?" "Italy" "" "0" "" "" "?" ""
"00076441" "" "" "" "1" "" "01695" "{PMID:Stenirri 2008:18652558}" "Mutations were described separately. Therefore, it is possible that additional mutations were found." "?" "?" "Italy" "" "0" "" "" "?" ""
"00076442" "" "" "" "1" "" "01695" "{PMID:Stenirri 2008:18652558}" "Mutations were described separately. Therefore, it is possible that additional mutations were found." "?" "?" "Italy" "" "0" "" "" "?" ""
"00076443" "" "" "" "1" "" "01695" "{PMID:Stenirri 2008:18652558}" "Mutations were described separately. Therefore, it is possible that additional mutations were found." "?" "?" "Italy" "" "0" "" "" "?" ""
"00076444" "" "" "" "1" "" "01695" "{PMID:Stenirri 2008:18652558}" "Mutations were described separately. Therefore, it is possible that additional mutations were found." "?" "?" "Italy" "" "0" "" "" "?" ""
"00076445" "" "" "" "1" "" "01695" "{PMID:Stenirri 2008:18652558}" "Mutations were described separately. Therefore, it is possible that additional mutations were found." "?" "?" "Italy" "" "0" "" "" "?" ""
"00076446" "" "" "" "1" "" "01695" "{PMID:Stenirri 2008:18652558}" "Mutations were described separately. Therefore, it is possible that additional mutations were found." "?" "?" "Italy" "" "0" "" "" "?" ""
"00076447" "" "" "" "1" "" "01695" "{PMID:Stenirri 2008:18652558}" "Mutations were described separately. Therefore, it is possible that additional mutations were found." "?" "?" "Italy" "" "0" "" "" "?" ""
"00076448" "" "" "" "1" "" "01695" "{PMID:Stenirri 2008:18652558}" "Mutations were described separately. Therefore, it is possible that additional mutations were found." "?" "?" "Italy" "" "0" "" "" "?" ""
"00076449" "" "" "" "1" "" "01695" "{PMID:Stenirri 2008:18652558}" "Mutations were described separately. Therefore, it is possible that additional mutations were found." "?" "?" "Italy" "" "0" "" "" "?" ""
"00076450" "" "" "" "1" "" "01695" "{PMID:Stenirri 2008:18652558}" "Mutations were described separately. Therefore, it is possible that additional mutations were found." "?" "?" "Italy" "" "0" "" "" "?" ""
"00076451" "" "" "" "1" "" "01695" "{PMID:Stenirri 2008:18652558}" "Mutations were described separately. Therefore, it is possible that additional mutations were found." "?" "?" "Italy" "" "0" "" "" "?" ""
"00076452" "" "" "" "1" "" "01695" "{PMID:Stenirri 2008:18652558}" "Mutations were described separately. Therefore, it is possible that additional mutations were found." "?" "?" "Italy" "" "0" "" "" "?" ""
"00076453" "" "" "" "1" "" "01695" "{PMID:Stenirri 2008:18652558}" "Mutations were described separately. Therefore, it is possible that additional mutations were found." "?" "?" "Italy" "" "0" "" "" "?" ""
"00076454" "" "" "" "1" "" "01695" "{PMID:Stenirri 2008:18652558}" "Mutations were described separately. Therefore, it is possible that additional mutations were found." "?" "?" "Italy" "" "0" "" "" "?" ""
"00076455" "" "" "" "1" "" "01695" "{PMID:Stenirri 2008:18652558}" "Mutations were described separately. Therefore, it is possible that additional mutations were found." "?" "?" "Italy" "" "0" "" "" "?" ""
"00076456" "" "" "" "1" "" "01695" "{PMID:Stenirri 2008:18652558}" "Mutations were described separately. Therefore, it is possible that additional mutations were found." "?" "?" "Italy" "" "0" "" "" "?" ""
"00076457" "" "" "" "1" "" "01695" "{PMID:Stenirri 2008:18652558}" "Mutations were described separately. Therefore, it is possible that additional mutations were found." "?" "?" "Italy" "" "0" "" "" "?" ""
"00076458" "" "" "" "1" "" "01695" "{PMID:Stenirri 2008:18652558}" "Mutations were described separately. Therefore, it is possible that additional mutations were found." "?" "?" "Italy" "" "0" "" "" "?" ""
"00076459" "" "" "" "1" "" "01695" "{PMID:Stenirri 2008:18652558}" "Mutations were described separately. Therefore, it is possible that additional mutations were found." "?" "?" "Italy" "" "0" "" "" "?" ""
"00076460" "" "" "" "1" "" "01695" "{PMID:Stenirri 2008:18652558}" "Mutations were described separately. Therefore, it is possible that additional mutations were found." "?" "?" "Italy" "" "0" "" "" "?" ""
"00076461" "" "" "" "1" "" "01695" "{PMID:Stenirri 2008:18652558}" "Mutations were described separately. Therefore, it is possible that additional mutations were found." "?" "?" "Italy" "" "0" "" "" "?" ""
"00076462" "" "" "" "1" "" "01695" "{PMID:Stenirri 2008:18652558}" "Mutations were described separately. Therefore, it is possible that additional mutations were found." "?" "?" "Italy" "" "0" "" "" "?" ""
"00076463" "" "" "" "1" "" "01695" "{PMID:Stenirri 2008:18652558}" "Mutations were described separately. Therefore, it is possible that additional mutations were found." "?" "?" "Italy" "" "0" "" "" "?" ""
"00076464" "" "" "" "1" "" "01695" "{PMID:Stenirri 2008:18652558}" "Mutations were described separately. Therefore, it is possible that additional mutations were found." "?" "?" "Italy" "" "0" "" "" "?" ""
"00076465" "" "" "" "1" "" "01695" "{PMID:Stenirri 2008:18652558}" "Mutations were described separately. Therefore, it is possible that additional mutations were found." "?" "?" "Italy" "" "0" "" "" "?" ""
"00076466" "" "" "" "1" "" "01695" "{PMID:Stenirri 2008:18652558}" "Mutations were described separately. Therefore, it is possible that additional mutations were found." "?" "?" "Italy" "" "0" "" "" "?" ""
"00076467" "" "" "" "1" "" "01695" "{PMID:Stenirri 2008:18652558}" "Mutations were described separately. Therefore, it is possible that additional mutations were found." "?" "?" "Italy" "" "0" "" "" "?" ""
"00076468" "" "" "" "1" "" "01695" "{PMID:Stenirri 2008:18652558}" "Mutations were described separately. Therefore, it is possible that additional mutations were found." "?" "?" "Italy" "" "0" "" "" "?" ""
"00076469" "" "" "" "1" "" "01695" "{PMID:Stenirri 2008:18652558}" "Mutations were described separately. Therefore, it is possible that additional mutations were found." "?" "?" "Italy" "" "0" "" "" "?" ""
"00076470" "" "" "" "1" "" "01695" "{PMID:Stenirri 2008:18652558}" "Mutations were described separately. Therefore, it is possible that additional mutations were found." "?" "?" "Italy" "" "0" "" "" "?" ""
"00076471" "" "" "" "1" "" "01695" "{PMID:Stenirri 2008:18652558}" "Mutations were described separately. Therefore, it is possible that additional mutations were found." "?" "?" "Italy" "" "0" "" "" "?" ""
"00076472" "" "" "" "1" "" "01695" "{PMID:Stenirri 2008:18652558}" "Mutations were described separately. Therefore, it is possible that additional mutations were found." "?" "?" "Italy" "" "0" "" "" "?" ""
"00076473" "" "" "" "2" "" "01695" "{PMID:Riveiro-Alvarez 2008:18334942}" "2-generation familly, 2 affected" "M" "?" "Spain" "" "0" "" "" "?" "FamPatII1"
"00076474" "" "" "00076473" "1" "" "01695" "{PMID:Riveiro-Alvarez 2008:18334942}" "2-generation familly, 2 affected" "F" "?" "Spain" "" "0" "" "" "?" "FamPatII4"
"00076475" "" "" "" "1" "" "01695" "{PMID:Cella 2009:19217903}" "" "F" "?" "" "" "0" "" "" "?" ""
"00076476" "" "" "" "1" "" "01695" "{PMID:Cella 2009:19217903}" "" "F" "?" "" "" "0" "" "" "?" ""
"00076477" "" "" "" "1" "" "01695" "{PMID:Cella 2009:19217903}" "" "M" "?" "" "" "0" "" "" "?" ""
"00076478" "" "" "" "1" "" "01695" "{PMID:Cella 2009:19217903}" "" "F" "?" "" "" "0" "" "" "?" ""
"00076479" "" "" "" "1" "" "01695" "{PMID:Cella 2009:19217903}" "" "M" "?" "" "" "0" "" "" "?" ""
"00076480" "" "" "" "1" "" "01695" "{PMID:Cella 2009:19217903}" "" "M" "?" "" "" "0" "" "" "?" ""
"00076481" "" "" "" "1" "" "01695" "{PMID:Cella 2009:19217903}" "" "F" "?" "" "" "0" "" "" "?" ""
"00076482" "" "" "" "1" "" "01695" "{PMID:Cella 2009:19217903}" "" "F" "?" "" "" "0" "" "" "?" ""
"00076483" "" "" "" "1" "" "01695" "{PMID:Cella 2009:19217903}, {PMID:Nõupuu 2014:25301883}" "" "F" "?" "" "" "0" "" "" "?" ""
"00076484" "" "" "" "1" "" "01695" "{PMID:Cella 2009:19217903}, {PMID:Nõupuu 2014:25301883}" "" "M" "?" "" "" "0" "" "" "?" ""
"00076485" "" "" "" "1" "" "01695" "{PMID:Cella 2009:19217903}" "" "M" "?" "" "" "0" "" "" "?" ""
"00076486" "" "" "" "1" "" "01695" "{PMID:Cella 2009:19217903}" "" "F" "?" "" "" "0" "" "" "?" ""
"00076487" "" "" "" "1" "" "01695" "{PMID:Cella 2009:19217903}" "" "M" "?" "" "" "0" "" "" "?" ""
"00076488" "" "" "" "1" "" "01695" "{PMID:Cella 2009:19217903}" "" "F" "?" "" "" "0" "" "" "?" ""
"00076489" "" "" "" "1" "" "01695" "{PMID:Cella 2009:19217903}" "" "F" "?" "" "" "0" "" "" "?" ""
"00076490" "" "" "" "1" "" "01695" "{PMID:Xi 2009:19352439}" "" "F" "no" "United States" "" "0" "" "" "white, Ohio" ""
"00076491" "" "" "" "1" "" "01695" "{PMID:Xi 2009:19352439}" "" "F" "no" "United States" "" "0" "" "" "white, Ohio" ""
"00076492" "" "" "" "1" "" "01695" "{PMID:Maia-Lopes 2009:19365591}" "" "?" "?" "Portugal" "" "0" "" "" "?" ""
"00076493" "" "" "" "1" "" "01695" "{PMID:Maia-Lopes 2009:19365591}" "" "?" "?" "Portugal" "" "0" "" "" "?" ""
"00076494" "" "" "" "1" "" "01695" "{PMID:Maia-Lopes 2009:19365591}" "" "?" "?" "Portugal" "" "0" "" "" "?" ""
"00076495" "" "" "" "1" "" "01695" "{PMID:Maia-Lopes 2009:19365591}" "" "?" "?" "Portugal" "" "0" "" "" "?" ""
"00076496" "" "" "" "1" "" "01695" "{PMID:Maia-Lopes 2009:19365591}" "" "?" "?" "Portugal" "" "0" "" "" "?" ""
"00076497" "" "" "" "1" "" "01695" "{PMID:Maia-Lopes 2009:19365591}" "" "?" "?" "Portugal" "" "0" "" "" "?" ""
"00076498" "" "" "" "1" "" "01695" "{PMID:Maia-Lopes 2009:19365591}" "" "?" "?" "Portugal" "" "0" "" "" "?" ""
"00076499" "" "" "" "1" "" "01695" "{PMID:Maia-Lopes 2009:19365591}" "" "?" "?" "Portugal" "" "0" "" "" "?" ""
"00076500" "" "" "" "1" "" "01695" "{PMID:Maia-Lopes 2009:19365591}" "" "?" "?" "Portugal" "" "0" "" "" "?" ""
"00076501" "" "" "" "1" "" "01695" "{PMID:Maia-Lopes 2009:19365591}" "" "?" "?" "Portugal" "" "0" "" "" "?" ""
"00076502" "" "" "" "1" "" "01695" "{PMID:Maia-Lopes 2009:19365591}" "" "?" "?" "Portugal" "" "0" "" "" "?" ""
"00076503" "" "" "" "1" "" "01695" "{PMID:Maia-Lopes 2009:19365591}" "" "?" "?" "Portugal" "" "0" "" "" "?" ""
"00076504" "" "" "" "1" "" "01695" "{PMID:Maia-Lopes 2009:19365591}" "" "?" "?" "Portugal" "" "0" "" "" "?" ""
"00076505" "" "" "" "1" "" "01695" "{PMID:Maia-Lopes 2009:19365591}" "" "?" "?" "Portugal" "" "0" "" "" "?" ""
"00076506" "" "" "" "1" "" "01695" "{PMID:Maia-Lopes 2009:19365591}" "" "?" "?" "Portugal" "" "0" "" "" "?" ""
"00076507" "" "" "" "1" "" "01695" "{PMID:Maia-Lopes 2009:19365591}" "" "?" "?" "Portugal" "" "0" "" "" "?" ""
"00076508" "" "" "" "1" "" "01695" "{PMID:Maia-Lopes 2009:19365591}" "" "?" "?" "Portugal" "" "0" "" "" "?" ""
"00076509" "" "" "" "1" "" "01695" "{PMID:Maia-Lopes 2009:19365591}" "" "?" "?" "Portugal" "" "0" "" "" "?" ""
"00076510" "" "" "" "1" "" "01695" "{PMID:Maia-Lopes 2009:19365591}" "" "?" "?" "Portugal" "" "0" "" "" "?" ""
"00076511" "" "" "" "1" "" "01695" "{PMID:Maia-Lopes 2009:19365591}" "" "?" "?" "Portugal" "" "0" "" "" "?" ""
"00076512" "" "" "" "1" "" "01695" "{PMID:Maia-Lopes 2009:19365591}" "" "?" "?" "Portugal" "" "0" "" "" "?" ""
"00076513" "" "" "" "1" "" "01695" "{PMID:Genead 2009:19578016}" "" "F" "?" "" "" "0" "" "" "African American" ""
"00076514" "" "" "" "1" "" "01695" "{PMID:Genead 2009:19578016}" "" "F" "?" "" "" "0" "" "" "white" ""
"00076515" "" "" "" "1" "" "01695" "{PMID:Genead 2009:19578016}" "" "F" "?" "" "" "0" "" "" "white" ""
"00076516" "" "" "" "1" "" "01695" "{PMID:Genead 2009:19578016}" "" "F" "?" "" "" "0" "" "" "white" ""
"00076517" "" "" "" "1" "" "01695" "{PMID:Genead 2009:19578016}" "" "F" "?" "" "" "0" "" "" "white" ""
"00076518" "" "" "" "1" "" "01695" "{PMID:Genead 2009:19578016}" "" "F" "?" "" "" "0" "" "" "white" ""
"00076519" "" "" "" "1" "" "01695" "{PMID:Genead 2009:19578016}" "" "F" "?" "" "" "0" "" "" "Asian" ""
"00076520" "" "" "" "1" "" "01695" "{PMID:Aguirre-Lamban 2009:19959634}" "" "?" "?" "" "" "0" "" "" "?" ""
"00076521" "" "" "" "1" "" "01695" "{PMID:Aguirre-Lamban 2009:19959634}" "" "?" "?" "" "" "0" "" "" "?" ""
"00076522" "" "" "" "1" "" "01695" "{PMID:Aguirre-Lamban 2009:19959634}, {PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00076523" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}, {PMID:Aguirre-Lamban 2009:19959634}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00076524" "" "" "" "1" "" "01695" "{PMID:Aguirre-Lamban 2009:19959634}, {PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00076525" "" "" "" "1" "" "01695" "{PMID:Aguirre-Lamban 2009:19959634}, {PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00076526" "" "" "" "1" "" "01695" "{PMID:Aguirre-Lamban 2009:19959634}, {PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00076527" "" "" "" "1" "" "01695" "{PMID:Aguirre-Lamban 2009:19959634}" "" "?" "?" "" "" "0" "" "" "?" ""
"00076528" "" "" "" "1" "" "01695" "{PMID:Aguirre-Lamban 2009:19959634}, {PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00076529" "" "" "" "1" "" "01695" "{PMID:Aguirre-Lamban 2009:19959634}, {PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00076530" "" "" "" "1" "" "01695" "{PMID:Aguirre-Lamban 2009:19959634}, {PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00076531" "" "" "" "1" "" "01695" "{PMID:Aguirre-Lamban 2009:19959634}, {PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00076532" "" "" "" "1" "" "01695" "{PMID:Aguirre-Lamban 2009:19959634}, {PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00076533" "" "" "" "1" "" "01695" "{PMID:Aguirre-Lamban 2009:19959634}, {PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00076534" "" "" "" "1" "" "01695" "{PMID:Aguirre-Lamban 2009:19959634}, {PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00076535" "" "" "" "1" "" "01695" "{PMID:Aguirre-Lamban 2009:19959634}, {PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00076536" "" "" "" "1" "" "01695" "{PMID:Aguirre-Lamban 2009:19959634}, {PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00076537" "" "" "" "1" "" "01695" "{PMID:Ernest 2009:20029649}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "" "" "0" "" "" "?" ""
"00076538" "" "" "" "1" "" "01695" "{PMID:Ernest 2009:20029649}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "" "" "0" "" "" "?" ""
"00076539" "" "" "" "1" "" "01695" "{PMID:Ernest 2009:20029649}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "" "" "0" "" "" "?" ""
"00076540" "" "" "" "1" "" "01695" "{PMID:Ernest 2009:20029649}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "" "" "0" "" "" "?" ""
"00076541" "" "" "" "1" "" "01695" "{PMID:Ernest 2009:20029649}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "" "" "0" "" "" "?" ""
"00076542" "" "" "" "1" "" "01695" "{PMID:Ernest 2009:20029649}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "" "" "0" "" "" "?" ""
"00076543" "" "" "" "1" "" "01695" "{PMID:Ernest 2009:20029649}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "" "" "0" "" "" "?" ""
"00076544" "" "" "" "1" "" "01695" "{PMID:Ernest 2009:20029649}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "" "" "0" "" "" "?" ""
"00076545" "" "" "" "1" "" "01695" "{PMID:Ernest 2009:20029649}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "" "" "0" "" "" "?" ""
"00076546" "" "" "" "1" "" "01695" "{PMID:Ernest 2009:20029649}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "" "" "0" "" "" "?" ""
"00076547" "" "" "" "1" "" "01695" "{PMID:Ernest 2009:20029649}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "" "" "0" "" "" "?" ""
"00076548" "" "" "" "1" "" "01695" "{PMID:Ernest 2009:20029649}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "" "" "0" "" "" "?" ""
"00076549" "" "" "" "1" "" "01695" "{PMID:Ernest 2009:20029649}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "" "" "0" "" "" "?" ""
"00076550" "" "" "" "1" "" "01695" "{PMID:Ernest 2009:20029649}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "" "" "0" "" "" "?" ""
"00076551" "" "" "" "1" "" "01695" "{PMID:Ernest 2009:20029649}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. On its own not significantely found more often in published STGD compared to ExAC (p-value 0.71). However, together with other non-significant variants published related to STGD, they are significantly more often in STGD patients." "?" "?" "" "" "0" "" "" "?" ""
"00076552" "" "" "" "1" "" "01695" "{PMID:Ernest 2009:20029649}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "" "" "0" "" "" "?" ""
"00076553" "" "" "" "1" "" "01695" "{PMID:Ernest 2009:20029649}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "" "" "0" "" "" "?" ""
"00076554" "" "" "" "1" "" "01695" "{PMID:Ernest 2009:20029649}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "" "" "0" "" "" "?" ""
"00076555" "" "" "" "1" "" "01695" "{PMID:Ernest 2009:20029649}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "" "" "0" "" "" "?" ""
"00076556" "" "" "" "1" "" "01695" "{PMID:Ernest 2009:20029649}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "" "" "0" "" "" "?" ""
"00076557" "" "" "" "1" "" "01695" "{PMID:Ernest 2009:20029649}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "" "" "0" "" "" "?" ""
"00076558" "" "" "" "1" "" "01695" "{PMID:Ernest 2009:20029649}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "" "" "0" "" "" "?" ""
"00076559" "" "" "" "1" "" "01695" "{PMID:Ernest 2009:20029649}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "" "" "0" "" "" "?" ""
"00076560" "" "" "" "1" "" "01695" "{PMID:Ernest 2009:20029649}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome. On its own not significantely found more often in published STGD compared to ExAC (p-value 0.79). However, together with other non-significant variants published related to STGD, they are significantly more often in STGD patients." "?" "?" "" "" "0" "" "" "?" ""
"00076561" "" "" "" "1" "" "01695" "{PMID:Ernest 2009:20029649}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "" "" "0" "" "" "?" ""
"00076562" "" "" "" "1" "" "01695" "{PMID:Ernest 2009:20029649}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "" "" "0" "" "" "?" ""
"00076563" "" "" "" "1" "" "01695" "{PMID:Ernest 2009:20029649}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "" "" "0" "" "" "?" ""
"00076564" "" "" "" "1" "" "01695" "{PMID:Ernest 2009:20029649}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "" "" "0" "" "" "?" ""
"00076565" "" "" "" "1" "" "01695" "{PMID:Ernest 2009:20029649}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "" "" "0" "" "" "?" ""
"00076566" "" "" "" "1" "" "01695" "{PMID:Ernest 2009:20029649}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "" "" "0" "" "" "?" ""
"00076567" "" "" "" "1" "" "01695" "{PMID:Ernest 2009:20029649}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "" "" "0" "" "" "?" ""
"00076568" "" "" "" "1" "" "01695" "{PMID:Ernest 2009:20029649}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "" "" "0" "" "" "?" ""
"00076569" "" "" "" "1" "" "01695" "{PMID:Ernest 2009:20029649}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "" "" "0" "" "" "?" ""
"00076570" "" "" "" "1" "" "01695" "{PMID:Ernest 2009:20029649}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "" "" "0" "" "" "?" ""
"00076571" "" "" "" "1" "" "01695" "{PMID:Ernest 2009:20029649}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "" "" "0" "" "" "?" ""
"00076572" "" "" "" "1" "" "01695" "{PMID:Ernest 2009:20029649}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "" "" "0" "" "" "?" ""
"00076573" "" "" "" "1" "" "01695" "{PMID:Ernest 2009:20029649}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "" "" "0" "" "" "?" ""
"00076574" "" "" "" "1" "" "01695" "{PMID:Ernest 2009:20029649}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "" "" "0" "" "" "?" ""
"00076575" "" "" "" "1" "" "01695" "{PMID:Ernest 2009:20029649}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "" "" "0" "" "" "?" ""
"00076576" "" "" "" "1" "" "01695" "{PMID:Ernest 2009:20029649}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "" "" "0" "" "" "?" ""
"00076577" "" "" "" "1" "" "01695" "{PMID:Ernest 2009:20029649}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "" "" "0" "" "" "?" ""
"00076578" "" "" "" "1" "" "01695" "{PMID:Ernest 2009:20029649}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "" "" "0" "" "" "?" ""
"00076579" "" "" "" "1" "" "01695" "{PMID:Ernest 2009:20029649}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "" "" "0" "" "" "?" ""
"00076580" "" "" "" "1" "" "01695" "{PMID:Ernest 2009:20029649}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "" "" "0" "" "" "?" ""
"00076581" "" "" "" "1" "" "01695" "{PMID:Ernest 2009:20029649}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "" "" "0" "" "" "?" ""
"00076582" "" "" "" "1" "" "01695" "{PMID:Ernest 2009:20029649}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "" "" "0" "" "" "?" ""
"00076583" "" "" "" "1" "" "01695" "{PMID:Ernest 2009:20029649}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "" "" "0" "" "" "?" ""
"00076584" "" "" "" "1" "" "01695" "{PMID:Ernest 2009:20029649}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "" "" "0" "" "" "?" ""
"00076585" "" "" "" "1" "" "01695" "{PMID:Ernest 2009:20029649}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "" "" "0" "" "" "?" ""
"00076586" "" "" "" "1" "" "01695" "{PMID:Ernest 2009:20029649}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "" "" "0" "" "" "?" ""
"00076587" "" "" "" "1" "" "01695" "{PMID:Ernest 2009:20029649}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "" "" "0" "" "" "?" ""
"00076588" "" "" "" "1" "" "01695" "{PMID:Ernest 2009:20029649}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "" "" "0" "" "" "?" ""
"00076589" "" "" "" "1" "" "01695" "{PMID:Ernest 2009:20029649}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "" "" "0" "" "" "?" ""
"00076590" "" "" "" "1" "" "01695" "{PMID:Ernest 2009:20029649}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "" "" "0" "" "" "?" ""
"00076591" "" "" "" "1" "" "01695" "{PMID:Ernest 2009:20029649}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "" "" "0" "" "" "?" ""
"00076592" "" "" "" "1" "" "01695" "{PMID:Ernest 2009:20029649}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "" "" "0" "" "" "?" ""
"00076593" "" "" "" "1" "" "01695" "{PMID:Ernest 2009:20029649}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "" "" "0" "" "" "?" ""
"00076594" "" "" "" "1" "" "01695" "{PMID:Ernest 2009:20029649}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "" "" "0" "" "" "?" ""
"00076595" "" "" "" "1" "" "01695" "{PMID:Ernest 2009:20029649}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "" "" "0" "" "" "?" ""
"00076596" "" "" "" "1" "" "01695" "{PMID:Ernest 2009:20029649}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "" "" "0" "" "" "?" ""
"00076597" "" "" "" "1" "" "01695" "{PMID:Ernest 2009:20029649}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "" "" "0" "" "" "?" ""
"00076598" "" "" "" "1" "" "01695" "{PMID:Ernest 2009:20029649}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "" "" "0" "" "" "?" ""
"00076599" "" "" "" "1" "" "01695" "{PMID:Ernest 2009:20029649}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "" "" "0" "" "" "?" ""
"00076600" "" "" "" "1" "" "01695" "{PMID:Ernest 2009:20029649}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "" "" "0" "" "" "?" ""
"00076601" "" "" "" "1" "" "01695" "{PMID:Ernest 2009:20029649}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "" "" "0" "" "" "?" ""
"00076602" "" "" "" "1" "" "01695" "{PMID:Ernest 2009:20029649}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "" "" "0" "" "" "?" ""
"00076603" "" "" "" "1" "" "01695" "{PMID:Ernest 2009:20029649}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "" "" "0" "" "" "?" ""
"00076604" "" "" "" "1" "" "01695" "{PMID:Ernest 2009:20029649}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "" "" "0" "" "" "?" ""
"00076605" "" "" "" "1" "" "01695" "{PMID:Ernest 2009:20029649}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "" "" "0" "" "" "?" ""
"00076606" "" "" "" "1" "" "01695" "{PMID:Ernest 2009:20029649}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "" "" "0" "" "" "?" ""
"00076607" "" "" "" "1" "" "01695" "{PMID:Ernest 2009:20029649}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "" "" "0" "" "" "?" ""
"00076608" "" "" "" "1" "" "01695" "{PMID:Ernest 2009:20029649}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "" "" "0" "" "" "?" ""
"00076609" "" "" "" "1" "" "01695" "{PMID:Ernest 2009:20029649}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "" "" "0" "" "" "?" ""
"00076610" "" "" "" "1" "" "01695" "{PMID:Ernest 2009:20029649}" "Mutations were described per allele, not per patient. Therefore, it is possible that another mutation was found on the other chromosome." "?" "?" "" "" "0" "" "" "?" ""
"00076611" "" "" "" "1" "" "01695" "{PMID:Horn 2010:20532522}" "" "F" "?" "Germany" "" "0" "" "" "?" ""
"00076612" "" "" "" "1" "" "01695" "{PMID:Littink 2010:20554613}" "" "?" "yes" "Germany" "" "0" "" "" "Iraqi" ""
"00076613" "" "" "" "1" "" "01695" "{PMID:Littink 2010:20554613}" "" "?" "yes" "Germany" "" "0" "" "" "Iraqi" ""
"00076614" "" "" "" "1" "" "01695" "{PMID:Littink 2010:20554613}" "" "?" "yes" "Germany" "" "0" "" "" "Iraqi" ""
"00076615" "" "" "" "1" "" "01695" "{PMID:Littink 2010:20554613}" "" "?" "no" "Canada" "" "0" "" "" "Pakistani" ""
"00076616" "" "" "" "1" "" "01695" "{PMID:Schindler 2010:20647261}" "" "?" "?" "United States" "" "0" "" "" "Iowa" ""
"00076617" "" "" "" "1" "" "01695" "{PMID:Schindler 2010:20647261}" "" "?" "?" "United States" "" "0" "" "" "Iowa" ""
"00076618" "" "" "" "1" "" "01695" "{PMID:Schindler 2010:20647261}" "" "?" "?" "United States" "" "0" "" "" "Iowa" ""
"00076619" "" "" "" "1" "" "01695" "{PMID:Schindler 2010:20647261}" "" "?" "?" "United States" "" "0" "" "" "Iowa" ""
"00076620" "" "" "" "1" "" "01695" "{PMID:Schindler 2010:20647261}" "" "?" "?" "United States" "" "0" "" "" "Iowa" ""
"00076621" "" "" "" "1" "" "01695" "{PMID:Schindler 2010:20647261}" "" "?" "?" "United States" "" "0" "" "" "Iowa" ""
"00076622" "" "" "" "1" "" "01695" "{PMID:Schindler 2010:20647261}" "" "?" "?" "United States" "" "0" "" "" "Iowa" ""
"00076623" "" "" "" "1" "" "01695" "{PMID:Schindler 2010:20647261}" "" "?" "?" "United States" "" "0" "" "" "Iowa" ""
"00076624" "" "" "" "1" "" "01695" "{PMID:Schindler 2010:20647261}" "" "?" "?" "United States" "" "0" "" "" "Iowa" ""
"00076625" "" "" "" "1" "" "01695" "{PMID:Schindler 2010:20647261}" "" "?" "?" "United States" "" "0" "" "" "Iowa" ""
"00076626" "" "" "" "1" "" "01695" "{PMID:Schindler 2010:20647261}" "" "?" "?" "United States" "" "0" "" "" "Iowa" ""
"00076627" "" "" "" "1" "" "01695" "{PMID:Schindler 2010:20647261}" "" "?" "?" "United States" "" "0" "" "" "Iowa" ""
"00076628" "" "" "" "1" "" "01695" "{PMID:Schindler 2010:20647261}" "" "?" "?" "United States" "" "0" "" "" "Iowa" ""
"00076629" "" "" "" "1" "" "01695" "{PMID:Schindler 2010:20647261}" "" "?" "?" "United States" "" "0" "" "" "Iowa" ""
"00076630" "" "" "" "1" "" "01695" "{PMID:Schindler 2010:20647261}" "" "?" "?" "United States" "" "0" "" "" "Iowa" ""
"00076631" "" "" "" "1" "" "01695" "{PMID:Schindler 2010:20647261}" "" "?" "?" "United States" "" "0" "" "" "Iowa" ""
"00076632" "" "" "" "1" "" "01695" "{PMID:Schindler 2010:20647261}" "" "?" "?" "United States" "" "0" "" "" "Iowa" ""
"00076633" "" "" "" "1" "" "01695" "{PMID:Schindler 2010:20647261}" "" "?" "?" "United States" "" "0" "" "" "Iowa" ""
"00076634" "" "" "" "1" "" "01695" "{PMID:Schindler 2010:20647261}" "" "?" "?" "United States" "" "0" "" "" "Iowa" ""
"00076635" "" "" "" "1" "" "01695" "{PMID:Schindler 2010:20647261}" "" "?" "?" "United States" "" "0" "" "" "Iowa" ""
"00076636" "" "" "" "1" "" "01695" "{PMID:Schindler 2010:20647261}" "" "?" "?" "United States" "" "0" "" "" "Iowa" ""
"00076637" "" "" "" "1" "" "01695" "{PMID:Schindler 2010:20647261}" "" "?" "?" "United States" "" "0" "" "" "Iowa" ""
"00076638" "" "" "" "1" "" "01695" "{PMID:Schindler 2010:20647261}" "" "?" "?" "United States" "" "0" "" "" "Iowa" ""
"00076639" "" "" "" "1" "" "01695" "{PMID:Schindler 2010:20647261}" "" "?" "?" "United States" "" "0" "" "" "Iowa" ""
"00076640" "" "" "" "1" "" "01695" "{PMID:Schindler 2010:20647261}" "" "?" "?" "United States" "" "0" "" "" "Iowa" ""
"00076641" "" "" "" "1" "" "01695" "{PMID:Schindler 2010:20647261}" "" "?" "?" "United States" "" "0" "" "" "Iowa" ""
"00076642" "" "" "" "1" "" "01695" "{PMID:Schindler 2010:20647261}" "" "?" "?" "United States" "" "0" "" "" "Iowa" ""
"00076643" "" "" "" "1" "" "01695" "{PMID:Schindler 2010:20647261}" "" "?" "?" "United States" "" "0" "" "" "Iowa" ""
"00076644" "" "" "" "1" "" "01695" "{PMID:Schindler 2010:20647261}" "" "?" "?" "United States" "" "0" "" "" "Iowa" ""
"00076645" "" "" "" "1" "" "01695" "{PMID:Schindler 2010:20647261}" "" "?" "?" "United States" "" "0" "" "" "Iowa" ""
"00076646" "" "" "" "1" "" "01695" "{PMID:Schindler 2010:20647261}" "" "?" "?" "United States" "" "0" "" "" "Iowa" ""
"00076647" "" "" "" "1" "" "01695" "{PMID:Schindler 2010:20647261}" "" "?" "?" "United States" "" "0" "" "" "Iowa" ""
"00076648" "" "" "" "1" "" "01695" "{PMID:Schindler 2010:20647261}" "" "?" "?" "United States" "" "0" "" "" "Iowa" ""
"00076649" "" "" "" "1" "" "01695" "{PMID:Schindler 2010:20647261}" "" "?" "?" "United States" "" "0" "" "" "Iowa" ""
"00076650" "" "" "" "1" "" "01695" "{PMID:Schindler 2010:20647261}" "" "?" "?" "United States" "" "0" "" "" "Iowa" ""
"00076651" "" "" "" "1" "" "01695" "{PMID:Schindler 2010:20647261}" "" "?" "?" "United States" "" "0" "" "" "Iowa" ""
"00076652" "" "" "" "1" "" "01695" "{PMID:Schindler 2010:20647261}" "" "?" "?" "United States" "" "0" "" "" "Iowa" ""
"00076653" "" "" "" "1" "" "01695" "{PMID:Schindler 2010:20647261}" "" "?" "?" "United States" "" "0" "" "" "Iowa" ""
"00076654" "" "" "" "1" "" "01695" "{PMID:Schindler 2010:20647261}" "" "?" "?" "United States" "" "0" "" "" "Iowa" ""
"00076655" "" "" "" "1" "" "01695" "{PMID:Schindler 2010:20647261}" "" "?" "?" "United States" "" "0" "" "" "Iowa" ""
"00076656" "" "" "" "1" "" "01695" "{PMID:Schindler 2010:20647261}" "" "?" "?" "United States" "" "0" "" "" "Iowa" ""
"00076657" "" "" "" "1" "" "01695" "{PMID:Schindler 2010:20647261}" "" "?" "?" "United States" "" "0" "" "" "Iowa" ""
"00076658" "" "" "" "1" "" "01695" "{PMID:Schindler 2010:20647261}" "" "?" "?" "United States" "" "0" "" "" "Iowa" ""
"00076659" "" "" "" "1" "" "01695" "{PMID:Schindler 2010:20647261}" "" "?" "?" "United States" "" "0" "" "" "Iowa" ""
"00076660" "" "" "" "1" "" "01695" "{PMID:Schindler 2010:20647261}" "" "?" "?" "United States" "" "0" "" "" "Iowa" ""
"00076661" "" "" "" "1" "" "01695" "{PMID:Schindler 2010:20647261}" "" "?" "?" "United States" "" "0" "" "" "Iowa" ""
"00076662" "" "" "" "1" "" "01695" "{PMID:Schindler 2010:20647261}" "" "?" "?" "United States" "" "0" "" "" "Iowa" ""
"00076663" "" "" "" "1" "" "01695" "{PMID:Schindler 2010:20647261}" "" "?" "?" "United States" "" "0" "" "" "Iowa" ""
"00076664" "" "" "" "1" "" "01695" "{PMID:Schindler 2010:20647261}" "" "?" "?" "United States" "" "0" "" "" "Iowa" ""
"00076665" "" "" "" "1" "" "01695" "{PMID:Schindler 2010:20647261}" "" "?" "?" "United States" "" "0" "" "" "Iowa" ""
"00076666" "" "" "" "1" "" "01695" "{PMID:Schindler 2010:20647261}" "" "?" "?" "United States" "" "0" "" "" "Iowa" ""
"00076667" "" "" "" "1" "" "01695" "{PMID:Schindler 2010:20647261}" "" "?" "?" "United States" "" "0" "" "" "Iowa" ""
"00076668" "" "" "" "1" "" "01695" "{PMID:Schindler 2010:20647261}" "" "?" "?" "United States" "" "0" "" "" "Iowa" ""
"00076669" "" "" "" "1" "" "01695" "{PMID:Schindler 2010:20647261}" "" "?" "?" "United States" "" "0" "" "" "Iowa" ""
"00076670" "" "" "" "1" "" "01695" "{PMID:Schindler 2010:20647261}" "" "?" "?" "United States" "" "0" "" "" "Iowa" ""
"00076671" "" "" "" "1" "" "01695" "{PMID:Schindler 2010:20647261}" "" "?" "?" "United States" "" "0" "" "" "Iowa" ""
"00076672" "" "" "" "1" "" "01695" "{PMID:Schindler 2010:20647261}" "" "?" "?" "United States" "" "0" "" "" "Iowa" ""
"00076673" "" "" "" "1" "" "01695" "{PMID:Schindler 2010:20647261}" "" "?" "?" "United States" "" "0" "" "" "Iowa" ""
"00076674" "" "" "" "1" "" "01695" "{PMID:Schindler 2010:20647261}" "" "?" "?" "United States" "" "0" "" "" "Iowa" ""
"00076675" "" "" "" "1" "" "01695" "{PMID:Schindler 2010:20647261}" "" "?" "?" "United States" "" "0" "" "" "Iowa" ""
"00076676" "" "" "" "1" "" "01695" "{PMID:Schindler 2010:20647261}" "" "?" "?" "United States" "" "0" "" "" "Iowa" ""
"00076677" "" "" "" "1" "" "01695" "{PMID:Schindler 2010:20647261}" "" "?" "?" "United States" "" "0" "" "" "Iowa" ""
"00076678" "" "" "" "1" "" "01695" "{PMID:Schindler 2010:20647261}" "" "?" "?" "United States" "" "0" "" "" "Iowa" ""
"00076679" "" "" "" "1" "" "01695" "{PMID:Schindler 2010:20647261}" "" "?" "?" "United States" "" "0" "" "" "Iowa" ""
"00076680" "" "" "" "1" "" "01695" "{PMID:Schindler 2010:20647261}" "" "?" "?" "United States" "" "0" "" "" "Iowa" ""
"00076681" "" "" "" "1" "" "01695" "{PMID:Schindler 2010:20647261}" "" "?" "?" "United States" "" "0" "" "" "Iowa" ""
"00076682" "" "" "" "1" "" "01695" "{PMID:Schindler 2010:20647261}" "" "?" "?" "United States" "" "0" "" "" "Iowa" ""
"00076683" "" "" "" "1" "" "01695" "{PMID:Schindler 2010:20647261}" "" "?" "?" "United States" "" "0" "" "" "Iowa" ""
"00076684" "" "" "" "1" "" "01695" "{PMID:Schindler 2010:20647261}" "" "?" "?" "United States" "" "0" "" "" "Iowa" ""
"00076685" "" "" "" "1" "" "01695" "{PMID:Schindler 2010:20647261}" "" "?" "?" "United States" "" "0" "" "" "Iowa" ""
"00076686" "" "" "" "1" "" "01695" "{PMID:Schindler 2010:20647261}" "" "?" "?" "United States" "" "0" "" "" "Iowa" ""
"00076687" "" "" "" "1" "" "01695" "{PMID:Schindler 2010:20647261}" "" "?" "?" "United States" "" "0" "" "" "Iowa" ""
"00076688" "" "" "" "1" "" "01695" "{PMID:Schindler 2010:20647261}" "" "?" "?" "United States" "" "0" "" "" "Iowa" ""
"00076689" "" "" "" "1" "" "01695" "{PMID:Schindler 2010:20647261}" "" "?" "?" "United States" "" "0" "" "" "Iowa" ""
"00076690" "" "" "" "1" "" "01695" "{PMID:Schindler 2010:20647261}" "" "?" "?" "United States" "" "0" "" "" "Iowa" ""
"00076691" "" "" "" "1" "" "01695" "{PMID:Schindler 2010:20647261}" "" "?" "?" "United States" "" "0" "" "" "Iowa" ""
"00076692" "" "" "" "1" "" "01695" "{PMID:Schindler 2010:20647261}" "" "?" "?" "United States" "" "0" "" "" "Iowa" ""
"00076693" "" "" "" "1" "" "01695" "{PMID:Schindler 2010:20647261}" "" "?" "?" "United States" "" "0" "" "" "Iowa" ""
"00076694" "" "" "" "1" "" "01695" "{PMID:Schindler 2010:20647261}" "" "?" "?" "United States" "" "0" "" "" "Iowa" ""
"00076695" "" "" "" "1" "" "01695" "{PMID:Schindler 2010:20647261}" "" "?" "?" "United States" "" "0" "" "" "Iowa" ""
"00076696" "" "" "" "1" "" "01695" "{PMID:Schindler 2010:20647261}" "" "?" "?" "United States" "" "0" "" "" "Iowa" ""
"00076697" "" "" "" "1" "" "01695" "{PMID:Schindler 2010:20647261}" "" "?" "?" "United States" "" "0" "" "" "Iowa" ""
"00076698" "" "" "" "1" "" "01695" "{PMID:Schindler 2010:20647261}" "" "?" "?" "United States" "" "0" "" "" "Iowa" ""
"00076699" "" "" "" "1" "" "01695" "{PMID:Schindler 2010:20647261}" "" "?" "?" "United States" "" "0" "" "" "Iowa" ""
"00076700" "" "" "" "1" "" "01695" "{PMID:Schindler 2010:20647261}" "" "?" "?" "United States" "" "0" "" "" "Iowa" ""
"00076701" "" "" "" "1" "" "01695" "{PMID:Schindler 2010:20647261}" "" "?" "?" "United States" "" "0" "" "" "Iowa" ""
"00076702" "" "" "" "1" "" "01695" "{PMID:Schindler 2010:20647261}" "" "?" "?" "United States" "" "0" "" "" "Iowa" ""
"00076703" "" "" "" "1" "" "01695" "{PMID:Schindler 2010:20647261}" "" "?" "?" "United States" "" "0" "" "" "Iowa" ""
"00076704" "" "" "" "1" "" "01695" "{PMID:Schindler 2010:20647261}" "" "?" "?" "United States" "" "0" "" "" "Iowa" ""
"00076705" "" "" "" "1" "" "01695" "{PMID:Schindler 2010:20647261}" "" "?" "?" "United States" "" "0" "" "" "Iowa" ""
"00076706" "" "" "" "1" "" "01695" "{PMID:Schindler 2010:20647261}" "" "?" "?" "United States" "" "0" "" "" "Iowa" ""
"00076707" "" "" "" "1" "" "01695" "{PMID:Schindler 2010:20647261}" "" "?" "?" "United States" "" "0" "" "" "Iowa" ""
"00076708" "" "" "" "1" "" "01695" "{PMID:Schindler 2010:20647261}" "" "?" "?" "United States" "" "0" "" "" "Iowa" ""
"00076709" "" "" "" "1" "" "01695" "{PMID:Schindler 2010:20647261}" "" "?" "?" "United States" "" "0" "" "" "Iowa" ""
"00076710" "" "" "" "1" "" "01695" "{PMID:Schindler 2010:20647261}" "" "?" "?" "United States" "" "0" "" "" "Iowa" ""
"00076711" "" "" "" "1" "" "01695" "{PMID:Schindler 2010:20647261}" "" "?" "?" "United States" "" "0" "" "" "Iowa" ""
"00076712" "" "" "" "1" "" "01695" "{PMID:Schindler 2010:20647261}" "" "?" "?" "United States" "" "0" "" "" "Iowa" ""
"00076713" "" "" "" "1" "" "01695" "{PMID:Schindler 2010:20647261}" "" "?" "?" "United States" "" "0" "" "" "Iowa" ""
"00076714" "" "" "" "1" "" "01695" "{PMID:Schindler 2010:20647261}" "" "?" "?" "United States" "" "0" "" "" "Iowa" ""
"00076715" "" "" "" "1" "" "01695" "{PMID:Schindler 2010:20647261}" "" "?" "?" "United States" "" "0" "" "" "Iowa" ""
"00076716" "" "" "" "1" "" "01695" "{PMID:Schindler 2010:20647261}" "" "?" "?" "United States" "" "0" "" "" "Iowa" ""
"00076717" "" "" "" "1" "" "01695" "{PMID:Schindler 2010:20647261}" "" "?" "?" "United States" "" "0" "" "" "Iowa" ""
"00076718" "" "" "" "1" "" "01695" "{PMID:Schindler 2010:20647261}" "" "?" "?" "United States" "" "0" "" "" "Iowa" ""
"00076719" "" "" "" "1" "" "01695" "{PMID:Schindler 2010:20647261}" "" "?" "?" "United States" "" "0" "" "" "Iowa" ""
"00076720" "" "" "" "1" "" "01695" "{PMID:Schindler 2010:20647261}" "" "?" "?" "United States" "" "0" "" "" "Iowa" ""
"00076721" "" "" "" "1" "" "01695" "{PMID:Schindler 2010:20647261}" "" "?" "?" "United States" "" "0" "" "" "Iowa" ""
"00076722" "" "" "" "1" "" "01695" "{PMID:Schindler 2010:20647261}" "" "?" "?" "United States" "" "0" "" "" "Iowa" ""
"00076723" "" "" "" "1" "" "01695" "{PMID:Schindler 2010:20647261}" "" "?" "?" "United States" "" "0" "" "" "Iowa" ""
"00076724" "" "" "" "1" "" "01695" "{PMID:Schindler 2010:20647261}" "" "?" "?" "United States" "" "0" "" "" "Iowa" ""
"00076725" "" "" "" "1" "" "01695" "{PMID:Schindler 2010:20647261}" "" "?" "?" "United States" "" "0" "" "" "Iowa" ""
"00076726" "" "" "" "1" "" "01695" "{PMID:Schindler 2010:20647261}" "" "?" "?" "United States" "" "0" "" "" "Iowa" ""
"00076727" "" "" "" "1" "" "01695" "{PMID:Schindler 2010:20647261}" "" "?" "?" "United States" "" "0" "" "" "Iowa" ""
"00076728" "" "" "" "1" "" "01695" "{PMID:Schindler 2010:20647261}" "" "?" "?" "United States" "" "0" "" "" "Iowa" ""
"00076729" "" "" "" "1" "" "01695" "{PMID:Schindler 2010:20647261}" "" "?" "?" "United States" "" "0" "" "" "Iowa" ""
"00076730" "" "" "" "1" "" "01695" "{PMID:Schindler 2010:20647261}" "" "?" "?" "United States" "" "0" "" "" "Iowa" ""
"00076731" "" "" "" "1" "" "01695" "{PMID:Schindler 2010:20647261}" "" "?" "?" "United States" "" "0" "" "" "Iowa" ""
"00076732" "" "" "" "1" "" "01695" "{PMID:Schindler 2010:20647261}" "" "?" "?" "United States" "" "0" "" "" "Iowa" ""
"00076733" "" "" "" "1" "" "01695" "{PMID:Schindler 2010:20647261}" "" "?" "?" "United States" "" "0" "" "" "Iowa" ""
"00076734" "" "" "" "1" "" "01695" "{PMID:Schindler 2010:20647261}" "" "?" "?" "United States" "" "0" "" "" "Iowa" ""
"00076735" "" "" "" "1" "" "01695" "{PMID:Schindler 2010:20647261}" "" "?" "?" "United States" "" "0" "" "" "Iowa" ""
"00076736" "" "" "" "1" "" "01695" "{PMID:Schindler 2010:20647261}" "" "?" "?" "United States" "" "0" "" "" "Iowa" ""
"00076737" "" "" "" "1" "" "01695" "{PMID:Schindler 2010:20647261}" "" "?" "?" "United States" "" "0" "" "" "Iowa" ""
"00076738" "" "" "" "1" "" "01695" "{PMID:Schindler 2010:20647261}" "" "?" "?" "United States" "" "0" "" "" "Iowa" ""
"00076739" "" "" "" "1" "" "01695" "{PMID:Schindler 2010:20647261}" "" "?" "?" "United States" "" "0" "" "" "Iowa" ""
"00076740" "" "" "" "1" "" "01695" "{PMID:Schindler 2010:20647261}" "" "?" "?" "United States" "" "0" "" "" "Iowa" ""
"00076741" "" "" "" "1" "" "01695" "{PMID:Schindler 2010:20647261}" "" "?" "?" "United States" "" "0" "" "" "Iowa" ""
"00076742" "" "" "" "1" "" "01695" "{PMID:Schindler 2010:20647261}" "" "?" "?" "United States" "" "0" "" "" "Iowa" ""
"00076743" "" "" "" "1" "" "01695" "{PMID:Schindler 2010:20647261}" "" "?" "?" "United States" "" "0" "" "" "Iowa" ""
"00076744" "" "" "" "1" "" "01695" "{PMID:Schindler 2010:20647261}" "" "?" "?" "United States" "" "0" "" "" "Iowa" ""
"00076745" "" "" "" "1" "" "01695" "{PMID:Schindler 2010:20647261}" "" "?" "?" "United States" "" "0" "" "" "Iowa" ""
"00076746" "" "" "" "1" "" "01695" "{PMID:Schindler 2010:20647261}" "" "?" "?" "United States" "" "0" "" "" "Iowa" ""
"00076747" "" "" "" "1" "" "01695" "{PMID:Schindler 2010:20647261}" "" "?" "?" "United States" "" "0" "" "" "Iowa" ""
"00076748" "" "" "" "1" "" "01695" "{PMID:Schindler 2010:20647261}" "" "?" "?" "United States" "" "0" "" "" "Iowa" ""
"00076749" "" "" "" "1" "" "01695" "{PMID:Schindler 2010:20647261}" "" "?" "?" "United States" "" "0" "" "" "Iowa" ""
"00076750" "" "" "" "1" "" "01695" "{PMID:Schindler 2010:20647261}" "" "?" "?" "United States" "" "0" "" "" "Iowa" ""
"00076751" "" "" "" "1" "" "01695" "{PMID:Schindler 2010:20647261}" "" "?" "?" "United States" "" "0" "" "" "Iowa" ""
"00076752" "" "" "" "1" "" "01695" "{PMID:Schindler 2010:20647261}" "" "?" "?" "United States" "" "0" "" "" "Iowa" ""
"00076753" "" "" "" "1" "" "01695" "{PMID:Schindler 2010:20647261}" "" "?" "?" "United States" "" "0" "" "" "Iowa" ""
"00076754" "" "" "" "1" "" "01695" "{PMID:Schindler 2010:20647261}" "" "?" "?" "United States" "" "0" "" "" "Iowa" ""
"00076755" "" "" "" "1" "" "01695" "{PMID:Schindler 2010:20647261}" "" "?" "?" "United States" "" "0" "" "" "Iowa" ""
"00076756" "" "" "" "1" "" "01695" "{PMID:Schindler 2010:20647261}" "" "?" "?" "United States" "" "0" "" "" "Iowa" ""
"00076757" "" "" "" "1" "" "01695" "{PMID:Schindler 2010:20647261}" "" "?" "?" "United States" "" "0" "" "" "Iowa" ""
"00076758" "" "" "" "1" "" "01695" "{PMID:Schindler 2010:20647261}" "" "?" "?" "United States" "" "0" "" "" "Iowa" ""
"00076759" "" "" "" "1" "" "01695" "{PMID:Burke 2010:20696155}, {PMID:Burke 2012:22661473}, {PMID:Burke 2014:24677105}" "" "M" "?" "" "" "0" "" "" "white" ""
"00076760" "" "" "" "1" "" "01695" "{PMID:Burke 2010:20696155}, {PMID:Burke 2014:24677105}, {PMID:Nõupuu 2014:25301883}" "" "F" "?" "" "" "0" "" "" "?" ""
"00076761" "" "" "" "1" "" "01695" "{PMID:Burke 2010:20696155}" "" "M" "?" "" "" "0" "" "" "?" ""
"00076762" "" "" "" "1" "" "01695" "{PMID:Burke 2010:20696155}" "" "M" "?" "" "" "0" "" "" "?" ""
"00076763" "" "" "" "1" "" "01695" "{PMID:Burke 2010:20696155}" "" "F" "?" "" "" "0" "" "" "?" ""
"00076764" "" "" "" "1" "" "01695" "{PMID:Burke 2010:20696155}" "" "F" "?" "" "" "0" "" "" "?" ""
"00076765" "" "" "" "1" "" "01695" "{PMID:Burke 2010:20696155}" "" "F" "?" "" "" "0" "" "" "?" ""
"00076766" "" "" "" "1" "" "01695" "{PMID:Burke 2010:20696155}" "" "F" "?" "" "" "0" "" "" "?" ""
"00076767" "" "" "" "1" "" "01695" "{PMID:Burke 2010:20696155}" "" "F" "?" "" "" "0" "" "" "?" ""
"00076768" "" "" "" "1" "" "01695" "{PMID:Burke 2010:20696155}" "" "F" "?" "" "" "0" "" "" "?" ""
"00076769" "" "" "" "1" "" "01695" "{PMID:Burke 2010:20696155}" "" "M" "?" "" "" "0" "" "" "?" ""
"00076770" "" "" "" "1" "" "01695" "{PMID:Burke 2010:20696155}" "" "F" "?" "" "" "0" "" "" "?" ""
"00076771" "" "" "" "1" "" "01695" "{PMID:Burke 2010:20696155}, {PMID:Nõupuu 2014:25301883}" "" "F" "?" "" "" "0" "" "" "?" ""
"00076772" "" "" "" "1" "" "01695" "{PMID:Burke 2010:20696155}" "" "F" "?" "" "" "0" "" "" "?" ""
"00076773" "" "" "" "1" "" "01695" "{PMID:Burke 2010:20696155}" "" "M" "?" "" "" "0" "" "" "?" ""
"00076774" "" "" "" "1" "" "01695" "{PMID:Burke 2010:20696155}" "" "F" "?" "" "" "0" "" "" "?" ""
"00076775" "" "" "" "1" "" "01695" "{PMID:Burke 2010:20696155}" "" "M" "?" "" "" "0" "" "" "?" ""
"00076776" "" "" "" "1" "" "01695" "{PMID:Burke 2010:20696155}" "" "F" "?" "" "" "0" "" "" "?" ""
"00076777" "" "" "" "1" "" "01695" "{PMID:Burke 2010:20696155}" "" "F" "?" "" "" "0" "" "" "?" ""
"00076778" "" "" "" "1" "" "01695" "{PMID:Burke 2010:20696155}" "" "F" "?" "" "" "0" "" "" "?" ""
"00076779" "" "" "" "1" "" "01695" "{PMID:Burke 2010:20696155}" "" "M" "?" "" "" "0" "" "" "?" ""
"00076780" "" "" "" "1" "" "01695" "{PMID:Burke 2010:20696155}" "" "F" "?" "" "" "0" "" "" "?" ""
"00076781" "" "" "" "1" "" "01695" "{PMID:Burke 2010:20696155}" "" "M" "?" "" "" "0" "" "" "?" ""
"00076782" "" "" "" "1" "" "01695" "{PMID:Burke 2010:20696155}, {PMID:Duncker 2015:26551331}" "" "F" "?" "" "" "0" "" "" "white" ""
"00076783" "" "" "" "1" "" "01695" "{PMID:Burke 2010:20696155}" "" "M" "?" "" "" "0" "" "" "?" ""
"00076784" "" "" "" "1" "" "01695" "{PMID:Burke 2010:20696155}" "" "F" "?" "" "" "0" "" "" "?" ""
"00076785" "" "" "" "1" "" "01695" "{PMID:Burke 2010:20696155}" "" "M" "?" "" "" "0" "" "" "?" ""
"00076786" "" "" "" "1" "" "01695" "{PMID:Burke 2010:20696155}" "" "M" "?" "" "" "0" "" "" "?" ""
"00076787" "" "" "" "1" "" "01695" "{PMID:Burke 2010:20696155}" "" "M" "?" "" "" "0" "" "" "?" ""
"00076788" "" "" "" "1" "" "01695" "{PMID:Burke 2010:20696155}" "" "F" "?" "" "" "0" "" "" "?" ""
"00076789" "" "" "" "1" "" "01695" "{PMID:Burke 2010:20696155}" "" "M" "?" "" "" "0" "" "" "?" ""
"00076790" "" "" "" "1" "" "01695" "{PMID:Burke 2010:20696155}" "" "M" "?" "" "" "0" "" "" "?" ""
"00076791" "" "" "" "1" "" "01695" "{PMID:Chen 2011:21296825}" "" "M" "?" "" "" "0" "" "" "?" ""
"00076792" "" "" "" "1" "" "01695" "{PMID:Chen 2011:21296825}" "" "M" "?" "" "" "0" "" "" "?" ""
"00076793" "" "" "" "1" "" "01695" "{PMID:Chen 2011:21296825}" "" "F" "?" "" "" "0" "" "" "?" ""
"00076794" "" "" "" "1" "" "01695" "{PMID:Chen 2011:21296825}" "" "M" "?" "" "" "0" "" "" "?" ""
"00076795" "" "" "" "1" "" "01695" "{PMID:Chen 2011:21296825}" "" "M" "?" "" "" "0" "" "" "?" ""
"00076796" "" "" "" "1" "" "01695" "{PMID:Chen 2011:21296825}" "" "F" "?" "" "" "0" "" "" "?" ""
"00076797" "" "" "" "1" "" "01695" "{PMID:Chen 2011:21296825}" "" "F" "?" "" "" "0" "" "" "?" ""
"00076798" "" "" "" "1" "" "01695" "{PMID:Chen 2011:21296825}" "" "M" "?" "" "" "0" "" "" "?" ""
"00076799" "" "" "" "1" "" "01695" "{PMID:Chen 2011:21296825}" "" "M" "?" "" "" "0" "" "" "?" ""
"00076800" "" "" "" "1" "" "01695" "{PMID:Chen 2011:21296825}" "" "F" "?" "" "" "0" "" "" "?" ""
"00076801" "" "" "" "1" "" "01695" "{PMID:Chen 2011:21296825}" "" "M" "?" "" "" "0" "" "" "?" ""
"00076802" "" "" "" "1" "" "01695" "{PMID:Zernant 2011:21911583}" "" "?" "?" "" "" "0" "" "" "?" ""
"00076803" "" "" "" "1" "" "01695" "{PMID:Zernant 2011:21911583}" "" "?" "?" "" "" "0" "" "" "?" ""
"00076804" "" "" "" "1" "" "01695" "{PMID:Zernant 2011:21911583}" "" "?" "?" "" "" "0" "" "" "?" ""
"00076805" "" "" "" "1" "" "01695" "{PMID:Zernant 2011:21911583}" "" "?" "?" "" "" "0" "" "" "?" ""
"00076806" "" "" "" "1" "" "01695" "{PMID:Zernant 2011:21911583}" "" "?" "?" "" "" "0" "" "" "?" ""
"00076807" "" "" "" "1" "" "01695" "{PMID:Zernant 2011:21911583}" "" "?" "?" "" "" "0" "" "" "?" ""
"00076808" "" "" "" "1" "" "01695" "{PMID:Zernant 2011:21911583}" "" "?" "?" "" "" "0" "" "" "?" ""
"00076809" "" "" "" "1" "" "01695" "{PMID:Zernant 2011:21911583}" "" "?" "?" "" "" "0" "" "" "?" ""
"00076810" "" "" "" "1" "" "01695" "{PMID:Zernant 2011:21911583}, {PMID:Duncker 2015:26551331}" "" "M" "?" "" "" "0" "" "" "Asian" ""
"00076811" "" "" "" "1" "" "01695" "{PMID:Zernant 2011:21911583}" "c.1745A>G, p.(Asn582Ser) was also identified in this patient" "?" "?" "" "" "0" "" "" "?" ""
"00076812" "" "" "" "1" "" "01695" "{PMID:Zernant 2011:21911583}" "" "?" "?" "" "" "0" "" "" "?" ""
"00076813" "" "" "" "1" "" "01695" "{PMID:Zernant 2011:21911583}, {PMID:Burke 2014:24677105}" "" "F" "?" "" "" "0" "" "" "?" ""
"00076814" "" "" "" "1" "" "01695" "{PMID:Zernant 2011:21911583}" "" "?" "?" "" "" "0" "" "" "?" ""
"00076815" "" "" "" "1" "" "01695" "{PMID:Zernant 2011:21911583}" "" "?" "?" "" "" "0" "" "" "?" ""
"00076816" "" "" "" "1" "" "01695" "{PMID:Zernant 2011:21911583}" "" "?" "?" "" "" "0" "" "" "?" ""
"00076817" "" "" "" "1" "" "01695" "{PMID:Zernant 2011:21911583}" "2-generation family, 1 affected" "M" "?" "" "" "0" "" "" "?" ""
"00076818" "" "" "" "1" "" "01695" "{PMID:Zernant 2011:21911583}" "" "?" "?" "" "" "0" "" "" "?" ""
"00076819" "" "" "" "1" "" "01695" "{PMID:Zernant 2011:21911583}" "" "?" "?" "" "" "0" "" "" "?" ""
"00076820" "" "" "" "1" "" "01695" "{PMID:Zernant 2011:21911583}" "" "?" "?" "" "" "0" "" "" "?" ""
"00076821" "" "" "" "1" "" "01695" "{PMID:Zernant 2011:21911583}" "2-generation family, 2 affected" "M" "?" "" "" "0" "" "" "?" ""
"00076822" "" "" "" "1" "" "01695" "{PMID:Zernant 2011:21911583}" "" "?" "?" "" "" "0" "" "" "?" ""
"00076823" "" "" "" "1" "" "01695" "{PMID:Zernant 2011:21911583}" "" "?" "?" "" "" "0" "" "" "?" ""
"00076824" "" "" "" "1" "" "01695" "{PMID:Zernant 2011:21911583}" "" "?" "?" "" "" "0" "" "" "?" ""
"00076825" "" "" "" "1" "" "01695" "{PMID:Zernant 2011:21911583}" "" "?" "?" "" "" "0" "" "" "?" ""
"00076826" "" "" "" "1" "" "01695" "{PMID:Zernant 2011:21911583}" "" "?" "?" "" "" "0" "" "" "?" ""
"00076827" "" "" "" "1" "" "01695" "{PMID:Zernant 2011:21911583}" "" "?" "?" "" "" "0" "" "" "?" ""
"00076828" "" "" "" "1" "" "01695" "{PMID:Zernant 2011:21911583}" "" "?" "?" "" "" "0" "" "" "?" ""
"00076829" "" "" "" "1" "" "01695" "{PMID:Zernant 2011:21911583}" "" "?" "?" "" "" "0" "" "" "?" ""
"00076830" "" "" "" "1" "" "01695" "{PMID:Zernant 2011:21911583}" "" "?" "?" "" "" "0" "" "" "?" ""
"00076831" "" "" "" "1" "" "01695" "{PMID:Zernant 2011:21911583}" "" "?" "?" "" "" "0" "" "" "?" ""
"00076832" "" "" "" "1" "" "01695" "{PMID:Zernant 2011:21911583}" "" "?" "?" "" "" "0" "" "" "?" ""
"00076833" "" "" "" "1" "" "01695" "{PMID:Zernant 2011:21911583}, {PMID:Duncker 2015:26024099}" "" "F" "?" "" "" "0" "" "" "White" ""
"00076834" "" "" "" "1" "" "01695" "{PMID:Zernant 2011:21911583}" "" "?" "?" "" "" "0" "" "" "?" ""
"00076835" "" "" "" "1" "" "01695" "{PMID:Zernant 2011:21911583}" "" "?" "?" "" "" "0" "" "" "?" ""
"00076836" "" "" "" "1" "" "01695" "{PMID:Zernant 2011:21911583}" "" "?" "?" "" "" "0" "" "" "?" ""
"00076837" "" "" "" "1" "" "01695" "{PMID:Zernant 2011:21911583}" "" "?" "?" "" "" "0" "" "" "?" ""
"00076838" "" "" "" "1" "" "01695" "{PMID:Zernant 2011:21911583}" "" "?" "?" "" "" "0" "" "" "?" ""
"00076839" "" "" "" "1" "" "01695" "{PMID:Zernant 2011:21911583}" "" "?" "?" "" "" "0" "" "" "?" ""
"00076840" "" "" "" "1" "" "01695" "{PMID:Zernant 2011:21911583}" "" "?" "?" "" "" "0" "" "" "?" ""
"00076841" "" "" "" "1" "" "01695" "{PMID:Zernant 2011:21911583}" "" "?" "?" "" "" "0" "" "" "?" ""
"00076842" "" "" "" "1" "" "01695" "{PMID:Zernant 2011:21911583}" "" "?" "?" "" "" "0" "" "" "?" ""
"00076843" "" "" "" "1" "" "01695" "{PMID:Zernant 2011:21911583}" "" "?" "?" "" "" "0" "" "" "?" ""
"00076844" "" "" "" "1" "" "01695" "{PMID:Zernant 2011:21911583}" "" "?" "?" "" "" "0" "" "" "?" ""
"00076845" "" "" "" "1" "" "01695" "{PMID:Zernant 2011:21911583}" "" "?" "?" "" "" "0" "" "" "?" ""
"00076846" "" "" "" "1" "" "01695" "{PMID:Zernant 2011:21911583}" "2-generation family, 2 affected" "M" "?" "" "" "0" "" "" "?" ""
"00076847" "" "" "" "1" "" "01695" "{PMID:Zernant 2011:21911583}" "2-generation family, 2 affected" "M" "?" "" "" "0" "" "" "?" ""
"00076848" "" "" "" "1" "" "01695" "{PMID:Zernant 2011:21911583}" "" "?" "?" "" "" "0" "" "" "?" ""
"00076849" "" "" "" "1" "" "01695" "{PMID:Zernant 2011:21911583}" "" "?" "?" "" "" "0" "" "" "?" ""
"00076850" "" "" "" "1" "" "01695" "{PMID:Zernant 2011:21911583}" "" "?" "?" "" "" "0" "" "" "?" ""
"00076851" "" "" "" "1" "" "01695" "{PMID:Zernant 2011:21911583}" "" "?" "?" "" "" "0" "" "" "?" ""
"00076852" "" "" "" "1" "" "01695" "{PMID:Zernant 2011:21911583}" "" "?" "?" "" "" "0" "" "" "?" ""
"00076853" "" "" "" "1" "" "01695" "{PMID:Zernant 2011:21911583}" "" "?" "?" "" "" "0" "" "" "?" ""
"00076854" "" "" "" "1" "" "01695" "{PMID:Zernant 2011:21911583}" "" "?" "?" "" "" "0" "" "" "?" ""
"00076855" "" "" "" "1" "" "01695" "{PMID:Zernant 2011:21911583}" "" "?" "?" "" "" "0" "" "" "?" ""
"00076856" "" "" "" "1" "" "01695" "{PMID:Zernant 2011:21911583}" "" "?" "?" "" "" "0" "" "" "?" ""
"00076857" "" "" "" "1" "" "01695" "{PMID:Zernant 2011:21911583}" "" "?" "?" "" "" "0" "" "" "?" ""
"00076858" "" "" "" "1" "" "01695" "{PMID:Zernant 2011:21911583}" "" "?" "?" "" "" "0" "" "" "?" ""
"00076859" "" "" "" "1" "" "01695" "{PMID:Zernant 2011:21911583}" "" "?" "?" "" "" "0" "" "" "?" ""
"00076860" "" "" "" "1" "" "01695" "{PMID:Zernant 2011:21911583}" "" "?" "?" "" "" "0" "" "" "?" ""
"00076861" "" "" "" "1" "" "01695" "{PMID:Zernant 2011:21911583}" "" "?" "?" "" "" "0" "" "" "?" ""
"00076862" "" "" "" "1" "" "01695" "{PMID:Zernant 2011:21911583}" "" "?" "?" "" "" "0" "" "" "?" ""
"00076863" "" "" "" "1" "" "01695" "{PMID:Zernant 2011:21911583}" "" "?" "?" "" "" "0" "" "" "?" ""
"00076864" "" "" "" "1" "" "01695" "{PMID:Zernant 2011:21911583}" "" "?" "?" "" "" "0" "" "" "?" ""
"00076865" "" "" "" "1" "" "01695" "{PMID:Zernant 2011:21911583}" "" "?" "?" "" "" "0" "" "" "?" ""
"00076866" "" "" "" "1" "" "01695" "{PMID:Zernant 2011:21911583}" "" "?" "?" "" "" "0" "" "" "?" ""
"00076867" "" "" "" "1" "" "01695" "{PMID:Zernant 2011:21911583}" "" "?" "?" "" "" "0" "" "" "?" ""
"00076868" "" "" "" "1" "" "01695" "{PMID:Zernant 2011:21911583}" "" "?" "?" "" "" "0" "" "" "?" ""
"00076869" "" "" "" "1" "" "01695" "{PMID:Zernant 2011:21911583}" "" "?" "?" "" "" "0" "" "" "?" ""
"00076870" "" "" "" "1" "" "01695" "{PMID:Zernant 2011:21911583}" "" "?" "?" "" "" "0" "" "" "?" ""
"00076871" "" "" "" "1" "" "01695" "{PMID:Zernant 2011:21911583}" "" "?" "?" "" "" "0" "" "" "?" ""
"00076872" "" "" "" "1" "" "01695" "{PMID:Zernant 2011:21911583}" "" "?" "?" "" "" "0" "" "" "?" ""
"00076873" "" "" "" "1" "" "01695" "{PMID:Zernant 2011:21911583}" "" "?" "?" "" "" "0" "" "" "?" ""
"00076874" "" "" "" "1" "" "01695" "{PMID:Zernant 2011:21911583}" "" "?" "?" "" "" "0" "" "" "?" ""
"00076875" "" "" "" "1" "" "01695" "{PMID:Zernant 2011:21911583}" "" "?" "?" "" "" "0" "" "" "?" ""
"00076876" "" "" "" "1" "" "01695" "{PMID:Zernant 2011:21911583}" "" "?" "?" "" "" "0" "" "" "?" ""
"00076877" "" "" "" "1" "" "01695" "{PMID:Zernant 2011:21911583}" "" "?" "?" "" "" "0" "" "" "?" ""
"00076878" "" "" "" "1" "" "01695" "{PMID:Zernant 2011:21911583}" "" "?" "?" "" "" "0" "" "" "?" ""
"00076879" "" "" "" "1" "" "01695" "{PMID:Zernant 2011:21911583}" "" "?" "?" "" "" "0" "" "" "?" ""
"00076880" "" "" "" "1" "" "01695" "{PMID:Zernant 2011:21911583}" "" "?" "?" "" "" "0" "" "" "?" ""
"00076881" "" "" "" "1" "" "01695" "{PMID:Zernant 2011:21911583}" "" "?" "?" "" "" "0" "" "" "?" ""
"00076882" "" "" "" "1" "" "01695" "{PMID:Zernant 2011:21911583}" "" "?" "?" "" "" "0" "" "" "?" ""
"00076883" "" "" "" "1" "" "01695" "{PMID:Zernant 2011:21911583}" "" "?" "?" "" "" "0" "" "" "?" ""
"00076884" "" "" "" "1" "" "01695" "{PMID:Zernant 2011:21911583}" "" "?" "?" "" "" "0" "" "" "?" ""
"00076885" "" "" "" "1" "" "01695" "{PMID:Zernant 2011:21911583}" "" "?" "?" "" "" "0" "" "" "?" ""
"00076886" "" "" "" "1" "" "01695" "{PMID:Zernant 2011:21911583}" "" "?" "?" "" "" "0" "" "" "?" ""
"00076887" "" "" "" "1" "" "01695" "{PMID:Zernant 2011:21911583}" "" "?" "?" "" "" "0" "" "" "?" ""
"00076888" "" "" "" "1" "" "01695" "{PMID:Zernant 2011:21911583}" "" "?" "?" "" "" "0" "" "" "?" ""
"00076889" "" "" "" "1" "" "01695" "{PMID:Zernant 2011:21911583}" "" "?" "?" "" "" "0" "" "" "?" ""
"00076890" "" "" "" "1" "" "01695" "{PMID:Zernant 2011:21911583}" "" "?" "?" "" "" "0" "" "" "?" ""
"00076891" "" "" "" "1" "" "01695" "{PMID:Zernant 2011:21911583}" "" "?" "?" "" "" "0" "" "" "?" ""
"00076892" "" "" "" "1" "" "01695" "{PMID:Zernant 2011:21911583}" "" "?" "?" "" "" "0" "" "" "?" ""
"00076893" "" "" "" "1" "" "01695" "{PMID:Zernant 2011:21911583}" "" "?" "?" "" "" "0" "" "" "?" ""
"00076894" "" "" "" "1" "" "01695" "{PMID:Zernant 2011:21911583}" "" "?" "?" "" "" "0" "" "" "?" ""
"00076895" "" "" "" "1" "" "01695" "{PMID:Zernant 2011:21911583}" "" "?" "?" "" "" "0" "" "" "?" ""
"00076896" "" "" "" "1" "" "01695" "{PMID:Zernant 2011:21911583}" "" "?" "?" "" "" "0" "" "" "?" ""
"00076897" "" "" "" "1" "" "01695" "{PMID:Zernant 2011:21911583}" "" "?" "?" "" "" "0" "" "" "?" ""
"00076898" "" "" "" "1" "" "01695" "{PMID:Zernant 2011:21911583}" "" "?" "?" "" "" "0" "" "" "?" ""
"00076899" "" "" "" "1" "" "01695" "{PMID:Zernant 2011:21911583}" "" "?" "?" "" "" "0" "" "" "?" ""
"00076900" "" "" "" "1" "" "01695" "{PMID:Zernant 2011:21911583}" "" "?" "?" "" "" "0" "" "" "?" ""
"00076901" "" "" "" "1" "" "01695" "{PMID:Zernant 2011:21911583}" "" "?" "?" "" "" "0" "" "" "?" ""
"00076902" "" "" "" "1" "" "01695" "{PMID:Zernant 2011:21911583}" "" "?" "?" "" "" "0" "" "" "?" ""
"00076903" "" "" "" "1" "" "01695" "{PMID:Zernant 2011:21911583}" "" "?" "?" "" "" "0" "" "" "?" ""
"00076904" "" "" "" "1" "" "01695" "{PMID:Zernant 2011:21911583}" "" "?" "?" "" "" "0" "" "" "?" ""
"00076905" "" "" "" "1" "" "01695" "{PMID:Zernant 2011:21911583}" "" "?" "?" "" "" "0" "" "" "?" ""
"00076906" "" "" "" "1" "" "01695" "{PMID:Zernant 2011:21911583}" "" "?" "?" "" "" "0" "" "" "?" ""
"00076907" "" "" "" "1" "" "01695" "{PMID:Zernant 2011:21911583}" "" "?" "?" "" "" "0" "" "" "?" ""
"00076908" "" "" "" "1" "" "01695" "{PMID:Zernant 2011:21911583}" "" "?" "?" "" "" "0" "" "" "?" ""
"00076909" "" "" "" "1" "" "01695" "{PMID:Zernant 2011:21911583}" "" "?" "?" "" "" "0" "" "" "?" ""
"00076910" "" "" "" "1" "" "01695" "{PMID:Zernant 2011:21911583}" "" "?" "?" "" "" "0" "" "" "?" ""
"00076911" "" "" "" "1" "" "01695" "{PMID:Zernant 2011:21911583}" "" "?" "?" "" "" "0" "" "" "?" ""
"00076912" "" "" "" "1" "" "01695" "{PMID:Zernant 2011:21911583}" "" "?" "?" "" "" "0" "" "" "?" ""
"00076913" "" "" "" "1" "" "01695" "{PMID:Zernant 2011:21911583}" "" "?" "?" "" "" "0" "" "" "?" ""
"00076914" "" "" "" "1" "" "01695" "{PMID:Zernant 2011:21911583}" "" "?" "?" "" "" "0" "" "" "?" ""
"00076915" "" "" "" "1" "" "01695" "{PMID:Zernant 2011:21911583}" "" "?" "?" "" "" "0" "" "" "?" ""
"00076916" "" "" "" "1" "" "01695" "{PMID:Zernant 2011:21911583}" "" "?" "?" "" "" "0" "" "" "?" ""
"00076917" "" "" "" "1" "" "01695" "{PMID:Zernant 2011:21911583}" "" "?" "?" "" "" "0" "" "" "?" ""
"00076918" "" "" "" "1" "" "01695" "{PMID:Zernant 2011:21911583}" "" "?" "?" "" "" "0" "" "" "?" ""
"00076919" "" "" "" "1" "" "01695" "{PMID:Zernant 2011:21911583}" "" "?" "?" "" "" "0" "" "" "?" ""
"00076920" "" "" "" "1" "" "01695" "{PMID:Zernant 2011:21911583}" "" "?" "?" "" "" "0" "" "" "?" ""
"00076921" "" "" "" "1" "" "01695" "{PMID:Zernant 2011:21911583}" "" "?" "?" "" "" "0" "" "" "?" ""
"00076922" "" "" "" "1" "" "01695" "{PMID:Zernant 2011:21911583}" "" "?" "?" "" "" "0" "" "" "?" ""
"00076923" "" "" "" "1" "" "01695" "{PMID:Zernant 2011:21911583}" "" "?" "?" "" "" "0" "" "" "?" ""
"00076924" "" "" "" "1" "" "01695" "{PMID:Zernant 2011:21911583}" "" "?" "?" "" "" "0" "" "" "?" ""
"00076925" "" "" "" "1" "" "01695" "{PMID:Zernant 2011:21911583}" "" "?" "?" "" "" "0" "" "" "?" ""
"00076926" "" "" "" "1" "" "01695" "{PMID:Zernant 2011:21911583}" "" "?" "?" "" "" "0" "" "" "?" ""
"00076927" "" "" "" "1" "" "01695" "{PMID:Zernant 2011:21911583}" "" "?" "?" "" "" "0" "" "" "?" ""
"00076928" "" "" "" "1" "" "01695" "{PMID:Duno 2012:22229821}" "" "?" "?" "Denmark" "" "0" "" "" "Scandinavian" ""
"00076929" "" "" "" "1" "" "01695" "{PMID:Duno 2012:22229821}" "c.1654G>A, p.(Val552Ile) was also identified in this patient" "?" "?" "Denmark" "" "0" "" "" "Scandinavian" ""
"00076930" "" "" "" "1" "" "01695" "{PMID:Duno 2012:22229821}" "" "?" "?" "Denmark" "" "0" "" "" "Scandinavian" ""
"00076931" "" "" "" "1" "" "01695" "{PMID:Duno 2012:22229821}" "" "?" "?" "Denmark" "" "0" "" "" "Scandinavian" ""
"00076932" "" "" "" "1" "" "01695" "{PMID:Duno 2012:22229821}" "" "?" "?" "Denmark" "" "0" "" "" "Scandinavian" ""
"00076933" "" "" "" "1" "" "01695" "{PMID:Duno 2012:22229821}" "" "?" "?" "Denmark" "" "0" "" "" "Scandinavian" ""
"00076934" "" "" "" "1" "" "01695" "{PMID:Duno 2012:22229821}" "" "?" "?" "Denmark" "" "0" "" "" "Scandinavian" ""
"00076935" "" "" "" "1" "" "01695" "{PMID:Duno 2012:22229821}" "" "?" "?" "Denmark" "" "0" "" "" "Scandinavian" ""
"00076936" "" "" "" "1" "" "01695" "{PMID:Duno 2012:22229821}" "" "?" "?" "Denmark" "" "0" "" "" "Scandinavian" ""
"00076937" "" "" "" "1" "" "01695" "{PMID:Duno 2012:22229821}" "" "?" "?" "Denmark" "" "0" "" "" "Scandinavian" ""
"00076938" "" "" "" "1" "" "01695" "{PMID:Duno 2012:22229821}" "" "?" "?" "Denmark" "" "0" "" "" "Scandinavian" ""
"00076939" "" "" "" "1" "" "01695" "{PMID:Duno 2012:22229821}" "" "?" "?" "Denmark" "" "0" "" "" "Scandinavian" ""
"00076940" "" "" "" "1" "" "01695" "{PMID:Duno 2012:22229821}" "" "?" "?" "Denmark" "" "0" "" "" "Scandinavian" ""
"00076941" "" "" "" "1" "" "01695" "{PMID:Duno 2012:22229821}" "" "?" "?" "Denmark" "" "0" "" "" "Scandinavian" ""
"00076942" "" "" "" "1" "" "01695" "{PMID:Duno 2012:22229821}" "" "?" "?" "Denmark" "" "0" "" "" "Scandinavian" ""
"00076943" "" "" "" "1" "" "01695" "{PMID:Duno 2012:22229821}" "" "?" "?" "Denmark" "" "0" "" "" "Scandinavian" ""
"00076944" "" "" "" "1" "" "01695" "{PMID:Duno 2012:22229821}" "" "?" "?" "Denmark" "" "0" "" "" "Scandinavian" ""
"00076945" "" "" "" "1" "" "01695" "{PMID:Duno 2012:22229821}" "" "?" "?" "Denmark" "" "0" "" "" "Scandinavian" ""
"00076946" "" "" "" "1" "" "01695" "{PMID:Duno 2012:22229821}" "" "?" "?" "Denmark" "" "0" "" "" "Scandinavian" ""
"00076947" "" "" "" "1" "" "01695" "{PMID:Duno 2012:22229821}" "" "?" "?" "Denmark" "" "0" "" "" "Scandinavian" ""
"00076948" "" "" "" "1" "" "01695" "{PMID:Duno 2012:22229821}" "" "?" "?" "Denmark" "" "0" "" "" "Scandinavian" ""
"00076949" "" "" "" "1" "" "01695" "{PMID:Duno 2012:22229821}" "" "?" "?" "Denmark" "" "0" "" "" "Scandinavian" ""
"00076950" "" "" "" "1" "" "01695" "{PMID:Duno 2012:22229821}" "" "?" "?" "Denmark" "" "0" "" "" "Scandinavian" ""
"00076951" "" "" "" "1" "" "01695" "{PMID:Duno 2012:22229821}" "" "?" "?" "Denmark" "" "0" "" "" "Scandinavian" ""
"00076952" "" "" "" "1" "" "01695" "{PMID:Duno 2012:22229821}" "" "?" "?" "Denmark" "" "0" "" "" "Scandinavian" ""
"00076953" "" "" "" "1" "" "01695" "{PMID:Duno 2012:22229821}" "" "?" "?" "Denmark" "" "0" "" "" "Scandinavian" ""
"00076954" "" "" "" "1" "" "01695" "{PMID:Duno 2012:22229821}" "" "?" "?" "Denmark" "" "0" "" "" "Scandinavian" ""
"00076955" "" "" "" "1" "" "01695" "{PMID:Duno 2012:22229821}" "" "?" "?" "Denmark" "" "0" "" "" "Scandinavian" ""
"00076956" "" "" "" "1" "" "01695" "{PMID:Duno 2012:22229821}" "" "?" "?" "Denmark" "" "0" "" "" "Scandinavian" ""
"00076957" "" "" "" "1" "" "01695" "{PMID:Duno 2012:22229821}" "" "?" "?" "Denmark" "" "0" "" "" "Scandinavian" ""
"00076958" "" "" "" "1" "" "01695" "{PMID:Duno 2012:22229821}" "" "?" "?" "Denmark" "" "0" "" "" "Scandinavian" ""
"00076959" "" "" "" "1" "" "01695" "{PMID:Duno 2012:22229821}" "" "?" "?" "Denmark" "" "0" "" "" "Scandinavian" ""
"00076960" "" "" "" "1" "" "01695" "{PMID:Duno 2012:22229821}" "" "?" "?" "Denmark" "" "0" "" "" "Scandinavian" ""
"00076961" "" "" "" "1" "" "01695" "{PMID:Duno 2012:22229821}" "" "?" "?" "Denmark" "" "0" "" "" "Scandinavian" ""
"00076962" "" "" "" "1" "" "01695" "{PMID:Duno 2012:22229821}" "" "?" "?" "Denmark" "" "0" "" "" "Scandinavian" ""
"00076963" "" "" "" "1" "" "01695" "{PMID:Duno 2012:22229821}" "" "?" "?" "Denmark" "" "0" "" "" "Scandinavian" ""
"00076964" "" "" "" "1" "" "01695" "{PMID:Duno 2012:22229821}" "" "?" "?" "Denmark" "" "0" "" "" "Scandinavian" ""
"00076965" "" "" "" "1" "" "01695" "{PMID:Duno 2012:22229821}" "" "?" "?" "Denmark" "" "0" "" "" "Scandinavian" ""
"00076966" "" "" "" "1" "" "01695" "{PMID:Duno 2012:22229821}" "" "?" "?" "Denmark" "" "0" "" "" "Scandinavian" ""
"00076967" "" "" "" "1" "" "01695" "{PMID:Burke 2012:22312191}" "4-generation family, 4 affected" "M" "yes" "" "" "0" "" "" "?" ""
"00076968" "" "" "" "1" "" "01695" "{PMID:Burke 2012:22312191}" "4-generation family, 4 affected" "F" "yes" "" "" "0" "" "" "?" ""
"00076969" "" "" "" "1" "" "01695" "{PMID:Burke 2012:22312191}" "4-generation family, 4 affected" "M" "yes" "" "" "0" "" "" "?" ""
"00076970" "" "" "" "1" "" "01695" "{PMID:Burke 2012:22312191}" "4-generation family, 4 affected" "F" "yes" "" "" "0" "" "" "?" ""
"00076971" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00076972" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00076973" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00076974" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00076975" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00076976" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00076977" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00076978" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00076979" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00076980" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00076981" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00076982" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00076983" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00076984" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00076985" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00076986" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00076987" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00076988" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00076989" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00076990" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00076991" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00076992" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00076993" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00076994" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00076995" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00076996" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00076997" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00076998" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00076999" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00077000" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00077001" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00077002" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00077003" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00077004" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00077005" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00077006" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00077007" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00077008" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00077009" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00077010" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00077011" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00077012" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00077013" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00077014" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00077015" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00077016" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00077017" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00077018" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00077019" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00077020" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00077021" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00077022" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00077023" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00077024" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00077025" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00077026" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00077027" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00077028" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00077029" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00077030" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00077031" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00077032" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00077033" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00077034" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00077035" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00077036" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00077037" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00077038" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00077039" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00077040" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00077041" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00077042" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00077043" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00077044" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00077045" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00077046" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00077047" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00077048" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00077049" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00077050" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00077051" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00077052" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00077053" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00077054" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00077055" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00077056" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00077057" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00077058" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00077059" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00077060" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00077061" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00077062" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00077063" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00077064" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00077065" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00077066" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00077067" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00077068" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00077069" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00077070" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00077071" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00077072" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00077073" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00077074" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00077075" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00077076" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00077077" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00077078" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00077079" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00077080" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00077081" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00077082" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00077083" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00077084" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00077085" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00077086" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00077087" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00077088" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00077089" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00077090" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00077091" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00077092" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00077093" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00077094" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00077095" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00077096" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00077097" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00077098" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00077099" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00077100" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00077101" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00077102" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00077103" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00077104" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00077105" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00077106" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00077107" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00077108" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00077109" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00077110" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00077111" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00077112" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00077113" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00077114" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00077115" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00077116" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00077117" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00077118" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00077119" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00077120" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00077121" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00077122" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00077123" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00077124" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00077125" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00077126" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00077127" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00077128" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00077129" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00077130" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00077131" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00077132" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00077133" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00077134" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00077135" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00077136" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00077137" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00077138" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00077139" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00077140" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00077141" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00077142" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00077143" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00077144" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00077145" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00077146" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00077147" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00077148" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00077149" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00077150" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00077151" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00077152" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00077153" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00077154" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00077155" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00077156" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00077157" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00077158" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00077159" "" "" "" "1" "" "01695" "{PMID:Roberts 2012:22328824}" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy; variants described separately, additional variant may be present; 9 homozygote, 90 presumed compound heterozygotes (41 verified biallelic, family studies)" "?" "?" "South Africa" "" "0" "" "" "In this cohort: 84% white, 9% African, 4% Indian, 3% mixed ancestry" ""
"00077160" "" "" "" "1" "" "01695" "{PMID:Maia-Lopes 2008:18326749}" "Not the patients themselves, but a first relative was genotyped. The expectation is that the patient has at least this mutation as well." "M" "?" "" "" "0" "" "" "?" ""
"00077161" "" "" "" "1" "" "01695" "{PMID:Maia-Lopes 2008:18326749}" "Not the patients themselves, but a first relative was genotyped. The expectation is that the patient has at least this mutation as well." "M" "?" "" "" "0" "" "" "?" ""
"00077162" "" "" "" "1" "" "01695" "{PMID:Maia-Lopes 2008:18326749}" "Not the patients themselves, but a first relative was genotyped. The expectation is that the patient has at least this mutation as well." "M" "?" "" "" "0" "" "" "?" ""
"00077163" "" "" "" "1" "" "01695" "{PMID:Maia-Lopes 2008:18326749}" "Not the patients themselves, but a first relative was genotyped. The expectation is that the patient has at least this mutation as well." "M" "?" "" "" "0" "" "" "?" ""
"00077164" "" "" "" "1" "" "01695" "{PMID:Maia-Lopes 2008:18326749}" "Not the patients themselves, but a first relative was genotyped. The expectation is that the patient has at least this mutation as well." "M" "?" "" "" "0" "" "" "?" ""
"00077165" "" "" "" "1" "" "01695" "{PMID:Maia-Lopes 2008:18326749}" "Not the patients themselves, but a first relative was genotyped. The expectation is that the patient has at least this mutation as well." "F" "?" "" "" "0" "" "" "?" ""
"00077166" "" "" "" "1" "" "01695" "{PMID:Maia-Lopes 2008:18326749}" "Not the patients themselves, but a first relative was genotyped. The expectation is that the patient has at least this mutation as well." "F" "?" "" "" "0" "" "" "?" ""
"00077167" "" "" "" "1" "" "01695" "{PMID:Maia-Lopes 2008:18326749}" "Not the patients themselves, but a first relative was genotyped. The expectation is that the patient has at least this mutation as well." "M" "?" "" "" "0" "" "" "?" ""
"00077168" "" "" "" "1" "" "01695" "{PMID:Maia-Lopes 2008:18326749}" "Not the patients themselves, but a first relative was genotyped. The expectation is that the patient has at least this mutation as well." "M" "?" "" "" "0" "" "" "?" ""
"00077169" "" "" "" "1" "" "01695" "{PMID:Maia-Lopes 2008:18326749}" "Not the patients themselves, but a first relative was genotyped. The expectation is that the patient has at least this mutation as well." "M" "?" "" "" "0" "" "" "?" ""
"00077170" "" "" "" "1" "" "01695" "{PMID:Maia-Lopes 2008:18326749}" "Not the patients themselves, but a first relative was genotyped. The expectation is that the patient has at least this mutation as well." "M" "?" "" "" "0" "" "" "?" ""
"00077171" "" "" "" "1" "" "01695" "{PMID:Maia-Lopes 2008:18326749}" "Not the patients themselves, but a first relative was genotyped. The expectation is that the patient has at least this mutation as well." "M" "?" "" "" "0" "" "" "?" ""
"00077172" "" "" "" "1" "" "01695" "{PMID:Maia-Lopes 2008:18326749}" "Not the patients themselves, but a first relative was genotyped. The expectation is that the patient has at least this mutation as well." "M" "?" "" "" "0" "" "" "?" ""
"00077173" "" "" "" "1" "" "01695" "{PMID:Maia-Lopes 2008:18326749}" "Not the patients themselves, but a first relative was genotyped. The expectation is that the patient has at least this mutation as well." "M" "?" "" "" "0" "" "" "?" ""
"00077174" "" "" "" "1" "" "01695" "{PMID:Westeneng-van Haaften 2012:22449572}" "Pseudo dominant" "F" "?" "" "" "0" "" "" "?" ""
"00077175" "" "" "" "1" "" "01695" "{PMID:Westeneng-van Haaften 2012:22449572}, {PMID:van Huet 2014:25324290}" "" "M" "?" "Netherlands" "" "0" "" "" "?" ""
"00077176" "" "" "" "1" "" "01695" "{PMID:Westeneng-van Haaften 2012:22449572}" "" "F" "?" "" "" "0" "" "" "?" ""
"00077177" "" "" "" "1" "" "01695" "{PMID:Westeneng-van Haaften 2012:22449572}, {PMID:van Huet 2014:25324290}" "" "M" "?" "Netherlands" "" "0" "" "" "?" ""
"00077178" "" "" "" "1" "" "01695" "{PMID:Westeneng-van Haaften 2012:22449572}, {PMID:van Huet 2014:25324290}" "" "F" "?" "Netherlands" "" "0" "" "" "?" ""
"00077179" "" "" "" "1" "" "01695" "{PMID:Westeneng-van Haaften 2012:22449572}" "" "F" "?" "" "" "0" "" "" "?" ""
"00077180" "" "" "" "1" "" "01695" "{PMID:Westeneng-van Haaften 2012:22449572}" "" "F" "?" "" "" "0" "" "" "?" ""
"00077181" "" "" "" "1" "" "01695" "{PMID:Westeneng-van Haaften 2012:22449572}, {PMID:van Huet 2014:25324290}" "" "M" "?" "Netherlands" "" "0" "" "" "?" ""
"00077182" "" "" "" "1" "" "01695" "{PMID:Westeneng-van Haaften 2012:22449572}" "Pseudo dominant" "F" "?" "" "" "0" "" "" "?" ""
"00077183" "" "" "" "1" "" "01695" "{PMID:Westeneng-van Haaften 2012:22449572}" "" "M" "?" "" "" "0" "" "" "?" ""
"00077184" "" "" "" "1" "" "01695" "{PMID:Westeneng-van Haaften 2012:22449572}, {PMID:van Huet 2014:25324290}" "" "M" "?" "Netherlands" "" "0" "" "" "?" ""
"00077185" "" "" "" "1" "" "01695" "{PMID:Westeneng-van Haaften 2012:22449572}" "" "F" "?" "" "" "0" "" "" "?" ""
"00077186" "" "" "" "1" "" "01695" "{PMID:Westeneng-van Haaften 2012:22449572}, {PMID:van Huet 2014:25324290}" "" "M" "?" "Netherlands" "" "0" "" "" "?" ""
"00077187" "" "" "" "1" "" "01695" "{PMID:Westeneng-van Haaften 2012:22449572}" "" "F" "?" "" "" "0" "" "" "?" ""
"00077188" "" "" "" "1" "" "01695" "{PMID:Westeneng-van Haaften 2012:22449572}" "" "F" "?" "" "" "0" "" "" "?" ""
"00077189" "" "" "" "1" "" "01695" "{PMID:Westeneng-van Haaften 2012:22449572}" "" "F" "?" "" "" "0" "" "" "?" ""
"00077190" "" "" "" "1" "" "01695" "{PMID:Westeneng-van Haaften 2012:22449572}" "" "F" "?" "" "" "0" "" "" "?" ""
"00077191" "" "" "" "1" "" "01695" "{PMID:Westeneng-van Haaften 2012:22449572}" "" "M" "?" "" "" "0" "" "" "?" ""
"00077192" "" "" "" "1" "" "01695" "{PMID:Westeneng-van Haaften 2012:22449572}, {PMID:van Huet 2014:25324290}" "" "F" "?" "Netherlands" "" "0" "" "" "?" ""
"00077193" "" "" "" "1" "" "01695" "{PMID:Westeneng-van Haaften 2012:22449572}" "" "F" "?" "" "" "0" "" "" "?" ""
"00077194" "" "" "" "1" "" "01695" "{PMID:Westeneng-van Haaften 2012:22449572}" "" "M" "?" "" "" "0" "" "" "?" ""
"00077195" "" "" "" "1" "" "01695" "{PMID:Westeneng-van Haaften 2012:22449572}" "" "F" "?" "" "" "0" "" "" "?" ""
"00077196" "" "" "" "1" "" "01695" "{PMID:Westeneng-van Haaften 2012:22449572}, {PMID:van Huet 2014:25324290}" "" "F" "?" "Netherlands" "" "0" "" "" "?" ""
"00077197" "" "" "" "1" "" "01695" "{PMID:Testa 2012:22661472}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077198" "" "" "" "1" "" "01695" "{PMID:Testa 2012:22661472}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077199" "" "" "" "1" "" "01695" "{PMID:Testa 2012:22661472}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077200" "" "" "" "1" "" "01695" "{PMID:Testa 2012:22661472}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077201" "" "" "" "1" "" "01695" "{PMID:Testa 2012:22661472}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077202" "" "" "" "1" "" "01695" "{PMID:Testa 2012:22661472}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077203" "" "" "" "1" "" "01695" "{PMID:Testa 2012:22661472}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077204" "" "" "" "1" "" "01695" "{PMID:Testa 2012:22661472}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077205" "" "" "" "1" "" "01695" "{PMID:Testa 2012:22661472}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077206" "" "" "" "1" "" "01695" "{PMID:Testa 2012:22661472}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077207" "" "" "" "1" "" "01695" "{PMID:Testa 2012:22661472}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077208" "" "" "" "1" "" "01695" "{PMID:Testa 2012:22661472}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077209" "" "" "" "1" "" "01695" "{PMID:Testa 2012:22661472}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077210" "" "" "" "1" "" "01695" "{PMID:Testa 2012:22661472}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077211" "" "" "" "1" "" "01695" "{PMID:Testa 2012:22661472}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077212" "" "" "" "1" "" "01695" "{PMID:Testa 2012:22661472}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077213" "" "" "" "1" "" "01695" "{PMID:Testa 2012:22661472}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077214" "" "" "" "1" "" "01695" "{PMID:Testa 2012:22661472}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077215" "" "" "" "1" "" "01695" "{PMID:Testa 2012:22661472}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077216" "" "" "" "1" "" "01695" "{PMID:Testa 2012:22661472}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077217" "" "" "" "1" "" "01695" "{PMID:Testa 2012:22661472}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077218" "" "" "" "1" "" "01695" "{PMID:Testa 2012:22661472}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077219" "" "" "" "1" "" "01695" "{PMID:Testa 2012:22661472}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077220" "" "" "" "1" "" "01695" "{PMID:Testa 2012:22661472}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077221" "" "" "" "1" "" "01695" "{PMID:Testa 2012:22661472}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077222" "" "" "" "1" "" "01695" "{PMID:Testa 2012:22661472}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077223" "" "" "" "1" "" "01695" "{PMID:Testa 2012:22661472}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077224" "" "" "" "1" "" "01695" "{PMID:Testa 2012:22661472}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077225" "" "" "" "1" "" "01695" "{PMID:Testa 2012:22661472}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077226" "" "" "" "1" "" "01695" "{PMID:Testa 2012:22661472}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077227" "" "" "" "1" "" "01695" "{PMID:Testa 2012:22661472}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077228" "" "" "" "1" "" "01695" "{PMID:Testa 2012:22661472}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077229" "" "" "" "1" "" "01695" "{PMID:Testa 2012:22661472}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077230" "" "" "" "1" "" "01695" "{PMID:Testa 2012:22661472}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077231" "" "" "" "1" "" "01695" "{PMID:Testa 2012:22661472}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077232" "" "" "" "1" "" "01695" "{PMID:Testa 2012:22661472}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077233" "" "" "" "1" "" "01695" "{PMID:Testa 2012:22661472}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077234" "" "" "" "1" "" "01695" "{PMID:Testa 2012:22661472}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077235" "" "" "" "1" "" "01695" "{PMID:Testa 2012:22661472}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077236" "" "" "" "1" "" "01695" "{PMID:Testa 2012:22661472}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077237" "" "" "" "1" "" "01695" "{PMID:Testa 2012:22661472}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077238" "" "" "" "1" "" "01695" "{PMID:Testa 2012:22661472}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077239" "" "" "" "1" "" "01695" "{PMID:Testa 2012:22661472}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077240" "" "" "" "1" "" "01695" "{PMID:Testa 2012:22661472}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077241" "" "" "" "1" "" "01695" "{PMID:Testa 2012:22661472}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077242" "" "" "" "1" "" "01695" "{PMID:Testa 2012:22661472}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077243" "" "" "" "1" "" "01695" "{PMID:Testa 2012:22661472}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077244" "" "" "" "1" "" "01695" "{PMID:Testa 2012:22661472}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077245" "" "" "" "1" "" "01695" "{PMID:Testa 2012:22661472}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077246" "" "" "" "1" "" "01695" "{PMID:Testa 2012:22661472}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077247" "" "" "" "1" "" "01695" "{PMID:Testa 2012:22661472}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077248" "" "" "" "1" "" "01695" "{PMID:Testa 2012:22661472}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077249" "" "" "" "1" "" "01695" "{PMID:Burke 2012:22661473}" "" "F" "?" "" "" "0" "" "" "white" ""
"00077250" "" "" "" "1" "" "01695" "{PMID:Burke 2012:22661473}" "" "M" "?" "" "" "0" "" "" "white" ""
"00077251" "" "" "" "1" "" "01695" "{PMID:Burke 2012:22661473}" "" "F" "?" "" "" "0" "" "" "white" ""
"00077252" "" "" "" "1" "" "01695" "{PMID:Burke 2012:22661473}" "" "F" "?" "" "" "0" "" "" "white" ""
"00077253" "" "" "" "1" "" "01695" "{PMID:Burke 2012:22661473}" "" "F" "?" "" "" "0" "" "" "white" ""
"00077254" "" "" "" "1" "" "01695" "{PMID:Burke 2012:22661473}" "" "M" "yes" "Jordan" "" "0" "" "" "?" ""
"00077255" "" "" "" "1" "" "01695" "{PMID:Burke 2012:22661473}" "" "F" "yes" "Jordan" "" "0" "" "" "?" ""
"00077256" "" "" "" "1" "" "01695" "{PMID:Burke 2012:22661473}" "" "F" "?" "Italy" "" "0" "" "" "white" ""
"00077257" "" "" "" "1" "" "01695" "{PMID:Burke 2012:22661473}" "" "M" "?" "Italy" "" "0" "" "" "white" ""
"00077258" "" "" "" "1" "" "01695" "{PMID:Burke 2012:22661473}" "" "F" "?" "Italy" "" "0" "" "" "white" ""
"00077259" "" "" "" "1" "" "01695" "{PMID:Burke 2012:22661473}" "" "M" "?" "" "" "0" "" "" "Somali descent" ""
"00077260" "" "" "" "1" "" "01695" "{PMID:Strom 2012:22863181}" "" "M" "?" "" "" "0" "" "" "?" ""
"00077261" "" "" "" "1" "" "01695" "{PMID:Strom 2012:22863181}" "" "F" "?" "" "" "0" "" "" "?" ""
"00077262" "" "" "" "1" "" "01695" "{PMID:Strom 2012:22863181}" "" "F" "?" "" "" "0" "" "" "?" ""
"00077263" "" "" "" "1" "" "01695" "{PMID:Oldani 2012:23096905}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077264" "" "" "" "1" "" "01695" "{PMID:Oldani 2012:23096905}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077265" "" "" "" "1" "" "01695" "{PMID:Oldani 2012:23096905}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077266" "" "" "" "1" "" "01695" "{PMID:Oldani 2012:23096905}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077267" "" "" "" "1" "" "01695" "{PMID:Oldani 2012:23096905}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077268" "" "" "" "1" "" "01695" "{PMID:Oldani 2012:23096905}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077269" "" "" "" "1" "" "01695" "{PMID:Oldani 2012:23096905}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077270" "" "" "" "1" "" "01695" "{PMID:Oldani 2012:23096905}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077271" "" "" "" "1" "" "01695" "{PMID:Oldani 2012:23096905}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077272" "" "" "" "1" "" "01695" "{PMID:Oldani 2012:23096905}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077273" "" "" "" "1" "" "01695" "{PMID:Oldani 2012:23096905}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077274" "" "" "" "1" "" "01695" "{PMID:Oldani 2012:23096905}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077275" "" "" "" "1" "" "01695" "{PMID:Downes 2012:23143460}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077276" "" "" "" "1" "" "01695" "{PMID:Downes 2012:23143460}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077277" "" "" "" "1" "" "01695" "{PMID:Downes 2012:23143460}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077278" "" "" "" "1" "" "01695" "{PMID:Downes 2012:23143460}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077279" "" "" "" "1" "" "01695" "{PMID:Downes 2012:23143460}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077280" "" "" "" "1" "" "01695" "{PMID:Downes 2012:23143460}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077281" "" "" "" "1" "" "01695" "{PMID:Downes 2012:23143460}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077282" "" "" "" "1" "" "01695" "{PMID:Downes 2012:23143460}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077283" "" "" "" "1" "" "01695" "{PMID:Downes 2012:23143460}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077284" "" "" "" "1" "" "01695" "{PMID:Downes 2012:23143460}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077285" "" "" "" "1" "" "01695" "{PMID:Downes 2012:23143460}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077286" "" "" "" "1" "" "01695" "{PMID:Downes 2012:23143460}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077287" "" "" "" "1" "" "01695" "{PMID:Downes 2012:23143460}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077288" "" "" "" "1" "" "01695" "{PMID:Downes 2012:23143460}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077289" "" "" "" "1" "" "01695" "{PMID:Downes 2012:23143460}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077290" "" "" "" "1" "" "01695" "{PMID:Downes 2012:23143460}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077291" "" "" "" "1" "" "01695" "{PMID:Downes 2012:23143460}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077292" "" "" "" "1" "" "01695" "{PMID:Downes 2012:23143460}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077293" "" "" "" "1" "" "01695" "{PMID:Downes 2012:23143460}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077294" "" "" "" "1" "" "01695" "{PMID:Downes 2012:23143460}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077295" "" "" "" "1" "" "01695" "{PMID:Downes 2012:23143460}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077296" "" "" "" "1" "" "01695" "{PMID:Downes 2012:23143460}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077297" "" "" "" "1" "" "01695" "{PMID:Downes 2012:23143460}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077298" "" "" "" "1" "" "01695" "{PMID:Downes 2012:23143460}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077299" "" "" "" "1" "" "01695" "{PMID:Downes 2012:23143460}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077300" "" "" "" "1" "" "01695" "{PMID:Downes 2012:23143460}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077301" "" "" "" "1" "" "01695" "{PMID:Downes 2012:23143460}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077302" "" "" "" "1" "" "01695" "{PMID:Downes 2012:23143460}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077303" "" "" "" "1" "" "01695" "{PMID:Downes 2012:23143460}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077304" "" "" "" "1" "" "01695" "{PMID:Downes 2012:23143460}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077305" "" "" "" "1" "" "01695" "{PMID:Downes 2012:23143460}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077306" "" "" "" "1" "" "01695" "{PMID:Downes 2012:23143460}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077307" "" "" "" "1" "" "01695" "{PMID:Downes 2012:23143460}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077308" "" "" "" "1" "" "01695" "{PMID:Downes 2012:23143460}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077309" "" "" "" "1" "" "01695" "{PMID:Downes 2012:23143460}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077310" "" "" "" "1" "" "01695" "{PMID:Downes 2012:23143460}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077311" "" "" "" "1" "" "01695" "{PMID:Downes 2012:23143460}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077312" "" "" "" "1" "" "01695" "{PMID:Downes 2012:23143460}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077313" "" "" "" "1" "" "01695" "{PMID:Downes 2012:23143460}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077314" "" "" "" "1" "" "01695" "{PMID:Downes 2012:23143460}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077315" "" "" "" "1" "" "01695" "{PMID:Downes 2012:23143460}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077316" "" "" "" "1" "" "01695" "{PMID:Downes 2012:23143460}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077317" "" "" "" "1" "" "01695" "{PMID:Downes 2012:23143460}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077318" "" "" "" "1" "" "01695" "{PMID:Downes 2012:23143460}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077319" "" "" "" "1" "" "01695" "{PMID:Downes 2012:23143460}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077320" "" "" "" "1" "" "01695" "{PMID:Downes 2012:23143460}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077321" "" "" "" "1" "" "01695" "{PMID:Downes 2012:23143460}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077322" "" "" "" "1" "" "01695" "{PMID:Downes 2012:23143460}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077323" "" "" "" "1" "" "01695" "{PMID:Downes 2012:23143460}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077324" "" "" "" "1" "" "01695" "{PMID:Downes 2012:23143460}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077325" "" "" "" "1" "" "01695" "{PMID:Downes 2012:23143460}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077326" "" "" "" "1" "" "01695" "{PMID:Downes 2012:23143460}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077327" "" "" "" "1" "" "01695" "{PMID:Downes 2012:23143460}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077328" "" "" "" "1" "" "01695" "{PMID:Downes 2012:23143460}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077329" "" "" "" "1" "" "01695" "{PMID:Downes 2012:23143460}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077330" "" "" "" "1" "" "01695" "{PMID:Downes 2012:23143460}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077331" "" "" "" "1" "" "01695" "{PMID:Rossi 2012:23341817}" "" "F" "?" "Italy" "" "0" "" "" "?" ""
"00077332" "" "" "" "1" "" "01695" "{PMID:Rossi 2012:23341817}" "" "M" "?" "Italy" "" "0" "" "" "?" ""
"00077333" "" "" "" "1" "" "01695" "{PMID:Rossi 2012:23341817}" "" "F" "?" "Italy" "" "0" "" "" "?" ""
"00077334" "" "" "" "1" "" "01695" "{PMID:Jonsson 2013:23443024}" "Also c.4203C>A was identified" "M" "yes" "Sweden" "" "0" "" "" "Jämtland" ""
"00077335" "" "" "" "1" "" "01695" "{PMID:Jonsson 2013:23443024}" "" "F" "yes" "Sweden" "" "0" "" "" "Jämtland" ""
"00077336" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23499370}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077337" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23499370}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077338" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23499370}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077339" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23499370}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077340" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23499370}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077341" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23499370}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077342" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23499370}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077343" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23499370}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077344" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23499370}, {PMID:Fujinami 2013:23982839}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077345" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23499370}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077346" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23499370}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077347" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23499370}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077348" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23499370}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077349" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23499370}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077350" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23499370}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077351" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23499370}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077352" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23499370}" "The putative benign p.Ile156Val variant was also found at this allele." "?" "?" "" "" "0" "" "" "?" ""
"00077353" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23499370}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077354" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23499370}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077355" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23499370}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077356" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23499370}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077357" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23499370}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077358" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23499370}, {PMID:Fujinami 2013:23982839}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077359" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23499370}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077360" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23499370}" "The probably benign p.Arg943Gln variant was also found on this allele." "?" "?" "" "" "0" "" "" "?" ""
"00077361" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23499370}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077362" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23499370}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077363" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23499370}, {PMID:Fujinami 2013:23982839}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077364" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23499370}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077365" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23499370}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077366" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23499370}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077367" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23499370}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077368" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23499370}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077369" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23499370}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077370" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23499370}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077371" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23499370}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077372" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23499370}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077373" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23499370}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077374" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23499370}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077375" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23499370}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077376" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23499370}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077377" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23499370}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077378" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23499370}, {PMID:Fujinami 2013:23982839}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077379" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23499370}, {PMID:Fujinami 2013:23982839}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077380" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23499370}, {PMID:Michaelides 2007:18024811}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077381" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23499370}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077382" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23499370}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077383" "" "" "" "1" "" "01695" "{PMID:Chacón-Camacho 2013:23419329}" "" "?" "?" "Mexico" "" "0" "" "" "?" ""
"00077384" "" "" "" "1" "" "01695" "{PMID:Chacón-Camacho 2013:23419329}" "" "?" "?" "Mexico" "" "0" "" "" "?" ""
"00077385" "" "" "" "1" "" "01695" "{PMID:Chacón-Camacho 2013:23419329}" "" "?" "?" "Mexico" "" "0" "" "" "?" ""
"00077386" "" "" "" "1" "" "01695" "{PMID:Chacón-Camacho 2013:23419329}" "" "?" "?" "Mexico" "" "0" "" "" "?" ""
"00077387" "" "" "" "1" "" "01695" "{PMID:Chacón-Camacho 2013:23419329}" "" "?" "?" "Mexico" "" "0" "" "" "?" ""
"00077388" "" "" "" "1" "" "01695" "{PMID:Chacón-Camacho 2013:23419329}" "" "?" "?" "Mexico" "" "0" "" "" "?" ""
"00077389" "" "" "" "1" "" "01695" "{PMID:Chacón-Camacho 2013:23419329}" "" "?" "?" "Mexico" "" "0" "" "" "?" ""
"00077390" "" "" "" "1" "" "01695" "{PMID:Chacón-Camacho 2013:23419329}" "" "?" "?" "Mexico" "" "0" "" "" "?" ""
"00077391" "" "" "" "1" "" "01695" "{PMID:Chacón-Camacho 2013:23419329}" "" "?" "?" "Mexico" "" "0" "" "" "?" ""
"00077392" "" "" "" "1" "" "01695" "{PMID:Chacón-Camacho 2013:23419329}" "" "?" "?" "Mexico" "" "0" "" "" "?" ""
"00077393" "" "" "" "1" "" "01695" "{PMID:Chacón-Camacho 2013:23419329}" "" "?" "?" "Mexico" "" "0" "" "" "?" ""
"00077394" "" "" "" "1" "" "01695" "{PMID:Chacón-Camacho 2013:23419329}" "" "" "?" "Mexico" "" "0" "" "" "?" ""
"00077395" "" "" "" "1" "" "01695" "{PMID:Chacón-Camacho 2013:23419329}" "" "" "?" "Mexico" "" "0" "" "" "?" ""
"00077396" "" "" "" "1" "" "01695" "{PMID:Chacón-Camacho 2013:23419329}" "" "-" "?" "Mexico" "" "0" "" "" "?" ""
"00077397" "" "" "" "1" "" "01695" "{PMID:Chacón-Camacho 2013:23419329}" "" "?" "?" "Mexico" "" "0" "" "" "?" ""
"00077398" "" "" "" "1" "" "01695" "{PMID:Chacón-Camacho 2013:23419329}" "" "?" "?" "Mexico" "" "0" "" "" "?" ""
"00077399" "" "" "" "1" "" "01695" "{PMID:Chacón-Camacho 2013:23419329}" "" "?" "?" "Mexico" "" "0" "" "" "?" ""
"00077400" "" "" "" "1" "" "01695" "{PMID:Chacón-Camacho 2013:23419329}" "" "?" "?" "Mexico" "" "0" "" "" "?" ""
"00077401" "" "" "" "1" "" "01695" "{PMID:Chacón-Camacho 2013:23419329}" "" "?" "?" "Mexico" "" "0" "" "" "?" ""
"00077402" "" "" "" "1" "" "01695" "{PMID:Chacón-Camacho 2013:23419329}" "" "?" "?" "Mexico" "" "0" "" "" "?" ""
"00077403" "" "" "" "1" "" "01695" "{PMID:Chacón-Camacho 2013:23419329}" "" "?" "?" "Mexico" "" "0" "" "" "?" ""
"00077404" "" "" "" "1" "" "01695" "{PMID:Chacón-Camacho 2013:23419329}" "" "?" "?" "Mexico" "" "0" "" "" "?" ""
"00077405" "" "" "" "1" "" "01695" "{PMID:Chacón-Camacho 2013:23419329}" "" "?" "?" "Mexico" "" "0" "" "" "?" ""
"00077406" "" "" "" "1" "" "01695" "{PMID:Chacón-Camacho 2013:23419329}" "" "?" "?" "Mexico" "" "0" "" "" "?" ""
"00077407" "" "" "" "1" "" "01695" "{PMID:Chacón-Camacho 2013:23419329}" "" "?" "?" "Mexico" "" "0" "" "" "?" ""
"00077408" "" "" "" "1" "" "01695" "{PMID:Heathfield 2013:23695285}" "" "?" "?" "South Africa" "" "0" "" "" "white" ""
"00077409" "" "" "" "1" "" "01695" "{PMID:Heathfield 2013:23695285}" "" "?" "?" "South Africa" "" "0" "" "" "white" ""
"00077410" "" "" "" "1" "" "01695" "{PMID:Heathfield 2013:23695285}" "" "?" "?" "South Africa" "" "0" "" "" "white" ""
"00077411" "" "" "" "1" "" "01695" "{PMID:Heathfield 2013:23695285}" "" "?" "?" "South Africa" "" "0" "" "" "white" ""
"00077412" "" "" "" "1" "" "01695" "{PMID:Heathfield 2013:23695285}" "" "?" "?" "South Africa" "" "0" "" "" "white" ""
"00077413" "" "" "" "1" "" "01695" "{PMID:Heathfield 2013:23695285}" "" "?" "?" "South Africa" "" "0" "" "" "white" ""
"00077414" "" "" "" "1" "" "01695" "{PMID:Heathfield 2013:23695285}" "" "?" "?" "South Africa" "" "0" "" "" "white" ""
"00077415" "" "" "" "1" "" "01695" "{PMID:Heathfield 2013:23695285}" "" "?" "?" "South Africa" "" "0" "" "" "white" ""
"00077416" "" "" "" "1" "" "01695" "{PMID:Heathfield 2013:23695285}" "" "?" "?" "South Africa" "" "0" "" "" "white" ""
"00077417" "" "" "" "1" "" "01695" "{PMID:Heathfield 2013:23695285}" "" "?" "?" "South Africa" "" "0" "" "" "white" ""
"00077418" "" "" "" "1" "" "01695" "{PMID:Heathfield 2013:23695285}" "" "?" "?" "South Africa" "" "0" "" "" "white" ""
"00077419" "" "" "" "1" "" "01695" "{PMID:Heathfield 2013:23695285}" "" "?" "?" "South Africa" "" "0" "" "" "white" ""
"00077420" "" "" "" "1" "" "01695" "{PMID:Heathfield 2013:23695285}" "" "?" "?" "South Africa" "" "0" "" "" "white" ""
"00077421" "" "" "" "1" "" "01695" "{PMID:Heathfield 2013:23695285}" "" "?" "?" "South Africa" "" "0" "" "" "white" ""
"00077422" "" "" "" "1" "" "01695" "{PMID:Heathfield 2013:23695285}" "" "?" "?" "South Africa" "" "0" "" "" "white" ""
"00077423" "" "" "" "1" "" "01695" "{PMID:Heathfield 2013:23695285}" "" "?" "?" "South Africa" "" "0" "" "" "white" ""
"00077424" "" "" "" "1" "" "01695" "{PMID:Heathfield 2013:23695285}" "" "?" "?" "South Africa" "" "0" "" "" "white" ""
"00077425" "" "" "" "1" "" "01695" "{PMID:Heathfield 2013:23695285}" "" "?" "?" "South Africa" "" "0" "" "" "white" ""
"00077426" "" "" "" "1" "" "01695" "{PMID:Heathfield 2013:23695285}" "" "?" "?" "South Africa" "" "0" "" "" "white" ""
"00077427" "" "" "" "1" "" "01695" "{PMID:Heathfield 2013:23695285}" "" "?" "?" "South Africa" "" "0" "" "" "white" ""
"00077428" "" "" "" "1" "" "01695" "{PMID:Heathfield 2013:23695285}" "" "?" "?" "South Africa" "" "0" "" "" "white" ""
"00077429" "" "" "" "1" "" "01695" "{PMID:Heathfield 2013:23695285}" "" "?" "?" "South Africa" "" "0" "" "" "white" ""
"00077430" "" "" "" "1" "" "01695" "{PMID:Heathfield 2013:23695285}" "" "?" "?" "South Africa" "" "0" "" "" "white" ""
"00077431" "" "" "" "1" "" "01695" "{PMID:Heathfield 2013:23695285}" "" "?" "?" "South Africa" "" "0" "" "" "white" ""
"00077432" "" "" "" "1" "" "01695" "{PMID:Heathfield 2013:23695285}" "" "?" "?" "South Africa" "" "0" "" "" "white" ""
"00077433" "" "" "" "1" "" "01695" "{PMID:Heathfield 2013:23695285}" "" "?" "?" "South Africa" "" "0" "" "" "white" ""
"00077434" "" "" "" "1" "" "01695" "{PMID:Heathfield 2013:23695285}" "" "?" "?" "South Africa" "" "0" "" "" "white" ""
"00077435" "" "" "" "1" "" "01695" "{PMID:Heathfield 2013:23695285}" "" "?" "?" "South Africa" "" "0" "" "" "white" ""
"00077436" "" "" "" "1" "" "01695" "{PMID:Heathfield 2013:23695285}" "" "?" "?" "South Africa" "" "0" "" "" "white" ""
"00077437" "" "" "" "1" "" "01695" "{PMID:Heathfield 2013:23695285}" "" "?" "?" "South Africa" "" "0" "" "" "white" ""
"00077438" "" "" "" "1" "" "01695" "{PMID:Heathfield 2013:23695285}" "" "?" "?" "South Africa" "" "0" "" "" "white" ""
"00077439" "" "" "" "1" "" "01695" "{PMID:Heathfield 2013:23695285}" "" "?" "?" "South Africa" "" "0" "" "" "white" ""
"00077440" "" "" "" "1" "" "01695" "{PMID:Heathfield 2013:23695285}" "" "?" "?" "South Africa" "" "0" "" "" "white" ""
"00077441" "" "" "" "1" "" "01695" "{PMID:Heathfield 2013:23695285}" "" "?" "?" "South Africa" "" "0" "" "" "white" ""
"00077442" "" "" "" "1" "" "01695" "{PMID:Heathfield 2013:23695285}" "" "?" "?" "South Africa" "" "0" "" "" "white" ""
"00077443" "" "" "" "1" "" "01695" "{PMID:Heathfield 2013:23695285}" "" "?" "?" "South Africa" "" "0" "" "" "white" ""
"00077444" "" "" "" "1" "" "01695" "{PMID:Heathfield 2013:23695285}" "" "?" "?" "South Africa" "" "0" "" "" "white" ""
"00077445" "" "" "" "1" "" "01695" "{PMID:Heathfield 2013:23695285}" "" "?" "?" "South Africa" "" "0" "" "" "white" ""
"00077446" "" "" "" "1" "" "01695" "{PMID:Heathfield 2013:23695285}" "" "?" "?" "South Africa" "" "0" "" "" "white" ""
"00077447" "" "" "" "1" "" "01695" "{PMID:Heathfield 2013:23695285}" "" "?" "?" "South Africa" "" "0" "" "" "white" ""
"00077448" "" "" "" "1" "" "01695" "{PMID:Heathfield 2013:23695285}" "" "?" "?" "South Africa" "" "0" "" "" "white" ""
"00077449" "" "" "" "1" "" "01695" "{PMID:Heathfield 2013:23695285}" "" "?" "?" "South Africa" "" "0" "" "" "white" ""
"00077450" "" "" "" "1" "" "01695" "{PMID:Heathfield 2013:23695285}" "" "?" "?" "South Africa" "" "0" "" "" "white" ""
"00077451" "" "" "" "1" "" "01695" "{PMID:Heathfield 2013:23695285}" "" "?" "?" "South Africa" "" "0" "" "" "white" ""
"00077452" "" "" "" "1" "" "01695" "{PMID:Heathfield 2013:23695285}" "" "?" "?" "South Africa" "" "0" "" "" "white" ""
"00077453" "" "" "" "1" "" "01695" "{PMID:Heathfield 2013:23695285}" "" "?" "?" "South Africa" "" "0" "" "" "white" ""
"00077454" "" "" "" "1" "" "01695" "{PMID:Heathfield 2013:23695285}" "" "?" "?" "South Africa" "" "0" "" "" "white" ""
"00077455" "" "" "" "1" "" "01695" "{PMID:Heathfield 2013:23695285}" "" "?" "?" "South Africa" "" "0" "" "" "white" ""
"00077456" "" "" "" "1" "" "01695" "{PMID:Heathfield 2013:23695285}" "" "?" "?" "South Africa" "" "0" "" "" "white" ""
"00077457" "" "" "" "1" "" "01695" "{PMID:Heathfield 2013:23695285}" "" "?" "?" "South Africa" "" "0" "" "" "white" ""
"00077458" "" "" "" "1" "" "01695" "{PMID:Heathfield 2013:23695285}" "" "?" "?" "South Africa" "" "0" "" "" "white" ""
"00077459" "" "" "" "1" "" "01695" "{PMID:Heathfield 2013:23695285}" "" "?" "?" "South Africa" "" "0" "" "" "white" ""
"00077460" "" "" "" "1" "" "01695" "{PMID:Heathfield 2013:23695285}" "" "?" "?" "South Africa" "" "0" "" "" "white" ""
"00077461" "" "" "" "1" "" "01695" "{PMID:Heathfield 2013:23695285}" "" "?" "?" "South Africa" "" "0" "" "" "white" ""
"00077462" "" "" "" "1" "" "01695" "{PMID:Heathfield 2013:23695285}" "" "?" "?" "South Africa" "" "0" "" "" "white" ""
"00077463" "" "" "" "1" "" "01695" "{PMID:Heathfield 2013:23695285}" "" "?" "?" "South Africa" "" "0" "" "" "white" ""
"00077464" "" "" "" "1" "" "01695" "{PMID:Heathfield 2013:23695285}" "" "?" "?" "South Africa" "" "0" "" "" "white" ""
"00077465" "" "" "" "1" "" "01695" "{PMID:Heathfield 2013:23695285}" "" "?" "?" "South Africa" "" "0" "" "" "white" ""
"00077466" "" "" "" "1" "" "01695" "{PMID:Heathfield 2013:23695285}" "" "?" "?" "South Africa" "" "0" "" "" "white" ""
"00077467" "" "" "" "1" "" "01695" "{PMID:Heathfield 2013:23695285}" "" "?" "?" "South Africa" "" "0" "" "" "white" ""
"00077468" "" "" "" "1" "" "01695" "{PMID:Heathfield 2013:23695285}" "" "?" "?" "South Africa" "" "0" "" "" "white" ""
"00077469" "" "" "" "1" "" "01695" "{PMID:Heathfield 2013:23695285}" "" "?" "?" "South Africa" "" "0" "" "" "white" ""
"00077470" "" "" "" "1" "" "01695" "{PMID:Heathfield 2013:23695285}" "" "?" "?" "South Africa" "" "0" "" "" "white" ""
"00077471" "" "" "" "1" "" "01695" "{PMID:Heathfield 2013:23695285}" "" "?" "?" "South Africa" "" "0" "" "" "white" ""
"00077472" "" "" "" "1" "" "01695" "{PMID:Heathfield 2013:23695285}" "" "?" "?" "South Africa" "" "0" "" "" "white" ""
"00077473" "" "" "" "1" "" "01695" "{PMID:Heathfield 2013:23695285}" "" "?" "?" "South Africa" "" "0" "" "" "white" ""
"00077474" "" "" "" "1" "" "01695" "{PMID:Heathfield 2013:23695285}" "" "?" "?" "South Africa" "" "0" "" "" "white" ""
"00077475" "" "" "" "1" "" "01695" "{PMID:Heathfield 2013:23695285}" "" "?" "?" "South Africa" "" "0" "" "" "white" ""
"00077476" "" "" "" "1" "" "01695" "{PMID:Heathfield 2013:23695285}" "" "?" "?" "South Africa" "" "0" "" "" "white" ""
"00077477" "" "" "" "1" "" "01695" "{PMID:Heathfield 2013:23695285}" "" "?" "?" "South Africa" "" "0" "" "" "white" ""
"00077478" "" "" "" "1" "" "01695" "{PMID:Heathfield 2013:23695285}" "" "?" "?" "South Africa" "" "0" "" "" "white" ""
"00077479" "" "" "" "1" "" "01695" "{PMID:Heathfield 2013:23695285}" "" "?" "?" "South Africa" "" "0" "" "" "white" ""
"00077480" "" "" "" "1" "" "01695" "{PMID:Heathfield 2013:23695285}" "" "?" "?" "South Africa" "" "0" "" "" "white" ""
"00077481" "" "" "" "1" "" "01695" "{PMID:Heathfield 2013:23695285}" "" "?" "?" "South Africa" "" "0" "" "" "white" ""
"00077482" "" "" "" "1" "" "01695" "{PMID:Heathfield 2013:23695285}" "" "?" "?" "South Africa" "" "0" "" "" "white" ""
"00077483" "" "" "" "1" "" "01695" "{PMID:Heathfield 2013:23695285}" "" "?" "?" "South Africa" "" "0" "" "" "white" ""
"00077484" "" "" "" "1" "" "01695" "{PMID:Heathfield 2013:23695285}" "" "?" "?" "South Africa" "" "0" "" "" "white" ""
"00077485" "" "" "" "1" "" "01695" "{PMID:Heathfield 2013:23695285}" "" "?" "?" "South Africa" "" "0" "" "" "white" ""
"00077486" "" "" "" "1" "" "01695" "{PMID:Heathfield 2013:23695285}" "" "?" "?" "South Africa" "" "0" "" "" "white" ""
"00077487" "" "" "" "1" "" "01695" "{PMID:Heathfield 2013:23695285}" "" "?" "?" "South Africa" "" "0" "" "" "white" ""
"00077488" "" "" "" "1" "" "01695" "{PMID:Heathfield 2013:23695285}" "" "?" "?" "South Africa" "" "0" "" "" "white" ""
"00077489" "" "" "" "1" "" "01695" "{PMID:Heathfield 2013:23695285}" "" "?" "?" "South Africa" "" "0" "" "" "white" ""
"00077490" "" "" "" "1" "" "01695" "{PMID:Heathfield 2013:23695285}" "" "?" "?" "South Africa" "" "0" "" "" "white" ""
"00077491" "" "" "" "1" "" "01695" "{PMID:Heathfield 2013:23695285}" "" "?" "?" "South Africa" "" "0" "" "" "white" ""
"00077492" "" "" "" "1" "" "01695" "{PMID:Heathfield 2013:23695285}" "" "?" "?" "South Africa" "" "0" "" "" "white" ""
"00077493" "" "" "" "1" "" "01695" "{PMID:Heathfield 2013:23695285}" "" "?" "?" "South Africa" "" "0" "" "" "white" ""
"00077494" "" "" "" "1" "" "01695" "{PMID:Heathfield 2013:23695285}" "" "?" "?" "South Africa" "" "0" "" "" "white" ""
"00077495" "" "" "" "1" "" "01695" "{PMID:Heathfield 2013:23695285}" "" "?" "?" "South Africa" "" "0" "" "" "white" ""
"00077496" "" "" "" "1" "" "01695" "{PMID:Heathfield 2013:23695285}" "" "?" "?" "South Africa" "" "0" "" "" "white" ""
"00077497" "" "" "" "1" "" "01695" "{PMID:Heathfield 2013:23695285}" "" "?" "?" "South Africa" "" "0" "" "" "white" ""
"00077498" "" "" "" "1" "" "01695" "{PMID:Heathfield 2013:23695285}" "" "?" "?" "South Africa" "" "0" "" "" "white" ""
"00077499" "" "" "" "1" "" "01695" "{PMID:Heathfield 2013:23695285}" "" "?" "?" "South Africa" "" "0" "" "" "white" ""
"00077500" "" "" "" "1" "" "01695" "{PMID:Heathfield 2013:23695285}" "" "?" "?" "South Africa" "" "0" "" "" "white" ""
"00077501" "" "" "" "1" "" "01695" "{PMID:Heathfield 2013:23695285}" "" "?" "?" "South Africa" "" "0" "" "" "white" ""
"00077502" "" "" "" "1" "" "01695" "{PMID:Heathfield 2013:23695285}" "" "?" "?" "South Africa" "" "0" "" "" "white" ""
"00077503" "" "" "" "1" "" "01695" "{PMID:Heathfield 2013:23695285}" "" "?" "?" "South Africa" "" "0" "" "" "white" ""
"00077504" "" "" "" "1" "" "01695" "{PMID:Heathfield 2013:23695285}" "" "?" "?" "South Africa" "" "0" "" "" "white" ""
"00077505" "" "" "" "1" "" "01695" "{PMID:Heathfield 2013:23695285}" "" "?" "?" "South Africa" "" "0" "" "" "white" ""
"00077506" "" "" "" "1" "" "01695" "{PMID:Heathfield 2013:23695285}" "" "?" "?" "South Africa" "" "0" "" "" "white" ""
"00077507" "" "" "" "1" "" "01695" "{PMID:Heathfield 2013:23695285}" "" "?" "?" "South Africa" "" "0" "" "" "white" ""
"00077508" "" "" "" "1" "" "01695" "{PMID:Heathfield 2013:23695285}" "" "?" "?" "South Africa" "" "0" "" "" "white" ""
"00077509" "" "" "" "1" "" "01695" "{PMID:Heathfield 2013:23695285}" "" "?" "?" "South Africa" "" "0" "" "" "white" ""
"00077510" "" "" "" "1" "" "01695" "{PMID:Heathfield 2013:23695285}" "" "?" "?" "South Africa" "" "0" "" "" "white" ""
"00077511" "" "" "" "1" "" "01695" "{PMID:Heathfield 2013:23695285}" "" "?" "?" "South Africa" "" "0" "" "" "white" ""
"00077512" "" "" "" "1" "" "01695" "{PMID:Heathfield 2013:23695285}" "" "?" "?" "South Africa" "" "0" "" "" "white" ""
"00077513" "" "" "" "1" "" "01695" "{PMID:Heathfield 2013:23695285}" "" "?" "?" "South Africa" "" "0" "" "" "white" ""
"00077514" "" "" "" "1" "" "01695" "{PMID:Heathfield 2013:23695285}" "" "?" "?" "South Africa" "" "0" "" "" "white" ""
"00077515" "" "" "" "1" "" "01695" "{PMID:Heathfield 2013:23695285}" "" "?" "?" "South Africa" "" "0" "" "" "white" ""
"00077516" "" "" "" "1" "" "01695" "{PMID:Heathfield 2013:23695285}" "" "?" "?" "South Africa" "" "0" "" "" "white" ""
"00077517" "" "" "" "1" "" "01695" "{PMID:Heathfield 2013:23695285}" "" "?" "?" "South Africa" "" "0" "" "" "white" ""
"00077518" "" "" "" "1" "" "01695" "{PMID:Heathfield 2013:23695285}" "" "?" "?" "South Africa" "" "0" "" "" "white" ""
"00077519" "" "" "" "1" "" "01695" "{PMID:Heathfield 2013:23695285}" "" "?" "?" "South Africa" "" "0" "" "" "white" ""
"00077520" "" "" "" "1" "" "01695" "{PMID:Heathfield 2013:23695285}" "" "?" "?" "South Africa" "" "0" "" "" "white" ""
"00077521" "" "" "" "1" "" "01695" "{PMID:Heathfield 2013:23695285}" "" "?" "?" "South Africa" "" "0" "" "" "white" ""
"00077522" "" "" "" "1" "" "01695" "{PMID:Heathfield 2013:23695285}" "" "?" "?" "South Africa" "" "0" "" "" "white" ""
"00077523" "" "" "" "1" "" "01695" "{PMID:Heathfield 2013:23695285}" "" "?" "?" "South Africa" "" "0" "" "" "white" ""
"00077524" "" "" "" "1" "" "01695" "{PMID:Heathfield 2013:23695285}" "" "?" "?" "South Africa" "" "0" "" "" "white" ""
"00077525" "" "" "" "1" "" "01695" "{PMID:Heathfield 2013:23695285}" "" "?" "?" "South Africa" "" "0" "" "" "white" ""
"00077526" "" "" "" "2" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}, {PMID:Sanchez-Alcudia 2014:25342620}" "2-generation family, affected brother/sister" "M" "?" "Spain" "" "0" "" "" "?" "RP-0280PatII1"
"00077527" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077528" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077529" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077530" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077531" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077532" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077533" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077534" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077535" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077536" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077537" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077538" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077539" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077540" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077541" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077542" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077543" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077544" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077545" "" "" "" "2" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871},{PMID:Sanchez-Alcudia 2014:25342620}" "3-generation family, affected mother/daughter" "F" "yes" "Spain" "" "0" "" "" "?" "RP-0714PatII3"
"00077546" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077547" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}, {PMID:Aguirre-Lamban 2009:19959634}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077548" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077549" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077550" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077551" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077552" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077553" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077554" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077555" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077556" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077557" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077558" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077559" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077560" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077561" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077562" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077563" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077564" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077565" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077566" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077567" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077568" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077569" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077570" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077571" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077572" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077573" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077574" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077575" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077576" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077577" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077578" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077579" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077580" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077581" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077582" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077583" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077584" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077585" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077586" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077587" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077588" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077589" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}, {PMID:Aguirre-Lamban 2009:19959634}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077590" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077591" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077592" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077593" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077594" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077595" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077596" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077597" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077598" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077599" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077600" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077601" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077602" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077603" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077604" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077605" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077606" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077607" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077608" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077609" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077610" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077611" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077612" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077613" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077614" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077615" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077616" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077617" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077618" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077619" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077620" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077621" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077622" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077623" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077624" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077625" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077626" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077627" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077628" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077629" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077630" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077631" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077632" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077633" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077634" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077635" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077636" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077637" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077638" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077639" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077640" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077641" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077642" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077643" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077644" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077645" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077646" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077647" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077648" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077649" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077650" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077651" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077652" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077653" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077654" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077655" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077656" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077657" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077658" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077659" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077660" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077661" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077662" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077663" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077664" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077665" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077666" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077667" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077668" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077669" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077670" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077671" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077672" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077673" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077674" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077675" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077676" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077677" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077678" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077679" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077680" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077681" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077682" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077683" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077684" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077685" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077686" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077687" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077688" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077689" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077690" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077691" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077692" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077693" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077694" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077695" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077696" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077697" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077698" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077699" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077700" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077701" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077702" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077703" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077704" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077705" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077706" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077707" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077708" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077709" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077710" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077711" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077712" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077713" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077714" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077715" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077716" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077717" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077718" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077719" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077720" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077721" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077722" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077723" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077724" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077725" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077726" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077727" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077728" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077729" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077730" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077731" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077732" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077733" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077734" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077735" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "?" "?" "Spain" "" "0" "" "" "?" ""
"00077736" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23769331}" "" "M" "yes" "" "" "0" "" "" "South Asian" ""
"00077737" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23769331}" "" "F" "yes" "" "" "0" "" "" "South Asian" ""
"00077738" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23769331}" "" "M" "no" "" "" "0" "" "" "European" ""
"00077739" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23769331}" "" "F" "yes" "" "" "0" "" "" "South Asian" ""
"00077740" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23769331}" "" "M" "yes" "" "" "0" "" "" "South Asian" ""
"00077741" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23769331}" "" "M" "yes" "" "" "0" "" "" "South Asian" ""
"00077742" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23769331}" "" "F" "yes" "" "" "0" "" "" "South Asian" ""
"00077743" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23769331}" "" "M" "yes" "" "" "0" "" "" "Middle East Asian" ""
"00077744" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23769331}" "" "F" "yes" "" "" "0" "" "" "South Asian" ""
"00077745" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23769331}" "" "M" "yes" "" "" "0" "" "" "South Asian" ""
"00077746" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23769331}" "" "F" "yes" "" "" "0" "" "" "South Asian" ""
"00077747" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23769331}" "" "F" "no" "" "" "0" "" "" "European" ""
"00077748" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23769331}" "" "M" "yes" "" "" "0" "" "" "Middle East Asian" ""
"00077749" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23769331}" "" "M" "yes" "" "" "0" "" "" "South Asian" ""
"00077750" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23769331}" "" "M" "yes" "" "" "0" "" "" "South Asian" ""
"00077751" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23769331}" "" "M" "yes" "" "" "0" "" "" "South Asian" ""
"00077752" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23769331}" "" "M" "yes" "" "" "0" "" "" "South Asian" ""
"00077753" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23769331}" "" "M" "yes" "" "" "0" "" "" "South Asian" ""
"00077754" "" "" "" "1" "" "01695" "{PMID:Huang 2013:23776498}" "" "M" "?" "China" "" "0" "" "" "Chinese" ""
"00077755" "" "" "" "1" "" "01695" "{PMID:Ritter 2013:23882696}" "" "M" "?" "" "" "0" "" "" "?" ""
"00077756" "" "" "" "1" "" "01695" "{PMID:Ritter 2013:23882696}" "" "F" "?" "" "" "0" "" "" "?" ""
"00077757" "" "" "" "1" "" "01695" "{PMID:Ritter 2013:23882696}" "" "M" "?" "" "" "0" "" "" "?" ""
"00077758" "" "" "" "1" "" "01695" "{PMID:Ritter 2013:23882696}" "" "F" "?" "" "" "0" "" "" "?" ""
"00077759" "" "" "" "1" "" "01695" "{PMID:Ritter 2013:23882696}" "" "M" "?" "" "" "0" "" "" "?" ""
"00077760" "" "" "" "1" "" "01695" "{PMID:Ritter 2013:23882696}" "" "F" "?" "" "" "0" "" "" "?" ""
"00077761" "" "" "" "1" "" "01695" "{PMID:Ritter 2013:23882696}" "" "F" "?" "" "" "0" "" "" "?" ""
"00077762" "" "" "" "1" "" "01695" "{PMID:Ritter 2013:23882696}" "" "F" "?" "" "" "0" "" "" "?" ""
"00077763" "" "" "" "1" "" "01695" "{PMID:Ritter 2013:23882696}" "" "F" "?" "" "" "0" "" "" "?" ""
"00077764" "" "" "" "1" "" "01695" "{PMID:Ritter 2013:23882696}" "" "F" "?" "" "" "0" "" "" "?" ""
"00077765" "" "" "" "1" "" "01695" "{PMID:Ritter 2013:23882696}" "" "M" "?" "" "" "0" "" "" "?" ""
"00077766" "" "" "" "1" "" "01695" "{PMID:Ritter 2013:23882696}" "" "M" "?" "" "" "0" "" "" "?" ""
"00077767" "" "" "" "1" "" "01695" "{PMID:Ritter 2013:23882696}" "" "F" "?" "" "" "0" "" "" "?" ""
"00077768" "" "" "" "1" "" "01695" "{PMID:Ritter 2013:23882696}" "" "M" "?" "" "" "0" "" "" "?" ""
"00077769" "" "" "" "1" "" "01695" "{PMID:Gemenetzi 2013:23949494}" "" "M" "?" "" "" "0" "" "" "?" ""
"00077770" "" "" "" "1" "" "01695" "{PMID:Gemenetzi 2013:23949494}" "" "F" "?" "" "" "0" "" "" "?" ""
"00077771" "" "" "" "1" "" "01695" "{PMID:Gemenetzi 2013:23949494}" "" "F" "?" "" "" "0" "" "" "?" ""
"00077772" "" "" "" "1" "" "01695" "{PMID:Gemenetzi 2013:23949494}" "" "M" "?" "" "" "0" "" "" "?" ""
"00077773" "" "" "" "1" "" "01695" "{PMID:Gemenetzi 2013:23949494}" "" "M" "?" "" "" "0" "" "" "?" ""
"00077774" "" "" "" "1" "" "01695" "{PMID:Gemenetzi 2013:23949494}" "" "F" "?" "" "" "0" "" "" "?" ""
"00077775" "" "" "" "1" "" "01695" "{PMID:Gemenetzi 2013:23949494}" "" "M" "?" "" "" "0" "" "" "?" ""
"00077776" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23953153}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077777" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23953153}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077778" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23953153}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077779" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23953153}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077780" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23953153}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077781" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23953153}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077782" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23953153}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077783" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23953153}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077784" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23953153}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077785" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23953153}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077786" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23953153}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077787" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23953153}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077788" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23953153}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077789" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23953153}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077790" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23953153}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077791" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23953153}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077792" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23953153}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077793" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23953153}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077794" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23953153}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077795" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23953153}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077796" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23953153}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077797" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23953153}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077798" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23953153}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077799" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23953153}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077800" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23953153}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077801" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23953153}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077802" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23953153}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077803" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23953153}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077804" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23953153}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077805" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23953153}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077806" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23953153}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077807" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23982839}" "" "?" "?" "United Kingdom (Great Britain)" "" "0" "" "" "?" ""
"00077808" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23982839}" "" "?" "?" "United Kingdom (Great Britain)" "" "0" "" "" "?" ""
"00077809" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23982839}" "" "?" "?" "United Kingdom (Great Britain)" "" "0" "" "" "?" ""
"00077810" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23982839}" "" "?" "?" "United Kingdom (Great Britain)" "" "0" "" "" "?" ""
"00077811" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23982839}" "" "?" "?" "United Kingdom (Great Britain)" "" "0" "" "" "?" ""
"00077812" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23982839}" "" "?" "?" "United Kingdom (Great Britain)" "" "0" "" "" "?" ""
"00077813" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23982839}" "" "?" "?" "United Kingdom (Great Britain)" "" "0" "" "" "?" ""
"00077814" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23982839}" "" "?" "?" "United Kingdom (Great Britain)" "" "0" "" "" "?" ""
"00077815" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23982839}" "" "?" "?" "United Kingdom (Great Britain)" "" "0" "" "" "?" ""
"00077816" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23982839}" "" "?" "?" "United Kingdom (Great Britain)" "" "0" "" "" "?" ""
"00077817" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23982839}" "" "?" "?" "United Kingdom (Great Britain)" "" "0" "" "" "?" ""
"00077818" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23982839}" "" "?" "?" "United Kingdom (Great Britain)" "" "0" "" "" "?" ""
"00077819" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23982839}" "" "?" "?" "United Kingdom (Great Britain)" "" "0" "" "" "?" ""
"00077820" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23982839}" "" "?" "?" "United Kingdom (Great Britain)" "" "0" "" "" "?" ""
"00077821" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23982839}" "" "?" "?" "United Kingdom (Great Britain)" "" "0" "" "" "?" ""
"00077822" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23982839}" "" "?" "?" "United Kingdom (Great Britain)" "" "0" "" "" "?" ""
"00077823" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23982839}" "" "?" "?" "United Kingdom (Great Britain)" "" "0" "" "" "?" ""
"00077824" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23982839}" "" "?" "?" "United Kingdom (Great Britain)" "" "0" "" "" "?" ""
"00077825" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23982839}" "" "?" "?" "United Kingdom (Great Britain)" "" "0" "" "" "?" ""
"00077826" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23982839}" "" "?" "?" "United Kingdom (Great Britain)" "" "0" "" "" "?" ""
"00077827" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23982839}" "" "?" "?" "United Kingdom (Great Britain)" "" "0" "" "" "?" ""
"00077828" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23982839}" "" "?" "?" "United Kingdom (Great Britain)" "" "0" "" "" "?" ""
"00077829" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23982839}" "" "?" "?" "United Kingdom (Great Britain)" "" "0" "" "" "?" ""
"00077830" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23982839}" "" "?" "?" "United Kingdom (Great Britain)" "" "0" "" "" "?" ""
"00077831" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23982839}" "" "?" "?" "United Kingdom (Great Britain)" "" "0" "" "" "?" ""
"00077832" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23982839}" "" "?" "?" "United Kingdom (Great Britain)" "" "0" "" "" "?" ""
"00077833" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23982839}" "" "?" "?" "United Kingdom (Great Britain)" "" "0" "" "" "?" ""
"00077834" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23982839}" "" "?" "?" "United Kingdom (Great Britain)" "" "0" "" "" "?" ""
"00077835" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23982839}" "" "?" "?" "United Kingdom (Great Britain)" "" "0" "" "" "?" ""
"00077836" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23982839}" "" "?" "?" "United Kingdom (Great Britain)" "" "0" "" "" "?" ""
"00077837" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23982839}" "" "?" "?" "United Kingdom (Great Britain)" "" "0" "" "" "?" ""
"00077838" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23982839}" "" "?" "?" "United Kingdom (Great Britain)" "" "0" "" "" "?" ""
"00077839" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23982839}" "" "?" "?" "United Kingdom (Great Britain)" "" "0" "" "" "?" ""
"00077840" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23982839}" "" "?" "?" "United Kingdom (Great Britain)" "" "0" "" "" "?" ""
"00077841" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23982839}" "" "?" "?" "United Kingdom (Great Britain)" "" "0" "" "" "?" ""
"00077842" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23982839}" "" "?" "?" "United Kingdom (Great Britain)" "" "0" "" "" "?" ""
"00077843" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23982839}" "" "?" "?" "United Kingdom (Great Britain)" "" "0" "" "" "?" ""
"00077844" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23982839}" "" "?" "?" "United Kingdom (Great Britain)" "" "0" "" "" "?" ""
"00077845" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23982839}" "" "?" "?" "United Kingdom (Great Britain)" "" "0" "" "" "?" ""
"00077846" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23982839}" "" "?" "?" "United Kingdom (Great Britain)" "" "0" "" "" "?" ""
"00077847" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23982839}" "" "?" "?" "United Kingdom (Great Britain)" "" "0" "" "" "?" ""
"00077848" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23982839}" "" "?" "?" "United Kingdom (Great Britain)" "" "0" "" "" "?" ""
"00077849" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23982839}" "" "?" "?" "United Kingdom (Great Britain)" "" "0" "" "" "?" ""
"00077850" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23982839}" "" "?" "?" "United Kingdom (Great Britain)" "" "0" "" "" "?" ""
"00077851" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23982839}" "" "?" "?" "United Kingdom (Great Britain)" "" "0" "" "" "?" ""
"00077852" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23982839}" "" "?" "?" "United Kingdom (Great Britain)" "" "0" "" "" "?" ""
"00077853" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23982839}" "" "?" "?" "United Kingdom (Great Britain)" "" "0" "" "" "?" ""
"00077854" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23982839}" "" "?" "?" "United Kingdom (Great Britain)" "" "0" "" "" "?" ""
"00077855" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23982839}" "" "?" "?" "United Kingdom (Great Britain)" "" "0" "" "" "?" ""
"00077856" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23982839}" "" "?" "?" "United Kingdom (Great Britain)" "" "0" "" "" "?" ""
"00077857" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23982839}" "" "?" "?" "United Kingdom (Great Britain)" "" "0" "" "" "?" ""
"00077858" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23982839}" "" "?" "?" "United Kingdom (Great Britain)" "" "0" "" "" "?" ""
"00077859" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23982839}" "" "?" "?" "United Kingdom (Great Britain)" "" "0" "" "" "?" ""
"00077860" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23982839}" "" "?" "?" "United Kingdom (Great Britain)" "" "0" "" "" "?" ""
"00077861" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23982839}" "" "?" "?" "United Kingdom (Great Britain)" "" "0" "" "" "?" ""
"00077862" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23982839}" "" "?" "?" "United Kingdom (Great Britain)" "" "0" "" "" "?" ""
"00077863" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23982839}" "" "?" "?" "United Kingdom (Great Britain)" "" "0" "" "" "?" ""
"00077864" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23982839}" "" "?" "?" "United Kingdom (Great Britain)" "" "0" "" "" "?" ""
"00077865" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23982839}" "" "?" "?" "United Kingdom (Great Britain)" "" "0" "" "" "?" ""
"00077866" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23982839}, {PMID:Zernant 2011:21911583}" "" "?" "?" "United Kingdom (Great Britain)" "" "0" "" "" "?" ""
"00077867" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23982839}" "" "?" "?" "United Kingdom (Great Britain)" "" "0" "" "" "?" ""
"00077868" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23982839}" "" "?" "?" "United Kingdom (Great Britain)" "" "0" "" "" "?" ""
"00077869" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23982839}" "" "?" "?" "United Kingdom (Great Britain)" "" "0" "" "" "?" ""
"00077870" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23982839}" "" "?" "?" "United Kingdom (Great Britain)" "" "0" "" "" "?" ""
"00077871" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23982839}" "" "?" "?" "United Kingdom (Great Britain)" "" "0" "" "" "?" ""
"00077872" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23982839}" "" "?" "?" "United Kingdom (Great Britain)" "" "0" "" "" "?" ""
"00077873" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23982839}" "" "?" "?" "United Kingdom (Great Britain)" "" "0" "" "" "?" ""
"00077874" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23982839}" "" "?" "?" "United Kingdom (Great Britain)" "" "0" "" "" "?" ""
"00077875" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23982839}" "" "?" "?" "United Kingdom (Great Britain)" "" "0" "" "" "?" ""
"00077876" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23982839}" "" "?" "?" "United Kingdom (Great Britain)" "" "0" "" "" "?" ""
"00077877" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23982839}" "" "?" "?" "United Kingdom (Great Britain)" "" "0" "" "" "?" ""
"00077878" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23982839}" "" "?" "?" "United Kingdom (Great Britain)" "" "0" "" "" "?" ""
"00077879" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23982839}" "" "?" "?" "United Kingdom (Great Britain)" "" "0" "" "" "?" ""
"00077880" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23982839}" "" "?" "?" "United Kingdom (Great Britain)" "" "0" "" "" "?" ""
"00077881" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23982839}" "" "?" "?" "United Kingdom (Great Britain)" "" "0" "" "" "?" ""
"00077882" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23982839}" "" "?" "?" "United Kingdom (Great Britain)" "" "0" "" "" "?" ""
"00077883" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23982839}" "" "?" "?" "United Kingdom (Great Britain)" "" "0" "" "" "?" ""
"00077884" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23982839}" "" "?" "?" "United Kingdom (Great Britain)" "" "0" "" "" "?" ""
"00077885" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23982839}" "" "?" "?" "United Kingdom (Great Britain)" "" "0" "" "" "?" ""
"00077886" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23982839}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077887" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23982839}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077888" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23982839}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077889" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23982839}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077890" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23982839}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077891" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23982839}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077892" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23982839}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077893" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23982839}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077894" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23982839}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077895" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23982839}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077896" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23982839}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077897" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23982839}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077898" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23982839}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077899" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23982839}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077900" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23982839}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077901" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23982839}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077902" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23982839}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077903" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23982839}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077904" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23982839}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077905" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23982839}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077906" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23982839}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077907" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23982839}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077908" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23982839}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077909" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23982839}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077910" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23982839}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077911" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23982839}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077912" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23982839}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077913" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23982839}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077914" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23982839}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077915" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23982839}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077916" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23982839}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077917" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23982839}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077918" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23982839}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077919" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23982839}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077920" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23982839}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077921" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23982839}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077922" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23982839}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077923" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23982839}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077924" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23982839}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077925" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23982839}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077926" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23982839}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077927" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23982839}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077928" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23982839}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077929" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23982839}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077930" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23982839}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077931" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23982839}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077932" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23982839}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077933" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23982839}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077934" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23982839}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077935" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23982839}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077936" "" "" "" "1" "" "01695" "{PMID:Fujinami 2013:23982839}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077937" "" "" "" "1" "" "01695" "{PMID:Kjellström 2014:24453473}" "2-generation family, 2 affected" "F" "?" "" "" "0" "" "" "?" ""
"00077938" "" "" "" "1" "" "01695" "{PMID:Kjellström 2014:24453473}" "2-generation family, 2 affected" "F" "?" "" "" "0" "" "" "?" ""
"00077939" "" "" "" "1" "" "01695" "{PMID:Kjellström 2014:24453473}" "2-generation family, 4 affected" "M" "?" "Hungary" "" "0" "" "" "?" ""
"00077940" "" "" "" "1" "" "01695" "{PMID:Kjellström 2014:24453473}" "2-generation family, 4 affected" "F" "?" "Hungary" "" "0" "" "" "?" ""
"00077941" "" "" "" "1" "" "01695" "{PMID:Kjellström 2014:24453473}, {PMID:Kjellström 2015:26261413}" "2-generation family, 4 affected" "F" "?" "Hungary" "" "0" "" "" "?" ""
"00077942" "" "" "" "1" "" "01695" "{PMID:Kjellström 2014:24453473}" "2-generation family, 4 affected" "F" "?" "Hungary" "" "0" "" "" "?" ""
"00077943" "" "" "" "1" "" "01695" "{PMID:Kjellström 2014:24453473}" "2-generation family, 2 affected" "F" "?" "" "" "0" "" "" "?" ""
"00077944" "" "" "" "1" "" "01695" "{PMID:Kjellström 2014:24453473}" "2-generation family, 2 affected" "M" "?" "" "" "0" "" "" "?" ""
"00077945" "" "" "" "1" "" "01695" "{PMID:Miraldi 2014:24457364}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077946" "" "" "" "1" "" "01695" "{PMID:Miraldi 2014:24457364}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077947" "" "" "" "1" "" "01695" "{PMID:Miraldi 2014:24457364}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077948" "" "" "" "1" "" "01695" "{PMID:Miraldi 2014:24457364}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077949" "" "" "" "1" "" "01695" "{PMID:Miraldi 2014:24457364}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077950" "" "" "" "1" "" "01695" "{PMID:Miraldi 2014:24457364}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077951" "" "" "" "1" "" "01695" "{PMID:Miraldi 2014:24457364}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077952" "" "" "" "1" "" "01695" "{PMID:Miraldi 2014:24457364}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077953" "" "" "" "1" "" "01695" "{PMID:Miraldi 2014:24457364}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077954" "" "" "" "1" "" "01695" "{PMID:Miraldi 2014:24457364}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077955" "" "" "" "1" "" "01695" "{PMID:Miraldi 2014:24457364}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077956" "" "" "" "1" "" "01695" "{PMID:Miraldi 2014:24457364}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077957" "" "" "" "1" "" "01695" "{PMID:Miraldi 2014:24457364}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077958" "" "" "" "1" "" "01695" "{PMID:Miraldi 2014:24457364}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077959" "" "" "" "1" "" "01695" "{PMID:Miraldi 2014:24457364}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077960" "" "" "" "1" "" "01695" "{PMID:Miraldi 2014:24457364}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077961" "" "" "" "1" "" "01695" "{PMID:Miraldi 2014:24457364}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077962" "" "" "" "1" "" "01695" "{PMID:Miraldi 2014:24457364}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077963" "" "" "" "1" "" "01695" "{PMID:Miraldi 2014:24457364}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077964" "" "" "" "1" "" "01695" "{PMID:Miraldi 2014:24457364}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077965" "" "" "" "1" "" "01695" "{PMID:Miraldi 2014:24457364}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077966" "" "" "" "1" "" "01695" "{PMID:Miraldi 2014:24457364}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077967" "" "" "" "1" "" "01695" "{PMID:Miraldi 2014:24457364}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077968" "" "" "" "1" "" "01695" "{PMID:Miraldi 2014:24457364}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077969" "" "" "" "1" "" "01695" "{PMID:Miraldi 2014:24457364}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077970" "" "" "" "1" "" "01695" "{PMID:Miraldi 2014:24457364}" "" "?" "?" "" "" "0" "" "" "?" ""
"00077971" "" "" "" "1" "" "01695" "{PMID:Jinda 2014:24618324}" "" "M" "?" "Thailand" "" "0" "" "" "?" ""
"00077972" "" "" "" "1" "" "01695" "{PMID:Zhou 2014:24632595}" "2-generation family, two affected" "M" "?" "China" "" "0" "" "" "Henan" ""
"00077973" "" "" "" "1" "" "01695" "{PMID:Zhou 2014:24632595}" "2-generation family, two affected" "F" "?" "China" "" "0" "" "" "Henan" ""
"00077974" "" "" "" "1" "" "01695" "{PMID:Burke 2014:24677105}" "" "M" "?" "" "" "0" "" "" "Thirty-nine patients were of European ancestry and there was one each of African American, Hispanic, and Indian origin." ""
"00077975" "" "" "" "1" "" "01695" "{PMID:Burke 2014:24677105}" "" "M" "?" "" "" "0" "" "" "Thirty-nine patients were of European ancestry and there was one each of African American, Hispanic, and Indian origin." ""
"00077976" "" "" "" "1" "" "01695" "{PMID:Burke 2014:24677105}, {PMID:Duncker 2015:26551331}" "" "F" "?" "" "" "0" "" "" "white" ""
"00077977" "" "" "" "1" "" "01695" "{PMID:Burke 2014:24677105}" "" "M" "?" "" "" "0" "" "" "Thirty-nine patients were of European ancestry and there was one each of African American, Hispanic, and Indian origin." ""
"00077978" "" "" "" "1" "" "01695" "{PMID:Burke 2014:24677105}" "" "M" "?" "" "" "0" "" "" "Thirty-nine patients were of European ancestry and there was one each of African American, Hispanic, and Indian origin." ""
"00077979" "" "" "" "1" "" "01695" "{PMID:Burke 2014:24677105}" "" "M" "?" "" "" "0" "" "" "Thirty-nine patients were of European ancestry and there was one each of African American, Hispanic, and Indian origin." ""
"00077980" "" "" "" "1" "" "01695" "{PMID:Burke 2014:24677105}" "" "F" "?" "" "" "0" "" "" "Thirty-nine patients were of European ancestry and there was one each of African American, Hispanic, and Indian origin." ""
"00077981" "" "" "" "1" "" "01695" "{PMID:Burke 2014:24677105}" "" "M" "?" "" "" "0" "" "" "Thirty-nine patients were of European ancestry and there was one each of African American, Hispanic, and Indian origin." ""
"00077982" "" "" "" "1" "" "01695" "{PMID:Burke 2014:24677105}" "" "F" "?" "" "" "0" "" "" "Thirty-nine patients were of European ancestry and there was one each of African American, Hispanic, and Indian origin." ""
"00077983" "" "" "" "1" "" "01695" "{PMID:Burke 2014:24677105}" "" "M" "?" "" "" "0" "" "" "Thirty-nine patients were of European ancestry and there was one each of African American, Hispanic, and Indian origin." ""
"00077984" "" "" "" "1" "" "01695" "{PMID:Burke 2014:24677105}" "" "F" "?" "" "" "0" "" "" "Thirty-nine patients were of European ancestry and there was one each of African American, Hispanic, and Indian origin." ""
"00077985" "" "" "" "1" "" "01695" "{PMID:Burke 2014:24677105}" "" "M" "?" "" "" "0" "" "" "Thirty-nine patients were of European ancestry and there was one each of African American, Hispanic, and Indian origin." ""
"00077986" "" "" "" "1" "" "01695" "{PMID:Burke 2014:24677105}" "" "M" "?" "" "" "0" "" "" "Thirty-nine patients were of European ancestry and there was one each of African American, Hispanic, and Indian origin." ""
"00077987" "" "" "" "1" "" "01695" "{PMID:Burke 2014:24677105}" "" "F" "?" "" "" "0" "" "" "Thirty-nine patients were of European ancestry and there was one each of African American, Hispanic, and Indian origin." ""
"00077988" "" "" "" "1" "" "01695" "{PMID:Burke 2014:24677105}" "" "F" "?" "" "" "0" "" "" "Thirty-nine patients were of European ancestry and there was one each of African American, Hispanic, and Indian origin." ""
"00077989" "" "" "" "1" "" "01695" "{PMID:Burke 2014:24677105}" "" "F" "?" "" "" "0" "" "" "Thirty-nine patients were of European ancestry and there was one each of African American, Hispanic, and Indian origin." ""
"00077990" "" "" "" "1" "" "01695" "{PMID:Burke 2014:24677105}" "" "M" "?" "" "" "0" "" "" "Thirty-nine patients were of European ancestry and there was one each of African American, Hispanic, and Indian origin." ""
"00077991" "" "" "" "1" "" "01695" "{PMID:Burke 2014:24677105}" "" "M" "?" "" "" "0" "" "" "Thirty-nine patients were of European ancestry and there was one each of African American, Hispanic, and Indian origin." ""
"00077992" "" "" "" "1" "" "01695" "{PMID:Burke 2014:24677105}" "" "M" "?" "" "" "0" "" "" "Thirty-nine patients were of European ancestry and there was one each of African American, Hispanic, and Indian origin." ""
"00077993" "" "" "" "1" "" "01695" "{PMID:Burke 2014:24677105}" "" "F" "?" "" "" "0" "" "" "Thirty-nine patients were of European ancestry and there was one each of African American, Hispanic, and Indian origin." ""
"00077994" "" "" "" "1" "" "01695" "{PMID:Burke 2014:24677105}, {PMID:Duncker 2015:26551331}" "" "F" "?" "" "" "0" "" "" "white" ""
"00077995" "" "" "" "1" "" "01695" "{PMID:Burke 2014:24677105}" "" "M" "?" "" "" "0" "" "" "Thirty-nine patients were of European ancestry and there was one each of African American, Hispanic, and Indian origin." ""
"00077996" "" "" "" "1" "" "01695" "{PMID:Burke 2014:24677105}" "" "F" "?" "" "" "0" "" "" "Thirty-nine patients were of European ancestry and there was one each of African American, Hispanic, and Indian origin." ""
"00077997" "" "" "" "1" "" "01695" "{PMID:Burke 2014:24677105}" "" "F" "?" "" "" "0" "" "" "Thirty-nine patients were of European ancestry and there was one each of African American, Hispanic, and Indian origin." ""
"00077998" "" "" "" "1" "" "01695" "{PMID:Burke 2014:24677105}" "" "F" "?" "" "" "0" "" "" "Thirty-nine patients were of European ancestry and there was one each of African American, Hispanic, and Indian origin." ""
"00077999" "" "" "" "1" "" "01695" "{PMID:Burke 2014:24677105}" "" "M" "?" "" "" "0" "" "" "Thirty-nine patients were of European ancestry and there was one each of African American, Hispanic, and Indian origin." ""
"00078000" "" "" "" "1" "" "01695" "{PMID:Burke 2014:24677105}" "" "F" "?" "" "" "0" "" "" "Thirty-nine patients were of European ancestry and there was one each of African American, Hispanic, and Indian origin." ""
"00078001" "" "" "" "1" "" "01695" "{PMID:Burke 2014:24677105}" "" "F" "?" "" "" "0" "" "" "Thirty-nine patients were of European ancestry and there was one each of African American, Hispanic, and Indian origin." ""
"00078002" "" "" "" "1" "" "01695" "{PMID:Burke 2014:24677105}, {PMID:Duncker 2015:26024099}" "" "F" "?" "" "" "0" "" "" "white" ""
"00078003" "" "" "" "1" "" "01695" "{PMID:Burke 2014:24677105}" "" "F" "?" "" "" "0" "" "" "Thirty-nine patients were of European ancestry and there was one each of African American, Hispanic, and Indian origin." ""
"00078004" "" "" "" "1" "" "01695" "{PMID:Burke 2014:24677105}" "" "F" "?" "" "" "0" "" "" "Thirty-nine patients were of European ancestry and there was one each of African American, Hispanic, and Indian origin." ""
"00078005" "" "" "" "1" "" "01695" "{PMID:Burke 2014:24677105}" "" "M" "?" "" "" "0" "" "" "Thirty-nine patients were of European ancestry and there was one each of African American, Hispanic, and Indian origin." ""
"00078006" "" "" "" "1" "" "01695" "{PMID:Burke 2014:24677105}" "" "M" "?" "" "" "0" "" "" "Thirty-nine patients were of European ancestry and there was one each of African American, Hispanic, and Indian origin." ""
"00078007" "" "" "" "1" "" "01695" "{PMID:Burke 2014:24677105}" "" "M" "?" "" "" "0" "" "" "Thirty-nine patients were of European ancestry and there was one each of African American, Hispanic, and Indian origin." ""
"00078008" "" "" "" "1" "" "01695" "{PMID:Burke 2014:24677105}" "" "M" "?" "" "" "0" "" "" "Thirty-nine patients were of European ancestry and there was one each of African American, Hispanic, and Indian origin." ""
"00078009" "" "" "" "1" "" "01695" "{PMID:Burke 2014:24677105}, {PMID:Nõupuu 2014:25301883}" "" "F" "?" "" "" "0" "" "" "Thirty-nine patients were of European ancestry and there was one each of African American, Hispanic, and Indian origin." ""
"00078010" "" "" "" "1" "" "01695" "{PMID:Burke 2014:24677105}" "" "F" "?" "" "" "0" "" "" "Thirty-nine patients were of European ancestry and there was one each of African American, Hispanic, and Indian origin." ""
"00078011" "" "" "" "1" "" "01695" "{PMID:Burke 2014:24677105}" "" "F" "?" "" "" "0" "" "" "Thirty-nine patients were of European ancestry and there was one each of African American, Hispanic, and Indian origin." ""
"00078012" "" "" "" "1" "" "01695" "{PMID:Burke 2014:24677105}, {PMID:Duncker 2015:26551331}" "" "F" "?" "" "" "0" "" "" "white" ""
"00078013" "" "" "" "1" "" "01695" "{PMID:Zernant 2014:25082829}" "" "M" "yes" "" "" "0" "" "" "USA, Spain, Italy or Denmark" ""
"00078014" "" "" "" "1" "" "01695" "{PMID:Zernant 2014:25082829}" "" "M" "?" "" "" "0" "" "" "USA, Spain, Italy or Denmark" ""
"00078015" "" "" "" "1" "" "01695" "{PMID:Zernant 2014:25082829}" "2-generation family, 2 affected" "M" "yes" "" "" "0" "" "" "USA, Spain, Italy or Denmark" ""
"00078016" "" "" "" "1" "" "01695" "{PMID:Zernant 2014:25082829}" "" "M" "?" "" "" "0" "" "" "USA, Spain, Italy or Denmark" ""
"00078017" "" "" "" "1" "" "01695" "{PMID:Zernant 2014:25082829}, {PMID:Duncker 2015:26551331}" "" "M" "?" "" "" "0" "" "" "Indian" ""
"00078018" "" "" "" "1" "" "01695" "{PMID:Zernant 2014:25082829}" "" "M" "?" "" "" "0" "" "" "USA, Spain, Italy or Denmark" ""
"00078019" "" "" "" "1" "" "01695" "{PMID:Nõupuu 2014:25301883}, {PMID:Duncker 2015:26551331}" "Sibling of P2." "F" "?" "" "" "0" "" "" "white" ""
"00078020" "" "" "" "1" "" "01695" "{PMID:Nõupuu 2014:25301883}, {PMID:Duncker 2015:26551331}" "Sibling of (P)1." "F" "?" "" "" "0" "" "" "white" ""
"00078021" "" "" "" "1" "" "01695" "{PMID:Nõupuu 2014:25301883}" "Sibling of P4." "M" "?" "" "" "0" "" "" "?" ""
"00078022" "" "" "" "1" "" "01695" "{PMID:Nõupuu 2014:25301883}" "Sibling of P3." "M" "?" "" "" "0" "" "" "?" ""
"00078023" "" "" "" "1" "" "01695" "{PMID:Nõupuu 2014:25301883}" "Sibling of P6." "F" "?" "" "" "0" "" "" "?" ""
"00078024" "" "" "" "1" "" "01695" "{PMID:Nõupuu 2014:25301883}" "Sibling of P5." "F" "?" "" "" "0" "" "" "?" ""
"00078025" "" "" "" "1" "" "01695" "{PMID:Nõupuu 2014:25301883}" "Sibling of P8." "F" "?" "" "" "0" "" "" "?" ""
"00078026" "" "" "" "1" "" "01695" "{PMID:Nõupuu 2014:25301883}" "Sibling of P7." "F" "?" "" "" "0" "" "" "?" ""
"00078027" "" "" "" "1" "" "01695" "{PMID:Nõupuu 2014:25301883}, {PMID:Duncker 2015:26551331}" "" "F" "?" "" "" "0" "" "" "white" ""
"00078028" "" "" "" "1" "" "01695" "{PMID:Nõupuu 2014:25301883}" "" "F" "?" "" "" "0" "" "" "?" ""
"00078029" "" "" "" "1" "" "01695" "{PMID:Nõupuu 2014:25301883}" "" "M" "?" "" "" "0" "" "" "?" ""
"00078030" "" "" "" "1" "" "01695" "{PMID:Nõupuu 2014:25301883}" "" "F" "?" "" "" "0" "" "" "?" ""
"00078031" "" "" "" "1" "" "01695" "{PMID:Nõupuu 2014:25301883}, {PMID:Duncker 2015:25283059}" "" "M" "?" "" "" "0" "" "" "white" ""
"00078032" "" "" "" "1" "" "01695" "{PMID:Nõupuu 2014:25301883}" "" "F" "?" "" "" "0" "" "" "?" ""
"00078033" "" "" "" "1" "" "01695" "{PMID:Nõupuu 2014:25301883}" "" "F" "?" "" "" "0" "" "" "?" ""
"00078034" "" "" "" "1" "" "01695" "{PMID:Nõupuu 2014:25301883}" "" "M" "?" "" "" "0" "" "" "?" ""
"00078035" "" "" "" "1" "" "01695" "{PMID:Nõupuu 2014:25301883}" "As these mutations are frequently found together, they were assumed to lie on the same chromosome." "F" "?" "" "" "0" "" "" "?" ""
"00078036" "" "" "" "1" "" "01695" "{PMID:Nõupuu 2014:25301883}" "" "F" "?" "" "" "0" "" "" "?" ""
"00078037" "" "" "" "1" "" "01695" "{PMID:Nõupuu 2014:25301883}" "" "F" "?" "" "" "0" "" "" "?" ""
"00078038" "" "" "" "1" "" "01695" "{PMID:Nõupuu 2014:25301883}" "" "M" "?" "" "" "0" "" "" "?" ""
"00078039" "" "" "" "1" "" "01695" "{PMID:Nõupuu 2014:25301883}" "" "F" "?" "" "" "0" "" "" "?" ""
"00078040" "" "" "" "1" "" "01695" "{PMID:Nõupuu 2014:25301883}" "" "M" "?" "" "" "0" "" "" "?" ""
"00078041" "" "" "" "1" "" "01695" "{PMID:Nõupuu 2014:25301883}" "" "F" "?" "" "" "0" "" "" "?" ""
"00078042" "" "" "" "1" "" "01695" "{PMID:Nõupuu 2014:25301883}" "" "M" "?" "" "" "0" "" "" "?" ""
"00078043" "" "" "" "1" "" "01695" "{PMID:Nõupuu 2014:25301883}, {PMID:Duncker 2015:26551331}" "" "M" "?" "India" "" "0" "" "" "?" ""
"00078044" "" "" "" "1" "" "01695" "{PMID:Nõupuu 2014:25301883}, {PMID:Duncker 2015:25283059}" "" "M" "?" "" "" "0" "" "" "white" ""
"00078045" "" "" "" "1" "" "01695" "{PMID:Nõupuu 2014:25301883}" "" "F" "?" "" "" "0" "" "" "?" ""
"00078046" "" "" "" "1" "" "01695" "{PMID:Nõupuu 2014:25301883}" "" "M" "?" "" "" "0" "" "" "?" ""
"00078047" "" "" "" "1" "" "01695" "{PMID:Nõupuu 2014:25301883}" "" "M" "?" "" "" "0" "" "" "?" ""
"00078048" "" "" "" "1" "" "01695" "{PMID:Nõupuu 2014:25301883}" "" "F" "?" "" "" "0" "" "" "?" ""
"00078049" "" "" "" "1" "" "01695" "{PMID:Nõupuu 2014:25301883}, {PMID:Duncker 2015:26551331}" "" "M" "?" "" "" "0" "" "" "white" ""
"00078050" "" "" "" "1" "" "01695" "{PMID:Nõupuu 2014:25301883}" "" "F" "?" "" "" "0" "" "" "?" ""
"00078051" "" "" "" "1" "" "01695" "{PMID:Nõupuu 2014:25301883}" "" "M" "?" "" "" "0" "" "" "?" ""
"00078052" "" "" "" "1" "" "01695" "{PMID:Nõupuu 2014:25301883}" "" "F" "?" "" "" "0" "" "" "?" ""
"00078053" "" "" "" "1" "" "01695" "{PMID:Nõupuu 2014:25301883}" "" "F" "?" "" "" "0" "" "" "?" ""
"00078054" "" "" "" "1" "" "01695" "{PMID:Nõupuu 2014:25301883}" "" "F" "?" "" "" "0" "" "" "?" ""
"00078055" "" "" "" "1" "" "01695" "{PMID:Nõupuu 2014:25301883}" "" "M" "?" "" "" "0" "" "" "?" ""
"00078056" "" "" "" "1" "" "01695" "{PMID:Nõupuu 2014:25301883}" "" "M" "?" "" "" "0" "" "" "?" ""
"00078057" "" "" "" "1" "" "01695" "{PMID:Nõupuu 2014:25301883}" "" "M" "?" "" "" "0" "" "" "?" ""
"00078058" "" "" "" "1" "" "01695" "{PMID:Nõupuu 2014:25301883}, {PMID:Duncker 2015:25283059}" "" "M" "?" "" "" "0" "" "" "white" ""
"00078059" "" "" "" "1" "" "01695" "{PMID:Nõupuu 2014:25301883}" "" "M" "?" "" "" "0" "" "" "?" ""
"00078060" "" "" "" "1" "" "01695" "{PMID:Nõupuu 2014:25301883}" "" "F" "?" "" "" "0" "" "" "?" ""
"00078061" "" "" "" "1" "" "01695" "{PMID:Nõupuu 2014:25301883}" "" "M" "?" "" "" "0" "" "" "?" ""
"00078062" "" "" "" "1" "" "01695" "{PMID:Nõupuu 2014:25301883}" "" "F" "?" "" "" "0" "" "" "?" ""
"00078063" "" "" "" "1" "" "01695" "{PMID:Bauwens 2014:25346251}" "4-generation family, 2 affected" "M" "?" "Belgium" "" "0" "" "" "?" ""
"00078064" "" "" "" "1" "" "01695" "{PMID:Bauwens 2014:25346251}" "2-generation family, 2 affected" "M" "?" "Belgium" "" "0" "" "" "?" ""
"00078065" "" "" "" "1" "" "01695" "{PMID:Bauwens 2014:25346251}" "2-generation family, 2 affected" "M" "?" "Belgium" "" "0" "" "" "?" ""
"00078066" "" "" "" "1" "" "01695" "{PMID:Bauwens 2014:25346251}" "" "F" "?" "Belgium" "" "0" "" "" "?" ""
"00078067" "" "" "" "1" "" "01695" "{PMID:Bauwens 2014:25346251}" "" "M" "?" "Belgium" "" "0" "" "" "?" ""
"00078068" "" "" "" "1" "" "01695" "{PMID:Bauwens 2014:25346251}" "4-generation family, 2 affected" "F" "?" "Belgium" "" "0" "" "" "" ""
"00078069" "" "" "" "1" "" "01695" "{PMID:Bauwens 2014:25346251}" "4-generation family, 2 affected" "F" "?" "Belgium" "" "0" "" "" "?" ""
"00078070" "" "" "" "1" "" "01695" "{PMID:Bauwens 2014:25346251}" "" "M" "?" "Belgium" "" "0" "" "" "?" ""
"00078071" "" "" "" "1" "" "01695" "{PMID:Bauwens 2014:25346251}" "" "M" "?" "Belgium" "" "0" "" "" "?" ""
"00078072" "" "" "" "1" "" "01695" "{PMID:Bauwens 2014:25346251}" "" "M" "?" "Belgium" "" "0" "" "" "?" ""
"00078073" "" "" "" "1" "" "01695" "{PMID:Bauwens 2014:25346251}" "" "M" "?" "Belgium" "" "0" "" "" "?" ""
"00078074" "" "" "" "1" "" "01695" "{PMID:Bauwens 2014:25346251}" "" "F" "?" "Belgium" "" "0" "" "" "?" ""
"00078075" "" "" "" "1" "" "01695" "{PMID:Bauwens 2014:25346251}" "" "M" "?" "Belgium" "" "0" "" "" "?" ""
"00078076" "" "" "" "1" "" "01695" "{PMID:Bauwens 2014:25346251}" "4-generation family, 2 affected" "F" "?" "Belgium" "" "0" "" "" "?" ""
"00078077" "" "" "" "1" "" "01695" "{PMID:Bauwens 2014:25346251}" "4-generation family, 2 affected" "F" "?" "Belgium" "" "0" "" "" "?" ""
"00078078" "" "" "" "1" "" "01695" "{PMID:Bauwens 2014:25346251}" "" "M" "?" "Belgium" "" "0" "" "" "?" ""
"00078079" "" "" "" "1" "" "01695" "{PMID:Bauwens 2014:25346251}" "" "F" "?" "Belgium" "" "0" "" "" "?" ""
"00078080" "" "" "" "1" "" "01695" "{PMID:Bauwens 2014:25346251}" "" "F" "?" "Belgium" "" "0" "" "" "?" ""
"00078081" "" "" "" "1" "" "01695" "{PMID:Bauwens 2014:25346251}" "" "M" "?" "Belgium" "" "0" "" "" "?" ""
"00078082" "" "" "" "1" "" "01695" "{PMID:Bauwens 2014:25346251}" "" "F" "?" "Belgium" "" "0" "" "" "?" ""
"00078083" "" "" "" "1" "" "01695" "{PMID:Bauwens 2014:25346251}" "" "F" "?" "Belgium" "" "0" "" "" "?" ""
"00078084" "" "" "" "1" "" "01695" "{PMID:Bauwens 2014:25346251}" "" "?" "?" "Germany" "" "0" "" "" "?" ""
"00078085" "" "" "" "1" "" "01695" "{PMID:Bauwens 2014:25346251}" "" "?" "?" "Germany" "" "0" "" "" "?" ""
"00078086" "" "" "" "1" "" "01695" "{PMID:Bauwens 2014:25346251}" "" "?" "?" "Germany" "" "0" "" "" "?" ""
"00078087" "" "" "" "1" "" "01695" "{PMID:Bauwens 2014:25346251}" "" "?" "?" "Germany" "" "0" "" "" "?" ""
"00078088" "" "" "" "1" "" "01695" "{PMID:Bauwens 2014:25346251}" "" "?" "?" "Germany" "" "0" "" "" "?" ""
"00078089" "" "" "" "1" "" "01695" "{PMID:Bauwens 2014:25346251}" "" "?" "?" "Germany" "" "0" "" "" "?" ""
"00078090" "" "" "" "1" "" "01695" "{PMID:Bauwens 2014:25346251}" "" "?" "?" "Germany" "" "0" "" "" "?" ""
"00078091" "" "" "" "1" "" "01695" "{PMID:Bauwens 2014:25346251}" "" "?" "?" "Germany" "" "0" "" "" "?" ""
"00078092" "" "" "" "1" "" "01695" "{PMID:Bauwens 2014:25346251}" "" "?" "?" "Germany" "" "0" "" "" "?" ""
"00078093" "" "" "" "1" "" "01695" "{PMID:Bauwens 2014:25346251}" "" "?" "?" "Germany" "" "0" "" "" "?" ""
"00078094" "" "" "" "1" "" "01695" "{PMID:Bauwens 2014:25346251}" "" "?" "?" "Germany" "" "0" "" "" "?" ""
"00078095" "" "" "" "1" "" "01695" "{PMID:Bauwens 2014:25346251}" "" "?" "?" "Germany" "" "0" "" "" "?" ""
"00078096" "" "" "" "1" "" "01695" "{PMID:Bauwens 2014:25346251}" "" "?" "?" "Germany" "" "0" "" "" "?" ""
"00078097" "" "" "" "1" "" "01695" "{PMID:Bauwens 2014:25346251}" "" "?" "?" "Germany" "" "0" "" "" "?" ""
"00078098" "" "" "" "1" "" "01695" "{PMID:Bauwens 2014:25346251}" "" "?" "?" "Germany" "" "0" "" "" "?" ""
"00078099" "" "" "" "1" "" "01695" "{PMID:Bauwens 2014:25346251}" "" "?" "?" "Germany" "" "0" "" "" "?" ""
"00078100" "" "" "" "1" "" "01695" "{PMID:Bauwens 2014:25346251}" "" "?" "?" "Germany" "" "0" "" "" "?" ""
"00078101" "" "" "" "1" "" "01695" "{PMID:Bauwens 2014:25346251}" "" "?" "?" "Germany" "" "0" "" "" "?" ""
"00078102" "" "" "" "1" "" "01695" "{PMID:Bauwens 2014:25346251}" "" "?" "?" "Germany" "" "0" "" "" "?" ""
"00078103" "" "" "" "1" "" "01695" "{PMID:Bauwens 2014:25346251}" "" "?" "?" "Germany" "" "0" "" "" "?" ""
"00078104" "" "" "" "1" "" "01695" "{PMID:Bauwens 2014:25346251}" "" "?" "?" "Germany" "" "0" "" "" "?" ""
"00078105" "" "" "" "1" "" "01695" "{PMID:Bauwens 2014:25346251}" "" "?" "?" "Germany" "" "0" "" "" "?" ""
"00078106" "" "" "" "1" "" "01695" "{PMID:Bauwens 2014:25346251}" "" "?" "?" "Germany" "" "0" "" "" "?" ""
"00078107" "" "" "" "1" "" "01695" "{PMID:Bauwens 2014:25346251}" "" "?" "?" "Germany" "" "0" "" "" "?" ""
"00078108" "" "" "" "1" "" "01695" "{PMID:Bauwens 2014:25346251}" "" "?" "?" "Germany" "" "0" "" "" "?" ""
"00078109" "" "" "" "1" "" "01695" "{PMID:Bauwens 2014:25346251}" "" "?" "?" "Germany" "" "0" "" "" "?" ""
"00078110" "" "" "" "1" "" "01695" "{PMID:Bauwens 2014:25346251}" "" "?" "?" "Germany" "" "0" "" "" "?" ""
"00078111" "" "" "" "1" "" "01695" "{PMID:Bauwens 2014:25346251}" "" "?" "?" "Germany" "" "0" "" "" "?" ""
"00078112" "" "" "" "1" "" "01695" "{PMID:Bauwens 2014:25346251}" "" "?" "?" "Germany" "" "0" "" "" "?" ""
"00078113" "" "" "" "1" "" "01695" "{PMID:Bauwens 2014:25346251}" "" "?" "?" "Germany" "" "0" "" "" "?" ""
"00078114" "" "" "" "1" "" "01695" "{PMID:Bauwens 2014:25346251}" "" "?" "?" "Germany" "" "0" "" "" "?" ""
"00078115" "" "" "" "1" "" "01695" "{PMID:Bauwens 2014:25346251}" "" "?" "?" "Germany" "" "0" "" "" "?" ""
"00078116" "" "" "" "1" "" "01695" "{PMID:Bauwens 2014:25346251}" "" "?" "?" "Germany" "" "0" "" "" "?" ""
"00078117" "" "" "" "1" "" "01695" "{PMID:Bauwens 2014:25346251}" "" "?" "?" "Germany" "" "0" "" "" "?" ""
"00078118" "" "" "" "1" "" "01695" "{PMID:Bauwens 2014:25346251}" "" "?" "?" "Germany" "" "0" "" "" "?" ""
"00078119" "" "" "" "1" "" "01695" "{PMID:Bauwens 2014:25346251}" "" "?" "?" "Germany" "" "0" "" "" "?" ""
"00078120" "" "" "" "1" "" "01695" "{PMID:Bauwens 2014:25346251}" "" "?" "?" "Germany" "" "0" "" "" "?" ""
"00078121" "" "" "" "1" "" "01695" "{PMID:Bauwens 2014:25346251}" "" "?" "?" "Germany" "" "0" "" "" "?" ""
"00078122" "" "" "" "1" "" "01695" "{PMID:Bauwens 2014:25346251}" "" "?" "?" "Germany" "" "0" "" "" "?" ""
"00078123" "" "" "" "1" "" "01695" "{PMID:Bauwens 2014:25346251}" "Simplex" "?" "?" "Germany" "" "0" "" "" "?" ""
"00078124" "" "" "" "1" "" "01695" "{PMID:Bauwens 2014:25346251}" "" "?" "?" "Germany" "" "0" "" "" "?" ""
"00078125" "" "" "" "1" "" "01695" "{PMID:Bauwens 2014:25346251}" "Simplex" "?" "?" "Germany" "" "0" "" "" "?" ""
"00078126" "" "" "" "1" "" "01695" "{PMID:Lambertus 2015:25444351}" "These mutations were found together in one patient 3 times (Among +/- 4000 patients). They could therefore be incisas the 656 mutation isn\'t very frequent and was never found with another mutation." "?" "?" "Netherlands" "" "0" "" "" "?" ""
"00078127" "" "" "" "1" "" "01695" "{PMID:Lambertus 2015:25444351}" "" "?" "?" "Netherlands" "" "0" "" "" "?" ""
"00078128" "" "" "" "1" "" "01695" "{PMID:Lambertus 2015:25444351}" "" "?" "?" "Netherlands" "" "0" "" "" "?" ""
"00078129" "" "" "" "1" "" "01695" "{PMID:Lambertus 2015:25444351}" "" "?" "?" "Netherlands" "" "0" "" "" "?" ""
"00078130" "" "" "" "1" "" "01695" "{PMID:Lambertus 2015:25444351}" "" "?" "?" "Netherlands" "" "0" "" "" "?" ""
"00078131" "" "" "" "1" "" "01695" "{PMID:Lambertus 2015:25444351}" "" "?" "?" "Netherlands" "" "0" "" "" "?" ""
"00078132" "" "" "" "1" "" "01695" "{PMID:Lambertus 2015:25444351}" "" "?" "?" "Netherlands" "" "0" "" "" "?" ""
"00078133" "" "" "" "1" "" "01695" "{PMID:Lambertus 2015:25444351}" "" "?" "?" "Netherlands" "" "0" "" "" "?" ""
"00078134" "" "" "" "1" "" "01695" "{PMID:Lambertus 2015:25444351}" "" "?" "?" "Netherlands" "" "0" "" "" "?" ""
"00078135" "" "" "" "1" "" "01695" "{PMID:Lambertus 2015:25444351}" "" "?" "?" "Netherlands" "" "0" "" "" "?" ""
"00078136" "" "" "" "1" "" "01695" "{PMID:Lambertus 2015:25444351}" "" "?" "?" "Netherlands" "" "0" "" "" "?" ""
"00078137" "" "" "" "1" "" "01695" "{PMID:Lambertus 2015:25444351}" "" "?" "?" "Netherlands" "" "0" "" "" "?" ""
"00078138" "" "" "" "1" "" "01695" "{PMID:Lambertus 2015:25444351}" "" "?" "?" "Netherlands" "" "0" "" "" "?" ""
"00078139" "" "" "" "1" "" "01695" "{PMID:Lambertus 2015:25444351}" "" "?" "?" "Netherlands" "" "0" "" "" "?" ""
"00078140" "" "" "" "1" "" "01695" "{PMID:Lambertus 2015:25444351}" "" "?" "?" "Netherlands" "" "0" "" "" "?" ""
"00078141" "" "" "" "1" "" "01695" "{PMID:Lambertus 2015:25444351}" "" "?" "?" "Netherlands" "" "0" "" "" "?" ""
"00078142" "" "" "" "1" "" "01695" "{PMID:Lambertus 2015:25444351}" "" "?" "?" "Netherlands" "" "0" "" "" "?" ""
"00078143" "" "" "" "1" "" "01695" "{PMID:Lambertus 2015:25444351}" "" "?" "?" "Netherlands" "" "0" "" "" "?" ""
"00078144" "" "" "" "1" "" "01695" "{PMID:Lambertus 2015:25444351}" "" "?" "?" "Netherlands" "" "0" "" "" "?" ""
"00078145" "" "" "" "1" "" "01695" "{PMID:Lambertus 2015:25444351}" "" "?" "?" "" "" "0" "" "" "?" ""
"00078146" "" "" "" "1" "" "01695" "{PMID:Lambertus 2015:25444351}" "" "?" "?" "Netherlands" "" "0" "" "" "?" ""
"00078147" "" "" "" "1" "" "01695" "{PMID:Lambertus 2015:25444351}" "" "?" "?" "Netherlands" "" "0" "" "" "?" ""
"00078148" "" "" "" "1" "" "01695" "{PMID:Lambertus 2015:25444351}" "" "?" "?" "Netherlands" "" "0" "" "" "?" ""
"00078149" "" "" "" "1" "" "01695" "{PMID:Lambertus 2015:25444351}" "" "?" "?" "Netherlands" "" "0" "" "" "?" ""
"00078150" "" "" "" "1" "" "01695" "{PMID:Lambertus 2015:25444351}" "" "?" "?" "Netherlands" "" "0" "" "" "?" ""
"00078151" "" "" "" "1" "" "01695" "{PMID:Lambertus 2015:25444351}" "" "?" "?" "Netherlands" "" "0" "" "" "?" ""
"00078152" "" "" "" "1" "" "01695" "{PMID:Lambertus 2015:25444351}" "" "?" "?" "Netherlands" "" "0" "" "" "?" ""
"00078153" "" "" "" "1" "" "01695" "{PMID:Lambertus 2015:25444351}" "" "?" "?" "Netherlands" "" "0" "" "" "?" ""
"00078154" "" "" "" "1" "" "01695" "{PMID:Lambertus 2015:25444351}" "c.6320G>A was also identified in this patient" "?" "?" "Netherlands" "" "0" "" "" "?" ""
"00078155" "" "" "" "1" "" "01695" "{PMID:Lambertus 2015:25444351}" "" "?" "?" "Netherlands" "" "0" "" "" "?" ""
"00078156" "" "" "" "1" "" "01695" "{PMID:Lambertus 2015:25444351}" "" "?" "?" "Netherlands" "" "0" "" "" "?" ""
"00078157" "" "" "" "1" "" "01695" "{PMID:Lambertus 2015:25444351}" "" "?" "?" "Netherlands" "" "0" "" "" "?" ""
"00078158" "" "" "" "1" "" "01695" "{PMID:Lambertus 2015:25444351}" "" "?" "?" "Netherlands" "" "0" "" "" "?" ""
"00078159" "" "" "" "1" "" "01695" "{PMID:Lambertus 2015:25444351}" "" "?" "?" "Netherlands" "" "0" "" "" "?" ""
"00078160" "" "" "" "1" "" "01695" "{PMID:Lambertus 2015:25444351}" "" "?" "?" "Netherlands" "" "0" "" "" "?" ""
"00078161" "" "" "" "1" "" "01695" "{PMID:Lambertus 2015:25444351}" "" "?" "?" "Netherlands" "" "0" "" "" "?" ""
"00078162" "" "" "" "1" "" "01695" "{PMID:Lambertus 2015:25444351}" "" "?" "?" "Poland" "" "0" "" "" "?" ""
"00078163" "" "" "" "1" "" "01695" "{PMID:Lambertus 2015:25444351}" "" "?" "?" "Netherlands" "" "0" "" "" "?" ""
"00078164" "" "" "" "1" "" "01695" "{PMID:Lambertus 2015:25444351}" "" "?" "?" "Netherlands" "" "0" "" "" "?" ""
"00078165" "" "" "" "1" "" "01695" "{PMID:Lambertus 2015:25444351}" "" "?" "?" "Netherlands" "" "0" "" "" "?" ""
"00078166" "" "" "" "1" "" "01695" "{PMID:Lambertus 2015:25444351}" "" "?" "?" "Netherlands" "" "0" "" "" "?" ""
"00078167" "" "" "" "1" "" "01695" "{PMID:Lambertus 2015:25444351}" "" "?" "?" "Iraq" "" "0" "" "" "" ""
"00078168" "" "" "" "1" "" "01695" "{PMID:Lambertus 2015:25444351}" "" "?" "?" "Netherlands" "" "0" "" "" "?" ""
"00078169" "" "" "" "1" "" "01695" "{PMID:Lambertus 2015:25444351}" "" "?" "?" "Netherlands" "" "0" "" "" "?" ""
"00078170" "" "" "" "1" "" "01695" "{PMID:Zaneveld 2015:25474345}" "" "?" "?" "Canada" "" "0" "" "" "Canadian" ""
"00078171" "" "" "" "1" "" "01695" "{PMID:Zaneveld 2015:25474345}" "" "?" "?" "Canada" "" "0" "" "" "French Canadian" ""
"00078172" "" "" "" "1" "" "01695" "{PMID:Zaneveld 2015:25474345}" "" "?" "?" "Canada" "" "0" "" "" "Canadian" ""
"00078173" "" "" "" "1" "" "01695" "{PMID:Zaneveld 2015:25474345}" "" "?" "?" "Canada" "" "0" "" "" "French Canadian" ""
"00078174" "" "" "" "1" "" "01695" "{PMID:Zaneveld 2015:25474345}" "" "?" "?" "Canada" "" "0" "" "" "Canadian" ""
"00078175" "" "" "" "1" "" "01695" "{PMID:Zaneveld 2015:25474345}" "" "?" "?" "Canada" "" "0" "" "" "French Canadian" ""
"00078176" "" "" "" "1" "" "01695" "{PMID:Zaneveld 2015:25474345}" "" "?" "?" "Canada" "" "0" "" "" "Canadian" ""
"00078177" "" "" "" "1" "" "01695" "{PMID:Zaneveld 2015:25474345}" "c.6089 G>A was also identified in this patient" "?" "?" "Canada" "" "0" "" "" "French Canadian" ""
"00078178" "" "" "" "1" "" "01695" "{PMID:Zaneveld 2015:25474345}" "These two mutations were found to lie on the same allele in different patients. Therefore it could be assumed that they are located on the same allele in this patient as well." "?" "?" "Canada" "" "0" "" "" "Canadian" ""
"00078179" "" "" "" "1" "" "01695" "{PMID:Zaneveld 2015:25474345}" "These two mutations were found to lie on the same allele in different patients. Therefore it is assumed they are located on the same allele in this patient as well." "?" "?" "Canada" "" "0" "" "" "Canadian" ""
"00078180" "" "" "" "1" "" "01695" "{PMID:Zaneveld 2015:25474345}" "These two mutations were found to lie on the same allele in different patients. Therefore it could be assumed that they are located on the same allele in this patient as well." "?" "?" "Canada" "" "0" "" "" "French Canadian" ""
"00078181" "" "" "" "1" "" "01695" "{PMID:Zaneveld 2015:25474345}" "" "?" "?" "Canada" "" "0" "" "" "Canadian" ""
"00078182" "" "" "" "1" "" "01695" "{PMID:Zaneveld 2015:25474345}" "c.5882 G>A was also identified in this patient." "?" "?" "Canada" "" "0" "" "" "Canadian" ""
"00078183" "" "" "" "1" "" "01695" "{PMID:Zaneveld 2015:25474345}" "" "?" "?" "Canada" "" "0" "" "" "Canadian" ""
"00078184" "" "" "" "1" "" "01695" "{PMID:Zaneveld 2015:25474345}" "" "?" "?" "Canada" "" "0" "" "" "Canadian" ""
"00078185" "" "" "" "1" "" "01695" "{PMID:Zaneveld 2015:25474345}" "" "?" "?" "Canada" "" "0" "" "" "French Canadian" ""
"00078186" "" "" "" "1" "" "01695" "{PMID:Zaneveld 2015:25474345}" "" "?" "?" "Canada" "" "0" "" "" "Canadian" ""
"00078187" "" "" "" "1" "" "01695" "{PMID:Zaneveld 2015:25474345}" "" "?" "?" "Canada" "" "0" "" "" "Canadian" ""
"00078188" "" "" "" "1" "" "01695" "{PMID:Zaneveld 2015:25474345}" "" "?" "?" "Canada" "" "0" "" "" "Canadian" ""
"00078189" "" "" "" "1" "" "01695" "{PMID:Zaneveld 2015:25474345}" "" "?" "?" "Canada" "" "0" "" "" "Canadian" ""
"00078190" "" "" "" "1" "" "01695" "{PMID:Zaneveld 2015:25474345}" "" "?" "?" "Canada" "" "0" "" "" "Canadian" ""
"00078191" "" "" "" "1" "" "01695" "{PMID:Zaneveld 2015:25474345}" "" "?" "?" "Canada" "" "0" "" "" "Canadian" ""
"00078192" "" "" "" "1" "" "01695" "{PMID:Zaneveld 2015:25474345}" "" "?" "?" "Canada" "" "0" "" "" "Canadian" ""
"00078193" "" "" "" "1" "" "01695" "{PMID:Zaneveld 2015:25474345}" "" "?" "?" "Canada" "" "0" "" "" "Canadian" ""
"00078194" "" "" "" "1" "" "01695" "{PMID:Zaneveld 2015:25474345}" "" "?" "?" "Canada" "" "0" "" "" "Canadian" ""
"00078195" "" "" "" "1" "" "01695" "{PMID:Zaneveld 2015:25474345}" "" "?" "?" "Canada" "" "0" "" "" "Canadian" ""
"00078196" "" "" "" "1" "" "01695" "{PMID:Zaneveld 2015:25474345}" "" "?" "?" "Canada" "" "0" "" "" "Canadian" ""
"00078197" "" "" "" "1" "" "01695" "{PMID:Zaneveld 2015:25474345}" "" "?" "?" "Canada" "" "0" "" "" "Canadian" ""
"00078198" "" "" "" "1" "" "01695" "{PMID:Zaneveld 2015:25474345}" "c.5882 G>A was also identified in this patient. On its own not significantely found more often in published STGD compared to ExAC (p-value 0.89). However, together with other non-significant variants published related to STGD, they are significantly more often in STGD patients." "?" "?" "Canada" "" "0" "" "" "Canadian" ""
"00078199" "" "" "" "1" "" "01695" "{PMID:Zaneveld 2015:25474345}" "" "?" "?" "China" "" "0" "" "" "Chinese" ""
"00078200" "" "" "" "1" "" "01695" "{PMID:Zaneveld 2015:25474345}" "" "?" "?" "China" "" "0" "" "" "Chinese" ""
"00078201" "" "" "" "1" "" "01695" "{PMID:Zaneveld 2015:25474345}" "" "?" "?" "China" "" "0" "" "" "Chinese" ""
"00078202" "" "" "" "1" "" "01695" "{PMID:Zaneveld 2015:25474345}" "" "?" "?" "China" "" "0" "" "" "Chinese" ""
"00078203" "" "" "" "1" "" "01695" "{PMID:Zaneveld 2015:25474345}" "" "?" "?" "China" "" "0" "" "" "Chinese" ""
"00078204" "" "" "" "1" "" "01695" "{PMID:Zaneveld 2015:25474345}" "" "?" "?" "China" "" "0" "" "" "Chinese" ""
"00078205" "" "" "" "1" "" "01695" "{PMID:Zaneveld 2015:25474345}" "" "?" "?" "China" "" "0" "" "" "Chinese" ""
"00078206" "" "" "" "1" "" "01695" "{PMID:Zaneveld 2015:25474345}" "" "?" "?" "China" "" "0" "" "" "Chinese" ""
"00078207" "" "" "" "1" "" "01695" "{PMID:Zaneveld 2015:25474345}" "" "?" "?" "China" "" "0" "" "" "Chinese" ""
"00078208" "" "" "" "1" "" "01695" "{PMID:Zaneveld 2015:25474345}" "" "?" "?" "China" "" "0" "" "" "Chinese" ""
"00078209" "" "" "" "1" "" "01695" "{PMID:Zaneveld 2015:25474345}" "" "?" "?" "China" "" "0" "" "" "Chinese" ""
"00078210" "" "" "" "1" "" "01695" "{PMID:Zaneveld 2015:25474345}" "" "?" "?" "China" "" "0" "" "" "Chinese" ""
"00078211" "" "" "" "1" "" "01695" "{PMID:Zaneveld 2015:25474345}" "" "?" "?" "China" "" "0" "" "" "Chinese" ""
"00078212" "" "" "" "1" "" "01695" "{PMID:Zaneveld 2015:25474345}" "" "?" "?" "China" "" "0" "" "" "Chinese" ""
"00078213" "" "" "" "1" "" "01695" "{PMID:Zaneveld 2015:25474345}" "" "?" "?" "China" "" "0" "" "" "Chinese" ""
"00078214" "" "" "" "1" "" "01695" "{PMID:Zaneveld 2015:25474345}" "" "?" "?" "China" "" "0" "" "" "Chinese" ""
"00078215" "" "" "" "1" "" "01695" "{PMID:Zaneveld 2015:25474345}" "" "?" "?" "China" "" "0" "" "" "Chinese" ""
"00078216" "" "" "" "1" "" "01695" "{PMID:Zaneveld 2015:25474345}" "" "?" "?" "China" "" "0" "" "" "Chinese" ""
"00078217" "" "" "" "1" "" "01695" "{PMID:Zaneveld 2015:25474345}" "" "?" "?" "China" "" "0" "" "" "Chinese" ""
"00078218" "" "" "" "1" "" "01695" "{PMID:Kousal 2014:25640233}" "1-generation family, 2 affected" "M" "?" "Czech Republic" "" "0" "" "" "?" ""
"00078219" "" "" "" "1" "" "01695" "{PMID:Kousal 2014:25640233}" "1-generation family, 2 affected" "M" "?" "Czech Republic" "" "0" "" "" "?" ""
"00078220" "" "" "" "1" "" "01695" "{PMID:Fernandez-San Jose 2015:25698705}" "3-generation family, 2, possibly 3 affected" "M" "?" "Spain" "" "0" "" "" "?" "RP-1875 (1)"
"00078221" "" "" "" "1" "" "01695" "{PMID:Fernandez-San Jose 2015:25698705}" "3-generation family, 2, possibly 3 affected. This patient has both mutations but doesn\'t show signs of the disease (yet)." "F" "?" "Spain" "" "0" "" "" "?" "RP-1875 (2)"
"00078222" "" "" "" "1" "" "01695" "{PMID:Fernandez-San Jose 2015:25698705}" "3-generation family, 2, possibly 3 affected" "F" "?" "Spain" "" "0" "" "" "?" "RP-1875 (3)"
"00078223" "" "" "" "1" "" "01695" "{PMID:Battu 2015:25922843}" "2-generation family, 2 affected" "M" "?" "India" "" "0" "" "" "?" ""
"00078224" "" "" "" "1" "" "01695" "{PMID:Battu 2015:25922843}" "" "M" "?" "India" "" "0" "" "" "?" ""
"00078225" "" "" "" "1" "" "01695" "{PMID:Battu 2015:25922843}" "2-generation family, 2 affected" "M" "?" "India" "" "0" "" "" "?" ""
"00078226" "" "" "" "1" "" "01695" "{PMID:Battu 2015:25922843}" "2-generation family, 2 affected" "M" "?" "India" "" "0" "" "" "?" ""
"00078227" "" "" "" "1" "" "01695" "{PMID:Battu 2015:25922843}" "" "F" "yes" "India" "" "0" "" "" "?" ""
"00078228" "" "" "" "1" "" "01695" "{PMID:Duncker 2015:26024099}" "Mono-zygotic twin, other also affected" "M" "?" "" "" "0" "" "" "White" ""
"00078229" "" "" "" "1" "" "01695" "{PMID:Duncker 2015:26024099}" "Mono-zygotic twin, other also affected" "M" "?" "" "" "0" "" "" "White" ""
"00078230" "" "" "" "1" "" "01695" "{PMID:Duncker 2015:26024099}" "" "F" "?" "" "" "0" "" "" "White" ""
"00078231" "" "" "" "1" "" "01695" "{PMID:Duncker 2015:26024099}" "" "F" "?" "" "" "0" "" "" "White" ""
"00078232" "" "" "" "1" "" "01695" "{PMID:Duncker 2015:26024099}" "" "M" "?" "" "" "0" "" "" "White" ""
"00078233" "" "" "" "1" "" "01695" "{PMID:Duncker 2015:26024099}" "" "F" "?" "" "" "0" "" "" "White" ""
"00078234" "" "" "" "1" "" "01695" "{PMID:Duncker 2015:26024099}" "" "M" "?" "" "" "0" "" "" "Indian" ""
"00078235" "" "" "" "1" "" "01695" "{PMID:Duncker 2015:26024099}" "" "F" "?" "" "" "0" "" "" "White" ""
"00078236" "" "" "" "1" "" "01695" "{PMID:Duncker 2015:26024099}" "" "F" "?" "" "" "0" "" "" "White" ""
"00078237" "" "" "" "1" "" "01695" "{PMID:Duncker 2015:26024099}" "" "F" "?" "" "" "0" "" "" "White" ""
"00078238" "" "" "" "1" "" "01695" "{PMID:Duncker 2015:26024099}" "" "M" "?" "" "" "0" "" "" "White" ""
"00078239" "" "" "" "1" "" "01695" "{PMID:Duncker 2015:26024099}" "" "M" "?" "" "" "0" "" "" "Indian" ""
"00078240" "" "" "" "1" "" "01695" "{PMID:Duncker 2015:26024099}" "" "M" "?" "" "" "0" "" "" "white" ""
"00078241" "" "" "" "1" "" "01695" "{PMID:Duncker 2015:26024099}" "" "F" "?" "" "" "0" "" "" "white" ""
"00078242" "" "" "" "1" "" "01695" "{PMID:Duncker 2015:26024099}" "" "F" "?" "" "" "0" "" "" "white" ""
"00078243" "" "" "" "1" "" "01695" "{PMID:Duncker 2015:26024099}" "" "F" "?" "" "" "0" "" "" "white" ""
"00078244" "" "" "" "1" "" "01695" "{PMID:Duncker 2015:26024099}" "" "F" "?" "" "" "0" "" "" "white" ""
"00078245" "" "" "" "1" "" "01695" "{PMID:Xin 2015:26161775}" "" "F" "?" "China" "" "0" "" "" "?" ""
"00078246" "" "" "" "1" "" "01695" "{PMID:Xin 2015:26161775}" "" "M" "?" "China" "" "0" "" "" "?" ""
"00078247" "" "" "" "1" "" "01695" "{PMID:Xin 2015:26161775}" "3-generation family, 4 affected" "M" "?" "China" "" "0" "" "" "?" ""
"00078248" "" "" "" "1" "" "01695" "{PMID:Xin 2015:26161775}" "" "M" "?" "China" "" "0" "" "" "?" ""
"00078249" "" "" "" "1" "" "01695" "{PMID:Xin 2015:26161775}" "2-generation family, 2 affected" "M" "?" "China" "" "0" "" "" "?" ""
"00078250" "" "" "" "1" "" "01695" "{PMID:Xin 2015:26161775}" "2-generation family, 2 affected" "M" "?" "China" "" "0" "" "" "?" ""
"00078251" "" "" "" "1" "" "01695" "{PMID:Xin 2015:26161775}" "2-generation family, 2 affected" "F" "?" "China" "" "0" "" "" "?" ""
"00078252" "" "" "" "1" "" "01695" "{PMID:Xin 2015:26161775}" "2-generation family, 2 affected" "F" "?" "China" "" "0" "" "" "?" ""
"00078253" "" "" "" "1" "" "01695" "{PMID:Xin 2015:26161775}" "3-generation family, 3 affected" "M" "?" "China" "" "0" "" "" "?" ""
"00078254" "" "" "" "1" "" "01695" "{PMID:Xin 2015:26161775}" "3-generation family, 3 affected" "F" "?" "China" "" "0" "" "" "?" ""
"00078255" "" "" "" "1" "" "01695" "{PMID:Xin 2015:26161775}" "" "F" "?" "China" "" "0" "" "" "?" ""
"00078256" "" "" "" "1" "" "01695" "{PMID:Xin 2015:26161775}" "" "M" "?" "China" "" "0" "" "" "?" ""
"00078257" "" "" "" "1" "" "01695" "{PMID:Xin 2015:26161775}" "2-generation family, 2 affected" "F" "?" "China" "" "0" "" "" "?" ""
"00078258" "" "" "" "1" "" "01695" "{PMID:Xin 2015:26161775}" "2-generation family, 2 affected" "F" "?" "China" "" "0" "" "" "?" ""
"00078259" "" "" "" "1" "" "01695" "{PMID:Xin 2015:26161775}" "2-generation family, 3 affected" "F" "?" "China" "" "0" "" "" "?" ""
"00078260" "" "" "" "1" "" "01695" "{PMID:Xin 2015:26161775}" "2-generation family, 3 affected" "F" "?" "China" "" "0" "" "" "?" ""
"00078261" "" "" "" "1" "" "01695" "{PMID:Xin 2015:26161775}" "2-generation family, 3 affected" "F" "?" "China" "" "0" "" "" "?" ""
"00078262" "" "" "" "1" "" "01695" "{PMID:Xin 2015:26161775}" "" "M" "?" "China" "" "0" "" "" "?" ""
"00078263" "" "" "" "1" "" "01695" "{PMID:Xin 2015:26161775}" "" "M" "?" "China" "" "0" "" "" "?" ""
"00078264" "" "" "" "1" "" "01695" "{PMID:Xin 2015:26161775}" "" "M" "?" "China" "" "0" "" "" "?" ""
"00078265" "" "" "" "1" "" "01695" "{PMID:Xin 2015:26161775}" "" "F" "yes" "China" "" "0" "" "" "?" ""
"00078266" "" "" "" "1" "" "01695" "{PMID:Xin 2015:26161775}" "" "F" "?" "China" "" "0" "" "" "?" ""
"00078267" "" "" "" "1" "" "01695" "{PMID:Xin 2015:26161775}" "" "F" "?" "China" "" "0" "" "" "?" ""
"00078268" "" "" "" "1" "" "01695" "{PMID:Xin 2015:26161775}" "" "M" "?" "China" "" "0" "" "" "?" ""
"00078269" "" "" "" "1" "" "01695" "{PMID:Audere 2015:26229699}" "4-generation family, 2 affected. Also mutations in other genes were found: a heterozygous variant in exon 2 of the NR2E3 gene (c.227G>A, p.R760), and a heterozygous variant in exon 6 of the RGR gene (c.747A>T p.K249N)" "F" "?" "" "" "0" "" "" "?" ""
"00078270" "" "" "" "1" "" "01695" "{PMID:Kjellström 2015:26261413}" "" "F" "?" "" "" "0" "" "" "?" ""
"00078271" "" "" "" "1" "" "01695" "{PMID:Kjellström 2015:26261413}" "" "M" "?" "" "" "0" "" "" "?" ""
"00078272" "" "" "" "1" "" "01695" "{PMID:Kjellström 2015:26261413}" "" "M" "?" "" "" "0" "" "" "?" ""
"00078273" "" "" "" "1" "" "01695" "{PMID:Kjellström 2015:26261413}" "" "F" "?" "" "" "0" "" "" "?" ""
"00078274" "" "" "" "1" "" "01695" "{PMID:Kjellström 2015:26261413}" "" "F" "?" "" "" "0" "" "" "?" ""
"00078275" "" "" "" "1" "" "01695" "{PMID:Kjellström 2015:26261413}" "" "F" "?" "" "" "0" "" "" "?" ""
"00078276" "" "" "" "1" "" "01695" "{PMID:Kjellström 2015:26261413}" "" "M" "?" "" "" "0" "" "" "?" ""
"00078277" "" "" "" "1" "" "01695" "{PMID:Kjellström 2015:26261413}" "" "M" "?" "" "" "0" "" "" "?" ""
"00078278" "" "" "" "1" "" "01695" "{PMID:Kjellström 2015:26261413}" "" "F" "?" "" "" "0" "" "" "?" ""
"00078279" "" "" "" "1" "" "01695" "{PMID:Nõupuu 2015:26311262}" "" "M" "?" "" "" "0" "" "" "white" ""
"00078280" "" "" "" "1" "" "01695" "{PMID:Nõupuu 2015:26311262}" "" "F" "?" "" "" "0" "" "" "white" ""
"00078281" "" "" "" "1" "" "01695" "{PMID:Nõupuu 2015:26311262}" "" "M" "?" "" "" "0" "" "" "African-American" ""
"00078282" "" "" "" "1" "" "01695" "{PMID:Nõupuu 2015:26311262}" "" "F" "?" "" "" "0" "" "" "white" ""
"00078283" "" "" "" "1" "" "01695" "{PMID:Nõupuu 2015:26311262}, {PMID:Duncker 2015:26551331}" "" "F" "?" "" "" "0" "" "" "African-American" ""
"00078284" "" "" "" "1" "" "01695" "{PMID:Nõupuu 2015:26311262}" "" "F" "?" "" "" "0" "" "" "Asian-white" ""
"00078285" "" "" "" "1" "" "01695" "{PMID:Nõupuu 2015:26311262}" "" "M" "?" "" "" "0" "" "" "white" ""
"00078286" "" "" "" "1" "" "01695" "{PMID:Eandi 2014:24585425}" "2-generation family, 2 affected" "M" "yes" "Somalia" "" "0" "" "" "?" ""
"00078287" "" "" "" "1" "" "01695" "{PMID:Nõupuu 2014:25301883}" "2-generation family, 2 affected" "F" "yes" "Somalia" "" "0" "" "" "?" ""
"00078288" "" "" "" "1" "" "01695" "{PMID:Lee 2015:26527198}" "2-generation family, 5 affected" "M" "?" "" "" "0" "" "" "?" ""
"00078289" "" "" "" "1" "" "01695" "{PMID:Lee 2015:26527198}" "2-generation family, 5 affected" "F" "?" "" "" "0" "" "" "?" ""
"00078290" "" "" "" "1" "" "01695" "{PMID:Lee 2015:26527198}" "2-generation family, 5 affected" "M" "?" "" "" "0" "" "" "?" ""
"00078291" "" "" "" "1" "" "01695" "{PMID:Lee 2015:26527198}" "2-generation family, 5 affected" "M" "?" "" "" "0" "" "" "?" ""
"00078292" "" "" "" "1" "" "01695" "{PMID:Lee 2015:26527198}" "2-generation family, 5 affected" "M" "?" "" "" "0" "" "" "?" ""
"00078293" "" "" "" "5" "" "01695" "{PMID:Beheshtian 2015:26497376}" "5-generation family, 5 affected (3F, 2M); 2 affected siblings, one with Stargardt disease, one with Retinitis pigmentosa" "F" "yes" "Iran" "" "0" "" "" "" "9200030/I-39280"
"00078294" "" "" "" "1" "" "01695" "{PMID:Ścieżyńska 2015:26593885}" "?" "?" "?" "" "" "0" "" "" "Poland" ""
"00078295" "" "" "" "1" "" "01695" "{PMID:Ścieżyńska 2015:26593885}" "?" "?" "?" "" "" "0" "" "" "Poland" ""
"00078296" "" "" "" "1" "" "01695" "{PMID:Ścieżyńska 2015:26593885}" "?" "?" "?" "" "" "0" "" "" "Poland" ""
"00078297" "" "" "" "1" "" "01695" "{PMID:Ścieżyńska 2015:26593885}" "?" "?" "?" "" "" "0" "" "" "Poland" ""
"00078298" "" "" "" "1" "" "01695" "{PMID:Ścieżyńska 2015:26593885}" "?" "?" "?" "" "" "0" "" "" "Poland" ""
"00078299" "" "" "" "1" "" "01695" "{PMID:Ścieżyńska 2015:26593885}" "?" "?" "?" "" "" "0" "" "" "Poland" ""
"00078300" "" "" "" "1" "" "01695" "{PMID:Ścieżyńska 2015:26593885}" "?" "?" "?" "" "" "0" "" "" "Poland" ""
"00078301" "" "" "" "1" "" "01695" "{PMID:Ścieżyńska 2015:26593885}" "?" "?" "?" "" "" "0" "" "" "Poland" ""
"00078302" "" "" "" "1" "" "01695" "{PMID:Ścieżyńska 2015:26593885}" "?" "?" "?" "" "" "0" "" "" "Poland" ""
"00078303" "" "" "" "1" "" "01695" "{PMID:Ścieżyńska 2015:26593885}" "?" "?" "?" "" "" "0" "" "" "Poland" ""
"00078304" "" "" "" "1" "" "01695" "{PMID:Ścieżyńska 2015:26593885}" "?" "?" "?" "" "" "0" "" "" "Poland" ""
"00078305" "" "" "" "1" "" "01695" "{PMID:Ścieżyńska 2015:26593885}" "?" "?" "?" "" "" "0" "" "" "Poland" ""
"00078306" "" "" "" "1" "" "01695" "{PMID:Ścieżyńska 2015:26593885}" "?" "?" "?" "" "" "0" "" "" "Poland" ""
"00078307" "" "" "" "1" "" "01695" "{PMID:Ścieżyńska 2015:26593885}" "?" "?" "?" "" "" "0" "" "" "Poland" ""
"00078308" "" "" "" "1" "" "01695" "{PMID:Ścieżyńska 2015:26593885}" "?" "?" "?" "" "" "0" "" "" "Poland" ""
"00078309" "" "" "" "1" "" "01695" "{PMID:Ścieżyńska 2015:26593885}" "?" "?" "?" "" "" "0" "" "" "Poland" ""
"00078310" "" "" "" "1" "" "01695" "{PMID:Ścieżyńska 2015:26593885}" "?" "?" "?" "" "" "0" "" "" "Poland" ""
"00078311" "" "" "" "1" "" "01695" "{PMID:Ścieżyńska 2015:26593885}" "?" "?" "?" "" "" "0" "" "" "Poland" ""
"00078312" "" "" "" "1" "" "01695" "{PMID:Ścieżyńska 2015:26593885}" "?" "?" "?" "" "" "0" "" "" "Poland" ""
"00078313" "" "" "" "1" "" "01695" "{PMID:Ścieżyńska 2015:26593885}" "?" "?" "?" "" "" "0" "" "" "Poland" ""
"00078314" "" "" "" "1" "" "01695" "{PMID:Ścieżyńska 2015:26593885}" "?" "?" "?" "" "" "0" "" "" "Poland" ""
"00078315" "" "" "" "1" "" "01695" "{PMID:Ścieżyńska 2015:26593885}" "?" "?" "?" "" "" "0" "" "" "Poland" ""
"00078316" "" "" "" "1" "" "01695" "{PMID:Ścieżyńska 2015:26593885}" "?" "?" "?" "" "" "0" "" "" "Poland" ""
"00078317" "" "" "" "1" "" "01695" "{PMID:Ścieżyńska 2015:26593885}" "?" "?" "?" "" "" "0" "" "" "Poland" ""
"00078318" "" "" "" "1" "" "01695" "{PMID:Ścieżyńska 2015:26593885}" "?" "?" "?" "" "" "0" "" "" "Poland" ""
"00078319" "" "" "" "1" "" "01695" "{PMID:Ścieżyńska 2015:26593885}" "?" "?" "?" "" "" "0" "" "" "Poland" ""
"00078320" "" "" "" "1" "" "01695" "{PMID:Ścieżyńska 2015:26593885}" "?" "?" "?" "" "" "0" "" "" "Poland" ""
"00078321" "" "" "" "1" "" "01695" "{PMID:Ścieżyńska 2015:26593885}" "?" "?" "?" "" "" "0" "" "" "Poland" ""
"00078322" "" "" "" "1" "" "01695" "{PMID:Ścieżyńska 2015:26593885}" "?" "?" "?" "" "" "0" "" "" "Poland" ""
"00078323" "" "" "" "1" "" "01695" "{PMID:Ścieżyńska 2015:26593885}" "?" "?" "?" "" "" "0" "" "" "Poland" ""
"00078324" "" "" "" "1" "" "01695" "{PMID:Ścieżyńska 2015:26593885}" "?" "?" "?" "" "" "0" "" "" "Poland" ""
"00078325" "" "" "" "1" "" "01695" "{PMID:Ścieżyńska 2015:26593885}" "?" "?" "?" "" "" "0" "" "" "Poland" ""
"00078326" "" "" "" "1" "" "01695" "{PMID:Ścieżyńska 2015:26593885}" "?" "?" "?" "" "" "0" "" "" "Poland" ""
"00078327" "" "" "" "1" "" "01695" "{PMID:Ścieżyńska 2015:26593885}" "?" "?" "?" "" "" "0" "" "" "Poland" ""
"00078328" "" "" "" "1" "" "01695" "{PMID:Ścieżyńska 2015:26593885}" "?" "?" "?" "" "" "0" "" "" "Poland" ""
"00078329" "" "" "" "1" "" "01695" "{PMID:Ścieżyńska 2015:26593885}" "?" "?" "?" "" "" "0" "" "" "Poland" ""
"00078330" "" "" "" "1" "" "01695" "{PMID:Ścieżyńska 2015:26593885}" "?" "?" "?" "" "" "0" "" "" "Poland" ""
"00078331" "" "" "" "1" "" "01695" "{PMID:Ścieżyńska 2015:26593885}" "?" "?" "?" "" "" "0" "" "" "Poland" ""
"00078332" "" "" "" "1" "" "01695" "{PMID:Ścieżyńska 2015:26593885}" "?" "?" "?" "" "" "0" "" "" "Poland" ""
"00078333" "" "" "" "1" "" "01695" "{PMID:Ścieżyńska 2015:26593885}" "?" "?" "?" "" "" "0" "" "" "Poland" ""
"00078334" "" "" "" "1" "" "01695" "{PMID:Ścieżyńska 2015:26593885}" "?" "?" "?" "" "" "0" "" "" "Poland" ""
"00078335" "" "" "" "1" "" "01695" "{PMID:Ścieżyńska 2015:26593885}" "?" "?" "?" "" "" "0" "" "" "Poland" ""
"00078336" "" "" "" "1" "" "01695" "{PMID:Ścieżyńska 2015:26593885}" "?" "?" "?" "" "" "0" "" "" "Poland" ""
"00078337" "" "" "" "1" "" "01695" "{PMID:Ścieżyńska 2015:26593885}" "?" "?" "?" "" "" "0" "" "" "Poland" ""
"00078338" "" "" "" "1" "" "01695" "{PMID:Ścieżyńska 2015:26593885}" "?" "?" "?" "" "" "0" "" "" "Poland" ""
"00078339" "" "" "" "1" "" "01695" "{PMID:Ścieżyńska 2015:26593885}" "?" "?" "?" "" "" "0" "" "" "Poland" ""
"00078340" "" "" "" "1" "" "01695" "{PMID:Ścieżyńska 2015:26593885}" "?" "?" "?" "" "" "0" "" "" "Poland" ""
"00078341" "" "" "" "1" "" "01695" "{PMID:Ścieżyńska 2015:26593885}" "?" "?" "?" "" "" "0" "" "" "Poland" ""
"00078342" "" "" "" "1" "" "01695" "{PMID:Ścieżyńska 2015:26593885}" "?" "?" "?" "" "" "0" "" "" "Poland" ""
"00078343" "" "" "" "1" "" "01695" "{PMID:Ścieżyńska 2015:26593885}" "?" "?" "?" "" "" "0" "" "" "Poland" ""
"00078344" "" "" "" "1" "" "01695" "{PMID:Ścieżyńska 2015:26593885}" "?" "?" "?" "" "" "0" "" "" "Poland" ""
"00078345" "" "" "" "1" "" "01695" "{PMID:Ścieżyńska 2015:26593885}" "?" "?" "?" "" "" "0" "" "" "Poland" ""
"00078346" "" "" "" "1" "" "01695" "{PMID:Ścieżyńska 2015:26593885}" "?" "?" "?" "" "" "0" "" "" "Poland" ""
"00078347" "" "" "" "1" "" "01695" "{PMID:Ścieżyńska 2015:26593885}" "?" "?" "?" "" "" "0" "" "" "Poland" ""
"00078348" "" "" "" "1" "" "01695" "{PMID:Ścieżyńska 2015:26593885}" "?" "?" "?" "" "" "0" "" "" "Poland" ""
"00078349" "" "" "" "1" "" "01695" "{PMID:Ścieżyńska 2015:26593885}" "?" "?" "?" "" "" "0" "" "" "Poland" ""
"00078350" "" "" "" "1" "" "01695" "{PMID:Ścieżyńska 2015:26593885}" "?" "?" "?" "" "" "0" "" "" "Poland" ""
"00078351" "" "" "" "1" "" "01695" "{PMID:Ścieżyńska 2015:26593885}" "?" "?" "?" "" "" "0" "" "" "Poland" ""
"00078352" "" "" "" "1" "" "01695" "{PMID:Ścieżyńska 2015:26593885}" "?" "?" "?" "" "" "0" "" "" "Poland" ""
"00078353" "" "" "" "1" "" "01695" "{PMID:Ścieżyńska 2015:26593885}" "?" "?" "?" "" "" "0" "" "" "Poland" ""
"00078354" "" "" "" "1" "" "01695" "{PMID:Ścieżyńska 2015:26593885}" "?" "?" "?" "" "" "0" "" "" "Poland" ""
"00078355" "" "" "" "1" "" "01695" "{PMID:Ścieżyńska 2015:26593885}" "?" "?" "?" "" "" "0" "" "" "Poland" ""
"00078356" "" "" "" "1" "" "01695" "{PMID:Ścieżyńska 2015:26593885}" "?" "?" "?" "" "" "0" "" "" "Poland" ""
"00078357" "" "" "" "1" "" "01695" "{PMID:Ścieżyńska 2015:26593885}" "?" "?" "?" "" "" "0" "" "" "Poland" ""
"00078358" "" "" "" "1" "" "01695" "{PMID:Ścieżyńska 2015:26593885}" "?" "?" "?" "" "" "0" "" "" "Poland" ""
"00078359" "" "" "" "1" "" "01695" "{PMID:Ścieżyńska 2015:26593885}" "?" "?" "?" "" "" "0" "" "" "Poland" ""
"00078360" "" "" "" "1" "" "01695" "{PMID:Ścieżyńska 2015:26593885}" "?" "?" "?" "" "" "0" "" "" "Poland" ""
"00078361" "" "" "" "1" "" "01695" "{PMID:Ścieżyńska 2015:26593885}" "?" "?" "?" "" "" "0" "" "" "Poland" ""
"00078362" "" "" "" "1" "" "01695" "{PMID:Ścieżyńska 2015:26593885}" "?" "?" "?" "" "" "0" "" "" "Poland" ""
"00078363" "" "" "" "1" "" "01695" "{PMID:Ścieżyńska 2015:26593885}" "?" "?" "?" "" "" "0" "" "" "Poland" ""
"00078364" "" "" "" "1" "" "01695" "{PMID:Ścieżyńska 2015:26593885}" "?" "?" "?" "" "" "0" "" "" "Poland" ""
"00078365" "" "" "" "1" "" "01695" "{PMID:Ścieżyńska 2015:26593885}" "?" "?" "?" "" "" "0" "" "" "Poland" ""
"00078366" "" "" "" "1" "" "01695" "{PMID:Allikmets 1998:9666097}" "?" "?" "?" "" "" "0" "" "" "?" ""
"00078367" "" "" "" "1" "" "01695" "{PMID:Allikmets 1998:9666097}" "?" "?" "?" "" "" "0" "" "" "?" ""
"00078368" "" "" "" "1" "" "01695" "{PMID:Allikmets 1998:9666097}" "?" "?" "?" "" "" "0" "" "" "?" ""
"00078369" "" "" "" "1" "" "01695" "{PMID:Allikmets 1998:9666097}" "?" "?" "?" "" "" "0" "" "" "?" ""
"00078370" "" "" "" "1" "" "01695" "{PMID:Allikmets 1998:9666097}" "?" "?" "?" "" "" "0" "" "" "?" ""
"00078371" "" "" "" "1" "" "01695" "{PMID:Allikmets 1998:9666097}" "?" "?" "?" "" "" "0" "" "" "?" ""
"00078372" "" "" "" "1" "" "01695" "{PMID:Allikmets 1998:9666097}" "?" "?" "?" "" "" "0" "" "" "?" ""
"00078373" "" "" "" "1" "" "01695" "{PMID:Allikmets 1998:9666097}" "?" "?" "?" "" "" "0" "" "" "?" ""
"00078374" "" "" "" "1" "" "01695" "{PMID:Allikmets 1998:9666097}" "?" "?" "?" "" "" "0" "" "" "?" ""
"00078375" "" "" "" "1" "" "01695" "{PMID:Allikmets 1998:9666097}" "?" "?" "?" "" "" "0" "" "" "?" ""
"00078376" "" "" "" "1" "" "01695" "{PMID:Allikmets 1998:9666097}" "?" "?" "?" "" "" "0" "" "" "?" ""
"00078377" "" "" "" "1" "" "01695" "{PMID:Allikmets 1998:9666097}" "?" "?" "?" "" "" "0" "" "" "?" ""
"00078378" "" "" "" "1" "" "01695" "{PMID:Allikmets 1998:9666097}" "?" "?" "?" "" "" "0" "" "" "?" ""
"00078379" "" "" "" "1" "" "01695" "{PMID:Allikmets 1998:9666097}" "?" "?" "?" "" "" "0" "" "" "?" ""
"00078380" "" "" "" "1" "" "01695" "{PMID:Allikmets 1998:9666097}" "?" "?" "?" "" "" "0" "" "" "?" ""
"00078381" "" "" "" "1" "" "01695" "{PMID:Allikmets 1998:9666097}" "?" "?" "?" "" "" "0" "" "" "?" ""
"00078382" "" "" "" "1" "" "01695" "{PMID:Allikmets 1998:9666097}" "?" "?" "?" "" "" "0" "" "" "?" ""
"00078383" "" "" "" "1" "" "01695" "{PMID:Allikmets 1998:9666097}" "?" "?" "?" "" "" "0" "" "" "?" ""
"00078384" "" "" "" "1" "" "01695" "{PMID:Allikmets 1998:9666097}" "?" "?" "?" "" "" "0" "" "" "?" ""
"00078385" "" "" "" "1" "" "01695" "{PMID:Allikmets 1998:9666097}" "?" "?" "?" "" "" "0" "" "" "?" ""
"00078386" "" "" "" "1" "" "01695" "{PMID:Allikmets 1998:9666097}" "?" "?" "?" "" "" "0" "" "" "?" ""
"00078387" "" "" "" "1" "" "01695" "{PMID:Allikmets 1998:9666097}" "?" "?" "?" "" "" "0" "" "" "?" ""
"00078388" "" "" "" "1" "" "01695" "{PMID:Allikmets 1998:9666097}" "?" "?" "?" "" "" "0" "" "" "?" ""
"00078389" "" "" "" "1" "" "01695" "{PMID:Allikmets 1998:9666097}" "?" "?" "?" "" "" "0" "" "" "?" ""
"00078390" "" "" "" "1" "" "01695" "{PMID:Allikmets 1998:9666097}" "?" "?" "?" "" "" "0" "" "" "?" ""
"00078391" "" "" "" "1" "" "01695" "{PMID:Allikmets 1998:9666097}" "?" "?" "?" "" "" "0" "" "" "?" ""
"00078392" "" "" "" "1" "" "01695" "{PMID:Allikmets 1998:9666097}" "?" "?" "?" "" "" "0" "" "" "?" ""
"00078393" "" "" "" "1" "" "01695" "{PMID:Allikmets 1998:9666097}" "?" "?" "?" "" "" "0" "" "" "?" ""
"00078394" "" "" "" "1" "" "01695" "{PMID:Siemiatkowska 2011:22128245}" "?" "F" "yes" "Indonesia" "" "0" "" "" "?" ""
"00078395" "" "" "" "1" "" "01695" "{PMID:Siemiatkowska 2011:22128245}" "?" "M" "yes" "Indonesia" "" "0" "" "" "?" ""
"00078396" "" "" "" "1" "" "01695" "{PMID:Duncker 2015:26551331}, {PMID:Duncker 2015:25283059}" "?" "F" "?" "" "" "0" "" "" "white" ""
"00078397" "" "" "" "1" "" "01695" "{PMID:Duncker 2015:26551331}" "?" "M" "?" "" "" "0" "" "" "white" ""
"00078398" "" "" "" "1" "" "01695" "{PMID:Duncker 2015:26551331}" "?" "M" "?" "" "" "0" "" "" "Black" ""
"00078399" "" "" "" "1" "" "01695" "{PMID:Duncker 2015:26551331}" "?" "F" "?" "" "" "0" "" "" "white" ""
"00078400" "" "" "" "1" "" "01695" "{PMID:Duncker 2015:26551331}" "?" "M" "?" "" "" "0" "" "" "white" ""
"00078401" "" "" "" "1" "" "01695" "{PMID:Duncker 2015:26551331}" "?" "M" "?" "" "" "0" "" "" "Indian" ""
"00078402" "" "" "" "1" "" "01695" "{PMID:Duncker 2015:26551331}" "?" "M" "?" "" "" "0" "" "" "white" ""
"00078403" "" "" "" "1" "" "01695" "{PMID:Duncker 2015:26551331}" "?" "F" "?" "" "" "0" "" "" "white" ""
"00078404" "" "" "" "1" "" "01695" "{PMID:Duncker 2015:26551331}" "?" "F" "?" "" "" "0" "" "" "Black" ""
"00078405" "" "" "" "1" "" "01695" "{PMID:Duncker 2015:26551331}" "?" "F" "?" "" "" "0" "" "" "Hispanic" ""
"00078406" "" "" "" "1" "" "01695" "{PMID:Duncker 2015:26551331}" "?" "F" "?" "" "" "0" "" "" "white" ""
"00078407" "" "" "" "1" "" "01695" "{PMID:Duncker 2015:26551331}" "?" "M" "?" "" "" "0" "" "" "white" ""
"00078408" "" "" "" "1" "" "01695" "{PMID:Duncker 2015:26551331}" "?" "M" "?" "" "" "0" "" "" "white" ""
"00078409" "" "" "" "1" "" "01695" "{PMID:Duncker 2015:26551331}" "?" "F" "?" "" "" "0" "" "" "white" ""
"00078410" "" "" "" "1" "" "01695" "{PMID:Duncker 2015:26551331}" "?" "F" "?" "" "" "0" "" "" "white" ""
"00078411" "" "" "" "1" "" "01695" "{PMID:Duncker 2015:26551331}" "?" "F" "?" "" "" "0" "" "" "Black" ""
"00078412" "" "" "" "1" "" "01695" "{PMID:Duncker 2015:26551331}" "?" "F" "?" "" "" "0" "" "" "white" ""
"00078413" "" "" "" "1" "" "01695" "{PMID:Duncker 2015:26551331}" "" "F" "?" "" "" "0" "" "" "Hispanic" ""
"00078414" "" "" "" "1" "" "01695" "{PMID:Duncker 2015:26551331}" "?" "M" "?" "" "" "0" "" "" "white" ""
"00078415" "" "" "" "1" "" "01695" "{PMID:Duncker 2015:26551331}" "?" "F" "?" "" "" "0" "" "" "Hispanic" ""
"00078416" "" "" "" "1" "" "01695" "{PMID:Duncker 2015:26551331}" "?" "M" "?" "" "" "0" "" "" "white" ""
"00078417" "" "" "" "1" "" "01695" "{PMID:Duncker 2015:26551331}" "?" "F" "?" "" "" "0" "" "" "white" ""
"00078418" "" "" "" "1" "" "01695" "{PMID:Duncker 2015:26551331}" "?" "M" "?" "" "" "0" "" "" "white" ""
"00078419" "" "" "" "1" "" "01695" "{PMID:Duncker 2015:26551331}" "?" "F" "?" "" "" "0" "" "" "white" ""
"00078420" "" "" "" "1" "" "01695" "{PMID:Duncker 2015:26551331}" "?" "F" "?" "" "" "0" "" "" "white" ""
"00078421" "" "" "" "1" "" "01695" "{PMID:Duncker 2015:26551331}" "?" "M" "?" "" "" "0" "" "" "Asian" ""
"00078422" "" "" "" "1" "" "01695" "{PMID:Duncker 2015:26551331}" "?" "F" "?" "" "" "0" "" "" "Asian" ""
"00078423" "" "" "" "1" "" "01695" "{PMID:Duncker 2015:26551331}" "?" "F" "?" "" "" "0" "" "" "white" ""
"00078424" "" "" "" "1" "" "01695" "{PMID:Duncker 2015:25283059}" "?" "M" "?" "" "" "0" "" "" "white" ""
"00078425" "" "" "" "1" "" "01695" "{PMID:Duncker 2015:25283059}" "?" "F" "?" "" "" "0" "" "" "white" ""
"00078426" "" "" "" "1" "" "01695" "{PMID:Duncker 2015:25283059}" "?" "F" "?" "" "" "0" "" "" "white" ""
"00078427" "" "" "" "1" "" "01695" "{PMID:Duncker 2015:25283059}" "?" "F" "?" "" "" "0" "" "" "white" ""
"00078428" "" "" "" "1" "" "01695" "{PMID:Duncker 2015:25283059}" "?" "M" "?" "" "" "0" "" "" "white" ""
"00078429" "" "" "" "1" "" "01695" "{PMID:Duncker 2015:25283059}" "?" "F" "?" "" "" "0" "" "" "white" ""
"00078430" "" "" "" "1" "" "01695" "{PMID:Duncker 2015:25283059}" "?" "M" "?" "" "" "0" "" "" "white" ""
"00078431" "" "" "" "1" "" "01695" "{PMID:Duncker 2015:25283059}" "?" "M" "?" "" "" "0" "" "" "white" ""
"00078432" "" "" "" "1" "" "01695" "{PMID:Duncker 2015:25283059}" "?" "M" "?" "" "" "0" "" "" "white" ""
"00078433" "" "" "" "1" "" "01695" "{PMID:van Huet 2014:25324290}" "" "M" "?" "Netherlands" "" "0" "" "" "?" ""
"00078434" "" "" "" "1" "" "01695" "{PMID:van Huet 2014:25324290}" "" "F" "?" "Netherlands" "" "0" "" "" "?" ""
"00078435" "" "" "" "1" "" "01695" "{PMID:van Huet 2014:25324290}" "" "M" "?" "Netherlands" "" "0" "" "" "?" ""
"00078436" "" "" "" "1" "" "01695" "{PMID:van Huet 2014:25324290}" "" "F" "?" "Netherlands" "" "0" "" "" "?" ""
"00078437" "" "" "" "1" "" "01695" "{PMID:van Huet 2014:25324290}" "" "M" "?" "Netherlands" "" "0" "" "" "?" ""
"00078438" "" "" "" "1" "" "01695" "{PMID:Müller 2015:26720470}" "?" "?" "?" "Germany" "" "0" "" "" "white" ""
"00078439" "" "" "" "1" "" "01695" "{PMID:Müller 2015:26720470}" "?" "?" "?" "Germany" "" "0" "" "" "white" ""
"00078440" "" "" "" "1" "" "01695" "{PMID:Müller 2015:26720470}" "?" "?" "?" "Germany" "" "0" "" "" "white" ""
"00078441" "" "" "" "1" "" "01695" "{PMID:Müller 2015:26720470}" "?" "?" "?" "Germany" "" "0" "" "" "white" ""
"00078442" "" "" "" "1" "" "01695" "{PMID:Müller 2015:26720470}" "?" "?" "?" "Germany" "" "0" "" "" "white" ""
"00078443" "" "" "" "1" "" "01695" "{PMID:Müller 2015:26720470}" "?" "?" "?" "Germany" "" "0" "" "" "white" ""
"00078444" "" "" "" "1" "" "01695" "{PMID:Müller 2015:26720470}" "?" "?" "?" "Germany" "" "0" "" "" "white" ""
"00078445" "" "" "" "1" "" "01695" "{PMID:Müller 2015:26720470}" "?" "?" "?" "Germany" "" "0" "" "" "white" ""
"00078446" "" "" "" "1" "" "01695" "{PMID:Müller 2015:26720470}" "?" "?" "?" "Germany" "" "0" "" "" "white" ""
"00078447" "" "" "" "1" "" "01695" "{PMID:Müller 2015:26720470}" "?" "?" "?" "Germany" "" "0" "" "" "white" ""
"00078448" "" "" "" "1" "" "01695" "{PMID:Müller 2015:26720470}" "?" "?" "?" "Germany" "" "0" "" "" "white" ""
"00078449" "" "" "" "1" "" "01695" "{PMID:Müller 2015:26720470}" "?" "?" "?" "Germany" "" "0" "" "" "white" ""
"00078450" "" "" "" "1" "" "01695" "{PMID:Müller 2015:26720470}" "?" "?" "?" "Germany" "" "0" "" "" "white" ""
"00078451" "" "" "" "1" "" "01695" "{PMID:Müller 2015:26720470}" "?" "?" "?" "Germany" "" "0" "" "" "white" ""
"00078452" "" "" "" "1" "" "01695" "{PMID:Müller 2015:26720470}" "?" "?" "?" "Germany" "" "0" "" "" "white" ""
"00078453" "" "" "" "1" "" "01695" "{PMID:Müller 2015:26720470}" "?" "?" "?" "Germany" "" "0" "" "" "white" ""
"00078454" "" "" "" "1" "" "01695" "{PMID:Cideciyan 2009:19074458}" "?" "F" "?" "" "" "0" "" "" "?" ""
"00078455" "" "" "" "1" "" "01695" "{PMID:Cideciyan 2009:19074458}" "?" "M" "?" "" "" "0" "" "" "?" ""
"00078456" "" "" "" "1" "" "01695" "{PMID:Cideciyan 2009:19074458}" "?" "M" "?" "" "" "0" "" "" "?" ""
"00078457" "" "" "" "1" "" "01695" "{PMID:Cideciyan 2009:19074458}" "?" "F" "?" "" "" "0" "" "" "?" ""
"00078458" "" "" "" "1" "" "01695" "{PMID:Cideciyan 2009:19074458}" "?" "F" "?" "" "" "0" "" "" "?" ""
"00078459" "" "" "" "1" "" "01695" "{PMID:Cideciyan 2009:19074458}" "?" "M" "?" "" "" "0" "" "" "?" ""
"00078460" "" "" "" "1" "" "01695" "{PMID:Cideciyan 2009:19074458}" "?" "M" "?" "" "" "0" "" "" "?" ""
"00078461" "" "" "" "1" "" "01695" "{PMID:Cideciyan 2009:19074458}" "?" "F" "?" "" "" "0" "" "" "?" ""
"00078462" "" "" "" "1" "" "01695" "{PMID:Cideciyan 2009:19074458}" "?" "M" "?" "" "" "0" "" "" "?" ""
"00078463" "" "" "" "1" "" "01695" "{PMID:Cideciyan 2009:19074458}" "?" "F" "?" "" "" "0" "" "" "?" ""
"00078464" "" "" "" "1" "" "01695" "{PMID:Cideciyan 2009:19074458}" "?" "M" "?" "" "" "0" "" "" "?" ""
"00078465" "" "" "" "1" "" "01695" "{PMID:Cideciyan 2009:19074458}" "?" "F" "?" "" "" "0" "" "" "?" ""
"00078466" "" "" "" "1" "" "01695" "{PMID:Cideciyan 2009:19074458}" "?" "M" "?" "" "" "0" "" "" "?" ""
"00078467" "" "" "" "1" "" "01695" "{PMID:Cideciyan 2009:19074458}" "?" "F" "?" "" "" "0" "" "" "?" ""
"00078468" "" "" "" "1" "" "01695" "{PMID:Cideciyan 2009:19074458}" "3 affected family members" "F" "?" "" "" "0" "" "" "?" ""
"00078469" "" "" "" "1" "" "01695" "{PMID:Cideciyan 2009:19074458}" "3 affected family members" "F" "?" "" "" "0" "" "" "?" ""
"00078470" "" "" "" "1" "" "01695" "{PMID:Cideciyan 2009:19074458}" "3 affected family members" "M" "?" "" "" "0" "" "" "?" ""
"00078471" "" "" "" "1" "" "01695" "{PMID:Cideciyan 2009:19074458}" "3 affected family members" "F" "?" "" "" "0" "" "" "?" ""
"00078472" "" "" "" "1" "" "01695" "{PMID:Cideciyan 2009:19074458}" "?" "M" "?" "" "" "0" "" "" "?" ""
"00078473" "" "" "" "1" "" "01695" "{PMID:Cideciyan 2009:19074458}" "1 affected family member" "M" "?" "" "" "0" "" "" "?" ""
"00078474" "" "" "" "1" "" "01695" "{PMID:Cideciyan 2009:19074458}" "?" "M" "?" "" "" "0" "" "" "?" ""
"00078475" "" "" "" "1" "" "01695" "{PMID:Cideciyan 2009:19074458}" "?" "F" "?" "" "" "0" "" "" "?" ""
"00078476" "" "" "" "1" "" "01695" "{PMID:Cideciyan 2009:19074458}" "1 affected family member" "F" "?" "" "" "0" "" "" "?" ""
"00078477" "" "" "" "1" "" "01695" "{PMID:Cideciyan 2009:19074458}" "?" "M" "?" "" "" "0" "" "" "?" ""
"00078478" "" "" "" "1" "" "01695" "{PMID:Cideciyan 2009:19074458}" "?" "F" "?" "" "" "0" "" "" "?" ""
"00078479" "" "" "" "1" "" "01695" "{PMID:Cideciyan 2009:19074458}" "?" "F" "?" "" "" "0" "" "" "?" ""
"00078480" "" "" "" "1" "" "01695" "{PMID:Cideciyan 2009:19074458}" "?" "F" "?" "" "" "0" "" "" "?" ""
"00078481" "" "" "" "1" "" "01695" "{PMID:Cideciyan 2009:19074458}" "?" "M" "?" "" "" "0" "" "" "?" ""
"00078482" "" "" "" "1" "" "01695" "{PMID:Cideciyan 2009:19074458}" "?" "M" "?" "" "" "0" "" "" "?" ""
"00078483" "" "" "" "1" "" "01695" "{PMID:Cideciyan 2009:19074458}" "?" "F" "?" "" "" "0" "" "" "?" ""
"00078484" "" "" "" "1" "" "01695" "{PMID:Cideciyan 2009:19074458}" "?" "M" "?" "" "" "0" "" "" "?" ""
"00078485" "" "" "" "1" "" "01695" "{PMID:Cideciyan 2009:19074458}" "?" "F" "?" "" "" "0" "" "" "?" ""
"00078486" "" "" "" "1" "" "01695" "{PMID:Cideciyan 2009:19074458}" "?" "F" "?" "" "" "0" "" "" "?" ""
"00078487" "" "" "" "1" "" "01695" "{PMID:Cideciyan 2009:19074458}" "?" "M" "?" "" "" "0" "" "" "?" ""
"00078488" "" "" "" "1" "" "01695" "{PMID:Cideciyan 2009:19074458}" "?" "M" "?" "" "" "0" "" "" "?" ""
"00078489" "" "" "" "1" "" "01695" "{PMID:Cideciyan 2009:19074458}" "?" "F" "?" "" "" "0" "" "" "?" ""
"00078490" "" "" "" "1" "" "01695" "{PMID:Cideciyan 2009:19074458}" "?" "M" "?" "" "" "0" "" "" "?" ""
"00078491" "" "" "" "1" "" "01695" "{PMID:Cideciyan 2009:19074458}" "?" "F" "?" "" "" "0" "" "" "?" ""
"00078492" "" "" "" "1" "" "01695" "{PMID:Cideciyan 2009:19074458}" "?" "F" "?" "" "" "0" "" "" "?" ""
"00078493" "" "" "" "1" "" "01695" "{PMID:Cideciyan 2009:19074458}" "?" "F" "?" "" "" "0" "" "" "?" ""
"00078494" "" "" "" "1" "" "01695" "{PMID:Cideciyan 2009:19074458}" "?" "F" "?" "" "" "0" "" "" "?" ""
"00078495" "" "" "" "1" "" "01695" "{PMID:Cideciyan 2009:19074458}" "?" "F" "?" "" "" "0" "" "" "?" ""
"00078496" "" "" "" "1" "" "01695" "{PMID:Cideciyan 2009:19074458}" "?" "F" "?" "" "" "0" "" "" "?" ""
"00078497" "" "" "" "1" "" "01695" "{PMID:Cideciyan 2009:19074458}" "?" "M" "?" "" "" "0" "" "" "?" ""
"00078498" "" "" "" "1" "" "01695" "{PMID:Cideciyan 2009:19074458}" "?" "M" "?" "" "" "0" "" "" "?" ""
"00078499" "" "" "" "1" "" "01695" "{PMID:Cideciyan 2009:19074458}" "?" "F" "?" "" "" "0" "" "" "?" ""
"00078500" "" "" "" "1" "" "01695" "{PMID:Cideciyan 2009:19074458}" "?" "F" "?" "" "" "0" "" "" "?" ""
"00078501" "" "" "" "1" "" "01695" "{PMID:Cideciyan 2009:19074458}" "?" "F" "?" "" "" "0" "" "" "?" ""
"00078502" "" "" "" "1" "" "01695" "{PMID:Cideciyan 2009:19074458}" "?" "F" "?" "" "" "0" "" "" "?" ""
"00078503" "" "" "" "1" "" "01695" "{PMID:Cideciyan 2009:19074458}" "?" "M" "?" "" "" "0" "" "" "?" ""
"00078504" "" "" "" "1" "" "01695" "{PMID:Cideciyan 2009:19074458}" "?" "M" "?" "" "" "0" "" "" "?" ""
"00078505" "" "" "" "1" "" "01695" "{PMID:Cideciyan 2009:19074458}" "?" "M" "?" "" "" "0" "" "" "?" ""
"00078506" "" "" "" "1" "" "01695" "{PMID:Cideciyan 2009:19074458}" "?" "F" "?" "" "" "0" "" "" "?" ""
"00078507" "" "" "" "1" "" "01695" "{PMID:Cideciyan 2009:19074458}" "2 affected family members" "F" "?" "" "" "0" "" "" "?" ""
"00078508" "" "" "" "1" "" "01695" "{PMID:Cideciyan 2009:19074458}" "2 affected family members" "F" "?" "" "" "0" "" "" "?" ""
"00078509" "" "" "" "1" "" "01695" "{PMID:Cideciyan 2009:19074458}" "?" "F" "?" "" "" "0" "" "" "?" ""
"00078510" "" "" "" "1" "" "01695" "{PMID:Cideciyan 2009:19074458}" "1 affected family member" "F" "?" "" "" "0" "" "" "?" ""
"00078511" "" "" "" "1" "" "01695" "{PMID:Cideciyan 2009:19074458}" "?" "F" "?" "" "" "0" "" "" "?" ""
"00078512" "" "" "" "1" "" "01695" "{PMID:Cideciyan 2009:19074458}" "?" "F" "?" "" "" "0" "" "" "?" ""
"00078513" "" "" "" "1" "" "01695" "{PMID:Cideciyan 2009:19074458}" "?" "M" "?" "" "" "0" "" "" "?" ""
"00078514" "" "" "" "1" "" "01695" "{PMID:Cideciyan 2009:19074458}" "4 affected family members" "M" "?" "" "" "0" "" "" "?" ""
"00078515" "" "" "" "1" "" "01695" "{PMID:Cideciyan 2009:19074458}" "4 affected family members" "M" "?" "" "" "0" "" "" "?" ""
"00078516" "" "" "" "1" "" "01695" "{PMID:Cideciyan 2009:19074458}" "4 affected family members" "F" "?" "" "" "0" "" "" "?" ""
"00078517" "" "" "" "1" "" "01695" "{PMID:Cideciyan 2009:19074458}" "4 affected family members" "F" "?" "" "" "0" "" "" "?" ""
"00078518" "" "" "" "1" "" "01695" "{PMID:Cideciyan 2009:19074458}" "?" "F" "?" "" "" "0" "" "" "?" ""
"00078519" "" "" "" "1" "" "01695" "{PMID:Cideciyan 2009:19074458}" "?" "F" "?" "" "" "0" "" "" "?" ""
"00078520" "" "" "" "1" "" "01695" "{PMID:Song 2015:26247787}" "?" "M" "?" "" "" "0" "" "" "?" ""
"00078521" "" "" "" "1" "" "01695" "{PMID:Song 2015:26247787}" "?" "M" "?" "" "" "0" "" "" "?" ""
"00078522" "" "" "00077545" "1" "" "01695" "{PMID:Sánchez-Alcudia 2014:25342620}" "daughter" "F" "yes" "Spain" "" "0" "" "" "?" "RP-0714PatIII3"
"00080783" "" "" "" "1" "" "01763" "Haer-Wigman 2016" "" "?" "" "" "" "0" "" "" "" ""
"00080784" "" "" "" "1" "" "01763" "Haer-Wigman 2016" "" "" "no" "" "" "0" "" "" "" ""
"00080785" "" "" "" "1" "" "01763" "Haer-Wigman 2016" "" "?" "no" "" "" "0" "" "" "" ""
"00080786" "" "" "" "1" "" "01763" "" "" "?" "no" "" "" "0" "" "" "" ""
"00080787" "" "" "" "1" "" "01763" "Haer-Wigman 2016" "" "?" "no" "" "" "0" "" "" "" ""
"00080788" "" "" "" "1" "" "01763" "Haer-Wigman 2016" "" "?" "no" "" "" "0" "" "" "" ""
"00080789" "" "" "" "1" "" "01763" "" "" "?" "no" "" "" "0" "" "" "" ""
"00080791" "" "" "" "1" "" "01763" "Haer-Wigman 2016" "" "?" "no" "" "" "0" "" "" "" ""
"00090137" "" "" "" "1" "" "00717" "{PMID:Lee 2017:28327576}, {DOI:Lee 2017:10.1038/ejhg.2017.13}" "" "" "" "" "" "0" "" "" "Indian/African" ""
"00090138" "" "" "" "29" "" "00717" "{PMID:Lee 2017:28327576}, {DOI:Lee 2017:10.1038/ejhg.2017.13}" "" "" "" "" "" "0" "" "" "Indian" ""
"00090139" "" "" "" "29" "" "00717" "{PMID:Lee 2017:28327576}, {DOI:Lee 2017:10.1038/ejhg.2017.13}" "" "" "" "" "" "0" "" "" "Indian" ""
"00090140" "" "" "" "29" "" "00717" "{PMID:Lee 2017:28327576}, {DOI:Lee 2017:10.1038/ejhg.2017.13}" "" "" "" "" "" "0" "" "" "Indian" ""
"00090141" "" "" "" "29" "" "00717" "{PMID:Lee 2017:28327576}, {DOI:Lee 2017:10.1038/ejhg.2017.13}" "" "" "" "" "" "0" "" "" "Indian" ""
"00090142" "" "" "" "29" "" "00717" "{PMID:Lee 2017:28327576}, {DOI:Lee 2017:10.1038/ejhg.2017.13}" "" "" "" "" "" "0" "" "" "Indian" ""
"00090143" "" "" "" "29" "" "00717" "{PMID:Lee 2017:28327576}, {DOI:Lee 2017:10.1038/ejhg.2017.13}" "" "" "" "" "" "0" "" "" "Indian" ""
"00090144" "" "" "" "29" "" "00717" "{PMID:Lee 2017:28327576}, {DOI:Lee 2017:10.1038/ejhg.2017.13}" "" "" "" "" "" "0" "" "" "Indian" ""
"00090145" "" "" "" "29" "" "00717" "{PMID:Lee 2017:28327576}, {DOI:Lee 2017:10.1038/ejhg.2017.13}" "" "" "" "" "" "0" "" "" "Indian" ""
"00090146" "" "" "" "29" "" "00717" "{PMID:Lee 2017:28327576}, {DOI:Lee 2017:10.1038/ejhg.2017.13}" "" "" "" "" "" "0" "" "" "Indian" ""
"00090147" "" "" "" "29" "" "00717" "{PMID:Lee 2017:28327576}, {DOI:Lee 2017:10.1038/ejhg.2017.13}" "" "" "" "" "" "0" "" "" "Indian" ""
"00090148" "" "" "" "29" "" "00717" "{PMID:Lee 2017:28327576}, {DOI:Lee 2017:10.1038/ejhg.2017.13}" "" "" "" "" "" "0" "" "" "Indian/Italian" ""
"00090149" "" "" "" "29" "" "00717" "{PMID:Lee 2017:28327576}, {DOI:Lee 2017:10.1038/ejhg.2017.13}" "" "" "" "" "" "0" "" "" "Indian" ""
"00090151" "" "" "" "29" "" "00717" "{PMID:Lee 2017:28327576}, {DOI:Lee 2017:10.1038/ejhg.2017.13}" "" "" "" "" "" "0" "" "" "Indian" ""
"00090152" "" "" "" "29" "" "00717" "{PMID:Lee 2017:28327576}, {DOI:Lee 2017:10.1038/ejhg.2017.13}" "" "" "" "" "" "0" "" "" "Indian" ""
"00090153" "" "" "" "29" "" "00717" "{PMID:Lee 2017:28327576}, {DOI:Lee 2017:10.1038/ejhg.2017.13}" "" "" "" "" "" "0" "" "" "Indian" ""
"00090154" "" "" "" "29" "" "00717" "{PMID:Lee 2017:28327576}, {DOI:Lee 2017:10.1038/ejhg.2017.13}" "" "" "" "" "" "0" "" "" "Indian" ""
"00090155" "" "" "" "29" "" "00717" "{PMID:Lee 2017:28327576}, {DOI:Lee 2017:10.1038/ejhg.2017.13}" "" "" "" "" "" "0" "" "" "Pakistani" ""
"00090157" "" "" "" "29" "" "00717" "{PMID:Lee 2017:28327576}, {DOI:Lee 2017:10.1038/ejhg.2017.13}" "" "" "" "" "" "0" "" "" "Indian" ""
"00090158" "" "" "" "29" "" "00717" "{PMID:Lee 2017:28327576}, {DOI:Lee 2017:10.1038/ejhg.2017.13}" "" "" "" "" "" "0" "" "" "Indian" ""
"00090159" "" "" "" "29" "" "00717" "{PMID:Lee 2017:28327576}, {DOI:Lee 2017:10.1038/ejhg.2017.13}" "" "" "" "" "" "0" "" "" "Indian" ""
"00090161" "" "" "" "29" "" "00717" "{PMID:Lee 2017:28327576}, {DOI:Lee 2017:10.1038/ejhg.2017.13}" "" "" "" "" "" "0" "" "" "Indian" ""
"00090162" "" "" "" "29" "" "00717" "{PMID:Lee 2017:28327576}, {DOI:Lee 2017:10.1038/ejhg.2017.13}" "" "" "" "" "" "0" "" "" "Pakistani" ""
"00090163" "" "" "" "29" "" "00717" "{PMID:Lee 2017:28327576}, {DOI:Lee 2017:10.1038/ejhg.2017.13}" "" "" "" "" "" "0" "" "" "Indian" ""
"00090165" "" "" "" "29" "" "00717" "{PMID:Lee 2017:28327576}, {DOI:Lee 2017:10.1038/ejhg.2017.13}" "" "" "" "" "" "0" "" "" "Indian" ""
"00090166" "" "" "" "29" "" "00717" "{PMID:Lee 2017:28327576}, {DOI:Lee 2017:10.1038/ejhg.2017.13}" "" "" "" "" "" "0" "" "" "Indian" ""
"00090167" "" "" "" "29" "" "00717" "{PMID:Lee 2017:28327576}, {DOI:Lee 2017:10.1038/ejhg.2017.13}" "" "" "" "" "" "0" "" "" "Indian" ""
"00090168" "" "" "" "29" "" "00717" "{PMID:Lee 2017:28327576}, {DOI:Lee 2017:10.1038/ejhg.2017.13}" "" "" "" "" "" "0" "" "" "Pakistani" ""
"00090169" "" "" "" "29" "" "00717" "{PMID:Lee 2017:28327576}, {DOI:Lee 2017:10.1038/ejhg.2017.13}" "" "" "" "" "" "0" "" "" "Indian/Moroccan" ""
"00090170" "" "" "" "29" "" "00717" "{PMID:Lee 2017:28327576}, {DOI:Lee 2017:10.1038/ejhg.2017.13}" "" "" "" "" "" "0" "" "" "Indian/Moroccan" ""
"00103902" "" "" "" "1" "" "00006" "{PMID:Eldomery 2017:28327206}, {DOI:Eldomery 2017:10.1186/s13073-017-0412-6}" "" "" "" "United States" "" "0" "" "" "" "28327206-PatBH5705_1"
"00104993" "" "" "" "1" "" "01244" "{PMID:de Castro-Miró 2016:28005958}" "" "M" "no" "Spain" "" "0" "" "" "" "77ORG"
"00105211" "" "" "" "1" "" "01244" "{PMID:de Castro-Miró 2014:24516651}" "" "M" "" "Croatia (Hrvatska)" "" "0" "" "" "" ""
"00143966" "" "" "" "1" "" "01780" "{PMID:Xu 2014:24938718}" "" "M" "yes" "China" "" "0" "" "" "Chinese" ""
"00145073" "" "" "" "3" "" "02348" "" "4-generation family, 3 affected (2 males, 1 female), unaffected consanguineous deceased parents" "F" "yes" "China" ">41y" "0" "yes" "none" "Asian-Chinese" "7297-02348"
"00151424" "" "" "" "1" "" "00006" "{PMID:Weisz Hubshman 2018:29272404}, Vulto-van Silfhout 2024, submitted" "2-generation family, 1 affected, unaffected heterozygous carrier parents/brother" "F" "" "Morocco" "" "0" "" "" "Yemenite;Jew" "FamPatII1;Fam1"
"00152045" "" "" "" "1" "" "02383" "{PMID:Garces 2018:29847635}, {DOI:Garces 2018:10.1167/iovs.17-23364}" "" "?" "" "Canada" ">11y" "0" "" "" "" "Patient 5"
"00152690" "" "" "" "1" "" "02383" "{PMID:Garces 2018:29847635}, {DOI:Garces 2018:10.1167/iovs.17-23364}" "" "" "" "" ">53y" "0" "" "" "" "Patient 1"
"00152691" "" "" "" "1" "" "02383" "{DOI:Garces, F. et al. 2018.:10.1167/iovs.17-23364}" "" "?" "" "" ">22y" "0" "" "" "" "Patient 2"
"00152692" "" "" "" "1" "" "02383" "{PMID:Garces 2018:29847635}, {DOI:Garces 2018:10.1167/iovs.17-23364}" "" "" "" "Canada" ">28y" "0" "" "" "" "Patient 3"
"00152693" "" "" "" "1" "" "02383" "{PMID:Garces 2018:29847635}, {DOI:Garces 2018:10.1167/iovs.17-23364}" "" "" "" "Canada" ">30y" "0" "" "" "" "Patient 4"
"00152703" "" "" "" "1" "" "02383" "{PMID:Garces 2018:29847635}, {DOI:Garces 2018:10.1167/iovs.17-23364}" "" "" "" "Canada" ">55y" "0" "" "" "" "Patient 6"
"00152705" "" "" "" "1" "" "02383" "{DOI:Garces, F. et al. 2018.:10.1167/iovs.17-23364}" "" "?" "" "Canada" ">13y" "0" "" "" "" "Patient 8"
"00152706" "" "" "" "1" "" "02383" "{DOI:Garces, F. et al. 2018.:10.1167/iovs.17-23364}" "" "?" "" "Canada" ">30y" "0" "" "" "" "Patient 9"
"00152707" "" "" "" "1" "" "02383" "{PMID:Garces 2018:29847635}, {DOI:Garces 2018:10.1167/iovs.17-23364}" "" "?" "" "Canada" ">36y" "0" "" "" "" "Patient 10"
"00152718" "" "" "" "1" "" "02383" "{PMID:Garces 2018:29847635}, {DOI:Garces 2018:10.1167/iovs.17-23364}" "" "?" "" "Canada" ">45y" "0" "" "" "" "Patient 11"
"00152719" "" "" "" "1" "" "02383" "{PMID:Garces 2018:29847635}, {DOI:Garces 2018:10.1167/iovs.17-23364}" "" "?" "" "Canada" ">63y" "0" "" "" "" "Patient 12"
"00155317" "" "" "" "1" "" "01243" "Sharon, submitted" "" "M" "yes" "Israel" "" "0" "" "" "Arab-Muslim" ""
"00155318" "" "" "" "1" "" "01243" "Sharon, submitted" "" "F" "no" "Israel" "" "0" "" "" "Arab-Muslim" ""
"00155319" "" "" "" "3" "" "01243" "Sharon, submitted" "" "M" "no" "Israel" "" "0" "" "" "Arab-Muslim" ""
"00155320" "" "" "" "1" "" "01243" "Sharon, submitted" "" "M" "no" "Israel" "" "0" "" "" "Jewish-Ashkenazi" ""
"00155321" "" "" "" "1" "" "01243" "Sharon, submitted" "" "F" "no" "Israel" "" "0" "" "" "Ethiopia;Jewish" ""
"00155322" "" "" "" "1" "" "01243" "Sharon, submitted" "" "F" "no" "Israel" "" "0" "" "" "Ethiopia;Jewish" ""
"00155323" "" "" "" "1" "" "01243" "Sharon, submitted" "" "M" "yes" "Israel" "" "0" "" "" "Morocco;Jewish" ""
"00155324" "" "" "" "1" "" "01243" "Sharon, submitted" "" "F" "no" "Israel" "" "0" "" "" "Yemenite;Jewish" ""
"00155325" "" "" "" "1" "" "01243" "Sharon, submitted" "" "F" "no" "Israel" "" "0" "" "" "Turkey;Morocco;Jewish" ""
"00155326" "" "" "" "2" "" "01243" "Sharon, submitted" "" "F" "no" "Israel" "" "0" "" "" "Russia;Jewish" ""
"00155327" "" "" "" "2" "" "01243" "Sharon, submitted" "" "F" "no" "Israel" "" "0" "" "" "Jewish-Ashkenazi" ""
"00155328" "" "" "" "1" "" "01243" "Sharon, submitted" "" "M" "yes" "Israel" "" "0" "" "" "Morocco;Jewish" ""
"00155329" "" "" "" "1" "" "01243" "Sharon, submitted" "" "F" "no" "Israel" "" "0" "" "" "Russia;Jewish" ""
"00155330" "" "" "" "1" "" "01243" "Sharon, submitted" "" "F" "no" "Israel" "" "0" "" "" "Jewish" ""
"00155331" "" "" "" "1" "" "01243" "Sharon, submitted" "" "F" "no" "Israel" "" "0" "" "" "Yemenite;Jewish" ""
"00155332" "" "" "" "3" "" "01243" "Sharon, submitted" "" "M" "yes" "Israel" "" "0" "" "" "Yemenite;Jewish" ""
"00155333" "" "" "" "2" "" "01243" "Sharon, submitted" "" "M" "no" "Israel" "" "0" "" "" "Jewish" ""
"00155334" "" "" "" "1" "" "01243" "Sharon, submitted" "" "F" "no" "Israel" "" "0" "" "" "Uzbekistan;Jewish" ""
"00155335" "" "" "" "1" "" "01243" "Sharon, submitted" "" "M" "no" "Israel" "" "0" "" "" "Bulgaria;Jewish" ""
"00155336" "" "" "" "1" "" "01243" "Sharon, submitted" "" "F" "no" "Israel" "" "0" "" "" "Jewish-Ashkenazi" ""
"00155337" "" "" "" "1" "" "01243" "Sharon, submitted" "" "F" "no" "Israel" "" "0" "" "" "Druze" ""
"00155338" "" "" "" "1" "" "01243" "Sharon, submitted" "" "M" "no" "Israel" "" "0" "" "" "Arab-Muslim" ""
"00155339" "" "" "" "1" "" "01243" "Sharon, submitted" "" "F" "no" "Israel" "" "0" "" "" "Jewish-Ashkenazi" ""
"00155340" "" "" "" "1" "" "01243" "Sharon, submitted" "" "F" "no" "Israel" "" "0" "" "" "Jewish-Ashkenazi" ""
"00155341" "" "" "" "1" "" "01243" "Sharon, submitted" "" "M" "no" "Israel" "" "0" "" "" "Jewish" ""
"00155342" "" "" "" "1" "" "01243" "Sharon, submitted" "" "M" "no" "Israel" "" "0" "" "" "Arab-Muslim" ""
"00155343" "" "" "" "2" "" "01243" "Sharon, submitted" "" "M" "no" "Israel" "" "0" "" "" "Uzbekistan;Jewish" ""
"00155344" "" "" "" "2" "" "01243" "Sharon, submitted" "" "M" "yes" "Israel" "" "0" "" "" "Arab Christian" ""
"00155345" "" "" "" "3" "" "01243" "Sharon, submitted" "" "M" "no" "Israel" "" "0" "" "" "Turkey;Jewish" ""
"00155346" "" "" "" "1" "" "01243" "Sharon, submitted" "" "M" "no" "Israel" "" "0" "" "" "Jewish-Ashkenazi" ""
"00155347" "" "" "" "1" "" "01243" "Sharon, submitted" "" "M" "no" "Israel" "" "0" "" "" "Jewish" ""
"00155348" "" "" "" "2" "" "01243" "Sharon, submitted" "" "M" "yes" "Israel" "" "0" "" "" "Uzbekistan;Jewish" ""
"00155349" "" "" "" "1" "" "01243" "Sharon, submitted" "" "M" "no" "Israel" "" "0" "" "" "Arab-Muslim" ""
"00155350" "" "" "" "1" "" "01243" "Sharon, submitted" "" "M" "no" "Israel" "" "0" "" "" "Arab-Muslim" ""
"00155351" "" "" "" "2" "" "01243" "Sharon, submitted" "" "M" "no" "Israel" "" "0" "" "" "Arab-Muslim" ""
"00155352" "" "" "" "1" "" "01243" "Sharon, submitted" "" "F" "no" "Israel" "" "0" "" "" "Jewish" ""
"00155353" "" "" "" "1" "" "01243" "Sharon, submitted" "" "M" "yes" "Israel" "" "0" "" "" "Turkey;Jewish" ""
"00155354" "" "" "" "3" "" "01243" "Sharon, submitted" "" "F" "yes" "Israel" "" "0" "" "" "Morocco;Jewish" ""
"00155355" "" "" "" "3" "" "01243" "Sharon, submitted" "" "M" "yes" "Israel" "" "0" "" "" "Arab-Muslim" ""
"00155356" "" "" "" "1" "" "01243" "Sharon, submitted" "" "M" "yes" "Israel" "" "0" "" "" "Turkey;Jewish" ""
"00155357" "" "" "" "1" "" "01243" "Sharon, submitted" "" "F" "yes" "Israel" "" "0" "" "" "Arab-Muslim" ""
"00155358" "" "" "" "2" "" "01243" "Sharon, submitted" "" "F" "no" "Israel" "" "0" "" "" "Arab-Muslim" ""
"00155359" "" "" "" "8" "" "01243" "Sharon, submitted" "" "F" "yes" "Israel" "" "0" "" "" "Arab-Muslim" ""
"00155360" "" "" "" "1" "" "01243" "Sharon, submitted" "" "F" "no" "Israel" "" "0" "" "" "Jewish-Ashkenazi" ""
"00155361" "" "" "" "1" "" "01243" "Sharon, submitted" "" "M" "no" "Israel" "" "0" "" "" "Russia;Jewish" ""
"00155362" "" "" "" "2" "" "01243" "Sharon, submitted" "" "M" "yes" "Israel" "" "0" "" "" "Arab Christian" ""
"00155363" "" "" "" "1" "" "01243" "Sharon, submitted" "" "M" "no" "Israel" "" "0" "" "" "Jewish-Ashkenazi" ""
"00155364" "" "" "" "2" "" "01243" "Sharon, submitted" "" "M" "no" "Israel" "" "0" "" "" "Arab-Muslim" ""
"00155365" "" "" "" "1" "" "01243" "Sharon, submitted" "" "F" "no" "Israel" "" "0" "" "" "Jewish" ""
"00155366" "" "" "" "1" "" "01243" "Sharon, submitted" "" "F" "no" "Israel" "" "0" "" "" "Jewish" ""
"00155367" "" "" "" "1" "" "01243" "Sharon, submitted" "" "M" "yes" "Israel" "" "0" "" "" "Arab-Muslim" ""
"00155368" "" "" "" "3" "" "01243" "Sharon, submitted" "" "F" "yes" "Israel" "" "0" "" "" "Arab-Muslim" ""
"00155369" "" "" "" "1" "" "01243" "Sharon, submitted" "" "M" "yes" "Israel" "" "0" "" "" "Arab-Muslim" ""
"00155370" "" "" "" "1" "" "01243" "Sharon, submitted" "" "F" "no" "Israel" "" "0" "" "" "Druze" ""
"00155371" "" "" "" "1" "" "01243" "Sharon, submitted" "" "M" "yes" "Israel" "" "0" "" "" "Arab-Muslim" ""
"00155372" "" "" "" "1" "" "01243" "Sharon, submitted" "" "M" "no" "Israel" "" "0" "" "" "Arab-Muslim" ""
"00163983" "" "" "" "1" "" "00717" "" "" "" "" "" "" "0" "" "" "" ""
"00164649" "" "" "" "1" "" "00006" "{PMID:Sangermano 2018:29162642}" "" "F" "no" "" "" "0" "" "" "" "29162642-Pat1"
"00164650" "" "" "" "1" "" "00006" "{PMID:Sangermano 2018:29162642}" "" "M" "" "" "" "0" "" "" "" "29162642-Pat2"
"00164651" "" "" "" "1" "" "00006" "{PMID:Sangermano 2018:29162642}" "" "F" "" "" "" "0" "" "" "" "29162642-Pat3"
"00170848" "" "" "" "1" "" "00244" "Manuscript under review (González-del Pozo et al., 2018)" "" "M" "no" "Spain" "" "0" "" "" "" "IRD4.0_#43"
"00170849" "" "" "" "1" "" "00244" "Manuscript under review (González-del Pozo et al., 2018)" "" "M" "?" "Spain" "" "0" "" "" "" "IRD4.0_#15"
"00170850" "" "" "" "1" "" "00244" "Manuscript under review (González-del Pozo et al., 2018)" "" "F" "?" "Spain" "" "0" "" "" "" "IRD4.0_#7"
"00183268" "" "" "" "2" "" "02597" "{PMID:Nassisi 2018:30060493}" "2-generation family, 2 affected brothers," "M" "no" "France" ">40y" "0" "" "" "" "30060493-Fam1673Pat03734"
"00183333" "" "" "" "1" "" "02597" "{PMID:Nassisi 2018:30060493}" "" "F" "no" "Guadeloupe" ">17y" "0" "" "" "" "30060493-Fam4412PatCIC07895"
"00183360" "" "" "" "1" "" "02597" "{PMID:Nassisi 2018:30060493}" "" "F" "no" "France" ">20y" "0" "" "" "" "30060493-Fam4407PatCIC07887"
"00183362" "" "" "" "1" "" "02597" "{PMID:Nassisi 2018:30060493}" "" "F" "no" "France" ">10y" "0" "" "" "Morocco" "30060493-Fam4301PatCIC07725"
"00183364" "" "" "" "1" "" "02597" "{PMID:Nassisi 2018:30060493}" "" "M" "no" "France" ">18y" "0" "" "" "" "30060493-Fam2672PatCIC05266"
"00183369" "" "" "" "1" "" "02597" "{PMID:Nassisi 2018:30060493}" "" "F" "no" "Poland" ">48y" "0" "" "" "" "30060493-Fam1037PatCIC02804"
"00207594" "" "" "" "2" "" "01244" "" "" "M" "" "" "" "0" "" "" "" ""
"00207674" "" "" "" "1" "" "01244" "" "" "M" "" "" "" "0" "" "" "" ""
"00207699" "" "" "" "1" "" "01244" "" "" "F" "" "" "" "0" "" "" "" ""
"00209006" "" "" "" "1" "" "00006" "{PMID:Lionel 2018:28771251}" "" "M" "" "Canada" "" "0" "" "" "" "28771251-Pat08"
"00209014" "" "" "" "1" "" "00006" "{PMID:Lionel 2018:28771251}" "" "M" "" "Canada" "" "0" "" "" "" "28771251-Pat20"
"00209015" "" "" "" "1" "" "00006" "{PMID:Lionel 2018:28771251}" "" "M" "" "Canada" "" "0" "" "" "" "28771251-Pat22"
"00209029" "" "" "" "1" "" "00006" "{PMID:Lionel 2018:28771251}" "" "F" "" "Canada" "" "0" "" "" "" "28771251-Pat48"
"00218391" "" "" "" "3" "" "03188" "" "" "" "" "" "" "0" "" "" "" ""
"00230661" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "Germany" "" "0" "" "" "" "?"
"00230662" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "Germany" "" "0" "" "" "" "?"
"00230663" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "Germany" "" "0" "" "" "" "?"
"00230664" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "Germany" "" "0" "" "" "" "?"
"00230665" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "Germany" "" "0" "" "" "" "?"
"00230666" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "Germany" "" "0" "" "" "" "?"
"00230667" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "Germany" "" "0" "" "" "" "?"
"00230668" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "Germany" "" "0" "" "" "" "?"
"00230669" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "Germany" "" "0" "" "" "" "?"
"00230670" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "Germany" "" "0" "" "" "" "?"
"00230671" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "Germany" "" "0" "" "" "" "?"
"00230672" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "Germany" "" "0" "" "" "" "?"
"00230673" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "Germany" "" "0" "" "" "" "?"
"00230674" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "Germany" "" "0" "" "" "" "?"
"00230675" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "Germany" "" "0" "" "" "" "?"
"00230676" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "Germany" "" "0" "" "" "" "?"
"00230677" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "Germany" "" "0" "" "" "" "?"
"00230678" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "Germany" "" "0" "" "" "" "?"
"00230679" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "Germany" "" "0" "" "" "" "?"
"00230680" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "Germany" "" "0" "" "" "" "?"
"00230681" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "Germany" "" "0" "" "" "" "?"
"00230682" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "Germany" "" "0" "" "" "" "?"
"00230683" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "Germany" "" "0" "" "" "" "?"
"00230684" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "Germany" "" "0" "" "" "" "?"
"00230685" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "Germany" "" "0" "" "" "" "?"
"00230686" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "Germany" "" "0" "" "" "" "?"
"00230687" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "Germany" "" "0" "" "" "" "?"
"00230688" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "Germany" "" "0" "" "" "" "?"
"00230689" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "Germany" "" "0" "" "" "" "?"
"00230690" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "Germany" "" "0" "" "" "" "?"
"00230691" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "Germany" "" "0" "" "" "" "?"
"00230692" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "France" "" "0" "" "" "" "?"
"00230693" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "France" "" "0" "" "" "" "?"
"00230694" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "France" "" "0" "" "" "" "?"
"00230695" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "France" "" "0" "" "" "" "?"
"00230696" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "France" "" "0" "" "" "" "?"
"00230697" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "France" "" "0" "" "" "" "?"
"00230698" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "France" "" "0" "" "" "" "?"
"00230699" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "France" "" "0" "" "" "" "?"
"00230700" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "France" "" "0" "" "" "" "?"
"00230701" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "France" "" "0" "" "" "" "?"
"00230702" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "France" "" "0" "" "" "" "?"
"00230703" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "France" "" "0" "" "" "" "?"
"00230704" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "France" "" "0" "" "" "" "?"
"00230705" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "France" "" "0" "" "" "" "?"
"00230706" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "France" "" "0" "" "" "" "?"
"00230707" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "France" "" "0" "" "" "" "?"
"00230708" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "France" "" "0" "" "" "" "?"
"00230709" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "France" "" "0" "" "" "" "?"
"00230710" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "France" "" "0" "" "" "" "?"
"00230711" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "France" "" "0" "" "" "" "?"
"00230712" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "France" "" "0" "" "" "" "?"
"00230713" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "France" "" "0" "" "" "" "?"
"00230714" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "France" "" "0" "" "" "" "?"
"00230715" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "France" "" "0" "" "" "" "?"
"00230716" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "France" "" "0" "" "" "" "?"
"00230717" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "France" "" "0" "" "" "" "?"
"00230718" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "France" "" "0" "" "" "" "?"
"00230719" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "France" "" "0" "" "" "" "?"
"00230720" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "France" "" "0" "" "" "" "?"
"00230721" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "France" "" "0" "" "" "" "?"
"00230722" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "France" "" "0" "" "" "" "?"
"00230723" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "France" "" "0" "" "" "" "?"
"00230724" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "France" "" "0" "" "" "" "?"
"00230725" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "France" "" "0" "" "" "" "?"
"00230726" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "France" "" "0" "" "" "" "?"
"00230727" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "France" "" "0" "" "" "" "?"
"00230728" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "France" "" "0" "" "" "" "?"
"00230729" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "France" "" "0" "" "" "" "?"
"00230730" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "France" "" "0" "" "" "" "?"
"00230731" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "France" "" "0" "" "" "" "?"
"00230732" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "France" "" "0" "" "" "" "?"
"00230733" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "France" "" "0" "" "" "" "?"
"00230734" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "France" "" "0" "" "" "" "?"
"00230735" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "France" "" "0" "" "" "" "?"
"00230736" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "France" "" "0" "" "" "" "?"
"00230737" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "France" "" "0" "" "" "" "?"
"00230738" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "France" "" "0" "" "" "" "?"
"00230739" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "France" "" "0" "" "" "" "?"
"00230740" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "France" "" "0" "" "" "" "?"
"00230741" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "France" "" "0" "" "" "" "?"
"00230742" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "France" "" "0" "" "" "" "?"
"00230743" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "France" "" "0" "" "" "" "?"
"00230744" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "France" "" "0" "" "" "" "?"
"00230745" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "France" "" "0" "" "" "" "?"
"00230746" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "France" "" "0" "" "" "" "?"
"00230747" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "France" "" "0" "" "" "" "?"
"00230748" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "France" "" "0" "" "" "" "?"
"00230749" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "France" "" "0" "" "" "" "?"
"00230750" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "France" "" "0" "" "" "" "?"
"00230751" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "France" "" "0" "" "" "" "?"
"00230752" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "France" "" "0" "" "" "" "?"
"00230753" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "France" "" "0" "" "" "" "?"
"00230754" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "France" "" "0" "" "" "" "?"
"00230755" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "France" "" "0" "" "" "" "?"
"00230756" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "France" "" "0" "" "" "" "?"
"00230757" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "France" "" "0" "" "" "" "?"
"00230758" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "Germany" "" "0" "" "" "" "?"
"00230759" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "Germany" "" "0" "" "" "" "?"
"00230760" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "Germany" "" "0" "" "" "" "?"
"00230761" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "Germany" "" "0" "" "" "" "?"
"00230762" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "Germany" "" "0" "" "" "" "?"
"00230763" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "Germany" "" "0" "" "" "" "?"
"00230764" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "Germany" "" "0" "" "" "" "?"
"00230765" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "Germany" "" "0" "" "" "" "?"
"00230766" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "Germany" "" "0" "" "" "" "?"
"00230767" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "Germany" "" "0" "" "" "" "?"
"00230768" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "Germany" "" "0" "" "" "" "?"
"00230769" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "Germany" "" "0" "" "" "" "?"
"00230770" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "Germany" "" "0" "" "" "" "?"
"00230771" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "Germany" "" "0" "" "" "" "?"
"00230772" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "Germany" "" "0" "" "" "" "?"
"00230773" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "Germany" "" "0" "" "" "" "?"
"00230774" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "Germany" "" "0" "" "" "" "?"
"00230775" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "Germany" "" "0" "" "" "" "?"
"00230776" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "Germany" "" "0" "" "" "" "?"
"00230777" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "Germany" "" "0" "" "" "" "?"
"00230778" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "Germany" "" "0" "" "" "" "?"
"00230779" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "Germany" "" "0" "" "" "" "?"
"00230780" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "Germany" "" "0" "" "" "" "?"
"00230781" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "Germany" "" "0" "" "" "" "?"
"00230782" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "Germany" "" "0" "" "" "" "?"
"00230783" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "Germany" "" "0" "" "" "" "?"
"00230784" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "France" "" "0" "" "" "" "?"
"00230785" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "France" "" "0" "" "" "" "?"
"00230786" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "France" "" "0" "" "" "" "?"
"00230787" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "France" "" "0" "" "" "" "?"
"00230788" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "France" "" "0" "" "" "" "?"
"00230789" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "France" "" "0" "" "" "" "?"
"00230790" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "France" "" "0" "" "" "" "?"
"00230791" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "France" "" "0" "" "" "" "?"
"00230792" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "France" "" "0" "" "" "" "?"
"00230793" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "France" "" "0" "" "" "" "?"
"00230794" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "France" "" "0" "" "" "" "?"
"00230795" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "France" "" "0" "" "" "" "?"
"00230796" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "France" "" "0" "" "" "" "?"
"00230797" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "France" "" "0" "" "" "" "?"
"00230798" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "France" "" "0" "" "" "" "?"
"00230799" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "France" "" "0" "" "" "" "?"
"00230800" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "France" "" "0" "" "" "" "?"
"00230801" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "France" "" "0" "" "" "" "?"
"00230802" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "France" "" "0" "" "" "" "?"
"00230803" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "France" "" "0" "" "" "" "?"
"00230804" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "France" "" "0" "" "" "" "?"
"00230805" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "France" "" "0" "" "" "" "?"
"00230806" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "France" "" "0" "" "" "" "?"
"00230807" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "France" "" "0" "" "" "" "?"
"00230808" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "France" "" "0" "" "" "" "?"
"00230809" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "France" "" "0" "" "" "" "?"
"00230810" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "France" "" "0" "" "" "" "?"
"00230811" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "France" "" "0" "" "" "" "?"
"00230812" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "France" "" "0" "" "" "" "?"
"00230813" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "France" "" "0" "" "" "" "?"
"00230814" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "France" "" "0" "" "" "" "?"
"00230815" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "France" "" "0" "" "" "" "?"
"00230816" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "France" "" "0" "" "" "" "?"
"00230817" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "Germany" "" "0" "" "" "" "?"
"00230818" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "Germany" "" "0" "" "" "" "?"
"00230819" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "Germany" "" "0" "" "" "" "?"
"00230820" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "France" "" "0" "" "" "" "?"
"00230821" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "Germany" "" "0" "" "" "" "?"
"00230822" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "France" "" "0" "" "" "" "?"
"00230823" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "Germany" "" "0" "" "" "" "?"
"00230824" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "Germany" "" "0" "" "" "" "?"
"00230825" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "Germany" "" "0" "" "" "" "?"
"00230826" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "France" "" "0" "" "" "" "?"
"00230827" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "Germany" "" "0" "" "" "" "?"
"00230828" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "Germany" "" "0" "" "" "" "?"
"00230829" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "Germany" "" "0" "" "" "" "?"
"00230830" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "Germany" "" "0" "" "" "" "?"
"00230831" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "Germany" "" "0" "" "" "" "?"
"00230832" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "Germany" "" "0" "" "" "" "?"
"00230833" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "Germany" "" "0" "" "" "" "?"
"00230834" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "Germany" "" "0" "" "" "" "?"
"00230835" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "Germany" "" "0" "" "" "" "?"
"00230836" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "Germany" "" "0" "" "" "" "?"
"00230837" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "Germany" "" "0" "" "" "" "?"
"00230838" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "France" "" "0" "" "" "" "?"
"00230839" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "Germany" "" "0" "" "" "" "?"
"00230840" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "Germany" "" "0" "" "" "" "?"
"00230841" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "Germany" "" "0" "" "" "" "?"
"00230842" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "Germany" "" "0" "" "" "" "?"
"00230843" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "Germany" "" "0" "" "" "" "?"
"00230844" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "Germany" "" "0" "" "" "" "?"
"00230845" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "Germany" "" "0" "" "" "" "?"
"00230846" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "Germany" "" "0" "" "" "" "?"
"00230847" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "Germany" "" "0" "" "" "" "?"
"00230848" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "France" "" "0" "" "" "" "?"
"00230849" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "Germany" "" "0" "" "" "" "?"
"00230850" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "Germany" "" "0" "" "" "" "?"
"00230851" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "Germany" "" "0" "" "" "" "?"
"00230852" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "Germany" "" "0" "" "" "" "?"
"00230853" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "France" "" "0" "" "" "" "?"
"00230854" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "Germany" "" "0" "" "" "" "?"
"00230855" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "Germany" "" "0" "" "" "" "?"
"00230856" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "Germany" "" "0" "" "" "" "?"
"00230857" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "Germany" "" "0" "" "" "" "?"
"00230858" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "Germany" "" "0" "" "" "" "?"
"00230859" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "Germany" "" "0" "" "" "" "?"
"00230860" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "Germany" "" "0" "" "" "" "?"
"00230861" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "Germany" "" "0" "" "" "" "?"
"00230862" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "Germany" "" "0" "" "" "" "?"
"00230863" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "Germany" "" "0" "" "" "" "?"
"00230864" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "Germany" "" "0" "" "" "" "?"
"00230865" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "Germany" "" "0" "" "" "" "?"
"00230866" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "Germany" "" "0" "" "" "" "?"
"00230867" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "Germany" "" "0" "" "" "" "?"
"00230868" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "Germany" "" "0" "" "" "" "?"
"00230869" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "Germany" "" "0" "" "" "" "?"
"00230870" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "Germany" "" "0" "" "" "" "?"
"00230871" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "Germany" "" "0" "" "" "" "?"
"00230872" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "Germany" "" "0" "" "" "" "?"
"00230873" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "Germany" "" "0" "" "" "" "?"
"00230874" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "Germany" "" "0" "" "" "" "?"
"00230875" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "Germany" "" "0" "" "" "" "?"
"00230876" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "Germany" "" "0" "" "" "" "?"
"00230877" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "France" "" "0" "" "" "" "?"
"00230878" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "France" "" "0" "" "" "" "?"
"00230879" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "France" "" "0" "" "" "" "?"
"00230880" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "Germany" "" "0" "" "" "" "?"
"00230881" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "Germany" "" "0" "" "" "" "?"
"00230882" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "Germany" "" "0" "" "" "" "?"
"00230883" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "Germany" "" "0" "" "" "" "?"
"00230884" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "Germany" "" "0" "" "" "" "?"
"00230885" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "France" "" "0" "" "" "" "?"
"00230886" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "Germany" "" "0" "" "" "" "?"
"00230887" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "Germany" "" "0" "" "" "" "?"
"00230888" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "Germany" "" "0" "" "" "" "?"
"00230889" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "Germany" "" "0" "" "" "" "?"
"00230890" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "Germany" "" "0" "" "" "" "?"
"00230891" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "Germany" "" "0" "" "" "" "?"
"00230892" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "France" "" "0" "" "" "" "?"
"00230893" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "Germany" "" "0" "" "" "" "?"
"00230894" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "France" "" "0" "" "" "" "?"
"00230895" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "France" "" "0" "" "" "" "?"
"00230896" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "France" "" "0" "" "" "" "?"
"00230897" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "France" "" "0" "" "" "" "?"
"00230898" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "France" "" "0" "" "" "" "?"
"00230899" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "France" "" "0" "" "" "" "?"
"00230900" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "France" "" "0" "" "" "" "?"
"00230901" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "France" "" "0" "" "" "" "?"
"00230902" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "France" "" "0" "" "" "" "?"
"00230903" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "France" "" "0" "" "" "" "?"
"00230904" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "France" "" "0" "" "" "" "?"
"00230905" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "France" "" "0" "" "" "" "?"
"00230906" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "France" "" "0" "" "" "" "?"
"00230907" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "France" "" "0" "" "" "" "?"
"00230908" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "France" "" "0" "" "" "" "?"
"00230909" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "France" "" "0" "" "" "" "?"
"00230910" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "France" "" "0" "" "" "" "?"
"00230911" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "France" "" "0" "" "" "" "?"
"00230912" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "France" "" "0" "" "" "" "?"
"00230913" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "France" "" "0" "" "" "" "?"
"00230914" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "France" "" "0" "" "" "" "?"
"00230915" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "France" "" "0" "" "" "" "?"
"00230916" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "France" "" "0" "" "" "" "?"
"00230917" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "France" "" "0" "" "" "" "?"
"00230918" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "France" "" "0" "" "" "" "?"
"00230919" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "France" "" "0" "" "" "" "?"
"00230920" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "France" "" "0" "" "" "" "?"
"00230921" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "France" "" "0" "" "" "" "?"
"00230922" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "France" "" "0" "" "" "" "?"
"00230923" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "France" "" "0" "" "" "" "?"
"00230924" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "France" "" "0" "" "" "" "?"
"00230925" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "France" "" "0" "" "" "" "?"
"00230926" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "France" "" "0" "" "" "" "?"
"00230927" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "France" "" "0" "" "" "" "?"
"00230928" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "France" "" "0" "" "" "" "?"
"00230929" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "France" "" "0" "" "" "" "?"
"00230930" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "France" "" "0" "" "" "" "?"
"00230931" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "France" "" "0" "" "" "" "?"
"00230932" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "France" "" "0" "" "" "" "?"
"00230933" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "France" "" "0" "" "" "" "?"
"00230934" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "France" "" "0" "" "" "" "?"
"00230935" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "France" "" "0" "" "" "" "?"
"00230936" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "France" "" "0" "" "" "" "?"
"00230937" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "France" "" "0" "" "" "" "?"
"00230938" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "France" "" "0" "" "" "" "?"
"00230939" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "France" "" "0" "" "" "" "?"
"00230940" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "France" "" "0" "" "" "" "?"
"00230941" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "France" "" "0" "" "" "" "?"
"00230942" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "France" "" "0" "" "" "" "?"
"00230943" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "France" "" "0" "" "" "" "?"
"00230944" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "France" "" "0" "" "" "" "?"
"00230945" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "France" "" "0" "" "" "" "?"
"00230946" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "France" "" "0" "" "" "" "?"
"00230947" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "France" "" "0" "" "" "" "?"
"00230948" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "" "France" "" "0" "" "" "" "?"
"00231908" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00231909" "" "" "" "47" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00231910" "" "" "" "47" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00231911" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00231912" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00231913" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00231914" "" "" "" "5" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00231915" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00231916" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00231917" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00231918" "" "" "" "9" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00231919" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00231920" "" "" "" "2" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00231921" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00231922" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00231923" "" "" "" "12" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00231924" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00231925" "" "" "" "2" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00231926" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00231927" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00231928" "" "" "" "5" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00231929" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00231930" "" "" "" "2" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00231931" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00231932" "" "" "" "2" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00231933" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00231934" "" "" "" "3" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00231935" "" "" "" "94" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1203 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00231936" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00231937" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00231938" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00231939" "" "" "" "38" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
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"00240507" "" "" "" "2" "" "03336" "{PMID:Hu 2019:31543898}" "" "M" "no" "China" "" "" "yes" "none" "Asian" "P16"
"00241229" "" "" "" "2" "" "03336" "{PMID:Hu 2019:31543898}" "" "M" "no" "China" "" "" "yes" "none" "Asian" "P17"
"00241230" "" "" "" "1" "" "03336" "{PMID:Hu 2019:31543898}" "" "F" "" "China" "" "" "yes" "none" "Asian" "P18"
"00241231" "" "" "" "1" "" "03336" "{PMID:Hu 2019:31543898}" "" "M" "no" "China" "" "" "yes" "none" "Asian" "P19"
"00241233" "" "" "" "1" "" "03336" "{PMID:Hu 2019:31543898}" "" "F" "no" "China" "" "" "yes" "none" "Asian" "P20"
"00241234" "" "" "" "1" "" "03336" "{PMID:Hu 2019:31543898}" "" "F" "no" "China" "" "" "yes" "none" "Asian" "P21"
"00241237" "" "" "" "1" "" "03336" "{PMID:Hu 2019:31543898}" "" "F" "" "China" "" "" "yes" "none" "Asian" "P22"
"00241238" "" "" "" "1" "" "03336" "{PMID:Hu 2019:31543898}" "" "M" "no" "China" "" "" "yes" "none" "Asian" "P23"
"00241243" "" "" "" "1" "" "03336" "{PMID:Hu 2019:31543898}" "" "F" "no" "China" "" "" "yes" "none" "Asian" "P25"
"00241245" "" "" "" "1" "" "03336" "{PMID:Hu 2019:31543898}" "" "F" "no" "China" "" "" "yes" "none" "Asian" "P26"
"00241247" "" "" "" "2" "" "03336" "{PMID:Hu 2019:31543898}" "" "F" "no" "China" "" "" "yes" "none" "Asian" "P27"
"00241250" "" "" "" "1" "" "03336" "{PMID:Hu 2019:31543898}" "" "M" "no" "China" "" "" "yes" "none" "Asian" "P28"
"00241976" "" "" "" "1" "" "03336" "{PMID:Hu 2019:31543898}" "" "M" "" "China" "" "" "yes" "none" "Asian" "P29"
"00243307" "" "" "" "1" "" "03336" "{PMID:Hu 2019:31543898}" "" "F" "no" "China" "" "" "no" "none" "Asian" "P30"
"00243308" "" "" "" "1" "" "03336" "{PMID:Hu 2019:31543898}" "" "F" "no" "China" "" "" "" "none" "Asian" "P31"
"00243309" "" "" "" "1" "" "03336" "{PMID:Hu 2019:31543898}" "" "F" "" "China" "" "" "no" "none" "Asian" "P32"
"00243310" "" "" "" "1" "" "03336" "{PMID:Hu 2019:31543898}" "" "M" "no" "China" "" "" "no" "none" "Asian" "P33"
"00244362" "" "" "" "1" "" "03336" "{PMID:Hu 2019:31543898}" "" "M" "no" "China" "" "" "no" "none" "Asian" "P34"
"00244363" "" "" "" "1" "" "03336" "{PMID:Hu 2019:31543898}" "" "M" "no" "China" "" "" "no" "none" "Asian" "P35"
"00244364" "" "" "" "1" "" "03336" "{PMID:Hu 2019:31543898}" "" "F" "no" "China" "" "" "no" "none" "Asian" "P36"
"00244365" "" "" "" "1" "" "03336" "{PMID:Hu 2019:31543898}" "" "F" "no" "China" "" "" "no" "none" "Asian" "P37"
"00244366" "" "" "" "1" "" "03336" "{PMID:Hu 2019:31543898}" "" "M" "no" "China" "" "" "no" "none" "Asian" "P38"
"00244367" "" "" "" "1" "" "03336" "{PMID:Hu 2019:31543898}" "" "M" "no" "China" "" "" "no" "none" "Asian" "P39"
"00244368" "" "" "" "1" "" "03336" "{PMID:Hu 2019:31543898}" "" "M" "no" "China" "" "" "no" "none" "Asian" "P40"
"00244370" "" "" "" "1" "" "03336" "{PMID:Hu 2019:31543898}" "" "F" "no" "China" "" "" "no" "none" "Asian" "P41"
"00244371" "" "" "" "1" "" "03336" "{PMID:Hu 2019:31543898}" "" "M" "no" "China" "" "" "no" "none" "Asian" "P42"
"00244372" "" "" "" "1" "" "03336" "{PMID:Hu 2019:31543898}" "" "F" "no" "China" "" "" "no" "none" "Asian" "P43"
"00244374" "" "" "" "1" "" "03336" "{PMID:Hu 2019:31543898}" "" "M" "?" "China" "" "" "no" "none" "Asian" "P44"
"00244375" "" "" "" "1" "" "03336" "{PMID:Hu 2019:31543898}" "" "M" "?" "China" "" "" "no" "none" "Asian" "P45"
"00244376" "" "" "" "1" "" "03336" "{PMID:Hu 2019:31543898}" "" "F" "?" "China" "" "" "no" "none" "Asian" "P46"
"00244377" "" "" "" "1" "" "03336" "{PMID:Hu 2019:31543898}" "" "M" "?" "China" "" "" "no" "none" "Asian" "P47"
"00244378" "" "" "" "1" "" "03336" "{PMID:Hu 2019:31543898}" "" "M" "no" "China" "" "" "no" "none" "Asian" "P48"
"00244379" "" "" "" "1" "" "03336" "{PMID:Hu 2019:31543898}" "" "F" "no" "China" "" "" "no" "none" "Asian" "P49"
"00244380" "" "" "" "1" "" "03336" "{PMID:Hu 2019:31543898}" "" "F" "no" "China" "" "" "no" "none" "Asian" "P50"
"00244381" "" "" "" "1" "" "03336" "{PMID:Hu 2019:31543898}" "" "M" "no" "China" "" "" "no" "none" "Asian" "P51"
"00244382" "" "" "" "1" "" "03336" "{PMID:Hu 2019:31543898}" "" "M" "no" "China" "" "" "no" "none" "Asian" "P52"
"00244383" "" "" "" "1" "" "03336" "{PMID:Hu 2019:31543898}" "" "F" "no" "China" "" "" "no" "none" "Asian" "P53"
"00244384" "" "" "" "1" "" "03336" "{PMID:Hu 2019:31543898}" "" "F" "no" "China" "" "" "no" "none" "Asian" "P54"
"00244385" "" "" "" "1" "" "03336" "{PMID:Hu 2019:31543898}" "" "F" "no" "China" "" "" "no" "none" "Asian" "P55"
"00244386" "" "" "" "1" "" "03336" "{PMID:Hu 2019:31543898}" "" "M" "no" "China" "" "" "no" "none" "Asian" "P56"
"00244387" "" "" "" "1" "" "03336" "{PMID:Hu 2019:31543898}" "" "F" "no" "China" "" "" "no" "none" "Asian" "P57"
"00244388" "" "" "" "1" "" "03336" "{PMID:Hu 2019:31543898}" "" "F" "no" "China" "" "" "no" "none" "Asian" "P58"
"00244389" "" "" "" "1" "" "03336" "{PMID:Hu 2019:31543898}" "" "M" "no" "China" "" "" "no" "none" "Asian" "P59"
"00244390" "" "" "" "1" "" "03336" "{PMID:Hu 2019:31543898}" "" "F" "" "China" "" "" "no" "none" "Asian" "P60"
"00244391" "" "" "" "1" "" "03336" "{PMID:Hu 2019:31543898}" "" "M" "no" "China" "" "" "no" "none" "Asian" "P61"
"00244392" "" "" "" "1" "" "03336" "{PMID:Hu 2019:31543898}" "" "F" "no" "China" "" "" "no" "none" "Asian" "P62"
"00244393" "" "" "" "1" "" "03336" "{PMID:Hu 2019:31543898}" "" "F" "no" "China" "" "" "no" "none" "Asian" "P63"
"00244394" "" "" "" "1" "" "03336" "{PMID:Hu 2019:31543898}" "" "F" "?" "China" "" "" "no" "none" "Asian" "P64"
"00244395" "" "" "" "1" "" "03336" "{PMID:Hu 2019:31543898}" "" "F" "?" "China" "" "" "no" "none" "Asian" "P65"
"00244396" "" "" "" "1" "" "03336" "{PMID:Hu 2019:31543898}" "" "M" "?" "China" "" "" "no" "none" "Asian" "P66"
"00244397" "" "" "" "1" "" "03336" "{PMID:Hu 2019:31543898}" "" "M" "?" "China" "" "" "no" "none" "Asian" "P67"
"00244398" "" "" "" "1" "" "03336" "{PMID:Hu 2019:31543898}" "" "F" "no" "China" "" "" "no" "none" "Asian" "P68"
"00244399" "" "" "" "1" "" "03336" "{PMID:Hu 2019:31543898}" "" "F" "?" "China" "" "" "no" "none" "Asian" "P69"
"00244400" "" "" "" "1" "" "03336" "{PMID:Hu 2019:31543898}" "" "M" "no" "China" "" "" "no" "none" "Asian" "P70"
"00244401" "" "" "" "1" "" "03336" "{PMID:Hu 2019:31543898}" "" "M" "?" "China" "" "" "no" "none" "Asian" "P71"
"00244402" "" "" "" "1" "" "03336" "{PMID:Hu 2019:31543898}" "" "F" "no" "China" "" "" "no" "none" "Asian" "P72"
"00244403" "" "" "" "1" "" "03336" "{PMID:Hu 2019:31543898}" "" "F" "" "China" "" "" "no" "none" "Asian" "P73"
"00244404" "" "" "" "1" "" "03336" "{PMID:Hu 2019:31543898}" "" "F" "no" "China" "" "" "no" "none" "Asian" "P74"
"00244405" "" "" "" "1" "" "03336" "{PMID:Hu 2019:31543898}" "" "F" "?" "China" "" "" "" "none" "Asian" "P75"
"00244406" "" "" "" "1" "" "03336" "{PMID:Hu 2019:31543898}" "" "M" "no" "China" "" "" "" "none" "Asian" "P76"
"00244407" "" "" "" "1" "" "03336" "{PMID:Hu 2019:31543898}" "" "M" "no" "China" "" "" "no" "none" "Asian" "P77"
"00244408" "" "" "" "1" "" "03336" "{PMID:Hu 2019:31543898}" "" "M" "?" "China" "" "" "" "none" "Asian" "P78"
"00244409" "" "" "" "1" "" "03336" "{PMID:Hu 2019:31543898}" "" "M" "no" "China" "" "" "no" "none" "Asian" "P79"
"00244410" "" "" "" "1" "" "03336" "" "" "F" "no" "China" "" "0" "no" "none" "Asian" ""
"00244411" "" "" "" "1" "" "03336" "{PMID:Hu 2019:31543898}" "" "F" "?" "China" "" "" "" "none" "Asian" "P80"
"00244413" "" "" "" "1" "" "03336" "{PMID:Hu 2019:31543898}" "" "F" "?" "China" "" "" "no" "none" "Asian" "P81"
"00244414" "" "" "" "1" "" "03336" "{PMID:Hu 2019:31543898}" "" "F" "?" "China" "" "" "" "none" "Asian" "P82"
"00244415" "" "" "" "1" "" "03336" "{PMID:Hu 2019:31543898}" "" "F" "no" "China" "" "" "no" "none" "Asian" "P83"
"00244416" "" "" "" "1" "" "03336" "{PMID:Hu 2019:31543898}" "" "F" "no" "China" "" "" "" "none" "Asian" "P84"
"00244417" "" "" "" "1" "" "03336" "{PMID:Hu 2019:31543898}" "" "M" "no" "China" "" "" "no" "none" "Asian" "P85"
"00244418" "" "" "" "1" "" "03336" "{PMID:Hu 2019:31543898}" "" "M" "no" "China" "" "" "no" "none" "Asian" "P86"
"00265484" "" "" "" "1" "" "03433" "" "" "F" "no" "China" "21y" "0" "" "" "" "43"
"00265487" "" "" "" "1" "" "03433" "" "" "M" "no" "China" ">34y" "0" "" "" "" "60"
"00265488" "" "" "" "1" "" "03433" "" "" "M" "no" "China" ">15y" "0" "" "" "" "148"
"00265490" "" "" "" "1" "" "03433" "" "" "F" "" "(China)" ">12y" "0" "" "" "" "160"
"00265507" "" "" "" "1" "" "03433" "" "" "M" "yes" "China" ">32y" "0" "" "" "" "161"
"00265509" "" "" "" "1" "" "03433" "" "" "F" "" "China" ">19y" "0" "" "" "" "163"
"00265510" "" "" "" "1" "" "03433" "" "" "F" "" "China" ">13y" "0" "" "" "" "105"
"00265512" "" "" "" "1" "" "03433" "" "" "M" "no" "China" ">58y" "0" "" "" "" "4"
"00265513" "" "" "" "1" "" "03433" "" "" "M" "" "China" ">43y" "0" "" "" "" "32"
"00269122" "" "" "" "1" "" "01807" "" "" "M" "" "" "" "0" "" "" "" ""
"00275578" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" ""
"00287098" "" "" "" "1" "" "01807" "" "" "F" "" "" "" "0" "" "" "" ""
"00287100" "" "" "" "1" "" "01807" "" "" "M" "" "" "" "0" "" "" "" ""
"00289927" "" "" "" "235" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00289928" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00289929" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00289930" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00289931" "" "" "" "64" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00289932" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00289933" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00289934" "" "" "" "19" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00289935" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00289936" "" "" "" "4" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00289937" "" "" "" "182" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00289938" "" "" "" "7" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00289939" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00289940" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00289941" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00289943" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00289944" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00295456" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00296031" "" "" "" "1" "" "00006" "{PMID:Blanco-Kelly 2017:28061825}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "no" "Spain" "" "0" "" "" "" "patient"
"00299642" "" "" "" "1" "" "00006" "{PMID:Arno 2017:28132693}" "3-generation family, 1 affeted, unaffected heterozygous carrier parents/relatives" "F" "yes" "" "" "0" "" "" "" "FamGC17880Pat3"
"00304215" "" "" "" "8" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00304216" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00304217" "" "" "" "5" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00304218" "" "" "" "6" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00305956" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" ""
"00306613" "" "" "" "1" "" "01695" "{PMID:Sangermano 2019:30643219}" "" "F" "" "" "" "0" "" "" "" "FamAPatI2"
"00306614" "" "" "" "1" "" "01695" "{PMID:Sangermano 2019:30643219}" "" "F" "" "" "" "0" "" "" "" "FamCPatI2"
"00306615" "" "" "" "1" "" "01695" "{PMID:Sangermano 2019:30643219}" "" "M" "" "" "" "0" "" "" "" "FamDPatIII1"
"00306616" "" "" "" "1" "" "01695" "{PMID:Sangermano 2019:30643219}" "" "F" "" "" "" "0" "" "" "" "FamEPatII1"
"00306617" "" "" "" "1" "" "01695" "{PMID:Sangermano 2019:30643219}" "" "F" "" "" "" "0" "" "" "" "FamFPatII2"
"00306618" "" "" "" "1" "" "01695" "{PMID:Sangermano 2019:30643219}" "" "F" "" "" "" "0" "" "" "" "FamGPatI2"
"00306619" "" "" "" "1" "" "01695" "{PMID:Sangermano 2019:30643219}" "" "F" "" "" "" "0" "" "" "" "FamHPatI2"
"00306620" "" "" "" "1" "" "01695" "{PMID:Sangermano 2019:30643219}" "" "F" "" "" "" "0" "" "" "" "FamIPatII3"
"00306621" "" "" "" "1" "" "01695" "{PMID:Sangermano 2019:30643219}" "" "M" "" "" "" "0" "" "" "" "FamJPatII3"
"00306622" "" "" "" "1" "" "01695" "{PMID:Sangermano 2019:30643219}" "" "M" "" "" "" "0" "" "" "" "FamKPatII1"
"00306623" "" "" "" "1" "" "01695" "{PMID:Sangermano 2019:30643219}" "" "M" "" "" "" "0" "" "" "" "FamLPatII1"
"00306624" "" "" "" "1" "" "01695" "{PMID:Sangermano 2019:30643219}" "" "M" "" "" "" "0" "" "" "" "FamMPatII1"
"00306625" "" "" "" "1" "" "01695" "{PMID:Sangermano 2019:30643219}" "" "M" "" "" "" "0" "" "" "" "FamNPatII3"
"00306626" "" "" "" "1" "" "01695" "{PMID:Sangermano 2019:30643219}" "" "M" "" "" "" "0" "" "" "" "FamOPatI1"
"00306627" "" "" "" "1" "" "01695" "{PMID:Sangermano 2019:30643219}" "" "F" "" "" "" "0" "" "" "" "FamPPatII3"
"00306628" "" "" "" "1" "" "01695" "{PMID:Sangermano 2019:30643219}" "" "M" "" "" "" "0" "" "" "" "FamQPatII1"
"00306629" "" "" "" "1" "" "01695" "{PMID:Sangermano 2019:30643219}" "" "M" "" "" "" "0" "" "" "" "FamRPatII1"
"00306630" "" "" "" "1" "" "01695" "{PMID:Sangermano 2019:30643219}" "" "F" "" "" "" "0" "" "" "" "FamSPatII1"
"00306631" "" "" "" "1" "" "01695" "{PMID:Sangermano 2019:30643219}" "" "F" "" "" "" "0" "" "" "" "FamTPatII1"
"00306632" "" "" "" "1" "" "01695" "{PMID:Sangermano 2019:30643219}" "" "M" "" "" "" "0" "" "" "" "FamUPatII1"
"00306633" "" "" "" "1" "" "01695" "{PMID:Sangermano 2019:30643219}" "" "F" "" "" "" "0" "" "" "" "FamVPatII1"
"00306634" "" "" "" "1" "" "01695" "{PMID:Runhart 2018:29971439}" "" "" "" "" "" "0" "" "" "" "FamAPatII4"
"00306635" "" "" "" "2" "" "01695" "{PMID:Runhart 2018:29971439}" "2-generation family, 2 affected" "" "" "" "" "0" "" "" "" "FamBPatII1"
"00306636" "" "" "00306635" "1" "" "01695" "{PMID:Runhart 2018:29971439}" "FamBPatII3" "" "" "" "" "0" "" "" "" "FamBPatII3"
"00306637" "" "" "" "2" "" "01695" "{PMID:Runhart 2018:29971439}" "2-generation family, 2 affected" "" "" "" "" "0" "" "" "" "FamCPatII1"
"00306638" "" "" "00306637" "1" "" "01695" "{PMID:Runhart 2018:29971439}" "FamCPatII2" "" "" "" "" "0" "" "" "" "FamCPatII2"
"00306639" "" "" "" "2" "" "01695" "{PMID:Runhart 2018:29971439}" "2-generation family, 2 affected" "" "" "" "" "0" "" "" "" "FamDPatII1"
"00306640" "" "" "00306639" "1" "" "01695" "{PMID:Runhart 2018:29971439}" "FamDPatII3" "" "" "" "" "0" "" "" "" "FamDPatII3"
"00306641" "" "" "" "1" "" "01695" "{PMID:Runhart 2018:29971439}" "" "" "" "" "" "0" "" "" "" "FamEPatII3"
"00306642" "" "" "" "1" "" "01695" "{PMID:Runhart 2018:29971439}" "" "" "" "" "" "0" "" "" "" "FamFPatII2"
"00306643" "" "" "" "1" "" "01695" "{PMID:Runhart 2018:29971439}" "" "" "" "" "" "0" "" "" "" "FamGPatII2"
"00306644" "" "" "" "1" "" "01695" "{PMID:Runhart 2018:29971439}" "" "" "" "" "" "0" "" "" "" "FamHPatII3"
"00306645" "" "" "" "1" "" "01695" "{PMID:Runhart 2018:29971439}" "" "" "" "" "" "0" "" "" "" "FamIPatII3"
"00306646" "" "" "" "1" "" "01695" "{PMID:Runhart 2018:29971439}" "" "" "" "" "" "0" "" "" "" "FamJPatII2"
"00306647" "" "" "" "1" "" "01695" "{PMID:Runhart 2018:29971439}" "" "" "" "" "" "0" "" "" "" "FamKPatII1"
"00306648" "" "" "" "1" "" "01695" "{PMID:Runhart 2018:29971439}" "" "" "" "" "" "0" "" "" "" "FamLPatII1"
"00306649" "" "" "" "1" "" "01695" "{PMID:Runhart 2018:29971439}" "" "" "" "" "" "0" "" "" "" "FamMPatII1"
"00306650" "" "" "" "1" "" "01695" "{PMID:Runhart 2018:29971439}" "" "" "" "" "" "0" "" "" "" "FamNPatII1"
"00306651" "" "" "" "1" "" "01695" "{PMID:Runhart 2018:29971439}" "" "" "" "" "" "0" "" "" "" "FamOPatII1"
"00306652" "" "" "" "1" "" "01695" "{PMID:Runhart 2018:29971439}" "" "" "" "" "" "0" "" "" "" "FamPPatII1"
"00306653" "" "" "" "1" "" "01695" "{PMID:Runhart 2018:29971439}" "" "" "" "" "" "0" "" "" "" "FamQPatII1"
"00306654" "" "" "" "1" "" "01695" "{PMID:Runhart 2018:29971439}" "" "" "" "" "" "0" "" "" "" "FamRPatII1"
"00306655" "" "" "" "1" "" "01695" "{PMID:Runhart 2018:29971439}" "" "" "" "" "" "0" "" "" "" "FamSPatII1"
"00306656" "" "" "" "1" "" "01695" "{PMID:Runhart 2018:29971439}" "" "" "" "" "" "0" "" "" "" "FamTPatII1"
"00306657" "" "" "" "1" "" "01695" "{PMID:Runhart 2018:29971439}" "" "" "" "" "" "0" "" "" "" "FamUPatII1"
"00306658" "" "" "" "1" "" "01695" "{PMID:Runhart 2018:29971439}" "" "" "" "" "" "0" "" "" "" "FamVPatII1"
"00306659" "" "" "" "1" "" "01695" "{PMID:Runhart 2018:29971439}" "" "" "" "" "" "0" "" "" "" "FamWPatII1"
"00306660" "" "" "" "1" "" "01695" "{PMID:Runhart 2018:29971439}" "" "" "" "" "" "0" "" "" "" "FamXPatII1"
"00306661" "" "" "" "1" "" "01695" "{PMID:Runhart 2018:29971439}" "" "" "" "" "" "0" "" "" "" "FamYPatII1"
"00306662" "" "" "" "1" "" "01695" "{PMID:Runhart 2018:29971439}" "" "" "" "" "" "0" "" "" "" "FamZPatII1"
"00306722" "" "" "" "1" "" "03336" "{PMID:Hu 2019:31543898}" "" "M" "" "China" "" "0" "" "" "" "P24"
"00306723" "" "" "" "1" "" "00006" "{PMID:Hu 2019:31543898}" "" "" "" "China" "" "0" "" "" "" "P88"
"00306724" "" "" "" "1" "" "00006" "{PMID:Hu 2019:31543898}" "" "" "" "China" "" "0" "" "" "" "P89"
"00306725" "" "" "" "1" "" "00006" "{PMID:Hu 2019:31543898}" "" "" "" "China" "" "0" "" "" "" "P90"
"00306726" "" "" "" "1" "" "00006" "{PMID:Hu 2019:31543898}" "" "" "" "China" "" "0" "" "" "" "P91"
"00308421" "" "" "" "2" "" "00004" "{PMID:Holtan 2020:31429209}" "2 patients with variant in heterozygous or compound heterozygous form" "" "" "Norway" "" "0" "" "" "" ""
"00308422" "" "" "" "2" "" "00004" "{PMID:Holtan 2020:31429209}" "2 patients with variant in heterozygous or compound heterozygous form" "" "" "Norway" "" "0" "" "" "" ""
"00308423" "" "" "" "1" "" "00004" "{PMID:Holtan 2020:31429209}" "1 patient with variant in heterozygous or compound heterozygous form" "" "" "Norway" "" "0" "" "" "" ""
"00308424" "" "" "" "1" "" "00004" "{PMID:Holtan 2020:31429209}" "1 patient with variant in heterozygous or compound heterozygous form" "" "" "Norway" "" "0" "" "" "" ""
"00308425" "" "" "" "1" "" "00004" "{PMID:Holtan 2020:31429209}" "1 patient with variant in heterozygous or compound heterozygous form" "" "" "Norway" "" "0" "" "" "" ""
"00308426" "" "" "" "2" "" "00004" "{PMID:Holtan 2020:31429209}" "2 patients with variant in heterozygous or compound heterozygous form" "" "" "Norway" "" "0" "" "" "" ""
"00308427" "" "" "" "1" "" "00004" "{PMID:Holtan 2020:31429209}" "1 patient with variant in heterozygous or compound heterozygous form" "" "" "Norway" "" "0" "" "" "" ""
"00308428" "" "" "" "1" "" "00004" "{PMID:Holtan 2020:31429209}" "1 patient with variant in heterozygous or compound heterozygous form" "" "" "Norway" "" "0" "" "" "" ""
"00308429" "" "" "" "1" "" "00004" "{PMID:Holtan 2020:31429209}" "1 patient with variant in heterozygous or compound heterozygous form" "" "" "Norway" "" "0" "" "" "" ""
"00308430" "" "" "" "5" "" "00004" "{PMID:Holtan 2020:31429209}" "5 patients with variant in heterozygous or compound heterozygous form" "" "" "Norway" "" "0" "" "" "" ""
"00308431" "" "" "" "1" "" "00004" "{PMID:Holtan 2020:31429209}" "1 patient with variant in heterozygous or compound heterozygous form" "" "" "Norway" "" "0" "" "" "" ""
"00308432" "" "" "" "1" "" "00004" "{PMID:Holtan 2020:31429209}" "1 patient with variant in heterozygous or compound heterozygous form" "" "" "Norway" "" "0" "" "" "" ""
"00308433" "" "" "" "1" "" "00004" "{PMID:Holtan 2020:31429209}" "1 patient with variant in heterozygous or compound heterozygous form" "" "" "Norway" "" "0" "" "" "" ""
"00308434" "" "" "" "2" "" "00004" "{PMID:Holtan 2020:31429209}" "2 patients with variant in heterozygous or compound heterozygous form" "" "" "Norway" "" "0" "" "" "" ""
"00308435" "" "" "" "1" "" "00004" "{PMID:Holtan 2020:31429209}" "1 patient with variant in heterozygous or compound heterozygous form" "" "" "Norway" "" "0" "" "" "" ""
"00308436" "" "" "" "7" "" "00004" "{PMID:Holtan 2020:31429209}" "7 patients with variant in heterozygous or compound heterozygous form" "" "" "Norway" "" "0" "" "" "" ""
"00308437" "" "" "" "1" "" "00004" "{PMID:Holtan 2020:31429209}" "1 patient with variant in heterozygous or compound heterozygous form" "" "" "Norway" "" "0" "" "" "" ""
"00308438" "" "" "" "5" "" "00004" "{PMID:Holtan 2020:31429209}" "5 patients with variant in heterozygous or compound heterozygous form" "" "" "Norway" "" "0" "" "" "" ""
"00308439" "" "" "" "1" "" "00004" "{PMID:Holtan 2020:31429209}" "1 patient with variant in heterozygous or compound heterozygous form" "" "" "Norway" "" "0" "" "" "" ""
"00308440" "" "" "" "1" "" "00004" "{PMID:Holtan 2020:31429209}" "1 patient with variant in heterozygous or compound heterozygous form" "" "" "Norway" "" "0" "" "" "" ""
"00308441" "" "" "" "1" "" "00004" "{PMID:Holtan 2020:31429209}" "1 patient with variant in heterozygous or compound heterozygous form" "" "" "Norway" "" "0" "" "" "" ""
"00308442" "" "" "" "6" "" "00004" "{PMID:Holtan 2020:31429209}" "6 patients with variant in heterozygous or compound heterozygous form" "" "" "Norway" "" "0" "" "" "" ""
"00308443" "" "" "" "1" "" "00004" "{PMID:Holtan 2020:31429209}" "1 patient with variant in heterozygous or compound heterozygous form" "" "" "Norway" "" "0" "" "" "" ""
"00308444" "" "" "" "2" "" "00004" "{PMID:Holtan 2020:31429209}" "2 patients with variant in heterozygous or compound heterozygous form" "" "" "Norway" "" "0" "" "" "" ""
"00308445" "" "" "" "1" "" "00004" "{PMID:Holtan 2020:31429209}" "1 patient with variant in heterozygous or compound heterozygous form" "" "" "Norway" "" "0" "" "" "" ""
"00308446" "" "" "" "1" "" "00004" "{PMID:Holtan 2020:31429209}" "1 patient with variant in heterozygous or compound heterozygous form" "" "" "Norway" "" "0" "" "" "" ""
"00308447" "" "" "" "1" "" "00004" "{PMID:Holtan 2020:31429209}" "1 patient with variant in heterozygous or compound heterozygous form" "" "" "Norway" "" "0" "" "" "" ""
"00308448" "" "" "" "5" "" "00004" "{PMID:Holtan 2020:31429209}" "5 patients with variant in heterozygous or compound heterozygous form" "" "" "Norway" "" "0" "" "" "" ""
"00308449" "" "" "" "2" "" "00004" "{PMID:Holtan 2020:31429209}" "2 patients with variant in heterozygous or compound heterozygous form" "" "" "Norway" "" "0" "" "" "" ""
"00308450" "" "" "" "1" "" "00004" "{PMID:Holtan 2020:31429209}" "1 patient with variant in heterozygous or compound heterozygous form" "" "" "Norway" "" "0" "" "" "" ""
"00308451" "" "" "" "1" "" "00004" "{PMID:Holtan 2020:31429209}" "1 patient with variant in heterozygous or compound heterozygous form" "" "" "Norway" "" "0" "" "" "" ""
"00308452" "" "" "" "2" "" "00004" "{PMID:Holtan 2020:31429209}" "2 patients with variant in heterozygous or compound heterozygous form" "" "" "Norway" "" "0" "" "" "" ""
"00308453" "" "" "" "3" "" "00004" "{PMID:Holtan 2020:31429209}" "3 patients with variant in heterozygous or compound heterozygous form" "" "" "Norway" "" "0" "" "" "" ""
"00308454" "" "" "" "1" "" "00004" "{PMID:Holtan 2020:31429209}" "1 patient with variant in heterozygous or compound heterozygous form" "" "" "Norway" "" "0" "" "" "" ""
"00308455" "" "" "" "2" "" "00004" "{PMID:Holtan 2020:31429209}" "2 patients with variant in heterozygous or compound heterozygous form" "" "" "Norway" "" "0" "" "" "" ""
"00308456" "" "" "" "1" "" "00004" "{PMID:Holtan 2020:31429209}" "1 patient with variant in heterozygous or compound heterozygous form" "" "" "Norway" "" "0" "" "" "" ""
"00308457" "" "" "" "1" "" "00004" "{PMID:Holtan 2020:31429209}" "1 patient with variant in heterozygous or compound heterozygous form" "" "" "Norway" "" "0" "" "" "" ""
"00308458" "" "" "" "2" "" "00004" "{PMID:Holtan 2020:31429209}" "2 patients with variant in heterozygous or compound heterozygous form" "" "" "Norway" "" "0" "" "" "" ""
"00308459" "" "" "" "1" "" "00004" "{PMID:Holtan 2020:31429209}" "1 patient with variant in heterozygous or compound heterozygous form" "" "" "Norway" "" "0" "" "" "" ""
"00308460" "" "" "" "13" "" "00004" "{PMID:Holtan 2020:31429209}" "13 patients with variant in heterozygous or compound heterozygous form" "" "" "Norway" "" "0" "" "" "" ""
"00308461" "" "" "" "9" "" "00004" "{PMID:Holtan 2020:31429209}" "9 patients with variant in heterozygous or compound heterozygous form" "" "" "Norway" "" "0" "" "" "" ""
"00308462" "" "" "" "1" "" "00004" "{PMID:Holtan 2020:31429209}" "1 patient with variant in heterozygous or compound heterozygous form" "" "" "Norway" "" "0" "" "" "" ""
"00308463" "" "" "" "12" "" "00004" "{PMID:Holtan 2020:31429209}" "12 patients with variant in heterozygous or compound heterozygous form" "" "" "Norway" "" "0" "" "" "" ""
"00308464" "" "" "" "1" "" "00004" "{PMID:Holtan 2020:31429209}" "1 patient with variant in heterozygous or compound heterozygous form" "" "" "Norway" "" "0" "" "" "" ""
"00308465" "" "" "" "10" "" "00004" "{PMID:Holtan 2020:31429209}" "10 patients with variant in heterozygous or compound heterozygous form" "" "" "Norway" "" "0" "" "" "" ""
"00308466" "" "" "" "1" "" "00004" "{PMID:Holtan 2020:31429209}" "1 patient with variant in heterozygous or compound heterozygous form" "" "" "Norway" "" "0" "" "" "" ""
"00308467" "" "" "" "2" "" "00004" "{PMID:Holtan 2020:31429209}" "2 patients with variant in heterozygous or compound heterozygous form" "" "" "Norway" "" "0" "" "" "" ""
"00308468" "" "" "" "1" "" "00004" "{PMID:Holtan 2020:31429209}" "1 patient with variant in heterozygous or compound heterozygous form" "" "" "Norway" "" "0" "" "" "" ""
"00308596" "" "" "" "1" "" "00004" "{PMID:Holtan 2020:31429209}" "1 homozygous patient" "" "" "Norway" "" "0" "" "" "" ""
"00308632" "" "" "" "2" "" "00004" "{PMID:Holtan 2020:31429209}" "2 homozygous patients" "" "" "Norway" "" "0" "" "" "" ""
"00308654" "" "" "" "1" "" "00004" "{PMID:Kim 2019:31144483}" "" "" "" "Korea" "" "0" "" "" "" ""
"00308661" "" "" "" "1" "" "00004" "{PMID:Kim 2019:31144483}" "" "" "" "Korea" "" "0" "" "" "" ""
"00308666" "" "" "" "1" "" "00004" "{PMID:Kim 2019:31144483}" "" "" "" "Korea" "" "0" "" "" "" ""
"00308667" "" "" "" "1" "" "00004" "{PMID:Kim 2019:31144483}" "" "" "" "Korea" "" "0" "" "" "" ""
"00308668" "" "" "" "1" "" "00004" "{PMID:Kim 2019:31144483}" "" "" "" "Korea" "" "0" "" "" "" ""
"00308669" "" "" "" "1" "" "00004" "{PMID:Kim 2019:31144483}" "" "" "" "Korea" "" "0" "" "" "" ""
"00308670" "" "" "" "1" "" "00004" "{PMID:Kim 2019:31144483}" "" "" "" "Korea" "" "0" "" "" "" ""
"00308671" "" "" "" "1" "" "00004" "{PMID:Kim 2019:31144483}" "" "" "" "Korea" "" "0" "" "" "" ""
"00308678" "" "" "" "1" "" "00004" "{PMID:Le 2019:31180159}" "analysis 305 unrelated individuals" "" "" "Viet Nam" "" "0" "" "" "" ""
"00308837" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" ""
"00308838" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" ""
"00308839" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" ""
"00308840" "" "" "" "6" "" "00004" "{PMID:Sharon 2019:31456290}" "6 IRD families" "" "" "Israel" "" "0" "" "" "" ""
"00308841" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" ""
"00308842" "" "" "" "4" "" "00004" "{PMID:Sharon 2019:31456290}" "4 IRD families" "" "" "Israel" "" "0" "" "" "" ""
"00308843" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" ""
"00308844" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" ""
"00308845" "" "" "" "9" "" "00004" "{PMID:Sharon 2019:31456290}" "9 IRD families" "" "" "Israel" "" "0" "" "" "" ""
"00308846" "" "" "" "23" "" "00004" "{PMID:Sharon 2019:31456290}" "23 IRD families" "" "" "Israel" "" "0" "" "" "" ""
"00308847" "" "" "" "3" "" "00004" "{PMID:Sharon 2019:31456290}" "3 IRD families" "" "" "Israel" "" "0" "" "" "" ""
"00308848" "" "" "" "55" "" "00004" "{PMID:Sharon 2019:31456290}" "55 IRD families" "" "" "Israel" "" "0" "" "" "" ""
"00308849" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" ""
"00308850" "" "" "" "2" "" "00004" "{PMID:Sharon 2019:31456290}" "2 IRD families" "" "" "Israel" "" "0" "" "" "" ""
"00308851" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" ""
"00308852" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" ""
"00308853" "" "" "" "3" "" "00004" "{PMID:Sharon 2019:31456290}" "3 IRD families" "" "" "Israel" "" "0" "" "" "" ""
"00308854" "" "" "" "5" "" "00004" "{PMID:Sharon 2019:31456290}" "5 IRD families" "" "" "Israel" "" "0" "" "" "" ""
"00308855" "" "" "" "16" "" "00004" "{PMID:Sharon 2019:31456290}" "16 IRD families" "" "" "Israel" "" "0" "" "" "" ""
"00308856" "" "" "" "5" "" "00004" "{PMID:Sharon 2019:31456290}" "5 IRD families" "" "" "Israel" "" "0" "" "" "" ""
"00308857" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" ""
"00308858" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" ""
"00308859" "" "" "" "2" "" "00004" "{PMID:Sharon 2019:31456290}" "2 IRD families" "" "" "Israel" "" "0" "" "" "" ""
"00308860" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" ""
"00308861" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" ""
"00308862" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" ""
"00308863" "" "" "" "2" "" "00004" "{PMID:Sharon 2019:31456290}" "2 IRD families" "" "" "Israel" "" "0" "" "" "" ""
"00308864" "" "" "" "7" "" "00004" "{PMID:Sharon 2019:31456290}" "7 IRD families" "" "" "Israel" "" "0" "" "" "" ""
"00308865" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" ""
"00308866" "" "" "" "2" "" "00004" "{PMID:Sharon 2019:31456290}" "2 IRD families" "" "" "Israel" "" "0" "" "" "" ""
"00308867" "" "" "" "4" "" "00004" "{PMID:Sharon 2019:31456290}" "4 IRD families" "" "" "Israel" "" "0" "" "" "" ""
"00308868" "" "" "" "2" "" "00004" "{PMID:Sharon 2019:31456290}" "2 IRD families" "" "" "Israel" "" "0" "" "" "" ""
"00308869" "" "" "" "2" "" "00004" "{PMID:Sharon 2019:31456290}" "2 IRD families" "" "" "Israel" "" "0" "" "" "" ""
"00308870" "" "" "" "3" "" "00004" "{PMID:Sharon 2019:31456290}" "3 IRD families" "" "" "Israel" "" "0" "" "" "" ""
"00308871" "" "" "" "2" "" "00004" "{PMID:Sharon 2019:31456290}" "2 IRD families" "" "" "Israel" "" "0" "" "" "" ""
"00308872" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" ""
"00308873" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" ""
"00308874" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" ""
"00308875" "" "" "" "2" "" "00004" "{PMID:Sharon 2019:31456290}" "2 IRD families" "" "" "Israel" "" "0" "" "" "" ""
"00308876" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" ""
"00308877" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" ""
"00308878" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" ""
"00308879" "" "" "" "3" "" "00004" "{PMID:Sharon 2019:31456290}" "3 IRD families" "" "" "Israel" "" "0" "" "" "" ""
"00308880" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" ""
"00308881" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" ""
"00308882" "" "" "" "3" "" "00004" "{PMID:Sharon 2019:31456290}" "3 IRD families" "" "" "Israel" "" "0" "" "" "" ""
"00308883" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" ""
"00308884" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" ""
"00308885" "" "" "" "10" "" "00004" "{PMID:Sharon 2019:31456290}" "10 IRD families" "" "" "Israel" "" "0" "" "" "" ""
"00308886" "" "" "" "5" "" "00004" "{PMID:Sharon 2019:31456290}" "5 IRD families" "" "" "Israel" "" "0" "" "" "" ""
"00308887" "" "" "" "6" "" "00004" "{PMID:Sharon 2019:31456290}" "6 IRD families" "" "" "Israel" "" "0" "" "" "" ""
"00308888" "" "" "" "9" "" "00004" "{PMID:Sharon 2019:31456290}" "9 IRD families" "" "" "Israel" "" "0" "" "" "" ""
"00308889" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" ""
"00308890" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" ""
"00308891" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" ""
"00308892" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" ""
"00308893" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" ""
"00308894" "" "" "" "2" "" "00004" "{PMID:Sharon 2019:31456290}" "2 IRD families" "" "" "Israel" "" "0" "" "" "" ""
"00308895" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" ""
"00308896" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" ""
"00308897" "" "" "" "3" "" "00004" "{PMID:Sharon 2019:31456290}" "3 IRD families" "" "" "Israel" "" "0" "" "" "" ""
"00308898" "" "" "" "3" "" "00004" "{PMID:Sharon 2019:31456290}" "3 IRD families" "" "" "Israel" "" "0" "" "" "" ""
"00308899" "" "" "" "3" "" "00004" "{PMID:Sharon 2019:31456290}" "3 IRD families" "" "" "Israel" "" "0" "" "" "" ""
"00308900" "" "" "" "2" "" "00004" "{PMID:Sharon 2019:31456290}" "2 IRD families" "" "" "Israel" "" "0" "" "" "" ""
"00308901" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" ""
"00308902" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" ""
"00308903" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" ""
"00308904" "" "" "" "2" "" "00004" "{PMID:Sharon 2019:31456290}" "2 IRD families" "" "" "Israel" "" "0" "" "" "" ""
"00308905" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" ""
"00308906" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" ""
"00308907" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" ""
"00308908" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" ""
"00308909" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" ""
"00308910" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" ""
"00308911" "" "" "" "3" "" "00004" "{PMID:Sharon 2019:31456290}" "3 IRD families" "" "" "Israel" "" "0" "" "" "" ""
"00308912" "" "" "" "5" "" "00004" "{PMID:Sharon 2019:31456290}" "5 IRD families" "" "" "Israel" "" "0" "" "" "" ""
"00308913" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" ""
"00308914" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" ""
"00308915" "" "" "" "3" "" "00004" "{PMID:Sharon 2019:31456290}" "3 IRD families" "" "" "Israel" "" "0" "" "" "" ""
"00308916" "" "" "" "2" "" "00004" "{PMID:Sharon 2019:31456290}" "2 IRD families" "" "" "Israel" "" "0" "" "" "" ""
"00308917" "" "" "" "3" "" "00004" "{PMID:Sharon 2019:31456290}" "3 IRD families" "" "" "Israel" "" "0" "" "" "" ""
"00308918" "" "" "" "7" "" "00004" "{PMID:Sharon 2019:31456290}" "7 IRD families" "" "" "Israel" "" "0" "" "" "" ""
"00308919" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" ""
"00308920" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" ""
"00308921" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" ""
"00309682" "" "" "" "1" "" "00006" "{PMID:Tucker 2011:21825139}" "" "" "" "United States" "" "0" "" "" "Jewish" "patient"
"00310040" "" "" "" "1" "" "03336" "" "" "F" "no" "China" ">19y" "" "yes" "none" "Asian" "F1:Ⅱ:2"
"00310043" "" "" "" "1" "" "03336" "" "" "M" "no" "China" ">31y" "" "yes" "none" "Asian" "F2:Ⅱ:1"
"00310044" "" "" "" "1" "" "03336" "" "" "F" "no" "China" ">08y" "" "yes" "none" "Asian" "F3:Ⅱ:1"
"00310046" "" "" "" "1" "" "03336" "" "" "M" "no" "China" ">22y" "" "yes" "none" "Asian" "F4:Ⅱ:1"
"00310048" "" "" "" "1" "" "03336" "" "" "F" "no" "China" ">39y" "" "yes" "none" "Asian" "F5:Ⅱ:1"
"00310049" "" "" "" "1" "" "03336" "" "" "F" "no" "China" ">28y" "" "yes" "none" "Asian" "F6:Ⅱ:1"
"00310050" "" "" "" "1" "" "03336" "" "" "M" "no" "China" ">28y" "" "yes" "none" "Asian" "F7:Ⅱ:1"
"00310051" "" "" "" "1" "" "03336" "" "" "M" "no" "China" ">22y" "" "yes" "none" "Asian" "F8:Ⅱ:1"
"00310053" "" "" "" "1" "" "03336" "" "" "F" "no" "China" ">10y" "" "yes" "none" "Asian" "F9:Ⅱ:1"
"00310054" "" "" "" "1" "" "03336" "" "" "M" "" "China" ">20y" "" "yes" "none" "Asian" "F10:Ⅱ:2"
"00310055" "" "" "" "1" "" "03336" "" "" "M" "no" "China" ">13y" "" "yes" "none" "Asian" "F11:Ⅱ:2"
"00310056" "" "" "" "1" "" "03336" "" "" "M" "no" "China" ">16y" "0" "yes" "none" "Asian" "F12:Ⅱ:1"
"00311039" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" ""
"00319823" "" "" "" "1" "" "00008" "{PMID:Scholl 2001:11372548}" "" "F" "" "" "" "0" "" "" "" ""
"00319824" "" "" "" "1" "" "00008" "{PMID:Scholl 2001:11372548}" "" "M" "" "" "" "0" "" "" "" ""
"00320005" "" "" "" "1" "" "03846" "Zixi Sun 2020, submitted" "" "F" "" "China" "" "0" "" "" "" "6007"
"00320069" "" "" "" "1" "" "03846" "Zixi Sun 2020, submitted" "" "M" "" "China" "" "0" "" "" "" "6706"
"00320070" "" "" "" "1" "" "03846" "Zixi Sun 2020, submitted" "" "F" "" "China" "" "0" "" "" "" "8667"
"00320071" "" "" "" "3" "" "03846" "Zixi Sun 2020, submitted" "family, 3 affected" "M" "" "China" "" "0" "" "" "" "2217"
"00320072" "" "" "00320071" "1" "" "03846" "Zixi Sun 2020, submitted" "" "F" "" "China" "" "0" "" "" "" "2217-1"
"00320073" "" "" "00320071" "1" "" "03846" "Zixi Sun 2020, submitted" "" "M" "" "China" "" "0" "" "" "" "2217-2"
"00320177" "" "" "" "1" "" "01807" "" "" "M" "" "" "" "0" "" "" "" ""
"00320199" "" "" "" "1" "" "03846" "Zixi Sun 2020, submitted" "" "M" "" "China" "" "0" "" "" "" "3749"
"00320200" "" "" "" "1" "" "03846" "Zixi Sun 2020, submitted" "" "F" "" "China" "" "0" "" "" "" "2407"
"00320201" "" "" "" "1" "" "03846" "Zixi Sun 2020, submitted" "" "F" "" "China" "" "0" "" "" "" "8710"
"00320202" "" "" "" "1" "" "03846" "Zixi Sun 2020, submitted" "" "M" "" "China" "" "0" "" "" "" "7427"
"00320203" "" "" "" "1" "" "03846" "Zixi Sun 2020,submitted" "" "M" "" "China" "" "0" "" "" "" "4893"
"00320204" "" "" "" "1" "" "03846" "Zixi Sun 2020, submitted" "" "M" "" "China" "" "0" "" "" "" "7687"
"00320205" "" "" "" "1" "" "03846" "Zixi Sun 2020, submitted" "" "M" "" "China" "" "0" "" "" "" "8640"
"00320206" "" "" "" "1" "" "03846" "Zixi Sun 2020, submitted" "" "M" "" "China" "" "0" "" "" "" "7189"
"00320207" "" "" "" "1" "" "03846" "Zixi Sun 2020, submitted" "" "M" "" "China" "" "0" "" "" "" "7087"
"00320208" "" "" "" "1" "" "03846" "Zixi Sun 2020,submitted" "" "M" "" "China" "" "0" "" "" "" "1411"
"00320234" "" "" "" "1" "" "03846" "Zixi Sun 2020, submitted" "" "F" "" "China" "" "" "" "" "" "7878"
"00320235" "" "" "" "2" "" "03846" "Zixi Sun 2020, submitted" "" "F" "" "China" "" "" "" "" "" "3001"
"00320236" "" "" "00320071" "1" "" "03846" "Zixi Sun 2020,submitted" "" "F" "" "China" "" "" "" "" "" "SRF844"
"00320237" "" "" "" "1" "" "03846" "Zixi Sun 2020, submitted" "" "F" "" "China" "" "" "" "" "" "SRF982"
"00320238" "" "" "" "1" "" "03846" "Zixi Sun 2020, submitted" "" "M" "" "China" "" "0" "" "" "" "5312"
"00320239" "" "" "" "2" "" "03846" "Zixi Sun 2020, submitted" "" "M" "" "China" "" "" "" "" "" "HS04"
"00320240" "" "" "00320239" "1" "" "03846" "Zixi Sun 2020, submitted" "" "F" "" "China" "" "" "" "" "" "6064"
"00320241" "" "" "" "1" "" "03846" "Zixi Sun 2020, submitted" "" "F" "" "China" "" "" "" "" "" "4793"
"00320242" "" "" "" "1" "" "03846" "Zixi Sun 2020, submitted" "" "F" "" "China" "" "" "" "" "" "2759"
"00320246" "" "" "" "1" "" "03846" "Zixi Sun 2020, submitted" "" "F" "" "China" "" "" "" "" "" "5504"
"00320247" "" "" "" "1" "" "03846" "Zixi Sun 2020, submitted" "" "F" "" "China" "" "" "" "" "" "6081"
"00320248" "" "" "" "1" "" "03846" "Zixi Sun 2020, submitted" "" "F" "" "China" "" "" "" "" "" "6683"
"00320249" "" "" "" "1" "" "03846" "Zixi Sun 2020, submitted" "" "M" "" "China" "" "" "" "" "" "2243"
"00320325" "" "" "" "1" "" "03846" "Zixi Sun 2020, submitted" "" "M" "" "China" "" "" "" "" "" "4014"
"00320326" "" "" "" "1" "" "03846" "Zixi Sun 2020, submitted" "" "M" "" "China" "" "" "" "" "" "R02"
"00320327" "" "" "" "1" "" "03846" "Zixi Sun 2020, submitted" "" "M" "" "China" "" "" "" "" "" "R03"
"00320328" "" "" "" "1" "" "03846" "Zixi Sun 2020, submitted" "" "F" "" "China" "" "" "" "" "" "SRF1118"
"00320329" "" "" "" "1" "" "03846" "Zixi Sun 2020, submitted" "" "M" "" "China" "" "" "" "" "" "SRF1031"
"00320330" "" "" "" "1" "" "03846" "Zixi Sun 2020, submitted" "" "M" "" "China" "" "" "" "" "" "1800"
"00320331" "" "" "" "1" "" "03846" "Zixi Sun 2020, submitted" "" "F" "" "China" "" "" "" "" "" "1870"
"00320352" "" "" "" "1" "" "03846" "Zixi Sun 2020, submitted" "" "M" "" "China" "" "" "" "" "" "3999"
"00320353" "" "" "" "1" "" "03846" "Zixi Sun 2020, submitted" "" "M" "" "China" "" "" "" "" "" "3582"
"00320354" "" "" "" "1" "" "03846" "Zixi Sun 2020, submitted" "" "M" "" "China" "" "" "" "" "" "5084"
"00320355" "" "" "" "1" "" "03846" "Zixi Sun 2020, submitted" "" "M" "" "China" "" "" "" "" "" "0617"
"00320356" "" "" "" "1" "" "03846" "Zixi Sun 2020, submitted" "" "F" "" "China" "" "" "" "" "" "5349"
"00320438" "" "" "" "1" "" "03846" "Zixi Sun 2020, submitted" "" "F" "" "China" "" "" "" "" "" "2242"
"00320439" "" "" "" "1" "" "03846" "Zixi Sun 2020, submitted" "" "M" "" "China" "" "" "" "" "" "5099"
"00320440" "" "" "" "1" "" "03846" "Zixi Sun 2020, submitted" "" "M" "" "China" "" "" "" "" "" "5463"
"00320442" "" "" "" "1" "" "03846" "Zixi Sun 2020, submitted" "" "M" "" "China" "" "" "" "" "" "7890"
"00320448" "" "" "" "1" "" "03846" "Zixi Sun 2020, submitted" "" "F" "" "China" "" "" "" "" "" "9289"
"00320451" "" "" "" "3" "" "03846" "Zixi Sun 2020, submitted" "" "M" "" "China" "" "" "" "" "" "2264"
"00320453" "" "" "00320451" "1" "" "03846" "Zixi Sun 2020, submitted" "" "M" "" "China" "" "" "" "" "" "2264-1"
"00320454" "" "" "00320451" "1" "" "03846" "Zixi Sun 2020, submitted" "" "F" "" "China" "" "" "" "" "" "2264-2"
"00320456" "" "" "" "2" "" "03846" "Zixi Sun 2020, submitted" "" "F" "" "China" "" "" "" "" "" "4601"
"00320457" "" "" "00320456" "1" "" "03846" "Zixi Sun 2020, submitted" "" "F" "" "China" "" "0" "" "" "" "4601-1"
"00320459" "" "" "" "1" "" "03846" "Zixi Sun 2020, submitted" "" "F" "" "China" "" "" "" "" "" "8442"
"00320460" "" "" "" "1" "" "03846" "Zixi Sun 2020, submitted" "" "F" "" "China" "" "" "" "" "" "8465"
"00322823" "" "" "" "1" "" "03846" "Zixi Sun 2020, submitted" "" "M" "" "China" "" "" "" "" "" "8054"
"00324146" "" "" "" "1" "" "03846" "Zixi Sun 2020, submitted" "" "F" "" "China" "" "" "" "" "" "6012"
"00324147" "" "" "" "2" "" "03846" "Zixi Sun 2020, submitted" "" "F" "" "China" "" "0" "" "" "" "5142"
"00324148" "" "" "00324147" "1" "" "03846" "Zixi Sun 2020, submitted" "" "M" "" "China" "" "" "" "" "" "SRF1085"
"00324149" "" "" "" "1" "" "03846" "Zixi Sun 2020, submitted" "" "F" "" "China" "" "" "" "" "" "6686"
"00324150" "" "" "" "1" "" "03846" "Zixi Sun 2020, submitted" "" "M" "" "China" "" "" "" "" "" "3964"
"00324151" "" "" "" "1" "" "03846" "Zixi Sun 2020, submitted" "" "M" "" "China" "" "" "" "" "" "6135"
"00324152" "" "" "" "1" "" "03846" "Zixi Sun 2020, submitted" "" "F" "" "China" "" "" "" "" "" "3503"
"00324153" "" "" "" "1" "" "03846" "Zixi Sun 2020, submitted" "" "M" "" "China" "" "" "" "" "" "8052"
"00324154" "" "" "" "1" "" "03846" "Zixi Sun 2020, submitted" "" "M" "" "China" "" "" "" "" "" "3272"
"00324155" "" "" "" "1" "" "03846" "Zixi Sun 2020, submitted" "" "F" "" "China" "" "0" "" "" "" "6960"
"00324156" "" "" "" "1" "" "03846" "Zixi Sun 2020, submitted" "" "F" "" "China" "" "" "" "" "" "8124"
"00324518" "" "" "" "1" "" "03957" "-" "-" "F" "no" "China" ">34y" "" "yes" "none" "-" "A1"
"00324520" "" "" "" "1" "" "03957" "-" "-" "F" "no" "China" ">38y" "" "yes" "none" "-" "B1"
"00324560" "" "" "" "1" "" "03957" "" "" "M" "no" "China" ">33y" "" "yes" "none" "-" "B2"
"00324561" "" "" "" "1" "" "03957" "" "" "M" "no" "China" ">07y" "" "yes" "none" "-" "B3"
"00324562" "" "" "" "1" "" "03957" "" "" "F" "no" "China" ">27y" "" "yes" "none" "-" "B4"
"00324579" "" "" "" "1" "" "03957" "" "" "M" "no" "China" ">18y" "" "yes" "none" "-" "B5"
"00324580" "" "" "" "1" "" "03957" "" "" "F" "no" "China" ">10y" "" "yes" "none" "-" "A2"
"00324581" "" "" "" "1" "" "03957" "" "" "M" "no" "China" ">22y" "0" "yes" "none" "-" "A3"
"00324582" "" "" "" "1" "" "03957" "" "" "M" "no" "China" ">20y" "" "yes" "none" "-" "A4"
"00324584" "" "" "" "1" "" "03957" "" "" "M" "no" "China" ">17y" "" "yes" "none" "-" "A5"
"00324585" "" "" "" "1" "" "03957" "" "" "M" "no" "China" ">17y" "" "yes" "none" "-" "B6"
"00324586" "" "" "" "1" "" "03957" "" "" "F" "no" "China" ">12y" "" "yes" "none" "-" "B7"
"00324587" "" "" "" "1" "" "03957" "" "" "M" "no" "China" ">12y" "" "yes" "none" "-" "B8"
"00324588" "" "" "" "1" "" "03957" "" "" "F" "no" "China" ">16y" "" "yes" "none" "-" "B9"
"00324589" "" "" "" "1" "" "03957" "" "" "M" "no" "China" ">12y" "" "yes" "none" "-" "B10"
"00324590" "" "" "" "1" "" "03957" "" "" "F" "no" "China" ">22y" "" "yes" "none" "-" "B11"
"00324591" "" "" "" "1" "" "03957" "" "" "M" "no" "China" ">21y" "" "yes" "none" "-" "A6"
"00325421" "" "" "" "1" "" "00006" "{PMID:Zenteno 2020:31736247}" "" "" "" "Mexico" "" "0" "" "" "" "1175"
"00325457" "" "" "" "1" "" "00006" "{PMID:Zenteno 2020:31736247}" "" "" "" "Mexico" "" "0" "" "" "" "3286"
"00325470" "" "" "" "1" "" "00006" "{PMID:Zenteno 2020:31736247}" "" "" "" "Mexico" "" "0" "" "" "" "3457"
"00325475" "" "" "" "1" "" "00006" "{PMID:Zenteno 2020:31736247}" "" "" "" "Mexico" "" "0" "" "" "" "3522"
"00325479" "" "" "" "1" "" "00006" "{PMID:Zenteno 2020:31736247}" "" "" "" "Mexico" "" "0" "" "" "" "3529"
"00325485" "" "" "" "1" "" "00006" "{PMID:Zenteno 2020:31736247}" "family" "" "" "Mexico" "" "0" "" "" "" "3566"
"00325489" "" "" "" "1" "" "00006" "{PMID:Zenteno 2020:31736247}" "" "" "" "Mexico" "" "0" "" "" "" "3585"
"00325495" "" "" "" "1" "" "00006" "{PMID:Zenteno 2020:31736247}" "single patient" "" "" "Mexico" "" "0" "" "" "" "3632"
"00326695" "" "" "" "1" "" "00008" "{PMID:Mandal 2005:16123440}" "" "" "" "" "" "0" "" "" "" ""
"00326697" "" "" "" "1" "" "00008" "{PMID:Mandal 2005:16123440}" "" "" "" "" "" "0" "" "" "" ""
"00326699" "" "" "" "1" "" "00008" "{PMID:Mandal 2005:16123440}" "" "" "" "" "" "0" "" "" "" ""
"00326700" "" "" "" "1" "" "00008" "{PMID:Mandal 2005:16123440}" "" "" "" "" "" "0" "" "" "" ""
"00326701" "" "" "" "1" "" "00008" "{PMID:Mandal 2005:16123440}" "" "" "" "" "" "0" "" "" "" ""
"00327394" "" "" "" "1" "" "03980" "Doucette 2021, submitted" "proband of family M53 initially diagnosed with a cone-dystrophy" "M" "no" "Canada" "" "0" "Yes" "" "Western European descent (Irish)" "M53 II-1"
"00327912" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "B240012"
"00327914" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "B240019"
"00327918" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "B240026"
"00327951" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "B240094"
"00327960" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "B240250"
"00327972" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "Europe" "G000984"
"00328011" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "Africa" "G001049"
"00328022" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "Africa" "G001289"
"00328029" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "Europe" "G001330"
"00328035" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "Asia-South" "G001369"
"00328039" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "Europe" "G001403"
"00328047" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "Europe" "G001416"
"00328049" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "Europe" "G001419"
"00328054" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "Africa" "G001433"
"00328064" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "Asia-South" "G004709"
"00328065" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "Asia-South" "G004710"
"00328071" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "Europe" "G004717"
"00328079" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "Asia-South" "G004996"
"00328102" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "Europe" "G005205"
"00328108" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "Europe" "G005226"
"00328113" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "Europe" "G005234"
"00328122" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "Europe" "G005248"
"00328127" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "Europe" "G005494"
"00328134" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "Europe" "G005506"
"00328147" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "Europe" "G005993"
"00328151" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "Europe" "G006002"
"00328179" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "Europe" "G007675"
"00328180" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "Europe" "G007676"
"00328181" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "Africa" "G007677"
"00328183" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "Europe" "G007680"
"00328184" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "Europe" "G007681"
"00328185" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "Europe" "G007682"
"00328192" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "Europe" "G007697"
"00328193" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "Europe" "G007698"
"00328199" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "Asia-South" "G007710"
"00328200" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "Europe" "G007712"
"00328203" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "Europe" "G007715"
"00328204" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "Europe" "G007717"
"00328205" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "Europe" "G007718"
"00328207" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "Europe" "G007721"
"00328212" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "Europe" "G007729"
"00328213" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "Europe" "G007730"
"00328214" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "Europe" "G007731"
"00328215" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "Europe" "G007736"
"00328221" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "Europe" "G007747"
"00328222" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "Europe" "G007753"
"00328223" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "Europe" "G007754"
"00328224" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "Asia-South" "G007755"
"00328225" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "Europe" "G007756"
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"00334206" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "F" "" "(United States)" "" "0" "" "" "" "747"
"00334207" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "F" "" "(United States)" "" "0" "" "" "" "748"
"00334208" "" "" "" "2" "" "00000" "{PMID:Stone 2017:28559085}" "family, 2 affected" "F" "" "(United States)" "" "0" "" "" "" "749"
"00334209" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "M" "" "(United States)" "" "0" "" "" "" "750"
"00334210" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "F" "" "(United States)" "" "0" "" "" "" "751"
"00334211" "" "" "" "2" "" "00000" "{PMID:Stone 2017:28559085}" "family, 2 affected" "F" "" "(United States)" "" "0" "" "" "" "752"
"00334212" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "F" "" "(United States)" "" "0" "" "" "" "753"
"00334213" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "F" "" "(United States)" "" "0" "" "" "" "754"
"00334214" "" "" "" "2" "" "00000" "{PMID:Stone 2017:28559085}" "family, 2 affected" "F" "" "(United States)" "" "0" "" "" "" "755"
"00334215" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "M" "" "(United States)" "" "0" "" "" "" "757"
"00334216" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "M" "" "(United States)" "" "0" "" "" "" "758"
"00334217" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "F" "" "(United States)" "" "0" "" "" "" "759"
"00334218" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "M" "" "(United States)" "" "0" "" "" "" "760"
"00334219" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "M" "" "(United States)" "" "0" "" "" "" "761"
"00334220" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "M" "" "(United States)" "" "0" "" "" "" "762"
"00334221" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "F" "" "(United States)" "" "0" "" "" "" "763"
"00334222" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "F" "" "(United States)" "" "0" "" "" "" "765"
"00334223" "" "" "" "2" "" "00000" "{PMID:Stone 2017:28559085}" "family, 2 affected" "F" "" "(United States)" "" "0" "" "" "" "766"
"00334224" "" "" "" "2" "" "00000" "{PMID:Stone 2017:28559085}" "family, 2 affected" "M" "" "(United States)" "" "0" "" "" "" "767"
"00334225" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "F" "" "(United States)" "" "0" "" "" "" "768"
"00334226" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "F" "" "(United States)" "" "0" "" "" "" "769"
"00334227" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "M" "" "(United States)" "" "0" "" "" "" "770"
"00334228" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "M" "" "(United States)" "" "0" "" "" "" "771"
"00334229" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "M" "" "(United States)" "" "0" "" "" "" "772"
"00334230" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "F" "" "(United States)" "" "0" "" "" "" "773"
"00334231" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "F" "" "(United States)" "" "0" "" "" "" "775"
"00334232" "" "" "" "2" "" "00000" "{PMID:Stone 2017:28559085}" "family, 2 affected" "M" "" "(United States)" "" "0" "" "" "" "777"
"00334233" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "F" "" "(United States)" "" "0" "" "" "" "778"
"00334234" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "M" "" "(United States)" "" "0" "" "" "" "779"
"00334235" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "M" "" "(United States)" "" "0" "" "" "" "780"
"00334236" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "F" "" "(United States)" "" "0" "" "" "" "783"
"00334237" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "M" "" "(United States)" "" "0" "" "" "" "784"
"00334238" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "M" "" "(United States)" "" "0" "" "" "" "785"
"00334239" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "F" "" "(United States)" "" "0" "" "" "" "786"
"00334240" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "M" "" "(United States)" "" "0" "" "" "" "787"
"00334241" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "F" "" "(United States)" "" "0" "" "" "" "789"
"00334242" "" "" "" "4" "" "00000" "{PMID:Stone 2017:28559085}" "family, 4 affected" "F" "" "(United States)" "" "0" "" "" "" "790"
"00334243" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "F" "" "(United States)" "" "0" "" "" "" "791"
"00334244" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "M" "" "(United States)" "" "0" "" "" "" "792"
"00334245" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "M" "" "(United States)" "" "0" "" "" "" "793"
"00334246" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "M" "" "(United States)" "" "0" "" "" "" "794"
"00334247" "" "" "" "2" "" "00000" "{PMID:Stone 2017:28559085}" "family, 2 affected" "F" "" "(United States)" "" "0" "" "" "" "795"
"00334248" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "F" "" "(United States)" "" "0" "" "" "" "796"
"00334249" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "M" "" "(United States)" "" "0" "" "" "" "797"
"00334250" "" "" "" "6" "" "00000" "{PMID:Stone 2017:28559085}" "family, 6 affected" "M" "" "(United States)" "" "0" "" "" "" "798"
"00334251" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "F" "" "(United States)" "" "0" "" "" "" "799"
"00334252" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "M" "" "(United States)" "" "0" "" "" "" "800"
"00334253" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "M" "" "(United States)" "" "0" "" "" "" "801"
"00334254" "" "" "" "2" "" "00000" "{PMID:Stone 2017:28559085}" "family, 2 affected" "M" "" "(United States)" "" "0" "" "" "" "802"
"00334255" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "M" "" "(United States)" "" "0" "" "" "" "803"
"00334256" "" "" "" "2" "" "00000" "{PMID:Stone 2017:28559085}" "family, 2 affected" "M" "" "(United States)" "" "0" "" "" "" "804"
"00334257" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "M" "" "(United States)" "" "0" "" "" "" "805"
"00334258" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "M" "" "(United States)" "" "0" "" "" "" "806"
"00334259" "" "" "" "2" "" "00000" "{PMID:Stone 2017:28559085}" "family, 2 affected" "M" "" "(United States)" "" "0" "" "" "" "807"
"00334269" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "F" "" "(United States)" "" "0" "" "" "" "872"
"00334270" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "M" "" "(United States)" "" "0" "" "" "" "873"
"00334271" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "F" "" "(United States)" "" "0" "" "" "" "874"
"00334272" "" "" "" "2" "" "00000" "{PMID:Stone 2017:28559085}" "family, 2 affected" "F" "" "(United States)" "" "0" "" "" "" "875"
"00334328" "" "" "" "1" "" "03971" "Mena et al., 2020 submitted." "" "F" "" "Argentina" "" "" "" "" "" ""
"00334329" "" "" "" "1" "" "03971" "Mena et al., 2020 submitted" "" "M" "no" "Argentina" "" "" "" "" "" ""
"00334330" "" "" "" "1" "" "03971" "Mena et al., 2020 submitted" "" "M" "no" "Argentina" "" "" "" "" "" ""
"00334331" "" "" "" "1" "" "03971" "Mena et al., 2020 submitted" "" "F" "no" "Argentina" "" "" "" "" "" ""
"00334332" "" "" "" "1" "" "03971" "Mena et al., 2020 submitted" "" "M" "no" "Argentina" "" "" "" "" "" ""
"00334333" "" "" "" "1" "" "03971" "Mena et al., 2020 submitted." "" "F" "no" "Argentina" "" "" "" "" "" ""
"00334334" "" "" "" "1" "" "03971" "Mena et al., 2020 submitted." "" "M" "" "Argentina" "" "" "" "" "" ""
"00334335" "" "" "" "1" "" "03971" "Mena et al., 2020 submitted." "" "F" "?" "Argentina" "" "" "" "" "" ""
"00334336" "" "" "" "1" "" "03971" "Mena et al., 2020 submitted." "" "F" "no" "Argentina" "" "" "" "" "" ""
"00334337" "" "" "" "1" "" "03971" "Mena et al., 2020 submitted." "" "F" "" "Argentina" "" "" "" "" "" ""
"00334338" "" "" "" "1" "" "03971" "Mena et al., 2020 submitted." "" "M" "no" "Argentina" "" "" "" "" "" ""
"00334339" "" "" "" "1" "" "03971" "Mena et al., 2020 submitted." "" "F" "" "Argentina" "" "" "" "" "" ""
"00334340" "" "" "" "1" "" "03971" "Mena et al., 2020 submitted." "" "M" "no" "Argentina" "" "" "" "" "" ""
"00334341" "" "" "" "2" "" "03971" "Mena et al., 2020 submitted." "" "F" "no" "Argentina" "" "" "" "" "" ""
"00334342" "" "" "00334341" "1" "" "03971" "Mena et al., 2020 submitted." "" "F" "no" "Argentina" "" "" "" "" "" ""
"00334372" "" "" "" "1" "" "03971" "Mena et al., 2020 submitted." "" "F" "" "Argentina" "" "" "" "" "" ""
"00334377" "" "" "" "1" "" "03971" "Mena et al., 2020 submitted." "" "F" "no" "Argentina" "" "" "" "" "" ""
"00334379" "" "" "" "1" "" "03971" "Mena et al., 2020 submitted." "" "M" "no" "Argentina" "" "" "" "" "" ""
"00334382" "" "" "" "1" "" "03971" "Mena et al., 2020 submitted." "" "F" "no" "Argentina" "" "" "" "" "" ""
"00334383" "" "" "" "1" "" "03971" "Mena et al., 2020 submitted." "" "F" "no" "Argentina" "" "" "" "" "" ""
"00334385" "" "" "" "1" "" "03971" "Mena et al., 2020 submitted." "" "F" "no" "Argentina" "" "" "" "" "" ""
"00334386" "" "" "" "1" "" "03971" "Mena et al., 2020 submitted." "" "F" "no" "Argentina" "" "" "" "" "" ""
"00334388" "" "" "" "1" "" "03971" "Mena et al., 2020 submitted." "" "F" "no" "Argentina" "" "" "" "" "" ""
"00334389" "" "" "" "1" "" "03971" "Mena et al., 2020 submitted." "" "F" "" "Argentina" "" "" "" "" "" ""
"00334391" "" "" "" "1" "" "03971" "Mena et al., 2020 submitted." "" "F" "no" "Argentina" "" "" "" "" "" ""
"00334392" "" "" "" "1" "" "03971" "Mena et al., 2020 submitted." "" "F" "no" "Argentina" "" "" "" "" "" ""
"00334407" "" "" "" "1" "" "00000" "{PMID:Huang 2017:28512305}" "patient" "" "" "China" "" "0" "" "" "" "RP-047"
"00334408" "" "" "" "1" "" "00000" "{PMID:Huang 2017:28512305}" "patient" "" "" "China" "" "0" "" "" "" "RP-070"
"00334409" "" "" "" "1" "" "00000" "{PMID:Huang 2017:28512305}" "patient" "" "" "China" "" "0" "" "" "" "RP-134"
"00334463" "" "" "" "1" "" "00000" "{PMID:Habibi 2016:27874104}" "family" "" "" "Tunisia" "" "0" "" "" "" "F3"
"00334501" "" "" "" "1" "" "03971" "Mena et al., 2020 submitted." "" "F" "no" "Argentina" "" "" "" "" "" ""
"00334502" "" "" "" "1" "" "03971" "Mena et al., 2020 submitted." "" "F" "no" "Argentina" "" "" "" "" "" ""
"00334503" "" "" "" "1" "" "03971" "Mena et al., 2020 submitted." "" "M" "no" "Argentina" "" "" "" "" "" ""
"00334504" "" "" "" "1" "" "03971" "Mena et al., 2020 submitted." "" "F" "no" "Argentina" "" "" "" "" "" ""
"00334505" "" "" "" "1" "" "03971" "Mena et al., 2020 submitted." "" "F" "no" "Argentina" "" "" "" "" "" ""
"00334512" "" "" "" "1" "" "03971" "Mena et al., 2020 submitted." "" "F" "no" "Argentina" "" "" "" "" "" ""
"00334514" "" "" "" "1" "" "03971" "Mena et al., 2020 submitted." "" "M" "no" "Argentina" "" "" "" "" "" ""
"00334515" "" "" "" "1" "" "03971" "Mena et al., 2020 submitted." "" "F" "no" "Argentina" "" "" "" "" "" ""
"00334516" "" "" "" "1" "" "03971" "Mena et al., 2020 submitted." "" "F" "no" "Argentina" "" "" "" "" "" ""
"00334517" "" "" "" "1" "" "03971" "Mena et al., 2020 submitted." "" "F" "no" "Argentina" "" "" "" "" "" ""
"00334518" "" "" "" "1" "" "03971" "Mena et al., 2020 submitted." "" "M" "no" "Argentina" "" "" "" "" "" ""
"00334519" "" "" "" "1" "" "03971" "Mena et al., 2020 submitted." "" "M" "no" "Argentina" "" "" "" "" "" ""
"00334531" "" "" "" "1" "" "03971" "Mena et al., 2020 submitted." "" "M" "?" "Argentina" "" "" "" "" "" ""
"00334532" "" "" "" "1" "" "03971" "Mena et al., 2020 submitted." "" "M" "no" "Argentina" "" "" "" "" "" ""
"00334534" "" "" "" "1" "" "03971" "Mena et al., 2020 submitted." "" "M" "no" "Argentina" "" "" "" "" "" ""
"00334572" "" "" "" "1" "" "00000" "{PMID:Vincent 2017:28488341}" "patient, no family history" "M" "" "Samoa" "" "0" "" "" "" "206"
"00334881" "" "" "" "1" "" "03971" "Mena et al., 2020 submitted" "" "M" "no" "Argentina" "" "" "" "" "" ""
"00334882" "" "" "" "1" "" "03971" "Mena et al., 2020 submitted" "" "F" "" "Argentina" "" "" "" "" "" ""
"00334945" "" "" "" "1" "" "03971" "Mena et al., 2020 submitted" "" "M" "no" "Argentina" "" "" "" "" "" ""
"00334947" "" "" "" "1" "" "03971" "Mena et al., 2020 submitted" "" "F" "?" "Argentina" "" "" "" "" "" ""
"00334949" "" "" "" "1" "" "03971" "Mena et al., 2020 submitted" "" "M" "no" "Argentina" "" "" "" "" "" ""
"00334951" "" "" "" "1" "" "03971" "Mena et al., 2020 submitted" "" "F" "" "Argentina" "" "" "" "" "" ""
"00334953" "" "" "" "1" "" "03971" "Mena et al., 2020 submitted" "" "F" "no" "Argentina" "" "" "" "" "" ""
"00334956" "" "" "" "1" "" "03971" "Mena et al., 2020 submitted" "" "F" "no" "Argentina" "" "" "" "" "" ""
"00334958" "" "" "" "1" "" "03971" "Mena et al., 2020 submitted" "" "F" "no" "Argentina" "" "" "" "" "" ""
"00334959" "" "" "" "1" "" "03971" "Mena et al., 2020 submitted" "" "F" "no" "Argentina" "" "" "" "" "" ""
"00334960" "" "" "" "1" "" "03971" "Mena et al., 2020 submitted" "" "M" "no" "Argentina" "" "" "" "" "" ""
"00334961" "" "" "" "1" "" "03971" "Mena et al., 2020 submitted" "" "M" "no" "Argentina" "" "" "" "" "" ""
"00334975" "" "" "" "2" "" "03971" "Mena et al., 2020 submitted" "" "F" "no" "Uruguay" "" "" "" "" "" ""
"00334977" "" "" "00334975" "1" "" "03971" "Mena et al., 2020 submitted" "" "M" "no" "Uruguay" "" "" "" "" "" ""
"00334979" "" "" "" "2" "" "03971" "Mena et al., 2020 submitted" "" "F" "no" "Argentina" "" "" "" "" "" ""
"00334985" "" "" "00334979" "1" "" "03971" "Mena et al., 2020 submitted" "" "F" "no" "Argentina" "" "" "" "" "" ""
"00335071" "" "" "" "1" "" "00000" "{PMID:Haer-Wigman 2017:28224992}" "patient" "" "no" "Netherlands" "" "0" "" "" "" "7762"
"00335072" "" "" "" "1" "" "00000" "{PMID:Haer-Wigman 2017:28224992}" "patient" "" "yes" "Netherlands" "" "0" "" "" "" "3338"
"00335073" "" "" "" "1" "" "00000" "{PMID:Haer-Wigman 2017:28224992}" "patient" "" "no" "Netherlands" "" "0" "" "" "" "4459"
"00335074" "" "" "" "1" "" "00000" "{PMID:Haer-Wigman 2017:28224992}" "patient" "" "no" "Netherlands" "" "0" "" "" "" "1426"
"00335075" "" "" "" "1" "" "00000" "{PMID:Haer-Wigman 2017:28224992}" "family" "" "no" "Netherlands" "" "0" "" "" "" "4182"
"00335076" "" "" "" "1" "" "00000" "{PMID:Haer-Wigman 2017:28224992}" "patient" "" "no" "Netherlands" "" "0" "" "" "" "3850"
"00335077" "" "" "" "1" "" "00000" "{PMID:Haer-Wigman 2017:28224992}" "family" "" "no" "Netherlands" "" "0" "" "" "" "889"
"00335078" "" "" "" "1" "" "00000" "{PMID:Haer-Wigman 2017:28224992}" "family" "" "yes" "Netherlands" "" "0" "" "" "" "3362"
"00335079" "" "" "" "1" "" "00000" "{PMID:Haer-Wigman 2017:28224992}" "family" "" "no" "Netherlands" "" "0" "" "" "" "8190"
"00335242" "" "" "" "1" "" "00000" "{PMID:Riera 2017:28181551}" "patient" "" "" "Spain" "" "0" "" "" "" "Fi15/32"
"00335246" "" "" "" "1" "" "00000" "{PMID:Riera 2017:28181551}" "patient" "" "" "Spain" "" "0" "" "" "" "Fi15/34"
"00335247" "" "" "" "2" "" "00000" "{PMID:Riera 2017:28181551}" "family, several affected" "" "" "Spain" "" "0" "" "" "" "Fi15/23"
"00335248" "" "" "" "2" "" "00000" "{PMID:Riera 2017:28181551}" "family, several affected" "" "" "Spain" "" "0" "" "" "" "Fi15/33"
"00335250" "" "" "" "2" "" "00000" "{PMID:Riera 2017:28181551}" "family, several affected" "" "" "Spain" "" "0" "" "" "" "Fi15/31"
"00335257" "" "" "" "1" "" "02485" "{PMID:Bravo-Gil 2017:28157192}" "family" "" "" "Spain" "" "0" "" "" "" "Pat4"
"00335258" "" "" "" "1" "" "02485" "{PMID:Bravo-Gil 2017:28157192}" "patient" "" "" "Spain" "" "0" "" "" "" "Pat84"
"00335326" "" "" "" "1" "" "02485" "{PMID:Bravo-Gil 2017:28157192}" "" "" "" "Spain" "" "0" "" "" "" "Pat113"
"00335327" "" "" "" "1" "" "02485" "{PMID:Bravo-Gil 2017:28157192}" "" "" "" "Spain" "" "0" "" "" "" "Pat89"
"00335328" "" "" "" "1" "" "02485" "{PMID:Bravo-Gil 2017:28157192}" "" "" "" "Spain" "" "0" "" "" "" "Pat90"
"00335329" "" "" "" "1" "" "02485" "{PMID:Bravo-Gil 2017:28157192}" "" "" "" "Spain" "" "0" "" "" "" "Pat98"
"00335330" "" "" "" "1" "" "02485" "{PMID:Bravo-Gil 2017:28157192}" "" "" "" "Spain" "" "0" "" "" "" "Pat64"
"00335402" "" "" "" "1" "" "00000" "{PMID:Huang 2018:29641573}" "" "" "" "" "" "0" "" "" "" "RP049"
"00335422" "" "" "" "1" "" "00000" "{PMID:Huang 2018:29641573}" "" "" "" "" "" "0" "" "" "" "RP028"
"00335426" "" "" "" "1" "" "00000" "{PMID:Huang 2018:29641573}" "" "" "" "" "" "0" "" "" "" "RP048"
"00335433" "" "" "" "1" "" "00000" "{PMID:Huang 2018:29641573}" "" "" "" "" "" "0" "" "" "" "RP074"
"00335436" "" "" "" "1" "" "00000" "{PMID:Huang 2018:29641573}" "" "" "" "" "" "0" "" "" "" "RP077"
"00335442" "" "" "" "1" "" "00000" "{PMID:Huang 2018:29641573}" "" "" "" "" "" "0" "" "" "" "RP100"
"00335448" "" "" "" "2" "" "00006" "{PMID:Todorova 2017:28147405}" "2-generation family, affected father/daughter" "F;M" "" "Switzerland" "" "0" "" "" "" "Fam3"
"00335451" "" "" "" "3" "" "00006" "{PMID:Todorova 2017:28147405}" "family, 3 affected" "" "" "Switzerland" "" "0" "" "" "" "Fam7"
"00335453" "" "" "" "1" "" "00000" "{PMID:Biswas 2017:28130426}" "" "" "" "Pakistan" "" "0" "" "" "" "RF.RA.0812"
"00335454" "" "" "" "1" "" "00000" "{PMID:Biswas 2017:28130426}" "" "" "" "United States" "" "0" "" "" "white" "RF.H.0909"
"00335462" "" "" "" "1" "" "00000" "{PMID:Bernardis 2016:28127548}" " " "" "" "Italy" "" "0" "" "" "" "IRD027"
"00335463" "" "" "" "1" "" "00000" "{PMID:Bernardis 2016:28127548}" "familial case" "" "" "Italy" "" "0" "" "" "" "IRD036"
"00335464" "" "" "" "1" "" "00000" "{PMID:Bernardis 2016:28127548}" "" "" "" "Italy" "" "0" "" "" "" "IRD037"
"00335465" "" "" "" "1" "" "00000" "{PMID:Bernardis 2016:28127548}" "familial case" "" "" "Italy" "" "0" "" "" "" "IRD042"
"00335466" "" "" "" "1" "" "00000" "{PMID:Bernardis 2016:28127548}" "" "" "" "Italy" "" "0" "" "" "" "IRD043"
"00335467" "" "" "" "1" "" "00000" "{PMID:Bernardis 2016:28127548}" " " "" "" "Italy" "" "0" "" "" "" "IRD050"
"00335468" "" "" "" "1" "" "00000" "{PMID:Bernardis 2016:28127548}" " " "" "" "Italy" "" "0" "" "" "" "IRD054"
"00335469" "" "" "" "1" "" "00000" "{PMID:Bernardis 2016:28127548}" " " "" "" "Italy" "" "0" "" "" "" "IRD055"
"00335470" "" "" "" "1" "" "00000" "{PMID:Bernardis 2016:28127548}" " " "" "" "Italy" "" "0" "" "" "" "IRD061"
"00335471" "" "" "" "1" "" "00000" "{PMID:Bernardis 2016:28127548}" " " "" "" "Italy" "" "0" "" "" "" "IRD062"
"00335472" "" "" "" "1" "" "00000" "{PMID:Bernardis 2016:28127548}" " " "" "" "Italy" "" "0" "" "" "" "IRD073"
"00335473" "" "" "" "1" "" "00000" "{PMID:Bernardis 2016:28127548}" " " "" "" "Italy" "" "0" "" "" "" "IRD077"
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"00361827" "" "" "" "1" "" "02404" "{PMID:Bahena 2021:34148116}" "" "F" "yes" "Iran" "" "0" "" "" "" "Pat52"
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"00362205" "" "" "" "1" "" "04043" "{PMID:Fadaie 2021:34795310}" "" "" "" "Ireland" "" "0" "" "" "" "Pat1"
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"00364028" "" "" "" "1" "" "01695" "{PMID:Birtel 2018:29555955}" "" "F" "no" "Germany" "" "0" "" "" "" "13"
"00364029" "" "" "" "1" "" "01695" "{PMID:Birtel 2018:29555955}" "" "F" "no" "Germany" "" "0" "" "" "" "14"
"00364030" "" "" "" "1" "" "01695" "{PMID:Birtel 2018:29555955}" "" "F" "no" "Germany" "" "0" "" "" "" "15"
"00364031" "" "" "" "1" "" "01695" "{PMID:Birtel 2018:29555955}" "" "F" "?" "Germany" "" "0" "" "" "" "16"
"00364032" "" "" "" "1" "" "01695" "{PMID:Birtel 2018:29555955}" "" "M" "no" "Germany" "" "0" "" "" "" "17"
"00364033" "" "" "" "1" "" "01695" "{PMID:Birtel 2018:29555955}" "" "F" "no" "Germany" "" "0" "" "" "" "18"
"00364034" "" "" "" "1" "" "01695" "{PMID:Birtel 2018:29555955}" "" "M" "no" "Germany" "" "0" "" "" "" "19"
"00364035" "" "" "" "1" "" "01695" "{PMID:Birtel 2018:29555955}" "" "F" "no" "Germany" "" "0" "" "" "" "20"
"00364036" "" "" "" "1" "" "01695" "{PMID:Birtel 2018:29555955}" "" "M" "?" "Germany" "" "0" "" "" "" "21"
"00364037" "" "" "" "1" "" "01695" "{PMID:Birtel 2018:29555955}" "" "F" "?" "Germany" "" "0" "" "" "" "22"
"00364038" "" "" "" "1" "" "01695" "{PMID:Birtel 2018:29555955}" "" "M" "no" "Germany" "" "0" "" "" "" "23"
"00364039" "" "" "" "1" "" "01695" "{PMID:Birtel 2018:29555955}" "" "F" "no" "Germany" "" "0" "" "" "" "24"
"00364041" "" "" "" "1" "" "01695" "{PMID:Birtel 2018:29555955}" "" "F" "no" "Germany" "" "0" "" "" "" "26"
"00364042" "" "" "" "1" "" "01695" "{PMID:Birtel 2018:29555955}" "" "F" "no" "Germany" "" "0" "" "" "" "27"
"00364043" "" "" "" "1" "" "01695" "{PMID:Birtel 2018:29555955}" "" "F" "?" "Germany" "" "0" "" "" "" "28"
"00364044" "" "" "" "1" "" "01695" "{PMID:Birtel 2018:29555955}" "" "F" "no" "Germany" "" "0" "" "" "" "29"
"00364045" "" "" "" "1" "" "01695" "{PMID:Birtel 2018:29555955}" "" "F" "no" "Germany" "" "0" "" "" "" "30"
"00364046" "" "" "" "1" "" "01695" "{PMID:Birtel 2018:29555955}" "" "F" "no" "Germany" "" "0" "" "" "" "31"
"00364047" "" "" "" "1" "" "01695" "{PMID:Birtel 2018:29555955}" "" "F" "no" "Germany" "" "0" "" "" "" "32"
"00364048" "" "" "" "1" "" "01695" "{PMID:Birtel 2018:29555955}" "" "F" "no" "Germany" "" "0" "" "" "" "33"
"00364049" "" "" "" "1" "" "01695" "{PMID:Birtel 2018:29555955}" "" "M" "no" "Germany" "" "0" "" "" "" "34"
"00364050" "" "" "" "1" "" "01695" "{PMID:Birtel 2018:29555955}" "" "F" "no" "Germany" "" "0" "" "" "" "35"
"00364051" "" "" "" "1" "" "01695" "{PMID:Birtel 2018:29555955}{PMID:Müller 2020:31917732}" "" "F" "no" "Germany" "" "0" "" "" "" "36; 12"
"00364052" "" "" "" "1" "" "01695" "{PMID:Birtel 2018:29555955}" "" "F" "no" "Germany" "" "0" "" "" "" "37"
"00364053" "" "" "" "1" "" "01695" "{PMID:Birtel 2018:29555955}" "" "M" "no" "Germany" "" "0" "" "" "" "38"
"00364054" "" "" "" "1" "" "01695" "{PMID:Birtel 2018:29555955}" "" "F" "?" "Germany" "" "0" "" "" "" "39"
"00364055" "" "" "" "1" "" "01695" "{PMID:Birtel 2018:29555955}" "" "M" "no" "Germany" "" "0" "" "" "" "40"
"00364056" "" "" "" "1" "" "01695" "{PMID:Birtel 2018:29555955}" "" "F" "no" "Germany" "" "0" "" "" "" "41"
"00364057" "" "" "" "1" "" "01695" "{PMID:Birtel 2018:29555955}" "" "F" "?" "Germany" "" "0" "" "" "" "42"
"00364058" "" "" "" "1" "" "01695" "{PMID:Birtel 2018:29555955}" "" "M" "no" "Germany" "" "0" "" "" "" "43"
"00364059" "" "" "" "1" "" "01695" "{PMID:Birtel 2018:29555955}" "" "M" "?" "Germany" "" "0" "" "" "" "44"
"00364060" "" "" "" "1" "" "01695" "{PMID:Birtel 2018:29555955}" "" "F" "?" "Germany" "" "0" "" "" "" "45"
"00364061" "" "" "" "1" "" "01695" "{PMID:Birtel 2018:29555955}" "" "F" "no" "Germany" "" "0" "" "" "" "46"
"00364062" "" "" "" "1" "" "01695" "{PMID:Birtel 2018:29555955}" "" "M" "no" "Germany" "" "0" "" "" "" "47"
"00364063" "" "" "" "1" "" "01695" "{PMID:Birtel 2018:29555955}{PMID:Müller 2020:32891696}{PMID:Müller 2020:32751377}" "" "M" "no" "Germany" "" "0" "" "" "white" "48; 22; 54"
"00364064" "" "" "" "1" "" "01695" "{PMID:Birtel 2018:29555955}" "" "M" "?" "Germany" "" "0" "" "" "" "49"
"00364066" "" "" "" "1" "" "01695" "{PMID:Birtel 2018:29555955}" "" "F" "no" "Germany" "" "0" "" "" "" "51"
"00364067" "" "" "" "1" "" "01695" "{PMID:Birtel 2018:29555955}" "" "F" "no" "Germany" "" "0" "" "" "" "52"
"00364068" "" "" "" "1" "" "01695" "{PMID:Birtel 2018:29555955}" "" "M" "no" "Germany" "" "0" "" "" "" "53"
"00364069" "" "" "" "1" "" "01695" "{PMID:Birtel 2018:29555955}" "pseudodominant inheritance" "F" "?" "Germany" "" "0" "" "" "" "54"
"00364070" "" "" "" "1" "" "01695" "{PMID:Birtel 2018:29555955}" "" "F" "no" "Germany" "" "0" "" "" "" "55"
"00364071" "" "" "" "1" "" "01695" "{PMID:Birtel 2018:29555955}" "" "F" "no" "Germany" "" "0" "" "" "" "56"
"00364072" "" "" "" "1" "" "01695" "{PMID:Birtel 2018:29555955}" "" "M" "?" "Germany" "" "0" "" "" "" "57"
"00364073" "" "" "" "1" "" "01695" "{PMID:Birtel 2018:29555955}" "" "F" "no" "Germany" "" "0" "" "" "" "58"
"00364074" "" "" "" "1" "" "01695" "{PMID:Birtel 2018:29555955}" "" "F" "no" "Germany" "" "0" "" "" "" "59"
"00364075" "" "" "" "1" "" "01695" "{PMID:Birtel 2018:29555955}" "" "F" "?" "Germany" "" "0" "" "" "" "60"
"00364076" "" "" "" "1" "" "01695" "{PMID:Birtel 2018:29555955}" "" "F" "no" "Germany" "" "0" "" "" "" "61"
"00364077" "" "" "" "1" "" "01695" "{PMID:Birtel 2018:29555955}" "" "F" "no" "Germany" "" "0" "" "" "" "62"
"00364078" "" "" "" "1" "" "01695" "{PMID:Birtel 2018:29555955}" "pseudodominant inheritance" "M" "?" "Germany" "" "0" "" "" "" "63"
"00364079" "" "" "" "1" "" "01695" "{PMID:Birtel 2018:29555955}" "" "M" "?" "Germany" "" "0" "" "" "" "64"
"00364080" "" "" "" "1" "" "01695" "{PMID:Birtel 2018:29555955}" "" "M" "no" "Germany" "" "0" "" "" "" "65"
"00364081" "" "" "" "1" "" "01695" "{PMID:Birtel 2018:29555955}" "" "M" "no" "Germany" "" "0" "" "" "" "66"
"00364082" "" "" "" "1" "" "01695" "{PMID:Birtel 2018:29555955}" "" "M" "no" "Germany" "" "0" "" "" "" "67"
"00364083" "" "" "" "1" "" "01695" "{PMID:Birtel 2018:29555955}" "" "M" "no" "Germany" "" "0" "" "" "" "68"
"00364084" "" "" "" "1" "" "01695" "{PMID:Birtel 2018:29555955}" "" "M" "no" "Germany" "" "0" "" "" "" "69"
"00364085" "" "" "" "1" "" "01695" "{PMID:Birtel 2018:29555955}" "" "F" "no" "Germany" "" "0" "" "" "" "70"
"00364086" "" "" "" "1" "" "01695" "{PMID:Birtel 2018:29555955}" "additionally, in exon 7 of GUCY2D the variant c.1618C>T, p.Arg540Cys was found (Perrault 2000 )" "F" "no" "Germany" "" "0" "" "" "" "71"
"00364087" "" "" "" "1" "" "01695" "{PMID:Birtel 2018:29555955}" "" "F" "no" "Germany" "" "0" "" "" "" "72"
"00364088" "" "" "" "1" "" "01695" "{PMID:Birtel 2018:29555955}" "" "M" "no" "Germany" "" "0" "" "" "" "73"
"00364089" "" "" "" "1" "" "01695" "{PMID:Birtel 2018:29555955}" "" "M" "no" "Germany" "" "0" "" "" "" "74"
"00364090" "" "" "" "1" "" "01695" "{PMID:Birtel 2018:29555955}" "" "M" "no" "Germany" "" "0" "" "" "" "75"
"00364091" "" "" "" "1" "" "01695" "{PMID:Birtel 2018:29555955}" "" "M" "no" "Germany" "" "0" "" "" "" "76"
"00364092" "" "" "" "1" "" "01695" "{PMID:Birtel 2018:29555955}" "" "F" "no" "Germany" "" "0" "" "" "" "77"
"00364093" "" "" "" "1" "" "01695" "{PMID:Birtel 2018:29555955}" "" "F" "no" "Germany" "" "0" "" "" "" "78"
"00364094" "" "" "" "1" "" "01695" "{PMID:Birtel 2018:29555955}" "" "F" "no" "Germany" "" "0" "" "" "" "79"
"00364095" "" "" "" "1" "" "01695" "{PMID:Birtel 2018:29555955}" "" "M" "no" "Germany" "" "0" "" "" "" "80"
"00364096" "" "" "" "1" "" "01695" "{PMID:Birtel 2018:29555955}" "" "M" "no" "Germany" "" "0" "" "" "" "81"
"00364097" "" "" "" "1" "" "01695" "{PMID:Birtel 2018:29555955}" "" "M" "no" "Germany" "" "0" "" "" "" "82"
"00364098" "" "" "" "1" "" "01695" "{PMID:Birtel 2018:29555955}" "pseudodominant inheritance" "F" "?" "Germany" "" "0" "" "" "" "83"
"00364099" "" "" "" "1" "" "01695" "{PMID:Birtel 2018:29555955}" "" "F" "?" "Germany" "" "0" "" "" "" "84"
"00364100" "" "" "" "1" "" "01695" "{PMID:Birtel 2018:29555955}" "" "F" "no" "Germany" "" "0" "" "" "" "85"
"00364101" "" "" "" "1" "" "01695" "{PMID:Birtel 2018:29555955}" "" "M" "no" "Germany" "" "0" "" "" "" "86"
"00364102" "" "" "" "1" "" "01695" "{PMID:Birtel 2018:29555955}" "" "F" "?" "Germany" "" "0" "" "" "" "87"
"00364103" "" "" "" "1" "" "01695" "{PMID:Birtel 2018:29555955}" "" "M" "no" "Germany" "" "0" "" "" "" "88"
"00364104" "" "" "" "1" "" "01695" "{PMID:Birtel 2018:29555955}" "" "F" "?" "Germany" "" "0" "" "" "" "89"
"00364105" "" "" "" "1" "" "01695" "{PMID:Birtel 2018:29555955}" "" "F" "?" "Germany" "" "0" "" "" "" "90"
"00364106" "" "" "" "1" "" "01695" "{PMID:Birtel 2018:29555955}" "" "M" "no" "Germany" "" "0" "" "" "" "91"
"00364107" "" "" "" "1" "" "01695" "{PMID:Birtel 2018:29555955}" "" "F" "no" "Germany" "" "0" "" "" "" "92"
"00364108" "" "" "" "1" "" "01695" "{PMID:Birtel 2018:29555955}" "" "M" "no" "Germany" "" "0" "" "" "" "93"
"00364109" "" "" "" "1" "" "01695" "{PMID:Birtel 2018:29555955}" "" "M" "no" "Germany" "" "0" "" "" "" "94"
"00364110" "" "" "" "1" "" "01695" "{PMID:Sodi 2016:26743751}" "" "M" "?" "Italy" "" "0" "" "" "" "1"
"00364111" "" "" "" "1" "" "01695" "{PMID:Sodi 2016:26743751}" "" "F" "?" "Italy" "" "0" "" "" "" "2"
"00364112" "" "" "" "1" "" "01695" "{PMID:Sodi 2016:26743751}" "" "F" "?" "Italy" "" "0" "" "" "" "3"
"00364113" "" "" "" "1" "" "01695" "{PMID:Sodi 2016:26743751}" "" "F" "?" "Italy" "" "0" "" "" "" "4"
"00364114" "" "" "" "1" "" "01695" "{PMID:Sodi 2016:26743751}" "" "F" "?" "Italy" "" "0" "" "" "" "5"
"00364115" "" "" "" "1" "" "01695" "{PMID:Sodi 2016:26743751}" "" "F" "?" "Italy" "" "0" "" "" "" "6"
"00364116" "" "" "" "1" "" "01695" "{PMID:Sodi 2016:26743751}" "" "F" "?" "Italy" "" "0" "" "" "" "7"
"00364117" "" "" "" "1" "" "01695" "{PMID:Sodi 2016:26743751}" "" "M" "?" "Italy" "" "0" "" "" "" "8"
"00364118" "" "" "" "1" "" "01695" "{PMID:Sodi 2016:26743751}" "" "F" "?" "Italy" "" "0" "" "" "" "9"
"00364119" "" "" "" "1" "" "01695" "{PMID:Sodi 2016:26743751}" "" "F" "?" "Italy" "" "0" "" "" "" "10"
"00364120" "" "" "" "1" "" "01695" "{PMID:Sodi 2016:26743751}" "" "M" "?" "Italy" "" "0" "" "" "" "11"
"00364121" "" "" "" "1" "" "01695" "{PMID:Sodi 2016:26743751}" "" "F" "?" "Italy" "" "0" "" "" "" "12"
"00364122" "" "" "" "1" "" "01695" "{PMID:Sodi 2016:26743751}" "" "F" "?" "Italy" "" "0" "" "" "" "13"
"00364123" "" "" "" "1" "" "01695" "{PMID:Sodi 2016:26743751}" "" "F" "?" "Italy" "" "0" "" "" "" "14"
"00364124" "" "" "" "1" "" "01695" "{PMID:Sodi 2016:26743751}" "" "F" "?" "Italy" "" "0" "" "" "" "15"
"00364125" "" "" "" "1" "" "01695" "{PMID:Sodi 2016:26743751}" "" "F" "?" "Italy" "" "0" "" "" "" "16"
"00364126" "" "" "" "1" "" "01695" "{PMID:Sodi 2016:26743751}" "" "M" "?" "Italy" "" "0" "" "" "" "17"
"00364127" "" "" "" "1" "" "01695" "{PMID:Sodi 2016:26743751}" "" "F" "?" "Italy" "" "0" "" "" "" "18"
"00364128" "" "" "" "1" "" "01695" "{PMID:Sodi 2016:26743751}" "" "M" "?" "Italy" "" "0" "" "" "" "19"
"00364129" "" "" "" "1" "" "01695" "{PMID:Sodi 2016:26743751}" "" "F" "?" "Italy" "" "0" "" "" "" "20"
"00364130" "" "" "" "1" "" "01695" "{PMID:Sodi 2016:26743751}" "c.4253+6C>T was also identified in this patient" "M" "?" "Italy" "" "0" "" "" "" "21"
"00364131" "" "" "" "1" "" "01695" "{PMID:Sodi 2016:26743751}" "likely twins with patient 23" "M" "?" "Italy" "" "0" "" "" "" "22"
"00364132" "" "" "" "1" "" "01695" "{PMID:Sodi 2016:26743751}" "likely twins with patient 22" "M" "?" "Italy" "" "0" "" "" "" "23"
"00364133" "" "" "" "1" "" "01695" "{PMID:Sodi 2016:26743751}" "" "F" "?" "Italy" "" "0" "" "" "" "24"
"00364134" "" "" "" "1" "" "01695" "{PMID:Sodi 2016:26743751}" "" "M" "?" "Italy" "" "0" "" "" "" "25"
"00364135" "" "" "" "1" "" "01695" "{PMID:Sodi 2016:26743751}" "" "M" "?" "Italy" "" "0" "" "" "" "26"
"00364136" "" "" "" "1" "" "01695" "{PMID:Sodi 2016:26743751}" "" "F" "?" "Italy" "" "0" "" "" "" "27"
"00364137" "" "" "" "1" "" "01695" "{PMID:Sodi 2016:26743751}" "likely a sibling from patient 29" "F" "?" "Italy" "" "0" "" "" "" "28"
"00364138" "" "" "" "1" "" "01695" "{PMID:Sodi 2016:26743751}" "likely a sibling from patient 28" "M" "?" "Italy" "" "0" "" "" "" "29"
"00364139" "" "" "" "1" "" "01695" "{PMID:Sodi 2016:26743751}" "" "F" "?" "Italy" "" "0" "" "" "" "30"
"00364140" "" "" "" "1" "" "01695" "{PMID:Sodi 2016:26743751}" "" "F" "?" "Italy" "" "0" "" "" "" "31"
"00364141" "" "" "" "1" "" "01695" "{PMID:Sodi 2016:26743751}" "" "M" "?" "Italy" "" "0" "" "" "" "32"
"00364142" "" "" "" "1" "" "01695" "{PMID:Nassisi 2019:31614660}" "" "M" "no" "France" "" "0" "" "" "" "CIC00251"
"00364143" "" "" "" "1" "" "01695" "{PMID:Nassisi 2019:31614660}" "" "M" "no" "France" "" "0" "" "" "" "CIC01275"
"00364144" "" "" "" "1" "" "01695" "{PMID:Nassisi 2019:31614660}" "" "F" "no" "France" "" "0" "" "" "" "CIC02688"
"00364145" "" "" "" "1" "" "01695" "{PMID:Nassisi 2019:31614660}" "" "F" "no" "France" "" "0" "" "" "" "CIC03648"
"00364146" "" "" "" "1" "" "01695" "{PMID:Nassisi 2019:31614660}" "" "M" "no" "France" "" "0" "" "" "" "CIC04422"
"00364147" "" "" "" "1" "" "01695" "{PMID:Nassisi 2019:31614660}" "" "F" "no" "France" "" "0" "" "" "" "CIC04795"
"00364148" "" "" "" "1" "" "01695" "{PMID:Nassisi 2019:31614660}" "Consanguineous cousin of CIC07955" "M" "no" "France" "" "0" "" "" "" "CIC06528"
"00364149" "" "" "" "1" "" "01695" "{PMID:Nassisi 2019:31614660}" "Consanguineous cousin of CIC06528" "M" "yes" "France" "" "0" "" "" "" "CIC07955"
"00364150" "" "" "" "1" "" "01695" "{PMID:Nassisi 2019:31614660}" "" "M" "no" "France" "" "0" "" "" "" "CIC06981"
"00364151" "" "" "" "1" "" "01695" "{PMID:Nassisi 2019:31614660}" "" "F" "no" "France" "" "0" "" "" "" "CIC08281"
"00364152" "" "" "" "1" "" "01695" "{PMID:Nassisi 2019:31614660}" "" "F" "no" "France" "" "0" "" "" "" "CIC07459"
"00364153" "" "" "" "1" "" "01695" "{PMID:Nassisi 2019:31614660}" "" "F" "no" "France" "" "0" "" "" "" "CIC08809"
"00364154" "" "" "" "1" "" "01695" "{PMID:Nassisi 2019:31614660}" "" "F" "no" "France" "" "0" "" "" "" "CIC09117"
"00364155" "" "" "" "1" "" "01695" "{PMID:Nassisi 2019:31614660}" "" "F" "no" "France" "" "0" "" "" "" "CIC09817"
"00364156" "" "" "" "1" "" "01695" "{PMID:Nassisi 2019:31614660}" "" "F" "no" "France" "" "0" "" "" "" "CIC10544"
"00364157" "" "" "" "1" "" "01695" "{PMID:Nassisi 2019:31614660}" "" "F" "no" "France" "" "0" "" "" "" "CIC03956"
"00364158" "" "" "" "1" "" "01695" "{PMID:Nassisi 2019:31614660}" "" "M" "no" "France" "" "0" "" "" "" "CIC01916"
"00364159" "" "" "" "1" "" "01695" "{PMID:Souied 1999:10458172}" "" "M" "no" "France" "" "0" "" "" "" "III.1, fam 1"
"00364160" "" "" "" "1" "" "01695" "{PMID:Souied 1999:10458172}" "" "F" "no" "France" "" "0" "" "" "" "III.1, fam 2"
"00364161" "" "" "" "1" "" "01695" "{PMID:Souied 1999:10458172}" "" "F" "no" "France" "" "0" "" "" "" "III.2, fam 2"
"00364162" "" "" "" "1" "" "01695" "{PMID:Souied 1999:10458172}" "" "" "no" "France" "" "0" "" "" "" "III.3, fam 2"
"00364163" "" "" "" "1" "" "01695" "{PMID:Scholl 2001:11328755}" "" "M" "no" "Germany" "" "0" "" "" "" "1"
"00364164" "" "" "" "1" "" "01695" "{PMID:Scholl 2001:11328755}" "" "F" "no" "Germany" "" "0" "" "" "" "2"
"00364165" "" "" "" "1" "" "01695" "{PMID:Scholl 2001:11328755}" "" "M" "no" "Germany" "" "0" "" "" "" "3"
"00364166" "" "" "" "1" "" "01695" "{PMID:Scholl 2001:11328755}" "" "M" "no" "Germany" "" "0" "" "" "" "4"
"00364167" "" "" "" "1" "" "01695" "{PMID:Scholl 2001:11328755}" "" "F" "no" "Germany" "" "0" "" "" "" "5"
"00364168" "" "" "" "1" "" "01695" "{PMID:Scholl 2001:11328755}" "" "M" "no" "Germany" "" "0" "" "" "" "6"
"00364169" "" "" "" "1" "" "01695" "{PMID:Scholl 2001:11328755}" "" "M" "no" "Germany" "" "0" "" "" "" "7"
"00364170" "" "" "" "1" "" "01695" "{PMID:Scholl 2001:11328755}" "" "M" "no" "Germany" "" "0" "" "" "" "9"
"00364171" "" "" "" "1" "" "01695" "{PMID:Scholl 2001:11328755}" "" "F" "no" "Germany" "" "0" "" "" "" "11"
"00364172" "" "" "" "1" "" "01695" "{PMID:Scholl 2001:11328755}" "" "M" "no" "Germany" "" "0" "" "" "" "12"
"00364173" "" "" "" "1" "" "01695" "{PMID:Scholl 2001:11328755}" "" "F" "no" "Germany" "" "0" "" "" "" "13"
"00364174" "" "" "" "1" "" "01695" "{PMID:Scholl 2001:11328755}" "" "F" "no" "Germany" "" "0" "" "" "" "14"
"00364175" "" "" "" "1" "" "01695" "{PMID:Scholl 2001:11328755}; {PMID:Reinhard 2007:17562343}" "" "F" "no" "Germany" "" "0" "" "" "" "15; 10"
"00364176" "" "" "" "1" "" "01695" "{PMID:Scholl 2001:11328755}" "" "F" "no" "Germany" "" "0" "" "" "" "16"
"00364177" "" "" "" "1" "" "01695" "{PMID:Scholl 2001:11328755}" "" "F" "no" "Germany" "" "0" "" "" "" "17"
"00364178" "" "" "" "1" "" "01695" "{PMID:Scholl 2001:11328755}" "" "M" "no" "Germany" "" "0" "" "" "" "18"
"00364179" "" "" "" "1" "" "01695" "{PMID:Scholl 2001:11328755}" "" "F" "no" "Germany" "" "0" "" "" "" "22"
"00364180" "" "" "" "1" "" "01695" "{PMID:Scholl 2001:11328755}" "" "M" "no" "Germany" "" "0" "" "" "" "23"
"00364181" "" "" "" "1" "" "01695" "{PMID:Scholl 2001:11328755}" "" "F" "no" "Germany" "" "0" "" "" "" "24"
"00364182" "" "" "" "1" "" "01695" "{PMID:Scholl 2001:11328755}" "" "F" "no" "Germany" "" "0" "" "" "" "27"
"00364183" "" "" "" "1" "" "01695" "{PMID:Scholl 2001:11328755}{PMID:Reinhard 2007:17562343}" "" "F" "no" "Germany" "" "0" "" "" "" "28; 19"
"00364184" "" "" "" "1" "" "01695" "{PMID:Scholl 2001:11328755}" "" "F" "no" "Germany" "" "0" "" "" "" "29"
"00364185" "" "" "" "1" "" "01695" "{PMID:Scholl 2001:11328755}" "" "F" "no" "Germany" "" "0" "" "" "" "30"
"00364186" "" "" "" "1" "" "01695" "{PMID:Scholl 2001:11328755}" "" "M" "no" "Germany" "" "0" "" "" "" "31"
"00364187" "" "" "" "1" "" "01695" "{PMID:Scholl 2001:11328755}" "" "F" "no" "Germany" "" "0" "" "" "" "32"
"00364188" "" "" "" "1" "" "01695" "{PMID:Scholl 2001:11328755}" "" "M" "no" "Germany" "" "0" "" "" "" "33"
"00364189" "" "" "" "1" "" "01695" "{PMID:Scholl 2001:11328755}" "" "F" "no" "Germany" "" "0" "" "" "" "34"
"00364190" "" "" "" "1" "" "01695" "{PMID:Scholl 2001:11328755}" "" "F" "no" "Germany" "" "0" "" "" "" "35"
"00364191" "" "" "" "1" "" "01695" "{PMID:Scholl 2001:11328755}{PMID:Scholl 2001:11372548}" "" "F" "no" "Germany" "" "0" "" "" "" "38; 2"
"00364192" "" "" "" "1" "" "01695" "{PMID:Scholl 2001:11328755}" "" "M" "no" "Germany" "" "0" "" "" "" "39"
"00364193" "" "" "" "1" "" "01695" "{PMID:Scholl 2001:11328755}" "" "M" "no" "Germany" "" "0" "" "" "" "40"
"00364194" "" "" "" "1" "" "01695" "{PMID:Scholl 2001:11328755}" "" "F" "no" "Germany" "" "0" "" "" "" "43"
"00364195" "" "" "" "1" "" "01695" "{PMID:Scholl 2001:11328755}" "" "M" "no" "Germany" "" "0" "" "" "" "44"
"00364196" "" "" "" "1" "" "01695" "{PMID:Scholl 2001:11328755}" "" "F" "no" "Germany" "" "0" "" "" "" "45"
"00364197" "" "" "" "1" "" "01695" "{PMID:Scholl 2001:11328755}" "" "M" "no" "Germany" "" "0" "" "" "" "46"
"00364198" "" "" "" "1" "" "01695" "{PMID:Scholl 2001:11328755}" "" "M" "no" "Germany" "" "0" "" "" "" "47"
"00364199" "" "" "" "1" "" "01695" "{PMID:Scholl 2001:11328755}{PMID:Reinhard 2007:17562343}" "Sibling of patient 20" "M" "no" "Germany" "" "0" "" "" "" "19"
"00364200" "" "" "" "1" "" "01695" "{PMID:Scholl 2001:11328755}{PMID:Reinhard 2007:17562343}" "Sibling of patient 19" "M" "no" "Germany" "" "0" "" "" "" "20"
"00364201" "" "" "" "1" "" "01695" "{PMID:Scholl 2001:11372548}" "" "M" "no" "" "" "0" "" "" "" "3"
"00364202" "" "" "" "1" "" "01695" "{PMID:Shroyer 2001:11384574}" "" "" "?" "United States" "" "0" "" "" "" "3"
"00364203" "" "" "" "1" "" "01695" "{PMID:Shroyer 2001:11384574}" "" "M" "?" "United States" "" "0" "" "" "" "7"
"00364204" "" "" "" "1" "" "01695" "{PMID:Eksandh 2001:11594993}" "Sibling of BII:2" "F" "no" "Sweden" "" "0" "" "" "" "BII:1"
"00364205" "" "" "" "1" "" "01695" "{PMID:Eksandh 2001:11594993}" "Sibling of BII:1" "F" "no" "Sweden" "" "0" "" "" "" "BII:2"
"00364206" "" "" "" "1" "" "01695" "{PMID:Eksandh 2001:11594993}" "Sibling of AII:2" "F" "no" "Sweden" "" "0" "" "" "" "AII:1"
"00364207" "" "" "" "1" "" "01695" "{PMID:Eksandh 2001:11594993}" "Sibling of AII:1" "M" "no" "Sweden" "" "0" "" "" "" "AII:2"
"00364208" "" "" "" "1" "" "01695" "{PMID:Oh 2004:15579991}" "" "F" "no" "United States" "" "0" "" "" "" "Patient 1"
"00364209" "" "" "" "1" "" "01695" "{PMID:Oh 2004:15579991}" "" "F" "no" "United States" "" "0" "" "" "" "Patient 2"
"00364210" "" "" "" "1" "" "01695" "{PMID:Oh 2004:15579991}" "" "M" "no" "United States" "" "0" "" "" "" "Patient 3"
"00364211" "" "" "" "1" "" "01695" "{PMID:Oh 2004:15579991}" "" "F" "no" "United States" "" "0" "" "" "" "Patient 4"
"00364212" "" "" "" "1" "" "01695" "{PMID:Wiszniewski 2005:16103129}" "multiple family members affected" "" "no" "United States" "" "0" "" "" "" "AR168-03"
"00364213" "" "" "" "1" "" "01695" "{PMID:Wiszniewski 2005:16103129}" "sibling of AR197-06" "M" "no" "United States" "" "0" "" "" "" "AR197-05"
"00364214" "" "" "" "1" "" "01695" "{PMID:Wiszniewski 2005:16103129}" "sibling of AR197-05" "F" "no" "United States" "" "0" "" "" "" "AR197-06"
"00364215" "" "" "" "1" "" "01695" "{PMID:Wiszniewski 2005:16103129}" "multiple family members affected" "" "no" "United States" "" "0" "" "" "" "AR591–04"
"00364216" "" "" "" "1" "" "01695" "{PMID:Wiszniewski 2005:16103129}" "has an affected younger brother" "M" "no" "United States" "" "0" "" "" "" "AR689-03"
"00364217" "" "" "" "1" "" "01695" "{PMID:Wiszniewski 2005:16103129}" "" "" "no" "United States" "" "0" "" "" "" "Unknown 1"
"00364218" "" "" "" "1" "" "01695" "{PMID:Wiszniewski 2005:16103129}" "" "" "no" "United States" "" "0" "" "" "" "Unknown 2"
"00364219" "" "" "" "1" "" "01695" "{PMID:Wiszniewski 2005:16103129}" "" "" "no" "United States" "" "0" "" "" "" "Unknown 3"
"00364220" "" "" "" "1" "" "01695" "{PMID:Wiszniewski 2005:16103129}" "" "" "no" "United States" "" "0" "" "" "" "Unknown 4"
"00364221" "" "" "" "1" "" "01695" "{PMID:Wiszniewski 2005:16103129}" "" "" "no" "United States" "" "0" "" "" "" "Unknown 5"
"00364222" "" "" "" "1" "" "01695" "{PMID:Wiszniewski 2005:16103129}" "" "" "no" "United States" "" "0" "" "" "" "Unknown 6"
"00364223" "" "" "" "1" "" "01695" "{PMID:Wiszniewski 2005:16103129}" "" "" "no" "United States" "" "0" "" "" "" "Unknown 7"
"00364224" "" "" "" "1" "" "01695" "{PMID:Wiszniewski 2005:16103129}" "" "" "no" "United States" "" "0" "" "" "" "Unknown 8"
"00364225" "" "" "" "1" "" "01695" "{PMID:Wiszniewski 2005:16103129}" "" "" "no" "United States" "" "0" "" "" "" "Unknown 9"
"00364226" "" "" "" "1" "" "01695" "{PMID:Wiszniewski 2005:16103129}" "" "" "no" "United States" "" "0" "" "" "" "Unknown 10"
"00364227" "" "" "" "1" "" "01695" "{PMID:Wiszniewski 2005:16103129}" "" "" "no" "United States" "" "0" "" "" "" "Unknown 11"
"00364228" "" "" "" "1" "" "01695" "{PMID:Wiszniewski 2005:16103129}" "" "" "no" "United States" "" "0" "" "" "" "Unknown 12"
"00364229" "" "" "" "1" "" "01695" "{PMID:Wiszniewski 2005:16103129}" "" "" "no" "United States" "" "0" "" "" "" "Unknown 13"
"00364230" "" "" "" "1" "" "01695" "{PMID:Wiszniewski 2005:16103129}" "" "" "no" "United States" "" "0" "" "" "" "Unknown 14"
"00364231" "" "" "" "1" "" "01695" "{PMID:Wiszniewski 2005:16103129}" "" "" "no" "United States" "" "0" "" "" "" "Unknown 15"
"00364232" "" "" "" "1" "" "01695" "{PMID:Wiszniewski 2005:16103129}" "" "" "no" "United States" "" "0" "" "" "" "Unknown 16"
"00364233" "" "" "" "1" "" "01695" "{PMID:Wiszniewski 2005:16103129}" "" "" "no" "United States" "" "0" "" "" "" "Unknown 17"
"00364234" "" "" "" "1" "" "01695" "{PMID:Wiszniewski 2005:16103129}" "" "" "no" "United States" "" "0" "" "" "" "Unknown 18"
"00364235" "" "" "" "1" "" "01695" "{PMID:Wiszniewski 2005:16103129}" "" "" "no" "United States" "" "0" "" "" "" "Unknown 19"
"00364236" "" "" "" "1" "" "01695" "{PMID:Wiszniewski 2005:16103129}" "" "" "no" "United States" "" "0" "" "" "" "Unknown 20"
"00364237" "" "" "" "1" "" "01695" "{PMID:Hargitai 2005:16303926}" "" "F" "?" "Hungary" "" "0" "" "" "" "2"
"00364238" "" "" "" "1" "" "01695" "{PMID:Hargitai 2005:16303926}" "" "F" "?" "Hungary" "" "0" "" "" "" "3"
"00364239" "" "" "" "1" "" "01695" "{PMID:Hargitai 2005:16303926}" "" "F" "?" "Hungary" "" "0" "" "" "" "5"
"00364240" "" "" "" "1" "" "01695" "{PMID:Hargitai 2005:16303926}" "" "M" "?" "Hungary" "" "0" "" "" "" "7"
"00364241" "" "" "" "1" "" "01695" "{PMID:Hargitai 2005:16303926}" "" "M" "?" "Hungary" "" "0" "" "" "" "8"
"00364242" "" "" "" "1" "" "01695" "{PMID:Hargitai 2005:16303926}" "" "M" "?" "Hungary" "" "0" "" "" "" "9"
"00364243" "" "" "" "1" "" "01695" "{PMID:Hargitai 2005:16303926}" "" "F" "?" "Hungary" "" "0" "" "" "" "11"
"00364244" "" "" "" "1" "" "01695" "{PMID:Hargitai 2005:16303926}" "" "M" "?" "Hungary" "" "0" "" "" "" "12"
"00364245" "" "" "" "1" "" "01695" "{PMID:Hargitai 2005:16303926}" "" "F" "?" "Hungary" "" "0" "" "" "" "14"
"00364246" "" "" "" "1" "" "01695" "{PMID:Hargitai 2005:16303926}" "" "F" "?" "Hungary" "" "0" "" "" "" "15"
"00364247" "" "" "" "1" "" "01695" "{PMID:Hargitai 2005:16303926}" "" "M" "?" "Hungary" "" "0" "" "" "" "17"
"00364248" "" "" "" "1" "" "01695" "{PMID:Hargitai 2005:16303926}" "" "M" "?" "Hungary" "" "0" "" "" "" "18"
"00364249" "" "" "" "1" "" "01695" "{PMID:Hargitai 2005:16303926}" "" "F" "?" "Hungary" "" "0" "" "" "" "20"
"00364250" "" "" "" "1" "" "01695" "{PMID:Hargitai 2005:16303926}" "" "F" "?" "Hungary" "" "0" "" "" "" "21"
"00364251" "" "" "" "1" "" "01695" "{PMID:Hargitai 2005:16303926}" "" "M" "?" "Hungary" "" "0" "" "" "" "22"
"00364252" "" "" "" "1" "" "01695" "{PMID:Hargitai 2005:16303926}" "" "F" "?" "Hungary" "" "0" "" "" "" "23"
"00364253" "" "" "" "1" "" "01695" "{PMID:Hargitai 2005:16303926}" "" "M" "?" "Hungary" "" "0" "" "" "" "25"
"00364254" "" "" "" "1" "" "01695" "{PMID:Hargitai 2005:16303926}" "" "F" "?" "Hungary" "" "0" "" "" "" "27"
"00364255" "" "" "" "1" "" "01695" "{PMID:Hargitai 2005:16303926}" "" "M" "?" "Hungary" "" "0" "" "" "" "28"
"00364256" "" "" "" "1" "" "01695" "{PMID:Hargitai 2005:16303926}" "" "M" "?" "Hungary" "" "0" "" "" "" "29"
"00364257" "" "" "" "1" "" "01695" "{PMID:Hargitai 2005:16303926}" "" "M" "?" "Hungary" "" "0" "" "" "" "30"
"00364258" "" "" "" "1" "" "01695" "{PMID:Hargitai 2005:16303926}" "" "M" "?" "Hungary" "" "0" "" "" "" "32"
"00364259" "" "" "" "1" "" "01695" "{PMID:Hargitai 2005:16303926}" "" "F" "?" "Hungary" "" "0" "" "" "" "35"
"00364260" "" "" "" "1" "" "01695" "{PMID:Fingert 2006:16682602}" "uniparental disomy" "F" "?" "United States" "" "0" "" "" "" "Unknown 21"
"00364261" "" "" "" "1" "" "01695" "{PMID:Sodi 2006:16703556}" "" "M" "?" "Italy" "" "0" "" "" "" "Unknown 22"
"00364262" "" "" "" "1" "" "01695" "{PMID:Ducroq 2006:16896346}" "Multiple consanguinity loops in the family" "M" "yes" "Israel" "" "0" "" "" "Arab-Christian" "III:1"
"00364263" "" "" "" "1" "" "01695" "{PMID:Ducroq 2006:16896346}" "Multiple consanguinity loops in the family" "F" "yes" "Israel" "" "0" "" "" "Arab-Christian" "III:2"
"00364264" "" "" "" "1" "" "01695" "{PMID:Ducroq 2006:16896346}" "Multiple consanguinity loops in the family" "F" "yes" "Israel" "" "0" "" "" "Arab-Christian" "IV:1"
"00364265" "" "" "" "1" "" "01695" "{PMID:Ducroq 2006:16896346}" "Multiple consanguinity loops in the family" "M" "yes" "Israel" "" "0" "" "" "Arab-Christian" "IV:2"
"00364266" "" "" "" "1" "" "01695" "{PMID:Ducroq 2006:16896346}" "Multiple consanguinity loops in the family" "M" "yes" "Israel" "" "0" "" "" "Arab-Christian" "IV:4"
"00364267" "" "" "" "1" "" "01695" "{PMID:Ducroq 2006:16896346}" "Multiple consanguinity loops in the family" "F" "yes" "Israel" "" "0" "" "" "Arab-Christian" "IV:5"
"00364268" "" "" "" "1" "" "01695" "{PMID:Ducroq 2006:16896346}" "Multiple consanguinity loops in the family" "M" "yes" "Israel" "" "0" "" "" "Arab-Christian" "IV:7"
"00364269" "" "" "" "1" "" "01695" "{PMID:Ducroq 2006:16896346}" "Multiple consanguinity loops in the family" "M" "yes" "Israel" "" "0" "" "" "Arab-Christian" "IV:8"
"00364270" "" "" "" "1" "" "01695" "{PMID:Ducroq 2006:16896346}" "Multiple consanguinity loops in the family" "F" "yes" "Israel" "" "0" "" "" "Arab-Christian" "V:1"
"00364271" "" "" "" "1" "" "01695" "{PMID:Ducroq 2006:16896346}" "Multiple consanguinity loops in the family" "F" "yes" "Israel" "" "0" "" "" "Arab-Christian" "V:3"
"00364272" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2006:17128450}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 23"
"00364273" "" "" "" "1" "" "01695" "{PMID:Downs 2007:17296903}" "" "" "?" "United States" "" "0" "" "" "" "Unknown 24"
"00364274" "" "" "" "1" "" "01695" "{PMID:Downs 2007:17296903}" "" "" "?" "United States" "" "0" "" "" "" "Unknown 25"
"00364275" "" "" "" "1" "" "01695" "{PMID:Downs 2007:17296903}" "" "" "?" "United States" "" "0" "" "" "" "Unknown 26"
"00364276" "" "" "" "1" "" "01695" "{PMID:Downs 2007:17296903}" "" "" "?" "United States" "" "0" "" "" "" "Unknown 27"
"00364277" "" "" "" "1" "" "01695" "{PMID:Downs 2007:17296903}" "" "" "?" "United States" "" "0" "" "" "" "Unknown 28"
"00364278" "" "" "" "1" "" "01695" "{PMID:Downs 2007:17296903}" "" "" "?" "United States" "" "0" "" "" "" "Unknown 29"
"00364279" "" "" "" "1" "" "01695" "{PMID:Downs 2007:17296903}" "" "" "?" "United States" "" "0" "" "" "" "Unknown 30"
"00364280" "" "" "" "1" "" "01695" "{PMID:Downs 2007:17296903}" "" "" "?" "United States" "" "0" "" "" "" "Unknown 31"
"00364281" "" "" "" "1" "" "01695" "{PMID:Downs 2007:17296903}" "" "" "?" "United States" "" "0" "" "" "" "Unknown 32"
"00364282" "" "" "" "1" "" "01695" "{PMID:Downs 2007:17296903}" "" "" "?" "United States" "" "0" "" "" "" "Unknown 33"
"00364283" "" "" "" "1" "" "01695" "{PMID:Downs 2007:17296903}" "" "" "?" "United States" "" "0" "" "" "" "Unknown 34"
"00364284" "" "" "" "1" "" "01695" "{PMID:Downs 2007:17296903}" "" "" "?" "United States" "" "0" "" "" "" "Unknown 35"
"00364285" "" "" "" "1" "" "01695" "{PMID:Downs 2007:17296903}" "" "" "?" "United States" "" "0" "" "" "" "Unknown 36"
"00364286" "" "" "" "1" "" "01695" "{PMID:Downs 2007:17296903}" "" "" "?" "United States" "" "0" "" "" "" "Unknown 37"
"00364287" "" "" "" "1" "" "01695" "{PMID:Downs 2007:17296903}" "" "" "?" "United States" "" "0" "" "" "" "Unknown 38"
"00364288" "" "" "" "1" "" "01695" "{PMID:Downs 2007:17296903}" "" "" "?" "United States" "" "0" "" "" "" "Unknown 39"
"00364289" "" "" "" "1" "" "01695" "{PMID:Downs 2007:17296903}" "" "" "?" "United States" "" "0" "" "" "" "Unknown 40"
"00364290" "" "" "" "1" "" "01695" "{PMID:Downs 2007:17296903}" "" "" "?" "United States" "" "0" "" "" "" "Unknown 41"
"00364291" "" "" "" "1" "" "01695" "{PMID:Downs 2007:17296903}" "" "" "?" "United States" "" "0" "" "" "" "Unknown 42"
"00364292" "" "" "" "1" "" "01695" "{PMID:Downs 2007:17296903}" "" "" "?" "United States" "" "0" "" "" "" "Unknown 43"
"00364293" "" "" "" "1" "" "01695" "{PMID:Downs 2007:17296903}" "" "" "?" "United States" "" "0" "" "" "" "Unknown 44"
"00364294" "" "" "" "1" "" "01695" "{PMID:Downs 2007:17296903}" "" "" "?" "United States" "" "0" "" "" "" "Unknown 45"
"00364295" "" "" "" "1" "" "01695" "{PMID:Downs 2007:17296903}" "" "" "?" "United States" "" "0" "" "" "" "Unknown 46"
"00364296" "" "" "" "1" "" "01695" "{PMID:Downs 2007:17296903}" "" "" "?" "United States" "" "0" "" "" "" "Unknown 47"
"00364297" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2006:17297691}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 49"
"00364298" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2006:17297692}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 50"
"00364299" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2006:17297693}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 51"
"00364300" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2006:17297718}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 52"
"00364301" "" "" "" "1" "" "01695" "{PMID:Aleman 2007:17325179}" "" "M" "?" "United States" "" "0" "" "" "" "1"
"00364302" "" "" "" "1" "" "01695" "{PMID:Aleman 2007:17325179}" "" "F" "?" "United States" "" "0" "" "" "" "2"
"00364303" "" "" "" "1" "" "01695" "{PMID:Aleman 2007:17325179}{PMID:Cideciyan 2007:17429493}" "" "F" "?" "United States" "" "0" "" "" "" "4"
"00364304" "" "" "" "1" "" "01695" "{PMID:Aleman 2007:17325179}" "" "M" "?" "United States" "" "0" "" "" "" "5"
"00364305" "" "" "" "1" "" "01695" "{PMID:Aleman 2007:17325179}{PMID:Cideciyan 2007:17429493}" "" "M" "?" "United States" "" "0" "" "" "" "6"
"00364306" "" "" "" "1" "" "01695" "{PMID:Aleman 2007:17325179}" "" "M" "?" "United States" "" "0" "" "" "" "9"
"00364307" "" "" "" "1" "" "01695" "{PMID:Aleman 2007:17325179}{PMID:Cideciyan 2007:17429493}" "" "F" "?" "United States" "" "0" "" "" "" "10"
"00364308" "" "" "" "1" "" "01695" "{PMID:Aleman 2007:17325179}" "" "F" "?" "United States" "" "0" "" "" "" "11"
"00364309" "" "" "" "1" "" "01695" "{PMID:Aleman 2007:17325179}" "" "M" "?" "United States" "" "0" "" "" "" "12"
"00364310" "" "" "" "1" "" "01695" "{PMID:Aleman 2007:17325179}{PMID:Cideciyan 2007:17429493}" "Sibling of patient 14" "F" "?" "United States" "" "0" "" "" "" "13"
"00364311" "" "" "" "1" "" "01695" "{PMID:Aleman 2007:17325179}{PMID:Cideciyan 2007:17429493}" "Sibling of patient 13" "F" "?" "United States" "" "0" "" "" "" "14"
"00364312" "" "" "" "1" "" "01695" "{PMID:Aleman 2007:17325179}" "" "F" "?" "United States" "" "0" "" "" "" "15"
"00364313" "" "" "" "1" "" "01695" "{PMID:Aleman 2007:17325179}" "" "M" "?" "United States" "" "0" "" "" "" "17"
"00364314" "" "" "" "1" "" "01695" "{PMID:Cideciyan 2007:17429493}" "" "M" "?" "United States" "" "0" "" "" "" "1"
"00364315" "" "" "" "1" "" "01695" "{PMID:Reinhard 2007:17562343}" "" "M" "?" "Germany" "" "0" "" "" "" "1"
"00364316" "" "" "" "1" "" "01695" "{PMID:Reinhard 2007:17562343}" "" "F" "?" "Germany" "" "0" "" "" "" "3"
"00364317" "" "" "" "1" "" "01695" "{PMID:Reinhard 2007:17562343}" "" "M" "?" "Germany" "" "0" "" "" "" "4"
"00364318" "" "" "" "1" "" "01695" "{PMID:Reinhard 2007:17562343}" "" "M" "?" "Germany" "" "0" "" "" "" "5"
"00364319" "" "" "" "1" "" "01695" "{PMID:Reinhard 2007:17562343}" "" "M" "?" "Germany" "" "0" "" "" "" "8"
"00364320" "" "" "" "1" "" "01695" "{PMID:Reinhard 2007:17562343}" "" "F" "?" "Germany" "" "0" "" "" "" "9"
"00364321" "" "" "" "1" "" "01695" "{PMID:Reinhard 2007:17562343}" "" "F" "?" "Germany" "" "0" "" "" "" "10"
"00364322" "" "" "" "1" "" "01695" "{PMID:Reinhard 2007:17562343}" "" "F" "?" "Germany" "" "0" "" "" "" "11"
"00364323" "" "" "" "1" "" "01695" "{PMID:Reinhard 2007:17562343}" "" "M" "?" "Germany" "" "0" "" "" "" "12"
"00364324" "" "" "" "1" "" "01695" "{PMID:Reinhard 2007:17562343}" "" "F" "?" "Germany" "" "0" "" "" "" "15"
"00364325" "" "" "" "1" "" "01695" "{PMID:Reinhard 2007:17562343}" "" "M" "?" "Germany" "" "0" "" "" "" "16"
"00364326" "" "" "" "1" "" "01695" "{PMID:Reinhard 2007:17562343}" "" "F" "?" "Germany" "" "0" "" "" "" "18"
"00364327" "" "" "" "1" "" "01695" "{PMID:Reinhard 2007:17562343}" "" "F" "?" "Germany" "" "0" "" "" "" "20"
"00364328" "" "" "" "1" "" "01695" "{PMID:Reinhard 2007:17562343}" "" "M" "?" "Germany" "" "0" "" "" "" "22"
"00364329" "" "" "" "1" "" "01695" "{PMID:Reinhard 2007:17562343}" "" "F" "?" "Germany" "" "0" "" "" "" "23"
"00364330" "" "" "" "1" "" "01695" "{PMID:Reinhard 2007:17562343}" "" "F" "?" "Germany" "" "0" "" "" "" "30"
"00364331" "" "" "" "1" "" "01695" "{PMID:Aguirre-Lambán 2007:17879441}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 53"
"00364332" "" "" "" "1" "" "01695" "{PMID:Stenirri 2007:17932850}" "" "" "?" "Spain" "" "0" "" "" "" "RP4"
"00364333" "" "" "" "1" "" "01695" "{PMID:Stenirri 2007:17932850}" "" "" "?" "Spain" "" "0" "" "" "" "RP5"
"00364334" "" "" "" "1" "" "01695" "{PMID:Stenirri 2007:17932850}" "" "" "?" "Spain" "" "0" "" "" "" "RP10"
"00364335" "" "" "" "1" "" "01695" "{PMID:Stenirri 2007:17932850}" "" "" "?" "Spain" "" "0" "" "" "" "RP18"
"00364336" "" "" "" "1" "" "01695" "{PMID:Stenirri 2007:17932850}" "" "" "?" "Spain" "" "0" "" "" "" "RP25"
"00364337" "" "" "" "1" "" "01695" "{PMID:Stenirri 2007:17932850}" "" "" "?" "Spain" "" "0" "" "" "" "STGD1"
"00364338" "" "" "" "1" "" "01695" "{PMID:Stenirri 2007:17932850}" "" "" "?" "Spain" "" "0" "" "" "" "STGD2"
"00364339" "" "" "" "1" "" "01695" "{PMID:Cremonesi 2003:12815600}" "" "" "?" "Italy" "" "0" "" "" "" "Unknown 54"
"00364340" "" "" "" "1" "" "01695" "{PMID:Cremonesi 2003:12815600}" "" "" "?" "Italy" "" "0" "" "" "" "Unknown 55"
"00364341" "" "" "" "1" "" "01695" "{PMID:Bini 2007:17997789}" "" "M" "?" "Italy" "" "0" "" "" "" "Unknown 56"
"00364342" "" "" "" "1" "" "01695" "{PMID:Aguirre-Lambán 2007:18380025}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 57"
"00364343" "" "" "" "1" "" "01695" "{PMID:Aguirre-Lambán 2007:18386363}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 58"
"00364344" "" "" "" "1" "" "01695" "{PMID:Maia-Lopes 2008:18386365}" "" "" "?" "Portugal" "" "0" "" "" "" "Unknown 59"
"00364345" "" "" "" "1" "" "01695" "{PMID:Maia-Lopes 2008:18386369}" "" "" "?" "Portugal" "" "0" "" "" "" "Unknown 60"
"00364346" "" "" "" "1" "" "01695" "{PMID:Aguirre-Lambán 2008:18846660}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 61"
"00364347" "" "" "" "1" "" "01695" "{PMID:Aguirre-Lambán 2008:18846675}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 62"
"00364348" "" "" "" "1" "" "01695" "{PMID:Aguirre-Lambán 2008:18846678}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 63"
"00364349" "" "" "" "1" "" "01695" "{PMID:Hwang 2008:18854780}" "" "M" "?" "United States" "" "0" "" "" "" "Case 1"
"00364350" "" "" "" "1" "" "01695" "{PMID:Hwang 2008:18854780}" "" "F" "?" "United States" "" "0" "" "" "" "Case 2"
"00364351" "" "" "" "1" "" "01695" "{PMID:Hwang 2008:18854780}" "" "F" "?" "United States" "" "0" "" "" "" "Case 3"
"00364352" "" "" "" "1" "" "01695" "{PMID:Hwang 2008:18854780}" "" "M" "?" "United States" "" "0" "" "" "" "Case 4"
"00364353" "" "" "" "1" "" "01695" "{PMID:Hwang 2008:18854780}" "Father of \'Son of case 5\'" "M" "?" "United States" "" "0" "" "" "" "Case 5"
"00364354" "" "" "" "1" "" "01695" "{PMID:Hwang 2008:18854780}" "Son of Case 5" "M" "?" "United States" "" "0" "" "" "" "Son of Case 5"
"00364355" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 64"
"00364356" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 65"
"00364357" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 66"
"00364358" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 67"
"00364359" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 68"
"00364360" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 69"
"00364361" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 70"
"00364362" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 71"
"00364363" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 72"
"00364364" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 73"
"00364365" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 74"
"00364366" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 75"
"00364367" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 76"
"00364368" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 77"
"00364369" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 78"
"00364370" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 79"
"00364371" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 80"
"00364372" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 81"
"00364373" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 82"
"00364374" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 83"
"00364375" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 84"
"00364376" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 85"
"00364377" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 86"
"00364378" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 87"
"00364379" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 88"
"00364380" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 89"
"00364381" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 90"
"00364382" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 91"
"00364383" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 92"
"00364384" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 93"
"00364385" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 94"
"00364386" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 95"
"00364387" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 96"
"00364388" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 97"
"00364389" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 98"
"00364390" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 99"
"00364391" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 100"
"00364392" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 101"
"00364393" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 102"
"00364394" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 103"
"00364395" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 104"
"00364396" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 105"
"00364397" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 106"
"00364398" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 107"
"00364399" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 108"
"00364400" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 109"
"00364401" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 110"
"00364402" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 111"
"00364403" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 112"
"00364404" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 113"
"00364405" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 114"
"00364406" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 115"
"00364407" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 116"
"00364408" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 117"
"00364409" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 118"
"00364410" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 119"
"00364411" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 120"
"00364412" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 121"
"00364413" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 122"
"00364414" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 123"
"00364415" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 124"
"00364416" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 125"
"00364417" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 126"
"00364418" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 127"
"00364419" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 128"
"00364420" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 129"
"00364421" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 130"
"00364422" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 131"
"00364423" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 132"
"00364424" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 133"
"00364425" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 134"
"00364426" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 135"
"00364427" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 136"
"00364428" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 137"
"00364429" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 138"
"00364430" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 139"
"00364431" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 140"
"00364432" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 141"
"00364433" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 142"
"00364434" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 143"
"00364435" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 144"
"00364436" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 145"
"00364437" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 146"
"00364438" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 147"
"00364439" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 148"
"00364440" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 149"
"00364441" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 150"
"00364442" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 151"
"00364443" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 152"
"00364444" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 153"
"00364445" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 154"
"00364446" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 155"
"00364447" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 156"
"00364448" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 157"
"00364449" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 158"
"00364450" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 159"
"00364451" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 160"
"00364452" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 161"
"00364453" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 162"
"00364454" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 163"
"00364455" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 164"
"00364456" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 165"
"00364457" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 166"
"00364458" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 167"
"00364459" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 168"
"00364460" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 169"
"00364461" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 170"
"00364462" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 171"
"00364463" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 172"
"00364464" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 173"
"00364465" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 174"
"00364466" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 175"
"00364467" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 176"
"00364468" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 177"
"00364469" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 178"
"00364470" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 179"
"00364471" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 180"
"00364472" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 181"
"00364473" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 182"
"00364474" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 183"
"00364475" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 184"
"00364476" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 185"
"00364477" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 186"
"00364478" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 187"
"00364479" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 188"
"00364480" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 189"
"00364481" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 190"
"00364482" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 191"
"00364483" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 192"
"00364484" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 193"
"00364485" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 194"
"00364486" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 195"
"00364487" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 196"
"00364488" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 197"
"00364489" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 198"
"00364490" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 199"
"00364491" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 200"
"00364492" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 201"
"00364493" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 202"
"00364494" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 203"
"00364495" "" "" "" "1" "" "01695" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 204"
"00364496" "" "" "" "1" "" "01695" "{PMID:Aguirre-Lamban 2009:19028736}" "" "F" "?" "Spain" "" "0" "" "" "" "ARDM-240"
"00364497" "" "" "" "1" "" "01695" "{PMID:Aguirre-Lamban 2009:19028736}" "" "" "?" "Spain" "" "0" "" "" "" "ARDM-162"
"00364498" "" "" "" "1" "" "01695" "{PMID:Aguirre-Lamban 2009:19028736}" "" "" "?" "Spain" "" "0" "" "" "" "ARDM-198"
"00364499" "" "" "" "1" "" "01695" "{PMID:Aguirre-Lamban 2009:19028736}" "" "" "?" "Spain" "" "0" "" "" "" "ARDM-165"
"00364500" "" "" "" "1" "" "01695" "{PMID:Aguirre-Lamban 2009:19028736}" "" "" "?" "Spain" "" "0" "" "" "" "ARDM-167"
"00364501" "" "" "" "1" "" "01695" "{PMID:Aguirre-Lamban 2009:19028736}" "" "" "?" "Spain" "" "0" "" "" "" "ARDM-197"
"00364502" "" "" "" "1" "" "01695" "{PMID:Aguirre-Lamban 2009:19028736}" "" "" "?" "Spain" "" "0" "" "" "" "ARDM-166"
"00364503" "" "" "" "1" "" "01695" "{PMID:Aguirre-Lamban 2009:19028736}" "" "" "?" "Spain" "" "0" "" "" "" "ARDM-222"
"00364504" "" "" "" "1" "" "01695" "{PMID:Aguirre-Lamban 2009:19028736}" "" "" "?" "Spain" "" "0" "" "" "" "ARDM-205"
"00364505" "" "" "" "1" "" "01695" "{PMID:Aguirre-Lamban 2009:19028736}" "" "" "?" "Spain" "" "0" "" "" "" "ARDM-99"
"00364506" "" "" "" "1" "" "01695" "{PMID:Aguirre-Lamban 2009:19028736}" "" "" "?" "Spain" "" "0" "" "" "" "ARDM-131"
"00364507" "" "" "" "1" "" "01695" "{PMID:Aguirre-Lamban 2009:19028736}" "" "" "?" "Spain" "" "0" "" "" "" "RP-773"
"00364508" "" "" "" "1" "" "01695" "{PMID:Aguirre-Lamban 2009:19028736}" "" "" "?" "Spain" "" "0" "" "" "" "RP-959"
"00364509" "" "" "" "1" "" "01695" "{PMID:Aguirre-Lamban 2009:19028736}" "" "" "?" "Spain" "" "0" "" "" "" "RP-1058"
"00364510" "" "" "" "1" "" "01695" "{PMID:Kellner 2009:19243736}" "" "F" "?" "Germany" "" "0" "" "" "" "2808"
"00364511" "" "" "" "1" "" "01695" "{PMID:Kellner 2009:19243736}" "" "F" "?" "Germany" "" "0" "" "" "" "2830"
"00364512" "" "" "" "1" "" "01695" "{PMID:Kellner 2009:19243736}" "" "M" "?" "Germany" "" "0" "" "" "" "2797"
"00364513" "" "" "" "1" "" "01695" "{PMID:Kellner 2009:19243736}" "" "F" "?" "Germany" "" "0" "" "" "" "2872"
"00364514" "" "" "" "1" "" "01695" "{PMID:Kellner 2009:19243736}" "" "F" "?" "Germany" "" "0" "" "" "" "2861"
"00364515" "" "" "" "1" "" "01695" "{PMID:Kellner 2009:19243736}" "" "F" "?" "Germany" "" "0" "" "" "" "2644"
"00364516" "" "" "" "1" "" "01695" "{PMID:Kellner 2009:19243736}" "" "F" "?" "Germany" "" "0" "" "" "" "2936"
"00364517" "" "" "" "1" "" "01695" "{PMID:Kellner 2009:19243736}" "" "M" "?" "Germany" "" "0" "" "" "" "2837"
"00364518" "" "" "" "1" "" "01695" "{PMID:Kellner 2009:19243736}" "" "M" "?" "Germany" "" "0" "" "" "" "2780"
"00364519" "" "" "" "1" "" "01695" "{PMID:Kellner 2009:19243736}" "" "F" "?" "Germany" "" "0" "" "" "" "2942"
"00364520" "" "" "" "1" "" "01695" "{PMID:Kellner 2009:19243736}" "" "F" "?" "Germany" "" "0" "" "" "" "2930"
"00364521" "" "" "" "1" "" "01695" "{PMID:Kellner 2009:19243736}" "" "F" "?" "Germany" "" "0" "" "" "" "2933"
"00364522" "" "" "" "1" "" "01695" "{PMID:Kellner 2009:19243736}" "" "F" "?" "Germany" "" "0" "" "" "" "2669"
"00364523" "" "" "" "1" "" "01695" "{PMID:Kellner 2009:19243736}" "" "F" "?" "Germany" "" "0" "" "" "" "2700"
"00364524" "" "" "" "1" "" "01695" "{PMID:Kellner 2009:19243736}" "" "M" "?" "Germany" "" "0" "" "" "" "2833"
"00364525" "" "" "" "1" "" "01695" "{PMID:Kellner 2009:19243736}" "" "M" "?" "Germany" "" "0" "" "" "" "2799"
"00364526" "" "" "" "1" "" "01695" "{PMID:Gomes 2009:19324865}" "" "M" "?" "United States" "" "0" "" "" "" "1"
"00364527" "" "" "" "1" "" "01695" "{PMID:Gomes 2009:19324865}" "" "M" "?" "United States" "" "0" "" "" "" "3"
"00364528" "" "" "" "1" "" "01695" "{PMID:Gomes 2009:19324865}" "" "M" "?" "United States" "" "0" "" "" "" "4"
"00364529" "" "" "" "1" "" "01695" "{PMID:Gomes 2009:19324865}" "" "F" "?" "United States" "" "0" "" "" "" "5"
"00364530" "" "" "" "1" "" "01695" "{PMID:Gomes 2009:19324865}" "" "F" "?" "United States" "" "0" "" "" "" "6"
"00364531" "" "" "" "1" "" "01695" "{PMID:Gomes 2009:19324865}" "" "F" "?" "United States" "" "0" "" "" "" "7"
"00364532" "" "" "" "1" "" "01695" "{PMID:Gomes 2009:19324865}" "" "F" "?" "United States" "" "0" "" "" "" "8"
"00364533" "" "" "" "1" "" "01695" "{PMID:Gomes 2009:19324865}" "" "F" "?" "United States" "" "0" "" "" "" "9"
"00364534" "" "" "" "1" "" "01695" "{PMID:Gomes 2009:19324865}" "" "F" "?" "United States" "" "0" "" "" "" "10"
"00364535" "" "" "" "1" "" "01695" "{PMID:Gomes 2009:19324865}" "" "F" "?" "United States" "" "0" "" "" "" "11"
"00364536" "" "" "" "1" "" "01695" "{PMID:Roberts 2009:19365039}" "no heterozygosity in the allele: possibly there is a big deletion instead of homozygosity" "" "?" "South Africa" "" "0" "" "" "black;Africa-Xhosa" "RPS1111.1"
"00364537" "" "" "" "1" "" "01695" "{PMID:Roberts 2009:19365039}" "" "M" "?" "South Africa" "" "0" "" "" "" "RPS141"
"00364538" "" "" "" "1" "" "01695" "{PMID:Roberts 2009:19365039}" "" "F" "?" "South Africa" "" "0" "" "" "" "RPS145"
"00364539" "" "" "" "1" "" "01695" "{PMID:Roberts 2009:19365039}" "" "M" "yes" "South Africa" "" "0" "" "" "" "RPS263"
"00364540" "" "" "" "1" "" "01695" "{PMID:Roberts 2009:19365039}" "" "F" "?" "South Africa" "" "0" "" "" "" "RPS593"
"00364541" "" "" "" "1" "" "01695" "{PMID:Pasadhika 2009:19406377}" "" "F" "?" "United States" "" "0" "" "" "white" "1"
"00364542" "" "" "" "1" "" "01695" "{PMID:Pasadhika 2009:19406377}" "" "F" "?" "United States" "" "0" "" "" "white" "2"
"00364543" "" "" "" "1" "" "01695" "{PMID:Pasadhika 2009:19406377}" "" "M" "?" "United States" "" "0" "" "" "white" "3"
"00364544" "" "" "" "1" "" "01695" "{PMID:Pasadhika 2009:19406377}" "" "F" "?" "United States" "" "0" "" "" "African American" "4"
"00364545" "" "" "" "1" "" "01695" "{PMID:Aguirre-Lambán 2009:19694024}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 205"
"00364546" "" "" "" "1" "" "01695" "{PMID:Aguirre-Lambán 2009:19693992}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 206"
"00364547" "" "" "" "1" "" "01695" "{PMID:Aguirre-Lambán 2010:20108396}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 207"
"00364548" "" "" "" "1" "" "01695" "{PMID:Aguirre-Lambán 2010:20108432}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 208"
"00364549" "" "" "" "1" "" "01695" "{PMID:Sohrab 2010:20149343}" "" "M" "?" "United States" "" "0" "" "" "" "Unknown 209"
"00364550" "" "" "" "1" "" "01695" "{PMID:Fujinami 2011:20163366}" "frequency in \'other\' populations in gnomAD show a high prevalence of this mutation" "M" "?" "Japan" "" "0" "" "" "" "Unknown 210"
"00364551" "" "" "" "1" "" "01695" "{PMID:Chen 2010:20398653}" "" "" "?" "United States" "" "0" "" "" "" "S0023"
"00364552" "" "" "" "1" "" "01695" "{PMID:Chen 2010:20398653}" "" "" "?" "United States" "" "0" "" "" "" "S0050"
"00364553" "" "" "" "1" "" "01695" "{PMID:Chen 2010:20398653}" "" "" "?" "United States" "" "0" "" "" "" "S0045"
"00364554" "" "" "" "1" "" "01695" "{PMID:Chen 2010:20398653}" "" "" "?" "United States" "" "0" "" "" "" "S0018"
"00364555" "" "" "" "1" "" "01695" "{PMID:Chen 2010:20398653}" "" "" "?" "United States" "" "0" "" "" "" "S0033"
"00364556" "" "" "" "1" "" "01695" "{PMID:Chen 2010:20398653}" "" "" "?" "United States" "" "0" "" "" "" "S0048"
"00364557" "" "" "" "1" "" "01695" "{PMID:Chen 2010:20398653}" "" "" "?" "United States" "" "0" "" "" "" "S0036"
"00364558" "" "" "" "1" "" "01695" "{PMID:Chen 2010:20398653}" "" "" "?" "United States" "" "0" "" "" "" "S0029"
"00364559" "" "" "" "1" "" "01695" "{PMID:Chen 2010:20398653}" "" "" "?" "United States" "" "0" "" "" "" "S0078"
"00364560" "" "" "" "1" "" "01695" "{PMID:Chen 2010:20398653}" "" "" "?" "United States" "" "0" "" "" "" "S0032"
"00364561" "" "" "" "1" "" "01695" "{PMID:Chen 2010:20398653}" "" "" "?" "United States" "" "0" "" "" "" "S0051"
"00364562" "" "" "" "1" "" "01695" "{PMID:Chen 2010:20398653}" "" "" "?" "United States" "" "0" "" "" "" "S0042"
"00364563" "" "" "" "1" "" "01695" "{PMID:Chen 2010:20398653}" "" "" "?" "United States" "" "0" "" "" "" "S0037"
"00364564" "" "" "" "1" "" "01695" "{PMID:Chen 2010:20398653}" "" "" "?" "United States" "" "0" "" "" "" "S0041"
"00364565" "" "" "" "1" "" "01695" "{PMID:Chen 2010:20398653}" "" "" "?" "United States" "" "0" "" "" "" "S0087"
"00364566" "" "" "" "1" "" "01695" "{PMID:Chen 2010:20398653}" "" "" "?" "United States" "" "0" "" "" "" "S0053"
"00364567" "" "" "" "1" "" "01695" "{PMID:Chen 2010:20398653}" "" "" "?" "United States" "" "0" "" "" "" "S0097"
"00364568" "" "" "" "1" "" "01695" "{PMID:Chen 2010:20398653}" "" "" "?" "United States" "" "0" "" "" "" "S0080"
"00364569" "" "" "" "1" "" "01695" "{PMID:Chen 2010:20398653}" "" "" "?" "United States" "" "0" "" "" "" "S0046"
"00364570" "" "" "" "1" "" "01695" "{PMID:Chen 2010:20398653}" "" "" "?" "United States" "" "0" "" "" "" "S0083"
"00364571" "" "" "" "1" "" "01695" "{PMID:Chen 2010:20398653}" "" "" "?" "United States" "" "0" "" "" "" "S0076"
"00364572" "" "" "" "1" "" "01695" "{PMID:Chen 2010:20398653}" "" "" "?" "United States" "" "0" "" "" "" "S0085"
"00364573" "" "" "" "1" "" "01695" "{PMID:Chen 2010:20398653}" "" "" "?" "United States" "" "0" "" "" "" "S0044"
"00364574" "" "" "" "1" "" "01695" "{PMID:Chen 2010:20398653}" "" "" "?" "United States" "" "0" "" "" "" "S0035"
"00364575" "" "" "" "1" "" "01695" "{PMID:Chen 2010:20398653}" "" "" "?" "United States" "" "0" "" "" "" "S0065"
"00364576" "" "" "" "1" "" "01695" "{PMID:Chen 2010:20398653}" "" "" "?" "United States" "" "0" "" "" "" "S0088"
"00364577" "" "" "" "1" "" "01695" "{PMID:Chen 2010:20398653}" "" "" "?" "United States" "" "0" "" "" "" "S0127"
"00364578" "" "" "" "1" "" "01695" "{PMID:Chen 2010:20398653}" "" "" "?" "United States" "" "0" "" "" "" "S0043"
"00364579" "" "" "" "1" "" "01695" "{PMID:Chen 2010:20398653}" "" "" "?" "United States" "" "0" "" "" "" "S0101"
"00364580" "" "" "" "1" "" "01695" "{PMID:Chen 2010:20398653}" "" "" "?" "United States" "" "0" "" "" "" "S0110"
"00364581" "" "" "" "1" "" "01695" "{PMID:Chen 2010:20398653}" "" "" "?" "United States" "" "0" "" "" "" "S0049"
"00364582" "" "" "" "1" "" "01695" "{PMID:Chen 2010:20398653}" "" "" "?" "United States" "" "0" "" "" "" "S0075"
"00364583" "" "" "" "1" "" "01695" "{PMID:Chen 2010:20398653}" "" "" "?" "United States" "" "0" "" "" "" "S0039"
"00364584" "" "" "" "1" "" "01695" "{PMID:Chen 2010:20398653}" "" "" "?" "United States" "" "0" "" "" "" "S0054"
"00364585" "" "" "" "1" "" "01695" "{PMID:Chen 2010:20398653}" "" "" "?" "United States" "" "0" "" "" "" "S0040"
"00364586" "" "" "" "1" "" "01695" "{PMID:Chen 2010:20398653}" "" "" "?" "United States" "" "0" "" "" "" "S0028"
"00364587" "" "" "" "1" "" "01695" "{PMID:Aguirre-Lambán 2008:20960623}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 211"
"00364588" "" "" "" "1" "" "01695" "{PMID:Aguirre-Lambán 2008:20960624}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 212"
"00364589" "" "" "" "1" "" "01695" "{PMID:Aguirre-Lambán 2008:20960628}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 213"
"00364590" "" "" "" "1" "" "01695" "{PMID:Aguirre-Lambán 2008:20960632}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 214"
"00364591" "" "" "" "1" "" "01695" "{PMID:Aguirre-Lambán 2008:20960633}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 215"
"00364592" "" "" "" "1" "" "01695" "{PMID:Maia-Lopes 2008:20960665}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 216"
"00364593" "" "" "" "1" "" "01695" "{PMID:Anastasakis 2011:21293320}" "" "M" "?" "United States" "" "0" "" "" "white" "2"
"00364594" "" "" "" "1" "" "01695" "{PMID:Anastasakis 2011:21293320}" "" "M" "?" "United States" "" "0" "" "" "white" "3"
"00364595" "" "" "" "1" "" "01695" "{PMID:Anastasakis 2011:21293320}" "" "F" "?" "United States" "" "0" "" "" "white" "4"
"00364596" "" "" "" "1" "" "01695" "{PMID:Anastasakis 2011:21293320}" "" "F" "?" "United States" "" "0" "" "" "white" "6"
"00364597" "" "" "" "1" "" "01695" "{PMID:Aguirre-Lambán 2011:21330655}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 217"
"00364598" "" "" "" "1" "" "01695" "{PMID:Aguirre-Lambán 2011:21330655}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 218"
"00364599" "" "" "" "1" "" "01695" "{PMID:Aguirre-Lambán 2011:21330655}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 219"
"00364600" "" "" "" "1" "" "01695" "{PMID:Aguirre-Lambán 2011:21330655}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 220"
"00364601" "" "" "" "1" "" "01695" "{PMID:Aguirre-Lambán 2011:21330655}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 221"
"00364602" "" "" "" "1" "" "01695" "{PMID:Aguirre-Lambán 2011:21330655}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 222"
"00364603" "" "" "" "1" "" "01695" "{PMID:Aguirre-Lambán 2011:21330655}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 223"
"00364604" "" "" "" "1" "" "01695" "{PMID:Aguirre-Lambán 2011:21330655}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 224"
"00364605" "" "" "" "1" "" "01695" "{PMID:Aguirre-Lambán 2011:21330655}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 225"
"00364606" "" "" "" "1" "" "01695" "{PMID:Aguirre-Lambán 2011:21330655}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 226"
"00364607" "" "" "" "1" "" "01695" "{PMID:Aguirre-Lambán 2011:21330655}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 227"
"00364608" "" "" "" "1" "" "01695" "{PMID:Aguirre-Lambán 2011:21330655}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 228"
"00364609" "" "" "" "1" "" "01695" "{PMID:Aguirre-Lambán 2011:21330655}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 229"
"00364610" "" "" "" "1" "" "01695" "{PMID:Aguirre-Lambán 2011:21330655}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 230"
"00364611" "" "" "" "1" "" "01695" "{PMID:Aguirre-Lambán 2011:21330655}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 231"
"00364612" "" "" "" "1" "" "01695" "{PMID:Aguirre-Lambán 2011:21330655}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 232"
"00364613" "" "" "" "1" "" "01695" "{PMID:Aguirre-Lambán 2011:21330655}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 233"
"00364614" "" "" "" "1" "" "01695" "{PMID:Aguirre-Lambán 2011:21330655}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 234"
"00364615" "" "" "" "1" "" "01695" "{PMID:Aguirre-Lambán 2011:21330655}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 235"
"00364616" "" "" "" "1" "" "01695" "{PMID:Aguirre-Lambán 2011:21330655}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 236"
"00364617" "" "" "" "1" "" "01695" "{PMID:Aguirre-Lambán 2011:21330655}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 237"
"00364618" "" "" "" "1" "" "01695" "{PMID:Aguirre-Lambán 2011:21330655}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 238"
"00364619" "" "" "" "1" "" "01695" "{PMID:Aguirre-Lambán 2011:21330655}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 239"
"00364620" "" "" "" "1" "" "01695" "{PMID:Aguirre-Lambán 2011:21330655}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 240"
"00364621" "" "" "" "1" "" "01695" "{PMID:Aguirre-Lambán 2011:21330655}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 241"
"00364622" "" "" "" "1" "" "01695" "{PMID:Aguirre-Lambán 2011:21330655}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 242"
"00364623" "" "" "" "1" "" "01695" "{PMID:Aguirre-Lambán 2011:21330655}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 243"
"00364624" "" "" "" "1" "" "01695" "{PMID:Aguirre-Lambán 2011:21330655}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 244"
"00364625" "" "" "" "1" "" "01695" "{PMID:Aguirre-Lambán 2011:21330655}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 245"
"00364626" "" "" "" "1" "" "01695" "{PMID:Aguirre-Lambán 2011:21330655}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 246"
"00364627" "" "" "" "1" "" "01695" "{PMID:Aguirre-Lambán 2011:21330655}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 247"
"00364628" "" "" "" "1" "" "01695" "{PMID:Aguirre-Lambán 2011:21330655}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 248"
"00364629" "" "" "" "1" "" "01695" "{PMID:Aguirre-Lambán 2011:21330655}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 249"
"00364630" "" "" "" "1" "" "01695" "{PMID:Aguirre-Lambán 2011:21330655}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 250"
"00364631" "" "" "" "1" "" "01695" "{PMID:Aguirre-Lambán 2011:21330655}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 251"
"00364632" "" "" "" "1" "" "01695" "{PMID:Aguirre-Lambán 2011:21330655}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 252"
"00364633" "" "" "" "1" "" "01695" "{PMID:Aguirre-Lambán 2011:21330655}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 253"
"00364634" "" "" "" "1" "" "01695" "{PMID:Aguirre-Lambán 2011:21330655}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 254"
"00364635" "" "" "" "1" "" "01695" "{PMID:Aguirre-Lambán 2011:21330655}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 255"
"00364636" "" "" "" "1" "" "01695" "{PMID:Aguirre-Lambán 2011:21330655}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 256"
"00364637" "" "" "" "1" "" "01695" "{PMID:Aguirre-Lambán 2011:21330655}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 257"
"00364638" "" "" "" "1" "" "01695" "{PMID:Aguirre-Lambán 2011:21330655}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 258"
"00364639" "" "" "" "1" "" "01695" "{PMID:Aguirre-Lambán 2011:21330655}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 259"
"00364640" "" "" "" "1" "" "01695" "{PMID:Aguirre-Lambán 2011:21330655}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 260"
"00364641" "" "" "" "1" "" "01695" "{PMID:Aguirre-Lambán 2011:21330655}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 261"
"00364642" "" "" "" "1" "" "01695" "{PMID:Aguirre-Lambán 2011:21330655}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 262"
"00364643" "" "" "" "1" "" "01695" "{PMID:Aguirre-Lambán 2011:21330655}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 263"
"00364644" "" "" "" "1" "" "01695" "{PMID:Aguirre-Lambán 2011:21330655}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 264"
"00364645" "" "" "" "1" "" "01695" "{PMID:Aguirre-Lambán 2011:21330655}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 265"
"00364646" "" "" "" "1" "" "01695" "{PMID:Aguirre-Lambán 2011:21330655}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 266"
"00364647" "" "" "" "1" "" "01695" "{PMID:Aguirre-Lambán 2011:21330655}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 267"
"00364648" "" "" "" "1" "" "01695" "{PMID:Aguirre-Lambán 2011:21330655}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 268"
"00364649" "" "" "" "1" "" "01695" "{PMID:Aguirre-Lambán 2011:21330655}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 269"
"00364650" "" "" "" "1" "" "01695" "{PMID:Aguirre-Lambán 2011:21330655}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 270"
"00364651" "" "" "" "1" "" "01695" "{PMID:Aguirre-Lambán 2011:21330655}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 271"
"00364652" "" "" "" "1" "" "01695" "{PMID:Aguirre-Lambán 2011:21330655}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 272"
"00364653" "" "" "" "1" "" "01695" "{PMID:Aguirre-Lambán 2011:21330655}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 273"
"00364654" "" "" "" "1" "" "01695" "{PMID:Aguirre-Lambán 2011:21330655}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 274"
"00364655" "" "" "" "1" "" "01695" "{PMID:Aguirre-Lambán 2011:21330655}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 275"
"00364656" "" "" "" "1" "" "01695" "{PMID:Aguirre-Lambán 2011:21330655}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 276"
"00364657" "" "" "" "1" "" "01695" "{PMID:Aguirre-Lambán 2011:21330655}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 277"
"00364658" "" "" "" "1" "" "01695" "{PMID:Aguirre-Lambán 2011:21330655}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 278"
"00364659" "" "" "" "1" "" "01695" "{PMID:Aguirre-Lambán 2011:21330655}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 279"
"00364660" "" "" "" "1" "" "01695" "{PMID:Aguirre-Lambán 2011:21330655}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 280"
"00364661" "" "" "" "1" "" "01695" "{PMID:Aguirre-Lambán 2011:21330655}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 281"
"00364662" "" "" "" "1" "" "01695" "{PMID:Aguirre-Lambán 2011:21330655}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 282"
"00364663" "" "" "" "1" "" "01695" "{PMID:Aguirre-Lambán 2011:21330655}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 283"
"00364664" "" "" "" "1" "" "01695" "{PMID:Aguirre-Lambán 2011:21330655}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 284"
"00364665" "" "" "" "1" "" "01695" "{PMID:Aguirre-Lambán 2011:21330655}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 285"
"00364666" "" "" "" "1" "" "01695" "{PMID:Aguirre-Lambán 2011:21330655}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 286"
"00364667" "" "" "" "1" "" "01695" "{PMID:Aguirre-Lambán 2011:21330655}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 287"
"00364668" "" "" "" "1" "" "01695" "{PMID:Aguirre-Lambán 2011:21330655}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 288"
"00364669" "" "" "" "1" "" "01695" "{PMID:Aguirre-Lambán 2011:21330655}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 289"
"00364670" "" "" "" "1" "" "01695" "{PMID:Aguirre-Lambán 2011:21330655}" "" "" "?" "Spain" "" "0" "" "" "" "Unknown 290"
"00364671" "" "" "" "1" "" "01695" "{PMID:Burke 2011:21873672}" "" "F" "?" "United States" "" "0" "" "" "" "1"
"00364672" "" "" "" "1" "" "01695" "{PMID:Burke 2011:21873672}" "" "M" "?" "United States" "" "0" "" "" "" "2"
"00364673" "" "" "" "1" "" "01695" "{PMID:Burke 2011:21873672}" "" "F" "?" "United States" "" "0" "" "" "" "3"
"00364674" "" "" "" "1" "" "01695" "{PMID:Burke 2011:21873672}" "" "M" "?" "United States" "" "0" "" "" "" "4"
"00364675" "" "" "" "1" "" "01695" "{PMID:Burke 2011:21873672}" "likely a family member of 5.2" "F" "?" "United States" "" "0" "" "" "" "5,1"
"00364676" "" "" "" "1" "" "01695" "{PMID:Burke 2011:21873672}" "likely a family member of 5.1" "F" "?" "United States" "" "0" "" "" "" "5,2"
"00364677" "" "" "" "1" "" "01695" "{PMID:Burke 2011:21873672}" "likely a family member of 6.2" "F" "?" "United States" "" "0" "" "" "" "6,1"
"00364678" "" "" "" "1" "" "01695" "{PMID:Burke 2011:21873672}" "likely a family member of 6.1" "F" "?" "United States" "" "0" "" "" "" "6,2"
"00364679" "" "" "" "1" "" "01695" "{PMID:Burke 2011:21873672}" "" "F" "?" "United States" "" "0" "" "" "" "7"
"00364680" "" "" "" "1" "" "01695" "{PMID:Burke 2011:21873672}" "" "M" "?" "United States" "" "0" "" "" "" "8"
"00364681" "" "" "" "1" "" "01695" "{PMID:Burke 2011:21873672}" "" "M" "?" "United States" "" "0" "" "" "" "9"
"00364682" "" "" "" "1" "" "01695" "{PMID:Burke 2011:21873672}" "" "F" "?" "United States" "" "0" "" "" "" "10"
"00364683" "" "" "" "1" "" "01695" "{PMID:Burke 2011:21873672}" "" "M" "?" "United States" "" "0" "" "" "" "11"
"00364684" "" "" "" "1" "" "01695" "{PMID:Burke 2011:21873672}" "" "M" "?" "United States" "" "0" "" "" "" "12"
"00364685" "" "" "" "1" "" "01695" "{PMID:Burke 2011:21873672}" "" "M" "?" "United States" "" "0" "" "" "" "13"
"00364686" "" "" "" "1" "" "01695" "{PMID:Burke 2011:21873672}" "" "F" "?" "United States" "" "0" "" "" "" "14"
"00364687" "" "" "" "1" "" "01695" "{PMID:Burke 2011:21873672}" "" "M" "?" "United States" "" "0" "" "" "" "15"
"00364688" "" "" "" "1" "" "01695" "{PMID:Burke 2011:21873672}" "" "M" "?" "United States" "" "0" "" "" "" "16"
"00364689" "" "" "" "1" "" "01695" "{PMID:Burke 2011:21873672}" "" "M" "?" "United States" "" "0" "" "" "" "17"
"00364690" "" "" "" "1" "" "01695" "{PMID:Burke 2011:21873672}" "" "F" "?" "United States" "" "0" "" "" "" "18"
"00364691" "" "" "" "1" "" "01695" "{PMID:Burke 2011:21873672}" "" "F" "?" "United States" "" "0" "" "" "" "19"
"00364692" "" "" "" "1" "" "01695" "{PMID:Burke 2011:21873672}" "" "F" "?" "United States" "" "0" "" "" "" "20"
"00364693" "" "" "" "1" "" "01695" "{PMID:Burke 2011:21873672}" "" "F" "?" "United States" "" "0" "" "" "" "21"
"00364694" "" "" "" "1" "" "01695" "{PMID:Burke 2011:21873672}" "" "F" "?" "United States" "" "0" "" "" "" "22"
"00364695" "" "" "" "1" "" "01695" "{PMID:Burke 2011:21873672}" "" "F" "?" "United States" "" "0" "" "" "" "23"
"00364696" "" "" "" "1" "" "01695" "{PMID:Burke 2011:21873672}" "" "M" "?" "United States" "" "0" "" "" "" "24"
"00364697" "" "" "" "1" "" "01695" "{PMID:Burke 2011:21873672}" "" "M" "?" "United States" "" "0" "" "" "" "25"
"00364698" "" "" "" "1" "" "01695" "{PMID:Cukras 2012:21987580}" "" "F" "?" "United States" "" "0" "" "" "" "2"
"00364699" "" "" "" "1" "" "01695" "{PMID:Cukras 2012:21987580}" "" "F" "?" "United States" "" "0" "" "" "" "3"
"00364700" "" "" "" "1" "" "01695" "{PMID:Park 2012:22060670}" "" "F" "?" "United States" "" "0" "" "" "" "Case 1"
"00364701" "" "" "" "1" "" "01695" "{PMID:Park 2012:22060670}" "" "M" "?" "United States" "" "0" "" "" "" "Case 2"
"00364702" "" "" "" "1" "" "01695" "{PMID:Siemiatkowska 2011:22128245}" "Sibling of W09–0042 IV:3" "F" "yes" "Indonesia" "" "0" "" "" "Indonesia" "W09–0042 IV:2"
"00364703" "" "" "" "1" "" "01695" "{PMID:Siemiatkowska 2011:22128245}" "Sibling of W09–0042 IV:2" "M" "yes" "Indonesia" "" "0" "" "" "Indonesia" "W09–0042 IV:3"
"00364704" "" "" "" "1" "" "01695" "{PMID:Cideciyan 2012:22247458}{PMID:Cideciyan 2015:26377081}" "Sibling of P18" "M" "?" "United States" "" "0" "" "" "" "P1‡;71"
"00364705" "" "" "" "1" "" "01695" "{PMID:Cideciyan 2012:22247458}{PMID:Huang 2014:24550365}" "Sibling of P17" "F" "?" "United States" "" "0" "" "" "" "P2‡; P9‡"
"00364706" "" "" "" "1" "" "01695" "{PMID:Cideciyan 2012:22247458}" "" "M" "?" "United States" "" "0" "" "" "" "P3"
"00364707" "" "" "" "1" "" "01695" "{PMID:Cideciyan 2012:22247458}" "" "F" "?" "United States" "" "0" "" "" "" "P4"
"00364708" "" "" "" "1" "" "01695" "{PMID:Cideciyan 2012:22247458}" "" "M" "?" "United States" "" "0" "" "" "" "P5"
"00364709" "" "" "" "1" "" "01695" "{PMID:Cideciyan 2012:22247458}" "" "M" "?" "United States" "" "0" "" "" "" "P8"
"00364710" "" "" "" "1" "" "01695" "{PMID:Cideciyan 2012:22247458}" "" "F" "?" "United States" "" "0" "" "" "" "P17‡"
"00364711" "" "" "" "1" "" "01695" "{PMID:Cideciyan 2012:22247458}{PMID:Cideciyan 2015:26377081}" "Sibling of P1" "M" "?" "United States" "" "0" "" "" "" "P18‡; 72"
"00364712" "" "" "" "1" "" "01695" "{PMID:Cideciyan 2012:22247458}" "" "M" "?" "United States" "" "0" "" "" "" "P20"
"00364713" "" "" "" "1" "" "01695" "{PMID:Cideciyan 2012:22247458}" "" "M" "?" "United States" "" "0" "" "" "" "P22"
"00364714" "" "" "" "1" "" "01695" "{PMID:Cideciyan 2012:22247458}" "" "F" "?" "United States" "" "0" "" "" "" "P23"
"00364715" "" "" "" "1" "" "01695" "{PMID:Cideciyan 2012:22247458}" "" "M" "?" "United States" "" "0" "" "" "" "P25"
"00364716" "" "" "" "1" "" "01695" "{PMID:Cideciyan 2012:22247458}" "" "M" "?" "United States" "" "0" "" "" "" "P27"
"00364717" "" "" "" "1" "" "01695" "{PMID:Cideciyan 2012:22247458}" "" "F" "?" "United States" "" "0" "" "" "" "P29"
"00364718" "" "" "" "1" "" "01695" "{PMID:Thiadens 2012:22264887}" "" "" "?" "" "" "0" "" "" "" "Unknown 291"
"00364719" "" "" "" "1" "" "01695" "{PMID:Thiadens 2012:22264887}" "CNGB3: c.1148delC (p.T383IfsX13) was also identified in this patient" "" "?" "" "" "0" "" "" "" "Unknown 292"
"00364720" "" "" "" "1" "" "01695" "{PMID:Thiadens 2012:22264887}" "" "" "?" "" "" "0" "" "" "" "Unknown 293"
"00364721" "" "" "" "1" "" "01695" "{PMID:Thiadens 2012:22264887}" "" "" "?" "" "" "0" "" "" "" "Unknown 294"
"00364722" "" "" "" "1" "" "01695" "{PMID:Thiadens 2012:22264887}" "" "" "?" "" "" "0" "" "" "" "Unknown 295"
"00364723" "" "" "" "1" "" "01695" "{PMID:Thiadens 2012:22264887}" "" "" "?" "" "" "0" "" "" "" "Unknown 296"
"00364724" "" "" "" "1" "" "01695" "{PMID:Thiadens 2012:22264887}" "" "" "?" "" "" "0" "" "" "" "Unknown 297"
"00364725" "" "" "" "1" "" "01695" "{PMID:Thiadens 2012:22264887}" "" "" "?" "" "" "0" "" "" "" "Unknown 298"
"00364726" "" "" "" "1" "" "01695" "{PMID:Thiadens 2012:22264887}" "CNGB3: c.1148delC (p.T383IfsX13) was also identified in this patient" "" "?" "" "" "0" "" "" "" "Unknown 299"
"00364727" "" "" "" "1" "" "01695" "{PMID:Thiadens 2012:22264887}" "" "" "?" "" "" "0" "" "" "" "Unknown 300"
"00364728" "" "" "" "1" "" "01695" "{PMID:Thiadens 2012:22264887}" "" "" "?" "" "" "0" "" "" "" "Unknown 301"
"00364729" "" "" "" "1" "" "01695" "{PMID:Thiadens 2012:22264887}" "" "" "?" "" "" "0" "" "" "" "Unknown 302"
"00364730" "" "" "" "1" "" "01695" "{PMID:Thiadens 2012:22264887}" "" "" "?" "" "" "0" "" "" "" "Unknown 303"
"00364731" "" "" "" "1" "" "01695" "{PMID:Thiadens 2012:22264887}" "" "" "?" "" "" "0" "" "" "" "Unknown 304"
"00364732" "" "" "" "1" "" "01695" "{PMID:Thiadens 2012:22264887}" "" "" "?" "" "" "0" "" "" "" "Unknown 305"
"00364733" "" "" "" "1" "" "01695" "{PMID:Thiadens 2012:22264887}" "" "" "?" "" "" "0" "" "" "" "Unknown 306"
"00364734" "" "" "" "1" "" "01695" "{PMID:Thiadens 2012:22264887}" "" "" "?" "" "" "0" "" "" "" "Unknown 307"
"00364735" "" "" "" "1" "" "01695" "{PMID:Thiadens 2012:22264887}" "" "" "?" "" "" "0" "" "" "" "Unknown 308"
"00364736" "" "" "" "1" "" "01695" "{PMID:Thiadens 2012:22264887}" "" "" "?" "" "" "0" "" "" "" "Unknown 309"
"00364737" "" "" "" "1" "" "01695" "{PMID:Thiadens 2012:22264887}" "" "" "?" "" "" "0" "" "" "" "Unknown 310"
"00364738" "" "" "" "1" "" "01695" "{PMID:Thiadens 2012:22264887}" "" "" "?" "" "" "0" "" "" "" "Unknown 311"
"00364739" "" "" "" "1" "" "01695" "{PMID:Thiadens 2012:22264887}" "" "" "?" "" "" "0" "" "" "" "Unknown 312"
"00364740" "" "" "" "1" "" "01695" "{PMID:Leng 2012:22466470}" "" "F" "?" "Germany" "" "0" "" "" "" "Case 4"
"00364741" "" "" "" "1" "" "01695" "{PMID:Giani 2012:22589445}" "" "F" "?" "Italy" "" "0" "" "" "" "Unknown 313"
"00364742" "" "" "" "1" "" "01695" "{PMID:Giani 2012:22589445}" "" "F" "?" "Italy" "" "0" "" "" "" "Unknown 314"
"00364743" "" "" "" "1" "" "01695" "{PMID:Burke 2013:22871184}" "" "F" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "Unknown 316"
"00364744" "" "" "" "1" "" "01695" "{PMID:Yi 2012:22948568}" "" "M" "?" "China" "" "0" "" "" "" "QT223"
"00364745" "" "" "" "1" "" "01695" "{PMID:Burton 2013:23329737}" "" "M" "yes" "United Kingdom (Great Britain)" "" "0" "" "" "Asia" "Unknown 317"
"00364746" "" "" "" "1" "" "01695" "{PMID:Burton 2013:23329737}" "" "M" "yes" "United Kingdom (Great Britain)" "" "0" "" "" "Asia" "Unknown 317"
"00364747" "" "" "" "1" "" "01695" "{PMID:Schorderet 2013:23484092}" "" "" "?" "Switzerland" "" "0" "" "" "" "9"
"00364748" "" "" "" "1" "" "01695" "{PMID:Utz 2013:24011517}" "" "" "?" "United States" "" "0" "" "" "African American" "1"
"00364749" "" "" "" "1" "" "01695" "{PMID:Utz 2013:24011517}" "" "" "?" "United States" "" "0" "" "" "African American" "2"
"00364750" "" "" "" "1" "" "01695" "{PMID:Utz 2013:24011517}" "" "" "?" "United States" "" "0" "" "" "African American" "3"
"00364751" "" "" "" "1" "" "01695" "{PMID:Utz 2013:24011517}" "" "" "?" "United States" "" "0" "" "" "African American" "4"
"00364752" "" "" "" "1" "" "01695" "{PMID:Utz 2013:24011517}" "" "" "?" "United States" "" "0" "" "" "African American" "5"
"00364753" "" "" "" "1" "" "01695" "{PMID:Utz 2013:24011517}" "" "" "?" "United States" "" "0" "" "" "African American" "6"
"00364754" "" "" "" "1" "" "01695" "{PMID:Utz 2013:24011517}" "" "" "?" "United States" "" "0" "" "" "African American" "7"
"00364755" "" "" "" "1" "" "01695" "{PMID:Utz 2013:24011517}" "" "" "?" "United States" "" "0" "" "" "African American" "8"
"00364756" "" "" "" "1" "" "01695" "{PMID:Utz 2013:24011517}" "" "" "?" "United States" "" "0" "" "" "African American" "9"
"00364757" "" "" "" "1" "" "01695" "{PMID:Utz 2013:24011517}" "" "" "?" "United States" "" "0" "" "" "African American" "10"
"00364758" "" "" "" "1" "" "01695" "{PMID:Fujinami 2014:24020726}" "" "F" "yes" "" "" "0" "" "" "" "Case 1"
"00364759" "" "" "" "1" "" "01695" "{PMID:Fujinami 2014:24020726}" "" "F" "?" "" "" "0" "" "" "" "Case 3"
"00364760" "" "" "" "1" "" "01695" "{PMID:Duncker 2013:24071957}" "" "F" "no" "United States" "" "0" "" "" "white" "P4"
"00364761" "" "" "" "1" "" "01695" "{PMID:Duncker 2013:24071957}" "" "F" "no" "United States" "" "0" "" "" "white" "P5"
"00364762" "" "" "" "1" "" "01695" "{PMID:Duncker 2013:24071957}" "" "M" "no" "United States" "" "0" "" "" "white" "P6"
"00364763" "" "" "" "1" "" "01695" "{PMID:Duncker 2013:24071957}" "" "F" "no" "United States" "" "0" "" "" "white" "P7"
"00364764" "" "" "" "1" "" "01695" "{PMID:Duncker 2013:24071957}" "" "M" "no" "United States" "" "0" "" "" "white" "P8"
"00364765" "" "" "" "1" "" "01695" "{PMID:Duncker 2013:24071957}" "" "M" "no" "United States" "" "0" "" "" "white" "P9"
"00364766" "" "" "" "1" "" "01695" "{PMID:Duncker 2013:24071957}" "" "F" "no" "United States" "" "0" "" "" "white" "P10"
"00364767" "" "" "" "1" "" "01695" "{PMID:Duncker 2013:24071957}{PMID:Lee 2017:28327576}" "" "M" "no" "United States" "" "0" "" "" "India" "P11; 90145"
"00364768" "" "" "" "1" "" "01695" "{PMID:Duncker 2013:24071957}" "" "M" "no" "United States" "" "0" "" "" "black" "P12"
"00364769" "" "" "" "1" "" "01695" "{PMID:Duncker 2013:24071957}" "" "F" "no" "United States" "" "0" "" "" "black" "P13"
"00364770" "" "" "" "1" "" "01695" "{PMID:Duncker 2013:24071957}" "" "M" "no" "United States" "" "0" "" "" "white" "P14"
"00364771" "" "" "" "1" "" "01695" "{PMID:Duncker 2013:24071957}" "" "M" "no" "United States" "" "0" "" "" "white" "P15"
"00364772" "" "" "" "1" "" "01695" "{PMID:Chouchene 2013:24342785}" "" "F" "yes" "Tunisia" "" "0" "" "" "Tunisia" "F1/V:2"
"00364773" "" "" "" "1" "" "01695" "{PMID:Chouchene 2013:24342785}" "" "M" "yes" "Tunisia" "" "0" "" "" "Tunisia" "F7/IV:1"
"00364774" "" "" "" "1" "" "01695" "{PMID:Huynh 2014:24397708}" "Mutations were also found in GRM6. The patient also presented with Congenital Stationary Night Blindness." "F" "?" "United States" "" "0" "" "" "African American" "Unknown 319"
"00364775" "" "" "" "1" "" "01695" "{PMID:Verdina 2012:24409374}" "" "F" "?" "" "" "0" "" "" "" "ERA"
"00364776" "" "" "" "1" "" "01695" "{PMID:Verdina 2012:24409374}" "" "F" "?" "" "" "0" "" "" "" "MC"
"00364777" "" "" "" "1" "" "01695" "{PMID:Verdina 2012:24409374}" "" "F" "?" "" "" "0" "" "" "" "SK"
"00364778" "" "" "" "1" "" "01695" "{PMID:Verdina 2012:24409374}" "" "M" "?" "" "" "0" "" "" "" "RE"
"00364779" "" "" "" "1" "" "01695" "{PMID:Verdina 2012:24409374}" "" "F" "?" "" "" "0" "" "" "" "WR"
"00364780" "" "" "" "1" "" "01695" "{PMID:Verdina 2012:24409374}" "" "M" "?" "" "" "0" "" "" "" "FA"
"00364781" "" "" "" "1" "" "01695" "{PMID:Verdina 2012:24409374}" "" "M" "?" "" "" "0" "" "" "" "GD"
"00364782" "" "" "" "1" "" "01695" "{PMID:Verdina 2012:24409374}" "" "M" "?" "" "" "0" "" "" "" "GPA"
"00364783" "" "" "" "1" "" "01695" "{PMID:Verdina 2012:24409374}" "" "F" "?" "" "" "0" "" "" "" "MS"
"00364784" "" "" "" "1" "" "01695" "{PMID:Verdina 2012:24409374}" "" "F" "?" "" "" "0" "" "" "" "NF"
"00364785" "" "" "" "1" "" "01695" "{PMID:Verdina 2012:24409374}" "" "F" "?" "" "" "0" "" "" "" "OA"
"00364786" "" "" "" "1" "" "01695" "{PMID:Verdina 2012:24409374}" "" "M" "?" "" "" "0" "" "" "" "PE"
"00364787" "" "" "" "1" "" "01695" "{PMID:Verdina 2012:24409374}" "" "F" "?" "" "" "0" "" "" "" "SG"
"00364788" "" "" "" "1" "" "01695" "{PMID:Verdina 2012:24409374}" "" "M" "?" "" "" "0" "" "" "" "TM"
"00364789" "" "" "" "1" "" "01695" "{PMID:Verdina 2012:24409374}" "" "F" "?" "" "" "0" "" "" "" "TS"
"00364790" "" "" "" "1" "" "01695" "{PMID:Singh 2014:24428930}" "" "F" "?" "" "" "0" "" "" "" "Patient 1"
"00364791" "" "" "" "1" "" "01695" "{PMID:Singh 2014:24428930}" "" "F" "?" "" "" "0" "" "" "" "Patient 2"
"00364792" "" "" "" "1" "" "01695" "{PMID:Ortube 2014:24444108}" "" "F" "yes" "United States" "" "0" "" "" "hispanic" "Unknown 320"
"00364793" "" "" "" "1" "" "01695" "{PMID:Serapinas 2013:24509150}" "" "F" "?" "Lithuania" "" "0" "" "" "" "Unknown 321"
"00364794" "" "" "" "1" "" "01695" "{PMID:Huang 2014:24550365}" "" "M" "?" "United States" "" "0" "" "" "" "P1"
"00364795" "" "" "" "1" "" "01695" "{PMID:Huang 2014:24550365}" "" "F" "?" "United States" "" "0" "" "" "" "P8"
"00364796" "" "" "" "1" "" "01695" "{PMID:Huang 2014:24550365}" "" "M" "?" "United States" "" "0" "" "" "" "P11"
"00364797" "" "" "" "1" "" "01695" "{PMID:Huang 2014:24550365}{PMID:Cideciyan 2015:26377081}" "sibling of P15" "M" "?" "" "" "0" "" "" "" "P12‡; 86"
"00364798" "" "" "" "1" "" "01695" "{PMID:Huang 2014:24550365}{PMID:Cideciyan 2015:26377081}" "sibling of P12" "M" "?" "" "" "0" "" "" "" "P15‡; 87"
"00364799" "" "" "" "1" "" "01695" "{PMID:Huang 2014:24550365}" "" "F" "?" "United States" "" "0" "" "" "" "P18"
"00364800" "" "" "" "1" "" "01695" "{PMID:Huang 2014:24550365}" "sibling of P25 from Cideciyan et al." "F" "?" "United States" "" "0" "" "" "" "P31‡"
"00364801" "" "" "" "1" "" "01695" "{PMID:Huang 2014:24550365}" "" "F" "?" "United States" "" "0" "" "" "" "P34"
"00364802" "" "" "" "1" "" "01695" "{PMID:Huang 2014:24550365}" "" "F" "?" "United States" "" "0" "" "" "" "P45"
"00364803" "" "" "" "1" "" "01695" "{PMID:Coppieters 2014:24625443}" "see paper" "F" "yes" "Turkey" "" "0" "" "" "Turkey" "Fam8PatII1"
"00364804" "" "" "" "1" "" "01695" "{PMID:Jonsson 2014:24664696}" "granduncle of case VI:10" "M" "no" "Sweden" "" "0" "" "" "Sweden" "V:4"
"00364805" "" "" "" "1" "" "01695" "{PMID:Jonsson 2014:24664696}" "grandniece of case V:4" "F" "no" "Sweden" "" "0" "" "" "Sweden" "VI:10"
"00364806" "" "" "" "1" "" "01695" "{PMID:Bertelsen 2014:24713488}" "" "M" "?" "Denmark" "" "0" "" "" "" "D513"
"00364807" "" "" "" "1" "" "01695" "{PMID:Bertelsen 2014:24713488}" "" "M" "?" "Denmark" "" "0" "" "" "" "D514"
"00364808" "" "" "" "1" "" "01695" "{PMID:Bertelsen 2014:24713488}" "" "M" "?" "Denmark" "" "0" "" "" "" "D516"
"00364809" "" "" "" "1" "" "01695" "{PMID:Bertelsen 2014:24713488}" "" "M" "?" "Denmark" "" "0" "" "" "" "D517"
"00364810" "" "" "" "1" "" "01695" "{PMID:Bertelsen 2014:24713488}" "" "M" "?" "Denmark" "" "0" "" "" "" "D137"
"00364811" "" "" "" "1" "" "01695" "{PMID:Bertelsen 2014:24713488}" "" "M" "?" "Denmark" "" "0" "" "" "" "D801"
"00364812" "" "" "" "1" "" "01695" "{PMID:Bertelsen 2014:24713488}" "" "M" "?" "Denmark" "" "0" "" "" "" "D109"
"00364813" "" "" "" "1" "" "01695" "{PMID:Bertelsen 2014:24713488}" "" "F" "?" "Denmark" "" "0" "" "" "" "D040"
"00364814" "" "" "" "1" "" "01695" "{PMID:Bertelsen 2014:24713488}" "" "F" "?" "Denmark" "" "0" "" "" "" "D129"
"00364815" "" "" "" "1" "" "01695" "{PMID:Bertelsen 2014:24713488}" "" "M" "?" "Denmark" "" "0" "" "" "" "D115"
"00364816" "" "" "" "1" "" "01695" "{PMID:Bertelsen 2014:24713488}" "" "F" "?" "Denmark" "" "0" "" "" "" "D023"
"00364817" "" "" "" "1" "" "01695" "{PMID:Bertelsen 2014:24713488}" "" "F" "?" "Denmark" "" "0" "" "" "" "D001"
"00364818" "" "" "" "1" "" "01695" "{PMID:Bertelsen 2014:24713488}" "" "F" "?" "Denmark" "" "0" "" "" "" "D162"
"00364819" "" "" "" "1" "" "01695" "{PMID:Bertelsen 2014:24713488}" "" "F" "?" "Denmark" "" "0" "" "" "" "D107"
"00364820" "" "" "" "1" "" "01695" "{PMID:Bertelsen 2014:24713488}" "" "F" "?" "Denmark" "" "0" "" "" "" "D070"
"00364821" "" "" "" "1" "" "01695" "{PMID:Bertelsen 2014:24713488}" "" "M" "?" "Denmark" "" "0" "" "" "" "D116"
"00364822" "" "" "" "1" "" "01695" "{PMID:Sisk 2014:24743636}" "" "F" "?" "United States" "" "0" "" "" "adopted" "1"
"00364823" "" "" "" "1" "" "01695" "{PMID:Sisk 2014:24743636}" "" "M" "?" "United States" "" "0" "" "" "" "2"
"00364824" "" "" "" "1" "" "01695" "{PMID:Sisk 2014:24743636}" "sibling of patient 4" "F" "?" "United States" "" "0" "" "" "" "3"
"00364825" "" "" "" "1" "" "01695" "{PMID:Sisk 2014:24743636}" "sibling of patient 3" "F" "?" "United States" "" "0" "" "" "" "4"
"00364826" "" "" "" "1" "" "01695" "{PMID:Sisk 2014:24743636}" "sibling of patient 6" "F" "?" "United States" "" "0" "" "" "" "5"
"00364827" "" "" "" "1" "" "01695" "{PMID:Sisk 2014:24743636}" "sibling of patient 5" "F" "?" "United States" "" "0" "" "" "" "6"
"00364828" "" "" "" "1" "" "01695" "{PMID:Sisk 2014:24743636}" "" "M" "?" "United States" "" "0" "" "" "" "7"
"00364829" "" "" "" "1" "" "01695" "{PMID:Zhang 2014:24763286}" "Sibling of AIII:2" "M" "?" "China" "" "0" "" "" "adopted" "AIII:1"
"00364830" "" "" "" "1" "" "01695" "{PMID:Zhang 2014:24763286}" "Sibling of AIII:1" "M" "?" "China" "" "0" "" "" "adopted" "AIII:2"
"00364831" "" "" "" "1" "" "01695" "{PMID:Zhang 2014:24763286}" "Sibling of BIII:2" "M" "?" "China" "" "0" "" "" "adopted" "BII:1"
"00364832" "" "" "" "1" "" "01695" "{PMID:Zhang 2014:24763286}" "Sibling of BIII:1" "F" "?" "China" "" "0" "" "" "adopted" "BII:2"
"00364833" "" "" "" "1" "" "01695" "{PMID:Zhang 2014:24763286}" "" "M" "?" "China" "" "0" "" "" "adopted" "CIII:1"
"00364834" "" "" "" "1" "" "01695" "{PMID:Zhang 2014:24763286}" "" "F" "?" "China" "" "0" "" "" "adopted" "DII:1"
"00364835" "" "" "00364837" "1" "" "01695" "{PMID:Watson 2014:25133751}" "Father of cases 2845 and 2843" "M" "yes" "United Kingdom (Great Britain)" "" "0" "" "" "adopted" "MA2 2844"
"00364836" "" "" "00364837" "1" "" "01695" "{PMID:Watson 2014:25133751}" "Family member (son and brother) of cases 2844 and 2843" "M" "no" "United Kingdom (Great Britain)" "" "0" "" "" "adopted" "MA2 2845"
"00364837" "" "" "" "3" "" "01695" "{PMID:Watson 2014:25133751}" "Family member (son and brother) of cases 2844 and 2845" "M" "no" "United Kingdom (Great Britain)" "" "0" "" "" "adopted" "MA2 2843"
"00364838" "" "" "" "3" "" "01695" "{PMID:Watson 2014:25133751}" "Sibling of 1482 and 1484" "M" "no" "United Kingdom (Great Britain)" "" "0" "" "" "adopted" "MA18 1480"
"00364839" "" "" "00364838" "1" "" "01695" "{PMID:Watson 2014:25133751}" "Sibling of 1480 and 1484" "F" "no" "United Kingdom (Great Britain)" "" "0" "" "" "adopted" "MA18 1482"
"00364840" "" "" "00364838" "1" "" "01695" "{PMID:Watson 2014:25133751}" "Sibling of 1480 and 1482" "F" "no" "United Kingdom (Great Britain)" "" "0" "" "" "adopted" "MA18 1484"
"00364841" "" "" "" "1" "" "01695" "{PMID:Lee 2014:25139735}" "possibly sibling of P5 possibly reported before by Zernant and/or Burke" "" "?" "United States" "" "0" "" "" "white" "P4"
"00364842" "" "" "" "1" "" "01695" "{PMID:Lee 2014:25139735}" "possibly sibling of P4" "" "?" "United States" "" "0" "" "" "white" "P5"
"00364843" "" "" "" "1" "" "01695" "{PMID:Lee 2014:25139735}" "possibly sibling of P7 possibly reported before by Zernant and/or Burke" "" "?" "United States" "" "0" "" "" "white" "P6"
"00364844" "" "" "" "1" "" "01695" "{PMID:Lee 2014:25139735}" "possibly sibling of P6 possibly reported before by Zernant and/or Burke" "" "?" "United States" "" "0" "" "" "white" "P7"
"00364845" "" "" "" "1" "" "01695" "{PMID:Lee 2014:25139735}" "sibling was likely reported by Burke et al., 2014 too" "" "?" "United States" "" "0" "" "" "white" "P13"
"00364846" "" "" "" "1" "" "01695" "{PMID:Lee 2014:25139735}" "possibly reported before by Zernant and/or Burke" "" "?" "United States" "" "0" "" "" "white" "P16"
"00364847" "" "" "" "1" "" "01695" "{PMID:Lee 2014:25139735}" "possibly reported before by Zernant and/or Burke" "" "?" "United States" "" "0" "" "" "white" "P18"
"00364848" "" "" "" "1" "" "01695" "{PMID:Lee 2014:25139735}" "possibly reported before by Zernant and/or Burke" "" "?" "United States" "" "0" "" "" "white" "P19"
"00364849" "" "" "" "1" "" "01695" "{PMID:Lee 2014:25139735}" "possibly reported before by Zernant and/or Burke" "" "?" "United States" "" "0" "" "" "African American" "P20"
"00364850" "" "" "" "1" "" "01695" "{PMID:Lee 2014:25139735}" "possibly reported before by Zernant and/or Burke" "" "?" "United States" "" "0" "" "" "white" "P21"
"00364851" "" "" "" "1" "" "01695" "{PMID:Lee 2014:25139735}" "possibly reported before by Zernant and/or Burke" "" "?" "United States" "" "0" "" "" "India" "P23"
"00364852" "" "" "" "1" "" "01695" "{PMID:Lee 2014:25139735}" "possibly reported before by Zernant and/or Burke" "" "?" "United States" "" "0" "" "" "Middle East" "P25"
"00364853" "" "" "" "1" "" "01695" "{PMID:Bonilha 2014:25265374}{PMID:Edwards 2020:32692840}" "" "F" "?" "United States" "" "0" "" "" "" "unknown 322 / Donor 1"
"00364854" "" "" "" "1" "" "01695" "{PMID:Fujinami 2015:25312043}" "" "" "yes" "United Kingdom (Great Britain)" "" "0" "" "" "" "2*"
"00364855" "" "" "" "1" "" "01695" "{PMID:Fujinami 2015:25312043}" "" "" "yes" "United Kingdom (Great Britain)" "" "0" "" "" "" "3*"
"00364856" "" "" "" "1" "" "01695" "{PMID:Fujinami 2015:25312043}" "" "" "yes" "United Kingdom (Great Britain)" "" "0" "" "" "" "5*"
"00364857" "" "" "" "1" "" "01695" "{PMID:Fujinami 2015:25312043}" "" "" "no" "United Kingdom (Great Britain)" "" "0" "" "" "" "6"
"00364858" "" "" "" "1" "" "01695" "{PMID:Fujinami 2015:25312043}" "" "" "no" "United Kingdom (Great Britain)" "" "0" "" "" "" "7"
"00364859" "" "" "" "1" "" "01695" "{PMID:Fujinami 2015:25312043}" "" "" "yes" "United Kingdom (Great Britain)" "" "0" "" "" "" "8*"
"00364860" "" "" "" "1" "" "01695" "{PMID:Fujinami 2015:25312043}" "" "" "no" "United Kingdom (Great Britain)" "" "0" "" "" "" "9"
"00364861" "" "" "" "1" "" "01695" "{PMID:Fujinami 2015:25312043}" "" "" "no" "United Kingdom (Great Britain)" "" "0" "" "" "" "10"
"00364862" "" "" "" "1" "" "01695" "{PMID:Fujinami 2015:25312043}" "" "" "no" "United Kingdom (Great Britain)" "" "0" "" "" "" "11"
"00364863" "" "" "" "1" "" "01695" "{PMID:Fujinami 2015:25312043}" "" "" "no" "United Kingdom (Great Britain)" "" "0" "" "" "" "12"
"00364864" "" "" "" "1" "" "01695" "{PMID:Fujinami 2015:25312043}" "" "" "no" "United Kingdom (Great Britain)" "" "0" "" "" "" "13"
"00364865" "" "" "" "1" "" "01695" "{PMID:Fujinami 2015:25312043}" "" "" "no" "United Kingdom (Great Britain)" "" "0" "" "" "" "14"
"00364866" "" "" "" "1" "" "01695" "{PMID:Fujinami 2015:25312043}" "" "" "no" "United Kingdom (Great Britain)" "" "0" "" "" "" "15"
"00364867" "" "" "" "1" "" "01695" "{PMID:Fujinami 2015:25312043}" "" "" "no" "United Kingdom (Great Britain)" "" "0" "" "" "" "16"
"00364868" "" "" "" "1" "" "01695" "{PMID:Fujinami 2015:25312043}" "previously described by Fujinami et al., 2013" "" "no" "United Kingdom (Great Britain)" "" "0" "" "" "" "17*†"
"00364869" "" "" "" "1" "" "01695" "{PMID:Fujinami 2015:25312043}" "previously described by Fujinami et al., 2013" "" "no" "United Kingdom (Great Britain)" "" "0" "" "" "" "18†"
"00364870" "" "" "" "1" "" "01695" "{PMID:Fujinami 2015:25312043}" "" "" "no" "United Kingdom (Great Britain)" "" "0" "" "" "" "20"
"00364871" "" "" "" "1" "" "01695" "{PMID:Fujinami 2015:25312043}" "" "" "no" "United Kingdom (Great Britain)" "" "0" "" "" "" "21"
"00364872" "" "" "" "1" "" "01695" "{PMID:Fujinami 2015:25312043}" "" "" "no" "United Kingdom (Great Britain)" "" "0" "" "" "" "22"
"00364873" "" "" "" "1" "" "01695" "{PMID:Fujinami 2015:25312043}" "" "" "no" "United Kingdom (Great Britain)" "" "0" "" "" "" "24"
"00364874" "" "" "" "1" "" "01695" "{PMID:Fujinami 2015:25312043}" "" "" "no" "United Kingdom (Great Britain)" "" "0" "" "" "" "25"
"00364875" "" "" "" "1" "" "01695" "{PMID:Fujinami 2015:25312043}" "" "" "no" "United Kingdom (Great Britain)" "" "0" "" "" "" "26"
"00364876" "" "" "" "1" "" "01695" "{PMID:Fujinami 2015:25312043}" "" "" "no" "United Kingdom (Great Britain)" "" "0" "" "" "" "27"
"00364877" "" "" "" "1" "" "01695" "{PMID:Fujinami 2015:25312043}" "" "" "yes" "United Kingdom (Great Britain)" "" "0" "" "" "" "28*"
"00364878" "" "" "" "1" "" "01695" "{PMID:Fujinami 2015:25312043}" "" "" "no" "United Kingdom (Great Britain)" "" "0" "" "" "" "29"
"00364879" "" "" "" "1" "" "01695" "{PMID:Fujinami 2015:25312043}" "" "" "no" "United Kingdom (Great Britain)" "" "0" "" "" "" "30"
"00364880" "" "" "" "1" "" "01695" "{PMID:Fujinami 2015:25312043}" "" "" "no" "United Kingdom (Great Britain)" "" "0" "" "" "" "31"
"00364881" "" "" "" "1" "" "01695" "{PMID:Fujinami 2015:25312043}" "" "" "no" "United Kingdom (Great Britain)" "" "0" "" "" "" "32"
"00364882" "" "" "" "1" "" "01695" "{PMID:Fujinami 2015:25312043}" "" "" "no" "United Kingdom (Great Britain)" "" "0" "" "" "" "33"
"00364883" "" "" "" "1" "" "01695" "{PMID:Fujinami 2015:25312043}" "" "" "no" "United Kingdom (Great Britain)" "" "0" "" "" "" "34"
"00364884" "" "" "" "1" "" "01695" "{PMID:Fujinami 2015:25312043}" "" "" "no" "United Kingdom (Great Britain)" "" "0" "" "" "" "35"
"00364885" "" "" "" "1" "" "01695" "{PMID:Fujinami 2015:25312043}" "" "" "no" "United Kingdom (Great Britain)" "" "0" "" "" "" "36"
"00364886" "" "" "" "1" "" "01695" "{PMID:Fujinami 2015:25312043}" "" "" "no" "United Kingdom (Great Britain)" "" "0" "" "" "" "37"
"00364887" "" "" "" "1" "" "01695" "{PMID:Fujinami 2015:25312043}" "" "" "no" "United Kingdom (Great Britain)" "" "0" "" "" "" "38"
"00364888" "" "" "" "1" "" "01695" "{PMID:Fujinami 2015:25312043}" "" "" "no" "United Kingdom (Great Britain)" "" "0" "" "" "" "39"
"00364889" "" "" "" "1" "" "01695" "{PMID:Fujinami 2015:25312043}" "" "" "no" "United Kingdom (Great Britain)" "" "0" "" "" "" "40"
"00364890" "" "" "" "1" "" "01695" "{PMID:Fujinami 2015:25312043}" "" "" "no" "United Kingdom (Great Britain)" "" "0" "" "" "" "41"
"00364891" "" "" "" "1" "" "01695" "{PMID:Fujinami 2015:25312043}" "" "" "no" "United Kingdom (Great Britain)" "" "0" "" "" "" "42"
"00364892" "" "" "" "1" "" "01695" "{PMID:Duncker 2014:25342616}" "" "F" "?" "" "" "0" "" "" "white" "1"
"00364893" "" "" "" "1" "" "01695" "{PMID:Duncker 2014:25342616}" "likely sibling of patient 3" "M" "?" "" "" "0" "" "" "white" "2"
"00364894" "" "" "" "1" "" "01695" "{PMID:Duncker 2014:25342616}" "likely sibling of patient 2" "M" "?" "" "" "0" "" "" "white" "3"
"00364895" "" "" "" "1" "" "01695" "{PMID:Duncker 2014:25342616}" "" "M" "?" "" "" "0" "" "" "India" "4"
"00364896" "" "" "" "1" "" "01695" "{PMID:Duncker 2014:25342616}" "" "M" "?" "" "" "0" "" "" "white" "5"
"00364897" "" "" "" "1" "" "01695" "{PMID:Duncker 2014:25342616}" "" "M" "?" "" "" "0" "" "" "black" "6"
"00364898" "" "" "" "1" "" "01695" "{PMID:Duncker 2014:25342616}" "" "F" "?" "" "" "0" "" "" "white" "7"
"00364899" "" "" "" "1" "" "01695" "{PMID:Duncker 2014:25342616}" "" "M" "?" "" "" "0" "" "" "white" "8"
"00364900" "" "" "" "1" "" "01695" "{PMID:Duncker 2014:25342616}{PMID:Chen 2019:31015497}" "" "M" "?" "" "" "0" "" "" "white" "11; 7"
"00364901" "" "" "" "1" "" "01695" "{PMID:Duncker 2014:25342616}" "" "M" "?" "" "" "0" "" "" "white" "12"
"00364902" "" "" "" "1" "" "01695" "{PMID:Duncker 2014:25342616}" "" "M" "?" "" "" "0" "" "" "white" "13"
"00364903" "" "" "" "1" "" "01695" "{PMID:Duncker 2014:25342616}" "" "F" "?" "" "" "0" "" "" "white" "14"
"00364904" "" "" "" "1" "" "01695" "{PMID:Duncker 2014:25342616}" "" "M" "?" "" "" "0" "" "" "white" "15"
"00364905" "" "" "" "1" "" "01695" "{PMID:Duncker 2014:25342616}" "" "M" "?" "" "" "0" "" "" "Arab" "16"
"00364906" "" "" "" "1" "" "01695" "{PMID:Duncker 2014:25342616}" "" "M" "?" "" "" "0" "" "" "white" "17"
"00364907" "" "" "" "1" "" "01695" "{PMID:Duncker 2014:25342616}" "" "F" "?" "" "" "0" "" "" "white" "18"
"00364908" "" "" "" "1" "" "01695" "{PMID:Duncker 2014:25342616}" "" "M" "?" "" "" "0" "" "" "white" "19"
"00364909" "" "" "" "1" "" "01695" "{PMID:Duncker 2014:25342616}" "" "F" "?" "" "" "0" "" "" "white" "20"
"00364910" "" "" "" "1" "" "01695" "{PMID:Duncker 2014:25342616}" "" "F" "?" "" "" "0" "" "" "white" "21"
"00364911" "" "" "" "1" "" "01695" "{PMID:Duncker 2014:25342616}" "" "F" "?" "" "" "0" "" "" "white" "22"
"00364912" "" "" "" "1" "" "01695" "{PMID:Duncker 2014:25342616}" "" "M" "?" "" "" "0" "" "" "white" "23"
"00364913" "" "" "" "1" "" "01695" "{PMID:Duncker 2014:25342616}" "" "F" "?" "" "" "0" "" "" "white" "24"
"00364914" "" "" "" "1" "" "01695" "{PMID:Sodi 2008:25389627}" "two siblings, one affected, one unaffected" "M" "?" "Italy" "" "0" "" "" "" "Case 1"
"00364915" "" "" "" "1" "" "01695" "{PMID:Sodi 2008:25389627}" "two siblings, one affected, one unaffected" "F" "?" "Italy" "" "0" "" "" "" "Case 2"
"00364916" "" "" "" "1" "" "01695" "{PMID:Teussink 2015:25681002}" "" "F" "?" "Netherlands" "" "0" "" "" "white" "1"
"00364917" "" "" "" "1" "" "01695" "{PMID:Teussink 2015:25681002}" "" "F" "?" "Netherlands" "" "0" "" "" "white" "2"
"00364918" "" "" "" "1" "" "01695" "{PMID:Teussink 2015:25681002}" "" "M" "?" "Netherlands" "" "0" "" "" "white" "3"
"00364919" "" "" "" "1" "" "01695" "{PMID:Teussink 2015:25681002}" "" "M" "?" "Netherlands" "" "0" "" "" "white" "4"
"00364920" "" "" "" "1" "" "01695" "{PMID:Teussink 2015:25681002}" "" "M" "?" "Netherlands" "" "0" "" "" "white" "5"
"00364921" "" "" "" "1" "" "01695" "{PMID:Pang 2015:25707054}" "" "F" "?" "United States" "" "0" "" "" "" "Unknown 323"
"00364922" "" "" "" "1" "" "01695" "{PMID:Arai 2015:26161267}" "" "" "?" "Japan" "" "0" "" "" "Japan" "Unknown 324"
"00364923" "" "" "" "1" "" "01695" "{PMID:Sparrow 2015:26230768}" "" "M" "?" "United States" "" "0" "" "" "white" "2"
"00364924" "" "" "" "1" "" "01695" "{PMID:Sparrow 2015:26230768}" "" "M" "?" "United States" "" "0" "" "" "white" "10*"
"00364925" "" "" "" "1" "" "01695" "{PMID:Sparrow 2015:26230768}" "" "M" "?" "United States" "" "0" "" "" "white" "13*"
"00364926" "" "" "" "1" "" "01695" "{PMID:Sparrow 2015:26230768}" "" "M" "?" "United States" "" "0" "" "" "white" "14*"
"00364927" "" "" "" "1" "" "01695" "{PMID:Sparrow 2015:26230768}" "" "M" "?" "United States" "" "0" "" "" "African American" "15"
"00364928" "" "" "" "1" "" "01695" "{PMID:Sparrow 2015:26230768}" "" "F" "?" "United States" "" "0" "" "" "white" "17"
"00364929" "" "" "" "1" "" "01695" "{PMID:Sparrow 2015:26230768}" "" "F" "?" "United States" "" "0" "" "" "white" "19"
"00364930" "" "" "" "1" "" "01695" "{PMID:Cideciyan 2015:26377081}" "" "F" "?" "" "" "0" "" "" "" "67"
"00364931" "" "" "" "1" "" "01695" "{PMID:Cideciyan 2015:26377081}" "" "M" "?" "" "" "0" "" "" "" "68"
"00364932" "" "" "" "1" "" "01695" "{PMID:Cideciyan 2015:26377081}" "" "F" "?" "" "" "0" "" "" "" "69"
"00364933" "" "" "" "1" "" "01695" "{PMID:Cideciyan 2015:26377081}" "" "M" "?" "" "" "0" "" "" "" "70"
"00364934" "" "" "" "1" "" "01695" "{PMID:Cideciyan 2015:26377081}" "sibling of patient 74" "F" "?" "" "" "0" "" "" "" "73"
"00364935" "" "" "" "1" "" "01695" "{PMID:Cideciyan 2015:26377081}" "sibling of patient 73" "M" "?" "" "" "0" "" "" "" "74"
"00364936" "" "" "" "1" "" "01695" "{PMID:Cideciyan 2015:26377081}" "" "M" "?" "" "" "0" "" "" "" "75"
"00364937" "" "" "" "1" "" "01695" "{PMID:Cideciyan 2015:26377081}" "sibling of patients 77 & 78" "F" "?" "" "" "0" "" "" "" "76"
"00364938" "" "" "" "1" "" "01695" "{PMID:Cideciyan 2015:26377081}" "sibling of patients 76 & 78" "F" "?" "" "" "0" "" "" "" "77"
"00364939" "" "" "" "1" "" "01695" "{PMID:Cideciyan 2015:26377081}" "sibling of patients 76 & 77" "F" "?" "" "" "0" "" "" "" "78"
"00364940" "" "" "" "1" "" "01695" "{PMID:Cideciyan 2015:26377081}" "" "F" "?" "" "" "0" "" "" "" "79"
"00364941" "" "" "" "1" "" "01695" "{PMID:Cideciyan 2015:26377081}" "" "F" "?" "" "" "0" "" "" "" "80"
"00364942" "" "" "" "1" "" "01695" "{PMID:Cideciyan 2015:26377081}" "" "M" "?" "" "" "0" "" "" "" "81"
"00364943" "" "" "" "1" "" "01695" "{PMID:Cideciyan 2015:26377081}" "" "M" "?" "" "" "0" "" "" "" "82"
"00364944" "" "" "" "1" "" "01695" "{PMID:Cideciyan 2015:26377081}" "" "M" "?" "" "" "0" "" "" "" "83"
"00364945" "" "" "" "1" "" "01695" "{PMID:Cideciyan 2015:26377081}" "sibling of patient 85" "M" "?" "" "" "0" "" "" "" "84"
"00364946" "" "" "" "1" "" "01695" "{PMID:Cideciyan 2015:26377081}" "sibling of patient 84" "F" "?" "" "" "0" "" "" "" "85"
"00364947" "" "" "" "1" "" "01695" "{PMID:Cideciyan 2015:26377081}{PMID:Cideciyan 2012:22247458}" "" "F" "?" "" "" "0" "" "" "" "88; P30"
"00364948" "" "" "" "1" "" "01695" "{PMID:Cideciyan 2015:26377081}" "" "F" "?" "" "" "0" "" "" "" "89"
"00364949" "" "" "" "1" "" "01695" "{PMID:Cideciyan 2015:26377081}" "" "F" "?" "" "" "0" "" "" "" "90"
"00364950" "" "" "" "1" "" "01695" "{PMID:Olivo 2015:26574798}" "" "F" "?" "Italy" "" "0" "" "" "" "Unknown 325"
"00364951" "" "" "" "1" "" "01695" "{PMID:Olivo 2015:26574798}" "" "M" "?" "Italy" "" "0" "" "" "" "Unknown 326"
"00364952" "" "" "" "1" "" "01695" "{PMID:Olivo 2015:26574798}" "" "M" "?" "Italy" "" "0" "" "" "" "Unknown 327"
"00364953" "" "" "" "1" "" "01695" "{PMID:Olivo 2015:26574798}" "" "F" "?" "Italy" "" "0" "" "" "" "Unknown 328"
"00364954" "" "" "" "1" "" "01695" "{PMID:Olivo 2015:26574798}{PMID:Melillo 2018:29625472}{PMID:Melillo 2020:32821503}" "" "M" "?" "Italy" "" "0" "" "" "" "Unknown 329; 5; T5"
"00364955" "" "" "" "1" "" "01695" "{PMID:Olivo 2015:26574798}" "" "M" "?" "Italy" "" "0" "" "" "" "Unknown 330"
"00364956" "" "" "" "1" "" "01695" "{PMID:Olivo 2015:26574798}" "" "F" "?" "Italy" "" "0" "" "" "" "Unknown 331"
"00364957" "" "" "" "1" "" "01695" "{PMID:Olivo 2015:26574798}" "" "M" "?" "Italy" "" "0" "" "" "" "Unknown 332"
"00364958" "" "" "" "1" "" "01695" "{PMID:Olivo 2015:26574798}{PMID:Melillo 2018:29625472}{PMID:Melillo 2020:32821503}" "" "M" "?" "Italy" "" "0" "" "" "" "Unknown 333; 9; T9"
"00364959" "" "" "" "1" "" "01695" "{PMID:Olivo 2015:26574798}{PMID:Melillo 2018:29625472}{PMID:Melillo 2020:32821503}" "" "M" "?" "Italy" "" "0" "" "" "" "Unknown 334; 23; C11"
"00364960" "" "" "" "1" "" "01695" "{PMID:Olivo 2015:26574798}" "" "M" "?" "Italy" "" "0" "" "" "" "Unknown 335"
"00364961" "" "" "" "1" "" "01695" "{PMID:Olivo 2015:26574798}{PMID:Melillo 2018:29625472}{PMID:Melillo 2020:32821503}" "" "F" "?" "Italy" "" "0" "" "" "" "Unknown 336; C2; 13"
"00364962" "" "" "" "1" "" "01695" "{PMID:Olivo 2015:26574798}{PMID:Melillo 2018:29625472}" "Possibly a sibling of Unknown 342" "M" "?" "Italy" "" "0" "" "" "" "Unknown 337"
"00364963" "" "" "" "1" "" "01695" "{PMID:Olivo 2015:26574798}{PMID:Melillo 2018:29625472}{PMID:Melillo 2020:32821503}" "" "M" "?" "Italy" "" "0" "" "" "" "Unknown 338; 15; C3"
"00364964" "" "" "" "1" "" "01695" "{PMID:Olivo 2015:26574798}{PMID:Melillo 2018:29625472}{PMID:Melillo 2020:32821503}" "" "F" "?" "Italy" "" "0" "" "" "" "Unknown 339; 16; C4"
"00364965" "" "" "" "1" "" "01695" "{PMID:Olivo 2015:26574798}" "" "M" "?" "Italy" "" "0" "" "" "" "Unknown 340"
"00364966" "" "" "" "1" "" "01695" "{PMID:Olivo 2015:26574798}{PMID:Melillo 2018:29625472}{PMID:Melillo 2020:32821503}" "" "F" "?" "Italy" "" "0" "" "" "" "Unknown 341; 17; C5"
"00364967" "" "" "" "1" "" "01695" "{PMID:Olivo 2015:26574798}{PMID:Melillo 2018:29625472}{PMID:Melillo 2020:32821503}" "Possibly a sibling of Unknown 337" "M" "?" "Italy" "" "0" "" "" "" "Unknown 342; 1; T11"
"00364968" "" "" "" "1" "" "01695" "{PMID:Perez-Carro 2016:26806561}" "" "" "?" "Spain" "" "0" "" "" "" "RP-1543"
"00364969" "" "" "" "1" "" "01695" "{PMID:Bernstein 2016:26909568}" "" "" "?" "United States" "" "0" "" "" "" "1"
"00364970" "" "" "" "1" "" "01695" "{PMID:Bernstein 2016:26909568}" "" "" "?" "United States" "" "0" "" "" "" "2"
"00364971" "" "" "" "1" "" "01695" "{PMID:Bernstein 2016:26909568}" "" "" "?" "United States" "" "0" "" "" "" "3"
"00364972" "" "" "" "1" "" "01695" "{PMID:Bernstein 2016:26909568}" "" "" "?" "United States" "" "0" "" "" "" "5"
"00364973" "" "" "" "1" "" "01695" "{PMID:Bernstein 2016:26909568}" "" "" "?" "United States" "" "0" "" "" "" "6"
"00364974" "" "" "" "1" "" "01695" "{PMID:Bernstein 2016:26909568}" "" "" "?" "United States" "" "0" "" "" "" "7"
"00364975" "" "" "" "1" "" "01695" "{PMID:Oishi 2016:26957898}" "" "F" "no" "Japan" "" "0" "" "" "" "K1741"
"00364976" "" "" "" "1" "" "01695" "{PMID:Oishi 2016:26957898}" "also has an affected brother" "F" "yes" "Japan" "" "0" "" "" "" "K2044"
"00364977" "" "" "" "1" "" "01695" "{PMID:Oishi 2016:26957898}" "" "F" "no" "Japan" "" "0" "" "" "" "K2039"
"00364978" "" "" "" "1" "" "01695" "{PMID:Oishi 2016:26957898}" "" "M" "yes" "Japan" "" "0" "" "" "" "K6120"
"00364979" "" "" "" "1" "" "01695" "{PMID:Huang 2016:26992781}" "" "" "?" "China" "" "0" "" "" "" "QT272"
"00364980" "" "" "" "1" "" "01695" "{PMID:Huang 2016:26992781}" "" "" "?" "China" "" "0" "" "" "" "QT823"
"00364981" "" "" "" "1" "" "01695" "{PMID:Huang 2016:26992781}" "" "" "?" "China" "" "0" "" "" "" "QT915"
"00364982" "" "" "" "1" "" "01695" "{PMID:Huang 2016:26992781}" "" "" "?" "China" "" "0" "" "" "" "QT1214"
"00364983" "" "" "" "1" "" "01695" "{PMID:Huang 2016:26992781}" "" "" "?" "China" "" "0" "" "" "" "MD33"
"00364984" "" "" "" "1" "" "01695" "{PMID:Tsipi 2016:27014590}" "" "F" "?" "Greece" "" "0" "" "" "" "1"
"00364985" "" "" "" "1" "" "01695" "{PMID:Tsipi 2016:27014590}" "" "F" "?" "Greece" "" "0" "" "" "" "5"
"00364986" "" "" "" "1" "" "01695" "{PMID:Tsipi 2016:27014590}" "" "M" "?" "Greece" "" "0" "" "" "" "7"
"00364987" "" "" "" "1" "" "01695" "{PMID:Tsipi 2016:27014590}" "" "M" "?" "Greece" "" "0" "" "" "" "8"
"00364988" "" "" "" "1" "" "01695" "{PMID:Tsipi 2016:27014590}" "" "M" "?" "Greece" "" "0" "" "" "" "9"
"00364989" "" "" "" "1" "" "01695" "{PMID:Tsipi 2016:27014590}" "" "M" "?" "Greece" "" "0" "" "" "" "15"
"00364990" "" "" "" "1" "" "01695" "{PMID:Tsipi 2016:27014590}" "" "F" "?" "Greece" "" "0" "" "" "" "16"
"00364991" "" "" "" "1" "" "01695" "{PMID:Tsipi 2016:27014590}" "" "F" "?" "Greece" "" "0" "" "" "" "17"
"00364992" "" "" "" "1" "" "01695" "{PMID:Tsipi 2016:27014590}" "" "M" "?" "Greece" "" "0" "" "" "" "18"
"00364993" "" "" "" "1" "" "01695" "{PMID:Tsipi 2016:27014590}" "likely sibling of patients 20 and 21" "F" "?" "Greece" "" "0" "" "" "" "19"
"00364994" "" "" "" "1" "" "01695" "{PMID:Tsipi 2016:27014590}" "likely sibling of patients 19 and 21" "M" "?" "Greece" "" "0" "" "" "" "20"
"00364995" "" "" "" "1" "" "01695" "{PMID:Tsipi 2016:27014590}" "likely sibling of patients 19 and 20" "M" "?" "Greece" "" "0" "" "" "" "21"
"00364996" "" "" "" "1" "" "01695" "{PMID:Tsipi 2016:27014590}" "" "F" "?" "Greece" "" "0" "" "" "" "22"
"00364997" "" "" "" "1" "" "01695" "{PMID:Huckfeldt 2016:27030965}" "mother of patient 2 and 3" "F" "?" "United States" "" "0" "" "" "" "1"
"00364998" "" "" "" "1" "" "01695" "{PMID:Huckfeldt 2016:27030965}" "child of patient 1 and sibling of patient 3" "F" "?" "United States" "" "0" "" "" "" "2"
"00364999" "" "" "" "1" "" "01695" "{PMID:Huckfeldt 2016:27030965}{PMID:Stone 2017:28559085}" "child of patient 1 and sibling of patient 2" "F" "?" "United States" "" "0" "" "" "" "3; 738"
"00365000" "" "" "" "1" "" "01695" "{PMID:Bravo-Gil 2016:27032803}" "" "" "?" "Spain" "" "0" "" "" "white" "RP298"
"00365001" "" "" "" "1" "" "01695" "{PMID:Lee 2016:27367509}" "Sibling of patient 3" "F" "?" "United States" "" "0" "" "" "" "2"
"00365002" "" "" "" "1" "" "01695" "{PMID:Lee 2016:27367509}" "Sibling of patient 3" "F" "?" "United States" "" "0" "" "" "" "3"
"00365003" "" "" "" "1" "" "01695" "{PMID:Sundaramurthy 2016:27383656}" "" "" "yes" "India" "" "0" "" "" "India-S" "Unknown 343"
"00365004" "" "" "" "1" "" "01695" "{PMID:Müller 2017:27414126}{PMID:Gliem 2020:32646556}" "" "F" "?" "Germany" "" "0" "" "" "" "1; 47"
"00365005" "" "" "" "1" "" "01695" "{PMID:Müller 2017:27414126}{PMID:Gliem 2020:32646556}" "" "F" "?" "Germany" "" "0" "" "" "" "12; 9"
"00365006" "" "" "" "1" "" "01695" "{PMID:Fakin 2016:27583828}" "" "" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "1272"
"00365007" "" "" "" "1" "" "01695" "{PMID:Fakin 2016:27583828}" "" "" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "14570"
"00365008" "" "" "" "1" "" "01695" "{PMID:Fakin 2016:27583828}" "" "" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "15503"
"00365009" "" "" "" "1" "" "01695" "{PMID:Fakin 2016:27583828}" "sibling of 16746.2 and 16746.3" "" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "16746,1"
"00365010" "" "" "" "1" "" "01695" "{PMID:Fakin 2016:27583828}" "sibling of 16746.1 and 16746.3" "" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "16746,2"
"00365011" "" "" "" "1" "" "01695" "{PMID:Fakin 2016:27583828}" "sibling of 16746.1 and 16746.2" "" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "16746,3"
"00365012" "" "" "" "1" "" "01695" "{PMID:Fakin 2016:27583828}" "" "" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "16952"
"00365013" "" "" "" "1" "" "01695" "{PMID:Fakin 2016:27583828}" "" "" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "17519"
"00365014" "" "" "" "1" "" "01695" "{PMID:Fakin 2016:27583828}" "sibling of 17752.2" "" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "17752,1"
"00365015" "" "" "" "1" "" "01695" "{PMID:Fakin 2016:27583828}" "sibling of 17752.1" "" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "17752,2"
"00365016" "" "" "" "1" "" "01695" "{PMID:Fakin 2016:27583828}" "" "" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "18723"
"00365017" "" "" "" "1" "" "01695" "{PMID:Fakin 2016:27583828}" "" "" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "19483"
"00365018" "" "" "" "1" "" "01695" "{PMID:Fakin 2016:27583828}" "" "" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "20005"
"00365019" "" "" "" "1" "" "01695" "{PMID:Fakin 2016:27583828}" "sibling of 20300.2" "" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "20300,1"
"00365020" "" "" "" "1" "" "01695" "{PMID:Fakin 2016:27583828}" "sibling of 20300.1" "" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "20300,2"
"00365021" "" "" "" "1" "" "01695" "{PMID:Fakin 2016:27583828}" "" "" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "20477"
"00365022" "" "" "" "1" "" "01695" "{PMID:Fakin 2016:27583828}" "" "" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "21316"
"00365023" "" "" "" "1" "" "01695" "{PMID:Fakin 2016:27583828}" "" "" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "21543"
"00365024" "" "" "" "1" "" "01695" "{PMID:Fakin 2016:27583828}" "" "" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "3303"
"00365025" "" "" "" "1" "" "01695" "{PMID:Fakin 2016:27583828}" "" "" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "20507"
"00365026" "" "" "" "1" "" "01695" "{PMID:Fakin 2016:27583828}{PMID:Fakin 2016:27820952}" "" "F" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "20531"
"00365027" "" "" "" "1" "" "01695" "{PMID:Fakin 2016:27583828}" "" "" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "20862"
"00365028" "" "" "" "1" "" "01695" "{PMID:Fakin 2016:27583828}" "" "" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "14447"
"00365029" "" "" "" "1" "" "01695" "{PMID:Fakin 2016:27583828}" "sibling of 16425.2" "" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "16425,1"
"00365030" "" "" "" "1" "" "01695" "{PMID:Fakin 2016:27583828}" "sibling of 16425.1" "" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "16425,2"
"00365031" "" "" "" "1" "" "01695" "{PMID:Fakin 2016:27583828}" "" "" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "17005"
"00365032" "" "" "" "1" "" "01695" "{PMID:Fakin 2016:27583828}" "" "" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "17040"
"00365033" "" "" "" "1" "" "01695" "{PMID:Fakin 2016:27583828}" "" "" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "17286"
"00365034" "" "" "" "1" "" "01695" "{PMID:Fakin 2016:27583828}" "" "" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "18671"
"00365035" "" "" "" "1" "" "01695" "{PMID:Fakin 2016:27583828}" "sibling of 19213.2" "" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "19213,1"
"00365036" "" "" "" "1" "" "01695" "{PMID:Fakin 2016:27583828}" "sibling of 19213.1" "" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "19213,2"
"00365037" "" "" "" "1" "" "01695" "{PMID:Fakin 2016:27583828}" "" "" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "19372"
"00365038" "" "" "" "1" "" "01695" "{PMID:Fakin 2016:27583828}" "" "" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "19820"
"00365039" "" "" "" "1" "" "01695" "{PMID:Fakin 2016:27583828}" "" "" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "19825"
"00365040" "" "" "" "1" "" "01695" "{PMID:Fakin 2016:27583828}" "" "" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "20027,1"
"00365041" "" "" "" "1" "" "01695" "{PMID:Fakin 2016:27583828}" "" "" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "20027,2"
"00365042" "" "" "" "1" "" "01695" "{PMID:Fakin 2016:27583828}" "" "" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "20815"
"00365043" "" "" "" "1" "" "01695" "{PMID:Fakin 2016:27583828}" "" "" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "20868"
"00365044" "" "" "" "1" "" "01695" "{PMID:Fakin 2016:27583828}" "sibling of 21140.2 and 21140.3" "" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "21140,1"
"00365045" "" "" "" "1" "" "01695" "{PMID:Fakin 2016:27583828}" "sibling of 21140.1 and 21140.3" "" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "21140,2"
"00365046" "" "" "" "1" "" "01695" "{PMID:Fakin 2016:27583828}" "sibling of 21140.1 and 21140.2" "" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "21140,3"
"00365047" "" "" "" "1" "" "01695" "{PMID:Fakin 2016:27583828}" "" "" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "21181"
"00365048" "" "" "" "1" "" "01695" "{PMID:Fakin 2016:27583828}" "" "" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "21385"
"00365049" "" "" "" "1" "" "01695" "{PMID:Fakin 2016:27583828}" "" "" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "21688"
"00365050" "" "" "" "1" "" "01695" "{PMID:Fakin 2016:27583828}" "sibling of 5295.2" "" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "5295,1"
"00365051" "" "" "" "1" "" "01695" "{PMID:Fakin 2016:27583828}" "sibling of 5295.1" "" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "5295,2"
"00365052" "" "" "" "1" "" "01695" "{PMID:Fakin 2016:27583828}{PMID:Fakin 2016:27820952}" "" "F" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "4657"
"00365053" "" "" "" "1" "" "01695" "{PMID:Fakin 2016:27583828}{PMID:Fakin 2016:27820952}" "sibling of 15017.2" "M" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "15017,1"
"00365054" "" "" "" "1" "" "01695" "{PMID:Fakin 2016:27583828}{PMID:Fakin 2016:27820952}" "sibling of 15017.1" "M" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "15017,2"
"00365055" "" "" "" "1" "" "01695" "{PMID:Fakin 2016:27583828}" "" "" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "15076"
"00365056" "" "" "" "1" "" "01695" "{PMID:Fakin 2016:27583828}{PMID:Fakin 2016:27820952}" "" "F" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "16470"
"00365057" "" "" "" "1" "" "01695" "{PMID:Fakin 2016:27583828}{PMID:Fakin 2016:27820952}" "" "M" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "16804"
"00365058" "" "" "" "1" "" "01695" "{PMID:Fakin 2016:27583828}{PMID:Fakin 2016:27820952}" "" "M" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "17019"
"00365059" "" "" "" "1" "" "01695" "{PMID:Fakin 2016:27583828}" "" "" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "17363"
"00365060" "" "" "" "1" "" "01695" "{PMID:Fakin 2016:27583828}{PMID:Fakin 2016:27820952}" "" "F" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "19766"
"00365061" "" "" "" "1" "" "01695" "{PMID:Fakin 2016:27583828}" "" "F" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "19782"
"00365062" "" "" "" "1" "" "01695" "{PMID:Fakin 2016:27583828}{PMID:Fakin 2016:27820952}" "" "M" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "19967"
"00365063" "" "" "" "1" "" "01695" "{PMID:Fakin 2016:27583828}{PMID:Fakin 2016:27820952}" "" "F" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "19969"
"00365064" "" "" "" "1" "" "01695" "{PMID:Fakin 2016:27583828}" "" "" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "16051"
"00365065" "" "" "" "1" "" "01695" "{PMID:Fakin 2016:27583828}" "" "" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "16803"
"00365066" "" "" "" "1" "" "01695" "{PMID:Fakin 2016:27583828}" "" "" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "16917"
"00365067" "" "" "" "1" "" "01695" "{PMID:Fakin 2016:27583828}" "" "" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "20081"
"00365068" "" "" "" "1" "" "01695" "{PMID:Fakin 2016:27583828}" "" "" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "20816"
"00365069" "" "" "" "1" "" "01695" "{PMID:Fakin 2016:27583828}" "" "" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "21233"
"00365070" "" "" "" "1" "" "01695" "{PMID:Fakin 2016:27583828}" "" "" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "5296"
"00365071" "" "" "" "1" "" "01695" "{PMID:Lambertus 2016:27699414}" "" "" "?" "Netherlands" "" "0" "" "" "" "9"
"00365072" "" "" "" "1" "" "01695" "{PMID:Lambertus 2016:27699414}" "" "" "?" "Netherlands" "" "0" "" "" "" "12"
"00365073" "" "" "" "1" "" "01695" "{PMID:Lambertus 2016:27699414}" "" "" "?" "Netherlands" "" "0" "" "" "" "13"
"00365074" "" "" "" "1" "" "01695" "{PMID:Lambertus 2016:27699414}" "" "" "?" "Netherlands" "" "0" "" "" "" "14"
"00365075" "" "" "" "1" "" "01695" "{PMID:Lambertus 2016:27699414}" "" "" "?" "Netherlands" "" "0" "" "" "" "15"
"00365076" "" "" "" "1" "" "01695" "{PMID:Lambertus 2016:27699414}" "" "" "?" "Netherlands" "" "0" "" "" "" "22"
"00365077" "" "" "" "1" "" "01695" "{PMID:Lambertus 2016:27699414}" "" "" "?" "Netherlands" "" "0" "" "" "" "26"
"00365078" "" "" "" "1" "" "01695" "{PMID:Lambertus 2016:27699414}" "" "" "?" "Netherlands" "" "0" "" "" "" "28"
"00365079" "" "" "" "1" "" "01695" "{PMID:Lambertus 2016:27699414}" "" "" "?" "Netherlands" "" "0" "" "" "" "29"
"00365080" "" "" "" "1" "" "01695" "{PMID:Lambertus 2016:27699414}" "" "" "?" "Netherlands" "" "0" "" "" "" "30"
"00365081" "" "" "" "1" "" "01695" "{PMID:Lambertus 2016:27699414}" "" "" "?" "Netherlands" "" "0" "" "" "" "32"
"00365082" "" "" "" "1" "" "01695" "{PMID:Lambertus 2016:27699414}" "" "" "?" "Netherlands" "" "0" "" "" "" "33"
"00365083" "" "" "" "1" "" "01695" "{PMID:Lambertus 2016:27699414}" "" "" "?" "Netherlands" "" "0" "" "" "" "34"
"00365084" "" "" "" "1" "" "01695" "{PMID:Lambertus 2016:27699414}" "" "" "?" "Netherlands" "" "0" "" "" "" "35"
"00365085" "" "" "" "1" "" "01695" "{PMID:Lambertus 2016:27699414}" "" "" "?" "Netherlands" "" "0" "" "" "" "36"
"00365086" "" "" "" "1" "" "01695" "{PMID:Lambertus 2016:27699414}" "" "" "?" "Netherlands" "" "0" "" "" "" "37"
"00365087" "" "" "" "1" "" "01695" "{PMID:Parker 2016:27730010}" "" "" "?" "" "" "0" "" "" "" "1"
"00365088" "" "" "" "1" "" "01695" "{PMID:Parker 2016:27730010}" "" "" "?" "" "" "0" "" "" "" "2"
"00365089" "" "" "" "1" "" "01695" "{PMID:Parker 2016:27730010}" "" "" "?" "" "" "0" "" "" "" "3"
"00365090" "" "" "" "1" "" "01695" "{PMID:Parker 2016:27730010}" "" "" "?" "" "" "0" "" "" "" "4"
"00365091" "" "" "" "1" "" "01695" "{PMID:Parker 2016:27730010}" "" "" "?" "" "" "0" "" "" "" "5"
"00365092" "" "" "" "1" "" "01695" "{PMID:Parker 2016:27730010}" "" "" "?" "" "" "0" "" "" "" "6"
"00365093" "" "" "" "1" "" "01695" "{PMID:Parker 2016:27730010}" "" "" "?" "" "" "0" "" "" "" "7"
"00365094" "" "" "" "1" "" "01695" "{PMID:Parker 2016:27730010}" "" "" "?" "" "" "0" "" "" "" "8"
"00365095" "" "" "" "1" "" "01695" "{PMID:Parker 2016:27730010}" "" "" "?" "" "" "0" "" "" "" "9"
"00365096" "" "" "" "1" "" "01695" "{PMID:Parker 2016:27730010}" "" "" "?" "" "" "0" "" "" "" "10"
"00365097" "" "" "" "1" "" "01695" "{PMID:Parker 2016:27730010}" "" "" "?" "" "" "0" "" "" "" "11"
"00365098" "" "" "" "1" "" "01695" "{PMID:Parker 2016:27730010}" "" "" "?" "" "" "0" "" "" "" "12"
"00365099" "" "" "" "1" "" "01695" "{PMID:Parker 2016:27730010}" "" "" "?" "" "" "0" "" "" "" "13"
"00365100" "" "" "" "1" "" "01695" "{PMID:Parker 2016:27730010}" "" "" "?" "" "" "0" "" "" "" "14"
"00365101" "" "" "" "1" "" "01695" "{PMID:Parker 2016:27730010}" "" "" "?" "" "" "0" "" "" "" "15"
"00365102" "" "" "" "1" "" "01695" "{PMID:Parker 2016:27730010}" "" "" "?" "" "" "0" "" "" "" "16"
"00365103" "" "" "" "1" "" "01695" "{PMID:Parker 2016:27730010}" "" "" "?" "" "" "0" "" "" "" "17"
"00365104" "" "" "" "1" "" "01695" "{PMID:Parker 2016:27730010}" "" "" "?" "" "" "0" "" "" "" "18"
"00365105" "" "" "" "1" "" "01695" "{PMID:Parker 2016:27730010}" "" "" "?" "" "" "0" "" "" "" "19"
"00365106" "" "" "" "1" "" "01695" "{PMID:Parker 2016:27730010}" "" "" "?" "" "" "0" "" "" "" "20"
"00365107" "" "" "" "1" "" "01695" "{PMID:Parker 2016:27730010}" "" "" "?" "" "" "0" "" "" "" "21"
"00365108" "" "" "" "1" "" "01695" "{PMID:Parker 2016:27730010}" "" "" "?" "" "" "0" "" "" "" "22"
"00365109" "" "" "" "1" "" "01695" "{PMID:Lin 2016:27739528}" "" "F" "no" "China" "" "0" "" "" "China" "F1:III:1"
"00365110" "" "" "" "1" "" "01695" "{PMID:Lin 2016:27739528}" "" "F" "no" "China" "" "0" "" "" "China" "F2:II:1"
"00365111" "" "" "" "1" "" "01695" "{PMID:Lin 2016:27739528}" "" "M" "no" "China" "" "0" "" "" "China" "F3:II:2"
"00365112" "" "" "" "1" "" "01695" "{PMID:Lin 2016:27739528}" "" "F" "no" "China" "" "0" "" "" "China" "F4:II:1"
"00365113" "" "" "" "1" "" "01695" "{PMID:Aukrust 2017:27775217}" "" "" "?" "Norway" "" "0" "" "" "" "1"
"00365114" "" "" "" "1" "" "01695" "{PMID:Aukrust 2017:27775217}" "" "" "?" "Norway" "" "0" "" "" "" "2"
"00365115" "" "" "" "1" "" "01695" "{PMID:Aukrust 2017:27775217}" "" "" "?" "Norway" "" "0" "" "" "" "3"
"00365116" "" "" "" "1" "" "01695" "{PMID:Aukrust 2017:27775217}" "" "" "?" "Norway" "" "0" "" "" "" "4"
"00365117" "" "" "" "1" "" "01695" "{PMID:Fakin 2016:27820952}" "" "F" "?" "" "" "0" "" "" "" "17363"
"00365118" "" "" "" "1" "" "01695" "{PMID:Fakin 2016:27820952}" "" "F" "?" "" "" "0" "" "" "" "16830"
"00365119" "" "" "" "1" "" "01695" "{PMID:Fakin 2016:27820952}" "" "F" "?" "" "" "0" "" "" "" "18788"
"00365120" "" "" "" "1" "" "01695" "{PMID:Fakin 2016:27820952}" "" "F" "?" "" "" "0" "" "" "" "18804"
"00365121" "" "" "" "1" "" "01695" "{PMID:Fakin 2016:27820952}" "" "M" "?" "" "" "0" "" "" "" "19572"
"00365122" "" "" "" "1" "" "01695" "{PMID:Fakin 2016:27820952}" "" "M" "?" "" "" "0" "" "" "" "20002"
"00365123" "" "" "" "1" "" "01695" "{PMID:Fakin 2016:27820952}" "" "F" "?" "" "" "0" "" "" "" "20942"
"00365124" "" "" "" "1" "" "01695" "{PMID:Fakin 2016:27820952}" "" "M" "?" "" "" "0" "" "" "" "21852"
"00365125" "" "" "" "1" "" "01695" "{PMID:Fakin 2016:27820952}" "" "F" "?" "" "" "0" "" "" "" "22520"
"00365126" "" "" "" "1" "" "01695" "{PMID:Fakin 2016:27820952}" "" "F" "?" "" "" "0" "" "" "" "22627"
"00365127" "" "" "" "1" "" "01695" "{PMID:Fakin 2016:27820952}{PMID:Fujinami 2019:29925512}{PMID:Fakin 2016:27583828}" "" "M" "?" "" "" "0" "" "" "" "18556; 14013"
"00365128" "" "" "" "1" "" "01695" "{PMID:Fakin 2016:27820952}" "" "F" "?" "" "" "0" "" "" "" "22666"
"00365129" "" "" "" "1" "" "01695" "{PMID:Fakin 2016:27820952}" "" "F" "?" "" "" "0" "" "" "" "14365"
"00365130" "" "" "" "1" "" "01695" "{PMID:Fakin 2016:27820952}" "" "M" "?" "" "" "0" "" "" "" "5071"
"00365131" "" "" "" "1" "" "01695" "{PMID:Fakin 2016:27820952}" "" "M" "?" "" "" "0" "" "" "" "14370"
"00365132" "" "" "" "1" "" "01695" "{PMID:Fakin 2016:27820952}" "" "M" "?" "" "" "0" "" "" "" "15929"
"00365133" "" "" "" "1" "" "01695" "{PMID:Fakin 2016:27820952}" "" "M" "?" "" "" "0" "" "" "" "16501"
"00365134" "" "" "" "1" "" "01695" "{PMID:Fakin 2016:27820952}" "" "M" "?" "" "" "0" "" "" "" "16852"
"00365135" "" "" "" "1" "" "01695" "{PMID:Fakin 2016:27820952}" "" "F" "?" "" "" "0" "" "" "" "17021"
"00365136" "" "" "" "1" "" "01695" "{PMID:Fakin 2016:27820952}" "" "M" "?" "" "" "0" "" "" "" "17235"
"00365137" "" "" "" "1" "" "01695" "{PMID:Fakin 2016:27820952}" "" "F" "?" "" "" "0" "" "" "" "17654"
"00365138" "" "" "" "1" "" "01695" "{PMID:Fakin 2016:27820952}" "" "M" "?" "" "" "0" "" "" "" "18020"
"00365139" "" "" "" "1" "" "01695" "{PMID:Fakin 2016:27820952}" "" "F" "?" "" "" "0" "" "" "" "18839"
"00365140" "" "" "" "1" "" "01695" "{PMID:Fakin 2016:27820952}" "" "M" "?" "" "" "0" "" "" "" "19140"
"00365141" "" "" "" "1" "" "01695" "{PMID:Fakin 2016:27820952}" "" "F" "?" "" "" "0" "" "" "" "19545"
"00365142" "" "" "" "1" "" "01695" "{PMID:Fakin 2016:27820952}" "" "F" "?" "" "" "0" "" "" "" "19783"
"00365143" "" "" "" "1" "" "01695" "{PMID:Fakin 2016:27820952}" "" "F" "?" "" "" "0" "" "" "" "19800"
"00365144" "" "" "" "1" "" "01695" "{PMID:Fakin 2016:27820952}" "" "M" "?" "" "" "0" "" "" "" "19969"
"00365145" "" "" "" "1" "" "01695" "{PMID:Fakin 2016:27820952}" "" "F" "?" "" "" "0" "" "" "" "21890"
"00365146" "" "" "" "1" "" "01695" "{PMID:Fakin 2016:27820952}" "" "F" "?" "" "" "0" "" "" "" "5153"
"00365147" "" "" "" "1" "" "01695" "{PMID:Fakin 2016:27820952}" "" "M" "?" "" "" "0" "" "" "" "5270"
"00365148" "" "" "" "1" "" "01695" "{PMID:Fakin 2016:27820952}" "" "M" "?" "" "" "0" "" "" "" "5377"
"00365149" "" "" "" "1" "" "01695" "{PMID:Fakin 2016:27820952}" "" "F" "?" "" "" "0" "" "" "" "14363"
"00365150" "" "" "" "1" "" "01695" "{PMID:Fakin 2016:27820952}" "" "M" "?" "" "" "0" "" "" "" "17024"
"00365151" "" "" "" "1" "" "01695" "{PMID:Fakin 2016:27820952}" "" "M" "?" "" "" "0" "" "" "" "17404"
"00365152" "" "" "" "1" "" "01695" "{PMID:Fakin 2016:27820952}{PMID:Georgiou 2019:31812472}" "" "F" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "22355; MM_0383"
"00365153" "" "" "" "1" "" "01695" "{PMID:Fakin 2016:27820952}" "" "F" "?" "" "" "0" "" "" "" "4465"
"00365154" "" "" "" "1" "" "01695" "{PMID:Fakin 2016:27820952}" "" "M" "?" "" "" "0" "" "" "" "5034"
"00365155" "" "" "" "1" "" "01695" "{PMID:Fakin 2016:27820952}" "" "F" "?" "" "" "0" "" "" "" "5034"
"00365156" "" "" "" "1" "" "01695" "{PMID:Fakin 2016:27820952}" "" "M" "?" "" "" "0" "" "" "" "5078"
"00365157" "" "" "" "1" "" "01695" "{PMID:Fakin 2016:27820952}" "" "M" "?" "" "" "0" "" "" "" "5355"
"00365158" "" "" "" "1" "" "01695" "{PMID:Fakin 2016:27820952}" "" "M" "?" "" "" "0" "" "" "" "20507"
"00365159" "" "" "" "1" "" "01695" "{PMID:Fakin 2016:27820952}" "" "F" "?" "" "" "0" "" "" "" "20862"
"00365160" "" "" "" "1" "" "01695" "{PMID:Fakin 2016:27820952}" "" "M" "?" "" "" "0" "" "" "" "21608"
"00365161" "" "" "" "1" "" "01695" "{PMID:Fakin 2016:27820952}" "" "M" "?" "" "" "0" "" "" "" "4451"
"00365162" "" "" "" "1" "" "01695" "{PMID:Fakin 2016:27820952}" "" "F" "?" "" "" "0" "" "" "" "20959"
"00365163" "" "" "" "1" "" "01695" "{PMID:Habibi 2016:27874104}" "" "F" "yes" "Tunisia" "" "0" "" "" "" "F3 IV:1"
"00365164" "" "" "" "1" "" "01695" "{PMID:Roberts 2016:27898983}" "sibling of RPM 537 II" "M" "no" "South Africa" "" "0" "" "" "Africa-Venda" "RPM 537 I"
"00365165" "" "" "" "1" "" "01695" "{PMID:Roberts 2016:27898983}" "sibling of RPM 537 I" "F" "no" "South Africa" "" "0" "" "" "Africa-Venda" "RPM 537 II"
"00365166" "" "" "" "1" "" "01695" "{PMID:Zolnikova 2017:27939946}" "" "F" "?" "Russia" "" "0" "" "" "Georgian" "P001"
"00365167" "" "" "" "1" "" "01695" "{PMID:Zolnikova 2017:27939946}" "" "M" "?" "Russia" "" "0" "" "" "Russia-Slavonia" "P003"
"00365168" "" "" "" "1" "" "01695" "{PMID:Zolnikova 2017:27939946}" "" "F" "?" "Russia" "" "0" "" "" "Russia-Slavonia" "P004"
"00365169" "" "" "" "1" "" "01695" "{PMID:Zolnikova 2017:27939946}" "in this patient 2 variants were identified in the RDH12 gene as well: c.133A>G Thr45Ala Heterozygously, c.482G>A Arg161Gln Heterozygously" "M" "?" "Russia" "" "0" "" "" "Russia-Slavonia" "P005"
"00365170" "" "" "" "1" "" "01695" "{PMID:Zolnikova 2017:27939946}" "In this patient, the c.279G>C variant in BEST1 was also identified" "M" "?" "Russia" "" "0" "" "" "Russia-Slavonia" "P006"
"00365171" "" "" "" "1" "" "01695" "{PMID:Zolnikova 2017:27939946}" "" "M" "?" "Russia" "" "0" "" "" "Chechen" "P009"
"00365172" "" "" "" "1" "" "01695" "{PMID:Zolnikova 2017:27939946}" "" "F" "?" "Russia" "" "0" "" "" "Russia-Slavonia" "P010"
"00365173" "" "" "" "1" "" "01695" "{PMID:Zolnikova 2017:27939946}" "" "F" "?" "Russia" "" "0" "" "" "Russia-Slavonia" "P011"
"00365174" "" "" "" "1" "" "01695" "{PMID:Zolnikova 2017:27939946}" "" "F" "?" "Russia" "" "0" "" "" "Russia-Slavonia" "P012"
"00365175" "" "" "" "1" "" "01695" "{PMID:Zolnikova 2017:27939946}" "" "M" "?" "Russia" "" "0" "" "" "Russia-Slavonia" "P013"
"00365176" "" "" "" "1" "" "01695" "{PMID:Zolnikova 2017:27939946}" "" "M" "?" "Russia" "" "0" "" "" "Russia-Slavonia" "P014"
"00365177" "" "" "" "1" "" "01695" "{PMID:Zolnikova 2017:27939946}" "" "M" "?" "Russia" "" "0" "" "" "Hebrew" "P015"
"00365178" "" "" "" "1" "" "01695" "{PMID:Zolnikova 2017:27939946}" "" "F" "?" "Russia" "" "0" "" "" "Ukrain" "P016"
"00365179" "" "" "" "1" "" "01695" "{PMID:Zolnikova 2017:27939946}" "" "M" "?" "Russia" "" "0" "" "" "Russia-Slavonia" "P017"
"00365180" "" "" "" "1" "" "01695" "{PMID:Zolnikova 2017:27939946}" "" "M" "?" "Russia" "" "0" "" "" "Belarus" "P018"
"00365181" "" "" "" "1" "" "01695" "{PMID:Zolnikova 2017:27939946}" "" "F" "?" "Russia" "" "0" "" "" "Belarus" "P020"
"00365182" "" "" "" "1" "" "01695" "{PMID:Zolnikova 2017:27939946}" "" "F" "?" "Russia" "" "0" "" "" "Tatar" "P021"
"00365183" "" "" "" "1" "" "01695" "{PMID:Zolnikova 2017:27939946}" "" "F" "?" "Russia" "" "0" "" "" "Russia-Slavonia" "P022"
"00365184" "" "" "" "1" "" "01695" "{PMID:Zolnikova 2017:27939946}" "" "M" "?" "Russia" "" "0" "" "" "Ukrain" "P023"
"00365185" "" "" "" "1" "" "01695" "{PMID:Zolnikova 2017:27939946}" "" "F" "?" "Russia" "" "0" "" "" "Russian;Hebrew" "P025"
"00365186" "" "" "" "1" "" "01695" "{PMID:Zolnikova 2017:27939946}" "" "M" "?" "Russia" "" "0" "" "" "Russia-Slavonia" "P026"
"00365187" "" "" "" "1" "" "01695" "{PMID:Zolnikova 2017:27939946}" "" "M" "?" "Russia" "" "0" "" "" "Moldavia" "P027"
"00365188" "" "" "" "1" "" "01695" "{PMID:Zolnikova 2017:27939946}" "" "F" "?" "Russia" "" "0" "" "" "Russia-Slavonia" "P032"
"00365189" "" "" "" "1" "" "01695" "{PMID:Zolnikova 2017:27939946}" "" "M" "?" "Russia" "" "0" "" "" "Russia-Slavonia" "P033"
"00365190" "" "" "" "1" "" "01695" "{PMID:Zolnikova 2017:27939946}" "" "F" "?" "Russia" "" "0" "" "" "Russia-Slavonia" "P035"
"00365191" "" "" "" "1" "" "01695" "{PMID:Zolnikova 2017:27939946}" "" "M" "?" "Russia" "" "0" "" "" "Russia-Slavonia" "P037"
"00365192" "" "" "" "1" "" "01695" "{PMID:Zolnikova 2017:27939946}" "" "M" "?" "Russia" "" "0" "" "" "Ukrain" "P039"
"00365193" "" "" "" "1" "" "01695" "{PMID:Zolnikova 2017:27939946}" "" "F" "?" "Russia" "" "0" "" "" "Russia-Slavonia" "P040"
"00365194" "" "" "" "1" "" "01695" "{PMID:Zolnikova 2017:27939946}" "" "M" "?" "Russia" "" "0" "" "" "Dagestan" "P043"
"00365195" "" "" "" "1" "" "01695" "{PMID:Zolnikova 2017:27939946}" "" "M" "?" "Russia" "" "0" "" "" "Mordvin" "P044"
"00365196" "" "" "" "1" "" "01695" "{PMID:Zolnikova 2017:27939946}" "" "M" "?" "Russia" "" "0" "" "" "Russia-Slavonia" "P046"
"00365197" "" "" "" "1" "" "01695" "{PMID:Zolnikova 2017:27939946}" "" "F" "?" "Russia" "" "0" "" "" "Hebrew" "P049"
"00365198" "" "" "" "1" "" "01695" "{PMID:Zolnikova 2017:27939946}" "" "F" "?" "Russia" "" "0" "" "" "Russia-Slavonia" "P050"
"00365199" "" "" "" "1" "" "01695" "{PMID:Lambertus 2016:28002570}" "50% of patients were M and 50% F" "" "?" "Netherlands" "" "0" "" "" "" "3"
"00365200" "" "" "" "1" "" "01695" "{PMID:Lambertus 2016:28002570}" "50% of patients were M and 50% F" "" "?" "Netherlands" "" "0" "" "" "" "11"
"00365201" "" "" "" "1" "" "01695" "{PMID:Lambertus 2016:28002570}" "50% of patients were M and 50% F" "" "?" "Netherlands" "" "0" "" "" "" "12"
"00365202" "" "" "" "1" "" "01695" "{PMID:Lambertus 2016:28002570}" "50% of patients were M and 50% F" "" "?" "Netherlands" "" "0" "" "" "" "13"
"00365203" "" "" "" "1" "" "01695" "{PMID:Lambertus 2016:28002570}" "50% of patients were M and 50% F" "" "?" "Netherlands" "" "0" "" "" "" "16"
"00365204" "" "" "" "1" "" "01695" "{PMID:Lambertus 2016:28002570}" "50% of patients were M and 50% F" "" "?" "Netherlands" "" "0" "" "" "" "18"
"00365205" "" "" "" "1" "" "01695" "{PMID:Lambertus 2016:28002570}" "50% of patients were M and 50% F" "" "?" "Netherlands" "" "0" "" "" "" "19"
"00365206" "" "" "" "1" "" "01695" "{PMID:Lambertus 2016:28002570}" "50% of patients were M and 50% F" "" "?" "Netherlands" "" "0" "" "" "" "20"
"00365207" "" "" "" "1" "" "01695" "{PMID:Lambertus 2016:28002570}" "50% of patients were M and 50% F" "" "?" "Netherlands" "" "0" "" "" "" "21"
"00365208" "" "" "" "1" "" "01695" "{PMID:Lambertus 2016:28002570}" "50% of patients were M and 50% F" "" "?" "Netherlands" "" "0" "" "" "" "22"
"00365209" "" "" "" "1" "" "01695" "{PMID:Lambertus 2016:28002570}" "50% of patients were M and 50% F" "" "?" "Netherlands" "" "0" "" "" "" "23"
"00365210" "" "" "" "1" "" "01695" "{PMID:Lambertus 2016:28002570}" "50% of patients were M and 50% F" "" "?" "Netherlands" "" "0" "" "" "" "24"
"00365211" "" "" "" "1" "" "01695" "{PMID:Lambertus 2016:28002570}" "50% of patients were M and 50% F" "" "?" "Netherlands" "" "0" "" "" "" "26"
"00365212" "" "" "" "1" "" "01695" "{PMID:Lambertus 2016:28002570}" "50% of patients were M and 50% F" "" "?" "Netherlands" "" "0" "" "" "" "28"
"00365213" "" "" "" "1" "" "01695" "{PMID:Lambertus 2016:28002570}" "50% of patients were M and 50% F" "" "?" "Netherlands" "" "0" "" "" "" "31"
"00365214" "" "" "" "1" "" "01695" "{PMID:Lambertus 2016:28002570}" "50% of patients were M and 50% F" "" "?" "Netherlands" "" "0" "" "" "" "32"
"00365215" "" "" "" "1" "" "01695" "{PMID:Lambertus 2016:28002570}" "50% of patients were M and 50% F" "" "?" "Netherlands" "" "0" "" "" "" "33"
"00365216" "" "" "" "1" "" "01695" "{PMID:Lambertus 2016:28002570}" "50% of patients were M and 50% F" "" "?" "Netherlands" "" "0" "" "" "" "34"
"00365217" "" "" "" "1" "" "01695" "{PMID:Lambertus 2016:28002570}" "50% of patients were M and 50% F" "" "?" "Netherlands" "" "0" "" "" "" "35"
"00365218" "" "" "" "1" "" "01695" "{PMID:Lambertus 2016:28002570}" "50% of patients were M and 50% F" "" "?" "Netherlands" "" "0" "" "" "" "37"
"00365219" "" "" "" "1" "" "01695" "{PMID:Lambertus 2016:28002570}" "50% of patients were M and 50% F" "" "?" "Netherlands" "" "0" "" "" "" "38"
"00365220" "" "" "" "1" "" "01695" "{PMID:Lambertus 2016:28002570}" "50% of patients were M and 50% F" "" "?" "Netherlands" "" "0" "" "" "" "45"
"00365221" "" "" "" "1" "" "01695" "{PMID:Lambertus 2016:28002570}" "50% of patients were M and 50% F" "" "?" "Netherlands" "" "0" "" "" "" "46"
"00365222" "" "" "" "1" "" "01695" "{PMID:Lambertus 2016:28002570}" "50% of patients were M and 50% F" "" "?" "Netherlands" "" "0" "" "" "" "47"
"00365223" "" "" "" "1" "" "01695" "{PMID:Lambertus 2016:28002570}" "50% of patients were M and 50% F" "" "?" "Netherlands" "" "0" "" "" "" "48"
"00365224" "" "" "" "1" "" "01695" "{PMID:Lambertus 2016:28002570}" "50% of patients were M and 50% F" "" "?" "Netherlands" "" "0" "" "" "" "49"
"00365225" "" "" "" "1" "" "01695" "{PMID:Lambertus 2016:28002570}" "50% of patients were M and 50% F" "" "?" "Netherlands" "" "0" "" "" "" "50"
"00365226" "" "" "" "1" "" "01695" "{PMID:Lambertus 2016:28002570}" "50% of patients were M and 50% F" "" "?" "Netherlands" "" "0" "" "" "" "56"
"00365227" "" "" "" "1" "" "01695" "{PMID:Lambertus 2016:28002570}" "50% of patients were M and 50% F" "" "?" "Netherlands" "" "0" "" "" "" "57"
"00365228" "" "" "" "1" "" "01695" "{PMID:Lambertus 2016:28002570}" "50% of patients were M and 50% F" "" "?" "Netherlands" "" "0" "" "" "" "58"
"00365229" "" "" "" "1" "" "01695" "{PMID:Lambertus 2016:28002570}" "50% of patients were M and 50% F" "" "?" "Netherlands" "" "0" "" "" "" "61"
"00365230" "" "" "" "1" "" "01695" "{PMID:Lambertus 2016:28002570}" "50% of patients were M and 50% F" "" "?" "Netherlands" "" "0" "" "" "" "62"
"00365231" "" "" "" "1" "" "01695" "{PMID:Lambertus 2016:28002570}" "50% of patients were M and 50% F" "" "?" "Netherlands" "" "0" "" "" "" "63"
"00365232" "" "" "" "1" "" "01695" "{PMID:Lambertus 2016:28002570}" "50% of patients were M and 50% F" "" "?" "Netherlands" "" "0" "" "" "" "64"
"00365233" "" "" "" "1" "" "01695" "{PMID:Lambertus 2016:28002570}" "50% of patients were M and 50% F" "" "?" "Netherlands" "" "0" "" "" "" "66"
"00365234" "" "" "" "1" "" "01695" "{PMID:Lambertus 2016:28002570}" "50% of patients were M and 50% F" "" "?" "Netherlands" "" "0" "" "" "" "67"
"00365235" "" "" "" "1" "" "01695" "{PMID:Lambertus 2016:28002570}" "50% of patients were M and 50% F" "" "?" "Netherlands" "" "0" "" "" "" "68"
"00365236" "" "" "" "1" "" "01695" "{PMID:Ramkumar 2017:28005406}" "" "" "?" "United States" "" "0" "" "" "" "Unknown 344"
"00365237" "" "" "" "1" "" "01695" "{PMID:Ramkumar 2017:28005406}" "" "" "?" "United States" "" "0" "" "" "" "Unknown 345"
"00365238" "" "" "" "1" "" "01695" "{PMID:Ramkumar 2017:28005406}" "" "" "?" "United States" "" "0" "" "" "" "Unknown 346"
"00365239" "" "" "" "1" "" "01695" "{PMID:Ramkumar 2017:28005406}" "" "" "?" "United States" "" "0" "" "" "" "Unknown 347"
"00365240" "" "" "" "1" "" "01695" "{PMID:Ramkumar 2017:28005406}" "" "" "?" "United States" "" "0" "" "" "" "Unknown 348"
"00365241" "" "" "" "1" "" "01695" "{PMID:Ramkumar 2017:28005406}" "" "" "?" "United States" "" "0" "" "" "" "Unknown 349"
"00365242" "" "" "" "1" "" "01695" "{PMID:Ramkumar 2017:28005406}" "" "" "?" "United States" "" "0" "" "" "" "Unknown 350"
"00365243" "" "" "" "1" "" "01695" "{PMID:Ramkumar 2017:28005406}" "" "" "?" "United States" "" "0" "" "" "" "Unknown 351"
"00365244" "" "" "" "1" "" "01695" "{PMID:Ramkumar 2017:28005406}" "" "" "?" "United States" "" "0" "" "" "" "Unknown 352"
"00365245" "" "" "" "1" "" "01695" "{PMID:Ramkumar 2017:28005406}" "" "" "?" "United States" "" "0" "" "" "" "Unknown 353"
"00365246" "" "" "" "1" "" "01695" "{PMID:Ramkumar 2017:28005406}" "" "" "?" "United States" "" "0" "" "" "" "Unknown 354"
"00365247" "" "" "" "1" "" "01695" "{PMID:Ramkumar 2017:28005406}" "" "" "?" "United States" "" "0" "" "" "" "Unknown 355"
"00365248" "" "" "" "1" "" "01695" "{PMID:Ramkumar 2017:28005406}" "" "" "?" "United States" "" "0" "" "" "" "Unknown 356"
"00365249" "" "" "" "1" "" "01695" "{PMID:Ramkumar 2017:28005406}" "" "" "?" "United States" "" "0" "" "" "" "Unknown 357"
"00365250" "" "" "" "1" "" "01695" "{PMID:Ramkumar 2017:28005406}" "" "" "?" "United States" "" "0" "" "" "" "Unknown 358"
"00365251" "" "" "" "1" "" "01695" "{PMID:Ramkumar 2017:28005406}" "" "" "?" "United States" "" "0" "" "" "" "Unknown 359"
"00365252" "" "" "" "1" "" "01695" "{PMID:Ramkumar 2017:28005406}" "" "" "?" "United States" "" "0" "" "" "" "Unknown 360"
"00365253" "" "" "" "1" "" "01695" "{PMID:Ramkumar 2017:28005406}" "" "" "?" "United States" "" "0" "" "" "" "Unknown 361"
"00365254" "" "" "" "1" "" "01695" "{PMID:Ramkumar 2017:28005406}" "" "" "?" "United States" "" "0" "" "" "" "Unknown 362"
"00365255" "" "" "" "1" "" "01695" "{PMID:Ramkumar 2017:28005406}" "" "" "?" "United States" "" "0" "" "" "" "Unknown 363"
"00365256" "" "" "" "1" "" "01695" "{PMID:Ramkumar 2017:28005406}" "" "" "?" "United States" "" "0" "" "" "" "Unknown 364"
"00365257" "" "" "" "1" "" "01695" "{PMID:Ramkumar 2017:28005406}" "" "" "?" "United States" "" "0" "" "" "" "Unknown 365"
"00365258" "" "" "" "1" "" "01695" "{PMID:Ramkumar 2017:28005406}" "" "" "?" "United States" "" "0" "" "" "" "Unknown 366"
"00365259" "" "" "" "1" "" "01695" "{PMID:Ramkumar 2017:28005406}" "" "" "?" "United States" "" "0" "" "" "" "Unknown 367"
"00365260" "" "" "" "1" "" "01695" "{PMID:Ramkumar 2017:28005406}" "" "" "?" "United States" "" "0" "" "" "" "Unknown 368"
"00365261" "" "" "" "1" "" "01695" "{PMID:Ramkumar 2017:28005406}" "" "" "?" "United States" "" "0" "" "" "" "Unknown 369"
"00365262" "" "" "" "1" "" "01695" "{PMID:Ramkumar 2017:28005406}" "" "" "?" "United States" "" "0" "" "" "" "Unknown 370"
"00365263" "" "" "" "1" "" "01695" "{PMID:Zhang 2016:28050124}" "sibling of K206–1 and K206–3" "F" "?" "China" "" "0" "" "" "China" "K206–2"
"00365264" "" "" "" "1" "" "01695" "{PMID:Zhang 2016:28050124}" "sibling of K206–2 and K206–3" "M" "?" "China" "" "0" "" "" "China" "K206–1"
"00365265" "" "" "" "1" "" "01695" "{PMID:Zhang 2016:28050124}" "sibling of K206–1 and K206–2" "M" "?" "China" "" "0" "" "" "China" "K206–3"
"00365266" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 371"
"00365267" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 372"
"00365268" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 373"
"00365269" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 374"
"00365270" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 375"
"00365271" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 376"
"00365272" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 377"
"00365273" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 378"
"00365274" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 379"
"00365275" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 380"
"00365276" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 381"
"00365277" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 382"
"00365278" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 383"
"00365279" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 384"
"00365280" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 385"
"00365281" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 386"
"00365282" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 387"
"00365283" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 388"
"00365284" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 389"
"00365285" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 390"
"00365286" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 391"
"00365287" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 392"
"00365288" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 393"
"00365289" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 394"
"00365290" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 395"
"00365291" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 396"
"00365292" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 397"
"00365293" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 398"
"00365294" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 399"
"00365295" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 400"
"00365296" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 401"
"00365297" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 402"
"00365298" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 403"
"00365299" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 404"
"00365300" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 405"
"00365301" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 406"
"00365302" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 407"
"00365303" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 408"
"00365304" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 409"
"00365305" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 410"
"00365306" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 411"
"00365307" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 412"
"00365308" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 413"
"00365309" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 414"
"00365310" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 415"
"00365311" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 416"
"00365312" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 417"
"00365313" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 418"
"00365314" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 419"
"00365315" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 420"
"00365316" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 421"
"00365317" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 422"
"00365318" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 423"
"00365319" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 424"
"00365320" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 425"
"00365321" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 426"
"00365322" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 427"
"00365323" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 428"
"00365324" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 429"
"00365325" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 430"
"00365326" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 431"
"00365327" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 432"
"00365328" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 433"
"00365329" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 434"
"00365330" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 435"
"00365331" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 436"
"00365332" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 437"
"00365333" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 438"
"00365334" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 439"
"00365335" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 440"
"00365336" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 441"
"00365337" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 442"
"00365338" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 443"
"00365339" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 444"
"00365340" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 445"
"00365341" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 446"
"00365342" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 447"
"00365343" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 448"
"00365344" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 449"
"00365345" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 450"
"00365346" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 451"
"00365347" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 452"
"00365348" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 453"
"00365349" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 454"
"00365350" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 455"
"00365351" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 456"
"00365352" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 457"
"00365353" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 458"
"00365354" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 459"
"00365355" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 460"
"00365356" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 461"
"00365357" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 462"
"00365358" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 463"
"00365359" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 464"
"00365360" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 465"
"00365361" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 466"
"00365362" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 467"
"00365363" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 468"
"00365364" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 469"
"00365365" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 470"
"00365366" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 471"
"00365367" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 472"
"00365368" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 473"
"00365369" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 474"
"00365370" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 475"
"00365371" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 476"
"00365372" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 477"
"00365373" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 478"
"00365374" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 479"
"00365375" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 480"
"00365376" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 481"
"00365377" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 482"
"00365378" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 483"
"00365379" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 484"
"00365380" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 485"
"00365381" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 486"
"00365382" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 487"
"00365383" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 488"
"00365384" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 489"
"00365385" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 490"
"00365386" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 491"
"00365387" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 492"
"00365388" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 493"
"00365389" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 494"
"00365390" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 495"
"00365391" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 496"
"00365392" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 497"
"00365393" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 498"
"00365394" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 499"
"00365395" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 500"
"00365396" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 501"
"00365397" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 502"
"00365398" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 503"
"00365399" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 504"
"00365400" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 505"
"00365401" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 506"
"00365402" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 507"
"00365403" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 508"
"00365404" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 509"
"00365405" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 510"
"00365406" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 511"
"00365407" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 512"
"00365408" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 513"
"00365409" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 514"
"00365410" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 515"
"00365411" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 516"
"00365412" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 517"
"00365413" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 518"
"00365414" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 519"
"00365415" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 520"
"00365416" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 521"
"00365417" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 522"
"00365418" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 523"
"00365419" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 524"
"00365420" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 525"
"00365421" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 526"
"00365422" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 527"
"00365423" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 528"
"00365424" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 529"
"00365425" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 530"
"00365426" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 531"
"00365427" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 532"
"00365428" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 533"
"00365429" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 534"
"00365430" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 535"
"00365431" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 536"
"00365432" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 537"
"00365433" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 538"
"00365434" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 539"
"00365435" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 540"
"00365436" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 541"
"00365437" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 542"
"00365438" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 543"
"00365439" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 545"
"00365440" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 546"
"00365441" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 547"
"00365442" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 548"
"00365443" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 549"
"00365444" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 550"
"00365445" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 551"
"00365446" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 552"
"00365447" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 553"
"00365448" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 554"
"00365449" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 555"
"00365450" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 556"
"00365451" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 557"
"00365452" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 558"
"00365453" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 559"
"00365454" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 560"
"00365455" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 561"
"00365456" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 562"
"00365457" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 563"
"00365458" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 564"
"00365459" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 565"
"00365460" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 566"
"00365461" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 567"
"00365462" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 568"
"00365463" "" "" "" "1" "" "01695" "{PMID:Schulz 2017:28118664}" "191 F, 144 M in this study" "" "?" "Germany" "" "0" "" "" "" "Unknown 569"
"00365464" "" "" "" "1" "" "01695" "{PMID:Rizzo 2017:28121212}" "" "F" "?" "Italy" "" "0" "" "" "" "Unknown 570"
"00365465" "" "" "" "1" "" "01695" "{PMID:Biswas 2017:28130426}" "Sibling of Ped.2 III:II. RPE65, c.746A>G; p.Tyr249Cys (rs373652862) and c.1451G>A; p.Gly484Asp (rs62653015) were also detected in this patient" "M" "yes" "" "" "0" "" "" "Pakistan" "Pedigree 2 III-I"
"00365466" "" "" "" "1" "" "01695" "{PMID:Biswas 2017:28130426}" "Sibling of Ped.2 III:I. RPE65, c.746A>G; p.Tyr249Cys (rs373652862) and c.1451G>A; p.Gly484Asp (rs62653015) were also detected in this patient" "M" "yes" "" "" "0" "" "" "Pakistan" "Pedigree 2 III-II"
"00365467" "" "" "" "1" "" "01695" "{PMID:Biswas 2017:28130426}" "Sibling of Ped. 3 III:II and III:III" "F" "no" "" "" "0" "" "" "white" "Pedigree 3 III-I"
"00365468" "" "" "" "1" "" "01695" "{PMID:Biswas 2017:28130426}" "Sibling of Ped. 3 III:I and III:III" "M" "no" "" "" "0" "" "" "white" "Pedigree 3 III-II"
"00365469" "" "" "" "1" "" "01695" "{PMID:Biswas 2017:28130426}" "Sibling of Ped. 3 III:I and III:II" "M" "no" "" "" "0" "" "" "white" "Pedigree 3 III-III"
"00365470" "" "" "" "1" "" "01695" "{PMID:Todorova 2017:28147405}" "" "" "?" "" "" "0" "" "" "" "Third family"
"00365471" "" "" "" "1" "" "01695" "{PMID:Bravo-Gil 2017:28157192}" "" "F" "?" "Spain" "" "0" "" "" "" "4"
"00365472" "" "" "" "1" "" "01695" "{PMID:Bravo-Gil 2017:28157192}" "" "F" "?" "Spain" "" "0" "" "" "" "84"
"00365473" "" "" "" "1" "" "01695" "{PMID:Bravo-Gil 2017:28157192}" "" "" "?" "Spain" "" "0" "" "" "" "113"
"00365474" "" "" "" "1" "" "01695" "{PMID:Bravo-Gil 2017:28157192}" "" "" "?" "Spain" "" "0" "" "" "" "89"
"00365475" "" "" "" "1" "" "01695" "{PMID:Bravo-Gil 2017:28157192}" "" "" "?" "Spain" "" "0" "" "" "" "90"
"00365476" "" "" "" "1" "" "01695" "{PMID:Bravo-Gil 2017:28157192}" "" "" "?" "Spain" "" "0" "" "" "" "98"
"00365477" "" "" "" "1" "" "01695" "{PMID:Bravo-Gil 2017:28157192}" "" "" "?" "Spain" "" "0" "" "" "" "64"
"00365478" "" "" "" "1" "" "01695" "{PMID:Klufas 2017:28248825}" "" "F" "?" "United States" "" "0" "" "" "" "4"
"00365479" "" "" "" "1" "" "01695" "{PMID:Klufas 2017:28248825}" "" "F" "?" "United States" "" "0" "" "" "" "9"
"00365480" "" "" "" "1" "" "01695" "{PMID:Klufas 2017:28248825}" "" "M" "?" "United States" "" "0" "" "" "" "10"
"00365481" "" "" "" "1" "" "01695" "{PMID:Klufas 2017:28248825}" "" "F" "?" "United States" "" "0" "" "" "" "12"
"00365482" "" "" "" "1" "" "01695" "{PMID:Klufas 2017:28248825}" "" "F" "?" "United States" "" "0" "" "" "" "13"
"00365483" "" "" "" "1" "" "01695" "{PMID:Klufas 2017:28248825}" "" "M" "?" "United States" "" "0" "" "" "" "17"
"00365484" "" "" "" "1" "" "01695" "{PMID:Klufas 2017:28248825}" "" "F" "?" "United States" "" "0" "" "" "" "29"
"00365485" "" "" "" "1" "" "01695" "{PMID:Klufas 2017:28248825}" "" "F" "?" "United States" "" "0" "" "" "" "1"
"00365486" "" "" "" "1" "" "01695" "{PMID:Klufas 2017:28248825}" "" "M" "?" "United States" "" "0" "" "" "" "2"
"00365487" "" "" "" "1" "" "01695" "{PMID:Klufas 2017:28248825}" "" "F" "?" "United States" "" "0" "" "" "" "5"
"00365488" "" "" "" "1" "" "01695" "{PMID:Klufas 2017:28248825}" "" "F" "?" "United States" "" "0" "" "" "" "8"
"00365489" "" "" "" "1" "" "01695" "{PMID:Klufas 2017:28248825}" "" "M" "?" "United States" "" "0" "" "" "" "11"
"00365490" "" "" "" "1" "" "01695" "{PMID:Klufas 2017:28248825}" "" "M" "?" "United States" "" "0" "" "" "" "15"
"00365491" "" "" "" "1" "" "01695" "{PMID:Klufas 2017:28248825}" "" "M" "?" "United States" "" "0" "" "" "" "16"
"00365492" "" "" "" "1" "" "01695" "{PMID:Klufas 2017:28248825}" "" "F" "?" "United States" "" "0" "" "" "" "3"
"00365493" "" "" "" "1" "" "01695" "{PMID:Klufas 2017:28248825}" "" "F" "?" "United States" "" "0" "" "" "" "6"
"00365494" "" "" "" "1" "" "01695" "{PMID:Klufas 2017:28248825}" "" "F" "?" "United States" "" "0" "" "" "" "19"
"00365495" "" "" "" "1" "" "01695" "{PMID:Klufas 2017:28248825}" "" "M" "?" "United States" "" "0" "" "" "" "24"
"00365496" "" "" "" "1" "" "01695" "{PMID:Klufas 2017:28248825}" "" "M" "?" "United States" "" "0" "" "" "" "14"
"00365497" "" "" "" "1" "" "01695" "{PMID:Klufas 2017:28248825}" "" "F" "?" "United States" "" "0" "" "" "" "27"
"00365498" "" "" "" "1" "" "01695" "{PMID:Klufas 2017:28248825}" "" "M" "?" "United States" "" "0" "" "" "" "7"
"00365499" "" "" "" "1" "" "01695" "{PMID:Klufas 2017:28248825}" "" "F" "?" "United States" "" "0" "" "" "" "18"
"00365500" "" "" "" "1" "" "01695" "{PMID:Klufas 2017:28248825}" "" "F" "?" "United States" "" "0" "" "" "" "22"
"00365501" "" "" "" "1" "" "01695" "{PMID:Klufas 2017:28248825}" "" "F" "?" "United States" "" "0" "" "" "" "23"
"00365502" "" "" "" "1" "" "01695" "{PMID:Klufas 2017:28248825}" "" "M" "?" "United States" "" "0" "" "" "" "26"
"00365503" "" "" "" "1" "" "01695" "{PMID:Klufas 2017:28248825}" "" "F" "?" "United States" "" "0" "" "" "" "28"
"00365504" "" "" "" "1" "" "01695" "{PMID:Klufas 2017:28248825}" "" "F" "?" "United States" "" "0" "" "" "" "20"
"00365505" "" "" "" "1" "" "01695" "{PMID:Klufas 2017:28248825}" "" "F" "?" "United States" "" "0" "" "" "" "21"
"00365506" "" "" "" "1" "" "01695" "{PMID:Klufas 2017:28248825}" "" "F" "?" "United States" "" "0" "" "" "" "25"
"00365507" "" "" "" "1" "" "01695" "{PMID:Lee 2017:28327576}" "" "F" "?" "" "" "0" "" "" "India;Africa" "90137"
"00365508" "" "" "" "1" "" "01695" "{PMID:Lee 2017:28327576}" "" "M" "?" "" "" "0" "" "" "India" "90138"
"00365509" "" "" "" "1" "" "01695" "{PMID:Lee 2017:28327576}" "" "M" "?" "" "" "0" "" "" "India;China" "76832"
"00365510" "" "" "" "1" "" "01695" "{PMID:Lee 2017:28327576}" "" "M" "?" "" "" "0" "" "" "Sri Lanka" "76828"
"00365511" "" "" "" "1" "" "01695" "{PMID:Lee 2017:28327576}" "" "M" "?" "" "" "0" "" "" "India" "90139"
"00365512" "" "" "" "1" "" "01695" "{PMID:Lee 2017:28327576}" "" "M" "?" "" "" "0" "" "" "India" "90140"
"00365513" "" "" "" "1" "" "01695" "{PMID:Lee 2017:28327576}" "" "F" "?" "" "" "0" "" "" "India" "90141"
"00365514" "" "" "" "1" "" "01695" "{PMID:Lee 2017:28327576}" "" "M" "?" "" "" "0" "" "" "India" "90142"
"00365515" "" "" "" "1" "" "01695" "{PMID:Lee 2017:28327576}" "" "M" "?" "" "" "0" "" "" "India" "76910"
"00365516" "" "" "" "1" "" "01695" "{PMID:Lee 2017:28327576}" "" "M" "?" "" "" "0" "" "" "India" "90143"
"00365517" "" "" "" "1" "" "01695" "{PMID:Lee 2017:28327576}" "" "F" "?" "" "" "0" "" "" "India" "90144"
"00365518" "" "" "" "1" "" "01695" "{PMID:Lee 2017:28327576}" "" "F" "?" "" "" "0" "" "" "India" "90146"
"00365519" "" "" "" "1" "" "01695" "{PMID:Lee 2017:28327576}" "" "M" "?" "" "" "0" "" "" "Bangladesh" "78017"
"00365520" "" "" "" "1" "" "01695" "{PMID:Lee 2017:28327576}" "" "F" "?" "" "" "0" "" "" "India" "90147"
"00365521" "" "" "" "1" "" "01695" "{PMID:Lee 2017:28327576}" "" "F" "?" "" "" "0" "" "" "India;Italy" "90148"
"00365522" "" "" "" "1" "" "01695" "{PMID:Lee 2017:28327576}" "" "F" "?" "" "" "0" "" "" "India" "90149"
"00365523" "" "" "" "1" "" "01695" "{PMID:Lee 2017:28327576}" "" "M" "?" "" "" "0" "" "" "India" "90151"
"00365524" "" "" "" "1" "" "01695" "{PMID:Lee 2017:28327576}" "" "M" "?" "" "" "0" "" "" "India" "90152"
"00365525" "" "" "" "1" "" "01695" "{PMID:Lee 2017:28327576}" "" "F" "?" "" "" "0" "" "" "India" "90153"
"00365526" "" "" "" "1" "" "01695" "{PMID:Lee 2017:28327576}" "" "M" "?" "" "" "0" "" "" "India" "90154"
"00365527" "" "" "" "1" "" "01695" "{PMID:Lee 2017:28327576}" "" "M" "?" "" "" "0" "" "" "Pakistan" "90155"
"00365528" "" "" "" "1" "" "01695" "{PMID:Lee 2017:28327576}" "" "M" "?" "" "" "0" "" "" "India" "90157"
"00365529" "" "" "" "1" "" "01695" "{PMID:Lee 2017:28327576}{PMID:Zernant 2017:28446513}" "" "M" "?" "" "" "0" "" "" "India" "90158; 3097"
"00365530" "" "" "" "1" "" "01695" "{PMID:Lee 2017:28327576}" "" "F" "?" "" "" "0" "" "" "India" "90159"
"00365531" "" "" "" "1" "" "01695" "{PMID:Lee 2017:28327576}" "" "F" "?" "" "" "0" "" "" "India" "90161"
"00365532" "" "" "" "1" "" "01695" "{PMID:Lee 2017:28327576}" "" "F" "?" "" "" "0" "" "" "Pakistan" "90162"
"00365533" "" "" "" "1" "" "01695" "{PMID:Lee 2017:28327576}" "" "F" "?" "" "" "0" "" "" "India" "90163"
"00365534" "" "" "" "1" "" "01695" "{PMID:Lee 2017:28327576}" "" "F" "?" "" "" "0" "" "" "India" "76834"
"00365535" "" "" "" "1" "" "01695" "{PMID:Lee 2017:28327576}" "" "F" "?" "" "" "0" "" "" "Pakistan" "90165"
"00365536" "" "" "" "1" "" "01695" "{PMID:Lee 2017:28327576}" "" "M" "?" "" "" "0" "" "" "India" "76906"
"00365537" "" "" "" "1" "" "01695" "{PMID:Lee 2017:28327576}" "" "F" "?" "" "" "0" "" "" "India" "90166"
"00365538" "" "" "" "1" "" "01695" "{PMID:Lee 2017:28327576}" "" "F" "?" "" "" "0" "" "" "India" "90167"
"00365539" "" "" "" "1" "" "01695" "{PMID:Lee 2017:28327576}" "" "F" "?" "" "" "0" "" "" "Pakistan" "90168"
"00365540" "" "" "" "1" "" "01695" "{PMID:Lee 2017:28327576}" "Parent-child pair with 76839" "F" "?" "" "" "0" "" "" "India" "76840"
"00365541" "" "" "" "1" "" "01695" "{PMID:Lee 2017:28327576}" "Parent-child pair with 76840" "M" "?" "" "" "0" "" "" "India" "76839"
"00365542" "" "" "" "1" "" "01695" "{PMID:Lee 2017:28327576}" "Sibling of 90169" "F" "?" "" "" "0" "" "" "India;Morocco" "90169"
"00365543" "" "" "" "1" "" "01695" "{PMID:Lee 2017:28327576}" "Sibling of 90170" "F" "?" "" "" "0" "" "" "India;Morocco" "90170"
"00365544" "" "" "" "1" "" "01695" "{PMID:Taylor 2017:28341476}" "" "M" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "16004627"
"00365545" "" "" "" "1" "" "01695" "{PMID:Taylor 2017:28341476}" "" "F" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "16007485"
"00365546" "" "" "" "1" "" "01695" "{PMID:Taylor 2017:28341476}" "" "M" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "14000070"
"00365547" "" "" "" "1" "" "01695" "{PMID:Taylor 2017:28341476}" "" "F" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "16015488"
"00365548" "" "" "" "1" "" "01695" "{PMID:Taylor 2017:28341476}" "" "F" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "15004872"
"00365549" "" "" "" "1" "" "01695" "{PMID:Taylor 2017:28341476}" "" "M" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "15018483"
"00365550" "" "" "" "1" "" "01695" "{PMID:Taylor 2017:28341476}" "" "F" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "12000333"
"00365551" "" "" "" "1" "" "01695" "{PMID:Taylor 2017:28341476}" "" "M" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "15012704"
"00365552" "" "" "" "1" "" "01695" "{PMID:Taylor 2017:28341476}" "" "M" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "71216"
"00365553" "" "" "" "1" "" "01695" "{PMID:Taylor 2017:28341476}" "" "M" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "15006436"
"00365554" "" "" "" "1" "" "01695" "{PMID:Taylor 2017:28341476}" "" "M" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "12011773"
"00365555" "" "" "" "1" "" "01695" "{PMID:Taylor 2017:28341476}" "" "M" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "15014171"
"00365556" "" "" "" "1" "" "01695" "{PMID:Taylor 2017:28341476}" "" "M" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "14007937"
"00365557" "" "" "" "1" "" "01695" "{PMID:Lambertus 2017:28355279}" "" "M" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH 1"
"00365558" "" "" "" "1" "" "01695" "{PMID:Lambertus 2017:28355279}" "" "M" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH 10"
"00365559" "" "" "" "1" "" "01695" "{PMID:Lambertus 2017:28355279}" "" "F" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH 11"
"00365560" "" "" "" "1" "" "01695" "{PMID:Lambertus 2017:28355279}" "" "F" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH 12"
"00365561" "" "" "" "1" "" "01695" "{PMID:Lambertus 2017:28355279}" "" "M" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH 13"
"00365562" "" "" "" "1" "" "01695" "{PMID:Lambertus 2017:28355279}" "" "M" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH 14"
"00365563" "" "" "" "1" "" "01695" "{PMID:Lambertus 2017:28355279}" "" "F" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH 15"
"00365564" "" "" "" "1" "" "01695" "{PMID:Lambertus 2017:28355279}" "" "F" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH 16"
"00365565" "" "" "" "1" "" "01695" "{PMID:Lambertus 2017:28355279}" "" "M" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH 17"
"00365566" "" "" "" "1" "" "01695" "{PMID:Lambertus 2017:28355279}" "" "M" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH 18"
"00365567" "" "" "" "1" "" "01695" "{PMID:Lambertus 2017:28355279}" "" "F" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH 2"
"00365568" "" "" "" "1" "" "01695" "{PMID:Lambertus 2017:28355279}" "" "M" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH 3"
"00365569" "" "" "" "1" "" "01695" "{PMID:Lambertus 2017:28355279}" "" "F" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH 4"
"00365570" "" "" "" "1" "" "01695" "{PMID:Lambertus 2017:28355279}" "" "M" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH 5"
"00365571" "" "" "" "1" "" "01695" "{PMID:Lambertus 2017:28355279}" "" "F" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH 6"
"00365572" "" "" "" "1" "" "01695" "{PMID:Lambertus 2017:28355279}" "" "M" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH 7"
"00365573" "" "" "" "1" "" "01695" "{PMID:Lambertus 2017:28355279}" "" "M" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH 8"
"00365574" "" "" "" "1" "" "01695" "{PMID:Lambertus 2017:28355279}" "" "M" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH 9"
"00365575" "" "" "" "1" "" "01695" "{PMID:Lambertus 2017:28355279}" "" "M" "?" "Netherlands" "" "0" "" "" "" "Radboudumc 1"
"00365576" "" "" "" "1" "" "01695" "{PMID:Lambertus 2017:28355279}" "" "F" "?" "Netherlands" "" "0" "" "" "" "Radboudumc 10"
"00365577" "" "" "" "1" "" "01695" "{PMID:Lambertus 2017:28355279}" "" "M" "?" "Netherlands" "" "0" "" "" "" "Radboudumc 11"
"00365578" "" "" "" "1" "" "01695" "{PMID:Lambertus 2017:28355279}" "" "M" "?" "Netherlands" "" "0" "" "" "" "Radboudumc 14"
"00365579" "" "" "" "1" "" "01695" "{PMID:Lambertus 2017:28355279}" "" "F" "?" "Netherlands" "" "0" "" "" "" "Radboudumc 2"
"00365580" "" "" "" "1" "" "01695" "{PMID:Lambertus 2017:28355279}{PMID:Bax 2019:30903310}" "" "F" "?" "Netherlands" "" "0" "" "" "" "Radboudumc 3; 18"
"00365581" "" "" "" "1" "" "01695" "{PMID:Lambertus 2017:28355279}" "" "F" "?" "Netherlands" "" "0" "" "" "" "Radboudumc 4"
"00365582" "" "" "" "1" "" "01695" "{PMID:Lambertus 2017:28355279}" "" "M" "?" "Netherlands" "" "0" "" "" "" "Radboudumc 5"
"00365583" "" "" "" "1" "" "01695" "{PMID:Lambertus 2017:28355279}" "" "F" "?" "Netherlands" "" "0" "" "" "" "Radboudumc 6"
"00365584" "" "" "" "1" "" "01695" "{PMID:Lambertus 2017:28355279}" "" "M" "?" "Netherlands" "" "0" "" "" "" "Radboudumc 7"
"00365585" "" "" "" "1" "" "01695" "{PMID:Lambertus 2017:28355279}" "" "M" "?" "Netherlands" "" "0" "" "" "" "Radboudumc 8"
"00365586" "" "" "" "1" "" "01695" "{PMID:Lambertus 2017:28355279}" "" "F" "?" "Netherlands" "" "0" "" "" "" "Radboudumc 9"
"00365587" "" "" "" "1" "" "01695" "{PMID:Verdina 2017:28365912}" "" "" "?" "" "" "0" "" "" "" "1"
"00365588" "" "" "" "1" "" "01695" "{PMID:Verdina 2017:28365912}" "" "" "?" "" "" "0" "" "" "" "2"
"00365589" "" "" "" "1" "" "01695" "{PMID:Verdina 2017:28365912}" "" "" "?" "" "" "0" "" "" "" "3"
"00365590" "" "" "" "1" "" "01695" "{PMID:Verdina 2017:28365912}" "" "" "?" "" "" "0" "" "" "" "4"
"00365591" "" "" "" "1" "" "01695" "{PMID:Verdina 2017:28365912}" "" "" "?" "" "" "0" "" "" "" "5"
"00365592" "" "" "" "1" "" "01695" "{PMID:Verdina 2017:28365912}" "" "" "?" "" "" "0" "" "" "" "6"
"00365593" "" "" "" "1" "" "01695" "{PMID:Verdina 2017:28365912}" "" "" "?" "" "" "0" "" "" "" "7"
"00365594" "" "" "" "1" "" "01695" "{PMID:Verdina 2017:28365912}" "" "" "?" "" "" "0" "" "" "" "8"
"00365595" "" "" "" "1" "" "01695" "{PMID:Verdina 2017:28365912}" "" "" "?" "" "" "0" "" "" "" "9"
"00365596" "" "" "" "1" "" "01695" "{PMID:Verdina 2017:28365912}" "" "" "?" "" "" "0" "" "" "" "10"
"00365597" "" "" "" "1" "" "01695" "{PMID:Verdina 2017:28365912}" "" "" "?" "" "" "0" "" "" "" "11"
"00365598" "" "" "" "1" "" "01695" "{PMID:Verdina 2017:28365912}" "" "" "?" "" "" "0" "" "" "" "12"
"00365599" "" "" "" "1" "" "01695" "{PMID:Verdina 2017:28365912}" "" "" "?" "" "" "0" "" "" "" "13"
"00365600" "" "" "" "1" "" "01695" "{PMID:Verdina 2017:28365912}" "" "" "?" "" "" "0" "" "" "" "14"
"00365601" "" "" "" "1" "" "01695" "{PMID:Verdina 2017:28365912}" "" "" "?" "" "" "0" "" "" "" "15"
"00365602" "" "" "" "1" "" "01695" "{PMID:Verdina 2017:28365912}" "" "" "?" "" "" "0" "" "" "" "16"
"00365603" "" "" "" "1" "" "01695" "{PMID:Verdina 2017:28365912}" "" "" "?" "" "" "0" "" "" "" "17"
"00365604" "" "" "" "1" "" "01695" "{PMID:Verdina 2017:28365912}" "" "" "?" "" "" "0" "" "" "" "18"
"00365605" "" "" "" "1" "" "01695" "{PMID:Verdina 2017:28365912}" "" "" "?" "" "" "0" "" "" "" "19"
"00365606" "" "" "" "1" "" "01695" "{PMID:Verdina 2017:28365912}" "" "" "?" "" "" "0" "" "" "" "20"
"00365607" "" "" "" "1" "" "01695" "{PMID:Verdina 2017:28365912}" "" "" "?" "" "" "0" "" "" "" "21"
"00365608" "" "" "" "1" "" "01695" "{PMID:Verdina 2017:28365912}" "" "" "?" "" "" "0" "" "" "" "22"
"00365609" "" "" "" "1" "" "01695" "{PMID:Verdina 2017:28365912}" "" "" "?" "" "" "0" "" "" "" "23"
"00365610" "" "" "" "1" "" "01695" "{PMID:Verdina 2017:28365912}" "" "" "?" "" "" "0" "" "" "" "24"
"00365611" "" "" "" "1" "" "01695" "{PMID:Verdina 2017:28365912}" "" "" "?" "" "" "0" "" "" "" "25"
"00365612" "" "" "" "1" "" "01695" "{PMID:Verdina 2017:28365912}" "" "" "?" "" "" "0" "" "" "" "26"
"00365613" "" "" "" "1" "" "01695" "{PMID:Verdina 2017:28365912}" "" "" "?" "" "" "0" "" "" "" "27"
"00365614" "" "" "" "1" "" "01695" "{PMID:Verdina 2017:28365912}" "" "" "?" "" "" "0" "" "" "" "28"
"00365615" "" "" "" "1" "" "01695" "{PMID:Verdina 2017:28365912}" "" "" "?" "" "" "0" "" "" "" "29"
"00365616" "" "" "" "1" "" "01695" "{PMID:Verdina 2017:28365912}" "" "" "?" "" "" "0" "" "" "" "30"
"00365617" "" "" "" "1" "" "01695" "{PMID:Verdina 2017:28365912}" "" "" "?" "" "" "0" "" "" "" "31"
"00365618" "" "" "" "1" "" "01695" "{PMID:Verdina 2017:28365912}" "" "" "?" "" "" "0" "" "" "" "32"
"00365619" "" "" "" "1" "" "01695" "{PMID:Verdina 2017:28365912}" "" "" "?" "" "" "0" "" "" "" "33"
"00365620" "" "" "" "1" "" "01695" "{PMID:Verdina 2017:28365912}" "" "" "?" "" "" "0" "" "" "" "34"
"00365621" "" "" "" "1" "" "01695" "{PMID:Verdina 2017:28365912}" "" "" "?" "" "" "0" "" "" "" "35"
"00365622" "" "" "" "1" "" "01695" "{PMID:Verdina 2017:28365912}" "" "" "?" "" "" "0" "" "" "" "36"
"00365623" "" "" "" "1" "" "01695" "{PMID:Verdina 2017:28365912}" "" "" "?" "" "" "0" "" "" "" "37"
"00365624" "" "" "" "1" "" "01695" "{PMID:Verdina 2017:28365912}" "" "" "?" "" "" "0" "" "" "" "38"
"00365625" "" "" "" "1" "" "01695" "{PMID:Verdina 2017:28365912}" "" "" "?" "" "" "0" "" "" "" "39"
"00365626" "" "" "" "1" "" "01695" "{PMID:Verdina 2017:28365912}" "" "" "?" "" "" "0" "" "" "" "40"
"00365627" "" "" "" "1" "" "01695" "{PMID:Verdina 2017:28365912}" "" "" "?" "" "" "0" "" "" "" "41"
"00365628" "" "" "" "1" "" "01695" "{PMID:Verdina 2017:28365912}" "" "" "?" "" "" "0" "" "" "" "42"
"00365629" "" "" "" "1" "" "01695" "{PMID:Verdina 2017:28365912}" "" "" "?" "" "" "0" "" "" "" "43"
"00365630" "" "" "" "1" "" "01695" "{PMID:Verdina 2017:28365912}" "" "" "?" "" "" "0" "" "" "" "44"
"00365631" "" "" "" "1" "" "01695" "{PMID:Verdina 2017:28365912}" "" "" "?" "" "" "0" "" "" "" "45"
"00365632" "" "" "" "1" "" "01695" "{PMID:Verdina 2017:28365912}" "" "" "?" "" "" "0" "" "" "" "46"
"00365633" "" "" "" "1" "" "01695" "{PMID:Verdina 2017:28365912}" "" "" "?" "" "" "0" "" "" "" "47"
"00365634" "" "" "" "1" "" "01695" "{PMID:Verdina 2017:28365912}" "" "" "?" "" "" "0" "" "" "" "48"
"00365635" "" "" "" "1" "" "01695" "{PMID:Verdina 2017:28365912}" "" "" "?" "" "" "0" "" "" "" "49"
"00365636" "" "" "" "1" "" "01695" "{PMID:Verdina 2017:28365912}" "" "" "?" "" "" "0" "" "" "" "50"
"00365637" "" "" "" "1" "" "01695" "{PMID:Verdina 2017:28365912}" "" "" "?" "" "" "0" "" "" "" "51"
"00365638" "" "" "" "1" "" "01695" "{PMID:Verdina 2017:28365912}" "" "" "?" "" "" "0" "" "" "" "52"
"00365639" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3366"
"00365640" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3255"
"00365641" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3101"
"00365642" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3298"
"00365643" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3155"
"00365644" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3800"
"00365645" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3216"
"00365646" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3292"
"00365647" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "5007"
"00365648" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "4563"
"00365649" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3237"
"00365650" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3070"
"00365651" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3965"
"00365652" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3648"
"00365653" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3865"
"00365654" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "4514"
"00365655" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3981"
"00365656" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3400"
"00365657" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3902"
"00365658" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "9018"
"00365659" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3257"
"00365660" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3600"
"00365661" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3188"
"00365662" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3049"
"00365663" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3074"
"00365664" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3349"
"00365665" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3509"
"00365666" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3477"
"00365667" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3348"
"00365668" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3449"
"00365669" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "5225"
"00365670" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3061"
"00365671" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3326"
"00365672" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3241"
"00365673" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "4542"
"00365674" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3031"
"00365675" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3525"
"00365676" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3134"
"00365677" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3786"
"00365678" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3513"
"00365679" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3291"
"00365680" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3798"
"00365681" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3142"
"00365682" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "9004"
"00365683" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3399"
"00365684" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3642"
"00365685" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3556"
"00365686" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "4271"
"00365687" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3330"
"00365688" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3430"
"00365689" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3827"
"00365690" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3151"
"00365691" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3788"
"00365692" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3143"
"00365693" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3295"
"00365694" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "Y417"
"00365695" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3954"
"00365696" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3192"
"00365697" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "9025"
"00365698" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3353"
"00365699" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3730"
"00365700" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3225"
"00365701" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3570"
"00365702" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3226"
"00365703" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3725"
"00365704" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "9001"
"00365705" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3709"
"00365706" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3859"
"00365707" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3888"
"00365708" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3071"
"00365709" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3387"
"00365710" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3059"
"00365711" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3378"
"00365712" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3391"
"00365713" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3124"
"00365714" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3023"
"00365715" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "9029"
"00365716" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3782"
"00365717" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3001"
"00365718" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3638"
"00365719" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3971"
"00365720" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3809"
"00365721" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3925"
"00365722" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3539"
"00365723" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3928"
"00365724" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3572"
"00365725" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3106"
"00365726" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3392"
"00365727" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3035"
"00365728" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3516"
"00365729" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3263"
"00365730" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3384"
"00365731" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "9084"
"00365732" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3511"
"00365733" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3198"
"00365734" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3385"
"00365735" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "4515"
"00365736" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3785"
"00365737" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3052"
"00365738" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3483"
"00365739" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3818"
"00365740" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3416"
"00365741" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3498"
"00365742" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3561"
"00365743" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "4185"
"00365744" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3231"
"00365745" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3075"
"00365746" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3748"
"00365747" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3732"
"00365748" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3423"
"00365749" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3821"
"00365750" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3960"
"00365751" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "9064"
"00365752" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3113"
"00365753" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "4333"
"00365754" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3211"
"00365755" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3478"
"00365756" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3220"
"00365757" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3578"
"00365758" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3494"
"00365759" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3262"
"00365760" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3586"
"00365761" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3401"
"00365762" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3501"
"00365763" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3267"
"00365764" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3343"
"00365765" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3594"
"00365766" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3708"
"00365767" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "4385"
"00365768" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3309"
"00365769" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3453"
"00365770" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3260"
"00365771" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3214"
"00365772" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "4547"
"00365773" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3248"
"00365774" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3324"
"00365775" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3964"
"00365776" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3167"
"00365777" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3249"
"00365778" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3322"
"00365779" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3373"
"00365780" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3091"
"00365781" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3066"
"00365782" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3289"
"00365783" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3371"
"00365784" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3842"
"00365785" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3000"
"00365786" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3852"
"00365787" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3409"
"00365788" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3016"
"00365789" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3175"
"00365790" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3824"
"00365791" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3792"
"00365792" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3130"
"00365793" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3208"
"00365794" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3493"
"00365795" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3475"
"00365796" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3435"
"00365797" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3451"
"00365798" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3543"
"00365799" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3565"
"00365800" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "7076"
"00365801" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "Y391"
"00365802" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "4361"
"00365803" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3233"
"00365804" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3382"
"00365805" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3784"
"00365806" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3323"
"00365807" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3254"
"00365808" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3067"
"00365809" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3196"
"00365810" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3062"
"00365811" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3469"
"00365812" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "6046"
"00365813" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3329"
"00365814" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3190"
"00365815" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3235"
"00365816" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "4085"
"00365817" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3432"
"00365818" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3804"
"00365819" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3275"
"00365820" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "9028"
"00365821" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "4602"
"00365822" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "9090"
"00365823" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "9056"
"00365824" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3993"
"00365825" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3998"
"00365826" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "9068"
"00365827" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3480"
"00365828" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3174"
"00365829" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "9019"
"00365830" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3044"
"00365831" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3904"
"00365832" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "4060"
"00365833" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3688"
"00365834" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3137"
"00365835" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3470"
"00365836" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3956"
"00365837" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3502"
"00365838" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3968"
"00365839" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3173"
"00365840" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "9012"
"00365841" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3313"
"00365842" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3010"
"00365843" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3778"
"00365844" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3466"
"00365845" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3604"
"00365846" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3252"
"00365847" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3209"
"00365848" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3765"
"00365849" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3011"
"00365850" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3962"
"00365851" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3817"
"00365852" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3160"
"00365853" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3403"
"00365854" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3164"
"00365855" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3395"
"00365856" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3178"
"00365857" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3686"
"00365858" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3811"
"00365859" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3364"
"00365860" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3136"
"00365861" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3942"
"00365862" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3887"
"00365863" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3413"
"00365864" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3236"
"00365865" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "5180"
"00365866" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3419"
"00365867" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3548"
"00365868" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3243"
"00365869" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3801"
"00365870" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3858"
"00365871" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3126"
"00365872" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "Y423"
"00365873" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "4428"
"00365874" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3072"
"00365875" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3402"
"00365876" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "Y485"
"00365877" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3486"
"00365878" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3953"
"00365879" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3006"
"00365880" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3624"
"00365881" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3926"
"00365882" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3805"
"00365883" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3154"
"00365884" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "4286"
"00365885" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3656"
"00365886" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3128"
"00365887" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "9015"
"00365888" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3771"
"00365889" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "9060"
"00365890" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3121"
"00365891" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3969"
"00365892" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3873"
"00365893" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3234"
"00365894" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3102"
"00365895" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3288"
"00365896" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3899"
"00365897" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3912"
"00365898" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3060"
"00365899" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3447"
"00365900" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3081"
"00365901" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3036"
"00365902" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3365"
"00365903" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3187"
"00365904" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3183"
"00365905" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3407"
"00365906" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "4405"
"00365907" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3529"
"00365908" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3978"
"00365909" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3650"
"00365910" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "5010"
"00365911" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "9057"
"00365912" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3328"
"00365913" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3670"
"00365914" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3338"
"00365915" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3723"
"00365916" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3259"
"00365917" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3583"
"00365918" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3990"
"00365919" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3598"
"00365920" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3934"
"00365921" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3812"
"00365922" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3986"
"00365923" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3775"
"00365924" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3523"
"00365925" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3299"
"00365926" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3380"
"00365927" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3559"
"00365928" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3664"
"00365929" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3894"
"00365930" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3920"
"00365931" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3337"
"00365932" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3321"
"00365933" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "4556"
"00365934" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3092"
"00365935" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3940"
"00365936" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3952"
"00365937" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3191"
"00365938" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "Y415"
"00365939" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3794"
"00365940" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3082"
"00365941" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "8"
"00365942" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3376"
"00365943" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3562"
"00365944" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3170"
"00365945" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3397"
"00365946" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3099"
"00365947" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3580"
"00365948" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3182"
"00365949" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "4472"
"00365950" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3589"
"00365951" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3489"
"00365952" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3424"
"00365953" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3863"
"00365954" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3240"
"00365955" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3351"
"00365956" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3474"
"00365957" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3176"
"00365958" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3945"
"00365959" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3228"
"00365960" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3692"
"00365961" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3227"
"00365962" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3107"
"00365963" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3117"
"00365964" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "9081"
"00365965" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3957"
"00365966" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "9032"
"00365967" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3002"
"00365968" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3977"
"00365969" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3510"
"00365970" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "4338"
"00365971" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3504"
"00365972" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3446"
"00365973" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3426"
"00365974" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3094"
"00365975" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3286"
"00365976" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3521"
"00365977" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3064"
"00365978" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3584"
"00365979" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3601"
"00365980" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3495"
"00365981" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3531"
"00365982" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "7203"
"00365983" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3100"
"00365984" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "4225"
"00365985" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3769"
"00365986" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3790"
"00365987" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3687"
"00365988" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "9099"
"00365989" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "9040"
"00365990" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3375"
"00365991" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "4574"
"00365992" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3557"
"00365993" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "4580"
"00365994" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3876"
"00365995" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3335"
"00365996" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3085"
"00365997" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3080"
"00365998" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3496"
"00365999" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "9097"
"00366000" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "9013"
"00366001" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "Y522"
"00366002" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3057"
"00366003" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3087"
"00366004" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3452"
"00366005" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3464"
"00366006" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3195"
"00366007" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3051"
"00366008" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3488"
"00366009" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3671"
"00366010" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3767"
"00366011" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3892"
"00366012" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3938"
"00366013" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3381"
"00366014" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3405"
"00366015" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "9007"
"00366016" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "9011"
"00366017" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "9045"
"00366018" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "9047"
"00366019" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "9051"
"00366020" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "9095"
"00366021" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "4546"
"00366022" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3422"
"00366023" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "4512"
"00366024" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3357"
"00366025" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3293"
"00366026" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3028"
"00366027" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3704"
"00366028" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3766"
"00366029" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3429"
"00366030" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3361"
"00366031" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}{PMID:Collison 2019:30204727}" "" "F" "?" "United States" "" "0" "" "" "" "3127; 26"
"00366032" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3046"
"00366033" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3527"
"00366034" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "4115"
"00366035" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3813"
"00366036" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3110"
"00366037" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "4594"
"00366038" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3245"
"00366039" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}{PMID:Collison 2019:30204727}" "" "F" "?" "United States" "" "0" "" "" "white" "3862; 27"
"00366040" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3803"
"00366041" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3098"
"00366042" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3485"
"00366043" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3456"
"00366044" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3089"
"00366045" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}{PMID:Collison 2019:30204727}" "" "F" "?" "United States" "" "0" "" "" "" "3903; 23"
"00366046" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3123"
"00366047" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3492"
"00366048" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3162"
"00366049" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3159"
"00366050" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3450"
"00366051" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3045"
"00366052" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3020"
"00366053" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3008"
"00366054" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3032"
"00366055" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3073"
"00366056" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3037"
"00366057" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3468"
"00366058" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3268"
"00366059" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3520"
"00366060" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3316"
"00366061" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3532"
"00366062" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3603"
"00366063" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "4367"
"00366064" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3609"
"00366065" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3487"
"00366066" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3706"
"00366067" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3733"
"00366068" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3832"
"00366069" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "4565"
"00366070" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3982"
"00366071" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3999"
"00366072" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3150"
"00366073" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "4638"
"00366074" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "9066"
"00366075" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "9096"
"00366076" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "9017"
"00366077" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "Y256"
"00366078" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "5360"
"00366079" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "4720"
"00366080" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3297"
"00366081" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3943"
"00366082" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3363"
"00366083" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3056"
"00366084" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3118"
"00366085" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3133"
"00366086" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3901"
"00366087" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "5222"
"00366088" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "4632"
"00366089" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "4391"
"00366090" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3944"
"00366091" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3579"
"00366092" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "4120"
"00366093" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3278"
"00366094" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "4203"
"00366095" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3898"
"00366096" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3315"
"00366097" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "4541"
"00366098" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3103"
"00366099" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3327"
"00366100" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3740"
"00366101" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "5056"
"00366102" "" "" "" "1" "" "01695" "{PMID:Zernant 2017:28446513}" "" "" "?" "United States" "" "0" "" "" "" "3018"
"00366103" "" "" "" "1" "" "01695" "{PMID:Stone 2017:28559085}" "" "M" "?" "" "" "0" "" "" "" "652"
"00366104" "" "" "" "1" "" "01695" "{PMID:Stone 2017:28559085}" "" "F" "?" "" "" "0" "" "" "" "653"
"00366105" "" "" "" "1" "" "01695" "{PMID:Stone 2017:28559085}" "" "F" "?" "" "" "0" "" "" "" "654"
"00366106" "" "" "" "1" "" "01695" "{PMID:Stone 2017:28559085}" "" "M" "?" "" "" "0" "" "" "" "655"
"00366107" "" "" "" "1" "" "01695" "{PMID:Stone 2017:28559085}" "" "F" "?" "" "" "0" "" "" "" "656"
"00366108" "" "" "" "1" "" "01695" "{PMID:Stone 2017:28559085}" "" "F" "?" "" "" "0" "" "" "" "657"
"00366109" "" "" "" "1" "" "01695" "{PMID:Stone 2017:28559085}" "" "F" "?" "" "" "0" "" "" "" "658"
"00366110" "" "" "" "1" "" "01695" "{PMID:Stone 2017:28559085}" "" "F" "?" "" "" "0" "" "" "" "659"
"00366111" "" "" "" "1" "" "01695" "{PMID:Stone 2017:28559085}" "" "F" "?" "" "" "0" "" "" "" "660"
"00366112" "" "" "" "1" "" "01695" "{PMID:Stone 2017:28559085}" "" "F" "?" "" "" "0" "" "" "" "661"
"00366113" "" "" "" "1" "" "01695" "{PMID:Stone 2017:28559085}" "" "F" "?" "" "" "0" "" "" "" "662"
"00366114" "" "" "" "1" "" "01695" "{PMID:Stone 2017:28559085}" "" "F" "?" "" "" "0" "" "" "" "663"
"00366115" "" "" "" "1" "" "01695" "{PMID:Stone 2017:28559085}" "" "F" "?" "" "" "0" "" "" "" "664"
"00366116" "" "" "" "1" "" "01695" "{PMID:Stone 2017:28559085}" "" "F" "?" "" "" "0" "" "" "" "665"
"00366117" "" "" "" "1" "" "01695" "{PMID:Stone 2017:28559085}" "" "F" "?" "" "" "0" "" "" "" "666"
"00366118" "" "" "" "1" "" "01695" "{PMID:Stone 2017:28559085}" "" "M" "?" "" "" "0" "" "" "" "667"
"00366119" "" "" "" "1" "" "01695" "{PMID:Stone 2017:28559085}" "" "M" "?" "" "" "0" "" "" "" "668"
"00366120" "" "" "" "1" "" "01695" "{PMID:Stone 2017:28559085}" "" "F" "?" "" "" "0" "" "" "" "669"
"00366121" "" "" "" "1" "" "01695" "{PMID:Stone 2017:28559085}" "" "M" "?" "" "" "0" "" "" "" "670"
"00366122" "" "" "" "1" "" "01695" "{PMID:Stone 2017:28559085}" "" "M" "?" "" "" "0" "" "" "" "671"
"00366123" "" "" "" "1" "" "01695" "{PMID:Stone 2017:28559085}" "" "M" "?" "" "" "0" "" "" "" "672"
"00366124" "" "" "" "1" "" "01695" "{PMID:Stone 2017:28559085}" "" "F" "?" "" "" "0" "" "" "" "673"
"00366125" "" "" "" "1" "" "01695" "{PMID:Stone 2017:28559085}" "" "M" "?" "" "" "0" "" "" "" "674"
"00366126" "" "" "" "1" "" "01695" "{PMID:Stone 2017:28559085}" "" "F" "?" "" "" "0" "" "" "" "675"
"00366127" "" "" "" "1" "" "01695" "{PMID:Stone 2017:28559085}" "" "F" "?" "" "" "0" "" "" "" "676"
"00366128" "" "" "" "1" "" "01695" "{PMID:Stone 2017:28559085}" "" "F" "?" "" "" "0" "" "" "" "677"
"00366129" "" "" "" "1" "" "01695" "{PMID:Stone 2017:28559085}" "" "F" "?" "" "" "0" "" "" "" "678"
"00366130" "" "" "" "1" "" "01695" "{PMID:Stone 2017:28559085}" "" "F" "?" "" "" "0" "" "" "" "679"
"00366131" "" "" "" "1" "" "01695" "{PMID:Stone 2017:28559085}" "" "F" "?" "" "" "0" "" "" "" "680"
"00366132" "" "" "" "1" "" "01695" "{PMID:Stone 2017:28559085}" "" "M" "?" "" "" "0" "" "" "" "681"
"00366133" "" "" "" "1" "" "01695" "{PMID:Stone 2017:28559085}" "" "M" "?" "" "" "0" "" "" "" "682"
"00366134" "" "" "" "1" "" "01695" "{PMID:Stone 2017:28559085}" "" "M" "?" "" "" "0" "" "" "" "683"
"00366135" "" "" "" "1" "" "01695" "{PMID:Stone 2017:28559085}" "" "F" "?" "" "" "0" "" "" "" "684"
"00366136" "" "" "" "1" "" "01695" "{PMID:Stone 2017:28559085}" "" "M" "?" "" "" "0" "" "" "" "685"
"00366137" "" "" "" "1" "" "01695" "{PMID:Stone 2017:28559085}" "" "M" "?" "" "" "0" "" "" "" "686"
"00366138" "" "" "" "1" "" "01695" "{PMID:Stone 2017:28559085}" "" "M" "?" "" "" "0" "" "" "" "687"
"00366139" "" "" "" "1" "" "01695" "{PMID:Stone 2017:28559085}" "" "F" "?" "" "" "0" "" "" "" "688"
"00366140" "" "" "" "1" "" "01695" "{PMID:Stone 2017:28559085}" "" "M" "?" "" "" "0" "" "" "" "689"
"00366141" "" "" "" "1" "" "01695" "{PMID:Stone 2017:28559085}" "" "F" "?" "" "" "0" "" "" "" "690"
"00366142" "" "" "" "1" "" "01695" "{PMID:Stone 2017:28559085}" "" "M" "?" "" "" "0" "" "" "" "691"
"00366143" "" "" "" "1" "" "01695" "{PMID:Stone 2017:28559085}" "" "F" "?" "" "" "0" "" "" "" "692"
"00366144" "" "" "" "1" "" "01695" "{PMID:Stone 2017:28559085}" "" "F" "?" "" "" "0" "" "" "" "693"
"00366145" "" "" "" "1" "" "01695" "{PMID:Stone 2017:28559085}" "" "F" "?" "" "" "0" "" "" "" "694"
"00366146" "" "" "" "1" "" "01695" "{PMID:Stone 2017:28559085}" "" "F" "?" "" "" "0" "" "" "" "695"
"00366147" "" "" "" "1" "" "01695" "{PMID:Stone 2017:28559085}" "" "F" "?" "" "" "0" "" "" "" "696"
"00366148" "" "" "" "1" "" "01695" "{PMID:Stone 2017:28559085}" "" "M" "?" "" "" "0" "" "" "" "697"
"00366149" "" "" "" "1" "" "01695" "{PMID:Stone 2017:28559085}" "" "M" "?" "" "" "0" "" "" "" "698"
"00366150" "" "" "" "1" "" "01695" "{PMID:Stone 2017:28559085}" "" "F" "?" "" "" "0" "" "" "" "699"
"00366151" "" "" "" "1" "" "01695" "{PMID:Stone 2017:28559085}" "" "F" "?" "" "" "0" "" "" "" "700"
"00366152" "" "" "" "1" "" "01695" "{PMID:Stone 2017:28559085}" "" "F" "?" "" "" "0" "" "" "" "701"
"00366153" "" "" "" "1" "" "01695" "{PMID:Stone 2017:28559085}" "" "F" "?" "" "" "0" "" "" "" "702"
"00366154" "" "" "" "1" "" "01695" "{PMID:Stone 2017:28559085}" "" "M" "?" "" "" "0" "" "" "" "703"
"00366155" "" "" "" "1" "" "01695" "{PMID:Stone 2017:28559085}" "" "M" "?" "" "" "0" "" "" "" "704"
"00366156" "" "" "" "1" "" "01695" "{PMID:Stone 2017:28559085}" "" "M" "?" "" "" "0" "" "" "" "705"
"00366157" "" "" "" "1" "" "01695" "{PMID:Stone 2017:28559085}" "" "M" "?" "" "" "0" "" "" "" "706"
"00366158" "" "" "" "1" "" "01695" "{PMID:Stone 2017:28559085}" "" "F" "?" "" "" "0" "" "" "" "707"
"00366159" "" "" "" "1" "" "01695" "{PMID:Stone 2017:28559085}" "" "M" "?" "" "" "0" "" "" "" "708"
"00366160" "" "" "" "1" "" "01695" "{PMID:Stone 2017:28559085}" "" "F" "?" "" "" "0" "" "" "" "709"
"00366161" "" "" "" "1" "" "01695" "{PMID:Stone 2017:28559085}" "" "F" "?" "" "" "0" "" "" "" "710"
"00366162" "" "" "" "1" "" "01695" "{PMID:Stone 2017:28559085}" "" "F" "?" "" "" "0" "" "" "" "711"
"00366163" "" "" "" "1" "" "01695" "{PMID:Stone 2017:28559085}" "" "F" "?" "" "" "0" "" "" "" "712"
"00366164" "" "" "" "1" "" "01695" "{PMID:Stone 2017:28559085}" "" "F" "?" "" "" "0" "" "" "" "713"
"00366165" "" "" "" "1" "" "01695" "{PMID:Stone 2017:28559085}" "" "F" "?" "" "" "0" "" "" "" "714"
"00366166" "" "" "" "1" "" "01695" "{PMID:Stone 2017:28559085}" "" "F" "?" "" "" "0" "" "" "" "715"
"00366167" "" "" "" "1" "" "01695" "{PMID:Stone 2017:28559085}" "" "F" "?" "" "" "0" "" "" "" "716"
"00366168" "" "" "" "1" "" "01695" "{PMID:Stone 2017:28559085}" "" "F" "?" "" "" "0" "" "" "" "717"
"00366169" "" "" "" "1" "" "01695" "{PMID:Stone 2017:28559085}" "" "F" "?" "" "" "0" "" "" "" "718"
"00366170" "" "" "" "1" "" "01695" "{PMID:Stone 2017:28559085}" "" "M" "?" "" "" "0" "" "" "" "719"
"00366171" "" "" "" "1" "" "01695" "{PMID:Stone 2017:28559085}" "" "F" "?" "" "" "0" "" "" "" "720"
"00366172" "" "" "" "1" "" "01695" "{PMID:Stone 2017:28559085}" "" "M" "?" "" "" "0" "" "" "" "721"
"00366173" "" "" "" "1" "" "01695" "{PMID:Stone 2017:28559085}" "" "F" "?" "" "" "0" "" "" "" "722"
"00366174" "" "" "" "1" "" "01695" "{PMID:Stone 2017:28559085}" "" "F" "?" "" "" "0" "" "" "" "723"
"00366175" "" "" "" "1" "" "01695" "{PMID:Stone 2017:28559085}" "" "F" "?" "" "" "0" "" "" "" "724"
"00366176" "" "" "" "1" "" "01695" "{PMID:Stone 2017:28559085}" "" "M" "?" "" "" "0" "" "" "" "725"
"00366177" "" "" "" "1" "" "01695" "{PMID:Stone 2017:28559085}" "" "F" "?" "" "" "0" "" "" "" "726"
"00366178" "" "" "" "1" "" "01695" "{PMID:Stone 2017:28559085}" "" "F" "?" "" "" "0" "" "" "" "727"
"00366179" "" "" "" "1" "" "01695" "{PMID:Stone 2017:28559085}" "" "M" "?" "" "" "0" "" "" "" "728"
"00366180" "" "" "" "1" "" "01695" "{PMID:Stone 2017:28559085}" "" "F" "?" "" "" "0" "" "" "" "729"
"00366181" "" "" "" "1" "" "01695" "{PMID:Stone 2017:28559085}" "" "F" "?" "" "" "0" "" "" "" "730"
"00366182" "" "" "" "1" "" "01695" "{PMID:Stone 2017:28559085}" "" "M" "?" "" "" "0" "" "" "" "731"
"00366183" "" "" "" "1" "" "01695" "{PMID:Stone 2017:28559085}" "" "M" "?" "" "" "0" "" "" "" "732"
"00366184" "" "" "" "1" "" "01695" "{PMID:Stone 2017:28559085}" "" "M" "?" "" "" "0" "" "" "" "733"
"00366185" "" "" "" "1" "" "01695" "{PMID:Stone 2017:28559085}" "" "M" "?" "" "" "0" "" "" "" "734"
"00366186" "" "" "" "1" "" "01695" "{PMID:Stone 2017:28559085}" "" "M" "?" "" "" "0" "" "" "" "735"
"00366187" "" "" "" "1" "" "01695" "{PMID:Stone 2017:28559085}" "" "F" "?" "" "" "0" "" "" "" "736"
"00366188" "" "" "" "1" "" "01695" "{PMID:Stone 2017:28559085}" "" "M" "?" "" "" "0" "" "" "" "737"
"00366189" "" "" "" "1" "" "01695" "{PMID:Stone 2017:28559085}" "" "F" "?" "" "" "0" "" "" "" "739"
"00366190" "" "" "" "1" "" "01695" "{PMID:Stone 2017:28559085}" "" "F" "?" "" "" "0" "" "" "" "740"
"00366191" "" "" "" "1" "" "01695" "{PMID:Stone 2017:28559085}" "" "F" "?" "" "" "0" "" "" "" "741"
"00366192" "" "" "" "1" "" "01695" "{PMID:Stone 2017:28559085}" "" "M" "?" "" "" "0" "" "" "" "742"
"00366193" "" "" "" "1" "" "01695" "{PMID:Stone 2017:28559085}" "" "M" "?" "" "" "0" "" "" "" "743"
"00366194" "" "" "" "1" "" "01695" "{PMID:Stone 2017:28559085}" "" "M" "?" "" "" "0" "" "" "" "744"
"00366195" "" "" "" "1" "" "01695" "{PMID:Stone 2017:28559085}" "" "F" "?" "" "" "0" "" "" "" "745"
"00366196" "" "" "" "1" "" "01695" "{PMID:Stone 2017:28559085}" "" "M" "?" "" "" "0" "" "" "" "746"
"00366197" "" "" "" "1" "" "01695" "{PMID:Stone 2017:28559085}" "" "F" "?" "" "" "0" "" "" "" "747"
"00366198" "" "" "" "1" "" "01695" "{PMID:Stone 2017:28559085}" "" "F" "?" "" "" "0" "" "" "" "748"
"00366199" "" "" "" "1" "" "01695" "{PMID:Stone 2017:28559085}" "" "F" "?" "" "" "0" "" "" "" "749"
"00366200" "" "" "" "1" "" "01695" "{PMID:Stone 2017:28559085}" "" "M" "?" "" "" "0" "" "" "" "750"
"00366201" "" "" "" "1" "" "01695" "{PMID:Stone 2017:28559085}" "" "F" "?" "" "" "0" "" "" "" "751"
"00366202" "" "" "" "1" "" "01695" "{PMID:Stone 2017:28559085}" "" "F" "?" "" "" "0" "" "" "" "752"
"00366203" "" "" "" "1" "" "01695" "{PMID:Stone 2017:28559085}" "" "F" "?" "" "" "0" "" "" "" "753"
"00366204" "" "" "" "1" "" "01695" "{PMID:Stone 2017:28559085}" "" "F" "?" "" "" "0" "" "" "" "754"
"00366205" "" "" "" "1" "" "01695" "{PMID:Stone 2017:28559085}" "" "F" "?" "" "" "0" "" "" "" "755"
"00366206" "" "" "" "1" "" "01695" "{PMID:Stone 2017:28559085}" "" "F" "?" "" "" "0" "" "" "" "756"
"00366207" "" "" "" "1" "" "01695" "{PMID:Stone 2017:28559085}" "" "M" "?" "" "" "0" "" "" "" "757"
"00366208" "" "" "" "1" "" "01695" "{PMID:Stone 2017:28559085}" "" "M" "?" "" "" "0" "" "" "" "758"
"00366209" "" "" "" "1" "" "01695" "{PMID:Stone 2017:28559085}" "" "F" "?" "" "" "0" "" "" "" "759"
"00366210" "" "" "" "1" "" "01695" "{PMID:Stone 2017:28559085}" "" "M" "?" "" "" "0" "" "" "" "760"
"00366211" "" "" "" "1" "" "01695" "{PMID:Stone 2017:28559085}" "" "M" "?" "" "" "0" "" "" "" "761"
"00366212" "" "" "" "1" "" "01695" "{PMID:Stone 2017:28559085}" "" "M" "?" "" "" "0" "" "" "" "762"
"00366213" "" "" "" "1" "" "01695" "{PMID:Stone 2017:28559085}" "" "F" "?" "" "" "0" "" "" "" "763"
"00366214" "" "" "" "1" "" "01695" "{PMID:Stone 2017:28559085}" "" "F" "?" "" "" "0" "" "" "" "764"
"00366215" "" "" "" "1" "" "01695" "{PMID:Stone 2017:28559085}" "" "F" "?" "" "" "0" "" "" "" "765"
"00366216" "" "" "" "1" "" "01695" "{PMID:Stone 2017:28559085}" "" "F" "?" "" "" "0" "" "" "" "766"
"00366217" "" "" "" "1" "" "01695" "{PMID:Stone 2017:28559085}" "" "M" "?" "" "" "0" "" "" "" "767"
"00366218" "" "" "" "1" "" "01695" "{PMID:Stone 2017:28559085}" "" "F" "?" "" "" "0" "" "" "" "768"
"00366219" "" "" "" "1" "" "01695" "{PMID:Stone 2017:28559085}" "" "F" "?" "" "" "0" "" "" "" "769"
"00366220" "" "" "" "1" "" "01695" "{PMID:Stone 2017:28559085}" "" "M" "?" "" "" "0" "" "" "" "770"
"00366221" "" "" "" "1" "" "01695" "{PMID:Stone 2017:28559085}" "" "M" "?" "" "" "0" "" "" "" "771"
"00366222" "" "" "" "1" "" "01695" "{PMID:Stone 2017:28559085}" "" "M" "?" "" "" "0" "" "" "" "772"
"00366223" "" "" "" "1" "" "01695" "{PMID:Stone 2017:28559085}" "" "F" "?" "" "" "0" "" "" "" "773"
"00366224" "" "" "" "1" "" "01695" "{PMID:Stone 2017:28559085}" "" "M" "?" "" "" "0" "" "" "" "774"
"00366225" "" "" "" "1" "" "01695" "{PMID:Stone 2017:28559085}" "" "F" "?" "" "" "0" "" "" "" "775"
"00366226" "" "" "" "1" "" "01695" "{PMID:Stone 2017:28559085}" "" "F" "?" "" "" "0" "" "" "" "776"
"00366227" "" "" "" "1" "" "01695" "{PMID:Stone 2017:28559085}" "" "M" "?" "" "" "0" "" "" "" "777"
"00366228" "" "" "" "1" "" "01695" "{PMID:Stone 2017:28559085}" "" "F" "?" "" "" "0" "" "" "" "778"
"00366229" "" "" "" "1" "" "01695" "{PMID:Stone 2017:28559085}" "" "M" "?" "" "" "0" "" "" "" "779"
"00366230" "" "" "" "1" "" "01695" "{PMID:Stone 2017:28559085}" "" "M" "?" "" "" "0" "" "" "" "780"
"00366231" "" "" "" "1" "" "01695" "{PMID:Stone 2017:28559085}" "" "F" "?" "" "" "0" "" "" "" "781"
"00366232" "" "" "" "1" "" "01695" "{PMID:Stone 2017:28559085}" "" "M" "?" "" "" "0" "" "" "" "782"
"00366233" "" "" "" "1" "" "01695" "{PMID:Stone 2017:28559085}" "" "F" "?" "" "" "0" "" "" "" "783"
"00366234" "" "" "" "1" "" "01695" "{PMID:Stone 2017:28559085}" "" "M" "?" "" "" "0" "" "" "" "784"
"00366235" "" "" "" "1" "" "01695" "{PMID:Stone 2017:28559085}" "" "M" "?" "" "" "0" "" "" "" "785"
"00366236" "" "" "" "1" "" "01695" "{PMID:Stone 2017:28559085}" "" "F" "?" "" "" "0" "" "" "" "786"
"00366237" "" "" "" "1" "" "01695" "{PMID:Stone 2017:28559085}" "" "M" "?" "" "" "0" "" "" "" "787"
"00366238" "" "" "" "1" "" "01695" "{PMID:Stone 2017:28559085}" "" "F" "?" "" "" "0" "" "" "" "788"
"00366239" "" "" "" "1" "" "01695" "{PMID:Stone 2017:28559085}" "" "F" "?" "" "" "0" "" "" "" "789"
"00366240" "" "" "" "1" "" "01695" "{PMID:Stone 2017:28559085}" "" "F" "?" "" "" "0" "" "" "" "790"
"00366241" "" "" "" "1" "" "01695" "{PMID:Stone 2017:28559085}" "" "F" "?" "" "" "0" "" "" "" "791"
"00366242" "" "" "" "1" "" "01695" "{PMID:Stone 2017:28559085}" "" "M" "?" "" "" "0" "" "" "" "792"
"00366243" "" "" "" "1" "" "01695" "{PMID:Stone 2017:28559085}" "" "M" "?" "" "" "0" "" "" "" "793"
"00366244" "" "" "" "1" "" "01695" "{PMID:Stone 2017:28559085}" "" "M" "?" "" "" "0" "" "" "" "794"
"00366245" "" "" "" "1" "" "01695" "{PMID:Stone 2017:28559085}" "" "F" "?" "" "" "0" "" "" "" "795"
"00366246" "" "" "" "1" "" "01695" "{PMID:Stone 2017:28559085}" "" "F" "?" "" "" "0" "" "" "" "796"
"00366247" "" "" "" "1" "" "01695" "{PMID:Stone 2017:28559085}" "" "M" "?" "" "" "0" "" "" "" "797"
"00366248" "" "" "" "1" "" "01695" "{PMID:Stone 2017:28559085}" "" "M" "?" "" "" "0" "" "" "" "798"
"00366249" "" "" "" "1" "" "01695" "{PMID:Stone 2017:28559085}" "" "F" "?" "" "" "0" "" "" "" "799"
"00366250" "" "" "" "1" "" "01695" "{PMID:Stone 2017:28559085}" "" "M" "?" "" "" "0" "" "" "" "800"
"00366251" "" "" "" "1" "" "01695" "{PMID:Stone 2017:28559085}" "" "M" "?" "" "" "0" "" "" "" "801"
"00366252" "" "" "" "1" "" "01695" "{PMID:Stone 2017:28559085}" "" "M" "?" "" "" "0" "" "" "" "802"
"00366253" "" "" "" "1" "" "01695" "{PMID:Stone 2017:28559085}" "" "M" "?" "" "" "0" "" "" "" "803"
"00366254" "" "" "" "1" "" "01695" "{PMID:Stone 2017:28559085}" "" "M" "?" "" "" "0" "" "" "" "804"
"00366255" "" "" "" "1" "" "01695" "{PMID:Stone 2017:28559085}" "" "M" "?" "" "" "0" "" "" "" "805"
"00366256" "" "" "" "1" "" "01695" "{PMID:Stone 2017:28559085}" "" "M" "?" "" "" "0" "" "" "" "806"
"00366257" "" "" "" "1" "" "01695" "{PMID:Stone 2017:28559085}" "" "M" "?" "" "" "0" "" "" "" "807"
"00366258" "" "" "" "1" "" "01695" "{PMID:Stone 2017:28559085}" "" "M" "?" "" "" "0" "" "" "" "808"
"00366259" "" "" "" "1" "" "01695" "{PMID:Stone 2017:28559085}" "" "F" "?" "" "" "0" "" "" "" "809"
"00366260" "" "" "" "1" "" "01695" "{PMID:Stone 2017:28559085}" "" "F" "?" "" "" "0" "" "" "" "810"
"00366261" "" "" "" "1" "" "01695" "{PMID:Stone 2017:28559085}" "" "M" "?" "" "" "0" "" "" "" "811"
"00366262" "" "" "" "1" "" "01695" "{PMID:Stone 2017:28559085}" "" "F" "?" "" "" "0" "" "" "" "812"
"00366263" "" "" "" "1" "" "01695" "{PMID:Stone 2017:28559085}" "" "F" "?" "" "" "0" "" "" "" "813"
"00366264" "" "" "" "1" "" "01695" "{PMID:Stone 2017:28559085}" "" "F" "?" "" "" "0" "" "" "" "814"
"00366265" "" "" "" "1" "" "01695" "{PMID:Stone 2017:28559085}" "" "F" "?" "" "" "0" "" "" "" "815"
"00366266" "" "" "" "1" "" "01695" "{PMID:Stone 2017:28559085}" "" "F" "?" "" "" "0" "" "" "" "816"
"00366267" "" "" "" "1" "" "01695" "{PMID:Stone 2017:28559085}" "" "F" "?" "" "" "0" "" "" "" "817"
"00366268" "" "" "" "1" "" "01695" "{PMID:Stone 2017:28559085}" "" "F" "?" "" "" "0" "" "" "" "872"
"00366269" "" "" "" "1" "" "01695" "{PMID:Stone 2017:28559085}" "" "M" "?" "" "" "0" "" "" "" "873"
"00366270" "" "" "" "1" "" "01695" "{PMID:Stone 2017:28559085}" "" "F" "?" "" "" "0" "" "" "" "874"
"00366271" "" "" "" "1" "" "01695" "{PMID:Stone 2017:28559085}" "" "F" "?" "" "" "0" "" "" "" "875"
"00366272" "" "" "" "1" "" "01695" "{PMID:Stone 2017:28559085}" "" "F" "?" "" "" "0" "" "" "" "876"
"00366273" "" "" "" "1" "" "01695" "{PMID:Stone 2017:28559085}" "" "M" "?" "" "" "0" "" "" "" "877"
"00366274" "" "" "" "1" "" "01695" "{PMID:Stone 2017:28559085}" "" "F" "?" "" "" "0" "" "" "" "878"
"00366275" "" "" "" "1" "" "01695" "{PMID:Jimenez-Rolando 2018:28571903}" "" "" "?" "Spain" "" "0" "" "" "" "Case 1"
"00366276" "" "" "" "1" "" "01695" "{PMID:Jimenez-Rolando 2018:28571903}" "" "" "?" "Spain" "" "0" "" "" "" "Case 2"
"00366277" "" "" "" "1" "" "01695" "{PMID:Kaway 2017:28611652}" "" "M" "?" "" "" "0" "" "" "" "Unknown 571"
"00366278" "" "" "" "1" "" "01695" "{PMID:Abalem 2017:28726568}" "Nephew of Unknown 573" "M" "?" "" "" "0" "" "" "Taiwan;Korea" "Unknown 572"
"00366279" "" "" "" "1" "" "01695" "{PMID:Abalem 2017:28726568}" "Uncle of Unknown 572" "M" "?" "" "" "0" "" "" "Asia-E" "Unknown 573"
"00366280" "" "" "" "1" "" "01695" "{PMID:Wang 2017:28838317}" "" "" "?" "United States" "" "0" "" "" "" "RD4–04"
"00366281" "" "" "" "1" "" "01695" "{PMID:Wangtiraumnuay 2018:28885670}" "" "F" "no" "United States" "" "0" "" "" "Filipino & Italian Irish" "Unknown 574"
"00366282" "" "" "" "1" "" "01695" "{PMID:Villanueva 2018:28945494}" "Sibling of Mex RD100 II:3" "M" "?" "Mexico" "" "0" "" "" "Mexico" "Mex RD100 II:2"
"00366283" "" "" "" "1" "" "01695" "{PMID:Villanueva 2018:28945494}" "Sibling of Mex RD100 II:3" "F" "?" "Mexico" "" "0" "" "" "Mexico" "Mex RD100 II:3"
"00366284" "" "" "" "1" "" "01695" "{PMID:Tanaka 2018:28947085}" "" "M" "?" "" "" "0" "" "" "white" "2"
"00366285" "" "" "" "1" "" "01695" "{PMID:Tanaka 2018:28947085}" "" "F" "?" "" "" "0" "" "" "white" "3"
"00366286" "" "" "" "1" "" "01695" "{PMID:Tanaka 2018:28947085}" "" "M" "?" "" "" "0" "" "" "Asia" "5"
"00366287" "" "" "" "1" "" "01695" "{PMID:Tanaka 2018:28947085}" "" "M" "?" "" "" "0" "" "" "white" "6"
"00366288" "" "" "" "1" "" "01695" "{PMID:Tanaka 2018:28947085}" "" "M" "?" "" "" "0" "" "" "Hispanic" "7"
"00366289" "" "" "" "1" "" "01695" "{PMID:Tanaka 2018:28947085}" "sibling of patient 9" "M" "?" "" "" "0" "" "" "white" "8*"
"00366290" "" "" "" "1" "" "01695" "{PMID:Tanaka 2018:28947085}" "sibling of patient 8" "F" "?" "" "" "0" "" "" "white" "9*"
"00366291" "" "" "" "1" "" "01695" "{PMID:Tanaka 2018:28947085}" "" "F" "?" "" "" "0" "" "" "white" "11"
"00366292" "" "" "" "1" "" "01695" "{PMID:Tanaka 2018:28947085}" "" "F" "?" "" "" "0" "" "" "white" "12"
"00366293" "" "" "" "1" "" "01695" "{PMID:Tanaka 2018:28947085}" "" "F" "?" "" "" "0" "" "" "Hispanic" "13"
"00366294" "" "" "" "1" "" "01695" "{PMID:Tanaka 2018:28947085}" "" "M" "?" "" "" "0" "" "" "white" "14"
"00366295" "" "" "" "1" "" "01695" "{PMID:Tanaka 2018:28947085}" "" "M" "?" "" "" "0" "" "" "white" "15"
"00366296" "" "" "" "1" "" "01695" "{PMID:Tanaka 2018:28947085}" "" "F" "?" "" "" "0" "" "" "white" "16"
"00366297" "" "" "" "1" "" "01695" "{PMID:Sheremet 2017:28980559}" "" "M" "?" "Russia" "" "0" "" "" "Russia" "1"
"00366298" "" "" "" "1" "" "01695" "{PMID:Sheremet 2017:28980559}" "" "F" "?" "Russia" "" "0" "" "" "Russia" "2"
"00366299" "" "" "" "1" "" "01695" "{PMID:Sheremet 2017:28980559}" "" "M" "?" "Russia" "" "0" "" "" "Russia" "3"
"00366300" "" "" "" "1" "" "01695" "{PMID:Sheremet 2017:28980559}" "sibling of patient 5" "F" "?" "Russia" "" "0" "" "" "Russia" "4"
"00366301" "" "" "" "1" "" "01695" "{PMID:Sheremet 2017:28980559}" "sibling of patient 4" "F" "?" "Russia" "" "0" "" "" "Russia" "5"
"00366302" "" "" "" "1" "" "01695" "{PMID:Sheremet 2017:28980559}" "" "M" "?" "Russia" "" "0" "" "" "Russia" "6"
"00366303" "" "" "" "1" "" "01695" "{PMID:Sheremet 2017:28980559}" "" "M" "?" "Russia" "" "0" "" "" "Russia" "7"
"00366304" "" "" "" "1" "" "01695" "{PMID:Sheremet 2017:28980559}" "" "M" "?" "Russia" "" "0" "" "" "Russia" "8"
"00366305" "" "" "" "1" "" "01695" "{PMID:Sheremet 2017:28980559}" "" "M" "?" "Russia" "" "0" "" "" "Russia" "9"
"00366306" "" "" "" "1" "" "01695" "{PMID:Sheremet 2017:28980559}" "" "M" "?" "Russia" "" "0" "" "" "Russia" "10"
"00366307" "" "" "" "1" "" "01695" "{PMID:Sheremet 2017:28980559}" "" "M" "?" "Russia" "" "0" "" "" "Russia" "11"
"00366308" "" "" "" "1" "" "01695" "{PMID:Sheremet 2017:28980559}" "" "M" "?" "Russia" "" "0" "" "" "Russia" "12"
"00366309" "" "" "" "1" "" "01695" "{PMID:Sheremet 2017:28980559}" "" "M" "?" "Russia" "" "0" "" "" "Russia" "13"
"00366310" "" "" "" "1" "" "01695" "{PMID:Sheremet 2017:28980559}" "sibling of patient 15" "M" "?" "Russia" "" "0" "" "" "Russia" "14"
"00366311" "" "" "" "1" "" "01695" "{PMID:Sheremet 2017:28980559}" "sibling of patient 14" "F" "?" "Russia" "" "0" "" "" "Russia" "15"
"00366312" "" "" "" "1" "" "01695" "{PMID:Sheremet 2017:28980559}" "" "M" "?" "Russia" "" "0" "" "" "Russia" "16"
"00366313" "" "" "" "1" "" "01695" "{PMID:Sheremet 2017:28980559}" "sibling of patient 18" "M" "?" "Russia" "" "0" "" "" "Russia" "17"
"00366314" "" "" "" "1" "" "01695" "{PMID:Sheremet 2017:28980559}" "sibling of patient 17" "F" "?" "Russia" "" "0" "" "" "Russia" "18"
"00366315" "" "" "" "1" "" "01695" "{PMID:Sheremet 2017:28980559}" "" "M" "?" "Russia" "" "0" "" "" "Russia" "19"
"00366316" "" "" "" "1" "" "01695" "{PMID:Sheremet 2017:28980559}" "" "" "?" "Russia" "" "0" "" "" "Russia" "Unknown 576"
"00366317" "" "" "" "1" "" "01695" "{PMID:Sheremet 2017:28980559}" "" "" "?" "Russia" "" "0" "" "" "Russia" "Unknown 577"
"00366318" "" "" "" "1" "" "01695" "{PMID:Sheremet 2017:28980559}" "" "" "?" "Russia" "" "0" "" "" "Russia" "Unknown 578"
"00366319" "" "" "" "1" "" "01695" "{PMID:Sheremet 2017:28980559}" "" "" "?" "Russia" "" "0" "" "" "Russia" "Unknown 579"
"00366320" "" "" "" "1" "" "01695" "{PMID:Sheremet 2017:28980559}" "" "" "?" "Russia" "" "0" "" "" "Russia" "Unknown 580"
"00366321" "" "" "" "1" "" "01695" "{PMID:Sheremet 2017:28980559}" "" "" "?" "Russia" "" "0" "" "" "Russia" "Unknown 581"
"00366322" "" "" "" "1" "" "01695" "{PMID:Sheremet 2017:28980559}" "" "" "?" "Russia" "" "0" "" "" "Russia" "Unknown 582"
"00366323" "" "" "" "1" "" "01695" "{PMID:Sheremet 2017:28980559}" "" "" "?" "Russia" "" "0" "" "" "Russia" "Unknown 583"
"00366324" "" "" "" "1" "" "01695" "{PMID:Sheremet 2017:28980559}" "" "" "?" "Russia" "" "0" "" "" "Russia" "Unknown 584"
"00366325" "" "" "" "1" "" "01695" "{PMID:Sheremet 2017:28980559}" "" "" "?" "Russia" "" "0" "" "" "Russia" "Unknown 585"
"00366326" "" "" "" "1" "" "01695" "{PMID:Sheremet 2017:28980559}" "" "" "?" "Russia" "" "0" "" "" "Russia" "Unknown 586"
"00366327" "" "" "" "1" "" "01695" "{PMID:Sheremet 2017:28980559}" "" "" "?" "Russia" "" "0" "" "" "Russia" "Unknown 587"
"00366328" "" "" "" "1" "" "01695" "{PMID:Sheremet 2017:28980559}" "" "" "?" "Russia" "" "0" "" "" "Russia" "Unknown 588"
"00366329" "" "" "" "1" "" "01695" "{PMID:Sheremet 2017:28980559}" "" "" "?" "Russia" "" "0" "" "" "Russia" "Unknown 589"
"00366330" "" "" "" "1" "" "01695" "{PMID:Sheremet 2017:28980559}" "" "" "?" "Russia" "" "0" "" "" "Russia" "Unknown 590"
"00366331" "" "" "" "1" "" "01695" "{PMID:Sheremet 2017:28980559}" "" "" "?" "Russia" "" "0" "" "" "Russia" "Unknown 591"
"00366332" "" "" "" "1" "" "01695" "{PMID:Sheremet 2017:28980559}" "" "" "?" "Russia" "" "0" "" "" "Russia" "Unknown 592"
"00366333" "" "" "" "1" "" "01695" "{PMID:Sheremet 2017:28980559}" "" "" "?" "Russia" "" "0" "" "" "Russia" "Unknown 593"
"00366334" "" "" "" "1" "" "01695" "{PMID:Sheremet 2017:28980559}" "" "" "?" "Russia" "" "0" "" "" "Russia" "Unknown 594"
"00366335" "" "" "" "1" "" "01695" "{PMID:Sheremet 2017:28980559}" "" "" "?" "Russia" "" "0" "" "" "Russia" "Unknown 595"
"00366336" "" "" "" "1" "" "01695" "{PMID:Sheremet 2017:28980559}" "" "" "?" "Russia" "" "0" "" "" "Russia" "Unknown 596"
"00366337" "" "" "" "1" "" "01695" "{PMID:Sheremet 2017:28980559}" "" "" "?" "Russia" "" "0" "" "" "Russia" "Unknown 597"
"00366338" "" "" "" "1" "" "01695" "{PMID:Sheremet 2017:28980559}" "" "" "?" "Russia" "" "0" "" "" "Russia" "Unknown 598"
"00366339" "" "" "" "1" "" "01695" "{PMID:Sheremet 2017:28980559}" "" "" "?" "Russia" "" "0" "" "" "Russia" "Unknown 599"
"00366340" "" "" "" "1" "" "01695" "{PMID:Sheremet 2017:28980559}" "" "" "?" "Russia" "" "0" "" "" "Russia" "Unknown 600"
"00366341" "" "" "" "1" "" "01695" "{PMID:Sheremet 2017:28980559}" "" "" "?" "Russia" "" "0" "" "" "Russia" "Unknown 601"
"00366342" "" "" "" "1" "" "01695" "{PMID:Sheremet 2017:28980559}" "" "" "?" "Russia" "" "0" "" "" "Russia" "Unknown 602"
"00366343" "" "" "" "1" "" "01695" "{PMID:Ciccone 2018:29028687}" "patient possibly reported by Zernant et al., 2011 and 2014" "M" "?" "United States" "" "0" "" "" "white" "1"
"00366344" "" "" "" "1" "" "01695" "{PMID:Ciccone 2018:29028687}" "patient possibly reported by Zernant et al., 2011 and 2014" "F" "?" "United States" "" "0" "" "" "white" "2"
"00366345" "" "" "" "1" "" "01695" "{PMID:Ciccone 2018:29028687}" "patient possibly reported by Zernant et al., 2011 and 2014" "M" "?" "United States" "" "0" "" "" "India" "3"
"00366346" "" "" "" "1" "" "01695" "{PMID:Ciccone 2018:29028687}" "patient possibly reported by Zernant et al., 2011 and 2014" "F" "?" "United States" "" "0" "" "" "white" "4"
"00366347" "" "" "" "1" "" "01695" "{PMID:Ciccone 2018:29028687}" "patient possibly reported by Zernant et al., 2011 and 2014" "F" "?" "United States" "" "0" "" "" "white" "5"
"00366348" "" "" "" "1" "" "01695" "{PMID:Ciccone 2018:29028687}{PMID:Chen 2019:31015497}" "patient possibly reported by Zernant et al., 2011 and 2014" "M" "?" "United States" "" "0" "" "" "Asia" "8; 34"
"00366349" "" "" "" "1" "" "01695" "{PMID:Avela 2018:29068140}" "" "" "?" "Finland" "" "0" "" "" "Finland" "19"
"00366350" "" "" "" "1" "" "01695" "{PMID:Avela 2018:29068140}" "" "" "?" "Finland" "" "0" "" "" "Finland" "20"
"00366351" "" "" "" "1" "" "01695" "{PMID:Avela 2018:29068140}" "" "" "?" "Finland" "" "0" "" "" "Finland" "36"
"00366352" "" "" "" "1" "" "01695" "{PMID:Avela 2018:29068140}" "" "" "?" "Finland" "" "0" "" "" "Finland" "37"
"00366353" "" "" "" "1" "" "01695" "{PMID:Salles 2017:29114839}" "" "M" "no" "Brazil" "" "0" "" "" "" "Fam A II 1"
"00366354" "" "" "" "1" "" "01695" "{PMID:Salles 2017:29114839}" "" "F" "no" "Brazil" "" "0" "" "" "" "Fam B II 1"
"00366355" "" "" "" "1" "" "01695" "{PMID:Salles 2017:29114839}" "" "M" "no" "Brazil" "" "0" "" "" "" "Fam C III 1"
"00366356" "" "" "" "1" "" "01695" "{PMID:Salles 2017:29114839}{PMID:Salles 2018:30093795}" "" "M" "yes" "Brazil" "" "0" "" "" "" "Fam D II 1; 40"
"00366357" "" "" "" "1" "" "01695" "{PMID:Salles 2017:29114839}" "Sibling of Fam E II 3" "F" "no" "Brazil" "" "0" "" "" "" "Fam E II 1"
"00366358" "" "" "" "1" "" "01695" "{PMID:Salles 2017:29114839}" "Sibling of Fam E II 1" "M" "no" "Brazil" "" "0" "" "" "" "Fam E II 3"
"00366359" "" "" "" "1" "" "01695" "{PMID:Salles 2017:29114839}" "" "M" "no" "Brazil" "" "0" "" "" "" "Fam F II 1"
"00366360" "" "" "" "1" "" "01695" "{PMID:Salles 2017:29114839}" "" "F" "no" "Brazil" "" "0" "" "" "" "Fam G II 1"
"00366361" "" "" "" "1" "" "01695" "{PMID:Salles 2017:29114839}" "" "M" "no" "Brazil" "" "0" "" "" "" "Fam H II 1"
"00366362" "" "" "" "1" "" "01695" "{PMID:Salles 2017:29114839}" "" "M" "no" "Brazil" "" "0" "" "" "" "Fam I II 1"
"00366363" "" "" "" "1" "" "01695" "{PMID:Salles 2017:29114839}" "" "F" "no" "Brazil" "" "0" "" "" "" "Fam J II 2"
"00366364" "" "" "" "1" "" "01695" "{PMID:Salles 2017:29114839}" "Sibling of Fam K II 3" "M" "no" "Brazil" "" "0" "" "" "" "Fam K II 2"
"00366365" "" "" "" "1" "" "01695" "{PMID:Salles 2017:29114839}" "Sibling of Fam K II 2" "F" "no" "Brazil" "" "0" "" "" "" "Fam K II 3"
"00366366" "" "" "" "1" "" "01695" "{PMID:Salles 2017:29114839}" "parent of Fam L II 2" "F" "no" "Brazil" "" "0" "" "" "" "Fam L I 1"
"00366367" "" "" "" "1" "" "01695" "{PMID:Salles 2017:29114839}{PMID:Salles 2018:30093795}" "Child of Fam L I 1" "F" "no" "Brazil" "" "0" "" "" "" "Fam L II 2; 43"
"00366368" "" "" "" "1" "" "01695" "{PMID:Salles 2017:29114839}" "" "M" "no" "Brazil" "" "0" "" "" "" "Fam M II 1"
"00366369" "" "" "" "1" "" "01695" "{PMID:Salles 2017:29114839}" "Sibling of Fam N II 2" "M" "no" "Brazil" "" "0" "" "" "" "Fam N II 1"
"00366370" "" "" "" "1" "" "01695" "{PMID:Salles 2017:29114839}" "Sibling of Fam N II 1" "F" "no" "Brazil" "" "0" "" "" "" "Fam N II 2"
"00366371" "" "" "" "1" "" "01695" "{PMID:Cai 2018:29126757}" "" "M" "?" "United States" "" "0" "" "" "" "P2"
"00366372" "" "" "" "1" "" "01695" "{PMID:Cai 2018:29126757}" "" "F" "?" "United States" "" "0" "" "" "" "P4"
"00366373" "" "" "" "1" "" "01695" "{PMID:Cai 2018:29126757}" "" "F" "?" "United States" "" "0" "" "" "" "P5"
"00366374" "" "" "" "1" "" "01695" "{PMID:Cai 2018:29126757}" "" "F" "?" "United States" "" "0" "" "" "" "P6"
"00366375" "" "" "" "1" "" "01695" "{PMID:Light 2017:28099317}{PMID:Cai 2018:29126757}" "" "F" "?" "United States" "" "0" "" "" "African American" "P13; P7"
"00366376" "" "" "" "1" "" "01695" "{PMID:Cai 2018:29126757}" "" "F" "?" "United States" "" "0" "" "" "" "P10"
"00366377" "" "" "" "1" "" "01695" "{PMID:Cai 2018:29126757}" "" "M" "?" "United States" "" "0" "" "" "" "P11"
"00366378" "" "" "" "1" "" "01695" "{PMID:Cai 2018:29126757}" "" "F" "?" "United States" "" "0" "" "" "" "P14"
"00366379" "" "" "" "1" "" "01695" "{PMID:Cai 2018:29126757}" "" "M" "?" "United States" "" "0" "" "" "" "P15"
"00366380" "" "" "" "1" "" "01695" "{PMID:Cai 2018:29126757}" "" "F" "?" "United States" "" "0" "" "" "" "P16"
"00366381" "" "" "" "1" "" "01695" "{PMID:Abed 2018:29178665}" "" "F" "?" "Italy" "" "0" "" "" "" "1"
"00366382" "" "" "" "1" "" "01695" "{PMID:Abed 2018:29178665}" "" "F" "?" "Italy" "" "0" "" "" "" "2"
"00366383" "" "" "" "1" "" "01695" "{PMID:Abed 2018:29178665}" "" "M" "?" "Italy" "" "0" "" "" "" "3"
"00366384" "" "" "" "1" "" "01695" "{PMID:Abed 2018:29178665}" "" "M" "?" "Italy" "" "0" "" "" "" "4"
"00366385" "" "" "" "1" "" "01695" "{PMID:Abed 2018:29178665}" "" "F" "?" "Italy" "" "0" "" "" "" "5"
"00366386" "" "" "" "1" "" "01695" "{PMID:Abed 2018:29178665}" "" "M" "?" "Italy" "" "0" "" "" "" "6"
"00366387" "" "" "" "1" "" "01695" "{PMID:Abed 2018:29178665}" "" "M" "?" "Italy" "" "0" "" "" "" "7"
"00366388" "" "" "" "1" "" "01695" "{PMID:Abed 2018:29178665}" "" "M" "?" "Italy" "" "0" "" "" "" "8"
"00366389" "" "" "" "1" "" "01695" "{PMID:Abed 2018:29178665}" "" "F" "?" "Italy" "" "0" "" "" "" "9"
"00366390" "" "" "" "1" "" "01695" "{PMID:Abed 2018:29178665}" "" "M" "?" "Italy" "" "0" "" "" "" "10"
"00366391" "" "" "" "1" "" "01695" "{PMID:Abed 2018:29178665}" "" "M" "?" "Italy" "" "0" "" "" "" "11"
"00366392" "" "" "" "1" "" "01695" "{PMID:Abed 2018:29178665}" "" "F" "?" "Italy" "" "0" "" "" "" "12"
"00366393" "" "" "" "1" "" "01695" "{PMID:Abed 2018:29178665}" "" "M" "?" "Italy" "" "0" "" "" "" "13"
"00366394" "" "" "" "1" "" "01695" "{PMID:Abed 2018:29178665}" "" "M" "?" "Italy" "" "0" "" "" "" "14"
"00366395" "" "" "" "1" "" "01695" "{PMID:Abed 2018:29178665}" "" "M" "?" "Italy" "" "0" "" "" "" "15"
"00366396" "" "" "" "1" "" "01695" "{PMID:Abed 2018:29178665}" "" "M" "?" "Italy" "" "0" "" "" "" "16"
"00366397" "" "" "" "1" "" "01695" "{PMID:Abed 2018:29178665}" "" "M" "?" "Italy" "" "0" "" "" "" "17"
"00366398" "" "" "" "1" "" "01695" "{PMID:Abed 2018:29178665}" "" "F" "?" "Italy" "" "0" "" "" "" "18"
"00366399" "" "" "" "1" "" "01695" "{PMID:Abed 2018:29178665}" "" "M" "?" "Italy" "" "0" "" "" "" "19"
"00366400" "" "" "" "1" "" "01695" "{PMID:Abed 2018:29178665}" "" "M" "?" "Italy" "" "0" "" "" "" "20"
"00366401" "" "" "" "1" "" "01695" "{PMID:Abed 2018:29178665}" "" "F" "?" "Italy" "" "0" "" "" "" "21"
"00366402" "" "" "" "1" "" "01695" "{PMID:Abed 2018:29178665}" "" "F" "?" "Italy" "" "0" "" "" "" "22"
"00366403" "" "" "" "1" "" "01695" "{PMID:Abed 2018:29178665}" "" "F" "?" "Italy" "" "0" "" "" "" "23"
"00366404" "" "" "" "1" "" "01695" "{PMID:Abed 2018:29178665}" "" "F" "?" "Italy" "" "0" "" "" "" "24"
"00366405" "" "" "" "1" "" "01695" "{PMID:Abed 2018:29178665}" "" "M" "?" "Italy" "" "0" "" "" "" "25"
"00366406" "" "" "" "1" "" "01695" "{PMID:Abed 2018:29178665}" "" "F" "?" "Italy" "" "0" "" "" "" "26"
"00366407" "" "" "" "1" "" "01695" "{PMID:Abed 2018:29178665}" "" "F" "?" "Italy" "" "0" "" "" "" "27"
"00366408" "" "" "" "1" "" "01695" "{PMID:Abed 2018:29178665}" "" "F" "?" "Italy" "" "0" "" "" "" "28"
"00366409" "" "" "" "1" "" "01695" "{PMID:Abed 2018:29178665}" "" "F" "?" "Italy" "" "0" "" "" "" "29"
"00366410" "" "" "" "1" "" "01695" "{PMID:Abed 2018:29178665}" "" "F" "?" "Italy" "" "0" "" "" "" "30"
"00366411" "" "" "" "1" "" "01695" "{PMID:Abed 2018:29178665}" "Sibling of patient 32" "M" "?" "Italy" "" "0" "" "" "" "31"
"00366412" "" "" "" "1" "" "01695" "{PMID:Abed 2018:29178665}" "Sibling of patient 31" "M" "?" "Italy" "" "0" "" "" "" "32"
"00366413" "" "" "" "1" "" "01695" "{PMID:Abed 2018:29178665}" "Sibling of patient 34" "M" "?" "Italy" "" "0" "" "" "" "33"
"00366414" "" "" "" "1" "" "01695" "{PMID:Abed 2018:29178665}" "Sibling of patient 33" "F" "?" "Italy" "" "0" "" "" "" "34"
"00366415" "" "" "" "1" "" "01695" "{PMID:Abed 2018:29178665}" "" "F" "?" "Italy" "" "0" "" "" "" "35"
"00366416" "" "" "" "1" "" "01695" "{PMID:Lin 2018:29207047}" "Another mutation was found in (LRP5) c.260T>G (p.I87S), 2 children affected too, carrying the same two mutations" "M" "?" "China" "" "0" "" "" "" "I:1"
"00366417" "" "" "" "1" "" "01695" "{PMID:Zhao 2018:29288030}" "mutations were not reported per patient; these 33 mutations were present in 14 patients" "" "?" "United States" "" "0" "" "" "" "Unknown 603"
"00366418" "" "" "" "1" "" "01695" "{PMID:Zhao 2018:29288030}" "mutations were not reported per patient; these 33 mutations were present in 14 patients" "" "?" "United States" "" "0" "" "" "" "Unknown 604"
"00366419" "" "" "" "1" "" "01695" "{PMID:Zhao 2018:29288030}" "mutations were not reported per patient; these 33 mutations were present in 14 patients" "" "?" "United States" "" "0" "" "" "" "Unknown 605"
"00366420" "" "" "" "1" "" "01695" "{PMID:Zhao 2018:29288030}" "mutations were not reported per patient; these 33 mutations were present in 14 patients" "" "?" "United States" "" "0" "" "" "" "Unknown 606"
"00366421" "" "" "" "1" "" "01695" "{PMID:Zhao 2018:29288030}" "mutations were not reported per patient; these 33 mutations were present in 14 patients" "" "?" "United States" "" "0" "" "" "" "Unknown 607"
"00366422" "" "" "" "1" "" "01695" "{PMID:Zhao 2018:29288030}" "mutations were not reported per patient; these 33 mutations were present in 14 patients" "" "?" "United States" "" "0" "" "" "" "Unknown 608"
"00366423" "" "" "" "1" "" "01695" "{PMID:Zhao 2018:29288030}" "mutations were not reported per patient; these 33 mutations were present in 14 patients" "" "?" "United States" "" "0" "" "" "" "Unknown 609"
"00366424" "" "" "" "1" "" "01695" "{PMID:Zhao 2018:29288030}" "mutations were not reported per patient; these 33 mutations were present in 14 patients" "" "?" "United States" "" "0" "" "" "" "Unknown 610"
"00366425" "" "" "" "1" "" "01695" "{PMID:Zhao 2018:29288030}" "mutations were not reported per patient; these 33 mutations were present in 14 patients" "" "?" "United States" "" "0" "" "" "" "Unknown 611"
"00366426" "" "" "" "1" "" "01695" "{PMID:Zhao 2018:29288030}" "mutations were not reported per patient; these 33 mutations were present in 14 patients" "" "?" "United States" "" "0" "" "" "" "Unknown 612"
"00366427" "" "" "" "1" "" "01695" "{PMID:Zhao 2018:29288030}" "mutations were not reported per patient; these 33 mutations were present in 14 patients" "" "?" "United States" "" "0" "" "" "" "Unknown 613"
"00366428" "" "" "" "1" "" "01695" "{PMID:Zhao 2018:29288030}" "mutations were not reported per patient; these 33 mutations were present in 14 patients" "" "?" "United States" "" "0" "" "" "" "Unknown 614"
"00366429" "" "" "" "1" "" "01695" "{PMID:Zhao 2018:29288030}" "mutations were not reported per patient; these 33 mutations were present in 14 patients" "" "?" "United States" "" "0" "" "" "" "Unknown 615"
"00366430" "" "" "" "1" "" "01695" "{PMID:Zhao 2018:29288030}" "mutations were not reported per patient; these 33 mutations were present in 14 patients" "" "?" "United States" "" "0" "" "" "" "Unknown 616"
"00366431" "" "" "" "1" "" "01695" "{PMID:Zhao 2018:29288030}" "mutations were not reported per patient; these 33 mutations were present in 14 patients" "" "?" "United States" "" "0" "" "" "" "Unknown 617"
"00366432" "" "" "" "1" "" "01695" "{PMID:Zhao 2018:29288030}" "mutations were not reported per patient; these 33 mutations were present in 14 patients" "" "?" "United States" "" "0" "" "" "" "Unknown 618"
"00366433" "" "" "" "1" "" "01695" "{PMID:Zhao 2018:29288030}" "mutations were not reported per patient; these 33 mutations were present in 14 patients" "" "?" "United States" "" "0" "" "" "" "Unknown 619"
"00366434" "" "" "" "1" "" "01695" "{PMID:Zhao 2018:29288030}" "mutations were not reported per patient; these 33 mutations were present in 14 patients" "" "?" "United States" "" "0" "" "" "" "Unknown 620"
"00366435" "" "" "" "1" "" "01695" "{PMID:Zhao 2018:29288030}" "mutations were not reported per patient; these 33 mutations were present in 14 patients" "" "?" "United States" "" "0" "" "" "" "Unknown 621"
"00366436" "" "" "" "1" "" "01695" "{PMID:Zhao 2018:29288030}" "mutations were not reported per patient; these 33 mutations were present in 14 patients" "" "?" "United States" "" "0" "" "" "" "Unknown 622"
"00366437" "" "" "" "1" "" "01695" "{PMID:Zhao 2018:29288030}" "mutations were not reported per patient; these 33 mutations were present in 14 patients" "" "?" "United States" "" "0" "" "" "" "Unknown 623"
"00366438" "" "" "" "1" "" "01695" "{PMID:Zhao 2018:29288030}" "mutations were not reported per patient; these 33 mutations were present in 14 patients" "" "?" "United States" "" "0" "" "" "" "Unknown 624"
"00366439" "" "" "" "1" "" "01695" "{PMID:Zhao 2018:29288030}" "mutations were not reported per patient; these 33 mutations were present in 14 patients" "" "?" "United States" "" "0" "" "" "" "Unknown 625"
"00366440" "" "" "" "1" "" "01695" "{PMID:Zhao 2018:29288030}" "mutations were not reported per patient; these 33 mutations were present in 14 patients" "" "?" "United States" "" "0" "" "" "" "Unknown 626"
"00366441" "" "" "" "1" "" "01695" "{PMID:Zhao 2018:29288030}" "mutations were not reported per patient; these 33 mutations were present in 14 patients" "" "?" "United States" "" "0" "" "" "" "Unknown 627"
"00366442" "" "" "" "1" "" "01695" "{PMID:Zhao 2018:29288030}" "mutations were not reported per patient; these 33 mutations were present in 14 patients" "" "?" "United States" "" "0" "" "" "" "Unknown 628"
"00366443" "" "" "" "1" "" "01695" "{PMID:Zhao 2018:29288030}" "mutations were not reported per patient; these 33 mutations were present in 14 patients" "" "?" "United States" "" "0" "" "" "" "Unknown 629"
"00366444" "" "" "" "1" "" "01695" "{PMID:Zhao 2018:29288030}" "mutations were not reported per patient; these 33 mutations were present in 14 patients" "" "?" "United States" "" "0" "" "" "" "Unknown 630"
"00366445" "" "" "" "1" "" "01695" "{PMID:Zhao 2018:29288030}" "mutations were not reported per patient; these 33 mutations were present in 14 patients" "" "?" "United States" "" "0" "" "" "" "Unknown 631"
"00366446" "" "" "" "1" "" "01695" "{PMID:Zhao 2018:29288030}" "mutations were not reported per patient; these 33 mutations were present in 14 patients" "" "?" "United States" "" "0" "" "" "" "Unknown 632"
"00366447" "" "" "" "1" "" "01695" "{PMID:Zhao 2018:29288030}" "mutations were not reported per patient; these 33 mutations were present in 14 patients" "" "?" "United States" "" "0" "" "" "" "Unknown 633"
"00366448" "" "" "" "1" "" "01695" "{PMID:Zhao 2018:29288030}" "mutations were not reported per patient; these 33 mutations were present in 14 patients" "" "?" "United States" "" "0" "" "" "" "Unknown 634"
"00366449" "" "" "" "1" "" "01695" "{PMID:Zhao 2018:29288030}" "mutations were not reported per patient; these 33 mutations were present in 14 patients" "" "?" "United States" "" "0" "" "" "" "Unknown 635"
"00366450" "" "" "" "1" "" "01695" "{PMID:Khan 2018:29310964}" "" "" "?" "" "" "0" "" "" "" "12149124"
"00366451" "" "" "" "1" "" "01695" "{PMID:Khan 2018:29310964}" "" "" "?" "" "" "0" "" "" "" "21947341"
"00366452" "" "" "" "1" "" "01695" "{PMID:Khan 2018:29310964}" "" "" "?" "" "" "0" "" "" "" "31625765"
"00366453" "" "" "" "1" "" "01695" "{PMID:Khan 2018:29310964}" "" "" "?" "" "" "0" "" "" "" "42215152"
"00366454" "" "" "" "1" "" "01695" "{PMID:Khan 2018:29310964}" "" "" "?" "" "" "0" "" "" "" "51927327"
"00366455" "" "" "" "1" "" "01695" "{PMID:Khan 2018:29310964}" "" "" "?" "" "" "0" "" "" "" "61879914"
"00366456" "" "" "" "1" "" "01695" "{PMID:Khan 2018:29310964}" "" "" "?" "" "" "0" "" "" "" "8K1"
"00366457" "" "" "" "1" "" "01695" "{PMID:Schroeder 2018:29386879}" "" "M" "?" "Sweden" "" "0" "" "" "" "1"
"00366458" "" "" "" "1" "" "01695" "{PMID:Schroeder 2018:29386879}" "" "F" "?" "Sweden" "" "0" "" "" "" "2"
"00366459" "" "" "" "1" "" "01695" "{PMID:Schroeder 2018:29386879}" "" "F" "?" "Sweden" "" "0" "" "" "" "3"
"00366460" "" "" "" "1" "" "01695" "{PMID:Schroeder 2018:29386879}" "" "M" "?" "Sweden" "" "0" "" "" "" "4"
"00366461" "" "" "" "1" "" "01695" "{PMID:Schroeder 2018:29386879}" "" "F" "?" "Sweden" "" "0" "" "" "" "5"
"00366462" "" "" "" "1" "" "01695" "{PMID:Schroeder 2018:29386879}" "" "F" "?" "Sweden" "" "0" "" "" "" "6"
"00366463" "" "" "" "1" "" "01695" "{PMID:Schroeder 2018:29386879}" "" "F" "?" "Sweden" "" "0" "" "" "" "7"
"00366464" "" "" "" "1" "" "01695" "{PMID:Schroeder 2018:29386879}" "" "F" "?" "Sweden" "" "0" "" "" "" "8"
"00366465" "" "" "" "1" "" "01695" "{PMID:Schroeder 2018:29386879}" "" "F" "?" "Sweden" "" "0" "" "" "" "9"
"00366466" "" "" "" "1" "" "01695" "{PMID:Schroeder 2018:29386879}" "" "F" "?" "Sweden" "" "0" "" "" "" "10"
"00366467" "" "" "" "1" "" "01695" "{PMID:Schroeder 2018:29386879}" "" "M" "?" "Sweden" "" "0" "" "" "" "11"
"00366468" "" "" "" "1" "" "01695" "{PMID:Schroeder 2018:29386879}" "" "M" "?" "Sweden" "" "0" "" "" "" "12"
"00366469" "" "" "" "1" "" "01695" "{PMID:Schroeder 2018:29386879}" "" "M" "?" "Sweden" "" "0" "" "" "" "13"
"00366470" "" "" "" "1" "" "01695" "{PMID:Schroeder 2018:29386879}" "" "F" "?" "Sweden" "" "0" "" "" "" "14"
"00366471" "" "" "" "1" "" "01695" "{PMID:Schroeder 2018:29386879}" "" "F" "?" "Sweden" "" "0" "" "" "" "15"
"00366472" "" "" "" "1" "" "01695" "{PMID:Schroeder 2018:29386879}" "" "M" "?" "Sweden" "" "0" "" "" "" "16"
"00366473" "" "" "" "1" "" "01695" "{PMID:Schroeder 2018:29386879}" "" "M" "?" "Sweden" "" "0" "" "" "" "17"
"00366474" "" "" "" "1" "" "01695" "{PMID:Schroeder 2018:29386879}" "" "F" "?" "Sweden" "" "0" "" "" "" "18"
"00366475" "" "" "" "1" "" "01695" "{PMID:Schroeder 2018:29386879}" "" "M" "?" "Sweden" "" "0" "" "" "" "19"
"00366476" "" "" "" "1" "" "01695" "{PMID:Schroeder 2018:29386879}" "" "F" "?" "Sweden" "" "0" "" "" "" "20"
"00366477" "" "" "" "1" "" "01695" "{PMID:Schroeder 2018:29386879}" "" "F" "?" "Sweden" "" "0" "" "" "" "21"
"00366478" "" "" "" "1" "" "01695" "{PMID:Schroeder 2018:29386879}" "" "M" "?" "Sweden" "" "0" "" "" "" "22"
"00366479" "" "" "" "1" "" "01695" "{PMID:Schroeder 2018:29386879}" "" "F" "?" "Sweden" "" "0" "" "" "" "23"
"00366480" "" "" "" "1" "" "01695" "{PMID:Schroeder 2018:29386879}" "" "F" "?" "Sweden" "" "0" "" "" "" "24"
"00366481" "" "" "" "1" "" "01695" "{PMID:Schroeder 2018:29386879}" "" "F" "?" "Sweden" "" "0" "" "" "" "25"
"00366482" "" "" "" "1" "" "01695" "{PMID:Schroeder 2018:29386879}" "" "M" "?" "Sweden" "" "0" "" "" "" "26"
"00366483" "" "" "" "1" "" "01695" "{PMID:Schroeder 2018:29386879}" "" "F" "?" "Sweden" "" "0" "" "" "" "27"
"00366484" "" "" "" "1" "" "01695" "{PMID:Schroeder 2018:29386879}" "" "F" "?" "Sweden" "" "0" "" "" "" "28"
"00366485" "" "" "" "1" "" "01695" "{PMID:Schroeder 2018:29386879}" "" "M" "?" "Sweden" "" "0" "" "" "" "29"
"00366486" "" "" "" "1" "" "01695" "{PMID:Schroeder 2018:29386879}" "" "M" "?" "Sweden" "" "0" "" "" "" "30"
"00366487" "" "" "" "1" "" "01695" "{PMID:Schroeder 2018:29386879}" "" "F" "?" "Sweden" "" "0" "" "" "" "31"
"00366488" "" "" "" "1" "" "01695" "{PMID:Schroeder 2018:29386879}" "" "M" "?" "Sweden" "" "0" "" "" "" "32"
"00366489" "" "" "" "1" "" "01695" "{PMID:Schroeder 2018:29386879}" "" "M" "?" "Sweden" "" "0" "" "" "" "33"
"00366490" "" "" "" "1" "" "01695" "{PMID:Schroeder 2018:29386879}" "" "F" "?" "Sweden" "" "0" "" "" "" "34"
"00366491" "" "" "" "1" "" "01695" "{PMID:López-Rubio 2018:29422768}" "" "F" "?" "Mexico" "" "0" "" "" "Mexico-C" "P1"
"00366492" "" "" "" "1" "" "01695" "{PMID:López-Rubio 2018:29422768}" "" "F" "?" "Mexico" "" "0" "" "" "Mexico-C" "P2"
"00366493" "" "" "" "1" "" "01695" "{PMID:López-Rubio 2018:29422768}" "" "F" "?" "Mexico" "" "0" "" "" "Mexico-C" "P3"
"00366494" "" "" "" "1" "" "01695" "{PMID:López-Rubio 2018:29422768}" "" "F" "?" "Mexico" "" "0" "" "" "Mexico-C" "P4"
"00366495" "" "" "" "1" "" "01695" "{PMID:López-Rubio 2018:29422768}" "" "F" "?" "Mexico" "" "0" "" "" "Mexico-C" "P5"
"00366496" "" "" "" "1" "" "01695" "{PMID:López-Rubio 2018:29422768}" "" "F" "?" "Mexico" "" "0" "" "" "Mexico-C" "P6"
"00366497" "" "" "" "1" "" "01695" "{PMID:López-Rubio 2018:29422768}" "" "F" "?" "Mexico" "" "0" "" "" "Mexico-C" "P7"
"00366498" "" "" "" "1" "" "01695" "{PMID:López-Rubio 2018:29422768}" "" "M" "?" "Mexico" "" "0" "" "" "Mexico-C" "P8"
"00366499" "" "" "" "1" "" "01695" "{PMID:López-Rubio 2018:29422768}" "" "M" "?" "Mexico" "" "0" "" "" "Mexico-C" "P9"
"00366500" "" "" "" "1" "" "01695" "{PMID:López-Rubio 2018:29422768}" "" "F" "?" "Mexico" "" "0" "" "" "Mexico-C" "P10"
"00366501" "" "" "" "1" "" "01695" "{PMID:Huang 2018:29437900}" "sibling of IV: 3 and IV:4" "M" "yes" "China" "" "0" "" "" "China" "IV:1"
"00366502" "" "" "" "1" "" "01695" "{PMID:Huang 2018:29437900}" "sibling of IV: 1 and IV:4" "M" "yes" "China" "" "0" "" "" "China" "IV:3"
"00366503" "" "" "" "1" "" "01695" "{PMID:Huang 2018:29437900}" "sibling of IV: 1 and IV:3" "F" "yes" "China" "" "0" "" "" "China" "IV:4"
"00366504" "" "" "" "1" "" "01695" "{PMID:Essilfie 2018:29470301}" "" "F" "?" "United States" "" "0" "" "" "white" "Unknown 636"
"00366505" "" "" "" "1" "" "01695" "{PMID:Melillo 2018:29625472}" "" "F" "?" "Italy" "" "0" "" "" "" "1"
"00366506" "" "" "" "1" "" "01695" "{PMID:Melillo 2018:29625472}" "" "M" "?" "Italy" "" "0" "" "" "" "2"
"00366507" "" "" "" "1" "" "01695" "{PMID:Melillo 2018:29625472}" "" "M" "?" "Italy" "" "0" "" "" "" "3"
"00366508" "" "" "" "1" "" "01695" "{PMID:Melillo 2018:29625472}{PMID:Melillo 2020:32821503}" "" "F" "?" "Italy" "" "0" "" "" "" "4; T4"
"00366509" "" "" "" "1" "" "01695" "{PMID:Melillo 2018:29625472}{PMID:Melillo 2020:32821503}" "" "M" "?" "Italy" "" "0" "" "" "" "6; T6"
"00366510" "" "" "" "1" "" "01695" "{PMID:Melillo 2018:29625472}" "" "F" "?" "Italy" "" "0" "" "" "" "7"
"00366511" "" "" "" "1" "" "01695" "{PMID:Melillo 2018:29625472}" "" "M" "?" "Italy" "" "0" "" "" "" "8"
"00366512" "" "" "" "1" "" "01695" "{PMID:Melillo 2018:29625472}" "" "M" "?" "Italy" "" "0" "" "" "" "10"
"00366513" "" "" "" "1" "" "01695" "{PMID:Melillo 2018:29625472}{PMID:Melillo 2020:32821503}" "" "M" "?" "Italy" "" "0" "" "" "" "12; C1"
"00366514" "" "" "" "1" "" "01695" "{PMID:Melillo 2018:29625472}" "" "M" "?" "Italy" "" "0" "" "" "" "18"
"00366515" "" "" "" "1" "" "01695" "{PMID:Melillo 2018:29625472}" "likely sibling of pt 20" "M" "?" "Italy" "" "0" "" "" "" "19"
"00366516" "" "" "" "1" "" "01695" "{PMID:Melillo 2018:29625472}" "likely sibling of pt 19" "M" "?" "Italy" "" "0" "" "" "" "20"
"00366517" "" "" "" "1" "" "01695" "{PMID:Melillo 2018:29625472}" "" "F" "?" "Italy" "" "0" "" "" "" "21"
"00366518" "" "" "" "1" "" "01695" "{PMID:Melillo 2018:29625472}" "" "M" "?" "Italy" "" "0" "" "" "" "22"
"00366519" "" "" "" "1" "" "01695" "{PMID:Melillo 2018:29625472}" "" "F" "?" "Italy" "" "0" "" "" "" "24"
"00366531" "" "" "" "1" "" "01695" "{PMID:Falfoul 2018:29736279}" "sibling and cousin of the other patients in this family, consanguinous" "M" "yes" "Tunisia" "" "0" "" "" "Tunisia" "III:3"
"00366532" "" "" "" "1" "" "01695" "{PMID:Falfoul 2018:29736279}" "sibling and cousin of the other patients in this family, consanguinous" "M" "yes" "Tunisia" "" "0" "" "" "Tunisia" "III:6"
"00366533" "" "" "" "1" "" "01695" "{PMID:Falfoul 2018:29736279}" "sibling and cousin of the other patients in this family, consanguinous" "F" "yes" "Tunisia" "" "0" "" "" "Tunisia" "III:7"
"00366534" "" "" "" "1" "" "01695" "{PMID:Falfoul 2018:29736279}" "sibling and cousin of the other patients in this family, consanguinous" "F" "yes" "Tunisia" "" "0" "" "" "Tunisia" "FamPatIII8"
"00366535" "" "" "" "1" "" "01695" "{PMID:Falfoul 2018:29736279}" "sibling and cousin of the other patients in this family, consanguinous" "M" "yes" "Tunisia" "" "0" "" "" "Tunisia" "FamPatIII10"
"00366536" "" "" "" "1" "" "01695" "{PMID:Mahroo 2018:29765157}" "A homozygous mutation in ABCC6 gene (c.708_709dupCT, p. (Trp237fsX21) was found too" "M" "yes" "" "" "0" "" "" "Somalia" "Unknown 637"
"00366537" "" "" "" "1" "" "01695" "{PMID:Wawrocka 2018:29769798}" "" "F" "?" "Poland" "" "0" "" "" "Poland" "Family 3"
"00366538" "" "" "" "1" "" "01695" "{PMID:Garces 2018:29847635}" "Sibling of patient 3" "" "?" "Canada" "" "0" "" "" "" "2"
"00366539" "" "" "" "1" "" "01695" "{PMID:Garces 2018:29847635}" "Sibling of patient 2" "" "?" "Canada" "" "0" "" "" "" "3"
"00366540" "" "" "" "1" "" "01695" "{PMID:Garces 2018:29847635}" "" "" "?" "Canada" "" "0" "" "" "" "4"
"00366541" "" "" "" "1" "" "01695" "{PMID:Garces 2018:29847635}" "" "" "?" "Canada" "" "0" "" "" "" "5"
"00366542" "" "" "" "1" "" "01695" "{PMID:Garces 2018:29847635}" "" "" "?" "Canada" "" "0" "" "" "" "6"
"00366543" "" "" "" "1" "" "01695" "{PMID:Garces 2018:29847635}" "" "" "?" "Canada" "" "0" "" "" "" "8"
"00366544" "" "" "" "1" "" "01695" "{PMID:Garces 2018:29847635}" "" "" "?" "Canada" "" "0" "" "" "" "9"
"00366545" "" "" "" "1" "" "01695" "{PMID:Garces 2018:29847635}" "" "" "?" "Canada" "" "0" "" "" "" "10"
"00366546" "" "" "" "1" "" "01695" "{PMID:Garces 2018:29847635}" "" "" "?" "Canada" "" "0" "" "" "" "11"
"00366547" "" "" "" "1" "" "01695" "{PMID:Garces 2018:29847635}" "" "" "?" "Canada" "" "0" "" "" "" "12"
"00366548" "" "" "" "1" "" "01695" "{PMID:Paavo 2018:29847651}" "" "" "?" "United States" "" "0" "" "" "white" "1"
"00366549" "" "" "" "1" "" "01695" "{PMID:Paavo 2018:29847651}" "" "" "?" "United States" "" "0" "" "" "India" "2"
"00366550" "" "" "" "1" "" "01695" "{PMID:Paavo 2018:29847651}" "" "" "?" "United States" "" "0" "" "" "white" "3"
"00366551" "" "" "" "1" "" "01695" "{PMID:Paavo 2018:29847651}" "" "" "?" "United States" "" "0" "" "" "white" "4"
"00366552" "" "" "" "1" "" "01695" "{PMID:Paavo 2018:29847651}" "" "" "?" "United States" "" "0" "" "" "white" "5"
"00366553" "" "" "" "1" "" "01695" "{PMID:Paavo 2018:29847651}" "" "" "?" "United States" "" "0" "" "" "white" "6"
"00366554" "" "" "" "1" "" "01695" "{PMID:Paavo 2018:29847651}" "" "" "?" "United States" "" "0" "" "" "white" "7"
"00366555" "" "" "" "1" "" "01695" "{PMID:Paavo 2018:29847651}" "" "" "?" "United States" "" "0" "" "" "white" "8"
"00366556" "" "" "" "1" "" "01695" "{PMID:Paavo 2018:29847651}" "" "" "?" "United States" "" "0" "" "" "white" "9"
"00366557" "" "" "" "1" "" "01695" "{PMID:Paavo 2018:29847651}" "" "" "?" "United States" "" "0" "" "" "white" "10"
"00366558" "" "" "" "1" "" "01695" "{PMID:Paavo 2018:29847651}" "" "" "?" "United States" "" "0" "" "" "white" "11"
"00366559" "" "" "" "1" "" "01695" "{PMID:Paavo 2018:29847651}" "" "" "?" "United States" "" "0" "" "" "white" "12"
"00366560" "" "" "" "1" "" "01695" "{PMID:Paavo 2018:29847651}" "" "" "?" "United States" "" "0" "" "" "white" "13"
"00366561" "" "" "" "1" "" "01695" "{PMID:Paavo 2018:29847651}" "" "" "?" "United States" "" "0" "" "" "African Arabian" "14"
"00366562" "" "" "" "1" "" "01695" "{PMID:Paavo 2018:29847651}" "" "" "?" "United States" "" "0" "" "" "white" "15"
"00366563" "" "" "" "1" "" "01695" "{PMID:Paavo 2018:29847651}" "" "" "?" "United States" "" "0" "" "" "white" "16"
"00366564" "" "" "" "1" "" "01695" "{PMID:Paavo 2018:29847651}" "" "" "?" "United States" "" "0" "" "" "India" "17"
"00366565" "" "" "" "1" "" "01695" "{PMID:Paavo 2018:29847651}" "" "" "?" "United States" "" "0" "" "" "white" "18"
"00366566" "" "" "" "1" "" "01695" "{PMID:Paavo 2018:29847651}" "" "" "?" "United States" "" "0" "" "" "white" "19"
"00366567" "" "" "" "1" "" "01695" "{PMID:Paavo 2018:29847651}" "" "" "?" "United States" "" "0" "" "" "white" "20"
"00366568" "" "" "" "1" "" "01695" "{PMID:Paavo 2018:29847651}" "" "" "?" "United States" "" "0" "" "" "white" "21"
"00366569" "" "" "" "1" "" "01695" "{PMID:Paavo 2018:29847651}" "" "" "?" "United States" "" "0" "" "" "white" "22"
"00366570" "" "" "" "1" "" "01695" "{PMID:Paavo 2018:29847651}" "" "" "?" "United States" "" "0" "" "" "white" "23"
"00366571" "" "" "" "1" "" "01695" "{PMID:Paavo 2018:29847651}" "" "" "?" "United States" "" "0" "" "" "white" "24"
"00366572" "" "" "" "1" "" "01695" "{PMID:Paavo 2018:29847651}" "" "" "?" "United States" "" "0" "" "" "white" "25"
"00366573" "" "" "" "1" "" "01695" "{PMID:Zernant 2018:29848554}" "" "" "?" "" "" "0" "" "" "Non-Finnish European" "1"
"00366574" "" "" "" "1" "" "01695" "{PMID:Zernant 2018:29848554}" "" "" "?" "" "" "0" "" "" "Non-Finnish European" "2"
"00366575" "" "" "" "1" "" "01695" "{PMID:Zernant 2018:29848554}" "" "" "?" "" "" "0" "" "" "Non-Finnish European" "3"
"00366576" "" "" "" "1" "" "01695" "{PMID:Zernant 2018:29848554}" "" "" "?" "" "" "0" "" "" "Non-Finnish European" "4"
"00366577" "" "" "" "1" "" "01695" "{PMID:Zernant 2018:29848554}" "" "" "?" "" "" "0" "" "" "Non-Finnish European" "5"
"00366578" "" "" "" "1" "" "01695" "{PMID:Zernant 2018:29848554}" "" "" "?" "" "" "0" "" "" "Non-Finnish European" "6"
"00366579" "" "" "" "1" "" "01695" "{PMID:Zernant 2018:29848554}" "" "" "?" "" "" "0" "" "" "Non-Finnish European" "7"
"00366580" "" "" "" "1" "" "01695" "{PMID:Zernant 2018:29848554}" "" "" "?" "" "" "0" "" "" "Non-Finnish European" "8"
"00366581" "" "" "" "1" "" "01695" "{PMID:Zernant 2018:29848554}" "" "" "?" "" "" "0" "" "" "Non-Finnish European" "9"
"00366582" "" "" "" "1" "" "01695" "{PMID:Zernant 2018:29848554}" "" "" "?" "" "" "0" "" "" "Non-Finnish European" "10"
"00366583" "" "" "" "1" "" "01695" "{PMID:Zernant 2018:29848554}" "" "" "?" "" "" "0" "" "" "Non-Finnish European" "11"
"00366584" "" "" "" "1" "" "01695" "{PMID:Zernant 2018:29848554}" "" "" "?" "" "" "0" "" "" "Non-Finnish European" "12"
"00366585" "" "" "" "1" "" "01695" "{PMID:Zernant 2018:29848554}" "" "" "?" "" "" "0" "" "" "Non-Finnish European" "13"
"00366586" "" "" "" "1" "" "01695" "{PMID:Zernant 2018:29848554}" "" "" "?" "" "" "0" "" "" "Non-Finnish European" "14"
"00366587" "" "" "" "1" "" "01695" "{PMID:Zernant 2018:29848554}" "" "" "?" "" "" "0" "" "" "Non-Finnish European" "15"
"00366588" "" "" "" "1" "" "01695" "{PMID:Zernant 2018:29848554}" "" "" "?" "" "" "0" "" "" "Non-Finnish European" "16"
"00366589" "" "" "" "1" "" "01695" "{PMID:Zernant 2018:29848554}" "" "" "?" "" "" "0" "" "" "Non-Finnish European" "17"
"00366590" "" "" "" "1" "" "01695" "{PMID:Zernant 2018:29848554}" "" "" "?" "" "" "0" "" "" "Non-Finnish European" "18"
"00366591" "" "" "" "1" "" "01695" "{PMID:Zernant 2018:29848554}" "" "" "?" "" "" "0" "" "" "Non-Finnish European" "19"
"00366592" "" "" "" "1" "" "01695" "{PMID:Zernant 2018:29848554}" "" "" "?" "" "" "0" "" "" "Non-Finnish European" "20"
"00366593" "" "" "" "1" "" "01695" "{PMID:Zernant 2018:29848554}" "" "" "?" "" "" "0" "" "" "Non-Finnish European" "21"
"00366594" "" "" "" "1" "" "01695" "{PMID:Zernant 2018:29848554}" "" "" "?" "" "" "0" "" "" "Non-Finnish European" "22"
"00366595" "" "" "" "1" "" "01695" "{PMID:Zernant 2018:29848554}" "" "" "?" "" "" "0" "" "" "Non-Finnish European" "23"
"00366596" "" "" "" "1" "" "01695" "{PMID:Zernant 2018:29848554}" "" "" "?" "" "" "0" "" "" "Non-Finnish European" "24"
"00366597" "" "" "" "1" "" "01695" "{PMID:Zernant 2018:29848554}" "" "" "?" "" "" "0" "" "" "Non-Finnish European" "25"
"00366598" "" "" "" "1" "" "01695" "{PMID:Zernant 2018:29848554}" "" "" "?" "" "" "0" "" "" "Non-Finnish European" "26"
"00366599" "" "" "" "1" "" "01695" "{PMID:Zernant 2018:29848554}" "" "" "?" "" "" "0" "" "" "Non-Finnish European" "27"
"00366600" "" "" "" "1" "" "01695" "{PMID:Zernant 2018:29848554}" "" "" "?" "" "" "0" "" "" "Non-Finnish European" "28"
"00366601" "" "" "" "1" "" "01695" "{PMID:Zernant 2018:29848554}" "" "" "?" "" "" "0" "" "" "Non-Finnish European" "29"
"00366602" "" "" "" "1" "" "01695" "{PMID:Zernant 2018:29848554}" "" "" "?" "" "" "0" "" "" "Non-Finnish European" "30"
"00366603" "" "" "" "1" "" "01695" "{PMID:Zernant 2018:29848554}" "" "" "?" "" "" "0" "" "" "Non-Finnish European" "31"
"00366604" "" "" "" "1" "" "01695" "{PMID:Zernant 2018:29848554}" "" "" "?" "" "" "0" "" "" "Non-Finnish European" "32"
"00366605" "" "" "" "1" "" "01695" "{PMID:Zernant 2018:29848554}" "" "" "?" "" "" "0" "" "" "Non-Finnish European" "33"
"00366606" "" "" "" "1" "" "01695" "{PMID:Zernant 2018:29848554}" "" "" "?" "" "" "0" "" "" "Non-Finnish European" "34"
"00366607" "" "" "" "1" "" "01695" "{PMID:Smaragda 2018:29854428}" "" "M" "?" "Greece" "" "0" "" "" "" "ABCA4-47A"
"00366608" "" "" "" "1" "" "01695" "{PMID:Smaragda 2018:29854428}" "" "F" "?" "Greece" "" "0" "" "" "" "F-ABCA4-27"
"00366609" "" "" "" "1" "" "01695" "{PMID:Smaragda 2018:29854428}" "" "F" "?" "Greece" "" "0" "" "" "" "F-ABCA4-37"
"00366610" "" "" "" "1" "" "01695" "{PMID:Smaragda 2018:29854428}" "" "M" "?" "Greece" "" "0" "" "" "" "F-ABCA4-5"
"00366611" "" "" "" "1" "" "01695" "{PMID:Smaragda 2018:29854428}" "" "M" "?" "Greece" "" "0" "" "" "" "F-ATH44"
"00366612" "" "" "" "1" "" "01695" "{PMID:Smaragda 2018:29854428}" "Far cousin of F-ABCA4-33" "F" "?" "Greece" "" "0" "" "" "" "F-ABCA4-31"
"00366613" "" "" "" "1" "" "01695" "{PMID:Smaragda 2018:29854428}" "Far cousin of F-ABCA4-31" "M" "?" "Greece" "" "0" "" "" "" "F-ABCA4-33"
"00366614" "" "" "" "1" "" "01695" "{PMID:Smaragda 2018:29854428}" "" "M" "?" "Greece" "" "0" "" "" "" "F-ATH53"
"00366615" "" "" "" "1" "" "01695" "{PMID:Smaragda 2018:29854428}" "" "F" "?" "Greece" "" "0" "" "" "" "F24"
"00366616" "" "" "" "1" "" "01695" "{PMID:Smaragda 2018:29854428}" "" "F" "?" "Greece" "" "0" "" "" "" "G21"
"00366617" "" "" "" "1" "" "01695" "{PMID:Smaragda 2018:29854428}" "" "F" "?" "Greece" "" "0" "" "" "" "H1"
"00366618" "" "" "" "1" "" "01695" "{PMID:Smaragda 2018:29854428}" "" "M" "?" "Greece" "" "0" "" "" "" "H7"
"00366619" "" "" "" "1" "" "01695" "{PMID:Smaragda 2018:29854428}" "" "F" "?" "Greece" "" "0" "" "" "" "ATH35"
"00366620" "" "" "" "1" "" "01695" "{PMID:Smaragda 2018:29854428}" "" "F" "?" "Greece" "" "0" "" "" "" "ATH37"
"00366621" "" "" "" "1" "" "01695" "{PMID:Smaragda 2018:29854428}" "" "F" "?" "Greece" "" "0" "" "" "" "ATH79A"
"00366622" "" "" "" "1" "" "01695" "{PMID:Smaragda 2018:29854428}" "" "F" "?" "Greece" "" "0" "" "" "" "ABCA4-8A"
"00366623" "" "" "" "1" "" "01695" "{PMID:Smaragda 2018:29854428}" "" "F" "?" "Greece" "" "0" "" "" "" "ABCA4-12A"
"00366624" "" "" "" "1" "" "01695" "{PMID:Smaragda 2018:29854428}" "" "M" "?" "Greece" "" "0" "" "" "" "ABCA4-15A"
"00366625" "" "" "" "1" "" "01695" "{PMID:Smaragda 2018:29854428}" "" "F" "?" "Greece" "" "0" "" "" "" "ABCA4-29A"
"00366626" "" "" "" "1" "" "01695" "{PMID:Smaragda 2018:29854428}" "" "M" "?" "Greece" "" "0" "" "" "" "C24"
"00366627" "" "" "" "1" "" "01695" "{PMID:Smaragda 2018:29854428}" "" "M" "?" "Greece" "" "0" "" "" "" "ABCA4-44A"
"00366628" "" "" "" "1" "" "01695" "{PMID:Smaragda 2018:29854428}" "" "M" "?" "Greece" "" "0" "" "" "" "ABCA4-53A"
"00366629" "" "" "" "1" "" "01695" "{PMID:Smaragda 2018:29854428}" "" "M" "?" "Greece" "" "0" "" "" "" "C22"
"00366630" "" "" "" "1" "" "01695" "{PMID:Smaragda 2018:29854428}" "" "M" "?" "Greece" "" "0" "" "" "" "D22"
"00366631" "" "" "" "1" "" "01695" "{PMID:Smaragda 2018:29854428}" "" "M" "?" "Greece" "" "0" "" "" "" "F8"
"00366632" "" "" "" "1" "" "01695" "{PMID:Smaragda 2018:29854428}" "" "M" "?" "Greece" "" "0" "" "" "" "F13"
"00366633" "" "" "" "1" "" "01695" "{PMID:Smaragda 2018:29854428}" "" "F" "?" "Greece" "" "0" "" "" "" "F25"
"00366634" "" "" "" "1" "" "01695" "{PMID:Smaragda 2018:29854428}" "" "M" "?" "Greece" "" "0" "" "" "" "ATH76A"
"00366635" "" "" "" "1" "" "01695" "{PMID:Smaragda 2018:29854428}" "" "M" "?" "Greece" "" "0" "" "" "" "ABCA4-1A"
"00366636" "" "" "" "1" "" "01695" "{PMID:Smaragda 2018:29854428}" "" "F" "?" "Greece" "" "0" "" "" "" "ABCA4-2A"
"00366637" "" "" "" "1" "" "01695" "{PMID:Smaragda 2018:29854428}" "" "F" "?" "Greece" "" "0" "" "" "" "ABCA4-6A"
"00366638" "" "" "" "1" "" "01695" "{PMID:Smaragda 2018:29854428}" "" "M" "?" "Greece" "" "0" "" "" "" "ABCA4-14A"
"00366639" "" "" "" "1" "" "01695" "{PMID:Smaragda 2018:29854428}" "" "F" "?" "Greece" "" "0" "" "" "" "ABCA4-25A"
"00366640" "" "" "" "1" "" "01695" "{PMID:Smaragda 2018:29854428}" "" "F" "?" "Greece" "" "0" "" "" "" "ABCA4-30A"
"00366641" "" "" "" "1" "" "01695" "{PMID:Smaragda 2018:29854428}" "" "M" "?" "Greece" "" "0" "" "" "" "ABCA4-32A"
"00366642" "" "" "" "1" "" "01695" "{PMID:Smaragda 2018:29854428}" "" "F" "?" "Greece" "" "0" "" "" "" "ABCA4-46A"
"00366643" "" "" "" "1" "" "01695" "{PMID:Smaragda 2018:29854428}" "" "M" "?" "Greece" "" "0" "" "" "" "W16A"
"00366644" "" "" "" "1" "" "01695" "{PMID:Smaragda 2018:29854428}" "" "M" "?" "Greece" "" "0" "" "" "" "F11A"
"00366645" "" "" "" "1" "" "01695" "{PMID:Smaragda 2018:29854428}" "" "M" "?" "Greece" "" "0" "" "" "" "ATH44A"
"00366646" "" "" "" "1" "" "01695" "{PMID:Smaragda 2018:29854428}" "" "F" "?" "Greece" "" "0" "" "" "" "ABCA4-34A"
"00366647" "" "" "" "1" "" "01695" "{PMID:Smaragda 2018:29854428}" "" "F" "?" "Greece" "" "0" "" "" "" "ABCA4-40A"
"00366648" "" "" "" "1" "" "01695" "{PMID:Smaragda 2018:29854428}" "" "F" "?" "Greece" "" "0" "" "" "" "ABCA4-52A"
"00366649" "" "" "" "1" "" "01695" "{PMID:Smaragda 2018:29854428}" "" "M" "?" "Greece" "" "0" "" "" "" "E1"
"00366650" "" "" "" "1" "" "01695" "{PMID:Smaragda 2018:29854428}" "" "F" "?" "Greece" "" "0" "" "" "" "E5"
"00366651" "" "" "" "1" "" "01695" "{PMID:Smaragda 2018:29854428}" "" "M" "?" "Greece" "" "0" "" "" "" "H25"
"00366652" "" "" "" "1" "" "01695" "{PMID:Smaragda 2018:29854428}" "" "F" "?" "Greece" "" "0" "" "" "" "ATH73A"
"00366653" "" "" "" "1" "" "01695" "{PMID:Smaragda 2018:29854428}" "" "F" "?" "Greece" "" "0" "" "" "" "ABCA4-18A"
"00366654" "" "" "" "1" "" "01695" "{PMID:Smaragda 2018:29854428}" "" "F" "?" "Greece" "" "0" "" "" "" "ABCA4-20A"
"00366655" "" "" "" "1" "" "01695" "{PMID:Smaragda 2018:29854428}" "" "F" "?" "Greece" "" "0" "" "" "" "ABCA4-31A"
"00366656" "" "" "" "1" "" "01695" "{PMID:Smaragda 2018:29854428}" "" "M" "?" "Greece" "" "0" "" "" "" "ABCA4-35A"
"00366657" "" "" "" "1" "" "01695" "{PMID:Smaragda 2018:29854428}" "" "F" "?" "Greece" "" "0" "" "" "" "ABCA4-39A"
"00366658" "" "" "" "1" "" "01695" "{PMID:Smaragda 2018:29854428}" "" "M" "?" "Greece" "" "0" "" "" "" "W38A"
"00366659" "" "" "" "1" "" "01695" "{PMID:Smaragda 2018:29854428}" "" "F" "?" "Greece" "" "0" "" "" "" "ABCA4-51A"
"00366660" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United States" "" "0" "" "" "" "11002"
"00366661" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United States" "" "0" "" "" "" "11004"
"00366662" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United States" "" "0" "" "" "" "11006"
"00366663" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United States" "" "0" "" "" "" "11007"
"00366664" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United States" "" "0" "" "" "" "11009"
"00366665" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United States" "" "0" "" "" "" "11010"
"00366666" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United States" "" "0" "" "" "" "11015"
"00366667" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United States" "" "0" "" "" "" "11016"
"00366668" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United States" "" "0" "" "" "" "11017"
"00366669" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United States" "" "0" "" "" "" "11018"
"00366670" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United States" "" "0" "" "" "" "11019"
"00366671" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United States" "" "0" "" "" "" "11020"
"00366672" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United States" "" "0" "" "" "" "11024"
"00366673" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United States" "" "0" "" "" "" "11025"
"00366674" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United States" "" "0" "" "" "" "11026"
"00366675" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United States" "" "0" "" "" "" "11027"
"00366676" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United States" "" "0" "" "" "" "11028"
"00366677" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United States" "" "0" "" "" "" "11029"
"00366678" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United States" "" "0" "" "" "" "11030"
"00366679" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United States" "" "0" "" "" "" "11031"
"00366680" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United States" "" "0" "" "" "" "11032"
"00366681" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United States" "" "0" "" "" "" "11033"
"00366682" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United States" "" "0" "" "" "" "11034"
"00366683" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United States" "" "0" "" "" "" "12004"
"00366684" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United States" "" "0" "" "" "" "12005"
"00366685" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United States" "" "0" "" "" "" "12006"
"00366686" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United States" "" "0" "" "" "" "12008"
"00366687" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United States" "" "0" "" "" "" "12009"
"00366688" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United States" "" "0" "" "" "" "12011"
"00366689" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United States" "" "0" "" "" "" "12013"
"00366690" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United States" "" "0" "" "" "" "12015"
"00366691" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United States" "" "0" "" "" "" "12017"
"00366692" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United States" "" "0" "" "" "" "12019"
"00366693" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United States" "" "0" "" "" "" "12020"
"00366694" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United States" "" "0" "" "" "" "12022"
"00366695" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United States" "" "0" "" "" "" "12023"
"00366696" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United States" "" "0" "" "" "" "12025"
"00366697" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United States" "" "0" "" "" "" "12028"
"00366698" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United States" "" "0" "" "" "" "12030"
"00366699" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United States" "" "0" "" "" "" "12032"
"00366700" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United States" "" "0" "" "" "" "12036"
"00366701" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United States" "" "0" "" "" "" "12037"
"00366702" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United States" "" "0" "" "" "" "12038"
"00366703" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United States" "" "0" "" "" "" "12039"
"00366704" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United States" "" "0" "" "" "" "12040"
"00366705" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United States" "" "0" "" "" "" "12042"
"00366706" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United States" "" "0" "" "" "" "12044"
"00366707" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United States" "" "0" "" "" "" "12046"
"00366708" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United States" "" "0" "" "" "" "12048"
"00366709" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United States" "" "0" "" "" "" "12050"
"00366710" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "France" "" "0" "" "" "" "13003"
"00366711" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "France" "" "0" "" "" "" "13007"
"00366712" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "France" "" "0" "" "" "" "13008"
"00366713" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "France" "" "0" "" "" "" "13009"
"00366714" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "France" "" "0" "" "" "" "13015"
"00366715" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "France" "" "0" "" "" "" "13019"
"00366716" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "France" "" "0" "" "" "" "13025"
"00366717" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "France" "" "0" "" "" "" "13026"
"00366718" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "France" "" "0" "" "" "" "13029"
"00366719" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "France" "" "0" "" "" "" "13030"
"00366720" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "France" "" "0" "" "" "" "13032"
"00366721" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "France" "" "0" "" "" "" "13033"
"00366722" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "France" "" "0" "" "" "" "13034"
"00366723" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "France" "" "0" "" "" "" "13036"
"00366724" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "France" "" "0" "" "" "" "13037"
"00366725" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "France" "" "0" "" "" "" "13039"
"00366726" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "France" "" "0" "" "" "" "13040"
"00366727" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "France" "" "0" "" "" "" "13041"
"00366728" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "France" "" "0" "" "" "" "13043"
"00366729" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "France" "" "0" "" "" "" "13044"
"00366730" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "France" "" "0" "" "" "" "13046"
"00366731" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "France" "" "0" "" "" "" "13047"
"00366732" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "France" "" "0" "" "" "" "13049"
"00366733" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "France" "" "0" "" "" "" "13050"
"00366734" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "France" "" "0" "" "" "" "13052"
"00366735" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "France" "" "0" "" "" "" "13054"
"00366736" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "France" "" "0" "" "" "" "13056"
"00366737" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "France" "" "0" "" "" "" "13057"
"00366738" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "France" "" "0" "" "" "" "13060"
"00366739" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "France" "" "0" "" "" "" "13061"
"00366740" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "France" "" "0" "" "" "" "13063"
"00366741" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "France" "" "0" "" "" "" "13064"
"00366742" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "France" "" "0" "" "" "" "13068"
"00366743" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "France" "" "0" "" "" "" "13069"
"00366744" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "France" "" "0" "" "" "" "13070"
"00366745" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "France" "" "0" "" "" "" "13072"
"00366746" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "France" "" "0" "" "" "" "13074"
"00366747" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "France" "" "0" "" "" "" "13075"
"00366748" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "France" "" "0" "" "" "" "13076"
"00366749" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "France" "" "0" "" "" "" "13079"
"00366750" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "France" "" "0" "" "" "" "13080"
"00366751" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "France" "" "0" "" "" "" "13081"
"00366752" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "France" "" "0" "" "" "" "13083"
"00366753" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "France" "" "0" "" "" "" "13084"
"00366754" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "France" "" "0" "" "" "" "13087"
"00366755" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "France" "" "0" "" "" "" "13088"
"00366756" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "France" "" "0" "" "" "" "13090"
"00366757" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "France" "" "0" "" "" "" "13091"
"00366758" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "France" "" "0" "" "" "" "13092"
"00366759" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "France" "" "0" "" "" "" "13093"
"00366760" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "France" "" "0" "" "" "" "13094"
"00366761" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "France" "" "0" "" "" "" "13095"
"00366762" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "France" "" "0" "" "" "" "13096"
"00366763" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "France" "" "0" "" "" "" "13097"
"00366764" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "France" "" "0" "" "" "" "13098"
"00366765" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "France" "" "0" "" "" "" "13099"
"00366766" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "France" "" "0" "" "" "" "13100"
"00366767" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "France" "" "0" "" "" "" "13101"
"00366768" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "France" "" "0" "" "" "" "13102"
"00366769" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "France" "" "0" "" "" "" "13103"
"00366770" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "France" "" "0" "" "" "" "13104"
"00366771" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "14003"
"00366772" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "14006"
"00366773" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "14008"
"00366774" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "14010"
"00366775" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "14011"
"00366776" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "14012"
"00366777" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "14015"
"00366778" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "14017"
"00366779" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "14019"
"00366780" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "14020"
"00366781" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "14021"
"00366782" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "14022"
"00366783" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "14024"
"00366784" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "14025"
"00366785" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "14026"
"00366786" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "14027"
"00366787" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "14028"
"00366788" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "14029"
"00366789" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "14031"
"00366790" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "14034"
"00366791" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "14035"
"00366792" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "14036"
"00366793" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "14037"
"00366794" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "14038"
"00366795" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "14039"
"00366796" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "14041"
"00366797" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "14042"
"00366798" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "14044"
"00366799" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "14046"
"00366800" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "14047"
"00366801" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "14049"
"00366802" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "14050"
"00366803" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "14051"
"00366804" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "14053"
"00366805" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "14054"
"00366806" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "14055"
"00366807" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "14056"
"00366808" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "14058"
"00366809" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "14059"
"00366810" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "14060"
"00366811" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "14062"
"00366812" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "14063"
"00366813" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "14065"
"00366814" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "14067"
"00366815" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "14069"
"00366816" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "14070"
"00366817" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "14072"
"00366818" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "14073"
"00366819" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "14074"
"00366820" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "14075"
"00366821" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "14076"
"00366822" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "14077"
"00366823" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "14078"
"00366824" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "14079"
"00366825" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "14080"
"00366826" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "14082"
"00366827" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "14083"
"00366828" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "14085"
"00366829" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "14087"
"00366830" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "14092"
"00366831" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "14093"
"00366832" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "14094"
"00366833" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "14095"
"00366834" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "14096"
"00366835" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "14098"
"00366836" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "14099"
"00366837" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "14100"
"00366838" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "14101"
"00366839" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "14102"
"00366840" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "14103"
"00366841" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "14105"
"00366842" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "14106"
"00366843" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "14107"
"00366844" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "14108"
"00366845" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "14109"
"00366846" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "14110"
"00366847" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "14111"
"00366848" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "14112"
"00366849" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "14114"
"00366850" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "14115"
"00366851" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "14116"
"00366852" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "14117"
"00366853" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "14118"
"00366854" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "14119"
"00366855" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "Germany" "" "0" "" "" "" "15002"
"00366856" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "Germany" "" "0" "" "" "" "15004"
"00366857" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "Germany" "" "0" "" "" "" "15006"
"00366858" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "Germany" "" "0" "" "" "" "15008"
"00366859" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "Germany" "" "0" "" "" "" "15010"
"00366860" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "Germany" "" "0" "" "" "" "15012"
"00366861" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "Germany" "" "0" "" "" "" "15016"
"00366862" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "Germany" "" "0" "" "" "" "15017"
"00366863" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "Germany" "" "0" "" "" "" "15018"
"00366864" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "Germany" "" "0" "" "" "" "15020"
"00366865" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "Germany" "" "0" "" "" "" "15022"
"00366866" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "Germany" "" "0" "" "" "" "15026"
"00366867" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "Germany" "" "0" "" "" "" "15028"
"00366868" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "Germany" "" "0" "" "" "" "15030"
"00366869" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "Germany" "" "0" "" "" "" "15031"
"00366870" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "Germany" "" "0" "" "" "" "15032"
"00366871" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "Germany" "" "0" "" "" "" "15034"
"00366872" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "Germany" "" "0" "" "" "" "15036"
"00366873" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "Germany" "" "0" "" "" "" "15038"
"00366874" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "Germany" "" "0" "" "" "" "15040"
"00366875" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "Germany" "" "0" "" "" "" "15042"
"00366876" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "Germany" "" "0" "" "" "" "15046"
"00366877" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "Germany" "" "0" "" "" "" "15048"
"00366878" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "Germany" "" "0" "" "" "" "15052"
"00366879" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "Germany" "" "0" "" "" "" "15056"
"00366880" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "Germany" "" "0" "" "" "" "15060"
"00366881" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "Germany" "" "0" "" "" "" "15062"
"00366882" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "Germany" "" "0" "" "" "" "15063"
"00366883" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "Germany" "" "0" "" "" "" "15067"
"00366884" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "Germany" "" "0" "" "" "" "15070"
"00366885" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "Germany" "" "0" "" "" "" "15071"
"00366886" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "Germany" "" "0" "" "" "" "15074"
"00366887" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "Germany" "" "0" "" "" "" "15076"
"00366888" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "Germany" "" "0" "" "" "" "15078"
"00366889" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "Germany" "" "0" "" "" "" "15080"
"00366890" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "Germany" "" "0" "" "" "" "15084"
"00366891" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "Germany" "" "0" "" "" "" "15085"
"00366892" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "Germany" "" "0" "" "" "" "15088"
"00366893" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "Germany" "" "0" "" "" "" "15090"
"00366894" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "Germany" "" "0" "" "" "" "15092"
"00366895" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "Germany" "" "0" "" "" "" "15094"
"00366896" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "Germany" "" "0" "" "" "" "15095"
"00366897" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "Germany" "" "0" "" "" "" "15096"
"00366898" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "Germany" "" "0" "" "" "" "15097"
"00366899" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "Germany" "" "0" "" "" "" "15098"
"00366900" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "Germany" "" "0" "" "" "" "15102"
"00366901" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "Germany" "" "0" "" "" "" "15106"
"00366902" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "Germany" "" "0" "" "" "" "15108"
"00366903" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "Germany" "" "0" "" "" "" "15110"
"00366904" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United States" "" "0" "" "" "" "16002"
"00366905" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United States" "" "0" "" "" "" "16006"
"00366906" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United States" "" "0" "" "" "" "16007"
"00366907" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United States" "" "0" "" "" "" "16009"
"00366908" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United States" "" "0" "" "" "" "16010"
"00366909" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United States" "" "0" "" "" "" "16011"
"00366910" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United States" "" "0" "" "" "" "16012"
"00366911" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United States" "" "0" "" "" "" "16013"
"00366912" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United States" "" "0" "" "" "" "16014"
"00366913" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United States" "" "0" "" "" "" "16015"
"00366914" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United States" "" "0" "" "" "" "16016"
"00366915" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United States" "" "0" "" "" "" "16018"
"00366916" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United States" "" "0" "" "" "" "16020"
"00366917" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United States" "" "0" "" "" "" "16026"
"00366918" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United States" "" "0" "" "" "" "16030"
"00366919" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United States" "" "0" "" "" "" "16031"
"00366920" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United States" "" "0" "" "" "" "16032"
"00366921" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United States" "" "0" "" "" "" "16033"
"00366922" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United States" "" "0" "" "" "" "16036"
"00366923" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United States" "" "0" "" "" "" "16037"
"00366924" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United States" "" "0" "" "" "" "16039"
"00366925" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United States" "" "0" "" "" "" "16040"
"00366926" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United States" "" "0" "" "" "" "16041"
"00366927" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United States" "" "0" "" "" "" "16042"
"00366928" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United States" "" "0" "" "" "" "16043"
"00366929" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United States" "" "0" "" "" "" "17001"
"00366930" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United States" "" "0" "" "" "" "17002"
"00366931" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United States" "" "0" "" "" "" "17003"
"00366932" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United States" "" "0" "" "" "" "17004"
"00366933" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United States" "" "0" "" "" "" "17005"
"00366934" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United States" "" "0" "" "" "" "17006"
"00366935" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United States" "" "0" "" "" "" "17007"
"00366936" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United States" "" "0" "" "" "" "17008"
"00366937" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United States" "" "0" "" "" "" "17009"
"00366938" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United States" "" "0" "" "" "" "17011"
"00366939" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United States" "" "0" "" "" "" "17012"
"00366940" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United States" "" "0" "" "" "" "17019"
"00366941" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United States" "" "0" "" "" "" "17020"
"00366942" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United States" "" "0" "" "" "" "17022"
"00366943" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United States" "" "0" "" "" "" "17023"
"00366944" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United States" "" "0" "" "" "" "17024"
"00366945" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United States" "" "0" "" "" "" "17027"
"00366946" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United States" "" "0" "" "" "" "17028"
"00366947" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United States" "" "0" "" "" "" "17030"
"00366948" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United States" "" "0" "" "" "" "17032"
"00366949" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United States" "" "0" "" "" "" "17033"
"00366950" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United States" "" "0" "" "" "" "17034"
"00366951" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United States" "" "0" "" "" "" "17037"
"00366952" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United States" "" "0" "" "" "" "17038"
"00366953" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United States" "" "0" "" "" "" "17039"
"00366954" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United States" "" "0" "" "" "" "17040"
"00366955" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United States" "" "0" "" "" "" "17041"
"00366956" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United States" "" "0" "" "" "" "17042"
"00366957" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United States" "" "0" "" "" "" "17044"
"00366958" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United States" "" "0" "" "" "" "17045"
"00366959" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United States" "" "0" "" "" "" "17046"
"00366960" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United States" "" "0" "" "" "" "17047"
"00366961" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United States" "" "0" "" "" "" "17048"
"00366962" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United States" "" "0" "" "" "" "18007"
"00366963" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United States" "" "0" "" "" "" "18009"
"00366964" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United States" "" "0" "" "" "" "18011"
"00366965" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United States" "" "0" "" "" "" "18013"
"00366966" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United States" "" "0" "" "" "" "18014"
"00366967" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United States" "" "0" "" "" "" "18016"
"00366968" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United States" "" "0" "" "" "" "18018"
"00366969" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United States" "" "0" "" "" "" "18020"
"00366970" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United States" "" "0" "" "" "" "18021"
"00366971" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United States" "" "0" "" "" "" "18023"
"00366972" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United States" "" "0" "" "" "" "18024"
"00366973" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United States" "" "0" "" "" "" "18025"
"00366974" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United States" "" "0" "" "" "" "18027"
"00366975" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United States" "" "0" "" "" "" "18028"
"00366976" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United States" "" "0" "" "" "" "18029"
"00366977" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United States" "" "0" "" "" "" "18030"
"00366978" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United States" "" "0" "" "" "" "18032"
"00366979" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United States" "" "0" "" "" "" "18033"
"00366980" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United States" "" "0" "" "" "" "18034"
"00366981" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United States" "" "0" "" "" "" "18035"
"00366982" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United States" "" "0" "" "" "" "18036"
"00366983" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United States" "" "0" "" "" "" "19001"
"00366984" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United States" "" "0" "" "" "" "19002"
"00366985" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United States" "" "0" "" "" "" "19004"
"00366986" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United States" "" "0" "" "" "" "19005"
"00366987" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United States" "" "0" "" "" "" "19006"
"00366988" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United States" "" "0" "" "" "" "19007"
"00366989" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United States" "" "0" "" "" "" "19008"
"00366990" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United States" "" "0" "" "" "" "19009"
"00366991" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United States" "" "0" "" "" "" "19010"
"00366992" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United States" "" "0" "" "" "" "19011"
"00366993" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United States" "" "0" "" "" "" "19012"
"00366994" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United States" "" "0" "" "" "" "19013"
"00366995" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United States" "" "0" "" "" "" "19014"
"00366996" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United States" "" "0" "" "" "" "19015"
"00366997" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United States" "" "0" "" "" "" "19016"
"00366998" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United States" "" "0" "" "" "" "19019"
"00366999" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United States" "" "0" "" "" "" "19020"
"00367000" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United States" "" "0" "" "" "" "19021"
"00367001" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United States" "" "0" "" "" "" "19022"
"00367002" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United States" "" "0" "" "" "" "19023"
"00367003" "" "" "" "1" "" "01695" "{PMID:Fujinami 2019:29925512}" "191 F, 154 M in this study" "" "?" "United States" "" "0" "" "" "" "19024"
"00367004" "" "" "" "1" "" "01695" "{PMID:Runhart 2018:29971439}" "sibling of this patient has been published before" "F" "?" "Netherlands" "" "0" "" "" "" "B-II:3"
"00367005" "" "" "" "1" "" "01695" "{PMID:Runhart 2018:29971439}" "sibling of patient C-II:2" "M" "?" "Netherlands" "" "0" "" "" "" "C-II:1"
"00367006" "" "" "" "1" "" "01695" "{PMID:Runhart 2018:29971439}" "sibling of patient C-II:1" "F" "?" "Netherlands" "" "0" "" "" "" "C-II:2"
"00367007" "" "" "" "1" "" "01695" "{PMID:Runhart 2018:29971439}" "sibling of patient D-II:3" "M" "?" "Netherlands" "" "0" "" "" "" "D-II:1"
"00367008" "" "" "" "1" "" "01695" "{PMID:Runhart 2018:29971439}" "sibling of patient D-II:1" "M" "?" "Netherlands" "" "0" "" "" "" "D-II:3"
"00367009" "" "" "" "1" "" "01695" "{PMID:Runhart 2018:29971439}" "" "M" "?" "Netherlands" "" "0" "" "" "" "F-II:2"
"00367010" "" "" "" "1" "" "01695" "{PMID:Runhart 2018:29971439}" "sibling of this patient has been published before, furthermore, G-II:4 is also a sibling of this patient" "F" "?" "Netherlands" "" "0" "" "" "" "G-II:1"
"00367011" "" "" "" "1" "" "01695" "{PMID:Runhart 2018:29971439}" "sibling of this patient has been published before, furthermore, G-II:1 is also a sibling of this patient" "F" "?" "Netherlands" "" "0" "" "" "" "G-II:4"
"00367012" "" "" "" "1" "" "01695" "{PMID:Runhart 2018:29971439}" "" "M" "?" "Netherlands" "" "0" "" "" "" "J-II:2"
"00367013" "" "" "" "1" "" "01695" "{PMID:Runhart 2018:29971439}" "" "F" "?" "Netherlands" "" "0" "" "" "" "K-II:1"
"00367014" "" "" "" "1" "" "01695" "{PMID:Runhart 2018:29971439}" "" "F" "?" "Netherlands" "" "0" "" "" "" "L-II:1"
"00367015" "" "" "" "1" "" "01695" "{PMID:Runhart 2018:29971439}" "" "F" "?" "Netherlands" "" "0" "" "" "" "M-II:1"
"00367016" "" "" "" "1" "" "01695" "{PMID:Runhart 2018:29971439}" "" "F" "?" "Netherlands" "" "0" "" "" "" "O-II:1"
"00367017" "" "" "" "1" "" "01695" "{PMID:Runhart 2018:29971439}" "" "F" "?" "Netherlands" "" "0" "" "" "" "Q-II:1"
"00367018" "" "" "" "1" "" "01695" "{PMID:Runhart 2018:29971439}" "" "M" "?" "Netherlands" "" "0" "" "" "" "R-II:1"
"00367019" "" "" "" "1" "" "01695" "{PMID:Runhart 2018:29971439}" "" "F" "?" "Netherlands" "" "0" "" "" "" "S-II:1"
"00367020" "" "" "" "1" "" "01695" "{PMID:Runhart 2018:29971439}" "" "F" "?" "Netherlands" "" "0" "" "" "" "U-II:1"
"00367021" "" "" "" "1" "" "01695" "{PMID:Runhart 2018:29971439}" "" "F" "?" "Netherlands" "" "0" "" "" "" "V-II:1"
"00367022" "" "" "" "1" "" "01695" "{PMID:Runhart 2018:29971439}" "" "F" "?" "Netherlands" "" "0" "" "" "" "W-II:1"
"00367023" "" "" "" "1" "" "01695" "{PMID:Runhart 2018:29971439}" "" "F" "?" "Netherlands" "" "0" "" "" "" "Y-II:1"
"00367024" "" "" "" "1" "" "01695" "{PMID:Runhart 2018:29971439}" "" "F" "?" "Netherlands" "" "0" "" "" "" "Z-II:1"
"00367025" "" "" "" "1" "" "01695" "{PMID:Runhart 2018:29971439}" "" "M" "?" "Netherlands" "" "0" "" "" "" "AA-II:1"
"00367026" "" "" "" "1" "" "01695" "{PMID:Sung 2019:29975949}" "" "" "?" "Korea, South (Republic)" "" "0" "" "" "Korea" "P001"
"00367027" "" "" "" "1" "" "01695" "{PMID:Sung 2019:29975949}" "" "" "?" "Korea, South (Republic)" "" "0" "" "" "Korea" "P002"
"00367028" "" "" "" "1" "" "01695" "{PMID:Sung 2019:29975949}" "" "" "?" "Korea, South (Republic)" "" "0" "" "" "Korea" "P003"
"00367029" "" "" "" "1" "" "01695" "{PMID:Sung 2019:29975949}" "" "" "?" "Korea, South (Republic)" "" "0" "" "" "Korea" "P004"
"00367030" "" "" "" "1" "" "01695" "{PMID:Sung 2019:29975949}" "" "" "?" "Korea, South (Republic)" "" "0" "" "" "Korea" "P011"
"00367031" "" "" "" "1" "" "01695" "{PMID:Sung 2019:29975949}" "" "" "?" "Korea, South (Republic)" "" "0" "" "" "Korea" "P012"
"00367032" "" "" "" "1" "" "01695" "{PMID:Sung 2019:29975949}" "" "" "?" "Korea, South (Republic)" "" "0" "" "" "Korea" "P013"
"00367033" "" "" "" "1" "" "01695" "{PMID:Sung 2019:29975949}" "" "" "?" "Korea, South (Republic)" "" "0" "" "" "Korea" "P015"
"00367034" "" "" "" "1" "" "01695" "{PMID:Sung 2019:29975949}" "" "" "?" "Korea, South (Republic)" "" "0" "" "" "Korea" "P016"
"00367035" "" "" "" "1" "" "01695" "{PMID:Sung 2019:29975949}" "" "" "?" "Korea, South (Republic)" "" "0" "" "" "Korea" "P017"
"00367036" "" "" "" "1" "" "01695" "{PMID:Sung 2019:29975949}" "" "" "?" "Korea, South (Republic)" "" "0" "" "" "Korea" "P018"
"00367037" "" "" "" "1" "" "01695" "{PMID:Sung 2019:29975949}" "" "" "?" "Korea, South (Republic)" "" "0" "" "" "Korea" "P020"
"00367038" "" "" "" "1" "" "01695" "{PMID:Sung 2019:29975949}" "" "" "?" "Korea, South (Republic)" "" "0" "" "" "Korea" "P021"
"00367039" "" "" "" "1" "" "01695" "{PMID:Sung 2019:29975949}" "" "" "?" "Korea, South (Republic)" "" "0" "" "" "Korea" "P022"
"00367040" "" "" "" "1" "" "01695" "{PMID:Sung 2019:29975949}" "" "" "?" "Korea, South (Republic)" "" "0" "" "" "Korea" "P023"
"00367041" "" "" "" "1" "" "01695" "{PMID:Sung 2019:29975949}" "" "" "?" "Korea, South (Republic)" "" "0" "" "" "Korea" "P024"
"00367042" "" "" "" "1" "" "01695" "{PMID:Sung 2019:29975949}" "" "" "?" "Korea, South (Republic)" "" "0" "" "" "Korea" "P026"
"00367043" "" "" "" "1" "" "01695" "{PMID:Lee 2018:30055151}" "" "M" "?" "United States" "" "0" "" "" "white" "1"
"00367044" "" "" "" "1" "" "01695" "{PMID:Lee 2018:30055151}" "" "M" "?" "United States" "" "0" "" "" "white" "2"
"00367045" "" "" "" "1" "" "01695" "{PMID:Lee 2018:30055151}" "" "M" "?" "United States" "" "0" "" "" "white" "3"
"00367046" "" "" "" "1" "" "01695" "{PMID:Lee 2018:30055151}" "" "F" "?" "United States" "" "0" "" "" "white" "4"
"00367047" "" "" "" "1" "" "01695" "{PMID:Lee 2018:30055151}" "" "F" "?" "United States" "" "0" "" "" "white" "6"
"00367048" "" "" "" "1" "" "01695" "{PMID:Lee 2018:30055151}" "" "M" "?" "United States" "" "0" "" "" "white" "7"
"00367049" "" "" "" "1" "" "01695" "{PMID:Lee 2018:30055151}" "" "M" "?" "United States" "" "0" "" "" "white" "8"
"00367050" "" "" "" "1" "" "01695" "{PMID:Lee 2018:30055151}" "" "M" "?" "United States" "" "0" "" "" "white" "9"
"00367051" "" "" "" "1" "" "01695" "{PMID:Lee 2018:30055151}" "" "F" "?" "United States" "" "0" "" "" "white" "10"
"00367052" "" "" "" "1" "" "01695" "{PMID:Lee 2018:30055151}" "sibling of patient 12" "F" "?" "United States" "" "0" "" "" "white" "11"
"00367053" "" "" "" "1" "" "01695" "{PMID:Lee 2018:30055151}" "sibling of patient 11" "M" "?" "United States" "" "0" "" "" "white" "12"
"00367054" "" "" "" "1" "" "01695" "{PMID:Nassisi 2018:30060493}" "" "" "?" "France" "" "0" "" "" "" "CIC00130"
"00367055" "" "" "" "1" "" "01695" "{PMID:Nassisi 2018:30060493}" "" "" "?" "France" "" "0" "" "" "" "CIC00467"
"00367056" "" "" "" "1" "" "01695" "{PMID:Nassisi 2018:30060493}" "" "" "?" "France" "" "0" "" "" "" "CIC01080"
"00367057" "" "" "" "1" "" "01695" "{PMID:Nassisi 2018:30060493}" "" "" "?" "France" "" "0" "" "" "" "CIC01199"
"00367058" "" "" "" "1" "" "01695" "{PMID:Nassisi 2018:30060493}" "" "" "?" "France" "" "0" "" "" "" "CIC01301"
"00367059" "" "" "" "1" "" "01695" "{PMID:Nassisi 2018:30060493}" "" "" "?" "France" "" "0" "" "" "" "CIC01750"
"00367060" "" "" "" "1" "" "01695" "{PMID:Nassisi 2018:30060493}" "" "" "?" "France" "" "0" "" "" "" "CIC02024"
"00367061" "" "" "" "1" "" "01695" "{PMID:Nassisi 2018:30060493}" "" "" "?" "France" "" "0" "" "" "" "CIC02505"
"00367062" "" "" "" "1" "" "01695" "{PMID:Nassisi 2018:30060493}" "" "" "?" "France" "" "0" "" "" "" "CIC02690"
"00367063" "" "" "" "1" "" "01695" "{PMID:Nassisi 2018:30060493}" "" "" "?" "France" "" "0" "" "" "" "CIC02804"
"00367064" "" "" "" "1" "" "01695" "{PMID:Nassisi 2018:30060493}" "" "" "?" "France" "" "0" "" "" "" "CIC03252"
"00367065" "" "" "" "1" "" "01695" "{PMID:Nassisi 2018:30060493}" "" "" "?" "France" "" "0" "" "" "" "CIC03678"
"00367066" "" "" "" "1" "" "01695" "{PMID:Nassisi 2018:30060493}" "" "" "?" "France" "" "0" "" "" "" "CIC03710"
"00367067" "" "" "" "1" "" "01695" "{PMID:Nassisi 2018:30060493}" "" "" "?" "France" "" "0" "" "" "" "CIC03734"
"00367068" "" "" "" "1" "" "01695" "{PMID:Nassisi 2018:30060493}" "" "" "?" "France" "" "0" "" "" "" "CIC03735"
"00367069" "" "" "" "1" "" "01695" "{PMID:Nassisi 2018:30060493}" "" "" "?" "France" "" "0" "" "" "" "CIC04176"
"00367070" "" "" "" "1" "" "01695" "{PMID:Nassisi 2018:30060493}" "" "" "?" "France" "" "0" "" "" "" "CIC04197"
"00367071" "" "" "" "1" "" "01695" "{PMID:Nassisi 2018:30060493}" "" "" "?" "France" "" "0" "" "" "" "CIC04235"
"00367072" "" "" "" "1" "" "01695" "{PMID:Nassisi 2018:30060493}" "" "" "?" "France" "" "0" "" "" "" "CIC04259"
"00367073" "" "" "" "1" "" "01695" "{PMID:Nassisi 2018:30060493}" "" "" "?" "France" "" "0" "" "" "" "CIC04571"
"00367074" "" "" "" "1" "" "01695" "{PMID:Nassisi 2018:30060493}" "" "" "?" "France" "" "0" "" "" "" "CIC05056"
"00367075" "" "" "" "1" "" "01695" "{PMID:Nassisi 2018:30060493}" "" "" "?" "France" "" "0" "" "" "" "CIC05266"
"00367076" "" "" "" "1" "" "01695" "{PMID:Nassisi 2018:30060493}" "" "" "?" "France" "" "0" "" "" "" "CIC05899"
"00367077" "" "" "" "1" "" "01695" "{PMID:Nassisi 2018:30060493}" "" "" "?" "France" "" "0" "" "" "" "CIC06088"
"00367078" "" "" "" "1" "" "01695" "{PMID:Nassisi 2018:30060493}" "" "" "?" "France" "" "0" "" "" "" "CIC06126"
"00367079" "" "" "" "1" "" "01695" "{PMID:Nassisi 2018:30060493}" "" "" "?" "France" "" "0" "" "" "" "CIC06346"
"00367080" "" "" "" "1" "" "01695" "{PMID:Nassisi 2018:30060493}" "" "" "?" "France" "" "0" "" "" "" "CIC06396"
"00367081" "" "" "" "1" "" "01695" "{PMID:Nassisi 2018:30060493}" "" "" "?" "France" "" "0" "" "" "" "CIC06727"
"00367082" "" "" "" "1" "" "01695" "{PMID:Nassisi 2018:30060493}" "" "" "?" "France" "" "0" "" "" "" "CIC06749"
"00367083" "" "" "" "1" "" "01695" "{PMID:Nassisi 2018:30060493}" "" "" "?" "France" "" "0" "" "" "" "CIC06908"
"00367084" "" "" "" "1" "" "01695" "{PMID:Nassisi 2018:30060493}" "" "" "?" "France" "" "0" "" "" "" "CIC07036"
"00367085" "" "" "" "1" "" "01695" "{PMID:Nassisi 2018:30060493}" "" "" "?" "France" "" "0" "" "" "" "CIC07120"
"00367086" "" "" "" "1" "" "01695" "{PMID:Nassisi 2018:30060493}" "" "" "?" "France" "" "0" "" "" "" "CIC07308"
"00367087" "" "" "" "1" "" "01695" "{PMID:Nassisi 2018:30060493}" "" "" "?" "France" "" "0" "" "" "" "CIC07436"
"00367088" "" "" "" "1" "" "01695" "{PMID:Nassisi 2018:30060493}" "" "" "?" "France" "" "0" "" "" "" "CIC07725"
"00367089" "" "" "" "1" "" "01695" "{PMID:Nassisi 2018:30060493}" "" "" "?" "France" "" "0" "" "" "" "CIC07744"
"00367090" "" "" "" "1" "" "01695" "{PMID:Nassisi 2018:30060493}" "" "" "?" "France" "" "0" "" "" "" "CIC07748"
"00367091" "" "" "" "1" "" "01695" "{PMID:Nassisi 2018:30060493}" "" "" "?" "France" "" "0" "" "" "" "CIC07749"
"00367092" "" "" "" "1" "" "01695" "{PMID:Nassisi 2018:30060493}" "" "" "?" "France" "" "0" "" "" "" "CIC07831"
"00367093" "" "" "" "1" "" "01695" "{PMID:Nassisi 2018:30060493}" "" "" "?" "France" "" "0" "" "" "" "CIC07887"
"00367094" "" "" "" "1" "" "01695" "{PMID:Nassisi 2018:30060493}" "" "" "?" "France" "" "0" "" "" "" "CIC07895"
"00367095" "" "" "" "1" "" "01695" "{PMID:Nassisi 2018:30060493}" "" "" "?" "France" "" "0" "" "" "" "CIC07960"
"00367096" "" "" "" "1" "" "01695" "{PMID:Nassisi 2018:30060493}" "" "" "?" "France" "" "0" "" "" "" "CIC07985"
"00367097" "" "" "" "1" "" "01695" "{PMID:Nassisi 2018:30060493}" "" "" "?" "France" "" "0" "" "" "" "CIC07994"
"00367098" "" "" "" "1" "" "01695" "{PMID:Nassisi 2018:30060493}" "" "" "?" "France" "" "0" "" "" "" "CIC08054"
"00367099" "" "" "" "1" "" "01695" "{PMID:Nassisi 2018:30060493}" "" "" "?" "France" "" "0" "" "" "" "CIC08194"
"00367100" "" "" "" "1" "" "01695" "{PMID:Nassisi 2018:30060493}" "" "" "?" "France" "" "0" "" "" "" "CIC08262"
"00367101" "" "" "" "1" "" "01695" "{PMID:Nassisi 2018:30060493}" "" "" "?" "France" "" "0" "" "" "" "CIC08283"
"00367102" "" "" "" "1" "" "01695" "{PMID:Nassisi 2018:30060493}" "" "" "?" "France" "" "0" "" "" "" "CIC08359"
"00367103" "" "" "" "1" "" "01695" "{PMID:Nassisi 2018:30060493}" "" "" "?" "France" "" "0" "" "" "" "CIC08372"
"00367104" "" "" "" "1" "" "01695" "{PMID:Nassisi 2018:30060493}" "" "" "?" "France" "" "0" "" "" "" "CIC08381"
"00367105" "" "" "" "1" "" "01695" "{PMID:Nassisi 2018:30060493}" "" "" "?" "France" "" "0" "" "" "" "CIC08383"
"00367106" "" "" "" "1" "" "01695" "{PMID:Nassisi 2018:30060493}" "" "" "?" "France" "" "0" "" "" "" "CIC08439"
"00367107" "" "" "" "1" "" "01695" "{PMID:Nassisi 2018:30060493}" "" "" "?" "France" "" "0" "" "" "" "CIC08538"
"00367108" "" "" "" "1" "" "01695" "{PMID:Nassisi 2018:30060493}" "" "" "?" "France" "" "0" "" "" "" "CIC08581"
"00367109" "" "" "" "1" "" "01695" "{PMID:Nassisi 2018:30060493}" "" "" "?" "France" "" "0" "" "" "" "CIC08723"
"00367110" "" "" "" "1" "" "01695" "{PMID:Nassisi 2018:30060493}" "" "" "?" "France" "" "0" "" "" "" "CIC08724"
"00367111" "" "" "" "1" "" "01695" "{PMID:Nassisi 2018:30060493}" "" "" "?" "France" "" "0" "" "" "" "CIC08932"
"00367112" "" "" "" "1" "" "01695" "{PMID:Nassisi 2018:30060493}" "" "" "?" "France" "" "0" "" "" "" "CIC09114"
"00367113" "" "" "" "1" "" "01695" "{PMID:Nassisi 2018:30060493}" "" "" "?" "France" "" "0" "" "" "" "CIC09219"
"00367114" "" "" "" "1" "" "01695" "{PMID:Nassisi 2018:30060493}" "" "" "?" "France" "" "0" "" "" "" "CIC09374"
"00367115" "" "" "" "1" "" "01695" "{PMID:Nassisi 2018:30060493}" "" "" "?" "France" "" "0" "" "" "" "CIC09382"
"00367116" "" "" "" "1" "" "01695" "{PMID:Nassisi 2018:30060493}" "" "" "?" "France" "" "0" "" "" "" "CIC09405"
"00367117" "" "" "" "1" "" "01695" "{PMID:Nassisi 2018:30060493}" "" "" "?" "France" "" "0" "" "" "" "CIC09601"
"00367118" "" "" "" "1" "" "01695" "{PMID:Nassisi 2018:30060493}" "" "" "?" "France" "" "0" "" "" "" "CIC09624"
"00367119" "" "" "" "1" "" "01695" "{PMID:Nassisi 2018:30060493}" "" "" "?" "France" "" "0" "" "" "" "CIC09625"
"00367120" "" "" "" "1" "" "01695" "{PMID:Nassisi 2018:30060493}" "" "" "?" "France" "" "0" "" "" "" "CIC09848"
"00367121" "" "" "" "1" "" "01695" "{PMID:Nassisi 2018:30060493}" "" "" "?" "France" "" "0" "" "" "" "CIC09857"
"00367122" "" "" "" "1" "" "01695" "{PMID:Nassisi 2018:30060493}" "" "" "?" "France" "" "0" "" "" "" "CIC09999"
"00367123" "" "" "" "1" "" "01695" "{PMID:Salles 2018:30093795}" "" "F" "?" "Brazil" "" "0" "" "" "" "5"
"00367124" "" "" "" "1" "" "01695" "{PMID:Salles 2018:30093795}" "" "M" "?" "Brazil" "" "0" "" "" "" "7"
"00367125" "" "" "" "1" "" "01695" "{PMID:Salles 2018:30093795}" "" "M" "?" "Brazil" "" "0" "" "" "" "9"
"00367126" "" "" "" "1" "" "01695" "{PMID:Salles 2018:30093795}" "" "M" "?" "Brazil" "" "0" "" "" "" "11"
"00367127" "" "" "" "1" "" "01695" "{PMID:Salles 2018:30093795}" "" "F" "?" "Brazil" "" "0" "" "" "" "15"
"00367128" "" "" "" "1" "" "01695" "{PMID:Salles 2018:30093795}" "" "M" "?" "Brazil" "" "0" "" "" "" "16"
"00367129" "" "" "" "1" "" "01695" "{PMID:Salles 2018:30093795}" "sibling of patient 19" "M" "?" "Brazil" "" "0" "" "" "" "18"
"00367130" "" "" "" "1" "" "01695" "{PMID:Salles 2018:30093795}" "sibling of patient18" "M" "?" "Brazil" "" "0" "" "" "" "19"
"00367131" "" "" "" "1" "" "01695" "{PMID:Salles 2018:30093795}" "" "M" "?" "Brazil" "" "0" "" "" "" "21"
"00367132" "" "" "" "1" "" "01695" "{PMID:Salles 2018:30093795}" "" "M" "?" "Brazil" "" "0" "" "" "" "24"
"00367133" "" "" "" "1" "" "01695" "{PMID:Salles 2018:30093795}" "" "M" "?" "Brazil" "" "0" "" "" "" "25"
"00367134" "" "" "" "1" "" "01695" "{PMID:Salles 2018:30093795}" "" "F" "?" "Brazil" "" "0" "" "" "" "26"
"00367135" "" "" "" "1" "" "01695" "{PMID:Salles 2018:30093795}" "" "M" "?" "Brazil" "" "0" "" "" "" "28"
"00367136" "" "" "" "1" "" "01695" "{PMID:Salles 2018:30093795}" "" "F" "?" "Brazil" "" "0" "" "" "" "29"
"00367137" "" "" "" "1" "" "01695" "{PMID:Salles 2018:30093795}" "" "M" "?" "Brazil" "" "0" "" "" "" "32"
"00367138" "" "" "" "1" "" "01695" "{PMID:Salles 2018:30093795}" "" "F" "?" "Brazil" "" "0" "" "" "" "37"
"00367139" "" "" "" "1" "" "01695" "{PMID:Salles 2018:30093795}" "" "F" "?" "Brazil" "" "0" "" "" "" "39"
"00367140" "" "" "" "1" "" "01695" "{PMID:Salles 2018:30093795}" "" "F" "?" "Brazil" "" "0" "" "" "" "46"
"00367141" "" "" "" "1" "" "01695" "{PMID:Salles 2018:30093795}" "" "F" "?" "Brazil" "" "0" "" "" "" "1"
"00367142" "" "" "" "1" "" "01695" "{PMID:Salles 2018:30093795}" "" "F" "?" "Brazil" "" "0" "" "" "" "10"
"00367143" "" "" "" "1" "" "01695" "{PMID:Salles 2018:30093795}" "" "M" "?" "Brazil" "" "0" "" "" "" "12"
"00367144" "" "" "" "1" "" "01695" "{PMID:Salles 2018:30093795}" "" "M" "?" "Brazil" "" "0" "" "" "" "13"
"00367145" "" "" "" "1" "" "01695" "{PMID:Salles 2018:30093795}" "sibling of patient 20" "F" "?" "Brazil" "" "0" "" "" "" "17"
"00367146" "" "" "" "1" "" "01695" "{PMID:Salles 2018:30093795}" "sibling of patient 17" "M" "?" "Brazil" "" "0" "" "" "" "20"
"00367147" "" "" "" "1" "" "01695" "{PMID:Salles 2018:30093795}" "" "M" "?" "Brazil" "" "0" "" "" "" "22"
"00367148" "" "" "" "1" "" "01695" "{PMID:Salles 2018:30093795}" "" "F" "?" "Brazil" "" "0" "" "" "" "23"
"00367149" "" "" "" "1" "" "01695" "{PMID:Salles 2018:30093795}" "" "F" "?" "Brazil" "" "0" "" "" "" "27"
"00367150" "" "" "" "1" "" "01695" "{PMID:Salles 2018:30093795}" "" "F" "?" "Brazil" "" "0" "" "" "" "3"
"00367151" "" "" "" "1" "" "01695" "{PMID:Salles 2018:30093795}" "" "F" "?" "Brazil" "" "0" "" "" "" "30"
"00367152" "" "" "" "1" "" "01695" "{PMID:Salles 2018:30093795}" "" "M" "?" "Brazil" "" "0" "" "" "" "31"
"00367153" "" "" "" "1" "" "01695" "{PMID:Salles 2018:30093795}" "" "M" "yes" "Brazil" "" "0" "" "" "" "33"
"00367154" "" "" "" "1" "" "01695" "{PMID:Salles 2018:30093795}" "" "M" "?" "Brazil" "" "0" "" "" "" "34"
"00367155" "" "" "" "1" "" "01695" "{PMID:Salles 2018:30093795}" "" "M" "?" "Brazil" "" "0" "" "" "" "35"
"00367156" "" "" "" "1" "" "01695" "{PMID:Salles 2018:30093795}" "child of patient 45" "F" "?" "Brazil" "" "0" "" "" "" "36"
"00367157" "" "" "" "1" "" "01695" "{PMID:Salles 2018:30093795}" "" "M" "?" "Brazil" "" "0" "" "" "" "38"
"00367158" "" "" "" "1" "" "01695" "{PMID:Salles 2018:30093795}" "sibling of patient 6" "F" "yes" "Brazil" "" "0" "" "" "" "4"
"00367159" "" "" "" "1" "" "01695" "{PMID:Salles 2018:30093795}" "sibling of 49" "F" "?" "Brazil" "" "0" "" "" "" "41"
"00367160" "" "" "" "1" "" "01695" "{PMID:Salles 2018:30093795}" "" "M" "?" "Brazil" "" "0" "" "" "" "42"
"00367161" "" "" "" "1" "" "01695" "{PMID:Salles 2018:30093795}" "parent of patient 43" "F" "?" "Brazil" "" "0" "" "" "" "44"
"00367162" "" "" "" "1" "" "01695" "{PMID:Salles 2018:30093795}" "parent of patient 36" "F" "?" "Brazil" "" "0" "" "" "" "45"
"00367163" "" "" "" "1" "" "01695" "{PMID:Salles 2018:30093795}" "" "F" "?" "Brazil" "" "0" "" "" "" "47"
"00367164" "" "" "" "1" "" "01695" "{PMID:Salles 2018:30093795}" "" "F" "?" "Brazil" "" "0" "" "" "" "48"
"00367165" "" "" "" "1" "" "01695" "{PMID:Salles 2018:30093795}" "sibling of 41" "M" "?" "Brazil" "" "0" "" "" "" "49"
"00367166" "" "" "" "1" "" "01695" "{PMID:Salles 2018:30093795}" "" "M" "?" "Brazil" "" "0" "" "" "" "50"
"00367167" "" "" "" "1" "" "01695" "{PMID:Salles 2018:30093795}" "" "M" "?" "Brazil" "" "0" "" "" "" "51"
"00367168" "" "" "" "1" "" "01695" "{PMID:Salles 2018:30093795}" "sibling of patient 4" "M" "yes" "Brazil" "" "0" "" "" "" "6"
"00367169" "" "" "" "1" "" "01695" "{PMID:Zuazo 2018:30156925}" "The patient also has Stickler’s syndrome with a corresponding mutation in COL11A1 (Gly1474Val)" "F" "?" "United States" "" "0" "" "" "" "Patient 1"
"00367170" "" "" "" "1" "" "01695" "{PMID:Zuazo 2018:30156925}" "The patient also has Stickler’s syndrome with a corresponding mutation in COL11A2 (Gly1480Arg)" "F" "?" "United States" "" "0" "" "" "" "Patient 2"
"00367171" "" "" "" "1" "" "01695" "{PMID:González-del Pozo 2018:30190494}" "" "M" "?" "Spain" "" "0" "" "" "" "Fam A: II:1"
"00367172" "" "" "" "1" "" "01695" "{PMID:Collison 2019:30204727}" "" "M" "?" "United States" "" "0" "" "" "white" "1 F1-II:1*"
"00367173" "" "" "" "1" "" "01695" "{PMID:Collison 2019:30204727}" "" "F" "?" "United States" "" "0" "" "" "white" "2 F1-II:2"
"00367174" "" "" "" "1" "" "01695" "{PMID:Collison 2019:30204727}" "" "F" "?" "United States" "" "0" "" "" "white" "3 F2-I:1"
"00367175" "" "" "" "1" "" "01695" "{PMID:Collison 2019:30204727}" "" "M" "?" "United States" "" "0" "" "" "white" "4 F2-I:2*"
"00367176" "" "" "" "1" "" "01695" "{PMID:Collison 2019:30204727}" "" "F" "?" "United States" "" "0" "" "" "white" "6 F2-II:3"
"00367177" "" "" "" "1" "" "01695" "{PMID:Collison 2019:30204727}" "" "F" "?" "United States" "" "0" "" "" "white" "8 F4-I:2*"
"00367178" "" "" "" "1" "" "01695" "{PMID:Collison 2019:30204727}" "" "F" "?" "United States" "" "0" "" "" "white" "9"
"00367179" "" "" "" "1" "" "01695" "{PMID:Collison 2019:30204727}" "" "M" "?" "United States" "" "0" "" "" "white" "10"
"00367180" "" "" "" "1" "" "01695" "{PMID:Collison 2019:30204727}" "" "M" "?" "United States" "" "0" "" "" "white" "11"
"00367181" "" "" "" "1" "" "01695" "{PMID:Collison 2019:30204727}" "" "M" "?" "United States" "" "0" "" "" "white" "12"
"00367182" "" "" "" "1" "" "01695" "{PMID:Collison 2019:30204727}" "" "M" "?" "United States" "" "0" "" "" "white" "14"
"00367183" "" "" "" "1" "" "01695" "{PMID:Collison 2019:30204727}" "" "F" "?" "United States" "" "0" "" "" "white" "15"
"00367184" "" "" "" "1" "" "01695" "{PMID:Collison 2019:30204727}" "" "F" "?" "United States" "" "0" "" "" "white" "16"
"00367185" "" "" "" "1" "" "01695" "{PMID:Collison 2019:30204727}" "" "F" "?" "United States" "" "0" "" "" "white" "17"
"00367186" "" "" "" "1" "" "01695" "{PMID:Collison 2019:30204727}" "" "M" "?" "United States" "" "0" "" "" "white" "18"
"00367187" "" "" "" "1" "" "01695" "{PMID:Collison 2019:30204727}" "" "F" "?" "United States" "" "0" "" "" "white" "19 F5-I:1"
"00367188" "" "" "" "1" "" "01695" "{PMID:Collison 2019:30204727}" "" "F" "?" "United States" "" "0" "" "" "white" "20 F5-I:2*"
"00367189" "" "" "" "1" "" "01695" "{PMID:Collison 2019:30204727}" "" "F" "?" "United States" "" "0" "" "" "white" "21"
"00367190" "" "" "" "1" "" "01695" "{PMID:Collison 2019:30204727}" "" "M" "?" "United States" "" "0" "" "" "white" "22"
"00367191" "" "" "" "1" "" "01695" "{PMID:Collison 2019:30204727}{PMID:Zernant 2017:28446513}" "" "F" "?" "United States" "" "0" "" "" "white" "24; 3542"
"00367192" "" "" "" "1" "" "01695" "{PMID:Collison 2019:30204727}" "" "M" "?" "United States" "" "0" "" "" "white" "25"
"00367193" "" "" "" "1" "" "01695" "{PMID:Saatci 2018:30186147}" "" "F" "?" "Turkey" "" "0" "" "" "" "Unknown 611"
"00367194" "" "" "" "1" "" "01695" "{PMID:Ravesh 2018:30416334}" "FamilyE" "M" "yes" "Iran" "" "0" "" "" "" "E II:II"
"00367195" "" "" "" "1" "" "01695" "{PMID:Xiang 2019:30563929}" "" "M" "no" "China" "" "0" "" "" "Han" "II:1"
"00367196" "" "" "" "1" "" "01695" "{PMID:Claassen 2019:30634128}" "" "F" "?" "" "" "0" "" "" "" "Unknown 638"
"00367197" "" "" "" "1" "" "01695" "{PMID:Sangermano 2019:30643219} {PMID:Runhart 2019:31618761}" "" "F" "?" "" "" "0" "" "" "" "A-I:2"
"00367198" "" "" "" "1" "" "01695" "{PMID:Sangermano 2019:30643219}" "" "F" "?" "" "" "0" "" "" "" "B-I:2"
"00367199" "" "" "" "1" "" "01695" "{PMID:Sangermano 2019:30643219} {PMID:Runhart 2019:31618761}" "" "F" "?" "" "" "0" "" "" "" "C-I:2"
"00367200" "" "" "" "1" "" "01695" "{PMID:Sangermano 2019:30643219} {PMID:Runhart 2019:31618761}" "" "M" "?" "" "" "0" "" "" "" "D-III:1"
"00367201" "" "" "" "1" "" "01695" "{PMID:Sangermano 2019:30643219}" "" "F" "?" "" "" "0" "" "" "" "E-II:1"
"00367202" "" "" "" "1" "" "01695" "{PMID:Sangermano 2019:30643219} {PMID:Runhart 2019:31618761}" "" "F" "?" "" "" "0" "" "" "" "F-II:2"
"00367203" "" "" "" "1" "" "01695" "{PMID:Sangermano 2019:30643219} {PMID:Runhart 2019:31618761}" "" "F" "?" "" "" "0" "" "" "" "G-I:2"
"00367204" "" "" "" "1" "" "01695" "{PMID:Sangermano 2019:30643219} {PMID:Runhart 2019:31618761}" "" "F" "?" "" "" "0" "" "" "" "H-I:2"
"00367205" "" "" "" "1" "" "01695" "{PMID:Sangermano 2019:30643219} {PMID:Runhart 2019:31618761}" "" "F" "?" "" "" "0" "" "" "" "I-II:3"
"00367206" "" "" "" "1" "" "01695" "{PMID:Sangermano 2019:30643219} {PMID:Runhart 2019:31618761}" "" "M" "?" "" "" "0" "" "" "" "J-II:3"
"00367207" "" "" "" "1" "" "01695" "{PMID:Sangermano 2019:30643219} {PMID:Runhart 2019:31618761}" "" "M" "?" "" "" "0" "" "" "" "K-II:1"
"00367208" "" "" "" "1" "" "01695" "{PMID:Sangermano 2019:30643219} {PMID:Runhart 2019:31618761}" "" "M" "?" "" "" "0" "" "" "" "L-II:1"
"00367209" "" "" "" "1" "" "01695" "{PMID:Sangermano 2019:30643219} {PMID:Runhart 2019:31618761}" "" "M" "?" "" "" "0" "" "" "" "M-II:1"
"00367210" "" "" "" "1" "" "01695" "{PMID:Sangermano 2019:30643219} {PMID:Runhart 2019:31618761}" "" "M" "?" "" "" "0" "" "" "" "N-II:3"
"00367211" "" "" "" "1" "" "01695" "{PMID:Sangermano 2019:30643219}" "" "M" "?" "" "" "0" "" "" "" "O-I:1"
"00367212" "" "" "" "1" "" "01695" "{PMID:Sangermano 2019:30643219}" "" "F" "?" "" "" "0" "" "" "" "P-II:3"
"00367213" "" "" "" "1" "" "01695" "{PMID:Sangermano 2019:30643219} {PMID:Runhart 2019:31618761}" "" "M" "?" "" "" "0" "" "" "" "Q-II:1"
"00367214" "" "" "" "1" "" "01695" "{PMID:Sangermano 2019:30643219}" "" "M" "?" "" "" "0" "" "" "" "R-II:1"
"00367215" "" "" "" "1" "" "01695" "{PMID:Sangermano 2019:30643219}" "" "F" "?" "" "" "0" "" "" "" "S-II:1"
"00367216" "" "" "" "1" "" "01695" "{PMID:Sangermano 2019:30643219}" "" "F" "?" "" "" "0" "" "" "" "T-II:1"
"00367217" "" "" "" "1" "" "01695" "{PMID:Sangermano 2019:30643219}" "" "M" "?" "" "" "0" "" "" "" "U-II:1"
"00367218" "" "" "" "1" "" "01695" "{PMID:Sangermano 2019:30643219}" "" "F" "?" "" "" "0" "" "" "" "V-II:1"
"00367219" "" "" "" "1" "" "01695" "{PMID:Sangermano 2019:30643219}" "" "" "?" "" "" "0" "" "" "" "W-II:1"
"00367220" "" "" "" "1" "" "01695" "{PMID:Sangermano 2019:30643219}" "" "" "?" "" "" "0" "" "" "" "X-II:1"
"00367221" "" "" "" "1" "" "01695" "{PMID:Bauwens 2019:30670881}" "" "F" "?" "" "" "0" "" "" "" "P3G2"
"00367222" "" "" "" "1" "" "01695" "{PMID:Bauwens 2019:30670881}" "" "M" "?" "" "" "0" "" "" "" "P12G7"
"00367223" "" "" "" "1" "" "01695" "{PMID:Bauwens 2019:30670881}" "" "F" "?" "" "" "0" "" "" "" "P1G2"
"00367224" "" "" "" "1" "" "01695" "{PMID:Bauwens 2019:30670881}" "" "F" "?" "" "" "0" "" "" "" "P5G16"
"00367225" "" "" "" "1" "" "01695" "{PMID:Bauwens 2019:30670881}" "" "F" "?" "" "" "0" "" "" "" "P11T2"
"00367226" "" "" "" "1" "" "01695" "{PMID:Bauwens 2019:30670881}" "" "F" "?" "" "" "0" "" "" "" "P7G7"
"00367227" "" "" "" "1" "" "01695" "{PMID:Bauwens 2019:30670881}" "" "F" "?" "" "" "0" "" "" "" "P8T2"
"00367228" "" "" "" "1" "" "01695" "{PMID:Bauwens 2019:30670881}" "" "M" "?" "" "" "0" "" "" "" "P1G1"
"00367229" "" "" "" "1" "" "01695" "{PMID:Bauwens 2019:30670881}" "" "F" "?" "" "" "0" "" "" "" "P5G7"
"00367230" "" "" "" "1" "" "01695" "{PMID:Bauwens 2019:30670881}" "" "F" "?" "" "" "0" "" "" "" "P4G1"
"00367231" "" "" "" "1" "" "01695" "{PMID:Bauwens 2019:30670881}" "" "F" "?" "" "" "0" "" "" "" "P3G15"
"00367232" "" "" "" "1" "" "01695" "{PMID:Bauwens 2019:30670881}" "" "F" "?" "" "" "0" "" "" "" "P10T3"
"00367233" "" "" "" "1" "" "01695" "{PMID:Bauwens 2019:30670881}{PMID:Weisschuh 2020:32531858}" "" "F" "?" "Germany" "" "0" "" "" "" "P6T3; 277"
"00367234" "" "" "" "1" "" "01695" "{PMID:Bauwens 2019:30670881}" "" "F" "?" "" "" "0" "" "" "" "P11T1"
"00367235" "" "" "" "1" "" "01695" "{PMID:Bauwens 2019:30670881}" "" "M" "?" "" "" "0" "" "" "" "P10G9"
"00367236" "" "" "" "1" "" "01695" "{PMID:Bauwens 2019:30670881}" "" "F" "?" "" "" "0" "" "" "" "P4G16"
"00367237" "" "" "" "1" "" "01695" "{PMID:Bauwens 2019:30670881}" "" "F" "?" "" "" "0" "" "" "" "P12G15"
"00367238" "" "" "" "1" "" "01695" "{PMID:Bauwens 2019:30670881}" "" "M" "?" "" "" "0" "" "" "" "P12G16"
"00367239" "" "" "" "1" "" "01695" "{PMID:Bauwens 2019:30670881}" "" "M" "?" "" "" "0" "" "" "" "P12G2"
"00367240" "" "" "" "1" "" "01695" "{PMID:Bauwens 2019:30670881}" "" "M" "?" "" "" "0" "" "" "" "P1G15"
"00367241" "" "" "" "1" "" "01695" "{PMID:Bauwens 2019:30670881}" "" "F" "?" "" "" "0" "" "" "" "P4G8"
"00367242" "" "" "" "1" "" "01695" "{PMID:Bauwens 2019:30670881}" "" "F" "?" "" "" "0" "" "" "" "P10G1"
"00367243" "" "" "" "1" "" "01695" "{PMID:Bauwens 2019:30670881}" "" "F" "?" "" "" "0" "" "" "" "P9G8"
"00367244" "" "" "" "1" "" "01695" "{PMID:Bauwens 2019:30670881}" "" "M" "?" "" "" "0" "" "" "" "P4T1"
"00367245" "" "" "" "1" "" "01695" "{PMID:Bauwens 2019:30670881}" "" "M" "?" "" "" "0" "" "" "" "P5T3"
"00367246" "" "" "" "1" "" "01695" "{PMID:Bauwens 2019:30670881}" "" "F" "?" "" "" "0" "" "" "" "P12T3"
"00367247" "" "" "" "1" "" "01695" "{PMID:Bauwens 2019:30670881}" "" "F" "?" "" "" "0" "" "" "" "P7G9"
"00367248" "" "" "" "1" "" "01695" "{PMID:Bauwens 2019:30670881}" "" "M" "?" "" "" "0" "" "" "" "P11G1"
"00367249" "" "" "" "1" "" "01695" "{PMID:Bauwens 2019:30670881}" "" "F" "?" "" "" "0" "" "" "" "P8T3"
"00367250" "" "" "" "1" "" "01695" "{PMID:Bauwens 2019:30670881}" "" "M" "?" "" "" "0" "" "" "" "P10G2"
"00367251" "" "" "" "1" "" "01695" "{PMID:Bauwens 2019:30670881}" "" "F" "?" "" "" "0" "" "" "" "P11G16"
"00367252" "" "" "" "1" "" "01695" "{PMID:Bauwens 2019:30670881}" "" "F" "?" "" "" "0" "" "" "" "P1G7"
"00367253" "" "" "" "1" "" "01695" "{PMID:Bauwens 2019:30670881}" "" "M" "?" "" "" "0" "" "" "" "P1G8"
"00367254" "" "" "" "1" "" "01695" "{PMID:Bauwens 2019:30670881}" "" "F" "?" "" "" "0" "" "" "" "P2G15"
"00367255" "" "" "" "1" "" "01695" "{PMID:Bauwens 2019:30670881}" "" "F" "?" "" "" "0" "" "" "" "P2G2"
"00367256" "" "" "" "1" "" "01695" "{PMID:Bauwens 2019:30670881}" "" "F" "?" "" "" "0" "" "" "" "P3G7"
"00367257" "" "" "" "1" "" "01695" "{PMID:Bauwens 2019:30670881}" "" "F" "?" "" "" "0" "" "" "" "P6G16"
"00367258" "" "" "" "1" "" "01695" "{PMID:Bauwens 2019:30670881}" "" "M" "?" "" "" "0" "" "" "" "P6G2"
"00367259" "" "" "" "1" "" "01695" "{PMID:Bauwens 2019:30670881}" "" "F" "?" "" "" "0" "" "" "" "P7G15"
"00367260" "" "" "" "1" "" "01695" "{PMID:Bauwens 2019:30670881}" "" "M" "?" "" "" "0" "" "" "" "P7G2"
"00367261" "" "" "" "1" "" "01695" "{PMID:Bauwens 2019:30670881}" "" "F" "?" "" "" "0" "" "" "" "P8G15"
"00367262" "" "" "" "1" "" "01695" "{PMID:Bauwens 2019:30670881}" "" "F" "?" "" "" "0" "" "" "" "P8G7"
"00367263" "" "" "" "1" "" "01695" "{PMID:Bauwens 2019:30670881}" "" "F" "?" "" "" "0" "" "" "" "P9G6"
"00367264" "" "" "" "1" "" "01695" "{PMID:Bauwens 2019:30670881}" "" "F" "?" "" "" "0" "" "" "" "P10G7"
"00367265" "" "" "" "1" "" "01695" "{PMID:Bauwens 2019:30670881}" "" "F" "?" "" "" "0" "" "" "" "P10T2"
"00367266" "" "" "" "1" "" "01695" "{PMID:Bauwens 2019:30670881}" "" "F" "?" "" "" "0" "" "" "" "P11G15"
"00367267" "" "" "" "1" "" "01695" "{PMID:Bauwens 2019:30670881}" "" "F" "?" "" "" "0" "" "" "" "P11G7"
"00367268" "" "" "" "1" "" "01695" "{PMID:Bauwens 2019:30670881}" "" "M" "?" "" "" "0" "" "" "" "P11G9"
"00367269" "" "" "" "1" "" "01695" "{PMID:Bauwens 2019:30670881}" "" "M" "?" "" "" "0" "" "" "" "P12T2"
"00367270" "" "" "" "1" "" "01695" "{PMID:Bauwens 2019:30670881}" "" "M" "?" "" "" "0" "" "" "" "P1G16"
"00367271" "" "" "" "1" "" "01695" "{PMID:Bauwens 2019:30670881}" "" "M" "?" "" "" "0" "" "" "" "P1T2"
"00367272" "" "" "" "1" "" "01695" "{PMID:Bauwens 2019:30670881}" "" "M" "?" "" "" "0" "" "" "" "P1T3"
"00367273" "" "" "" "1" "" "01695" "{PMID:Bauwens 2019:30670881}" "" "M" "?" "" "" "0" "" "" "" "P2G7"
"00367274" "" "" "" "1" "" "01695" "{PMID:Bauwens 2019:30670881}" "" "F" "?" "" "" "0" "" "" "" "P2T2"
"00367275" "" "" "" "1" "" "01695" "{PMID:Bauwens 2019:30670881}" "" "F" "?" "" "" "0" "" "" "" "P3G1"
"00367276" "" "" "" "1" "" "01695" "{PMID:Bauwens 2019:30670881}" "" "F" "?" "" "" "0" "" "" "" "P3G8"
"00367277" "" "" "" "1" "" "01695" "{PMID:Bauwens 2019:30670881}" "" "F" "?" "" "" "0" "" "" "" "P3T2"
"00367278" "" "" "" "1" "" "01695" "{PMID:Bauwens 2019:30670881}" "" "F" "?" "" "" "0" "" "" "" "P3T3"
"00367279" "" "" "" "1" "" "01695" "{PMID:Bauwens 2019:30670881}" "" "F" "?" "" "" "0" "" "" "" "P4G2"
"00367280" "" "" "" "1" "" "01695" "{PMID:Bauwens 2019:30670881}" "" "F" "?" "" "" "0" "" "" "" "P4T2"
"00367281" "" "" "" "1" "" "01695" "{PMID:Bauwens 2019:30670881}" "" "F" "?" "" "" "0" "" "" "" "P5G8"
"00367282" "" "" "" "1" "" "01695" "{PMID:Bauwens 2019:30670881}" "" "F" "?" "" "" "0" "" "" "" "P7G16"
"00367283" "" "" "" "1" "" "01695" "{PMID:Bauwens 2019:30670881}" "" "F" "?" "" "" "0" "" "" "" "P7T3"
"00367284" "" "" "" "1" "" "01695" "{PMID:Bauwens 2019:30670881}" "" "M" "?" "" "" "0" "" "" "" "P9G15"
"00367285" "" "" "" "1" "" "01695" "{PMID:Bauwens 2019:30670881}" "" "M" "?" "" "" "0" "" "" "" "P9T1"
"00367286" "" "" "" "1" "" "01695" "{PMID:Bauwens 2019:30670881}" "" "F" "?" "" "" "0" "" "" "" "P9T3"
"00367287" "" "" "" "1" "" "01695" "{PMID:Sheremet 2018:30721205}" "" "" "?" "Russia" "" "0" "" "" "" "A"
"00367288" "" "" "" "1" "" "01695" "{PMID:Sheremet 2018:30721205}" "" "M" "?" "Russia" "" "0" "" "" "" "B"
"00367289" "" "" "" "1" "" "01695" "{PMID:Riera 2019:30798147}" "" "F" "?" "" "" "0" "" "" "white" "STGD1_FiPS4F1.5"
"00367290" "" "" "" "1" "" "01695" "{PMID:Riera 2019:30798147} {PMID:Riera 2017:28181551}" "" "M" "?" "" "" "0" "" "" "white" "STGD2_FiPS4F1.7 / Fi15/32"
"00367291" "" "" "" "1" "" "01695" "{PMID:Riera 2017:28181551}" "" "" "?" "" "" "0" "" "" "" "Fi15/23*"
"00367292" "" "" "" "1" "" "01695" "{PMID:Riera 2017:28181551}" "" "" "?" "" "" "0" "" "" "" "Fi15/31*"
"00367293" "" "" "" "1" "" "01695" "{PMID:Riera 2017:28181551}" "" "" "?" "" "" "0" "" "" "" "Fi15/33*"
"00367294" "" "" "" "1" "" "01695" "{PMID:Riera 2017:28181551}" "" "" "?" "" "" "0" "" "" "" "Fi15/34"
"00367295" "" "" "" "1" "" "01695" "{PMID:Tayebi 2019:30820146}" "" "" "?" "Iran" "" "0" "" "" "Iran" "66,592"
"00367296" "" "" "" "1" "" "01695" "{PMID:Tayebi 2019:30820146}" "" "" "?" "Iran" "" "0" "" "" "Iran" "66,595"
"00367297" "" "" "" "1" "" "01695" "{PMID:Tayebi 2019:30820146}" "" "" "?" "Iran" "" "0" "" "" "Iran" "66,599"
"00367298" "" "" "" "1" "" "01695" "{PMID:Tayebi 2019:30820146}" "" "" "?" "Iran" "" "0" "" "" "Iran" "66,854"
"00367299" "" "" "" "1" "" "01695" "{PMID:Tayebi 2019:30820146}" "" "" "?" "Iran" "" "0" "" "" "Iran" "66,863"
"00367300" "" "" "" "1" "" "01695" "{PMID:Tayebi 2019:30820146}" "" "" "?" "Iran" "" "0" "" "" "Iran" "66,876"
"00367301" "" "" "" "1" "" "01695" "{PMID:Tanna 2019:30834176}" "" "F" "?" "" "" "0" "" "" "" "P1"
"00367302" "" "" "" "1" "" "01695" "{PMID:Tanna 2019:30834176}" "" "F" "?" "" "" "0" "" "" "" "P10"
"00367303" "" "" "" "1" "" "01695" "{PMID:Tanna 2019:30834176}" "" "F" "?" "" "" "0" "" "" "" "P11"
"00367304" "" "" "" "1" "" "01695" "{PMID:Tanna 2019:30834176}" "" "F" "?" "" "" "0" "" "" "" "P12"
"00367305" "" "" "" "1" "" "01695" "{PMID:Tanna 2019:30834176}" "" "F" "?" "" "" "0" "" "" "" "P13"
"00367306" "" "" "" "1" "" "01695" "{PMID:Tanna 2019:30834176}" "" "M" "?" "" "" "0" "" "" "" "P14"
"00367307" "" "" "" "1" "" "01695" "{PMID:Tanna 2019:30834176}" "" "F" "?" "" "" "0" "" "" "" "P15"
"00367308" "" "" "" "1" "" "01695" "{PMID:Tanna 2019:30834176}" "" "F" "?" "" "" "0" "" "" "" "P16"
"00367309" "" "" "" "1" "" "01695" "{PMID:Tanna 2019:30834176}" "" "M" "?" "" "" "0" "" "" "" "P17"
"00367310" "" "" "" "1" "" "01695" "{PMID:Tanna 2019:30834176}" "" "F" "?" "" "" "0" "" "" "" "P18"
"00367311" "" "" "" "1" "" "01695" "{PMID:Tanna 2019:30834176}" "" "M" "?" "" "" "0" "" "" "" "P19"
"00367312" "" "" "" "1" "" "01695" "{PMID:Tanna 2019:30834176}" "" "M" "?" "" "" "0" "" "" "" "P2"
"00367313" "" "" "" "1" "" "01695" "{PMID:Tanna 2019:30834176}" "" "M" "?" "" "" "0" "" "" "" "P20"
"00367314" "" "" "" "1" "" "01695" "{PMID:Tanna 2019:30834176}" "" "M" "?" "" "" "0" "" "" "" "P21"
"00367315" "" "" "" "1" "" "01695" "{PMID:Tanna 2019:30834176}" "" "F" "?" "" "" "0" "" "" "" "P22"
"00367316" "" "" "" "1" "" "01695" "{PMID:Tanna 2019:30834176}" "" "M" "?" "" "" "0" "" "" "" "P23"
"00367317" "" "" "" "1" "" "01695" "{PMID:Tanna 2019:30834176}" "" "F" "?" "" "" "0" "" "" "" "P24"
"00367318" "" "" "" "1" "" "01695" "{PMID:Tanna 2019:30834176}" "" "F" "?" "" "" "0" "" "" "" "P25"
"00367319" "" "" "" "1" "" "01695" "{PMID:Tanna 2019:30834176}" "" "F" "?" "" "" "0" "" "" "" "P26"
"00367320" "" "" "" "1" "" "01695" "{PMID:Tanna 2019:30834176}" "" "F" "?" "" "" "0" "" "" "" "P27"
"00367321" "" "" "" "1" "" "01695" "{PMID:Tanna 2019:30834176}" "" "F" "?" "" "" "0" "" "" "" "P28"
"00367322" "" "" "" "1" "" "01695" "{PMID:Tanna 2019:30834176}" "" "M" "?" "" "" "0" "" "" "" "P29"
"00367323" "" "" "" "1" "" "01695" "{PMID:Tanna 2019:30834176}" "" "M" "?" "" "" "0" "" "" "" "P3"
"00367324" "" "" "" "1" "" "01695" "{PMID:Tanna 2019:30834176}" "" "M" "?" "" "" "0" "" "" "" "P30"
"00367325" "" "" "" "1" "" "01695" "{PMID:Tanna 2019:30834176}" "" "M" "?" "" "" "0" "" "" "" "P31"
"00367326" "" "" "" "1" "" "01695" "{PMID:Tanna 2019:30834176}" "" "F" "?" "" "" "0" "" "" "" "P32"
"00367327" "" "" "" "1" "" "01695" "{PMID:Tanna 2019:30834176}" "" "F" "?" "" "" "0" "" "" "" "P33"
"00367328" "" "" "" "1" "" "01695" "{PMID:Tanna 2019:30834176}" "" "M" "?" "" "" "0" "" "" "" "P34"
"00367329" "" "" "" "1" "" "01695" "{PMID:Tanna 2019:30834176}" "" "F" "?" "" "" "0" "" "" "" "P35"
"00367330" "" "" "" "1" "" "01695" "{PMID:Tanna 2019:30834176}" "" "F" "?" "" "" "0" "" "" "" "P36"
"00367331" "" "" "" "1" "" "01695" "{PMID:Tanna 2019:30834176}" "" "F" "?" "" "" "0" "" "" "" "P37"
"00367332" "" "" "" "1" "" "01695" "{PMID:Tanna 2019:30834176}" "" "F" "?" "" "" "0" "" "" "" "P38"
"00367333" "" "" "" "1" "" "01695" "{PMID:Tanna 2019:30834176}" "" "F" "?" "" "" "0" "" "" "" "P39"
"00367334" "" "" "" "1" "" "01695" "{PMID:Tanna 2019:30834176}" "" "F" "?" "" "" "0" "" "" "" "P4"
"00367335" "" "" "" "1" "" "01695" "{PMID:Tanna 2019:30834176}" "" "M" "?" "" "" "0" "" "" "" "P40"
"00367336" "" "" "" "1" "" "01695" "{PMID:Tanna 2019:30834176}" "" "M" "?" "" "" "0" "" "" "" "P41"
"00367337" "" "" "" "1" "" "01695" "{PMID:Tanna 2019:30834176}" "" "M" "?" "" "" "0" "" "" "" "P42"
"00367338" "" "" "" "1" "" "01695" "{PMID:Tanna 2019:30834176}" "" "M" "?" "" "" "0" "" "" "" "P43"
"00367339" "" "" "" "1" "" "01695" "{PMID:Tanna 2019:30834176}" "" "M" "?" "" "" "0" "" "" "" "P44"
"00367340" "" "" "" "1" "" "01695" "{PMID:Tanna 2019:30834176}" "" "F" "?" "" "" "0" "" "" "" "P45"
"00367341" "" "" "" "1" "" "01695" "{PMID:Tanna 2019:30834176}" "" "F" "?" "" "" "0" "" "" "" "P46"
"00367342" "" "" "" "1" "" "01695" "{PMID:Tanna 2019:30834176}" "" "F" "?" "" "" "0" "" "" "" "P5"
"00367343" "" "" "" "1" "" "01695" "{PMID:Tanna 2019:30834176}" "" "F" "?" "" "" "0" "" "" "" "P6"
"00367344" "" "" "" "1" "" "01695" "{PMID:Tanna 2019:30834176}" "" "M" "?" "" "" "0" "" "" "" "P7"
"00367345" "" "" "" "1" "" "01695" "{PMID:Tanna 2019:30834176}" "" "M" "?" "" "" "0" "" "" "" "P8"
"00367346" "" "" "" "1" "" "01695" "{PMID:Tanna 2019:30834176}" "" "F" "?" "" "" "0" "" "" "" "P9"
"00367347" "" "" "" "1" "" "01695" "{PMID:Bax 2019:30903310}" "" "M" "?" "Netherlands" "" "0" "" "" "" "1"
"00367348" "" "" "" "1" "" "01695" "{PMID:Bax 2019:30903310}" "" "M" "?" "Netherlands" "" "0" "" "" "" "2"
"00367349" "" "" "" "1" "" "01695" "{PMID:Bax 2019:30903310}" "" "F" "?" "Netherlands" "" "0" "" "" "" "3"
"00367350" "" "" "" "1" "" "01695" "{PMID:Bax 2019:30903310}" "" "M" "?" "Netherlands" "" "0" "" "" "" "4"
"00367351" "" "" "" "1" "" "01695" "{PMID:Bax 2019:30903310}" "" "F" "?" "Netherlands" "" "0" "" "" "" "5"
"00367352" "" "" "" "1" "" "01695" "{PMID:Bax 2019:30903310}" "" "F" "?" "Netherlands" "" "0" "" "" "" "6"
"00367353" "" "" "" "1" "" "01695" "{PMID:Bax 2019:30903310}" "sibling of patient 10" "M" "?" "Netherlands" "" "0" "" "" "" "9"
"00367354" "" "" "" "1" "" "01695" "{PMID:Bax 2019:30903310}" "sibling of patient 9" "F" "?" "Netherlands" "" "0" "" "" "" "10"
"00367355" "" "" "" "1" "" "01695" "{PMID:Bax 2019:30903310}" "" "M" "?" "Netherlands" "" "0" "" "" "" "11"
"00367356" "" "" "" "1" "" "01695" "{PMID:Bax 2019:30903310}" "" "M" "?" "Netherlands" "" "0" "" "" "" "12"
"00367357" "" "" "" "1" "" "01695" "{PMID:Bax 2019:30903310}" "" "F" "?" "Netherlands" "" "0" "" "" "" "13"
"00367358" "" "" "" "1" "" "01695" "{PMID:Bax 2019:30903310}" "" "F" "?" "Netherlands" "" "0" "" "" "" "14"
"00367359" "" "" "" "1" "" "01695" "{PMID:Bax 2019:30903310}" "" "M" "?" "Netherlands" "" "0" "" "" "" "15"
"00367360" "" "" "" "1" "" "01695" "{PMID:Bax 2019:30903310}" "" "F" "?" "Netherlands" "" "0" "" "" "" "16"
"00367361" "" "" "" "1" "" "01695" "{PMID:Bax 2019:30903310}" "" "M" "?" "Netherlands" "" "0" "" "" "" "17"
"00367362" "" "" "" "1" "" "01695" "{PMID:Bax 2019:30903310}" "" "F" "?" "Netherlands" "" "0" "" "" "" "19"
"00367363" "" "" "" "1" "" "01695" "{PMID:Bax 2019:30903310}" "" "M" "?" "Netherlands" "" "0" "" "" "" "20"
"00367364" "" "" "" "1" "" "01695" "{PMID:Bax 2019:30903310}" "" "F" "?" "Netherlands" "" "0" "" "" "" "21"
"00367365" "" "" "" "1" "" "01695" "{PMID:Bax 2019:30903310}" "" "M" "?" "Netherlands" "" "0" "" "" "" "22"
"00367366" "" "" "" "1" "" "01695" "{PMID:Bax 2019:30903310}" "" "F" "?" "Netherlands" "" "0" "" "" "" "23"
"00367367" "" "" "" "1" "" "01695" "{PMID:Bax 2019:30903310}" "sibling of patient 25" "M" "?" "Netherlands" "" "0" "" "" "" "24"
"00367368" "" "" "" "1" "" "01695" "{PMID:Bax 2019:30903310}" "sibling of patient 24" "F" "?" "Netherlands" "" "0" "" "" "" "25"
"00367369" "" "" "" "1" "" "01695" "{PMID:Bax 2019:30903310}" "" "M" "?" "Netherlands" "" "0" "" "" "" "26"
"00367370" "" "" "" "1" "" "01695" "{PMID:Bax 2019:30903310}" "" "F" "?" "Netherlands" "" "0" "" "" "" "27"
"00367371" "" "" "" "1" "" "01695" "{PMID:Bax 2019:30903310}" "" "M" "?" "Netherlands" "" "0" "" "" "" "28"
"00367372" "" "" "" "1" "" "01695" "{PMID:Bax 2019:30903310}" "" "F" "?" "Netherlands" "" "0" "" "" "" "29"
"00367373" "" "" "" "1" "" "01695" "{PMID:Bax 2019:30903310}" "" "F" "?" "Netherlands" "" "0" "" "" "" "30"
"00367374" "" "" "" "1" "" "01695" "{PMID:Bax 2019:30903310}" "" "M" "?" "Netherlands" "" "0" "" "" "" "31"
"00367375" "" "" "" "1" "" "01695" "{PMID:Nasser 2019:30945053}" "Also CRX c.425A>G;p.Tyr142Cys had been found heterozygously" "M" "?" "Germany" "" "0" "" "" "" "1"
"00367376" "" "" "" "1" "" "01695" "{PMID:Kim 2019:31144483}" "" "" "?" "Korea" "" "0" "" "" "Korea" "Unknown 639"
"00367377" "" "" "" "1" "" "01695" "{PMID:Kim 2019:31144483}" "" "" "?" "Korea" "" "0" "" "" "Korea" "Unknown 640"
"00367378" "" "" "" "1" "" "01695" "{PMID:Kim 2019:31144483}" "" "" "?" "Korea" "" "0" "" "" "Korea" "Unknown 641"
"00367379" "" "" "" "1" "" "01695" "{PMID:Kim 2019:31144483}" "" "" "?" "Korea" "" "0" "" "" "Korea" "Unknown 642"
"00367380" "" "" "" "1" "" "01695" "{PMID:Kim 2019:31144483}" "likely a family member of Unknown 644" "" "?" "Korea" "" "0" "" "" "Korea" "Unknown 643"
"00367381" "" "" "" "1" "" "01695" "{PMID:Kim 2019:31144483}" "likely a family member of Unknown 643" "" "?" "Korea" "" "0" "" "" "Korea" "Unknown 644"
"00367382" "" "" "" "1" "" "01695" "{PMID:Kim 2019:31144483}" "" "" "?" "Korea" "" "0" "" "" "Korea" "Unknown 645"
"00367383" "" "" "" "1" "" "01695" "{PMID:Kim 2019:31144483}" "" "" "?" "Korea" "" "0" "" "" "Korea" "Unknown 646"
"00367384" "" "" "" "1" "" "01695" "{PMID:Albert 2018:29526278}" "" "" "?" "United States" "" "0" "" "" "" "P2"
"00367385" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "?" "Germany" "" "0" "" "" "" "66651"
"00367386" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "?" "Germany" "" "0" "" "" "" "66663"
"00367387" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "?" "Germany" "" "0" "" "" "" "66666"
"00367388" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "?" "Germany" "" "0" "" "" "" "66669"
"00367389" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "?" "Germany" "" "0" "" "" "" "66674"
"00367390" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "?" "Germany" "" "0" "" "" "" "66675"
"00367391" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "?" "Germany" "" "0" "" "" "" "66679"
"00367392" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "?" "Germany" "" "0" "" "" "" "66690"
"00367393" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "?" "Germany" "" "0" "" "" "" "66692"
"00367394" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "?" "Germany" "" "0" "" "" "" "66696"
"00367395" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "?" "Germany" "" "0" "" "" "" "66701"
"00367396" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "?" "Germany" "" "0" "" "" "" "66703"
"00367397" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "?" "Germany" "" "0" "" "" "" "66705"
"00367398" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "?" "Germany" "" "0" "" "" "" "66706"
"00367399" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "?" "Germany" "" "0" "" "" "" "66707"
"00367400" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "?" "Germany" "" "0" "" "" "" "66710"
"00367401" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "?" "Germany" "" "0" "" "" "" "66711"
"00367402" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "?" "Germany" "" "0" "" "" "" "66712"
"00367403" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "?" "Germany" "" "0" "" "" "" "66713"
"00367404" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "?" "Germany" "" "0" "" "" "" "66715"
"00367405" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "?" "Germany" "" "0" "" "" "" "66718"
"00367406" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "?" "Germany" "" "0" "" "" "" "66723"
"00367407" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "?" "Germany" "" "0" "" "" "" "66725"
"00367408" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "?" "Germany" "" "0" "" "" "" "66727"
"00367409" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "?" "Germany" "" "0" "" "" "" "66729"
"00367410" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "?" "Germany" "" "0" "" "" "" "66730"
"00367411" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "?" "Germany" "" "0" "" "" "" "66731"
"00367412" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "?" "Germany" "" "0" "" "" "" "66734"
"00367413" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "?" "Germany" "" "0" "" "" "" "66736"
"00367414" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "?" "Germany" "" "0" "" "" "" "66737"
"00367415" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "?" "Germany" "" "0" "" "" "" "66739"
"00367416" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "?" "Germany" "" "0" "" "" "" "66746"
"00367417" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "?" "Germany" "" "0" "" "" "" "66759"
"00367418" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "?" "Germany" "" "0" "" "" "" "66761"
"00367419" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "?" "Germany" "" "0" "" "" "" "66762"
"00367420" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "?" "Germany" "" "0" "" "" "" "66764"
"00367421" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "?" "Germany" "" "0" "" "" "" "66770"
"00367422" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "?" "Germany" "" "0" "" "" "" "66775"
"00367423" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "?" "Germany" "" "0" "" "" "" "66786"
"00367424" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "?" "Germany" "" "0" "" "" "" "66787"
"00367425" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "?" "Germany" "" "0" "" "" "" "66792"
"00367426" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "?" "Germany" "" "0" "" "" "" "66794"
"00367427" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "?" "Germany" "" "0" "" "" "" "66800"
"00367428" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "?" "Germany" "" "0" "" "" "" "66807"
"00367429" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "?" "Germany" "" "0" "" "" "" "66820"
"00367430" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "?" "Germany" "" "0" "" "" "" "66823"
"00367431" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "?" "Germany" "" "0" "" "" "" "66827"
"00367432" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "?" "Germany" "" "0" "" "" "" "66840"
"00367433" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "?" "France" "" "0" "" "" "" "67108"
"00367434" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "?" "France" "" "0" "" "" "" "67113"
"00367435" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "?" "France" "" "0" "" "" "" "67118"
"00367436" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "?" "France" "" "0" "" "" "" "67124"
"00367437" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "?" "France" "" "0" "" "" "" "67126"
"00367438" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "?" "France" "" "0" "" "" "" "67128"
"00367439" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "?" "France" "" "0" "" "" "" "67129"
"00367440" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "?" "France" "" "0" "" "" "" "67133"
"00367441" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "?" "France" "" "0" "" "" "" "67135"
"00367442" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "?" "France" "" "0" "" "" "" "67136"
"00367443" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "?" "France" "" "0" "" "" "" "67138"
"00367444" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "?" "France" "" "0" "" "" "" "67140"
"00367445" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "?" "France" "" "0" "" "" "" "67142"
"00367446" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "?" "France" "" "0" "" "" "" "67143"
"00367447" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "?" "France" "" "0" "" "" "" "67145"
"00367448" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "?" "France" "" "0" "" "" "" "67146"
"00367449" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "?" "France" "" "0" "" "" "" "67148"
"00367450" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "?" "France" "" "0" "" "" "" "67150"
"00367451" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "?" "France" "" "0" "" "" "" "67152"
"00367452" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "?" "France" "" "0" "" "" "" "67158"
"00367453" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "?" "France" "" "0" "" "" "" "67161"
"00367454" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "?" "France" "" "0" "" "" "" "67162"
"00367455" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "?" "France" "" "0" "" "" "" "67169"
"00367456" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "?" "France" "" "0" "" "" "" "67170"
"00367457" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "?" "France" "" "0" "" "" "" "67172"
"00367458" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "?" "France" "" "0" "" "" "" "67178"
"00367459" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "?" "France" "" "0" "" "" "" "67180"
"00367460" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "?" "France" "" "0" "" "" "" "67184"
"00367461" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "?" "France" "" "0" "" "" "" "67185"
"00367462" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "?" "France" "" "0" "" "" "" "67188"
"00367463" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "?" "France" "" "0" "" "" "" "67191"
"00367464" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "?" "France" "" "0" "" "" "" "67192"
"00367465" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "?" "France" "" "0" "" "" "" "67197"
"00367466" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "?" "France" "" "0" "" "" "" "67198"
"00367467" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "?" "France" "" "0" "" "" "" "67199"
"00367468" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "?" "France" "" "0" "" "" "" "67203"
"00367469" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "?" "France" "" "0" "" "" "" "67204"
"00367470" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "?" "France" "" "0" "" "" "" "67206"
"00367471" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "?" "France" "" "0" "" "" "" "67207"
"00367472" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "?" "France" "" "0" "" "" "" "67209"
"00367473" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "?" "France" "" "0" "" "" "" "67211"
"00367474" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "?" "France" "" "0" "" "" "" "67217"
"00367475" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "?" "France" "" "0" "" "" "" "67218"
"00367476" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "?" "France" "" "0" "" "" "" "67223"
"00367477" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "?" "France" "" "0" "" "" "" "67224"
"00367478" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "?" "France" "" "0" "" "" "" "67227"
"00367479" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "?" "France" "" "0" "" "" "" "67228"
"00367480" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "?" "France" "" "0" "" "" "" "67229"
"00367481" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "?" "France" "" "0" "" "" "" "67230"
"00367482" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "?" "France" "" "0" "" "" "" "67231"
"00367483" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "?" "France" "" "0" "" "" "" "67232"
"00367484" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "?" "France" "" "0" "" "" "" "67233"
"00367485" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "?" "France" "" "0" "" "" "" "67238"
"00367486" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "?" "France" "" "0" "" "" "" "67239"
"00367487" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "?" "France" "" "0" "" "" "" "67240"
"00367488" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "?" "France" "" "0" "" "" "" "67241"
"00367489" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "?" "France" "" "0" "" "" "" "67243"
"00367490" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "?" "France" "" "0" "" "" "" "67249"
"00367491" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "?" "France" "" "0" "" "" "" "67256"
"00367492" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "?" "France" "" "0" "" "" "" "67262"
"00367493" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "?" "France" "" "0" "" "" "" "67269"
"00367494" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "?" "France" "" "0" "" "" "" "67270"
"00367495" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "?" "France" "" "0" "" "" "" "67273"
"00367496" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "?" "France" "" "0" "" "" "" "67279"
"00367497" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "?" "France" "" "0" "" "" "" "67280"
"00367498" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "?" "France" "" "0" "" "" "" "67282"
"00367499" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "?" "France" "" "0" "" "" "" "67285"
"00367500" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "?" "France" "" "0" "" "" "" "67286"
"00367501" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "?" "France" "" "0" "" "" "" "67290"
"00367502" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "?" "France" "" "0" "" "" "" "67293"
"00367503" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "?" "France" "" "0" "" "" "" "67296"
"00367504" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "?" "France" "" "0" "" "" "" "67305"
"00367505" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "?" "France" "" "0" "" "" "" "67306"
"00367506" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "?" "France" "" "0" "" "" "" "67307"
"00367507" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "?" "France" "" "0" "" "" "" "67308"
"00367508" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "?" "France" "" "0" "" "" "" "67314"
"00367509" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "?" "France" "" "0" "" "" "" "67316"
"00367510" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "?" "France" "" "0" "" "" "" "67320"
"00367511" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "?" "France" "" "0" "" "" "" "67325"
"00367512" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31212395}" "" "" "?" "France" "" "0" "" "" "" "67332"
"00367513" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31318848}" "" "M" "?" "United Arab Emirates" "" "0" "" "" "United Arab Emirates" "1"
"00367514" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31318848}" "Cousin of patient 3" "M" "?" "United Arab Emirates" "" "0" "" "" "United Arab Emirates" "2"
"00367515" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31318848}" "Cousin of patient 2" "M" "?" "United Arab Emirates" "" "0" "" "" "United Arab Emirates" "3"
"00367516" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31318848}" "" "F" "?" "United Arab Emirates" "" "0" "" "" "United Arab Emirates" "4"
"00367517" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31318848}" "" "M" "?" "United Arab Emirates" "" "0" "" "" "United Arab Emirates" "5"
"00367518" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31318848}" "Sibling of patient 7" "M" "?" "United Arab Emirates" "" "0" "" "" "United Arab Emirates" "6"
"00367519" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31318848}" "Sibling of patient 6" "F" "?" "United Arab Emirates" "" "0" "" "" "United Arab Emirates" "7"
"00367520" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31318848}" "" "F" "?" "United Arab Emirates" "" "0" "" "" "United Arab Emirates" "8"
"00367521" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31318848}" "" "M" "?" "United Arab Emirates" "" "0" "" "" "United Arab Emirates" "9"
"00367522" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31318848}" "" "F" "?" "United Arab Emirates" "" "0" "" "" "United Arab Emirates" "10"
"00367523" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31318848}" "" "M" "?" "United Arab Emirates" "" "0" "" "" "United Arab Emirates" "11"
"00367524" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31318848}" "" "F" "?" "United Arab Emirates" "" "0" "" "" "United Arab Emirates" "12"
"00367525" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31318848}" "" "F" "?" "United Arab Emirates" "" "0" "" "" "United Arab Emirates" "13"
"00367526" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31318848}" "" "F" "?" "United Arab Emirates" "" "0" "" "" "United Arab Emirates" "14"
"00367527" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31318848}" "Sibling of patient 16" "F" "?" "United Arab Emirates" "" "0" "" "" "United Arab Emirates" "15"
"00367528" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31318848}" "Sibling of patient 15" "M" "?" "United Arab Emirates" "" "0" "" "" "United Arab Emirates" "16"
"00367529" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31318848}" "" "F" "?" "United Arab Emirates" "" "0" "" "" "United Arab Emirates" "17"
"00367530" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31318848}" "" "M" "?" "United Arab Emirates" "" "0" "" "" "United Arab Emirates" "18"
"00367531" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31318848}" "" "M" "?" "United Arab Emirates" "" "0" "" "" "United Arab Emirates" "19"
"00367532" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31318848}" "" "F" "?" "United Arab Emirates" "" "0" "" "" "United Arab Emirates" "20"
"00367533" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31318848}" "" "M" "?" "United Arab Emirates" "" "0" "" "" "United Arab Emirates" "21"
"00367534" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31318848}" "" "F" "?" "United Arab Emirates" "" "0" "" "" "United Arab Emirates" "22"
"00367535" "" "" "" "1" "" "01695" "{PMID:Fadaie 2019:31397521}" "sibling of A-2" "" "?" "" "" "0" "" "" "" "A-1"
"00367536" "" "" "" "1" "" "01695" "{PMID:Fadaie 2019:31397521}" "sibling of A-1" "" "?" "" "" "0" "" "" "" "A-2"
"00367537" "" "" "" "1" "" "01695" "{PMID:Fadaie 2019:31397521}" "Sibling of B-2" "" "?" "" "" "0" "" "" "" "B-1"
"00367538" "" "" "" "1" "" "01695" "{PMID:Fadaie 2019:31397521}" "" "" "?" "" "" "0" "" "" "" "C"
"00367539" "" "" "" "1" "" "01695" "{PMID:Fadaie 2019:31397521}" "" "" "?" "" "" "0" "" "" "" "D"
"00367540" "" "" "" "1" "" "01695" "{PMID:Fadaie 2019:31397521}" "" "" "?" "" "" "0" "" "" "" "E"
"00367541" "" "" "" "1" "" "01695" "{PMID:Fadaie 2019:31397521}" "" "" "?" "" "" "0" "" "" "" "F"
"00367542" "" "" "" "1" "" "01695" "{PMID:Fadaie 2019:31397521}" "" "" "?" "" "" "0" "" "" "" "G"
"00367543" "" "" "" "1" "" "01695" "{PMID:Fadaie 2019:31397521}" "" "" "?" "" "" "0" "" "" "" "H"
"00367544" "" "" "" "1" "" "01695" "{PMID:Fadaie 2019:31397521}" "" "" "?" "" "" "0" "" "" "" "I"
"00367545" "" "" "" "1" "" "01695" "{PMID:Fadaie 2019:31397521}" "sibling of J-2" "" "?" "" "" "0" "" "" "" "J-1"
"00367546" "" "" "" "1" "" "01695" "{PMID:Fadaie 2019:31397521}" "" "" "?" "" "" "0" "" "" "" "K"
"00367547" "" "" "" "1" "" "01695" "{PMID:Fadaie 2019:31397521}" "" "" "?" "" "" "0" "" "" "" "L"
"00367548" "" "" "" "1" "" "01695" "{PMID:Fadaie 2019:31397521}" "sibling of J-1" "" "?" "" "" "0" "" "" "" "J-2"
"00367549" "" "" "" "1" "" "01695" "{PMID:Fadaie 2019:31397521}" "Sibling of B-1" "" "?" "" "" "0" "" "" "" "B-2"
"00367550" "" "" "" "1" "" "01695" "{PMID:Holtan 2019:31429209}" "" "" "?" "Norway" "" "0" "" "" "" "Unknown 647"
"00367551" "" "" "" "1" "" "01695" "{PMID:Holtan 2019:31429209}" "" "" "?" "Norway" "" "0" "" "" "" "Unknown 648"
"00367552" "" "" "" "1" "" "01695" "{PMID:Holtan 2019:31429209}" "" "" "?" "Norway" "" "0" "" "" "" "Unknown 649"
"00367553" "" "" "" "1" "" "01695" "{PMID:Holtan 2019:31429209}" "" "" "?" "Norway" "" "0" "" "" "" "Unknown 650"
"00367554" "" "" "" "1" "" "01695" "{PMID:Holtan 2019:31429209}" "" "" "?" "Norway" "" "0" "" "" "" "Unknown 651"
"00367555" "" "" "" "1" "" "01695" "{PMID:Holtan 2019:31429209}" "" "" "?" "Norway" "" "0" "" "" "" "Unknown 652"
"00367556" "" "" "" "1" "" "01695" "{PMID:Holtan 2019:31429209}" "" "" "?" "Norway" "" "0" "" "" "" "Unknown 653"
"00367557" "" "" "" "1" "" "01695" "{PMID:Holtan 2019:31429209}" "" "" "?" "Norway" "" "0" "" "" "" "Unknown 654"
"00367558" "" "" "" "1" "" "01695" "{PMID:Holtan 2019:31429209}" "" "" "?" "Norway" "" "0" "" "" "" "Unknown 655"
"00367559" "" "" "" "1" "" "01695" "{PMID:Holtan 2019:31429209}" "" "" "?" "Norway" "" "0" "" "" "" "Unknown 656"
"00367560" "" "" "" "1" "" "01695" "{PMID:Holtan 2019:31429209}" "" "" "?" "Norway" "" "0" "" "" "" "Unknown 657"
"00367561" "" "" "" "1" "" "01695" "{PMID:Holtan 2019:31429209}" "" "" "?" "Norway" "" "0" "" "" "" "Unknown 658"
"00367562" "" "" "" "1" "" "01695" "{PMID:Holtan 2019:31429209}" "" "" "?" "Norway" "" "0" "" "" "" "Unknown 659"
"00367563" "" "" "" "1" "" "01695" "{PMID:Holtan 2019:31429209}" "" "" "?" "Norway" "" "0" "" "" "" "Unknown 660"
"00367564" "" "" "" "1" "" "01695" "{PMID:Holtan 2019:31429209}" "" "" "?" "Norway" "" "0" "" "" "" "Unknown 661"
"00367565" "" "" "" "1" "" "01695" "{PMID:Holtan 2019:31429209}" "" "" "?" "Norway" "" "0" "" "" "" "Unknown 662"
"00367566" "" "" "" "1" "" "01695" "{PMID:Holtan 2019:31429209}" "" "" "?" "Norway" "" "0" "" "" "" "Unknown 663"
"00367567" "" "" "" "1" "" "01695" "{PMID:Holtan 2019:31429209}" "" "" "?" "Norway" "" "0" "" "" "" "Unknown 664"
"00367568" "" "" "" "1" "" "01695" "{PMID:Holtan 2019:31429209}" "" "" "?" "Norway" "" "0" "" "" "" "Unknown 665"
"00367569" "" "" "" "1" "" "01695" "{PMID:Holtan 2019:31429209}" "" "" "?" "Norway" "" "0" "" "" "" "Unknown 666"
"00367570" "" "" "" "1" "" "01695" "{PMID:Holtan 2019:31429209}" "" "" "?" "Norway" "" "0" "" "" "" "Unknown 667"
"00367571" "" "" "" "1" "" "01695" "{PMID:Holtan 2019:31429209}" "" "" "?" "Norway" "" "0" "" "" "" "Unknown 668"
"00367572" "" "" "" "1" "" "01695" "{PMID:Holtan 2019:31429209}" "" "" "?" "Norway" "" "0" "" "" "" "Unknown 669"
"00367573" "" "" "" "1" "" "01695" "{PMID:Holtan 2019:31429209}" "" "" "?" "Norway" "" "0" "" "" "" "Unknown 670"
"00367574" "" "" "" "1" "" "01695" "{PMID:Holtan 2019:31429209}" "" "" "?" "Norway" "" "0" "" "" "" "Unknown 671"
"00367575" "" "" "" "1" "" "01695" "{PMID:Holtan 2019:31429209}" "" "" "?" "Norway" "" "0" "" "" "" "Unknown 672"
"00367576" "" "" "" "1" "" "01695" "{PMID:Holtan 2019:31429209}" "" "" "?" "Norway" "" "0" "" "" "" "Unknown 673"
"00367577" "" "" "" "1" "" "01695" "{PMID:Holtan 2019:31429209}" "" "" "?" "Norway" "" "0" "" "" "" "Unknown 674"
"00367578" "" "" "" "1" "" "01695" "{PMID:Holtan 2019:31429209}" "" "" "?" "Norway" "" "0" "" "" "" "Unknown 675"
"00367579" "" "" "" "1" "" "01695" "{PMID:Holtan 2019:31429209}" "" "" "?" "Norway" "" "0" "" "" "" "Unknown 676"
"00367580" "" "" "" "1" "" "01695" "{PMID:Holtan 2019:31429209}" "" "" "?" "Norway" "" "0" "" "" "" "Unknown 677"
"00367581" "" "" "" "1" "" "01695" "{PMID:Holtan 2019:31429209}" "" "" "?" "Norway" "" "0" "" "" "" "Unknown 678"
"00367582" "" "" "" "1" "" "01695" "{PMID:Holtan 2019:31429209}" "" "" "?" "Norway" "" "0" "" "" "" "Unknown 679"
"00367583" "" "" "" "1" "" "01695" "{PMID:Holtan 2019:31429209}" "" "" "?" "Norway" "" "0" "" "" "" "Unknown 680"
"00367584" "" "" "" "1" "" "01695" "{PMID:Holtan 2019:31429209}" "" "" "?" "Norway" "" "0" "" "" "" "Unknown 681"
"00367585" "" "" "" "1" "" "01695" "{PMID:Holtan 2019:31429209}" "" "" "?" "Norway" "" "0" "" "" "" "Unknown 682"
"00367586" "" "" "" "1" "" "01695" "{PMID:Holtan 2019:31429209}" "" "" "?" "Norway" "" "0" "" "" "" "Unknown 683"
"00367587" "" "" "" "1" "" "01695" "{PMID:Holtan 2019:31429209}" "" "" "?" "Norway" "" "0" "" "" "" "Unknown 684"
"00367588" "" "" "" "1" "" "01695" "{PMID:Holtan 2019:31429209}" "" "" "?" "Norway" "" "0" "" "" "" "Unknown 685"
"00367589" "" "" "" "1" "" "01695" "{PMID:Holtan 2019:31429209}" "" "" "?" "Norway" "" "0" "" "" "" "Unknown 686"
"00367590" "" "" "" "1" "" "01695" "{PMID:Holtan 2019:31429209}" "" "" "?" "Norway" "" "0" "" "" "" "Unknown 687"
"00367591" "" "" "" "1" "" "01695" "{PMID:Holtan 2019:31429209}" "" "" "?" "Norway" "" "0" "" "" "" "Unknown 688"
"00367592" "" "" "" "1" "" "01695" "{PMID:Holtan 2019:31429209}" "" "" "?" "Norway" "" "0" "" "" "" "Unknown 689"
"00367593" "" "" "" "1" "" "01695" "{PMID:Holtan 2019:31429209}" "" "" "?" "Norway" "" "0" "" "" "" "Unknown 690"
"00367594" "" "" "" "1" "" "01695" "{PMID:Holtan 2019:31429209}" "" "" "?" "Norway" "" "0" "" "" "" "Unknown 691"
"00367595" "" "" "" "1" "" "01695" "{PMID:Holtan 2019:31429209}" "" "" "?" "Norway" "" "0" "" "" "" "Unknown 692"
"00367596" "" "" "" "1" "" "01695" "{PMID:Holtan 2019:31429209}" "" "" "?" "Norway" "" "0" "" "" "" "Unknown 693"
"00367597" "" "" "" "1" "" "01695" "{PMID:Holtan 2019:31429209}" "" "" "?" "Norway" "" "0" "" "" "" "Unknown 694"
"00367598" "" "" "" "1" "" "01695" "{PMID:Holtan 2019:31429209}" "" "" "?" "Norway" "" "0" "" "" "" "Unknown 695"
"00367599" "" "" "" "1" "" "01695" "{PMID:Holtan 2019:31429209}" "" "" "?" "Norway" "" "0" "" "" "" "Unknown 696"
"00367600" "" "" "" "1" "" "01695" "{PMID:Holtan 2019:31429209}" "" "" "?" "Norway" "" "0" "" "" "" "Unknown 697"
"00367601" "" "" "" "1" "" "01695" "{PMID:Holtan 2019:31429209}" "" "" "?" "Norway" "" "0" "" "" "" "Unknown 698"
"00367602" "" "" "" "1" "" "01695" "{PMID:Holtan 2019:31429209}" "" "" "?" "Norway" "" "0" "" "" "" "Unknown 699"
"00367603" "" "" "" "1" "" "01695" "{PMID:Holtan 2019:31429209}" "" "" "?" "Norway" "" "0" "" "" "" "Unknown 700"
"00367604" "" "" "" "1" "" "01695" "{PMID:Holtan 2019:31429209}" "" "" "?" "Norway" "" "0" "" "" "" "Unknown 701"
"00367605" "" "" "" "1" "" "01695" "{PMID:Holtan 2019:31429209}" "" "" "?" "Norway" "" "0" "" "" "" "Unknown 702"
"00367606" "" "" "" "1" "" "01695" "{PMID:Holtan 2019:31429209}" "" "" "?" "Norway" "" "0" "" "" "" "Unknown 703"
"00367607" "" "" "" "1" "" "01695" "{PMID:Holtan 2019:31429209}" "" "" "?" "Norway" "" "0" "" "" "" "Unknown 704"
"00367608" "" "" "" "1" "" "01695" "{PMID:Holtan 2019:31429209}" "" "" "?" "Norway" "" "0" "" "" "" "Unknown 705"
"00367609" "" "" "" "1" "" "01695" "{PMID:Holtan 2019:31429209}" "" "" "?" "Norway" "" "0" "" "" "" "Unknown 706"
"00367610" "" "" "" "1" "" "01695" "{PMID:Holtan 2019:31429209}" "" "" "?" "Norway" "" "0" "" "" "" "Unknown 707"
"00367611" "" "" "" "1" "" "01695" "{PMID:Holtan 2019:31429209}" "" "" "?" "Norway" "" "0" "" "" "" "Unknown 708"
"00367612" "" "" "" "1" "" "01695" "{PMID:Holtan 2019:31429209}" "" "" "?" "Norway" "" "0" "" "" "" "Unknown 709"
"00367613" "" "" "" "1" "" "01695" "{PMID:Holtan 2019:31429209}" "" "" "?" "Norway" "" "0" "" "" "" "Unknown 710"
"00367614" "" "" "" "1" "" "01695" "{PMID:Holtan 2019:31429209}" "" "" "?" "Norway" "" "0" "" "" "" "Unknown 711"
"00367615" "" "" "" "1" "" "01695" "{PMID:Holtan 2019:31429209}" "" "" "?" "Norway" "" "0" "" "" "" "Unknown 712"
"00367616" "" "" "" "1" "" "01695" "{PMID:Holtan 2019:31429209}" "" "" "?" "Norway" "" "0" "" "" "" "Unknown 713"
"00367617" "" "" "" "1" "" "01695" "{PMID:Holtan 2019:31429209}" "" "" "?" "Norway" "" "0" "" "" "" "Unknown 714"
"00367618" "" "" "" "1" "" "01695" "{PMID:Holtan 2019:31429209}" "" "" "?" "Norway" "" "0" "" "" "" "Unknown 715"
"00367619" "" "" "" "1" "" "01695" "{PMID:Holtan 2019:31429209}" "" "" "?" "Norway" "" "0" "" "" "" "Unknown 716"
"00367620" "" "" "" "1" "" "01695" "{PMID:Holtan 2019:31429209}" "" "" "?" "Norway" "" "0" "" "" "" "Unknown 717"
"00367621" "" "" "" "1" "" "01695" "{PMID:Holtan 2019:31429209}" "" "" "?" "Norway" "" "0" "" "" "" "Unknown 718"
"00367622" "" "" "" "1" "" "01695" "{PMID:Holtan 2019:31429209}" "" "" "?" "Norway" "" "0" "" "" "" "Unknown 719"
"00367623" "" "" "" "1" "" "01695" "{PMID:Holtan 2019:31429209}" "" "" "?" "Norway" "" "0" "" "" "" "Unknown 720"
"00367624" "" "" "" "1" "" "01695" "{PMID:Holtan 2019:31429209}" "" "" "?" "Norway" "" "0" "" "" "" "Unknown 721"
"00367625" "" "" "" "1" "" "01695" "{PMID:Holtan 2019:31429209}" "" "" "?" "Norway" "" "0" "" "" "" "Unknown 722"
"00367626" "" "" "" "1" "" "01695" "{PMID:Holtan 2019:31429209}" "" "" "?" "Norway" "" "0" "" "" "" "Unknown 723"
"00367627" "" "" "" "1" "" "01695" "{PMID:Holtan 2019:31429209}" "" "" "?" "Norway" "" "0" "" "" "" "Unknown 724"
"00367628" "" "" "" "1" "" "01695" "{PMID:Holtan 2019:31429209}" "" "" "?" "Norway" "" "0" "" "" "" "Unknown 725"
"00367629" "" "" "" "1" "" "01695" "{PMID:Holtan 2019:31429209}" "" "" "?" "Norway" "" "0" "" "" "" "Unknown 726"
"00367630" "" "" "" "1" "" "01695" "{PMID:Holtan 2019:31429209}" "" "" "?" "Norway" "" "0" "" "" "" "Unknown 727"
"00367631" "" "" "" "1" "" "01695" "{PMID:Holtan 2019:31429209}" "" "" "?" "Norway" "" "0" "" "" "" "Unknown 728"
"00367632" "" "" "" "1" "" "01695" "{PMID:Holtan 2019:31429209}" "" "" "?" "Norway" "" "0" "" "" "" "Unknown 729"
"00367633" "" "" "" "1" "" "01695" "{PMID:Holtan 2019:31429209}" "" "" "?" "Norway" "" "0" "" "" "" "Unknown 730"
"00367634" "" "" "" "1" "" "01695" "{PMID:Holtan 2019:31429209}" "" "" "?" "Norway" "" "0" "" "" "" "Unknown 731"
"00367635" "" "" "" "1" "" "01695" "{PMID:Holtan 2019:31429209}" "" "" "?" "Norway" "" "0" "" "" "" "Unknown 732"
"00367636" "" "" "" "1" "" "01695" "{PMID:Holtan 2019:31429209}" "" "" "?" "Norway" "" "0" "" "" "" "Unknown 733"
"00367637" "" "" "" "1" "" "01695" "{PMID:Holtan 2019:31429209}" "" "" "?" "Norway" "" "0" "" "" "" "Unknown 734"
"00367638" "" "" "" "1" "" "01695" "{PMID:Holtan 2019:31429209}" "" "" "?" "Norway" "" "0" "" "" "" "Unknown 735"
"00367639" "" "" "" "1" "" "01695" "{PMID:Holtan 2019:31429209}" "" "" "?" "Norway" "" "0" "" "" "" "Unknown 736"
"00367640" "" "" "" "1" "" "01695" "{PMID:Holtan 2019:31429209}" "" "" "?" "Norway" "" "0" "" "" "" "Unknown 737"
"00367641" "" "" "" "1" "" "01695" "{PMID:Holtan 2019:31429209}" "" "" "?" "Norway" "" "0" "" "" "" "Unknown 738"
"00367642" "" "" "" "1" "" "01695" "{PMID:Holtan 2019:31429209}" "" "" "?" "Norway" "" "0" "" "" "" "Unknown 739"
"00367643" "" "" "" "1" "" "01695" "{PMID:Holtan 2019:31429209}" "" "" "?" "Norway" "" "0" "" "" "" "Unknown 740"
"00367644" "" "" "" "1" "" "01695" "{PMID:Holtan 2019:31429209}" "" "" "?" "Norway" "" "0" "" "" "" "Unknown 741"
"00367645" "" "" "" "1" "" "01695" "{PMID:Holtan 2019:31429209}" "" "" "?" "Norway" "" "0" "" "" "" "Unknown 742"
"00367646" "" "" "" "1" "" "01695" "{PMID:Holtan 2019:31429209}" "" "" "?" "Norway" "" "0" "" "" "" "Unknown 743"
"00367647" "" "" "" "1" "" "01695" "{PMID:Holtan 2019:31429209}" "" "" "?" "Norway" "" "0" "" "" "" "Unknown 744"
"00367648" "" "" "" "1" "" "01695" "{PMID:Holtan 2019:31429209}" "" "" "?" "Norway" "" "0" "" "" "" "Unknown 745"
"00367649" "" "" "" "1" "" "01695" "{PMID:Holtan 2019:31429209}" "" "" "?" "Norway" "" "0" "" "" "" "Unknown 746"
"00367650" "" "" "" "1" "" "01695" "{PMID:Holtan 2019:31429209}" "" "" "?" "Norway" "" "0" "" "" "" "Unknown 747"
"00367651" "" "" "" "1" "" "01695" "{PMID:Holtan 2019:31429209}" "" "" "?" "Norway" "" "0" "" "" "" "Unknown 748"
"00367652" "" "" "" "1" "" "01695" "{PMID:Holtan 2019:31429209}" "" "" "?" "Norway" "" "0" "" "" "" "Unknown 749"
"00367653" "" "" "" "1" "" "01695" "{PMID:Holtan 2019:31429209}" "" "" "?" "Norway" "" "0" "" "" "" "Unknown 750"
"00367654" "" "" "" "1" "" "01695" "{PMID:Holtan 2019:31429209}" "" "" "?" "Norway" "" "0" "" "" "" "Unknown 751"
"00367655" "" "" "" "1" "" "01695" "{PMID:Holtan 2019:31429209}" "" "" "?" "Norway" "" "0" "" "" "" "Unknown 752"
"00367656" "" "" "" "1" "" "01695" "{PMID:Holtan 2019:31429209}" "" "" "?" "Norway" "" "0" "" "" "" "Unknown 753"
"00367657" "" "" "" "1" "" "01695" "{PMID:Holtan 2019:31429209}" "" "" "?" "Norway" "" "0" "" "" "" "Unknown 754"
"00367658" "" "" "" "1" "" "01695" "{PMID:Holtan 2019:31429209}" "" "" "?" "Norway" "" "0" "" "" "" "Unknown 755"
"00367659" "" "" "" "1" "" "01695" "{PMID:Holtan 2019:31429209}" "" "" "?" "Norway" "" "0" "" "" "" "Unknown 756"
"00367660" "" "" "" "1" "" "01695" "{PMID:Holtan 2019:31429209}" "" "" "?" "Norway" "" "0" "" "" "" "Unknown 757"
"00367661" "" "" "" "1" "" "01695" "{PMID:Holtan 2019:31429209}" "" "" "?" "Norway" "" "0" "" "" "" "Unknown 758"
"00367662" "" "" "" "1" "" "01695" "{PMID:Holtan 2019:31429209}" "" "" "?" "Norway" "" "0" "" "" "" "Unknown 759"
"00367663" "" "" "" "1" "" "01695" "{PMID:Holtan 2019:31429209}" "" "" "?" "Norway" "" "0" "" "" "" "Unknown 760"
"00367664" "" "" "" "1" "" "01695" "{PMID:Holtan 2019:31429209}" "" "" "?" "Norway" "" "0" "" "" "" "Unknown 761"
"00367665" "" "" "" "1" "" "01695" "{PMID:Holtan 2019:31429209}" "" "" "?" "Norway" "" "0" "" "" "" "Unknown 762"
"00367666" "" "" "" "1" "" "01695" "{PMID:Holtan 2019:31429209}" "" "" "?" "Norway" "" "0" "" "" "" "Unknown 763"
"00367667" "" "" "" "1" "" "01695" "{PMID:Holtan 2019:31429209}" "" "" "?" "Norway" "" "0" "" "" "" "Unknown 764"
"00367668" "" "" "" "1" "" "01695" "{PMID:Holtan 2019:31429209}" "" "" "?" "Norway" "" "0" "" "" "" "Unknown 765"
"00367669" "" "" "" "1" "" "01695" "{PMID:Holtan 2019:31429209}" "" "" "?" "Norway" "" "0" "" "" "" "Unknown 766"
"00367670" "" "" "" "1" "" "01695" "{PMID:Holtan 2019:31429209}" "" "" "?" "Norway" "" "0" "" "" "" "Unknown 767"
"00367671" "" "" "" "1" "" "01695" "{PMID:Holtan 2019:31429209}" "" "" "?" "Norway" "" "0" "" "" "" "Unknown 768"
"00367672" "" "" "" "1" "" "01695" "{PMID:Holtan 2019:31429209}" "" "" "?" "Norway" "" "0" "" "" "" "Unknown 769"
"00367673" "" "" "" "1" "" "01695" "{PMID:Holtan 2019:31429209}" "" "" "?" "Norway" "" "0" "" "" "" "Unknown 770"
"00367674" "" "" "" "1" "" "01695" "{PMID:Holtan 2019:31429209}" "" "" "?" "Norway" "" "0" "" "" "" "Unknown 771"
"00367675" "" "" "" "1" "" "01695" "{PMID:Holtan 2019:31429209}" "" "" "?" "Norway" "" "0" "" "" "" "Unknown 772"
"00367676" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 773"
"00367677" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 774"
"00367678" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 775"
"00367679" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 776"
"00367680" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 777"
"00367681" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 778"
"00367682" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 779"
"00367683" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 780"
"00367684" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 781"
"00367685" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 782"
"00367686" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 783"
"00367687" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 784"
"00367688" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 785"
"00367689" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 786"
"00367690" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 787"
"00367691" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 788"
"00367692" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 789"
"00367693" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 790"
"00367694" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 791"
"00367695" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 792"
"00367696" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 793"
"00367697" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 794"
"00367698" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 795"
"00367699" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 796"
"00367700" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 797"
"00367701" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 798"
"00367702" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 799"
"00367703" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 800"
"00367704" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 801"
"00367705" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 802"
"00367706" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 803"
"00367707" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 804"
"00367708" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 805"
"00367709" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 806"
"00367710" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 807"
"00367711" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 808"
"00367712" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 809"
"00367713" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 810"
"00367714" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 811"
"00367715" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 812"
"00367716" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 813"
"00367717" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 814"
"00367718" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 815"
"00367719" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 816"
"00367720" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 817"
"00367721" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 818"
"00367722" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 819"
"00367723" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 820"
"00367724" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 821"
"00367725" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 822"
"00367726" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 823"
"00367727" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 824"
"00367728" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 825"
"00367729" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 826"
"00367730" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 827"
"00367731" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 828"
"00367732" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 829"
"00367733" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 830"
"00367734" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 831"
"00367735" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 832"
"00367736" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 833"
"00367737" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 834"
"00367738" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 835"
"00367739" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 836"
"00367740" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 837"
"00367741" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 838"
"00367742" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 839"
"00367743" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 840"
"00367744" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 841"
"00367745" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 842"
"00367746" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 843"
"00367747" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 844"
"00367748" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 845"
"00367749" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 846"
"00367750" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 847"
"00367751" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 848"
"00367752" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 849"
"00367753" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 850"
"00367754" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 851"
"00367755" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 852"
"00367756" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 853"
"00367757" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 854"
"00367758" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 855"
"00367759" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 856"
"00367760" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 857"
"00367761" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 858"
"00367762" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 859"
"00367763" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 860"
"00367764" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 861"
"00367765" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 862"
"00367766" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 863"
"00367767" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 864"
"00367768" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 865"
"00367769" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 866"
"00367770" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 867"
"00367771" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 868"
"00367772" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 869"
"00367773" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 870"
"00367774" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 871"
"00367775" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 872"
"00367776" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 873"
"00367777" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 874"
"00367778" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 875"
"00367779" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 876"
"00367780" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 877"
"00367781" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 878"
"00367782" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 879"
"00367783" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 880"
"00367784" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 881"
"00367785" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 882"
"00367786" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 883"
"00367787" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 884"
"00367788" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 885"
"00367789" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 886"
"00367790" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 887"
"00367791" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 888"
"00367792" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 889"
"00367793" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 890"
"00367794" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 891"
"00367795" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 892"
"00367796" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 893"
"00367797" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 894"
"00367798" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 895"
"00367799" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 896"
"00367800" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 897"
"00367801" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 898"
"00367802" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 899"
"00367803" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 900"
"00367804" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 901"
"00367805" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 902"
"00367806" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 903"
"00367807" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 904"
"00367808" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 905"
"00367809" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 906"
"00367810" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 907"
"00367811" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 908"
"00367812" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 909"
"00367813" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 910"
"00367814" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 911"
"00367815" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 912"
"00367816" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 913"
"00367817" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 914"
"00367818" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 915"
"00367819" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 916"
"00367820" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 917"
"00367821" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 918"
"00367822" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 919"
"00367823" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 920"
"00367824" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 921"
"00367825" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 922"
"00367826" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 923"
"00367827" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 924"
"00367828" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 925"
"00367829" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 926"
"00367830" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 927"
"00367831" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 928"
"00367832" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 929"
"00367833" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 930"
"00367834" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 931"
"00367835" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 932"
"00367836" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 933"
"00367837" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 934"
"00367838" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 935"
"00367839" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 936"
"00367840" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 937"
"00367841" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 938"
"00367842" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 939"
"00367843" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 940"
"00367844" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 941"
"00367845" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 942"
"00367846" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 943"
"00367847" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 944"
"00367848" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 945"
"00367849" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 946"
"00367850" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 947"
"00367851" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 948"
"00367852" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 949"
"00367853" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 950"
"00367854" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 951"
"00367855" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 952"
"00367856" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 953"
"00367857" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 954"
"00367858" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 955"
"00367859" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 956"
"00367860" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 957"
"00367861" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 958"
"00367862" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 959"
"00367863" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 960"
"00367864" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 961"
"00367865" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 962"
"00367866" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 963"
"00367867" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 964"
"00367868" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 965"
"00367869" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 966"
"00367870" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 967"
"00367871" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 968"
"00367872" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 969"
"00367873" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 970"
"00367874" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 971"
"00367875" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 972"
"00367876" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 973"
"00367877" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 974"
"00367878" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 975"
"00367879" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 976"
"00367880" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 977"
"00367881" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 978"
"00367882" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 979"
"00367883" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 980"
"00367884" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 981"
"00367885" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 982"
"00367886" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 983"
"00367887" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 984"
"00367888" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 985"
"00367889" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 986"
"00367890" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 987"
"00367891" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 988"
"00367892" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 989"
"00367893" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 990"
"00367894" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 991"
"00367895" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 992"
"00367896" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 993"
"00367897" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 994"
"00367898" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 995"
"00367899" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 996"
"00367900" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 997"
"00367901" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 998"
"00367902" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 999"
"00367903" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 1000"
"00367904" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 1001"
"00367905" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 1002"
"00367906" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 1003"
"00367907" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 1004"
"00367908" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 1005"
"00367909" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 1006"
"00367910" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 1007"
"00367911" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 1008"
"00367912" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 1009"
"00367913" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 1010"
"00367914" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 1011"
"00367915" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 1012"
"00367916" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 1013"
"00367917" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 1014"
"00367918" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 1015"
"00367919" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 1016"
"00367920" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 1017"
"00367921" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 1018"
"00367922" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 1019"
"00367923" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 1020"
"00367924" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 1021"
"00367925" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 1022"
"00367926" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 1023"
"00367927" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 1024"
"00367928" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 1025"
"00367929" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 1026"
"00367930" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 1027"
"00367931" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 1028"
"00367932" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 1029"
"00367933" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 1030"
"00367934" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 1031"
"00367935" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 1032"
"00367936" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 1033"
"00367937" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 1034"
"00367938" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 1035"
"00367939" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 1036"
"00367940" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 1037"
"00367941" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 1038"
"00367942" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 1039"
"00367943" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 1040"
"00367944" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 1041"
"00367945" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 1042"
"00367946" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 1043"
"00367947" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 1044"
"00367948" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 1045"
"00367949" "" "" "" "1" "" "01695" "{PMID:Sharon 2019:31456290}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 1046"
"00367950" "" "" "" "1" "" "01695" "{PMID:Valkenburg 2019:31522899}" "Sibling of P2 and P3" "F" "?" "Netherlands" "" "0" "" "" "" "P1"
"00367951" "" "" "" "1" "" "01695" "{PMID:Valkenburg 2019:31522899}" "Sibling of P11" "F" "?" "Netherlands" "" "0" "" "" "" "P10"
"00367952" "" "" "" "1" "" "01695" "{PMID:Valkenburg 2019:31522899}" "Sibling of P10" "F" "?" "Netherlands" "" "0" "" "" "" "P11"
"00367953" "" "" "" "1" "" "01695" "{PMID:Valkenburg 2019:31522899}" "Sibling of P13" "F" "?" "Netherlands" "" "0" "" "" "" "P12"
"00367954" "" "" "" "1" "" "01695" "{PMID:Valkenburg 2019:31522899}" "Sibling of P12" "M" "?" "Netherlands" "" "0" "" "" "" "P13"
"00367955" "" "" "" "1" "" "01695" "{PMID:Valkenburg 2019:31522899}" "Sibling of P15" "M" "?" "Netherlands" "" "0" "" "" "" "P14"
"00367956" "" "" "" "1" "" "01695" "{PMID:Valkenburg 2019:31522899}" "Sibling of P14" "F" "?" "Netherlands" "" "0" "" "" "" "P15"
"00367957" "" "" "" "1" "" "01695" "{PMID:Valkenburg 2019:31522899}" "Sibling of P17" "M" "?" "Netherlands" "" "0" "" "" "" "P16"
"00367958" "" "" "" "1" "" "01695" "{PMID:Valkenburg 2019:31522899}" "Sibling of P16" "F" "?" "Netherlands" "" "0" "" "" "" "P17"
"00367959" "" "" "" "1" "" "01695" "{PMID:Valkenburg 2019:31522899}" "Sibling of P19" "M" "?" "Netherlands" "" "0" "" "" "" "P18"
"00367960" "" "" "" "1" "" "01695" "{PMID:Valkenburg 2019:31522899}" "Sibling of P18" "M" "?" "Netherlands" "" "0" "" "" "" "P19"
"00367961" "" "" "" "1" "" "01695" "{PMID:Valkenburg 2019:31522899}" "Sibling of P1 and P3" "M" "?" "Netherlands" "" "0" "" "" "" "P2"
"00367962" "" "" "" "1" "" "01695" "{PMID:Valkenburg 2019:31522899}" "Sibling of P21" "M" "?" "Netherlands" "" "0" "" "" "" "P20"
"00367963" "" "" "" "1" "" "01695" "{PMID:Valkenburg 2019:31522899}" "Sibling of P20" "F" "?" "Netherlands" "" "0" "" "" "" "P21"
"00367964" "" "" "" "1" "" "01695" "{PMID:Valkenburg 2019:31522899}" "Sibling of P23" "M" "?" "Netherlands" "" "0" "" "" "" "P22"
"00367965" "" "" "" "1" "" "01695" "{PMID:Valkenburg 2019:31522899}" "Sibling of P24" "F" "?" "Netherlands" "" "0" "" "" "" "P23"
"00367966" "" "" "" "1" "" "01695" "{PMID:Valkenburg 2019:31522899}{PMID:Lambertus 2017:28355279}" "Sibling of P27" "M" "?" "Netherlands" "" "0" "" "" "" "P26; Radboudumc 12"
"00367967" "" "" "" "1" "" "01695" "{PMID:Valkenburg 2019:31522899}{PMID:Lambertus 2017:28355279}" "Sibling of P28" "F" "?" "Netherlands" "" "0" "" "" "" "P27; Radboudumc 13"
"00367968" "" "" "" "1" "" "01695" "{PMID:Valkenburg 2019:31522899}" "Sibling of P29, P30 and P31" "F" "?" "Netherlands" "" "0" "" "" "" "P28"
"00367969" "" "" "" "1" "" "01695" "{PMID:Valkenburg 2019:31522899}" "Sibling of P28, P30 and P31" "M" "?" "Netherlands" "" "0" "" "" "" "P29"
"00367970" "" "" "" "1" "" "01695" "{PMID:Valkenburg 2019:31522899}" "Sibling of P1 and P2" "F" "?" "Netherlands" "" "0" "" "" "" "P3"
"00367971" "" "" "" "1" "" "01695" "{PMID:Valkenburg 2019:31522899}" "Sibling of P28, P29 and P31" "F" "?" "Netherlands" "" "0" "" "" "" "P30"
"00367972" "" "" "" "1" "" "01695" "{PMID:Valkenburg 2019:31522899}" "Sibling of P28, P29 and P30" "F" "?" "Netherlands" "" "0" "" "" "" "P31"
"00367973" "" "" "" "1" "" "01695" "{PMID:Valkenburg 2019:31522899}" "Sibling of P33" "M" "?" "Netherlands" "" "0" "" "" "" "P32"
"00367974" "" "" "" "1" "" "01695" "{PMID:Valkenburg 2019:31522899}" "Sibling of P34" "M" "?" "Netherlands" "" "0" "" "" "" "P33"
"00367975" "" "" "" "1" "" "01695" "{PMID:Valkenburg 2019:31522899}" "Sibling of P37" "M" "?" "Netherlands" "" "0" "" "" "" "P36"
"00367976" "" "" "" "1" "" "01695" "{PMID:Valkenburg 2019:31522899}" "Sibling of P36" "F" "?" "Netherlands" "" "0" "" "" "" "P37"
"00367977" "" "" "" "1" "" "01695" "{PMID:Valkenburg 2019:31522899}" "Sibling of P5" "F" "?" "Netherlands" "" "0" "" "" "" "P4"
"00367978" "" "" "" "1" "" "01695" "{PMID:Valkenburg 2019:31522899}" "Sibling of P4" "M" "?" "Netherlands" "" "0" "" "" "" "P5"
"00367979" "" "" "" "1" "" "01695" "{PMID:Valkenburg 2019:31522899}" "Sibling of P7, P8 and P9" "F" "?" "Netherlands" "" "0" "" "" "" "P6"
"00367980" "" "" "" "1" "" "01695" "{PMID:Valkenburg 2019:31522899}" "Sibling of P6, P8 and P9" "F" "?" "Netherlands" "" "0" "" "" "" "P7"
"00367981" "" "" "" "1" "" "01695" "{PMID:Valkenburg 2019:31522899}" "Sibling of P6, P7 and P9" "F" "?" "Netherlands" "" "0" "" "" "" "P8"
"00367982" "" "" "" "1" "" "01695" "{PMID:Valkenburg 2019:31522899}" "Sibling of P6, P7 and P8" "M" "?" "Netherlands" "" "0" "" "" "" "P9"
"00367983" "" "" "" "1" "" "01695" "{PMID:Hu 2019:31543898}" "" "M" "?" "China" "" "0" "" "" "China" "P1"
"00367984" "" "" "" "1" "" "01695" "{PMID:Hu 2019:31543898}" "" "F" "?" "China" "" "0" "" "" "China" "P10"
"00367985" "" "" "" "1" "" "01695" "{PMID:Hu 2019:31543898}" "" "F" "?" "China" "" "0" "" "" "China" "P11"
"00367986" "" "" "" "1" "" "01695" "{PMID:Hu 2019:31543898}" "" "M" "?" "China" "" "0" "" "" "China" "P12"
"00367987" "" "" "" "1" "" "01695" "{PMID:Hu 2019:31543898}" "" "F" "?" "China" "" "0" "" "" "China" "P13"
"00367988" "" "" "" "1" "" "01695" "{PMID:Hu 2019:31543898}" "" "M" "?" "China" "" "0" "" "" "China" "P14"
"00367989" "" "" "" "1" "" "01695" "{PMID:Hu 2019:31543898}" "" "M" "?" "China" "" "0" "" "" "China" "P15"
"00367990" "" "" "" "1" "" "01695" "{PMID:Hu 2019:31543898}" "likely related to P17" "M" "?" "China" "" "0" "" "" "China" "P16"
"00367991" "" "" "" "1" "" "01695" "{PMID:Hu 2019:31543898}" "likely related to P16" "M" "?" "China" "" "0" "" "" "China" "P17"
"00367992" "" "" "" "1" "" "01695" "{PMID:Hu 2019:31543898}" "" "F" "?" "China" "" "0" "" "" "China" "P18"
"00367993" "" "" "" "1" "" "01695" "{PMID:Hu 2019:31543898}" "" "F" "?" "China" "" "0" "" "" "China" "P2"
"00367994" "" "" "" "1" "" "01695" "{PMID:Hu 2019:31543898}" "" "F" "?" "China" "" "0" "" "" "China" "P20"
"00367995" "" "" "" "1" "" "01695" "{PMID:Hu 2019:31543898}" "" "F" "?" "China" "" "0" "" "" "China" "P21"
"00367996" "" "" "" "1" "" "01695" "{PMID:Hu 2019:31543898}" "" "F" "?" "China" "" "0" "" "" "China" "P22"
"00367997" "" "" "" "1" "" "01695" "{PMID:Hu 2019:31543898}" "" "M" "?" "China" "" "0" "" "" "China" "P23"
"00367998" "" "" "" "1" "" "01695" "{PMID:Hu 2019:31543898}" "Likely sibling of P25" "M" "?" "China" "" "0" "" "" "China" "P24"
"00367999" "" "" "" "1" "" "01695" "{PMID:Hu 2019:31543898}" "Likely sibling of P24" "F" "?" "China" "" "0" "" "" "China" "P25"
"00368000" "" "" "" "1" "" "01695" "{PMID:Hu 2019:31543898}" "Likely sibling of P27" "F" "?" "China" "" "0" "" "" "China" "P26"
"00368001" "" "" "" "1" "" "01695" "{PMID:Hu 2019:31543898}" "Likely sibling of P26" "F" "?" "China" "" "0" "" "" "China" "P27"
"00368002" "" "" "" "1" "" "01695" "{PMID:Hu 2019:31543898}" "" "M" "?" "China" "" "0" "" "" "China" "P28"
"00368003" "" "" "" "1" "" "01695" "{PMID:Hu 2019:31543898}" "" "M" "?" "China" "" "0" "" "" "China" "P29"
"00368004" "" "" "" "1" "" "01695" "{PMID:Hu 2019:31543898}" "" "M" "?" "China" "" "0" "" "" "China" "P3"
"00368005" "" "" "" "1" "" "01695" "{PMID:Hu 2019:31543898}" "" "F" "?" "China" "" "0" "" "" "China" "P30"
"00368006" "" "" "" "1" "" "01695" "{PMID:Hu 2019:31543898}" "" "F" "?" "China" "" "0" "" "" "China" "P31"
"00368007" "" "" "" "1" "" "01695" "{PMID:Hu 2019:31543898}" "" "F" "?" "China" "" "0" "" "" "China" "P32"
"00368008" "" "" "" "1" "" "01695" "{PMID:Hu 2019:31543898}" "" "M" "?" "China" "" "0" "" "" "China" "P33"
"00368009" "" "" "" "1" "" "01695" "{PMID:Hu 2019:31543898}" "" "M" "?" "China" "" "0" "" "" "China" "P34"
"00368010" "" "" "" "1" "" "01695" "{PMID:Hu 2019:31543898}" "" "M" "?" "China" "" "0" "" "" "China" "P35"
"00368011" "" "" "" "1" "" "01695" "{PMID:Hu 2019:31543898}" "" "F" "?" "China" "" "0" "" "" "China" "P36"
"00368012" "" "" "" "1" "" "01695" "{PMID:Hu 2019:31543898}" "" "F" "?" "China" "" "0" "" "" "China" "P37"
"00368013" "" "" "" "1" "" "01695" "{PMID:Hu 2019:31543898}" "" "M" "?" "China" "" "0" "" "" "China" "P38"
"00368014" "" "" "" "1" "" "01695" "{PMID:Hu 2019:31543898}" "" "M" "?" "China" "" "0" "" "" "China" "P39"
"00368015" "" "" "" "1" "" "01695" "{PMID:Hu 2019:31543898}" "" "F" "?" "China" "" "0" "" "" "China" "P4"
"00368016" "" "" "" "1" "" "01695" "{PMID:Hu 2019:31543898}" "" "M" "?" "China" "" "0" "" "" "China" "P40"
"00368017" "" "" "" "1" "" "01695" "{PMID:Hu 2019:31543898}" "" "F" "?" "China" "" "0" "" "" "China" "P41"
"00368018" "" "" "" "1" "" "01695" "{PMID:Hu 2019:31543898}" "" "M" "?" "China" "" "0" "" "" "China" "P42"
"00368019" "" "" "" "1" "" "01695" "{PMID:Hu 2019:31543898}" "" "F" "?" "China" "" "0" "" "" "China" "P43"
"00368020" "" "" "" "1" "" "01695" "{PMID:Hu 2019:31543898}" "" "M" "?" "China" "" "0" "" "" "China" "P44"
"00368021" "" "" "" "1" "" "01695" "{PMID:Hu 2019:31543898}" "" "M" "?" "China" "" "0" "" "" "China" "P45"
"00368022" "" "" "" "1" "" "01695" "{PMID:Hu 2019:31543898}" "" "F" "?" "China" "" "0" "" "" "China" "P46"
"00368023" "" "" "" "1" "" "01695" "{PMID:Hu 2019:31543898}" "" "M" "?" "China" "" "0" "" "" "China" "P47"
"00368024" "" "" "" "1" "" "01695" "{PMID:Hu 2019:31543898}" "" "M" "?" "China" "" "0" "" "" "China" "P48"
"00368025" "" "" "" "1" "" "01695" "{PMID:Hu 2019:31543898}" "" "F" "?" "China" "" "0" "" "" "China" "P49"
"00368026" "" "" "" "1" "" "01695" "{PMID:Hu 2019:31543898}" "" "M" "?" "China" "" "0" "" "" "China" "P5"
"00368027" "" "" "" "1" "" "01695" "{PMID:Hu 2019:31543898}" "" "F" "?" "China" "" "0" "" "" "China" "P50"
"00368028" "" "" "" "1" "" "01695" "{PMID:Hu 2019:31543898}" "" "M" "?" "China" "" "0" "" "" "China" "P51"
"00368029" "" "" "" "1" "" "01695" "{PMID:Hu 2019:31543898}" "" "M" "?" "China" "" "0" "" "" "China" "P52"
"00368030" "" "" "" "1" "" "01695" "{PMID:Hu 2019:31543898}" "" "F" "?" "China" "" "0" "" "" "China" "P53"
"00368031" "" "" "" "1" "" "01695" "{PMID:Hu 2019:31543898}" "" "F" "?" "China" "" "0" "" "" "China" "P54"
"00368032" "" "" "" "1" "" "01695" "{PMID:Hu 2019:31543898}" "" "F" "?" "China" "" "0" "" "" "China" "P55"
"00368033" "" "" "" "1" "" "01695" "{PMID:Hu 2019:31543898}" "" "M" "?" "China" "" "0" "" "" "China" "P56"
"00368034" "" "" "" "1" "" "01695" "{PMID:Hu 2019:31543898}" "" "F" "?" "China" "" "0" "" "" "China" "P57"
"00368035" "" "" "" "1" "" "01695" "{PMID:Hu 2019:31543898}" "" "F" "?" "China" "" "0" "" "" "China" "P58"
"00368036" "" "" "" "1" "" "01695" "{PMID:Hu 2019:31543898}" "" "M" "?" "China" "" "0" "" "" "China" "P59"
"00368037" "" "" "" "1" "" "01695" "{PMID:Hu 2019:31543898}" "" "M" "?" "China" "" "0" "" "" "China" "P6"
"00368038" "" "" "" "1" "" "01695" "{PMID:Hu 2019:31543898}" "" "F" "?" "China" "" "0" "" "" "China" "P60"
"00368039" "" "" "" "1" "" "01695" "{PMID:Hu 2019:31543898}" "" "M" "?" "China" "" "0" "" "" "China" "P61"
"00368040" "" "" "" "1" "" "01695" "{PMID:Hu 2019:31543898}" "" "F" "?" "China" "" "0" "" "" "China" "P62"
"00368041" "" "" "" "1" "" "01695" "{PMID:Hu 2019:31543898}" "" "F" "?" "China" "" "0" "" "" "China" "P63"
"00368042" "" "" "" "1" "" "01695" "{PMID:Hu 2019:31543898}" "" "F" "?" "China" "" "0" "" "" "China" "P64"
"00368043" "" "" "" "1" "" "01695" "{PMID:Hu 2019:31543898}" "" "F" "?" "China" "" "0" "" "" "China" "P65"
"00368044" "" "" "" "1" "" "01695" "{PMID:Hu 2019:31543898}" "" "M" "?" "China" "" "0" "" "" "China" "P66"
"00368045" "" "" "" "1" "" "01695" "{PMID:Hu 2019:31543898}" "" "M" "?" "China" "" "0" "" "" "China" "P67"
"00368046" "" "" "" "1" "" "01695" "{PMID:Hu 2019:31543898}" "" "F" "?" "China" "" "0" "" "" "China" "P68"
"00368047" "" "" "" "1" "" "01695" "{PMID:Hu 2019:31543898}" "" "F" "?" "China" "" "0" "" "" "China" "P69"
"00368048" "" "" "" "1" "" "01695" "{PMID:Hu 2019:31543898}" "" "M" "?" "China" "" "0" "" "" "China" "P7"
"00368049" "" "" "" "1" "" "01695" "{PMID:Hu 2019:31543898}" "" "M" "?" "China" "" "0" "" "" "China" "P70"
"00368050" "" "" "" "1" "" "01695" "{PMID:Hu 2019:31543898}" "" "M" "?" "China" "" "0" "" "" "China" "P71"
"00368051" "" "" "" "1" "" "01695" "{PMID:Hu 2019:31543898}" "" "F" "?" "China" "" "0" "" "" "China" "P72"
"00368052" "" "" "" "1" "" "01695" "{PMID:Hu 2019:31543898}" "" "F" "?" "China" "" "0" "" "" "China" "P73"
"00368053" "" "" "" "1" "" "01695" "{PMID:Hu 2019:31543898}" "" "F" "?" "China" "" "0" "" "" "China" "P74"
"00368054" "" "" "" "1" "" "01695" "{PMID:Hu 2019:31543898}" "" "F" "?" "China" "" "0" "" "" "China" "P75"
"00368055" "" "" "" "1" "" "01695" "{PMID:Hu 2019:31543898}" "" "M" "?" "China" "" "0" "" "" "China" "P76"
"00368056" "" "" "" "1" "" "01695" "{PMID:Hu 2019:31543898}" "" "M" "?" "China" "" "0" "" "" "China" "P77"
"00368057" "" "" "" "1" "" "01695" "{PMID:Hu 2019:31543898}" "" "M" "?" "China" "" "0" "" "" "China" "P78"
"00368058" "" "" "" "1" "" "01695" "{PMID:Hu 2019:31543898}" "" "M" "?" "China" "" "0" "" "" "China" "P79"
"00368059" "" "" "" "1" "" "01695" "{PMID:Hu 2019:31543898}" "" "M" "?" "China" "" "0" "" "" "China" "P8"
"00368060" "" "" "" "1" "" "01695" "{PMID:Hu 2019:31543898}" "" "F" "?" "China" "" "0" "" "" "China" "P80"
"00368061" "" "" "" "1" "" "01695" "{PMID:Hu 2019:31543898}" "" "F" "?" "China" "" "0" "" "" "China" "P81"
"00368062" "" "" "" "1" "" "01695" "{PMID:Hu 2019:31543898}" "" "F" "?" "China" "" "0" "" "" "China" "P82"
"00368063" "" "" "" "1" "" "01695" "{PMID:Hu 2019:31543898}" "" "F" "?" "China" "" "0" "" "" "China" "P83"
"00368064" "" "" "" "1" "" "01695" "{PMID:Hu 2019:31543898}" "" "F" "?" "China" "" "0" "" "" "China" "P84"
"00368065" "" "" "" "1" "" "01695" "{PMID:Hu 2019:31543898}" "" "M" "?" "China" "" "0" "" "" "China" "P85"
"00368066" "" "" "" "1" "" "01695" "{PMID:Hu 2019:31543898}" "" "M" "?" "China" "" "0" "" "" "China" "P86"
"00368067" "" "" "" "1" "" "01695" "{PMID:Hu 2019:31543898}" "" "" "?" "China" "" "0" "" "" "China" "P87"
"00368068" "" "" "" "1" "" "01695" "{PMID:Hu 2019:31543898}" "" "" "?" "China" "" "0" "" "" "China" "P88"
"00368069" "" "" "" "1" "" "01695" "{PMID:Hu 2019:31543898}" "" "" "?" "China" "" "0" "" "" "China" "P89"
"00368070" "" "" "" "1" "" "01695" "{PMID:Hu 2019:31543898}" "" "F" "?" "China" "" "0" "" "" "China" "P9"
"00368071" "" "" "" "1" "" "01695" "{PMID:Hu 2019:31543898}" "" "" "?" "China" "" "0" "" "" "China" "P91"
"00368072" "" "" "" "1" "" "01695" "{PMID:Hu 2019:31543898}" "" "" "?" "China" "" "0" "" "" "China" "P92"
"00368073" "" "" "" "1" "" "01695" "{PMID:Hu 2019:31543898}" "" "" "?" "China" "" "0" "" "" "China" "Unknown 1047"
"00368074" "" "" "" "1" "" "01695" "{PMID:Hu 2019:31543898}" "" "" "?" "China" "" "0" "" "" "China" "Unknown 1048"
"00368075" "" "" "" "1" "" "01695" "{PMID:Hu 2019:31543898}" "" "" "?" "China" "" "0" "" "" "China" "Unknown 1049"
"00368076" "" "" "" "1" "" "01695" "{PMID:Hu 2019:31543898}" "" "" "?" "China" "" "0" "" "" "China" "Unknown 1050"
"00368077" "" "" "" "1" "" "01695" "{PMID:Hu 2019:31543898}" "" "" "?" "China" "" "0" "" "" "China" "Unknown 1051"
"00368078" "" "" "" "1" "" "01695" "{PMID:Hu 2019:31543898}" "" "" "?" "China" "" "0" "" "" "China" "Unknown 1052"
"00368079" "" "" "" "1" "" "01695" "{PMID:Hu 2019:31543898}" "" "" "?" "China" "" "0" "" "" "China" "Unknown 1053"
"00368080" "" "" "" "1" "" "01695" "{PMID:Hu 2019:31543898}" "" "" "?" "China" "" "0" "" "" "China" "Unknown 1054"
"00368081" "" "" "" "1" "" "01695" "{PMID:Hu 2019:31543898}" "" "" "?" "China" "" "0" "" "" "China" "Unknown 1055"
"00368082" "" "" "" "1" "" "01695" "{PMID:Hu 2019:31543898}" "" "" "?" "China" "" "0" "" "" "China" "Unknown 1056"
"00368083" "" "" "" "1" "" "01695" "{PMID:Hu 2019:31543898}" "" "" "?" "China" "" "0" "" "" "China" "Unknown 1057"
"00368084" "" "" "" "1" "" "01695" "{PMID:Hu 2019:31543898}" "" "" "?" "China" "" "0" "" "" "China" "Unknown 1058"
"00368085" "" "" "" "1" "" "01695" "{PMID:Hu 2019:31543898}" "" "" "?" "China" "" "0" "" "" "China" "Unknown 1059"
"00368086" "" "" "" "1" "" "01695" "{PMID:Hu 2019:31543898}" "" "" "?" "China" "" "0" "" "" "China" "Unknown 1060"
"00368087" "" "" "" "1" "" "01695" "{PMID:Hu 2019:31543898}" "" "" "?" "China" "" "0" "" "" "China" "Unknown 1061"
"00368088" "" "" "" "1" "" "01695" "{PMID:Hu 2019:31543898}" "" "" "?" "China" "" "0" "" "" "China" "Unknown 1062"
"00368089" "" "" "" "1" "" "01695" "{PMID:Hu 2019:31543898}" "" "" "?" "China" "" "0" "" "" "China" "Unknown 1063"
"00368090" "" "" "" "1" "" "01695" "{PMID:Hu 2019:31543898}" "" "" "?" "China" "" "0" "" "" "China" "Unknown 1064"
"00368091" "" "" "" "1" "" "01695" "{PMID:Hu 2019:31543898}" "" "" "?" "China" "" "0" "" "" "China" "Unknown 1065"
"00368092" "" "" "" "1" "" "01695" "{PMID:Hu 2019:31543898}" "" "" "?" "China" "" "0" "" "" "China" "Unknown 1066"
"00368093" "" "" "" "1" "" "01695" "{PMID:Hu 2019:31543898}" "" "" "?" "China" "" "0" "" "" "China" "Unknown 1067"
"00368094" "" "" "" "1" "" "01695" "{PMID:Hu 2019:31543898}" "" "" "?" "China" "" "0" "" "" "China" "Unknown 1068"
"00368095" "" "" "" "1" "" "01695" "{PMID:Hu 2019:31543898}" "" "" "?" "China" "" "0" "" "" "China" "Unknown 1069"
"00368096" "" "" "" "1" "" "01695" "{PMID:Hu 2019:31543898}" "" "" "?" "China" "" "0" "" "" "China" "Unknown 1070"
"00368097" "" "" "" "1" "" "01695" "{PMID:Hu 2019:31543898}" "Sibling of III:2, A mutation (p.G38D) was also found in GNAT1 with co-occuring disease phenotype" "F" "?" "Japan" "" "0" "" "" "Japan" "III:1"
"00368098" "" "" "" "1" "" "01695" "{PMID:Hu 2019:31543898}" "Sibling of III:1, A mutation (p.G38D) was also found in GNAT1 with co-occuring disease phenotype" "M" "?" "Japan" "" "0" "" "" "Japan" "III:2"
"00368099" "" "" "" "1" "" "01695" "{PMID:Piccardi 2019:31618812}" "" "M" "?" "Italy" "" "0" "" "" "" "11."
"00368100" "" "" "" "1" "" "01695" "{PMID:Piccardi 2019:31618812}" "" "F" "?" "Italy" "" "0" "" "" "" "12."
"00368101" "" "" "" "1" "" "01695" "{PMID:Piccardi 2019:31618812}" "" "F" "?" "Italy" "" "0" "" "" "" "14."
"00368102" "" "" "" "1" "" "01695" "{PMID:Piccardi 2019:31618812}" "" "F" "?" "Italy" "" "0" "" "" "" "18."
"00368103" "" "" "" "1" "" "01695" "{PMID:Piccardi 2019:31618812}" "" "F" "?" "Italy" "" "0" "" "" "" "19."
"00368104" "" "" "" "1" "" "01695" "{PMID:Piccardi 2019:31618812}" "" "F" "?" "Italy" "" "0" "" "" "" "2."
"00368105" "" "" "" "1" "" "01695" "{PMID:Piccardi 2019:31618812}" "" "M" "?" "Italy" "" "0" "" "" "" "20."
"00368106" "" "" "" "1" "" "01695" "{PMID:Piccardi 2019:31618812}" "" "M" "?" "Italy" "" "0" "" "" "" "21."
"00368107" "" "" "" "1" "" "01695" "{PMID:Piccardi 2019:31618812}" "" "M" "?" "Italy" "" "0" "" "" "" "23."
"00368108" "" "" "" "1" "" "01695" "{PMID:Piccardi 2019:31618812}" "" "M" "?" "Italy" "" "0" "" "" "" "24."
"00368109" "" "" "" "1" "" "01695" "{PMID:Piccardi 2019:31618812}" "" "M" "?" "Italy" "" "0" "" "" "" "25."
"00368110" "" "" "" "1" "" "01695" "{PMID:Piccardi 2019:31618812}" "" "M" "?" "Italy" "" "0" "" "" "" "26."
"00368111" "" "" "" "1" "" "01695" "{PMID:Piccardi 2019:31618812}" "" "F" "?" "Italy" "" "0" "" "" "" "27."
"00368112" "" "" "" "1" "" "01695" "{PMID:Piccardi 2019:31618812}" "" "M" "?" "Italy" "" "0" "" "" "" "28."
"00368113" "" "" "" "1" "" "01695" "{PMID:Piccardi 2019:31618812}" "" "F" "?" "Italy" "" "0" "" "" "" "29."
"00368114" "" "" "" "1" "" "01695" "{PMID:Piccardi 2019:31618812}" "" "M" "?" "Italy" "" "0" "" "" "" "3."
"00368115" "" "" "" "1" "" "01695" "{PMID:Piccardi 2019:31618812}" "" "M" "?" "Italy" "" "0" "" "" "" "30."
"00368116" "" "" "" "1" "" "01695" "{PMID:Piccardi 2019:31618812}" "" "M" "?" "Italy" "" "0" "" "" "" "31."
"00368117" "" "" "" "1" "" "01695" "{PMID:Piccardi 2019:31618812}" "" "M" "?" "Italy" "" "0" "" "" "" "32."
"00368118" "" "" "" "1" "" "01695" "{PMID:Piccardi 2019:31618812}" "" "M" "?" "Italy" "" "0" "" "" "" "33."
"00368119" "" "" "" "1" "" "01695" "{PMID:Piccardi 2019:31618812}" "" "M" "?" "Italy" "" "0" "" "" "" "38."
"00368120" "" "" "" "1" "" "01695" "{PMID:Piccardi 2019:31618812}" "" "M" "?" "Italy" "" "0" "" "" "" "39."
"00368121" "" "" "" "1" "" "01695" "{PMID:Piccardi 2019:31618812}" "" "F" "?" "Italy" "" "0" "" "" "" "4."
"00368122" "" "" "" "1" "" "01695" "{PMID:Piccardi 2019:31618812}" "" "F" "?" "Italy" "" "0" "" "" "" "42."
"00368123" "" "" "" "1" "" "01695" "{PMID:Piccardi 2019:31618812}" "" "M" "?" "Italy" "" "0" "" "" "" "43."
"00368124" "" "" "" "1" "" "01695" "{PMID:Piccardi 2019:31618812}" "" "M" "?" "Italy" "" "0" "" "" "" "44."
"00368125" "" "" "" "1" "" "01695" "{PMID:Piccardi 2019:31618812}" "" "F" "?" "Italy" "" "0" "" "" "" "45."
"00368126" "" "" "" "1" "" "01695" "{PMID:Piccardi 2019:31618812}" "likely sibling of patient 6" "F" "?" "Italy" "" "0" "" "" "" "5."
"00368127" "" "" "" "1" "" "01695" "{PMID:Piccardi 2019:31618812}" "likely sibling of patient 5" "M" "?" "Italy" "" "0" "" "" "" "6."
"00368128" "" "" "" "1" "" "01695" "{PMID:Piccardi 2019:31618812}" "likely sibling of patient 9" "M" "?" "Italy" "" "0" "" "" "" "8."
"00368129" "" "" "" "1" "" "01695" "{PMID:Piccardi 2019:31618812}" "likely sibling of patient 8" "M" "?" "Italy" "" "0" "" "" "" "9."
"00368130" "" "" "" "1" "" "01695" "{PMID:Dan 2019:31674661}" "" "M" "no" "China" "" "0" "" "" "Han" "4"
"00368131" "" "" "" "1" "" "01695" "{PMID:Dan 2019:31674661}" "" "M" "no" "China" "" "0" "" "" "Han" "32"
"00368132" "" "" "" "1" "" "01695" "{PMID:Dan 2019:31674661}" "" "F" "no" "China" "" "0" "" "" "Han" "43"
"00368133" "" "" "" "1" "" "01695" "{PMID:Dan 2019:31674661}" "" "M" "no" "China" "" "0" "" "" "Han" "60"
"00368134" "" "" "" "1" "" "01695" "{PMID:Dan 2019:31674661}" "" "" "no" "China" "" "0" "" "" "Han" "105"
"00368135" "" "" "" "1" "" "01695" "{PMID:Dan 2019:31674661}" "" "M" "no" "China" "" "0" "" "" "Han" "148"
"00368136" "" "" "" "1" "" "01695" "{PMID:Dan 2019:31674661}" "" "F" "no" "China" "" "0" "" "" "Han" "160"
"00368137" "" "" "" "1" "" "01695" "{PMID:Dan 2019:31674661}" "" "M" "yes" "China" "" "0" "" "" "Han" "161"
"00368138" "" "" "" "1" "" "01695" "{PMID:Dan 2019:31674661}" "" "F" "no" "China" "" "0" "" "" "Han" "163"
"00368139" "" "" "" "1" "" "01695" "{PMID:Lee 2019:31576780}" "Only one mutation identified in the ABCA4 gene. Furthermore, a mutation (c.400C>T) in PROM1 was found." "F" "no" "" "" "0" "" "" "white (German-Czech-Hungarian)" "Unknown 1071"
"00368140" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31725702}" "" "F" "?" "United Arab Emirates" "" "0" "" "" "United Arab Emirates" "1"
"00368141" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31725702}" "" "F" "?" "United Arab Emirates" "" "0" "" "" "United Arab Emirates" "2"
"00368142" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31725702}" "" "F" "?" "United Arab Emirates" "" "0" "" "" "United Arab Emirates" "3"
"00368143" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31725702}" "" "F" "?" "United Arab Emirates" "" "0" "" "" "United Arab Emirates" "4"
"00368144" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31725702}" "" "M" "?" "United Arab Emirates" "" "0" "" "" "United Arab Emirates" "5"
"00368145" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31725702}" "" "M" "?" "United Arab Emirates" "" "0" "" "" "United Arab Emirates" "6"
"00368146" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31725702}" "" "M" "?" "United Arab Emirates" "" "0" "" "" "United Arab Emirates" "7"
"00368147" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31725702}" "" "M" "?" "United Arab Emirates" "" "0" "" "" "United Arab Emirates" "8"
"00368148" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31725702}" "" "M" "?" "United Arab Emirates" "" "0" "" "" "United Arab Emirates" "9"
"00368149" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31725702}" "" "M" "?" "United Arab Emirates" "" "0" "" "" "United Arab Emirates" "10"
"00368150" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31725702}" "" "M" "?" "United Arab Emirates" "" "0" "" "" "United Arab Emirates" "11"
"00368151" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31725702}" "" "F" "?" "United Arab Emirates" "" "0" "" "" "United Arab Emirates" "12"
"00368152" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31725702}" "" "F" "?" "United Arab Emirates" "" "0" "" "" "United Arab Emirates" "13"
"00368153" "" "" "" "1" "" "01695" "{PMID:Khan 2019:31725702}" "" "F" "?" "United Arab Emirates" "" "0" "" "" "United Arab Emirates" "14"
"00368154" "" "" "" "1" "" "01695" "{PMID:Zenteno 2019:31736247}" "" "" "?" "Mexico" "" "0" "" "" "Mexico" "3,286"
"00368155" "" "" "" "1" "" "01695" "{PMID:Zenteno 2019:31736247}" "" "" "?" "Mexico" "" "0" "" "" "Mexico" "3,457"
"00368156" "" "" "" "1" "" "01695" "{PMID:Zenteno 2019:31736247}" "" "" "?" "Mexico" "" "0" "" "" "Mexico" "3,522"
"00368157" "" "" "" "1" "" "01695" "{PMID:Zenteno 2019:31736247}" "" "" "?" "Mexico" "" "0" "" "" "Mexico" "3,529"
"00368158" "" "" "" "1" "" "01695" "{PMID:Zenteno 2019:31736247}" "" "" "?" "Mexico" "" "0" "" "" "Mexico" "3,566"
"00368159" "" "" "" "1" "" "01695" "{PMID:Zenteno 2019:31736247}" "" "" "?" "Mexico" "" "0" "" "" "Mexico" "3,632"
"00368222" "" "" "" "1" "" "01695" "{PMID:Reich 2019:31799409}" "" "F" "?" "Germany" "" "0" "" "" "" "2"
"00368223" "" "" "" "1" "" "01695" "{PMID:Reich 2019:31799409}" "" "F" "?" "Germany" "" "0" "" "" "" "3"
"00368224" "" "" "" "1" "" "01695" "{PMID:Reich 2019:31799409}{PMID:Reich 2020:33185728}" "" "M" "?" "Germany" "" "0" "" "" "" "4; 3"
"00368225" "" "" "" "1" "" "01695" "{PMID:Reich 2019:31799409}" "" "F" "?" "Germany" "" "0" "" "" "" "5"
"00368226" "" "" "" "1" "" "01695" "{PMID:Reich 2019:31799409}" "" "M" "?" "Germany" "" "0" "" "" "" "6"
"00368227" "" "" "" "1" "" "01695" "{PMID:Reich 2019:31799409}{PMID:Reich 2020:33185728}" "" "F" "?" "Germany" "" "0" "" "" "" "7; 5"
"00368228" "" "" "" "1" "" "01695" "{PMID:Reich 2019:31799409}{PMID:Reich 2020:33185728}" "" "F" "?" "Germany" "" "0" "" "" "" "8; 6"
"00368229" "" "" "" "1" "" "01695" "{PMID:Reich 2019:31799409}" "" "M" "?" "Germany" "" "0" "" "" "" "9"
"00368230" "" "" "" "1" "" "01695" "{PMID:Reich 2019:31799409}{PMID:Reich 2020:33185728}" "" "M" "?" "Germany" "" "0" "" "" "" "10; 7"
"00368231" "" "" "" "1" "" "01695" "{PMID:Reich 2019:31799409}{PMID:Reich 2020:33185728}" "" "M" "?" "Germany" "" "0" "" "" "" "11; 8"
"00368232" "" "" "" "1" "" "01695" "{PMID:Reich 2019:31799409}{PMID:Reich 2020:33185728}" "" "M" "?" "Germany" "" "0" "" "" "" "14; 11"
"00368233" "" "" "" "1" "" "01695" "{PMID:Reich 2019:31799409}" "" "F" "?" "Germany" "" "0" "" "" "" "15"
"00368234" "" "" "" "1" "" "01695" "{PMID:Reich 2019:31799409}{PMID:Reich 2020:33185728}" "" "F" "?" "Germany" "" "0" "" "" "" "17; 13"
"00368235" "" "" "" "1" "" "01695" "{PMID:Reich 2019:31799409}{PMID:Reich 2020:33185728}" "" "M" "?" "Germany" "" "0" "" "" "" "19; 15"
"00368236" "" "" "" "1" "" "01695" "{PMID:Reich 2019:31799409}" "" "M" "?" "Germany" "" "0" "" "" "" "20"
"00368237" "" "" "" "1" "" "01695" "{PMID:Reich 2019:31799409}" "" "F" "?" "Germany" "" "0" "" "" "" "21"
"00368238" "" "" "" "1" "" "01695" "{PMID:Reich 2019:31799409}" "" "F" "?" "Germany" "" "0" "" "" "" "22"
"00368239" "" "" "" "1" "" "01695" "{PMID:Reich 2019:31799409}{PMID:Reich 2020:33185728}" "" "F" "?" "Germany" "" "0" "" "" "" "23; 20"
"00368240" "" "" "" "1" "" "01695" "{PMID:Reich 2019:31799409}{PMID:Reich 2020:33185728}" "sibing of patients 16 and 18" "F" "?" "Germany" "" "0" "" "" "" "1*"
"00368241" "" "" "" "1" "" "01695" "{PMID:Reich 2019:31799409}{PMID:Reich 2020:33185728}" "sibling of patient 13" "M" "?" "Germany" "" "0" "" "" "" "12†; 9"
"00368242" "" "" "" "1" "" "01695" "{PMID:Reich 2019:31799409}{PMID:Reich 2020:33185728}" "sibling of patient 12" "F" "?" "Germany" "" "0" "" "" "" "13†; 10"
"00368243" "" "" "" "1" "" "01695" "{PMID:Reich 2019:31799409}{PMID:Reich 2020:33185728}" "sibing of patients 1 and 18" "M" "?" "Germany" "" "0" "" "" "" "16*; 12"
"00368244" "" "" "" "1" "" "01695" "{PMID:Reich 2019:31799409}{PMID:Reich 2020:33185728}" "sibing of patients 1 and 16" "F" "?" "Germany" "" "0" "" "" "" "18*; 14"
"00368245" "" "" "" "1" "" "01695" "{PMID:Joo 2019:31814693}" "" "F" "?" "Korea" "" "0" "" "" "Korea" "F1 H27"
"00368246" "" "" "" "1" "" "01695" "{PMID:Joo 2019:31814693}" "" "M" "?" "Korea" "" "0" "" "" "Korea" "F2 H62"
"00368247" "" "" "" "1" "" "01695" "{PMID:Joo 2019:31814693}" "" "M" "?" "Korea" "" "0" "" "" "Korea" "F3 H75"
"00368248" "" "" "" "1" "" "01695" "{PMID:Joo 2019:31814693}" "sibling of F4 H148" "F" "?" "Korea" "" "0" "" "" "Korea" "F4 H147"
"00368249" "" "" "" "1" "" "01695" "{PMID:Joo 2019:31814693}" "sibling of F4 H147" "F" "?" "Korea" "" "0" "" "" "Korea" "F4 H148"
"00368250" "" "" "" "1" "" "01695" "{PMID:Joo 2019:31814693}" "" "F" "?" "Korea" "" "0" "" "" "Korea" "F5 H234"
"00368251" "" "" "" "1" "" "01695" "{PMID:Joo 2019:31814693}" "" "M" "?" "Korea" "" "0" "" "" "Korea" "F6 H278"
"00368252" "" "" "" "1" "" "01695" "{PMID:Joo 2019:31814693}" "" "F" "?" "Korea" "" "0" "" "" "Korea" "F7 H830"
"00368253" "" "" "" "1" "" "01695" "{PMID:Joo 2019:31814693}" "" "F" "?" "Korea" "" "0" "" "" "Korea" "F8 H91"
"00368254" "" "" "" "1" "" "01695" "{PMID:Joo 2019:31814693}" "sibling of F9 H145" "F" "?" "Korea" "" "0" "" "" "Korea" "F9 H144"
"00368255" "" "" "" "1" "" "01695" "{PMID:Joo 2019:31814693}" "sibling of F9 H144" "M" "?" "Korea" "" "0" "" "" "Korea" "F9 H145"
"00368256" "" "" "" "1" "" "01695" "{PMID:Rehman 2019:31877759}" "" "" "yes" "Pakistan" "" "0" "" "" "Pashtuns" "PK028"
"00368257" "" "" "" "1" "" "01695" "{PMID:Rehman 2019:31877759}" "" "" "yes" "Pakistan" "" "0" "" "" "Pashtuns" "PK034"
"00368258" "" "" "" "1" "" "01695" "{PMID:Rehman 2019:31877759}" "" "" "yes" "Pakistan" "" "0" "" "" "Pashtuns" "PK037"
"00368259" "" "" "" "1" "" "01695" "{PMID:Rehman 2019:31877759}" "" "" "yes" "Pakistan" "" "0" "" "" "Pashtuns" "PK038"
"00368260" "" "" "" "1" "" "01695" "{PMID:Rehman 2019:31877759}" "" "" "yes" "Pakistan" "" "0" "" "" "Pashtuns" "PK043"
"00368261" "" "" "" "1" "" "01695" "{PMID:Rehman 2019:31877759}" "" "" "yes" "Pakistan" "" "0" "" "" "Pashtuns" "PK-B"
"00368262" "" "" "" "1" "" "01695" "{PMID:Rehman 2019:31877759}" "" "" "yes" "Pakistan" "" "0" "" "" "Pashtuns" "PK-D"
"00368263" "" "" "" "1" "" "01695" "{PMID:Rehman 2019:31877759}" "" "" "yes" "Pakistan" "" "0" "" "" "Pashtuns" "PK-E"
"00368264" "" "" "" "1" "" "01695" "{PMID:Rehman 2019:31877759}" "" "" "yes" "Pakistan" "" "0" "" "" "Pashtuns" "PK-F"
"00368265" "" "" "" "1" "" "01695" "{PMID:Rehman 2019:31877759}" "" "" "yes" "Pakistan" "" "0" "" "" "Pashtuns" "PK-P"
"00368266" "" "" "" "1" "" "01695" "{PMID:Müller 2019:31879568}{PMID:Müller 2020:32891696}{PMID:Müller 2020:32751377}" "" "F" "?" "Germany" "" "0" "" "" "white" "12; 16; 39"
"00368267" "" "" "" "1" "" "01695" "{PMID:Müller 2019:31879568}{PMID:Müller 2020:32891696}{PMID:Müller 2020:32751377}" "" "F" "?" "Germany" "" "0" "" "" "white" "15; 18; 44"
"00368268" "" "" "" "1" "" "01695" "{PMID:Mandal 2005:16123440}" "" "" "?" "" "" "0" "" "" "" "R206"
"00368269" "" "" "" "1" "" "01695" "{PMID:Mandal 2005:16123440}" "" "" "?" "" "" "0" "" "" "" "KE1246"
"00368270" "" "" "" "1" "" "01695" "{PMID:Mandal 2005:16123440}" "" "" "?" "" "" "0" "" "" "" "R376"
"00368271" "" "" "" "1" "" "01695" "{PMID:Collin 2011:21217109}" "" "M" "no" "Netherlands" "" "0" "" "" "" "20922"
"00368272" "" "" "" "1" "" "01695" "{PMID:Song 2011:22025579}" "Furthermore, c.1720C>T was found in GUCY2D, c.74T>A was found in LRAT and c.253G>A was found in GUCA1B" "F" "?" "" "" "0" "" "" "" "5"
"00368273" "" "" "" "1" "" "01695" "{PMID:Song 2011:22025579}" "Furthermore, c.1557C>A p.Tyr519Ter was found in PROM1" "M" "?" "" "" "0" "" "" "" "10"
"00368274" "" "" "" "1" "" "01695" "{PMID:Song 2011:22025579}" "" "M" "?" "" "" "0" "" "" "" "13"
"00368275" "" "" "" "1" "" "01695" "{PMID:Song 2011:22025579}" "Furthermore, c.5482A>G p.Ile1828Val was found in HMCN1" "F" "?" "" "" "0" "" "" "" "16"
"00368276" "" "" "" "1" "" "01695" "{PMID:Song 2011:22025579}" "" "M" "?" "" "" "0" "" "" "" "18"
"00368277" "" "" "" "1" "" "01695" "{PMID:Neveling 2012:22334370}" "" "F" "?" "" "" "0" "" "" "" "7554"
"00368278" "" "" "" "1" "" "01695" "{PMID:Neveling 2012:22334370}" "" "M" "?" "" "" "0" "" "" "" "21010"
"00368279" "" "" "" "1" "" "01695" "{PMID:Neveling 2012:22334370}" "" "F" "?" "" "" "0" "" "" "" "21384"
"00368280" "" "" "" "1" "" "01695" "{PMID:Khan 2013:23134348}" "5 more family members affected, same mutations" "M" "yes" "Pakistan" "" "0" "" "" "Pakistan" "RP03"
"00368281" "" "" "" "1" "" "01695" "{PMID:Müller 2020:31917732}" "" "F" "?" "" "" "0" "" "" "" "1"
"00368282" "" "" "" "1" "" "01695" "{PMID:Müller 2020:31917732}{PMID:Müller 2020:32751377}" "" "F" "?" "Germany" "" "0" "" "" "" "2; 4"
"00368283" "" "" "" "1" "" "01695" "{PMID:Müller 2020:31917732}" "" "F" "?" "" "" "0" "" "" "" "3"
"00368284" "" "" "" "1" "" "01695" "{PMID:Müller 2020:31917732}" "" "F" "?" "" "" "0" "" "" "" "4"
"00368285" "" "" "" "1" "" "01695" "{PMID:Müller 2020:31917732}" "" "F" "?" "" "" "0" "" "" "" "5"
"00368286" "" "" "" "1" "" "01695" "{PMID:Müller 2020:31917732}" "" "M" "?" "" "" "0" "" "" "" "6"
"00368287" "" "" "" "1" "" "01695" "{PMID:Müller 2020:31917732}" "Likely a sibling of patient 8" "M" "?" "" "" "0" "" "" "" "7"
"00368288" "" "" "" "1" "" "01695" "{PMID:Müller 2020:31917732}" "Likely a sibling of patient 7" "M" "?" "" "" "0" "" "" "" "8"
"00368289" "" "" "" "1" "" "01695" "{PMID:Müller 2020:31917732}" "" "F" "?" "" "" "0" "" "" "" "9"
"00368290" "" "" "" "1" "" "01695" "{PMID:Müller 2020:31917732}" "" "M" "?" "" "" "0" "" "" "" "10"
"00368291" "" "" "" "1" "" "01695" "{PMID:Müller 2020:31917732}" "" "F" "?" "" "" "0" "" "" "" "11"
"00368292" "" "" "" "1" "" "01695" "{PMID:Müller 2020:31917732}" "" "M" "?" "" "" "0" "" "" "" "13"
"00368293" "" "" "" "1" "" "01695" "{PMID:Müller 2020:31917732}" "" "F" "?" "" "" "0" "" "" "" "14"
"00368294" "" "" "" "1" "" "01695" "{PMID:Müller 2020:31917732}" "" "F" "?" "" "" "0" "" "" "" "15"
"00368295" "" "" "" "1" "" "01695" "{PMID:Müller 2020:31917732}" "" "F" "?" "" "" "0" "" "" "" "16"
"00368296" "" "" "" "1" "" "01695" "{PMID:Müller 2020:31917732}" "" "F" "?" "" "" "0" "" "" "" "17"
"00368297" "" "" "" "1" "" "01695" "{PMID:Müller 2020:31917732}" "" "M" "?" "" "" "0" "" "" "" "18"
"00368298" "" "" "" "1" "" "01695" "{PMID:Müller 2020:31917732}" "" "F" "?" "" "" "0" "" "" "" "19"
"00368299" "" "" "" "1" "" "01695" "{PMID:Raj 2020:31934596}" "" "" "yes" "India" "" "0" "" "" "India-S (one of Tamil Nadu, Pondicherry, Kerala, Andhra Pradesh and Karnataka)" "17"
"00368300" "" "" "" "1" "" "01695" "{PMID:Raj 2020:31934596}" "" "" "yes" "India" "" "0" "" "" "India-S (one of Tamil Nadu, Pondicherry, Kerala, Andhra Pradesh and Karnataka)" "18"
"00368301" "" "" "" "1" "" "01695" "{PMID:Raj 2020:31934596}" "" "" "?" "India" "" "0" "" "" "India-S (one of Tamil Nadu, Pondicherry, Kerala, Andhra Pradesh and Karnataka)" "19"
"00368302" "" "" "" "1" "" "01695" "{PMID:Raj 2020:31934596}" "" "" "?" "India" "" "0" "" "" "India-S (one of Tamil Nadu, Pondicherry, Kerala, Andhra Pradesh and Karnataka)" "20"
"00368303" "" "" "" "1" "" "01695" "{PMID:Raj 2020:31934596}" "" "" "?" "India" "" "0" "" "" "India-S (one of Tamil Nadu, Pondicherry, Kerala, Andhra Pradesh and Karnataka)" "21"
"00368304" "" "" "" "1" "" "01695" "{PMID:Raj 2020:31934596}" "" "" "yes" "India" "" "0" "" "" "India-S (one of Tamil Nadu, Pondicherry, Kerala, Andhra Pradesh and Karnataka)" "22"
"00368305" "" "" "" "1" "" "01695" "{PMID:Raj 2020:31934596}" "" "" "?" "India" "" "0" "" "" "India-S (one of Tamil Nadu, Pondicherry, Kerala, Andhra Pradesh and Karnataka)" "24"
"00368306" "" "" "" "1" "" "01695" "{PMID:Raj 2020:31934596}" "" "" "yes" "India" "" "0" "" "" "India-S (one of Tamil Nadu, Pondicherry, Kerala, Andhra Pradesh and Karnataka)" "25"
"00368307" "" "" "" "1" "" "01695" "{PMID:Raj 2020:31934596}" "" "" "yes" "India" "" "0" "" "" "India-S (one of Tamil Nadu, Pondicherry, Kerala, Andhra Pradesh and Karnataka)" "26"
"00368308" "" "" "" "1" "" "01695" "{PMID:Raj 2020:31934596}" "" "" "yes" "India" "" "0" "" "" "India-S (one of Tamil Nadu, Pondicherry, Kerala, Andhra Pradesh and Karnataka)" "27"
"00368309" "" "" "" "1" "" "01695" "{PMID:Raj 2020:31934596}" "" "" "yes" "India" "" "0" "" "" "India-S (one of Tamil Nadu, Pondicherry, Kerala, Andhra Pradesh and Karnataka)" "28"
"00368310" "" "" "" "1" "" "01695" "{PMID:Abu Ameerh 2020:31968401}" "Three more female family members were affected and carrier the same mutations" "M" "no" "" "" "0" "" "" "Jordan" "F1 IV-7"
"00368311" "" "" "" "1" "" "01695" "{PMID:Abu Ameerh 2020:31968401}" "Male brother was affected as well and carried the same mutations" "M" "yes" "" "" "0" "" "" "Jordan" "F3 IV-4"
"00368312" "" "" "" "1" "" "01695" "{PMID:Abu Ameerh 2020:31968401}" "One brother was affected as well" "F" "yes" "" "" "0" "" "" "Jordan" "F4 IV-6"
"00368313" "" "" "" "1" "" "01695" "{PMID:Cho 2020:32000842}" "" "F" "?" "United States" "" "0" "" "" "" "23"
"00368314" "" "" "" "1" "" "01695" "{PMID:Cho 2020:32000842}" "" "M" "?" "United States" "" "0" "" "" "" "24"
"00368315" "" "" "" "1" "" "01695" "{PMID:Cho 2020:32000842}" "A putative pathogenic variant in CACNA1F was also identified (c.1079C>T p.(Ser360Phe)). This gene is involved in blindness in a recessive of X-linked manner. This female patient is therefore unlikely to be affected by this variant." "F" "?" "Germany" "" "0" "" "" "white" "IV.4"
"00368316" "" "" "" "1" "" "01695" "{PMID:Liu 2020:32090030}" "Two additional variants were found in USH2A (c.1624A>G p.S542G and c.4758+3A>G)" "M" "?" "China" "" "0" "" "" "China" "RP01-II:1"
"00368317" "" "" "" "1" "" "01695" "{PMID:Liu 2020:32090030}" "Two additional variants were found in CDH23 (c.7145G>A p.R2382Q and c.9617G>A p.R3206H)" "M" "?" "China" "" "0" "" "" "China" "RP02-III:2"
"00368318" "" "" "" "1" "" "01695" "{PMID:Zanolli 2020:32141364}" "" "" "?" "Chile" "" "0" "" "" "" "Unknown 1072"
"00368319" "" "" "" "1" "" "01695" "{PMID:Zanolli 2020:32141364}" "" "" "?" "Chile" "" "0" "" "" "" "Unknown 1073"
"00368320" "" "" "" "1" "" "01695" "{PMID:Zanolli 2020:32141364}" "" "" "?" "Chile" "" "0" "" "" "" "Unknown 1074"
"00368321" "" "" "" "1" "" "01695" "{PMID:Zanolli 2020:32141364}" "" "" "?" "Chile" "" "0" "" "" "" "Unknown 1075"
"00368322" "" "" "" "1" "" "01695" "{PMID:Zanolli 2020:32141364}" "" "" "?" "Chile" "" "0" "" "" "" "Unknown 1076"
"00368323" "" "" "" "1" "" "01695" "{PMID:Zanolli 2020:32141364}" "" "" "?" "Chile" "" "0" "" "" "" "Unknown 1077"
"00368324" "" "" "" "1" "" "01695" "{PMID:Zanolli 2020:32141364}" "" "" "?" "Chile" "" "0" "" "" "" "Unknown 1078"
"00368325" "" "" "" "1" "" "01695" "{PMID:Zanolli 2020:32141364}" "" "" "?" "Chile" "" "0" "" "" "" "Unknown 1079"
"00368326" "" "" "" "1" "" "01695" "{PMID:Zanolli 2020:32141364}" "" "" "?" "Chile" "" "0" "" "" "" "Unknown 1080"
"00368327" "" "" "" "1" "" "01695" "{PMID:Zanolli 2020:32141364}" "" "" "?" "Chile" "" "0" "" "" "" "Unknown 1081"
"00368328" "" "" "" "1" "" "01695" "{PMID:Zanolli 2020:32141364}" "" "" "?" "Chile" "" "0" "" "" "" "Unknown 1082"
"00368329" "" "" "" "1" "" "01695" "{PMID:Zanolli 2020:32141364}" "" "" "?" "Chile" "" "0" "" "" "" "Unknown 1083"
"00368330" "" "" "" "1" "" "01695" "{PMID:Zanolli 2020:32141364}" "" "" "?" "Chile" "" "0" "" "" "" "Unknown 1084"
"00368331" "" "" "" "1" "" "01695" "{PMID:Zanolli 2020:32141364}" "" "" "?" "Chile" "" "0" "" "" "" "Unknown 1085"
"00368332" "" "" "" "1" "" "01695" "{PMID:Zanolli 2020:32141364}" "" "" "?" "Chile" "" "0" "" "" "" "Unknown 1086"
"00368333" "" "" "" "1" "" "01695" "{PMID:Zanolli 2020:32141364}" "" "" "?" "Chile" "" "0" "" "" "" "Unknown 1087"
"00368334" "" "" "" "1" "" "01695" "{PMID:Zanolli 2020:32141364}" "" "" "?" "Chile" "" "0" "" "" "" "Unknown 1088"
"00368335" "" "" "" "1" "" "01695" "{PMID:Zanolli 2020:32141364}" "" "" "?" "Chile" "" "0" "" "" "" "Unknown 1089"
"00368336" "" "" "" "1" "" "01695" "{PMID:Light 2017:28099317}" "Sibling of P2" "M" "?" "United States" "" "0" "" "" "white" "P1*"
"00368337" "" "" "" "1" "" "01695" "{PMID:Light 2017:28099317}" "Sibling of P1" "M" "?" "United States" "" "0" "" "" "white" "P2*"
"00368338" "" "" "" "1" "" "01695" "{PMID:Light 2017:28099317}" "" "M" "?" "United States" "" "0" "" "" "India" "P3"
"00368339" "" "" "" "1" "" "01695" "{PMID:Light 2017:28099317}" "" "F" "?" "United States" "" "0" "" "" "white" "P4"
"00368340" "" "" "" "1" "" "01695" "{PMID:Light 2017:28099317}" "" "M" "?" "United States" "" "0" "" "" "white" "P6"
"00368341" "" "" "" "1" "" "01695" "{PMID:Light 2017:28099317}{PMID:Cai 2018:29126757}" "" "M" "?" "United States" "" "0" "" "" "white" "P7"
"00368342" "" "" "" "1" "" "01695" "{PMID:Light 2017:28099317}{PMID:Cai 2018:29126757}" "" "F" "?" "United States" "" "0" "" "" "white" "P9; P12"
"00368343" "" "" "" "1" "" "01695" "{PMID:Light 2017:28099317}" "" "F" "?" "United States" "" "0" "" "" "India" "P11"
"00368344" "" "" "" "1" "" "01695" "{PMID:Light 2017:28099317}" "" "F" "?" "United States" "" "0" "" "" "white" "P12"
"00368345" "" "" "" "1" "" "01695" "{PMID:Light 2017:28099317}" "" "M" "?" "United States" "" "0" "" "" "white" "P14"
"00368346" "" "" "" "1" "" "01695" "{PMID:Light 2017:28099317}{PMID:Cai 2018:29126757}" "" "F" "?" "United States" "" "0" "" "" "African American" "P16; P8"
"00368347" "" "" "" "1" "" "01695" "{PMID:Light 2017:28099317}" "" "F" "?" "United States" "" "0" "" "" "white" "P17"
"00368348" "" "" "" "1" "" "01695" "{PMID:Light 2017:28099317}" "" "M" "?" "United States" "" "0" "" "" "African American" "P18"
"00368349" "" "" "" "1" "" "01695" "{PMID:Light 2017:28099317}" "" "F" "?" "United States" "" "0" "" "" "white" "P20"
"00368350" "" "" "" "1" "" "01695" "{PMID:Light 2017:28099317}" "" "F" "?" "United States" "" "0" "" "" "African American" "P21"
"00368351" "" "" "" "1" "" "01695" "{PMID:Light 2017:28099317}" "" "F" "?" "United States" "" "0" "" "" "white" "P23"
"00368352" "" "" "" "1" "" "01695" "{PMID:Huang 2013:23563732}" "" "" "?" "China" "" "0" "" "" "China" "Unknown 1090"
"00368353" "" "" "" "1" "" "01695" "{PMID:Huang 2013:23563732}" "" "" "?" "China" "" "0" "" "" "China" "Unknown 1091"
"00368354" "" "" "" "1" "" "01695" "{PMID:de Castro-Miró 2014:24516651}" "Two siblings affected in total" "" "?" "" "" "0" "" "" "Spain" "93RE"
"00368355" "" "" "" "1" "" "01695" "{PMID:Xu 2014:24938718}" "Younger brother affected as well" "M" "yes" "China" "" "0" "" "" "China" "RP005"
"00368356" "" "" "" "1" "" "01695" "{PMID:Xu 2014:24938718}" "Younger brother affected as well" "M" "no" "China" "" "0" "" "" "China" "RP250"
"00368357" "" "" "" "1" "" "01695" "{PMID:Xu 2014:24938718}" "Olders sister affected as well" "M" "no" "China" "" "0" "" "" "China" "RP342"
"00368358" "" "" "" "1" "" "01695" "{PMID:Xu 2014:24938718}" "" "M" "no" "China" "" "0" "" "" "China" "RP365"
"00368359" "" "" "" "1" "" "01695" "{PMID:Midgley 2020:32913387}" "" "" "?" "South Africa" "" "0" "" "" "" "Unknown 1092"
"00368360" "" "" "" "1" "" "01695" "{PMID:Midgley 2020:32913387}" "" "" "?" "South Africa" "" "0" "" "" "" "Unknown 1093"
"00368361" "" "" "" "1" "" "01695" "{PMID:Midgley 2020:32913387}" "" "" "?" "South Africa" "" "0" "" "" "" "Unknown 1094"
"00368362" "" "" "" "1" "" "01695" "{PMID:Midgley 2020:32913387}" "" "" "?" "South Africa" "" "0" "" "" "" "Unknown 1095"
"00368363" "" "" "" "1" "" "01695" "{PMID:Midgley 2020:32913387}" "" "" "?" "South Africa" "" "0" "" "" "" "Unknown 1096"
"00368364" "" "" "" "1" "" "01695" "{PMID:Midgley 2020:32913387}" "" "" "?" "South Africa" "" "0" "" "" "" "Unknown 1097"
"00368365" "" "" "" "1" "" "01695" "{PMID:Midgley 2020:32913387}" "" "" "?" "South Africa" "" "0" "" "" "" "Unknown 1098"
"00368366" "" "" "" "1" "" "01695" "{PMID:Midgley 2020:32913387}" "" "" "?" "South Africa" "" "0" "" "" "" "Unknown 1099"
"00368367" "" "" "" "1" "" "01695" "{PMID:Midgley 2020:32913387}" "" "" "?" "South Africa" "" "0" "" "" "" "Unknown 1100"
"00368368" "" "" "" "1" "" "01695" "{PMID:Midgley 2020:32913387}" "" "" "?" "South Africa" "" "0" "" "" "" "Unknown 1101"
"00368369" "" "" "" "1" "" "01695" "{PMID:Midgley 2020:32913387}" "" "" "?" "South Africa" "" "0" "" "" "" "Unknown 1102"
"00368370" "" "" "" "1" "" "01695" "{PMID:Midgley 2020:32913387}" "" "" "?" "South Africa" "" "0" "" "" "" "Unknown 1103"
"00368371" "" "" "" "1" "" "01695" "{PMID:Midgley 2020:32913387}" "" "" "?" "South Africa" "" "0" "" "" "" "Unknown 1104"
"00368372" "" "" "" "1" "" "01695" "{PMID:Midgley 2020:32913387}" "" "" "?" "South Africa" "" "0" "" "" "" "Unknown 1105"
"00368373" "" "" "" "1" "" "01695" "{PMID:Midgley 2020:32913387}" "" "" "?" "South Africa" "" "0" "" "" "" "Unknown 1106"
"00368374" "" "" "" "1" "" "01695" "{PMID:Midgley 2020:32913387}" "" "" "?" "South Africa" "" "0" "" "" "" "Unknown 1107"
"00368375" "" "" "" "1" "" "01695" "{PMID:Midgley 2020:32913387}" "" "" "?" "South Africa" "" "0" "" "" "" "Unknown 1108"
"00368376" "" "" "" "1" "" "01695" "{PMID:Midgley 2020:32913387}" "" "" "?" "South Africa" "" "0" "" "" "" "Unknown 1109"
"00368377" "" "" "" "1" "" "01695" "{PMID:Midgley 2020:32913387}" "" "" "?" "South Africa" "" "0" "" "" "" "Unknown 1110"
"00368378" "" "" "" "1" "" "01695" "{PMID:Midgley 2020:32913387}" "" "" "?" "South Africa" "" "0" "" "" "" "Unknown 1111"
"00368379" "" "" "" "1" "" "01695" "{PMID:Midgley 2020:32913387}" "" "" "?" "South Africa" "" "0" "" "" "" "Unknown 1112"
"00368380" "" "" "" "1" "" "01695" "{PMID:Müller 2020:32891696}{PMID:Müller 2020:32751377}{PMID:Gliem 2020:32646556}" "" "M" "?" "Germany" "" "0" "" "" "white" "67; 139; 82"
"00368381" "" "" "" "1" "" "01695" "{PMID:Hull 2020:32856788}" "" "" "?" "New Zealand" "" "0" "" "" "white" "Unknown 1113"
"00368382" "" "" "" "1" "" "01695" "{PMID:Hull 2020:32856788}" "" "" "?" "New Zealand" "" "0" "" "" "India" "Unknown 1114"
"00368383" "" "" "" "1" "" "01695" "{PMID:Hull 2020:32856788}" "" "" "?" "New Zealand" "" "0" "" "" "white" "Unknown 1115"
"00368384" "" "" "" "1" "" "01695" "{PMID:Hull 2020:32856788}" "" "" "?" "New Zealand" "" "0" "" "" "white" "Unknown 1116"
"00368385" "" "" "" "1" "" "01695" "{PMID:Hull 2020:32856788}" "" "" "?" "New Zealand" "" "0" "" "" "white" "Unknown 1117"
"00368386" "" "" "" "1" "" "01695" "{PMID:Hull 2020:32856788}" "" "" "?" "New Zealand" "" "0" "" "" "white" "Unknown 1118"
"00368387" "" "" "" "1" "" "01695" "{PMID:Hull 2020:32856788}" "" "" "?" "New Zealand" "" "0" "" "" "India" "Unknown 1119"
"00368388" "" "" "" "1" "" "01695" "{PMID:Hull 2020:32856788}" "" "" "?" "New Zealand" "" "0" "" "" "white" "Unknown 1120"
"00368389" "" "" "" "1" "" "01695" "{PMID:Hull 2020:32856788}" "" "" "?" "New Zealand" "" "0" "" "" "white" "Unknown 1121"
"00368390" "" "" "" "1" "" "01695" "{PMID:Hull 2020:32856788}" "" "" "?" "New Zealand" "" "0" "" "" "white" "Unknown 1122"
"00368391" "" "" "" "1" "" "01695" "{PMID:Hull 2020:32856788}" "" "" "?" "New Zealand" "" "0" "" "" "white" "Unknown 1123"
"00368392" "" "" "" "1" "" "01695" "{PMID:Hull 2020:32856788}" "" "" "?" "New Zealand" "" "0" "" "" "India" "Unknown 1124"
"00368393" "" "" "" "1" "" "01695" "{PMID:Hull 2020:32856788}" "" "" "?" "New Zealand" "" "0" "" "" "white" "Unknown 1125"
"00368394" "" "" "" "1" "" "01695" "{PMID:Hull 2020:32856788}" "" "" "?" "New Zealand" "" "0" "" "" "white" "Unknown 1126"
"00368395" "" "" "" "1" "" "01695" "{PMID:Hull 2020:32856788}" "" "" "?" "New Zealand" "" "0" "" "" "white" "Unknown 1127"
"00368396" "" "" "" "1" "" "01695" "{PMID:Hull 2020:32856788}" "" "" "?" "New Zealand" "" "0" "" "" "white" "Unknown 1128"
"00368397" "" "" "" "1" "" "01695" "{PMID:Hull 2020:32856788}" "" "" "?" "New Zealand" "" "0" "" "" "white" "Unknown 1129"
"00368398" "" "" "" "1" "" "01695" "{PMID:Hull 2020:32856788}" "" "" "?" "New Zealand" "" "0" "" "" "white" "Unknown 1130"
"00368399" "" "" "" "1" "" "01695" "{PMID:Hull 2020:32856788}" "" "" "?" "New Zealand" "" "0" "" "" "white" "Unknown 1131"
"00368400" "" "" "" "1" "" "01695" "{PMID:Hull 2020:32856788}" "" "" "?" "New Zealand" "" "0" "" "" "white" "Unknown 1132"
"00368401" "" "" "" "1" "" "01695" "{PMID:Hull 2020:32856788}" "" "" "?" "New Zealand" "" "0" "" "" "white" "Unknown 1133"
"00368402" "" "" "" "1" "" "01695" "{PMID:Hull 2020:32856788}" "" "" "?" "New Zealand" "" "0" "" "" "white" "Unknown 1134"
"00368403" "" "" "" "1" "" "01695" "{PMID:Hull 2020:32856788}" "" "" "?" "New Zealand" "" "0" "" "" "white" "Unknown 1135"
"00368404" "" "" "" "1" "" "01695" "{PMID:Hull 2020:32856788}" "" "" "?" "New Zealand" "" "0" "" "" "white" "Unknown 1136"
"00368405" "" "" "" "1" "" "01695" "{PMID:Hull 2020:32856788}" "" "" "?" "New Zealand" "" "0" "" "" "white" "Unknown 1137"
"00368406" "" "" "" "1" "" "01695" "{PMID:Hull 2020:32856788}" "" "" "?" "New Zealand" "" "0" "" "" "Asia" "Unknown 1138"
"00368407" "" "" "" "1" "" "01695" "{PMID:Hull 2020:32856788}" "" "" "?" "New Zealand" "" "0" "" "" "India" "Unknown 1139"
"00368408" "" "" "" "1" "" "01695" "{PMID:Hull 2020:32856788}" "" "" "?" "New Zealand" "" "0" "" "" "white" "Unknown 1140"
"00368409" "" "" "" "1" "" "01695" "{PMID:Hull 2020:32856788}" "" "" "?" "New Zealand" "" "0" "" "" "white" "Unknown 1141"
"00368410" "" "" "" "1" "" "01695" "{PMID:Hull 2020:32856788}" "" "" "?" "New Zealand" "" "0" "" "" "white" "Unknown 1142"
"00368411" "" "" "" "1" "" "01695" "{PMID:Hull 2020:32856788}" "" "" "?" "New Zealand" "" "0" "" "" "white" "Unknown 1143"
"00368412" "" "" "" "1" "" "01695" "{PMID:Hull 2020:32856788}" "" "" "?" "New Zealand" "" "0" "" "" "white" "Unknown 1144"
"00368413" "" "" "" "1" "" "01695" "{PMID:Hull 2020:32856788}" "" "" "?" "New Zealand" "" "0" "" "" "white" "Unknown 1145"
"00368414" "" "" "" "1" "" "01695" "{PMID:Hull 2020:32856788}" "" "" "?" "New Zealand" "" "0" "" "" "Maori" "Unknown 1146"
"00368415" "" "" "" "1" "" "01695" "{PMID:Hull 2020:32856788}" "" "" "?" "New Zealand" "" "0" "" "" "India" "Unknown 1147"
"00368416" "" "" "" "1" "" "01695" "{PMID:Hull 2020:32856788}" "" "" "?" "New Zealand" "" "0" "" "" "India" "Unknown 1148"
"00368417" "" "" "" "1" "" "01695" "{PMID:Liu 2020:32845068}" "" "" "?" "China" "" "0" "" "" "" "A001"
"00368418" "" "" "" "1" "" "01695" "{PMID:Liu 2020:32845068}" "" "" "?" "China" "" "0" "" "" "" "A002"
"00368419" "" "" "" "1" "" "01695" "{PMID:Liu 2020:32845068}" "" "" "?" "China" "" "0" "" "" "" "A003"
"00368420" "" "" "" "1" "" "01695" "{PMID:Liu 2020:32845068}" "" "" "?" "China" "" "0" "" "" "" "A004"
"00368421" "" "" "" "1" "" "01695" "{PMID:Liu 2020:32845068}" "" "" "?" "China" "" "0" "" "" "" "A005"
"00368422" "" "" "" "1" "" "01695" "{PMID:Liu 2020:32845068}" "" "" "?" "China" "" "0" "" "" "" "A006"
"00368423" "" "" "" "1" "" "01695" "{PMID:Liu 2020:32845068}" "" "" "?" "China" "" "0" "" "" "" "A007"
"00368424" "" "" "" "1" "" "01695" "{PMID:Liu 2020:32845068}" "" "" "?" "China" "" "0" "" "" "" "A008"
"00368425" "" "" "" "1" "" "01695" "{PMID:Liu 2020:32845068}" "" "" "?" "China" "" "0" "" "" "" "A009"
"00368426" "" "" "" "1" "" "01695" "{PMID:Liu 2020:32845068}" "" "" "?" "China" "" "0" "" "" "" "A010"
"00368427" "" "" "" "1" "" "01695" "{PMID:Liu 2020:32845068}" "" "" "?" "China" "" "0" "" "" "" "A011"
"00368428" "" "" "" "1" "" "01695" "{PMID:Liu 2020:32845068}" "" "" "?" "China" "" "0" "" "" "" "A012"
"00368429" "" "" "" "1" "" "01695" "{PMID:Liu 2020:32845068}" "" "" "?" "China" "" "0" "" "" "" "A013"
"00368430" "" "" "" "1" "" "01695" "{PMID:Liu 2020:32845068}" "" "" "?" "China" "" "0" "" "" "" "A014"
"00368431" "" "" "" "1" "" "01695" "{PMID:Liu 2020:32845068}" "" "" "?" "China" "" "0" "" "" "" "A015"
"00368432" "" "" "" "1" "" "01695" "{PMID:Liu 2020:32845068}" "" "" "?" "China" "" "0" "" "" "" "A016"
"00368433" "" "" "" "1" "" "01695" "{PMID:Liu 2020:32845068}" "" "" "?" "China" "" "0" "" "" "" "A017"
"00368434" "" "" "" "1" "" "01695" "{PMID:Liu 2020:32845068}" "" "" "?" "China" "" "0" "" "" "" "A018"
"00368435" "" "" "" "1" "" "01695" "{PMID:Liu 2020:32845068}" "" "" "?" "China" "" "0" "" "" "" "A019"
"00368436" "" "" "" "1" "" "01695" "{PMID:Liu 2020:32845068}" "" "" "?" "China" "" "0" "" "" "" "A020"
"00368437" "" "" "" "1" "" "01695" "{PMID:Liu 2020:32845068}" "" "" "?" "China" "" "0" "" "" "" "A021"
"00368438" "" "" "" "1" "" "01695" "{PMID:Liu 2020:32845068}" "" "" "?" "China" "" "0" "" "" "" "A022"
"00368439" "" "" "" "1" "" "01695" "{PMID:Liu 2020:32845068}" "" "" "?" "China" "" "0" "" "" "" "A023"
"00368440" "" "" "" "1" "" "01695" "{PMID:Liu 2020:32845068}" "" "" "?" "China" "" "0" "" "" "" "A024"
"00368441" "" "" "" "1" "" "01695" "{PMID:Liu 2020:32845068}" "" "" "?" "China" "" "0" "" "" "" "A025"
"00368442" "" "" "" "1" "" "01695" "{PMID:Liu 2020:32845068}" "" "" "?" "China" "" "0" "" "" "" "A026"
"00368443" "" "" "" "1" "" "01695" "{PMID:Liu 2020:32845068}" "" "" "?" "China" "" "0" "" "" "" "A027"
"00368444" "" "" "" "1" "" "01695" "{PMID:Liu 2020:32845068}" "" "" "?" "China" "" "0" "" "" "" "A028"
"00368445" "" "" "" "1" "" "01695" "{PMID:Liu 2020:32845068}" "" "" "?" "China" "" "0" "" "" "" "A029"
"00368446" "" "" "" "1" "" "01695" "{PMID:Liu 2020:32845068}" "" "" "?" "China" "" "0" "" "" "" "A030"
"00368447" "" "" "" "1" "" "01695" "{PMID:Liu 2020:32845068}" "" "" "?" "China" "" "0" "" "" "" "A031"
"00368448" "" "" "" "1" "" "01695" "{PMID:Liu 2020:32845068}" "" "" "?" "China" "" "0" "" "" "" "A032"
"00368449" "" "" "" "1" "" "01695" "{PMID:Liu 2020:32845068}" "" "" "?" "China" "" "0" "" "" "" "A033"
"00368450" "" "" "" "1" "" "01695" "{PMID:Liu 2020:32845068}" "" "" "?" "China" "" "0" "" "" "" "A034"
"00368451" "" "" "" "1" "" "01695" "{PMID:Liu 2020:32845068}" "" "" "?" "China" "" "0" "" "" "" "A035"
"00368452" "" "" "" "1" "" "01695" "{PMID:Liu 2020:32845068}" "" "" "?" "China" "" "0" "" "" "" "A036"
"00368453" "" "" "" "1" "" "01695" "{PMID:Liu 2020:32845068}" "" "" "?" "China" "" "0" "" "" "" "A037"
"00368454" "" "" "" "1" "" "01695" "{PMID:Liu 2020:32845068}" "" "" "?" "China" "" "0" "" "" "" "A038"
"00368455" "" "" "" "1" "" "01695" "{PMID:Liu 2020:32845068}" "" "" "?" "China" "" "0" "" "" "" "A039"
"00368456" "" "" "" "1" "" "01695" "{PMID:Liu 2020:32845068}" "" "" "?" "China" "" "0" "" "" "" "A040"
"00368457" "" "" "" "1" "" "01695" "{PMID:Liu 2020:32845068}" "" "" "?" "China" "" "0" "" "" "" "A041"
"00368458" "" "" "" "1" "" "01695" "{PMID:Liu 2020:32845068}" "" "" "?" "China" "" "0" "" "" "" "A042"
"00368459" "" "" "" "1" "" "01695" "{PMID:Melillo 2020:32821503}" "Likely sibling of T12" "M" "?" "Italy" "" "0" "" "" "" "C10"
"00368460" "" "" "" "1" "" "01695" "{PMID:Melillo 2020:32821503}" "" "F" "?" "Italy" "" "0" "" "" "" "C12"
"00368461" "" "" "" "1" "" "01695" "{PMID:Melillo 2020:32821503}" "" "M" "?" "Italy" "" "0" "" "" "" "C6"
"00368462" "" "" "" "1" "" "01695" "{PMID:Melillo 2020:32821503}" "likely sibling of C8 and T10" "M" "?" "Italy" "" "0" "" "" "" "C7"
"00368463" "" "" "" "1" "" "01695" "{PMID:Melillo 2020:32821503}" "likely sibling of C7 and T10" "M" "?" "Italy" "" "0" "" "" "" "C8"
"00368464" "" "" "" "1" "" "01695" "{PMID:Melillo 2020:32821503}" "" "F" "?" "Italy" "" "0" "" "" "" "C9"
"00368465" "" "" "" "1" "" "01695" "{PMID:Melillo 2020:32821503}" "" "F" "?" "Italy" "" "0" "" "" "" "T1"
"00368466" "" "" "" "1" "" "01695" "{PMID:Melillo 2020:32821503}" "likely sibling of C7 and C8" "M" "?" "Italy" "" "0" "" "" "" "T10"
"00368467" "" "" "" "1" "" "01695" "{PMID:Melillo 2020:32821503}" "likely sibling of C10" "M" "?" "Italy" "" "0" "" "" "" "T12"
"00368468" "" "" "" "1" "" "01695" "{PMID:Melillo 2020:32821503}" "" "M" "?" "Italy" "" "0" "" "" "" "T2"
"00368469" "" "" "" "1" "" "01695" "{PMID:Melillo 2020:32821503}" "" "M" "?" "Italy" "" "0" "" "" "" "T3"
"00368470" "" "" "" "1" "" "01695" "{PMID:Melillo 2020:32821503}" "" "F" "?" "Italy" "" "0" "" "" "" "T7"
"00368471" "" "" "" "1" "" "01695" "{PMID:Melillo 2020:32821503}" "" "M" "?" "Italy" "" "0" "" "" "" "T8"
"00368472" "" "" "" "1" "" "01695" "{PMID:Jennings 2020:32810830}" "" "M" "?" "" "" "0" "" "" "white" "Unknown 1149"
"00368473" "" "" "" "1" "" "01695" "{PMID:Méjécase 2020:32783370}" "" "" "?" "United Arab Emirates" "" "0" "" "" "Dubai" "Family 21"
"00368474" "" "" "" "1" "" "01695" "{PMID:Méjécase 2020:32783370}" "" "" "?" "United Arab Emirates" "" "0" "" "" "Dubai" "Family 22"
"00368475" "" "" "" "1" "" "01695" "{PMID:Méjécase 2020:32783370}" "" "" "?" "United Arab Emirates" "" "0" "" "" "Dubai" "Family 23"
"00368476" "" "" "" "1" "" "01695" "{PMID:Méjécase 2020:32783370}" "" "" "?" "United Arab Emirates" "" "0" "" "" "Dubai" "Family 24"
"00368477" "" "" "" "1" "" "01695" "{PMID:Méjécase 2020:32783370}" "" "" "?" "United Arab Emirates" "" "0" "" "" "Dubai" "Family 25"
"00368478" "" "" "" "1" "" "01695" "{PMID:Méjécase 2020:32783370}" "" "" "?" "United Arab Emirates" "" "0" "" "" "Dubai" "Family 26"
"00368479" "" "" "" "1" "" "01695" "{PMID:Méjécase 2020:32783370}" "" "" "?" "United Arab Emirates" "" "0" "" "" "Dubai" "Family 27"
"00368480" "" "" "" "1" "" "01695" "{PMID:Méjécase 2020:32783370}" "" "" "?" "United Arab Emirates" "" "0" "" "" "Dubai" "Family 28"
"00368481" "" "" "" "1" "" "01695" "{PMID:Méjécase 2020:32783370}" "" "" "?" "United Arab Emirates" "" "0" "" "" "Dubai" "Family 29"
"00368482" "" "" "" "1" "" "01695" "{PMID:Méjécase 2020:32783370}" "" "M" "yes" "United Arab Emirates" "" "0" "" "" "Dubai" "Family 30"
"00368483" "" "" "" "1" "" "01695" "{PMID:Méjécase 2020:32783370}" "" "" "?" "United Arab Emirates" "" "0" "" "" "Dubai" "Family 31"
"00368484" "" "" "" "1" "" "01695" "{PMID:Méjécase 2020:32783370}" "" "" "?" "United Arab Emirates" "" "0" "" "" "Dubai" "Family 32"
"00368485" "" "" "" "1" "" "01695" "{PMID:Müller 2020:32751377}{PMID:Gliem 2020:32646556}" "" "M" "?" "Germany" "" "0" "" "" "" "18; 45"
"00368486" "" "" "" "1" "" "01695" "{PMID:Coco-Martin 2020:32660024}" "Another mutation was found in PRPH2: p.Arg46Ter; grandfather on fathers side also affected" "M" "no" "Spain" "" "0" "" "" "white" "F2-III-6"
"00368487" "" "" "" "1" "" "01695" "{PMID:Coco-Martin 2020:32660024}" "Another mutation was found in PRPH2: p.Lys154del" "M" "no" "Spain" "" "0" "" "" "white" "F3-V-2"
"00368488" "" "" "" "1" "" "01695" "{PMID:Khan 2020:32653833}" "" "F" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "21567"
"00368489" "" "" "" "1" "" "01695" "{PMID:Khan 2020:32653833}" "" "F" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "4646"
"00368490" "" "" "" "1" "" "01695" "{PMID:Khan 2020:32653833}" "" "M" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "4988"
"00368491" "" "" "" "1" "" "01695" "{PMID:Khan 2020:32653833}" "" "F" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "20160"
"00368492" "" "" "" "1" "" "01695" "{PMID:Khan 2020:32653833}" "" "F" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "20122"
"00368493" "" "" "" "1" "" "01695" "{PMID:Khan 2020:32653833}" "" "M" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "25804"
"00368494" "" "" "" "1" "" "01695" "{PMID:Khan 2020:32653833}" "" "M" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "21670"
"00368495" "" "" "" "1" "" "01695" "{PMID:Khan 2020:32653833}" "" "F" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "20567"
"00368496" "" "" "" "1" "" "01695" "{PMID:Khan 2020:32653833}" "" "F" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "19004"
"00368497" "" "" "" "1" "" "01695" "{PMID:Khan 2020:32653833}" "" "F" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "20522"
"00368498" "" "" "" "1" "" "01695" "{PMID:Khan 2020:32653833}" "" "M" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "4198"
"00368499" "" "" "" "1" "" "01695" "{PMID:Khan 2020:32653833}" "" "F" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "4617"
"00368500" "" "" "" "1" "" "01695" "{PMID:Khan 2020:32653833}" "" "M" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "16063"
"00368501" "" "" "" "1" "" "01695" "{PMID:Khan 2020:32653833}" "" "F" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "20898"
"00368502" "" "" "" "1" "" "01695" "{PMID:Khan 2020:32653833}" "" "F" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "20546"
"00368503" "" "" "" "1" "" "01695" "{PMID:Khan 2020:32653833}" "" "F" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "17478"
"00368504" "" "" "" "1" "" "01695" "{PMID:Khan 2020:32653833}" "" "F" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "20655"
"00368505" "" "" "" "1" "" "01695" "{PMID:Khan 2020:32653833}" "" "F" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "21317"
"00368506" "" "" "" "1" "" "01695" "{PMID:Khan 2020:32653833}" "" "F" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "21659"
"00368507" "" "" "" "1" "" "01695" "{PMID:Khan 2020:32653833}" "" "M" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "21257"
"00368508" "" "" "" "1" "" "01695" "{PMID:Khan 2020:32653833}" "" "F" "?" "Australia" "" "0" "" "" "" "21"
"00368509" "" "" "" "1" "" "01695" "{PMID:Khan 2020:32653833}" "sibling of 22b" "F" "?" "Netherlands" "" "0" "" "" "" "22a"
"00368510" "" "" "" "1" "" "01695" "{PMID:Khan 2020:32653833}" "sibling of 22a" "M" "?" "Netherlands" "" "0" "" "" "" "22b"
"00368511" "" "" "" "1" "" "01695" "{PMID:Gliem 2020:32646556}" "" "F" "?" "Germany" "" "0" "" "" "" "1"
"00368512" "" "" "" "1" "" "01695" "{PMID:Gliem 2020:32646556}" "likely a sibling of patient 3" "F" "?" "Germany" "" "0" "" "" "" "2"
"00368513" "" "" "" "1" "" "01695" "{PMID:Gliem 2020:32646556}" "likely a sibling of patient 2" "F" "?" "Germany" "" "0" "" "" "" "3"
"00368514" "" "" "" "1" "" "01695" "{PMID:Gliem 2020:32646556}" "" "F" "?" "Germany" "" "0" "" "" "" "4"
"00368515" "" "" "" "1" "" "01695" "{PMID:Gliem 2020:32646556}" "" "M" "?" "Germany" "" "0" "" "" "" "5"
"00368516" "" "" "" "1" "" "01695" "{PMID:Gliem 2020:32646556}" "" "M" "?" "Germany" "" "0" "" "" "" "6"
"00368517" "" "" "" "1" "" "01695" "{PMID:Gliem 2020:32646556}" "" "F" "?" "Germany" "" "0" "" "" "" "7"
"00368518" "" "" "" "1" "" "01695" "{PMID:Gliem 2020:32646556}" "" "M" "?" "Germany" "" "0" "" "" "" "8"
"00368519" "" "" "" "1" "" "01695" "{PMID:Gliem 2020:32646556}" "" "M" "?" "Germany" "" "0" "" "" "" "10"
"00368520" "" "" "" "1" "" "01695" "{PMID:Gliem 2020:32646556}" "" "M" "?" "Germany" "" "0" "" "" "" "11"
"00368521" "" "" "" "1" "" "01695" "{PMID:Gliem 2020:32646556}" "" "F" "?" "Germany" "" "0" "" "" "" "12"
"00368522" "" "" "" "1" "" "01695" "{PMID:Gliem 2020:32646556}" "" "F" "?" "Germany" "" "0" "" "" "" "13"
"00368523" "" "" "" "1" "" "01695" "{PMID:Gliem 2020:32646556}" "" "F" "?" "Germany" "" "0" "" "" "" "14"
"00368524" "" "" "" "1" "" "01695" "{PMID:Gliem 2020:32646556}" "" "M" "?" "Germany" "" "0" "" "" "" "15"
"00368525" "" "" "" "1" "" "01695" "{PMID:Gliem 2020:32646556}" "" "F" "?" "Germany" "" "0" "" "" "" "16"
"00368526" "" "" "" "1" "" "01695" "{PMID:Gliem 2020:32646556}" "" "M" "?" "Germany" "" "0" "" "" "" "17"
"00368527" "" "" "" "1" "" "01695" "{PMID:Gliem 2020:32646556}" "" "F" "?" "Germany" "" "0" "" "" "" "18"
"00368528" "" "" "" "1" "" "01695" "{PMID:Gliem 2020:32646556}" "" "M" "?" "Germany" "" "0" "" "" "" "19"
"00368529" "" "" "" "1" "" "01695" "{PMID:Gliem 2020:32646556}" "" "F" "?" "Germany" "" "0" "" "" "" "20"
"00368530" "" "" "" "1" "" "01695" "{PMID:Gliem 2020:32646556}" "" "F" "?" "Germany" "" "0" "" "" "" "21"
"00368531" "" "" "" "1" "" "01695" "{PMID:Gliem 2020:32646556}" "" "M" "?" "Germany" "" "0" "" "" "" "22"
"00368532" "" "" "" "1" "" "01695" "{PMID:Gliem 2020:32646556}" "" "F" "?" "Germany" "" "0" "" "" "" "23"
"00368533" "" "" "" "1" "" "01695" "{PMID:Gliem 2020:32646556}" "" "M" "?" "Germany" "" "0" "" "" "" "24"
"00368534" "" "" "" "1" "" "01695" "{PMID:Gliem 2020:32646556}" "" "M" "?" "Germany" "" "0" "" "" "" "25"
"00368535" "" "" "" "1" "" "01695" "{PMID:Gliem 2020:32646556}" "" "M" "?" "Germany" "" "0" "" "" "" "26"
"00368536" "" "" "" "1" "" "01695" "{PMID:Gliem 2020:32646556}" "" "M" "?" "Germany" "" "0" "" "" "" "27"
"00368537" "" "" "" "1" "" "01695" "{PMID:Gliem 2020:32646556}" "" "F" "?" "Germany" "" "0" "" "" "" "28"
"00368538" "" "" "" "1" "" "01695" "{PMID:Gliem 2020:32646556}" "" "M" "?" "Germany" "" "0" "" "" "" "29"
"00368539" "" "" "" "1" "" "01695" "{PMID:Gliem 2020:32646556}" "" "F" "?" "Germany" "" "0" "" "" "" "30"
"00368540" "" "" "" "1" "" "01695" "{PMID:Gliem 2020:32646556}" "" "F" "?" "Germany" "" "0" "" "" "" "31"
"00368541" "" "" "" "1" "" "01695" "{PMID:Gliem 2020:32646556}" "" "M" "?" "Germany" "" "0" "" "" "" "32"
"00368542" "" "" "" "1" "" "01695" "{PMID:Gliem 2020:32646556}" "" "M" "?" "Germany" "" "0" "" "" "" "33"
"00368543" "" "" "" "1" "" "01695" "{PMID:Gliem 2020:32646556}" "" "F" "?" "Germany" "" "0" "" "" "" "34"
"00368544" "" "" "" "1" "" "01695" "{PMID:Gliem 2020:32646556}" "" "M" "?" "Germany" "" "0" "" "" "" "35"
"00368545" "" "" "" "1" "" "01695" "{PMID:Gliem 2020:32646556}" "" "F" "?" "Germany" "" "0" "" "" "" "36"
"00368546" "" "" "" "1" "" "01695" "{PMID:Gliem 2020:32646556}" "" "F" "?" "Germany" "" "0" "" "" "" "37"
"00368547" "" "" "" "1" "" "01695" "{PMID:Gliem 2020:32646556}" "" "M" "?" "Germany" "" "0" "" "" "" "38"
"00368548" "" "" "" "1" "" "01695" "{PMID:Gliem 2020:32646556}" "" "F" "?" "Germany" "" "0" "" "" "" "39"
"00368549" "" "" "" "1" "" "01695" "{PMID:Gliem 2020:32646556}" "" "F" "?" "Germany" "" "0" "" "" "" "40"
"00368550" "" "" "" "1" "" "01695" "{PMID:Gliem 2020:32646556}" "" "M" "?" "Germany" "" "0" "" "" "" "41"
"00368551" "" "" "" "1" "" "01695" "{PMID:Gliem 2020:32646556}" "" "M" "?" "Germany" "" "0" "" "" "" "42"
"00368552" "" "" "" "1" "" "01695" "{PMID:Gliem 2020:32646556}" "" "F" "?" "Germany" "" "0" "" "" "" "43"
"00368553" "" "" "" "1" "" "01695" "{PMID:Gliem 2020:32646556}" "" "F" "?" "Germany" "" "0" "" "" "" "44"
"00368554" "" "" "" "1" "" "01695" "{PMID:Gliem 2020:32646556}" "" "F" "?" "Germany" "" "0" "" "" "" "46"
"00368555" "" "" "" "1" "" "01695" "{PMID:Gliem 2020:32646556}" "" "F" "?" "Germany" "" "0" "" "" "" "48"
"00368556" "" "" "" "1" "" "01695" "{PMID:Gliem 2020:32646556}" "" "F" "?" "Germany" "" "0" "" "" "" "49"
"00368557" "" "" "" "1" "" "01695" "{PMID:Gliem 2020:32646556}" "" "M" "?" "Germany" "" "0" "" "" "" "50"
"00368558" "" "" "" "1" "" "01695" "{PMID:Gliem 2020:32646556}" "" "F" "?" "Germany" "" "0" "" "" "" "51"
"00368559" "" "" "" "1" "" "01695" "{PMID:Gliem 2020:32646556}" "" "F" "?" "Germany" "" "0" "" "" "" "52"
"00368560" "" "" "" "1" "" "01695" "{PMID:Gliem 2020:32646556}" "" "F" "?" "Germany" "" "0" "" "" "" "53"
"00368561" "" "" "" "1" "" "01695" "{PMID:Gliem 2020:32646556}" "" "M" "?" "Germany" "" "0" "" "" "" "54"
"00368562" "" "" "" "1" "" "01695" "{PMID:Gliem 2020:32646556}" "" "M" "?" "Germany" "" "0" "" "" "" "55"
"00368563" "" "" "" "1" "" "01695" "{PMID:Gliem 2020:32646556}" "" "F" "?" "Germany" "" "0" "" "" "" "56"
"00368564" "" "" "" "1" "" "01695" "{PMID:Gliem 2020:32646556}" "" "M" "?" "Germany" "" "0" "" "" "" "57"
"00368565" "" "" "" "1" "" "01695" "{PMID:Gliem 2020:32646556}" "" "F" "?" "Germany" "" "0" "" "" "" "58"
"00368566" "" "" "" "1" "" "01695" "{PMID:Gliem 2020:32646556}" "" "F" "?" "Germany" "" "0" "" "" "" "59"
"00368567" "" "" "" "1" "" "01695" "{PMID:Gliem 2020:32646556}" "" "F" "?" "Germany" "" "0" "" "" "" "60"
"00368568" "" "" "" "1" "" "01695" "{PMID:Gliem 2020:32646556}" "" "F" "?" "Germany" "" "0" "" "" "" "61"
"00368569" "" "" "" "1" "" "01695" "{PMID:Gliem 2020:32646556}" "" "F" "?" "Germany" "" "0" "" "" "" "62"
"00368570" "" "" "" "1" "" "01695" "{PMID:Gliem 2020:32646556}" "" "F" "?" "Germany" "" "0" "" "" "" "63"
"00368571" "" "" "" "1" "" "01695" "{PMID:Gliem 2020:32646556}" "" "F" "?" "Germany" "" "0" "" "" "" "64"
"00368572" "" "" "" "1" "" "01695" "{PMID:Gliem 2020:32646556}" "" "F" "?" "Germany" "" "0" "" "" "" "65"
"00368573" "" "" "" "1" "" "01695" "{PMID:Gliem 2020:32646556}" "" "F" "?" "Germany" "" "0" "" "" "" "66"
"00368574" "" "" "" "1" "" "01695" "{PMID:Gliem 2020:32646556}" "" "F" "?" "Germany" "" "0" "" "" "" "67"
"00368575" "" "" "" "1" "" "01695" "{PMID:Gliem 2020:32646556}" "" "M" "?" "Germany" "" "0" "" "" "" "68"
"00368576" "" "" "" "1" "" "01695" "{PMID:Gliem 2020:32646556}" "" "F" "?" "Germany" "" "0" "" "" "" "69"
"00368577" "" "" "" "1" "" "01695" "{PMID:Gliem 2020:32646556}" "" "M" "?" "Germany" "" "0" "" "" "" "70"
"00368578" "" "" "" "1" "" "01695" "{PMID:Gliem 2020:32646556}" "" "F" "?" "Germany" "" "0" "" "" "" "71"
"00368579" "" "" "" "1" "" "01695" "{PMID:Gliem 2020:32646556}" "" "F" "?" "Germany" "" "0" "" "" "" "72"
"00368580" "" "" "" "1" "" "01695" "{PMID:Gliem 2020:32646556}" "" "M" "?" "Germany" "" "0" "" "" "" "73"
"00368581" "" "" "" "1" "" "01695" "{PMID:Gliem 2020:32646556}" "" "F" "?" "Germany" "" "0" "" "" "" "74"
"00368582" "" "" "" "1" "" "01695" "{PMID:Gliem 2020:32646556}" "" "F" "?" "Germany" "" "0" "" "" "" "75"
"00368583" "" "" "" "1" "" "01695" "{PMID:Gliem 2020:32646556}" "" "F" "?" "Germany" "" "0" "" "" "" "76"
"00368584" "" "" "" "1" "" "01695" "{PMID:Gliem 2020:32646556}" "" "F" "?" "Germany" "" "0" "" "" "" "77"
"00368585" "" "" "" "1" "" "01695" "{PMID:Gliem 2020:32646556}" "" "M" "?" "Germany" "" "0" "" "" "" "78"
"00368586" "" "" "" "1" "" "01695" "{PMID:Gliem 2020:32646556}" "" "F" "?" "Germany" "" "0" "" "" "" "79"
"00368587" "" "" "" "1" "" "01695" "{PMID:Gliem 2020:32646556}" "" "F" "?" "Germany" "" "0" "" "" "" "80"
"00368588" "" "" "" "1" "" "01695" "{PMID:Gliem 2020:32646556}" "" "F" "?" "Germany" "" "0" "" "" "" "81"
"00368589" "" "" "" "1" "" "01695" "{PMID:Gliem 2020:32646556}" "" "M" "?" "Germany" "" "0" "" "" "" "82"
"00368590" "" "" "" "1" "" "01695" "{PMID:Gliem 2020:32646556}" "" "F" "?" "Germany" "" "0" "" "" "" "83"
"00368591" "" "" "" "1" "" "01695" "{PMID:Gliem 2020:32646556}" "" "F" "?" "Germany" "" "0" "" "" "" "84"
"00368592" "" "" "" "1" "" "01695" "{PMID:Gliem 2020:32646556}" "" "M" "?" "Germany" "" "0" "" "" "" "85"
"00368593" "" "" "" "1" "" "01695" "{PMID:Gliem 2020:32646556}" "" "M" "?" "Germany" "" "0" "" "" "" "86"
"00368594" "" "" "" "1" "" "01695" "{PMID:Gliem 2020:32646556}" "" "F" "?" "Germany" "" "0" "" "" "" "87"
"00368595" "" "" "" "1" "" "01695" "{PMID:Gliem 2020:32646556}" "" "F" "?" "Germany" "" "0" "" "" "" "88"
"00368596" "" "" "" "1" "" "01695" "{PMID:Gliem 2020:32646556}" "" "M" "?" "Germany" "" "0" "" "" "" "89"
"00368597" "" "" "" "1" "" "01695" "{PMID:Gliem 2020:32646556}" "" "F" "?" "Germany" "" "0" "" "" "" "90"
"00368598" "" "" "" "1" "" "01695" "{PMID:Gliem 2020:32646556}" "" "F" "?" "Germany" "" "0" "" "" "" "91"
"00368599" "" "" "" "1" "" "01695" "{PMID:Gliem 2020:32646556}" "" "F" "?" "Germany" "" "0" "" "" "" "92"
"00368600" "" "" "" "1" "" "01695" "{PMID:Gliem 2020:32646556}" "" "F" "?" "Germany" "" "0" "" "" "" "93"
"00368601" "" "" "" "1" "" "01695" "{PMID:Gliem 2020:32646556}" "" "M" "?" "Germany" "" "0" "" "" "" "94"
"00368602" "" "" "" "1" "" "01695" "{PMID:Gliem 2020:32646556}" "" "M" "?" "Germany" "" "0" "" "" "" "95"
"00368603" "" "" "" "1" "" "01695" "{PMID:Gliem 2020:32646556}" "" "M" "?" "Germany" "" "0" "" "" "" "96"
"00368604" "" "" "" "1" "" "01695" "{PMID:Gliem 2020:32646556}" "" "F" "?" "Germany" "" "0" "" "" "" "97"
"00368605" "" "" "" "1" "" "01695" "{PMID:Gliem 2020:32646556}" "" "F" "?" "Germany" "" "0" "" "" "" "98"
"00368606" "" "" "" "1" "" "01695" "{PMID:Habibi 2020:32641690}" "" "F" "yes" "Tunisia" "" "0" "" "" "" "F11 II.2"
"00368607" "" "" "" "1" "" "01695" "{PMID:Habibi 2020:32641690}" "" "F" "yes" "Tunisia" "" "0" "" "" "" "F12 II.1"
"00368608" "" "" "" "1" "" "01695" "{PMID:Habibi 2020:32641690}" "" "F" "yes" "Tunisia" "" "0" "" "" "" "F13 II.2"
"00368609" "" "" "" "1" "" "01695" "{PMID:Habibi 2020:32641690}" "" "F" "yes" "Tunisia" "" "0" "" "" "" "F14 III.3"
"00368610" "" "" "" "1" "" "01695" "{PMID:Huang 2020:32627976}" "sibling of patient II:3 and II:4. Father carries V! and V2 and is unaffected" "M" "no" "Australia" "" "0" "" "" "" "II:1"
"00368611" "" "" "" "1" "" "01695" "{PMID:Huang 2020:32627976}" "sibling of patient II:1 and II:4. Father carries V! and V2 and is unaffected" "M" "no" "Australia" "" "0" "" "" "" "II:3"
"00368612" "" "" "" "1" "" "01695" "{PMID:Huang 2020:32627976}" "sibling of patient II:1 and II:3. Father carries V! and V2 and is unaffected" "M" "no" "Australia" "" "0" "" "" "" "II:4"
"00368613" "" "" "" "1" "" "01695" "{PMID:Hu 2020:32534057}" "" "M" "no" "China" "" "0" "" "" "China" "F1:?:1"
"00368614" "" "" "" "1" "" "01695" "{PMID:Hu 2020:32534057}" "" "M" "no" "China" "" "0" "" "" "China" "F2:?:1"
"00368615" "" "" "" "1" "" "01695" "{PMID:Hu 2020:32534057}" "" "M" "no" "China" "" "0" "" "" "China" "F3:?:1"
"00368616" "" "" "" "1" "" "01695" "{PMID:Hu 2020:32534057}" "" "F" "no" "China" "" "0" "" "" "China" "F4:?:1"
"00368617" "" "" "" "1" "" "01695" "{PMID:Hu 2020:32534057}" "" "M" "yes" "China" "" "0" "" "" "China" "F5:?:1"
"00368618" "" "" "" "1" "" "01695" "{PMID:Hu 2020:32534057}" "" "M" "no" "China" "" "0" "" "" "China" "F6:?:1"
"00368619" "" "" "" "1" "" "01695" "{PMID:Hu 2020:32534057}{PMID:Hu 2019:31543898}" "" "M" "no" "China" "" "0" "" "" "China" "F7:?:1 ; P19"
"00368620" "" "" "" "1" "" "01695" "{PMID:Hu 2020:32534057}" "" "F" "no" "China" "" "0" "" "" "China" "F8:?:1"
"00368621" "" "" "" "1" "" "01695" "{PMID:Hu 2020:32534057}" "" "M" "no" "China" "" "0" "" "" "China" "F9:?:1"
"00368622" "" "" "" "1" "" "01695" "{PMID:Green 2020:32467599}" "sibling of S1:III-6, family member of S1:V-1" "" "?" "Canada" "" "0" "" "" "" "S1:III-4"
"00368623" "" "" "" "1" "" "01695" "{PMID:Green 2020:32467599}" "sibling of S1:III-4, family member of S1:V-1" "" "?" "Canada" "" "0" "" "" "" "S1:III-6"
"00368624" "" "" "" "1" "" "01695" "{PMID:Green 2020:32467599}" "family member of S1:III-4 and S1:III-6" "" "?" "Canada" "" "0" "" "" "" "S1:V-1"
"00368625" "" "" "" "1" "" "01695" "{PMID:Green 2020:32467599}" "family member of S2:V-1 and S2:V-3" "" "?" "Canada" "" "0" "" "" "" "S2:IV-5"
"00368626" "" "" "" "1" "" "01695" "{PMID:Green 2020:32467599}" "sibling of S2:V-3 and family member of S2:IV-5" "" "?" "Canada" "" "0" "" "" "" "S2:V-1"
"00368627" "" "" "" "1" "" "01695" "{PMID:Green 2020:32467599}" "sibling of S2:V-1 and family member of S2:IV-5" "" "?" "Canada" "" "0" "" "" "" "S2:V-3"
"00368628" "" "" "" "1" "" "01695" "{PMID:Green 2020:32467599}" "" "" "?" "Canada" "" "0" "" "" "" "S3:II-1"
"00368629" "" "" "" "1" "" "01695" "{PMID:Green 2020:32467599}" "sibling of S4:II-3" "" "?" "Canada" "" "0" "" "" "" "S4:II-2"
"00368630" "" "" "" "1" "" "01695" "{PMID:Green 2020:32467599}" "sibling of S4:II-2" "" "?" "Canada" "" "0" "" "" "" "S4:II-3"
"00368631" "" "" "" "1" "" "01695" "{PMID:Green 2020:32467599}" "Sibling of S5:II-4 and S5:III-1" "" "?" "Canada" "" "0" "" "" "" "S5:II-2"
"00368632" "" "" "" "1" "" "01695" "{PMID:Green 2020:32467599}" "Sibling of S5:II-2 and S5:III-1" "" "?" "Canada" "" "0" "" "" "" "S5:II-4"
"00368633" "" "" "" "1" "" "01695" "{PMID:Green 2020:32467599}" "Family member of S5:II-2 and S5:II-4" "" "?" "Canada" "" "0" "" "" "" "S5:III-1"
"00368634" "" "" "" "1" "" "01695" "{PMID:Green 2020:32467599}" "" "" "?" "Canada" "" "0" "" "" "" "S6:III-1"
"00368635" "" "" "" "1" "" "01695" "{PMID:Green 2020:32467599}" "" "" "?" "Canada" "" "0" "" "" "" "S7:II-1"
"00368636" "" "" "" "1" "" "01695" "{PMID:Green 2020:32467599}" "" "" "?" "Canada" "" "0" "" "" "" "S8:II-2"
"00368637" "" "" "" "1" "" "01695" "{PMID:Green 2020:32467599}" "Family member of S9:III-8 and S9:IV-1" "" "?" "Canada" "" "0" "" "" "" "S9:III-1"
"00368638" "" "" "" "1" "" "01695" "{PMID:Green 2020:32467599}" "Family member of S9:III-1 and S9:IV-1" "" "?" "Canada" "" "0" "" "" "" "S9:III-8"
"00368639" "" "" "" "1" "" "01695" "{PMID:Green 2020:32467599}" "Family member of S9:III-1 and S9:III-8" "" "?" "Canada" "" "0" "" "" "" "S9:IV-1"
"00368640" "" "" "" "1" "" "01695" "{PMID:Green 2020:32467599}" "" "" "?" "Canada" "" "0" "" "" "" "S11:II-1"
"00368641" "" "" "" "1" "" "01695" "{PMID:Green 2020:32467599}" "" "" "?" "Canada" "" "0" "" "" "" "S13:II-2"
"00368642" "" "" "" "1" "" "01695" "{PMID:Green 2020:32467599}" "Consanguinous family member of S16:IV-2, S16:IV-3, S16:IV-4 and S16:V-1" "" "yes" "Canada" "" "0" "" "" "" "S16:II-4"
"00368643" "" "" "" "1" "" "01695" "{PMID:Green 2020:32467599}" "Consanguinous family member of S16:II-4, S16:IV-3, S16:IV-4 and S16:V-1" "" "yes" "Canada" "" "0" "" "" "" "S16:IV-2"
"00368644" "" "" "" "1" "" "01695" "{PMID:Green 2020:32467599}" "Consanguinous family member of S16:II-4, S16:IV-2, S16:IV-4 and S16:V-1" "" "yes" "Canada" "" "0" "" "" "" "S16:IV-3"
"00368645" "" "" "" "1" "" "01695" "{PMID:Green 2020:32467599}" "Consanguinous family member of S16:II-4, S16:IV-2, S16:IV-3 and S16:V-1" "" "yes" "Canada" "" "0" "" "" "" "S16:IV-4"
"00368646" "" "" "" "1" "" "01695" "{PMID:Green 2020:32467599}" "Consanguinous family member of S16:II-4, S16:IV-2, S16:IV-3 and S16:IV-4" "" "yes" "Canada" "" "0" "" "" "" "S16:V-1"
"00368647" "" "" "" "1" "" "01695" "{PMID:Green 2020:32467599}" "Sibling of S17:II-3 and S17:II-8" "" "?" "Canada" "" "0" "" "" "" "S17:II-2"
"00368648" "" "" "" "1" "" "01695" "{PMID:Green 2020:32467599}" "Sibling of S17:II-2 and S17:II-8" "" "?" "Canada" "" "0" "" "" "" "S17:II-3"
"00368649" "" "" "" "1" "" "01695" "{PMID:Green 2020:32467599}" "Sibling of S17:II-2 and S17:II-3" "" "?" "Canada" "" "0" "" "" "" "S17:II-8"
"00368650" "" "" "" "1" "" "01695" "{PMID:Green 2020:32467599}" "" "" "?" "Canada" "" "0" "" "" "" "S18:II-1"
"00368651" "" "" "" "1" "" "01695" "{PMID:Green 2020:32467599}" "" "" "?" "Canada" "" "0" "" "" "" "S19:II-3"
"00368652" "" "" "" "1" "" "01695" "{PMID:Green 2020:32467599}" "" "" "?" "Canada" "" "0" "" "" "" "S21:II-1"
"00368653" "" "" "" "1" "" "01695" "{PMID:Green 2020:32467599}" "" "" "?" "Canada" "" "0" "" "" "" "S22:II-2"
"00368654" "" "" "" "1" "" "01695" "{PMID:Green 2020:32467599}" "Sibling of S23:II-4" "" "?" "Canada" "" "0" "" "" "" "S23:II-3"
"00368655" "" "" "" "1" "" "01695" "{PMID:Green 2020:32467599}" "Sibling of S23:II-3" "" "?" "Canada" "" "0" "" "" "" "S23-II-4"
"00368656" "" "" "" "1" "" "01695" "{PMID:Green 2020:32467599}" "Sibling of S24:II-3" "" "?" "Canada" "" "0" "" "" "" "S24:II-1"
"00368657" "" "" "" "1" "" "01695" "{PMID:Green 2020:32467599}" "Sibling of S24:II-1" "" "?" "Canada" "" "0" "" "" "" "S24:II-3"
"00368658" "" "" "" "1" "" "01695" "{PMID:Green 2020:32467599}" "" "" "?" "Canada" "" "0" "" "" "" "S25:II-2"
"00368659" "" "" "" "1" "" "01695" "{PMID:Green 2020:32467599}" "" "" "?" "Canada" "" "0" "" "" "" "S26:II-1"
"00368660" "" "" "" "1" "" "01695" "{PMID:Green 2020:32467599}" "" "" "?" "Canada" "" "0" "" "" "" "S27:II-2"
"00368661" "" "" "" "1" "" "01695" "{PMID:Green 2020:32467599}" "" "" "?" "Canada" "" "0" "" "" "" "S28:II-1"
"00368662" "" "" "" "1" "" "01695" "{PMID:Green 2020:32467599}" "" "" "?" "Canada" "" "0" "" "" "" "S29:II-2"
"00368663" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-0033"
"00368664" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-0039"
"00368665" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-0051"
"00368666" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-0094"
"00368667" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-0173"
"00368668" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-0190"
"00368669" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-0242"
"00368670" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-0245"
"00368671" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-0279"
"00368672" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-0280"
"00368673" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-0286"
"00368674" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-0293"
"00368675" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-0301"
"00368676" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-0323"
"00368677" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-0335"
"00368678" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-0340"
"00368679" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-0341"
"00368680" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-0353"
"00368681" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-0373"
"00368682" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-0394"
"00368683" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-0395"
"00368684" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-0400"
"00368685" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-0401"
"00368686" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-0402"
"00368687" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-0414"
"00368688" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-0423"
"00368689" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-0456"
"00368690" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-0460"
"00368691" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-0463"
"00368692" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-0493"
"00368693" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-0502"
"00368694" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-0512"
"00368695" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-0521"
"00368696" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-0536"
"00368697" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-0537"
"00368698" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-0548"
"00368699" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "yes" "Spain" "" "0" "" "" "" "MD-0554"
"00368700" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-0555"
"00368701" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-0556"
"00368702" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-0558"
"00368703" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-0563"
"00368704" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-0571"
"00368705" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-0572"
"00368706" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-0578"
"00368707" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-0580"
"00368708" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-0583"
"00368709" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-0584"
"00368710" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-0589"
"00368711" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-0595"
"00368712" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-0599"
"00368713" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-0602"
"00368714" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-0604"
"00368715" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-0611"
"00368716" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-0617"
"00368717" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-0619"
"00368718" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-0622"
"00368719" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-0625"
"00368720" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-0626"
"00368721" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-0631"
"00368722" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-0632"
"00368723" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-0635"
"00368724" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-0640"
"00368725" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-0658"
"00368726" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-0663"
"00368727" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-0675"
"00368728" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-0678"
"00368729" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-0683"
"00368730" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-0691"
"00368731" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-0692"
"00368732" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-0694"
"00368733" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-0696"
"00368734" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-0698"
"00368735" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-0701"
"00368736" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-0704"
"00368737" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-0705"
"00368738" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-0714"
"00368739" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-0716"
"00368740" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-0717"
"00368741" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-0720"
"00368742" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-0723"
"00368743" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-0724"
"00368744" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-0731"
"00368745" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-0736"
"00368746" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-0740"
"00368747" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-0741"
"00368748" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-0746"
"00368749" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-0747"
"00368750" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-0748"
"00368751" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-0750"
"00368752" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-0751"
"00368753" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-0754"
"00368754" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-0759"
"00368755" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-0765"
"00368756" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-0768"
"00368757" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-0769"
"00368758" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-0770"
"00368759" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-0771"
"00368760" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "endogamy" "" "?" "Spain" "" "0" "" "" "" "MD-0778"
"00368761" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-0779"
"00368762" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-0780"
"00368763" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "yes" "Spain" "" "0" "" "" "" "MD-0781"
"00368764" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-0783"
"00368765" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-0787"
"00368766" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-0790"
"00368767" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-0791"
"00368768" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-0794"
"00368769" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-0797"
"00368770" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-0799"
"00368771" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-0807"
"00368772" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-0819"
"00368773" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-0821"
"00368774" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-0822"
"00368775" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-0829"
"00368776" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-0832"
"00368777" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-0834"
"00368778" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-0846"
"00368779" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-0847"
"00368780" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-0856"
"00368781" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-0859"
"00368782" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-0863"
"00368783" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-0864"
"00368784" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-0869"
"00368785" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-0870"
"00368786" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-0877"
"00368787" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-0878"
"00368788" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-0881"
"00368789" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-0882"
"00368790" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-0885"
"00368791" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-0886"
"00368792" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-0894"
"00368793" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-0906"
"00368794" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-0908"
"00368795" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-0911"
"00368796" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-0918"
"00368797" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-0925"
"00368798" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-0929"
"00368799" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-0932"
"00368800" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-0933"
"00368801" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-0939"
"00368802" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-0941"
"00368803" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-0943"
"00368804" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-0945"
"00368805" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-0946"
"00368806" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-0952"
"00368807" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-0953"
"00368808" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-0954"
"00368809" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-0955"
"00368810" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-0956"
"00368811" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-0959"
"00368812" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-0960"
"00368813" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-0962"
"00368814" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-0963"
"00368815" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-0964"
"00368816" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-0966"
"00368817" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-0968"
"00368818" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-0969"
"00368819" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-0979"
"00368820" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-0980"
"00368821" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-0981"
"00368822" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-0984"
"00368823" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-0989"
"00368824" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-0991"
"00368825" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-0993"
"00368826" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-0995"
"00368827" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-0997"
"00368828" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-1000"
"00368829" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-1001"
"00368830" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-1007"
"00368831" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-1010"
"00368832" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-1015"
"00368833" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-1022"
"00368834" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-1025"
"00368835" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-1034"
"00368836" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-1036"
"00368837" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-1041"
"00368838" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-1042"
"00368839" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-1045"
"00368840" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-1046"
"00368841" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-1047"
"00368842" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-1048"
"00368843" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-1049"
"00368844" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-1050"
"00368845" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-1054"
"00368846" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-1059"
"00368847" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-1063"
"00368848" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-1064"
"00368849" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-1067"
"00368850" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-1070"
"00368851" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-1071"
"00368852" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-1072"
"00368853" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-1075"
"00368854" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-1077"
"00368855" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-1086"
"00368856" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-1100"
"00368857" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-1101"
"00368858" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-1102"
"00368859" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-1106"
"00368860" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-1107"
"00368861" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-1110"
"00368862" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-1114"
"00368863" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-1116"
"00368864" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-1119"
"00368865" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-1120"
"00368866" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-1121"
"00368867" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-1123"
"00368868" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-1130"
"00368869" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-1137"
"00368870" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-1138"
"00368871" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-1139"
"00368872" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-1146"
"00368873" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-1147"
"00368874" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-1156"
"00368875" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-1157"
"00368876" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-1164"
"00368877" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-1184"
"00368878" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-1193"
"00368879" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-1202"
"00368880" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-1205"
"00368881" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-1207"
"00368882" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-1208"
"00368883" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-1211"
"00368884" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-1212"
"00368885" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-1216"
"00368886" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-1219"
"00368887" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-1220"
"00368888" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-1223"
"00368889" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-1228"
"00368890" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-1230"
"00368891" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-1233"
"00368892" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-1235"
"00368893" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-1236"
"00368894" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-1238"
"00368895" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-1239"
"00368896" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-1240"
"00368897" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-1243"
"00368898" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-1246"
"00368899" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-1249"
"00368900" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-1251"
"00368901" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-1255"
"00368902" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-1257"
"00368903" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-1258"
"00368904" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-1264"
"00368905" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-1271"
"00368906" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-1272"
"00368907" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-1273"
"00368908" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-1274"
"00368909" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-1279"
"00368910" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-1298"
"00368911" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-1300"
"00368912" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-1302"
"00368913" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-1339"
"00368914" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "yes" "Spain" "" "0" "" "" "" "MD-1343"
"00368915" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-1348"
"00368916" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-1349"
"00368917" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-1350"
"00368918" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-1353"
"00368919" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-1356"
"00368920" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-1359"
"00368921" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-1375"
"00368922" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-1376"
"00368923" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-1377"
"00368924" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "MD-1381"
"00368925" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "RP-0033"
"00368926" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "RP-0280"
"00368927" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "RP-0298"
"00368928" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "RP-0532"
"00368929" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "RP-0674"
"00368930" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "RP-1102"
"00368931" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "endogamy" "" "?" "Spain" "" "0" "" "" "" "RP-1367"
"00368932" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "RP-1455"
"00368933" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "RP-1578"
"00368934" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "RP-1603"
"00368935" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "yes" "Spain" "" "0" "" "" "" "RP-1669"
"00368936" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "endogamy" "" "?" "Spain" "" "0" "" "" "" "RP-1819"
"00368937" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "RP-1844"
"00368938" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "RP-2133"
"00368939" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "RP-2252"
"00368940" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "RP-2500"
"00368941" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "endogamy" "" "?" "Spain" "" "0" "" "" "" "RP-2531"
"00368942" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "RP-2668"
"00368943" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "RP-2680"
"00368944" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "RP-2867"
"00368945" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "RP-2948"
"00368946" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "yes" "Spain" "" "0" "" "" "" "RP-2956"
"00368947" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "RP-3080"
"00368948" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "RP-3093"
"00368949" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "RP-3118"
"00368950" "" "" "" "1" "" "01695" "{PMID:Del Pozo-Valero 2020:32619608}" "" "" "?" "Spain" "" "0" "" "" "" "RP-3136"
"00368951" "" "" "" "1" "" "01695" "{PMID:Hao 2020:32399422}" "Older sister is also affected" "M" "?" "China" "" "0" "" "" "China" "II-1"
"00368952" "" "" "" "1" "" "01695" "{PMID:Toulis 2020:32244552}" "Has an affected sister as well" "F" "?" "" "" "0" "" "" "" "DBG1"
"00368953" "" "" "" "1" "" "01695" "{PMID:Toulis 2020:32244552}" "" "M" "?" "" "" "0" "" "" "" "DBG2"
"00368954" "" "" "" "1" "" "01695" "{PMID:Wang 2014:25097241}" "" "F" "?" "United States" "" "0" "" "" "" "1"
"00368955" "" "" "" "1" "" "01695" "{PMID:Wang 2014:25097241}" "" "F" "?" "United States" "" "0" "" "" "" "2"
"00368956" "" "" "" "1" "" "01695" "{PMID:Wang 2014:25097241}" "" "M" "?" "United States" "" "0" "" "" "" "3"
"00368957" "" "" "" "1" "" "01695" "{PMID:Wang 2014:25097241}" "" "F" "?" "United States" "" "0" "" "" "" "4"
"00368958" "" "" "" "1" "" "01695" "{PMID:Wang 2014:25097241}" "" "M" "?" "United States" "" "0" "" "" "" "5"
"00368959" "" "" "" "1" "" "01695" "{PMID:Wang 2014:25097241}" "" "F" "?" "United States" "" "0" "" "" "" "6"
"00368960" "" "" "" "1" "" "01695" "{PMID:Consugar 2015:25412400}" "" "" "?" "United States" "" "0" "" "" "" "OGI-561-1151"
"00368961" "" "" "" "1" "" "01695" "{PMID:Consugar 2015:25412400}" "" "" "?" "United States" "" "0" "" "" "" "OGI-064-149"
"00368962" "" "" "" "1" "" "01695" "{PMID:Consugar 2015:25412400}" "" "" "?" "United States" "" "0" "" "" "" "OGI-533-1088"
"00368963" "" "" "" "1" "" "01695" "{PMID:Consugar 2015:25412400}" "" "" "?" "United States" "" "0" "" "" "" "OGI-428-910"
"00368964" "" "" "" "1" "" "01695" "{PMID:Consugar 2015:25412400}" "" "" "?" "United States" "" "0" "" "" "" "OGI-154-590"
"00368965" "" "" "" "1" "" "01695" "{PMID:Consugar 2015:25412400}" "" "" "?" "United States" "" "0" "" "" "" "OGI-261-547"
"00368966" "" "" "" "1" "" "01695" "{PMID:Consugar 2015:25412400}" "" "" "?" "United States" "" "0" "" "" "" "OGI-288-602"
"00368967" "" "" "" "1" "" "01695" "{PMID:Consugar 2015:25412400}" "" "" "?" "United States" "" "0" "" "" "" "OGI-304-709"
"00368968" "" "" "" "1" "" "01695" "{PMID:Consugar 2015:25412400}" "" "" "?" "United States" "" "0" "" "" "" "OGI-312-735"
"00368969" "" "" "" "1" "" "01695" "{PMID:Consugar 2015:25412400}" "" "" "?" "United States" "" "0" "" "" "" "OGI-424-903"
"00368970" "" "" "" "1" "" "01695" "{PMID:Consugar 2015:25412400}" "" "" "?" "United States" "" "0" "" "" "" "OGI-435-928"
"00368971" "" "" "" "1" "" "01695" "{PMID:Consugar 2015:25412400}" "" "" "?" "United States" "" "0" "" "" "" "OGI-146-393"
"00368972" "" "" "" "1" "" "01695" "{PMID:Consugar 2015:25412400}" "" "" "?" "United States" "" "0" "" "" "" "OGI-022-055"
"00368973" "" "" "" "1" "" "01695" "{PMID:Consugar 2015:25412400}" "" "" "?" "United States" "" "0" "" "" "" "OGI-389-844"
"00368974" "" "" "" "1" "" "01695" "{PMID:Consugar 2015:25412400}" "" "" "?" "United States" "" "0" "" "" "" "OGI-549-1123"
"00368975" "" "" "" "1" "" "01695" "{PMID:Consugar 2015:25412400}" "" "" "?" "United States" "" "0" "" "" "" "OGI-101-253"
"00368976" "" "" "" "1" "" "01695" "{PMID:Liu 2015:25611614}" "a brother and sister are affected as well" "M" "?" "China" "" "0" "" "" "China" "RH4-II:6"
"00368977" "" "" "" "1" "" "01695" "{PMID:van Huet 2015:25999674}" "" "" "?" "Netherlands" "" "0" "" "" "" "Unknown 1149"
"00368978" "" "" "" "1" "" "01695" "{PMID:van Huet 2015:25999674}" "" "" "?" "Netherlands" "" "0" "" "" "" "Unknown 1150"
"00368979" "" "" "" "1" "" "01695" "{PMID:van Huet 2015:25999674}" "" "" "?" "Netherlands" "" "0" "" "" "" "Unknown 1151"
"00368980" "" "" "" "1" "" "01695" "{PMID:van Huet 2015:25999674}" "" "" "?" "Netherlands" "" "0" "" "" "" "Unknown 1152"
"00368981" "" "" "" "1" "" "01695" "{PMID:Patel 2016:26355662}" "" "" "?" "Saudi Arabia" "" "0" "" "" "" "09DG00134"
"00368982" "" "" "" "1" "" "01695" "{PMID:Patel 2016:26355662}" "" "" "?" "Saudi Arabia" "" "0" "" "" "" "09DG00145"
"00368983" "" "" "" "1" "" "01695" "{PMID:Patel 2016:26355662}" "" "" "?" "Saudi Arabia" "" "0" "" "" "" "09DG00194"
"00368984" "" "" "" "1" "" "01695" "{PMID:Patel 2016:26355662}" "" "" "?" "Saudi Arabia" "" "0" "" "" "" "09DG00495"
"00368985" "" "" "" "1" "" "01695" "{PMID:Patel 2016:26355662}" "" "" "?" "Saudi Arabia" "" "0" "" "" "" "10DG1130"
"00368986" "" "" "" "1" "" "01695" "{PMID:Patel 2016:26355662}" "" "" "?" "Saudi Arabia" "" "0" "" "" "" "11DG1072"
"00368987" "" "" "" "1" "" "01695" "{PMID:Patel 2016:26355662}" "" "" "?" "Saudi Arabia" "" "0" "" "" "" "11DG1597"
"00368988" "" "" "" "1" "" "01695" "{PMID:Patel 2016:26355662}" "" "" "?" "Saudi Arabia" "" "0" "" "" "" "11DG2106"
"00368989" "" "" "" "1" "" "01695" "{PMID:Patel 2016:26355662}" "" "" "?" "Saudi Arabia" "" "0" "" "" "" "12DG1654"
"00368990" "" "" "" "1" "" "01695" "{PMID:Patel 2016:26355662}" "" "" "?" "Saudi Arabia" "" "0" "" "" "" "13DG0004"
"00368991" "" "" "" "1" "" "01695" "{PMID:Patel 2016:26355662}" "" "" "?" "Saudi Arabia" "" "0" "" "" "" "13DG0134"
"00368992" "" "" "" "1" "" "01695" "{PMID:Patel 2016:26355662}" "" "" "?" "Saudi Arabia" "" "0" "" "" "" "13DG2102"
"00368993" "" "" "" "1" "" "01695" "{PMID:Patel 2016:26355662}" "" "" "?" "Saudi Arabia" "" "0" "" "" "" "14DG1896"
"00368994" "" "" "" "1" "" "01695" "{PMID:Retterer 2016:26633542}" "mutations were reported seperately, unknown if mono-allelic or bi-allelic" "" "?" "United States" "" "0" "" "" "" "Unknown 1153"
"00368995" "" "" "" "1" "" "01695" "{PMID:Retterer 2016:26633542}" "mutations were reported seperately, unknown if mono-allelic or bi-allelic" "" "?" "United States" "" "0" "" "" "" "Unknown 1154"
"00368996" "" "" "" "1" "" "01695" "{PMID:Retterer 2016:26633542}" "mutations were reported seperately, unknown if mono-allelic or bi-allelic" "" "?" "United States" "" "0" "" "" "" "Unknown 1155"
"00368997" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2016:26766544}" "" "" "?" "" "" "0" "" "" "" "CACD25"
"00368998" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2016:26766544}" "" "" "?" "" "" "0" "" "" "" "MST177"
"00368999" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2016:26766544}" "" "" "?" "" "" "0" "" "" "" "ZD345"
"00369000" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2016:26766544}" "" "" "?" "" "" "0" "" "" "" "ZD410"
"00369001" "" "" "" "1" "" "01695" "{PMID:Abouelhoda 2016:27124789}" "mutations were not reported per patient. It is unknown if they were found bi-allelicly or mono-allecly" "" "?" "Saudi Arabia" "" "0" "" "" "" "Unknown 1156"
"00369002" "" "" "" "1" "" "01695" "{PMID:Abouelhoda 2016:27124789}" "mutations were not reported per patient. It is unknown if they were found bi-allelicly or mono-allecly" "" "?" "Saudi Arabia" "" "0" "" "" "" "Unknown 1157"
"00369003" "" "" "" "1" "" "01695" "{PMID:Abouelhoda 2016:27124789}" "mutations were not reported per patient. It is unknown if they were found bi-allelicly or mono-allecly" "" "?" "Saudi Arabia" "" "0" "" "" "" "Unknown 1158"
"00369004" "" "" "" "1" "" "01695" "{PMID:Abouelhoda 2016:27124789}" "mutations were not reported per patient. It is unknown if they were found bi-allelicly or mono-allecly" "" "?" "Saudi Arabia" "" "0" "" "" "" "Unknown 1159"
"00369005" "" "" "" "1" "" "01695" "{PMID:Abouelhoda 2016:27124789}" "mutations were not reported per patient. It is unknown if they were found bi-allelicly or mono-allecly" "" "?" "Saudi Arabia" "" "0" "" "" "" "Unknown 1160"
"00369006" "" "" "" "1" "" "01695" "{PMID:Abouelhoda 2016:27124789}" "mutations were not reported per patient. It is unknown if they were found bi-allelicly or mono-allecly" "" "?" "Saudi Arabia" "" "0" "" "" "" "Unknown 1161"
"00369007" "" "" "" "1" "" "01695" "{PMID:Abouelhoda 2016:27124789}" "mutations were not reported per patient. It is unknown if they were found bi-allelicly or mono-allecly" "" "?" "Saudi Arabia" "" "0" "" "" "" "Unknown 1162"
"00369008" "" "" "" "1" "" "01695" "{PMID:Abouelhoda 2016:27124789}" "mutations were not reported per patient. It is unknown if they were found bi-allelicly or mono-allecly" "" "?" "Saudi Arabia" "" "0" "" "" "" "Unknown 1163"
"00369009" "" "" "" "1" "" "01695" "{PMID:Ellingford 2016:27208204}" "" "" "?" "" "" "0" "" "" "" "82863"
"00369010" "" "" "" "1" "" "01695" "{PMID:Ellingford 2016:27208204}" "" "" "?" "" "" "0" "" "" "" "990697"
"00369011" "" "" "" "1" "" "01695" "{PMID:Ellingford 2016:27208204}" "" "" "?" "" "" "0" "" "" "" "11011507"
"00369012" "" "" "" "1" "" "01695" "{PMID:Ellingford 2016:27208204}" "" "" "?" "" "" "0" "" "" "" "12001090"
"00369013" "" "" "" "1" "" "01695" "{PMID:Ellingford 2016:27208204}" "" "" "?" "" "" "0" "" "" "" "12004145"
"00369014" "" "" "" "1" "" "01695" "{PMID:Ellingford 2016:27208204}" "" "" "?" "" "" "0" "" "" "" "12005906"
"00369015" "" "" "" "1" "" "01695" "{PMID:Ellingford 2016:27208204}" "" "" "?" "" "" "0" "" "" "" "12007398"
"00369016" "" "" "" "1" "" "01695" "{PMID:Ellingford 2016:27208204}" "" "" "?" "" "" "0" "" "" "" "12008814"
"00369017" "" "" "" "1" "" "01695" "{PMID:Ellingford 2016:27208204}" "" "" "?" "" "" "0" "" "" "" "12016035"
"00369018" "" "" "" "1" "" "01695" "{PMID:Ellingford 2016:27208204}" "" "" "?" "" "" "0" "" "" "" "13001831"
"00369019" "" "" "" "1" "" "01695" "{PMID:Ellingford 2016:27208204}" "" "" "?" "" "" "0" "" "" "" "13002608"
"00369020" "" "" "" "1" "" "01695" "{PMID:Ellingford 2016:27208204}" "" "" "?" "" "" "0" "" "" "" "13007236"
"00369021" "" "" "" "1" "" "01695" "{PMID:Ellingford 2016:27208204}" "" "" "?" "" "" "0" "" "" "" "13010483"
"00369022" "" "" "" "1" "" "01695" "{PMID:Ellingford 2016:27208204}" "" "" "?" "" "" "0" "" "" "" "13012365"
"00369023" "" "" "" "1" "" "01695" "{PMID:Ellingford 2016:27208204}" "" "" "?" "" "" "0" "" "" "" "13012619"
"00369024" "" "" "" "1" "" "01695" "{PMID:Ellingford 2016:27208204}" "" "" "?" "" "" "0" "" "" "" "13013461"
"00369025" "" "" "" "1" "" "01695" "{PMID:Ellingford 2016:27208204}" "" "" "?" "" "" "0" "" "" "" "13013879"
"00369026" "" "" "" "1" "" "01695" "{PMID:Ellingford 2016:27208204}" "" "" "?" "" "" "0" "" "" "" "13014675"
"00369027" "" "" "" "1" "" "01695" "{PMID:Ellingford 2016:27208204}" "" "" "?" "" "" "0" "" "" "" "13015639"
"00369028" "" "" "" "1" "" "01695" "{PMID:Ellingford 2016:27208204}" "" "" "?" "" "" "0" "" "" "" "13015690"
"00369029" "" "" "" "1" "" "01695" "{PMID:Tiwari 2016:27353947}" "" "M" "?" "Switzerland" "" "0" "" "" "" "71134"
"00369030" "" "" "" "1" "" "01695" "{PMID:Tiwari 2016:27353947}" "" "F" "?" "Switzerland" "" "0" "" "" "" "71472"
"00369031" "" "" "" "1" "" "01695" "{PMID:Tiwari 2016:27353947}" "" "M" "?" "Switzerland" "" "0" "" "" "" "71522"
"00369032" "" "" "" "1" "" "01695" "{PMID:Tiwari 2016:27353947}" "" "F" "?" "Switzerland" "" "0" "" "" "" "71674"
"00369033" "" "" "" "1" "" "01695" "{PMID:Tiwari 2016:27353947}" "" "F" "?" "Switzerland" "" "0" "" "" "" "71876"
"00369034" "" "" "" "1" "" "01695" "{PMID:Tiwari 2016:27353947}" "" "F" "?" "Switzerland" "" "0" "" "" "" "71927"
"00369035" "" "" "" "1" "" "01695" "{PMID:Tiwari 2016:27353947}" "" "M" "?" "Switzerland" "" "0" "" "" "" "71882"
"00369036" "" "" "" "1" "" "01695" "{PMID:Zhang 2016:27596865}" "" "M" "?" "United States" "" "0" "" "" "Hispanic" "BLM029"
"00369037" "" "" "" "1" "" "01695" "{PMID:de Castro-Miró 2016:28005958}" "" "" "?" "Spain" "" "0" "" "" "" "77ORG"
"00369038" "" "" "" "1" "" "01695" "{PMID:Carss 2017:28041643}" "" "M" "?" "England" "" "0" "" "" "" "B240012"
"00369039" "" "" "" "1" "" "01695" "{PMID:Carss 2017:28041643}" "" "M" "?" "England" "" "0" "" "" "" "B240019"
"00369040" "" "" "" "1" "" "01695" "{PMID:Carss 2017:28041643}" "" "M" "?" "England" "" "0" "" "" "" "B240026"
"00369041" "" "" "" "1" "" "01695" "{PMID:Carss 2017:28041643}" "" "F" "?" "England" "" "0" "" "" "" "B240094"
"00369042" "" "" "" "1" "" "01695" "{PMID:Carss 2017:28041643}" "" "M" "?" "England" "" "0" "" "" "" "B240250"
"00369043" "" "" "" "1" "" "01695" "{PMID:Carss 2017:28041643}" "" "M" "?" "England" "" "0" "" "" "white" "G000984"
"00369044" "" "" "" "1" "" "01695" "{PMID:Carss 2017:28041643}" "" "M" "?" "England" "" "0" "" "" "Africa" "G001049"
"00369045" "" "" "" "1" "" "01695" "{PMID:Carss 2017:28041643}" "" "F" "?" "England" "" "0" "" "" "Africa" "G001289"
"00369046" "" "" "" "1" "" "01695" "{PMID:Carss 2017:28041643}" "" "F" "?" "England" "" "0" "" "" "white" "G001330"
"00369047" "" "" "" "1" "" "01695" "{PMID:Carss 2017:28041643}" "" "F" "?" "England" "" "0" "" "" "Asia-S" "G001369"
"00369048" "" "" "" "1" "" "01695" "{PMID:Carss 2017:28041643}" "" "M" "?" "England" "" "0" "" "" "white" "G001403"
"00369049" "" "" "" "1" "" "01695" "{PMID:Carss 2017:28041643}" "" "M" "?" "England" "" "0" "" "" "white" "G001416"
"00369050" "" "" "" "1" "" "01695" "{PMID:Carss 2017:28041643}" "" "M" "?" "England" "" "0" "" "" "white" "G001419"
"00369051" "" "" "" "1" "" "01695" "{PMID:Carss 2017:28041643}" "" "M" "?" "England" "" "0" "" "" "Africa" "G001433"
"00369052" "" "" "" "1" "" "01695" "{PMID:Carss 2017:28041643}" "" "F" "?" "England" "" "0" "" "" "Asia-S" "G004709"
"00369053" "" "" "" "1" "" "01695" "{PMID:Carss 2017:28041643}" "" "M" "?" "England" "" "0" "" "" "Asia-S" "G004710"
"00369054" "" "" "" "1" "" "01695" "{PMID:Carss 2017:28041643}" "" "M" "?" "England" "" "0" "" "" "white" "G004717"
"00369055" "" "" "" "1" "" "01695" "{PMID:Carss 2017:28041643}" "" "M" "?" "England" "" "0" "" "" "Asia-S" "G004996"
"00369056" "" "" "" "1" "" "01695" "{PMID:Carss 2017:28041643}" "" "F" "?" "England" "" "0" "" "" "white" "G005205"
"00369057" "" "" "" "1" "" "01695" "{PMID:Carss 2017:28041643}" "" "M" "?" "England" "" "0" "" "" "white" "G005226"
"00369058" "" "" "" "1" "" "01695" "{PMID:Carss 2017:28041643}" "" "M" "?" "England" "" "0" "" "" "white" "G005234"
"00369059" "" "" "" "1" "" "01695" "{PMID:Carss 2017:28041643}" "" "M" "?" "England" "" "0" "" "" "white" "G005248"
"00369060" "" "" "" "1" "" "01695" "{PMID:Carss 2017:28041643}" "" "M" "?" "England" "" "0" "" "" "white" "G005494"
"00369061" "" "" "" "1" "" "01695" "{PMID:Carss 2017:28041643}" "" "M" "?" "England" "" "0" "" "" "white" "G005506"
"00369062" "" "" "" "1" "" "01695" "{PMID:Carss 2017:28041643}" "" "F" "?" "England" "" "0" "" "" "white" "G005993"
"00369063" "" "" "" "1" "" "01695" "{PMID:Carss 2017:28041643}" "" "M" "?" "England" "" "0" "" "" "white" "G006002"
"00369064" "" "" "" "1" "" "01695" "{PMID:Carss 2017:28041643}" "" "F" "?" "England" "" "0" "" "" "white" "G007675"
"00369065" "" "" "" "1" "" "01695" "{PMID:Carss 2017:28041643}" "" "F" "?" "England" "" "0" "" "" "white" "G007676"
"00369066" "" "" "" "1" "" "01695" "{PMID:Carss 2017:28041643}" "" "M" "?" "England" "" "0" "" "" "Africa" "G007677"
"00369067" "" "" "" "1" "" "01695" "{PMID:Carss 2017:28041643}" "" "M" "?" "England" "" "0" "" "" "white" "G007680"
"00369068" "" "" "" "1" "" "01695" "{PMID:Carss 2017:28041643}" "" "M" "?" "England" "" "0" "" "" "white" "G007681"
"00369069" "" "" "" "1" "" "01695" "{PMID:Carss 2017:28041643}" "" "F" "?" "England" "" "0" "" "" "white" "G007682"
"00369070" "" "" "" "1" "" "01695" "{PMID:Carss 2017:28041643}" "" "M" "?" "England" "" "0" "" "" "white" "G007697"
"00369071" "" "" "" "1" "" "01695" "{PMID:Carss 2017:28041643}" "" "F" "?" "England" "" "0" "" "" "white" "G007698"
"00369072" "" "" "" "1" "" "01695" "{PMID:Carss 2017:28041643}" "" "M" "?" "England" "" "0" "" "" "Asia-S" "G007710"
"00369073" "" "" "" "1" "" "01695" "{PMID:Carss 2017:28041643}" "" "F" "?" "England" "" "0" "" "" "white" "G007712"
"00369074" "" "" "" "1" "" "01695" "{PMID:Carss 2017:28041643}" "" "F" "?" "England" "" "0" "" "" "white" "G007715"
"00369075" "" "" "" "1" "" "01695" "{PMID:Carss 2017:28041643}" "" "F" "?" "England" "" "0" "" "" "white" "G007717"
"00369076" "" "" "" "1" "" "01695" "{PMID:Carss 2017:28041643}" "" "F" "?" "England" "" "0" "" "" "white" "G007718"
"00369077" "" "" "" "1" "" "01695" "{PMID:Carss 2017:28041643}" "" "M" "?" "England" "" "0" "" "" "white" "G007721"
"00369078" "" "" "" "1" "" "01695" "{PMID:Carss 2017:28041643}" "" "M" "?" "England" "" "0" "" "" "white" "G007729"
"00369079" "" "" "" "1" "" "01695" "{PMID:Carss 2017:28041643}" "" "M" "?" "England" "" "0" "" "" "white" "G007730"
"00369080" "" "" "" "1" "" "01695" "{PMID:Carss 2017:28041643}" "" "M" "?" "England" "" "0" "" "" "white" "G007731"
"00369081" "" "" "" "1" "" "01695" "{PMID:Carss 2017:28041643}" "" "M" "?" "England" "" "0" "" "" "white" "G007736"
"00369082" "" "" "" "1" "" "01695" "{PMID:Carss 2017:28041643}" "" "F" "?" "England" "" "0" "" "" "white" "G007747"
"00369083" "" "" "" "1" "" "01695" "{PMID:Carss 2017:28041643}" "" "M" "?" "England" "" "0" "" "" "white" "G007753"
"00369084" "" "" "" "1" "" "01695" "{PMID:Carss 2017:28041643}" "" "F" "?" "England" "" "0" "" "" "white" "G007754"
"00369085" "" "" "" "1" "" "01695" "{PMID:Carss 2017:28041643}" "" "M" "?" "England" "" "0" "" "" "Asia-S" "G007755"
"00369086" "" "" "" "1" "" "01695" "{PMID:Carss 2017:28041643}" "" "M" "?" "England" "" "0" "" "" "white" "G007756"
"00369087" "" "" "" "1" "" "01695" "{PMID:Carss 2017:28041643}" "" "M" "?" "England" "" "0" "" "" "Asia-S" "G007758"
"00369088" "" "" "" "1" "" "01695" "{PMID:Carss 2017:28041643}" "" "M" "?" "England" "" "0" "" "" "white" "G008143"
"00369089" "" "" "" "1" "" "01695" "{PMID:Carss 2017:28041643}" "" "F" "?" "England" "" "0" "" "" "Africa" "G008144"
"00369090" "" "" "" "1" "" "01695" "{PMID:Carss 2017:28041643}" "" "M" "?" "England" "" "0" "" "" "white" "G008146"
"00369091" "" "" "" "1" "" "01695" "{PMID:Carss 2017:28041643}" "" "M" "?" "England" "" "0" "" "" "white" "G008147"
"00369092" "" "" "" "1" "" "01695" "{PMID:Carss 2017:28041643}" "" "F" "?" "England" "" "0" "" "" "white" "G008161"
"00369093" "" "" "" "1" "" "01695" "{PMID:Carss 2017:28041643}" "" "F" "?" "England" "" "0" "" "" "white" "G008164"
"00369094" "" "" "" "1" "" "01695" "{PMID:Carss 2017:28041643}" "" "F" "?" "England" "" "0" "" "" "white" "G008165"
"00369095" "" "" "" "1" "" "01695" "{PMID:Carss 2017:28041643}" "" "M" "?" "England" "" "0" "" "" "white" "G008168"
"00369096" "" "" "" "1" "" "01695" "{PMID:Carss 2017:28041643}" "" "M" "?" "England" "" "0" "" "" "white" "G008169"
"00369097" "" "" "" "1" "" "01695" "{PMID:Carss 2017:28041643}" "" "M" "?" "England" "" "0" "" "" "Ad Mixed American" "G009824"
"00369098" "" "" "" "1" "" "01695" "{PMID:Carss 2017:28041643}" "" "F" "?" "England" "" "0" "" "" "white" "G009828"
"00369099" "" "" "" "1" "" "01695" "{PMID:Carss 2017:28041643}" "" "F" "?" "England" "" "0" "" "" "white" "G009834"
"00369100" "" "" "" "1" "" "01695" "{PMID:Carss 2017:28041643}" "" "M" "?" "England" "" "0" "" "" "Africa" "G009835"
"00369101" "" "" "" "1" "" "01695" "{PMID:Carss 2017:28041643}" "" "M" "?" "England" "" "0" "" "" "white" "G009845"
"00369102" "" "" "" "1" "" "01695" "{PMID:Carss 2017:28041643}" "" "M" "?" "England" "" "0" "" "" "Africa" "G009850"
"00369103" "" "" "" "1" "" "01695" "{PMID:Carss 2017:28041643}" "" "F" "?" "England" "" "0" "" "" "white" "G009851"
"00369104" "" "" "" "1" "" "01695" "{PMID:Carss 2017:28041643}" "" "M" "?" "England" "" "0" "" "" "Africa" "W000142"
"00369105" "" "" "" "1" "" "01695" "{PMID:Carss 2017:28041643}" "" "F" "?" "England" "" "0" "" "" "white" "W000144"
"00369106" "" "" "" "1" "" "01695" "{PMID:Carss 2017:28041643}" "" "F" "?" "England" "" "0" "" "" "white" "W000178"
"00369107" "" "" "" "1" "" "01695" "{PMID:Carss 2017:28041643}" "" "M" "?" "England" "" "0" "" "" "white" "W000186"
"00369108" "" "" "" "1" "" "01695" "{PMID:Carss 2017:28041643}" "" "M" "?" "England" "" "0" "" "" "Asia-S" "W000187"
"00369109" "" "" "" "1" "" "01695" "{PMID:Carss 2017:28041643}" "" "M" "?" "England" "" "0" "" "" "white" "W000368"
"00369110" "" "" "" "1" "" "01695" "{PMID:Carss 2017:28041643}" "" "M" "?" "England" "" "0" "" "" "white" "W000380"
"00369111" "" "" "" "1" "" "01695" "{PMID:Bernardis 2016:28127548}" "" "" "?" "Italy" "" "0" "" "" "" "IRD027"
"00369112" "" "" "" "1" "" "01695" "{PMID:Bernardis 2016:28127548}" "" "" "?" "Italy" "" "0" "" "" "" "IRD036"
"00369113" "" "" "" "1" "" "01695" "{PMID:Bernardis 2016:28127548}" "" "" "?" "Italy" "" "0" "" "" "" "IRD037"
"00369114" "" "" "" "1" "" "01695" "{PMID:Bernardis 2016:28127548}" "" "" "?" "Italy" "" "0" "" "" "" "IRD042"
"00369115" "" "" "" "1" "" "01695" "{PMID:Bernardis 2016:28127548}" "" "" "?" "Italy" "" "0" "" "" "" "IRD043"
"00369116" "" "" "" "1" "" "01695" "{PMID:Bernardis 2016:28127548}" "" "" "?" "Italy" "" "0" "" "" "" "IRD050"
"00369117" "" "" "" "1" "" "01695" "{PMID:Bernardis 2016:28127548}" "" "" "?" "Italy" "" "0" "" "" "" "IRD054"
"00369118" "" "" "" "1" "" "01695" "{PMID:Bernardis 2016:28127548}" "" "" "?" "Italy" "" "0" "" "" "" "IRD055"
"00369119" "" "" "" "1" "" "01695" "{PMID:Bernardis 2016:28127548}" "" "" "?" "Italy" "" "0" "" "" "" "IRD061"
"00369120" "" "" "" "1" "" "01695" "{PMID:Bernardis 2016:28127548}" "" "" "?" "Italy" "" "0" "" "" "" "IRD062"
"00369121" "" "" "" "1" "" "01695" "{PMID:Bernardis 2016:28127548}" "" "" "?" "Italy" "" "0" "" "" "" "IRD073"
"00369122" "" "" "" "1" "" "01695" "{PMID:Bernardis 2016:28127548}" "" "" "?" "Italy" "" "0" "" "" "" "IRD077"
"00369123" "" "" "" "1" "" "01695" "{PMID:Haer-Wigman 2017:28224992}" "" "" "?" "Netherlands" "" "0" "" "" "" "889"
"00369124" "" "" "" "1" "" "01695" "{PMID:Haer-Wigman 2017:28224992}" "" "" "?" "Netherlands" "" "0" "" "" "" "1426"
"00369125" "" "" "" "1" "" "01695" "{PMID:Haer-Wigman 2017:28224992}" "" "" "?" "Netherlands" "" "0" "" "" "" "3338"
"00369126" "" "" "" "1" "" "01695" "{PMID:Haer-Wigman 2017:28224992}" "" "" "?" "Netherlands" "" "0" "" "" "" "3362"
"00369127" "" "" "" "1" "" "01695" "{PMID:Haer-Wigman 2017:28224992}" "" "" "?" "Netherlands" "" "0" "" "" "" "3850"
"00369128" "" "" "" "1" "" "01695" "{PMID:Haer-Wigman 2017:28224992}" "" "" "?" "Netherlands" "" "0" "" "" "" "4182"
"00369129" "" "" "" "1" "" "01695" "{PMID:Haer-Wigman 2017:28224992}" "" "" "?" "Netherlands" "" "0" "" "" "" "4459"
"00369130" "" "" "" "1" "" "01695" "{PMID:Haer-Wigman 2017:28224992}" "" "" "?" "Netherlands" "" "0" "" "" "" "7762"
"00369131" "" "" "" "1" "" "01695" "{PMID:Haer-Wigman 2017:28224992}" "" "" "?" "Netherlands" "" "0" "" "" "" "8190"
"00369132" "" "" "" "1" "" "01695" "{PMID:Huang 2017:28512305}" "" "" "?" "China" "" "0" "" "" "China" "RP-047"
"00369133" "" "" "" "1" "" "01695" "{PMID:Huang 2017:28512305}" "" "" "?" "China" "" "0" "" "" "China" "RP-070"
"00369134" "" "" "" "1" "" "01695" "{PMID:Huang 2017:28512305}" "" "" "?" "China" "" "0" "" "" "China" "RP-134"
"00369135" "" "" "" "1" "" "01695" "{PMID:Bryant 2017:29343940}" "" "" "?" "United States" "" "0" "" "" "" "JB16"
"00369136" "" "" "" "1" "" "01695" "{PMID:Bryant 2017:29343940}" "" "" "?" "United States" "" "0" "" "" "" "JB260"
"00369137" "" "" "" "1" "" "01695" "{PMID:Bryant 2017:29343940}" "" "" "?" "United States" "" "0" "" "" "" "JB320"
"00369138" "" "" "" "1" "" "01695" "{PMID:Bryant 2017:29343940}" "" "" "?" "United States" "" "0" "" "" "" "JB333"
"00369139" "" "" "" "1" "" "01695" "{PMID:Bryant 2017:29343940}" "" "" "?" "United States" "" "0" "" "" "" "JB358"
"00369140" "" "" "" "1" "" "01695" "{PMID:Huang 2018:29641573}" "" "" "?" "" "" "0" "" "" "" "RP028"
"00369141" "" "" "" "1" "" "01695" "{PMID:Huang 2018:29641573}" "" "" "?" "" "" "0" "" "" "" "RP048"
"00369142" "" "" "" "1" "" "01695" "{PMID:Huang 2018:29641573}" "" "" "?" "" "" "0" "" "" "" "RP049"
"00369143" "" "" "" "1" "" "01695" "{PMID:Huang 2018:29641573}" "" "" "?" "" "" "0" "" "" "" "RP074"
"00369144" "" "" "" "1" "" "01695" "{PMID:Huang 2018:29641573}" "" "" "?" "" "" "0" "" "" "" "RP077"
"00369145" "" "" "" "1" "" "01695" "{PMID:Huang 2018:29641573}" "" "" "?" "" "" "0" "" "" "" "RP100"
"00369146" "" "" "" "1" "" "01695" "{PMID:Hanany 2018:29706639}" "" "" "?" "Israel" "" "0" "" "" "Jewish-Ashkenazi" "Unknown 1164"
"00369147" "" "" "" "1" "" "01695" "{PMID:Hanany 2018:29706639}" "" "" "?" "Israel" "" "0" "" "" "" "Unknown 1165"
"00369148" "" "" "" "1" "" "01695" "{PMID:Hanany 2018:29706639}" "mutations were not reported per patient, so a second mutation might be present" "" "?" "Israel" "" "0" "" "" "" "Unknown 1166"
"00369149" "" "" "" "1" "" "01695" "{PMID:Hanany 2018:29706639}" "mutations were not reported per patient, so a second mutation might be present" "" "?" "Israel" "" "0" "" "" "" "Unknown 1167"
"00369150" "" "" "" "1" "" "01695" "{PMID:Hanany 2018:29706639}" "mutations were not reported per patient, so a second mutation might be present" "" "?" "Israel" "" "0" "" "" "" "Unknown 1168"
"00369151" "" "" "" "1" "" "01695" "{PMID:Hanany 2018:29706639}" "mutations were not reported per patient, so a second mutation might be present" "" "?" "Israel" "" "0" "" "" "" "Unknown 1169"
"00369152" "" "" "" "1" "" "01695" "{PMID:Hanany 2018:29706639}" "mutations were not reported per patient, so a second mutation might be present" "" "?" "Israel" "" "0" "" "" "" "Unknown 1170"
"00369153" "" "" "" "1" "" "01695" "{PMID:Hanany 2018:29706639}" "mutations were not reported per patient, so a second mutation might be present" "" "?" "Israel" "" "0" "" "" "" "Unknown 1171"
"00369154" "" "" "" "1" "" "01695" "{PMID:Hanany 2018:29706639}" "mutations were not reported per patient, so a second mutation might be present" "" "?" "Israel" "" "0" "" "" "" "Unknown 1172"
"00369155" "" "" "" "1" "" "01695" "{PMID:Hanany 2018:29706639}" "mutations were not reported per patient, so a second mutation might be present" "" "?" "Israel" "" "0" "" "" "" "Unknown 1173"
"00369156" "" "" "" "1" "" "01695" "{PMID:Hanany 2018:29706639}" "mutations were not reported per patient, so a second mutation might be present" "" "?" "Israel" "" "0" "" "" "" "Unknown 1174"
"00369157" "" "" "" "1" "" "01695" "{PMID:Hanany 2018:29706639}" "mutations were not reported per patient, so a second mutation might be present" "" "?" "Israel" "" "0" "" "" "" "Unknown 1175"
"00369158" "" "" "" "1" "" "01695" "{PMID:Hanany 2018:29706639}" "mutations were not reported per patient, so a second mutation might be present" "" "?" "Israel" "" "0" "" "" "" "Unknown 1176"
"00369159" "" "" "" "1" "" "01695" "{PMID:Hanany 2018:29706639}" "mutations were not reported per patient, so a second mutation might be present" "" "?" "Israel" "" "0" "" "" "" "Unknown 1177"
"00369160" "" "" "" "1" "" "01695" "{PMID:Hanany 2018:29706639}" "mutations were not reported per patient, so a second mutation might be present" "" "?" "Israel" "" "0" "" "" "" "Unknown 1178"
"00369161" "" "" "" "1" "" "01695" "{PMID:Hanany 2018:29706639}" "mutations were not reported per patient, so a second mutation might be present" "" "?" "Israel" "" "0" "" "" "" "Unknown 1179"
"00369162" "" "" "" "1" "" "01695" "{PMID:Hanany 2018:29706639}" "mutations were not reported per patient, so a second mutation might be present" "" "?" "Israel" "" "0" "" "" "" "Unknown 1180"
"00369163" "" "" "" "1" "" "01695" "{PMID:Hanany 2018:29706639}" "mutations were not reported per patient, so a second mutation might be present" "" "?" "Israel" "" "0" "" "" "" "Unknown 1181"
"00369164" "" "" "" "1" "" "01695" "{PMID:Hanany 2018:29706639}" "mutations were not reported per patient, so a second mutation might be present" "" "?" "Israel" "" "0" "" "" "" "Unknown 1182"
"00369165" "" "" "" "1" "" "01695" "{PMID:Hanany 2018:29706639}" "mutations were not reported per patient, so a second mutation might be present" "" "?" "Israel" "" "0" "" "" "" "Unknown 1183"
"00369166" "" "" "" "1" "" "01695" "{PMID:Hanany 2018:29706639}" "mutations were not reported per patient, so a second mutation might be present" "" "?" "Israel" "" "0" "" "" "" "Unknown 1184"
"00369167" "" "" "" "1" "" "01695" "{PMID:Hanany 2018:29706639}" "mutations were not reported per patient, so a second mutation might be present" "" "?" "Israel" "" "0" "" "" "" "Unknown 1185"
"00369168" "" "" "" "1" "" "01695" "{PMID:Hanany 2018:29706639}" "mutations were not reported per patient, so a second mutation might be present" "" "?" "Israel" "" "0" "" "" "" "Unknown 1186"
"00369169" "" "" "" "1" "" "01695" "{PMID:Hanany 2018:29706639}" "mutations were not reported per patient, so a second mutation might be present" "" "?" "Israel" "" "0" "" "" "" "Unknown 1187"
"00369170" "" "" "" "1" "" "01695" "{PMID:Hanany 2018:29706639}" "mutations were not reported per patient, so a second mutation might be present" "" "?" "Israel" "" "0" "" "" "" "Unknown 1188"
"00369171" "" "" "" "1" "" "01695" "{PMID:Hanany 2018:29706639}" "mutations were not reported per patient, so a second mutation might be present" "" "?" "Israel" "" "0" "" "" "" "Unknown 1189"
"00369172" "" "" "" "1" "" "01695" "{PMID:Hanany 2018:29706639}" "mutations were not reported per patient, so a second mutation might be present" "" "?" "Israel" "" "0" "" "" "" "Unknown 1190"
"00369173" "" "" "" "1" "" "01695" "{PMID:Hanany 2018:29706639}" "mutations were not reported per patient, so a second mutation might be present" "" "?" "Israel" "" "0" "" "" "" "Unknown 1191"
"00369174" "" "" "" "1" "" "01695" "{PMID:Hanany 2018:29706639}" "mutations were not reported per patient, so a second mutation might be present" "" "?" "Israel" "" "0" "" "" "" "Unknown 1192"
"00369175" "" "" "" "1" "" "01695" "{PMID:Hanany 2018:29706639}" "mutations were not reported per patient, so a second mutation might be present" "" "?" "Israel" "" "0" "" "" "" "Unknown 1193"
"00369176" "" "" "" "1" "" "01695" "{PMID:Hanany 2018:29706639}" "mutations were not reported per patient, so a second mutation might be present" "" "?" "Israel" "" "0" "" "" "" "Unknown 1194"
"00369177" "" "" "" "1" "" "01695" "{PMID:Hanany 2018:29706639}" "mutations were not reported per patient, so a second mutation might be present" "" "?" "Israel" "" "0" "" "" "" "Unknown 1195"
"00369178" "" "" "" "1" "" "01695" "{PMID:Hanany 2018:29706639}" "mutations were not reported per patient, so a second mutation might be present" "" "?" "Israel" "" "0" "" "" "" "Unknown 1196"
"00369179" "" "" "" "1" "" "01695" "{PMID:Hanany 2018:29706639}" "mutations were not reported per patient, so a second mutation might be present" "" "?" "Israel" "" "0" "" "" "" "Unknown 1197"
"00369180" "" "" "" "1" "" "01695" "{PMID:Hanany 2018:29706639}" "mutations were not reported per patient, so a second mutation might be present" "" "?" "Israel" "" "0" "" "" "" "Unknown 1198"
"00369181" "" "" "" "1" "" "01695" "{PMID:Hanany 2018:29706639}" "mutations were not reported per patient, so a second mutation might be present" "" "?" "Israel" "" "0" "" "" "" "Unknown 1199"
"00369182" "" "" "" "1" "" "01695" "{PMID:Hanany 2018:29706639}" "mutations were not reported per patient, so a second mutation might be present" "" "?" "Israel" "" "0" "" "" "" "Unknown 1200"
"00369183" "" "" "" "1" "" "01695" "{PMID:Hanany 2018:29706639}" "mutations were not reported per patient, so a second mutation might be present" "" "?" "Israel" "" "0" "" "" "" "Unknown 1201"
"00369184" "" "" "" "1" "" "01695" "{PMID:Hanany 2018:29706639}" "mutations were not reported per patient, so a second mutation might be present" "" "?" "Israel" "" "0" "" "" "" "Unknown 1202"
"00369185" "" "" "" "1" "" "01695" "{PMID:Hanany 2018:29706639}" "mutations were not reported per patient, so a second mutation might be present" "" "?" "Israel" "" "0" "" "" "" "Unknown 1203"
"00369186" "" "" "" "1" "" "01695" "{PMID:Hanany 2018:29706639}" "mutations were not reported per patient, so a second mutation might be present" "" "?" "Israel" "" "0" "" "" "" "Unknown 1204"
"00369187" "" "" "" "1" "" "01695" "{PMID:Hanany 2018:29706639}" "mutations were not reported per patient, so a second mutation might be present" "" "?" "Israel" "" "0" "" "" "" "Unknown 1205"
"00369188" "" "" "" "1" "" "01695" "{PMID:Hanany 2018:29706639}" "mutations were not reported per patient, so a second mutation might be present" "" "?" "Israel" "" "0" "" "" "" "Unknown 1206"
"00369189" "" "" "" "1" "" "01695" "{PMID:Hanany 2018:29706639}" "mutations were not reported per patient, so a second mutation might be present" "" "?" "Israel" "" "0" "" "" "" "Unknown 1207"
"00369190" "" "" "" "1" "" "01695" "{PMID:Hanany 2018:29706639}" "mutations were not reported per patient, so a second mutation might be present" "" "?" "Israel" "" "0" "" "" "" "Unknown 1208"
"00369191" "" "" "" "1" "" "01695" "{PMID:Hanany 2018:29706639}" "mutations were not reported per patient, so a second mutation might be present" "" "?" "Israel" "" "0" "" "" "" "Unknown 1209"
"00369192" "" "" "" "1" "" "01695" "{PMID:Hanany 2018:29706639}" "mutations were not reported per patient, so a second mutation might be present" "" "?" "Israel" "" "0" "" "" "" "Unknown 1210"
"00369193" "" "" "" "1" "" "01695" "{PMID:Hanany 2018:29706639}" "mutations were not reported per patient, so a second mutation might be present" "" "?" "Israel" "" "0" "" "" "" "Unknown 1211"
"00369194" "" "" "" "1" "" "01695" "{PMID:Hanany 2018:29706639}" "mutations were not reported per patient, so a second mutation might be present" "" "?" "Israel" "" "0" "" "" "" "Unknown 1212"
"00369195" "" "" "" "1" "" "01695" "{PMID:Hanany 2018:29706639}" "mutations were not reported per patient, so a second mutation might be present" "" "?" "Israel" "" "0" "" "" "" "Unknown 1213"
"00369196" "" "" "" "1" "" "01695" "{PMID:Hanany 2018:29706639}" "mutations were not reported per patient, so a second mutation might be present" "" "?" "Israel" "" "0" "" "" "" "Unknown 1214"
"00369197" "" "" "" "1" "" "01695" "{PMID:Hanany 2018:29706639}" "mutations were not reported per patient, so a second mutation might be present" "" "?" "Israel" "" "0" "" "" "" "Unknown 1215"
"00369198" "" "" "" "1" "" "01695" "{PMID:Hanany 2018:29706639}" "mutations were not reported per patient, so a second mutation might be present" "" "?" "Israel" "" "0" "" "" "" "Unknown 1216"
"00369199" "" "" "" "1" "" "01695" "{PMID:Hanany 2018:29706639}" "mutations were not reported per patient, so a second mutation might be present" "" "?" "Israel" "" "0" "" "" "" "Unknown 1217"
"00369200" "" "" "" "1" "" "01695" "{PMID:Hanany 2018:29706639}" "mutations were not reported per patient, so a second mutation might be present" "" "?" "Israel" "" "0" "" "" "" "Unknown 1218"
"00369201" "" "" "" "1" "" "01695" "{PMID:Hanany 2018:29706639}" "mutations were not reported per patient, so a second mutation might be present" "" "?" "Israel" "" "0" "" "" "" "Unknown 1219"
"00369202" "" "" "" "1" "" "01695" "{PMID:Hanany 2018:29706639}" "mutations were not reported per patient, so a second mutation might be present" "" "?" "Israel" "" "0" "" "" "" "Unknown 1220"
"00369203" "" "" "" "1" "" "01695" "{PMID:Hanany 2018:29706639}" "mutations were not reported per patient, so a second mutation might be present" "" "?" "Israel" "" "0" "" "" "" "Unknown 1221"
"00369204" "" "" "" "1" "" "01695" "{PMID:Hanany 2018:29706639}" "mutations were not reported per patient, so a second mutation might be present" "" "?" "Israel" "" "0" "" "" "" "Unknown 1222"
"00369205" "" "" "" "1" "" "01695" "{PMID:Martin-Merida 2018:29847639}" "father of patient RP-1455 III:1" "M" "no" "Spain" "" "0" "" "" "" "RP-1455 II:2"
"00369206" "" "" "" "1" "" "01695" "{PMID:Martin-Merida 2018:29847639}" "son of patient RP-1455 II:2" "M" "no" "Spain" "" "0" "" "" "" "RP-1455 III:1"
"00369207" "" "" "" "1" "" "01695" "{PMID:Wang 2018:30029497}" "" "F" "?" "China" "" "0" "" "" "Han" "2016060107"
"00369208" "" "" "" "1" "" "01695" "{PMID:Wang 2018:30029497}" "" "F" "?" "China" "" "0" "" "" "Han" "2016060113"
"00369209" "" "" "" "1" "" "01695" "{PMID:Wang 2018:30029497}" "" "M" "?" "China" "" "0" "" "" "Han" "2016082408"
"00369210" "" "" "" "1" "" "01695" "{PMID:Wang 2018:30029497}" "" "M" "?" "China" "" "0" "" "" "Han" "2016112808"
"00369211" "" "" "" "1" "" "01695" "{PMID:Wang 2018:30029497}" "" "M" "?" "China" "" "0" "" "" "Han" "2017010406"
"00369212" "" "" "" "1" "" "01695" "{PMID:Patel 2018:30054919}" "unaffected younger sister carried the same two variants" "" "no" "" "" "0" "" "" "Syria" "11DG0685"
"00369213" "" "" "" "1" "" "01695" "{PMID:Patel 2018:30054919}" "" "" "no" "" "" "0" "" "" "Jordan" "13DG2284"
"00369214" "" "" "" "1" "" "01695" "{PMID:Patel 2018:30054919}" "" "" "no" "" "" "0" "" "" "Syria" "09DG01320"
"00369215" "" "" "" "1" "" "01695" "{PMID:Ezquerra-Inchausti 2018:30337596}" "" "" "?" "Spain" "" "0" "" "" "" "RP165"
"00369216" "" "" "" "1" "" "01695" "{PMID:Ezquerra-Inchausti 2018:30337596}" "" "" "?" "Spain" "" "0" "" "" "" "RP193"
"00369217" "" "" "" "1" "" "01695" "{PMID:Patel 2019:30653986}" "" "M" "?" "" "" "0" "" "" "white" "87"
"00369218" "" "" "" "1" "" "01695" "{PMID:Patel 2019:30653986}" "" "F" "?" "" "" "0" "" "" "white" "91"
"00369219" "" "" "" "1" "" "01695" "{PMID:Patel 2019:30653986}" "" "F" "no" "" "" "0" "" "" "white" "267"
"00369220" "" "" "" "1" "" "01695" "{PMID:Jespersgaard 2019:30718709}" "" "" "?" "Denmark" "" "0" "" "" "" "1"
"00369221" "" "" "" "1" "" "01695" "{PMID:Jespersgaard 2019:30718709}" "" "" "?" "Denmark" "" "0" "" "" "" "2"
"00369222" "" "" "" "1" "" "01695" "{PMID:Jespersgaard 2019:30718709}" "The variant BBS1 c.1169T>G p.(Met390Arg) was found as well." "" "?" "Denmark" "" "0" "" "" "" "3"
"00369223" "" "" "" "1" "" "01695" "{PMID:Jespersgaard 2019:30718709}" "" "" "?" "Denmark" "" "0" "" "" "" "4"
"00369224" "" "" "" "1" "" "01695" "{PMID:Jespersgaard 2019:30718709}" "" "" "?" "Denmark" "" "0" "" "" "" "5"
"00369225" "" "" "" "1" "" "01695" "{PMID:Jespersgaard 2019:30718709}" "" "" "?" "Denmark" "" "0" "" "" "" "6"
"00369226" "" "" "" "1" "" "01695" "{PMID:Jespersgaard 2019:30718709}" "" "" "?" "Denmark" "" "0" "" "" "" "7"
"00369227" "" "" "" "1" "" "01695" "{PMID:Jespersgaard 2019:30718709}" "The variant BBS10 c.271dup p.(Cys91Leufs*5) was found as well." "" "?" "Denmark" "" "0" "" "" "" "8"
"00369228" "" "" "" "1" "" "01695" "{PMID:Jespersgaard 2019:30718709}" "" "" "?" "Denmark" "" "0" "" "" "" "9"
"00369229" "" "" "" "1" "" "01695" "{PMID:Jespersgaard 2019:30718709}" "" "" "?" "Denmark" "" "0" "" "" "" "10"
"00369230" "" "" "" "1" "" "01695" "{PMID:Jespersgaard 2019:30718709}" "" "" "?" "Denmark" "" "0" "" "" "" "11"
"00369231" "" "" "" "1" "" "01695" "{PMID:Jespersgaard 2019:30718709}" "" "" "?" "Denmark" "" "0" "" "" "" "12"
"00369232" "" "" "" "1" "" "01695" "{PMID:Jespersgaard 2019:30718709}" "" "" "?" "Denmark" "" "0" "" "" "" "13"
"00369233" "" "" "" "1" "" "01695" "{PMID:Jespersgaard 2019:30718709}" "" "" "?" "Denmark" "" "0" "" "" "" "14"
"00369234" "" "" "" "1" "" "01695" "{PMID:Jespersgaard 2019:30718709}" "" "" "?" "Denmark" "" "0" "" "" "" "15"
"00369235" "" "" "" "1" "" "01695" "{PMID:Jespersgaard 2019:30718709}" "The variant CNGB3 c.1148del p.(Thr383Ilefs*13) was found as well." "" "?" "Denmark" "" "0" "" "" "" "16"
"00369236" "" "" "" "1" "" "01695" "{PMID:Jespersgaard 2019:30718709}" "" "" "?" "Denmark" "" "0" "" "" "" "17"
"00369237" "" "" "" "1" "" "01695" "{PMID:Jespersgaard 2019:30718709}" "The variant CNGA1 c.540del p.(Trp180*)# was found as well." "" "?" "Denmark" "" "0" "" "" "" "18"
"00369238" "" "" "" "1" "" "01695" "{PMID:Jespersgaard 2019:30718709}" "" "" "?" "Denmark" "" "0" "" "" "" "19"
"00369239" "" "" "" "1" "" "01695" "{PMID:Jespersgaard 2019:30718709}" "" "" "?" "Denmark" "" "0" "" "" "" "20"
"00369240" "" "" "" "1" "" "01695" "{PMID:Jespersgaard 2019:30718709}" "" "" "?" "Denmark" "" "0" "" "" "" "21"
"00369241" "" "" "" "1" "" "01695" "{PMID:Jespersgaard 2019:30718709}" "" "" "?" "Denmark" "" "0" "" "" "" "22"
"00369242" "" "" "" "1" "" "01695" "{PMID:Jespersgaard 2019:30718709}" "" "" "?" "Denmark" "" "0" "" "" "" "23"
"00369243" "" "" "" "1" "" "01695" "{PMID:Jespersgaard 2019:30718709}" "" "" "?" "Denmark" "" "0" "" "" "" "24"
"00369244" "" "" "" "1" "" "01695" "{PMID:Jespersgaard 2019:30718709}" "" "" "?" "Denmark" "" "0" "" "" "" "25"
"00369245" "" "" "" "1" "" "01695" "{PMID:Jespersgaard 2019:30718709}" "" "" "?" "Denmark" "" "0" "" "" "" "26"
"00369246" "" "" "" "1" "" "01695" "{PMID:Jespersgaard 2019:30718709}" "" "" "?" "Denmark" "" "0" "" "" "" "27"
"00369247" "" "" "" "1" "" "01695" "{PMID:Jespersgaard 2019:30718709}" "" "" "?" "Denmark" "" "0" "" "" "" "28"
"00369248" "" "" "" "1" "" "01695" "{PMID:Jespersgaard 2019:30718709}" "The variant CNGB3 c.1148del p.(Thr383Ilefs*13) was found as well." "" "?" "Denmark" "" "0" "" "" "" "29"
"00369249" "" "" "" "1" "" "01695" "{PMID:Jespersgaard 2019:30718709}" "" "" "?" "Denmark" "" "0" "" "" "" "30"
"00369250" "" "" "" "1" "" "01695" "{PMID:Jespersgaard 2019:30718709}" "" "" "?" "Denmark" "" "0" "" "" "" "31"
"00369251" "" "" "" "1" "" "01695" "{PMID:Jespersgaard 2019:30718709}" "" "" "?" "Denmark" "" "0" "" "" "" "32"
"00369252" "" "" "" "1" "" "01695" "{PMID:Jespersgaard 2019:30718709}" "" "" "?" "Denmark" "" "0" "" "" "" "33"
"00369253" "" "" "" "1" "" "01695" "{PMID:Jespersgaard 2019:30718709}" "" "" "?" "Denmark" "" "0" "" "" "" "35"
"00369254" "" "" "" "1" "" "01695" "{PMID:Jespersgaard 2019:30718709}" "" "" "?" "Denmark" "" "0" "" "" "" "36"
"00369255" "" "" "" "1" "" "01695" "{PMID:Jespersgaard 2019:30718709}" "" "" "?" "Denmark" "" "0" "" "" "" "37"
"00369256" "" "" "" "1" "" "01695" "{PMID:Jespersgaard 2019:30718709}" "" "" "?" "Denmark" "" "0" "" "" "" "38"
"00369257" "" "" "" "1" "" "01695" "{PMID:Jespersgaard 2019:30718709}" "" "" "?" "Denmark" "" "0" "" "" "" "308"
"00369258" "" "" "" "1" "" "01695" "{PMID:Jespersgaard 2019:30718709}" "" "" "?" "Denmark" "" "0" "" "" "" "309"
"00369259" "" "" "" "1" "" "01695" "{PMID:Jespersgaard 2019:30718709}" "" "" "?" "Denmark" "" "0" "" "" "" "310"
"00369260" "" "" "" "1" "" "01695" "{PMID:Jespersgaard 2019:30718709}" "" "" "?" "Denmark" "" "0" "" "" "" "311"
"00369261" "" "" "" "1" "" "01695" "{PMID:Jespersgaard 2019:30718709}" "" "" "?" "Denmark" "" "0" "" "" "" "312"
"00369262" "" "" "" "1" "" "01695" "{PMID:Jespersgaard 2019:30718709}" "" "" "?" "Denmark" "" "0" "" "" "" "313"
"00369263" "" "" "" "1" "" "01695" "{PMID:Jespersgaard 2019:30718709}" "" "" "?" "Denmark" "" "0" "" "" "" "314"
"00369264" "" "" "" "1" "" "01695" "{PMID:Jespersgaard 2019:30718709}" "" "" "?" "Denmark" "" "0" "" "" "" "315"
"00369265" "" "" "" "1" "" "01695" "{PMID:Jespersgaard 2019:30718709}" "" "" "?" "Denmark" "" "0" "" "" "" "316"
"00369266" "" "" "" "1" "" "01695" "{PMID:Jespersgaard 2019:30718709}" "" "" "?" "Denmark" "" "0" "" "" "" "317"
"00369267" "" "" "" "1" "" "01695" "{PMID:Jespersgaard 2019:30718709}" "" "" "?" "Denmark" "" "0" "" "" "" "318"
"00369268" "" "" "" "1" "" "01695" "{PMID:Jespersgaard 2019:30718709}" "" "" "?" "Denmark" "" "0" "" "" "" "319"
"00369269" "" "" "" "1" "" "01695" "{PMID:Jespersgaard 2019:30718709}" "The variant CNGB1 c.2570_2571insT p.(Glu857Aspfs*77) was found as well." "" "?" "Denmark" "" "0" "" "" "" "320"
"00369270" "" "" "" "1" "" "01695" "{PMID:Jespersgaard 2019:30718709}" "" "" "?" "Denmark" "" "0" "" "" "" "321"
"00369271" "" "" "" "1" "" "01695" "{PMID:Jespersgaard 2019:30718709}" "" "" "?" "Denmark" "" "0" "" "" "" "322"
"00369272" "" "" "" "1" "" "01695" "{PMID:Jespersgaard 2019:30718709}" "" "" "?" "Denmark" "" "0" "" "" "" "323"
"00369273" "" "" "" "1" "" "01695" "{PMID:Jespersgaard 2019:30718709}" "" "" "?" "Denmark" "" "0" "" "" "" "324"
"00369274" "" "" "" "1" "" "01695" "{PMID:Jespersgaard 2019:30718709}" "" "" "?" "Denmark" "" "0" "" "" "" "325"
"00369275" "" "" "" "1" "" "01695" "{PMID:Jespersgaard 2019:30718709}" "" "" "?" "Denmark" "" "0" "" "" "" "326"
"00369276" "" "" "" "1" "" "01695" "{PMID:Jespersgaard 2019:30718709}" "" "" "?" "Denmark" "" "0" "" "" "" "327"
"00369277" "" "" "" "1" "" "01695" "{PMID:Jespersgaard 2019:30718709}" "" "" "?" "Denmark" "" "0" "" "" "" "328"
"00369278" "" "" "" "1" "" "01695" "{PMID:Jespersgaard 2019:30718709}" "" "" "?" "Denmark" "" "0" "" "" "" "329"
"00369279" "" "" "" "1" "" "01695" "{PMID:Jespersgaard 2019:30718709}" "" "" "?" "Denmark" "" "0" "" "" "" "330"
"00369280" "" "" "" "1" "" "01695" "{PMID:Jespersgaard 2019:30718709}" "" "" "?" "Denmark" "" "0" "" "" "" "331"
"00369281" "" "" "" "1" "" "01695" "{PMID:Jespersgaard 2019:30718709}" "" "" "?" "Denmark" "" "0" "" "" "" "332"
"00369282" "" "" "" "1" "" "01695" "{PMID:Jespersgaard 2019:30718709}" "" "" "?" "Denmark" "" "0" "" "" "" "333"
"00369283" "" "" "" "1" "" "01695" "{PMID:Jespersgaard 2019:30718709}" "" "" "?" "Denmark" "" "0" "" "" "" "334"
"00369284" "" "" "" "1" "" "01695" "{PMID:Jespersgaard 2019:30718709}" "" "" "?" "Denmark" "" "0" "" "" "" "335"
"00369285" "" "" "" "1" "" "01695" "{PMID:Jespersgaard 2019:30718709}" "" "" "?" "Denmark" "" "0" "" "" "" "336"
"00369286" "" "" "" "1" "" "01695" "{PMID:Jespersgaard 2019:30718709}" "" "" "?" "Denmark" "" "0" "" "" "" "337"
"00369287" "" "" "" "1" "" "01695" "{PMID:Jespersgaard 2019:30718709}" "" "" "?" "Denmark" "" "0" "" "" "" "338"
"00369288" "" "" "" "1" "" "01695" "{PMID:Jespersgaard 2019:30718709}" "" "" "?" "Denmark" "" "0" "" "" "" "339"
"00369289" "" "" "" "1" "" "01695" "{PMID:Jespersgaard 2019:30718709}" "" "" "?" "Denmark" "" "0" "" "" "" "340"
"00369290" "" "" "" "1" "" "01695" "{PMID:Wang 2019:31106028}" "" "F" "?" "China" "" "0" "" "" "China" "#12070"
"00369291" "" "" "" "1" "" "01695" "{PMID:Wang 2019:31106028}" "" "F" "?" "China" "" "0" "" "" "China" "#12953"
"00369292" "" "" "" "1" "" "01695" "{PMID:Wang 2019:31106028}" "" "F" "?" "China" "" "0" "" "" "China" "#13013"
"00369293" "" "" "" "1" "" "01695" "{PMID:Wang 2019:31106028}" "" "M" "?" "China" "" "0" "" "" "China" "#13051"
"00369294" "" "" "" "1" "" "01695" "{PMID:Wang 2019:31106028}" "" "F" "?" "China" "" "0" "" "" "China" "#13143"
"00369295" "" "" "" "1" "" "01695" "{PMID:Wang 2019:31106028}" "" "M" "?" "China" "" "0" "" "" "China" "#13209"
"00369296" "" "" "" "1" "" "01695" "{PMID:Wang 2019:31106028}" "" "M" "?" "China" "" "0" "" "" "China" "#13247"
"00369297" "" "" "" "1" "" "01695" "{PMID:Wang 2019:31106028}" "" "F" "?" "China" "" "0" "" "" "China" "#13440"
"00369298" "" "" "" "1" "" "01695" "{PMID:Wang 2019:31106028}" "" "M" "?" "China" "" "0" "" "" "China" "#13456"
"00369299" "" "" "" "1" "" "01695" "{PMID:Wang 2019:31106028}" "" "M" "?" "China" "" "0" "" "" "China" "#13636"
"00369300" "" "" "" "1" "" "01695" "{PMID:Wang 2019:31106028}" "" "M" "?" "China" "" "0" "" "" "China" "#13747"
"00369301" "" "" "" "1" "" "01695" "{PMID:Wang 2019:31106028}" "" "F" "?" "China" "" "0" "" "" "China" "#13833"
"00369302" "" "" "" "1" "" "01695" "{PMID:Wang 2019:31106028}" "" "M" "?" "China" "" "0" "" "" "China" "#13880"
"00369303" "" "" "" "1" "" "01695" "{PMID:Wang 2019:31106028}" "" "F" "?" "China" "" "0" "" "" "China" "#14011"
"00369304" "" "" "" "1" "" "01695" "{PMID:Wang 2019:31106028}" "" "F" "?" "China" "" "0" "" "" "China" "#14214"
"00369305" "" "" "" "1" "" "01695" "{PMID:Wang 2019:31106028}" "" "F" "?" "China" "" "0" "" "" "China" "#14320"
"00369306" "" "" "" "1" "" "01695" "{PMID:Wang 2019:31106028}" "" "M" "?" "China" "" "0" "" "" "China" "#14321"
"00369307" "" "" "" "1" "" "01695" "{PMID:Wang 2019:31106028}" "" "F" "?" "China" "" "0" "" "" "China" "#14526"
"00369308" "" "" "" "1" "" "01695" "{PMID:Wang 2019:31106028}" "" "M" "?" "China" "" "0" "" "" "China" "#14545"
"00369309" "" "" "" "1" "" "01695" "{PMID:Wang 2019:31106028}" "" "M" "?" "China" "" "0" "" "" "China" "#14663"
"00369310" "" "" "" "1" "" "01695" "{PMID:Wang 2019:31106028}" "" "M" "?" "China" "" "0" "" "" "China" "#14863"
"00369311" "" "" "" "1" "" "01695" "{PMID:Xu 2020:31630094}" "" "" "yes" "China" "" "0" "" "" "China" "19394"
"00369312" "" "" "" "1" "" "01695" "{PMID:Xu 2020:31630094}" "" "" "no" "China" "" "0" "" "" "China" "19585"
"00369313" "" "" "" "1" "" "01695" "{PMID:Ehrenberg 2019:31814694}" "" "M" "no" "Israel" "" "0" "" "" "Jewish-mixed" "10-1"
"00369314" "" "" "" "1" "" "01695" "{PMID:Ehrenberg 2019:31814694}" "has an affected sister as well, who carries the same ABCA4 mutations" "M" "no" "Israel" "" "0" "" "" "Jewish-Yemenite" "8-2"
"00369315" "" "" "" "1" "" "01695" "{PMID:Chen 2020:31872526}" "" "F" "no" "Taiwan" "" "0" "" "" "Taiwan" "F11-II-1"
"00369316" "" "" "" "1" "" "01695" "{PMID:Rodríguez-Muños 2020:32036094}" "" "F" "?" "Spain" "" "0" "" "" "Spain" "RPN-125"
"00369317" "" "" "" "1" "" "01695" "{PMID:Rodríguez-Muños 2020:32036094}" "" "F" "?" "Spain" "" "0" "" "" "Spain" "RPN-126"
"00369318" "" "" "" "1" "" "01695" "{PMID:Rodríguez-Muños 2020:32036094}" "" "M" "?" "Spain" "" "0" "" "" "Spain" "RPN-283"
"00369319" "" "" "" "1" "" "01695" "{PMID:Rodríguez-Muños 2020:32036094}" "" "M" "?" "Spain" "" "0" "" "" "Spain" "RPN-289"
"00369320" "" "" "" "1" "" "01695" "{PMID:Rodríguez-Muños 2020:32036094}" "" "M" "?" "Spain" "" "0" "" "" "Spain" "RPN-290"
"00369321" "" "" "" "1" "" "01695" "{PMID:Rodríguez-Muños 2020:32036094}" "" "F" "?" "Spain" "" "0" "" "" "Spain" "RPN-291"
"00369322" "" "" "" "1" "" "01695" "{PMID:Rodríguez-Muños 2020:32036094}" "" "F" "?" "Spain" "" "0" "" "" "Spain" "RPN-294"
"00369323" "" "" "" "1" "" "01695" "{PMID:Rodríguez-Muños 2020:32036094}" "" "F" "?" "Spain" "" "0" "" "" "Spain" "RPN-317"
"00369324" "" "" "" "1" "" "01695" "{PMID:Rodríguez-Muños 2020:32036094}" "" "F" "?" "Spain" "" "0" "" "" "Spain" "RPN-327"
"00369325" "" "" "" "1" "" "01695" "{PMID:Rodríguez-Muños 2020:32036094}" "" "M" "?" "Spain" "" "0" "" "" "Spain" "RPN-342"
"00369326" "" "" "" "1" "" "01695" "{PMID:Rodríguez-Muños 2020:32036094}" "" "F" "?" "Spain" "" "0" "" "" "Spain" "RPN-379"
"00369327" "" "" "" "1" "" "01695" "{PMID:Rodríguez-Muños 2020:32036094}" "" "F" "?" "Spain" "" "0" "" "" "Spain" "RPN-410"
"00369328" "" "" "" "1" "" "01695" "{PMID:Rodríguez-Muños 2020:32036094}" "" "F" "?" "Spain" "" "0" "" "" "Spain" "RPN-445"
"00369329" "" "" "" "1" "" "01695" "{PMID:Rodríguez-Muños 2020:32036094}" "" "F" "?" "Spain" "" "0" "" "" "Spain" "RPN-463"
"00369330" "" "" "" "1" "" "01695" "{PMID:Rodríguez-Muños 2020:32036094}" "" "F" "?" "Spain" "" "0" "" "" "Spain" "RPN-510"
"00369331" "" "" "" "1" "" "01695" "{PMID:Rodríguez-Muños 2020:32036094}" "" "M" "?" "Spain" "" "0" "" "" "Spain" "RPN-587"
"00369332" "" "" "" "1" "" "01695" "{PMID:Rodríguez-Muños 2020:32036094}" "" "M" "?" "Spain" "" "0" "" "" "Spain" "RPN-609"
"00369333" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "F" "?" "Germany" "" "0" "" "" "" "158"
"00369334" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "" "?" "Germany" "" "0" "" "" "" "204"
"00369335" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "F" "?" "Germany" "" "0" "" "" "" "231"
"00369336" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "M" "?" "Germany" "" "0" "" "" "" "63"
"00369337" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "M" "?" "Germany" "" "0" "" "" "" "166"
"00369338" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "F" "?" "Germany" "" "0" "" "" "" "347"
"00369339" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "F" "?" "Germany" "" "0" "" "" "" "375"
"00369340" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "F" "?" "Germany" "" "0" "" "" "" "444"
"00369341" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "F" "?" "Germany" "" "0" "" "" "" "465"
"00369342" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "M" "?" "Germany" "" "0" "" "" "" "467"
"00369343" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "M" "?" "Germany" "" "0" "" "" "" "470"
"00369344" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "M" "?" "Germany" "" "0" "" "" "" "478"
"00369345" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "F" "?" "Germany" "" "0" "" "" "" "479"
"00369346" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "M" "?" "Germany" "" "0" "" "" "" "529"
"00369347" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "F" "?" "Germany" "" "0" "" "" "" "530"
"00369348" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "F" "?" "Germany" "" "0" "" "" "" "545"
"00369349" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "F" "?" "Germany" "" "0" "" "" "" "556"
"00369350" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "F" "?" "Germany" "" "0" "" "" "" "565"
"00369351" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "F" "?" "Germany" "" "0" "" "" "" "587"
"00369352" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "M" "?" "Germany" "" "0" "" "" "" "588"
"00369353" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "M" "?" "Germany" "" "0" "" "" "" "75"
"00369354" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "F" "?" "Germany" "" "0" "" "" "" "140"
"00369355" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "" "?" "Germany" "" "0" "" "" "" "141"
"00369356" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "M" "?" "Germany" "" "0" "" "" "" "294"
"00369357" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "F" "?" "Germany" "" "0" "" "" "" "312"
"00369358" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "F" "?" "Germany" "" "0" "" "" "" "419"
"00369359" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "F" "?" "Germany" "" "0" "" "" "" "440"
"00369360" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "M" "?" "Germany" "" "0" "" "" "" "451"
"00369361" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "F" "?" "Germany" "" "0" "" "" "" "453"
"00369362" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "M" "?" "Germany" "" "0" "" "" "" "482"
"00369363" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "F" "?" "Germany" "" "0" "" "" "" "490"
"00369364" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "M" "?" "Germany" "" "0" "" "" "" "491"
"00369365" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "" "?" "Germany" "" "0" "" "" "" "492"
"00369366" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "M" "?" "Germany" "" "0" "" "" "" "493"
"00369367" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "F" "?" "Germany" "" "0" "" "" "" "499"
"00369368" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "F" "?" "Germany" "" "0" "" "" "" "506"
"00369369" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "M" "?" "Germany" "" "0" "" "" "" "508"
"00369370" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "M" "?" "Germany" "" "0" "" "" "" "509"
"00369371" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "F" "?" "Germany" "" "0" "" "" "" "566"
"00369372" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "M" "?" "Germany" "" "0" "" "" "" "568"
"00369373" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "M" "?" "Germany" "" "0" "" "" "" "621"
"00369374" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "F" "?" "Germany" "" "0" "" "" "" "632"
"00369375" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "F" "?" "Germany" "" "0" "" "" "" "634"
"00369376" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "F" "?" "Germany" "" "0" "" "" "" "636"
"00369377" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "F" "?" "Germany" "" "0" "" "" "" "643"
"00369378" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "M" "?" "Germany" "" "0" "" "" "" "674"
"00369379" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "M" "?" "Germany" "" "0" "" "" "" "675"
"00369380" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "F" "?" "Germany" "" "0" "" "" "" "688"
"00369381" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "F" "?" "Germany" "" "0" "" "" "" "693"
"00369382" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "" "?" "Germany" "" "0" "" "" "" "697"
"00369383" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "" "?" "Germany" "" "0" "" "" "" "702"
"00369384" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "" "?" "Germany" "" "0" "" "" "" "704"
"00369385" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "M" "?" "Germany" "" "0" "" "" "" "706"
"00369386" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "F" "?" "Germany" "" "0" "" "" "" "708"
"00369387" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "F" "?" "Germany" "" "0" "" "" "" "715"
"00369388" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "M" "?" "Germany" "" "0" "" "" "" "716"
"00369389" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "M" "?" "Germany" "" "0" "" "" "" "718"
"00369390" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "M" "?" "Germany" "" "0" "" "" "" "719"
"00369391" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "M" "?" "Germany" "" "0" "" "" "" "720"
"00369392" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "F" "?" "Germany" "" "0" "" "" "" "722"
"00369393" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "F" "?" "Germany" "" "0" "" "" "" "723"
"00369394" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "F" "?" "Germany" "" "0" "" "" "" "742"
"00369395" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "F" "?" "Germany" "" "0" "" "" "" "745"
"00369396" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "M" "?" "Germany" "" "0" "" "" "" "752"
"00369397" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "M" "?" "Germany" "" "0" "" "" "" "756"
"00369398" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "M" "?" "Germany" "" "0" "" "" "" "167"
"00369399" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "F" "?" "Germany" "" "0" "" "" "" "170"
"00369400" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "M" "?" "Germany" "" "0" "" "" "" "171"
"00369401" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "M" "?" "Germany" "" "0" "" "" "" "174"
"00369402" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "F" "?" "Germany" "" "0" "" "" "" "178"
"00369403" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "F" "?" "Germany" "" "0" "" "" "" "181"
"00369404" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "F" "?" "Germany" "" "0" "" "" "" "182"
"00369405" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "F" "?" "Germany" "" "0" "" "" "" "190"
"00369406" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "M" "?" "Germany" "" "0" "" "" "" "199"
"00369407" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "F" "?" "Germany" "" "0" "" "" "" "203"
"00369408" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "M" "?" "Germany" "" "0" "" "" "" "211"
"00369409" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "F" "?" "Germany" "" "0" "" "" "" "212"
"00369410" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "M" "?" "Germany" "" "0" "" "" "" "217"
"00369411" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "F" "?" "Germany" "" "0" "" "" "" "231"
"00369412" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "F" "?" "Germany" "" "0" "" "" "" "238"
"00369413" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "M" "?" "Germany" "" "0" "" "" "" "240"
"00369414" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "M" "?" "Germany" "" "0" "" "" "" "244"
"00369415" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "M" "?" "Germany" "" "0" "" "" "" "254"
"00369416" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "F" "?" "Germany" "" "0" "" "" "" "255"
"00369417" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "M" "?" "Germany" "" "0" "" "" "" "260"
"00369418" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "M" "?" "Germany" "" "0" "" "" "" "261"
"00369419" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "F" "?" "Germany" "" "0" "" "" "" "270"
"00369420" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "F" "?" "Germany" "" "0" "" "" "" "281"
"00369421" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "F" "?" "Germany" "" "0" "" "" "" "289"
"00369422" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "M" "?" "Germany" "" "0" "" "" "" "302"
"00369423" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "M" "?" "Germany" "" "0" "" "" "" "329"
"00369424" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "F" "?" "Germany" "" "0" "" "" "" "335"
"00369425" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "F" "?" "Germany" "" "0" "" "" "" "350"
"00369426" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "F" "?" "Germany" "" "0" "" "" "" "357"
"00369427" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "M" "?" "Germany" "" "0" "" "" "" "382"
"00369428" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "F" "?" "Germany" "" "0" "" "" "" "384"
"00369429" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "F" "?" "Germany" "" "0" "" "" "" "390"
"00369430" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "F" "?" "Germany" "" "0" "" "" "" "57"
"00369431" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "M" "?" "Germany" "" "0" "" "" "" "80"
"00369432" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "F" "?" "Germany" "" "0" "" "" "" "1077"
"00369433" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "F" "?" "Germany" "" "0" "" "" "" "1098"
"00369434" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "F" "?" "Germany" "" "0" "" "" "" "345"
"00369435" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "M" "?" "Germany" "" "0" "" "" "" "420"
"00369436" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "F" "?" "Germany" "" "0" "" "" "" "432"
"00369437" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "M" "?" "Germany" "" "0" "" "" "" "98"
"00369438" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "M" "?" "Germany" "" "0" "" "" "" "124"
"00369439" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "" "?" "Germany" "" "0" "" "" "" "134"
"00369440" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "M" "?" "Germany" "" "0" "" "" "" "147"
"00369441" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "" "?" "Germany" "" "0" "" "" "" "158"
"00369442" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "likely a parent-child relationship with 166 (2)" "F" "?" "Germany" "" "0" "" "" "" "166 (1)"
"00369443" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "likely a parent-child relationship with 166 (1)" "M" "?" "Germany" "" "0" "" "" "" "166 (2)"
"00369444" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "M" "?" "Germany" "" "0" "" "" "" "170"
"00369445" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "F" "?" "Germany" "" "0" "" "" "" "175"
"00369446" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "" "?" "Germany" "" "0" "" "" "" "187"
"00369447" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "M" "?" "Germany" "" "0" "" "" "" "202"
"00369448" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "F" "?" "Germany" "" "0" "" "" "" "212"
"00369449" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "M" "?" "Germany" "" "0" "" "" "" "213"
"00369450" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "F" "?" "Germany" "" "0" "" "" "" "217"
"00369451" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "F" "?" "Germany" "" "0" "" "" "" "220"
"00369452" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "M" "?" "Germany" "" "0" "" "" "" "221"
"00369453" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "F" "?" "Germany" "" "0" "" "" "" "222"
"00369454" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "F" "?" "Germany" "" "0" "" "" "" "223"
"00369455" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "M" "?" "Germany" "" "0" "" "" "" "227"
"00369456" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "F" "?" "Germany" "" "0" "" "" "" "228"
"00369457" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "F" "?" "Germany" "" "0" "" "" "" "229"
"00369458" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "F" "?" "Germany" "" "0" "" "" "" "234"
"00369459" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "F" "?" "Germany" "" "0" "" "" "" "240"
"00369460" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "M" "?" "Germany" "" "0" "" "" "" "241"
"00369461" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "M" "?" "Germany" "" "0" "" "" "" "243"
"00369462" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "F" "?" "Germany" "" "0" "" "" "" "244"
"00369463" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "F" "?" "Germany" "" "0" "" "" "" "247"
"00369464" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "M" "?" "Germany" "" "0" "" "" "" "249"
"00369465" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "F" "?" "Germany" "" "0" "" "" "" "250"
"00369466" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "M" "?" "Germany" "" "0" "" "" "" "253"
"00369467" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "M" "?" "Germany" "" "0" "" "" "" "254"
"00369468" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "M" "?" "Germany" "" "0" "" "" "" "256"
"00369469" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "M" "?" "Germany" "" "0" "" "" "" "258"
"00369470" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "M" "?" "Germany" "" "0" "" "" "" "262"
"00369471" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "F" "?" "Germany" "" "0" "" "" "" "263"
"00369472" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "F" "?" "Germany" "" "0" "" "" "" "264"
"00369473" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "M" "?" "Germany" "" "0" "" "" "" "269"
"00369474" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "M" "?" "Germany" "" "0" "" "" "" "272"
"00369475" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "F" "?" "Germany" "" "0" "" "" "" "273"
"00369476" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "M" "?" "Germany" "" "0" "" "" "" "275"
"00369477" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "F" "?" "Germany" "" "0" "" "" "" "278"
"00369478" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "F" "?" "Germany" "" "0" "" "" "" "279"
"00369479" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "M" "?" "Germany" "" "0" "" "" "" "281"
"00369480" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "F" "?" "Germany" "" "0" "" "" "" "286"
"00369481" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "M" "?" "Germany" "" "0" "" "" "" "287"
"00369482" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "F" "?" "Germany" "" "0" "" "" "" "288"
"00369483" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "F" "?" "Germany" "" "0" "" "" "" "292"
"00369484" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "F" "?" "Germany" "" "0" "" "" "" "297"
"00369485" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "F" "?" "Germany" "" "0" "" "" "" "299"
"00369486" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "M" "?" "Germany" "" "0" "" "" "" "300"
"00369487" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "F" "?" "Germany" "" "0" "" "" "" "303"
"00369488" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "F" "?" "Germany" "" "0" "" "" "" "306"
"00369489" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "F" "?" "Germany" "" "0" "" "" "" "307"
"00369490" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "F" "?" "Germany" "" "0" "" "" "" "310"
"00369491" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "M" "?" "Germany" "" "0" "" "" "" "311"
"00369492" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "M" "?" "Germany" "" "0" "" "" "" "312"
"00369493" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "F" "?" "Germany" "" "0" "" "" "" "313"
"00369494" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "M" "?" "Germany" "" "0" "" "" "" "314"
"00369495" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "M" "?" "Germany" "" "0" "" "" "" "316"
"00369496" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "M" "?" "Germany" "" "0" "" "" "" "317"
"00369497" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "M" "?" "Germany" "" "0" "" "" "" "318"
"00369498" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "M" "?" "Germany" "" "0" "" "" "" "319"
"00369499" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "F" "?" "Germany" "" "0" "" "" "" "320"
"00369500" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "F" "?" "Germany" "" "0" "" "" "" "321"
"00369501" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "F" "?" "Germany" "" "0" "" "" "" "322"
"00369502" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "M" "?" "Germany" "" "0" "" "" "" "325"
"00369503" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "F" "?" "Germany" "" "0" "" "" "" "326"
"00369504" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "M" "?" "Germany" "" "0" "" "" "" "329"
"00369505" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "F" "?" "Germany" "" "0" "" "" "" "332"
"00369506" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "F" "?" "Germany" "" "0" "" "" "" "333"
"00369507" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "M" "?" "Germany" "" "0" "" "" "" "336"
"00369508" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "F" "?" "Germany" "" "0" "" "" "" "338"
"00369509" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "F" "?" "Germany" "" "0" "" "" "" "339"
"00369510" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "M" "?" "Germany" "" "0" "" "" "" "340"
"00369511" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "F" "?" "Germany" "" "0" "" "" "" "341"
"00369512" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "M" "?" "Germany" "" "0" "" "" "" "343"
"00369513" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "F" "?" "Germany" "" "0" "" "" "" "344"
"00369514" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "F" "?" "Germany" "" "0" "" "" "" "345"
"00369515" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "F" "?" "Germany" "" "0" "" "" "" "346"
"00369516" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "M" "?" "Germany" "" "0" "" "" "" "347"
"00369517" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "M" "?" "Germany" "" "0" "" "" "" "348"
"00369518" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "M" "?" "Germany" "" "0" "" "" "" "349"
"00369519" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "M" "?" "Germany" "" "0" "" "" "" "350"
"00369520" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "F" "?" "Germany" "" "0" "" "" "" "351"
"00369521" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "" "?" "Germany" "" "0" "" "" "" "353"
"00369522" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "F" "?" "Germany" "" "0" "" "" "" "355"
"00369523" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "M" "?" "Germany" "" "0" "" "" "" "356"
"00369524" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "F" "?" "Germany" "" "0" "" "" "" "357"
"00369525" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "F" "?" "Germany" "" "0" "" "" "" "358"
"00369526" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "F" "?" "Germany" "" "0" "" "" "" "360"
"00369527" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "F" "?" "Germany" "" "0" "" "" "" "361"
"00369528" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "F" "?" "Germany" "" "0" "" "" "" "362"
"00369529" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "M" "?" "Germany" "" "0" "" "" "" "365"
"00369530" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "F" "?" "Germany" "" "0" "" "" "" "367"
"00369531" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "F" "?" "Germany" "" "0" "" "" "" "369"
"00369532" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "F" "?" "Germany" "" "0" "" "" "" "85"
"00369533" "" "" "" "1" "" "01695" "{PMID:Weisschuh 2020:32531858}" "" "M" "?" "Germany" "" "0" "" "" "" "99"
"00369534" "" "" "" "1" "" "01695" "{PMID:Gao 2019:31054281}" "" "" "?" "" "" "0" "" "" "" "RD18184160_B"
"00369535" "" "" "" "1" "" "01695" "{PMID:Gao 2019:31054281}" "" "" "?" "" "" "0" "" "" "" "RD18184100_B"
"00369536" "" "" "" "1" "" "01695" "{PMID:Gao 2019:31054281}" "" "" "?" "" "" "0" "" "" "" "RD18184151_B"
"00369537" "" "" "" "1" "" "01695" "{PMID:Gao 2019:31054281}" "variant reported in the supplemental data. It is unclear in what kind of patient this variant was found and if a second variant was identied as well." "" "?" "" "" "0" "" "" "" "Unknown 1223"
"00369538" "" "" "" "1" "" "01695" "{PMID:Gao 2019:31054281}" "variant reported in the supplemental data. It is unclear in what kind of patient this variant was found and if a second variant was identied as well." "" "?" "" "" "0" "" "" "" "Unknown 1224"
"00369539" "" "" "" "1" "" "01695" "{PMID:Gao 2019:31054281}" "variant reported in the supplemental data. It is unclear in what kind of patient this variant was found and if a second variant was identied as well." "" "?" "" "" "0" "" "" "" "Unknown 1225"
"00369540" "" "" "" "1" "" "01695" "{PMID:Gao 2019:31054281}" "variant reported in the supplemental data. It is unclear in what kind of patient this variant was found and if a second variant was identied as well." "" "?" "" "" "0" "" "" "" "Unknown 1226"
"00369541" "" "" "" "1" "" "01695" "{PMID:Gao 2019:31054281}" "variant reported in the supplemental data. It is unclear in what kind of patient this variant was found and if a second variant was identied as well." "" "?" "" "" "0" "" "" "" "Unknown 1227"
"00369542" "" "" "" "1" "" "01695" "{PMID:Gao 2019:31054281}" "variant reported in the supplemental data. It is unclear in what kind of patient this variant was found and if a second variant was identied as well." "" "?" "" "" "0" "" "" "" "Unknown 1228"
"00369543" "" "" "" "1" "" "01695" "{PMID:Gao 2019:31054281}" "variant reported in the supplemental data. It is unclear in what kind of patient this variant was found and if a second variant was identied as well." "" "?" "" "" "0" "" "" "" "Unknown 1229"
"00369544" "" "" "" "1" "" "01695" "{PMID:Gao 2019:31054281}" "variant reported in the supplemental data. It is unclear in what kind of patient this variant was found and if a second variant was identied as well." "" "?" "" "" "0" "" "" "" "Unknown 1230"
"00369545" "" "" "" "1" "" "01695" "{PMID:Gao 2019:31054281}" "variant reported in the supplemental data. It is unclear in what kind of patient this variant was found and if a second variant was identied as well." "" "?" "" "" "0" "" "" "" "Unknown 1231"
"00369546" "" "" "" "1" "" "01695" "{PMID:Gao 2019:31054281}" "variant reported in the supplemental data. It is unclear in what kind of patient this variant was found and if a second variant was identied as well." "" "?" "" "" "0" "" "" "" "Unknown 1232"
"00369547" "" "" "" "1" "" "01695" "{PMID:Gao 2019:31054281}" "variant reported in the supplemental data. It is unclear in what kind of patient this variant was found and if a second variant was identied as well." "" "?" "" "" "0" "" "" "" "Unknown 1233"
"00369548" "" "" "" "1" "" "01695" "{PMID:Gao 2019:31054281}" "variant reported in the supplemental data. It is unclear in what kind of patient this variant was found and if a second variant was identied as well." "" "?" "" "" "0" "" "" "" "Unknown 1234"
"00369549" "" "" "" "1" "" "01695" "{PMID:Gao 2019:31054281}" "variant reported in the supplemental data. It is unclear in what kind of patient this variant was found and if a second variant was identied as well." "" "?" "" "" "0" "" "" "" "Unknown 1235"
"00369550" "" "" "" "1" "" "01695" "{PMID:Gao 2019:31054281}" "variant reported in the supplemental data. It is unclear in what kind of patient this variant was found and if a second variant was identied as well." "" "?" "" "" "0" "" "" "" "Unknown 1236"
"00369551" "" "" "" "1" "" "01695" "{PMID:Gao 2019:31054281}" "variant reported in the supplemental data. It is unclear in what kind of patient this variant was found and if a second variant was identied as well." "" "?" "" "" "0" "" "" "" "Unknown 1237"
"00369552" "" "" "" "1" "" "01695" "{PMID:Gao 2019:31054281}" "variant reported in the supplemental data. It is unclear in what kind of patient this variant was found and if a second variant was identied as well." "" "?" "" "" "0" "" "" "" "Unknown 1238"
"00369553" "" "" "" "1" "" "01695" "{PMID:Gao 2019:31054281}" "variant reported in the supplemental data. It is unclear in what kind of patient this variant was found and if a second variant was identied as well." "" "?" "" "" "0" "" "" "" "Unknown 1239"
"00369554" "" "" "" "1" "" "01695" "{PMID:Gao 2019:31054281}" "variant reported in the supplemental data. It is unclear in what kind of patient this variant was found and if a second variant was identied as well." "" "?" "" "" "0" "" "" "" "Unknown 1240"
"00369555" "" "" "" "1" "" "01695" "{PMID:Gao 2019:31054281}" "variant reported in the supplemental data. It is unclear in what kind of patient this variant was found and if a second variant was identied as well." "" "?" "" "" "0" "" "" "" "Unknown 1241"
"00369556" "" "" "" "1" "" "01695" "{PMID:Gao 2019:31054281}" "variant reported in the supplemental data. It is unclear in what kind of patient this variant was found and if a second variant was identied as well." "" "?" "" "" "0" "" "" "" "Unknown 1242"
"00369557" "" "" "" "1" "" "01695" "{PMID:Koyanagi 2019:31213501}" "" "" "?" "" "" "0" "" "" "Japan" "Unknown 1245"
"00369558" "" "" "" "1" "" "01695" "{PMID:Koyanagi 2019:31213501}" "" "" "?" "" "" "0" "" "" "Japan" "Unknown 1246"
"00369559" "" "" "" "1" "" "01695" "{PMID:Koyanagi 2019:31213501}" "" "" "?" "" "" "0" "" "" "Japan" "Unknown 1248"
"00369560" "" "" "" "1" "" "01695" "{PMID:Koyanagi 2019:31213501}" "" "" "?" "" "" "0" "" "" "Japan" "Unknown 1249"
"00369561" "" "" "" "1" "" "01695" "{PMID:Koyanagi 2019:31213501}" "" "" "?" "" "" "0" "" "" "Japan" "Unknown 1251"
"00369562" "" "" "" "1" "" "01695" "{PMID:Koyanagi 2019:31213501}" "" "" "?" "" "" "0" "" "" "Japan" "Unknown 1252"
"00369563" "" "" "" "1" "" "01695" "{PMID:Koyanagi 2019:31213501}" "mutations were not reported per patient." "" "?" "" "" "0" "" "" "Japan" "Unknown 1255"
"00369564" "" "" "" "1" "" "01695" "{PMID:Koyanagi 2019:31213501}" "mutations were not reported per patient." "" "?" "" "" "0" "" "" "Japan" "Unknown 1256"
"00369565" "" "" "" "1" "" "01695" "{PMID:Koyanagi 2019:31213501}" "mutations were not reported per patient." "" "?" "" "" "0" "" "" "Japan" "Unknown 1257"
"00369566" "" "" "" "1" "" "01695" "{PMID:Koyanagi 2019:31213501}" "mutations were not reported per patient." "" "?" "" "" "0" "" "" "Japan" "Unknown 1258"
"00369567" "" "" "" "1" "" "01695" "{PMID:Koyanagi 2019:31213501}" "mutations were not reported per patient." "" "?" "" "" "0" "" "" "Japan" "Unknown 1259"
"00369568" "" "" "" "1" "" "01695" "{PMID:Koyanagi 2019:31213501}" "mutations were not reported per patient." "" "?" "" "" "0" "" "" "Japan" "Unknown 1260"
"00369569" "" "" "" "1" "" "01695" "{PMID:Koyanagi 2019:31213501}" "mutations were not reported per patient." "" "?" "" "" "0" "" "" "Japan" "Unknown 1261"
"00369570" "" "" "" "1" "" "01695" "{PMID:Koyanagi 2019:31213501}" "mutations were not reported per patient." "" "?" "" "" "0" "" "" "Japan" "Unknown 1262"
"00369571" "" "" "" "1" "" "01695" "{PMID:Koyanagi 2019:31213501}" "mutations were not reported per patient." "" "?" "" "" "0" "" "" "Japan" "Unknown 1263"
"00369572" "" "" "" "1" "" "01695" "{PMID:Koyanagi 2019:31213501}" "mutations were not reported per patient." "" "?" "" "" "0" "" "" "Japan" "Unknown 1264"
"00369573" "" "" "" "1" "" "01695" "{PMID:Koyanagi 2019:31213501}" "mutations were not reported per patient." "" "?" "" "" "0" "" "" "Japan" "Unknown 1265"
"00369574" "" "" "" "1" "" "01695" "{PMID:Koyanagi 2019:31213501}" "mutations were not reported per patient." "" "?" "" "" "0" "" "" "Japan" "Unknown 1266"
"00369575" "" "" "" "1" "" "01695" "{PMID:Koyanagi 2019:31213501}" "mutations were not reported per patient." "" "?" "" "" "0" "" "" "Japan" "Unknown 1267"
"00369576" "" "" "" "1" "" "01695" "{PMID:Koyanagi 2019:31213501}" "mutations were not reported per patient." "" "?" "" "" "0" "" "" "Japan" "Unknown 1268"
"00369577" "" "" "" "1" "" "01695" "{PMID:Koyanagi 2019:31213501}" "mutations were not reported per patient." "" "?" "" "" "0" "" "" "Japan" "Unknown 1269"
"00369578" "" "" "" "1" "" "01695" "{PMID:Koyanagi 2019:31213501}" "mutations were not reported per patient." "" "?" "" "" "0" "" "" "Japan" "Unknown 1270"
"00369579" "" "" "" "1" "" "01695" "{PMID:Koyanagi 2019:31213501}" "mutations were not reported per patient." "" "?" "" "" "0" "" "" "Japan" "Unknown 1271"
"00369580" "" "" "" "1" "" "01695" "{PMID:Koyanagi 2019:31213501}" "mutations were not reported per patient." "" "?" "" "" "0" "" "" "Japan" "Unknown 1272"
"00369581" "" "" "" "1" "" "01695" "{PMID:Koyanagi 2019:31213501}" "mutations were not reported per patient." "" "?" "" "" "0" "" "" "Japan" "Unknown 1273"
"00369582" "" "" "" "1" "" "01695" "{PMID:Koyanagi 2019:31213501}" "mutations were not reported per patient." "" "?" "" "" "0" "" "" "Japan" "Unknown 1274"
"00369583" "" "" "" "1" "" "01695" "{PMID:Koyanagi 2019:31213501}" "mutations were not reported per patient." "" "?" "" "" "0" "" "" "Japan" "Unknown 1275"
"00369584" "" "" "" "1" "" "01695" "{PMID:Koyanagi 2019:31213501}" "mutations were not reported per patient." "" "?" "" "" "0" "" "" "Japan" "Unknown 1276"
"00369585" "" "" "" "1" "" "01695" "{PMID:Koyanagi 2019:31213501}" "mutations were not reported per patient." "" "?" "" "" "0" "" "" "Japan" "Unknown 1277"
"00369586" "" "" "" "1" "" "01695" "{PMID:Koyanagi 2019:31213501}" "mutations were not reported per patient." "" "?" "" "" "0" "" "" "Japan" "Unknown 1278"
"00369587" "" "" "" "1" "" "01695" "{PMID:Koyanagi 2019:31213501}" "mutations were not reported per patient." "" "?" "" "" "0" "" "" "Japan" "Unknown 1279"
"00369588" "" "" "" "1" "" "01695" "{PMID:Koyanagi 2019:31213501}" "mutations were not reported per patient." "" "?" "" "" "0" "" "" "Japan" "Unknown 1280"
"00369589" "" "" "" "1" "" "01695" "{PMID:Koyanagi 2019:31213501}" "mutations were not reported per patient." "" "?" "" "" "0" "" "" "Japan" "Unknown 1281"
"00369590" "" "" "" "1" "" "01695" "{PMID:Koyanagi 2019:31213501}" "mutations were not reported per patient." "" "?" "" "" "0" "" "" "Japan" "Unknown 1282"
"00369591" "" "" "" "1" "" "01695" "{PMID:Koyanagi 2019:31213501}" "mutations were not reported per patient." "" "?" "" "" "0" "" "" "Japan" "Unknown 1283"
"00369592" "" "" "" "1" "" "01695" "{PMID:Koyanagi 2019:31213501}" "mutations were not reported per patient." "" "?" "" "" "0" "" "" "Japan" "Unknown 1284"
"00369593" "" "" "" "1" "" "01695" "{PMID:Koyanagi 2019:31213501}" "mutations were not reported per patient." "" "?" "" "" "0" "" "" "Japan" "Unknown 1285"
"00369594" "" "" "" "1" "" "01695" "{PMID:Koyanagi 2019:31213501}" "mutations were not reported per patient." "" "?" "" "" "0" "" "" "Japan" "Unknown 1286"
"00369595" "" "" "" "1" "" "01695" "{PMID:Koyanagi 2019:31213501}" "mutations were not reported per patient." "" "?" "" "" "0" "" "" "Japan" "Unknown 1287"
"00369596" "" "" "" "1" "" "01695" "{PMID:Koyanagi 2019:31213501}" "mutations were not reported per patient." "" "?" "" "" "0" "" "" "Japan" "Unknown 1288"
"00369597" "" "" "" "1" "" "01695" "{PMID:Koyanagi 2019:31213501}" "mutations were not reported per patient." "" "?" "" "" "0" "" "" "Japan" "Unknown 1289"
"00369598" "" "" "" "1" "" "01695" "{PMID:Koyanagi 2019:31213501}" "mutations were not reported per patient." "" "?" "" "" "0" "" "" "Japan" "Unknown 1290"
"00369599" "" "" "" "1" "" "01695" "{PMID:Koyanagi 2019:31213501}" "mutations were not reported per patient." "" "?" "" "" "0" "" "" "Japan" "Unknown 1291"
"00369600" "" "" "" "1" "" "01695" "{PMID:Koyanagi 2019:31213501}" "mutations were not reported per patient." "" "?" "" "" "0" "" "" "Japan" "Unknown 1292"
"00369601" "" "" "" "1" "" "01695" "{PMID:Koyanagi 2019:31213501}" "mutations were not reported per patient." "" "?" "" "" "0" "" "" "Japan" "Unknown 1293"
"00369602" "" "" "" "1" "" "01695" "{PMID:Koyanagi 2019:31213501}" "mutations were not reported per patient." "" "?" "" "" "0" "" "" "Japan" "Unknown 1294"
"00369603" "" "" "" "1" "" "01695" "{PMID:Koyanagi 2019:31213501}" "mutations were not reported per patient." "" "?" "" "" "0" "" "" "Japan" "Unknown 1295"
"00369604" "" "" "" "1" "" "01695" "{PMID:Koyanagi 2019:31213501}" "mutations were not reported per patient." "" "?" "" "" "0" "" "" "Japan" "Unknown 1296"
"00369605" "" "" "" "1" "" "01695" "{PMID:Koyanagi 2019:31213501}" "mutations were not reported per patient." "" "?" "" "" "0" "" "" "Japan" "Unknown 1297"
"00369606" "" "" "" "1" "" "01695" "{PMID:Koyanagi 2019:31213501}" "mutations were not reported per patient." "" "?" "" "" "0" "" "" "Japan" "Unknown 1298"
"00369607" "" "" "" "1" "" "01695" "{PMID:Koyanagi 2019:31213501}" "mutations were not reported per patient." "" "?" "" "" "0" "" "" "Japan" "Unknown 1299"
"00369608" "" "" "" "1" "" "01695" "{PMID:Koyanagi 2019:31213501}" "mutations were not reported per patient." "" "?" "" "" "0" "" "" "Japan" "Unknown 1300"
"00369609" "" "" "" "1" "" "01695" "{PMID:Koyanagi 2019:31213501}" "mutations were not reported per patient." "" "?" "" "" "0" "" "" "Japan" "Unknown 1301"
"00369610" "" "" "" "1" "" "01695" "{PMID:Koyanagi 2019:31213501}" "mutations were not reported per patient." "" "?" "" "" "0" "" "" "Japan" "Unknown 1302"
"00369611" "" "" "" "1" "" "01695" "{PMID:Koyanagi 2019:31213501}" "mutations were not reported per patient." "" "?" "" "" "0" "" "" "Japan" "Unknown 1303"
"00369612" "" "" "" "1" "" "01695" "{PMID:Koyanagi 2019:31213501}" "mutations were not reported per patient." "" "?" "" "" "0" "" "" "Japan" "Unknown 1304"
"00369613" "" "" "" "1" "" "01695" "{PMID:Koyanagi 2019:31213501}" "mutations were not reported per patient." "" "?" "" "" "0" "" "" "Japan" "Unknown 1305"
"00369614" "" "" "" "1" "" "01695" "{PMID:Koyanagi 2019:31213501}" "mutations were not reported per patient." "" "?" "" "" "0" "" "" "Japan" "Unknown 1306"
"00369615" "" "" "" "1" "" "01695" "{PMID:Koyanagi 2019:31213501}" "mutations were not reported per patient." "" "?" "" "" "0" "" "" "Japan" "Unknown 1307"
"00369616" "" "" "" "1" "" "01695" "{PMID:Koyanagi 2019:31213501}" "mutations were not reported per patient." "" "?" "" "" "0" "" "" "Japan" "Unknown 1308"
"00369617" "" "" "" "1" "" "01695" "{PMID:Koyanagi 2019:31213501}" "mutations were not reported per patient." "" "?" "" "" "0" "" "" "Japan" "Unknown 1309"
"00369618" "" "" "" "1" "" "01695" "{PMID:Koyanagi 2019:31213501}" "mutations were not reported per patient." "" "?" "" "" "0" "" "" "Japan" "Unknown 1310"
"00369619" "" "" "" "1" "" "01695" "{PMID:Koyanagi 2019:31213501}" "mutations were not reported per patient." "" "?" "" "" "0" "" "" "Japan" "Unknown 1311"
"00369620" "" "" "" "1" "" "01695" "{PMID:Koyanagi 2019:31213501}" "mutations were not reported per patient." "" "?" "" "" "0" "" "" "Japan" "Unknown 1312"
"00369621" "" "" "" "1" "" "01695" "{PMID:Koyanagi 2019:31213501}" "mutations were not reported per patient." "" "?" "" "" "0" "" "" "Japan" "Unknown 1313"
"00369622" "" "" "" "1" "" "01695" "{PMID:Koyanagi 2019:31213501}" "mutations were not reported per patient." "" "?" "" "" "0" "" "" "Japan" "Unknown 1314"
"00369623" "" "" "" "1" "" "01695" "{PMID:Koyanagi 2019:31213501}" "mutations were not reported per patient." "" "?" "" "" "0" "" "" "Japan" "Unknown 1315"
"00369624" "" "" "" "1" "" "01695" "{PMID:Koyanagi 2019:31213501}" "mutations were not reported per patient." "" "?" "" "" "0" "" "" "Japan" "Unknown 1316"
"00369625" "" "" "" "1" "" "01695" "{PMID:Koyanagi 2019:31213501}" "mutations were not reported per patient." "" "?" "" "" "0" "" "" "Japan" "Unknown 1317"
"00369626" "" "" "" "1" "" "01695" "{PMID:Koyanagi 2019:31213501}" "mutations were not reported per patient." "" "?" "" "" "0" "" "" "Japan" "Unknown 1318"
"00369627" "" "" "" "1" "" "01695" "{PMID:Koyanagi 2019:31213501}" "mutations were not reported per patient." "" "?" "" "" "0" "" "" "Japan" "Unknown 1319"
"00369628" "" "" "" "1" "" "01695" "{PMID:Koyanagi 2019:31213501}" "mutations were not reported per patient." "" "?" "" "" "0" "" "" "Japan" "Unknown 1320"
"00369629" "" "" "" "1" "" "01695" "{PMID:Koyanagi 2019:31213501}" "mutations were not reported per patient." "" "?" "" "" "0" "" "" "Japan" "Unknown 1321"
"00369630" "" "" "" "1" "" "01695" "{PMID:Koyanagi 2019:31213501}" "mutations were not reported per patient." "" "?" "" "" "0" "" "" "Japan" "Unknown 1322"
"00369631" "" "" "" "1" "" "01695" "{PMID:Koyanagi 2019:31213501}" "mutations were not reported per patient." "" "?" "" "" "0" "" "" "Japan" "Unknown 1323"
"00369632" "" "" "" "1" "" "01695" "{PMID:Koyanagi 2019:31213501}" "mutations were not reported per patient." "" "?" "" "" "0" "" "" "Japan" "Unknown 1324"
"00369633" "" "" "" "1" "" "01695" "{PMID:Koyanagi 2019:31213501}" "mutations were not reported per patient." "" "?" "" "" "0" "" "" "Japan" "Unknown 1325"
"00369634" "" "" "" "1" "" "01695" "{PMID:Koyanagi 2019:31213501}" "mutations were not reported per patient." "" "?" "" "" "0" "" "" "Japan" "Unknown 1326"
"00369635" "" "" "" "1" "" "01695" "{PMID:Koyanagi 2019:31213501}" "mutations were not reported per patient." "" "?" "" "" "0" "" "" "Japan" "Unknown 1327"
"00369636" "" "" "" "1" "" "01695" "{PMID:Koyanagi 2019:31213501}" "mutations were not reported per patient." "" "?" "" "" "0" "" "" "Japan" "Unknown 1328"
"00369637" "" "" "" "1" "" "01695" "{PMID:Koyanagi 2019:31213501}" "mutations were not reported per patient." "" "?" "" "" "0" "" "" "Japan" "Unknown 1329"
"00369638" "" "" "" "1" "" "01695" "{PMID:Koyanagi 2019:31213501}" "mutations were not reported per patient." "" "?" "" "" "0" "" "" "Japan" "Unknown 1330"
"00369639" "" "" "" "1" "" "01695" "{PMID:Koyanagi 2019:31213501}" "mutations were not reported per patient." "" "?" "" "" "0" "" "" "Japan" "Unknown 1331"
"00369640" "" "" "" "1" "" "01695" "{PMID:Koyanagi 2019:31213501}" "mutations were not reported per patient." "" "?" "" "" "0" "" "" "Japan" "Unknown 1332"
"00369641" "" "" "" "1" "" "01695" "{PMID:Koyanagi 2019:31213501}" "mutations were not reported per patient." "" "?" "" "" "0" "" "" "Japan" "Unknown 1333"
"00369642" "" "" "" "1" "" "01695" "{PMID:Koyanagi 2019:31213501}" "mutations were not reported per patient." "" "?" "" "" "0" "" "" "Japan" "Unknown 1334"
"00369643" "" "" "" "1" "" "01695" "{PMID:Koyanagi 2019:31213501}" "mutations were not reported per patient." "" "?" "" "" "0" "" "" "Japan" "Unknown 1335"
"00369644" "" "" "" "1" "" "01695" "{PMID:Koyanagi 2019:31213501}" "mutations were not reported per patient." "" "?" "" "" "0" "" "" "Japan" "Unknown 1336"
"00369645" "" "" "" "1" "" "01695" "{PMID:Koyanagi 2019:31213501}" "mutations were not reported per patient." "" "?" "" "" "0" "" "" "Japan" "Unknown 1337"
"00369646" "" "" "" "1" "" "01695" "{PMID:Koyanagi 2019:31213501}" "mutations were not reported per patient." "" "?" "" "" "0" "" "" "Japan" "Unknown 1338"
"00369647" "" "" "" "1" "" "01695" "{PMID:Koyanagi 2019:31213501}" "mutations were not reported per patient." "" "?" "" "" "0" "" "" "Japan" "Unknown 1339"
"00369648" "" "" "" "1" "" "01695" "{PMID:Koyanagi 2019:31213501}" "mutations were not reported per patient." "" "?" "" "" "0" "" "" "Japan" "Unknown 1340"
"00369649" "" "" "" "1" "" "01695" "{PMID:Koyanagi 2019:31213501}" "mutations were not reported per patient." "" "?" "" "" "0" "" "" "Japan" "Unknown 1341"
"00369650" "" "" "" "1" "" "01695" "{PMID:Koyanagi 2019:31213501}" "mutations were not reported per patient." "" "?" "" "" "0" "" "" "Japan" "Unknown 1342"
"00369651" "" "" "" "1" "" "01695" "{PMID:Koyanagi 2019:31213501}" "mutations were not reported per patient." "" "?" "" "" "0" "" "" "Japan" "Unknown 1343"
"00369652" "" "" "" "1" "" "01695" "{PMID:Koyanagi 2019:31213501}" "mutations were not reported per patient." "" "?" "" "" "0" "" "" "Japan" "Unknown 1344"
"00369653" "" "" "" "1" "" "01695" "{PMID:Koyanagi 2019:31213501}" "mutations were not reported per patient." "" "?" "" "" "0" "" "" "Japan" "Unknown 1345"
"00369654" "" "" "" "1" "" "01695" "{PMID:Koyanagi 2019:31213501}" "mutations were not reported per patient." "" "?" "" "" "0" "" "" "Japan" "Unknown 1346"
"00369655" "" "" "" "1" "" "01695" "{PMID:Koyanagi 2019:31213501}" "mutations were not reported per patient." "" "?" "" "" "0" "" "" "Japan" "Unknown 1347"
"00369656" "" "" "" "1" "" "01695" "{PMID:Koyanagi 2019:31213501}" "mutations were not reported per patient." "" "?" "" "" "0" "" "" "Japan" "Unknown 1348"
"00369657" "" "" "" "1" "" "01695" "{PMID:Koyanagi 2019:31213501}" "mutations were not reported per patient." "" "?" "" "" "0" "" "" "Japan" "Unknown 1349"
"00369658" "" "" "" "1" "" "01695" "{PMID:Koyanagi 2019:31213501}" "mutations were not reported per patient." "" "?" "" "" "0" "" "" "Japan" "Unknown 1350"
"00369659" "" "" "" "1" "" "01695" "{PMID:Koyanagi 2019:31213501}" "mutations were not reported per patient." "" "?" "" "" "0" "" "" "Japan" "Unknown 1351"
"00369660" "" "" "" "1" "" "01695" "{PMID:Koyanagi 2019:31213501}" "mutations were not reported per patient." "" "?" "" "" "0" "" "" "Japan" "Unknown 1352"
"00369661" "" "" "" "1" "" "01695" "{PMID:Koyanagi 2019:31213501}" "mutations were not reported per patient." "" "?" "" "" "0" "" "" "Japan" "Unknown 1353"
"00369662" "" "" "" "1" "" "01695" "{PMID:Koyanagi 2019:31213501}" "mutations were not reported per patient." "" "?" "" "" "0" "" "" "Japan" "Unknown 1354"
"00369663" "" "" "" "1" "" "01695" "{PMID:Koyanagi 2019:31213501}" "mutations were not reported per patient." "" "?" "" "" "0" "" "" "Japan" "Unknown 1355"
"00369664" "" "" "" "1" "" "01695" "{PMID:Koyanagi 2019:31213501}" "mutations were not reported per patient." "" "?" "" "" "0" "" "" "Japan" "Unknown 1356"
"00369665" "" "" "" "1" "" "01695" "{PMID:Koyanagi 2019:31213501}" "mutations were not reported per patient." "" "?" "" "" "0" "" "" "Japan" "Unknown 1357"
"00369666" "" "" "" "1" "" "01695" "{PMID:Koyanagi 2019:31213501}" "mutations were not reported per patient." "" "?" "" "" "0" "" "" "Japan" "Unknown 1358"
"00369667" "" "" "" "1" "" "01695" "{PMID:Koyanagi 2019:31213501}" "mutations were not reported per patient." "" "?" "" "" "0" "" "" "Japan" "Unknown 1359"
"00369668" "" "" "" "1" "" "01695" "{PMID:Koyanagi 2019:31213501}" "mutations were not reported per patient." "" "?" "" "" "0" "" "" "Japan" "Unknown 1360"
"00369669" "" "" "" "1" "" "01695" "{PMID:Koyanagi 2019:31213501}" "mutations were not reported per patient." "" "?" "" "" "0" "" "" "Japan" "Unknown 1361"
"00369670" "" "" "" "1" "" "01695" "{PMID:Koyanagi 2019:31213501}" "mutations were not reported per patient." "" "?" "" "" "0" "" "" "Japan" "Unknown 1362"
"00369671" "" "" "" "1" "" "01695" "{PMID:Koyanagi 2019:31213501}" "mutations were not reported per patient." "" "?" "" "" "0" "" "" "Japan" "Unknown 1363"
"00369672" "" "" "" "1" "" "01695" "{PMID:Koyanagi 2019:31213501}" "mutations were not reported per patient." "" "?" "" "" "0" "" "" "Japan" "Unknown 1364"
"00369673" "" "" "" "1" "" "01695" "{PMID:Koyanagi 2019:31213501}" "mutations were not reported per patient." "" "?" "" "" "0" "" "" "Japan" "Unknown 1365"
"00369674" "" "" "" "1" "" "01695" "{PMID:Koyanagi 2019:31213501}" "mutations were not reported per patient." "" "?" "" "" "0" "" "" "Japan" "Unknown 1366"
"00369675" "" "" "" "1" "" "01695" "{PMID:Koyanagi 2019:31213501}" "mutations were not reported per patient." "" "?" "" "" "0" "" "" "Japan" "Unknown 1367"
"00369676" "" "" "" "1" "" "01695" "{PMID:Koyanagi 2019:31213501}" "mutations were not reported per patient." "" "?" "" "" "0" "" "" "Japan" "Unknown 1368"
"00369677" "" "" "" "1" "" "01695" "{PMID:Koyanagi 2019:31213501}" "mutations were not reported per patient." "" "?" "" "" "0" "" "" "Japan" "Unknown 1369"
"00369678" "" "" "" "1" "" "01695" "{PMID:Koyanagi 2019:31213501}" "mutations were not reported per patient." "" "?" "" "" "0" "" "" "Japan" "Unknown 1370"
"00369679" "" "" "" "1" "" "01695" "{PMID:Koyanagi 2019:31213501}" "mutations were not reported per patient." "" "?" "" "" "0" "" "" "Japan" "Unknown 1371"
"00369680" "" "" "" "1" "" "01695" "{PMID:Koyanagi 2019:31213501}" "mutations were not reported per patient." "" "?" "" "" "0" "" "" "Japan" "Unknown 1372"
"00369681" "" "" "" "1" "" "01695" "{PMID:Koyanagi 2019:31213501}" "mutations were not reported per patient." "" "?" "" "" "0" "" "" "Japan" "Unknown 1373"
"00369682" "" "" "" "1" "" "01695" "{PMID:Koyanagi 2019:31213501}" "mutations were not reported per patient." "" "?" "" "" "0" "" "" "Japan" "Unknown 1374"
"00369683" "" "" "" "1" "" "01695" "{PMID:Koyanagi 2019:31213501}" "mutations were not reported per patient." "" "?" "" "" "0" "" "" "Japan" "Unknown 1375"
"00369684" "" "" "" "1" "" "01695" "{PMID:Koyanagi 2019:31213501}" "mutations were not reported per patient." "" "?" "" "" "0" "" "" "Japan" "Unknown 1376"
"00369685" "" "" "" "1" "" "01695" "{PMID:Koyanagi 2019:31213501}" "mutations were not reported per patient." "" "?" "" "" "0" "" "" "Japan" "Unknown 1377"
"00369686" "" "" "" "1" "" "01695" "{PMID:Koyanagi 2019:31213501}" "mutations were not reported per patient." "" "?" "" "" "0" "" "" "Japan" "Unknown 1378"
"00369687" "" "" "" "1" "" "01695" "{PMID:Koyanagi 2019:31213501}" "mutations were not reported per patient." "" "?" "" "" "0" "" "" "Japan" "Unknown 1379"
"00369688" "" "" "" "1" "" "01695" "{PMID:Koyanagi 2019:31213501}" "mutations were not reported per patient." "" "?" "" "" "0" "" "" "Japan" "Unknown 1380"
"00369689" "" "" "" "1" "" "01695" "{PMID:Koyanagi 2019:31213501}" "mutations were not reported per patient." "" "?" "" "" "0" "" "" "Japan" "Unknown 1381"
"00369690" "" "" "" "1" "" "01695" "{PMID:Koyanagi 2019:31213501}" "mutations were not reported per patient." "" "?" "" "" "0" "" "" "Japan" "Unknown 1382"
"00369691" "" "" "" "1" "" "01695" "{PMID:Koyanagi 2019:31213501}" "mutations were not reported per patient." "" "?" "" "" "0" "" "" "Japan" "Unknown 1383"
"00369692" "" "" "" "1" "" "01695" "{PMID:Koyanagi 2019:31213501}" "mutations were not reported per patient." "" "?" "" "" "0" "" "" "Japan" "Unknown 1384"
"00369693" "" "" "" "1" "" "01695" "{PMID:Koyanagi 2019:31213501}" "mutations were not reported per patient." "" "?" "" "" "0" "" "" "Japan" "Unknown 1385"
"00369694" "" "" "" "1" "" "01695" "{PMID:Koyanagi 2019:31213501}" "mutations were not reported per patient." "" "?" "" "" "0" "" "" "Japan" "Unknown 1386"
"00369695" "" "" "" "1" "" "01695" "{PMID:Koyanagi 2019:31213501}" "mutations were not reported per patient." "" "?" "" "" "0" "" "" "Japan" "Unknown 1387"
"00369696" "" "" "" "1" "" "01695" "{PMID:Koyanagi 2019:31213501}" "mutations were not reported per patient." "" "?" "" "" "0" "" "" "Japan" "Unknown 1388"
"00369697" "" "" "" "1" "" "01695" "{PMID:Koyanagi 2019:31213501}" "mutations were not reported per patient." "" "?" "" "" "0" "" "" "Japan" "Unknown 1389"
"00369698" "" "" "" "1" "" "01695" "{PMID:Koyanagi 2019:31213501}" "mutations were not reported per patient." "" "?" "" "" "0" "" "" "Japan" "Unknown 1390"
"00369699" "" "" "" "1" "" "01695" "{PMID:Koyanagi 2019:31213501}" "mutations were not reported per patient." "" "?" "" "" "0" "" "" "Japan" "Unknown 1391"
"00369700" "" "" "" "1" "" "01695" "{PMID:Koyanagi 2019:31213501}" "mutations were not reported per patient." "" "?" "" "" "0" "" "" "Japan" "Unknown 1392"
"00369701" "" "" "" "1" "" "01695" "{PMID:Koyanagi 2019:31213501}" "mutations were not reported per patient." "" "?" "" "" "0" "" "" "Japan" "Unknown 1393"
"00369702" "" "" "" "1" "" "01695" "{PMID:Koyanagi 2019:31213501}" "mutations were not reported per patient." "" "?" "" "" "0" "" "" "Japan" "Unknown 1394"
"00369703" "" "" "" "1" "" "01695" "{PMID:Koyanagi 2019:31213501}" "mutations were not reported per patient." "" "?" "" "" "0" "" "" "Japan" "Unknown 1395"
"00369704" "" "" "" "1" "" "01695" "{PMID:Koyanagi 2019:31213501}" "mutations were not reported per patient." "" "?" "" "" "0" "" "" "Japan" "Unknown 1396"
"00369705" "" "" "" "1" "" "01695" "{PMID:Koyanagi 2019:31213501}" "mutations were not reported per patient." "" "?" "" "" "0" "" "" "Japan" "Unknown 1397"
"00369706" "" "" "" "1" "" "01695" "{PMID:Koyanagi 2019:31213501}" "mutations were not reported per patient." "" "?" "" "" "0" "" "" "Japan" "Unknown 1398"
"00369707" "" "" "" "1" "" "01695" "{PMID:Koyanagi 2019:31213501}" "mutations were not reported per patient." "" "?" "" "" "0" "" "" "Japan" "Unknown 1399"
"00369708" "" "" "" "1" "" "01695" "{PMID:Koyanagi 2019:31213501}" "mutations were not reported per patient." "" "?" "" "" "0" "" "" "Japan" "Unknown 1400"
"00369709" "" "" "" "1" "" "01695" "{PMID:Koyanagi 2019:31213501}" "mutations were not reported per patient." "" "?" "" "" "0" "" "" "Japan" "Unknown 1401"
"00369710" "" "" "" "1" "" "01695" "{PMID:Koyanagi 2019:31213501}" "mutations were not reported per patient." "" "?" "" "" "0" "" "" "Japan" "Unknown 1402"
"00369711" "" "" "" "1" "" "01695" "{PMID:Koyanagi 2019:31213501}" "mutations were not reported per patient." "" "?" "" "" "0" "" "" "Japan" "Unknown 1403"
"00369712" "" "" "" "1" "" "01695" "{PMID:Koyanagi 2019:31213501}" "mutations were not reported per patient." "" "?" "" "" "0" "" "" "Japan" "Unknown 1404"
"00369713" "" "" "" "1" "" "01695" "{PMID:Koyanagi 2019:31213501}" "mutations were not reported per patient." "" "?" "" "" "0" "" "" "Japan" "Unknown 1405"
"00369714" "" "" "" "1" "" "01695" "{PMID:Koyanagi 2019:31213501}" "mutations were not reported per patient." "" "?" "" "" "0" "" "" "Japan" "Unknown 1406"
"00369715" "" "" "" "1" "" "01695" "{PMID:Koyanagi 2019:31213501}" "mutations were not reported per patient." "" "?" "" "" "0" "" "" "Japan" "Unknown 1407"
"00369716" "" "" "" "1" "" "01695" "{PMID:Koyanagi 2019:31213501}" "mutations were not reported per patient." "" "?" "" "" "0" "" "" "Japan" "Unknown 1408"
"00369717" "" "" "" "1" "" "01695" "{PMID:Koyanagi 2019:31213501}" "mutations were not reported per patient." "" "?" "" "" "0" "" "" "Japan" "Unknown 1409"
"00369718" "" "" "" "1" "" "01695" "{PMID:Koyanagi 2019:31213501}" "mutations were not reported per patient." "" "?" "" "" "0" "" "" "Japan" "Unknown 1410"
"00369719" "" "" "" "1" "" "01695" "{PMID:Koyanagi 2019:31213501}" "mutations were not reported per patient." "" "?" "" "" "0" "" "" "Japan" "Unknown 1411"
"00369720" "" "" "" "1" "" "01695" "{PMID:Koyanagi 2019:31213501}" "mutations were not reported per patient." "" "?" "" "" "0" "" "" "Japan" "Unknown 1412"
"00369721" "" "" "" "1" "" "01695" "{PMID:Koyanagi 2019:31213501}" "mutations were not reported per patient." "" "?" "" "" "0" "" "" "Japan" "Unknown 1413"
"00369722" "" "" "" "1" "" "01695" "{PMID:Reich 2020:33185728}" "possible overlap with PMID 31799409" "F" "?" "Germany" "" "0" "" "" "" "2"
"00369723" "" "" "" "1" "" "01695" "{PMID:Reich 2020:33185728}" "possible overlap with PMID 31799409" "F" "?" "Germany" "" "0" "" "" "" "4"
"00369724" "" "" "" "1" "" "01695" "{PMID:Reich 2020:33185728}" "possible overlap with PMID 31799409" "M" "?" "Germany" "" "0" "" "" "" "16"
"00369725" "" "" "" "1" "" "01695" "{PMID:Reich 2020:33185728}" "possible overlap with PMID 31799409" "F" "?" "Germany" "" "0" "" "" "" "17"
"00369726" "" "" "" "1" "" "01695" "{PMID:Reich 2020:33185728}" "possible overlap with PMID 31799409" "F" "?" "Germany" "" "0" "" "" "" "18"
"00369727" "" "" "" "1" "" "01695" "{PMID:Reich 2020:33185728}" "possible overlap with PMID 31799409" "F" "?" "Germany" "" "0" "" "" "" "19"
"00369728" "" "" "" "1" "" "01695" "{PMID:Salmaninejad 2020:33173045}" "Multiple family members affected (F004)" "M" "yes" "Iran" "" "0" "" "" "Iran" "F004 III:7"
"00369729" "" "" "" "1" "" "01695" "{PMID:Salmaninejad 2020:33173045}" "Multiple family members affected (F004)" "M" "yes" "Iran" "" "0" "" "" "Iran" "F004 IV:6"
"00369730" "" "" "" "1" "" "01695" "{PMID:Salmaninejad 2020:33173045}" "Multiple family members affected (F004)" "F" "yes" "Iran" "" "0" "" "" "Iran" "F004 IV:9"
"00369731" "" "" "" "1" "" "01695" "{PMID:Salmaninejad 2020:33173045}" "Multiple family members affected (F004)" "F" "yes" "Iran" "" "0" "" "" "Iran" "F004 V:1"
"00369732" "" "" "" "1" "" "01695" "{PMID:Salmaninejad 2020:33173045}" "Multiple family members affected (F4)" "M" "yes" "Iran" "" "0" "" "" "Iran-NE" "F035 IV:3"
"00369733" "" "" "" "1" "" "01695" "{PMID:Salmaninejad 2020:33173045}" "Multiple family members affected (F4)" "F" "yes" "Iran" "" "0" "" "" "Iran-NE" "F035 IV:5"
"00369734" "" "" "" "1" "" "01695" "{PMID:Hu 2020:33129279}" "" "F" "?" "China" "" "0" "" "" "Han" "F1:II:2"
"00369735" "" "" "" "1" "" "01695" "{PMID:Hu 2020:33129279}" "" "M" "?" "China" "" "0" "" "" "Han" "F2:II:1"
"00369736" "" "" "" "1" "" "01695" "{PMID:Hu 2020:33129279}" "" "F" "?" "China" "" "0" "" "" "Han" "F3:II:1"
"00369737" "" "" "" "1" "" "01695" "{PMID:Hu 2020:33129279}" "" "M" "?" "China" "" "0" "" "" "Han" "F4:II:1"
"00369738" "" "" "" "1" "" "01695" "{PMID:Hu 2020:33129279}" "" "F" "?" "China" "" "0" "" "" "Han" "F5:II:1"
"00369739" "" "" "" "1" "" "01695" "{PMID:Hu 2020:33129279}" "" "F" "?" "China" "" "0" "" "" "Han" "F6:II:1"
"00369740" "" "" "" "1" "" "01695" "{PMID:Hu 2020:33129279}" "" "M" "?" "China" "" "0" "" "" "Han" "F7:II:1"
"00369741" "" "" "" "1" "" "01695" "{PMID:Hu 2020:33129279}" "" "M" "?" "China" "" "0" "" "" "Han" "F8:II:1"
"00369742" "" "" "" "1" "" "01695" "{PMID:Hu 2020:33129279}" "" "F" "?" "China" "" "0" "" "" "Han" "F9:II:1"
"00369743" "" "" "" "1" "" "01695" "{PMID:Hu 2020:33129279}" "" "M" "?" "China" "" "0" "" "" "Han" "F10:II:2"
"00369744" "" "" "" "1" "" "01695" "{PMID:Hu 2020:33129279}" "" "M" "?" "China" "" "0" "" "" "Han" "F11:II:2"
"00369745" "" "" "" "1" "" "01695" "{PMID:Hu 2020:33129279}" "" "M" "?" "China" "" "0" "" "" "Han" "F12:II:1"
"00369746" "" "" "" "1" "" "01695" "{PMID:Oh 2020:32445700}" "" "M" "?" "United States" "" "0" "" "" "" "P1"
"00369747" "" "" "" "1" "" "01695" "{PMID:Oh 2020:32445700}" "" "M" "?" "United States" "" "0" "" "" "" "P12"
"00369748" "" "" "" "1" "" "01695" "{PMID:Oh 2020:32445700}" "" "F" "?" "United States" "" "0" "" "" "" "P2"
"00369749" "" "" "" "1" "" "01695" "{PMID:Oh 2020:32445700}" "" "M" "?" "United States" "" "0" "" "" "" "P9"
"00369750" "" "" "" "1" "" "01695" "{PMID:Georgiou 2019:31812472}" "" "M" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "MM_0019"
"00369751" "" "" "" "1" "" "01695" "{PMID:Georgiou 2019:31812472}" "" "F" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "MM_0025"
"00369752" "" "" "" "1" "" "01695" "{PMID:Georgiou 2019:31812472}" "sibling of MM_0035" "F" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "MM_0034"
"00369753" "" "" "" "1" "" "01695" "{PMID:Georgiou 2019:31812472}" "sibling of MM_0034" "F" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "MM_0035"
"00369754" "" "" "" "1" "" "01695" "{PMID:Georgiou 2019:31812472}" "" "M" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "MM_0047"
"00369755" "" "" "" "1" "" "01695" "{PMID:Georgiou 2019:31812472}" "" "F" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "MM_0057"
"00369756" "" "" "" "1" "" "01695" "{PMID:Georgiou 2019:31812472}" "" "F" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "MM_0065"
"00369757" "" "" "" "1" "" "01695" "{PMID:Georgiou 2019:31812472}" "" "F" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "MM_0092"
"00369758" "" "" "" "1" "" "01695" "{PMID:Georgiou 2019:31812472}" "" "M" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "MM_0101"
"00369759" "" "" "" "1" "" "01695" "{PMID:Georgiou 2019:31812472}" "" "M" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "MM_0104"
"00369760" "" "" "" "1" "" "01695" "{PMID:Georgiou 2019:31812472}" "Sibling of MM_0129" "M" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "MM_0128"
"00369761" "" "" "" "1" "" "01695" "{PMID:Georgiou 2019:31812472}" "Sibling of MM_0128" "F" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "MM_0129"
"00369762" "" "" "" "1" "" "01695" "{PMID:Georgiou 2019:31812472}" "" "F" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "MM_0139"
"00369763" "" "" "" "1" "" "01695" "{PMID:Georgiou 2019:31812472}" "" "M" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "MM_0160"
"00369764" "" "" "" "1" "" "01695" "{PMID:Georgiou 2019:31812472}" "" "M" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "MM_0161"
"00369765" "" "" "" "1" "" "01695" "{PMID:Georgiou 2019:31812472}" "Sibling of MM_0243" "F" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "MM_0242"
"00369766" "" "" "" "1" "" "01695" "{PMID:Georgiou 2019:31812472}" "Sibling of MM_0242" "F" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "MM_0243"
"00369767" "" "" "" "1" "" "01695" "{PMID:Georgiou 2019:31812472}" "" "M" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "MM_0247"
"00369768" "" "" "" "1" "" "01695" "{PMID:Georgiou 2019:31812472}" "" "F" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "MM_0317"
"00369769" "" "" "" "1" "" "01695" "{PMID:Georgiou 2019:31812472}" "" "M" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "MM_0318"
"00369770" "" "" "" "1" "" "01695" "{PMID:Georgiou 2019:31812472}" "" "F" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "MM_0324"
"00369771" "" "" "" "1" "" "01695" "{PMID:Georgiou 2019:31812472}" "" "M" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "MM_0332"
"00369772" "" "" "" "1" "" "01695" "{PMID:Georgiou 2019:31812472}" "" "F" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "MM_0333"
"00369773" "" "" "" "1" "" "01695" "{PMID:Georgiou 2019:31812472}" "" "F" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "MM_0336"
"00369774" "" "" "" "1" "" "01695" "{PMID:Georgiou 2019:31812472}" "" "M" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "MM_0353"
"00369775" "" "" "" "1" "" "01695" "{PMID:Georgiou 2019:31812472}" "" "M" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "MM_0365"
"00369776" "" "" "" "1" "" "01695" "{PMID:Georgiou 2019:31812472}" "" "F" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "MM_0376"
"00369777" "" "" "" "1" "" "01695" "{PMID:Georgiou 2019:31812472}" "" "F" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "MM_0388"
"00369778" "" "" "" "1" "" "01695" "{PMID:Georgiou 2019:31812472}" "" "F" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "MM_0390"
"00369779" "" "" "" "1" "" "01695" "{PMID:Georgiou 2019:31812472}" "" "F" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "MM_0393"
"00369780" "" "" "" "1" "" "01695" "{PMID:Georgiou 2019:31812472}" "" "F" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "MM_0403"
"00369781" "" "" "" "1" "" "01695" "{PMID:Georgiou 2019:31812472}" "" "F" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "MM_0409"
"00369782" "" "" "" "1" "" "01695" "{PMID:Georgiou 2019:31812472}" "" "M" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "MM_0417"
"00369783" "" "" "" "1" "" "01695" "{PMID:Georgiou 2019:31812472}" "" "F" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "MM_0425"
"00369784" "" "" "" "1" "" "01695" "{PMID:Georgiou 2019:31812472}" "" "M" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "MM_0428"
"00369785" "" "" "" "1" "" "01695" "{PMID:Georgiou 2019:31812472}" "" "M" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "MM_0429"
"00369786" "" "" "" "1" "" "01695" "{PMID:Georgiou 2019:31812472}" "" "F" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "MM_0442"
"00369787" "" "" "" "1" "" "01695" "{PMID:Georgiou 2019:31812472}" "" "F" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "MM_0444"
"00369788" "" "" "" "1" "" "01695" "{PMID:Georgiou 2019:31812472}" "" "F" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "MM_0448"
"00369789" "" "" "" "1" "" "01695" "{PMID:Georgiou 2019:31812472}" "" "M" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "MM_0454"
"00369790" "" "" "" "1" "" "01695" "{PMID:Georgiou 2019:31812472}" "" "F" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "MM_0465"
"00369791" "" "" "" "1" "" "01695" "{PMID:Georgiou 2019:31812472}" "" "M" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "MM_0471"
"00369792" "" "" "" "1" "" "01695" "{PMID:Georgiou 2019:31812472}" "" "F" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "MM_0472"
"00369793" "" "" "" "1" "" "01695" "{PMID:Sodi 2018:30285522}" "" "" "?" "Italy" "" "0" "" "" "" "1"
"00369794" "" "" "" "1" "" "01695" "{PMID:Sodi 2018:30285522}" "" "" "?" "Italy" "" "0" "" "" "" "2"
"00369795" "" "" "" "1" "" "01695" "{PMID:Sodi 2018:30285522}" "" "" "?" "Italy" "" "0" "" "" "" "3"
"00369796" "" "" "" "1" "" "01695" "{PMID:Sodi 2018:30285522}" "" "" "?" "Italy" "" "0" "" "" "" "4"
"00369797" "" "" "" "1" "" "01695" "{PMID:Sodi 2018:30285522}" "" "" "?" "Italy" "" "0" "" "" "" "5"
"00369798" "" "" "" "1" "" "01695" "{PMID:Sodi 2018:30285522}" "" "" "?" "Italy" "" "0" "" "" "" "6"
"00369799" "" "" "" "1" "" "01695" "{PMID:Sodi 2018:30285522}" "likely a sibling of patient 8" "" "?" "Italy" "" "0" "" "" "" "7"
"00369800" "" "" "" "1" "" "01695" "{PMID:Sodi 2018:30285522}" "likely a sibling of patient 7" "" "?" "Italy" "" "0" "" "" "" "8"
"00369801" "" "" "" "1" "" "01695" "{PMID:Sodi 2018:30285522}" "" "" "?" "Italy" "" "0" "" "" "" "9"
"00369802" "" "" "" "1" "" "01695" "{PMID:Sodi 2018:30285522}" "" "" "?" "Italy" "" "0" "" "" "" "10"
"00369803" "" "" "" "1" "" "01695" "{PMID:Sodi 2018:30285522}" "" "" "?" "Italy" "" "0" "" "" "" "11"
"00369804" "" "" "" "1" "" "01695" "{PMID:Sodi 2018:30285522}" "" "" "?" "Italy" "" "0" "" "" "" "12"
"00369805" "" "" "" "1" "" "01695" "{PMID:Sodi 2018:30285522}" "" "" "?" "Italy" "" "0" "" "" "" "13"
"00369806" "" "" "" "1" "" "01695" "{PMID:Sodi 2018:30285522}" "" "" "?" "Italy" "" "0" "" "" "" "14"
"00369807" "" "" "" "1" "" "01695" "{PMID:Sodi 2018:30285522}" "" "" "?" "Italy" "" "0" "" "" "" "15"
"00369808" "" "" "" "1" "" "01695" "{PMID:Sodi 2018:30285522}" "" "" "?" "Italy" "" "0" "" "" "" "16"
"00369809" "" "" "" "1" "" "01695" "{PMID:Sodi 2018:30285522}" "" "" "?" "Italy" "" "0" "" "" "" "17"
"00369810" "" "" "" "1" "" "01695" "{PMID:Sodi 2018:30285522}" "" "" "?" "Italy" "" "0" "" "" "" "18"
"00369811" "" "" "" "1" "" "01695" "{PMID:Sodi 2018:30285522}" "" "" "?" "Italy" "" "0" "" "" "" "19"
"00369812" "" "" "" "1" "" "01695" "{PMID:Sodi 2018:30285522}" "" "" "?" "Italy" "" "0" "" "" "" "20"
"00369813" "" "" "" "1" "" "01695" "{PMID:Sodi 2018:30285522}" "" "" "?" "Italy" "" "0" "" "" "" "21"
"00369814" "" "" "" "1" "" "01695" "{PMID:Sodi 2018:30285522}" "" "" "?" "Italy" "" "0" "" "" "" "22"
"00369815" "" "" "" "1" "" "01695" "{PMID:Sodi 2018:30285522}" "" "" "?" "Italy" "" "0" "" "" "" "23"
"00369816" "" "" "" "1" "" "01695" "{PMID:Sodi 2018:30285522}" "" "" "?" "Italy" "" "0" "" "" "" "24"
"00369817" "" "" "" "1" "" "01695" "{PMID:Sodi 2018:30285522}" "" "" "?" "Italy" "" "0" "" "" "" "25"
"00369818" "" "" "" "1" "" "01695" "{PMID:Sodi 2018:30285522}" "" "" "?" "Italy" "" "0" "" "" "" "26"
"00369819" "" "" "" "1" "" "01695" "{PMID:Sodi 2018:30285522}" "" "" "?" "Italy" "" "0" "" "" "" "27"
"00369820" "" "" "" "1" "" "01695" "{PMID:Sodi 2018:30285522}" "" "" "?" "Italy" "" "0" "" "" "" "28"
"00369821" "" "" "" "1" "" "01695" "{PMID:Sodi 2018:30285522}" "" "" "?" "Italy" "" "0" "" "" "" "29"
"00369822" "" "" "" "1" "" "01695" "{PMID:Sodi 2018:30285522}" "" "" "?" "Italy" "" "0" "" "" "" "30"
"00369823" "" "" "" "1" "" "01695" "{PMID:Sodi 2018:30285522}" "" "" "?" "Italy" "" "0" "" "" "" "31"
"00369824" "" "" "" "1" "" "01695" "{PMID:Sodi 2018:30285522}" "" "" "?" "Italy" "" "0" "" "" "" "32"
"00369825" "" "" "" "1" "" "01695" "{PMID:Sodi 2018:30285522}" "" "" "?" "Italy" "" "0" "" "" "" "33"
"00369826" "" "" "" "1" "" "01695" "{PMID:Sodi 2018:30285522}" "" "" "?" "Italy" "" "0" "" "" "" "34"
"00369827" "" "" "" "1" "" "01695" "{PMID:Sodi 2018:30285522}" "" "" "?" "Italy" "" "0" "" "" "" "35"
"00369828" "" "" "" "1" "" "01695" "{PMID:Sodi 2018:30285522}" "" "" "?" "Italy" "" "0" "" "" "" "36"
"00369829" "" "" "" "1" "" "01695" "{PMID:Sodi 2018:30285522}" "" "" "?" "Italy" "" "0" "" "" "" "37"
"00369830" "" "" "" "1" "" "01695" "{PMID:Sodi 2018:30285522}" "" "" "?" "Italy" "" "0" "" "" "" "38"
"00369831" "" "" "" "1" "" "01695" "{PMID:Sodi 2018:30285522}" "" "" "?" "Italy" "" "0" "" "" "" "39"
"00369832" "" "" "" "1" "" "01695" "{PMID:Sodi 2018:30285522}" "" "" "?" "Italy" "" "0" "" "" "" "40"
"00369833" "" "" "" "1" "" "01695" "{PMID:Sodi 2018:30285522}" "" "" "?" "Italy" "" "0" "" "" "" "41"
"00369834" "" "" "" "1" "" "01695" "{PMID:Sodi 2018:30285522}" "" "" "?" "Italy" "" "0" "" "" "" "42"
"00369835" "" "" "" "1" "" "01695" "{PMID:Sodi 2018:30285522}" "" "" "?" "Italy" "" "0" "" "" "" "43"
"00369836" "" "" "" "1" "" "01695" "{PMID:Sodi 2018:30285522}" "" "" "?" "Italy" "" "0" "" "" "" "44"
"00369837" "" "" "" "1" "" "01695" "{PMID:Sodi 2018:30285522}" "" "" "?" "Italy" "" "0" "" "" "" "45"
"00369838" "" "" "" "1" "" "01695" "{PMID:Sodi 2018:30285522}" "" "" "?" "Italy" "" "0" "" "" "" "46"
"00369839" "" "" "" "1" "" "01695" "{PMID:Sodi 2018:30285522}" "" "" "?" "Italy" "" "0" "" "" "" "47"
"00369840" "" "" "" "1" "" "01695" "{PMID:Sodi 2018:30285522}" "" "" "?" "Italy" "" "0" "" "" "" "48"
"00369841" "" "" "" "1" "" "01695" "{PMID:Sodi 2018:30285522}" "" "" "?" "Italy" "" "0" "" "" "" "49"
"00369842" "" "" "" "1" "" "01695" "{PMID:Sodi 2018:30285522}" "" "" "?" "Italy" "" "0" "" "" "" "50"
"00369843" "" "" "" "1" "" "01695" "{PMID:Sodi 2018:30285522}" "" "" "?" "Italy" "" "0" "" "" "" "51"
"00369844" "" "" "" "1" "" "01695" "{PMID:Sodi 2018:30285522}" "" "" "?" "Italy" "" "0" "" "" "" "52"
"00369845" "" "" "" "1" "" "01695" "{PMID:Sodi 2018:30285522}" "" "" "?" "Italy" "" "0" "" "" "" "53"
"00369846" "" "" "" "1" "" "01695" "{PMID:Sodi 2018:30285522}" "" "" "?" "Italy" "" "0" "" "" "" "54"
"00369847" "" "" "" "1" "" "01695" "{PMID:Alabduljalil 2019:30771335}" "" "F" "?" "United States" "" "0" "" "" "" "1"
"00369848" "" "" "" "1" "" "01695" "{PMID:Alabduljalil 2019:30771335}" "" "F" "?" "United States" "" "0" "" "" "" "2"
"00369849" "" "" "" "1" "" "01695" "{PMID:Alabduljalil 2019:30771335}" "" "M" "?" "United States" "" "0" "" "" "" "4"
"00369850" "" "" "" "1" "" "01695" "{PMID:Alabduljalil 2019:30771335}" "" "F" "?" "United States" "" "0" "" "" "" "5"
"00369851" "" "" "" "1" "" "01695" "{PMID:Alabduljalil 2019:30771335}" "" "F" "?" "United States" "" "0" "" "" "" "6"
"00369852" "" "" "" "1" "" "01695" "{PMID:Alabduljalil 2019:30771335}" "" "M" "?" "United States" "" "0" "" "" "" "7"
"00369853" "" "" "" "1" "" "01695" "{PMID:Alabduljalil 2019:30771335}" "" "F" "?" "United States" "" "0" "" "" "" "8"
"00369854" "" "" "" "1" "" "01695" "{PMID:Alabduljalil 2019:30771335}" "" "M" "?" "United States" "" "0" "" "" "" "9"
"00369855" "" "" "" "1" "" "01695" "{PMID:Alabduljalil 2019:30771335}" "" "F" "?" "United States" "" "0" "" "" "" "10"
"00369856" "" "" "" "1" "" "01695" "{PMID:Alabduljalil 2019:30771335}" "" "M" "?" "United States" "" "0" "" "" "" "11"
"00369857" "" "" "" "1" "" "01695" "{PMID:Alabduljalil 2019:30771335}" "" "F" "?" "United States" "" "0" "" "" "" "12"
"00369858" "" "" "" "1" "" "01695" "{PMID:Alabduljalil 2019:30771335}" "" "F" "?" "United States" "" "0" "" "" "" "13"
"00369859" "" "" "" "1" "" "01695" "{PMID:Alabduljalil 2019:30771335}" "" "F" "?" "United States" "" "0" "" "" "" "14"
"00369860" "" "" "" "1" "" "01695" "{PMID:Alabduljalil 2019:30771335}" "" "F" "?" "United States" "" "0" "" "" "" "15"
"00369861" "" "" "" "1" "" "01695" "{PMID:Alabduljalil 2019:30771335}" "" "M" "?" "United States" "" "0" "" "" "" "17"
"00369862" "" "" "" "1" "" "01695" "{PMID:Alabduljalil 2019:30771335}" "" "F" "?" "United States" "" "0" "" "" "" "19"
"00369863" "" "" "" "1" "" "01695" "{PMID:Alabduljalil 2019:30771335}" "" "M" "?" "United States" "" "0" "" "" "" "20"
"00369864" "" "" "" "1" "" "01695" "{PMID:Alabduljalil 2019:30771335}" "" "F" "?" "United States" "" "0" "" "" "" "21"
"00369865" "" "" "" "1" "" "01695" "{PMID:Alabduljalil 2019:30771335}" "" "F" "?" "United States" "" "0" "" "" "" "22"
"00369866" "" "" "" "1" "" "01695" "{PMID:Alabduljalil 2019:30771335}" "" "F" "?" "United States" "" "0" "" "" "" "23"
"00369867" "" "" "" "1" "" "01695" "{PMID:Chen 2019:31015497}" "" "F" "?" "" "" "0" "" "" "white" "1"
"00369868" "" "" "" "1" "" "01695" "{PMID:Chen 2019:31015497}" "" "M" "?" "" "" "0" "" "" "white" "2"
"00369869" "" "" "" "1" "" "01695" "{PMID:Chen 2019:31015497}" "" "M" "?" "" "" "0" "" "" "white" "3"
"00369870" "" "" "" "1" "" "01695" "{PMID:Chen 2019:31015497}" "" "M" "?" "" "" "0" "" "" "white" "4"
"00369871" "" "" "" "1" "" "01695" "{PMID:Chen 2019:31015497}" "" "M" "?" "" "" "0" "" "" "white" "5"
"00369872" "" "" "" "1" "" "01695" "{PMID:Chen 2019:31015497}" "" "F" "?" "" "" "0" "" "" "white" "6"
"00369873" "" "" "" "1" "" "01695" "{PMID:Chen 2019:31015497}" "" "F" "?" "" "" "0" "" "" "white" "8"
"00369874" "" "" "" "1" "" "01695" "{PMID:Chen 2019:31015497}" "" "M" "?" "" "" "0" "" "" "white" "9"
"00369875" "" "" "" "1" "" "01695" "{PMID:Chen 2019:31015497}" "" "M" "?" "" "" "0" "" "" "white" "10"
"00369876" "" "" "" "1" "" "01695" "{PMID:Chen 2019:31015497}" "" "M" "?" "" "" "0" "" "" "Hispanic" "11"
"00369877" "" "" "" "1" "" "01695" "{PMID:Chen 2019:31015497}" "" "M" "?" "" "" "0" "" "" "white" "12"
"00369878" "" "" "" "1" "" "01695" "{PMID:Chen 2019:31015497}" "" "F" "?" "" "" "0" "" "" "white" "13"
"00369879" "" "" "" "1" "" "01695" "{PMID:Chen 2019:31015497}" "" "M" "?" "" "" "0" "" "" "white" "14"
"00369880" "" "" "" "1" "" "01695" "{PMID:Chen 2019:31015497}" "" "F" "?" "" "" "0" "" "" "white" "15"
"00369881" "" "" "" "1" "" "01695" "{PMID:Chen 2019:31015497}" "" "M" "?" "" "" "0" "" "" "white" "16"
"00369882" "" "" "" "1" "" "01695" "{PMID:Chen 2019:31015497}" "" "F" "?" "" "" "0" "" "" "white" "17"
"00369883" "" "" "" "1" "" "01695" "{PMID:Chen 2019:31015497}" "" "M" "?" "" "" "0" "" "" "white" "18"
"00369884" "" "" "" "1" "" "01695" "{PMID:Chen 2019:31015497}" "" "M" "?" "" "" "0" "" "" "white" "19"
"00369885" "" "" "" "1" "" "01695" "{PMID:Chen 2019:31015497}" "" "F" "?" "" "" "0" "" "" "white" "20"
"00369886" "" "" "" "1" "" "01695" "{PMID:Chen 2019:31015497}" "" "F" "?" "" "" "0" "" "" "white" "22"
"00369887" "" "" "" "1" "" "01695" "{PMID:Chen 2019:31015497}" "" "M" "?" "" "" "0" "" "" "white" "23"
"00369888" "" "" "" "1" "" "01695" "{PMID:Chen 2019:31015497}" "" "F" "?" "" "" "0" "" "" "white" "24"
"00369889" "" "" "" "1" "" "01695" "{PMID:Chen 2019:31015497}" "" "M" "?" "" "" "0" "" "" "white" "25"
"00369890" "" "" "" "1" "" "01695" "{PMID:Chen 2019:31015497}" "" "M" "?" "" "" "0" "" "" "white" "26"
"00369891" "" "" "" "1" "" "01695" "{PMID:Chen 2019:31015497}" "" "M" "?" "" "" "0" "" "" "white" "27"
"00369892" "" "" "" "1" "" "01695" "{PMID:Chen 2019:31015497}" "" "M" "?" "" "" "0" "" "" "Asia" "28"
"00369893" "" "" "" "1" "" "01695" "{PMID:Chen 2019:31015497}" "" "M" "?" "" "" "0" "" "" "white" "29"
"00369894" "" "" "" "1" "" "01695" "{PMID:Chen 2019:31015497}" "" "M" "?" "" "" "0" "" "" "white" "30"
"00369895" "" "" "" "1" "" "01695" "{PMID:Chen 2019:31015497}" "" "F" "?" "" "" "0" "" "" "white" "31"
"00369896" "" "" "" "1" "" "01695" "{PMID:Chen 2019:31015497}" "" "M" "?" "" "" "0" "" "" "white" "32"
"00369897" "" "" "" "1" "" "01695" "{PMID:Chen 2019:31015497}" "" "M" "?" "" "" "0" "" "" "India" "33"
"00369898" "" "" "" "1" "" "01695" "{PMID:Sung 2020:33261146}" "" "" "?" "" "" "0" "" "" "Han" "F01 P01"
"00369899" "" "" "" "1" "" "01695" "{PMID:Sung 2020:33261146}" "" "" "?" "" "" "0" "" "" "Han" "F02 P02"
"00369900" "" "" "" "1" "" "01695" "{PMID:Sung 2020:33261146}" "sibling of P32" "" "?" "" "" "0" "" "" "Han" "F03 P03"
"00369901" "" "" "" "1" "" "01695" "{PMID:Sung 2020:33261146}" "sibling of P03" "" "?" "" "" "0" "" "" "Han" "F03 P32"
"00369902" "" "" "" "1" "" "01695" "{PMID:Sung 2020:33261146}" "" "" "?" "" "" "0" "" "" "Han" "F04 P04"
"00369903" "" "" "" "1" "" "01695" "{PMID:Sung 2020:33261146}" "" "" "?" "" "" "0" "" "" "Han" "F05 P05"
"00369904" "" "" "" "1" "" "01695" "{PMID:Sung 2020:33261146}" "sibling of P07" "" "?" "" "" "0" "" "" "Han" "F06 P06"
"00369905" "" "" "" "1" "" "01695" "{PMID:Sung 2020:33261146}" "sibling of P06" "" "?" "" "" "0" "" "" "Han" "F06 P07"
"00369906" "" "" "" "1" "" "01695" "{PMID:Sung 2020:33261146}" "" "" "?" "" "" "0" "" "" "Han" "F07 P08"
"00369907" "" "" "" "1" "" "01695" "{PMID:Sung 2020:33261146}" "" "" "?" "" "" "0" "" "" "Han" "F08 P09"
"00369908" "" "" "" "1" "" "01695" "{PMID:Sung 2020:33261146}" "" "" "?" "" "" "0" "" "" "Han" "F09 P10"
"00369909" "" "" "" "1" "" "01695" "{PMID:Sung 2020:33261146}" "" "" "?" "" "" "0" "" "" "Han" "F10 P11"
"00369910" "" "" "" "1" "" "01695" "{PMID:Sung 2020:33261146}" "" "" "?" "" "" "0" "" "" "Han" "F11 P12"
"00369911" "" "" "" "1" "" "01695" "{PMID:Sung 2020:33261146}" "" "" "?" "" "" "0" "" "" "Han" "F12 P13"
"00369912" "" "" "" "1" "" "01695" "{PMID:Sung 2020:33261146}" "" "" "?" "" "" "0" "" "" "Han" "F13 P14"
"00369913" "" "" "" "1" "" "01695" "{PMID:Sung 2020:33261146}" "" "" "?" "" "" "0" "" "" "Han" "F14 P15"
"00369914" "" "" "" "1" "" "01695" "{PMID:Sung 2020:33261146}" "spouse of P17" "" "?" "" "" "0" "" "" "Han" "F15** P16"
"00369915" "" "" "" "1" "" "01695" "{PMID:Sung 2020:33261146}" "spouse of P16" "" "?" "" "" "0" "" "" "Han" "F15** P17"
"00369916" "" "" "" "1" "" "01695" "{PMID:Sung 2020:33261146}" "" "" "?" "" "" "0" "" "" "Han" "F16 P18"
"00369917" "" "" "" "1" "" "01695" "{PMID:Sung 2020:33261146}" "" "" "?" "" "" "0" "" "" "Han" "F17 P19"
"00369918" "" "" "" "1" "" "01695" "{PMID:Sung 2020:33261146}" "sibling of P21" "" "?" "" "" "0" "" "" "Han" "F18 P20"
"00369919" "" "" "" "1" "" "01695" "{PMID:Sung 2020:33261146}" "sibling of P20" "" "?" "" "" "0" "" "" "Han" "F18 P21"
"00369920" "" "" "" "1" "" "01695" "{PMID:Sung 2020:33261146}" "" "" "?" "" "" "0" "" "" "Han" "F19 P22"
"00369921" "" "" "" "1" "" "01695" "{PMID:Sung 2020:33261146}" "" "" "?" "" "" "0" "" "" "Han" "F20 P23"
"00369922" "" "" "" "1" "" "01695" "{PMID:Sung 2020:33261146}" "" "" "?" "" "" "0" "" "" "Han" "F21 P24"
"00369923" "" "" "" "1" "" "01695" "{PMID:Sung 2020:33261146}" "" "" "?" "" "" "0" "" "" "Han" "F22 P25"
"00369924" "" "" "" "1" "" "01695" "{PMID:Sung 2020:33261146}" "" "" "?" "" "" "0" "" "" "Han" "F23 P26"
"00369925" "" "" "" "1" "" "01695" "{PMID:Sung 2020:33261146}" "sibling of P28" "" "?" "" "" "0" "" "" "Han" "F24 P27"
"00369926" "" "" "" "1" "" "01695" "{PMID:Sung 2020:33261146}" "sibling of P27" "" "?" "" "" "0" "" "" "Han" "F24 P28"
"00369927" "" "" "" "1" "" "01695" "{PMID:Sung 2020:33261146}" "" "" "?" "" "" "0" "" "" "Han" "F25 P29"
"00369928" "" "" "" "1" "" "01695" "{PMID:Sung 2020:33261146}" "" "" "?" "" "" "0" "" "" "Han" "F26 P30"
"00369929" "" "" "" "1" "" "01695" "{PMID:Sung 2020:33261146}" "" "" "?" "" "" "0" "" "" "Han" "F27 P31"
"00369930" "" "" "" "1" "" "01695" "{PMID:Sung 2020:33261146}" "" "" "?" "" "" "0" "" "" "Han" "F28 P33"
"00369931" "" "" "" "1" "" "01695" "{PMID:Sung 2020:33261146}" "" "" "?" "" "" "0" "" "" "Han" "F29 P34"
"00369932" "" "" "" "1" "" "01695" "{PMID:Sung 2020:33261146}" "" "" "?" "" "" "0" "" "" "Han" "F30 P35"
"00369933" "" "" "" "1" "" "01695" "{PMID:Sung 2020:33261146}" "sibling of P37" "" "?" "" "" "0" "" "" "Han" "F31 P36"
"00369934" "" "" "" "1" "" "01695" "{PMID:Sung 2020:33261146}" "sibling of P36" "" "?" "" "" "0" "" "" "Han" "F31 P37"
"00369935" "" "" "" "1" "" "01695" "{PMID:Sun 2020:33301772}" "" "M" "?" "China" "" "0" "" "" "China" "1241"
"00369936" "" "" "" "1" "" "01695" "{PMID:Sun 2020:33301772}" "" "M" "?" "China" "" "0" "" "" "China" "1411"
"00369937" "" "" "" "1" "" "01695" "{PMID:Sun 2020:33301772}" "" "M" "?" "China" "" "0" "" "" "China" "1800"
"00369938" "" "" "" "1" "" "01695" "{PMID:Sun 2020:33301772}" "" "F" "?" "China" "" "0" "" "" "China" "1870"
"00369939" "" "" "" "1" "" "01695" "{PMID:Sun 2020:33301772}" "" "M" "?" "China" "" "0" "" "" "China" "1966"
"00369940" "" "" "" "1" "" "01695" "{PMID:Sun 2020:33301772}" "grandson of 2217-2, this allele is inherited from the other side of the family" "M" "?" "China" "" "0" "" "" "China" "2217"
"00369941" "" "" "" "1" "" "01695" "{PMID:Sun 2020:33301772}" "" "F" "?" "China" "" "0" "" "" "China" "2242"
"00369942" "" "" "" "1" "" "01695" "{PMID:Sun 2020:33301772}" "" "M" "?" "China" "" "0" "" "" "China" "2243"
"00369943" "" "" "" "1" "" "01695" "{PMID:Sun 2020:33301772}" "son of 2264-1; this allele is inherited from her" "M" "?" "China" "" "0" "" "" "China" "2264"
"00369944" "" "" "" "1" "" "01695" "{PMID:Sun 2020:33301772}" "" "M" "?" "China" "" "0" "" "" "China" "2290"
"00369945" "" "" "" "1" "" "01695" "{PMID:Sun 2020:33301772}" "" "F" "?" "China" "" "0" "" "" "China" "2407"
"00369946" "" "" "" "1" "" "01695" "{PMID:Sun 2020:33301772}" "" "M" "?" "China" "" "0" "" "" "China" "2470"
"00369947" "" "" "" "1" "" "01695" "{PMID:Sun 2020:33301772}" "" "M" "?" "China" "" "0" "" "" "China" "2559"
"00369948" "" "" "" "1" "" "01695" "{PMID:Sun 2020:33301772}" "" "M" "?" "China" "" "0" "" "" "China" "2601"
"00369949" "" "" "" "1" "" "01695" "{PMID:Sun 2020:33301772}" "" "F" "?" "China" "" "0" "" "" "China" "2759"
"00369950" "" "" "" "1" "" "01695" "{PMID:Sun 2020:33301772}" "niece of patient SRF844" "F" "?" "China" "" "0" "" "" "China" "3001"
"00369951" "" "" "" "1" "" "01695" "{PMID:Sun 2020:33301772}" "" "F" "?" "China" "" "0" "" "" "China" "3091"
"00369952" "" "" "" "1" "" "01695" "{PMID:Sun 2020:33301772}" "" "M" "?" "China" "" "0" "" "" "China" "3169"
"00369953" "" "" "" "1" "" "01695" "{PMID:Sun 2020:33301772}" "" "M" "?" "China" "" "0" "" "" "China" "3272"
"00369954" "" "" "" "1" "" "01695" "{PMID:Sun 2020:33301772}" "" "F" "?" "China" "" "0" "" "" "China" "3503"
"00369955" "" "" "" "1" "" "01695" "{PMID:Sun 2020:33301772}" "" "M" "?" "China" "" "0" "" "" "China" "3582"
"00369956" "" "" "" "1" "" "01695" "{PMID:Sun 2020:33301772}" "" "F" "?" "China" "" "0" "" "" "China" "3625"
"00369957" "" "" "" "1" "" "01695" "{PMID:Sun 2020:33301772}" "" "M" "?" "China" "" "0" "" "" "China" "3749"
"00369958" "" "" "" "1" "" "01695" "{PMID:Sun 2020:33301772}" "" "M" "?" "China" "" "0" "" "" "China" "3754"
"00369959" "" "" "" "1" "" "01695" "{PMID:Sun 2020:33301772}" "" "F" "?" "China" "" "0" "" "" "China" "3778"
"00369960" "" "" "" "1" "" "01695" "{PMID:Sun 2020:33301772}" "" "F" "?" "China" "" "0" "" "" "China" "3951"
"00369961" "" "" "" "1" "" "01695" "{PMID:Sun 2020:33301772}" "" "M" "?" "China" "" "0" "" "" "China" "3964"
"00369962" "" "" "" "1" "" "01695" "{PMID:Sun 2020:33301772}" "" "M" "?" "China" "" "0" "" "" "China" "3999"
"00369963" "" "" "" "1" "" "01695" "{PMID:Sun 2020:33301772}" "" "M" "?" "China" "" "0" "" "" "China" "4014"
"00369964" "" "" "" "1" "" "01695" "{PMID:Sun 2020:33301772}" "" "M" "?" "China" "" "0" "" "" "China" "4230"
"00369965" "" "" "" "1" "" "01695" "{PMID:Sun 2020:33301772}" "" "M" "?" "China" "" "0" "" "" "China" "4367"
"00369966" "" "" "" "1" "" "01695" "{PMID:Sun 2020:33301772}" "" "M" "?" "China" "" "0" "" "" "China" "4508"
"00369967" "" "" "" "1" "" "01695" "{PMID:Sun 2020:33301772}" "niece of patient 4601-1; this is the shared allele" "F" "?" "China" "" "0" "" "" "China" "4601"
"00369968" "" "" "" "1" "" "01695" "{PMID:Sun 2020:33301772}" "" "F" "?" "China" "" "0" "" "" "China" "4736"
"00369969" "" "" "" "1" "" "01695" "{PMID:Sun 2020:33301772}" "" "F" "?" "China" "" "0" "" "" "China" "4793"
"00369970" "" "" "" "1" "" "01695" "{PMID:Sun 2020:33301772}" "" "M" "?" "China" "" "0" "" "" "China" "4893"
"00369971" "" "" "" "1" "" "01695" "{PMID:Sun 2020:33301772}" "" "M" "?" "China" "" "0" "" "" "China" "4901"
"00369972" "" "" "" "1" "" "01695" "{PMID:Sun 2020:33301772}" "" "M" "?" "China" "" "0" "" "" "China" "5084"
"00369973" "" "" "" "1" "" "01695" "{PMID:Sun 2020:33301772}" "" "M" "?" "China" "" "0" "" "" "China" "5099"
"00369974" "" "" "" "1" "" "01695" "{PMID:Sun 2020:33301772}" "" "F" "?" "China" "" "0" "" "" "China" "5135"
"00369975" "" "" "" "1" "" "01695" "{PMID:Sun 2020:33301772}" "daughter of SRF1085, this allele is inherited from the unaffected mother" "F" "?" "China" "" "0" "" "" "China" "5142"
"00369976" "" "" "" "1" "" "01695" "{PMID:Sun 2020:33301772}" "" "M" "?" "China" "" "0" "" "" "China" "5190"
"00369977" "" "" "" "1" "" "01695" "{PMID:Sun 2020:33301772}" "" "M" "?" "China" "" "0" "" "" "China" "5208"
"00369978" "" "" "" "1" "" "01695" "{PMID:Sun 2020:33301772}" "" "M" "?" "China" "" "0" "" "" "China" "5312"
"00369979" "" "" "" "1" "" "01695" "{PMID:Sun 2020:33301772}" "" "M" "?" "China" "" "0" "" "" "China" "5333"
"00369980" "" "" "" "1" "" "01695" "{PMID:Sun 2020:33301772}" "" "F" "?" "China" "" "0" "" "" "China" "5349"
"00369981" "" "" "" "1" "" "01695" "{PMID:Sun 2020:33301772}" "" "M" "?" "China" "" "0" "" "" "China" "5463"
"00369982" "" "" "" "1" "" "01695" "{PMID:Sun 2020:33301772}" "" "F" "?" "China" "" "0" "" "" "China" "5504"
"00369983" "" "" "" "1" "" "01695" "{PMID:Sun 2020:33301772}" "" "F" "?" "China" "" "0" "" "" "China" "5585"
"00369984" "" "" "" "1" "" "01695" "{PMID:Sun 2020:33301772}" "" "M" "?" "China" "" "0" "" "" "China" "5635"
"00369985" "" "" "" "1" "" "01695" "{PMID:Sun 2020:33301772}" "" "F" "?" "China" "" "0" "" "" "China" "5937"
"00369986" "" "" "" "1" "" "01695" "{PMID:Sun 2020:33301772}" "" "F" "?" "China" "" "0" "" "" "China" "6007"
"00369987" "" "" "" "1" "" "01695" "{PMID:Sun 2020:33301772}" "" "F" "?" "China" "" "0" "" "" "China" "6012"
"00369988" "" "" "" "1" "" "01695" "{PMID:Sun 2020:33301772}" "" "M" "?" "China" "" "0" "" "" "China" "6030"
"00369989" "" "" "" "1" "" "01695" "{PMID:Sun 2020:33301772}" "" "F" "?" "China" "" "0" "" "" "China" "6064"
"00369990" "" "" "" "1" "" "01695" "{PMID:Sun 2020:33301772}" "" "F" "?" "China" "" "0" "" "" "China" "6081"
"00369991" "" "" "" "1" "" "01695" "{PMID:Sun 2020:33301772}" "" "M" "?" "China" "" "0" "" "" "China" "6135"
"00369992" "" "" "" "1" "" "01695" "{PMID:Sun 2020:33301772}" "" "F" "?" "China" "" "0" "" "" "China" "6491"
"00369993" "" "" "" "1" "" "01695" "{PMID:Sun 2020:33301772}" "" "M" "?" "China" "" "0" "" "" "China" "6501"
"00369994" "" "" "" "1" "" "01695" "{PMID:Sun 2020:33301772}" "" "F" "?" "China" "" "0" "" "" "China" "6561"
"00369995" "" "" "" "1" "" "01695" "{PMID:Sun 2020:33301772}" "" "F" "?" "China" "" "0" "" "" "China" "6683"
"00369996" "" "" "" "1" "" "01695" "{PMID:Sun 2020:33301772}" "" "F" "?" "China" "" "0" "" "" "China" "6686"
"00369997" "" "" "" "1" "" "01695" "{PMID:Sun 2020:33301772}" "" "M" "?" "China" "" "0" "" "" "China" "6706"
"00369998" "" "" "" "1" "" "01695" "{PMID:Sun 2020:33301772}" "" "F" "?" "China" "" "0" "" "" "China" "6905"
"00369999" "" "" "" "1" "" "01695" "{PMID:Sun 2020:33301772}" "" "F" "?" "China" "" "0" "" "" "China" "6960"
"00370000" "" "" "" "1" "" "01695" "{PMID:Sun 2020:33301772}" "" "M" "?" "China" "" "0" "" "" "China" "7087"
"00370001" "" "" "" "1" "" "01695" "{PMID:Sun 2020:33301772}" "" "M" "?" "China" "" "0" "" "" "China" "7189"
"00370002" "" "" "" "1" "" "01695" "{PMID:Sun 2020:33301772}" "" "M" "?" "China" "" "0" "" "" "China" "7427"
"00370003" "" "" "" "1" "" "01695" "{PMID:Sun 2020:33301772}" "" "M" "?" "China" "" "0" "" "" "China" "7565"
"00370004" "" "" "" "1" "" "01695" "{PMID:Sun 2020:33301772}" "" "M" "?" "China" "" "0" "" "" "China" "7687"
"00370005" "" "" "" "1" "" "01695" "{PMID:Sun 2020:33301772}" "" "F" "?" "China" "" "0" "" "" "China" "7832"
"00370006" "" "" "" "1" "" "01695" "{PMID:Sun 2020:33301772}" "" "F" "?" "China" "" "0" "" "" "China" "7878"
"00370007" "" "" "" "1" "" "01695" "{PMID:Sun 2020:33301772}" "" "M" "?" "China" "" "0" "" "" "China" "7890"
"00370008" "" "" "" "1" "" "01695" "{PMID:Sun 2020:33301772}" "" "M" "?" "China" "" "0" "" "" "China" "7962"
"00370009" "" "" "" "1" "" "01695" "{PMID:Sun 2020:33301772}" "" "M" "?" "China" "" "0" "" "" "China" "8052"
"00370010" "" "" "" "1" "" "01695" "{PMID:Sun 2020:33301772}" "" "M" "?" "China" "" "0" "" "" "China" "8054"
"00370011" "" "" "" "1" "" "01695" "{PMID:Sun 2020:33301772}" "" "F" "?" "China" "" "0" "" "" "China" "8124"
"00370012" "" "" "" "1" "" "01695" "{PMID:Sun 2020:33301772}" "" "F" "?" "China" "" "0" "" "" "China" "8442"
"00370013" "" "" "" "1" "" "01695" "{PMID:Sun 2020:33301772}" "" "M" "?" "China" "" "0" "" "" "China" "8465"
"00370014" "" "" "" "1" "" "01695" "{PMID:Sun 2020:33301772}" "" "M" "?" "China" "" "0" "" "" "China" "8541"
"00370015" "" "" "" "1" "" "01695" "{PMID:Sun 2020:33301772}" "" "F" "?" "China" "" "0" "" "" "China" "8542"
"00370016" "" "" "" "1" "" "01695" "{PMID:Sun 2020:33301772}" "" "M" "?" "China" "" "0" "" "" "China" "8640"
"00370017" "" "" "" "1" "" "01695" "{PMID:Sun 2020:33301772}" "" "F" "?" "China" "" "0" "" "" "China" "8667"
"00370018" "" "" "" "1" "" "01695" "{PMID:Sun 2020:33301772}" "" "F" "?" "China" "" "0" "" "" "China" "8710"
"00370019" "" "" "" "1" "" "01695" "{PMID:Sun 2020:33301772}" "" "F" "?" "China" "" "0" "" "" "China" "9289"
"00370020" "" "" "" "1" "" "01695" "{PMID:Sun 2020:33301772}" "" "M" "?" "China" "" "0" "" "" "China" "9515"
"00370021" "" "" "" "1" "" "01695" "{PMID:Sun 2020:33301772}" "" "M" "?" "China" "" "0" "" "" "China" "9625"
"00370022" "" "" "" "1" "" "01695" "{PMID:Sun 2020:33301772}" "" "F" "?" "China" "" "0" "" "" "China" "9647"
"00370023" "" "" "" "1" "" "01695" "{PMID:Sun 2020:33301772}" "" "M" "?" "China" "" "0" "" "" "China" "9794"
"00370024" "" "" "" "1" "" "01695" "{PMID:Sun 2020:33301772}" "" "F" "?" "China" "" "0" "" "" "China" "9956"
"00370025" "" "" "" "1" "" "01695" "{PMID:Sun 2020:33301772}" "" "M" "?" "China" "" "0" "" "" "China" "56"
"00370026" "" "" "" "1" "" "01695" "{PMID:Sun 2020:33301772}" "" "M" "?" "China" "" "0" "" "" "China" "617"
"00370027" "" "" "" "1" "" "01695" "{PMID:Sun 2020:33301772}" "" "M" "?" "China" "" "0" "" "" "China" "738"
"00370028" "" "" "" "1" "" "01695" "{PMID:Sun 2020:33301772}" "" "M" "?" "China" "" "0" "" "" "China" "939"
"00370029" "" "" "" "1" "" "01695" "{PMID:Sun 2020:33301772}" "likely a sibling of patient 2217-2" "F" "?" "China" "" "0" "" "" "China" "2217-1"
"00370030" "" "" "" "1" "" "01695" "{PMID:Sun 2020:33301772}" "likely a sibling of patient 2217-1" "M" "?" "China" "" "0" "" "" "China" "2217-2"
"00370031" "" "" "" "1" "" "01695" "{PMID:Sun 2020:33301772}" "likely a sibling of patient 2264-2" "F" "?" "China" "" "0" "" "" "China" "2264-1"
"00370032" "" "" "" "1" "" "01695" "{PMID:Sun 2020:33301772}" "likely a sibling of patient 2264-1" "F" "?" "China" "" "0" "" "" "China" "2264-2"
"00370033" "" "" "" "1" "" "01695" "{PMID:Sun 2020:33301772}" "" "M" "?" "China" "" "0" "" "" "China" "2601-1"
"00370034" "" "" "" "1" "" "01695" "{PMID:Sun 2020:33301772}" "" "F" "?" "China" "" "0" "" "" "China" "4601-1"
"00370035" "" "" "" "1" "" "01695" "{PMID:Sun 2020:33301772}" "" "M" "?" "China" "" "0" "" "" "China" "7565-1"
"00370036" "" "" "" "1" "" "01695" "{PMID:Sun 2020:33301772}" "" "M" "?" "China" "" "0" "" "" "China" "8710 (2)"
"00370037" "" "" "" "1" "" "01695" "{PMID:Sun 2020:33301772}" "" "M" "?" "China" "" "0" "" "" "China" "HS04"
"00370038" "" "" "" "1" "" "01695" "{PMID:Sun 2020:33301772}" "" "M" "?" "China" "" "0" "" "" "China" "R02"
"00370039" "" "" "" "1" "" "01695" "{PMID:Sun 2020:33301772}" "" "M" "?" "China" "" "0" "" "" "China" "R03"
"00370040" "" "" "" "1" "" "01695" "{PMID:Sun 2020:33301772}" "" "M" "?" "China" "" "0" "" "" "China" "S33"
"00370041" "" "" "" "1" "" "01695" "{PMID:Sun 2020:33301772}" "" "F" "?" "China" "" "0" "" "" "China" "S34"
"00370042" "" "" "" "1" "" "01695" "{PMID:Sun 2020:33301772}" "" "M" "?" "China" "" "0" "" "" "China" "S66"
"00370043" "" "" "" "1" "" "01695" "{PMID:Sun 2020:33301772}" "" "M" "?" "China" "" "0" "" "" "China" "S67"
"00370044" "" "" "" "1" "" "01695" "{PMID:Sun 2020:33301772}" "" "M" "?" "China" "" "0" "" "" "China" "SRF1031"
"00370045" "" "" "" "1" "" "01695" "{PMID:Sun 2020:33301772}" "" "M" "?" "China" "" "0" "" "" "China" "SRF1085"
"00370046" "" "" "" "1" "" "01695" "{PMID:Sun 2020:33301772}" "" "F" "?" "China" "" "0" "" "" "China" "SRF1118"
"00370047" "" "" "" "1" "" "01695" "{PMID:Sun 2020:33301772}" "" "M" "?" "China" "" "0" "" "" "China" "SRF1979"
"00370048" "" "" "" "1" "" "01695" "{PMID:Sun 2020:33301772}" "" "F" "?" "China" "" "0" "" "" "China" "SRF844"
"00370049" "" "" "" "1" "" "01695" "{PMID:Sun 2020:33301772}" "" "F" "?" "China" "" "0" "" "" "China" "SRF982"
"00370050" "" "" "" "1" "" "01695" "{PMID:Ibanez 2020:33369172}" "" "" "?" "United States" "" "0" "" "" "" "Patient 8"
"00370051" "" "" "" "1" "" "01695" "{PMID:Ibanez 2020:33369172}" "" "" "?" "United States" "" "0" "" "" "" "Patient 9"
"00370052" "" "" "" "1" "" "01695" "{PMID:Ibanez 2020:33369172}" "" "" "?" "United States" "" "0" "" "" "" "Patient 10"
"00370053" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2011-132-010"
"00370054" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2011-181-003"
"00370055" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2011-192-012"
"00370056" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2011-258-018"
"00370057" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2011-299-011"
"00370058" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "German, Dutch, Indian, Irish" "2011-320-015"
"00370059" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "white" "2012-005-013"
"00370060" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "African American" "2012-010-017"
"00370061" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2012-013-002"
"00370062" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2012-068-010"
"00370063" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "white" "2012-076-024"
"00370064" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2012-087-006"
"00370065" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "Brazil" "2012-100-009"
"00370066" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "Afghanistan" "2012-117-024"
"00370067" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2012-179-016"
"00370068" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2012-200-017"
"00370069" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2012-311-029"
"00370070" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "Nigeria" "2012-313-009"
"00370071" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "Lebanon" "2012-326-038"
"00370072" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "white" "2012-353-017"
"00370073" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "Italy" "2013-022-016"
"00370074" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "white" "2013-056-017"
"00370075" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2013-158-011"
"00370076" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "Scottish, Czechoslovakian, English, Scottish, German, Irish, Cherokee" "2013-162-011"
"00370077" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2013-168-016"
"00370078" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "Europe" "2013-171-011"
"00370079" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "African American" "2013-190-003"
"00370080" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "white;Russia" "2013-248-010"
"00370081" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "Belgian, Icelandic, French" "2013-255-028"
"00370082" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2013-283-017"
"00370083" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "Iran" "2013-283-022"
"00370084" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "white;Europe-N" "2013-316-016"
"00370085" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "white" "2014-057-032"
"00370086" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2014-072-014"
"00370087" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "Great Britain (United Kingdom)" "2014-100-042"
"00370088" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2014-190-006"
"00370089" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "white" "2014-224-007"
"00370090" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "Hispanic" "2014-279-009"
"00370091" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2014-282-040"
"00370092" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "Germany;Ireland" "2014-317-001"
"00370093" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2014-346-029"
"00370094" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "Irish, English" "2015-016-027"
"00370095" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "England;Ireland" "2015-016-028"
"00370096" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "white" "2015-041-008"
"00370097" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "Hispanic, Irish, Native American" "2015-070-050"
"00370098" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2015-071-031"
"00370099" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2015-124-026"
"00370100" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2015-135-050"
"00370101" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2015-135-052"
"00370102" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2015-142-010"
"00370103" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2015-194-032"
"00370104" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2015-218-020"
"00370105" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "Italian, German, Irish" "2015-243-035"
"00370106" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2015-260-008"
"00370107" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "black" "2015-288-057"
"00370108" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2015-341-010"
"00370109" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2015-351-015"
"00370110" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2015-352-037"
"00370111" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "Scandanavia" "2016-033-061"
"00370112" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "Somalia" "2016-078-100"
"00370113" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2016-092-041"
"00370114" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "Pakistan" "2016-127-046"
"00370115" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2016-165-068"
"00370116" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "Jewish-Ashkenazi" "2016-182-096"
"00370117" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "white" "2016-190-070"
"00370118" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "Jewish-Ashkenazi" "2016-196-026"
"00370119" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "India" "2016-209-114"
"00370120" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "French Canadian" "2016-210-042"
"00370121" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2016-217-002"
"00370122" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "German, Irish, Scottish" "2016-230-009"
"00370123" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "white" "2016-243-227"
"00370124" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "white;Great Britain (United Kingdom)" "2016-244-043"
"00370125" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "white" "2016-252-158"
"00370126" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "Jamaica;Great Britain (United Kingdom)" "2016-253-135"
"00370127" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "Kurdish, Arab" "2016-253-138"
"00370128" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "white" "2016-258-024"
"00370129" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "Dutch, English" "2016-258-107"
"00370130" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "white" "2016-272-548"
"00370131" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2016-272-550"
"00370132" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "China" "2016-279-099"
"00370133" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "white" "2016-288-168"
"00370134" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "Netherlands, British Isles, Western European" "2016-293-045"
"00370135" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "Iceland" "" "0" "" "" "" "2016-295-138"
"00370136" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2016-301-048"
"00370137" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "Iceland" "" "0" "" "" "" "2016-301-056"
"00370138" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2016-320-095"
"00370139" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2016-323-007"
"00370140" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2017-004-021"
"00370141" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2017-011-142"
"00370142" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "Iceland" "" "0" "" "" "" "2017-023-037"
"00370143" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "German, Itallian, Polish" "2017-024-069"
"00370144" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "white" "2017-054-081"
"00370145" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2017-054-119"
"00370146" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "French Canadian" "2017-055-031"
"00370147" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2017-055-067"
"00370148" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2017-083-084"
"00370149" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2017-083-088"
"00370150" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2017-083-091"
"00370151" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2017-083-096"
"00370152" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2017-083-097"
"00370153" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2017-083-103"
"00370154" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2017-083-105"
"00370155" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2017-083-110"
"00370156" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2017-083-131"
"00370157" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2017-083-138"
"00370158" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2017-083-146"
"00370159" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2017-083-153"
"00370160" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "white" "2017-087-036"
"00370161" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2017-090-165"
"00370162" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2017-090-169"
"00370163" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2017-090-171"
"00370164" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2017-090-174"
"00370165" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2017-090-187"
"00370166" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2017-090-188"
"00370167" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2017-090-215"
"00370168" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2017-090-228"
"00370169" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2017-090-233"
"00370170" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2017-090-236"
"00370171" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2017-090-238"
"00370172" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2017-090-257"
"00370173" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2017-090-261"
"00370174" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2017-097-183"
"00370175" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2017-097-184"
"00370176" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2017-097-211"
"00370177" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2017-097-212"
"00370178" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2017-097-215"
"00370179" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2017-125-119"
"00370180" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2017-125-126"
"00370181" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2017-125-132"
"00370182" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2017-125-147"
"00370183" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2017-125-148"
"00370184" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2017-125-158"
"00370185" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2017-145-175"
"00370186" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2017-153-180"
"00370187" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2017-153-181"
"00370188" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "white" "2017-163-039"
"00370189" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "African American" "2017-167-225"
"00370190" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "white" "2017-171-034"
"00370191" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "white" "2017-177-002"
"00370192" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2017-178-090"
"00370193" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2017-178-097"
"00370194" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2017-178-098"
"00370195" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2017-187-145"
"00370196" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2017-188-076"
"00370197" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "white" "2017-194-095"
"00370198" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2017-194-118"
"00370199" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2017-194-122"
"00370200" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2017-194-127"
"00370201" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2017-194-128"
"00370202" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2017-194-132"
"00370203" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2017-194-135"
"00370204" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2017-194-136"
"00370205" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2017-194-137"
"00370206" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2017-194-140"
"00370207" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "white" "2017-202-023"
"00370208" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "England" "2017-208-021"
"00370209" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "England;Russia;Germany" "2017-208-028"
"00370210" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2017-209-148"
"00370211" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2017-209-153"
"00370212" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "Eastern European, Irish, Scottish, United Kingdom, Ukranian" "2017-215-113"
"00370213" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "white;Europe-N" "2017-217-024"
"00370214" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "white" "2017-233-038"
"00370215" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "Europe-N;white" "2017-242-274"
"00370216" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2017-242-337"
"00370217" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2017-244-045"
"00370218" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2017-244-108"
"00370219" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2017-244-111"
"00370220" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2017-244-113"
"00370221" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2017-249-346"
"00370222" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2017-256-374"
"00370223" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2017-259-008"
"00370224" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2017-259-025"
"00370225" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "Afghanistan" "2017-264-096"
"00370226" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2017-272-087"
"00370227" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2017-272-088"
"00370228" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2017-272-089"
"00370229" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2017-272-092"
"00370230" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2017-272-093"
"00370231" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2017-272-094"
"00370232" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2017-272-097"
"00370233" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2017-272-099"
"00370234" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2017-272-102"
"00370235" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2017-272-105"
"00370236" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2017-272-107"
"00370237" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2017-272-111"
"00370238" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2017-272-116"
"00370239" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "German, Jamaican, British" "2017-286-119"
"00370240" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2017-290-268"
"00370241" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2017-290-269"
"00370242" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2017-290-272"
"00370243" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2017-290-275"
"00370244" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2017-290-278"
"00370245" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "Kuwaiti, Iraq" "2017-293-009"
"00370246" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "white" "2017-293-046"
"00370247" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2017-293-103"
"00370248" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "England;Ireland;Germany" "2017-300-048"
"00370249" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "white" "2017-306-045"
"00370250" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2017-335-082"
"00370251" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "French Canadian" "2017-339-067"
"00370252" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2017-342-110"
"00370253" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2017-347-229"
"00370254" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "England;Scotland;Germany" "2017-354-435"
"00370255" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "white" "2018-009-082"
"00370256" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "Palestine" "2018-030-073"
"00370257" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "white" "2018-032-048"
"00370258" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "China" "2018-037-052"
"00370259" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2018-039-115"
"00370260" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "China" "2018-054-142"
"00370261" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "white;Taiwan" "2018-061-098"
"00370262" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2018-071-029"
"00370263" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "white" "2018-076-120"
"00370264" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2018-078-058"
"00370265" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2018-078-069"
"00370266" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2018-078-071"
"00370267" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2018-078-074"
"00370268" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2018-078-079"
"00370269" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2018-078-089"
"00370270" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2018-078-090"
"00370271" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2018-078-096"
"00370272" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2018-078-098"
"00370273" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2018-078-101"
"00370274" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2018-078-104"
"00370275" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2018-078-105"
"00370276" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2018-080-342"
"00370277" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "Africa;Haiti" "2018-087-072"
"00370278" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "white, German, European, Irish" "2018-087-107"
"00370279" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2018-088-133"
"00370280" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2018-088-140"
"00370281" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2018-088-148"
"00370282" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2018-088-157"
"00370283" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2018-088-159"
"00370284" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "white" "2018-092-031"
"00370285" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2018-096-130"
"00370286" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2018-096-131"
"00370287" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2018-096-132"
"00370288" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2018-099-005"
"00370289" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "English, Ukranian, French, Irish" "2018-102-102"
"00370290" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "white" "2018-103-040"
"00370291" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2018-108-042"
"00370292" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "Germany" "2018-115-084"
"00370293" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "Jamaican, West Indian" "2018-116-095"
"00370294" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2018-134-063"
"00370295" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "Australia;white" "2018-149-067"
"00370296" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "France;Norway" "2018-151-192"
"00370297" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2018-166-037"
"00370298" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2018-170-137"
"00370299" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "Serbia" "2018-171-313"
"00370300" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2018-199-083"
"00370301" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2018-200-160"
"00370302" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2018-200-165"
"00370303" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2018-200-168"
"00370304" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2018-200-169"
"00370305" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2018-200-175"
"00370306" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2018-201-059"
"00370307" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2018-214-133"
"00370308" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2018-214-138"
"00370309" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2018-214-147"
"00370310" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2018-221-010"
"00370311" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "Europe" "2018-221-021"
"00370312" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2018-221-123"
"00370313" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2018-222-126"
"00370314" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2018-227-328"
"00370315" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2018-227-335"
"00370316" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2018-227-337"
"00370317" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2018-228-253"
"00370318" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2018-228-263"
"00370319" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2018-228-268"
"00370320" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2018-241-278"
"00370321" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2018-241-298"
"00370322" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2018-250-159"
"00370323" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2018-250-161"
"00370324" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2018-250-167"
"00370325" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2018-250-168"
"00370326" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2018-250-170"
"00370327" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2018-250-180"
"00370328" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2018-250-181"
"00370329" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2018-255-332"
"00370330" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "white" "2018-256-013"
"00370331" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2018-257-281"
"00370332" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2018-257-284"
"00370333" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "India" "2018-264-076"
"00370334" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2018-264-204"
"00370335" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2018-264-206"
"00370336" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2018-264-208"
"00370337" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2018-264-215"
"00370338" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2018-264-217"
"00370339" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2018-264-218"
"00370340" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2018-264-219"
"00370341" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "white" "2018-275-094"
"00370342" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2018-284-014"
"00370343" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "Italy" "2018-292-228"
"00370344" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2018-300-032"
"00370345" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2018-318-136"
"00370346" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "Africa" "2018-328-059"
"00370347" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2018-339-315"
"00370348" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2018-348-105"
"00370349" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2018-353-445"
"00370350" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2018-353-488"
"00370351" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2018-355-035"
"00370352" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2018-358-014"
"00370353" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2019-016-333"
"00370354" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2019-043-192"
"00370355" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "white" "2019-044-422"
"00370356" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2019-046-411"
"00370357" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2019-050-038"
"00370358" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "England;Scotland" "2019-051-266"
"00370359" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "Mediterranean" "2019-072-265"
"00370360" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "Ancestry is Chinese from the North Seas" "2019-077-031"
"00370361" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "Metis, English, French" "2019-081-035"
"00370362" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2019-087-157"
"00370363" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2019-102-092"
"00370364" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2019-106-216"
"00370365" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "white" "2019-109-012"
"00370366" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2019-119-034"
"00370367" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2019-128-051"
"00370368" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2019-130-025"
"00370369" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "white" "2019-136-141"
"00370370" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2019-136-322"
"00370371" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2019-136-324"
"00370372" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2019-136-326"
"00370373" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2019-136-328"
"00370374" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2019-136-329"
"00370375" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2019-136-331"
"00370376" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2019-140-164"
"00370377" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2019-144-177"
"00370378" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2019-149-204"
"00370379" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2019-149-207"
"00370380" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2019-149-214"
"00370381" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2019-149-216"
"00370382" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2019-156-123"
"00370383" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2019-156-127"
"00370384" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2019-156-135"
"00370385" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2019-158-043"
"00370386" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2019-161-224"
"00370387" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2019-165-318"
"00370388" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2019-165-325"
"00370389" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2019-165-331"
"00370390" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2019-165-332"
"00370391" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2019-165-350"
"00370392" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2019-165-356"
"00370393" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "Middle East" "2019-168-143"
"00370394" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2019-176-315"
"00370395" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2019-176-326"
"00370396" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2019-176-331"
"00370397" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2019-178-221"
"00370398" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2019-178-237"
"00370399" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "African American" "2019-182-234"
"00370400" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2019-183-130"
"00370401" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2019-191-132"
"00370402" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2019-192-316"
"00370403" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2019-196-240"
"00370404" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2019-197-320"
"00370405" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2019-197-324"
"00370406" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2019-197-335"
"00370407" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2019-198-100"
"00370408" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2019-206-482"
"00370409" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2019-206-491"
"00370410" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2019-206-492"
"00370411" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2019-206-493"
"00370412" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2019-206-494"
"00370413" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2019-206-508"
"00370414" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2019-206-512"
"00370415" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2019-206-520"
"00370416" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2019-207-152"
"00370417" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "Ireland" "2019-212-065"
"00370418" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2019-213-255"
"00370419" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2019-213-256"
"00370420" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2019-213-258"
"00370421" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2019-213-259"
"00370422" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2019-213-262"
"00370423" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2019-213-269"
"00370424" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2019-213-272"
"00370425" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2019-213-274"
"00370426" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2019-213-277"
"00370427" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2019-213-285"
"00370428" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2019-214-080"
"00370429" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2019-220-241"
"00370430" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2019-220-243"
"00370431" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2019-220-249"
"00370432" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2019-220-251"
"00370433" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2019-220-253"
"00370434" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2019-220-255"
"00370435" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2019-221-121"
"00370436" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2019-227-302"
"00370437" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2019-227-303"
"00370438" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2019-227-304"
"00370439" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2019-227-308"
"00370440" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "England;Ireland" "2019-233-387"
"00370441" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2019-234-405"
"00370442" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2019-234-414"
"00370443" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2019-234-416"
"00370444" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2019-234-421"
"00370445" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2019-234-429"
"00370446" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2019-234-436"
"00370447" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2019-234-444"
"00370448" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2019-234-448"
"00370449" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2019-241-273"
"00370450" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2019-241-278"
"00370451" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2019-241-292"
"00370452" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2019-241-294"
"00370453" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2019-261-278"
"00370454" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2019-262-441"
"00370455" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "United Kingdom (Great Britain)" "2019-269-234"
"00370456" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2019-283-181"
"00370457" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2019-295-485"
"00370458" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2019-312-038"
"00370459" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2019-316-483"
"00370460" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "white" "2019-323-141"
"00370461" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "Germany;Ireland" "2019-329-358"
"00370462" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "Ireland;Switzerland;Germany" "2019-346-116"
"00370463" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2020-010-174"
"00370464" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2020-017-131"
"00370465" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2020-024-244"
"00370466" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2020-024-251"
"00370467" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "white;Europe" "2020-027-208"
"00370468" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2020-031-061"
"00370469" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2020-031-192"
"00370470" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2020-031-210"
"00370471" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2020-031-211"
"00370472" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "Europe" "2020-055-057"
"00370473" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2020-066-200"
"00370474" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2020-066-209"
"00370475" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2020-066-214"
"00370476" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2020-066-216"
"00370477" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2020-066-217"
"00370478" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2020-066-223"
"00370479" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2020-071-196"
"00370480" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "Mennonite" "2020-083-205"
"00370481" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2020-111-032"
"00370482" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2020-127-110"
"00370483" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2020-156-097"
"00370484" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "Cambodia" "2020-190-109"
"00370485" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "Hispanic" "2020-197-042"
"00370486" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "white" "2020-197-115"
"00370487" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2020-199-112"
"00370488" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2020-205-236"
"00370489" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2020-205-238"
"00370490" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2020-205-240"
"00370491" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2020-205-241"
"00370492" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2020-205-244"
"00370493" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2020-205-254"
"00370494" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2020-205-258"
"00370495" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2020-205-261"
"00370496" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2020-205-262"
"00370497" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2020-205-264"
"00370498" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2020-205-266"
"00370499" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2020-205-268"
"00370500" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2020-205-274"
"00370501" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2020-205-275"
"00370502" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2020-226-214"
"00370503" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "India" "2020-247-066"
"00370504" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "" "2020-283-050"
"00370505" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "Ukrain;Europe" "2020-303-154"
"00370506" "" "" "" "1" "" "01695" "Prevention Genetics" "" "" "?" "" "" "0" "" "" "white;United Kingdom (Great Britain)" "2020-325-131"
"00370507" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1007-1558"
"00370508" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1010-1533"
"00370509" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1013-1536"
"00370510" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1016-1540"
"00370511" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1018-1542"
"00370512" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1023-1547"
"00370513" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1041-2468"
"00370514" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1043-2470"
"00370515" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1047-2480"
"00370516" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1051-2513"
"00370517" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1057-2519"
"00370518" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1060-2492"
"00370519" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1061-2493"
"00370520" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1070-2502"
"00370521" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1072-2504"
"00370522" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1089-2521"
"00370523" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1090-2522"
"00370524" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "109-785"
"00370525" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1098-2529"
"00370526" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1115-2554"
"00370527" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1126-2565"
"00370528" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1127-2568"
"00370529" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "112-788"
"00370530" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1129-2602"
"00370531" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1130-2603"
"00370532" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1131-2604"
"00370533" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1132-2605"
"00370534" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1134-2607"
"00370535" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1147-2588"
"00370536" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1162-2632"
"00370537" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1164-2634"
"00370538" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1166-2636"
"00370539" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "11-664"
"00370540" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "116-798"
"00370541" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1168-2638"
"00370542" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1169-2639"
"00370543" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1172-2612"
"00370544" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "1173 is a family member of 1172" "" "?" "" "" "0" "" "" "" "1173-2612"
"00370545" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "1174 is a family member of 1173" "" "?" "" "" "0" "" "" "" "1174-2612"
"00370546" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1177-2615"
"00370547" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "1178 is a family member of 1177" "" "?" "" "" "0" "" "" "" "1178-2615"
"00370548" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1181-2617"
"00370549" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "1182 is a family member of 1181" "" "?" "" "" "0" "" "" "" "1182-2617"
"00370550" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1183-2617"
"00370551" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1185-2620"
"00370552" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1188-2623"
"00370553" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1207-2644"
"00370554" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1208-2645"
"00370555" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1209-2646"
"00370556" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "121-834"
"00370557" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1226-2660"
"00370558" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1232-2699"
"00370559" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1239-2677"
"00370560" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1241-2679"
"00370561" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "1242 is a family member of 1241" "" "?" "" "" "0" "" "" "" "1242-2679"
"00370562" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1250-2691"
"00370563" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1253-1822"
"00370564" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1254-1823"
"00370565" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1260-1828"
"00370566" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1266-1803"
"00370567" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "12 is a family member of 11" "" "?" "" "" "0" "" "" "" "12-664"
"00370568" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1267-1804"
"00370569" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "126-814"
"00370570" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1269-1806"
"00370571" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1279-1817"
"00370572" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1283-1821"
"00370573" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "128-816"
"00370574" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1288-1857"
"00370575" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1293-1833"
"00370576" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "129 is a family member of 128" "" "?" "" "" "0" "" "" "" "129-816"
"00370577" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1299-1838"
"00370578" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1303-1842"
"00370579" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1316-1884"
"00370580" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1319-1888"
"00370581" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1320-1889"
"00370582" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1322-1861"
"00370583" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1327-1866"
"00370584" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "133-824"
"00370585" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1349-1916"
"00370586" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1350-1917"
"00370587" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "1351 is a family member of 1350" "" "?" "" "" "0" "" "" "" "1351-1917"
"00370588" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1352-1918"
"00370589" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1355-1890"
"00370590" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1357-1894"
"00370591" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1372-1907"
"00370592" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1380-1944"
"00370593" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1381-1945"
"00370594" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1386-1920"
"00370595" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1388-1923"
"00370596" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1391-1926"
"00370597" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1392-1928"
"00370598" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1397-1933"
"00370599" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1404-1941"
"00370600" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1405-1973"
"00370601" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1406-1975"
"00370602" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1410-1978"
"00370603" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1411-1979"
"00370604" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1414-1953"
"00370605" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "141-840"
"00370606" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1420-1960"
"00370607" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1421-1961"
"00370608" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1423-1963"
"00370609" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1426-1966"
"00370610" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1428-1968"
"00370611" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1429-1969"
"00370612" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1434-2002"
"00370613" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1435-2003"
"00370614" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1436-2004"
"00370615" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1448-1988"
"00370616" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1457-2000"
"00370617" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1460-2034"
"00370618" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "146-846"
"00370619" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1473-2015"
"00370620" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1478-2021"
"00370621" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "1479 is a family member of 1478" "" "?" "" "" "0" "" "" "" "1479-2021"
"00370622" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1489-2029"
"00370623" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1493-2064"
"00370624" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1494-2065"
"00370625" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1498-2069"
"00370626" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1500-2042"
"00370627" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1502-2044"
"00370628" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1505-2047"
"00370629" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1516-2060"
"00370630" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1517-2061"
"00370631" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1524-2099"
"00370632" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1527-2072"
"00370633" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1532-2077"
"00370634" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1533-2078"
"00370635" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1542-2090"
"00370636" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1543-2091"
"00370637" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1547-2128"
"00370638" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1549-2101"
"00370639" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1551-2103"
"00370640" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1564-2120"
"00370641" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1569-2156"
"00370642" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1578-2133"
"00370643" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1579-2134"
"00370644" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1584-2139"
"00370645" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "160-892"
"00370646" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1611-2171"
"00370647" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1614-2176"
"00370648" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1616-2179"
"00370649" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1627-2219"
"00370650" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1630-2192"
"00370651" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "1632 is a family member of 1631" "" "?" "" "" "0" "" "" "" "1632-2192"
"00370652" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "1633 is a family member of 1632" "" "?" "" "" "0" "" "" "" "1633-2192"
"00370653" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1646-2206"
"00370654" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1652-2244"
"00370655" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1653-2245"
"00370656" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1658-2221"
"00370657" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1665-2228"
"00370658" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1667-2230"
"00370659" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1668-2231"
"00370660" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1681-2241"
"00370661" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1689-2279"
"00370662" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1691-2251"
"00370663" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "169-874"
"00370664" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1699-2261"
"00370665" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1701-2263"
"00370666" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "170-879"
"00370667" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1709-2307"
"00370668" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1713-2283"
"00370669" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "171-880"
"00370670" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1720-2292"
"00370671" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1721-2293"
"00370672" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1724-2298"
"00370673" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "172-883"
"00370674" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "173-886"
"00370675" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1739-2314"
"00370676" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1753-2321"
"00370677" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1754-2322"
"00370678" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1775-2353"
"00370679" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1779-2356"
"00370680" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "178-1584"
"00370681" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1783-2398"
"00370682" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1786-2371"
"00370683" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1790-2375"
"00370684" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1797-2382"
"00370685" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "1798 is a family member of 1797" "" "?" "" "" "0" "" "" "" "1798-2382"
"00370686" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1812-2404"
"00370687" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1819-2413"
"00370688" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1820-2415"
"00370689" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1824-2419"
"00370690" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1830-2421"
"00370691" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1832-2453"
"00370692" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1834-2455"
"00370693" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1838-2457"
"00370694" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1859-2439"
"00370695" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1860-2440"
"00370696" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1868-2450"
"00370697" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1872-3385"
"00370698" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1877-3389"
"00370699" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1878-3360"
"00370700" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1888-3373"
"00370701" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1901-3417"
"00370702" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1905-3395"
"00370703" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "1906 is a family member of 1905" "" "?" "" "" "0" "" "" "" "1906-3395"
"00370704" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1909-3396"
"00370705" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1916-3405"
"00370706" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "193-1572"
"00370707" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1935-3426"
"00370708" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1937-3428"
"00370709" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1944-3435"
"00370710" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "195-1574"
"00370711" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1955-3476"
"00370712" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1958-3479"
"00370713" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1960-3451"
"00370714" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1961-3453"
"00370715" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1964-3457"
"00370716" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1968-3463"
"00370717" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1970-3467"
"00370718" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1973-3470"
"00370719" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1978-3505"
"00370720" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1981-3509"
"00370721" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1983-3482"
"00370722" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1986-3486"
"00370723" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1988-3488"
"00370724" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1992-3493"
"00370725" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "1997-3497"
"00370726" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2009-3513"
"00370727" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "201-1579"
"00370728" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2013-3517"
"00370729" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2014-3518"
"00370730" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2015-3519"
"00370731" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2016-3520"
"00370732" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2018-3522"
"00370733" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2019-3523"
"00370734" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2020-3524"
"00370735" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2022-3526"
"00370736" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2023-3527"
"00370737" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2024-3529"
"00370738" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2025-3530"
"00370739" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2026-3531"
"00370740" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2030-3563"
"00370741" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2033-3567"
"00370742" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2036-3540"
"00370743" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2037-3542"
"00370744" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2040-3547"
"00370745" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2042-3549"
"00370746" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2052-3561"
"00370747" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2062-3570"
"00370748" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2072-3584"
"00370749" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2074-3586"
"00370750" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2075-3587"
"00370751" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "2076 is a family member of 2075" "" "?" "" "" "0" "" "" "" "2076-3587"
"00370752" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2078-3590"
"00370753" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2088-2704"
"00370754" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2090-2706"
"00370755" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2097-2713"
"00370756" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2098-2714"
"00370757" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2105-2719"
"00370758" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "211-1590"
"00370759" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "212 is a family member of 211" "" "?" "" "" "0" "" "" "" "212-1590"
"00370760" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2126-2744"
"00370761" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2127-2745"
"00370762" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2131-2750"
"00370763" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2135-2784"
"00370764" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2143-2762"
"00370765" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2144-2762"
"00370766" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2149-2769"
"00370767" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2153-2774"
"00370768" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2167-2791"
"00370769" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2172-2795"
"00370770" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2177-2800"
"00370771" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2181-2804"
"00370772" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2182-2805"
"00370773" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2183-2806"
"00370774" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2187-2811"
"00370775" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2190-2844"
"00370776" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2192-2847"
"00370777" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2195-2822"
"00370778" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2196-2823"
"00370779" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2199-2824"
"00370780" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2212-2838"
"00370781" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2213-2839"
"00370782" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "2214 is a family member of 2213" "" "?" "" "" "0" "" "" "" "2214-2839"
"00370783" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2217-2841"
"00370784" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2220-2874"
"00370785" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2236-2861"
"00370786" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2242-2869"
"00370787" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2243-2869"
"00370788" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2245-2871"
"00370789" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2248-2905"
"00370790" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2250-2907"
"00370791" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2251-2908"
"00370792" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "226-1602"
"00370793" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "22-671"
"00370794" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2274-2932"
"00370795" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2275-2933"
"00370796" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2282-2913"
"00370797" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2286-2916"
"00370798" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2288-2919"
"00370799" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "229-1606"
"00370800" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2297-2931"
"00370801" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2312-2946"
"00370802" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2318-2951"
"00370803" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2319-2954"
"00370804" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2321-2956"
"00370805" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2324-2960"
"00370806" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "233-1610"
"00370807" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2340-2975"
"00370808" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2342-2977"
"00370809" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2343-2978"
"00370810" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2345-2980"
"00370811" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2350-2986"
"00370812" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2357-2990"
"00370813" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "236-1642"
"00370814" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2362-3027"
"00370815" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "2363 is a family member of 2362" "" "?" "" "" "0" "" "" "" "2363-3027"
"00370816" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2368-3002"
"00370817" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2377-3011"
"00370818" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2378-3012"
"00370819" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2384-3018"
"00370820" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2385-3020"
"00370821" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2390-3053"
"00370822" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "239-1646"
"00370823" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2394-3058"
"00370824" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2412-3045"
"00370825" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2418-3051"
"00370826" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2422-3085"
"00370827" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2430-3067"
"00370828" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2431-3068"
"00370829" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2438-3075"
"00370830" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2452-3119"
"00370831" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2453-3090"
"00370832" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2459-3097"
"00370833" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "246-1622"
"00370834" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "24-673"
"00370835" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2471-3110"
"00370836" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2475-3145"
"00370837" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2480-3121"
"00370838" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2492-3132"
"00370839" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2500-3140"
"00370840" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2501-3141"
"00370841" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2502-3173"
"00370842" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2508-3150"
"00370843" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2510-3152"
"00370844" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2527-3170"
"00370845" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2546-3190"
"00370846" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2549-3192"
"00370847" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2553-3199"
"00370848" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2573-3227"
"00370849" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2575-3229"
"00370850" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2576-3230"
"00370851" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2577-3231"
"00370852" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2583-3267"
"00370853" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2587-3241"
"00370854" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2588-3242"
"00370855" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2594-3248"
"00370856" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2601-3256"
"00370857" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2602-3257"
"00370858" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2622-3280"
"00370859" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2627-3283"
"00370860" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2630-3286"
"00370861" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2631-3287"
"00370862" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "263-1640"
"00370863" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2634-3322"
"00370864" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2638-3327"
"00370865" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "264-1672"
"00370866" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2646-3305"
"00370867" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2649-3309"
"00370868" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "265-1673"
"00370869" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2653-3315"
"00370870" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2657-3320"
"00370871" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2666-3332"
"00370872" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2669-3336"
"00370873" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2670-3338"
"00370874" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2673-3342"
"00370875" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2680-3350"
"00370876" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2699-4272"
"00370877" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2702-4273"
"00370878" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2706-4279"
"00370879" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2712-4315"
"00370880" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2713-4316"
"00370881" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2721-4296"
"00370882" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2724-4301"
"00370883" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "2730 is a family member of 2729" "" "?" "" "" "0" "" "" "" "2730-4305"
"00370884" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2733-4309"
"00370885" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2737-4344"
"00370886" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2738-4345"
"00370887" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2751-4326"
"00370888" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "275-1653"
"00370889" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2754-4329"
"00370890" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2758-4334"
"00370891" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2759-4335"
"00370892" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2760-4336"
"00370893" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "276-1654"
"00370894" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2766-4372"
"00370895" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2767-4374"
"00370896" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "27-676"
"00370897" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "277-1655"
"00370898" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2772-4351"
"00370899" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2774-4353"
"00370900" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2775-4354"
"00370901" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2777-4357"
"00370902" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2783-4364"
"00370903" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "2787 is a family member of 2785" "" "?" "" "" "0" "" "" "" "2787-4364"
"00370904" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2803-4408"
"00370905" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2805-4380"
"00370906" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "2806 is a family member of 2805" "" "?" "" "" "0" "" "" "" "2806-4380"
"00370907" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2807-4382"
"00370908" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2810-4385"
"00370909" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2812-4390"
"00370910" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2814-4391"
"00370911" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2821-4400"
"00370912" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2824-4432"
"00370913" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2825-4433"
"00370914" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2830-4439"
"00370915" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "283-1663"
"00370916" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2836-4418"
"00370917" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2848-4462"
"00370918" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2849-4463"
"00370919" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2856-4444"
"00370920" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2861-4449"
"00370921" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2864-4453"
"00370922" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2868-4456"
"00370923" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2873-4460"
"00370924" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2877-4495"
"00370925" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "2880 is a family member of 2879" "" "?" "" "" "0" "" "" "" "2880-4495"
"00370926" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "288-1668"
"00370927" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2891-4476"
"00370928" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2894-4479"
"00370929" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "2895 is a family member of 2894" "" "?" "" "" "0" "" "" "" "2895-4479"
"00370930" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2908-3601"
"00370931" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "291-1670"
"00370932" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2920-3615"
"00370933" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2923-3618"
"00370934" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2927-3652"
"00370935" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2928-3653"
"00370936" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "2929 is a family member of 2928" "" "?" "" "" "0" "" "" "" "2929-3653"
"00370937" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2933-3659"
"00370938" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2943-3638"
"00370939" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2945-3644"
"00370940" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2949-3651"
"00370941" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2955-3687"
"00370942" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2969-3676"
"00370943" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2970-3677"
"00370944" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2971-3678"
"00370945" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2974-3681"
"00370946" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2975-3712"
"00370947" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2979-3690"
"00370948" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2980-3691"
"00370949" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "298-1709"
"00370950" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2982-3692"
"00370951" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2983-3693"
"00370952" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2985-3696"
"00370953" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2987-3699"
"00370954" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2991-3706"
"00370955" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "299-1682"
"00370956" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2994-3742"
"00370957" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "2996-3745"
"00370958" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "3002-3748"
"00370959" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "3005-3721"
"00370960" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "3008 is a family member of 3007" "" "?" "" "" "0" "" "" "" "3008-3723"
"00370961" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "3012-3727"
"00370962" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "3016-3730"
"00370963" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "3017-3731"
"00370964" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "3022-3738"
"00370965" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "3030-3779"
"00370966" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "303-1685"
"00370967" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "3032-3750"
"00370968" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "3034-3752"
"00370969" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "3035 is a family member of 3034" "" "?" "" "" "0" "" "" "" "3035-3752"
"00370970" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "304-1686"
"00370971" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "3045-3766"
"00370972" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "3050-3771"
"00370973" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "305-1687"
"00370974" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "3059-3784"
"00370975" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "3063-3789"
"00370976" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "3067-3793"
"00370977" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "3068-3794"
"00370978" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "3069-3795"
"00370979" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "3079-3801"
"00370980" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "3085-3838"
"00370981" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "309-1692"
"00370982" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "3103-3862"
"00370983" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "3113-3843"
"00370984" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "3119-3851"
"00370985" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "3124-3856"
"00370986" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "3128-3860"
"00370987" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "3137-3870"
"00370988" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "3139-3872"
"00370989" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "314-1696"
"00370990" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "3145-3879"
"00370991" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "3148-3881"
"00370992" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "3156-3891"
"00370993" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "3158-3924"
"00370994" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "3159-3925"
"00370995" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "3170-3905"
"00370996" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "3182-3919"
"00370997" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "3187-3955"
"00370998" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "3188-3956"
"00370999" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "3189-3957"
"00371000" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "3193-3931"
"00371001" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "321-1733"
"00371002" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "3218-3987"
"00371003" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "322-1734"
"00371004" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "3223-3961"
"00371005" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "3232-3969"
"00371006" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "3234-3971"
"00371007" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "3236-3973"
"00371008" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "3243-3981"
"00371009" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "3252-4019"
"00371010" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "3259-3999"
"00371011" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "3260-4000"
"00371012" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "3263-4003"
"00371013" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "32-713"
"00371014" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "3273-4044"
"00371015" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "3275-4049"
"00371016" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "328-1710"
"00371017" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "3283-4027"
"00371018" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "3285-4029"
"00371019" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "3287-4031"
"00371020" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "3288-4032"
"00371021" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "3294-4038"
"00371022" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "3306-4051"
"00371023" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "3307-4052"
"00371024" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "3308-4053"
"00371025" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "3311-4054"
"00371026" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "3313-4056"
"00371027" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "3326-4102"
"00371028" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "333-1714"
"00371029" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "334-1715"
"00371030" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "3342-4090"
"00371031" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "3346-4094"
"00371032" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "3350-4098"
"00371033" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "3352-4101"
"00371034" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "3355-4136"
"00371035" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "3362-4113"
"00371036" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "3367-4119"
"00371037" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "3370-4122"
"00371038" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "3374-4127"
"00371039" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "3377 is a family member of 3376" "" "?" "" "" "0" "" "" "" "3377-4127"
"00371040" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "3379-4162"
"00371041" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "3388-4140"
"00371042" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "3394-4147"
"00371043" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "3414-4197"
"00371044" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "3418-4171"
"00371045" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "3426-4179"
"00371046" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "3427 is a family member of 3426" "" "?" "" "" "0" "" "" "" "3427-4179"
"00371047" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "343-1723"
"00371048" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "3433-4186"
"00371049" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "3439-4223"
"00371050" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "3441-4225"
"00371051" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "344-1724"
"00371052" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "3442-4226"
"00371053" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "3446-4229"
"00371054" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "3447-4200"
"00371055" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "3448-4201"
"00371056" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "3455-4210"
"00371057" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "3459-4214"
"00371058" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "346-1729"
"00371059" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "3463-4220"
"00371060" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "3467-4255"
"00371061" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "347-1730"
"00371062" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "3476-4234"
"00371063" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "3477-4235"
"00371064" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "348-1731"
"00371065" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "3482-4240"
"00371066" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "3483-4241"
"00371067" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "349-1762"
"00371068" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "3495-5187"
"00371069" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "3499-5163"
"00371070" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "3500-5165"
"00371071" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "3507-5174"
"00371072" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "3508-5175"
"00371073" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "351-1764"
"00371074" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "3516-5214"
"00371075" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "3521-5219"
"00371076" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "352-1765"
"00371077" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "353-1766"
"00371078" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "3532-5199"
"00371079" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "3534-5201"
"00371080" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "3544-5210"
"00371081" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "355-1740"
"00371082" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "358-1743"
"00371083" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "3585-5258"
"00371084" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "3591-5264"
"00371085" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "3594-5268"
"00371086" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "3596-5270"
"00371087" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "3601-5306"
"00371088" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "3613-5290"
"00371089" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "3618-5295"
"00371090" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "3622-5301"
"00371091" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "3630-5313"
"00371092" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "3631-5314"
"00371093" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "3633-5316"
"00371094" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "364-1750"
"00371095" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "3643-5329"
"00371096" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "3645 is a family member of 3644" "" "?" "" "" "0" "" "" "" "3645-5329"
"00371097" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "3648-5364"
"00371098" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "3650-5366"
"00371099" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "3651-5367"
"00371100" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "3652-5368"
"00371101" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "3655-5369"
"00371102" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "3656-5340"
"00371103" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "3660-5348"
"00371104" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "3677-5397"
"00371105" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "3679-5370"
"00371106" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "3681-5373"
"00371107" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "3-685"
"00371108" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "3695-5390"
"00371109" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "3712-4517"
"00371110" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "3725-4532"
"00371111" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "3726-4533"
"00371112" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "3730-4537"
"00371113" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "3731-4540"
"00371114" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "3734-4543"
"00371115" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "3740-4585"
"00371116" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "3751-4570"
"00371117" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "3755-4574"
"00371118" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "3760-4580"
"00371119" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "3762-4613"
"00371120" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "3763-4614"
"00371121" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "3765-4616"
"00371122" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "3771-4596"
"00371123" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "378-1792"
"00371124" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "3785-4610"
"00371125" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "3803-4634"
"00371126" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "3821-4655"
"00371127" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "3826-4660"
"00371128" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "3847-4695"
"00371129" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "385-1799"
"00371130" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "3853-4733"
"00371131" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "3859-4739"
"00371132" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "386-1770"
"00371133" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "3862-4711"
"00371134" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "3864-4713"
"00371135" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "3867-4714"
"00371136" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "387-1771"
"00371137" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "3875-4722"
"00371138" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "3878-4726"
"00371139" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "3879 is a family member of 3878" "" "?" "" "" "0" "" "" "" "3879-4726"
"00371140" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "3880-4727"
"00371141" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "3881-4728"
"00371142" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "388-1772"
"00371143" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "3884-4731"
"00371144" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "3909-4792"
"00371145" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "3910-4794"
"00371146" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "3918-4772"
"00371147" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "3926-4782"
"00371148" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "3927-4785"
"00371149" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "3928-4786"
"00371150" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "3929-4787"
"00371151" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "3930-4788"
"00371152" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "3935-4826"
"00371153" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "3940-4802"
"00371154" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "394-1778"
"00371155" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "3943-4805"
"00371156" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "3945-4808"
"00371157" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "3947-4810"
"00371158" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "3948-4812"
"00371159" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "3949 is a family member of 3948" "" "?" "" "" "0" "" "" "" "3949-4812"
"00371160" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "3950-4814"
"00371161" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "3952-4816"
"00371162" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "3954-4818"
"00371163" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "3976-4842"
"00371164" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "3978-4844"
"00371165" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "4002-4875"
"00371166" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "401-1787"
"00371167" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "4013-4917"
"00371168" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "4014-4919"
"00371169" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "4023-4898"
"00371170" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "4024-4899"
"00371171" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "4026-4902"
"00371172" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "4029-4905"
"00371173" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "4030-4907"
"00371174" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "4031-4908"
"00371175" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "4032-4909"
"00371176" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "4036-4942"
"00371177" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "4045-4921"
"00371178" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "4048-4925"
"00371179" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "4049-4926"
"00371180" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "4053-4931"
"00371181" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "4056-4934"
"00371182" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "4057-4935"
"00371183" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "4058 is a family member of 4057" "" "?" "" "" "0" "" "" "" "4058-4935"
"00371184" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "4060-4938"
"00371185" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "4068-4979"
"00371186" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "4069 is a family member of 4068" "" "?" "" "" "0" "" "" "" "4069-4979"
"00371187" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "4070-4950"
"00371188" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "4071-4952"
"00371189" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "4074-4955"
"00371190" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "4080-5002"
"00371191" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "4082-5004"
"00371192" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "4089-5009"
"00371193" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "4094-4984"
"00371194" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "4095-4985"
"00371195" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "4097-4987"
"00371196" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "4100-4990"
"00371197" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "4101 is a family member of 4100" "" "?" "" "" "0" "" "" "" "4101-4990"
"00371198" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "4103-4993"
"00371199" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "4105-4995"
"00371200" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "4107-4998"
"00371201" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "4112-5038"
"00371202" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "4128-5029"
"00371203" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "4133-5063"
"00371204" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "4134-5064"
"00371205" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "4152-5048"
"00371206" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "4160-5060"
"00371207" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "4162-5093"
"00371208" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "4168-5070"
"00371209" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "4169-5071"
"00371210" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "4172-5077"
"00371211" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "4176-5080"
"00371212" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "418-913"
"00371213" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "4198-5126"
"00371214" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "4205-5104"
"00371215" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "4206-5105"
"00371216" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "4220-5121"
"00371217" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "4225-5156"
"00371218" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "4236-5137"
"00371219" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "423-920"
"00371220" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "4241-5141"
"00371221" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "4251-6083"
"00371222" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "4260-6062"
"00371223" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "4270-6070"
"00371224" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "4271-6073"
"00371225" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "4275-6076"
"00371226" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "4314-6121"
"00371227" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "431-930"
"00371228" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "4323-6130"
"00371229" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "4324-6131"
"00371230" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "4328-6135"
"00371231" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "432-931"
"00371232" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "4329-6136"
"00371233" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "4330 is a family member of 4329" "" "?" "" "" "0" "" "" "" "4330-6136"
"00371234" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "4331-6138"
"00371235" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "4336-6173"
"00371236" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "4338-6175"
"00371237" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "433-932"
"00371238" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "4341-6176"
"00371239" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "4342-6177"
"00371240" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "4345-6152"
"00371241" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "4355-6163"
"00371242" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "4363-6202"
"00371243" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "4372-6181"
"00371244" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "4394-6232"
"00371245" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "4401-6210"
"00371246" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "4418-6227"
"00371247" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "4423-6264"
"00371248" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "442-945"
"00371249" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "4436-6246"
"00371250" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "4437-6247"
"00371251" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "443-946"
"00371252" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "4440-6253"
"00371253" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "4448-6293"
"00371254" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "4452-6298"
"00371255" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "4459-6277"
"00371256" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "4460-6278"
"00371257" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "4464-6283"
"00371258" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "4473-5422"
"00371259" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "4478-5401"
"00371260" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "4488-5430"
"00371261" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "4491-5436"
"00371262" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "4493-5441"
"00371263" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "4494-5443"
"00371264" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "4497-5444"
"00371265" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "4498-5445"
"00371266" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "4500-5483"
"00371267" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "4505-5461"
"00371268" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "4508-5465"
"00371269" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "4513-5474"
"00371270" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "4518-5512"
"00371271" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "4525-5492"
"00371272" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "4526-5493"
"00371273" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "4527-5494"
"00371274" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "4535-5509"
"00371275" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "4536-5510"
"00371276" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "4540-5548"
"00371277" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "4541 is a family member of 4540" "" "?" "" "" "0" "" "" "" "4541-5548"
"00371278" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "4550-5526"
"00371279" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "4554-5531"
"00371280" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "4555-5532"
"00371281" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "4556-5534"
"00371282" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "4559-5537"
"00371283" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "4563-5576"
"00371284" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "4565-5579"
"00371285" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "456-960"
"00371286" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "45-700"
"00371287" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "4570-5554"
"00371288" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "4571-5555"
"00371289" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "4573-5558"
"00371290" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "458-966"
"00371291" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "4591-5609"
"00371292" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "4606-5633"
"00371293" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "4616-5613"
"00371294" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "4619-5622"
"00371295" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "4620-5623"
"00371296" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "4634-5666"
"00371297" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "4646-5649"
"00371298" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "4653-5655"
"00371299" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "4654-5656"
"00371300" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "4661-5696"
"00371301" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "4665-5670"
"00371302" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "4669-5673"
"00371303" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "4679-5683"
"00371304" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "4682-5688"
"00371305" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "4684-5690"
"00371306" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "4686-5724"
"00371307" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "4693-5701"
"00371308" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "4703-5712"
"00371309" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "4706-5715"
"00371310" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "4707-5716"
"00371311" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "4711-5720"
"00371312" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "4716-5752"
"00371313" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "4722-5730"
"00371314" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "4728-5738"
"00371315" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "4733-5745"
"00371316" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "4736-5748"
"00371317" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "4737-5749"
"00371318" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "4740-5783"
"00371319" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "4743-5787"
"00371320" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "4745-5760"
"00371321" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "4749-5765"
"00371322" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "4750-5768"
"00371323" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "4762-5778"
"00371324" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "4769-5817"
"00371325" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "47-702"
"00371326" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "4770-5819"
"00371327" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "4778-5799"
"00371328" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "4779-5800"
"00371329" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "4780 is a family member of 4779" "" "?" "" "" "0" "" "" "" "4780-5800"
"00371330" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "4784-5804"
"00371331" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "4787-5807"
"00371332" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "4788-5808"
"00371333" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "4799-5848"
"00371334" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "480-1019"
"00371335" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "4806-5825"
"00371336" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "4807-5826"
"00371337" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "4808-5827"
"00371338" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "4811-5830"
"00371339" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "4812-5831"
"00371340" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "4831-5858"
"00371341" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "4837-5864"
"00371342" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "4839-5867"
"00371343" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "483-993"
"00371344" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "4846-5905"
"00371345" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "484-994"
"00371346" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "48-703"
"00371347" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "487-996"
"00371348" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "4893-5927"
"00371349" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "4898-5962"
"00371350" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "4901-5969"
"00371351" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "4913-5949"
"00371352" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "4924-5961"
"00371353" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "4927-5995"
"00371354" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "4930-5998"
"00371355" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "4942-5980"
"00371356" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "4944-5982"
"00371357" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "4958-6029"
"00371358" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "4960-6001"
"00371359" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "4966-6008"
"00371360" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "497-1006"
"00371361" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "4977-6053"
"00371362" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "498-1008"
"00371363" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "4994-6040"
"00371364" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "4995-6044"
"00371365" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "4999-6048"
"00371366" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "500-1010"
"00371367" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "5007-6986"
"00371368" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "5010-6989"
"00371369" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "502-1043"
"00371370" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "5025-6975"
"00371371" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "503-1044"
"00371372" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "5031-6981"
"00371373" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "5042-6995"
"00371374" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "5043-6997"
"00371375" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "5050-7004"
"00371376" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "5056-7010"
"00371377" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "5067-7023"
"00371378" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "5079-7039"
"00371379" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "5080-7040"
"00371380" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "508-1047"
"00371381" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "5081-7041"
"00371382" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "5083-7073"
"00371383" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "5084-7074"
"00371384" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "5087-7077"
"00371385" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "509-1048"
"00371386" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "5093-7059"
"00371387" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "510-1049"
"00371388" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "5110-7109"
"00371389" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "513-1022"
"00371390" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "5131-7134"
"00371391" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "5153-7127"
"00371392" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "5160-7164"
"00371393" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "5161 is a family member of 5160" "" "?" "" "" "0" "" "" "" "5161-7164"
"00371394" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "5165-7140"
"00371395" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "5170-7147"
"00371396" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "5171-7148"
"00371397" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "5198-7180"
"00371398" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "5220-6309"
"00371399" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "5226-6316"
"00371400" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "5229-6319"
"00371401" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "523-1033"
"00371402" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "5237-6357"
"00371403" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "5239-6333"
"00371404" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "5242-6336"
"00371405" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "5245-6338"
"00371406" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "5252-6345"
"00371407" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "5257-6351"
"00371408" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "5261-6385"
"00371409" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "5266-6360"
"00371410" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "5277-6371"
"00371411" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "5282-6375"
"00371412" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "5289-6418"
"00371413" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "5304-6410"
"00371414" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "5311-6449"
"00371415" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "5318-6428"
"00371416" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "5351-6462"
"00371417" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "5352-6464"
"00371418" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "5355-6467"
"00371419" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "5362-6504"
"00371420" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "5363 is a family member of 5362" "" "?" "" "" "0" "" "" "" "5363-6504"
"00371421" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "5364-6505"
"00371422" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "539-1050"
"00371423" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "5391-6538"
"00371424" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "5395-6512"
"00371425" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "5401-6522"
"00371426" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "5402 is a family member of 5401" "" "?" "" "" "0" "" "" "" "5402-6522"
"00371427" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "5411-6564"
"00371428" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "5422-6550"
"00371429" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "543-1056"
"00371430" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "5454-6591"
"00371431" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "5456-6622"
"00371432" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "5459-6626"
"00371433" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "5460-6627"
"00371434" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "5471-6611"
"00371435" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "5480-6620"
"00371436" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "548-1062"
"00371437" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "5499-6643"
"00371438" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "5505-6649"
"00371439" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "5513-6688"
"00371440" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "5523-6667"
"00371441" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "5537-6680"
"00371442" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "5538-6681"
"00371443" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "5559-6710"
"00371444" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "556-1071"
"00371445" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "5585-6737"
"00371446" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "5594-6750"
"00371447" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "5597-6753"
"00371448" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "5638-6810"
"00371449" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "5644-6817"
"00371450" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "5654-6831"
"00371451" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "5665-6844"
"00371452" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "56-721"
"00371453" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "5676-6853"
"00371454" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "5684-6893"
"00371455" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "5685-6894"
"00371456" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "5688-6871"
"00371457" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "5698-6882"
"00371458" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "5699-6883"
"00371459" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "5702-6886"
"00371460" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "5706-6922"
"00371461" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "5724-6917"
"00371462" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "5726-6919"
"00371463" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "5732-6956"
"00371464" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "5733-6957"
"00371465" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "5739-6936"
"00371466" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "5740-6937"
"00371467" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "5743-6942"
"00371468" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "5744-6945"
"00371469" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "5747-6948"
"00371470" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "5755-7226"
"00371471" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "5757-7228"
"00371472" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "5758-7229"
"00371473" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "5762-7205"
"00371474" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "5770-7215"
"00371475" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "5772-7217"
"00371476" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "5775-7220"
"00371477" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "580-1095"
"00371478" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "5806-7289"
"00371479" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "581-1097"
"00371480" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "5820-7275"
"00371481" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "5821-7276"
"00371482" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "5834-7292"
"00371483" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "5836-7294"
"00371484" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "5853-7311"
"00371485" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "5854-7342"
"00371486" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "5858-7348"
"00371487" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "586-1132"
"00371488" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "58-724"
"00371489" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "588-1134"
"00371490" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "5883-7379"
"00371491" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "5891-7360"
"00371492" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "5892 is a family member of 5891" "" "?" "" "" "0" "" "" "" "5892-7360"
"00371493" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "5898-7366"
"00371494" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "591-1137"
"00371495" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "5919-7399"
"00371496" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "592 is a family member of 591" "" "?" "" "" "0" "" "" "" "592-1137"
"00371497" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "593-1138"
"00371498" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "5938-7422"
"00371499" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "5939-7424"
"00371500" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "5945-7430"
"00371501" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "5951-7467"
"00371502" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "5968-7458"
"00371503" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "5970-7461"
"00371504" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "5977-7499"
"00371505" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "5978-7471"
"00371506" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "5982-7475"
"00371507" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "600-1114"
"00371508" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "6005-7509"
"00371509" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "6010-7517"
"00371510" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "601 is a family member of 600" "" "?" "" "" "0" "" "" "" "601-1114"
"00371511" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "6016-509"
"00371512" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "6017 is a family member of 6016" "" "?" "" "" "0" "" "" "" "6017-509"
"00371513" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "6053-596"
"00371514" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "6056-577"
"00371515" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "6070-626"
"00371516" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "6071-627"
"00371517" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "60-728"
"00371518" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "6075-605"
"00371519" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "6082-611"
"00371520" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "6091-621"
"00371521" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "6096-631"
"00371522" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "610-1127"
"00371523" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "6118-7676"
"00371524" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "6120-7620"
"00371525" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "614-1129"
"00371526" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "615 is a family member of 614" "" "?" "" "" "0" "" "" "" "615-1129"
"00371527" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "6153-7530"
"00371528" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "6158-7537"
"00371529" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "6159-7538"
"00371530" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "6162-7542"
"00371531" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "6171-7586"
"00371532" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "618-1131"
"00371533" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "6193-7580"
"00371534" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "6198-7591"
"00371535" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "6201-7595"
"00371536" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "6206-7601"
"00371537" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "6207-7602"
"00371538" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "6223 is a family member of 6220" "" "?" "" "" "0" "" "" "" "6223-7658"
"00371539" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "6242-7690"
"00371540" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "6243-7692"
"00371541" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "625-1169"
"00371542" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "6251-7701"
"00371543" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "626 is a family member of 625" "" "?" "" "" "0" "" "" "" "626-1169"
"00371544" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "6269-7734"
"00371545" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "6271-7740"
"00371546" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "628-1141"
"00371547" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "631-1144"
"00371548" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "6315-7626"
"00371549" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "6322-7632"
"00371550" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "6325-7333"
"00371551" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "6327-7790"
"00371552" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "6347-7773"
"00371553" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "6348 is a family member of 6347" "" "?" "" "" "0" "" "" "" "6348-7773"
"00371554" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "6358-7331"
"00371555" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "637-1152"
"00371556" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "6376-443"
"00371557" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "6386-450"
"00371558" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "6387-451"
"00371559" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "6388-462"
"00371560" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "6389-463"
"00371561" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "639-1154"
"00371562" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "6392-484"
"00371563" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "6400-514"
"00371564" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "6403-524"
"00371565" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "6405-530"
"00371566" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "6406-531"
"00371567" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "641-1156"
"00371568" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "6411-545"
"00371569" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "6418-736"
"00371570" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "642-1157"
"00371571" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "6423-766"
"00371572" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "6428-792"
"00371573" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "6434-836"
"00371574" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "6436-811"
"00371575" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "6437-817"
"00371576" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "644-1159"
"00371577" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "6442-828"
"00371578" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "6444-865"
"00371579" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "6450-875"
"00371580" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "6452-877"
"00371581" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "6455-884"
"00371582" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "6462-928"
"00371583" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "6463-900"
"00371584" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "6472-1025"
"00371585" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "6478-1251"
"00371586" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "6484-5467"
"00371587" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "6500-7644"
"00371588" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "6502-7650"
"00371589" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "662-1178"
"00371590" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "666-1183"
"00371591" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "678-1224"
"00371592" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "679-1225"
"00371593" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "697-1216"
"00371594" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "69-731"
"00371595" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "701-1253"
"00371596" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "70-732"
"00371597" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "708-1259"
"00371598" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "718-1238"
"00371599" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "721-1241"
"00371600" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "730-1250"
"00371601" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "733-1284"
"00371602" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "738-1288"
"00371603" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "743-1263"
"00371604" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "752-1274"
"00371605" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "756-1278"
"00371606" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "761-1312"
"00371607" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "763-1314"
"00371608" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "765 is a family member of 764" "" "?" "" "" "0" "" "" "" "765-1314"
"00371609" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "777-1296"
"00371610" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "791-1308"
"00371611" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "798-1347"
"00371612" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "799 is a family member of 798" "" "?" "" "" "0" "" "" "" "799-1347"
"00371613" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "806-1324"
"00371614" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "807 is a family member of 806" "" "?" "" "" "0" "" "" "" "807-1324"
"00371615" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "80-751"
"00371616" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "809-1326"
"00371617" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "81 is a family member of 80" "" "?" "" "" "0" "" "" "" "81-751"
"00371618" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "820-1336"
"00371619" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "827-1374"
"00371620" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "82-754"
"00371621" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "828 is a family member of 827" "" "?" "" "" "0" "" "" "" "828-1374"
"00371622" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "833-1351"
"00371623" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "834-1352"
"00371624" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "845-1364"
"00371625" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "851-1368"
"00371626" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "853-1371"
"00371627" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "854 is a family member of 853" "" "?" "" "" "0" "" "" "" "854-1371"
"00371628" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "8-661"
"00371629" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "866-1384"
"00371630" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "868-1386"
"00371631" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "869-1387"
"00371632" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "874-1394"
"00371633" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "881-1433"
"00371634" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "882-1434"
"00371635" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "883-1435"
"00371636" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "885-1437"
"00371637" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "88-763"
"00371638" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "889-1411"
"00371639" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "892-1414"
"00371640" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "89 is a family member of 88" "" "?" "" "" "0" "" "" "" "89-763"
"00371641" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "899-1421"
"00371642" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "90 is a family member of 89" "" "?" "" "" "0" "" "" "" "90-763"
"00371643" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "917-1440"
"00371644" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "91-764"
"00371645" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "918 is a family member of 917" "" "?" "" "" "0" "" "" "" "918-1440"
"00371646" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "920-1422"
"00371647" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "920-1442"
"00371648" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "927-1452"
"00371649" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "93-768"
"00371650" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "951-1499"
"00371651" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "956-1476"
"00371652" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "957-1477"
"00371653" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "95-769"
"00371654" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "960-1480"
"00371655" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "974-1524"
"00371656" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "983-1503"
"00371657" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "985-1505"
"00371658" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "987-1507"
"00371659" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "992-1512"
"00371660" "" "" "" "1" "" "01695" "{PMID:Goetz 2020:32893963}" "" "" "?" "" "" "0" "" "" "" "994-1515"
"00372504" "" "" "" "1" "" "00000" "{PMID:Wang 2015:26047050}" "index case" "" "" "China" "" "0" "" "" "" "104"
"00372626" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "family" "M" "" "China" "" "0" "" "" "" "RP295"
"00372642" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "family" "F" "" "China" "" "0" "" "" "" "RP215"
"00372665" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "family" "F" "" "China" "" "0" "" "" "" "RP313"
"00372666" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "family" "F" "" "China" "" "0" "" "" "" "RP016"
"00372670" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "patient" "F" "" "China" "" "0" "" "" "" "RP201"
"00372685" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "patient" "M" "" "China" "" "0" "" "" "" "RP056"
"00372691" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "" "" "" "China" "" "0" "" "" "" "RP235"
"00372708" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "" "" "" "China" "" "0" "" "" "" "RP200"
"00372709" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "" "" "" "China" "" "0" "" "" "" "RP205"
"00372710" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "" "" "" "China" "" "0" "" "" "" "RP206"
"00372720" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "" "" "" "China" "" "0" "" "" "" "RP277"
"00372732" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "" "" "" "China" "" "0" "" "" "" "RP069"
"00372738" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "" "" "" "China" "" "0" "" "" "" "RP237"
"00373510" "" "" "" "1" "" "00000" "{PMID:Liu 2015:25611614}" "" "" "" "China" "" "0" "" "" "" "RH16"
"00373814" "" "" "" "1" "" "00000" "{PMID:Méndez-Vidal 2014:25494902}" "" "" "" "Spain" "" "0" "" "" "" "Pat11"
"00373825" "" "" "" "1" "" "00000" "{PMID:Zhao 2015:25472526}" "simplex case" "" "" "Northern Ireland" "" "0" "" "" "" "Rp141"
"00375416" "" "" "" "1" "" "00000" "{PMID:Katagiri 2014:25268133}" "family" "" "" "Japan" "" "0" "" "" "" "RP#008"
"00375428" "" "" "" "1" "" "00000" "{PMID:Katagiri 2014:25268133}" "family" "" "" "Japan" "" "0" "" "" "" "RP#022"
"00375430" "" "" "" "1" "" "00000" "{PMID:Katagiri 2014:25268133}" "family" "" "" "Japan" "" "0" "" "" "" "RP#024"
"00375432" "" "" "" "1" "" "00000" "{PMID:Katagiri 2014:25268133}" "family" "" "" "Japan" "" "0" "" "" "" "RP#027"
"00375436" "" "" "" "1" "" "00000" "{PMID:Watson 2014:25133751}" "family" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MA2"
"00376195" "" "" "" "1" "" "00000" "{PMID:Barbazetto 2007:18161617}" "" "M" "" "" "" "0" "" "" "European-Americans" ""
"00376198" "" "" "" "1" "" "00000" "{PMID:Barbazetto 2007:18161617}" "" "F" "" "" "" "0" "" "" "European-Americans" ""
"00376310" "" "" "" "1" "" "00000" "{PMID:Avela 2019:18487375}" "" "" "" "Finland" "" "0" "" "" "Finnish" ""
"00376752" "" "" "" "1" "" "00000" "{PMID:Wang 2014:25097241}" "" "M" "" "United States" "" "0" "" "" "" "12"
"00376759" "" "" "" "1" "" "00000" "{PMID:Wang 2014:25097241}" "" "M" "" "United States" "" "0" "" "" "" "19"
"00376762" "" "" "" "1" "" "00000" "{PMID:Wang 2014:25097241}" "" "F" "" "United States" "" "0" "" "" "" "24"
"00376764" "" "" "" "1" "" "00000" "{PMID:Wang 2014:25097241}" "" "M" "" "United States" "" "0" "" "" "" "26"
"00376769" "" "" "" "1" "" "00000" "{PMID:Wang 2014:25097241}" "" "F" "" "United States" "" "0" "" "" "" "33"
"00376774" "" "" "" "1" "" "00000" "{PMID:Wang 2014:25097241}" "" "M" "" "United States" "" "0" "" "" "" "38"
"00376789" "" "" "" "1" "" "00000" "{PMID:Wang 2014:25097241}" "" "F" "" "United States" "" "0" "" "" "" "56"
"00376792" "" "" "" "1" "" "00000" "{PMID:Wang 2014:25097241}" "" "M" "" "United States" "" "0" "" "" "" "59"
"00376793" "" "" "" "1" "" "00000" "{PMID:Wang 2014:25097241}" "" "F" "" "United States" "" "0" "" "" "" "60"
"00376796" "" "" "" "1" "" "00000" "{PMID:Wang 2014:25097241}" "" "F" "" "United States" "" "0" "" "" "" "63"
"00377045" "" "" "" "1" "" "00000" "{PMID:Poloschek-2010:20335603}" "" "M" "" "Germany" "" "0" "" "" "German" ""
"00377191" "" "" "" "1" "" "00000" "Tracewska 2021, MolVis in press" "proband" "M" "no" "Poland" "" "0" "yes" "" "Slavic" "266"
"00377222" "" "" "" "1" "" "00000" "Tracewska 2021, MolVis in press" "proband" "M" "no" "Poland" "" "0" "yes" "" "Slavic" "324"
"00377260" "" "" "" "1" "" "00000" "Tracewska 2021, MolVis in press" "proband" "F" "no" "Poland" "" "0" "yes" "" "Slavic" "383"
"00377534" "" "" "" "1" "" "00000" "{PMID:Hosono 2018:29844330}" "proband, family EYE159" "M" "no" "Japan" "" "0" "" "" "Asian" "EYE159"
"00377538" "" "" "" "2" "" "04521" "{PMID:Hosono 2018:29844330}, Torii 2023, submitted" "proband, family JIKEI-122" "F" "no" "Japan" "" "0" "" "" "Japanese" "JU0954"
"00377539" "" "" "00377538" "1" "" "04521" "{PMID:Hosono 2018:29844330}, Torii 2023, submitted" "relative of JU0954, family JIKEI-122" "M" "no" "Japan" "" "0" "" "" "Japanese" "JU0955"
"00377928" "" "" "" "1" "" "00000" "{PMID: Siemiatkowska 2011:22128245}" "" "F" "yes" "Indonesia" "" "0" "" "" "Indonesian" ""
"00377929" "" "" "" "1" "" "00000" "{PMID: Siemiatkowska 2011:22128245}" "" "M" "yes" "Indonesia" "" "0" "" "" "Indonesian" ""
"00377953" "" "" "" "1" "" "00000" "{PMID:_Audo-2012:22277662}" "Patients with unsolved genotype and unlikely disease causing mutations, but reported as polymorphism" "" "" "" "" "0" "" "" "" ""
"00377959" "" "" "" "1" "" "00000" "{PMID:Thiadens_2012:22264887}" "" "" "no" "" "" "0" "" "" "" ""
"00377960" "" "" "" "1" "" "00000" "{PMID:Thiadens_2012:22264887}" "" "" "no" "" "" "0" "" "" "" ""
"00377961" "" "" "" "1" "" "00000" "{PMID:Thiadens_2012:22264887}" "" "" "no" "" "" "0" "" "" "" ""
"00377962" "" "" "" "1" "" "00000" "{PMID:Thiadens_2012:22264887}" "" "" "no" "" "" "0" "" "" "" ""
"00377964" "" "" "" "1" "" "00000" "{PMID:Thiadens_2012:22264887}" "" "" "no" "" "" "0" "" "" "" ""
"00377965" "" "" "" "1" "" "00000" "{PMID:Thiadens_2012:22264887}" "" "" "no" "" "" "0" "" "" "" ""
"00377966" "" "" "" "2" "" "00000" "{PMID:Thiadens_2012:22264887}" "" "" "no" "" "" "0" "" "" "" ""
"00377967" "" "" "" "2" "" "00000" "{PMID:Thiadens_2012:22264887}" "" "" "no" "" "" "0" "" "" "" ""
"00377968" "" "" "" "1" "" "00000" "{PMID:Thiadens_2012:22264887}" "" "" "no" "" "" "0" "" "" "" ""
"00377969" "" "" "" "1" "" "00000" "{PMID:Thiadens_2012:22264887}" "" "" "no" "" "" "0" "" "" "" ""
"00377970" "" "" "" "1" "" "00000" "{PMID:Thiadens_2012:22264887}" "" "" "no" "" "" "0" "" "" "" ""
"00377971" "" "" "" "1" "" "00000" "{PMID:Thiadens_2012:22264887}" "" "" "no" "" "" "0" "" "" "" ""
"00377972" "" "" "" "1" "" "00000" "{PMID:Thiadens_2012:22264887}" "" "" "no" "" "" "0" "" "" "" ""
"00377973" "" "" "" "1" "" "00000" "{PMID:Thiadens_2012:22264887}" "" "" "no" "" "" "0" "" "" "" ""
"00377974" "" "" "" "1" "" "00000" "{PMID:Thiadens_2012:22264887}" "" "" "no" "" "" "0" "" "" "" ""
"00377976" "" "" "" "3" "" "00000" "{PMID:Thiadens_2012:22264887}" "" "" "no" "" "" "0" "" "" "" ""
"00377977" "" "" "" "3" "" "00000" "{PMID:Thiadens_2012:22264887}" "" "" "no" "" "" "0" "" "" "" ""
"00377978" "" "" "" "5" "" "00000" "{PMID:Thiadens_2012:22264887}" "" "" "no" "" "" "0" "" "" "" ""
"00377979" "" "" "" "1" "" "00000" "{PMID:Thiadens_2012:22264887}" "" "" "no" "" "" "0" "" "" "" ""
"00377980" "" "" "" "1" "" "00000" "{PMID:Thiadens_2012:22264887}" "" "" "no" "" "" "0" "" "" "" ""
"00377981" "" "" "" "1" "" "00000" "{PMID:Thiadens_2012:22264887}" "" "" "no" "" "" "0" "" "" "" ""
"00377982" "" "" "" "1" "" "00000" "{PMID:Thiadens_2012:22264887}" "" "" "no" "" "" "0" "" "" "" ""
"00378010" "" "" "" "1" "" "03508" "" "" "M" "" "Korea, South (Republic)" "" "" "" "" "" "IR_SB_0002"
"00378028" "" "" "" "1" "" "03508" "" "" "" "" "Korea, South (Republic)" "" "" "" "" "" "IR_SH_0014"
"00378064" "" "" "" "1" "" "03508" "" "" "M" "" "Korea, South (Republic)" "" "" "" "" "" "IR_SH_0044"
"00378066" "" "" "" "1" "" "03508" "" "" "M" "" "Korea, South (Republic)" "" "" "" "" "" "IR_SH_0049"
"00379399" "" "" "" "1" "" "00000" "{PMID:Simpson-2011:21147909}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" ""
"00379507" "" "" "" "1" "" "00000" "{PMID:Leng-2012:22466470}" "" "F" "" "" "" "0" "" "" "" ""
"00379508" "" "" "" "1" "" "00000" "{PMID:Leng-2012:22466470}" "" "F" "" "" "" "0" "" "" "" ""
"00379509" "" "" "" "1" "" "00000" "{PMID:Leng-2012:22466470}" "" "M" "" "" "" "0" "" "" "" ""
"00379526" "" "" "" "1" "" "00000" "{PMID:Foote-2019:10480356}" "" "M" "" "United States" "" "0" "" "" "" ""
"00379626" "" "" "" "1" "" "00000" "{PMID:Nishiguchi-2012:22848652}" "" "" "" "" "" "0" "" "" "Yoruba" ""
"00379641" "" "" "" "1" "" "03508" "" "" "F" "" "Korea, South (Republic)" "" "" "" "" "" "IR_GH_0022"
"00379645" "" "" "" "1" "" "03508" "" "" "F" "" "Korea, South (Republic)" "" "" "" "" "" "IR_GH_0027"
"00379661" "" "" "" "1" "" "03508" "" "" "M" "" "Korea, South (Republic)" "" "" "" "" "" "IR_GH_0045"
"00379663" "" "" "" "1" "" "03508" "" "" "F" "" "Korea, South (Republic)" "" "" "" "" "" "IR_GH_0048"
"00379664" "" "" "" "1" "" "03508" "" "" "M" "" "Korea, South (Republic)" "" "" "" "" "" "IR_GH_0049"
"00379669" "" "" "" "1" "" "03508" "" "" "M" "" "Korea, South (Republic)" "" "" "" "" "" "IR_GH_0058"
"00379678" "" "" "" "1" "" "03508" "" "" "F" "" "Korea, South (Republic)" "" "" "" "" "" "IR_GH_0069"
"00379710" "" "" "" "1" "" "00000" "{PMID:Wan 2018:30245926}" "" "?" "" "China" "" "0" "" "" "Han Chinese" "R0025"
"00379759" "" "" "" "1" "" "03508" "" "" "M" "" "Korea, South (Republic)" "" "" "" "" "" "IR_GH_0106"
"00379770" "" "" "" "1" "" "03508" "" "" "M" "" "Korea, South (Republic)" "" "" "" "" "" "IR_GH_0125"
"00379772" "" "" "" "1" "" "03508" "" "" "M" "" "Korea, South (Republic)" "" "" "" "" "" "IR_GH_0129"
"00379778" "" "" "" "1" "" "03508" "" "" "M" "" "Korea, South (Republic)" "" "" "" "" "" "IR_GH_0138"
"00379804" "" "" "" "1" "" "03508" "" "" "F" "" "Korea, South (Republic)" "" "" "" "" "" "IR_GH_0167"
"00380108" "" "" "" "1" "" "00000" "{PMID:Kersten 2018:30215852}" "" "F" "" "" "" "0" "" "" "" "?"
"00380109" "" "" "" "1" "" "00000" "{PMID:Kersten 2018:30215852}" "" "M" "" "" "" "0" "" "" "" "?"
"00380110" "" "" "" "1" "" "00000" "{PMID:Kersten 2018:30215852}" "" "F" "" "" "" "0" "" "" "" "?"
"00380111" "" "" "" "1" "" "00000" "{PMID:Kersten 2018:30215852}" "" "M" "" "" "" "0" "" "" "" "?"
"00380112" "" "" "" "1" "" "00000" "{PMID:Kersten 2018:30215852}" "" "F" "" "" "" "0" "" "" "" "?"
"00380113" "" "" "" "1" "" "00000" "{PMID:Kersten 2018:30215852}" "" "M" "" "" "" "0" "" "" "" "?"
"00380114" "" "" "" "1" "" "00000" "{PMID:Kersten 2018:30215852}" "" "F" "" "" "" "0" "" "" "" "?"
"00380115" "" "" "" "1" "" "00000" "{PMID:Kersten 2018:30215852}" "" "F" "" "" "" "0" "" "" "" "?"
"00380155" "" "" "" "1" "" "03508" "" "" "M" "" "Korea, South (Republic)" "" "" "" "" "" "IR_BDC_0001"
"00380159" "" "" "" "1" "" "03508" "" "" "F" "" "Korea, South (Republic)" "" "" "" "" "" "IR_BDC_0006"
"00380160" "" "" "" "1" "" "03508" "" "" "F" "" "Korea, South (Republic)" "" "" "" "" "" "IR_BDC_0007"
"00380162" "" "" "" "1" "" "03508" "" "" "F" "" "Korea, South (Republic)" "" "" "" "" "" "IR_BDC_0010"
"00380165" "" "" "" "1" "" "03508" "" "" "F" "" "Korea, South (Republic)" "" "" "" "" "" "IR_GH_0199"
"00380180" "" "" "" "1" "" "00000" "{PMID:Ezquerra-Inchausti 2018:30337596}" "Family RP165, II:10" "?" "no" "Spain" "" "0" "" "" "" "II:10"
"00380194" "" "" "" "1" "" "00000" "{PMID:Ezquerra-Inchausti 2018:30337596}" "Family RP193, II:1" "?" "?" "Spain" "" "0" "" "" "" "II:1"
"00380338" "" "" "" "1" "" "00000" "{PMID:Yi-2012:22948568}" "" "M" "" "China" "" "0" "" "" "" ""
"00380339" "" "" "" "1" "" "00000" "{PMID:Yi-2012:22948568}" "" "F" "" "China" "" "0" "" "" "" ""
"00380340" "" "" "" "1" "" "00000" "{PMID:Yi-2012:22948568}" "" "" "" "China" "" "0" "" "" "" ""
"00380366" "" "" "" "1" "" "00000" "{PMID:Khan-2013:23134348}" "" "" "yes" "Pakistan" "" "0" "" "" "Pakistani" ""
"00381002" "" "" "" "1" "" "00000" "{PMID:Schorderet-2013:23484092}" "" "" "" "Switzerland" "" "0" "" "" "Swiss, Algerian or Tunisian" ""
"00381084" "" "" "" "1" "" "00000" "{PMID:Jonsson-2013:23443024}" "" "F" "" "Sweden" "" "0" "" "" "Swedish" ""
"00381085" "" "" "" "1" "" "00000" "{PMID:Jonsson-2013:23443024}" "" "M" "" "Sweden" "" "0" "" "" "Swedish" ""
"00381087" "" "" "" "1" "" "00000" "{PMID:Jonsson-2013:23443024}" "" "F" "" "Sweden" "" "0" "" "" "Swedish" ""
"00381090" "" "" "" "1" "" "00000" "{PMID:Jonsson-2013:23443024}" "" "F" "" "Sweden" "" "0" "" "" "Swedish" ""
"00381602" "" "" "" "1" "" "00000" "{PMID:Eisenberger-2013:24265693}" "" "F" "no" "Germany" "" "0" "" "" "" ""
"00381604" "" "" "" "1" "" "00000" "{PMID:Eisenberger-2013:24265693}" "" "F" "yes" "Germany" "" "0" "" "" "" ""
"00381610" "" "" "" "1" "" "00000" "{PMID:Eisenberger-2013:24265693}" "" "F" "yes" "Iran" "" "0" "" "" "" ""
"00381618" "" "" "" "1" "" "00000" "{PMID:Eisenberger-2013:24265693}" "" "F" "yes" "Iran" "" "0" "" "" "" ""
"00381629" "" "" "" "1" "" "00000" "{PMID:Eisenberger-2013:24265693}" "" "M" "yes" "Germany" "" "0" "" "" "" ""
"00381638" "" "" "" "1" "" "00000" "{PMID:Eisenberger-2013:24265693}" "" "M" "no" "" "" "0" "" "" "Southeast Europe" ""
"00381645" "" "" "" "1" "" "00000" "{PMID:Eisenberger-2013:24265693}" "" "F" "yes" "Congo" "" "0" "" "" "" ""
"00381647" "" "" "" "1" "" "00000" "{PMID:Eisenberger-2013:24265693}" "" "F" "no" "Germany" "" "0" "" "" "" ""
"00381648" "" "" "" "1" "" "00000" "{PMID:Eisenberger-2013:24265693}" "" "F" "no" "Saudi Arabia" "" "0" "" "" "" ""
"00381654" "" "" "" "1" "" "00000" "{PMID:Eisenberger-2013:24265693}" "" "F" "?" "Saudi Arabia" "" "0" "" "" "" ""
"00381655" "" "" "" "1" "" "00000" "{PMID:Eisenberger-2013:24265693}" "" "F" "no" "Germany" "" "0" "" "" "" ""
"00381660" "" "" "" "1" "" "00000" "{PMID:Eisenberger-2013:24265693}" "" "F" "no" "Germany" "" "0" "" "" "" ""
"00381667" "" "" "" "1" "" "00000" "{PMID:Eisenberger-2013:24265693}" "" "M" "yes" "Saudi Arabia" "" "0" "" "" "" ""
"00381668" "" "" "" "1" "" "00000" "{PMID:Eisenberger-2013:24265693}" "" "M" "no" "" "" "0" "" "" "white" ""
"00381674" "" "" "" "1" "" "00000" "{PMID:Eisenberger-2013:24265693}" "" "F" "yes" "Pakistan" "" "0" "" "" "" ""
"00381677" "" "" "" "1" "" "00000" "{PMID:Eisenberger-2013:24265693}" "" "F" "no" "Germany" "" "0" "" "" "" ""
"00381679" "" "" "" "1" "" "00000" "{PMID:Eisenberger-2013:24265693}" "" "M" "no" "Germany" "" "0" "" "" "" ""
"00381681" "" "" "" "1" "" "00000" "{PMID:Eisenberger-2013:24265693}" "" "F" "?" "Germany" "" "0" "" "" "" ""
"00381682" "" "" "" "1" "" "00000" "{PMID:Eisenberger-2013:24265693}" "" "F" "no" "" "" "0" "" "" "" ""
"00381686" "" "" "" "1" "" "00000" "{PMID:Eisenberger-2013:24265693}" "" "F" "yes" "" "" "0" "" "" "North Afrika" ""
"00381687" "" "" "" "1" "" "00000" "{PMID:Eisenberger-2013:24265693}" "" "M" "no" "Germany" "" "0" "" "" "" ""
"00381688" "" "" "" "1" "" "00000" "{PMID:Eisenberger-2013:24265693}" "" "M" "no" "Germany" "" "0" "" "" "" ""
"00381790" "" "" "" "1" "" "00000" "{PMID:Corton-2013:23940504}" "" "" "no" "" "" "0" "" "" "Spanish" "P-01-0570"
"00381791" "" "" "" "1" "" "00000" "{PMID:Corton-2013:23940504}" "" "" "no" "" "" "0" "" "" "Spanish" "P95-0103"
"00381792" "" "" "" "1" "" "00000" "{PMID:Corton-2013:23940504}" "" "" "no" "" "" "0" "" "" "Spanish" "P-07-0366"
"00381893" "" "" "" "1" "" "00000" "{PMID:Birtel 2018:30543658}" "" "F" "" "Germany" "" "0" "" "" "" "43"
"00381949" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2018:30576320}" "" "F" "" "Germany" "" "0" "" "" "" "18"
"00381950" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2018:30576320}" "" "F" "" "Germany" "" "0" "" "" "" "19"
"00381951" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2018:30576320}" "" "M" "" "Germany" "" "0" "" "" "" "20"
"00381952" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2018:30576320}" "" "F" "" "Germany" "" "0" "" "" "" "21"
"00382217" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "46"
"00382289" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "118"
"00382295" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "124"
"00382312" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "141"
"00382372" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "201"
"00382373" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "202"
"00382375" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "204"
"00382520" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "382"
"00382538" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "400"
"00382634" "" "" "" "1" "" "00000" "{PMID:Gonzalez del Pozo 2018:30190494}" "" "?" "no" "Spain" "" "0" "" "" "" "B (II:1)"
"00382635" "" "" "" "1" "" "00000" "{PMID:Gonzalez del Pozo 2018:30190494}" "" "?" "no" "Spain" "" "0" "" "" "" "C (II:1)"
"00382652" "" "" "" "1" "" "00000" "{PMID:Gonzalez del Pozo 2018:30190494}" "" "?" "no" "Spain" "" "0" "" "" "" "T (II:1)"
"00382653" "" "" "" "1" "" "00000" "{PMID:Gonzalez del Pozo 2018:30190494}" "" "?" "no" "Spain" "" "0" "" "" "" "U (II:3)"
"00382654" "" "" "" "1" "" "00000" "{PMID:Gonzalez del Pozo 2018:30190494}" "" "?" "no" "Spain" "" "0" "" "" "" "V (II:1)"
"00382655" "" "" "" "1" "" "00000" "{PMID:Gonzalez del Pozo 2018:30190494}" "" "?" "no" "Spain" "" "0" "" "" "" "W (II:3)"
"00382656" "" "" "" "1" "" "00000" "{PMID:Gonzalez del Pozo 2018:30190494}" "" "?" "no" "Spain" "" "0" "" "" "" "X (II:1)"
"00382661" "" "" "" "1" "" "00000" "{PMID:Gonzalez del Pozo 2018:30190494}" "" "?" "no" "Spain" "" "0" "" "" "" "AC (II:3)"
"00382662" "" "" "" "1" "" "03840" "{PMID:Tracewska 2019:31766579}" "proband" "F" "no" "Poland" "" "0" "yes" "" "Slavic" "225"
"00382663" "" "" "" "1" "" "03840" "{PMID:Tracewska 2019:31766579}" "sister of 225" "F" "no" "Poland" "" "0" "yes" "" "Slavic" "430"
"00382664" "" "" "" "1" "" "03840" "{PMID:Tracewska 2019:31766579}" "proband" "F" "no" "Poland" "" "0" "yes" "" "Slavic" "229"
"00382665" "" "" "" "1" "" "03840" "{PMID:Tracewska 2019:31766579}" "brother of 229" "M" "no" "Poland" "" "0" "yes" "" "Slavic" "444"
"00382666" "" "" "" "1" "" "03840" "{PMID:Tracewska 2019:31766579}" "sister of 229" "F" "no" "Poland" "" "0" "yes" "" "Slavic" "445"
"00382667" "" "" "" "1" "" "03840" "{PMID:Tracewska 2019:31766579}" "proband" "M" "no" "Poland" "" "0" "yes" "" "Slavic" "230"
"00382668" "" "" "" "1" "" "03840" "{PMID:Tracewska 2019:31766579}" "proband" "F" "no" "Poland" "" "0" "yes" "" "Slavic" "231"
"00382669" "" "" "" "1" "" "03840" "{PMID:Tracewska 2019:31766579}" "mother of 231" "F" "no" "Poland" "" "0" "yes" "" "Slavic" "457"
"00382670" "" "" "" "1" "" "03840" "{PMID:Tracewska 2019:31766579}" "proband" "F" "no" "Poland" "" "0" "yes" "" "Slavic" "235"
"00382671" "" "" "" "1" "" "03840" "{PMID:Tracewska 2019:31766579}" "brother of 235" "M" "no" "Poland" "" "0" "yes" "" "Slavic" "461"
"00382672" "" "" "" "1" "" "03840" "{PMID:Tracewska 2019:31766579}" "proband" "M" "no" "Poland" "" "0" "yes" "" "Slavic" "239"
"00382673" "" "" "" "1" "" "03840" "{PMID:Tracewska 2019:31766579}" "proband" "M" "no" "Poland" "" "0" "yes" "" "Slavic" "240"
"00382674" "" "" "" "1" "" "03840" "{PMID:Tracewska 2019:31766579}" "proband" "F" "no" "Poland" "" "0" "yes" "" "Slavic" "247"
"00382675" "" "" "" "1" "" "03840" "{PMID:Tracewska 2019:31766579}" "proband" "M" "no" "Poland" "" "0" "yes" "" "Slavic" "252"
"00382676" "" "" "" "1" "" "03840" "{PMID:Tracewska 2019:31766579}" "proband" "M" "no" "Poland" "" "0" "yes" "" "Slavic" "253"
"00382677" "" "" "" "1" "" "03840" "{PMID:Tracewska 2019:31766579}" "proband" "F" "no" "Poland" "" "0" "yes" "" "Slavic" "255"
"00382678" "" "" "" "1" "" "03840" "{PMID:Tracewska 2019:31766579}" "proband" "M" "no" "Poland" "" "0" "yes" "" "Slavic" "264"
"00382679" "" "" "" "1" "" "03840" "{PMID:Tracewska 2019:31766579}" "proband" "M" "no" "Poland" "" "0" "yes" "" "Slavic" "277"
"00382680" "" "" "" "1" "" "03840" "{PMID:Tracewska 2019:31766579}" "proband" "M" "no" "Poland" "" "0" "yes" "" "Slavic" "284"
"00382681" "" "" "" "1" "" "03840" "{PMID:Tracewska 2019:31766579}" "proband" "F" "no" "Poland" "" "0" "yes" "" "Slavic" "286"
"00382682" "" "" "" "1" "" "03840" "{PMID:Tracewska 2019:31766579}" "proband" "M" "no" "Poland" "" "0" "yes" "" "Slavic" "289"
"00382683" "" "" "" "1" "" "03840" "{PMID:Tracewska 2019:31766579}" "father of 289" "M" "no" "Poland" "" "0" "yes" "" "Slavic" "291"
"00382684" "" "" "" "1" "" "03840" "{PMID:Tracewska 2019:31766579}" "proband" "M" "no" "Poland" "" "0" "yes" "" "Slavic" "298"
"00382685" "" "" "" "1" "" "03840" "{PMID:Tracewska 2019:31766579}" "proband" "F" "no" "Poland" "" "0" "yes" "" "Slavic" "302"
"00382686" "" "" "" "1" "" "03840" "{PMID:Tracewska 2019:31766579}" "proband" "M" "no" "Poland" "" "0" "yes" "" "Slavic" "305"
"00382687" "" "" "" "1" "" "03840" "{PMID:Tracewska 2019:31766579}" "proband" "F" "no" "Poland" "" "0" "yes" "" "Slavic" "309"
"00382688" "" "" "" "1" "" "03840" "{PMID:Tracewska 2019:31766579}" "proband" "F" "no" "Poland" "" "0" "yes" "" "Slavic" "314"
"00382689" "" "" "" "1" "" "03840" "{PMID:Tracewska 2019:31766579}" "proband" "F" "no" "Poland" "" "0" "yes" "" "Slavic" "316"
"00382690" "" "" "" "1" "" "03840" "{PMID:Tracewska 2019:31766579}" "proband" "F" "no" "Poland" "" "0" "yes" "" "Slavic" "318"
"00382691" "" "" "" "1" "" "03840" "{PMID:Tracewska 2019:31766579}" "proband" "M" "no" "Poland" "" "0" "yes" "" "Slavic" "321"
"00382692" "" "" "" "1" "" "03840" "{PMID:Tracewska 2019:31766579}" "proband" "F" "no" "Poland" "" "0" "yes" "" "Slavic" "325"
"00382693" "" "" "" "1" "" "03840" "{PMID:Tracewska 2019:31766579}" "proband" "F" "no" "Poland" "" "0" "yes" "" "Slavic" "327"
"00382694" "" "" "" "1" "" "03840" "{PMID:Tracewska 2019:31766579}" "proband" "M" "yes" "Poland" "" "0" "yes" "" "Slavic" "333"
"00382695" "" "" "" "1" "" "03840" "{PMID:Tracewska 2019:31766579}" "brother of 333" "M" "yes" "Poland" "" "0" "yes" "" "Slavic" "609"
"00382696" "" "" "" "1" "" "03840" "{PMID:Tracewska 2019:31766579}" "proband" "F" "no" "Poland" "" "0" "yes" "" "Slavic" "338"
"00382697" "" "" "" "1" "" "03840" "{PMID:Tracewska 2019:31766579}" "sister of 338" "F" "no" "Poland" "" "0" "yes" "" "Slavic" "527"
"00382698" "" "" "" "1" "" "03840" "{PMID:Tracewska 2019:31766579}" "proband" "F" "no" "Poland" "" "0" "yes" "" "Slavic" "344"
"00382699" "" "" "" "1" "" "03840" "{PMID:Tracewska 2019:31766579}" "proband" "F" "no" "Poland" "" "0" "yes" "" "Slavic" "345"
"00382700" "" "" "" "1" "" "03840" "{PMID:Tracewska 2019:31766579}" "proband" "F" "no" "Poland" "" "0" "yes" "" "Slavic" "347"
"00382701" "" "" "" "1" "" "03840" "{PMID:Tracewska 2019:31766579}" "proband" "F" "no" "Poland" "" "0" "yes" "" "Slavic" "348"
"00382702" "" "" "" "1" "" "03840" "{PMID:Tracewska 2019:31766579}" "proband" "M" "no" "Poland" "" "0" "yes" "" "Slavic" "349"
"00382703" "" "" "" "1" "" "03840" "{PMID:Tracewska 2019:31766579}" "proband" "M" "no" "Poland" "" "0" "yes" "" "Slavic" "351"
"00382704" "" "" "" "1" "" "03840" "{PMID:Tracewska 2019:31766579}" "sister of 351" "F" "no" "Poland" "" "0" "yes" "" "Slavic" "605"
"00382705" "" "" "" "1" "" "03840" "{PMID:Tracewska 2019:31766579}" "proband" "F" "no" "Poland" "" "0" "yes" "" "Slavic" "356"
"00382706" "" "" "" "1" "" "03840" "{PMID:Tracewska 2019:31766579}" "proband" "F" "no" "Poland" "" "0" "yes" "" "Slavic" "363"
"00382707" "" "" "" "1" "" "03840" "{PMID:Tracewska 2019:31766579}" "cousin of 363" "F" "no" "Poland" "" "0" "yes" "" "Slavic" "619"
"00382708" "" "" "" "1" "" "03840" "{PMID:Tracewska 2019:31766579}" "proband" "F" "no" "Poland" "" "0" "yes" "" "Slavic" "364"
"00382709" "" "" "" "1" "" "03840" "{PMID:Tracewska 2019:31766579}" "proband" "M" "no" "Poland" "" "0" "yes" "" "Slavic" "370"
"00382710" "" "" "" "1" "" "03840" "{PMID:Tracewska 2019:31766579}" "brother of 370" "M" "no" "Poland" "" "0" "yes" "" "Slavic" "533"
"00382711" "" "" "" "1" "" "03840" "{PMID:Tracewska 2019:31766579}" "proband" "F" "no" "Poland" "" "0" "yes" "" "Slavic" "373"
"00382712" "" "" "" "1" "" "03840" "{PMID:Tracewska 2019:31766579}" "son of 373" "M" "no" "Poland" "" "0" "yes" "" "Slavic" "615"
"00382713" "" "" "" "1" "" "03840" "{PMID:Tracewska 2019:31766579}" "proband" "M" "no" "Poland" "" "0" "yes" "" "Slavic" "377"
"00382714" "" "" "" "1" "" "03840" "{PMID:Tracewska 2019:31766579}" "proband" "F" "no" "Poland" "" "0" "yes" "" "Slavic" "379"
"00382715" "" "" "" "1" "" "03840" "{PMID:Tracewska 2019:31766579}" "proband" "F" "no" "Poland" "" "0" "yes" "" "Slavic" "385"
"00382716" "" "" "" "1" "" "03840" "{PMID:Tracewska 2019:31766579}" "proband" "F" "no" "Poland" "" "0" "yes" "" "Slavic" "389"
"00382717" "" "" "" "1" "" "03840" "{PMID:Tracewska 2019:31766579}" "proband" "M" "no" "Poland" "" "0" "yes" "" "Slavic" "391"
"00382718" "" "" "" "1" "" "03840" "{PMID:Tracewska 2019:31766579}" "proband" "F" "no" "Poland" "" "0" "yes" "" "Slavic" "397"
"00382719" "" "" "" "1" "" "03840" "{PMID:Tracewska 2019:31766579}" "proband" "F" "no" "Poland" "" "0" "yes" "" "Slavic" "403"
"00382720" "" "" "" "1" "" "03840" "{PMID:Tracewska 2019:31766579}" "proband" "F" "no" "Poland" "" "0" "yes" "" "Slavic" "407"
"00382721" "" "" "" "1" "" "03840" "{PMID:Tracewska 2019:31766579}" "proband" "F" "no" "Poland" "" "0" "yes" "" "Slavic" "410"
"00382722" "" "" "" "1" "" "03840" "{PMID:Tracewska 2019:31766579}" "proband" "M" "yes" "Poland" "" "0" "yes" "" "Slavic" "413"
"00382723" "" "" "" "1" "" "03840" "{PMID:Tracewska 2019:31766579}" "proband" "M" "no" "Poland" "" "0" "yes" "" "Slavic" "417"
"00382724" "" "" "" "1" "" "03840" "{PMID:Tracewska 2019:31766579}" "proband" "F" "no" "Poland" "" "0" "yes" "" "Slavic" "418"
"00382725" "" "" "" "1" "" "03840" "{PMID:Tracewska 2019:31766579}" "proband" "F" "no" "Poland" "" "0" "yes" "" "Slavic" "419"
"00382726" "" "" "" "1" "" "03840" "{PMID:Tracewska 2019:31766579}" "proband" "M" "no" "Poland" "" "0" "yes" "" "Slavic" "420"
"00382727" "" "" "" "1" "" "03840" "{PMID:Tracewska 2019:31766579}" "proband" "M" "no" "Poland" "" "0" "yes" "" "Slavic" "424"
"00382728" "" "" "" "1" "" "03840" "{PMID:Tracewska 2019:31766579}" "proband" "F" "no" "Poland" "" "0" "yes" "" "Slavic" "427"
"00382729" "" "" "" "1" "" "03840" "{PMID:Tracewska 2019:31766579}" "proband" "F" "no" "Poland" "" "0" "yes" "" "Slavic" "428"
"00382730" "" "" "" "1" "" "03840" "{PMID:Tracewska 2019:31766579}" "proband" "F" "no" "Poland" "" "0" "yes" "" "Slavic" "478"
"00382731" "" "" "" "1" "" "03840" "{PMID:Tracewska 2019:31766579}" "proband" "F" "no" "Poland" "" "0" "yes" "" "Slavic" "479"
"00382732" "" "" "" "1" "" "03840" "{PMID:Tracewska 2019:31766579}" "proband" "F" "no" "Poland" "" "0" "yes" "" "Slavic" "480"
"00382733" "" "" "" "1" "" "03840" "{PMID:Tracewska 2019:31766579}" "proband" "M" "no" "Poland" "" "0" "yes" "" "Slavic" "485"
"00382734" "" "" "" "1" "" "03840" "{PMID:Tracewska 2019:31766579}" "proband" "M" "no" "Poland" "" "0" "yes" "" "Slavic" "486"
"00382735" "" "" "" "1" "" "03840" "{PMID:Tracewska 2019:31766579}" "proband" "M" "no" "Poland" "" "0" "yes" "" "Slavic" "490"
"00382736" "" "" "" "1" "" "03840" "{PMID:Tracewska 2019:31766579}" "father of 490" "M" "no" "Poland" "" "0" "yes" "" "Slavic" "643"
"00382799" "" "" "" "1" "" "00000" "{PMID:Song-2011:22025579}" "" "F" "" "" "" "0" "" "" "" ""
"00382804" "" "" "" "1" "" "00000" "{PMID:Song-2011:22025579}" "" "M" "" "" "" "0" "" "" "" ""
"00382805" "" "" "" "1" "" "00000" "{PMID:Song-2011:22025579}" "" "M" "" "" "" "0" "" "" "" ""
"00382806" "" "" "" "1" "" "00000" "{PMID:Song-2011:22025579}" "" "M" "" "" "" "0" "" "" "" ""
"00382807" "" "" "" "1" "" "00000" "{PMID:Song-2011:22025579}" "" "F" "" "" "" "0" "" "" "" ""
"00383392" "" "" "" "1" "" "00000" "{PMID:Khan 2019:31725702}" "" "F" "" "" "" "0" "" "" "" ""
"00383393" "" "" "" "1" "" "00000" "{PMID:Khan 2019:31725702}" "" "F" "" "" "" "0" "" "" "" ""
"00383394" "" "" "" "1" "" "00000" "{PMID:Khan 2019:31725702}" "" "F" "" "" "" "0" "" "" "" ""
"00383395" "" "" "" "1" "" "00000" "{PMID:Khan 2019:31725702}" "" "F" "" "" "" "0" "" "" "" ""
"00383396" "" "" "" "1" "" "00000" "{PMID:Khan 2019:31725702}" "" "M" "" "" "" "0" "" "" "" ""
"00383397" "" "" "" "1" "" "00000" "{PMID:Khan 2019:31725702}" "" "M" "" "" "" "0" "" "" "" ""
"00383398" "" "" "" "1" "" "00000" "{PMID:Khan 2019:31725702}" "" "M" "" "" "" "0" "" "" "" ""
"00383399" "" "" "" "1" "" "00000" "{PMID:Khan 2019:31725702}" "" "M" "" "" "" "0" "" "" "" ""
"00383400" "" "" "" "1" "" "00000" "{PMID:Khan 2019:31725702}" "" "M" "" "" "" "0" "" "" "" ""
"00383401" "" "" "" "1" "" "00000" "{PMID:Khan 2019:31725702}" "" "M" "" "" "" "0" "" "" "" ""
"00383402" "" "" "" "1" "" "00000" "{PMID:Khan 2019:31725702}" "" "M" "" "" "" "0" "" "" "" ""
"00383403" "" "" "" "1" "" "00000" "{PMID:Khan 2019:31725702}" "" "F" "" "" "" "0" "" "" "" ""
"00383404" "" "" "" "1" "" "00000" "{PMID:Khan 2019:31725702}" "" "F" "" "" "" "0" "" "" "" ""
"00383405" "" "" "" "1" "" "00000" "{PMID:Khan 2019:31725702}" "" "F" "" "" "" "0" "" "" "" ""
"00383500" "" "" "" "1" "" "00000" "{PMID:Kim 2019:31496144}" "" "?" "" "Korea, South (Republic)" "" "0" "" "" "" "?"
"00383507" "" "" "" "1" "" "00000" "{PMID:Kim 2019:31496144}" "" "?" "" "Korea, South (Republic)" "" "0" "" "" "" "?"
"00383512" "" "" "" "1" "" "00000" "{PMID:Kim 2019:31496144}" "" "?" "" "Korea, South (Republic)" "" "0" "" "" "" "?"
"00383513" "" "" "" "1" "" "00000" "{PMID:Kim 2019:31496144}" "" "?" "" "Korea, South (Republic)" "" "0" "" "" "" "?"
"00383514" "" "" "" "1" "" "00000" "{PMID:Kim 2019:31496144}" "" "?" "" "Korea, South (Republic)" "" "0" "" "" "" "?"
"00383515" "" "" "" "1" "" "00000" "{PMID:Kim 2019:31496144}" "" "?" "" "Korea, South (Republic)" "" "0" "" "" "" "?"
"00383516" "" "" "" "1" "" "00000" "{PMID:Kim 2019:31496144}" "" "?" "" "Korea, South (Republic)" "" "0" "" "" "" "?"
"00383517" "" "" "" "1" "" "00000" "{PMID:Kim 2019:31496144}" "" "?" "" "Korea, South (Republic)" "" "0" "" "" "" "?"
"00383695" "" "" "" "1" "" "00000" "{PMID:Del Pozo-Valero:31129250}" "individual ID family_patient or only family number for probands with unknown pedigree" "?" "" "Spain" "" "0" "" "" "" "RP-2680"
"00383799" "" "" "" "1" "" "00000" "{PMID:Gao 2019:31054281}" "" "?" "" "China" "" "0" "" "" "" "RD18184100_B"
"00383810" "" "" "" "1" "" "00000" "{PMID:Gao 2019:31054281}" "" "?" "" "China" "" "0" "" "" "" "RD18184151_B"
"00383813" "" "" "" "1" "" "00000" "{PMID:Gao 2019:31054281}" "" "?" "" "China" "" "0" "" "" "" "RD18184160_B"
"00383850" "" "" "" "1" "" "00000" "{PMID:Nasser 2019:30945053}" "" "M" "" "Germany" "" "0" "" "" "" "1"
"00383851" "" "" "" "1" "" "00000" "{PMID:Nasser 2019:30945053}" "" "F" "" "Germany" "" "0" "" "" "" "2"
"00383909" "" "" "" "1" "" "00000" "{PMID:Martin Merida 2019:30902645}" "" "?" "" "Spain" "" "0" "" "" "" "RP-0193"
"00383935" "" "" "" "1" "" "00000" "{PMID:Martin Merida 2019:30902645}" "" "?" "" "Spain" "" "0" "" "" "" "RP-0714"
"00383939" "" "" "" "1" "" "00000" "{PMID:Martin Merida 2019:30902645}" "" "?" "" "Spain" "" "0" "" "" "" "RP-0741"
"00383957" "" "" "" "1" "" "00000" "{PMID:Martin Merida 2019:30902645}" "" "?" "" "Spain" "" "0" "" "" "" "RP-0993"
"00383963" "" "" "" "1" "" "00000" "{PMID:Martin Merida 2019:30902645}" "" "?" "" "Spain" "" "0" "" "" "" "RP-1058"
"00383969" "" "" "" "1" "" "00000" "{PMID:Martin Merida 2019:30902645}" "" "?" "" "Spain" "" "0" "" "" "" "RP-1112"
"00383984" "" "" "" "1" "" "00000" "{PMID:Martin Merida 2019:30902645}" "" "?" "" "Spain" "" "0" "" "" "" "RP-1370"
"00383995" "" "" "" "1" "" "00000" "{PMID:Martin Merida 2019:30902645}" "" "?" "" "Spain" "" "0" "" "" "" "RP-1481"
"00383999" "" "" "" "1" "" "00000" "{PMID:Martin Merida 2019:30902645}" "" "?" "" "Spain" "" "0" "" "" "" "RP-1539"
"00384000" "" "" "" "1" "" "00000" "{PMID:Martin Merida 2019:30902645}" "" "?" "" "Spain" "" "0" "" "" "" "RP-1543"
"00384005" "" "" "" "1" "" "00000" "{PMID:Martin Merida 2019:30902645}" "" "?" "" "Spain" "" "0" "" "" "" "RP-1593"
"00384027" "" "" "" "1" "" "00000" "{PMID:Martin Merida 2019:30902645}" "" "?" "" "Spain" "" "0" "" "" "" "RP-1742"
"00384029" "" "" "" "1" "" "00000" "{PMID:Martin Merida 2019:30902645}" "" "?" "" "Spain" "" "0" "" "" "" "RP-1769"
"00384049" "" "" "" "1" "" "00000" "{PMID:Martin Merida 2019:30902645}" "" "?" "" "Spain" "" "0" "" "" "" "RP-1916"
"00384061" "" "" "" "1" "" "00000" "{PMID:Martin Merida 2019:30902645}" "" "?" "" "Spain" "" "0" "" "" "" "RP-2028"
"00384071" "" "" "" "1" "" "00000" "{PMID:Martin Merida 2019:30902645}" "" "?" "" "Spain" "" "0" "" "" "" "RP-2104"
"00384077" "" "" "" "1" "" "00000" "{PMID:Martin Merida 2019:30902645}" "" "?" "" "Spain" "" "0" "" "" "" "RP-2143"
"00384088" "" "" "" "1" "" "00000" "{PMID:Martin Merida 2019:30902645}" "" "?" "" "Spain" "" "0" "" "" "" "RP-2198"
"00384090" "" "" "" "1" "" "00000" "{PMID:Martin Merida 2019:30902645}" "" "?" "" "Spain" "" "0" "" "" "" "RP-2210"
"00384106" "" "" "" "1" "" "00000" "{PMID:Martin Merida 2019:30902645}" "" "?" "" "Spain" "" "0" "" "" "" "RP-2343"
"00384113" "" "" "" "1" "" "00000" "{PMID:Martin Merida 2019:30902645}" "" "?" "" "Spain" "" "0" "" "" "" "RP-2386"
"00384118" "" "" "" "1" "" "00000" "{PMID:Martin Merida 2019:30902645}" "" "?" "" "Spain" "" "0" "" "" "" "RP-2419"
"00384130" "" "" "" "1" "" "00000" "{PMID:Martin Merida 2019:30902645}" "" "?" "" "Spain" "" "0" "" "" "" "RP-2492"
"00384133" "" "" "" "1" "" "00000" "{PMID:Martin Merida 2019:30902645}" "" "?" "" "Spain" "" "0" "" "" "" "RP-2520"
"00384149" "" "" "" "1" "" "00000" "{PMID:Martin Merida 2019:30902645}" "" "?" "" "Spain" "" "0" "" "" "" "RP-2704"
"00384150" "" "" "" "1" "" "00000" "{PMID:Martin Merida 2019:30902645}" "" "?" "" "Spain" "" "0" "" "" "" "RP-2711"
"00384177" "" "" "" "1" "" "00000" "{PMID:Martin Merida 2019:30902645}" "" "?" "" "Spain" "" "0" "" "" "" "RP-3007"
"00384188" "" "" "" "1" "" "00000" "{PMID:Tayebi 2019:30820146}" "" "" "" "Iran" "" "0" "" "" "" "066592"
"00384189" "" "" "" "1" "" "00000" "{PMID:Tayebi 2019:30820146}" "" "" "" "Iran" "" "0" "" "" "" "066595"
"00384190" "" "" "" "1" "" "00000" "{PMID:Tayebi 2019:30820146}" "" "" "" "Iran" "" "0" "" "" "" "066599"
"00384194" "" "" "" "1" "" "00000" "{PMID:Tayebi 2019:30820146}" "" "" "" "Iran" "" "0" "" "" "" "066854"
"00384199" "" "" "" "1" "" "00000" "{PMID:Tayebi 2019:30820146}" "" "" "" "Iran" "" "0" "" "" "" "066863"
"00384206" "" "" "" "1" "" "00000" "{PMID:Tayebi 2019:30820146}" "" "" "" "Iran" "" "0" "" "" "" "066876"
"00384631" "" "" "" "1" "" "00000" "{PMID:Ehrenberg 2019:31814694}" "" "M" "no" "Israel" "" "0" "" "" "" "Family 8 patient 1"
"00385615" "" "" "" "1" "" "00000" "{PMID:de Castro-Miró-2014:24516651}" "" "" "" "" "" "0" "" "" "" "17NCE"
"00385878" "" "" "" "1" "" "00000" "{PMID:Birtel 2020:32013026}" "mother of V:1 and V:2" "F" "" "(Germany)" "" "0" "" "" "white" "IV.4"
"00385956" "" "" "" "1" "" "00000" "{PMID:Shanks-2013:22968130}" "2 affected male cousins. Parents heterozygous for mutation" "" "yes" "" "" "0" "" "" "" ""
"00385957" "" "" "" "1" "" "00000" "{PMID:Shanks-2013:22968130}" "Affected sister consanguineous first cousin parents,Sister positive for homozygous mutation positive for homozygous mutation" "" "yes" "" "" "0" "" "" "" ""
"00385958" "" "" "" "1" "" "00000" "{PMID:Shanks-2013:22968130}" "" "" "" "" "" "0" "" "" "" ""
"00385959" "" "" "" "1" "" "00000" "{PMID:Shanks-2013:22968130}" "" "" "" "" "" "0" "" "" "" ""
"00386166" "" "" "" "1" "" "00000" "{PMID:Rodriguez-Munoz 2020:32036094}" "family fRPN-110, family member" "M" "" "Spain" "" "0" "" "" "" "RPN-256"
"00386169" "" "" "" "1" "" "00000" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "?" "" "Spain" "" "0" "" "" "" "RPN-279"
"00386171" "" "" "" "1" "" "00000" "{PMID:Rodriguez-Munoz 2020:32036094}" "family fRPN-126, proband" "M" "" "Spain" "" "0" "" "" "" "RPN-283"
"00386176" "" "" "" "1" "" "00000" "{PMID:Rodriguez-Munoz 2020:32036094}" "family fRPN-132, proband" "M" "" "Spain" "" "0" "" "" "" "RPN-289"
"00386177" "" "" "" "1" "" "00000" "{PMID:Rodriguez-Munoz 2020:32036094}" "family fRPN-132, family member" "M" "" "Spain" "" "0" "" "" "" "RPN-587"
"00386178" "" "" "" "1" "" "00000" "{PMID:Rodriguez-Munoz 2020:32036094}" "family fRPN-133, proband" "M" "" "Spain" "" "0" "" "" "" "RPN-290"
"00386179" "" "" "" "1" "" "00000" "{PMID:Rodriguez-Munoz 2020:32036094}" "family fRPN-134, proband" "F" "" "Spain" "" "0" "" "" "" "RPN-291"
"00386181" "" "" "" "1" "" "00000" "{PMID:Rodriguez-Munoz 2020:32036094}" "family fRPN-137, proband" "F" "" "Spain" "" "0" "" "" "" "RPN-294"
"00386198" "" "" "" "1" "" "00000" "{PMID:Rodriguez-Munoz 2020:32036094}" "family fRPN-153, proband" "F" "" "Spain" "" "0" "" "" "" "RPN-317"
"00386201" "" "" "" "1" "" "00000" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "?" "" "Spain" "" "0" "" "" "" "RPN-320"
"00386206" "" "" "" "1" "" "00000" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "?" "" "Spain" "" "0" "" "" "" "RPN-326"
"00386207" "" "" "" "1" "" "00000" "{PMID:Rodriguez-Munoz 2020:32036094}" "family fRPN-162, proband" "F" "" "Spain" "" "0" "" "" "" "RPN-327"
"00386209" "" "" "" "1" "" "00000" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "?" "" "Spain" "" "0" "" "" "" "RPN-330"
"00386217" "" "" "" "1" "" "00000" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "?" "" "Spain" "" "0" "" "" "" "RPN-339"
"00386218" "" "" "" "1" "" "00000" "{PMID:Rodriguez-Munoz 2020:32036094}" "family fRPN-173, proband" "M" "" "Spain" "" "0" "" "" "" "RPN-342"
"00386221" "" "" "" "1" "" "00000" "{PMID:Rodriguez-Munoz 2020:32036094}" "family fRPN-175, proband" "F" "" "Spain" "" "0" "" "" "" "RPN-347"
"00386223" "" "" "" "1" "" "00000" "{PMID:Rodriguez-Munoz 2020:32036094}" "family fRPN-179, proband" "F" "" "Spain" "" "0" "" "" "" "RPN-379"
"00386227" "" "" "" "1" "" "00000" "{PMID:Rodriguez-Munoz 2020:32036094}" "family fRPN-185, proband" "M" "" "Spain" "" "0" "" "" "" "RPN-406"
"00386229" "" "" "" "1" "" "00000" "{PMID:Rodriguez-Munoz 2020:32036094}" "family fRPN-187, proband" "F" "" "Spain" "" "0" "" "" "" "RPN-410"
"00386233" "" "" "" "1" "" "00000" "{PMID:Rodriguez-Munoz 2020:32036094}" "family fRPN-197, proband" "F" "" "Spain" "" "0" "" "" "" "RPN-442"
"00386235" "" "" "" "1" "" "00000" "{PMID:Rodriguez-Munoz 2020:32036094}" "family fRPN-199, proband" "F" "" "Spain" "" "0" "" "" "" "RPN-445"
"00386242" "" "" "" "1" "" "00000" "{PMID:Rodriguez-Munoz 2020:32036094}" "family fRPN-206, proband" "F" "" "Spain" "" "0" "" "" "" "RPN-463"
"00386246" "" "" "" "1" "" "00000" "{PMID:Rodriguez-Munoz 2020:32036094}" "family fRPN-212, proband" "M" "" "Spain" "" "0" "" "" "" "RPN-478"
"00386252" "" "" "" "1" "" "00000" "{PMID:Rodriguez-Munoz 2020:32036094}" "family fRPN-220, proband" "F" "" "Spain" "" "0" "" "" "" "RPN-510"
"00386255" "" "" "" "1" "" "00000" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "?" "" "Spain" "" "0" "" "" "" "RPN-536"
"00386261" "" "" "" "1" "" "00000" "{PMID:Rodriguez-Munoz 2020:32036094}" "family fRPN-239, proband" "M" "" "Spain" "" "0" "" "" "" "RPN-609"
"00386267" "" "" "" "1" "" "00000" "{PMID:Rodriguez-Munoz 2020:32036094}" "family fRPN-45, proband" "M" "" "Spain" "" "0" "" "" "" "RPN-116"
"00386269" "" "" "" "1" "" "00000" "{PMID:Rodriguez-Munoz 2020:32036094}" "family fRPN-50, proband" "F" "" "Spain" "" "0" "" "" "" "RPN-125"
"00386270" "" "" "" "1" "" "00000" "{PMID:Rodriguez-Munoz 2020:32036094}" "family fRPN-50, family member" "F" "" "Spain" "" "0" "" "" "" "RPN-126"
"00386281" "" "" "" "1" "" "00000" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "?" "" "Spain" "" "0" "" "" "" "RPN-191"
"00386301" "" "" "" "1" "" "00000" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "?" "" "Spain" "" "0" "" "" "" "RP-44"
"00386557" "" "" "" "1" "" "00000" "{PMID:Zampaglione 2020:32037395}" "" "?" "" "" "" "0" "" "" "" "001-161"
"00386691" "" "" "" "1" "" "00000" "{PMID:Zampaglione 2020:32037395}" "" "?" "" "" "" "0" "" "" "" "OGI1091_002156"
"00386704" "" "" "" "1" "" "00000" "{PMID:Zampaglione 2020:32037395}" "" "?" "" "" "" "0" "" "" "" "OGI2830_004415"
"00386716" "" "" "" "1" "" "00000" "{PMID:Zampaglione 2020:32037395}" "" "?" "" "" "" "0" "" "" "" "OGI2850_004435"
"00386719" "" "" "" "1" "" "00000" "{PMID:Zampaglione 2020:32037395}" "" "?" "" "" "" "0" "" "" "" "OGI2853_004438"
"00386733" "" "" "" "1" "" "00000" "{PMID:Zampaglione 2020:32037395}" "" "?" "" "" "" "0" "" "" "" "OGI2871_004456"
"00386737" "" "" "" "1" "" "00000" "{PMID:Zampaglione 2020:32037395}" "" "?" "" "" "" "0" "" "" "" "OGI2880_004465"
"00386753" "" "" "" "1" "" "00000" "{PMID:Zampaglione 2020:32037395}" "" "?" "" "" "" "0" "" "" "" "OGI2900_004485"
"00386761" "" "" "" "1" "" "00000" "{PMID:Zampaglione 2020:32037395}" "" "?" "" "" "" "0" "" "" "" "OGI2910_004495"
"00386764" "" "" "" "1" "" "00000" "{PMID:Zampaglione 2020:32037395}" "" "?" "" "" "" "0" "" "" "" "OGI2913_004498"
"00386773" "" "" "" "1" "" "00000" "{PMID:Zampaglione 2020:32037395}" "" "?" "" "" "" "0" "" "" "" "OGI2922_004507"
"00386778" "" "" "" "1" "" "00000" "{PMID:Zampaglione 2020:32037395}" "" "?" "" "" "" "0" "" "" "" "OGI2929_004514"
"00386788" "" "" "" "1" "" "00000" "{PMID:Zampaglione 2020:32037395}" "" "?" "" "" "" "0" "" "" "" "OGI2942_004527"
"00386806" "" "" "" "1" "" "00000" "{PMID:Zampaglione 2020:32037395}" "" "?" "" "" "" "0" "" "" "" "OGI2963_004548"
"00386817" "" "" "" "1" "" "00000" "{PMID:Zampaglione 2020:32037395}" "" "?" "" "" "" "0" "" "" "" "OGI605_001243"
"00386819" "" "" "" "1" "" "00000" "{PMID:Zampaglione 2020:32037395}" "" "?" "" "" "" "0" "" "" "" "OGI612_001252"
"00386836" "" "" "" "1" "" "00000" "{PMID:Zampaglione 2020:32037395}" "" "?" "" "" "" "0" "" "" "" "OGI655_001331"
"00386855" "" "" "" "1" "" "00000" "{PMID:Zampaglione 2020:32037395}" "" "?" "" "" "" "0" "" "" "" "OGI743_001463"
"00386862" "" "" "" "1" "" "00000" "{PMID:Zampaglione 2020:32037395}" "" "?" "" "" "" "0" "" "" "" "OGI802_001554"
"00386863" "" "" "" "1" "" "00000" "{PMID:Zampaglione 2020:32037395}" "" "?" "" "" "" "0" "" "" "" "OGI897_001813"
"00386884" "" "" "" "1" "" "00000" "{PMID:Zampaglione 2020:32037395}" "" "?" "" "" "" "0" "" "" "" "OGI1032_002044"
"00386918" "" "" "" "1" "" "00000" "{PMID:Liu 2020:32090030}" "older sister of RP02-III:2" "F" "no" "" "" "0" "" "" "" "RP02-III:1"
"00387506" "" "" "" "1" "" "00000" "{PMID:Matsui 2015:26393467}" "Previously described in Cideciyan et al., 2004" "F" "" "United States" "" "0" "" "" "" ""
"00387509" "" "" "" "1" "" "00000" "{PMID:Matsui 2015:26393467}" "" "F" "" "United States" "" "0" "" "" "" ""
"00387512" "" "" "" "1" "" "00000" "{PMID:Matsui 2015:26393467}" "" "M" "" "United States" "" "0" "" "" "" ""
"00387517" "" "" "" "1" "" "00000" "{PMID:Matsui 2015:26393467}" "Previously described in Huang et al., 2014" "F" "" "United States" "" "0" "" "" "" ""
"00387518" "" "" "" "1" "" "00000" "{PMID:Matsui 2015:26393467}" "" "F" "" "United States" "" "0" "" "" "" ""
"00388051" "" "" "" "1" "" "00000" "{PMID:D\'Angelo 2017:28290600}" "Wife of P1" "F" "" "Italy" "" "0" "" "" "" ""
"00388052" "" "" "" "1" "" "00000" "{PMID:D\'Angelo 2017:28290600}" "Daugther of P1 and P2" "F" "" "Italy" "" "0" "" "" "" ""
"00388261" "" "" "" "1" "" "00000" "{PMID:Toulis 2020:32244552}" "proband" "F" "" "Spain" "" "0" "" "" "" "1.1"
"00388262" "" "" "" "1" "" "00000" "{PMID:Toulis 2020:32244552}" "proband" "M" "" "Spain" "" "0" "" "" "" "2.1"
"00388265" "" "" "" "1" "" "00000" "{PMID:Toulis 2020:32244552}" "Affected sister of 1.1" "F" "" "Spain" "" "0" "" "" "" "1.2"
"00388303" "" "" "" "1" "" "00000" "{PMID:Tao 2020:32448990}" "" "M" "" "China" "" "0" "" "" "" "P06"
"00388541" "" "" "" "1" "" "00000" "{PMID:Dineiro 2020:32483926}" "" "?" "" "Spain" "" "0" "" "" "" "OFTALMO.002"
"00388558" "" "" "" "1" "" "00000" "{PMID:Dineiro 2020:32483926}" "" "?" "" "Spain" "" "0" "" "" "" "OFTALMO.019"
"00388560" "" "" "" "1" "" "00000" "{PMID:Dineiro 2020:32483926}" "" "?" "" "Spain" "" "0" "" "" "" "OFTALMO.021"
"00388572" "" "" "" "1" "" "00000" "{PMID:Dineiro 2020:32483926}" "" "?" "" "Spain" "" "0" "" "" "" "OFTALMO.063"
"00388574" "" "" "" "1" "" "00000" "{PMID:Dineiro 2020:32483926}" "" "?" "" "Spain" "" "0" "" "" "" "OFTALMO.076"
"00388580" "" "" "" "1" "" "00000" "{PMID:Dineiro 2020:32483926}" "" "?" "" "Spain" "" "0" "" "" "" "OFTALMO.094"
"00388581" "" "" "" "1" "" "00000" "{PMID:Dineiro 2020:32483926}" "" "?" "" "Spain" "" "0" "" "" "" "OFTALMO.072"
"00388582" "" "" "" "1" "" "00000" "{PMID:Dineiro 2020:32483926}" "" "?" "" "Spain" "" "0" "" "" "" "OFTALMO.095"
"00390087" "" "" "" "1" "" "00000" "{PMID:Turro 2020:32581362}" "only individuals with mutations in retinal disease genes from this publication were inserted into LOVD" "?" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "G000984"
"00390088" "" "" "" "1" "" "00000" "{PMID:Turro 2020:32581362}" "only individuals with mutations in retinal disease genes from this publication were inserted into LOVD" "?" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "G001049"
"00390089" "" "" "" "1" "" "00000" "{PMID:Turro 2020:32581362}" "only individuals with mutations in retinal disease genes from this publication were inserted into LOVD" "?" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "G001289"
"00390090" "" "" "" "1" "" "00000" "{PMID:Turro 2020:32581362}" "only individuals with mutations in retinal disease genes from this publication were inserted into LOVD" "?" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "G001330"
"00390091" "" "" "" "1" "" "00000" "{PMID:Turro 2020:32581362}" "only individuals with mutations in retinal disease genes from this publication were inserted into LOVD" "?" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "G001369"
"00390092" "" "" "" "1" "" "00000" "{PMID:Turro 2020:32581362}" "only individuals with mutations in retinal disease genes from this publication were inserted into LOVD" "?" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "G001403"
"00390093" "" "" "" "1" "" "00000" "{PMID:Turro 2020:32581362}" "only individuals with mutations in retinal disease genes from this publication were inserted into LOVD" "?" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "G001416"
"00390094" "" "" "" "1" "" "00000" "{PMID:Turro 2020:32581362}" "only individuals with mutations in retinal disease genes from this publication were inserted into LOVD" "?" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "G001419"
"00390095" "" "" "" "1" "" "00000" "{PMID:Turro 2020:32581362}" "only individuals with mutations in retinal disease genes from this publication were inserted into LOVD" "?" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "G001433"
"00390096" "" "" "" "1" "" "00000" "{PMID:Turro 2020:32581362}" "only individuals with mutations in retinal disease genes from this publication were inserted into LOVD" "?" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "G004709"
"00390097" "" "" "" "1" "" "00000" "{PMID:Turro 2020:32581362}" "only individuals with mutations in retinal disease genes from this publication were inserted into LOVD" "?" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "G004710"
"00390098" "" "" "" "1" "" "00000" "{PMID:Turro 2020:32581362}" "only individuals with mutations in retinal disease genes from this publication were inserted into LOVD" "?" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "G004717"
"00390099" "" "" "" "1" "" "00000" "{PMID:Turro 2020:32581362}" "only individuals with mutations in retinal disease genes from this publication were inserted into LOVD" "?" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "G004996"
"00390100" "" "" "" "1" "" "00000" "{PMID:Turro 2020:32581362}" "only individuals with mutations in retinal disease genes from this publication were inserted into LOVD" "?" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "G005205"
"00390101" "" "" "" "1" "" "00000" "{PMID:Turro 2020:32581362}" "only individuals with mutations in retinal disease genes from this publication were inserted into LOVD" "?" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "G005226"
"00390102" "" "" "" "1" "" "00000" "{PMID:Turro 2020:32581362}" "only individuals with mutations in retinal disease genes from this publication were inserted into LOVD" "?" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "G005234"
"00390103" "" "" "" "1" "" "00000" "{PMID:Turro 2020:32581362}" "only individuals with mutations in retinal disease genes from this publication were inserted into LOVD" "?" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "G005248"
"00390104" "" "" "" "1" "" "00000" "{PMID:Turro 2020:32581362}" "only individuals with mutations in retinal disease genes from this publication were inserted into LOVD" "?" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "G005494"
"00390105" "" "" "" "1" "" "00000" "{PMID:Turro 2020:32581362}" "only individuals with mutations in retinal disease genes from this publication were inserted into LOVD" "?" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "G005506"
"00390106" "" "" "" "1" "" "00000" "{PMID:Turro 2020:32581362}" "only individuals with mutations in retinal disease genes from this publication were inserted into LOVD" "?" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "G005993"
"00390107" "" "" "" "1" "" "00000" "{PMID:Turro 2020:32581362}" "only individuals with mutations in retinal disease genes from this publication were inserted into LOVD" "?" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "G006002"
"00390108" "" "" "" "1" "" "00000" "{PMID:Turro 2020:32581362}" "only individuals with mutations in retinal disease genes from this publication were inserted into LOVD" "?" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "G007675"
"00390109" "" "" "" "1" "" "00000" "{PMID:Turro 2020:32581362}" "only individuals with mutations in retinal disease genes from this publication were inserted into LOVD" "?" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "G007676"
"00390110" "" "" "" "1" "" "00000" "{PMID:Turro 2020:32581362}" "only individuals with mutations in retinal disease genes from this publication were inserted into LOVD" "?" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "G007677"
"00390111" "" "" "" "1" "" "00000" "{PMID:Turro 2020:32581362}" "only individuals with mutations in retinal disease genes from this publication were inserted into LOVD" "?" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "G007680"
"00390112" "" "" "" "1" "" "00000" "{PMID:Turro 2020:32581362}" "only individuals with mutations in retinal disease genes from this publication were inserted into LOVD" "?" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "G007681"
"00390113" "" "" "" "1" "" "00000" "{PMID:Turro 2020:32581362}" "only individuals with mutations in retinal disease genes from this publication were inserted into LOVD" "?" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "G007682"
"00390114" "" "" "" "1" "" "00000" "{PMID:Turro 2020:32581362}" "only individuals with mutations in retinal disease genes from this publication were inserted into LOVD" "?" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "G007697"
"00390115" "" "" "" "1" "" "00000" "{PMID:Turro 2020:32581362}" "only individuals with mutations in retinal disease genes from this publication were inserted into LOVD" "?" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "G007698"
"00390116" "" "" "" "1" "" "00000" "{PMID:Turro 2020:32581362}" "only individuals with mutations in retinal disease genes from this publication were inserted into LOVD" "?" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "G007710"
"00390117" "" "" "" "1" "" "00000" "{PMID:Turro 2020:32581362}" "only individuals with mutations in retinal disease genes from this publication were inserted into LOVD" "?" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "G007712"
"00390118" "" "" "" "1" "" "00000" "{PMID:Turro 2020:32581362}" "only individuals with mutations in retinal disease genes from this publication were inserted into LOVD" "?" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "G007717"
"00390119" "" "" "" "1" "" "00000" "{PMID:Turro 2020:32581362}" "only individuals with mutations in retinal disease genes from this publication were inserted into LOVD" "?" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "G007718"
"00390120" "" "" "" "1" "" "00000" "{PMID:Turro 2020:32581362}" "only individuals with mutations in retinal disease genes from this publication were inserted into LOVD" "?" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "G007729"
"00390121" "" "" "" "1" "" "00000" "{PMID:Turro 2020:32581362}" "only individuals with mutations in retinal disease genes from this publication were inserted into LOVD" "?" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "G007730"
"00390122" "" "" "" "1" "" "00000" "{PMID:Turro 2020:32581362}" "only individuals with mutations in retinal disease genes from this publication were inserted into LOVD" "?" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "G007731"
"00390123" "" "" "" "1" "" "00000" "{PMID:Turro 2020:32581362}" "only individuals with mutations in retinal disease genes from this publication were inserted into LOVD" "?" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "G007736"
"00390124" "" "" "" "1" "" "00000" "{PMID:Turro 2020:32581362}" "only individuals with mutations in retinal disease genes from this publication were inserted into LOVD" "?" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "G007747"
"00390125" "" "" "" "1" "" "00000" "{PMID:Turro 2020:32581362}" "only individuals with mutations in retinal disease genes from this publication were inserted into LOVD" "?" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "G007753"
"00390126" "" "" "" "1" "" "00000" "{PMID:Turro 2020:32581362}" "only individuals with mutations in retinal disease genes from this publication were inserted into LOVD" "?" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "G007754"
"00390127" "" "" "" "1" "" "00000" "{PMID:Turro 2020:32581362}" "only individuals with mutations in retinal disease genes from this publication were inserted into LOVD" "?" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "G007755"
"00390128" "" "" "" "1" "" "00000" "{PMID:Turro 2020:32581362}" "only individuals with mutations in retinal disease genes from this publication were inserted into LOVD" "?" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "G007756"
"00390129" "" "" "" "1" "" "00000" "{PMID:Turro 2020:32581362}" "only individuals with mutations in retinal disease genes from this publication were inserted into LOVD" "?" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "G007758"
"00390130" "" "" "" "1" "" "00000" "{PMID:Turro 2020:32581362}" "only individuals with mutations in retinal disease genes from this publication were inserted into LOVD" "?" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "G008143"
"00390131" "" "" "" "1" "" "00000" "{PMID:Turro 2020:32581362}" "only individuals with mutations in retinal disease genes from this publication were inserted into LOVD" "?" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "G008144"
"00390132" "" "" "" "1" "" "00000" "{PMID:Turro 2020:32581362}" "only individuals with mutations in retinal disease genes from this publication were inserted into LOVD" "?" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "G008146"
"00390133" "" "" "" "1" "" "00000" "{PMID:Turro 2020:32581362}" "only individuals with mutations in retinal disease genes from this publication were inserted into LOVD" "?" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "G008147"
"00390134" "" "" "" "1" "" "00000" "{PMID:Turro 2020:32581362}" "only individuals with mutations in retinal disease genes from this publication were inserted into LOVD" "?" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "G008161"
"00390135" "" "" "" "1" "" "00000" "{PMID:Turro 2020:32581362}" "only individuals with mutations in retinal disease genes from this publication were inserted into LOVD" "?" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "G008164"
"00390136" "" "" "" "1" "" "00000" "{PMID:Turro 2020:32581362}" "only individuals with mutations in retinal disease genes from this publication were inserted into LOVD" "?" "" "" "" "0" "" "" "" "G008165"
"00390137" "" "" "" "1" "" "00000" "{PMID:Turro 2020:32581362}" "only individuals with mutations in retinal disease genes from this publication were inserted into LOVD" "?" "" "" "" "0" "" "" "" "G008168"
"00390138" "" "" "" "1" "" "00000" "{PMID:Turro 2020:32581362}" "only individuals with mutations in retinal disease genes from this publication were inserted into LOVD" "?" "" "" "" "0" "" "" "" "G008169"
"00390139" "" "" "" "1" "" "00000" "{PMID:Turro 2020:32581362}" "only individuals with mutations in retinal disease genes from this publication were inserted into LOVD" "?" "" "" "" "0" "" "" "" "G009824"
"00390140" "" "" "" "1" "" "00000" "{PMID:Turro 2020:32581362}" "only individuals with mutations in retinal disease genes from this publication were inserted into LOVD" "?" "" "" "" "0" "" "" "" "G009828"
"00390141" "" "" "" "1" "" "00000" "{PMID:Turro 2020:32581362}" "only individuals with mutations in retinal disease genes from this publication were inserted into LOVD" "?" "" "" "" "0" "" "" "" "G009835"
"00390142" "" "" "" "1" "" "00000" "{PMID:Turro 2020:32581362}" "only individuals with mutations in retinal disease genes from this publication were inserted into LOVD" "?" "" "" "" "0" "" "" "" "G009845"
"00390143" "" "" "" "1" "" "00000" "{PMID:Turro 2020:32581362}" "only individuals with mutations in retinal disease genes from this publication were inserted into LOVD" "?" "" "" "" "0" "" "" "" "G009850"
"00390144" "" "" "" "1" "" "00000" "{PMID:Turro 2020:32581362}" "only individuals with mutations in retinal disease genes from this publication were inserted into LOVD" "?" "" "" "" "0" "" "" "" "G009851"
"00390145" "" "" "" "1" "" "00000" "{PMID:Turro 2020:32581362}" "only individuals with mutations in retinal disease genes from this publication were inserted into LOVD" "?" "" "" "" "0" "" "" "" "G012301"
"00390146" "" "" "" "1" "" "00000" "{PMID:Turro 2020:32581362}" "only individuals with mutations in retinal disease genes from this publication were inserted into LOVD" "?" "" "" "" "0" "" "" "" "G012344"
"00390147" "" "" "" "1" "" "00000" "{PMID:Turro 2020:32581362}" "only individuals with mutations in retinal disease genes from this publication were inserted into LOVD" "?" "" "" "" "0" "" "" "" "G012345"
"00390148" "" "" "" "1" "" "00000" "{PMID:Turro 2020:32581362}" "only individuals with mutations in retinal disease genes from this publication were inserted into LOVD" "?" "" "" "" "0" "" "" "" "G012346"
"00390149" "" "" "" "1" "" "00000" "{PMID:Turro 2020:32581362}" "only individuals with mutations in retinal disease genes from this publication were inserted into LOVD" "?" "" "" "" "0" "" "" "" "W000142"
"00390150" "" "" "" "1" "" "00000" "{PMID:Turro 2020:32581362}" "only individuals with mutations in retinal disease genes from this publication were inserted into LOVD" "?" "" "" "" "0" "" "" "" "W000144"
"00390151" "" "" "" "1" "" "00000" "{PMID:Turro 2020:32581362}" "only individuals with mutations in retinal disease genes from this publication were inserted into LOVD" "?" "" "" "" "0" "" "" "" "W000178"
"00390152" "" "" "" "1" "" "00000" "{PMID:Turro 2020:32581362}" "only individuals with mutations in retinal disease genes from this publication were inserted into LOVD" "?" "" "" "" "0" "" "" "" "W000186"
"00390153" "" "" "" "1" "" "00000" "{PMID:Turro 2020:32581362}" "only individuals with mutations in retinal disease genes from this publication were inserted into LOVD" "?" "" "" "" "0" "" "" "" "W000187"
"00390154" "" "" "" "1" "" "00000" "{PMID:Turro 2020:32581362}" "only individuals with mutations in retinal disease genes from this publication were inserted into LOVD" "?" "" "" "" "0" "" "" "" "W000368"
"00390155" "" "" "" "1" "" "00000" "{PMID:Turro 2020:32581362}" "only individuals with mutations in retinal disease genes from this publication were inserted into LOVD" "?" "" "" "" "0" "" "" "" "W000380"
"00390792" "" "" "" "1" "" "00000" "{PMID:Booij-2011:20801516}" "" "" "" "" "" "0" "" "" "" ""
"00390795" "" "" "" "1" "" "00000" "{PMID:Booij-2011:20801516}" "" "" "" "" "" "0" "" "" "" ""
"00390802" "" "" "" "1" "" "00000" "{PMID:Booij-2011:20801516}" "" "" "" "" "" "0" "" "" "" ""
"00390840" "" "" "" "1" "" "00000" "{PMID:Maggi_2021:33546218}" "" "F" "" "Switzerland" "" "0" "" "" "" ""
"00390842" "" "" "" "1" "" "00000" "{PMID:Maggi_2021:33546218}" "" "F" "" "Switzerland" "" "0" "" "" "" ""
"00390843" "" "" "" "1" "" "00000" "{PMID:Maggi_2021:33546218}" "" "F" "" "Switzerland" "" "0" "" "" "" ""
"00390845" "" "" "" "1" "" "00000" "{PMID:Maggi_2021:33546218}" "" "M" "" "Switzerland" "" "0" "" "" "" ""
"00390846" "" "" "" "1" "" "00000" "{PMID:Maggi_2021:33546218}" "" "F" "" "Switzerland" "" "0" "" "" "" ""
"00390847" "" "" "" "1" "" "00000" "{PMID:Maggi_2021:33546218}" "" "F" "" "Switzerland" "" "0" "" "" "" ""
"00390848" "" "" "" "1" "" "00000" "{PMID:Maggi_2021:33546218}" "" "F" "" "Switzerland" "" "0" "" "" "" ""
"00390849" "" "" "" "1" "" "00000" "{PMID:Maggi_2021:33546218}" "" "M" "" "Switzerland" "" "0" "" "" "" ""
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"00390856" "" "" "" "1" "" "00000" "{PMID:Maggi_2021:33546218}" "" "F" "" "Switzerland" "" "0" "" "" "" ""
"00390860" "" "" "" "1" "" "00000" "{PMID:Maggi_2021:33546218}" "" "M" "" "Switzerland" "" "0" "" "" "" ""
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"00390862" "" "" "" "1" "" "00000" "{PMID:Maggi_2021:33546218}" "" "F" "" "Switzerland" "" "0" "" "" "" ""
"00390864" "" "" "" "1" "" "00000" "{PMID:Maggi_2021:33546218}" "" "F" "" "Switzerland" "" "0" "" "" "" ""
"00390865" "" "" "" "1" "" "00000" "{PMID:Maggi_2021:33546218}" "" "M" "" "Switzerland" "" "0" "" "" "" ""
"00390868" "" "" "" "1" "" "00000" "{PMID:Maggi_2021:33546218}" "" "F" "" "Switzerland" "" "0" "" "" "" ""
"00390871" "" "" "" "1" "" "00000" "{PMID:Maggi_2021:33546218}" "" "F" "" "Switzerland" "" "0" "" "" "" ""
"00390878" "" "" "" "1" "" "00000" "{PMID:Maggi_2021:33546218}" "" "F" "" "Switzerland" "" "0" "" "" "" ""
"00390880" "" "" "" "1" "" "00000" "{PMID:Maggi_2021:33546218}" "" "M" "" "Switzerland" "" "0" "" "" "" ""
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"00390886" "" "" "" "1" "" "00000" "{PMID:Maggi_2021:33546218}" "" "M" "" "Switzerland" "" "0" "" "" "" ""
"00390887" "" "" "" "1" "" "00000" "{PMID:Maggi_2021:33546218}" "" "M" "" "Switzerland" "" "0" "" "" "" ""
"00390888" "" "" "" "1" "" "00000" "{PMID:Maggi_2021:33546218}" "" "M" "" "Switzerland" "" "0" "" "" "" ""
"00390889" "" "" "" "1" "" "00000" "{PMID:Maggi_2021:33546218}" "" "F" "" "Switzerland" "" "0" "" "" "" ""
"00390890" "" "" "" "1" "" "00000" "{PMID:Maggi_2021:33546218}" "" "F" "" "Switzerland" "" "0" "" "" "" ""
"00390891" "" "" "" "1" "" "00000" "{PMID:Maggi_2021:33546218}" "" "F" "" "Switzerland" "" "0" "" "" "" ""
"00390898" "" "" "" "1" "" "00000" "{PMID:Maggi_2021:33546218}" "" "M" "" "Switzerland" "" "0" "" "" "" ""
"00390900" "" "" "" "1" "" "00000" "{PMID:Maggi_2021:33546218}" "" "F" "" "Switzerland" "" "0" "" "" "" ""
"00390901" "" "" "" "1" "" "00000" "{PMID:Maggi_2021:33546218}" "" "M" "" "Switzerland" "" "0" "" "" "" ""
"00390902" "" "" "" "1" "" "00000" "{PMID:Maggi_2021:33546218}" "" "F" "" "Switzerland" "" "0" "" "" "" ""
"00390903" "" "" "" "1" "" "00000" "{PMID:Maggi_2021:33546218}" "" "F" "" "Switzerland" "" "0" "" "" "" ""
"00390904" "" "" "" "1" "" "00000" "{PMID:Maggi_2021:33546218}" "" "F" "" "Switzerland" "" "0" "" "" "" ""
"00390907" "" "" "" "1" "" "00000" "{PMID:Maggi_2021:33546218}" "" "F" "" "Switzerland" "" "0" "" "" "" ""
"00390908" "" "" "" "1" "" "00000" "{PMID:Maggi_2021:33546218}" "" "M" "" "Switzerland" "" "0" "" "" "" ""
"00390911" "" "" "" "1" "" "00000" "{PMID:Maggi_2021:33546218}" "" "M" "" "Switzerland" "" "0" "" "" "" ""
"00390912" "" "" "" "1" "" "00000" "{PMID:Maggi_2021:33546218}" "" "F" "" "Switzerland" "" "0" "" "" "" ""
"00390913" "" "" "" "1" "" "00000" "{PMID:Maggi_2021:33546218}" "" "F" "" "Switzerland" "" "0" "" "" "" ""
"00390915" "" "" "" "1" "" "00000" "{PMID:Maggi_2021:33546218}" "" "F" "" "Switzerland" "" "0" "" "" "" ""
"00390917" "" "" "" "1" "" "00000" "{PMID:Maggi_2021:33546218}" "" "M" "" "Switzerland" "" "0" "" "" "" ""
"00390918" "" "" "" "1" "" "00000" "{PMID:Maggi_2021:33546218}" "" "F" "" "Switzerland" "" "0" "" "" "" ""
"00390920" "" "" "" "1" "" "00000" "{PMID:Maggi_2021:33546218}" "" "F" "" "Switzerland" "" "0" "" "" "" ""
"00390921" "" "" "" "1" "" "00000" "{PMID:Maggi_2021:33546218}" "" "M" "" "Switzerland" "" "0" "" "" "" ""
"00390923" "" "" "" "1" "" "00000" "{PMID:Maggi_2021:33546218}" "" "F" "" "Switzerland" "" "0" "" "" "" ""
"00390926" "" "" "" "1" "" "00000" "{PMID:Maggi_2021:33546218}" "" "F" "" "Switzerland" "" "0" "" "" "" ""
"00390927" "" "" "" "1" "" "00000" "{PMID:Maggi_2021:33546218}" "" "M" "" "Switzerland" "" "0" "" "" "" ""
"00390929" "" "" "" "1" "" "00000" "{PMID:Maggi_2021:33546218}" "" "M" "" "Switzerland" "" "0" "" "" "" ""
"00390933" "" "" "" "1" "" "00000" "{PMID:Maggi_2021:33546218}" "" "M" "" "Switzerland" "" "0" "" "" "" ""
"00390934" "" "" "" "1" "" "00000" "{PMID:Maggi_2021:33546218}" "" "M" "" "Switzerland" "" "0" "" "" "" ""
"00390935" "" "" "" "1" "" "00000" "{PMID:Maggi_2021:33546218}" "" "F" "" "Switzerland" "" "0" "" "" "" ""
"00390940" "" "" "" "1" "" "00000" "{PMID:Maggi_2021:33546218}" "" "M" "" "Switzerland" "" "0" "" "" "" ""
"00390946" "" "" "" "1" "" "00000" "{PMID:Maggi_2021:33546218}" "" "F" "" "Switzerland" "" "0" "" "" "" ""
"00390949" "" "" "" "1" "" "00000" "{PMID:Maggi_2021:33546218}" "" "M" "" "Switzerland" "" "0" "" "" "" ""
"00390951" "" "" "" "1" "" "00000" "{PMID:Maggi_2021:33546218}" "" "M" "" "Switzerland" "" "0" "" "" "" ""
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"00390956" "" "" "" "1" "" "00000" "{PMID:Maggi_2021:33546218}" "" "F" "" "Switzerland" "" "0" "" "" "" ""
"00390957" "" "" "" "1" "" "00000" "{PMID:Maggi_2021:33546218}" "" "F" "" "Switzerland" "" "0" "" "" "" ""
"00390959" "" "" "" "1" "" "00000" "{PMID:Maggi_2021:33546218}" "" "M" "" "Switzerland" "" "0" "" "" "" ""
"00390960" "" "" "" "1" "" "00000" "{PMID:Maggi_2021:33546218}" "" "M" "" "Switzerland" "" "0" "" "" "" ""
"00390964" "" "" "" "1" "" "00000" "{PMID:Maggi_2021:33546218}" "" "F" "" "Switzerland" "" "0" "" "" "" ""
"00390965" "" "" "" "1" "" "00000" "{PMID:Maggi_2021:33546218}" "" "M" "" "Switzerland" "" "0" "" "" "" ""
"00390966" "" "" "" "1" "" "00000" "{PMID:Maggi_2021:33546218}" "" "M" "" "Switzerland" "" "0" "" "" "" ""
"00390969" "" "" "" "1" "" "00000" "{PMID:Maggi_2021:33546218}" "" "F" "" "Switzerland" "" "0" "" "" "" ""
"00390970" "" "" "" "1" "" "00000" "{PMID:Maggi_2021:33546218}" "" "F" "" "Switzerland" "" "0" "" "" "" ""
"00390974" "" "" "" "1" "" "00000" "{PMID:Maggi_2021:33546218}" "" "F" "" "Switzerland" "" "0" "" "" "" ""
"00390975" "" "" "" "1" "" "00000" "{PMID:Maggi_2021:33546218}" "" "M" "" "Switzerland" "" "0" "" "" "" ""
"00390976" "" "" "" "1" "" "00000" "{PMID:Maggi_2021:33546218}" "" "M" "" "Switzerland" "" "0" "" "" "" ""
"00390978" "" "" "" "1" "" "00000" "{PMID:Maggi_2021:33546218}" "" "M" "" "Switzerland" "" "0" "" "" "" ""
"00390982" "" "" "" "1" "" "00000" "{PMID:Maggi_2021:33546218}" "" "F" "" "Switzerland" "" "0" "" "" "" ""
"00390987" "" "" "" "1" "" "00000" "{PMID:Maggi_2021:33546218}" "" "M" "" "Switzerland" "" "0" "" "" "" ""
"00390990" "" "" "" "1" "" "00000" "{PMID:Maggi_2021:33546218}" "" "F" "" "Switzerland" "" "0" "" "" "" ""
"00390994" "" "" "" "1" "" "00000" "{PMID:Maggi_2021:33546218}" "" "M" "" "Switzerland" "" "0" "" "" "" ""
"00390995" "" "" "" "1" "" "00000" "{PMID:Maggi_2021:33546218}" "" "F" "" "Switzerland" "" "0" "" "" "" ""
"00390996" "" "" "" "1" "" "00000" "{PMID:Maggi_2021:33546218}" "" "M" "" "Switzerland" "" "0" "" "" "" ""
"00391000" "" "" "" "1" "" "00000" "{PMID:Maggi_2021:33546218}" "" "M" "" "Switzerland" "" "0" "" "" "" ""
"00391001" "" "" "" "1" "" "00000" "{PMID:Maggi_2021:33546218}" "" "F" "" "Switzerland" "" "0" "" "" "" ""
"00391002" "" "" "" "1" "" "00000" "{PMID:Maggi_2021:33546218}" "" "F" "" "Switzerland" "" "0" "" "" "" ""
"00391003" "" "" "" "1" "" "00000" "{PMID:Maggi_2021:33546218}" "" "M" "" "Switzerland" "" "0" "" "" "" ""
"00391004" "" "" "" "1" "" "00000" "{PMID:Maggi_2021:33546218}" "" "M" "" "Switzerland" "" "0" "" "" "" ""
"00391005" "" "" "" "1" "" "00000" "{PMID:Maggi_2021:33546218}" "" "F" "" "Switzerland" "" "0" "" "" "" ""
"00391008" "" "" "" "1" "" "00000" "{PMID:Maggi_2021:33546218}" "" "M" "" "Switzerland" "" "0" "" "" "" ""
"00391010" "" "" "" "1" "" "00000" "{PMID:Maggi_2021:33546218}" "" "M" "" "Switzerland" "" "0" "" "" "" ""
"00391011" "" "" "" "1" "" "00000" "{PMID:Maggi_2021:33546218}" "" "M" "" "Switzerland" "" "0" "" "" "" ""
"00391012" "" "" "" "1" "" "00000" "{PMID:Maggi_2021:33546218}" "" "F" "" "Switzerland" "" "0" "" "" "" ""
"00391013" "" "" "" "1" "" "00000" "{PMID:Maggi_2021:33546218}" "" "M" "" "Switzerland" "" "0" "" "" "" ""
"00391014" "" "" "" "1" "" "00000" "{PMID:Maggi_2021:33546218}" "" "M" "" "Switzerland" "" "0" "" "" "" ""
"00391015" "" "" "" "1" "" "00000" "{PMID:Maggi_2021:33546218}" "" "F" "" "Switzerland" "" "0" "" "" "" ""
"00391192" "" "" "" "1" "" "00000" "{PMID:Gliem 2020:32646556}" "" "F" "" "(Germany)" "" "0" "" "" "" "154"
"00391590" "" "" "" "1" "cc_by-nc-nd_4.0;1" "04206" "{PMID:Tian 2022:35657619}, {PMID:Tian 2022:35973334}, {PMID:Tian 2024:37774808}" "" "F" "" "China" "" "0" "" "" "" "010444"
"00391591" "" "" "" "1" "" "04206" "{PMID:Tian 2022:35657619}, {PMID:Tian 2024:37774808}" "" "F" "" "China" "" "0" "" "" "" "010708"
"00392139" "" "" "" "1" "" "00000" "{PMID:Rodriguez Munoz 2021:33411470}" "family ID fRPN-219, proband\'s sister" "F" "" "Spain" "" "0" "" "" "" "RPN-507"
"00392140" "" "" "" "1" "" "00000" "{PMID:Rodriguez Munoz 2021:33411470}" "family ID fRPN-219, proband" "M" "" "Spain" "" "0" "" "" "" "RPN-508"
"00392164" "" "" "" "1" "" "00000" "{PMID:Rodriguez Munoz 2021:33411470}" "family ID fRPN-219, proband\'s sister" "F" "" "Spain" "" "0" "" "" "" "RPN-507"
"00392165" "" "" "" "1" "" "00000" "{PMID:Rodriguez Munoz 2021:33411470}" "family ID fRPN-219, proband" "M" "" "Spain" "" "0" "" "" "" "RPN-508"
"00392283" "" "" "" "1" "" "04206" "{PMID:Tian 2022:35657619}, {PMID:Tian 2024:37774808}" "" "M" "no" "China" "" "0" "" "" "" "010174"
"00392504" "" "" "" "1" "" "04206" "{PMID:Tian 2022:35657619}, {PMID:Tian 2024:37774808}" "" "" "" "China" "" "0" "" "" "" "010672"
"00392505" "" "" "" "1" "" "04206" "{PMID:Tian 2022:35657619}, {PMID:Tian 2024:37774808}" "" "F" "" "China" "" "0" "" "" "" "010091"
"00392506" "" "" "" "1" "" "04206" "{PMID:Tian 2022:35657619}, {PMID:Tian 2024:37774808}" "" "F" "no" "China" "" "0" "" "" "" "010705"
"00392507" "" "" "" "1" "" "04206" "{PMID:Tian 2022:35657619}, {PMID:Tian 2024:37774808}" "" "M" "" "China" "" "0" "" "" "" "010565"
"00392508" "" "" "" "1" "" "04206" "{PMID:Tian 2022:35657619}, {PMID:Tian 2024:37774808}" "" "M" "no" "China" "" "0" "" "" "" "010611"
"00392509" "" "" "" "1" "" "04206" "{PMID:Tian 2022:35657619}, {PMID:Tian 2024:37774808}" "" "M" "no" "China" "" "0" "" "" "" "010105"
"00392510" "" "" "" "1" "" "04206" "{PMID:Tian 2022:35657619}, {PMID:Tian 2024:37774808}" "" "F" "" "China" "" "0" "" "" "" "010493"
"00392511" "" "" "" "1" "" "04206" "{PMID:Tian 2022:35657619}, {PMID:Tian 2024:37774808}" "" "M" "" "China" "" "0" "" "" "" "010506"
"00392515" "" "" "" "1" "" "04206" "{PMID:Tian 2022:35657619}, {PMID:Tian 2024:37774808}" "" "F" "" "China" "" "0" "" "" "" "010088"
"00392517" "" "" "" "1" "" "04206" "{PMID:Tian 2022:35657619}, {PMID:Tian 2024:37774808}" "" "F" "no" "China" "" "0" "" "" "" "010554"
"00392521" "" "" "" "1" "" "04206" "{PMID:Tian 2022:35657619}, {PMID:Tian 2024:37774808}" "" "F" "" "China" "" "0" "" "" "" "010093"
"00392531" "" "" "" "1" "" "04206" "{PMID:Tian 2022:35657619}, {PMID:Tian 2024:37774808}" "" "F" "" "China" "" "0" "" "" "" "010656"
"00392536" "" "" "" "1" "" "04206" "{PMID:Tian 2022:35657619}, {PMID:Tian 2024:37774808}" "" "F" "" "China" "" "0" "" "" "" "010208"
"00392541" "" "" "" "1" "" "04206" "{PMID:Tian 2022:35657619}, {PMID:Tian 2024:37774808}" "" "F" "" "China" "" "0" "" "" "" "010716"
"00392543" "" "" "" "1" "" "04206" "{PMID:Tian 2022:35657619}, {PMID:Tian 2024:37774808}" "" "F" "" "China" "" "0" "" "" "" "010626"
"00392547" "" "" "" "1" "" "04206" "{PMID:Tian 2022:35657619}, {PMID:Tian 2024:37774808}" "" "M" "" "China" "" "0" "" "" "" "010278"
"00392550" "" "" "" "1" "" "04206" "{PMID:Tian 2022:35657619}, {PMID:Tian 2024:37774808}" "" "F" "" "China" "" "0" "" "" "" "010658"
"00392564" "" "" "" "1" "" "00000" "{PMID:Ma 2021:33691693}" "" "?" "" "Korea" "" "0" "" "" "" "1"
"00392572" "" "" "" "1" "" "00000" "{PMID:Ma 2021:33691693}" "" "?" "" "Korea" "" "0" "" "" "" "17"
"00392573" "" "" "" "1" "" "00000" "{PMID:Ma 2021:33691693}" "" "?" "" "Korea" "" "0" "" "" "" "19"
"00392585" "" "" "" "1" "" "00000" "{PMID:Ma 2021:33691693}" "" "?" "" "Korea" "" "0" "" "" "" "40"
"00392588" "" "" "" "1" "" "00000" "{PMID:Ma 2021:33691693}" "" "?" "" "Korea" "" "0" "" "" "" "43"
"00392605" "" "" "" "1" "" "00000" "{PMID:Ma 2021:33691693}" "" "?" "" "Korea" "" "0" "" "" "" "65"
"00392612" "" "" "" "1" "" "00000" "{PMID:Ma 2021:33691693}" "" "?" "" "Korea" "" "0" "" "" "" "75"
"00392613" "" "" "" "1" "" "00000" "{PMID:Ma 2021:33691693}" "" "?" "" "Korea" "" "0" "" "" "" "76"
"00392617" "" "" "" "1" "" "00000" "{PMID:Ma 2021:33691693}" "" "?" "" "Korea" "" "0" "" "" "" "81"
"00392618" "" "" "" "1" "" "00000" "{PMID:Ma 2021:33691693}" "" "?" "" "Korea" "" "0" "" "" "" "85"
"00392619" "" "" "" "1" "" "00000" "{PMID:Ma 2021:33691693}" "" "?" "" "Korea" "" "0" "" "" "" "86"
"00392623" "" "" "" "1" "" "00000" "{PMID:Ma 2021:33691693}" "" "?" "" "Korea" "" "0" "" "" "" "93"
"00392624" "" "" "" "1" "" "00000" "{PMID:Ma 2021:33691693}" "" "?" "" "Korea" "" "0" "" "" "" "96"
"00392633" "" "" "" "1" "" "00000" "{PMID:Ma 2021:33691693}" "" "?" "" "Korea" "" "0" "" "" "" "112"
"00392643" "" "" "" "1" "" "00000" "{PMID:Ma 2021:33691693}" "" "?" "" "Korea" "" "0" "" "" "" "124"
"00392671" "" "" "" "1" "" "00000" "{PMID:Ma 2021:33691693}" "" "?" "" "Korea" "" "0" "" "" "" "165"
"00392751" "" "" "" "1" "" "04206" "{PMID:Tian 2022:35657619}, {PMID:Tian 2024:37774808}" "" "F" "no" "China" "" "0" "" "" "" "010034"
"00392752" "" "" "" "1" "" "04206" "{PMID:Tian 2022:35657619}, {PMID:Tian 2024:37774808}" "" "F" "no" "China" "" "0" "" "" "" "010516"
"00392753" "" "" "" "1" "" "04206" "{PMID:Tian 2022:35657619}" "" "F" "no" "China" "" "0" "" "" "" "010528"
"00392754" "" "" "" "1" "" "04206" "{PMID:Tian 2022:35657619}, {PMID:Tian 2024:37774808}" "" "M" "" "China" "" "0" "" "" "" "010471"
"00392755" "" "" "" "1" "" "04206" "{PMID:Tian 2022:35657619}, {PMID:Tian 2024:37774808}" "" "M" "no" "China" "" "0" "" "" "" "010066"
"00392756" "" "" "" "1" "" "04206" "{PMID:Tian 2022:35657619}" "" "F" "" "China" "" "0" "" "" "" "010279"
"00392757" "" "" "" "1" "" "04206" "{PMID:Tian 2022:35657619}, {PMID:Tian 2024:37774808}" "" "F" "" "China" "" "0" "" "" "" "010228"
"00392758" "" "" "" "1" "" "04206" "{PMID:Tian 2022:35657619}, {PMID:Tian 2024:37774808}" "" "F" "no" "China" "" "0" "" "" "" "010436"
"00392759" "" "" "" "1" "" "04206" "{PMID:Tian 2022:35657619}, {PMID:Tian 2024:37774808}" "" "F" "" "China" "" "0" "" "" "" "010326"
"00392760" "" "" "" "1" "" "04206" "{PMID:Tian 2022:35657619}, {PMID:Tian 2024:37774808}" "" "M" "" "(China)" "" "0" "" "" "" "A1560"
"00392761" "" "" "" "1" "" "04206" "{PMID:Tian 2022:35657619}, {PMID:Tian 2024:37774808}" "" "M" "no" "(China)" "" "0" "" "" "" "010632"
"00392762" "" "" "" "1" "" "04206" "{PMID:Tian 2022:35657619}, {PMID:Tian 2024:37774808}" "" "M" "no" "China" "" "0" "" "" "" "010003"
"00392763" "" "" "" "1" "" "04206" "{PMID:Tian 2022:35657619}, {PMID:Tian 2024:37774808}" "" "F" "" "China" "" "0" "" "" "" "010070"
"00393309" "" "" "" "1" "" "00000" "{PMID:Ng 2021:33846575}" "Family 1, patient II:4 (proband)" "F" "no" "China" "" "0" "" "" "" "1_II:4"
"00393310" "" "" "" "1" "" "00000" "{PMID:Ng 2021:33846575}" "Family 1, patient II:1 (proband\'s older sister)" "F" "no" "China" "" "0" "" "" "" "1_II:1"
"00393311" "" "" "" "1" "" "00000" "{PMID:Ng 2021:33846575}" "Family 2, patient II:1 (proband)" "M" "yes" "China" "" "0" "" "" "" "2_II:1"
"00393312" "" "" "" "1" "" "00000" "{PMID:Ng 2021:33846575}" "Family 2, patient II:2 (proband\'s younger sister)" "F" "yes" "China" "" "0" "" "" "" "2_II:2"
"00393315" "" "" "" "1" "" "00000" "{PMID:Ng 2021:33846575}" "" "F" "?" "China" "" "0" "" "" "" "STGD-3"
"00393316" "" "" "" "1" "" "00000" "{PMID:Ng 2021:33846575}" "" "F" "?" "China" "" "0" "" "" "" "STGD-4"
"00393317" "" "" "" "1" "" "00000" "{PMID:Ng 2021:33846575}" "" "M" "?" "China" "" "0" "" "" "" "RP-048"
"00393318" "" "" "" "1" "" "00000" "{PMID:Ng 2021:33846575}" "" "M" "?" "China" "" "0" "" "" "" "RP-089"
"00393319" "" "" "" "1" "" "00000" "{PMID:Ng 2021:33846575}" "" "M" "?" "China" "" "0" "" "" "" "RP-107"
"00393320" "" "" "" "1" "" "00000" "{PMID:Ng 2021:33846575}" "" "F" "?" "China" "" "0" "" "" "" "RP-014"
"00393321" "" "" "" "1" "" "00000" "{PMID:Ng 2021:33846575}" "" "M" "?" "China" "" "0" "" "" "" "RP-033"
"00393322" "" "" "" "1" "" "00000" "{PMID:Ng 2021:33846575}" "" "M" "?" "China" "" "0" "" "" "" "RP-054"
"00393323" "" "" "" "1" "" "00000" "{PMID:Ng 2021:33846575}" "" "F" "?" "China" "" "0" "" "" "" "RP-058"
"00393324" "" "" "" "1" "" "00000" "{PMID:Ng 2021:33846575}" "" "M" "?" "China" "" "0" "" "" "" "RP-063"
"00393325" "" "" "" "1" "" "00000" "{PMID:Ng 2021:33846575}" "" "M" "?" "China" "" "0" "" "" "" "RP-068"
"00393326" "" "" "" "1" "" "00000" "{PMID:Ng 2021:33846575}" "" "F" "?" "China" "" "0" "" "" "" "RP-086"
"00393327" "" "" "" "1" "" "00000" "{PMID:Ng 2021:33846575}" "" "M" "?" "China" "" "0" "" "" "" "RP-087"
"00393328" "" "" "" "1" "" "00000" "{PMID:Ng 2021:33846575}" "" "F" "?" "China" "" "0" "" "" "" "RP-101"
"00393329" "" "" "" "1" "" "00000" "{PMID:Ng 2021:33846575}" "" "M" "?" "China" "" "0" "" "" "" "RP-119"
"00393452" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "M" "" "" "" "0" "" "" "" ""
"00393469" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "F" "yes" "" "" "0" "" "" "" ""
"00393488" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "F" "" "" "" "0" "" "" "" ""
"00393526" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "M" "" "" "" "0" "" "" "" ""
"00393527" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "F" "" "" "" "0" "" "" "" ""
"00393595" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "M" "" "" "" "0" "" "" "" ""
"00393613" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "M" "" "" "" "0" "" "" "" ""
"00393628" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "M" "" "" "" "0" "" "" "" ""
"00393650" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "F" "" "" "" "0" "" "" "" ""
"00393662" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "F" "" "" "" "0" "" "" "" ""
"00393663" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "F" "" "" "" "0" "" "" "" ""
"00393678" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "M" "" "" "" "0" "" "" "" ""
"00393682" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "F" "" "" "" "0" "" "" "" ""
"00393684" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "F" "" "" "" "0" "" "" "" ""
"00393685" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "F" "" "" "" "0" "" "" "" ""
"00393703" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "M" "" "" "" "0" "" "" "" ""
"00393704" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "M" "" "" "" "0" "" "" "" ""
"00393705" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "F" "" "" "" "0" "" "" "" ""
"00393726" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "F" "" "" "" "0" "" "" "" ""
"00393729" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "M" "" "" "" "0" "" "" "" ""
"00393731" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "F" "" "" "" "0" "" "" "" ""
"00393737" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "M" "" "" "" "0" "" "" "" ""
"00393753" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "F" "" "" "" "0" "" "" "" ""
"00393763" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "M" "" "" "" "0" "" "" "" ""
"00393765" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "M" "" "" "" "0" "" "" "" ""
"00393766" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "M" "" "" "" "0" "" "" "" ""
"00393777" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "M" "" "" "" "0" "" "" "" ""
"00393779" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "F" "" "" "" "0" "" "" "" ""
"00393784" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "M" "yes" "" "" "0" "" "" "" ""
"00393787" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "M" "" "" "" "0" "" "" "" ""
"00393804" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "M" "" "" "" "0" "" "" "" ""
"00393807" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "M" "" "" "" "0" "" "" "" ""
"00393817" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "M" "" "" "" "0" "" "" "" ""
"00393823" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "M" "" "" "" "0" "" "" "" ""
"00393835" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "M" "" "" "" "0" "" "" "" ""
"00393842" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "F" "" "" "" "0" "" "" "" ""
"00393867" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "F" "" "" "" "0" "" "" "" ""
"00393870" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "M" "" "" "" "0" "" "" "" ""
"00393877" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "M" "" "" "" "0" "" "" "" ""
"00393889" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "M" "" "" "" "0" "" "" "" ""
"00393892" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "M" "" "" "" "0" "" "" "" ""
"00393894" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "F" "" "" "" "0" "" "" "" ""
"00393895" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "M" "" "" "" "0" "" "" "" ""
"00393898" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "M" "" "" "" "0" "" "" "" ""
"00393899" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "F" "" "" "" "0" "" "" "" ""
"00393908" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "F" "" "" "" "0" "" "" "" ""
"00393911" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "M" "" "" "" "0" "" "" "" ""
"00393915" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "F" "" "" "" "0" "" "" "" ""
"00393999" "" "" "" "1" "" "00000" "{PMID:Salmaninejad-202:33173045}" "" "" "yes" "" "" "0" "" "" "Irani" ""
"00394003" "" "" "" "1" "" "00000" "{PMID:Salmaninejad-202:33173045}" "" "" "yes" "" "" "0" "" "" "Iranian" ""
"00394004" "" "" "" "1" "" "00000" "{PMID:Salmaninejad-202:33173045}" "" "" "yes" "" "" "0" "" "" "Iranian" ""
"00394336" "" "" "" "1" "" "00000" "{PMID:Thorsteinsson 2021:33851411}" "" "?" "" "Iceland" "" "0" "" "" "" "SD1"
"00394337" "" "" "" "1" "" "00000" "{PMID:Thorsteinsson 2021:33851411}" "" "?" "" "Iceland" "" "0" "" "" "" "SD2"
"00394338" "" "" "" "1" "" "00000" "{PMID:Thorsteinsson 2021:33851411}" "" "?" "" "Iceland" "" "0" "" "" "" "SD3"
"00394339" "" "" "" "1" "" "00000" "{PMID:Thorsteinsson 2021:33851411}" "" "?" "" "Iceland" "" "0" "" "" "" "SD4"
"00394340" "" "" "" "1" "" "00000" "{PMID:Thorsteinsson 2021:33851411}" "" "?" "" "Iceland" "" "0" "" "" "" "SD5"
"00394341" "" "" "" "1" "" "00000" "{PMID:Thorsteinsson 2021:33851411}" "" "?" "" "Iceland" "" "0" "" "" "" "SD6"
"00394342" "" "" "" "1" "" "00000" "{PMID:Thorsteinsson 2021:33851411}" "" "?" "" "Iceland" "" "0" "" "" "" "SD7"
"00394343" "" "" "" "1" "" "00000" "{PMID:Thorsteinsson 2021:33851411}" "" "?" "" "Iceland" "" "0" "" "" "" "SD8"
"00394344" "" "" "" "1" "" "00000" "{PMID:Thorsteinsson 2021:33851411}" "" "?" "" "Iceland" "" "0" "" "" "" "SD9"
"00394345" "" "" "" "1" "" "00000" "{PMID:Thorsteinsson 2021:33851411}" "" "?" "" "Iceland" "" "0" "" "" "" "SD10"
"00395210" "" "" "" "1" "" "00000" "{PMID:Buhler 2021:34073554}" "Family 1, individual II.2" "?" "" "Switzerland" "" "0" "" "" "" "1/II.2"
"00395211" "" "" "" "1" "" "00000" "{PMID:Buhler 2021:34073554}" "Family 2, individual II.1" "?" "" "Switzerland" "" "0" "" "" "" "2/II.1"
"00395212" "" "" "" "1" "" "00000" "{PMID:Buhler 2021:34073554}" "Family 3, individual II.2" "?" "" "Switzerland" "" "0" "" "" "" "3/II.2"
"00395213" "" "" "" "1" "" "00000" "{PMID:Buhler 2021:34073554}" "Family 4, individual II.2" "?" "" "Switzerland" "" "0" "" "" "" "4/II.2"
"00395214" "" "" "" "1" "" "00000" "{PMID:Buhler 2021:34073554}" "Family 5, individual II.2" "?" "" "Switzerland" "" "0" "" "" "" "5/II.2"
"00395215" "" "" "" "1" "" "00000" "{PMID:Buhler 2021:34073554}" "Family 6, individual II.2" "?" "" "Switzerland" "" "0" "" "" "" "6/II.2"
"00395216" "" "" "" "1" "" "00000" "{PMID:Buhler 2021:34073554}" "Family 7, individual II.1" "?" "" "Switzerland" "" "0" "" "" "" "7/II.1"
"00395217" "" "" "" "1" "" "00000" "{PMID:Buhler 2021:34073554}" "Family 8, individual III.2" "?" "" "Switzerland" "" "0" "" "" "" "8/III.2"
"00395218" "" "" "" "1" "" "00000" "{PMID:Buhler 2021:34073554}" "Family 9, individual II.2" "?" "" "Switzerland" "" "0" "" "" "" "9/II.2"
"00395219" "" "" "" "1" "" "00000" "{PMID:Buhler 2021:34073554}" "Family 10, individual I.2" "?" "" "Switzerland" "" "0" "" "" "" "10/I.2"
"00395220" "" "" "" "1" "" "00000" "{PMID:Buhler 2021:34073554}" "Family 11, individual III.1" "?" "" "Switzerland" "" "0" "" "" "" "11/III.1"
"00395431" "" "" "" "1" "" "00000" "{PMID:Sodi 2021:34240658}" "family F28, individual 29" "F" "" "Italy" "" "0" "" "" "" "29"
"00395432" "" "" "" "1" "" "00000" "{PMID:Sodi 2021:34240658}" "family F32, individual 33" "F" "" "Italy" "" "0" "" "" "" "33"
"00395433" "" "" "" "1" "" "00000" "{PMID:Sodi 2021:34240658}" "family F34, individual 35" "M" "" "Italy" "" "0" "" "" "" "35"
"00395748" "" "" "" "1" "" "00000" "{PMID:Chen 2021:43360855}" "" "?" "" "Taiwan" "" "0" "" "" "" "F119"
"00395749" "" "" "" "1" "" "00000" "{PMID:Chen 2021:43360855}" "" "?" "" "Taiwan" "" "0" "" "" "" "F266"
"00395770" "" "" "" "1" "" "00000" "{PMID:Chen 2021:43360855}" "" "?" "" "Taiwan" "" "0" "" "" "" "F183"
"00395772" "" "" "" "1" "" "00000" "{PMID:Chen 2021:43360855}" "" "?" "" "Taiwan" "" "0" "" "" "" "F213"
"00395775" "" "" "" "1" "" "00000" "{PMID:Chen 2021:43360855}" "" "?" "" "Taiwan" "" "0" "" "" "" "F196"
"00395780" "" "" "" "1" "" "00000" "{PMID:Chen 2021:43360855}" "" "?" "" "Taiwan" "" "0" "" "" "" "F067"
"00395781" "" "" "" "1" "" "00000" "{PMID:Chen 2021:43360855}" "" "?" "" "Taiwan" "" "0" "" "" "" "F275"
"00395785" "" "" "" "1" "" "00000" "{PMID:Chen 2021:43360855}" "" "?" "" "Taiwan" "" "0" "" "" "" "F173"
"00395788" "" "" "" "1" "" "00000" "{PMID:Chen 2021:43360855}" "" "?" "" "Taiwan" "" "0" "" "" "" "F226"
"00395790" "" "" "" "1" "" "00000" "{PMID:Chen 2021:43360855}" "" "?" "" "Taiwan" "" "0" "" "" "" "F102"
"00395798" "" "" "" "1" "" "00000" "{PMID:Chen 2021:43360855}" "" "?" "" "Taiwan" "" "0" "" "" "" "F218"
"00395800" "" "" "" "1" "" "00000" "{PMID:Chen 2021:43360855}" "" "?" "" "Taiwan" "" "0" "" "" "" "F115"
"00395801" "" "" "" "1" "" "00000" "{PMID:Chen 2021:43360855}" "" "?" "" "Taiwan" "" "0" "" "" "" "F267"
"00395802" "" "" "" "1" "" "00000" "{PMID:Chen 2021:43360855}" "" "?" "" "Taiwan" "" "0" "" "" "" "F091"
"00395803" "" "" "" "1" "" "00000" "{PMID:Chen 2021:43360855}" "" "?" "" "Taiwan" "" "0" "" "" "" "F108"
"00395804" "" "" "" "1" "" "00000" "{PMID:Chen 2021:43360855}" "" "?" "" "Taiwan" "" "0" "" "" "" "F243"
"00395819" "" "" "" "1" "" "00000" "{PMID:Chen 2021:43360855}" "" "?" "" "Taiwan" "" "0" "" "" "" "F042"
"00395820" "" "" "" "1" "" "00000" "{PMID:Chen 2021:43360855}" "" "?" "" "Taiwan" "" "0" "" "" "" "F056"
"00395821" "" "" "" "1" "" "00000" "{PMID:Chen 2021:43360855}" "" "?" "" "Taiwan" "" "0" "" "" "" "F138"
"00395822" "" "" "" "1" "" "00000" "{PMID:Chen 2021:43360855}" "" "?" "" "Taiwan" "" "0" "" "" "" "F007"
"00395823" "" "" "" "1" "" "00000" "{PMID:Chen 2021:43360855}" "" "?" "" "Taiwan" "" "0" "" "" "" "F044"
"00395824" "" "" "" "1" "" "00000" "{PMID:Chen 2021:43360855}" "" "?" "" "Taiwan" "" "0" "" "" "" "F028"
"00395825" "" "" "" "1" "" "00000" "{PMID:Chen 2021:43360855}" "" "?" "" "Taiwan" "" "0" "" "" "" "F280"
"00395826" "" "" "" "1" "" "00000" "{PMID:Chen 2021:43360855}" "" "?" "" "Taiwan" "" "0" "" "" "" "F008"
"00395831" "" "" "" "1" "" "00000" "{PMID:Chen 2021:43360855}" "" "?" "" "Taiwan" "" "0" "" "" "" "F117"
"00395844" "" "" "" "1" "" "00000" "{PMID:Chen 2021:43360855}" "" "?" "" "Taiwan" "" "0" "" "" "" "F151"
"00395902" "" "" "" "1" "" "00000" "{PMID:Chen 2021:43360855}" "" "?" "" "Taiwan" "" "0" "" "" "" "F054"
"00395911" "" "" "" "1" "" "00000" "{PMID:Chen 2021:43360855}" "" "?" "" "Taiwan" "" "0" "" "" "" "F206"
"00395921" "" "" "" "1" "" "00000" "{PMID:Chen 2021:43360855}" "" "?" "" "Taiwan" "" "0" "" "" "" "F127"
"00396411" "" "" "" "1" "" "00006" "{PMID:Ellingford 2016:26872967}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "12007903"
"00396412" "" "" "" "1" "" "00006" "{PMID:Ellingford 2016:26872967}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "065238"
"00396413" "" "" "" "1" "" "00006" "{PMID:Ellingford 2016:26872967}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "09006916"
"00396418" "" "" "" "1" "" "00006" "{PMID:Ellingford 2016:26872967}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "13012708"
"00396423" "" "" "" "1" "" "00006" "{PMID:Ellingford 2016:26872967}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "083869"
"00396427" "" "" "" "1" "" "00006" "{PMID:Ellingford 2016:26872967}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "09000190"
"00396474" "" "" "" "1" "" "00000" "{PMID:Dockery 2017:29099798}" "no patient numbers in the paper, consecutive numbers given" "?" "" "Ireland" "" "0" "" "" "" "7"
"00396475" "" "" "" "1" "" "00000" "{PMID:Dockery 2017:29099798}" "no patient numbers in the paper, consecutive numbers given" "?" "" "Ireland" "" "0" "" "" "" "8"
"00396478" "" "" "" "1" "" "00000" "{PMID:Dockery 2017:29099798}" "no patient numbers in the paper, consecutive numbers given" "?" "" "Ireland" "" "0" "" "" "" "11"
"00399878" "" "" "" "1" "" "00000" "{PMID:Fujinami 2013:24265018}" "" "?" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "5"
"00399879" "" "" "" "1" "" "00000" "{PMID:Fujinami 2013:24265018}" "unknown 2nd chromosome" "?" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "6"
"00399880" "" "" "" "1" "" "00000" "{PMID:Fujinami 2013:24265018}" "" "?" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "7"
"00399881" "" "" "" "1" "" "00000" "{PMID:Fujinami 2013:24265018}" "unknown 2nd chromosome" "?" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "8"
"00399882" "" "" "" "1" "" "00000" "{PMID:Fujinami 2013:24265018}" "" "?" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "9"
"00399883" "" "" "" "1" "" "00000" "{PMID:Fujinami 2013:24265018}" "unknown 2nd chromosome" "?" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "10"
"00399884" "" "" "" "1" "" "00000" "{PMID:Fujinami 2013:24265018}" "unknown 2nd chromosome" "?" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "11"
"00399885" "" "" "" "1" "" "00000" "{PMID:Fujinami 2013:24265018}" "" "?" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "19"
"00399886" "" "" "" "1" "" "00000" "{PMID:Fujinami 2013:24265018}" "unknown 2nd chromosome" "?" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "43"
"00399887" "" "" "" "1" "" "00000" "{PMID:Fujinami 2013:24265018}" "" "?" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "44"
"00399888" "" "" "" "1" "" "00000" "{PMID:Fujinami 2013:24265018}" "unknown 2nd chromosome" "?" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "45"
"00399889" "" "" "" "1" "" "00000" "{PMID:Fujinami 2013:24265018}" "" "?" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "46"
"00399890" "" "" "" "1" "" "00000" "{PMID:Fujinami 2013:24265018}" "" "?" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "47"
"00399891" "" "" "" "1" "" "00000" "{PMID:Fujinami 2013:24265018}" "" "?" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "48"
"00399892" "" "" "" "1" "" "00000" "{PMID:Fujinami 2013:24265018}" "unknown 2nd chromosome" "?" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "49"
"00399893" "" "" "" "1" "" "00000" "{PMID:Fujinami 2013:24265018}" "unknown 2nd chromosome" "?" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "51"
"00399894" "" "" "" "1" "" "00000" "{PMID:Fujinami 2013:24265018}" "unknown 2nd chromosome" "?" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "52"
"00399895" "" "" "" "1" "" "00000" "{PMID:Fujinami 2013:24265018}" "" "?" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "53"
"00399896" "" "" "" "1" "" "00000" "{PMID:Fujinami 2013:24265018}" "unknown 2nd chromosome" "?" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "54"
"00399897" "" "" "" "1" "" "00000" "{PMID:Fujinami 2013:24265018}" "" "?" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "55"
"00399898" "" "" "" "1" "" "00000" "{PMID:Fujinami 2013:24265018}" "" "?" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "59"
"00399899" "" "" "" "1" "" "00000" "{PMID:Fujinami 2013:24265018}" "" "?" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "60"
"00399900" "" "" "" "1" "" "00000" "{PMID:Fujinami 2013:24265018}" "" "?" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "67"
"00399901" "" "" "" "1" "" "00000" "{PMID:Fujinami 2013:24265018}" "unknown 2nd chromosome" "?" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "68"
"00399902" "" "" "" "1" "" "00000" "{PMID:Sangermano 2016:26976702}" "" "M" "?" "Netherlands" "" "0" "" "" "" "P1"
"00399903" "" "" "" "1" "" "00000" "{PMID:Sangermano 2016:26976702}" "" "M" "?" "Netherlands" "" "0" "" "" "" "P2"
"00399904" "" "" "" "1" "" "00000" "{PMID:Sangermano 2016:26976702}" "" "F" "?" "Netherlands" "" "0" "" "" "" "P3"
"00399905" "" "" "" "1" "" "00000" "{PMID:Sangermano 2016:26976702}" "" "M" "?" "Netherlands" "" "0" "" "" "" "P4"
"00399906" "" "" "" "1" "" "00000" "{PMID:Sangermano 2016:26976702}" "" "?" "?" "" "" "0" "" "" "" "P5"
"00399907" "" "" "" "1" "" "00000" "{PMID:Sangermano 2016:26976702}" "" "?" "?" "" "" "0" "" "" "" "P6"
"00399908" "" "" "" "1" "" "00000" "{PMID:Sangermano 2016:26976702}" "" "?" "?" "" "" "0" "" "" "" "P7"
"00399909" "" "" "" "1" "" "00000" "{PMID:Sangermano 2016:26976702}" "" "?" "?" "" "" "0" "" "" "" "P8"
"00399910" "" "" "" "1" "" "00000" "{PMID:Sangermano 2016:26976702}" "" "?" "?" "" "" "0" "" "" "" "P9"
"00399911" "" "" "" "1" "" "00000" "{PMID:Sangermano 2016:26976702}" "" "?" "?" "" "" "0" "" "" "" "P10"
"00399912" "" "" "" "1" "" "00000" "{PMID:Sangermano 2016:26976702}" "" "?" "?" "" "" "0" "" "" "" "P11"
"00399913" "" "" "" "1" "" "00000" "{PMID:Sangermano 2016:26976702}" "" "?" "?" "" "" "0" "" "" "" "P12"
"00399914" "" "" "" "1" "" "00000" "{PMID:Sangermano 2016:26976702}" "" "?" "?" "" "" "0" "" "" "" "P13"
"00399915" "" "" "" "1" "" "00000" "{PMID:Sangermano 2016:26976702}" "" "?" "?" "" "" "0" "" "" "" "P14"
"00399916" "" "" "" "1" "" "00000" "{PMID:Sangermano 2016:26976702}" "" "?" "?" "" "" "0" "" "" "" "P15"
"00399917" "" "" "" "1" "" "00000" "{PMID:Sangermano 2016:26976702}" "unknown 2nd chromosome" "?" "?" "" "" "0" "" "" "" "P16"
"00399918" "" "" "" "1" "" "00000" "{PMID:Sangermano 2016:26976702}" "unknown 2nd chromosome" "?" "?" "" "" "0" "" "" "" "P17"
"00399919" "" "" "" "1" "" "00000" "{PMID:Margalit 2003:14609928}" "The patient also has retinoblastoma in both eyes. Furthermore, the variants IVS33+48C>T, H423R and L1894L were also found." "M" "?" "United States" "" "0" "" "" "white" "?"
"00399920" "" "" "" "1" "" "00000" "{PMID:Bax 2019:31398255}" "unknown 2nd chromosome" "?" "?" "Netherlands" "" "0" "" "" "" "1"
"00399921" "" "" "" "1" "" "00000" "{PMID:Bax 2019:31398255}" "unknown 2nd chromosome" "?" "?" "Netherlands" "" "0" "" "" "" "2"
"00399922" "" "" "" "1" "" "00000" "{PMID:Bax 2019:31398255}" "unknown 2nd chromosome" "?" "?" "Netherlands" "" "0" "" "" "" "3"
"00399923" "" "" "" "1" "" "00000" "{PMID:Bax 2019:31398255}" "unknown 2nd chromosome" "?" "?" "Netherlands" "" "0" "" "" "" "4"
"00399924" "" "" "" "1" "" "00000" "{PMID:Bax 2019:31398255}" "" "?" "?" "Netherlands" "" "0" "" "" "" "5"
"00399925" "" "" "" "1" "" "00000" "{PMID:Bax 2019:31398255}" "unknown 2nd chromosome" "?" "?" "Netherlands" "" "0" "" "" "" "6"
"00399926" "" "" "" "1" "" "00000" "{PMID:Bax 2019:31398255}" "unknown 2nd chromosome" "?" "?" "Netherlands" "" "0" "" "" "" "7"
"00399927" "" "" "" "1" "" "00000" "{PMID:Bax 2019:31398255}" "" "?" "?" "Netherlands" "" "0" "" "" "" "8"
"00399928" "" "" "" "1" "" "00000" "{PMID:Bax 2019:31398255}" "unknown 2nd chromosome" "?" "?" "Netherlands" "" "0" "" "" "" "9"
"00399929" "" "" "" "1" "" "00000" "{PMID:Bax 2019:31398255}" "unknown 2nd chromosome" "?" "?" "Netherlands" "" "0" "" "" "" "10"
"00399930" "" "" "" "1" "" "00000" "{PMID:Bax 2019:31398255}" "unknown 2nd chromosome" "?" "?" "Netherlands" "" "0" "" "" "" "11"
"00399931" "" "" "" "1" "" "00000" "{PMID:Bax 2019:31398255}" "" "?" "?" "Netherlands" "" "0" "" "" "" "12"
"00399932" "" "" "" "1" "" "00000" "{PMID:Bax 2019:31398255}" "unknown 2nd chromosome" "?" "?" "Netherlands" "" "0" "" "" "" "13"
"00399933" "" "" "" "1" "" "00000" "{PMID:Bax 2019:31398255}" "unknown 2nd chromosome" "?" "?" "Netherlands" "" "0" "" "" "" "14"
"00399934" "" "" "" "1" "" "00000" "{PMID:Bax 2019:31398255}" "" "?" "?" "Netherlands" "" "0" "" "" "" "15"
"00399935" "" "" "" "1" "" "00000" "{PMID:Bax 2019:31398255}" "unknown 2nd chromosome" "?" "?" "Netherlands" "" "0" "" "" "" "16"
"00399936" "" "" "" "1" "" "00000" "{PMID:Bax 2019:31398255}" "unknown 2nd chromosome" "?" "?" "Netherlands" "" "0" "" "" "" "17"
"00399937" "" "" "" "1" "" "00000" "{PMID:Bax 2019:31398255}" "unknown 2nd chromosome" "?" "?" "Netherlands" "" "0" "" "" "" "18"
"00399938" "" "" "" "1" "" "00000" "{PMID:Bax 2019:31398255}" "" "?" "?" "Netherlands" "" "0" "" "" "" "19"
"00399939" "" "" "" "1" "" "00000" "{PMID:Bax 2019:31398255}" "" "?" "?" "Netherlands" "" "0" "" "" "" "20"
"00399940" "" "" "" "1" "" "00000" "{PMID:Müller 2020:33214501}" "" "F" "?" "Germany" "" "0" "" "" "" "1"
"00399941" "" "" "" "1" "" "00000" "{PMID:Müller 2020:33214501}" "" "F" "?" "Germany" "" "0" "" "" "" "2"
"00399942" "" "" "" "1" "" "00000" "{PMID:Müller 2020:33214501}" "" "F" "?" "Germany" "" "0" "" "" "" "3"
"00399943" "" "" "" "1" "" "00000" "{PMID:Müller 2020:33214501}" "unknown 2nd chromosome" "F" "?" "Germany" "" "0" "" "" "" "4"
"00399944" "" "" "" "1" "" "00000" "{PMID:Müller 2020:33214501}" "" "F" "?" "Germany" "" "0" "" "" "" "5"
"00399945" "" "" "" "1" "" "00000" "{PMID:Müller 2020:33214501}" "" "M" "?" "Germany" "" "0" "" "" "" "6"
"00399946" "" "" "" "1" "" "00000" "{PMID:Müller 2020:33214501}" "" "M" "?" "Germany" "" "0" "" "" "" "7"
"00399947" "" "" "" "1" "" "00000" "{PMID:Müller 2020:33214501}" "" "M" "?" "Germany" "" "0" "" "" "" "8"
"00399948" "" "" "" "1" "" "00000" "{PMID:Müller 2020:33214501}" "" "F" "?" "Germany" "" "0" "" "" "" "9"
"00399949" "" "" "" "1" "" "00000" "{PMID:Müller 2020:33214501}" "unknown 2nd chromosome" "M" "?" "Germany" "" "0" "" "" "" "10"
"00399950" "" "" "" "1" "" "00000" "{PMID:Müller 2020:33214501}" "" "F" "?" "Germany" "" "0" "" "" "" "11"
"00399951" "" "" "" "1" "" "00000" "{PMID:Müller 2020:33214501}" "" "F" "?" "Germany" "" "0" "" "" "" "12"
"00399952" "" "" "" "1" "" "00000" "{PMID:Müller 2020:33214501}" "" "M" "?" "Germany" "" "0" "" "" "" "13"
"00399953" "" "" "" "1" "" "00000" "{PMID:Müller 2020:33214501}" "unknown 2nd chromosome" "F" "?" "Germany" "" "0" "" "" "" "14"
"00399954" "" "" "" "1" "" "00000" "{PMID:Müller 2020:33214501}" "" "F" "?" "Germany" "" "0" "" "" "" "15"
"00399955" "" "" "" "1" "" "00000" "{PMID:Müller 2020:33214501}" "" "F" "?" "Germany" "" "0" "" "" "" "16"
"00399956" "" "" "" "1" "" "00000" "{PMID:Müller 2020:33214501}" "" "F" "?" "Germany" "" "0" "" "" "" "17"
"00399957" "" "" "" "1" "" "00000" "{PMID:Müller 2020:33214501}" "" "M" "?" "Germany" "" "0" "" "" "" "18"
"00399958" "" "" "" "1" "" "00000" "{PMID:Müller 2020:33214501}" "" "F" "?" "Germany" "" "0" "" "" "" "19"
"00399959" "" "" "" "1" "" "00000" "{PMID:Müller 2020:33214501}" "" "M" "?" "Germany" "" "0" "" "" "" "20"
"00399960" "" "" "" "1" "" "00000" "{PMID:Müller 2020:33214501}" "" "M" "?" "Germany" "" "0" "" "" "" "21"
"00399961" "" "" "" "1" "" "00000" "{PMID:Müller 2020:33214501}" "" "F" "?" "Germany" "" "0" "" "" "" "22"
"00399962" "" "" "" "1" "" "00000" "{PMID:Müller 2020:33214501}" "" "M" "?" "Germany" "" "0" "" "" "" "23"
"00399963" "" "" "" "1" "" "00000" "{PMID:Müller 2020:33214501}" "" "M" "?" "Germany" "" "0" "" "" "" "24"
"00399964" "" "" "" "1" "" "00000" "{PMID:Müller 2020:33214501}" "" "F" "?" "Germany" "" "0" "" "" "" "25"
"00399965" "" "" "" "1" "" "00000" "{PMID:Müller 2020:33214501}" "" "F" "?" "Germany" "" "0" "" "" "" "26"
"00399966" "" "" "" "1" "" "00000" "{PMID:Müller 2020:33214501}" "" "M" "?" "Germany" "" "0" "" "" "" "27"
"00399967" "" "" "" "1" "" "00000" "{PMID:Müller 2020:33214501}" "" "F" "?" "Germany" "" "0" "" "" "" "28"
"00399968" "" "" "" "1" "" "00000" "{PMID:Müller 2020:33214501}" "" "F" "?" "Germany" "" "0" "" "" "" "29"
"00399969" "" "" "" "1" "" "00000" "{PMID:Müller 2020:33214501}" "" "F" "?" "Germany" "" "0" "" "" "" "30"
"00399970" "" "" "" "1" "" "00000" "{PMID:Müller 2020:33214501}" "" "F" "?" "Germany" "" "0" "" "" "" "31"
"00399971" "" "" "" "1" "" "00000" "{PMID:Müller 2020:33214501}" "" "M" "?" "Germany" "" "0" "" "" "" "32"
"00399972" "" "" "" "1" "" "00000" "{PMID:Müller 2020:33214501}" "" "F" "?" "Germany" "" "0" "" "" "" "33"
"00399973" "" "" "" "1" "" "00000" "{PMID:Müller 2020:33214501}" "" "F" "?" "Germany" "" "0" "" "" "" "34"
"00399974" "" "" "" "1" "" "00000" "{PMID:Müller 2020:33214501}" "" "F" "?" "Germany" "" "0" "" "" "" "35"
"00399975" "" "" "" "1" "" "00000" "{PMID:Müller 2020:33214501}" "" "F" "?" "Germany" "" "0" "" "" "" "36"
"00399976" "" "" "" "1" "" "00000" "{PMID:Müller 2020:33214501}" "" "F" "?" "Germany" "" "0" "" "" "" "37"
"00399977" "" "" "" "1" "" "00000" "{PMID:Müller 2020:33214501}" "" "F" "?" "Germany" "" "0" "" "" "" "38"
"00399978" "" "" "" "1" "" "00000" "{PMID:Souied 2000:10634626}" "unknown 2nd chromosome" "?" "?" "" "" "0" "" "" "" "II.1,#39"
"00399979" "" "" "" "1" "" "00000" "{PMID:Souied 2000:10634626}" "unknown 2nd chromosome" "?" "?" "" "" "0" "" "" "" "II.2,#39"
"00399980" "" "" "" "1" "" "00000" "{PMID:Souied 2000:10634626}" "unknown 2nd chromosome" "?" "?" "" "" "0" "" "" "" "II.1,#18"
"00399981" "" "" "" "1" "" "00000" "{PMID:Souied 2000:10634626}" "unknown 2nd chromosome" "?" "?" "" "" "0" "" "" "" "II.2,#18"
"00399982" "" "" "" "3" "" "00000" "{PMID:Allikmets 2000:10880298}" "unknown 2nd chromosome" "?" "?" "United States" "" "0" "" "" "white" "?"
"00399983" "" "" "" "1" "" "00000" "{PMID:Allikmets 2000:10880298}" "unknown 2nd chromosome" "?" "?" "United States" "" "0" "" "" "white" "?"
"00399984" "" "" "" "3" "" "00000" "{PMID:Allikmets 2000:10880298}" "unknown 2nd chromosome" "?" "?" "United States" "" "0" "" "" "white" "?"
"00399985" "" "" "" "2" "" "00000" "{PMID:Allikmets 2000:10880298}" "unknown 2nd chromosome" "?" "?" "United States" "" "0" "" "" "white" "?"
"00399986" "" "" "" "1" "" "00000" "{PMID:Allikmets 2000:10880298}" "unknown 2nd chromosome" "?" "?" "Germany" "" "0" "" "" "" "?"
"00399987" "" "" "" "3" "" "00000" "{PMID:Allikmets 2000:10880298}" "unknown 2nd chromosome" "?" "?" "Germany" "" "0" "" "" "" "?"
"00399988" "" "" "" "1" "" "00000" "{PMID:Allikmets 2000:10880298}" "unknown 2nd chromosome" "?" "?" "Netherlands" "" "0" "" "" "" "?"
"00399989" "" "" "" "2" "" "00000" "{PMID:Allikmets 2000:10880298}" "unknown 2nd chromosome" "?" "?" "Italy" "" "0" "" "" "" "?"
"00399990" "" "" "" "1" "" "00000" "{PMID:Allikmets 2000:10880298}" "unknown 2nd chromosome" "?" "?" "Italy" "" "0" "" "" "" "?"
"00399991" "" "" "" "1" "" "00000" "{PMID:Allikmets 2000:10880298}" "unknown 2nd chromosome" "?" "?" "Sweden" "" "0" "" "" "" "?"
"00399992" "" "" "" "1" "" "00000" "{PMID:Allikmets 2000:10880298}" "unknown 2nd chromosome" "?" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "?"
"00399993" "" "" "" "8" "" "00000" "{PMID:Allikmets 2000:10880298}" "unknown 2nd chromosome" "?" "?" "United States" "" "0" "" "" "white" "?"
"00399994" "" "" "" "3" "" "00000" "{PMID:Allikmets 2000:10880298}" "unknown 2nd chromosome" "?" "?" "United States" "" "0" "" "" "white" "?"
"00399995" "" "" "" "2" "" "00000" "{PMID:Allikmets 2000:10880298}" "unknown 2nd chromosome" "?" "?" "Germany" "" "0" "" "" "" "?"
"00399996" "" "" "" "1" "" "00000" "{PMID:Allikmets 2000:10880298}" "unknown 2nd chromosome" "?" "?" "Germany" "" "0" "" "" "" "?"
"00399997" "" "" "" "1" "" "00000" "{PMID:Allikmets 2000:10880298}" "unknown 2nd chromosome" "?" "?" "Netherlands" "" "0" "" "" "" "?"
"00399998" "" "" "" "1" "" "00000" "{PMID:Allikmets 2000:10880298}" "unknown 2nd chromosome" "?" "?" "Spain" "" "0" "" "" "" "?"
"00399999" "" "" "" "1" "" "00000" "{PMID:Allikmets 2000:10880298}" "unknown 2nd chromosome" "?" "?" "Sweden" "" "0" "" "" "" "?"
"00400000" "" "" "" "1" "" "00000" "{PMID:Allikmets 2000:10880298}" "unknown 2nd chromosome" "?" "?" "Sweden" "" "0" "" "" "" "?"
"00400001" "" "" "" "1" "" "00000" "{PMID:Allikmets 2000:10880298}" "unknown 2nd chromosome" "?" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "?"
"00400002" "" "" "" "2" "" "00000" "{PMID:Allikmets 2000:10880298}" "unknown 2nd chromosome" "?" "?" "France" "" "0" "" "" "" "?"
"00400003" "" "" "" "1" "" "00000" "{PMID:Fuse 2000:10913642}" "unknown 2nd chromosome" "?" "?" "Japan" "" "0" "" "" "Japanese" "?"
"00400004" "" "" "" "2" "" "00000" "{PMID:Fuse 2000:10913642}" "unknown 2nd chromosome" "?" "?" "Japan" "" "0" "" "" "Japanese" "?"
"00400005" "" "" "" "1" "" "00000" "{PMID:Fuse 2000:10913642}" "unknown 2nd chromosome" "?" "?" "Japan" "" "0" "" "" "Japanese" "?"
"00400006" "" "" "" "1" "" "00000" "{PMID:Fuse 2000:10913642}" "" "?" "?" "Japan" "" "0" "" "" "Japanese" "?"
"00400007" "" "" "" "2" "" "00000" "{PMID:Bernstein 2002:11818392}" "unknown 2nd chromosome" "?" "?" "United States" "" "0" "" "" "" "?"
"00400008" "" "" "" "1" "" "00000" "{PMID:Bernstein 2002:11818392}" "unknown 2nd chromosome" "?" "?" "United States" "" "0" "" "" "" "?"
"00400009" "" "" "" "1" "" "00000" "{PMID:Bernstein 2002:11818392}" "unknown 2nd chromosome" "?" "?" "United States" "" "0" "" "" "" "?"
"00400010" "" "" "" "1" "" "00000" "{PMID:Bernstein 2002:11818392}" "unknown 2nd chromosome" "?" "?" "United States" "" "0" "" "" "" "?"
"00400011" "" "" "" "2" "" "00000" "{PMID:Bernstein 2002:11818392}" "unknown 2nd chromosome" "?" "?" "United States" "" "0" "" "" "" "?"
"00400012" "" "" "" "1" "" "00000" "{PMID:Bernstein 2002:11818392}" "unknown 2nd chromosome" "?" "?" "United States" "" "0" "" "" "" "?"
"00400013" "" "" "" "1" "" "00000" "{PMID:Bernstein 2002:11818392}" "unknown 2nd chromosome" "?" "?" "United States" "" "0" "" "" "" "?"
"00400014" "" "" "" "1" "" "00000" "{PMID:Bernstein 2002:11818392}" "unknown 2nd chromosome" "?" "?" "United States" "" "0" "" "" "" "?"
"00400015" "" "" "" "6" "" "00000" "{PMID:Bernstein 2002:11818392}" "unknown 2nd chromosome" "?" "?" "United States" "" "0" "" "" "" "?"
"00400016" "" "" "" "1" "" "00000" "{PMID:Bernstein 2002:11818392}" "unknown 2nd chromosome" "?" "?" "United States" "" "0" "" "" "" "?"
"00400017" "" "" "" "1" "" "00000" "{PMID:Bernstein 2002:11818392}" "unknown 2nd chromosome" "?" "?" "United States" "" "0" "" "" "" "?"
"00400018" "" "" "" "7" "" "00000" "{PMID:Bernstein 2002:11818392}" "unknown 2nd chromosome" "?" "?" "United States" "" "0" "" "" "" "?"
"00400019" "" "" "" "1" "" "00000" "{PMID:Bernstein 2002:11818392}" "unknown 2nd chromosome" "?" "?" "United States" "" "0" "" "" "" "?"
"00400020" "" "" "" "1" "" "00000" "{PMID:Fritsche 2012:22427542}" "The genotypes for the CFH rs1061170, ARMS2 rs10490924 and C3 rs2230199 locations were T/C, G/G, C/G respectively. Unknown 2nd chromosome." "F" "?" "Germany" "" "0" "" "" "" "H-053-GA"
"00400021" "" "" "" "1" "" "00000" "{PMID:Fritsche 2012:22427542}" "The genotypes for the CFH rs1061170, ARMS2 rs10490924 and C3 rs2230199 locations were T/T, G/T, C/C respectively." "F" "?" "Germany" "" "0" "" "" "" "L-099-GA"
"00400022" "" "" "" "1" "" "00000" "{PMID:Fritsche 2012:22427542}" "The genotypes for the CFH rs1061170, ARMS2 rs10490924 and C3 rs2230199 locations were T/T, T/T, C/C respectively." "M" "?" "Germany" "" "0" "" "" "" "H-144-GA"
"00400023" "" "" "" "1" "" "00000" "{PMID:Fritsche 2012:22427542}" "The genotypes for the CFH rs1061170, ARMS2 rs10490924 and C3 rs2230199 locations were T/T, G/G, C/C respectively. Unknown 2nd chromosome." "M" "?" "Germany" "" "0" "" "" "" "M07-0338-11085"
"00400024" "" "" "" "1" "" "00000" "{PMID:Fritsche 2012:22427542}" "The genotypes for the CFH rs1061170, ARMS2 rs10490924 and C3 rs2230199 locations were T/T, G/G, C/C respectively. Unknown 2nd chromosome." "F" "?" "Germany" "" "0" "" "" "" "M07-0372-11232"
"00400025" "" "" "" "1" "" "00000" "{PMID:Fritsche 2012:22427542}" "The genotypes for the CFH rs1061170, ARMS2 rs10490924 and C3 rs2230199 locations were T/C, T/T, C/C respectively. Unknown 2nd chromosome." "M" "?" "Germany" "" "0" "" "" "" "Wü-AMD-0420"
"00400026" "" "" "" "1" "" "00000" "{PMID:Fritsche 2012:22427542}" "The genotypes for the CFH rs1061170, ARMS2 rs10490924 and C3 rs2230199 locations were T/C, G/G, C/C respectively. Unknown 2nd chromosome." "M" "?" "Germany" "" "0" "" "" "" "H-142-GA"
"00400027" "" "" "" "1" "" "00000" "{PMID:Fritsche 2012:22427542}" "The genotypes for the CFH rs1061170, ARMS2 rs10490924 and C3 rs2230199 locations were T/C, G/G, C/C respectively. Unknown 2nd chromosome." "F" "?" "Germany" "" "0" "" "" "" "L-100-GA"
"00400028" "" "" "" "1" "" "00000" "{PMID:Fritsche 2012:22427542}" "The genotypes for the CFH rs1061170, ARMS2 rs10490924 and C3 rs2230199 locations were T/C, G/G, C/C respectively. Unknown 2nd chromosome. Unknown 2nd chromosome." "F" "?" "Germany" "" "0" "" "" "" "Wü-AMD-0569"
"00400029" "" "" "" "1" "" "00000" "{PMID:Fritsche 2012:22427542}" "The genotypes for the CFH rs1061170, ARMS2 rs10490924 and C3 rs2230199 locations were T/T, G/T, C/G respectively. Unknown 2nd chromosome." "F" "?" "Germany" "" "0" "" "" "" "Wü-AMD-0244"
"00400030" "" "" "" "1" "" "00000" "{PMID:Fritsche 2012:22427542}" "The genotypes for the CFH rs1061170, ARMS2 rs10490924 and C3 rs2230199 locations were T/T, G/G, C/C respectively. Unknown 2nd chromosome." "F" "?" "Germany" "" "0" "" "" "" "M-013-GA"
"00400031" "" "" "" "1" "" "00000" "{PMID:Fritsche 2012:22427542}" "The genotypes for the CFH rs1061170, ARMS2 rs10490924 and C3 rs2230199 locations were T/T, G/G, C/G respectively. Unknown 2nd chromosome." "F" "?" "Germany" "" "0" "" "" "" "GPS-1"
"00400032" "" "" "" "1" "" "00000" "{PMID:Fritsche 2012:22427542}" "The genotypes for the CFH rs1061170, ARMS2 rs10490924 and C3 rs2230199 locations were T/C, G/G, C/C respectively. Unknown 2nd chromosome." "F" "?" "Germany" "" "0" "" "" "" "GPS-2"
"00400033" "" "" "" "1" "" "00000" "{PMID:Fritsche 2012:22427542}" "The genotypes for the CFH rs1061170, ARMS2 rs10490924 and C3 rs2230199 locations were T/T, G/G, C/C respectively." "M" "?" "Germany" "" "0" "" "" "" "GPS-3"
"00400034" "" "" "" "1" "" "00000" "{PMID:Fritsche 2012:22427542}" "The genotypes for the CFH rs1061170, ARMS2 rs10490924 and C3 rs2230199 locations were T/T, G/T, C/G respectively. Unknown 2nd chromosome." "M" "?" "Germany" "" "0" "" "" "" "GPS-4"
"00400035" "" "" "" "1" "" "00000" "{PMID:Fritsche 2012:22427542}" "The genotypes for the CFH rs1061170, ARMS2 rs10490924 and C3 rs2230199 locations were T/C, G/T, C/C respectively. Unknown 2nd chromosome." "M" "?" "Germany" "" "0" "" "" "" "GPS-8"
"00400036" "" "" "" "1" "" "00000" "{PMID:Fritsche 2012:22427542}" "The genotypes for the CFH rs1061170, ARMS2 rs10490924 and C3 rs2230199 locations were T/C, G/G, C/C respectively. Unknown 2nd chromosome." "M" "?" "Germany" "" "0" "" "" "" "GPS-9"
"00400037" "" "" "" "1" "" "00000" "{PMID:Fritsche 2012:22427542}" "The genotypes for the CFH rs1061170, ARMS2 rs10490924 and C3 rs2230199 locations were C/C, T/T, C/G respectively. Unknown 2nd chromosome." "F" "?" "Germany" "" "0" "" "" "" "H-193-GA"
"00400038" "" "" "" "1" "" "00000" "{PMID:Fritsche 2012:22427542}" "The genotypes for the CFH rs1061170, ARMS2 rs10490924 and C3 rs2230199 locations were C/C, T/T, C/C respectively. Unknown 2nd chromosome." "F" "?" "Germany" "" "0" "" "" "" "H-015-GA"
"00400039" "" "" "" "1" "" "00000" "{PMID:Fritsche 2012:22427542}" "The genotypes for the CFH rs1061170, ARMS2 rs10490924 and C3 rs2230199 locations were C/C, G/T, C/G respectively." "F" "?" "Germany" "" "0" "" "" "" "H-073-GA"
"00400040" "" "" "" "1" "" "00000" "{PMID:Fritsche 2012:22427542}" "The genotypes for the CFH rs1061170, ARMS2 rs10490924 and C3 rs2230199 locations were C/C, G/G, C/G respectively. Unknown 2nd chromosome." "M" "?" "Germany" "" "0" "" "" "" "L-103-GA"
"00400041" "" "" "" "1" "" "00000" "{PMID:Fritsche 2012:22427542}" "The genotypes for the CFH rs1061170, ARMS2 rs10490924 and C3 rs2230199 locations were T/C, G/G, C/C respectively." "F" "?" "Germany" "" "0" "" "" "" "G03-1814"
"00400042" "" "" "" "1" "" "00000" "{PMID:Fritsche 2012:22427542}" "The genotypes for the CFH rs1061170, ARMS2 rs10490924 and C3 rs2230199 locations were T/T, T/T, C/C respectively." "F" "?" "Germany" "" "0" "" "" "" "G03-2346"
"00400043" "" "" "" "1" "" "00000" "{PMID:Fritsche 2012:22427542}" "The genotypes for the CFH rs1061170, ARMS2 rs10490924 and C3 rs2230199 locations were T/C, G/T, C/C respectively." "F" "?" "Germany" "" "0" "" "" "" "G03-3217"
"00400044" "" "" "" "1" "" "00000" "{PMID:Fritsche 2012:22427542}" "The genotypes for the CFH rs1061170, ARMS2 rs10490924 and C3 rs2230199 locations were T/C, G/T, C/C respectively." "F" "?" "Germany" "" "0" "" "" "" "G03-3537"
"00400045" "" "" "" "1" "" "00000" "{PMID:Fritsche 2012:22427542}" "The genotypes for the CFH rs1061170, ARMS2 rs10490924 and C3 rs2230199 locations were T/T, T/T, C/C respectively." "F" "?" "Germany" "" "0" "" "" "" "G03-3687"
"00400046" "" "" "" "1" "" "00000" "{PMID:Fritsche 2012:22427542}" "The genotypes for the CFH rs1061170, ARMS2 rs10490924 and C3 rs2230199 locations were T/T, G/G, C/C respectively." "F" "?" "Germany" "" "0" "" "" "" "G04-0860"
"00400047" "" "" "" "1" "" "00000" "{PMID:Fritsche 2012:22427542}" "The genotypes for the CFH rs1061170, ARMS2 rs10490924 and C3 rs2230199 locations were T/T, G/T, C/C respectively. Unknown 2nd chromosome." "M" "?" "Germany" "" "0" "" "" "" "G04-1886"
"00400048" "" "" "" "1" "" "00000" "{PMID:Fritsche 2012:22427542}" "The genotypes for the CFH rs1061170, ARMS2 rs10490924 and C3 rs2230199 locations were T/C, G/T, C/C respectively." "M" "?" "Germany" "" "0" "" "" "" "G04-2403"
"00400049" "" "" "" "1" "" "00000" "{PMID:Fritsche 2012:22427542}" "The genotypes for the CFH rs1061170, ARMS2 rs10490924 and C3 rs2230199 locations were T/C, G/G, C/C respectively. Unknown 2nd chromosome." "F" "?" "Germany" "" "0" "" "" "" "G05-0022"
"00400050" "" "" "" "1" "" "00000" "{PMID:Fritsche 2012:22427542}" "The genotypes for the CFH rs1061170, ARMS2 rs10490924 and C3 rs2230199 locations were T/T, G/G, C/G respectively. Unknown 2nd chromosome." "M" "?" "Germany" "" "0" "" "" "" "G05-1365"
"00400051" "" "" "" "1" "" "00000" "{PMID:Fritsche 2012:22427542}" "The genotypes for the CFH rs1061170, ARMS2 rs10490924 and C3 rs2230199 locations were T/C, G/G, C/G respectively." "F" "?" "Germany" "" "0" "" "" "" "M05-0025"
"00400052" "" "" "" "1" "" "00000" "{PMID:Fritsche 2012:22427542}" "The genotypes for the CFH rs1061170, ARMS2 rs10490924 and C3 rs2230199 locations were T/C, G/G, C/C respectively. Unknown 2nd chromosome." "F" "?" "Germany" "" "0" "" "" "" "M06-0012"
"00400053" "" "" "" "1" "" "00000" "{PMID:Fritsche 2012:22427542}" "The genotypes for the CFH rs1061170, ARMS2 rs10490924 and C3 rs2230199 locations were T/C, G/T, C/G respectively." "F" "?" "Germany" "" "0" "" "" "" "M06-0159"
"00406003" "" "" "" "1" "" "00000" "{PMID:Wolfson-2015:26312378}" "" "" "" "(United States)" "" "0" "" "" "" "Twin 1"
"00406004" "" "" "" "1" "" "00000" "{PMID:Wolfson-2015:26312378}" "" "" "" "(United States)" "" "0" "" "" "" "Twin 2"
"00408087" "" "" "" "1" "" "00000" "{PMID:Alabdullatif 2017:27717089}" "" "F" "yes" "United Arab Emirates" "" "0" "" "" "" "82"
"00408437" "" "" "" "1" "" "00000" "{PMID:Avela 2019:31087526}" "" "?" "" "Finland" "" "0" "" "" "" "25"
"00408664" "" "" "" "1" "" "04300" "" "" "" "" "Mexico" "" "" "" "" "" ""
"00408665" "" "" "" "1" "" "04300" "" "" "F" "" "Mexico" "" "" "" "" "" ""
"00408666" "" "" "" "1" "" "04300" "" "" "F" "" "Mexico" "" "" "" "" "" ""
"00408667" "" "" "" "1" "" "04300" "" "" "F" "" "Mexico" "" "" "" "" "" ""
"00408668" "" "" "" "1" "" "04300" "" "" "" "" "Mexico" "" "" "" "" "" ""
"00408669" "" "" "" "1" "" "04300" "" "" "" "" "Mexico" "" "" "" "" "" ""
"00408699" "" "" "" "1" "" "04300" "" "" "" "" "Mexico" "" "" "" "" "" ""
"00408707" "" "" "" "1" "" "04300" "" "" "" "" "Mexico" "" "" "" "" "" ""
"00408708" "" "" "" "1" "" "04300" "" "" "" "" "Mexico" "" "" "" "" "" ""
"00408709" "" "" "" "1" "" "04300" "" "" "-" "" "Mexico" "" "" "" "" "" ""
"00408710" "" "" "" "1" "" "04300" "" "" "" "" "Mexico" "" "" "" "" "" ""
"00408714" "" "" "" "1" "" "04300" "" "" "" "" "Mexico" "" "" "" "" "" ""
"00408715" "" "" "" "1" "" "04300" "" "" "" "" "Mexico" "" "" "" "" "" ""
"00408716" "" "" "" "1" "" "04300" "" "" "" "" "Mexico" "" "" "" "" "" ""
"00408717" "" "" "" "1" "" "04300" "" "" "" "" "Mexico" "" "" "" "" "" ""
"00408783" "" "" "" "1" "" "04300" "" "" "" "" "Mexico" "" "" "" "" "" ""
"00408784" "" "" "" "1" "" "04300" "" "" "" "" "Mexico" "" "" "" "" "" ""
"00408785" "" "" "" "1" "" "04300" "" "" "" "" "Mexico" "" "" "" "" "" ""
"00408787" "" "" "" "1" "" "04300" "" "" "" "" "Mexico" "" "" "" "" "" ""
"00408788" "" "" "" "1" "" "04300" "" "" "" "" "Mexico" "" "" "" "" "" ""
"00408789" "" "" "" "1" "" "04300" "" "" "" "" "Mexico" "" "" "" "" "" ""
"00408790" "" "" "" "1" "" "04300" "" "" "" "" "Mexico" "" "" "" "" "" ""
"00408791" "" "" "" "1" "" "04300" "" "" "" "" "Mexico" "" "" "" "" "" ""
"00410411" "" "" "" "1" "" "00000" "{PMID:Vallim-Salles 2017:28095140}" "" "M" "" "" "" "0" "" "" "" "3"
"00411020" "" "" "" "1" "" "00000" "{PMID:Termuhlen 2016:27573156}" "" "M" "" "" "" "0" "" "" "" ""
"00411327" "" "" "" "2" "" "04333" "{PMID:Sharon 2020:31456290}, {PMID:Ben Yosef 2023:37287645}" "family, 2 affected" "F" "no" "Israel" "" "0" "" "" "Ethiopia;Jew" "Fam1"
"00411328" "" "" "" "1" "" "04333" "{PMID:Sharon 2020:31456290}, {PMID:Ben Yosef 2023:37287645}" "family, 1 affected" "F" "no" "Israel" "" "0" "" "" "Ethiopia;Jew" "Fam2"
"00411329" "" "" "" "1" "" "04333" "{PMID:Sharon 2020:31456290}, {PMID:Ben Yosef 2023:37287645}" "family, 1 affected" "" "" "Israel" "" "0" "" "" "" "Fam3"
"00411330" "" "" "" "1" "" "04333" "{PMID:Ben Yosef 2023:37287645}" "family, 1 affected" "M" "no" "Israel" "" "0" "" "" "Ethiopia;Jew" "Fam4"
"00411331" "" "" "" "1" "" "04333" "{PMID:Ben Yosef 2023:37287645}" "family, 1 affected" "F" "no" "Israel" "" "0" "" "" "Ethiopia;Jew" "Fam5"
"00411332" "" "" "" "1" "" "04333" "{PMID:Sharon 2020:31456290}, {PMID:Ben Yosef 2023:37287645}" "family, 1 affected" "" "no" "Israel" "" "0" "" "" "Ethiopia;Jew" "Fam6"
"00411333" "" "" "" "2" "" "04333" "{PMID:Sharon 2020:31456290}, {PMID:Ben Yosef 2023:37287645}" "family, 2 affected" "F" "no" "Israel" "" "0" "" "" "Ethiopia;Jew" "Fam7"
"00411334" "" "" "" "3" "" "04333" "{PMID:Sharon 2020:31456290}, {PMID:Ben Yosef 2023:37287645}" "family, 3 affected (mother/son/daughter)" "F" "no" "Israel" "" "0" "" "" "Ethiopia;Jew" "Fam8Pat1"
"00411335" "" "" "" "1" "" "04333" "{PMID:Ben Yosef 2023:37287645}" "family, 1 affected" "M" "no" "Israel" "" "0" "" "" "Ethiopia;Jew" "Fam9"
"00411336" "" "" "" "1" "" "04333" "{PMID:Ben Yosef 2023:37287645}" "family, 1 affected" "F" "no" "Israel" "" "0" "" "" "Ethiopia;Jew" "Fam10"
"00411337" "" "" "" "1" "" "04333" "{PMID:Ben Yosef 2023:37287645}" "family, 1 affected" "F" "no" "Israel" "" "0" "" "" "" "Fam11"
"00411354" "" "" "00411334" "1" "" "04333" "{PMID:Sharon 2020:31456290}, {PMID:Ben Yosef 2023:37287645}" "son" "M" "no" "Israel" "" "0" "" "" "Ethiopia;Jew" "Fam8Pat2"
"00411355" "" "" "00411334" "1" "" "04333" "{PMID:Sharon 2020:31456290}, {PMID:Ben Yosef 2023:37287645}" "daughter" "F" "no" "Israel" "" "0" "" "" "Ethiopia;Jew" "Fam8Pat3"
"00411358" "" "" "" "1" "" "04333" "{PMID:Ben Yosef 2023:37287645}" "family, 1 affected" "F" "no" "Israel" "" "0" "" "" "Ethiopia;Jew" "Fam23"
"00414436" "" "" "" "1" "" "00000" "{PMID:Sun 2018:30076350}" "" "M" "" "China" "" "0" "" "" "" "WHP103"
"00419563" "" "" "" "1" "" "02300" "{PMID:Marinakis 2021:34008892}" "" "M" "" "Greece" "" "0" "" "" "" "20073"
"00419685" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2022:36259723}, {DOI:Hitti-Malin 2022:10.1002/humu.24489}" "" "F" "" "" "" "0" "" "" "" "070560"
"00419686" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2022:36259723}, {DOI:Hitti-Malin 2022:10.1002/humu.24489}" "" "M" "" "" "" "0" "" "" "" "070674"
"00419687" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2022:36259723}, {DOI:Hitti-Malin 2022:10.1002/humu.24489}" "" "F" "" "" "" "0" "" "" "" "070901"
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"00422670" "" "" "" "1" "" "04206" "{PMID:Tian 2024:37774808}" "" "M" "" "China" "" "0" "" "" "" ""
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"00422673" "" "" "" "1" "" "04206" "{PMID:Tian 2024:37774808}" "" "F" "" "China" "" "0" "" "" "" ""
"00422674" "" "" "" "1" "" "04206" "{PMID:Tian 2024:37774808}" "" "M" "" "China" "" "0" "" "" "" ""
"00423335" "" "" "" "1" "" "00000" "{PMID:Tracewska 2019:31766579}{PMID:Khan 2020:32307445}" "" "M" "" "Poland" "" "0" "" "" "" "266; 71232"
"00423336" "" "" "" "1" "" "00000" "{PMID:Del Pozo-Valero 2020:32619608}{PMID:Khan 2020:32307445}" "" "F" "" "Spain" "" "0" "" "" "" "MD-0853; 71285"
"00423337" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}{PMID:Del Pozo-Valero 2020:32619608}" "" "F" "" "Spain" "" "0" "" "" "" "65478; MD-0621"
"00423338" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}{PMID:Del Pozo-Valero 2020:32619608}" "" "F" "" "Spain" "" "0" "" "" "" "65785; MD-0162"
"00423339" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}{PMID:Del Pozo-Valero 2020:32619608}" "" "F" "" "Spain" "" "0" "" "" "" "68290;MD-0568"
"00423340" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}{PMID:Del Pozo-Valero 2020:32619608}" "" "F" "" "Spain" "" "0" "" "" "" "70697;MD-0166"
"00423341" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}{PMID:Del Pozo-Valero 2020:32619608}" "" "M" "" "Spain" "" "0" "" "" "" "70699; MD-1002"
"00423342" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}{PMID:Del Pozo-Valero 2020:32619608}" "" "M" "" "Spain" "" "0" "" "" "" "70706; MD-0826"
"00423343" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}{PMID:Del Pozo-Valero 2020:32619608}" "" "M" "" "Spain" "" "0" "" "" "" "70709;MD-0895"
"00423344" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}{PMID:Del Pozo-Valero 2020:32619608}" "" "M" "" "Spain" "" "0" "" "" "" "71283;MD-0763"
"00423345" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}{PMID:Del Pozo-Valero 2020:32619608}" "" "F" "" "Spain" "" "0" "" "" "" "71291; MD-0985"
"00423346" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}{PMID:Del Pozo-Valero 2020:32619608}" "" "F" "" "Spain" "" "0" "" "" "" "71295;MD-1215"
"00423347" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}{PMID:Del Pozo-Valero 2020:32619608}" "" "F" "" "Spain" "" "0" "" "" "" "71299; MD-1256"
"00423348" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "F" "" "Netherlands" "" "0" "" "" "" "10589"
"00423349" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "F" "" "" "" "0" "" "" "" "11600"
"00423350" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "M" "" "" "" "0" "" "" "" "16586"
"00423351" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "M" "" "Spain" "" "0" "" "" "" "65670"
"00423352" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "F" "" "Germany" "" "0" "" "" "" "66828"
"00423353" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "F" "" "France" "" "0" "" "" "" "67116"
"00423354" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "F" "" "France" "" "0" "" "" "" "67141"
"00423355" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "M" "" "France" "" "0" "" "" "" "67208"
"00423356" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "M" "" "Spain" "" "0" "" "" "" "68238"
"00423357" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "M" "" "Netherlands" "" "0" "" "" "" "70159"
"00423358" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "F" "" "Israel" "" "0" "" "" "" "70223"
"00423359" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "F" "" "Israel" "" "0" "" "" "" "70225"
"00423360" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "M" "" "Israel" "" "0" "" "" "" "70229"
"00423361" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "M" "" "Israel" "" "0" "" "" "" "70231"
"00423362" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "F" "" "Israel" "" "0" "" "" "" "70233"
"00423363" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "M" "" "Israel" "" "0" "" "" "" "70234"
"00423364" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "F" "" "Israel" "" "0" "" "" "" "70236"
"00423365" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "F" "" "Italy" "" "0" "" "" "" "70506"
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"00423488" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "F" "" "South Africa" "" "0" "" "" "" "70671"
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"00423495" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "F" "" "South Africa" "" "0" "" "" "" "70681"
"00423496" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "M" "" "South Africa" "" "0" "" "" "" "70682"
"00423497" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "M" "" "South Africa" "" "0" "" "" "" "70683"
"00423498" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "F" "" "South Africa" "" "0" "" "" "" "70684"
"00423499" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "F" "" "South Africa" "" "0" "" "" "" "70685"
"00423500" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "M" "" "South Africa" "" "0" "" "" "" "70686"
"00423501" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "M" "" "South Africa" "" "0" "" "" "" "70687"
"00423502" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "F" "" "South Africa" "" "0" "" "" "" "70688"
"00423503" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "M" "" "South Africa" "" "0" "" "" "" "70689"
"00423504" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "F" "" "South Africa" "" "0" "" "" "" "70690"
"00423505" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "M" "" "South Africa" "" "0" "" "" "" "70691"
"00423506" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "F" "" "South Africa" "" "0" "" "" "" "70692"
"00423507" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "F" "" "South Africa" "" "0" "" "" "" "70693"
"00423508" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "M" "" "South Africa" "" "0" "" "" "" "70694"
"00423509" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "M" "" "South Africa" "" "0" "" "" "" "70695"
"00423510" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "F" "" "South Africa" "" "0" "" "" "" "70696"
"00423511" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}{PMID:Del Pozo-Valero 2020:32619608}" "" "M" "" "Spain" "" "0" "" "" "" "70698; MD-0967"
"00423512" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "F" "" "Spain" "" "0" "" "" "" "70700"
"00423513" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}{PMID:Del Pozo-Valero 2020:32619608}" "" "M" "" "Spain" "" "0" "" "" "" "70702; MD-0065"
"00423514" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "M" "" "Spain" "" "0" "" "" "" "70703"
"00423515" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "F" "" "Spain" "" "0" "" "" "" "70704"
"00423516" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "M" "" "Spain" "" "0" "" "" "" "70705"
"00423517" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "F" "" "Spain" "" "0" "" "" "" "70707"
"00423518" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}{PMID:Del Pozo-Valero 2020:32619608}" "" "M" "" "Spain" "" "0" "" "" "" "70708; MD-0852"
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"00423520" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "M" "" "Spain" "" "0" "" "" "" "70712"
"00423521" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "F" "" "Italy" "" "0" "" "" "" "70715"
"00423522" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "M" "" "Italy" "" "0" "" "" "" "70716"
"00423523" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "F" "" "Italy" "" "0" "" "" "" "70717"
"00423524" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "M" "" "Italy" "" "0" "" "" "" "70718"
"00423525" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "M" "" "Czech Republic" "" "0" "" "" "" "70725"
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"00423691" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "F" "" "Slovenia" "" "0" "" "" "" "71114"
"00423692" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "F" "" "Slovenia" "" "0" "" "" "" "71115"
"00423693" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "F" "" "Slovenia" "" "0" "" "" "" "71116"
"00423694" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "M" "" "Slovenia" "" "0" "" "" "" "71117"
"00423695" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "M" "" "Slovenia" "" "0" "" "" "" "71118"
"00423696" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "M" "" "Slovenia" "" "0" "" "" "" "71119"
"00423697" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "F" "" "Slovenia" "" "0" "" "" "" "71120"
"00423698" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "F" "" "Slovenia" "" "0" "" "" "" "71121"
"00423699" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "F" "" "Slovenia" "" "0" "" "" "" "71122"
"00423700" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "M" "" "United States" "" "0" "" "" "" "71205"
"00423701" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "F" "" "United States" "" "0" "" "" "" "71206"
"00423702" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "M" "" "United States" "" "0" "" "" "" "71207"
"00423703" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "M" "" "United States" "" "0" "" "" "" "71209"
"00423704" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "F" "" "United States" "" "0" "" "" "" "71210"
"00423705" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "M" "" "United States" "" "0" "" "" "" "71211"
"00423706" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "M" "" "United States" "" "0" "" "" "" "71213"
"00423707" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "M" "" "United States" "" "0" "" "" "" "71214"
"00423708" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "M" "" "United States" "" "0" "" "" "" "71218"
"00423709" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "F" "" "United States" "" "0" "" "" "" "71219"
"00423710" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "F" "" "United States" "" "0" "" "" "" "71220"
"00423711" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "F" "" "United States" "" "0" "" "" "" "71221"
"00423712" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "F" "" "United States" "" "0" "" "" "" "71222"
"00423713" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "F" "" "United States" "" "0" "" "" "" "71225"
"00423714" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "M" "" "United States" "" "0" "" "" "" "71227"
"00423715" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "F" "" "United States" "" "0" "" "" "" "71228"
"00423716" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "F" "" "United States" "" "0" "" "" "" "71229"
"00423717" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "F" "" "United States" "" "0" "" "" "" "71230"
"00423718" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "M" "" "Poland" "" "0" "" "" "" "71231"
"00423719" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "F" "" "Poland" "" "0" "" "" "" "71233"
"00423720" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "M" "" "Poland" "" "0" "" "" "" "71234"
"00423721" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "F" "" "" "" "0" "" "" "" "71278"
"00423722" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "F" "" "" "" "0" "" "" "" "71279"
"00423723" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}{PMID:Del Pozo-Valero 2020:32619608}" "" "M" "" "Spain" "" "0" "" "" "" "71280; MD-0653"
"00423724" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "F" "" "" "" "0" "" "" "" "71281"
"00423725" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "F" "" "" "" "0" "" "" "" "71282"
"00423726" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "F" "" "" "" "0" "" "" "" "71284"
"00423727" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "F" "" "" "" "0" "" "" "" "71286"
"00423728" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "M" "" "" "" "0" "" "" "" "71287"
"00423729" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "M" "" "" "" "0" "" "" "" "71288"
"00423730" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "F" "" "" "" "0" "" "" "" "71289"
"00423731" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "M" "" "" "" "0" "" "" "" "71290"
"00423732" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "M" "" "Spain" "" "0" "" "" "" "71293"
"00423733" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}{PMID:Del Pozo-Valero 2020:32619608}" "" "F" "" "Spain" "" "0" "" "" "" "71294; MD-1087"
"00423734" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "M" "" "" "" "0" "" "" "" "71296"
"00423735" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "M" "" "" "" "0" "" "" "" "71297"
"00423736" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "M" "" "" "" "0" "" "" "" "71298"
"00423737" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "F" "" "" "" "0" "" "" "" "71300"
"00423738" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "F" "" "" "" "0" "" "" "" "71301"
"00423739" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "F" "" "" "" "0" "" "" "" "71302"
"00423740" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "F" "" "" "" "0" "" "" "" "71303"
"00423741" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "M" "" "" "" "0" "" "" "" "71304"
"00423742" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "F" "" "" "" "0" "" "" "" "71305"
"00423743" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "F" "" "" "" "0" "" "" "" "71310"
"00423744" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "F" "" "" "" "0" "" "" "" "71311"
"00423745" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "F" "" "" "" "0" "" "" "" "71312"
"00423746" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "F" "" "" "" "0" "" "" "" "71313"
"00423747" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "F" "" "" "" "0" "" "" "" "71314"
"00423748" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "M" "" "" "" "0" "" "" "" "71315"
"00423749" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "M" "" "" "" "0" "" "" "" "71316"
"00423750" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "F" "" "" "" "0" "" "" "" "71317"
"00423751" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "M" "" "" "" "0" "" "" "" "71318"
"00423752" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "F" "" "" "" "0" "" "" "" "71319"
"00423753" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "F" "" "" "" "0" "" "" "" "71320"
"00423754" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "F" "" "" "" "0" "" "" "" "71321"
"00423755" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "M" "" "" "" "0" "" "" "" "71322"
"00423756" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "F" "" "" "" "0" "" "" "" "71323"
"00423757" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "F" "" "" "" "0" "" "" "" "71324"
"00423758" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "M" "" "" "" "0" "" "" "" "71325"
"00423759" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "F" "" "" "" "0" "" "" "" "71327"
"00423760" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "F" "" "" "" "0" "" "" "" "71331"
"00423761" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "M" "" "" "" "0" "" "" "" "71332"
"00423762" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "M" "" "" "" "0" "" "" "" "71333"
"00423763" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "F" "" "" "" "0" "" "" "" "71334"
"00423764" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "M" "" "" "" "0" "" "" "" "71335"
"00423765" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "M" "" "" "" "0" "" "" "" "71371"
"00423766" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "F" "" "" "" "0" "" "" "" "71376"
"00423767" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "M" "" "" "" "0" "" "" "" "71380"
"00423768" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "M" "" "" "" "0" "" "" "" "71383"
"00423769" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "F" "" "" "" "0" "" "" "" "71388"
"00423770" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "F" "" "" "" "0" "" "" "" "71392"
"00423771" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "F" "" "" "" "0" "" "" "" "71394"
"00423772" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "M" "" "" "" "0" "" "" "" "71395"
"00423773" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "M" "" "" "" "0" "" "" "" "71409"
"00423774" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "F" "" "" "" "0" "" "" "" "71410"
"00423775" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "M" "" "" "" "0" "" "" "" "71412"
"00423776" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "F" "" "" "" "0" "" "" "" "71413"
"00423777" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "F" "" "" "" "0" "" "" "" "71414"
"00423778" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "F" "" "" "" "0" "" "" "" "71416"
"00423779" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "F" "" "" "" "0" "" "" "" "71417"
"00423780" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "F" "" "" "" "0" "" "" "" "71418"
"00423781" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "M" "" "" "" "0" "" "" "" "71419"
"00423782" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "F" "" "" "" "0" "" "" "" "71420"
"00423783" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "M" "" "" "" "0" "" "" "" "71421"
"00423784" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "M" "" "" "" "0" "" "" "" "71422"
"00423785" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "F" "" "" "" "0" "" "" "" "71423"
"00423786" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "M" "" "" "" "0" "" "" "" "71424"
"00423787" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "M" "" "" "" "0" "" "" "" "71425"
"00423788" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "F" "" "" "" "0" "" "" "" "71426"
"00423789" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "M" "" "" "" "0" "" "" "" "71427"
"00423790" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "F" "" "" "" "0" "" "" "" "71428"
"00423791" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "F" "" "" "" "0" "" "" "" "71430"
"00423792" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "M" "" "" "" "0" "" "" "" "71431"
"00423793" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "F" "" "" "" "0" "" "" "" "71433"
"00423794" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "F" "" "" "" "0" "" "" "" "71434"
"00423795" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "F" "" "" "" "0" "" "" "" "71435"
"00423796" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "F" "" "" "" "0" "" "" "" "71436"
"00423797" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "F" "" "" "" "0" "" "" "" "71437"
"00423798" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "F" "" "" "" "0" "" "" "" "71439"
"00423799" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "M" "" "" "" "0" "" "" "" "71441"
"00423800" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "F" "" "" "" "0" "" "" "" "71442"
"00423801" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "M" "" "" "" "0" "" "" "" "71445"
"00423802" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "M" "" "" "" "0" "" "" "" "71446"
"00423803" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "M" "" "" "" "0" "" "" "" "71447"
"00423804" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "M" "" "" "" "0" "" "" "" "71448"
"00423805" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "F" "" "" "" "0" "" "" "" "71449"
"00423806" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "F" "" "" "" "0" "" "" "" "71450"
"00423807" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "?" "" "" "" "0" "" "" "" "70619, 070620"
"00423808" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "M" "" "Netherlands" "" "0" "" "" "" "DNA03-04172"
"00423809" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "F" "" "Netherlands" "" "0" "" "" "" "DNA06-06703"
"00423810" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "F" "" "Netherlands" "" "0" "" "" "" "DNA07-09434"
"00423811" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "M" "" "Netherlands" "" "0" "" "" "" "DNA08-00134"
"00423812" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "F" "" "Netherlands" "" "0" "" "" "" "DNA09-10065"
"00423813" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "F" "" "Netherlands" "" "0" "" "" "" "DNA09-10511"
"00423814" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "M" "" "Netherlands" "" "0" "" "" "" "DNA10-08407"
"00423815" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "M" "" "Netherlands" "" "0" "" "" "" "DNA11-02717"
"00423816" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "F" "" "Netherlands" "" "0" "" "" "" "DNA11-04845"
"00423817" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "M" "" "Netherlands" "" "0" "" "" "" "DNA11-12594"
"00423818" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "M" "" "Netherlands" "" "0" "" "" "" "DNA11-13765"
"00423819" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "M" "" "Netherlands" "" "0" "" "" "" "DNA11-25961"
"00423820" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "F" "" "Netherlands" "" "0" "" "" "" "DNA12-04020"
"00423821" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "M" "" "Netherlands" "" "0" "" "" "" "DNA12-04271"
"00423822" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "F" "" "Netherlands" "" "0" "" "" "" "DNA12-08156"
"00423823" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "F" "" "Netherlands" "" "0" "" "" "" "DNA12-10567"
"00423824" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "M" "" "Netherlands" "" "0" "" "" "" "DNA12-15538"
"00423825" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "F" "" "Netherlands" "" "0" "" "" "" "DNA13-00220"
"00423826" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "M" "" "Netherlands" "" "0" "" "" "" "DNA13-08007"
"00423827" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "M" "" "Netherlands" "" "0" "" "" "" "DNA14-32910"
"00423828" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "M" "" "Netherlands" "" "0" "" "" "" "DNA15-01202"
"00423829" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "F" "" "Netherlands" "" "0" "" "" "" "DNA15-04719"
"00423830" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "F" "" "Netherlands" "" "0" "" "" "" "DNA15-10807"
"00423831" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "F" "" "Netherlands" "" "0" "" "" "" "DNA15-13516"
"00423832" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "F" "" "Netherlands" "" "0" "" "" "" "DNA15-16469"
"00423833" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "M" "" "Netherlands" "" "0" "" "" "" "DNA15-18163"
"00423834" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "?" "" "" "" "0" "" "" "" "DNA15-18681"
"00423835" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "M" "" "Netherlands" "" "0" "" "" "" "DNA16-01689"
"00423836" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "F" "" "Netherlands" "" "0" "" "" "" "DNA16-14392"
"00423837" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "F" "" "Greece" "" "0" "" "" "" "DNA17-04157"
"00423838" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "M" "" "Netherlands" "" "0" "" "" "" "DNA17-04813"
"00423839" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "M" "" "Netherlands" "" "0" "" "" "" "DNA17-06668"
"00423840" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "M" "" "Netherlands" "" "0" "" "" "" "DNA17-11027"
"00423841" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "F" "" "Netherlands" "" "0" "" "" "" "DNA17-12962"
"00423842" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "M" "" "Netherlands" "" "0" "" "" "" "DNA17-17631"
"00423843" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "F" "" "Netherlands" "" "0" "" "" "" "DNA17-18054"
"00423844" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "F" "" "Netherlands" "" "0" "" "" "" "DNA17-18368"
"00423845" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "M" "" "Netherlands" "" "0" "" "" "" "DNA17-19624"
"00423846" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "F" "" "Greece" "" "0" "" "" "" "DNA17-20968"
"00423847" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "F" "" "Netherlands" "" "0" "" "" "" "DNA18-03522"
"00423848" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "F" "" "Netherlands" "" "0" "" "" "" "DNA18-15986"
"00423849" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "F" "" "Greece" "" "0" "" "" "" "DNA18-17977"
"00423850" "" "" "" "1" "" "00000" "{PMID:Khan 2020:32307445}" "" "M" "" "Greece" "" "0" "" "" "" "DNA18-17978"
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"00423985" "" "" "" "1" "" "00000" "{PMID:Khan 2019:31212395}{PMID:Khan 2020:32307445}" "" "M" "" "France" "" "0" "" "" "" "67268"
"00423986" "" "" "" "1" "" "00000" "{PMID:Khan 2019:31212395}{PMID:Khan 2020:32307445}" "" "F" "" "France" "" "0" "" "" "" "67271"
"00423987" "" "" "" "1" "" "00000" "{PMID:Khan 2019:31212395}{PMID:Khan 2020:32307445}" "" "F" "" "France" "" "0" "" "" "" "67272"
"00423988" "" "" "" "1" "" "00000" "{PMID:Khan 2019:31212395}{PMID:Khan 2020:32307445}" "" "F" "" "France" "" "0" "" "" "" "67275"
"00423989" "" "" "" "1" "" "00000" "{PMID:Khan 2019:31212395}{PMID:Khan 2020:32307445}" "" "F" "" "France" "" "0" "" "" "" "67276"
"00423990" "" "" "" "1" "" "00000" "{PMID:Khan 2019:31212395}{PMID:Khan 2020:32307445}" "" "F" "" "France" "" "0" "" "" "" "67277"
"00423991" "" "" "" "1" "" "00000" "{PMID:Khan 2019:31212395}{PMID:Khan 2020:32307445}" "" "F" "" "France" "" "0" "" "" "" "67283"
"00423992" "" "" "" "1" "" "00000" "{PMID:Khan 2019:31212395}{PMID:Khan 2020:32307445}" "" "M" "" "France" "" "0" "" "" "" "67284"
"00423993" "" "" "" "1" "" "00000" "{PMID:Khan 2019:31212395}{PMID:Khan 2020:32307445}" "" "F" "" "France" "" "0" "" "" "" "67287"
"00423994" "" "" "" "1" "" "00000" "{PMID:Khan 2019:31212395}{PMID:Khan 2020:32307445}" "" "M" "" "France" "" "0" "" "" "" "67289"
"00423995" "" "" "" "1" "" "00000" "{PMID:Khan 2019:31212395}{PMID:Khan 2020:32307445}" "" "F" "" "France" "" "0" "" "" "" "67291"
"00423996" "" "" "" "1" "" "00000" "{PMID:Khan 2019:31212395}{PMID:Khan 2020:32307445}" "" "F" "" "France" "" "0" "" "" "" "67292"
"00423997" "" "" "" "1" "" "00000" "{PMID:Khan 2019:31212395}{PMID:Khan 2020:32307445}" "" "F" "" "France" "" "0" "" "" "" "67294"
"00423998" "" "" "" "1" "" "00000" "{PMID:Khan 2019:31212395}{PMID:Khan 2020:32307445}" "" "F" "" "France" "" "0" "" "" "" "67295"
"00423999" "" "" "" "1" "" "00000" "{PMID:Khan 2019:31212395}{PMID:Khan 2020:32307445}" "" "M" "" "France" "" "0" "" "" "" "67299"
"00424000" "" "" "" "1" "" "00000" "{PMID:Khan 2019:31212395}{PMID:Khan 2020:32307445}" "" "F" "" "France" "" "0" "" "" "" "67300"
"00424001" "" "" "" "1" "" "00000" "{PMID:Khan 2019:31212395}{PMID:Khan 2020:32307445}" "" "F" "" "France" "" "0" "" "" "" "67301"
"00424002" "" "" "" "1" "" "00000" "{PMID:Khan 2019:31212395}{PMID:Khan 2020:32307445}" "" "M" "" "France" "" "0" "" "" "" "67302"
"00424003" "" "" "" "1" "" "00000" "{PMID:Khan 2019:31212395}{PMID:Khan 2020:32307445}" "" "F" "" "France" "" "0" "" "" "" "67303"
"00424004" "" "" "" "1" "" "00000" "{PMID:Khan 2019:31212395}{PMID:Khan 2020:32307445}" "" "M" "" "France" "" "0" "" "" "" "67309"
"00424005" "" "" "" "1" "" "00000" "{PMID:Khan 2019:31212395}{PMID:Khan 2020:32307445}" "" "F" "" "France" "" "0" "" "" "" "67310"
"00424006" "" "" "" "1" "" "00000" "{PMID:Khan 2019:31212395}{PMID:Khan 2020:32307445}" "" "M" "" "France" "" "0" "" "" "" "67315"
"00424007" "" "" "" "1" "" "00000" "{PMID:Khan 2019:31212395}{PMID:Khan 2020:32307445}" "" "F" "" "France" "" "0" "" "" "" "67321"
"00424008" "" "" "" "1" "" "00000" "{PMID:Khan 2019:31212395}{PMID:Khan 2020:32307445}" "" "F" "" "France" "" "0" "" "" "" "67322"
"00424009" "" "" "" "1" "" "00000" "{PMID:Khan 2019:31212395}{PMID:Khan 2020:32307445}" "" "M" "" "France" "" "0" "" "" "" "67323"
"00424010" "" "" "" "1" "" "00000" "{PMID:Khan 2019:31212395}{PMID:Khan 2020:32307445}" "" "F" "" "France" "" "0" "" "" "" "67324"
"00424011" "" "" "" "1" "" "00000" "{PMID:Khan 2019:31212395}{PMID:Khan 2020:32307445}" "" "F" "" "France" "" "0" "" "" "" "67326"
"00424802" "" "" "" "1" "" "00000" "{PMID:Schmidt_2003:12824224}" "case-control population study" "M;F" "" "" "" "0" "" "" "" "?"
"00424803" "" "" "" "1" "" "00000" "{PMID:Schmidt_2003:12824224}" "case-control population study" "M;F" "" "" "" "0" "" "" "" "?"
"00424804" "" "" "" "1" "" "00000" "{PMID:Schmidt_2003:12824224}" "case-control population study" "M;F" "" "" "" "0" "" "" "" "?"
"00424805" "" "" "" "1" "" "00000" "{PMID:Schmidt_2003:12824224}" "case-control population study" "M;F" "" "" "" "0" "" "" "" "?"
"00424806" "" "" "" "1" "" "00000" "{PMID:Schmidt_2003:12824224}" "case-control population study" "M;F" "" "" "" "0" "" "" "" "?"
"00424807" "" "" "" "1" "" "00000" "{PMID:Schmidt_2003:12824224}" "case-control population study" "M;F" "" "" "" "0" "" "" "" "?"
"00424808" "" "" "" "1" "" "00000" "{PMID:Schmidt_2003:12824224}" "case-control population study" "M;F" "" "" "" "0" "" "" "" "?"
"00424809" "" "" "" "1" "" "00000" "{PMID:Schmidt_2003:12824224}" "case-control population study" "M;F" "" "" "" "0" "" "" "" "?"
"00424810" "" "" "" "1" "" "00000" "{PMID:Schmidt_2003:12824224}" "case-control population study" "M;F" "" "" "" "0" "" "" "" "?"
"00424811" "" "" "" "1" "" "00000" "{PMID:Schmidt_2003:12824224}" "case-control population study" "M;F" "" "" "" "0" "" "" "" "?"
"00424812" "" "" "" "1" "" "00000" "{PMID:Schmidt_2003:12824224}" "case-control population study" "M;F" "" "" "" "0" "" "" "" "?"
"00424813" "" "" "" "1" "" "00000" "{PMID:Schmidt_2003:12824224}" "case-control population study" "M;F" "" "" "" "0" "" "" "" "?"
"00424814" "" "" "" "1" "" "00000" "{PMID:Schmidt_2003:12824224}" "case-control population study" "M;F" "" "" "" "0" "" "" "" "?"
"00424815" "" "" "" "1" "" "00000" "{PMID:Schmidt_2003:12824224}" "case-control population study" "M;F" "" "" "" "0" "" "" "" "?"
"00424816" "" "" "" "1" "" "00000" "{PMID:Schmidt_2003:12824224}" "case-control population study" "M;F" "" "" "" "0" "" "" "" "?"
"00424817" "" "" "" "1" "" "00000" "{PMID:Schmidt_2003:12824224}" "case-control population study" "M;F" "" "" "" "0" "" "" "" "?"
"00424818" "" "" "" "1" "" "00000" "{PMID:Schmidt_2003:12824224}" "case-control population study" "M;F" "" "" "" "0" "" "" "" "?"
"00424819" "" "" "" "1" "" "00000" "{PMID:Schmidt_2003:12824224}" "case-control population study" "M;F" "" "" "" "0" "" "" "" "?"
"00424820" "" "" "" "1" "" "00000" "{PMID:Schmidt_2003:12824224}" "case-control population study" "M;F" "" "" "" "0" "" "" "" "?"
"00424821" "" "" "" "1" "" "00000" "{PMID:Schmidt_2003:12824224}" "case-control population study" "M;F" "" "" "" "0" "" "" "" "?"
"00424822" "" "" "" "1" "" "00000" "{PMID:Schmidt_2003:12824224}" "case-control population study" "M;F" "" "" "" "0" "" "" "" "?"
"00424823" "" "" "" "1" "" "00000" "{PMID:Schmidt_2003:12824224}" "case-control population study" "M;F" "" "" "" "0" "" "" "" "?"
"00424824" "" "" "" "1" "" "00000" "{PMID:Schmidt_2003:12824224}" "case-control population study" "M;F" "" "" "" "0" "" "" "" "?"
"00424825" "" "" "" "1" "" "00000" "{PMID:Schmidt_2003:12824224}" "case-control population study" "M;F" "" "" "" "0" "" "" "" "?"
"00424826" "" "" "" "1" "" "00000" "{PMID:Schmidt_2003:12824224}" "case-control population study" "M;F" "" "" "" "0" "" "" "" "?"
"00424830" "" "" "" "2" "" "00006" "{PMID:Huang 2022:36209838}" "2-generation family, 2 affected" "" "" "Australia" "" "0" "" "" "" "Fam1Pat1"
"00424831" "" "" "00424830" "1" "" "00006" "{PMID:Huang 2022:36209838}" "relative" "" "" "Australia" "" "0" "" "" "" "Fam1Pat2"
"00424832" "" "" "" "2" "" "00006" "{PMID:Huang 2022:36209838}" "2-generation family, 2 affected" "" "" "Australia" "" "0" "" "" "" "Fam2Pat1"
"00424833" "" "" "00424832" "1" "" "00006" "{PMID:Huang 2022:36209838}" "relative" "" "" "Australia" "" "0" "" "" "" "Fam2Pat2"
"00424834" "" "" "" "2" "" "00006" "{PMID:Huang 2022:36209838}" "2-generation family, 2 affected" "" "" "Australia" "" "0" "" "" "" "Fam3Pat1"
"00424835" "" "" "00424834" "1" "" "00006" "{PMID:Huang 2022:36209838}" "relative" "" "" "Australia" "" "0" "" "" "" "Fam3Pat2"
"00424836" "" "" "" "3" "" "00006" "{PMID:Huang 2022:36209838}" "2-generation family, 3 affected" "" "" "Australia" "" "0" "" "" "" "Fam4Pat1"
"00424837" "" "" "00424836" "1" "" "00006" "{PMID:Huang 2022:36209838}" "relative" "" "" "Australia" "" "0" "" "" "" "Fam4Pat2"
"00424838" "" "" "00424836" "1" "" "00006" "{PMID:Huang 2022:36209838}" "relative" "" "" "Australia" "" "0" "" "" "" "Fam4Pat3"
"00424839" "" "" "" "2" "" "00006" "{PMID:Huang 2022:36209838}" "2-generation family, 2 affected" "" "" "Australia" "" "0" "" "" "" "Fam5"
"00424840" "" "" "00424839" "1" "" "00006" "{PMID:Huang 2022:36209838}" "relative" "" "" "Australia" "" "0" "" "" "" "Fam5Pat1"
"00424841" "" "" "" "2" "" "00006" "{PMID:Huang 2022:36209838}" "2-generation family, 2 affected" "" "" "Australia" "" "0" "" "" "" "Fam6Pat1"
"00424842" "" "" "00424841" "1" "" "00006" "{PMID:Huang 2022:36209838}" "relative" "" "" "Australia" "" "0" "" "" "" "Fam6Pat2"
"00424843" "" "" "" "2" "" "00006" "{PMID:Huang 2022:36209838}" "2-generation family, 2 affected" "" "" "Australia" "" "0" "" "" "" "Fam7Pat1"
"00424844" "" "" "00424843" "1" "" "00006" "{PMID:Huang 2022:36209838}" "relative" "" "" "Australia" "" "0" "" "" "" "Fam7Pat2"
"00424845" "" "" "" "2" "" "00006" "{PMID:Huang 2022:36209838}" "2-generation family, 2 affected" "" "" "Australia" "" "0" "" "" "" "Fam8Pat1"
"00424846" "" "" "00424845" "1" "" "00006" "{PMID:Huang 2022:36209838}" "relative" "" "" "Australia" "" "0" "" "" "" "Fam8Pat2"
"00424847" "" "" "" "3" "" "00006" "{PMID:Huang 2022:36209838}" "2-generation family, 3 affected" "" "" "Australia" "" "0" "" "" "" "Fam9"
"00424848" "" "" "00424847" "1" "" "00006" "{PMID:Huang 2022:36209838}" "relative" "" "" "Australia" "" "0" "" "" "" "Fam9Pat1"
"00424849" "" "" "00424847" "1" "" "00006" "{PMID:Huang 2022:36209838}" "relative" "" "" "Australia" "" "0" "" "" "" "Fam9Pat2"
"00424850" "" "" "" "2" "" "00006" "{PMID:Huang 2022:36209838}" "2-generation family, 2 affected" "" "" "Australia" "" "0" "" "" "" "Fam10Pat1"
"00424851" "" "" "00424850" "1" "" "00006" "{PMID:Huang 2022:36209838}" "relative" "" "" "Australia" "" "0" "" "" "" "Fam10Pat2"
"00424852" "" "" "" "1" "" "00006" "{PMID:Huang 2022:36209838}" "" "" "" "Australia" "" "0" "" "" "" "Pat11"
"00424853" "" "" "" "1" "" "00006" "{PMID:Huang 2022:36209838}" "" "" "" "Australia" "" "0" "" "" "" "Pat12"
"00424854" "" "" "" "1" "" "00006" "{PMID:Huang 2022:36209838}" "" "" "" "Australia" "" "0" "" "" "" "Pat13"
"00424855" "" "" "" "1" "" "00006" "{PMID:Huang 2022:36209838}" "" "" "" "Australia" "" "0" "" "" "" "Pat14"
"00424856" "" "" "" "2" "" "00006" "{PMID:Huang 2022:36209838}" "2-generation family, 2 affected" "" "" "Australia" "" "0" "" "" "" "Fam15Pat1"
"00424857" "" "" "00424856" "1" "" "00006" "{PMID:Huang 2022:36209838}" "relative" "" "" "Australia" "" "0" "" "" "" "Fam15Pat2"
"00424858" "" "" "" "1" "" "00006" "{PMID:Huang 2022:36209838}" "" "" "" "Australia" "" "0" "" "" "" "Pat16"
"00424859" "" "" "" "1" "" "00006" "{PMID:Huang 2022:36209838}" "" "" "" "Australia" "" "0" "" "" "" "Pat17"
"00424860" "" "" "" "1" "" "00006" "{PMID:Huang 2022:36209838}" "" "" "" "Australia" "" "0" "" "" "" "Pat18"
"00424861" "" "" "" "1" "" "00006" "{PMID:Huang 2022:36209838}" "" "" "" "Australia" "" "0" "" "" "" "Pat19"
"00424862" "" "" "" "1" "" "00006" "{PMID:Huang 2022:36209838}" "" "" "" "Australia" "" "0" "" "" "" "Pat20"
"00424863" "" "" "" "1" "" "00006" "{PMID:Huang 2022:36209838}" "" "" "" "Australia" "" "0" "" "" "" "Pat21"
"00424864" "" "" "" "1" "" "00006" "{PMID:Huang 2022:36209838}" "" "" "" "Australia" "" "0" "" "" "" "Pat22"
"00424865" "" "" "" "1" "" "00006" "{PMID:Huang 2022:36209838}" "" "" "" "Australia" "" "0" "" "" "" "Pat23"
"00424866" "" "" "" "1" "" "00006" "{PMID:Huang 2022:36209838}" "" "" "" "Australia" "" "0" "" "" "" "Pat24"
"00424867" "" "" "" "1" "" "00006" "{PMID:Huang 2022:36209838}" "" "" "" "Australia" "" "0" "" "" "" "Pat25"
"00424868" "" "" "" "1" "" "00006" "{PMID:Huang 2022:36209838}" "" "" "" "Australia" "" "0" "" "" "" "Pat26"
"00424869" "" "" "" "1" "" "00006" "{PMID:Huang 2022:36209838}" "" "" "" "Australia" "" "0" "" "" "" "Pat27"
"00424870" "" "" "" "1" "" "00006" "{PMID:Huang 2022:36209838}" "" "" "" "Australia" "" "0" "" "" "" "Pat28"
"00424871" "" "" "" "1" "" "00006" "{PMID:Huang 2022:36209838}" "" "" "" "Australia" "" "0" "" "" "" "Pat29"
"00424872" "" "" "" "1" "" "00006" "{PMID:Huang 2022:36209838}" "" "" "" "Australia" "" "0" "" "" "" "Pat30"
"00424873" "" "" "" "1" "" "00006" "{PMID:Huang 2022:36209838}" "" "" "" "Australia" "" "0" "" "" "" "Pat31"
"00424874" "" "" "" "1" "" "00006" "{PMID:Huang 2022:36209838}" "" "" "" "Australia" "" "0" "" "" "" "Pat32"
"00424875" "" "" "" "1" "" "00006" "{PMID:Huang 2022:36209838}" "" "" "" "Australia" "" "0" "" "" "" "Pat33"
"00424876" "" "" "" "1" "" "00006" "{PMID:Huang 2022:36209838}" "" "" "" "Australia" "" "0" "" "" "" "Pat34"
"00424877" "" "" "" "2" "" "00006" "{PMID:Huang 2022:36209838}" "2-generation family, 2 affected" "" "" "Australia" "" "0" "" "" "" "Fam35Pat1"
"00424878" "" "" "00424877" "1" "" "00006" "{PMID:Huang 2022:36209838}" "relative" "" "" "Australia" "" "0" "" "" "" "Fam35Pat2"
"00424879" "" "" "" "1" "" "00006" "{PMID:Huang 2022:36209838}" "" "" "" "Australia" "" "0" "" "" "" "Pat36"
"00424880" "" "" "" "1" "" "00006" "{PMID:Huang 2022:36209838}" "" "" "" "Australia" "" "0" "" "" "" "Pat37"
"00424881" "" "" "" "1" "" "00006" "{PMID:Huang 2022:36209838}" "" "" "" "Australia" "" "0" "" "" "" "Pat38"
"00424882" "" "" "" "1" "" "00006" "{PMID:Huang 2022:36209838}" "" "" "" "Australia" "" "0" "" "" "" "Pat39"
"00424883" "" "" "" "1" "" "00006" "{PMID:Huang 2022:36209838}" "" "" "" "Australia" "" "0" "" "" "" "Pat40"
"00424884" "" "" "" "1" "" "00006" "{PMID:Huang 2022:36209838}" "" "" "" "Australia" "" "0" "" "" "" "Pat41"
"00424885" "" "" "" "1" "" "00006" "{PMID:Huang 2022:36209838}" "" "" "" "Australia" "" "0" "" "" "" "Pat42"
"00424886" "" "" "" "1" "" "00006" "{PMID:Huang 2022:36209838}" "" "" "" "Australia" "" "0" "" "" "" "Pat43"
"00424887" "" "" "" "2" "" "00006" "{PMID:Huang 2022:36209838}" "2-generation family, 2 affected" "" "" "Australia" "" "0" "" "" "" "Fam44Pat1"
"00424888" "" "" "00424887" "1" "" "00006" "{PMID:Huang 2022:36209838}" "relative" "" "" "Australia" "" "0" "" "" "" "Fam44Pat2"
"00424889" "" "" "" "1" "" "00006" "{PMID:Huang 2022:36209838}" "" "" "" "Australia" "" "0" "" "" "" "Pat45"
"00424890" "" "" "" "1" "" "00006" "{PMID:Huang 2022:36209838}" "" "" "" "Australia" "" "0" "" "" "" "Pat46"
"00424891" "" "" "" "1" "" "00006" "{PMID:Huang 2022:36209838}" "" "" "" "Australia" "" "0" "" "" "" "Pat47"
"00424892" "" "" "" "1" "" "00006" "{PMID:Huang 2022:36209838}" "" "" "" "Australia" "" "0" "" "" "" "Pat48"
"00424893" "" "" "" "1" "" "00006" "{PMID:Huang 2022:36209838}" "" "" "" "Australia" "" "0" "" "" "" "Pat49"
"00424894" "" "" "" "1" "" "00006" "{PMID:Huang 2022:36209838}" "" "" "" "Australia" "" "0" "" "" "" "Pat50"
"00424895" "" "" "" "1" "" "00006" "{PMID:Huang 2022:36209838}" "" "" "" "Australia" "" "0" "" "" "" "Pat51"
"00424896" "" "" "" "1" "" "00006" "{PMID:Huang 2022:36209838}" "" "" "" "Australia" "" "0" "" "" "" "Pat52"
"00424898" "" "" "" "1" "" "00000" "{PMID:Shastry 2008:18506364}" "family 1; affected maternal aunt does not have the mutation" "F" "" "" "" "0" "" "" "" "1_II-1"
"00424899" "" "" "" "1" "" "00000" "{PMID:Shastry 2008:18506364}" "family 2" "M" "" "" "" "0" "" "" "" "2_II-1"
"00424900" "" "" "" "1" "" "00000" "{PMID:Shastry 2008:18506364}" "family 3" "M" "" "" "" "0" "" "" "" "3_II-1"
"00424901" "" "" "" "1" "" "00000" "{PMID:Cohen 2013:23883535}" "" "F" "" "" "" "0" "" "" "" "?"
"00424902" "" "" "" "1" "" "00000" "{PMID:Wu 2015:26261643}" "case-control study: smoking and ABCA4 alleles as AMD risk" "M;F" "" "" "" "0" "" "" "" "?"
"00424903" "" "" "" "1" "" "00000" "{PMID:Wu 2015:26261643}" "case-control study: smoking and ABCA4 alleles as AMD risk" "M;F" "" "" "" "0" "" "" "" "?"
"00424904" "" "" "" "1" "" "00000" "{PMID:Wu 2015:26261643}" "case-control study: smoking and ABCA4 alleles as AMD risk" "M;F" "" "" "" "0" "" "" "" "?"
"00424917" "" "" "" "1" "" "00000" "{PMID:Sheremet 2019:31573552}" "(article in Russian, mutations from the table)" "" "" "" "" "0" "" "" "" "1"
"00424918" "" "" "" "1" "" "00000" "{PMID:Sheremet 2019:31573552}" "(article in Russian, mutations from the table)" "" "" "" "" "0" "" "" "" "2"
"00424919" "" "" "" "1" "" "00000" "{PMID:Sheremet 2019:31573552}" "(article in Russian, mutations from the table)" "" "" "" "" "0" "" "" "" "3"
"00424920" "" "" "" "1" "" "00000" "{PMID:Sheremet 2019:31573552}" "(article in Russian, mutations from the table)" "" "" "" "" "0" "" "" "" "4"
"00424921" "" "" "" "1" "" "00000" "{PMID:Sheremet 2019:31573552}" "(article in Russian, mutations from the table)" "" "" "" "" "0" "" "" "" "5"
"00424922" "" "" "" "1" "" "00000" "{PMID:Sheremet 2019:31573552}" "(article in Russian, mutations from the table)" "" "" "" "" "0" "" "" "" "6"
"00424923" "" "" "" "1" "" "00000" "{PMID:Sheremet 2019:31573552}" "(article in Russian, mutations from the table)" "" "" "" "" "0" "" "" "" "7"
"00424924" "" "" "" "1" "" "00000" "{PMID:Sheremet 2019:31573552}" "(article in Russian, mutations from the table)" "" "" "" "" "0" "" "" "" "7"
"00424925" "" "" "" "1" "" "00000" "{PMID:Sheremet 2019:31573552}" "(article in Russian, mutations from the table)" "" "" "" "" "0" "" "" "" "8"
"00424926" "" "" "" "1" "" "00000" "{PMID:Sheremet 2019:31573552}" "(article in Russian, mutations from the table)" "" "" "" "" "0" "" "" "" "9"
"00424927" "" "" "" "1" "" "00000" "{PMID:Sheremet 2019:31573552}" "(article in Russian, mutations from the table)" "" "" "" "" "0" "" "" "" "10"
"00424928" "" "" "" "1" "" "00000" "{PMID:Sheremet 2019:31573552}" "(article in Russian, mutations from the table)" "" "" "" "" "0" "" "" "" "11"
"00424929" "" "" "" "1" "" "00000" "{PMID:Sheremet 2019:31573552}" "(article in Russian, mutations from the table)" "" "" "" "" "0" "" "" "" "12"
"00424930" "" "" "" "1" "" "00000" "{PMID:Sheremet 2019:31573552}" "(article in Russian, mutations from the table)" "" "" "" "" "0" "" "" "" "13"
"00424931" "" "" "" "1" "" "00000" "{PMID:Sheremet 2019:31573552}" "(article in Russian, mutations from the table)" "" "" "" "" "0" "" "" "" "14"
"00424932" "" "" "" "1" "" "00000" "{PMID:Sheremet 2019:31573552}" "(article in Russian, mutations from the table)" "" "" "" "" "0" "" "" "" "15"
"00424933" "" "" "" "1" "" "00000" "{PMID:Sheremet 2019:31573552}" "(article in Russian, mutations from the table)" "" "" "" "" "0" "" "" "" "16"
"00424934" "" "" "" "1" "" "00000" "{PMID:Sheremet 2019:31573552}" "(article in Russian, mutations from the table)" "" "" "" "" "0" "" "" "" "17"
"00424935" "" "" "" "1" "" "00000" "{PMID:Sheremet 2019:31573552}" "(article in Russian, mutations from the table)" "" "" "" "" "0" "" "" "" "18"
"00424936" "" "" "" "1" "" "00000" "{PMID:Sheremet 2019:31573552}" "(article in Russian, mutations from the table)" "" "" "" "" "0" "" "" "" "19"
"00426478" "" "" "" "1" "" "00000" "{PMID:Stenirri 2012:22706241}" "" "F" "" "" "" "0" "" "" "white" "?"
"00426610" "" "" "" "1" "" "00000" "{PMID:Marsiglia 2015:25375877}" "3 generations affected, 1 patient tested" "M" "" "" "" "0" "" "" "" "?"
"00426630" "" "" "" "1" "" "00000" "{PMID:Peng 2016:27527345}" "" "" "" "Taiwan" "" "0" "" "" "Taiwanese" "?"
"00426631" "" "" "" "1" "" "00000" "{PMID:Peng 2016:27527345}" "" "" "" "Taiwan" "" "0" "" "" "Taiwanese" "?"
"00426632" "" "" "" "1" "" "00000" "{PMID:Peng 2016:27527345}" "" "" "" "Taiwan" "" "0" "" "" "Taiwanese" "?"
"00426633" "" "" "" "1" "" "00000" "{PMID:Peng 2016:27527345}" "" "" "" "Taiwan" "" "0" "" "" "Taiwanese" "?"
"00426634" "" "" "" "1" "" "00000" "{PMID:Peng 2016:27527345}" "" "" "" "Taiwan" "" "0" "" "" "Taiwanese" "?"
"00426646" "" "" "" "1" "" "00000" "{PMID:Hayashi 2020:31583501}" "proband\'s daughter" "F" "" "Japan" "" "0" "" "" "Japanese" "III-1"
"00426647" "" "" "" "1" "" "00000" "{PMID:Hayashi 2020:31583501}" "proband\'s son" "M" "" "Japan" "" "0" "" "" "Japanese" "III-2"
"00426652" "" "" "" "1" "" "00000" "{PMID:Battaglia-Parodi 2012:21786275}" "" "M" "" "Italy" "" "0" "" "" "" "?"
"00426903" "" "" "" "1" "" "00000" "{PMID:Zhu 2022:35456422}" "family 5, individual 6" "F" "" "" "" "0" "" "" "" "5_6"
"00426912" "" "" "" "1" "" "00000" "{PMID:Zhu 2022:35456422}" "family 17, individual 19" "F" "" "" "" "0" "" "" "" "17_19"
"00426932" "" "" "" "1" "" "00000" "{PMID:Zhu 2022:35456422}" "family 37, individual 43" "F" "" "" "" "0" "" "" "" "37_43"
"00426946" "" "" "" "1" "" "00000" "{PMID:Zhu 2022:35456422}" "family 50, individual 59" "F" "" "" "" "0" "" "" "" "50_59"
"00426947" "" "" "" "1" "" "00000" "{PMID:Zhu 2022:35456422}" "family 51, individual 60" "M" "" "" "" "0" "" "" "" "51_60"
"00426948" "" "" "" "1" "" "00000" "{PMID:Zhu 2022:35456422}" "family 52, individual 61" "M" "" "" "" "0" "" "" "" "52_61"
"00426949" "" "" "" "1" "" "00000" "{PMID:Zhu 2022:35456422}" "family 53, individual 62" "M" "" "" "" "0" "" "" "" "53_62"
"00426950" "" "" "" "1" "" "00000" "{PMID:Zhu 2022:35456422}" "family 54, individual 63" "F" "" "" "" "0" "" "" "" "54_63"
"00427655" "" "" "" "1" "" "00000" "{PMID:Klevering 2005:15614537}" "" "M" "?" "Netherlands" "" "0" "" "" "" "1"
"00427656" "" "" "" "1" "" "00000" "{PMID:Klevering 2005:15614537}" "" "M" "?" "Netherlands" "" "0" "" "" "" "2"
"00427657" "" "" "" "1" "" "00000" "{PMID:Klevering 2005:15614537}" "" "M" "?" "Netherlands" "" "0" "" "" "" "3"
"00427658" "" "" "" "1" "" "00000" "{PMID:Klevering 2005:15614537}" "" "F" "?" "Netherlands" "" "0" "" "" "" "4"
"00427659" "" "" "" "1" "" "00000" "{PMID:Klevering 2005:15614537}" "" "F" "?" "Netherlands" "" "0" "" "" "" "5"
"00427660" "" "" "" "1" "" "00000" "{PMID:Klevering 2005:15614537}" "" "F" "?" "Netherlands" "" "0" "" "" "" "6"
"00427661" "" "" "" "1" "" "00000" "{PMID:Klevering 2005:15614537}" "" "F" "?" "Netherlands" "" "0" "" "" "" "7"
"00427662" "" "" "" "1" "" "00000" "{PMID:Klevering 2005:15614537}" "" "M" "?" "Netherlands" "" "0" "" "" "" "8"
"00427663" "" "" "" "1" "" "00000" "{PMID:Klevering 2005:15614537}" "" "M" "?" "Netherlands" "" "0" "" "" "" "9"
"00429482" "" "" "" "1" "" "04436" "{PMID:Panneman 2023:36819107}" "" "M" "" "" "" "0" "" "" "" ""
"00429515" "" "" "" "1" "" "04436" "{PMID:Panneman 2023:36819107}" "" "F" "" "" "" "0" "" "" "" ""
"00429521" "" "" "" "1" "" "04436" "{PMID:Panneman 2023:36819107}" "" "F" "" "" "" "0" "" "" "" ""
"00429523" "" "" "" "1" "" "04436" "{PMID:Panneman 2023:36819107}" "" "F" "" "" "" "0" "" "" "" ""
"00429527" "" "" "" "1" "" "04436" "{PMID:Panneman 2023:36819107}" "" "M" "" "" "" "0" "" "" "" ""
"00429537" "" "" "" "1" "" "04436" "{PMID:Panneman 2023:36819107}" "" "M" "" "" "" "0" "" "" "" ""
"00429561" "" "" "" "1" "" "04436" "{PMID:Panneman 2023:36819107}" "" "F" "" "" "" "0" "" "" "" ""
"00429618" "" "" "" "1" "" "04436" "{PMID:Panneman 2023:36819107}" "" "M" "" "" "" "0" "" "" "" ""
"00429632" "" "" "" "1" "" "04436" "{PMID:Panneman 2023:36819107}" "" "F" "" "" "" "0" "" "" "" ""
"00429640" "" "" "" "1" "" "04436" "{PMID:Panneman 2023:36819107}" "" "F" "" "" "" "0" "" "" "" ""
"00429647" "" "" "" "1" "" "04436" "{PMID:Panneman 2023:36819107}" "" "M" "" "" "" "0" "" "" "" ""
"00429676" "" "" "" "1" "" "04436" "{PMID:Panneman 2023:36819107}" "" "F" "" "" "" "0" "" "" "" ""
"00429722" "" "" "" "1" "" "04436" "{PMID:Panneman 2023:36819107}" "" "F" "" "" "" "0" "" "" "" ""
"00429764" "" "" "" "1" "" "04436" "{PMID:Panneman 2023:36819107}" "" "F" "" "" "" "0" "" "" "" ""
"00429820" "" "" "" "1" "" "04436" "{PMID:Panneman 2023:36819107}" "" "F" "" "" "" "0" "" "" "" ""
"00429831" "" "" "" "1" "" "04436" "{PMID:Panneman 2023:36819107}" "" "F" "" "" "" "0" "" "" "" ""
"00429861" "" "" "" "1" "" "04436" "{PMID:Panneman 2023:36819107}" "" "M" "" "" "" "0" "" "" "" ""
"00429935" "" "" "" "1" "" "04436" "{PMID:Panneman 2023:36819107}" "" "F" "" "" "" "0" "" "" "" ""
"00429950" "" "" "" "1" "" "04436" "{PMID:Panneman 2023:36819107}" "" "F" "" "" "" "0" "" "" "" ""
"00429968" "" "" "" "1" "" "04436" "{PMID:Panneman 2023:36819107}" "" "M" "" "" "" "0" "" "" "" ""
"00430006" "" "" "" "1" "" "04436" "{PMID:Panneman 2023:36819107}" "" "F" "" "" "" "0" "" "" "" ""
"00430007" "" "" "" "1" "" "04436" "{PMID:Panneman 2023:36819107}" "" "M" "" "" "" "0" "" "" "" ""
"00430008" "" "" "" "1" "" "04436" "{PMID:Panneman 2023:36819107}" "" "F" "" "" "" "0" "" "" "" ""
"00430134" "" "" "" "1" "" "04436" "{PMID:Panneman 2023:36819107}" "" "F" "" "" "" "0" "" "" "" ""
"00430542" "" "" "" "1" "" "04333" "{PMID:Ben Yosef 2023:37287645}" "family, 1 affected" "M" "no" "Israel" "" "" "" "" "Ethiopia;Jew" "Fam12"
"00432535" "" "" "" "2" "" "04473" "Bianco 2023, submitted" "" "M" "no" "Italy" "" "0" "" "" "" "601691#1"
"00432536" "" "" "00432535" "1" "" "04473" "Bianco 2023, submitted" "" "M" "no" "Italy" "" "" "" "" "" "601691#2"
"00432537" "" "" "" "1" "" "04473" "Bianco 2023, submitted" "" "F" "no" "Italy" "" "" "" "" "Jordanian" "601691#3"
"00432538" "" "" "" "1" "" "04473" "Bianco 2023, submitted" "" "M" "no" "Italy" "" "" "" "" "Pakistanian" "601691#4"
"00432539" "" "" "" "2" "" "04473" "Bianco 2023, submitted" "" "M" "no" "Italy" "" "" "" "" "" "601691#5"
"00432540" "" "" "" "1" "" "04473" "Bianco 2023, submitted" "" "M" "no" "Italy" "" "" "" "" "" "601691#6"
"00432541" "" "" "" "1" "" "04473" "Bianco 2023, submitted" "" "F" "no" "Italy" "" "" "" "" "" "601691#7"
"00432542" "" "" "" "1" "" "04473" "Bianco 2023, submitted" "" "M" "no" "Italy" "" "" "" "" "" "601691#8"
"00432543" "" "" "" "1" "" "04473" "Bianco 2023, submitted" "" "F" "no" "Italy" "" "" "" "" "Romanian" "601691#9"
"00432544" "" "" "" "1" "" "04473" "Bianco 2023, submitted" "" "F" "no" "Italy" "" "" "" "" "" "601691#10"
"00432545" "" "" "" "1" "" "04473" "Bianco 2023, submitted" "" "F" "no" "Italy" "" "" "" "" "" "601691#11"
"00432546" "" "" "" "1" "" "04473" "Bianco 2023, submitted" "" "F" "no" "Italy" "" "" "" "" "" "601691#12"
"00432547" "" "" "" "2" "" "04473" "Bianco 2023, submitted" "" "M" "no" "Italy" "" "" "" "" "" "601691#13"
"00432548" "" "" "00432547" "1" "" "04473" "Bianco 2023, submitted" "" "M" "no" "Italy" "" "" "" "" "" "601691#14"
"00432549" "" "" "" "1" "" "04473" "Bianco 2023, submitted" "" "F" "no" "Italy" "" "" "" "" "" "601691#15"
"00432550" "" "" "00432539" "1" "" "04473" "Bianco 2023, submitted" "" "F" "no" "Italy" "" "" "" "" "" "601691#16"
"00432867" "" "" "" "1" "" "04473" "Bianco 2023, submitted" "" "F" "no" "Italy" "" "" "" "" "" "601691#17"
"00432868" "" "" "" "1" "" "04473" "Bianco 2023, submitted" "" "F" "no" "Italy" "" "" "" "" "" "601691#18"
"00432869" "" "" "" "1" "" "04473" "Bianco 2023, submitted" "" "F" "no" "Italy" "" "" "" "" "" "601691#19"
"00432870" "" "" "" "1" "" "04473" "Bianco 2023, submitted" "" "M" "no" "Italy" "" "" "" "" "" "601691#20"
"00432871" "" "" "" "1" "" "04473" "Bianco 2023, submitted" "" "M" "no" "Italy" "" "" "" "" "" "601691#21"
"00432872" "" "" "" "1" "" "04473" "Bianco 2023, submitted" "" "F" "no" "Italy" "" "" "" "" "" "601691#22"
"00432873" "" "" "" "1" "" "04473" "Bianco 2023, submitted" "" "F" "no" "Italy" "" "" "" "" "" "601691#23"
"00432874" "" "" "" "1" "" "04473" "Bianco 2023, submitted" "" "F" "no" "Italy" "" "" "" "" "Romanian" "601691#24"
"00432875" "" "" "" "1" "" "04473" "Bianco 2023, submitted" "" "F" "no" "Italy" "" "" "" "" "" "601691#25"
"00432876" "" "" "" "1" "" "04473" "Bianco 2023, submitted" "" "M" "no" "Italy" "" "" "" "" "" "601691#26"
"00432877" "" "" "" "2" "" "04473" "Bianco 2023, submitted" "" "F" "no" "Italy" "" "" "" "" "" "601691#27"
"00432878" "" "" "" "1" "" "04473" "Bianco 2023, submitted" "" "M" "no" "Italy" "" "" "" "" "" "601691#28"
"00432879" "" "" "" "1" "" "04473" "Bianco 2023, submitted" "" "F" "no" "Italy" "" "" "" "" "" "601691#29"
"00432880" "" "" "" "1" "" "04473" "Bianco 2023, submitted" "" "F" "no" "Italy" "" "" "" "" "Romanian" "601691#30"
"00432881" "" "" "" "1" "" "04473" "Bianco 2023, submitted" "" "M" "no" "Italy" "" "" "" "" "" "601691#31"
"00432882" "" "" "" "1" "" "04473" "Bianco 2023, submitted" "" "F" "no" "Italy" "" "" "" "" "" "601691#32"
"00432883" "" "" "" "1" "" "04473" "Bianco 2023, submitted" "" "M" "no" "Italy" "" "" "" "" "" "601691#33"
"00432884" "" "" "" "2" "" "04473" "Bianco 2023, submitted" "" "M" "no" "Italy" "" "" "" "" "" "601691#34"
"00432885" "" "" "00432884" "1" "" "04473" "Bianco 2023, submitted" "" "F" "no" "Italy" "" "" "" "" "" "601691#35"
"00432886" "" "" "" "1" "" "04473" "Bianco 2023, submitted" "" "M" "no" "Italy" "" "" "" "" "Spanish" "601691#36"
"00432887" "" "" "" "2" "" "04473" "Bianco 2023, submitted" "" "F" "no" "Italy" "" "" "" "" "" "601691#37"
"00432888" "" "" "00432887" "1" "" "04473" "Bianco 2023, submitted" "" "M" "no" "Italy" "" "" "" "" "" "601691#38"
"00432889" "" "" "" "1" "" "04473" "Bianco 2023, submitted" "" "M" "no" "Italy" "" "" "" "" "" "601691#39"
"00432890" "" "" "" "1" "" "04473" "Bianco 2023, submitted" "" "M" "no" "Italy" "" "" "" "" "" "601691#40"
"00432891" "" "" "" "1" "" "04473" "Bianco 2023, submitted" "" "F" "no" "Italy" "" "" "" "" "" "601691#41"
"00432892" "" "" "" "1" "" "04473" "Bianco 2023, submitted" "" "M" "no" "Italy" "" "" "" "" "" "601691#42"
"00432893" "" "" "" "1" "" "04473" "Bianco 2023, submitted" "" "F" "no" "Italy" "" "" "" "" "" "601691#43"
"00432894" "" "" "" "1" "" "04473" "Bianco 2023, submitted" "" "F" "no" "Italy" "" "" "" "" "" "601691#44"
"00432895" "" "" "" "1" "" "04473" "Bianco 2023, submitted" "" "F" "no" "Italy" "" "" "" "" "" "601691#45"
"00432896" "" "" "" "1" "" "04473" "Bianco 2023, submitted" "" "M" "no" "Italy" "" "" "" "" "" "601691#46"
"00432897" "" "" "" "2" "" "04473" "Bianco 2023, submitted" "" "M" "no" "Italy" "" "" "" "" "" "601691#47"
"00432898" "" "" "00432897" "1" "" "04473" "Bianco 2023, submitted" "" "M" "no" "Italy" "" "" "" "" "" "601691#48"
"00432899" "" "" "" "1" "" "04473" "Bianco 2023, submitted" "" "M" "no" "Italy" "" "" "" "" "" "601691#49"
"00432900" "" "" "" "1" "" "04473" "Bianco 2023, submitted" "" "M" "no" "Italy" "" "" "" "" "" "601691#50"
"00432901" "" "" "" "1" "" "04473" "Bianco 2023, submitted" "" "F" "no" "Italy" "" "" "" "" "" "601691#51"
"00432902" "" "" "" "1" "" "04473" "Bianco 2023, submitted" "" "M" "no" "Italy" "" "" "" "" "" "601691#52"
"00432903" "" "" "" "2" "" "04473" "Bianco 2023, submitted" "" "F" "no" "Italy" "" "" "" "" "Spanish" "601691#53"
"00432904" "" "" "00432903" "1" "" "04473" "Bianco 2023, submitted" "" "F" "no" "Italy" "" "" "" "" "Spanish" "601691#54"
"00432905" "" "" "" "1" "" "04473" "Bianco 2023, submitted" "" "F" "no" "Italy" "" "" "" "" "" "601691#55"
"00432906" "" "" "" "1" "" "04473" "Bianco 2023, submitted" "" "F" "no" "Italy" "" "" "" "" "" "601691#56"
"00432907" "" "" "" "2" "" "04473" "Bianco 2023, submitted" "" "M" "no" "Italy" "" "" "" "" "" "601691#57"
"00432908" "" "" "00432907" "1" "" "04473" "Bianco 2023, submitted" "" "M" "no" "Italy" "" "" "" "" "" "601691#58"
"00432909" "" "" "" "1" "" "04473" "Bianco 2023, submitted" "" "M" "no" "Italy" "" "" "" "" "" "601691#59"
"00432910" "" "" "" "1" "" "04473" "Bianco 2023, submitted" "" "F" "no" "Italy" "" "" "" "" "" "601691#60"
"00432911" "" "" "00432877" "1" "" "04473" "Bianco 2023, submitted" "" "F" "no" "Italy" "" "" "" "" "" "601691#61"
"00432912" "" "" "" "1" "" "04473" "Bianco 2023, submitted" "" "F" "no" "Italy" "" "" "" "" "" "601691#62"
"00432913" "" "" "" "1" "" "04473" "Bianco 2023, submitted" "" "F" "no" "Italy" "" "" "" "" "" "601691#63"
"00432914" "" "" "" "1" "" "04473" "Bianco 2023, submitted" "" "F" "no" "Italy" "" "" "" "" "" "601691#64"
"00432915" "" "" "" "1" "" "04473" "Bianco 2023, submitted" "" "F" "no" "Italy" "" "" "" "" "" "601691#65"
"00432916" "" "" "" "1" "" "04473" "Bianco 2023, submitted" "" "M" "no" "Italy" "" "" "" "" "" "601691#66"
"00432917" "" "" "" "1" "" "04473" "Bianco 2023, submitted" "" "F" "no" "Italy" "" "" "" "" "" "601691#67"
"00432918" "" "" "" "1" "" "04473" "Bianco 2023, submitted" "" "F" "no" "Italy" "" "" "" "" "" "601691#68"
"00432919" "" "" "" "1" "" "04473" "Bianco 2023, submitted" "" "F" "no" "Italy" "" "" "" "" "" "601691#69"
"00432920" "" "" "" "1" "" "04473" "Bianco 2023, submitted" "" "M" "no" "Italy" "" "" "" "" "" "601691#70"
"00432921" "" "" "" "1" "" "04473" "Bianco 2023, submitted" "" "F" "no" "Italy" "" "" "" "" "" "601691#71"
"00435103" "" "" "" "1" "" "04300" "" "" "" "" "Mexico" "" "" "" "1" "" ""
"00435104" "" "" "" "1" "" "04300" "" "" "" "" "Mexico" "" "0" "" "" "" ""
"00435105" "" "" "" "1" "" "04300" "" "" "" "" "" "" "" "" "" "" ""
"00435116" "" "" "" "2" "" "04506" "{PMID:Rodríguez-Hidalgo 2023:37779911}, {DOI:Rodríguez-Hidalgo 2023:10.3389/fgene.2023.1234032}" "3-generation family, 2 affected (brother/sister), unaffected heterozygous parents/relatives" "F" "no" "Spain" "" "0" "" "" "" "FamAPatII6"
"00435118" "" "" "" "1" "" "04506" "{PMID:Rodríguez-Hidalgo 2023:37779911}, {DOI:Rodríguez-Hidalgo 2023:10.3389/fgene.2023.1234032}" "2-generation family, 1 affected, unaffected heterozygous father/brother" "F" "no" "Spain" "" "0" "" "" "" "FamBPatII1"
"00435130" "" "" "" "1" "" "04473" "{PMID:Bianco 2023:36563963}" "" "F" "no" "Italy" "" "" "" "" "Italian" "II.1"
"00435134" "" "" "" "1" "" "04473" "{PMID:Bianco 2023:36563963}" "" "F" "no" "Italy" "" "" "" "" "Italian" "VI.1"
"00435135" "" "" "" "2" "" "04473" "{PMID:Bianco 2023:36563963}" "" "M" "no" "Italy" "" "" "" "" "Italian" "VII.1"
"00435138" "" "" "00435135" "1" "" "04473" "{PMID:Bianco 2023:36563963}" "" "M" "no" "Italy" "" "" "" "" "Italian" "VII.2"
"00435139" "" "" "" "1" "" "04473" "{PMID:Bianco 2023:36563963}" "" "M" "no" "Italy" "" "" "" "" "Italian" "VIII.1"
"00435464" "" "" "" "1" "" "00006" "{PMID:Sajan 2019:30478137}" "2-generation family, 1 affected, unaffected heterozygous parents" "?" "" "United States" "" "0" "" "" "" "Pat2"
"00435731" "" "" "" "1" "" "04536" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "F" "" "" "" "0" "" "" "" "Pat1"
"00435732" "" "" "" "1" "" "04536" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "F" "" "" "" "0" "" "" "" "Pat2"
"00435733" "" "" "" "1" "" "04536" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "M" "" "" "" "0" "" "" "" "Pat3"
"00435734" "" "" "" "1" "" "04536" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "F" "" "" "" "0" "" "" "" "Pat4"
"00435735" "" "" "" "1" "" "04536" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "F" "" "" "" "0" "" "" "" "Pat5"
"00435736" "" "" "" "1" "" "04536" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "M" "" "" "" "0" "" "" "" "Pat6"
"00435737" "" "" "" "1" "" "04536" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "F" "" "" "" "0" "" "" "" "Pat7"
"00435738" "" "" "" "1" "" "04536" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "F" "" "" "" "0" "" "" "" "Pat8"
"00435739" "" "" "" "1" "" "04536" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "F" "" "" "" "0" "" "" "" "Pat9"
"00435740" "" "" "" "1" "" "04536" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "M" "" "" "" "0" "" "" "" "Pat10"
"00435741" "" "" "" "1" "" "04536" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "M" "" "" "" "0" "" "" "" "Pat11"
"00435742" "" "" "" "1" "" "04536" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "M" "" "" "" "0" "" "" "" "Pat12"
"00435743" "" "" "" "1" "" "04536" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "M" "" "" "" "0" "" "" "" "Pat13"
"00435744" "" "" "" "1" "" "04536" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "F" "" "" "" "0" "" "" "" "Pat14"
"00435745" "" "" "" "1" "" "04536" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "F" "" "" "" "0" "" "" "" "Pat15"
"00435746" "" "" "" "1" "" "04536" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "M" "" "" "" "0" "" "" "" "Pat16"
"00435747" "" "" "" "1" "" "04536" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "M" "" "" "" "0" "" "" "" "Pat17"
"00435748" "" "" "" "1" "" "04536" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "F" "" "" "" "0" "" "" "" "Pat18"
"00435749" "" "" "" "1" "" "04536" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "F" "" "" "" "0" "" "" "" "Pat19"
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"00436446" "" "" "" "1" "" "04552" "Villafuerte-de la Cruz RA, et al., 2023. Submitted" "" "M" "no" "Mexico" "" "" "" "none" "Hispanic" "2820856"
"00436464" "" "" "" "1" "" "04552" "{PMID:Villafuerte-De la Cruz 2022:36051698}" "2-generation family, 1 affected, unaffected heterozygous parents" "F" "no" "(Mexico)" "" "0" "yes" "None" "Hispanic" "2355129"
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"00436467" "" "" "" "1" "" "04552" "Villafuerte-de la Cruz RA, et al., 2023. Submitted" "" "F" "no" "Mexico" "" "" "" "NONE" "Hispanic" "2479836"
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"00436471" "" "" "" "1" "" "04552" "Villafuerte-de la Cruz RA, et al., 2023. Submitted" "" "F" "no" "Mexico" "" "" "" "none" "Hispanic" "2694948"
"00436473" "" "" "" "1" "" "04552" "Villafuerte-de la Cruz RA, et al., 2023. Submitted" "" "F" "no" "(Mexico)" "" "" "" "none" "Hispanic" "2695001"
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"00436476" "" "" "" "1" "" "04552" "Villafuerte-de la Cruz RA, et al., 2023. Submitted" "" "M" "no" "Mexico" "" "" "" "none" "Hispanic" "2871601"
"00436477" "" "" "" "1" "" "04552" "Villafuerte-de la Cruz RA, et al., 2023. Submitted" "" "F" "no" "Mexico" "" "" "" "none" "Hispanic" "2899624"
"00436478" "" "" "" "1" "" "04552" "Villafuerte-de la Cruz RA, et al., 2023. Submitted" "" "F" "no" "(Mexico)" "" "" "" "none" "Hispanic" "2910469"
"00436479" "" "" "" "1" "" "04552" "Villafuerte-de la Cruz RA, et al., 2023. Submitted" "" "M" "no" "(Mexico)" "" "" "" "none" "Hispanic" "3607210"
"00436613" "" "" "" "1" "" "04552" "Villafuerte-de la Cruz RA, et al., 2023. Submitted" "" "F" "no" "Mexico" "" "" "" "None" "Hispanic" "2910535"
"00436614" "" "" "" "1" "" "04552" "Villafuerte-de la Cruz RA, et al., 2023. Submitted" "" "F" "" "Mexico" "" "" "" "None" "Hispanic" "3679815"
"00436676" "" "" "" "2" "" "00006" "{PMID:Corradi 2022:35475888}, {DOI:Corradi 2022: 10.1167/iovs.63.4.20}" "2-generation family, affected brother/sister, unaffected heterozygous parents" "M" "yes" "Israel" "" "0" "" "" "Bethlehem/Beit Fajjar" "FamSJH0003PatII1"
"00436677" "" "" "00436676" "1" "" "00006" "{PMID:Corradi 2022:35475888}, {DOI:Corradi 2022: 10.1167/iovs.63.4.20}" "sister" "F" "yes" "Israel" "" "0" "" "" "Bethlehem/Beit Fajjar" "FamSJH0003PatII2"
"00436678" "" "" "" "1" "" "00006" "{PMID:Corradi 2022:35475888}, {DOI:Corradi 2022: 10.1167/iovs.63.4.20}" "2-generation family, 1 affected, unaffected heterozygous parents" "F" "yes" "Israel" "" "0" "" "" "Hebron/Beit Ommar" "FamSJH0010PatII1"
"00436679" "" "" "" "1" "" "00006" "{PMID:Corradi 2022:35475888}, {DOI:Corradi 2022: 10.1167/iovs.63.4.20}" "2-generation family, affected brother/sister, unaffected heterozygous parents" "M" "yes" "Israel" "" "0" "" "" "Hebron/Sureef" "FamSJH0021PatII1"
"00436680" "" "" "" "1" "" "00006" "{PMID:Corradi 2022:35475888}, {DOI:Corradi 2022: 10.1167/iovs.63.4.20}" "sister" "F" "yes" "Israel" "" "0" "" "" "Hebron/Sureef" "FamSJH0021PatII2"
"00436681" "" "" "" "1" "" "00006" "{PMID:Corradi 2022:35475888}, {DOI:Corradi 2022: 10.1167/iovs.63.4.20}" "2-generation family, 1 affected, unaffected heterozygous parents" "F" "yes" "Israel" "" "0" "" "" "Bethlehem/Aida Camp" "FamSJH0048PatII1"
"00436682" "" "" "" "1" "" "00006" "{PMID:Corradi 2022:35475888}, {DOI:Corradi 2022: 10.1167/iovs.63.4.20}" "2-generation family, 2 affected brothers, unaffected heterozygous parents" "M" "yes" "Israel" "" "0" "" "" "Hebron/Dura" "FamSJH0100PatII1"
"00436683" "" "" "" "1" "" "00006" "{PMID:Corradi 2022:35475888}, {DOI:Corradi 2022: 10.1167/iovs.63.4.20}" "brother" "M" "yes" "Israel" "" "0" "" "" "Hebron/Dura" "FamSJH0100PatII2"
"00436684" "" "" "" "4" "" "00006" "{PMID:Corradi 2022:35475888}, {DOI:Corradi 2022: 10.1167/iovs.63.4.20}" "3-generation family, 4 affected (F, 3M), unaffected heterozygous parents" "M" "yes" "Israel" "" "0" "" "" "Hebron/Dura" "FamSJH0101PatII2"
"00436685" "" "" "00436684" "1" "" "00006" "{PMID:Corradi 2022:35475888}, {DOI:Corradi 2022: 10.1167/iovs.63.4.20}" "brother" "M" "yes" "Israel" "" "0" "" "" "Hebron/Dura" "FamSJH0101PatII3"
"00436686" "" "" "00436684" "1" "" "00006" "{PMID:Corradi 2022:35475888}, {DOI:Corradi 2022: 10.1167/iovs.63.4.20}" "brother" "M" "yes" "Israel" "" "0" "" "" "Hebron/Dura" "FamSJH0101PatII4"
"00436687" "" "" "00436684" "1" "" "00006" "{PMID:Corradi 2022:35475888}, {DOI:Corradi 2022: 10.1167/iovs.63.4.20}" "daughter" "F" "yes" "Israel" "" "0" "" "" "Hebron/Dura" "FamSJH0101PatIII1"
"00436688" "" "" "" "1" "" "00006" "{PMID:Corradi 2022:35475888}, {DOI:Corradi 2022: 10.1167/iovs.63.4.20}" "3-generation family, 1 affected, unaffected heterozygous parents" "F" "yes" "Israel" "" "0" "" "" "Bethlehem/Husan" "FamSJH0102PatIII1"
"00436689" "" "" "" "4" "" "00006" "{PMID:Corradi 2022:35475888}, {DOI:Corradi 2022: 10.1167/iovs.63.4.20}" "2-generation family, 4 affected brothers, unaffected heterozygous parents" "M" "" "Israel" "" "0" "" "" "Hebron/Sureef" "FamSJH0103PatII1"
"00436690" "" "" "00436689" "1" "" "00006" "{PMID:Corradi 2022:35475888}, {DOI:Corradi 2022: 10.1167/iovs.63.4.20}" "brother" "M" "" "Israel" "" "0" "" "" "Hebron/Sureef" "FamSJH0103PatII2"
"00436691" "" "" "00436689" "1" "" "00006" "{PMID:Corradi 2022:35475888}, {DOI:Corradi 2022: 10.1167/iovs.63.4.20}" "brother" "M" "" "Israel" "" "0" "" "" "Hebron/Sureef" "FamSJH0103PatII3"
"00436692" "" "" "00436689" "1" "" "00006" "{PMID:Corradi 2022:35475888}, {DOI:Corradi 2022: 10.1167/iovs.63.4.20}" "brother" "M" "" "Israel" "" "0" "" "" "Hebron/Sureef" "FamSJH0103PatII4"
"00436693" "" "" "" "1" "" "00006" "{PMID:Corradi 2022:35475888}, {DOI:Corradi 2022: 10.1167/iovs.63.4.20}" "2-generation family, 1 affected, unaffected heterozygous parents" "F" "yes" "Israel" "" "0" "" "" "Hebron/Sureef" "FamSJH0125PatII1"
"00436694" "" "" "" "1" "" "00006" "{PMID:Corradi 2022:35475888}, {DOI:Corradi 2022: 10.1167/iovs.63.4.20}" "2-generation family, 1 affected, unaffected heterozygous parents" "F" "yes" "Israel" "" "0" "" "" "Bethlehem/Tqou\'" "FamSJH0133PatII1"
"00436695" "" "" "" "3" "" "00006" "{PMID:Corradi 2022:35475888}, {DOI:Corradi 2022: 10.1167/iovs.63.4.20}" "2-generation family, 3 affected (F, 2M), unaffected heterozygous parents" "M" "" "Israel" "" "0" "" "" "Hebron/Sureef" "FamSJH0195PatII1"
"00436696" "" "" "00436695" "1" "" "00006" "{PMID:Corradi 2022:35475888}, {DOI:Corradi 2022: 10.1167/iovs.63.4.20}" "brother" "M" "" "Israel" "" "0" "" "" "Hebron/Sureef" "FamSJH0195PatII2"
"00436697" "" "" "00436695" "1" "" "00006" "{PMID:Corradi 2022:35475888}, {DOI:Corradi 2022: 10.1167/iovs.63.4.20}" "sister" "F" "" "Israel" "" "0" "" "" "Hebron/Sureef" "FamSJH0195PatII3"
"00436698" "" "" "" "1" "" "00006" "{PMID:Corradi 2022:35475888}, {DOI:Corradi 2022: 10.1167/iovs.63.4.20}" "2-generation family, 1 affected, unaffected heterozygous parents" "M" "yes" "Israel" "" "0" "" "" "Bethlehem/Ertas" "FamSJH0216PatII1"
"00436699" "" "" "" "1" "" "00006" "{PMID:Corradi 2022:35475888}, {DOI:Corradi 2022: 10.1167/iovs.63.4.20}" "2-generation family, 1 affected, unaffected heterozygous parents" "M" "yes" "Israel" "" "0" "" "" "Hebron/Beit Ommar" "FamSJH0228PatII1"
"00436700" "" "" "" "1" "" "00006" "{PMID:Corradi 2022:35475888}, {DOI:Corradi 2022: 10.1167/iovs.63.4.20}" "2-generation family, 1 affected, unaffected heterozygous parents" "F" "" "Israel" "" "0" "" "" "Hebron/Sureef" "FamSJH0243PatII1"
"00436701" "" "" "" "1" "" "00006" "{PMID:Corradi 2022:35475888}, {DOI:Corradi 2022: 10.1167/iovs.63.4.20}" "2-generation family, 1 affected, unaffected heterozygous parents" "M" "yes" "Israel" "" "0" "" "" "Hebron/Dura" "FamSJH0255PatII1"
"00436702" "" "" "" "2" "" "00006" "{PMID:Corradi 2022:35475888}, {DOI:Corradi 2022: 10.1167/iovs.63.4.20}" "2-generation family, affected father/daughter" "F" "yes" "Israel" "" "0" "" "" "Hebron/Dura" "FamSJH0265PatII1"
"00436703" "" "" "" "1" "" "00006" "{PMID:Corradi 2022:35475888}, {DOI:Corradi 2022: 10.1167/iovs.63.4.20}" "2-generation family, 1 affected, unaffected heterozygous parents" "F" "yes" "Israel" "" "0" "" "" "Bethlehem/Aida Camp" "FamSJH0268PatII1"
"00436704" "" "" "" "1" "" "00006" "{PMID:Corradi 2022:35475888}, {DOI:Corradi 2022: 10.1167/iovs.63.4.20}" "2-generation family, 1 affected, unaffected heterozygous parents" "M" "" "Israel" "" "0" "" "" "Hebron/Dura" "FamSJH0297PatII1"
"00436705" "" "" "" "2" "" "00006" "{PMID:Corradi 2022:35475888}, {DOI:Corradi 2022: 10.1167/iovs.63.4.20}" "2-generation family, 2 affected sisters, unaffected heterozygous parents" "F" "yes" "Israel" "" "0" "" "" "Hebron/Sureef" "FamSJH0351PatII1"
"00436706" "" "" "00436705" "1" "" "00006" "{PMID:Corradi 2022:35475888}, {DOI:Corradi 2022: 10.1167/iovs.63.4.20}" "sister" "F" "yes" "Israel" "" "0" "" "" "Hebron/Sureef" "FamSJH0351PatII2"
"00436707" "" "" "" "1" "" "00006" "{PMID:Corradi 2022:35475888}, {DOI:Corradi 2022: 10.1167/iovs.63.4.20}" "2-generation family, 1 affected, unaffected heterozygous parents" "F" "" "Israel" "" "0" "" "" "Hebron/Dura" "FamSJH0385PatII1"
"00436708" "" "" "" "1" "" "00006" "{PMID:Corradi 2022:35475888}, {DOI:Corradi 2022: 10.1167/iovs.63.4.20}" "2-generation family, 1 affected, unaffected heterozygous parents" "M" "yes" "Israel" "" "0" "" "" "Hebron/Dura" "FamSJH0459PatII1"
"00436709" "" "" "" "2" "" "00006" "{PMID:Corradi 2022:35475888}, {DOI:Corradi 2022: 10.1167/iovs.63.4.20}" "2-generation family, 1 affected, unaffected heterozygous parents" "F" "no" "Israel" "" "0" "" "" "Hebron/Sureef" "FamSJH0461PatI1"
"00436710" "" "" "00436709" "1" "" "00006" "{PMID:Corradi 2022:35475888}, {DOI:Corradi 2022: 10.1167/iovs.63.4.20}" "daughter" "F" "" "Israel" "" "0" "" "" "Hebron/Sureef" "FamSJH0461PatII1"
"00436711" "" "" "" "1" "" "00006" "{PMID:Corradi 2022:35475888}, {DOI:Corradi 2022: 10.1167/iovs.63.4.20}" "2-generation family, 1 affected, unaffected heterozygous parents" "M" "yes" "Israel" "" "0" "" "" "Hebron" "FamMOL0003PatII1"
"00436712" "" "" "" "2" "" "00006" "{PMID:Corradi 2022:35475888}, {DOI:Corradi 2022: 10.1167/iovs.63.4.20}" "2-generation family, affected brother/sister, unaffected heterozygous parents" "M" "yes" "Israel" "" "0" "" "" "Jerusalem" "FamMOL0136PatII1"
"00436713" "" "" "00436712" "1" "" "00006" "{PMID:Corradi 2022:35475888}, {DOI:Corradi 2022: 10.1167/iovs.63.4.20}" "sister" "F" "yes" "Israel" "" "0" "" "" "Jerusalem" "FamMOL0136PatII2"
"00436714" "" "" "" "1" "" "00006" "{PMID:Corradi 2022:35475888}, {DOI:Corradi 2022: 10.1167/iovs.63.4.20}" "2-generation family, 1 affected, unaffected heterozygous parents" "F" "yes" "Israel" "" "0" "" "" "Hebron/Dura" "FamMOL0419PatII1"
"00436715" "" "" "" "1" "" "00006" "{PMID:Corradi 2022:35475888}, {DOI:Corradi 2022: 10.1167/iovs.63.4.20}" "2-generation family, 1 affected, unaffected heterozygous parents" "M" "no" "Israel" "" "0" "" "" "Hebron/Dura" "FamMOL0497PatII1"
"00436716" "" "" "" "2" "" "00006" "{PMID:Corradi 2022:35475888}, {DOI:Corradi 2022: 10.1167/iovs.63.4.20}" "2-generation family, affected brother/sister, unaffected heterozygous parents" "M" "yes" "Israel" "" "0" "" "" "Jerusalem" "FamMOL0844PatII1"
"00436717" "" "" "00436716" "1" "" "00006" "{PMID:Corradi 2022:35475888}, {DOI:Corradi 2022: 10.1167/iovs.63.4.20}" "sister" "F" "yes" "Israel" "" "0" "" "" "Jerusalem" "FamMOL0844PatII2"
"00436718" "" "" "" "3" "" "00006" "{PMID:Corradi 2022:35475888}, {DOI:Corradi 2022: 10.1167/iovs.63.4.20}" "3-generation family, 3 affected (2F, M), unaffected heterozygous parents" "F" "yes" "Israel" "" "0" "" "" "Hebron/Dura" "FamMOL1066PatIII1"
"00436719" "" "" "00436718" "1" "" "00006" "{PMID:Corradi 2022:35475888}, {DOI:Corradi 2022: 10.1167/iovs.63.4.20}" "relative" "M" "yes" "Israel" "" "0" "" "" "Hebron/Dura" "FamMOL1066PatIII4"
"00436720" "" "" "00436718" "1" "" "00006" "{PMID:Corradi 2022:35475888}, {DOI:Corradi 2022: 10.1167/iovs.63.4.20}" "relative" "F" "yes" "Israel" "" "0" "" "" "Hebron/Dura" "FamMOL1066PatIII5"
"00436721" "" "" "" "5" "" "00006" "{PMID:Corradi 2022:35475888}, {DOI:Corradi 2022: 10.1167/iovs.63.4.20}" "3-generation family, 5 affected (F, 4M), unaffected heterozygous parents" "M" "yes" "Israel" "" "0" "" "" "Hebron/Beit Ommar" "FamMOL1216PatIII2"
"00436722" "" "" "00436721" "1" "" "00006" "{PMID:Corradi 2022:35475888}, {DOI:Corradi 2022: 10.1167/iovs.63.4.20}" "relative" "M" "yes" "Israel" "" "0" "" "" "Hebron/Beit Ommar" "FamMOL1216PatIII3"
"00436723" "" "" "00436721" "1" "" "00006" "{PMID:Corradi 2022:35475888}, {DOI:Corradi 2022: 10.1167/iovs.63.4.20}" "relative" "M" "yes" "Israel" "" "0" "" "" "Hebron/Beit Ommar" "FamMOL1216PatIII1"
"00436724" "" "" "00436721" "1" "" "00006" "{PMID:Corradi 2022:35475888}, {DOI:Corradi 2022: 10.1167/iovs.63.4.20}" "relative" "M" "yes" "Israel" "" "0" "" "" "Hebron/Beit Ommar" "FamMOL1216PatIII4"
"00436725" "" "" "00436721" "1" "" "00006" "{PMID:Corradi 2022:35475888}, {DOI:Corradi 2022: 10.1167/iovs.63.4.20}" "relative" "F" "yes" "Israel" "" "0" "" "" "Hebron/Beit Ommar" "FamMOL1216PatIII5"
"00436726" "" "" "" "2" "" "00006" "{PMID:Corradi 2022:35475888}, {DOI:Corradi 2022: 10.1167/iovs.63.4.20}" "2-generation family, 2 affected brothers, unaffected heterozygous parents" "M" "yes" "Israel" "" "0" "" "" "Jerusalem" "FamMOL1417PatII1"
"00436727" "" "" "00436726" "1" "" "00006" "{PMID:Corradi 2022:35475888}, {DOI:Corradi 2022: 10.1167/iovs.63.4.20}" "brother" "M" "yes" "Israel" "" "0" "" "" "Jerusalem" "FamMOL1417PatII2"
"00436728" "" "" "" "2" "" "00006" "{PMID:Corradi 2022:35475888}, {DOI:Corradi 2022: 10.1167/iovs.63.4.20}" "3-generation family, 2 affected (2M), unaffected heterozygous parents" "M" "yes" "Israel" "" "0" "" "" "Washington DC" "FamNEI1PatIII1"
"00436729" "" "" "00436728" "1" "" "00006" "{PMID:Corradi 2022:35475888}, {DOI:Corradi 2022: 10.1167/iovs.63.4.20}" "relative" "M" "yes" "Israel" "" "0" "" "" "Washington DC" "FamNEI1PatIII2"
"00436730" "" "" "" "1" "" "00006" "{PMID:Corradi 2022:35475888}, {DOI:Corradi 2022: 10.1167/iovs.63.4.20}" "2-generation family, 1 affected, unaffected heterozygous parents" "M" "no" "Israel" "" "0" "" "" "Washington DC" "FamNEI2PatII1"
"00436731" "" "" "" "1" "" "00006" "{PMID:Corradi 2022:35475888}, {DOI:Corradi 2022: 10.1167/iovs.63.4.20}" "2-generation family, 1 affected, unaffected heterozygous parents" "M" "no" "Israel" "" "0" "" "" "Toronto" "Fam072537PatII1"
"00438985" "" "" "" "1" "" "01251" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "France" "" "0" "" "" "" "L-0001"
"00438986" "" "" "" "1" "" "01251" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "France" "" "0" "" "" "" "L-0002"
"00438987" "" "" "" "1" "" "01251" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "France" "" "0" "" "" "" "L-0003"
"00438988" "" "" "" "1" "" "01251" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "France" "" "0" "" "" "" "L-0004"
"00438989" "" "" "" "1" "" "01251" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "France" "" "0" "" "" "" "L-0005"
"00438990" "" "" "" "1" "" "01251" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "France" "" "0" "" "" "" "L-0006"
"00438991" "" "" "" "1" "" "01251" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "France" "" "0" "" "" "" "L-0007"
"00438992" "" "" "" "1" "" "01251" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "France" "" "0" "" "" "" "L-0008"
"00438993" "" "" "" "1" "" "01251" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "France" "" "0" "" "" "" "L-0009"
"00438994" "" "" "" "1" "" "01251" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "France" "" "0" "" "" "" "L-0010"
"00438995" "" "" "" "1" "" "01251" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "France" "" "0" "" "" "" "L-0011"
"00438996" "" "" "" "1" "" "01251" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "France" "" "0" "" "" "" "L-0012"
"00438997" "" "" "" "1" "" "01251" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "France" "" "0" "" "" "" "L-0013"
"00438998" "" "" "" "1" "" "01251" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "France" "" "0" "" "" "" "L-0014"
"00438999" "" "" "" "1" "" "01251" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "France" "" "0" "" "" "" "L-0015"
"00439000" "" "" "" "1" "" "01251" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "France" "" "0" "" "" "" "L-0016"
"00439001" "" "" "" "1" "" "01251" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "France" "" "0" "" "" "" "L-0017"
"00439002" "" "" "" "1" "" "01251" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "France" "" "0" "" "" "" "L-0018"
"00439003" "" "" "" "1" "" "01251" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "France" "" "0" "" "" "" "L-0019"
"00439004" "" "" "" "1" "" "01251" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "France" "" "0" "" "" "" "L-0020"
"00439005" "" "" "" "1" "" "01251" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "France" "" "0" "" "" "" "L-0021"
"00439006" "" "" "" "1" "" "01251" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "France" "" "0" "" "" "" "L-0022"
"00439007" "" "" "" "1" "" "01251" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "France" "" "0" "" "" "" "L-0023"
"00439008" "" "" "" "1" "" "01251" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "France" "" "0" "" "" "" "L-0024"
"00439009" "" "" "" "1" "" "01251" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "France" "" "0" "" "" "" "L-0025"
"00439010" "" "" "" "1" "" "01251" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "France" "" "0" "" "" "" "L-0026"
"00439011" "" "" "" "1" "" "01251" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "France" "" "0" "" "" "" "L-0027"
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"00440010" "" "" "" "1" "" "01251" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "France" "" "0" "" "" "" "L-1026"
"00440011" "" "" "" "1" "" "01251" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "France" "" "0" "" "" "" "L-1027"
"00440012" "" "" "" "1" "" "01251" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "France" "" "0" "" "" "" "L-1028"
"00440013" "" "" "" "1" "" "01251" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "France" "" "0" "" "" "" "L-1029"
"00440014" "" "" "" "1" "" "01251" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "France" "" "0" "" "" "" "L-1030"
"00440015" "" "" "" "1" "" "01251" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "France" "" "0" "" "" "" "L-1031"
"00440016" "" "" "" "1" "" "01251" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "France" "" "0" "" "" "" "L-1032"
"00440017" "" "" "" "1" "" "01251" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "France" "" "0" "" "" "" "L-1033"
"00440018" "" "" "" "1" "" "01251" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "France" "" "0" "" "" "" "L-1034"
"00440019" "" "" "" "1" "" "01251" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "France" "" "0" "" "" "" "L-1035"
"00440020" "" "" "" "1" "" "01251" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "France" "" "0" "" "" "" "L-1036"
"00440021" "" "" "" "1" "" "01251" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "France" "" "0" "" "" "" "L-1037"
"00440022" "" "" "" "1" "" "01251" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "France" "" "0" "" "" "" "L-1038"
"00440023" "" "" "" "1" "" "01251" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "France" "" "0" "" "" "" "L-1039"
"00440024" "" "" "" "1" "" "01251" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "France" "" "0" "" "" "" "L-1040"
"00440025" "" "" "" "1" "" "01251" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "France" "" "0" "" "" "" "L-1041"
"00440026" "" "" "" "1" "" "01251" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "France" "" "0" "" "" "" "L-1042"
"00440027" "" "" "" "1" "" "01251" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "France" "" "0" "" "" "" "L-1043"
"00440028" "" "" "" "1" "" "01251" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "France" "" "0" "" "" "" "L-1044"
"00440029" "" "" "" "1" "" "01251" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "France" "" "0" "" "" "" "L-1045"
"00440030" "" "" "" "1" "" "01251" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "France" "" "0" "" "" "" "L-1046"
"00440031" "" "" "" "1" "" "01251" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "France" "" "0" "" "" "" "L-1047"
"00440032" "" "" "" "1" "" "01251" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "France" "" "0" "" "" "" "L-1048"
"00440033" "" "" "" "1" "" "01251" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "France" "" "0" "" "" "" "L-1049"
"00440034" "" "" "" "1" "" "01251" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "France" "" "0" "" "" "" "L-1050"
"00440035" "" "" "" "1" "" "01251" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "France" "" "0" "" "" "" "L-1051"
"00440036" "" "" "" "1" "" "01251" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "France" "" "0" "" "" "" "L-1052"
"00440037" "" "" "" "1" "" "01251" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "France" "" "0" "" "" "" "L-1053"
"00440038" "" "" "" "1" "" "01251" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "France" "" "0" "" "" "" "L-1054"
"00440039" "" "" "" "1" "" "01251" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "France" "" "0" "" "" "" "L-1055"
"00440040" "" "" "" "1" "" "01251" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "France" "" "0" "" "" "" "L-1056"
"00440041" "" "" "" "1" "" "01251" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "France" "" "0" "" "" "" "L-1057"
"00440042" "" "" "" "1" "" "01251" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "France" "" "0" "" "" "" "L-1058"
"00440043" "" "" "" "1" "" "01251" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "France" "" "0" "" "" "" "L-1059"
"00440044" "" "" "" "1" "" "01251" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "France" "" "0" "" "" "" "L-1060"
"00440045" "" "" "" "1" "" "01251" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "France" "" "0" "" "" "" "L-1061"
"00440046" "" "" "" "1" "" "01251" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "France" "" "0" "" "" "" "L-1062"
"00440047" "" "" "" "1" "" "01251" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "France" "" "0" "" "" "" "L-1063"
"00440048" "" "" "" "1" "" "01251" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "France" "" "0" "" "" "" "L-1064"
"00440049" "" "" "" "1" "" "01251" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "France" "" "0" "" "" "" "L-1065"
"00440050" "" "" "" "1" "" "01251" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "France" "" "0" "" "" "" "L-1066"
"00440051" "" "" "" "1" "" "01251" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "France" "" "0" "" "" "" "L-1067"
"00440052" "" "" "" "1" "" "01251" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "France" "" "0" "" "" "" "L-1068"
"00440053" "" "" "" "1" "" "01251" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "France" "" "0" "" "" "" "L-1069"
"00440054" "" "" "" "1" "" "01251" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "France" "" "0" "" "" "" "L-1070"
"00440055" "" "" "" "1" "" "01251" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "France" "" "0" "" "" "" "L-1071"
"00440056" "" "" "" "1" "" "01251" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "France" "" "0" "" "" "" "L-1072"
"00440057" "" "" "" "1" "" "01251" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "France" "" "0" "" "" "" "L-1073"
"00440058" "" "" "" "1" "" "01251" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "France" "" "0" "" "" "" "L-1074"
"00440059" "" "" "" "1" "" "01251" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "France" "" "0" "" "" "" "L-1075"
"00440060" "" "" "" "1" "" "01251" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "France" "" "0" "" "" "" "L-1076"
"00440061" "" "" "" "1" "" "01251" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "France" "" "0" "" "" "" "L-1077"
"00440062" "" "" "" "1" "" "01251" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "France" "" "0" "" "" "" "L-1078"
"00440063" "" "" "" "1" "" "01251" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "France" "" "0" "" "" "" "L-1079"
"00440064" "" "" "" "1" "" "01251" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "France" "" "0" "" "" "" "L-1080"
"00440065" "" "" "" "1" "" "01251" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "France" "" "0" "" "" "" "L-1081"
"00440066" "" "" "" "1" "" "01251" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "France" "" "0" "" "" "" "L-1082"
"00440067" "" "" "" "1" "" "01251" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "France" "" "0" "" "" "" "L-1083"
"00440068" "" "" "" "1" "" "01251" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "France" "" "0" "" "" "" "L-1084"
"00440069" "" "" "" "1" "" "01251" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "France" "" "0" "" "" "" "L-1085"
"00440070" "" "" "" "1" "" "01251" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "France" "" "0" "" "" "" "L-1086"
"00440071" "" "" "" "1" "" "01251" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "France" "" "0" "" "" "" "L-1087"
"00440072" "" "" "" "1" "" "01251" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "France" "" "0" "" "" "" "L-1088"
"00440073" "" "" "" "1" "" "01251" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "France" "" "0" "" "" "" "L-1089"
"00440074" "" "" "" "1" "" "01251" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "France" "" "0" "" "" "" "L-1090"
"00440075" "" "" "" "1" "" "01251" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "France" "" "0" "" "" "" "L-1091"
"00440076" "" "" "" "1" "" "01251" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "France" "" "0" "" "" "" "L-1092"
"00440077" "" "" "" "1" "" "01251" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "France" "" "0" "" "" "" "L-1093"
"00440078" "" "" "" "1" "" "01251" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "France" "" "0" "" "" "" "L-1094"
"00440079" "" "" "" "1" "" "01251" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "France" "" "0" "" "" "" "L-1095"
"00440080" "" "" "" "1" "" "01251" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "France" "" "0" "" "" "" "L-1096"
"00440081" "" "" "" "1" "" "01251" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "France" "" "0" "" "" "" "L-1097"
"00440082" "" "" "" "1" "" "01251" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "France" "" "0" "" "" "" "L-1098"
"00441793" "" "" "" "1" "" "04594" "" "" "M" "no" "Lebanon" "" "0" "" "" "" "F9:II.1"
"00441795" "" "" "" "1" "" "04594" "" "" "M" "yes" "Lebanon" "" "0" "" "" "" "F37:II.1"
"00441924" "" "" "" "1" "" "04594" "" "" "M" "no" "Lebanon" "" "" "" "" "" "F3:II.1"
"00441925" "" "" "" "1" "" "04594" "" "" "" "" "(Lebanon)" "" "" "" "" "" "F31:II.1"
"00441926" "" "" "" "1" "" "04594" "" "" "M" "yes" "Lebanon" "" "" "" "" "" "F41:II.1"
"00441927" "" "" "" "1" "" "04594" "" "" "F" "?" "Lebanon" "" "" "" "" "" "F56:II.1"
"00441928" "" "" "" "1" "" "04594" "" "" "M" "" "Lebanon" "" "" "" "" "" "F58:II.1"
"00444250" "" "" "" "1" "" "00006" "{PMID:Moon 2021:35052368}" "" "" "" "Korea" "" "0" "" "" "" "Pat1"
"00445448" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-1"
"00445449" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-2"
"00445450" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-3"
"00445451" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-1"
"00445452" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-4"
"00445453" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-5"
"00445454" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-2"
"00445455" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-6"
"00445456" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-7"
"00445457" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-8"
"00445458" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-3"
"00445459" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-9"
"00445460" "" "" "" "2" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "family, 2 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-10"
"00445461" "" "" "00445460" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "relative of MEH-nonmild-10" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-other-1"
"00445462" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-4"
"00445463" "" "" "" "2" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "family, 2 affected" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-other-2"
"00445464" "" "" "00445463" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "relative of MEH-other-2" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-11"
"00445465" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-12"
"00445466" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-13"
"00445467" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-14"
"00445468" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-5"
"00445469" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-other-3"
"00445470" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-15"
"00445471" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-6"
"00445472" "" "" "" "3" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "family, 3 affected" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-other-4"
"00445473" "" "" "00445472" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "relative of MEH-other-4, MEH-other-5" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-16"
"00445474" "" "" "00445472" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "relative of MEH-other-4, MEH-nonmild-16" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-other-5"
"00445475" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-17"
"00445476" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-18"
"00445477" "" "" "" "2" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "family, 2 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-other-6"
"00445478" "" "" "00445477" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "relative of MEH-other-6" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-19"
"00445479" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-20"
"00445480" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-21"
"00445481" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-22"
"00445482" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-7"
"00445483" "" "" "" "2" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "family, 2 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-other-7"
"00445484" "" "" "00445483" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "relative of MEH-other-7" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-8"
"00445485" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-23"
"00445486" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-24"
"00445487" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-9"
"00445488" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-10"
"00445489" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-11"
"00445490" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-12"
"00445491" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-25"
"00445492" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-26"
"00445493" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-13"
"00445494" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-27"
"00445495" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-28"
"00445496" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-29"
"00445497" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-14"
"00445498" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-30"
"00445499" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-31"
"00445500" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-32"
"00445501" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-33"
"00445502" "" "" "" "2" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "family, 2 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-other-8"
"00445503" "" "" "00445502" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "relative of MEH-other-8" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-15"
"00445504" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-34"
"00445505" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-other-9"
"00445506" "" "" "" "2" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "family, 2 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-other-10"
"00445507" "" "" "00445506" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "relative of MEH-other-10" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-35"
"00445508" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-36"
"00445509" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-16"
"00445510" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-37"
"00445511" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-other-11"
"00445512" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-38"
"00445513" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-39"
"00445514" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-40"
"00445515" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-17"
"00445516" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-18"
"00445517" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-41"
"00445518" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-42"
"00445519" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-43"
"00445520" "" "" "" "2" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "family, 2 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-other-12"
"00445521" "" "" "00445520" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "relative of MEH-other-12" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-44"
"00445522" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-45"
"00445523" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-46"
"00445524" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-47"
"00445525" "" "" "" "2" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "family, 2 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-other-13"
"00445526" "" "" "00445525" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "relative of MEH-other-13" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-48"
"00445527" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-19"
"00445528" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-49"
"00445529" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-50"
"00445530" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-51"
"00445531" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-52"
"00445532" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-53"
"00445533" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-20"
"00445534" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-other-14"
"00445535" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-54"
"00445536" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-21"
"00445537" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-55"
"00445538" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-22"
"00445539" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-23"
"00445540" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-56"
"00445541" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-24"
"00445542" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-57"
"00445543" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-58"
"00445544" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-25"
"00445545" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-26"
"00445546" "" "" "" "2" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "family, 2 affected" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-other-15"
"00445547" "" "" "00445546" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "relative of MEH-other-15" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-59"
"00445548" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-27"
"00445549" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-28"
"00445550" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-60"
"00445551" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-61"
"00445552" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-29"
"00445553" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-other-16"
"00445554" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-62"
"00445555" "" "" "" "2" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "family, 2 affected" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-other-17"
"00445556" "" "" "00445555" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "relative of MEH-other-17" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-63"
"00445557" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-30"
"00445558" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-31"
"00445559" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-64"
"00445560" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-other-18"
"00445561" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-32"
"00445562" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-33"
"00445563" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-65"
"00445564" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-66"
"00445565" "" "" "" "2" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "family, 2 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-67"
"00445566" "" "" "00445565" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "relative of MEH-nonmild-67" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-other-19"
"00445567" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-34"
"00445568" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-68"
"00445569" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-other-20"
"00445570" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-69"
"00445571" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-70"
"00445572" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-71"
"00445573" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-35"
"00445574" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-36"
"00445575" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-37"
"00445576" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-72"
"00445577" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-38"
"00445578" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-73"
"00445579" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-39"
"00445580" "" "" "" "2" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "family, 2 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-74"
"00445581" "" "" "00445580" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "relative of MEH-nonmild-74" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-other-21"
"00445582" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-40"
"00445583" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-41"
"00445584" "" "" "" "2" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "family, 2 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-42"
"00445585" "" "" "00445584" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "relative of MEH-mild-42" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-other-22"
"00445586" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-75"
"00445587" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-76"
"00445588" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-other-23"
"00445589" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-77"
"00445590" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-43"
"00445591" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-78"
"00445592" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-44"
"00445593" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-45"
"00445594" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-79"
"00445595" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-46"
"00445596" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-other-24"
"00445597" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-80"
"00445598" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-81"
"00445599" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-82"
"00445600" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-83"
"00445601" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-84"
"00445602" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-85"
"00445603" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-86"
"00445604" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-87"
"00445605" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-47"
"00445606" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-88"
"00445607" "" "" "" "2" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "family, 2 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-other-25"
"00445608" "" "" "00445607" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "relative of MEH-other-25" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-48"
"00445609" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-89"
"00445610" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-90"
"00445611" "" "" "" "2" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "family, 2 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-other-26"
"00445612" "" "" "00445611" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "relative of MEH-other-26" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-91"
"00445613" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-49"
"00445614" "" "" "" "2" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "family, 2 affected" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-92"
"00445615" "" "" "00445614" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "relative of MEH-nonmild-92" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-other-27"
"00445616" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-93"
"00445617" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-94"
"00445618" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-95"
"00445619" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-96"
"00445620" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-97"
"00445621" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-98"
"00445622" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-50"
"00445623" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-99"
"00445624" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-100"
"00445625" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-51"
"00445626" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-52"
"00445627" "" "" "" "2" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "family, 2 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-other-28"
"00445628" "" "" "00445627" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "relative of MEH-other-28" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-53"
"00445629" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-101"
"00445630" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-54"
"00445631" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-102"
"00445632" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-103"
"00445633" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-55"
"00445634" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-104"
"00445635" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-105"
"00445636" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-106"
"00445637" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-56"
"00445638" "" "" "" "2" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "family, 2 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-107"
"00445639" "" "" "00445638" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "relative of MEH-nonmild-107" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-other-29"
"00445640" "" "" "" "2" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "family, 2 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-108"
"00445641" "" "" "00445640" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "relative of MEH-nonmild-108" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-other-30"
"00445642" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-57"
"00445643" "" "" "" "2" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "family, 2 affected" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-58"
"00445644" "" "" "00445643" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "relative of MEH-mild-58" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-other-31"
"00445645" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-109"
"00445646" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-59"
"00445647" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-110"
"00445648" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-111"
"00445649" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-112"
"00445650" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-113"
"00445651" "" "" "" "2" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "family, 2 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-other-32"
"00445652" "" "" "00445651" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "relative of MEH-other-32" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-114"
"00445653" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-115"
"00445654" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-116"
"00445655" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-other-33"
"00445656" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-60"
"00445657" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-117"
"00445658" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-118"
"00445659" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-61"
"00445660" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-62"
"00445661" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-63"
"00445662" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-119"
"00445663" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-other-34"
"00445664" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-other-35"
"00445665" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-120"
"00445666" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-64"
"00445667" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-121"
"00445668" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-65"
"00445669" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-122"
"00445670" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-66"
"00445671" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-67"
"00445672" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-68"
"00445673" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-69"
"00445674" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-70"
"00445675" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-71"
"00445676" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-123"
"00445677" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-124"
"00445678" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-other-36"
"00445679" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-125"
"00445680" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-72"
"00445681" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-126"
"00445682" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-73"
"00445683" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-127"
"00445684" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-128"
"00445685" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-74"
"00445686" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-75"
"00445687" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-129"
"00445688" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-130"
"00445689" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-76"
"00445690" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-131"
"00445691" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-77"
"00445692" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-132"
"00445693" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-other-37"
"00445694" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-133"
"00445695" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-134"
"00445696" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-135"
"00445697" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-136"
"00445698" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-137"
"00445699" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-78"
"00445700" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-138"
"00445701" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-79"
"00445702" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-80"
"00445703" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-81"
"00445704" "" "" "" "2" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "family, 2 affected" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-139"
"00445705" "" "" "00445704" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "relative of MEH-nonmild-139" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-other-38"
"00445706" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-140"
"00445707" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-82"
"00445708" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-83"
"00445709" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-141"
"00445710" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-142"
"00445711" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-143"
"00445712" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-84"
"00445713" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-144"
"00445714" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-145"
"00445715" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-85"
"00445716" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-86"
"00445717" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-87"
"00445718" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-88"
"00445719" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-other-39"
"00445720" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-146"
"00445721" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-147"
"00445722" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-148"
"00445723" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-149"
"00445724" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-150"
"00445725" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-151"
"00445726" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-152"
"00445727" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-153"
"00445728" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-89"
"00445729" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-90"
"00445730" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-91"
"00445731" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-154"
"00445732" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-92"
"00445733" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-93"
"00445734" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-94"
"00445735" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-95"
"00445736" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-155"
"00445737" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-96"
"00445738" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-97"
"00445739" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-156"
"00445740" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-other-40"
"00445741" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-other-41"
"00445742" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-157"
"00445743" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-158"
"00445744" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-159"
"00445745" "" "" "" "2" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "family, 3 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-other-42"
"00445746" "" "" "00445745" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "relative of MEH-other-42, MEH-other-43" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-160"
"00445747" "" "" "00445745" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "relative of MEH-other-42, MEH-nonmild-160" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-other-43"
"00445748" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-98"
"00445749" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-161"
"00445750" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-162"
"00445751" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-163"
"00445752" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-99"
"00445753" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-164"
"00445754" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-165"
"00445755" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-166"
"00445756" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-other-44"
"00445757" "" "" "" "2" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "family, 2 affected" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-other-45"
"00445758" "" "" "00445757" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "relative of MEH-other-45" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-100"
"00445759" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-167"
"00445760" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-101"
"00445761" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-168"
"00445762" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-169"
"00445763" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-170"
"00445764" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-other-46"
"00445765" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-102"
"00445766" "" "" "" "4" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "family, 4 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-other-47"
"00445767" "" "" "00445766" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "relative of MEH-other-47, MEH-other-48, MEH-nonmild-172" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-171"
"00445768" "" "" "00445766" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "relative of MEH-nonmild-171, MEH-other-47, MEH-nonmild-172" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-other-48"
"00445769" "" "" "00445766" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "relative of MEH-nonmild-171, MEH-other-48, MEH-other-47" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-172"
"00445770" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-103"
"00445771" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-173"
"00445772" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-174"
"00445773" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-175"
"00445774" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-176"
"00445775" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-other-49"
"00445776" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-104"
"00445777" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-other-50"
"00445778" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-177"
"00445779" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-178"
"00445780" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-105"
"00445781" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-106"
"00445782" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-other-51"
"00445783" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-107"
"00445784" "" "" "" "2" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "family, 2 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-other-52"
"00445785" "" "" "00445784" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "relative of MEH-other-52" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-108"
"00445786" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-179"
"00445787" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-180"
"00445788" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-181"
"00445789" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-182"
"00445790" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-183"
"00445791" "" "" "" "2" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "family, 2 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-109"
"00445792" "" "" "00445791" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "relative of MEH-mild-109" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-other-53"
"00445793" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-110"
"00445794" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-184"
"00445795" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-111"
"00445796" "" "" "" "2" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "family, 2 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-other-54"
"00445797" "" "" "00445796" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "relative of MEH-other-54" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-185"
"00445798" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-other-55"
"00445799" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-186"
"00445800" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-187"
"00445801" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-188"
"00445802" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-112"
"00445803" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-113"
"00445804" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-other-56"
"00445805" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-189"
"00445806" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-114"
"00445807" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-190"
"00445808" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-115"
"00445809" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-191"
"00445810" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-other-57"
"00445811" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-192"
"00445812" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-193"
"00445813" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-194"
"00445814" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-195"
"00445815" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-116"
"00445816" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-117"
"00445817" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-118"
"00445818" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-119"
"00445819" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-196"
"00445820" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-120"
"00445821" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-121"
"00445822" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-197"
"00445823" "" "" "" "2" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "family, 2 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-198"
"00445824" "" "" "00445823" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "relative of MEH-nonmild-198" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-other-58"
"00445825" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-199"
"00445826" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-200"
"00445827" "" "" "" "2" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "family, 2 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-201"
"00445828" "" "" "00445827" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "relative of MEH-nonmild-201" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-other-59"
"00445829" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-122"
"00445830" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-202"
"00445831" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-203"
"00445832" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-123"
"00445833" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-204"
"00445834" "" "" "" "2" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "family, 2 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-other-60"
"00445835" "" "" "00445834" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "relative of MEH-other-60" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-124"
"00445836" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-205"
"00445837" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-125"
"00445838" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-206"
"00445839" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-207"
"00445840" "" "" "" "2" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "family, 2 affected" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-other-61"
"00445841" "" "" "00445840" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "relative of MEH-other-61" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-other-62"
"00445842" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-208"
"00445843" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-126"
"00445844" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-127"
"00445845" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-128"
"00445846" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-129"
"00445847" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-130"
"00445848" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-131"
"00445849" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-132"
"00445850" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-133"
"00445851" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-134"
"00445852" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-209"
"00445853" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-135"
"00445854" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-other-63"
"00445855" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-210"
"00445856" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-211"
"00445857" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-212"
"00445858" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-136"
"00445859" "" "" "" "2" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "family, 2 affected" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-213"
"00445860" "" "" "00445859" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "relative of MEH-nonmild-213" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-other-64"
"00445861" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-214"
"00445862" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-137"
"00445863" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-215"
"00445864" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-216"
"00445865" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-217"
"00445866" "" "" "" "2" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "family, 2 affected" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-other-65"
"00445867" "" "" "00445866" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "relative of MEH-other-65" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-138"
"00445868" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-other-66"
"00445869" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-218"
"00445870" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-219"
"00445871" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-139"
"00445872" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-220"
"00445873" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-221"
"00445874" "" "" "" "2" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "family, 2 affected" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-other-67"
"00445875" "" "" "00445874" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "relative of MEH-other-67" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-140"
"00445876" "" "" "" "2" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "family, 2 affected" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-141"
"00445877" "" "" "00445876" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "relative of MEH-mild-141" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-other-68"
"00445878" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-222"
"00445879" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-223"
"00445880" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-142"
"00445881" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-224"
"00445882" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-225"
"00445883" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-226"
"00445884" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-227"
"00445885" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-143"
"00445886" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-other-69"
"00445887" "" "" "" "2" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "family, 2 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-228"
"00445888" "" "" "00445887" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "relative of MEH-nonmild-228" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-other-70"
"00445889" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-144"
"00445890" "" "" "" "2" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "family, 2 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-145"
"00445891" "" "" "00445890" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "relative of MEH-mild-145" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-other-71"
"00445892" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-229"
"00445893" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-146"
"00445894" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-147"
"00445895" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-230"
"00445896" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-148"
"00445897" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-149"
"00445898" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-231"
"00445899" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-150"
"00445900" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-232"
"00445901" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-233"
"00445902" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-151"
"00445903" "" "" "" "2" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "family, 2 affected" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-234"
"00445904" "" "" "00445903" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "relative of MEH-nonmild-234" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-other-72"
"00445905" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-152"
"00445906" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-235"
"00445907" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-236"
"00445908" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-237"
"00445909" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-238"
"00445910" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-other-73"
"00445911" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-239"
"00445912" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-240"
"00445913" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-241"
"00445914" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-242"
"00445915" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-153"
"00445916" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-243"
"00445917" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-244"
"00445918" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-154"
"00445919" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-155"
"00445920" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-156"
"00445921" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-157"
"00445922" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-245"
"00445923" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-158"
"00445924" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-other-74"
"00445925" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-246"
"00445926" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-159"
"00445927" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-160"
"00445928" "" "" "" "2" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "family, 2 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-247"
"00445929" "" "" "00445928" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "relative of MEH-nonmild-247" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-other-75"
"00445930" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-248"
"00445931" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-249"
"00445932" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-250"
"00445933" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-161"
"00445934" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-251"
"00445935" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-162"
"00445936" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-252"
"00445937" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-163"
"00445938" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-164"
"00445939" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-165"
"00445940" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-253"
"00445941" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-166"
"00445942" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-254"
"00445943" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-255"
"00445944" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-167"
"00445945" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-256"
"00445946" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-other-76"
"00445947" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-168"
"00445948" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-257"
"00445949" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-other-77"
"00445950" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-169"
"00445951" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-170"
"00445952" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-258"
"00445953" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-259"
"00445954" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-171"
"00445955" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-172"
"00445956" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-260"
"00445957" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-261"
"00445958" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-173"
"00445959" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-262"
"00445960" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-263"
"00445961" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-174"
"00445962" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-264"
"00445963" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-other-78"
"00445964" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-265"
"00445965" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-266"
"00445966" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-267"
"00445967" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-268"
"00445968" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-269"
"00445969" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-175"
"00445970" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-270"
"00445971" "" "" "" "2" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "family, 2 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-other-79"
"00445972" "" "" "00445971" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "relative of MEH-other-79" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-271"
"00445973" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-176"
"00445974" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-272"
"00445975" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-273"
"00445976" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-177"
"00445977" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-274"
"00445978" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-178"
"00445979" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-275"
"00445980" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-276"
"00445981" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-179"
"00445982" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-180"
"00445983" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-277"
"00445984" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-278"
"00445985" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-279"
"00445986" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-181"
"00445987" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-182"
"00445988" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-183"
"00445989" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-184"
"00445990" "" "" "" "2" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "family, 2 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-280"
"00445991" "" "" "00445990" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "relative of MEH-nonmild-280" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-other-80"
"00445992" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-281"
"00445993" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-185"
"00445994" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-282"
"00445995" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-other-81"
"00445996" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-283"
"00445997" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-284"
"00445998" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-285"
"00445999" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-286"
"00446000" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-186"
"00446001" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-287"
"00446002" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-288"
"00446003" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-187"
"00446004" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-188"
"00446005" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-289"
"00446006" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-290"
"00446007" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-291"
"00446008" "" "" "" "2" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "family, 2 affected" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-other-82"
"00446009" "" "" "00446008" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "relative of MEH-other-82" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-189"
"00446010" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-292"
"00446011" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-293"
"00446012" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-190"
"00446013" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-294"
"00446014" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-295"
"00446015" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-296"
"00446016" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-191"
"00446017" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-192"
"00446018" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-297"
"00446019" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-298"
"00446020" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-299"
"00446021" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-300"
"00446022" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-301"
"00446023" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-other-83"
"00446024" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-302"
"00446025" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-303"
"00446026" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-193"
"00446027" "" "" "" "2" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "family, 2 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-194"
"00446028" "" "" "00446027" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "relative of MEH-mild-194" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-other-84"
"00446029" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-195"
"00446030" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-196"
"00446031" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-197"
"00446032" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-198"
"00446033" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-199"
"00446034" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-200"
"00446035" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-304"
"00446036" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-other-85"
"00446037" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-305"
"00446038" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-306"
"00446039" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-307"
"00446040" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-201"
"00446041" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-308"
"00446042" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-309"
"00446043" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-310"
"00446044" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-other-86"
"00446045" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-311"
"00446046" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-202"
"00446047" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-203"
"00446048" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-312"
"00446049" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-204"
"00446050" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-313"
"00446051" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-314"
"00446052" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-205"
"00446053" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-315"
"00446054" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-316"
"00446055" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-206"
"00446056" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-other-87"
"00446057" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-other-88"
"00446058" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-317"
"00446059" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-318"
"00446060" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-207"
"00446061" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-208"
"00446062" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-209"
"00446063" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-319"
"00446064" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-320"
"00446065" "" "" "" "2" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "family, 2 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-other-89"
"00446066" "" "" "00446065" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "relative of MEH-other-89" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-other-90"
"00446067" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-210"
"00446068" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-321"
"00446069" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-211"
"00446070" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-other-91"
"00446071" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-other-92"
"00446072" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-322"
"00446073" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-323"
"00446074" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-324"
"00446075" "" "" "" "2" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "family, 2 affected" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-other-93"
"00446076" "" "" "00446075" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "relative of MEH-other-93" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-325"
"00446077" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-212"
"00446078" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-other-94"
"00446079" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-213"
"00446080" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-326"
"00446081" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-214"
"00446082" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-215"
"00446083" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-327"
"00446084" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-other-95"
"00446085" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-216"
"00446086" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-217"
"00446087" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-218"
"00446088" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-328"
"00446089" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-329"
"00446090" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-330"
"00446091" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-219"
"00446092" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-220"
"00446093" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-331"
"00446094" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-332"
"00446095" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-221"
"00446096" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-333"
"00446097" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-222"
"00446098" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-223"
"00446099" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-334"
"00446100" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-335"
"00446101" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-336"
"00446102" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-337"
"00446103" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-other-96"
"00446104" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-224"
"00446105" "" "" "" "2" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "family, 2 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-225"
"00446106" "" "" "00446105" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "relative of MEH-mild-225" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-other-97"
"00446107" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-338"
"00446108" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-226"
"00446109" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-339"
"00446110" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-227"
"00446111" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-340"
"00446112" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-341"
"00446113" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-342"
"00446114" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-228"
"00446115" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-343"
"00446116" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-other-98"
"00446117" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-229"
"00446118" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-230"
"00446119" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-344"
"00446120" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-345"
"00446121" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-231"
"00446122" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-346"
"00446123" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-347"
"00446124" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-348"
"00446125" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-349"
"00446126" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-350"
"00446127" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-232"
"00446128" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-351"
"00446129" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-233"
"00446130" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-234"
"00446131" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-352"
"00446132" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-235"
"00446133" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-236"
"00446134" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-353"
"00446135" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-354"
"00446136" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-355"
"00446137" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-356"
"00446138" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-357"
"00446139" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-237"
"00446140" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-358"
"00446141" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-238"
"00446142" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-239"
"00446143" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-240"
"00446144" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-241"
"00446145" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-242"
"00446146" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-243"
"00446147" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-359"
"00446148" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-360"
"00446149" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-361"
"00446150" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-362"
"00446151" "" "" "" "2" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "family, 2 affected" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-363"
"00446152" "" "" "00446151" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "relative of MEH-nonmild-363" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-other-99"
"00446153" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-364"
"00446154" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-244"
"00446155" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-245"
"00446156" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-246"
"00446157" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-247"
"00446158" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-248"
"00446159" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-249"
"00446160" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-365"
"00446161" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-366"
"00446162" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-250"
"00446163" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-251"
"00446164" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-252"
"00446165" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-253"
"00446166" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-367"
"00446167" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-254"
"00446168" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-368"
"00446169" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-255"
"00446170" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-other-100"
"00446171" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-256"
"00446172" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-other-101"
"00446173" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-369"
"00446174" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-257"
"00446175" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-370"
"00446176" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-371"
"00446177" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-other-102"
"00446178" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-258"
"00446179" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-372"
"00446180" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-373"
"00446181" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-259"
"00446182" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-374"
"00446183" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-260"
"00446184" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-261"
"00446185" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-262"
"00446186" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-263"
"00446187" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-other-103"
"00446188" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-375"
"00446189" "" "" "" "2" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "family, 2 affected" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-other-104"
"00446190" "" "" "00446189" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "relative of MEH-other-104" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-264"
"00446191" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-265"
"00446192" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-266"
"00446193" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-267"
"00446194" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-376"
"00446195" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-268"
"00446196" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-377"
"00446197" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-269"
"00446198" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-270"
"00446199" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-378"
"00446200" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-379"
"00446201" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-271"
"00446202" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-380"
"00446203" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-272"
"00446204" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-273"
"00446205" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-274"
"00446206" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-381"
"00446207" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-382"
"00446208" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-383"
"00446209" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-384"
"00446210" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-385"
"00446211" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-386"
"00446212" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-275"
"00446213" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-276"
"00446214" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-277"
"00446215" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-278"
"00446216" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-387"
"00446217" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-279"
"00446218" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-280"
"00446219" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-388"
"00446220" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-389"
"00446221" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-281"
"00446222" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-390"
"00446223" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-391"
"00446224" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-282"
"00446225" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-392"
"00446226" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-393"
"00446227" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-283"
"00446228" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-284"
"00446229" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-285"
"00446230" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-394"
"00446231" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-395"
"00446232" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-286"
"00446233" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-287"
"00446234" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-396"
"00446235" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-288"
"00446236" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-397"
"00446237" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-289"
"00446238" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-290"
"00446239" "" "" "" "2" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "family, 2 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-other-105"
"00446240" "" "" "00446239" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "relative of MEH-other-105" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-398"
"00446241" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-291"
"00446242" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-399"
"00446243" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-400"
"00446244" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-401"
"00446245" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-292"
"00446246" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-402"
"00446247" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-403"
"00446248" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-293"
"00446249" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-404"
"00446250" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-405"
"00446251" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-other-106"
"00446252" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-406"
"00446253" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-407"
"00446254" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-408"
"00446255" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-409"
"00446256" "" "" "" "2" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "family, 2 affected" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-294"
"00446257" "" "" "00446256" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "relative of MEH-mild-294" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-other-107"
"00446258" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-295"
"00446259" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-410"
"00446260" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-411"
"00446261" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-296"
"00446262" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-412"
"00446263" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-297"
"00446264" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-298"
"00446265" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-413"
"00446266" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-299"
"00446267" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-414"
"00446268" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-300"
"00446269" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-301"
"00446270" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-415"
"00446271" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-302"
"00446272" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-303"
"00446273" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-416"
"00446274" "" "" "" "2" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "family, 2 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-304"
"00446275" "" "" "00446274" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "relative of MEH-mild-304" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-other-108"
"00446276" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-305"
"00446277" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-306"
"00446278" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-307"
"00446279" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-308"
"00446280" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-417"
"00446281" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-other-109"
"00446282" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-418"
"00446283" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-419"
"00446284" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-other-110"
"00446285" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-420"
"00446286" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-421"
"00446287" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-other-111"
"00446288" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-422"
"00446289" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-423"
"00446290" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-other-112"
"00446291" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-309"
"00446292" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-310"
"00446293" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-424"
"00446294" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-425"
"00446295" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-426"
"00446296" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-427"
"00446297" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-311"
"00446298" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-312"
"00446299" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-other-113"
"00446300" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-313"
"00446301" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-314"
"00446302" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-315"
"00446303" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-316"
"00446304" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-428"
"00446305" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-other-114"
"00446306" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-429"
"00446307" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-317"
"00446308" "" "" "" "2" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "family, 2 affected" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-430"
"00446309" "" "" "00446308" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "relative of MEH-nonmild-430" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-other-115"
"00446310" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-318"
"00446311" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-319"
"00446312" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-320"
"00446313" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-431"
"00446314" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-other-116"
"00446315" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-321"
"00446316" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-432"
"00446317" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-322"
"00446318" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-323"
"00446319" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-324"
"00446320" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-433"
"00446321" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-434"
"00446322" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-325"
"00446323" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-326"
"00446324" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-435"
"00446325" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-327"
"00446326" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-436"
"00446327" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-328"
"00446328" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-437"
"00446329" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-329"
"00446330" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-438"
"00446331" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-439"
"00446332" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-330"
"00446333" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-331"
"00446334" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-332"
"00446335" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-333"
"00446336" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-440"
"00446337" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-441"
"00446338" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-334"
"00446339" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-335"
"00446340" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-442"
"00446341" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-443"
"00446342" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-336"
"00446343" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-337"
"00446344" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-338"
"00446345" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-339"
"00446346" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-444"
"00446347" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-340"
"00446348" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-341"
"00446349" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-342"
"00446350" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-343"
"00446351" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-344"
"00446352" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-345"
"00446353" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-445"
"00446354" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-other-117"
"00446355" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-446"
"00446356" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-447"
"00446357" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-346"
"00446358" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-448"
"00446359" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-347"
"00446360" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-348"
"00446361" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-449"
"00446362" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-450"
"00446363" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-nonmild-451"
"00446364" "" "" "" "1" "" "01695" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MEH-mild-349"
"00446919" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "M" "" "Germany" "" "0" "" "" "" "ACHM-1291"
"00446920" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "F" "" "Germany" "" "0" "" "" "" "ACHM-1297"
"00446939" "" "" "" "4" "" "00006" "{PMID:Weisschuh 2024:37734845}" "family, >3 affected" "M" "" "Germany" "" "0" "" "" "" "ADRP-473"
"00446955" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient" "F" "" "Germany" "" "0" "" "" "" "ADRP-505"
"00446966" "" "" "" "2" "" "00006" "{PMID:Weisschuh 2024:37734845}" "family, 2 affected" "M" "" "Germany" "" "0" "" "" "" "ARRP-195"
"00447046" "" "" "" "2" "" "00006" "{PMID:Weisschuh 2024:37734845}" "family, 2 affected" "M" "" "Germany" "" "0" "" "" "" "CACD-25"
"00447047" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "F" "" "Germany" "" "0" "" "" "" "CACD-84"
"00447048" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "F" "" "Germany" "" "0" "" "" "" "CACD-85"
"00447053" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient" "F" "" "Germany" "" "0" "" "" "" "CD-557"
"00447056" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "F" "" "Germany" "" "0" "" "" "" "CD-620"
"00447076" "" "" "" "2" "" "00006" "{PMID:Weisschuh 2024:37734845}" "family, 2 affected" "M" "" "Germany" "" "0" "" "" "" "CRD-337"
"00447083" "" "" "" "2" "" "00006" "{PMID:Weisschuh 2024:37734845}" "family, 2 affected" "F" "" "Germany" "" "0" "" "" "" "CRD-770-1"
"00447084" "" "" "00447083" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "relative" "M" "" "Germany" "" "0" "" "" "" "CRD-770-2"
"00447085" "" "" "" "2" "" "00006" "{PMID:Weisschuh 2024:37734845}" "family, 2 affected" "F" "" "Germany" "" "0" "" "" "" "CRD-771"
"00447087" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "M" "" "Germany" "" "0" "" "" "" "CRD-773"
"00447089" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "F" "" "Germany" "" "0" "" "" "" "CRD-779"
"00447091" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "M" "" "Germany" "" "0" "" "" "" "CRD-784"
"00447092" "" "" "" "3" "" "00006" "{PMID:Weisschuh 2024:37734845}" "family, 3 affected" "M" "" "Germany" "" "0" "" "" "" "CRD-785"
"00447094" "" "" "" "4" "" "00006" "{PMID:Weisschuh 2024:37734845}" "family, >3 affected" "M" "" "Germany" "" "0" "" "" "" "CRD-787"
"00447096" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "M" "" "Germany" "" "0" "" "" "" "CRD-790"
"00447097" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "F" "" "Germany" "" "0" "" "" "" "CRD-795"
"00447100" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "M" "" "Germany" "" "0" "" "" "" "CRD-799"
"00447105" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient" "F" "" "Germany" "" "0" "" "" "" "CRD-815"
"00447107" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "M" "" "Germany" "" "0" "" "" "" "CRD-819"
"00447108" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "M" "" "Germany" "" "0" "" "" "" "CRD-820"
"00447111" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "F" "" "Germany" "" "0" "" "" "" "CRD-824"
"00447112" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "F" "" "Germany" "" "0" "" "" "" "CRD-825"
"00447113" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "F" "" "Germany" "" "0" "" "" "" "CRD-826"
"00447114" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient" "F" "" "Germany" "" "0" "" "" "" "CRD-827"
"00447115" "" "" "" "2" "" "00006" "{PMID:Weisschuh 2024:37734845}" "family, 2 affected" "M" "" "Germany" "" "0" "" "" "" "CRD-829"
"00447116" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "F" "" "Germany" "" "0" "" "" "" "CRD-830"
"00447117" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "M" "" "Germany" "" "0" "" "" "" "CRD-831"
"00447118" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient" "M" "" "Germany" "" "0" "" "" "" "CRD-837"
"00447122" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "F" "" "Germany" "" "0" "" "" "" "CRD-847"
"00447138" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "M" "" "Germany" "" "0" "" "" "" "LCA-129"
"00447152" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "M" "" "Germany" "" "0" "" "" "" "MDS-360"
"00447153" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "M" "" "Germany" "" "0" "" "" "" "MDS-383"
"00447154" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "M" "" "Germany" "" "0" "" "" "" "MDS-391"
"00447155" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "F" "" "Germany" "" "0" "" "" "" "MDS-396"
"00447160" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "F" "" "Germany" "" "0" "" "" "" "MDS-407"
"00447161" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "F" "" "Germany" "" "0" "" "" "" "MDS-408"
"00447162" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "F" "" "Germany" "" "0" "" "" "" "MDS-411"
"00447163" "" "" "" "2" "" "00006" "{PMID:Weisschuh 2024:37734845}" "family, 2 affected" "M" "" "Germany" "" "0" "" "" "" "MDS-413"
"00447165" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "M" "" "Germany" "" "0" "" "" "" "MDS-417"
"00447168" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "F" "" "Germany" "" "0" "" "" "" "MDS-426"
"00447173" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "F" "" "Germany" "" "0" "" "" "" "MDS-439"
"00447183" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient" "F" "" "Germany" "" "0" "" "" "" "MDS-457"
"00447185" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "M" "" "Germany" "" "0" "" "" "" "MDS-464"
"00447191" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "M" "" "Germany" "" "0" "" "" "" "MISC-243"
"00447199" "" "" "" "2" "" "00006" "{PMID:Weisschuh 2024:37734845}" "family, 2 affected" "M" "" "Germany" "" "0" "" "" "" "MISC-265"
"00447281" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "F" "" "Germany" "" "0" "" "" "" "SRP-1152"
"00447285" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "M" "" "Germany" "" "0" "" "" "" "SRP-1159"
"00447294" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient" "M" "" "Germany" "" "0" "" "" "" "SRP-1186"
"00447304" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "F" "" "Germany" "" "0" "" "" "" "SRP-1211"
"00447327" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "M" "" "Germany" "" "0" "" "" "" "SRP-1283"
"00447331" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "M" "" "Germany" "" "0" "" "" "" "STGD-80"
"00447332" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "F" "" "Germany" "" "0" "" "" "" "STGD-94"
"00447334" "" "" "" "3" "" "00006" "{PMID:Weisschuh 2024:37734845}" "family, 3 affected" "M" "" "Germany" "" "0" "" "" "" "STGD-111"
"00447335" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "M" "" "Germany" "" "0" "" "" "" "STGD-119"
"00447336" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient" "M" "" "Germany" "" "0" "" "" "" "STGD-169"
"00447337" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "M" "" "Germany" "" "0" "" "" "" "STGD-176"
"00447338" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient" "F" "" "Germany" "" "0" "" "" "" "STGD-212"
"00447339" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient" "M" "" "Germany" "" "0" "" "" "" "STGD-229"
"00447340" "" "" "" "2" "" "00006" "{PMID:Weisschuh 2024:37734845}" "family, 2 affected" "F" "" "Germany" "" "0" "" "" "" "STGD-315-1"
"00447341" "" "" "00447340" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "relative" "M" "" "Germany" "" "0" "" "" "" "STGD-315-2"
"00447342" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "F" "" "Germany" "" "0" "" "" "" "STGD-324"
"00447343" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "M" "" "Germany" "" "0" "" "" "" "STGD-327"
"00447344" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "F" "" "Germany" "" "0" "" "" "" "STGD-328"
"00447345" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "F" "" "Germany" "" "0" "" "" "" "STGD-359"
"00447346" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "F" "" "Germany" "" "0" "" "" "" "STGD-375"
"00447347" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "M" "" "Germany" "" "0" "" "" "" "STGD-377"
"00447348" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "M" "" "Germany" "" "0" "" "" "" "STGD-378"
"00447349" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "M" "" "Germany" "" "0" "" "" "" "STGD-381"
"00447350" "" "" "" "2" "" "00006" "{PMID:Weisschuh 2024:37734845}" "family, 2 affected" "F" "" "Germany" "" "0" "" "" "" "STGD-383"
"00447351" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "F" "" "Germany" "" "0" "" "" "" "STGD-384"
"00447352" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient" "M" "" "Germany" "" "0" "" "" "" "STGD-385"
"00447353" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "M" "" "Germany" "" "0" "" "" "" "STGD-386"
"00447354" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "M" "" "Germany" "" "0" "" "" "" "STGD-387"
"00447355" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "F" "" "Germany" "" "0" "" "" "" "STGD-388"
"00447357" "" "" "" "2" "" "00006" "{PMID:Weisschuh 2024:37734845}" "family, 2 affected" "M" "" "Germany" "" "0" "" "" "" "STGD-390"
"00447358" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient" "F" "" "Germany" "" "0" "" "" "" "STGD-391"
"00447359" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "M" "" "Germany" "" "0" "" "" "" "STGD-392"
"00447360" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "M" "" "Germany" "" "0" "" "" "" "STGD-393"
"00447361" "" "" "" "2" "" "00006" "{PMID:Weisschuh 2024:37734845}" "family, 2 affected" "M" "" "Germany" "" "0" "" "" "" "STGD-394"
"00447362" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "F" "" "Germany" "" "0" "" "" "" "STGD-395"
"00447363" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "F" "" "Germany" "" "0" "" "" "" "STGD-396"
"00447364" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "M" "" "Germany" "" "0" "" "" "" "STGD-397"
"00447365" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "M" "" "Germany" "" "0" "" "" "" "STGD-398"
"00447366" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "M" "" "Germany" "" "0" "" "" "" "STGD-399"
"00447367" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "F" "" "Germany" "" "0" "" "" "" "STGD-402"
"00447368" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "F" "" "Germany" "" "0" "" "" "" "STGD-405"
"00447369" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "M" "" "Germany" "" "0" "" "" "" "STGD-408"
"00447370" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "F" "" "Germany" "" "0" "" "" "" "STGD-409"
"00447371" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "F" "" "Germany" "" "0" "" "" "" "STGD-411"
"00447372" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "F" "" "Germany" "" "0" "" "" "" "STGD-414"
"00447373" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "M" "" "Germany" "" "0" "" "" "" "STGD-416"
"00447374" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "M" "" "Germany" "" "0" "" "" "" "STGD-419"
"00447375" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "F" "" "Germany" "" "0" "" "" "" "STGD-423"
"00447376" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "F" "" "Germany" "" "0" "" "" "" "STGD-427"
"00447377" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "F" "" "Germany" "" "0" "" "" "" "STGD-428"
"00447378" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "M" "" "Germany" "" "0" "" "" "" "STGD-429"
"00447379" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "F" "" "Germany" "" "0" "" "" "" "STGD-430"
"00447380" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "M" "" "Germany" "" "0" "" "" "" "STGD-431"
"00447381" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "F" "" "Germany" "" "0" "" "" "" "STGD-435"
"00447382" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "F" "" "Germany" "" "0" "" "" "" "STGD-436"
"00447383" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "F" "" "Germany" "" "0" "" "" "" "STGD-437"
"00447384" "" "" "" "2" "" "00006" "{PMID:Weisschuh 2024:37734845}" "family, 2 affected" "F" "" "Germany" "" "0" "" "" "" "STGD-438"
"00447385" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "F" "" "Germany" "" "0" "" "" "" "STGD-441"
"00447386" "" "" "" "3" "" "00006" "{PMID:Weisschuh 2024:37734845}" "family, 3 affected" "F" "" "Germany" "" "0" "" "" "" "STGD-442"
"00447387" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "F" "" "Germany" "" "0" "" "" "" "STGD-443"
"00447388" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "F" "" "Germany" "" "0" "" "" "" "STGD-445"
"00447389" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "M" "" "Germany" "" "0" "" "" "" "STGD-448"
"00447390" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "F" "" "Germany" "" "0" "" "" "" "STGD-449"
"00447391" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "M" "" "Germany" "" "0" "" "" "" "STGD-453"
"00447392" "" "" "" "2" "" "00006" "{PMID:Weisschuh 2024:37734845}" "family, 2 affected" "F" "" "Germany" "" "0" "" "" "" "STGD-455"
"00447393" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "F" "" "Germany" "" "0" "" "" "" "STGD-457"
"00447394" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "F" "" "Germany" "" "0" "" "" "" "STGD-458"
"00447396" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "F" "" "Germany" "" "0" "" "" "" "STGD-461"
"00447397" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "M" "" "Germany" "" "0" "" "" "" "STGD-462"
"00447398" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "F" "" "Germany" "" "0" "" "" "" "STGD-464"
"00447399" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient" "M" "" "Germany" "" "0" "" "" "" "STGD-465"
"00447523" "" "" "" "2" "" "00006" "{PMID:Weisschuh 2024:37734845}" "family, 2 affected" "F" "" "Germany" "" "0" "" "" "" "CD-615-1"
"00447537" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "M" "" "Germany" "" "0" "" "" "" "CRD-800"
"00447560" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "M" "" "Germany" "" "0" "" "" "" "MDS-297"
"00447561" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient" "F" "" "Germany" "" "0" "" "" "" "MDS-395"
"00447571" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "M" "" "Germany" "" "0" "" "" "" "MISC-319"
"00447597" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "M" "" "Germany" "" "0" "" "" "" "SRP-925"
"00447626" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "F" "" "Germany" "" "0" "" "" "" "STGD-379"
"00447627" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "M" "" "Germany" "" "0" "" "" "" "STGD-413"
"00447628" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient" "F" "" "Germany" "" "0" "" "" "" "STGD-420"
"00447629" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "F" "" "Germany" "" "0" "" "" "" "STGD-425"
"00447630" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "M" "" "Germany" "" "0" "" "" "" "STGD-432"
"00447631" "" "" "" "3" "" "00006" "{PMID:Weisschuh 2024:37734845}" "family, 3 affected" "M" "" "Germany" "" "0" "" "" "" "STGD-433"
"00447632" "" "" "" "2" "" "00006" "{PMID:Weisschuh 2024:37734845}" "family, 2 affected" "F" "" "Germany" "" "0" "" "" "" "STGD-446"
"00447635" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient" "F" "" "Germany" "" "0" "" "" "" "UD-110"
"00447650" "" "" "" "2" "" "00006" "{PMID:Weisschuh 2024:37734845}" "family, 2 affected" "M" "" "Germany" "" "0" "" "" "" "ADRP-502"
"00447652" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "M" "" "Germany" "" "0" "" "" "" "ARRP-345"
"00447655" "" "" "" "3" "" "00006" "{PMID:Weisschuh 2024:37734845}" "family, 3 affected" "F" "" "Germany" "" "0" "" "" "" "ARRP-486"
"00447660" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "M" "" "Germany" "" "0" "" "" "" "CD-438"
"00447665" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "F" "" "Germany" "" "0" "" "" "" "CD-613"
"00447667" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "M" "" "Germany" "" "0" "" "" "" "CRD-631"
"00447668" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "M" "" "Germany" "" "0" "" "" "" "CRD-635"
"00447669" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "F" "" "Germany" "" "0" "" "" "" "CRD-807"
"00447670" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "F" "" "Germany" "" "0" "" "" "" "CRD-833"
"00447672" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "M" "" "Germany" "" "0" "" "" "" "LHON-1220"
"00447674" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "M" "" "Germany" "" "0" "" "" "" "MDS-307"
"00447676" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "M" "" "Germany" "" "0" "" "" "" "MDS-415"
"00447687" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "F" "" "Germany" "" "0" "" "" "" "OAK-745"
"00447690" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "F" "" "Germany" "" "0" "" "" "" "SRP-52"
"00447695" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "F" "" "Germany" "" "0" "" "" "" "SRP-346"
"00447700" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "F" "" "Germany" "" "0" "" "" "" "SRP-920"
"00447704" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "F" "" "Germany" "" "0" "" "" "" "SRP-1154"
"00447708" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "M" "" "Germany" "" "0" "" "" "" "SRP-1180"
"00447721" "" "" "" "2" "" "00006" "{PMID:Weisschuh 2024:37734845}" "family, 2 affected" "M" "" "Germany" "" "0" "" "" "" "STGD-246"
"00449978" "" "" "" "1" "" "02230" "{PMID:Zeuli 2024:38816995}" "" "F" "" "Italy" "" "0" "" "" "white" "Pt-1"
"00449979" "" "" "" "1" "" "02230" "{PMID:Zeuli 2024:38816995}" "" "F" "" "Italy" "" "0" "" "" "white" "Pt-2"
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"00450525" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "F" "" "" "" "0" "" "" "" "070882"
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"00450530" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "M" "" "" "" "0" "" "" "" "071933"
"00450531" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "F" "" "" "" "0" "" "" "" "072059"
"00450532" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "M" "" "" "" "0" "" "" "" "072770"
"00450533" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "F" "" "" "" "0" "" "" "" "072778"
"00450534" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "M" "" "" "" "0" "" "" "" "072783"
"00450535" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "F" "" "" "" "0" "" "" "" "072786"
"00450536" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "F" "" "" "" "0" "" "" "" "072788"
"00450537" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "F" "" "" "" "0" "" "" "" "072789"
"00450538" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "F" "" "" "" "0" "" "" "" "072791"
"00450539" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "M" "" "" "" "0" "" "" "" "072795"
"00450540" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "F" "" "" "" "0" "" "" "" "072796"
"00450541" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "F" "" "" "" "0" "" "" "" "072797"
"00450542" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "M" "" "" "" "0" "" "" "" "072798"
"00450543" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "M" "" "" "" "0" "" "" "" "072799"
"00450544" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "M" "" "" "" "0" "" "" "" "072800"
"00450545" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "F" "" "" "" "0" "" "" "" "072802"
"00450546" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "M" "" "" "" "0" "" "" "" "072803"
"00450547" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "M" "" "" "" "0" "" "" "" "072804"
"00450548" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "F" "" "" "" "0" "" "" "" "072806"
"00450549" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "F" "" "" "" "0" "" "" "" "072807"
"00450550" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "M" "" "" "" "0" "" "" "" "072809"
"00450551" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "M" "" "" "" "0" "" "" "" "072811"
"00450552" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "M" "" "" "" "0" "" "" "" "072812"
"00450553" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "F" "" "" "" "0" "" "" "" "072813"
"00450554" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "F" "" "" "" "0" "" "" "" "072815"
"00450555" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "M" "" "" "" "0" "" "" "" "073303"
"00450556" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "F" "" "" "" "0" "" "" "" "073304"
"00450557" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "F" "" "" "" "0" "" "" "" "073308"
"00450558" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "M" "" "" "" "0" "" "" "" "073309"
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"00450562" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "M" "" "" "" "0" "" "" "" "073315"
"00450563" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "M" "" "" "" "0" "" "" "" "073316"
"00450564" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "M" "" "" "" "0" "" "" "" "073317"
"00450565" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "F" "" "" "" "0" "" "" "" "073318"
"00450566" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "F" "" "" "" "0" "" "" "" "073319"
"00450567" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "F" "" "" "" "0" "" "" "" "073320"
"00450568" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "F" "" "" "" "0" "" "" "" "073321"
"00450569" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "M" "" "" "" "0" "" "" "" "073322"
"00450570" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "F" "" "" "" "0" "" "" "" "073323"
"00450571" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "M" "" "" "" "0" "" "" "" "073324"
"00450572" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "M" "" "" "" "0" "" "" "" "073327"
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"00450580" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "M" "" "" "" "0" "" "" "" "073345"
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"00450600" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "F" "" "" "" "0" "" "" "" "073754"
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"00450602" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "M" "" "" "" "0" "" "" "" "073758"
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"00451072" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "067116"
"00451073" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "067120"
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"00451075" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "067131"
"00451076" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "067141"
"00451077" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "067153"
"00451078" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "067156"
"00451079" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "067157"
"00451081" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "067164"
"00451082" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "067167"
"00451083" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "067186"
"00451084" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "067187"
"00451085" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "067190"
"00451086" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "067193"
"00451087" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "067201"
"00451088" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "067205"
"00451089" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "067216"
"00451091" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "067221"
"00451092" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "067234"
"00451093" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "067245"
"00451095" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "067265"
"00451096" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "067291"
"00451097" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "067292"
"00451098" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "067294"
"00451099" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "067301"
"00451100" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "067309"
"00451101" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "067321"
"00451103" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "070619"
"00451104" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "070640"
"00451105" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "070696"
"00451106" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "070707"
"00451107" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "070799"
"00451108" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "070809"
"00451109" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "070816"
"00451110" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "070829"
"00451111" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "070832"
"00451112" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "070835"
"00451113" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "070850"
"00451114" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "070854"
"00451115" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "070858"
"00451118" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "070980"
"00451119" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "070997"
"00451120" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "071005"
"00451126" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "071106"
"00451127" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "071121"
"00451128" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "071210"
"00451129" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "071234"
"00451130" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "071278"
"00451131" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "071281"
"00451132" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "071282"
"00451133" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "071288"
"00451134" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "071297"
"00451135" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "071298"
"00451136" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "071315"
"00451137" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "071319"
"00451138" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "071321"
"00451139" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "071322"
"00451140" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "071323"
"00451141" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "071324"
"00451142" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "071325"
"00451143" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "071332"
"00451144" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "071334"
"00451145" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "071382"
"00451146" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "071388"
"00451147" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "071392"
"00451148" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "071443"
"00451149" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "071445"
"00451150" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "071446"
"00451151" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "071447"
"00451152" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "071448"
"00451153" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "071450"
"00451154" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "071491"
"00451156" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "071496"
"00451157" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "071501"
"00451159" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "071573"
"00451160" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "071722"
"00451161" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "071748"
"00451162" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "071758"
"00451163" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "071764"
"00451165" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "071787"
"00451166" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "071788"
"00451167" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "071793"
"00451168" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "071800"
"00451169" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "071805"
"00451170" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "071811"
"00451171" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "071815"
"00451172" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "071821"
"00451173" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "071822"
"00451174" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "071917"
"00451175" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "071919"
"00451176" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "071921"
"00451177" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "071927"
"00451178" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "071986"
"00451179" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "071987"
"00451180" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "071989"
"00451181" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "071991"
"00451182" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "071996"
"00451183" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "071997"
"00451184" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "072002"
"00451185" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "072003"
"00451186" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "072004"
"00451187" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "072005"
"00451188" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "072006"
"00451189" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "072008"
"00451190" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "072010"
"00451191" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "072012"
"00451192" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "072013"
"00451193" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "072014"
"00451194" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "072016"
"00451195" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "072018"
"00451196" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "072021"
"00451197" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "072023"
"00451198" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "072024"
"00451199" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "072025"
"00451200" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "072026"
"00451201" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "072027"
"00451202" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "072030"
"00451203" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "072031"
"00451204" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "072033"
"00451209" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "072050"
"00451211" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "072077"
"00451214" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "072098"
"00451215" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "072107"
"00451218" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "072168"
"00451221" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "072173"
"00451222" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "072174"
"00451224" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "072179"
"00451227" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "072210"
"00451230" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "072221"
"00451231" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "072226"
"00451232" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "072280"
"00451234" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "072291"
"00451235" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "072332"
"00451236" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "072719"
"00451237" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "072732"
"00451238" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "072737"
"00451239" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "072760"
"00451240" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "072765"
"00451242" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "072772"
"00451243" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "072787"
"00451244" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "072808"
"00451245" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "072816"
"00451247" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "072821"
"00451248" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "072822"
"00451249" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "072829"
"00451250" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "072850"
"00451253" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "072858"
"00451254" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "072862"
"00451257" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "072953"
"00451258" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "072963"
"00451259" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "073069"
"00451260" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "073075"
"00451261" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "073107"
"00451263" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "073198"
"00451264" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "073201"
"00451265" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "073204"
"00451266" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "073217"
"00451267" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "073313"
"00451268" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "073325"
"00451269" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "073346"
"00451271" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "073348"
"00451272" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "073352"
"00451273" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "073371"
"00451276" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "073389"
"00451277" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "073390"
"00451278" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "073396"
"00451279" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "073447"
"00451280" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "073560"
"00451281" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "073568"
"00451283" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "073737"
"00451284" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "073768"
"00451286" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "073772"
"00451287" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "073774"
"00451289" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "073779"
"00451290" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "073785"
"00451292" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "073794"
"00451293" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "073885"
"00451295" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "073892"
"00451296" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "073895"
"00451298" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "074073"
"00451300" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "074193"
"00451304" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "074631"
"00451306" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "074639"
"00451307" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "074642"
"00451308" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "074648"
"00451309" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "074690"
"00451310" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "074698"
"00451312" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "074709"
"00451315" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "074757"
"00451316" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "074803"
"00451317" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "074878"
"00451318" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "075018"
"00451319" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "075020"
"00451320" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "075022"
"00451321" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "075024"
"00451322" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "075025"
"00451323" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "075026"
"00451324" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "075027"
"00451325" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "075029"
"00451326" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "075030"
"00451327" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "075031"
"00451328" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "075033"
"00451329" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "075034"
"00451330" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "075035"
"00451331" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "075135"
"00451335" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "075145"
"00451340" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "079509"
"00451341" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "079819"
"00451342" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "079828"
"00451343" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "079833"
"00451345" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "080603"
"00451347" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "080617"
"00451349" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "DNA11-04662"
"00451350" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "DNA15-01202"
"00451351" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "DNA15-16469"
"00451352" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "DNA17-04157"
"00451353" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "DNA17-19624"
"00451354" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "DNA18-01480"
"00451447" "" "" "" "1" "" "04701" "" "" "" "" "Mexico" "" "0" "" "" "" ""
"00451448" "" "" "" "1" "" "04701" "" "" "?" "" "Mexico" "" "" "" "" "" ""
"00451449" "" "" "" "1" "" "04701" "" "" "" "" "Mexico" "" "0" "" "" "" ""
"00451450" "" "" "" "1" "" "04701" "" "" "" "" "Mexico" "" "0" "" "" "" ""
"00451451" "" "" "" "1" "" "04701" "" "" "" "" "Mexico" "" "0" "" "" "" ""
"00451452" "" "" "" "1" "" "04701" "" "" "" "" "Mexico" "" "0" "" "" "" ""
"00451453" "" "" "" "1" "" "04701" "" "" "" "" "Mexico" "" "" "" "" "" ""
"00451454" "" "" "" "1" "" "04701" "" "" "" "" "Mexico" "" "" "" "" "" ""
"00451455" "" "" "" "1" "" "04701" "" "" "" "" "Mexico" "" "" "" "" "" ""
"00451465" "" "" "" "1" "" "04701" "" "" "" "" "Mexico" "" "" "" "" "" ""
"00451466" "" "" "" "1" "" "04701" "" "" "" "" "Mexico" "" "" "" "" "" ""
"00451467" "" "" "" "1" "" "04701" "" "" "" "" "Mexico" "" "" "" "" "" ""
"00451468" "" "" "" "1" "" "04701" "" "" "" "" "Mexico" "" "" "" "" "" ""
"00451469" "" "" "" "1" "" "04701" "" "" "" "" "Mexico" "" "" "" "" "" ""
"00451470" "" "" "" "1" "" "04701" "" "" "" "" "Mexico" "" "" "" "" "" ""
"00451471" "" "" "" "1" "" "04701" "" "" "" "" "Mexico" "" "" "" "" "" ""
"00451472" "" "" "" "1" "" "04701" "" "" "" "" "Mexico" "" "" "" "" "" ""
"00451473" "" "" "" "1" "" "04701" "" "" "" "" "Mexico" "" "" "" "" "" ""
"00451474" "" "" "" "1" "" "04701" "" "" "" "" "Mexico" "" "" "" "" "" ""
"00451475" "" "" "" "1" "" "04701" "" "" "" "" "Mexico" "" "" "" "" "" ""
"00451476" "" "" "" "1" "" "04701" "" "" "" "" "Mexico" "" "" "" "" "" ""
"00451477" "" "" "" "1" "" "04701" "" "" "" "" "Mexico" "" "" "" "" "" ""
"00451478" "" "" "" "1" "" "04701" "" "" "" "" "Mexico" "" "" "" "" "" ""
"00451479" "" "" "" "1" "" "04701" "" "" "" "" "Mexico" "" "" "" "" "" ""
"00451480" "" "" "" "1" "" "04701" "" "" "" "" "Mexico" "" "" "" "" "" ""
"00451481" "" "" "" "1" "" "04701" "" "" "" "" "Mexico" "" "" "" "" "" ""
"00451482" "" "" "" "1" "" "04701" "" "" "" "" "Mexico" "" "" "" "" "" ""
"00451483" "" "" "" "1" "" "04701" "" "" "" "" "Mexico" "" "" "" "" "" ""
"00451486" "" "" "" "1" "" "04701" "" "" "" "" "Mexico" "" "" "" "" "" ""
"00451487" "" "" "" "1" "" "04701" "" "" "" "" "Mexico" "" "" "" "" "" ""
"00451488" "" "" "" "1" "" "04701" "" "" "" "" "Mexico" "" "" "" "" "" ""
"00451489" "" "" "" "1" "" "04701" "" "" "" "" "Mexico" "" "" "" "" "" ""
"00451490" "" "" "" "1" "" "04701" "" "" "" "" "Mexico" "" "" "" "" "" ""
"00451491" "" "" "" "1" "" "04701" "" "" "" "" "Mexico" "" "" "" "" "" ""
"00451492" "" "" "" "1" "" "04701" "" "" "" "" "Mexico" "" "" "" "" "" ""
"00451493" "" "" "" "1" "" "04701" "" "" "" "" "Mexico" "" "" "" "" "" ""
"00451494" "" "" "" "1" "" "04701" "" "" "" "" "Mexico" "" "" "" "" "" ""
"00451495" "" "" "" "1" "" "04701" "" "" "" "" "Mexico" "" "" "" "" "" ""
"00451496" "" "" "" "1" "" "04701" "" "" "" "" "Mexico" "" "" "" "" "" ""
"00451497" "" "" "" "1" "" "04701" "" "" "" "" "Mexico" "" "" "" "" "" ""
"00451498" "" "" "" "1" "" "04701" "" "" "" "" "Mexico" "" "" "" "" "" ""
"00451499" "" "" "" "1" "" "04701" "" "" "" "" "Mexico" "" "" "" "" "" ""
"00451500" "" "" "" "1" "" "04701" "" "" "" "" "Mexico" "" "" "" "" "" ""
"00451501" "" "" "" "1" "" "04701" "" "" "" "" "Mexico" "" "" "" "" "" ""
"00451502" "" "" "" "1" "" "04701" "" "" "" "" "Mexico" "" "" "" "" "" ""
"00451503" "" "" "" "1" "" "04701" "" "" "" "" "Mexico" "" "" "" "" "" ""
"00451504" "" "" "" "1" "" "04701" "" "" "" "" "Mexico" "" "" "" "" "" ""
"00451505" "" "" "" "1" "" "04701" "" "" "" "" "Mexico" "" "" "" "" "" ""
"00451506" "" "" "" "1" "" "04701" "" "" "" "" "Mexico" "" "" "" "" "" ""
"00451507" "" "" "" "1" "" "04701" "" "" "" "" "Mexico" "" "" "" "" "" ""
"00451508" "" "" "" "1" "" "04701" "" "" "" "" "Mexico" "" "" "" "" "" ""
"00451509" "" "" "" "1" "" "04701" "" "" "" "" "Mexico" "" "" "" "" "" ""
"00451510" "" "" "" "1" "" "04701" "" "" "" "" "Mexico" "" "" "" "" "" ""
"00451511" "" "" "" "1" "" "04701" "" "" "" "" "Mexico" "" "" "" "" "" ""
"00451512" "" "" "" "1" "" "04701" "" "" "" "" "Mexico" "" "" "" "" "" ""
"00451513" "" "" "" "1" "" "04701" "" "" "" "" "Mexico" "" "" "" "" "" ""
"00451514" "" "" "" "1" "" "04701" "" "" "" "" "Mexico" "" "" "" "" "" ""
"00451515" "" "" "" "1" "" "04701" "" "" "" "" "Mexico" "" "" "" "" "" ""
"00451516" "" "" "" "1" "" "04701" "" "" "" "" "Mexico" "" "" "" "" "" ""
"00451517" "" "" "" "1" "" "04701" "" "" "" "" "Mexico" "" "" "" "" "" ""
"00451518" "" "" "" "1" "" "04701" "" "" "" "" "Mexico" "" "" "" "" "" ""
"00451519" "" "" "" "1" "" "04701" "" "" "" "" "Mexico" "" "" "" "" "" ""
"00451520" "" "" "" "1" "" "04701" "" "" "" "" "Mexico" "" "" "" "" "" ""
"00451521" "" "" "" "1" "" "04701" "" "" "" "" "Mexico" "" "" "" "" "" ""
"00451522" "" "" "" "1" "" "04701" "" "" "" "" "Mexico" "" "" "" "" "" ""
"00451523" "" "" "" "1" "" "04701" "" "" "" "" "Mexico" "" "" "" "" "" ""
"00451524" "" "" "" "1" "" "04701" "" "" "" "" "Mexico" "" "" "" "" "" ""
"00451525" "" "" "" "1" "" "04701" "" "" "" "" "Mexico" "" "" "" "" "" ""
"00451526" "" "" "" "1" "" "04701" "" "" "" "" "Mexico" "" "" "" "" "" ""
"00451527" "" "" "" "1" "" "04701" "" "" "" "" "Mexico" "" "" "" "" "" ""
"00451528" "" "" "" "1" "" "04701" "" "" "" "" "Mexico" "" "" "" "" "" ""
"00451637" "" "" "" "1" "" "04221" "{PMID:Vela-Amieva 2024:39519275}" "Likely consanguinity. Co-occurrence of two different monogenic diseases." "M" "no" "Mexico" "" "" "" "" "Mexican" "3bINP-069"
"00461066" "" "" "" "1" "" "00006" "{PMID:Midgley 2024:39676705}" "" "F" "" "South Africa" "" "0" "" "" "white" "Pat1"
"00461068" "" "" "" "1" "" "00006" "{PMID:Midgley 2024:39676705}" "" "F" "" "South Africa" "" "0" "" "" "Africa-indigenous" "Pat3"
"00461070" "" "" "" "1" "" "00006" "{PMID:Midgley 2024:39676705}" "" "M" "" "South Africa" "" "0" "" "" "Africa-indigenous" "Pat5"
"00461071" "" "" "" "1" "" "00006" "{PMID:Midgley 2024:39676705}" "" "M" "" "South Africa" "" "0" "" "" "mixed" "Pat6"
"00461080" "" "" "" "1" "" "00006" "{PMID:Midgley 2024:39676705}" "" "F" "" "South Africa" "" "0" "" "" "white" "Pat15"
"00461083" "" "" "" "1" "" "00006" "{PMID:Midgley 2024:39676705}" "" "M" "" "South Africa" "" "0" "" "" "white" "Pat18"
"00461101" "" "" "" "1" "" "00006" "{PMID:Midgley 2024:39676705}" "" "F" "" "South Africa" "" "0" "" "" "Africa-indigenous" "Pat36"
"00461103" "" "" "" "1" "" "00006" "{PMID:Midgley 2024:39676705}" "" "F" "" "South Africa" "" "0" "" "" "white" "Pat38"
"00461104" "" "" "" "1" "" "00006" "{PMID:Midgley 2024:39676705}" "" "F" "" "South Africa" "" "0" "" "" "mixed" "Pat39"
"00461105" "" "" "" "1" "" "00006" "{PMID:Midgley 2024:39676705}" "" "F" "" "South Africa" "" "0" "" "" "white" "Pat40"
"00461106" "" "" "" "1" "" "00006" "{PMID:Midgley 2024:39676705}" "" "M" "" "South Africa" "" "0" "" "" "white" "Pat41"
"00461107" "" "" "" "1" "" "00006" "{PMID:Midgley 2024:39676705}" "" "M" "" "South Africa" "" "0" "" "" "Africa-indigenous" "Pat42"
"00461120" "" "" "" "1" "" "00006" "{PMID:Midgley 2024:39676705}" "" "M" "" "South Africa" "" "0" "" "" "Africa-indigenous" "Pat55"
"00461121" "" "" "" "1" "" "00006" "{PMID:Midgley 2024:39676705}" "" "F" "" "South Africa" "" "0" "" "" "white" "Pat56"
"00461126" "" "" "" "1" "" "00006" "{PMID:Midgley 2024:39676705}" "" "M" "" "South Africa" "" "0" "" "" "Africa-indigenous" "Pat61"
"00461136" "" "" "" "1" "" "00006" "{PMID:Midgley 2024:39676705}" "" "M" "" "South Africa" "" "0" "" "" "white" "Pat71"
"00461139" "" "" "" "1" "" "00006" "{PMID:Midgley 2024:39676705}" "" "F" "" "South Africa" "" "0" "" "" "Africa-indigenous" "Pat74"
"00461140" "" "" "" "1" "" "00006" "{PMID:Midgley 2024:39676705}" "" "M" "" "South Africa" "" "0" "" "" "white" "Pat75"
"00465252" "" "" "" "1" "" "04839" "" "" "M" "yes" "China" "" "0" "" "" "Asian" "Pat1"
"00467833" "" "" "" "1" "" "00006" "{PMID:Hussain 2023:36833373}" "4-generation family, 1 affected, unaffected parents" "F" "" "United States" "" "0" "" "" "Caucasian" "MEP-082"
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 18623
"{{individualid}}" "{{diseaseid}}"
"00000232" "00028"
"00000234" "00028"
"00001791" "00112"
"00001809" "00112"
"00016862" "00420"
"00016863" "00420"
"00016864" "00420"
"00016865" "00420"
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"00016868" "00420"
"00016869" "00420"
"00016870" "00420"
"00016871" "00420"
"00016872" "00420"
"00016873" "00420"
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"00016877" "00420"
"00016878" "00420"
"00016879" "00420"
"00016892" "00420"
"00016893" "00420"
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"00016895" "00420"
"00016896" "00420"
"00016897" "00421"
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"00016899" "00420"
"00016900" "00421"
"00016901" "00420"
"00016902" "00420"
"00016904" "00420"
"00016905" "00420"
"00016906" "00420"
"00016907" "00420"
"00016908" "00420"
"00016909" "00421"
"00016910" "00420"
"00016911" "00420"
"00016912" "00420"
"00016913" "00420"
"00016915" "00420"
"00016917" "00421"
"00016918" "00420"
"00033087" "04214"
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"00033638" "04215"
"00033639" "04215"
"00033640" "04215"
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"00033643" "04215"
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"00033645" "04215"
"00033646" "04215"
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"00033650" "04215"
"00033651" "04215"
"00033652" "04215"
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"00033655" "04215"
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"00033658" "04215"
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"00033660" "04215"
"00033661" "04215"
"00033662" "04215"
"00033663" "04215"
"00033664" "04215"
"00033665" "04215"
"00033666" "04215"
"00033667" "00058"
"00033668" "04215"
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"00033670" "04215"
"00033671" "04215"
"00033672" "00058"
"00033673" "04215"
"00033674" "04213"
"00033675" "04215"
"00033676" "04215"
"00033677" "04215"
"00033683" "00420"
"00033704" "04215"
"00033705" "04215"
"00033706" "04215"
"00033707" "04215"
"00033708" "04215"
"00033709" "04215"
"00033710" "00058"
"00033711" "04215"
"00033712" "04215"
"00033713" "04215"
"00033714" "04215"
"00033715" "04215"
"00033716" "04215"
"00033717" "04215"
"00033718" "04215"
"00033719" "04215"
"00038322" "04214"
"00038371" "04214"
"00050695" "00198"
"00052949" "04214"
"00057783" "04214"
"00074686" "04214"
"00074687" "04214"
"00074688" "00420"
"00074689" "00420"
"00074690" "00420"
"00074691" "00420"
"00074692" "00420"
"00074693" "04214"
"00074694" "04214"
"00074695" "04214"
"00074696" "00420"
"00074697" "00420"
"00074698" "00381"
"00074699" "00381"
"00074700" "00381"
"00074701" "00381"
"00074702" "00381"
"00074703" "00381"
"00074704" "04214"
"00074705" "04214"
"00074706" "04214"
"00074707" "04214"
"00074708" "00058"
"00074709" "00058"
"00074710" "00058"
"00074711" "00058"
"00074712" "00198"
"00074713" "00420"
"00074714" "00420"
"00074715" "00420"
"00074716" "04214"
"00074717" "04214"
"00074718" "04214"
"00074719" "00381"
"00074720" "00381"
"00074721" "00381"
"00074722" "00381"
"00074723" "00198"
"00074724" "00198"
"00074725" "00198"
"00074726" "00198"
"00074727" "00058"
"00074728" "00058"
"00074729" "00058"
"00074730" "00058"
"00074731" "00058"
"00074732" "00058"
"00074733" "00058"
"00074734" "00058"
"00074735" "00058"
"00074736" "00058"
"00074737" "00058"
"00074738" "00058"
"00074739" "00058"
"00074740" "00058"
"00074741" "00058"
"00074742" "00058"
"00074743" "00058"
"00074744" "00058"
"00074745" "00058"
"00074746" "00058"
"00074747" "00058"
"00074748" "00058"
"00074749" "04214"
"00074750" "04214"
"00074751" "04214"
"00074752" "04214"
"00074753" "04214"
"00074754" "04214"
"00074755" "04214"
"00074756" "04214"
"00074757" "04214"
"00074758" "04214"
"00074759" "04214"
"00074760" "04214"
"00074761" "04214"
"00074762" "04214"
"00074763" "04214"
"00074764" "04214"
"00074765" "04214"
"00074766" "04214"
"00074767" "04214"
"00074768" "04214"
"00074769" "04214"
"00074770" "00420"
"00074771" "00198"
"00074772" "00420"
"00074773" "00420"
"00074774" "00420"
"00074775" "00420"
"00074776" "00420"
"00074777" "00420"
"00074778" "00420"
"00074779" "00420"
"00074780" "00420"
"00074781" "00420"
"00074782" "00420"
"00074783" "00420"
"00074784" "00420"
"00074785" "00420"
"00074786" "00420"
"00074787" "00420"
"00074788" "00420"
"00074789" "00420"
"00074790" "00420"
"00074791" "00420"
"00074792" "00420"
"00074793" "00198"
"00074794" "00198"
"00074795" "00198"
"00074796" "00198"
"00074797" "00198"
"00074798" "00198"
"00074799" "00198"
"00074800" "00198"
"00074801" "00058"
"00074802" "00058"
"00074803" "00058"
"00074804" "00058"
"00074805" "00058"
"00074806" "00058"
"00074807" "00058"
"00074808" "00198"
"00074809" "00198"
"00074810" "00198"
"00074811" "00198"
"00074812" "00198"
"00074813" "00198"
"00074814" "00198"
"00074815" "00198"
"00074816" "00198"
"00074817" "00198"
"00074818" "00198"
"00074819" "00198"
"00074820" "00198"
"00074821" "00198"
"00074822" "00198"
"00074823" "00198"
"00074824" "00420"
"00074825" "00420"
"00074826" "00420"
"00074827" "00420"
"00074828" "00420"
"00074829" "00420"
"00074830" "00420"
"00074831" "00058"
"00074832" "00420"
"00074833" "00420"
"00074834" "00420"
"00074835" "00420"
"00074836" "00420"
"00074837" "00058"
"00074838" "00420"
"00074839" "00420"
"00074840" "00420"
"00074841" "00058"
"00074842" "00420"
"00074843" "00420"
"00074844" "00420"
"00074845" "00058"
"00074846" "00420"
"00074847" "00420"
"00074848" "00420"
"00074849" "00420"
"00074850" "00420"
"00074851" "00420"
"00074852" "00420"
"00074853" "00420"
"00074854" "00420"
"00074855" "00420"
"00074856" "00420"
"00074857" "00420"
"00074858" "00420"
"00074859" "00420"
"00074860" "00420"
"00074861" "00420"
"00074862" "00420"
"00074863" "00420"
"00074864" "00420"
"00074865" "00420"
"00074866" "00420"
"00074867" "00420"
"00074868" "00420"
"00074869" "00420"
"00074870" "00420"
"00074871" "00420"
"00074872" "00420"
"00074873" "00420"
"00074874" "00420"
"00074875" "00420"
"00074876" "00420"
"00074877" "00420"
"00074878" "00420"
"00074879" "00420"
"00074880" "00420"
"00074881" "00420"
"00074882" "00420"
"00074883" "00420"
"00074884" "00420"
"00074885" "00420"
"00074886" "00420"
"00074887" "00420"
"00074888" "00420"
"00074889" "00420"
"00074890" "00420"
"00074891" "00420"
"00074892" "00420"
"00074893" "00420"
"00074894" "00420"
"00074895" "00420"
"00074896" "00420"
"00074897" "00420"
"00074898" "00420"
"00074899" "00420"
"00074900" "00420"
"00074901" "00420"
"00074902" "00420"
"00074903" "00420"
"00074904" "00420"
"00074905" "00420"
"00074906" "00420"
"00074907" "00058"
"00074908" "00058"
"00074909" "00058"
"00074910" "00420"
"00074911" "00420"
"00074912" "00420"
"00074913" "00420"
"00074914" "00420"
"00074915" "00420"
"00074916" "00420"
"00074917" "00420"
"00074918" "00420"
"00074919" "00420"
"00074920" "00420"
"00074921" "00420"
"00074922" "00420"
"00074923" "00420"
"00074924" "00420"
"00074925" "00058"
"00074926" "00420"
"00074927" "00420"
"00074928" "00420"
"00074929" "00420"
"00074930" "00420"
"00074931" "00420"
"00074932" "00420"
"00074933" "00420"
"00074934" "00420"
"00074935" "00420"
"00074936" "00420"
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## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00000, 00028, 00057, 00058, 00112, 00198, 00347, 00381, 00420, 00421, 01425, 02156, 02387, 03450, 03946, 04210, 04211, 04213, 04214, 04215, 04249, 05121, 05412, 05415, 05586, 06495
## Count = 18067
"{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}"
"0000026516" "04214" "00033087" "00229" "Unknown" "7y" "clumped pigmentary retinal degeneration" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000026522" "04214" "00033093" "00229" "Unknown" "20y" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000026553" "04214" "00033124" "00229" "Unknown" "10y" "dystrophy, macular, juvenile" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000026559" "04214" "00033130" "00229" "Unknown" "4y" "Wilm\'s tumor" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000026561" "04214" "00033132" "00229" "Unknown" "06y" "retinal degeneration, severe, early onset (EOSRD)" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000026566" "04214" "00033137" "00229" "Unknown" "9y" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000026581" "04214" "00033152" "00229" "Unknown" "45y" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000026582" "04214" "00033153" "00229" "Unknown" "29y" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000026771" "04214" "00033342" "00039" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000027067" "04215" "00033638" "01245" "Familial, autosomal recessive" ">07y" "Stargardt disease, severe; severe cone-rod dystrophy; y37, visual acuity OD: 20/400, OS: 20/400. y32: Severe chorioretinal atrophy, macula up to periphery most affected" "" "" "" "" "" "" "" "" "" "" ""
"0000027068" "04215" "00033639" "01245" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000027069" "04215" "00033640" "01245" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000027070" "04215" "00033641" "01245" "Familial, autosomal recessive" "" "severe ABCA4-associated phenotypes (Retinitis pigmentosa); y25, visual acuity OD: 0.2 (*LogMAR chart, BCVA not based on Snellen) , OS: 0.1 (*LogMAR chart, BCVA not based on) 25 Macular and peripheral atrophy with retinal vessel attenuation, waxy pallor of the optic nerve, generalized intraretinal pigmentation with midperipheral bone spiculae and inferior pigment clumping. y25: Macular and peripheral atrophy with retinal vessel attenuation, waxy pallor of the optic nerve, generalized intraretinal pigmentation with midperipheral bone spiculae and inferior pigment clumping" "" "" "" "" "" "" "" "" "" "" ""
"0000027071" "04215" "00033642" "01245" "Familial, autosomal recessive" ">07y" "Stargardt disease, severe; y57, visual acuity OD: <20/400, OS: <20/400. y42: Severe chorioretinal atrophy, macula up to periphery; macula most affected" "" "" "" "" "" "" "" "" "" "" ""
"0000027072" "04215" "00033643" "00006" "Familial, autosomal recessive" "" "at least 5 of features: <20y decreased visual acuity, decreased visual acuity as first visual symptom, symmetrical fundus findings, pisciform flecks, beaten metal macular atrophy, bulls-eye maculopathy, peripapillary sparing, vermillion fundus, masked choroid on fluorescein angiography, nummular pigment overlying extensive macular atrophy, central outer retinal atrophy on OCT and central scotomas on Goldmann perimetry" "" "" "" "" "" "" "" "" "" "" ""
"0000027073" "04215" "00033644" "00006" "Familial, autosomal recessive" "" "at least 5 of features: <20y decreased visual acuity, decreased visual acuity as first visual symptom, symmetrical fundus findings, pisciform flecks, beaten metal macular atrophy, bulls-eye maculopathy, peripapillary sparing, vermillion fundus, masked choroid on fluorescein angiography, nummular pigment overlying extensive macular atrophy, central outer retinal atrophy on OCT and central scotomas on Goldmann perimetry" "" "" "" "" "" "" "" "" "" "" ""
"0000027074" "04215" "00033645" "00006" "Familial, autosomal recessive" "" "at least 5 of features: <20y decreased visual acuity, decreased visual acuity as first visual symptom, symmetrical fundus findings, pisciform flecks, beaten metal macular atrophy, bulls-eye maculopathy, peripapillary sparing, vermillion fundus, masked choroid on fluorescein angiography, nummular pigment overlying extensive macular atrophy, central outer retinal atrophy on OCT and central scotomas on Goldmann perimetry" "" "" "" "" "" "" "" "" "" "" ""
"0000027075" "04215" "00033646" "00006" "Familial, autosomal recessive" "" "at least 5 of features: <20y decreased visual acuity, decreased visual acuity as first visual symptom, symmetrical fundus findings, pisciform flecks, beaten metal macular atrophy, bulls-eye maculopathy, peripapillary sparing, vermillion fundus, masked choroid on fluorescein angiography, nummular pigment overlying extensive macular atrophy, central outer retinal atrophy on OCT and central scotomas on Goldmann perimetry" "" "" "" "" "" "" "" "" "" "" ""
"0000027076" "04215" "00033647" "00006" "Familial, autosomal recessive" "" "at least 5 of features: <20y decreased visual acuity, decreased visual acuity as first visual symptom, symmetrical fundus findings, pisciform flecks, beaten metal macular atrophy, bulls-eye maculopathy, peripapillary sparing, vermillion fundus, masked choroid on fluorescein angiography, nummular pigment overlying extensive macular atrophy, central outer retinal atrophy on OCT and central scotomas on Goldmann perimetry" "" "" "" "" "" "" "" "" "" "" ""
"0000027077" "04215" "00033648" "00006" "Familial, autosomal recessive" "" "at least 5 of features: <20y decreased visual acuity, decreased visual acuity as first visual symptom, symmetrical fundus findings, pisciform flecks, beaten metal macular atrophy, bulls-eye maculopathy, peripapillary sparing, vermillion fundus, masked choroid on fluorescein angiography, nummular pigment overlying extensive macular atrophy, central outer retinal atrophy on OCT and central scotomas on Goldmann perimetry" "" "" "" "" "" "" "" "" "" "" ""
"0000027078" "04215" "00033649" "00006" "Familial, autosomal recessive" "" "at least 5 of features: <20y decreased visual acuity, decreased visual acuity as first visual symptom, symmetrical fundus findings, pisciform flecks, beaten metal macular atrophy, bulls-eye maculopathy, peripapillary sparing, vermillion fundus, masked choroid on fluorescein angiography, nummular pigment overlying extensive macular atrophy, central outer retinal atrophy on OCT and central scotomas on Goldmann perimetry" "" "" "" "" "" "" "" "" "" "" ""
"0000027079" "04215" "00033650" "00006" "Familial, autosomal recessive" "" "at least 5 of features: <20y decreased visual acuity, decreased visual acuity as first visual symptom, symmetrical fundus findings, pisciform flecks, beaten metal macular atrophy, bulls-eye maculopathy, peripapillary sparing, vermillion fundus, masked choroid on fluorescein angiography, nummular pigment overlying extensive macular atrophy, central outer retinal atrophy on OCT and central scotomas on Goldmann perimetry" "" "" "" "" "" "" "" "" "" "" ""
"0000027080" "04215" "00033651" "00006" "Familial, autosomal recessive" "" "at least 5 of features: <20y decreased visual acuity, decreased visual acuity as first visual symptom, symmetrical fundus findings, pisciform flecks, beaten metal macular atrophy, bulls-eye maculopathy, peripapillary sparing, vermillion fundus, masked choroid on fluorescein angiography, nummular pigment overlying extensive macular atrophy, central outer retinal atrophy on OCT and central scotomas on Goldmann perimetry" "" "" "" "" "" "" "" "" "" "" ""
"0000027081" "04215" "00033652" "00006" "Familial, autosomal recessive" "" "at least 5 of features: <20y decreased visual acuity, decreased visual acuity as first visual symptom, symmetrical fundus findings, pisciform flecks, beaten metal macular atrophy, bulls-eye maculopathy, peripapillary sparing, vermillion fundus, masked choroid on fluorescein angiography, nummular pigment overlying extensive macular atrophy, central outer retinal atrophy on OCT and central scotomas on Goldmann perimetry" "" "" "" "" "" "" "" "" "" "" ""
"0000027082" "04215" "00033653" "00006" "Familial, autosomal recessive" "" "at least 5 of features: <20y decreased visual acuity, decreased visual acuity as first visual symptom, symmetrical fundus findings, pisciform flecks, beaten metal macular atrophy, bulls-eye maculopathy, peripapillary sparing, vermillion fundus, masked choroid on fluorescein angiography, nummular pigment overlying extensive macular atrophy, central outer retinal atrophy on OCT and central scotomas on Goldmann perimetry" "" "" "" "" "" "" "" "" "" "" ""
"0000027083" "04215" "00033654" "00006" "Familial, autosomal recessive" "" "at least 5 of features: <20y decreased visual acuity, decreased visual acuity as first visual symptom, symmetrical fundus findings, pisciform flecks, beaten metal macular atrophy, bulls-eye maculopathy, peripapillary sparing, vermillion fundus, masked choroid on fluorescein angiography, nummular pigment overlying extensive macular atrophy, central outer retinal atrophy on OCT and central scotomas on Goldmann perimetry" "" "" "" "" "" "" "" "" "" "" ""
"0000027084" "04215" "00033655" "00006" "Familial, autosomal recessive" "" "at least 5 of features: <20y decreased visual acuity, decreased visual acuity as first visual symptom, symmetrical fundus findings, pisciform flecks, beaten metal macular atrophy, bulls-eye maculopathy, peripapillary sparing, vermillion fundus, masked choroid on fluorescein angiography, nummular pigment overlying extensive macular atrophy, central outer retinal atrophy on OCT and central scotomas on Goldmann perimetry" "" "" "" "" "" "" "" "" "" "" ""
"0000027085" "04215" "00033656" "00006" "Familial, autosomal recessive" "" "at least 5 of features: <20y decreased visual acuity, decreased visual acuity as first visual symptom, symmetrical fundus findings, pisciform flecks, beaten metal macular atrophy, bulls-eye maculopathy, peripapillary sparing, vermillion fundus, masked choroid on fluorescein angiography, nummular pigment overlying extensive macular atrophy, central outer retinal atrophy on OCT and central scotomas on Goldmann perimetry" "" "" "" "" "" "" "" "" "" "" ""
"0000027086" "04215" "00033657" "00006" "Familial, autosomal recessive" "" "at least 5 of features: <20y decreased visual acuity, decreased visual acuity as first visual symptom, symmetrical fundus findings, pisciform flecks, beaten metal macular atrophy, bulls-eye maculopathy, peripapillary sparing, vermillion fundus, masked choroid on fluorescein angiography, nummular pigment overlying extensive macular atrophy, central outer retinal atrophy on OCT and central scotomas on Goldmann perimetry" "" "" "" "" "" "" "" "" "" "" ""
"0000027087" "04215" "00033658" "00006" "Familial, autosomal recessive" "" "at least 5 of features: <20y decreased visual acuity, decreased visual acuity as first visual symptom, symmetrical fundus findings, pisciform flecks, beaten metal macular atrophy, bulls-eye maculopathy, peripapillary sparing, vermillion fundus, masked choroid on fluorescein angiography, nummular pigment overlying extensive macular atrophy, central outer retinal atrophy on OCT and central scotomas on Goldmann perimetry" "" "" "" "" "" "" "" "" "" "" ""
"0000027088" "04215" "00033659" "00006" "Familial, autosomal recessive" "" "at least 5 of features: <20y decreased visual acuity, decreased visual acuity as first visual symptom, symmetrical fundus findings, pisciform flecks, beaten metal macular atrophy, bulls-eye maculopathy, peripapillary sparing, vermillion fundus, masked choroid on fluorescein angiography, nummular pigment overlying extensive macular atrophy, central outer retinal atrophy on OCT and central scotomas on Goldmann perimetry" "" "" "" "" "" "" "" "" "" "" ""
"0000027089" "04215" "00033660" "00006" "Familial, autosomal recessive" "" "at least 5 of features: <20y decreased visual acuity, decreased visual acuity as first visual symptom, symmetrical fundus findings, pisciform flecks, beaten metal macular atrophy, bulls-eye maculopathy, peripapillary sparing, vermillion fundus, masked choroid on fluorescein angiography, nummular pigment overlying extensive macular atrophy, central outer retinal atrophy on OCT and central scotomas on Goldmann perimetry" "" "" "" "" "" "" "" "" "" "" ""
"0000027090" "04215" "00033661" "00006" "Familial, autosomal recessive" "" "at least 5 of features: <20y decreased visual acuity, decreased visual acuity as first visual symptom, symmetrical fundus findings, pisciform flecks, beaten metal macular atrophy, bulls-eye maculopathy, peripapillary sparing, vermillion fundus, masked choroid on fluorescein angiography, nummular pigment overlying extensive macular atrophy, central outer retinal atrophy on OCT and central scotomas on Goldmann perimetry" "" "" "" "" "" "" "" "" "" "" ""
"0000027091" "04215" "00033662" "00006" "Familial, autosomal recessive" "" "at least 5 of features: <20y decreased visual acuity, decreased visual acuity as first visual symptom, symmetrical fundus findings, pisciform flecks, beaten metal macular atrophy, bulls-eye maculopathy, peripapillary sparing, vermillion fundus, masked choroid on fluorescein angiography, nummular pigment overlying extensive macular atrophy, central outer retinal atrophy on OCT and central scotomas on Goldmann perimetry" "" "" "" "" "" "" "" "" "" "" ""
"0000027092" "04215" "00033663" "00006" "Familial, autosomal recessive" "" "at least 5 of features: <20y decreased visual acuity, decreased visual acuity as first visual symptom, symmetrical fundus findings, pisciform flecks, beaten metal macular atrophy, bulls-eye maculopathy, peripapillary sparing, vermillion fundus, masked choroid on fluorescein angiography, nummular pigment overlying extensive macular atrophy, central outer retinal atrophy on OCT and central scotomas on Goldmann perimetry" "" "" "" "" "" "" "" "" "" "" ""
"0000027093" "04215" "00033664" "00006" "Familial, autosomal recessive" "" "at least 5 of features: <20y decreased visual acuity, decreased visual acuity as first visual symptom, symmetrical fundus findings, pisciform flecks, beaten metal macular atrophy, bulls-eye maculopathy, peripapillary sparing, vermillion fundus, masked choroid on fluorescein angiography, nummular pigment overlying extensive macular atrophy, central outer retinal atrophy on OCT and central scotomas on Goldmann perimetry" "" "" "" "" "" "" "" "" "" "" ""
"0000027094" "04215" "00033665" "00006" "Familial, autosomal recessive" "" "at least 5 of features: <20y decreased visual acuity, decreased visual acuity as first visual symptom, symmetrical fundus findings, pisciform flecks, beaten metal macular atrophy, bulls-eye maculopathy, peripapillary sparing, vermillion fundus, masked choroid on fluorescein angiography, nummular pigment overlying extensive macular atrophy, central outer retinal atrophy on OCT and central scotomas on Goldmann perimetry" "" "" "" "" "" "" "" "" "" "" ""
"0000027095" "04215" "00033666" "00006" "Familial, autosomal recessive" "" "at least 5 of features: <20y decreased visual acuity, decreased visual acuity as first visual symptom, symmetrical fundus findings, pisciform flecks, beaten metal macular atrophy, bulls-eye maculopathy, peripapillary sparing, vermillion fundus, masked choroid on fluorescein angiography, nummular pigment overlying extensive macular atrophy, central outer retinal atrophy on OCT and central scotomas on Goldmann perimetry" "" "" "" "" "" "" "" "" "" "" ""
"0000027096" "00058" "00033667" "01247" "Isolated (sporadic)" "" "CRD; progressive decline of visual acuity, and on ERG a reduction of both cone and rod responses, with cone responses equally or more severely reduced" "" "" "" "" "" "" "" "" "" "" ""
"0000027097" "04215" "00033668" "01247" "Isolated (sporadic)" "" "Stargardt with CRD phenotype; progressive retinal dystrophy with beaten-metal appearance and/or yellow-white pisciform flecks and/or autofluorescent depositions under the RPE and progressive decline of visual acuity, and on ERG a reduction of both cone and rod responses, with cone responses equally or more severely reduced" "" "" "" "" "" "" "" "" "" "" ""
"0000027098" "04215" "00033669" "01247" "Familial, autosomal recessive" "" "Stargardt with CRD phenotype; progressive retinal dystrophy with beaten-metal appearance and/or yellow-white pisciform flecks and/or autofluorescent depositions under the RPE and progressive decline of visual acuity, and on ERG a reduction of both cone and rod responses, with cone responses equally or more severely reduced" "" "" "" "" "" "" "" "" "" "" ""
"0000027099" "04215" "00033670" "01247" "Familial, autosomal recessive" "" "Stargardt with CRD phenotype; progressive retinal dystrophy with beaten-metal appearance and/or yellow-white pisciform flecks and/or autofluorescent depositions under the RPE and progressive decline of visual acuity, and on ERG a reduction of both cone and rod responses, with cone responses equally or more severely reduced" "" "" "" "" "" "" "" "" "" "" ""
"0000027100" "04215" "00033671" "01247" "Familial, autosomal recessive" "" "Stargardt with CRD phenotype;progressive retinal dystrophy with beaten-metal appearance and/or yellow-white pisciform flecks and/or autofluorescent depositions under the RPE and progressive decline of visual acuity, and on ERG a reduction of both cone and rod responses, with cone responses equally or more severely reduced" "" "" "" "" "" "" "" "" "" "" ""
"0000027101" "00058" "00033672" "01247" "Familial, autosomal recessive" "" "cone-rod dystrophy (HP:0000510); progressive decline of visual acuity, and on ERG a reduction of both cone and rod responses, with cone responses equally or more severely reduced" "" "" "" "" "" "" "" "" "" "" ""
"0000027102" "04215" "00033673" "01247" "Familial, autosomal recessive" "" "progressive retinal dystrophy with beaten-metal appearance and/or yellow-white pisciform flecks and/or autofluorescent depositions under the RPE" "" "" "" "" "" "" "" "" "" "" ""
"0000027103" "04213" "00033674" "01247" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000027104" "04215" "00033675" "01247" "Familial, autosomal recessive" "" "progressive retinal dystrophy with beaten-metal appearance and/or yellow-white pisciform flecks and/or autofluorescent depositions under the RPE" "" "" "" "" "" "" "" "" "" "" ""
"0000027105" "04215" "00033676" "01247" "Familial, autosomal recessive" "" "progressive retinal dystrophy with beaten-metal appearance and/or yellow-white pisciform flecks and/or autofluorescent depositions under the RPE" "" "" "" "" "" "" "" "" "" "" ""
"0000027106" "04215" "00033677" "01247" "Isolated (sporadic)" "" "progressive retinal dystrophy with beaten-metal appearance and/or yellow-white pisciform flecks and/or autofluorescent depositions under the RPE" "" "" "" "" "" "" "" "" "" "" ""
"0000027112" "00420" "00033683" "01247" "Familial, autosomal recessive" "" "progressive retinal dystrophy with beaten-metal appearance and/or yellow-white pisciform flecks and/or autofluorescent depositions under the RPE" "" "" "" "" "" "" "" "" "" "" ""
"0000027133" "04215" "00033704" "01248" "Familial, autosomal recessive" "" "Stargardt disease; bilateral impairment of central vision together with irregular hyperfluorescent lesions at the macula and a darkchoroid" "09y" "" "visual deterioration, observed by patient" "" "" "" "" "" "" "" ""
"0000027134" "04215" "00033705" "01248" "Familial, autosomal recessive" "" "Stargardt disease; bilateral impairment of central vision together with irregular hyperfluorescent lesions at the macula and a darkchoroid" "17y" "" "" "" "" "" "" "" "" "" ""
"0000027135" "04215" "00033706" "01248" "Familial, autosomal recessive" "" "Stargardt disease; bilateral impairment of central vision together with irregular hyperfluorescent lesions at the macula and a darkchoroid" "08y" "" "" "" "" "" "" "" "" "" ""
"0000027136" "04215" "00033707" "01248" "Familial, autosomal recessive" "" "Stargardt disease; bilateral impairment of central vision together with irregular hyperfluorescent lesions at the macula and a darkchoroid" "19y" "" "" "" "" "" "" "" "" "" ""
"0000027137" "04215" "00033708" "01248" "Familial, autosomal recessive" "" "Stargardt disease; bilateral impairment of central vision together with irregular hyperfluorescent lesions at the macula and a darkchoroid" "26y" "" "" "" "" "" "" "" "" "" ""
"0000027138" "04215" "00033709" "01248" "Familial, autosomal recessive" "" "Stargardt disease; bilateral impairment of central vision together with irregular hyperfluorescent lesions at the macula and a darkchoroid" "14y" "" "" "" "" "" "" "" "" "" ""
"0000027139" "00058" "00033710" "01248" "Familial, autosomal recessive" "" "cone-rod dystrophy (HP:0000510); bilateral, progressive visual loss with concomitant nyctalpia, color vision abnormalities and photophobia. The eye fundus examination revealed panretinal degeneration affecting the macula more severely. In flash ERG full-field rod responses were moderately reduced, as well as cone-rod responses, whereas full-field cone responses were severely reduced." "30y" "" "" "" "" "" "" "" "" "" ""
"0000027140" "04215" "00033711" "01248" "Familial, autosomal recessive" "" "Stargardt disease; bilateral impairment of central vision together with irregular hyperfluorescent lesions at the macula and a darkchoroid" "13y" "" "" "" "" "" "" "" "" "" ""
"0000027141" "04215" "00033712" "01248" "Familial, autosomal recessive" "" "Stargardt disease; bilateral impairment of central vision together with irregular hyperfluorescent lesions at the macula and a darkchoroid" "25y" "" "" "" "" "" "" "" "" "" ""
"0000027142" "04215" "00033713" "01248" "Familial, autosomal recessive" "" "Stargardt disease; bilateral impairment of central vision together with irregular hyperfluorescent lesions at the macula and a darkchoroid" "14y" "" "visual deterioration, observed by patient" "" "" "" "" "" "" "" ""
"0000027143" "04215" "00033714" "01248" "Familial, autosomal recessive" "" "Stargardt disease; bilateral impairment of central vision together with irregular hyperfluorescent lesions at the macula and a darkchoroid" "20y" "" "visual deterioration, observed by patient" "" "" "" "" "" "" "" ""
"0000027144" "04215" "00033715" "01248" "Familial, autosomal recessive" "" "Stargardt disease; bilateral impairment of central vision together with irregular hyperfluorescent lesions at the macula and a darkchoroid" "12y" "" "" "" "" "" "" "" "" "" ""
"0000027145" "04215" "00033716" "01248" "Familial, autosomal recessive" "" "Stargardt disease; bilateral impairment of central vision together with irregular hyperfluorescent lesions at the macula and a darkchoroid" "12y" "" "" "" "" "" "" "" "" "" ""
"0000027146" "04215" "00033717" "01248" "Familial, autosomal recessive" "" "Stargardt disease; bilateral impairment of central vision together with irregular hyperfluorescent lesions at the macula and a darkchoroid" "04y" "" "visual deterioration, observed by patient" "" "" "" "" "" "" "" ""
"0000027147" "04215" "00033718" "01248" "Familial, autosomal recessive" "" "Stargardt disease; bilateral impairment of central vision together with irregular hyperfluorescent lesions at the macula and a darkchoroid" "13y" "" "visual deterioration, observed by patient" "" "" "" "" "" "" "" ""
"0000027148" "04215" "00033719" "01248" "Familial, autosomal recessive" "" "Stargardt disease; bilateral impairment of central vision together with irregular hyperfluorescent lesions at the macula and a darkchoroid" "08y" "" "" "" "" "" "" "" "" "" ""
"0000028865" "04214" "00038322" "01251" "Familial, autosomal recessive" "" "early-onset retinitis pigmentosa, night blindness, round pigments distributed across the entire retina, hyperopia, astigmatism, nystagmus" "" "" "?" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000028914" "04214" "00038371" "01251" "Isolated (sporadic)" "" "?" "41y" "" "?" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000037307" "00198" "00050695" "00006" "Isolated (sporadic)" "" "global developmental delay, generalized hypotonia, polyphagia, abnormal facial shape, astigmatism, constipation" "" "" "" "" "" "" "" "" "" "" ""
"0000039526" "04214" "00052949" "01424" "Unknown" "" "retinitis pigmentosa" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000044432" "04210" "00057783" "01338" "Familial, autosomal recessive" "08y" "congenital" "01y" "" "" "" "" "" "" "" "" "" ""
"0000054419" "00420" "00016862" "01695" "Unknown" "" "Stargardt disease; Visual acuity: OD 20/200, OS 20/50." "" "" "" "" "" "" "" "" "" "" ""
"0000054420" "00420" "00016863" "01695" "Unknown" "" "Stargardt disease; Visual acuity: OD 20/25, OS 20/25, flecks that were more numerous and extended anterior to the vascular arcades and/or nasal to the optic disc." "" "" "" "" "" "" "" "" "" "" ""
"0000054421" "00420" "00016864" "01695" "Unknown" "" "Stargardt disease; Visual acuity: OD 10/100, OS 10/160, flecks that were more numerous and extended anterior to the vascular arcades and/or nasal to the optic disc." "" "" "" "" "" "" "" "" "" "" ""
"0000054422" "00420" "00016865" "01695" "Unknown" "" "Stargardt disease; Visual acuity: OD 20/30, OS 20/200, parafoveal or perifoveal flecks with frequent atrophy of the central macula." "" "" "" "" "" "" "" "" "" "" ""
"0000054423" "00420" "00016866" "01695" "Unknown" "" "Stargardt disease; Visual acuity: OD 20/400, OS 20/100, flecks that were more numerous and extended anterior to the vascular arcades and/or nasal to the optic disc/Resorption of flecks. Choriocapillaris atrophy within the macula was often observed in these patients.." "" "" "" "" "" "" "" "" "" "" ""
"0000054424" "00420" "00016867" "01695" "Unknown" "" "Stargardt disease; Visual acuity: OD 20/25-2, OS 20/25-3, parafoveal or perifoveal flecks with frequent atrophy of the central macula." "" "" "" "" "" "" "" "" "" "" ""
"0000054425" "00420" "00016868" "01695" "Unknown" "" "Stargardt disease; Visual acuity: OD 20/70+2, OS 20/25-2." "" "" "" "" "" "" "" "" "" "" ""
"0000054426" "00420" "00016869" "01695" "Unknown" "" "Stargardt disease; Visual acuity: OD 20/15-3, OS 20/20+1, parafoveal or perifoveal flecks with frequent atrophy of the central macula." "" "" "" "" "" "" "" "" "" "" ""
"0000054427" "00420" "00016870" "01695" "Unknown" "" "Stargardt disease; Visual acuity: OD 20/400, OS 20/400." "" "" "" "" "" "" "" "" "" "" ""
"0000054428" "00420" "00016871" "01695" "Unknown" "" "Stargardt disease; unknown" "" "" "" "" "" "" "" "" "" "" ""
"0000054429" "00420" "00016872" "01695" "Unknown" "" "Stargardt disease; Visual acuity: OD 20/200, OS 20/200, flecks that were more numerous and extended anterior to the vascular arcades and/or nasal to the optic disc." "" "" "" "" "" "" "" "" "" "" ""
"0000054430" "00420" "00016873" "01695" "Unknown" "" "Stargardt disease; Visual acuity: OD 20/20, OS 20/20, flecks that were more numerous and extended anterior to the vascular arcades and/or nasal to the optic disc." "" "" "" "" "" "" "" "" "" "" ""
"0000054431" "00421" "00016875" "01695" "Unknown" "" "Stargardt disease; Visual acuity: OD 20/400, OS 20/400, Resorption of flecks. Choriocapillaris atrophy within the macula was often observed in these patients.." "" "" "" "" "" "" "" "" "" "" ""
"0000054432" "00420" "00016876" "01695" "Unknown" "" "Stargardt disease; Visual acuity: OD 20/50-2, OS 20/40, parafoveal or perifoveal flecks with frequent atrophy of the central macula." "" "" "" "" "" "" "" "" "" "" ""
"0000054433" "00420" "00016877" "01695" "Unknown" "" "Stargardt disease; Visual acuity: OD 20/400, OS 20/300, flecks that were more numerous and extended anterior to the vascular arcades and/or nasal to the optic disc Resorption of flecks. Choriocapillaris atrophy within the macula was often observed in these patients.." "" "" "" "" "" "" "" "" "" "" ""
"0000054434" "00420" "00016878" "01695" "Unknown" "" "Stargardt disease; Visual acuity: OD 10/100-1, OS 10/60-1, parafoveal or perifoveal flecks with frequent atrophy of the central macula." "" "" "" "" "" "" "" "" "" "" ""
"0000054435" "00420" "00016879" "01695" "Unknown" "" "Stargardt disease; Visual acuity: OD 20/400, OS 20/400, flecks that were more numerous and extended anterior to the vascular arcades and/or nasal to the optic disc." "" "" "" "" "" "" "" "" "" "" ""
"0000054436" "00420" "00016892" "01695" "Unknown" "" "Stargardt disease; Visual acuity: OD 10/120+1, OS 10/100-1, flecks that were more numerous and extended anterior to the vascular arcades and/or nasal to the optic disc." "" "" "" "" "" "" "" "" "" "" ""
"0000054437" "00420" "00016893" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000054438" "00420" "00016894" "01695" "Unknown" "" "Stargardt disease, bull\'s eye maculopathy; Visual acuity: OD 20/100, OS 20/150, parafoveal or perifoveal flecks with frequent atrophy of the central macula; y24: localized macular lesion exhibiting a smooth contour and qualitatively normal-appearing surrounding retina without flecks and visual acuity of 0.7 OD, 0.88 OS." "" "" "" "" "" "" "" "" "" "" ""
"0000054439" "00420" "00016895" "01695" "Unknown" "" "Stargardt disease; Visual acuity: OD 20/400, OS 20/50-2, flecks that were more numerous and extended anterior to the vascular arcades and/or nasal to the optic disc." "" "" "" "" "" "" "" "" "" "" ""
"0000054440" "00420" "00016896" "01695" "Unknown" "" "Stargardt disease; Visual acuity: OD 20/125, OS 20/125, flecks that were more numerous and extended anterior to the vascular arcades and/or nasal to the optic disc." "" "" "" "" "" "" "" "" "" "" ""
"0000054441" "00421" "00016897" "01695" "Unknown" "" "cone-rod dystrophy (HP:0000510); Visual acuity: OD count fingers, OS count fingers, Resorption of flecks. Choriocapillaris atrophy within the macula was often observed in these patients.." "" "" "" "" "" "" "" "" "" "" ""
"0000054442" "00420" "00016898" "01695" "Unknown" "" "Stargardt disease; Visual acuity: OD 20/30+2, OS 20/40-2, parafoveal or perifoveal flecks with frequent atrophy of the central macula." "" "" "" "" "" "" "" "" "" "" ""
"0000054443" "00420" "00016899" "01695" "Unknown" "" "Stargardt disease; Visual acuity: OD 20/150, OS 20/25, Resorption of flecks. Choriocapillaris atrophy within the macula was often observed in these patients.." "" "" "" "" "" "" "" "" "" "" ""
"0000054444" "00421" "00016900" "01695" "Unknown" "" "cone-rod dystrophy (HP:0000510); Visual acuity: OD count fingers, OS count fingers, Resorption of flecks. Choriocapillaris atrophy within the macula was often observed in these patients.." "" "" "" "" "" "" "" "" "" "" ""
"0000054445" "00420" "00016901" "01695" "Unknown" "" "Stargardt disease; Visual acuity: OD 20/30, OS 20/40-1, flecks that were more numerous and extended anterior to the vascular arcades and/or nasal to the optic disc." "" "" "" "" "" "" "" "" "" "" ""
"0000054446" "00420" "00016902" "01695" "Unknown" "" "Stargardt disease; Visual acuity: OD 20/20, OS 20/20, parafoveal or perifoveal flecks with frequent atrophy of the central macula." "" "" "" "" "" "" "" "" "" "" ""
"0000054447" "00420" "00016904" "01695" "Unknown" "" "Stargardt disease, bull\'s eye maculopathy; Visual acuity: OD 20/20, OS 20/20, parafoveal or perifoveal flecks with frequent atrophy of the central macula; y26, visual acuity: 20/20 OD, 20/20 OS, bull\'s eye maculopathy." "" "" "" "" "" "" "" "" "" "" ""
"0000054448" "00420" "00016905" "01695" "Unknown" "" "Stargardt disease, bull\'s eye maculopathy; Visual acuity: OD 20/20, OS 20/20, parafoveal or perifoveal flecks with frequent atrophy of the central macula." "" "" "" "" "" "" "" "" "" "" ""
"0000054449" "00420" "00016906" "01695" "Unknown" "" "Stargardt disease, bull\'s eye maculopathy; Visual acuity: OD 20/100, OS 20/125, parafoveal or perifoveal flecks with frequent atrophy of the central macula." "" "" "" "" "" "" "" "" "" "" ""
"0000054450" "00420" "00016907" "01695" "Unknown" "" "Stargardt disease; Visual acuity: OD light perception, OS light perception, Resorption of flecks. Choriocapillaris atrophy within the macula was often observed in these patients.." "" "" "" "" "" "" "" "" "" "" ""
"0000054451" "00420" "00016908" "01695" "Unknown" "" "Stargardt disease; Visual acuity: OD 20/40+1, OS 20/40, flecks that were more numerous and extended anterior to the vascular arcades and/or nasal to the optic disc." "" "" "" "" "" "" "" "" "" "" ""
"0000054452" "00421" "00016909" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000054453" "00420" "00016910" "01695" "Unknown" "" "Stargardt disease; Visual acuity: OD 20/25, OS 20/25-1, parafoveal or perifoveal flecks with frequent atrophy of the central macula." "" "" "" "" "" "" "" "" "" "" ""
"0000054454" "00420" "00016911" "01695" "Unknown" "" "Stargardt disease; Visual acuity: OD 20/200, OS 20/200, flecks that were more numerous and extended anterior to the vascular arcades and/or nasal to the optic disc." "" "" "" "" "" "" "" "" "" "" ""
"0000054455" "00420" "00016912" "01695" "Unknown" "" "Stargardt disease; Visual acuity: OD 20/100-1, OS 20/200+1, parafoveal or perifoveal flecks with frequent atrophy of the central macula." "" "" "" "" "" "" "" "" "" "" ""
"0000054456" "00420" "00016913" "01695" "Unknown" "" "Stargardt disease, bull\'s eye maculopathy; Visual acuity: OD 20/20-3, OS 20/20-3, parafoveal or perifoveal flecks with frequent atrophy of the central macula." "" "" "" "" "" "" "" "" "" "" ""
"0000054457" "00420" "00016915" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000054458" "00421" "00016917" "01695" "Unknown" "" "cone-rod dystrophy (HP:0000510); Visual acuity: OD 5/180+1, OS 5/160+1." "" "" "" "" "" "" "" "" "" "" ""
"0000054459" "00420" "00016918" "01695" "Unknown" "" "Stargardt disease; Flecks that were more numerous and extended anterior to the vascular arcades and/or nasal to the optic disc." "" "" "" "" "" "" "" "" "" "" ""
"0000054461" "04214" "00074686" "01695" "Familial, autosomal recessive" "" "retinitis pigmentosa; widespread retinal pigment epithelial degeneration, aterial narrowing, commensurate visual field loss, reduced amplitudes on electroretinogram" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000054462" "04214" "00074687" "01695" "Familial, autosomal recessive" "" "retinitis pigmentosa; widespread retinal pigment epithelial degeneration, aterial narrowing, commensurate visual field loss, reduced amplitudes on electroretinogram" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000054463" "00420" "00074688" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054464" "00420" "00074689" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054465" "00420" "00074690" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054466" "00420" "00074691" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054467" "00420" "00074692" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054468" "04214" "00074693" "01695" "Familial, autosomal recessive" "" "retinitis pigmentosa" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000054469" "04214" "00074694" "01695" "Familial, autosomal recessive" "" "retinitis pigmentosa" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000054470" "04214" "00074695" "01695" "Familial, autosomal recessive" "" "retinitis pigmentosa" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000054471" "00420" "00074696" "01695" "Familial, autosomal recessive" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054472" "00420" "00074697" "01695" "Familial, autosomal recessive" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054473" "00381" "00074698" "01695" "Familial, autosomal recessive" "" "Retinal dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054474" "00381" "00074699" "01695" "Familial, autosomal recessive" "" "Retinal dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054475" "00381" "00074700" "01695" "Familial, autosomal recessive" "" "Retinal dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054476" "00381" "00074701" "01695" "Familial, autosomal recessive" "" "Retinal dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054477" "00381" "00074702" "01695" "Familial, autosomal recessive" "" "Retinal dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054478" "00381" "00074703" "01695" "Familial, autosomal recessive" "" "Retinal dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054479" "04214" "00074704" "01695" "Isolated (sporadic)" "" "retinitis pigmentosa" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000054480" "04214" "00074705" "01695" "Isolated (sporadic)" "" "retinitis pigmentosa" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000054481" "04214" "00074706" "01695" "Isolated (sporadic)" "" "retinitis pigmentosa" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000054482" "04214" "00074707" "01695" "Isolated (sporadic)" "" "retinitis pigmentosa" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000054483" "00058" "00074708" "01695" "Isolated (sporadic)" "" "cone-rod dystrophy (HP:0000510), cone dystrophy (HP:0000548)" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054484" "00058" "00074709" "01695" "Isolated (sporadic)" "" "cone-rod dystrophy (HP:0000510), cone dystrophy (HP:0000548)" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054485" "00058" "00074710" "01695" "Isolated (sporadic)" "" "cone-rod dystrophy (HP:0000510), cone dystrophy (HP:0000548)" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054486" "00058" "00074711" "01695" "Isolated (sporadic)" "" "cone-rod dystrophy (HP:0000510), cone dystrophy (HP:0000548)" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054487" "00198" "00074712" "01695" "Isolated (sporadic)" "" "Stargardt disease or macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054488" "00420" "00074713" "01695" "Familial, autosomal recessive" "" "Stargardt disease; macular dystrophy, reduction in central visual acuity in second decade of life, delay in dark adaptation in 40s, fundus photographs showed extensive atrophic-appearing RPE changes and pigmentation in the posterior pole of the retina, abnormal cone and rod ERG" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054489" "00420" "00074714" "01695" "Familial, autosomal recessive" "" "Stargardt disease; macular dystrophy, reduction in central visual acuity in second decade of life, delay in dark adaptation in 40s, fundus photographs showed extensive atrophic-appearing RPE changes and pigmentation in the posterior pole of the retina, abnormal cone and rod ERG" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054490" "00420" "00074715" "01695" "Familial, autosomal recessive" "" "Stargardt disease; macular dystrophy, reduction in central visual acuity in second decade of life, delay in dark adaptation in 40s, fundus photographs showed extensive atrophic-appearing RPE changes and pigmentation in the posterior pole of the retina, abnormal cone and rod ERG" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054491" "04214" "00074716" "01695" "Familial, autosomal recessive" "" "retinitis pigmentosa; campimetry very altered and little assessable by the decrease of visual acuity, night blindness. Waxy optic disc pallor, bone spicule pigmentation, non-recordable ERG" "4y" "" "night blindness, decrease of visual acuity" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000054492" "04214" "00074717" "01695" "Familial, autosomal recessive" "" "retinitis pigmentosa; dyschromatopsia, waxy optic disc pallor, bone spicule pigmentation, non-recordable ERG" "5y" "" "decrease of visual acuity" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000054493" "04214" "00074718" "01695" "Familial, autosomal recessive" "" "retinitis pigmentosa; dyschromatopsia, waxy optic disc pallor, bone spicule pigmentation, non-recordable ERG" "4y" "" "decrease of visual acuity" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000054494" "00381" "00074719" "01695" "Familial, autosomal recessive" "" "Retinal dystrophy; poor vision, night blindness" "" "" "night blindness" "" "" "" "" "" "" "" ""
"0000054495" "00381" "00074720" "01695" "Familial, autosomal recessive" "" "Retinal dystrophy; poor vision, night blindness" "" "" "night blindness" "" "" "" "" "" "" "" ""
"0000054496" "00381" "00074721" "01695" "Familial, autosomal recessive" "" "Retinal dystrophy; poor vision, night blindness" "" "" "night blindness" "" "" "" "" "" "" "" ""
"0000054497" "00381" "00074722" "01695" "Familial, autosomal recessive" "" "Retinal dystrophy; poor vision, night blindness" "" "" "night blindness" "" "" "" "" "" "" "" ""
"0000054498" "00198" "00074723" "01695" "Familial, autosomal recessive" "" "Pattern dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054499" "00198" "00074724" "01695" "Familial, autosomal recessive" "" "Pattern dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054500" "00198" "00074725" "01695" "Familial, autosomal recessive" "" "Pattern dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054501" "00198" "00074726" "01695" "Familial, autosomal recessive" "" "Pattern dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054502" "00058" "00074727" "01695" "Familial, autosomal recessive" "" "cone-rod dystrophy (HP:0000510)" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054503" "00058" "00074728" "01695" "Familial, autosomal recessive" "" "cone-rod dystrophy (HP:0000510)" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054504" "00058" "00074729" "01695" "Familial, autosomal recessive" "" "cone-rod dystrophy (HP:0000510)" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054505" "00058" "00074730" "01695" "Familial, autosomal recessive" "" "cone-rod dystrophy (HP:0000510)" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054506" "00058" "00074731" "01695" "Familial, autosomal recessive" "" "cone-rod dystrophy (HP:0000510)" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054507" "00058" "00074732" "01695" "Familial, autosomal recessive" "" "cone-rod dystrophy (HP:0000510)" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054508" "00058" "00074733" "01695" "Familial, autosomal recessive" "" "cone-rod dystrophy (HP:0000510)" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054509" "00058" "00074734" "01695" "Familial, autosomal recessive" "" "cone-rod dystrophy (HP:0000510)" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054510" "00058" "00074735" "01695" "Familial, autosomal recessive" "" "cone-rod dystrophy (HP:0000510)" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054511" "00058" "00074736" "01695" "Familial, autosomal recessive" "" "cone-rod dystrophy (HP:0000510)" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054512" "00058" "00074737" "01695" "Familial, autosomal recessive" "" "cone-rod dystrophy (HP:0000510)" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054513" "00058" "00074738" "01695" "Familial, autosomal recessive" "" "cone-rod dystrophy (HP:0000510)" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054514" "00058" "00074739" "01695" "Familial, autosomal recessive" "" "cone-rod dystrophy (HP:0000510)" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054515" "00058" "00074740" "01695" "Familial, autosomal recessive" "" "cone-rod dystrophy (HP:0000510)" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054516" "00058" "00074741" "01695" "Familial, autosomal recessive" "" "cone-rod dystrophy (HP:0000510)" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054517" "00058" "00074742" "01695" "Familial, autosomal recessive" "" "cone-rod dystrophy (HP:0000510)" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054518" "00058" "00074743" "01695" "Familial, autosomal recessive" "" "cone-rod dystrophy (HP:0000510)" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054519" "00058" "00074744" "01695" "Familial, autosomal recessive" "" "cone-rod dystrophy (HP:0000510)" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054520" "00058" "00074745" "01695" "Familial, autosomal recessive" "" "cone-rod dystrophy (HP:0000510)" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054521" "00058" "00074746" "01695" "Familial, autosomal recessive" "" "cone-rod dystrophy (HP:0000510)" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054522" "00058" "00074747" "01695" "Familial, autosomal recessive" "" "cone-rod dystrophy (HP:0000510)" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054523" "00058" "00074748" "01695" "Familial, autosomal recessive" "" "cone-rod dystrophy (HP:0000510)" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054524" "04214" "00074749" "01695" "Isolated (sporadic)" "" "retinitis pigmentosa" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000054525" "04214" "00074750" "01695" "Isolated (sporadic)" "" "retinitis pigmentosa" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000054526" "04214" "00074751" "01695" "Isolated (sporadic)" "" "retinitis pigmentosa" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000054527" "04214" "00074752" "01695" "Isolated (sporadic)" "" "retinitis pigmentosa" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000054528" "04214" "00074753" "01695" "Isolated (sporadic)" "" "retinitis pigmentosa" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000054529" "04214" "00074754" "01695" "Isolated (sporadic)" "" "retinitis pigmentosa" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000054530" "04214" "00074755" "01695" "Isolated (sporadic)" "" "retinitis pigmentosa" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000054531" "04214" "00074756" "01695" "Isolated (sporadic)" "" "retinitis pigmentosa" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000054532" "04214" "00074757" "01695" "Isolated (sporadic)" "" "retinitis pigmentosa" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000054533" "04214" "00074758" "01695" "Isolated (sporadic)" "" "retinitis pigmentosa" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000054534" "04214" "00074759" "01695" "Isolated (sporadic)" "" "retinitis pigmentosa" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000054535" "04214" "00074760" "01695" "Isolated (sporadic)" "" "retinitis pigmentosa" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000054536" "04214" "00074761" "01695" "Isolated (sporadic)" "" "retinitis pigmentosa" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000054537" "04214" "00074762" "01695" "Familial, autosomal recessive" "" "Hisvisual acuitywas counting fingers at less than two feet OU. The fundus examination revealed an area of grayish scarring, attenuation of the retinal vasculature, and significant intraretinal pigmentation in the posterior pole, while the peripheral retina and choroid appeared to be comparatively normal. The patient’s family history was remarkable for one sister with RP. The electroretinogram was nonrecordable under all stimulus conditions. The patient’s visual acuity deteriorated to hand motions at 37 years of age and to light perception at 40 years. Bone spicule-like pigmentation, chorioretinal atrophy, and arteriolar narrowing were noted at that time. At 64 years of age, the patient had no light perception. Large clumps of pigment with RPE atrophy over the posterior 75% to 80% of the fundus were observed." "35y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000054538" "04214" "00074763" "01695" "Unknown" "" "retinitis pigmentosa; bone spicule retinal pigmentation, arteriolar attenuation, optic disc pallor, visual field constriction, an attenuated or abolished electroretinogram constriction, attenuated or abolished electroretinogram" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000054539" "04214" "00074764" "01695" "Unknown" "" "retinitis pigmentosa; bone spicule retinal pigmentation, arteriolar attenuation, optic disc pallor, visual field constriction, an attenuated or abolished electroretinogram constriction, attenuated or abolished electroretinogram" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000054540" "04214" "00074765" "01695" "Unknown" "" "retinitis pigmentosa; bone spicule retinal pigmentation, arteriolar attenuation, optic disc pallor, visual field constriction, an attenuated or abolished electroretinogram constriction, attenuated or abolished electroretinogram" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000054541" "04214" "00074766" "01695" "Unknown" "" "retinitis pigmentosa; bone spicule retinal pigmentation, arteriolar attenuation, optic disc pallor, visual field constriction, an attenuated or abolished electroretinogram constriction, attenuated or abolished electroretinogram" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000054542" "04214" "00074767" "01695" "Familial" "" "retinitis pigmentosa; bone spicule retinal pigmentation, arteriolar attenuation, optic disc pallor, visual field constriction, an attenuated or abolished electroretinogram constriction, attenuated or abolished electroretinogram" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000054543" "04214" "00074768" "01695" "Familial" "" "retinitis pigmentosa; bone spicule retinal pigmentation, arteriolar attenuation, optic disc pallor, visual field constriction, an attenuated or abolished electroretinogram constriction, attenuated or abolished electroretinogram" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000054544" "04214" "00074769" "01695" "Familial" "" "retinitis pigmentosa; bone spicule retinal pigmentation, arteriolar attenuation, optic disc pallor, visual field constriction, an attenuated or abolished electroretinogram constriction, attenuated or abolished electroretinogram" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000054545" "00420" "00074770" "01695" "Familial" "" "Stargardt disease; progressive retinal dystrophy with beaten-metal appearance and/or yellow-white pisciform flecks and/or autofluorescent depositions under the RPE" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054546" "00198" "00074771" "01695" "Familial, autosomal recessive" "" "Stargardt disease or cone-rod dystrophy; progressive retinal dystrophy with beaten-metal appearance and/or yellow-white pisciform flecks and/or autofluorescent depositions under the RPE and progressive decline of visual acuity, and on ERG a reduction of both cone and rod responses, with cone responses equally or more severely reduced" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054547" "00420" "00074772" "01695" "Unknown" "" "Stargardt disease; retinal disorder, onset before 20 years of age, bilateral central visual loss, fluorescein angiographic feature of the dark choroid" "<20y" "" "unknown" "" "" "" "" "" "" "" ""
"0000054548" "00420" "00074773" "01695" "Unknown" "" "Stargardt disease; retinal disorder, onset before 20 years of age, bilateral central visual loss, fluorescein angiographic feature of the dark choroid" "<20y" "" "unknown" "" "" "" "" "" "" "" ""
"0000054549" "00420" "00074774" "01695" "Unknown" "" "Stargardt disease; retinal disorder, onset before 20 years of age, bilateral central visual loss, fluorescein angiographic feature of the dark choroid" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054550" "00420" "00074775" "01695" "Unknown" "" "Stargardt disease; retinal disorder, onset before 20 years of age, bilateral central visual loss, fluorescein angiographic feature of the dark choroid" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054551" "00420" "00074776" "01695" "Unknown" "" "Stargardt disease; retinal disorder, onset before 20 years of age, bilateral central visual loss, fluorescein angiographic feature of the dark choroid" "7y" "" "unknown" "" "" "" "" "" "" "" ""
"0000054552" "00420" "00074777" "01695" "Unknown" "" "Stargardt disease; retinal disorder, onset before 20 years of age, bilateral central visual loss, fluorescein angiographic feature of the dark choroid" "9y" "" "unknown" "" "" "" "" "" "" "" ""
"0000054553" "00420" "00074778" "01695" "Unknown" "" "Stargardt disease; retinal disorder, onset before 20 years of age, bilateral central visual loss, fluorescein angiographic feature of the dark choroid" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054554" "00420" "00074779" "01695" "Unknown" "" "Stargardt disease; onset before 30 years of age, bilateral central vision loss with “beaten-metal” foveal changes and/or yellow pigment epithelium deposits(“flecks”) in the posterior pole of the eye, typical“dark choroid” in fluorescein angiography" "<30y" "" "unknown" "" "" "" "" "" "" "" ""
"0000054555" "00420" "00074780" "01695" "Unknown" "" "Stargardt disease; onset before 30 years of age, bilateral central vision loss with “beaten-metal” foveal changes and/or yellow pigment epithelium deposits(“flecks”) in the posterior pole of the eye, typical“dark choroid” in fluorescein angiography" "<30y" "" "unknown" "" "" "" "" "" "" "" ""
"0000054556" "00420" "00074781" "01695" "Unknown" "" "Stargardt disease; onset before 30 years of age, bilateral central vision loss with “beaten-metal” foveal changes and/or yellow pigment epithelium deposits(“flecks”) in the posterior pole of the eye, typical“dark choroid” in fluorescein angiography" "<30y" "" "unknown" "" "" "" "" "" "" "" ""
"0000054557" "00420" "00074782" "01695" "Unknown" "" "Stargardt disease; onset before 30 years of age, bilateral central vision loss with “beaten-metal” foveal changes and/or yellow pigment epithelium deposits(“flecks”) in the posterior pole of the eye, typical“dark choroid” in fluorescein angiography" "<30y" "" "unknown" "" "" "" "" "" "" "" ""
"0000054558" "00420" "00074783" "01695" "Unknown" "" "Stargardt disease; onset before 30 years of age, bilateral central vision loss with “beaten-metal” foveal changes and/or yellow pigment epithelium deposits(“flecks”) in the posterior pole of the eye, typical“dark choroid” in fluorescein angiography" "<30y" "" "unknown" "" "" "" "" "" "" "" ""
"0000054559" "00420" "00074784" "01695" "Unknown" "" "Stargardt disease; onset before 30 years of age, bilateral central vision loss with “beaten-metal” foveal changes and/or yellow pigment epithelium deposits(“flecks”) in the posterior pole of the eye, typical“dark choroid” in fluorescein angiography" "<30y" "" "unknown" "" "" "" "" "" "" "" ""
"0000054560" "00420" "00074785" "01695" "Unknown" "" "Stargardt disease; onset before 30 years of age, bilateral central vision loss with “beaten-metal” foveal changes and/or yellow pigment epithelium deposits(“flecks”) in the posterior pole of the eye, typical“dark choroid” in fluorescein angiography" "<30y" "" "unknown" "" "" "" "" "" "" "" ""
"0000054561" "00420" "00074786" "01695" "Unknown" "" "Stargardt disease; onset before 30 years of age, bilateral central vision loss with “beaten-metal” foveal changes and/or yellow pigment epithelium deposits(“flecks”) in the posterior pole of the eye, typical“dark choroid” in fluorescein angiography" "<30y" "" "unknown" "" "" "" "" "" "" "" ""
"0000054562" "00420" "00074787" "01695" "Unknown" "" "Stargardt disease; onset before 30 years of age, bilateral central vision loss with “beaten-metal” foveal changes and/or yellow pigment epithelium deposits(“flecks”) in the posterior pole of the eye, typical“dark choroid” in fluorescein angiography" "<30y" "" "unknown" "" "" "" "" "" "" "" ""
"0000054563" "00420" "00074788" "01695" "Unknown" "" "Stargardt disease; onset before 30 years of age, bilateral central vision loss with “beaten-metal” foveal changes and/or yellow pigment epithelium deposits(“flecks”) in the posterior pole of the eye, typical“dark choroid” in fluorescein angiography" "<30y" "" "unknown" "" "" "" "" "" "" "" ""
"0000054564" "00420" "00074789" "01695" "Unknown" "" "Stargardt disease; onset before 30 years of age, bilateral central vision loss with “beaten-metal” foveal changes and/or yellow pigment epithelium deposits(“flecks”) in the posterior pole of the eye, typical“dark choroid” in fluorescein angiography" "<30y" "" "unknown" "" "" "" "" "" "" "" ""
"0000054565" "00420" "00074790" "01695" "Unknown" "" "Stargardt disease; onset before 30 years of age, bilateral central vision loss with “beaten-metal” foveal changes and/or yellow pigment epithelium deposits(“flecks”) in the posterior pole of the eye, typical“dark choroid” in fluorescein angiography" "<30y" "" "unknown" "" "" "" "" "" "" "" ""
"0000054566" "00420" "00074791" "01695" "Unknown" "" "Stargardt disease; onset before 30 years of age, bilateral central vision loss with “beaten-metal” foveal changes and/or yellow pigment epithelium deposits(“flecks”) in the posterior pole of the eye, typical“dark choroid” in fluorescein angiography" "<30y" "" "unknown" "" "" "" "" "" "" "" ""
"0000054567" "00420" "00074792" "01695" "Unknown" "" "Stargardt disease; onset before 30 years of age, bilateral central vision loss with “beaten-metal” foveal changes and/or yellow pigment epithelium deposits(“flecks”) in the posterior pole of the eye, typical“dark choroid” in fluorescein angiography" "<30y" "" "unknown" "" "" "" "" "" "" "" ""
"0000054568" "00198" "00074793" "01695" "Familial, autosomal recessive" "" "Stargardt disease or fundus flavimaculatus or cone-rod dystrophy; abnormal cone (30-Hz flicker) and rod (scotopic) ERGs and the absence of retinal flecks" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054569" "00198" "00074794" "01695" "Familial, autosomal recessive" "" "Stargardt disease or fundus flavimaculatus or cone-rod dystrophy; abnormal cone (30-Hz flicker) and rod (scotopic) ERGs and the absence of retinal flecks" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054570" "00198" "00074795" "01695" "Familial, autosomal recessive" "" "Stargardt disease or fundus flavimaculatus or cone-rod dystrophy; abnormal cone (30-Hz flicker) and rod (scotopic) ERGs and the absence of retinal flecks" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054571" "00198" "00074796" "01695" "Familial, autosomal recessive" "" "Stargardt disease or fundus flavimaculatus or cone-rod dystrophy; abnormal cone (30-Hz flicker) and rod (scotopic) ERGs and the absence of retinal flecks" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054572" "00198" "00074797" "01695" "Familial, autosomal recessive" "" "Stargardt disease or fundus flavimaculatus or cone-rod dystrophy; abnormal cone (30-Hz flicker) and rod (scotopic) ERGs and the absence of retinal flecks" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054573" "00198" "00074798" "01695" "Familial, autosomal recessive" "" "Stargardt disease or fundus flavimaculatus or cone-rod dystrophy; abnormal cone (30-Hz flicker) and rod (scotopic) ERGs and the absence of retinal flecks" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054574" "00198" "00074799" "01695" "Familial, autosomal recessive" "" "Retinitis Pigmentosa or Fundus flavimaculatus or Stargardt disease; typical peripheral pigmentary retinal degeneration and markedly reduced scotopic ERG" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054575" "00198" "00074800" "01695" "Familial, autosomal recessive" "" "Retinitis Pigmentosa or Fundus flavimaculatus or Stargardt disease; typical peripheral pigmentary retinal degeneration and markedly reduced scotopic ERG" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054576" "00058" "00074801" "01695" "Familial, autosomal recessive" "" "cone-rod dystrophy (HP:0000510); abnormal cone (30-Hz flicker) and rod (scotopic) ERGs and the absence of retinal flecks" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054577" "00058" "00074802" "01695" "Familial, autosomal recessive" "" "cone-rod dystrophy (HP:0000510); abnormal cone (30-Hz flicker) and rod (scotopic) ERGs and the absence of retinal flecks" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054578" "00058" "00074803" "01695" "Familial, autosomal recessive" "" "cone-rod dystrophy (HP:0000510); abnormal cone (30-Hz flicker) and rod (scotopic) ERGs and the absence of retinal flecks" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054579" "00058" "00074804" "01695" "Familial, autosomal recessive" "" "cone-rod dystrophy (HP:0000510); abnormal cone (30-Hz flicker) and rod (scotopic) ERGs and the absence of retinal flecks" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054580" "00058" "00074805" "01695" "Familial, autosomal recessive" "" "cone-rod dystrophy (HP:0000510); abnormal cone (30-Hz flicker) and rod (scotopic) ERGs and the absence of retinal flecks" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054581" "00058" "00074806" "01695" "Familial, autosomal recessive" "" "cone-rod dystrophy (HP:0000510); abnormal cone (30-Hz flicker) and rod (scotopic) ERGs and the absence of retinal flecks" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054582" "00058" "00074807" "01695" "Familial, autosomal recessive" "" "cone-rod dystrophy (HP:0000510); abnormal cone (30-Hz flicker) and rod (scotopic) ERGs and the absence of retinal flecks" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054583" "00198" "00074808" "01695" "Unknown" "" "Stargardt disease or fundus flavimaculatus; macular dysfunction based on ERG pattern and presence of orange/yellow flecks at the posterior pole, sometimes extending anterior to the vascular arcades" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054584" "00198" "00074809" "01695" "Unknown" "" "Stargardt disease or fundus flavimaculatus; macular dysfunction based on ERG pattern and presence of orange/yellow flecks at the posterior pole, sometimes extending anterior to the vascular arcades" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054585" "00198" "00074810" "01695" "Unknown" "" "Stargardt disease or fundus flavimaculatus; macular dysfunction based on ERG pattern and presence of orange/yellow flecks at the posterior pole, sometimes extending anterior to the vascular arcades" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054586" "00198" "00074811" "01695" "Unknown" "" "Stargardt disease or fundus flavimaculatus; macular dysfunction based on ERG pattern and presence of orange/yellow flecks at the posterior pole, sometimes extending anterior to the vascular arcades" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054587" "00198" "00074812" "01695" "Unknown" "" "Stargardt disease or fundus flavimaculatus; macular dysfunction based on ERG pattern and presence of orange/yellow flecks at the posterior pole, sometimes extending anterior to the vascular arcades" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054588" "00198" "00074813" "01695" "Unknown" "" "Stargardt disease or fundus flavimaculatus; macular dysfunction based on ERG pattern and presence of orange/yellow flecks at the posterior pole, sometimes extending anterior to the vascular arcades" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054589" "00198" "00074814" "01695" "Unknown" "" "Stargardt disease or fundus flavimaculatus; macular dysfunction based on ERG pattern and presence of orange/yellow flecks at the posterior pole, sometimes extending anterior to the vascular arcades" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054590" "00198" "00074815" "01695" "Unknown" "" "Stargardt disease or fundus flavimaculatus; macular dysfunction based on ERG pattern and presence of orange/yellow flecks at the posterior pole, sometimes extending anterior to the vascular arcades" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054591" "00198" "00074816" "01695" "Unknown" "" "Stargardt disease or fundus flavimaculatus; macular dysfunction based on ERG pattern and presence of orange/yellow flecks at the posterior pole, sometimes extending anterior to the vascular arcades" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054592" "00198" "00074817" "01695" "Unknown" "" "Stargardt disease or fundus flavimaculatus; macular dysfunction based on ERG pattern and presence of orange/yellow flecks at the posterior pole, sometimes extending anterior to the vascular arcades" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054593" "00198" "00074818" "01695" "Unknown" "" "Stargardt disease or fundus flavimaculatus; macular dysfunction based on ERG pattern and presence of orange/yellow flecks at the posterior pole, sometimes extending anterior to the vascular arcades" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054594" "00198" "00074819" "01695" "Unknown" "" "Stargardt disease or fundus flavimaculatus; macular dysfunction based on ERG pattern and presence of orange/yellow flecks at the posterior pole, sometimes extending anterior to the vascular arcades" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054595" "00198" "00074820" "01695" "Unknown" "" "Stargardt disease or fundus flavimaculatus; macular dysfunction based on ERG pattern and presence of orange/yellow flecks at the posterior pole, sometimes extending anterior to the vascular arcades" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054596" "00198" "00074821" "01695" "Unknown" "" "Stargardt disease or fundus flavimaculatus; macular dysfunction based on ERG pattern and presence of orange/yellow flecks at the posterior pole, sometimes extending anterior to the vascular arcades" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054597" "00198" "00074822" "01695" "Unknown" "" "Stargardt disease or fundus flavimaculatus; macular dysfunction based on ERG pattern and presence of orange/yellow flecks at the posterior pole, sometimes extending anterior to the vascular arcades" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054598" "00198" "00074823" "01695" "Unknown" "" "Stargardt disease or fundus flavimaculatus; macular dysfunction based on ERG pattern and presence of orange/yellow flecks at the posterior pole, sometimes extending anterior to the vascular arcades" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054599" "00420" "00074824" "01695" "Unknown" "" "Stargardt disease; reduced central visual acuity before age 30 and characteristic fundus changes of Stargardt macular degeneration, diagnostic fluorescein angiograms and/or ERGs consistent with the diagnosis of Stargardt macular degeneration, foveal ERGs were abnormal in every patient in whom they were measured and fluorescein angiography revealed a dark choroid in those patients so evaluated." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054600" "00420" "00074825" "01695" "Familial, autosomal recessive" "" "Stargardt disease; reduced central visual acuity before age 30 and characteristic fundus changes of Stargardt macular degeneration, diagnostic fluorescein angiograms and/or ERGs consistent with the diagnosis of Stargardt macular degeneration, foveal ERGs were abnormal in every patient in whom they were measured and fluorescein angiography revealed a dark choroid in those patients so evaluated." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054601" "00420" "00074826" "01695" "Familial, autosomal recessive" "" "Stargardt disease; reduced central visual acuity before age 30 and characteristic fundus changes of Stargardt macular degeneration, diagnostic fluorescein angiograms and/or ERGs consistent with the diagnosis of Stargardt macular degeneration, foveal ERGs were abnormal in every patient in whom they were measured and fluorescein angiography revealed a dark choroid in those patients so evaluated." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054602" "00420" "00074827" "01695" "Unknown" "" "Stargardt disease; reduced central visual acuity before age 30 and characteristic fundus changes of Stargardt macular degeneration, diagnostic fluorescein angiograms and/or ERGs consistent with the diagnosis of Stargardt macular degeneration, foveal ERGs were abnormal in every patient in whom they were measured and fluorescein angiography revealed a dark choroid in those patients so evaluated." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054603" "00420" "00074828" "01695" "Unknown" "" "Stargardt disease; reduced central visual acuity before age 30 and characteristic fundus changes of Stargardt macular degeneration, diagnostic fluorescein angiograms and/or ERGs consistent with the diagnosis of Stargardt macular degeneration, foveal ERGs were abnormal in every patient in whom they were measured and fluorescein angiography revealed a dark choroid in those patients so evaluated." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054604" "00420" "00074829" "01695" "Unknown" "" "Stargardt disease; reduced central visual acuity before age 30 and characteristic fundus changes of Stargardt macular degeneration, diagnostic fluorescein angiograms and/or ERGs consistent with the diagnosis of Stargardt macular degeneration, foveal ERGs were abnormal in every patient in whom they were measured and fluorescein angiography revealed a dark choroid in those patients so evaluated." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054605" "00420" "00074830" "01695" "Familial, autosomal recessive" "" "Stargardt disease; reduced central visual acuity before age 30 and characteristic fundus changes of Stargardt macular degeneration, diagnostic fluorescein angiograms and/or ERGs consistent with the diagnosis of Stargardt macular degeneration, foveal ERGs were abnormal in every patient in whom they were measured and fluorescein angiography revealed a dark choroid in those patients so evaluated." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054606" "00058" "00074831" "01695" "Unknown" "" "cone-rod dystrophy (HP:0000510); ophthalmoscopy revealed panretinal degeneration affecting the macula more severely (than in Stargardt disease?), patients had severely reduced full-field cone ERG amplitudes (reduced 90% or more), moderately reduced cone–rod ERG amplitudes (reduced approximately 50% or more), and markedly delayed cone implicit times (≥40 msec;normal, ≤32 msec)" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054607" "00420" "00074832" "01695" "Unknown" "" "Stargardt disease; reduced central visual acuity before age 30 and characteristic fundus changes of Stargardt macular degeneration, diagnostic fluorescein angiograms and/or ERGs consistent with the diagnosis of Stargardt macular degeneration, foveal ERGs were abnormal in every patient in whom they were measured and fluorescein angiography revealed a dark choroid in those patients so evaluated." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054608" "00420" "00074833" "01695" "Unknown" "" "Stargardt disease; reduced central visual acuity before age 30 and characteristic fundus changes of Stargardt macular degeneration, diagnostic fluorescein angiograms and/or ERGs consistent with the diagnosis of Stargardt macular degeneration, foveal ERGs were abnormal in every patient in whom they were measured and fluorescein angiography revealed a dark choroid in those patients so evaluated." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054609" "00420" "00074834" "01695" "Unknown" "" "Stargardt disease; reduced central visual acuity before age 30 and characteristic fundus changes of Stargardt macular degeneration, diagnostic fluorescein angiograms and/or ERGs consistent with the diagnosis of Stargardt macular degeneration, foveal ERGs were abnormal in every patient in whom they were measured and fluorescein angiography revealed a dark choroid in those patients so evaluated." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054610" "00420" "00074835" "01695" "Unknown" "" "Stargardt disease; reduced central visual acuity before age 30 and characteristic fundus changes of Stargardt macular degeneration, diagnostic fluorescein angiograms and/or ERGs consistent with the diagnosis of Stargardt macular degeneration, foveal ERGs were abnormal in every patient in whom they were measured and fluorescein angiography revealed a dark choroid in those patients so evaluated." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054611" "00420" "00074836" "01695" "Unknown" "" "Stargardt disease; reduced central visual acuity before age 30 and characteristic fundus changes of Stargardt macular degeneration, diagnostic fluorescein angiograms and/or ERGs consistent with the diagnosis of Stargardt macular degeneration, foveal ERGs were abnormal in every patient in whom they were measured and fluorescein angiography revealed a dark choroid in those patients so evaluated." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054612" "00058" "00074837" "01695" "Unknown" "" "cone-rod dystrophy (HP:0000510); ophthalmoscopy revealed panretinal degeneration affecting the macula more severely (than in Stargardt disease?), patients had severely reduced full-field cone ERG amplitudes (reduced 90% or more), moderately reduced cone–rod ERG amplitudes (reduced approximately 50% or more), and markedly delayed cone implicit times (≥40 msec;normal, ≤32 msec)" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054613" "00420" "00074838" "01695" "Unknown" "" "Stargardt disease; reduced central visual acuity before age 30 and characteristic fundus changes of Stargardt macular degeneration, diagnostic fluorescein angiograms and/or ERGs consistent with the diagnosis of Stargardt macular degeneration, foveal ERGs were abnormal in every patient in whom they were measured and fluorescein angiography revealed a dark choroid in those patients so evaluated." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054614" "00420" "00074839" "01695" "Unknown" "" "Stargardt disease; reduced central visual acuity before age 30 and characteristic fundus changes of Stargardt macular degeneration, diagnostic fluorescein angiograms and/or ERGs consistent with the diagnosis of Stargardt macular degeneration, foveal ERGs were abnormal in every patient in whom they were measured and fluorescein angiography revealed a dark choroid in those patients so evaluated." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054615" "00420" "00074840" "01695" "Unknown" "" "Stargardt disease; reduced central visual acuity before age 30 and characteristic fundus changes of Stargardt macular degeneration, diagnostic fluorescein angiograms and/or ERGs consistent with the diagnosis of Stargardt macular degeneration, foveal ERGs were abnormal in every patient in whom they were measured and fluorescein angiography revealed a dark choroid in those patients so evaluated." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054616" "00058" "00074841" "01695" "Unknown" "" "cone-rod dystrophy (HP:0000510); ophthalmoscopy revealed panretinal degeneration affecting the macula more severely (than in Stargardt disease?), patients had severely reduced full-field cone ERG amplitudes (reduced 90% or more), moderately reduced cone–rod ERG amplitudes (reduced approximately 50% or more), and markedly delayed cone implicit times (≥40 msec;normal, ≤32 msec)" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054617" "00420" "00074842" "01695" "Unknown" "" "Stargardt disease; reduced central visual acuity before age 30 and characteristic fundus changes of Stargardt macular degeneration, diagnostic fluorescein angiograms and/or ERGs consistent with the diagnosis of Stargardt macular degeneration, foveal ERGs were abnormal in every patient in whom they were measured and fluorescein angiography revealed a dark choroid in those patients so evaluated." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054618" "00420" "00074843" "01695" "Unknown" "" "Stargardt disease; reduced central visual acuity before age 30 and characteristic fundus changes of Stargardt macular degeneration, diagnostic fluorescein angiograms and/or ERGs consistent with the diagnosis of Stargardt macular degeneration, foveal ERGs were abnormal in every patient in whom they were measured and fluorescein angiography revealed a dark choroid in those patients so evaluated." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054619" "00420" "00074844" "01695" "Unknown" "" "Stargardt disease; reduced central visual acuity before age 30 and characteristic fundus changes of Stargardt macular degeneration, diagnostic fluorescein angiograms and/or ERGs consistent with the diagnosis of Stargardt macular degeneration, foveal ERGs were abnormal in every patient in whom they were measured and fluorescein angiography revealed a dark choroid in those patients so evaluated." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054620" "00058" "00074845" "01695" "Unknown" "" "cone-rod dystrophy (HP:0000510); ophthalmoscopy revealed panretinal degeneration affecting the macula more severely (than in Stargardt disease?), patients had severely reduced full-field cone ERG amplitudes (reduced 90% or more), moderately reduced cone–rod ERG amplitudes (reduced approximately 50% or more), and markedly delayed cone implicit times (≥40 msec;normal, ≤32 msec)" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054621" "00420" "00074846" "01695" "Familial, autosomal recessive" "" "Stargardt disease; reduced central visual acuity before age 30 and characteristic fundus changes of Stargardt macular degeneration, diagnostic fluorescein angiograms and/or ERGs consistent with the diagnosis of Stargardt macular degeneration, foveal ERGs were abnormal in every patient in whom they were measured and fluorescein angiography revealed a dark choroid in those patients so evaluated." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054622" "00420" "00074847" "01695" "Familial, autosomal recessive" "" "Stargardt disease; reduced central visual acuity before age 30 and characteristic fundus changes of Stargardt macular degeneration, diagnostic fluorescein angiograms and/or ERGs consistent with the diagnosis of Stargardt macular degeneration, foveal ERGs were abnormal in every patient in whom they were measured and fluorescein angiography revealed a dark choroid in those patients so evaluated." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054623" "00420" "00074848" "01695" "Unknown" "" "Stargardt disease; reduced central visual acuity before age 30 and characteristic fundus changes of Stargardt macular degeneration, diagnostic fluorescein angiograms and/or ERGs consistent with the diagnosis of Stargardt macular degeneration, foveal ERGs were abnormal in every patient in whom they were measured and fluorescein angiography revealed a dark choroid in those patients so evaluated." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054624" "00420" "00074849" "01695" "Unknown" "" "Stargardt disease; reduced central visual acuity before age 30 and characteristic fundus changes of Stargardt macular degeneration, diagnostic fluorescein angiograms and/or ERGs consistent with the diagnosis of Stargardt macular degeneration, foveal ERGs were abnormal in every patient in whom they were measured and fluorescein angiography revealed a dark choroid in those patients so evaluated." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054625" "00420" "00074850" "01695" "Unknown" "" "Stargardt disease; reduced central visual acuity before age 30 and characteristic fundus changes of Stargardt macular degeneration, diagnostic fluorescein angiograms and/or ERGs consistent with the diagnosis of Stargardt macular degeneration, foveal ERGs were abnormal in every patient in whom they were measured and fluorescein angiography revealed a dark choroid in those patients so evaluated." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054626" "00420" "00074851" "01695" "Unknown" "" "Stargardt disease; reduced central visual acuity before age 30 and characteristic fundus changes of Stargardt macular degeneration, diagnostic fluorescein angiograms and/or ERGs consistent with the diagnosis of Stargardt macular degeneration, foveal ERGs were abnormal in every patient in whom they were measured and fluorescein angiography revealed a dark choroid in those patients so evaluated." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054627" "00420" "00074852" "01695" "Unknown" "" "Stargardt disease; reduced central visual acuity before age 30 and characteristic fundus changes of Stargardt macular degeneration, diagnostic fluorescein angiograms and/or ERGs consistent with the diagnosis of Stargardt macular degeneration, foveal ERGs were abnormal in every patient in whom they were measured and fluorescein angiography revealed a dark choroid in those patients so evaluated." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054628" "00420" "00074853" "01695" "Unknown" "" "Stargardt disease; reduced central visual acuity before age 30 and characteristic fundus changes of Stargardt macular degeneration, diagnostic fluorescein angiograms and/or ERGs consistent with the diagnosis of Stargardt macular degeneration, foveal ERGs were abnormal in every patient in whom they were measured and fluorescein angiography revealed a dark choroid in those patients so evaluated." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054629" "00420" "00074854" "01695" "Unknown" "" "Stargardt disease; reduced central visual acuity before age 30 and characteristic fundus changes of Stargardt macular degeneration, diagnostic fluorescein angiograms and/or ERGs consistent with the diagnosis of Stargardt macular degeneration, foveal ERGs were abnormal in every patient in whom they were measured and fluorescein angiography revealed a dark choroid in those patients so evaluated." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054630" "00420" "00074855" "01695" "Unknown" "" "Stargardt disease; reduced central visual acuity before age 30 and characteristic fundus changes of Stargardt macular degeneration, diagnostic fluorescein angiograms and/or ERGs consistent with the diagnosis of Stargardt macular degeneration, foveal ERGs were abnormal in every patient in whom they were measured and fluorescein angiography revealed a dark choroid in those patients so evaluated." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054631" "00420" "00074856" "01695" "Familial, autosomal recessive" "" "Stargardt disease; reduced central visual acuity before age 30 and characteristic fundus changes of Stargardt macular degeneration, diagnostic fluorescein angiograms and/or ERGs consistent with the diagnosis of Stargardt macular degeneration, foveal ERGs were abnormal in every patient in whom they were measured and fluorescein angiography revealed a dark choroid in those patients so evaluated." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054632" "00420" "00074857" "01695" "Familial, autosomal recessive" "" "Stargardt disease; reduced central visual acuity before age 30 and characteristic fundus changes of Stargardt macular degeneration, diagnostic fluorescein angiograms and/or ERGs consistent with the diagnosis of Stargardt macular degeneration, foveal ERGs were abnormal in every patient in whom they were measured and fluorescein angiography revealed a dark choroid in those patients so evaluated." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054633" "00420" "00074858" "01695" "Familial, autosomal recessive" "" "Stargardt disease; reduced central visual acuity before age 30 and characteristic fundus changes of Stargardt macular degeneration, diagnostic fluorescein angiograms and/or ERGs consistent with the diagnosis of Stargardt macular degeneration, foveal ERGs were abnormal in every patient in whom they were measured and fluorescein angiography revealed a dark choroid in those patients so evaluated." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054634" "00420" "00074859" "01695" "Familial, autosomal recessive" "" "Stargardt disease; reduced central visual acuity before age 30 and characteristic fundus changes of Stargardt macular degeneration, diagnostic fluorescein angiograms and/or ERGs consistent with the diagnosis of Stargardt macular degeneration, foveal ERGs were abnormal in every patient in whom they were measured and fluorescein angiography revealed a dark choroid in those patients so evaluated." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054635" "00420" "00074860" "01695" "Familial, autosomal recessive" "" "Stargardt disease; reduced central visual acuity before age 30 and characteristic fundus changes of Stargardt macular degeneration, diagnostic fluorescein angiograms and/or ERGs consistent with the diagnosis of Stargardt macular degeneration, foveal ERGs were abnormal in every patient in whom they were measured and fluorescein angiography revealed a dark choroid in those patients so evaluated." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054636" "00420" "00074861" "01695" "Unknown" "" "Stargardt disease; reduced central visual acuity before age 30 and characteristic fundus changes of Stargardt macular degeneration, diagnostic fluorescein angiograms and/or ERGs consistent with the diagnosis of Stargardt macular degeneration, foveal ERGs were abnormal in every patient in whom they were measured and fluorescein angiography revealed a dark choroid in those patients so evaluated." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054637" "00420" "00074862" "01695" "Familial, autosomal recessive" "" "Stargardt disease; reduced central visual acuity before age 30 and characteristic fundus changes of Stargardt macular degeneration, diagnostic fluorescein angiograms and/or ERGs consistent with the diagnosis of Stargardt macular degeneration, foveal ERGs were abnormal in every patient in whom they were measured and fluorescein angiography revealed a dark choroid in those patients so evaluated." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054638" "00420" "00074863" "01695" "Familial, autosomal recessive" "" "Stargardt disease; reduced central visual acuity before age 30 and characteristic fundus changes of Stargardt macular degeneration, diagnostic fluorescein angiograms and/or ERGs consistent with the diagnosis of Stargardt macular degeneration, foveal ERGs were abnormal in every patient in whom they were measured and fluorescein angiography revealed a dark choroid in those patients so evaluated." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054639" "00420" "00074864" "01695" "Unknown" "" "Stargardt disease; reduced central visual acuity before age 30 and characteristic fundus changes of Stargardt macular degeneration, diagnostic fluorescein angiograms and/or ERGs consistent with the diagnosis of Stargardt macular degeneration, foveal ERGs were abnormal in every patient in whom they were measured and fluorescein angiography revealed a dark choroid in those patients so evaluated." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054640" "00420" "00074865" "01695" "Unknown" "" "Stargardt disease; reduced central visual acuity before age 30 and characteristic fundus changes of Stargardt macular degeneration, diagnostic fluorescein angiograms and/or ERGs consistent with the diagnosis of Stargardt macular degeneration, foveal ERGs were abnormal in every patient in whom they were measured and fluorescein angiography revealed a dark choroid in those patients so evaluated." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054641" "00420" "00074866" "01695" "Familial, autosomal recessive" "" "Stargardt disease; reduced central visual acuity before age 30 and characteristic fundus changes of Stargardt macular degeneration, diagnostic fluorescein angiograms and/or ERGs consistent with the diagnosis of Stargardt macular degeneration, foveal ERGs were abnormal in every patient in whom they were measured and fluorescein angiography revealed a dark choroid in those patients so evaluated." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054642" "00420" "00074867" "01695" "Unknown" "" "Stargardt disease; reduced central visual acuity before age 30 and characteristic fundus changes of Stargardt macular degeneration, diagnostic fluorescein angiograms and/or ERGs consistent with the diagnosis of Stargardt macular degeneration, foveal ERGs were abnormal in every patient in whom they were measured and fluorescein angiography revealed a dark choroid in those patients so evaluated." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054643" "00420" "00074868" "01695" "Unknown" "" "Stargardt disease; reduced central visual acuity before age 30 and characteristic fundus changes of Stargardt macular degeneration, diagnostic fluorescein angiograms and/or ERGs consistent with the diagnosis of Stargardt macular degeneration, foveal ERGs were abnormal in every patient in whom they were measured and fluorescein angiography revealed a dark choroid in those patients so evaluated." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054644" "00420" "00074869" "01695" "Familial, autosomal recessive" "" "Stargardt disease; reduced central visual acuity before age 30 and characteristic fundus changes of Stargardt macular degeneration, diagnostic fluorescein angiograms and/or ERGs consistent with the diagnosis of Stargardt macular degeneration, foveal ERGs were abnormal in every patient in whom they were measured and fluorescein angiography revealed a dark choroid in those patients so evaluated." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054645" "00420" "00074870" "01695" "Unknown" "" "Stargardt disease; reduced central visual acuity before age 30 and characteristic fundus changes of Stargardt macular degeneration, diagnostic fluorescein angiograms and/or ERGs consistent with the diagnosis of Stargardt macular degeneration, foveal ERGs were abnormal in every patient in whom they were measured and fluorescein angiography revealed a dark choroid in those patients so evaluated." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054646" "00420" "00074871" "01695" "Unknown" "" "Stargardt disease; reduced central visual acuity before age 30 and characteristic fundus changes of Stargardt macular degeneration, diagnostic fluorescein angiograms and/or ERGs consistent with the diagnosis of Stargardt macular degeneration, foveal ERGs were abnormal in every patient in whom they were measured and fluorescein angiography revealed a dark choroid in those patients so evaluated." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054647" "00420" "00074872" "01695" "Unknown" "" "Stargardt disease; reduced central visual acuity before age 30 and characteristic fundus changes of Stargardt macular degeneration, diagnostic fluorescein angiograms and/or ERGs consistent with the diagnosis of Stargardt macular degeneration, foveal ERGs were abnormal in every patient in whom they were measured and fluorescein angiography revealed a dark choroid in those patients so evaluated." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054648" "00420" "00074873" "01695" "Unknown" "" "Stargardt disease; reduced central visual acuity before age 30 and characteristic fundus changes of Stargardt macular degeneration, diagnostic fluorescein angiograms and/or ERGs consistent with the diagnosis of Stargardt macular degeneration, foveal ERGs were abnormal in every patient in whom they were measured and fluorescein angiography revealed a dark choroid in those patients so evaluated." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054649" "00420" "00074874" "01695" "Unknown" "" "Stargardt disease; reduced central visual acuity before age 30 and characteristic fundus changes of Stargardt macular degeneration, diagnostic fluorescein angiograms and/or ERGs consistent with the diagnosis of Stargardt macular degeneration, foveal ERGs were abnormal in every patient in whom they were measured and fluorescein angiography revealed a dark choroid in those patients so evaluated." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054650" "00420" "00074875" "01695" "Unknown" "" "Stargardt disease; reduced central visual acuity before age 30 and characteristic fundus changes of Stargardt macular degeneration, diagnostic fluorescein angiograms and/or ERGs consistent with the diagnosis of Stargardt macular degeneration, foveal ERGs were abnormal in every patient in whom they were measured and fluorescein angiography revealed a dark choroid in those patients so evaluated." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054651" "00420" "00074876" "01695" "Unknown" "" "Stargardt disease; reduced central visual acuity before age 30 and characteristic fundus changes of Stargardt macular degeneration, diagnostic fluorescein angiograms and/or ERGs consistent with the diagnosis of Stargardt macular degeneration, foveal ERGs were abnormal in every patient in whom they were measured and fluorescein angiography revealed a dark choroid in those patients so evaluated." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054652" "00420" "00074877" "01695" "Unknown" "" "Stargardt disease; reduced central visual acuity before age 30 and characteristic fundus changes of Stargardt macular degeneration, diagnostic fluorescein angiograms and/or ERGs consistent with the diagnosis of Stargardt macular degeneration, foveal ERGs were abnormal in every patient in whom they were measured and fluorescein angiography revealed a dark choroid in those patients so evaluated." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054653" "00420" "00074878" "01695" "Unknown" "" "Stargardt disease; reduced central visual acuity before age 30 and characteristic fundus changes of Stargardt macular degeneration, diagnostic fluorescein angiograms and/or ERGs consistent with the diagnosis of Stargardt macular degeneration, foveal ERGs were abnormal in every patient in whom they were measured and fluorescein angiography revealed a dark choroid in those patients so evaluated." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054654" "00420" "00074879" "01695" "Unknown" "" "Stargardt disease; reduced central visual acuity before age 30 and characteristic fundus changes of Stargardt macular degeneration, diagnostic fluorescein angiograms and/or ERGs consistent with the diagnosis of Stargardt macular degeneration, foveal ERGs were abnormal in every patient in whom they were measured and fluorescein angiography revealed a dark choroid in those patients so evaluated." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054655" "00420" "00074880" "01695" "Unknown" "" "Stargardt disease; reduced central visual acuity before age 30 and characteristic fundus changes of Stargardt macular degeneration, diagnostic fluorescein angiograms and/or ERGs consistent with the diagnosis of Stargardt macular degeneration, foveal ERGs were abnormal in every patient in whom they were measured and fluorescein angiography revealed a dark choroid in those patients so evaluated." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054656" "00420" "00074881" "01695" "Unknown" "" "Stargardt disease; reduced central visual acuity before age 30 and characteristic fundus changes of Stargardt macular degeneration, diagnostic fluorescein angiograms and/or ERGs consistent with the diagnosis of Stargardt macular degeneration, foveal ERGs were abnormal in every patient in whom they were measured and fluorescein angiography revealed a dark choroid in those patients so evaluated." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054657" "00420" "00074882" "01695" "Unknown" "" "Stargardt disease; reduced central visual acuity before age 30 and characteristic fundus changes of Stargardt macular degeneration, diagnostic fluorescein angiograms and/or ERGs consistent with the diagnosis of Stargardt macular degeneration, foveal ERGs were abnormal in every patient in whom they were measured and fluorescein angiography revealed a dark choroid in those patients so evaluated." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054658" "00420" "00074883" "01695" "Unknown" "" "Stargardt disease; reduced central visual acuity before age 30 and characteristic fundus changes of Stargardt macular degeneration, diagnostic fluorescein angiograms and/or ERGs consistent with the diagnosis of Stargardt macular degeneration, foveal ERGs were abnormal in every patient in whom they were measured and fluorescein angiography revealed a dark choroid in those patients so evaluated." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054659" "00420" "00074884" "01695" "Familial, autosomal recessive" "" "Stargardt disease; reduced central visual acuity before age 30 and characteristic fundus changes of Stargardt macular degeneration, diagnostic fluorescein angiograms and/or ERGs consistent with the diagnosis of Stargardt macular degeneration, foveal ERGs were abnormal in every patient in whom they were measured and fluorescein angiography revealed a dark choroid in those patients so evaluated." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054660" "00420" "00074885" "01695" "Familial, autosomal recessive" "" "Stargardt disease; reduced central visual acuity before age 30 and characteristic fundus changes of Stargardt macular degeneration, diagnostic fluorescein angiograms and/or ERGs consistent with the diagnosis of Stargardt macular degeneration, foveal ERGs were abnormal in every patient in whom they were measured and fluorescein angiography revealed a dark choroid in those patients so evaluated." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054661" "00420" "00074886" "01695" "Unknown" "" "Stargardt disease; reduced central visual acuity before age 30 and characteristic fundus changes of Stargardt macular degeneration, diagnostic fluorescein angiograms and/or ERGs consistent with the diagnosis of Stargardt macular degeneration, foveal ERGs were abnormal in every patient in whom they were measured and fluorescein angiography revealed a dark choroid in those patients so evaluated." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054662" "00420" "00074887" "01695" "Unknown" "" "Stargardt disease; reduced central visual acuity before age 30 and characteristic fundus changes of Stargardt macular degeneration, diagnostic fluorescein angiograms and/or ERGs consistent with the diagnosis of Stargardt macular degeneration, foveal ERGs were abnormal in every patient in whom they were measured and fluorescein angiography revealed a dark choroid in those patients so evaluated." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054663" "00420" "00074888" "01695" "Unknown" "" "Stargardt disease; reduced central visual acuity before age 30 and characteristic fundus changes of Stargardt macular degeneration, diagnostic fluorescein angiograms and/or ERGs consistent with the diagnosis of Stargardt macular degeneration, foveal ERGs were abnormal in every patient in whom they were measured and fluorescein angiography revealed a dark choroid in those patients so evaluated." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054664" "00420" "00074889" "01695" "Unknown" "" "Stargardt disease; reduced central visual acuity before age 30 and characteristic fundus changes of Stargardt macular degeneration, diagnostic fluorescein angiograms and/or ERGs consistent with the diagnosis of Stargardt macular degeneration, foveal ERGs were abnormal in every patient in whom they were measured and fluorescein angiography revealed a dark choroid in those patients so evaluated." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054665" "00420" "00074890" "01695" "Unknown" "" "Stargardt disease; reduced central visual acuity before age 30 and characteristic fundus changes of Stargardt macular degeneration, diagnostic fluorescein angiograms and/or ERGs consistent with the diagnosis of Stargardt macular degeneration, foveal ERGs were abnormal in every patient in whom they were measured and fluorescein angiography revealed a dark choroid in those patients so evaluated." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054666" "00420" "00074891" "01695" "Unknown" "" "Stargardt disease; reduced central visual acuity before age 30 and characteristic fundus changes of Stargardt macular degeneration, diagnostic fluorescein angiograms and/or ERGs consistent with the diagnosis of Stargardt macular degeneration, foveal ERGs were abnormal in every patient in whom they were measured and fluorescein angiography revealed a dark choroid in those patients so evaluated." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054667" "00420" "00074892" "01695" "Unknown" "" "Stargardt disease; reduced central visual acuity before age 30 and characteristic fundus changes of Stargardt macular degeneration, diagnostic fluorescein angiograms and/or ERGs consistent with the diagnosis of Stargardt macular degeneration, foveal ERGs were abnormal in every patient in whom they were measured and fluorescein angiography revealed a dark choroid in those patients so evaluated." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054668" "00420" "00074893" "01695" "Unknown" "" "Stargardt disease; reduced central visual acuity before age 30 and characteristic fundus changes of Stargardt macular degeneration, diagnostic fluorescein angiograms and/or ERGs consistent with the diagnosis of Stargardt macular degeneration, foveal ERGs were abnormal in every patient in whom they were measured and fluorescein angiography revealed a dark choroid in those patients so evaluated." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054669" "00420" "00074894" "01695" "Unknown" "" "Stargardt disease; reduced central visual acuity before age 30 and characteristic fundus changes of Stargardt macular degeneration, diagnostic fluorescein angiograms and/or ERGs consistent with the diagnosis of Stargardt macular degeneration, foveal ERGs were abnormal in every patient in whom they were measured and fluorescein angiography revealed a dark choroid in those patients so evaluated." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054670" "00420" "00074895" "01695" "Unknown" "" "Stargardt disease; reduced central visual acuity before age 30 and characteristic fundus changes of Stargardt macular degeneration, diagnostic fluorescein angiograms and/or ERGs consistent with the diagnosis of Stargardt macular degeneration, foveal ERGs were abnormal in every patient in whom they were measured and fluorescein angiography revealed a dark choroid in those patients so evaluated." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054671" "00420" "00074896" "01695" "Unknown" "" "Stargardt disease; reduced central visual acuity before age 30 and characteristic fundus changes of Stargardt macular degeneration, diagnostic fluorescein angiograms and/or ERGs consistent with the diagnosis of Stargardt macular degeneration, foveal ERGs were abnormal in every patient in whom they were measured and fluorescein angiography revealed a dark choroid in those patients so evaluated." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054672" "00420" "00074897" "01695" "Unknown" "" "Stargardt disease; reduced central visual acuity before age 30 and characteristic fundus changes of Stargardt macular degeneration, diagnostic fluorescein angiograms and/or ERGs consistent with the diagnosis of Stargardt macular degeneration, foveal ERGs were abnormal in every patient in whom they were measured and fluorescein angiography revealed a dark choroid in those patients so evaluated." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054673" "00420" "00074898" "01695" "Unknown" "" "Stargardt disease; reduced central visual acuity before age 30 and characteristic fundus changes of Stargardt macular degeneration, diagnostic fluorescein angiograms and/or ERGs consistent with the diagnosis of Stargardt macular degeneration, foveal ERGs were abnormal in every patient in whom they were measured and fluorescein angiography revealed a dark choroid in those patients so evaluated." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054674" "00420" "00074899" "01695" "Unknown" "" "Stargardt disease; reduced central visual acuity before age 30 and characteristic fundus changes of Stargardt macular degeneration, diagnostic fluorescein angiograms and/or ERGs consistent with the diagnosis of Stargardt macular degeneration, foveal ERGs were abnormal in every patient in whom they were measured and fluorescein angiography revealed a dark choroid in those patients so evaluated." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054675" "00420" "00074900" "01695" "Unknown" "" "Stargardt disease; reduced central visual acuity before age 30 and characteristic fundus changes of Stargardt macular degeneration, diagnostic fluorescein angiograms and/or ERGs consistent with the diagnosis of Stargardt macular degeneration, foveal ERGs were abnormal in every patient in whom they were measured and fluorescein angiography revealed a dark choroid in those patients so evaluated." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054676" "00420" "00074901" "01695" "Unknown" "" "Stargardt disease; reduced central visual acuity before age 30 and characteristic fundus changes of Stargardt macular degeneration, diagnostic fluorescein angiograms and/or ERGs consistent with the diagnosis of Stargardt macular degeneration, foveal ERGs were abnormal in every patient in whom they were measured and fluorescein angiography revealed a dark choroid in those patients so evaluated." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054677" "00420" "00074902" "01695" "Unknown" "" "Stargardt disease; reduced central visual acuity before age 30 and characteristic fundus changes of Stargardt macular degeneration, diagnostic fluorescein angiograms and/or ERGs consistent with the diagnosis of Stargardt macular degeneration, foveal ERGs were abnormal in every patient in whom they were measured and fluorescein angiography revealed a dark choroid in those patients so evaluated." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054678" "00420" "00074903" "01695" "Unknown" "" "Stargardt disease; reduced central visual acuity before age 30 and characteristic fundus changes of Stargardt macular degeneration, diagnostic fluorescein angiograms and/or ERGs consistent with the diagnosis of Stargardt macular degeneration, foveal ERGs were abnormal in every patient in whom they were measured and fluorescein angiography revealed a dark choroid in those patients so evaluated." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054679" "00420" "00074904" "01695" "Unknown" "" "Stargardt disease; reduced central visual acuity before age 30 and characteristic fundus changes of Stargardt macular degeneration, diagnostic fluorescein angiograms and/or ERGs consistent with the diagnosis of Stargardt macular degeneration, foveal ERGs were abnormal in every patient in whom they were measured and fluorescein angiography revealed a dark choroid in those patients so evaluated." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054680" "00420" "00074905" "01695" "Unknown" "" "Stargardt disease; reduced central visual acuity before age 30 and characteristic fundus changes of Stargardt macular degeneration, diagnostic fluorescein angiograms and/or ERGs consistent with the diagnosis of Stargardt macular degeneration, foveal ERGs were abnormal in every patient in whom they were measured and fluorescein angiography revealed a dark choroid in those patients so evaluated." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054681" "00420" "00074906" "01695" "Unknown" "" "Stargardt disease; reduced central visual acuity before age 30 and characteristic fundus changes of Stargardt macular degeneration, diagnostic fluorescein angiograms and/or ERGs consistent with the diagnosis of Stargardt macular degeneration, foveal ERGs were abnormal in every patient in whom they were measured and fluorescein angiography revealed a dark choroid in those patients so evaluated." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054682" "00058" "00074907" "01695" "Unknown" "" "cone-rod dystrophy (HP:0000510); ophthalmoscopy revealed panretinal degeneration affecting the macula more severely (than in Stargardt disease?), patients had severely reduced full-field cone ERG amplitudes (reduced 90% or more), moderately reduced cone–rod ERG amplitudes (reduced approximately 50% or more), and markedly delayed cone implicit times (≥40 msec;normal, ≤32 msec)" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054683" "00058" "00074908" "01695" "Unknown" "" "cone-rod dystrophy (HP:0000510); ophthalmoscopy revealed panretinal degeneration affecting the macula more severely (than in Stargardt disease?), patients had severely reduced full-field cone ERG amplitudes (reduced 90% or more), moderately reduced cone–rod ERG amplitudes (reduced approximately 50% or more), and markedly delayed cone implicit times (≥40 msec;normal, ≤32 msec)" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054684" "00058" "00074909" "01695" "Unknown" "" "cone-rod dystrophy (HP:0000510); ophthalmoscopy revealed panretinal degeneration affecting the macula more severely (than in Stargardt disease?), patients had severely reduced full-field cone ERG amplitudes (reduced 90% or more), moderately reduced cone–rod ERG amplitudes (reduced approximately 50% or more), and markedly delayed cone implicit times (≥40 msec;normal, ≤32 msec)" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054685" "00420" "00074910" "01695" "Unknown" "" "Stargardt disease; reduced central visual acuity before age 30 and characteristic fundus changes of Stargardt macular degeneration, diagnostic fluorescein angiograms and/or ERGs consistent with the diagnosis of Stargardt macular degeneration, foveal ERGs were abnormal in every patient in whom they were measured and fluorescein angiography revealed a dark choroid in those patients so evaluated." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054686" "00420" "00074911" "01695" "Unknown" "" "Stargardt disease; reduced central visual acuity before age 30 and characteristic fundus changes of Stargardt macular degeneration, diagnostic fluorescein angiograms and/or ERGs consistent with the diagnosis of Stargardt macular degeneration, foveal ERGs were abnormal in every patient in whom they were measured and fluorescein angiography revealed a dark choroid in those patients so evaluated." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054687" "00420" "00074912" "01695" "Unknown" "" "Stargardt disease; reduced central visual acuity before age 30 and characteristic fundus changes of Stargardt macular degeneration, diagnostic fluorescein angiograms and/or ERGs consistent with the diagnosis of Stargardt macular degeneration, foveal ERGs were abnormal in every patient in whom they were measured and fluorescein angiography revealed a dark choroid in those patients so evaluated." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054688" "00420" "00074913" "01695" "Unknown" "" "Stargardt disease; reduced central visual acuity before age 30 and characteristic fundus changes of Stargardt macular degeneration, diagnostic fluorescein angiograms and/or ERGs consistent with the diagnosis of Stargardt macular degeneration, foveal ERGs were abnormal in every patient in whom they were measured and fluorescein angiography revealed a dark choroid in those patients so evaluated." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054689" "00420" "00074914" "01695" "Unknown" "" "Stargardt disease; reduced central visual acuity before age 30 and characteristic fundus changes of Stargardt macular degeneration, diagnostic fluorescein angiograms and/or ERGs consistent with the diagnosis of Stargardt macular degeneration, foveal ERGs were abnormal in every patient in whom they were measured and fluorescein angiography revealed a dark choroid in those patients so evaluated." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054690" "00420" "00074915" "01695" "Unknown" "" "Stargardt disease; reduced central visual acuity before age 30 and characteristic fundus changes of Stargardt macular degeneration, diagnostic fluorescein angiograms and/or ERGs consistent with the diagnosis of Stargardt macular degeneration, foveal ERGs were abnormal in every patient in whom they were measured and fluorescein angiography revealed a dark choroid in those patients so evaluated." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054691" "00420" "00074916" "01695" "Familial, autosomal recessive" "" "Stargardt disease; reduced central visual acuity before age 30 and characteristic fundus changes of Stargardt macular degeneration, diagnostic fluorescein angiograms and/or ERGs consistent with the diagnosis of Stargardt macular degeneration, foveal ERGs were abnormal in every patient in whom they were measured and fluorescein angiography revealed a dark choroid in those patients so evaluated." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054692" "00420" "00074917" "01695" "Familial, autosomal recessive" "" "Stargardt disease; reduced central visual acuity before age 30 and characteristic fundus changes of Stargardt macular degeneration, diagnostic fluorescein angiograms and/or ERGs consistent with the diagnosis of Stargardt macular degeneration, foveal ERGs were abnormal in every patient in whom they were measured and fluorescein angiography revealed a dark choroid in those patients so evaluated." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054693" "00420" "00074918" "01695" "Unknown" "" "Stargardt disease; reduced central visual acuity before age 30 and characteristic fundus changes of Stargardt macular degeneration, diagnostic fluorescein angiograms and/or ERGs consistent with the diagnosis of Stargardt macular degeneration, foveal ERGs were abnormal in every patient in whom they were measured and fluorescein angiography revealed a dark choroid in those patients so evaluated." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054694" "00420" "00074919" "01695" "Unknown" "" "Stargardt disease; reduced central visual acuity before age 30 and characteristic fundus changes of Stargardt macular degeneration, diagnostic fluorescein angiograms and/or ERGs consistent with the diagnosis of Stargardt macular degeneration, foveal ERGs were abnormal in every patient in whom they were measured and fluorescein angiography revealed a dark choroid in those patients so evaluated." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054695" "00420" "00074920" "01695" "Unknown" "" "Stargardt disease; reduced central visual acuity before age 30 and characteristic fundus changes of Stargardt macular degeneration, diagnostic fluorescein angiograms and/or ERGs consistent with the diagnosis of Stargardt macular degeneration, foveal ERGs were abnormal in every patient in whom they were measured and fluorescein angiography revealed a dark choroid in those patients so evaluated." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054696" "00420" "00074921" "01695" "Unknown" "" "Stargardt disease; reduced central visual acuity before age 30 and characteristic fundus changes of Stargardt macular degeneration, diagnostic fluorescein angiograms and/or ERGs consistent with the diagnosis of Stargardt macular degeneration, foveal ERGs were abnormal in every patient in whom they were measured and fluorescein angiography revealed a dark choroid in those patients so evaluated." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054697" "00420" "00074922" "01695" "Unknown" "" "Stargardt disease; reduced central visual acuity before age 30 and characteristic fundus changes of Stargardt macular degeneration, diagnostic fluorescein angiograms and/or ERGs consistent with the diagnosis of Stargardt macular degeneration, foveal ERGs were abnormal in every patient in whom they were measured and fluorescein angiography revealed a dark choroid in those patients so evaluated." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054698" "00420" "00074923" "01695" "Unknown" "" "Stargardt disease; reduced central visual acuity before age 30 and characteristic fundus changes of Stargardt macular degeneration, diagnostic fluorescein angiograms and/or ERGs consistent with the diagnosis of Stargardt macular degeneration, foveal ERGs were abnormal in every patient in whom they were measured and fluorescein angiography revealed a dark choroid in those patients so evaluated." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054699" "00420" "00074924" "01695" "Unknown" "" "Stargardt disease; reduced central visual acuity before age 30 and characteristic fundus changes of Stargardt macular degeneration, diagnostic fluorescein angiograms and/or ERGs consistent with the diagnosis of Stargardt macular degeneration, foveal ERGs were abnormal in every patient in whom they were measured and fluorescein angiography revealed a dark choroid in those patients so evaluated." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054700" "00058" "00074925" "01695" "Unknown" "" "cone-rod dystrophy (HP:0000510); ophthalmoscopy revealed panretinal degeneration affecting the macula more severely (than in Stargardt disease?), patients had severely reduced full-field cone ERG amplitudes (reduced 90% or more), moderately reduced cone–rod ERG amplitudes (reduced approximately 50% or more), and markedly delayed cone implicit times (≥40 msec;normal, ≤32 msec)" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054701" "00420" "00074926" "01695" "Unknown" "" "Stargardt disease; reduced central visual acuity before age 30 and characteristic fundus changes of Stargardt macular degeneration, diagnostic fluorescein angiograms and/or ERGs consistent with the diagnosis of Stargardt macular degeneration, foveal ERGs were abnormal in every patient in whom they were measured and fluorescein angiography revealed a dark choroid in those patients so evaluated." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054702" "00420" "00074927" "01695" "Unknown" "" "Stargardt disease; reduced central visual acuity before age 30 and characteristic fundus changes of Stargardt macular degeneration, diagnostic fluorescein angiograms and/or ERGs consistent with the diagnosis of Stargardt macular degeneration, foveal ERGs were abnormal in every patient in whom they were measured and fluorescein angiography revealed a dark choroid in those patients so evaluated." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054703" "00420" "00074928" "01695" "Unknown" "" "Stargardt disease; reduced central visual acuity before age 30 and characteristic fundus changes of Stargardt macular degeneration, diagnostic fluorescein angiograms and/or ERGs consistent with the diagnosis of Stargardt macular degeneration, foveal ERGs were abnormal in every patient in whom they were measured and fluorescein angiography revealed a dark choroid in those patients so evaluated." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054704" "00420" "00074929" "01695" "Unknown" "" "Stargardt disease; reduced central visual acuity before age 30 and characteristic fundus changes of Stargardt macular degeneration, diagnostic fluorescein angiograms and/or ERGs consistent with the diagnosis of Stargardt macular degeneration, foveal ERGs were abnormal in every patient in whom they were measured and fluorescein angiography revealed a dark choroid in those patients so evaluated." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054705" "00420" "00074930" "01695" "Unknown" "" "Stargardt disease; reduced central visual acuity before age 30 and characteristic fundus changes of Stargardt macular degeneration, diagnostic fluorescein angiograms and/or ERGs consistent with the diagnosis of Stargardt macular degeneration, foveal ERGs were abnormal in every patient in whom they were measured and fluorescein angiography revealed a dark choroid in those patients so evaluated." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054706" "00420" "00074931" "01695" "Familial, autosomal recessive" "" "Stargardt disease;" "30y" "" "unknown" "" "" "" "" "" "" "" ""
"0000054707" "00420" "00074932" "01695" "Familial, autosomal recessive" "" "Stargardt disease; an ophtalmoscopically characteristic retinal disorder, bilateral central visual loss with both \"beaten metal\" elliptical foveal dystrophy and temporal pallor of the optic discs, documented by retinal color photography, characteristic fluorescein angiographic feature of a dark choroid" "8y" "" "unknown" "" "" "" "" "" "" "" ""
"0000054708" "00420" "00074933" "01695" "Familial, autosomal recessive" "" "Stargardt disease;" "9y" "" "unknown" "" "" "" "" "" "" "" ""
"0000054709" "00420" "00074934" "01695" "Familial, autosomal recessive" "" "Stargardt disease;" "14y" "" "unknown" "" "" "" "" "" "" "" ""
"0000054710" "00420" "00074935" "01695" "Unknown" "" "Stargardt disease; an ophtalmoscopically characteristic retinal disorder, bilateral central visual loss with both \"beaten metal\" elliptical foveal dystrophy and temporal pallor of the optic discs, documented by retinal color photography, characteristic fluorescein angiographic feature of a dark choroid" "<15y" "" "unknown" "" "" "" "" "" "" "" ""
"0000054711" "00420" "00074936" "01695" "Unknown" "" "Stargardt disease; an ophtalmoscopically characteristic retinal disorder, bilateral central visual loss with both \"beaten metal\" elliptical foveal dystrophy and temporal pallor of the optic discs, documented by retinal color photography, characteristic fluorescein angiographic feature of a dark choroid" "<15y" "" "unknown" "" "" "" "" "" "" "" ""
"0000054712" "00420" "00074937" "01695" "Unknown" "" "Stargardt disease; an ophtalmoscopically characteristic retinal disorder, bilateral central visual loss with both \"beaten metal\" elliptical foveal dystrophy and temporal pallor of the optic discs, documented by retinal color photography, characteristic fluorescein angiographic feature of a dark choroid" "16y" "" "unknown" "" "" "" "" "" "" "" ""
"0000054713" "00420" "00074938" "01695" "Unknown" "" "Stargardt disease; an ophtalmoscopically characteristic retinal disorder, bilateral central visual loss with both \"beaten metal\" elliptical foveal dystrophy and temporal pallor of the optic discs, documented by retinal color photography, characteristic fluorescein angiographic feature of a dark choroid" "18y" "" "unknown" "" "" "" "" "" "" "" ""
"0000054714" "00420" "00074939" "01695" "Unknown" "" "Stargardt disease; an ophtalmoscopically characteristic retinal disorder, bilateral central visual loss with both \"beaten metal\" elliptical foveal dystrophy and temporal pallor of the optic discs, documented by retinal color photography, characteristic fluorescein angiographic feature of a dark choroid" "25y" "" "unknown" "" "" "" "" "" "" "" ""
"0000054715" "00420" "00074940" "01695" "Unknown" "" "Stargardt disease; an ophtalmoscopically characteristic retinal disorder, bilateral central visual loss with both \"beaten metal\" elliptical foveal dystrophy and temporal pallor of the optic discs, documented by retinal color photography, characteristic fluorescein angiographic feature of a dark choroid" "39y" "" "unknown" "" "" "" "" "" "" "" ""
"0000054716" "00420" "00074941" "01695" "Unknown" "" "Stargardt disease; an ophtalmoscopically characteristic retinal disorder, bilateral central visual loss with both \"beaten metal\" elliptical foveal dystrophy and temporal pallor of the optic discs, documented by retinal color photography, characteristic fluorescein angiographic feature of a dark choroid" "6y" "" "unknown" "" "" "" "" "" "" "" ""
"0000054717" "00420" "00074942" "01695" "Unknown" "" "Stargardt disease; an ophtalmoscopically characteristic retinal disorder, bilateral central visual loss with both \"beaten metal\" elliptical foveal dystrophy and temporal pallor of the optic discs, documented by retinal color photography, characteristic fluorescein angiographic feature of a dark choroid" "6y" "" "unknown" "" "" "" "" "" "" "" ""
"0000054718" "00420" "00074943" "01695" "Unknown" "" "Stargardt disease; an ophtalmoscopically characteristic retinal disorder, bilateral central visual loss with both \"beaten metal\" elliptical foveal dystrophy and temporal pallor of the optic discs, documented by retinal color photography, characteristic fluorescein angiographic feature of a dark choroid" "7y" "" "unknown" "" "" "" "" "" "" "" ""
"0000054719" "00420" "00074944" "01695" "Unknown" "" "Stargardt disease; an ophtalmoscopically characteristic retinal disorder, bilateral central visual loss with both \"beaten metal\" elliptical foveal dystrophy and temporal pallor of the optic discs, documented by retinal color photography, characteristic fluorescein angiographic feature of a dark choroid" "8y" "" "unknown" "" "" "" "" "" "" "" ""
"0000054720" "00420" "00074945" "01695" "Unknown" "" "Stargardt disease; an ophtalmoscopically characteristic retinal disorder, bilateral central visual loss with both \"beaten metal\" elliptical foveal dystrophy and temporal pallor of the optic discs, documented by retinal color photography, characteristic fluorescein angiographic feature of a dark choroid" "14y" "" "unknown" "" "" "" "" "" "" "" ""
"0000054721" "00420" "00074946" "01695" "Unknown" "" "Stargardt disease; an ophtalmoscopically characteristic retinal disorder, bilateral central visual loss with both \"beaten metal\" elliptical foveal dystrophy and temporal pallor of the optic discs, documented by retinal color photography, characteristic fluorescein angiographic feature of a dark choroid" "20y" "" "unknown" "" "" "" "" "" "" "" ""
"0000054722" "00420" "00074947" "01695" "Unknown" "" "Stargardt disease; an ophtalmoscopically characteristic retinal disorder, bilateral central visual loss with both \"beaten metal\" elliptical foveal dystrophy and temporal pallor of the optic discs, documented by retinal color photography, characteristic fluorescein angiographic feature of a dark choroid" "20y" "" "unknown" "" "" "" "" "" "" "" ""
"0000054723" "00420" "00074948" "01695" "Unknown" "" "Stargardt disease; an ophtalmoscopically characteristic retinal disorder, bilateral central visual loss with both \"beaten metal\" elliptical foveal dystrophy and temporal pallor of the optic discs, documented by retinal color photography, characteristic fluorescein angiographic feature of a dark choroid" "25y" "" "unknown" "" "" "" "" "" "" "" ""
"0000054724" "00420" "00074949" "01695" "Unknown" "" "Stargardt disease; an ophtalmoscopically characteristic retinal disorder, bilateral central visual loss with both \"beaten metal\" elliptical foveal dystrophy and temporal pallor of the optic discs, documented by retinal color photography, characteristic fluorescein angiographic feature of a dark choroid" "6y" "" "unknown" "" "" "" "" "" "" "" ""
"0000054725" "00420" "00074950" "01695" "Unknown" "" "Stargardt disease; an ophtalmoscopically characteristic retinal disorder, bilateral central visual loss with both \"beaten metal\" elliptical foveal dystrophy and temporal pallor of the optic discs, documented by retinal color photography, characteristic fluorescein angiographic feature of a dark choroid" "8y" "" "unknown" "" "" "" "" "" "" "" ""
"0000054726" "00420" "00074951" "01695" "Unknown" "" "Stargardt disease; an ophtalmoscopically characteristic retinal disorder, bilateral central visual loss with both \"beaten metal\" elliptical foveal dystrophy and temporal pallor of the optic discs, documented by retinal color photography, characteristic fluorescein angiographic feature of a dark choroid" "8y" "" "unknown" "" "" "" "" "" "" "" ""
"0000054727" "00420" "00074952" "01695" "Unknown" "" "Stargardt disease; an ophtalmoscopically characteristic retinal disorder, bilateral central visual loss with both \"beaten metal\" elliptical foveal dystrophy and temporal pallor of the optic discs, documented by retinal color photography, characteristic fluorescein angiographic feature of a dark choroid" "9y" "" "unknown" "" "" "" "" "" "" "" ""
"0000054728" "00420" "00074953" "01695" "Unknown" "" "Stargardt disease; an ophtalmoscopically characteristic retinal disorder, bilateral central visual loss with both \"beaten metal\" elliptical foveal dystrophy and temporal pallor of the optic discs, documented by retinal color photography, characteristic fluorescein angiographic feature of a dark choroid" "10y" "" "unknown" "" "" "" "" "" "" "" ""
"0000054729" "00420" "00074954" "01695" "Unknown" "" "Stargardt disease; an ophtalmoscopically characteristic retinal disorder, bilateral central visual loss with both \"beaten metal\" elliptical foveal dystrophy and temporal pallor of the optic discs, documented by retinal color photography, characteristic fluorescein angiographic feature of a dark choroid" "12y" "" "unknown" "" "" "" "" "" "" "" ""
"0000054730" "00420" "00074955" "01695" "Unknown" "" "Stargardt disease; an ophtalmoscopically characteristic retinal disorder, bilateral central visual loss with both \"beaten metal\" elliptical foveal dystrophy and temporal pallor of the optic discs, documented by retinal color photography, characteristic fluorescein angiographic feature of a dark choroid" "13y" "" "unknown" "" "" "" "" "" "" "" ""
"0000054731" "00420" "00074956" "01695" "Unknown" "" "Stargardt disease; an ophtalmoscopically characteristic retinal disorder, bilateral central visual loss with both \"beaten metal\" elliptical foveal dystrophy and temporal pallor of the optic discs, documented by retinal color photography, characteristic fluorescein angiographic feature of a dark choroid" "19y" "" "unknown" "" "" "" "" "" "" "" ""
"0000054732" "00420" "00074957" "01695" "Unknown" "" "Stargardt disease; an ophtalmoscopically characteristic retinal disorder, bilateral central visual loss with both \"beaten metal\" elliptical foveal dystrophy and temporal pallor of the optic discs, documented by retinal color photography, characteristic fluorescein angiographic feature of a dark choroid" "9y" "" "unknown" "" "" "" "" "" "" "" ""
"0000054733" "00420" "00074958" "01695" "Unknown" "" "Stargardt disease; an ophtalmoscopically characteristic retinal disorder, bilateral central visual loss with both \"beaten metal\" elliptical foveal dystrophy and temporal pallor of the optic discs, documented by retinal color photography, characteristic fluorescein angiographic feature of a dark choroid" "9y" "" "unknown" "" "" "" "" "" "" "" ""
"0000054734" "00420" "00074959" "01695" "Unknown" "" "Stargardt disease; an ophtalmoscopically characteristic retinal disorder, bilateral central visual loss with both \"beaten metal\" elliptical foveal dystrophy and temporal pallor of the optic discs, documented by retinal color photography, characteristic fluorescein angiographic feature of a dark choroid" "19y" "" "unknown" "" "" "" "" "" "" "" ""
"0000054735" "00420" "00074960" "01695" "Unknown" "" "Stargardt disease; an ophtalmoscopically characteristic retinal disorder, bilateral central visual loss with both \"beaten metal\" elliptical foveal dystrophy and temporal pallor of the optic discs, documented by retinal color photography, characteristic fluorescein angiographic feature of a dark choroid" "19y" "" "unknown" "" "" "" "" "" "" "" ""
"0000054736" "00420" "00074961" "01695" "Unknown" "" "Stargardt disease; an ophtalmoscopically characteristic retinal disorder, bilateral central visual loss with both \"beaten metal\" elliptical foveal dystrophy and temporal pallor of the optic discs, documented by retinal color photography, characteristic fluorescein angiographic feature of a dark choroid" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054737" "00420" "00074962" "01695" "Unknown" "" "Stargardt disease; an ophtalmoscopically characteristic retinal disorder, bilateral central visual loss with both \"beaten metal\" elliptical foveal dystrophy and temporal pallor of the optic discs, documented by retinal color photography, characteristic fluorescein angiographic feature of a dark choroid" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054738" "00420" "00074963" "01695" "Unknown" "" "Stargardt disease; an ophtalmoscopically characteristic retinal disorder, bilateral central visual loss with both \"beaten metal\" elliptical foveal dystrophy and temporal pallor of the optic discs, documented by retinal color photography, characteristic fluorescein angiographic feature of a dark choroid" "40y" "" "unknown" "" "" "" "" "" "" "" ""
"0000054739" "00420" "00074964" "01695" "Unknown" "" "Stargardt disease; an ophtalmoscopically characteristic retinal disorder, bilateral central visual loss with both \"beaten metal\" elliptical foveal dystrophy and temporal pallor of the optic discs, documented by retinal color photography, characteristic fluorescein angiographic feature of a dark choroid" "11y" "" "unknown" "" "" "" "" "" "" "" ""
"0000054740" "00420" "00074965" "01695" "Unknown" "" "Stargardt disease; an ophtalmoscopically characteristic retinal disorder, bilateral central visual loss with both \"beaten metal\" elliptical foveal dystrophy and temporal pallor of the optic discs, documented by retinal color photography, characteristic fluorescein angiographic feature of a dark choroid" "32y" "" "unknown" "" "" "" "" "" "" "" ""
"0000054741" "00420" "00074966" "01695" "Unknown" "" "Stargardt disease; an ophtalmoscopically characteristic retinal disorder, bilateral central visual loss with both \"beaten metal\" elliptical foveal dystrophy and temporal pallor of the optic discs, documented by retinal color photography, characteristic fluorescein angiographic feature of a dark choroid" "11y" "" "unknown" "" "" "" "" "" "" "" ""
"0000054742" "00420" "00074967" "01695" "Unknown" "" "Stargardt disease; an ophtalmoscopically characteristic retinal disorder, bilateral central visual loss with both \"beaten metal\" elliptical foveal dystrophy and temporal pallor of the optic discs, documented by retinal color photography, characteristic fluorescein angiographic feature of a dark choroid" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054743" "00420" "00074968" "01695" "Unknown" "" "Stargardt disease; an ophtalmoscopically characteristic retinal disorder, bilateral central visual loss with both \"beaten metal\" elliptical foveal dystrophy and temporal pallor of the optic discs, documented by retinal color photography, characteristic fluorescein angiographic feature of a dark choroid" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054744" "00420" "00074969" "01695" "Unknown" "" "Stargardt disease; an ophtalmoscopically characteristic retinal disorder, bilateral central visual loss with both \"beaten metal\" elliptical foveal dystrophy and temporal pallor of the optic discs, documented by retinal color photography, characteristic fluorescein angiographic feature of a dark choroid" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054745" "00420" "00074970" "01695" "Isolated (sporadic)" "" "Stargardt disease; an ophtalmoscopically characteristic retinal disorder, bilateral central visual loss with both \"beaten metal\" elliptical foveal dystrophy and temporal pallor of the optic discs, documented by retinal color photography, characteristic fluorescein angiographic feature of a dark choroid" "17y" "" "unknown" "" "" "" "" "" "" "" ""
"0000054746" "00420" "00074971" "01695" "Unknown" "" "Stargardt disease; an ophtalmoscopically characteristic retinal disorder, bilateral central visual loss with both \"beaten metal\" elliptical foveal dystrophy and temporal pallor of the optic discs, documented by retinal color photography, characteristic fluorescein angiographic feature of a dark choroid" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054747" "00420" "00074972" "01695" "Unknown" "" "Stargardt disease; an ophtalmoscopically characteristic retinal disorder, bilateral central visual loss with both \"beaten metal\" elliptical foveal dystrophy and temporal pallor of the optic discs, documented by retinal color photography, characteristic fluorescein angiographic feature of a dark choroid" "14y" "" "unknown" "" "" "" "" "" "" "" ""
"0000054748" "00420" "00074973" "01695" "Unknown" "" "Stargardt disease; an ophtalmoscopically characteristic retinal disorder, bilateral central visual loss with both \"beaten metal\" elliptical foveal dystrophy and temporal pallor of the optic discs, documented by retinal color photography, characteristic fluorescein angiographic feature of a dark choroid" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054749" "00420" "00074974" "01695" "Familial, autosomal recessive" "" "Stargardt disease; an ophtalmoscopically characteristic retinal disorder, bilateral central visual loss with both \"beaten metal\" elliptical foveal dystrophy and temporal pallor of the optic discs, documented by retinal color photography, characteristic fluorescein angiographic feature of a dark choroid" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054750" "00420" "00074975" "01695" "Familial, autosomal recessive" "" "Stargardt disease; an ophtalmoscopically characteristic retinal disorder, bilateral central visual loss with both \"beaten metal\" elliptical foveal dystrophy and temporal pallor of the optic discs, documented by retinal color photography, characteristic fluorescein angiographic feature of a dark choroid" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054751" "00420" "00074976" "01695" "Familial, autosomal recessive" "" "Stargardt disease; an ophtalmoscopically characteristic retinal disorder, bilateral central visual loss with both \"beaten metal\" elliptical foveal dystrophy and temporal pallor of the optic discs, documented by retinal color photography, characteristic fluorescein angiographic feature of a dark choroid" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054752" "00420" "00074977" "01695" "Unknown" "" "Stargardt disease; an ophtalmoscopically characteristic retinal disorder, bilateral central visual loss with both \"beaten metal\" elliptical foveal dystrophy and temporal pallor of the optic discs, documented by retinal color photography, characteristic fluorescein angiographic feature of a dark choroid" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054753" "00420" "00074978" "01695" "Unknown" "" "Stargardt disease; an ophtalmoscopically characteristic retinal disorder, bilateral central visual loss with both \"beaten metal\" elliptical foveal dystrophy and temporal pallor of the optic discs, documented by retinal color photography, characteristic fluorescein angiographic feature of a dark choroid" "6y" "" "unknown" "" "" "" "" "" "" "" ""
"0000054754" "00420" "00074979" "01695" "Unknown" "" "Stargardt disease; an ophtalmoscopically characteristic retinal disorder, bilateral central visual loss with both \"beaten metal\" elliptical foveal dystrophy and temporal pallor of the optic discs, documented by retinal color photography, characteristic fluorescein angiographic feature of a dark choroid" "6y" "" "unknown" "" "" "" "" "" "" "" ""
"0000054755" "04214" "00074980" "01695" "Isolated (sporadic)" "" "retinitis pigmentosa" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000054756" "04214" "00074981" "01695" "Isolated (sporadic)" "" "retinitis pigmentosa" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000054757" "00198" "00074982" "01695" "Isolated (sporadic)" "" "cone or cone-rod dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054758" "00198" "00074983" "01695" "Familial, autosomal recessive" "" "cone or cone-rod dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054759" "00198" "00074984" "01695" "Familial, autosomal recessive" "" "cone or cone-rod dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054760" "00198" "00074985" "01695" "Unknown" "" "cone or cone-rod dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054761" "00198" "00074986" "01695" "Isolated (sporadic)" "" "cone or cone-rod dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054762" "00198" "00074987" "01695" "Unknown" "" "cone or cone-rod dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054763" "00198" "00074988" "01695" "Isolated (sporadic)" "" "cone or cone-rod dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054764" "00198" "00074989" "01695" "Isolated (sporadic)" "" "cone or cone-rod dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054765" "00198" "00074990" "01695" "Familial, autosomal recessive" "" "cone or cone-rod dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054766" "00198" "00074991" "01695" "Familial, autosomal recessive" "" "cone or cone-rod dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054767" "00198" "00074992" "01695" "Familial, autosomal recessive" "" "cone or cone-rod dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054768" "00198" "00074993" "01695" "Isolated (sporadic)" "" "cone or cone-rod dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054769" "00198" "00074994" "01695" "Isolated (sporadic)" "" "cone or cone-rod dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054770" "00198" "00074995" "01695" "Familial, autosomal recessive" "" "cone or cone-rod dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054771" "00198" "00074996" "01695" "Familial, autosomal recessive" "" "cone or cone-rod dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054772" "00198" "00074997" "01695" "Familial, autosomal recessive" "" "cone or cone-rod dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054773" "00198" "00074998" "01695" "Familial, autosomal recessive" "" "cone or cone-rod dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054774" "00198" "00074999" "01695" "Familial, autosomal recessive" "" "cone or cone-rod dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054775" "00198" "00075000" "01695" "Isolated (sporadic)" "" "cone or cone-rod dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054776" "00198" "00075001" "01695" "Isolated (sporadic)" "" "cone or cone-rod dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054777" "00198" "00075002" "01695" "Isolated (sporadic)" "" "cone or cone-rod dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054778" "00198" "00075003" "01695" "Isolated (sporadic)" "" "cone or cone-rod dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054779" "00198" "00075004" "01695" "Isolated (sporadic)" "" "cone or cone-rod dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054780" "00198" "00075005" "01695" "Isolated (sporadic)" "" "cone or cone-rod dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054781" "00198" "00075006" "01695" "Isolated (sporadic)" "" "cone or cone-rod dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054782" "00420" "00075007" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054783" "00420" "00075008" "01695" "Unknown" "" "Stargardt disease" "38y" "" "unknown" "" "" "" "" "" "" "" ""
"0000054784" "04214" "00075009" "01695" "Familial, autosomal recessive" "" "retinitis pigmentosa" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000054785" "04214" "00075010" "01695" "Familial, autosomal recessive" "" "retinitis pigmentosa" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000054786" "04214" "00075011" "01695" "Familial, autosomal recessive" "" "retinitis pigmentosa" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000054787" "04214" "00075012" "01695" "Familial, autosomal recessive" "" "retinitis pigmentosa" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000054788" "04214" "00075013" "01695" "Familial, autosomal recessive" "" "retinitis pigmentosa" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000054789" "04214" "00075014" "01695" "Familial, autosomal recessive" "" "retinitis pigmentosa" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000054790" "00058" "00075015" "01695" "Familial, autosomal recessive" "" "cone-rod dystrophy (HP:0000510); dystrophy in the cone and rod systems," "12y" "" "decrease in visual-acuity" "" "" "" "" "" "" "" ""
"0000054791" "00058" "00075016" "01695" "Familial, autosomal recessive" "" "cone-rod dystrophy (HP:0000510); dystrophy in the cone and rod systems," "20y" "" "decrease in visual-acuity" "" "" "" "" "" "" "" ""
"0000054792" "04214" "00075017" "01695" "Familial, autosomal recessive" "" "retinitis pigmentosa; The ERG responses of the rods and cones were hardly detectable or extinguished. These sibs had marked chorioretinal atrophy of the posterior pole, a ‘waxy’ pallor of the optic disk, attenuated retinal vessels and bone spicules in the (mid)periphery of the retina." "6y" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000054793" "00058" "00075018" "01695" "Familial, autosomal recessive" "" "cone-rod dystrophy (HP:0000510); dystrophy in the cone and rod systems, central scotoma and constriction of the peripheral visual field, funduscopy showed marked chorioretinal atrophy of the macula" "15y" "" "decrease in visual-acuity" "" "" "" "" "" "" "" ""
"0000054794" "04214" "00075019" "01695" "Familial, autosomal recessive" "" "retinitis pigmentosa; The ERG responses of the rods and cones were hardly detectable or extinguished. These sibs had marked chorioretinal atrophy of the posterior pole, a ‘waxy’ pallor of the optic disk, attenuated retinal vessels and bone spicules in the (mid)periphery of the retina." "6y" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000054795" "04214" "00075020" "01695" "Familial, autosomal recessive" "" "retinitis pigmentosa; The ERG responses of the rods and cones were hardly detectable or extinguished. These sibs had marked chorioretinal atrophy of the posterior pole, a ‘waxy’ pallor of the optic disk, attenuated retinal vessels and bone spicules in the (mid)periphery of the retina." "6y" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000054796" "00058" "00075021" "01695" "Familial, autosomal recessive" "" "cone-rod dystrophy (HP:0000510); dystrophy in the cone and rod systems, funduscopy showed marked chorioretinal atrophy of the macula" "12y" "" "decreased visual-acuity" "" "" "" "" "" "" "" ""
"0000054797" "00058" "00075022" "01695" "Familial, autosomal recessive" "" "cone-rod dystrophy (HP:0000510); dystrophy in the cone and rod systems, central scotoma and constriction of the peripheral visual field, funduscopy showed marked chorioretinal atrophy of the macula" "12y" "" "grey spot in the central field of vision" "" "" "" "" "" "" "" ""
"0000054798" "04214" "00075023" "01695" "Familial, autosomal recessive" "" "retinitis pigmentosa; The ERG responses of the rods and cones were hardly detectable or extinguished. These sibs had marked chorioretinal atrophy of the posterior pole, a ‘waxy’ pallor of the optic disk, attenuated retinal vessels and bone spicules in the (mid)periphery of the retina." "6y" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000054799" "00420" "00075024" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054800" "00420" "00075025" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054801" "00420" "00075026" "01695" "Familial, autosomal recessive" "" "Stargardt disease; presence of fundus flavimaculatus with yellow “flecks” in the macular and paramacular area when patients were seen at a younger age,the presence of the typical dark choroid on fluorescein angiography, abnormal dark-adapted amplitudes of the ERG recordings in advanced cases, mottled pigmentation of the macula" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054802" "00420" "00075027" "01695" "Familial, autosomal recessive" "" "Stargardt disease; presence of fundus flavimaculatus with yellow “flecks” in the macular and paramacular area when patients were seen at a younger age,the presence of the typical dark choroid on fluorescein angiography, abnormal dark-adapted amplitudes of the ERG recordings in advanced cases, mottled pigmentation of the macula" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054803" "00420" "00075028" "01695" "Familial, autosomal recessive" "" "Stargardt disease; presence of fundus flavimaculatus with yellow “flecks” in the macular and paramacular area when patients were seen at a younger age,the presence of the typical dark choroid on fluorescein angiography, abnormal dark-adapted amplitudes of the ERG recordings in advanced cases, mottled pigmentation of the macula" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054804" "00420" "00075029" "01695" "Familial, autosomal recessive" "" "Stargardt disease; presence of fundus flavimaculatus with yellow “flecks” in the macular and paramacular area when patients were seen at a younger age,the presence of the typical dark choroid on fluorescein angiography, abnormal dark-adapted amplitudes of the ERG recordings in advanced cases, mottled pigmentation of the macula" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054805" "00420" "00075030" "01695" "Familial, autosomal recessive" "" "Stargardt disease; presence of fundus flavimaculatus with yellow “flecks” in the macular and paramacular area when patients were seen at a younger age,the presence of the typical dark choroid on fluorescein angiography, abnormal dark-adapted amplitudes of the ERG recordings in advanced cases, mottled pigmentation of the macula" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054806" "00420" "00075031" "01695" "Familial, autosomal recessive" "" "Stargardt disease; presence of fundus flavimaculatus with yellow “flecks” in the macular and paramacular area when patients were seen at a younger age,the presence of the typical dark choroid on fluorescein angiography, abnormal dark-adapted amplitudes of the ERG recordings in advanced cases, mottled pigmentation of the macula" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054807" "00420" "00075032" "01695" "Familial, autosomal recessive" "" "Stargardt disease; presence of fundus flavimaculatus with yellow “flecks” in the macular and paramacular area when patients were seen at a younger age,the presence of the typical dark choroid on fluorescein angiography, abnormal dark-adapted amplitudes of the ERG recordings in advanced cases, mottled pigmentation of the macula" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054808" "00420" "00075033" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054809" "00420" "00075034" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054810" "00420" "00075035" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054811" "00420" "00075036" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054812" "00420" "00075037" "01695" "Familial, autosomal recessive" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054813" "00420" "00075038" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054814" "00420" "00075039" "01695" "Unknown" "" "Stargardt disease;" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054815" "00420" "00075040" "01695" "Unknown" "" "Stargardt disease;" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054816" "00420" "00075041" "01695" "Unknown" "" "Stargardt disease;" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054817" "00420" "00075042" "01695" "Unknown" "" "Stargardt disease;" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054818" "00420" "00075043" "01695" "Unknown" "" "Stargardt disease;" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054819" "00420" "00075044" "01695" "Unknown" "" "Stargardt disease;" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054820" "00420" "00075045" "01695" "Unknown" "" "Stargardt disease;" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054821" "00420" "00075046" "01695" "Unknown" "" "Stargardt disease;" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054822" "00420" "00075047" "01695" "Unknown" "" "Stargardt disease;" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054823" "00420" "00075048" "01695" "Unknown" "" "Stargardt disease;" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054824" "00420" "00075049" "01695" "Unknown" "" "Stargardt disease;" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054825" "00420" "00075050" "01695" "Unknown" "" "Stargardt disease;" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054826" "00420" "00075051" "01695" "Unknown" "" "Stargardt disease;" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054827" "00420" "00075052" "01695" "Unknown" "" "Stargardt disease;" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054828" "00420" "00075053" "01695" "Unknown" "" "Stargardt disease;" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054829" "00420" "00075054" "01695" "Unknown" "" "Stargardt disease;" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054830" "00420" "00075055" "01695" "Unknown" "" "Stargardt disease;" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054831" "00420" "00075056" "01695" "Unknown" "" "Stargardt disease;" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054832" "00198" "00075057" "01695" "Unknown" "" "Fundus flavimaculatus;" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054833" "00198" "00075058" "01695" "Unknown" "" "Fundus flavimaculatus;" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054834" "00198" "00075059" "01695" "Unknown" "" "Fundus flavimaculatus;" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054835" "00198" "00075060" "01695" "Unknown" "" "Fundus flavimaculatus;" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054836" "00198" "00075061" "01695" "Unknown" "" "Fundus flavimaculatus;" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054837" "00420" "00075062" "01695" "Familial, autosomal recessive" "" "Stargardt disease; y28: visual acuity 0.11, numerous yellowish-white fundus lesions throughout the posterior pole, extensive loss of inner-outer segment junction (more than 1 disc diameter from the fovea)." "10y" "" "unknown" "" "" "" "" "" "" "" ""
"0000054838" "00420" "00075063" "01695" "Familial, autosomal recessive" "" "Stargardt disease;" "8y" "" "unknown" "" "" "" "" "" "" "" ""
"0000054839" "00420" "00075064" "01695" "Familial, autosomal recessive" "" "Stargardt disease;" "35y" "" "unknown" "" "" "" "" "" "" "" ""
"0000054840" "00420" "00075065" "01695" "Familial, autosomal recessive" "" "Stargardt disease;" "38y" "" "unknown" "" "" "" "" "" "" "" ""
"0000054841" "00198" "00075066" "01695" "Unknown" "" "Stargardt disease or fundus flavimaculatus; bilateral central vision loss with “beaten-metal” foveal changes and/or yellow-white “fishtail” flecks scattered through the posterior pole and peripheral retina (FFM); typical dark choroid in fluorescein angiography" "3y" "" "unknown" "" "" "" "" "" "" "" ""
"0000054842" "00420" "00075067" "01695" "Familial, autosomal recessive" "" "Stargardt disease;" "18y" "" "unknown" "" "" "" "" "" "" "" ""
"0000054843" "00420" "00075068" "01695" "Familial, autosomal recessive" "" "Stargardt disease;" "20y" "" "unknown" "" "" "" "" "" "" "" ""
"0000054844" "00198" "00075069" "01695" "Unknown" "" "Stargardt disease or fundus flavimaculatus; bilateral central vision loss with “beaten-metal” foveal changes and/or yellow-white “fishtail” flecks scattered through the posterior pole and peripheral retina (FFM); typical dark choroid in fluorescein angiography" "15y" "" "unknown" "" "" "" "" "" "" "" ""
"0000054845" "00198" "00075070" "01695" "Unknown" "" "Stargardt disease or fundus flavimaculatus; bilateral central vision loss with “beaten-metal” foveal changes and/or yellow-white “fishtail” flecks scattered through the posterior pole and peripheral retina (FFM); typical dark choroid in fluorescein angiography; y24: visual acuity 0.065, extensive atrophic-appearing RPE changes, extensive loss of inner-outer segment junction (more than 1 disc diameter from the fovea)." "8y" "" "unknown" "" "" "" "" "" "" "" ""
"0000054846" "00420" "00075071" "01695" "Unknown" "" "Stargardt disease;" "18y" "" "unknown" "" "" "" "" "" "" "" ""
"0000054847" "00198" "00075072" "01695" "Familial, autosomal recessive" "" "Stargardt disease or fundus flavimaculatus; bilateral central vision loss with “beaten-metal” foveal changes and/or yellow-white “fishtail” flecks scattered through the posterior pole and peripheral retina (FFM); typical dark choroid in fluorescein angiography" "8y" "" "unknown" "" "" "" "" "" "" "" ""
"0000054848" "00198" "00075073" "01695" "Familial, autosomal recessive" "" "Stargardt disease or fundus flavimaculatus; bilateral central vision loss with “beaten-metal” foveal changes and/or yellow-white “fishtail” flecks scattered through the posterior pole and peripheral retina (FFM); typical dark choroid in fluorescein angiography" "10y" "" "unknown" "" "" "" "" "" "" "" ""
"0000054849" "00198" "00075074" "01695" "Familial, autosomal recessive" "" "Stargardt disease or fundus flavimaculatus; bilateral central vision loss with “beaten-metal” foveal changes and/or yellow-white “fishtail” flecks scattered through the posterior pole and peripheral retina (FFM); typical dark choroid in fluorescein angiography" "8y" "" "unknown" "" "" "" "" "" "" "" ""
"0000054850" "00198" "00075075" "01695" "Familial, autosomal recessive" "" "Stargardt disease or fundus flavimaculatus; bilateral central vision loss with “beaten-metal” foveal changes and/or yellow-white “fishtail” flecks scattered through the posterior pole and peripheral retina (FFM); typical dark choroid in fluorescein angiography" "10y" "" "unknown" "" "" "" "" "" "" "" ""
"0000054851" "00198" "00075076" "01695" "Unknown" "" "Stargardt disease or fundus flavimaculatus; bilateral central vision loss with “beaten-metal” foveal changes and/or yellow-white “fishtail” flecks scattered through the posterior pole and peripheral retina (FFM); typical dark choroid in fluorescein angiography" "10y" "" "unknown" "" "" "" "" "" "" "" ""
"0000054852" "00058" "00075077" "01695" "Isolated (sporadic)" "" "cone-rod dystrophy (HP:0000510); Maculopathy, characterized by a bull’s eye pattern or granular alterations of the macular RPE. Visual field testing usually shows a central scotoma of 40 deg.. ERG recordings in CRD either show reduction or absence of cone responses in the presence of quantitatively less reduction in rod responses, or an equal impairment of both photoreceptor systems. Peripheral bone spicules and extensive chorioretinal atrophy. Very pale optic disc ." "<41y" "" "loss of central vision" "" "" "" "" "" "" "" ""
"0000054853" "00058" "00075078" "01695" "Isolated (sporadic)" "" "cone-rod dystrophy (HP:0000510); Maculopathy, characterized by a bull’s eye pattern or granular alterations of the macular RPE. Visual field testing usually shows a central scotoma of 25 deg in right eye and 10 deg in left eye. ERG recordings in CRD either show reduction or absence of cone responses in the presence of quantitatively less reduction in rod responses, or an equal impairment of both photoreceptor systems. Diffuse, granular RPE changes in macula, peripheral pigmentations." "<49y" "" "loss of central vision" "" "" "" "" "" "" "" ""
"0000054854" "00058" "00075079" "01695" "Isolated (sporadic)" "" "cone-rod dystrophy (HP:0000510); Maculopathy, characterized by a bull’s eye pattern or granular alterations of the macular RPE. Visual field testing usually shows large paracentral scotomas. ERG recordings in CRD either show reduction or absence of cone responses in the presence of quantitatively less reduction in rod responses, or an equal impairment of both photoreceptor systems. Central hyper- and hypopigmentation of the RPE." "<18y" "" "loss of central vision" "" "" "" "" "" "" "" ""
"0000054855" "00058" "00075080" "01695" "Isolated (sporadic)" "" "cone-rod dystrophy (HP:0000510); Maculopathy, characterized by a bull’s eye pattern or granular alterations of the macular RPE. Visual field testing usually shows central scotoma of 15–20 deg. ERG recordings in CRD either show reduction or absence of cone responses in the presence of quantitatively less reduction in rod responses, or an equal impairment of both photoreceptor systems. Presented with yellow flecks, located at the posterior pole and midperiphery. Central RPE changes." "<18y" "" "loss of central vision" "" "" "" "" "" "" "" ""
"0000054856" "00058" "00075081" "01695" "Isolated (sporadic)" "" "cone-rod dystrophy (HP:0000510); Maculopathy, characterized by a bull’s eye pattern or granular alterations of the macular RPE. Visual field testing usually shows central scotoma of 10–15 deg. ERG recordings in CRD either show reduction or absence of cone responses in the presence of quantitatively less reduction in rod responses, or an equal impairment of both photoreceptor systems. Granular aspect of macular RPE." "<26y" "" "loss of central vision" "" "" "" "" "" "" "" ""
"0000054857" "00058" "00075082" "01695" "Isolated (sporadic)" "" "cone-rod dystrophy (HP:0000510); Maculopathy, characterized by a bull’s eye pattern or granular alterations of the macular RPE. Visual field testing usually shows central scotoma of 10–15 deg. Peripheral constriction (50–60 deg). ERG recordings in CRD either show reduction or absence of cone responses in the presence of quantitatively less reduction in rod responses, or an equal impairment of both photoreceptor systems. Chorioretinal atrophy at the macula with extensive hypo- and hyperpigmentation." "<54y" "" "loss of central vision" "" "" "" "" "" "" "" ""
"0000054858" "00058" "00075083" "01695" "Isolated (sporadic)" "" "cone-rod dystrophy (HP:0000510); Maculopathy, characterized by a bull’s eye pattern or granular alterations of the macular RPE. Visual field testing usually shows central scotoma of 15–20 deg. ERG recordings in CRD either show reduction or absence of cone responses in the presence of quantitatively less reduction in rod responses, or an equal impairment of both photoreceptor systems. Large central chorioretinal atrophy with small island." "<54y" "" "loss of central vision" "" "" "" "" "" "" "" ""
"0000054859" "00058" "00075084" "01695" "Isolated (sporadic)" "" "cone-rod dystrophy (HP:0000510); Maculopathy, characterized by a bull’s eye pattern or granular alterations of the macular RPE. Visual field testing usually shows central scotoma and bad fixation. ERG recordings in CRD either show reduction or absence of cone responses in the presence of quantitatively less reduction in rod responses, or an equal impairment of both photoreceptor systems. Chorioretinal atrophy." "<52y" "" "loss of central vision" "" "" "" "" "" "" "" ""
"0000054860" "00058" "00075085" "01695" "Isolated (sporadic)" "" "cone-rod dystrophy (HP:0000510); Maculopathy, characterized by a bull’s eye pattern or granular alterations of the macular RPE. Visual field testing usually shows central scotoma; Right eye: only island 20–40 deg in superior field. Left eye: central scotoma of 20 deg. ERG recordings in CRD either show reduction or absence of cone responses in the presence of quantitatively less reduction in rod responses, or an equal impairment of both photoreceptor systems. Granular RPE changes at the macula." "<31y" "" "loss of central vision" "" "" "" "" "" "" "" ""
"0000054861" "00058" "00075086" "01695" "Isolated (sporadic)" "" "cone-rod dystrophy (HP:0000510); Maculopathy, characterized by a bull’s eye pattern or granular alterations of the macular RPE. Visual field testing usually shows central scotoma and ringscotoma 20-50 deg. ERG recordings in CRD either show reduction or absence of cone responses in the presence of quantitatively less reduction in rod responses, or an equal impairment of both photoreceptor systems. Central chorioretinal atrophy." "<24y" "" "loss of central vision" "" "" "" "" "" "" "" ""
"0000054862" "00058" "00075087" "01695" "Isolated (sporadic)" "" "cone-rod dystrophy (HP:0000510); Maculopathy, characterized by a bull’s eye pattern or granular alterations of the macular RPE. Visual field testing usually shows central scotoma of 10 deg. ERG recordings in CRD either show reduction or absence of cone responses in the presence of quantitatively less reduction in rod responses, or an equal impairment of both photoreceptor systems. Initially granular RPE atrophy at the macula, later geographical atrophy." "<41y" "" "loss of central vision" "" "" "" "" "" "" "" ""
"0000054863" "00058" "00075088" "01695" "Familial, autosomal recessive" "" "cone-rod dystrophy (HP:0000510); Maculopathy, characterized by a bull’s eye pattern or granular alterations of the macular RPE. Visual field testing usually shows large central scotomas. ERG recordings in CRD either show reduction or absence of cone responses in the presence of quantitatively less reduction in rod responses, or an equal impairment of both photoreceptor systems. Granular RPE changes at the macula. No bone spicules and no attenuated retinal vessels." "<12y" "" "loss of central vision" "" "" "" "" "" "" "" ""
"0000054864" "00058" "00075089" "01695" "Isolated (sporadic)" "" "cone-rod dystrophy (HP:0000510); Maculopathy, characterized by a bull’s eye pattern or granular alterations of the macular RPE. Visual field testing usually shows central scotoma of 20 deg. ERG recordings in CRD either show reduction or absence of cone responses in the presence of quantitatively less reduction in rod responses, or an equal impairment of both photoreceptor systems. Mild granular changes at the macula." "<20y" "" "loss of central vision" "" "" "" "" "" "" "" ""
"0000054865" "00058" "00075090" "01695" "Isolated (sporadic)" "" "cone-rod dystrophy (HP:0000510); Maculopathy, characterized by a bull’s eye pattern or granular alterations of the macular RPE. Visual field testing usually shows central scotoma of 10–20 deg. ERG recordings in CRD either show reduction or absence of cone responses in the presence of quantitatively less reduction in rod responses, or an equal impairment of both photoreceptor systems. Granular changes at the macula." "<18y" "" "loss of central vision" "" "" "" "" "" "" "" ""
"0000054866" "00058" "00075091" "01695" "Isolated (sporadic)" "" "cone-rod dystrophy (HP:0000510); Maculopathy, characterized by a bull’s eye pattern or granular alterations of the macular RPE. Visual field testing usually shows (para)central scotomas. ERG recordings in CRD either show reduction or absence of cone responses in the presence of quantitatively less reduction in rod responses, or an equal impairment of both photoreceptor systems. Mild flecks at posterior pole." "<25y" "" "loss of central vision" "" "" "" "" "" "" "" ""
"0000054867" "00058" "00075092" "01695" "Isolated (sporadic)" "" "cone-rod dystrophy (HP:0000510); Maculopathy, characterized by a bull’s eye pattern or granular alterations of the macular RPE. Visual field testing usually shows central scotoma of 30–40 deg. ERG recordings in CRD either show reduction or absence of cone responses in the presence of quantitatively less reduction in rod responses, or an equal impairment of both photoreceptor systems. Granular RPE changes at the macula." "<63y" "" "loss of central vision" "" "" "" "" "" "" "" ""
"0000054868" "00058" "00075093" "01695" "Isolated (sporadic)" "" "cone-rod dystrophy (HP:0000510); Maculopathy, characterized by a bull’s eye pattern or granular alterations of the macular RPE. Visual field testing usually shows central scotoma. ERG recordings in CRD either show reduction or absence of cone responses in the presence of quantitatively less reduction in rod responses, or an equal impairment of both photoreceptor systems. Central chorioretinal atrophy. Granular changes at midperiphery." "<18y" "" "loss of central vision" "" "" "" "" "" "" "" ""
"0000054869" "00058" "00075094" "01695" "Familial, autosomal recessive" "" "cone-rod dystrophy (HP:0000510); Maculopathy, characterized by a bull’s eye pattern or granular alterations of the macular RPE. Visual field testing usually shows (para)central scotomas. ERG recordings in CRD either show reduction or absence of cone responses in the presence of quantitatively less reduction in rod responses, or an equal impairment of both photoreceptor systems. Dark pigmentations at the macula, surrounded by hypopigmented halo." "<15y" "" "loss of central vision" "" "" "" "" "" "" "" ""
"0000054870" "04214" "00075095" "01695" "Familial, autosomal recessive" "" "retinitis pigmentosa; Visual field defects typically originate in the midperiphery, with gradual enlargement to both the periphery and the center of the retina. Typically, the ERG recordings demonstrate photoreceptor degeneration in a rod–cone pattern. Severe chorioretinal atrophy. Ringscotomas in the past." "<88y" "" "Night blindness" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000054871" "04214" "00075096" "01695" "Familial, autosomal recessive" "" "retinitis pigmentosa; Visual field defects typically originate in the midperiphery, with gradual enlargement to both the periphery and the center of the retina. Typically, the ERG recordings demonstrate photoreceptor degeneration in a rod–cone pattern. Bone spicules and attenuated vessels. Minor excavation of disc. Ringscotomas." "<62y" "" "Night blindness" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000054872" "04214" "00075097" "01695" "Isolated (sporadic)" "" "retinitis pigmentosa; Visual field defects typically originate in the midperiphery, with gradual enlargement to both the periphery and the center of the retina. Typically, the ERG recordings demonstrate photoreceptor degeneration in a rod–cone pattern. Bone spicules and attenuated vessels. Glaucomatous aspect of left optic disc. Initially ringscotomas, later progressive constriction of visual field. Also, Bjerrum scotomas, more pronounced in the left eye than in the right eye." "<61y" "" "Night blindness" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000054873" "04214" "00075098" "01695" "Isolated (sporadic)" "" "retinitis pigmentosa; Visual field defects typically originate in the midperiphery, with gradual enlargement to both the periphery and the center of the retina. Typically, the ERG recordings demonstrate photoreceptor degeneration in a rod–cone pattern. Gliosis at the macula, attenuated retinal vessels. Central island of 10–15 deg Ringscotoma of 50 deg." "<26y" "" "Night blindness" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000054874" "04214" "00075099" "01695" "Isolated (sporadic)" "" "retinitis pigmentosa; Visual field defects typically originate in the midperiphery, with gradual enlargement to both the periphery and the center of the retina. Typically, the ERG recordings demonstrate photoreceptor degeneration in a rod–cone pattern. Peripheral bone spicule pigmentations, mild attenuation of vessels, midperipheral atrophy. Partial ringscotoma." "<49y" "" "Night blindness" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000054875" "00420" "00075100" "01695" "Familial, autosomal recessive" "" "Stargardt disease; Central scotomas, bilateral, central macular atrophy that was more severe in the right eye, a zone of atrophy superonasal to the left optic disk, dense deposits of pigment at the level of the retinal pigment epithelium were present, left greater than right, and numerous yellow flecks were observed in the midperiphery." "15y" "" "progressive decline in visual acuity" "" "" "" "" "" "" "" ""
"0000054876" "00420" "00075101" "01695" "Familial, autosomal recessive" "" "Stargardt disease; Bilateral, and roughly symmetrical, central regions of chorioretinal atrophy measuring 3 disk diameters, accompanied by prominent pigment deposits at the level of the retinal pigment epithelium. There were numerous yellow flecks in the posterior poles of both eyes, separated from the macular lesions by a zone of relatively normal appearing tissue." "16y" "" "progressive decline in visual acuity" "" "" "" "" "" "" "" ""
"0000054877" "00420" "00075102" "01695" "Familial, autosomal recessive" "" "Stargardt disease; Bilateral regions of macular atrophy, which were roughly symmetrical in size and severity and associated with pigment deposits that were more prominent in the right eye. Numerous yellow flecks were noted in the posterior pole and midperiphery of both eyes." "12y" "" "gradual decline in visual acuity" "" "" "" "" "" "" "" ""
"0000054878" "00420" "00075103" "01695" "Familial, autosomal recessive" "" "Stargardt disease; Beaten-bronze–appearing macula bilaterally, with numerous perimacular yellow flecks." "24y" "" "gradual decline in visual acuity" "" "" "" "" "" "" "" ""
"0000054879" "00058" "00075104" "01695" "Unknown" "" "cone-rod dystrophy (HP:0000510)" "9y" "" "unknown" "" "" "" "" "" "" "" ""
"0000054880" "00058" "00075105" "01695" "Unknown" "" "cone-rod dystrophy (HP:0000510)" "7y" "" "unknown" "" "" "" "" "" "" "" ""
"0000054881" "00058" "00075106" "01695" "Unknown" "" "cone-rod dystrophy (HP:0000510)" "4y" "" "unknown" "" "" "" "" "" "" "" ""
"0000054882" "00420" "00075107" "01695" "Unknown" "" "Stargardt disease" "7y" "" "unknown" "" "" "" "" "" "" "" ""
"0000054883" "00420" "00075108" "01695" "Unknown" "" "Stargardt disease" "8y" "" "unknown" "" "" "" "" "" "" "" ""
"0000054884" "00420" "00075109" "01695" "Unknown" "" "Stargardt disease" "9y" "" "unknown" "" "" "" "" "" "" "" ""
"0000054885" "00420" "00075110" "01695" "Unknown" "" "Stargardt disease" "11y" "" "unknown" "" "" "" "" "" "" "" ""
"0000054886" "00420" "00075111" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "14y" "" "unknown" "" "" "" "" "" "" "" ""
"0000054887" "00420" "00075112" "01695" "Unknown" "" "Stargardt disease" "18y" "" "unknown" "" "" "" "" "" "" "" ""
"0000054888" "00420" "00075113" "01695" "Unknown" "" "Stargardt disease" "11y" "" "unknown" "" "" "" "" "" "" "" ""
"0000054889" "00198" "00075114" "01695" "Unknown" "" "Fundus flavimaculatus" "38y" "" "unknown" "" "" "" "" "" "" "" ""
"0000054890" "00198" "00075115" "01695" "Unknown" "" "Fundus flavimaculatus" "28y" "" "unknown" "" "" "" "" "" "" "" ""
"0000054891" "00198" "00075116" "01695" "Unknown" "" "Stargardt disease or fundus flavimaculatus; Localized perifoveal yellowish white flecks, central scotoma" "<20y" "" "unknown" "" "" "" "" "" "" "" ""
"0000054892" "00198" "00075117" "01695" "Unknown" "" "Stargardt disease or fundus flavimaculatus; Localized perifoveal yellowish white flecks, central scotoma" "<45y" "" "unknown" "" "" "" "" "" "" "" ""
"0000054893" "00198" "00075118" "01695" "Unknown" "" "Stargardt disease or fundus flavimaculatus; Localized perifoveal yellowish white flecks, central scotoma" "<36y" "" "unknown" "" "" "" "" "" "" "" ""
"0000054894" "00198" "00075119" "01695" "Unknown" "" "Stargardt disease or fundus flavimaculatus; Localized perifoveal yellowish white flecks, central scotoma; At age 57: localized atrophic-appearing foveal lesion (flecks), visual acuity: OD 20/200, OS 20/200." "23y" "" "localized atrophic-appearing foveal lesion (flecks), visual acuity: OD 20/300, OS 20/50" "" "" "" "" "" "" "" ""
"0000054895" "00198" "00075120" "01695" "Unknown" "" "Stargardt disease or fundus flavimaculatus; Localized perifoveal yellowish white flecks, central scotoma; At age 39: localized atrophic-appearing foveal lesion (flecks), visual acuity: OD 20/100-1, OS 20/100-1." "24y" "" "localized atrophic-appearing foveal lesion (flecks), visual acuity: OD 20/200, OS 20/80-3" "" "" "" "" "" "" "" ""
"0000054896" "00420" "00075121" "01695" "Unknown" "" "Stargardt disease; Localized perifoveal yellowish white flecks, central scotoma; At age 49: localized atrophic-appearing foveal lesion (flecks), visual acuity: OD 20/400, OS 20/400" "36y" "" "localized atrophic-appearing foveal lesion (flecks), visual acuity: OD 20/25-2, OS 20/200" "" "" "" "" "" "" "" ""
"0000054897" "00198" "00075122" "01695" "Unknown" "" "Stargardt disease or fundus flavimaculatus; Localized perifoveal yellowish white flecks, central scotoma; 57y retinal flecks appear throughou posterior pole, anterior to vascular arcades and/or nasal to optic disc, visual acuity: OD 20/400, OS 20/200" "25y" "" "retinal flecks posterior pole, anterior to vascular arcades and/or nasal to optic disc, visual acuity: OD 20/300, OS 20/300" "" "" "" "" "" "" "" ""
"0000054898" "00198" "00075123" "01695" "Unknown" "" "Stargardt disease or fundus flavimaculatus; Localized perifoveal yellowish white flecks, central scotoma; 24y retinal flecks throughout posterior pole, anterior to vascular arcades and/or nasal to optic disc, visual acuity: OD 20/200, OS 20/200" "13y" "" "localized atrophic-appearing foveal lesion (flecks), visual acuity: OD 20/200, OS 20/200" "" "" "" "" "" "" "" ""
"0000054899" "00198" "00075124" "01695" "Unknown" "" "Stargardt disease or fundus flavimaculatus; Localized perifoveal yellowish white flecks, central scotoma; 41y localized atrophic-appearing foveal lesion (flecks), visual acuity: OD 20/70-2, OS 20/200-1." "30y" "" "localized atrophic-appearing foveal lesion (flecks), visual acuity: OD 20/25-1, OS 20/30-2" "" "" "" "" "" "" "" ""
"0000054900" "00198" "00075125" "01695" "Unknown" "" "Stargardt disease or fundus flavimaculatus; Localized perifoveal yellowish white flecks, central scotoma; At age 55: localized atrophic-appearing foveal lesion (flecks), visual acuity: OD 20/200, OS 20/200." "32y" "" "localized atrophic-appearing foveal lesion (flecks), visual acuity: OD 20/200-1, OS 20/60-2" "" "" "" "" "" "" "" ""
"0000054901" "00420" "00075126" "01695" "Unknown" "" "Stargardt disease; Localized perifoveal yellowish white flecks, central scotoma; At age 42: localized atrophic-appearing foveal lesion (flecks), visual acuity: OD 20/400, OS 20/400." "27y" "" "localized atrophic-appearing foveal lesion (flecks), visual acuity: OD 20/400, OS 20/30-2" "" "" "" "" "" "" "" ""
"0000054902" "00198" "00075127" "01695" "Unknown" "" "Stargardt disease or fundus flavimaculatus; Localized perifoveal yellowish white flecks, central scotoma" "19y" "" "unknown" "" "" "" "" "" "" "" ""
"0000054903" "00198" "00075128" "01695" "Unknown" "" "Stargardt disease or fundus flavimaculatus; Dark choroid, diffused yellowish white flecks in the fundus, central scotoma" "<23y" "" "unknown" "" "" "" "" "" "" "" ""
"0000054904" "00198" "00075129" "01695" "Unknown" "" "Stargardt disease or fundus flavimaculatus; Dark choroid, diffused yellowish white flecks in the fundus, central scotoma" "<10y" "" "unknown" "" "" "" "" "" "" "" ""
"0000054905" "00198" "00075130" "01695" "Unknown" "" "Stargardt disease or fundus flavimaculatus; Dark choroid, diffused yellowish white flecks in the fundus, central scotoma; localized fundus flecks in the parafoveal region" "<20y" "" "unknown" "" "" "" "" "" "" "" ""
"0000054906" "00198" "00075131" "01695" "Unknown" "" "Stargardt disease or fundus flavimaculatus; Dark choroid, diffused yellowish white flecks in the fundus" "<26y" "" "unknown" "" "" "" "" "" "" "" ""
"0000054907" "00198" "00075132" "01695" "Unknown" "" "Stargardt disease or fundus flavimaculatus; Dark choroid, diffused yellowish white flecks in the fundus, central scotoma" "<13y" "" "unknown" "" "" "" "" "" "" "" ""
"0000054908" "00198" "00075133" "01695" "Unknown" "" "Stargardt disease or fundus flavimaculatus; Dark choroid, diffused yellowish white flecks in the fundus, paracentral scotoma" "<74y" "" "unknown" "" "" "" "" "" "" "" ""
"0000054909" "00198" "00075134" "01695" "Unknown" "" "Stargardt disease or fundus flavimaculatus; Dark choroid, diffused yellowish white flecks in the fundus, central scotoma" "<36y" "" "unknown" "" "" "" "" "" "" "" ""
"0000054910" "00198" "00075135" "01695" "Unknown" "" "Stargardt disease or fundus flavimaculatus; Dark choroid, diffused yellowish white flecks in the fundus, mild peripheral restriction, central scotoma; localized fundus flecks in the parafoveal region" "<49y" "" "unknown" "" "" "" "" "" "" "" ""
"0000054911" "00198" "00075136" "01695" "Unknown" "" "Stargardt disease or fundus flavimaculatus; Dark choroid, diffused yellowish white flecks in the fundus, central scotoma" "<55y" "" "unknown" "" "" "" "" "" "" "" ""
"0000054912" "00198" "00075137" "01695" "Unknown" "" "Stargardt disease or fundus flavimaculatus; Dark choroid, diffused yellowish white flecks in the fundus, central scotoma" "<29y" "" "unknown" "" "" "" "" "" "" "" ""
"0000054913" "00198" "00075138" "01695" "Unknown" "" "Stargardt disease or fundus flavimaculatus; Atrophic appearing changes of the retinal pigment epithelium" "<35y" "" "unknown" "" "" "" "" "" "" "" ""
"0000054914" "00198" "00075139" "01695" "Unknown" "" "Stargardt disease or fundus flavimaculatus; Atrophic appearing changes of the retinal pigment epithelium, central scotoma" "<54y" "" "unknown" "" "" "" "" "" "" "" ""
"0000054915" "00198" "00075140" "01695" "Unknown" "" "Stargardt disease or fundus flavimaculatus; Atrophic appearing changes of the retinal pigment epithelium, mild concentric restriction, central scotoma" "<55y" "" "unknown" "" "" "" "" "" "" "" ""
"0000054916" "00198" "00075141" "01695" "Unknown" "" "Stargardt disease or fundus flavimaculatus; Atrophic appearing changes of the retinal pigment epithelium" "<58y" "" "unknown" "" "" "" "" "" "" "" ""
"0000054917" "00420" "00075142" "01695" "Unknown" "" "Stargardt disease; Atrophic appearing changes of the retinal pigment epithelium, temporal islands; At age 74: extensive atrophy of the RPE and choroid, visual acuity: OD light perception, OS light perception" "43y" "" "extensive atrophy of the RPE and choroid, visual acuity: OD 8/200, OS 5/400" "" "" "" "" "" "" "" ""
"0000054918" "00198" "00075143" "01695" "Unknown" "" "Stargardt disease or fundus flavimaculatus; Atrophic appearing changes of the retinal pigment epithelium, peripheral restriction, central scotoma" "<33y" "" "unknown" "" "" "" "" "" "" "" ""
"0000054919" "00198" "00075144" "01695" "Unknown" "" "Stargardt disease or fundus flavimaculatus; Atrophic appearing changes of the retinal pigment epithelium, peripheral restriction, central scotoma" "<47y" "" "unknown" "" "" "" "" "" "" "" ""
"0000054920" "00420" "00075145" "01695" "Unknown" "" "Stargardt disease; rapid disease progression with central atrophy of the macula and numerous flecks in the midperiphery" "24y" "" "0" "" "" "" "" "" "" "" ""
"0000054921" "00420" "00075146" "01695" "Unknown" "" "Stargardt disease; an ophtalmoscopically characteristic retinal disorder, bilateral central visual loss with both \"beaten metal\" elliptical foveal dystrophy and temporal pallor of the optic discs, documented by retinal color photography, characteristic fluorescein angiographic feature of a dark choroid" "15y" "" "unknown" "" "" "" "" "" "" "" ""
"0000054922" "00420" "00075147" "01695" "Unknown" "" "Stargardt disease; an ophtalmoscopically characteristic retinal disorder, bilateral central visual loss with both \"beaten metal\" elliptical foveal dystrophy and temporal pallor of the optic discs, documented by retinal color photography, characteristic fluorescein angiographic feature of a dark choroid" "13y" "" "unknown" "" "" "" "" "" "" "" ""
"0000054923" "00420" "00075148" "01695" "Unknown" "" "Stargardt disease; an ophtalmoscopically characteristic retinal disorder, bilateral central visual loss with both \"beaten metal\" elliptical foveal dystrophy and temporal pallor of the optic discs, documented by retinal color photography, characteristic fluorescein angiographic feature of a dark choroid" "22y" "" "unknown" "" "" "" "" "" "" "" ""
"0000054924" "00420" "00075149" "01695" "Unknown" "" "Stargardt disease; central visual impairment, a characteristic retinal appearance, and a dark choroid on the fluorescein angiography" "22y" "" "unknown" "" "" "" "" "" "" "" ""
"0000054925" "00420" "00075150" "01695" "Unknown" "" "Stargardt disease; an ophtalmoscopically characteristic retinal disorder, bilateral central visual loss with both \"beaten metal\" elliptical foveal dystrophy and temporal pallor of the optic discs, documented by retinal color photography, characteristic fluorescein angiographic feature of a dark choroid" "6y" "" "unknown" "" "" "" "" "" "" "" ""
"0000054926" "00420" "00075151" "01695" "Familial, autosomal recessive" "" "Stargardt disease; slowly progressive loss of visual acuity over a period of several years, macular dystrophy surrounded by yellowish flecks, central scotoma" "14y" "" "unknown" "" "" "" "" "" "" "" ""
"0000054927" "04214" "00075152" "01695" "Familial, autosomal recessive" "" "retinitis pigmentosa; progressive nightblindness, concentric reduction of the visual field, almost blind at 34y, fundus displays aspects of RP with pigmentary deposits all over the retina with choriocapillaris atrophy, severe concentric reduction of the visual field, unrecordable ERG" "<10y" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000054928" "00058" "00075153" "01695" "Isolated (sporadic)" "" "cone-rod dystrophy (HP:0000510); the b-wave of the photopic ERG (cone response) was more severely reduced than the b-wave of the scotopic ERG, decreased visual acuity, impaired color vision, central or paracentral scotomas, and fundoscopic evidence of maculopathy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054929" "00058" "00075154" "01695" "Isolated (sporadic)" "" "cone-rod dystrophy (HP:0000510); the b-wave of the photopic ERG (cone response) was more severely reduced than the b-wave of the scotopic ERG, decreased visual acuity, impaired color vision, central or paracentral scotomas, and fundoscopic evidence of maculopathy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054930" "00420" "00075155" "01695" "Unknown" "" "Stargardt disease; bilateral impairment of central vision, appearance of perimacular and/or peripheral yellow-white flecks," "<9y" "" "unknown" "" "" "" "" "" "" "" ""
"0000054931" "00420" "00075156" "01695" "Unknown" "" "Stargardt disease; bilateral impairment of central vision, appearance of perimacular and/or peripheral yellow-white flecks," "<9y" "" "unknown" "" "" "" "" "" "" "" ""
"0000054932" "00420" "00075157" "01695" "Unknown" "" "Stargardt disease; bilateral impairment of central vision, appearance of perimacular and/or peripheral yellow-white flecks," "<9y" "" "unknown" "" "" "" "" "" "" "" ""
"0000054933" "00420" "00075158" "01695" "Unknown" "" "Stargardt disease; bilateral impairment of central vision, appearance of perimacular and/or peripheral yellow-white flecks," "<9y" "" "unknown" "" "" "" "" "" "" "" ""
"0000054934" "00420" "00075159" "01695" "Unknown" "" "Stargardt disease; bilateral impairment of central vision, appearance of perimacular and/or peripheral yellow-white flecks," "<9y" "" "unknown" "" "" "" "" "" "" "" ""
"0000054935" "00420" "00075160" "01695" "Unknown" "" "Stargardt disease; bilateral impairment of central vision, appearance of perimacular and peripheral yellow-white flecks, moderate fundus changes; OD 20/250, OS 20/250, affected color vision, numerous yellowish-white fundus lesions throughout posterior pole," "9y" "" "decreased visual acuity" "" "" "" "" "" "" "" ""
"0000054936" "00420" "00075161" "01695" "Unknown" "" "Stargardt disease; bilateral impairment of central vision, appearance of perimacular and/or peripheral yellow-white flecks," "<9y" "" "unknown" "" "" "" "" "" "" "" ""
"0000054937" "00420" "00075162" "01695" "Unknown" "" "Stargardt disease; bilateral impairment of central vision, appearance of perimacular and/or peripheral yellow-white flecks, mild fundus changes, abnormal electroradiography values suggestive of both rod and cone involvement, OD 20/250, OS 20/250, small atrophic-appearing foveal lesion, localized perifoveal yellowish-white flecks" "5y" "" "decreased visual acuity" "" "" "" "" "" "" "" ""
"0000054938" "00420" "00075163" "01695" "Unknown" "" "Stargardt disease; bilateral impairment of central vision, appearance of perimacular and/or peripheral yellow-white flecks; OD 20/30, OS 20/30, small atrophic-appearing foveal lesion, localized perifoveal yellowish-white flecks" ">29y" "" "decreased visual acuity" "" "" "" "" "" "" "" ""
"0000054939" "00420" "00075164" "01695" "Unknown" "" "Stargardt disease; bilateral impairment of central vision, appearance of perimacular and/or peripheral yellow-white flecks; OD 20/100, OS 20/200, affected color vision, numerous yellowish-white fundus lesions throughout posterior pole," "<9y" "" "unknown" "" "" "" "" "" "" "" ""
"0000054940" "00420" "00075165" "01695" "Unknown" "" "Stargardt disease; bilateral impairment of central vision, appearance of perimacular and/or peripheral yellow-white flecks," "<14y" "" "unknown" "" "" "" "" "" "" "" ""
"0000054941" "00420" "00075166" "01695" "Unknown" "" "Stargardt disease; bilateral impairment of central vision, appearance of perimacular and/or peripheral yellow-white flecks," "<14y" "" "unknown" "" "" "" "" "" "" "" ""
"0000054942" "00420" "00075167" "01695" "Unknown" "" "Stargardt disease; bilateral impairment of central vision, appearance of perimacular and/or peripheral yellow-white flecks; OD 20/250, OS 20/250, affected color vision, numerous yellowish-white fundus lesions throughout posterior pole," "<14y" "" "decreased visual acuity" "" "" "" "" "" "" "" ""
"0000054943" "00420" "00075168" "01695" "Unknown" "" "Stargardt disease; bilateral impairment of central vision, appearance of perimacular and/or peripheral yellow-white flecks; OD 20/200, OS 20/200, affected color vision, numerous yellowish-white fundus lesions throughout posterior pole," "<14y" "" "decreased visual acuity" "" "" "" "" "" "" "" ""
"0000054944" "00420" "00075169" "01695" "Unknown" "" "Stargardt disease; bilateral impairment of central vision, appearance of perimacular and/or peripheral yellow-white flecks," "<14y" "" "unknown" "" "" "" "" "" "" "" ""
"0000054945" "00420" "00075170" "01695" "Unknown" "" "Stargardt disease; bilateral impairment of central vision, appearance of perimacular and/or peripheral yellow-white flecks," "<14y" "" "unknown" "" "" "" "" "" "" "" ""
"0000054946" "00420" "00075171" "01695" "Unknown" "" "Stargardt disease; bilateral impairment of central vision, appearance of perimacular and/or peripheral yellow-white flecks," "<14y" "" "unknown" "" "" "" "" "" "" "" ""
"0000054947" "00420" "00075172" "01695" "Unknown" "" "Stargardt disease; bilateral impairment of central vision, appearance of perimacular and/or peripheral yellow-white flecks," "<14y" "" "unknown" "" "" "" "" "" "" "" ""
"0000054948" "00420" "00075173" "01695" "Unknown" "" "Stargardt disease; bilateral impairment of central vision, appearance of perimacular and/or peripheral yellow-white flecks," "<14y" "" "unknown" "" "" "" "" "" "" "" ""
"0000054949" "00420" "00075174" "01695" "Unknown" "" "Stargardt disease; bilateral impairment of central vision, appearance of perimacular and/or peripheral yellow-white flecks; OD 20/100, OS 20/100, affected color vision, numerous yellowish-white fundus lesions throughout posterior pole," "<14y" "" "decreased visual acuity" "" "" "" "" "" "" "" ""
"0000054950" "00420" "00075175" "01695" "Unknown" "" "Stargardt disease; bilateral impairment of central vision, appearance of perimacular and/or peripheral yellow-white flecks," "<14y" "" "unknown" "" "" "" "" "" "" "" ""
"0000054951" "00420" "00075176" "01695" "Unknown" "" "Stargardt disease; bilateral impairment of central vision, appearance of perimacular and peripheral flecks and pigment clumping nasal to the optic disk, moderate fundus changes, both eyes exhibited extensive central retinal pigment epithelium atrophy" "10y" "" "unknown" "" "" "" "" "" "" "" ""
"0000054952" "00420" "00075177" "01695" "Unknown" "" "Stargardt disease; bilateral impairment of central vision, appearance of perimacular and/or peripheral yellow-white flecks," "<14y" "" "unknown" "" "" "" "" "" "" "" ""
"0000054953" "00420" "00075178" "01695" "Unknown" "" "Stargardt disease; bilateral impairment of central vision, appearance of perimacular and/or peripheral yellow-white flecks," "<14y" "" "unknown" "" "" "" "" "" "" "" ""
"0000054954" "00420" "00075179" "01695" "Unknown" "" "Stargardt disease; bilateral impairment of central vision, appearance of perimacular and/or peripheral yellow-white flecks," "<14y" "" "unknown" "" "" "" "" "" "" "" ""
"0000054955" "00420" "00075180" "01695" "Unknown" "" "Stargardt disease; bilateral impairment of central vision, appearance of perimacular and/or peripheral yellow-white flecks," "<19y" "" "unknown" "" "" "" "" "" "" "" ""
"0000054956" "00420" "00075181" "01695" "Unknown" "" "Stargardt disease; bilateral impairment of central vision, appearance of perimacular and/or peripheral yellow-white flecks," "<19y" "" "unknown" "" "" "" "" "" "" "" ""
"0000054957" "00420" "00075182" "01695" "Unknown" "" "Stargardt disease; bilateral impairment of central vision, appearance of perimacular and/or peripheral yellow-white flecks," "<19y" "" "unknown" "" "" "" "" "" "" "" ""
"0000054958" "00420" "00075183" "01695" "Unknown" "" "Stargardt disease; bilateral impairment of central vision, appearance of perimacular and/or peripheral yellow-white flecks," "<19y" "" "unknown" "" "" "" "" "" "" "" ""
"0000054959" "00420" "00075184" "01695" "Unknown" "" "Stargardt disease; bilateral impairment of central vision, appearance of perimacular and/or peripheral yellow-white flecks," "<19y" "" "unknown" "" "" "" "" "" "" "" ""
"0000054960" "00420" "00075185" "01695" "Unknown" "" "Stargardt disease; bilateral impairment of central vision, appearance of perimacular and/or peripheral yellow-white flecks," "<19y" "" "unknown" "" "" "" "" "" "" "" ""
"0000054961" "00420" "00075186" "01695" "Unknown" "" "Stargardt disease; bilateral impairment of central vision, appearance of perimacular and/or peripheral yellow-white flecks," "<19y" "" "unknown" "" "" "" "" "" "" "" ""
"0000054962" "00420" "00075187" "01695" "Unknown" "" "Stargardt disease; bilateral impairment of central vision, appearance of perimacular and/or peripheral yellow-white flecks," "<19y" "" "unknown" "" "" "" "" "" "" "" ""
"0000054963" "00420" "00075188" "01695" "Unknown" "" "Stargardt disease; bilateral impairment of central vision, appearance of perimacular and/or peripheral yellow-white flecks," "<19y" "" "unknown" "" "" "" "" "" "" "" ""
"0000054964" "00420" "00075189" "01695" "Unknown" "" "Stargardt disease; bilateral impairment of central vision, appearance of perimacular and/or peripheral yellow-white flecks; OD 20/200, OS 20/200, affected color vision, numerous yellowish-white fundus lesions throughout posterior pole," "<19y" "" "decreased visual acuity" "" "" "" "" "" "" "" ""
"0000054965" "00420" "00075190" "01695" "Unknown" "" "Stargardt disease; bilateral impairment of central vision, appearance of perimacular and/or peripheral yellow-white flecks," "<19y" "" "unknown" "" "" "" "" "" "" "" ""
"0000054966" "00420" "00075191" "01695" "Unknown" "" "Stargardt disease; bilateral impairment of central vision, appearance of perimacular and/or peripheral yellow-white flecks," "<24y" "" "unknown" "" "" "" "" "" "" "" ""
"0000054967" "00420" "00075192" "01695" "Unknown" "" "Stargardt disease; bilateral impairment of central vision, appearance of perimacular and/or peripheral yellow-white flecks," "<24y" "" "unknown" "" "" "" "" "" "" "" ""
"0000054968" "00420" "00075193" "01695" "Unknown" "" "Stargardt disease; bilateral impairment of central vision, appearance of perimacular and/or peripheral yellow-white flecks," "<24y" "" "unknown" "" "" "" "" "" "" "" ""
"0000054969" "00420" "00075194" "01695" "Unknown" "" "Stargardt disease; bilateral impairment of central vision, appearance of perimacular and/or peripheral yellow-white flecks," "<24y" "" "unknown" "" "" "" "" "" "" "" ""
"0000054970" "00420" "00075195" "01695" "Unknown" "" "Stargardt disease; bilateral impairment of central vision, appearance of perimacular and/or peripheral yellow-white flecks; OD <20/400, OS <20/400, affected color vision, extensive atrophic-appearing RPE changes," "<24y" "" "decreased visual acuity" "" "" "" "" "" "" "" ""
"0000054971" "00420" "00075196" "01695" "Unknown" "" "Stargardt disease; bilateral impairment of central vision, appearance of perimacular and/or peripheral yellow-white flecks," "<24y" "" "unknown" "" "" "" "" "" "" "" ""
"0000054972" "00420" "00075197" "01695" "Unknown" "" "Stargardt disease; bilateral impairment of central vision, appearance of perimacular and/or peripheral yellow-white flecks," "<24y" "" "unknown" "" "" "" "" "" "" "" ""
"0000054973" "00420" "00075198" "01695" "Unknown" "" "Stargardt disease; bilateral impairment of central vision, appearance of perimacular and/or peripheral yellow-white flecks," "<24y" "" "unknown" "" "" "" "" "" "" "" ""
"0000054974" "00420" "00075199" "01695" "Unknown" "" "Stargardt disease; bilateral impairment of central vision, appearance of perimacular and/or peripheral yellow-white flecks," "<24y" "" "unknown" "" "" "" "" "" "" "" ""
"0000054975" "00420" "00075200" "01695" "Unknown" "" "Stargardt disease; bilateral impairment of central vision, appearance of perimacular and/or peripheral yellow-white flecks," "<24y" "" "unknown" "" "" "" "" "" "" "" ""
"0000054976" "00420" "00075201" "01695" "Unknown" "" "Stargardt disease; bilateral impairment of central vision, appearance of perimacular and/or peripheral yellow-white flecks," "<24y" "" "unknown" "" "" "" "" "" "" "" ""
"0000054977" "00420" "00075202" "01695" "Unknown" "" "Stargardt disease; bilateral impairment of central vision, appearance of perimacular and/or peripheral yellow-white flecks," "<29y" "" "unknown" "" "" "" "" "" "" "" ""
"0000054978" "00420" "00075203" "01695" "Unknown" "" "Stargardt disease; bilateral impairment of central vision, appearance of perimacular and/or peripheral yellow-white flecks," "<29y" "" "unknown" "" "" "" "" "" "" "" ""
"0000054979" "00420" "00075204" "01695" "Unknown" "" "Stargardt disease; bilateral impairment of central vision, appearance of perimacular and/or peripheral yellow-white flecks," "<29y" "" "unknown" "" "" "" "" "" "" "" ""
"0000054980" "00420" "00075205" "01695" "Unknown" "" "Stargardt disease; bilateral impairment of central vision, appearance of perimacular and/or peripheral yellow-white flecks," "<29y" "" "unknown" "" "" "" "" "" "" "" ""
"0000054981" "00420" "00075206" "01695" "Unknown" "" "Stargardt disease; bilateral impairment of central vision, appearance of perimacular and/or peripheral yellow-white flecks," "<29y" "" "unknown" "" "" "" "" "" "" "" ""
"0000054982" "00420" "00075207" "01695" "Unknown" "" "Stargardt disease; bilateral impairment of central vision, appearance of perimacular and/or peripheral yellow-white flecks," ">29y" "" "unknown" "" "" "" "" "" "" "" ""
"0000054983" "00420" "00075208" "01695" "Unknown" "" "Stargardt disease; bilateral impairment of central vision, appearance of perimacular and/or peripheral yellow-white flecks," ">29y" "" "unknown" "" "" "" "" "" "" "" ""
"0000054984" "00420" "00075209" "01695" "Unknown" "" "Stargardt disease; bilateral impairment of central vision, appearance of perimacular and/or peripheral yellow-white flecks," ">29y" "" "unknown" "" "" "" "" "" "" "" ""
"0000054985" "00420" "00075210" "01695" "Unknown" "" "Stargardt disease; bilateral impairment of central vision, appearance of perimacular and/or peripheral yellow-white flecks," ">29y" "" "unknown" "" "" "" "" "" "" "" ""
"0000054986" "00420" "00075211" "01695" "Unknown" "" "Stargardt disease; bilateral impairment of central vision, appearance of perimacular and/or peripheral yellow-white flecks," ">29y" "" "unknown" "" "" "" "" "" "" "" ""
"0000054987" "00420" "00075212" "01695" "Unknown" "" "Stargardt disease; bilateral impairment of central vision, appearance of perimacular and/or peripheral yellow-white flecks," ">29y" "" "unknown" "" "" "" "" "" "" "" ""
"0000054988" "00420" "00075213" "01695" "Unknown" "" "Stargardt disease; bilateral impairment of central vision, appearance of perimacular and/or peripheral yellow-white flecks," ">29y" "" "decreased visual acuity" "" "" "" "" "" "" "" ""
"0000054989" "00420" "00075214" "01695" "Unknown" "" "Stargardt disease; bilateral impairment of central vision, appearance of perimacular and/or peripheral yellow-white flecks," ">29y" "" "unknown" "" "" "" "" "" "" "" ""
"0000054990" "00420" "00075215" "01695" "Unknown" "" "Stargardt disease; bilateral impairment of central vision, appearance of perimacular and/or peripheral yellow-white flecks," "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054991" "00420" "00075216" "01695" "Unknown" "" "Stargardt disease; bilateral impairment of central vision, appearance of perimacular and/or peripheral yellow-white flecks," "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054992" "00420" "00075217" "01695" "Unknown" "" "Stargardt disease; bilateral impairment of central vision, appearance of perimacular and/or peripheral yellow-white flecks," "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054993" "00420" "00075218" "01695" "Unknown" "" "Stargardt disease; bilateral impairment of central vision, appearance of perimacular and/or peripheral yellow-white flecks," "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054994" "00420" "00075219" "01695" "Unknown" "" "Stargardt disease; bilateral impairment of central vision, appearance of perimacular and/or peripheral yellow-white flecks," "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054995" "00420" "00075220" "01695" "Unknown" "" "Stargardt disease; bilateral impairment of central vision, appearance of perimacular and/or peripheral yellow-white flecks," "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054996" "00420" "00075221" "01695" "Unknown" "" "Stargardt disease; bilateral impairment of central vision, appearance of perimacular and/or peripheral yellow-white flecks," "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054997" "00420" "00075222" "01695" "Unknown" "" "Stargardt disease; bilateral impairment of central vision, appearance of perimacular and/or peripheral yellow-white flecks," "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054998" "00420" "00075223" "01695" "Unknown" "" "Stargardt disease; bilateral impairment of central vision, appearance of perimacular and/or peripheral yellow-white flecks," "" "" "unknown" "" "" "" "" "" "" "" ""
"0000054999" "00420" "00075224" "01695" "Unknown" "" "Stargardt disease; bilateral impairment of central vision, appearance of perimacular and/or peripheral yellow-white flecks," "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055000" "00420" "00075225" "01695" "Unknown" "" "Stargardt disease; bilateral impairment of central vision, appearance of perimacular and/or peripheral yellow-white flecks," "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055001" "00420" "00075226" "01695" "Unknown" "" "Stargardt disease; bilateral impairment of central vision, appearance of perimacular and/or peripheral yellow-white flecks," "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055002" "00420" "00075227" "01695" "Unknown" "" "Stargardt disease; bilateral impairment of central vision, appearance of perimacular and/or peripheral yellow-white flecks," "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055003" "00420" "00075228" "01695" "Unknown" "" "Stargardt disease; bilateral impairment of central vision, appearance of perimacular and/or peripheral yellow-white flecks," "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055004" "00420" "00075229" "01695" "Unknown" "" "Stargardt disease; bilateral impairment of central vision, appearance of perimacular and/or peripheral yellow-white flecks," "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055005" "00420" "00075230" "01695" "Unknown" "" "Stargardt disease; bilateral impairment of central vision, appearance of perimacular and/or peripheral yellow-white flecks," "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055006" "00420" "00075231" "01695" "Unknown" "" "Stargardt disease; bilateral impairment of central vision, appearance of perimacular and/or peripheral yellow-white flecks," "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055007" "00420" "00075232" "01695" "Unknown" "" "Stargardt disease; bilateral impairment of central vision, appearance of perimacular and/or peripheral yellow-white flecks," "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055008" "00420" "00075233" "01695" "Unknown" "" "Stargardt disease; bilateral impairment of central vision, appearance of perimacular and/or peripheral yellow-white flecks," "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055009" "00420" "00075234" "01695" "Unknown" "" "Stargardt disease; bilateral impairment of central vision, appearance of perimacular and/or peripheral yellow-white flecks," "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055010" "00420" "00075235" "01695" "Unknown" "" "Stargardt disease; bilateral impairment of central vision, appearance of perimacular and/or peripheral yellow-white flecks," "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055011" "00420" "00075236" "01695" "Unknown" "" "Stargardt disease; bilateral impairment of central vision, appearance of perimacular and/or peripheral yellow-white flecks," "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055012" "00420" "00075237" "01695" "Unknown" "" "Stargardt disease; bilateral impairment of central vision, appearance of perimacular and/or peripheral yellow-white flecks," "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055013" "00420" "00075238" "01695" "Unknown" "" "Stargardt disease; bilateral impairment of central vision, appearance of perimacular and/or peripheral yellow-white flecks," "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055014" "00420" "00075239" "01695" "Unknown" "" "Stargardt disease; bilateral impairment of central vision, appearance of perimacular and/or peripheral yellow-white flecks," "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055015" "00420" "00075240" "01695" "Unknown" "" "Stargardt disease; bilateral impairment of central vision, appearance of perimacular and/or peripheral yellow-white flecks," "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055016" "00420" "00075241" "01695" "Unknown" "" "Stargardt disease; bilateral impairment of central vision, appearance of perimacular and/or peripheral yellow-white flecks," "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055017" "00420" "00075242" "01695" "Unknown" "" "Stargardt disease; bilateral impairment of central vision, appearance of perimacular and/or peripheral yellow-white flecks," "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055018" "00420" "00075243" "01695" "Unknown" "" "Stargardt disease; bilateral impairment of central vision, appearance of perimacular and/or peripheral yellow-white flecks," "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055019" "00420" "00075244" "01695" "Unknown" "" "Stargardt disease; bilateral impairment of central vision, appearance of perimacular and/or peripheral yellow-white flecks," "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055020" "00420" "00075245" "01695" "Unknown" "" "Stargardt disease; bilateral impairment of central vision, appearance of perimacular and/or peripheral yellow-white flecks," "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055021" "00420" "00075246" "01695" "Unknown" "" "Stargardt disease; bilateral impairment of central vision, appearance of perimacular and/or peripheral yellow-white flecks," "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055022" "00420" "00075247" "01695" "Unknown" "" "Stargardt disease; bilateral impairment of central vision, appearance of perimacular and/or peripheral yellow-white flecks," "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055023" "00420" "00075248" "01695" "Unknown" "" "Stargardt disease; bilateral impairment of central vision, appearance of perimacular and/or peripheral yellow-white flecks," "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055024" "00420" "00075249" "01695" "Unknown" "" "Stargardt disease; bilateral impairment of central vision, appearance of perimacular and/or peripheral yellow-white flecks," "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055025" "00420" "00075250" "01695" "Unknown" "" "Stargardt disease; bilateral impairment of central vision, appearance of perimacular and/or peripheral yellow-white flecks," "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055026" "00420" "00075251" "01695" "Unknown" "" "Stargardt disease; bilateral impairment of central vision, appearance of perimacular and/or peripheral yellow-white flecks," "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055027" "00420" "00075252" "01695" "Unknown" "" "Stargardt disease; bilateral impairment of central vision, appearance of perimacular and/or peripheral yellow-white flecks," "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055028" "00420" "00075253" "01695" "Unknown" "" "Stargardt disease; bilateral impairment of central vision, appearance of perimacular and/or peripheral yellow-white flecks," "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055029" "00420" "00075254" "01695" "Unknown" "" "Stargardt disease; bilateral impairment of central vision, appearance of perimacular and/or peripheral yellow-white flecks," "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055030" "00420" "00075255" "01695" "Unknown" "" "Stargardt disease; bilateral impairment of central vision, appearance of perimacular and/or peripheral yellow-white flecks," "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055031" "00420" "00075256" "01695" "Familial, autosomal recessive" "" "Stargardt disease, late onset; ophthalmoscopically characteristic retinal disorder, bilateral central vision loss, dark choroid" "36y" "" "visual impairment based on anamnestic medical records" "" "" "" "" "" "" "" ""
"0000055032" "00420" "00075257" "01695" "Familial, autosomal recessive" "" "Stargardt disease; ophthalmoscopically characteristic retinal disorder, bilateral central vision loss, dark choroid" "11y" "" "visual impairment based on anamnestic medical records" "" "" "" "" "" "" "" ""
"0000055033" "00420" "00075258" "01695" "Familial, autosomal recessive" "" "Stargardt disease; ophthalmoscopically characteristic retinal disorder, bilateral central vision loss, dark choroid" "8y" "" "visual impairment based on anamnestic medical records" "" "" "" "" "" "" "" ""
"0000055034" "00420" "00075259" "01695" "Familial, autosomal recessive" "" "Stargardt disease; ophthalmoscopically characteristic retinal disorder, bilateral central vision loss, dark choroid" "9y" "" "visual impairment based on anamnestic medical records" "" "" "" "" "" "" "" ""
"0000055035" "00420" "00075260" "01695" "Familial, autosomal recessive" "" "Stargardt disease, late onset; ophthalmoscopically characteristic retinal disorder, bilateral central vision loss, dark choroid" "35y" "" "visual impairment based on anamnestic medical records" "" "" "" "" "" "" "" ""
"0000055036" "00420" "00075261" "01695" "Familial, autosomal recessive" "" "Stargardt disease; ophthalmoscopically characteristic retinal disorder, bilateral central vision loss, dark choroid" "25y" "" "visual impairment based on anamnestic medical records" "" "" "" "" "" "" "" ""
"0000055037" "00420" "00075262" "01695" "Unknown" "" "Stargardt disease, late onset; ophthalmoscopically characteristic retinal disorder, bilateral central vision loss, dark choroid" "30y" "" "visual impairment based on anamnestic medical records" "" "" "" "" "" "" "" ""
"0000055038" "00420" "00075263" "01695" "Unknown" "" "Stargardt disease, late onset; ophthalmoscopically characteristic retinal disorder, bilateral central vision loss, dark choroid" "40y" "" "visual impairment based on anamnestic medical records" "" "" "" "" "" "" "" ""
"0000055039" "00420" "00075264" "01695" "Familial, autosomal recessive" "" "Stargardt disease, late onset; ophthalmoscopically characteristic retinal disorder, bilateral central vision loss, dark choroid" "30y" "" "visual impairment based on anamnestic medical records" "" "" "" "" "" "" "" ""
"0000055040" "00420" "00075265" "01695" "Familial, autosomal recessive" "" "Stargardt disease, late onset; ophthalmoscopically characteristic retinal disorder, bilateral central vision loss, dark choroid" "43y" "" "visual impairment based on anamnestic medical records" "" "" "" "" "" "" "" ""
"0000055041" "00420" "00075266" "01695" "Familial, autosomal recessive" "" "Stargardt disease, late onset; ophthalmoscopically characteristic retinal disorder, bilateral central vision loss, dark choroid" "40y" "" "visual impairment based on anamnestic medical records" "" "" "" "" "" "" "" ""
"0000055042" "00420" "00075267" "01695" "Familial, autosomal recessive" "" "Stargardt disease; ophthalmoscopically characteristic retinal disorder, bilateral central vision loss, dark choroid" "25y" "" "visual impairment based on anamnestic medical records" "" "" "" "" "" "" "" ""
"0000055043" "00420" "00075268" "01695" "Familial, autosomal recessive" "" "Stargardt disease, late onset; ophthalmoscopically characteristic retinal disorder, bilateral central vision loss, dark choroid" "41y" "" "visual impairment based on anamnestic medical records" "" "" "" "" "" "" "" ""
"0000055044" "00420" "00075269" "01695" "Isolated (sporadic)" "" "Stargardt disease, late onset; ophthalmoscopically characteristic retinal disorder, bilateral central vision loss, dark choroid" "38y" "" "visual impairment based on anamnestic medical records" "" "" "" "" "" "" "" ""
"0000055045" "00420" "00075270" "01695" "Unknown" "" "Stargardt disease, late onset; ophthalmoscopically characteristic retinal disorder, bilateral central vision loss, dark choroid" "44y" "" "visual impairment based on anamnestic medical records" "" "" "" "" "" "" "" ""
"0000055046" "00420" "00075271" "01695" "Unknown" "" "Stargardt disease, late onset; ophthalmoscopically characteristic retinal disorder, bilateral central vision loss, dark choroid" "36y" "" "visual impairment based on anamnestic medical records" "" "" "" "" "" "" "" ""
"0000055047" "00420" "00075272" "01695" "Unknown" "" "Stargardt disease, late onset; ophthalmoscopically characteristic retinal disorder, bilateral central vision loss, dark choroid" "52y" "" "visual impairment based on anamnestic medical records" "" "" "" "" "" "" "" ""
"0000055048" "00420" "00075273" "01695" "Familial, autosomal recessive" "" "Stargardt disease, late onset; ophthalmoscopically characteristic retinal disorder, bilateral central vision loss, dark choroid" "40y" "" "visual impairment based on anamnestic medical records" "" "" "" "" "" "" "" ""
"0000055049" "00420" "00075274" "01695" "Familial, autosomal recessive" "" "Stargardt disease, late onset; ophthalmoscopically characteristic retinal disorder, bilateral central vision loss, dark choroid" "29y" "" "visual impairment based on anamnestic medical records" "" "" "" "" "" "" "" ""
"0000055050" "00420" "00075275" "01695" "Unknown" "" "Stargardt disease, late onset; ophthalmoscopically characteristic retinal disorder, bilateral central vision loss, dark choroid" "43y" "" "visual impairment based on anamnestic medical records" "" "" "" "" "" "" "" ""
"0000055051" "00420" "00075276" "01695" "Familial, autosomal recessive" "" "Stargardt disease, late onset; ophthalmoscopically characteristic retinal disorder, bilateral central vision loss, dark choroid" "47y" "" "visual impairment based on anamnestic medical records" "" "" "" "" "" "" "" ""
"0000055052" "00420" "00075277" "01695" "Unknown" "" "Stargardt disease, late onset; ophthalmoscopically characteristic retinal disorder, bilateral central vision loss, dark choroid" "36y" "" "visual impairment based on anamnestic medical records" "" "" "" "" "" "" "" ""
"0000055053" "00420" "00075278" "01695" "Unknown" "" "Stargardt disease, late onset; ophthalmoscopically characteristic retinal disorder, bilateral central vision loss, dark choroid" "51y" "" "visual impairment based on anamnestic medical records" "" "" "" "" "" "" "" ""
"0000055054" "00420" "00075279" "01695" "Unknown" "" "Stargardt disease, late onset; ophthalmoscopically characteristic retinal disorder, bilateral central vision loss, dark choroid" "36y" "" "visual impairment based on anamnestic medical records" "" "" "" "" "" "" "" ""
"0000055055" "00420" "00075280" "01695" "Familial, autosomal recessive" "" "Stargardt disease, late onset; ophthalmoscopically characteristic retinal disorder, bilateral central vision loss, dark choroid" "39y" "" "visual impairment based on anamnestic medical records" "" "" "" "" "" "" "" ""
"0000055056" "00420" "00075281" "01695" "Unknown" "" "Stargardt disease, late onset; ophthalmoscopically characteristic retinal disorder, bilateral central vision loss, dark choroid" "40y" "" "visual impairment based on anamnestic medical records" "" "" "" "" "" "" "" ""
"0000055057" "00420" "00075282" "01695" "Unknown" "" "Stargardt disease, late onset; ophthalmoscopically characteristic retinal disorder, bilateral central vision loss, dark choroid" "39y" "" "visual impairment based on anamnestic medical records" "" "" "" "" "" "" "" ""
"0000055058" "00420" "00075283" "01695" "Familial, autosomal recessive" "" "Stargardt disease, late onset; ophthalmoscopically characteristic retinal disorder, bilateral central vision loss, dark choroid" "49y" "" "visual impairment based on anamnestic medical records" "" "" "" "" "" "" "" ""
"0000055059" "00420" "00075284" "01695" "Familial, autosomal recessive" "" "Stargardt disease; ophthalmoscopically characteristic retinal disorder, bilateral central vision loss, dark choroid" "11y" "" "visual impairment based on anamnestic medical records" "" "" "" "" "" "" "" ""
"0000055060" "00420" "00075285" "01695" "Familial, autosomal recessive" "" "Stargardt disease, late onset; ophthalmoscopically characteristic retinal disorder, bilateral central vision loss, dark choroid" "32y" "" "visual impairment based on anamnestic medical records" "" "" "" "" "" "" "" ""
"0000055061" "00420" "00075286" "01695" "Familial, autosomal recessive" "" "Stargardt disease, late onset; ophthalmoscopically characteristic retinal disorder, bilateral central vision loss, dark choroid" "36y" "" "visual impairment based on anamnestic medical records" "" "" "" "" "" "" "" ""
"0000055062" "00420" "00075287" "01695" "Unknown" "" "Stargardt disease, late onset; ophthalmoscopically characteristic retinal disorder, bilateral central vision loss, dark choroid" "50y" "" "visual impairment based on anamnestic medical records" "" "" "" "" "" "" "" ""
"0000055063" "00420" "00075288" "01695" "Familial, autosomal recessive" "" "Stargardt disease; ophthalmoscopically characteristic retinal disorder, bilateral central vision loss, dark choroid" "7y" "" "visual impairment based on anamnestic medical records" "" "" "" "" "" "" "" ""
"0000055064" "00420" "00075289" "01695" "Familial, autosomal recessive" "" "Stargardt disease; ophthalmoscopically characteristic retinal disorder, bilateral central vision loss, dark choroid" "13y" "" "visual impairment based on anamnestic medical records" "" "" "" "" "" "" "" ""
"0000055065" "00420" "00075290" "01695" "Unknown" "" "Stargardt disease, late onset; ophthalmoscopically characteristic retinal disorder, bilateral central vision loss, dark choroid" "65y" "" "visual impairment based on anamnestic medical records" "" "" "" "" "" "" "" ""
"0000055066" "00420" "00075291" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055067" "00420" "00075292" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055068" "00420" "00075293" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055069" "00420" "00075294" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055070" "00420" "00075295" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055071" "00420" "00075296" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055072" "00420" "00075297" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055073" "00420" "00075298" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055074" "00420" "00075299" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055075" "00420" "00075300" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055076" "00420" "00075301" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055077" "00420" "00075302" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055078" "00420" "00075303" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055079" "00420" "00075304" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055080" "00420" "00075305" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055081" "00420" "00075306" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055082" "00420" "00075307" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055083" "00420" "00075308" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055084" "00420" "00075309" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055085" "00420" "00075310" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055086" "00420" "00075311" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055087" "00420" "00075312" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055088" "00420" "00075313" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055089" "00420" "00075314" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055090" "00420" "00075315" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055091" "00420" "00075316" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055092" "00420" "00075317" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055093" "00420" "00075318" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055094" "00420" "00075319" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055095" "00420" "00075320" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055096" "00420" "00075321" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055097" "00420" "00075322" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055098" "00420" "00075323" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055099" "00420" "00075324" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055100" "00420" "00075325" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055101" "00420" "00075326" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055102" "00420" "00075327" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055103" "00420" "00075328" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055104" "00420" "00075329" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055105" "00420" "00075330" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055106" "00420" "00075331" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055107" "00420" "00075332" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055108" "00420" "00075333" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055109" "00420" "00075334" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055110" "00420" "00075335" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055111" "00420" "00075336" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055112" "00420" "00075337" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055113" "00420" "00075338" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055114" "00420" "00075339" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055115" "00420" "00075340" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055116" "00420" "00075341" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055117" "00420" "00075342" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055118" "00420" "00075343" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055119" "00420" "00075344" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055120" "00420" "00075345" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055121" "00420" "00075346" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055122" "00420" "00075347" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055123" "00420" "00075348" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055124" "00420" "00075349" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055125" "00420" "00075350" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055126" "00420" "00075351" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055127" "00420" "00075352" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055128" "00420" "00075353" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055129" "00420" "00075354" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055130" "00420" "00075355" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055131" "00420" "00075356" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055132" "00420" "00075357" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055133" "00420" "00075358" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055134" "00420" "00075359" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055135" "00420" "00075360" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055136" "00420" "00075361" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055137" "00420" "00075362" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055138" "00420" "00075363" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055139" "00420" "00075364" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055140" "00420" "00075365" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055141" "00420" "00075366" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055142" "00420" "00075367" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055143" "00420" "00075368" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055144" "00420" "00075369" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055145" "00420" "00075370" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055146" "00420" "00075371" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055147" "00420" "00075372" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055148" "00420" "00075373" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055149" "00420" "00075374" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055150" "00420" "00075375" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055151" "00420" "00075376" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055152" "00420" "00075377" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055153" "00420" "00075378" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055154" "00420" "00075379" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055155" "00420" "00075380" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055156" "00420" "00075381" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055157" "00420" "00075382" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055158" "00420" "00075383" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055159" "00420" "00075384" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055160" "00420" "00075385" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055161" "00420" "00075386" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055162" "00420" "00075387" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055163" "00420" "00075388" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055164" "00420" "00075389" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055165" "00420" "00075390" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055166" "00420" "00075391" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055167" "00420" "00075392" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055168" "00420" "00075393" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055169" "00420" "00075394" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055170" "00420" "00075395" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055171" "00420" "00075396" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055172" "00420" "00075397" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055173" "00420" "00075398" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055174" "00420" "00075399" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055175" "00420" "00075400" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055176" "00420" "00075401" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055177" "00420" "00075402" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055178" "00420" "00075403" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055179" "00420" "00075404" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055180" "00420" "00075405" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055181" "00420" "00075406" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055182" "00420" "00075407" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055183" "00420" "00075408" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055184" "00420" "00075409" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055185" "00420" "00075410" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055186" "00420" "00075411" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055187" "00420" "00075412" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055188" "00420" "00075413" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055189" "00420" "00075414" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055190" "00420" "00075415" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055191" "00420" "00075416" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055192" "00420" "00075417" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055193" "00420" "00075418" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055194" "00420" "00075419" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055195" "00420" "00075420" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055196" "00420" "00075421" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055197" "00420" "00075422" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055198" "00420" "00075423" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055199" "00420" "00075424" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055200" "00420" "00075425" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055201" "00420" "00075426" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055202" "00420" "00075427" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055203" "00420" "00075428" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055204" "00420" "00075429" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055205" "00420" "00075430" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055206" "00420" "00075431" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055207" "00420" "00075432" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055208" "00420" "00075433" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055209" "00420" "00075434" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055210" "00420" "00075435" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055211" "00420" "00075436" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055212" "00420" "00075437" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055213" "00420" "00075438" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055214" "00420" "00075439" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055215" "00420" "00075440" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055216" "00420" "00075441" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055217" "00420" "00075442" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055218" "00420" "00075443" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055219" "00420" "00075444" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055220" "00420" "00075445" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055221" "00420" "00075446" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055222" "00420" "00075447" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055223" "00420" "00075448" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055224" "00420" "00075449" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055225" "00420" "00075450" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055226" "00420" "00075451" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055227" "00420" "00075452" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055228" "00420" "00075453" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055229" "00420" "00075454" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055230" "00420" "00075455" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055231" "00420" "00075456" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055232" "00420" "00075457" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055233" "00420" "00075458" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055234" "00420" "00075459" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055235" "00420" "00075460" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055236" "00420" "00075461" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055237" "00420" "00075462" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055238" "00420" "00075463" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055239" "00420" "00075464" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055240" "00420" "00075465" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055241" "00420" "00075466" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055242" "00420" "00075467" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055243" "00420" "00075468" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055244" "00420" "00075469" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055245" "00420" "00075470" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055246" "00420" "00075471" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055247" "00420" "00075472" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055248" "00420" "00075473" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055249" "00420" "00075474" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055250" "00420" "00075475" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055251" "00420" "00075476" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055252" "00420" "00075477" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055253" "00420" "00075478" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055254" "00420" "00075479" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055255" "00420" "00075480" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055256" "00420" "00075481" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055257" "00420" "00075482" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055258" "00420" "00075483" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055259" "00420" "00075484" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055260" "00420" "00075485" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055261" "00420" "00075486" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055262" "00420" "00075487" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055263" "00420" "00075488" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055264" "00420" "00075489" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055265" "00420" "00075490" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055266" "00420" "00075491" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055267" "00420" "00075492" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055268" "00420" "00075493" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055269" "00420" "00075494" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055270" "00420" "00075495" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055271" "00420" "00075496" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055272" "00420" "00075497" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055273" "00420" "00075498" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055274" "00420" "00075499" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055275" "00420" "00075500" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055276" "00420" "00075501" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055277" "00420" "00075502" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055278" "00420" "00075503" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055279" "00420" "00075504" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055280" "00420" "00075505" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055281" "00420" "00075506" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055282" "00420" "00075507" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055283" "00420" "00075508" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055284" "00420" "00075509" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055285" "00420" "00075510" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055286" "00420" "00075511" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055287" "00420" "00075512" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055288" "00420" "00075513" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055289" "00420" "00075514" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055290" "00420" "00075515" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055291" "00420" "00075516" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055292" "00420" "00075517" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055293" "00420" "00075518" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055294" "00420" "00075519" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055295" "00420" "00075520" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055296" "00420" "00075521" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055297" "00420" "00075522" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055298" "00420" "00075523" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055299" "00420" "00075524" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055300" "00420" "00075525" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055301" "00420" "00075526" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055302" "00420" "00075527" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055303" "00420" "00075528" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055304" "00420" "00075529" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055305" "00420" "00075530" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055306" "00420" "00075531" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055307" "00420" "00075532" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055308" "00420" "00075533" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055309" "00420" "00075534" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055310" "00420" "00075535" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055311" "00420" "00075536" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055312" "00420" "00075537" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055313" "00420" "00075538" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055314" "00420" "00075539" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055315" "00420" "00075540" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055316" "00420" "00075541" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055317" "00420" "00075542" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055318" "00420" "00075543" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055319" "00420" "00075544" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055320" "00420" "00075545" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055321" "00420" "00075546" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055322" "00420" "00075547" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055323" "00420" "00075548" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055324" "00420" "00075549" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055325" "00420" "00075550" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055326" "00420" "00075551" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055327" "00420" "00075552" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055328" "00420" "00075553" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055329" "00420" "00075554" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055330" "00420" "00075555" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055331" "00420" "00075556" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055332" "00420" "00075557" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055333" "00420" "00075558" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055334" "00420" "00075559" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055335" "00420" "00075560" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055336" "00420" "00075561" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055337" "00420" "00075562" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055338" "00420" "00075563" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055339" "00420" "00075564" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055340" "00420" "00075565" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055341" "00420" "00075566" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055342" "00420" "00075567" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055343" "00420" "00075568" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055344" "00420" "00075569" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055345" "00420" "00075570" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055346" "00420" "00075571" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055347" "00420" "00075572" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055348" "00420" "00075573" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055349" "00420" "00075574" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055350" "00420" "00075575" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055351" "00420" "00075576" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055352" "00420" "00075577" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055353" "00420" "00075578" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055354" "00420" "00075579" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055355" "00420" "00075580" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055356" "00420" "00075581" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055357" "00420" "00075582" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055358" "00420" "00075583" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055359" "00420" "00075584" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055360" "00420" "00075585" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055361" "00420" "00075586" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055362" "00420" "00075587" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055363" "00420" "00075588" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055364" "00420" "00075589" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055365" "00420" "00075590" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055366" "00420" "00075591" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055367" "00420" "00075592" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055368" "00420" "00075593" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055369" "00420" "00075594" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055370" "00420" "00075595" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055371" "00420" "00075596" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055372" "00420" "00075597" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055373" "00420" "00075598" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055374" "00420" "00075599" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055375" "00420" "00075600" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055376" "00420" "00075601" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055377" "00420" "00075602" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055378" "00420" "00075603" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055379" "00420" "00075604" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055380" "00420" "00075605" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055381" "00420" "00075606" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055382" "00420" "00075607" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055383" "00420" "00075608" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055384" "00420" "00075609" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055385" "00420" "00075610" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055386" "00420" "00075611" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055387" "00420" "00075612" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055388" "00420" "00075613" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055389" "00420" "00075614" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055390" "00420" "00075615" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055391" "00420" "00075616" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055392" "00420" "00075617" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055393" "00420" "00075618" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055394" "00420" "00075619" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055395" "00420" "00075620" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055396" "00420" "00075621" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055397" "00420" "00075622" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055398" "00420" "00075623" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055399" "00420" "00075624" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055400" "00420" "00075625" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055401" "00420" "00075626" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055402" "00420" "00075627" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055403" "00420" "00075628" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055404" "00420" "00075629" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055405" "00420" "00075630" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055406" "00420" "00075631" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055407" "00420" "00075632" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055408" "00420" "00075633" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055409" "00420" "00075634" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055410" "00420" "00075635" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055411" "00420" "00075636" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055412" "00420" "00075637" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055413" "00420" "00075638" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055414" "00420" "00075639" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055415" "00420" "00075640" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055416" "00420" "00075641" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055417" "00420" "00075642" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055418" "00420" "00075643" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055419" "00420" "00075644" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055420" "00420" "00075645" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055421" "00420" "00075646" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055422" "00420" "00075647" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055423" "00420" "00075648" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055424" "00420" "00075649" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055425" "00420" "00075650" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055426" "00420" "00075651" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055427" "00420" "00075652" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055428" "00420" "00075653" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055429" "00420" "00075654" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055430" "00420" "00075655" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055431" "00420" "00075656" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055432" "00420" "00075657" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055433" "00420" "00075658" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055434" "00420" "00075659" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055435" "00420" "00075660" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055436" "00420" "00075661" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055437" "00420" "00075662" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055438" "00420" "00075663" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055439" "00420" "00075664" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055440" "00420" "00075665" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055441" "00420" "00075666" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055442" "00420" "00075667" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055443" "00420" "00075668" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055444" "00420" "00075669" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055445" "00420" "00075670" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055446" "00420" "00075671" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055447" "00420" "00075672" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055448" "00420" "00075673" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055449" "00420" "00075674" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055450" "00420" "00075675" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055451" "00420" "00075676" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055452" "00420" "00075677" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055453" "00420" "00075678" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055454" "00420" "00075679" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055455" "00420" "00075680" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055456" "00420" "00075681" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055457" "00420" "00075682" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055458" "00420" "00075683" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055459" "00420" "00075684" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055460" "00420" "00075685" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055461" "00420" "00075686" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055462" "00420" "00075687" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055463" "00420" "00075688" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055464" "00420" "00075689" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055465" "00420" "00075690" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055466" "00420" "00075691" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055467" "00420" "00075692" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055468" "00420" "00075693" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055469" "00420" "00075694" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055470" "00420" "00075695" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055471" "00420" "00075696" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055472" "00420" "00075697" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055473" "00420" "00075698" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055474" "00420" "00075699" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055475" "00420" "00075700" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055476" "00420" "00075701" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055477" "00420" "00075702" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055478" "00420" "00075703" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055479" "00420" "00075704" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055480" "00420" "00075705" "01695" "Unknown" "" "Stargardt disease; difficulty with central vision that eventually progresses to the level of legal blindness, “beaten bronze” appearance of the central region of the retina (the macula), with small yellow flecks scattered more peripherally" "" "" "0" "" "" "" "" "" "" "" ""
"0000055481" "00420" "00075706" "01695" "Familial, autosomal recessive" "" "Stargardt disease; bull’s eye depigmentation of the fovea and a wreath of perifoveal flecks in each eye, dark choroid, ERG showed slightly delayed implicit times" "15y" "" "blurred vision" "" "" "" "" "" "" "" ""
"0000055482" "04214" "00075707" "01695" "Familial, autosomal recessive" "" "retinitis pigmentosa; progressive loss of visual acuity and peripheral fields posterior cortical cataracts, optic atrophy, attenuated retinal vasculature, and scattered bone spicule formation in each eye" "10y" "" "night blindness" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000055483" "04214" "00075708" "01695" "Familial, autosomal recessive" "" "retinitis pigmentosa; light perception only in each eye, and the retinal examination documented advanced extensive pigmentary retinopathy with optic atrophy and dense diffuse bone spicule formations in each eye; age onset 0-10y" "" "" "progressive loss of both dim light and peripheral vision" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000055484" "00420" "00075709" "01695" "Unknown" "" "Stargardt disease; juvenile-to-adult onset of symptoms, bilateral central vision loss, typical ophthalmoscopic features consisting of macular dystrophy and/or atrophy (beaten bronze appearance or large patch of atrophy), macular lesions are associated with the presence of flecks localized exclusively to the posterior pole OD 20/200, OS 20/200" "29y" "" "0" "" "" "" "" "" "" "" ""
"0000055485" "00420" "00075710" "01695" "Unknown" "" "Stargardt disease; juvenile-to-adult onset of symptoms, bilateral central vision loss, typical ophthalmoscopic features consisting of macular dystrophy and/or atrophy (beaten bronze appearance or large patch of atrophy), macular lesions are associated with the presence of flecks localized exclusively to the posterior pole, OD 20/400, OS 20/400" "8y" "" "0" "" "" "" "" "" "" "" ""
"0000055486" "00420" "00075711" "01695" "Unknown" "" "Stargardt disease; juvenile-to-adult onset of symptoms, bilateral central vision loss, typical ophthalmoscopic features consisting of macular dystrophy and/or atrophy (beaten bronze appearance or large patch of atrophy), macular lesions are associated with the presence of flecks localized exclusively to the posterior pole, OD 20/50, OS 20/200" "29y" "" "0" "" "" "" "" "" "" "" ""
"0000055487" "00420" "00075712" "01695" "Unknown" "" "Stargardt disease; juvenile-to-adult onset of symptoms, bilateral central vision loss, typical ophthalmoscopic features consisting of macular dystrophy and/or atrophy (beaten bronze appearance or large patch of atrophy), flecks distributed throughout the fundus OD 20/400, OS 20/400" "25y" "" "0" "" "" "" "" "" "" "" ""
"0000055488" "00420" "00075713" "01695" "Unknown" "" "Stargardt disease; juvenile-to-adult onset of symptoms, bilateral central vision loss, typical ophthalmoscopic features consisting of macular dystrophy and/or atrophy (beaten bronze appearance or large patch of atrophy), flecks distributed throughout the fundus OD 20/200, OS 20/200" "20y" "" "0" "" "" "" "" "" "" "" ""
"0000055489" "00420" "00075714" "01695" "Unknown" "" "Stargardt disease; juvenile-to-adult onset of symptoms, bilateral central vision loss, typical ophthalmoscopic features consisting of macular dystrophy and/or atrophy (beaten bronze appearance or large patch of atrophy), macular lesions are associated with the presence of flecks localized exclusively to the posterior pole, OD 20/20, OS 20/125" "50y" "" "0" "" "" "" "" "" "" "" ""
"0000055490" "00420" "00075715" "01695" "Unknown" "" "Stargardt disease; juvenile-to-adult onset of symptoms, bilateral central vision loss, typical ophthalmoscopic features consisting of macular dystrophy and/or atrophy (beaten bronze appearance or large patch of atrophy), macular lesions are associated with the presence of flecks localized exclusively to the posterior pole, OD <20/400, OS 20/400" "40y" "" "0" "" "" "" "" "" "" "" ""
"0000055491" "00420" "00075716" "01695" "Unknown" "" "Stargardt disease; juvenile-to-adult onset of symptoms, bilateral central vision loss, typical ophthalmoscopic features consisting of macular dystrophy and/or atrophy (beaten bronze appearance or large patch of atrophy), macular lesions are associated with the presence of flecks localized exclusively to the posterior pole, OD 20/200, OS 20/50" "30y" "" "0" "" "" "" "" "" "" "" ""
"0000055492" "00420" "00075717" "01695" "Unknown" "" "Stargardt disease; juvenile-to-adult onset of symptoms, bilateral central vision loss, typical ophthalmoscopic features consisting of macular dystrophy and/or atrophy (beaten bronze appearance or large patch of atrophy), macular lesions are associated with the presence of flecks localized exclusively to the posterior pole, OD 20/100, OS 20/200" "14y" "" "0" "" "" "" "" "" "" "" ""
"0000055493" "00420" "00075718" "01695" "Unknown" "" "Stargardt disease; juvenile-to-adult onset of symptoms, bilateral central vision loss, typical ophthalmoscopic features consisting of macular dystrophy and/or atrophy (beaten bronze appearance or large patch of atrophy), macular lesions are associated with the presence of flecks localized exclusively to the posterior pole, OD 20/400, OS 20/200" "31y" "" "0" "" "" "" "" "" "" "" ""
"0000055494" "00420" "00075719" "01695" "Unknown" "" "Stargardt disease; juvenile-to-adult onset of symptoms, bilateral central vision loss, typical ophthalmoscopic features consisting of macular dystrophy and/or atrophy (beaten bronze appearance or large patch of atrophy), macular lesions, consisting of pigmentary changes and macular atrophy with the beaten bronze appearance or a patch of atrophy in advanced cases, OD 20/200, OS 20/200" "29y" "" "0" "" "" "" "" "" "" "" ""
"0000055495" "00420" "00075720" "01695" "Unknown" "" "Stargardt disease; juvenile-to-adult onset of symptoms, bilateral central vision loss, typical ophthalmoscopic features consisting of macular dystrophy and/or atrophy (beaten bronze appearance or large patch of atrophy), macular lesions, consisting of pigmentary changes and macular atrophy with the beaten bronze appearance or a patch of atrophy in advanced cases, OD 20/200, OS 20/200" "16y" "" "0" "" "" "" "" "" "" "" ""
"0000055496" "00420" "00075721" "01695" "Familial, autosomal recessive" "" "Stargardt disease; juvenile-to-adult onset of symptoms, bilateral central vision loss, typical ophthalmoscopic features consisting of macular dystrophy and/or atrophy (beaten bronze appearance or large patch of atrophy), macular lesions are associated with the presence of flecks localized exclusively to the posterior pole, OD 20/200, OS 20/200" "26y" "" "0" "" "" "" "" "" "" "" ""
"0000055497" "00420" "00075722" "01695" "Unknown" "" "Stargardt disease; juvenile-to-adult onset of symptoms, bilateral central vision loss, typical ophthalmoscopic features consisting of macular dystrophy and/or atrophy (beaten bronze appearance or large patch of atrophy), macular lesions are associated with the presence of flecks localized exclusively to the posterior pole, OD 20/200, OS 20/200" "23y" "" "0" "" "" "" "" "" "" "" ""
"0000055498" "00420" "00075723" "01695" "Unknown" "" "Stargardt disease; juvenile-to-adult onset of symptoms, bilateral central vision loss, typical ophthalmoscopic features consisting of macular dystrophy and/or atrophy (beaten bronze appearance or large patch of atrophy), macular lesions are associated with the presence of flecks localized exclusively to the posterior pole, OD 20/200, OS 20/200" "33y" "" "0" "" "" "" "" "" "" "" ""
"0000055499" "00420" "00075724" "01695" "Unknown" "" "Stargardt disease; juvenile-to-adult onset of symptoms, bilateral central vision loss, typical ophthalmoscopic features consisting of macular dystrophy and/or atrophy (beaten bronze appearance or large patch of atrophy), flecks distributed throughout the fundus OD <20/400, OS <20/400" "10y" "" "0" "" "" "" "" "" "" "" ""
"0000055500" "00420" "00075725" "01695" "Unknown" "" "Stargardt disease; juvenile-to-adult onset of symptoms, bilateral central vision loss, typical ophthalmoscopic features consisting of macular dystrophy and/or atrophy (beaten bronze appearance or large patch of atrophy), macular lesions, consisting of pigmentary changes and macular atrophy with the beaten bronze appearance or a patch of atrophy in advanced cases, OD 20/50, OS 20/200" "16y" "" "0" "" "" "" "" "" "" "" ""
"0000055501" "00420" "00075726" "01695" "Unknown" "" "Stargardt disease; juvenile-to-adult onset of symptoms, bilateral central vision loss, typical ophthalmoscopic features consisting of macular dystrophy and/or atrophy (beaten bronze appearance or large patch of atrophy), flecks distributed throughout the fundus OD 20/25, OS 20/25" "37y" "" "0" "" "" "" "" "" "" "" ""
"0000055502" "00420" "00075727" "01695" "Unknown" "" "Stargardt disease; juvenile-to-adult onset of symptoms, bilateral central vision loss, typical ophthalmoscopic features consisting of macular dystrophy and/or atrophy (beaten bronze appearance or large patch of atrophy), flecks distributed throughout the fundus OD 20/200, OS 20/200" "10y" "" "0" "" "" "" "" "" "" "" ""
"0000055503" "00420" "00075728" "01695" "Unknown" "" "Stargardt disease; juvenile-to-adult onset of symptoms, bilateral central vision loss, typical ophthalmoscopic features consisting of macular dystrophy and/or atrophy (beaten bronze appearance or large patch of atrophy), flecks distributed throughout the fundus OD 20/200, OS 20/200" "23y" "" "0" "" "" "" "" "" "" "" ""
"0000055504" "00420" "00075729" "01695" "Familial, autosomal recessive" "" "Stargardt disease; juvenile-to-adult onset of symptoms, bilateral central vision loss, typical ophthalmoscopic features consisting of macular dystrophy and/or atrophy (beaten bronze appearance or large patch of atrophy), macular lesions are associated with the presence of flecks localized exclusively to the posterior pole, OD 20/100, OS 20/100" "12y" "" "0" "" "" "" "" "" "" "" ""
"0000055505" "00420" "00075730" "01695" "Familial, autosomal recessive" "" "Stargardt disease; juvenile-to-adult onset of symptoms, bilateral central vision loss, typical ophthalmoscopic features consisting of macular dystrophy and/or atrophy (beaten bronze appearance or large patch of atrophy), macular lesions, consisting of pigmentary changes and macular atrophy with the beaten bronze appearance or a patch of atrophy in advanced cases, OD 20/200, OS 20/200" "14y" "" "0" "" "" "" "" "" "" "" ""
"0000055506" "00420" "00075731" "01695" "Unknown" "" "Stargardt disease; juvenile-to-adult onset of symptoms, bilateral central vision loss, typical ophthalmoscopic features consisting of macular dystrophy and/or atrophy (beaten bronze appearance or large patch of atrophy), macular lesions are associated with the presence of flecks localized exclusively to the posterior pole, OD 20/200, OS 20/200" "13y" "" "0" "" "" "" "" "" "" "" ""
"0000055507" "00420" "00075732" "01695" "Familial, autosomal recessive" "" "Stargardt disease; juvenile-to-adult onset of symptoms, bilateral central vision loss, typical ophthalmoscopic features consisting of macular dystrophy and/or atrophy (beaten bronze appearance or large patch of atrophy), flecks distributed throughout the fundus OD 20/400, OS 20/400" "10y" "" "0" "" "" "" "" "" "" "" ""
"0000055508" "00420" "00075733" "01695" "Familial, autosomal recessive" "" "Stargardt disease; juvenile-to-adult onset of symptoms, bilateral central vision loss, typical ophthalmoscopic features consisting of macular dystrophy and/or atrophy (beaten bronze appearance or large patch of atrophy), macular lesions, consisting of pigmentary changes and macular atrophy with the beaten bronze appearance or a patch of atrophy in advanced cases, OD 20/100, OS 20/100" "10y" "" "0" "" "" "" "" "" "" "" ""
"0000055509" "00420" "00075734" "01695" "Unknown" "" "Stargardt disease; juvenile-to-adult onset of symptoms, bilateral central vision loss, typical ophthalmoscopic features consisting of macular dystrophy and/or atrophy (beaten bronze appearance or large patch of atrophy), macular lesions are associated with the presence of flecks localized exclusively to the posterior pole, OD 20/100, OS 20/100" "34y" "" "0" "" "" "" "" "" "" "" ""
"0000055510" "00420" "00075735" "01695" "Unknown" "" "Stargardt disease; juvenile-to-adult onset of symptoms, bilateral central vision loss, typical ophthalmoscopic features consisting of macular dystrophy and/or atrophy (beaten bronze appearance or large patch of atrophy), macular lesions are associated with the presence of flecks localized exclusively to the posterior pole, OD 20/200, OS 20/200" "38y" "" "0" "" "" "" "" "" "" "" ""
"0000055511" "00420" "00075736" "01695" "Unknown" "" "Stargardt disease; juvenile-to-adult onset of symptoms, bilateral central vision loss, typical ophthalmoscopic features consisting of macular dystrophy and/or atrophy (beaten bronze appearance or large patch of atrophy), flecks distributed throughout the fundus OD 20/400, OS 20/400" "22y" "" "0" "" "" "" "" "" "" "" ""
"0000055512" "00420" "00075737" "01695" "Unknown" "" "Stargardt disease; juvenile-to-adult onset of symptoms, bilateral central vision loss, typical ophthalmoscopic features consisting of macular dystrophy and/or atrophy (beaten bronze appearance or large patch of atrophy), macular lesions are associated with the presence of flecks localized exclusively to the posterior pole, OD 20/70, OS 20/40" "23y" "" "0" "" "" "" "" "" "" "" ""
"0000055513" "00420" "00075738" "01695" "Unknown" "" "Stargardt disease; juvenile-to-adult onset of symptoms, bilateral central vision loss, typical ophthalmoscopic features consisting of macular dystrophy and/or atrophy (beaten bronze appearance or large patch of atrophy), macular lesions, consisting of pigmentary changes and macular atrophy with the beaten bronze appearance or a patch of atrophy in advanced cases, OD 20/70, OS 20/50" "16y" "" "0" "" "" "" "" "" "" "" ""
"0000055514" "00420" "00075739" "01695" "Unknown" "" "Stargardt disease; juvenile-to-adult onset of symptoms, bilateral central vision loss, typical ophthalmoscopic features consisting of macular dystrophy and/or atrophy (beaten bronze appearance or large patch of atrophy), macular lesions, consisting of pigmentary changes and macular atrophy with the beaten bronze appearance or a patch of atrophy in advanced cases, OD 20/30, OS 20/70" "14y" "" "0" "" "" "" "" "" "" "" ""
"0000055515" "00420" "00075740" "01695" "Unknown" "" "Stargardt disease; juvenile-to-adult onset of symptoms, bilateral central vision loss, typical ophthalmoscopic features consisting of macular dystrophy and/or atrophy (beaten bronze appearance or large patch of atrophy), macular lesions are associated with the presence of flecks localized exclusively to the posterior pole, OD 20/100, OS 20/100" "10y" "" "0" "" "" "" "" "" "" "" ""
"0000055516" "00420" "00075741" "01695" "Unknown" "" "Stargardt disease; juvenile-to-adult onset of symptoms, bilateral central vision loss, typical ophthalmoscopic features consisting of macular dystrophy and/or atrophy (beaten bronze appearance or large patch of atrophy), macular lesions are associated with the presence of flecks localized exclusively to the posterior pole, OD 20/200, OS 20/200" "13y" "" "0" "" "" "" "" "" "" "" ""
"0000055517" "00420" "00075742" "01695" "Unknown" "" "Stargardt disease; juvenile-to-adult onset of symptoms, bilateral central vision loss, typical ophthalmoscopic features consisting of macular dystrophy and/or atrophy (beaten bronze appearance or large patch of atrophy), macular lesions are associated with the presence of flecks localized exclusively to the posterior pole, OD 20/70, OS 20/50" "24y" "" "0" "" "" "" "" "" "" "" ""
"0000055518" "00420" "00075743" "01695" "Unknown" "" "Stargardt disease; juvenile-to-adult onset of symptoms, bilateral central vision loss, typical ophthalmoscopic features consisting of macular dystrophy and/or atrophy (beaten bronze appearance or large patch of atrophy), macular lesions are associated with the presence of flecks localized exclusively to the posterior pole, OD 20/100, OS 20/100" "24y" "" "0" "" "" "" "" "" "" "" ""
"0000055519" "00420" "00075744" "01695" "Familial, autosomal recessive" "" "Stargardt disease; juvenile-to-adult onset of symptoms, bilateral central vision loss, typical ophthalmoscopic features consisting of macular dystrophy and/or atrophy (beaten bronze appearance or large patch of atrophy), macular lesions are associated with the presence of flecks localized exclusively to the posterior pole, OD 20/70, OS 20/70" "20y" "" "0" "" "" "" "" "" "" "" ""
"0000055520" "00420" "00075745" "01695" "Unknown" "" "Stargardt disease; juvenile-to-adult onset of symptoms, bilateral central vision loss, typical ophthalmoscopic features consisting of macular dystrophy and/or atrophy (beaten bronze appearance or large patch of atrophy), macular lesions are associated with the presence of flecks localized exclusively to the posterior pole, OD 20/400, OS 20/400" "11y" "" "0" "" "" "" "" "" "" "" ""
"0000055521" "00420" "00075746" "01695" "Unknown" "" "Stargardt disease; juvenile-to-adult onset of symptoms, bilateral central vision loss, typical ophthalmoscopic features consisting of macular dystrophy and/or atrophy (beaten bronze appearance or large patch of atrophy), macular lesions are associated with the presence of flecks localized exclusively to the posterior pole, OD <20/400, OS 20/400" "10y" "" "0" "" "" "" "" "" "" "" ""
"0000055522" "00420" "00075747" "01695" "Familial, autosomal recessive" "" "Stargardt disease; juvenile-to-adult onset of symptoms, bilateral central vision loss, typical ophthalmoscopic features consisting of macular dystrophy and/or atrophy (beaten bronze appearance or large patch of atrophy), macular lesions are associated with the presence of flecks localized exclusively to the posterior pole, OD 20/100, OS 20/200" "22y" "" "0" "" "" "" "" "" "" "" ""
"0000055523" "00420" "00075748" "01695" "Familial, autosomal recessive" "" "Stargardt disease; juvenile-to-adult onset of symptoms, bilateral central vision loss, typical ophthalmoscopic features consisting of macular dystrophy and/or atrophy (beaten bronze appearance or large patch of atrophy), macular lesions are associated with the presence of flecks localized exclusively to the posterior pole, OD 20/20, OS 20/25" "29y" "" "0" "" "" "" "" "" "" "" ""
"0000055524" "00420" "00075749" "01695" "Unknown" "" "Stargardt disease; juvenile-to-adult onset of symptoms, bilateral central vision loss, typical ophthalmoscopic features consisting of macular dystrophy and/or atrophy (beaten bronze appearance or large patch of atrophy), flecks distributed throughout the fundus OD <20/400, OS 20/100" "16y" "" "0" "" "" "" "" "" "" "" ""
"0000055525" "04214" "00075750" "01695" "Unknown" "" "retinitis pigmentosa; Night blindness, greater loss of rod than cone ERG amplitudes, classic bone-spicule pigmentation, OD 20/30, OS 20/25" "<19y" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000055526" "00058" "00075751" "01695" "Familial, autosomal recessive" "" "cone-rod dystrophy (HP:0000510); Reduced acuity at an early age, peripheral field loss, loss of cone ERG responses at a rate equal to or greater than the loss of rod responses, OD LP, OS 20/700, dark choroid, retinal pigment epithelium mottling and pigment clumping in periphery, diffuse chorioretinal atrophy in the macula" "<53y" "" "unknown" "" "" "" "" "" "" "" ""
"0000055527" "00058" "00075752" "01695" "Familial, autosomal recessive" "" "cone-rod dystrophy (HP:0000510); Reduced acuity at an early age, peripheral field loss, loss of cone ERG responses at a rate equal to or greater than the loss of rod responses," "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055528" "00058" "00075753" "01695" "Familial, autosomal recessive" "" "cone-rod dystrophy (HP:0000510); Reduced acuity at an early age, peripheral field loss, loss of cone ERG responses at a rate equal to or greater than the loss of rod responses, OD 20/30, OS 20/25" "<9y" "" "unknown" "" "" "" "" "" "" "" ""
"0000055529" "00058" "00075754" "01695" "Unknown" "" "cone-rod dystrophy (HP:0000510); Reduced acuity at an early age, peripheral field loss, loss of cone ERG responses at a rate equal to or greater than the loss of rod responses, OD 20/30, OS 20/40, diffuse chorioretinal atrophy in the macula, drusen in the periphery" "<41y" "" "unknown" "" "" "" "" "" "" "" ""
"0000055530" "00058" "00075755" "01695" "Unknown" "" "cone-rod dystrophy (HP:0000510); Reduced acuity at an early age, peripheral field loss, loss of cone ERG responses at a rate equal to or greater than the loss of rod responses, OD 20/280, OS 20/240, beaten metal in the macula, bone-spicule pigment" "<19y" "" "unknown" "" "" "" "" "" "" "" ""
"0000055531" "00058" "00075756" "01695" "Unknown" "" "cone-rod dystrophy (HP:0000510); Reduced acuity at an early age, peripheral field loss, loss of cone ERG responses at a rate equal to or greater than the loss of rod responses, OD 20/50, OS 20/320, diffuse chorioretinal atrophy, retinal pigment epithelium thinning in the periphery" "<25y" "" "unknown" "" "" "" "" "" "" "" ""
"0000055532" "00058" "00075757" "01695" "Unknown" "" "cone-rod dystrophy (HP:0000510); Reduced acuity at an early age, peripheral field loss, loss of cone ERG responses at a rate equal to or greater than the loss of rod responses, OD 20/200, OS 20/160, beaten metal in the macula, flecks in the periphery, dark choroid" "<13y" "" "unknown" "" "" "" "" "" "" "" ""
"0000055533" "00058" "00075758" "01695" "Unknown" "" "cone-rod dystrophy (HP:0000510); Reduced acuity at an early age, peripheral field loss, loss of cone ERG responses at a rate equal to or greater than the loss of rod responses, OD 20/360, OS 20/400, diffuse chorioretinal atrophy in the macula, multiple areas of focal chorioretinal atrophy in the periphery" "<45y" "" "unknown" "" "" "" "" "" "" "" ""
"0000055534" "00058" "00075759" "01695" "Unknown" "" "cone-rod dystrophy (HP:0000510); Reduced acuity at an early age, peripheral field loss, loss of cone ERG responses at a rate equal to or greater than the loss of rod responses, OD CF, OS 20/360, diffuse chorioretinal atrophy and pigment clumping in the macula, flecks and pigment in the periphery" "<41y" "" "unknown" "" "" "" "" "" "" "" ""
"0000055535" "00058" "00075760" "01695" "Unknown" "" "cone-rod dystrophy (HP:0000510); Reduced acuity at an early age, peripheral field loss, loss of cone ERG responses at a rate equal to or greater than the loss of rod responses, OD 20/800, OS CF, pigment clumping in periphery, diffuse chorioretinal atrophy in the macula" "<37y" "" "unknown" "" "" "" "" "" "" "" ""
"0000055536" "00058" "00075761" "01695" "Unknown" "" "cone-rod dystrophy (HP:0000510); Reduced acuity at an early age, peripheral field loss, loss of cone ERG responses at a rate equal to or greater than the loss of rod responses, OD 20/160, OS 20/250, beaten metal and retinal pigment epithelium window defects in the macula, widespread degeneration in the periphery" "<28y" "" "unknown" "" "" "" "" "" "" "" ""
"0000055537" "00058" "00075762" "01695" "Unknown" "" "cone-rod dystrophy (HP:0000510); Reduced acuity at an early age, peripheral field loss, loss of cone ERG responses at a rate equal to or greater than the loss of rod responses, OD 20/60, OS 20/30, retinal pigment epithelium mottling in the periphery, normal macula" "<21y" "" "unknown" "" "" "" "" "" "" "" ""
"0000055538" "00420" "00075763" "01695" "Familial, autosomal recessive" "" "Stargardt disease; an ophtalmoscopically characteristic retinal disorder, bilateral central visual loss with both \"beaten metal\" elliptical foveal dystrophy and temporal pallor of the optic discs, documented by retinal color photography, characteristic fluorescein angiographic feature of a dark choroid" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055539" "00420" "00075764" "01695" "Familial, autosomal recessive" "" "Stargardt disease; an ophtalmoscopically characteristic retinal disorder, bilateral central visual loss with both \"beaten metal\" elliptical foveal dystrophy and temporal pallor of the optic discs, documented by retinal color photography, characteristic fluorescein angiographic feature of a dark choroid" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055540" "00420" "00075765" "01695" "Unknown" "" "Stargardt disease; an ophtalmoscopically characteristic retinal disorder, bilateral central visual loss with both \"beaten metal\" elliptical foveal dystrophy and temporal pallor of the optic discs, documented by retinal color photography, characteristic fluorescein angiographic feature of a dark choroid" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055541" "00420" "00075766" "01695" "Unknown" "" "Stargardt disease; an ophtalmoscopically characteristic retinal disorder, bilateral central visual loss with both \"beaten metal\" elliptical foveal dystrophy and temporal pallor of the optic discs, documented by retinal color photography, characteristic fluorescein angiographic feature of a dark choroid" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055542" "00420" "00075767" "01695" "Familial, autosomal recessive" "" "Stargardt disease; an ophtalmoscopically characteristic retinal disorder, bilateral central visual loss with both \"beaten metal\" elliptical foveal dystrophy and temporal pallor of the optic discs, documented by retinal color photography, characteristic fluorescein angiographic feature of a dark choroid" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055543" "00420" "00075768" "01695" "Familial, autosomal recessive" "" "Stargardt disease; an ophtalmoscopically characteristic retinal disorder, bilateral central visual loss with both \"beaten metal\" elliptical foveal dystrophy and temporal pallor of the optic discs, documented by retinal color photography, characteristic fluorescein angiographic feature of a dark choroid" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055544" "00420" "00075769" "01695" "Unknown" "" "Stargardt disease; an ophtalmoscopically characteristic retinal disorder, bilateral central visual loss with both \"beaten metal\" elliptical foveal dystrophy and temporal pallor of the optic discs, documented by retinal color photography, characteristic fluorescein angiographic feature of a dark choroid" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055545" "00420" "00075770" "01695" "Unknown" "" "Stargardt disease; an ophtalmoscopically characteristic retinal disorder, bilateral central visual loss with both \"beaten metal\" elliptical foveal dystrophy and temporal pallor of the optic discs, documented by retinal color photography, characteristic fluorescein angiographic feature of a dark choroid" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055546" "00420" "00075771" "01695" "Familial, autosomal recessive" "" "Stargardt disease; an ophtalmoscopically characteristic retinal disorder, bilateral central visual loss with both \"beaten metal\" elliptical foveal dystrophy and temporal pallor of the optic discs, documented by retinal color photography, characteristic fluorescein angiographic feature of a dark choroid" "14y" "" "unknown" "" "" "" "" "" "" "" ""
"0000055547" "00420" "00075772" "01695" "Familial, autosomal recessive" "" "Stargardt disease; an ophtalmoscopically characteristic retinal disorder, bilateral central visual loss with both \"beaten metal\" elliptical foveal dystrophy and temporal pallor of the optic discs, documented by retinal color photography, characteristic fluorescein angiographic feature of a dark choroid" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055548" "00420" "00075773" "01695" "Familial, autosomal recessive" "" "Stargardt disease; an ophtalmoscopically characteristic retinal disorder, bilateral central visual loss with both \"beaten metal\" elliptical foveal dystrophy and temporal pallor of the optic discs, documented by retinal color photography, characteristic fluorescein angiographic feature of a dark choroid" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055549" "00420" "00075774" "01695" "Unknown" "" "Stargardt disease; an ophtalmoscopically characteristic retinal disorder, bilateral central visual loss with both \"beaten metal\" elliptical foveal dystrophy and temporal pallor of the optic discs, documented by retinal color photography, characteristic fluorescein angiographic feature of a dark choroid" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055550" "00420" "00075775" "01695" "Familial, autosomal recessive" "" "Stargardt disease; an ophtalmoscopically characteristic retinal disorder, bilateral central visual loss with both \"beaten metal\" elliptical foveal dystrophy and temporal pallor of the optic discs, documented by retinal color photography, characteristic fluorescein angiographic feature of a dark choroid" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055551" "00420" "00075776" "01695" "Familial, autosomal recessive" "" "Stargardt disease; an ophtalmoscopically characteristic retinal disorder, bilateral central visual loss with both \"beaten metal\" elliptical foveal dystrophy and temporal pallor of the optic discs, documented by retinal color photography, characteristic fluorescein angiographic feature of a dark choroid" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055552" "00420" "00075777" "01695" "Unknown" "" "Stargardt disease; an ophtalmoscopically characteristic retinal disorder, bilateral central visual loss with both \"beaten metal\" elliptical foveal dystrophy and temporal pallor of the optic discs, documented by retinal color photography, characteristic fluorescein angiographic feature of a dark choroid" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055553" "00420" "00075778" "01695" "Familial, autosomal recessive" "" "Stargardt disease; an ophtalmoscopically characteristic retinal disorder, bilateral central visual loss with both \"beaten metal\" elliptical foveal dystrophy and temporal pallor of the optic discs, documented by retinal color photography, characteristic fluorescein angiographic feature of a dark choroid" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055554" "00420" "00075779" "01695" "Familial, autosomal recessive" "" "Stargardt disease; an ophtalmoscopically characteristic retinal disorder, bilateral central visual loss with both \"beaten metal\" elliptical foveal dystrophy and temporal pallor of the optic discs, documented by retinal color photography, characteristic fluorescein angiographic feature of a dark choroid" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055555" "00420" "00075780" "01695" "Familial, autosomal recessive" "" "Stargardt disease; an ophtalmoscopically characteristic retinal disorder, bilateral central visual loss with both \"beaten metal\" elliptical foveal dystrophy and temporal pallor of the optic discs, documented by retinal color photography, characteristic fluorescein angiographic feature of a dark choroid" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055556" "00420" "00075781" "01695" "Familial, autosomal recessive" "" "Stargardt disease; an ophtalmoscopically characteristic retinal disorder, bilateral central visual loss with both \"beaten metal\" elliptical foveal dystrophy and temporal pallor of the optic discs, documented by retinal color photography, characteristic fluorescein angiographic feature of a dark choroid" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055557" "00420" "00075782" "01695" "Familial, autosomal recessive" "" "Stargardt disease; an ophtalmoscopically characteristic retinal disorder, bilateral central visual loss with both \"beaten metal\" elliptical foveal dystrophy and temporal pallor of the optic discs, documented by retinal color photography, characteristic fluorescein angiographic feature of a dark choroid" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055558" "00420" "00075783" "01695" "Familial, autosomal recessive" "" "Stargardt disease; an ophtalmoscopically characteristic retinal disorder, bilateral central visual loss with both \"beaten metal\" elliptical foveal dystrophy and temporal pallor of the optic discs, documented by retinal color photography, characteristic fluorescein angiographic feature of a dark choroid" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055559" "00420" "00075784" "01695" "Familial" "" "Stargardt disease; an ophtalmoscopically characteristic retinal disorder, bilateral central visual loss with both \"beaten metal\" elliptical foveal dystrophy and temporal pallor of the optic discs, documented by retinal color photography, characteristic fluorescein angiographic feature of a dark choroid" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055560" "00420" "00075785" "01695" "Familial, autosomal recessive" "" "Stargardt disease; an ophtalmoscopically characteristic retinal disorder, bilateral central visual loss with both \"beaten metal\" elliptical foveal dystrophy and temporal pallor of the optic discs, documented by retinal color photography, characteristic fluorescein angiographic feature of a dark choroid" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055561" "00420" "00075786" "01695" "Familial, autosomal recessive" "" "Stargardt disease; an ophtalmoscopically characteristic retinal disorder, bilateral central visual loss with both \"beaten metal\" elliptical foveal dystrophy and temporal pallor of the optic discs, documented by retinal color photography, characteristic fluorescein angiographic feature of a dark choroid" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055562" "00420" "00075787" "01695" "Familial, autosomal recessive" "" "Stargardt disease; an ophtalmoscopically characteristic retinal disorder, bilateral central visual loss with both \"beaten metal\" elliptical foveal dystrophy and temporal pallor of the optic discs, documented by retinal color photography, characteristic fluorescein angiographic feature of a dark choroid" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055563" "00420" "00075788" "01695" "Familial, autosomal recessive" "" "Stargardt disease; an ophtalmoscopically characteristic retinal disorder, bilateral central visual loss with both \"beaten metal\" elliptical foveal dystrophy and temporal pallor of the optic discs, documented by retinal color photography, characteristic fluorescein angiographic feature of a dark choroid" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055564" "00420" "00075789" "01695" "Familial, autosomal recessive" "" "Stargardt disease; an ophtalmoscopically characteristic retinal disorder, bilateral central visual loss with both \"beaten metal\" elliptical foveal dystrophy and temporal pallor of the optic discs, documented by retinal color photography, characteristic fluorescein angiographic feature of a dark choroid" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055565" "00420" "00075790" "01695" "Unknown" "" "Stargardt disease; an ophtalmoscopically characteristic retinal disorder, bilateral central visual loss with both \"beaten metal\" elliptical foveal dystrophy and temporal pallor of the optic discs, documented by retinal color photography, characteristic fluorescein angiographic feature of a dark choroid" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055566" "00420" "00075791" "01695" "Unknown" "" "Stargardt disease; an ophtalmoscopically characteristic retinal disorder, bilateral central visual loss with both \"beaten metal\" elliptical foveal dystrophy and temporal pallor of the optic discs, documented by retinal color photography, characteristic fluorescein angiographic feature of a dark choroid" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055567" "00420" "00075792" "01695" "Unknown" "" "Stargardt disease; an ophtalmoscopically characteristic retinal disorder, bilateral central visual loss with both \"beaten metal\" elliptical foveal dystrophy and temporal pallor of the optic discs, documented by retinal color photography, characteristic fluorescein angiographic feature of a dark choroid" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055568" "00058" "00075793" "01695" "Unknown" "" "cone-rod dystrophy (HP:0000510); initial symptoms of blurred central vision without a history of night blindness, impairment of color vision, and fundoscopic evidence of maculopathy without or with mild peripheral retinopathy, nonrecordable ERG, at 30 years of age: Pigment clumping in the macula, Large central scotoma over 40°, OD count fingers, OS count fingers" "6y" "" "unknown" "" "" "" "" "" "" "" ""
"0000055569" "00058" "00075794" "01695" "Unknown" "" "cone-rod dystrophy (HP:0000510); initial symptoms of blurred central vision without a history of night blindness, impairment of color vision, and fundoscopic evidence of maculopathy without or with mild peripheral retinopathy, photopic b-wave impairment was greater than or equal to the scotopic b-wave amplitude impairment, at 21 years of age: OD20/400, OS 20/400, Granular pigmentary changes in the macula, Diffusely disturbed color vision, Central scotoma of 20°" "7y" "" "unknown" "" "" "" "" "" "" "" ""
"0000055570" "00058" "00075795" "01695" "Unknown" "" "cone-rod dystrophy (HP:0000510); initial symptoms of blurred central vision without a history of night blindness, impairment of color vision, and fundoscopic evidence of maculopathy without or with mild peripheral retinopathy, photopic b-wave impairment was greater than or equal to the scotopic b-wave amplitude impairment, at 40 years of age: OD light perception, OS light perception, Irregular hypopigmentation, mainly in the posterior pole. In later stages: attenuated vessels and bone spicula temporal to the macula, Red-green defect in color visioin, Central scotoma varying from 10–30°" "8y" "" "unknown" "" "" "" "" "" "" "" ""
"0000055571" "00058" "00075796" "01695" "Unknown" "" "cone-rod dystrophy (HP:0000510); initial symptoms of blurred central vision without a history of night blindness, impairment of color vision, and fundoscopic evidence of maculopathy without or with mild peripheral retinopathy, photopic b-wave impairment was greater than or equal to the scotopic b-wave amplitude impairment, at 15 years of age: OD 20/200, OS 20/200, Granular aspect of the macula, Concentric central scotoma of 8°" "7y" "" "unknown" "" "" "" "" "" "" "" ""
"0000055572" "00058" "00075797" "01695" "Unknown" "" "cone-rod dystrophy (HP:0000510); initial symptoms of blurred central vision without a history of night blindness, impairment of color vision, and fundoscopic evidence of maculopathy without or with mild peripheral retinopathy, photopic b-wave impairment was greater than or equal to the scotopic b-wave amplitude impairment, at 38 years of age: OD 20/400, OS 20/400, Bull’s eye maculopathy, Red-green defect in color vision, Concentric central scotoma of 20°" "10y" "" "unknown" "" "" "" "" "" "" "" ""
"0000055573" "00058" "00075798" "01695" "Unknown" "" "cone-rod dystrophy (HP:0000510); initial symptoms of blurred central vision without a history of night blindness, impairment of color vision, and fundoscopic evidence of maculopathy without or with mild peripheral retinopathy, photopic b-wave impairment was greater than or equal to the scotopic b-wave amplitude impairment, at 50 years of age: OD count fingers, OS count fingers, Bull’s eye maculopathy, narrow vessels in periphery with mild granular changes of the pigment epithelium and confluent patches of chorioretinal atrophy, Severely disturbed color vision, Large, absolute, paracentral scotomas, relative scotoma centrally" "12y" "" "unknown" "" "" "" "" "" "" "" ""
"0000055574" "00058" "00075799" "01695" "Unknown" "" "cone-rod dystrophy (HP:0000510); initial symptoms of blurred central vision without a history of night blindness, impairment of color vision, and fundoscopic evidence of maculopathy without or with mild peripheral retinopathy, photopic b-wave impairment was greater than or equal to the scotopic b-wave amplitude impairment, at 45 years of age: OD 20/400, OS 20/400, Bull’s eye maculopathy. Peripheral diffuse motting of RPE, Severely disturbed color vision, Large central scotoma over 40°" "25y" "" "unknown" "" "" "" "" "" "" "" ""
"0000055575" "00058" "00075800" "01695" "Isolated (sporadic)" "" "cone-rod dystrophy (HP:0000510); initial symptoms of blurred central vision without a history of night blindness, impairment of color vision, and fundoscopic evidence of maculopathy without or with mild peripheral retinopathy, photopic b-wave impairment was greater than or equal to the scotopic b-wave amplitude impairment, at 22 years of age: OD 20/400, OS 20/200, Atrophy of retinal pigment epithelium in posterior pole. Early stages of bull’s eye maculopathy, Red-green defect in color vision, Central scotoma of 20°" "12y" "" "unknown" "" "" "" "" "" "" "" ""
"0000055576" "00058" "00075801" "01695" "Unknown" "" "cone-rod dystrophy (HP:0000510); initial symptoms of blurred central vision without a history of night blindness, impairment of color vision, and fundoscopic evidence of maculopathy without or with mild peripheral retinopathy, photopic b-wave impairment was greater than or equal to the scotopic b-wave amplitude impairment, at 20 years of age: OD 20/400, OS 20/400, Central granular aspect, Red-green defect in color vision, Large central scotoma of 30° and relative" "5y" "" "unknown" "" "" "" "" "" "" "" ""
"0000055577" "00058" "00075802" "01695" "Unknown" "" "cone-rod dystrophy (HP:0000510); initial symptoms of blurred central vision without a history of night blindness, impairment of color vision, and fundoscopic evidence of maculopathy without or with mild peripheral retinopathy, photopic b-wave impairment was greater than or equal to the scotopic b-wave amplitude impairment, at 30 years of age: OD 20/200, OS 20/200, Central hypopigmentation with dark surrounding, resembling bull’s eye. Later in life: peripheral changes characteristic of RP, Severe red-green defect; mild blue-yellow defect, Central scotoma of 10–15° with mild peripheral restriction" "8y" "" "unknown" "" "" "" "" "" "" "" ""
"0000055578" "00058" "00075803" "01695" "Unknown" "" "cone-rod dystrophy (HP:0000510); initial symptoms of blurred central vision without a history of night blindness, impairment of color vision, and fundoscopic evidence of maculopathy without or with mild peripheral retinopathy, photopic b-wave impairment was greater than or equal to the scotopic b-wave amplitude impairment, at 30 years of age: OD 20/200, OS 20/200, Bull’s eye pattern, Severely disturbed color vision; blue-yellow more than red-green, Central scotoma of 25°" "10y" "" "unknown" "" "" "" "" "" "" "" ""
"0000055579" "00058" "00075804" "01695" "Familial, autosomal recessive" "" "cone-rod dystrophy (HP:0000510); initial symptoms of blurred central vision without a history of night blindness, impairment of color vision, and fundoscopic evidence of maculopathy without or with mild peripheral retinopathy, nonrecordable ERG, OD 20/400, OS 20/200, Granular aspect of retinal pigment epithelium in macula. Slightly pale optic disc. Severely disturbed color vision. Central scotoma of 10–15,° no peripheral involvement." "15y" "" "unknown" "" "" "" "" "" "" "" ""
"0000055580" "00198" "00075805" "01695" "Unknown" "" "Stargardt disease or fundus flavimaculatus; OD 20/100, OS 20/100, affected color vision, small atrophic-appearing foveal lesion, localized perifoveal yellowish-white flecks" "" "" "decreased visual acuity" "" "" "" "" "" "" "" ""
"0000055581" "00198" "00075806" "01695" "Unknown" "" "Stargardt disease or fundus flavimaculatus; OD 20/40, OS 20/200, affected color vision, small atrophic-appearing foveal lesion, localized perifoveal yellowish-white flecks" "" "" "decreased visual acuity" "" "" "" "" "" "" "" ""
"0000055582" "00198" "00075807" "01695" "Unknown" "" "Stargardt disease or fundus flavimaculatus; OD 20/400, OS 20/400, affected color vision, numerous yellowish-white fundus lesions throughout posterior pole," "" "" "decreased visual acuity" "" "" "" "" "" "" "" ""
"0000055583" "04214" "00075808" "01695" "Familial, autosomal recessive" "" "retinitis pigmentosa; pigmentary retinal degeneration, reduced scotopic ERG, y28: OD 20/500, OS 20/500" "8y" "" "atrophic degeneration in the macula" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000055584" "04214" "00075809" "01695" "Familial, autosomal recessive" "" "retinitis pigmentosa; pigmentary retinal degeneration, reduced scotopic ERG, y23: OD 20/500, OS 20/500" "8y" "" "atrophic degeneration in the macula" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000055585" "04214" "00075810" "01695" "Familial, autosomal recessive" "" "retinitis pigmentosa; pigmentary retinal degeneration, reduced scotopic ERG, y28: OD 20/1000, OS 20/1000" "8y" "" "atrophic degeneration in the macula" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000055586" "00420" "00075811" "01695" "Familial, autosomal recessive" "" "Stargardt disease; age less than 30 years at first reported symptoms; bilateral central vision loss with a beaten-bronze appearance and/or the presence of orange-yellow flecks in the retina from the posterior pole to the midperiphery; typical dark choroid observed by fluorescein angiography, y12: OD 20/500, OS 20/500, dark choroid" "8y" "" "unknown" "" "" "" "" "" "" "" ""
"0000055587" "00420" "00075812" "01695" "Familial, autosomal recessive" "" "Stargardt disease; age less than 30 years at first reported symptoms; bilateral central vision loss with a beaten-bronze appearance and/or the presence of orange-yellow flecks in the retina from the posterior pole to the midperiphery; typical dark choroid observed by fluorescein angiography, y15: OD 20/250, OS 20/200, dark choroid" "8y" "" "unknown" "" "" "" "" "" "" "" ""
"0000055588" "00420" "00075813" "01695" "Familial, autosomal recessive" "" "Stargardt disease; age less than 30 years at first reported symptoms; bilateral central vision loss with a beaten-bronze appearance and/or the presence of orange-yellow flecks in the retina from the posterior pole to the midperiphery; typical dark choroid observed by fluorescein angiography, y17: OD 20/250, OS 20/500, dark choroid" "5y" "" "unknown" "" "" "" "" "" "" "" ""
"0000055589" "00420" "00075814" "01695" "Familial, autosomal recessive" "" "Stargardt disease; age less than 30 years at first reported symptoms; bilateral central vision loss with a beaten-bronze appearance and/or the presence of orange-yellow flecks in the retina from the posterior pole to the midperiphery; typical dark choroid observed by fluorescein angiography, y12: OD 20/250, OS 20/200, dark choroid" "6y" "" "unknown" "" "" "" "" "" "" "" ""
"0000055590" "04214" "00075815" "01695" "Familial, autosomal recessive" "" "retinitis pigmentosa; pigmentary retinal degeneration, reduced scotopic ERG, y46: OD hand motions, OS hand motions" "8y" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000055591" "04214" "00075816" "01695" "Familial, autosomal recessive" "" "retinitis pigmentosa; pigmentary retinal degeneration, reduced scotopic ERG, y41: OD hand motions, OS hand motions" "8y" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000055592" "00198" "00075817" "01695" "Unknown" "" "Pattern dystrophy-like Fundus flavimaculatus; pigment deposits resembling those of Pattern Dystrophy" "<19y" "" "unknown" "" "" "" "" "" "" "" ""
"0000055593" "00198" "00075818" "01695" "Unknown" "" "cone-rod dystrophy (HP:0000510) or retinitis pigmentosa; bad near vision and photophobia by the age of 18 and night blindness appeared later, fundus examination showed maculopathy with extensive atrophic-appearing changes of the retinal pigment epithelium, visual acuity was limited to perception with no projection of light at the exam time, absent cone and rod responses on the ERGs" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055594" "00420" "00075819" "01695" "Familial, autosomal recessive" "" "Stargardt disease; localized perifoveal yellowish white flecks, dark choroid, visual acuity was diminished" "<30y" "" "unknown" "" "" "" "" "" "" "" ""
"0000055595" "00420" "00075820" "01695" "Familial, autosomal recessive" "" "Stargardt disease; localized perifoveal yellowish white flecks, dark choroid, visual acuity was diminished" "<30y" "" "unknown" "" "" "" "" "" "" "" ""
"0000055596" "00198" "00075821" "01695" "Familial, autosomal recessive" "" "Fundus flavimaculatus; central atrophy showing a dark choroid and more diffused yellowish white flecks in the fundus, bad near vision and photophobia" "<11y" "" "unknown" "" "" "" "" "" "" "" ""
"0000055597" "00198" "00075822" "01695" "Familial, autosomal recessive" "" "Fundus flavimaculatus; central atrophy showing a dark choroid and more diffused yellowish white flecks in the fundus, bad near vision and photophobia" "<11y" "" "unknown" "" "" "" "" "" "" "" ""
"0000055598" "00420" "00075823" "01695" "Familial, autosomal recessive" "" "Stargardt disease; localized perifoveal yellowish white flecks, dark choroid, visual acuity was diminished" "<27y" "" "unknown" "" "" "" "" "" "" "" ""
"0000055599" "00420" "00075824" "01695" "Familial, autosomal recessive" "" "Stargardt disease; macular changes caused by excessive storage of lipofuscin within the RPE that prevented visualization of choroidal details,lesions were limited to the macula" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055600" "04214" "00075825" "01695" "Familial, autosomal recessive" "" "retinitis pigmentosa; progressive retinal degeneration accompanied of night blindness, constricted visual fields, pigment deposits in the outer retina and diminished or absent rod ERG" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000055601" "00058" "00075826" "01695" "Unknown" "" "cone-rod dystrophy (HP:0000510); initial cone dysfunction and subsequent progressive peripheral disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055602" "00058" "00075827" "01695" "Unknown" "" "cone-rod dystrophy (HP:0000510); initial cone dysfunction and subsequent progressive peripheral disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055603" "00058" "00075828" "01695" "Unknown" "" "cone-rod dystrophy (HP:0000510); initial cone dysfunction and subsequent progressive peripheral disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055604" "00058" "00075829" "01695" "Unknown" "" "cone-rod dystrophy (HP:0000510); initial cone dysfunction and subsequent progressive peripheral disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055605" "00058" "00075830" "01695" "Unknown" "" "cone-rod dystrophy (HP:0000510); initial cone dysfunction and subsequent progressive peripheral disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055606" "00058" "00075831" "01695" "Unknown" "" "cone-rod dystrophy (HP:0000510); initial cone dysfunction and subsequent progressive peripheral disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055607" "00058" "00075832" "01695" "Unknown" "" "cone-rod dystrophy (HP:0000510); initial cone dysfunction and subsequent progressive peripheral disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055608" "00058" "00075833" "01695" "Unknown" "" "cone-rod dystrophy (HP:0000510); initial cone dysfunction and subsequent progressive peripheral disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055609" "00058" "00075834" "01695" "Unknown" "" "cone-rod dystrophy (HP:0000510); initial cone dysfunction and subsequent progressive peripheral disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055610" "00058" "00075835" "01695" "Unknown" "" "cone-rod dystrophy (HP:0000510); initial cone dysfunction and subsequent progressive peripheral disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055611" "00058" "00075836" "01695" "Unknown" "" "cone-rod dystrophy (HP:0000510); initial cone dysfunction and subsequent progressive peripheral disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055612" "00058" "00075837" "01695" "Unknown" "" "cone-rod dystrophy (HP:0000510); initial cone dysfunction and subsequent progressive peripheral disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055613" "00058" "00075838" "01695" "Unknown" "" "cone-rod dystrophy (HP:0000510); initial cone dysfunction and subsequent progressive peripheral disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055614" "00420" "00075839" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055615" "00420" "00075840" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055616" "00420" "00075841" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055617" "00420" "00075842" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055618" "00420" "00075843" "01695" "Unknown" "" "Stargardt disease; central visual impairment, a characteristic retinal appearance, and a dark choroid on the fluorescein angiography" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055619" "00058" "00075844" "01695" "Unknown" "" "cone-rod dystrophy (HP:0000510); central vision impairment and visual field changes, including central scotomas and peripheral field loss, light-adapted (cone) b-wave amplitudes were either more reduced than dark-adapted (maximal and rod-isolated) responses or both the light- and dark-adapted amplitude responses were similarly reduced, central and peripheral visual field loss" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055620" "00058" "00075845" "01695" "Unknown" "" "cone-rod dystrophy (HP:0000510); central vision impairment and visual field changes, including central scotomas and peripheral field loss, light-adapted (cone) b-wave amplitudes were either more reduced than dark-adapted (maximal and rod-isolated) responses or both the light- and dark-adapted amplitude responses were similarly reduced, central and peripheral visual field loss" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055621" "00058" "00075846" "01695" "Unknown" "" "cone-rod dystrophy (HP:0000510); central vision impairment and visual field changes, including central scotomas and peripheral field loss, light-adapted (cone) b-wave amplitudes were either more reduced than dark-adapted (maximal and rod-isolated) responses or both the light- and dark-adapted amplitude responses were similarly reduced, central and peripheral visual field loss" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055622" "00058" "00075847" "01695" "Unknown" "" "cone-rod dystrophy (HP:0000510); central vision impairment and visual field changes, including central scotomas and peripheral field loss, light-adapted (cone) b-wave amplitudes were either more reduced than dark-adapted (maximal and rod-isolated) responses or both the light- and dark-adapted amplitude responses were similarly reduced, central scotoma" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055623" "00058" "00075848" "01695" "Unknown" "" "cone-rod dystrophy (HP:0000510); central vision impairment and visual field changes, including central scotomas and peripheral field loss, light-adapted (cone) b-wave amplitudes were either more reduced than dark-adapted (maximal and rod-isolated) responses or both the light- and dark-adapted amplitude responses were similarly reduced, central scotoma" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055624" "00058" "00075849" "01695" "Unknown" "" "cone-rod dystrophy (HP:0000510); central vision impairment and visual field changes, including central scotomas and peripheral field loss, light-adapted (cone) b-wave amplitudes were either more reduced than dark-adapted (maximal and rod-isolated) responses or both the light- and dark-adapted amplitude responses were similarly reduced, central and peripheral visual field loss" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055625" "00058" "00075850" "01695" "Unknown" "" "cone-rod dystrophy (HP:0000510); central vision impairment and visual field changes, including central scotomas and peripheral field loss, light-adapted (cone) b-wave amplitudes were either more reduced than dark-adapted (maximal and rod-isolated) responses or both the light- and dark-adapted amplitude responses were similarly reduced, central and peripheral visual field loss" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055626" "00058" "00075851" "01695" "Unknown" "" "cone-rod dystrophy (HP:0000510); central vision impairment and visual field changes, including central scotomas and peripheral field loss, light-adapted (cone) b-wave amplitudes were either more reduced than dark-adapted (maximal and rod-isolated) responses or both the light- and dark-adapted amplitude responses were similarly reduced, central and peripheral visual field loss" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055627" "00058" "00075852" "01695" "Unknown" "" "cone-rod dystrophy (HP:0000510); central vision impairment and visual field changes, including central scotomas and peripheral field loss, light-adapted (cone) b-wave amplitudes were either more reduced than dark-adapted (maximal and rod-isolated) responses or both the light- and dark-adapted amplitude responses were similarly reduced, central and peripheral visual field loss" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055628" "00058" "00075853" "01695" "Unknown" "" "cone-rod dystrophy (HP:0000510); central vision impairment and visual field changes, including central scotomas and peripheral field loss, light-adapted (cone) b-wave amplitudes were either more reduced than dark-adapted (maximal and rod-isolated) responses or both the light- and dark-adapted amplitude responses were similarly reduced, central scotoma" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055629" "00058" "00075854" "01695" "Unknown" "" "cone-rod dystrophy (HP:0000510); central vision impairment and visual field changes, including central scotomas and peripheral field loss, light-adapted (cone) b-wave amplitudes were either more reduced than dark-adapted (maximal and rod-isolated) responses or both the light- and dark-adapted amplitude responses were similarly reduced, central and peripheral visual field loss" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055630" "00058" "00075855" "01695" "Unknown" "" "cone-rod dystrophy (HP:0000510); central vision impairment and visual field changes, including central scotomas and peripheral field loss, light-adapted (cone) b-wave amplitudes were either more reduced than dark-adapted (maximal and rod-isolated) responses or both the light- and dark-adapted amplitude responses were similarly reduced, central scotoma" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055631" "00058" "00075856" "01695" "Unknown" "" "cone-rod dystrophy (HP:0000510); central vision impairment and visual field changes, including central scotomas and peripheral field loss, light-adapted (cone) b-wave amplitudes were either more reduced than dark-adapted (maximal and rod-isolated) responses or both the light- and dark-adapted amplitude responses were similarly reduced, central and peripheral visual field loss" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055632" "00058" "00075857" "01695" "Unknown" "" "cone-rod dystrophy (HP:0000510); central vision impairment and visual field changes, including central scotomas and peripheral field loss, light-adapted (cone) b-wave amplitudes were either more reduced than dark-adapted (maximal and rod-isolated) responses or both the light- and dark-adapted amplitude responses were similarly reduced, central scotoma" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055633" "00058" "00075858" "01695" "Unknown" "" "cone-rod dystrophy (HP:0000510); central vision impairment and visual field changes, including central scotomas and peripheral field loss, light-adapted (cone) b-wave amplitudes were either more reduced than dark-adapted (maximal and rod-isolated) responses or both the light- and dark-adapted amplitude responses were similarly reduced, central and peripheral visual field loss" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055634" "00058" "00075859" "01695" "Unknown" "" "cone-rod dystrophy (HP:0000510); central vision impairment and visual field changes, including central scotomas and peripheral field loss, light-adapted (cone) b-wave amplitudes were either more reduced than dark-adapted (maximal and rod-isolated) responses or both the light- and dark-adapted amplitude responses were similarly reduced, central scotoma" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055635" "00198" "00075860" "01695" "Unknown" "" "Stargardt disease or fundus flavimaculatus; retinal disorder in a family with more than one affected individual and compatible with autosomal recessive inheritance, onset of symptoms in childhood or early adulthood, bilateral central vision loss with ‘‘beaten metal’’ foveal changes and/or yellow-white ‘‘fish-tail’’ flecks scattered through the posterior pole and peripheral retina (FFM), dark choroid in fluorescein angiography (in some but not all cases)." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055636" "00198" "00075861" "01695" "Unknown" "" "Stargardt disease or fundus flavimaculatus; retinal disorder in a family with more than one affected individual and compatible with autosomal recessive inheritance, onset of symptoms in childhood or early adulthood, bilateral central vision loss with ‘‘beaten metal’’ foveal changes and/or yellow-white ‘‘fish-tail’’ flecks scattered through the posterior pole and peripheral retina (FFM), dark choroid in fluorescein angiography (in some but not all cases)." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055637" "00198" "00075862" "01695" "Unknown" "" "Stargardt disease or fundus flavimaculatus; retinal disorder in a family with more than one affected individual and compatible with autosomal recessive inheritance, onset of symptoms in childhood or early adulthood, bilateral central vision loss with ‘‘beaten metal’’ foveal changes and/or yellow-white ‘‘fish-tail’’ flecks scattered through the posterior pole and peripheral retina (FFM), dark choroid in fluorescein angiography (in some but not all cases)." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055638" "00198" "00075863" "01695" "Unknown" "" "Stargardt disease or fundus flavimaculatus; retinal disorder in a family with more than one affected individual and compatible with autosomal recessive inheritance, onset of symptoms in childhood or early adulthood, bilateral central vision loss with ‘‘beaten metal’’ foveal changes and/or yellow-white ‘‘fish-tail’’ flecks scattered through the posterior pole and peripheral retina (FFM), dark choroid in fluorescein angiography (in some but not all cases)." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055639" "00198" "00075864" "01695" "Unknown" "" "Stargardt disease or fundus flavimaculatus; retinal disorder in a family with more than one affected individual and compatible with autosomal recessive inheritance, onset of symptoms in childhood or early adulthood, bilateral central vision loss with ‘‘beaten metal’’ foveal changes and/or yellow-white ‘‘fish-tail’’ flecks scattered through the posterior pole and peripheral retina (FFM), dark choroid in fluorescein angiography (in some but not all cases)." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055640" "00198" "00075865" "01695" "Unknown" "" "Stargardt disease or fundus flavimaculatus; retinal disorder in a family with more than one affected individual and compatible with autosomal recessive inheritance, onset of symptoms in childhood or early adulthood, bilateral central vision loss with ‘‘beaten metal’’ foveal changes and/or yellow-white ‘‘fish-tail’’ flecks scattered through the posterior pole and peripheral retina (FFM), dark choroid in fluorescein angiography (in some but not all cases)." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055641" "00198" "00075866" "01695" "Unknown" "" "Stargardt disease or fundus flavimaculatus; retinal disorder in a family with more than one affected individual and compatible with autosomal recessive inheritance, onset of symptoms in childhood or early adulthood, bilateral central vision loss with ‘‘beaten metal’’ foveal changes and/or yellow-white ‘‘fish-tail’’ flecks scattered through the posterior pole and peripheral retina (FFM), dark choroid in fluorescein angiography (in some but not all cases)." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055642" "00198" "00075867" "01695" "Unknown" "" "Stargardt disease or fundus flavimaculatus; retinal disorder in a family with more than one affected individual and compatible with autosomal recessive inheritance, onset of symptoms in childhood or early adulthood, bilateral central vision loss with ‘‘beaten metal’’ foveal changes and/or yellow-white ‘‘fish-tail’’ flecks scattered through the posterior pole and peripheral retina (FFM), dark choroid in fluorescein angiography (in some but not all cases)." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055643" "00198" "00075868" "01695" "Unknown" "" "Stargardt disease or fundus flavimaculatus; retinal disorder in a family with more than one affected individual and compatible with autosomal recessive inheritance, onset of symptoms in childhood or early adulthood, bilateral central vision loss with ‘‘beaten metal’’ foveal changes and/or yellow-white ‘‘fish-tail’’ flecks scattered through the posterior pole and peripheral retina (FFM), dark choroid in fluorescein angiography (in some but not all cases)." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055644" "00198" "00075869" "01695" "Unknown" "" "Stargardt disease or fundus flavimaculatus; retinal disorder in a family with more than one affected individual and compatible with autosomal recessive inheritance, onset of symptoms in childhood or early adulthood, bilateral central vision loss with ‘‘beaten metal’’ foveal changes and/or yellow-white ‘‘fish-tail’’ flecks scattered through the posterior pole and peripheral retina (FFM), dark choroid in fluorescein angiography (in some but not all cases)." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055645" "00198" "00075870" "01695" "Unknown" "" "Stargardt disease or fundus flavimaculatus; retinal disorder in a family with more than one affected individual and compatible with autosomal recessive inheritance, onset of symptoms in childhood or early adulthood, bilateral central vision loss with ‘‘beaten metal’’ foveal changes and/or yellow-white ‘‘fish-tail’’ flecks scattered through the posterior pole and peripheral retina (FFM), dark choroid in fluorescein angiography (in some but not all cases)." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055646" "00198" "00075871" "01695" "Unknown" "" "Stargardt disease or fundus flavimaculatus; retinal disorder in a family with more than one affected individual and compatible with autosomal recessive inheritance, onset of symptoms in childhood or early adulthood, bilateral central vision loss with ‘‘beaten metal’’ foveal changes and/or yellow-white ‘‘fish-tail’’ flecks scattered through the posterior pole and peripheral retina (FFM), dark choroid in fluorescein angiography (in some but not all cases)." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055647" "00198" "00075872" "01695" "Unknown" "" "Stargardt disease or fundus flavimaculatus; retinal disorder in a family with more than one affected individual and compatible with autosomal recessive inheritance, onset of symptoms in childhood or early adulthood, bilateral central vision loss with ‘‘beaten metal’’ foveal changes and/or yellow-white ‘‘fish-tail’’ flecks scattered through the posterior pole and peripheral retina (FFM), dark choroid in fluorescein angiography (in some but not all cases)." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055648" "00198" "00075873" "01695" "Unknown" "" "Stargardt disease or fundus flavimaculatus; retinal disorder in a family with more than one affected individual and compatible with autosomal recessive inheritance, onset of symptoms in childhood or early adulthood, bilateral central vision loss with ‘‘beaten metal’’ foveal changes and/or yellow-white ‘‘fish-tail’’ flecks scattered through the posterior pole and peripheral retina (FFM), dark choroid in fluorescein angiography (in some but not all cases)." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055649" "00198" "00075874" "01695" "Unknown" "" "Stargardt disease or fundus flavimaculatus; retinal disorder in a family with more than one affected individual and compatible with autosomal recessive inheritance, onset of symptoms in childhood or early adulthood, bilateral central vision loss with ‘‘beaten metal’’ foveal changes and/or yellow-white ‘‘fish-tail’’ flecks scattered through the posterior pole and peripheral retina (FFM), dark choroid in fluorescein angiography (in some but not all cases)." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055650" "00198" "00075875" "01695" "Unknown" "" "Stargardt disease or fundus flavimaculatus; retinal disorder in a family with more than one affected individual and compatible with autosomal recessive inheritance, onset of symptoms in childhood or early adulthood, bilateral central vision loss with ‘‘beaten metal’’ foveal changes and/or yellow-white ‘‘fish-tail’’ flecks scattered through the posterior pole and peripheral retina (FFM), dark choroid in fluorescein angiography (in some but not all cases)." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055651" "00198" "00075876" "01695" "Unknown" "" "Stargardt disease or fundus flavimaculatus; retinal disorder in a family with more than one affected individual and compatible with autosomal recessive inheritance, onset of symptoms in childhood or early adulthood, bilateral central vision loss with ‘‘beaten metal’’ foveal changes and/or yellow-white ‘‘fish-tail’’ flecks scattered through the posterior pole and peripheral retina (FFM), dark choroid in fluorescein angiography (in some but not all cases)." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055652" "00198" "00075877" "01695" "Unknown" "" "Stargardt disease or fundus flavimaculatus; retinal disorder in a family with more than one affected individual and compatible with autosomal recessive inheritance, onset of symptoms in childhood or early adulthood, bilateral central vision loss with ‘‘beaten metal’’ foveal changes and/or yellow-white ‘‘fish-tail’’ flecks scattered through the posterior pole and peripheral retina (FFM), dark choroid in fluorescein angiography (in some but not all cases)." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055653" "00198" "00075878" "01695" "Unknown" "" "Stargardt disease or fundus flavimaculatus; retinal disorder in a family with more than one affected individual and compatible with autosomal recessive inheritance, onset of symptoms in childhood or early adulthood, bilateral central vision loss with ‘‘beaten metal’’ foveal changes and/or yellow-white ‘‘fish-tail’’ flecks scattered through the posterior pole and peripheral retina (FFM), dark choroid in fluorescein angiography (in some but not all cases)." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055654" "00198" "00075879" "01695" "Unknown" "" "Stargardt disease or fundus flavimaculatus; retinal disorder in a family with more than one affected individual and compatible with autosomal recessive inheritance, onset of symptoms in childhood or early adulthood, bilateral central vision loss with ‘‘beaten metal’’ foveal changes and/or yellow-white ‘‘fish-tail’’ flecks scattered through the posterior pole and peripheral retina (FFM), dark choroid in fluorescein angiography (in some but not all cases)." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055655" "00198" "00075880" "01695" "Unknown" "" "Stargardt disease or fundus flavimaculatus; retinal disorder in a family with more than one affected individual and compatible with autosomal recessive inheritance, onset of symptoms in childhood or early adulthood, bilateral central vision loss with ‘‘beaten metal’’ foveal changes and/or yellow-white ‘‘fish-tail’’ flecks scattered through the posterior pole and peripheral retina (FFM), dark choroid in fluorescein angiography (in some but not all cases)." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055656" "00198" "00075881" "01695" "Unknown" "" "Stargardt disease or fundus flavimaculatus; retinal disorder in a family with more than one affected individual and compatible with autosomal recessive inheritance, onset of symptoms in childhood or early adulthood, bilateral central vision loss with ‘‘beaten metal’’ foveal changes and/or yellow-white ‘‘fish-tail’’ flecks scattered through the posterior pole and peripheral retina (FFM), dark choroid in fluorescein angiography (in some but not all cases)." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055657" "00198" "00075882" "01695" "Unknown" "" "Stargardt disease or fundus flavimaculatus; retinal disorder in a family with more than one affected individual and compatible with autosomal recessive inheritance, onset of symptoms in childhood or early adulthood, bilateral central vision loss with ‘‘beaten metal’’ foveal changes and/or yellow-white ‘‘fish-tail’’ flecks scattered through the posterior pole and peripheral retina (FFM), dark choroid in fluorescein angiography (in some but not all cases)." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055658" "00198" "00075883" "01695" "Unknown" "" "Stargardt disease or fundus flavimaculatus; retinal disorder in a family with more than one affected individual and compatible with autosomal recessive inheritance, onset of symptoms in childhood or early adulthood, bilateral central vision loss with ‘‘beaten metal’’ foveal changes and/or yellow-white ‘‘fish-tail’’ flecks scattered through the posterior pole and peripheral retina (FFM), dark choroid in fluorescein angiography (in some but not all cases)." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055659" "00198" "00075884" "01695" "Unknown" "" "Stargardt disease or fundus flavimaculatus; retinal disorder in a family with more than one affected individual and compatible with autosomal recessive inheritance, onset of symptoms in childhood or early adulthood, bilateral central vision loss with ‘‘beaten metal’’ foveal changes and/or yellow-white ‘‘fish-tail’’ flecks scattered through the posterior pole and peripheral retina (FFM), dark choroid in fluorescein angiography (in some but not all cases)." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055660" "00198" "00075885" "01695" "Unknown" "" "Stargardt disease or fundus flavimaculatus; retinal disorder in a family with more than one affected individual and compatible with autosomal recessive inheritance, onset of symptoms in childhood or early adulthood, bilateral central vision loss with ‘‘beaten metal’’ foveal changes and/or yellow-white ‘‘fish-tail’’ flecks scattered through the posterior pole and peripheral retina (FFM), dark choroid in fluorescein angiography (in some but not all cases)." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055661" "00198" "00075886" "01695" "Unknown" "" "Stargardt disease or fundus flavimaculatus; retinal disorder in a family with more than one affected individual and compatible with autosomal recessive inheritance, onset of symptoms in childhood or early adulthood, bilateral central vision loss with ‘‘beaten metal’’ foveal changes and/or yellow-white ‘‘fish-tail’’ flecks scattered through the posterior pole and peripheral retina (FFM), dark choroid in fluorescein angiography (in some but not all cases)." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055662" "00198" "00075887" "01695" "Unknown" "" "Stargardt disease or fundus flavimaculatus; retinal disorder in a family with more than one affected individual and compatible with autosomal recessive inheritance, onset of symptoms in childhood or early adulthood, bilateral central vision loss with ‘‘beaten metal’’ foveal changes and/or yellow-white ‘‘fish-tail’’ flecks scattered through the posterior pole and peripheral retina (FFM), dark choroid in fluorescein angiography (in some but not all cases)." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055663" "00198" "00075888" "01695" "Unknown" "" "Stargardt disease or fundus flavimaculatus; retinal disorder in a family with more than one affected individual and compatible with autosomal recessive inheritance, onset of symptoms in childhood or early adulthood, bilateral central vision loss with ‘‘beaten metal’’ foveal changes and/or yellow-white ‘‘fish-tail’’ flecks scattered through the posterior pole and peripheral retina (FFM), dark choroid in fluorescein angiography (in some but not all cases)." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055664" "00198" "00075889" "01695" "Unknown" "" "Stargardt disease or fundus flavimaculatus; retinal disorder in a family with more than one affected individual and compatible with autosomal recessive inheritance, onset of symptoms in childhood or early adulthood, bilateral central vision loss with ‘‘beaten metal’’ foveal changes and/or yellow-white ‘‘fish-tail’’ flecks scattered through the posterior pole and peripheral retina (FFM), dark choroid in fluorescein angiography (in some but not all cases)." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055665" "00198" "00075890" "01695" "Unknown" "" "Stargardt disease or fundus flavimaculatus; retinal disorder in a family with more than one affected individual and compatible with autosomal recessive inheritance, onset of symptoms in childhood or early adulthood, bilateral central vision loss with ‘‘beaten metal’’ foveal changes and/or yellow-white ‘‘fish-tail’’ flecks scattered through the posterior pole and peripheral retina (FFM), dark choroid in fluorescein angiography (in some but not all cases)." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055666" "00198" "00075891" "01695" "Unknown" "" "Stargardt disease or fundus flavimaculatus; retinal disorder in a family with more than one affected individual and compatible with autosomal recessive inheritance, onset of symptoms in childhood or early adulthood, bilateral central vision loss with ‘‘beaten metal’’ foveal changes and/or yellow-white ‘‘fish-tail’’ flecks scattered through the posterior pole and peripheral retina (FFM), dark choroid in fluorescein angiography (in some but not all cases)." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055667" "00198" "00075892" "01695" "Unknown" "" "Stargardt disease or fundus flavimaculatus; retinal disorder in a family with more than one affected individual and compatible with autosomal recessive inheritance, onset of symptoms in childhood or early adulthood, bilateral central vision loss with ‘‘beaten metal’’ foveal changes and/or yellow-white ‘‘fish-tail’’ flecks scattered through the posterior pole and peripheral retina (FFM), dark choroid in fluorescein angiography (in some but not all cases)." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055668" "00198" "00075893" "01695" "Unknown" "" "Stargardt disease or fundus flavimaculatus; retinal disorder in a family with more than one affected individual and compatible with autosomal recessive inheritance, onset of symptoms in childhood or early adulthood, bilateral central vision loss with ‘‘beaten metal’’ foveal changes and/or yellow-white ‘‘fish-tail’’ flecks scattered through the posterior pole and peripheral retina (FFM), dark choroid in fluorescein angiography (in some but not all cases)." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055669" "00198" "00075894" "01695" "Unknown" "" "Stargardt disease or fundus flavimaculatus; retinal disorder in a family with more than one affected individual and compatible with autosomal recessive inheritance, onset of symptoms in childhood or early adulthood, bilateral central vision loss with ‘‘beaten metal’’ foveal changes and/or yellow-white ‘‘fish-tail’’ flecks scattered through the posterior pole and peripheral retina (FFM), dark choroid in fluorescein angiography (in some but not all cases)." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055670" "00198" "00075895" "01695" "Unknown" "" "Stargardt disease or fundus flavimaculatus; retinal disorder in a family with more than one affected individual and compatible with autosomal recessive inheritance, onset of symptoms in childhood or early adulthood, bilateral central vision loss with ‘‘beaten metal’’ foveal changes and/or yellow-white ‘‘fish-tail’’ flecks scattered through the posterior pole and peripheral retina (FFM), dark choroid in fluorescein angiography (in some but not all cases)." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055671" "00198" "00075896" "01695" "Unknown" "" "Stargardt disease or fundus flavimaculatus; retinal disorder in a family with more than one affected individual and compatible with autosomal recessive inheritance, onset of symptoms in childhood or early adulthood, bilateral central vision loss with ‘‘beaten metal’’ foveal changes and/or yellow-white ‘‘fish-tail’’ flecks scattered through the posterior pole and peripheral retina (FFM), dark choroid in fluorescein angiography (in some but not all cases)." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055672" "00198" "00075897" "01695" "Unknown" "" "Stargardt disease or fundus flavimaculatus; retinal disorder in a family with more than one affected individual and compatible with autosomal recessive inheritance, onset of symptoms in childhood or early adulthood, bilateral central vision loss with ‘‘beaten metal’’ foveal changes and/or yellow-white ‘‘fish-tail’’ flecks scattered through the posterior pole and peripheral retina (FFM), dark choroid in fluorescein angiography (in some but not all cases)." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055673" "00198" "00075898" "01695" "Unknown" "" "Stargardt disease or fundus flavimaculatus; retinal disorder in a family with more than one affected individual and compatible with autosomal recessive inheritance, onset of symptoms in childhood or early adulthood, bilateral central vision loss with ‘‘beaten metal’’ foveal changes and/or yellow-white ‘‘fish-tail’’ flecks scattered through the posterior pole and peripheral retina (FFM), dark choroid in fluorescein angiography (in some but not all cases)." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055674" "00198" "00075899" "01695" "Unknown" "" "Stargardt disease or fundus flavimaculatus; retinal disorder in a family with more than one affected individual and compatible with autosomal recessive inheritance, onset of symptoms in childhood or early adulthood, bilateral central vision loss with ‘‘beaten metal’’ foveal changes and/or yellow-white ‘‘fish-tail’’ flecks scattered through the posterior pole and peripheral retina (FFM), dark choroid in fluorescein angiography (in some but not all cases)." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055675" "00198" "00075900" "01695" "Unknown" "" "Stargardt disease or fundus flavimaculatus; retinal disorder in a family with more than one affected individual and compatible with autosomal recessive inheritance, onset of symptoms in childhood or early adulthood, bilateral central vision loss with ‘‘beaten metal’’ foveal changes and/or yellow-white ‘‘fish-tail’’ flecks scattered through the posterior pole and peripheral retina (FFM), dark choroid in fluorescein angiography (in some but not all cases)." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055676" "00198" "00075901" "01695" "Unknown" "" "Stargardt disease or fundus flavimaculatus; retinal disorder in a family with more than one affected individual and compatible with autosomal recessive inheritance, onset of symptoms in childhood or early adulthood, bilateral central vision loss with ‘‘beaten metal’’ foveal changes and/or yellow-white ‘‘fish-tail’’ flecks scattered through the posterior pole and peripheral retina (FFM), dark choroid in fluorescein angiography (in some but not all cases)." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055677" "00198" "00075902" "01695" "Unknown" "" "Stargardt disease or fundus flavimaculatus; retinal disorder in a family with more than one affected individual and compatible with autosomal recessive inheritance, onset of symptoms in childhood or early adulthood, bilateral central vision loss with ‘‘beaten metal’’ foveal changes and/or yellow-white ‘‘fish-tail’’ flecks scattered through the posterior pole and peripheral retina (FFM), dark choroid in fluorescein angiography (in some but not all cases)." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055678" "00198" "00075903" "01695" "Unknown" "" "Stargardt disease or fundus flavimaculatus; retinal disorder in a family with more than one affected individual and compatible with autosomal recessive inheritance, onset of symptoms in childhood or early adulthood, bilateral central vision loss with ‘‘beaten metal’’ foveal changes and/or yellow-white ‘‘fish-tail’’ flecks scattered through the posterior pole and peripheral retina (FFM), dark choroid in fluorescein angiography (in some but not all cases)." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055679" "00198" "00075904" "01695" "Unknown" "" "Stargardt disease or fundus flavimaculatus; retinal disorder in a family with more than one affected individual and compatible with autosomal recessive inheritance, onset of symptoms in childhood or early adulthood, bilateral central vision loss with ‘‘beaten metal’’ foveal changes and/or yellow-white ‘‘fish-tail’’ flecks scattered through the posterior pole and peripheral retina (FFM), dark choroid in fluorescein angiography (in some but not all cases)." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055680" "00198" "00075905" "01695" "Unknown" "" "Stargardt disease or fundus flavimaculatus; retinal disorder in a family with more than one affected individual and compatible with autosomal recessive inheritance, onset of symptoms in childhood or early adulthood, bilateral central vision loss with ‘‘beaten metal’’ foveal changes and/or yellow-white ‘‘fish-tail’’ flecks scattered through the posterior pole and peripheral retina (FFM), dark choroid in fluorescein angiography (in some but not all cases)." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055681" "00198" "00075906" "01695" "Unknown" "" "Stargardt disease or fundus flavimaculatus; retinal disorder in a family with more than one affected individual and compatible with autosomal recessive inheritance, onset of symptoms in childhood or early adulthood, bilateral central vision loss with ‘‘beaten metal’’ foveal changes and/or yellow-white ‘‘fish-tail’’ flecks scattered through the posterior pole and peripheral retina (FFM), dark choroid in fluorescein angiography (in some but not all cases)." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055682" "00198" "00075907" "01695" "Unknown" "" "Stargardt disease or fundus flavimaculatus; retinal disorder in a family with more than one affected individual and compatible with autosomal recessive inheritance, onset of symptoms in childhood or early adulthood, bilateral central vision loss with ‘‘beaten metal’’ foveal changes and/or yellow-white ‘‘fish-tail’’ flecks scattered through the posterior pole and peripheral retina (FFM), dark choroid in fluorescein angiography (in some but not all cases)." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055683" "00198" "00075908" "01695" "Unknown" "" "Stargardt disease or fundus flavimaculatus; retinal disorder in a family with more than one affected individual and compatible with autosomal recessive inheritance, onset of symptoms in childhood or early adulthood, bilateral central vision loss with ‘‘beaten metal’’ foveal changes and/or yellow-white ‘‘fish-tail’’ flecks scattered through the posterior pole and peripheral retina (FFM), dark choroid in fluorescein angiography (in some but not all cases)." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055684" "00198" "00075909" "01695" "Unknown" "" "Stargardt disease or fundus flavimaculatus; retinal disorder in a family with more than one affected individual and compatible with autosomal recessive inheritance, onset of symptoms in childhood or early adulthood, bilateral central vision loss with ‘‘beaten metal’’ foveal changes and/or yellow-white ‘‘fish-tail’’ flecks scattered through the posterior pole and peripheral retina (FFM), dark choroid in fluorescein angiography (in some but not all cases)." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055685" "00198" "00075910" "01695" "Unknown" "" "Stargardt disease or fundus flavimaculatus; retinal disorder in a family with more than one affected individual and compatible with autosomal recessive inheritance, onset of symptoms in childhood or early adulthood, bilateral central vision loss with ‘‘beaten metal’’ foveal changes and/or yellow-white ‘‘fish-tail’’ flecks scattered through the posterior pole and peripheral retina (FFM), dark choroid in fluorescein angiography (in some but not all cases)." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055686" "00198" "00075911" "01695" "Unknown" "" "Stargardt disease or fundus flavimaculatus; retinal disorder in a family with more than one affected individual and compatible with autosomal recessive inheritance, onset of symptoms in childhood or early adulthood, bilateral central vision loss with ‘‘beaten metal’’ foveal changes and/or yellow-white ‘‘fish-tail’’ flecks scattered through the posterior pole and peripheral retina (FFM), dark choroid in fluorescein angiography (in some but not all cases)." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055687" "00198" "00075912" "01695" "Unknown" "" "Stargardt disease or fundus flavimaculatus; retinal disorder in a family with more than one affected individual and compatible with autosomal recessive inheritance, onset of symptoms in childhood or early adulthood, bilateral central vision loss with ‘‘beaten metal’’ foveal changes and/or yellow-white ‘‘fish-tail’’ flecks scattered through the posterior pole and peripheral retina (FFM), dark choroid in fluorescein angiography (in some but not all cases)." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055688" "00198" "00075913" "01695" "Unknown" "" "Stargardt disease or fundus flavimaculatus; retinal disorder in a family with more than one affected individual and compatible with autosomal recessive inheritance, onset of symptoms in childhood or early adulthood, bilateral central vision loss with ‘‘beaten metal’’ foveal changes and/or yellow-white ‘‘fish-tail’’ flecks scattered through the posterior pole and peripheral retina (FFM), dark choroid in fluorescein angiography (in some but not all cases)." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055689" "00198" "00075914" "01695" "Unknown" "" "Stargardt disease or fundus flavimaculatus; retinal disorder in a family with more than one affected individual and compatible with autosomal recessive inheritance, onset of symptoms in childhood or early adulthood, bilateral central vision loss with ‘‘beaten metal’’ foveal changes and/or yellow-white ‘‘fish-tail’’ flecks scattered through the posterior pole and peripheral retina (FFM), dark choroid in fluorescein angiography (in some but not all cases)." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055690" "00198" "00075915" "01695" "Unknown" "" "Stargardt disease or fundus flavimaculatus; retinal disorder in a family with more than one affected individual and compatible with autosomal recessive inheritance, onset of symptoms in childhood or early adulthood, bilateral central vision loss with ‘‘beaten metal’’ foveal changes and/or yellow-white ‘‘fish-tail’’ flecks scattered through the posterior pole and peripheral retina (FFM), dark choroid in fluorescein angiography (in some but not all cases)." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055691" "00198" "00075916" "01695" "Unknown" "" "Stargardt disease or fundus flavimaculatus; retinal disorder in a family with more than one affected individual and compatible with autosomal recessive inheritance, onset of symptoms in childhood or early adulthood, bilateral central vision loss with ‘‘beaten metal’’ foveal changes and/or yellow-white ‘‘fish-tail’’ flecks scattered through the posterior pole and peripheral retina (FFM), dark choroid in fluorescein angiography (in some but not all cases)." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055692" "00198" "00075917" "01695" "Unknown" "" "Stargardt disease or fundus flavimaculatus; retinal disorder in a family with more than one affected individual and compatible with autosomal recessive inheritance, onset of symptoms in childhood or early adulthood, bilateral central vision loss with ‘‘beaten metal’’ foveal changes and/or yellow-white ‘‘fish-tail’’ flecks scattered through the posterior pole and peripheral retina (FFM), dark choroid in fluorescein angiography (in some but not all cases)." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055693" "00198" "00075918" "01695" "Unknown" "" "Stargardt disease or fundus flavimaculatus; retinal disorder in a family with more than one affected individual and compatible with autosomal recessive inheritance, onset of symptoms in childhood or early adulthood, bilateral central vision loss with ‘‘beaten metal’’ foveal changes and/or yellow-white ‘‘fish-tail’’ flecks scattered through the posterior pole and peripheral retina (FFM), dark choroid in fluorescein angiography (in some but not all cases)." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055694" "00198" "00075919" "01695" "Unknown" "" "Stargardt disease or fundus flavimaculatus; retinal disorder in a family with more than one affected individual and compatible with autosomal recessive inheritance, onset of symptoms in childhood or early adulthood, bilateral central vision loss with ‘‘beaten metal’’ foveal changes and/or yellow-white ‘‘fish-tail’’ flecks scattered through the posterior pole and peripheral retina (FFM), dark choroid in fluorescein angiography (in some but not all cases)." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055695" "00198" "00075920" "01695" "Unknown" "" "Stargardt disease or fundus flavimaculatus; retinal disorder in a family with more than one affected individual and compatible with autosomal recessive inheritance, onset of symptoms in childhood or early adulthood, bilateral central vision loss with ‘‘beaten metal’’ foveal changes and/or yellow-white ‘‘fish-tail’’ flecks scattered through the posterior pole and peripheral retina (FFM), dark choroid in fluorescein angiography (in some but not all cases)." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055696" "00198" "00075921" "01695" "Unknown" "" "Stargardt disease or fundus flavimaculatus; retinal disorder in a family with more than one affected individual and compatible with autosomal recessive inheritance, onset of symptoms in childhood or early adulthood, bilateral central vision loss with ‘‘beaten metal’’ foveal changes and/or yellow-white ‘‘fish-tail’’ flecks scattered through the posterior pole and peripheral retina (FFM), dark choroid in fluorescein angiography (in some but not all cases)." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055697" "00198" "00075922" "01695" "Unknown" "" "Stargardt disease or fundus flavimaculatus; retinal disorder in a family with more than one affected individual and compatible with autosomal recessive inheritance, onset of symptoms in childhood or early adulthood, bilateral central vision loss with ‘‘beaten metal’’ foveal changes and/or yellow-white ‘‘fish-tail’’ flecks scattered through the posterior pole and peripheral retina (FFM), dark choroid in fluorescein angiography (in some but not all cases)." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055698" "00198" "00075923" "01695" "Unknown" "" "Stargardt disease or fundus flavimaculatus; retinal disorder in a family with more than one affected individual and compatible with autosomal recessive inheritance, onset of symptoms in childhood or early adulthood, bilateral central vision loss with ‘‘beaten metal’’ foveal changes and/or yellow-white ‘‘fish-tail’’ flecks scattered through the posterior pole and peripheral retina (FFM), dark choroid in fluorescein angiography (in some but not all cases)." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055699" "00198" "00075924" "01695" "Unknown" "" "Stargardt disease or fundus flavimaculatus; retinal disorder in a family with more than one affected individual and compatible with autosomal recessive inheritance, onset of symptoms in childhood or early adulthood, bilateral central vision loss with ‘‘beaten metal’’ foveal changes and/or yellow-white ‘‘fish-tail’’ flecks scattered through the posterior pole and peripheral retina (FFM), dark choroid in fluorescein angiography (in some but not all cases)." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055700" "00198" "00075925" "01695" "Unknown" "" "Stargardt disease or fundus flavimaculatus; retinal disorder in a family with more than one affected individual and compatible with autosomal recessive inheritance, onset of symptoms in childhood or early adulthood, bilateral central vision loss with ‘‘beaten metal’’ foveal changes and/or yellow-white ‘‘fish-tail’’ flecks scattered through the posterior pole and peripheral retina (FFM), dark choroid in fluorescein angiography (in some but not all cases)." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055701" "00198" "00075926" "01695" "Unknown" "" "Stargardt disease or fundus flavimaculatus; retinal disorder in a family with more than one affected individual and compatible with autosomal recessive inheritance, onset of symptoms in childhood or early adulthood, bilateral central vision loss with ‘‘beaten metal’’ foveal changes and/or yellow-white ‘‘fish-tail’’ flecks scattered through the posterior pole and peripheral retina (FFM), dark choroid in fluorescein angiography (in some but not all cases)." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055702" "00198" "00075927" "01695" "Unknown" "" "Stargardt disease or fundus flavimaculatus; retinal disorder in a family with more than one affected individual and compatible with autosomal recessive inheritance, onset of symptoms in childhood or early adulthood, bilateral central vision loss with ‘‘beaten metal’’ foveal changes and/or yellow-white ‘‘fish-tail’’ flecks scattered through the posterior pole and peripheral retina (FFM), dark choroid in fluorescein angiography (in some but not all cases)." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055703" "00198" "00075928" "01695" "Unknown" "" "Stargardt disease or fundus flavimaculatus; retinal disorder in a family with more than one affected individual and compatible with autosomal recessive inheritance, onset of symptoms in childhood or early adulthood, bilateral central vision loss with ‘‘beaten metal’’ foveal changes and/or yellow-white ‘‘fish-tail’’ flecks scattered through the posterior pole and peripheral retina (FFM), dark choroid in fluorescein angiography (in some but not all cases)." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055704" "00198" "00075929" "01695" "Unknown" "" "Stargardt disease or fundus flavimaculatus; retinal disorder in a family with more than one affected individual and compatible with autosomal recessive inheritance, onset of symptoms in childhood or early adulthood, bilateral central vision loss with ‘‘beaten metal’’ foveal changes and/or yellow-white ‘‘fish-tail’’ flecks scattered through the posterior pole and peripheral retina (FFM), dark choroid in fluorescein angiography (in some but not all cases)." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055705" "00198" "00075930" "01695" "Unknown" "" "Stargardt disease or fundus flavimaculatus; retinal disorder in a family with more than one affected individual and compatible with autosomal recessive inheritance, onset of symptoms in childhood or early adulthood, bilateral central vision loss with ‘‘beaten metal’’ foveal changes and/or yellow-white ‘‘fish-tail’’ flecks scattered through the posterior pole and peripheral retina (FFM), dark choroid in fluorescein angiography (in some but not all cases)." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055706" "04214" "00075931" "01695" "Unknown" "" "retinitis pigmentosa; night blindness early in life with progressive constriction of their visual field, signs on funduscopic examination include attenuated retinal vessels, depigmentation of the RPE, intraretinal bone spicule pigmentation, and a waxy pallor of the optic disc, the ERG responses were decreased in a rod–cone pattern or nonrecordable when the disease had reached an end stage, at 45 years of age: OD hand movements, OS light perception" "6y" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000055707" "00420" "00075932" "01695" "Familial, autosomal recessive" "" "Stargardt disease; progressive retinal dystrophy with beaten-metal atrophy of the macula and/or yellow–white pisciform flecks in the posterior pole with onset of bilateral central vision loss in childhood or earlyadulthood, at 43 years of age: OD 20/125, OS 20/125" "12y" "" "unknown" "" "" "" "" "" "" "" ""
"0000055708" "00420" "00075933" "01695" "Familial, autosomal recessive" "" "Stargardt disease; progressive retinal dystrophy with beaten-metal atrophy of the macula and/or yellow–white pisciform flecks in the posterior pole with onset of bilateral central vision loss in childhood or earlyadulthood, at 42 years of age: OD 20/160, OS 20/200" "14y" "" "unknown" "" "" "" "" "" "" "" ""
"0000055709" "04214" "00075934" "01695" "Unknown" "" "retinitis pigmentosa; night blindness early in life with progressive constriction of their visual field, signs on funduscopic examination include attenuated retinal vessels, depigmentation of the RPE, intraretinal bone spicule pigmentation, and a waxy pallor of the optic disc, the ERG responses were decreased in a rod–cone pattern or nonrecordable when the disease had reached an end stage, at 82 years of age: OD light perception, OS hand movements" "14y" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000055710" "04214" "00075935" "01695" "Unknown" "" "retinitis pigmentosa; night blindness early in life with progressive constriction of their visual field, signs on funduscopic examination include attenuated retinal vessels, depigmentation of the RPE, intraretinal bone spicule pigmentation, and a waxy pallor of the optic disc, the ERG responses were decreased in a rod–cone pattern or nonrecordable when the disease had reached an end stage, at 78 years of age: OD light perception, OS light perception" "10y" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000055711" "00420" "00075936" "01695" "Familial, autosomal recessive" "" "Stargardt disease; progressive retinal dystrophy with beaten-metal atrophy of the macula and/or yellow–white pisciform flecks in the posterior pole with onset of bilateral central vision loss in childhood or earlyadulthood, at 31 years of age: OD 20/200, OS 20/80" "16y" "" "unknown" "" "" "" "" "" "" "" ""
"0000055712" "00420" "00075937" "01695" "Familial, autosomal recessive" "" "Stargardt disease; progressive retinal dystrophy with beaten-metal atrophy of the macula and/or yellow–white pisciform flecks in the posterior pole with onset of bilateral central vision loss in childhood or earlyadulthood, at 26 years of age: OD 20/160, OS 20/160" "13y" "" "unknown" "" "" "" "" "" "" "" ""
"0000055713" "00420" "00075938" "01695" "Familial, autosomal recessive" "" "Stargardt disease; progressive retinal dystrophy with beaten-metal atrophy of the macula and/or yellow–white pisciform flecks in the posterior pole with onset of bilateral central vision loss in childhood or earlyadulthood, at 50 years of age: OD 20/125, OS hand movements" "30y" "" "unknown" "" "" "" "" "" "" "" ""
"0000055714" "00058" "00075939" "01695" "Familial, autosomal recessive" "" "cone-rod dystrophy (HP:0000510); initial complaints of blurred central vision without a history of night blindness, impairment of color vision, and funduscopic evidence of maculopathy with or without mild peripheral retinopathy, in patients with recordable ERGs, a cone–rod pattern of voltage losses was present (i.e., the photopic b-wave impairment was equal to or greater than the scotopic b-wave amplitude impairment), at age 23: OD counting fingers, OS counting fingers" "5y" "" "unknown" "" "" "" "" "" "" "" ""
"0000055715" "00420" "00075940" "01695" "Familial, autosomal recessive" "" "Stargardt disease; progressive retinal dystrophy with beaten-metal atrophy of the macula and/or yellow–white pisciform flecks in the posterior pole with onset of bilateral central vision loss in childhood or earlyadulthood, at 13 years of age: OD 20/200, OS 20/63" "10y" "" "unknown" "" "" "" "" "" "" "" ""
"0000055716" "04214" "00075941" "01695" "Unknown" "" "retinitis pigmentosa" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000055717" "04214" "00075942" "01695" "Unknown" "" "retinitis pigmentosa" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000055718" "04214" "00075943" "01695" "Unknown" "" "retinitis pigmentosa" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000055719" "00420" "00075944" "01695" "Unknown" "" "Stargardt disease; juvenile-to-adult onset of symptoms, bilateral central vision loss, bilateral asymmetric pigmentary changes (associated with small yellowish subretinal lesions) in the posterior pole, macular atrophy and/or dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055720" "00420" "00075945" "01695" "Unknown" "" "Stargardt disease; juvenile-to-adult onset of symptoms, bilateral central vision loss, bilateral asymmetric pigmentary changes (associated with small yellowish subretinal lesions) in the posterior pole, macular atrophy and/or dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055721" "00420" "00075946" "01695" "Unknown" "" "Stargardt disease; bilateral central visual loss, a family history with a recessive mode of inheritance" "9y" "" "unknown" "" "" "" "" "" "" "" ""
"0000055722" "00420" "00075947" "01695" "Familial, autosomal recessive" "" "Stargardt disease; bilateral central visual loss, a family history with a recessive mode of inheritance" "10y" "" "unknown" "" "" "" "" "" "" "" ""
"0000055723" "00420" "00075948" "01695" "Familial, autosomal recessive" "" "Stargardt disease; bilateral central visual loss, a family history with a recessive mode of inheritance" "10y" "" "unknown" "" "" "" "" "" "" "" ""
"0000055724" "00420" "00075949" "01695" "Familial, autosomal recessive" "" "Stargardt disease; bilateral central visual loss, a family history with a recessive mode of inheritance" "10y" "" "unknown" "" "" "" "" "" "" "" ""
"0000055725" "00420" "00075950" "01695" "Unknown" "" "Stargardt disease; bilateral central visual loss, a family history with a recessive mode of inheritance" "9y" "" "unknown" "" "" "" "" "" "" "" ""
"0000055726" "00420" "00075951" "01695" "Unknown" "" "Stargardt disease; bilateral central visual loss, a family history with a recessive mode of inheritance" "20y" "" "unknown" "" "" "" "" "" "" "" ""
"0000055727" "00420" "00075952" "01695" "Unknown" "" "Stargardt disease; bilateral central visual loss, a family history with a recessive mode of inheritance" "10y" "" "unknown" "" "" "" "" "" "" "" ""
"0000055728" "00420" "00075953" "01695" "Unknown" "" "Stargardt disease; bilateral central visual loss, a family history with a recessive mode of inheritance" "18y" "" "unknown" "" "" "" "" "" "" "" ""
"0000055729" "00420" "00075954" "01695" "Unknown" "" "Stargardt disease; bilateral central visual loss, a family history with a recessive mode of inheritance" "10y" "" "unknown" "" "" "" "" "" "" "" ""
"0000055730" "00420" "00075955" "01695" "Familial, autosomal recessive" "" "Stargardt disease; bilateral central visual loss, a family history with a recessive mode of inheritance" "27y" "" "unknown" "" "" "" "" "" "" "" ""
"0000055731" "00420" "00075956" "01695" "Familial, autosomal recessive" "" "Stargardt disease; bilateral central visual loss, a family history with a recessive mode of inheritance" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055732" "00420" "00075957" "01695" "Familial, autosomal recessive" "" "Stargardt disease; bilateral central visual loss, a family history with a recessive mode of inheritance" "5y" "" "unknown" "" "" "" "" "" "" "" ""
"0000055733" "00420" "00075958" "01695" "Familial, autosomal recessive" "" "Stargardt disease; bilateral central visual loss, a family history with a recessive mode of inheritance" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055734" "00420" "00075959" "01695" "Unknown" "" "Stargardt disease; bilateral central visual loss, a family history with a recessive mode of inheritance" "5y" "" "unknown" "" "" "" "" "" "" "" ""
"0000055735" "00420" "00075960" "01695" "Unknown" "" "Stargardt disease; bilateral central visual loss, a family history with a recessive mode of inheritance" "9y" "" "unknown" "" "" "" "" "" "" "" ""
"0000055736" "00420" "00075961" "01695" "Unknown" "" "Stargardt disease; bilateral central visual loss, a family history with a recessive mode of inheritance" "9y" "" "unknown" "" "" "" "" "" "" "" ""
"0000055737" "00420" "00075962" "01695" "Unknown" "" "Stargardt disease; bilateral central visual loss, a family history with a recessive mode of inheritance" "9y" "" "unknown" "" "" "" "" "" "" "" ""
"0000055738" "00420" "00075963" "01695" "Unknown" "" "Stargardt disease; bilateral central visual loss, a family history with a recessive mode of inheritance" "10y" "" "unknown" "" "" "" "" "" "" "" ""
"0000055739" "00420" "00075964" "01695" "Unknown" "" "Stargardt disease; bilateral central visual loss, a family history with a recessive mode of inheritance" "10y" "" "unknown" "" "" "" "" "" "" "" ""
"0000055740" "00420" "00075965" "01695" "Unknown" "" "Stargardt disease; bilateral central visual loss, a family history with a recessive mode of inheritance" "10y" "" "unknown" "" "" "" "" "" "" "" ""
"0000055741" "00420" "00075966" "01695" "Unknown" "" "Stargardt disease; bilateral central visual loss, a family history with a recessive mode of inheritance" "11y" "" "unknown" "" "" "" "" "" "" "" ""
"0000055742" "00420" "00075967" "01695" "Unknown" "" "Stargardt disease; bilateral central visual loss, a family history with a recessive mode of inheritance" "12y" "" "unknown" "" "" "" "" "" "" "" ""
"0000055743" "00420" "00075968" "01695" "Unknown" "" "Stargardt disease; bilateral central visual loss, a family history with a recessive mode of inheritance" "14y" "" "unknown" "" "" "" "" "" "" "" ""
"0000055744" "00420" "00075969" "01695" "Unknown" "" "Stargardt disease; bilateral central visual loss, a family history with a recessive mode of inheritance" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055745" "00420" "00075970" "01695" "Unknown" "" "Stargardt disease; bilateral central visual loss, a family history with a recessive mode of inheritance" "10y" "" "unknown" "" "" "" "" "" "" "" ""
"0000055746" "00420" "00075971" "01695" "Unknown" "" "Stargardt disease; bilateral central visual loss, a family history with a recessive mode of inheritance" "18y" "" "unknown" "" "" "" "" "" "" "" ""
"0000055747" "00420" "00075972" "01695" "Unknown" "" "Stargardt disease; bilateral central visual loss, a family history with a recessive mode of inheritance" "25y" "" "unknown" "" "" "" "" "" "" "" ""
"0000055748" "00420" "00075973" "01695" "Unknown" "" "Stargardt disease; bilateral central visual loss, a family history with a recessive mode of inheritance" "27y" "" "unknown" "" "" "" "" "" "" "" ""
"0000055749" "00420" "00075974" "01695" "Unknown" "" "Stargardt disease; bilateral central visual loss, a family history with a recessive mode of inheritance" "8y" "" "unknown" "" "" "" "" "" "" "" ""
"0000055750" "00420" "00075975" "01695" "Unknown" "" "Stargardt disease; bilateral central visual loss, a family history with a recessive mode of inheritance" "13y" "" "unknown" "" "" "" "" "" "" "" ""
"0000055751" "00420" "00075976" "01695" "Unknown" "" "Stargardt disease; bilateral central visual loss, a family history with a recessive mode of inheritance" "9y" "" "unknown" "" "" "" "" "" "" "" ""
"0000055752" "00420" "00075977" "01695" "Unknown" "" "Stargardt disease; bilateral central visual loss, a family history with a recessive mode of inheritance" "11y" "" "unknown" "" "" "" "" "" "" "" ""
"0000055753" "00420" "00075978" "01695" "Unknown" "" "Stargardt disease; bilateral central visual loss, a family history with a recessive mode of inheritance" "13y" "" "unknown" "" "" "" "" "" "" "" ""
"0000055754" "00420" "00075979" "01695" "Unknown" "" "Stargardt disease; bilateral central visual loss, a family history with a recessive mode of inheritance" "12y" "" "unknown" "" "" "" "" "" "" "" ""
"0000055755" "00420" "00075980" "01695" "Unknown" "" "Stargardt disease; bilateral central visual loss, a family history with a recessive mode of inheritance" "9y" "" "unknown" "" "" "" "" "" "" "" ""
"0000055756" "04214" "00075981" "01695" "Unknown" "" "retinitis pigmentosa" "24y" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000055757" "00420" "00075982" "01695" "Unknown" "" "Stargardt disease; bilateral central visual loss, a family history with a recessive mode of inheritance" "10y" "" "unknown" "" "" "" "" "" "" "" ""
"0000055758" "00420" "00075983" "01695" "Unknown" "" "Stargardt disease; bilateral central visual loss, a family history with a recessive mode of inheritance" "10y" "" "unknown" "" "" "" "" "" "" "" ""
"0000055759" "00420" "00075984" "01695" "Unknown" "" "Stargardt disease; bilateral central visual loss, a family history with a recessive mode of inheritance" "8y" "" "unknown" "" "" "" "" "" "" "" ""
"0000055760" "00420" "00075985" "01695" "Unknown" "" "Stargardt disease; bilateral central visual loss, a family history with a recessive mode of inheritance" "27y" "" "unknown" "" "" "" "" "" "" "" ""
"0000055761" "00420" "00075986" "01695" "Unknown" "" "Stargardt disease; bilateral central visual loss, a family history with a recessive mode of inheritance" "29y" "" "unknown" "" "" "" "" "" "" "" ""
"0000055762" "00420" "00075987" "01695" "Unknown" "" "Stargardt disease; bilateral central visual loss, a family history with a recessive mode of inheritance" "31y" "" "unknown" "" "" "" "" "" "" "" ""
"0000055763" "00420" "00075988" "01695" "Unknown" "" "Stargardt disease; bilateral central visual loss, a family history with a recessive mode of inheritance" "11y" "" "unknown" "" "" "" "" "" "" "" ""
"0000055764" "00420" "00075989" "01695" "Unknown" "" "Stargardt disease; bilateral central visual loss, a family history with a recessive mode of inheritance" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055765" "00420" "00075990" "01695" "Unknown" "" "Stargardt disease; juvenile-to-adult onset of symptoms, bilateral central vision loss, typical ophthalmoscopic features consisting of macular dystrophy and/or atrophy (beaten bronze appearance or large patch of atrophy), flecks distributed throughout the fundus OD <20/400, OS 20/100" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055766" "00420" "00075991" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055767" "00420" "00075992" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055768" "00198" "00075993" "01695" "Unknown" "" "Fundus flavimaculatus" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055769" "00420" "00075994" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055770" "00198" "00075995" "01695" "Unknown" "" "Fundus flavimaculatus" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055771" "00420" "00075996" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055772" "00420" "00075997" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055773" "00420" "00075998" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055774" "00420" "00075999" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055775" "00420" "00076000" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055776" "00420" "00076001" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055777" "00420" "00076002" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055778" "00420" "00076003" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055779" "00420" "00076004" "01695" "Unknown" "" "Stargardt disease; Came to our observation in 2009 with a BCVA of 20/200 in both eyes. Biomicroscopic examination of the anterior segment showed healthy ocular adnexa, and specular, transparent and ‘in situ’ lens that may justify the absence of any ocular trauma reported by the patient’s clinical history. Fundus examination showed the presence of variable pigmentary changes in the macula associated with flecks that extended beyond the vascular arcades (Fishman II) and a small inferior juxta-papillar area of subretinal fibrosis associated with pigment in the right eye, while in the left eye this lesion was localized in the posterior pole, macula temporally (fig. 1c, fig. 2). ERG showed normal scotopic and photopic responses (Lois I). MP reported instable fixation in the right eye and stable fixation in the left eye with low retinal mean sensitivity in both eyes (8.0 dB in the right eye and 10.0 dB in the left eye). Visual acuity remained stable." "10y" "" "unknown" "" "" "" "" "" "" "" ""
"0000055780" "00420" "00076005" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055781" "00420" "00076006" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055782" "00198" "00076007" "01695" "Unknown" "" "fundus flavimaculatus, late onset; At 68 years of age: OD 0.1 OS 0.6, geographic atrophic changes in posterior pole surrounded by pisciform yellow flecks, decreased sensitivity of central visual field" "60y" "" "unknown" "" "" "" "" "" "" "" ""
"0000055783" "00198" "00076008" "01695" "Unknown" "" "Fundus flavimaculatus; At 52 years of age: OD 0.1 OS 0.1, yellow pisciform flecks in posterior pole extending in periphery, relative central scotomas." "15y" "" "unknown" "" "" "" "" "" "" "" ""
"0000055784" "00420" "00076009" "01695" "Unknown" "" "Stargardt disease; At 40 years of age: OD 0.1 OS 0.05, discrete number of yellow flecks surrounding macula, mild atrophic changes, relative central scotomas" "14y" "" "unknown" "" "" "" "" "" "" "" ""
"0000055785" "00198" "00076010" "01695" "Unknown" "" "Stargardt disease or Cone-rod dystrophy; At 16 years of age: OD 0.05 OS 0.05 Age 10: abnormal macular reflex, yellow flecks in posterior pole extending to midperiphery. Age 14: flecks have disappeared, atrophy of macula. Central scotoma." "10y" "" "unknown" "" "" "" "" "" "" "" ""
"0000055786" "00198" "00076011" "01695" "Unknown" "" "Stargardt disease or Cone-rod dystrophy; At 75 years of age: OD Hand motion OS Hand motion, age 54: atrophy mainly in posterior pole, age 75: widespread atrophy throughout retina, 1960: central scotomas of 15°, 2003: impossible to perform visual fields." "20y" "" "unknown" "" "" "" "" "" "" "" ""
"0000055787" "04214" "00076012" "01695" "Unknown" "" "retinitis pigmentosa; Extensive atrophy with almost complete loss of peripheral and central retinal functions. At 58 years of age: OD Hand motion OS Light perception, Age 17: macular pigment alterations, atrophic spots in retinal periphery. Age 40: extensive, central and midperipheral atrophy, attenuated vessels, large, absolute central scotomas of 60°, nasal constriction." "7y" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000055788" "00420" "00076013" "01695" "Unknown" "" "Stargardt disease; bilateral impairment of central vision, atrophic macular lesions (a beaten bronze appearance or large patches of atrophy) with or without the appearance of perimacular, at age 24: OD 20/1,000" "3y" "" "visual loss" "" "" "" "" "" "" "" ""
"0000055789" "00420" "00076014" "01695" "Unknown" "" "Stargardt disease; bilateral impairment of central vision, atrophic macular lesions (a beaten bronze appearance or large patches of atrophy) with or without the appearance of perimacular, at age 21: OD 20/200, dark choroid" "5y" "" "visual loss" "" "" "" "" "" "" "" ""
"0000055790" "00420" "00076015" "01695" "Familial, autosomal recessive" "" "Stargardt disease; bilateral impairment of central vision, atrophic macular lesions (a beaten bronze appearance or large patches of atrophy) with or without the appearance of perimacular, at age 19: OD 20/200, dark choroid" "7y" "" "visual loss" "" "" "" "" "" "" "" ""
"0000055791" "00420" "00076016" "01695" "Familial, autosomal recessive" "" "Stargardt disease; bilateral impairment of central vision, atrophic macular lesions (a beaten bronze appearance or large patches of atrophy) with or without the appearance of perimacular, at age 16: OD 20/600, dark choroid" "7y" "" "visual loss" "" "" "" "" "" "" "" ""
"0000055792" "00420" "00076017" "01695" "Familial, autosomal recessive" "" "Stargardt disease; bilateral impairment of central vision, atrophic macular lesions (a beaten bronze appearance or large patches of atrophy) with or without the appearance of perimacular, at age 14: OD 20/260, dark choroid" "10y" "" "visual loss" "" "" "" "" "" "" "" ""
"0000055793" "00420" "00076018" "01695" "Unknown" "" "Stargardt disease; bilateral impairment of central vision, atrophic macular lesions (a beaten bronze appearance or large patches of atrophy) with or without the appearance of perimacular, at age 31: OD 20/50, dark choroid; y34: visual acuity 0.085, extensive atrophic-appearing RPE changes, extensive loss of inner-outer segment junction (more than 1 disc diameter from the fovea)." "15y" "" "visual loss" "" "" "" "" "" "" "" ""
"0000055794" "00420" "00076019" "01695" "Unknown" "" "Stargardt disease; bilateral impairment of central vision, atrophic macular lesions (a beaten bronze appearance or large patches of atrophy) with or without the appearance of perimacular, at age 32: OD 20/200, dark choroid" "6y" "" "visual loss" "" "" "" "" "" "" "" ""
"0000055795" "00420" "00076020" "01695" "Unknown" "" "Stargardt disease; bilateral impairment of central vision, atrophic macular lesions (a beaten bronze appearance or large patches of atrophy) with or without the appearance of perimacular, at age 26: OD 20/1,000" "6y" "" "visual loss" "" "" "" "" "" "" "" ""
"0000055796" "00420" "00076021" "01695" "Unknown" "" "Stargardt disease; bilateral impairment of central vision, atrophic macular lesions (a beaten bronze appearance or large patches of atrophy) with or without the appearance of perimacular, at age 33: OD 20/70; y36: visual acuity 0.0125, extensive atrophic-appearing RPE changes, extensive loss of inner-outer segment junction (more than 1 disc diameter from the fovea)." "20y" "" "visual loss" "" "" "" "" "" "" "" ""
"0000055797" "00420" "00076022" "01695" "Unknown" "" "Stargardt disease; bilateral impairment of central vision, atrophic macular lesions (a beaten bronze appearance or large patches of atrophy) with or without the appearance of perimacular, at age 44: OD 20/400no" "20y" "" "visual loss" "" "" "" "" "" "" "" ""
"0000055798" "00420" "00076023" "01695" "Unknown" "" "Stargardt disease; bilateral impairment of central vision, atrophic macular lesions (a beaten bronze appearance or large patches of atrophy) with or without the appearance of perimacular, at age 25: OD 20/1,000" "9y" "" "visual loss" "" "" "" "" "" "" "" ""
"0000055799" "00420" "00076024" "01695" "Familial, autosomal recessive" "" "Stargardt disease; bilateral impairment of central vision, atrophic macular lesions (a beaten bronze appearance or large patches of atrophy) with or without the appearance of perimacular, at age 46: OD 20/1,000, dark choroid" "24y" "" "visual loss" "" "" "" "" "" "" "" ""
"0000055800" "00420" "00076025" "01695" "Familial, autosomal recessive" "" "Stargardt disease; bilateral impairment of central vision, atrophic macular lesions (a beaten bronze appearance or large patches of atrophy) with or without the appearance of perimacular, at age 42: OD 20/600no" "32y" "" "visual loss" "" "" "" "" "" "" "" ""
"0000055801" "00420" "00076026" "01695" "Isolated (sporadic)" "" "Stargardt disease; bilateral impairment of central vision, atrophic macular lesions (a beaten bronze appearance or large patches of atrophy) with or without the appearance of perimacular, at age 24: OD 20/50, dark choroid; y28: visual acuity 0.1, numerous yellowish-white fundus lesions throughout the posterior pole, inner-outer segment junction loss in the foveal area." "22y" "" "visual loss" "" "" "" "" "" "" "" ""
"0000055802" "00420" "00076027" "01695" "Familial, autosomal recessive" "" "Stargardt disease; bilateral impairment of central vision, atrophic macular lesions (a beaten bronze appearance or large patches of atrophy) with or without the appearance of perimacular, at age 27: OD 20/33, dark choroid" "25y" "" "visual loss" "" "" "" "" "" "" "" ""
"0000055803" "00420" "00076028" "01695" "Familial, autosomal recessive" "" "Stargardt disease; bilateral impairment of central vision, atrophic macular lesions (a beaten bronze appearance or large patches of atrophy) with or without the appearance of perimacular, at age 41: OD 20/200, dark choroid" "27y" "" "visual loss" "" "" "" "" "" "" "" ""
"0000055804" "00420" "00076029" "01695" "Unknown" "" "Stargardt disease; bilateral impairment of central vision, atrophic macular lesions (a beaten bronze appearance or large patches of atrophy) with or without the appearance of perimacular, at age 41: OD 20/20" "30y" "" "visual loss" "" "" "" "" "" "" "" ""
"0000055805" "00420" "00076030" "01695" "Familial, autosomal recessive" "" "Stargardt disease; bilateral impairment of central vision, atrophic macular lesions (a beaten bronze appearance or large patches of atrophy) with or without the appearance of perimacular, at age 66: OD 20/1,000no" "30y" "" "visual loss" "" "" "" "" "" "" "" ""
"0000055806" "00420" "00076031" "01695" "Familial, autosomal recessive" "" "Stargardt disease; bilateral impairment of central vision, atrophic macular lesions (a beaten bronze appearance or large patches of atrophy) with or without the appearance of perimacular, at age 67: OD 20/1,000no" "30y" "" "visual loss" "" "" "" "" "" "" "" ""
"0000055807" "00420" "00076032" "01695" "Familial, autosomal recessive" "" "Stargardt disease; bilateral impairment of central vision, atrophic macular lesions (a beaten bronze appearance or large patches of atrophy) with or without the appearance of perimacular, at age 45: OD 20/600, dark choroid" "32y" "" "visual loss" "" "" "" "" "" "" "" ""
"0000055808" "00420" "00076033" "01695" "Familial, autosomal recessive" "" "Stargardt disease; bilateral impairment of central vision, atrophic macular lesions (a beaten bronze appearance or large patches of atrophy) with or without the appearance of perimacular, at age 48: OD 20/1,000, dark choroid" "33y" "" "visual loss" "" "" "" "" "" "" "" ""
"0000055809" "00420" "00076034" "01695" "Familial, autosomal recessive" "" "Stargardt disease; bilateral impairment of central vision, atrophic macular lesions (a beaten bronze appearance or large patches of atrophy) with or without the appearance of perimacular, at age 41: OD 20/200, dark choroid" "30y" "" "visual loss" "" "" "" "" "" "" "" ""
"0000055810" "00420" "00076035" "01695" "Familial, autosomal recessive" "" "Stargardt disease; bilateral impairment of central vision, atrophic macular lesions (a beaten bronze appearance or large patches of atrophy) with or without the appearance of perimacular, at age 44: OD 20/600, dark choroid" "30y" "" "visual loss" "" "" "" "" "" "" "" ""
"0000055811" "00420" "00076036" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055812" "00381" "00076037" "01695" "Familial, autosomal recessive" "" "Retinal dystrophy; at 28 years of age: decreased vision, visiual acuity: OU 20/200, Macular degeneration, pigment migration around arcades, RPE degeneration, arterial narrowing, vitreous opacities, slight disk pallor; bilateral, symmetric, diffuse, primary retinal dystrophy, diffuse and widespread (defined as involving the retina beyond the posterior pole) retinal pigment epithelial degeneration (that appears as fine, white, or grayish discoloration of the deeper retinal layers); arterial narrowing; visual field loss commensurate with clinical lesions; and reduced amplitudes on electroretinogram (ERG) to less than 25% of the maximal retinal response in normal individuals, that is, less than 80 V for b-wave and 30 V for a-wave (normal amplitude of b-wave 350 V and a-wave 110 V)." "5y" "" "unknown" "" "" "" "" "" "" "" ""
"0000055813" "00381" "00076038" "01695" "Familial, autosomal recessive" "" "Retinal dystrophy; at 23 years of age: decreased vision for reading, visiual acuity: OD ambloypia, counting fingers 1m, OS 20/100, Bronze reflex with RPE atrophy in macular area, vessels and disk normal. Mild RPE degeneration, patches around arcades; bilateral, symmetric, diffuse, primary retinal dystrophy, diffuse and widespread (defined as involving the retina beyond the posterior pole) retinal pigment epithelial degeneration (that appears as fine, white, or grayish discoloration of the deeper retinal layers); arterial narrowing; visual field loss commensurate with clinical lesions; and reduced amplitudes on electroretinogram (ERG) to less than 25% of the maximal retinal response in normal individuals, that is, less than 80 V for b-wave and 30 V for a-wave (normal amplitude of b-wave 350 V and a-wave 110 V)." "5y" "" "unknown" "" "" "" "" "" "" "" ""
"0000055814" "00381" "00076039" "01695" "Familial, autosomal recessive" "" "Retinal dystrophy; at 19 years of age: decreased distance and reading vision, visiual acuity: OD 20/800, OS 20/200, Mild disk pallor, macular RPE degenerative changes, no peripheral changes seen initially, peripheral RPE changes developed after 6 years; bilateral, symmetric, diffuse, primary retinal dystrophy, diffuse and widespread (defined as involving the retina beyond the posterior pole) retinal pigment epithelial degeneration (that appears as fine, white, or grayish discoloration of the deeper retinal layers); arterial narrowing; visual field loss commensurate with clinical lesions; and reduced amplitudes on electroretinogram (ERG) to less than 25% of the maximal retinal response in normal individuals, that is, less than 80 V for b-wave and 30 V for a-wave (normal amplitude of b-wave 350 V and a-wave 110 V)." "12y" "" "unknown" "" "" "" "" "" "" "" ""
"0000055815" "00381" "00076040" "01695" "Familial, autosomal recessive" "" "Retinal dystrophy; at 32 years of age: decreased vision, needs more light, visiual acuity: OU 20/400, Nystagmus, diffuse RPE degeneration all over, more in macular area, arterial narrowing, pigmentary changes in macular area; bilateral, symmetric, diffuse, primary retinal dystrophy, diffuse and widespread (defined as involving the retina beyond the posterior pole) retinal pigment epithelial degeneration (that appears as fine, white, or grayish discoloration of the deeper retinal layers); arterial narrowing; visual field loss commensurate with clinical lesions; and reduced amplitudes on electroretinogram (ERG) to less than 25% of the maximal retinal response in normal individuals, that is, less than 80 V for b-wave and 30 V for a-wave (normal amplitude of b-wave 350 V and a-wave 110 V)." "15y" "" "unknown" "" "" "" "" "" "" "" ""
"0000055816" "00381" "00076041" "01695" "Familial, autosomal recessive" "" "Retinal dystrophy; at 24 years of age: decreased vision, needs more light, visiual acuity: OU 20/400, Nystagmus, no disk pallor, arterial narrowing, pigmentary changes in macular area and periphery; bilateral, symmetric, diffuse, primary retinal dystrophy, diffuse and widespread (defined as involving the retina beyond the posterior pole) retinal pigment epithelial degeneration (that appears as fine, white, or grayish discoloration of the deeper retinal layers); arterial narrowing; visual field loss commensurate with clinical lesions; and reduced amplitudes on electroretinogram (ERG) to less than 25% of the maximal retinal response in normal individuals, that is, less than 80 V for b-wave and 30 V for a-wave (normal amplitude of b-wave 350 V and a-wave 110 V)." "14y" "" "unknown" "" "" "" "" "" "" "" ""
"0000055817" "00198" "00076042" "01695" "Familial, autosomal recessive" "" "Retinitis pigmentosa or cone-rod dystrophy; Third decade of life: night blindness. Macular degeneration, progressive central scotoma. 26 years of age: his visual acuities were severely decreased (20/2000 in the right eye and 20/1000 in the left eye) with only peripheral visual fields remaining, funduscopy disclosed pigmented retinal degeneration, almost complete loss of both photopic and scotopic functions, FA showed chorioretinal degeneration extending to the vascular arcade." "7y" "" "decreased central vision" "" "" "" "" "" "" "" ""
"0000055818" "00198" "00076043" "01695" "Familial, autosomal recessive" "" "Retinitis pigmentosa or cone-rod dystrophy; Macular degeneration, progressive central scotoma. 25 years of age: his visual acuities were severely decreased (finger count in the right eye and 20/2000 in the left eye), fundus appearance: only peripheral visual fields remaining and almost complete loss of both photopic and scotopic functions. FA could not be performed." "7y" "" "decreased central vision, night blindness" "" "" "" "" "" "" "" ""
"0000055819" "00198" "00076044" "01695" "Familial, autosomal recessive" "" "Retinitis pigmentosa or cone-rod dystrophy" "" "" "decreased central vision, night blindness" "" "" "" "" "" "" "" ""
"0000055820" "00058" "00076045" "01695" "Isolated (sporadic)" "" "cone-rod dystrophy (HP:0000510); bilateral best-corrected visual acuity of 20/200 and the retinal alterations were consistent with typical ophthalmoscopic features of macular dystrophy with fundus flavimaculatus, a full-field electroretinogram (ERG) demonstrated alterations in both cone and rod responses." "14y" "" "bilateral loss of central vision" "" "" "" "" "" "" "" ""
"0000055821" "00420" "00076046" "01695" "Familial, autosomal recessive" "" "Stargardt disease; bilateral central loss of vision with a beaten-bronze appearance and/or the presence of orange-yellowish flecks in the retina from the posterior pole to the midperiphery, central scotoma, visual acuity 0.1/0.1, RPE atrophy" "9y" "" "unknown" "" "" "" "" "" "" "" ""
"0000055822" "00420" "00076047" "01695" "Familial, autosomal recessive" "" "Stargardt disease; bilateral central loss of vision with a beaten-bronze appearance and/or the presence of orange-yellowish flecks in the retina from the posterior pole to the midperiphery, central scotoma, visual acuity 0.06/0.08, Optic pit left eye" "10y" "" "unknown" "" "" "" "" "" "" "" ""
"0000055823" "00420" "00076048" "01695" "Familial, autosomal recessive" "" "Stargardt disease; bilateral central loss of vision with a beaten-bronze appearance and/or the presence of orange-yellowish flecks in the retina from the posterior pole to the midperiphery, visual acuity 0.1/0.1," "10y" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000055824" "00420" "00076049" "01695" "Familial, autosomal recessive" "" "Stargardt disease; bilateral central loss of vision with a beaten-bronze appearance and/or the presence of orange-yellowish flecks in the retina from the posterior pole to the midperiphery, central scotoma, visual acuity 0.05/0.2," "10y" "" "unknown" "" "" "" "" "" "" "" ""
"0000055825" "00420" "00076050" "01695" "Familial, autosomal recessive" "" "Stargardt disease; bilateral central loss of vision with a beaten-bronze appearance and/or the presence of orange-yellowish flecks in the retina from the posterior pole to the midperiphery, central scotoma, visual acuity 0.3/0.3, RPE atrophy; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "11y" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000055826" "00420" "00076051" "01695" "Familial, autosomal recessive" "" "Stargardt disease; bilateral central loss of vision with a beaten-bronze appearance and/or the presence of orange-yellowish flecks in the retina from the posterior pole to the midperiphery, central scotoma, visual acuity 0.3/0.4, Photosensitive" "15y" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000055827" "00420" "00076052" "01695" "Familial, autosomal recessive" "" "Stargardt disease; bilateral central loss of vision with a beaten-bronze appearance and/or the presence of orange-yellowish flecks in the retina from the posterior pole to the midperiphery, central scotoma, visual acuity 0.2/0.3, Myopia,photosensitive" "19y" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000055828" "00420" "00076053" "01695" "Familial, autosomal recessive" "" "Stargardt disease; bilateral central loss of vision with a beaten-bronze appearance and/or the presence of orange-yellowish flecks in the retina from the posterior pole to the midperiphery, central scotoma, visual acuity 0.1/0.2," "15y" "" "unknown" "" "" "" "" "" "" "" ""
"0000055829" "00420" "00076054" "01695" "Familial, autosomal recessive" "" "Stargardt disease; bilateral central loss of vision with a beaten-bronze appearance and/or the presence of orange-yellowish flecks in the retina from the posterior pole to the midperiphery, central scotoma, visual acuity x," "17y" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000055830" "00420" "00076055" "01695" "Familial, autosomal recessive" "" "Stargardt disease; bilateral central loss of vision with a beaten-bronze appearance and/or the presence of orange-yellowish flecks in the retina from the posterior pole to the midperiphery, central scotoma, visual acuity 0.1/0.1, RPE" "20y" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000055831" "00420" "00076056" "01695" "Familial, autosomal recessive" "" "Stargardt disease; bilateral central loss of vision with a beaten-bronze appearance and/or the presence of orange-yellowish flecks in the retina from the posterior pole to the midperiphery, central scotoma, visual acuity 0.15/0.1, RPE" "21y" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000055832" "00420" "00076057" "01695" "Familial, autosomal recessive" "" "Stargardt disease; bilateral central loss of vision with a beaten-bronze appearance and/or the presence of orange-yellowish flecks in the retina from the posterior pole to the midperiphery, central scotoma, visual acuity HM/0.1, Accidental retina detachment" "25y" "" "unknown" "" "" "" "" "" "" "" ""
"0000055833" "00420" "00076058" "01695" "Familial, autosomal recessive" "" "Stargardt disease; bilateral central loss of vision with a beaten-bronze appearance and/or the presence of orange-yellowish flecks in the retina from the posterior pole to the midperiphery, central scotoma, visual acuity CF/HM, Cataract, RPE atrophy, chronic glaucoma" "29y" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000055834" "00420" "00076059" "01695" "Familial, autosomal recessive" "" "Stargardt disease; bilateral central loss of vision with a beaten-bronze appearance and/or the presence of orange-yellowish flecks in the retina from the posterior pole to the midperiphery, central scotoma, visual acuity 0.2/0.5, RPE atrophy, parafoveolar teleangiectasia, photosensitive" "40y" "" "unknown" "" "" "" "" "" "" "" ""
"0000055835" "00420" "00076060" "01695" "Familial, autosomal recessive" "" "Stargardt disease; bilateral central loss of vision with a beaten-bronze appearance and/or the presence of orange-yellowish flecks in the retina from the posterior pole to the midperiphery, central scotoma, visual acuity 0.5/0.5, Strabismus(2-3 y), RPE atrophy FFM" "9y" "" "unknown" "" "" "" "" "" "" "" ""
"0000055836" "00420" "00076061" "01695" "Familial, autosomal recessive" "" "Stargardt disease; bilateral central loss of vision with a beaten-bronze appearance and/or the presence of orange-yellowish flecks in the retina from the posterior pole to the midperiphery, central scotoma, visual acuity 0.1/0.8," "31y" "" "unknown" "" "" "" "" "" "" "" ""
"0000055837" "00420" "00076062" "01695" "Familial, autosomal recessive" "" "Stargardt disease; bilateral central loss of vision with a beaten-bronze appearance and/or the presence of orange-yellowish flecks in the retina from the posterior pole to the midperiphery, visual acuity 0.16/0.125, Consanguinity" "21y" "" "unknown" "" "" "" "" "" "" "" ""
"0000055838" "00420" "00076063" "01695" "Familial, autosomal recessive" "" "Stargardt disease; bilateral central loss of vision with a beaten-bronze appearance and/or the presence of orange-yellowish flecks in the retina from the posterior pole to the midperiphery, central scotoma, visual acuity 0.4/0.1, RPE atrophy, dischromatopsy" "19y" "" "unknown" "" "" "" "" "" "" "" ""
"0000055839" "00420" "00076064" "01695" "Familial, autosomal recessive" "" "Stargardt disease; bilateral central loss of vision with a beaten-bronze appearance and/or the presence of orange-yellowish flecks in the retina from the posterior pole to the midperiphery, central scotoma, visual acuity 0.1/0.1, Strabismus, RPE atrophy, FFM" "19y" "" "unknown" "" "" "" "" "" "" "" ""
"0000055840" "00420" "00076065" "01695" "Familial, autosomal recessive" "" "Stargardt disease; bilateral central loss of vision with a beaten-bronze appearance and/or the presence of orange-yellowish flecks in the retina from the posterior pole to the midperiphery, central scotoma, visual acuity 0.1/0.1, RPE atrophy" "12y" "" "unknown" "" "" "" "" "" "" "" ""
"0000055841" "00198" "00076066" "01695" "Familial, autosomal recessive" "" "fundus flavimaculatus, late onset; Best-corrected visual acuity slowly decreased from 20/20 right eye (RE) and 20/30 LE at age 70, to 20/30 RE and 20/40 LE at age 76. Bilateral FFM yellowish flecks in the posterior pole. The “young” flecks, yellowish, sharply outlined and hypofluorescent on FA, turned to “old” flecks, gray, less defined and hyperfluorescent on FA. Two patches of perimacular retinal pigment epithelial atrophy were noted in the left eye at age 76. Dark choroid slowly increased at FA examinations. Retinal flecks, whatever their age, were constantly hypofluorescent on ICG angiography." "70y" "" "moderate loss of central vision in the left eye" "" "" "" "" "" "" "" ""
"0000055842" "00420" "00076067" "01695" "Familial, autosomal recessive" "" "Stargardt disease" "20y" "" "visual acuity reduction (Sehschärfeminderung), increased glare sensitivity (vermehrth Blendungsempfindlichkeit), dark adaptation weakness (Dunkeladaptationsschwäche)" "" "" "" "" "" "" "" ""
"0000055843" "04214" "00076068" "01695" "Familial, autosomal recessive" "" "retinitis pigmentosa" "<10y" "" "low visual acuity, night blindness" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000055844" "00058" "00076069" "01695" "Isolated (sporadic)" "" "cone-rod dystrophy (HP:0000510); cone ERG amplitude reduced by 90% or more, cone-rod ERG amplitude reduced by 50% or more, and markedly delayed cone implicit time, bull’s eye depigmentation of the fovea and flecks at the posterior pole extending to the mid-peripheral retina" "9y" "" "blurred vision, 20/400 in both eyes, bull\'s eye depigmentation of the fovea and flecks at the posterior pole extending to the mid-peripheral retina" "" "" "" "" "" "" "" ""
"0000055845" "00420" "00076070" "01695" "Unknown" "" "Stargardt disease; localized fundus flecks in the parafoveal region" "<52y" "" "unknown" "" "" "" "" "" "" "" ""
"0000055846" "00420" "00076071" "01695" "Isolated (sporadic)" "" "Stargardt disease; For a long time, photophobia and dyschromatopsia were the only presented symptoms. y35, her visual acuity was 100/200, biomicroscopy was normal and funduscopy revealed yellowish flecks at the macula. Angiofluoresceingraphy (AFG) showed silent choroid areas and hyperfluorescent dots at the perifoveal retina, resembling little defects at the RPE." "<3y" "" "mild vision loss and strabismus" "" "" "" "" "" "" "" ""
"0000055847" "00058" "00076072" "01695" "Familial, autosomal recessive" "" "cone-rod dystrophy (HP:0000510); Reduced cone and rod ERGs, OD: 0.05, OS: 0.05, Central scotoma, Slight concentric narrowing" "8y" "" "unknown" "" "" "" "" "" "" "" ""
"0000055848" "00058" "00076073" "01695" "Familial, autosomal recessive" "" "cone-rod dystrophy (HP:0000510); Reduced cone and rod ERGs, OD: 0.05, OS: 0.05, Central scotoma, White dots, Slight concentric narrowing" "5y" "" "unknown" "" "" "" "" "" "" "" ""
"0000055849" "00058" "00076074" "01695" "Familial, autosomal recessive" "" "cone-rod dystrophy (HP:0000510); Reduced cone and rod ERGs, OD: 0.02, OS: 0.02, Chorioidal sclerosis" "10y" "" "unknown" "" "" "" "" "" "" "" ""
"0000055850" "00058" "00076075" "01695" "Familial, autosomal recessive" "" "cone-rod dystrophy (HP:0000510); Reduced cone and rod ERGs, OD: 0.05, OS: HM, central scotoma, Concentric narrowing" "14y" "" "unknown" "" "" "" "" "" "" "" ""
"0000055851" "00058" "00076076" "01695" "Familial, autosomal recessive" "" "cone-rod dystrophy (HP:0000510); Reduced cone and rod ERGs, OD: 0.05, OS: 0.05, Central scotoma, Concentric narrowing" "2y" "" "unknown" "" "" "" "" "" "" "" ""
"0000055852" "00058" "00076077" "01695" "Familial, autosomal recessive" "" "cone-rod dystrophy (HP:0000510); y28: reduced cone and rod ERGs, OD: 0.02, OS: 0.05, Central scotoma" "10y" "" "unknown" "" "" "" "" "" "" "" ""
"0000055853" "00058" "00076078" "01695" "Familial, autosomal recessive" "" "cone-rod dystrophy (HP:0000510); Reduced cone and rod ERGs, OD: 0.02, OS: 0.05, Central scotoma, Concentric narrowing" "13y" "" "unknown" "" "" "" "" "" "" "" ""
"0000055854" "04213" "00076079" "01695" "Familial, autosomal recessive" "" "cone dystrophy (HP:0000548); Reduced cone ERGs, normal rod ERGs, OD: 0.02, OS: 0.07" "10y" "" "unknown" "" "" "" "" "" "" "" ""
"0000055855" "04213" "00076080" "01695" "Familial, autosomal recessive" "" "cone dystrophy (HP:0000548); Reduced cone ERGs, normal rod ERGs, OD: 0.05, OS: 0.1" "6y" "" "unknown" "" "" "" "" "" "" "" ""
"0000055856" "00058" "00076081" "01695" "Familial, autosomal recessive" "" "cone-rod dystrophy (HP:0000510); Reduced cone and rod ERGs, OD: HM, OS: 0.015, Bone spicules, Widely extinguished visual field with remaining central and ring-shaped peripheral island" "13y" "" "unknown" "" "" "" "" "" "" "" ""
"0000055857" "00058" "00076082" "01695" "Familial, autosomal recessive" "" "cone-rod dystrophy (HP:0000510); Reduced cone and rod ERGs, OD: 0.02, OS: 0.02, Bone spicules" "7y" "" "unknown" "" "" "" "" "" "" "" ""
"0000055858" "00058" "00076083" "01695" "Familial, autosomal recessive" "" "cone-rod dystrophy (HP:0000510); Reduced cone and rod ERGs, OD: CF, OS: CF, Widely extinguished visual field with remaining peripheral island, Severe panretinal atrophy" "12y" "" "unknown" "" "" "" "" "" "" "" ""
"0000055859" "00058" "00076084" "01695" "Familial, autosomal recessive" "" "cone-rod dystrophy (HP:0000510); Reduced cone and rod ERGs, OD: 0.02, OS: LP, Widely extinguished visual field with remaining central and sickle-shaped peripheral island" "9y" "" "unknown" "" "" "" "" "" "" "" ""
"0000055860" "00198" "00076085" "01695" "Familial, autosomal recessive" "" "cone or cone-rod dystrophy; Reduced cone ERGs, normal rod ERGs, OD: 0.6, OS: Central scotoma" "18y" "" "unknown" "" "" "" "" "" "" "" ""
"0000055861" "00058" "00076086" "01695" "Familial, autosomal recessive" "" "cone-rod dystrophy (HP:0000510); Reduced cone and rod ERGs, OD: 0.02, OS: 0.6, Central scotoma, Concentric narrowing" "6y" "" "unknown" "" "" "" "" "" "" "" ""
"0000055862" "00058" "00076087" "01695" "Familial, autosomal recessive" "" "cone-rod dystrophy (HP:0000510); Reduced cone and rod ERGs, OD: 0.6, OS: 0.6, Fundus flavimaculatus" "27y" "" "unknown" "" "" "" "" "" "" "" ""
"0000055863" "04213" "00076088" "01695" "Familial, autosomal recessive" "" "cone dystrophy (HP:0000548); Reduced cone ERGs, normal rod ERGs, OD: 0.1, OS: 0.1, Central scotoma" "7y" "" "unknown" "" "" "" "" "" "" "" ""
"0000055864" "00058" "00076089" "01695" "Familial, autosomal recessive" "" "cone-rod dystrophy (HP:0000510); Reduced cone and rod ERGs, OD: 0.03, OS: 0.03, Central tapetoid reflex, Central scotoma" "7y" "" "unknown" "" "" "" "" "" "" "" ""
"0000055865" "00058" "00076090" "01695" "Familial, autosomal recessive" "" "cone-rod dystrophy (HP:0000510); Reduced cone and rod ERGs, OD: 0.02, OS: 0.02, Central scotoma, Concentric narrowing" "6y" "" "unknown" "" "" "" "" "" "" "" ""
"0000055866" "00058" "00076091" "01695" "Familial, autosomal recessive" "" "cone-rod dystrophy (HP:0000510); Reduced cone and rod ERGs, OD: 0.1, OS: 0.1" "5y" "" "unknown" "" "" "" "" "" "" "" ""
"0000055867" "00198" "00076092" "01695" "Unknown" "" "Autosomal dominant macular dystrophy; Bilateral visual loss and a finding of generally symmetrical macular abnormalities on ophthalmoscopy." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055868" "00198" "00076093" "01695" "Unknown" "" "Autosomal dominant macular dystrophy; Bilateral visual loss and a finding of generally symmetrical macular abnormalities on ophthalmoscopy." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055869" "00198" "00076094" "01695" "Unknown" "" "Autosomal dominant macular dystrophy; Bilateral visual loss and a finding of generally symmetrical macular abnormalities on ophthalmoscopy." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055870" "00058" "00076095" "01695" "Unknown" "" "cone-rod dystrophy (HP:0000510); Initial complaints of blurred central vision without a history of night blindness, poor visual acuity (typically 20/100 or worse, with progressive decline from an early age), impairment of color vision, funduscopic evidence of trophic macular degeneration, peripheral disturbances including pigment clumping and/or pigment epithelial thinning, and greater or earlier loss of cone than rod ERG amplitude." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055871" "00058" "00076096" "01695" "Unknown" "" "cone-rod dystrophy (HP:0000510); Initial complaints of blurred central vision without a history of night blindness, poor visual acuity (typically 20/100 or worse, with progressive decline from an early age), impairment of color vision, funduscopic evidence of trophic macular degeneration, peripheral disturbances including pigment clumping and/or pigment epithelial thinning, and greater or earlier loss of cone than rod ERG amplitude." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055872" "00058" "00076097" "01695" "Unknown" "" "cone-rod dystrophy (HP:0000510); Initial complaints of blurred central vision without a history of night blindness, poor visual acuity (typically 20/100 or worse, with progressive decline from an early age), impairment of color vision, funduscopic evidence of trophic macular degeneration, peripheral disturbances including pigment clumping and/or pigment epithelial thinning, and greater or earlier loss of cone than rod ERG amplitude." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055873" "00058" "00076098" "01695" "Unknown" "" "cone-rod dystrophy (HP:0000510); Initial complaints of blurred central vision without a history of night blindness, poor visual acuity (typically 20/100 or worse, with progressive decline from an early age), impairment of color vision, funduscopic evidence of trophic macular degeneration, peripheral disturbances including pigment clumping and/or pigment epithelial thinning, and greater or earlier loss of cone than rod ERG amplitude." "46y" "" "initial reports of blurred central vision without a history of night blindness" "" "" "" "" "" "" "" ""
"0000055874" "00058" "00076099" "01695" "Unknown" "" "cone-rod dystrophy (HP:0000510); Initial complaints of blurred central vision without a history of night blindness, poor visual acuity (typically 20/100 or worse, with progressive decline from an early age), impairment of color vision, funduscopic evidence of trophic macular degeneration, peripheral disturbances including pigment clumping and/or pigment epithelial thinning, and greater or earlier loss of cone than rod ERG amplitude." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055875" "00058" "00076100" "01695" "Unknown" "" "cone-rod dystrophy (HP:0000510); Initial complaints of blurred central vision without a history of night blindness, poor visual acuity (typically 20/100 or worse, with progressive decline from an early age), impairment of color vision, funduscopic evidence of trophic macular degeneration, peripheral disturbances including pigment clumping and/or pigment epithelial thinning, and greater or earlier loss of cone than rod ERG amplitude." "8y" "" "initial reports of blurred central vision without a history of night blindness" "" "" "" "" "" "" "" ""
"0000055876" "00058" "00076101" "01695" "Unknown" "" "cone-rod dystrophy (HP:0000510); Initial complaints of blurred central vision without a history of night blindness, poor visual acuity (typically 20/100 or worse, with progressive decline from an early age), impairment of color vision, funduscopic evidence of trophic macular degeneration, peripheral disturbances including pigment clumping and/or pigment epithelial thinning, and greater or earlier loss of cone than rod ERG amplitude." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055877" "00058" "00076102" "01695" "Unknown" "" "cone-rod dystrophy (HP:0000510); Initial complaints of blurred central vision without a history of night blindness, poor visual acuity (typically 20/100 or worse, with progressive decline from an early age), impairment of color vision, funduscopic evidence of trophic macular degeneration, peripheral disturbances including pigment clumping and/or pigment epithelial thinning, and greater or earlier loss of cone than rod ERG amplitude." "4y" "" "initial reports of blurred central vision without a history of night blindness" "" "" "" "" "" "" "" ""
"0000055878" "00198" "00076103" "01695" "Unknown" "" "Stargardt disease/Cone-rod dystrophy; Initial complaints of blurred central vision without a history of night blindness, poor visual acuity (typically 20/100 or worse, with progressive decline from an early age), impairment of color vision, funduscopic evidence of trophic macular degeneration, peripheral disturbances including pigment clumping and/or pigment epithelial thinning, and greater or earlier loss of cone than rod ERG amplitude; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "12y" "" "unknown" "" "" "" "" "" "" "" ""
"0000055879" "00058" "00076104" "01695" "Unknown" "" "cone-rod dystrophy (HP:0000510); Initial complaints of blurred central vision without a history of night blindness, poor visual acuity (typically 20/100 or worse, with progressive decline from an early age), impairment of color vision, funduscopic evidence of trophic macular degeneration, peripheral disturbances including pigment clumping and/or pigment epithelial thinning, and greater or earlier loss of cone than rod ERG amplitude." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055880" "00198" "00076105" "01695" "Unknown" "" "Stargardt disease/Cone-rod dystrophy; Initial complaints of blurred central vision without a history of night blindness, poor visual acuity (typically 20/100 or worse, with progressive decline from an early age), impairment of color vision, funduscopic evidence of trophic macular degeneration, peripheral disturbances including pigment clumping and/or pigment epithelial thinning, and greater or earlier loss of cone than rod ERG amplitude." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055881" "00058" "00076106" "01695" "Unknown" "" "cone-rod dystrophy (HP:0000510); Initial complaints of blurred central vision without a history of night blindness, poor visual acuity (typically 20/100 or worse, with progressive decline from an early age), impairment of color vision, funduscopic evidence of trophic macular degeneration, peripheral disturbances including pigment clumping and/or pigment epithelial thinning, and greater or earlier loss of cone than rod ERG amplitude." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055882" "00058" "00076107" "01695" "Unknown" "" "cone-rod dystrophy (HP:0000510); Initial complaints of blurred central vision without a history of night blindness, poor visual acuity (typically 20/100 or worse, with progressive decline from an early age), impairment of color vision, funduscopic evidence of trophic macular degeneration, peripheral disturbances including pigment clumping and/or pigment epithelial thinning, and greater or earlier loss of cone than rod ERG amplitude." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055883" "04214" "00076108" "01695" "Unknown" "" "retinitis pigmentosa; Night blindness early in life with progressive constriction of the visual field. Signs on funduscopic examination included attenuated retinal vessels, depigmentation of the RPE, intraretinal bone spicule pigmentation, and a waxy pallor of the optic disc. The ERG responses had to be decreased in a rod–cone pattern or nonrecordable when the disease had reached its end stage." "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000055884" "04214" "00076109" "01695" "Unknown" "" "retinitis pigmentosa; Night blindness early in life with progressive constriction of the visual field. Signs on funduscopic examination included attenuated retinal vessels, depigmentation of the RPE, intraretinal bone spicule pigmentation, and a waxy pallor of the optic disc. The ERG responses had to be decreased in a rod–cone pattern or nonrecordable when the disease had reached its end stage." "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000055885" "04214" "00076110" "01695" "Unknown" "" "retinitis pigmentosa; Night blindness early in life with progressive constriction of the visual field. Signs on funduscopic examination included attenuated retinal vessels, depigmentation of the RPE, intraretinal bone spicule pigmentation, and a waxy pallor of the optic disc. The ERG responses had to be decreased in a rod–cone pattern or nonrecordable when the disease had reached its end stage." "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000055886" "04214" "00076111" "01695" "Unknown" "" "retinitis pigmentosa; Night blindness early in life with progressive constriction of the visual field. Signs on funduscopic examination included attenuated retinal vessels, depigmentation of the RPE, intraretinal bone spicule pigmentation, and a waxy pallor of the optic disc. The ERG responses had to be decreased in a rod–cone pattern or nonrecordable when the disease had reached its end stage." "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000055887" "04214" "00076112" "01695" "Unknown" "" "retinitis pigmentosa; Night blindness early in life with progressive constriction of the visual field. Signs on funduscopic examination included attenuated retinal vessels, depigmentation of the RPE, intraretinal bone spicule pigmentation, and a waxy pallor of the optic disc. The ERG responses had to be decreased in a rod–cone pattern or nonrecordable when the disease had reached its end stage." "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000055888" "04214" "00076113" "01695" "Unknown" "" "retinitis pigmentosa; Night blindness early in life with progressive constriction of the visual field. Signs on funduscopic examination included attenuated retinal vessels, depigmentation of the RPE, intraretinal bone spicule pigmentation, and a waxy pallor of the optic disc. The ERG responses had to be decreased in a rod–cone pattern or nonrecordable when the disease had reached its end stage." "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000055889" "04214" "00076114" "01695" "Unknown" "" "retinitis pigmentosa; Night blindness early in life with progressive constriction of the visual field. Signs on funduscopic examination included attenuated retinal vessels, depigmentation of the RPE, intraretinal bone spicule pigmentation, and a waxy pallor of the optic disc. The ERG responses had to be decreased in a rod–cone pattern or nonrecordable when the disease had reached its end stage." "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000055890" "04214" "00076115" "01695" "Unknown" "" "retinitis pigmentosa; Night blindness early in life with progressive constriction of the visual field. Signs on funduscopic examination included attenuated retinal vessels, depigmentation of the RPE, intraretinal bone spicule pigmentation, and a waxy pallor of the optic disc. The ERG responses had to be decreased in a rod–cone pattern or nonrecordable when the disease had reached its end stage." "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000055891" "00420" "00076116" "01695" "Familial, autosomal recessive" "" "Stargardt disease; The ocular findings in early stages of disease resemble those of typical Stargardt, mainly involving the macula, with a resultant reduction of central acuity and impaired color vision appearing toward the end of the first decade of life. Visual acuity (VA) after 10 years of age was 6/30 or worse. The disease progressed to a severe, widespread retinal degeneration, beyond involvement of the macular region alone. y40, fundus findings remained localized to the macular area, which had a typical Stargardt-like appearance." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055892" "00420" "00076117" "01695" "Familial, autosomal recessive" "" "Stargardt disease; The ocular findings in early stages of disease resemble those of typical Stargardt, mainly involving the macula, with a resultant reduction of central acuity and impaired color vision appearing toward the end of the first decade of life. Visual acuity (VA) after 10 years of age was 6/30 or worse. The fullfield cone-flicker ERG (age 20) was delayed and amplitudes were still within normal limits, whereas the response of the foveal cones was severely reduced and delayed." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055893" "00420" "00076118" "01695" "Familial, autosomal recessive" "" "Stargardt disease; The ocular findings in early stages of disease resemble those of typical Stargardt, mainly involving the macula, with a resultant reduction of central acuity and impaired color vision appearing toward the end of the first decade of life. Visual acuity (VA) after 10 years of age was 6/30 or worse. The fullfield cone-flicker ERG (age 20) was delayed and amplitudes were still within normal limits, whereas the response of the foveal cones was severely reduced and delayed." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055894" "00420" "00076119" "01695" "Familial, autosomal recessive" "" "Stargardt disease; The ocular findings in early stages of disease resemble those of typical Stargardt, mainly involving the macula, with a resultant reduction of central acuity and impaired color vision appearing toward the end of the first decade of life. Visual acuity (VA) after 10 years of age was 6/30 or worse. The fullfield cone-flicker ERG (age 20) was delayed and amplitudes were still within normal limits, whereas the response of the foveal cones was severely reduced and delayed." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055895" "00420" "00076120" "01695" "Familial, autosomal recessive" "" "Stargardt disease; The ocular findings in early stages of disease resemble those of typical Stargardt, mainly involving the macula, with a resultant reduction of central acuity and impaired color vision appearing toward the end of the first decade of life. Visual acuity (VA) after 10 years of age was 6/30 or worse. The fullfield cone-flicker ERG (age 20) was delayed and amplitudes were still within normal limits, whereas the response of the foveal cones was severely reduced and delayed." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055896" "00420" "00076121" "01695" "Familial, autosomal recessive" "" "Stargardt disease; The ocular findings in early stages of disease resemble those of typical Stargardt, mainly involving the macula, with a resultant reduction of central acuity and impaired color vision appearing toward the end of the first decade of life. Visual acuity (VA) after 10 years of age was 6/30 or worse. The fullfield cone-flicker ERG (age 20) was delayed and amplitudes were still within normal limits, whereas the response of the foveal cones was severely reduced and delayed." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055897" "00420" "00076122" "01695" "Familial, autosomal recessive" "" "Stargardt disease; The ocular findings in early stages of disease resemble those of typical Stargardt, mainly involving the macula, with a resultant reduction of central acuity and impaired color vision appearing toward the end of the first decade of life. Visual acuity (VA) after 10 years of age was 6/30 or worse. The fullfield cone-flicker ERG (age 20) was delayed and amplitudes were still within normal limits, whereas the response of the foveal cones was severely reduced and delayed." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055898" "00420" "00076123" "01695" "Familial, autosomal recessive" "" "Stargardt disease; The ocular findings in early stages of disease resemble those of typical Stargardt, mainly involving the macula, with a resultant reduction of central acuity and impaired color vision appearing toward the end of the first decade of life. Visual acuity (VA) after 10 years of age was 6/30 or worse. The fullfield cone-flicker ERG (age 20) was delayed and amplitudes were still within normal limits, whereas the response of the foveal cones was severely reduced and delayed." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055899" "00420" "00076124" "01695" "Familial, autosomal recessive" "" "Stargardt disease; The ocular findings in early stages of disease resemble those of typical Stargardt, mainly involving the macula, with a resultant reduction of central acuity and impaired color vision appearing toward the end of the first decade of life. Visual acuity (VA) after 10 years of age was 6/30 or worse. The fullfield cone-flicker ERG (age 20) was delayed and amplitudes were still within normal limits, whereas the response of the foveal cones was severely reduced and delayed." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055900" "00420" "00076125" "01695" "Familial, autosomal recessive" "" "Stargardt disease; The ocular findings in early stages of disease resemble those of typical Stargardt, mainly involving the macula, with a resultant reduction of central acuity and impaired color vision appearing toward the end of the first decade of life. Visual acuity (VA) after 10 years of age was 6/30 or worse. The fullfield cone-flicker ERG (age 20) was delayed and amplitudes were still within normal limits, whereas the response of the foveal cones was severely reduced and delayed." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055901" "00420" "00076126" "01695" "Familial, autosomal recessive" "" "Stargardt disease; The ocular findings in early stages of disease resemble those of typical Stargardt, mainly involving the macula, with a resultant reduction of central acuity and impaired color vision appearing toward the end of the first decade of life. Visual acuity (VA) after 10 years of age was 6/30 or worse. The fullfield cone-flicker ERG (age 20) was delayed and amplitudes were still within normal limits, whereas the response of the foveal cones was severely reduced and delayed." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055902" "00420" "00076127" "01695" "Familial, autosomal recessive" "" "Stargardt disease; The ocular findings in early stages of disease resemble those of typical Stargardt, mainly involving the macula, with a resultant reduction of central acuity and impaired color vision appearing toward the end of the first decade of life. Visual acuity (VA) after 10 years of age was 6/30 or worse. The fullfield cone-flicker ERG (age 20) was delayed and amplitudes were still within normal limits, whereas the response of the foveal cones was severely reduced and delayed." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055903" "00420" "00076128" "01695" "Familial, autosomal recessive" "" "Stargardt disease; The ocular findings in early stages of disease resemble those of typical Stargardt, mainly involving the macula, with a resultant reduction of central acuity and impaired color vision appearing toward the end of the first decade of life. Visual acuity (VA) after 10 years of age was 6/30 or worse. The fullfield cone-flicker ERG (age 20) was delayed and amplitudes were still within normal limits, whereas the response of the foveal cones was severely reduced and delayed." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055904" "00420" "00076129" "01695" "Familial, autosomal recessive" "" "Stargardt disease; The ocular findings in early stages of disease resemble those of typical Stargardt, mainly involving the macula, with a resultant reduction of central acuity and impaired color vision appearing toward the end of the first decade of life. Visual acuity (VA) after 10 years of age was 6/30 or worse. The fullfield cone-flicker ERG (age 20) was delayed and amplitudes were still within normal limits, whereas the response of the foveal cones was severely reduced and delayed." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055905" "00420" "00076130" "01695" "Familial, autosomal recessive" "" "Stargardt disease; The ocular findings in early stages of disease resemble those of typical Stargardt, mainly involving the macula, with a resultant reduction of central acuity and impaired color vision appearing toward the end of the first decade of life. Visual acuity (VA) after 10 years of age was 6/30 or worse. The fullfield cone-flicker ERG (age 20) was delayed and amplitudes were still within normal limits, whereas the response of the foveal cones was severely reduced and delayed." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055906" "00058" "00076131" "01695" "Familial, autosomal recessive" "" "cone-rod dystrophy (HP:0000510); Visual acuity difficulties since early childhood followed by peripheral field loss in the second decade. Night blindness occurred in the third decade. Funduscopy revealed pale optic disks with severely attenuated retinal vessels. Distinct atrophy of the RPE in the macular area. Bone spicule pigmentations were evident throughout the retina. On ERG, no detectable signals were found." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055907" "00058" "00076132" "01695" "Familial, autosomal recessive" "" "cone-rod dystrophy (HP:0000510); Visual acuity difficulties since early childhood followed by peripheral field loss in the second decade. Night blindness occurred in the third decade. Funduscopy revealed pale optic disks with severely attenuated retinal vessels. Distinct atrophy of the RPE in the macular area. Bone spicule pigmentations were limited to the posterior pole and midperiphery. On ERG, no detectable signals were found." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055908" "00058" "00076133" "01695" "Familial, autosomal recessive" "" "cone-rod dystrophy (HP:0000510); Visual acuity difficulties since early childhood followed by peripheral field loss in the second decade. Night blindness occurred in the third decade. Funduscopy revealed pale optic disks with severely attenuated retinal vessels. Heavy bone spicule pigmentation throughout the entire retina with extensive macular involvement. On ERG, no detectable signals were found." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055909" "00420" "00076134" "01695" "Familial, autosomal recessive" "" "Stargardt disease; At 52 years, visual acuity of the right eye was counting fingers whereas visual acuity of her left eye was hand movements. Funduscopy revealed normal optic disks, mild attenuation of the vessels, and large atrophic lesions in both maculae. Lobular atrophy of the RPE was seen in the mid and peripheral regions." "11y" "" "unknown" "" "" "" "" "" "" "" ""
"0000055910" "00198" "00076135" "01695" "Unknown" "" "Stargardt disease or fundus flavimaculatus; Abundant fish-tail-like yellowish flecks outside the foveal area with foveal atrophy of RPE" "9y" "" "unknown" "" "" "" "" "" "" "" ""
"0000055911" "00198" "00076136" "01695" "Unknown" "" "Stargardt disease or fundus flavimaculatus; Abundant fish-tail-like yellowish flecks outside the foveal area with foveal atrophy of RPE" "9y" "" "unknown" "" "" "" "" "" "" "" ""
"0000055912" "00198" "00076137" "01695" "Unknown" "" "Stargardt disease or fundus flavimaculatus; Abundant fish-tail-like yellowish flecks outside the foveal area with foveal atrophy of RPE" "13y" "" "unknown" "" "" "" "" "" "" "" ""
"0000055913" "00198" "00076138" "01695" "Unknown" "" "Stargardt disease or fundus flavimaculatus; Abundant fish-tail-like yellowish flecks outside the foveal area with foveal atrophy of RPE" "20y" "" "unknown" "" "" "" "" "" "" "" ""
"0000055914" "00198" "00076139" "01695" "Unknown" "" "Stargardt disease or fundus flavimaculatus; Abundant fish-tail-like yellowish flecks outside the foveal area with foveal atrophy of RPE" "25y" "" "unknown" "" "" "" "" "" "" "" ""
"0000055915" "00198" "00076140" "01695" "Unknown" "" "Stargardt disease or fundus flavimaculatus; Abundant fish-tail-like yellowish flecks outside the foveal area with foveal atrophy of RPE" "33y" "" "unknown" "" "" "" "" "" "" "" ""
"0000055916" "00198" "00076141" "01695" "Unknown" "" "Stargardt disease or fundus flavimaculatus; Abundant fish-tail-like yellowish flecks outside the foveal area with foveal atrophy of RPE" "27y" "" "unknown" "" "" "" "" "" "" "" ""
"0000055917" "00198" "00076142" "01695" "Unknown" "" "Stargardt disease or fundus flavimaculatus; Abundant fish-tail-like yellowish flecks outside the foveal area with foveal atrophy of RPE" "15y" "" "unknown" "" "" "" "" "" "" "" ""
"0000055918" "00198" "00076143" "01695" "Unknown" "" "Stargardt disease or fundus flavimaculatus; Abundant fish-tail-like yellowish flecks outside the foveal area with foveal atrophy of RPE" "5y" "" "unknown" "" "" "" "" "" "" "" ""
"0000055919" "00198" "00076144" "01695" "Unknown" "" "Stargardt disease or fundus flavimaculatus; Abundant fish-tail-like yellowish flecks outside the foveal area with foveal atrophy of RPE" "14y" "" "unknown" "" "" "" "" "" "" "" ""
"0000055920" "00198" "00076145" "01695" "Unknown" "" "Stargardt disease or fundus flavimaculatus; Abundant fish-tail-like yellowish flecks outside the foveal area with foveal atrophy of RPE" "8y" "" "unknown" "" "" "" "" "" "" "" ""
"0000055921" "00198" "00076146" "01695" "Unknown" "" "Stargardt disease or fundus flavimaculatus; Abundant fish-tail-like yellowish flecks outside the foveal area with foveal atrophy of RPE" "34y" "" "unknown" "" "" "" "" "" "" "" ""
"0000055922" "00198" "00076147" "01695" "Unknown" "" "Stargardt disease or fundus flavimaculatus; Abundant fish-tail-like yellowish flecks outside the foveal area with foveal atrophy of RPE" "8y" "" "unknown" "" "" "" "" "" "" "" ""
"0000055923" "00198" "00076148" "01695" "Unknown" "" "Stargardt disease or fundus flavimaculatus; Abundant fish-tail-like yellowish flecks outside the foveal area with foveal atrophy of RPE" "9y" "" "unknown" "" "" "" "" "" "" "" ""
"0000055924" "00198" "00076149" "01695" "Unknown" "" "Stargardt disease or fundus flavimaculatus; Abundant fish-tail-like yellowish flecks outside the foveal area with foveal atrophy of RPE" "11y" "" "unknown" "" "" "" "" "" "" "" ""
"0000055925" "00198" "00076150" "01695" "Unknown" "" "Stargardt disease or fundus flavimaculatus; Abundant fish-tail-like yellowish flecks outside the foveal area with foveal atrophy of RPE" "15y" "" "unknown" "" "" "" "" "" "" "" ""
"0000055926" "00198" "00076151" "01695" "Unknown" "" "Stargardt disease or fundus flavimaculatus; Abundant fish-tail-like yellowish flecks outside the foveal area with foveal atrophy of RPE" "19y" "" "unknown" "" "" "" "" "" "" "" ""
"0000055927" "00198" "00076152" "01695" "Unknown" "" "Central and peripheral RPE-choriocapillaris atrophy; Ill-defined macular RPE-atrophy with coarse hyperpigmentation and peripheral atrophic RPE speckles and/or webs" "11y" "" "unknown" "" "" "" "" "" "" "" ""
"0000055928" "00198" "00076153" "01695" "Unknown" "" "Atypical Retinitis pigmentosa (choroidoretinal photoreceptor dystrophy); Diffuse choroidoretinal dystrophy with narrow arterioles, constricted visual fields and severely reduced full-field ERG rod and cone responses" "10y" "" "unknown" "" "" "" "" "" "" "" ""
"0000055929" "00198" "00076154" "01695" "Unknown" "" "Atypical Retinitis pigmentosa (choroidoretinal photoreceptor dystrophy); Diffuse choroidoretinal dystrophy with narrow arterioles, constricted visual fields and severely reduced full-field ERG rod and cone responses" "11y" "" "unknown" "" "" "" "" "" "" "" ""
"0000055930" "00198" "00076155" "01695" "Unknown" "" "Atypical Retinitis pigmentosa (choroidoretinal photoreceptor dystrophy); Diffuse choroidoretinal dystrophy with narrow arterioles, constricted visual fields and severely reduced full-field ERG rod and cone responses" "18y" "" "unknown" "" "" "" "" "" "" "" ""
"0000055931" "00198" "00076156" "01695" "Unknown" "" "Atypical Retinitis pigmentosa (choroidoretinal photoreceptor dystrophy); Diffuse choroidoretinal dystrophy with narrow arterioles, constricted visual fields and severely reduced full-field ERG rod and cone responses" "8y" "" "unknown" "" "" "" "" "" "" "" ""
"0000055932" "00198" "00076157" "01695" "Unknown" "" "Atypical Retinitis pigmentosa (choroidoretinal photoreceptor dystrophy); Diffuse choroidoretinal dystrophy with narrow arterioles, constricted visual fields and severely reduced full-field ERG rod and cone responses" "39y" "" "unknown" "" "" "" "" "" "" "" ""
"0000055933" "00198" "00076158" "01695" "Unknown" "" "Atypical Retinitis pigmentosa (choroidoretinal photoreceptor dystrophy); Diffuse choroidoretinal dystrophy with narrow arterioles, constricted visual fields and severely reduced full-field ERG rod and cone responses" "18y" "" "unknown" "" "" "" "" "" "" "" ""
"0000055934" "00198" "00076159" "01695" "Unknown" "" "Atypical Retinitis pigmentosa (choroidoretinal photoreceptor dystrophy); Diffuse choroidoretinal dystrophy with narrow arterioles, constricted visual fields and severely reduced full-field ERG rod and cone responses" "7y" "" "unknown" "" "" "" "" "" "" "" ""
"0000055935" "00198" "00076160" "01695" "Unknown" "" "Atypical Retinitis pigmentosa (choroidoretinal photoreceptor dystrophy); Diffuse choroidoretinal dystrophy with narrow arterioles, constricted visual fields and severely reduced full-field ERG rod and cone responses" "11y" "" "unknown" "" "" "" "" "" "" "" ""
"0000055936" "00058" "00076161" "01695" "Unknown" "" "cone-rod dystrophy (HP:0000510); Foveal RPE atrophy with early predominant cone affection of the full-field ERG" "13y" "" "unknown" "" "" "" "" "" "" "" ""
"0000055937" "00198" "00076162" "01695" "Unknown" "" "bull\'s eye maculopathy; Foveal bull’s eye lesion without flecks, varied involvement of peripheral RPE atrophy and normal or subnormal full-field ERG" "13y" "" "unknown" "" "" "" "" "" "" "" ""
"0000055938" "00198" "00076163" "01695" "Unknown" "" "Stargardt maculopathy or Stargardt-flavimaculatus or Fundus flavimaculatus or central and peripheral RPE-choriocapillaris atrophy or atypical Retinitis pigmentosa (choroidoretinal photoreceptor dystrophy) or cone-rod dystrophy or bull\'s eye maculopathy; Oval-shaped RPE irregularity and thinning,“beaten bronze” reflexes, and perifoveal yellow-grey flecks/ Abundant fish-tail-like yellowish flecks outside the foveal area with foveal atrophy of RPE/Ill-defined macular RPE-atrophy with coarse hyperpigmentation and peripheral atrophic RPE speckles and/or webs/Diffuse choroidoretinal dystrophy with narrow arterioles, constricted visual fields and severely reduced full-field ERG rod and cone responses/Foveal RPE atrophy with early predominant cone affection of the full-field ERG/Foveal bull’s eye lesion without flecks varied involvement of Peripheral RPE atrophy And normal or subnormal full-field ERG/Unspecified maculopathy Foveal RPE atrophy without flecks and without significant ERG changes" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055939" "00198" "00076164" "01695" "Unknown" "" "Stargardt maculopathy or Stargardt-flavimaculatus or Fundus flavimaculatus or central and peripheral RPE-choriocapillaris atrophy or atypical Retinitis pigmentosa (choroidoretinal photoreceptor dystrophy) or cone-rod dystrophy or bull\'s eye maculopathy; Oval-shaped RPE irregularity and thinning,“beaten bronze” reflexes, and perifoveal yellow-grey flecks/ Abundant fish-tail-like yellowish flecks outside the foveal area with foveal atrophy of RPE/Ill-defined macular RPE-atrophy with coarse hyperpigmentation and peripheral atrophic RPE speckles and/or webs/Diffuse choroidoretinal dystrophy with narrow arterioles, constricted visual fields and severely reduced full-field ERG rod and cone responses/Foveal RPE atrophy with early predominant cone affection of the full-field ERG/Foveal bull’s eye lesion without flecks varied involvement of Peripheral RPE atrophy And normal or subnormal full-field ERG/Unspecified maculopathy Foveal RPE atrophy without flecks and without significant ERG changes" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055940" "00198" "00076165" "01695" "Unknown" "" "Stargardt maculopathy or Stargardt-flavimaculatus or Fundus flavimaculatus or central and peripheral RPE-choriocapillaris atrophy or atypical Retinitis pigmentosa (choroidoretinal photoreceptor dystrophy) or cone-rod dystrophy or bull\'s eye maculopathy; Oval-shaped RPE irregularity and thinning,“beaten bronze” reflexes, and perifoveal yellow-grey flecks/ Abundant fish-tail-like yellowish flecks outside the foveal area with foveal atrophy of RPE/Ill-defined macular RPE-atrophy with coarse hyperpigmentation and peripheral atrophic RPE speckles and/or webs/Diffuse choroidoretinal dystrophy with narrow arterioles, constricted visual fields and severely reduced full-field ERG rod and cone responses/Foveal RPE atrophy with early predominant cone affection of the full-field ERG/Foveal bull’s eye lesion without flecks varied involvement of Peripheral RPE atrophy And normal or subnormal full-field ERG/Unspecified maculopathy Foveal RPE atrophy without flecks and without significant ERG changes" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055941" "00198" "00076166" "01695" "Unknown" "" "Stargardt maculopathy or Stargardt-flavimaculatus or Fundus flavimaculatus or central and peripheral RPE-choriocapillaris atrophy or atypical Retinitis pigmentosa (choroidoretinal photoreceptor dystrophy) or cone-rod dystrophy or bull\'s eye maculopathy; Oval-shaped RPE irregularity and thinning,“beaten bronze” reflexes, and perifoveal yellow-grey flecks/ Abundant fish-tail-like yellowish flecks outside the foveal area with foveal atrophy of RPE/Ill-defined macular RPE-atrophy with coarse hyperpigmentation and peripheral atrophic RPE speckles and/or webs/Diffuse choroidoretinal dystrophy with narrow arterioles, constricted visual fields and severely reduced full-field ERG rod and cone responses/Foveal RPE atrophy with early predominant cone affection of the full-field ERG/Foveal bull’s eye lesion without flecks varied involvement of Peripheral RPE atrophy And normal or subnormal full-field ERG/Unspecified maculopathy Foveal RPE atrophy without flecks and without significant ERG changes" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055942" "00198" "00076167" "01695" "Unknown" "" "Stargardt maculopathy or Stargardt-flavimaculatus or Fundus flavimaculatus or central and peripheral RPE-choriocapillaris atrophy or atypical Retinitis pigmentosa (choroidoretinal photoreceptor dystrophy) or cone-rod dystrophy or bull\'s eye maculopathy; Oval-shaped RPE irregularity and thinning,“beaten bronze” reflexes, and perifoveal yellow-grey flecks/ Abundant fish-tail-like yellowish flecks outside the foveal area with foveal atrophy of RPE/Ill-defined macular RPE-atrophy with coarse hyperpigmentation and peripheral atrophic RPE speckles and/or webs/Diffuse choroidoretinal dystrophy with narrow arterioles, constricted visual fields and severely reduced full-field ERG rod and cone responses/Foveal RPE atrophy with early predominant cone affection of the full-field ERG/Foveal bull’s eye lesion without flecks varied involvement of Peripheral RPE atrophy And normal or subnormal full-field ERG/Unspecified maculopathy Foveal RPE atrophy without flecks and without significant ERG changes" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055943" "00198" "00076168" "01695" "Unknown" "" "Stargardt maculopathy or Stargardt-flavimaculatus or Fundus flavimaculatus or central and peripheral RPE-choriocapillaris atrophy or atypical Retinitis pigmentosa (choroidoretinal photoreceptor dystrophy) or cone-rod dystrophy or bull\'s eye maculopathy; Oval-shaped RPE irregularity and thinning,“beaten bronze” reflexes, and perifoveal yellow-grey flecks/ Abundant fish-tail-like yellowish flecks outside the foveal area with foveal atrophy of RPE/Ill-defined macular RPE-atrophy with coarse hyperpigmentation and peripheral atrophic RPE speckles and/or webs/Diffuse choroidoretinal dystrophy with narrow arterioles, constricted visual fields and severely reduced full-field ERG rod and cone responses/Foveal RPE atrophy with early predominant cone affection of the full-field ERG/Foveal bull’s eye lesion without flecks varied involvement of Peripheral RPE atrophy And normal or subnormal full-field ERG/Unspecified maculopathy Foveal RPE atrophy without flecks and without significant ERG changes" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055944" "00198" "00076169" "01695" "Unknown" "" "Stargardt maculopathy or Stargardt-flavimaculatus or Fundus flavimaculatus or central and peripheral RPE-choriocapillaris atrophy or atypical Retinitis pigmentosa (choroidoretinal photoreceptor dystrophy) or cone-rod dystrophy or bull\'s eye maculopathy; Oval-shaped RPE irregularity and thinning,“beaten bronze” reflexes, and perifoveal yellow-grey flecks/ Abundant fish-tail-like yellowish flecks outside the foveal area with foveal atrophy of RPE/Ill-defined macular RPE-atrophy with coarse hyperpigmentation and peripheral atrophic RPE speckles and/or webs/Diffuse choroidoretinal dystrophy with narrow arterioles, constricted visual fields and severely reduced full-field ERG rod and cone responses/Foveal RPE atrophy with early predominant cone affection of the full-field ERG/Foveal bull’s eye lesion without flecks varied involvement of Peripheral RPE atrophy And normal or subnormal full-field ERG/Unspecified maculopathy Foveal RPE atrophy without flecks and without significant ERG changes" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055945" "00198" "00076170" "01695" "Unknown" "" "Stargardt maculopathy or Stargardt-flavimaculatus or Fundus flavimaculatus or central and peripheral RPE-choriocapillaris atrophy or atypical Retinitis pigmentosa (choroidoretinal photoreceptor dystrophy) or cone-rod dystrophy or bull\'s eye maculopathy; Oval-shaped RPE irregularity and thinning,“beaten bronze” reflexes, and perifoveal yellow-grey flecks/ Abundant fish-tail-like yellowish flecks outside the foveal area with foveal atrophy of RPE/Ill-defined macular RPE-atrophy with coarse hyperpigmentation and peripheral atrophic RPE speckles and/or webs/Diffuse choroidoretinal dystrophy with narrow arterioles, constricted visual fields and severely reduced full-field ERG rod and cone responses/Foveal RPE atrophy with early predominant cone affection of the full-field ERG/Foveal bull’s eye lesion without flecks varied involvement of Peripheral RPE atrophy And normal or subnormal full-field ERG/Unspecified maculopathy Foveal RPE atrophy without flecks and without significant ERG changes" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055946" "00198" "00076171" "01695" "Unknown" "" "Stargardt maculopathy or Stargardt-flavimaculatus or Fundus flavimaculatus or central and peripheral RPE-choriocapillaris atrophy or atypical Retinitis pigmentosa (choroidoretinal photoreceptor dystrophy) or cone-rod dystrophy or bull\'s eye maculopathy; Oval-shaped RPE irregularity and thinning,“beaten bronze” reflexes, and perifoveal yellow-grey flecks/ Abundant fish-tail-like yellowish flecks outside the foveal area with foveal atrophy of RPE/Ill-defined macular RPE-atrophy with coarse hyperpigmentation and peripheral atrophic RPE speckles and/or webs/Diffuse choroidoretinal dystrophy with narrow arterioles, constricted visual fields and severely reduced full-field ERG rod and cone responses/Foveal RPE atrophy with early predominant cone affection of the full-field ERG/Foveal bull’s eye lesion without flecks varied involvement of Peripheral RPE atrophy And normal or subnormal full-field ERG/Unspecified maculopathy Foveal RPE atrophy without flecks and without significant ERG changes" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055947" "00198" "00076172" "01695" "Unknown" "" "Stargardt maculopathy or Stargardt-flavimaculatus or Fundus flavimaculatus or central and peripheral RPE-choriocapillaris atrophy or atypical Retinitis pigmentosa (choroidoretinal photoreceptor dystrophy) or cone-rod dystrophy or bull\'s eye maculopathy; Oval-shaped RPE irregularity and thinning,“beaten bronze” reflexes, and perifoveal yellow-grey flecks/ Abundant fish-tail-like yellowish flecks outside the foveal area with foveal atrophy of RPE/Ill-defined macular RPE-atrophy with coarse hyperpigmentation and peripheral atrophic RPE speckles and/or webs/Diffuse choroidoretinal dystrophy with narrow arterioles, constricted visual fields and severely reduced full-field ERG rod and cone responses/Foveal RPE atrophy with early predominant cone affection of the full-field ERG/Foveal bull’s eye lesion without flecks varied involvement of Peripheral RPE atrophy And normal or subnormal full-field ERG/Unspecified maculopathy Foveal RPE atrophy without flecks and without significant ERG changes" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055948" "00198" "00076173" "01695" "Unknown" "" "Stargardt maculopathy or Stargardt-flavimaculatus or Fundus flavimaculatus or central and peripheral RPE-choriocapillaris atrophy or atypical Retinitis pigmentosa (choroidoretinal photoreceptor dystrophy) or cone-rod dystrophy or bull\'s eye maculopathy; Oval-shaped RPE irregularity and thinning,“beaten bronze” reflexes, and perifoveal yellow-grey flecks/ Abundant fish-tail-like yellowish flecks outside the foveal area with foveal atrophy of RPE/Ill-defined macular RPE-atrophy with coarse hyperpigmentation and peripheral atrophic RPE speckles and/or webs/Diffuse choroidoretinal dystrophy with narrow arterioles, constricted visual fields and severely reduced full-field ERG rod and cone responses/Foveal RPE atrophy with early predominant cone affection of the full-field ERG/Foveal bull’s eye lesion without flecks varied involvement of Peripheral RPE atrophy And normal or subnormal full-field ERG/Unspecified maculopathy Foveal RPE atrophy without flecks and without significant ERG changes" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055949" "00198" "00076174" "01695" "Unknown" "" "Stargardt maculopathy or Stargardt-flavimaculatus or Fundus flavimaculatus or central and peripheral RPE-choriocapillaris atrophy or atypical Retinitis pigmentosa (choroidoretinal photoreceptor dystrophy) or cone-rod dystrophy or bull\'s eye maculopathy; Oval-shaped RPE irregularity and thinning,“beaten bronze” reflexes, and perifoveal yellow-grey flecks/ Abundant fish-tail-like yellowish flecks outside the foveal area with foveal atrophy of RPE/Ill-defined macular RPE-atrophy with coarse hyperpigmentation and peripheral atrophic RPE speckles and/or webs/Diffuse choroidoretinal dystrophy with narrow arterioles, constricted visual fields and severely reduced full-field ERG rod and cone responses/Foveal RPE atrophy with early predominant cone affection of the full-field ERG/Foveal bull’s eye lesion without flecks varied involvement of Peripheral RPE atrophy And normal or subnormal full-field ERG/Unspecified maculopathy Foveal RPE atrophy without flecks and without significant ERG changes" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055950" "00198" "00076175" "01695" "Unknown" "" "Stargardt maculopathy or Stargardt-flavimaculatus or Fundus flavimaculatus or central and peripheral RPE-choriocapillaris atrophy or atypical Retinitis pigmentosa (choroidoretinal photoreceptor dystrophy) or cone-rod dystrophy or bull\'s eye maculopathy; Oval-shaped RPE irregularity and thinning,“beaten bronze” reflexes, and perifoveal yellow-grey flecks/ Abundant fish-tail-like yellowish flecks outside the foveal area with foveal atrophy of RPE/Ill-defined macular RPE-atrophy with coarse hyperpigmentation and peripheral atrophic RPE speckles and/or webs/Diffuse choroidoretinal dystrophy with narrow arterioles, constricted visual fields and severely reduced full-field ERG rod and cone responses/Foveal RPE atrophy with early predominant cone affection of the full-field ERG/Foveal bull’s eye lesion without flecks varied involvement of Peripheral RPE atrophy And normal or subnormal full-field ERG/Unspecified maculopathy Foveal RPE atrophy without flecks and without significant ERG changes" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055951" "00198" "00076176" "01695" "Unknown" "" "Stargardt maculopathy or Stargardt-flavimaculatus or Fundus flavimaculatus or central and peripheral RPE-choriocapillaris atrophy or atypical Retinitis pigmentosa (choroidoretinal photoreceptor dystrophy) or cone-rod dystrophy or bull\'s eye maculopathy; Oval-shaped RPE irregularity and thinning,“beaten bronze” reflexes, and perifoveal yellow-grey flecks/ Abundant fish-tail-like yellowish flecks outside the foveal area with foveal atrophy of RPE/Ill-defined macular RPE-atrophy with coarse hyperpigmentation and peripheral atrophic RPE speckles and/or webs/Diffuse choroidoretinal dystrophy with narrow arterioles, constricted visual fields and severely reduced full-field ERG rod and cone responses/Foveal RPE atrophy with early predominant cone affection of the full-field ERG/Foveal bull’s eye lesion without flecks varied involvement of Peripheral RPE atrophy And normal or subnormal full-field ERG/Unspecified maculopathy Foveal RPE atrophy without flecks and without significant ERG changes" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055952" "00198" "00076177" "01695" "Unknown" "" "Stargardt maculopathy or Stargardt-flavimaculatus or Fundus flavimaculatus or central and peripheral RPE-choriocapillaris atrophy or atypical Retinitis pigmentosa (choroidoretinal photoreceptor dystrophy) or cone-rod dystrophy or bull\'s eye maculopathy; Oval-shaped RPE irregularity and thinning,“beaten bronze” reflexes, and perifoveal yellow-grey flecks/ Abundant fish-tail-like yellowish flecks outside the foveal area with foveal atrophy of RPE/Ill-defined macular RPE-atrophy with coarse hyperpigmentation and peripheral atrophic RPE speckles and/or webs/Diffuse choroidoretinal dystrophy with narrow arterioles, constricted visual fields and severely reduced full-field ERG rod and cone responses/Foveal RPE atrophy with early predominant cone affection of the full-field ERG/Foveal bull’s eye lesion without flecks varied involvement of Peripheral RPE atrophy And normal or subnormal full-field ERG/Unspecified maculopathy Foveal RPE atrophy without flecks and without significant ERG changes" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055953" "00198" "00076178" "01695" "Unknown" "" "Stargardt maculopathy or Stargardt-flavimaculatus or Fundus flavimaculatus or central and peripheral RPE-choriocapillaris atrophy or atypical Retinitis pigmentosa (choroidoretinal photoreceptor dystrophy) or cone-rod dystrophy or bull\'s eye maculopathy; Oval-shaped RPE irregularity and thinning,“beaten bronze” reflexes, and perifoveal yellow-grey flecks/ Abundant fish-tail-like yellowish flecks outside the foveal area with foveal atrophy of RPE/Ill-defined macular RPE-atrophy with coarse hyperpigmentation and peripheral atrophic RPE speckles and/or webs/Diffuse choroidoretinal dystrophy with narrow arterioles, constricted visual fields and severely reduced full-field ERG rod and cone responses/Foveal RPE atrophy with early predominant cone affection of the full-field ERG/Foveal bull’s eye lesion without flecks varied involvement of Peripheral RPE atrophy And normal or subnormal full-field ERG/Unspecified maculopathy Foveal RPE atrophy without flecks and without significant ERG changes" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055954" "00198" "00076179" "01695" "Unknown" "" "Stargardt maculopathy or Stargardt-flavimaculatus or Fundus flavimaculatus or central and peripheral RPE-choriocapillaris atrophy or atypical Retinitis pigmentosa (choroidoretinal photoreceptor dystrophy) or cone-rod dystrophy or bull\'s eye maculopathy; Oval-shaped RPE irregularity and thinning,“beaten bronze” reflexes, and perifoveal yellow-grey flecks/ Abundant fish-tail-like yellowish flecks outside the foveal area with foveal atrophy of RPE/Ill-defined macular RPE-atrophy with coarse hyperpigmentation and peripheral atrophic RPE speckles and/or webs/Diffuse choroidoretinal dystrophy with narrow arterioles, constricted visual fields and severely reduced full-field ERG rod and cone responses/Foveal RPE atrophy with early predominant cone affection of the full-field ERG/Foveal bull’s eye lesion without flecks varied involvement of Peripheral RPE atrophy And normal or subnormal full-field ERG/Unspecified maculopathy Foveal RPE atrophy without flecks and without significant ERG changes" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055955" "00198" "00076180" "01695" "Unknown" "" "Stargardt maculopathy or Stargardt-flavimaculatus or Fundus flavimaculatus or central and peripheral RPE-choriocapillaris atrophy or atypical Retinitis pigmentosa (choroidoretinal photoreceptor dystrophy) or cone-rod dystrophy or bull\'s eye maculopathy; Oval-shaped RPE irregularity and thinning,“beaten bronze” reflexes, and perifoveal yellow-grey flecks/ Abundant fish-tail-like yellowish flecks outside the foveal area with foveal atrophy of RPE/Ill-defined macular RPE-atrophy with coarse hyperpigmentation and peripheral atrophic RPE speckles and/or webs/Diffuse choroidoretinal dystrophy with narrow arterioles, constricted visual fields and severely reduced full-field ERG rod and cone responses/Foveal RPE atrophy with early predominant cone affection of the full-field ERG/Foveal bull’s eye lesion without flecks varied involvement of Peripheral RPE atrophy And normal or subnormal full-field ERG/Unspecified maculopathy Foveal RPE atrophy without flecks and without significant ERG changes" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055956" "00198" "00076181" "01695" "Unknown" "" "Stargardt maculopathy or Stargardt-flavimaculatus or Fundus flavimaculatus or central and peripheral RPE-choriocapillaris atrophy or atypical Retinitis pigmentosa (choroidoretinal photoreceptor dystrophy) or cone-rod dystrophy or bull\'s eye maculopathy; Oval-shaped RPE irregularity and thinning,“beaten bronze” reflexes, and perifoveal yellow-grey flecks/ Abundant fish-tail-like yellowish flecks outside the foveal area with foveal atrophy of RPE/Ill-defined macular RPE-atrophy with coarse hyperpigmentation and peripheral atrophic RPE speckles and/or webs/Diffuse choroidoretinal dystrophy with narrow arterioles, constricted visual fields and severely reduced full-field ERG rod and cone responses/Foveal RPE atrophy with early predominant cone affection of the full-field ERG/Foveal bull’s eye lesion without flecks varied involvement of Peripheral RPE atrophy And normal or subnormal full-field ERG/Unspecified maculopathy Foveal RPE atrophy without flecks and without significant ERG changes" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055957" "00198" "00076182" "01695" "Unknown" "" "Stargardt maculopathy or Stargardt-flavimaculatus or Fundus flavimaculatus or central and peripheral RPE-choriocapillaris atrophy or atypical Retinitis pigmentosa (choroidoretinal photoreceptor dystrophy) or cone-rod dystrophy or bull\'s eye maculopathy; Oval-shaped RPE irregularity and thinning,“beaten bronze” reflexes, and perifoveal yellow-grey flecks/ Abundant fish-tail-like yellowish flecks outside the foveal area with foveal atrophy of RPE/Ill-defined macular RPE-atrophy with coarse hyperpigmentation and peripheral atrophic RPE speckles and/or webs/Diffuse choroidoretinal dystrophy with narrow arterioles, constricted visual fields and severely reduced full-field ERG rod and cone responses/Foveal RPE atrophy with early predominant cone affection of the full-field ERG/Foveal bull’s eye lesion without flecks varied involvement of Peripheral RPE atrophy And normal or subnormal full-field ERG/Unspecified maculopathy Foveal RPE atrophy without flecks and without significant ERG changes" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055958" "00198" "00076183" "01695" "Unknown" "" "Stargardt maculopathy or Stargardt-flavimaculatus or Fundus flavimaculatus or central and peripheral RPE-choriocapillaris atrophy or atypical Retinitis pigmentosa (choroidoretinal photoreceptor dystrophy) or cone-rod dystrophy or bull\'s eye maculopathy; Oval-shaped RPE irregularity and thinning,“beaten bronze” reflexes, and perifoveal yellow-grey flecks/ Abundant fish-tail-like yellowish flecks outside the foveal area with foveal atrophy of RPE/Ill-defined macular RPE-atrophy with coarse hyperpigmentation and peripheral atrophic RPE speckles and/or webs/Diffuse choroidoretinal dystrophy with narrow arterioles, constricted visual fields and severely reduced full-field ERG rod and cone responses/Foveal RPE atrophy with early predominant cone affection of the full-field ERG/Foveal bull’s eye lesion without flecks varied involvement of Peripheral RPE atrophy And normal or subnormal full-field ERG/Unspecified maculopathy Foveal RPE atrophy without flecks and without significant ERG changes" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055959" "00198" "00076184" "01695" "Unknown" "" "Stargardt maculopathy or Stargardt-flavimaculatus or Fundus flavimaculatus or central and peripheral RPE-choriocapillaris atrophy or atypical Retinitis pigmentosa (choroidoretinal photoreceptor dystrophy) or cone-rod dystrophy or bull\'s eye maculopathy; Oval-shaped RPE irregularity and thinning,“beaten bronze” reflexes, and perifoveal yellow-grey flecks/ Abundant fish-tail-like yellowish flecks outside the foveal area with foveal atrophy of RPE/Ill-defined macular RPE-atrophy with coarse hyperpigmentation and peripheral atrophic RPE speckles and/or webs/Diffuse choroidoretinal dystrophy with narrow arterioles, constricted visual fields and severely reduced full-field ERG rod and cone responses/Foveal RPE atrophy with early predominant cone affection of the full-field ERG/Foveal bull’s eye lesion without flecks varied involvement of Peripheral RPE atrophy And normal or subnormal full-field ERG/Unspecified maculopathy Foveal RPE atrophy without flecks and without significant ERG changes" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055960" "00198" "00076185" "01695" "Unknown" "" "Stargardt maculopathy or Stargardt-flavimaculatus or Fundus flavimaculatus or central and peripheral RPE-choriocapillaris atrophy or atypical Retinitis pigmentosa (choroidoretinal photoreceptor dystrophy) or cone-rod dystrophy or bull\'s eye maculopathy; Oval-shaped RPE irregularity and thinning,“beaten bronze” reflexes, and perifoveal yellow-grey flecks/ Abundant fish-tail-like yellowish flecks outside the foveal area with foveal atrophy of RPE/Ill-defined macular RPE-atrophy with coarse hyperpigmentation and peripheral atrophic RPE speckles and/or webs/Diffuse choroidoretinal dystrophy with narrow arterioles, constricted visual fields and severely reduced full-field ERG rod and cone responses/Foveal RPE atrophy with early predominant cone affection of the full-field ERG/Foveal bull’s eye lesion without flecks varied involvement of Peripheral RPE atrophy And normal or subnormal full-field ERG/Unspecified maculopathy Foveal RPE atrophy without flecks and without significant ERG changes" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055961" "00198" "00076186" "01695" "Unknown" "" "Stargardt maculopathy or Stargardt-flavimaculatus or Fundus flavimaculatus or central and peripheral RPE-choriocapillaris atrophy or atypical Retinitis pigmentosa (choroidoretinal photoreceptor dystrophy) or cone-rod dystrophy or bull\'s eye maculopathy; Oval-shaped RPE irregularity and thinning,“beaten bronze” reflexes, and perifoveal yellow-grey flecks/ Abundant fish-tail-like yellowish flecks outside the foveal area with foveal atrophy of RPE/Ill-defined macular RPE-atrophy with coarse hyperpigmentation and peripheral atrophic RPE speckles and/or webs/Diffuse choroidoretinal dystrophy with narrow arterioles, constricted visual fields and severely reduced full-field ERG rod and cone responses/Foveal RPE atrophy with early predominant cone affection of the full-field ERG/Foveal bull’s eye lesion without flecks varied involvement of Peripheral RPE atrophy And normal or subnormal full-field ERG/Unspecified maculopathy Foveal RPE atrophy without flecks and without significant ERG changes" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055962" "00198" "00076187" "01695" "Unknown" "" "Stargardt maculopathy or Stargardt-flavimaculatus or Fundus flavimaculatus or central and peripheral RPE-choriocapillaris atrophy or atypical Retinitis pigmentosa (choroidoretinal photoreceptor dystrophy) or cone-rod dystrophy or bull\'s eye maculopathy; Oval-shaped RPE irregularity and thinning,“beaten bronze” reflexes, and perifoveal yellow-grey flecks/ Abundant fish-tail-like yellowish flecks outside the foveal area with foveal atrophy of RPE/Ill-defined macular RPE-atrophy with coarse hyperpigmentation and peripheral atrophic RPE speckles and/or webs/Diffuse choroidoretinal dystrophy with narrow arterioles, constricted visual fields and severely reduced full-field ERG rod and cone responses/Foveal RPE atrophy with early predominant cone affection of the full-field ERG/Foveal bull’s eye lesion without flecks varied involvement of Peripheral RPE atrophy And normal or subnormal full-field ERG/Unspecified maculopathy Foveal RPE atrophy without flecks and without significant ERG changes" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055963" "00198" "00076188" "01695" "Unknown" "" "Stargardt maculopathy or Stargardt-flavimaculatus or Fundus flavimaculatus or central and peripheral RPE-choriocapillaris atrophy or atypical Retinitis pigmentosa (choroidoretinal photoreceptor dystrophy) or cone-rod dystrophy or bull\'s eye maculopathy; Oval-shaped RPE irregularity and thinning,“beaten bronze” reflexes, and perifoveal yellow-grey flecks/ Abundant fish-tail-like yellowish flecks outside the foveal area with foveal atrophy of RPE/Ill-defined macular RPE-atrophy with coarse hyperpigmentation and peripheral atrophic RPE speckles and/or webs/Diffuse choroidoretinal dystrophy with narrow arterioles, constricted visual fields and severely reduced full-field ERG rod and cone responses/Foveal RPE atrophy with early predominant cone affection of the full-field ERG/Foveal bull’s eye lesion without flecks varied involvement of Peripheral RPE atrophy And normal or subnormal full-field ERG/Unspecified maculopathy Foveal RPE atrophy without flecks and without significant ERG changes" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055964" "00198" "00076189" "01695" "Unknown" "" "Stargardt maculopathy or Stargardt-flavimaculatus or Fundus flavimaculatus or central and peripheral RPE-choriocapillaris atrophy or atypical Retinitis pigmentosa (choroidoretinal photoreceptor dystrophy) or cone-rod dystrophy or bull\'s eye maculopathy; Oval-shaped RPE irregularity and thinning,“beaten bronze” reflexes, and perifoveal yellow-grey flecks/ Abundant fish-tail-like yellowish flecks outside the foveal area with foveal atrophy of RPE/Ill-defined macular RPE-atrophy with coarse hyperpigmentation and peripheral atrophic RPE speckles and/or webs/Diffuse choroidoretinal dystrophy with narrow arterioles, constricted visual fields and severely reduced full-field ERG rod and cone responses/Foveal RPE atrophy with early predominant cone affection of the full-field ERG/Foveal bull’s eye lesion without flecks varied involvement of Peripheral RPE atrophy And normal or subnormal full-field ERG/Unspecified maculopathy Foveal RPE atrophy without flecks and without significant ERG changes" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055965" "00198" "00076190" "01695" "Unknown" "" "Stargardt maculopathy or Stargardt-flavimaculatus or Fundus flavimaculatus or central and peripheral RPE-choriocapillaris atrophy or atypical Retinitis pigmentosa (choroidoretinal photoreceptor dystrophy) or cone-rod dystrophy or bull\'s eye maculopathy; Oval-shaped RPE irregularity and thinning,“beaten bronze” reflexes, and perifoveal yellow-grey flecks/ Abundant fish-tail-like yellowish flecks outside the foveal area with foveal atrophy of RPE/Ill-defined macular RPE-atrophy with coarse hyperpigmentation and peripheral atrophic RPE speckles and/or webs/Diffuse choroidoretinal dystrophy with narrow arterioles, constricted visual fields and severely reduced full-field ERG rod and cone responses/Foveal RPE atrophy with early predominant cone affection of the full-field ERG/Foveal bull’s eye lesion without flecks varied involvement of Peripheral RPE atrophy And normal or subnormal full-field ERG/Unspecified maculopathy Foveal RPE atrophy without flecks and without significant ERG changes" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055966" "00198" "00076191" "01695" "Unknown" "" "Stargardt maculopathy or Stargardt-flavimaculatus or Fundus flavimaculatus or central and peripheral RPE-choriocapillaris atrophy or atypical Retinitis pigmentosa (choroidoretinal photoreceptor dystrophy) or cone-rod dystrophy or bull\'s eye maculopathy; Oval-shaped RPE irregularity and thinning,“beaten bronze” reflexes, and perifoveal yellow-grey flecks/ Abundant fish-tail-like yellowish flecks outside the foveal area with foveal atrophy of RPE/Ill-defined macular RPE-atrophy with coarse hyperpigmentation and peripheral atrophic RPE speckles and/or webs/Diffuse choroidoretinal dystrophy with narrow arterioles, constricted visual fields and severely reduced full-field ERG rod and cone responses/Foveal RPE atrophy with early predominant cone affection of the full-field ERG/Foveal bull’s eye lesion without flecks varied involvement of Peripheral RPE atrophy And normal or subnormal full-field ERG/Unspecified maculopathy Foveal RPE atrophy without flecks and without significant ERG changes" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055967" "00198" "00076192" "01695" "Unknown" "" "Stargardt maculopathy or Stargardt-flavimaculatus or Fundus flavimaculatus or central and peripheral RPE-choriocapillaris atrophy or atypical Retinitis pigmentosa (choroidoretinal photoreceptor dystrophy) or cone-rod dystrophy or bull\'s eye maculopathy; Oval-shaped RPE irregularity and thinning,“beaten bronze” reflexes, and perifoveal yellow-grey flecks/ Abundant fish-tail-like yellowish flecks outside the foveal area with foveal atrophy of RPE/Ill-defined macular RPE-atrophy with coarse hyperpigmentation and peripheral atrophic RPE speckles and/or webs/Diffuse choroidoretinal dystrophy with narrow arterioles, constricted visual fields and severely reduced full-field ERG rod and cone responses/Foveal RPE atrophy with early predominant cone affection of the full-field ERG/Foveal bull’s eye lesion without flecks varied involvement of Peripheral RPE atrophy And normal or subnormal full-field ERG/Unspecified maculopathy Foveal RPE atrophy without flecks and without significant ERG changes" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055968" "00198" "00076193" "01695" "Unknown" "" "Stargardt maculopathy or Stargardt-flavimaculatus or Fundus flavimaculatus or central and peripheral RPE-choriocapillaris atrophy or atypical Retinitis pigmentosa (choroidoretinal photoreceptor dystrophy) or cone-rod dystrophy or bull\'s eye maculopathy; Oval-shaped RPE irregularity and thinning,“beaten bronze” reflexes, and perifoveal yellow-grey flecks/ Abundant fish-tail-like yellowish flecks outside the foveal area with foveal atrophy of RPE/Ill-defined macular RPE-atrophy with coarse hyperpigmentation and peripheral atrophic RPE speckles and/or webs/Diffuse choroidoretinal dystrophy with narrow arterioles, constricted visual fields and severely reduced full-field ERG rod and cone responses/Foveal RPE atrophy with early predominant cone affection of the full-field ERG/Foveal bull’s eye lesion without flecks varied involvement of Peripheral RPE atrophy And normal or subnormal full-field ERG/Unspecified maculopathy Foveal RPE atrophy without flecks and without significant ERG changes" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055969" "00198" "00076194" "01695" "Unknown" "" "Stargardt maculopathy or Stargardt-flavimaculatus or Fundus flavimaculatus or central and peripheral RPE-choriocapillaris atrophy or atypical Retinitis pigmentosa (choroidoretinal photoreceptor dystrophy) or cone-rod dystrophy or bull\'s eye maculopathy; Oval-shaped RPE irregularity and thinning,“beaten bronze” reflexes, and perifoveal yellow-grey flecks/ Abundant fish-tail-like yellowish flecks outside the foveal area with foveal atrophy of RPE/Ill-defined macular RPE-atrophy with coarse hyperpigmentation and peripheral atrophic RPE speckles and/or webs/Diffuse choroidoretinal dystrophy with narrow arterioles, constricted visual fields and severely reduced full-field ERG rod and cone responses/Foveal RPE atrophy with early predominant cone affection of the full-field ERG/Foveal bull’s eye lesion without flecks varied involvement of Peripheral RPE atrophy And normal or subnormal full-field ERG/Unspecified maculopathy Foveal RPE atrophy without flecks and without significant ERG changes" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055970" "00198" "00076195" "01695" "Unknown" "" "Stargardt maculopathy or Stargardt-flavimaculatus or Fundus flavimaculatus or central and peripheral RPE-choriocapillaris atrophy or atypical Retinitis pigmentosa (choroidoretinal photoreceptor dystrophy) or cone-rod dystrophy or bull\'s eye maculopathy; Oval-shaped RPE irregularity and thinning,“beaten bronze” reflexes, and perifoveal yellow-grey flecks/ Abundant fish-tail-like yellowish flecks outside the foveal area with foveal atrophy of RPE/Ill-defined macular RPE-atrophy with coarse hyperpigmentation and peripheral atrophic RPE speckles and/or webs/Diffuse choroidoretinal dystrophy with narrow arterioles, constricted visual fields and severely reduced full-field ERG rod and cone responses/Foveal RPE atrophy with early predominant cone affection of the full-field ERG/Foveal bull’s eye lesion without flecks varied involvement of Peripheral RPE atrophy And normal or subnormal full-field ERG/Unspecified maculopathy Foveal RPE atrophy without flecks and without significant ERG changes" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055971" "00198" "00076196" "01695" "Unknown" "" "Stargardt maculopathy or Stargardt-flavimaculatus or Fundus flavimaculatus or central and peripheral RPE-choriocapillaris atrophy or atypical Retinitis pigmentosa (choroidoretinal photoreceptor dystrophy) or cone-rod dystrophy or bull\'s eye maculopathy; Oval-shaped RPE irregularity and thinning,“beaten bronze” reflexes, and perifoveal yellow-grey flecks/ Abundant fish-tail-like yellowish flecks outside the foveal area with foveal atrophy of RPE/Ill-defined macular RPE-atrophy with coarse hyperpigmentation and peripheral atrophic RPE speckles and/or webs/Diffuse choroidoretinal dystrophy with narrow arterioles, constricted visual fields and severely reduced full-field ERG rod and cone responses/Foveal RPE atrophy with early predominant cone affection of the full-field ERG/Foveal bull’s eye lesion without flecks varied involvement of Peripheral RPE atrophy And normal or subnormal full-field ERG/Unspecified maculopathy Foveal RPE atrophy without flecks and without significant ERG changes" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055972" "00198" "00076197" "01695" "Unknown" "" "Stargardt maculopathy or Stargardt-flavimaculatus or Fundus flavimaculatus or central and peripheral RPE-choriocapillaris atrophy or atypical Retinitis pigmentosa (choroidoretinal photoreceptor dystrophy) or cone-rod dystrophy or bull\'s eye maculopathy; Oval-shaped RPE irregularity and thinning,“beaten bronze” reflexes, and perifoveal yellow-grey flecks/ Abundant fish-tail-like yellowish flecks outside the foveal area with foveal atrophy of RPE/Ill-defined macular RPE-atrophy with coarse hyperpigmentation and peripheral atrophic RPE speckles and/or webs/Diffuse choroidoretinal dystrophy with narrow arterioles, constricted visual fields and severely reduced full-field ERG rod and cone responses/Foveal RPE atrophy with early predominant cone affection of the full-field ERG/Foveal bull’s eye lesion without flecks varied involvement of Peripheral RPE atrophy And normal or subnormal full-field ERG/Unspecified maculopathy Foveal RPE atrophy without flecks and without significant ERG changes" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055973" "00198" "00076198" "01695" "Unknown" "" "Stargardt maculopathy or Stargardt-flavimaculatus or Fundus flavimaculatus or central and peripheral RPE-choriocapillaris atrophy or atypical Retinitis pigmentosa (choroidoretinal photoreceptor dystrophy) or cone-rod dystrophy or bull\'s eye maculopathy; Oval-shaped RPE irregularity and thinning,“beaten bronze” reflexes, and perifoveal yellow-grey flecks/ Abundant fish-tail-like yellowish flecks outside the foveal area with foveal atrophy of RPE/Ill-defined macular RPE-atrophy with coarse hyperpigmentation and peripheral atrophic RPE speckles and/or webs/Diffuse choroidoretinal dystrophy with narrow arterioles, constricted visual fields and severely reduced full-field ERG rod and cone responses/Foveal RPE atrophy with early predominant cone affection of the full-field ERG/Foveal bull’s eye lesion without flecks varied involvement of Peripheral RPE atrophy And normal or subnormal full-field ERG/Unspecified maculopathy Foveal RPE atrophy without flecks and without significant ERG changes" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055974" "00198" "00076199" "01695" "Unknown" "" "Stargardt maculopathy or Stargardt-flavimaculatus or Fundus flavimaculatus or central and peripheral RPE-choriocapillaris atrophy or atypical Retinitis pigmentosa (choroidoretinal photoreceptor dystrophy) or cone-rod dystrophy or bull\'s eye maculopathy; Oval-shaped RPE irregularity and thinning,“beaten bronze” reflexes, and perifoveal yellow-grey flecks/ Abundant fish-tail-like yellowish flecks outside the foveal area with foveal atrophy of RPE/Ill-defined macular RPE-atrophy with coarse hyperpigmentation and peripheral atrophic RPE speckles and/or webs/Diffuse choroidoretinal dystrophy with narrow arterioles, constricted visual fields and severely reduced full-field ERG rod and cone responses/Foveal RPE atrophy with early predominant cone affection of the full-field ERG/Foveal bull’s eye lesion without flecks varied involvement of Peripheral RPE atrophy And normal or subnormal full-field ERG/Unspecified maculopathy Foveal RPE atrophy without flecks and without significant ERG changes" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055975" "00198" "00076200" "01695" "Unknown" "" "Stargardt maculopathy or Stargardt-flavimaculatus or Fundus flavimaculatus or central and peripheral RPE-choriocapillaris atrophy or atypical Retinitis pigmentosa (choroidoretinal photoreceptor dystrophy) or cone-rod dystrophy or bull\'s eye maculopathy; Oval-shaped RPE irregularity and thinning,“beaten bronze” reflexes, and perifoveal yellow-grey flecks/ Abundant fish-tail-like yellowish flecks outside the foveal area with foveal atrophy of RPE/Ill-defined macular RPE-atrophy with coarse hyperpigmentation and peripheral atrophic RPE speckles and/or webs/Diffuse choroidoretinal dystrophy with narrow arterioles, constricted visual fields and severely reduced full-field ERG rod and cone responses/Foveal RPE atrophy with early predominant cone affection of the full-field ERG/Foveal bull’s eye lesion without flecks varied involvement of Peripheral RPE atrophy And normal or subnormal full-field ERG/Unspecified maculopathy Foveal RPE atrophy without flecks and without significant ERG changes" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055976" "00198" "00076201" "01695" "Unknown" "" "Stargardt maculopathy or Stargardt-flavimaculatus or Fundus flavimaculatus or central and peripheral RPE-choriocapillaris atrophy or atypical Retinitis pigmentosa (choroidoretinal photoreceptor dystrophy) or cone-rod dystrophy or bull\'s eye maculopathy; Oval-shaped RPE irregularity and thinning,“beaten bronze” reflexes, and perifoveal yellow-grey flecks/ Abundant fish-tail-like yellowish flecks outside the foveal area with foveal atrophy of RPE/Ill-defined macular RPE-atrophy with coarse hyperpigmentation and peripheral atrophic RPE speckles and/or webs/Diffuse choroidoretinal dystrophy with narrow arterioles, constricted visual fields and severely reduced full-field ERG rod and cone responses/Foveal RPE atrophy with early predominant cone affection of the full-field ERG/Foveal bull’s eye lesion without flecks varied involvement of Peripheral RPE atrophy And normal or subnormal full-field ERG/Unspecified maculopathy Foveal RPE atrophy without flecks and without significant ERG changes" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055977" "00198" "00076202" "01695" "Unknown" "" "Stargardt maculopathy or Stargardt-flavimaculatus or Fundus flavimaculatus or central and peripheral RPE-choriocapillaris atrophy or atypical Retinitis pigmentosa (choroidoretinal photoreceptor dystrophy) or cone-rod dystrophy or bull\'s eye maculopathy; Oval-shaped RPE irregularity and thinning,“beaten bronze” reflexes, and perifoveal yellow-grey flecks/ Abundant fish-tail-like yellowish flecks outside the foveal area with foveal atrophy of RPE/Ill-defined macular RPE-atrophy with coarse hyperpigmentation and peripheral atrophic RPE speckles and/or webs/Diffuse choroidoretinal dystrophy with narrow arterioles, constricted visual fields and severely reduced full-field ERG rod and cone responses/Foveal RPE atrophy with early predominant cone affection of the full-field ERG/Foveal bull’s eye lesion without flecks varied involvement of Peripheral RPE atrophy And normal or subnormal full-field ERG/Unspecified maculopathy Foveal RPE atrophy without flecks and without significant ERG changes" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055978" "00198" "00076203" "01695" "Unknown" "" "Stargardt maculopathy or Stargardt-flavimaculatus or Fundus flavimaculatus or central and peripheral RPE-choriocapillaris atrophy or atypical Retinitis pigmentosa (choroidoretinal photoreceptor dystrophy) or cone-rod dystrophy or bull\'s eye maculopathy; Oval-shaped RPE irregularity and thinning,“beaten bronze” reflexes, and perifoveal yellow-grey flecks/ Abundant fish-tail-like yellowish flecks outside the foveal area with foveal atrophy of RPE/Ill-defined macular RPE-atrophy with coarse hyperpigmentation and peripheral atrophic RPE speckles and/or webs/Diffuse choroidoretinal dystrophy with narrow arterioles, constricted visual fields and severely reduced full-field ERG rod and cone responses/Foveal RPE atrophy with early predominant cone affection of the full-field ERG/Foveal bull’s eye lesion without flecks varied involvement of Peripheral RPE atrophy And normal or subnormal full-field ERG/Unspecified maculopathy Foveal RPE atrophy without flecks and without significant ERG changes" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055979" "00198" "00076204" "01695" "Unknown" "" "Stargardt maculopathy or Stargardt-flavimaculatus or Fundus flavimaculatus or central and peripheral RPE-choriocapillaris atrophy or atypical Retinitis pigmentosa (choroidoretinal photoreceptor dystrophy) or cone-rod dystrophy or bull\'s eye maculopathy; Oval-shaped RPE irregularity and thinning,“beaten bronze” reflexes, and perifoveal yellow-grey flecks/ Abundant fish-tail-like yellowish flecks outside the foveal area with foveal atrophy of RPE/Ill-defined macular RPE-atrophy with coarse hyperpigmentation and peripheral atrophic RPE speckles and/or webs/Diffuse choroidoretinal dystrophy with narrow arterioles, constricted visual fields and severely reduced full-field ERG rod and cone responses/Foveal RPE atrophy with early predominant cone affection of the full-field ERG/Foveal bull’s eye lesion without flecks varied involvement of Peripheral RPE atrophy And normal or subnormal full-field ERG/Unspecified maculopathy Foveal RPE atrophy without flecks and without significant ERG changes" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055980" "00198" "00076205" "01695" "Unknown" "" "Stargardt maculopathy or Stargardt-flavimaculatus or Fundus flavimaculatus or central and peripheral RPE-choriocapillaris atrophy or atypical Retinitis pigmentosa (choroidoretinal photoreceptor dystrophy) or cone-rod dystrophy or bull\'s eye maculopathy; Oval-shaped RPE irregularity and thinning,“beaten bronze” reflexes, and perifoveal yellow-grey flecks/ Abundant fish-tail-like yellowish flecks outside the foveal area with foveal atrophy of RPE/Ill-defined macular RPE-atrophy with coarse hyperpigmentation and peripheral atrophic RPE speckles and/or webs/Diffuse choroidoretinal dystrophy with narrow arterioles, constricted visual fields and severely reduced full-field ERG rod and cone responses/Foveal RPE atrophy with early predominant cone affection of the full-field ERG/Foveal bull’s eye lesion without flecks varied involvement of Peripheral RPE atrophy And normal or subnormal full-field ERG/Unspecified maculopathy Foveal RPE atrophy without flecks and without significant ERG changes" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055981" "00198" "00076206" "01695" "Unknown" "" "Stargardt maculopathy or Stargardt-flavimaculatus or Fundus flavimaculatus or central and peripheral RPE-choriocapillaris atrophy or atypical Retinitis pigmentosa (choroidoretinal photoreceptor dystrophy) or cone-rod dystrophy or bull\'s eye maculopathy; Oval-shaped RPE irregularity and thinning,“beaten bronze” reflexes, and perifoveal yellow-grey flecks/ Abundant fish-tail-like yellowish flecks outside the foveal area with foveal atrophy of RPE/Ill-defined macular RPE-atrophy with coarse hyperpigmentation and peripheral atrophic RPE speckles and/or webs/Diffuse choroidoretinal dystrophy with narrow arterioles, constricted visual fields and severely reduced full-field ERG rod and cone responses/Foveal RPE atrophy with early predominant cone affection of the full-field ERG/Foveal bull’s eye lesion without flecks varied involvement of Peripheral RPE atrophy And normal or subnormal full-field ERG/Unspecified maculopathy Foveal RPE atrophy without flecks and without significant ERG changes" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055982" "00198" "00076207" "01695" "Unknown" "" "Stargardt maculopathy or Stargardt-flavimaculatus or Fundus flavimaculatus or central and peripheral RPE-choriocapillaris atrophy or atypical Retinitis pigmentosa (choroidoretinal photoreceptor dystrophy) or cone-rod dystrophy or bull\'s eye maculopathy; Oval-shaped RPE irregularity and thinning,“beaten bronze” reflexes, and perifoveal yellow-grey flecks/ Abundant fish-tail-like yellowish flecks outside the foveal area with foveal atrophy of RPE/Ill-defined macular RPE-atrophy with coarse hyperpigmentation and peripheral atrophic RPE speckles and/or webs/Diffuse choroidoretinal dystrophy with narrow arterioles, constricted visual fields and severely reduced full-field ERG rod and cone responses/Foveal RPE atrophy with early predominant cone affection of the full-field ERG/Foveal bull’s eye lesion without flecks varied involvement of Peripheral RPE atrophy And normal or subnormal full-field ERG/Unspecified maculopathy Foveal RPE atrophy without flecks and without significant ERG changes" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055983" "00198" "00076208" "01695" "Unknown" "" "Stargardt maculopathy or Stargardt-flavimaculatus or Fundus flavimaculatus or central and peripheral RPE-choriocapillaris atrophy or atypical Retinitis pigmentosa (choroidoretinal photoreceptor dystrophy) or cone-rod dystrophy or bull\'s eye maculopathy; Oval-shaped RPE irregularity and thinning,“beaten bronze” reflexes, and perifoveal yellow-grey flecks/ Abundant fish-tail-like yellowish flecks outside the foveal area with foveal atrophy of RPE/Ill-defined macular RPE-atrophy with coarse hyperpigmentation and peripheral atrophic RPE speckles and/or webs/Diffuse choroidoretinal dystrophy with narrow arterioles, constricted visual fields and severely reduced full-field ERG rod and cone responses/Foveal RPE atrophy with early predominant cone affection of the full-field ERG/Foveal bull’s eye lesion without flecks varied involvement of Peripheral RPE atrophy And normal or subnormal full-field ERG/Unspecified maculopathy Foveal RPE atrophy without flecks and without significant ERG changes" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055984" "00198" "00076209" "01695" "Unknown" "" "Stargardt maculopathy or Stargardt-flavimaculatus or Fundus flavimaculatus or central and peripheral RPE-choriocapillaris atrophy or atypical Retinitis pigmentosa (choroidoretinal photoreceptor dystrophy) or cone-rod dystrophy or bull\'s eye maculopathy; Oval-shaped RPE irregularity and thinning,“beaten bronze” reflexes, and perifoveal yellow-grey flecks/ Abundant fish-tail-like yellowish flecks outside the foveal area with foveal atrophy of RPE/Ill-defined macular RPE-atrophy with coarse hyperpigmentation and peripheral atrophic RPE speckles and/or webs/Diffuse choroidoretinal dystrophy with narrow arterioles, constricted visual fields and severely reduced full-field ERG rod and cone responses/Foveal RPE atrophy with early predominant cone affection of the full-field ERG/Foveal bull’s eye lesion without flecks varied involvement of Peripheral RPE atrophy And normal or subnormal full-field ERG/Unspecified maculopathy Foveal RPE atrophy without flecks and without significant ERG changes" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055985" "00198" "00076210" "01695" "Unknown" "" "Stargardt maculopathy or Stargardt-flavimaculatus or Fundus flavimaculatus or central and peripheral RPE-choriocapillaris atrophy or atypical Retinitis pigmentosa (choroidoretinal photoreceptor dystrophy) or cone-rod dystrophy or bull\'s eye maculopathy; Oval-shaped RPE irregularity and thinning,“beaten bronze” reflexes, and perifoveal yellow-grey flecks/ Abundant fish-tail-like yellowish flecks outside the foveal area with foveal atrophy of RPE/Ill-defined macular RPE-atrophy with coarse hyperpigmentation and peripheral atrophic RPE speckles and/or webs/Diffuse choroidoretinal dystrophy with narrow arterioles, constricted visual fields and severely reduced full-field ERG rod and cone responses/Foveal RPE atrophy with early predominant cone affection of the full-field ERG/Foveal bull’s eye lesion without flecks varied involvement of Peripheral RPE atrophy And normal or subnormal full-field ERG/Unspecified maculopathy Foveal RPE atrophy without flecks and without significant ERG changes" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055986" "00198" "00076211" "01695" "Unknown" "" "Stargardt maculopathy or Stargardt-flavimaculatus or Fundus flavimaculatus or central and peripheral RPE-choriocapillaris atrophy or atypical Retinitis pigmentosa (choroidoretinal photoreceptor dystrophy) or cone-rod dystrophy or bull\'s eye maculopathy; Oval-shaped RPE irregularity and thinning,“beaten bronze” reflexes, and perifoveal yellow-grey flecks/ Abundant fish-tail-like yellowish flecks outside the foveal area with foveal atrophy of RPE/Ill-defined macular RPE-atrophy with coarse hyperpigmentation and peripheral atrophic RPE speckles and/or webs/Diffuse choroidoretinal dystrophy with narrow arterioles, constricted visual fields and severely reduced full-field ERG rod and cone responses/Foveal RPE atrophy with early predominant cone affection of the full-field ERG/Foveal bull’s eye lesion without flecks varied involvement of Peripheral RPE atrophy And normal or subnormal full-field ERG/Unspecified maculopathy Foveal RPE atrophy without flecks and without significant ERG changes" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055987" "00198" "00076212" "01695" "Unknown" "" "Stargardt maculopathy or Stargardt-flavimaculatus or Fundus flavimaculatus or central and peripheral RPE-choriocapillaris atrophy or atypical Retinitis pigmentosa (choroidoretinal photoreceptor dystrophy) or cone-rod dystrophy or bull\'s eye maculopathy; Oval-shaped RPE irregularity and thinning,“beaten bronze” reflexes, and perifoveal yellow-grey flecks/ Abundant fish-tail-like yellowish flecks outside the foveal area with foveal atrophy of RPE/Ill-defined macular RPE-atrophy with coarse hyperpigmentation and peripheral atrophic RPE speckles and/or webs/Diffuse choroidoretinal dystrophy with narrow arterioles, constricted visual fields and severely reduced full-field ERG rod and cone responses/Foveal RPE atrophy with early predominant cone affection of the full-field ERG/Foveal bull’s eye lesion without flecks varied involvement of Peripheral RPE atrophy And normal or subnormal full-field ERG/Unspecified maculopathy Foveal RPE atrophy without flecks and without significant ERG changes" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055988" "00198" "00076213" "01695" "Unknown" "" "Stargardt maculopathy or Stargardt-flavimaculatus or Fundus flavimaculatus or central and peripheral RPE-choriocapillaris atrophy or atypical Retinitis pigmentosa (choroidoretinal photoreceptor dystrophy) or cone-rod dystrophy or bull\'s eye maculopathy; Oval-shaped RPE irregularity and thinning,“beaten bronze” reflexes, and perifoveal yellow-grey flecks/ Abundant fish-tail-like yellowish flecks outside the foveal area with foveal atrophy of RPE/Ill-defined macular RPE-atrophy with coarse hyperpigmentation and peripheral atrophic RPE speckles and/or webs/Diffuse choroidoretinal dystrophy with narrow arterioles, constricted visual fields and severely reduced full-field ERG rod and cone responses/Foveal RPE atrophy with early predominant cone affection of the full-field ERG/Foveal bull’s eye lesion without flecks varied involvement of Peripheral RPE atrophy And normal or subnormal full-field ERG/Unspecified maculopathy Foveal RPE atrophy without flecks and without significant ERG changes" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055989" "00198" "00076214" "01695" "Unknown" "" "Stargardt maculopathy or Stargardt-flavimaculatus or Fundus flavimaculatus or central and peripheral RPE-choriocapillaris atrophy or atypical Retinitis pigmentosa (choroidoretinal photoreceptor dystrophy) or cone-rod dystrophy or bull\'s eye maculopathy; Oval-shaped RPE irregularity and thinning,“beaten bronze” reflexes, and perifoveal yellow-grey flecks/ Abundant fish-tail-like yellowish flecks outside the foveal area with foveal atrophy of RPE/Ill-defined macular RPE-atrophy with coarse hyperpigmentation and peripheral atrophic RPE speckles and/or webs/Diffuse choroidoretinal dystrophy with narrow arterioles, constricted visual fields and severely reduced full-field ERG rod and cone responses/Foveal RPE atrophy with early predominant cone affection of the full-field ERG/Foveal bull’s eye lesion without flecks varied involvement of Peripheral RPE atrophy And normal or subnormal full-field ERG/Unspecified maculopathy Foveal RPE atrophy without flecks and without significant ERG changes" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055990" "00198" "00076215" "01695" "Unknown" "" "Stargardt maculopathy or Stargardt-flavimaculatus or Fundus flavimaculatus or central and peripheral RPE-choriocapillaris atrophy or atypical Retinitis pigmentosa (choroidoretinal photoreceptor dystrophy) or cone-rod dystrophy or bull\'s eye maculopathy; Oval-shaped RPE irregularity and thinning,“beaten bronze” reflexes, and perifoveal yellow-grey flecks/ Abundant fish-tail-like yellowish flecks outside the foveal area with foveal atrophy of RPE/Ill-defined macular RPE-atrophy with coarse hyperpigmentation and peripheral atrophic RPE speckles and/or webs/Diffuse choroidoretinal dystrophy with narrow arterioles, constricted visual fields and severely reduced full-field ERG rod and cone responses/Foveal RPE atrophy with early predominant cone affection of the full-field ERG/Foveal bull’s eye lesion without flecks varied involvement of Peripheral RPE atrophy And normal or subnormal full-field ERG/Unspecified maculopathy Foveal RPE atrophy without flecks and without significant ERG changes" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055991" "00198" "00076216" "01695" "Unknown" "" "Stargardt maculopathy or Stargardt-flavimaculatus or Fundus flavimaculatus or central and peripheral RPE-choriocapillaris atrophy or atypical Retinitis pigmentosa (choroidoretinal photoreceptor dystrophy) or cone-rod dystrophy or bull\'s eye maculopathy; Oval-shaped RPE irregularity and thinning,“beaten bronze” reflexes, and perifoveal yellow-grey flecks/ Abundant fish-tail-like yellowish flecks outside the foveal area with foveal atrophy of RPE/Ill-defined macular RPE-atrophy with coarse hyperpigmentation and peripheral atrophic RPE speckles and/or webs/Diffuse choroidoretinal dystrophy with narrow arterioles, constricted visual fields and severely reduced full-field ERG rod and cone responses/Foveal RPE atrophy with early predominant cone affection of the full-field ERG/Foveal bull’s eye lesion without flecks varied involvement of Peripheral RPE atrophy And normal or subnormal full-field ERG/Unspecified maculopathy Foveal RPE atrophy without flecks and without significant ERG changes" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055992" "00198" "00076217" "01695" "Unknown" "" "Stargardt maculopathy or Stargardt-flavimaculatus or Fundus flavimaculatus or central and peripheral RPE-choriocapillaris atrophy or atypical Retinitis pigmentosa (choroidoretinal photoreceptor dystrophy) or cone-rod dystrophy or bull\'s eye maculopathy; Oval-shaped RPE irregularity and thinning,“beaten bronze” reflexes, and perifoveal yellow-grey flecks/ Abundant fish-tail-like yellowish flecks outside the foveal area with foveal atrophy of RPE/Ill-defined macular RPE-atrophy with coarse hyperpigmentation and peripheral atrophic RPE speckles and/or webs/Diffuse choroidoretinal dystrophy with narrow arterioles, constricted visual fields and severely reduced full-field ERG rod and cone responses/Foveal RPE atrophy with early predominant cone affection of the full-field ERG/Foveal bull’s eye lesion without flecks varied involvement of Peripheral RPE atrophy And normal or subnormal full-field ERG/Unspecified maculopathy Foveal RPE atrophy without flecks and without significant ERG changes" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055993" "00198" "00076218" "01695" "Unknown" "" "Stargardt maculopathy or Stargardt-flavimaculatus or Fundus flavimaculatus or central and peripheral RPE-choriocapillaris atrophy or atypical Retinitis pigmentosa (choroidoretinal photoreceptor dystrophy) or cone-rod dystrophy or bull\'s eye maculopathy; Oval-shaped RPE irregularity and thinning,“beaten bronze” reflexes, and perifoveal yellow-grey flecks/ Abundant fish-tail-like yellowish flecks outside the foveal area with foveal atrophy of RPE/Ill-defined macular RPE-atrophy with coarse hyperpigmentation and peripheral atrophic RPE speckles and/or webs/Diffuse choroidoretinal dystrophy with narrow arterioles, constricted visual fields and severely reduced full-field ERG rod and cone responses/Foveal RPE atrophy with early predominant cone affection of the full-field ERG/Foveal bull’s eye lesion without flecks varied involvement of Peripheral RPE atrophy And normal or subnormal full-field ERG/Unspecified maculopathy Foveal RPE atrophy without flecks and without significant ERG changes" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055994" "00198" "00076219" "01695" "Unknown" "" "Stargardt maculopathy or Stargardt-flavimaculatus or Fundus flavimaculatus or central and peripheral RPE-choriocapillaris atrophy or atypical Retinitis pigmentosa (choroidoretinal photoreceptor dystrophy) or cone-rod dystrophy or bull\'s eye maculopathy; Oval-shaped RPE irregularity and thinning,“beaten bronze” reflexes, and perifoveal yellow-grey flecks/ Abundant fish-tail-like yellowish flecks outside the foveal area with foveal atrophy of RPE/Ill-defined macular RPE-atrophy with coarse hyperpigmentation and peripheral atrophic RPE speckles and/or webs/Diffuse choroidoretinal dystrophy with narrow arterioles, constricted visual fields and severely reduced full-field ERG rod and cone responses/Foveal RPE atrophy with early predominant cone affection of the full-field ERG/Foveal bull’s eye lesion without flecks varied involvement of Peripheral RPE atrophy And normal or subnormal full-field ERG/Unspecified maculopathy Foveal RPE atrophy without flecks and without significant ERG changes" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055995" "00198" "00076220" "01695" "Unknown" "" "Stargardt maculopathy or Stargardt-flavimaculatus or Fundus flavimaculatus or central and peripheral RPE-choriocapillaris atrophy or atypical Retinitis pigmentosa (choroidoretinal photoreceptor dystrophy) or cone-rod dystrophy or bull\'s eye maculopathy; Oval-shaped RPE irregularity and thinning,“beaten bronze” reflexes, and perifoveal yellow-grey flecks/ Abundant fish-tail-like yellowish flecks outside the foveal area with foveal atrophy of RPE/Ill-defined macular RPE-atrophy with coarse hyperpigmentation and peripheral atrophic RPE speckles and/or webs/Diffuse choroidoretinal dystrophy with narrow arterioles, constricted visual fields and severely reduced full-field ERG rod and cone responses/Foveal RPE atrophy with early predominant cone affection of the full-field ERG/Foveal bull’s eye lesion without flecks varied involvement of Peripheral RPE atrophy And normal or subnormal full-field ERG/Unspecified maculopathy Foveal RPE atrophy without flecks and without significant ERG changes" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055996" "00198" "00076221" "01695" "Unknown" "" "Stargardt maculopathy or Stargardt-flavimaculatus or Fundus flavimaculatus or central and peripheral RPE-choriocapillaris atrophy or atypical Retinitis pigmentosa (choroidoretinal photoreceptor dystrophy) or cone-rod dystrophy or bull\'s eye maculopathy; Oval-shaped RPE irregularity and thinning,“beaten bronze” reflexes, and perifoveal yellow-grey flecks/ Abundant fish-tail-like yellowish flecks outside the foveal area with foveal atrophy of RPE/Ill-defined macular RPE-atrophy with coarse hyperpigmentation and peripheral atrophic RPE speckles and/or webs/Diffuse choroidoretinal dystrophy with narrow arterioles, constricted visual fields and severely reduced full-field ERG rod and cone responses/Foveal RPE atrophy with early predominant cone affection of the full-field ERG/Foveal bull’s eye lesion without flecks varied involvement of Peripheral RPE atrophy And normal or subnormal full-field ERG/Unspecified maculopathy Foveal RPE atrophy without flecks and without significant ERG changes" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055997" "00198" "00076222" "01695" "Unknown" "" "Stargardt maculopathy or Stargardt-flavimaculatus or Fundus flavimaculatus or central and peripheral RPE-choriocapillaris atrophy or atypical Retinitis pigmentosa (choroidoretinal photoreceptor dystrophy) or cone-rod dystrophy or bull\'s eye maculopathy; Oval-shaped RPE irregularity and thinning,“beaten bronze” reflexes, and perifoveal yellow-grey flecks/ Abundant fish-tail-like yellowish flecks outside the foveal area with foveal atrophy of RPE/Ill-defined macular RPE-atrophy with coarse hyperpigmentation and peripheral atrophic RPE speckles and/or webs/Diffuse choroidoretinal dystrophy with narrow arterioles, constricted visual fields and severely reduced full-field ERG rod and cone responses/Foveal RPE atrophy with early predominant cone affection of the full-field ERG/Foveal bull’s eye lesion without flecks varied involvement of Peripheral RPE atrophy And normal or subnormal full-field ERG/Unspecified maculopathy Foveal RPE atrophy without flecks and without significant ERG changes" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055998" "00198" "00076223" "01695" "Unknown" "" "Stargardt maculopathy or Stargardt-flavimaculatus or Fundus flavimaculatus or central and peripheral RPE-choriocapillaris atrophy or atypical Retinitis pigmentosa (choroidoretinal photoreceptor dystrophy) or cone-rod dystrophy or bull\'s eye maculopathy; Oval-shaped RPE irregularity and thinning,“beaten bronze” reflexes, and perifoveal yellow-grey flecks/ Abundant fish-tail-like yellowish flecks outside the foveal area with foveal atrophy of RPE/Ill-defined macular RPE-atrophy with coarse hyperpigmentation and peripheral atrophic RPE speckles and/or webs/Diffuse choroidoretinal dystrophy with narrow arterioles, constricted visual fields and severely reduced full-field ERG rod and cone responses/Foveal RPE atrophy with early predominant cone affection of the full-field ERG/Foveal bull’s eye lesion without flecks varied involvement of Peripheral RPE atrophy And normal or subnormal full-field ERG/Unspecified maculopathy Foveal RPE atrophy without flecks and without significant ERG changes" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000055999" "00198" "00076224" "01695" "Unknown" "" "Stargardt maculopathy or Stargardt-flavimaculatus or Fundus flavimaculatus or central and peripheral RPE-choriocapillaris atrophy or atypical Retinitis pigmentosa (choroidoretinal photoreceptor dystrophy) or cone-rod dystrophy or bull\'s eye maculopathy; Oval-shaped RPE irregularity and thinning,“beaten bronze” reflexes, and perifoveal yellow-grey flecks/ Abundant fish-tail-like yellowish flecks outside the foveal area with foveal atrophy of RPE/Ill-defined macular RPE-atrophy with coarse hyperpigmentation and peripheral atrophic RPE speckles and/or webs/Diffuse choroidoretinal dystrophy with narrow arterioles, constricted visual fields and severely reduced full-field ERG rod and cone responses/Foveal RPE atrophy with early predominant cone affection of the full-field ERG/Foveal bull’s eye lesion without flecks varied involvement of Peripheral RPE atrophy And normal or subnormal full-field ERG/Unspecified maculopathy Foveal RPE atrophy without flecks and without significant ERG changes" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056000" "00198" "00076225" "01695" "Unknown" "" "Stargardt maculopathy or Stargardt-flavimaculatus or Fundus flavimaculatus or central and peripheral RPE-choriocapillaris atrophy or atypical Retinitis pigmentosa (choroidoretinal photoreceptor dystrophy) or cone-rod dystrophy or bull\'s eye maculopathy; Oval-shaped RPE irregularity and thinning,“beaten bronze” reflexes, and perifoveal yellow-grey flecks/ Abundant fish-tail-like yellowish flecks outside the foveal area with foveal atrophy of RPE/Ill-defined macular RPE-atrophy with coarse hyperpigmentation and peripheral atrophic RPE speckles and/or webs/Diffuse choroidoretinal dystrophy with narrow arterioles, constricted visual fields and severely reduced full-field ERG rod and cone responses/Foveal RPE atrophy with early predominant cone affection of the full-field ERG/Foveal bull’s eye lesion without flecks varied involvement of Peripheral RPE atrophy And normal or subnormal full-field ERG/Unspecified maculopathy Foveal RPE atrophy without flecks and without significant ERG changes" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056001" "00198" "00076226" "01695" "Unknown" "" "Stargardt maculopathy or Stargardt-flavimaculatus or Fundus flavimaculatus or central and peripheral RPE-choriocapillaris atrophy or atypical Retinitis pigmentosa (choroidoretinal photoreceptor dystrophy) or cone-rod dystrophy or bull\'s eye maculopathy; Oval-shaped RPE irregularity and thinning,“beaten bronze” reflexes, and perifoveal yellow-grey flecks/ Abundant fish-tail-like yellowish flecks outside the foveal area with foveal atrophy of RPE/Ill-defined macular RPE-atrophy with coarse hyperpigmentation and peripheral atrophic RPE speckles and/or webs/Diffuse choroidoretinal dystrophy with narrow arterioles, constricted visual fields and severely reduced full-field ERG rod and cone responses/Foveal RPE atrophy with early predominant cone affection of the full-field ERG/Foveal bull’s eye lesion without flecks varied involvement of Peripheral RPE atrophy And normal or subnormal full-field ERG/Unspecified maculopathy Foveal RPE atrophy without flecks and without significant ERG changes" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056002" "00198" "00076227" "01695" "Unknown" "" "Stargardt maculopathy or Stargardt-flavimaculatus or Fundus flavimaculatus or central and peripheral RPE-choriocapillaris atrophy or atypical Retinitis pigmentosa (choroidoretinal photoreceptor dystrophy) or cone-rod dystrophy or bull\'s eye maculopathy; Oval-shaped RPE irregularity and thinning,“beaten bronze” reflexes, and perifoveal yellow-grey flecks/ Abundant fish-tail-like yellowish flecks outside the foveal area with foveal atrophy of RPE/Ill-defined macular RPE-atrophy with coarse hyperpigmentation and peripheral atrophic RPE speckles and/or webs/Diffuse choroidoretinal dystrophy with narrow arterioles, constricted visual fields and severely reduced full-field ERG rod and cone responses/Foveal RPE atrophy with early predominant cone affection of the full-field ERG/Foveal bull’s eye lesion without flecks varied involvement of Peripheral RPE atrophy And normal or subnormal full-field ERG/Unspecified maculopathy Foveal RPE atrophy without flecks and without significant ERG changes" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056003" "00198" "00076228" "01695" "Unknown" "" "Stargardt maculopathy or Stargardt-flavimaculatus or Fundus flavimaculatus or central and peripheral RPE-choriocapillaris atrophy or atypical Retinitis pigmentosa (choroidoretinal photoreceptor dystrophy) or cone-rod dystrophy or bull\'s eye maculopathy; Oval-shaped RPE irregularity and thinning,“beaten bronze” reflexes, and perifoveal yellow-grey flecks/ Abundant fish-tail-like yellowish flecks outside the foveal area with foveal atrophy of RPE/Ill-defined macular RPE-atrophy with coarse hyperpigmentation and peripheral atrophic RPE speckles and/or webs/Diffuse choroidoretinal dystrophy with narrow arterioles, constricted visual fields and severely reduced full-field ERG rod and cone responses/Foveal RPE atrophy with early predominant cone affection of the full-field ERG/Foveal bull’s eye lesion without flecks varied involvement of Peripheral RPE atrophy And normal or subnormal full-field ERG/Unspecified maculopathy Foveal RPE atrophy without flecks and without significant ERG changes" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056004" "00198" "00076229" "01695" "Unknown" "" "Stargardt maculopathy or Stargardt-flavimaculatus or Fundus flavimaculatus or central and peripheral RPE-choriocapillaris atrophy or atypical Retinitis pigmentosa (choroidoretinal photoreceptor dystrophy) or cone-rod dystrophy or bull\'s eye maculopathy; Oval-shaped RPE irregularity and thinning,“beaten bronze” reflexes, and perifoveal yellow-grey flecks/ Abundant fish-tail-like yellowish flecks outside the foveal area with foveal atrophy of RPE/Ill-defined macular RPE-atrophy with coarse hyperpigmentation and peripheral atrophic RPE speckles and/or webs/Diffuse choroidoretinal dystrophy with narrow arterioles, constricted visual fields and severely reduced full-field ERG rod and cone responses/Foveal RPE atrophy with early predominant cone affection of the full-field ERG/Foveal bull’s eye lesion without flecks varied involvement of Peripheral RPE atrophy And normal or subnormal full-field ERG/Unspecified maculopathy Foveal RPE atrophy without flecks and without significant ERG changes" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056005" "00198" "00076230" "01695" "Unknown" "" "Stargardt maculopathy or Stargardt-flavimaculatus or Fundus flavimaculatus or central and peripheral RPE-choriocapillaris atrophy or atypical Retinitis pigmentosa (choroidoretinal photoreceptor dystrophy) or cone-rod dystrophy or bull\'s eye maculopathy; Oval-shaped RPE irregularity and thinning,“beaten bronze” reflexes, and perifoveal yellow-grey flecks/ Abundant fish-tail-like yellowish flecks outside the foveal area with foveal atrophy of RPE/Ill-defined macular RPE-atrophy with coarse hyperpigmentation and peripheral atrophic RPE speckles and/or webs/Diffuse choroidoretinal dystrophy with narrow arterioles, constricted visual fields and severely reduced full-field ERG rod and cone responses/Foveal RPE atrophy with early predominant cone affection of the full-field ERG/Foveal bull’s eye lesion without flecks varied involvement of Peripheral RPE atrophy And normal or subnormal full-field ERG/Unspecified maculopathy Foveal RPE atrophy without flecks and without significant ERG changes" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056006" "00198" "00076231" "01695" "Unknown" "" "Stargardt maculopathy or Stargardt-flavimaculatus or Fundus flavimaculatus or central and peripheral RPE-choriocapillaris atrophy or atypical Retinitis pigmentosa (choroidoretinal photoreceptor dystrophy) or cone-rod dystrophy or bull\'s eye maculopathy; Oval-shaped RPE irregularity and thinning,“beaten bronze” reflexes, and perifoveal yellow-grey flecks/ Abundant fish-tail-like yellowish flecks outside the foveal area with foveal atrophy of RPE/Ill-defined macular RPE-atrophy with coarse hyperpigmentation and peripheral atrophic RPE speckles and/or webs/Diffuse choroidoretinal dystrophy with narrow arterioles, constricted visual fields and severely reduced full-field ERG rod and cone responses/Foveal RPE atrophy with early predominant cone affection of the full-field ERG/Foveal bull’s eye lesion without flecks varied involvement of Peripheral RPE atrophy And normal or subnormal full-field ERG/Unspecified maculopathy Foveal RPE atrophy without flecks and without significant ERG changes" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056007" "00198" "00076232" "01695" "Unknown" "" "Stargardt maculopathy or Stargardt-flavimaculatus or Fundus flavimaculatus or central and peripheral RPE-choriocapillaris atrophy or atypical Retinitis pigmentosa (choroidoretinal photoreceptor dystrophy) or cone-rod dystrophy or bull\'s eye maculopathy; Oval-shaped RPE irregularity and thinning,“beaten bronze” reflexes, and perifoveal yellow-grey flecks/ Abundant fish-tail-like yellowish flecks outside the foveal area with foveal atrophy of RPE/Ill-defined macular RPE-atrophy with coarse hyperpigmentation and peripheral atrophic RPE speckles and/or webs/Diffuse choroidoretinal dystrophy with narrow arterioles, constricted visual fields and severely reduced full-field ERG rod and cone responses/Foveal RPE atrophy with early predominant cone affection of the full-field ERG/Foveal bull’s eye lesion without flecks varied involvement of Peripheral RPE atrophy And normal or subnormal full-field ERG/Unspecified maculopathy Foveal RPE atrophy without flecks and without significant ERG changes" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056008" "00198" "00076233" "01695" "Unknown" "" "Stargardt maculopathy or Stargardt-flavimaculatus or Fundus flavimaculatus or central and peripheral RPE-choriocapillaris atrophy or atypical Retinitis pigmentosa (choroidoretinal photoreceptor dystrophy) or cone-rod dystrophy or bull\'s eye maculopathy; Oval-shaped RPE irregularity and thinning,“beaten bronze” reflexes, and perifoveal yellow-grey flecks/ Abundant fish-tail-like yellowish flecks outside the foveal area with foveal atrophy of RPE/Ill-defined macular RPE-atrophy with coarse hyperpigmentation and peripheral atrophic RPE speckles and/or webs/Diffuse choroidoretinal dystrophy with narrow arterioles, constricted visual fields and severely reduced full-field ERG rod and cone responses/Foveal RPE atrophy with early predominant cone affection of the full-field ERG/Foveal bull’s eye lesion without flecks varied involvement of Peripheral RPE atrophy And normal or subnormal full-field ERG/Unspecified maculopathy Foveal RPE atrophy without flecks and without significant ERG changes" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056009" "00198" "00076234" "01695" "Unknown" "" "Stargardt maculopathy or Stargardt-flavimaculatus or Fundus flavimaculatus or central and peripheral RPE-choriocapillaris atrophy or atypical Retinitis pigmentosa (choroidoretinal photoreceptor dystrophy) or cone-rod dystrophy or bull\'s eye maculopathy; Oval-shaped RPE irregularity and thinning,“beaten bronze” reflexes, and perifoveal yellow-grey flecks/ Abundant fish-tail-like yellowish flecks outside the foveal area with foveal atrophy of RPE/Ill-defined macular RPE-atrophy with coarse hyperpigmentation and peripheral atrophic RPE speckles and/or webs/Diffuse choroidoretinal dystrophy with narrow arterioles, constricted visual fields and severely reduced full-field ERG rod and cone responses/Foveal RPE atrophy with early predominant cone affection of the full-field ERG/Foveal bull’s eye lesion without flecks varied involvement of Peripheral RPE atrophy And normal or subnormal full-field ERG/Unspecified maculopathy Foveal RPE atrophy without flecks and without significant ERG changes" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056010" "00198" "00076235" "01695" "Unknown" "" "Stargardt maculopathy or Stargardt-flavimaculatus or Fundus flavimaculatus or central and peripheral RPE-choriocapillaris atrophy or atypical Retinitis pigmentosa (choroidoretinal photoreceptor dystrophy) or cone-rod dystrophy or bull\'s eye maculopathy; Oval-shaped RPE irregularity and thinning,“beaten bronze” reflexes, and perifoveal yellow-grey flecks/ Abundant fish-tail-like yellowish flecks outside the foveal area with foveal atrophy of RPE/Ill-defined macular RPE-atrophy with coarse hyperpigmentation and peripheral atrophic RPE speckles and/or webs/Diffuse choroidoretinal dystrophy with narrow arterioles, constricted visual fields and severely reduced full-field ERG rod and cone responses/Foveal RPE atrophy with early predominant cone affection of the full-field ERG/Foveal bull’s eye lesion without flecks varied involvement of Peripheral RPE atrophy And normal or subnormal full-field ERG/Unspecified maculopathy Foveal RPE atrophy without flecks and without significant ERG changes" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056011" "00198" "00076236" "01695" "Unknown" "" "Stargardt maculopathy or Stargardt-flavimaculatus or Fundus flavimaculatus or central and peripheral RPE-choriocapillaris atrophy or atypical Retinitis pigmentosa (choroidoretinal photoreceptor dystrophy) or cone-rod dystrophy or bull\'s eye maculopathy; Oval-shaped RPE irregularity and thinning,“beaten bronze” reflexes, and perifoveal yellow-grey flecks/ Abundant fish-tail-like yellowish flecks outside the foveal area with foveal atrophy of RPE/Ill-defined macular RPE-atrophy with coarse hyperpigmentation and peripheral atrophic RPE speckles and/or webs/Diffuse choroidoretinal dystrophy with narrow arterioles, constricted visual fields and severely reduced full-field ERG rod and cone responses/Foveal RPE atrophy with early predominant cone affection of the full-field ERG/Foveal bull’s eye lesion without flecks varied involvement of Peripheral RPE atrophy And normal or subnormal full-field ERG/Unspecified maculopathy Foveal RPE atrophy without flecks and without significant ERG changes" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056012" "00198" "00076237" "01695" "Unknown" "" "Stargardt maculopathy or Stargardt-flavimaculatus or Fundus flavimaculatus or central and peripheral RPE-choriocapillaris atrophy or atypical Retinitis pigmentosa (choroidoretinal photoreceptor dystrophy) or cone-rod dystrophy or bull\'s eye maculopathy; Oval-shaped RPE irregularity and thinning,“beaten bronze” reflexes, and perifoveal yellow-grey flecks/ Abundant fish-tail-like yellowish flecks outside the foveal area with foveal atrophy of RPE/Ill-defined macular RPE-atrophy with coarse hyperpigmentation and peripheral atrophic RPE speckles and/or webs/Diffuse choroidoretinal dystrophy with narrow arterioles, constricted visual fields and severely reduced full-field ERG rod and cone responses/Foveal RPE atrophy with early predominant cone affection of the full-field ERG/Foveal bull’s eye lesion without flecks varied involvement of Peripheral RPE atrophy And normal or subnormal full-field ERG/Unspecified maculopathy Foveal RPE atrophy without flecks and without significant ERG changes" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056013" "00198" "00076238" "01695" "Unknown" "" "Stargardt maculopathy or Stargardt-flavimaculatus or Fundus flavimaculatus or central and peripheral RPE-choriocapillaris atrophy or atypical Retinitis pigmentosa (choroidoretinal photoreceptor dystrophy) or cone-rod dystrophy or bull\'s eye maculopathy; Oval-shaped RPE irregularity and thinning,“beaten bronze” reflexes, and perifoveal yellow-grey flecks/ Abundant fish-tail-like yellowish flecks outside the foveal area with foveal atrophy of RPE/Ill-defined macular RPE-atrophy with coarse hyperpigmentation and peripheral atrophic RPE speckles and/or webs/Diffuse choroidoretinal dystrophy with narrow arterioles, constricted visual fields and severely reduced full-field ERG rod and cone responses/Foveal RPE atrophy with early predominant cone affection of the full-field ERG/Foveal bull’s eye lesion without flecks varied involvement of Peripheral RPE atrophy And normal or subnormal full-field ERG/Unspecified maculopathy Foveal RPE atrophy without flecks and without significant ERG changes" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056014" "00198" "00076239" "01695" "Unknown" "" "Stargardt maculopathy or Stargardt-flavimaculatus or Fundus flavimaculatus or central and peripheral RPE-choriocapillaris atrophy or atypical Retinitis pigmentosa (choroidoretinal photoreceptor dystrophy) or cone-rod dystrophy or bull\'s eye maculopathy; Oval-shaped RPE irregularity and thinning,“beaten bronze” reflexes, and perifoveal yellow-grey flecks/ Abundant fish-tail-like yellowish flecks outside the foveal area with foveal atrophy of RPE/Ill-defined macular RPE-atrophy with coarse hyperpigmentation and peripheral atrophic RPE speckles and/or webs/Diffuse choroidoretinal dystrophy with narrow arterioles, constricted visual fields and severely reduced full-field ERG rod and cone responses/Foveal RPE atrophy with early predominant cone affection of the full-field ERG/Foveal bull’s eye lesion without flecks varied involvement of Peripheral RPE atrophy And normal or subnormal full-field ERG/Unspecified maculopathy Foveal RPE atrophy without flecks and without significant ERG changes" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056015" "00198" "00076240" "01695" "Unknown" "" "Stargardt maculopathy or Stargardt-flavimaculatus or Fundus flavimaculatus or central and peripheral RPE-choriocapillaris atrophy or atypical Retinitis pigmentosa (choroidoretinal photoreceptor dystrophy) or cone-rod dystrophy or bull\'s eye maculopathy; Oval-shaped RPE irregularity and thinning,“beaten bronze” reflexes, and perifoveal yellow-grey flecks/ Abundant fish-tail-like yellowish flecks outside the foveal area with foveal atrophy of RPE/Ill-defined macular RPE-atrophy with coarse hyperpigmentation and peripheral atrophic RPE speckles and/or webs/Diffuse choroidoretinal dystrophy with narrow arterioles, constricted visual fields and severely reduced full-field ERG rod and cone responses/Foveal RPE atrophy with early predominant cone affection of the full-field ERG/Foveal bull’s eye lesion without flecks varied involvement of Peripheral RPE atrophy And normal or subnormal full-field ERG/Unspecified maculopathy Foveal RPE atrophy without flecks and without significant ERG changes" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056016" "00198" "00076241" "01695" "Unknown" "" "Stargardt maculopathy or Stargardt-flavimaculatus or Fundus flavimaculatus or central and peripheral RPE-choriocapillaris atrophy or atypical Retinitis pigmentosa (choroidoretinal photoreceptor dystrophy) or cone-rod dystrophy or bull\'s eye maculopathy; Oval-shaped RPE irregularity and thinning,“beaten bronze” reflexes, and perifoveal yellow-grey flecks/ Abundant fish-tail-like yellowish flecks outside the foveal area with foveal atrophy of RPE/Ill-defined macular RPE-atrophy with coarse hyperpigmentation and peripheral atrophic RPE speckles and/or webs/Diffuse choroidoretinal dystrophy with narrow arterioles, constricted visual fields and severely reduced full-field ERG rod and cone responses/Foveal RPE atrophy with early predominant cone affection of the full-field ERG/Foveal bull’s eye lesion without flecks varied involvement of Peripheral RPE atrophy And normal or subnormal full-field ERG/Unspecified maculopathy Foveal RPE atrophy without flecks and without significant ERG changes" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056017" "00198" "00076242" "01695" "Unknown" "" "Stargardt maculopathy or Stargardt-flavimaculatus or Fundus flavimaculatus or central and peripheral RPE-choriocapillaris atrophy or atypical Retinitis pigmentosa (choroidoretinal photoreceptor dystrophy) or cone-rod dystrophy or bull\'s eye maculopathy; Oval-shaped RPE irregularity and thinning,“beaten bronze” reflexes, and perifoveal yellow-grey flecks/ Abundant fish-tail-like yellowish flecks outside the foveal area with foveal atrophy of RPE/Ill-defined macular RPE-atrophy with coarse hyperpigmentation and peripheral atrophic RPE speckles and/or webs/Diffuse choroidoretinal dystrophy with narrow arterioles, constricted visual fields and severely reduced full-field ERG rod and cone responses/Foveal RPE atrophy with early predominant cone affection of the full-field ERG/Foveal bull’s eye lesion without flecks varied involvement of Peripheral RPE atrophy And normal or subnormal full-field ERG/Unspecified maculopathy Foveal RPE atrophy without flecks and without significant ERG changes" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056018" "00198" "00076243" "01695" "Unknown" "" "Stargardt maculopathy or Stargardt-flavimaculatus or Fundus flavimaculatus or central and peripheral RPE-choriocapillaris atrophy or atypical Retinitis pigmentosa (choroidoretinal photoreceptor dystrophy) or cone-rod dystrophy or bull\'s eye maculopathy; Oval-shaped RPE irregularity and thinning,“beaten bronze” reflexes, and perifoveal yellow-grey flecks/ Abundant fish-tail-like yellowish flecks outside the foveal area with foveal atrophy of RPE/Ill-defined macular RPE-atrophy with coarse hyperpigmentation and peripheral atrophic RPE speckles and/or webs/Diffuse choroidoretinal dystrophy with narrow arterioles, constricted visual fields and severely reduced full-field ERG rod and cone responses/Foveal RPE atrophy with early predominant cone affection of the full-field ERG/Foveal bull’s eye lesion without flecks varied involvement of Peripheral RPE atrophy And normal or subnormal full-field ERG/Unspecified maculopathy Foveal RPE atrophy without flecks and without significant ERG changes" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056019" "00198" "00076244" "01695" "Unknown" "" "Stargardt maculopathy or Stargardt-flavimaculatus or Fundus flavimaculatus or central and peripheral RPE-choriocapillaris atrophy or atypical Retinitis pigmentosa (choroidoretinal photoreceptor dystrophy) or cone-rod dystrophy or bull\'s eye maculopathy; Oval-shaped RPE irregularity and thinning,“beaten bronze” reflexes, and perifoveal yellow-grey flecks/ Abundant fish-tail-like yellowish flecks outside the foveal area with foveal atrophy of RPE/Ill-defined macular RPE-atrophy with coarse hyperpigmentation and peripheral atrophic RPE speckles and/or webs/Diffuse choroidoretinal dystrophy with narrow arterioles, constricted visual fields and severely reduced full-field ERG rod and cone responses/Foveal RPE atrophy with early predominant cone affection of the full-field ERG/Foveal bull’s eye lesion without flecks varied involvement of Peripheral RPE atrophy And normal or subnormal full-field ERG/Unspecified maculopathy Foveal RPE atrophy without flecks and without significant ERG changes" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056020" "00198" "00076245" "01695" "Unknown" "" "Stargardt maculopathy or Stargardt-flavimaculatus or Fundus flavimaculatus or central and peripheral RPE-choriocapillaris atrophy or atypical Retinitis pigmentosa (choroidoretinal photoreceptor dystrophy) or cone-rod dystrophy or bull\'s eye maculopathy; Oval-shaped RPE irregularity and thinning,“beaten bronze” reflexes, and perifoveal yellow-grey flecks/ Abundant fish-tail-like yellowish flecks outside the foveal area with foveal atrophy of RPE/Ill-defined macular RPE-atrophy with coarse hyperpigmentation and peripheral atrophic RPE speckles and/or webs/Diffuse choroidoretinal dystrophy with narrow arterioles, constricted visual fields and severely reduced full-field ERG rod and cone responses/Foveal RPE atrophy with early predominant cone affection of the full-field ERG/Foveal bull’s eye lesion without flecks varied involvement of Peripheral RPE atrophy And normal or subnormal full-field ERG/Unspecified maculopathy Foveal RPE atrophy without flecks and without significant ERG changes" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056021" "00198" "00076246" "01695" "Unknown" "" "Stargardt maculopathy or Stargardt-flavimaculatus or Fundus flavimaculatus or central and peripheral RPE-choriocapillaris atrophy or atypical Retinitis pigmentosa (choroidoretinal photoreceptor dystrophy) or cone-rod dystrophy or bull\'s eye maculopathy; Oval-shaped RPE irregularity and thinning,“beaten bronze” reflexes, and perifoveal yellow-grey flecks/ Abundant fish-tail-like yellowish flecks outside the foveal area with foveal atrophy of RPE/Ill-defined macular RPE-atrophy with coarse hyperpigmentation and peripheral atrophic RPE speckles and/or webs/Diffuse choroidoretinal dystrophy with narrow arterioles, constricted visual fields and severely reduced full-field ERG rod and cone responses/Foveal RPE atrophy with early predominant cone affection of the full-field ERG/Foveal bull’s eye lesion without flecks varied involvement of Peripheral RPE atrophy And normal or subnormal full-field ERG/Unspecified maculopathy Foveal RPE atrophy without flecks and without significant ERG changes" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056022" "00198" "00076247" "01695" "Unknown" "" "Stargardt maculopathy or Stargardt-flavimaculatus or Fundus flavimaculatus or central and peripheral RPE-choriocapillaris atrophy or atypical Retinitis pigmentosa (choroidoretinal photoreceptor dystrophy) or cone-rod dystrophy or bull\'s eye maculopathy; Oval-shaped RPE irregularity and thinning,“beaten bronze” reflexes, and perifoveal yellow-grey flecks/ Abundant fish-tail-like yellowish flecks outside the foveal area with foveal atrophy of RPE/Ill-defined macular RPE-atrophy with coarse hyperpigmentation and peripheral atrophic RPE speckles and/or webs/Diffuse choroidoretinal dystrophy with narrow arterioles, constricted visual fields and severely reduced full-field ERG rod and cone responses/Foveal RPE atrophy with early predominant cone affection of the full-field ERG/Foveal bull’s eye lesion without flecks varied involvement of Peripheral RPE atrophy And normal or subnormal full-field ERG/Unspecified maculopathy Foveal RPE atrophy without flecks and without significant ERG changes" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056023" "00198" "00076248" "01695" "Unknown" "" "Stargardt maculopathy or Stargardt-flavimaculatus or Fundus flavimaculatus or central and peripheral RPE-choriocapillaris atrophy or atypical Retinitis pigmentosa (choroidoretinal photoreceptor dystrophy) or cone-rod dystrophy or bull\'s eye maculopathy; Oval-shaped RPE irregularity and thinning,“beaten bronze” reflexes, and perifoveal yellow-grey flecks/ Abundant fish-tail-like yellowish flecks outside the foveal area with foveal atrophy of RPE/Ill-defined macular RPE-atrophy with coarse hyperpigmentation and peripheral atrophic RPE speckles and/or webs/Diffuse choroidoretinal dystrophy with narrow arterioles, constricted visual fields and severely reduced full-field ERG rod and cone responses/Foveal RPE atrophy with early predominant cone affection of the full-field ERG/Foveal bull’s eye lesion without flecks varied involvement of Peripheral RPE atrophy And normal or subnormal full-field ERG/Unspecified maculopathy Foveal RPE atrophy without flecks and without significant ERG changes" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056024" "00198" "00076249" "01695" "Unknown" "" "Stargardt maculopathy or Stargardt-flavimaculatus or Fundus flavimaculatus or central and peripheral RPE-choriocapillaris atrophy or atypical Retinitis pigmentosa (choroidoretinal photoreceptor dystrophy) or cone-rod dystrophy or bull\'s eye maculopathy; Oval-shaped RPE irregularity and thinning,“beaten bronze” reflexes, and perifoveal yellow-grey flecks/ Abundant fish-tail-like yellowish flecks outside the foveal area with foveal atrophy of RPE/Ill-defined macular RPE-atrophy with coarse hyperpigmentation and peripheral atrophic RPE speckles and/or webs/Diffuse choroidoretinal dystrophy with narrow arterioles, constricted visual fields and severely reduced full-field ERG rod and cone responses/Foveal RPE atrophy with early predominant cone affection of the full-field ERG/Foveal bull’s eye lesion without flecks varied involvement of Peripheral RPE atrophy And normal or subnormal full-field ERG/Unspecified maculopathy Foveal RPE atrophy without flecks and without significant ERG changes" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056025" "00198" "00076250" "01695" "Unknown" "" "Stargardt maculopathy or Stargardt-flavimaculatus or Fundus flavimaculatus or central and peripheral RPE-choriocapillaris atrophy or atypical Retinitis pigmentosa (choroidoretinal photoreceptor dystrophy) or cone-rod dystrophy or bull\'s eye maculopathy; Oval-shaped RPE irregularity and thinning,“beaten bronze” reflexes, and perifoveal yellow-grey flecks/ Abundant fish-tail-like yellowish flecks outside the foveal area with foveal atrophy of RPE/Ill-defined macular RPE-atrophy with coarse hyperpigmentation and peripheral atrophic RPE speckles and/or webs/Diffuse choroidoretinal dystrophy with narrow arterioles, constricted visual fields and severely reduced full-field ERG rod and cone responses/Foveal RPE atrophy with early predominant cone affection of the full-field ERG/Foveal bull’s eye lesion without flecks varied involvement of Peripheral RPE atrophy And normal or subnormal full-field ERG/Unspecified maculopathy Foveal RPE atrophy without flecks and without significant ERG changes" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056026" "00198" "00076251" "01695" "Unknown" "" "Stargardt maculopathy or Stargardt-flavimaculatus or Fundus flavimaculatus or central and peripheral RPE-choriocapillaris atrophy or atypical Retinitis pigmentosa (choroidoretinal photoreceptor dystrophy) or cone-rod dystrophy or bull\'s eye maculopathy; Oval-shaped RPE irregularity and thinning,“beaten bronze” reflexes, and perifoveal yellow-grey flecks/ Abundant fish-tail-like yellowish flecks outside the foveal area with foveal atrophy of RPE/Ill-defined macular RPE-atrophy with coarse hyperpigmentation and peripheral atrophic RPE speckles and/or webs/Diffuse choroidoretinal dystrophy with narrow arterioles, constricted visual fields and severely reduced full-field ERG rod and cone responses/Foveal RPE atrophy with early predominant cone affection of the full-field ERG/Foveal bull’s eye lesion without flecks varied involvement of Peripheral RPE atrophy And normal or subnormal full-field ERG/Unspecified maculopathy Foveal RPE atrophy without flecks and without significant ERG changes" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056027" "00198" "00076252" "01695" "Unknown" "" "Stargardt maculopathy or Stargardt-flavimaculatus or Fundus flavimaculatus or central and peripheral RPE-choriocapillaris atrophy or atypical Retinitis pigmentosa (choroidoretinal photoreceptor dystrophy) or cone-rod dystrophy or bull\'s eye maculopathy; Oval-shaped RPE irregularity and thinning,“beaten bronze” reflexes, and perifoveal yellow-grey flecks/ Abundant fish-tail-like yellowish flecks outside the foveal area with foveal atrophy of RPE/Ill-defined macular RPE-atrophy with coarse hyperpigmentation and peripheral atrophic RPE speckles and/or webs/Diffuse choroidoretinal dystrophy with narrow arterioles, constricted visual fields and severely reduced full-field ERG rod and cone responses/Foveal RPE atrophy with early predominant cone affection of the full-field ERG/Foveal bull’s eye lesion without flecks varied involvement of Peripheral RPE atrophy And normal or subnormal full-field ERG/Unspecified maculopathy Foveal RPE atrophy without flecks and without significant ERG changes" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056028" "00198" "00076253" "01695" "Unknown" "" "Stargardt maculopathy or Stargardt-flavimaculatus or Fundus flavimaculatus or central and peripheral RPE-choriocapillaris atrophy or atypical Retinitis pigmentosa (choroidoretinal photoreceptor dystrophy) or cone-rod dystrophy or bull\'s eye maculopathy; Oval-shaped RPE irregularity and thinning,“beaten bronze” reflexes, and perifoveal yellow-grey flecks/ Abundant fish-tail-like yellowish flecks outside the foveal area with foveal atrophy of RPE/Ill-defined macular RPE-atrophy with coarse hyperpigmentation and peripheral atrophic RPE speckles and/or webs/Diffuse choroidoretinal dystrophy with narrow arterioles, constricted visual fields and severely reduced full-field ERG rod and cone responses/Foveal RPE atrophy with early predominant cone affection of the full-field ERG/Foveal bull’s eye lesion without flecks varied involvement of Peripheral RPE atrophy And normal or subnormal full-field ERG/Unspecified maculopathy Foveal RPE atrophy without flecks and without significant ERG changes" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056029" "00198" "00076254" "01695" "Unknown" "" "Stargardt maculopathy or Stargardt-flavimaculatus or Fundus flavimaculatus or central and peripheral RPE-choriocapillaris atrophy or atypical Retinitis pigmentosa (choroidoretinal photoreceptor dystrophy) or cone-rod dystrophy or bull\'s eye maculopathy; Oval-shaped RPE irregularity and thinning,“beaten bronze” reflexes, and perifoveal yellow-grey flecks/ Abundant fish-tail-like yellowish flecks outside the foveal area with foveal atrophy of RPE/Ill-defined macular RPE-atrophy with coarse hyperpigmentation and peripheral atrophic RPE speckles and/or webs/Diffuse choroidoretinal dystrophy with narrow arterioles, constricted visual fields and severely reduced full-field ERG rod and cone responses/Foveal RPE atrophy with early predominant cone affection of the full-field ERG/Foveal bull’s eye lesion without flecks varied involvement of Peripheral RPE atrophy And normal or subnormal full-field ERG/Unspecified maculopathy Foveal RPE atrophy without flecks and without significant ERG changes" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056030" "00198" "00076255" "01695" "Unknown" "" "Stargardt maculopathy or Stargardt-flavimaculatus or Fundus flavimaculatus or central and peripheral RPE-choriocapillaris atrophy or atypical Retinitis pigmentosa (choroidoretinal photoreceptor dystrophy) or cone-rod dystrophy or bull\'s eye maculopathy; Oval-shaped RPE irregularity and thinning,“beaten bronze” reflexes, and perifoveal yellow-grey flecks/ Abundant fish-tail-like yellowish flecks outside the foveal area with foveal atrophy of RPE/Ill-defined macular RPE-atrophy with coarse hyperpigmentation and peripheral atrophic RPE speckles and/or webs/Diffuse choroidoretinal dystrophy with narrow arterioles, constricted visual fields and severely reduced full-field ERG rod and cone responses/Foveal RPE atrophy with early predominant cone affection of the full-field ERG/Foveal bull’s eye lesion without flecks varied involvement of Peripheral RPE atrophy And normal or subnormal full-field ERG/Unspecified maculopathy Foveal RPE atrophy without flecks and without significant ERG changes" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056031" "00198" "00076256" "01695" "Unknown" "" "Stargardt maculopathy or Stargardt-flavimaculatus or Fundus flavimaculatus or central and peripheral RPE-choriocapillaris atrophy or atypical Retinitis pigmentosa (choroidoretinal photoreceptor dystrophy) or cone-rod dystrophy or bull\'s eye maculopathy; Oval-shaped RPE irregularity and thinning,“beaten bronze” reflexes, and perifoveal yellow-grey flecks/ Abundant fish-tail-like yellowish flecks outside the foveal area with foveal atrophy of RPE/Ill-defined macular RPE-atrophy with coarse hyperpigmentation and peripheral atrophic RPE speckles and/or webs/Diffuse choroidoretinal dystrophy with narrow arterioles, constricted visual fields and severely reduced full-field ERG rod and cone responses/Foveal RPE atrophy with early predominant cone affection of the full-field ERG/Foveal bull’s eye lesion without flecks varied involvement of Peripheral RPE atrophy And normal or subnormal full-field ERG/Unspecified maculopathy Foveal RPE atrophy without flecks and without significant ERG changes" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056032" "00198" "00076257" "01695" "Unknown" "" "Stargardt maculopathy or Stargardt-flavimaculatus or Fundus flavimaculatus or central and peripheral RPE-choriocapillaris atrophy or atypical Retinitis pigmentosa (choroidoretinal photoreceptor dystrophy) or cone-rod dystrophy or bull\'s eye maculopathy; Oval-shaped RPE irregularity and thinning,“beaten bronze” reflexes, and perifoveal yellow-grey flecks/ Abundant fish-tail-like yellowish flecks outside the foveal area with foveal atrophy of RPE/Ill-defined macular RPE-atrophy with coarse hyperpigmentation and peripheral atrophic RPE speckles and/or webs/Diffuse choroidoretinal dystrophy with narrow arterioles, constricted visual fields and severely reduced full-field ERG rod and cone responses/Foveal RPE atrophy with early predominant cone affection of the full-field ERG/Foveal bull’s eye lesion without flecks varied involvement of Peripheral RPE atrophy And normal or subnormal full-field ERG/Unspecified maculopathy Foveal RPE atrophy without flecks and without significant ERG changes" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056033" "00198" "00076258" "01695" "Unknown" "" "Stargardt maculopathy or Stargardt-flavimaculatus or Fundus flavimaculatus or central and peripheral RPE-choriocapillaris atrophy or atypical Retinitis pigmentosa (choroidoretinal photoreceptor dystrophy) or cone-rod dystrophy or bull\'s eye maculopathy; Oval-shaped RPE irregularity and thinning,“beaten bronze” reflexes, and perifoveal yellow-grey flecks/ Abundant fish-tail-like yellowish flecks outside the foveal area with foveal atrophy of RPE/Ill-defined macular RPE-atrophy with coarse hyperpigmentation and peripheral atrophic RPE speckles and/or webs/Diffuse choroidoretinal dystrophy with narrow arterioles, constricted visual fields and severely reduced full-field ERG rod and cone responses/Foveal RPE atrophy with early predominant cone affection of the full-field ERG/Foveal bull’s eye lesion without flecks varied involvement of Peripheral RPE atrophy And normal or subnormal full-field ERG/Unspecified maculopathy Foveal RPE atrophy without flecks and without significant ERG changes" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056034" "00198" "00076259" "01695" "Unknown" "" "Stargardt maculopathy or Stargardt-flavimaculatus or Fundus flavimaculatus or central and peripheral RPE-choriocapillaris atrophy or atypical Retinitis pigmentosa (choroidoretinal photoreceptor dystrophy) or cone-rod dystrophy or bull\'s eye maculopathy; Oval-shaped RPE irregularity and thinning,“beaten bronze” reflexes, and perifoveal yellow-grey flecks/ Abundant fish-tail-like yellowish flecks outside the foveal area with foveal atrophy of RPE/Ill-defined macular RPE-atrophy with coarse hyperpigmentation and peripheral atrophic RPE speckles and/or webs/Diffuse choroidoretinal dystrophy with narrow arterioles, constricted visual fields and severely reduced full-field ERG rod and cone responses/Foveal RPE atrophy with early predominant cone affection of the full-field ERG/Foveal bull’s eye lesion without flecks varied involvement of Peripheral RPE atrophy And normal or subnormal full-field ERG/Unspecified maculopathy Foveal RPE atrophy without flecks and without significant ERG changes" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056035" "00198" "00076260" "01695" "Unknown" "" "Stargardt maculopathy or Stargardt-flavimaculatus or Fundus flavimaculatus or central and peripheral RPE-choriocapillaris atrophy or atypical Retinitis pigmentosa (choroidoretinal photoreceptor dystrophy) or cone-rod dystrophy or bull\'s eye maculopathy; Oval-shaped RPE irregularity and thinning,“beaten bronze” reflexes, and perifoveal yellow-grey flecks/ Abundant fish-tail-like yellowish flecks outside the foveal area with foveal atrophy of RPE/Ill-defined macular RPE-atrophy with coarse hyperpigmentation and peripheral atrophic RPE speckles and/or webs/Diffuse choroidoretinal dystrophy with narrow arterioles, constricted visual fields and severely reduced full-field ERG rod and cone responses/Foveal RPE atrophy with early predominant cone affection of the full-field ERG/Foveal bull’s eye lesion without flecks varied involvement of Peripheral RPE atrophy And normal or subnormal full-field ERG/Unspecified maculopathy Foveal RPE atrophy without flecks and without significant ERG changes" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056036" "00198" "00076261" "01695" "Unknown" "" "Stargardt maculopathy or Stargardt-flavimaculatus or Fundus flavimaculatus or central and peripheral RPE-choriocapillaris atrophy or atypical Retinitis pigmentosa (choroidoretinal photoreceptor dystrophy) or cone-rod dystrophy or bull\'s eye maculopathy; Oval-shaped RPE irregularity and thinning,“beaten bronze” reflexes, and perifoveal yellow-grey flecks/ Abundant fish-tail-like yellowish flecks outside the foveal area with foveal atrophy of RPE/Ill-defined macular RPE-atrophy with coarse hyperpigmentation and peripheral atrophic RPE speckles and/or webs/Diffuse choroidoretinal dystrophy with narrow arterioles, constricted visual fields and severely reduced full-field ERG rod and cone responses/Foveal RPE atrophy with early predominant cone affection of the full-field ERG/Foveal bull’s eye lesion without flecks varied involvement of Peripheral RPE atrophy And normal or subnormal full-field ERG/Unspecified maculopathy Foveal RPE atrophy without flecks and without significant ERG changes" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056037" "00198" "00076262" "01695" "Unknown" "" "Stargardt maculopathy or Stargardt-flavimaculatus or Fundus flavimaculatus or central and peripheral RPE-choriocapillaris atrophy or atypical Retinitis pigmentosa (choroidoretinal photoreceptor dystrophy) or cone-rod dystrophy or bull\'s eye maculopathy; Oval-shaped RPE irregularity and thinning,“beaten bronze” reflexes, and perifoveal yellow-grey flecks/ Abundant fish-tail-like yellowish flecks outside the foveal area with foveal atrophy of RPE/Ill-defined macular RPE-atrophy with coarse hyperpigmentation and peripheral atrophic RPE speckles and/or webs/Diffuse choroidoretinal dystrophy with narrow arterioles, constricted visual fields and severely reduced full-field ERG rod and cone responses/Foveal RPE atrophy with early predominant cone affection of the full-field ERG/Foveal bull’s eye lesion without flecks varied involvement of Peripheral RPE atrophy And normal or subnormal full-field ERG/Unspecified maculopathy Foveal RPE atrophy without flecks and without significant ERG changes" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056038" "00198" "00076263" "01695" "Unknown" "" "Stargardt maculopathy or Stargardt-flavimaculatus or Fundus flavimaculatus or central and peripheral RPE-choriocapillaris atrophy or atypical Retinitis pigmentosa (choroidoretinal photoreceptor dystrophy) or cone-rod dystrophy or bull\'s eye maculopathy; Oval-shaped RPE irregularity and thinning,“beaten bronze” reflexes, and perifoveal yellow-grey flecks/ Abundant fish-tail-like yellowish flecks outside the foveal area with foveal atrophy of RPE/Ill-defined macular RPE-atrophy with coarse hyperpigmentation and peripheral atrophic RPE speckles and/or webs/Diffuse choroidoretinal dystrophy with narrow arterioles, constricted visual fields and severely reduced full-field ERG rod and cone responses/Foveal RPE atrophy with early predominant cone affection of the full-field ERG/Foveal bull’s eye lesion without flecks varied involvement of Peripheral RPE atrophy And normal or subnormal full-field ERG/Unspecified maculopathy Foveal RPE atrophy without flecks and without significant ERG changes" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056039" "00198" "00076264" "01695" "Unknown" "" "Stargardt maculopathy or Stargardt-flavimaculatus or Fundus flavimaculatus or central and peripheral RPE-choriocapillaris atrophy or atypical Retinitis pigmentosa (choroidoretinal photoreceptor dystrophy) or cone-rod dystrophy or bull\'s eye maculopathy; Oval-shaped RPE irregularity and thinning,“beaten bronze” reflexes, and perifoveal yellow-grey flecks/ Abundant fish-tail-like yellowish flecks outside the foveal area with foveal atrophy of RPE/Ill-defined macular RPE-atrophy with coarse hyperpigmentation and peripheral atrophic RPE speckles and/or webs/Diffuse choroidoretinal dystrophy with narrow arterioles, constricted visual fields and severely reduced full-field ERG rod and cone responses/Foveal RPE atrophy with early predominant cone affection of the full-field ERG/Foveal bull’s eye lesion without flecks varied involvement of Peripheral RPE atrophy And normal or subnormal full-field ERG/Unspecified maculopathy Foveal RPE atrophy without flecks and without significant ERG changes" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056040" "00198" "00076265" "01695" "Unknown" "" "Stargardt maculopathy or Stargardt-flavimaculatus or Fundus flavimaculatus or central and peripheral RPE-choriocapillaris atrophy or atypical Retinitis pigmentosa (choroidoretinal photoreceptor dystrophy) or cone-rod dystrophy or bull\'s eye maculopathy; Oval-shaped RPE irregularity and thinning,“beaten bronze” reflexes, and perifoveal yellow-grey flecks/ Abundant fish-tail-like yellowish flecks outside the foveal area with foveal atrophy of RPE/Ill-defined macular RPE-atrophy with coarse hyperpigmentation and peripheral atrophic RPE speckles and/or webs/Diffuse choroidoretinal dystrophy with narrow arterioles, constricted visual fields and severely reduced full-field ERG rod and cone responses/Foveal RPE atrophy with early predominant cone affection of the full-field ERG/Foveal bull’s eye lesion without flecks varied involvement of Peripheral RPE atrophy And normal or subnormal full-field ERG/Unspecified maculopathy Foveal RPE atrophy without flecks and without significant ERG changes" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056041" "00198" "00076266" "01695" "Unknown" "" "Stargardt maculopathy or Stargardt-flavimaculatus or Fundus flavimaculatus or central and peripheral RPE-choriocapillaris atrophy or atypical Retinitis pigmentosa (choroidoretinal photoreceptor dystrophy) or cone-rod dystrophy or bull\'s eye maculopathy; Oval-shaped RPE irregularity and thinning,“beaten bronze” reflexes, and perifoveal yellow-grey flecks/ Abundant fish-tail-like yellowish flecks outside the foveal area with foveal atrophy of RPE/Ill-defined macular RPE-atrophy with coarse hyperpigmentation and peripheral atrophic RPE speckles and/or webs/Diffuse choroidoretinal dystrophy with narrow arterioles, constricted visual fields and severely reduced full-field ERG rod and cone responses/Foveal RPE atrophy with early predominant cone affection of the full-field ERG/Foveal bull’s eye lesion without flecks varied involvement of Peripheral RPE atrophy And normal or subnormal full-field ERG/Unspecified maculopathy Foveal RPE atrophy without flecks and without significant ERG changes" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056042" "00198" "00076267" "01695" "Unknown" "" "Stargardt maculopathy or Stargardt-flavimaculatus or Fundus flavimaculatus or central and peripheral RPE-choriocapillaris atrophy or atypical Retinitis pigmentosa (choroidoretinal photoreceptor dystrophy) or cone-rod dystrophy or bull\'s eye maculopathy; Oval-shaped RPE irregularity and thinning,“beaten bronze” reflexes, and perifoveal yellow-grey flecks/ Abundant fish-tail-like yellowish flecks outside the foveal area with foveal atrophy of RPE/Ill-defined macular RPE-atrophy with coarse hyperpigmentation and peripheral atrophic RPE speckles and/or webs/Diffuse choroidoretinal dystrophy with narrow arterioles, constricted visual fields and severely reduced full-field ERG rod and cone responses/Foveal RPE atrophy with early predominant cone affection of the full-field ERG/Foveal bull’s eye lesion without flecks varied involvement of Peripheral RPE atrophy And normal or subnormal full-field ERG/Unspecified maculopathy Foveal RPE atrophy without flecks and without significant ERG changes" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056043" "00198" "00076268" "01695" "Unknown" "" "Stargardt maculopathy or Stargardt-flavimaculatus or Fundus flavimaculatus or central and peripheral RPE-choriocapillaris atrophy or atypical Retinitis pigmentosa (choroidoretinal photoreceptor dystrophy) or cone-rod dystrophy or bull\'s eye maculopathy; Oval-shaped RPE irregularity and thinning,“beaten bronze” reflexes, and perifoveal yellow-grey flecks/ Abundant fish-tail-like yellowish flecks outside the foveal area with foveal atrophy of RPE/Ill-defined macular RPE-atrophy with coarse hyperpigmentation and peripheral atrophic RPE speckles and/or webs/Diffuse choroidoretinal dystrophy with narrow arterioles, constricted visual fields and severely reduced full-field ERG rod and cone responses/Foveal RPE atrophy with early predominant cone affection of the full-field ERG/Foveal bull’s eye lesion without flecks varied involvement of Peripheral RPE atrophy And normal or subnormal full-field ERG/Unspecified maculopathy Foveal RPE atrophy without flecks and without significant ERG changes" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056044" "00198" "00076269" "01695" "Unknown" "" "Stargardt maculopathy or Stargardt-flavimaculatus or Fundus flavimaculatus or central and peripheral RPE-choriocapillaris atrophy or atypical Retinitis pigmentosa (choroidoretinal photoreceptor dystrophy) or cone-rod dystrophy or bull\'s eye maculopathy; Oval-shaped RPE irregularity and thinning,“beaten bronze” reflexes, and perifoveal yellow-grey flecks/ Abundant fish-tail-like yellowish flecks outside the foveal area with foveal atrophy of RPE/Ill-defined macular RPE-atrophy with coarse hyperpigmentation and peripheral atrophic RPE speckles and/or webs/Diffuse choroidoretinal dystrophy with narrow arterioles, constricted visual fields and severely reduced full-field ERG rod and cone responses/Foveal RPE atrophy with early predominant cone affection of the full-field ERG/Foveal bull’s eye lesion without flecks varied involvement of Peripheral RPE atrophy And normal or subnormal full-field ERG/Unspecified maculopathy Foveal RPE atrophy without flecks and without significant ERG changes" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056045" "00198" "00076270" "01695" "Unknown" "" "Stargardt maculopathy or Stargardt-flavimaculatus or Fundus flavimaculatus or central and peripheral RPE-choriocapillaris atrophy or atypical Retinitis pigmentosa (choroidoretinal photoreceptor dystrophy) or cone-rod dystrophy or bull\'s eye maculopathy; Oval-shaped RPE irregularity and thinning,“beaten bronze” reflexes, and perifoveal yellow-grey flecks/ Abundant fish-tail-like yellowish flecks outside the foveal area with foveal atrophy of RPE/Ill-defined macular RPE-atrophy with coarse hyperpigmentation and peripheral atrophic RPE speckles and/or webs/Diffuse choroidoretinal dystrophy with narrow arterioles, constricted visual fields and severely reduced full-field ERG rod and cone responses/Foveal RPE atrophy with early predominant cone affection of the full-field ERG/Foveal bull’s eye lesion without flecks varied involvement of Peripheral RPE atrophy And normal or subnormal full-field ERG/Unspecified maculopathy Foveal RPE atrophy without flecks and without significant ERG changes" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056046" "00198" "00076271" "01695" "Unknown" "" "Stargardt maculopathy or Stargardt-flavimaculatus or Fundus flavimaculatus or central and peripheral RPE-choriocapillaris atrophy or atypical Retinitis pigmentosa (choroidoretinal photoreceptor dystrophy) or cone-rod dystrophy or bull\'s eye maculopathy; Oval-shaped RPE irregularity and thinning,“beaten bronze” reflexes, and perifoveal yellow-grey flecks/ Abundant fish-tail-like yellowish flecks outside the foveal area with foveal atrophy of RPE/Ill-defined macular RPE-atrophy with coarse hyperpigmentation and peripheral atrophic RPE speckles and/or webs/Diffuse choroidoretinal dystrophy with narrow arterioles, constricted visual fields and severely reduced full-field ERG rod and cone responses/Foveal RPE atrophy with early predominant cone affection of the full-field ERG/Foveal bull’s eye lesion without flecks varied involvement of Peripheral RPE atrophy And normal or subnormal full-field ERG/Unspecified maculopathy Foveal RPE atrophy without flecks and without significant ERG changes" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056047" "00198" "00076272" "01695" "Unknown" "" "Stargardt maculopathy or Stargardt-flavimaculatus or Fundus flavimaculatus or central and peripheral RPE-choriocapillaris atrophy or atypical Retinitis pigmentosa (choroidoretinal photoreceptor dystrophy) or cone-rod dystrophy or bull\'s eye maculopathy; Oval-shaped RPE irregularity and thinning,“beaten bronze” reflexes, and perifoveal yellow-grey flecks/ Abundant fish-tail-like yellowish flecks outside the foveal area with foveal atrophy of RPE/Ill-defined macular RPE-atrophy with coarse hyperpigmentation and peripheral atrophic RPE speckles and/or webs/Diffuse choroidoretinal dystrophy with narrow arterioles, constricted visual fields and severely reduced full-field ERG rod and cone responses/Foveal RPE atrophy with early predominant cone affection of the full-field ERG/Foveal bull’s eye lesion without flecks varied involvement of Peripheral RPE atrophy And normal or subnormal full-field ERG/Unspecified maculopathy Foveal RPE atrophy without flecks and without significant ERG changes" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056048" "00198" "00076273" "01695" "Unknown" "" "Stargardt maculopathy or Stargardt-flavimaculatus or Fundus flavimaculatus or central and peripheral RPE-choriocapillaris atrophy or atypical Retinitis pigmentosa (choroidoretinal photoreceptor dystrophy) or cone-rod dystrophy or bull\'s eye maculopathy; Oval-shaped RPE irregularity and thinning,“beaten bronze” reflexes, and perifoveal yellow-grey flecks/ Abundant fish-tail-like yellowish flecks outside the foveal area with foveal atrophy of RPE/Ill-defined macular RPE-atrophy with coarse hyperpigmentation and peripheral atrophic RPE speckles and/or webs/Diffuse choroidoretinal dystrophy with narrow arterioles, constricted visual fields and severely reduced full-field ERG rod and cone responses/Foveal RPE atrophy with early predominant cone affection of the full-field ERG/Foveal bull’s eye lesion without flecks varied involvement of Peripheral RPE atrophy And normal or subnormal full-field ERG/Unspecified maculopathy Foveal RPE atrophy without flecks and without significant ERG changes" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056049" "00198" "00076274" "01695" "Unknown" "" "Stargardt maculopathy or Stargardt-flavimaculatus or Fundus flavimaculatus or central and peripheral RPE-choriocapillaris atrophy or atypical Retinitis pigmentosa (choroidoretinal photoreceptor dystrophy) or cone-rod dystrophy or bull\'s eye maculopathy; Oval-shaped RPE irregularity and thinning,“beaten bronze” reflexes, and perifoveal yellow-grey flecks/ Abundant fish-tail-like yellowish flecks outside the foveal area with foveal atrophy of RPE/Ill-defined macular RPE-atrophy with coarse hyperpigmentation and peripheral atrophic RPE speckles and/or webs/Diffuse choroidoretinal dystrophy with narrow arterioles, constricted visual fields and severely reduced full-field ERG rod and cone responses/Foveal RPE atrophy with early predominant cone affection of the full-field ERG/Foveal bull’s eye lesion without flecks varied involvement of Peripheral RPE atrophy And normal or subnormal full-field ERG/Unspecified maculopathy Foveal RPE atrophy without flecks and without significant ERG changes" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056050" "00198" "00076275" "01695" "Unknown" "" "Stargardt maculopathy or Stargardt-flavimaculatus or Fundus flavimaculatus or central and peripheral RPE-choriocapillaris atrophy or atypical Retinitis pigmentosa (choroidoretinal photoreceptor dystrophy) or cone-rod dystrophy or bull\'s eye maculopathy; Oval-shaped RPE irregularity and thinning,“beaten bronze” reflexes, and perifoveal yellow-grey flecks/ Abundant fish-tail-like yellowish flecks outside the foveal area with foveal atrophy of RPE/Ill-defined macular RPE-atrophy with coarse hyperpigmentation and peripheral atrophic RPE speckles and/or webs/Diffuse choroidoretinal dystrophy with narrow arterioles, constricted visual fields and severely reduced full-field ERG rod and cone responses/Foveal RPE atrophy with early predominant cone affection of the full-field ERG/Foveal bull’s eye lesion without flecks varied involvement of Peripheral RPE atrophy And normal or subnormal full-field ERG/Unspecified maculopathy Foveal RPE atrophy without flecks and without significant ERG changes" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056051" "00198" "00076276" "01695" "Unknown" "" "Stargardt maculopathy or Stargardt-flavimaculatus or Fundus flavimaculatus or central and peripheral RPE-choriocapillaris atrophy or atypical Retinitis pigmentosa (choroidoretinal photoreceptor dystrophy) or cone-rod dystrophy or bull\'s eye maculopathy; Oval-shaped RPE irregularity and thinning,“beaten bronze” reflexes, and perifoveal yellow-grey flecks/ Abundant fish-tail-like yellowish flecks outside the foveal area with foveal atrophy of RPE/Ill-defined macular RPE-atrophy with coarse hyperpigmentation and peripheral atrophic RPE speckles and/or webs/Diffuse choroidoretinal dystrophy with narrow arterioles, constricted visual fields and severely reduced full-field ERG rod and cone responses/Foveal RPE atrophy with early predominant cone affection of the full-field ERG/Foveal bull’s eye lesion without flecks varied involvement of Peripheral RPE atrophy And normal or subnormal full-field ERG/Unspecified maculopathy Foveal RPE atrophy without flecks and without significant ERG changes" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056052" "00198" "00076277" "01695" "Unknown" "" "Stargardt maculopathy or Stargardt-flavimaculatus or Fundus flavimaculatus or central and peripheral RPE-choriocapillaris atrophy or atypical Retinitis pigmentosa (choroidoretinal photoreceptor dystrophy) or cone-rod dystrophy or bull\'s eye maculopathy; Oval-shaped RPE irregularity and thinning,“beaten bronze” reflexes, and perifoveal yellow-grey flecks/ Abundant fish-tail-like yellowish flecks outside the foveal area with foveal atrophy of RPE/Ill-defined macular RPE-atrophy with coarse hyperpigmentation and peripheral atrophic RPE speckles and/or webs/Diffuse choroidoretinal dystrophy with narrow arterioles, constricted visual fields and severely reduced full-field ERG rod and cone responses/Foveal RPE atrophy with early predominant cone affection of the full-field ERG/Foveal bull’s eye lesion without flecks varied involvement of Peripheral RPE atrophy And normal or subnormal full-field ERG/Unspecified maculopathy Foveal RPE atrophy without flecks and without significant ERG changes" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056053" "00198" "00076278" "01695" "Unknown" "" "Stargardt maculopathy or Stargardt-flavimaculatus or Fundus flavimaculatus or central and peripheral RPE-choriocapillaris atrophy or atypical Retinitis pigmentosa (choroidoretinal photoreceptor dystrophy) or cone-rod dystrophy or bull\'s eye maculopathy; Oval-shaped RPE irregularity and thinning,“beaten bronze” reflexes, and perifoveal yellow-grey flecks/ Abundant fish-tail-like yellowish flecks outside the foveal area with foveal atrophy of RPE/Ill-defined macular RPE-atrophy with coarse hyperpigmentation and peripheral atrophic RPE speckles and/or webs/Diffuse choroidoretinal dystrophy with narrow arterioles, constricted visual fields and severely reduced full-field ERG rod and cone responses/Foveal RPE atrophy with early predominant cone affection of the full-field ERG/Foveal bull’s eye lesion without flecks varied involvement of Peripheral RPE atrophy And normal or subnormal full-field ERG/Unspecified maculopathy Foveal RPE atrophy without flecks and without significant ERG changes" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056054" "00198" "00076279" "01695" "Unknown" "" "Stargardt maculopathy or Stargardt-flavimaculatus or Fundus flavimaculatus or central and peripheral RPE-choriocapillaris atrophy or atypical Retinitis pigmentosa (choroidoretinal photoreceptor dystrophy) or cone-rod dystrophy or bull\'s eye maculopathy; Oval-shaped RPE irregularity and thinning,“beaten bronze” reflexes, and perifoveal yellow-grey flecks/ Abundant fish-tail-like yellowish flecks outside the foveal area with foveal atrophy of RPE/Ill-defined macular RPE-atrophy with coarse hyperpigmentation and peripheral atrophic RPE speckles and/or webs/Diffuse choroidoretinal dystrophy with narrow arterioles, constricted visual fields and severely reduced full-field ERG rod and cone responses/Foveal RPE atrophy with early predominant cone affection of the full-field ERG/Foveal bull’s eye lesion without flecks varied involvement of Peripheral RPE atrophy And normal or subnormal full-field ERG/Unspecified maculopathy Foveal RPE atrophy without flecks and without significant ERG changes" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056055" "00198" "00076280" "01695" "Unknown" "" "Stargardt maculopathy or Stargardt-flavimaculatus or Fundus flavimaculatus or central and peripheral RPE-choriocapillaris atrophy or atypical Retinitis pigmentosa (choroidoretinal photoreceptor dystrophy) or cone-rod dystrophy or bull\'s eye maculopathy; Oval-shaped RPE irregularity and thinning,“beaten bronze” reflexes, and perifoveal yellow-grey flecks/ Abundant fish-tail-like yellowish flecks outside the foveal area with foveal atrophy of RPE/Ill-defined macular RPE-atrophy with coarse hyperpigmentation and peripheral atrophic RPE speckles and/or webs/Diffuse choroidoretinal dystrophy with narrow arterioles, constricted visual fields and severely reduced full-field ERG rod and cone responses/Foveal RPE atrophy with early predominant cone affection of the full-field ERG/Foveal bull’s eye lesion without flecks varied involvement of Peripheral RPE atrophy And normal or subnormal full-field ERG/Unspecified maculopathy Foveal RPE atrophy without flecks and without significant ERG changes" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056056" "00198" "00076281" "01695" "Unknown" "" "Stargardt maculopathy or Stargardt-flavimaculatus or Fundus flavimaculatus or central and peripheral RPE-choriocapillaris atrophy or atypical Retinitis pigmentosa (choroidoretinal photoreceptor dystrophy) or cone-rod dystrophy or bull\'s eye maculopathy; Oval-shaped RPE irregularity and thinning,“beaten bronze” reflexes, and perifoveal yellow-grey flecks/ Abundant fish-tail-like yellowish flecks outside the foveal area with foveal atrophy of RPE/Ill-defined macular RPE-atrophy with coarse hyperpigmentation and peripheral atrophic RPE speckles and/or webs/Diffuse choroidoretinal dystrophy with narrow arterioles, constricted visual fields and severely reduced full-field ERG rod and cone responses/Foveal RPE atrophy with early predominant cone affection of the full-field ERG/Foveal bull’s eye lesion without flecks varied involvement of Peripheral RPE atrophy And normal or subnormal full-field ERG/Unspecified maculopathy Foveal RPE atrophy without flecks and without significant ERG changes" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056057" "00198" "00076282" "01695" "Unknown" "" "Stargardt maculopathy or Stargardt-flavimaculatus or Fundus flavimaculatus or central and peripheral RPE-choriocapillaris atrophy or atypical Retinitis pigmentosa (choroidoretinal photoreceptor dystrophy) or cone-rod dystrophy or bull\'s eye maculopathy; Oval-shaped RPE irregularity and thinning,“beaten bronze” reflexes, and perifoveal yellow-grey flecks/ Abundant fish-tail-like yellowish flecks outside the foveal area with foveal atrophy of RPE/Ill-defined macular RPE-atrophy with coarse hyperpigmentation and peripheral atrophic RPE speckles and/or webs/Diffuse choroidoretinal dystrophy with narrow arterioles, constricted visual fields and severely reduced full-field ERG rod and cone responses/Foveal RPE atrophy with early predominant cone affection of the full-field ERG/Foveal bull’s eye lesion without flecks varied involvement of Peripheral RPE atrophy And normal or subnormal full-field ERG/Unspecified maculopathy Foveal RPE atrophy without flecks and without significant ERG changes" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056058" "00198" "00076283" "01695" "Unknown" "" "Stargardt maculopathy or Stargardt-flavimaculatus or Fundus flavimaculatus or central and peripheral RPE-choriocapillaris atrophy or atypical Retinitis pigmentosa (choroidoretinal photoreceptor dystrophy) or cone-rod dystrophy or bull\'s eye maculopathy; Oval-shaped RPE irregularity and thinning,“beaten bronze” reflexes, and perifoveal yellow-grey flecks/ Abundant fish-tail-like yellowish flecks outside the foveal area with foveal atrophy of RPE/Ill-defined macular RPE-atrophy with coarse hyperpigmentation and peripheral atrophic RPE speckles and/or webs/Diffuse choroidoretinal dystrophy with narrow arterioles, constricted visual fields and severely reduced full-field ERG rod and cone responses/Foveal RPE atrophy with early predominant cone affection of the full-field ERG/Foveal bull’s eye lesion without flecks varied involvement of Peripheral RPE atrophy And normal or subnormal full-field ERG/Unspecified maculopathy Foveal RPE atrophy without flecks and without significant ERG changes" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056059" "00198" "00076284" "01695" "Unknown" "" "Stargardt maculopathy or Stargardt-flavimaculatus or Fundus flavimaculatus or central and peripheral RPE-choriocapillaris atrophy or atypical Retinitis pigmentosa (choroidoretinal photoreceptor dystrophy) or cone-rod dystrophy or bull\'s eye maculopathy; Oval-shaped RPE irregularity and thinning,“beaten bronze” reflexes, and perifoveal yellow-grey flecks/ Abundant fish-tail-like yellowish flecks outside the foveal area with foveal atrophy of RPE/Ill-defined macular RPE-atrophy with coarse hyperpigmentation and peripheral atrophic RPE speckles and/or webs/Diffuse choroidoretinal dystrophy with narrow arterioles, constricted visual fields and severely reduced full-field ERG rod and cone responses/Foveal RPE atrophy with early predominant cone affection of the full-field ERG/Foveal bull’s eye lesion without flecks varied involvement of Peripheral RPE atrophy And normal or subnormal full-field ERG/Unspecified maculopathy Foveal RPE atrophy without flecks and without significant ERG changes" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056060" "00198" "00076285" "01695" "Unknown" "" "Stargardt maculopathy or Stargardt-flavimaculatus or Fundus flavimaculatus or central and peripheral RPE-choriocapillaris atrophy or atypical Retinitis pigmentosa (choroidoretinal photoreceptor dystrophy) or cone-rod dystrophy or bull\'s eye maculopathy; Oval-shaped RPE irregularity and thinning,“beaten bronze” reflexes, and perifoveal yellow-grey flecks/ Abundant fish-tail-like yellowish flecks outside the foveal area with foveal atrophy of RPE/Ill-defined macular RPE-atrophy with coarse hyperpigmentation and peripheral atrophic RPE speckles and/or webs/Diffuse choroidoretinal dystrophy with narrow arterioles, constricted visual fields and severely reduced full-field ERG rod and cone responses/Foveal RPE atrophy with early predominant cone affection of the full-field ERG/Foveal bull’s eye lesion without flecks varied involvement of Peripheral RPE atrophy And normal or subnormal full-field ERG/Unspecified maculopathy Foveal RPE atrophy without flecks and without significant ERG changes" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056061" "00198" "00076286" "01695" "Unknown" "" "Stargardt maculopathy or Stargardt-flavimaculatus or Fundus flavimaculatus or central and peripheral RPE-choriocapillaris atrophy or atypical Retinitis pigmentosa (choroidoretinal photoreceptor dystrophy) or cone-rod dystrophy or bull\'s eye maculopathy; Oval-shaped RPE irregularity and thinning,“beaten bronze” reflexes, and perifoveal yellow-grey flecks/ Abundant fish-tail-like yellowish flecks outside the foveal area with foveal atrophy of RPE/Ill-defined macular RPE-atrophy with coarse hyperpigmentation and peripheral atrophic RPE speckles and/or webs/Diffuse choroidoretinal dystrophy with narrow arterioles, constricted visual fields and severely reduced full-field ERG rod and cone responses/Foveal RPE atrophy with early predominant cone affection of the full-field ERG/Foveal bull’s eye lesion without flecks varied involvement of Peripheral RPE atrophy And normal or subnormal full-field ERG/Unspecified maculopathy Foveal RPE atrophy without flecks and without significant ERG changes" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056062" "00198" "00076287" "01695" "Unknown" "" "Stargardt maculopathy or Stargardt-flavimaculatus or Fundus flavimaculatus or central and peripheral RPE-choriocapillaris atrophy or atypical Retinitis pigmentosa (choroidoretinal photoreceptor dystrophy) or cone-rod dystrophy or bull\'s eye maculopathy; Oval-shaped RPE irregularity and thinning,“beaten bronze” reflexes, and perifoveal yellow-grey flecks/ Abundant fish-tail-like yellowish flecks outside the foveal area with foveal atrophy of RPE/Ill-defined macular RPE-atrophy with coarse hyperpigmentation and peripheral atrophic RPE speckles and/or webs/Diffuse choroidoretinal dystrophy with narrow arterioles, constricted visual fields and severely reduced full-field ERG rod and cone responses/Foveal RPE atrophy with early predominant cone affection of the full-field ERG/Foveal bull’s eye lesion without flecks varied involvement of Peripheral RPE atrophy And normal or subnormal full-field ERG/Unspecified maculopathy Foveal RPE atrophy without flecks and without significant ERG changes" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056063" "00198" "00076288" "01695" "Unknown" "" "Stargardt maculopathy or Stargardt-flavimaculatus or Fundus flavimaculatus or central and peripheral RPE-choriocapillaris atrophy or atypical Retinitis pigmentosa (choroidoretinal photoreceptor dystrophy) or cone-rod dystrophy or bull\'s eye maculopathy; Oval-shaped RPE irregularity and thinning,“beaten bronze” reflexes, and perifoveal yellow-grey flecks/ Abundant fish-tail-like yellowish flecks outside the foveal area with foveal atrophy of RPE/Ill-defined macular RPE-atrophy with coarse hyperpigmentation and peripheral atrophic RPE speckles and/or webs/Diffuse choroidoretinal dystrophy with narrow arterioles, constricted visual fields and severely reduced full-field ERG rod and cone responses/Foveal RPE atrophy with early predominant cone affection of the full-field ERG/Foveal bull’s eye lesion without flecks varied involvement of Peripheral RPE atrophy And normal or subnormal full-field ERG/Unspecified maculopathy Foveal RPE atrophy without flecks and without significant ERG changes" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056064" "00198" "00076289" "01695" "Unknown" "" "Stargardt maculopathy or Stargardt-flavimaculatus or Fundus flavimaculatus or central and peripheral RPE-choriocapillaris atrophy or atypical Retinitis pigmentosa (choroidoretinal photoreceptor dystrophy) or cone-rod dystrophy or bull\'s eye maculopathy; Oval-shaped RPE irregularity and thinning,“beaten bronze” reflexes, and perifoveal yellow-grey flecks/ Abundant fish-tail-like yellowish flecks outside the foveal area with foveal atrophy of RPE/Ill-defined macular RPE-atrophy with coarse hyperpigmentation and peripheral atrophic RPE speckles and/or webs/Diffuse choroidoretinal dystrophy with narrow arterioles, constricted visual fields and severely reduced full-field ERG rod and cone responses/Foveal RPE atrophy with early predominant cone affection of the full-field ERG/Foveal bull’s eye lesion without flecks varied involvement of Peripheral RPE atrophy And normal or subnormal full-field ERG/Unspecified maculopathy Foveal RPE atrophy without flecks and without significant ERG changes" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056065" "00198" "00076290" "01695" "Unknown" "" "Stargardt maculopathy or Stargardt-flavimaculatus or Fundus flavimaculatus or central and peripheral RPE-choriocapillaris atrophy or atypical Retinitis pigmentosa (choroidoretinal photoreceptor dystrophy) or cone-rod dystrophy or bull\'s eye maculopathy; Oval-shaped RPE irregularity and thinning,“beaten bronze” reflexes, and perifoveal yellow-grey flecks/ Abundant fish-tail-like yellowish flecks outside the foveal area with foveal atrophy of RPE/Ill-defined macular RPE-atrophy with coarse hyperpigmentation and peripheral atrophic RPE speckles and/or webs/Diffuse choroidoretinal dystrophy with narrow arterioles, constricted visual fields and severely reduced full-field ERG rod and cone responses/Foveal RPE atrophy with early predominant cone affection of the full-field ERG/Foveal bull’s eye lesion without flecks varied involvement of Peripheral RPE atrophy And normal or subnormal full-field ERG/Unspecified maculopathy Foveal RPE atrophy without flecks and without significant ERG changes" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056066" "00198" "00076291" "01695" "Unknown" "" "Stargardt maculopathy or Stargardt-flavimaculatus or Fundus flavimaculatus or central and peripheral RPE-choriocapillaris atrophy or atypical Retinitis pigmentosa (choroidoretinal photoreceptor dystrophy) or cone-rod dystrophy or bull\'s eye maculopathy; Oval-shaped RPE irregularity and thinning,“beaten bronze” reflexes, and perifoveal yellow-grey flecks/ Abundant fish-tail-like yellowish flecks outside the foveal area with foveal atrophy of RPE/Ill-defined macular RPE-atrophy with coarse hyperpigmentation and peripheral atrophic RPE speckles and/or webs/Diffuse choroidoretinal dystrophy with narrow arterioles, constricted visual fields and severely reduced full-field ERG rod and cone responses/Foveal RPE atrophy with early predominant cone affection of the full-field ERG/Foveal bull’s eye lesion without flecks varied involvement of Peripheral RPE atrophy And normal or subnormal full-field ERG/Unspecified maculopathy Foveal RPE atrophy without flecks and without significant ERG changes" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056067" "00198" "00076292" "01695" "Unknown" "" "Stargardt maculopathy or Stargardt-flavimaculatus or Fundus flavimaculatus or central and peripheral RPE-choriocapillaris atrophy or atypical Retinitis pigmentosa (choroidoretinal photoreceptor dystrophy) or cone-rod dystrophy or bull\'s eye maculopathy; Oval-shaped RPE irregularity and thinning,“beaten bronze” reflexes, and perifoveal yellow-grey flecks/ Abundant fish-tail-like yellowish flecks outside the foveal area with foveal atrophy of RPE/Ill-defined macular RPE-atrophy with coarse hyperpigmentation and peripheral atrophic RPE speckles and/or webs/Diffuse choroidoretinal dystrophy with narrow arterioles, constricted visual fields and severely reduced full-field ERG rod and cone responses/Foveal RPE atrophy with early predominant cone affection of the full-field ERG/Foveal bull’s eye lesion without flecks varied involvement of Peripheral RPE atrophy And normal or subnormal full-field ERG/Unspecified maculopathy Foveal RPE atrophy without flecks and without significant ERG changes" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056068" "00198" "00076293" "01695" "Unknown" "" "Stargardt maculopathy or Stargardt-flavimaculatus or Fundus flavimaculatus or central and peripheral RPE-choriocapillaris atrophy or atypical Retinitis pigmentosa (choroidoretinal photoreceptor dystrophy) or cone-rod dystrophy or bull\'s eye maculopathy; Oval-shaped RPE irregularity and thinning,“beaten bronze” reflexes, and perifoveal yellow-grey flecks/ Abundant fish-tail-like yellowish flecks outside the foveal area with foveal atrophy of RPE/Ill-defined macular RPE-atrophy with coarse hyperpigmentation and peripheral atrophic RPE speckles and/or webs/Diffuse choroidoretinal dystrophy with narrow arterioles, constricted visual fields and severely reduced full-field ERG rod and cone responses/Foveal RPE atrophy with early predominant cone affection of the full-field ERG/Foveal bull’s eye lesion without flecks varied involvement of Peripheral RPE atrophy And normal or subnormal full-field ERG/Unspecified maculopathy Foveal RPE atrophy without flecks and without significant ERG changes" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056069" "00198" "00076294" "01695" "Unknown" "" "Stargardt maculopathy or Stargardt-flavimaculatus or Fundus flavimaculatus or central and peripheral RPE-choriocapillaris atrophy or atypical Retinitis pigmentosa (choroidoretinal photoreceptor dystrophy) or cone-rod dystrophy or bull\'s eye maculopathy; Oval-shaped RPE irregularity and thinning,“beaten bronze” reflexes, and perifoveal yellow-grey flecks/ Abundant fish-tail-like yellowish flecks outside the foveal area with foveal atrophy of RPE/Ill-defined macular RPE-atrophy with coarse hyperpigmentation and peripheral atrophic RPE speckles and/or webs/Diffuse choroidoretinal dystrophy with narrow arterioles, constricted visual fields and severely reduced full-field ERG rod and cone responses/Foveal RPE atrophy with early predominant cone affection of the full-field ERG/Foveal bull’s eye lesion without flecks varied involvement of Peripheral RPE atrophy And normal or subnormal full-field ERG/Unspecified maculopathy Foveal RPE atrophy without flecks and without significant ERG changes" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056070" "00198" "00076295" "01695" "Unknown" "" "Stargardt maculopathy or Stargardt-flavimaculatus or Fundus flavimaculatus or central and peripheral RPE-choriocapillaris atrophy or atypical Retinitis pigmentosa (choroidoretinal photoreceptor dystrophy) or cone-rod dystrophy or bull\'s eye maculopathy; Oval-shaped RPE irregularity and thinning,“beaten bronze” reflexes, and perifoveal yellow-grey flecks/ Abundant fish-tail-like yellowish flecks outside the foveal area with foveal atrophy of RPE/Ill-defined macular RPE-atrophy with coarse hyperpigmentation and peripheral atrophic RPE speckles and/or webs/Diffuse choroidoretinal dystrophy with narrow arterioles, constricted visual fields and severely reduced full-field ERG rod and cone responses/Foveal RPE atrophy with early predominant cone affection of the full-field ERG/Foveal bull’s eye lesion without flecks varied involvement of Peripheral RPE atrophy And normal or subnormal full-field ERG/Unspecified maculopathy Foveal RPE atrophy without flecks and without significant ERG changes" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056071" "00198" "00076296" "01695" "Unknown" "" "Stargardt maculopathy or Stargardt-flavimaculatus or Fundus flavimaculatus or central and peripheral RPE-choriocapillaris atrophy or atypical Retinitis pigmentosa (choroidoretinal photoreceptor dystrophy) or cone-rod dystrophy or bull\'s eye maculopathy; Oval-shaped RPE irregularity and thinning,“beaten bronze” reflexes, and perifoveal yellow-grey flecks/ Abundant fish-tail-like yellowish flecks outside the foveal area with foveal atrophy of RPE/Ill-defined macular RPE-atrophy with coarse hyperpigmentation and peripheral atrophic RPE speckles and/or webs/Diffuse choroidoretinal dystrophy with narrow arterioles, constricted visual fields and severely reduced full-field ERG rod and cone responses/Foveal RPE atrophy with early predominant cone affection of the full-field ERG/Foveal bull’s eye lesion without flecks varied involvement of Peripheral RPE atrophy And normal or subnormal full-field ERG/Unspecified maculopathy Foveal RPE atrophy without flecks and without significant ERG changes" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056072" "00198" "00076297" "01695" "Unknown" "" "Stargardt maculopathy or Stargardt-flavimaculatus or Fundus flavimaculatus or central and peripheral RPE-choriocapillaris atrophy or atypical Retinitis pigmentosa (choroidoretinal photoreceptor dystrophy) or cone-rod dystrophy or bull\'s eye maculopathy; Oval-shaped RPE irregularity and thinning,“beaten bronze” reflexes, and perifoveal yellow-grey flecks/ Abundant fish-tail-like yellowish flecks outside the foveal area with foveal atrophy of RPE/Ill-defined macular RPE-atrophy with coarse hyperpigmentation and peripheral atrophic RPE speckles and/or webs/Diffuse choroidoretinal dystrophy with narrow arterioles, constricted visual fields and severely reduced full-field ERG rod and cone responses/Foveal RPE atrophy with early predominant cone affection of the full-field ERG/Foveal bull’s eye lesion without flecks varied involvement of Peripheral RPE atrophy And normal or subnormal full-field ERG/Unspecified maculopathy Foveal RPE atrophy without flecks and without significant ERG changes" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056073" "00198" "00076298" "01695" "Unknown" "" "Stargardt maculopathy or Stargardt-flavimaculatus or Fundus flavimaculatus or central and peripheral RPE-choriocapillaris atrophy or atypical Retinitis pigmentosa (choroidoretinal photoreceptor dystrophy) or cone-rod dystrophy or bull\'s eye maculopathy; Oval-shaped RPE irregularity and thinning,“beaten bronze” reflexes, and perifoveal yellow-grey flecks/ Abundant fish-tail-like yellowish flecks outside the foveal area with foveal atrophy of RPE/Ill-defined macular RPE-atrophy with coarse hyperpigmentation and peripheral atrophic RPE speckles and/or webs/Diffuse choroidoretinal dystrophy with narrow arterioles, constricted visual fields and severely reduced full-field ERG rod and cone responses/Foveal RPE atrophy with early predominant cone affection of the full-field ERG/Foveal bull’s eye lesion without flecks varied involvement of Peripheral RPE atrophy And normal or subnormal full-field ERG/Unspecified maculopathy Foveal RPE atrophy without flecks and without significant ERG changes" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056074" "00198" "00076299" "01695" "Unknown" "" "Stargardt maculopathy or Stargardt-flavimaculatus or Fundus flavimaculatus or central and peripheral RPE-choriocapillaris atrophy or atypical Retinitis pigmentosa (choroidoretinal photoreceptor dystrophy) or cone-rod dystrophy or bull\'s eye maculopathy; Oval-shaped RPE irregularity and thinning,“beaten bronze” reflexes, and perifoveal yellow-grey flecks/ Abundant fish-tail-like yellowish flecks outside the foveal area with foveal atrophy of RPE/Ill-defined macular RPE-atrophy with coarse hyperpigmentation and peripheral atrophic RPE speckles and/or webs/Diffuse choroidoretinal dystrophy with narrow arterioles, constricted visual fields and severely reduced full-field ERG rod and cone responses/Foveal RPE atrophy with early predominant cone affection of the full-field ERG/Foveal bull’s eye lesion without flecks varied involvement of Peripheral RPE atrophy And normal or subnormal full-field ERG/Unspecified maculopathy Foveal RPE atrophy without flecks and without significant ERG changes" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056075" "00198" "00076300" "01695" "Unknown" "" "Stargardt maculopathy or Stargardt-flavimaculatus or Fundus flavimaculatus or central and peripheral RPE-choriocapillaris atrophy or atypical Retinitis pigmentosa (choroidoretinal photoreceptor dystrophy) or cone-rod dystrophy or bull\'s eye maculopathy; Oval-shaped RPE irregularity and thinning,“beaten bronze” reflexes, and perifoveal yellow-grey flecks/ Abundant fish-tail-like yellowish flecks outside the foveal area with foveal atrophy of RPE/Ill-defined macular RPE-atrophy with coarse hyperpigmentation and peripheral atrophic RPE speckles and/or webs/Diffuse choroidoretinal dystrophy with narrow arterioles, constricted visual fields and severely reduced full-field ERG rod and cone responses/Foveal RPE atrophy with early predominant cone affection of the full-field ERG/Foveal bull’s eye lesion without flecks varied involvement of Peripheral RPE atrophy And normal or subnormal full-field ERG/Unspecified maculopathy Foveal RPE atrophy without flecks and without significant ERG changes" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056076" "00198" "00076301" "01695" "Unknown" "" "Stargardt maculopathy or Stargardt-flavimaculatus or Fundus flavimaculatus or central and peripheral RPE-choriocapillaris atrophy or atypical Retinitis pigmentosa (choroidoretinal photoreceptor dystrophy) or cone-rod dystrophy or bull\'s eye maculopathy; Oval-shaped RPE irregularity and thinning,“beaten bronze” reflexes, and perifoveal yellow-grey flecks/ Abundant fish-tail-like yellowish flecks outside the foveal area with foveal atrophy of RPE/Ill-defined macular RPE-atrophy with coarse hyperpigmentation and peripheral atrophic RPE speckles and/or webs/Diffuse choroidoretinal dystrophy with narrow arterioles, constricted visual fields and severely reduced full-field ERG rod and cone responses/Foveal RPE atrophy with early predominant cone affection of the full-field ERG/Foveal bull’s eye lesion without flecks varied involvement of Peripheral RPE atrophy And normal or subnormal full-field ERG/Unspecified maculopathy Foveal RPE atrophy without flecks and without significant ERG changes" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056077" "00198" "00076302" "01695" "Unknown" "" "Stargardt maculopathy or Stargardt-flavimaculatus or Fundus flavimaculatus or central and peripheral RPE-choriocapillaris atrophy or atypical Retinitis pigmentosa (choroidoretinal photoreceptor dystrophy) or cone-rod dystrophy or bull\'s eye maculopathy; Oval-shaped RPE irregularity and thinning,“beaten bronze” reflexes, and perifoveal yellow-grey flecks/ Abundant fish-tail-like yellowish flecks outside the foveal area with foveal atrophy of RPE/Ill-defined macular RPE-atrophy with coarse hyperpigmentation and peripheral atrophic RPE speckles and/or webs/Diffuse choroidoretinal dystrophy with narrow arterioles, constricted visual fields and severely reduced full-field ERG rod and cone responses/Foveal RPE atrophy with early predominant cone affection of the full-field ERG/Foveal bull’s eye lesion without flecks varied involvement of Peripheral RPE atrophy And normal or subnormal full-field ERG/Unspecified maculopathy Foveal RPE atrophy without flecks and without significant ERG changes" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056078" "00198" "00076303" "01695" "Unknown" "" "Stargardt maculopathy or Stargardt-flavimaculatus or Fundus flavimaculatus or central and peripheral RPE-choriocapillaris atrophy or atypical Retinitis pigmentosa (choroidoretinal photoreceptor dystrophy) or cone-rod dystrophy or bull\'s eye maculopathy; Oval-shaped RPE irregularity and thinning,“beaten bronze” reflexes, and perifoveal yellow-grey flecks/ Abundant fish-tail-like yellowish flecks outside the foveal area with foveal atrophy of RPE/Ill-defined macular RPE-atrophy with coarse hyperpigmentation and peripheral atrophic RPE speckles and/or webs/Diffuse choroidoretinal dystrophy with narrow arterioles, constricted visual fields and severely reduced full-field ERG rod and cone responses/Foveal RPE atrophy with early predominant cone affection of the full-field ERG/Foveal bull’s eye lesion without flecks varied involvement of Peripheral RPE atrophy And normal or subnormal full-field ERG/Unspecified maculopathy Foveal RPE atrophy without flecks and without significant ERG changes" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056079" "00198" "00076304" "01695" "Unknown" "" "Stargardt maculopathy or Stargardt-flavimaculatus or Fundus flavimaculatus or central and peripheral RPE-choriocapillaris atrophy or atypical Retinitis pigmentosa (choroidoretinal photoreceptor dystrophy) or cone-rod dystrophy or bull\'s eye maculopathy; Oval-shaped RPE irregularity and thinning,“beaten bronze” reflexes, and perifoveal yellow-grey flecks/ Abundant fish-tail-like yellowish flecks outside the foveal area with foveal atrophy of RPE/Ill-defined macular RPE-atrophy with coarse hyperpigmentation and peripheral atrophic RPE speckles and/or webs/Diffuse choroidoretinal dystrophy with narrow arterioles, constricted visual fields and severely reduced full-field ERG rod and cone responses/Foveal RPE atrophy with early predominant cone affection of the full-field ERG/Foveal bull’s eye lesion without flecks varied involvement of Peripheral RPE atrophy And normal or subnormal full-field ERG/Unspecified maculopathy Foveal RPE atrophy without flecks and without significant ERG changes" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056080" "00198" "00076305" "01695" "Unknown" "" "Stargardt maculopathy or Stargardt-flavimaculatus or Fundus flavimaculatus or central and peripheral RPE-choriocapillaris atrophy or atypical Retinitis pigmentosa (choroidoretinal photoreceptor dystrophy) or cone-rod dystrophy or bull\'s eye maculopathy; Oval-shaped RPE irregularity and thinning,“beaten bronze” reflexes, and perifoveal yellow-grey flecks/ Abundant fish-tail-like yellowish flecks outside the foveal area with foveal atrophy of RPE/Ill-defined macular RPE-atrophy with coarse hyperpigmentation and peripheral atrophic RPE speckles and/or webs/Diffuse choroidoretinal dystrophy with narrow arterioles, constricted visual fields and severely reduced full-field ERG rod and cone responses/Foveal RPE atrophy with early predominant cone affection of the full-field ERG/Foveal bull’s eye lesion without flecks varied involvement of Peripheral RPE atrophy And normal or subnormal full-field ERG/Unspecified maculopathy Foveal RPE atrophy without flecks and without significant ERG changes" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056081" "00198" "00076306" "01695" "Unknown" "" "Stargardt maculopathy or Stargardt-flavimaculatus or Fundus flavimaculatus or central and peripheral RPE-choriocapillaris atrophy or atypical Retinitis pigmentosa (choroidoretinal photoreceptor dystrophy) or cone-rod dystrophy or bull\'s eye maculopathy; Oval-shaped RPE irregularity and thinning,“beaten bronze” reflexes, and perifoveal yellow-grey flecks/ Abundant fish-tail-like yellowish flecks outside the foveal area with foveal atrophy of RPE/Ill-defined macular RPE-atrophy with coarse hyperpigmentation and peripheral atrophic RPE speckles and/or webs/Diffuse choroidoretinal dystrophy with narrow arterioles, constricted visual fields and severely reduced full-field ERG rod and cone responses/Foveal RPE atrophy with early predominant cone affection of the full-field ERG/Foveal bull’s eye lesion without flecks varied involvement of Peripheral RPE atrophy And normal or subnormal full-field ERG/Unspecified maculopathy Foveal RPE atrophy without flecks and without significant ERG changes" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056082" "00198" "00076307" "01695" "Unknown" "" "Stargardt maculopathy or Stargardt-flavimaculatus or Fundus flavimaculatus or central and peripheral RPE-choriocapillaris atrophy or atypical Retinitis pigmentosa (choroidoretinal photoreceptor dystrophy) or cone-rod dystrophy or bull\'s eye maculopathy; Oval-shaped RPE irregularity and thinning,“beaten bronze” reflexes, and perifoveal yellow-grey flecks/ Abundant fish-tail-like yellowish flecks outside the foveal area with foveal atrophy of RPE/Ill-defined macular RPE-atrophy with coarse hyperpigmentation and peripheral atrophic RPE speckles and/or webs/Diffuse choroidoretinal dystrophy with narrow arterioles, constricted visual fields and severely reduced full-field ERG rod and cone responses/Foveal RPE atrophy with early predominant cone affection of the full-field ERG/Foveal bull’s eye lesion without flecks varied involvement of Peripheral RPE atrophy And normal or subnormal full-field ERG/Unspecified maculopathy Foveal RPE atrophy without flecks and without significant ERG changes" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056083" "00198" "00076308" "01695" "Unknown" "" "Stargardt maculopathy or Stargardt-flavimaculatus or Fundus flavimaculatus or central and peripheral RPE-choriocapillaris atrophy or atypical Retinitis pigmentosa (choroidoretinal photoreceptor dystrophy) or cone-rod dystrophy or bull\'s eye maculopathy; Oval-shaped RPE irregularity and thinning,“beaten bronze” reflexes, and perifoveal yellow-grey flecks/ Abundant fish-tail-like yellowish flecks outside the foveal area with foveal atrophy of RPE/Ill-defined macular RPE-atrophy with coarse hyperpigmentation and peripheral atrophic RPE speckles and/or webs/Diffuse choroidoretinal dystrophy with narrow arterioles, constricted visual fields and severely reduced full-field ERG rod and cone responses/Foveal RPE atrophy with early predominant cone affection of the full-field ERG/Foveal bull’s eye lesion without flecks varied involvement of Peripheral RPE atrophy And normal or subnormal full-field ERG/Unspecified maculopathy Foveal RPE atrophy without flecks and without significant ERG changes" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056084" "00198" "00076309" "01695" "Unknown" "" "Stargardt maculopathy or Stargardt-flavimaculatus or Fundus flavimaculatus or central and peripheral RPE-choriocapillaris atrophy or atypical Retinitis pigmentosa (choroidoretinal photoreceptor dystrophy) or cone-rod dystrophy or bull\'s eye maculopathy; Oval-shaped RPE irregularity and thinning,“beaten bronze” reflexes, and perifoveal yellow-grey flecks/ Abundant fish-tail-like yellowish flecks outside the foveal area with foveal atrophy of RPE/Ill-defined macular RPE-atrophy with coarse hyperpigmentation and peripheral atrophic RPE speckles and/or webs/Diffuse choroidoretinal dystrophy with narrow arterioles, constricted visual fields and severely reduced full-field ERG rod and cone responses/Foveal RPE atrophy with early predominant cone affection of the full-field ERG/Foveal bull’s eye lesion without flecks varied involvement of Peripheral RPE atrophy And normal or subnormal full-field ERG/Unspecified maculopathy Foveal RPE atrophy without flecks and without significant ERG changes" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056085" "00198" "00076310" "01695" "Unknown" "" "Stargardt maculopathy or Stargardt-flavimaculatus or Fundus flavimaculatus or central and peripheral RPE-choriocapillaris atrophy or atypical Retinitis pigmentosa (choroidoretinal photoreceptor dystrophy) or cone-rod dystrophy or bull\'s eye maculopathy; Oval-shaped RPE irregularity and thinning,“beaten bronze” reflexes, and perifoveal yellow-grey flecks/ Abundant fish-tail-like yellowish flecks outside the foveal area with foveal atrophy of RPE/Ill-defined macular RPE-atrophy with coarse hyperpigmentation and peripheral atrophic RPE speckles and/or webs/Diffuse choroidoretinal dystrophy with narrow arterioles, constricted visual fields and severely reduced full-field ERG rod and cone responses/Foveal RPE atrophy with early predominant cone affection of the full-field ERG/Foveal bull’s eye lesion without flecks varied involvement of Peripheral RPE atrophy And normal or subnormal full-field ERG/Unspecified maculopathy Foveal RPE atrophy without flecks and without significant ERG changes" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056086" "00198" "00076311" "01695" "Unknown" "" "Stargardt maculopathy or Stargardt-flavimaculatus or Fundus flavimaculatus or central and peripheral RPE-choriocapillaris atrophy or atypical Retinitis pigmentosa (choroidoretinal photoreceptor dystrophy) or cone-rod dystrophy or bull\'s eye maculopathy; Oval-shaped RPE irregularity and thinning,“beaten bronze” reflexes, and perifoveal yellow-grey flecks/ Abundant fish-tail-like yellowish flecks outside the foveal area with foveal atrophy of RPE/Ill-defined macular RPE-atrophy with coarse hyperpigmentation and peripheral atrophic RPE speckles and/or webs/Diffuse choroidoretinal dystrophy with narrow arterioles, constricted visual fields and severely reduced full-field ERG rod and cone responses/Foveal RPE atrophy with early predominant cone affection of the full-field ERG/Foveal bull’s eye lesion without flecks varied involvement of Peripheral RPE atrophy And normal or subnormal full-field ERG/Unspecified maculopathy Foveal RPE atrophy without flecks and without significant ERG changes" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056087" "00198" "00076312" "01695" "Unknown" "" "Stargardt maculopathy or Stargardt-flavimaculatus or Fundus flavimaculatus or central and peripheral RPE-choriocapillaris atrophy or atypical Retinitis pigmentosa (choroidoretinal photoreceptor dystrophy) or cone-rod dystrophy or bull\'s eye maculopathy; Oval-shaped RPE irregularity and thinning,“beaten bronze” reflexes, and perifoveal yellow-grey flecks/ Abundant fish-tail-like yellowish flecks outside the foveal area with foveal atrophy of RPE/Ill-defined macular RPE-atrophy with coarse hyperpigmentation and peripheral atrophic RPE speckles and/or webs/Diffuse choroidoretinal dystrophy with narrow arterioles, constricted visual fields and severely reduced full-field ERG rod and cone responses/Foveal RPE atrophy with early predominant cone affection of the full-field ERG/Foveal bull’s eye lesion without flecks varied involvement of Peripheral RPE atrophy And normal or subnormal full-field ERG/Unspecified maculopathy Foveal RPE atrophy without flecks and without significant ERG changes" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056088" "00198" "00076313" "01695" "Unknown" "" "Stargardt maculopathy or Stargardt-flavimaculatus or Fundus flavimaculatus or central and peripheral RPE-choriocapillaris atrophy or atypical Retinitis pigmentosa (choroidoretinal photoreceptor dystrophy) or cone-rod dystrophy or bull\'s eye maculopathy; Oval-shaped RPE irregularity and thinning,“beaten bronze” reflexes, and perifoveal yellow-grey flecks/ Abundant fish-tail-like yellowish flecks outside the foveal area with foveal atrophy of RPE/Ill-defined macular RPE-atrophy with coarse hyperpigmentation and peripheral atrophic RPE speckles and/or webs/Diffuse choroidoretinal dystrophy with narrow arterioles, constricted visual fields and severely reduced full-field ERG rod and cone responses/Foveal RPE atrophy with early predominant cone affection of the full-field ERG/Foveal bull’s eye lesion without flecks varied involvement of Peripheral RPE atrophy And normal or subnormal full-field ERG/Unspecified maculopathy Foveal RPE atrophy without flecks and without significant ERG changes" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056089" "00198" "00076314" "01695" "Unknown" "" "Stargardt maculopathy or Stargardt-flavimaculatus or Fundus flavimaculatus or central and peripheral RPE-choriocapillaris atrophy or atypical Retinitis pigmentosa (choroidoretinal photoreceptor dystrophy) or cone-rod dystrophy or bull\'s eye maculopathy; Oval-shaped RPE irregularity and thinning,“beaten bronze” reflexes, and perifoveal yellow-grey flecks/ Abundant fish-tail-like yellowish flecks outside the foveal area with foveal atrophy of RPE/Ill-defined macular RPE-atrophy with coarse hyperpigmentation and peripheral atrophic RPE speckles and/or webs/Diffuse choroidoretinal dystrophy with narrow arterioles, constricted visual fields and severely reduced full-field ERG rod and cone responses/Foveal RPE atrophy with early predominant cone affection of the full-field ERG/Foveal bull’s eye lesion without flecks varied involvement of Peripheral RPE atrophy And normal or subnormal full-field ERG/Unspecified maculopathy Foveal RPE atrophy without flecks and without significant ERG changes" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056090" "00198" "00076315" "01695" "Unknown" "" "Stargardt maculopathy or Stargardt-flavimaculatus or Fundus flavimaculatus or central and peripheral RPE-choriocapillaris atrophy or atypical Retinitis pigmentosa (choroidoretinal photoreceptor dystrophy) or cone-rod dystrophy or bull\'s eye maculopathy; Oval-shaped RPE irregularity and thinning,“beaten bronze” reflexes, and perifoveal yellow-grey flecks/ Abundant fish-tail-like yellowish flecks outside the foveal area with foveal atrophy of RPE/Ill-defined macular RPE-atrophy with coarse hyperpigmentation and peripheral atrophic RPE speckles and/or webs/Diffuse choroidoretinal dystrophy with narrow arterioles, constricted visual fields and severely reduced full-field ERG rod and cone responses/Foveal RPE atrophy with early predominant cone affection of the full-field ERG/Foveal bull’s eye lesion without flecks varied involvement of Peripheral RPE atrophy And normal or subnormal full-field ERG/Unspecified maculopathy Foveal RPE atrophy without flecks and without significant ERG changes" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056091" "00198" "00076316" "01695" "Unknown" "" "Stargardt maculopathy or Stargardt-flavimaculatus or Fundus flavimaculatus or central and peripheral RPE-choriocapillaris atrophy or atypical Retinitis pigmentosa (choroidoretinal photoreceptor dystrophy) or cone-rod dystrophy or bull\'s eye maculopathy; Oval-shaped RPE irregularity and thinning,“beaten bronze” reflexes, and perifoveal yellow-grey flecks/ Abundant fish-tail-like yellowish flecks outside the foveal area with foveal atrophy of RPE/Ill-defined macular RPE-atrophy with coarse hyperpigmentation and peripheral atrophic RPE speckles and/or webs/Diffuse choroidoretinal dystrophy with narrow arterioles, constricted visual fields and severely reduced full-field ERG rod and cone responses/Foveal RPE atrophy with early predominant cone affection of the full-field ERG/Foveal bull’s eye lesion without flecks varied involvement of Peripheral RPE atrophy And normal or subnormal full-field ERG/Unspecified maculopathy Foveal RPE atrophy without flecks and without significant ERG changes" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056092" "00198" "00076317" "01695" "Unknown" "" "Stargardt maculopathy or Stargardt-flavimaculatus or Fundus flavimaculatus or central and peripheral RPE-choriocapillaris atrophy or atypical Retinitis pigmentosa (choroidoretinal photoreceptor dystrophy) or cone-rod dystrophy or bull\'s eye maculopathy; Oval-shaped RPE irregularity and thinning,“beaten bronze” reflexes, and perifoveal yellow-grey flecks/ Abundant fish-tail-like yellowish flecks outside the foveal area with foveal atrophy of RPE/Ill-defined macular RPE-atrophy with coarse hyperpigmentation and peripheral atrophic RPE speckles and/or webs/Diffuse choroidoretinal dystrophy with narrow arterioles, constricted visual fields and severely reduced full-field ERG rod and cone responses/Foveal RPE atrophy with early predominant cone affection of the full-field ERG/Foveal bull’s eye lesion without flecks varied involvement of Peripheral RPE atrophy And normal or subnormal full-field ERG/Unspecified maculopathy Foveal RPE atrophy without flecks and without significant ERG changes" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056093" "00198" "00076318" "01695" "Unknown" "" "Stargardt maculopathy or Stargardt-flavimaculatus or Fundus flavimaculatus or central and peripheral RPE-choriocapillaris atrophy or atypical Retinitis pigmentosa (choroidoretinal photoreceptor dystrophy) or cone-rod dystrophy or bull\'s eye maculopathy; Oval-shaped RPE irregularity and thinning,“beaten bronze” reflexes, and perifoveal yellow-grey flecks/ Abundant fish-tail-like yellowish flecks outside the foveal area with foveal atrophy of RPE/Ill-defined macular RPE-atrophy with coarse hyperpigmentation and peripheral atrophic RPE speckles and/or webs/Diffuse choroidoretinal dystrophy with narrow arterioles, constricted visual fields and severely reduced full-field ERG rod and cone responses/Foveal RPE atrophy with early predominant cone affection of the full-field ERG/Foveal bull’s eye lesion without flecks varied involvement of Peripheral RPE atrophy And normal or subnormal full-field ERG/Unspecified maculopathy Foveal RPE atrophy without flecks and without significant ERG changes" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056094" "00198" "00076319" "01695" "Unknown" "" "maculard dystrophy or bull\'s eye maculopathy; Annular retinal pigment epithelium (RPE) disturbance, a ring of increased autofluorescence surrounding decreased foveal autofluorescence, visual acuity: OD 6/12, OS 6/12" "<33y" "" "unknown" "" "" "" "" "" "" "" ""
"0000056095" "00198" "00076320" "01695" "Unknown" "" "maculard dystrophy or bull\'s eye maculopathy; Annular retinal pigment epithelium (RPE) disturbance, a ring of increased autofluorescence surrounding decreased foveal autofluorescence, visual acuity: OD 6/36, OS 6/36" "<24y" "" "unknown" "" "" "" "" "" "" "" ""
"0000056096" "00198" "00076321" "01695" "Unknown" "" "maculard dystrophy or bull\'s eye maculopathy; Annular retinal pigment epithelium (RPE) disturbance, a ring of increased autofluorescence surrounding decreased foveal autofluorescence, visual acuity: OD 6/60, OS 6/60" "<35y" "" "unknown" "" "" "" "" "" "" "" ""
"0000056097" "00198" "00076322" "01695" "Unknown" "" "maculard dystrophy or bull\'s eye maculopathy; Annular retinal pigment epithelium (RPE) disturbance, a ring of increased autofluorescence surrounding decreased foveal autofluorescence, visual acuity: OD 6/36, OS 6/36" "<15y" "" "unknown" "" "" "" "" "" "" "" ""
"0000056098" "00198" "00076323" "01695" "Unknown" "" "rod-cone dystrophy or bull\'s eye maculopathy; Annular retinal pigment epithelium (RPE) disturbance, a ring of increased autofluorescence surrounding decreased foveal autofluorescence, visual acuity: OD 6/6, OS 6/6" "<39y" "" "unknown" "" "" "" "" "" "" "" ""
"0000056099" "00198" "00076324" "01695" "Unknown" "" "maculard dystrophy or bull\'s eye maculopathy; Annular retinal pigment epithelium (RPE) disturbance, a ring of increased autofluorescence surrounding decreased foveal autofluorescence, visual acuity: OD 6/9, OS 6/9" "<31y" "" "unknown" "" "" "" "" "" "" "" ""
"0000056100" "00198" "00076325" "01695" "Unknown" "" "maculard dystrophy or bull\'s eye maculopathy; Annular retinal pigment epithelium (RPE) disturbance, a ring of increased autofluorescence surrounding decreased foveal autofluorescence, visual acuity: OD 3/60, OS 6/60" "<42y" "" "unknown" "" "" "" "" "" "" "" ""
"0000056101" "00198" "00076326" "01695" "Unknown" "" "maculard dystrophy or bull\'s eye maculopathy; Annular retinal pigment epithelium (RPE) disturbance, decreased foveal autofluorescence only visual acuity: OD 6/12, OS 6/12" "<43y" "" "unknown" "" "" "" "" "" "" "" ""
"0000056102" "00198" "00076327" "01695" "Unknown" "" "maculard dystrophy or bull\'s eye maculopathy; Annular retinal pigment epithelium (RPE) disturbance, decreased foveal autofluorescence only visual acuity: OD 6/9, OS 6/6" "<15y" "" "unknown" "" "" "" "" "" "" "" ""
"0000056103" "00198" "00076328" "01695" "Unknown" "" "maculard dystrophy or bull\'s eye maculopathy; Annular retinal pigment epithelium (RPE) disturbance, decreased foveal autofluorescence only visual acuity: OD 3/60, OS 3/60" "<66y" "" "unknown" "" "" "" "" "" "" "" ""
"0000056104" "00198" "00076329" "01695" "Unknown" "" "maculard dystrophy or bull\'s eye maculopathy; Annular retinal pigment epithelium (RPE) disturbance, decreased foveal autofluorescence only visual acuity: OD 6/60, OS 6/12" "<40y" "" "unknown" "" "" "" "" "" "" "" ""
"0000056105" "00198" "00076330" "01695" "Unknown" "" "maculard dystrophy or bull\'s eye maculopathy; Annular retinal pigment epithelium (RPE) disturbance, decreased foveal autofluorescence only visual acuity: OD 6/60, OS 6/60" "<66y" "" "unknown" "" "" "" "" "" "" "" ""
"0000056106" "00198" "00076331" "01695" "Unknown" "" "maculard dystrophy or bull\'s eye maculopathy; Annular retinal pigment epithelium (RPE) disturbance, a speckled autofluorescence pattern visual acuity: OD 6/9, OS 6/9" "<52y" "" "unknown" "" "" "" "" "" "" "" ""
"0000056107" "00198" "00076332" "01695" "Unknown" "" "maculard dystrophy or bull\'s eye maculopathy; Annular retinal pigment epithelium (RPE) disturbance, a speckled autofluorescence pattern visual acuity: OD 6/36, OS 6/36" "<41y" "" "unknown" "" "" "" "" "" "" "" ""
"0000056108" "00198" "00076333" "01695" "Unknown" "" "maculard dystrophy or bull\'s eye maculopathy; Annular retinal pigment epithelium (RPE) disturbance, a speckled autofluorescence pattern visual acuity: OD 6/18, OS 6/12" "<28y" "" "unknown" "" "" "" "" "" "" "" ""
"0000056109" "00420" "00076334" "01695" "Unknown" "" "Stargardt disease; At 55 years of age: OD 20/350, OS 20/200, peripapillary atrophy, Spherical refractive error measured 3.5 OD and 2.0 OS. Anterior segment examination was unremarkable and applanation tonometry measured 17 mmHg OD and 14 mmHg OS. Posterior segment examination and autofluorescence imaging were significant for sharply demarcated central and peripapillary zones of atrophy and the absence of fleck lesions. Humphrey visual fields demonstrated bilateral central scotomas with eccentric fixation at the inferior border. ERG examination was subnormal and similar to results obtained 22 years ago." "18y" "" "central visual impairment" "" "" "" "" "" "" "" ""
"0000056110" "00420" "00076335" "01695" "Unknown" "" "Stargardt disease; At 19 years of age: OD 20/40, OS 20/150, peripapillary atrophy, Funduscopic exam revealed bilateral central atrophy, multiple fleck lesions, multiple clumps of yellowish deposits at the level of the retinal pigment epithelium in the posterior pole surrounded with some pigment clumping, and no evidence of atrophy of the retinal pigment epithelium. Autofluorescence imaging revealed multifocal atrophic lesions involving the central macula and peripheral hyperautofluorescent flecks OU. The peripapillary regions demonstrated atrophic flecks OU without confluent atrophy." "18y" "" "difficulty reading, particularly in dim light, gradual difficulty in focusing" "" "" "" "" "" "" "" ""
"0000056111" "00420" "00076336" "01695" "Unknown" "" "Stargardt disease; At 15 years of age: OD 20/150, OS 20/150, peripapillary atrophy, Anterior segment exam was unremarkable with applanation tonometry measuring 16 mmHg OU. Posterior segment exam and autofluorescence was significant for bilateral central atrophy and pisciform fleck atrophy involving the peripapillary, macular, and peripheral regions OU" "8y" "" "difficulty reading materials held greater than 6 inches from her eyes, decreased visual acuity" "" "" "" "" "" "" "" ""
"0000056112" "00420" "00076337" "01695" "Unknown" "" "Stargardt disease; At 52 years of age: OD 20/100, OS 20/70, Spherical refractive error measured 3.00 OD and 3.25 OS. Anterior segment examination was unremarkable and applanation tonometry measured 17 mmHg OD and 14 mmHg OS. Posterior segment examination was significant for central atrophy and classic peripheral pisciform flecks sparing the peripapillary regions OU. Autofluorescence imaging demonstrated inner atrophic flecks and outer hyperautofluorescent flecks. Moderate peripapillary hypoautofluorescence, but not atrophy, was present, likely secondary to the patient’s myopia." "45y" "" "declining vision OS" "" "" "" "" "" "" "" ""
"0000056113" "00420" "00076338" "01695" "Unknown" "" "Stargardt disease; At 46 years of age: OD 20/400, OS 20/400, Anterior segment examination was unremarkable and applanation tonometry measured 12 mmHg OD and 13 mmHg OS. Posterior segment examination and autofluorescence imaging were significant for multifocal small atrophic lesions confined to the fovea OU" "17y" "" "visual acuity loss" "" "" "" "" "" "" "" ""
"0000056114" "00420" "00076339" "01695" "Unknown" "" "Stargardt disease; classic Stargardt findings" "14y" "" "unknown" "" "" "" "" "" "" "" ""
"0000056115" "00420" "00076340" "01695" "Unknown" "" "Stargardt disease; bilateral central vision loss, macular dystrophy and/or atrophy (beaten bronze appearance or large patch of atrophy)" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056116" "00420" "00076341" "01695" "Unknown" "" "Stargardt disease; bilateral central vision loss, macular dystrophy and/or atrophy (beaten bronze appearance or large patch of atrophy)" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056117" "00420" "00076342" "01695" "Unknown" "" "Stargardt disease; bilateral central vision loss, macular dystrophy and/or atrophy (beaten bronze appearance or large patch of atrophy)" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056118" "00420" "00076343" "01695" "Unknown" "" "Stargardt disease; bilateral central vision loss, macular dystrophy and/or atrophy (beaten bronze appearance or large patch of atrophy)" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056119" "00420" "00076344" "01695" "Unknown" "" "Stargardt disease; bilateral central vision loss, macular dystrophy and/or atrophy (beaten bronze appearance or large patch of atrophy); At an age between 20 and 35: appearance in the first or second decade of life, bilateral progressive central vision loss, macular atrophy/dystrophy, noteworthy central vision loss; y30: visual acuity 0.1, small atrophic-appearing foveal lesion and localized perifoveal yellowish-white flecks, inner-outer segment junction loss in the foveal area." "<20y" "" "unknown" "" "" "" "" "" "" "" ""
"0000056120" "00420" "00076345" "01695" "Unknown" "" "Stargardt disease; bilateral central vision loss, macular dystrophy and/or atrophy (beaten bronze appearance or large patch of atrophy)" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056121" "00420" "00076346" "01695" "Unknown" "" "Stargardt disease; bilateral central vision loss, macular dystrophy and/or atrophy (beaten bronze appearance or large patch of atrophy)" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056122" "00420" "00076347" "01695" "Unknown" "" "Stargardt disease; bilateral central vision loss, macular dystrophy and/or atrophy (beaten bronze appearance or large patch of atrophy)" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056123" "00420" "00076348" "01695" "Unknown" "" "Stargardt disease; bilateral central vision loss, macular dystrophy and/or atrophy (beaten bronze appearance or large patch of atrophy); At an age between 20 and 35: appearance in the first or second decade of life, bilateral progressive central vision loss, macular atrophy/dystrophy, noteworthy central vision loss." "<20y" "" "unknown" "" "" "" "" "" "" "" ""
"0000056124" "00420" "00076349" "01695" "Unknown" "" "Stargardt disease; bilateral central vision loss, macular dystrophy and/or atrophy (beaten bronze appearance or large patch of atrophy)" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056125" "00420" "00076350" "01695" "Unknown" "" "Stargardt disease; bilateral central vision loss, macular dystrophy and/or atrophy (beaten bronze appearance or large patch of atrophy); At an age between 20 and 35: appearance in the first or second decade of life, bilateral progressive central vision loss, macular atrophy/dystrophy, noteworthy central vision loss." "<21y" "" "unknown" "" "" "" "" "" "" "" ""
"0000056126" "00420" "00076351" "01695" "Unknown" "" "Stargardt disease; bilateral central vision loss, macular dystrophy and/or atrophy (beaten bronze appearance or large patch of atrophy)" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056127" "00420" "00076352" "01695" "Unknown" "" "Stargardt disease; bilateral central vision loss, macular dystrophy and/or atrophy (beaten bronze appearance or large patch of atrophy)" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056128" "00420" "00076353" "01695" "Unknown" "" "Stargardt disease; bilateral central vision loss, macular dystrophy and/or atrophy (beaten bronze appearance or large patch of atrophy)" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056129" "00420" "00076354" "01695" "Unknown" "" "Stargardt disease; bilateral central vision loss, macular dystrophy and/or atrophy (beaten bronze appearance or large patch of atrophy)" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056130" "00420" "00076355" "01695" "Unknown" "" "Stargardt disease; bilateral central vision loss, macular dystrophy and/or atrophy (beaten bronze appearance or large patch of atrophy)" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056131" "00420" "00076356" "01695" "Unknown" "" "Stargardt disease; bilateral central vision loss, macular dystrophy and/or atrophy (beaten bronze appearance or large patch of atrophy)" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056132" "00420" "00076357" "01695" "Unknown" "" "Stargardt disease; bilateral central vision loss, macular dystrophy and/or atrophy (beaten bronze appearance or large patch of atrophy); At an age between 20 and 35: appearance in the first or second decade of life, bilateral progressive central vision loss, macular atrophy/dystrophy, noteworthy central vision loss." "<20y" "" "unknown" "" "" "" "" "" "" "" ""
"0000056133" "00420" "00076358" "01695" "Unknown" "" "Stargardt disease; bilateral central vision loss, macular dystrophy and/or atrophy (beaten bronze appearance or large patch of atrophy)" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056134" "00420" "00076359" "01695" "Unknown" "" "Stargardt disease; bilateral central vision loss, macular dystrophy and/or atrophy (beaten bronze appearance or large patch of atrophy)" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056135" "00420" "00076360" "01695" "Unknown" "" "Stargardt disease; bilateral central vision loss, macular dystrophy and/or atrophy (beaten bronze appearance or large patch of atrophy)" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056136" "00420" "00076361" "01695" "Unknown" "" "Stargardt disease; bilateral central vision loss, macular dystrophy and/or atrophy (beaten bronze appearance or large patch of atrophy)" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056137" "00420" "00076362" "01695" "Unknown" "" "Stargardt disease; bilateral central vision loss, macular dystrophy and/or atrophy (beaten bronze appearance or large patch of atrophy); At an age between 20 and 35: appearance in the first or second decade of life, bilateral progressive central vision loss, macular atrophy/dystrophy, noteworthy central vision loss." "<20y" "" "unknown" "" "" "" "" "" "" "" ""
"0000056138" "00420" "00076363" "01695" "Unknown" "" "Stargardt disease; bilateral central vision loss, macular dystrophy and/or atrophy (beaten bronze appearance or large patch of atrophy)" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056139" "00420" "00076364" "01695" "Unknown" "" "Stargardt disease; bilateral central vision loss, macular dystrophy and/or atrophy (beaten bronze appearance or large patch of atrophy)" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056140" "00420" "00076365" "01695" "Unknown" "" "Stargardt disease; bilateral central vision loss, macular dystrophy and/or atrophy (beaten bronze appearance or large patch of atrophy)" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056141" "00420" "00076366" "01695" "Unknown" "" "Stargardt disease; bilateral central vision loss, macular dystrophy and/or atrophy (beaten bronze appearance or large patch of atrophy)" "<23y" "" "unknown" "" "" "" "" "" "" "" ""
"0000056142" "00420" "00076367" "01695" "Unknown" "" "Stargardt disease; bilateral central vision loss, macular dystrophy and/or atrophy (beaten bronze appearance or large patch of atrophy)" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056143" "00420" "00076368" "01695" "Unknown" "" "Stargardt disease; bilateral central vision loss, macular dystrophy and/or atrophy (beaten bronze appearance or large patch of atrophy)" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056144" "00420" "00076369" "01695" "Unknown" "" "Stargardt disease; bilateral central vision loss, macular dystrophy and/or atrophy (beaten bronze appearance or large patch of atrophy)" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056145" "00420" "00076370" "01695" "Unknown" "" "Stargardt disease; bilateral central vision loss, macular dystrophy and/or atrophy (beaten bronze appearance or large patch of atrophy)" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056146" "00420" "00076371" "01695" "Unknown" "" "Stargardt disease; bilateral central vision loss, macular dystrophy and/or atrophy (beaten bronze appearance or large patch of atrophy)" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056147" "00420" "00076372" "01695" "Unknown" "" "Stargardt disease; bilateral central vision loss, macular dystrophy and/or atrophy (beaten bronze appearance or large patch of atrophy)" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056148" "00420" "00076373" "01695" "Unknown" "" "Stargardt disease; bilateral central vision loss, macular dystrophy and/or atrophy (beaten bronze appearance or large patch of atrophy); At an age between 20 and 35: appearance in the first or second decade of life, bilateral progressive central vision loss, macular atrophy/dystrophy, noteworthy central vision loss." "<20y" "" "unknown" "" "" "" "" "" "" "" ""
"0000056149" "00420" "00076374" "01695" "Unknown" "" "Stargardt disease; bilateral central vision loss, macular dystrophy and/or atrophy (beaten bronze appearance or large patch of atrophy)" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056150" "00420" "00076375" "01695" "Unknown" "" "Stargardt disease; bilateral central vision loss, macular dystrophy and/or atrophy (beaten bronze appearance or large patch of atrophy)" "<23y" "" "unknown" "" "" "" "" "" "" "" ""
"0000056151" "00420" "00076376" "01695" "Unknown" "" "Stargardt disease; bilateral central vision loss, macular dystrophy and/or atrophy (beaten bronze appearance or large patch of atrophy)" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056152" "00420" "00076377" "01695" "Unknown" "" "Stargardt disease; bilateral central vision loss, macular dystrophy and/or atrophy (beaten bronze appearance or large patch of atrophy)" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056153" "00420" "00076378" "01695" "Unknown" "" "Stargardt disease; bilateral central vision loss, macular dystrophy and/or atrophy (beaten bronze appearance or large patch of atrophy)" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056154" "00420" "00076379" "01695" "Unknown" "" "Stargardt disease; bilateral central vision loss, macular dystrophy and/or atrophy (beaten bronze appearance or large patch of atrophy)" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056155" "00420" "00076380" "01695" "Unknown" "" "Stargardt disease; bilateral central vision loss, macular dystrophy and/or atrophy (beaten bronze appearance or large patch of atrophy)" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056156" "00420" "00076381" "01695" "Unknown" "" "Stargardt disease; bilateral central vision loss, macular dystrophy and/or atrophy (beaten bronze appearance or large patch of atrophy)" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056157" "00420" "00076382" "01695" "Unknown" "" "Stargardt disease; bilateral central vision loss, macular dystrophy and/or atrophy (beaten bronze appearance or large patch of atrophy)" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056158" "00420" "00076383" "01695" "Unknown" "" "Stargardt disease; bilateral central vision loss, macular dystrophy and/or atrophy (beaten bronze appearance or large patch of atrophy)" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056159" "00420" "00076384" "01695" "Unknown" "" "Stargardt disease; bilateral central vision loss, macular dystrophy and/or atrophy (beaten bronze appearance or large patch of atrophy); At an age between 20 and 35: appearance in the first or second decade of life, bilateral progressive central vision loss, macular atrophy/dystrophy, noteworthy central vision loss." "<20y" "" "unknown" "" "" "" "" "" "" "" ""
"0000056160" "00420" "00076385" "01695" "Unknown" "" "Stargardt disease; bilateral central vision loss, macular dystrophy and/or atrophy (beaten bronze appearance or large patch of atrophy)" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056161" "00420" "00076386" "01695" "Unknown" "" "Stargardt disease; bilateral central vision loss, macular dystrophy and/or atrophy (beaten bronze appearance or large patch of atrophy)" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056162" "00420" "00076387" "01695" "Unknown" "" "Stargardt disease; bilateral central vision loss, macular dystrophy and/or atrophy (beaten bronze appearance or large patch of atrophy)" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056163" "00420" "00076388" "01695" "Unknown" "" "Stargardt disease; bilateral central vision loss, macular dystrophy and/or atrophy (beaten bronze appearance or large patch of atrophy)" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056164" "00420" "00076389" "01695" "Unknown" "" "Stargardt disease; bilateral central vision loss, macular dystrophy and/or atrophy (beaten bronze appearance or large patch of atrophy); At an age between 20 and 35: appearance in the first or second decade of life, bilateral progressive central vision loss, macular atrophy/dystrophy, noteworthy central vision loss." "<20y" "" "unknown" "" "" "" "" "" "" "" ""
"0000056165" "00420" "00076390" "01695" "Unknown" "" "Stargardt disease; bilateral central vision loss, macular dystrophy and/or atrophy (beaten bronze appearance or large patch of atrophy)" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056166" "00420" "00076391" "01695" "Unknown" "" "Stargardt disease; bilateral central vision loss, macular dystrophy and/or atrophy (beaten bronze appearance or large patch of atrophy)" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056167" "00420" "00076392" "01695" "Unknown" "" "Stargardt disease; bilateral central vision loss, macular dystrophy and/or atrophy (beaten bronze appearance or large patch of atrophy)" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056168" "00420" "00076393" "01695" "Unknown" "" "Stargardt disease; bilateral central vision loss, macular dystrophy and/or atrophy (beaten bronze appearance or large patch of atrophy)" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056169" "00420" "00076394" "01695" "Unknown" "" "Stargardt disease; bilateral central vision loss, macular dystrophy and/or atrophy (beaten bronze appearance or large patch of atrophy); At an age between 20 and 35: appearance in the first or second decade of life, bilateral progressive central vision loss, macular atrophy/dystrophy, noteworthy central vision loss." "<20y" "" "unknown" "" "" "" "" "" "" "" ""
"0000056170" "00420" "00076395" "01695" "Unknown" "" "Stargardt disease; bilateral central vision loss, macular dystrophy and/or atrophy (beaten bronze appearance or large patch of atrophy); At an age between 20 and 35: appearance in the first or second decade of life, bilateral progressive central vision loss, macular atrophy/dystrophy, noteworthy central vision loss." "<20y" "" "unknown" "" "" "" "" "" "" "" ""
"0000056171" "00420" "00076396" "01695" "Familial, autosomal recessive" "" "Stargardt disease; bilateral central vision loss, macular dystrophy and/or atrophy (beaten bronze appearance or large patch of atrophy); At an age between 20 and 35: appearance in the first or second decade of life, bilateral progressive central vision loss, macular atrophy/dystrophy, noteworthy central vision loss; y24: visual acuity 0.09, extensive atrophic-appearing RPE changes, extensive loss of inner-outer segment junction (more than 1 disc diameter from the fovea)." "<20y" "" "unknown" "" "" "" "" "" "" "" ""
"0000056172" "00420" "00076397" "01695" "Unknown" "" "Stargardt disease; bilateral central vision loss, macular dystrophy and/or atrophy (beaten bronze appearance or large patch of atrophy)" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056173" "00420" "00076398" "01695" "Unknown" "" "Stargardt disease; bilateral central vision loss, macular dystrophy and/or atrophy (beaten bronze appearance or large patch of atrophy)" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056174" "00420" "00076399" "01695" "Unknown" "" "Stargardt disease; bilateral central vision loss, macular dystrophy and/or atrophy (beaten bronze appearance or large patch of atrophy)" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056175" "00420" "00076400" "01695" "Unknown" "" "Stargardt disease; bilateral central vision loss, macular dystrophy and/or atrophy (beaten bronze appearance or large patch of atrophy); At an age between 20 and 35: appearance in the first or second decade of life, bilateral progressive central vision loss, macular atrophy/dystrophy, noteworthy central vision loss." "<20y" "" "unknown" "" "" "" "" "" "" "" ""
"0000056176" "00420" "00076401" "01695" "Unknown" "" "Stargardt disease; bilateral central vision loss, macular dystrophy and/or atrophy (beaten bronze appearance or large patch of atrophy)" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056177" "00420" "00076402" "01695" "Unknown" "" "Stargardt disease; bilateral central vision loss, macular dystrophy and/or atrophy (beaten bronze appearance or large patch of atrophy)" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056178" "00420" "00076403" "01695" "Unknown" "" "Stargardt disease; bilateral central vision loss, macular dystrophy and/or atrophy (beaten bronze appearance or large patch of atrophy)" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056179" "00420" "00076404" "01695" "Unknown" "" "Stargardt disease; bilateral central vision loss, macular dystrophy and/or atrophy (beaten bronze appearance or large patch of atrophy)" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056180" "00420" "00076405" "01695" "Unknown" "" "Stargardt disease; bilateral central vision loss, macular dystrophy and/or atrophy (beaten bronze appearance or large patch of atrophy); At an age between 20 and 35: appearance in the first or second decade of life, bilateral progressive central vision loss, macular atrophy/dystrophy, noteworthy central vision loss." "<20y" "" "unknown" "" "" "" "" "" "" "" ""
"0000056181" "00420" "00076406" "01695" "Unknown" "" "Stargardt disease; bilateral central vision loss, macular dystrophy and/or atrophy (beaten bronze appearance or large patch of atrophy)" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056182" "00420" "00076407" "01695" "Unknown" "" "Stargardt disease; bilateral central vision loss, macular dystrophy and/or atrophy (beaten bronze appearance or large patch of atrophy)" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056183" "00420" "00076408" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056184" "00420" "00076409" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056185" "00420" "00076410" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056186" "00420" "00076411" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056187" "00420" "00076412" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056188" "00420" "00076413" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056189" "00420" "00076414" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056190" "00420" "00076415" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056191" "00420" "00076416" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056192" "00420" "00076417" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056193" "00420" "00076418" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056194" "00420" "00076419" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056195" "00420" "00076420" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056196" "00420" "00076421" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056197" "00420" "00076422" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056198" "00420" "00076423" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056199" "00420" "00076424" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056200" "00420" "00076425" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056201" "00420" "00076426" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056202" "00420" "00076427" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056203" "00420" "00076428" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056204" "00420" "00076429" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056205" "00420" "00076430" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056206" "00420" "00076431" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056207" "00420" "00076432" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056208" "00420" "00076433" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056209" "00420" "00076434" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056210" "00420" "00076435" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056211" "00420" "00076436" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056212" "00420" "00076437" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056213" "00420" "00076438" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056214" "00420" "00076439" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056215" "00420" "00076440" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056216" "00420" "00076441" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056217" "00420" "00076442" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056218" "00420" "00076443" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056219" "00420" "00076444" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056220" "00420" "00076445" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056221" "00420" "00076446" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056222" "00420" "00076447" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056223" "00420" "00076448" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056224" "00420" "00076449" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056225" "00420" "00076450" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056226" "00420" "00076451" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056227" "00420" "00076452" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056228" "00420" "00076453" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056229" "00420" "00076454" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056230" "00420" "00076455" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056231" "00420" "00076456" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056232" "00420" "00076457" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056233" "00420" "00076458" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056234" "00420" "00076459" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056235" "00420" "00076460" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056236" "00420" "00076461" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056237" "00420" "00076462" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056238" "00420" "00076463" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056239" "00420" "00076464" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056240" "00420" "00076465" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056241" "00420" "00076466" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056242" "00420" "00076467" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056243" "00420" "00076468" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056244" "00420" "00076469" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056245" "00420" "00076470" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056246" "00420" "00076471" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056247" "00420" "00076472" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056248" "00420" "00076473" "01695" "Familial, autosomal recessive" "" "Stargardt disease; At age 26: visual acuity of 10/100 in both eyes. Funduscopy revealed a maculopathy with RPE atrophy and hyperpigmentation and a few central yellowish flecks. . A slight temporal papillary pallor was present. Static perimetry could not reveal central scotomas, but shallow relative peripheral scotomas in both eyes. The full-field ERG response showed slightly reduced—but still within the normal range—amplitudes for rod, mixed cone-rod, cone single flash, and cone flicker, respectively." "14y" "" "visual acuity loss, photophobia, myopia, and astigmatism" "" "" "" "" "" "" "" ""
"0000056249" "04214" "00076474" "01695" "Familial, autosomal recessive" "" "retinitis pigmentosa; Reduced visual acuity (10/100 right eye, 20/100 left eye) and diminished visual fields, hyperopia, astigmatism, and nystagmus. Anterior segments were normal. Funduscopy revealed roundish pigments distributed across the entire retina including peripheral retina, posterior pole, and macular region. The retinal vessels showed filliform constriction, and the optic disc was normal. Visual fields were concentrically constricted with small remaining central and nasal islands (less than 10 degrees). ERG responses (photopic and scotopic) were not discernible from noise anymore. Pigment spots homogeneously scattered through the retina with preservation of the PPRPE" "2y" "" "At 2: deficit of the peripheral visual field, at 14: night vision deficits and reduction of central visual actuity." "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000056250" "00420" "00076475" "01695" "Unknown" "" "Stargardt disease; Decreased foveal autofluorescence without a surrounding ring of increased autofluorescence, visual acuity: OD 20/25, OS 20/40." "20y" "" "decreased visual acuity" "" "" "" "" "" "" "" ""
"0000056251" "00420" "00076476" "01695" "Unknown" "" "Stargardt disease; Photoreceptor loss, thinner ONL and RPE atrophy Absolute scotoma in the central 4 degrees OD and in the central 6 degrees OS, eccentric PRL (superior retina), decreased foveal autofluorescence without a surrounding ring of increased autofluorescence, visual acuity: OD 20/200, OS 20/150." "49y" "" "decreased visual acuity" "" "" "" "" "" "" "" ""
"0000056252" "00420" "00076477" "01695" "Unknown" "" "Stargardt disease; Absolute scotoma in the central 6 degrees in both eyes, eccentric PRL (superior retina), presence of a ring of increased autofluorescence surrounding an area of decreased autofluorescence, visual acuity: OD 20/70, OS 20/70." "19y" "" "decreased visual acuity" "" "" "" "" "" "" "" ""
"0000056253" "00420" "00076478" "01695" "Unknown" "" "Stargardt disease; Decreased foveal autofluorescence without a surrounding ring of increased autofluorescence, visual acuity: OD 20/200, OS 20/200." "17y" "" "decreased visual acuity" "" "" "" "" "" "" "" ""
"0000056254" "00420" "00076479" "01695" "Unknown" "" "Stargardt disease; Decreased sensitivity by 6 dB in the central 2 degrees in both eyes, foveal fixation, decreased foveal autofluorescence without a surrounding ring of increased autofluorescence, visual acuity: OD 20/25, OS 20/30." "28y" "" "decreased visual acuity" "" "" "" "" "" "" "" ""
"0000056255" "00420" "00076480" "01695" "Unknown" "" "Stargardt disease; Decreased sensitivity by 9 dB OD and 11 dB OS in the central 2 degrees, foveal fixation, decreased foveal autofluorescence without a surrounding ring of increased autofluorescence, visual acuity: OD 20/30, OS 20/40." "28y" "" "decreased visual acuity" "" "" "" "" "" "" "" ""
"0000056256" "00420" "00076481" "01695" "Unknown" "" "Stargardt disease; Photoreceptor loss (foveal optical gap), thinner ONL and normal RPE. Decreased sensitivity by 8 dB in the central 2 degrees in both eyes, eccentric PRL (superior retina), speckled macular appearance, visual acuity: OD 20/200, OS 20/400." "14y" "" "decreased visual acuity" "" "" "" "" "" "" "" ""
"0000056257" "00420" "00076482" "01695" "Unknown" "" "Stargardt disease; Photoreceptor disorganization, normal ONL and normal RPE. Decreased sensitivity by 6 dB in the central 2 degrees in both eyes, foveal fixation, presence of a ring of increased autofluorescence surrounding an area of decreased autofluorescence, visual acuity: OD 20/20, OS 20/25." "14y" "" "decreased visual acuity" "" "" "" "" "" "" "" ""
"0000056258" "00420" "00076483" "01695" "Unknown" "" "Stargardt disease; Photoreceptor loss, thinner ONL and RPE atrophy Absolute scotoma in the central 2 degrees in both eyes, eccentric PRL (superior retina), speckled macular appearance, visual acuity: OD 20/100, OS 20/100; y25, visual acuity OD 20/150, OS 20/150, bull\'s eye maculopathy." "17y" "" "decreased visual acuity" "" "" "" "" "" "" "" ""
"0000056259" "00420" "00076484" "01695" "Unknown" "" "Stargardt disease; Photoreceptor loss (foveal optical gap), thinner ONL and normal RPE. Absolute scotoma in the central 2 degrees OD and decreased sensitivity by 18 dB in the central 2 degrees OS, eccentric PRL (superior retina), presence of a ring of increased autofluorescence surrounding an area of decreased autofluorescence, visual acuity: OD 20/40, OS 20/25.; y20, visual acuity OD 20/150, OS 20/150, bull\'s eye maculopathy." "14y" "" "decreased visual acuity" "" "" "" "" "" "" "" ""
"0000056260" "00420" "00076485" "01695" "Unknown" "" "Stargardt disease; Photoreceptor loss, thinner ONL and RPE atrophy , decreased foveal autofluorescence without a surrounding ring of increased autofluorescence, visual acuity: OD 20/200, OS 20/150." "28y" "" "decreased visual acuity" "" "" "" "" "" "" "" ""
"0000056261" "00420" "00076486" "01695" "Unknown" "" "Stargardt disease; Decreased foveal autofluorescence without a surrounding ring of increased autofluorescence, visual acuity: OD 20/80, OS 20/25." "25y" "" "decreased visual acuity" "" "" "" "" "" "" "" ""
"0000056262" "00420" "00076487" "01695" "Unknown" "" "Stargardt disease; Decreased foveal autofluorescence without a surrounding ring of increased autofluorescence, visual acuity: OD 20/800, OS 20/60." "67y" "" "decreased visual acuity" "" "" "" "" "" "" "" ""
"0000056263" "00420" "00076488" "01695" "Unknown" "" "Stargardt disease; Decreased foveal autofluorescence without a surrounding ring of increased autofluorescence, visual acuity: OD 20/80, OS 20/80." "26y" "" "decreased visual acuity" "" "" "" "" "" "" "" ""
"0000056264" "00420" "00076489" "01695" "Unknown" "" "Stargardt disease; Absolute scotoma in the central 8–10 degrees OD and absolute scotoma in the central 8 degrees OS, eccentric PRL (superior retina), speckled macular appearance, visual acuity: OD 20/400, OS 20/60." "44y" "" "decreased visual acuity" "" "" "" "" "" "" "" ""
"0000056265" "00198" "00076490" "01695" "Familial, autosomal recessive" "" "Stargardt disease or cone-rod dystrophy; At 8 years of age: visual acuity was 20/200 in both eyes with a very mild hypermetropic refractive error, subtle macular mottling of the retinal pigment epithelium, dark choroid, hyperfluorescence around the macular area with pinpoint areas of hyperfluorescence in the posterior pole and in the midperiphery. One year later, visual acuity had decreased to 12/200 and macular pigmentary changes were evident. The proband’s vision continued to deteriorate slowly, and she developed temporal pallor of her optic nerve head as well as peripheral pigmentary changes in a bony spicule pattern. She also developed a fine nystagmus. Her macular areas took on a beaten bronze appearance. y15 she complained of significant difficulties with dark adaptation. An electroretinogram showed no recordable waveforms under scotopic and photopic conditions. y17 her visual acuity was 20/500 OD and 4/200 OS. The peripheral pigmentary changes had become extensive, and her visual fields showed severe peripheral constriction." "8y" "" "progressive reduction of vision" "" "" "" "" "" "" "" ""
"0000056266" "00198" "00076491" "01695" "Familial, autosomal recessive" "" "Stargardt disease or cone-rod dystrophy; A similar clinical course to patient II-1 dark choroid sign on angiography. Her photopic and scotopic electroretinographic responses were recordable but reduced by about 50% in amplitude. When she was last examined y14 years, she had not developed peripheral pigmentary changes, but rather depigmented spots she had in the fundus midperiphery. Her macular areas were atrophic. Her last visual acuity was 20/450 OD and 2/200 OS." "8y" "" "vision loss" "" "" "" "" "" "" "" ""
"0000056267" "00420" "00076492" "01695" "Familial, autosomal recessive" "" "Stargardt disease; severe central fundus changes, visual acuity: OD 1/10, OS 1/10" "7y" "" "unknown" "" "" "" "" "" "" "" ""
"0000056268" "00420" "00076493" "01695" "Familial, autosomal recessive" "" "Stargardt disease; severe central fundus changes, visual acuity: OD 1/10, OS 0.5/10" "14y" "" "unknown" "" "" "" "" "" "" "" ""
"0000056269" "00420" "00076494" "01695" "Familial, autosomal recessive" "" "Stargardt disease; severe central fundus changes, visual acuity: OD 1/10, OS 1/10" "11y" "" "unknown" "" "" "" "" "" "" "" ""
"0000056270" "00420" "00076495" "01695" "Unknown" "" "Stargardt disease; moderate central fundus changes, visual acuity: OD 1,6/10, OS 1,6/10" "6y" "" "unknown" "" "" "" "" "" "" "" ""
"0000056271" "00420" "00076496" "01695" "Unknown" "" "Stargardt disease; severe central fundus changes, visual acuity: OD FC, OS FC" "6y" "" "unknown" "" "" "" "" "" "" "" ""
"0000056272" "00420" "00076497" "01695" "Unknown" "" "Stargardt disease; severe central fundus changes, visual acuity: OD 1/10, OS 1/10" "12y" "" "unknown" "" "" "" "" "" "" "" ""
"0000056273" "00420" "00076498" "01695" "Unknown" "" "Stargardt disease; moderate central fundus changes, visual acuity: OD 1/10, OS 1/10" "14y" "" "unknown" "" "" "" "" "" "" "" ""
"0000056274" "00420" "00076499" "01695" "Unknown" "" "Stargardt disease; moderate central fundus changes, visual acuity: OD 0.5/10, OS 0.5/10" "11y" "" "unknown" "" "" "" "" "" "" "" ""
"0000056275" "00420" "00076500" "01695" "Unknown" "" "Stargardt disease; moderate central fundus changes, visual acuity: OD 0.5/10, OS 1/10" "9y" "" "unknown" "" "" "" "" "" "" "" ""
"0000056276" "00420" "00076501" "01695" "Unknown" "" "Stargardt disease; moderate central fundus changes, visual acuity: OD 0.5/10, OS 1/10" "7y" "" "unknown" "" "" "" "" "" "" "" ""
"0000056277" "00420" "00076502" "01695" "Unknown" "" "Stargardt disease; moderate central fundus changes, visual acuity: OD 1.2/10, OS 1.2/10" "24y" "" "unknown" "" "" "" "" "" "" "" ""
"0000056278" "00420" "00076503" "01695" "Unknown" "" "Stargardt disease; severe central fundus changes, visual acuity: OD FC, OS FC" "9y" "" "unknown" "" "" "" "" "" "" "" ""
"0000056279" "00420" "00076504" "01695" "Unknown" "" "Stargardt disease; moderate central fundus changes, visual acuity: OD 1/10, OS 3/10" "43y" "" "unknown" "" "" "" "" "" "" "" ""
"0000056280" "00420" "00076505" "01695" "Familial" "" "Stargardt disease; moderate central fundus changes, visual acuity: OD 0.5/10, OS 0.5/10" "30y" "" "unknown" "" "" "" "" "" "" "" ""
"0000056281" "00420" "00076506" "01695" "Familial" "" "Stargardt disease; moderate central fundus changes, visual acuity: OD 6/10, OS 8/10" "30y" "" "unknown" "" "" "" "" "" "" "" ""
"0000056282" "00420" "00076507" "01695" "Familial, autosomal recessive" "" "Stargardt disease; severe central fundus changes, visual acuity: OD 1/10, OS 1/10, after only 4 years of disease onset the patient was severely affected and had dramatically reduced visual acuities. The mfERG results revealed severely decreased response amplitudes (almost abolished) within the central 30 degrees of the retina and impaired color vision in all three main chromatic axes." "7y" "" "unknown" "" "" "" "" "" "" "" ""
"0000056283" "00420" "00076508" "01695" "Familial, autosomal recessive" "" "Stargardt disease; severe central fundus changes, visual acuity: OD 1/10, OS 1/10, after only 4 years of disease onset the patient was severely affected and had dramatically reduced visual acuities. The mfERG results revealed severely decreased response amplitudes (almost abolished) within the central 30 degrees of the retina and impaired color vision in all three main chromatic axes." "7y" "" "unknown" "" "" "" "" "" "" "" ""
"0000056284" "00420" "00076509" "01695" "Unknown" "" "Stargardt disease; moderate central fundus changes, visual acuity: OD 2.5/10, OS 1.6/10" "29y" "" "unknown" "" "" "" "" "" "" "" ""
"0000056285" "00420" "00076510" "01695" "Unknown" "" "Stargardt disease; moderate central fundus changes, visual acuity: OD 3/10, OS FC" "25y" "" "unknown" "" "" "" "" "" "" "" ""
"0000056286" "00420" "00076511" "01695" "Unknown" "" "Stargardt disease; mild central fundus changes, visual acuity: OD 2/10, OS 2/10" "9y" "" "unknown" "" "" "" "" "" "" "" ""
"0000056287" "00420" "00076512" "01695" "Unknown" "" "Stargardt disease; moderate central fundus changes, visual acuity: OD 2/10, OS 2/10" "17y" "" "unknown" "" "" "" "" "" "" "" ""
"0000056288" "00420" "00076513" "01695" "Unknown" "" "Stargardt disease; At age 47: localized atrophic-appearing foveal lesion (flecks), visual acuity: OD 20/30-2, OS 20/200" "38y" "" "localized atrophic-appearing foveal lesion (flecks), visual acuity: OD 20/25-2, OS 20/200" "" "" "" "" "" "" "" ""
"0000056289" "00420" "00076514" "01695" "Unknown" "" "Stargardt disease; At age 43: retinal flecks appear throughout the posterior pole, anterior to the vascular arcades and/or nasal to the optic disc, visual acuity: OD 20/60, OS 20/100-2" "18y" "" "localized atrophic-appearing foveal lesion (flecks), visual acuity: OD 20/50, OS 20/60-1" "" "" "" "" "" "" "" ""
"0000056290" "00420" "00076515" "01695" "Unknown" "" "Stargardt disease; At age 46: flecks are almost entirely reabsorbed, visual acuity: OD 20/400, OS 20/400" "30y" "" "retinal flecks appear throughout the posterior pole, anterior to the vascular arcades and/or nasal to the optic disc, visual acuity: OD 20/200, OS 20/200" "" "" "" "" "" "" "" ""
"0000056291" "00420" "00076516" "01695" "Unknown" "" "Stargardt disease; At age 59: retinal flecks appear throughout the posterior pole, anterior to the vascular arcades and/or nasal to the optic disc, visual acuity: OD 20/100-2, OS 20/100-2" "34y" "" "localized atrophic-appearing foveal lesion (flecks), visual acuity: OD 20/200, OS 20/200" "" "" "" "" "" "" "" ""
"0000056292" "00420" "00076517" "01695" "Unknown" "" "Stargardt disease; At age 31: localized atrophic-appearing foveal lesion (flecks), visual acuity: OD 20/200, OS 20/200-1" "15y" "" "localized atrophic-appearing foveal lesion (flecks), visual acuity: OD 20/70-2, OS 20/100-2" "" "" "" "" "" "" "" ""
"0000056293" "00420" "00076518" "01695" "Unknown" "" "Stargardt disease; At age 48: localized atrophic-appearing foveal lesion (flecks), visual acuity: OD 20/200, OS 20/200" "31y" "" "localized atrophic-appearing foveal lesion (flecks), visual acuity: OD 20/25-1, OS 20/30" "" "" "" "" "" "" "" ""
"0000056294" "00420" "00076519" "01695" "Unknown" "" "Stargardt disease; At age 29: localized atrophic-appearing foveal lesion (flecks), visual acuity: OD 20/200-1, OS 20/50" "22y" "" "localized atrophic-appearing foveal lesion (flecks), visual acuity: OD 20/50-2, OS 20/30" "" "" "" "" "" "" "" ""
"0000056295" "00198" "00076520" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy; 20 patients were analyzed, of which 19 had Stargardt disease and 1 Cone-Rod dystrophy. Which patient had which phenotype is not clarified. Criteria used for Stargardt disease: bilateral central vision loss with a beaten-bronze appearance and/or the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery; a typical dark choroid observed by fluorescein angiography. Criteria used for CRD: blurred central vision without a history of night blindness, poor visual acuity, impairment of color vision, funduscopic evidence of atrophic macular degeneration, peripheral disturbances including pigment clumping and/or pigment epithelial thinning, and greater or earlier loss in cone than in rod ERG amplitude." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056296" "00198" "00076521" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy; 20 patients were analyzed, of which 19 had Stargardt disease and 1 Cone-Rod dystrophy. Which patient had which phenotype is not clarified. Criteria used for Stargardt disease: bilateral central vision loss with a beaten-bronze appearance and/or the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery; a typical dark choroid observed by fluorescein angiography. Criteria used for CRD: blurred central vision without a history of night blindness, poor visual acuity, impairment of color vision, funduscopic evidence of atrophic macular degeneration, peripheral disturbances including pigment clumping and/or pigment epithelial thinning, and greater or earlier loss in cone than in rod ERG amplitude." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056297" "00420" "00076522" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "11y" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000056298" "00420" "00076523" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "24y" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000056299" "00420" "00076524" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "14y" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000056300" "00420" "00076525" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000056301" "00420" "00076526" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "8y" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000056302" "00198" "00076527" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy; 20 patients were analyzed, of which 19 had Stargardt disease and 1 Cone-Rod dystrophy. Which patient had which phenotype is not clarified. Criteria used for Stargardt disease: bilateral central vision loss with a beaten-bronze appearance and/or the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery; a typical dark choroid observed by fluorescein angiography. Criteria used for CRD: blurred central vision without a history of night blindness, poor visual acuity, impairment of color vision, funduscopic evidence of atrophic macular degeneration, peripheral disturbances including pigment clumping and/or pigment epithelial thinning, and greater or earlier loss in cone than in rod ERG amplitude." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056303" "00420" "00076528" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "9y" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000056304" "00420" "00076529" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "8y" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000056305" "00420" "00076530" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "32y" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000056306" "00420" "00076531" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000056307" "00420" "00076532" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "16y" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000056308" "00420" "00076533" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "9y" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000056309" "00420" "00076534" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "55y" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000056310" "00420" "00076535" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "13y" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000056311" "00420" "00076536" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "23y" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000056312" "00198" "00076537" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa; Of the patients, 67,7% had Stargardt disease, 27,7% Cone-rod dystrophy, 4,6% had retinitis pigmentosa." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056313" "00198" "00076538" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa; Of the patients, 67,7% had Stargardt disease, 27,7% Cone-rod dystrophy, 4,6% had retinitis pigmentosa." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056314" "00198" "00076539" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa; Of the patients, 67,7% had Stargardt disease, 27,7% Cone-rod dystrophy, 4,6% had retinitis pigmentosa." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056315" "00198" "00076540" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa; Of the patients, 67,7% had Stargardt disease, 27,7% Cone-rod dystrophy, 4,6% had retinitis pigmentosa." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056316" "00198" "00076541" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa; Of the patients, 67,7% had Stargardt disease, 27,7% Cone-rod dystrophy, 4,6% had retinitis pigmentosa." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056317" "00198" "00076542" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa; Of the patients, 67,7% had Stargardt disease, 27,7% Cone-rod dystrophy, 4,6% had retinitis pigmentosa." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056318" "00198" "00076543" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa; Of the patients, 67,7% had Stargardt disease, 27,7% Cone-rod dystrophy, 4,6% had retinitis pigmentosa." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056319" "00198" "00076544" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa; Of the patients, 67,7% had Stargardt disease, 27,7% Cone-rod dystrophy, 4,6% had retinitis pigmentosa." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056320" "00198" "00076545" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa; Of the patients, 67,7% had Stargardt disease, 27,7% Cone-rod dystrophy, 4,6% had retinitis pigmentosa." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056321" "00198" "00076546" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa; Of the patients, 67,7% had Stargardt disease, 27,7% Cone-rod dystrophy, 4,6% had retinitis pigmentosa." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056322" "00198" "00076547" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa; Of the patients, 67,7% had Stargardt disease, 27,7% Cone-rod dystrophy, 4,6% had retinitis pigmentosa." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056323" "00198" "00076548" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa; Of the patients, 67,7% had Stargardt disease, 27,7% Cone-rod dystrophy, 4,6% had retinitis pigmentosa." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056324" "00198" "00076549" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa; Of the patients, 67,7% had Stargardt disease, 27,7% Cone-rod dystrophy, 4,6% had retinitis pigmentosa." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056325" "00198" "00076550" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa; Of the patients, 67,7% had Stargardt disease, 27,7% Cone-rod dystrophy, 4,6% had retinitis pigmentosa." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056326" "00198" "00076551" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa; Of the patients, 67,7% had Stargardt disease, 27,7% Cone-rod dystrophy, 4,6% had retinitis pigmentosa." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056327" "00198" "00076552" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa; Of the patients, 67,7% had Stargardt disease, 27,7% Cone-rod dystrophy, 4,6% had retinitis pigmentosa." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056328" "00198" "00076553" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa; Of the patients, 67,7% had Stargardt disease, 27,7% Cone-rod dystrophy, 4,6% had retinitis pigmentosa." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056329" "00198" "00076554" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa; Of the patients, 67,7% had Stargardt disease, 27,7% Cone-rod dystrophy, 4,6% had retinitis pigmentosa." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056330" "00198" "00076555" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa; Of the patients, 67,7% had Stargardt disease, 27,7% Cone-rod dystrophy, 4,6% had retinitis pigmentosa." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056331" "00198" "00076556" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa; Of the patients, 67,7% had Stargardt disease, 27,7% Cone-rod dystrophy, 4,6% had retinitis pigmentosa." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056332" "00198" "00076557" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa; Of the patients, 67,7% had Stargardt disease, 27,7% Cone-rod dystrophy, 4,6% had retinitis pigmentosa." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056333" "00198" "00076558" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa; Of the patients, 67,7% had Stargardt disease, 27,7% Cone-rod dystrophy, 4,6% had retinitis pigmentosa." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056334" "00198" "00076559" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa; Of the patients, 67,7% had Stargardt disease, 27,7% Cone-rod dystrophy, 4,6% had retinitis pigmentosa." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056335" "00198" "00076560" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa; Of the patients, 67,7% had Stargardt disease, 27,7% Cone-rod dystrophy, 4,6% had retinitis pigmentosa." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056336" "00198" "00076561" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa; Of the patients, 67,7% had Stargardt disease, 27,7% Cone-rod dystrophy, 4,6% had retinitis pigmentosa." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056337" "00198" "00076562" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa; Of the patients, 67,7% had Stargardt disease, 27,7% Cone-rod dystrophy, 4,6% had retinitis pigmentosa." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056338" "00198" "00076563" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa; Of the patients, 67,7% had Stargardt disease, 27,7% Cone-rod dystrophy, 4,6% had retinitis pigmentosa." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056339" "00198" "00076564" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa; Of the patients, 67,7% had Stargardt disease, 27,7% Cone-rod dystrophy, 4,6% had retinitis pigmentosa." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056340" "00198" "00076565" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa; Of the patients, 67,7% had Stargardt disease, 27,7% Cone-rod dystrophy, 4,6% had retinitis pigmentosa." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056341" "00198" "00076566" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa; Of the patients, 67,7% had Stargardt disease, 27,7% Cone-rod dystrophy, 4,6% had retinitis pigmentosa." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056342" "00198" "00076567" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa; Of the patients, 67,7% had Stargardt disease, 27,7% Cone-rod dystrophy, 4,6% had retinitis pigmentosa." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056343" "00198" "00076568" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa; Of the patients, 67,7% had Stargardt disease, 27,7% Cone-rod dystrophy, 4,6% had retinitis pigmentosa." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056344" "00198" "00076569" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa; Of the patients, 67,7% had Stargardt disease, 27,7% Cone-rod dystrophy, 4,6% had retinitis pigmentosa." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056345" "00198" "00076570" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa; Of the patients, 67,7% had Stargardt disease, 27,7% Cone-rod dystrophy, 4,6% had retinitis pigmentosa." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056346" "00198" "00076571" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa; Of the patients, 67,7% had Stargardt disease, 27,7% Cone-rod dystrophy, 4,6% had retinitis pigmentosa." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056347" "00198" "00076572" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa; Of the patients, 67,7% had Stargardt disease, 27,7% Cone-rod dystrophy, 4,6% had retinitis pigmentosa." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056348" "00198" "00076573" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa; Of the patients, 67,7% had Stargardt disease, 27,7% Cone-rod dystrophy, 4,6% had retinitis pigmentosa." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056349" "00198" "00076574" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa; Of the patients, 67,7% had Stargardt disease, 27,7% Cone-rod dystrophy, 4,6% had retinitis pigmentosa." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056350" "00198" "00076575" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa; Of the patients, 67,7% had Stargardt disease, 27,7% Cone-rod dystrophy, 4,6% had retinitis pigmentosa." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056351" "00198" "00076576" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa; Of the patients, 67,7% had Stargardt disease, 27,7% Cone-rod dystrophy, 4,6% had retinitis pigmentosa." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056352" "00198" "00076577" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa; Of the patients, 67,7% had Stargardt disease, 27,7% Cone-rod dystrophy, 4,6% had retinitis pigmentosa." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056353" "00198" "00076578" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa; Of the patients, 67,7% had Stargardt disease, 27,7% Cone-rod dystrophy, 4,6% had retinitis pigmentosa." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056354" "00198" "00076579" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa; Of the patients, 67,7% had Stargardt disease, 27,7% Cone-rod dystrophy, 4,6% had retinitis pigmentosa." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056355" "00198" "00076580" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa; Of the patients, 67,7% had Stargardt disease, 27,7% Cone-rod dystrophy, 4,6% had retinitis pigmentosa." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056356" "00198" "00076581" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa; Of the patients, 67,7% had Stargardt disease, 27,7% Cone-rod dystrophy, 4,6% had retinitis pigmentosa." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056357" "00198" "00076582" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa; Of the patients, 67,7% had Stargardt disease, 27,7% Cone-rod dystrophy, 4,6% had retinitis pigmentosa." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056358" "00198" "00076583" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa; Of the patients, 67,7% had Stargardt disease, 27,7% Cone-rod dystrophy, 4,6% had retinitis pigmentosa." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056359" "00198" "00076584" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa; Of the patients, 67,7% had Stargardt disease, 27,7% Cone-rod dystrophy, 4,6% had retinitis pigmentosa." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056360" "00198" "00076585" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa; Of the patients, 67,7% had Stargardt disease, 27,7% Cone-rod dystrophy, 4,6% had retinitis pigmentosa." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056361" "00198" "00076586" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa; Of the patients, 67,7% had Stargardt disease, 27,7% Cone-rod dystrophy, 4,6% had retinitis pigmentosa." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056362" "00198" "00076587" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa; Of the patients, 67,7% had Stargardt disease, 27,7% Cone-rod dystrophy, 4,6% had retinitis pigmentosa." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056363" "00198" "00076588" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa; Of the patients, 67,7% had Stargardt disease, 27,7% Cone-rod dystrophy, 4,6% had retinitis pigmentosa." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056364" "00198" "00076589" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa; Of the patients, 67,7% had Stargardt disease, 27,7% Cone-rod dystrophy, 4,6% had retinitis pigmentosa." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056365" "00198" "00076590" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa; Of the patients, 67,7% had Stargardt disease, 27,7% Cone-rod dystrophy, 4,6% had retinitis pigmentosa." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056366" "00198" "00076591" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa; Of the patients, 67,7% had Stargardt disease, 27,7% Cone-rod dystrophy, 4,6% had retinitis pigmentosa." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056367" "00198" "00076592" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa; Of the patients, 67,7% had Stargardt disease, 27,7% Cone-rod dystrophy, 4,6% had retinitis pigmentosa." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056368" "00198" "00076593" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa; Of the patients, 67,7% had Stargardt disease, 27,7% Cone-rod dystrophy, 4,6% had retinitis pigmentosa." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056369" "00198" "00076594" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa; Of the patients, 67,7% had Stargardt disease, 27,7% Cone-rod dystrophy, 4,6% had retinitis pigmentosa." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056370" "00198" "00076595" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa; Of the patients, 67,7% had Stargardt disease, 27,7% Cone-rod dystrophy, 4,6% had retinitis pigmentosa." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056371" "00198" "00076596" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa; Of the patients, 67,7% had Stargardt disease, 27,7% Cone-rod dystrophy, 4,6% had retinitis pigmentosa." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056372" "00198" "00076597" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa; Of the patients, 67,7% had Stargardt disease, 27,7% Cone-rod dystrophy, 4,6% had retinitis pigmentosa." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056373" "00198" "00076598" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa; Of the patients, 67,7% had Stargardt disease, 27,7% Cone-rod dystrophy, 4,6% had retinitis pigmentosa." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056374" "00198" "00076599" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa; Of the patients, 67,7% had Stargardt disease, 27,7% Cone-rod dystrophy, 4,6% had retinitis pigmentosa." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056375" "00198" "00076600" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa; Of the patients, 67,7% had Stargardt disease, 27,7% Cone-rod dystrophy, 4,6% had retinitis pigmentosa." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056376" "00198" "00076601" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa; Of the patients, 67,7% had Stargardt disease, 27,7% Cone-rod dystrophy, 4,6% had retinitis pigmentosa." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056377" "00198" "00076602" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa; Of the patients, 67,7% had Stargardt disease, 27,7% Cone-rod dystrophy, 4,6% had retinitis pigmentosa." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056378" "00198" "00076603" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa; Of the patients, 67,7% had Stargardt disease, 27,7% Cone-rod dystrophy, 4,6% had retinitis pigmentosa." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056379" "00198" "00076604" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa; Of the patients, 67,7% had Stargardt disease, 27,7% Cone-rod dystrophy, 4,6% had retinitis pigmentosa." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056380" "00198" "00076605" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa; Of the patients, 67,7% had Stargardt disease, 27,7% Cone-rod dystrophy, 4,6% had retinitis pigmentosa." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056381" "00198" "00076606" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa; Of the patients, 67,7% had Stargardt disease, 27,7% Cone-rod dystrophy, 4,6% had retinitis pigmentosa." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056382" "00198" "00076607" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa; Of the patients, 67,7% had Stargardt disease, 27,7% Cone-rod dystrophy, 4,6% had retinitis pigmentosa." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056383" "00198" "00076608" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa; Of the patients, 67,7% had Stargardt disease, 27,7% Cone-rod dystrophy, 4,6% had retinitis pigmentosa." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056384" "00198" "00076609" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa; Of the patients, 67,7% had Stargardt disease, 27,7% Cone-rod dystrophy, 4,6% had retinitis pigmentosa." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056385" "00198" "00076610" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa; Of the patients, 67,7% had Stargardt disease, 27,7% Cone-rod dystrophy, 4,6% had retinitis pigmentosa." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056386" "00198" "00076611" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa; pronounced loss of sensitivity, dark choroid, symmetrical cross oval lesion in the macula, irregularities and lumps in the area of the retinal pigment epithelium at the site of lesions, central atrophy," "11y" "" "both sides concentric small whitish yellowish subretinal flecks, avoiding direct area macula, bull\'s eye retinopathy more clearly right than left eye, with altered foveal refle, central destruction retinal pigment epithelium." "" "" "" "" "" "" "" ""
"0000056387" "00058" "00076612" "01695" "Familial, autosomal recessive" "" "cone-rod dystrophy (HP:0000510); At age 17: Central glittering maculopathy and some peripheral fishtail pigment clusters, Small central scotoma, visual acuity of the best eye: 20/200" "15y" "" "unknown" "" "" "" "" "" "" "" ""
"0000056388" "00058" "00076613" "01695" "Familial, autosomal recessive" "" "cone-rod dystrophy (HP:0000510); At age 15: Central glittering maculopathy and some peripheral fishtail pigment clusters, Large central scotoma, visual acuity of the best eye: 20/400" "14y" "" "unknown" "" "" "" "" "" "" "" ""
"0000056389" "00058" "00076614" "01695" "Familial, autosomal recessive" "" "cone-rod dystrophy (HP:0000510); At age 13: Granular macular changes with irregular RPE, visual acuity of the best eye: 20/300" "8y" "" "unknown" "" "" "" "" "" "" "" ""
"0000056390" "00058" "00076615" "01695" "Familial, autosomal recessive" "" "cone-rod dystrophy (HP:0000510); At age 48: Advanced pigmentary maculopathy, Central scotoma and decreased sensitiviy, visual acuity of the best eye: 20/400" "30y" "" "unknown" "" "" "" "" "" "" "" ""
"0000056391" "00420" "00076616" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056392" "00420" "00076617" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056393" "00420" "00076618" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056394" "00420" "00076619" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056395" "00420" "00076620" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056396" "00420" "00076621" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056397" "00420" "00076622" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056398" "00420" "00076623" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056399" "00420" "00076624" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056400" "00420" "00076625" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056401" "00058" "00076626" "01695" "Unknown" "" "cone-rod dystrophy (HP:0000510)" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056402" "00420" "00076627" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056403" "00420" "00076628" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056404" "00420" "00076629" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056405" "00420" "00076630" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056406" "00420" "00076631" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056407" "00420" "00076632" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056408" "00420" "00076633" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056409" "00420" "00076634" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056410" "00420" "00076635" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056411" "00420" "00076636" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056412" "00420" "00076637" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056413" "00420" "00076638" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056414" "00058" "00076639" "01695" "Unknown" "" "cone-rod dystrophy (HP:0000510)" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056415" "04214" "00076640" "01695" "Unknown" "" "retinitis pigmentosa" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000056416" "04214" "00076641" "01695" "Unknown" "" "retinitis pigmentosa" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000056417" "04214" "00076642" "01695" "Unknown" "" "retinitis pigmentosa" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000056418" "00420" "00076643" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056419" "00058" "00076644" "01695" "Unknown" "" "cone-rod dystrophy (HP:0000510)" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056420" "04214" "00076645" "01695" "Unknown" "" "retinitis pigmentosa" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000056421" "04214" "00076646" "01695" "Unknown" "" "retinitis pigmentosa" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000056422" "00420" "00076647" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056423" "00420" "00076648" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056424" "00420" "00076649" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056425" "00420" "00076650" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056426" "00420" "00076651" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056427" "04214" "00076652" "01695" "Unknown" "" "retinitis pigmentosa" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000056428" "00420" "00076653" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056429" "00420" "00076654" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056430" "00420" "00076655" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056431" "00420" "00076656" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056432" "00420" "00076657" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056433" "04214" "00076658" "01695" "Unknown" "" "retinitis pigmentosa" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000056434" "00420" "00076659" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056435" "04214" "00076660" "01695" "Unknown" "" "retinitis pigmentosa" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000056436" "00420" "00076661" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056437" "00420" "00076662" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056438" "00420" "00076663" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056439" "00420" "00076664" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056440" "00058" "00076665" "01695" "Unknown" "" "cone-rod dystrophy (HP:0000510)" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056441" "04214" "00076666" "01695" "Unknown" "" "retinitis pigmentosa" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000056442" "04214" "00076667" "01695" "Unknown" "" "retinitis pigmentosa" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000056443" "04214" "00076668" "01695" "Unknown" "" "retinitis pigmentosa" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000056444" "00420" "00076669" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056445" "00420" "00076670" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056446" "00420" "00076671" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056447" "00420" "00076672" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056448" "00420" "00076673" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056449" "00058" "00076674" "01695" "Unknown" "" "cone-rod dystrophy (HP:0000510)" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056450" "00058" "00076675" "01695" "Unknown" "" "cone-rod dystrophy (HP:0000510)" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056451" "00420" "00076676" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056452" "00420" "00076677" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056453" "00420" "00076678" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056454" "00420" "00076679" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056455" "00420" "00076680" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056456" "00420" "00076681" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056457" "00420" "00076682" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056458" "00420" "00076683" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056459" "00420" "00076684" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056460" "00420" "00076685" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056461" "00420" "00076686" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056462" "04214" "00076687" "01695" "Unknown" "" "retinitis pigmentosa" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000056463" "00420" "00076688" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056464" "00420" "00076689" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056465" "00420" "00076690" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056466" "00420" "00076691" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056467" "00420" "00076692" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056468" "00420" "00076693" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056469" "00420" "00076694" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056470" "00420" "00076695" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056471" "00420" "00076696" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056472" "00420" "00076697" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056473" "00058" "00076698" "01695" "Unknown" "" "cone-rod dystrophy (HP:0000510)" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056474" "04214" "00076699" "01695" "Unknown" "" "retinitis pigmentosa" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000056475" "00420" "00076700" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056476" "04214" "00076701" "01695" "Unknown" "" "retinitis pigmentosa" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000056477" "04214" "00076702" "01695" "Unknown" "" "retinitis pigmentosa" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000056478" "04214" "00076703" "01695" "Unknown" "" "retinitis pigmentosa" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000056479" "00420" "00076704" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056480" "04214" "00076705" "01695" "Unknown" "" "retinitis pigmentosa" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000056481" "00420" "00076706" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056482" "00420" "00076707" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056483" "00420" "00076708" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056484" "00420" "00076709" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056485" "00420" "00076710" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056486" "04214" "00076711" "01695" "Unknown" "" "retinitis pigmentosa" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000056487" "04214" "00076712" "01695" "Unknown" "" "retinitis pigmentosa" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000056488" "04214" "00076713" "01695" "Unknown" "" "retinitis pigmentosa" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000056489" "00420" "00076714" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056490" "04214" "00076715" "01695" "Unknown" "" "retinitis pigmentosa" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000056491" "00420" "00076716" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056492" "00420" "00076717" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056493" "00420" "00076718" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056494" "00420" "00076719" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056495" "00420" "00076720" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056496" "00420" "00076721" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056497" "04214" "00076722" "01695" "Unknown" "" "retinitis pigmentosa" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000056498" "04214" "00076723" "01695" "Unknown" "" "retinitis pigmentosa" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000056499" "04214" "00076724" "01695" "Unknown" "" "retinitis pigmentosa" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000056500" "04214" "00076725" "01695" "Unknown" "" "retinitis pigmentosa" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000056501" "04214" "00076726" "01695" "Unknown" "" "retinitis pigmentosa" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000056502" "00420" "00076727" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056503" "00420" "00076728" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056504" "04214" "00076729" "01695" "Unknown" "" "retinitis pigmentosa" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000056505" "00420" "00076730" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056506" "00420" "00076731" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056507" "00420" "00076732" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056508" "04214" "00076733" "01695" "Unknown" "" "retinitis pigmentosa" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000056509" "00420" "00076734" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056510" "00420" "00076735" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056511" "04214" "00076736" "01695" "Unknown" "" "retinitis pigmentosa" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000056512" "04214" "00076737" "01695" "Unknown" "" "retinitis pigmentosa" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000056513" "04214" "00076738" "01695" "Unknown" "" "retinitis pigmentosa" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000056514" "00420" "00076739" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056515" "00058" "00076740" "01695" "Unknown" "" "cone-rod dystrophy (HP:0000510)" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056516" "00420" "00076741" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056517" "00420" "00076742" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056518" "00420" "00076743" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056519" "00420" "00076744" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056520" "00420" "00076745" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056521" "00420" "00076746" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056522" "00420" "00076747" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056523" "00420" "00076748" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056524" "00420" "00076749" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056525" "04214" "00076750" "01695" "Unknown" "" "retinitis pigmentosa" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000056526" "00420" "00076751" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056527" "00420" "00076752" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056528" "00420" "00076753" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056529" "00420" "00076754" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056530" "00420" "00076755" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056531" "00420" "00076756" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056532" "00420" "00076757" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056533" "04214" "00076758" "01695" "Unknown" "" "retinitis pigmentosa" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000056534" "00420" "00076759" "01695" "Unknown" "" "Stargardt disease; y32: Visual acuity OD 20/70 OS 20/70, flecks in the macula in both eyes, atrophy in the macula in both eyes, normal ERG; y34: Central macular atrophy with parafoveal or perifoveal flecks, visual acuity: OD 20/150, OS 20/100, central scotoma; y37, OD: visual acuity 0.7, atrophy, and flecks predominantly restricted to the central region around the fovea. OS: visual acuity 0.7, atrophy, and flecks predominantly restricted to the central region around the fovea." "19y" "" "visual symptoms or of first ophthalmic consultation where a diagnosis of Stargardt disease" "" "" "" "" "" "" "" ""
"0000056535" "00420" "00076760" "01695" "Unknown" "" "Stargardt disease; y27: Visual acuity OD 20/200 OS 20/200, flecks in the macula in both eyes, atrophy in the macula in both eyes, normal ERG" "8y" "" "visual symptoms or of first ophthalmic consultation where a diagnosis of Stargardt disease" "" "" "" "" "" "" "" ""
"0000056536" "00420" "00076761" "01695" "Unknown" "" "Stargardt disease; y31: Visual acuity OD 20/50 OS 20/30, flecks in the macula in both eyes, atrophy in the macula in both eyes, normal ERG" "28y" "" "visual symptoms or of first ophthalmic consultation where a diagnosis of Stargardt disease" "" "" "" "" "" "" "" ""
"0000056537" "00420" "00076762" "01695" "Unknown" "" "Stargardt disease; y33: Visual acuity OD 20/60 OS 20/50, flecks in the macula in both eyes, atrophy in the macula in both eyes, normal ERG" "28y" "" "visual symptoms or of first ophthalmic consultation where a diagnosis of Stargardt disease" "" "" "" "" "" "" "" ""
"0000056538" "00420" "00076763" "01695" "Unknown" "" "Stargardt disease; y17: Visual acuity OD 20/30 OS 20/25, normal ERG" "14y" "" "visual symptoms or of first ophthalmic consultation where a diagnosis of Stargardt disease" "" "" "" "" "" "" "" ""
"0000056539" "00420" "00076764" "01695" "Unknown" "" "Stargardt disease; y24: Visual acuity OD 20/150 OS 20/200, flecks in the macula in both eyes, atrophy in the macula in both eyes, normal ERG" "14y" "" "visual symptoms or of first ophthalmic consultation where a diagnosis of Stargardt disease" "" "" "" "" "" "" "" ""
"0000056540" "00420" "00076765" "01695" "Unknown" "" "Stargardt disease; y30: Visual acuity OD 20/60 OS 20/50, atrophy in the macula in both eyes, normal ERG" "25y" "" "visual symptoms or of first ophthalmic consultation where a diagnosis of Stargardt disease" "" "" "" "" "" "" "" ""
"0000056541" "00420" "00076766" "01695" "Unknown" "" "Stargardt disease; y21: Visual acuity OD 20/150 OS 20/150, atrophy in the macula in both eyes, normal ERG" "18y" "" "visual symptoms or of first ophthalmic consultation where a diagnosis of Stargardt disease" "" "" "" "" "" "" "" ""
"0000056542" "00420" "00076767" "01695" "Unknown" "" "Stargardt disease; y18: Visual acuity OD 20/150 OS 20/150, atrophy in the macula in both eyes, normal ERG" "15y" "" "visual symptoms or of first ophthalmic consultation where a diagnosis of Stargardt disease" "" "" "" "" "" "" "" ""
"0000056543" "00420" "00076768" "01695" "Unknown" "" "Stargardt disease; y36: Visual acuity OD 20/20 OS 20/60, flecks in the macula, flecks in the extramacular retina in both eyes, atrophy in the macula in both eyes, normal ERG" "31y" "" "visual symptoms or of first ophthalmic consultation where a diagnosis of Stargardt disease" "" "" "" "" "" "" "" ""
"0000056544" "00420" "00076769" "01695" "Unknown" "" "Stargardt disease; y46: Visual acuity OD 20/200 OS 20/200, flecks in the macula in both eyes, atrophy in the macula in both eyes, normal ERG" "22y" "" "visual symptoms or of first ophthalmic consultation where a diagnosis of Stargardt disease" "" "" "" "" "" "" "" ""
"0000056545" "00420" "00076770" "01695" "Unknown" "" "Stargardt disease; y37: Visual acuity OD 20/100 OS 20/60, flecks in the macula, flecks in the extramacular retina in both eyes, atrophy in the macula in both eyes, normal ERG" "27y" "" "visual symptoms or of first ophthalmic consultation where a diagnosis of Stargardt disease" "" "" "" "" "" "" "" ""
"0000056546" "00420" "00076771" "01695" "Unknown" "" "Stargardt disease; y33: Visual acuity OD 20/150 OS 20/150, flecks in the macula in both eyes, atrophy in the macula in both eyes, normal ERG; y45, bull\'s eye maculopathy." "27y" "" "visual symptoms or of first ophthalmic consultation where a diagnosis of Stargardt disease" "" "" "" "" "" "" "" ""
"0000056547" "00420" "00076772" "01695" "Unknown" "" "Stargardt disease; y67: Visual acuity OD 20/40 OS 20/200, flecks in the macula in both eyes, atrophy in the macula in both eyes, normal ERG" "43y" "" "visual symptoms or of first ophthalmic consultation where a diagnosis of Stargardt disease" "" "" "" "" "" "" "" ""
"0000056548" "00420" "00076773" "01695" "Unknown" "" "Stargardt disease; y28: Visual acuity OD 20/200 OS 20/200, peripapillary atrophy in both eyes, flecks in the macula, flecks in the extramacular retina in both eyes, atrophy in the macula in both eyes, normal ERG" "5y" "" "visual symptoms or of first ophthalmic consultation where a diagnosis of Stargardt disease" "" "" "" "" "" "" "" ""
"0000056549" "00420" "00076774" "01695" "Unknown" "" "Stargardt disease; y35: Visual acuity OD Hand movements OS Hand movements, peripapillary atrophy in both eyes, flecks in the extramacular retina in both eyes, atrophy in the macula, atrophy in the extramacular retina in both eyes, relative loss of generalized cone function" "11y" "" "visual symptoms or of first ophthalmic consultation where a diagnosis of Stargardt disease" "" "" "" "" "" "" "" ""
"0000056550" "00420" "00076775" "01695" "Unknown" "" "Stargardt disease; y13: Visual acuity OD 20/150 OS 20/150, peripapillary atrophy in both eyes, flecks in the macula, flecks in the extramacular retina in both eyes, atrophy in the macula in both eyes, relative loss of generalized cone function" "7y" "" "visual symptoms or of first ophthalmic consultation where a diagnosis of Stargardt disease" "" "" "" "" "" "" "" ""
"0000056551" "00420" "00076776" "01695" "Unknown" "" "Stargardt disease; y18: Visual acuity OD 20/150 OS 20/150, peripapillary atrophy in both eyes, flecks in the macula, flecks in the extramacular retina in both eyes, atrophy in the macula in both eyes, relative loss of generalized cone function" "8y" "" "visual symptoms or of first ophthalmic consultation where a diagnosis of Stargardt disease" "" "" "" "" "" "" "" ""
"0000056552" "00420" "00076777" "01695" "Unknown" "" "Stargardt disease; y26: Visual acuity OD 20/400 OS 20/400, peripapillary atrophy in both eyes, flecks in the macula, flecks in the extramacular retina in both eyes, atrophy in the macula in both eyes, relative loss of generalized cone function" "18y" "" "visual symptoms or of first ophthalmic consultation where a diagnosis of Stargardt disease" "" "" "" "" "" "" "" ""
"0000056553" "00420" "00076778" "01695" "Unknown" "" "Stargardt disease; y32: Visual acuity OD Count fingers OS Count fingers, peripapillary atrophy in both eyes, flecks in the macula, flecks in the extramacular retina in both eyes, atrophy in the macula in both eyes, relative loss of generalized cone function" "10y" "" "visual symptoms or of first ophthalmic consultation where a diagnosis of Stargardt disease" "" "" "" "" "" "" "" ""
"0000056554" "00420" "00076779" "01695" "Unknown" "" "Stargardt disease; y41: Visual acuity OD Count fingers OS 20/30, flecks in the macula, flecks in the extramacular retina in both eyes, atrophy in the macula in both eyes, relative loss of generalized cone function" "35y" "" "visual symptoms or of first ophthalmic consultation where a diagnosis of Stargardt disease" "" "" "" "" "" "" "" ""
"0000056555" "00420" "00076780" "01695" "Unknown" "" "Stargardt disease; y27: Visual acuity OD 20/400 OS 20/400, peripapillary atrophy in both eyes, flecks in the macula, flecks in the extramacular retina in both eyes, atrophy in the macula in both eyes, normal ERG to relative loss of generalized cone function" "10y" "" "visual symptoms or of first ophthalmic consultation where a diagnosis of Stargardt disease" "" "" "" "" "" "" "" ""
"0000056556" "00420" "00076781" "01695" "Unknown" "" "Stargardt disease; y26: Visual acuity OD Count fingers OS Count fingers, peripapillary atrophy in both eyes, in both eyes, atrophy in the macula, atrophy in the extramacular retina in both eyes, abnormal rod and cone ERGs" "8y" "" "visual symptoms or of first ophthalmic consultation where a diagnosis of Stargardt disease" "" "" "" "" "" "" "" ""
"0000056557" "00420" "00076782" "01695" "Unknown" "" "Stargardt disease; y63: Visual acuity OD Count fingers OS Hand movements, peripapillary atrophy in both eyes, flecks in the extramacular retina in the right eye, atrophy in the macula, atrophy in the extramacular retina in both eyes, abnormal rod and cone ERGs" "8y" "" "visual symptoms or of first ophthalmic consultation where a diagnosis of Stargardt disease" "" "" "" "" "" "" "" ""
"0000056558" "00420" "00076783" "01695" "Unknown" "" "Stargardt disease; y13: Visual acuity OD 20/200 OS 20/200, peripapillary atrophy in both eyes, flecks in the extramacular retina in both eyes, atrophy in the macula in both eyes, abnormal rod and cone ERGs" "5y" "" "visual symptoms or of first ophthalmic consultation where a diagnosis of Stargardt disease" "" "" "" "" "" "" "" ""
"0000056559" "00420" "00076784" "01695" "Unknown" "" "Stargardt disease; y8: Visual acuity OD 20/200 OS 20/200, flecks in the macula, flecks in the extramacular retina in both eyes, atrophy in the macula in both eyes, abnormal rod and cone ERGs" "6y" "" "visual symptoms or of first ophthalmic consultation where a diagnosis of Stargardt disease" "" "" "" "" "" "" "" ""
"0000056560" "00420" "00076785" "01695" "Unknown" "" "Stargardt disease; y55: Visual acuity OD 20/400 OS 20/400, peripapillary atrophy in both eyes, flecks in the extramacular retina in both eyes, atrophy in the macula, atrophy in the extramacular retina in both eyes, abnormal rod and cone ERGs" "29y" "" "visual symptoms or of first ophthalmic consultation where a diagnosis of Stargardt disease" "" "" "" "" "" "" "" ""
"0000056561" "00420" "00076786" "01695" "Unknown" "" "Stargardt disease; y53: Visual acuity OD 20/400 OS 20/400, peripapillary atrophy in both eyes, atrophy in the macula, atrophy in the extramacular retina in both eyes, abnormal rod and cone ERGs" "13y" "" "visual symptoms or of first ophthalmic consultation where a diagnosis of Stargardt disease" "" "" "" "" "" "" "" ""
"0000056562" "00420" "00076787" "01695" "Unknown" "" "Stargardt disease; y32: Visual acuity OD Count fingers OS Count fingers, peripapillary atrophy in both eyes, atrophy in the macula, atrophy in the extramacular retina in both eyes, abnormal rod and cone ERGs" "25y" "" "visual symptoms or of first ophthalmic consultation where a diagnosis of Stargardt disease" "" "" "" "" "" "" "" ""
"0000056563" "00420" "00076788" "01695" "Unknown" "" "Stargardt disease; y59: Visual acuity OD 20/400 OS 20/400, peripapillary atrophy in both eyes, flecks in the extramacular retina in both eyes, atrophy in the macula, atrophy in the extramacular retina in both eyes, abnormal rod and cone ERGs" "9y" "" "visual symptoms or of first ophthalmic consultation where a diagnosis of Stargardt disease" "" "" "" "" "" "" "" ""
"0000056564" "00420" "00076789" "01695" "Unknown" "" "Stargardt disease; y15: Visual acuity OD 20/400 OS 20/400, peripapillary atrophy in the right eye, flecks in the extramacular retina in both eyes, atrophy in the macula in both eyes, abnormal rod and cone ERGs" "5y" "" "visual symptoms or of first ophthalmic consultation where a diagnosis of Stargardt disease" "" "" "" "" "" "" "" ""
"0000056565" "00420" "00076790" "01695" "Unknown" "" "Stargardt disease; y30: Visual acuity OD 20/400 OS 20/400, peripapillary atrophy in both eyes, flecks in the extramacular retina in both eyes, atrophy in the macula in both eyes, relative loss of generalized cone function/abnormal rod and cone ERGs" "9y" "" "visual symptoms or of first ophthalmic consultation where a diagnosis of Stargardt disease" "" "" "" "" "" "" "" ""
"0000056566" "00420" "00076791" "01695" "Unknown" "" "Stargardt disease; y16: a visual acuity of 20/40, an ETDRS score of 75, Goldman visual field test: V4e: full; 14e: 1° ctl scotoma, Humphrey visual field test: 8°ctl scotoma with<1 log unit sensitivity loss, Foveal threshold of 30 dB, Foveal fixation; all in the left eye." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056567" "00420" "00076792" "01695" "Unknown" "" "Stargardt disease; y15: a visual acuity of 20/160, an ETDRS score of 40, Goldman visual field test: V4e: full; 14e: 1° ctl scotoma, Humphrey visual field test: Dense scotoma beginning 4° superior to fixation, Foveal threshold of 27 dB, Superior fixation; all in the left eye." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056568" "00420" "00076793" "01695" "Unknown" "" "Stargardt disease; y25: a visual acuity of 20/63, an ETDRS score of 61, Goldman visual field test: V4e, 14e: full, 12e: 5° ctl scotoma, Humphrey visual field test: 6° ctl scotoma, Foveal threshold of 31 dB, Foveal fixation; all in the left eye." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056569" "00420" "00076794" "01695" "Unknown" "" "Stargardt disease; y24: a visual acuity of 20/100, an ETDRS score of 50, Goldman visual field test: V4e: full; 14e: 3–4° ctl scotoma , Humphrey visual field test: 3°–4° scotoma superior to fixation, Foveal threshold of 32 dB, Superior fixation; all in the right eye." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056570" "00420" "00076795" "01695" "Unknown" "" "Stargardt disease; y42: a visual acuity of 20/320, an ETDRS score of 23, Goldman visual field test: V4e: full; 14e: 10° ctl scotoma, Humphrey visual field test: 12° dense ctl scotoma, Foveal threshold of 27 dB, Superonasal fixation; all in the left eye." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056571" "00420" "00076796" "01695" "Unknown" "" "Stargardt disease; y19: a visual acuity of 20/200, an ETDRS score of 35, Goldman visual field test: V4e: full; 14e: 35° ctl scotoma, Humphrey visual field test: 10° ctl scotoma, Foveal threshold of 20 dB, Superonasal fixation; all in the left eye." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056572" "00420" "00076797" "01695" "Unknown" "" "Stargardt disease; y55: a visual acuity of 20/160, an ETDRS score of 40, Goldman visual field test: V4e: 10° ctl scotoma; 14e: 20° ctl scotoma, Humphrey visual field test: Dense 15° ctl scotoma , Foveal threshold of 6 dB, Superonasal fixation; all in the left eye." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056573" "00420" "00076798" "01695" "Unknown" "" "Stargardt disease; y36: a visual acuity of 20/200, an ETDRS score of 34, Goldman visual field test: V4e: 20° ctl scotoma;14e: 25° ctl scotoma, Humphrey visual field test: Dense scotoma beginning 6° superior to fixation, Foveal threshold of 12 dB, Superior fixation; all in the left eye." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056574" "00420" "00076799" "01695" "Unknown" "" "Stargardt disease; y28: a visual acuity of 20/320, an ETDRS score of 25, Goldman visual field test: V4e: full; 14e: 15° scotoma from 5– 25° superior to fixation, Humphrey visual field test: Dense scotoma beginning 5° superior to fixation, Foveal threshold of 23 dB, Superior fixation; all in the left eye." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056575" "00420" "00076800" "01695" "Unknown" "" "Stargardt disease; y55: a visual acuity of 20/320, an ETDRS score of 25, Goldman visual field test: V4e: 30° ctl scotoma; 14e: 35° ctl scotoma, Humphrey visual field test: Dense scotoma extending from fixation to 10° inferonasally, Foveal threshold of 19 dB, Inferonasal fixation; all in the left eye." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056576" "00420" "00076801" "01695" "Unknown" "" "Stargardt disease; y50: a visual acuity of 20/25, an ETDRS score of 80, Goldman visual field test: V4e: full; 14e: 25° ctl scotoma from10–25° with foveal sparing, Humphrey visual field test: Dense scotoma extending from fixation to 10° with foveal sparing, Foveal threshold of 27 dB, Foveal fixation; all in the left eye." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056577" "00198" "00076802" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056578" "00198" "00076803" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056579" "00198" "00076804" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056580" "00198" "00076805" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056581" "00198" "00076806" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056582" "00198" "00076807" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056583" "00198" "00076808" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056584" "00198" "00076809" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056585" "00198" "00076810" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa; y15 visual acuity was 1.1 OD and 1.3 OS." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056586" "00198" "00076811" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056587" "00198" "00076812" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056588" "00198" "00076813" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa; y20, OD: visual acuity 0.88, ‘‘resorbed’’ flecks with widespread atrophy of the RPE. OS: visual acuity 0.88, ‘‘resorbed’’ flecks with widespread atrophy of the RPE." "11y" "" "unknown" "" "" "" "" "" "" "" ""
"0000056589" "00198" "00076814" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056590" "00198" "00076815" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056591" "00198" "00076816" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056592" "00198" "00076817" "01695" "Isolated (sporadic)" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056593" "00198" "00076818" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056594" "00198" "00076819" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056595" "00198" "00076820" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056596" "00198" "00076821" "01695" "Familial, autosomal recessive" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056597" "00198" "00076822" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056598" "00198" "00076823" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056599" "00198" "00076824" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056600" "00198" "00076825" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056601" "00198" "00076826" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056602" "00198" "00076827" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056603" "00198" "00076828" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056604" "00198" "00076829" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056605" "00198" "00076830" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056606" "00198" "00076831" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056607" "00198" "00076832" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056608" "00198" "00076833" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056609" "00198" "00076834" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056610" "00198" "00076835" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056611" "00198" "00076836" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056612" "00198" "00076837" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056613" "00198" "00076838" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056614" "00198" "00076839" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056615" "00198" "00076840" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056616" "00198" "00076841" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056617" "00198" "00076842" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056618" "00198" "00076843" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056619" "00198" "00076844" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056620" "00198" "00076845" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056621" "00198" "00076846" "01695" "Familial, autosomal recessive" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056622" "00198" "00076847" "01695" "Familial, autosomal recessive" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056623" "00198" "00076848" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056624" "00198" "00076849" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056625" "00198" "00076850" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056626" "00198" "00076851" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056627" "00198" "00076852" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056628" "00198" "00076853" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056629" "00198" "00076854" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056630" "00198" "00076855" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056631" "00198" "00076856" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056632" "00198" "00076857" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056633" "00198" "00076858" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056634" "00198" "00076859" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056635" "00198" "00076860" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056636" "00198" "00076861" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056637" "00198" "00076862" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056638" "00198" "00076863" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056639" "00198" "00076864" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056640" "00198" "00076865" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056641" "00198" "00076866" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056642" "00198" "00076867" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056643" "00198" "00076868" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056644" "00198" "00076869" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056645" "00198" "00076870" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056646" "00198" "00076871" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056647" "00198" "00076872" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056648" "00198" "00076873" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056649" "00198" "00076874" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056650" "00198" "00076875" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056651" "00198" "00076876" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056652" "00198" "00076877" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056653" "00198" "00076878" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056654" "00198" "00076879" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056655" "00198" "00076880" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056656" "00198" "00076881" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056657" "00198" "00076882" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056658" "00198" "00076883" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056659" "00198" "00076884" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056660" "00198" "00076885" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056661" "00198" "00076886" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056662" "00198" "00076887" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056663" "00198" "00076888" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056664" "00198" "00076889" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056665" "00198" "00076890" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056666" "00198" "00076891" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056667" "00198" "00076892" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056668" "00198" "00076893" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056669" "00198" "00076894" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056670" "00198" "00076895" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056671" "00198" "00076896" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056672" "00198" "00076897" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056673" "00198" "00076898" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056674" "00198" "00076899" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056675" "00198" "00076900" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056676" "00198" "00076901" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056677" "00198" "00076902" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056678" "00198" "00076903" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056679" "00198" "00076904" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056680" "00198" "00076905" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056681" "00198" "00076906" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056682" "00198" "00076907" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056683" "00198" "00076908" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056684" "00198" "00076909" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056685" "00198" "00076910" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056686" "00198" "00076911" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056687" "00198" "00076912" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056688" "00198" "00076913" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056689" "00198" "00076914" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056690" "00198" "00076915" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056691" "00198" "00076916" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056692" "00198" "00076917" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056693" "00198" "00076918" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056694" "00198" "00076919" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056695" "00198" "00076920" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056696" "00198" "00076921" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056697" "00198" "00076922" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056698" "00198" "00076923" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056699" "00198" "00076924" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056700" "00198" "00076925" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056701" "00198" "00076926" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056702" "00198" "00076927" "01695" "Unknown" "" "Stargardt disease or cone-rod dystrophy or retinits pigmentosa" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056703" "00198" "00076928" "01695" "Unknown" "" "Stargardt related phenotype" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056704" "00198" "00076929" "01695" "Unknown" "" "Stargardt-flavimaculatus" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056705" "00381" "00076930" "01695" "Unknown" "" "generalized retinal dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056706" "00381" "00076931" "01695" "Unknown" "" "generalized retinal dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056707" "00198" "00076932" "01695" "Unknown" "" "Stargardt-flavimaculatus" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056708" "00198" "00076933" "01695" "Unknown" "" "Stargardt-flavimaculatus" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056709" "00198" "00076934" "01695" "Unknown" "" "Stargardt-flavimaculatus" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056710" "00198" "00076935" "01695" "Unknown" "" "Stargardt-flavimaculatus" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056711" "00198" "00076936" "01695" "Unknown" "" "Stargardt related phenotype" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056712" "00198" "00076937" "01695" "Unknown" "" "Stargardt related phenotype" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056713" "00198" "00076938" "01695" "Unknown" "" "Stargardt-flavimaculatus" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056714" "00198" "00076939" "01695" "Unknown" "" "Stargardt-flavimaculatus" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056715" "00198" "00076940" "01695" "Unknown" "" "Stargardt related phenotype" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056716" "00381" "00076941" "01695" "Unknown" "" "generalized retinal dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056717" "00381" "00076942" "01695" "Unknown" "" "generalized retinal dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056718" "00198" "00076943" "01695" "Unknown" "" "Stargardt-flavimaculatus" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056719" "00381" "00076944" "01695" "Unknown" "" "generalized retinal dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056720" "00198" "00076945" "01695" "Unknown" "" "Stargardt-flavimaculatus" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056721" "00381" "00076946" "01695" "Unknown" "" "generalized retinal dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056722" "00058" "00076947" "01695" "Unknown" "" "cone-rod dystrophy (HP:0000510)" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056723" "00381" "00076948" "01695" "Unknown" "" "generalized retinal dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056724" "00198" "00076949" "01695" "Unknown" "" "Stargardt-flavimaculatus" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056725" "00381" "00076950" "01695" "Unknown" "" "generalized retinal dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056726" "00198" "00076951" "01695" "Unknown" "" "Atypical maculopathy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056727" "00198" "00076952" "01695" "Unknown" "" "Stargardt-flavimaculatus" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056728" "00198" "00076953" "01695" "Unknown" "" "Stargardt-flavimaculatus" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056729" "00381" "00076954" "01695" "Unknown" "" "generalized retinal dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056730" "00198" "00076955" "01695" "Unknown" "" "Stargardt-flavimaculatus" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056731" "00198" "00076956" "01695" "Unknown" "" "Atypical maculopathy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056732" "00381" "00076957" "01695" "Unknown" "" "generalized retinal dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056733" "00198" "00076958" "01695" "Unknown" "" "Stargardt related phenotype" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056734" "00381" "00076959" "01695" "Unknown" "" "generalized retinal dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056735" "00198" "00076960" "01695" "Unknown" "" "Atypical maculopathy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056736" "00198" "00076961" "01695" "Unknown" "" "Stargardt-flavimaculatus" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056737" "00198" "00076962" "01695" "Unknown" "" "Stargardt related phenotype" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056738" "00198" "00076963" "01695" "Unknown" "" "Stargardt-flavimaculatus" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056739" "00381" "00076964" "01695" "Unknown" "" "generalized retinal dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056740" "00198" "00076965" "01695" "Unknown" "" "Stargardt-flavimaculatus" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056741" "00381" "00076966" "01695" "Unknown" "" "generalized retinal dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056742" "00420" "00076967" "01695" "Familial, autosomal recessive" "" "Stargardt disease; y63: Visual acuity OD 20/125, OS 20/150, y64: Visual acuity OD 20/150, OS 20/150, y65: Visual acuity OD 20/150, OS 20/200" "29y" "" "unknown" "" "" "" "" "" "" "" ""
"0000056743" "00420" "00076968" "01695" "Familial, autosomal recessive" "" "Stargardt disease; y68: Visual acuity OD 20/25, OS 20/40, y69: Visual acuity OD 20/30, OS 20/30" "57y" "" "unknown" "" "" "" "" "" "" "" ""
"0000056744" "00420" "00076969" "01695" "Familial, autosomal recessive" "" "Stargardt disease; y41: Visual acuity OD 20/150, OS 20/150" "21y" "" "unknown" "" "" "" "" "" "" "" ""
"0000056745" "00420" "00076970" "01695" "Familial, autosomal recessive" "" "Stargardt disease; y39: Visual acuity OD 20/150, OS 20/150, y40: Visual acuity OD 20/150, OS 20/150, abnormalities localized to the central macula" "13y" "" "unknown" "" "" "" "" "" "" "" ""
"0000056746" "00198" "00076971" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056747" "00198" "00076972" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056748" "00198" "00076973" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056749" "00198" "00076974" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056750" "00198" "00076975" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056751" "00198" "00076976" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056752" "00198" "00076977" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056753" "00198" "00076978" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056754" "00198" "00076979" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056755" "00198" "00076980" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056756" "00198" "00076981" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056757" "00198" "00076982" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056758" "00198" "00076983" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056759" "00198" "00076984" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056760" "00198" "00076985" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056761" "00198" "00076986" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056762" "00198" "00076987" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056763" "00198" "00076988" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056764" "00198" "00076989" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056765" "00198" "00076990" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056766" "00198" "00076991" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056767" "00198" "00076992" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056768" "00198" "00076993" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056769" "00198" "00076994" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056770" "00198" "00076995" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056771" "00198" "00076996" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056772" "00198" "00076997" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056773" "00198" "00076998" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056774" "00198" "00076999" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056775" "00198" "00077000" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056776" "00198" "00077001" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056777" "00198" "00077002" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056778" "00198" "00077003" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056779" "00198" "00077004" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056780" "00198" "00077005" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056781" "00198" "00077006" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056782" "00198" "00077007" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056783" "00198" "00077008" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056784" "00198" "00077009" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056785" "00198" "00077010" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056786" "00198" "00077011" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056787" "00198" "00077012" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056788" "00198" "00077013" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056789" "00198" "00077014" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056790" "00198" "00077015" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056791" "00198" "00077016" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056792" "00198" "00077017" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056793" "00198" "00077018" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056794" "00198" "00077019" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056795" "00198" "00077020" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056796" "00198" "00077021" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056797" "00198" "00077022" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056798" "00198" "00077023" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056799" "00198" "00077024" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056800" "00198" "00077025" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056801" "00198" "00077026" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056802" "00198" "00077027" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056803" "00198" "00077028" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056804" "00198" "00077029" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056805" "00198" "00077030" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056806" "00198" "00077031" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056807" "00198" "00077032" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056808" "00198" "00077033" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056809" "00198" "00077034" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056810" "00198" "00077035" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056811" "00198" "00077036" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056812" "00198" "00077037" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056813" "00198" "00077038" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056814" "00198" "00077039" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056815" "00198" "00077040" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056816" "00198" "00077041" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056817" "00198" "00077042" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056818" "00198" "00077043" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056819" "00198" "00077044" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056820" "00198" "00077045" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056821" "00198" "00077046" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056822" "00198" "00077047" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056823" "00198" "00077048" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056824" "00198" "00077049" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056825" "00198" "00077050" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056826" "00198" "00077051" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056827" "00198" "00077052" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056828" "00198" "00077053" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056829" "00198" "00077054" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056830" "00198" "00077055" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056831" "00198" "00077056" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056832" "00198" "00077057" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056833" "00198" "00077058" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056834" "00198" "00077059" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056835" "00198" "00077060" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056836" "00198" "00077061" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056837" "00198" "00077062" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056838" "00198" "00077063" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056839" "00198" "00077064" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056840" "00198" "00077065" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056841" "00198" "00077066" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056842" "00198" "00077067" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056843" "00198" "00077068" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056844" "00198" "00077069" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056845" "00198" "00077070" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056846" "00198" "00077071" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056847" "00198" "00077072" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056848" "00198" "00077073" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056849" "00198" "00077074" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056850" "00198" "00077075" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056851" "00198" "00077076" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056852" "00198" "00077077" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056853" "00198" "00077078" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056854" "00198" "00077079" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056855" "00198" "00077080" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056856" "00198" "00077081" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056857" "00198" "00077082" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056858" "00198" "00077083" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056859" "00198" "00077084" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056860" "00198" "00077085" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056861" "00198" "00077086" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056862" "00198" "00077087" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056863" "00198" "00077088" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056864" "00198" "00077089" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056865" "00198" "00077090" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056866" "00198" "00077091" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056867" "00198" "00077092" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056868" "00198" "00077093" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056869" "00198" "00077094" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056870" "00198" "00077095" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056871" "00198" "00077096" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056872" "00198" "00077097" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056873" "00198" "00077098" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056874" "00198" "00077099" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056875" "00198" "00077100" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056876" "00198" "00077101" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056877" "00198" "00077102" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056878" "00198" "00077103" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056879" "00198" "00077104" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056880" "00198" "00077105" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056881" "00198" "00077106" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056882" "00198" "00077107" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056883" "00198" "00077108" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056884" "00198" "00077109" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056885" "00198" "00077110" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056886" "00198" "00077111" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056887" "00198" "00077112" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056888" "00198" "00077113" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056889" "00198" "00077114" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056890" "00198" "00077115" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056891" "00198" "00077116" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056892" "00198" "00077117" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056893" "00198" "00077118" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056894" "00198" "00077119" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056895" "00198" "00077120" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056896" "00198" "00077121" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056897" "00198" "00077122" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056898" "00198" "00077123" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056899" "00198" "00077124" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056900" "00198" "00077125" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056901" "00198" "00077126" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056902" "00198" "00077127" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056903" "00198" "00077128" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056904" "00198" "00077129" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056905" "00198" "00077130" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056906" "00198" "00077131" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056907" "00198" "00077132" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056908" "00198" "00077133" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056909" "00198" "00077134" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056910" "00198" "00077135" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056911" "00198" "00077136" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056912" "00198" "00077137" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056913" "00198" "00077138" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056914" "00198" "00077139" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056915" "00198" "00077140" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056916" "00198" "00077141" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056917" "00198" "00077142" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056918" "00198" "00077143" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056919" "00198" "00077144" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056920" "00198" "00077145" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056921" "00198" "00077146" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056922" "00198" "00077147" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056923" "00198" "00077148" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056924" "00198" "00077149" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056925" "00198" "00077150" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056926" "00198" "00077151" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056927" "00198" "00077152" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056928" "00198" "00077153" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056929" "00198" "00077154" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056930" "00198" "00077155" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056931" "00198" "00077156" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056932" "00198" "00077157" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056933" "00198" "00077158" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056934" "00198" "00077159" "01695" "Unknown" "" "cohort of 73% Stargardt disease, 16% Retinitis pigmentosa, 11% macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056935" "00420" "00077160" "01695" "Unknown" "" "Stargardt disease; y42: Severe (according to the criteria of Scholl HPN, Kremers J, Vonthein R, White K, Weber BH. L- and M-cone driven electroretinograms in Stargardt’s macular dystrophy-fundus flavimaculatus. Invest Ophthalmol Vis Sci 2001;42:1380–1389.), visual acuity OD: 1/10, OS: 1/10, color vision: protanomalous+tritanomalous" "7y" "" "Decrease of visual acuity" "" "" "" "" "" "" "" ""
"0000056936" "00420" "00077161" "01695" "Unknown" "" "Stargardt disease; y38: Severe (according to the criteria of Scholl HPN, Kremers J, Vonthein R, White K, Weber BH. L- and M-cone driven electroretinograms in Stargardt’s macular dystrophy-fundus flavimaculatus. Invest Ophthalmol Vis Sci 2001;42:1380–1389.), visual acuity OD: 1/10, OS: 0.5/10, color vision: deuteronomalous+tritanomalous" "14y" "" "Decrease of visual acuity" "" "" "" "" "" "" "" ""
"0000056937" "00420" "00077162" "01695" "Unknown" "" "Stargardt disease; y33: Severe (according to the criteria of Scholl HPN, Kremers J, Vonthein R, White K, Weber BH. L- and M-cone driven electroretinograms in Stargardt’s macular dystrophy-fundus flavimaculatus. Invest Ophthalmol Vis Sci 2001;42:1380–1389.), visual acuity OD: 1/10, OS: 1/10, color vision: protanomalous+tritanomalous" "11y" "" "Decrease of visual acuity" "" "" "" "" "" "" "" ""
"0000056938" "00420" "00077163" "01695" "Unknown" "" "Stargardt disease; y16: Moderate (according to the criteria of Scholl HPN, Kremers J, Vonthein R, White K, Weber BH. L- and M-cone driven electroretinograms in Stargardt’s macular dystrophy-fundus flavimaculatus. Invest Ophthalmol Vis Sci 2001;42:1380–1389.), visual acuity OD: 1.6/10, OS: 1.6/10, color vision: protanomalous" "6y" "" "Decrease of visual acuity" "" "" "" "" "" "" "" ""
"0000056939" "00420" "00077164" "01695" "Unknown" "" "Stargardt disease; y34: Severe (according to the criteria of Scholl HPN, Kremers J, Vonthein R, White K, Weber BH. L- and M-cone driven electroretinograms in Stargardt’s macular dystrophy-fundus flavimaculatus. Invest Ophthalmol Vis Sci 2001;42:1380–1389.), visual acuity OD: FC, OS: FC, color vision:" "6y" "" "Decrease of visual acuity" "" "" "" "" "" "" "" ""
"0000056940" "00420" "00077165" "01695" "Unknown" "" "Stargardt disease; y17: Severe (according to the criteria of Scholl HPN, Kremers J, Vonthein R, White K, Weber BH. L- and M-cone driven electroretinograms in Stargardt’s macular dystrophy-fundus flavimaculatus. Invest Ophthalmol Vis Sci 2001;42:1380–1389.), visual acuity OD: 1/10, OS: 1/10, color vision: protanomalous+tritanomalous" "12y" "" "Decrease of visual acuity" "" "" "" "" "" "" "" ""
"0000056941" "00420" "00077166" "01695" "Unknown" "" "Stargardt disease; y20: Moderate (according to the criteria of Scholl HPN, Kremers J, Vonthein R, White K, Weber BH. L- and M-cone driven electroretinograms in Stargardt’s macular dystrophy-fundus flavimaculatus. Invest Ophthalmol Vis Sci 2001;42:1380–1389.), visual acuity OD: 1/10, OS: 1/10, color vision: protanomalous" "14y" "" "Decrease of visual acuity" "" "" "" "" "" "" "" ""
"0000056942" "00420" "00077167" "01695" "Unknown" "" "Stargardt disease; y24: Moderate (according to the criteria of Scholl HPN, Kremers J, Vonthein R, White K, Weber BH. L- and M-cone driven electroretinograms in Stargardt’s macular dystrophy-fundus flavimaculatus. Invest Ophthalmol Vis Sci 2001;42:1380–1389.), visual acuity OD: 0.5/10, OS: 0.5/10, color vision: protanomalous+tritanomalous" "11y" "" "Decrease of visual acuity" "" "" "" "" "" "" "" ""
"0000056943" "00420" "00077168" "01695" "Unknown" "" "Stargardt disease; y11: Moderate (according to the criteria of Scholl HPN, Kremers J, Vonthein R, White K, Weber BH. L- and M-cone driven electroretinograms in Stargardt’s macular dystrophy-fundus flavimaculatus. Invest Ophthalmol Vis Sci 2001;42:1380–1389.), visual acuity OD: 0.5/10, OS: 1/10, color vision: protanomalous+tritanomalous" "9y" "" "Decrease of visual acuity" "" "" "" "" "" "" "" ""
"0000056944" "00420" "00077169" "01695" "Unknown" "" "Stargardt disease; y9: Moderate (according to the criteria of Scholl HPN, Kremers J, Vonthein R, White K, Weber BH. L- and M-cone driven electroretinograms in Stargardt’s macular dystrophy-fundus flavimaculatus. Invest Ophthalmol Vis Sci 2001;42:1380–1389.), visual acuity OD: 0.5/10, OS: 1/10, color vision: Normal" "7y" "" "Decrease of visual acuity" "" "" "" "" "" "" "" ""
"0000056945" "00420" "00077170" "01695" "Unknown" "" "Stargardt disease; y27: Moderate (according to the criteria of Scholl HPN, Kremers J, Vonthein R, White K, Weber BH. L- and M-cone driven electroretinograms in Stargardt’s macular dystrophy-fundus flavimaculatus. Invest Ophthalmol Vis Sci 2001;42:1380–1389.), visual acuity OD: 1.2/10, OS: 1.2/10, color vision: protanomalous+tritanomalous" "24y" "" "Decrease of visual acuity" "" "" "" "" "" "" "" ""
"0000056946" "00420" "00077171" "01695" "Unknown" "" "Stargardt disease; y29: Severe (according to the criteria of Scholl HPN, Kremers J, Vonthein R, White K, Weber BH. L- and M-cone driven electroretinograms in Stargardt’s macular dystrophy-fundus flavimaculatus. Invest Ophthalmol Vis Sci 2001;42:1380–1389.), visual acuity OD: FC, OS: FC, color vision:" "9y" "" "Decrease of visual acuity" "" "" "" "" "" "" "" ""
"0000056947" "00420" "00077172" "01695" "Unknown" "" "Stargardt disease; y61: Moderate (according to the criteria of Scholl HPN, Kremers J, Vonthein R, White K, Weber BH. L- and M-cone driven electroretinograms in Stargardt’s macular dystrophy-fundus flavimaculatus. Invest Ophthalmol Vis Sci 2001;42:1380–1389.), visual acuity OD: 0.5/10, OS: 0.5/10, color vision: tritanomalous" "30y" "" "Decrease of visual acuity" "" "" "" "" "" "" "" ""
"0000056948" "00420" "00077173" "01695" "Unknown" "" "Stargardt disease; y40: Moderate (according to the criteria of Scholl HPN, Kremers J, Vonthein R, White K, Weber BH. L- and M-cone driven electroretinograms in Stargardt’s macular dystrophy-fundus flavimaculatus. Invest Ophthalmol Vis Sci 2001;42:1380–1389.), visual acuity OD: 6/10, OS: 8/10, color vision: protanomalous" "30y" "" "Decrease of visual acuity" "" "" "" "" "" "" "" ""
"0000056949" "00420" "00077174" "01695" "Familial, autosomal recessive" "" "Stargardt disease, late onset; y64: Visual actuity: OD count fingers, OS count fingers, Flavimaculatus flecks with central chorioretinal atrophy, dark choroid." "49y" "" "The onset of STGD1 was defined as the age at initial symptoms. In asymptomatic cases, we used the age at first diagnosis, defined as the age at which macular abnormalities were diagnosed for the first time by an ophthalmologist" "" "" "" "" "" "" "" ""
"0000056950" "00420" "00077175" "01695" "Isolated (sporadic)" "" "Stargardt disease, late onset; y60: Visual actuity: OD 20/20, OS 20/20, Flavimaculatus flecks with parafoveal chorioretinal atrophy and foveal sparing , dark choroid; y63: Paracentral scotoma, visual acuity for both eyes: 20/25. Confluent RPE spots in perifoveal region, yellow-white flecks reaching up to the midperiphery, Dark choroid, both eyes: pericentral absolute scotoma. Foveal sparing in the right eye." "53y" "" "The onset of STGD1 was defined as the age at initial symptoms. In asymptomatic cases, we used the age at first diagnosis, defined as the age at which macular abnormalities were diagnosed for the first time by an ophthalmologist" "" "" "" "" "" "" "" ""
"0000056951" "00420" "00077176" "01695" "Isolated (sporadic)" "" "Stargardt disease, late onset; y60: Visual actuity: OD 20/40, OS 20/50, Flavimaculatus flecks with little parafoveal chorioretinal atrophy and mottled decreased FAF in macula, dark choroid." "45y" "" "The onset of STGD1 was defined as the age at initial symptoms. In asymptomatic cases, we used the age at first diagnosis, defined as the age at which macular abnormalities were diagnosed for the first time by an ophthalmologist" "" "" "" "" "" "" "" ""
"0000056952" "00420" "00077177" "01695" "Isolated (sporadic)" "" "Stargardt disease, late onset; y74: Visual actuity: OD count fingers, OS count fingers, 1987: Chorioretinal atrophy in macula with surrounding irregular yellow-white flecks and foveal sparing." "51y" "" "The onset of STGD1 was defined as the age at initial symptoms. In asymptomatic cases, we used the age at first diagnosis, defined as the age at which macular abnormalities were diagnosed for the first time by an ophthalmologist" "" "" "" "" "" "" "" ""
"0000056953" "00420" "00077178" "01695" "Isolated (sporadic)" "" "Stargardt disease, late onset; y65: Visual actuity: OD 20/25, OS 20/20, 1990: Flavimaculatus flecks with foveal sparing, 2010: Extensive parafoveal chorioretinal atrophy with foveal sparing, dark choroid; y66: Visual acuity OD:20/30 OS:20/20 OD: macular RPE atrophy with small foveal residue, small macular intraretinal pigmentations, hypopigmented RPE in posterior pole OD: pericentral absolute scotoma . OS: RPE atrophy lesions in posterior pole, hypopigmented RPE in posterior pole OD: three paracentral spots of absolute visual field loss. Foveal sparing in right eye." "<45y" "" "The onset of STGD1 was defined as the age at initial symptoms. In asymptomatic cases, we used the age at first diagnosis, defined as the age at which macular abnormalities were diagnosed for the first time by an ophthalmologist" "" "" "" "" "" "" "" ""
"0000056954" "00420" "00077179" "01695" "Isolated (sporadic)" "" "Stargardt disease, late onset; y79: Visual actuity: OD 20/50*, OS 20/20, Flavimaculatus flecks with foveal sparing." "65y" "" "The onset of STGD1 was defined as the age at initial symptoms. In asymptomatic cases, we used the age at first diagnosis, defined as the age at which macular abnormalities were diagnosed for the first time by an ophthalmologist" "" "" "" "" "" "" "" ""
"0000056955" "00420" "00077180" "01695" "Isolated (sporadic)" "" "Stargardt disease, late onset; y61: Visual actuity: OD count fingers, OS count fingers, Foveal changes with parafoveal yellow-white dots and mottled decreased FAF in macula, dark choroid." "58y" "" "The onset of STGD1 was defined as the age at initial symptoms. In asymptomatic cases, we used the age at first diagnosis, defined as the age at which macular abnormalities were diagnosed for the first time by an ophthalmologist" "" "" "" "" "" "" "" ""
"0000056956" "00420" "00077181" "01695" "Familial, autosomal recessive" "" "Stargardt disease, late onset; y72: Visual actuity: OD count fingers, OS 20/200, Chorioretinal atrophy extending to midperipheral retina; y59: Visual acuity OD:20/25 OS:20/25 RPE atrophy surrounding the fovea completely in right eye and incompletely, ~2708; in OD, yellow-white irregular flecks in posterior pole as well as diffusely spread hypopigmented spots. Foveal sparing in both eyes." "57y" "" "The onset of STGD1 was defined as the age at initial symptoms. In asymptomatic cases, we used the age at first diagnosis, defined as the age at which macular abnormalities were diagnosed for the first time by an ophthalmologist" "" "" "" "" "" "" "" ""
"0000056957" "00420" "00077182" "01695" "Familial, autosomal recessive" "" "Stargardt disease" "50y" "" "The onset of STGD1 was defined as the age at initial symptoms. In asymptomatic cases, we used the age at first diagnosis, defined as the age at which macular abnormalities were diagnosed for the first time by an ophthalmologist" "" "" "" "" "" "" "" ""
"0000056958" "00420" "00077183" "01695" "Familial, autosomal recessive" "" "Stargardt disease, late onset; y64: Visual actuity: OD 20/15, OS 20/15, Flavimaculatus flecks with foveal sparing, dark choroid." "61y" "" "The onset of STGD1 was defined as the age at initial symptoms. In asymptomatic cases, we used the age at first diagnosis, defined as the age at which macular abnormalities were diagnosed for the first time by an ophthalmologist" "" "" "" "" "" "" "" ""
"0000056959" "00420" "00077184" "01695" "Isolated (sporadic)" "" "Stargardt disease, late onset; y60: Visual actuity: OD 20/40, OS 20/30, 1999: Flavimaculatus flecks with foveal sparing 2010: Flavimaculatus flecks with central chorioretinal atrophy and small area of normal FAF in fovea, dark choroid; y61: Visual acuity OD: 20/40 OS: 20/30 RPE atrophy with small foveal peninsula, yellow-white fundus flecks reaching up to the midperiphery. Foveal sparing in both eyes." "<58y" "" "The onset of STGD1 was defined as the age at initial symptoms. In asymptomatic cases, we used the age at first diagnosis, defined as the age at which macular abnormalities were diagnosed for the first time by an ophthalmologist" "" "" "" "" "" "" "" ""
"0000056960" "00420" "00077185" "01695" "Isolated (sporadic)" "" "Stargardt disease, late onset; y70: Visual actuity: OD count fingers, OS 20/20, Flavimaculatus flecks with some parafoveal chorioretinal atrophy ODS. Occult neovascularization OD, foveal sparing OS, dark choroid." "69y" "" "The onset of STGD1 was defined as the age at initial symptoms. In asymptomatic cases, we used the age at first diagnosis, defined as the age at which macular abnormalities were diagnosed for the first time by an ophthalmologist" "" "" "" "" "" "" "" ""
"0000056961" "00420" "00077186" "01695" "Isolated (sporadic)" "" "Stargardt disease, late onset; y61: Visual actuity: OD 20/20, OS count fingers, Flavimaculatus flecks with foveal sparing OD and parafoveal chorioretinal atrophy ODS, dark choroid; y60: Visual acuity OD: 20/30 20/30 RPE atrophy spots, confluent in OD, around the fovea; yellow-white irregular flecks reaching up to the midperiphery. Foveal sparing in both eyes." "58y" "" "The onset of STGD1 was defined as the age at initial symptoms. In asymptomatic cases, we used the age at first diagnosis, defined as the age at which macular abnormalities were diagnosed for the first time by an ophthalmologist" "" "" "" "" "" "" "" ""
"0000056962" "00420" "00077187" "01695" "Familial, autosomal recessive" "" "Stargardt disease, late onset; y72: Visual actuity: OD 20/20, OS 20/20, Flavimaculatus flecks with foveal sparing, dark choroid." "72y" "" "The onset of STGD1 was defined as the age at initial symptoms. In asymptomatic cases, we used the age at first diagnosis, defined as the age at which macular abnormalities were diagnosed for the first time by an ophthalmologist" "" "" "" "" "" "" "" ""
"0000056963" "00420" "00077188" "01695" "Isolated (sporadic)" "" "Stargardt disease, late onset; y48: Visual actuity: OD 20/40, OS 20/25, Parafoveal dots and flecks and small parafoveal atrophic lesion OS, dark choroid." "45y" "" "The onset of STGD1 was defined as the age at initial symptoms. In asymptomatic cases, we used the age at first diagnosis, defined as the age at which macular abnormalities were diagnosed for the first time by an ophthalmologist" "" "" "" "" "" "" "" ""
"0000056964" "00420" "00077189" "01695" "Isolated (sporadic)" "" "Stargardt disease, late onset; y60: Visual actuity: OD 20/200, OS 20/50, Foveal changes with surrounded yellow-white flecks and parafoveal chorioretinal atrophy, dark choroid." "47y" "" "The onset of STGD1 was defined as the age at initial symptoms. In asymptomatic cases, we used the age at first diagnosis, defined as the age at which macular abnormalities were diagnosed for the first time by an ophthalmologist" "" "" "" "" "" "" "" ""
"0000056965" "00420" "00077190" "01695" "Familial, autosomal recessive" "" "Stargardt disease" "17y" "" "The onset of STGD1 was defined as the age at initial symptoms. In asymptomatic cases, we used the age at first diagnosis, defined as the age at which macular abnormalities were diagnosed for the first time by an ophthalmologist" "" "" "" "" "" "" "" ""
"0000056966" "00420" "00077191" "01695" "Familial, autosomal recessive" "" "Stargardt disease, late onset; y61: Visual actuity: OD 20/200, OS 20/160, Flavimaculatus flecks with mottled decreased FAF in macula and parafoveal chorioretinal atrophy, dark choroid." "56y" "" "The onset of STGD1 was defined as the age at initial symptoms. In asymptomatic cases, we used the age at first diagnosis, defined as the age at which macular abnormalities were diagnosed for the first time by an ophthalmologist" "" "" "" "" "" "" "" ""
"0000056967" "00420" "00077192" "01695" "Isolated (sporadic)" "" "Stargardt disease, late onset; y56: Visual actuity: OD 20/25, OS 20/25, Foveal changes with parafoveal chorioretinal atrophy OD and mottled FAF in macula, dark choroid; y57: Visual acuity OD: 20/40 OS: 20/25 OD: macular RPE atrophy surrounding the fovea, yellow-white fundus flecks in posterior pole. Dark choroid. OS: hypopigmentation and yellow-white flecks in posterior pole. Foveal sparing in the right eye." "54y" "" "The onset of STGD1 was defined as the age at initial symptoms. In asymptomatic cases, we used the age at first diagnosis, defined as the age at which macular abnormalities were diagnosed for the first time by an ophthalmologist" "" "" "" "" "" "" "" ""
"0000056968" "00420" "00077193" "01695" "Isolated (sporadic)" "" "Stargardt disease, late onset; y52: Visual actuity: OD 20/40, OS 20/30, Small yellowish spots in the macula with zone of increased background FAF and mottled decreased FAF para- and perifoveal." "48y" "" "The onset of STGD1 was defined as the age at initial symptoms. In asymptomatic cases, we used the age at first diagnosis, defined as the age at which macular abnormalities were diagnosed for the first time by an ophthalmologist" "" "" "" "" "" "" "" ""
"0000056969" "00420" "00077194" "01695" "Isolated (sporadic)" "" "Stargardt disease, late onset; y68: Visual actuity: OD 20/120, OS 20/400, Flavimaculatus flecks with chorioretinal atrophy in macula." "46y" "" "The onset of STGD1 was defined as the age at initial symptoms. In asymptomatic cases, we used the age at first diagnosis, defined as the age at which macular abnormalities were diagnosed for the first time by an ophthalmologist" "" "" "" "" "" "" "" ""
"0000056970" "00420" "00077195" "01695" "Isolated (sporadic)" "" "Stargardt disease, late onset; y56: Visual actuity: OD 20/30, OS 20/25, Foveal changes with parafoveal yellow-white dots and mottled decreased FAF in macula, dark choroid." "50y" "" "The onset of STGD1 was defined as the age at initial symptoms. In asymptomatic cases, we used the age at first diagnosis, defined as the age at which macular abnormalities were diagnosed for the first time by an ophthalmologist" "" "" "" "" "" "" "" ""
"0000056971" "00420" "00077196" "01695" "Isolated (sporadic)" "" "Stargardt disease, late onset; y83: Visual actuity: OD 20/25, OS 20/25, Flavimaculatus flecks with foveal sparing and parafoveal chorioretinal atrophy in OS, dark choroid; y81: Visual acuity OD:20/25 OS:20/25 Yellow-white irregular flecks within the posterior pole, parafoveal RPE atrophy lesions in OD. Foveal sparing in left eye." "" "" "The onset of STGD1 was defined as the age at initial symptoms. In asymptomatic cases, we used the age at first diagnosis, defined as the age at which macular abnormalities were diagnosed for the first time by an ophthalmologist; Metamorphopsia" "" "" "" "" "" "" "" ""
"0000056972" "00420" "00077197" "01695" "Familial, autosomal recessive" "" "Stargardt disease; y50: visual acuity 0.0715, small atrophic-appearing foveal lesion and localized perifoveal yellowish-white flecks." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056973" "00420" "00077198" "01695" "Familial, autosomal recessive" "" "Stargardt disease; y47: visual acuity 0.1, small atrophic-appearing foveal lesion and localized perifoveal yellowish-white flecks, inner-outer segment junction loss in the foveal area." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056974" "00420" "00077199" "01695" "Isolated (sporadic)" "" "Stargardt disease; y33: visual acuity 0.05, numerous yellowish-white fundus lesions throughout the posterior pole, inner-outer segment junction loss in the foveal area." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056975" "00420" "00077200" "01695" "Familial, autosomal recessive" "" "Stargardt disease; y18: visual acuity 0.085, numerous yellowish-white fundus lesions throughout the posterior pole." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056976" "00420" "00077201" "01695" "Isolated (sporadic)" "" "Stargardt disease; y16: visual acuity 0.095, numerous yellowish-white fundus lesions throughout the posterior pole, extensive loss of inner-outer segment junction (more than 1 disc diameter from the fovea)." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056977" "00420" "00077202" "01695" "Isolated (sporadic)" "" "Stargardt disease; y46: visual acuity 0.2, small atrophic-appearing foveal lesion and localized perifoveal yellowish-white flecks, inner-outer segment junction loss in the foveal area." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056978" "00420" "00077203" "01695" "Isolated (sporadic)" "" "Stargardt disease; y35: visual acuity 0.017, extensive atrophic-appearing RPE changes." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056979" "00420" "00077204" "01695" "Isolated (sporadic)" "" "Stargardt disease; y20: visual acuity 0.1, small atrophic-appearing foveal lesion and localized perifoveal yellowish-white flecks, inner-outer segment junction loss in the foveal area." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056980" "00420" "00077205" "01695" "Familial, autosomal recessive" "" "Stargardt disease; y20: visual acuity 0.47, small atrophic-appearing foveal lesion and localized perifoveal yellowish-white flecks, inner-outer segment junction loss in the foveal area." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056981" "00420" "00077206" "01695" "Familial, autosomal recessive" "" "Stargardt disease; y34: visual acuity 0.1, small atrophic-appearing foveal lesion and localized perifoveal yellowish-white flecks, inner-outer segment junction loss in the foveal area." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056982" "00420" "00077207" "01695" "Familial, autosomal recessive" "" "Stargardt disease; y18: visual acuity 1, small atrophic-appearing foveal lesion and localized perifoveal yellowish-white flecks, inner-outer segment junction disorganization in the fovea." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056983" "00420" "00077208" "01695" "Isolated (sporadic)" "" "Stargardt disease; y12: visual acuity 0.12, small atrophic-appearing foveal lesion and localized perifoveal yellowish-white flecks, extensive loss of inner-outer segment junction (more than 1 disc diameter from the fovea)." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056984" "00420" "00077209" "01695" "Isolated (sporadic)" "" "Stargardt disease; y28: visual acuity 0.1, numerous yellowish-white fundus lesions throughout the posterior pole, inner-outer segment junction loss in the foveal area." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056985" "00420" "00077210" "01695" "Isolated (sporadic)" "" "Stargardt disease; y34: visual acuity 0.2, small atrophic-appearing foveal lesion and localized perifoveal yellowish-white flecks, inner-outer segment junction loss in the foveal area." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056986" "00420" "00077211" "01695" "Familial, autosomal recessive" "" "Stargardt disease; y69: visual acuity 0.079, extensive atrophic-appearing RPE changes, extensive loss of inner-outer segment junction (more than 1 disc diameter from the fovea)." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056987" "00420" "00077212" "01695" "Familial, autosomal recessive" "" "Stargardt disease; y46: visual acuity 0.55, extensive atrophic-appearing RPE changes, extensive loss of inner-outer segment junction (more than 1 disc diameter from the fovea)." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056988" "00420" "00077213" "01695" "Isolated (sporadic)" "" "Stargardt disease; y13: visual acuity 0.084, numerous yellowish-white fundus lesions throughout the posterior pole, extensive loss of inner-outer segment junction (more than 1 disc diameter from the fovea)." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056989" "00420" "00077214" "01695" "Familial, autosomal recessive" "" "Stargardt disease; y20: visual acuity 0.0775, extensive atrophic-appearing RPE changes." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056990" "00420" "00077215" "01695" "Familial, autosomal recessive" "" "Stargardt disease; y23: visual acuity 0.042, extensive atrophic-appearing RPE changes." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056991" "00420" "00077216" "01695" "Isolated (sporadic)" "" "Stargardt disease; y17: visual acuity 0.1, numerous yellowish-white fundus lesions throughout the posterior pole, extensive loss of inner-outer segment junction (more than 1 disc diameter from the fovea)." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056992" "00420" "00077217" "01695" "Isolated (sporadic)" "" "Stargardt disease; y20: visual acuity 0.225, small atrophic-appearing foveal lesion and localized perifoveal yellowish-white flecks, inner-outer segment junction loss in the foveal area." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056993" "00420" "00077218" "01695" "Isolated (sporadic)" "" "Stargardt disease; y43: visual acuity 0.575, small atrophic-appearing foveal lesion and localized perifoveal yellowish-white flecks, inner-outer segment junction loss in the foveal area." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056994" "00420" "00077219" "01695" "Isolated (sporadic)" "" "Stargardt disease; y12: visual acuity 0.1, numerous yellowish-white fundus lesions throughout the posterior pole, inner-outer segment junction loss in the foveal area." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056995" "00420" "00077220" "01695" "Isolated (sporadic)" "" "Stargardt disease; y29: visual acuity 0.1, small atrophic-appearing foveal lesion and localized perifoveal yellowish-white flecks, inner-outer segment junction loss in the foveal area." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056996" "00420" "00077221" "01695" "Isolated (sporadic)" "" "Stargardt disease; y38: visual acuity 0.0075, extensive atrophic-appearing RPE changes." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056997" "00420" "00077222" "01695" "Isolated (sporadic)" "" "Stargardt disease; y35: visual acuity 0.46, small atrophic-appearing foveal lesion and localized perifoveal yellowish-white flecks, inner-outer segment junction loss in the foveal area." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056998" "00420" "00077223" "01695" "Isolated (sporadic)" "" "Stargardt disease; y13: visual acuity 0.2, small atrophic-appearing foveal lesion and localized perifoveal yellowish-white flecks, inner-outer segment junction loss in the foveal area." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000056999" "00420" "00077224" "01695" "Isolated (sporadic)" "" "Stargardt disease; y14: visual acuity 1, small atrophic-appearing foveal lesion and localized perifoveal yellowish-white flecks, inner-outer segment junction disorganization in the fovea." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057000" "00420" "00077225" "01695" "Familial, autosomal recessive" "" "Stargardt disease; y45: visual acuity 0.1, numerous yellowish-white fundus lesions throughout the posterior pole, extensive loss of inner-outer segment junction (more than 1 disc diameter from the fovea)." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057001" "00420" "00077226" "01695" "Familial, autosomal recessive" "" "Stargardt disease; y48: visual acuity 0.0335, extensive atrophic-appearing RPE changes." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057002" "00420" "00077227" "01695" "Familial, autosomal recessive" "" "Stargardt disease; y52: visual acuity 0.05, numerous yellowish-white fundus lesions throughout the posterior pole, extensive loss of inner-outer segment junction (more than 1 disc diameter from the fovea)." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057003" "00420" "00077228" "01695" "Isolated (sporadic)" "" "Stargardt disease; y43: visual acuity 0.065, small atrophic-appearing foveal lesion and localized perifoveal yellowish-white flecks, inner-outer segment junction loss in the foveal area." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057004" "00420" "00077229" "01695" "Isolated (sporadic)" "" "Stargardt disease; y45: visual acuity 0.03, small atrophic-appearing foveal lesion and localized perifoveal yellowish-white flecks, inner-outer segment junction disorganization in the fovea." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057005" "00420" "00077230" "01695" "Familial, autosomal recessive" "" "Stargardt disease; y33: visual acuity 0.0665, extensive atrophic-appearing RPE changes, extensive loss of inner-outer segment junction (more than 1 disc diameter from the fovea)." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057006" "00420" "00077231" "01695" "Familial, autosomal recessive" "" "Stargardt disease; y38: visual acuity 0.008, extensive atrophic-appearing RPE changes, extensive loss of inner-outer segment junction (more than 1 disc diameter from the fovea)." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057007" "00420" "00077232" "01695" "Isolated (sporadic)" "" "Stargardt disease; y42: visual acuity 0.4, numerous yellowish-white fundus lesions throughout the posterior pole, extensive loss of inner-outer segment junction (more than 1 disc diameter from the fovea)." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057008" "00420" "00077233" "01695" "Isolated (sporadic)" "" "Stargardt disease; y14: visual acuity 0.235, numerous yellowish-white fundus lesions throughout the posterior pole, extensive loss of inner-outer segment junction (more than 1 disc diameter from the fovea)." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057009" "00420" "00077234" "01695" "Isolated (sporadic)" "" "Stargardt disease; y19: visual acuity 0.09, small atrophic-appearing foveal lesion and localized perifoveal yellowish-white flecks, extensive loss of inner-outer segment junction (more than 1 disc diameter from the fovea)." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057010" "00420" "00077235" "01695" "Isolated (sporadic)" "" "Stargardt disease; y42: visual acuity 0.515, extensive atrophic-appearing RPE changes, extensive loss of inner-outer segment junction (more than 1 disc diameter from the fovea)." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057011" "00420" "00077236" "01695" "Familial, autosomal recessive" "" "Stargardt disease; y33: visual acuity 0.096, numerous yellowish-white fundus lesions throughout the posterior pole, extensive loss of inner-outer segment junction (more than 1 disc diameter from the fovea)." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057012" "00420" "00077237" "01695" "Isolated (sporadic)" "" "Stargardt disease; y17: visual acuity 0.1, numerous yellowish-white fundus lesions throughout the posterior pole, inner-outer segment junction loss in the foveal area." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057013" "00420" "00077238" "01695" "Isolated (sporadic)" "" "Stargardt disease; y45: visual acuity 0.2, small atrophic-appearing foveal lesion and localized perifoveal yellowish-white flecks, inner-outer segment junction loss in the foveal area." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057014" "00420" "00077239" "01695" "Isolated (sporadic)" "" "Stargardt disease; y19: visual acuity 0.34, small atrophic-appearing foveal lesion and localized perifoveal yellowish-white flecks, inner-outer segment junction loss in the foveal area." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057015" "00420" "00077240" "01695" "Isolated (sporadic)" "" "Stargardt disease; y66: visual acuity 0.335, extensive atrophic-appearing RPE changes." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057016" "00420" "00077241" "01695" "Isolated (sporadic)" "" "Stargardt disease; y41: visual acuity 0.1, extensive atrophic-appearing RPE changes, extensive loss of inner-outer segment junction (more than 1 disc diameter from the fovea)." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057017" "00420" "00077242" "01695" "Familial, autosomal recessive" "" "Stargardt disease; y17: visual acuity 0.395, small atrophic-appearing foveal lesion and localized perifoveal yellowish-white flecks, inner-outer segment junction disorganization in the fovea." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057018" "00420" "00077243" "01695" "Familial, autosomal recessive" "" "Stargardt disease; y26: visual acuity 0.135, small atrophic-appearing foveal lesion and localized perifoveal yellowish-white flecks, inner-outer segment junction loss in the foveal area." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057019" "00420" "00077244" "01695" "Isolated (sporadic)" "" "Stargardt disease; y10: visual acuity 0.16, numerous yellowish-white fundus lesions throughout the posterior pole, inner-outer segment junction loss in the foveal area." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057020" "00420" "00077245" "01695" "Familial, autosomal recessive" "" "Stargardt disease; y25: visual acuity 0.9, small atrophic-appearing foveal lesion and localized perifoveal yellowish-white flecks, inner-outer segment junction loss in the foveal area." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057021" "00420" "00077246" "01695" "Isolated (sporadic)" "" "Stargardt disease; y32: visual acuity 0.0715, extensive atrophic-appearing RPE changes." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057022" "00420" "00077247" "01695" "Isolated (sporadic)" "" "Stargardt disease; y14: visual acuity 0.1185, small atrophic-appearing foveal lesion and localized perifoveal yellowish-white flecks, extensive loss of inner-outer segment junction (more than 1 disc diameter from the fovea)." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057023" "00420" "00077248" "01695" "Isolated (sporadic)" "" "Stargardt disease; y35: visual acuity 0.07, extensive atrophic-appearing RPE changes." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057024" "00420" "00077249" "01695" "Unknown" "" "Stargardt disease; y21: Central macular atrophy with parafoveal or perifoveal flecks, visual acuity: OD 20/25, OS 20/40." "20y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057025" "00420" "00077250" "01695" "Unknown" "" "Stargardt disease; y46: Central macular atrophy with parafoveal or perifoveal flecks, visual acuity: OD 20/25, OS 20/40, perifoveal scotoma." "32y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057026" "00420" "00077251" "01695" "Unknown" "" "Stargardt disease; y67: Flecks were more numerous and extended anterior to the vascular arcades and/or nasal to the optic disc, visual acuity: OD 20/40, OS 20/150, central scotoma." "43y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057027" "00420" "00077252" "01695" "Unknown" "" "Stargardt disease; y65: Central macular atrophy with parafoveal or perifoveal flecks, visual acuity: OD 20/150, OS 20/200, central scotoma." "48y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057028" "00420" "00077253" "01695" "Unknown" "" "Stargardt disease; y86: Flecks were more numerous and extended anterior to the vascular arcades and/or nasal to the optic disc, visual acuity: OD 20/200, OS 20/200, central scotoma." "64y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057029" "00420" "00077254" "01695" "Familial, autosomal recessive" "" "Stargardt disease; y12: Complete resorption of flecks with choriocapillaris atrophy also within the macula, visual acuity: OD 20/250, OS 20/250, central scotoma." "4y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057030" "00420" "00077255" "01695" "Familial, autosomal recessive" "" "Stargardt disease; y13: Widespread RPE and chorioretinal atrophy throughout the fundus, visual acuity: OD 20/200, OS 20/200, peripapillary ring, central scotoma." "7y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057031" "00420" "00077256" "01695" "Unknown" "" "Stargardt disease; y46: Complete resorption of flecks with choriocapillaris atrophy also within the macula, visual acuity: OD 20/2000, OS 20/2000, peripapillary ring, central scotoma." "7y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057032" "00420" "00077257" "01695" "Unknown" "" "Stargardt disease; y49: Widespread RPE and chorioretinal atrophy throughout the fundus, visual acuity: OD 20/400, OS 20/400, central scotoma." "10y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057033" "00420" "00077258" "01695" "Unknown" "" "Stargardt disease; y59: Widespread RPE and chorioretinal atrophy throughout the fundus, visual acuity: OD 10/400, OS 10/400." "12y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057034" "04214" "00077259" "01695" "Unknown" "" "retinitis pigmentosa; y51: Complete resorption of flecks with choriocapillaris atrophy also within the macula, visual acuity: OD 20/25, OS 20/25, perifoveal scotoma." "20y" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000057035" "00420" "00077260" "01695" "Unknown" "" "Stargardt disease; y19: visual acuity OD 20/400, OS 20/160, peripapillary sparing, discrete flecks, nummular atrophy. Panretinal cone dysfunction with preserved rod function was documented by ERG." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057036" "00420" "00077261" "01695" "Unknown" "" "Stargardt disease; y15: OD 20/160, OS 20/100, few yellowish flecks without autofluorescence, atypical macular degeneration," "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057037" "00420" "00077262" "01695" "Unknown" "" "Stargardt disease; y34: classic Stargardt, visual acuity: OD 20/200, OS 20/200. The full field ERG showed abnormal cone responses with preserved rod function." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057038" "00420" "00077263" "01695" "Unknown" "" "Stargardt disease; Bilateral progressive central visual loss, macular dystrophy or atrophy, and the presence of yellowish-white flecks, visual acuity: OD 20/50, OS 20/32." "22y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057039" "00420" "00077264" "01695" "Unknown" "" "Stargardt disease; Bilateral progressive central visual loss, macular dystrophy or atrophy, and the presence of yellowish-white flecks, visual acuity: OD 20/800, OS 20/400." "30y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057040" "00420" "00077265" "01695" "Unknown" "" "Stargardt disease; Bilateral progressive central visual loss, macular dystrophy or atrophy, and the presence of yellowish-white flecks, visual acuity: OD 20/40, OS 20/32." "60y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057041" "00420" "00077266" "01695" "Unknown" "" "Stargardt disease; Bilateral progressive central visual loss, macular dystrophy or atrophy, and the presence of yellowish-white flecks, visual acuity: OD 20/32, OS 20/32." "40y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057042" "00420" "00077267" "01695" "Unknown" "" "Stargardt disease; Bilateral progressive central visual loss, macular dystrophy or atrophy, and the presence of yellowish-white flecks, visual acuity: OD 20/200, OS 20/250." "16y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057043" "00420" "00077268" "01695" "Unknown" "" "Stargardt disease; Bilateral progressive central visual loss, macular dystrophy or atrophy, and the presence of yellowish-white flecks, visual acuity: OD 20/32, OS 20/800." "50y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057044" "00420" "00077269" "01695" "Unknown" "" "Stargardt disease; Bilateral progressive central visual loss, macular dystrophy or atrophy, and the presence of yellowish-white flecks, visual acuity: OD 20/800, OS 20/800." "10y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057045" "00420" "00077270" "01695" "Unknown" "" "Stargardt disease; Bilateral progressive central visual loss, macular dystrophy or atrophy, and the presence of yellowish-white flecks, visual acuity: OD 20/40, OS 20/50." "19y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057046" "00420" "00077271" "01695" "Unknown" "" "Stargardt disease; Bilateral progressive central visual loss, macular dystrophy or atrophy, and the presence of yellowish-white flecks, visual acuity: OD 20/200, OS 20/200." "20y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057047" "00420" "00077272" "01695" "Unknown" "" "Stargardt disease; Bilateral progressive central visual loss, macular dystrophy or atrophy, and the presence of yellowish-white flecks, visual acuity: OD 20/32, OS 20/20." "50y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057048" "00420" "00077273" "01695" "Unknown" "" "Stargardt disease; Bilateral progressive central visual loss, macular dystrophy or atrophy, and the presence of yellowish-white flecks, visual acuity: OD 20/400, OS 20/400." "70y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057049" "00420" "00077274" "01695" "Unknown" "" "Stargardt disease; Bilateral progressive central visual loss, macular dystrophy or atrophy, and the presence of yellowish-white flecks, visual acuity: OD 20/20, OS 20/40." "50y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057050" "00420" "00077275" "01695" "Isolated (sporadic)" "" "Stargardt disease; sparse flecks extending beyond the arcades" "30y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057051" "00420" "00077276" "01695" "Familial, autosomal recessive" "" "Stargardt disease; flecks confined to the macula" "12y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057052" "00420" "00077277" "01695" "Familial, autosomal recessive" "" "Stargardt disease; flecks confined to the macula" "12y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057053" "00420" "00077278" "01695" "Unknown" "" "Stargardt disease; flecks confined to the macula" "18y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057054" "00420" "00077279" "01695" "Isolated (sporadic)" "" "Stargardt disease; sparse flecks extending beyond the arcades" "17y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057055" "00420" "00077280" "01695" "Unknown" "" "Stargardt disease; sparse flecks extending beyond the arcades" "48y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057056" "00420" "00077281" "01695" "Unknown" "" "Stargardt disease; flecks confined to the macula" "21y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057057" "00420" "00077282" "01695" "Unknown" "" "Stargardt disease; more extensive flecks outside the arcades" "18y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057058" "00420" "00077283" "01695" "Unknown" "" "Stargardt disease; more extensive flecks outside the arcades" "13y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057059" "00420" "00077284" "01695" "Unknown" "" "Stargardt disease; sparse flecks extending beyond the arcades" "26y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057060" "00420" "00077285" "01695" "Isolated (sporadic)" "" "Stargardt disease; sparse flecks extending beyond the arcades" "15y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057061" "00420" "00077286" "01695" "Unknown" "" "Stargardt disease; flecks confined to the macula" "19y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057062" "00420" "00077287" "01695" "Unknown" "" "Stargardt disease; more extensive flecks outside the arcades" "25y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057063" "00420" "00077288" "01695" "Isolated (sporadic)" "" "Stargardt disease; sparse flecks extending beyond the arcades" "10y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057064" "00420" "00077289" "01695" "Isolated (sporadic)" "" "Stargardt disease; more extensive flecks outside the arcades" "28y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057065" "00420" "00077290" "01695" "Familial, autosomal recessive" "" "Stargardt disease; flecks confined to the macula" "17y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057066" "00420" "00077291" "01695" "Familial, autosomal recessive" "" "Stargardt disease; flecks confined to the macula" "17y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057067" "00420" "00077292" "01695" "Unknown" "" "Stargardt disease; flecks confined to the macula" "16y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057068" "00420" "00077293" "01695" "Unknown" "" "Stargardt disease; sparse flecks extending beyond the arcades" "52y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057069" "00420" "00077294" "01695" "Familial, autosomal recessive" "" "Stargardt disease; more extensive flecks outside the arcades" "6y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057070" "00420" "00077295" "01695" "Familial, autosomal recessive" "" "Stargardt disease; more extensive flecks outside the arcades" "6y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057071" "00420" "00077296" "01695" "Unknown" "" "Stargardt disease; more extensive flecks outside the arcades" "12y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057072" "00420" "00077297" "01695" "Familial, autosomal recessive" "" "Stargardt disease; flecks confined to the macula" "58y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057073" "00420" "00077298" "01695" "Familial, autosomal recessive" "" "Stargardt disease; flecks confined to the macula" "58y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057074" "00420" "00077299" "01695" "Familial, autosomal recessive" "" "Stargardt disease; more extensive flecks outside the arcades" "25y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057075" "00420" "00077300" "01695" "Familial, autosomal recessive" "" "Stargardt disease; more extensive flecks outside the arcades" "25y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057076" "00420" "00077301" "01695" "Isolated (sporadic)" "" "Stargardt disease; flecks confined to the macula" "47y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057077" "00420" "00077302" "01695" "Unknown" "" "Stargardt disease; more extensive flecks outside the arcades" "26y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057078" "00420" "00077303" "01695" "Isolated (sporadic)" "" "Stargardt disease; more extensive flecks outside the arcades" "17y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057079" "00420" "00077304" "01695" "Isolated (sporadic)" "" "Stargardt disease; flecks confined to the macula" "4y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057080" "00420" "00077305" "01695" "Unknown" "" "Stargardt disease" "15y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057081" "00420" "00077306" "01695" "Unknown" "" "Stargardt disease" "9y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057082" "00420" "00077307" "01695" "Unknown" "" "Stargardt disease; flecks confined to the macula" "28y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057083" "00420" "00077308" "01695" "Isolated (sporadic)" "" "Stargardt disease; flecks confined to the macula" "25y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057084" "00420" "00077309" "01695" "Unknown" "" "Stargardt disease; sparse flecks extending beyond the arcades" "36y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057085" "00420" "00077310" "01695" "Unknown" "" "Stargardt disease; flecks confined to the macula" "49y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057086" "00420" "00077311" "01695" "Familial, autosomal recessive" "" "Stargardt disease; more extensive flecks outside the arcades" "42y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057087" "00420" "00077312" "01695" "Familial, autosomal recessive" "" "Stargardt disease; more extensive flecks outside the arcades" "42y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057088" "00420" "00077313" "01695" "Unknown" "" "Stargardt disease; sparse flecks extending beyond the arcades" "27y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057089" "00420" "00077314" "01695" "Unknown" "" "Stargardt disease; more extensive flecks outside the arcades" "8y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057090" "00198" "00077315" "01695" "Familial, autosomal recessive" "" "Chorioretinal atrophy" "12y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057091" "00198" "00077316" "01695" "Familial, autosomal recessive" "" "Chorioretinal atrophy" "12y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057092" "00198" "00077317" "01695" "Isolated (sporadic)" "" "Chorioretinal atrophy" "13y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057093" "00198" "00077318" "01695" "Unknown" "" "Chorioretinal atrophy" "19y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057094" "00198" "00077319" "01695" "Familial, autosomal recessive" "" "Chorioretinal atrophy" "6y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057095" "00198" "00077320" "01695" "Familial, autosomal recessive" "" "Chorioretinal atrophy" "6y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057096" "00198" "00077321" "01695" "Unknown" "" "Chorioretinal atrophy" "16y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057097" "00198" "00077322" "01695" "Familial, autosomal recessive" "" "Chorioretinal atrophy" "17y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057098" "00198" "00077323" "01695" "Familial, autosomal recessive" "" "Chorioretinal atrophy" "17y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057099" "04249" "00077324" "01695" "Unknown" "" "macular dystrophy" "21y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057100" "00198" "00077325" "01695" "Familial, autosomal recessive" "" "Bulls-eye maculopathy" "7y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057101" "00198" "00077326" "01695" "Familial, autosomal recessive" "" "Bulls-eye maculopathy" "7y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057102" "00198" "00077327" "01695" "Unknown" "" "Bulls-eye maculopathy" "11y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057103" "00198" "00077328" "01695" "Unknown" "" "Bulls-eye maculopathy" "19y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057104" "00198" "00077329" "01695" "Familial, autosomal recessive" "" "Bulls-eye maculopathy" "41y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057105" "00198" "00077330" "01695" "Unknown" "" "Pattern dystrophy; more extensive flecks outside the arcades" "50y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057106" "00420" "00077331" "01695" "Unknown" "" "Stargardt disease; In her clinical history, the patient reported an ocular trauma in the right eye, which required hospitalization and caused sudden loss of vision y9 years. In 1998, at our first observation, visual acuity was 20/1,000 in the right eye and 20/600 in the left eye. Biomicroscopic examination of the anterior segment showed a nuclear opacity of lens dislocated to the superior site as well as vitreous opacities along the posterior capsule lens in the right eye. Examination of the anterior segment of the left eye did not show any pathologic alterations. Fundus examination revealed an area of subretinal fibrosis associated with diffuse pigmentation in both eyes. ERG showed extinguished scotopic and photopic responses (Lois IV), and retinal fluorangiography reported a degree of hypofluorescence corresponding to flecks and dark choroid. These unusual ocular changes in the manifestation of STGD are probably due to ocular trauma. In fact, a previous ERG, performed in 1984, showed a normal response. In 2009, the patient underwent MP, OCT and FA exam. MP revealed instable fixation in both eyes with no detectable retinal mean sensitivity (0 dB). Finally, FA pointed out the localization of the peculiar area of fibrosis in the left eye. These diagnostic exams could not be performed in the right eye because of a nuclear cataract dislocated in the superior site after ocular trauma. At present time, visual acuity remains unchanged." "6y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057107" "00420" "00077332" "01695" "Unknown" "" "Stargardt disease; The patient came to our observation in 2006 with a visual acuity of 20/32 in the right eye and 20/50 in the left eye. Fundus examination demonstrated the presence of variably pigmented changes in the macula associated with flecks that extended beyond the vascular arcades (Fishman II), and an area of subretinal fibrosis associated with diffuse pigmentation in the superior juxta-papillar region of the right eye. ERG presented subnormal scotopic and photopic responses (Lois II). MP showed instable fixation in both eyes with low retinal mean sensitivity (7.4 dB in the right eye to 8.6 dB in the left eye). Finally, FA pointed out a hypofluorescent central area corresponding to macular atrophy and hypofluorescent areas corresponding to flecks. After 3 years, a new ophthalmological examination showed small atrophic areas, some with pigment, localized in the temporal sector of the left eye. In 2012, these lesions have become areas of subretinal fibrosis localized in an inferior-temporal sector of the midperipheral retina. Visual acuity has gradually reduced. At present, BCVA is 20/200 in both eyes." "11y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057108" "00420" "00077333" "01695" "Unknown" "" "Stargardt disease; She came to our observation in 1998 with a BCVA of 20/100 in both eyes. An ophthalmologic exam reported bilateral atrophic-appearing foveal lesions associated with yellowish-white fundus flecks at the posterior pole (Fishman I). ERG showed subnormal scotopic and photopic responses (Lois II). In 2001, after 3 years, a new ophthalmologic examination showed an area of subretinal fibrosis in the midperiphery of the left eye. Visual acuity was 20/240 in both eyes. The patient underwent retinal fluorangiography that showed a degree of hypofluorescence corresponding to flecks and dark choroid; in the left eye there were hypofluorescent areas due to hyperplasia of RPE and hyperfluorescent areas corresponding to an initial subretinal fibrosis localized in the superior temporal site of the retina." "10y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057109" "00198" "00077334" "01695" "Familial, autosomal recessive" "" "Stargardt disease, early-onset maculopathy; Visual acuity was affected at school age (8–14 years). Macular atrophy was present with some hyperpigmentation and yellowish flecks of the posterior pole with central visual field defects. The peripheral retina was preserved in young adulthood, although progressive retinal atrophy, peripheral retinal function and visual fields diminished in adulthood." ">7y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057110" "00198" "00077335" "01695" "Familial, autosomal recessive" "" "Stargardt disease, early-onset maculopathy; Visual acuity was affected at school age (8–14 years). Macular atrophy was present with some hyperpigmentation and yellowish flecks of the posterior pole with central visual field defects. The peripheral retina was preserved in young adulthood, although progressive retinal atrophy, peripheral retinal function and visual fields diminished in adulthood. The recovery of standardised dark adaptation showed both cone and rod adaptation, with a final visual sensory threshold elevated by 1 log unit. In the full-field electroretinograms, the rod, mixed rod–cone and cone amplitudes were estimated within normal range but the 30-Hz flicker amplitude was decreased to 40% of normal level with prolonged implicit time." "<15y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057111" "00420" "00077336" "01695" "Unknown" "" "Stargardt disease; y17: visual acuity 0.0/1.0 logMar (OD/OS). y26: visual acuity 0.0/0.48 logMar (OD/OS), Clinical assessment included best-corrected Snellen visual acuity (converted to equivalent logarithm of minimal angle of resolution [logMAR] visual acuity for the purpose of data analysis), dilated ophthalmoscopy, and color fundus photography" "16y" "" "when visual loss was first noted by the patient" "" "" "" "" "" "" "" ""
"0000057112" "00420" "00077337" "01695" "Unknown" "" "Stargardt disease; y17: visual acuity 0.78/0.78 logMar (OD/OS). y25: visual acuity 1.0/1.0 logMar (OD/OS), Clinical assessment included best-corrected Snellen visual acuity (converted to equivalent logarithm of minimal angle of resolution [logMAR] visual acuity for the purpose of data analysis), dilated ophthalmoscopy, and color fundus photography" "15y" "" "when visual loss was first noted by the patient" "" "" "" "" "" "" "" ""
"0000057113" "00420" "00077338" "01695" "Unknown" "" "Stargardt disease; y18: visual acuity 0.78/1.0 logMar (OD/OS). y27: visual acuity 1.0/1.0 logMar (OD/OS), Clinical assessment included best-corrected Snellen visual acuity (converted to equivalent logarithm of minimal angle of resolution [logMAR] visual acuity for the purpose of data analysis), dilated ophthalmoscopy, and color fundus photography" "11y" "" "when visual loss was first noted by the patient" "" "" "" "" "" "" "" ""
"0000057114" "00420" "00077339" "01695" "Unknown" "" "Stargardt disease; y21: visual acuity 0.78/0.78 logMar (OD/OS). y32: visual acuity 1.0/1.0 logMar (OD/OS), Clinical assessment included best-corrected Snellen visual acuity (converted to equivalent logarithm of minimal angle of resolution [logMAR] visual acuity for the purpose of data analysis), dilated ophthalmoscopy, and color fundus photography" "19y" "" "when visual loss was first noted by the patient" "" "" "" "" "" "" "" ""
"0000057115" "00420" "00077340" "01695" "Unknown" "" "Stargardt disease; y22: visual acuity 0.48/0.48 logMar (OD/OS). y30: visual acuity 1.0/0.78 logMar (OD/OS), Clinical assessment included best-corrected Snellen visual acuity (converted to equivalent logarithm of minimal angle of resolution [logMAR] visual acuity for the purpose of data analysis), dilated ophthalmoscopy, and color fundus photography" "10y" "" "when visual loss was first noted by the patient" "" "" "" "" "" "" "" ""
"0000057116" "00420" "00077341" "01695" "Unknown" "" "Stargardt disease; y26: visual acuity 0.78/1.0 logMar (OD/OS). y37: visual acuity 1.0/1.0 logMar (OD/OS), Clinical assessment included best-corrected Snellen visual acuity (converted to equivalent logarithm of minimal angle of resolution [logMAR] visual acuity for the purpose of data analysis), dilated ophthalmoscopy, and color fundus photography" "18y" "" "when visual loss was first noted by the patient" "" "" "" "" "" "" "" ""
"0000057117" "00420" "00077342" "01695" "Unknown" "" "Stargardt disease; y29: visual acuity 1.0/0.78 logMar (OD/OS). y38: visual acuity 1.0/1.0 logMar (OD/OS), Clinical assessment included best-corrected Snellen visual acuity (converted to equivalent logarithm of minimal angle of resolution [logMAR] visual acuity for the purpose of data analysis), dilated ophthalmoscopy, and color fundus photography" "24y" "" "when visual loss was first noted by the patient" "" "" "" "" "" "" "" ""
"0000057118" "00420" "00077343" "01695" "Unknown" "" "Stargardt disease; y31: visual acuity 1.0/1.0 logMar (OD/OS). y44: visual acuity 1.3/1.0 logMar (OD/OS), Clinical assessment included best-corrected Snellen visual acuity (converted to equivalent logarithm of minimal angle of resolution [logMAR] visual acuity for the purpose of data analysis), dilated ophthalmoscopy, and color fundus photography" "24y" "" "when visual loss was first noted by the patient" "" "" "" "" "" "" "" ""
"0000057119" "00420" "00077344" "01695" "Unknown" "" "Stargardt disease; y32: visual acuity 0.78/0.78 logMar (OD/OS). y44: visual acuity 1.0/1.0 logMar (OD/OS), Clinical assessment included best-corrected Snellen visual acuity (converted to equivalent logarithm of minimal angle of resolution [logMAR] visual acuity for the purpose of data analysis), dilated ophthalmoscopy, and color fundus photography; y32 visual acuity was 0.78 LogMAR, there was localized low AF signal at the fovea surrounded by a homogeneous background and the size of atrophy was 0.87mm^2 in the left eye. y44, visual acuity was 1 LogMAR, there was localized low AF signal at the macula surrounded by a heterogeneous background, and widespread foci of high or low AF signal extending anterior to the vascular arcades and the size of atrophy was 0.87mm^2 in the left eye." "26y" "" "when visual loss was first noted by the patient" "" "" "" "" "" "" "" ""
"0000057120" "00420" "00077345" "01695" "Unknown" "" "Stargardt disease; y35: visual acuity 1.0/1.0 logMar (OD/OS). y47: visual acuity 1.0/1.0 logMar (OD/OS), Clinical assessment included best-corrected Snellen visual acuity (converted to equivalent logarithm of minimal angle of resolution [logMAR] visual acuity for the purpose of data analysis), dilated ophthalmoscopy, and color fundus photography" "17y" "" "when visual loss was first noted by the patient" "" "" "" "" "" "" "" ""
"0000057121" "00420" "00077346" "01695" "Unknown" "" "Stargardt disease; y35: visual acuity 1.0/0.3 logMar (OD/OS). y45: visual acuity 1.0/0.48 logMar (OD/OS), Clinical assessment included best-corrected Snellen visual acuity (converted to equivalent logarithm of minimal angle of resolution [logMAR] visual acuity for the purpose of data analysis), dilated ophthalmoscopy, and color fundus photography" "23y" "" "when visual loss was first noted by the patient" "" "" "" "" "" "" "" ""
"0000057122" "00420" "00077347" "01695" "Unknown" "" "Stargardt disease; y40: visual acuity 0.18/0.78 logMar (OD/OS). y51: visual acuity 1.0/1.0 logMar (OD/OS), Clinical assessment included best-corrected Snellen visual acuity (converted to equivalent logarithm of minimal angle of resolution [logMAR] visual acuity for the purpose of data analysis), dilated ophthalmoscopy, and color fundus photography" "38y" "" "when visual loss was first noted by the patient" "" "" "" "" "" "" "" ""
"0000057123" "00420" "00077348" "01695" "Unknown" "" "Stargardt disease; y48: visual acuity 1.0/1.0 logMar (OD/OS). y59: visual acuity 1.0/1.0 logMar (OD/OS), Clinical assessment included best-corrected Snellen visual acuity (converted to equivalent logarithm of minimal angle of resolution [logMAR] visual acuity for the purpose of data analysis), dilated ophthalmoscopy, and color fundus photography" "22y" "" "when visual loss was first noted by the patient" "" "" "" "" "" "" "" ""
"0000057124" "00420" "00077349" "01695" "Unknown" "" "Stargardt disease; y49: visual acuity 1.0/0.6 logMar (OD/OS). y59: visual acuity 1.0/1.0 logMar (OD/OS), Clinical assessment included best-corrected Snellen visual acuity (converted to equivalent logarithm of minimal angle of resolution [logMAR] visual acuity for the purpose of data analysis), dilated ophthalmoscopy, and color fundus photography" "20y" "" "when visual loss was first noted by the patient" "" "" "" "" "" "" "" ""
"0000057125" "00420" "00077350" "01695" "Unknown" "" "Stargardt disease; y50: visual acuity 1.0/0.3 logMar (OD/OS). y61: visual acuity 1.0/1.0 logMar (OD/OS), Clinical assessment included best-corrected Snellen visual acuity (converted to equivalent logarithm of minimal angle of resolution [logMAR] visual acuity for the purpose of data analysis), dilated ophthalmoscopy, and color fundus photography" "35y" "" "when visual loss was first noted by the patient" "" "" "" "" "" "" "" ""
"0000057126" "00420" "00077351" "01695" "Unknown" "" "Stargardt disease; y56: visual acuity 1.3/0.18 logMar (OD/OS). y67: visual acuity 1.0/1.0 logMar (OD/OS), Clinical assessment included best-corrected Snellen visual acuity (converted to equivalent logarithm of minimal angle of resolution [logMAR] visual acuity for the purpose of data analysis), dilated ophthalmoscopy, and color fundus photography" "25y" "" "when visual loss was first noted by the patient" "" "" "" "" "" "" "" ""
"0000057127" "00420" "00077352" "01695" "Unknown" "" "Stargardt disease; y59: visual acuity 1.0/0.78 logMar (OD/OS). y71: visual acuity 1.0/1.0 logMar (OD/OS), Clinical assessment included best-corrected Snellen visual acuity (converted to equivalent logarithm of minimal angle of resolution [logMAR] visual acuity for the purpose of data analysis), dilated ophthalmoscopy, and color fundus photography" "48y" "" "when visual loss was first noted by the patient" "" "" "" "" "" "" "" ""
"0000057128" "00420" "00077353" "01695" "Unknown" "" "Stargardt disease; y22: visual acuity 0.3/1.0 logMar (OD/OS). y31: visual acuity 1.0/1.0 logMar (OD/OS), Clinical assessment included best-corrected Snellen visual acuity (converted to equivalent logarithm of minimal angle of resolution [logMAR] visual acuity for the purpose of data analysis), dilated ophthalmoscopy, and color fundus photography" "21y" "" "when visual loss was first noted by the patient" "" "" "" "" "" "" "" ""
"0000057129" "00420" "00077354" "01695" "Unknown" "" "Stargardt disease; y23: visual acuity 1.0/1.0 logMar (OD/OS). y33: visual acuity 1.0/1.0 logMar (OD/OS), Clinical assessment included best-corrected Snellen visual acuity (converted to equivalent logarithm of minimal angle of resolution [logMAR] visual acuity for the purpose of data analysis), dilated ophthalmoscopy, and color fundus photography" "21y" "" "when visual loss was first noted by the patient" "" "" "" "" "" "" "" ""
"0000057130" "00420" "00077355" "01695" "Unknown" "" "Stargardt disease; y64: visual acuity 0.0/1.0 logMar (OD/OS). y73: visual acuity 0.18/3.0 logMar (OD/OS), Clinical assessment included best-corrected Snellen visual acuity (converted to equivalent logarithm of minimal angle of resolution [logMAR] visual acuity for the purpose of data analysis), dilated ophthalmoscopy, and color fundus photography" "48y" "" "when visual loss was first noted by the patient" "" "" "" "" "" "" "" ""
"0000057131" "00420" "00077356" "01695" "Unknown" "" "Stargardt disease; y19: visual acuity 0.78/0.3 logMar (OD/OS). y29: visual acuity 1.0/1.0 logMar (OD/OS), Clinical assessment included best-corrected Snellen visual acuity (converted to equivalent logarithm of minimal angle of resolution [logMAR] visual acuity for the purpose of data analysis), dilated ophthalmoscopy, and color fundus photography" "17y" "" "when visual loss was first noted by the patient" "" "" "" "" "" "" "" ""
"0000057132" "00420" "00077357" "01695" "Unknown" "" "Stargardt disease; y53: visual acuity 1.78/1.78 logMar (OD/OS). y66: visual acuity 1.3/1.0 logMar (OD/OS), Clinical assessment included best-corrected Snellen visual acuity (converted to equivalent logarithm of minimal angle of resolution [logMAR] visual acuity for the purpose of data analysis), dilated ophthalmoscopy, and color fundus photography" "27y" "" "when visual loss was first noted by the patient" "" "" "" "" "" "" "" ""
"0000057133" "00420" "00077358" "01695" "Unknown" "" "Stargardt disease; y14: visual acuity 0.78/0.78 logMar (OD/OS). y21: visual acuity 1.0/1.0 logMar (OD/OS), Clinical assessment included best-corrected Snellen visual acuity (converted to equivalent logarithm of minimal angle of resolution [logMAR] visual acuity for the purpose of data analysis), dilated ophthalmoscopy, and color fundus photography" "5y" "" "when visual loss was first noted by the patient" "" "" "" "" "" "" "" ""
"0000057134" "00420" "00077359" "01695" "Unknown" "" "Stargardt disease; y15: visual acuity 1.08/1.08 logMar (OD/OS). y27: visual acuity 1.0/1.0 logMar (OD/OS), Clinical assessment included best-corrected Snellen visual acuity (converted to equivalent logarithm of minimal angle of resolution [logMAR] visual acuity for the purpose of data analysis), dilated ophthalmoscopy, and color fundus photography" "9y" "" "when visual loss was first noted by the patient" "" "" "" "" "" "" "" ""
"0000057135" "00420" "00077360" "01695" "Unknown" "" "Stargardt disease; y28: visual acuity 1.0/1.0 logMar (OD/OS). y39: visual acuity 1.0/1.0 logMar (OD/OS), Clinical assessment included best-corrected Snellen visual acuity (converted to equivalent logarithm of minimal angle of resolution [logMAR] visual acuity for the purpose of data analysis), dilated ophthalmoscopy, and color fundus photography" "18y" "" "when visual loss was first noted by the patient" "" "" "" "" "" "" "" ""
"0000057136" "00420" "00077361" "01695" "Unknown" "" "Stargardt disease; y29: visual acuity 1.0/1.0 logMar (OD/OS). y37: visual acuity 1.0/1.0 logMar (OD/OS), Clinical assessment included best-corrected Snellen visual acuity (converted to equivalent logarithm of minimal angle of resolution [logMAR] visual acuity for the purpose of data analysis), dilated ophthalmoscopy, and color fundus photography" "14y" "" "when visual loss was first noted by the patient" "" "" "" "" "" "" "" ""
"0000057137" "00420" "00077362" "01695" "Unknown" "" "Stargardt disease; y40: visual acuity 0.3/0.48 logMar (OD/OS). y49: visual acuity 1.0/1.0 logMar (OD/OS), Clinical assessment included best-corrected Snellen visual acuity (converted to equivalent logarithm of minimal angle of resolution [logMAR] visual acuity for the purpose of data analysis), dilated ophthalmoscopy, and color fundus photography" "34y" "" "when visual loss was first noted by the patient" "" "" "" "" "" "" "" ""
"0000057138" "00420" "00077363" "01695" "Unknown" "" "Stargardt disease; y43: visual acuity 1.0/1.0 logMar (OD/OS). y54: visual acuity 1.0/1.0 logMar (OD/OS), Clinical assessment included best-corrected Snellen visual acuity (converted to equivalent logarithm of minimal angle of resolution [logMAR] visual acuity for the purpose of data analysis), dilated ophthalmoscopy, and color fundus photography" "25y" "" "when visual loss was first noted by the patient" "" "" "" "" "" "" "" ""
"0000057139" "00420" "00077364" "01695" "Unknown" "" "Stargardt disease; y60: visual acuity 1.0/1.0 logMar (OD/OS). y69: visual acuity 1.3/1.08 logMar (OD/OS), Clinical assessment included best-corrected Snellen visual acuity (converted to equivalent logarithm of minimal angle of resolution [logMAR] visual acuity for the purpose of data analysis), dilated ophthalmoscopy, and color fundus photography; y58 visual acuity was 1 LogMAR, there was localized low AF signal at the macula surrounded by a heterogeneous background, and widespread foci of high or low AF signal extending anterior to the vascular arcades and the size of atrophy was 0.66mm^2 in the left eye. y67, visual acuity was 2.28 LogMAR, there was localized low AF signal at the macula surrounded by a heterogeneous background, and widespread foci of high or low AF signal extending anterior to the vascular arcades and the size of atrophy was 0.66mm^2 in the left eye." "<48y" "" "when visual loss was first noted by the patient" "" "" "" "" "" "" "" ""
"0000057140" "00420" "00077365" "01695" "Unknown" "" "Stargardt disease; y11: visual acuity 1.0/0.78 logMar (OD/OS). y20: visual acuity 1.3/1.3 logMar (OD/OS), Clinical assessment included best-corrected Snellen visual acuity (converted to equivalent logarithm of minimal angle of resolution [logMAR] visual acuity for the purpose of data analysis), dilated ophthalmoscopy, and color fundus photography" "10y" "" "when visual loss was first noted by the patient" "" "" "" "" "" "" "" ""
"0000057141" "00420" "00077366" "01695" "Unknown" "" "Stargardt disease; y15: visual acuity 1.0/1.0 logMar (OD/OS). y23: visual acuity 1.3/1.3 logMar (OD/OS), Clinical assessment included best-corrected Snellen visual acuity (converted to equivalent logarithm of minimal angle of resolution [logMAR] visual acuity for the purpose of data analysis), dilated ophthalmoscopy, and color fundus photography" "10y" "" "when visual loss was first noted by the patient" "" "" "" "" "" "" "" ""
"0000057142" "00420" "00077367" "01695" "Unknown" "" "Stargardt disease; y25: visual acuity 1.56/0.3 logMar (OD/OS). y38: visual acuity 2.0/2.0 logMar (OD/OS), Clinical assessment included best-corrected Snellen visual acuity (converted to equivalent logarithm of minimal angle of resolution [logMAR] visual acuity for the purpose of data analysis), dilated ophthalmoscopy, and color fundus photography" "24y" "" "when visual loss was first noted by the patient" "" "" "" "" "" "" "" ""
"0000057143" "00420" "00077368" "01695" "Unknown" "" "Stargardt disease; y35: visual acuity 1.3/0.0 logMar (OD/OS). y46: visual acuity 3.0/1.0 logMar (OD/OS), Clinical assessment included best-corrected Snellen visual acuity (converted to equivalent logarithm of minimal angle of resolution [logMAR] visual acuity for the purpose of data analysis), dilated ophthalmoscopy, and color fundus photography" "32y" "" "when visual loss was first noted by the patient" "" "" "" "" "" "" "" ""
"0000057144" "00420" "00077369" "01695" "Unknown" "" "Stargardt disease; y41: visual acuity 1.3/1.3 logMar (OD/OS). y49: visual acuity 2.0/1.3 logMar (OD/OS), Clinical assessment included best-corrected Snellen visual acuity (converted to equivalent logarithm of minimal angle of resolution [logMAR] visual acuity for the purpose of data analysis), dilated ophthalmoscopy, and color fundus photography" "15y" "" "when visual loss was first noted by the patient" "" "" "" "" "" "" "" ""
"0000057145" "00420" "00077370" "01695" "Unknown" "" "Stargardt disease; y8: visual acuity 0.78/0.78 logMar (OD/OS). y20: visual acuity 1.0/1.0 logMar (OD/OS), Clinical assessment included best-corrected Snellen visual acuity (converted to equivalent logarithm of minimal angle of resolution [logMAR] visual acuity for the purpose of data analysis), dilated ophthalmoscopy, and color fundus photography" "8y" "" "when visual loss was first noted by the patient" "" "" "" "" "" "" "" ""
"0000057146" "00420" "00077371" "01695" "Unknown" "" "Stargardt disease; y11: visual acuity 1.0/1.0 logMar (OD/OS). y23: visual acuity 1.0/1.0 logMar (OD/OS), Clinical assessment included best-corrected Snellen visual acuity (converted to equivalent logarithm of minimal angle of resolution [logMAR] visual acuity for the purpose of data analysis), dilated ophthalmoscopy, and color fundus photography" "10y" "" "when visual loss was first noted by the patient" "" "" "" "" "" "" "" ""
"0000057147" "00420" "00077372" "01695" "Unknown" "" "Stargardt disease; y12: visual acuity 2.0/1.56 logMar (OD/OS). y24: visual acuity 1.78/1.48 logMar (OD/OS), Clinical assessment included best-corrected Snellen visual acuity (converted to equivalent logarithm of minimal angle of resolution [logMAR] visual acuity for the purpose of data analysis), dilated ophthalmoscopy, and color fundus photography" "8y" "" "when visual loss was first noted by the patient" "" "" "" "" "" "" "" ""
"0000057148" "00420" "00077373" "01695" "Unknown" "" "Stargardt disease; y18: visual acuity 1.0/0.78 logMar (OD/OS). y26: visual acuity 1.3/1.0 logMar (OD/OS), Clinical assessment included best-corrected Snellen visual acuity (converted to equivalent logarithm of minimal angle of resolution [logMAR] visual acuity for the purpose of data analysis), dilated ophthalmoscopy, and color fundus photography" "17y" "" "when visual loss was first noted by the patient" "" "" "" "" "" "" "" ""
"0000057149" "00420" "00077374" "01695" "Unknown" "" "Stargardt disease; y21: visual acuity 1.3/1.3 logMar (OD/OS). y33: visual acuity 2.0/2.0 logMar (OD/OS), Clinical assessment included best-corrected Snellen visual acuity (converted to equivalent logarithm of minimal angle of resolution [logMAR] visual acuity for the purpose of data analysis), dilated ophthalmoscopy, and color fundus photography" "8y" "" "when visual loss was first noted by the patient" "" "" "" "" "" "" "" ""
"0000057150" "00420" "00077375" "01695" "Unknown" "" "Stargardt disease; y27: visual acuity 2.0/1.56 logMar (OD/OS). y39: visual acuity 1.78/1.48 logMar (OD/OS), Clinical assessment included best-corrected Snellen visual acuity (converted to equivalent logarithm of minimal angle of resolution [logMAR] visual acuity for the purpose of data analysis), dilated ophthalmoscopy, and color fundus photography" "8y" "" "when visual loss was first noted by the patient" "" "" "" "" "" "" "" ""
"0000057151" "00420" "00077376" "01695" "Unknown" "" "Stargardt disease; y31: visual acuity 1.18/1.18 logMar (OD/OS). y43: visual acuity 1.08/1.3 logMar (OD/OS), Clinical assessment included best-corrected Snellen visual acuity (converted to equivalent logarithm of minimal angle of resolution [logMAR] visual acuity for the purpose of data analysis), dilated ophthalmoscopy, and color fundus photography" "24y" "" "when visual loss was first noted by the patient" "" "" "" "" "" "" "" ""
"0000057152" "00420" "00077377" "01695" "Unknown" "" "Stargardt disease; y31: visual acuity 1.3/1.3 logMar (OD/OS). y42: visual acuity 2.0/2.0 logMar (OD/OS), Clinical assessment included best-corrected Snellen visual acuity (converted to equivalent logarithm of minimal angle of resolution [logMAR] visual acuity for the purpose of data analysis), dilated ophthalmoscopy, and color fundus photography" "11y" "" "when visual loss was first noted by the patient" "" "" "" "" "" "" "" ""
"0000057153" "00420" "00077378" "01695" "Unknown" "" "Stargardt disease; y32: visual acuity 2.0/2.0 logMar (OD/OS). y43: visual acuity 2.0/2.0 logMar (OD/OS), Clinical assessment included best-corrected Snellen visual acuity (converted to equivalent logarithm of minimal angle of resolution [logMAR] visual acuity for the purpose of data analysis), dilated ophthalmoscopy, and color fundus photography" "5y" "" "when visual loss was first noted by the patient" "" "" "" "" "" "" "" ""
"0000057154" "00420" "00077379" "01695" "Unknown" "" "Stargardt disease; y32: visual acuity 2.0/2.0 logMar (OD/OS). y43: visual acuity 2.0/2.0 logMar (OD/OS), Clinical assessment included best-corrected Snellen visual acuity (converted to equivalent logarithm of minimal angle of resolution [logMAR] visual acuity for the purpose of data analysis), dilated ophthalmoscopy, and color fundus photography" "5y" "" "when visual loss was first noted by the patient" "" "" "" "" "" "" "" ""
"0000057155" "00198" "00077380" "01695" "Unknown" "" "Stargardt disease/cone dystrophy or bull\'s eye maculopathy; y36: visual acuity 1.3/1.3 logMar (OD/OS). y47: visual acuity 3.0/1.3 logMar (OD/OS), Clinical assessment included best-corrected Snellen visual acuity (converted to equivalent logarithm of minimal angle of resolution [logMAR] visual acuity for the purpose of data analysis), dilated ophthalmoscopy, and color fundus photography. Annular retinal pigment epithelium (RPE) disturbance, a ring of increased autofluorescence surrounding decreased foveal autofluorescence, visual acuity: OD 6/24, OS 6/24." "7y" "" "when visual loss was first noted by the patient" "" "" "" "" "" "" "" ""
"0000057156" "00420" "00077381" "01695" "Unknown" "" "Stargardt disease; y42: visual acuity 1.56/1.0 logMar (OD/OS). y52: visual acuity 1.0/1.0 logMar (OD/OS), Clinical assessment included best-corrected Snellen visual acuity (converted to equivalent logarithm of minimal angle of resolution [logMAR] visual acuity for the purpose of data analysis), dilated ophthalmoscopy, and color fundus photography" "23y" "" "when visual loss was first noted by the patient" "" "" "" "" "" "" "" ""
"0000057157" "00420" "00077382" "01695" "Unknown" "" "Stargardt disease; y54: visual acuity 0.78/1.0 logMar (OD/OS). y65: visual acuity 1.0/1.0 logMar (OD/OS), Clinical assessment included best-corrected Snellen visual acuity (converted to equivalent logarithm of minimal angle of resolution [logMAR] visual acuity for the purpose of data analysis), dilated ophthalmoscopy, and color fundus photography" "23y" "" "when visual loss was first noted by the patient" "" "" "" "" "" "" "" ""
"0000057158" "00420" "00077383" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss (central and peripheral visual field computerized testing), a retinal “beaten-bronze” foveal appearance and/or yellow-whitish flecks from the posterior pole to the midperiphery, normal caliber of the retinal vessels a typical dark choroid in fluorescein angiography." "<20y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057159" "00420" "00077384" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss (central and peripheral visual field computerized testing), a retinal “beaten-bronze” foveal appearance and/or yellow-whitish flecks from the posterior pole to the midperiphery, normal caliber of the retinal vessels a typical dark choroid in fluorescein angiography." "<21y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057160" "00420" "00077385" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss (central and peripheral visual field computerized testing), a retinal “beaten-bronze” foveal appearance and/or yellow-whitish flecks from the posterior pole to the midperiphery, normal caliber of the retinal vessels a typical dark choroid in fluorescein angiography." "<22y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057161" "00420" "00077386" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss (central and peripheral visual field computerized testing), a retinal “beaten-bronze” foveal appearance and/or yellow-whitish flecks from the posterior pole to the midperiphery, normal caliber of the retinal vessels a typical dark choroid in fluorescein angiography." "<23y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057162" "00420" "00077387" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss (central and peripheral visual field computerized testing), a retinal “beaten-bronze” foveal appearance and/or yellow-whitish flecks from the posterior pole to the midperiphery, normal caliber of the retinal vessels a typical dark choroid in fluorescein angiography." "<24y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057163" "00420" "00077388" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss (central and peripheral visual field computerized testing), a retinal “beaten-bronze” foveal appearance and/or yellow-whitish flecks from the posterior pole to the midperiphery, normal caliber of the retinal vessels a typical dark choroid in fluorescein angiography." "<25y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057164" "00420" "00077389" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss (central and peripheral visual field computerized testing), a retinal “beaten-bronze” foveal appearance and/or yellow-whitish flecks from the posterior pole to the midperiphery, normal caliber of the retinal vessels a typical dark choroid in fluorescein angiography." "<26y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057165" "00420" "00077390" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss (central and peripheral visual field computerized testing), a retinal “beaten-bronze” foveal appearance and/or yellow-whitish flecks from the posterior pole to the midperiphery, normal caliber of the retinal vessels a typical dark choroid in fluorescein angiography." "<27y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057166" "00420" "00077391" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss (central and peripheral visual field computerized testing), a retinal “beaten-bronze” foveal appearance and/or yellow-whitish flecks from the posterior pole to the midperiphery, normal caliber of the retinal vessels a typical dark choroid in fluorescein angiography." "<28y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057167" "00420" "00077392" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss (central and peripheral visual field computerized testing), a retinal “beaten-bronze” foveal appearance and/or yellow-whitish flecks from the posterior pole to the midperiphery, normal caliber of the retinal vessels a typical dark choroid in fluorescein angiography." "<29y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057168" "00420" "00077393" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss (central and peripheral visual field computerized testing), a retinal “beaten-bronze” foveal appearance and/or yellow-whitish flecks from the posterior pole to the midperiphery, normal caliber of the retinal vessels a typical dark choroid in fluorescein angiography." "<30y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057169" "00420" "00077394" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss (central and peripheral visual field computerized testing), a retinal “beaten-bronze” foveal appearance and/or yellow-whitish flecks from the posterior pole to the midperiphery, normal caliber of the retinal vessels a typical dark choroid in fluorescein angiography." "<31y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057170" "00420" "00077395" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss (central and peripheral visual field computerized testing), a retinal “beaten-bronze” foveal appearance and/or yellow-whitish flecks from the posterior pole to the midperiphery, normal caliber of the retinal vessels a typical dark choroid in fluorescein angiography." "<32y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057171" "00420" "00077396" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss (central and peripheral visual field computerized testing), a retinal “beaten-bronze” foveal appearance and/or yellow-whitish flecks from the posterior pole to the midperiphery, normal caliber of the retinal vessels a typical dark choroid in fluorescein angiography." "<33y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057172" "00420" "00077397" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss (central and peripheral visual field computerized testing), a retinal “beaten-bronze” foveal appearance and/or yellow-whitish flecks from the posterior pole to the midperiphery, normal caliber of the retinal vessels a typical dark choroid in fluorescein angiography." "<34y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057173" "00420" "00077398" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss (central and peripheral visual field computerized testing), a retinal “beaten-bronze” foveal appearance and/or yellow-whitish flecks from the posterior pole to the midperiphery, normal caliber of the retinal vessels a typical dark choroid in fluorescein angiography." "<35y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057174" "00420" "00077399" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss (central and peripheral visual field computerized testing), a retinal “beaten-bronze” foveal appearance and/or yellow-whitish flecks from the posterior pole to the midperiphery, normal caliber of the retinal vessels a typical dark choroid in fluorescein angiography." "<36y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057175" "00420" "00077400" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss (central and peripheral visual field computerized testing), a retinal “beaten-bronze” foveal appearance and/or yellow-whitish flecks from the posterior pole to the midperiphery, normal caliber of the retinal vessels a typical dark choroid in fluorescein angiography." "<37y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057176" "00420" "00077401" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss (central and peripheral visual field computerized testing), a retinal “beaten-bronze” foveal appearance and/or yellow-whitish flecks from the posterior pole to the midperiphery, normal caliber of the retinal vessels a typical dark choroid in fluorescein angiography." "<38y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057177" "00420" "00077402" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss (central and peripheral visual field computerized testing), a retinal “beaten-bronze” foveal appearance and/or yellow-whitish flecks from the posterior pole to the midperiphery, normal caliber of the retinal vessels a typical dark choroid in fluorescein angiography." "<39y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057178" "00420" "00077403" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss (central and peripheral visual field computerized testing), a retinal “beaten-bronze” foveal appearance and/or yellow-whitish flecks from the posterior pole to the midperiphery, normal caliber of the retinal vessels a typical dark choroid in fluorescein angiography." "<40y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057179" "00420" "00077404" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss (central and peripheral visual field computerized testing), a retinal “beaten-bronze” foveal appearance and/or yellow-whitish flecks from the posterior pole to the midperiphery, normal caliber of the retinal vessels a typical dark choroid in fluorescein angiography." "<41y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057180" "00420" "00077405" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss (central and peripheral visual field computerized testing), a retinal “beaten-bronze” foveal appearance and/or yellow-whitish flecks from the posterior pole to the midperiphery, normal caliber of the retinal vessels a typical dark choroid in fluorescein angiography." "<42y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057181" "00420" "00077406" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss (central and peripheral visual field computerized testing), a retinal “beaten-bronze” foveal appearance and/or yellow-whitish flecks from the posterior pole to the midperiphery, normal caliber of the retinal vessels a typical dark choroid in fluorescein angiography." "<43y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057182" "00420" "00077407" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss (central and peripheral visual field computerized testing), a retinal “beaten-bronze” foveal appearance and/or yellow-whitish flecks from the posterior pole to the midperiphery, normal caliber of the retinal vessels a typical dark choroid in fluorescein angiography." "<44y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057183" "00420" "00077408" "01695" "Unknown" "" "Stargardt disease" "6y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057184" "00420" "00077409" "01695" "Unknown" "" "Stargardt disease" "6y6m" "" "unknown" "" "" "" "" "" "" "" ""
"0000057185" "00420" "00077410" "01695" "Unknown" "" "Stargardt disease" "6y6m" "" "unknown" "" "" "" "" "" "" "" ""
"0000057186" "00420" "00077411" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057187" "00420" "00077412" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057188" "00420" "00077413" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057189" "00420" "00077414" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057190" "00420" "00077415" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057191" "00420" "00077416" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057192" "00420" "00077417" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057193" "00420" "00077418" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057194" "00420" "00077419" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057195" "00420" "00077420" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057196" "00420" "00077421" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057197" "00420" "00077422" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057198" "00420" "00077423" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057199" "00420" "00077424" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057200" "00420" "00077425" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057201" "00420" "00077426" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057202" "00420" "00077427" "01695" "Unknown" "" "Stargardt disease" "8y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057203" "00420" "00077428" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057204" "00420" "00077429" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057205" "00420" "00077430" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057206" "00420" "00077431" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057207" "00420" "00077432" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057208" "00420" "00077433" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057209" "00420" "00077434" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057210" "00420" "00077435" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057211" "00420" "00077436" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057212" "00420" "00077437" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057213" "00420" "00077438" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057214" "00420" "00077439" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057215" "00420" "00077440" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057216" "00420" "00077441" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057217" "00420" "00077442" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057218" "00420" "00077443" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057219" "00420" "00077444" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057220" "00420" "00077445" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057221" "00420" "00077446" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057222" "00420" "00077447" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057223" "00420" "00077448" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057224" "00420" "00077449" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057225" "00420" "00077450" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057226" "00420" "00077451" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057227" "00420" "00077452" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057228" "00420" "00077453" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057229" "00420" "00077454" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057230" "00420" "00077455" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057231" "00420" "00077456" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057232" "00420" "00077457" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057233" "00420" "00077458" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057234" "00420" "00077459" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057235" "00420" "00077460" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057236" "00420" "00077461" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057237" "00420" "00077462" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057238" "00420" "00077463" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057239" "00420" "00077464" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057240" "00420" "00077465" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057241" "00420" "00077466" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057242" "00420" "00077467" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057243" "00420" "00077468" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057244" "00420" "00077469" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057245" "00420" "00077470" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057246" "00420" "00077471" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057247" "00420" "00077472" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057248" "00420" "00077473" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057249" "00420" "00077474" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057250" "00420" "00077475" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057251" "00420" "00077476" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057252" "00420" "00077477" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057253" "00420" "00077478" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057254" "00420" "00077479" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057255" "00420" "00077480" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057256" "00420" "00077481" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057257" "00420" "00077482" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057258" "00420" "00077483" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057259" "00420" "00077484" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057260" "00420" "00077485" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057261" "00420" "00077486" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057262" "00420" "00077487" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057263" "00420" "00077488" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057264" "00420" "00077489" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057265" "00420" "00077490" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057266" "00420" "00077491" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057267" "00420" "00077492" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057268" "00420" "00077493" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057269" "00420" "00077494" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057270" "00420" "00077495" "01695" "Unknown" "" "Stargardt disease" "11y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057271" "00420" "00077496" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057272" "00420" "00077497" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057273" "00420" "00077498" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057274" "00420" "00077499" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057275" "00420" "00077500" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057276" "00420" "00077501" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057277" "00420" "00077502" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057278" "00420" "00077503" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057279" "00420" "00077504" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057280" "00420" "00077505" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057281" "00420" "00077506" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057282" "00420" "00077507" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057283" "00420" "00077508" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057284" "00420" "00077509" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057285" "00420" "00077510" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057286" "00420" "00077511" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057287" "00420" "00077512" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057288" "00420" "00077513" "01695" "Unknown" "" "Stargardt disease" "17y6m" "" "unknown" "" "" "" "" "" "" "" ""
"0000057289" "00420" "00077514" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057290" "00420" "00077515" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057291" "00420" "00077516" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057292" "00420" "00077517" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057293" "00420" "00077518" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057294" "00420" "00077519" "01695" "Unknown" "" "Stargardt disease" "20y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057295" "00420" "00077520" "01695" "Unknown" "" "Stargardt disease" "28y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057296" "00420" "00077521" "01695" "Unknown" "" "Stargardt disease" "28y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057297" "00420" "00077522" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057298" "00420" "00077523" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057299" "00420" "00077524" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057300" "00420" "00077525" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057301" "04214" "00077526" "01695" "Familial, autosomal recessive" "26y" "retinitis pigmentosa; Night blindness, peripheral vision loss, pigmentary retinal degeneration, and markedly reduced scotopic ERG results." "" "" "any symptom of visual impairment" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000057302" "04214" "00077527" "01695" "Unknown" "" "retinitis pigmentosa; Night blindness, peripheral vision loss, pigmentary retinal degeneration, and markedly reduced scotopic ERG results." "" "" "any symptom of visual impairment" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000057303" "04214" "00077528" "01695" "Unknown" "" "retinitis pigmentosa; Night blindness, peripheral vision loss, pigmentary retinal degeneration, and markedly reduced scotopic ERG results." "" "" "any symptom of visual impairment" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000057304" "04214" "00077529" "01695" "Unknown" "" "retinitis pigmentosa; Night blindness, peripheral vision loss, pigmentary retinal degeneration, and markedly reduced scotopic ERG results." "" "" "any symptom of visual impairment" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000057305" "04214" "00077530" "01695" "Unknown" "" "retinitis pigmentosa; Night blindness, peripheral vision loss, pigmentary retinal degeneration, and markedly reduced scotopic ERG results." "" "" "any symptom of visual impairment" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000057306" "04214" "00077531" "01695" "Unknown" "" "retinitis pigmentosa; Night blindness, peripheral vision loss, pigmentary retinal degeneration, and markedly reduced scotopic ERG results." "" "" "any symptom of visual impairment" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000057307" "04214" "00077532" "01695" "Unknown" "" "retinitis pigmentosa; Night blindness, peripheral vision loss, pigmentary retinal degeneration, and markedly reduced scotopic ERG results." "" "" "any symptom of visual impairment" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000057308" "04214" "00077533" "01695" "Unknown" "" "retinitis pigmentosa; Night blindness, peripheral vision loss, pigmentary retinal degeneration, and markedly reduced scotopic ERG results." "" "" "any symptom of visual impairment" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000057309" "00058" "00077534" "01695" "Unknown" "" "cone-rod dystrophy (HP:0000510); Poor visual acuity; impairment of color vision; funduscopic evidence of atrophic macular degeneration; peripheral disturbances including pigment clumping, pigment epithelial thinning, or both; and greater or earlier loss of cone rather than rod ERG amplitude." "5y" "" "initial reports of blurred central vision without a history of night blindness" "" "" "" "" "" "" "" ""
"0000057310" "00058" "00077535" "01695" "Unknown" "" "cone-rod dystrophy (HP:0000510); Poor visual acuity; impairment of color vision; funduscopic evidence of atrophic macular degeneration; peripheral disturbances including pigment clumping, pigment epithelial thinning, or both; and greater or earlier loss of cone rather than rod ERG amplitude." "7y" "" "initial reports of blurred central vision without a history of night blindness" "" "" "" "" "" "" "" ""
"0000057311" "00058" "00077536" "01695" "Unknown" "" "cone-rod dystrophy (HP:0000510); Poor visual acuity; impairment of color vision; funduscopic evidence of atrophic macular degeneration; peripheral disturbances including pigment clumping, pigment epithelial thinning, or both; and greater or earlier loss of cone rather than rod ERG amplitude." "7y" "" "initial reports of blurred central vision without a history of night blindness" "" "" "" "" "" "" "" ""
"0000057312" "00058" "00077537" "01695" "Unknown" "" "cone-rod dystrophy (HP:0000510); Poor visual acuity; impairment of color vision; funduscopic evidence of atrophic macular degeneration; peripheral disturbances including pigment clumping, pigment epithelial thinning, or both; and greater or earlier loss of cone rather than rod ERG amplitude." "8y" "" "initial reports of blurred central vision without a history of night blindness" "" "" "" "" "" "" "" ""
"0000057313" "00058" "00077538" "01695" "Unknown" "" "cone-rod dystrophy (HP:0000510); Poor visual acuity; impairment of color vision; funduscopic evidence of atrophic macular degeneration; peripheral disturbances including pigment clumping, pigment epithelial thinning, or both; and greater or earlier loss of cone rather than rod ERG amplitude." "8y" "" "initial reports of blurred central vision without a history of night blindness" "" "" "" "" "" "" "" ""
"0000057314" "00058" "00077539" "01695" "Unknown" "" "cone-rod dystrophy (HP:0000510); Poor visual acuity; impairment of color vision; funduscopic evidence of atrophic macular degeneration; peripheral disturbances including pigment clumping, pigment epithelial thinning, or both; and greater or earlier loss of cone rather than rod ERG amplitude." "8y" "" "initial reports of blurred central vision without a history of night blindness" "" "" "" "" "" "" "" ""
"0000057315" "00058" "00077540" "01695" "Unknown" "" "cone-rod dystrophy (HP:0000510); Poor visual acuity; impairment of color vision; funduscopic evidence of atrophic macular degeneration; peripheral disturbances including pigment clumping, pigment epithelial thinning, or both; and greater or earlier loss of cone rather than rod ERG amplitude." "8y" "" "initial reports of blurred central vision without a history of night blindness" "" "" "" "" "" "" "" ""
"0000057316" "00058" "00077541" "01695" "Unknown" "" "cone-rod dystrophy (HP:0000510); Poor visual acuity; impairment of color vision; funduscopic evidence of atrophic macular degeneration; peripheral disturbances including pigment clumping, pigment epithelial thinning, or both; and greater or earlier loss of cone rather than rod ERG amplitude." "8y" "" "initial reports of blurred central vision without a history of night blindness" "" "" "" "" "" "" "" ""
"0000057317" "00058" "00077542" "01695" "Unknown" "" "cone-rod dystrophy (HP:0000510); Poor visual acuity; impairment of color vision; funduscopic evidence of atrophic macular degeneration; peripheral disturbances including pigment clumping, pigment epithelial thinning, or both; and greater or earlier loss of cone rather than rod ERG amplitude." "8y" "" "initial reports of blurred central vision without a history of night blindness" "" "" "" "" "" "" "" ""
"0000057318" "00058" "00077543" "01695" "Unknown" "" "cone-rod dystrophy (HP:0000510); Poor visual acuity; impairment of color vision; funduscopic evidence of atrophic macular degeneration; peripheral disturbances including pigment clumping, pigment epithelial thinning, or both; and greater or earlier loss of cone rather than rod ERG amplitude." "9y" "" "initial reports of blurred central vision without a history of night blindness" "" "" "" "" "" "" "" ""
"0000057319" "00058" "00077544" "01695" "Unknown" "" "cone-rod dystrophy (HP:0000510); Poor visual acuity; impairment of color vision; funduscopic evidence of atrophic macular degeneration; peripheral disturbances including pigment clumping, pigment epithelial thinning, or both; and greater or earlier loss of cone rather than rod ERG amplitude." "10y" "" "initial reports of blurred central vision without a history of night blindness" "" "" "" "" "" "" "" ""
"0000057320" "00058" "00077545" "01695" "Familial, autosomal recessive" "" "cone-rod dystrophy (HP:0000510); poor visual acuity; impairment of color vision; funduscopic evidence of atrophic macular degeneration; peripheral disturbances including pigment clumping, pigment epithelial thinning, or both; and greater or earlier loss of cone rather than rod ERG amplitude." "10y" "" "initial reports of blurred central vision without a history of night blindness" "" "" "" "" "" "40y" "" ""
"0000057321" "00058" "00077546" "01695" "Unknown" "" "cone-rod dystrophy (HP:0000510); Poor visual acuity; impairment of color vision; funduscopic evidence of atrophic macular degeneration; peripheral disturbances including pigment clumping, pigment epithelial thinning, or both; and greater or earlier loss of cone rather than rod ERG amplitude." "11y" "" "initial reports of blurred central vision without a history of night blindness" "" "" "" "" "" "" "" ""
"0000057322" "00058" "00077547" "01695" "Unknown" "" "cone-rod dystrophy (HP:0000510); Poor visual acuity; impairment of color vision; funduscopic evidence of atrophic macular degeneration; peripheral disturbances including pigment clumping, pigment epithelial thinning, or both; and greater or earlier loss of cone rather than rod ERG amplitude." "12y" "" "initial reports of blurred central vision without a history of night blindness" "" "" "" "" "" "" "" ""
"0000057323" "00058" "00077548" "01695" "Unknown" "" "cone-rod dystrophy (HP:0000510); Poor visual acuity; impairment of color vision; funduscopic evidence of atrophic macular degeneration; peripheral disturbances including pigment clumping, pigment epithelial thinning, or both; and greater or earlier loss of cone rather than rod ERG amplitude." "13y" "" "initial reports of blurred central vision without a history of night blindness" "" "" "" "" "" "" "" ""
"0000057324" "00058" "00077549" "01695" "Unknown" "" "cone-rod dystrophy (HP:0000510); Poor visual acuity; impairment of color vision; funduscopic evidence of atrophic macular degeneration; peripheral disturbances including pigment clumping, pigment epithelial thinning, or both; and greater or earlier loss of cone rather than rod ERG amplitude." "15y" "" "initial reports of blurred central vision without a history of night blindness" "" "" "" "" "" "" "" ""
"0000057325" "00058" "00077550" "01695" "Unknown" "" "cone-rod dystrophy (HP:0000510); Poor visual acuity; impairment of color vision; funduscopic evidence of atrophic macular degeneration; peripheral disturbances including pigment clumping, pigment epithelial thinning, or both; and greater or earlier loss of cone rather than rod ERG amplitude." "16y" "" "initial reports of blurred central vision without a history of night blindness" "" "" "" "" "" "" "" ""
"0000057326" "00058" "00077551" "01695" "Unknown" "" "cone-rod dystrophy (HP:0000510); Poor visual acuity; impairment of color vision; funduscopic evidence of atrophic macular degeneration; peripheral disturbances including pigment clumping, pigment epithelial thinning, or both; and greater or earlier loss of cone rather than rod ERG amplitude." "17y" "" "initial reports of blurred central vision without a history of night blindness" "" "" "" "" "" "" "" ""
"0000057327" "00058" "00077552" "01695" "Unknown" "" "cone-rod dystrophy (HP:0000510); Poor visual acuity; impairment of color vision; funduscopic evidence of atrophic macular degeneration; peripheral disturbances including pigment clumping, pigment epithelial thinning, or both; and greater or earlier loss of cone rather than rod ERG amplitude." "20y" "" "initial reports of blurred central vision without a history of night blindness" "" "" "" "" "" "" "" ""
"0000057328" "00058" "00077553" "01695" "Unknown" "" "cone-rod dystrophy (HP:0000510); Poor visual acuity; impairment of color vision; funduscopic evidence of atrophic macular degeneration; peripheral disturbances including pigment clumping, pigment epithelial thinning, or both; and greater or earlier loss of cone rather than rod ERG amplitude." "" "" "initial reports of blurred central vision without a history of night blindness" "" "" "" "" "" "" "" ""
"0000057329" "00058" "00077554" "01695" "Unknown" "" "cone-rod dystrophy (HP:0000510); Poor visual acuity; impairment of color vision; funduscopic evidence of atrophic macular degeneration; peripheral disturbances including pigment clumping, pigment epithelial thinning, or both; and greater or earlier loss of cone rather than rod ERG amplitude." "0d" "" "initial reports of blurred central vision without a history of night blindness" "" "" "" "" "" "" "" ""
"0000057330" "00058" "00077555" "01695" "Unknown" "" "cone-rod dystrophy (HP:0000510); Poor visual acuity; impairment of color vision; funduscopic evidence of atrophic macular degeneration; peripheral disturbances including pigment clumping, pigment epithelial thinning, or both; and greater or earlier loss of cone rather than rod ERG amplitude." "4y" "" "initial reports of blurred central vision without a history of night blindness" "" "" "" "" "" "" "" ""
"0000057331" "00058" "00077556" "01695" "Unknown" "" "cone-rod dystrophy (HP:0000510); Poor visual acuity; impairment of color vision; funduscopic evidence of atrophic macular degeneration; peripheral disturbances including pigment clumping, pigment epithelial thinning, or both; and greater or earlier loss of cone rather than rod ERG amplitude." "6y" "" "initial reports of blurred central vision without a history of night blindness" "" "" "" "" "" "" "" ""
"0000057332" "00058" "00077557" "01695" "Unknown" "" "cone-rod dystrophy (HP:0000510); Poor visual acuity; impairment of color vision; funduscopic evidence of atrophic macular degeneration; peripheral disturbances including pigment clumping, pigment epithelial thinning, or both; and greater or earlier loss of cone rather than rod ERG amplitude." "8y" "" "initial reports of blurred central vision without a history of night blindness" "" "" "" "" "" "" "" ""
"0000057333" "00058" "00077558" "01695" "Unknown" "" "cone-rod dystrophy (HP:0000510); Poor visual acuity; impairment of color vision; funduscopic evidence of atrophic macular degeneration; peripheral disturbances including pigment clumping, pigment epithelial thinning, or both; and greater or earlier loss of cone rather than rod ERG amplitude." "9y" "" "initial reports of blurred central vision without a history of night blindness" "" "" "" "" "" "" "" ""
"0000057334" "00058" "00077559" "01695" "Unknown" "" "cone-rod dystrophy (HP:0000510); Poor visual acuity; impairment of color vision; funduscopic evidence of atrophic macular degeneration; peripheral disturbances including pigment clumping, pigment epithelial thinning, or both; and greater or earlier loss of cone rather than rod ERG amplitude." "10y" "" "initial reports of blurred central vision without a history of night blindness" "" "" "" "" "" "" "" ""
"0000057335" "00058" "00077560" "01695" "Unknown" "" "cone-rod dystrophy (HP:0000510); Poor visual acuity; impairment of color vision; funduscopic evidence of atrophic macular degeneration; peripheral disturbances including pigment clumping, pigment epithelial thinning, or both; and greater or earlier loss of cone rather than rod ERG amplitude." "12y" "" "initial reports of blurred central vision without a history of night blindness" "" "" "" "" "" "" "" ""
"0000057336" "00058" "00077561" "01695" "Unknown" "" "cone-rod dystrophy (HP:0000510); Poor visual acuity; impairment of color vision; funduscopic evidence of atrophic macular degeneration; peripheral disturbances including pigment clumping, pigment epithelial thinning, or both; and greater or earlier loss of cone rather than rod ERG amplitude." "22y" "" "initial reports of blurred central vision without a history of night blindness" "" "" "" "" "" "" "" ""
"0000057337" "00058" "00077562" "01695" "Unknown" "" "cone-rod dystrophy (HP:0000510); Poor visual acuity; impairment of color vision; funduscopic evidence of atrophic macular degeneration; peripheral disturbances including pigment clumping, pigment epithelial thinning, or both; and greater or earlier loss of cone rather than rod ERG amplitude." "59y" "" "initial reports of blurred central vision without a history of night blindness" "" "" "" "" "" "" "" ""
"0000057338" "00058" "00077563" "01695" "Unknown" "" "cone-rod dystrophy (HP:0000510); Poor visual acuity; impairment of color vision; funduscopic evidence of atrophic macular degeneration; peripheral disturbances including pigment clumping, pigment epithelial thinning, or both; and greater or earlier loss of cone rather than rod ERG amplitude." "24y" "" "initial reports of blurred central vision without a history of night blindness" "" "" "" "" "" "" "" ""
"0000057339" "00420" "00077564" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "12y" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000057340" "00420" "00077565" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "21y" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000057341" "00420" "00077566" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "40y" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000057342" "00420" "00077567" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "7y" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000057343" "00420" "00077568" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "7y" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000057344" "00420" "00077569" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "8y" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000057345" "00420" "00077570" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "9y" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000057346" "00420" "00077571" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "10y" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000057347" "00420" "00077572" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "10y" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000057348" "00420" "00077573" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "10y" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000057349" "00420" "00077574" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "12y" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000057350" "00420" "00077575" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "12y" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000057351" "00420" "00077576" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "12y" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000057352" "00420" "00077577" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "13y" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000057353" "00420" "00077578" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "13y" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000057354" "00420" "00077579" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "14y" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000057355" "00420" "00077580" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "14y" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000057356" "00420" "00077581" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "14y" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000057357" "00420" "00077582" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "14y" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000057358" "00420" "00077583" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "15y" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000057359" "00420" "00077584" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "15y" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000057360" "00420" "00077585" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "15y" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000057361" "00420" "00077586" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "15y" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000057362" "00420" "00077587" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "16y" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000057363" "00420" "00077588" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "16y" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000057364" "00420" "00077589" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "16y" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000057365" "00420" "00077590" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "17y" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000057366" "00420" "00077591" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "17y" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000057367" "00420" "00077592" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "17y" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000057368" "00420" "00077593" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "18y" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000057369" "00420" "00077594" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "18y" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000057370" "00420" "00077595" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "18y" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000057371" "00420" "00077596" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "19y" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000057372" "00420" "00077597" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "19y" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000057373" "00420" "00077598" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "19y" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000057374" "00420" "00077599" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "20y" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000057375" "00420" "00077600" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "21y" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000057376" "00420" "00077601" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "22y" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000057377" "00420" "00077602" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "22y" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000057378" "00420" "00077603" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "23y" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000057379" "00420" "00077604" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "24y" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000057380" "00420" "00077605" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "25y" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000057381" "00420" "00077606" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "25y" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000057382" "00420" "00077607" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "28y" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000057383" "00420" "00077608" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "36y" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000057384" "00420" "00077609" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "37y" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000057385" "00420" "00077610" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000057386" "00420" "00077611" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000057387" "00420" "00077612" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000057388" "00420" "00077613" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000057389" "00420" "00077614" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000057390" "00420" "00077615" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "5y" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000057391" "00420" "00077616" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "8y" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000057392" "00420" "00077617" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "8y" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000057393" "00420" "00077618" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "11y" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000057394" "00420" "00077619" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "11y" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000057395" "00420" "00077620" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "12y" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000057396" "00420" "00077621" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "13y" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000057397" "00420" "00077622" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "18y" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000057398" "00420" "00077623" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "38y" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000057399" "00420" "00077624" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000057400" "00420" "00077625" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "4y" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000057401" "00420" "00077626" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "4y" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000057402" "00420" "00077627" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "6y" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000057403" "00420" "00077628" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "6y" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000057404" "00420" "00077629" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "6y" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000057405" "00420" "00077630" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "6y" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000057406" "00420" "00077631" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "7y" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000057407" "00420" "00077632" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "7y" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000057408" "00420" "00077633" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "8y" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000057409" "00420" "00077634" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "9y" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000057410" "00420" "00077635" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "9y" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000057411" "00420" "00077636" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "9y" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000057412" "00420" "00077637" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "9y" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000057413" "00420" "00077638" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "10y" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000057414" "00420" "00077639" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "10y" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000057415" "00420" "00077640" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "10y" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000057416" "00420" "00077641" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "11y" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000057417" "00420" "00077642" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "11y" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000057418" "00420" "00077643" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "11y" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000057419" "00420" "00077644" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "11y" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000057420" "00420" "00077645" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "12y" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000057421" "00420" "00077646" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "12y" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000057422" "00420" "00077647" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "12y" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000057423" "00420" "00077648" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "12y" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000057424" "00420" "00077649" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "13y" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000057425" "00420" "00077650" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "13y" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000057426" "00420" "00077651" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "14y" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000057427" "00420" "00077652" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "14y" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000057428" "00420" "00077653" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "14y" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000057429" "00420" "00077654" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "15y" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000057430" "00420" "00077655" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "15y" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000057431" "00420" "00077656" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "15y" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000057432" "00420" "00077657" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "15y" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000057433" "00420" "00077658" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "16y" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000057434" "00420" "00077659" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "16y" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000057435" "00420" "00077660" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "16y" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000057436" "00420" "00077661" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "17y" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000057437" "00420" "00077662" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "17y" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000057438" "00420" "00077663" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "17y" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000057439" "00420" "00077664" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "17y" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000057440" "00420" "00077665" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "18y" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000057441" "00420" "00077666" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "18y" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000057442" "00420" "00077667" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "20y" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000057443" "00420" "00077668" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "20y" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000057444" "00420" "00077669" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "21y" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000057445" "00420" "00077670" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "22y" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000057446" "00420" "00077671" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "23y" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000057447" "00420" "00077672" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "24y" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000057448" "00420" "00077673" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "24y" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000057449" "00420" "00077674" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "27y" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000057450" "00420" "00077675" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "28y" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000057451" "00420" "00077676" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "28y" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000057452" "00420" "00077677" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "28y" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000057453" "00420" "00077678" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "33y" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000057454" "00420" "00077679" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "33y" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000057455" "00420" "00077680" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "35y" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000057456" "00420" "00077681" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "37y" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000057457" "00420" "00077682" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "38y" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000057458" "00420" "00077683" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "39y" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000057459" "00420" "00077684" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "54y" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000057460" "00420" "00077685" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000057461" "00420" "00077686" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000057462" "00420" "00077687" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000057463" "00420" "00077688" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000057464" "00420" "00077689" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000057465" "00420" "00077690" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000057466" "00420" "00077691" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000057467" "00420" "00077692" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000057468" "00420" "00077693" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000057469" "00420" "00077694" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000057470" "00420" "00077695" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000057471" "00420" "00077696" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000057472" "00420" "00077697" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000057473" "00420" "00077698" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000057474" "00420" "00077699" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000057475" "00420" "00077700" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000057476" "00420" "00077701" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000057477" "00420" "00077702" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000057478" "00420" "00077703" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000057479" "00420" "00077704" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000057480" "00420" "00077705" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000057481" "00420" "00077706" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000057482" "00420" "00077707" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000057483" "00420" "00077708" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000057484" "00420" "00077709" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000057485" "00420" "00077710" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000057486" "00420" "00077711" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000057487" "00420" "00077712" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000057488" "00420" "00077713" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000057489" "00420" "00077714" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000057490" "00420" "00077715" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000057491" "00420" "00077716" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000057492" "00420" "00077717" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000057493" "00420" "00077718" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000057494" "00420" "00077719" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000057495" "00420" "00077720" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000057496" "00420" "00077721" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000057497" "00420" "00077722" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000057498" "00420" "00077723" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000057499" "00420" "00077724" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000057500" "00420" "00077725" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000057501" "00420" "00077726" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000057502" "00420" "00077727" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000057503" "00420" "00077728" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000057504" "00420" "00077729" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000057505" "00420" "00077730" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000057506" "00420" "00077731" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000057507" "00420" "00077732" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000057508" "00420" "00077733" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000057509" "00420" "00077734" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000057510" "00420" "00077735" "01695" "Unknown" "" "Stargardt disease; Bilateral central vision loss; fundus presenting with a beaten-bronze appearance, the presence of orange-yellow flecks in the retina from the posterior pole to the mid periphery, or both; fluorescein angiography showing typical dark choroid; and normal to subnormal electroretinography (ERG) results." "" "" "any symptom of visual impairment" "" "" "" "" "" "" "" ""
"0000057511" "00198" "00077736" "01695" "Familial" "" "ABCA4-related retinal disease; y33: visual acuity OD 1.0 (LogMAR), OS 1.0 (LogMAR), atrophic-appearing foveal/macular lesion and numerous yellowish-white deposits throughout the posterior pole, extending anteriorly to the vascular arcades and nasally to the optic disc, a localized low AF signal at the macula surrounded by a heterogeneous background and widespread foci of a high or low AF signal extending anterior to the vascular arcades." "11y" "" "visual loss or the age at the latest examination for patients who were asymptomatic" "" "" "" "" "" "" "" ""
"0000057512" "00198" "00077737" "01695" "Familial" "" "ABCA4-related retinal disease; y36: visual acuity OD 1.0(LogMAR), OS 1.0(LogMAR), atrophic-appearing foveal/macular lesion and numerous yellowish-white deposits throughout the posterior pole, extending anteriorly to the vascular arcades and nasally to the optic disc, a localized low AF signal at the macula surrounded by a heterogeneous background and widespread foci of a high or low AF signal extending anterior to the vascular arcades." "11y" "" "visual loss or the age at the latest examination for patients who were asymptomatic" "" "" "" "" "" "" "" ""
"0000057513" "00198" "00077738" "01695" "Isolated (sporadic)" "" "ABCA4-related retinal disease; y8: visual acuity OD 1.2(LogMAR), OS 1.2(LogMAR), atrophic-appearing foveal/macular lesion and numerous yellowish-white deposits throughout the posterior pole, extending anteriorly to the vascular arcades and nasally to the optic disc, a localized low AF signal at the macula surrounded by a heterogeneous background and widespread foci of a high or low AF signal extending anterior to the vascular arcades." "3y" "" "visual loss or the age at the latest examination for patients who were asymptomatic" "" "" "" "" "" "" "" ""
"0000057514" "00198" "00077739" "01695" "Isolated (sporadic)" "" "ABCA4-related retinal disease; y8: visual acuity OD 1.0(LogMAR), OS 1.0(LogMAR), atrophic-appearing foveal/macular lesion and numerous yellowish-white deposits throughout the posterior pole, extending anteriorly to the vascular arcades and nasally to the optic disc, a localized low AF signal at the macula surrounded by a heterogeneous background and widespread foci of a high or low AF signal extending anterior to the vascular arcades." "5y" "" "visual loss or the age at the latest examination for patients who were asymptomatic" "" "" "" "" "" "" "" ""
"0000057515" "00198" "00077740" "01695" "Isolated (sporadic)" "" "ABCA4-related retinal disease; y25: visual acuity OD 1.0(LogMAR), OS 1.08(LogMAR), atrophic-appearing foveal/macular lesion and numerous yellowish-white deposits throughout the posterior pole, extending anteriorly to the vascular arcades and nasally to the optic disc, a localized low AF signal at the macula surrounded by a heterogeneous background and widespread foci of a high or low AF signal extending anterior to the vascular arcades." "10y" "" "visual loss or the age at the latest examination for patients who were asymptomatic" "" "" "" "" "" "" "" ""
"0000057516" "00198" "00077741" "01695" "Isolated (sporadic)" "" "ABCA4-related retinal disease; y30: visual acuity OD 1.0(LogMAR), OS 1.0(LogMAR), atrophic-appearing foveal/macular lesion and numerous yellowish-white deposits throughout the posterior pole, extending anteriorly to the vascular arcades and nasally to the optic disc, a localized low AF signal at the macula surrounded by a heterogeneous background and widespread foci of a high or low AF signal extending anterior to the vascular arcades." "10y" "" "visual loss or the age at the latest examination for patients who were asymptomatic" "" "" "" "" "" "" "" ""
"0000057517" "00198" "00077742" "01695" "Isolated (sporadic)" "" "ABCA4-related retinal disease; y22: visual acuity OD 2.0(LogMAR), OS 1.0(LogMAR), atrophic-appearing foveal/macular lesion and numerous yellowish-white deposits throughout the posterior pole, extending anteriorly to the vascular arcades and nasally to the optic disc, a localized low AF signal at the macula surrounded by a heterogeneous background and widespread foci of a high or low AF signal extending anterior to the vascular arcades." "10y" "" "visual loss or the age at the latest examination for patients who were asymptomatic" "" "" "" "" "" "" "" ""
"0000057518" "00198" "00077743" "01695" "Isolated (sporadic)" "" "ABCA4-related retinal disease; y36: visual acuity OD 1.08(LogMAR), OS 2.0(LogMAR), extensive atrophic-appearing changes of the retinal pigment epithelium (RPE) throughout the posterior pole, extending beyond the vascular arcades, multiple areas of low AF signal at the posterior pole with a heterogeneous background with or without foci of a high or low AF signal." "30y" "" "visual loss or the age at the latest examination for patients who were asymptomatic" "" "" "" "" "" "" "" ""
"0000057519" "00198" "00077744" "01695" "Familial" "" "ABCA4-related retinal disease; y27: visual acuity OD 1.78(LogMAR), OS 2.0(LogMAR), atrophic-appearing foveal lesion(s) with or without perifoveal yellowish-white deposits, a localized low AF signal at the macula surrounded by a heterogeneous background and widespread foci of a high or low AF signal extending anterior to the vascular arcades." "19y" "" "visual loss or the age at the latest examination for patients who were asymptomatic" "" "" "" "" "" "" "" ""
"0000057520" "00198" "00077745" "01695" "Familial" "" "ABCA4-related retinal disease; y34: visual acuity OD 0.48(LogMAR), OS 0.48(LogMAR), atrophic-appearing foveal lesion(s) with or without perifoveal yellowish-white deposits, a localized low AF signal at the macula surrounded by a heterogeneous background and widespread foci of a high or low AF signal extending anterior to the vascular arcades." "30y" "" "visual loss or the age at the latest examination for patients who were asymptomatic" "" "" "" "" "" "" "" ""
"0000057521" "00198" "00077746" "01695" "Isolated (sporadic)" "" "ABCA4-related retinal disease; y26: visual acuity OD 0.78(LogMAR), OS 0.78(LogMAR), atrophic-appearing foveal lesion(s) with or without perifoveal yellowish-white deposits, a localized low AF signal at the fovea surrounded by a homogeneous background with or without perifoveal foci of high or low signal." "17y" "" "visual loss or the age at the latest examination for patients who were asymptomatic" "" "" "" "" "" "" "" ""
"0000057522" "00198" "00077747" "01695" "Isolated (sporadic)" "" "ABCA4-related retinal disease; y44: visual acuity OD 0.18(LogMAR), OS 0.0(LogMAR), atrophic-appearing foveal/macular lesion and numerous yellowish-white deposits throughout the posterior pole, extending anteriorly to the vascular arcades and nasally to the optic disc, a localized low AF signal at the macula surrounded by a heterogeneous background and widespread foci of a high or low AF signal extending anterior to the vascular arcades." "44y" "" "visual loss or the age at the latest examination for patients who were asymptomatic" "" "" "" "" "" "" "" ""
"0000057523" "00198" "00077748" "01695" "Isolated (sporadic)" "" "ABCA4-related retinal disease; y11: visual acuity OD 1.3(LogMAR), OS 1.0(LogMAR), extensive atrophic-appearing changes of the retinal pigment epithelium (RPE) throughout the posterior pole, extending beyond the vascular arcades, a localized low AF signal at the macula surrounded by a heterogeneous background and widespread foci of a high or low AF signal extending anterior to the vascular arcades." "5y" "" "visual loss or the age at the latest examination for patients who were asymptomatic" "" "" "" "" "" "" "" ""
"0000057524" "00198" "00077749" "01695" "Isolated (sporadic)" "" "ABCA4-related retinal disease; y11: visual acuity OD 1.0(LogMAR), OS 1.0(LogMAR), atrophic-appearing foveal/macular lesion and numerous yellowish-white deposits throughout the posterior pole, extending anteriorly to the vascular arcades and nasally to the optic disc, a localized low AF signal at the macula surrounded by a heterogeneous background and widespread foci of a high or low AF signal extending anterior to the vascular arcades." "8y" "" "visual loss or the age at the latest examination for patients who were asymptomatic" "" "" "" "" "" "" "" ""
"0000057525" "00198" "00077750" "01695" "Isolated (sporadic)" "" "ABCA4-related retinal disease; y48: visual acuity OD 3.0(LogMAR), OS 3.0(LogMAR), extensive atrophic-appearing changes of the retinal pigment epithelium (RPE) throughout the posterior pole, extending beyond the vascular arcades." "9y" "" "visual loss or the age at the latest examination for patients who were asymptomatic" "" "" "" "" "" "" "" ""
"0000057526" "00198" "00077751" "01695" "Familial" "" "ABCA4-related retinal disease; y7: visual acuity OD 1.08(LogMAR), OS 1.08(LogMAR), atrophic-appearing foveal lesion(s) with or without perifoveal yellowish-white deposits." "4y" "" "visual loss or the age at the latest examination for patients who were asymptomatic" "" "" "" "" "" "" "" ""
"0000057527" "00198" "00077752" "01695" "Familial" "" "ABCA4-related retinal disease; y8: visual acuity OD 1.08(LogMAR), OS 1.0(LogMAR), atrophic-appearing foveal lesion(s) with or without perifoveal yellowish-white deposits." "6y" "" "visual loss or the age at the latest examination for patients who were asymptomatic" "" "" "" "" "" "" "" ""
"0000057528" "00198" "00077753" "01695" "Familial" "" "ABCA4-related retinal disease; y25: visual acuity OD 1.78(LogMAR), OS 1.78(LogMAR), extensive atrophic-appearing changes of the retinal pigment epithelium (RPE) throughout the posterior pole, extending beyond the vascular arcades." "17y" "" "visual loss or the age at the latest examination for patients who were asymptomatic" "" "" "" "" "" "" "" ""
"0000057529" "00058" "00077754" "01695" "Isolated (sporadic)" "" "cone-rod dystrophy (HP:0000510); y7: Visual acuity OD 0.20, OS 0.15, macular atrophy, temporal pallor of optic disc, attenuated retinal arteries." "6y" "" "poor vision, photophobia" "" "" "" "" "" "" "" ""
"0000057530" "00420" "00077755" "01695" "Unknown" "" "Stargardt disease; y52: Visual acuity 1.00/1.30 (OD/OS), central, atrophic appearing macular lesion with or without perifoveal flecks, decreased photopic but healthy scotopic ERGs." "19y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057531" "00420" "00077756" "01695" "Unknown" "" "Stargardt disease; y32: Visual acuity 1.30/1.00 (OD/OS), central, atrophic appearing macular lesion with or without perifoveal flecks, normal ERG." "9y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057532" "00420" "00077757" "01695" "Unknown" "" "Stargardt disease; y29: Visual acuity 1.30/1.00 (OD/OS), central, atrophic appearing macular lesion with or without perifoveal flecks, normal ERG." "16y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057533" "00420" "00077758" "01695" "Unknown" "" "Stargardt disease; y32: Visual acuity 1.00/1.00 (OD/OS), central, atrophic appearing macular lesion with or without perifoveal flecks, normal ERG." "20y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057534" "00420" "00077759" "01695" "Unknown" "" "Stargardt disease; y28: Visual acuity 0.52/0.70 (OD/OS), central, atrophic appearing macular lesion with or without perifoveal flecks, normal ERG." "21y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057535" "00420" "00077760" "01695" "Unknown" "" "Stargardt disease; y25: Visual acuity 1.00/0.80 (OD/OS), central, atrophic appearing macular lesion with or without perifoveal flecks, normal ERG." "20y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057536" "00420" "00077761" "01695" "Unknown" "" "Stargardt disease; y32: Visual acuity 0.05/0.10 (OD/OS), more numerous flecks, extending anterior to the vascular arcades and nasal to the optic disc, normal ERG." "27y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057537" "00420" "00077762" "01695" "Unknown" "" "Stargardt disease; y42: Visual acuity 1.00/1.00 (OD/OS), more numerous flecks, extending anterior to the vascular arcades and nasal to the optic disc, normal ERG." "17y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057538" "00420" "00077763" "01695" "Unknown" "" "Stargardt disease; y23: Visual acuity 0.00/0.00 (OD/OS), more numerous flecks, extending anterior to the vascular arcades and nasal to the optic disc, normal ERG." "23y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057539" "00420" "00077764" "01695" "Unknown" "" "Stargardt disease; y30: Visual acuity 1.00/1.00 (OD/OS), more numerous flecks, extending anterior to the vascular arcades and nasal to the optic disc, normal ERG." "16y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057540" "00420" "00077765" "01695" "Unknown" "" "Stargardt disease; y45: Visual acuity 1.30/1.30 (OD/OS), extensive atrophic-appearing RPE changes and partially resorbed flecks, decreased photopic but healthy scotopic ERGs." "19y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057541" "00420" "00077766" "01695" "Unknown" "" "Stargardt disease; y37: Visual acuity 1.00/1.00 (OD/OS), extensive atrophic-appearing RPE changes and partially resorbed flecks, decreased photopic but healthy scotopic ERGs." "14y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057542" "00420" "00077767" "01695" "Unknown" "" "Stargardt disease; y27: Visual acuity 1.00/1.00 (OD/OS), extensive atrophic-appearing RPE changes and partially resorbed flecks, decreased photopic but healthy scotopic ERGs." "20y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057543" "00420" "00077768" "01695" "Unknown" "" "Stargardt disease; y41: Visual acuity 2.00/2.00 (OD/OS), extensive atrophic-appearing RPE changes and partially resorbed flecks, ecreased scotopic and photopic ERGs." "14y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057544" "00420" "00077769" "01695" "Unknown" "" "Stargardt disease; y44: visual acuity OD 6/12, OS 6/6, pigment mottling in both maculae and ‘fish-tail’-like retinal flecks with a central distribution mainly in the right eye, central relative scotoma in the right eye, a characteristic ‘dark choroid’ in the right eye and a patchy pattern of choroidal hyperfluorescence in the left eye." "44y" "" "gradual, relatively recent decreased visual acuity" "" "" "" "" "" "" "" ""
"0000057545" "00420" "00077770" "01695" "Unknown" "" "Stargardt disease; y29: visual acuity OD 6/6, OS 6/6, PERG responses were diminished in both eyes." "29y" "" "vague description of visual problems, mainly complaining of a decreased ability to focus while reading and a recently increasing difficulty to adapt in the dark" "" "" "" "" "" "" "" ""
"0000057546" "00420" "00077771" "01695" "Unknown" "" "Stargardt disease; y34: visual acuity OD 6/60, OS 6/60, bilateral atrophic lesions of themacula accompanied by yellow-white stellate flecks at the level of the retinal pigment epithelium. Atrophic lesions and flecks were also extending to the midperiphery of both retinae. Visual fields revealed a bilateral absolute central scotoma and relative paracentral scotomas as well in both eyes. PERG was significantly reduced, while scotopic and photopic amplitudes were also lower than normal." "33y" "" "bilateral markedly decreased vision" "" "" "" "" "" "" "" ""
"0000057547" "00420" "00077772" "01695" "Unknown" "" "Stargardt disease; y34: visual acuity OD 6/36, OS 6/36." "26y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057548" "00420" "00077773" "01695" "Unknown" "" "Stargardt disease; y55: visual acuity OD 3/60, OS 3/60." "33y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057549" "00420" "00077774" "01695" "Unknown" "" "Stargardt disease; y30: visual acuity OD 6/60, OS 6/60." "26y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057550" "00420" "00077775" "01695" "Unknown" "" "Stargardt disease; y44: visual acuity OD 6/60, OS 6/9." "34y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057551" "00420" "00077776" "01695" "Unknown" "" "Stargardt disease; y45: Visual acuity OD 0 logMAR, OS 0 logMAR, mottled retinal pigment epithelial changes and/or localized parafoveal yellow-white flecks, ERG was not available." "45y" "" "visual loss or the latest examination for asymptomatic patients." "" "" "" "" "" "" "" ""
"0000057552" "00420" "00077777" "01695" "Unknown" "" "Stargardt disease; y33: Visual acuity OD 0.18 logMAR, OS 0.48 logMAR, patchy parafoveal atrophy surrounded by numerous yellow-white flecks, PERG P50 abnormality and additional generalized cone and rod system abnormality." "33y" "" "visual loss or the latest examination for asymptomatic patients." "" "" "" "" "" "" "" ""
"0000057553" "00420" "00077778" "01695" "Unknown" "" "Stargardt disease; y66: Visual acuity OD 0.18 logMAR, OS 0.18 logMAR, patchy parafoveal atrophy surrounded by numerous yellow-white flecks, PERG P50 abnormality and additional generalized cone system abnormality." "53y" "" "visual loss or the latest examination for asymptomatic patients." "" "" "" "" "" "" "" ""
"0000057554" "00420" "00077779" "01695" "Unknown" "" "Stargardt disease; y54: Visual acuity OD 1.48 logMAR, OS 0.18 logMAR, patchy parafoveal atrophy surrounded by numerous yellow-white flecks, PERG P50 abnormality and additional generalized cone and rod system abnormality." "37y" "" "visual loss or the latest examination for asymptomatic patients." "" "" "" "" "" "" "" ""
"0000057555" "00420" "00077780" "01695" "Unknown" "" "Stargardt disease; y57: Visual acuity OD 0.3 logMAR, OS 0.18 logMAR, patchy parafoveal atrophy surrounded by numerous yellow-white flecks, normal ERGs with or without PERG P50 abnormality." "57y" "" "visual loss or the latest examination for asymptomatic patients." "" "" "" "" "" "" "" ""
"0000057556" "00420" "00077781" "01695" "Unknown" "" "Stargardt disease; y65: Visual acuity OD 0.18 logMAR, OS 0 logMAR, patchy parafoveal atrophy surrounded by numerous yellow-white flecks, normal ERGs with or without PERG P50 abnormality." "65y" "" "visual loss or the latest examination for asymptomatic patients." "" "" "" "" "" "" "" ""
"0000057557" "00420" "00077782" "01695" "Unknown" "" "Stargardt disease; y54: Visual acuity OD 0 logMAR, OS 0 logMAR, patchy parafoveal atrophy surrounded by numerous yellow-white flecks, normal ERGs with or without PERG P50 abnormality." "54y" "" "visual loss or the latest examination for asymptomatic patients." "" "" "" "" "" "" "" ""
"0000057558" "00420" "00077783" "01695" "Unknown" "" "Stargardt disease; y44: Visual acuity OD -0.1 logMAR, OS -0.1 logMAR, multiple patchy atrophic lesions, extending beyond the arcades, PERG P50 abnormality and additional generalized cone and rod system abnormality." "39y" "" "visual loss or the latest examination for asymptomatic patients." "" "" "" "" "" "" "" ""
"0000057559" "00420" "00077784" "01695" "Unknown" "" "Stargardt disease; y35: Visual acuity OD 0.18 logMAR, OS 0.18 logMAR, numerous yellow-white flecks at the posterior pole without atrophy, PERG P50 abnormality and additional generalized cone and rod system abnormality." "35y" "" "visual loss or the latest examination for asymptomatic patients." "" "" "" "" "" "" "" ""
"0000057560" "00420" "00077785" "01695" "Unknown" "" "Stargardt disease; y54: Visual acuity OD 0.48 logMAR, OS 0.18 logMAR, patchy parafoveal atrophy surrounded by numerous yellow-white flecks, PERG P50 abnormality and additional generalized cone and rod system abnormality." "45y" "" "visual loss or the latest examination for asymptomatic patients." "" "" "" "" "" "" "" ""
"0000057561" "00420" "00077786" "01695" "Unknown" "" "Stargardt disease; y43: Visual acuity OD -0.1 logMAR, OS 0 logMAR, numerous yellow-white flecks at the posterior pole without atrophy, normal ERGs with or without PERG P50 abnormality." "43y" "" "visual loss or the latest examination for asymptomatic patients." "" "" "" "" "" "" "" ""
"0000057562" "00420" "00077787" "01695" "Unknown" "" "Stargardt disease; y38: Visual acuity OD 0.3 logMAR, OS 0 logMAR, patchy parafoveal atrophy surrounded by numerous yellow-white flecks, normal ERGs with or without PERG P50 abnormality." "36y" "" "visual loss or the latest examination for asymptomatic patients." "" "" "" "" "" "" "" ""
"0000057563" "00420" "00077788" "01695" "Unknown" "" "Stargardt disease; y68: Visual acuity OD -0.1 logMAR, OS 0.48 logMAR, patchy parafoveal atrophy surrounded by numerous yellow-white flecks, normal ERGs with or without PERG P50 abnormality." "62y" "" "visual loss or the latest examination for asymptomatic patients." "" "" "" "" "" "" "" ""
"0000057564" "00420" "00077789" "01695" "Unknown" "" "Stargardt disease; y44: Visual acuity OD 0.48 logMAR, OS 0.48 logMAR, mottled retinal pigment epithelial changes and/or localized parafoveal yellow-white flecks, normal ERGs with or without PERG P50 abnormality." "36y" "" "visual loss or the latest examination for asymptomatic patients." "" "" "" "" "" "" "" ""
"0000057565" "00420" "00077790" "01695" "Unknown" "" "Stargardt disease; y46: Visual acuity OD -0.1 logMAR, OS -0.1 logMAR, mottled retinal pigment epithelial changes and/or localized parafoveal yellow-white flecks, normal ERGs with or without PERG P50 abnormality." "46y" "" "visual loss or the latest examination for asymptomatic patients." "" "" "" "" "" "" "" ""
"0000057566" "00420" "00077791" "01695" "Unknown" "" "Stargardt disease; y44: Visual acuity OD 0.18 logMAR, OS 0 logMAR, numerous yellow-white flecks at the posterior pole without atrophy, normal ERGs with or without PERG P50 abnormality." "44y" "" "visual loss or the latest examination for asymptomatic patients." "" "" "" "" "" "" "" ""
"0000057567" "00420" "00077792" "01695" "Unknown" "" "Stargardt disease; y73: Visual acuity OD 0.18 logMAR, OS 3 logMAR, multiple patchy atrophic lesions, extending beyond the arcades, PERG P50 abnormality and additional generalized cone system abnormality." "48y" "" "visual loss or the latest examination for asymptomatic patients." "" "" "" "" "" "" "" ""
"0000057568" "00420" "00077793" "01695" "Unknown" "" "Stargardt disease; y57: Visual acuity OD 0 logMAR, OS 0 logMAR, numerous yellow-white flecks at the posterior pole without atrophy, normal ERGs with or without PERG P50 abnormality." "56y" "" "visual loss or the latest examination for asymptomatic patients." "" "" "" "" "" "" "" ""
"0000057569" "00420" "00077794" "01695" "Unknown" "" "Stargardt disease; y53: Visual acuity OD 0.48 logMAR, OS 0.18 logMAR, patchy parafoveal atrophy surrounded by numerous yellow-white flecks, normal ERGs with or without PERG P50 abnormality." "53y" "" "visual loss or the latest examination for asymptomatic patients." "" "" "" "" "" "" "" ""
"0000057570" "00420" "00077795" "01695" "Unknown" "" "Stargardt disease; y58: Visual acuity OD 0.18 logMAR, OS 0 logMAR, patchy parafoveal atrophy surrounded by numerous yellow-white flecks, normal ERGs with or without PERG P50 abnormality." "49y" "" "visual loss or the latest examination for asymptomatic patients." "" "" "" "" "" "" "" ""
"0000057571" "00420" "00077796" "01695" "Unknown" "" "Stargardt disease; y47: Visual acuity OD 0.3 logMAR, OS 0.3 logMAR, patchy parafoveal atrophy surrounded by numerous yellow-white flecks, normal ERGs with or without PERG P50 abnormality." "47y" "" "visual loss or the latest examination for asymptomatic patients." "" "" "" "" "" "" "" ""
"0000057572" "00420" "00077797" "01695" "Unknown" "" "Stargardt disease; y50: Visual acuity OD 0.48 logMAR, OS 0.18 logMAR, patchy parafoveal atrophy surrounded by numerous yellow-white flecks, normal ERGs with or without PERG P50 abnormality." "50y" "" "visual loss or the latest examination for asymptomatic patients." "" "" "" "" "" "" "" ""
"0000057573" "00420" "00077798" "01695" "Unknown" "" "Stargardt disease; y39: Visual acuity OD 0 logMAR, OS -0.1 logMAR, numerous yellow-white flecks at the posterior pole without atrophy, normal ERGs with or without PERG P50 abnormality." "39y" "" "visual loss or the latest examination for asymptomatic patients." "" "" "" "" "" "" "" ""
"0000057574" "00420" "00077799" "01695" "Unknown" "" "Stargardt disease; y57: Visual acuity OD 0.48 logMAR, OS 0.48 logMAR, patchy parafoveal atrophy surrounded by numerous yellow-white flecks, normal ERGs with or without PERG P50 abnormality." "55y" "" "visual loss or the latest examination for asymptomatic patients." "" "" "" "" "" "" "" ""
"0000057575" "00420" "00077800" "01695" "Unknown" "" "Stargardt disease; y54: Visual acuity OD 0.48 logMAR, OS 0.18 logMAR, patchy parafoveal atrophy surrounded by numerous yellow-white flecks, PERG P50 abnormality and additional generalized cone and rod system abnormality." "50y" "" "visual loss or the latest examination for asymptomatic patients." "" "" "" "" "" "" "" ""
"0000057576" "00420" "00077801" "01695" "Unknown" "" "Stargardt disease; y47: Visual acuity OD 2 logMAR, OS 0.18 logMAR, patchy parafoveal atrophy surrounded by numerous yellow-white flecks, normal ERGs with or without PERG P50 abnormality." "43y" "" "visual loss or the latest examination for asymptomatic patients." "" "" "" "" "" "" "" ""
"0000057577" "00420" "00077802" "01695" "Unknown" "" "Stargardt disease; y51: Visual acuity OD 0.3 logMAR, OS 0.3 logMAR, patchy parafoveal atrophy surrounded by numerous yellow-white flecks, PERG P50 abnormality and additional generalized cone and rod system abnormality." "30y" "" "visual loss or the latest examination for asymptomatic patients." "" "" "" "" "" "" "" ""
"0000057578" "00420" "00077803" "01695" "Unknown" "" "Stargardt disease; y34: Visual acuity OD 0.18 logMAR, OS 0.18 logMAR, mottled retinal pigment epithelial changes and/or localized parafoveal yellow-white flecks, normal ERGs with or without PERG P50 abnormality." "29y" "" "visual loss or the latest examination for asymptomatic patients." "" "" "" "" "" "" "" ""
"0000057579" "00420" "00077804" "01695" "Unknown" "" "Stargardt disease; y52: Visual acuity OD 0.18 logMAR, OS 0.18 logMAR, mottled retinal pigment epithelial changes and/or localized parafoveal yellow-white flecks, normal ERGs with or without PERG P50 abnormality." "52y" "" "visual loss or the latest examination for asymptomatic patients." "" "" "" "" "" "" "" ""
"0000057580" "00420" "00077805" "01695" "Unknown" "" "Stargardt disease; y28: Visual acuity OD -0.1 logMAR, OS -0.1 logMAR, numerous yellow-white flecks at the posterior pole without atrophy, normal ERGs with or without PERG P50 abnormality." "28y" "" "visual loss or the latest examination for asymptomatic patients." "" "" "" "" "" "" "" ""
"0000057581" "00420" "00077806" "01695" "Unknown" "" "Stargardt disease; y40: Visual acuity OD -0.1 logMAR, OS -0.1 logMAR, numerous yellow-white flecks at the posterior pole without atrophy, ERG was not available." "40y" "" "visual loss or the latest examination for asymptomatic patients." "" "" "" "" "" "" "" ""
"0000057582" "00198" "00077807" "01695" "Unknown" "" "ABCA4-related retinal disease; At least localized low AF signal at the fovea surrounded by a homogeneous background" "<71y" "" "visual loss" "" "" "" "" "" "" "" ""
"0000057583" "00198" "00077808" "01695" "Unknown" "" "ABCA4-related retinal disease; At least localized low AF signal at the fovea surrounded by a homogeneous background" "<71y" "" "visual loss" "" "" "" "" "" "" "" ""
"0000057584" "00198" "00077809" "01695" "Unknown" "" "ABCA4-related retinal disease; At least localized low AF signal at the fovea surrounded by a homogeneous background" "<71y" "" "visual loss" "" "" "" "" "" "" "" ""
"0000057585" "00198" "00077810" "01695" "Unknown" "" "ABCA4-related retinal disease; At least localized low AF signal at the fovea surrounded by a homogeneous background" "<71y" "" "visual loss" "" "" "" "" "" "" "" ""
"0000057586" "00198" "00077811" "01695" "Unknown" "" "ABCA4-related retinal disease; At least localized low AF signal at the fovea surrounded by a homogeneous background" "<71y" "" "visual loss" "" "" "" "" "" "" "" ""
"0000057587" "00198" "00077812" "01695" "Unknown" "" "ABCA4-related retinal disease; At least localized low AF signal at the fovea surrounded by a homogeneous background" "<71y" "" "visual loss" "" "" "" "" "" "" "" ""
"0000057588" "00198" "00077813" "01695" "Unknown" "" "ABCA4-related retinal disease; At least localized low AF signal at the fovea surrounded by a homogeneous background" "<71y" "" "visual loss" "" "" "" "" "" "" "" ""
"0000057589" "00198" "00077814" "01695" "Unknown" "" "ABCA4-related retinal disease; At least localized low AF signal at the fovea surrounded by a homogeneous background" "<71y" "" "visual loss" "" "" "" "" "" "" "" ""
"0000057590" "00198" "00077815" "01695" "Unknown" "" "ABCA4-related retinal disease; At least localized low AF signal at the fovea surrounded by a homogeneous background" "<71y" "" "visual loss" "" "" "" "" "" "" "" ""
"0000057591" "00198" "00077816" "01695" "Unknown" "" "ABCA4-related retinal disease; At least localized low AF signal at the fovea surrounded by a homogeneous background" "<71y" "" "visual loss" "" "" "" "" "" "" "" ""
"0000057592" "00198" "00077817" "01695" "Unknown" "" "ABCA4-related retinal disease; At least localized low AF signal at the fovea surrounded by a homogeneous background" "<71y" "" "visual loss" "" "" "" "" "" "" "" ""
"0000057593" "00198" "00077818" "01695" "Unknown" "" "ABCA4-related retinal disease; At least localized low AF signal at the fovea surrounded by a homogeneous background" "<71y" "" "visual loss" "" "" "" "" "" "" "" ""
"0000057594" "00198" "00077819" "01695" "Unknown" "" "ABCA4-related retinal disease; At least localized low AF signal at the fovea surrounded by a homogeneous background" "<71y" "" "visual loss" "" "" "" "" "" "" "" ""
"0000057595" "00198" "00077820" "01695" "Unknown" "" "ABCA4-related retinal disease; At least localized low AF signal at the fovea surrounded by a homogeneous background" "<71y" "" "visual loss" "" "" "" "" "" "" "" ""
"0000057596" "00198" "00077821" "01695" "Unknown" "" "ABCA4-related retinal disease; At least localized low AF signal at the fovea surrounded by a homogeneous background" "<71y" "" "visual loss" "" "" "" "" "" "" "" ""
"0000057597" "00198" "00077822" "01695" "Unknown" "" "ABCA4-related retinal disease; At least localized low AF signal at the fovea surrounded by a homogeneous background" "<71y" "" "visual loss" "" "" "" "" "" "" "" ""
"0000057598" "00198" "00077823" "01695" "Unknown" "" "ABCA4-related retinal disease; At least localized low AF signal at the fovea surrounded by a homogeneous background" "<71y" "" "visual loss" "" "" "" "" "" "" "" ""
"0000057599" "00198" "00077824" "01695" "Unknown" "" "ABCA4-related retinal disease; At least localized low AF signal at the fovea surrounded by a homogeneous background" "<71y" "" "visual loss" "" "" "" "" "" "" "" ""
"0000057600" "00198" "00077825" "01695" "Unknown" "" "ABCA4-related retinal disease; At least localized low AF signal at the fovea surrounded by a homogeneous background" "<71y" "" "visual loss" "" "" "" "" "" "" "" ""
"0000057601" "00198" "00077826" "01695" "Unknown" "" "ABCA4-related retinal disease; At least localized low AF signal at the fovea surrounded by a homogeneous background" "<71y" "" "visual loss" "" "" "" "" "" "" "" ""
"0000057602" "00198" "00077827" "01695" "Unknown" "" "ABCA4-related retinal disease; At least localized low AF signal at the fovea surrounded by a homogeneous background" "<71y" "" "visual loss" "" "" "" "" "" "" "" ""
"0000057603" "00198" "00077828" "01695" "Unknown" "" "ABCA4-related retinal disease; At least localized low AF signal at the fovea surrounded by a homogeneous background" "<71y" "" "visual loss" "" "" "" "" "" "" "" ""
"0000057604" "00198" "00077829" "01695" "Unknown" "" "ABCA4-related retinal disease; At least localized low AF signal at the fovea surrounded by a homogeneous background" "<71y" "" "visual loss" "" "" "" "" "" "" "" ""
"0000057605" "00198" "00077830" "01695" "Unknown" "" "ABCA4-related retinal disease; At least localized low AF signal at the fovea surrounded by a homogeneous background" "<71y" "" "visual loss" "" "" "" "" "" "" "" ""
"0000057606" "00198" "00077831" "01695" "Unknown" "" "ABCA4-related retinal disease; At least localized low AF signal at the fovea surrounded by a homogeneous background" "<71y" "" "visual loss" "" "" "" "" "" "" "" ""
"0000057607" "00198" "00077832" "01695" "Unknown" "" "ABCA4-related retinal disease; At least localized low AF signal at the fovea surrounded by a homogeneous background" "<71y" "" "visual loss" "" "" "" "" "" "" "" ""
"0000057608" "00198" "00077833" "01695" "Unknown" "" "ABCA4-related retinal disease; At least localized low AF signal at the fovea surrounded by a homogeneous background" "<71y" "" "visual loss" "" "" "" "" "" "" "" ""
"0000057609" "00198" "00077834" "01695" "Unknown" "" "ABCA4-related retinal disease; At least localized low AF signal at the fovea surrounded by a homogeneous background" "<71y" "" "visual loss" "" "" "" "" "" "" "" ""
"0000057610" "00198" "00077835" "01695" "Unknown" "" "ABCA4-related retinal disease; At least localized low AF signal at the fovea surrounded by a homogeneous background" "<71y" "" "visual loss" "" "" "" "" "" "" "" ""
"0000057611" "00198" "00077836" "01695" "Unknown" "" "ABCA4-related retinal disease; At least localized low AF signal at the fovea surrounded by a homogeneous background" "<71y" "" "visual loss" "" "" "" "" "" "" "" ""
"0000057612" "00198" "00077837" "01695" "Unknown" "" "ABCA4-related retinal disease; At least localized low AF signal at the fovea surrounded by a homogeneous background" "<71y" "" "visual loss" "" "" "" "" "" "" "" ""
"0000057613" "00198" "00077838" "01695" "Unknown" "" "ABCA4-related retinal disease; At least localized low AF signal at the fovea surrounded by a homogeneous background" "<71y" "" "visual loss" "" "" "" "" "" "" "" ""
"0000057614" "00198" "00077839" "01695" "Unknown" "" "ABCA4-related retinal disease; At least localized low AF signal at the fovea surrounded by a homogeneous background" "<71y" "" "visual loss" "" "" "" "" "" "" "" ""
"0000057615" "00198" "00077840" "01695" "Unknown" "" "ABCA4-related retinal disease; At least localized low AF signal at the fovea surrounded by a homogeneous background" "<71y" "" "visual loss" "" "" "" "" "" "" "" ""
"0000057616" "00198" "00077841" "01695" "Unknown" "" "ABCA4-related retinal disease; At least localized low AF signal at the fovea surrounded by a homogeneous background" "<71y" "" "visual loss" "" "" "" "" "" "" "" ""
"0000057617" "00198" "00077842" "01695" "Unknown" "" "ABCA4-related retinal disease; At least localized low AF signal at the fovea surrounded by a homogeneous background" "<71y" "" "visual loss" "" "" "" "" "" "" "" ""
"0000057618" "00198" "00077843" "01695" "Unknown" "" "ABCA4-related retinal disease; At least localized low AF signal at the fovea surrounded by a homogeneous background" "<71y" "" "visual loss" "" "" "" "" "" "" "" ""
"0000057619" "00198" "00077844" "01695" "Unknown" "" "ABCA4-related retinal disease; At least localized low AF signal at the fovea surrounded by a homogeneous background" "<71y" "" "visual loss" "" "" "" "" "" "" "" ""
"0000057620" "00198" "00077845" "01695" "Unknown" "" "ABCA4-related retinal disease; At least localized low AF signal at the fovea surrounded by a homogeneous background" "<71y" "" "visual loss" "" "" "" "" "" "" "" ""
"0000057621" "00198" "00077846" "01695" "Unknown" "" "ABCA4-related retinal disease; At least localized low AF signal at the fovea surrounded by a homogeneous background" "<71y" "" "visual loss" "" "" "" "" "" "" "" ""
"0000057622" "00198" "00077847" "01695" "Unknown" "" "ABCA4-related retinal disease; At least localized low AF signal at the fovea surrounded by a homogeneous background" "<71y" "" "visual loss" "" "" "" "" "" "" "" ""
"0000057623" "00198" "00077848" "01695" "Unknown" "" "ABCA4-related retinal disease; At least localized low AF signal at the fovea surrounded by a homogeneous background" "<71y" "" "visual loss" "" "" "" "" "" "" "" ""
"0000057624" "00198" "00077849" "01695" "Unknown" "" "ABCA4-related retinal disease; At least localized low AF signal at the fovea surrounded by a homogeneous background" "<71y" "" "visual loss" "" "" "" "" "" "" "" ""
"0000057625" "00198" "00077850" "01695" "Unknown" "" "ABCA4-related retinal disease; At least localized low AF signal at the fovea surrounded by a homogeneous background" "<71y" "" "visual loss" "" "" "" "" "" "" "" ""
"0000057626" "00198" "00077851" "01695" "Unknown" "" "ABCA4-related retinal disease; At least localized low AF signal at the fovea surrounded by a homogeneous background" "<71y" "" "visual loss" "" "" "" "" "" "" "" ""
"0000057627" "00198" "00077852" "01695" "Unknown" "" "ABCA4-related retinal disease; At least localized low AF signal at the fovea surrounded by a homogeneous background" "<71y" "" "visual loss" "" "" "" "" "" "" "" ""
"0000057628" "00198" "00077853" "01695" "Unknown" "" "ABCA4-related retinal disease; At least localized low AF signal at the fovea surrounded by a homogeneous background" "<71y" "" "visual loss" "" "" "" "" "" "" "" ""
"0000057629" "00198" "00077854" "01695" "Unknown" "" "ABCA4-related retinal disease; At least localized low AF signal at the fovea surrounded by a homogeneous background" "<71y" "" "visual loss" "" "" "" "" "" "" "" ""
"0000057630" "00198" "00077855" "01695" "Unknown" "" "ABCA4-related retinal disease; At least localized low AF signal at the fovea surrounded by a homogeneous background" "<71y" "" "visual loss" "" "" "" "" "" "" "" ""
"0000057631" "00198" "00077856" "01695" "Unknown" "" "ABCA4-related retinal disease; At least localized low AF signal at the fovea surrounded by a homogeneous background" "<71y" "" "visual loss" "" "" "" "" "" "" "" ""
"0000057632" "00198" "00077857" "01695" "Unknown" "" "ABCA4-related retinal disease; At least localized low AF signal at the fovea surrounded by a homogeneous background" "<71y" "" "visual loss" "" "" "" "" "" "" "" ""
"0000057633" "00198" "00077858" "01695" "Unknown" "" "ABCA4-related retinal disease; At least localized low AF signal at the fovea surrounded by a homogeneous background" "<71y" "" "visual loss" "" "" "" "" "" "" "" ""
"0000057634" "00198" "00077859" "01695" "Unknown" "" "ABCA4-related retinal disease; At least localized low AF signal at the fovea surrounded by a homogeneous background" "<71y" "" "visual loss" "" "" "" "" "" "" "" ""
"0000057635" "00198" "00077860" "01695" "Unknown" "" "ABCA4-related retinal disease; At least localized low AF signal at the fovea surrounded by a homogeneous background" "<71y" "" "visual loss" "" "" "" "" "" "" "" ""
"0000057636" "00198" "00077861" "01695" "Unknown" "" "ABCA4-related retinal disease; At least localized low AF signal at the fovea surrounded by a homogeneous background" "<71y" "" "visual loss" "" "" "" "" "" "" "" ""
"0000057637" "00198" "00077862" "01695" "Unknown" "" "ABCA4-related retinal disease; At least localized low AF signal at the fovea surrounded by a homogeneous background" "<71y" "" "visual loss" "" "" "" "" "" "" "" ""
"0000057638" "00198" "00077863" "01695" "Unknown" "" "ABCA4-related retinal disease; At least localized low AF signal at the fovea surrounded by a homogeneous background" "<71y" "" "visual loss" "" "" "" "" "" "" "" ""
"0000057639" "00198" "00077864" "01695" "Unknown" "" "ABCA4-related retinal disease; At least localized low AF signal at the fovea surrounded by a homogeneous background" "<71y" "" "visual loss" "" "" "" "" "" "" "" ""
"0000057640" "00198" "00077865" "01695" "Unknown" "" "ABCA4-related retinal disease; At least localized low AF signal at the fovea surrounded by a homogeneous background" "<71y" "" "visual loss" "" "" "" "" "" "" "" ""
"0000057641" "00198" "00077866" "01695" "Unknown" "" "ABCA4-related retinal disease; At least localized low AF signal at the fovea surrounded by a homogeneous background" "<71y" "" "visual loss" "" "" "" "" "" "" "" ""
"0000057642" "00198" "00077867" "01695" "Unknown" "" "ABCA4-related retinal disease; At least localized low AF signal at the fovea surrounded by a homogeneous background" "<71y" "" "visual loss" "" "" "" "" "" "" "" ""
"0000057643" "00198" "00077868" "01695" "Unknown" "" "ABCA4-related retinal disease; At least localized low AF signal at the fovea surrounded by a homogeneous background" "<71y" "" "visual loss" "" "" "" "" "" "" "" ""
"0000057644" "00198" "00077869" "01695" "Unknown" "" "ABCA4-related retinal disease; At least localized low AF signal at the fovea surrounded by a homogeneous background" "<71y" "" "visual loss" "" "" "" "" "" "" "" ""
"0000057645" "00198" "00077870" "01695" "Unknown" "" "ABCA4-related retinal disease; At least localized low AF signal at the fovea surrounded by a homogeneous background" "<71y" "" "visual loss" "" "" "" "" "" "" "" ""
"0000057646" "00198" "00077871" "01695" "Unknown" "" "ABCA4-related retinal disease; At least localized low AF signal at the fovea surrounded by a homogeneous background" "<71y" "" "visual loss" "" "" "" "" "" "" "" ""
"0000057647" "00198" "00077872" "01695" "Unknown" "" "ABCA4-related retinal disease; At least localized low AF signal at the fovea surrounded by a homogeneous background" "<71y" "" "visual loss" "" "" "" "" "" "" "" ""
"0000057648" "00198" "00077873" "01695" "Unknown" "" "ABCA4-related retinal disease; At least localized low AF signal at the fovea surrounded by a homogeneous background" "<71y" "" "visual loss" "" "" "" "" "" "" "" ""
"0000057649" "00198" "00077874" "01695" "Unknown" "" "ABCA4-related retinal disease; At least localized low AF signal at the fovea surrounded by a homogeneous background" "<71y" "" "visual loss" "" "" "" "" "" "" "" ""
"0000057650" "00198" "00077875" "01695" "Unknown" "" "ABCA4-related retinal disease; At least localized low AF signal at the fovea surrounded by a homogeneous background" "<71y" "" "visual loss" "" "" "" "" "" "" "" ""
"0000057651" "00198" "00077876" "01695" "Unknown" "" "ABCA4-related retinal disease; At least localized low AF signal at the fovea surrounded by a homogeneous background" "<71y" "" "visual loss" "" "" "" "" "" "" "" ""
"0000057652" "00198" "00077877" "01695" "Unknown" "" "ABCA4-related retinal disease; At least localized low AF signal at the fovea surrounded by a homogeneous background" "<71y" "" "visual loss" "" "" "" "" "" "" "" ""
"0000057653" "00198" "00077878" "01695" "Unknown" "" "ABCA4-related retinal disease; At least localized low AF signal at the fovea surrounded by a homogeneous background" "<71y" "" "visual loss" "" "" "" "" "" "" "" ""
"0000057654" "00198" "00077879" "01695" "Unknown" "" "ABCA4-related retinal disease; At least localized low AF signal at the fovea surrounded by a homogeneous background" "<71y" "" "visual loss" "" "" "" "" "" "" "" ""
"0000057655" "00198" "00077880" "01695" "Unknown" "" "ABCA4-related retinal disease; At least localized low AF signal at the fovea surrounded by a homogeneous background" "<71y" "" "visual loss" "" "" "" "" "" "" "" ""
"0000057656" "00198" "00077881" "01695" "Unknown" "" "ABCA4-related retinal disease; At least localized low AF signal at the fovea surrounded by a homogeneous background" "<71y" "" "visual loss" "" "" "" "" "" "" "" ""
"0000057657" "00198" "00077882" "01695" "Unknown" "" "ABCA4-related retinal disease; At least localized low AF signal at the fovea surrounded by a homogeneous background" "<71y" "" "visual loss" "" "" "" "" "" "" "" ""
"0000057658" "00198" "00077883" "01695" "Unknown" "" "ABCA4-related retinal disease; At least localized low AF signal at the fovea surrounded by a homogeneous background" "<71y" "" "visual loss" "" "" "" "" "" "" "" ""
"0000057659" "00198" "00077884" "01695" "Unknown" "" "ABCA4-related retinal disease; At least localized low AF signal at the fovea surrounded by a homogeneous background" "<71y" "" "visual loss" "" "" "" "" "" "" "" ""
"0000057660" "00198" "00077885" "01695" "Unknown" "" "ABCA4-related retinal disease; At least localized low AF signal at the fovea surrounded by a homogeneous background" "<71y" "" "visual loss" "" "" "" "" "" "" "" ""
"0000057661" "00198" "00077886" "01695" "Unknown" "" "ABCA4-related retinal disease; y58 visual acuity was 1 LogMAR, there was localized low AF signal at the fovea surrounded by a homogeneous background and the size of atrophy was 0.75mm^2 in the right eye. y67, visual acuity was 1.3 LogMAR, there was localized low AF signal at the fovea surrounded by a homogeneous background and the size of atrophy was 0.75mm^2 in the right eye." "38y" "" "visual loss" "" "" "" "" "" "" "" ""
"0000057662" "00198" "00077887" "01695" "Unknown" "" "ABCA4-related retinal disease; y50 visual acuity was 1.78 LogMAR, there was localized low AF signal at the fovea surrounded by a homogeneous background and the size of atrophy was <0.18mm^2 in the left eye. y61, visual acuity was 1 LogMAR, there was localized low AF signal at the fovea surrounded by a homogeneous background and the size of atrophy was <0.18mm^2 in the left eye." "27y" "" "visual loss" "" "" "" "" "" "" "" ""
"0000057663" "00198" "00077888" "01695" "Unknown" "" "ABCA4-related retinal disease; y26 visual acuity was 1 LogMAR, there was localized low AF signal at the fovea surrounded by a homogeneous background and the size of atrophy was 0.18mm^2 in the left eye. y35, visual acuity was 1 LogMAR, there was localized low AF signal at the fovea surrounded by a homogeneous background and the size of atrophy was 0.18mm^2 in the left eye." "18y" "" "visual loss" "" "" "" "" "" "" "" ""
"0000057664" "00198" "00077889" "01695" "Unknown" "" "ABCA4-related retinal disease; y21 visual acuity was 0.48 LogMAR, there was localized low AF signal at the fovea surrounded by a homogeneous background and the size of atrophy was <0.18mm^2 in the left eye. y28, visual acuity was 0.78 LogMAR, there was localized low AF signal at the fovea surrounded by a homogeneous background and the size of atrophy was <0.18mm^2 in the left eye." "18y" "" "visual loss" "" "" "" "" "" "" "" ""
"0000057665" "00198" "00077890" "01695" "Unknown" "" "ABCA4-related retinal disease; y29 visual acuity was 0.3 LogMAR, there was localized low AF signal at the fovea surrounded by a homogeneous background and the size of atrophy was 0.26mm^2 in the left eye. y36, visual acuity was 1.08 LogMAR, there was localized low AF signal at the fovea surrounded by a homogeneous background and the size of atrophy was 0.26mm^2 in the left eye." "27y" "" "visual loss" "" "" "" "" "" "" "" ""
"0000057666" "00198" "00077891" "01695" "Unknown" "" "ABCA4-related retinal disease; y11 visual acuity was 1.08 LogMAR, there was localized low AF signal at the fovea surrounded by a homogeneous background and the size of atrophy was <0.18mm^2 in the right eye. y18, visual acuity was 1 LogMAR, there was localized low AF signal at the fovea surrounded by a homogeneous background and the size of atrophy was <0.18mm^2 in the right eye." "9y" "" "visual loss" "" "" "" "" "" "" "" ""
"0000057667" "00198" "00077892" "01695" "Unknown" "" "ABCA4-related retinal disease; y28 visual acuity was 0 LogMAR, there was localized low AF signal at the fovea surrounded by a homogeneous background and the size of atrophy was <0.18mm^2 in the right eye. y34, visual acuity was 0.18 LogMAR, there was localized low AF signal at the fovea surrounded by a homogeneous background and the size of atrophy was <0.18mm^2 in the right eye." "28y" "" "visual loss" "" "" "" "" "" "" "" ""
"0000057668" "00198" "00077893" "01695" "Unknown" "" "ABCA4-related retinal disease; y28 visual acuity was 0.6 LogMAR, there was localized low AF signal at the fovea surrounded by a homogeneous background and the size of atrophy was 0.47mm^2 in the right eye. y35, visual acuity was 1.3 LogMAR, there was localized low AF signal at the fovea surrounded by a homogeneous background and the size of atrophy was 0.47mm^2 in the right eye." "24y" "" "visual loss" "" "" "" "" "" "" "" ""
"0000057669" "00198" "00077894" "01695" "Unknown" "" "ABCA4-related retinal disease; y14 visual acuity was 0.48 LogMAR, there was localized low AF signal at the fovea surrounded by a homogeneous background and the size of atrophy was <0.18mm^2 in the left eye. y21, visual acuity was 1 LogMAR, there was localized low AF signal at the fovea surrounded by a homogeneous background and the size of atrophy was <0.18mm^2 in the left eye." "14y" "" "visual loss" "" "" "" "" "" "" "" ""
"0000057670" "00198" "00077895" "01695" "Unknown" "" "ABCA4-related retinal disease; y39 visual acuity was 0.78 LogMAR, there was localized low AF signal at the fovea surrounded by a homogeneous background and the size of atrophy was 0.25mm^2 in the right eye. y51, visual acuity was 0.78 LogMAR, there was localized low AF signal at the fovea surrounded by a homogeneous background and the size of atrophy was 0.25mm^2 in the right eye." "39y" "" "visual loss" "" "" "" "" "" "" "" ""
"0000057671" "00198" "00077896" "01695" "Unknown" "" "ABCA4-related retinal disease; y17 visual acuity was 0 LogMAR, there was localized low AF signal at the fovea surrounded by a homogeneous background and the size of atrophy was <0.18mm^2 in the right eye. y29, visual acuity was 0 LogMAR, there was localized low AF signal at the macula surrounded by a heterogeneous background, and widespread foci of high or low AF signal extending anterior to the vascular arcades and the size of atrophy was <0.18mm^2 in the right eye." "16y" "" "visual loss" "" "" "" "" "" "" "" ""
"0000057672" "00198" "00077897" "01695" "Unknown" "" "ABCA4-related retinal disease; y32 visual acuity was 1 LogMAR, there was localized low AF signal at the fovea surrounded by a homogeneous background and the size of atrophy was 0.67mm^2 in the right eye. y45, visual acuity was 1 LogMAR, there was localized low AF signal at the macula surrounded by a heterogeneous background, and widespread foci of high or low AF signal extending anterior to the vascular arcades and the size of atrophy was 0.67mm^2 in the right eye." "23y" "" "visual loss" "" "" "" "" "" "" "" ""
"0000057673" "00198" "00077898" "01695" "Unknown" "" "ABCA4-related retinal disease; y29 visual acuity was 0.78 LogMAR, there was localized low AF signal at the fovea surrounded by a homogeneous background and the size of atrophy was <0.18mm^2 in the left eye. y37, visual acuity was 1 LogMAR, there was localized low AF signal at the macula surrounded by a heterogeneous background, and widespread foci of high or low AF signal extending anterior to the vascular arcades and the size of atrophy was <0.18mm^2 in the left eye." "24y" "" "visual loss" "" "" "" "" "" "" "" ""
"0000057674" "00198" "00077899" "01695" "Unknown" "" "ABCA4-related retinal disease; y21 visual acuity was 0.78 LogMAR, there was localized low AF signal at the fovea surrounded by a homogeneous background and the size of atrophy was 0.85mm^2 in the left eye. y32, visual acuity was 1 LogMAR, there was localized low AF signal at the macula surrounded by a heterogeneous background, and widespread foci of high or low AF signal extending anterior to the vascular arcades and the size of atrophy was 0.85mm^2 in the left eye." "19y" "" "visual loss" "" "" "" "" "" "" "" ""
"0000057675" "00198" "00077900" "01695" "Unknown" "" "ABCA4-related retinal disease; y35 visual acuity was 0 LogMAR, there was localized low AF signal at the fovea surrounded by a homogeneous background and the size of atrophy was 0.45mm^2 in the left eye. y45, visual acuity was 1 LogMAR, there was localized low AF signal at the macula surrounded by a heterogeneous background, and widespread foci of high or low AF signal extending anterior to the vascular arcades and the size of atrophy was 0.45mm^2 in the left eye." "32y" "" "visual loss" "" "" "" "" "" "" "" ""
"0000057676" "00198" "00077901" "01695" "Unknown" "" "ABCA4-related retinal disease; y23 visual acuity was 1.3 LogMAR, there was localized low AF signal at the fovea surrounded by a homogeneous background and the size of atrophy was <0.18mm^2 in the right eye. y29, visual acuity was 1.3 LogMAR, there was localized low AF signal at the macula surrounded by a heterogeneous background, and widespread foci of high or low AF signal extending anterior to the vascular arcades and the size of atrophy was <0.18mm^2 in the right eye." "12y" "" "visual loss" "" "" "" "" "" "" "" ""
"0000057677" "00198" "00077902" "01695" "Unknown" "" "ABCA4-related retinal disease; y35 visual acuity was 1 LogMAR, there was localized low AF signal at the macula surrounded by a heterogeneous background, and widespread foci of high or low AF signal extending anterior to the vascular arcades and the size of atrophy was 1.91mm^2 in the left eye. y47, visual acuity was 1 LogMAR, there was localized low AF signal at the macula surrounded by a heterogeneous background, and widespread foci of high or low AF signal extending anterior to the vascular arcades and the size of atrophy was 1.91mm^2 in the left eye." "17y" "" "visual loss" "" "" "" "" "" "" "" ""
"0000057678" "00198" "00077903" "01695" "Unknown" "" "ABCA4-related retinal disease; y48 visual acuity was 1 LogMAR, there was localized low AF signal at the macula surrounded by a heterogeneous background, and widespread foci of high or low AF signal extending anterior to the vascular arcades and the size of atrophy was 2.49mm^2 in the left eye. y59, visual acuity was 1 LogMAR, there was localized low AF signal at the macula surrounded by a heterogeneous background, and widespread foci of high or low AF signal extending anterior to the vascular arcades and the size of atrophy was 2.49mm^2 in the left eye." "22y" "" "visual loss" "" "" "" "" "" "" "" ""
"0000057679" "00198" "00077904" "01695" "Unknown" "" "ABCA4-related retinal disease; y56 visual acuity was 0.78 LogMAR, there was localized low AF signal at the macula surrounded by a heterogeneous background, and widespread foci of high or low AF signal extending anterior to the vascular arcades and the size of atrophy was 11.65mm^2 in the left eye. y63, visual acuity was 1 LogMAR, there was localized low AF signal at the macula surrounded by a heterogeneous background, and widespread foci of high or low AF signal extending anterior to the vascular arcades and the size of atrophy was 11.65mm^2 in the left eye." "48y" "" "visual loss" "" "" "" "" "" "" "" ""
"0000057680" "00198" "00077905" "01695" "Unknown" "" "ABCA4-related retinal disease; y24 visual acuity was 1 LogMAR, there was localized low AF signal at the macula surrounded by a heterogeneous background, and widespread foci of high or low AF signal extending anterior to the vascular arcades and the size of atrophy was 1.74mm^2 in the right eye. y33, visual acuity was 1 LogMAR, there was localized low AF signal at the macula surrounded by a heterogeneous background, and widespread foci of high or low AF signal extending anterior to the vascular arcades and the size of atrophy was 1.74mm^2 in the right eye." "21y" "" "visual loss" "" "" "" "" "" "" "" ""
"0000057681" "00198" "00077906" "01695" "Unknown" "" "ABCA4-related retinal disease; y35 visual acuity was 1 LogMAR, there was localized low AF signal at the macula surrounded by a heterogeneous background, and widespread foci of high or low AF signal extending anterior to the vascular arcades and the size of atrophy was 4.12mm^2 in the right eye. y44, visual acuity was 1 LogMAR, there was localized low AF signal at the macula surrounded by a heterogeneous background, and widespread foci of high or low AF signal extending anterior to the vascular arcades and the size of atrophy was 4.12mm^2 in the right eye." "26y" "" "visual loss" "" "" "" "" "" "" "" ""
"0000057682" "00198" "00077907" "01695" "Unknown" "" "ABCA4-related retinal disease; y54 visual acuity was 1 LogMAR, there was localized low AF signal at the macula surrounded by a heterogeneous background, and widespread foci of high or low AF signal extending anterior to the vascular arcades and the size of atrophy was 18.27mm^2 in the left eye. y65, visual acuity was 1 LogMAR, there was localized low AF signal at the macula surrounded by a heterogeneous background, and widespread foci of high or low AF signal extending anterior to the vascular arcades and the size of atrophy was 18.27mm^2 in the left eye." "23y" "" "visual loss" "" "" "" "" "" "" "" ""
"0000057683" "00198" "00077908" "01695" "Unknown" "" "ABCA4-related retinal disease; y28 visual acuity was 1 LogMAR, there was localized low AF signal at the macula surrounded by a heterogeneous background, and widespread foci of high or low AF signal extending anterior to the vascular arcades and the size of atrophy was 1.08mm^2 in the left eye. y38, visual acuity was 1 LogMAR, there was localized low AF signal at the macula surrounded by a heterogeneous background, and widespread foci of high or low AF signal extending anterior to the vascular arcades and the size of atrophy was 1.08mm^2 in the left eye." "18y" "" "visual loss" "" "" "" "" "" "" "" ""
"0000057684" "00198" "00077909" "01695" "Unknown" "" "ABCA4-related retinal disease; y15 visual acuity was 1.08 LogMAR, there was localized low AF signal at the macula surrounded by a heterogeneous background, and widespread foci of high or low AF signal extending anterior to the vascular arcades and the size of atrophy was 1.01mm^2 in the right eye. y21, visual acuity was 1 LogMAR, there was localized low AF signal at the macula surrounded by a heterogeneous background, and widespread foci of high or low AF signal extending anterior to the vascular arcades and the size of atrophy was 1.01mm^2 in the right eye." "9y" "" "visual loss" "" "" "" "" "" "" "" ""
"0000057685" "00198" "00077910" "01695" "Unknown" "" "ABCA4-related retinal disease; y11 visual acuity was 1 LogMAR, there was localized low AF signal at the macula surrounded by a heterogeneous background, and widespread foci of high or low AF signal extending anterior to the vascular arcades and the size of atrophy was 1.45mm^2 in the right eye. y23, visual acuity was 1 LogMAR, there was localized low AF signal at the macula surrounded by a heterogeneous background, and widespread foci of high or low AF signal extending anterior to the vascular arcades and the size of atrophy was 1.45mm^2 in the right eye." "10y" "" "visual loss" "" "" "" "" "" "" "" ""
"0000057686" "00198" "00077911" "01695" "Unknown" "" "ABCA4-related retinal disease; y8 visual acuity was 0.78 LogMAR, there was localized low AF signal at the macula surrounded by a heterogeneous background, and widespread foci of high or low AF signal extending anterior to the vascular arcades and the size of atrophy was 1.89mm^2 in the right eye. y20, visual acuity was 1 LogMAR, there was localized low AF signal at the macula surrounded by a heterogeneous background, and widespread foci of high or low AF signal extending anterior to the vascular arcades and the size of atrophy was 1.89mm^2 in the right eye." "8y" "" "visual loss" "" "" "" "" "" "" "" ""
"0000057687" "00198" "00077912" "01695" "Unknown" "" "ABCA4-related retinal disease; y12 visual acuity was 1 LogMAR, there was localized low AF signal at the macula surrounded by a heterogeneous background, and widespread foci of high or low AF signal extending anterior to the vascular arcades and the size of atrophy was 1.49mm^2 in the left eye. y24, visual acuity was 1.98 LogMAR, there was localized low AF signal at the macula surrounded by a heterogeneous background, and widespread foci of high or low AF signal extending anterior to the vascular arcades and the size of atrophy was 1.49mm^2 in the left eye." "8y" "" "visual loss" "" "" "" "" "" "" "" ""
"0000057688" "00198" "00077913" "01695" "Unknown" "" "ABCA4-related retinal disease; y21 visual acuity was 0.78 LogMAR, there was localized low AF signal at the macula surrounded by a heterogeneous background, and widespread foci of high or low AF signal extending anterior to the vascular arcades and the size of atrophy was 1.18mm^2 in the left eye. y28, visual acuity was 1 LogMAR, there was localized low AF signal at the macula surrounded by a heterogeneous background, and widespread foci of high or low AF signal extending anterior to the vascular arcades and the size of atrophy was 1.18mm^2 in the left eye." "17y" "" "visual loss" "" "" "" "" "" "" "" ""
"0000057689" "00198" "00077914" "01695" "Unknown" "" "ABCA4-related retinal disease; y21 visual acuity was 1 LogMAR, there was localized low AF signal at the macula surrounded by a heterogeneous background, and widespread foci of high or low AF signal extending anterior to the vascular arcades and the size of atrophy was 7.65mm^2 in the right eye. y33, visual acuity was 1.3 LogMAR, there was localized low AF signal at the macula surrounded by a heterogeneous background, and widespread foci of high or low AF signal extending anterior to the vascular arcades and the size of atrophy was 7.65mm^2 in the right eye." "8y" "" "visual loss" "" "" "" "" "" "" "" ""
"0000057690" "00198" "00077915" "01695" "Unknown" "" "ABCA4-related retinal disease; y54 visual acuity was 0.18 LogMAR, there was localized low AF signal at the macula surrounded by a heterogeneous background, and widespread foci of high or low AF signal extending anterior to the vascular arcades and the size of atrophy was 6.68mm^2 in the left eye. y65, visual acuity was 1 LogMAR, there was localized low AF signal at the macula surrounded by a heterogeneous background, and widespread foci of high or low AF signal extending anterior to the vascular arcades and the size of atrophy was 6.68mm^2 in the left eye." "25y" "" "visual loss" "" "" "" "" "" "" "" ""
"0000057691" "00198" "00077916" "01695" "Unknown" "" "ABCA4-related retinal disease; y31 visual acuity was 1.3 LogMAR, there was localized low AF signal at the macula surrounded by a heterogeneous background, and widespread foci of high or low AF signal extending anterior to the vascular arcades and the size of atrophy was 3.8mm^2 in the right eye. y38, visual acuity was 1.98 LogMAR, there was localized low AF signal at the macula surrounded by a heterogeneous background, and widespread foci of high or low AF signal extending anterior to the vascular arcades and the size of atrophy was 3.8mm^2 in the right eye." "11y" "" "visual loss" "" "" "" "" "" "" "" ""
"0000057692" "00198" "00077917" "01695" "Unknown" "" "ABCA4-related retinal disease; y18 visual acuity was 0.78 LogMAR, there was localized low AF signal at the macula surrounded by a heterogeneous background, and widespread foci of high or low AF signal extending anterior to the vascular arcades and the size of atrophy was 0.29mm^2 in the right eye. y24, visual acuity was 1 LogMAR, there was localized low AF signal at the macula surrounded by a heterogeneous background, and widespread foci of high or low AF signal extending anterior to the vascular arcades and the size of atrophy was 0.29mm^2 in the right eye." "14y" "" "visual loss" "" "" "" "" "" "" "" ""
"0000057693" "00198" "00077918" "01695" "Unknown" "" "ABCA4-related retinal disease; y35 visual acuity was 0.78 LogMAR, there was localized low AF signal at the macula surrounded by a heterogeneous background, and widespread foci of high or low AF signal extending anterior to the vascular arcades and the size of atrophy was 0.84mm^2 in the right eye. y44, visual acuity was 0.78 LogMAR, there was localized low AF signal at the macula surrounded by a heterogeneous background, and widespread foci of high or low AF signal extending anterior to the vascular arcades and the size of atrophy was 0.84mm^2 in the right eye." "26y" "" "visual loss" "" "" "" "" "" "" "" ""
"0000057694" "00198" "00077919" "01695" "Unknown" "" "ABCA4-related retinal disease; y25 visual acuity was 1 LogMAR, there was localized low AF signal at the macula surrounded by a heterogeneous background, and widespread foci of high or low AF signal extending anterior to the vascular arcades and the size of atrophy was 0.29mm^2 in the right eye. y31, visual acuity was 1.48 LogMAR, there was localized low AF signal at the macula surrounded by a heterogeneous background, and widespread foci of high or low AF signal extending anterior to the vascular arcades and the size of atrophy was 0.29mm^2 in the right eye." "16y" "" "visual loss" "" "" "" "" "" "" "" ""
"0000057695" "00198" "00077920" "01695" "Unknown" "" "ABCA4-related retinal disease; y30 visual acuity was 1 LogMAR, there was localized low AF signal at the macula surrounded by a heterogeneous background, and widespread foci of high or low AF signal extending anterior to the vascular arcades and the size of atrophy was 1.94mm^2 in the left eye. y36, visual acuity was 1 LogMAR, there was localized low AF signal at the macula surrounded by a heterogeneous background, and widespread foci of high or low AF signal extending anterior to the vascular arcades and the size of atrophy was 1.94mm^2 in the left eye." "11y" "" "visual loss" "" "" "" "" "" "" "" ""
"0000057696" "00198" "00077921" "01695" "Unknown" "" "ABCA4-related retinal disease; y57 visual acuity was 1.3 LogMAR, there was localized low AF signal at the macula surrounded by a heterogeneous background, and widespread foci of high or low AF signal extending anterior to the vascular arcades and the size of atrophy was 8.11mm^2 in the right eye. y66, visual acuity was 1.3 LogMAR, there was localized low AF signal at the macula surrounded by a heterogeneous background, and widespread foci of high or low AF signal extending anterior to the vascular arcades and the size of atrophy was 8.11mm^2 in the right eye." "37y" "" "visual loss" "" "" "" "" "" "" "" ""
"0000057697" "00198" "00077922" "01695" "Unknown" "" "ABCA4-related retinal disease; y29 visual acuity was 0.6 LogMAR, there was localized low AF signal at the macula surrounded by a heterogeneous background, and widespread foci of high or low AF signal extending anterior to the vascular arcades and the size of atrophy was <0.18mm^2 in the right eye. y36, visual acuity was 1 LogMAR, there was localized low AF signal at the macula surrounded by a heterogeneous background, and widespread foci of high or low AF signal extending anterior to the vascular arcades and the size of atrophy was <0.18mm^2 in the right eye." "26y" "" "visual loss" "" "" "" "" "" "" "" ""
"0000057698" "00198" "00077923" "01695" "Unknown" "" "ABCA4-related retinal disease; y37 visual acuity was 1.3 LogMAR, there was localized low AF signal at the macula surrounded by a heterogeneous background, and widespread foci of high or low AF signal extending anterior to the vascular arcades and the size of atrophy was 1.12mm^2 in the right eye. y47, visual acuity was 1.98 LogMAR, there was localized low AF signal at the macula surrounded by a heterogeneous background, and widespread foci of high or low AF signal extending anterior to the vascular arcades and the size of atrophy was 1.12mm^2 in the right eye." "23y" "" "visual loss" "" "" "" "" "" "" "" ""
"0000057699" "00198" "00077924" "01695" "Unknown" "" "ABCA4-related retinal disease; y47 visual acuity was 1 LogMAR, there was localized low AF signal at the macula surrounded by a heterogeneous background, and widespread foci of high or low AF signal extending anterior to the vascular arcades and the size of atrophy was 19.53mm^2 in the right eye. y53, visual acuity was 1.3 LogMAR, there was localized low AF signal at the macula surrounded by a heterogeneous background, and widespread foci of high or low AF signal extending anterior to the vascular arcades and the size of atrophy was 19.53mm^2 in the right eye." "33y" "" "visual loss" "" "" "" "" "" "" "" ""
"0000057700" "00198" "00077925" "01695" "Unknown" "" "ABCA4-related retinal disease; y16 visual acuity was 0.78 LogMAR, there was localized low AF signal at the macula surrounded by a heterogeneous background, and widespread foci of high or low AF signal extending anterior to the vascular arcades and the size of atrophy was 5.12mm^2 in the right eye. y23, visual acuity was 1 LogMAR, there was localized low AF signal at the macula surrounded by a heterogeneous background, and widespread foci of high or low AF signal extending anterior to the vascular arcades and the size of atrophy was 5.12mm^2 in the right eye." "8y" "" "visual loss" "" "" "" "" "" "" "" ""
"0000057701" "00198" "00077926" "01695" "Unknown" "" "ABCA4-related retinal disease; y40 visual acuity was 1 LogMAR, there was localized low AF signal at the macula surrounded by a heterogeneous background, and widespread foci of high or low AF signal extending anterior to the vascular arcades and the size of atrophy was 22.29mm^2 in the left eye. y47, visual acuity was 1 LogMAR, there was localized low AF signal at the macula surrounded by a heterogeneous background, and widespread foci of high or low AF signal extending anterior to the vascular arcades and the size of atrophy was 22.29mm^2 in the left eye." "7y" "" "visual loss" "" "" "" "" "" "" "" ""
"0000057702" "00198" "00077927" "01695" "Unknown" "" "ABCA4-related retinal disease; y29 visual acuity was 1.3 LogMAR, there was localized low AF signal at the macula surrounded by a heterogeneous background, and widespread foci of high or low AF signal extending anterior to the vascular arcades and the size of atrophy was 9.49mm^2 in the left eye. y35, visual acuity was 1.3 LogMAR, there was localized low AF signal at the macula surrounded by a heterogeneous background, and widespread foci of high or low AF signal extending anterior to the vascular arcades and the size of atrophy was 9.49mm^2 in the left eye." "5y" "" "visual loss" "" "" "" "" "" "" "" ""
"0000057703" "00198" "00077928" "01695" "Unknown" "" "ABCA4-related retinal disease; y32 visual acuity was 1.3 LogMAR, there was localized low AF signal at the macula surrounded by a heterogeneous background, and widespread foci of high or low AF signal extending anterior to the vascular arcades and the size of atrophy was 2.82mm^2 in the left eye. y38, visual acuity was 1.3 LogMAR, there was localized low AF signal at the macula surrounded by a heterogeneous background, and widespread foci of high or low AF signal extending anterior to the vascular arcades and the size of atrophy was 2.82mm^2 in the left eye." "11y" "" "visual loss" "" "" "" "" "" "" "" ""
"0000057704" "00198" "00077929" "01695" "Unknown" "" "ABCA4-related retinal disease; y31 visual acuity was 1.18 LogMAR, there was localized low AF signal at the macula surrounded by a heterogeneous background, and widespread foci of high or low AF signal extending anterior to the vascular arcades and the size of atrophy was 2.81mm^2 in the left eye. y43, visual acuity was 1.3 LogMAR, there was multiple areas of low AF signal at the posterior pole with a heterogeneous background and the size of atrophy was 2.81mm^2 in the left eye." "24y" "" "visual loss" "" "" "" "" "" "" "" ""
"0000057705" "00198" "00077930" "01695" "Unknown" "" "ABCA4-related retinal disease; y17 visual acuity was 1.3 LogMAR, there was localized low AF signal at the macula surrounded by a heterogeneous background, and widespread foci of high or low AF signal extending anterior to the vascular arcades and the size of atrophy was 1.26mm^2 in the right eye. y29, visual acuity was 1.3 LogMAR, there was multiple areas of low AF signal at the posterior pole with a heterogeneous background and the size of atrophy was 1.26mm^2 in the right eye." "7y" "" "visual loss" "" "" "" "" "" "" "" ""
"0000057706" "00198" "00077931" "01695" "Unknown" "" "ABCA4-related retinal disease; y40 visual acuity was 0.48 LogMAR, there was localized low AF signal at the macula surrounded by a heterogeneous background, and widespread foci of high or low AF signal extending anterior to the vascular arcades and the size of atrophy was 6.41mm^2 in the right eye. y47, visual acuity was 1 LogMAR, there was multiple areas of low AF signal at the posterior pole with a heterogeneous background and the size of atrophy was 6.41mm^2 in the right eye." "28y" "" "visual loss" "" "" "" "" "" "" "" ""
"0000057707" "00198" "00077932" "01695" "Unknown" "" "ABCA4-related retinal disease; y26 visual acuity was 1.56 LogMAR, there was and the size of atrophy was BSmm^2 in the right eye. y38, visual acuity was 1.98 LogMAR, there was multiple areas of low AF signal at the posterior pole with a heterogeneous background and the size of atrophy was BSmm^2 in the right eye." "24y" "" "visual loss" "" "" "" "" "" "" "" ""
"0000057708" "00198" "00077933" "01695" "Unknown" "" "ABCA4-related retinal disease; y42 visual acuity was 1 LogMAR, there was multiple areas of low AF signal at the posterior pole with a heterogeneous background and the size of atrophy was BSmm^2 in the left eye. y51, visual acuity was 1 LogMAR, there was multiple areas of low AF signal at the posterior pole with a heterogeneous background and the size of atrophy was BSmm^2 in the left eye." "23y" "" "visual loss" "" "" "" "" "" "" "" ""
"0000057709" "00198" "00077934" "01695" "Unknown" "" "ABCA4-related retinal disease; y27 visual acuity was 1.98 LogMAR, there was multiple areas of low AF signal at the posterior pole with a heterogeneous background and the size of atrophy was 4.77mm^2 in the right eye. y39, visual acuity was 1.78 LogMAR, there was multiple areas of low AF signal at the posterior pole with a heterogeneous background and the size of atrophy was 4.77mm^2 in the right eye." "8y" "" "visual loss" "" "" "" "" "" "" "" ""
"0000057710" "00198" "00077935" "01695" "Unknown" "" "ABCA4-related retinal disease; y55 visual acuity was 1.78 LogMAR, there was multiple areas of low AF signal at the posterior pole with a heterogeneous background and the size of atrophy was BSmm^2 in the left eye. y63, visual acuity was 1.78 LogMAR, there was multiple areas of low AF signal at the posterior pole with a heterogeneous background and the size of atrophy was BSmm^2 in the left eye." "8y" "" "visual loss" "" "" "" "" "" "" "" ""
"0000057711" "00198" "00077936" "01695" "Unknown" "" "ABCA4-related retinal disease; y37 visual acuity was 1 LogMAR, there was multiple areas of low AF signal at the posterior pole with a heterogeneous background and the size of atrophy was 27.23mm^2 in the right eye. y43, visual acuity was 1 LogMAR, there was multiple areas of low AF signal at the posterior pole with a heterogeneous background and the size of atrophy was 27.23mm^2 in the right eye." "10y" "" "visual loss" "" "" "" "" "" "" "" ""
"0000057712" "04214" "00077937" "01695" "Familial, autosomal recessive" "" "retinitis pigmentosa; onset early childhood; y69, visual acuity: OD count fingers, OS count fingers, visual fields: Minimal temporal crescent-shaped remnants. Severely reduced retinal function centrally (mERG) and in the periphery (ff-ERG) and small temporal remnants of the visual fields." "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000057713" "00058" "00077938" "01695" "Familial, autosomal recessive" "" "cone-rod dystrophy (HP:0000510); y23, visual acuity: OD 0.04, OS 0.05, visual fields: Large nasal paracentral/central scotomas. Large scotomas that over time deepened but did not grow. Ff-ERG was reduced; it was most marked for the cones, and the IT for the 30 Hz flicker was delayed. MERG was severely reduced with prolonged implicit times (ITs). Fundoscopic changes were typical for CRD, and OCT showed attenuation." "9y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057714" "00420" "00077939" "01695" "Familial, autosomal recessive" "" "Stargardt disease; y48, visual acuity: OD 0.5, OS 0.3, visual fields: Small nasal central scotomas for 04:e. Yellow flecks around the macula. He had small scotomas within the most central 5° and corresponding reduction in the paracentral mERG but normal implicit times. OCT showed attenuated retina in the five innermost segments." "40y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057715" "00058" "00077940" "01695" "Familial, autosomal recessive" "" "cone-rod dystrophy (HP:0000510); y25, visual acuity: OD 0.03, OS 0.04, visual fields: Large central/para-central scotomas and peripheral constriction. Initially had almost normal visual fields for her age, but over time, they became increasingly constricted with large scotomas. The ff-ERG was severely reduced, and the 30 Hz flicker IT was prolonged, showing further delay over time. The mERG was severely reduced, and the registration was of bad quality due to poor fixation. Fundoscopic changes were mostly consistent with arRP, but due to the character of her visual fields and the ff-ERG, patient 2IIa was classified as having CRD." "7y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057716" "00420" "00077941" "01695" "Familial, autosomal recessive" "" "Stargardt disease; y23, visual acuity: OD 0.16, OS 0.13, visual fields: Small central scotomas for 03:e OD and 04:e OS within the central 5°. Reduced mERG amplitudes within the central 15°. Subtle fundoscopic changes, typical of STGD, were found as well as an attenuated retina on OCT; y22, visual acuity: 0.16, 0.13 (OD, OS). Small central scotomas for 04e." "20y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057717" "00420" "00077942" "01695" "Familial, autosomal recessive" "" "Stargardt disease; y12, visual acuity: OD 1, OS 1,0, visual fields: No symptoms yet, but the mERG was reduced, and OCT demonstrated attenuated retina in the innermost five segments of the macular map as well as intraretinal fluid in the center. Only subtle changes were found in the fundus.." "" "" "no onset yet" "" "" "" "" "" "" "" ""
"0000057718" "00420" "00077943" "01695" "Familial, autosomal recessive" "" "Stargardt disease; y41, visual acuity: OD 0.2, OS 0.1, visual fields: Small central scotomas within 5–10°, concentric reduction of II4:e. Small central scotomas that have grown slightly deeper and wider over the years. The mERG was reduced in the paracentral and central areas , and the ITs for the latest mERG (LE) were slightly prolonged. OCT showed macular attenuation, and the fundoscopic changes are typical for STGD ." "15y" "" "reading problems and photophobia" "" "" "" "" "" "" "" ""
"0000057719" "00420" "00077944" "01695" "Familial, autosomal recessive" "" "Stargardt disease; y12, visual acuity: OD 0.09, OS 0.16, visual fields: Deep central scotomas within 20–30°. The ff-ERG parameters were normal, but the amplitudes of the 30 Hz flicker were in the lower range of the reference interval. MERG indicated reduced paracentral amplitudes and slightly prolonged ITs for the outermost ring. OCT showed attenuated retina in all segments of the macular map, although fundoscopy revealed only slightly irregular pigmentation." "7y" "" "reading problems and photophobia" "" "" "" "" "" "" "" ""
"0000057720" "00420" "00077945" "01695" "Unknown" "" "Stargardt disease; y21, best corrected visual acuity: 20/40, bull\'s eye maculopathy, dark choroid." "21y" "" "0" "" "" "" "" "" "" "" ""
"0000057721" "00420" "00077946" "01695" "Unknown" "" "Stargardt disease; y63, best corrected visual acuity: 20/80, fundus flecks, bull\'s eye maculopathy. y72, best visual acuity: 20/125." "63y" "" "0" "" "" "" "" "" "" "" ""
"0000057722" "00420" "00077947" "01695" "Unknown" "" "Stargardt disease; y23, best corrected visual acuity: 20/25, fundus flecks, bull\'s eye maculopathy. y28, best visual acuity: 20/80." "23y" "" "0" "" "" "" "" "" "" "" ""
"0000057723" "00420" "00077948" "01695" "Unknown" "" "Stargardt disease; y40, best corrected visual acuity: 20/150, fundus flecks, dark choroid." "40y" "" "0" "" "" "" "" "" "" "" ""
"0000057724" "00420" "00077949" "01695" "Unknown" "" "Stargardt disease; y38, best corrected visual acuity: 20/40, fundus flecks." "38y" "" "0" "" "" "" "" "" "" "" ""
"0000057725" "00420" "00077950" "01695" "Unknown" "" "Stargardt disease; y29, best corrected visual acuity: 20/25, fundus flecks. y45, best visual acuity: 20/110." "29y" "" "0" "" "" "" "" "" "" "" ""
"0000057726" "00420" "00077951" "01695" "Unknown" "" "Stargardt disease; y41, best corrected visual acuity: 20/160, fundus flecks." "41y" "" "0" "" "" "" "" "" "" "" ""
"0000057727" "00420" "00077952" "01695" "Unknown" "" "Stargardt disease; y33, best corrected visual acuity: 20/40." "33y" "" "0" "" "" "" "" "" "" "" ""
"0000057728" "00420" "00077953" "01695" "Unknown" "" "Stargardt disease; y26, best corrected visual acuity: 20/30, fundus flecks. y35, best visual acuity: 20/200." "26y" "" "0" "" "" "" "" "" "" "" ""
"0000057729" "00420" "00077954" "01695" "Unknown" "" "Stargardt disease; y15, best corrected visual acuity: 20/60, bull\'s eye maculopathy, dark choroid. y27, best visual acuity: 20/80." "15y" "" "0" "" "" "" "" "" "" "" ""
"0000057730" "00420" "00077955" "01695" "Unknown" "" "Stargardt disease; y56, best corrected visual acuity: 20/200, fundus flecks, dark choroid." "56y" "" "0" "" "" "" "" "" "" "" ""
"0000057731" "00420" "00077956" "01695" "Unknown" "" "Stargardt disease; y25, best corrected visual acuity: 20/20, fundus flecks, dark choroid." "25y" "" "0" "" "" "" "" "" "" "" ""
"0000057732" "00420" "00077957" "01695" "Unknown" "" "Stargardt disease; y12, best corrected visual acuity: 20/90, fundus flecks, bull\'s eye maculopathy, dark choroid. y16, best visual acuity: 20/125." "12y" "" "0" "" "" "" "" "" "" "" ""
"0000057733" "00420" "00077958" "01695" "Unknown" "" "Stargardt disease; y21, best corrected visual acuity: 20/40, bull\'s eye maculopathy, dark choroid." "21y" "" "0" "" "" "" "" "" "" "" ""
"0000057734" "00420" "00077959" "01695" "Unknown" "" "Stargardt disease; y35, best corrected visual acuity: 20/250, fundus flecks, dark choroid." "35y" "" "0" "" "" "" "" "" "" "" ""
"0000057735" "00420" "00077960" "01695" "Unknown" "" "Stargardt disease; y14, best corrected visual acuity: 20/30, fundus flecks, dark choroid." "14y" "" "0" "" "" "" "" "" "" "" ""
"0000057736" "00420" "00077961" "01695" "Unknown" "" "Stargardt disease; y7, best corrected visual acuity: 3/60, fundus flecks. y46, best visual acuity: hand movements, diffuse atrophy." "7y" "" "0" "" "" "" "" "" "" "" ""
"0000057737" "00420" "00077962" "01695" "Unknown" "" "Stargardt disease; y12, best corrected visual acuity: 20/90, fundus flecks, bull\'s eye maculopathy, dark choroid. y16, best visual acuity: 20/125." "12y" "" "0" "" "" "" "" "" "" "" ""
"0000057738" "00420" "00077963" "01695" "Unknown" "" "Stargardt disease; y22, best corrected visual acuity: 6/200, fundus flecks. y49, best visual acuity: light perception, diffuse atrophy." "22y" "" "0" "" "" "" "" "" "" "" ""
"0000057739" "00420" "00077964" "01695" "Unknown" "" "Stargardt disease; y10, best corrected visual acuity: 20/100, bull\'s eye maculopathy." "10y" "" "0" "" "" "" "" "" "" "" ""
"0000057740" "00420" "00077965" "01695" "Unknown" "" "Stargardt disease; y7, best corrected visual acuity: 20/50, bull\'s eye maculopathy, dark choroid." "7y" "" "0" "" "" "" "" "" "" "" ""
"0000057741" "00420" "00077966" "01695" "Unknown" "" "Stargardt disease; y8, best corrected visual acuity: 20/60, fundus flecks, bull\'s eye maculopathy, dark choroid. y10, best visual acuity: 20/60." "8y" "" "0" "" "" "" "" "" "" "" ""
"0000057742" "00420" "00077967" "01695" "Unknown" "" "Stargardt disease; y8, best corrected visual acuity: 20/100, bull\'s eye maculopathy, dark choroid. y10, best visual acuity: 20/200." "8y" "" "0" "" "" "" "" "" "" "" ""
"0000057743" "00420" "00077968" "01695" "Unknown" "" "Stargardt disease; y45, best corrected visual acuity: 20/80, bull\'s eye maculopathy, dark choroid." "45y" "" "0" "" "" "" "" "" "" "" ""
"0000057744" "00420" "00077969" "01695" "Unknown" "" "Stargardt disease; y18, best corrected visual acuity: 20/50, fundus flecks, dark choroid. y22, best visual acuity: 20/65." "18y" "" "0" "" "" "" "" "" "" "" ""
"0000057745" "00420" "00077970" "01695" "Unknown" "" "Stargardt disease; y21, best corrected visual acuity: 20/40, bull\'s eye maculopathy, dark choroid." "21y" "" "0" "" "" "" "" "" "" "" ""
"0000057746" "04214" "00077971" "01695" "Unknown" "" "retinitis pigmentosa; At 30 years of age: Pink optic disc; generalized RPE changes without macular involvement; moderate bone spicules. Best corrected visual acuity: OD 6/6, OS 6/9." "27y" "" "poor night vision, flashing" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000057747" "00420" "00077972" "01695" "Familial, autosomal recessive" "" "Stargardt disease; y13, visual acuity: OD 20/400, OS 20/400. Fundus examination showed some pigment mottling and yellow-white flecks in both maculae. The fluorescein angiogram displayed hyperfluorescent flecks, which extended to the midperipheral retina and fluorescence blocks formed by the pigment mottling in the macula. Multifocal Electroretinogram showed severe depressed central waveform and significant loss of paracentral/peripheral retinal response. The macular OCT showed hyper-reflective deposits within the RPE layer and the level of the outer segments of the photoreceptors, thinning of the retinal outer layers and enhanced choroidal reflectivity." "10y" "" "decreased vision acuity, increasing difficulty to adapt in the dark" "" "" "" "" "" "" "" ""
"0000057748" "00420" "00077973" "01695" "Familial, autosomal recessive" "" "Stargardt disease; y18, visual acuity: OD 20/400, OS 20/400. Fundus examination showed some pigment mottling and yellow-white flecks in both maculae. The fluorescein angiogram displayed hyperfluorescent flecks, which extended to the midperipheral retina and fluorescence blocks formed by the pigment mottling in the macula. Multifocal Electroretinogram showed severe depressed central waveform and significant loss of paracentral/peripheral retinal response. The macular OCT showed hyper-reflective deposits within the RPE layer and the level of the outer segments of the photoreceptors, thinning of the retinal outer layers and enhanced choroidal reflectivity." "10y" "" "decreased vision acuity, increasing difficulty to adapt in the dark" "" "" "" "" "" "" "" ""
"0000057749" "00420" "00077974" "01695" "Unknown" "" "Stargardt disease; y11, OD: visual acuity 0.54, flecks throughout the posterior pole, which often extended anterior to the vascular arcades and/or nasal to the optic disc. OS: visual acuity 0.6, flecks throughout the posterior pole, which often extended anterior to the vascular arcades and/or nasal to the optic disc." "10y" "" "0" "" "" "" "" "" "" "" ""
"0000057750" "00420" "00077975" "01695" "Unknown" "" "Stargardt disease; y7, OD: visual acuity 0.3. OS: visual acuity 0.18, atrophy, and flecks predominantly restricted to the central region around the fovea." "6y" "" "0" "" "" "" "" "" "" "" ""
"0000057751" "00198" "00077976" "01695" "Unknown" "" "Stargardt disease/Bulls-eye maculopathy; y25, OD: visual acuity 0.8, flecks throughout the posterior pole, which often extended anterior to the vascular arcades and/or nasal to the optic disc. OS: visual acuity 0.8, flecks throughout the posterior pole, which often extended anterior to the vascular arcades and/or nasal to the optic disc." "14y" "" "0" "" "" "" "" "" "" "" ""
"0000057752" "00420" "00077977" "01695" "Unknown" "" "Stargardt disease; y11, OD: visual acuity 0.8, atrophy, and flecks predominantly restricted to the central region around the fovea. OS: visual acuity 0.7." "5y" "" "0" "" "" "" "" "" "" "" ""
"0000057753" "00420" "00077978" "01695" "Unknown" "" "Stargardt disease; y35, OD: visual acuity 0.3, atrophy, and flecks predominantly restricted to the central region around the fovea. OS: visual acuity 0.18." "25y" "" "0" "" "" "" "" "" "" "" ""
"0000057754" "00420" "00077979" "01695" "Unknown" "" "Stargardt disease; y35, OD: visual acuity 0.4, atrophy, and flecks predominantly restricted to the central region around the fovea. OS: visual acuity 0.48, atrophy, and flecks predominantly restricted to the central region around the fovea." "25y" "" "0" "" "" "" "" "" "" "" ""
"0000057755" "00420" "00077980" "01695" "Unknown" "" "Stargardt disease; y14, OD: visual acuity 0.6, flecks throughout the posterior pole, which often extended anterior to the vascular arcades and/or nasal to the optic disc. OS: visual acuity 0.6, flecks throughout the posterior pole, which often extended anterior to the vascular arcades and/or nasal to the optic disc." "13y" "" "0" "" "" "" "" "" "" "" ""
"0000057756" "00420" "00077981" "01695" "Unknown" "" "Stargardt disease; y45, OD: visual acuity 1, atrophy, and flecks predominantly restricted to the central region around the fovea. OS: visual acuity 0.88, atrophy, and flecks predominantly restricted to the central region around the fovea." "14y" "" "0" "" "" "" "" "" "" "" ""
"0000057757" "00420" "00077982" "01695" "Unknown" "" "Stargardt disease; y42, OD: visual acuity 0.3. OS: visual acuity CF, atrophy, and flecks predominantly restricted to the central region around the fovea." "37y" "" "0" "" "" "" "" "" "" "" ""
"0000057758" "00420" "00077983" "01695" "Unknown" "" "Stargardt disease; y15, OD: visual acuity 0.8, flecks throughout the posterior pole, which often extended anterior to the vascular arcades and/or nasal to the optic disc. OS: visual acuity 0.8, flecks throughout the posterior pole, which often extended anterior to the vascular arcades and/or nasal to the optic disc." "11y" "" "0" "" "" "" "" "" "" "" ""
"0000057759" "00420" "00077984" "01695" "Unknown" "" "Stargardt disease; y24, OD: visual acuity 0.6, flecks throughout the posterior pole, which often extended anterior to the vascular arcades and/or nasal to the optic disc. OS: visual acuity 0.4, flecks throughout the posterior pole, which often extended anterior to the vascular arcades and/or nasal to the optic disc." "22y" "" "0" "" "" "" "" "" "" "" ""
"0000057760" "00420" "00077985" "01695" "Unknown" "" "Stargardt disease; y46, OD: visual acuity 1.3, atrophy, and flecks predominantly restricted to the central region around the fovea. OS: visual acuity 1.3, atrophy, and flecks predominantly restricted to the central region around the fovea." "31y" "" "0" "" "" "" "" "" "" "" ""
"0000057761" "00420" "00077986" "01695" "Unknown" "" "Stargardt disease; y12, OD: visual acuity 1, flecks throughout the posterior pole, which often extended anterior to the vascular arcades and/or nasal to the optic disc. OS: visual acuity 1." "10y" "" "0" "" "" "" "" "" "" "" ""
"0000057762" "00420" "00077987" "01695" "Unknown" "" "Stargardt disease; y10, OD: visual acuity 1, flecks throughout the posterior pole, which often extended anterior to the vascular arcades and/or nasal to the optic disc. OS: visual acuity 1." "6y" "" "0" "" "" "" "" "" "" "" ""
"0000057763" "00420" "00077988" "01695" "Unknown" "" "Stargardt disease; y27, OD: visual acuity 1.3. OS: visual acuity 1, ‘‘resorbed’’ flecks with widespread atrophy of the RPE." "18y" "" "0" "" "" "" "" "" "" "" ""
"0000057764" "00420" "00077989" "01695" "Unknown" "" "Stargardt disease; y39, OD: visual acuity 0.12. OS: visual acuity 0, atrophy, and flecks predominantly restricted to the central region around the fovea." "31y" "" "0" "" "" "" "" "" "" "" ""
"0000057765" "00420" "00077990" "01695" "Unknown" "" "Stargardt disease; y23, OD: visual acuity 0.88. OS: visual acuity 0.6, flecks throughout the posterior pole, which often extended anterior to the vascular arcades and/or nasal to the optic disc." "19y" "" "0" "" "" "" "" "" "" "" ""
"0000057766" "00420" "00077991" "01695" "Unknown" "" "Stargardt disease; y49, OD: visual acuity 1, atrophy, and flecks predominantly restricted to the central region around the fovea. OS: visual acuity 0.88, atrophy, and flecks predominantly restricted to the central region around the fovea." "32y" "" "0" "" "" "" "" "" "" "" ""
"0000057767" "00420" "00077992" "01695" "Unknown" "" "Stargardt disease; y46, OD: visual acuity 0.1, atrophy, and flecks predominantly restricted to the central region around the fovea. OS: visual acuity 0.48, atrophy, and flecks predominantly restricted to the central region around the fovea." "39y" "" "0" "" "" "" "" "" "" "" ""
"0000057768" "00420" "00077993" "01695" "Unknown" "" "Stargardt disease; y27, OD: visual acuity 0.88, ‘‘resorbed’’ flecks with widespread atrophy of the RPE. OS: visual acuity 0.88, ‘‘resorbed’’ flecks with widespread atrophy of the RPE." "13y" "" "0" "" "" "" "" "" "" "" ""
"0000057769" "00420" "00077994" "01695" "Unknown" "" "Stargardt disease; y29, OD: visual acuity 1.3, ‘‘resorbed’’ flecks with widespread atrophy of the RPE. OS: visual acuity 1.18, ‘‘resorbed’’ flecks with widespread atrophy of the RPE." "10y" "" "0" "" "" "" "" "" "" "" ""
"0000057770" "00420" "00077995" "01695" "Unknown" "" "Stargardt disease; y22, OD: visual acuity 1.3, ‘‘resorbed’’ flecks with widespread atrophy of the RPE. OS: visual acuity 1, ‘‘resorbed’’ flecks with widespread atrophy of the RPE." "4y" "" "0" "" "" "" "" "" "" "" ""
"0000057771" "00420" "00077996" "01695" "Unknown" "" "Stargardt disease; y33, OD: visual acuity 0.88, atrophy, and flecks predominantly restricted to the central region around the fovea. OS: visual acuity 0.7, atrophy, and flecks predominantly restricted to the central region around the fovea." "28y" "" "0" "" "" "" "" "" "" "" ""
"0000057772" "00420" "00077997" "01695" "Unknown" "" "Stargardt disease; y26, OD: visual acuity 0.6. OS: visual acuity 0.6, atrophy, and flecks predominantly restricted to the central region around the fovea." "14y" "" "0" "" "" "" "" "" "" "" ""
"0000057773" "00420" "00077998" "01695" "Unknown" "" "Stargardt disease; y45, OD: visual acuity 0.88, atrophy, and flecks predominantly restricted to the central region around the fovea. OS: visual acuity 0.88, atrophy, and flecks predominantly restricted to the central region around the fovea." "14y" "" "0" "" "" "" "" "" "" "" ""
"0000057774" "00420" "00077999" "01695" "Unknown" "" "Stargardt disease; y43, OD: visual acuity 1. OS: visual acuity 0, ‘‘resorbed’’ flecks with widespread atrophy of the RPE." "36y" "" "0" "" "" "" "" "" "" "" ""
"0000057775" "00420" "00078000" "01695" "Unknown" "" "Stargardt disease; y41, OD: visual acuity 0.1, flecks throughout the posterior pole, which often extended anterior to the vascular arcades and/or nasal to the optic disc. OS: visual acuity CF, flecks throughout the posterior pole, which often extended anterior to the vascular arcades and/or nasal to the optic disc." "40y" "" "0" "" "" "" "" "" "" "" ""
"0000057776" "00420" "00078001" "01695" "Unknown" "" "Stargardt disease; y19, OD: visual acuity 0.6, atrophy, and flecks predominantly restricted to the central region around the fovea. OS: visual acuity 0.7." "15y" "" "0" "" "" "" "" "" "" "" ""
"0000057777" "00420" "00078002" "01695" "Unknown" "" "Stargardt disease; y23, OD: visual acuity 0.88. OS: visual acuity 0.8, atrophy, and flecks predominantly restricted to the central region around the fovea; y22.9: visual acuity OD 0.88logMAR, OS 0.8logMAR. Presence of central atrophy, mottling, and/or macular flecks in fundus AF (488-nm excitation) images. Patients included in this cohort were (1) those presenting with fundus features that could be observed in both confirmed ABCA4-associated disease and in patients considered to carry the PD phenotype (central lesion with jagged border, butterfly-shaped lesion in the macula); (2) patients with a phenotype having some features that were atypical for ABCA4-associated STGD1 (no peripapillary sparing; atypical size, shape, and distribution of flecks); and (3) patients in whom ABCA4 mutations were not detected despite ABCA4-like fundus features but in whom additional genetic screening revealed PRPH2/RDS mutations." "19y" "" "0" "" "" "" "" "" "" "" ""
"0000057778" "00420" "00078003" "01695" "Unknown" "" "Stargardt disease; y52, OD: visual acuity 0.7, atrophy, and flecks predominantly restricted to the central region around the fovea. OS: visual acuity 0.48." "51y" "" "0" "" "" "" "" "" "" "" ""
"0000057779" "00420" "00078004" "01695" "Unknown" "" "Stargardt disease; y52, OD: visual acuity 1. OS: visual acuity 1, atrophy, and flecks predominantly restricted to the central region around the fovea." "39y" "" "0" "" "" "" "" "" "" "" ""
"0000057780" "00420" "00078005" "01695" "Unknown" "" "Stargardt disease; y20, OD: visual acuity 0.3, atrophy, and flecks predominantly restricted to the central region around the fovea. OS: visual acuity 0.4." "15y" "" "0" "" "" "" "" "" "" "" ""
"0000057781" "00420" "00078006" "01695" "Unknown" "" "Stargardt disease; y23, OD: visual acuity 1, atrophy, and flecks predominantly restricted to the central region around the fovea. OS: visual acuity 1, atrophy, and flecks predominantly restricted to the central region around the fovea." "16y" "" "0" "" "" "" "" "" "" "" ""
"0000057782" "00420" "00078007" "01695" "Unknown" "" "Stargardt disease; y44, OD: visual acuity 0.7. OS: visual acuity 0.7, flecks throughout the posterior pole, which often extended anterior to the vascular arcades and/or nasal to the optic disc." "18y" "" "0" "" "" "" "" "" "" "" ""
"0000057783" "00420" "00078008" "01695" "Unknown" "" "Stargardt disease; y12, OD: visual acuity 0.4, atrophy, and flecks predominantly restricted to the central region around the fovea. OS: visual acuity 0.4." "4y" "" "0" "" "" "" "" "" "" "" ""
"0000057784" "00420" "00078009" "01695" "Unknown" "" "Stargardt disease; y47, OD: visual acuity 0.4, atrophy, and flecks predominantly restricted to the central region around the fovea. OS: visual acuity 0.4." "43y" "" "0" "" "" "" "" "" "" "" ""
"0000057785" "00420" "00078010" "01695" "Unknown" "" "Stargardt disease; y19, OD: visual acuity 0.7, flecks throughout the posterior pole, which often extended anterior to the vascular arcades and/or nasal to the optic disc. OS: visual acuity 0.48, flecks throughout the posterior pole, which often extended anterior to the vascular arcades and/or nasal to the optic disc." "16y" "" "0" "" "" "" "" "" "" "" ""
"0000057786" "00420" "00078011" "01695" "Unknown" "" "Stargardt disease; y20, OD: visual acuity 0.88, flecks throughout the posterior pole, which often extended anterior to the vascular arcades and/or nasal to the optic disc. OS: visual acuity 1, flecks throughout the posterior pole, which often extended anterior to the vascular arcades and/or nasal to the optic disc." "13y" "" "0" "" "" "" "" "" "" "" ""
"0000057787" "00198" "00078012" "01695" "Unknown" "" "Stargardt disease/Bulls-eye maculopathy; y12, OD: visual acuity 0.8, atrophy, and flecks predominantly restricted to the central region around the fovea. OS: visual acuity 0.8, atrophy, and flecks predominantly restricted to the central region around the fovea; y13: localized macular lesion exhibiting a smooth contour and qualitatively normal-appearing surrounding retina without flecks and visual acuity of 1.3 OD, 1 OS." "9y" "" "0" "" "" "" "" "" "" "" ""
"0000057788" "00420" "00078013" "01695" "Isolated (sporadic)" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057789" "00420" "00078014" "01695" "Isolated (sporadic)" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057790" "00420" "00078015" "01695" "Familial, autosomal recessive" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057791" "00420" "00078016" "01695" "Isolated (sporadic)" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057792" "00420" "00078017" "01695" "Isolated (sporadic)" "" "Stargardt disease; y22 visual acuity was 0.88 OD and 0.88 OS." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057793" "00420" "00078018" "01695" "Isolated (sporadic)" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057794" "00198" "00078019" "01695" "Unknown" "" "Stargardt disease/Bulls-eye maculopathy; y22, OD: visual acuity 20/40, An apparent thinning of the outer nuclear layer (ONL) of the macula was present. However, a relative sparing of laminar structure was noted. Distinctive structural breaks in the EZ band and degradation of photoreceptors in the foveal outer retina were observed on SD-OCT. Photoreceptor debris and remnants of the ellipsoid were present in the gap while the RPE and external limiting membrane were intact, OS: visual acuity 20/50, An apparent thinning of the outer nuclear layer (ONL) of the macula was present. However, a relative sparing of laminar structure was noted. Distinctive structural breaks in the EZ band and degradation of photoreceptors in the foveal outer retina were observed on SD-OCT. Photoreceptor debris and remnants of the ellipsoid were present in the gap while the RPE and external limiting membrane were intact; y20: localized macular lesion exhibiting a smooth contour and qualitatively normal-appearing surrounding retina without flecks and visual acuity of 0.3 OD, 0.4 OS." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057795" "00198" "00078020" "01695" "Unknown" "" "Stargardt disease/Bulls-eye maculopathy; y25, OD: visual acuity 20/40, An apparent thinning of the outer nuclear layer (ONL) of the macula was present. However, a relative sparing of laminar structure was noted. Distinctive structural breaks in the EZ band and degradation of photoreceptors in the foveal outer retina were observed on SD-OCT. Photoreceptor debris and remnants of the ellipsoid were present in the gap while the RPE and external limiting membrane were intact, OS: visual acuity 20/30, An apparent thinning of the outer nuclear layer (ONL) of the macula was present. However, a relative sparing of laminar structure was noted. Distinctive structural breaks in the EZ band and degradation of photoreceptors in the foveal outer retina were observed on SD-OCT. Photoreceptor debris and remnants of the ellipsoid were present in the gap while the RPE and external limiting membrane were intact; y24: localized macular lesion exhibiting a smooth contour and qualitatively normal-appearing surrounding retina without flecks and visual acuity of 0.3 OD, 0.18 OS." "24y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057796" "00420" "00078021" "01695" "Unknown" "" "Stargardt disease; y30, OD: visual acuity 20/30, An apparent thinning of the outer nuclear layer (ONL) of the macula was present. However, a relative sparing of laminar structure was noted. Distinctive structural breaks in the EZ band and degradation of photoreceptors in the foveal outer retina were observed on SD-OCT. Photoreceptor debris and remnants of the ellipsoid were present in the gap while the RPE and external limiting membrane were intact, OS: visual acuity 20/30, An apparent thinning of the outer nuclear layer (ONL) of the macula was present. However, a relative sparing of laminar structure was noted. Distinctive structural breaks in the EZ band and degradation of photoreceptors in the foveal outer retina were observed on SD-OCT. Photoreceptor debris and remnants of the ellipsoid were present in the gap while the RPE and external limiting membrane were intact." "25y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057797" "00420" "00078022" "01695" "Unknown" "" "Stargardt disease; y30, OD: visual acuity 20/25, An apparent thinning of the outer nuclear layer (ONL) of the macula was present. However, a relative sparing of laminar structure was noted. Distinctive structural breaks in the EZ band and degradation of photoreceptors in the foveal outer retina were observed on SD-OCT. Photoreceptor debris and remnants of the ellipsoid were present in the gap while the RPE and external limiting membrane were intact, OS: visual acuity 20/25, An apparent thinning of the outer nuclear layer (ONL) of the macula was present. However, a relative sparing of laminar structure was noted. Distinctive structural breaks in the EZ band and degradation of photoreceptors in the foveal outer retina were observed on SD-OCT. Photoreceptor debris and remnants of the ellipsoid were present in the gap while the RPE and external limiting membrane were intact." "25y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057798" "00420" "00078023" "01695" "Unknown" "" "Stargardt disease; y18, OD: visual acuity 20/60, A structural collapse of the inner retinal layers into the vacant ellipsoid space can be observed with residual spaces along the edge of the previously occupied gap lesion in two patients. The collapsed layers including the ELM ad subsequent inner retinal layers appeared to be present but structurally frail, OS: visual acuity 20/60." "14y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057799" "00420" "00078024" "01695" "Unknown" "" "Stargardt disease; y24, OD: visual acuity 20/150, A widened empty cavity characterized by a total absence of the EZ band was observed across the fovea on SD-OCT in some patients. Some granular deposits of residual debris were visibly attached to the concavely arched ELM of the lesion. The increased reflectivity of the ELM above the cavitation was seen in some cases. A relatively larger, horizontally-elongated lesion resembling an elliptical bull’s eye lesion within a hyperautofluorescent halo was observed on AF imaging in some patients, OS: visual acuity 20/150, A widened empty cavity characterized by a total absence of the EZ band was observed across the fovea on SD-OCT in some patients. Some granular deposits of residual debris were visibly attached to the concavely arched ELM of the lesion. The increased reflectivity of the ELM above the cavitation was seen in some cases. A relatively larger, horizontally-elongated lesion resembling an elliptical bull’s eye lesion within a hyperautofluorescent halo was observed on AF imaging in some patients." "14y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057800" "00420" "00078025" "01695" "Unknown" "" "Stargardt disease; y22, OD: visual acuity 20/100, A widened empty cavity characterized by a total absence of the EZ band was observed across the fovea on SD-OCT in some patients. Some granular deposits of residual debris were visibly attached to the concavely arched ELM of the lesion. The increased reflectivity of the ELM above the cavitation was seen in some cases. A relatively larger, horizontally-elongated lesion resembling an elliptical bull’s eye lesion within a hyperautofluorescent halo was observed on AF imaging in some patients, OS: visual acuity 20/100, A widened empty cavity characterized by a total absence of the EZ band was observed across the fovea on SD-OCT in some patients. Some granular deposits of residual debris were visibly attached to the concavely arched ELM of the lesion. The increased reflectivity of the ELM above the cavitation was seen in some cases. A relatively larger, horizontally-elongated lesion resembling an elliptical bull’s eye lesion within a hyperautofluorescent halo was observed on AF imaging in some patients." "17y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057801" "00420" "00078026" "01695" "Unknown" "" "Stargardt disease; y19, OD: visual acuity 20/80, A widened empty cavity characterized by a total absence of the EZ band was observed across the fovea on SD-OCT in some patients. Some granular deposits of residual debris were visibly attached to the concavely arched ELM of the lesion. The increased reflectivity of the ELM above the cavitation was seen in some cases. A relatively larger, horizontally-elongated lesion resembling an elliptical bull’s eye lesion within a hyperautofluorescent halo was observed on AF imaging in some patients, OS: visual acuity 20/80, A widened empty cavity characterized by a total absence of the EZ band was observed across the fovea on SD-OCT in some patients. Some granular deposits of residual debris were visibly attached to the concavely arched ELM of the lesion. The increased reflectivity of the ELM above the cavitation was seen in some cases. A relatively larger, horizontally-elongated lesion resembling an elliptical bull’s eye lesion within a hyperautofluorescent halo was observed on AF imaging in some patients." "15y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057802" "00198" "00078027" "01695" "Unknown" "" "Bulls-eye maculopathy; Stargardt disease; y25, OD: visual acuity 20/100, An apparent thinning of the outer nuclear layer (ONL) of the macula was present. However, a relative sparing of laminar structure was noted. Distinctive structural breaks in the EZ band and degradation of photoreceptors in the foveal outer retina were observed on SD-OCT. Photoreceptor debris and remnants of the ellipsoid were present in the gap while the RPE and external limiting membrane were intact, OS: visual acuity 20/150, A widened empty cavity characterized by a total absence of the EZ band was observed across the fovea on SD-OCT in some patients. Some granular deposits of residual debris were visibly attached to the concavely arched ELM of the lesion. The increased reflectivity of the ELM above the cavitation was seen in some cases. A relatively larger, horizontally-elongated lesion resembling an elliptical bull’s eye lesion within a hyperautofluorescent halo was observed on AF imaging in some patients." "15y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057803" "00420" "00078028" "01695" "Unknown" "" "Stargardt disease; y23, OD: visual acuity 20/40, An apparent thinning of the outer nuclear layer (ONL) of the macula was present. However, a relative sparing of laminar structure was noted. Distinctive structural breaks in the EZ band and degradation of photoreceptors in the foveal outer retina were observed on SD-OCT. Photoreceptor debris and remnants of the ellipsoid were present in the gap while the RPE and external limiting membrane were intact, OS: visual acuity 20/30, A widened empty cavity characterized by a total absence of the EZ band was observed across the fovea on SD-OCT in some patients. Some granular deposits of residual debris were visibly attached to the concavely arched ELM of the lesion. The increased reflectivity of the ELM above the cavitation was seen in some cases. A relatively larger, horizontally-elongated lesion resembling an elliptical bull’s eye lesion within a hyperautofluorescent halo was observed on AF imaging in some patients." "18y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057804" "00420" "00078029" "01695" "Unknown" "" "Stargardt disease; y23, OD: visual acuity 20/40, An apparent thinning of the outer nuclear layer (ONL) of the macula was present. However, a relative sparing of laminar structure was noted. Distinctive structural breaks in the EZ band and degradation of photoreceptors in the foveal outer retina were observed on SD-OCT. Photoreceptor debris and remnants of the ellipsoid were present in the gap while the RPE and external limiting membrane were intact, OS: visual acuity 20/30, A widened empty cavity characterized by a total absence of the EZ band was observed across the fovea on SD-OCT in some patients. Some granular deposits of residual debris were visibly attached to the concavely arched ELM of the lesion. The increased reflectivity of the ELM above the cavitation was seen in some cases. A relatively larger, horizontally-elongated lesion resembling an elliptical bull’s eye lesion within a hyperautofluorescent halo was observed on AF imaging in some patients." "22y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057805" "00420" "00078030" "01695" "Unknown" "" "Stargardt disease; y22, OD: visual acuity 20/50, A structural collapse of the inner retinal layers into the vacant ellipsoid space can be observed with residual spaces along the edge of the previously occupied gap lesion in two patients. The collapsed layers including the ELM and subsequent inner retinal layers appeared to be present but structurally frail, OS: visual acuity 20/70, A widened empty cavity characterized by a total absence of the EZ band was observed across the fovea on SD-OCT in some patients. Some granular deposits of residual debris were visibly attached to the concavely arched ELM of the lesion. The increased reflectivity of the ELM above the cavitation was seen in some cases. A relatively larger, horizontally-elongated lesion resembling an elliptical bull’s eye lesion within a hyperautofluorescent halo was observed on AF imaging in some patients." "21y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057806" "00198" "00078031" "01695" "Unknown" "" "Stargardt disease/Bulls-eye maculopathy; y12, OD: visual acuity 20/50, A widened empty cavity characterized by a total absence of the EZ band was observed across the fovea on SD-OCT in some patients. Some granular deposits of residual debris were visibly attached to the concavely arched ELM of the lesion. The increased reflectivity of the ELM above the cavitation was seen in some cases. A relatively larger, horizontally-elongated lesion resembling an elliptical bull’s eye lesion within a hyperautofluorescent halo was observed on AF imaging in some patients, OS: visual acuity 20/50, A widened empty cavity characterized by a total absence of the EZ band was observed across the fovea on SD-OCT in some patients. Some granular deposits of residual debris were visibly attached to the concavely arched ELM of the lesion. The increased reflectivity of the ELM above the cavitation was seen in some cases. A relatively larger, horizontally-elongated lesion resembling an elliptical bull’s eye lesion within a hyperautofluorescent halo was observed on AF imaging in some patients; y11: localized macular lesion exhibiting a smooth contour and qualitatively normal-appearing surrounding retina without flecks and visual acuity of 0.4 OD, 0.4 OS." "10y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057807" "00420" "00078032" "01695" "Unknown" "" "Stargardt disease; y30, OD: visual acuity 20/100, A widened empty cavity characterized by a total absence of the EZ band was observed across the fovea on SD-OCT in some patients. Some granular deposits of residual debris were visibly attached to the concavely arched ELM of the lesion. The increased reflectivity of the ELM above the cavitation was seen in some cases. A relatively larger, horizontally-elongated lesion resembling an elliptical bull’s eye lesion within a hyperautofluorescent halo was observed on AF imaging in some patients, OS: visual acuity 20/100, A widened empty cavity characterized by a total absence of the EZ band was observed across the fovea on SD-OCT in some patients. Some granular deposits of residual debris were visibly attached to the concavely arched ELM of the lesion. The increased reflectivity of the ELM above the cavitation was seen in some cases. A relatively larger, horizontally-elongated lesion resembling an elliptical bull’s eye lesion within a hyperautofluorescent halo was observed on AF imaging in some patients./A structural collapse of the inner retinal layers into the vacant ellipsoid space can be observed with residual spaces along the edge of the previously occupied gap lesion in two patients. The collapsed layers including the ELM and subsequent inner retinal layers appeared to be present but structurally frail. /Atrophy/A horizontally elongated lesion of hypoautofluorescence is seen." "25y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057808" "00420" "00078033" "01695" "Unknown" "" "Stargardt disease; y28, OD: visual acuity 20/30, A structural collapse of the inner retinal layers into the vacant ellipsoid space can be observed with residual spaces along the edge of the previously occupied gap lesion in two patients. The collapsed layers including the ELM and subsequent inner retinal layers appeared to be present but structurally frail, OS: visual acuity 20/30, A structural collapse of the inner retinal layers into the vacant ellipsoid space can be observed with residual spaces along the edge of the previously occupied gap lesion in two patients. The collapsed layers including the ELM and subsequent inner retinal layers appeared to be present but structurally frail. /Atrophy/Hypoautofluorescent lesion with preserved AF over the center." "26y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057809" "00420" "00078034" "01695" "Unknown" "" "Stargardt disease; y34, visual acuity OD 20/150, OS 20/100, bull\'s eye maculopathy." "21y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057810" "00420" "00078035" "01695" "Unknown" "" "Stargardt disease; y43, visual acuity OD 20/200, OS 20/200, bull\'s eye maculopathy." "17y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057811" "00420" "00078036" "01695" "Unknown" "" "Stargardt disease; y65, bull\'s eye maculopathy." "55y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057812" "00420" "00078037" "01695" "Unknown" "" "Stargardt disease; y20, visual acuity OD 20/50, OS 20/80, bull\'s eye maculopathy." "20y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057813" "00420" "00078038" "01695" "Unknown" "" "Stargardt disease; y9, visual acuity OD 20/150, OS 20/150, bull\'s eye maculopathy." "8y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057814" "00420" "00078039" "01695" "Unknown" "" "Stargardt disease; y18, visual acuity OD 20/40, OS 20/150, bull\'s eye maculopathy." "15y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057815" "00420" "00078040" "01695" "Unknown" "" "Stargardt disease; y41, visual acuity OD 20/150, OS 20/150." "21y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057816" "00420" "00078041" "01695" "Unknown" "" "Stargardt disease; y5, visual acuity OD 20/30, OS 20/40." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057817" "00420" "00078042" "01695" "Unknown" "" "Stargardt disease; y30, visual acuity OD 20/125, OS 20/125, bull\'s eye maculopathy." "15y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057818" "00198" "00078043" "01695" "Unknown" "" "Stargardt disease/Bulls-eye maculopathy; y17, visual acuity OD 20/40, OS 20/100, bull\'s eye maculopathy." "14y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057819" "00198" "00078044" "01695" "Unknown" "" "Stargardt disease/Bulls-eye maculopathy; y21, visual acuity OD 20/150, OS 20/150, bull\'s eye maculopathy; y21: localized macular lesion exhibiting a smooth contour and qualitatively normal-appearing surrounding retina without flecks and visual acuity of 0.88 OD, 0.88 OS." "12y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057820" "00420" "00078045" "01695" "Unknown" "" "Stargardt disease; y65, visual acuity OD 20/200, OS 20/200." "32y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057821" "00420" "00078046" "01695" "Unknown" "" "Stargardt disease; y45, visual acuity OD 20/60, OS 20/60, bull\'s eye maculopathy." "14y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057822" "00420" "00078047" "01695" "Unknown" "" "Stargardt disease; y23, visual acuity OD 20/150, OS 20/40, bull\'s eye maculopathy." "16y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057823" "00420" "00078048" "01695" "Unknown" "" "Stargardt disease; y68, visual acuity OD 20/40, OS 20/150." "43y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057824" "00198" "00078049" "01695" "Unknown" "" "Stargardt disease/Bulls-eye maculopathy; y16, visual acuity OD 20/80, OS 20/100, bull\'s eye maculopathy." "12y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057825" "00420" "00078050" "01695" "Unknown" "" "Stargardt disease; y34, visual acuity OD 20/400, OS 20/400, bull\'s eye maculopathy." "18y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057826" "00420" "00078051" "01695" "Unknown" "" "Stargardt disease; y25, visual acuity OD 20/20, OS 20/20, bull\'s eye maculopathy." "24y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057827" "00420" "00078052" "01695" "Unknown" "" "Stargardt disease; y45, visual acuity OD 20/125, OS 20/125." "10y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057828" "00420" "00078053" "01695" "Unknown" "" "Stargardt disease; y78, visual acuity OD 20/400, OS 20/400." "20y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057829" "00420" "00078054" "01695" "Unknown" "" "Stargardt disease; y22, visual acuity OD 20/100, OS 20/60, bull\'s eye maculopathy." "21y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057830" "00420" "00078055" "01695" "Unknown" "" "Stargardt disease; y44, bull\'s eye maculopathy." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057831" "00420" "00078056" "01695" "Unknown" "" "Stargardt disease; y76, visual acuity OD 20/400, OS 20/400." "19y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057832" "00420" "00078057" "01695" "Unknown" "" "Stargardt disease; y49, visual acuity OD 20/200, OS 20/150." "13y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057833" "00198" "00078058" "01695" "Unknown" "" "Stargardt disease/Bulls-eye maculopathy; y25, visual acuity OD 20/20, OS 20/40, bull\'s eye maculopathy." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057834" "00420" "00078059" "01695" "Unknown" "" "Stargardt disease; y73, visual acuity OD 20/400, OS 20/40, bull\'s eye maculopathy." "2y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057835" "00420" "00078060" "01695" "Unknown" "" "Stargardt disease; y71, bull\'s eye maculopathy." "10y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057836" "00420" "00078061" "01695" "Unknown" "" "Stargardt disease; y32, visual acuity OD 20/200, OS 20/150, bull\'s eye maculopathy." "13y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057837" "00420" "00078062" "01695" "Unknown" "" "Stargardt disease; y60, visual acuity OD 20/40, OS 20/50, bull\'s eye maculopathy." "39y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057838" "00420" "00078063" "01695" "Familial, autosomal recessive" "" "Stargardt disease, severe; y46, visual acuity OD: <20/400, OS: <20/400. y31: Severe chorioretinal atrophy, macula up to periphery; macula most affected." "7y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057839" "00198" "00078064" "01695" "Familial, autosomal recessive" "" "unknown" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057840" "00198" "00078065" "01695" "Familial, autosomal recessive" "" "unknown" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057841" "00420" "00078066" "01695" "Isolated (sporadic)" "" "Stargardt disease, severe; y33, visual acuity OD: 20/400, OS: 20/400. y41: Severe maculopathy with chorioretinal atrophy beyond the vascular arcades and nasal to optic disc; lipofuscin containing flecks up to far periphery, intraretinal pigment migration." "7y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057842" "00420" "00078067" "01695" "Isolated (sporadic)" "" "Stargardt disease, moderate/severe; y17, visual acuity OD: 40/200, OS: 40/200. y9: Beaten-bronze maculopathy with fine lipofuscin containing flecks, alternating with atrophic flecks." "6y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057843" "00420" "00078068" "01695" "Familial, autosomal recessive" "" "Stargardt disease, severe; y76, visual acuity OD: <20/400, OS: <20/400. y70: Severe chorioretinal atrophy, macula up to periphery; macula most affected." "10y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057844" "00420" "00078069" "01695" "Familial, autosomal recessive" "" "Stargardt disease, severe; y18, visual acuity OD: 20/400, OS: 20/200. y17: Severe maculopathy with early onset flecks up to far periphery, rapidly evolving to atrophy; midperipheral patchy RPE hyperplasia. Severe cone-rod dystrophy." "8y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057845" "00198" "00078070" "01695" "Isolated (sporadic)" "" "unknown" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057846" "00198" "00078071" "01695" "Isolated (sporadic)" "" "unknown" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057847" "00420" "00078072" "01695" "Isolated (sporadic)" "" "Stargardt disease, moderate; y19, visual acuity OD: 20/400, OS: 20/200. y18: Moderate maculopathy with lipofuscin containing flecks throughout macula but within temporal vascular arcades and immediately nasal to optic disc Moderate cone-rod dystrophy." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057848" "00420" "00078073" "01695" "Isolated (sporadic)" "" "Stargardt disease, severe; y47, visual acuity OD: 20/400, OS: 20/400. y44: Severe maculopathy with fleck-like chorioretinal atrophy up to far periphery. Severe cone-rod dystrophy." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057849" "00420" "00078074" "01695" "Isolated (sporadic)" "" "Stargardt disease, severe; y45, visual acuity OD: 20/400, OS: 20/400. y40: Severe maculopathy with intraretinal pigment migration in macula and with fleck-like chorioretinal atrophy up to far periphery." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057850" "00420" "00078075" "01695" "Isolated (sporadic)" "" "Stargardt disease, severe; y50, visual acuity OD: 40/200, OS: 40/200. y48: Severe central maculopathy with beaten-bronze aspect and limited number of lipofuscin containing flecks, all within central macula ." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057851" "00420" "00078076" "01695" "Familial, autosomal recessive" "" "Stargardt disease, severe; y37, visual acuity OD: 20/400, OS: 20/400. y36: Severe chorioretinal atrophy, macula up to periphery; macula most affected with intraretinal pigment migration in retina and pigment hyperplasia and subretinal fibrosis." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057852" "00198" "00078077" "01695" "Familial, autosomal recessive" "" "unknown" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057853" "00420" "00078078" "01695" "Isolated (sporadic)" "" "Stargardt disease, moderate; y69, visual acuity OD: 20/400, OS: <20/400. y67: Total macular atrophy; typical flecks up to far periphery ." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057854" "00420" "00078079" "01695" "Isolated (sporadic)" "" "Stargardt disease, moderate/severe; y40, visual acuity OD: 20/200, OS: 20/400. y39: Severe macular atrophy with flecks up to the mid periphery. Mild cone-rod dystrophy." "18y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057855" "00420" "00078080" "01695" "Isolated (sporadic)" "" "Stargardt disease, mild, late onset; y60, visual acuity OD: 140/200, OS: 140/200. y59: Mild phenotype with lipofuscin containing flecks around fovea and within temporal vascular arcades and immediately nasal to optic disc." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057856" "00420" "00078081" "01695" "Isolated (sporadic)" "" "Stargardt disease, mild; y36, visual acuity OD: 60/200, OS: 60/200. y28: Mild maculopathy, small lipofuscin containing flecks; limited to central macular area ." "19y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057857" "00420" "00078082" "01695" "Isolated (sporadic)" "" "Stargardt disease, mild; y38, visual acuity OD: 40/200, OS: 40/200. y35: Mild beaten-bronze maculopathy with lipofuscin containing flecks in central macula and relative foveal sparing." "14y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057858" "00420" "00078083" "01695" "Isolated (sporadic)" "" "Stargardt disease, severe; y14, visual acuity OD: 60/200, OS: 60/200. y13: Severe beaten-bronze maculopathy with lipofuscin containing flecks from macula up to mid periphery." "7y" "" "unknown" "" "" "" "" "" "" "" ""
"0000057859" "04249" "00078084" "01695" "Unknown" "" "macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057860" "04249" "00078085" "01695" "Unknown" "" "macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057861" "04249" "00078086" "01695" "Unknown" "" "macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057862" "04249" "00078087" "01695" "Unknown" "" "macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057863" "04249" "00078088" "01695" "Unknown" "" "macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057864" "04249" "00078089" "01695" "Unknown" "" "macular dystrophy" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057865" "00420" "00078090" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057866" "00420" "00078091" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057867" "00420" "00078092" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057868" "00420" "00078093" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057869" "00420" "00078094" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057870" "00420" "00078095" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057871" "00420" "00078096" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057872" "00420" "00078097" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057873" "00420" "00078098" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057874" "00420" "00078099" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057875" "00420" "00078100" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057876" "00420" "00078101" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057877" "00420" "00078102" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057878" "00420" "00078103" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057879" "00420" "00078104" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057880" "00420" "00078105" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057881" "00420" "00078106" "01695" "Unknown" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057882" "00058" "00078107" "01695" "Unknown" "" "cone-rod dystrophy (HP:0000510)" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057883" "00058" "00078108" "01695" "Unknown" "" "cone-rod dystrophy (HP:0000510)" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057884" "00058" "00078109" "01695" "Unknown" "" "cone-rod dystrophy (HP:0000510)" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057885" "00058" "00078110" "01695" "Unknown" "" "cone-rod dystrophy (HP:0000510)" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057886" "00058" "00078111" "01695" "Unknown" "" "cone-rod dystrophy (HP:0000510)" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057887" "00058" "00078112" "01695" "Unknown" "" "cone-rod dystrophy (HP:0000510)" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057888" "00058" "00078113" "01695" "Unknown" "" "cone-rod dystrophy (HP:0000510)" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057889" "00058" "00078114" "01695" "Unknown" "" "cone-rod dystrophy (HP:0000510)" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057890" "00058" "00078115" "01695" "Unknown" "" "cone-rod dystrophy (HP:0000510)" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057891" "00058" "00078116" "01695" "Unknown" "" "cone-rod dystrophy (HP:0000510)" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057892" "00058" "00078117" "01695" "Unknown" "" "cone-rod dystrophy (HP:0000510)" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057893" "00058" "00078118" "01695" "Unknown" "" "cone-rod dystrophy (HP:0000510)" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057894" "04213" "00078119" "01695" "Unknown" "" "cone dystrophy (HP:0000548)" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057895" "04213" "00078120" "01695" "Unknown" "" "cone dystrophy (HP:0000548)" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057896" "04213" "00078121" "01695" "Unknown" "" "cone dystrophy (HP:0000548)" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057897" "04213" "00078122" "01695" "Unknown" "" "cone dystrophy (HP:0000548)" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057898" "04214" "00078123" "01695" "Unknown" "" "retinitis pigmentosa" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000057899" "04214" "00078124" "01695" "Unknown" "" "retinitis pigmentosa" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000057900" "04214" "00078125" "01695" "Unknown" "" "retinitis pigmentosa" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000057901" "00420" "00078126" "01695" "Unknown" "" "Stargardt disease; y18, best corrected visual acuity: 20/40, flecks, dark choroid." "7y" "" "first symptoms or first visit to an ophthalmologist" "" "" "" "" "" "" "" ""
"0000057902" "00420" "00078127" "01695" "Unknown" "" "Stargardt disease; y14, best corrected visual acuity: 20/155, flecks." "8y" "" "first symptoms or first visit to an ophthalmologist" "" "" "" "" "" "" "" ""
"0000057903" "00420" "00078128" "01695" "Unknown" "" "Stargardt disease; y17, best corrected visual acuity: count fingers, flecks, dark choroid." "6y" "" "first symptoms or first visit to an ophthalmologist" "" "" "" "" "" "" "" ""
"0000057904" "00420" "00078129" "01695" "Unknown" "" "Stargardt disease; y8, best corrected visual acuity: 20/32, flecks, dark choroid." "6y" "" "first symptoms or first visit to an ophthalmologist" "" "" "" "" "" "" "" ""
"0000057905" "00420" "00078130" "01695" "Unknown" "" "Stargardt disease; y57, best corrected visual acuity: hand movement, flecks, dark choroid." "6y" "" "first symptoms or first visit to an ophthalmologist" "" "" "" "" "" "" "" ""
"0000057906" "00420" "00078131" "01695" "Unknown" "" "Stargardt disease; y10, best corrected visual acuity: 20/50, flecks, dark choroid." "9y" "" "first symptoms or first visit to an ophthalmologist" "" "" "" "" "" "" "" ""
"0000057907" "00420" "00078132" "01695" "Unknown" "" "Stargardt disease; y40, best corrected visual acuity: 20/400, flecks." "6y" "" "first symptoms or first visit to an ophthalmologist" "" "" "" "" "" "" "" ""
"0000057908" "00420" "00078133" "01695" "Unknown" "" "Stargardt disease; y35, best corrected visual acuity: count fingers, flecks, dark choroid." "4y" "" "first symptoms or first visit to an ophthalmologist" "" "" "" "" "" "" "" ""
"0000057909" "00420" "00078134" "01695" "Unknown" "" "Stargardt disease; y25, best corrected visual acuity: count fingers, flecks, dark choroid." "9y" "" "first symptoms or first visit to an ophthalmologist" "" "" "" "" "" "" "" ""
"0000057910" "00420" "00078135" "01695" "Unknown" "" "Stargardt disease; y36, best corrected visual acuity: count fingers, flecks, dark choroid." "3y" "" "first symptoms or first visit to an ophthalmologist" "" "" "" "" "" "" "" ""
"0000057911" "00420" "00078136" "01695" "Unknown" "" "Stargardt disease; y52, best corrected visual acuity: hand movement, flecks." "5y" "" "first symptoms or first visit to an ophthalmologist" "" "" "" "" "" "" "" ""
"0000057912" "00420" "00078137" "01695" "Unknown" "" "Stargardt disease; y8, best corrected visual acuity: 20/333, flecks, dark choroid." "7y" "" "first symptoms or first visit to an ophthalmologist" "" "" "" "" "" "" "" ""
"0000057913" "00420" "00078138" "01695" "Unknown" "" "Stargardt disease; y17, best corrected visual acuity: 20/286, flecks." "9y" "" "first symptoms or first visit to an ophthalmologist" "" "" "" "" "" "" "" ""
"0000057914" "00420" "00078139" "01695" "Unknown" "" "Stargardt disease; y14, best corrected visual acuity: 20/200, flecks." "3y" "" "first symptoms or first visit to an ophthalmologist" "" "" "" "" "" "" "" ""
"0000057915" "00420" "00078140" "01695" "Unknown" "" "Stargardt disease; y48, best corrected visual acuity: hand movement, flecks." "7y" "" "first symptoms or first visit to an ophthalmologist" "" "" "" "" "" "" "" ""
"0000057916" "00420" "00078141" "01695" "Unknown" "" "Stargardt disease; y43, best corrected visual acuity: count fingers, flecks." "6y" "" "first symptoms or first visit to an ophthalmologist" "" "" "" "" "" "" "" ""
"0000057917" "00420" "00078142" "01695" "Unknown" "" "Stargardt disease; y33, best corrected visual acuity: 20/250, flecks." "8y" "" "first symptoms or first visit to an ophthalmologist" "" "" "" "" "" "" "" ""
"0000057918" "00420" "00078143" "01695" "Unknown" "" "Stargardt disease; y64, best corrected visual acuity: count fingers, flecks." "8y" "" "first symptoms or first visit to an ophthalmologist" "" "" "" "" "" "" "" ""
"0000057919" "00420" "00078144" "01695" "Unknown" "" "Stargardt disease; y51, best corrected visual acuity: count fingers, flecks, dark choroid." "9y" "" "first symptoms or first visit to an ophthalmologist" "" "" "" "" "" "" "" ""
"0000057920" "00420" "00078145" "01695" "Unknown" "" "Stargardt disease; y19, best corrected visual acuity: 20/200, flecks." "3y" "" "first symptoms or first visit to an ophthalmologist" "" "" "" "" "" "" "" ""
"0000057921" "00420" "00078146" "01695" "Unknown" "" "Stargardt disease; y16, best corrected visual acuity: 20/400, flecks." "9y" "" "first symptoms or first visit to an ophthalmologist" "" "" "" "" "" "" "" ""
"0000057922" "00420" "00078147" "01695" "Unknown" "" "Stargardt disease; y10, best corrected visual acuity: 20/250, flecks." "5y" "" "first symptoms or first visit to an ophthalmologist" "" "" "" "" "" "" "" ""
"0000057923" "00420" "00078148" "01695" "Unknown" "" "Stargardt disease; y31, best corrected visual acuity: 20/50. One of the following: >2 ABCA4 mutations ; 1 ABCA4 mutation and the presence of yellowwhite flecks; or in the absence of ABCA4 analysis, the presence of yellow-white flecks, and either a dark choroid or an atrophic macular lesion." "10y" "" "first symptoms or first visit to an ophthalmologist" "" "" "" "" "" "" "" ""
"0000057924" "00420" "00078149" "01695" "Unknown" "" "Stargardt disease; y19, best corrected visual acuity: 20/105, flecks." "9y" "" "first symptoms or first visit to an ophthalmologist" "" "" "" "" "" "" "" ""
"0000057925" "00420" "00078150" "01695" "Unknown" "" "Stargardt disease; y28, best corrected visual acuity: count fingers, flecks, dark choroid." "1y" "" "first symptoms or first visit to an ophthalmologist" "" "" "" "" "" "" "" ""
"0000057926" "00420" "00078151" "01695" "Unknown" "" "Stargardt disease; y26, best corrected visual acuity: 20/400, flecks, dark choroid." "8y" "" "first symptoms or first visit to an ophthalmologist" "" "" "" "" "" "" "" ""
"0000057927" "00420" "00078152" "01695" "Unknown" "" "Stargardt disease; y22, best corrected visual acuity: count fingers, flecks, dark choroid." "10y" "" "first symptoms or first visit to an ophthalmologist" "" "" "" "" "" "" "" ""
"0000057928" "00420" "00078153" "01695" "Unknown" "" "Stargardt disease; y15, best corrected visual acuity: 20/125, flecks, dark choroid." "9y" "" "first symptoms or first visit to an ophthalmologist" "" "" "" "" "" "" "" ""
"0000057929" "00420" "00078154" "01695" "Unknown" "" "Stargardt disease; y18, best corrected visual acuity: 20/286, flecks." "7y" "" "first symptoms or first visit to an ophthalmologist" "" "" "" "" "" "" "" ""
"0000057930" "00420" "00078155" "01695" "Unknown" "" "Stargardt disease; y31, best corrected visual acuity: 20/286, flecks, dark choroid." "10y" "" "first symptoms or first visit to an ophthalmologist" "" "" "" "" "" "" "" ""
"0000057931" "00420" "00078156" "01695" "Unknown" "" "Stargardt disease; y11, best corrected visual acuity: 20/125, flecks." "7y" "" "first symptoms or first visit to an ophthalmologist" "" "" "" "" "" "" "" ""
"0000057932" "00420" "00078157" "01695" "Unknown" "" "Stargardt disease; y7, best corrected visual acuity: 20/125, dark choroid." "7y" "" "first symptoms or first visit to an ophthalmologist" "" "" "" "" "" "" "" ""
"0000057933" "00420" "00078158" "01695" "Unknown" "" "Stargardt disease; y22, best corrected visual acuity: 20/286, flecks." "8y" "" "first symptoms or first visit to an ophthalmologist" "" "" "" "" "" "" "" ""
"0000057934" "00420" "00078159" "01695" "Unknown" "" "Stargardt disease; y13, best corrected visual acuity: 20/67. >2 ABCA4 mutations ; 1 ABCA4 mutation and the presence of yellowwhite flecks; or in the absence of ABCA4 analysis, the presence of yellow-white flecks, and either a dark choroid or an atrophic macular lesion." "10y" "" "first symptoms or first visit to an ophthalmologist" "" "" "" "" "" "" "" ""
"0000057935" "00420" "00078160" "01695" "Unknown" "" "Stargardt disease; y16, best corrected visual acuity: 20/286, flecks." "10y" "" "first symptoms or first visit to an ophthalmologist" "" "" "" "" "" "" "" ""
"0000057936" "00420" "00078161" "01695" "Unknown" "" "Stargardt disease; y24, best corrected visual acuity: 20/400, flecks, dark choroid." "5y" "" "first symptoms or first visit to an ophthalmologist" "" "" "" "" "" "" "" ""
"0000057937" "00420" "00078162" "01695" "Unknown" "" "Stargardt disease; y22, best corrected visual acuity: count fingers, flecks, dark choroid." "6y" "" "first symptoms or first visit to an ophthalmologist" "" "" "" "" "" "" "" ""
"0000057938" "00420" "00078163" "01695" "Unknown" "" "Stargardt disease; y15, best corrected visual acuity: 20/200, flecks, dark choroid." "5y" "" "first symptoms or first visit to an ophthalmologist" "" "" "" "" "" "" "" ""
"0000057939" "00420" "00078164" "01695" "Unknown" "" "Stargardt disease; y31, best corrected visual acuity: hand movement, flecks." "7y" "" "first symptoms or first visit to an ophthalmologist" "" "" "" "" "" "" "" ""
"0000057940" "00420" "00078165" "01695" "Unknown" "" "Stargardt disease; y20, best corrected visual acuity: 20/143, flecks." "9y" "" "first symptoms or first visit to an ophthalmologist" "" "" "" "" "" "" "" ""
"0000057941" "00420" "00078166" "01695" "Unknown" "" "Stargardt disease; y32, best corrected visual acuity: 20/200, flecks." "4y" "" "first symptoms or first visit to an ophthalmologist" "" "" "" "" "" "" "" ""
"0000057942" "00420" "00078167" "01695" "Unknown" "" "Stargardt disease; y18, best corrected visual acuity: 20/200, flecks." "8y" "" "first symptoms or first visit to an ophthalmologist" "" "" "" "" "" "" "" ""
"0000057943" "00420" "00078168" "01695" "Unknown" "" "Stargardt disease; y14, best corrected visual acuity: 20/125." "9y" "" "first symptoms or first visit to an ophthalmologist" "" "" "" "" "" "" "" ""
"0000057944" "00420" "00078169" "01695" "Unknown" "" "Stargardt disease; y43, best corrected visual acuity: count fingers, flecks." "8y" "" "first symptoms or first visit to an ophthalmologist" "" "" "" "" "" "" "" ""
"0000057945" "00420" "00078170" "01695" "Unknown" "" "Stargardt disease; central visual acuity loss with an atrophic maculopathy with or without flecks" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057946" "00420" "00078171" "01695" "Unknown" "" "Stargardt disease; central visual acuity loss with an atrophic maculopathy with or without flecks" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057947" "00420" "00078172" "01695" "Unknown" "" "Stargardt disease; central visual acuity loss with an atrophic maculopathy with or without flecks" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057948" "00420" "00078173" "01695" "Unknown" "" "Stargardt disease; central visual acuity loss with an atrophic maculopathy with or without flecks" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057949" "00420" "00078174" "01695" "Unknown" "" "Stargardt disease; central visual acuity loss with an atrophic maculopathy with or without flecks" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057950" "00420" "00078175" "01695" "Unknown" "" "Stargardt disease; central visual acuity loss with an atrophic maculopathy with or without flecks" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057951" "00420" "00078176" "01695" "Unknown" "" "Stargardt disease; central visual acuity loss with an atrophic maculopathy with or without flecks" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057952" "00420" "00078177" "01695" "Unknown" "" "Stargardt disease; central visual acuity loss with an atrophic maculopathy with or without flecks" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057953" "00420" "00078178" "01695" "Unknown" "" "Stargardt disease; central visual acuity loss with an atrophic maculopathy with or without flecks" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057954" "00420" "00078179" "01695" "Unknown" "" "Stargardt disease; central visual acuity loss with an atrophic maculopathy with or without flecks" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057955" "00420" "00078180" "01695" "Unknown" "" "Stargardt disease; central visual acuity loss with an atrophic maculopathy with or without flecks" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057956" "00420" "00078181" "01695" "Unknown" "" "Stargardt disease; central visual acuity loss with an atrophic maculopathy with or without flecks" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057957" "00420" "00078182" "01695" "Unknown" "" "Stargardt disease; central visual acuity loss with an atrophic maculopathy with or without flecks" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057958" "00420" "00078183" "01695" "Unknown" "" "Stargardt disease; central visual acuity loss with an atrophic maculopathy with or without flecks" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057959" "00420" "00078184" "01695" "Unknown" "" "Stargardt disease; central visual acuity loss with an atrophic maculopathy with or without flecks" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057960" "00420" "00078185" "01695" "Unknown" "" "Stargardt disease; central visual acuity loss with an atrophic maculopathy with or without flecks" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057961" "00420" "00078186" "01695" "Unknown" "" "Stargardt disease; central visual acuity loss with an atrophic maculopathy with or without flecks" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057962" "00420" "00078187" "01695" "Unknown" "" "Stargardt disease; central visual acuity loss with an atrophic maculopathy with or without flecks" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057963" "00420" "00078188" "01695" "Unknown" "" "Stargardt disease; central visual acuity loss with an atrophic maculopathy with or without flecks" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057964" "00420" "00078189" "01695" "Unknown" "" "Stargardt disease; central visual acuity loss with an atrophic maculopathy with or without flecks" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057965" "00420" "00078190" "01695" "Unknown" "" "Stargardt disease; central visual acuity loss with an atrophic maculopathy with or without flecks" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057966" "00420" "00078191" "01695" "Unknown" "" "Stargardt disease; central visual acuity loss with an atrophic maculopathy with or without flecks" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057967" "00420" "00078192" "01695" "Unknown" "" "Stargardt disease; central visual acuity loss with an atrophic maculopathy with or without flecks" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057968" "00420" "00078193" "01695" "Unknown" "" "Stargardt disease; central visual acuity loss with an atrophic maculopathy with or without flecks" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057969" "00420" "00078194" "01695" "Unknown" "" "Stargardt disease; central visual acuity loss with an atrophic maculopathy with or without flecks" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057970" "00420" "00078195" "01695" "Unknown" "" "Stargardt disease; central visual acuity loss with an atrophic maculopathy with or without flecks" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057971" "00420" "00078196" "01695" "Unknown" "" "Stargardt disease; central visual acuity loss with an atrophic maculopathy with or without flecks" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057972" "00420" "00078197" "01695" "Unknown" "" "Stargardt disease; central visual acuity loss with an atrophic maculopathy with or without flecks" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057973" "00420" "00078198" "01695" "Unknown" "" "Stargardt disease; central visual acuity loss with an atrophic maculopathy with or without flecks" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057974" "00420" "00078199" "01695" "Unknown" "" "Stargardt disease; clinical manifestations" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057975" "00420" "00078200" "01695" "Unknown" "" "Stargardt disease; clinical manifestations" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057976" "00420" "00078201" "01695" "Unknown" "" "Stargardt disease; clinical manifestations" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057977" "00420" "00078202" "01695" "Unknown" "" "Stargardt disease; clinical manifestations" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057978" "00420" "00078203" "01695" "Unknown" "" "Stargardt disease; clinical manifestations" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057979" "00420" "00078204" "01695" "Unknown" "" "Stargardt disease; clinical manifestations" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057980" "00420" "00078205" "01695" "Unknown" "" "Stargardt disease; clinical manifestations" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057981" "00420" "00078206" "01695" "Unknown" "" "Stargardt disease; clinical manifestations" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057982" "00420" "00078207" "01695" "Unknown" "" "Stargardt disease; clinical manifestations" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057983" "00420" "00078208" "01695" "Unknown" "" "Stargardt disease; clinical manifestations" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057984" "00420" "00078209" "01695" "Unknown" "" "Stargardt disease; clinical manifestations" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057985" "00420" "00078210" "01695" "Unknown" "" "Stargardt disease; clinical manifestations" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057986" "00420" "00078211" "01695" "Unknown" "" "Stargardt disease; clinical manifestations" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057987" "00420" "00078212" "01695" "Unknown" "" "Stargardt disease; clinical manifestations" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057988" "00420" "00078213" "01695" "Unknown" "" "Stargardt disease; clinical manifestations" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057989" "00420" "00078214" "01695" "Unknown" "" "Stargardt disease; clinical manifestations" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057990" "00420" "00078215" "01695" "Unknown" "" "Stargardt disease; clinical manifestations" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057991" "00420" "00078216" "01695" "Unknown" "" "Stargardt disease; clinical manifestations" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057992" "00420" "00078217" "01695" "Unknown" "" "Stargardt disease; clinical manifestations" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057993" "00420" "00078218" "01695" "Unknown" "" "Stargardt disease; The best corrected visual acuity in proband 1 (aged 39 years) was 0.1 bilaterally. Fundus examination showed typical multiple yellow-white lesions and macular atrophy. Alterations of retinal pigment epithelium, retinal thinning and disruption of the photoreceptor inner segment ellipsoid band were detected with an SD-OCT." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057994" "00420" "00078219" "01695" "Unknown" "" "Stargardt disease; The best corrected visual acuity was 0.05 in proband 2 (aged 26 years). Fundus examination showed typical multiple yellow-white lesions and macular atrophy. Alterations of retinal pigment epithelium, retinal thinning and disruption of the photoreceptor inner segment ellipsoid band were detected with an SD-OCT." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057995" "04214" "00078220" "01695" "Familial, autosomal recessive" "" "retinitis pigmentosa; Night blindness, peripheral vision loss, and ocular fundus alteration and reduced scotopic response." "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000057996" "04214" "00078221" "01695" "Familial, autosomal recessive" "" "retinitis pigmentosa; Night blindness, peripheral vision loss, and ocular fundus alteration and reduced scotopic response." "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000057997" "04214" "00078222" "01695" "Familial, autosomal recessive" "" "retinitis pigmentosa; Night blindness, peripheral vision loss, and ocular fundus alteration and reduced scotopic response." "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000057998" "00420" "00078223" "01695" "Familial, autosomal recessive" "" "Stargardt disease; y27: Visual acuity: OD 6/60, OS 6/36. Macular atrophy, no flecks, Fundus autofluorescense: Hypo-autofluorescense surrounded by ring of hyper-autofluorescense." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000057999" "00420" "00078224" "01695" "Isolated (sporadic)" "" "Stargardt disease; y31: Visual acuity: OD 6/60, OS 4/60. Macular atrophy, macular flecks, Fundus autofluorescense: Hypo-autofluorescense surrounded by hyper- and hypo-autofluorescense flecks." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000058000" "00420" "00078225" "01695" "Familial, autosomal recessive" "" "Stargardt disease; y22: Visual acuity: OD 6/60, OS 6/45. Macular atrophy, extensive flecks, Fundus autofluorescense: Hypo-autofluorescense surrounded by hyper- and hypo-autofluorescense flecks. Rod-cone dysfunction." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000058001" "00420" "00078226" "01695" "Familial, autosomal recessive" "" "Stargardt disease; y26: Visual acuity: OD 6/38, OS 6/38. Macular atrophy, no flecks." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000058002" "00420" "00078227" "01695" "Familial, autosomal recessive" "" "Stargardt disease; y16: Visual acuity: OD 6/60, OS 6/38. Macular atrophy, temporal pallor of optic discs, Fundus autofluorescense: Hypo-autofluorescense surrounded by hyper-autofluorescense flecks. Cone-rod dysfunction." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000058003" "00198" "00078228" "01695" "Unknown" "" "ABCA4-related retinal disease; y34.5: visual acuity OD 0.3logMAR, OS 0.18logMAR. Presence of central atrophy, mottling, and/or macular flecks in fundus AF (488-nm excitation) images. Patients included in this cohort were (1) those presenting with fundus features that could be observed in both confirmed ABCA4-associated disease and in patients considered to carry the PD phenotype (central lesion with jagged border, butterfly-shaped lesion in the macula); (2) patients with a phenotype having some features that were atypical for ABCA4-associated STGD1 (no peripapillary sparing; atypical size, shape, and distribution of flecks); and (3) patients in whom ABCA4 mutations were not detected despite ABCA4-like fundus features but in whom additional genetic screening revealed PRPH2/RDS mutations." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000058004" "00198" "00078229" "01695" "Unknown" "" "ABCA4-related retinal disease; y34.5: visual acuity OD 0.18logMAR, OS 0.18logMAR. Presence of central atrophy, mottling, and/or macular flecks in fundus AF (488-nm excitation) images. Patients included in this cohort were (1) those presenting with fundus features that could be observed in both confirmed ABCA4-associated disease and in patients considered to carry the PD phenotype (central lesion with jagged border, butterfly-shaped lesion in the macula); (2) patients with a phenotype having some features that were atypical for ABCA4-associated STGD1 (no peripapillary sparing; atypical size, shape, and distribution of flecks); and (3) patients in whom ABCA4 mutations were not detected despite ABCA4-like fundus features but in whom additional genetic screening revealed PRPH2/RDS mutations." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000058005" "00198" "00078230" "01695" "Unknown" "" "ABCA4-related retinal disease; y60.3: visual acuity OD 0.88logMAR, OS 0.88logMAR. Presence of central atrophy, mottling, and/or macular flecks in fundus AF (488-nm excitation) images. Patients included in this cohort were (1) those presenting with fundus features that could be observed in both confirmed ABCA4-associated disease and in patients considered to carry the PD phenotype (central lesion with jagged border, butterfly-shaped lesion in the macula); (2) patients with a phenotype having some features that were atypical for ABCA4-associated STGD1 (no peripapillary sparing; atypical size, shape, and distribution of flecks); and (3) patients in whom ABCA4 mutations were not detected despite ABCA4-like fundus features but in whom additional genetic screening revealed PRPH2/RDS mutations." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000058006" "00198" "00078231" "01695" "Unknown" "" "ABCA4-related retinal disease; y42.2: visual acuity OD 0.48logMAR, OS 0.48logMAR. Presence of central atrophy, mottling, and/or macular flecks in fundus AF (488-nm excitation) images. Patients included in this cohort were (1) those presenting with fundus features that could be observed in both confirmed ABCA4-associated disease and in patients considered to carry the PD phenotype (central lesion with jagged border, butterfly-shaped lesion in the macula); (2) patients with a phenotype having some features that were atypical for ABCA4-associated STGD1 (no peripapillary sparing; atypical size, shape, and distribution of flecks); and (3) patients in whom ABCA4 mutations were not detected despite ABCA4-like fundus features but in whom additional genetic screening revealed PRPH2/RDS mutations." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000058007" "00198" "00078232" "01695" "Unknown" "" "ABCA4-related retinal disease; y42.8: visual acuity OD 0.88logMAR, OS 0.4logMAR. Presence of central atrophy, mottling, and/or macular flecks in fundus AF (488-nm excitation) images. Patients included in this cohort were (1) those presenting with fundus features that could be observed in both confirmed ABCA4-associated disease and in patients considered to carry the PD phenotype (central lesion with jagged border, butterfly-shaped lesion in the macula); (2) patients with a phenotype having some features that were atypical for ABCA4-associated STGD1 (no peripapillary sparing; atypical size, shape, and distribution of flecks); and (3) patients in whom ABCA4 mutations were not detected despite ABCA4-like fundus features but in whom additional genetic screening revealed PRPH2/RDS mutations." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000058008" "00198" "00078233" "01695" "Unknown" "" "ABCA4-related retinal disease; y38.5: visual acuity OD _0.12logMAR, OS 0logMAR. Presence of central atrophy, mottling, and/or macular flecks in fundus AF (488-nm excitation) images. Patients included in this cohort were (1) those presenting with fundus features that could be observed in both confirmed ABCA4-associated disease and in patients considered to carry the PD phenotype (central lesion with jagged border, butterfly-shaped lesion in the macula); (2) patients with a phenotype having some features that were atypical for ABCA4-associated STGD1 (no peripapillary sparing; atypical size, shape, and distribution of flecks); and (3) patients in whom ABCA4 mutations were not detected despite ABCA4-like fundus features but in whom additional genetic screening revealed PRPH2/RDS mutations." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000058009" "00198" "00078234" "01695" "Unknown" "" "ABCA4-related retinal disease; y50.2: visual acuity OD 0.6logMAR, OS 0.7logMAR. Presence of central atrophy, mottling, and/or macular flecks in fundus AF (488-nm excitation) images. Patients included in this cohort were (1) those presenting with fundus features that could be observed in both confirmed ABCA4-associated disease and in patients considered to carry the PD phenotype (central lesion with jagged border, butterfly-shaped lesion in the macula); (2) patients with a phenotype having some features that were atypical for ABCA4-associated STGD1 (no peripapillary sparing; atypical size, shape, and distribution of flecks); and (3) patients in whom ABCA4 mutations were not detected despite ABCA4-like fundus features but in whom additional genetic screening revealed PRPH2/RDS mutations." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000058010" "00198" "00078235" "01695" "Unknown" "" "ABCA4-related retinal disease; y25.6: visual acuity OD 1logMAR, OS 1logMAR. Presence of central atrophy, mottling, and/or macular flecks in fundus AF (488-nm excitation) images. Patients included in this cohort were (1) those presenting with fundus features that could be observed in both confirmed ABCA4-associated disease and in patients considered to carry the PD phenotype (central lesion with jagged border, butterfly-shaped lesion in the macula); (2) patients with a phenotype having some features that were atypical for ABCA4-associated STGD1 (no peripapillary sparing; atypical size, shape, and distribution of flecks); and (3) patients in whom ABCA4 mutations were not detected despite ABCA4-like fundus features but in whom additional genetic screening revealed PRPH2/RDS mutations." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000058011" "00198" "00078236" "01695" "Unknown" "" "ABCA4-related retinal disease; y20.2: visual acuity OD 0.88logMAR, OS 0.88logMAR. Presence of central atrophy, mottling, and/or macular flecks in fundus AF (488-nm excitation) images. Patients included in this cohort were (1) those presenting with fundus features that could be observed in both confirmed ABCA4-associated disease and in patients considered to carry the PD phenotype (central lesion with jagged border, butterfly-shaped lesion in the macula); (2) patients with a phenotype having some features that were atypical for ABCA4-associated STGD1 (no peripapillary sparing; atypical size, shape, and distribution of flecks); and (3) patients in whom ABCA4 mutations were not detected despite ABCA4-like fundus features but in whom additional genetic screening revealed PRPH2/RDS mutations." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000058012" "00198" "00078237" "01695" "Unknown" "" "ABCA4-related retinal disease; y53.5: visual acuity OD 0.6logMAR, OS 0.48logMAR. Presence of central atrophy, mottling, and/or macular flecks in fundus AF (488-nm excitation) images. Patients included in this cohort were (1) those presenting with fundus features that could be observed in both confirmed ABCA4-associated disease and in patients considered to carry the PD phenotype (central lesion with jagged border, butterfly-shaped lesion in the macula); (2) patients with a phenotype having some features that were atypical for ABCA4-associated STGD1 (no peripapillary sparing; atypical size, shape, and distribution of flecks); and (3) patients in whom ABCA4 mutations were not detected despite ABCA4-like fundus features but in whom additional genetic screening revealed PRPH2/RDS mutations." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000058013" "00198" "00078238" "01695" "Unknown" "" "ABCA4-related retinal disease; y52.2: visual acuity OD 0.7logMAR, OS 0.6logMAR. Presence of central atrophy, mottling, and/or macular flecks in fundus AF (488-nm excitation) images. Patients included in this cohort were (1) those presenting with fundus features that could be observed in both confirmed ABCA4-associated disease and in patients considered to carry the PD phenotype (central lesion with jagged border, butterfly-shaped lesion in the macula); (2) patients with a phenotype having some features that were atypical for ABCA4-associated STGD1 (no peripapillary sparing; atypical size, shape, and distribution of flecks); and (3) patients in whom ABCA4 mutations were not detected despite ABCA4-like fundus features but in whom additional genetic screening revealed PRPH2/RDS mutations." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000058014" "00198" "00078239" "01695" "Unknown" "" "ABCA4-related retinal disease; y31.7: visual acuity OD 0.48logMAR, OS 0.48logMAR. Presence of central atrophy, mottling, and/or macular flecks in fundus AF (488-nm excitation) images. Patients included in this cohort were (1) those presenting with fundus features that could be observed in both confirmed ABCA4-associated disease and in patients considered to carry the PD phenotype (central lesion with jagged border, butterfly-shaped lesion in the macula); (2) patients with a phenotype having some features that were atypical for ABCA4-associated STGD1 (no peripapillary sparing; atypical size, shape, and distribution of flecks); and (3) patients in whom ABCA4 mutations were not detected despite ABCA4-like fundus features but in whom additional genetic screening revealed PRPH2/RDS mutations." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000058015" "00198" "00078240" "01695" "Unknown" "" "ABCA4-related retinal disease; y24.8: visual acuity OD 0logMAR, OS 0logMAR. Presence of central atrophy, mottling, and/or macular flecks in fundus AF (488-nm excitation) images. Patients included in this cohort were (1) those presenting with fundus features that could be observed in both confirmed ABCA4-associated disease and in patients considered to carry the PD phenotype (central lesion with jagged border, butterfly-shaped lesion in the macula); (2) patients with a phenotype having some features that were atypical for ABCA4-associated STGD1 (no peripapillary sparing; atypical size, shape, and distribution of flecks); and (3) patients in whom ABCA4 mutations were not detected despite ABCA4-like fundus features but in whom additional genetic screening revealed PRPH2/RDS mutations." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000058016" "00198" "00078241" "01695" "Unknown" "" "ABCA4-related retinal disease; y29.3: visual acuity OD 0.4logMAR, OS 0.4logMAR. Presence of central atrophy, mottling, and/or macular flecks in fundus AF (488-nm excitation) images. Patients included in this cohort were (1) those presenting with fundus features that could be observed in both confirmed ABCA4-associated disease and in patients considered to carry the PD phenotype (central lesion with jagged border, butterfly-shaped lesion in the macula); (2) patients with a phenotype having some features that were atypical for ABCA4-associated STGD1 (no peripapillary sparing; atypical size, shape, and distribution of flecks); and (3) patients in whom ABCA4 mutations were not detected despite ABCA4-like fundus features but in whom additional genetic screening revealed PRPH2/RDS mutations." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000058017" "00198" "00078242" "01695" "Unknown" "" "ABCA4-related retinal disease; y23: visual acuity OD 0.3logMAR, OS 0.18logMAR. Presence of central atrophy, mottling, and/or macular flecks in fundus AF (488-nm excitation) images. Patients included in this cohort were (1) those presenting with fundus features that could be observed in both confirmed ABCA4-associated disease and in patients considered to carry the PD phenotype (central lesion with jagged border, butterfly-shaped lesion in the macula); (2) patients with a phenotype having some features that were atypical for ABCA4-associated STGD1 (no peripapillary sparing; atypical size, shape, and distribution of flecks); and (3) patients in whom ABCA4 mutations were not detected despite ABCA4-like fundus features but in whom additional genetic screening revealed PRPH2/RDS mutations." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000058018" "00198" "00078243" "01695" "Unknown" "" "ABCA4-related retinal disease; y35.3: visual acuity OD 0.88logMAR, OS 0.1logMAR. Presence of central atrophy, mottling, and/or macular flecks in fundus AF (488-nm excitation) images. Patients included in this cohort were (1) those presenting with fundus features that could be observed in both confirmed ABCA4-associated disease and in patients considered to carry the PD phenotype (central lesion with jagged border, butterfly-shaped lesion in the macula); (2) patients with a phenotype having some features that were atypical for ABCA4-associated STGD1 (no peripapillary sparing; atypical size, shape, and distribution of flecks); and (3) patients in whom ABCA4 mutations were not detected despite ABCA4-like fundus features but in whom additional genetic screening revealed PRPH2/RDS mutations." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000058019" "00198" "00078244" "01695" "Unknown" "" "ABCA4-related retinal disease; y55: visual acuity OD 0logMAR, OS 0logMAR. Presence of central atrophy, mottling, and/or macular flecks in fundus AF (488-nm excitation) images. Patients included in this cohort were (1) those presenting with fundus features that could be observed in both confirmed ABCA4-associated disease and in patients considered to carry the PD phenotype (central lesion with jagged border, butterfly-shaped lesion in the macula); (2) patients with a phenotype having some features that were atypical for ABCA4-associated STGD1 (no peripapillary sparing; atypical size, shape, and distribution of flecks); and (3) patients in whom ABCA4 mutations were not detected despite ABCA4-like fundus features but in whom additional genetic screening revealed PRPH2/RDS mutations." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000058020" "00420" "00078245" "01695" "Isolated (sporadic)" "" "Stargardt disease; y18: visual acuity 0.1 OD, 0.2 OS, beaten-metal sign, pigment disorder, yellowish flecks, dark choroid." "8y" "" "poor vision" "" "" "" "" "" "" "" ""
"0000058021" "00420" "00078246" "01695" "Isolated (sporadic)" "" "Stargardt disease; y9: visual acuity 0.1 OD, 0.1 OS, beaten-metal sign, pigment disorder." "7y" "" "poor vision" "" "" "" "" "" "" "" ""
"0000058022" "00420" "00078247" "01695" "Familial, autosomal recessive" "" "Stargardt disease; y25: visual acuity 0.05 OD, 0.1 OS, beaten-metal sign, pigment disorder, yellowish flecks, dark choroid." "" "" "poor vision" "" "" "" "" "" "" "" ""
"0000058023" "00420" "00078248" "01695" "Isolated (sporadic)" "" "Stargardt disease; onset early childhood; y17: visual acuity 0.3 OD, 0.2 OS, pigment disorder." "" "" "poor vision" "" "" "" "" "" "" "" ""
"0000058024" "00420" "00078249" "01695" "Familial, autosomal recessive" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000058025" "00420" "00078250" "01695" "Familial, autosomal recessive" "" "Stargardt disease; onset early childhood; y8: visual acuity 0.06 OD, 0.08 OS, beaten-metal sign, pigment disorder." "" "" "poor vision" "" "" "" "" "" "" "" ""
"0000058026" "00420" "00078251" "01695" "Familial, autosomal recessive" "" "Stargardt disease; y12: visual acuity 0.2 OD, 0.2 OS, pigment disorder." "10y" "" "poor vision" "" "" "" "" "" "" "" ""
"0000058027" "00420" "00078252" "01695" "Familial, autosomal recessive" "" "Stargardt disease; onset early childhood; y20: visual acuity 0.04 OD, 0.04 OS, pigment disorder." "" "" "poor vision" "" "" "" "" "" "" "" ""
"0000058028" "00420" "00078253" "01695" "Familial, autosomal recessive" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000058029" "00420" "00078254" "01695" "Familial, autosomal recessive" "" "Stargardt disease; y15: visual acuity 0.1 OD, 0.05 OS, beaten-metal sign, pigment disorder, ." "11y" "" "poor vision" "" "" "" "" "" "" "" ""
"0000058030" "00420" "00078255" "01695" "Isolated (sporadic)" "" "Stargardt disease; y9: visual acuity 0.1 OD, 0.07 OS." "" "" "poor vision" "" "" "" "" "" "" "" ""
"0000058031" "00420" "00078256" "01695" "Isolated (sporadic)" "" "Stargardt disease; y7.5: visual acuity 0.07 OD, 0.1 OS, pigment disorder, dark choroid." "7y" "" "poor vision" "" "" "" "" "" "" "" ""
"0000058032" "00420" "00078257" "01695" "Familial, autosomal recessive" "" "Stargardt disease; y11: visual acuity 0.1 OD, 0.1 OS, beaten-metal sign, pigment disorder, dark choroid." "6y" "" "poor vision" "" "" "" "" "" "" "" ""
"0000058033" "00420" "00078258" "01695" "Familial, autosomal recessive" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000058034" "00420" "00078259" "01695" "Familial, autosomal recessive" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000058035" "00420" "00078260" "01695" "Familial, autosomal recessive" "" "Stargardt disease" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000058036" "00420" "00078261" "01695" "Familial, autosomal recessive" "" "Stargardt disease; y11: visual acuity 0.1 OD, 0.1 OS, beaten-metal sign, pigment disorder." "8y" "" "poor vision" "" "" "" "" "" "" "" ""
"0000058037" "00420" "00078262" "01695" "Isolated (sporadic)" "" "Stargardt disease; y7: pigment disorder." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000058038" "00420" "00078263" "01695" "Isolated (sporadic)" "" "Stargardt disease; y8: visual acuity 0.2 OD, 0.15 OS, beaten-metal sign, pigment disorder." "8y" "" "poor vision" "" "" "" "" "" "" "" ""
"0000058039" "00420" "00078264" "01695" "Isolated (sporadic)" "" "Stargardt disease; y26: visual acuity 0.1 OD, 0.1 OS, beaten-metal sign, pigment disorder." "20y" "" "poor vision" "" "" "" "" "" "" "" ""
"0000058040" "00420" "00078265" "01695" "Isolated (sporadic)" "" "Stargardt disease; y8.5: visual acuity 0.2 OD, 0.3 OS, beaten-metal sign, dark choroid." "8y" "" "poor vision" "" "" "" "" "" "" "" ""
"0000058041" "00420" "00078266" "01695" "Isolated (sporadic)" "" "Stargardt disease; y7: visual acuity 0.1 OD, 0.1 OS, pigment disorder." "6y" "" "poor vision" "" "" "" "" "" "" "" ""
"0000058042" "00420" "00078267" "01695" "Isolated (sporadic)" "" "Stargardt disease; onset early childhood" "" "" "poor vision" "" "" "" "" "" "" "" ""
"0000058043" "00420" "00078268" "01695" "Isolated (sporadic)" "" "Stargardt disease; y12: beaten-metal sign, pigment disorder." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000058044" "04214" "00078269" "01695" "Familial, autosomal recessive" "" "retinitis pigmentosa; y8: retinal dystrophy. y27: 20/400, in both eyes. The intraocular pressure (IOP) was 18mmHg in her right eye (OD) and 20mmHg in her left eye (OS). Optic coherence tomography (OCT) showed decreased thickness of the retinal layers in both eyes. Fundus oculi examination showed focal pathology in the macular region and “bone corpuscle” like pigment lumps in the periphery. y18: tunnel-like vision changes. y22: ERG showed that in both eyes the a- and b-waves had very insufficient amplitudes and inadequate implicit times. The VEP showed drastically decreased N75-P100 amplitude in both eyes and prolonged P100 implicit time in the right eye." "8y" "" "vision complaints" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000058045" "00058" "00078270" "01695" "Unknown" "" "cone-rod dystrophy (HP:0000510); y23, visual acuity: 0.04, 0.05 (OD, OS). Large central and nasal paracentral scotomas for V4e. Constricted II4e isopters." "7y" "" "unknown" "" "" "" "" "" "" "" ""
"0000058046" "00420" "00078271" "01695" "Unknown" "" "Stargardt disease; y13, visual acuity: 0.1, 0.1 (OD, OS). Large central scotomas for V4e RE, and I4e LE." "10y" "" "unknown" "" "" "" "" "" "" "" ""
"0000058047" "00058" "00078272" "01695" "Unknown" "" "cone-rod dystrophy (HP:0000510); y17, visual acuity: 0.02, 0.05 (OD, OS). Large central scotomas for V4e." "7y" "" "unknown" "" "" "" "" "" "" "" ""
"0000058048" "00058" "00078273" "01695" "Unknown" "" "cone-rod dystrophy (HP:0000510); y20, visual acuity: 0.06, 0.06 (OD, OS). Large nasal paracentral scotomas for II4e." "11y" "" "unknown" "" "" "" "" "" "" "" ""
"0000058049" "00420" "00078274" "01695" "Unknown" "" "Stargardt disease; y16, visual acuity: 0.06, 0.06 (OD, OS). Large central and nasal paracentral scotomas for I4e." "6y" "" "unknown" "" "" "" "" "" "" "" ""
"0000058050" "00420" "00078275" "01695" "Unknown" "" "Stargardt disease; y20, visual acuity: 0.13, 0.16 (OD, OS). Central scotomas for 03e." "12y" "" "unknown" "" "" "" "" "" "" "" ""
"0000058051" "00420" "00078276" "01695" "Unknown" "" "Stargardt disease; y23, visual acuity: 0.1, 0.1 (OD, OS). Large central scotomas for 03e." "10y" "" "unknown" "" "" "" "" "" "" "" ""
"0000058052" "00420" "00078277" "01695" "Unknown" "" "Stargardt disease; y13, visual acuity: 0.25, 0.25 (OD, OS). Small central scotoma for 03e." "6y" "" "unknown" "" "" "" "" "" "" "" ""
"0000058053" "00420" "00078278" "01695" "Unknown" "" "Stargardt disease; y22, visual acuity: 0.04, 0.08 (OD, OS). RE scotoma within 10° for V4e. LE large scotoma for I4e and small central scotoma within 5° for V4e." "13y" "" "unknown" "" "" "" "" "" "" "" ""
"0000058054" "00420" "00078279" "01695" "Unknown" "" "Stargardt disease; y53, visual acuity: 20/20 OD, 20/20 OS, mottling, flecks." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000058055" "00420" "00078280" "01695" "Unknown" "" "Stargardt disease; y55, visual acuity: 20/20 OD, 20/20 OS, mottling, flecks." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000058056" "00420" "00078281" "01695" "Unknown" "" "Stargardt disease; y57, visual acuity: 20/20 OD, 20/20 OS, bull\'s eye maculopathy, flecks." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000058057" "00420" "00078282" "01695" "Unknown" "" "Stargardt disease; y10, visual acuity: 20/30 OD, 20/25 OS, bull\'s eye maculopathy, flecks." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000058058" "00420" "00078283" "01695" "Unknown" "" "Stargardt disease; y26, visual acuity: 20/30 OD, 20/20 OS, mottling, flecks; y25.9 visual acuity was 0.18 OD and 0 OS." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000058059" "00420" "00078284" "01695" "Unknown" "" "Stargardt disease; y19, visual acuity: 20/25 OD, 20/25 OS, bull\'s eye maculopathy." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000058060" "00420" "00078285" "01695" "Unknown" "" "Stargardt disease; y25, visual acuity: 20/20 OD, 20/40 OS, bull\'s eye maculopathy." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000058061" "00420" "00078286" "01695" "Familial, autosomal recessive" "" "Stargardt disease; y10, best corrected visual acuity was 20/200 for both eyes. Macular granularity and pigmentary atrophic changes were evident in the macular area. Atrophic changes in the macular region surrounded by numerous hypofluorescent flecks to the midperiphery." "5y" "" "progressive vision loss" "" "" "" "" "" "" "" ""
"0000058062" "00420" "00078287" "01695" "Familial, autosomal recessive" "" "Stargardt disease; y32, best corrected visual acuity was 20/125 and 20/200 in the right and left eye, respectively." "" "" "unknown" "" "" "" "" "" "" "" ""
"0000058063" "00420" "00078288" "01695" "Familial, autosomal recessive" "" "Stargardt disease; y69, visual acuity OD: count fingers, OS: count fingers, geographic atrophy at the posterior pole, fleck distribution: choriocapillaris, resorbed peripapillary sparing." "5y" "" "unknown" "" "" "" "" "" "" "" ""
"0000058064" "00420" "00078289" "01695" "Familial, autosomal recessive" "" "Stargardt disease; y67, visual acuity OD: count fingers, OS: 20/400, geographic atrophy at the extra-macular, fleck distribution: choriocapillaris, resorbed peripapillary sparing." "5y" "" "unknown" "" "" "" "" "" "" "" ""
"0000058065" "00420" "00078290" "01695" "Familial, autosomal recessive" "" "Stargardt disease; y43, visual acuity OD: 20/400, OS: 20/200, geographic atrophy at the macular, fleck distribution: choriocapillaris, resorbed/reticular peripapillary sparing." "9y" "" "unknown" "" "" "" "" "" "" "" ""
"0000058066" "00420" "00078291" "01695" "Familial, autosomal recessive" "" "Stargardt disease; y40, visual acuity OD: 20/100, OS: 20/100, fleck distribution: outer retina, scattered peripapillary sparing." "30y" "" "unknown" "" "" "" "" "" "" "" ""
"0000058067" "00420" "00078292" "01695" "Familial, autosomal recessive" "" "Stargardt disease; y37, visual acuity OD: 20/150, OS: 20/150, fleck distribution: outer retina, scattered peripapillary sparing." "30y" "" "unknown" "" "" "" "" "" "" "" ""
"0000058068" "04214" "00078293" "01695" "Familial, autosomal recessive" "" "retinitis pigmentosa; Near-Blindness, posterior subcapsular cataract, visual acuity: hand movements" "10y" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000058069" "00420" "00078294" "01695" "Unknown" "" "Stargardt disease; bilateral impairment of central vision together with irregular hyperfluorescent lesions at the macula and a darkchoroid background in fluorescein angiography" "6y" "" "visual deterioration, observed by patient" "" "" "" "" "" "" "" ""
"0000058070" "00058" "00078295" "01695" "Unknown" "" "cone-rod dystrophy (HP:0000510); Bilateral, progressive visual loss with concomitant nyctalpia, color vision abnormalities and photophobia. The eye fundus examination revealed panretinal degeneration affecting the macula more severely. In flash ERG full-field rod responses were moderately reduced, as well as cone-rod responses, whereas full-field cone responses were severely reduced." "7y" "" "visual deterioration, observed by patient" "" "" "" "" "" "" "" ""
"0000058071" "00420" "00078296" "01695" "Unknown" "" "Stargardt disease; bilateral impairment of central vision together with irregular hyperfluorescent lesions at the macula and a darkchoroid background in fluorescein angiography" "7y" "" "visual deterioration, observed by patient" "" "" "" "" "" "" "" ""
"0000058072" "00420" "00078297" "01695" "Unknown" "" "Stargardt disease; bilateral impairment of central vision together with irregular hyperfluorescent lesions at the macula and a darkchoroid background in fluorescein angiography" "8y" "" "visual deterioration, observed by patient" "" "" "" "" "" "" "" ""
"0000058073" "00420" "00078298" "01695" "Unknown" "" "Stargardt disease; bilateral impairment of central vision together with irregular hyperfluorescent lesions at the macula and a darkchoroid background in fluorescein angiography" "9y" "" "visual deterioration, observed by patient" "" "" "" "" "" "" "" ""
"0000058074" "00420" "00078299" "01695" "Unknown" "" "Stargardt disease; bilateral impairment of central vision together with irregular hyperfluorescent lesions at the macula and a darkchoroid background in fluorescein angiography" "10y" "" "visual deterioration, observed by patient" "" "" "" "" "" "" "" ""
"0000058075" "00420" "00078300" "01695" "Unknown" "" "Stargardt disease; bilateral impairment of central vision together with irregular hyperfluorescent lesions at the macula and a darkchoroid background in fluorescein angiography" "9y" "" "visual deterioration, observed by patient" "" "" "" "" "" "" "" ""
"0000058076" "00420" "00078301" "01695" "Unknown" "" "Stargardt disease; bilateral impairment of central vision together with irregular hyperfluorescent lesions at the macula and a darkchoroid background in fluorescein angiography" "12y" "" "visual deterioration, observed by patient" "" "" "" "" "" "" "" ""
"0000058077" "00420" "00078302" "01695" "Unknown" "" "Stargardt disease; bilateral impairment of central vision together with irregular hyperfluorescent lesions at the macula and a darkchoroid background in fluorescein angiography" "15y" "" "visual deterioration, observed by patient" "" "" "" "" "" "" "" ""
"0000058078" "00420" "00078303" "01695" "Unknown" "" "Stargardt disease; bilateral impairment of central vision together with irregular hyperfluorescent lesions at the macula and a darkchoroid background in fluorescein angiography" "20y" "" "visual deterioration, observed by patient" "" "" "" "" "" "" "" ""
"0000058079" "00420" "00078304" "01695" "Unknown" "" "Stargardt disease; bilateral impairment of central vision together with irregular hyperfluorescent lesions at the macula and a darkchoroid background in fluorescein angiography" "23y" "" "visual deterioration, observed by patient" "" "" "" "" "" "" "" ""
"0000058080" "00420" "00078305" "01695" "Unknown" "" "Stargardt disease; bilateral impairment of central vision together with irregular hyperfluorescent lesions at the macula and a darkchoroid background in fluorescein angiography" "24y" "" "visual deterioration, observed by patient" "" "" "" "" "" "" "" ""
"0000058081" "00058" "00078306" "01695" "Unknown" "" "cone-rod dystrophy (HP:0000510); Bilateral, progressive visual loss with concomitant nyctalpia, color vision abnormalities and photophobia. The eye fundus examination revealed panretinal degeneration affecting the macula more severely. In flash ERG full-field rod responses were moderately reduced, as well as cone-rod responses, whereas full-field cone responses were severely reduced." "8y" "" "visual deterioration, observed by patient" "" "" "" "" "" "" "" ""
"0000058082" "00420" "00078307" "01695" "Unknown" "" "Stargardt disease; bilateral impairment of central vision together with irregular hyperfluorescent lesions at the macula and a darkchoroid background in fluorescein angiography" "9y" "" "visual deterioration, observed by patient" "" "" "" "" "" "" "" ""
"0000058083" "00420" "00078308" "01695" "Unknown" "" "Stargardt disease; bilateral impairment of central vision together with irregular hyperfluorescent lesions at the macula and a darkchoroid background in fluorescein angiography" "16y" "" "visual deterioration, observed by patient" "" "" "" "" "" "" "" ""
"0000058084" "00420" "00078309" "01695" "Unknown" "" "Stargardt disease; bilateral impairment of central vision together with irregular hyperfluorescent lesions at the macula and a darkchoroid background in fluorescein angiography" "35y" "" "visual deterioration, observed by patient" "" "" "" "" "" "" "" ""
"0000058085" "00420" "00078310" "01695" "Unknown" "" "Stargardt disease; bilateral impairment of central vision together with irregular hyperfluorescent lesions at the macula and a darkchoroid background in fluorescein angiography" "7y" "" "visual deterioration, observed by patient" "" "" "" "" "" "" "" ""
"0000058086" "00058" "00078311" "01695" "Unknown" "" "cone-rod dystrophy (HP:0000510); Bilateral, progressive visual loss with concomitant nyctalpia, color vision abnormalities and photophobia. The eye fundus examination revealed panretinal degeneration affecting the macula more severely. In flash ERG full-field rod responses were moderately reduced, as well as cone-rod responses, whereas full-field cone responses were severely reduced." "7y" "" "visual deterioration, observed by patient" "" "" "" "" "" "" "" ""
"0000058087" "00420" "00078312" "01695" "Unknown" "" "Stargardt disease; bilateral impairment of central vision together with irregular hyperfluorescent lesions at the macula and a darkchoroid background in fluorescein angiography" "8y" "" "visual deterioration, observed by patient" "" "" "" "" "" "" "" ""
"0000058088" "00420" "00078313" "01695" "Unknown" "" "Stargardt disease; bilateral impairment of central vision together with irregular hyperfluorescent lesions at the macula and a darkchoroid background in fluorescein angiography" "17y" "" "visual deterioration, observed by patient" "" "" "" "" "" "" "" ""
"0000058089" "00058" "00078314" "01695" "Unknown" "" "cone-rod dystrophy (HP:0000510); Bilateral, progressive visual loss with concomitant nyctalpia, color vision abnormalities and photophobia. The eye fundus examination revealed panretinal degeneration affecting the macula more severely. In flash ERG full-field rod responses were moderately reduced, as well as cone-rod responses, whereas full-field cone responses were severely reduced." "5y" "" "visual deterioration, observed by patient" "" "" "" "" "" "" "" ""
"0000058090" "00420" "00078315" "01695" "Unknown" "" "Stargardt disease; bilateral impairment of central vision together with irregular hyperfluorescent lesions at the macula and a darkchoroid background in fluorescein angiography" "6y" "" "visual deterioration, observed by patient" "" "" "" "" "" "" "" ""
"0000058091" "00420" "00078316" "01695" "Unknown" "" "Stargardt disease; bilateral impairment of central vision together with irregular hyperfluorescent lesions at the macula and a darkchoroid background in fluorescein angiography" "8y" "" "visual deterioration, observed by patient" "" "" "" "" "" "" "" ""
"0000058092" "00420" "00078317" "01695" "Unknown" "" "Stargardt disease; bilateral impairment of central vision together with irregular hyperfluorescent lesions at the macula and a darkchoroid background in fluorescein angiography" "8y" "" "visual deterioration, observed by patient" "" "" "" "" "" "" "" ""
"0000058093" "00420" "00078318" "01695" "Unknown" "" "Stargardt disease; bilateral impairment of central vision together with irregular hyperfluorescent lesions at the macula and a darkchoroid background in fluorescein angiography" "10y" "" "visual deterioration, observed by patient" "" "" "" "" "" "" "" ""
"0000058094" "00420" "00078319" "01695" "Unknown" "" "Stargardt disease; bilateral impairment of central vision together with irregular hyperfluorescent lesions at the macula and a darkchoroid background in fluorescein angiography" "12y" "" "visual deterioration, observed by patient" "" "" "" "" "" "" "" ""
"0000058095" "00420" "00078320" "01695" "Unknown" "" "Stargardt disease; bilateral impairment of central vision together with irregular hyperfluorescent lesions at the macula and a darkchoroid background in fluorescein angiography" "19y" "" "visual deterioration, observed by patient" "" "" "" "" "" "" "" ""
"0000058096" "00420" "00078321" "01695" "Unknown" "" "Stargardt disease; bilateral impairment of central vision together with irregular hyperfluorescent lesions at the macula and a darkchoroid background in fluorescein angiography" "35y" "" "visual deterioration, observed by patient" "" "" "" "" "" "" "" ""
"0000058097" "00420" "00078322" "01695" "Unknown" "" "Stargardt disease; bilateral impairment of central vision together with irregular hyperfluorescent lesions at the macula and a darkchoroid background in fluorescein angiography" "45y" "" "visual deterioration, observed by patient" "" "" "" "" "" "" "" ""
"0000058098" "00420" "00078323" "01695" "Unknown" "" "Stargardt disease; bilateral impairment of central vision together with irregular hyperfluorescent lesions at the macula and a darkchoroid background in fluorescein angiography" "8y" "" "visual deterioration, observed by patient" "" "" "" "" "" "" "" ""
"0000058099" "00420" "00078324" "01695" "Unknown" "" "Stargardt disease; bilateral impairment of central vision together with irregular hyperfluorescent lesions at the macula and a darkchoroid background in fluorescein angiography" "12y" "" "visual deterioration, observed by patient" "" "" "" "" "" "" "" ""
"0000058100" "00420" "00078325" "01695" "Unknown" "" "Stargardt disease; bilateral impairment of central vision together with irregular hyperfluorescent lesions at the macula and a darkchoroid background in fluorescein angiography" "17y" "" "visual deterioration, observed by patient" "" "" "" "" "" "" "" ""
"0000058101" "00420" "00078326" "01695" "Unknown" "" "Stargardt disease; bilateral impairment of central vision together with irregular hyperfluorescent lesions at the macula and a darkchoroid background in fluorescein angiography" "7y" "" "visual deterioration, observed by patient" "" "" "" "" "" "" "" ""
"0000058102" "00420" "00078327" "01695" "Unknown" "" "Stargardt disease; bilateral impairment of central vision together with irregular hyperfluorescent lesions at the macula and a darkchoroid background in fluorescein angiography" "9y" "" "visual deterioration, observed by patient" "" "" "" "" "" "" "" ""
"0000058103" "00420" "00078328" "01695" "Unknown" "" "Stargardt disease; bilateral impairment of central vision together with irregular hyperfluorescent lesions at the macula and a darkchoroid background in fluorescein angiography" "12y" "" "visual deterioration, observed by patient" "" "" "" "" "" "" "" ""
"0000058104" "00420" "00078329" "01695" "Unknown" "" "Stargardt disease; bilateral impairment of central vision together with irregular hyperfluorescent lesions at the macula and a darkchoroid background in fluorescein angiography" "13y" "" "visual deterioration, observed by patient" "" "" "" "" "" "" "" ""
"0000058105" "00420" "00078330" "01695" "Unknown" "" "Stargardt disease; bilateral impairment of central vision together with irregular hyperfluorescent lesions at the macula and a darkchoroid background in fluorescein angiography" "15y" "" "visual deterioration, observed by patient" "" "" "" "" "" "" "" ""
"0000058106" "00420" "00078331" "01695" "Unknown" "" "Stargardt disease; bilateral impairment of central vision together with irregular hyperfluorescent lesions at the macula and a darkchoroid background in fluorescein angiography" "16y" "" "visual deterioration, observed by patient" "" "" "" "" "" "" "" ""
"0000058107" "00420" "00078332" "01695" "Unknown" "" "Stargardt disease; bilateral impairment of central vision together with irregular hyperfluorescent lesions at the macula and a darkchoroid background in fluorescein angiography" "20y" "" "visual deterioration, observed by patient" "" "" "" "" "" "" "" ""
"0000058108" "00420" "00078333" "01695" "Unknown" "" "Stargardt disease; bilateral impairment of central vision together with irregular hyperfluorescent lesions at the macula and a darkchoroid background in fluorescein angiography" "25y" "" "visual deterioration, observed by patient" "" "" "" "" "" "" "" ""
"0000058109" "00420" "00078334" "01695" "Unknown" "" "Stargardt disease; bilateral impairment of central vision together with irregular hyperfluorescent lesions at the macula and a darkchoroid background in fluorescein angiography" "29y" "" "visual deterioration, observed by patient" "" "" "" "" "" "" "" ""
"0000058110" "00420" "00078335" "01695" "Unknown" "" "Stargardt disease; bilateral impairment of central vision together with irregular hyperfluorescent lesions at the macula and a darkchoroid background in fluorescein angiography" "35y" "" "visual deterioration, observed by patient" "" "" "" "" "" "" "" ""
"0000058111" "00420" "00078336" "01695" "Unknown" "" "Stargardt disease; bilateral impairment of central vision together with irregular hyperfluorescent lesions at the macula and a darkchoroid background in fluorescein angiography" "45y" "" "visual deterioration, observed by patient" "" "" "" "" "" "" "" ""
"0000058112" "00420" "00078337" "01695" "Unknown" "" "Stargardt disease; bilateral impairment of central vision together with irregular hyperfluorescent lesions at the macula and a darkchoroid background in fluorescein angiography" "16y" "" "visual deterioration, observed by patient" "" "" "" "" "" "" "" ""
"0000058113" "00420" "00078338" "01695" "Unknown" "" "Stargardt disease; bilateral impairment of central vision together with irregular hyperfluorescent lesions at the macula and a darkchoroid background in fluorescein angiography" "28y" "" "visual deterioration, observed by patient" "" "" "" "" "" "" "" ""
"0000058114" "00420" "00078339" "01695" "Unknown" "" "Stargardt disease; bilateral impairment of central vision together with irregular hyperfluorescent lesions at the macula and a darkchoroid background in fluorescein angiography" "6y" "" "visual deterioration, observed by patient" "" "" "" "" "" "" "" ""
"0000058115" "00420" "00078340" "01695" "Unknown" "" "Stargardt disease; bilateral impairment of central vision together with irregular hyperfluorescent lesions at the macula and a darkchoroid background in fluorescein angiography" "7y" "" "visual deterioration, observed by patient" "" "" "" "" "" "" "" ""
"0000058116" "00420" "00078341" "01695" "Unknown" "" "Stargardt disease; bilateral impairment of central vision together with irregular hyperfluorescent lesions at the macula and a darkchoroid background in fluorescein angiography" "8y" "" "visual deterioration, observed by patient" "" "" "" "" "" "" "" ""
"0000058117" "00420" "00078342" "01695" "Unknown" "" "Stargardt disease; bilateral impairment of central vision together with irregular hyperfluorescent lesions at the macula and a darkchoroid background in fluorescein angiography" "12y" "" "visual deterioration, observed by patient" "" "" "" "" "" "" "" ""
"0000058118" "00420" "00078343" "01695" "Unknown" "" "Stargardt disease; bilateral impairment of central vision together with irregular hyperfluorescent lesions at the macula and a darkchoroid background in fluorescein angiography" "6y" "" "visual deterioration, observed by patient" "" "" "" "" "" "" "" ""
"0000058119" "00420" "00078344" "01695" "Unknown" "" "Stargardt disease; bilateral impairment of central vision together with irregular hyperfluorescent lesions at the macula and a darkchoroid background in fluorescein angiography" "8y" "" "visual deterioration, observed by patient" "" "" "" "" "" "" "" ""
"0000058120" "00420" "00078345" "01695" "Unknown" "" "Stargardt disease; bilateral impairment of central vision together with irregular hyperfluorescent lesions at the macula and a darkchoroid background in fluorescein angiography" "24y" "" "visual deterioration, observed by patient" "" "" "" "" "" "" "" ""
"0000058121" "00420" "00078346" "01695" "Unknown" "" "Stargardt disease; bilateral impairment of central vision together with irregular hyperfluorescent lesions at the macula and a darkchoroid background in fluorescein angiography" "6y" "" "visual deterioration, observed by patient" "" "" "" "" "" "" "" ""
"0000058122" "00420" "00078347" "01695" "Unknown" "" "Stargardt disease; bilateral impairment of central vision together with irregular hyperfluorescent lesions at the macula and a darkchoroid background in fluorescein angiography" "16y" "" "visual deterioration, observed by patient" "" "" "" "" "" "" "" ""
"0000058123" "00420" "00078348" "01695" "Unknown" "" "Stargardt disease; bilateral impairment of central vision together with irregular hyperfluorescent lesions at the macula and a darkchoroid background in fluorescein angiography" "8y" "" "visual deterioration, observed by patient" "" "" "" "" "" "" "" ""
"0000058124" "00420" "00078349" "01695" "Unknown" "" "Stargardt disease; bilateral impairment of central vision together with irregular hyperfluorescent lesions at the macula and a darkchoroid background in fluorescein angiography" "21y" "" "visual deterioration, observed by patient" "" "" "" "" "" "" "" ""
"0000058125" "00420" "00078350" "01695" "Unknown" "" "Stargardt disease; bilateral impairment of central vision together with irregular hyperfluorescent lesions at the macula and a darkchoroid background in fluorescein angiography" "37y" "" "visual deterioration, observed by patient" "" "" "" "" "" "" "" ""
"0000058126" "00420" "00078351" "01695" "Unknown" "" "Stargardt disease; bilateral impairment of central vision together with irregular hyperfluorescent lesions at the macula and a darkchoroid background in fluorescein angiography" "10y" "" "visual deterioration, observed by patient" "" "" "" "" "" "" "" ""
"0000058127" "00420" "00078352" "01695" "Unknown" "" "Stargardt disease; bilateral impairment of central vision together with irregular hyperfluorescent lesions at the macula and a darkchoroid background in fluorescein angiography" "8y" "" "visual deterioration, observed by patient" "" "" "" "" "" "" "" ""
"0000058128" "00058" "00078353" "01695" "Unknown" "" "cone-rod dystrophy (HP:0000510); Bilateral, progressive visual loss with concomitant nyctalpia, color vision abnormalities and photophobia. The eye fundus examination revealed panretinal degeneration affecting the macula more severely. In flash ERG full-field rod responses were moderately reduced, as well as cone-rod responses, whereas full-field cone responses were severely reduced." "10y" "" "visual deterioration, observed by patient" "" "" "" "" "" "" "" ""
"0000058129" "00420" "00078354" "01695" "Unknown" "" "Stargardt disease; bilateral impairment of central vision together with irregular hyperfluorescent lesions at the macula and a darkchoroid background in fluorescein angiography" "14y" "" "visual deterioration, observed by patient" "" "" "" "" "" "" "" ""
"0000058130" "00420" "00078355" "01695" "Unknown" "" "Stargardt disease; bilateral impairment of central vision together with irregular hyperfluorescent lesions at the macula and a darkchoroid background in fluorescein angiography" "16y" "" "visual deterioration, observed by patient" "" "" "" "" "" "" "" ""
"0000058131" "00420" "00078356" "01695" "Unknown" "" "Stargardt disease; bilateral impairment of central vision together with irregular hyperfluorescent lesions at the macula and a darkchoroid background in fluorescein angiography" "50y" "" "visual deterioration, observed by patient" "" "" "" "" "" "" "" ""
"0000058132" "00420" "00078357" "01695" "Unknown" "" "Stargardt disease; bilateral impairment of central vision together with irregular hyperfluorescent lesions at the macula and a darkchoroid background in fluorescein angiography" "6y" "" "visual deterioration, observed by patient" "" "" "" "" "" "" "" ""
"0000058133" "00420" "00078358" "01695" "Unknown" "" "Stargardt disease; bilateral impairment of central vision together with irregular hyperfluorescent lesions at the macula and a darkchoroid background in fluorescein angiography" "7y" "" "visual deterioration, observed by patient" "" "" "" "" "" "" "" ""
"0000058134" "00420" "00078359" "01695" "Unknown" "" "Stargardt disease; bilateral impairment of central vision together with irregular hyperfluorescent lesions at the macula and a darkchoroid background in fluorescein angiography" "14y" "" "visual deterioration, observed by patient" "" "" "" "" "" "" "" ""
"0000058135" "00420" "00078360" "01695" "Unknown" "" "Stargardt disease; bilateral impairment of central vision together with irregular hyperfluorescent lesions at the macula and a darkchoroid background in fluorescein angiography" "26y" "" "visual deterioration, observed by patient" "" "" "" "" "" "" "" ""
"0000058136" "00420" "00078361" "01695" "Unknown" "" "Stargardt disease; bilateral impairment of central vision together with irregular hyperfluorescent lesions at the macula and a darkchoroid background in fluorescein angiography" "26y" "" "visual deterioration, observed by patient" "" "" "" "" "" "" "" ""
"0000058137" "00420" "00078362" "01695" "Unknown" "" "Stargardt disease; bilateral impairment of central vision together with irregular hyperfluorescent lesions at the macula and a darkchoroid background in fluorescein angiography" "28y" "" "visual deterioration, observed by patient" "" "" "" "" "" "" "" ""
"0000058138" "00058" "00078363" "01695" "Unknown" "" "cone-rod dystrophy (HP:0000510); Bilateral, progressive visual loss with concomitant nyctalpia, color vision abnormalities and photophobia. The eye fundus examination revealed panretinal degeneration affecting the macula more severely. In flash ERG full-field rod responses were moderately reduced, as well as cone-rod responses, whereas full-field cone responses were severely reduced." "6y" "" "visual deterioration, observed by patient" "" "" "" "" "" "" "" ""
"0000058139" "00058" "00078364" "01695" "Unknown" "" "cone-rod dystrophy (HP:0000510); Bilateral, progressive visual loss with concomitant nyctalpia, color vision abnormalities and photophobia. The eye fundus examination revealed panretinal degeneration affecting the macula more severely. In flash ERG full-field rod responses were moderately reduced, as well as cone-rod responses, whereas full-field cone responses were severely reduced." "17y" "" "visual deterioration, observed by patient" "" "" "" "" "" "" "" ""
"0000058140" "00420" "00078365" "01695" "Unknown" "" "Stargardt disease; bilateral impairment of central vision together with irregular hyperfluorescent lesions at the macula and a darkchoroid background in fluorescein angiography" "40y" "" "visual deterioration, observed by patient" "" "" "" "" "" "" "" ""
"0000058141" "00420" "00078366" "01695" "Unknown" "" "Stargardt disease" "" "" "0" "" "" "" "" "" "" "" ""
"0000058142" "00420" "00078367" "01695" "Unknown" "" "Stargardt disease" "" "" "0" "" "" "" "" "" "" "" ""
"0000058143" "00420" "00078368" "01695" "Unknown" "" "Stargardt disease" "" "" "0" "" "" "" "" "" "" "" ""
"0000058144" "00420" "00078369" "01695" "Unknown" "" "Stargardt disease" "" "" "0" "" "" "" "" "" "" "" ""
"0000058145" "00420" "00078370" "01695" "Unknown" "" "Stargardt disease" "" "" "0" "" "" "" "" "" "" "" ""
"0000058146" "00420" "00078371" "01695" "Unknown" "" "Stargardt disease" "" "" "0" "" "" "" "" "" "" "" ""
"0000058147" "00420" "00078372" "01695" "Unknown" "" "Stargardt disease" "" "" "0" "" "" "" "" "" "" "" ""
"0000058148" "00420" "00078373" "01695" "Unknown" "" "Stargardt disease" "" "" "0" "" "" "" "" "" "" "" ""
"0000058149" "00420" "00078374" "01695" "Unknown" "" "Stargardt disease" "" "" "0" "" "" "" "" "" "" "" ""
"0000058150" "00420" "00078375" "01695" "Unknown" "" "Stargardt disease" "" "" "0" "" "" "" "" "" "" "" ""
"0000058151" "00420" "00078376" "01695" "Unknown" "" "Stargardt disease" "" "" "0" "" "" "" "" "" "" "" ""
"0000058152" "00420" "00078377" "01695" "Unknown" "" "Stargardt disease" "" "" "0" "" "" "" "" "" "" "" ""
"0000058153" "00420" "00078378" "01695" "Unknown" "" "Stargardt disease" "" "" "0" "" "" "" "" "" "" "" ""
"0000058154" "00420" "00078379" "01695" "Unknown" "" "Stargardt disease" "" "" "0" "" "" "" "" "" "" "" ""
"0000058155" "00420" "00078380" "01695" "Unknown" "" "Stargardt disease" "" "" "0" "" "" "" "" "" "" "" ""
"0000058156" "00420" "00078381" "01695" "Unknown" "" "Stargardt disease" "" "" "0" "" "" "" "" "" "" "" ""
"0000058157" "00420" "00078382" "01695" "Unknown" "" "Stargardt disease" "" "" "0" "" "" "" "" "" "" "" ""
"0000058158" "00420" "00078383" "01695" "Unknown" "" "Stargardt disease" "" "" "0" "" "" "" "" "" "" "" ""
"0000058159" "00420" "00078384" "01695" "Unknown" "" "Stargardt disease" "" "" "0" "" "" "" "" "" "" "" ""
"0000058160" "00420" "00078385" "01695" "Unknown" "" "Stargardt disease" "" "" "0" "" "" "" "" "" "" "" ""
"0000058161" "00420" "00078386" "01695" "Unknown" "" "Stargardt disease" "" "" "0" "" "" "" "" "" "" "" ""
"0000058162" "00420" "00078387" "01695" "Unknown" "" "Stargardt disease" "" "" "0" "" "" "" "" "" "" "" ""
"0000058163" "00420" "00078388" "01695" "Unknown" "" "Stargardt disease" "" "" "0" "" "" "" "" "" "" "" ""
"0000058164" "00420" "00078389" "01695" "Unknown" "" "Stargardt disease" "" "" "0" "" "" "" "" "" "" "" ""
"0000058165" "00420" "00078390" "01695" "Unknown" "" "Stargardt disease" "" "" "0" "" "" "" "" "" "" "" ""
"0000058166" "00420" "00078391" "01695" "Unknown" "" "Stargardt disease" "" "" "0" "" "" "" "" "" "" "" ""
"0000058167" "00420" "00078392" "01695" "Unknown" "" "Stargardt disease" "" "" "0" "" "" "" "" "" "" "" ""
"0000058168" "00420" "00078393" "01695" "Unknown" "" "Stargardt disease" "" "" "0" "" "" "" "" "" "" "" ""
"0000058169" "04214" "00078394" "01695" "Unknown" "" "retinitis pigmentosa; y64: visual acuity both sides: hand motions, attenuated arterioles, bone spicules, pale optic disc." "5y" "" "0" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000058170" "04214" "00078395" "01695" "Unknown" "" "retinitis pigmentosa; y62: visual acuity both sides: hand motions, attenuated arterioles, bone spicules, pale optic disc." "6y" "" "0" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000058171" "00198" "00078396" "01695" "Unknown" "" "Bulls-eye maculopathy; y18: localized macular lesion exhibiting a smooth contour and qualitatively normal-appearing surrounding retina without flecks and visual acuity of 0 OD, 0 OS." "" "" "0" "" "" "" "" "" "" "" ""
"0000058172" "00198" "00078397" "01695" "Unknown" "" "ABCA4 related disease; y9 visual acuity was 1 OD and 1 OS." "" "" "0" "" "" "" "" "" "" "" ""
"0000058173" "00198" "00078398" "01695" "Unknown" "" "ABCA4 related disease; y46 visual acuity was 0.8 OD and n/a OS." "" "" "0" "" "" "" "" "" "" "" ""
"0000058174" "00198" "00078399" "01695" "Unknown" "" "ABCA4 related disease; y25.3 visual acuity was 1 OD and 1.3 OS." "" "" "0" "" "" "" "" "" "" "" ""
"0000058175" "00198" "00078400" "01695" "Unknown" "" "ABCA4 related disease; y21.5 visual acuity was 0.18 OD and 0.18 OS." "" "" "0" "" "" "" "" "" "" "" ""
"0000058176" "00198" "00078401" "01695" "Unknown" "" "ABCA4 related disease; y31 visual acuity was CF OD and 1.3 OS." "" "" "0" "" "" "" "" "" "" "" ""
"0000058177" "00198" "00078402" "01695" "Unknown" "" "ABCA4 related disease; y17 visual acuity was 0.88 OD and 0.88 OS." "" "" "0" "" "" "" "" "" "" "" ""
"0000058178" "00198" "00078403" "01695" "Unknown" "" "ABCA4 related disease; y22 visual acuity was 0.88 OD and 0.88 OS." "" "" "0" "" "" "" "" "" "" "" ""
"0000058179" "00198" "00078404" "01695" "Unknown" "" "ABCA4 related disease; y19.1 visual acuity was 0.3 OD and 0.4 OS." "" "" "0" "" "" "" "" "" "" "" ""
"0000058180" "00198" "00078405" "01695" "Unknown" "" "ABCA4 related disease; y21.8 visual acuity was 0.7 OD and 0.88 OS." "" "" "0" "" "" "" "" "" "" "" ""
"0000058181" "00198" "00078406" "01695" "Unknown" "" "ABCA4 related disease; y9.5 visual acuity was 0.88 OD and 0.7 OS." "" "" "0" "" "" "" "" "" "" "" ""
"0000058182" "00198" "00078407" "01695" "Unknown" "" "ABCA4 related disease" "" "" "0" "" "" "" "" "" "" "" ""
"0000058183" "00198" "00078408" "01695" "Unknown" "" "ABCA4 related disease; y13.9 visual acuity was 0.3 OD and 0.4 OS." "" "" "0" "" "" "" "" "" "" "" ""
"0000058184" "00198" "00078409" "01695" "Unknown" "" "Bulls-eye maculopathy; y26: localized macular lesion exhibiting a smooth contour and qualitatively normal-appearing surrounding retina without flecks and visual acuity of 0.4 OD, 0.7 OS." "" "" "0" "" "" "" "" "" "" "" ""
"0000058185" "00198" "00078410" "01695" "Unknown" "" "ABCA4 related disease; y52 visual acuity was 0.8 OD and 0 OS." "" "" "0" "" "" "" "" "" "" "" ""
"0000058186" "00198" "00078411" "01695" "Unknown" "" "ABCA4 related disease; y26 visual acuity was 0.48 OD and 0 OS." "" "" "0" "" "" "" "" "" "" "" ""
"0000058187" "00198" "00078412" "01695" "Unknown" "" "ABCA4 related disease; y19.7 visual acuity was 0.6 OD and 0.54 OS." "" "" "0" "" "" "" "" "" "" "" ""
"0000058188" "00198" "00078413" "01695" "Unknown" "" "ABCA4 related disease; y40.3 visual acuity was 0.4 OD and 1.18 OS." "" "" "0" "" "" "" "" "" "" "" ""
"0000058189" "00198" "00078414" "01695" "Unknown" "" "ABCA4 related disease; y6 visual acuity was 1.3 OD and n/a OS." "" "" "0" "" "" "" "" "" "" "" ""
"0000058190" "00198" "00078415" "01695" "Unknown" "" "ABCA4 related disease; y32 visual acuity was 1 OD and 1 OS." "" "" "0" "" "" "" "" "" "" "" ""
"0000058191" "00198" "00078416" "01695" "Unknown" "" "ABCA4 related disease; y46.9 visual acuity was 0.4 OD and 0.3 OS." "" "" "0" "" "" "" "" "" "" "" ""
"0000058192" "00198" "00078417" "01695" "Unknown" "" "ABCA4 related disease; y12.8 visual acuity was 0.6 OD and 0.4 OS." "" "" "0" "" "" "" "" "" "" "" ""
"0000058193" "00198" "00078418" "01695" "Unknown" "" "ABCA4 related disease; y14.1 visual acuity was 0.88 OD and 0.88 OS." "" "" "0" "" "" "" "" "" "" "" ""
"0000058194" "00198" "00078419" "01695" "Unknown" "" "Bulls-eye maculopathy; y16: localized macular lesion exhibiting a smooth contour and qualitatively normal-appearing surrounding retina without flecks and visual acuity of 0.7 OD, 0.4 OS." "" "" "0" "" "" "" "" "" "" "" ""
"0000058195" "00198" "00078420" "01695" "Unknown" "" "ABCA4 related disease; y19 visual acuity was 0.88 OD and 0.88 OS." "" "" "0" "" "" "" "" "" "" "" ""
"0000058196" "00198" "00078421" "01695" "Unknown" "" "ABCA4 related disease; y14 visual acuity was 1.3 OD and 1.3 OS." "" "" "0" "" "" "" "" "" "" "" ""
"0000058197" "00198" "00078422" "01695" "Unknown" "" "ABCA4 related disease; y7 visual acuity was 1.3 OD and 1.3 OS." "" "" "0" "" "" "" "" "" "" "" ""
"0000058198" "00198" "00078423" "01695" "Unknown" "" "ABCA4 related disease; y42.4 visual acuity was 0.1 OD and 0.4 OS." "" "" "0" "" "" "" "" "" "" "" ""
"0000058199" "00198" "00078424" "01695" "Unknown" "" "Bulls-eye maculopathy; y36: localized macular lesion exhibiting a smooth contour and qualitatively normal-appearing surrounding retina without flecks and visual acuity of 0.7 OD, 0.7 OS." "" "" "0" "" "" "" "" "" "" "" ""
"0000058200" "00198" "00078425" "01695" "Unknown" "" "Bulls-eye maculopathy; y46: localized macular lesion exhibiting a smooth contour and qualitatively normal-appearing surrounding retina without flecks and visual acuity of 0.4 OD, 0.4 OS." "" "" "0" "" "" "" "" "" "" "" ""
"0000058201" "00198" "00078426" "01695" "Unknown" "" "Bulls-eye maculopathy; y22: localized macular lesion exhibiting a smooth contour and qualitatively normal-appearing surrounding retina without flecks and visual acuity of 0.7 OD, 0.48 OS." "" "" "0" "" "" "" "" "" "" "" ""
"0000058202" "00198" "00078427" "01695" "Unknown" "" "Bulls-eye maculopathy; y20: localized macular lesion exhibiting a smooth contour and qualitatively normal-appearing surrounding retina without flecks and visual acuity of 0.7 OD, 0.88 OS." "" "" "0" "" "" "" "" "" "" "" ""
"0000058203" "00198" "00078428" "01695" "Unknown" "" "Bulls-eye maculopathy; y12: localized macular lesion exhibiting a smooth contour and qualitatively normal-appearing surrounding retina without flecks and visual acuity of 0.8 OD, 0.7 OS." "" "" "0" "" "" "" "" "" "" "" ""
"0000058204" "00198" "00078429" "01695" "Unknown" "" "Bulls-eye maculopathy; y21: localized macular lesion exhibiting a smooth contour and qualitatively normal-appearing surrounding retina without flecks and visual acuity of 0.88 OD, 0.88 OS." "" "" "0" "" "" "" "" "" "" "" ""
"0000058205" "00198" "00078430" "01695" "Unknown" "" "Bulls-eye maculopathy; y8.2: localized macular lesion exhibiting a smooth contour and qualitatively normal-appearing surrounding retina without flecks and visual acuity of 0.88 OD, 0.88 OS." "" "" "0" "" "" "" "" "" "" "" ""
"0000058206" "00198" "00078431" "01695" "Unknown" "" "Bulls-eye maculopathy; y25: localized macular lesion exhibiting a smooth contour and qualitatively normal-appearing surrounding retina without flecks and visual acuity of 0.6 OD, 0.6 OS." "" "" "0" "" "" "" "" "" "" "" ""
"0000058207" "00198" "00078432" "01695" "Unknown" "" "Bulls-eye maculopathy; y26: localized macular lesion exhibiting a smooth contour and qualitatively normal-appearing surrounding retina without flecks and visual acuity of 0 OD, 0 OS." "" "" "0" "" "" "" "" "" "" "" ""
"0000058208" "00420" "00078433" "01695" "Unknown" "" "Stargardt disease; y63: Visual acuity OD: 20/25 OS: 20/25 RPE atrophy surrounding the small foveal residue, yellow-white irregular flecks reaching as far as the vascular arcades. Foveal sparing in both eyes." "60y" "" "decreased visual acuity" "" "" "" "" "" "" "" ""
"0000058209" "00420" "00078434" "01695" "Unknown" "" "Stargardt disease; y45: Visual acuity OD:20/30 OS:20/30 RPE atrophy surrounding the fovea, fundus flavimaculatus flecks reaching up to vascular arcades. Foveal sparing in both eyes." "43y" "" "decreased visual acuity" "" "" "" "" "" "" "" ""
"0000058210" "00420" "00078435" "01695" "Unknown" "" "Stargardt disease; y63: Visual acuity OD:20/40 OS:20/15 Macular RPE atrophy lesions in the right eye confluent surrounding the fovea, yellow-white flecks in posterior pole, Dark choroid. Foveal sparing in right eye." "" "" "decreased visual acuity" "" "" "" "" "" "" "" ""
"0000058211" "00420" "00078436" "01695" "Unknown" "" "Stargardt disease; y53: Visual acuity OD:20/25 OS:20/200 Perifoveal RPE atrophy lesions in OD, macular RPE atrophy in OS, small yellow-white spots in perifoveal region in both eyes. Foveal sparing in the right eye, post foveal sparing in the left eye." "39y" "" "Paracentral scotoma" "" "" "" "" "" "" "" ""
"0000058212" "00420" "00078437" "01695" "Unknown" "" "Stargardt disease; y68: Visual acuity OD:20/200 OS:20/30 Confluent RPE spots in the posterior pole surrounding the fovea in OS, fovea already degenerated in OD, irregular yellow-white flecks surrounding the atrophic lesions. Dark choroid. Post foveal sparing in the right eye, foveal sparing in the left eye." "67y" "" "decreased visual acuity" "" "" "" "" "" "" "" ""
"0000058213" "00198" "00078438" "01695" "Unknown" "" "ABCA4 related retinopathy; based on characteristic findings on indirect ophthalmoscopy, optical coherence tomography, and conventional fundus AF imaging" "<19y" "" "0" "" "" "" "" "" "" "" ""
"0000058214" "00198" "00078439" "01695" "Unknown" "" "ABCA4 related retinopathy; based on characteristic findings on indirect ophthalmoscopy, optical coherence tomography, and conventional fundus AF imaging" "<30y" "" "0" "" "" "" "" "" "" "" ""
"0000058215" "00198" "00078440" "01695" "Unknown" "" "ABCA4 related retinopathy; based on characteristic findings on indirect ophthalmoscopy, optical coherence tomography, and conventional fundus AF imaging" "<18y" "" "0" "" "" "" "" "" "" "" ""
"0000058216" "00198" "00078441" "01695" "Unknown" "" "ABCA4 related retinopathy; based on characteristic findings on indirect ophthalmoscopy, optical coherence tomography, and conventional fundus AF imaging" "<21y" "" "0" "" "" "" "" "" "" "" ""
"0000058217" "00198" "00078442" "01695" "Unknown" "" "ABCA4 related retinopathy; based on characteristic findings on indirect ophthalmoscopy, optical coherence tomography, and conventional fundus AF imaging" "<39y" "" "0" "" "" "" "" "" "" "" ""
"0000058218" "00198" "00078443" "01695" "Unknown" "" "ABCA4 related retinopathy; based on characteristic findings on indirect ophthalmoscopy, optical coherence tomography, and conventional fundus AF imaging" "<17y" "" "0" "" "" "" "" "" "" "" ""
"0000058219" "00198" "00078444" "01695" "Unknown" "" "ABCA4 related retinopathy; based on characteristic findings on indirect ophthalmoscopy, optical coherence tomography, and conventional fundus AF imaging" "<15y" "" "0" "" "" "" "" "" "" "" ""
"0000058220" "00198" "00078445" "01695" "Unknown" "" "ABCA4 related retinopathy; based on characteristic findings on indirect ophthalmoscopy, optical coherence tomography, and conventional fundus AF imaging" "<34y" "" "0" "" "" "" "" "" "" "" ""
"0000058221" "00198" "00078446" "01695" "Unknown" "" "ABCA4 related retinopathy; based on characteristic findings on indirect ophthalmoscopy, optical coherence tomography, and conventional fundus AF imaging" "<35y" "" "0" "" "" "" "" "" "" "" ""
"0000058222" "00198" "00078447" "01695" "Unknown" "" "ABCA4 related retinopathy; based on characteristic findings on indirect ophthalmoscopy, optical coherence tomography, and conventional fundus AF imaging" "<14y" "" "0" "" "" "" "" "" "" "" ""
"0000058223" "00198" "00078448" "01695" "Unknown" "" "ABCA4 related retinopathy; based on characteristic findings on indirect ophthalmoscopy, optical coherence tomography, and conventional fundus AF imaging" "<20y" "" "0" "" "" "" "" "" "" "" ""
"0000058224" "00198" "00078449" "01695" "Unknown" "" "ABCA4 related retinopathy; based on characteristic findings on indirect ophthalmoscopy, optical coherence tomography, and conventional fundus AF imaging" "<10y" "" "0" "" "" "" "" "" "" "" ""
"0000058225" "00198" "00078450" "01695" "Unknown" "" "ABCA4 related retinopathy; based on characteristic findings on indirect ophthalmoscopy, optical coherence tomography, and conventional fundus AF imaging" "<31y" "" "0" "" "" "" "" "" "" "" ""
"0000058226" "00198" "00078451" "01695" "Unknown" "" "ABCA4 related retinopathy; based on characteristic findings on indirect ophthalmoscopy, optical coherence tomography, and conventional fundus AF imaging" "<36y" "" "0" "" "" "" "" "" "" "" ""
"0000058227" "00198" "00078452" "01695" "Unknown" "" "ABCA4 related retinopathy; based on characteristic findings on indirect ophthalmoscopy, optical coherence tomography, and conventional fundus AF imaging" "<25y" "" "0" "" "" "" "" "" "" "" ""
"0000058228" "00198" "00078453" "01695" "Unknown" "" "ABCA4 related retinopathy; based on characteristic findings on indirect ophthalmoscopy, optical coherence tomography, and conventional fundus AF imaging" "<14y" "" "0" "" "" "" "" "" "" "" ""
"0000058229" "00058" "00078454" "01695" "Unknown" "" "cone-rod dystrophy (HP:0000510)" "47y" "" "0" "" "" "" "" "" "" "" ""
"0000058230" "00420" "00078455" "01695" "Unknown" "" "Stargardt disease" "48y" "" "0" "" "" "" "" "" "" "" ""
"0000058231" "00058" "00078456" "01695" "Unknown" "" "cone-rod dystrophy (HP:0000510)" "16y" "" "0" "" "" "" "" "" "" "" ""
"0000058232" "00420" "00078457" "01695" "Unknown" "" "Stargardt disease" ">37y" "" "0" "" "" "" "" "" "" "" ""
"0000058233" "00420" "00078458" "01695" "Unknown" "" "Stargardt disease" ">18y" "" "0" "" "" "" "" "" "" "" ""
"0000058234" "00420" "00078459" "01695" "Unknown" "" "Stargardt disease" "6y" "" "0" "" "" "" "" "" "" "" ""
"0000058235" "00420" "00078460" "01695" "Unknown" "" "Stargardt disease" ">40y" "" "0" "" "" "" "" "" "" "" ""
"0000058236" "00420" "00078461" "01695" "Unknown" "" "Stargardt disease" "20y" "" "0" "" "" "" "" "" "" "" ""
"0000058237" "00058" "00078462" "01695" "Unknown" "" "cone-rod dystrophy (HP:0000510)" "47y" "" "0" "" "" "" "" "" "" "" ""
"0000058238" "00420" "00078463" "01695" "Unknown" "" "Stargardt disease" "0y" "" "0" "" "" "" "" "" "" "" ""
"0000058239" "00420" "00078464" "01695" "Unknown" "" "Stargardt disease" "21y" "" "0" "" "" "" "" "" "" "" ""
"0000058240" "00420" "00078465" "01695" "Unknown" "" "Stargardt disease" "19y" "" "0" "" "" "" "" "" "" "" ""
"0000058241" "00420" "00078466" "01695" "Unknown" "" "Stargardt disease" "23y" "" "0" "" "" "" "" "" "" "" ""
"0000058242" "00420" "00078467" "01695" "Unknown" "" "Stargardt disease" "18y" "" "0" "" "" "" "" "" "" "" ""
"0000058243" "00058" "00078468" "01695" "Unknown" "" "cone-rod dystrophy (HP:0000510)" "6y" "" "0" "" "" "" "" "" "" "" ""
"0000058244" "00058" "00078469" "01695" "Unknown" "" "cone-rod dystrophy (HP:0000510)" "1y" "" "0" "" "" "" "" "" "" "" ""
"0000058245" "00058" "00078470" "01695" "Unknown" "" "cone-rod dystrophy (HP:0000510)" "0y" "" "0" "" "" "" "" "" "" "" ""
"0000058246" "00058" "00078471" "01695" "Unknown" "" "cone-rod dystrophy (HP:0000510)" "0y" "" "0" "" "" "" "" "" "" "" ""
"0000058247" "00058" "00078472" "01695" "Unknown" "" "cone-rod dystrophy (HP:0000510)" "9y" "" "0" "" "" "" "" "" "" "" ""
"0000058248" "00058" "00078473" "01695" "Unknown" "" "cone-rod dystrophy (HP:0000510)" "12y" "" "0" "" "" "" "" "" "" "" ""
"0000058249" "00058" "00078474" "01695" "Unknown" "" "cone-rod dystrophy (HP:0000510)" "11y" "" "0" "" "" "" "" "" "" "" ""
"0000058250" "00420" "00078475" "01695" "Unknown" "" "Stargardt disease" "48y" "" "0" "" "" "" "" "" "" "" ""
"0000058251" "00420" "00078476" "01695" "Unknown" "" "Stargardt disease" "43y" "" "0" "" "" "" "" "" "" "" ""
"0000058252" "00058" "00078477" "01695" "Unknown" "" "cone-rod dystrophy (HP:0000510)" "0y" "" "0" "" "" "" "" "" "" "" ""
"0000058253" "00420" "00078478" "01695" "Unknown" "" "Stargardt disease" "7y" "" "0" "" "" "" "" "" "" "" ""
"0000058254" "00420" "00078479" "01695" "Unknown" "" "Stargardt disease" "36y" "" "0" "" "" "" "" "" "" "" ""
"0000058255" "00420" "00078480" "01695" "Unknown" "" "Stargardt disease" "37y" "" "0" "" "" "" "" "" "" "" ""
"0000058256" "00058" "00078481" "01695" "Unknown" "" "cone-rod dystrophy (HP:0000510)" "0y" "" "0" "" "" "" "" "" "" "" ""
"0000058257" "00420" "00078482" "01695" "Unknown" "" "Stargardt disease" "30y" "" "0" "" "" "" "" "" "" "" ""
"0000058258" "00420" "00078483" "01695" "Unknown" "" "Stargardt disease" "39y" "" "0" "" "" "" "" "" "" "" ""
"0000058259" "00420" "00078484" "01695" "Unknown" "" "Stargardt disease" "37y" "" "0" "" "" "" "" "" "" "" ""
"0000058260" "00420" "00078485" "01695" "Unknown" "" "Stargardt disease" "34y" "" "0" "" "" "" "" "" "" "" ""
"0000058261" "00420" "00078486" "01695" "Unknown" "" "Stargardt disease" "26y" "" "0" "" "" "" "" "" "" "" ""
"0000058262" "00420" "00078487" "01695" "Unknown" "" "Stargardt disease" "31y" "" "0" "" "" "" "" "" "" "" ""
"0000058263" "00420" "00078488" "01695" "Unknown" "" "Stargardt disease" "14y" "" "0" "" "" "" "" "" "" "" ""
"0000058264" "00420" "00078489" "01695" "Unknown" "" "Stargardt disease" "19y" "" "0" "" "" "" "" "" "" "" ""
"0000058265" "00058" "00078490" "01695" "Unknown" "" "cone-rod dystrophy (HP:0000510)" "4y" "" "0" "" "" "" "" "" "" "" ""
"0000058266" "00420" "00078491" "01695" "Unknown" "" "Stargardt disease" "32y" "" "0" "" "" "" "" "" "" "" ""
"0000058267" "00420" "00078492" "01695" "Unknown" "" "Stargardt disease" "26y" "" "0" "" "" "" "" "" "" "" ""
"0000058268" "00420" "00078493" "01695" "Unknown" "" "Stargardt disease" "17y" "" "0" "" "" "" "" "" "" "" ""
"0000058269" "00058" "00078494" "01695" "Unknown" "" "cone-rod dystrophy (HP:0000510)" "21y" "" "0" "" "" "" "" "" "" "" ""
"0000058270" "00420" "00078495" "01695" "Unknown" "" "Stargardt disease" "67y" "" "0" "" "" "" "" "" "" "" ""
"0000058271" "00058" "00078496" "01695" "Unknown" "" "cone-rod dystrophy (HP:0000510)" "49y" "" "0" "" "" "" "" "" "" "" ""
"0000058272" "00420" "00078497" "01695" "Unknown" "" "Stargardt disease" "45y" "" "0" "" "" "" "" "" "" "" ""
"0000058273" "00058" "00078498" "01695" "Unknown" "" "cone-rod dystrophy (HP:0000510)" "26y" "" "0" "" "" "" "" "" "" "" ""
"0000058274" "00420" "00078499" "01695" "Unknown" "" "Stargardt disease" "38y" "" "0" "" "" "" "" "" "" "" ""
"0000058275" "00420" "00078500" "01695" "Unknown" "" "Stargardt disease" "53y" "" "0" "" "" "" "" "" "" "" ""
"0000058276" "00420" "00078501" "01695" "Unknown" "" "Stargardt disease" "46y" "" "0" "" "" "" "" "" "" "" ""
"0000058277" "00420" "00078502" "01695" "Unknown" "" "Stargardt disease" "14y" "" "0" "" "" "" "" "" "" "" ""
"0000058278" "00420" "00078503" "01695" "Unknown" "" "Stargardt disease" "34y" "" "0" "" "" "" "" "" "" "" ""
"0000058279" "00420" "00078504" "01695" "Unknown" "" "Stargardt disease" "35y" "" "0" "" "" "" "" "" "" "" ""
"0000058280" "00420" "00078505" "01695" "Unknown" "" "Stargardt disease" "25y" "" "0" "" "" "" "" "" "" "" ""
"0000058281" "00420" "00078506" "01695" "Unknown" "" "Stargardt disease" "39y" "" "0" "" "" "" "" "" "" "" ""
"0000058282" "00420" "00078507" "01695" "Unknown" "" "Stargardt disease" "41y" "" "0" "" "" "" "" "" "" "" ""
"0000058283" "00420" "00078508" "01695" "Unknown" "" "Stargardt disease" "51y" "" "0" "" "" "" "" "" "" "" ""
"0000058284" "00420" "00078509" "01695" "Unknown" "" "Stargardt disease" "19y" "" "0" "" "" "" "" "" "" "" ""
"0000058285" "00420" "00078510" "01695" "Unknown" "" "Stargardt disease" "18y" "" "0" "" "" "" "" "" "" "" ""
"0000058286" "00420" "00078511" "01695" "Unknown" "" "Stargardt disease" "55y" "" "0" "" "" "" "" "" "" "" ""
"0000058287" "00058" "00078512" "01695" "Unknown" "" "cone-rod dystrophy (HP:0000510)" "2y" "" "0" "" "" "" "" "" "" "" ""
"0000058288" "00420" "00078513" "01695" "Unknown" "" "Stargardt disease" "31y" "" "0" "" "" "" "" "" "" "" ""
"0000058289" "00420" "00078514" "01695" "Unknown" "" "Stargardt disease" "30y" "" "0" "" "" "" "" "" "" "" ""
"0000058290" "00420" "00078515" "01695" "Unknown" "" "Stargardt disease" "43y" "" "0" "" "" "" "" "" "" "" ""
"0000058291" "00420" "00078516" "01695" "Unknown" "" "Stargardt disease" "39y" "" "0" "" "" "" "" "" "" "" ""
"0000058292" "00420" "00078517" "01695" "Unknown" "" "Stargardt disease" "26y" "" "0" "" "" "" "" "" "" "" ""
"0000058293" "00420" "00078518" "01695" "Unknown" "" "Stargardt disease" "55y" "" "0" "" "" "" "" "" "" "" ""
"0000058294" "00420" "00078519" "01695" "Unknown" "" "Stargardt disease" "49y" "" "0" "" "" "" "" "" "" "" ""
"0000058295" "00420" "00078520" "01695" "Unknown" "" "Stargardt disease; Cone and rod spacing were increased with a dark cone appearance. No foveal cones were detected." "" "" "0" "" "" "" "" "" "" "" ""
"0000058296" "00420" "00078521" "01695" "Unknown" "" "Stargardt disease; Cone and rod spacing were increased with a dark cone appearance. Foveal cones were enlarged with low density." "" "" "0" "" "" "" "" "" "" "" ""
"0000058297" "00420" "00078522" "01695" "Unknown" "22y" "Stargardt disease, 22y-diminished visual acuity; photophobia" "22y" "" "decreased visual acuity" "" "" "" "" "" "" "" ""
"0000060354" "04215" "00080784" "01763" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000060355" "04215" "00080785" "01763" "Unknown" "" "" "" "23y" "" "" "" "" "" "" "" "" ""
"0000060356" "01425" "00080786" "01763" "Unknown" "16y" "" "" "" "" "" "" "" "" "" "" "" ""
"0000060357" "04215" "00080787" "01763" "Familial, autosomal recessive" "" "" "" "20y" "" "" "" "" "" "" "" "" ""
"0000060358" "04215" "00080789" "01763" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000060360" "04214" "00080791" "01763" "Familial, autosomal recessive" "" "" "" "08y" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000060675" "00420" "00080783" "01763" "Unknown" "" "retinal dystrophy, early-onset severe, OMIM 248200" "" "" "" "" "" "" "" "" "" "" ""
"0000060676" "00347" "00080788" "01763" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000069512" "00420" "00090137" "00717" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000081829" "00198" "00103902" "00006" "Familial, autosomal recessive" "" "Cone-rod dystrophy" "" "" "" "" "" "" "" "" "" "" ""
"0000082882" "04213" "00104993" "01244" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000083101" "00058" "00105211" "01244" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000116744" "04214" "00143966" "01780" "Familial, autosomal recessive" "" "Age examination 30: first symptom: poor vision, night blindness; visual acuity OD/OS: 0,3/0,4, fundus exam.: attenuated retinal arteries, pigment deposit, no foveal reflex" "13y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000117813" "03946" "00145073" "02348" "Familial, autosomal recessive" "41y" "HP:0007663, reduced visual acuity; HP:0000505, visual impairment; HP:0007722, retinal pigment epithelial atrophy; HP:0007843, attenuation of retinal blood vessels; HP:0007737; bone spicule pigmentation of the retina; HP:0001133, constriction of peripheral visual field; HP:0000662, nyctalopia" "16y" "41y" "" "" "" "" "" "" "" "" ""
"0000123815" "04211" "00151424" "00006" "Familial, autosomal recessive" "19y" "see paper; ..., retinitis pigmentosa (HP:0000510), short stature (HP:0004322), microcephaly (HP:0000252 ), recurrent glomerulonephritis (HP:0000099);height 143cm (SD-3.4), OFC (SD-3.8); best corrected visual acuity 0.5; 6y-myopia; mild central posterior subcapsular cataract; very thin habitus; early fast puberty; recurrent glomerulonephritis ; painful muscle cramps, elevated CK; no skeletal abnormalities; no heart abnormalities; wide mouth, prognathia, midface hypoplasia; normal hair; soft skin" "14y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000124391" "00420" "00152045" "02383" "Familial, autosomal recessive" "" "Patient has severe STGD1 with VA of 20/200, bilateral bull\'s eye maculopathy with dull fovea reflex, peripheral flecks, bilateral dark choroid with central RPE disruption, paracentral pisciform lesions on fluorescence angiography, and central outer retinal disruption as visualized by SD-OCT. The ERG measurements displayed severely reduced cone response but near normal rod response." "10y" "11y" "" "" "" "" "" "" "" "" ""
"0000125619" "00000" "00152690" "02383" "Unknown" "53y" "This patient has normal 20/20 visual acuity and no signs of STGD1. This patient is a carrier of the p.Gly1961Glu mutation." "" "" "" "" "" "" "" "" "" "" ""
"0000125620" "00420" "00152691" "02383" "Familial, autosomal recessive" "22y" "Visual acuity 20/30 and stage 1 Fishman Classification for Stargardt disease." "" "" "" "" "" "" "" "" "" "" ""
"0000125621" "00420" "00152692" "02383" "Familial, autosomal recessive" "28y" "Patient has visual acuity of 20/200 and is therefore legally blind. This patient displayed considerable foveal retinal pigment epithelium (RPE) atrophy accounting for poor visual acuity." "" "" "" "" "" "" "" "" "" "" ""
"0000125622" "00420" "00152693" "02383" "Familial, autosomal recessive" "30y" "This patient displayed mild STGD1 with stage 2 Fishman Classification of Stargardt disease and 20/30 visual acuity." "" "" "" "" "" "" "" "" "" "" ""
"0000125646" "00420" "00152703" "02383" "Familial, autosomal recessive" "55y" "Patient has 20/40 visual acuity and stage 3 Fishman Classification for Stargardt disease." "" "" "" "" "" "" "" "" "" "" ""
"0000125648" "00420" "00152705" "02383" "Familial, autosomal recessive" ">13y" "Patient has early onset of disease with a visual acuity of 20/200 and stage 4 Fishman classification of Stargardt disease." "" "" "" "" "" "" "" "" "" "" ""
"0000125649" "00420" "00152706" "02383" "Familial, autosomal recessive" "30y" "Patient has poor visual acuity 20/160 and stage 4 (advanced) Fishman classification of Stargardt disease." "" "" "" "" "" "" "" "" "" "" ""
"0000125650" "00420" "00152707" "02383" "Familial, autosomal recessive" "36y" "Patient has poor visual acuity of 20/200 and stage 4 (advanced) Fishman classification of Stargardt disease." "" "" "" "" "" "" "" "" "" "" ""
"0000125661" "00420" "00152718" "02383" "Familial, autosomal recessive" "45y" "Patient has 20/200 visual acuity and stage 4 (advanced) Fishman classification of Stargardt disease." "" "" "" "" "" "" "" "" "" "" ""
"0000125662" "00420" "00152719" "02383" "Familial, autosomal recessive" "" "20/400 visual acuity, stage 3 Fishman classification of Stargardt disease" "" "" "" "" "" "" "" "" "" "" ""
"0000127817" "00420" "00155317" "01243" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000127818" "05412" "00155318" "01243" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Maculopathy" ""
"0000127819" "00420" "00155319" "01243" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000127820" "04210" "00155320" "01243" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000127821" "00420" "00155321" "01243" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000127822" "00420" "00155322" "01243" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000127823" "04214" "00155323" "01243" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000127824" "00420" "00155324" "01243" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000127825" "00420" "00155325" "01243" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000127826" "00420" "00155326" "01243" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000127827" "00420" "00155327" "01243" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000127828" "00420" "00155328" "01243" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000127829" "00420" "00155329" "01243" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000127830" "00420" "00155330" "01243" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000127831" "05412" "00155331" "01243" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Maculopathy" ""
"0000127832" "00420" "00155332" "01243" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000127833" "05412" "00155333" "01243" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Maculopathy" ""
"0000127834" "00420" "00155334" "01243" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000127835" "00420" "00155335" "01243" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000127836" "00420" "00155336" "01243" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000127837" "05412" "00155337" "01243" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Maculopathy" ""
"0000127838" "00420" "00155338" "01243" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000127839" "05412" "00155339" "01243" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Maculopathy" ""
"0000127840" "00420" "00155340" "01243" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000127841" "00420" "00155341" "01243" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000127842" "00420" "00155342" "01243" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000127843" "00420" "00155343" "01243" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000127844" "04214" "00155344" "01243" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000127845" "05412" "00155345" "01243" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Maculopathy" ""
"0000127846" "04210" "00155346" "01243" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000127847" "00420" "00155347" "01243" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000127848" "04210" "00155348" "01243" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000127849" "00420" "00155349" "01243" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000127850" "00420" "00155350" "01243" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000127851" "04210" "00155351" "01243" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000127852" "00420" "00155352" "01243" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000127853" "04214" "00155353" "01243" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000127854" "04214" "00155354" "01243" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000127855" "04210" "00155355" "01243" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000127856" "05412" "00155356" "01243" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Maculopathy" ""
"0000127857" "04214" "00155357" "01243" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000127858" "00420" "00155358" "01243" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000127859" "04210" "00155359" "01243" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000127860" "00420" "00155360" "01243" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000127861" "00420" "00155361" "01243" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000127862" "00420" "00155362" "01243" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000127863" "04210" "00155363" "01243" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000127864" "05412" "00155364" "01243" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Maculopathy" ""
"0000127865" "00420" "00155365" "01243" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000127866" "04214" "00155366" "01243" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000127867" "00420" "00155367" "01243" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000127868" "00420" "00155368" "01243" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000127869" "04210" "00155369" "01243" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000127870" "00420" "00155370" "01243" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000127871" "04210" "00155371" "01243" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000127872" "00420" "00155372" "01243" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000129686" "04215" "00164649" "00006" "Familial, autosomal recessive" "40y" "extensive areas retinal pigment epithelium atrophy throughout posterior pole, extending beyond vascular arcades" "" "16y" "" "" "" "" "" "" "STGD-1" "Stargardt disease, typical" ""
"0000129687" "04215" "00164650" "00006" "Familial, autosomal recessive" "37y" "22y-reduced visual acuity; extensive areas retinal pigment epithelium atrophy throughout posterior pole, extending beyond vascular arcades; 35y-ERG cone and rod responses significantly and equally reduced" "" "35y" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000129688" "04215" "00164651" "00006" "Familial, autosomal recessive" "53y" "extensive areas retinal pigment epithelium atrophy throughout posterior pole, extending beyond vascular arcades; 49y-ERG cone and rod responses significantly and equally reduced" "" "49y" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000135709" "04215" "00170848" "00244" "Familial, autosomal recessive" "34y" "" "10y" "" "" "" "" "" "" "" "" "" ""
"0000135710" "04213" "00170849" "00244" "Familial, autosomal recessive" "" "" "02y" "05y" "" "" "" "" "" "" "" "" ""
"0000135711" "04214" "00170850" "00244" "Isolated (sporadic)" "69y" "" "40y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000144016" "00420" "00183268" "02597" "Familial, autosomal recessive" "40y" "HP:0000608, HP:0007722, HP:0000613" "20y" "20y" "" "" "" "" "" "" "STGD-1" "" ""
"0000144059" "00420" "00183333" "02597" "Familial, autosomal recessive" "17y" "HP:0000608, HP:0007663" "16y" "16y" "HP0007663" "" "" "" "" "" "STGD-1" "STGD-1" ""
"0000144096" "00420" "00183360" "02597" "Familial, autosomal recessive" "20y" "HP0000608\r\nHP0007663" "17y" "17y" "HP0007663" "" "" "" "" "" "STGD-1" "STGD-1" ""
"0000144097" "00420" "00183362" "02597" "Familial, X-linked recessive" "10y" "HP0000608\r\nHP0000551\r\nHP0007663" "09y" "09y" "HP0007663" "" "" "" "" "" "STGD-1" "STGD-1" ""
"0000144098" "00420" "00183364" "02597" "Familial, autosomal recessive" "18y" "HP0000608\r\nHP0007663" "15y" "15y" "HP0007663" "" "" "" "" "" "STGD-1" "STGD-1" ""
"0000144099" "00420" "00183369" "02597" "Familial, autosomal recessive" "48y" "HP0000608\r\nHP0007722\r\nHP0007663" "44y" "44y" "HP0007663" "" "" "" "" "" "STGD-1" "STGD-1" ""
"0000155405" "04215" "00207594" "01244" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000155463" "04214" "00207674" "01244" "Familial" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000155490" "04214" "00207699" "01244" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000157611" "00381" "00209006" "00006" "Familial, autosomal recessive" "" "Retinal dystrophy" "" "" "" "" "" "" "" "" "STGD-1" "retinal dystrophy" ""
"0000157619" "00381" "00209014" "00006" "Familial, autosomal recessive" "" "Retinal dystrophy" "" "" "" "" "" "" "" "" "STGD-1" "retinal dystrophy" ""
"0000157620" "00381" "00209015" "00006" "Familial, autosomal recessive" "" "Retinal dystrophy" "" "" "" "" "" "" "" "" "STGD-1" "retinal dystrophy" ""
"0000157635" "00381" "00209029" "00006" "Familial, autosomal recessive" "" "Retinal dystrophy" "" "" "" "" "" "" "" "" "STGD-1" "retinal dystrophy" ""
"0000173143" "00420" "00230661" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173144" "00420" "00230662" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173145" "00420" "00230663" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173146" "00420" "00230664" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173147" "00420" "00230665" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173148" "00420" "00230666" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173149" "00420" "00230667" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173150" "00420" "00230668" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173151" "00420" "00230669" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173152" "00420" "00230670" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173153" "00420" "00230671" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173154" "00420" "00230672" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173155" "00420" "00230673" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173156" "00420" "00230674" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173157" "00420" "00230675" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173158" "00420" "00230676" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173159" "00420" "00230677" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173160" "00420" "00230678" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173161" "00420" "00230679" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173162" "00420" "00230680" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173163" "00420" "00230681" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173164" "00420" "00230682" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173165" "00420" "00230683" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173166" "00420" "00230684" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173167" "00420" "00230685" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173168" "00420" "00230686" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173169" "00420" "00230687" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173170" "00420" "00230688" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173171" "00420" "00230689" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173172" "00420" "00230690" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173173" "00420" "00230691" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173174" "00420" "00230692" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173175" "00420" "00230693" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173176" "00420" "00230694" "01695" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173177" "00420" "00230695" "01695" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173178" "00420" "00230696" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173179" "00420" "00230697" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173180" "00420" "00230698" "01695" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173181" "00420" "00230699" "01695" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173182" "00420" "00230700" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173183" "00420" "00230701" "01695" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173184" "00420" "00230702" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173185" "00420" "00230703" "01695" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173186" "00420" "00230704" "01695" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173187" "00420" "00230705" "01695" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173188" "00420" "00230706" "01695" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173189" "00420" "00230707" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173190" "00420" "00230708" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173191" "00420" "00230709" "01695" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173192" "00420" "00230710" "01695" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173193" "00420" "00230711" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173194" "00420" "00230712" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173195" "00420" "00230713" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173196" "00420" "00230714" "01695" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173197" "00420" "00230715" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173198" "00420" "00230716" "01695" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173199" "00420" "00230717" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173200" "00420" "00230718" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173201" "00420" "00230719" "01695" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173202" "00420" "00230720" "01695" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173203" "00420" "00230721" "01695" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173204" "00420" "00230722" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173205" "00420" "00230723" "01695" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173206" "00420" "00230724" "01695" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173207" "00420" "00230725" "01695" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173208" "00420" "00230726" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173209" "00420" "00230727" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173210" "00420" "00230728" "01695" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173211" "00420" "00230729" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173212" "00420" "00230730" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173213" "00420" "00230731" "01695" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173214" "00420" "00230732" "01695" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173215" "00420" "00230733" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173216" "00420" "00230734" "01695" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173217" "00420" "00230735" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173218" "00420" "00230736" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173219" "00420" "00230737" "01695" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173220" "00420" "00230738" "01695" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173221" "00420" "00230739" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173222" "00420" "00230740" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173223" "00420" "00230741" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173224" "00420" "00230742" "01695" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173225" "00420" "00230743" "01695" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173226" "00420" "00230744" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173227" "00420" "00230745" "01695" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173228" "00420" "00230746" "01695" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173229" "00420" "00230747" "01695" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173230" "00420" "00230748" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173231" "00420" "00230749" "01695" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173232" "00420" "00230750" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173233" "00420" "00230751" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173234" "00420" "00230752" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173235" "00420" "00230753" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173236" "00420" "00230754" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173237" "00420" "00230755" "01695" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173238" "00420" "00230756" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173239" "00420" "00230757" "01695" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173240" "00420" "00230758" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173241" "00420" "00230759" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173242" "00420" "00230760" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173243" "00420" "00230761" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173244" "00420" "00230762" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173245" "00420" "00230763" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173246" "00420" "00230764" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173247" "00420" "00230765" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173248" "00420" "00230766" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173249" "00420" "00230767" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173250" "00420" "00230768" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173251" "00420" "00230769" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173252" "00420" "00230770" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173253" "00420" "00230771" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173254" "00420" "00230772" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173255" "00420" "00230773" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173256" "00420" "00230774" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173257" "00420" "00230775" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173258" "00420" "00230776" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173259" "00420" "00230777" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173260" "00420" "00230778" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173261" "00420" "00230779" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173262" "00420" "00230780" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173263" "00420" "00230781" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173264" "00420" "00230782" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173265" "00420" "00230783" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173266" "00420" "00230784" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173267" "00420" "00230785" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173268" "00420" "00230786" "01695" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173269" "00420" "00230787" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173270" "00420" "00230788" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173271" "00420" "00230789" "01695" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173272" "00420" "00230790" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173273" "00420" "00230791" "01695" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173274" "00420" "00230792" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173275" "00420" "00230793" "01695" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173276" "00420" "00230794" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173277" "00420" "00230795" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173278" "00420" "00230796" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173279" "00420" "00230797" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173280" "00420" "00230798" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173281" "00420" "00230799" "01695" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173282" "00420" "00230800" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173283" "00420" "00230801" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173284" "00420" "00230802" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173285" "00420" "00230803" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173286" "00420" "00230804" "01695" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173287" "00420" "00230805" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173288" "00420" "00230806" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173289" "00420" "00230807" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173290" "00420" "00230808" "01695" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173291" "00420" "00230809" "01695" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173292" "00420" "00230810" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173293" "00420" "00230811" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173294" "00420" "00230812" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173295" "00420" "00230813" "01695" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173296" "00420" "00230814" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173297" "00420" "00230815" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173298" "00420" "00230816" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173299" "00420" "00230817" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173300" "00420" "00230818" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173301" "00420" "00230819" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173302" "00420" "00230820" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173303" "00420" "00230821" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173304" "00420" "00230822" "01695" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173305" "00420" "00230823" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173306" "00420" "00230824" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173307" "00420" "00230825" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173308" "00420" "00230826" "01695" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173309" "00420" "00230827" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173310" "00420" "00230828" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173311" "00420" "00230829" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173312" "00420" "00230830" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173313" "00420" "00230831" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173314" "00420" "00230832" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173315" "00420" "00230833" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173316" "00420" "00230834" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173317" "00420" "00230835" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173318" "00420" "00230836" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173319" "00420" "00230837" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173320" "00420" "00230838" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173321" "00420" "00230839" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173322" "00420" "00230840" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173323" "00420" "00230841" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173324" "00420" "00230842" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173325" "00420" "00230843" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173326" "00420" "00230844" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173327" "00420" "00230845" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173328" "00420" "00230846" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173329" "00420" "00230847" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173330" "00420" "00230848" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173331" "00420" "00230849" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173332" "00420" "00230850" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173333" "00420" "00230851" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173334" "00420" "00230852" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173335" "00420" "00230853" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173336" "00420" "00230854" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173337" "00420" "00230855" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173338" "00420" "00230856" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173339" "00420" "00230857" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173340" "00420" "00230858" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173341" "00420" "00230859" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173342" "00420" "00230860" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173343" "00420" "00230861" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173344" "00420" "00230862" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173345" "00420" "00230863" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173346" "00420" "00230864" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173347" "00420" "00230865" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173348" "00420" "00230866" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173349" "00420" "00230867" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173350" "00420" "00230868" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173351" "00420" "00230869" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173352" "00420" "00230870" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173353" "00420" "00230871" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173354" "00420" "00230872" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173355" "00420" "00230873" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173356" "00420" "00230874" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173357" "00420" "00230875" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173358" "00420" "00230876" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173359" "00420" "00230877" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173360" "00420" "00230878" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173361" "00420" "00230879" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173362" "00420" "00230880" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173363" "00420" "00230881" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173364" "00420" "00230882" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173365" "00420" "00230883" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173366" "00420" "00230884" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173367" "00420" "00230885" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173368" "00420" "00230886" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173369" "00420" "00230887" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173370" "00420" "00230888" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173371" "00420" "00230889" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173372" "00420" "00230890" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173373" "00420" "00230891" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173374" "00420" "00230892" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173375" "00420" "00230893" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173376" "00420" "00230894" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173377" "00420" "00230895" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173378" "00420" "00230896" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173379" "00420" "00230897" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173380" "00420" "00230898" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173381" "00420" "00230899" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173382" "00420" "00230900" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173383" "00420" "00230901" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173384" "00420" "00230902" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173385" "00420" "00230903" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173386" "00420" "00230904" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173387" "00420" "00230905" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173388" "00420" "00230906" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173389" "00420" "00230907" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173390" "00420" "00230908" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173391" "00420" "00230909" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173392" "00420" "00230910" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173393" "00420" "00230911" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173394" "00420" "00230912" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173395" "00420" "00230913" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173396" "00420" "00230914" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173397" "00420" "00230915" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173398" "00420" "00230916" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173399" "00420" "00230917" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173400" "00420" "00230918" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173401" "00420" "00230919" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173402" "00420" "00230920" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173403" "00420" "00230921" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173404" "00420" "00230922" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173405" "00420" "00230923" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173406" "00420" "00230924" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173407" "00420" "00230925" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173408" "00420" "00230926" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173409" "00420" "00230927" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173410" "00420" "00230928" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173411" "00420" "00230929" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173412" "00420" "00230930" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173413" "00420" "00230931" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173414" "00420" "00230932" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173415" "00420" "00230933" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173416" "00420" "00230934" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173417" "00420" "00230935" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173418" "00420" "00230936" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173419" "00420" "00230937" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173420" "00420" "00230938" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173421" "00420" "00230939" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173422" "00420" "00230940" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173423" "00420" "00230941" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173424" "00420" "00230942" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173425" "00420" "00230943" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173426" "00420" "00230944" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173427" "00420" "00230945" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173428" "00420" "00230946" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173429" "00420" "00230947" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000173430" "00420" "00230948" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000174246" "00198" "00233811" "00020" "Familial, autosomal recessive" "90y" "visual acuity now R-counting vingers L-counting vingers; central scotoma (HP:0000603); mild central vision defect" "" "20y" "" "" "" "" "" "" "" "central choroidal sclerosis" ""
"0000174247" "04215" "00233812" "00020" "Familial, autosomal recessive" "75y" "visual acuity now R-counting vingers 3 ft L- hand motion; central scotoma (HP:0000603); medium central vision defect" "" "45y" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000174248" "00198" "00233816" "00020" "Familial, autosomal recessive" "71y" "visual acuity now R-hand motion L-hand motion; peripheral islands; severe central vision defect" "" "11y" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000174249" "00198" "00233817" "00020" "Familial, autosomal recessive" "38y" "visual acuity now R-20/400 L-20/400; peripheral islands; severe central vision defect; ERG rod-dec/cone-dec" "" "8y" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000174250" "00198" "00233818" "00020" "Familial, autosomal recessive" "39y" "visual acuity now R-20/400 L-counting vingers; mid-peripheral islands only; severe central vision defect; ERG rod-dec/cone-dec" "" "12y" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000174251" "00198" "00233819" "00020" "Familial, autosomal recessive" "41y" "visual acuity now R-20/200 L-20/400; central scotoma (HP:0000603); ERG rod-dec/cone-normal" "" "13y" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000174252" "00198" "00233820" "00020" "Familial, autosomal recessive" "14y" "visual acuity now R-20/500 L-20/300; central scotoma (HP:0000603); mild central vision defect; ERG rod-dec/cone-dec" "" "8y" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000174253" "04215" "00233821" "00020" "Familial, autosomal recessive" "62y" "visual acuity now R-20/200 L-20/50; central scotoma (HP:0000603); severe central vision defect; ERG rod-dec/cone-normal" "" "39y" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000174254" "04215" "00233822" "00020" "Familial, autosomal recessive" "63y" "visual acuity now R-20/30 L-counting vingers; central scotoma (HP:0000603)" "" "46y" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000174255" "04215" "00233823" "00020" "Familial, autosomal recessive" "52y" "visual acuity now R-20/400 L-20/40; central scotoma (HP:0000603); ERG rod-slight dec/cone-normal" "" "41y" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000174256" "00198" "00233826" "00020" "Familial, autosomal recessive" "35y" "visual acuity now R-20/400 L-20/400; central scotoma (HP:0000603); mild central vision defect; ERG rod-normal/cone-slight dec" "" "17y" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000174257" "00198" "00233827" "00020" "Familial, autosomal recessive" "16y" "visual acuity now R-20/400 L-20/400; central scotoma (HP:0000603); mild central vision defect; ERG rod-normal" "" "14y" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000174258" "00198" "00233828" "00020" "Familial, autosomal recessive" "20y" "visual acuity now R-20/300 L-20/300; central scotoma (HP:0000603); mild central vision defect; ERG rod-dec/cone-normal" "" "18y" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000174259" "00198" "00233830" "00020" "Familial, autosomal recessive" "57y" "visual acuity now R-20/400 L-counting vingers; peripheral islands; severe central vision defect; ERG rod-dec/cone-dec" "" "14y" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000174260" "00000" "00233831" "00020" "Familial, autosomal recessive" "51y" "visual acuity now R-counting vingers L-20/400" "" "20y" "" "" "" "" "" "" "" "" ""
"0000174261" "00000" "00233832" "00020" "Familial, autosomal recessive" "52y" "visual acuity now R-20/200 L-20/200" "" "14y" "" "" "" "" "" "" "" "" ""
"0000174262" "04215" "00233835" "00020" "Familial, autosomal recessive" "36y" "visual acuity now R-20/20 L-20/25; small central scotoma (HP:0000603); no central vision defect" "" "34y" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000174263" "00000" "00233836" "00020" "Familial, autosomal recessive" "32y" "visual acuity now R-20/50-1 L-20/40-1; central scotoma (HP:0000603); ERG rod-slight dec/cone-slight dec" "" "12y" "" "" "" "" "" "" "" "" ""
"0000174264" "04215" "00233837" "00020" "Familial, autosomal recessive" "50y" "visual acuity now R-20/80 L-20/150; small central scotoma (HP:0000603); ERG rod-slight dec/cone-normal" "" "" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000174265" "04215" "00233839" "00020" "Familial, autosomal recessive" "47y" "visual acuity now L-20/20 R-20/20; central scotoma (-HP:0000603)" "" "45y" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000174266" "04215" "00233841" "00020" "Familial, autosomal recessive" "56y" "visual acuity now R-20/60 L-20/40; central scotoma (HP:0000603); ERG rod-slight dec/cone-slight dec" "" "52y" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000174267" "04215" "00233842" "00020" "Familial, autosomal recessive" "66y" "visual acuity now R-20/80 L-counting vingers; central scotoma (HP:0000603); severe central vision defect; ERG rod-slight dec/cone-slight dec" "" "47y" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000174268" "00198" "00233845" "00020" "Familial, autosomal recessive" "52y" "visual acuity now R-20/400 L-20/300; central scotoma (HP:0000603); no central vision defect; ERG rod-dec/cone-normal" "" "26y" "" "" "" "" "" "" "" "atrophic macula" ""
"0000174269" "04215" "00233846" "00020" "Familial, autosomal recessive" "63y" "visual acuity now R-counting vingers L-counting vingers; mild central vision defect; ERG rod-normal/cone-normal" "" "23y" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000174270" "04215" "00233847" "00020" "Familial, autosomal recessive" "56y" "visual acuity now R-20/400 L-20/200; central scotoma (HP:0000603); mild central vision defect; ERG rod-normal/cone-normal" "" "26y" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000174271" "00198" "00233849" "00020" "Familial, autosomal recessive" "67y" "visual acuity now R-counting vingers L-counting vingers; central scotoma correct; ERG rod-dec/cone-dec" "" "12y" "" "" "" "" "" "" "" "cone-rod dystrophy correct" ""
"0000174272" "04215" "00233850" "00020" "Familial, autosomal recessive" "46y" "visual acuity now R-20/60 L-20/20; central scotoma (-HP:0000603); no central vision defect; ERG rod-normal/cone-normal" "" "29y" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000174273" "04215" "00233851" "00020" "Familial, autosomal recessive" "21y" "visual acuity now R-20/200 L-20/300; central scotoma (HP:0000603); medium central vision defect" "" "15y" "" "" "" "" "" "" "STGD-1" "Stargardt disease" ""
"0000180485" "00420" "00240479" "03336" "Familial, autosomal recessive" "09y" "Macular degeneration(HP:0000608),Retinitis pigmentosa inversa(HP:0008035),\r\nBull\'s eye maculopathy(HP:0011504)" "06y" "09y" "6y" "" "" "" "" "" "Stargardt disease" "Stargardt disease" ""
"0000180487" "00420" "00240484" "03336" "Familial, autosomal recessive" "28y" "Macular degeneration(HP:0000608),Retinitis pigmentosa inversa(HP:0008035),\r\nBull\'s eye maculopathy(HP:0011504)" "25y" "28y" "Stargardt" "" "" "" "" "" "Stargardt" "Stargardt" ""
"0000180488" "00420" "00240486" "03336" "Familial, autosomal recessive" "20y" "Macular degeneration(HP:0000608),Retinitis pigmentosa inversa(HP:0008035),\r\nBull\'s eye maculopathy(HP:0011504)" "19y" "20y" "Stargardt" "" "" "" "" "" "Stargardt" "Stargardt" ""
"0000180489" "00420" "00240487" "03336" "Familial, autosomal recessive" "25y" "Macular degeneration(HP:0000608),Retinitis pigmentosa inversa(HP:0008035),\r\nBull\'s eye maculopathy(HP:0011504)" "12y" "25y" "Stargardt" "" "" "" "" "" "Stargardt" "Stargardt" ""
"0000180490" "00420" "00240489" "03336" "Familial, autosomal recessive" "08y" "Macular degeneration(HP:0000608),Retinitis pigmentosa inversa(HP:0008035),\r\nBull\'s eye maculopathy(HP:0011504)" "06y" "08y" "Stargardt" "" "" "" "" "" "Stargardt" "Stargardt" ""
"0000180492" "00420" "00240492" "03336" "Familial, autosomal recessive" "11y" "Macular degeneration(HP:0000608),Retinitis pigmentosa inversa(HP:0008035),\r\nBull\'s eye maculopathy(HP:0011504)" "10y" "11y" "Stargardt" "" "" "" "" "" "Stargardt" "Stargardt" ""
"0000180494" "00420" "00240495" "03336" "Familial, autosomal recessive" "29y" "Macular degeneration(HP:0000608),Retinitis pigmentosa inversa(HP:0008035),\r\nBull\'s eye maculopathy(HP:0011504)" "02y" "29y" "Stargardt" "" "" "" "" "" "Stargardt" "Stargardt" ""
"0000180495" "00420" "00240496" "03336" "Familial, autosomal recessive" "24y" "Macular degeneration(HP:0000608),Retinitis pigmentosa inversa(HP:0008035),\r\nBull\'s eye maculopathy(HP:0011504)" "23y" "24y" "Stargardt" "" "" "" "" "" "Stargardt" "Stargardt" ""
"0000180496" "00420" "00240497" "03336" "Familial, autosomal recessive" "07y" "Macular degeneration(HP:0000608),Retinitis pigmentosa inversa(HP:0008035),\r\nBull\'s eye maculopathy(HP:0011504)" "06y" "07y" "Stargardt" "" "" "" "" "" "Stargardt" "Stargardt" ""
"0000180497" "00420" "00240499" "03336" "Familial, autosomal recessive" "50y" "Macular degeneration(HP:0000608),Retinitis pigmentosa inversa(HP:0008035),\r\nBull\'s eye maculopathy(HP:0011504)" "08y" "50y" "Stargardt" "" "" "" "" "" "Stargardt" "Stargardt" ""
"0000180498" "00420" "00240500" "03336" "Familial, autosomal recessive" "22y" "Macular degeneration(HP:0000608),Retinitis pigmentosa inversa(HP:0008035),\r\nBull\'s eye maculopathy(HP:0011504)" "14y" "22y" "Stargardt" "" "" "" "" "" "Stargardt" "Stargardt" ""
"0000180501" "00420" "00240501" "03336" "Familial, autosomal recessive" "38y" "Macular degeneration(HP:0000608), Bull\'s eye maculopathy(HP:0011504)" "20y" "38y" "Stargardt" "" "" "" "" "" "Stargardt" "Stargardt" ""
"0000180502" "00420" "00240503" "03336" "Familial, autosomal recessive" "14y" "Macular degeneration(HP:0000608), Bull\'s eye maculopathy(HP:0011504)" "13y" "14y" "Stargardt" "" "" "" "" "" "Stargardt" "Stargardt" ""
"0000180503" "00420" "00240505" "03336" "Familial, autosomal recessive" "33y" "Macular degeneration(HP:0000608), Bull\'s eye maculopathy(HP:0011504)" "13y" "33y" "Stargardt" "" "" "" "" "" "Stargardt" "Stargardt" ""
"0000180504" "00420" "00240506" "03336" "Familial, autosomal recessive" "59y" "Macular degeneration(HP:0000608), Bull\'s eye maculopathy(HP:0011504)" "35y" "59y" "Stargardt" "" "" "" "" "" "Stargardt" "Stargardt" ""
"0000180505" "00420" "00240507" "03336" "Familial, autosomal recessive" "09y" "Macular degeneration(HP:0000608), Bull\'s eye maculopathy(HP:0011504)" "07y" "" "Stargardt" "" "" "" "" "" "Stargardt" "Stargardt" ""
"0000181227" "00420" "00241229" "03336" "Familial, autosomal recessive" "34y" "Macular degeneration(HP:0000608), Bull\'s eye maculopathy(HP:0011504)" "15y" "" "Stargardt" "" "" "" "" "" "Stargardt" "Stargardt" ""
"0000181228" "00420" "00241230" "03336" "Familial, autosomal recessive" "31y" "Macular degeneration(HP:0000608), Bull\'s eye maculopathy(HP:0011504)" "30y" "" "Stargardt" "" "" "" "" "" "Stargardt" "Stargardt" ""
"0000181229" "00420" "00241231" "03336" "Familial, autosomal recessive" "35y" "Macular degeneration(HP:0000608), Bull\'s eye maculopathy(HP:0011504)" "20y" "" "Stargardt" "" "" "" "" "" "Stargardt" "Stargardt" ""
"0000181231" "00420" "00241233" "03336" "Familial, autosomal recessive" "12y" "Macular degeneration(HP:0000608), Bull\'s eye maculopathy(HP:0011504)" "11y" "" "Stargardt" "" "" "" "" "" "Stargardt" "Stargardt" ""
"0000181232" "00420" "00241234" "03336" "Familial, autosomal recessive" "15y" "" "08y" "" "Stargardt" "" "" "" "" "" "Stargardt" "Stargardt" ""
"0000181234" "00420" "00241237" "03336" "Familial, autosomal recessive" "13y" "Macular degeneration(HP:0000608), Bull\'s eye maculopathy(HP:0011504)" "10y" "" "Stargardt" "" "" "" "" "" "Stargardt" "Stargardt" ""
"0000181235" "00420" "00241238" "03336" "Familial, autosomal recessive" "08y" "Macular degeneration(HP:0000608), Bull\'s eye maculopathy(HP:0011504)" "06y" "" "Stargardt" "" "" "" "" "" "Stargardt" "Stargardt" ""
"0000181237" "00420" "00241243" "03336" "Familial, autosomal recessive" "06y" "Macular degeneration(HP:0000608), Bull\'s eye maculopathy(HP:0011504)" "04y" "" "Stargardt" "" "" "" "" "" "Stargardt" "Stargardt" ""
"0000181238" "00420" "00241247" "03336" "Familial, autosomal recessive" "09y" "" "06y" "" "Stargardt" "" "" "" "" "" "Stargardt" "Stargardt" ""
"0000181239" "00420" "00241250" "03336" "Familial, autosomal recessive" "17y" "Macular degeneration(HP:0000608), Bull\'s eye maculopathy(HP:0011504)" "10y" "" "" "" "" "" "" "" "Stargardt" "Stargardt" ""
"0000181959" "00420" "00241976" "03336" "Familial, autosomal recessive" "13y" "Macular degeneration(HP:0000608)" "11y" "" "Stargardt" "" "" "" "" "" "Stargardt" "Stargardt" ""
"0000183290" "00420" "00243307" "03336" "Familial, autosomal recessive" "26y" "Macular degeneration(HP:0000608)" "15y" "" "Stargardt disease" "" "" "" "" "" "Stargardt disease" "Stargardt disease" ""
"0000183291" "00420" "00243308" "03336" "Familial, autosomal recessive" "15y" "Macular degeneration(HP:0000608), Bull\'s eye maculopathy(HP:0011504)" "07y" "" "Stargardt disease" "" "" "" "" "" "Stargardt disease" "Stargardt disease" ""
"0000183292" "00420" "00243309" "03336" "Familial, autosomal recessive" "23y" "Macular degeneration(HP:0000608), Bull\'s eye maculopathy(HP:0011504)" "14y" "" "" "" "" "" "" "" "Stargardt disease" "Stargardt disease" ""
"0000183293" "00420" "00243310" "03336" "Familial, autosomal recessive" "12y" "Macular degeneration(HP:0000608)" "03y" "" "Stargardt disease" "" "" "" "" "" "Stargardt disease" "Stargardt disease" ""
"0000184345" "00420" "00244362" "03336" "Familial, autosomal recessive" "33y" "Macular degeneration(HP:0000608), Bull\'s eye maculopathy(HP:0011504)" "27y" "" "" "" "" "" "" "" "Stargardt disease" "Stargardt disease" ""
"0000184346" "00420" "00244364" "03336" "Familial, autosomal recessive" "36y" "Macular degeneration(HP:0000608), Bull\'s eye maculopathy(HP:0011504)" "05y" "" "" "" "" "" "" "" "Stargardt disease" "Stargardt disease" ""
"0000184347" "00420" "00244365" "03336" "Familial, autosomal recessive" "18y" "Macular degeneration(HP:0000608), Bull\'s eye maculopathy(HP:0011504)" "09y" "" "Stargardt disease" "" "" "" "" "" "Stargardt disease" "Stargardt disease" ""
"0000184348" "00420" "00244366" "03336" "Familial, autosomal recessive" "18y" "Macular degeneration(HP:0000608), Bull\'s eye maculopathy(HP:0011504)" "14y" "" "Stargardt disease" "" "" "" "" "" "Stargardt disease" "Stargardt disease" ""
"0000184349" "00420" "00244367" "03336" "Familial, autosomal recessive" "48y" "Macular degeneration(HP:0000608), Bull\'s eye maculopathy(HP:0011504)" "39y" "" "" "" "" "" "" "" "Stargardt disease" "Stargardt disease" ""
"0000184351" "00420" "00244370" "03336" "Familial, autosomal recessive" "23y" "Macular degeneration(HP:0000608), Bull\'s eye maculopathy(HP:0011504)" "20y" "" "Stargardt disease" "" "" "" "" "" "Stargardt disease" "Stargardt disease" ""
"0000184352" "00420" "00244371" "03336" "Familial, autosomal recessive" "61y" "Macular degeneration(HP:0000608), Bull\'s eye maculopathy(HP:0011504)" "55y" "" "Stargardt disease" "" "" "" "" "" "Stargardt disease" "Stargardt disease" ""
"0000184353" "00420" "00244372" "03336" "Familial, autosomal recessive" "31y" "Macular degeneration(HP:0000608), Bull\'s eye maculopathy(HP:0011504)" "26y" "" "" "" "" "" "" "" "Stargardt disease" "Stargardt disease" ""
"0000184355" "00420" "00244374" "03336" "Familial, autosomal recessive" "31y" "Macular degeneration(HP:0000608), Bull\'s eye maculopathy(HP:0011504)" "08y" "" "Stargardt disease" "" "" "" "" "" "Stargardt disease" "Stargardt disease" ""
"0000184356" "00420" "00244375" "03336" "Familial, autosomal recessive" "15y" "Macular degeneration(HP:0000608), Bull\'s eye maculopathy(HP:0011504)" "10y" "" "" "" "" "" "" "" "Stargardt disease" "Stargardt disease" ""
"0000184357" "00420" "00244376" "03336" "Familial, autosomal recessive" "13y" "Macular degeneration(HP:0000608), Bull\'s eye maculopathy(HP:0011504)" "08y" "" "Stargardt disease" "" "" "" "" "" "Stargardt disease" "Stargardt disease" ""
"0000184358" "00420" "00244377" "03336" "Familial, autosomal recessive" "15y" "Macular degeneration(HP:0000608), Bull\'s eye maculopathy(HP:0011504)" "08y" "" "" "" "" "" "" "" "Stargardt disease" "Stargardt disease" ""
"0000184359" "00420" "00244378" "03336" "Familial, autosomal recessive" "45y" "Macular degeneration(HP:0000608), Bull\'s eye maculopathy(HP:0011504)" "25y" "" "Stargardt disease" "" "" "" "" "" "Stargardt disease" "Stargardt disease" ""
"0000184360" "00420" "00244379" "03336" "Familial, autosomal recessive" "35y" "Macular degeneration(HP:0000608), Bull\'s eye maculopathy(HP:0011504)" "30y" "" "Stargardt disease" "" "" "" "" "" "Stargardt disease" "Stargardt disease" ""
"0000184361" "00420" "00244380" "03336" "Familial, autosomal recessive" "23y" "Macular degeneration(HP:0000608), Bull\'s eye maculopathy(HP:0011504)" "11y" "" "Stargardt disease" "" "" "" "" "" "Stargardt disease" "Stargardt disease" ""
"0000184362" "00420" "00244381" "03336" "Familial, autosomal recessive" "08y" "Macular degeneration(HP:0000608), Bull\'s eye maculopathy(HP:0011504)" "06y" "" "Stargardt disease" "" "" "" "" "" "Stargardt disease" "Stargardt disease" ""
"0000184363" "00420" "00244382" "03336" "Familial, autosomal recessive" "43y" "Macular degeneration(HP:0000608), Bull\'s eye maculopathy(HP:0011504)" "30y" "" "Stargardt disease" "" "" "" "" "" "Stargardt disease" "Stargardt disease" ""
"0000184364" "00420" "00244384" "03336" "Familial, autosomal recessive" "08y" "Macular degeneration(HP:0000608), Bull\'s eye maculopathy(HP:0011504)" "06y" "" "Stargardt disease" "" "" "" "" "" "Stargardt disease" "Stargardt disease" ""
"0000184365" "00420" "00244385" "03336" "Familial, autosomal recessive" "07y" "Macular degeneration(HP:0000608), Bull\'s eye maculopathy(HP:0011504)" "05y" "" "Stargardt disease" "" "" "" "" "" "Stargardt disease" "Stargardt disease" ""
"0000184366" "00420" "00244386" "03336" "Familial, autosomal recessive" "22y" "Macular degeneration(HP:0000608), Bull\'s eye maculopathy(HP:0011504)" "20y" "" "" "" "" "" "" "" "Stargardt disease" "Stargardt disease" ""
"0000184367" "00420" "00244387" "03336" "Familial, autosomal recessive" "25y" "Macular degeneration(HP:0000608), Bull\'s eye maculopathy(HP:0011504)" "13y" "" "" "" "" "" "" "" "Stargardt disease" "Stargardt disease" ""
"0000184368" "00420" "00244388" "03336" "Familial, autosomal recessive" "25y" "Macular degeneration(HP:0000608), Bull\'s eye maculopathy(HP:0011504)" "10y" "" "" "" "" "" "" "" "Stargardt disease" "Stargardt disease" ""
"0000184369" "00420" "00244389" "03336" "Familial, autosomal recessive" "21y" "Macular degeneration(HP:0000608), Bull\'s eye maculopathy(HP:0011504)" "18y" "" "Stargardt disease" "" "" "" "" "" "Stargardt disease" "Stargardt disease" ""
"0000184370" "00420" "00244390" "03336" "Familial, autosomal recessive" "19y" "Macular degeneration(HP:0000608), Bull\'s eye maculopathy(HP:0011504)" "10y" "" "Stargardt disease" "" "" "" "" "" "Stargardt disease" "Stargardt disease" ""
"0000184371" "00420" "00244391" "03336" "Familial, autosomal recessive" "14y" "Macular degeneration(HP:0000608), Bull\'s eye maculopathy(HP:0011504)" "10y" "" "Stargardt disease" "" "" "" "" "" "Stargardt disease" "Stargardt disease" ""
"0000184372" "00420" "00244392" "03336" "Familial, autosomal recessive" "10y" "Macular degeneration(HP:0000608), Bull\'s eye maculopathy(HP:0011504)" "09y" "" "Stargardt disease" "" "" "" "" "" "Stargardt disease" "Stargardt disease" ""
"0000184374" "00420" "00244393" "03336" "Familial, autosomal recessive" "41y" "Macular degeneration(HP:0000608), Bull\'s eye maculopathy(HP:0011504)" "33y" "" "" "" "" "" "" "" "Stargardt disease" "Stargardt disease" ""
"0000184375" "00420" "00244394" "03336" "Familial, autosomal recessive" "26y" "" "20y" "" "" "" "" "" "" "" "Stargardt disease" "Stargardt disease" ""
"0000184376" "00420" "00244395" "03336" "Familial, autosomal recessive" "33y" "Macular degeneration(HP:0000608), Bull\'s eye maculopathy(HP:0011504)" "23y" "" "" "" "" "" "" "" "Stargardt disease" "Stargardt disease" ""
"0000184377" "00420" "00244396" "03336" "Familial, autosomal recessive" "40y" "Macular degeneration(HP:0000608), Bull\'s eye maculopathy(HP:0011504)" "20y" "" "" "" "" "" "" "" "Stargardt disease" "Stargardt disease" ""
"0000184378" "00420" "00244397" "03336" "Familial, autosomal recessive" "37y" "Macular degeneration(HP:0000608), Bull\'s eye maculopathy(HP:0011504)" "15y" "" "" "" "" "" "" "" "Stargardt disease" "Stargardt disease" ""
"0000184379" "00420" "00244398" "03336" "Familial, autosomal recessive" "37y" "Macular degeneration(HP:0000608), Bull\'s eye maculopathy(HP:0011504)" "25y" "" "" "" "" "" "" "" "Stargardt disease" "Stargardt disease" ""
"0000184380" "00420" "00244399" "03336" "Familial, autosomal recessive" "47y" "" "35y" "" "" "" "" "" "" "" "Stargardt disease" "Stargardt disease" ""
"0000184381" "00420" "00244400" "03336" "Familial, autosomal recessive" "42y" "Macular degeneration(HP:0000608), Bull\'s eye maculopathy(HP:0011504)" "41y" "" "" "" "" "" "" "" "Stargardt disease" "Stargardt disease" ""
"0000184382" "00420" "00244401" "03336" "Familial, autosomal recessive" "53y" "Macular degeneration(HP:0000608), Bull\'s eye maculopathy(HP:0011504)" "35y" "" "" "" "" "" "" "" "" "" ""
"0000184383" "00420" "00244402" "03336" "Familial, autosomal recessive" "37y" "Macular degeneration(HP:0000608), Bull\'s eye maculopathy(HP:0011504)" "30y" "" "" "" "" "" "" "" "Stargardt disease" "Stargardt disease" ""
"0000184384" "00420" "00244403" "03336" "Familial, autosomal recessive" "30y" "Macular degeneration(HP:0000608), Bull\'s eye maculopathy(HP:0011504)" "07y" "" "" "" "" "" "" "" "Stargardt disease" "Stargardt disease" ""
"0000184385" "00420" "00244404" "03336" "Familial, autosomal recessive" "41y" "" "35y" "" "" "" "" "" "" "" "Stargardt disease" "Stargardt disease" ""
"0000184386" "00420" "00244405" "03336" "Familial, autosomal recessive" "22y" "Macular degeneration(HP:0000608), Bull\'s eye maculopathy(HP:0011504)" "15y" "" "" "" "" "" "" "" "Stargardt disease" "Stargardt disease" ""
"0000184387" "00420" "00244406" "03336" "Familial, autosomal recessive" "57y" "" "49y" "" "" "" "" "" "" "" "Stargardt disease" "Stargardt disease" ""
"0000184388" "00420" "00244407" "03336" "Familial, autosomal recessive" "55y" "Macular degeneration(HP:0000608), Bull\'s eye maculopathy(HP:0011504)" "05y" "" "" "" "" "" "" "" "Stargardt disease" "Stargardt disease" ""
"0000184389" "00420" "00244408" "03336" "Familial, autosomal recessive" "30y" "Macular degeneration(HP:0000608), Bull\'s eye maculopathy(HP:0011504)" "20y" "" "" "" "" "" "" "" "Stargardt disease" "Stargardt disease" ""
"0000184390" "00420" "00244409" "03336" "Familial, autosomal recessive" "34y" "Macular degeneration(HP:0000608), Bull\'s eye maculopathy(HP:0011504)" "29y" "" "" "" "" "" "" "" "Stargardt disease" "Stargardt disease" ""
"0000184391" "00420" "00244410" "03336" "Familial, autosomal recessive" "68y" "" "65y" "" "" "" "" "" "" "" "Stargardt disease" "Stargardt disease" ""
"0000184392" "00420" "00244411" "03336" "Familial, autosomal recessive" "68y" "Macular degeneration(HP:0000608), Bull\'s eye maculopathy(HP:0011504)" "65y" "" "" "" "" "" "" "" "Stargardt disease" "Stargardt disease" ""
"0000184393" "00420" "00244413" "03336" "Familial, autosomal recessive" "36y" "" "15y" "" "" "" "" "" "" "" "Stargardt disease" "Stargardt disease" ""
"0000184394" "00420" "00244414" "03336" "Familial, autosomal recessive" "43y" "Macular degeneration(HP:0000608)" "" "10y" "" "" "" "" "" "" "Stargardt disease" "Stargardt disease" ""
"0000184395" "00420" "00244415" "03336" "Familial, autosomal recessive" "15y" "Macular degeneration(HP:0000608), Bull\'s eye maculopathy(HP:0011504)" "09y" "" "" "" "" "" "" "" "Stargardt disease" "Stargardt disease" ""
"0000184396" "00420" "00244416" "03336" "Familial, autosomal recessive" "16y" "Macular degeneration(HP:0000608), Bull\'s eye maculopathy(HP:0011504)" "09y" "" "" "" "" "" "" "" "Stargardt disease" "Stargardt disease" ""
"0000184397" "00420" "00244417" "03336" "Familial, autosomal recessive" "53y" "Macular degeneration(HP:0000608), Bull\'s eye maculopathy(HP:0011504)" "42y" "" "" "" "" "" "" "" "Stargardt disease" "Stargardt disease" ""
"0000184398" "00420" "00244418" "03336" "Familial, autosomal recessive" "18y" "Macular degeneration(HP:0000608), Bull\'s eye maculopathy(HP:0011504)" "07y" "" "" "" "" "" "" "" "Stargardt disease" "Stargardt disease" ""
"0000206967" "00198" "00269122" "01807" "Unknown" "" "Cone/cone-rod dystrophy (HP:0000548)" "" "" "" "" "" "" "" "" "" "" ""
"0000210198" "00198" "00275578" "01164" "Unknown" "" "Macular degeneration (HP:0000608)" "" "" "" "" "" "" "" "" "" "" ""
"0000220834" "00198" "00287098" "01807" "Unknown" "" "Macular dystrophy (HP:0007754)" "" "" "" "" "" "" "" "" "" "" ""
"0000220836" "00198" "00287100" "01807" "Unknown" "" "Retinal degeneration (HP:0000546)" "" "" "" "" "" "" "" "" "" "" ""
"0000223498" "00198" "00296031" "00006" "Familial, autosomal recessive" "15y" "see paper; initial diagnosis keratosis follicularis spinulosa decalvans and retinitis pigmentosa inversa; 1y-absence growing hair, pale skin, sparse scalp hair, punctiform follicular keratosis on cheeks, forehead, eyebrows and anterior surface arms and posterior surface legs, erythema with follicular hyperkeratosis and reduction hair density eyebrows; skin biopsy reduction number scalp follicles, absence seborrheic glands, infundibular cyst with keratin granules; 2y-retinal alteration, ..." "01y" "" "" "" "" "" "" "" "HJMD" "keratosis follicularis spinulosa decalvans and retinitis pigmentosa inversa" ""
"0000226952" "04214" "00299642" "00006" "Familial, autosomal recessive" "38y" "see paper; ..., 30y-photopsia (HP:0030786), nyctalopia (HP:0000662), field defect; irregular pigmented lesions in periphery (HP:0007703), foveal/parafoveal cysts (HP:?); 30y-PERG borderline on R, subnormal on L, undetectable rod ERG, abnormal cone ERG, severe rod>cone dysfunction; 33y-colour vision Ishihara R 21/23 L 3/23; 36y-fields to confrontation less than 30 degrees; presenting VA logMAR (Snellen) R 0.18 (20/30), L 0.48 (20/60); latest VA logMAR R 0.18 (20/30), L 0.8 (20/125); latest refractive error, dioptres R +2.25/-1.00x5, L +2.00/-1.50x165" "30y" "" "" "" "" "" "" "" "RP78" "retinitis pigmentosa" ""
"0000231804" "00198" "00305956" "01164" "Unknown" "" "Tapetoretinal degeneration (HP:0000547); Abnormality of the retina (HP:0000479)" "" "" "" "" "" "" "" "" "" "" ""
"0000232453" "00420" "00306613" "01695" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000232454" "00420" "00306614" "01695" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000232455" "00420" "00306615" "01695" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000232456" "00420" "00306616" "01695" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000232457" "00420" "00306617" "01695" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000232458" "00420" "00306618" "01695" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000232459" "00420" "00306619" "01695" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000232460" "00420" "00306620" "01695" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000232461" "00420" "00306621" "01695" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000232462" "00420" "00306622" "01695" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000232463" "00420" "00306623" "01695" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000232464" "00420" "00306624" "01695" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000232465" "00420" "00306625" "01695" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000232466" "00420" "00306626" "01695" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000232467" "00420" "00306627" "01695" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000232468" "00420" "00306628" "01695" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000232469" "00420" "00306629" "01695" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000232470" "00420" "00306630" "01695" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000232471" "00420" "00306631" "01695" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000232472" "00420" "00306632" "01695" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000232473" "00420" "00306633" "01695" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000232474" "00420" "00306634" "01695" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000232475" "00420" "00306635" "01695" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000232476" "00420" "00306636" "01695" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000232477" "00420" "00306637" "01695" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000232478" "00420" "00306638" "01695" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000232479" "00420" "00306639" "01695" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000232480" "00420" "00306640" "01695" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000232481" "00420" "00306641" "01695" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000232482" "00420" "00306642" "01695" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000232483" "00420" "00306643" "01695" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000232484" "00420" "00306644" "01695" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000232485" "00420" "00306645" "01695" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000232486" "00420" "00306646" "01695" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000232487" "00420" "00306647" "01695" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000232488" "00420" "00306648" "01695" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000232489" "00420" "00306649" "01695" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000232490" "00420" "00306650" "01695" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000232491" "00420" "00306651" "01695" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000232492" "00420" "00306652" "01695" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000232493" "00420" "00306653" "01695" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000232494" "00420" "00306654" "01695" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000232495" "00420" "00306655" "01695" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000232496" "00420" "00306656" "01695" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000232497" "00420" "00306657" "01695" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000232498" "00420" "00306658" "01695" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000232499" "00420" "00306659" "01695" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000232500" "00420" "00306660" "01695" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000232501" "00420" "00306661" "01695" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000232502" "00420" "00306662" "01695" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000232555" "00420" "00244363" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000232556" "00420" "00306722" "03336" "Familial, autosomal recessive" "06y" "" "04y" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000232557" "00420" "00306723" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000232558" "00420" "00306724" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000232559" "00420" "00306725" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000232560" "00420" "00306726" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000233849" "04214" "00308421" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000233850" "04214" "00308422" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000233851" "04214" "00308423" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000233852" "04214" "00308424" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000233853" "04214" "00308425" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000233854" "04214" "00308426" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000233855" "04214" "00308427" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000233856" "04214" "00308428" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000233857" "04214" "00308429" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000233858" "04214" "00308430" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000233859" "04214" "00308431" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000233860" "04214" "00308432" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000233861" "04214" "00308433" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000233862" "04214" "00308434" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000233863" "04214" "00308435" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000233864" "04214" "00308436" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000233865" "04214" "00308437" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000233866" "04214" "00308438" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000233867" "04214" "00308439" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000233868" "04214" "00308440" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000233869" "04214" "00308441" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000233870" "04214" "00308442" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000233871" "04214" "00308443" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000233872" "04214" "00308444" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000233873" "04214" "00308445" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000233874" "04214" "00308446" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000233875" "04214" "00308447" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000233876" "04214" "00308448" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000233877" "04214" "00308449" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000233878" "04214" "00308450" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000233879" "04214" "00308451" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000233880" "04214" "00308452" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000233881" "04214" "00308453" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000233882" "04214" "00308454" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000233883" "04214" "00308455" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000233884" "04214" "00308456" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000233885" "04214" "00308457" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000233886" "04214" "00308458" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000233887" "04214" "00308459" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000233888" "04214" "00308460" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000233889" "04214" "00308461" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000233890" "04214" "00308462" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000233891" "04214" "00308463" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000233892" "04214" "00308464" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000233893" "04214" "00308465" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000233894" "04214" "00308466" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000233895" "04214" "00308467" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000233896" "04214" "00308468" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000234024" "04214" "00308596" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000234060" "04214" "00308632" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000234082" "04214" "00308654" "00004" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000234089" "04214" "00308661" "00004" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone dystrophy" ""
"0000234094" "04214" "00308666" "00004" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000234095" "04214" "00308667" "00004" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000234096" "04214" "00308668" "00004" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000234097" "04214" "00308669" "00004" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000234098" "04214" "00308670" "00004" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000234099" "04214" "00308671" "00004" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000234157" "04214" "00308837" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "maculopathy" ""
"0000234158" "04214" "00308838" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000234159" "04214" "00308839" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000234160" "04214" "00308840" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000234161" "04214" "00308841" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cone–rod dystrophy" ""
"0000234162" "04214" "00308842" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000234163" "04214" "00308843" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000234164" "04214" "00308844" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "maculopathy" ""
"0000234165" "04214" "00308845" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cone–rod dystrophy" ""
"0000234166" "04214" "00308846" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "maculopathy" ""
"0000234167" "04214" "00308847" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000234168" "04214" "00308848" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000234169" "04214" "00308849" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "maculopathy" ""
"0000234170" "04214" "00308850" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000234171" "04214" "00308851" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "maculopathy" ""
"0000234172" "04214" "00308852" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000234173" "04214" "00308853" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cone–rod dystrophy" ""
"0000234174" "04214" "00308854" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000234175" "04214" "00308855" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000234176" "04214" "00308856" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000234177" "04214" "00308857" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000234178" "04214" "00308858" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "maculopathy" ""
"0000234179" "04214" "00308859" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000234180" "04214" "00308860" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cone–rod dystrophy" ""
"0000234181" "04214" "00308861" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "maculopathy" ""
"0000234182" "04214" "00308862" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000234183" "04214" "00308863" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000234184" "04214" "00308864" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000234185" "04214" "00308865" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cone–rod dystrophy" ""
"0000234186" "04214" "00308866" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000234187" "04214" "00308867" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000234188" "04214" "00308868" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "maculopathy" ""
"0000234189" "04214" "00308869" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000234190" "04214" "00308870" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000234191" "04214" "00308871" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000234192" "04214" "00308872" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cone–rod dystrophy" ""
"0000234193" "04214" "00308873" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000234194" "04214" "00308874" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "maculopathy" ""
"0000234195" "04214" "00308875" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000234196" "04214" "00308876" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "maculopathy" ""
"0000234197" "04214" "00308877" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000234198" "04214" "00308878" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000234199" "04214" "00308879" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cone–rod dystrophy" ""
"0000234200" "04214" "00308880" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000234201" "04214" "00308881" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "maculopathy" ""
"0000234202" "04214" "00308882" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000234203" "04214" "00308883" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cone–rod dystrophy" ""
"0000234204" "04214" "00308884" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000234205" "04214" "00308885" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000234206" "04214" "00308886" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cone–rod dystrophy" ""
"0000234207" "04214" "00308887" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "maculopathy" ""
"0000234208" "04214" "00308888" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000234209" "04214" "00308889" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cone–rod dystrophy" ""
"0000234210" "04214" "00308890" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cone–rod dystrophy" ""
"0000234211" "04214" "00308891" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000234212" "04214" "00308892" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cone–rod dystrophy" ""
"0000234213" "04214" "00308893" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "maculopathy" ""
"0000234214" "04214" "00308894" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000234215" "04214" "00308895" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000234216" "04214" "00308896" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000234217" "04214" "00308897" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cone–rod dystrophy" ""
"0000234218" "04214" "00308898" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "maculopathy" ""
"0000234219" "04214" "00308899" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000234220" "04214" "00308900" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "maculopathy" ""
"0000234221" "04214" "00308901" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000234222" "04214" "00308902" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000234223" "04214" "00308903" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "maculopathy" ""
"0000234224" "04214" "00308904" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000234225" "04214" "00308905" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000234226" "04214" "00308906" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000234227" "04214" "00308907" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000234228" "04214" "00308908" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000234229" "04214" "00308909" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000234230" "04214" "00308910" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "maculopathy" ""
"0000234231" "04214" "00308911" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cone–rod dystrophy" ""
"0000234232" "04214" "00308912" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000234233" "04214" "00308913" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000234234" "04214" "00308914" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000234235" "04214" "00308915" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000234236" "04214" "00308916" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cone–rod dystrophy" ""
"0000234237" "04214" "00308917" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000234238" "04214" "00308918" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000234239" "04214" "00308919" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000234240" "04214" "00308920" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000234241" "04214" "00308921" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000235001" "04214" "00309682" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000235353" "00420" "00310040" "03336" "Familial, autosomal recessive" "19y" "Macular degeneration(HP:0000608),\r\nBull\'s eye maculopathy(HP:0011504)" "10y" "19y" "Stargardt" "" "" "" "" "" "Stargardt" "Stargardt" ""
"0000235355" "00420" "00310043" "03336" "Familial, autosomal recessive" "31y" "Macular degeneration(HP:0000608),Retinitis pigmentosa inversa(HP:0008035),\r\nBull\'s eye maculopathy(HP:0011504)" "10y" "31y" "Stargardt" "" "" "" "" "" "Stargardt" "Stargardt" ""
"0000235356" "00420" "00310044" "03336" "Familial, autosomal recessive" "08y" "Macular degeneration(HP:0000608),\r\nBull\'s eye maculopathy(HP:0011504)" "02y" "08y" "Stargardt" "" "" "" "" "" "Stargardt" "Stargardt" ""
"0000235357" "00420" "00310046" "03336" "Familial, autosomal recessive" "22y" "Macular degeneration(HP:0000608),Retinitis pigmentosa inversa(HP:0008035),\r\nBull\'s eye maculopathy(HP:0011504)" "15y" "22y" "Stargardt" "" "" "" "" "" "Stargardt" "Stargardt" ""
"0000235358" "00420" "00310048" "03336" "Familial, autosomal recessive" "39y" "Macular degeneration(HP:0000608),\r\nBull\'s eye maculopathy(HP:0011504)" "34y" "39y" "Stargardt" "" "" "" "" "" "Stargardt" "Stargardt" ""
"0000235360" "00420" "00310049" "03336" "Familial, autosomal recessive" "28y" "Macular degeneration(HP:0000608),\r\nBull\'s eye maculopathy(HP:0011504)" "23y" "28y" "Stargardt" "" "" "" "" "" "Stargardt" "Stargardt" ""
"0000235361" "00420" "00310050" "03336" "Familial, autosomal recessive" "28y" "Macular degeneration(HP:0000608),\r\nBull\'s eye maculopathy(HP:0011504)" "03y" "28y" "Stargardt" "" "" "" "" "" "Stargardt" "Stargardt" ""
"0000235362" "00420" "00310051" "03336" "Familial, autosomal recessive" "22y" "Macular degeneration(HP:0000608)" "07y" "22y" "Stargardt" "" "" "" "" "" "Stargardt" "Stargardt" ""
"0000235363" "00420" "00310053" "03336" "Familial, autosomal recessive" "10y" "Macular degeneration(HP:0000608)" "08y" "10y" "Stargardt" "" "" "" "" "" "Stargardt" "Stargardt" ""
"0000235364" "00420" "00310054" "03336" "Familial, autosomal recessive" "20y" "Macular degeneration(HP:0000608)" "10y" "20y" "Stargardt" "" "" "" "" "" "Stargardt" "Stargardt" ""
"0000235365" "00420" "00310055" "03336" "Familial, autosomal recessive" "13y" "Macular degeneration(HP:0000608)" "11y" "13y" "Stargardt" "" "" "" "" "" "Stargardt" "Stargardt" ""
"0000235366" "00420" "00310056" "03336" "Familial, autosomal recessive" "16y" "Macular degeneration(HP:0000608)" "14y" "16y" "Stargardt" "" "" "" "" "" "Stargardt" "Stargardt" ""
"0000236303" "00198" "00311039" "01164" "Unknown" "" "Abnormality of the eye (HP:0000478)" "" "" "" "" "" "" "" "" "" "" ""
"0000241927" "04214" "00319823" "00008" "Unknown" "" "Age: 27y" "" "" "" "" "" "" "" "" "" "Early SMD" ""
"0000241928" "04214" "00319824" "00008" "Unknown" "" "Age: 31y" "" "" "" "" "" "" "" "" "" "Advanced SMD" ""
"0000242113" "00420" "00320005" "03846" "Familial, autosomal recessive" "20y" "" "12y" "" "" "" "" "" "" "" "" "" ""
"0000242114" "04215" "00320069" "03846" "Familial, autosomal recessive" "15y" "" "09y" "" "" "" "" "" "" "" "STGD" "STGD" ""
"0000242115" "04215" "00320070" "03846" "Familial, autosomal recessive" "41y" "" "" "" "" "" "" "" "" "" "STGD" "STGD" ""
"0000242116" "00058" "00320071" "03846" "Familial, autosomal recessive" "06y" "" "05y" "" "" "" "" "" "" "" "" "CORD" ""
"0000242117" "00058" "00320072" "03846" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "CORD" ""
"0000242118" "00058" "00320073" "03846" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CORD" "CORD" ""
"0000242223" "00198" "00320177" "01807" "Unknown" "" "Cone/cone-rod dystrophy (HP:0000548)" "" "" "" "" "" "" "" "" "" "" ""
"0000242245" "04215" "00320199" "03846" "Familial, autosomal recessive" "09y" "" "06y" "" "" "" "" "" "" "" "CORD" "CORD" ""
"0000242246" "00058" "00320200" "03846" "Familial, autosomal recessive" "08y" "" "06y" "" "" "" "" "" "" "" "CORD" "CORD" ""
"0000242247" "00058" "00320201" "03846" "Familial, autosomal recessive" "07y" "" "07y" "" "" "" "" "" "" "" "CORD" "CORD" ""
"0000242248" "04215" "00320202" "03846" "Familial, autosomal recessive" "13y" "" "07y" "" "" "" "" "" "" "" "STGD" "STGD" ""
"0000242249" "04215" "00320203" "03846" "Familial, autosomal recessive" "11y" "" "09y" "" "" "" "" "" "" "" "CORD" "CORD" ""
"0000242250" "00058" "00320204" "03846" "Familial, autosomal recessive" "10y" "" "08y" "" "" "" "" "" "" "" "CORD" "CORD" ""
"0000242251" "04215" "00320205" "03846" "Familial, autosomal recessive" "10y" "" "09y" "" "" "" "" "" "" "" "STGD" "STGD" ""
"0000242252" "00058" "00320206" "03846" "Familial, autosomal recessive" "07y" "" "04y" "" "" "" "" "" "" "" "CORD" "CORD" ""
"0000242253" "04215" "00320207" "03846" "Familial, autosomal recessive" "33y" "" "10y" "" "" "" "" "" "" "" "STGD" "STGD" ""
"0000242254" "00058" "00320208" "03846" "Familial, autosomal recessive" "07y" "" "06y" "" "" "" "" "" "" "" "CORD" "CORD" ""
"0000242285" "04215" "00320234" "03846" "Familial, autosomal recessive" "34y" "" "13y" "" "" "" "" "" "" "" "STGD" "STGD" ""
"0000242286" "04215" "00320235" "03846" "Familial, autosomal recessive" "11y" "" "07y" "" "" "" "" "" "" "" "STGD" "STGD" ""
"0000242287" "04215" "00320236" "03846" "Familial, autosomal recessive" "47y" "" "07y" "" "" "" "" "" "" "" "STGD" "STGD" ""
"0000242288" "04215" "00320237" "03846" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD" "STGD" ""
"0000242289" "04215" "00320238" "03846" "Familial, autosomal recessive" "17y" "" "07y" "" "" "" "" "" "" "" "STGD" "STGD" ""
"0000242290" "04215" "00320239" "03846" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD" "STGD" ""
"0000242291" "04215" "00320240" "03846" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD" "STGD" ""
"0000242292" "04215" "00320241" "03846" "Familial, autosomal recessive" "30y" "" "12y" "" "" "" "" "" "" "" "STGD" "STGD" ""
"0000242293" "04215" "00320242" "03846" "Familial, autosomal recessive" "27y" "" "23y" "" "" "" "" "" "" "" "STGD" "STGD" ""
"0000242295" "04215" "00320246" "03846" "Familial, autosomal recessive" "11y" "" "08y" "" "" "" "" "" "" "" "STGD" "STGD" ""
"0000242296" "04215" "00320247" "03846" "Familial, autosomal recessive" "15y" "" "09y" "" "" "" "" "" "" "" "STGD" "STGD" ""
"0000242297" "04215" "00320249" "03846" "Familial, autosomal recessive" "57y" "" "47y" "" "" "" "" "" "" "" "STGD" "STGD" ""
"0000242339" "04215" "00320325" "03846" "Familial, autosomal recessive" "66y" "" "07y" "" "" "" "" "" "" "" "STGD" "STGD" ""
"0000242340" "04215" "00320326" "03846" "Familial, autosomal recessive" "67y" "" "" "" "" "" "" "" "" "" "STGD" "STGD" ""
"0000242341" "04215" "00320327" "03846" "Familial, autosomal recessive" "40y" "" "09y" "" "" "" "" "" "" "" "STGD" "STGD" ""
"0000242342" "02387" "00320328" "03846" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "RP" "RP" ""
"0000242343" "02387" "00320329" "03846" "Familial, autosomal recessive" "20y" "" "" "" "" "" "" "" "" "" "RP" "RP" ""
"0000242344" "02387" "00320330" "03846" "Familial, autosomal recessive" "47y" "" "09y" "" "" "" "" "" "" "" "RP" "RP" ""
"0000242365" "04215" "00320352" "03846" "Familial, autosomal recessive" "39y" "" "12y" "" "" "" "" "" "" "" "STGD" "STGD" ""
"0000242366" "04215" "00320353" "03846" "Familial, autosomal recessive" "52y" "" "10y" "" "" "" "" "" "" "" "STGD" "STGD" ""
"0000242367" "04215" "00320354" "03846" "Familial, autosomal recessive" "45y" "" "25y" "" "" "" "" "" "" "" "STGD" "STGD" ""
"0000242368" "04215" "00320355" "03846" "Familial, autosomal recessive" "61y" "" "10y" "" "" "" "" "" "" "" "STGD" "STGD" ""
"0000242369" "04215" "00320356" "03846" "Familial, autosomal recessive" "50y" "" "13y" "" "" "" "" "" "" "" "STGD" "STGD" ""
"0000242414" "04215" "00320438" "03846" "Familial, autosomal recessive" "15y" "" "09y" "" "" "" "" "" "" "" "STGD" "STGD" ""
"0000242415" "04215" "00320439" "03846" "Familial, autosomal recessive" "21y" "" "11y" "" "" "" "" "" "" "" "STGD" "STGD" ""
"0000242416" "04215" "00320440" "03846" "Familial, autosomal recessive" "26y" "" "15y" "" "" "" "" "" "" "" "STGD" "STGD" ""
"0000242418" "04215" "00320442" "03846" "Familial, autosomal recessive" "35y" "" "29y" "" "" "" "" "" "" "" "STGD" "STGD" ""
"0000242425" "04215" "00320448" "03846" "Familial, autosomal recessive" "23y" "" "17y" "" "" "" "" "" "" "" "STGD" "STGD" ""
"0000242428" "04215" "00320451" "03846" "Familial, autosomal recessive" "20y" "" "10y" "" "" "" "" "" "" "" "STGD" "STGD" ""
"0000242430" "04215" "00320453" "03846" "Familial, autosomal recessive" "44y" "" "20y" "" "" "" "" "" "" "" "STGD" "STGD" ""
"0000242431" "04215" "00320454" "03846" "Familial, autosomal recessive" "39y" "" "" "" "" "" "" "" "" "" "STGD" "STGD" ""
"0000242433" "04215" "00320456" "03846" "Familial, autosomal recessive" "12y" "" "11y" "" "" "" "" "" "" "" "STGD" "STGD" ""
"0000242434" "04215" "00320457" "03846" "Familial, autosomal recessive" "33y" "" "09y" "" "" "" "" "" "" "" "STGD" "STGD" ""
"0000242436" "04215" "00320459" "03846" "Familial, autosomal recessive" "14y" "" "07y" "" "" "" "" "" "" "" "STGD" "STGD" ""
"0000242437" "04215" "00320460" "03846" "Familial, autosomal recessive" "41y" "" "26y" "" "" "" "" "" "" "" "STGD" "STGD" ""
"0000242612" "04215" "00322823" "03846" "Familial, autosomal recessive" "12y" "" "07y" "" "" "" "" "" "" "" "STGD" "STGD" ""
"0000242729" "04215" "00324146" "03846" "Familial, autosomal recessive" "35y" "" "11y" "" "" "" "" "" "" "" "STGD" "STGD" ""
"0000242730" "04215" "00324147" "03846" "Familial, autosomal recessive" "21y" "" "08y" "" "" "" "" "" "" "" "STGD" "STGD" ""
"0000242731" "04215" "00324148" "03846" "Familial, autosomal recessive" "46y" "" "07y" "" "" "" "" "" "" "" "STGD" "STGD" ""
"0000242732" "04215" "00324149" "03846" "Familial, autosomal recessive" "19y" "" "10y" "" "" "" "" "" "" "" "STGD" "STGD" ""
"0000242733" "00058" "00324150" "03846" "Familial, autosomal recessive" "08y" "" "" "06y" "" "" "" "" "" "" "" "CORD" ""
"0000242734" "04215" "00324152" "03846" "Familial, autosomal recessive" "21y" "" "11y" "" "" "" "" "" "" "" "STGD" "STGD" ""
"0000242735" "04215" "00324153" "03846" "Familial, autosomal recessive" "23y" "" "10y" "" "" "" "" "" "" "" "STGD" "STGD" ""
"0000242736" "04215" "00324154" "03846" "Familial, autosomal recessive" "29y" "" "08y" "" "" "" "" "" "" "" "STGD" "STGD" ""
"0000242737" "04215" "00324155" "03846" "Familial, autosomal recessive" "18y" "" "11y" "" "" "" "" "" "" "" "STGD" "STGD" ""
"0000243062" "02387" "00324518" "03957" "Familial, autosomal recessive" "34y" "" "27y" "34y" "" "" "" "" "" "" "RP19" "RP" ""
"0000243063" "00421" "00324520" "03957" "Familial, autosomal recessive" "38y" "" "13y" "38y" "" "" "" "" "" "" "CORD3" "CORD" ""
"0000243087" "00421" "00324560" "03957" "Familial, autosomal recessive" "33y" "" "20y" "33y" "" "" "" "" "" "" "CORD3" "CORD" ""
"0000243088" "00421" "00324561" "03957" "Familial, autosomal recessive" "07y" "" "05y" "07y" "" "" "" "" "" "" "CORD3" "CORD" ""
"0000243089" "00421" "00324562" "03957" "Familial, autosomal recessive" "27y" "" "17y" "27y" "" "" "" "" "" "" "CORD3" "CORD" ""
"0000243090" "00421" "00324579" "03957" "Familial, autosomal recessive" "18y" "" "12y" "18y" "" "" "" "" "" "" "CORD3" "CORD" ""
"0000243091" "00421" "00324580" "03957" "Familial, autosomal recessive" "10y" "" "09y" "10y" "" "" "" "" "" "" "CORD3" "CORD" ""
"0000243093" "00421" "00324582" "03957" "Familial, autosomal recessive" "20y" "" "10y" "20y" "" "" "" "" "" "" "CORD3" "CORD" ""
"0000243094" "04213" "00324584" "03957" "Familial, autosomal recessive" "17y" "" "13y" "17y" "" "" "" "" "" "" "COD" "COD" ""
"0000243095" "00420" "00324585" "03957" "Familial, autosomal recessive" "17y" "" "12y" "17y" "" "" "" "" "" "" "STGD1" "STGD" ""
"0000243096" "00420" "00324586" "03957" "Familial, autosomal recessive" "12y" "" "12y" "12y" "" "" "" "" "" "" "STGD1" "STGD" ""
"0000243097" "00420" "00324587" "03957" "Familial, autosomal recessive" "12y" "" "11y" "12y" "" "" "" "" "" "" "STGD1" "STGD" ""
"0000243098" "00420" "00324588" "03957" "Familial, autosomal recessive" "16y" "" "06y" "16y" "" "" "" "" "" "" "STGD1" "STGD" ""
"0000243099" "00420" "00324590" "03957" "Familial, autosomal recessive" "22y" "" "12y" "22y" "" "" "" "" "" "" "STGD1" "STGD" ""
"0000243100" "00420" "00324591" "03957" "Familial, autosomal recessive" "21y" "" "17y" "21y" "" "" "" "" "" "" "STGD1" "STGD" ""
"0000243908" "04214" "00325421" "00006" "Familial, autosomal recessive" "" "cone-rod dystrophy" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000243944" "04214" "00325457" "00006" "Familial, autosomal recessive" "" "macular dystrophy" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000243957" "04214" "00325470" "00006" "Familial, autosomal recessive" "" "macular dystrophy" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000243962" "04214" "00325475" "00006" "Familial, autosomal recessive" "" "macular dystrophy" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000243966" "04214" "00325479" "00006" "Familial, autosomal recessive" "" "macular dystrophy" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000243972" "04214" "00325485" "00006" "Familial, autosomal recessive" "" "retinitis pigmentosa" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000243976" "04214" "00325489" "00006" "Familial, autosomal recessive" "" "cone-rod dystrophy" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000243982" "04214" "00325495" "00006" "Familial, autosomal recessive" "" "retinitis pigmentosa" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000245161" "04214" "00326695" "00008" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "autosomal recessive retinitis pigmentosa (arRP)" ""
"0000245163" "04214" "00326697" "00008" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "autosomal recessive retinitis pigmentosa (arRP)" ""
"0000245165" "04214" "00326699" "00008" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "autosomal recessive retinitis pigmentosa (arRP)" ""
"0000245166" "04214" "00326700" "00008" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "autosomal recessive retinitis pigmentosa (arRP)" ""
"0000245167" "04214" "00326701" "00008" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "autosomal recessive retinitis pigmentosa (arRP)" ""
"0000245688" "04215" "00327394" "03980" "Familial, autosomal recessive" "15y" "proband of family M53 initially diagnosed with a cone-dystrophy. At age 12y-BCVA 20/400 vision both eyes with reduced colour vision, hyper-reflective flecks macula; field ERG revealed reduced photopic b-wave (87 microV,OD; 77 OS, N=95-130); photopic flicker response within normal limits, scotopic series normal; amplitude response mfERG reduced across all five rings, loss of central retinal function; 19y-maculopathy more apparent, features of degeneration seen with fundus autofluorescence imaging and macular thinning observed by OCT; OCT across macula in II-1 from the family showed atrophy of the ellipsoid zone in the central macula; OCT atrophy of the ellipsoid zone in the central macular, decreased central retinal thickness; normal full field ERG, central loss in multi-focal fERG" "" "15y" "" "" "" "" "" "" "Stargardt Macular Dystrophy" "cone-rod dystrophy" ""
"0000246139" "04214" "00327912" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" ""
"0000246141" "04214" "00327914" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000246145" "04214" "00327918" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "macular dystrophy" ""
"0000246178" "04214" "00327951" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000246187" "04214" "00327960" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000246199" "04214" "00327972" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000246238" "04214" "00328011" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000246249" "04214" "00328022" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness" ""
"0000246256" "04214" "00328029" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000246262" "04214" "00328035" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000246266" "04214" "00328039" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy" ""
"0000246274" "04214" "00328047" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy" ""
"0000246276" "04214" "00328049" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000246281" "04214" "00328054" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000246291" "04214" "00328064" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000246292" "04214" "00328065" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000246298" "04214" "00328071" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000246306" "04214" "00328079" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "macular dystrophy" ""
"0000246329" "04214" "00328102" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000246335" "04214" "00328108" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone dystrophy" ""
"0000246340" "04214" "00328113" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000246349" "04214" "00328122" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000246354" "04214" "00328127" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000246361" "04214" "00328134" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000246374" "04214" "00328147" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "macular dystrophy" ""
"0000246378" "04214" "00328151" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy" ""
"0000246406" "04214" "00328179" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000246407" "04214" "00328180" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000246408" "04214" "00328181" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy" ""
"0000246410" "04214" "00328183" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy" ""
"0000246411" "04214" "00328184" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000246412" "04214" "00328185" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000246419" "04214" "00328192" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy" ""
"0000246420" "04214" "00328193" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy" ""
"0000246426" "04214" "00328199" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000246427" "04214" "00328200" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000246430" "04214" "00328203" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000246431" "04214" "00328204" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000246432" "04214" "00328205" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000246434" "04214" "00328207" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000246439" "04214" "00328212" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000246440" "04214" "00328213" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000246441" "04214" "00328214" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000246442" "04214" "00328215" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000246448" "04214" "00328221" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy" ""
"0000246449" "04214" "00328222" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "macular dystrophy" ""
"0000246450" "04214" "00328223" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000246451" "04214" "00328224" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000246452" "04214" "00328225" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000246453" "04214" "00328226" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000246454" "04214" "00328227" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000246455" "04214" "00328228" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "macular dystrophy" ""
"0000246457" "04214" "00328230" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000246458" "04214" "00328231" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000246462" "04214" "00328235" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000246465" "04214" "00328238" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000246466" "04214" "00328239" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000246469" "04214" "00328242" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000246470" "04214" "00328243" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000246482" "04214" "00328255" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy" ""
"0000246484" "04214" "00328257" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000246486" "04214" "00328259" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy" ""
"0000246487" "04214" "00328260" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000246491" "04214" "00328264" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy" ""
"0000246495" "04214" "00328268" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000246496" "04214" "00328269" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000246504" "04214" "00328277" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "macular dystrophy" ""
"0000246506" "04214" "00328279" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000246528" "04214" "00328301" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000246533" "04214" "00328306" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy" ""
"0000246534" "04214" "00328307" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone dystrophy" ""
"0000246561" "04214" "00328334" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy" ""
"0000246569" "04214" "00328342" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy" ""
"0000246681" "04214" "00328455" "00000" "Familial, autosomal recessive" "9y" "cone/cone-rod dystrophy (HP:0000548)" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000246682" "04214" "00328456" "00000" "Familial, autosomal recessive" "15y" "cone/cone-rod dystrophy (HP:0000548)" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000246688" "04214" "00328462" "00000" "Familial, autosomal recessive" "13y" "cone/cone-rod dystrophy (HP:0000548), retinal flecks (HP:0012045)" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000246689" "04214" "00328463" "00000" "Familial, autosomal recessive" "13y" "cone/cone-rod dystrophy (HP:0000548), retinal flecks (HP:0012045)" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000246690" "04214" "00328464" "00000" "Familial, autosomal recessive" "13y" "cone/cone-rod dystrophy (HP:0000548), retinal flecks (HP:0012045)" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000246691" "04214" "00328465" "00000" "Familial, autosomal recessive" "11y" "cone/cone-rod dystrophy (HP:0000548), retinal flecks (HP:0012045)" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000246692" "04214" "00328466" "00000" "Familial, autosomal recessive" "15y" "macular dystrophy (HP:0007754)" "" "" "" "" "" "" "" "" "" "macular dystrophy" ""
"0000246712" "04214" "00328486" "00000" "Familial, autosomal recessive" "8y" "retinal dystrophy (HP:0000556)" "" "" "" "" "" "" "" "" "" "retinal dystrophy" ""
"0000246739" "04214" "00328513" "00000" "Unknown" "7y" "cone/cone-rod dystrophy (HP:0000548)" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000246740" "04214" "00328514" "00000" "Unknown" "8y" "cone/cone-rod dystrophy (HP:0000548)" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000246741" "04214" "00328515" "00000" "Unknown" "6y" "cone/cone-rod dystrophy (HP:0000548)" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000246742" "04214" "00328516" "00000" "Unknown" "15y" "cone/cone-rod dystrophy (HP:0000548), retinal flecks (HP:0012045)" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000246743" "04214" "00328517" "00000" "Unknown" "9y" "macular dystrophy (HP:0007754), retinal flecks (HP:0012045)" "" "" "" "" "" "" "" "" "" "macular dystrophy" ""
"0000249491" "04214" "00331298" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000250054" "04214" "00331863" "00000" "Familial, autosomal dominant" "44y" "reduced visual acuity; scotopic ERG normal; photopic ERG normal" "18y" "" "reduced visual acuity" "" "" "" "" "" "" "macular dystrophy or cone-rod dystrophy" ""
"0000250055" "04214" "00331864" "00000" "Familial, autosomal dominant" "51y" "reduced visual acuity; scotopic ERG normal; photopic ERG normal" "50y" "" "reduced visual acuity" "" "" "" "" "" "" "macular dystrophy or cone-rod dystrophy" ""
"0000250056" "04214" "00331865" "00000" "Familial, autosomal recessive" "34y" "reduced visual acuity" "27y" "" "reduced visual acuity" "" "" "" "" "" "" "macular dystrophy or cone-rod dystrophy" ""
"0000250057" "04214" "00331866" "00000" "Familial, autosomal recessive" "11y" "reduced visual acuity; scotopic ERG borderline; photopic ERG borderline" "6y" "" "reduced visual acuity" "" "" "" "" "" "" "macular dystrophy or cone-rod dystrophy" ""
"0000250058" "04214" "00331867" "00000" "Familial, autosomal dominant" "76y" "reduced visual acuity" "60y" "" "reduced visual acuity" "" "" "" "" "" "" "macular dystrophy or cone-rod dystrophy" ""
"0000250059" "04214" "00331868" "00000" "Familial, autosomal dominant" "20y" "reduced visual acuity; EOG normal; scotopic ERG borderline; photopic ERG borderline" "18y" "" "reduced visual acuity" "" "" "" "" "" "" "macular dystrophy or cone-rod dystrophy" ""
"0000250060" "04214" "00331869" "00000" "Familial, autosomal dominant" "60y" "reduced visual acuity; scotopic ERG normal; photopic ERG borderline" "60y" "" "reduced visual acuity" "" "" "" "" "" "" "macular dystrophy or cone-rod dystrophy" ""
"0000250061" "04214" "00331870" "00000" "Familial, autosomal recessive" "17y" "reduced visual acuity; scotopic ERG normalreduced; photopic ERG borderline" "9y" "" "reduced visual acuity" "" "" "" "" "" "" "macular dystrophy or cone-rod dystrophy" ""
"0000250062" "04214" "00331871" "00000" "Familial, autosomal dominant" "32y" "reduced visual acuity; scotopic ERG normalreduced; photopic ERG borderline" "23y" "" "reduced visual acuity" "" "" "" "" "" "" "macular dystrophy or cone-rod dystrophy" ""
"0000250063" "04214" "00331872" "00000" "Familial, autosomal recessive" "15y" "reduced visual acuity; scotopic ERG normal; photopic ERG borderline" "13y" "" "reduced visual acuity" "" "" "" "" "" "" "macular dystrophy or cone-rod dystrophy" ""
"0000250064" "04214" "00331873" "00000" "Familial, autosomal dominant" "35y" "reduced visual acuity; scotopic ERG normalreduced; photopic ERG borderline" "32y" "" "reduced visual acuity" "" "" "" "" "" "" "macular dystrophy or cone-rod dystrophy" ""
"0000250065" "04214" "00331874" "00000" "Familial, autosomal dominant" "29y" "reduced visual acuity; scotopic ERG normal; photopic ERG borderline" "23y" "" "reduced visual acuity" "" "" "" "" "" "" "macular dystrophy or cone-rod dystrophy" ""
"0000250066" "04214" "00331875" "00000" "Familial, autosomal dominant" "40y" "reduced visual acuity; scotopic ERG normal; photopic ERG borderline" "35y" "" "reduced visual acuity" "" "" "" "" "" "" "macular dystrophy or cone-rod dystrophy" ""
"0000250067" "04214" "00331876" "00000" "Familial, autosomal dominant" "40y" "reduced visual acuity; scotopic ERG normal; photopic ERG normal" "20y" "" "reduced visual acuity" "" "" "" "" "" "" "macular dystrophy or cone-rod dystrophy" ""
"0000250068" "04214" "00331877" "00000" "Familial, autosomal dominant" "67y" "reduced visual acuity; scotopic ERG normalreduced; photopic ERG borderline" "39y" "" "reduced visual acuity" "" "" "" "" "" "" "macular dystrophy or cone-rod dystrophy" ""
"0000250069" "04214" "00331878" "00000" "Familial, autosomal recessive" "45y" "reduced visual acuity" "35y" "" "reduced visual acuity" "" "" "" "" "" "" "macular dystrophy or cone-rod dystrophy" ""
"0000250070" "04214" "00331879" "00000" "Familial, autosomal dominant" "28y" "reduced visual acuity; scotopic ERG normalreduced; photopic ERG extinguished" "" "" "reduced visual acuity" "" "" "" "" "" "" "macular dystrophy or cone-rod dystrophy" ""
"0000250071" "04214" "00331880" "00000" "Familial, autosomal dominant" "18y" "reduced visual acuity; scotopic ERG normal; photopic ERG borderline" "14y" "" "reduced visual acuity" "" "" "" "" "" "" "macular dystrophy or cone-rod dystrophy" ""
"0000250072" "04214" "00331881" "00000" "Familial, autosomal dominant" "54y" "reduced visual acuity" "43y" "" "reduced visual acuity" "" "" "" "" "" "" "macular dystrophy or cone-rod dystrophy" ""
"0000250073" "04214" "00331882" "00000" "Familial, autosomal dominant" "29y" "reduced visual acuity; scotopic ERG normal; photopic ERG normal" "27y" "" "reduced visual acuity" "" "" "" "" "" "" "macular dystrophy or cone-rod dystrophy" ""
"0000250074" "04214" "00331883" "00000" "Familial, autosomal recessive" "35y" "reduced visual acuity; scotopic ERG normalreduced; photopic ERG extinguished" "7y" "" "reduced visual acuity" "" "" "" "" "" "" "macular dystrophy or cone-rod dystrophy" ""
"0000250075" "04214" "00331884" "00000" "Familial, autosomal recessive" "66y" "reduced visual acuity; EOG normal; scotopic ERG normal; photopic ERG normal" "19y" "" "reduced visual acuity" "" "" "" "" "" "" "macular dystrophy or cone-rod dystrophy" ""
"0000250076" "04214" "00331885" "00000" "Familial, autosomal dominant" "49y" "reduced visual acuity; scotopic ERG borderline; photopic ERG borderline" "44y" "" "reduced visual acuity" "" "" "" "" "" "" "macular dystrophy or cone-rod dystrophy" ""
"0000250077" "04214" "00331886" "00000" "Familial, autosomal dominant" "37y" "reduced visual acuity; scotopic ERG normalreduced; photopic ERG borderline" "18y" "" "reduced visual acuity" "" "" "" "" "" "" "macular dystrophy or cone-rod dystrophy" ""
"0000250078" "04214" "00331887" "00000" "Familial, autosomal recessive" "56y" "reduced visual acuity; scotopic ERG normalreduced; photopic ERG borderline" "30y" "" "reduced visual acuity" "" "" "" "" "" "" "macular dystrophy or cone-rod dystrophy" ""
"0000250079" "04214" "00331888" "00000" "Familial, autosomal dominant" "42y" "reduced visual acuity; scotopic ERG normal; photopic ERG borderline" "32y" "" "reduced visual acuity" "" "" "" "" "" "" "macular dystrophy or cone-rod dystrophy" ""
"0000250080" "04214" "00331889" "00000" "Familial, autosomal dominant" "39y" "reduced visual acuity" "19y" "" "reduced visual acuity" "" "" "" "" "" "" "macular dystrophy or cone-rod dystrophy" ""
"0000250081" "04214" "00331890" "00000" "Familial, autosomal recessive" "36y" "reduced visual acuity; scotopic ERG normal; photopic ERG borderline" "31y" "" "reduced visual acuity" "" "" "" "" "" "" "macular dystrophy or cone-rod dystrophy" ""
"0000250082" "04214" "00331891" "00000" "Familial, autosomal dominant" "14y" "reduced visual acuity; scotopic ERG borderline; photopic ERG borderline" "11y" "" "reduced visual acuity" "" "" "" "" "" "" "macular dystrophy or cone-rod dystrophy" ""
"0000250083" "04214" "00331892" "00000" "Familial, autosomal dominant" "55y" "reduced visual acuity; scotopic ERG normal; photopic ERG borderline" "44y" "" "reduced visual acuity" "" "" "" "" "" "" "macular dystrophy or cone-rod dystrophy" ""
"0000250084" "04214" "00331893" "00000" "Familial, autosomal dominant" "35y" "reduced visual acuity; scotopic ERG not analyzable; photopic ERG not analyzable" "24y" "" "reduced visual acuity" "" "" "" "" "" "" "macular dystrophy or cone-rod dystrophy" ""
"0000250085" "04214" "00331894" "00000" "Familial, autosomal dominant" "16y" "reduced visual acuity; scotopic ERG normalreduced; photopic ERG borderline" "8y" "" "reduced visual acuity" "" "" "" "" "" "" "macular dystrophy or cone-rod dystrophy" ""
"0000250086" "04214" "00331895" "00000" "Familial, autosomal dominant" "24y" "reduced visual acuity; EOG borderline; scotopic ERG normal; photopic ERG borderline" "6y" "" "reduced visual acuity" "" "" "" "" "" "" "macular dystrophy or cone-rod dystrophy" ""
"0000250087" "04214" "00331896" "00000" "Familial, autosomal dominant" "49y" "reduced visual acuity; scotopic ERG normal; photopic ERG borderline" "46y" "" "reduced visual acuity" "" "" "" "" "" "" "macular dystrophy or cone-rod dystrophy" ""
"0000250088" "04214" "00331897" "00000" "Familial, autosomal dominant" "34y" "reduced visual acuity; scotopic ERG borderline; photopic ERG borderline" "31y" "" "reduced visual acuity" "" "" "" "" "" "" "macular dystrophy or cone-rod dystrophy" ""
"0000250089" "04214" "00331898" "00000" "Familial, autosomal dominant" "60y" "reduced visual acuity" "50y" "" "reduced visual acuity" "" "" "" "" "" "" "macular dystrophy or cone-rod dystrophy" ""
"0000250090" "04214" "00331899" "00000" "Familial, autosomal dominant" "50y" "reduced visual acuity" "44y" "" "reduced visual acuity" "" "" "" "" "" "" "macular dystrophy or cone-rod dystrophy" ""
"0000250091" "04214" "00331900" "00000" "Familial, autosomal dominant" "39y" "reduced visual acuity; scotopic ERG not analyzable; photopic ERG not analyzable" "14y" "" "reduced visual acuity" "" "" "" "" "" "" "macular dystrophy or cone-rod dystrophy" ""
"0000250092" "04214" "00331901" "00000" "Familial, autosomal recessive" "40y" "reduced visual acuity; scotopic ERG normalreduced; photopic ERG borderline" "12y" "" "reduced visual acuity" "" "" "" "" "" "" "macular dystrophy or cone-rod dystrophy" ""
"0000250093" "04214" "00331902" "00000" "Familial, autosomal dominant" "18y" "reduced visual acuity; scotopic ERG borderline; photopic ERG borderline" "17y" "" "reduced visual acuity" "" "" "" "" "" "" "macular dystrophy or cone-rod dystrophy" ""
"0000250094" "04214" "00331903" "00000" "Familial, autosomal dominant" "40y" "photophobia; scotopic ERG normal; photopic ERG borderline" "38y" "" "photophobia" "" "" "" "" "" "" "macular dystrophy or cone-rod dystrophy" ""
"0000250095" "04214" "00331904" "00000" "Familial, autosomal recessive" "62y" "metamorphopsia" "31y" "" "metamorphopsia" "" "" "" "" "" "" "macular dystrophy or cone-rod dystrophy" ""
"0000250096" "04214" "00331905" "00000" "Familial, autosomal dominant" "16y" "reduced visual acuity; scotopic ERG normalreduced; photopic ERG borderline" "9y" "" "reduced visual acuity" "" "" "" "" "" "" "macular dystrophy or cone-rod dystrophy" ""
"0000250097" "04214" "00331906" "00000" "Familial, autosomal recessive" "17y" "reduced visual acuity; scotopic ERG normal; photopic ERG normal" "7y" "" "reduced visual acuity" "" "" "" "" "" "" "macular dystrophy or cone-rod dystrophy" ""
"0000250098" "04214" "00331907" "00000" "Familial, autosomal recessive" "54y" "reduced visual acuity; scotopic ERG normal; photopic ERG normal" "20y" "" "reduced visual acuity" "" "" "" "" "" "" "macular dystrophy or cone-rod dystrophy" ""
"0000250099" "04214" "00331908" "00000" "Familial, autosomal dominant" "23y" "reduced visual acuity; scotopic ERG normalreduced; photopic ERG borderline" "20y" "" "reduced visual acuity" "" "" "" "" "" "" "macular dystrophy or cone-rod dystrophy" ""
"0000250100" "04214" "00331909" "00000" "Familial, autosomal dominant" "47y" "reduced visual acuity; scotopic ERG normalreduced; photopic ERG borderline" "45y" "" "reduced visual acuity" "" "" "" "" "" "" "macular dystrophy or cone-rod dystrophy" ""
"0000250101" "04214" "00331910" "00000" "Familial, autosomal dominant" "25y" "reduced visual acuity; scotopic ERG normal; photopic ERG normal" "24y" "" "reduced visual acuity" "" "" "" "" "" "" "macular dystrophy or cone-rod dystrophy" ""
"0000250102" "04214" "00331911" "00000" "Familial, autosomal recessive" "58y" "reduced visual acuity; scotopic ERG normal; photopic ERG normal" "45y" "" "reduced visual acuity" "" "" "" "" "" "" "macular dystrophy or cone-rod dystrophy" ""
"0000250103" "04214" "00331912" "00000" "Familial, autosomal dominant" "10y" "reduced visual acuity" "8y" "" "reduced visual acuity" "" "" "" "" "" "" "macular dystrophy or cone-rod dystrophy" ""
"0000250104" "04214" "00331913" "00000" "Familial, autosomal dominant" "37y" "reduced visual acuity; scotopic ERG normal; photopic ERG normal" "13y" "" "reduced visual acuity" "" "" "" "" "" "" "macular dystrophy or cone-rod dystrophy" ""
"0000250105" "04214" "00331914" "00000" "Familial, autosomal dominant" "29y" "reduced visual acuity; scotopic ERG normal; photopic ERG normal" "25y" "" "reduced visual acuity" "" "" "" "" "" "" "macular dystrophy or cone-rod dystrophy" ""
"0000250106" "04214" "00331915" "00000" "Familial, autosomal dominant" "41y" "reduced visual acuity; scotopic ERG borderline; photopic ERG borderline" "17y" "" "reduced visual acuity" "" "" "" "" "" "" "macular dystrophy or cone-rod dystrophy" ""
"0000250107" "04214" "00331916" "00000" "Familial, autosomal dominant" "23y" "reduced visual acuity; scotopic ERG extinguished; photopic ERG extinguished" "8y" "" "reduced visual acuity" "" "" "" "" "" "" "macular dystrophy or cone-rod dystrophy" ""
"0000250108" "04214" "00331917" "00000" "Familial, autosomal dominant" "48y" "reduced visual acuity; scotopic ERG normal; photopic ERG borderline" "24y" "" "reduced visual acuity" "" "" "" "" "" "" "macular dystrophy or cone-rod dystrophy" ""
"0000250109" "04214" "00331918" "00000" "Familial, autosomal dominant" "26y" "reduced visual acuity; scotopic ERG not analyzable; photopic ERG not analyzable" "10y" "" "reduced visual acuity" "" "" "" "" "" "" "macular dystrophy or cone-rod dystrophy" ""
"0000250110" "04214" "00331919" "00000" "Familial, autosomal recessive" "31y" "reduced visual acuity; scotopic ERG normal; photopic ERG borderline" "12y" "" "reduced visual acuity" "" "" "" "" "" "" "macular dystrophy or cone-rod dystrophy" ""
"0000250111" "04214" "00331920" "00000" "Familial, autosomal dominant" "50y" "reduced visual acuity; scotopic ERG borderline; photopic ERG borderline" "25y" "" "reduced visual acuity" "" "" "" "" "" "" "macular dystrophy or cone-rod dystrophy" ""
"0000250112" "04214" "00331921" "00000" "Familial, autosomal dominant" "16y" "reduced visual acuity; scotopic ERG normal; photopic ERG borderline" "13y" "" "reduced visual acuity" "" "" "" "" "" "" "macular dystrophy or cone-rod dystrophy" ""
"0000250113" "04214" "00331922" "00000" "Familial, autosomal recessive" "50y" "reduced visual acuity; scotopic ERG normalreduced; photopic ERG borderline" "25y" "" "reduced visual acuity" "" "" "" "" "" "" "macular dystrophy or cone-rod dystrophy" ""
"0000250114" "04214" "00331923" "00000" "Familial, autosomal dominant" "27y" "reduced visual acuity; scotopic ERG normal; photopic ERG borderline" "17y" "" "reduced visual acuity" "" "" "" "" "" "" "macular dystrophy or cone-rod dystrophy" ""
"0000250115" "04214" "00331924" "00000" "Familial, autosomal dominant" "30y" "reduced visual acuity; scotopic ERG normal; photopic ERG borderline" "25y" "" "reduced visual acuity" "" "" "" "" "" "" "macular dystrophy or cone-rod dystrophy" ""
"0000250116" "04214" "00331925" "00000" "Familial, autosomal dominant" "45y" "haze, metamorphopsia; scotopic ERG borderline; photopic ERG borderline" "31y" "" "haze, metamorphopsia" "" "" "" "" "" "" "macular dystrophy or cone-rod dystrophy" ""
"0000250117" "04214" "00331926" "00000" "Familial, autosomal recessive" "18y" "reduced visual acuity" "7y" "" "reduced visual acuity" "" "" "" "" "" "" "macular dystrophy or cone-rod dystrophy" ""
"0000250118" "04214" "00331927" "00000" "Familial, autosomal dominant" "51y" "reduced visual acuity; scotopic ERG normalreduced; photopic ERG borderline" "32y" "" "reduced visual acuity" "" "" "" "" "" "" "macular dystrophy or cone-rod dystrophy" ""
"0000250119" "04214" "00331928" "00000" "Familial, autosomal dominant" "61y" "reduced visual acuity" "55y" "" "reduced visual acuity" "" "" "" "" "" "" "macular dystrophy or cone-rod dystrophy" ""
"0000250120" "04214" "00331929" "00000" "Familial, autosomal dominant" "32y" "reduced visual acuity; scotopic ERG normal; photopic ERG normal" "12y" "" "reduced visual acuity" "" "" "" "" "" "" "macular dystrophy or cone-rod dystrophy" ""
"0000250121" "04214" "00331930" "00000" "Familial, autosomal dominant" "45y" "reduced visual acuity; scotopic ERG normal; photopic ERG borderline" "37y" "" "reduced visual acuity" "" "" "" "" "" "" "macular dystrophy or cone-rod dystrophy" ""
"0000250122" "04214" "00331931" "00000" "Familial, autosomal dominant" "13y" "reduced visual acuity; scotopic ERG borderline; photopic ERG borderline" "11y" "" "reduced visual acuity" "" "" "" "" "" "" "macular dystrophy or cone-rod dystrophy" ""
"0000250123" "04214" "00331932" "00000" "Familial, autosomal dominant" "65y" "reduced visual acuity; EOG normal; scotopic ERG normal; photopic ERG normal" "63y" "" "reduced visual acuity" "" "" "" "" "" "" "macular dystrophy or cone-rod dystrophy" ""
"0000250124" "04214" "00331933" "00000" "Familial, autosomal dominant" "55y" "metamorphopsia, photophobia; scotopic ERG normal; photopic ERG borderline" "52y" "" "metamorphopsia, photophobia" "" "" "" "" "" "" "macular dystrophy or cone-rod dystrophy" ""
"0000250125" "04214" "00331934" "00000" "Familial, autosomal dominant" "35y" "incidental finding; scotopic ERG normal; photopic ERG normal" "35y" "" "incidental finding" "" "" "" "" "" "" "macular dystrophy or cone-rod dystrophy" ""
"0000250126" "04214" "00331935" "00000" "Familial, autosomal dominant" "63y" "reduced visual acuity; scotopic ERG extinguished; photopic ERG extinguished" "8y" "" "reduced visual acuity" "" "" "" "" "" "" "macular dystrophy or cone-rod dystrophy" ""
"0000250127" "04214" "00331936" "00000" "Familial, autosomal dominant" "22y" "reduced visual acuity; scotopic ERG normal; photopic ERG borderline" "14y" "" "reduced visual acuity" "" "" "" "" "" "" "macular dystrophy or cone-rod dystrophy" ""
"0000250128" "04214" "00331937" "00000" "Familial, autosomal dominant" "38y" "reduced visual acuity; scotopic ERG borderline; photopic ERG borderline" "37y" "" "reduced visual acuity" "" "" "" "" "" "" "macular dystrophy or cone-rod dystrophy" ""
"0000250129" "04214" "00331938" "00000" "Familial, autosomal dominant" "15y" "reduced visual acuity; scotopic ERG normal; photopic ERG normal" "13y" "" "reduced visual acuity" "" "" "" "" "" "" "macular dystrophy or cone-rod dystrophy" ""
"0000250130" "04214" "00331939" "00000" "Familial, autosomal dominant" "42y" "reduced visual acuity; scotopic ERG normalreduced; photopic ERG borderline" "40y" "" "reduced visual acuity" "" "" "" "" "" "" "macular dystrophy or cone-rod dystrophy" ""
"0000250131" "04214" "00331940" "00000" "Familial, autosomal dominant" "74y" "reduced visual acuity" "58y" "" "reduced visual acuity" "" "" "" "" "" "" "macular dystrophy or cone-rod dystrophy" ""
"0000250132" "04214" "00331941" "00000" "Familial, autosomal dominant" "28y" "reduced visual acuity; scotopic ERG normalreduced; photopic ERG borderline" "8y" "" "reduced visual acuity" "" "" "" "" "" "" "macular dystrophy or cone-rod dystrophy" ""
"0000250133" "04214" "00331942" "00000" "Familial, autosomal dominant" "18y" "reduced visual acuity; scotopic ERG normalreduced; photopic ERG borderline" "5y" "" "reduced visual acuity" "" "" "" "" "" "" "macular dystrophy or cone-rod dystrophy" ""
"0000250134" "04214" "00331943" "00000" "Familial, autosomal dominant" "14y" "reduced visual acuity; scotopic ERG normal; photopic ERG borderline" "8y" "" "reduced visual acuity" "" "" "" "" "" "" "macular dystrophy or cone-rod dystrophy" ""
"0000250135" "04214" "00331944" "00000" "Familial, autosomal dominant" "35y" "reduced visual acuity" "5y" "" "reduced visual acuity" "" "" "" "" "" "" "macular dystrophy or cone-rod dystrophy" ""
"0000250136" "04214" "00331945" "00000" "Familial, autosomal dominant" "62y" "reduced visual acuity; scotopic ERG normalreduced; photopic ERG borderline" "21y" "" "reduced visual acuity" "" "" "" "" "" "" "macular dystrophy or cone-rod dystrophy" ""
"0000250137" "04214" "00331946" "00000" "Familial, autosomal recessive" "37y" "reduced visual acuity; scotopic ERG borderline; photopic ERG borderline" "20y" "" "reduced visual acuity" "" "" "" "" "" "" "macular dystrophy or cone-rod dystrophy" ""
"0000250138" "04214" "00331947" "00000" "Familial, autosomal dominant" "56y" "reduced visual acuity; scotopic ERG normal; photopic ERG normal" "53y" "" "reduced visual acuity" "" "" "" "" "" "" "macular dystrophy or cone-rod dystrophy" ""
"0000250139" "04214" "00331948" "00000" "Familial, autosomal dominant" "11y" "reduced visual acuity; scotopic ERG not analyzable; photopic ERG not analyzable" "8y" "" "reduced visual acuity" "" "" "" "" "" "" "macular dystrophy or cone-rod dystrophy" ""
"0000250140" "04214" "00331949" "00000" "Familial, autosomal recessive" "62y" "reduced visual acuity, night vision problems, photobia" "37y" "" "reduced visual acuity, night vision problems, photobia" "" "" "" "" "" "" "macular dystrophy or cone-rod dystrophy" ""
"0000250141" "04214" "00331950" "00000" "Familial, autosomal dominant" "55y" "reduced visual acuity" "54y" "" "reduced visual acuity" "" "" "" "" "" "" "macular dystrophy or cone-rod dystrophy" ""
"0000250142" "04214" "00331951" "00000" "Familial, autosomal recessive" "61y" "reduced visual acuity; scotopic ERG normal; photopic ERG borderline" "59y" "" "reduced visual acuity" "" "" "" "" "" "" "macular dystrophy or cone-rod dystrophy" ""
"0000250143" "04214" "00331952" "00000" "Familial, autosomal recessive" "66y" "reduced visual acuity; scotopic ERG normal; photopic ERG borderline" "64y" "" "reduced visual acuity" "" "" "" "" "" "" "macular dystrophy or cone-rod dystrophy" ""
"0000250144" "04214" "00331953" "00000" "Familial, autosomal dominant" "36y" "reduced visual acuity; scotopic ERG normal; photopic ERG normal" "16y" "" "reduced visual acuity" "" "" "" "" "" "" "macular dystrophy or cone-rod dystrophy" ""
"0000250145" "04214" "00331954" "00000" "Familial, autosomal dominant" "55y" "reduced visual acuity; scotopic ERG normalreduced; photopic ERG borderline" "42y" "" "reduced visual acuity" "" "" "" "" "" "" "macular dystrophy or cone-rod dystrophy" ""
"0000250146" "04214" "00331955" "00000" "Familial, autosomal dominant" "11y" "reduced visual acuity; scotopic ERG normalreduced; photopic ERG borderline" "10y" "" "reduced visual acuity" "" "" "" "" "" "" "macular dystrophy or cone-rod dystrophy" ""
"0000250147" "04214" "00331956" "00000" "Familial, autosomal dominant" "28y" "reduced visual acuity, haze; scotopic ERG normalreduced; photopic ERG borderline" "23y" "" "reduced visual acuity, haze" "" "" "" "" "" "" "macular dystrophy or cone-rod dystrophy" ""
"0000250368" "04214" "00332181" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000250369" "04214" "00332182" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000250370" "04214" "00332183" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000250371" "04214" "00332184" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000250372" "04214" "00332185" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000250389" "04214" "00332202" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "nanophthalmos, maculopathy" ""
"0000250397" "04214" "00332210" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" ""
"0000250406" "04214" "00332219" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000250410" "04214" "00332223" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "nanophthalmos, maculopathy" ""
"0000250413" "04214" "00332226" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000250446" "04214" "00332259" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "EVR4" "exudative vitreoretinopathy" ""
"0000250464" "04214" "00332277" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis, early-onset retinal dystrophy" ""
"0000250466" "04214" "00332279" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis, early-onset retinal dystrophy" ""
"0000250470" "04214" "00332283" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis, early-onset retinal dystrophy" ""
"0000250471" "04214" "00332284" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis, early-onset retinal dystrophy" ""
"0000250472" "04214" "00332285" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis, early-onset retinal dystrophy" ""
"0000250678" "04214" "00332494" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000250679" "04214" "00332495" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Stargardt disease, late onset" ""
"0000250686" "04214" "00332502" "00000" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa (XL)" ""
"0000250695" "04214" "00332511" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinal dystrophy" ""
"0000250696" "04214" "00332512" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "macular dystrophy" ""
"0000251170" "00420" "00332984" "03971" "Familial, autosomal recessive" "" "" "07y" "09y" "" "" "" "" "" "" "" "" ""
"0000251506" "00420" "00333320" "03971" "Familial, autosomal recessive" "" "" "06y" "07y" "" "" "" "" "" "" "" "" ""
"0000251507" "00420" "00333321" "03971" "Familial, autosomal recessive" "" "" "17y" "21y" "" "" "" "" "" "" "" "" ""
"0000251508" "04214" "00333322" "00000" "Familial, autosomal recessive" "" "" "43y" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000251509" "04214" "00333323" "00000" "Familial, autosomal recessive" "" "" "8y" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000251510" "04214" "00333324" "00000" "Familial, autosomal recessive" "" "" "41y" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000251511" "04214" "00333325" "00000" "Familial, autosomal recessive" "" "" "13y" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000251512" "04214" "00333326" "00000" "Familial, autosomal recessive" "" "" "10y" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000251513" "04214" "00333327" "00000" "Familial, autosomal recessive" "" "" "5y" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000251514" "04214" "00333328" "00000" "Familial, autosomal recessive" "" "" "6y" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000251515" "04214" "00333329" "00000" "Familial, autosomal recessive" "" "" "8y" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000251516" "04214" "00333330" "00000" "Familial, autosomal recessive" "" "" "7y" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000251517" "04214" "00333331" "00000" "Familial, autosomal recessive" "" "" "15y" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000251518" "04214" "00333332" "00000" "Familial, autosomal recessive" "" "" "13y" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000251519" "04214" "00333333" "00000" "Familial, autosomal recessive" "" "" "20y" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000251524" "04214" "00333338" "00000" "Familial, autosomal recessive" "" "" "9y" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000251525" "04214" "00333339" "00000" "Familial, autosomal recessive" "" "" "12y" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000251526" "04214" "00333340" "00000" "Familial, autosomal recessive" "" "" "10y" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000251527" "04214" "00333341" "00000" "Familial, autosomal recessive" "" "" "25y" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000251528" "04214" "00333342" "00000" "Familial, autosomal recessive" "" "" "17y" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000251529" "04214" "00333343" "00000" "Familial, autosomal recessive" "" "" "18y" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000251530" "04214" "00333344" "00000" "Familial, autosomal recessive" "" "" "7y" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000251535" "04214" "00333349" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinal degeneration" ""
"0000251540" "04214" "00333353" "00000" "Familial, autosomal dominant" "27y" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000251541" "04214" "00333354" "00000" "Familial, autosomal recessive" "35y" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000251582" "04214" "00333395" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "RP" ""
"0000251594" "04214" "00333407" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "RP" ""
"0000251613" "04214" "00333426" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "RP" ""
"0000251614" "04214" "00333427" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "RP" ""
"0000251617" "04214" "00333430" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "achromatopsia" ""
"0000251652" "04214" "00333467" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000251653" "04214" "00333468" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000251659" "04214" "00333474" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000251675" "00420" "00333490" "03971" "Familial, autosomal recessive" "" "" "20y" "26y" "" "" "" "" "" "" "" "" ""
"0000251676" "00420" "00333491" "03971" "Familial, autosomal recessive" "" "" "17y" "23y" "" "" "" "" "" "" "" "" ""
"0000251678" "00420" "00333492" "03971" "Familial, autosomal recessive" "" "" "15y" "17y" "" "" "" "" "" "" "" "" ""
"0000251680" "00420" "00333494" "03971" "Familial, autosomal recessive" "" "" "20y" "21y" "" "" "" "" "" "" "" "" ""
"0000251682" "00420" "00333496" "03971" "Familial, autosomal recessive" "" "" "08y" "10y" "" "" "" "" "" "" "" "" ""
"0000251683" "00420" "00333498" "03971" "Familial, autosomal recessive" "" "" "08y" "08y" "" "" "" "" "" "" "" "" ""
"0000251684" "00420" "00333499" "03971" "Familial, autosomal recessive" "" "" "15y" "15y" "" "" "" "" "" "" "" "" ""
"0000251685" "00420" "00333500" "03971" "Familial, autosomal recessive" "" "" "06y" "11y" "" "" "" "" "" "" "" "" ""
"0000251686" "00420" "00333501" "03971" "Familial, autosomal recessive" "" "" "11y" "11y" "" "" "" "" "" "" "" "" ""
"0000251687" "00420" "00333502" "03971" "Familial, autosomal recessive" "" "" "11y" "16y" "" "" "" "" "" "" "" "" ""
"0000251841" "04214" "00333657" "00000" "Familial, autosomal recessive" "36y" "clinical category IIA" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000251842" "04214" "00333658" "00000" "Familial, autosomal recessive" "47y" "clinical category IIA" "" "" "" "" "" "" "" "" "" "Stargardt disease v pattern dystrophy" ""
"0000251843" "04214" "00333659" "00000" "Familial, autosomal recessive" "43y" "clinical category IIA" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000251844" "04214" "00333660" "00000" "Familial, autosomal recessive" "57y" "clinical category IIA" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000251845" "04214" "00333661" "00000" "Familial, autosomal recessive" "11y" "clinical category IIA" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000251846" "04214" "00333662" "00000" "Familial, autosomal recessive" "22y" "clinical category IIA" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000251847" "04214" "00333663" "00000" "Familial, autosomal recessive" "57y" "clinical category IIA" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000251848" "04214" "00333664" "00000" "Familial, autosomal recessive" "38y" "clinical category IIA" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000251849" "04214" "00333665" "00000" "Familial, autosomal recessive" "10y" "clinical category IIA" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000251850" "04214" "00333666" "00000" "Familial, autosomal recessive" "15y" "clinical category IIA" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000251851" "04214" "00333667" "00000" "Familial, autosomal recessive" "60y" "clinical category IIA" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000251852" "04214" "00333668" "00000" "Familial, autosomal recessive" "31y" "clinical category IIA" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000251853" "04214" "00333669" "00000" "Familial, autosomal recessive" "27y" "clinical category IIA" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000251854" "04214" "00333670" "00000" "Familial, autosomal recessive" "34y" "clinical category IIA" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000251855" "04214" "00333671" "00000" "Familial, autosomal recessive" "56y" "clinical category IIA" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000251856" "04214" "00333672" "00000" "Familial, autosomal recessive" "25y" "clinical category IIA" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000251857" "04214" "00333673" "00000" "Familial, autosomal recessive" "48y" "clinical category IIA" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000251858" "04214" "00333674" "00000" "Familial, autosomal recessive" "47y" "clinical category IIA" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000251859" "04214" "00333675" "00000" "Familial, autosomal recessive" "40y" "clinical category IIA" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000251860" "04214" "00333676" "00000" "Familial, autosomal recessive" "33y" "clinical category IIA" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000251886" "04214" "00333702" "00000" "Familial, autosomal recessive" "58y" "clinical category IIC" "" "" "" "" "" "" "" "" "" "pattern dystrophy v Stargardt disease" ""
"0000251887" "04214" "00333703" "00000" "Familial, autosomal recessive" "60y" "clinical category IIC" "" "" "" "" "" "" "" "" "" "pattern dystrophy v Stargardt disease" ""
"0000251888" "04214" "00333704" "00000" "Familial, autosomal recessive" "48y" "clinical category IIC" "" "" "" "" "" "" "" "" "" "pattern dystrophy v Stargardt disease" ""
"0000252299" "04214" "00334114" "00000" "Familial, autosomal recessive" "44y" "clinical category IIA" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000252300" "04214" "00334115" "00000" "Familial, autosomal recessive" "41y" "clinical category IIA" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000252301" "04214" "00334116" "00000" "Familial, autosomal recessive" "41y" "clinical category IIA" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000252302" "04214" "00334117" "00000" "Familial, autosomal recessive" "67y" "clinical category IIA" "" "" "" "" "" "" "" "" "" "Stargardt disease v pattern dystrophy" ""
"0000252303" "04214" "00334118" "00000" "Familial, autosomal recessive" "39y" "clinical category IIA" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000252304" "04214" "00334119" "00000" "Familial, autosomal recessive" "46y" "clinical category IIA" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000252305" "04214" "00334120" "00000" "Familial, autosomal recessive" "66y" "clinical category IIA" "" "" "" "" "" "" "" "" "" "Stargardt disease v pattern dystrophy" ""
"0000252306" "04214" "00334121" "00000" "Familial, autosomal recessive" "54y" "clinical category IIA" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000252307" "04214" "00334122" "00000" "Familial, autosomal recessive" "33y" "clinical category IIA" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000252308" "04214" "00334123" "00000" "Familial, autosomal recessive" "49y" "clinical category IIA" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000252309" "04214" "00334124" "00000" "Familial, autosomal recessive" "44y" "clinical category IIA" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000252310" "04214" "00334125" "00000" "Familial, autosomal recessive" "72y" "clinical category IIA" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000252311" "04214" "00334126" "00000" "Familial, autosomal recessive" "39y" "clinical category IIA" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000252312" "04214" "00334127" "00000" "Familial, autosomal recessive" "19y" "clinical category IIA" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000252313" "04214" "00334128" "00000" "Familial, autosomal recessive" "26y" "clinical category IIA" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000252314" "04214" "00334129" "00000" "Familial, autosomal recessive" "15y" "clinical category IIA" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000252315" "04214" "00334130" "00000" "Familial, autosomal recessive" "16y" "clinical category IIA" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000252316" "04214" "00334131" "00000" "Familial, autosomal recessive" "27y" "clinical category IIA" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000252317" "04214" "00334132" "00000" "Familial, autosomal recessive" "32y" "clinical category IIA" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000252318" "04214" "00334133" "00000" "Familial, autosomal recessive" "58y" "clinical category IIA" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000252319" "04214" "00334134" "00000" "Familial, autosomal recessive" "52y" "clinical category IIA" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000252320" "04214" "00334135" "00000" "Familial, autosomal recessive" "60y" "clinical category IIA" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000252321" "04214" "00334136" "00000" "Familial, autosomal recessive" "18y" "clinical category IIA" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000252322" "04214" "00334137" "00000" "Familial, autosomal recessive" "15y" "clinical category IIA" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000252323" "04214" "00334138" "00000" "Familial, autosomal recessive" "45y" "clinical category IIA" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000252324" "04214" "00334139" "00000" "Familial, autosomal recessive" "21y" "clinical category IIA" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000252325" "04214" "00334140" "00000" "Familial, autosomal recessive" "31y" "clinical category IIA" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000252326" "04214" "00334141" "00000" "Familial, autosomal recessive" "42y" "clinical category IIA" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000252327" "04214" "00334142" "00000" "Familial, autosomal recessive" "60y" "clinical category IIA" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000252328" "04214" "00334143" "00000" "Familial, autosomal recessive" "12y" "clinical category IIA" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000252329" "04214" "00334144" "00000" "Familial, autosomal recessive" "68y" "clinical category IIA" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000252330" "04214" "00334145" "00000" "Familial, autosomal recessive" "19y" "clinical category IIA" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000252331" "04214" "00334146" "00000" "Familial, autosomal recessive" "14y" "clinical category IIA" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000252332" "04214" "00334147" "00000" "Familial, autosomal recessive" "69y" "clinical category IIA" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000252333" "04214" "00334148" "00000" "Familial, autosomal recessive" "13y" "clinical category IIA" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000252334" "04214" "00334149" "00000" "Familial, autosomal recessive" "36y" "clinical category IIA" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000252335" "04214" "00334150" "00000" "Familial, autosomal recessive" "48y" "clinical category IIA" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000252336" "04214" "00334151" "00000" "Familial, autosomal recessive" "34y" "clinical category IIA" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000252337" "04214" "00334152" "00000" "Familial, autosomal recessive" "12y" "clinical category IIA" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000252338" "04214" "00334153" "00000" "Familial, autosomal recessive" "27y" "clinical category IIA" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000252339" "04214" "00334154" "00000" "Familial, autosomal recessive" "24y" "clinical category IIA" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000252340" "04214" "00334155" "00000" "Familial, autosomal recessive" "8y" "clinical category IIA" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000252341" "04214" "00334156" "00000" "Familial, autosomal recessive" "9y" "clinical category IIA" "" "" "" "" "" "" "" "" "" "Stargardt disease v Batten disease" ""
"0000252342" "04214" "00334157" "00000" "Familial, autosomal recessive" "62y" "clinical category IIA" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000252343" "04214" "00334158" "00000" "Familial, autosomal recessive" "16y" "clinical category IIA" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000252344" "04214" "00334159" "00000" "Familial, autosomal recessive" "49y" "clinical category IIA" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000252345" "04214" "00334160" "00000" "Familial, autosomal recessive" "14y" "clinical category IIA" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000252346" "04214" "00334161" "00000" "Familial, autosomal recessive" "20y" "clinical category IIA" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000252347" "04214" "00334162" "00000" "Familial, autosomal recessive" "44y" "clinical category IIA" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000252348" "04214" "00334163" "00000" "Familial, autosomal recessive" "18y" "clinical category IIA" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000252349" "04214" "00334164" "00000" "Familial, autosomal recessive" "16y" "clinical category IIA" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000252350" "04214" "00334165" "00000" "Familial, autosomal recessive" "14y" "clinical category IIA" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000252351" "04214" "00334166" "00000" "Familial, autosomal recessive" "62y" "clinical category IIA" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000252352" "04214" "00334167" "00000" "Familial, autosomal recessive" "54y" "clinical category IIA" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000252353" "04214" "00334168" "00000" "Familial, autosomal recessive" "56y" "clinical category IIA" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000252354" "04214" "00334169" "00000" "Familial, autosomal recessive" "31y" "clinical category IIA" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000252355" "04214" "00334170" "00000" "Familial, autosomal recessive" "63y" "clinical category IIA" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000252356" "04214" "00334171" "00000" "Familial, autosomal recessive" "27y" "clinical category IIA" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000252357" "04214" "00334172" "00000" "Familial, autosomal recessive" "19y" "clinical category IIA" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000252358" "04214" "00334173" "00000" "Familial, autosomal recessive" "20y" "clinical category IIA" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000252359" "04214" "00334174" "00000" "Familial, autosomal recessive" "55y" "clinical category IIA" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000252360" "04214" "00334175" "00000" "Familial, autosomal recessive" "11y" "clinical category IIA" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000252361" "04214" "00334176" "00000" "Familial, autosomal recessive" "33y" "clinical category IIA" "" "" "" "" "" "" "" "" "" "Stargardt disease v pattern dystrophy" ""
"0000252362" "04214" "00334177" "00000" "Familial, autosomal recessive" "32y" "clinical category IIA" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000252363" "04214" "00334178" "00000" "Familial, autosomal recessive" "24y" "clinical category IIA" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000252364" "04214" "00334179" "00000" "Familial, autosomal recessive" "38y" "clinical category IIA" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000252365" "04214" "00334180" "00000" "Familial, autosomal recessive" "14y" "clinical category IIA" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000252366" "04214" "00334181" "00000" "Familial, autosomal recessive" "41y" "clinical category IIA" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000252367" "04214" "00334182" "00000" "Familial, autosomal recessive" "26y" "clinical category IIA" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000252368" "04214" "00334183" "00000" "Familial, autosomal recessive" "56y" "clinical category IIA" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000252369" "04214" "00334184" "00000" "Familial, autosomal recessive" "52y" "clinical category IIA" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000252370" "04214" "00334185" "00000" "Familial, autosomal recessive" "28y" "clinical category IIA" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000252371" "04214" "00334186" "00000" "Familial, autosomal recessive" "33y" "clinical category IIA" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000252372" "04214" "00334187" "00000" "Familial, autosomal recessive" "35y" "clinical category IIA" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000252373" "04214" "00334188" "00000" "Familial, autosomal recessive" "19y" "clinical category IIA" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000252374" "04214" "00334189" "00000" "Familial, autosomal recessive" "46y" "clinical category IIA" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000252375" "04214" "00334190" "00000" "Familial, autosomal recessive" "23y" "clinical category IIA" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000252376" "04214" "00334191" "00000" "Familial, autosomal recessive" "24y" "clinical category IIA" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000252377" "04214" "00334192" "00000" "Familial, autosomal recessive" "22y" "clinical category IIA" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000252378" "04214" "00334193" "00000" "Familial, autosomal recessive" "59y" "clinical category IIA" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000252379" "04214" "00334194" "00000" "Familial, autosomal recessive" "63y" "clinical category IIA" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000252380" "04214" "00334195" "00000" "Familial, autosomal recessive" "17y" "clinical category IIA" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000252381" "04214" "00334196" "00000" "Familial, autosomal recessive" "48y" "clinical category IIA" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000252382" "04214" "00334197" "00000" "Familial, autosomal recessive" "23y" "clinical category IIA" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000252383" "04214" "00334198" "00000" "Familial, autosomal recessive" "13y" "clinical category IIA" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000252384" "04214" "00334199" "00000" "Familial, autosomal recessive" "17y" "clinical category IIA" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000252385" "04214" "00334200" "00000" "Familial, autosomal recessive" "8y" "clinical category IIA" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000252386" "04214" "00334201" "00000" "Familial, autosomal recessive" "26y" "clinical category IIA" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000252387" "04214" "00334202" "00000" "Familial, autosomal recessive" "10y" "clinical category IIA" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000252388" "04214" "00334203" "00000" "Familial, autosomal recessive" "13y" "clinical category IIA" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000252389" "04214" "00334204" "00000" "Familial, autosomal recessive" "16y" "clinical category IIA" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000252390" "04214" "00334205" "00000" "Familial, autosomal recessive" "62y" "clinical category IIA" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000252391" "04214" "00334206" "00000" "Familial, autosomal recessive" "12y" "clinical category IIA" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000252392" "04214" "00334207" "00000" "Familial, autosomal recessive" "53y" "clinical category IIA" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000252393" "04214" "00334208" "00000" "Familial, autosomal recessive" "15y" "clinical category IIA" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000252394" "04214" "00334209" "00000" "Familial, autosomal recessive" "26y" "clinical category IIA" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000252395" "04214" "00334210" "00000" "Familial, autosomal recessive" "9y" "clinical category IIA" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000252396" "04214" "00334211" "00000" "Familial, autosomal recessive" "15y" "clinical category IIA" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000252397" "04214" "00334212" "00000" "Familial, autosomal recessive" "24y" "clinical category IIA" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000252398" "04214" "00334213" "00000" "Familial, autosomal recessive" "22y" "clinical category IIA" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000252399" "04214" "00334214" "00000" "Familial, autosomal recessive" "14y" "clinical category IIA" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000252400" "04214" "00334215" "00000" "Familial, autosomal recessive" "33y" "clinical category IIA" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000252401" "04214" "00334216" "00000" "Familial, autosomal recessive" "52y" "clinical category IIA" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000252402" "04214" "00334217" "00000" "Familial, autosomal recessive" "36y" "clinical category IIA" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000252403" "04214" "00334218" "00000" "Familial, autosomal recessive" "59y" "clinical category IIA" "" "" "" "" "" "" "" "" "" "Stargardt disease v pattern dystrophy" ""
"0000252404" "04214" "00334219" "00000" "Familial, autosomal recessive" "21y" "clinical category IIA" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000252405" "04214" "00334220" "00000" "Familial, autosomal recessive" "16y" "clinical category IIA" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000252406" "04214" "00334221" "00000" "Familial, autosomal recessive" "68y" "clinical category IIA" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000252407" "04214" "00334222" "00000" "Familial, autosomal recessive" "30y" "clinical category IIA" "" "" "" "" "" "" "" "" "" "Stardardt disease" ""
"0000252408" "04214" "00334223" "00000" "Familial, autosomal recessive" "76y" "clinical category IIA" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000252409" "04214" "00334224" "00000" "Familial, autosomal recessive" "62y" "clinical category IIA" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000252410" "04214" "00334225" "00000" "Familial, autosomal recessive" "88y" "clinical category IIA" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000252411" "04214" "00334226" "00000" "Familial, autosomal recessive" "59y" "clinical category IIA" "" "" "" "" "" "" "" "" "" "Stargardt disease v Nummular Choroidal Atrophy" ""
"0000252412" "04214" "00334227" "00000" "Familial, autosomal recessive" "75y" "clinical category IIA" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000252413" "04214" "00334228" "00000" "Familial, autosomal recessive" "32y" "clinical category IIA" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000252414" "04214" "00334229" "00000" "Familial, autosomal recessive" "37y" "clinical category IIA" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000252415" "04214" "00334230" "00000" "Familial, autosomal recessive" "10y" "clinical category IIA" "" "" "" "" "" "" "" "" "" "Stargardt disease v Isolated Progressive Photoreceptor disease" ""
"0000252416" "04214" "00334231" "00000" "Familial, autosomal recessive" "41y" "clinical category IIA" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000252417" "04214" "00334232" "00000" "Familial, autosomal recessive" "44y" "clinical category IIA" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000252418" "04214" "00334233" "00000" "Familial, autosomal recessive" "29y" "clinical category IIA" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000252419" "04214" "00334234" "00000" "Familial, autosomal recessive" "23y" "clinical category IIA" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000252420" "04214" "00334235" "00000" "Familial, autosomal recessive" "37y" "clinical category IIA" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000252421" "04214" "00334236" "00000" "Familial, autosomal recessive" "27y" "clinical category IIA" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000252422" "04214" "00334237" "00000" "Familial, autosomal recessive" "31y" "clinical category IIA" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000252423" "04214" "00334238" "00000" "Familial, autosomal recessive" "44y" "clinical category IIA" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000252424" "04214" "00334239" "00000" "Familial, autosomal recessive" "71y" "clinical category IIA" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000252425" "04214" "00334240" "00000" "Familial, autosomal recessive" "10y" "clinical category IIA" "" "" "" "" "" "" "" "" "" "Stargardt disease v Batten disease" ""
"0000252426" "04214" "00334241" "00000" "Familial, autosomal recessive" "39y" "clinical category IIA" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000252427" "04214" "00334242" "00000" "Familial, autosomal recessive" "65y" "clinical category IIA" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000252428" "04214" "00334243" "00000" "Familial, autosomal recessive" "36y" "clinical category IIA" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000252429" "04214" "00334244" "00000" "Familial, autosomal recessive" "11y" "clinical category IIA" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000252430" "04214" "00334245" "00000" "Familial, autosomal recessive" "15y" "clinical category IIA" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000252431" "04214" "00334246" "00000" "Familial, autosomal recessive" "27y" "clinical category IIA" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000252432" "04214" "00334247" "00000" "Familial, autosomal recessive" "70y" "clinical category IIA" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000252433" "04214" "00334248" "00000" "Familial, autosomal recessive" "21y" "clinical category IIA" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000252434" "04214" "00334249" "00000" "Familial, autosomal recessive" "34y" "clinical category IIA" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000252435" "04214" "00334250" "00000" "Familial, autosomal recessive" "52y" "clinical category IIA" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000252436" "04214" "00334251" "00000" "Familial, autosomal recessive" "61y" "clinical category IIA" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000252437" "04214" "00334252" "00000" "Familial, autosomal recessive" "29y" "clinical category IIA" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000252438" "04214" "00334253" "00000" "Familial, autosomal recessive" "16y" "clinical category IIA" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000252439" "04214" "00334254" "00000" "Familial, autosomal recessive" "43y" "clinical category IIA" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000252440" "04214" "00334255" "00000" "Familial, autosomal recessive" "38y" "clinical category IIA" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000252441" "04214" "00334256" "00000" "Familial, autosomal recessive" "42y" "clinical category IIA" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000252442" "04214" "00334257" "00000" "Familial, autosomal recessive" "44y" "clinical category IIA" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000252443" "04214" "00334258" "00000" "Familial, autosomal recessive" "43y" "clinical category IIA" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000252444" "04214" "00334259" "00000" "Familial, autosomal recessive" "20y" "clinical category IIA" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000252454" "04214" "00334269" "00000" "Familial, autosomal recessive" "50y" "clinical category IIC" "" "" "" "" "" "" "" "" "" "pattern dystrophy v Stargardt disease" ""
"0000252455" "04214" "00334270" "00000" "Familial, autosomal recessive" "73y" "clinical category IIC" "" "" "" "" "" "" "" "" "" "pattern dystrophy v Stargardt disease" ""
"0000252456" "04214" "00334271" "00000" "Familial, autosomal recessive" "38y" "clinical category IIC" "" "" "" "" "" "" "" "" "" "pattern dystrophy v Stargardt disease" ""
"0000252457" "04214" "00334272" "00000" "Familial, autosomal recessive" "49y" "clinical category IIC" "" "" "" "" "" "" "" "" "" "pattern dystrophy v Stargardt disease" ""
"0000252467" "00420" "00334328" "03971" "Familial, autosomal recessive" "" "" "07y" "13y" "" "" "" "" "" "" "" "" ""
"0000252468" "00420" "00334329" "03971" "Familial, autosomal recessive" "" "" "13y" "15y" "" "" "" "" "" "" "" "" ""
"0000252469" "00420" "00334330" "03971" "Familial, autosomal recessive" "" "" "10y" "13y" "" "" "" "" "" "" "" "" ""
"0000252470" "00420" "00334331" "03971" "Familial, autosomal recessive" "" "" "09y" "10y" "" "" "" "" "" "" "" "" ""
"0000252471" "00420" "00334332" "03971" "Familial, autosomal recessive" "" "" "08y" "10y" "" "" "" "" "" "" "" "" ""
"0000252472" "00420" "00334333" "03971" "Familial, autosomal recessive" "" "" "09y" "" "" "" "" "" "" "" "" "" ""
"0000252473" "00420" "00334334" "03971" "Familial, autosomal recessive" "" "" "21y" "24y" "" "" "" "" "" "" "" "" ""
"0000252474" "00420" "00333497" "03971" "Unknown" "" "" "07y" "" "" "" "" "" "" "" "" "" ""
"0000252475" "00420" "00334335" "03971" "Familial, autosomal recessive" "" "" "13y" "14y" "" "" "" "" "" "" "" "" ""
"0000252476" "00420" "00334336" "03971" "Familial, autosomal recessive" "" "" "16y" "19y" "" "" "" "" "" "" "" "" ""
"0000252477" "00420" "00334337" "03971" "Familial, autosomal recessive" "" "" "12y" "17y" "" "" "" "" "" "" "" "" ""
"0000252478" "00420" "00334338" "03971" "Familial, autosomal recessive" "" "" "13y" "14y" "" "" "" "" "" "" "" "" ""
"0000252479" "00420" "00334339" "03971" "Familial, autosomal recessive" "" "" "07y" "13y" "" "" "" "" "" "" "" "" ""
"0000252480" "00420" "00334340" "03971" "Familial, autosomal recessive" "" "" "24y" "24y" "" "" "" "" "" "" "" "" ""
"0000252481" "00420" "00334341" "03971" "Familial, autosomal recessive" "" "" "15y" "" "" "" "" "" "" "" "" "" ""
"0000252482" "00420" "00334342" "03971" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000252483" "00420" "00334372" "03971" "Familial, autosomal recessive" "" "" "14y" "16y" "" "" "" "" "" "" "" "" ""
"0000252484" "00420" "00334377" "03971" "Familial, autosomal recessive" "" "" "12y" "13y" "" "" "" "" "" "" "" "" ""
"0000252485" "00420" "00334379" "03971" "Familial, autosomal recessive" "" "" "16y" "21y" "" "" "" "" "" "" "" "" ""
"0000252486" "00420" "00334382" "03971" "Familial, autosomal recessive" "" "" "15y" "15y" "" "" "" "" "" "" "" "" ""
"0000252487" "00420" "00334383" "03971" "Familial, autosomal recessive" "" "" "36y" "" "" "" "" "" "" "" "" "" ""
"0000252490" "00420" "00334385" "03971" "Familial, autosomal recessive" "" "" "20y" "22y" "" "" "" "" "" "" "" "" ""
"0000252491" "00420" "00334386" "03971" "Familial, autosomal recessive" "" "" "17y" "" "" "" "" "" "" "" "" "" ""
"0000252492" "00420" "00334388" "03971" "Familial, autosomal recessive" "" "" "29y" "29y" "" "" "" "" "" "" "" "" ""
"0000252493" "00420" "00334389" "03971" "Familial, autosomal recessive" "" "" "19y" "19y" "" "" "" "" "" "" "" "" ""
"0000252494" "00420" "00334391" "03971" "Familial, autosomal recessive" "" "" "15y" "15y" "" "" "" "" "" "" "" "" ""
"0000252495" "00420" "00334392" "03971" "Familial, autosomal recessive" "" "" "13y" "" "" "" "" "" "" "" "" "" ""
"0000252496" "04214" "00334407" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000252497" "04214" "00334408" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000252498" "04214" "00334409" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000252552" "04214" "00334463" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000252565" "00420" "00334501" "03971" "Familial, autosomal recessive" "" "" "11y" "12y" "" "" "" "" "" "" "" "" ""
"0000252566" "00420" "00334502" "03971" "Familial, autosomal recessive" "" "" "12y" "15y" "" "" "" "" "" "" "" "" ""
"0000252567" "00420" "00334503" "03971" "Familial, autosomal recessive" "" "" "08y" "08y" "" "" "" "" "" "" "" "" ""
"0000252568" "00420" "00334504" "03971" "Familial, autosomal recessive" "" "" "09y" "" "" "" "" "" "" "" "" "" ""
"0000252569" "00420" "00334505" "03971" "Familial, autosomal recessive" "" "" "25y" "" "" "" "" "" "" "" "" "" ""
"0000252574" "00420" "00334512" "03971" "Familial, autosomal recessive" "" "" "15y" "15y" "" "" "" "" "" "" "" "" ""
"0000252575" "00420" "00334514" "03971" "Familial, autosomal recessive" "" "" "07y" "07y" "" "" "" "" "" "" "" "" ""
"0000252576" "00420" "00334515" "03971" "Familial, autosomal recessive" "" "" "10y" "" "" "" "" "" "" "" "" "" ""
"0000252577" "00420" "00334516" "03971" "Familial, autosomal recessive" "" "" "09y" "09y" "" "" "" "" "" "" "" "" ""
"0000252578" "00420" "00334517" "03971" "Familial, autosomal recessive" "" "" "17y" "" "" "" "" "" "" "" "" "" ""
"0000252579" "00420" "00334518" "03971" "Familial, autosomal recessive" "" "" "07y" "07y" "" "" "" "" "" "" "" "" ""
"0000252580" "00420" "00334519" "03971" "Familial, autosomal recessive" "" "" "15y" "" "" "" "" "" "" "" "" "" ""
"0000252586" "00420" "00334531" "03971" "Familial, autosomal recessive" "" "" "10y" "" "" "" "" "" "" "" "" "" ""
"0000252587" "00420" "00334532" "03971" "Familial, autosomal recessive" "" "" "09y" "09y" "" "" "" "" "" "" "" "" ""
"0000252588" "00420" "00334534" "03971" "Familial, autosomal recessive" "" "" "17y" "18y" "" "" "" "" "" "" "" "" ""
"0000252612" "04214" "00334572" "00000" "Familial, autosomal recessive" "22y" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinal dystrophy" ""
"0000252667" "00420" "00334881" "03971" "Familial, autosomal recessive" "" "" "12y" "14y" "" "" "" "" "" "" "" "" ""
"0000252668" "00420" "00334882" "03971" "Familial, autosomal recessive" "" "" "12y" "" "" "" "" "" "" "" "" "" ""
"0000252693" "00420" "00334945" "03971" "Familial, autosomal recessive" "" "" "24y" "" "" "" "" "" "" "" "" "" ""
"0000252694" "00420" "00334947" "03971" "Familial, autosomal recessive" "" "" "" "" "12y" "" "" "" "" "" "" "" ""
"0000252695" "00420" "00334949" "03971" "Familial, autosomal recessive" "" "" "05y" "" "" "" "" "" "" "" "" "" ""
"0000252698" "00420" "00334951" "03971" "Familial, autosomal recessive" "" "" "13y" "" "" "" "" "" "" "" "" "" ""
"0000252700" "00420" "00334953" "03971" "Familial, autosomal recessive" "" "" "16y" "17y" "" "" "" "" "" "" "" "" ""
"0000252702" "00420" "00334956" "03971" "Familial, autosomal recessive" "" "" "13y" "" "" "" "" "" "" "" "" "" ""
"0000252705" "00420" "00334958" "03971" "Familial, autosomal recessive" "" "" "08y" "" "" "" "" "" "" "" "" "" ""
"0000252706" "00420" "00334959" "03971" "Familial, autosomal recessive" "" "" "16y" "" "" "" "" "" "" "" "" "" ""
"0000252707" "00420" "00334960" "03971" "Familial, autosomal recessive" "" "" "09y" "11y" "" "" "" "" "" "" "" "" ""
"0000252708" "00420" "00334961" "03971" "Familial, autosomal recessive" "" "" "16y" "" "" "" "" "" "" "" "" "" ""
"0000252722" "00420" "00334975" "03971" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000252724" "00420" "00334977" "03971" "Familial, autosomal recessive" "" "" "15y" "" "" "" "" "" "" "" "" "" ""
"0000252726" "00420" "00334979" "03971" "Familial, autosomal recessive" "" "" "04y" "" "" "" "" "" "" "" "" "" ""
"0000252733" "00420" "00334985" "03971" "Familial, autosomal recessive" "" "" "04y" "" "" "" "" "" "" "" "" "" ""
"0000252786" "00198" "00335071" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000252787" "00198" "00335072" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy" ""
"0000252788" "00198" "00335073" "00000" "Unknown" "" "23y-diagnosis visual impairment" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000252789" "00198" "00335074" "00000" "Unknown" "" "16y-diagnosis visual impairment" "" "" "" "" "" "" "" "" "" "macular dystrophy" ""
"0000252790" "00198" "00335075" "00000" "Familial, autosomal recessive" "" "20y-diagnosis visual impairment" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000252791" "00198" "00335076" "00000" "Unknown" "" "22y-diagnosis visual impairment" "" "" "" "" "" "" "" "" "" "macular dystrophy" ""
"0000252792" "00198" "00335077" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000252793" "00198" "00335078" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000252794" "00198" "00335079" "00000" "Familial, autosomal recessive" "" "8y-diagnosis visual impairment" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000252957" "04214" "00335242" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000252961" "04214" "00335246" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000252962" "04214" "00335247" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000252963" "04214" "00335248" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000252965" "04214" "00335250" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000252972" "04214" "00335257" "02485" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000252973" "04214" "00335258" "02485" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000253040" "04214" "00335326" "02485" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000253041" "04214" "00335327" "02485" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000253042" "04214" "00335328" "02485" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000253043" "04214" "00335329" "02485" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000253044" "04214" "00335330" "02485" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000253348" "04214" "00335402" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000253368" "04214" "00335422" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000253372" "04214" "00335426" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000253379" "04214" "00335433" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000253382" "04214" "00335436" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000253388" "04214" "00335442" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000253393" "04214" "00335448" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" ""
"0000253396" "04214" "00335451" "00006" "Familial, autosomal recessive" "" "prominent hyperemic optic disc with tortuous peripapillary vessels" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000253398" "04214" "00335453" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinal degeneration" ""
"0000253399" "04214" "00335454" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinal degeneration" ""
"0000253407" "04214" "00335462" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000253408" "04214" "00335463" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000253409" "04214" "00335464" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000253410" "04214" "00335465" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000253411" "04214" "00335466" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000253412" "04214" "00335467" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000253413" "04214" "00335468" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000253414" "04214" "00335469" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000253415" "04214" "00335470" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000253416" "04214" "00335471" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000253417" "04214" "00335472" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000253418" "04214" "00335473" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000253662" "04214" "00335744" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinopathy" ""
"0000253663" "04214" "00335745" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinopathy" ""
"0000253664" "04214" "00335746" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinopathy" ""
"0000253665" "04214" "00335747" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinopathy" ""
"0000253666" "04214" "00335748" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinopathy" ""
"0000253667" "04214" "00335749" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "macular cystoid oedema" ""
"0000253669" "04214" "00335751" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinopathy" ""
"0000253670" "04214" "00335752" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinopathy" ""
"0000253671" "04214" "00335753" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinopathy" ""
"0000253672" "04214" "00335754" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinopathy" ""
"0000253673" "04214" "00335755" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinopathy" ""
"0000253674" "04214" "00335756" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinopathy" ""
"0000253675" "04214" "00335757" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinopathy" ""
"0000253676" "04214" "00335758" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinopathy" ""
"0000253677" "04214" "00335759" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinopathy" ""
"0000253678" "04214" "00335760" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinopathy" ""
"0000253679" "04214" "00335761" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinopathy" ""
"0000253680" "04214" "00335762" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinopathy" ""
"0000253681" "04214" "00335763" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinopathy" ""
"0000253682" "04214" "00335764" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinopathy" ""
"0000253683" "04214" "00335765" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinopathy" ""
"0000253684" "04214" "00335766" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinopathy" ""
"0000253685" "04214" "00335767" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinopathy" ""
"0000253686" "04214" "00335768" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinopathy" ""
"0000253687" "04214" "00335769" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinopathy" ""
"0000253688" "04214" "00335770" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinopathy" ""
"0000253689" "04214" "00335771" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinopathy" ""
"0000253690" "04214" "00335772" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinopathy" ""
"0000253691" "04214" "00335773" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinopathy" ""
"0000253692" "04214" "00335774" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinopathy" ""
"0000253693" "04214" "00335775" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinopathy" ""
"0000253694" "04214" "00335776" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinopathy" ""
"0000253695" "04214" "00335777" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinopathy" ""
"0000253696" "04214" "00335778" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinopathy" ""
"0000253697" "04214" "00335779" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinopathy" ""
"0000253698" "04214" "00335780" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinopathy" ""
"0000253709" "04214" "00335808" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy" ""
"0000253710" "04214" "00335809" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy" ""
"0000253711" "04214" "00335810" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy" ""
"0000253712" "04214" "00335811" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy" ""
"0000253713" "04214" "00335812" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy" ""
"0000253714" "04214" "00335813" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy" ""
"0000253715" "04214" "00335814" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy" ""
"0000253716" "04214" "00335815" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy" ""
"0000253717" "04214" "00335816" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy" ""
"0000253718" "04214" "00335817" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy" ""
"0000253719" "04214" "00335818" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy" ""
"0000253720" "04214" "00335819" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy" ""
"0000253721" "04214" "00335820" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy" ""
"0000253722" "04214" "00335821" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy" ""
"0000253723" "04214" "00335822" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy" ""
"0000253724" "04214" "00335823" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy" ""
"0000253725" "04214" "00335824" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy" ""
"0000253726" "04214" "00335825" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy" ""
"0000253727" "04214" "00335826" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy" ""
"0000253728" "04214" "00335827" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy" ""
"0000253729" "04214" "00335828" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy" ""
"0000253730" "04214" "00335829" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy" ""
"0000253731" "04214" "00335830" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy" ""
"0000253732" "04214" "00335831" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy" ""
"0000253733" "04214" "00335832" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy" ""
"0000253734" "04214" "00335833" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy" ""
"0000253735" "04214" "00335834" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy" ""
"0000253852" "04214" "00335951" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000253870" "04214" "00335955" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy" ""
"0000254001" "04214" "00358786" "00000" "Familial, autosomal recessive" "49y" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000254235" "04214" "00358937" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" ""
"0000254237" "04214" "00358938" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000254244" "04214" "00358946" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "cone dystrophy" ""
"0000254245" "04214" "00358947" "00000" "Familial" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000254246" "04214" "00358948" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "cone dystrophy" ""
"0000254247" "04214" "00358949" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinal dystrophy, DD: retinitis pigmentosa" ""
"0000254248" "04214" "00358950" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000254249" "04214" "00358951" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "macular dystrophy" ""
"0000254250" "04214" "00358952" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000254256" "04214" "00358958" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000254263" "04214" "00358965" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000254264" "04214" "00358966" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Leber Congenital Amaurosis" ""
"0000254275" "04214" "00358977" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000254279" "04214" "00358981" "00000" "Familial" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000254307" "04214" "00359010" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cone dystrophy" ""
"0000254331" "04214" "00359034" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000254333" "04214" "00359036" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000254335" "04214" "00359038" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000254336" "04214" "00359039" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000254440" "04214" "00359143" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa or rod-cone dystrophy" ""
"0000254441" "04214" "00359144" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa or rod-cone dystrophy" ""
"0000254494" "04214" "00359197" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa or rod-cone dystrophy" ""
"0000254518" "04214" "00359221" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease or macular dystrophy" ""
"0000254521" "04214" "00359224" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease or macular dystrophy" ""
"0000254522" "04214" "00359225" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease or macular dystrophy" ""
"0000254525" "04214" "00359228" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease or macular dystrophy" ""
"0000254528" "04214" "00359231" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease or macular dystrophy" ""
"0000254529" "04214" "00359232" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease or macular dystrophy" ""
"0000254530" "04214" "00359233" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease or macular dystrophy" ""
"0000254532" "04214" "00359235" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease or macular dystrophy" ""
"0000254536" "04214" "00359239" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease or macular dystrophy" ""
"0000254538" "04214" "00359241" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease or macular dystrophy" ""
"0000254539" "04214" "00359242" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease or macular dystrophy" ""
"0000254564" "04214" "00359267" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" ""
"0000254636" "04214" "00359365" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000254702" "00198" "00359460" "01807" "Unknown" "" "Cone/cone-rod dystrophy (HP:0000548)" "" "" "" "" "" "" "" "" "" "" ""
"0000254758" "04214" "00359505" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000254759" "04214" "00359506" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000254760" "04214" "00359507" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Stargardt\'s disease" ""
"0000254761" "04214" "00359508" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000254762" "04214" "00359509" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000254763" "04214" "00359510" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000254764" "04214" "00359511" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Stargardt\'s disease" ""
"0000254765" "04214" "00359512" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000254766" "04214" "00359513" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000254767" "04214" "00359514" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000254768" "04214" "00359515" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000254769" "04214" "00359516" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000254770" "04214" "00359517" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000254771" "04214" "00359518" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000254772" "04214" "00359519" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Stargardt\'s disease" ""
"0000254773" "04214" "00359520" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Stargardt\'s disease" ""
"0000254774" "04214" "00359521" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Stargardt\'s disease" ""
"0000254775" "04214" "00359522" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Stargardt\'s disease" ""
"0000254776" "04214" "00359523" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Stargardt\'s disease" ""
"0000254777" "04214" "00359524" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Stargardt\'s disease" ""
"0000254778" "04214" "00359525" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Stargardt\'s disease" ""
"0000254779" "04214" "00359526" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Stargardt\'s disease" ""
"0000256013" "04214" "00360608" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 0.2, OS = 0.3. Visual field: OD = paracentral scotoma 10°, sensitivity loss for I/1, and I/2, OS = central scotoma 40° extending temporally. Colour vision: marked protan and deutan defects in both eyes." "13y" "" "Mild visual acuity loss" "" "" "" "" "" "" "retinal dystrophy" ""
"0000256014" "04214" "00360609" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 1.0, OS = 1.2. Visual field: supmild constriction (I/3,I/2,I/1) in both eyes, and in OS a paracentral scotoma 5° was observed. Colour vision: normal in both eyes." "22y" "" "Photophobia in bright light and mild nyctalopia" "" "" "" "" "" "" "retinal dystrophy" ""
"0000257220" "05415" "00361827" "02404" "Familial, autosomal recessive" "" "Dual molecular genetic diagnosis with Stargardt syndrome." "" "" "" "" "" "" "" "" "Usher syndrome" "Usher syndrome" ""
"0000257489" "04214" "00362075" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000257490" "04214" "00362076" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000257491" "04214" "00362077" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000257492" "04214" "00362078" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000257493" "04214" "00362079" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000257494" "04214" "00362080" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000257572" "04214" "00362158" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000257573" "04214" "00362159" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000257576" "04214" "00362162" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000257578" "04214" "00362164" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000257598" "04214" "00362184" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000257619" "04214" "00362205" "04043" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000257620" "04214" "00362206" "04043" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000257621" "04214" "00362207" "04043" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000257622" "04214" "00362208" "04043" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000257656" "04214" "00362242" "04043" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "macular dystrophy" ""
"0000258285" "04214" "00362919" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "macular dystrophy" ""
"0000258293" "04214" "00362927" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000258301" "04214" "00362935" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "cone dystrophy" ""
"0000258302" "04214" "00362936" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "cone dystrophy" ""
"0000258929" "04214" "00363579" "00000" "Isolated (sporadic)" "" "non-syndromic" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, cone-rod dystrophy" ""
"0000258930" "04214" "00363580" "00000" "Isolated (sporadic)" "" "non-syndromic" "" "" "" "" "" "" "" "" "" "cone rod dystrophy" ""
"0000258932" "04214" "00363582" "00000" "Familial" "" "non-syndromic" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, cone-rod dystrophy" ""
"0000258938" "04214" "00363588" "00000" "Familial" "" "non-syndromic" "" "" "" "" "" "" "" "" "" "cone rod dystrophy" ""
"0000258976" "04214" "00363626" "00000" "Familial" "" "non-syndromic" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, cone-rod dystrophy" ""
"0000258996" "04214" "00363646" "00000" "Familial" "" "non-syndromic" "" "" "" "" "" "" "" "" "" "cone rod dystrophy" ""
"0000259006" "04214" "00363656" "00000" "Isolated (sporadic)" "" "non-syndromic" "" "" "" "" "" "" "" "" "" "cone rod dystrophy" ""
"0000259018" "04214" "00363668" "00000" "Isolated (sporadic)" "" "non-syndromic" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, cone-rod dystrophy" ""
"0000259057" "04214" "00363707" "00000" "Isolated (sporadic)" "" "non-syndromic" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000259075" "04214" "00363725" "00000" "Isolated (sporadic)" "" "non-syndromic" "" "" "" "" "" "" "" "" "" "macular dystrophy" ""
"0000259077" "04214" "00363727" "00000" "Familial" "" "non-syndromic" "" "" "" "" "" "" "" "" "" "retinal dystrophy, unspecfied" ""
"0000259092" "04214" "00363742" "00000" "Isolated (sporadic)" "" "non-syndromic" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, cone-rod dystrophy" ""
"0000259099" "04214" "00363749" "00000" "Familial" "" "non-syndromic" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000259235" "04214" "00363897" "01695" "Familial, autosomal recessive" "" "At the age of 10 the fundus of the patient showed atrophic-appearing ‘‘beaten-bronze’’ foveal appearance and/or parafoveal or perifoveal yellow-whitish flecks. At that time the Best corrected visual acuity was 0.2 OD and 0.1 OS." "10y" "" "visual effects noted for the first time" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259236" "04214" "00363898" "01695" "Familial, autosomal recessive" "" "At the age of 14 the fundus of the patient showed resorption of the flecks and extensive atrophy of the choriocapillaris in the macula. At that time the Best corrected visual acuity was 0.1 OD and 0.1 OS." "<12y" "" "visual effects noted for the first time" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259237" "04214" "00363899" "01695" "Familial, autosomal recessive" "" "At the age of 28 the fundus of the patient showed atrophic-appearing ‘‘beaten-bronze’’ foveal appearance and/or parafoveal or perifoveal yellow-whitish flecks. At that time the Best corrected visual acuity was 0.1 OD and 0.1 OS." "10y" "" "visual effects noted for the first time" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259238" "04214" "00363900" "01695" "Familial, autosomal recessive" "" "At the age of 28 the fundus of the patient showed resorption of the flecks and extensive atrophy of the choriocapillaris in the macula. At that time the Best corrected visual acuity was 0.05 OD and 0.01 OS." "18y" "" "visual effects noted for the first time" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259239" "04214" "00363901" "01695" "Familial, autosomal recessive" "" "At the age of 37 the fundus of the patient showed numerous yellow-whitish flecks throughout the posterior pole. At that time the Best corrected visual acuity was 0.04 OD and 0.1 OS." "20y" "" "visual effects noted for the first time" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259240" "04214" "00363902" "01695" "Familial, autosomal recessive" "" "At the age of 21 the fundus of the patient showed numerous yellow-whitish flecks throughout the posterior pole. At that time the Best corrected visual acuity was 0.04 OD and 0.03 OS." "13y" "" "visual effects noted for the first time" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259241" "04214" "00363903" "01695" "Familial, autosomal recessive" "" "At the age of 12 the fundus of the patient showed atrophic-appearing ‘‘beaten-bronze’’ foveal appearance and/or parafoveal or perifoveal yellow-whitish flecks. At that time the Best corrected visual acuity was 0.02 OD and 0.05 OS." "10y" "" "visual effects noted for the first time" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259242" "04214" "00363904" "01695" "Familial, autosomal recessive" "" "At the age of 10 the fundus of the patient showed numerous yellow-whitish flecks throughout the posterior pole. At that time the Best corrected visual acuity was 0.05 OD and 0.2 OS." "9y" "" "visual effects noted for the first time" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259243" "04214" "00363905" "01695" "Familial, autosomal recessive" "" "At the age of 15 the fundus of the patient showed atrophic-appearing ‘‘beaten-bronze’’ foveal appearance and/or parafoveal or perifoveal yellow-whitish flecks. At that time the Best corrected visual acuity was 0.2 OD and 0.2 OS." "14y" "" "visual effects noted for the first time" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259244" "04214" "00363906" "01695" "Familial, autosomal recessive" "" "At the age of 9 the fundus of the patient showed atrophic-appearing ‘‘beaten-bronze’’ foveal appearance and/or parafoveal or perifoveal yellow-whitish flecks. At that time the Best corrected visual acuity was 0.2 OD and 0.1 OS." "9y" "" "visual effects noted for the first time" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259245" "04214" "00363907" "01695" "Familial, autosomal recessive" "" "At the age of 21 the fundus of the patient showed atrophic-appearing ‘‘beaten-bronze’’ foveal appearance and/or parafoveal or perifoveal yellow-whitish flecks. At that time the Best corrected visual acuity was 0.2 OD and 0.2 OS." "11y" "" "visual effects noted for the first time" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259246" "04214" "00363908" "01695" "Familial, autosomal recessive" "" "At the age of 16 the fundus of the patient showed resorption of the flecks and extensive atrophy of the choriocapillaris in the macula. At that time the Best corrected visual acuity was FC OD and FC OS." "11y" "" "visual effects noted for the first time" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259247" "04214" "00363909" "01695" "Familial, autosomal recessive" "" "At the age of 8 the fundus of the patient showed atrophic-appearing ‘‘beaten-bronze’’ foveal appearance and/or parafoveal or perifoveal yellow-whitish flecks. At that time the Best corrected visual acuity was 0.1 OD and 0.1 OS." "8y" "" "visual effects noted for the first time" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259248" "04214" "00363910" "01695" "Familial, autosomal recessive" "" "At the age of 35 the fundus of the patient showed resorption of the flecks and extensive atrophy of the choriocapillaris in the macula. At that time the Best corrected visual acuity was 0.03 OD and 0.03 OS." "32y" "" "visual effects noted for the first time" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259249" "04214" "00363911" "01695" "Familial, autosomal recessive" "" "At the age of 31 the fundus of the patient showed numerous yellow-whitish flecks throughout the posterior pole. At that time the Best corrected visual acuity was 0.05 OD and 0.05 OS." "28y" "" "visual effects noted for the first time" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259250" "04214" "00363912" "01695" "Familial, autosomal recessive" "" "At the age of 15 the fundus of the patient showed atrophic-appearing ‘‘beaten-bronze’’ foveal appearance and/or parafoveal or perifoveal yellow-whitish flecks. At that time the Best corrected visual acuity was 0.3 OD and 0.4 OS." "13y" "" "visual effects noted for the first time" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259251" "04214" "00363913" "01695" "Familial, autosomal recessive" "" "At the age of 12 the fundus of the patient showed atrophic-appearing ‘‘beaten-bronze’’ foveal appearance and/or parafoveal or perifoveal yellow-whitish flecks. At that time the Best corrected visual acuity was 0.2 OD and 0.1 OS." "10y" "" "visual effects noted for the first time" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259252" "04214" "00363914" "01695" "Familial, autosomal recessive" "" "At the age of 12 the fundus of the patient showed atrophic-appearing ‘‘beaten-bronze’’ foveal appearance and/or parafoveal or perifoveal yellow-whitish flecks. At that time the Best corrected visual acuity was 0.1 OD and 0.1 OS." "10y" "" "visual effects noted for the first time" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259253" "04214" "00363915" "01695" "Familial, autosomal recessive" "" "At the age of 33 the fundus of the patient showed numerous yellow-whitish flecks throughout the posterior pole. At that time the Best corrected visual acuity was 0.02 OD and 0.02 OS." "23y" "" "visual effects noted for the first time" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259254" "04214" "00363916" "01695" "Familial, autosomal recessive" "" "At the age of 17 the fundus of the patient showed numerous yellow-whitish flecks throughout the posterior pole. At that time the Best corrected visual acuity was 0.04 OD and 0.04 OS." "16y" "" "visual effects noted for the first time" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259255" "04214" "00363917" "01695" "Familial, autosomal recessive" "" "At the age of 36 the fundus of the patient showed atrophic-appearing ‘‘beaten-bronze’’ foveal appearance and/or parafoveal or perifoveal yellow-whitish flecks. At that time the Best corrected visual acuity was 0.1 OD and 0.1 OS." "<12y" "" "visual effects noted for the first time" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259256" "04214" "00363918" "01695" "Familial, autosomal recessive" "" "At the age of 9 the fundus of the patient showed atrophic-appearing ‘‘beaten-bronze’’ foveal appearance and/or parafoveal or perifoveal yellow-whitish flecks. At that time the Best corrected visual acuity was 0.2 OD and 0.1 OS." "9y" "" "visual effects noted for the first time" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259257" "04214" "00363919" "01695" "Familial, autosomal recessive" "" "At the age of 26 the fundus of the patient showed numerous yellow-whitish flecks throughout the posterior pole. At that time the Best corrected visual acuity was 0.3 OD and 0.2 OS." "13y" "" "visual effects noted for the first time" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259258" "04214" "00363920" "01695" "Familial, autosomal recessive" "" "At the age of 28 the fundus of the patient showed numerous yellow-whitish flecks throughout the posterior pole-resorption of the flecks and extensive atrophy of the choriocapillaris in the macula. At that time the Best corrected visual acuity was 0.1 OD and 0.1 OS." "<12y" "" "visual effects noted for the first time" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259259" "04214" "00363921" "01695" "Familial, autosomal recessive" "" "At the age of 10 the fundus of the patient showed atrophic-appearing ‘‘beaten-bronze’’ foveal appearance and/or parafoveal or perifoveal yellow-whitish flecks. At that time the Best corrected visual acuity was 0.2 OD and 0.2 OS." "10y" "" "visual effects noted for the first time" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259260" "04214" "00363922" "01695" "Familial, autosomal recessive" "" "At the age of 7 the fundus of the patient showed atrophic-appearing ‘‘beaten-bronze’’ foveal appearance and/or parafoveal or perifoveal yellow-whitish flecks. At that time the Best corrected visual acuity was 0.1 OD and 0.1 OS." "7y" "" "visual effects noted for the first time" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259261" "04214" "00363923" "01695" "Familial, autosomal recessive" "" "At the age of 11 the fundus of the patient showed numerous yellow-whitish flecks throughout the posterior pole. At that time the Best corrected visual acuity was 0.05 OD and 0.1 OS." "6y" "" "visual effects noted for the first time" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259262" "04214" "00363924" "01695" "Familial, autosomal recessive" "" "At the age of 11 the fundus of the patient showed numerous yellow-whitish flecks throughout the posterior pole. At that time the Best corrected visual acuity was 0.01 OD and 0.05 OS." "<12y" "" "visual effects noted for the first time" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259263" "04214" "00363925" "01695" "Familial, autosomal recessive" "" "At the age of 11 the fundus of the patient showed numerous yellow-whitish flecks throughout the posterior pole. At that time the Best corrected visual acuity was 0.08 OD and 0.1 OS." "10y" "" "visual effects noted for the first time" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259264" "04214" "00363926" "01695" "Familial, autosomal recessive" "" "At the age of 32 the fundus of the patient showed numerous yellow-whitish flecks throughout the posterior pole. At that time the Best corrected visual acuity was 0.06 OD and 0.06 OS." "2y" "" "visual effects noted for the first time" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259265" "04214" "00363927" "01695" "Familial, autosomal recessive" "" "At the age of 37 the fundus of the patient showed atrophic-appearing ‘‘beaten-bronze’’ foveal appearance and/or parafoveal or perifoveal yellow-whitish flecks. At that time the Best corrected visual acuity was 0.1 OD and 0.2 OS." "27y" "" "visual effects noted for the first time" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259266" "04214" "00363928" "01695" "Familial, autosomal recessive" "" "At the age of 17 the fundus of the patient showed numerous yellow-whitish flecks throughout the posterior pole. At that time the Best corrected visual acuity was 0.5 OD and 0.3 OS." "12y" "" "visual effects noted for the first time" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259267" "04214" "00363929" "01695" "Familial, autosomal recessive" "" "At the age of 12 the fundus of the patient showed atrophic-appearing ‘‘beaten-bronze’’ foveal appearance and/or parafoveal or perifoveal yellow-whitish flecks. At that time the Best corrected visual acuity was 0.1 OD and 0.1 OS." "9y" "" "visual effects noted for the first time" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259268" "04214" "00363930" "01695" "Familial, autosomal recessive" "" "At the age of 32 the fundus of the patient showed numerous yellow-whitish flecks throughout the posterior pole. At that time the Best corrected visual acuity was 0.1 OD and 0.1 OS." "31y" "" "visual effects noted for the first time" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259269" "04214" "00363931" "01695" "Familial, autosomal recessive" "" "At the age of 24 the fundus of the patient showed resorption of the flecks and extensive atrophy of the choriocapillaris in the macula. At that time the Best corrected visual acuity was 0.06 OD and 0.06 OS." "<12y" "" "visual effects noted for the first time" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259270" "04214" "00363932" "01695" "Familial, autosomal recessive" "" "At the age of 22 the fundus of the patient showed atrophic-appearing ‘‘beaten-bronze’’ foveal appearance and/or parafoveal or perifoveal yellow-whitish flecks. At that time the Best corrected visual acuity was 0.1 OD and 0.1 OS." "19y" "" "visual effects noted for the first time" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259271" "04214" "00363933" "01695" "Familial, autosomal recessive" "" "At the age of 8 the fundus of the patient showed atrophic-appearing ‘‘beaten-bronze’’ foveal appearance and/or parafoveal or perifoveal yellow-whitish flecks. At that time the Best corrected visual acuity was 0.2 OD and 0.1 OS." "7y" "" "visual effects noted for the first time" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259272" "04214" "00363934" "01695" "Familial, autosomal recessive" "" "At the age of 30 the fundus of the patient showed resorption of the flecks and extensive atrophy of the choriocapillaris in the macula. At that time the Best corrected visual acuity was 0.1 OD and 0.1 OS." "13y" "" "visual effects noted for the first time" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259273" "04214" "00363935" "01695" "Familial, autosomal recessive" "" "At the age of 34 the fundus of the patient showed numerous yellow-whitish flecks throughout the posterior pole. At that time the Best corrected visual acuity was 0.1 OD and 0.05 OS." "23y" "" "visual effects noted for the first time" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259274" "04214" "00363936" "01695" "Familial, autosomal recessive" "" "At the age of 23 the fundus of the patient showed numerous yellow-whitish flecks throughout the posterior pole-resorption of the flecks and extensive atrophy of the choriocapillaris in the macula. At that time the Best corrected visual acuity was 0.08 OD and 0.05 OS." "8y" "" "visual effects noted for the first time" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259275" "04214" "00363937" "01695" "Familial, autosomal recessive" "" "At the age of 24 the fundus of the patient showed atrophic-appearing ‘‘beaten-bronze’’ foveal appearance and/or parafoveal or perifoveal yellow-whitish flecks. At that time the Best corrected visual acuity was 0.1 OD and 0.1 OS." "11y" "" "visual effects noted for the first time" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259276" "04214" "00363938" "01695" "Familial, autosomal recessive" "" "At the age of 11 the fundus of the patient showed atrophic-appearing ‘‘beaten-bronze’’ foveal appearance and/or parafoveal or perifoveal yellow-whitish flecks. At that time the Best corrected visual acuity was 0.3 OD and 0.3 OS." "9y" "" "visual effects noted for the first time" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259277" "04214" "00363939" "01695" "Familial, autosomal recessive" "" "At the age of 13 the fundus of the patient showed atrophic-appearing ‘‘beaten-bronze’’ foveal appearance and/or parafoveal or perifoveal yellow-whitish flecks. At that time the Best corrected visual acuity was 0.5 OD and 0.4 OS." "11y" "" "visual effects noted for the first time" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259278" "04214" "00363940" "01695" "Familial, autosomal recessive" "" "At the age of 29 the fundus of the patient showed resorption of the flecks and extensive atrophy of the choriocapillaris in the macula. At that time the Best corrected visual acuity was 0.02 OD and 0.02 OS." "12y" "" "visual effects noted for the first time" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259279" "04214" "00363941" "01695" "Familial, autosomal recessive" "" "At the age of 28 the fundus of the patient showed atrophic-appearing ‘‘beaten-bronze’’ foveal appearance and/or parafoveal or perifoveal yellow-whitish flecks. At that time the Best corrected visual acuity was 0.1 OD and 0.2 OS." "24y" "" "visual effects noted for the first time" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259280" "04214" "00363942" "01695" "Familial, autosomal recessive" "" "At the age of 13 the fundus of the patient showed atrophic-appearing ‘‘beaten-bronze’’ foveal appearance and/or parafoveal or perifoveal yellow-whitish flecks. At that time the Best corrected visual acuity was 0.2 OD and 0.1 OS." "9y" "" "visual effects noted for the first time" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259281" "04214" "00363943" "01695" "Familial, autosomal recessive" "" "At the age of 10 the fundus of the patient showed numerous yellow-whitish flecks throughout the posterior pole-resorption of the flecks and extensive atrophy of the choriocapillaris in the macula. At that time the Best corrected visual acuity was 0.07 OD and 0.1 OS." "9y" "" "visual effects noted for the first time" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259282" "04214" "00363944" "01695" "Familial, autosomal recessive" "" "At the age of 9 the fundus of the patient showed atrophic-appearing ‘‘beaten-bronze’’ foveal appearance and/or parafoveal or perifoveal yellow-whitish flecks. At that time the Best corrected visual acuity was 0.2 OD and 0.2 OS." "<12y" "" "visual effects noted for the first time" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259283" "04214" "00363945" "01695" "Familial, autosomal recessive" "" "At the age of 16 the fundus of the patient showed numerous yellow-whitish flecks throughout the posterior pole-resorption of the flecks and extensive atrophy of the choriocapillaris in the macula. At that time the Best corrected visual acuity was 0.1 OD and 0.1 OS." "11y" "" "visual effects noted for the first time" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259284" "04214" "00363946" "01695" "Familial, autosomal recessive" "" "At the age of 51 the fundus of the patient showed numerous yellow-whitish flecks throughout the posterior pole. At that time the Best corrected visual acuity was 0.2 OD and 0.3 OS." "41y" "" "visual effects noted for the first time" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259285" "04214" "00363947" "01695" "Familial, autosomal recessive" "" "At the age of 27 the fundus of the patient showed atrophic-appearing ‘‘beaten-bronze’’ foveal appearance and/or parafoveal or perifoveal yellow-whitish flecks. At that time the Best corrected visual acuity was 0.08 OD and 0.1 OS." "12y" "" "visual effects noted for the first time" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259286" "04214" "00363948" "01695" "Familial, autosomal recessive" "" "At the age of 19 the fundus of the patient showed resorption of the flecks and extensive atrophy of the choriocapillaris in the macula. At that time the Best corrected visual acuity was 0.1 OD and 0.1 OS." "9y" "" "visual effects noted for the first time" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259287" "04214" "00363949" "01695" "Familial, autosomal recessive" "" "At the age of 8 the fundus of the patient showed atrophic-appearing ‘‘beaten-bronze’’ foveal appearance and/or parafoveal or perifoveal yellow-whitish flecks. At that time the Best corrected visual acuity was 0.2 OD and 0.2 OS." "8y" "" "visual effects noted for the first time" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259288" "04214" "00363950" "01695" "Familial, autosomal recessive" "" "At the age of 8 the fundus of the patient showed numerous yellow-whitish flecks throughout the posterior pole. At that time the Best corrected visual acuity was 0.07 OD and 0.1 OS." "7y" "" "visual effects noted for the first time" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259289" "04214" "00363951" "01695" "Familial, autosomal recessive" "" "At the age of 13 the fundus of the patient showed numerous yellow-whitish flecks throughout the posterior pole. At that time the Best corrected visual acuity was 0.1 OD and 0.1 OS." "8y" "" "visual effects noted for the first time" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259290" "04214" "00363952" "01695" "Familial, autosomal recessive" "" "At the age of 53 the fundus of the patient showed resorption of the flecks and extensive atrophy of the choriocapillaris in the macula. At that time the Best corrected visual acuity was 0.01 OD and 0.05 OS." "30y" "" "visual effects noted for the first time" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259291" "04214" "00363953" "01695" "Familial, autosomal recessive" "" "At the age of 27 the fundus of the patient showed numerous yellow-whitish flecks throughout the posterior pole. At that time the Best corrected visual acuity was 0.1 OD and 0.2 OS." "14y" "" "visual effects noted for the first time" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259292" "04214" "00363954" "01695" "Familial, autosomal recessive" "" "At the age of 46 the fundus of the patient showed resorption of the flecks and extensive atrophy of the choriocapillaris in the macula. At that time the Best corrected visual acuity was 0.02 OD and 0.03 OS." "20y" "" "visual effects noted for the first time" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259293" "04214" "00363955" "01695" "Familial, autosomal recessive" "" "At the age of 13 the fundus of the patient showed numerous yellow-whitish flecks throughout the posterior pole. At that time the Best corrected visual acuity was 0.05 OD and 0.07 OS." "13y" "" "visual effects noted for the first time" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259294" "04214" "00363956" "01695" "Familial, autosomal recessive" "" "At the age of 26 the fundus of the patient showed resorption of the flecks and extensive atrophy of the choriocapillaris in the macula. At that time the Best corrected visual acuity was 0.02 OD and 0.02 OS." "8y" "" "visual effects noted for the first time" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259295" "04214" "00363957" "01695" "Familial, autosomal recessive" "" "At the age of 21 the fundus of the patient showed resorption of the flecks and extensive atrophy of the choriocapillaris in the macula. At that time the Best corrected visual acuity was 0.1 OD and 0.1 OS." "<12y" "" "visual effects noted for the first time" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259296" "04214" "00363958" "01695" "Familial, autosomal recessive" "" "At the age of 24 the fundus of the patient showed numerous yellow-whitish flecks throughout the posterior pole. At that time the Best corrected visual acuity was 0.07 OD and 0.07 OS." "16y" "" "visual effects noted for the first time" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259297" "04214" "00363959" "01695" "Familial, autosomal recessive" "" "At the age of 18 the fundus of the patient showed atrophic-appearing ‘‘beaten-bronze’’ foveal appearance and/or parafoveal or perifoveal yellow-whitish flecks. At that time the Best corrected visual acuity was 0.2 OD and 0.2 OS." "15y" "" "visual effects noted for the first time" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259298" "04214" "00363960" "01695" "Familial, autosomal recessive" "" "At the age of 31 the fundus of the patient showed atrophic-appearing ‘‘beaten-bronze’’ foveal appearance and/or parafoveal or perifoveal yellow-whitish flecks. At that time the Best corrected visual acuity was 0.07 OD and 0.05 OS." "26y" "" "visual effects noted for the first time" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259299" "04214" "00363961" "01695" "Familial, autosomal recessive" "" "At the age of 19 the fundus of the patient showed atrophic-appearing ‘‘beaten-bronze’’ foveal appearance and/or parafoveal or perifoveal yellow-whitish flecks. At that time the Best corrected visual acuity was 0.1 OD and 0.1 OS." "15y" "" "visual effects noted for the first time" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259300" "04214" "00363962" "01695" "Familial, autosomal recessive" "" "At the age of 28 the fundus of the patient showed numerous yellow-whitish flecks throughout the posterior pole-resorption of the flecks and extensive atrophy of the choriocapillaris in the macula. At that time the Best corrected visual acuity was 0.06 OD and 0.05 OS." "18y" "" "visual effects noted for the first time" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259301" "04214" "00363963" "01695" "Familial, autosomal recessive" "" "At the age of 15 the fundus of the patient showed atrophic-appearing ‘‘beaten-bronze’’ foveal appearance and/or parafoveal or perifoveal yellow-whitish flecks. At that time the Best corrected visual acuity was 0.1 OD and 0.1 OS." "11y" "" "visual effects noted for the first time" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259302" "04214" "00363964" "01695" "Familial, autosomal recessive" "" "At the age of 54 the fundus of the patient showed numerous yellow-whitish flecks throughout the posterior pole. At that time the Best corrected visual acuity was 0.08 OD and 0.06 OS." "44y" "" "visual effects noted for the first time" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259303" "04214" "00363965" "01695" "Familial, autosomal recessive" "" "At the age of 19 the fundus of the patient showed resorption of the flecks and extensive atrophy of the choriocapillaris in the macula. At that time the Best corrected visual acuity was 0.04 OD and 0.04 OS." "9y" "" "visual effects noted for the first time" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259304" "04214" "00363966" "01695" "Familial, autosomal recessive" "" "At the age of 11 the fundus of the patient showed atrophic-appearing ‘‘beaten-bronze’’ foveal appearance and/or parafoveal or perifoveal yellow-whitish flecks-numerous yellow-whitish flecks throughout the posterior pole. At that time the Best corrected visual acuity was 0.1 OD and 0.2 OS." "11y" "" "visual effects noted for the first time" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259305" "04214" "00363967" "01695" "Familial, autosomal recessive" "" "At the age of 22 the fundus of the patient showed atrophic-appearing ‘‘beaten-bronze’’ foveal appearance and/or parafoveal or perifoveal yellow-whitish flecks. At that time the Best corrected visual acuity was 0.3 OD and 0.2 OS." "14y" "" "visual effects noted for the first time" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259306" "04214" "00363968" "01695" "Familial, autosomal recessive" "" "At the age of 9 the fundus of the patient showed atrophic-appearing ‘‘beaten-bronze’’ foveal appearance and/or parafoveal or perifoveal yellow-whitish flecks. At that time the Best corrected visual acuity was 0.5 OD and 0.4 OS." "<12y" "" "visual effects noted for the first time" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259307" "04214" "00363969" "01695" "Familial, autosomal recessive" "" "At the age of 10 the fundus of the patient showed atrophic-appearing ‘‘beaten-bronze’’ foveal appearance and/or parafoveal or perifoveal yellow-whitish flecks. At that time the Best corrected visual acuity was 0.2 OD and 0.1 OS." "9y" "" "visual effects noted for the first time" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259308" "04214" "00363970" "01695" "Familial, autosomal recessive" "" "At the age of 43 the fundus of the patient showed numerous yellow-whitish flecks throughout the posterior pole. At that time the Best corrected visual acuity was 0.3 OD and 0.5 OS." "43y" "" "visual effects noted for the first time" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259309" "04214" "00363971" "01695" "Familial, autosomal recessive" "" "At the age of 8 the fundus of the patient showed atrophic-appearing ‘‘beaten-bronze’’ foveal appearance and/or parafoveal or perifoveal yellow-whitish flecks. At that time the Best corrected visual acuity was 0.1 OD and 0.1 OS." "7y" "" "visual effects noted for the first time" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259310" "04214" "00363972" "01695" "Familial, autosomal recessive" "" "At the age of 23 the fundus of the patient showed numerous yellow-whitish flecks throughout the posterior pole. At that time the Best corrected visual acuity was 0.2 OD and 0.4 OS." "23y" "" "visual effects noted for the first time" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259311" "04214" "00363973" "01695" "Familial, autosomal recessive" "" "At the age of 16 the fundus of the patient showed numerous yellow-whitish flecks throughout the posterior pole-resorption of the flecks and extensive atrophy of the choriocapillaris in the macula. At that time the Best corrected visual acuity was 0.2 OD and 0.2 OS." "15y" "" "visual effects noted for the first time" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259312" "04214" "00363974" "01695" "Familial, autosomal recessive" "" "At the age of 38 the fundus of the patient showed resorption of the flecks and extensive atrophy of the choriocapillaris in the macula-extensive chorioretinal atrophy over the entire fundus. At that time the Best corrected visual acuity was 0.1 OD and 0.1 OS." "<12y" "" "visual effects noted for the first time" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259313" "04214" "00363975" "01695" "Familial, autosomal recessive" "" "At the age of 20 the fundus of the patient showed resorption of the flecks and extensive atrophy of the choriocapillaris in the macula. At that time the Best corrected visual acuity was 0.05 OD and 0.05 OS." "<12y" "" "visual effects noted for the first time" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259314" "04214" "00363976" "01695" "Familial, autosomal recessive" "" "At the age of 50 the fundus of the patient showed extensive chorioretinal atrophy over the entire fundus. At that time the Best corrected visual acuity was 0.03 OD and 0.03 OS." "12y" "" "visual effects noted for the first time" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259315" "04214" "00363977" "01695" "Familial, autosomal recessive" "" "At the age of 41 the fundus of the patient showed extensive chorioretinal atrophy over the entire fundus. At that time the Best corrected visual acuity was LP OD and LP OS." "6y" "" "visual effects noted for the first time" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259316" "04214" "00363978" "01695" "Familial, autosomal recessive" "" "At the age of 49 the fundus of the patient showed extensive chorioretinal atrophy over the entire fundus. At that time the Best corrected visual acuity was FC OD and FC OS." "8y" "" "visual effects noted for the first time" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259317" "04214" "00363979" "01695" "Familial, autosomal recessive" "" "At the age of 10 the fundus of the patient showed resorption of the flecks and extensive atrophy of the choriocapillaris in the macula. At that time the Best corrected visual acuity was 0.1 OD and 0.1 OS." "10y" "" "visual effects noted for the first time" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259318" "04214" "00363980" "01695" "Familial, autosomal recessive" "" "At the age of 10 the fundus of the patient showed resorption of the flecks and extensive atrophy of the choriocapillaris in the macula. At that time the Best corrected visual acuity was 0.1 OD and 0.1 OS." "10y" "" "visual effects noted for the first time" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259319" "04214" "00363981" "01695" "Familial, autosomal recessive" "" "At the age of 9 the fundus of the patient showed atrophic-appearing ‘‘beaten-bronze’’ foveal appearance and/or parafoveal or perifoveal yellow-whitish flecks. At that time the Best corrected visual acuity was 0.1 OD and 0.1 OS." "8y" "" "visual effects noted for the first time" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259320" "04214" "00363982" "01695" "Familial, autosomal recessive" "" "At the age of 10 the fundus of the patient showed atrophic-appearing ‘‘beaten-bronze’’ foveal appearance and/or parafoveal or perifoveal yellow-whitish flecks. At that time the Best corrected visual acuity was 0.1 OD and 0.1 OS." "10y" "" "visual effects noted for the first time" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259321" "04214" "00363983" "01695" "Familial, autosomal recessive" "" "At the age of 12 the fundus of the patient showed resorption of the flecks and extensive atrophy of the choriocapillaris in the macula. At that time the Best corrected visual acuity was 0.1 OD and 0.2 OS." "12y" "" "visual effects noted for the first time" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259322" "04214" "00363984" "01695" "Familial, autosomal recessive" "" "At the age of 30 the fundus of the patient showed numerous yellow-whitish flecks throughout the posterior pole. At that time the Best corrected visual acuity was 0.02 OD and 0.04 OS." "12y" "" "visual effects noted for the first time" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259323" "04214" "00363985" "01695" "Familial, autosomal recessive" "" "At the age of 9 the fundus of the patient showed atrophic-appearing ‘‘beaten-bronze’’ foveal appearance and/or parafoveal or perifoveal yellow-whitish flecks. At that time the Best corrected visual acuity was 0.1 OD and 0.1 OS." "" "" "visual effects noted for the first time" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259324" "04214" "00363986" "01695" "Familial, autosomal recessive" "" "At the age of 11 the fundus of the patient showed atrophic-appearing ‘‘beaten-bronze’’ foveal appearance and/or parafoveal or perifoveal yellow-whitish flecks. At that time the Best corrected visual acuity was 0.2 OD and 0.2 OS." "10y" "" "visual effects noted for the first time" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259325" "04214" "00363987" "01695" "Familial, autosomal recessive" "" "At the age of 9 the fundus of the patient showed atrophic-appearing ‘‘beaten-bronze’’ foveal appearance and/or parafoveal or perifoveal yellow-whitish flecks. At that time the Best corrected visual acuity was 0.05 OD and 0.05 OS." "5y" "" "visual effects noted for the first time" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259326" "04214" "00363988" "01695" "Familial, autosomal recessive" "" "At the age of 6 the fundus of the patient showed atrophic-appearing ‘‘beaten-bronze’’ foveal appearance and/or parafoveal or perifoveal yellow-whitish flecks. At that time the Best corrected visual acuity was 0.3 OD and 0.2 OS." "6y" "" "visual effects noted for the first time" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259327" "04214" "00363989" "01695" "Familial, autosomal recessive" "" "At the age of 14 the fundus of the patient showed resorption of the flecks and extensive atrophy of the choriocapillaris in the macula. At that time the Best corrected visual acuity was 0.03 OD and 0.05 OS." "7y" "" "visual effects noted for the first time" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259328" "04214" "00363990" "01695" "Familial, autosomal recessive" "" "At the age of 15 the fundus of the patient showed atrophic-appearing ‘‘beaten-bronze’’ foveal appearance and/or parafoveal or perifoveal yellow-whitish flecks. At that time the Best corrected visual acuity was 0.05 OD and 0.05 OS." "8y" "" "visual effects noted for the first time" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259329" "04214" "00363991" "01695" "Familial, autosomal recessive" "" "At the age of 19 the Best corrected visual acuity was 0.05 OD and 0.04 OS." "9y" "" "visual effects noted for the first time" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000259330" "04214" "00363992" "01695" "Familial, autosomal recessive" "" "At the age of 13 the Best corrected visual acuity was 0.07 OD and 0.1 OS." "9y" "" "visual effects noted for the first time" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000259331" "04214" "00363993" "01695" "Familial, autosomal recessive" "" "At the age of 9 the Best corrected visual acuity was 0.03 OD and 0.03 OS." "9y" "" "visual effects noted for the first time" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000259332" "04214" "00363994" "01695" "Familial, autosomal recessive" "" "At the age of 29 the Best corrected visual acuity was 0.1 OD and 0.1 OS." "17y" "" "visual effects noted for the first time" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000259333" "04214" "00363995" "01695" "Familial, autosomal recessive" "" "At the age of 9 the Best corrected visual acuity was 0.05 OD and 0.05 OS." "9y" "" "visual effects noted for the first time" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000259334" "04214" "00363996" "01695" "Familial, autosomal recessive" "" "At the age of 13 the Best corrected visual acuity was 0.1 OD and 0.1 OS." "8y" "" "visual effects noted for the first time" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000259335" "04214" "00363997" "01695" "Familial, autosomal recessive" "" "At the age of 12 the Best corrected visual acuity was 0.1 OD and 0.1 OS." "10y" "" "visual effects noted for the first time" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000259336" "04214" "00363998" "01695" "Familial, autosomal recessive" "" "At the age of 10 the Best corrected visual acuity was 0.1 OD and 0.1 OS." "9y" "" "visual effects noted for the first time" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000259337" "04214" "00363999" "01695" "Familial, autosomal recessive" "" "At the age of 10 the Best corrected visual acuity was 0.2 OD and 0.2 OS." "10y" "" "visual effects noted for the first time" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000259338" "04214" "00364000" "01695" "Familial, autosomal recessive" "" "At the age of 7 the Best corrected visual acuity was 0.3 OD and 0.1 OS." "5y" "" "visual effects noted for the first time" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000259339" "04214" "00364001" "01695" "Familial, autosomal recessive" "" "At the age of 13 the Best corrected visual acuity was 0.8 OD and 0.8 OS." "13y" "" "visual effects noted for the first time" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000259340" "04214" "00364002" "01695" "Familial, autosomal recessive" "" "At the age of 7 the Best corrected visual acuity was 0.2 OD and 0.1 OS." "<12y" "" "visual effects noted for the first time" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000259341" "04214" "00364003" "01695" "Familial, autosomal recessive" "" "At the age of 7 the Best corrected visual acuity was 0.1 OD and 0.1 OS." "6y" "" "visual effects noted for the first time" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000259342" "04214" "00364004" "01695" "Familial, autosomal recessive" "" "At the age of 8 the Best corrected visual acuity was 0.04 OD and 0.04 OS." "7y" "" "visual effects noted for the first time" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000259343" "04214" "00364005" "01695" "Familial, autosomal recessive" "" "At the age of 29 the Best corrected visual acuity was 0.02 OD and 0.04 OS." "9y" "" "visual effects noted for the first time" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000259344" "04214" "00364006" "01695" "Familial, autosomal recessive" "" "At the age of 21 the Best corrected visual acuity was 0.04 OD and 0.04 OS." "<12y" "" "visual effects noted for the first time" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000259345" "04214" "00364007" "01695" "Familial, autosomal recessive" "" "At the age of 34 the Best corrected visual acuity was HM OD and HM OS." "<12y" "" "visual effects noted for the first time" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000259346" "04214" "00364008" "01695" "Familial, autosomal recessive" "" "At the age of 50 the Best corrected visual acuity was 0.02 OD and HM OS." "35y" "" "visual effects noted for the first time" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000259347" "04214" "00364009" "01695" "Familial, autosomal recessive" "" "At the age of 43 the Best corrected visual acuity was 0.6 OD and 0.7 OS." "40y" "" "visual effects noted for the first time" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000259348" "04214" "00364010" "01695" "Familial, autosomal recessive" "" "At the age of 33 the Best corrected visual acuity was 0.07 OD and 0.07 OS." "10y" "" "visual effects noted for the first time" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000259349" "04214" "00364011" "01695" "Familial, autosomal recessive" "" "At the age of 20 the Best corrected visual acuity was 0.04 OD and 0.02 OS." "10y" "" "visual effects noted for the first time" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000259350" "04214" "00364012" "01695" "Familial, autosomal recessive" "" "At the age of 22 the Best corrected visual acuity was 0.1 OD and 0.1 OS." "10y" "" "visual effects noted for the first time" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000259351" "04214" "00364013" "01695" "Familial, autosomal recessive" "" "At the age of 10 the Best corrected visual acuity was 0.1 OD and 0.2 OS." "<12y" "" "visual effects noted for the first time" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000259352" "04214" "00364014" "01695" "Familial, autosomal recessive" "" "At the age of 10 the Best corrected visual acuity was 0.1 OD and 0.1 OS." "<12y" "" "visual effects noted for the first time" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000259353" "04214" "00364015" "01695" "Familial, autosomal recessive" "" "At the age of 22 the Best corrected visual acuity was 0.07 OD and 0.1 OS." "<12y" "" "visual effects noted for the first time" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000259354" "04214" "00364016" "01695" "Isolated (sporadic)" "" "At the age of 44, EOG was: not performed, ERG scotopic was: normal and ERG photpic was: normal." "18y" "" "reduced visual acuity" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259355" "04214" "00364017" "01695" "Isolated (sporadic)" "" "At the age of 51, EOG was: not performed, ERG scotopic was: normal and ERG photpic was: normal." "50y" "" "reduced visual acuity" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259356" "04214" "00364018" "01695" "Familial, autosomal recessive" "" "At the age of 34, EOG was: not performed, ERG scotopic was: not performed and ERG photpic was: not performed." "27y" "" "reduced visual acuity" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259357" "04214" "00364019" "01695" "Familial, autosomal recessive" "" "At the age of 11, EOG was: not performed, ERG scotopic was: borderline and ERG photpic was: reduced." "6y" "" "reduced visual acuity" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259358" "04214" "00364020" "01695" "Isolated (sporadic)" "" "At the age of 76, EOG was: not performed, ERG scotopic was: not performed and ERG photpic was: not performed." "60y" "" "reduced visual acuity" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259359" "04214" "00364021" "01695" "Isolated (sporadic)" "" "At the age of 20, EOG was: normal, ERG scotopic was: borderline and ERG photpic was: reduced." "18y" "" "reduced visual acuity" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259360" "04214" "00364022" "01695" "Isolated (sporadic)" "" "At the age of 60, EOG was: not performed, ERG scotopic was: normal and ERG photpic was: reduced." "60y" "" "reduced visual acuity" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259361" "04214" "00364023" "01695" "Familial, autosomal recessive" "" "At the age of 17, EOG was: not performed, ERG scotopic was: reduced and ERG photpic was: reduced." "9y" "" "reduced visual acuity" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259362" "04214" "00364024" "01695" "Isolated (sporadic)" "" "At the age of 32, EOG was: not performed, ERG scotopic was: reduced and ERG photpic was: reduced." "23y" "" "reduced visual acuity" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259363" "04214" "00364025" "01695" "Familial, autosomal recessive" "" "At the age of 15, EOG was: not performed, ERG scotopic was: normal and ERG photpic was: reduced." "13y" "" "reduced visual acuity" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259364" "04214" "00364026" "01695" "Isolated (sporadic)" "" "At the age of 35, EOG was: not performed, ERG scotopic was: reduced and ERG photpic was: reduced." "32y" "" "reduced visual acuity" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259365" "04214" "00364027" "01695" "Isolated (sporadic)" "" "At the age of 29, EOG was: not performed, ERG scotopic was: normal and ERG photpic was: reduced." "23y" "" "reduced visual acuity" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259366" "04214" "00364028" "01695" "Isolated (sporadic)" "" "At the age of 40, EOG was: not performed, ERG scotopic was: normal and ERG photpic was: reduced." "35y" "" "reduced visual acuity" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259367" "04214" "00364029" "01695" "Isolated (sporadic)" "" "At the age of 40, EOG was: not performed, ERG scotopic was: normal and ERG photpic was: normal." "20y" "" "reduced visual acuity" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259368" "04214" "00364030" "01695" "Isolated (sporadic)" "" "At the age of 67, EOG was: not performed, ERG scotopic was: reduced and ERG photpic was: reduced." "39y" "" "reduced visual acuity" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259369" "04214" "00364031" "01695" "Familial, autosomal recessive" "" "At the age of 45, EOG was: not performed, ERG scotopic was: not performed and ERG photpic was: not performed." "35y" "" "reduced visual acuity" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259370" "04214" "00364032" "01695" "Isolated (sporadic)" "" "At the age of 28, EOG was: not performed, ERG scotopic was: reduced and ERG photpic was: extinguished." "<18y" "" "reduced visual acuity" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259371" "04214" "00364033" "01695" "Isolated (sporadic)" "" "At the age of 18, EOG was: not performed, ERG scotopic was: normal and ERG photpic was: reduced." "14y" "" "reduced visual acuity" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259372" "04214" "00364034" "01695" "Isolated (sporadic)" "" "At the age of 54, EOG was: not performed, ERG scotopic was: not performed and ERG photpic was: not performed." "43y" "" "reduced visual acuity" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259373" "04214" "00364035" "01695" "Isolated (sporadic)" "" "At the age of 29, EOG was: not performed, ERG scotopic was: normal and ERG photpic was: normal." "27y" "" "reduced visual acuity" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259374" "04214" "00364036" "01695" "Familial, autosomal recessive" "" "At the age of 35, EOG was: not performed, ERG scotopic was: reduced and ERG photpic was: extinguished." "7y" "" "reduced visual acuity" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259375" "04214" "00364037" "01695" "Familial, autosomal recessive" "" "At the age of 66, EOG was: normal, ERG scotopic was: normal and ERG photpic was: normal." "19y" "" "reduced visual acuity" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259376" "04214" "00364038" "01695" "Isolated (sporadic)" "" "At the age of 49, EOG was: not performed, ERG scotopic was: borderline and ERG photpic was: reduced." "44y" "" "reduced visual acuity" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259377" "04214" "00364039" "01695" "Isolated (sporadic)" "" "At the age of 37, EOG was: not performed, ERG scotopic was: reduced and ERG photpic was: reduced." "18y" "" "reduced visual acuity" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259379" "04214" "00364041" "01695" "Isolated (sporadic)" "" "At the age of 42, EOG was: not performed, ERG scotopic was: normal and ERG photpic was: reduced." "32y" "" "reduced visual acuity" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259380" "04214" "00364042" "01695" "Isolated (sporadic)" "" "At the age of 39, EOG was: not performed, ERG scotopic was: not performed and ERG photpic was: not performed." "19y" "" "reduced visual acuity" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259381" "04214" "00364043" "01695" "Familial, autosomal recessive" "" "At the age of 36, EOG was: not performed, ERG scotopic was: normal and ERG photpic was: reduced." "31y" "" "reduced visual acuity" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259382" "04214" "00364044" "01695" "Isolated (sporadic)" "" "At the age of 14, EOG was: not performed, ERG scotopic was: borderline and ERG photpic was: reduced." "11y" "" "reduced visual acuity" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259383" "04214" "00364045" "01695" "Isolated (sporadic)" "" "At the age of 55, EOG was: not performed, ERG scotopic was: normal and ERG photpic was: reduced." "44y" "" "reduced visual acuity" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259384" "04214" "00364046" "01695" "Isolated (sporadic)" "" "At the age of 35, EOG was: not performed, ERG scotopic was: not analyzable and ERG photpic was: not analyzable." "24y" "" "reduced visual acuity" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259385" "04214" "00364047" "01695" "Isolated (sporadic)" "" "At the age of 16, EOG was: not performed, ERG scotopic was: reduced and ERG photpic was: reduced." "8y" "" "reduced visual acuity" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259386" "04214" "00364048" "01695" "Isolated (sporadic)" "" "At the age of 24, EOG was: borderline, ERG scotopic was: normal and ERG photpic was: borderline." "6y" "" "reduced visual acuity" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259387" "04214" "00364049" "01695" "Isolated (sporadic)" "" "At the age of 49, EOG was: not performed, ERG scotopic was: normal and ERG photpic was: reduced." "46y" "" "reduced visual acuity" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259388" "04214" "00364050" "01695" "Isolated (sporadic)" "" "At the age of 34, EOG was: not performed, ERG scotopic was: borderline and ERG photpic was: reduced." "31y" "" "reduced visual acuity" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259389" "04214" "00364051" "01695" "Isolated (sporadic)" "" "At the age of 60, EOG was: not performed, ERG scotopic was: not performed and ERG photpic was: not performed. At the age of 61, BCVA (RE/LE) was 0.2 / --- . Ff-ERG showed normal scotopic and photopic responses in the right eye and --- in the left eye. More information can be found in Müller et al., 2020." "50y" "" "reduced visual acuity" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259390" "04214" "00364052" "01695" "Isolated (sporadic)" "" "At the age of 50, EOG was: not performed, ERG scotopic was: not performed and ERG photpic was: not performed." "44y" "" "reduced visual acuity" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259391" "04214" "00364053" "01695" "Isolated (sporadic)" "" "At the age of 39, EOG was: not performed, ERG scotopic was: not analyzable and ERG photpic was: not analyzable." "14y" "" "reduced visual acuity" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259392" "04214" "00364054" "01695" "Familial, autosomal recessive" "" "At the age of 40, EOG was: not performed, ERG scotopic was: reduced and ERG photpic was: reduced." "12y" "" "reduced visual acuity" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259393" "04214" "00364055" "01695" "Isolated (sporadic)" "" "At the age of 18, EOG was: not performed, ERG scotopic was: borderline and ERG photpic was: reduced." "17y" "" "reduced visual acuity" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259394" "04214" "00364056" "01695" "Isolated (sporadic)" "" "At the age of 40, EOG was: not performed, ERG scotopic was: normal and ERG photpic was: reduced." "38y" "" "photophobia" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259395" "04214" "00364057" "01695" "Familial, autosomal recessive" "" "At the age of 62, EOG was: not performed, ERG scotopic was: not performed and ERG photpic was: not performed." "31y" "" "metamorphopsia" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259396" "04214" "00364058" "01695" "Isolated (sporadic)" "" "At the age of 16, EOG was: not performed, ERG scotopic was: reduced and ERG photpic was: reduced." "9y" "" "reduced visual acuity" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259397" "04214" "00364059" "01695" "Familial, autosomal recessive" "" "At the age of 17, EOG was: not performed, ERG scotopic was: normal and ERG photpic was: normal." "7y" "" "reduced visual acuity" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259398" "04214" "00364060" "01695" "Familial, autosomal recessive" "" "At the age of 54, EOG was: not performed, ERG scotopic was: normal and ERG photpic was: normal." "20y" "" "reduced visual acuity" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259399" "04214" "00364061" "01695" "Isolated (sporadic)" "" "At the age of 23, EOG was: not performed, ERG scotopic was: reduced and ERG photpic was: reduced." "20y" "" "reduced visual acuity" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259400" "04214" "00364062" "01695" "Isolated (sporadic)" "" "At the age of 47, EOG was: not performed, ERG scotopic was: reduced and ERG photpic was: reduced." "45y" "" "reduced visual acuity" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259401" "04214" "00364063" "01695" "Isolated (sporadic)" "" "At the age of 25, EOG was: not performed, ERG scotopic was: normal and ERG photpic was: normal." "24y" "" "reduced visual acuity" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259402" "04214" "00364064" "01695" "Familial, autosomal recessive" "" "At the age of 58, EOG was: not performed, ERG scotopic was: normal and ERG photpic was: normal." "45y" "" "reduced visual acuity" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259404" "04214" "00364066" "01695" "Isolated (sporadic)" "" "At the age of 37, EOG was: not performed, ERG scotopic was: normal and ERG photpic was: normal." "13y" "" "reduced visual acuity" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259405" "04214" "00364067" "01695" "Isolated (sporadic)" "" "At the age of 29, EOG was: not performed, ERG scotopic was: normal and ERG photpic was: normal." "25y" "" "reduced visual acuity" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259406" "04214" "00364068" "01695" "Isolated (sporadic)" "" "At the age of 41, EOG was: not performed, ERG scotopic was: borderline and ERG photpic was: borderline." "17y" "" "reduced visual acuity" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259407" "04214" "00364069" "01695" "Unknown" "" "At the age of 23, EOG was: not performed, ERG scotopic was: extinguished and ERG photpic was: extinguished." "8y" "" "reduced visual acuity" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259408" "04214" "00364070" "01695" "Isolated (sporadic)" "" "At the age of 48, EOG was: not performed, ERG scotopic was: normal and ERG photpic was: reduced." "24y" "" "reduced visual acuity" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259409" "04214" "00364071" "01695" "Isolated (sporadic)" "" "At the age of 26, EOG was: not performed, ERG scotopic was: not analyzable and ERG photpic was: not analyzable." "10y" "" "reduced visual acuity" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259410" "04214" "00364072" "01695" "Familial, autosomal recessive" "" "At the age of 31, EOG was: not performed, ERG scotopic was: normal and ERG photpic was: reduced." "12y" "" "reduced visual acuity" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259411" "04214" "00364073" "01695" "Isolated (sporadic)" "" "At the age of 50, EOG was: not performed, ERG scotopic was: borderline and ERG photpic was: reduced." "25y" "" "reduced visual acuity" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259412" "04214" "00364074" "01695" "Isolated (sporadic)" "" "At the age of 16, EOG was: not performed, ERG scotopic was: normal and ERG photpic was: reduced." "13y" "" "reduced visual acuity" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259413" "04214" "00364075" "01695" "Familial, autosomal recessive" "" "At the age of 50, EOG was: not performed, ERG scotopic was: reduced and ERG photpic was: reduced." "25y" "" "reduced visual acuity" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259414" "04214" "00364076" "01695" "Isolated (sporadic)" "" "At the age of 27, EOG was: not performed, ERG scotopic was: normal and ERG photpic was: reduced." "17y" "" "reduced visual acuity" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259415" "04214" "00364077" "01695" "Isolated (sporadic)" "" "At the age of 30, EOG was: not performed, ERG scotopic was: normal and ERG photpic was: reduced." "25y" "" "reduced visual acuity" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259416" "04214" "00364078" "01695" "Unknown" "" "At the age of 45, EOG was: not performed, ERG scotopic was: borderline and ERG photpic was: borderline." "31y" "" "haze,metamorphopsia" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259417" "04214" "00364079" "01695" "Familial, autosomal recessive" "" "At the age of 18, EOG was: not performed, ERG scotopic was: not performed and ERG photpic was: not performed." "7y" "" "reduced visual acuity" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259418" "04214" "00364080" "01695" "Isolated (sporadic)" "" "At the age of 51, EOG was: not performed, ERG scotopic was: reduced and ERG photpic was: reduced." "32y" "" "reduced visual acuity" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259419" "04214" "00364081" "01695" "Isolated (sporadic)" "" "At the age of 61, EOG was: not performed, ERG scotopic was: not performed and ERG photpic was: not performed." "55y" "" "reduced visual acuity" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259420" "04214" "00364082" "01695" "Isolated (sporadic)" "" "At the age of 32, EOG was: not performed, ERG scotopic was: normal and ERG photpic was: normal." "12y" "" "reduced visual acuity" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259421" "04214" "00364083" "01695" "Isolated (sporadic)" "" "At the age of 45, EOG was: not performed, ERG scotopic was: normal and ERG photpic was: borderline." "37y" "" "reduced visual acuity" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259422" "04214" "00364084" "01695" "Isolated (sporadic)" "" "At the age of 13, EOG was: not performed, ERG scotopic was: borderline and ERG photpic was: borderline." "11y" "" "reduced visual acuity" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259423" "04214" "00364085" "01695" "Isolated (sporadic)" "" "At the age of 65, EOG was: normal, ERG scotopic was: normal and ERG photpic was: normal." "63y" "" "reduced visual acuity" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259424" "04214" "00364086" "01695" "Isolated (sporadic)" "" "At the age of 55, EOG was: not performed, ERG scotopic was: normal and ERG photpic was: reduced." "52y" "" "metamorphopsia,photophobia" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259425" "04214" "00364087" "01695" "Isolated (sporadic)" "" "At the age of 35, EOG was: not performed, ERG scotopic was: normal and ERG photpic was: normal." "35y" "" "incidental finding" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259426" "04214" "00364088" "01695" "Isolated (sporadic)" "" "At the age of 63, EOG was: not performed, ERG scotopic was: extinguished and ERG photpic was: extinguished." "8y" "" "reduced visual acuity" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259427" "04214" "00364089" "01695" "Isolated (sporadic)" "" "At the age of 22, EOG was: not performed, ERG scotopic was: normal and ERG photpic was: reduced." "14y" "" "reduced visual acuity" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259428" "04214" "00364090" "01695" "Isolated (sporadic)" "" "At the age of 38, EOG was: not performed, ERG scotopic was: borderline and ERG photpic was: reduced." "37y" "" "reduced visual acuity" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259429" "04214" "00364091" "01695" "Isolated (sporadic)" "" "At the age of 15, EOG was: not performed, ERG scotopic was: normal and ERG photpic was: normal." "13y" "" "reduced visual acuity" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259430" "04214" "00364092" "01695" "Isolated (sporadic)" "" "At the age of 42, EOG was: not performed, ERG scotopic was: reduced and ERG photpic was: reduced." "40y" "" "reduced visual acuity" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259431" "04214" "00364093" "01695" "Isolated (sporadic)" "" "At the age of 74, EOG was: not performed, ERG scotopic was: not performed and ERG photpic was: not performed." "58y" "" "reduced visual acuity" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259432" "04214" "00364094" "01695" "Isolated (sporadic)" "" "At the age of 28, EOG was: not performed, ERG scotopic was: reduced and ERG photpic was: borderline." "8y" "" "reduced visual acuity" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259433" "04214" "00364095" "01695" "Isolated (sporadic)" "" "At the age of 18, EOG was: not performed, ERG scotopic was: reduced and ERG photpic was: reduced." "5y" "" "reduced visual acuity" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259434" "04214" "00364096" "01695" "Isolated (sporadic)" "" "At the age of 14, EOG was: not performed, ERG scotopic was: normal and ERG photpic was: reduced." "8y" "" "reduced visual acuity" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259435" "04214" "00364097" "01695" "Isolated (sporadic)" "" "At the age of 35, EOG was: not performed, ERG scotopic was: not performed and ERG photpic was: not performed." "5y" "" "reduced visual acuity" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259436" "04214" "00364098" "01695" "Unknown" "" "At the age of 62, EOG was: not performed, ERG scotopic was: reduced and ERG photpic was: reduced." "21y" "" "reduced visual acuity" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259437" "04214" "00364099" "01695" "Familial, autosomal recessive" "" "At the age of 37, EOG was: not performed, ERG scotopic was: borderline and ERG photpic was: borderline." "20y" "" "reduced visual acuity" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259438" "04214" "00364100" "01695" "Isolated (sporadic)" "" "At the age of 56, EOG was: not performed, ERG scotopic was: normal and ERG photpic was: normal." "53y" "" "reduced visual acuity" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259439" "04214" "00364101" "01695" "Isolated (sporadic)" "" "At the age of 11, EOG was: not performed, ERG scotopic was: not analyzable and ERG photpic was: not analyzable." "8y" "" "reduced visual acuity" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259440" "04214" "00364102" "01695" "Familial, autosomal recessive" "" "At the age of 62, EOG was: not performed, ERG scotopic was: not performed and ERG photpic was: not performed." "37y" "" "reduced visual acuity,night vision problems / dark adaption problems, photophobia" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259441" "04214" "00364103" "01695" "Isolated (sporadic)" "" "At the age of 55, EOG was: not performed, ERG scotopic was: not performed and ERG photpic was: not performed." "54y" "" "reduced visual acuity" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259442" "04214" "00364104" "01695" "Familial, autosomal recessive" "" "At the age of 61, EOG was: not performed, ERG scotopic was: normal and ERG photpic was: borderline." "59y" "" "reduced visual acuity" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259443" "04214" "00364105" "01695" "Familial, autosomal recessive" "" "At the age of 66, EOG was: not performed, ERG scotopic was: normal and ERG photpic was: reduced." "64y" "" "reduced visual acuity" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259444" "04214" "00364106" "01695" "Isolated (sporadic)" "" "At the age of 36, EOG was: not performed, ERG scotopic was: normal and ERG photpic was: normal." "16y" "" "reduced visual acuity" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259445" "04214" "00364107" "01695" "Isolated (sporadic)" "" "At the age of 55, EOG was: not performed, ERG scotopic was: reduced and ERG photpic was: reduced." "42y" "" "reduced visual acuity" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259446" "04214" "00364108" "01695" "Isolated (sporadic)" "" "At the age of 11, EOG was: not performed, ERG scotopic was: reduced and ERG photpic was: reduced." "10y" "" "reduced visual acuity" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259447" "04214" "00364109" "01695" "Isolated (sporadic)" "" "At the age of 28, EOG was: not performed, ERG scotopic was: reduced and ERG photpic was: reduced." "23y" "" "reduced visual acuity,haze" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259448" "04214" "00364110" "01695" "Unknown" "" "At the age of 14 BCAVA OD was 1logMAR and BCVA OS was 1logMAR. Fundus appearance was: Macular dystrophy" "13y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259449" "04214" "00364111" "01695" "Unknown" "" "At the age of 36 BCAVA OD was 0,2logMAR and BCVA OS was 0,1logMAR. Fundus appearance was: Macular dystrophy" "33y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259450" "04214" "00364112" "01695" "Unknown" "" "At the age of 11 BCAVA OD was 0,7logMAR and BCVA OS was 1logMAR. Fundus appearance was: Macular dystrophy" "10y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259451" "04214" "00364113" "01695" "Unknown" "" "At the age of 37 BCAVA OD was 1logMAR and BCVA OS was 1logMAR. Fundus appearance was: Macular RPE atrophy with flecks inside vascular arcades" "8y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259452" "04214" "00364114" "01695" "Unknown" "" "At the age of 36 BCAVA OD was 0,7logMAR and BCVA OS was 0,7logMAR. Fundus appearance was: Macular RPE atrophy with flecks inside vascular arcades" "26y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259453" "04214" "00364115" "01695" "Unknown" "" "At the age of 53 BCAVA OD was 1,3logMAR and BCVA OS was 1,3logMAR. Fundus appearance was: Macular RPE atrophy with flecks inside vascular arcades" "12y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259454" "04214" "00364116" "01695" "Unknown" "" "At the age of 50 BCAVA OD was 1logMAR and BCVA OS was 1logMAR. Fundus appearance was: Macular RPE atrophy with flecks inside vascular arcades" "42y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259455" "04214" "00364117" "01695" "Unknown" "" "At the age of 43 BCAVA OD was 0,7logMAR and BCVA OS was 0,7logMAR. Fundus appearance was: Macular RPE atrophy with flecks inside vascular arcades" "14y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259456" "04214" "00364118" "01695" "Unknown" "" "At the age of 21 BCAVA OD was 1logMAR and BCVA OS was 1logMAR. Fundus appearance was: Macular RPE atrophy with flecks inside vascular arcades" "17y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259457" "04214" "00364119" "01695" "Unknown" "" "At the age of 26 BCAVA OD was 1logMAR and BCVA OS was 1logMAR. Fundus appearance was: Macular RPE atrophy with flecks inside vascular arcades" "17y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259458" "04214" "00364120" "01695" "Unknown" "" "At the age of 34 BCAVA OD was 1logMAR and BCVA OS was 0,7logMAR. Fundus appearance was: Macular RPE atrophy with flecks inside vascular arcades" "32y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259459" "04214" "00364121" "01695" "Unknown" "" "At the age of 36 BCAVA OD was 0,4logMAR and BCVA OS was 0,2logMAR. Fundus appearance was: Macular RPE atrophy with flecks inside vascular arcades" "31y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259460" "04214" "00364122" "01695" "Unknown" "" "At the age of 31 BCAVA OD was 0,4logMAR and BCVA OS was 0,7logMAR. Fundus appearance was: Macular RPE atrophy with flecks inside vascular arcades" "23y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259461" "04214" "00364123" "01695" "Unknown" "" "At the age of 31 BCAVA OD was 1logMAR and BCVA OS was 1logMAR. Fundus appearance was: Macular RPE atrophy with flecks inside vascular arcades" "12y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259462" "04214" "00364124" "01695" "Unknown" "" "At the age of 69 BCAVA OD was 1,3logMAR and BCVA OS was 1,3logMAR. Fundus appearance was: Macular RPE atrophy with flecks inside vascular arcades" "38y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259463" "04214" "00364125" "01695" "Unknown" "" "At the age of 28 BCAVA OD was 1logMAR and BCVA OS was 1logMAR. Fundus appearance was: Macular RPE atrophy with flecks beyond vascular arcades" "17y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259464" "04214" "00364126" "01695" "Unknown" "" "At the age of 56 BCAVA OD was 1logMAR and BCVA OS was 1logMAR. Fundus appearance was: Macular RPE atrophy with flecks beyond vascular arcades" "29y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259465" "04214" "00364127" "01695" "Unknown" "" "At the age of 68 BCAVA OD was 1,6logMAR and BCVA OS was 0,1logMAR. Fundus appearance was: Macular RPE atrophy with flecks beyond vascular arcades" "45y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259466" "04214" "00364128" "01695" "Unknown" "" "At the age of 50 BCAVA OD was 1logMAR and BCVA OS was 1logMAR. Fundus appearance was: Macular RPE atrophy with flecks beyond vascular arcades" "20y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259467" "04214" "00364129" "01695" "Unknown" "" "At the age of 34 BCAVA OD was 1logMAR and BCVA OS was 1logMAR. Fundus appearance was: Macular RPE atrophy with flecks beyond vascular arcades" "19y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259468" "04214" "00364130" "01695" "Unknown" "" "At the age of 16 BCAVA OD was 0,7logMAR and BCVA OS was 0,7logMAR. Fundus appearance was: Macular RPE atrophy with flecks beyond vascular arcades" "10y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259469" "04214" "00364131" "01695" "Unknown" "" "At the age of 18 BCAVA OD was 0,2logMAR and BCVA OS was 0,7logMAR. Fundus appearance was: Macular RPE atrophy with no flecks" "14y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259470" "04214" "00364132" "01695" "Unknown" "" "At the age of 18 BCAVA OD was 0,4logMAR and BCVA OS was 0,1logMAR. Fundus appearance was: Macular RPE atrophy with no flecks" "14y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259471" "04214" "00364133" "01695" "Unknown" "" "At the age of 49 BCAVA OD was 1,3logMAR and BCVA OS was 1,3logMAR. Fundus appearance was: Macular RPE atrophy with no flecks" "10y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259472" "04214" "00364134" "01695" "Unknown" "" "At the age of 51 BCAVA OD was 1logMAR and BCVA OS was 1logMAR. Fundus appearance was: Macular RPE atrophy with no flecks" "25y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259473" "04214" "00364135" "01695" "Unknown" "" "At the age of 15 BCAVA OD was 1logMAR and BCVA OS was 1logMAR. Fundus appearance was: Macular RPE atrophy with no flecks" "5y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259474" "04214" "00364136" "01695" "Unknown" "" "At the age of 25 BCAVA OD was 1,6logMAR and BCVA OS was 1,3logMAR. Fundus appearance was: diffuse RPE atrophy" "8y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259475" "04214" "00364137" "01695" "Unknown" "" "At the age of 23 BCAVA OD was 0,7logMAR and BCVA OS was 1logMAR. Fundus appearance was: Diffuse RPE atrophy" "12y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259476" "04214" "00364138" "01695" "Unknown" "" "At the age of 24 BCAVA OD was 1logMAR and BCVA OS was 1logMAR. Fundus appearance was: Diffuse RPE atrophy" "10y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259477" "04214" "00364139" "01695" "Unknown" "" "At the age of 65 BCAVA OD was hmlogMAR and BCVA OS was lplogMAR. Fundus appearance was: Diffuse RPE atrophy" "9y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259478" "04214" "00364140" "01695" "Unknown" "" "At the age of 42 BCAVA OD was 1,3logMAR and BCVA OS was 1,3logMAR. Fundus appearance was: Diffuse RPE atrophy" "10y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259479" "04214" "00364141" "01695" "Unknown" "" "At the age of 29 BCAVA OD was 1logMAR and BCVA OS was 1logMAR. Fundus appearance was: Diffuse RPE atrophy" "10y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259480" "04214" "00364142" "01695" "Unknown" "" "At age 44 the patient hasn\'t smoked. Their history was: Myopic and their BCVA (Right eye / Left eye) was: 20/200 / 20/200. Color vision was: Normal. Binocular perimetry was: Central scotoma 20°. Fundus results were: Macular chorioretinal atrophy and resorption of flecks. Autofluorescence results were: Extensive fundus changes. There was Atrophy RPE. Peripapillary Sparing status was: Atrophy. SD-OCT: No foveal sparing. All components of ERG are within normal ranges." "44y" "" "Decreased VA" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259481" "04214" "00364143" "01695" "Unknown" "" "At age 16 the patient hasn\'t smoked. Their history was: Myopic and their BCVA (Right eye / Left eye) was: 20/200 / 20/250. Color vision was: Deutan. Binocular perimetry was: Central scotoma 20°. Fundus results were: Central macular atrophy with foveal or perifoveal flecks + numerous flecks, extending beyond the vascular arcades or the optic disc. Autofluorescence results were: Extensive fundus changes. There was Atrophy RPE. Peripapillary Sparing status was: Flecks. SD-OCT: No foveal sparing. Abnormal amplitudes and implicit times in response to all stimulations." "16y" "" "Decreased VA photophobia" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259482" "04214" "00364144" "01695" "Unknown" "" "At age 63 the patient -. Their history was: - and their BCVA (Right eye / Left eye) was: -. Color vision was: -. Binocular perimetry was: -. Fundus results were: Macular chorioretinal atrophy and resorption of flecks. Autofluorescence results were: Extensive fundus changes. There was Atrophy RPE. Peripapillary Sparing status was: Yes. SD-OCT: Foveal sparing. Abnormal amplitudes and implicit times in response to all the light adapted stimulations." "63y" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259483" "04214" "00364145" "01695" "Unknown" "" "At age 26 the patient hasn\'t smoked. Their history was: Negative and their BCVA (Right eye / Left eye) was: 20/160 / 20/160. Color vision was: Normal. Binocular perimetry was: Central scotoma 5°. Fundus results were: Macular chorioretinal atrophy and resorption of flecks. Autofluorescence results were: Extensive fundus changes. There was Atrophy RPE. Peripapillary Sparing status was: Flecks. SD-OCT: No foveal sparing. Abnormal amplitudes and implicit times in response to all the light adapted stimulations." "26y" "" "Decreased VA" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259484" "04214" "00364146" "01695" "Unknown" "" "At age 72 the patient has smoked in the past. Their history was: Negative and their BCVA (Right eye / Left eye) was: 20/50 / 20/32. Color vision was: Tritan. Binocular perimetry was: Paracentral scotoma 20°. Fundus results were: Extensive chorioretinal atrophy. Autofluorescence results were: Extensive fundus changes. There was Atrophy RPE. Peripapillary Sparing status was: Yes. SD-OCT: Foveal sparing. Abnormal amplitudes and implicit times in response to all stimulations." "72y" "" "Decreased VA night blindness" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259485" "04214" "00364147" "01695" "Unknown" "" "At age 52 the patient -. Their history was: - and their BCVA (Right eye / Left eye) was: 20/500 / 20/200. Color vision was: Multiple. Binocular perimetry was: Central scotoma 20°. Fundus results were: Macular chorioretinal atrophy and resorption of flecks. Autofluorescence results were: Extensive fundus changes. There was Atrophy RPE. Peripapillary Sparing status was: Atrophy. SD-OCT: Foveal sparing. Abnormal amplitudes and implicit times in response to all the light adapted stimulations." "52y" "" "Decreased VA photophobia" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259486" "04214" "00364148" "01695" "Unknown" "" "At age 56 the patient hasn\'t smoked. Their history was: Negative and their BCVA (Right eye / Left eye) was: 20/500 / 20/500. Color vision was: Deutan. Binocular perimetry was: Central scotoma 50°. Fundus results were: Extensive chorioretinal atrophy. Autofluorescence results were: Extensive fundus changes. There was Atrophy RPE. Peripapillary Sparing status was: Atrophy. SD-OCT: No foveal sparing. Abnormal amplitudes and implicit times in response to all stimulations." "56y" "" "Decreased VA" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259487" "04214" "00364149" "01695" "Unknown" "" "" "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259488" "04214" "00364150" "01695" "Unknown" "" "At age 72 the patient hasn\'t smoked. Their history was: Negative and their BCVA (Right eye / Left eye) was: 20/50 / 20/50. Color vision was: Normal. Binocular perimetry was: Paracentral scotoma 30°. Fundus results were: Extensive chorioretinal atrophy. Autofluorescence results were: Extensive fundus changes. There was Atrophy RPE. Peripapillary Sparing status was: Flecks. SD-OCT: Foveal sparing. All components of ERG are within normal ranges." "72y" "" "Decreased VA" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259489" "04214" "00364151" "01695" "Unknown" "" "At age 45 the patient hasn\'t smoked. Their history was: Right eye amblyopic and their BCVA (Right eye / Left eye) was: 20/125 / 20/125. Color vision was: Normal. Binocular perimetry was: Central scotoma 10°. Fundus results were: Central macular atrophy with foveal or perifoveal flecks. Autofluorescence results were: Central lesion with smooth border and hyperautofluorescent ring only in SW-AF. There was Atrophy RPE. Peripapillary Sparing status was: Yes. SD-OCT: No foveal sparing. All components of ERG are within normal ranges." "45y" "" "Decreased VA" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259490" "04214" "00364152" "01695" "Unknown" "" "At age 22 the patient hasn\'t smoked. Their history was: Negative and their BCVA (Right eye / Left eye) was: 20/200 / 20/160. Color vision was: Tetartan. Binocular perimetry was: Central scotoma 20°. Fundus results were: Central macular atrophy with foveal or perifoveal flecks + numerous flecks, extending beyond the vascular arcades or the optic disc. Autofluorescence results were: Extensive fundus changes. There was No atrophy RPE. Peripapillary Sparing status was: Flecks. SD-OCT: No foveal sparing. Abnormal amplitudes and implicit times in response to all the light adapted stimulations." "22y" "" "Decreased VA" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259491" "04214" "00364153" "01695" "Unknown" "" "At age 38 the patient hasn\'t smoked. Their history was: Negative and their BCVA (Right eye / Left eye) was: 20/320 / 20/250. Color vision was: Protan. Binocular perimetry was: Central scotoma 30°. Fundus results were: Extensive chorioretinal atrophy. Autofluorescence results were: Extensive fundus changes. There was Atrophy RPE. Peripapillary Sparing status was: Yes. SD-OCT: No foveal sparing. Abnormal amplitudes and implicit times in response to all the light adapted stimulations." "38y" "" "Decreased VA" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259492" "04214" "00364154" "01695" "Unknown" "" "At age 47 the patient hasn\'t smoked. Their history was: Negative and their BCVA (Right eye / Left eye) was: 20/50 / 20/200. Color vision was: Deutan. Binocular perimetry was: Paracentral scotoma 10°. Fundus results were: Central macular atrophy with foveal or perifoveal flecks. Autofluorescence results were: Extensive fundus changes. There was Atrophy RPE. Peripapillary Sparing status was: Yes. SD-OCT: Foveal sparing. All components of ERG are within normal ranges." "47y" "" "Decreased VA photophobia" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259493" "04214" "00364155" "01695" "Unknown" "" "At age 66 the patient is smoking. Their history was: Negative and their BCVA (Right eye / Left eye) was: 20/160 / 20/32. Color vision was: Protan Tritan. Binocular perimetry was: Paracentral scotoma 40°. Fundus results were: Macular chorioretinal atrophy and resorption of flecks. Autofluorescence results were: Extensive fundus changes. There was Atrophy RPE. Peripapillary Sparing status was: Yes. SD-OCT: Foveal sparing. Abnormal amplitudes and implicit times in response to all the light adapted stimulations." "66y" "" "Decreased VA" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259494" "04214" "00364156" "01695" "Unknown" "" "At age 49 the patient -. Their history was: Negative and their BCVA (Right eye / Left eye) was: 20/32 / 20/25. Color vision was: Normal. Binocular perimetry was: -. Fundus results were: Central macular atrophy with foveal or perifoveal flecks + numerous flecks, extending beyond the vascular arcades or the optic disc. Autofluorescence results were: Extensive fundus changes. There was Atrophy RPE. Peripapillary Sparing status was: Yes. SD-OCT: Foveal sparing. All components of ERG are within normal ranges." "49y" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259495" "04214" "00364157" "01695" "Unknown" "" "At age - the patient -. Their history was: - and their BCVA (Right eye / Left eye) was: -. Color vision was: -. Binocular perimetry was: -. Fundus results were: - Autofluorescence results were: - There was -. Peripapillary Sparing status was: -. -. -." "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259496" "04214" "00364158" "01695" "Unknown" "" "At age 40 the patient hasn\'t smoked. Their history was: Negative and their BCVA (Right eye / Left eye) was: 20/500 / 20/200. Color vision was: Normal. Binocular perimetry was: Central scotoma 30°. Fundus results were: Extensive chorioretinal atrophy. Autofluorescence results were: Extensive fundus changes. There was Atrophy RPE. Peripapillary Sparing status was: Yes. SD-OCT: No foveal sparing. All components of ERG are within normal ranges." "40y" "" "Decreased VA" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259497" "04214" "00364159" "01695" "Isolated (sporadic)" "" "RPE atrophy, fundus flavimaculatus and choroidal silent. Visual acuity 20/200 in both eyes." "<11y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259498" "04214" "00364160" "01695" "Isolated (sporadic)" "" "RPE atrophy, fundus flavimaculatus and choroidal silent. Visual acuity: 20/200 for the right eye and counting fingers for the left eye." "<34y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259499" "04214" "00364161" "01695" "Isolated (sporadic)" "" "RPE atrophy, fundus flavimaculatus and choroidal silent. Visual acuity: counting fingers for both eyes" "<28y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259500" "04214" "00364162" "01695" "Isolated (sporadic)" "" "RPE atrophy, fundus flavimaculatus and choroidal silent. Visual acuity: 20/200 for the left eye and counting fingers for the right eye." "<13y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259501" "04214" "00364163" "01695" "Isolated (sporadic)" "" "At the age of 32 visual acuity was 0.6, central fundus changes were moderate. Colour vision was normal. Distribution of flecks: flecks and choroidal atrophy confined to the posterior pole, i.e., within the vascular arcades." "29y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259502" "04214" "00364164" "01695" "Isolated (sporadic)" "" "At the age of 39 visual acuity was 0.4, central fundus changes were moderate. Colour vision was chaotic. Distribution of flecks: no flecks and choroidal atrophy." "23y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259503" "04214" "00364165" "01695" "Isolated (sporadic)" "" "At the age of 34 visual acuity was 0.1, central fundus changes were moderate. Colour vision was not performed. Distribution of flecks: flecks and choroidal atrophy confined to the posterior pole, i.e., within the vascular arcades." "16y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259504" "04214" "00364166" "01695" "Isolated (sporadic)" "" "At the age of 49 visual acuity was 0.1, central fundus changes were severe. Colour vision was not possible. Distribution of flecks: flecks and choroidal atrophy confined to the posterior pole, i.e., within the vascular arcades." "17y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259505" "04214" "00364167" "01695" "Isolated (sporadic)" "" "At the age of 36 visual acuity was 0.6, central fundus changes were moderate. Colour vision was very significant: tritan. Distribution of flecks: flecks and choroidal atrophy confined to the posterior pole, i.e., within the vascular arcades." "35y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259506" "04214" "00364168" "01695" "Isolated (sporadic)" "" "At the age of 28 visual acuity was 0.1, central fundus changes were mild. Colour vision was insignificant. Distribution of flecks: peripheral flecks and choroidal atrophy extending beyond the vascular arcades." "17y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259507" "04214" "00364169" "01695" "Isolated (sporadic)" "" "At the age of 20 visual acuity was 0.05, central fundus changes were moderate. Colour vision was very significant: protan/deutan. Distribution of flecks: peripheral flecks and choroidal atrophy extending beyond the vascular arcades." "9y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259508" "04214" "00364170" "01695" "Isolated (sporadic)" "" "At the age of 39 visual acuity was 0.2, central fundus changes were moderate. Colour vision was very significant: protan/deutan. Distribution of flecks: flecks and choroidal atrophy confined to the posterior pole, i.e., within the vascular arcades." "29y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259509" "04214" "00364171" "01695" "Isolated (sporadic)" "" "At the age of 28 visual acuity was 0.7, central fundus changes were mild. Colour vision was insignificant. Distribution of flecks: peripheral flecks and choroidal atrophy extending beyond the vascular arcades." "20y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259510" "04214" "00364172" "01695" "Isolated (sporadic)" "" "At the age of 46 visual acuity was 0.5, central fundus changes were mild. Colour vision was chaotic. Distribution of flecks: flecks and choroidal atrophy confined to the posterior pole, i.e., within the vascular arcades." "30y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259511" "04214" "00364173" "01695" "Isolated (sporadic)" "" "At the age of 25 visual acuity was 0.1, central fundus changes were moderate. Colour vision was significant. Distribution of flecks: peripheral flecks and choroidal atrophy extending beyond the vascular arcades." "11y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259512" "04214" "00364174" "01695" "Isolated (sporadic)" "" "At the age of 51 visual acuity was 0.8, central fundus changes were moderate. Colour vision was not possible. Distribution of flecks: peripheral flecks and choroidal atrophy extending beyond the vascular arcades." "41y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259513" "04214" "00364175" "01695" "Isolated (sporadic)" "" "At the age of 23 visual acuity was 0.1, central fundus changes were mild. Colour vision was chaotic. Distribution of flecks: no flecks and choroidal atrophy." "17y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259514" "04214" "00364176" "01695" "Isolated (sporadic)" "" "At the age of 33 visual acuity was 0.4, central fundus changes were mild. Colour vision was chaotic. Distribution of flecks: no flecks and choroidal atrophy." "30y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259515" "04214" "00364177" "01695" "Isolated (sporadic)" "" "At the age of 41 visual acuity was 0.1, central fundus changes were severe. Colour vision was very significant: tritan. Distribution of flecks: flecks and choroidal atrophy confined to the posterior pole, i.e., within the vascular arcades." "36y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259516" "04214" "00364178" "01695" "Isolated (sporadic)" "" "At the age of 59 visual acuity was 0.1, central fundus changes were severe. Colour vision was very significant: protan/deutan. Distribution of flecks: flecks and choroidal atrophy confined to the posterior pole, i.e., within the vascular arcades." "54y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259517" "04214" "00364179" "01695" "Isolated (sporadic)" "" "At the age of 32 visual acuity was 0.05, central fundus changes were moderate. Colour vision was insignificant. Distribution of flecks: flecks and choroidal atrophy confined to the posterior pole, i.e., within the vascular arcades." "22y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259518" "04214" "00364180" "01695" "Isolated (sporadic)" "" "At the age of 50 visual acuity was 0.3, central fundus changes were severe. Colour vision was very significant: protan/deutan. Distribution of flecks: peripheral flecks and choroidal atrophy extending beyond the vascular arcades." "42y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259519" "04214" "00364181" "01695" "Isolated (sporadic)" "" "At the age of 30 visual acuity was 0.1, central fundus changes were moderate. Colour vision was insignificant. Distribution of flecks: peripheral flecks and choroidal atrophy extending beyond the vascular arcades." "14y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259520" "04214" "00364182" "01695" "Isolated (sporadic)" "" "At the age of 35 visual acuity was 0.1, central fundus changes were severe. Colour vision was very significant: protan/deutan. Distribution of flecks: peripheral flecks and choroidal atrophy extending beyond the vascular arcades." "9y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259521" "04214" "00364183" "01695" "Isolated (sporadic)" "" "At the age of 23 visual acuity was 0.05, central fundus changes were mild. Colour vision was significant. Distribution of flecks: peripheral flecks and choroidal atrophy extending beyond the vascular arcades." "18y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259522" "04214" "00364184" "01695" "Isolated (sporadic)" "" "At the age of 25 visual acuity was 0.2, central fundus changes were mild. Colour vision was chaotic. Distribution of flecks: flecks and choroidal atrophy confined to the posterior pole, i.e., within the vascular arcades." "18y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259523" "04214" "00364185" "01695" "Isolated (sporadic)" "" "At the age of 16 visual acuity was 0.1, central fundus changes were moderate. Colour vision was chaotic. Distribution of flecks: flecks and choroidal atrophy confined to the posterior pole, i.e., within the vascular arcades." "11y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259524" "04214" "00364186" "01695" "Isolated (sporadic)" "" "At the age of 40 visual acuity was 0.1, central fundus changes were moderate. Colour vision was very significant: protan/deutan. Distribution of flecks: peripheral flecks and choroidal atrophy extending beyond the vascular arcades." "35y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259525" "04214" "00364187" "01695" "Isolated (sporadic)" "" "At the age of 28 visual acuity was 0.1, central fundus changes were moderate. Colour vision was significant. Distribution of flecks: flecks and choroidal atrophy confined to the posterior pole, i.e., within the vascular arcades." "27y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259526" "04214" "00364188" "01695" "Isolated (sporadic)" "" "At the age of 32 visual acuity was 0.05, central fundus changes were severe. Colour vision was chaotic. Distribution of flecks: peripheral flecks and choroidal atrophy extending beyond the vascular arcades." "9y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259527" "04214" "00364189" "01695" "Isolated (sporadic)" "" "At the age of 23 visual acuity was 0.2, central fundus changes were moderate. Colour vision was insignificant. Distribution of flecks: flecks and choroidal atrophy confined to the posterior pole, i.e., within the vascular arcades." "21y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259528" "04214" "00364190" "01695" "Isolated (sporadic)" "" "At the age of 38 visual acuity was reduced to finger counting, central fundus changes were moderate. Colour vision was chaotic. Distribution of flecks: no flecks and choroidal atrophy." "33y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259529" "04214" "00364191" "01695" "Isolated (sporadic)" "" "At the age of 27 visual acuity was 0.2, central fundus changes were moderate. Colour vision was chaotic. Distribution of flecks: flecks and choroidal atrophy confined to the posterior pole, i.e., within the vascular arcades." "25y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259530" "04214" "00364192" "01695" "Isolated (sporadic)" "" "At the age of 16 visual acuity was 0.1, central fundus changes were moderate. Colour vision was very significant: protan/deutan. Distribution of flecks: flecks and choroidal atrophy confined to the posterior pole, i.e., within the vascular arcades." "15y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259531" "04214" "00364193" "01695" "Isolated (sporadic)" "" "At the age of 27 visual acuity was 0.6, central fundus changes were moderate. Colour vision was significant. Distribution of flecks: no flecks and choroidal atrophy." "26y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259532" "04214" "00364194" "01695" "Isolated (sporadic)" "" "At the age of 29 visual acuity was 0.1, central fundus changes were moderate. Colour vision was chaotic. Distribution of flecks: flecks and choroidal atrophy confined to the posterior pole, i.e., within the vascular arcades." "9y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259533" "04214" "00364195" "01695" "Isolated (sporadic)" "" "At the age of 39 visual acuity was 0.1, central fundus changes were mild. Colour vision was not possible. Distribution of flecks: no flecks and choroidal atrophy." "28y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259534" "04214" "00364196" "01695" "Isolated (sporadic)" "" "At the age of 23 visual acuity was 0.05, central fundus changes were mild. Colour vision was not possible. Distribution of flecks: no flecks and choroidal atrophy." "12y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259535" "04214" "00364197" "01695" "Isolated (sporadic)" "" "At the age of 43 visual acuity was 0.2, central fundus changes were moderate. Colour vision was very significant: protan/deutan. Distribution of flecks: flecks and choroidal atrophy confined to the posterior pole, i.e., within the vascular arcades." "36y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259536" "04214" "00364198" "01695" "Isolated (sporadic)" "" "At the age of 21 visual acuity was 0.4, central fundus changes were mild. Colour vision was insignificant. Distribution of flecks: peripheral flecks and choroidal atrophy extending beyond the vascular arcades." "18y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259537" "04214" "00364199" "01695" "Familial, autosomal recessive" "" "At the age of 35 visual acuity was 0.05, central fundus changes were moderate. Colour vision was chaotic. Distribution of flecks: flecks and choroidal atrophy confined to the posterior pole, i.e., within the vascular arcades." "15y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259538" "04214" "00364200" "01695" "Familial, autosomal recessive" "" "At the age of 43 visual acuity was reduced to hand motions, central fundus changes were severe. Colour vision was not possible. Distribution of flecks: peripheral flecks and choroidal atrophy extending beyond the vascular arcades." "14y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259539" "04214" "00364201" "01695" "Isolated (sporadic)" "" "Visual acuity was decreased to 0.05 in both eyes. The fundus showed a large and strictly limited central RPE atrophy with central hyperpigmentations. The mid-periphery showed the typical white-yellow spots. The optic disc was slightly pale temporally. Visual fields revealed large central scotomas in both eyes and eccentric fixation. ERG data available in Scholl et al., 2001, PMID 11372548." "18y" "" "reduced visual acuity and color vision defects" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259540" "04214" "00364202" "01695" "Unknown" "" "No patient in this cadre had a dark choroid sign on fluorescein angiography, none had evidence of perifoveal, midperipheral, or peripheral flecks consistent with STGD1/fundus flavimaculatus on any clinical or photographic examination, and none had any family history of inherited retinopathy. Treated with chloroquine for 20 years." "" "" "unknown" "" "" "" "" "" "" "chloroquine induced retinopathy" ""
"0000259541" "04214" "00364203" "01695" "Unknown" "" "No patient in this cadre had a dark choroid sign on fluorescein angiography, none had evidence of perifoveal, midperipheral, or peripheral flecks consistent with STGD1/fundus flavimaculatus on any clinical or photographic examination, and none had any family history of inherited retinopathy. Treated with chloroquine for 1.5 years." "" "" "unknown" "" "" "" "" "" "" "Stargardt disease, chloroquine induced retinopathy" ""
"0000259542" "04214" "00364204" "01695" "Familial, autosomal recessive" "" "At the age of 20 visual acuity was 0.3/0.4 (OD/OS)" "13y" "" "visual failure manifested" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259543" "04214" "00364205" "01695" "Familial, autosomal recessive" "" "At the age of 19 visual acuity was 0.5/0.4 (OD/OS)" "16y" "" "visual failure manifested" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259544" "04214" "00364206" "01695" "Familial, autosomal recessive" "" "At the age of 12 visual acuity was 0.4/0.4 (OD/OS)" "6y" "" "visual failure manifested" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259545" "04214" "00364207" "01695" "Familial, autosomal recessive" "" "At the age of 8 visual acuity was 0.1/0.1 (OD/OS)" "5y" "" "visual failure manifested" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259546" "04214" "00364208" "01695" "Unknown" "" "An 8-year-old girl presented with a 4-month history of progressively worsening central vision. In retrospect, the parents noticed vision problems as early as 6 years of age. On examination, her color vision was markedly abnormal with 0/15 and 2/15 Ishihara color plates correctly read with the right and left eyes, respectively. Her visual acuity was 20/200 for both eyes and Goldmann perimetry demonstrated bilateral paracentral/central scotomas. Fundus examination demonstrated minimal macular stippling with no evidence of pisciform flecks in the periphery. The clinical diagnosis of Stargardt macular dystrophy was made and the patient underwent ERG testing, which demonstrated a moderate reduction of the dark-adapted responses of rods and severely depressed and prolonged photopic responses including the 30 Hz flicker." "6y" "" "vision problems" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259547" "04214" "00364209" "01695" "Unknown" "" "A 10-year-old girl presented with decreased central vision for at least 4 years. During a kindergarten exam, her visual acuity had been recorded to be 20/70 for both eyes. At age 10 years, her visual acuity was 20/200 for both eyes. Goldmann perimetry demonstrated dense bilateral central scotomas. Fundus examination revealed a beaten metal appearance of her maculae and numerous pisciform flecks in the midperiphery of both eyes. An ERG testing demonstrated mildly subnormal responses of dark-adapted rods but severely depressed and prolonged photopic responses (30 _x005F_x0002_V at 38.1 millisecond, normal mean 239 _x005F_x0002_V at 31.0 milliseconds) and 30 Hz flicker (26 _x005F_x0002_V at 35.7 milliseconds, normal mean 137 _x005F_x0002_V at 24.8 milliseconds). Four years later, her vision was 20/400 for the right eye and 20/200 for the left eye. Her fundus exam had changed significantly. The pisciform lesions had faded, leaving a grayish mottling in the mid periphery. The maculae demonstrated worsening of the beaten bronze appearance. Repeat ERG (age 14 years) demonstrated mild further rod loss. Photopic responses were now 1/3 to 1/2 the previous amplitude (10 _x005F_x0002_V single flash; 15 _x005F_x0002_V flicker)." "6y" "" "decreased central vision" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259548" "04214" "00364210" "01695" "Unknown" "" "A 20-year-old man presented with a history of blurring of central vision, mild subjective dyschromatopsia and mild nyctalopia beginning at age 16 years. His referring physician had documented bilateral central scotomas with a Humphrey 10–2 visual field. On examination, he was 20/40 for both eyes in his appropriate correction and read 19/20 AOHRR plates correctly with both eyes. Goldmann perimetry demonstrated 5° central scotomas to the I3e and I4e isopters. Final dark adaptation thresholds were normal for both eyes. Fundus examination demonstrated bilateral “bulls-eye” lesions in the parafoveal regions and small parafoveal flecks. No peripheral flecks were noted. The ERG demonstrated completely normal rod responses. Responses of dark-adapted cones seemed subnormal when examined with the red flash, especially at the lower test intensity. Both scotopic and photopic 30 Hz flicker responses were decreased in amplitude. The maximum combined scotopic responses were borderline in amplitude but had normal implicit times. The photopic responses were mildly reduced with rolonged implicit times." "16y" "" "blurring of central vision, mild subjective dyschromatopsia and mild nyctalopia" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259549" "04214" "00364211" "01695" "Unknown" "" "A 61-year-old woman presented with decreased central and peripheral vision. Her vision problems began with blurred central vision at age 12 years. Her brother and son were similarly affected. She had noted progression over the previous year with loss of color vision. Visual acuity was CF at 1\' for both eyes with extensive macular RPE and choriocapillaris atrophy. There was grayish mottling with pigment clumping in the periphery of both eyes. ERG testing demonstrated severely subnormal rod and cone responses. The photopic cone responses were nearly indistinguishable above noise whereas only the maximal combined scotopic responses demonstrated recordable (50 _x005F_x0002_V b-wave) waveforms." "12y" "" "blurred central vision" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259550" "04214" "00364212" "01695" "Familial, autosomal recessive" "" "Visual impairment at early age, progressive loss of peripheral visual functions and typical retinal changes of vascular attenuation, disc pallor and bone spicule accumulation." "30y" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000259551" "04214" "00364213" "01695" "Familial, autosomal recessive" "" "Visual impairment at early age, progressive loss of peripheral visual functions and typical retinal changes of vascular attenuation, disc pallor and bone spicule accumulation. Visual acuity: CF 3 feet OD; CF 2 feet OS" "7y" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000259552" "04214" "00364214" "01695" "Familial, autosomal recessive" "" "Visual impairment at early age, progressive loss of peripheral visual functions and typical retinal changes of vascular attenuation, disc pallor and bone spicule accumulation. Visual acuity: CF 5 feet OD; HM OS" "9y" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000259553" "04214" "00364215" "01695" "Familial, autosomal recessive" "" "Visual impairment at early age, progressive loss of peripheral visual functions and typical retinal changes of vascular attenuation, disc pallor and bone spicule accumulation. Visual acuity: 20/20 OD; 20/25 OS;VF , 108 OU" "8y" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000259554" "04214" "00364216" "01695" "Familial, autosomal recessive" "" "Visual impairment at early age, progressive loss of peripheral visual functions and typical retinal changes of vascular attenuation, disc pallor and bone spicule accumulation." "7y" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000259555" "04214" "00364217" "01695" "Unknown" "" "Visual impairment at early age, progressive loss of peripheral visual functions and typical retinal changes of vascular attenuation, disc pallor and bone spicule accumulation." "16y" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000259556" "04214" "00364218" "01695" "Unknown" "" "" "10y" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000259557" "04214" "00364219" "01695" "Unknown" "" "" "12y" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000259558" "04214" "00364220" "01695" "Unknown" "" "" "7y" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000259559" "04214" "00364221" "01695" "Unknown" "" "" "12y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259560" "04214" "00364222" "01695" "Unknown" "" "" "7y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259561" "04214" "00364223" "01695" "Unknown" "" "" "9y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259562" "04214" "00364224" "01695" "Unknown" "" "" "7y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259563" "04214" "00364225" "01695" "Unknown" "" "" "6y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259564" "04214" "00364226" "01695" "Unknown" "" "" "13y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259565" "04214" "00364227" "01695" "Unknown" "" "" "13y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259566" "04214" "00364228" "01695" "Unknown" "" "" "28y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259567" "04214" "00364229" "01695" "Unknown" "" "" "12y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259568" "04214" "00364230" "01695" "Unknown" "" "" "5y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259569" "04214" "00364231" "01695" "Unknown" "" "" "6y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259570" "04214" "00364232" "01695" "Unknown" "" "" "28y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259571" "04214" "00364233" "01695" "Unknown" "" "" "13y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259572" "04214" "00364234" "01695" "Unknown" "" "" "10y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259573" "04214" "00364235" "01695" "Unknown" "" "" "9y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259574" "04214" "00364236" "01695" "Unknown" "" "" "13y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259575" "04214" "00364237" "01695" "Unknown" "" "At the age of 27 they met the criteria for Fishman category III. Their best corrected visual acuity was 0.06 (Snellen) in the right eye and 0.08 in the left. The foveolar thinkness was 43µm in the right eye and 58µm in the left eye. The macular volume was 1.27mm^3 in the right eye and 1.28mm^3 in the left eye." "12y" "" "either patient’s age visual loss first noted or age documented in ophthalmic record first diagnosis" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259576" "04214" "00364238" "01695" "Unknown" "" "At the age of 29 they met the criteria for Fishman category II. Their best corrected visual acuity was 0.17 (Snellen) in the right eye and 0.17 in the left. The foveolar thinkness was 54µm in the right eye and 20µm in the left eye. The macular volume was 1.38mm^3 in the right eye and 1.35mm^3 in the left eye." "21y" "" "either patient’s age visual loss first noted or age documented in ophthalmic record first diagnosis" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259577" "04214" "00364239" "01695" "Unknown" "" "At the age of 22 they met the criteria for Fishman category II. Their best corrected visual acuity was 0.2 (Snellen) in the right eye and 0.33 in the left. The foveolar thinkness was 28µm in the right eye and 77µm in the left eye. The macular volume was 1.64mm^3 in the right eye and 1.68mm^3 in the left eye." "17y" "" "either patient’s age visual loss first noted or age documented in ophthalmic record first diagnosis" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259578" "04214" "00364240" "01695" "Unknown" "" "At the age of 28 they met the criteria for Fishman category III. Their best corrected visual acuity was 0.1 (Snellen) in the right eye and 0.06 in the left. The foveolar thinkness was 71µm in the right eye and 92µm in the left eye. The macular volume was 1.61mm^3 in the right eye and 1.61mm^3 in the left eye." "15y" "" "either patient’s age visual loss first noted or age documented in ophthalmic record first diagnosis" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259579" "04214" "00364241" "01695" "Unknown" "" "At the age of 37 they met the criteria for Fishman category II. Their best corrected visual acuity was 0.1 (Snellen) in the right eye and 0.1 in the left. The foveolar thinkness was 87µm in the right eye and 97µm in the left eye. The macular volume was 1.95mm^3 in the right eye and 1.95mm^3 in the left eye." "22y" "" "either patient’s age visual loss first noted or age documented in ophthalmic record first diagnosis" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259580" "04214" "00364242" "01695" "Unknown" "" "At the age of 32 they met the criteria for Fishman category II. Their best corrected visual acuity was 0.08 (Snellen) in the right eye and 0.08 in the left. The foveolar thinkness was 51µm in the right eye and 32µm in the left eye. The macular volume was 1.59mm^3 in the right eye and 1.66mm^3 in the left eye." "25y" "" "either patient’s age visual loss first noted or age documented in ophthalmic record first diagnosis" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259581" "04214" "00364243" "01695" "Unknown" "" "At the age of 15 they met the criteria for Fishman category II. Their best corrected visual acuity was 0.25 (Snellen) in the right eye and 0.33 in the left. The foveolar thinkness was 67µm in the right eye and 68µm in the left eye. The macular volume was 1.78mm^3 in the right eye and 1.76mm^3 in the left eye." "12y" "" "either patient’s age visual loss first noted or age documented in ophthalmic record first diagnosis" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259582" "04214" "00364244" "01695" "Unknown" "" "At the age of 15 they met the criteria for Fishman category III. Their best corrected visual acuity was 0.2 (Snellen) in the right eye and 0.2 in the left. The foveolar thinkness was 107µm in the right eye and 117µm in the left eye. The macular volume was 1.93mm^3 in the right eye and 1.92mm^3 in the left eye." "9y" "" "either patient’s age visual loss first noted or age documented in ophthalmic record first diagnosis" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259583" "04214" "00364245" "01695" "Unknown" "" "At the age of 37 they met the criteria for Fishman category II. Their best corrected visual acuity was 0.12 (Snellen) in the right eye and 0.16 in the left. The foveolar thinkness was 92µm in the right eye and 46µm in the left eye. The macular volume was 1.55mm^3 in the right eye and 1.59mm^3 in the left eye." "28y" "" "either patient’s age visual loss first noted or age documented in ophthalmic record first diagnosis" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259584" "04214" "00364246" "01695" "Unknown" "" "At the age of 20 they met the criteria for Fishman category III. Their best corrected visual acuity was 0.3 (Snellen) in the right eye and 0.2 in the left. The foveolar thinkness was 49µm in the right eye and 34µm in the left eye. The macular volume was 1.43mm^3 in the right eye and 1.53mm^3 in the left eye." "15y" "" "either patient’s age visual loss first noted or age documented in ophthalmic record first diagnosis" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259585" "04214" "00364247" "01695" "Unknown" "" "At the age of 27 they met the criteria for Fishman category III. Their best corrected visual acuity was 0.1 (Snellen) in the right eye and 0.1 in the left. The foveolar thinkness was 97µm in the right eye and 92µm in the left eye. The macular volume was 1.76mm^3 in the right eye and 1.71mm^3 in the left eye." "22y" "" "either patient’s age visual loss first noted or age documented in ophthalmic record first diagnosis" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259586" "04214" "00364248" "01695" "Unknown" "" "At the age of 28 they met the criteria for Fishman category III. Their best corrected visual acuity was 0.25 (Snellen) in the right eye and 0.1 in the left. The foveolar thinkness was 49µm in the right eye and 46µm in the left eye. The macular volume was 1.83mm^3 in the right eye and 1.86mm^3 in the left eye." "16y" "" "either patient’s age visual loss first noted or age documented in ophthalmic record first diagnosis" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259587" "04214" "00364249" "01695" "Unknown" "" "At the age of 15 they met the criteria for Fishman category II. Their best corrected visual acuity was 0.1 (Snellen) in the right eye and 0.1 in the left. The foveolar thinkness was 28µm in the right eye and 34µm in the left eye. The macular volume was 1.63mm^3 in the right eye and 1.65mm^3 in the left eye." "10y" "" "either patient’s age visual loss first noted or age documented in ophthalmic record first diagnosis" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259588" "04214" "00364250" "01695" "Unknown" "" "At the age of 25 they met the criteria for Fishman category II. Their best corrected visual acuity was 0.2 (Snellen) in the right eye and 0.62 in the left. The foveolar thinkness was 94µm in the right eye and 81µm in the left eye. The macular volume was 1.92mm^3 in the right eye and 1.94mm^3 in the left eye." "23y" "" "either patient’s age visual loss first noted or age documented in ophthalmic record first diagnosis" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259589" "04214" "00364251" "01695" "Unknown" "" "At the age of 18 they met the criteria for Fishman category II. Their best corrected visual acuity was 0.08 (Snellen) in the right eye and 0.1 in the left. The foveolar thinkness was 63µm in the right eye and 72µm in the left eye. The macular volume was 1.4mm^3 in the right eye and 1.43mm^3 in the left eye." "9y" "" "either patient’s age visual loss first noted or age documented in ophthalmic record first diagnosis" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259590" "04214" "00364252" "01695" "Unknown" "" "At the age of 34 they met the criteria for Fishman category III. Their best corrected visual acuity was 0.16 (Snellen) in the right eye and 0.16 in the left. The foveolar thinkness was 16µm in the right eye and 23µm in the left eye. The macular volume was 1.31mm^3 in the right eye and 1.56mm^3 in the left eye." "25y" "" "either patient’s age visual loss first noted or age documented in ophthalmic record first diagnosis" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259591" "04214" "00364253" "01695" "Unknown" "" "At the age of 37 they met the criteria for Fishman category III. Their best corrected visual acuity was 0.1 (Snellen) in the right eye and 0.12 in the left. The foveolar thinkness was 40µm in the right eye and 40µm in the left eye. The macular volume was 1.41mm^3 in the right eye and 1.42mm^3 in the left eye." "15y" "" "either patient’s age visual loss first noted or age documented in ophthalmic record first diagnosis" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259592" "04214" "00364254" "01695" "Unknown" "" "At the age of 24 they met the criteria for Fishman category II. Their best corrected visual acuity was 0.18 (Snellen) in the right eye and 0.18 in the left. The foveolar thinkness was 83µm in the right eye and 100µm in the left eye. The macular volume was 1.72mm^3 in the right eye and 1.77mm^3 in the left eye." "17y" "" "either patient’s age visual loss first noted or age documented in ophthalmic record first diagnosis" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259593" "04214" "00364255" "01695" "Unknown" "" "At the age of 15 they met the criteria for Fishman category III. Their best corrected visual acuity was 0.1 (Snellen) in the right eye and 0.16 in the left. The foveolar thinkness was 38µm in the right eye and 46µm in the left eye. The macular volume was 1.3mm^3 in the right eye and 1.41mm^3 in the left eye." "8y" "" "either patient’s age visual loss first noted or age documented in ophthalmic record first diagnosis" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259594" "04214" "00364256" "01695" "Unknown" "" "At the age of 31 they met the criteria for Fishman category II. Their best corrected visual acuity was 0.1 (Snellen) in the right eye and 0.1 in the left. The foveolar thinkness was 41µm in the right eye and 44µm in the left eye. The macular volume was 1.95mm^3 in the right eye and 1.96mm^3 in the left eye." "17y" "" "either patient’s age visual loss first noted or age documented in ophthalmic record first diagnosis" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259595" "04214" "00364257" "01695" "Unknown" "" "At the age of 28 they met the criteria for Fishman category II. Their best corrected visual acuity was 0.33 (Snellen) in the right eye and 0.56 in the left. The foveolar thinkness was 91µm in the right eye and 129µm in the left eye. The macular volume was 1.98mm^3 in the right eye and 2.04mm^3 in the left eye." "22y" "" "either patient’s age visual loss first noted or age documented in ophthalmic record first diagnosis" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259596" "04214" "00364258" "01695" "Unknown" "" "At the age of 32 they met the criteria for Fishman category II. Their best corrected visual acuity was 0.2 (Snellen) in the right eye and 0.2 in the left. The foveolar thinkness was 92µm in the right eye and 86µm in the left eye. The macular volume was 1.8mm^3 in the right eye and 1.75mm^3 in the left eye." "17y" "" "either patient’s age visual loss first noted or age documented in ophthalmic record first diagnosis" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259597" "04214" "00364259" "01695" "Unknown" "" "At the age of 19 they met the criteria for Fishman category III. Their best corrected visual acuity was 0.1 (Snellen) in the right eye and 0.1 in the left. The foveolar thinkness was 62µm in the right eye and 53µm in the left eye. The macular volume was 1.67mm^3 in the right eye and 1.65mm^3 in the left eye." "13y" "" "either patient’s age visual loss first noted or age documented in ophthalmic record first diagnosis" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259598" "04214" "00364260" "01695" "Familial, autosomal recessive" "" "visual acuities of 20/200 OD and 20/150OS, characteristic retinal findings, Goldmann visual fields confirmed bilateral central scotomas, and a standard electroretinogram was normal" "<15y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259599" "04214" "00364261" "01695" "Unknown" "" "Fundus examination of a 20-year-old healthy man showed typical fundus manifestation with yellowish-round or fish-like flecks associated with vitreous macular adhesion and a round punched-out area in the right eye. Optical coherence tomography (OCT) illustrated a full-thickness macular hole. On examination, the best-corrected visual acuity was 20/800 in both eyes. Examination of the anterior segments was unremarkable in both eyes. The Goldmann applanation tonometer measured 14 mmHg in the right and 16 mmHg in the left eye respectively. No signs of ocular inflammation were detected. Ophthalmoscopy of the right eye showed an epiretinal membrane determining a strong vitreous macular adhesion associated with a round punched-out area, about one-third of the disc diameter, in the center of the macula." "14y" "" "central visual loss in both eyes" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259600" "04214" "00364262" "01695" "Familial, autosomal recessive" "" "Meeting CRD criteria from Klevering et al., 2002" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000259601" "04214" "00364263" "01695" "Familial, autosomal recessive" "" "Meeting CRD criteria from Klevering et al., 2002" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000259602" "04214" "00364264" "01695" "Familial, autosomal recessive" "" "Meeting CRD criteria from Klevering et al., 2002" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000259603" "04214" "00364265" "01695" "Familial, autosomal recessive" "" "Meeting CRD criteria from Klevering et al., 2002" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000259604" "04214" "00364266" "01695" "Familial, autosomal recessive" "" "Meeting CRD criteria from Klevering et al., 2002" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000259605" "04214" "00364267" "01695" "Familial, autosomal recessive" "" "Typical STGD disease, that is, without extension of the disease to the peripheral retina. Less severely affected than her family members." "<34y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259606" "04214" "00364268" "01695" "Familial, autosomal recessive" "" "Meeting CRD criteria from Klevering et al., 2002" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000259607" "04214" "00364269" "01695" "Familial, autosomal recessive" "" "Meeting CRD criteria from Klevering et al., 2002" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000259608" "04214" "00364270" "01695" "Familial, autosomal recessive" "" "She displays typical signs of STGD1 with decrease of central visual acuity, dark choroid and fundus flavimaculatus at the fluorescein angiography." "<11y" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000259609" "04214" "00364271" "01695" "Familial, autosomal recessive" "" "no symptoms yet at the age of 3" "" "" "unknown" "" "" "" "" "" "" "likely will develop STGD1" ""
"0000259610" "04214" "00364272" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259611" "04214" "00364273" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259612" "04214" "00364274" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259613" "04214" "00364275" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259614" "04214" "00364276" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259615" "04214" "00364277" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259616" "04214" "00364278" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259617" "04214" "00364279" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259618" "04214" "00364280" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259619" "04214" "00364281" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259620" "04214" "00364282" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259621" "04214" "00364283" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259622" "04214" "00364284" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259623" "04214" "00364285" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259624" "04214" "00364286" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259625" "04214" "00364287" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259626" "04214" "00364288" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259627" "04214" "00364289" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259628" "04214" "00364290" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259629" "04214" "00364291" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259630" "04214" "00364292" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259631" "04214" "00364293" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259632" "04214" "00364294" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259633" "04214" "00364295" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259634" "04214" "00364296" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259635" "04214" "00364297" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259636" "04214" "00364298" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259637" "04214" "00364299" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259638" "04214" "00364300" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259639" "04214" "00364301" "01695" "Unknown" "" "At the age of 14: STGD1 with relatively spared foveal function in at least one eye. Visual acuity was 20/32 (right eye) and 20/32 (left eye). Refraction (spherical equivalent) was ?0.50 (right eye) and ?0.50 (left eye). Kinetic visual field extend (V-4e) was 109 (right eye) and 105 (left eye)." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259640" "04214" "00364302" "01695" "Unknown" "" "At the age of 17: STGD1 with relatively spared foveal function in at least one eye. Visual acuity was 20/25 (right eye) and 20/25 (left eye). Refraction (spherical equivalent) was ?1.00 (right eye) and ?1.25 (left eye). Kinetic visual field extend (V-4e) was 103 (right eye) and 104 (left eye)." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259641" "04214" "00364303" "01695" "Unknown" "" "At the age of 19: CRD with relatively spared foveal function in at least one eye. Visual acuity was 20/40 (right eye) and 20/50 (left eye). Refraction (spherical equivalent) was 0.25 (right eye) and 0.25 (left eye). Kinetic visual field extend (V-4e) was 90 (right eye) and 93 (left eye)." "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000259642" "04214" "00364304" "01695" "Unknown" "" "At the age of 21: STGD1 with relatively spared foveal function in at least one eye. Visual acuity was 20/25 (right eye) and 20/25 (left eye). Refraction (spherical equivalent) was ?0.75 (right eye) and ?0.25 (left eye). Kinetic visual field extend (V-4e) was 103 (right eye) and 107 (left eye)." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259643" "04214" "00364305" "01695" "Unknown" "" "At the age of 24: STGD1 with relatively spared foveal function in at least one eye. Visual acuity was 20/50 (right eye) and 20/200 (left eye). Refraction (spherical equivalent) was ?1.25 (right eye) and ?1.50 (left eye). Kinetic visual field extend (V-4e) was 112 (right eye) and 105 (left eye)." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259644" "04214" "00364306" "01695" "Unknown" "" "At the age of 30: STGD1 with relatively spared foveal function in at least one eye. Visual acuity was 20/20 (right eye) and 20/32 (left eye). Refraction (spherical equivalent) was ?2.25 (right eye) and ?3.50 (left eye). Kinetic visual field extend (V-4e) was 99 (right eye) and 93 (left eye)." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259645" "04214" "00364307" "01695" "Unknown" "" "At the age of 32: STGD1 with relatively spared foveal function in at least one eye. Visual acuity was 20/32 (right eye) and 20/40 (left eye). Refraction (spherical equivalent) was ?0.75 (right eye) and ?1.25 (left eye). Kinetic visual field extend (V-4e) was 103 (right eye) and 92 (left eye)." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259646" "04214" "00364308" "01695" "Unknown" "" "At the age of 34: STGD1 with relatively spared foveal function in at least one eye. Visual acuity was 20/20 (right eye) and 20/20 (left eye). Refraction (spherical equivalent) was ?1.50 (right eye) and ?1.75 (left eye). Kinetic visual field extend (V-4e) was 110 (right eye) and 96 (left eye)." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259647" "04214" "00364309" "01695" "Unknown" "" "At the age of 37: STGD1 with relatively spared foveal function in at least one eye. Visual acuity was 20/32 (right eye) and 20/25 (left eye). Refraction (spherical equivalent) was ?3.00 (right eye) and ?2.00 (left eye). Kinetic visual field extend (V-4e) was 99 (right eye) and 105 (left eye)." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259648" "04214" "00364310" "01695" "Unknown" "" "At the age of 38: STGD1 with relatively spared foveal function in at least one eye. Visual acuity was 20/25 (right eye) and 20/25 (left eye). Refraction (spherical equivalent) was ?1.00 (right eye) and ?1.25 (left eye). Kinetic visual field extend (V-4e) was 106 (right eye) and 101 (left eye)." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259649" "04214" "00364311" "01695" "Unknown" "" "At the age of 42: STGD1 with relatively spared foveal function in at least one eye. Visual acuity was 20/25 (right eye) and 20/32 (left eye). Refraction (spherical equivalent) was ?0.50 (right eye) and ?0.75 (left eye). Kinetic visual field extend (V-4e) was 107 (right eye) and 94 (left eye)." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259650" "04214" "00364312" "01695" "Unknown" "" "At the age of 47: STGD1 with relatively spared foveal function in at least one eye. Visual acuity was 20/32 (right eye) and 20/20 (left eye). Refraction (spherical equivalent) was 0.75 (right eye) and 0.25 (left eye). Kinetic visual field extend (V-4e) was 108 (right eye) and 103 (left eye)." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259651" "04214" "00364313" "01695" "Unknown" "" "At the age of 56: STGD1 with relatively spared foveal function in at least one eye. Visual acuity was 20/25 (right eye) and 20/25 (left eye). Refraction (spherical equivalent) was ?5.50 (right eye) and ?5.50 (left eye). Kinetic visual field extend (V-4e) was 99 (right eye) and 109 (left eye)." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259652" "04214" "00364314" "01695" "Unknown" "" "At the age of 21, this patients\' visual acuity was 20/100 for the right eye and 20/100 for the left eye. Refractions were +0.00 for the right eye and +0.25 for the left eye." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259653" "04214" "00364315" "01695" "Unknown" "" "At the age of 32 the right eye had been affected for 2 years. Its BCVA was 0.4. The fixation locus was 0 degrees. The fixation stability was 90%. The bivariate contour ellipse area was 211 (arc min^2). There was/were 1 preferred retinal locus/loci. The left eye had been affected for 2 years. Its BCVA was 0.6. The fixation locus was 0 degrees. The fixation stability was 90%. The bivariate contour ellipse area was 181.6 (arc min^2). There was/were 1 preferred retinal locus/loci." "30y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259654" "04214" "00364316" "01695" "Unknown" "" "At the age of 38 the right eye had been affected for 16 years. Its BCVA was 0.05. The fixation locus was 6.4 degrees. The fixation stability was 73.7%. The bivariate contour ellipse area was 4962.8 (arc min^2). There was/were 1 preferred retinal locus/loci. The left eye had been affected for 7 years. Its BCVA was 0.4. The fixation locus was 0 degrees. The fixation stability was 90.9%. The bivariate contour ellipse area was 143.5 (arc min^2). There was/were 1 preferred retinal locus/loci." "22y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259655" "04214" "00364317" "01695" "Unknown" "" "At the age of 23 the right eye had been affected for 7 years. Its BCVA was 0.1. The fixation locus was 5.7 degrees. The fixation stability was 81.8%. The bivariate contour ellipse area was 664.3 (arc min^2). There was/were 1 preferred retinal locus/loci. The left eye had been affected for 6 years. Its BCVA was 0.1. The fixation locus was 7 degrees. The fixation stability was 80.6%. The bivariate contour ellipse area was 594.2 (arc min^2). There was/were 1 preferred retinal locus/loci." "16y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259656" "04214" "00364318" "01695" "Unknown" "" "At the age of 16 the right eye had been affected for 7 years. Its BCVA was 0.05. The fixation locus was 7.4 degrees. The fixation stability was 81%. The bivariate contour ellipse area was 1052 (arc min^2). There was/were 1 preferred retinal locus/loci. The left eye had been affected for 7 years. Its BCVA was 0.05. The fixation locus was 5 degrees. The fixation stability was 73.3%. The bivariate contour ellipse area was 11500 (arc min^2). There was/were 1 preferred retinal locus/loci." "9y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259657" "04214" "00364319" "01695" "Unknown" "" "At the age of 46 the right eye had been affected for 14 years. Its BCVA was 0.5. The fixation locus was 3.6 degrees. The fixation stability was 80.6%. The bivariate contour ellipse area was 3986.2 (arc min^2). There was/were 1 preferred retinal locus/loci. The left eye had been affected for 14 years. Its BCVA was 0.2. The fixation locus was 3.7 degrees. The fixation stability was 58.3%. The bivariate contour ellipse area was 40731.5 (arc min^2). There was/were 1 preferred retinal locus/loci." "32y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259658" "04214" "00364320" "01695" "Unknown" "" "At the age of 26 the right eye had been affected for 15 years. Its BCVA was 0.1. The fixation locus was 6 degrees. The fixation stability was 70.5%. The bivariate contour ellipse area was 3215.2 (arc min^2). There was/were 1 preferred retinal locus/loci. The left eye had been affected for 15 years. Its BCVA was 0.1. The fixation locus was 8.5 degrees. The fixation stability was 56.5%. The bivariate contour ellipse area was 14734.9 (arc min^2). There was/were 1 preferred retinal locus/loci." "11y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259659" "04214" "00364321" "01695" "Unknown" "" "At the age of 19 the right eye had been affected for 2 years. Its BCVA was 0.1. The fixation locus was 7.9 degrees. The fixation stability was 65.7%. The bivariate contour ellipse area was 3260 (arc min^2). There was/were 1 preferred retinal locus/loci. The left eye had been affected for 2 years. Its BCVA was 0.1. The fixation locus was 7 degrees. The fixation stability was 63.9%. The bivariate contour ellipse area was 2964.8 (arc min^2). There was/were 1 preferred retinal locus/loci." "17y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259660" "04214" "00364322" "01695" "Unknown" "" "At the age of 34 the right eye had been affected for 30 years. Its BCVA was 0.4. The fixation locus was 0 degrees. The fixation stability was 88.2%. The bivariate contour ellipse area was 234.1 (arc min^2). There was/were 1 preferred retinal locus/loci. The left eye had been affected for 30 years. Its BCVA was 0.4. The fixation locus was 0 degrees. The fixation stability was 87.9%. The bivariate contour ellipse area was 350 (arc min^2). There was/were 1 preferred retinal locus/loci." "4y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259661" "04214" "00364323" "01695" "Unknown" "" "At the age of 59 the right eye had been affected for 5 years. Its BCVA was 0.1. The fixation locus was 5.2 degrees. The fixation stability was 79.2%. The bivariate contour ellipse area was 1715.5 (arc min^2). There was/were 1 preferred retinal locus/loci. The left eye had been affected for 5 years. Its BCVA was 0.1. The fixation locus was 4.4 degrees. The fixation stability was 75%. The bivariate contour ellipse area was 3839.5 (arc min^2). There was/were 1 preferred retinal locus/loci." "54y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259662" "04214" "00364324" "01695" "Unknown" "" "At the age of 32 the right eye had been affected for 10 years. Its BCVA was 0.05. The fixation locus was 6.5 degrees. The fixation stability was 61.3%. The bivariate contour ellipse area was 10195.5 (arc min^2). There was/were 1 preferred retinal locus/loci. The left eye had been affected for 10 years. Its BCVA was 0.05. The fixation locus was 5 degrees. The fixation stability was 56.7%. The bivariate contour ellipse area was 7560.7 (arc min^2). There was/were 1 preferred retinal locus/loci." "22y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259663" "04214" "00364325" "01695" "Unknown" "" "At the age of 46 the right eye had been affected for 4 years. Its BCVA was 0.05. The fixation locus was 8.5 degrees. The fixation stability was 51.1%. The bivariate contour ellipse area was 8641.6 (arc min^2). There was/were 1 preferred retinal locus/loci. The left eye had been affected for 4 years. Its BCVA was 0.3. The fixation locus was 5 degrees. The fixation stability was 51.1%. The bivariate contour ellipse area was 19827.1 (arc min^2). There was/were 1 preferred retinal locus/loci." "42y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259664" "04214" "00364326" "01695" "Unknown" "" "At the age of 31 the right eye had been affected for 27 years. Its BCVA was 42005. The fixation locus was 9.8 degrees. The fixation stability was 69.3%. The bivariate contour ellipse area was 2268.5 (arc min^2). There was/were 1 preferred retinal locus/loci. The left eye had been affected for 27 years. Its BCVA was 0.1. The fixation locus was 17.2 degrees. The fixation stability was 60.9%. The bivariate contour ellipse area was 4237 (arc min^2). There was/were 1 preferred retinal locus/loci." "4y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259665" "04214" "00364327" "01695" "Unknown" "" "At the age of 16 the right eye had been affected for 5 years. Its BCVA was 0.1. The fixation locus was 6 degrees. The fixation stability was 75.8%. The bivariate contour ellipse area was 708 (arc min^2). There was/were 1 preferred retinal locus/loci. The left eye had been affected for 5 years. Its BCVA was 0.1. The fixation locus was 5.4 degrees. The fixation stability was 82.4%. The bivariate contour ellipse area was 449.6 (arc min^2). There was/were 1 preferred retinal locus/loci." "11y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259666" "04214" "00364328" "01695" "Unknown" "" "At the age of 40 the right eye had been affected for 6 years. Its BCVA was 0.05. The fixation locus was 16.6 degrees. The fixation stability was 60.8%. The bivariate contour ellipse area was 11677.8 (arc min^2). There was/were 1 preferred retinal locus/loci. The left eye had been affected for 6 years. Its BCVA was 0.1. The fixation locus was 10 degrees. The fixation stability was 60.6%. The bivariate contour ellipse area was 5134.5 (arc min^2). There was/were 1 preferred retinal locus/loci." "34y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259667" "04214" "00364329" "01695" "Unknown" "" "At the age of 24 the right eye had been affected for 3 years. Its BCVA was 0.1. The fixation locus was 6.7 degrees. The fixation stability was 90.5%. The bivariate contour ellipse area was 577.8 (arc min^2). There was/were 1 preferred retinal locus/loci. The left eye had been affected for 3 years. Its BCVA was 0.1. The fixation locus was 7.1 degrees. The fixation stability was 83.6%. The bivariate contour ellipse area was 3015.2 (arc min^2). There was/were 1 preferred retinal locus/loci." "21y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259668" "04214" "00364330" "01695" "Unknown" "" "At the age of 27 the right eye had been affected for 20 years. Its BCVA was 0.1. The fixation locus was 6.7 degrees. The fixation stability was 88.2%. The bivariate contour ellipse area was 183.6 (arc min^2). There was/were 1 preferred retinal locus/loci. The left eye had been affected for 20 years. Its BCVA was 0.1. The fixation locus was 10.9 degrees. The fixation stability was 81%. The bivariate contour ellipse area was 448.2 (arc min^2). There was/were 1 preferred retinal locus/loci." "7y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259669" "04214" "00364331" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259670" "04214" "00364332" "01695" "Familial, autosomal recessive" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000259671" "04214" "00364333" "01695" "Familial, autosomal recessive" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000259672" "04214" "00364334" "01695" "Familial, autosomal recessive" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000259673" "04214" "00364335" "01695" "Familial, autosomal recessive" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000259674" "04214" "00364336" "01695" "Familial, autosomal recessive" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000259675" "04214" "00364337" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259676" "04214" "00364338" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259677" "04214" "00364339" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000259678" "04214" "00364340" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000259679" "04214" "00364341" "01695" "Familial, autosomal recessive" "" "Best-corrected visual acuity was 6/9 in the right and 6/30 in the left eye. Fundus examinations revealed a macular atrophy surrounded by widespread flecks. Moreover, in the right eye, a whitish, gelatinous, well-circumscribed elevated lesion was detectable arising in the inferotemporal area of the retina. Fluorescein angiography confirmed a macular ovoid zone of hyperfluorescence caused by severe atrophy of the retinal pigment epithelium more pronounced in the left eye. The typical feature of dark choroid was not noticeable. In the right eye, a pinpoint area of hyperfuorescence corresponded to the lesion in thearterial phase. A diffuse homogeneous hyperfluorescence (staining) of the mass in the late phase followed. Photopic and scotopic electroretinography findings were within normal limits." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259680" "04214" "00364342" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259681" "04214" "00364343" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259682" "04214" "00364344" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "macular dystrophy" ""
"0000259683" "04214" "00364345" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "macular dystrophy" ""
"0000259684" "04214" "00364346" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "macular dystrophy" ""
"0000259685" "04214" "00364347" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "macular dystrophy" ""
"0000259686" "04214" "00364348" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "macular dystrophy" ""
"0000259687" "04214" "00364349" "01695" "Unknown" "" "A 55-year-old male was examined for long-standing central visual impairment since age 18. Family history was not significant for ocular disease. His best-corrected visual acuity of 20/350 OD and 20/200 OS was consistent with measurements over the last 20 years. Spherical refractive error measured ?3.5 OD and ?2.0 OS. Anterior segment examination was unremarkable and applanation tonometry measured 17 mmHg OD and 14 mmHg OS. Posterior segment examination and autofluorescence imaging were significant for sharply demarcated central and peripapillary zones of atrophy and the absence of fleck lesions. Humphrey visual fields demonstrated bilateral central scotomas with eccentric fixation at the inferior border. ERG examination was subnormal and similar to results obtained 22 years ago." "18y" "" "long-standing central visual impairment" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259688" "04214" "00364350" "01695" "Unknown" "" "A 19-year-old female referred for consultation for difficulty reading, particularly in dim light. She was clinically diagnosed with STGD 3 month prior, after complaining of gradual difficulty in focusing. Family history was not significant for ocular disease. Visual acuity measured 20/40 OD and 20/150 OS. Slit-lamp examination was unremarkable with normal anterior segments and applanation tensions of 14 mmHg OU. Funduscopic exam revealed bilateral central atrophy, multiple fleck lesions, multiple clumps of yellowish deposits at the level of the retinal pigment epithelium in the posterior pole surrounded with some pigment clumping, and no evidence of atrophy of the retinal pigment epithelium. Autofluorescence imaging revealed multifocal atrophic lesions involving the central macula and peripheral hyperautofluorescent flecks OU. The peripapillary regions demonstrated atrophic flecks OU without confluent atrophy." "18y" "" "difficulty reading, especially in dim light" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259689" "04214" "00364351" "01695" "Unknown" "" "A 15-year-old female presented with complaints of difficulty reading materials held greater than 6 inches from her eyes. She was clinically diagnosed with STGD 4 years prior and noted decreased visual acuity since age seven, which stabilized over the past few years. Family history was not significant for ocular disease. Best-corrected visual acuity was 20/150 OU. Anterior segment exam was unremarkable with applanation tonometry measuring 16 mmHg OU. Posterior segment exam and autofluorescence was significant for bilateral central atrophy and pisciform fleck atrophy involving the peripapillary, macular, and peripheral regions OU." "7y" "" "decreased visual acuity" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259690" "04214" "00364352" "01695" "Unknown" "" "A 52-year-old male was examined for declining vision OS over the past few months. He was previously clinically diagnosed with STGD 7 years before presentation. Family history was not significant for ocular disease. Best-corrected visual acuity measured 20/100 OD and 20/70 OS. Spherical refractive error measured ?3.00 OD and ?3.25 OS. Anterior segment examination was unremarkable and applanation tonometry measured 17 mmHg OD and 14 mmHg OS. Posterior segment examination was significant for central atrophy and classic peripheral pisciform flecks sparing the peripapillary regions OU. Autofluorescence imaging demonstrated inner atrophic flecks and outer hyperautofluorescent flecks. Moderate peripapillary hypoautofluorescence, but not atrophy, was present, likely secondary to the patient’s myopia." "45y" "" "STGD1 diagnosis" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259691" "04214" "00364353" "01695" "Unknown" "" "A 46-year-old male was examined for visual acuity loss starting at age 17. His family history was significant for visual acuity loss by his brother and father during the second decade of life without known etiology. Genotype and phenotype data were not available. In addition, the patient’s son was diagnosed with STGD with symptoms beginning at age 14. Best-corrected visual acuity measured 20/400 bilaterally. Anterior segment examination was unremarkable and applanation tonometry measured 12 mmHg OD and 13 mmHg OS. Posterior segment examination and autofluorescence imaging were significant for multifocal small atrophic lesions confined to the fovea OU and normal peripapillary regions." "17y" "" "visual acuity loss" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259692" "04214" "00364354" "01695" "Unknown" "" "" "14y" "" "symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259693" "04214" "00364355" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259694" "04214" "00364356" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259695" "04214" "00364357" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259696" "04214" "00364358" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259697" "04214" "00364359" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259698" "04214" "00364360" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259699" "04214" "00364361" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259700" "04214" "00364362" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259701" "04214" "00364363" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259702" "04214" "00364364" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259703" "04214" "00364365" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259704" "04214" "00364366" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259705" "04214" "00364367" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259706" "04214" "00364368" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259707" "04214" "00364369" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259708" "04214" "00364370" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259709" "04214" "00364371" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259710" "04214" "00364372" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259711" "04214" "00364373" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259712" "04214" "00364374" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259713" "04214" "00364375" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259714" "04214" "00364376" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259715" "04214" "00364377" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259716" "04214" "00364378" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259717" "04214" "00364379" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259718" "04214" "00364380" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259719" "04214" "00364381" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259720" "04214" "00364382" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259721" "04214" "00364383" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259722" "04214" "00364384" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259723" "04214" "00364385" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259724" "04214" "00364386" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259725" "04214" "00364387" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259726" "04214" "00364388" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259727" "04214" "00364389" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259728" "04214" "00364390" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259729" "04214" "00364391" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259730" "04214" "00364392" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259731" "04214" "00364393" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259732" "04214" "00364394" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259733" "04214" "00364395" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259734" "04214" "00364396" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259735" "04214" "00364397" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259736" "04214" "00364398" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259737" "04214" "00364399" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259738" "04214" "00364400" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259739" "04214" "00364401" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259740" "04214" "00364402" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259741" "04214" "00364403" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259742" "04214" "00364404" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259743" "04214" "00364405" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259744" "04214" "00364406" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259745" "04214" "00364407" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259746" "04214" "00364408" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259747" "04214" "00364409" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259748" "04214" "00364410" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259749" "04214" "00364411" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259750" "04214" "00364412" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259751" "04214" "00364413" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259752" "04214" "00364414" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259753" "04214" "00364415" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259754" "04214" "00364416" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259755" "04214" "00364417" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259756" "04214" "00364418" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259757" "04214" "00364419" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259758" "04214" "00364420" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259759" "04214" "00364421" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259760" "04214" "00364422" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259761" "04214" "00364423" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259762" "04214" "00364424" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259763" "04214" "00364425" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259764" "04214" "00364426" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259765" "04214" "00364427" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259766" "04214" "00364428" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259767" "04214" "00364429" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259768" "04214" "00364430" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259769" "04214" "00364431" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259770" "04214" "00364432" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259771" "04214" "00364433" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259772" "04214" "00364434" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259773" "04214" "00364435" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259774" "04214" "00364436" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259775" "04214" "00364437" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259776" "04214" "00364438" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259777" "04214" "00364439" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259778" "04214" "00364440" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259779" "04214" "00364441" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259780" "04214" "00364442" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259781" "04214" "00364443" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259782" "04214" "00364444" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259783" "04214" "00364445" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259784" "04214" "00364446" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259785" "04214" "00364447" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259786" "04214" "00364448" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259787" "04214" "00364449" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259788" "04214" "00364450" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259789" "04214" "00364451" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259790" "04214" "00364452" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259791" "04214" "00364453" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259792" "04214" "00364454" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259793" "04214" "00364455" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259794" "04214" "00364456" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259795" "04214" "00364457" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259796" "04214" "00364458" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259797" "04214" "00364459" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259798" "04214" "00364460" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259799" "04214" "00364461" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259800" "04214" "00364462" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259801" "04214" "00364463" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259802" "04214" "00364464" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259803" "04214" "00364465" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259804" "04214" "00364466" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259805" "04214" "00364467" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259806" "04214" "00364468" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259807" "04214" "00364469" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259808" "04214" "00364470" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259809" "04214" "00364471" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259810" "04214" "00364472" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259811" "04214" "00364473" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259812" "04214" "00364474" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259813" "04214" "00364475" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259814" "04214" "00364476" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259815" "04214" "00364477" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259816" "04214" "00364478" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259817" "04214" "00364479" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259818" "04214" "00364480" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259819" "04214" "00364481" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259820" "04214" "00364482" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259821" "04214" "00364483" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259822" "04214" "00364484" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259823" "04214" "00364485" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259824" "04214" "00364486" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259825" "04214" "00364487" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259826" "04214" "00364488" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259827" "04214" "00364489" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259828" "04214" "00364490" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259829" "04214" "00364491" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259830" "04214" "00364492" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259831" "04214" "00364493" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259832" "04214" "00364494" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259833" "04214" "00364495" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259834" "04214" "00364496" "01695" "Familial, autosomal recessive" "" "Diagnosis of STGD was determined according to a bilateral central vision loss with a beatenbronze appearance and/or the presence of orange-yellow flecks in the retina from the posterior pole to the mid-periphery; typical dark choroid observed by fluorescein angiography; and normal to subnormal electroretinograms (ERGs). At the age of 15 the visual acuity was 0.2 OD an d 0.16OS." "13y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259835" "04214" "00364497" "01695" "Unknown" "" "Diagnosis of STGD was determined according to a bilateral central vision loss with a beatenbronze appearance and/or the presence of orange-yellow flecks in the retina from the posterior pole to the mid-periphery; typical dark choroid observed by fluorescein angiography; and normal to subnormal electroretinograms (ERGs). At the age of 50 the visual acuity was 0.1 OD an d 0.1OS." "16y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259836" "04214" "00364498" "01695" "Unknown" "" "Diagnosis of STGD was determined according to a bilateral central vision loss with a beatenbronze appearance and/or the presence of orange-yellow flecks in the retina from the posterior pole to the mid-periphery; typical dark choroid observed by fluorescein angiography; and normal to subnormal electroretinograms (ERGs). At the age of 27 the visual acuity was 0.1 OD an d 0.1OS." "19y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259837" "04214" "00364499" "01695" "Unknown" "" "Diagnosis of STGD was determined according to a bilateral central vision loss with a beatenbronze appearance and/or the presence of orange-yellow flecks in the retina from the posterior pole to the mid-periphery; typical dark choroid observed by fluorescein angiography; and normal to subnormal electroretinograms (ERGs). At the age of 40 the visual acuity was NA OD an d OS." "30y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259838" "04214" "00364500" "01695" "Unknown" "" "Diagnosis of STGD was determined according to a bilateral central vision loss with a beatenbronze appearance and/or the presence of orange-yellow flecks in the retina from the posterior pole to the mid-periphery; typical dark choroid observed by fluorescein angiography; and normal to subnormal electroretinograms (ERGs). At the age of 49 the visual acuity was 0.05 OD an d 0.05OS." "23y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259839" "04214" "00364501" "01695" "Unknown" "" "Diagnosis of STGD was determined according to a bilateral central vision loss with a beatenbronze appearance and/or the presence of orange-yellow flecks in the retina from the posterior pole to the mid-periphery; typical dark choroid observed by fluorescein angiography; and normal to subnormal electroretinograms (ERGs). At the age of 35 the visual acuity was 0.1 OD an d 0.1OS." "15y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259840" "04214" "00364502" "01695" "Unknown" "" "Diagnosis of STGD was determined according to a bilateral central vision loss with a beatenbronze appearance and/or the presence of orange-yellow flecks in the retina from the posterior pole to the mid-periphery; typical dark choroid observed by fluorescein angiography; and normal to subnormal electroretinograms (ERGs). At the age of 42 the visual acuity was NA OD an d OS." "39y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259841" "04214" "00364503" "01695" "Unknown" "" "Diagnosis of STGD was determined according to a bilateral central vision loss with a beatenbronze appearance and/or the presence of orange-yellow flecks in the retina from the posterior pole to the mid-periphery; typical dark choroid observed by fluorescein angiography; and normal to subnormal electroretinograms (ERGs). At the age of 26 the visual acuity was NA OD an d OS." "23y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259842" "04214" "00364504" "01695" "Unknown" "" "Diagnosis of STGD was determined according to a bilateral central vision loss with a beatenbronze appearance and/or the presence of orange-yellow flecks in the retina from the posterior pole to the mid-periphery; typical dark choroid observed by fluorescein angiography; and normal to subnormal electroretinograms (ERGs). At the age of NA the visual acuity was NA OD an d OS." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259843" "04214" "00364505" "01695" "Unknown" "" "Diagnosis of CRD was based in initial complaints of blurred central vision without a history of night blindness, poor visual acuity, impairment of colour vision, funduscopic evidence of atrophic macular degeneration, peripheral disturbances including pigment clumping and/or pigment epithelial thinning, and greater or earlier loss of cone than rod ERG amplitude. At the age of 59 the visual acuity was 0.05 OD an d 0.05OS." "46y" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000259844" "04214" "00364506" "01695" "Unknown" "" "Diagnosis of CRD was based in initial complaints of blurred central vision without a history of night blindness, poor visual acuity, impairment of colour vision, funduscopic evidence of atrophic macular degeneration, peripheral disturbances including pigment clumping and/or pigment epithelial thinning, and greater or earlier loss of cone than rod ERG amplitude. At the age of 27 the visual acuity was 0.9 OD an d 0.7OS." "15y" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000259845" "04214" "00364507" "01695" "Unknown" "" "RP was diagnosed in patients who developed night blindness early in life, peripheral vision loss, pigmentary retinal degeneration and markedly reduced scotopic ERG. At the age of 38 the visual acuity was 0.05 OD an d 0.05OS." "20y" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000259846" "04214" "00364508" "01695" "Unknown" "" "RP was diagnosed in patients who developed night blindness early in life, peripheral vision loss, pigmentary retinal degeneration and markedly reduced scotopic ERG. At the age of 53 the visual acuity was 0.1 OD an d 0.1OS." "10y" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000259847" "04214" "00364509" "01695" "Unknown" "" "RP was diagnosed in patients who developed night blindness early in life, peripheral vision loss, pigmentary retinal degeneration and markedly reduced scotopic ERG. At the age of 37 the visual acuity was 0.2 OD an d 0.6OS." "6y" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000259848" "04214" "00364510" "01695" "Unknown" "" "At the age of 34 visual acuity was 0.05 (right eye) and 0.05 (left eye). Full field ERG (dark / light adaptation): dark adaptation and light adaptation markedly reduced. No recordable potentials fundus autofluorescensce/near infrared autofluorescence alterations extending past vascular arcades." "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000259849" "04214" "00364511" "01695" "Unknown" "" "At the age of 53 visual acuity was 0.5 (right eye) and 0.7 (left eye). Full field ERG (dark / light adaptation): dark adaptation and light adaptation moderately reduced. Pericentral amplitude reduction fundus autofluorescensce/near infrared autofluorescence alterations extending past vascular arcades." "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000259850" "04214" "00364512" "01695" "Unknown" "" "At the age of 54 visual acuity was 0.1 (right eye) and 0.16 (left eye). Full field ERG (dark / light adaptation): dark adaptation and light adaptation moderately reduced. Not done fundus autofluorescensce/near infrared autofluorescence alterations extending past vascular arcades." "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000259851" "04214" "00364513" "01695" "Unknown" "" "At the age of 44 visual acuity was 0.6 (right eye) and 0.7 (left eye). Full field ERG (dark / light adaptation): dark adaptation and light adaptation borderline Central amplitude reduction. fundus autofluorescensce/near infrared autofluorescence alterations extending past vascular arcades." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259852" "04214" "00364514" "01695" "Unknown" "" "At the age of 72 visual acuity was 0.4 (right eye) and 0.5 (left eye). Full field ERG (dark / light adaptation): dark adaptation: mildly and light adaptation: moderately reduced. Central amplitude reduction fundus autofluorescensce/near infrared autofluorescence alterations extending past vascular arcades." "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000259853" "04214" "00364515" "01695" "Unknown" "" "At the age of 67 visual acuity was 0.6 (right eye) and 0.04 (left eye). Full field ERG (dark / light adaptation): dark adaptation and light adaptation moderately reduced. Central amplitude reduction fundus autofluorescensce/near infrared autofluorescence alterations extending past vascular arcades." "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000259854" "04214" "00364516" "01695" "Unknown" "" "At the age of 44 visual acuity was 1 (right eye) and 1 (left eye). Full field ERG (dark / light adaptation): dark adaptation: mildly and light adaptation: moderately reduced. Pericentral amplitude reduction fundus autofluorescensce/near infrared autofluorescence alterations extending past vascular arcades." "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000259855" "04214" "00364517" "01695" "Unknown" "" "At the age of 42 visual acuity was 0.16 (right eye) and 0.16 (left eye). Full field ERG (dark / light adaptation): Normal Central amplitude reduction. fundus autofluorescensce/near infrared autofluorescence alterations confined to the macula." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259856" "04214" "00364518" "01695" "Unknown" "" "At the age of 37 visual acuity was 0.1 (right eye) and 0.1 (left eye). Full field ERG (dark / light adaptation): Normal Central amplitude reduction. fundus autofluorescensce/near infrared autofluorescence alterations confined to the macula." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259857" "04214" "00364519" "01695" "Unknown" "" "At the age of 47 visual acuity was 0.1 (right eye) and 0.16 (left eye). Full field ERG (dark / light adaptation): Not done Central amplitude reduction. fundus autofluorescensce/near infrared autofluorescence alterations confined to the macula." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259858" "04214" "00364520" "01695" "Unknown" "" "At the age of 40 visual acuity was 0.1 (right eye) and 0.1 (left eye). Full field ERG (dark / light adaptation): dark adaptation and light adaptation mildly reduced Central amplitude reduction. fundus autofluorescensce/near infrared autofluorescence alterations confined to the macula." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259859" "04214" "00364521" "01695" "Unknown" "" "At the age of 43 visual acuity was 0.05 (right eye) and 0.1 (left eye). Full field ERG (dark / light adaptation): Normal Not done. fundus autofluorescensce/near infrared autofluorescence alterations confined to the macula." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259860" "04214" "00364522" "01695" "Unknown" "" "At the age of 13 visual acuity was 0.1 (right eye) and 0.16 (left eye). Full field ERG (dark / light adaptation): dark adaptation and light adaptation borderline Central amplitude reduction. fundus autofluorescensce/near infrared autofluorescence alterations confined to the macula." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259861" "04214" "00364523" "01695" "Unknown" "" "At the age of 22 visual acuity was 0.1 (right eye) and 0.1 (left eye). Full field ERG (dark / light adaptation): Normal Central amplitude reduction. fundus autofluorescensce/near infrared autofluorescence alterations confined to the macula." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259862" "04214" "00364524" "01695" "Unknown" "" "At the age of 29 visual acuity was 0.1 (right eye) and 0.1 (left eye). Full field ERG (dark / light adaptation): Normal Not done. fundus autofluorescensce/near infrared autofluorescence alterations confined to the macula." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259863" "04214" "00364525" "01695" "Unknown" "" "At the age of 13 visual acuity was 0.4 (right eye) and 0.4 (left eye). Full field ERG (dark / light adaptation): Not done Central amplitude reduction. fundus autofluorescensce/near infrared autofluorescence alterations confined to the macula." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259864" "04214" "00364526" "01695" "Unknown" "" "At the age of 12, the visual acuity were 0.7 (OD) and 0.7 (OS). The number of preferred retinal locus degrees were 5.8 (OD) and 5.9 (OS). The locations of the preferred retinal locus were superior (OD) and superior (OS)." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259865" "04214" "00364527" "01695" "Unknown" "" "At the age of 31, the visual acuity were 0.5 (OD) and 0.5 (OS). The number of preferred retinal locus degrees were 2.8 (OD) and 1.9 (OS). The locations of the preferred retinal locus were superior (OD) and superior (OS)." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259866" "04214" "00364528" "01695" "Unknown" "" "At the age of 56, the visual acuity were 0.7 (OD) and 0.7 (OS). The number of preferred retinal locus degrees were 8.4 (OD) and 8 (OS). The locations of the preferred retinal locus were superior (OD) and superior (OS)." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259867" "04214" "00364529" "01695" "Unknown" "" "At the age of 23, the visual acuity were 1 (OD) and 1 (OS). The number of preferred retinal locus degrees were 0 (OD) and 0 (OS). The locations of the preferred retinal locus were foveal (OD) and foveal (OS)." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259868" "04214" "00364530" "01695" "Unknown" "" "At the age of 62, the visual acuity were 1.3 (OD) and 0.4 (OS). The number of preferred retinal locus degrees were 3 (OD) and 0 (OS). The locations of the preferred retinal locus were temporal (OD) and foveal (OS)." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259869" "04214" "00364531" "01695" "Unknown" "" "At the age of 65, the visual acuity were 0.3 (OD) and 1.3 (OS). The number of preferred retinal locus degrees were 4 (OD) and 2 (OS). The locations of the preferred retinal locus were superior (OD) and superior (OS)." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259870" "04214" "00364532" "01695" "Unknown" "" "At the age of 30, the visual acuity were 0.4 (OD) and 0.4 (OS). The number of preferred retinal locus degrees were 2.9 (OD) and 3 (OS). The locations of the preferred retinal locus were superior (OD) and superior (OS)." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259871" "04214" "00364533" "01695" "Unknown" "" "At the age of 24, the visual acuity were 0.3 (OD) and 0.3 (OS). The number of preferred retinal locus degrees were 8.6 (OD) and 8.5 (OS). The locations of the preferred retinal locus were superior (OD) and superior (OS)." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259872" "04214" "00364534" "01695" "Unknown" "" "At the age of 15, the visual acuity were 0 (OD) and 0 (OS). The number of preferred retinal locus degrees were 0 (OD) and 0 (OS). The locations of the preferred retinal locus were foveal (OD) and foveal (OS)." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259873" "04214" "00364535" "01695" "Unknown" "" "At the age of 20, the visual acuity were 0.3 (OD) and 0.4 (OS). The number of preferred retinal locus degrees were 1.8 (OD) and 2 (OS). The locations of the preferred retinal locus were superior (OD) and superior (OS)." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259874" "04214" "00364536" "01695" "Isolated (sporadic)" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000259875" "04214" "00364537" "01695" "Familial, autosomal recessive" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000259876" "04214" "00364538" "01695" "Familial, autosomal recessive" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000259877" "04214" "00364539" "01695" "Familial, autosomal recessive" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000259878" "04214" "00364540" "01695" "Familial, autosomal recessive" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000259879" "04214" "00364541" "01695" "Isolated (sporadic)" "" "At the age of 60, the visual acuity was 20/400 (OD), 20/400 (OS). Fundus findings in the macula were: Pigment clumping. Fundus findings in the periphery were: Posterior pole, midperiphery." "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000259880" "04214" "00364542" "01695" "Isolated (sporadic)" "" "At the age of 59, the visual acuity was 3/200 (OD), 3/400 (OS). Fundus findings in the macula were: Pigment clumping. Fundus findings in the periphery were: Posterior pole, midperiphery." "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000259881" "04214" "00364543" "01695" "Isolated (sporadic)" "" "At the age of 44, the visual acuity was 5/400 (OD), 5/200 (OS). Fundus findings in the macula were: Pigment clumping. Fundus findings in the periphery were: Periphery." "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000259882" "04214" "00364544" "01695" "Isolated (sporadic)" "" "At the age of 54, the visual acuity was 20/400 (OD), counting fingers (OS). Fundus findings in the macula were: Pigment clumping. Fundus findings in the periphery were: Posterior pole, peripapillary." "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000259883" "04214" "00364545" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259884" "04214" "00364546" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "macular dystrophy" ""
"0000259885" "04214" "00364547" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259886" "04214" "00364548" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259887" "04214" "00364549" "01695" "Unknown" "" "Visual Acuity 20/70 in both eyes" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259888" "04214" "00364550" "01695" "Unknown" "" "Our patient had clinical findings that were pathognomonic of typical STGD, except that the clinical course was stationary and he had 20 ? 15 vision because of well-preserved foveal function. The preserved foveal area was small and well demarcated. Visual acuity, fundus appearance, OCT images, static perimetry and FMERGs supported the well-preserved foveal function. The well-demarcated dark brown foveal RPE appeared to be hyperpigmented although the thickness measured by OCT was 29 lm which was within normal limits. The findings in our case could indicate that the nonatrophic foveal RPE had an effect in preserving the foveal morphology and function." "" "" "photophobia and a paracentral scotoma which was present since his teens and had not worsened" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259889" "04214" "00364551" "01695" "Unknown" "" "At the age of 49 the visual acuity was 20/160 (OD) and 20/160 (OS). High fluorescent areas were 1.24 mm^2 (OD) and 1.49 mm^3 (OS). ERG data are present in the paper of Chen et al., 2010." "46y" "" "first meeting at ophthalmologist" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259890" "04214" "00364552" "01695" "Unknown" "" "At the age of 78 the visual acuity was 20/250 (OD) and 20/160 (OS). High fluorescent areas were 1.21 mm^2 (OD) and 0.67 mm^3 (OS). ERG data are present in the paper of Chen et al., 2010." "75y" "" "first meeting at ophthalmologist" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259891" "04214" "00364553" "01695" "Unknown" "" "At the age of 44 the visual acuity was 20/200 (OD) and 20/160 (OS). High fluorescent areas were not measurable. ERG data are present in the paper of Chen et al., 2010." "41y" "" "first meeting at ophthalmologist" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259892" "04214" "00364554" "01695" "Unknown" "" "At the age of 35 the visual acuity was 20/200 (OD) and 20/250 (OS). High fluorescent areas were not measurable. ERG data are present in the paper of Chen et al., 2010." "33y" "" "first meeting at ophthalmologist" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259893" "04214" "00364555" "01695" "Unknown" "" "At the age of 63 the visual acuity was 20/800 (OD) and 20/400 (OS). High fluorescent areas were 1.3 mm^2 (OD) and 0.22 mm^3 (OS). ERG data are present in the paper of Chen et al., 2010." "61y" "" "first meeting at ophthalmologist" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259894" "04214" "00364556" "01695" "Unknown" "" "At the age of 62 the visual acuity was 20/80 (OD) and 20/20 (OS). High fluorescent areas were not measurable. ERG data are present in the paper of Chen et al., 2010." "59y" "" "first meeting at ophthalmologist" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259895" "04214" "00364557" "01695" "Unknown" "" "At the age of 62 the visual acuity was 20/640 (OD) and 20/500 (OS). High fluorescent areas were not measurable. ERG data are present in the paper of Chen et al., 2010." "59y" "" "first meeting at ophthalmologist" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259896" "04214" "00364558" "01695" "Unknown" "" "At the age of 62 the visual acuity was 20/40 (OD) and 20/80 (OS). High fluorescent areas were not measurable. ERG data are present in the paper of Chen et al., 2010." "59y" "" "first meeting at ophthalmologist" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259897" "04214" "00364559" "01695" "Unknown" "" "At the age of 35 the visual acuity was 20/100 (OD) and 20/125 (OS). High fluorescent areas were 0.7 mm^2 (OD) and 0.83 mm^3 (OS). ERG data are present in the paper of Chen et al., 2010." "34y" "" "first meeting at ophthalmologist" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259898" "04214" "00364560" "01695" "Unknown" "" "At the age of 64 the visual acuity was 20/250 (OD) and 20/320 (OS). High fluorescent areas were 0.67 mm^2 (OD) and 0.74 mm^3 (OS). ERG data are present in the paper of Chen et al., 2010." "61y" "" "first meeting at ophthalmologist" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259899" "04214" "00364561" "01695" "Unknown" "" "At the age of 52 the visual acuity was 20/25 (OD) and 20/20 (OS). High fluorescent areas were not measurable. ERG data are present in the paper of Chen et al., 2010." "50y" "" "first meeting at ophthalmologist" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259900" "04214" "00364562" "01695" "Unknown" "" "At the age of 43 the visual acuity was 20/125 (OD) and 20/200 (OS). High fluorescent areas were not measurable. ERG data are present in the paper of Chen et al., 2010." "41y" "" "first meeting at ophthalmologist" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259901" "04214" "00364563" "01695" "Unknown" "" "At the age of 46 the visual acuity was 20/125 (OD) and 20/200 (OS). High fluorescent areas were 1.29 mm^2 (OD) and 0.86 mm^3 (OS). ERG data are present in the paper of Chen et al., 2010." "44y" "" "first meeting at ophthalmologist" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259902" "04214" "00364564" "01695" "Unknown" "" "At the age of 44 the visual acuity was 20/200 (OD) and 20/160 (OS). High fluorescent areas were 0.96 mm^2 (OD) and 1.36 mm^3 (OS). ERG data are present in the paper of Chen et al., 2010." "44y" "" "first meeting at ophthalmologist" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259903" "04214" "00364565" "01695" "Unknown" "" "At the age of 44 the visual acuity was 20/20 (OD) and 20/20 (OS). High fluorescent areas were not measurable. ERG data are present in the paper of Chen et al., 2010." "44y" "" "first meeting at ophthalmologist" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259904" "04214" "00364566" "01695" "Unknown" "" "At the age of 43 the visual acuity was 20/100 (OD) and 20/160 (OS). High fluorescent areas were not measurable. ERG data are present in the paper of Chen et al., 2010." "43y" "" "first meeting at ophthalmologist" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259905" "04214" "00364567" "01695" "Unknown" "" "At the age of 73 the visual acuity was 20/200 (OD) and 20/200 (OS). High fluorescent areas were not measurable. ERG data are present in the paper of Chen et al., 2010." "73y" "" "first meeting at ophthalmologist" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259906" "04214" "00364568" "01695" "Unknown" "" "At the age of 28 the visual acuity was 20/125 (OD) and 20/200 (OS). High fluorescent areas were 0.56 mm^2 (OD) and 0.03 mm^3 (OS). ERG data are present in the paper of Chen et al., 2010." "28y" "" "first meeting at ophthalmologist" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259907" "04214" "00364569" "01695" "Unknown" "" "At the age of 49 the visual acuity was 20/160 (OD) and 20/160 (OS). High fluorescent areas were 1.48 mm^2 (OD) and 1.68 mm^3 (OS). ERG data are present in the paper of Chen et al., 2010." "49y" "" "first meeting at ophthalmologist" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259908" "04214" "00364570" "01695" "Unknown" "" "At the age of 15 the visual acuity was 20/13 (OD) and 20/13 (OS). High fluorescent areas were 0.17 mm^2 (OD) and 0.48 mm^3 (OS). ERG data are present in the paper of Chen et al., 2010." "15y" "" "first meeting at ophthalmologist" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259909" "04214" "00364571" "01695" "Unknown" "" "At the age of 9 the visual acuity was 20/200 (OD) and 20/160 (OS). High fluorescent areas were 3.7 mm^2 (OD) and 4.23 mm^3 (OS). ERG data are present in the paper of Chen et al., 2010." "9y" "" "first meeting at ophthalmologist" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259910" "04214" "00364572" "01695" "Unknown" "" "At the age of 35 the visual acuity was 20/16 (OD) and 20/20 (OS). High fluorescent areas were 2.7 mm^2 (OD) and 2.56 mm^3 (OS). ERG data are present in the paper of Chen et al., 2010." "35y" "" "first meeting at ophthalmologist" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259911" "04214" "00364573" "01695" "Unknown" "" "At the age of 30 the visual acuity was 20/250 (OD) and 20/250 (OS). High fluorescent areas were 4.23 mm^2 (OD) and 3.77 mm^3 (OS). ERG data are present in the paper of Chen et al., 2010." "30y" "" "first meeting at ophthalmologist" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259912" "04214" "00364574" "01695" "Unknown" "" "At the age of 47 the visual acuity was 20/160 (OD) and 20/125 (OS). High fluorescent areas were 0.46 mm^2 (OD) and 0.13 mm^3 (OS). ERG data are present in the paper of Chen et al., 2010." "47y" "" "first meeting at ophthalmologist" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259913" "04214" "00364575" "01695" "Unknown" "" "At the age of 61 the visual acuity was 20/100 (OD) and 20/125 (OS). High fluorescent areas were 0.83 mm^2 (OD) and 0.15 mm^3 (OS). ERG data are present in the paper of Chen et al., 2010." "61y" "" "first meeting at ophthalmologist" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259914" "04214" "00364576" "01695" "Unknown" "" "At the age of 55 the visual acuity was 20/25 (OD) and 20/20 (OS). High fluorescent areas were 0.11 mm^2 (OD) and 0.47 mm^3 (OS). ERG data are present in the paper of Chen et al., 2010." "55y" "" "first meeting at ophthalmologist" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259915" "04214" "00364577" "01695" "Unknown" "" "At the age of 16 the visual acuity was 20/63 (OD) and 20/63 (OS). High fluorescent areas were 0.08 mm^2 (OD) and 0.69 mm^3 (OS). ERG data are present in the paper of Chen et al., 2010." "16y" "" "first meeting at ophthalmologist" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259916" "04214" "00364578" "01695" "Unknown" "" "At the age of 53 the visual acuity was 20/200 (OD) and 20/200 (OS). High fluorescent areas were 0.97 mm^2 (OD) and 0.53 mm^3 (OS). ERG data are present in the paper of Chen et al., 2010." "50y" "" "first meeting at ophthalmologist" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259917" "04214" "00364579" "01695" "Unknown" "" "At the age of 37 the visual acuity was 20/40 (OD) and 20/20 (OS). High fluorescent areas were 0.14 mm^2 (OD) and 0.25 mm^3 (OS). ERG data are present in the paper of Chen et al., 2010." "36y" "" "first meeting at ophthalmologist" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259918" "04214" "00364580" "01695" "Unknown" "" "At the age of 26 the visual acuity was 20/200 (OD) and 20/125 (OS). High fluorescent areas were 0.65 mm^2 (OD) and 0.56 mm^3 (OS). ERG data are present in the paper of Chen et al., 2010." "25y" "" "first meeting at ophthalmologist" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259919" "04214" "00364581" "01695" "Unknown" "" "At the age of 34 the visual acuity was 20/50 (OD) and 20/200 (OS). High fluorescent areas were 0.76 mm^2 (OD) and 0.92 mm^3 (OS). ERG data are present in the paper of Chen et al., 2010." "32y" "" "first meeting at ophthalmologist" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259920" "04214" "00364582" "01695" "Unknown" "" "At the age of 22 the visual acuity was 20/63 (OD) and 20/125 (OS). High fluorescent areas were 0.4 mm^2 (OD) and 0.69 mm^3 (OS). ERG data are present in the paper of Chen et al., 2010." "21y" "" "first meeting at ophthalmologist" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259921" "04214" "00364583" "01695" "Unknown" "" "At the age of 36 the visual acuity was 20/160 (OD) and 20/100 (OS). High fluorescent areas were 0.15 mm^2 (OD) and 0.13 mm^3 (OS). ERG data are present in the paper of Chen et al., 2010." "34y" "" "first meeting at ophthalmologist" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259922" "04214" "00364584" "01695" "Unknown" "" "At the age of 31 the visual acuity was 20/40 (OD) and 20/40 (OS). High fluorescent areas were 0.41 mm^2 (OD) and 0.56 mm^3 (OS). ERG data are present in the paper of Chen et al., 2010." "29y" "" "first meeting at ophthalmologist" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259923" "04214" "00364585" "01695" "Unknown" "" "At the age of 11 the visual acuity was 20/160 (OD) and 20/160 (OS). High fluorescent areas were 0.46 mm^2 (OD) and 0.07 mm^3 (OS). ERG data are present in the paper of Chen et al., 2010." "8y" "" "first meeting at ophthalmologist" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259924" "04214" "00364586" "01695" "Unknown" "" "At the age of 54 the visual acuity was 20/16 (OD) and 20/16 (OS). High fluorescent areas were 1.04 mm^2 (OD) and 1.54 mm^3 (OS). ERG data are present in the paper of Chen et al., 2010." "51y" "" "first meeting at ophthalmologist" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259925" "04214" "00364587" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "macular dystrophy" ""
"0000259926" "04214" "00364588" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "macular dystrophy" ""
"0000259927" "04214" "00364589" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "macular dystrophy" ""
"0000259928" "04214" "00364590" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "macular dystrophy" ""
"0000259929" "04214" "00364591" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "macular dystrophy" ""
"0000259930" "04214" "00364592" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259931" "04214" "00364593" "01695" "Unknown" "" "At the age of 17, the visual acuity was 20/40 OD and 20/40 OS. Furthermore, there were typical fundus changes, dark choroid on fluorescein angiography" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259932" "04214" "00364594" "01695" "Unknown" "" "At the age of 30, the visual acuity was 20/30 OD and 20/100 OS. Furthermore, there were typical fundus changes" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259933" "04214" "00364595" "01695" "Unknown" "" "At the age of 22, the visual acuity was 20/200 OD and 20/200 OS. Furthermore, there were typical fundus changes, dark choroid on fluorescein angiography" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259934" "04214" "00364596" "01695" "Unknown" "" "At the age of 40, the visual acuity was 20/100 OD and 20/100 OS. Furthermore, there were typical fundus changes" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000259935" "04214" "00364597" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "Stargardt disease, cone-rod dystrophy, retinitis pigmentosa" ""
"0000259936" "04214" "00364598" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "Stargardt disease, cone-rod dystrophy, retinitis pigmentosa" ""
"0000259937" "04214" "00364599" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "Stargardt disease, cone-rod dystrophy, retinitis pigmentosa" ""
"0000259938" "04214" "00364600" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "Stargardt disease, cone-rod dystrophy, retinitis pigmentosa" ""
"0000259939" "04214" "00364601" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "Stargardt disease, cone-rod dystrophy, retinitis pigmentosa" ""
"0000259940" "04214" "00364602" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "Stargardt disease, cone-rod dystrophy, retinitis pigmentosa" ""
"0000259941" "04214" "00364603" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "Stargardt disease, cone-rod dystrophy, retinitis pigmentosa" ""
"0000259942" "04214" "00364604" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "Stargardt disease, cone-rod dystrophy, retinitis pigmentosa" ""
"0000259943" "04214" "00364605" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "Stargardt disease, cone-rod dystrophy, retinitis pigmentosa" ""
"0000259944" "04214" "00364606" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "Stargardt disease, cone-rod dystrophy, retinitis pigmentosa" ""
"0000259945" "04214" "00364607" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "Stargardt disease, cone-rod dystrophy, retinitis pigmentosa" ""
"0000259946" "04214" "00364608" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "Stargardt disease, cone-rod dystrophy, retinitis pigmentosa" ""
"0000259947" "04214" "00364609" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "Stargardt disease, cone-rod dystrophy, retinitis pigmentosa" ""
"0000259948" "04214" "00364610" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "Stargardt disease, cone-rod dystrophy, retinitis pigmentosa" ""
"0000259949" "04214" "00364611" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "Stargardt disease, cone-rod dystrophy, retinitis pigmentosa" ""
"0000259950" "04214" "00364612" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "Stargardt disease, cone-rod dystrophy, retinitis pigmentosa" ""
"0000259951" "04214" "00364613" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "Stargardt disease, cone-rod dystrophy, retinitis pigmentosa" ""
"0000259952" "04214" "00364614" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "Stargardt disease, cone-rod dystrophy, retinitis pigmentosa" ""
"0000259953" "04214" "00364615" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "Stargardt disease, cone-rod dystrophy, retinitis pigmentosa" ""
"0000259954" "04214" "00364616" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "Stargardt disease, cone-rod dystrophy, retinitis pigmentosa" ""
"0000259955" "04214" "00364617" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "Stargardt disease, cone-rod dystrophy, retinitis pigmentosa" ""
"0000259956" "04214" "00364618" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "Stargardt disease, cone-rod dystrophy, retinitis pigmentosa" ""
"0000259957" "04214" "00364619" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "Stargardt disease, cone-rod dystrophy, retinitis pigmentosa" ""
"0000259958" "04214" "00364620" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "Stargardt disease, cone-rod dystrophy, retinitis pigmentosa" ""
"0000259959" "04214" "00364621" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "Stargardt disease, cone-rod dystrophy, retinitis pigmentosa" ""
"0000259960" "04214" "00364622" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "Stargardt disease, cone-rod dystrophy, retinitis pigmentosa" ""
"0000259961" "04214" "00364623" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "Stargardt disease, cone-rod dystrophy, retinitis pigmentosa" ""
"0000259962" "04214" "00364624" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "Stargardt disease, cone-rod dystrophy, retinitis pigmentosa" ""
"0000259963" "04214" "00364625" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "Stargardt disease, cone-rod dystrophy, retinitis pigmentosa" ""
"0000259964" "04214" "00364626" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "Stargardt disease, cone-rod dystrophy, retinitis pigmentosa" ""
"0000259965" "04214" "00364627" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "Stargardt disease, cone-rod dystrophy, retinitis pigmentosa" ""
"0000259966" "04214" "00364628" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "Stargardt disease, cone-rod dystrophy, retinitis pigmentosa" ""
"0000259967" "04214" "00364629" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "Stargardt disease, cone-rod dystrophy, retinitis pigmentosa" ""
"0000259968" "04214" "00364630" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "Stargardt disease, cone-rod dystrophy, retinitis pigmentosa" ""
"0000259969" "04214" "00364631" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "Stargardt disease, cone-rod dystrophy, retinitis pigmentosa" ""
"0000259970" "04214" "00364632" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "Stargardt disease, cone-rod dystrophy, retinitis pigmentosa" ""
"0000259971" "04214" "00364633" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "Stargardt disease, cone-rod dystrophy, retinitis pigmentosa" ""
"0000259972" "04214" "00364634" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "Stargardt disease, cone-rod dystrophy, retinitis pigmentosa" ""
"0000259973" "04214" "00364635" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "Stargardt disease, cone-rod dystrophy, retinitis pigmentosa" ""
"0000259974" "04214" "00364636" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "Stargardt disease, cone-rod dystrophy, retinitis pigmentosa" ""
"0000259975" "04214" "00364637" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "Stargardt disease, cone-rod dystrophy, retinitis pigmentosa" ""
"0000259976" "04214" "00364638" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "Stargardt disease, cone-rod dystrophy, retinitis pigmentosa" ""
"0000259977" "04214" "00364639" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "Stargardt disease, cone-rod dystrophy, retinitis pigmentosa" ""
"0000259978" "04214" "00364640" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "Stargardt disease, cone-rod dystrophy, retinitis pigmentosa" ""
"0000259979" "04214" "00364641" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "Stargardt disease, cone-rod dystrophy, retinitis pigmentosa" ""
"0000259980" "04214" "00364642" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "Stargardt disease, cone-rod dystrophy, retinitis pigmentosa" ""
"0000259981" "04214" "00364643" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "Stargardt disease, cone-rod dystrophy, retinitis pigmentosa" ""
"0000259982" "04214" "00364644" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "Stargardt disease, cone-rod dystrophy, retinitis pigmentosa" ""
"0000259983" "04214" "00364645" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "Stargardt disease, cone-rod dystrophy, retinitis pigmentosa" ""
"0000259984" "04214" "00364646" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "Stargardt disease, cone-rod dystrophy, retinitis pigmentosa" ""
"0000259985" "04214" "00364647" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "Stargardt disease, cone-rod dystrophy, retinitis pigmentosa" ""
"0000259986" "04214" "00364648" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "Stargardt disease, cone-rod dystrophy, retinitis pigmentosa" ""
"0000259987" "04214" "00364649" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "Stargardt disease, cone-rod dystrophy, retinitis pigmentosa" ""
"0000259988" "04214" "00364650" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "Stargardt disease, cone-rod dystrophy, retinitis pigmentosa" ""
"0000259989" "04214" "00364651" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "Stargardt disease, cone-rod dystrophy, retinitis pigmentosa" ""
"0000259990" "04214" "00364652" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "Stargardt disease, cone-rod dystrophy, retinitis pigmentosa" ""
"0000259991" "04214" "00364653" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "Stargardt disease, cone-rod dystrophy, retinitis pigmentosa" ""
"0000259992" "04214" "00364654" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "Stargardt disease, cone-rod dystrophy, retinitis pigmentosa" ""
"0000259993" "04214" "00364655" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "Stargardt disease, cone-rod dystrophy, retinitis pigmentosa" ""
"0000259994" "04214" "00364656" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "Stargardt disease, cone-rod dystrophy, retinitis pigmentosa" ""
"0000259995" "04214" "00364657" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "Stargardt disease, cone-rod dystrophy, retinitis pigmentosa" ""
"0000259996" "04214" "00364658" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "Stargardt disease, cone-rod dystrophy, retinitis pigmentosa" ""
"0000259997" "04214" "00364659" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "Stargardt disease, cone-rod dystrophy, retinitis pigmentosa" ""
"0000259998" "04214" "00364660" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "Stargardt disease, cone-rod dystrophy, retinitis pigmentosa" ""
"0000259999" "04214" "00364661" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "Stargardt disease, cone-rod dystrophy, retinitis pigmentosa" ""
"0000260000" "04214" "00364662" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "Stargardt disease, cone-rod dystrophy, retinitis pigmentosa" ""
"0000260001" "04214" "00364663" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "Stargardt disease, cone-rod dystrophy, retinitis pigmentosa" ""
"0000260002" "04214" "00364664" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "Stargardt disease, cone-rod dystrophy, retinitis pigmentosa" ""
"0000260003" "04214" "00364665" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "Stargardt disease, cone-rod dystrophy, retinitis pigmentosa" ""
"0000260004" "04214" "00364666" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "Stargardt disease, cone-rod dystrophy, retinitis pigmentosa" ""
"0000260005" "04214" "00364667" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "Stargardt disease, cone-rod dystrophy, retinitis pigmentosa" ""
"0000260006" "04214" "00364668" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "Stargardt disease, cone-rod dystrophy, retinitis pigmentosa" ""
"0000260007" "04214" "00364669" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "Stargardt disease, cone-rod dystrophy, retinitis pigmentosa" ""
"0000260008" "04214" "00364670" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "Stargardt disease, cone-rod dystrophy, retinitis pigmentosa" ""
"0000260009" "04214" "00364671" "01695" "Unknown" "" "At the age of 43, the visual acuity was 20/20 (OS). ERG group II and fundus autofluorescence abnormalities: only macular" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260010" "04214" "00364672" "01695" "Unknown" "" "At the age of 30, the visual acuity was 20/150 (OS). ERG group I and fundus autofluorescence abnormalities: only macular" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260011" "04214" "00364673" "01695" "Unknown" "" "At the age of 55, the visual acuity was 20/30 (OD). ERG group I and fundus autofluorescenceabnormalities : extramacular" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260012" "04214" "00364674" "01695" "Unknown" "" "At the age of 44, the visual acuity was 20/25 (OD). ERG group I and fundus autofluorescence abnormalities: only macular" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260013" "04214" "00364675" "01695" "Unknown" "" "At the age of 24, the visual acuity was 20/200 (OD). ERG group I and fundus autofluorescence abnormalities: only macular" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260014" "04214" "00364676" "01695" "Unknown" "" "At the age of 22, the visual acuity was 20/30 (OD). ERG group I and fundus autofluorescence abnormalities: only macular" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260015" "04214" "00364677" "01695" "Unknown" "" "At the age of 21, the visual acuity was 20/150 (OD). ERG group I and fundus autofluorescence abnormalities: only macular" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260016" "04214" "00364678" "01695" "Unknown" "" "At the age of 18, the visual acuity was 20/100 (OS). ERG group I and fundus autofluorescence abnormalities: only macular" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260017" "04214" "00364679" "01695" "Unknown" "" "At the age of 27, the visual acuity was 20/400 (OS). ERG group II and fundus autofluorescenceabnormalities : extramacular" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260018" "04214" "00364680" "01695" "Unknown" "" "At the age of 34, the visual acuity was 20/100 (OS). ERG group I and fundus autofluorescence abnormalities: only macular" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260019" "04214" "00364681" "01695" "Unknown" "" "At the age of 20, the visual acuity was 20/150 (OS). ERG group I and fundus autofluorescence abnormalities: only macular" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260020" "04214" "00364682" "01695" "Unknown" "" "At the age of 23, the visual acuity was 20/150 (OS). ERG group I and fundus autofluorescence abnormalities: only macular" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260021" "04214" "00364683" "01695" "Unknown" "" "At the age of 59, the visual acuity was 20/100 (OS). ERG group II and fundus autofluorescenceabnormalities : extramacular" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260022" "04214" "00364684" "01695" "Unknown" "" "At the age of 49, the visual acuity was 20/150 (OD). ERG group I and fundus autofluorescenceabnormalities : extramacular" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260023" "04214" "00364685" "01695" "Unknown" "" "At the age of 47, the visual acuity was 20/80 (OS). ERG group I and fundus autofluorescenceabnormalities : extramacular" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260024" "04214" "00364686" "01695" "Unknown" "" "At the age of 42, the visual acuity was 20/200 (OD). ERG group I and fundus autofluorescenceabnormalities : extramacular" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260025" "04214" "00364687" "01695" "Unknown" "" "At the age of 14, the visual acuity was 20/200 (OD). ERG group II and fundus autofluorescenceabnormalities : extramacular" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260026" "04214" "00364688" "01695" "Unknown" "" "At the age of 52, the visual acuity was 20/20 (OS). ERG group I and fundus autofluorescence abnormalities: only macular" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260027" "04214" "00364689" "01695" "Unknown" "" "At the age of 34, the visual acuity was 20/30 (OS). ERG group I and fundus autofluorescence abnormalities: only macular" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260028" "04214" "00364690" "01695" "Unknown" "" "At the age of 33, the visual acuity was 20/100 (OD). ERG group I and fundus autofluorescence abnormalities: only macular" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260029" "04214" "00364691" "01695" "Unknown" "" "At the age of 22, the visual acuity was 20/60 (OS). ERG group I and fundus autofluorescence abnormalities: only macular" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260030" "04214" "00364692" "01695" "Unknown" "" "At the age of 34, the visual acuity was 20/200 (OS). ERG group I and fundus autofluorescenceabnormalities : extramacular" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260031" "04214" "00364693" "01695" "Unknown" "" "At the age of 19, the visual acuity was 20/200 (OD). ERG group I and fundus autofluorescenceabnormalities : extramacular" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260032" "04214" "00364694" "01695" "Unknown" "" "At the age of 27, the visual acuity was 20/400 (OD). ERG group II and fundus autofluorescenceabnormalities : extramacular" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260033" "04214" "00364695" "01695" "Unknown" "" "At the age of 18, the visual acuity was 20/50 (OS). ERG group I and fundus autofluorescenceabnormalities : extramacular" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260034" "04214" "00364696" "01695" "Unknown" "" "At the age of 22, the visual acuity was 20/150 (OS). ERG group I and fundus autofluorescenceabnormalities : extramacular" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260035" "04214" "00364697" "01695" "Unknown" "" "At the age of 44, the visual acuity was 20/150 (OS). ERG group I and fundus autofluorescenceabnormalities : extramacular" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260036" "04214" "00364698" "01695" "Unknown" "" "At the age of 9, visual acuity was 20/100, 20/100 (OD, OS)" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260037" "04214" "00364699" "01695" "Unknown" "" "At the age of 36, visual acuity was 20/160, 20/160 (OD, OS)" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260038" "04214" "00364700" "01695" "Unknown" "" "At examination the patient’s best-corrected visual acuity (BCVA) was OD: 20/200 and OS: 20/40. Refractive error was OD: ?5.25/?0.75 × 4° and OS: ?5.75/?0.50 × 133°. Anterior segment examinations were normal. Following pupil dilatation, pigmentary changes in the macular area were observed together with RPE atrophy. Flecks extended anterior to the vascular arcades and the optic disc in both eyes on fundus examination in keeping with a diagnosis of Fishman stage II disease. On FAF, the atrophic macular lesions demonstrated profound hypoautofluorescence with surrounding heterogeneous patterns of alternating hypo/hyperautofluorescence bilaterally." "<25y" "" "She had an onset of visual symptoms in her early twenties and was diagnosed with STGD1 at age 32 years." "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260039" "04214" "00364701" "01695" "Unknown" "13y" "At examination, BCVA was 20/200 bilaterally and refractive error was OD: ?1.50/+0.50 × 149° and OS: ?1.50/+0.25 × 161°. Anterior segment examinations were normal. Dilated fundus examination revealed pigmentary changes, with a beaten-metal appearance of the fovea and a discontinuous ring of flecks encircling the fovea in keeping with a diagnosis of stage I STGD1. FAF demonstrated GA with central hypoautofluorescence. This was surrounded by a hyperautofluorescent transitional zone in each eye, though this finding was more pronounced in the right eye. This patient had normal cone and rod responses on ERG, and so was diagnosed with ERG group I STGD1." "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260040" "04214" "00364702" "01695" "Familial, autosomal recessive" "" "At the age of 64 the visual acuity was hand motion (OD) and hand motion (OS). The fundus appearance comprised: attenuated arterioles, bone spicules, pale optic disc" "5y" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000260041" "04214" "00364703" "01695" "Familial, autosomal recessive" "" "At the age of 62 the visual acuity was hand motion (OD) and hand motion (OS). The fundus appearance comprised: attenuated arterioles, bone spicules, pale optic disc" "6y" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000260042" "04214" "00364704" "01695" "Unknown" "" "At the age of 12, the visual acuity of the tested eye was 20/20. The Kinetic Visual Field Extent (V-4e) was 97. There was foveal fixation" "<12y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260043" "04214" "00364705" "01695" "Unknown" "" "At the age of 17, the visual acuity of the tested eye was 20/100. The Kinetic Visual Field Extent (V-4e) was 90. There was foveal fixation" "<19y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260044" "04214" "00364706" "01695" "Unknown" "" "At the age of 18, the visual acuity of the tested eye was 20/100. The Kinetic Visual Field Extent (V-4e) was 105. There was foveal fixation" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260045" "04214" "00364707" "01695" "Unknown" "" "At the age of 21, the visual acuity of the tested eye was 20/125. The Kinetic Visual Field Extent (V-4e) was 101. There was foveal fixation" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260046" "04214" "00364708" "01695" "Unknown" "" "At the age of 24, the visual acuity of the tested eye was 20/25. The Kinetic Visual Field Extent (V-4e) was 114. There was foveal fixation" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260047" "04214" "00364709" "01695" "Unknown" "" "At the age of 34, the visual acuity of the tested eye was 20/32. The Kinetic Visual Field Extent (V-4e) was 98. There was foveal fixation" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000260048" "04214" "00364710" "01695" "Unknown" "" "At the age of 16, the visual acuity of the tested eye was 20/100. The Kinetic Visual Field Extent (V-4e) was 100. There was extrafoveal fixation" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260049" "04214" "00364711" "01695" "Unknown" "" "At the age of 16, the visual acuity of the tested eye was 20/125. The Kinetic Visual Field Extent (V-4e) was 100. There was extrafoveal fixation" "<16y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260050" "04214" "00364712" "01695" "Unknown" "" "At the age of 21, the visual acuity of the tested eye was 20/200. The Kinetic Visual Field Extent (V-4e) was 99. There was extrafoveal fixation" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260051" "04214" "00364713" "01695" "Unknown" "" "At the age of 27, the visual acuity of the tested eye was 20/100. The Kinetic Visual Field Extent (V-4e) was 98. There was extrafoveal fixation" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260052" "04214" "00364714" "01695" "Unknown" "" "At the age of 27, the visual acuity of the tested eye was 20/100. The Kinetic Visual Field Extent (V-4e) was 109. There was extrafoveal fixation" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260053" "04214" "00364715" "01695" "Unknown" "" "At the age of 33, the visual acuity of the tested eye was 20/400. The Kinetic Visual Field Extent (V-4e) was 98. There was extrafoveal fixation" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260054" "04214" "00364716" "01695" "Unknown" "" "At the age of 41, the visual acuity of the tested eye was 20/125. The Kinetic Visual Field Extent (V-4e) was 108. There was extrafoveal fixation" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260055" "04214" "00364717" "01695" "Unknown" "" "At the age of 55, the visual acuity of the tested eye was 20/160. The Kinetic Visual Field Extent (V-4e) was 87. There was extrafoveal fixation" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260056" "04214" "00364718" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260057" "04214" "00364719" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260058" "04214" "00364720" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260059" "04214" "00364721" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260060" "04214" "00364722" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260061" "04214" "00364723" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260062" "04214" "00364724" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260063" "04214" "00364725" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260064" "04214" "00364726" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260065" "04214" "00364727" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260066" "04214" "00364728" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260067" "04214" "00364729" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260068" "04214" "00364730" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260069" "04214" "00364731" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260070" "04214" "00364732" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260071" "04214" "00364733" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260072" "04214" "00364734" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260073" "04214" "00364735" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260074" "04214" "00364736" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260075" "04214" "00364737" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260076" "04214" "00364738" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260077" "04214" "00364739" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260078" "04214" "00364740" "01695" "Unknown" "" "At the age of 17, visual acuity was 20/50 for both eyes. FAF: Small oval of reduced FAF surrounded by increased FAF" "14y" "" "first symptoms" "" "" "" "" "" "" "foveal cavitation" ""
"0000260079" "04214" "00364741" "01695" "Unknown" "" "At the age of 54, Her visual acuity was 20/40 in the right eye and 20/32 in the left eye." "22y" "" "vision loss" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260080" "04214" "00364742" "01695" "Unknown" "" "case of STGD without ICGA-imaged dark atrophy. The patient was a 17-year-old woman that began suffering with metamorphopsia and visual loss at the age of 8. At the study visit, she presented photoreceptor and RPE atrophy, with a visual acuity of 20/125 in both eyes." "8y" "" "metamorphopsia and visual loss" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260081" "04214" "00364743" "01695" "Unknown" "" "At the age of 41, Her visual acuities were CF in both eyes. Fundus photographs and FAF images revealed advanced disease" "9y" "" "symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260082" "04214" "00364744" "01695" "Unknown" "" "Visual acuity was 0.1 (OD) and 0.1 (OS). The macula showed: Foveal reflex was blunted . The posterior retina showed: Yellow and white exudation." "19y" "" "Blurred vision" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260083" "04214" "00364745" "01695" "Unknown" "" "In addition to loss of visual acuity, the proband reported increasing light sensitivity and used tinted lenses both indoors and outside. Visual acuity at the time of examination, aged 32 years, was counting fingers and hand movements only. There was a bull’s eye maculopathy and flecks, limited to the perifoveal area." "25y-30y" "" "vision loss" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260084" "04214" "00364746" "01695" "Unknown" "" "In addition to loss of visual acuity, the proband reported increasing light sensitivity and used tinted lenses both indoors and outside. Visual acuity at the time of examination, aged 32 years, was counting fingers and hand movements only. There was a bull’s eye maculopathy and flecks, limited to the perifoveal area." "25y-30y" "" "vision loss" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260085" "04214" "00364747" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000260086" "04214" "00364748" "01695" "Unknown" "" "At the age of 25, the BCVA was 20/200 (OD) and 20/200 (OS). Color vision was: not done. Fundus grade was (Fishman): 3. Dark choroid (intravenous fluorescein angiography) was present." "20y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260087" "04214" "00364749" "01695" "Unknown" "" "At the age of 50, the BCVA was 20/70 (OD) and 20/60 (OS). Color vision was: not done. Fundus grade was (Fishman): 1. Dark choroid (intravenous fluorescein angiography) was present." "45y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260088" "04214" "00364750" "01695" "Unknown" "" "At the age of 37, the BCVA was 20/40 (OD) and 20/30 (OS). Color vision was: affected. Fundus grade was (Fishman): 2. Dark choroid (intravenous fluorescein angiography) was present." "35y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260089" "04214" "00364751" "01695" "Unknown" "" "At the age of 34, the BCVA was 20/200 (OD) and 20/200 (OS). Color vision was: affected. Fundus grade was (Fishman): 3. Dark choroid (intravenous fluorescein angiography) was present." "34y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260090" "04214" "00364752" "01695" "Unknown" "" "At the age of 45, the BCVA was 20/100 (OD) and 20/100 (OS). Color vision was: affected. Fundus grade was (Fishman): 1. Dark choroid (intravenous fluorescein angiography) was present." "9y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260091" "04214" "00364753" "01695" "Unknown" "" "At the age of 34, the BCVA was 20/200 (OD) and 20/30 (OS). Color vision was: full. Fundus grade was (Fishman): 3. Dark choroid (intravenous fluorescein angiography) was not present." "17y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260092" "04214" "00364754" "01695" "Unknown" "" "At the age of 45, the BCVA was 20/65 (OD) and 20/80 (OS). Color vision was: affected. Fundus grade was (Fishman): 2. Dark choroid (intravenous fluorescein angiography) was present." "42y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260093" "04214" "00364755" "01695" "Unknown" "" "At the age of 31, the BCVA was 20/40 (OD) and 20/30 (OS). Color vision was: affected. Fundus grade was (Fishman): 2. Dark choroid (intravenous fluorescein angiography) was present." "30y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260094" "04214" "00364756" "01695" "Unknown" "" "At the age of 16, the BCVA was 20/25 (OD) and 20/25 (OS). Color vision was: not done. Fundus grade was (Fishman): 1. Dark choroid (intravenous fluorescein angiography) was not present." "11y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260095" "04214" "00364757" "01695" "Unknown" "" "At the age of 15, the BCVA was 20/200 (OD) and 20/200 (OS). Color vision was: not done. Fundus grade was (Fishman): 1. Dark choroid (intravenous fluorescein angiography) was present." "15y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260096" "04214" "00364758" "01695" "Unknown" "" "LogMAR visual acuity for the right and left eye was 0.3 and 0.2. Fundus photography identified symmetrical yellowish-white fine dots at the central macula; there were also numerous peripheral yellowish-white flecks. Autofluorescence (AF) imaging showed well-defined dots of high AF signal corresponding to the macular dots seen clinically." "5y" "" "which visual loss was first noted by the subject or in the asymptomatic subjects when abnormal retinal appearance was first detected" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260097" "04214" "00364759" "01695" "Unknown" "" "LogMAR visual acuity for the right and left eye was 0.5 and 0.4. Fundus photography identified symmetrical yellowish-white fine dots at the central macula ; there were also numerous peripheral yellowish-white flecks. Autofluorescence (AF) imaging showed well-defined dots of high AF signal corresponding to the macular dots seen clinically." "8y" "" "which visual loss was first noted by the subject or in the asymptomatic subjects when abnormal retinal appearance was first detected" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260098" "04214" "00364760" "01695" "Unknown" "" "At the age of 48, the BCVA was 20/30 (OD)." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260099" "04214" "00364761" "01695" "Unknown" "" "At the age of 52, the BCVA was 20/40 (OD)." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260100" "04214" "00364762" "01695" "Unknown" "" "At the age of 13, the BCVA was 20/150 (OS)." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260101" "04214" "00364763" "01695" "Unknown" "" "At the age of 14, the BCVA was 20/80 (OS)." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260102" "04214" "00364764" "01695" "Unknown" "" "At the age of 49, the BCVA was 20/50 (OS)." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260103" "04214" "00364765" "01695" "Unknown" "" "At the age of 50, the BCVA was 20/200 (OS)." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260104" "04214" "00364766" "01695" "Unknown" "" "At the age of 34, the BCVA was 20/200 (OD)." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260105" "04214" "00364767" "01695" "Unknown" "" "At the age of 46, the BCVA was 20/400 (OD)." "30y-40y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260106" "04214" "00364768" "01695" "Unknown" "" "At the age of 35, the BCVA was 20/400 (OD)." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260107" "04214" "00364769" "01695" "Unknown" "" "At the age of 20, the BCVA was 20/125 (OD)." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260108" "04214" "00364770" "01695" "Unknown" "" "At the age of 47, the BCVA was 20/40 (OS)." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260109" "04214" "00364771" "01695" "Unknown" "" "At the age of 18, the BCVA was 20/150 (OD)." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260110" "04214" "00364772" "01695" "Familial, autosomal recessive" "" "Visual acuity: OD 1.5/10, OS 1/10. (Silence choroïdien, tâches flavimaculées et atrophie maculaire au stade de cicatrisation)" "8y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260111" "04214" "00364773" "01695" "Familial, autosomal recessive" "" "Visual acuity: OD 2.5/10, OS 3.2/10. (Silence choroïdien, tâches flavimaculées et atrophie importante de tout le pôle postérieur)" "3y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260112" "04214" "00364774" "01695" "Unknown" "" "On presentation her best-corrected visual acuity was 20/250 OD and 20/32 OS. She had worn spectacle correction for myopic astigmatism since she was a child. Her current refraction was _x005F_x0002_11.50þ5.00_x005F_x0003_085 OD and _x005F_x0002_11.00þ5.00_x005F_x0003_095 OS. No changes in color vision were detected, and there was no nystagmus or ocular misalignment. Intraocular pressure and pupillary examination were unremarkable. Fundus examination revealed atrophy OD and parafoveal yellow flecks OU. No peripheral flecks were noted. Fundus autofluorescence demonstrated central hypofluoresence surrounded by hyperautofluorescent flecks." "44y" "" "decreased central vision" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260113" "04214" "00364775" "01695" "Unknown" "" "At the age of 26, the BCVA was 0.3 (OD). Flecks at the posterior pole." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260114" "04214" "00364776" "01695" "Unknown" "" "At the age of 24, the BCVA was 1 (OD). Flecks at the posterior pole." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260115" "04214" "00364777" "01695" "Unknown" "" "At the age of 68, the BCVA was 0.6 (OD). Flecks at the posterior pole." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260116" "04214" "00364778" "01695" "Unknown" "" "At the age of 47, the BCVA was 0.8 (OS). Flecks at the posterior pole." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260117" "04214" "00364779" "01695" "Unknown" "" "At the age of 34, the BCVA was 0.7 (OD). Flecks at the posterior pole." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260118" "04214" "00364780" "01695" "Unknown" "" "At the age of 39, the BCVA was 1 (OD). Flecks at the posterior pole." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260119" "04214" "00364781" "01695" "Unknown" "" "At the age of 68, the BCVA was 0.9 (OD). Flecks at the posterior pole." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260120" "04214" "00364782" "01695" "Unknown" "" "At the age of 43, the BCVA was 0.1 (OD). Flecks at the posterior pole." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260121" "04214" "00364783" "01695" "Unknown" "" "At the age of 28, the BCVA was 0.7 (OD). Flecks at the posterior pole." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260122" "04214" "00364784" "01695" "Unknown" "" "At the age of 39, the BCVA was 0.7 (OD). Flecks at the posterior pole." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260123" "04214" "00364785" "01695" "Unknown" "" "At the age of 29, the BCVA was 0.7 (OS). Flecks at the posterior pole." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260124" "04214" "00364786" "01695" "Unknown" "" "At the age of 22, the BCVA was 1 (OD). Flecks at the posterior pole." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260125" "04214" "00364787" "01695" "Unknown" "" "At the age of 64, the BCVA was 1.1 (OD). Flecks at the posterior pole." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260126" "04214" "00364788" "01695" "Unknown" "" "At the age of 33, the BCVA was 0.6 (OS). Flecks at the posterior pole." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260127" "04214" "00364789" "01695" "Unknown" "" "At the age of 26, the BCVA was 1 (OS). Flecks at the posterior pole." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260128" "04214" "00364790" "01695" "Unknown" "" "The patient is 44 years old and presented in 1991 aged 23 with deteriorating central vision and visual acuity (VA) of 6/36 in the right eye and 6/60 in the left. Fundus photography in 1994 identified bilateral numerous yellowish-white flecks at the posterior pole. In 2003, her VA was 6/60 in each eye, with bilateral macular atrophy surrounded by flecks. Autofluorescence (AF) imaging in 2005 detected a localized low signal at the macula with numerous foci of abnormal signal. By 2008, the macular atrophy had enlarged and flecks were less apparent." "23y" "" "deteriorating central vision and visual acuity (VA) of 6/36 in the right eye and 6/60 in the left" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260129" "04214" "00364791" "01695" "Unknown" "" "At initial examination in 1994, she reported a central scotoma. VA was 6/9 in both eyes with bilateral subtle foveal atrophy and perifoveal yellowish-white flecks. By 2003, foveal atrophy had progressed with more perifoveal flecks. In 2012, her VA was 6/12 bilaterally, but fundus findings remained stable. AF imaging demonstrated a mottled signal within the central macula, optical coherence tomography showed outer retinal disruption confined to the central macula." "29y" "" "she reported a central scotoma. VA was 6/9 in both eyes with bilateral subtle foveal atrophy and perifoveal yellowish-white flecks" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260130" "04214" "00364792" "01695" "Unknown" "" "An eight year-old Hispanic female presented with bilateral ecreased vision following a febrile gastrointestinal illness with nausea and vomiting. Extensive workup involved pediatric infectious disease and rheumatology consultations. Initial visual acuity was 20/60 at distance and 20/30 at near in both eyes. Rapidly progressive vision loss occurred during a 2-year period resulting in visual acuities of 20/200 at distance in both eyes. Fundus exam disclosed attenuated vessels and multiple subretinal blister-like elevations. Optical coherence tomography showed far more lesions than were clinically evident with different levels of elevation. Autofluorescence imagery showed dramatic and widespread geographic areas of atrophy. The deposits that appeared drusen-like on clinical exam were hyperfluorescent, consistent with lipofuscin deposits containing A2e (N-retinylidene-N-retinylethanolamine) indicative of RPE cell dysfunction. Electroretinography was consistent with cone dystrophy, with relative preservation of rod function. Blood analysis and rheumatology evaluation found no evidence of a diffuse post-infectious/inflammatory process. The unique and rapid progression of her subretinal blister-like lesions was documented by fluorescein angiography, optical coherence tomography, autofluorescence imagery, and fundus photography." "8y" "" "bilateral decreased vision" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260131" "04214" "00364793" "01695" "Unknown" "" "A 10-year-old female patient (born September 7, 1999) was followed-up for 4 years by an ophthalmologist because of a progressive reduction in visual acuity: OD=0.3 and OS=0.3 in 2006, OD=0.2 and OS=0.2 in 2007, and OD=0.08 and OS=0.1 in 2010. An ophthalmoscopic examination showedyellow flecks in the maculae of both eyes. On October 13, 2006, OCT was performed, and the patient was found to have a thin (70 ?m thinner than normal) atrophic neurosensory retina in thearea of the fovea in both eyes, altered reflectivity in the layer of the photoreceptors in both eyes, and a thinner RPE in the subfoveal area in both eyes." "6y" "" "progressive reduction in visual acuity" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260132" "04214" "00364794" "01695" "Unknown" "" "retinal degeneration" "<10y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260133" "04214" "00364795" "01695" "Unknown" "" "retinal degeneration" "<19y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260134" "04214" "00364796" "01695" "Unknown" "" "retinal degeneration" "<21y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260135" "04214" "00364797" "01695" "Unknown" "" "retinal degeneration" "<21y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260136" "04214" "00364798" "01695" "Unknown" "" "retinal degeneration" "<24y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260137" "04214" "00364799" "01695" "Unknown" "" "retinal degeneration" "<28y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260138" "04214" "00364800" "01695" "Unknown" "" "retinal degeneration" "<48y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260139" "04214" "00364801" "01695" "Unknown" "" "retinal degeneration" "<49y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260140" "04214" "00364802" "01695" "Unknown" "" "retinal degeneration" "<72y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260141" "04214" "00364803" "01695" "Familial, autosomal recessive" "" "" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000260142" "04214" "00364804" "01695" "Unknown" "" "Visual acuity in the STGD1 cases was affected at age of 8–14 years. Macular atrophy was present with some hyperpigmentation and yellowish flecks of the posterior pole. The peripheral retina was preserved in young adulthood, although peripheral retinal function and visual fields diminished in adulthood. In the full-field ERGs the rod, mixed rod-cone and cone amplitudes were within normal range but the 30 Hz flicker amplitude was decreased to 40 % of normal level with prolonged implicit time." "<14y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260143" "04214" "00364805" "01695" "Unknown" "" "Visual acuity in the STGD1 cases was affected at age of 8–14 years. Macular atrophy was present with some hyperpigmentation and yellowish flecks of the posterior pole. The peripheral retina was preserved in young adulthood, although peripheral retinal function and visual fields diminished in adulthood. In the full-field ERGs the rod, mixed rod-cone and cone amplitudes were within normal range but the 30 Hz flicker amplitude was decreased to 40 % of normal level with prolonged implicit time." "<14y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260144" "04214" "00364806" "01695" "Unknown" "10y" "" "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260145" "04214" "00364807" "01695" "Unknown" "8y" "" "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260146" "04214" "00364808" "01695" "Unknown" "6y" "" "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260147" "04214" "00364809" "01695" "Unknown" "12y" "" "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260148" "04214" "00364810" "01695" "Unknown" "18y" "" "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260149" "04214" "00364811" "01695" "Unknown" "7y" "" "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260150" "04214" "00364812" "01695" "Unknown" "18y" "" "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260151" "04214" "00364813" "01695" "Unknown" "4y" "" "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260152" "04214" "00364814" "01695" "Unknown" "13y" "" "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260153" "04214" "00364815" "01695" "Unknown" "10y" "" "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260154" "04214" "00364816" "01695" "Unknown" "9y" "" "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260155" "04214" "00364817" "01695" "Unknown" "8y" "" "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260156" "04214" "00364818" "01695" "Unknown" "18y" "" "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260157" "04214" "00364819" "01695" "Unknown" "13y" "" "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260158" "04214" "00364820" "01695" "Unknown" "16y" "" "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260159" "04214" "00364821" "01695" "Unknown" "10y" "" "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260160" "04214" "00364822" "01695" "Unknown" "" "Exhibited a central form of cone dysfunction resembling occult macular dystrophy that preceded the development of lipofuscin flecks, atrophy of retinal pigment epithelium (RPE), or full-field electroretinography abnormalities. Final visual acuity was 20/100 (OD) and 20/100 (OS). OD Dark choroid, OS Window defect at the fovea" "13y1m" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260161" "04214" "00364823" "01695" "Isolated (sporadic)" "" "Exhibited a central form of cone dysfunction resembling occult macular dystrophy that preceded the development of lipofuscin flecks, atrophy of retinal pigment epithelium (RPE), or full-field electroretinography abnormalities. Final visual acuity was 20/80 (OD) and 20/70 (OS)." "15y7m" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260162" "04214" "00364824" "01695" "Familial, autosomal recessive" "" "Exhibited a central form of cone dysfunction resembling occult macular dystrophy that preceded the development of lipofuscin flecks, atrophy of retinal pigment epithelium (RPE), or full-field electroretinography abnormalities. Final visual acuity was 20/70 (OD) and 20/100 (OS)." "10y1m" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260163" "04214" "00364825" "01695" "Familial, autosomal recessive" "" "Exhibited a central form of cone dysfunction resembling occult macular dystrophy that preceded the development of lipofuscin flecks, atrophy of retinal pigment epithelium (RPE), or full-field electroretinography abnormalities. Final visual acuity was 20/25 (OD) and 20/25 (OS)." "7y3m" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260164" "04214" "00364826" "01695" "Familial, autosomal recessive" "" "Exhibited a central form of cone dysfunction resembling occult macular dystrophy that preceded the development of lipofuscin flecks, atrophy of retinal pigment epithelium (RPE), or full-field electroretinography abnormalities. Final visual acuity was 20/80 (OD) and 20/100 (OS). OD Dark choroid, OS Bull’s eye lesion at fovea Focal macular lesions" "12y1m" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260165" "04214" "00364827" "01695" "Familial, autosomal recessive" "" "Exhibited a central form of cone dysfunction resembling occult macular dystrophy that preceded the development of lipofuscin flecks, atrophy of retinal pigment epithelium (RPE), or full-field electroretinography abnormalities. Final visual acuity was 20/25 (OD) and 20/25 (OS)." "10y7m" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260166" "04214" "00364828" "01695" "Isolated (sporadic)" "" "Exhibited a central form of cone dysfunction resembling occult macular dystrophy that preceded the development of lipofuscin flecks, atrophy of retinal pigment epithelium (RPE), or full-field electroretinography abnormalities. Final visual acuity was 20/60 (OD) and 20/80 (OS)." "25y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260167" "04214" "00364829" "01695" "Unknown" "" "At the age of 21 the BCVA was 20/200" "10y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260168" "04214" "00364830" "01695" "Unknown" "" "At the age of 13 the BCVA was 20/200. Colour vision affected." "11y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260169" "04214" "00364831" "01695" "Unknown" "" "At the age of 34 the BCVA was 20/250. Colour vision affected." "10y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260170" "04214" "00364832" "01695" "Unknown" "" "At the age of 31 the BCVA was 20/400. Colour vision affected." "13y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260171" "04214" "00364833" "01695" "Unknown" "" "At the age of 23 the BCVA was 20/200. Colour vision affected." "10y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260172" "04214" "00364834" "01695" "Unknown" "" "At the age of 13 the BCVA was 20/200" "6y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260173" "04214" "00364835" "01695" "Familial, autosomal recessive" "" "" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000260174" "04214" "00364836" "01695" "Familial, autosomal recessive" "" "" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000260175" "04214" "00364837" "01695" "Familial, autosomal recessive" "" "" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000260176" "04214" "00364838" "01695" "Familial, autosomal recessive" "" "" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000260177" "04214" "00364839" "01695" "Familial, autosomal recessive" "" "" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000260178" "04214" "00364840" "01695" "Familial, autosomal recessive" "" "" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000260179" "04214" "00364841" "01695" "Unknown" "<13y" "At the age of 13 the visual acuity was 20/80 (OD) and 20/50 (OS). The Fishmann stage was 2. The FF ERG group was 1." "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260180" "04214" "00364842" "01695" "Unknown" "13y6m" "At the age of 14 the visual acuity was 20/200 (OD) and 20/150 (OS). The Fishmann stage was 1. The FF ERG group was 1." "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260181" "04214" "00364843" "01695" "Unknown" "<13y" "At the age of 13 the visual acuity was 20/40 (OD) and 20/50 (OS). The Fishmann stage was 2. The FF ERG group was 1." "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260182" "04214" "00364844" "01695" "Unknown" "<8y" "At the age of 8 the Fishmann stage was 1. The FF ERG group was not evaluated." "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260183" "04214" "00364845" "01695" "Unknown" "6y" "At the age of 10 the visual acuity was 20/200 (OD) and 20/200 (OS). The Fishmann stage was 2. The FF ERG group was 2." "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260184" "04214" "00364846" "01695" "Unknown" "8y" "At the age of 9 the visual acuity was 20/150 (OD) and 20/150 (OS). The Fishmann stage was 1. The FF ERG group was not evaluated." "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260185" "04214" "00364847" "01695" "Unknown" "14y" "At the age of 18 the visual acuity was 20/150 (OD) and 20/150 (OS). The Fishmann stage was 2. The FF ERG group was 1." "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260186" "04214" "00364848" "01695" "Unknown" "10y" "At the age of 16 the visual acuity was 20/150 (OD) and 20/150 (OS). The Fishmann stage was 1. The FF ERG group was not evaluated." "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260187" "04214" "00364849" "01695" "Unknown" "13y" "At the age of 18 the visual acuity was 20/125 (OD) and 20/50 (OS). The Fishmann stage was 2. The FF ERG group was 2." "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260188" "04214" "00364850" "01695" "Unknown" "6y" "At the age of 12 the visual acuity was 20/50 (OD) and 20/50 (OS). The Fishmann stage was 1. The FF ERG group was 1." "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260189" "04214" "00364851" "01695" "Unknown" "7y" "At the age of 10 the visual acuity was 20/400 (OD) and 20/400 (OS). The Fishmann stage was 2. The FF ERG group was 2." "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260190" "04214" "00364852" "01695" "Unknown" "12y" "At the age of 16 the visual acuity was 20/80 (OD) and 20/100 (OS). The Fishmann stage was 1. The FF ERG group was 1." "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260191" "04214" "00364853" "01695" "Unknown" "" "The Stargardt patient was initially seen clinically by one of the authors (GAF) at age 31 years for the evaluation of decreased vision that had been noted since 1st grade. Visual acuity was best corrected to 20/300 in each eye. She was diagnosed as having STGD1 based upon her fundus appearance. When last seen by GAF at age 55 years, best corrected visual acuity was 20/400 in the right eye and 8/225 in the left. Goldmann visual field testing showed a large central scotoma in each eye with normal peripheral boundaries to both II4e and V4e test targets. Her corneas and lenses were clear. Ocular pressures were 13mmHg OD and 11mmHg OS. There were extensive atrophicappearing changes in the RPE and choroid within the macula with hypopigmented lesions throughout the posterior pole consistent with partially resorbed fundus flecks." "<8y" "" "decreased vision" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260192" "04214" "00364854" "01695" "Unknown" "" "At the age of 7, the BCVA (OD) was 0.48 logMAR and the BCVA (OS) was 0.48 logMAR. Fundus type was Normal fundus. Autofluorescence type was: not available, OCT CFT (OD) was not availableum and OCT CFR (OS) was not availableum. ERG group was: PERG abnormality with normal full-field ERGs. (CFT was defined as the distance between the inner retinal surface and inner border of the retinal pigment epithelium at the central fovea)" "6y" "" "either age visual loss first noted by patient or, in “asymptomatic” patients, when abnormal retinal appearance first detected" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260193" "04214" "00364855" "01695" "Unknown" "" "At the age of 7, the BCVA (OD) was 1.30 logMAR and the BCVA (OS) was 1.20 logMAR. Fundus type was Central atrophy with macular and/or peripheral flecks. Autofluorescence type was: Localized low AF signal at the macula surrounded by a heterogeneous background and widespread foci of high or low AF signal extending anterior to the vascular arcades, OCT CFT (OD) was 60um and OCT CFR (OS) was 45um. ERG group was: PERG abnormality with additional generalized cone and rod ERG abnormality. (CFT was defined as the distance between the inner retinal surface and inner border of the retinal pigment epithelium at the central fovea)" "7y" "" "either age visual loss first noted by patient or, in “asymptomatic” patients, when abnormal retinal appearance first detected" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260194" "04214" "00364856" "01695" "Unknown" "" "At the age of 8, the BCVA (OD) was 1.00 logMAR and the BCVA (OS) was 1.00 logMAR. Fundus type was Central atrophy with macular and/or peripheral flecks. Autofluorescence type was: Localized low AF signal at the macula surrounded by a heterogeneous background and widespread foci of high or low AF signal extending anterior to the vascular arcades, OCT CFT (OD) was not availableum and OCT CFR (OS) was not availableum. ERG group was: PERG abnormality with additional generalized cone and rod ERG abnormality. (CFT was defined as the distance between the inner retinal surface and inner border of the retinal pigment epithelium at the central fovea)" "5y" "" "either age visual loss first noted by patient or, in “asymptomatic” patients, when abnormal retinal appearance first detected" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260195" "04214" "00364857" "01695" "Unknown" "" "At the age of 8, the BCVA (OD) was 1.30 logMAR and the BCVA (OS) was 1.40 logMAR. Fundus type was Central atrophy with macular and/or peripheral flecks. Autofluorescence type was: Localized low AF signal at the macula surrounded by a heterogeneous background and widespread foci of high or low AF signal extending anterior to the vascular arcades, OCT CFT (OD) was 49um and OCT CFR (OS) was 44um. ERG group was: not available. (CFT was defined as the distance between the inner retinal surface and inner border of the retinal pigment epithelium at the central fovea)" "7y" "" "either age visual loss first noted by patient or, in “asymptomatic” patients, when abnormal retinal appearance first detected" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260196" "04214" "00364858" "01695" "Unknown" "" "At the age of 8, the BCVA (OD) was 0.48 logMAR and the BCVA (OS) was 0.40 logMAR. Fundus type was Central atrophy without flecks. Autofluorescence type was: Localized low AF signal at the fovea surrounded by a homogeneous background with/without perifoveal foci of high or low signal, OCT CFT (OD) was 46um and OCT CFR (OS) was 38um. ERG group was: PERG abnormality with normal full-field ERGs. (CFT was defined as the distance between the inner retinal surface and inner border of the retinal pigment epithelium at the central fovea)" "7y" "" "either age visual loss first noted by patient or, in “asymptomatic” patients, when abnormal retinal appearance first detected" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260197" "04214" "00364859" "01695" "Unknown" "" "At the age of 8, the BCVA (OD) was 0.48 logMAR and the BCVA (OS) was 0.48 logMAR. Fundus type was Central atrophy without flecks. Autofluorescence type was: Localized low AF signal at the macula surrounded by a heterogeneous background and widespread foci of high or low AF signal extending anterior to the vascular arcades, OCT CFT (OD) was not availableum and OCT CFR (OS) was not availableum. ERG group was: PERG abnormality with additional generalized cone and rod ERG abnormality. (CFT was defined as the distance between the inner retinal surface and inner border of the retinal pigment epithelium at the central fovea)" "6y" "" "either age visual loss first noted by patient or, in “asymptomatic” patients, when abnormal retinal appearance first detected" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260198" "04214" "00364860" "01695" "Unknown" "" "At the age of 9, the BCVA (OD) was 0.60 logMAR and the BCVA (OS) was 0.20 logMAR. Fundus type was Central atrophy with macular and/or peripheral flecks. Autofluorescence type was: Localized low AF signal at the macula surrounded by a heterogeneous background and widespread foci of high or low AF signal extending anterior to the vascular arcades, OCT CFT (OD) was 61um and OCT CFR (OS) was 67um. ERG group was: not available. (CFT was defined as the distance between the inner retinal surface and inner border of the retinal pigment epithelium at the central fovea)" "7y" "" "either age visual loss first noted by patient or, in “asymptomatic” patients, when abnormal retinal appearance first detected" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260199" "04214" "00364861" "01695" "Unknown" "" "At the age of 9, the BCVA (OD) was 0.70 logMAR and the BCVA (OS) was 0.70 logMAR. Fundus type was Central atrophy with macular and/or peripheral flecks. Autofluorescence type was: Localized low AF signal at the macula surrounded by a heterogeneous background and widespread foci of high or low AF signal extending anterior to the vascular arcades, OCT CFT (OD) was 69um and OCT CFR (OS) was 65um. ERG group was: PERG abnormality with additional generalized cone and rod ERG abnormality. (CFT was defined as the distance between the inner retinal surface and inner border of the retinal pigment epithelium at the central fovea)" "8y" "" "either age visual loss first noted by patient or, in “asymptomatic” patients, when abnormal retinal appearance first detected" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260200" "04214" "00364862" "01695" "Unknown" "" "At the age of 9, the BCVA (OD) was 0.48 logMAR and the BCVA (OS) was 0.48 logMAR. Fundus type was Central atrophy with macular and/or peripheral flecks. Autofluorescence type was: Localized low AF signal at the macula surrounded by a heterogeneous background and widespread foci of high or low AF signal extending anterior to the vascular arcades, OCT CFT (OD) was not availableum and OCT CFR (OS) was not availableum. ERG group was: PERG abnormality with additional generalized cone and rod ERG abnormality. (CFT was defined as the distance between the inner retinal surface and inner border of the retinal pigment epithelium at the central fovea)" "9y" "" "either age visual loss first noted by patient or, in “asymptomatic” patients, when abnormal retinal appearance first detected" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260201" "04214" "00364863" "01695" "Unknown" "" "At the age of 9, the BCVA (OD) was 1.00 logMAR and the BCVA (OS) was 1.00 logMAR. Fundus type was Central atrophy with macular and/or peripheral flecks. Autofluorescence type was: Localized low AF signal at the macula surrounded by a heterogeneous background and widespread foci of high or low AF signal extending anterior to the vascular arcades, OCT CFT (OD) was not availableum and OCT CFR (OS) was not availableum. ERG group was: PERG abnormality with normal full-field ERGs. (CFT was defined as the distance between the inner retinal surface and inner border of the retinal pigment epithelium at the central fovea)" "8y" "" "either age visual loss first noted by patient or, in “asymptomatic” patients, when abnormal retinal appearance first detected" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260202" "04214" "00364864" "01695" "Unknown" "" "At the age of 9, the BCVA (OD) was 0.48 logMAR and the BCVA (OS) was 0.48 logMAR. Fundus type was Central atrophy without flecks. Autofluorescence type was: Localized low AF signal at the fovea surrounded by a homogeneous background with/without perifoveal foci of high or low signal, OCT CFT (OD) was 35um and OCT CFR (OS) was 45um. ERG group was: not available. (CFT was defined as the distance between the inner retinal surface and inner border of the retinal pigment epithelium at the central fovea)" "7y" "" "either age visual loss first noted by patient or, in “asymptomatic” patients, when abnormal retinal appearance first detected" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260203" "04214" "00364865" "01695" "Unknown" "" "At the age of 9, the BCVA (OD) was 0.60 logMAR and the BCVA (OS) was 0.48 logMAR. Fundus type was Central atrophy with macular and/or peripheral flecks. Autofluorescence type was: Localized low AF signal at the macula surrounded by a heterogeneous background and widespread foci of high or low AF signal extending anterior to the vascular arcades, OCT CFT (OD) was not availableum and OCT CFR (OS) was not availableum. ERG group was: PERG abnormality with normal full-field ERGs. (CFT was defined as the distance between the inner retinal surface and inner border of the retinal pigment epithelium at the central fovea)" "8y" "" "either age visual loss first noted by patient or, in “asymptomatic” patients, when abnormal retinal appearance first detected" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260204" "04214" "00364866" "01695" "Unknown" "" "At the age of 10, the BCVA (OD) was 0.80 logMAR and the BCVA (OS) was 0.80 logMAR. Fundus type was Central atrophy without flecks. Autofluorescence type was: Localized low AF signal at the fovea surrounded by a homogeneous background with/without perifoveal foci of high or low signal, OCT CFT (OD) was 54um and OCT CFR (OS) was 54um. ERG group was: PERG abnormality with additional generalized cone and rod ERG abnormality. (CFT was defined as the distance between the inner retinal surface and inner border of the retinal pigment epithelium at the central fovea)" "5y" "" "either age visual loss first noted by patient or, in “asymptomatic” patients, when abnormal retinal appearance first detected" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260205" "04214" "00364867" "01695" "Unknown" "" "At the age of 10, the BCVA (OD) was 1.00 logMAR and the BCVA (OS) was 1.00 logMAR. Fundus type was Central atrophy with macular and/or peripheral flecks. Autofluorescence type was: Localized low AF signal at the macula surrounded by a heterogeneous background and widespread foci of high or low AF signal extending anterior to the vascular arcades, OCT CFT (OD) was not availableum and OCT CFR (OS) was not availableum. ERG group was: not available. (CFT was defined as the distance between the inner retinal surface and inner border of the retinal pigment epithelium at the central fovea)" "8y" "" "either age visual loss first noted by patient or, in “asymptomatic” patients, when abnormal retinal appearance first detected" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260206" "04214" "00364868" "01695" "Unknown" "" "At the age of 10, the BCVA (OD) was 0.30 logMAR and the BCVA (OS) was 0.30 logMAR. Fundus type was Central atrophy with macular and/or peripheral flecks. Autofluorescence type was: Localized low AF signal at the macula surrounded by a heterogeneous background and widespread foci of high or low AF signal extending anterior to the vascular arcades, OCT CFT (OD) was 72um and OCT CFR (OS) was 81um. ERG group was: not available. (CFT was defined as the distance between the inner retinal surface and inner border of the retinal pigment epithelium at the central fovea)" "5y" "" "either age visual loss first noted by patient or, in “asymptomatic” patients, when abnormal retinal appearance first detected" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260207" "04214" "00364869" "01695" "Unknown" "" "At the age of 11, the BCVA (OD) was 0.50 logMAR and the BCVA (OS) was 0.40 logMAR. Fundus type was Central atrophy with macular and/or peripheral flecks. Autofluorescence type was: Localized low AF signal at the macula surrounded by a heterogeneous background and widespread foci of high or low AF signal extending anterior to the vascular arcades, OCT CFT (OD) was 94um and OCT CFR (OS) was 107um. ERG group was: PERG abnormality with additional generalized cone and rod ERG abnormality. (CFT was defined as the distance between the inner retinal surface and inner border of the retinal pigment epithelium at the central fovea)" "9y" "" "either age visual loss first noted by patient or, in “asymptomatic” patients, when abnormal retinal appearance first detected" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260208" "04214" "00364870" "01695" "Unknown" "" "At the age of 11, the BCVA (OD) was 0.78 logMAR and the BCVA (OS) was 0.78 logMAR. Fundus type was Central atrophy with macular and/or peripheral flecks. Autofluorescence type was: Localized low AF signal at the macula surrounded by a heterogeneous background and widespread foci of high or low AF signal extending anterior to the vascular arcades, OCT CFT (OD) was 61um and OCT CFR (OS) was 66um. ERG group was: PERG abnormality with additional generalized cone and rod ERG abnormality. (CFT was defined as the distance between the inner retinal surface and inner border of the retinal pigment epithelium at the central fovea)" "10y" "" "either age visual loss first noted by patient or, in “asymptomatic” patients, when abnormal retinal appearance first detected" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260209" "04214" "00364871" "01695" "Unknown" "" "At the age of 11, the BCVA (OD) was 0.54 logMAR and the BCVA (OS) was 0.12 logMAR. Fundus type was Macular and/or peripheral flecks without central atrophy. Autofluorescence type was: Localized low AF signal at the macula surrounded by a heterogeneous background and widespread foci of high or low AF signal extending anterior to the vascular arcades, OCT CFT (OD) was 61um and OCT CFR (OS) was 70um. ERG group was: PERG abnormality with normal full-field ERGs. (CFT was defined as the distance between the inner retinal surface and inner border of the retinal pigment epithelium at the central fovea)" "10y" "" "either age visual loss first noted by patient or, in “asymptomatic” patients, when abnormal retinal appearance first detected" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260210" "04214" "00364872" "01695" "Unknown" "" "At the age of 11, the BCVA (OD) was 1.00 logMAR and the BCVA (OS) was 1.00 logMAR. Fundus type was Central atrophy with macular and/or peripheral flecks. Autofluorescence type was: Localized low AF signal at the macula surrounded by a heterogeneous background and widespread foci of high or low AF signal extending anterior to the vascular arcades, OCT CFT (OD) was not availableum and OCT CFR (OS) was not availableum. ERG group was: not available. (CFT was defined as the distance between the inner retinal surface and inner border of the retinal pigment epithelium at the central fovea)" "8y" "" "either age visual loss first noted by patient or, in “asymptomatic” patients, when abnormal retinal appearance first detected" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260211" "04214" "00364873" "01695" "Unknown" "" "At the age of 12, the BCVA (OD) was 1.00 logMAR and the BCVA (OS) was 0.90 logMAR. Fundus type was Central atrophy with macular and/or peripheral flecks. Autofluorescence type was: Localized low AF signal at the macula surrounded by a heterogeneous background and widespread foci of high or low AF signal extending anterior to the vascular arcades, OCT CFT (OD) was 37um and OCT CFR (OS) was 41um. ERG group was: not available. (CFT was defined as the distance between the inner retinal surface and inner border of the retinal pigment epithelium at the central fovea)" "11y" "" "either age visual loss first noted by patient or, in “asymptomatic” patients, when abnormal retinal appearance first detected" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260212" "04214" "00364874" "01695" "Unknown" "" "At the age of 12, the BCVA (OD) was 1.30 logMAR and the BCVA (OS) was 1.30 logMAR. Fundus type was Central atrophy with macular and/or peripheral flecks. Autofluorescence type was: Localized low AF signal at the macula surrounded by a heterogeneous background and widespread foci of high or low AF signal extending anterior to the vascular arcades, OCT CFT (OD) was 78um and OCT CFR (OS) was 84um. ERG group was: not available. (CFT was defined as the distance between the inner retinal surface and inner border of the retinal pigment epithelium at the central fovea)" "8y" "" "either age visual loss first noted by patient or, in “asymptomatic” patients, when abnormal retinal appearance first detected" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260213" "04214" "00364875" "01695" "Unknown" "" "At the age of 12, the BCVA (OD) was 1.00 logMAR and the BCVA (OS) was 1.00 logMAR. Fundus type was Central atrophy without flecks. Autofluorescence type was: Localized low AF signal at the macula surrounded by a heterogeneous background and widespread foci of high or low AF signal extending anterior to the vascular arcades, OCT CFT (OD) was not availableum and OCT CFR (OS) was not availableum. ERG group was: not available. (CFT was defined as the distance between the inner retinal surface and inner border of the retinal pigment epithelium at the central fovea)" "3y" "" "either age visual loss first noted by patient or, in “asymptomatic” patients, when abnormal retinal appearance first detected" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260214" "04214" "00364876" "01695" "Unknown" "" "At the age of 13, the BCVA (OD) was 0.50 logMAR and the BCVA (OS) was 0.60 logMAR. Fundus type was Central atrophy without flecks. Autofluorescence type was: Localized low AF signal at the fovea surrounded by a homogeneous background with/without perifoveal foci of high or low signal, OCT CFT (OD) was 138um and OCT CFR (OS) was 140um. ERG group was: PERG abnormality with normal full-field ERGs. (CFT was defined as the distance between the inner retinal surface and inner border of the retinal pigment epithelium at the central fovea)" "9y" "" "either age visual loss first noted by patient or, in “asymptomatic” patients, when abnormal retinal appearance first detected" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260215" "04214" "00364877" "01695" "Unknown" "" "At the age of 13, the BCVA (OD) was 1.30 logMAR and the BCVA (OS) was 1.10 logMAR. Fundus type was Central atrophy with macular and/or peripheral flecks. Autofluorescence type was: Localized low AF signal at the macula surrounded by a heterogeneous background and widespread foci of high or low AF signal extending anterior to the vascular arcades, OCT CFT (OD) was 33um and OCT CFR (OS) was 35um. ERG group was: PERG abnormality with additional generalized cone and rod ERG abnormality. (CFT was defined as the distance between the inner retinal surface and inner border of the retinal pigment epithelium at the central fovea)" "6y" "" "either age visual loss first noted by patient or, in “asymptomatic” patients, when abnormal retinal appearance first detected" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260216" "04214" "00364878" "01695" "Unknown" "" "At the age of 13, the BCVA (OD) was 1.00 logMAR and the BCVA (OS) was 1.18 logMAR. Fundus type was Central atrophy with macular and/or peripheral flecks. Autofluorescence type was: not available, OCT CFT (OD) was not availableum and OCT CFR (OS) was not availableum. ERG group was: not available. (CFT was defined as the distance between the inner retinal surface and inner border of the retinal pigment epithelium at the central fovea)" "8y" "" "either age visual loss first noted by patient or, in “asymptomatic” patients, when abnormal retinal appearance first detected" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260217" "04214" "00364879" "01695" "Unknown" "" "At the age of 14, the BCVA (OD) was 0.90 logMAR and the BCVA (OS) was 0.80 logMAR. Fundus type was Central atrophy with macular and/or peripheral flecks. Autofluorescence type was: Localized low AF signal at the macula surrounded by a heterogeneous background and widespread foci of high or low AF signal extending anterior to the vascular arcades, OCT CFT (OD) was 73um and OCT CFR (OS) was 67um. ERG group was: not available. (CFT was defined as the distance between the inner retinal surface and inner border of the retinal pigment epithelium at the central fovea)" "11y" "" "either age visual loss first noted by patient or, in “asymptomatic” patients, when abnormal retinal appearance first detected" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260218" "04214" "00364880" "01695" "Unknown" "" "At the age of 14, the BCVA (OD) was 0.48 logMAR and the BCVA (OS) was 0.48 logMAR. Fundus type was Central atrophy without flecks. Autofluorescence type was: Localized low AF signal at the fovea surrounded by a homogeneous background with/without perifoveal foci of high or low signal, OCT CFT (OD) was not availableum and OCT CFR (OS) was not availableum. ERG group was: PERG abnormality with normal full-field ERGs. (CFT was defined as the distance between the inner retinal surface and inner border of the retinal pigment epithelium at the central fovea)" "12y" "" "either age visual loss first noted by patient or, in “asymptomatic” patients, when abnormal retinal appearance first detected" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260219" "04214" "00364881" "01695" "Unknown" "" "At the age of 14, the BCVA (OD) was 1.00 logMAR and the BCVA (OS) was 1.00 logMAR. Fundus type was not available. Autofluorescence type was: not available, OCT CFT (OD) was not availableum and OCT CFR (OS) was not availableum. ERG group was: PERG abnormality with additional generalized cone and rod ERG abnormality. (CFT was defined as the distance between the inner retinal surface and inner border of the retinal pigment epithelium at the central fovea)" "10y" "" "either age visual loss first noted by patient or, in “asymptomatic” patients, when abnormal retinal appearance first detected" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260220" "04214" "00364882" "01695" "Unknown" "" "At the age of 14, the BCVA (OD) was 0.18 logMAR and the BCVA (OS) was 0.20 logMAR. Fundus type was Central atrophy without flecks. Autofluorescence type was: Localized low AF signal at the fovea surrounded by a homogeneous background with/without perifoveal foci of high or low signal, OCT CFT (OD) was 126um and OCT CFR (OS) was 134um. ERG group was: PERG abnormality with normal full-field ERGs. (CFT was defined as the distance between the inner retinal surface and inner border of the retinal pigment epithelium at the central fovea)" "11y" "" "either age visual loss first noted by patient or, in “asymptomatic” patients, when abnormal retinal appearance first detected" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260221" "04214" "00364883" "01695" "Unknown" "" "At the age of 15, the BCVA (OD) was 1.00 logMAR and the BCVA (OS) was 1.00 logMAR. Fundus type was Central atrophy with macular and/or peripheral flecks. Autofluorescence type was: Localized low AF signal at the macula surrounded by a heterogeneous background and widespread foci of high or low AF signal extending anterior to the vascular arcades, OCT CFT (OD) was 48um and OCT CFR (OS) was 49um. ERG group was: PERG abnormality with additional generalized cone and rod ERG abnormality. (CFT was defined as the distance between the inner retinal surface and inner border of the retinal pigment epithelium at the central fovea)" "12y" "" "either age visual loss first noted by patient or, in “asymptomatic” patients, when abnormal retinal appearance first detected" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260222" "04214" "00364884" "01695" "Unknown" "" "At the age of 15, the BCVA (OD) was 0.50 logMAR and the BCVA (OS) was 0.50 logMAR. Fundus type was Central atrophy without flecks. Autofluorescence type was: Localized low AF signal at the fovea surrounded by a homogeneous background with/without perifoveal foci of high or low signal, OCT CFT (OD) was 46um and OCT CFR (OS) was 50um. ERG group was: PERG abnormality with additional generalized cone and rod ERG abnormality. (CFT was defined as the distance between the inner retinal surface and inner border of the retinal pigment epithelium at the central fovea)" "12y" "" "either age visual loss first noted by patient or, in “asymptomatic” patients, when abnormal retinal appearance first detected" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260223" "04214" "00364885" "01695" "Unknown" "" "At the age of 15, the BCVA (OD) was 1.00 logMAR and the BCVA (OS) was 1.00 logMAR. Fundus type was Central atrophy with macular and/or peripheral flecks. Autofluorescence type was: Localized low AF signal at the macula surrounded by a heterogeneous background and widespread foci of high or low AF signal extending anterior to the vascular arcades, OCT CFT (OD) was 60um and OCT CFR (OS) was 55um. ERG group was: PERG abnormality with additional generalized cone ERG abnormality. (CFT was defined as the distance between the inner retinal surface and inner border of the retinal pigment epithelium at the central fovea)" "12y" "" "either age visual loss first noted by patient or, in “asymptomatic” patients, when abnormal retinal appearance first detected" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260224" "04214" "00364886" "01695" "Unknown" "" "At the age of 15, the BCVA (OD) was 0.18 logMAR and the BCVA (OS) was 0.18 logMAR. Fundus type was Central atrophy with macular and/or peripheral flecks. Autofluorescence type was: Localized low AF signal at the fovea surrounded by a homogeneous background with/without perifoveal foci of high or low signal, OCT CFT (OD) was 44um and OCT CFR (OS) was 51um. ERG group was: not available. (CFT was defined as the distance between the inner retinal surface and inner border of the retinal pigment epithelium at the central fovea)" "14y" "" "either age visual loss first noted by patient or, in “asymptomatic” patients, when abnormal retinal appearance first detected" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260225" "04214" "00364887" "01695" "Unknown" "" "At the age of 15, the BCVA (OD) was 1.00 logMAR and the BCVA (OS) was 1.00 logMAR. Fundus type was Central atrophy with macular and/or peripheral flecks. Autofluorescence type was: not available, OCT CFT (OD) was not availableum and OCT CFR (OS) was not availableum. ERG group was: not available. (CFT was defined as the distance between the inner retinal surface and inner border of the retinal pigment epithelium at the central fovea)" "13y" "" "either age visual loss first noted by patient or, in “asymptomatic” patients, when abnormal retinal appearance first detected" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260226" "04214" "00364888" "01695" "Unknown" "" "At the age of 15, the BCVA (OD) was 0.80 logMAR and the BCVA (OS) was 0.80 logMAR. Fundus type was Central atrophy with macular and/or peripheral flecks. Autofluorescence type was: Localized low AF signal at the fovea surrounded by a homogeneous background with/without perifoveal foci of high or low signal, OCT CFT (OD) was not availableum and OCT CFR (OS) was not availableum. ERG group was: not available. (CFT was defined as the distance between the inner retinal surface and inner border of the retinal pigment epithelium at the central fovea)" "12y" "" "either age visual loss first noted by patient or, in “asymptomatic” patients, when abnormal retinal appearance first detected" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260227" "04214" "00364889" "01695" "Unknown" "" "At the age of 16, the BCVA (OD) was 0.48 logMAR and the BCVA (OS) was 0.48 logMAR. Fundus type was not available. Autofluorescence type was: not available, OCT CFT (OD) was not availableum and OCT CFR (OS) was not availableum. ERG group was: not available. (CFT was defined as the distance between the inner retinal surface and inner border of the retinal pigment epithelium at the central fovea)" "16y" "" "either age visual loss first noted by patient or, in “asymptomatic” patients, when abnormal retinal appearance first detected" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260228" "04214" "00364890" "01695" "Unknown" "" "At the age of 16, the BCVA (OD) was 1.00 logMAR and the BCVA (OS) was 1.00 logMAR. Fundus type was not available. Autofluorescence type was: not available, OCT CFT (OD) was not availableum and OCT CFR (OS) was not availableum. ERG group was: not available. (CFT was defined as the distance between the inner retinal surface and inner border of the retinal pigment epithelium at the central fovea)" "13y" "" "either age visual loss first noted by patient or, in “asymptomatic” patients, when abnormal retinal appearance first detected" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260229" "04214" "00364891" "01695" "Unknown" "" "At the age of 16, the BCVA (OD) was 0.18 logMAR and the BCVA (OS) was 0.18 logMAR. Fundus type was Central atrophy without flecks. Autofluorescence type was: Localized low AF signal at the fovea surrounded by a homogeneous background with/without perifoveal foci of high or low signal, OCT CFT (OD) was not availableum and OCT CFR (OS) was not availableum. ERG group was: not available. (CFT was defined as the distance between the inner retinal surface and inner border of the retinal pigment epithelium at the central fovea)" "14y" "" "either age visual loss first noted by patient or, in “asymptomatic” patients, when abnormal retinal appearance first detected" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260230" "04214" "00364892" "01695" "Unknown" "" "At the age of 35.5, the BCVA was 0.8logMar (OD) and 0.8logMAR (OS). The near-infrared-AF and short-wavelength-AF images showed: central lesion with jagged border" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260231" "04214" "00364893" "01695" "Unknown" "" "At the age of 11.4, the BCVA was 0.5logMar (OD) and 0.6logMAR (OS). The near-infrared-AF and short-wavelength-AF images showed: central lesion with smooth border and no hyperautofluorescent NIR-AF ring" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260232" "04214" "00364894" "01695" "Unknown" "" "At the age of 8.2, the BCVA was -0.9logMar (OD) and 0.9logMAR (OS). The near-infrared-AF and short-wavelength-AF images showed: central lesion with smooth border and no hyperautofluorescent NIR-AF ring" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260233" "04214" "00364895" "01695" "Unknown" "" "At the age of 17.9, the BCVA was 0.7logMar (OD) and 0.9logMAR (OS). The near-infrared-AF and short-wavelength-AF images showed: central lesion with smooth border and hyperautofluorescent SW-AF and NIR-AF ring" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260234" "04214" "00364896" "01695" "Unknown" "" "At the age of 12.1, the BCVA was 0.8logMar (OD) and 0.7logMAR (OS). The near-infrared-AF and short-wavelength-AF images showed: central lesion with smooth border and hyperautofluorescent SW-AF and NIR-AF ring" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260235" "04214" "00364897" "01695" "Unknown" "" "At the age of 46.4, the BCVA was 0.3logMar (OD) and 0.8logMAR (OS). The near-infrared-AF and short-wavelength-AF images showed: lesion with extensive fundus changes" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260236" "04214" "00364898" "01695" "Unknown" "" "At the age of 42.6, the BCVA was 1.3logMar (OD) and 1.3logMAR (OS). The near-infrared-AF and short-wavelength-AF images showed: lesion with extensive fundus changes" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260237" "04214" "00364899" "01695" "Unknown" "" "At the age of 42.8, the BCVA was 0.9logMar (OD) and 0.4logMAR (OS). The near-infrared-AF and short-wavelength-AF images showed: central lesion with jagged border" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260238" "04214" "00364900" "01695" "Unknown" "" "At the age of 25.3, the BCVA was 0logMar (OD) and 0.3logMAR (OS). The near-infrared-AF and short-wavelength-AF images showed: central lesion with smooth border and hyperautofluorescent SW-AF and NIR-AF ring" "<26y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260239" "04214" "00364901" "01695" "Unknown" "" "At the age of 8.5, the BCVA was n/alogMar (OD) and (n/a)logMAR (OS). The near-infrared-AF and short-wavelength-AF images showed: central lesion with smooth border and no hyperautofluorescent NIR-AF ring" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260240" "04214" "00364902" "01695" "Unknown" "" "At the age of 19.7, the BCVA was 0.9logMar (OD) and 0.9logMAR (OS). The near-infrared-AF and short-wavelength-AF images showed: discrete central lesions better visualized in NIR-AF images" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260241" "04214" "00364903" "01695" "Unknown" "" "At the age of 22.4, the BCVA was 0.8logMar (OD) and 0.8logMAR (OS). The near-infrared-AF and short-wavelength-AF images showed: central lesion with smooth border and hyperautofluorescent SW-AF and NIR-AF ring" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260242" "04214" "00364904" "01695" "Unknown" "" "At the age of 20.2, the BCVA was 0.9logMar (OD) and 0.9logMAR (OS). The near-infrared-AF and short-wavelength-AF images showed: central lesion with jagged border" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260243" "04214" "00364905" "01695" "Unknown" "" "At the age of 27.6, the BCVA was 0logMar (OD) and 0logMAR (OS). The near-infrared-AF and short-wavelength-AF images showed: central lesion with smooth border and hyperautofluorescent SW-AF and NIR-AF ring" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260244" "04214" "00364906" "01695" "Unknown" "" "At the age of 26.8, the BCVA was 0.5logMar (OD) and 0.5logMAR (OS). The near-infrared-AF and short-wavelength-AF images showed: central lesion with jagged border" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260245" "04214" "00364907" "01695" "Unknown" "" "At the age of 24.9, the BCVA was 0.9logMar (OD) and 0.9logMAR (OS). The near-infrared-AF and short-wavelength-AF images showed: discrete central lesions better visualized in NIR-AF images" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260246" "04214" "00364908" "01695" "Unknown" "" "At the age of 13.2, the BCVA was 0.9logMar (OD) and 1logMAR (OS). The near-infrared-AF and short-wavelength-AF images showed: central lesion with smooth border and hyperautofluorescent SW-AF and NIR-AF ring" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260247" "04214" "00364909" "01695" "Unknown" "" "At the age of 61, the BCVA was 2logMar (OD) and 0logMAR (OS). The near-infrared-AF and short-wavelength-AF images showed: lesion with extensive fundus changes" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260248" "04214" "00364910" "01695" "Unknown" "" "At the age of 36.3, the BCVA was 1.3logMar (OD) and 0.1logMAR (OS). The near-infrared-AF and short-wavelength-AF images showed: central lesion with jagged border" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260249" "04214" "00364911" "01695" "Unknown" "" "At the age of 14.1, the BCVA was 1logMar (OD) and 0.9logMAR (OS). The near-infrared-AF and short-wavelength-AF images showed: lesion with extensive fundus changes" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260250" "04214" "00364912" "01695" "Unknown" "" "At the age of 18.6, the BCVA was 0.9logMar (OD) and 0.9logMAR (OS). The near-infrared-AF and short-wavelength-AF images showed: central lesion with smooth border and hyperautofluorescent SW-AF and NIR-AF ring" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260251" "04214" "00364913" "01695" "Unknown" "" "At the age of 53.3, the BCVA was 0.3logMar (OD) and -0.2logMAR (OS). The near-infrared-AF and short-wavelength-AF images showed: lesion with extensive fundus changes" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260252" "04214" "00364914" "01695" "Familial, autosomal recessive" "" "A 31-year-old man presented to our clinic with a history of bilateral reduced vision since the age of 22 years. At examination, best-corrected Snellen visual acuity was 20/200 in both eyes. Results of anterior segment examination and intraocular pressure were within normal limits. Funduscopy and red-free photography showed bilateral central macular atrophy and numerous yellow flecks in the posterior pole. Fluorescein angiography revealed a central region of hyperfluorescence surrounded by diffuse “dark choroids”. Optical coherence tomography showed reduced central macular thickness in both eyes, and electroretinographic response was within normal limits." "22y" "" "bilateral reduced vision" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260253" "04214" "00364915" "01695" "Familial, autosomal recessive" "" "The eldest sister of Patient 1 is an otherwise healthy 26-year-old woman. Since the age of 23 years, she had developed bilateral progressive blurred vision. At examination, best-corrected Snellen visual acuity was 20/400 in the right eye and 20/200 in the left eye. Results of anterior segment examination and intraocular pressure were within normal limits. Results of funduscopy, fluorescein angiography, optical coherence tomography, and electrophysiologic tests overlapped those for Patient 1." "23y" "" "bilateral progressive blurred vision" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260254" "04214" "00364916" "01695" "Unknown" "" "At the age of 22, the visual acuity was 20/100 (OD) and 20/100 (OS). Ophthalmoscopy showed: Yellowish white flecks in parafoveal area, central parafoveal pigment alterations, bullseye-like appearance. Fluorescence angiography showed: No dark choroid. Electroretinoscophy showed: Within normal limits. The Stargardt type was: perifoveal type." "19y" "" "First record of visual loss. Visual acuity was 20/40(OD) and 20/40(OS)." "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260255" "04214" "00364917" "01695" "Unknown" "" "At the age of 49, the visual acuity was 20/16 (OD) and 20/20 (OS). Ophthalmoscopy showed: Yellowish flecks throughout the posterior pole extending anterior to the vascular arcades and peripapillary region. Fluorescence angiography showed: No dark choroid, but cSLO recording, which may mask the dark choroid sign. Electroretinoscophy showed: Within normal limits. The Stargardt type was: fundus flavimaculatus type." "46y" "" "First record of visual loss. Visual acuity was 20/16(OD) and 20/12.5(OS)." "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260256" "04214" "00364918" "01695" "Unknown" "" "At the age of 12, the visual acuity was 20/400 (OD) and 20/400 (OS). Ophthalmoscopy showed: Yellowish white flecks in para- and perifoveal area, central RPE alterations. Fluorescence angiography showed: No dark choroid. Electroretinoscophy showed: OD photopic: moderately reduced, OS pathologically reduced (lowered amplitude). The Stargardt type was: perifoveal type." "10y" "" "First record of visual loss. Visual acuity was 20/400(OD) and 20/400(OS)." "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260257" "04214" "00364919" "01695" "Unknown" "" "At the age of 15, the visual acuity was 20/160 (OD) and 20/125 (OS). Ophthalmoscopy showed: Central RPE alterations and widespread atrophic lesions throughout the posterior pole extending anterior to the vascular arcades. Fluorescence angiography showed: Diffuse hyperfluorescent lesions. Electroretinoscophy showed: Photopic moderately reduced. The Stargardt type was: diffuse atrophic type." "11y" "" "First record of visual loss. Visual acuity was 20/125(OD) and 20/125(OS)." "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260258" "04214" "00364920" "01695" "Unknown" "" "At the age of 36, the visual acuity was CF (OD) and CF (OS). Ophthalmoscopy showed: Central RPE alterations with intraretinal pigmentations; small atrophic lesions (presumably resorbed yellow flecks) scattered throughout the posterior pole extending anterior to the vascular arcades. Fluorescence angiography showed: Not performed . Electroretinoscophy showed: OD and OS photopic moderately reduced, OD scotopic moderately reduced, OS scotopic pathologically reduced. The Stargardt type was: diffuse atrophic type." "12y4m" "" "First record of visual loss. Visual acuity was 20/400(OD) and CF(OS)." "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260259" "04214" "00364921" "01695" "Unknown" "" "A 20-year-old woman with no significant medical or family history presented to her optometrist for a refraction. Her best corrected Snellen visual acuity was 20/25 bilaterally. She reported no photopsia or night or peripheral vision problems. Clinical examination revealed a bilaterally symmetric bull’s eye maculopathy. Visual field testing revealed bilateral incomplete central ring scotomas, and Ishihara pseudoisochromatic plates showed normal color vision. Full-field flash ERGs revealed essentially normal scotopic, photopic, and 30 Hz flicker responses." "20y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260260" "04214" "00364922" "01695" "Unknown" "" "At the age of 36: Macular degeneration, Visual fields: Peripheral islands. Visual acuity OD: 0.03, OS: 0.01" "10y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260261" "04214" "00364923" "01695" "Unknown" "" "At the age of 12, The visual acuity was 0.5logMAR (OD) and 0.5logMAR (OS)." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260262" "04214" "00364924" "01695" "Unknown" "" "At the age of 13.89, The visual acuity was 0.4logMAR (OD) and 0.4logMAR (OS)." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260263" "04214" "00364925" "01695" "Unknown" "" "At the age of 46.93, The visual acuity was 0.3logMAR (OD) and 0.4logMAR (OS)." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260264" "04214" "00364926" "01695" "Unknown" "" "At the age of 26.82, The visual acuity was 0logMAR (OD) and 0logMAR (OS)." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260265" "04214" "00364927" "01695" "Unknown" "" "At the age of 48.36, The visual acuity was 0logMAR (OD) and 0logMAR (OS)." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260266" "04214" "00364928" "01695" "Unknown" "" "At the age of 35.33, The visual acuity was 0.9logMAR (OD) and 0.1logMAR (OS)." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260267" "04214" "00364929" "01695" "Unknown" "" "At the age of 54.03, The visual acuity was 0.3logMAR (OD) and 0.2logMAR (OS)." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260268" "04214" "00364930" "01695" "Unknown" "" "" "<22y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260269" "04214" "00364931" "01695" "Unknown" "" "" "<34y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260270" "04214" "00364932" "01695" "Unknown" "" "" "<18y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260271" "04214" "00364933" "01695" "Unknown" "" "" "<7y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260272" "04214" "00364934" "01695" "Unknown" "" "" "<34y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260273" "04214" "00364935" "01695" "Unknown" "" "" "<22y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260274" "04214" "00364936" "01695" "Unknown" "" "" "<28y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260275" "04214" "00364937" "01695" "Unknown" "" "" "<16y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260276" "04214" "00364938" "01695" "Unknown" "" "" "<18y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260277" "04214" "00364939" "01695" "Unknown" "" "" "<19y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260278" "04214" "00364940" "01695" "Unknown" "" "" "<28y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260279" "04214" "00364941" "01695" "Unknown" "" "" "<35y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260280" "04214" "00364942" "01695" "Unknown" "" "" "<10y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260281" "04214" "00364943" "01695" "Unknown" "" "" "<19y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260282" "04214" "00364944" "01695" "Unknown" "" "" "<9y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260283" "04214" "00364945" "01695" "Unknown" "" "" "<37y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260284" "04214" "00364946" "01695" "Unknown" "" "" "<52y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260285" "04214" "00364947" "01695" "Unknown" "" "At the age of 56, the visual acuity of the tested eye was 20/125. The Kinetic Visual Field Extent (V-4e) was 89. There was extrafoveal fixation" "<56y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260286" "04214" "00364948" "01695" "Unknown" "" "" "<40y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260287" "04214" "00364949" "01695" "Unknown" "" "" "<24y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260288" "04214" "00364950" "01695" "Unknown" "" "STGD was based on a recorded family history compatible with autosomal recessive inheritance, presence of bilateral impairment of central vision, atrophic macular lesions (a beaten-metal appearance or large patches of atrophy) with or without the appearance of perimacular and/or peripheral white-yellow flecks, and normal to subnormal electroretinogram (ERG)." "11y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260289" "04214" "00364951" "01695" "Unknown" "" "STGD was based on a recorded family history compatible with autosomal recessive inheritance, presence of bilateral impairment of central vision, atrophic macular lesions (a beaten-metal appearance or large patches of atrophy) with or without the appearance of perimacular and/or peripheral white-yellow flecks, and normal to subnormal electroretinogram (ERG)." "14y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260290" "04214" "00364952" "01695" "Unknown" "" "STGD was based on a recorded family history compatible with autosomal recessive inheritance, presence of bilateral impairment of central vision, atrophic macular lesions (a beaten-metal appearance or large patches of atrophy) with or without the appearance of perimacular and/or peripheral white-yellow flecks, and normal to subnormal electroretinogram (ERG)." "17y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260291" "04214" "00364953" "01695" "Unknown" "" "STGD was based on a recorded family history compatible with autosomal recessive inheritance, presence of bilateral impairment of central vision, atrophic macular lesions (a beaten-metal appearance or large patches of atrophy) with or without the appearance of perimacular and/or peripheral white-yellow flecks, and normal to subnormal electroretinogram (ERG)." "13y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260292" "04214" "00364954" "01695" "Unknown" "" "At the age of 48, the BCVA was 1/0.8 logMAR (RE/LE). Fishman group (RE/LE) was: 3 (extensive atrophic-appearing RPE changes)/3 (extensive atrophic-appearing RPE changes)" "38y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260293" "04214" "00364955" "01695" "Unknown" "" "STGD was based on a recorded family history compatible with autosomal recessive inheritance, presence of bilateral impairment of central vision, atrophic macular lesions (a beaten-metal appearance or large patches of atrophy) with or without the appearance of perimacular and/or peripheral white-yellow flecks, and normal to subnormal electroretinogram (ERG)." "25y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260294" "04214" "00364956" "01695" "Unknown" "" "STGD was based on a recorded family history compatible with autosomal recessive inheritance, presence of bilateral impairment of central vision, atrophic macular lesions (a beaten-metal appearance or large patches of atrophy) with or without the appearance of perimacular and/or peripheral white-yellow flecks, and normal to subnormal electroretinogram (ERG)." "14y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260295" "04214" "00364957" "01695" "Unknown" "" "STGD was based on a recorded family history compatible with autosomal recessive inheritance, presence of bilateral impairment of central vision, atrophic macular lesions (a beaten-metal appearance or large patches of atrophy) with or without the appearance of perimacular and/or peripheral white-yellow flecks, and normal to subnormal electroretinogram (ERG)." "18y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260296" "04214" "00364958" "01695" "Unknown" "" "STGD was based on a recorded family history compatible with autosomal recessive inheritance, presence of bilateral impairment of central vision, atrophic macular lesions (a beaten-metal appearance or large patches of atrophy) with or without the appearance of perimacular and/or peripheral white-yellow flecks, and normal to subnormal electroretinogram (ERG)." "15y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260297" "04214" "00364959" "01695" "Unknown" "" "At the age of 23, The Fundus showed: numerous yellowishwhite fundus lesions throughout the posterior pole and the ERG showed: normal scotopic but reduced photopic b wave amplitudes." "11y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260298" "04214" "00364960" "01695" "Unknown" "" "STGD was based on a recorded family history compatible with autosomal recessive inheritance, presence of bilateral impairment of central vision, atrophic macular lesions (a beaten-metal appearance or large patches of atrophy) with or without the appearance of perimacular and/or peripheral white-yellow flecks, and normal to subnormal electroretinogram (ERG)." "11y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260299" "04214" "00364961" "01695" "Unknown" "" "At the age of 51, The Fundus showed: numerous yellowishwhite fundus lesions throughout the posterior pole and the ERG showed: normal full field amplitudes." "25y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260300" "04214" "00364962" "01695" "Unknown" "" "At the age of 54, the BCVA was 0.4/0 logMAR (RE/LE). Fishman group (RE/LE) was: 2 (numerous yellowish-white fundus lesions throughout the posterior pole)/2 (numerous yellowish-white fundus lesions throughout the posterior pole)" "28y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260301" "04214" "00364963" "01695" "Unknown" "" "STGD was based on a recorded family history compatible with autosomal recessive inheritance, presence of bilateral impairment of central vision, atrophic macular lesions (a beaten-metal appearance or large patches of atrophy) with or without the appearance of perimacular and/or peripheral white-yellow flecks, and normal to subnormal electroretinogram (ERG)." "13y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260302" "04214" "00364964" "01695" "Unknown" "" "STGD was based on a recorded family history compatible with autosomal recessive inheritance, presence of bilateral impairment of central vision, atrophic macular lesions (a beaten-metal appearance or large patches of atrophy) with or without the appearance of perimacular and/or peripheral white-yellow flecks, and normal to subnormal electroretinogram (ERG).; ; At the age of 25, the BCVA was 0.9/0.9 logMAR (RE/LE). Fishman group (RE/LE) was: 1 (a small atrophic-appearing foveal lesion and localized perifoveal yellowish-white flecks)/1 (a small atrophic-appearing foveal lesion and localized perifoveal yellowish-white flecks)" "21y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260303" "04214" "00364965" "01695" "Unknown" "" "STGD was based on a recorded family history compatible with autosomal recessive inheritance, presence of bilateral impairment of central vision, atrophic macular lesions (a beaten-metal appearance or large patches of atrophy) with or without the appearance of perimacular and/or peripheral white-yellow flecks, and normal to subnormal electroretinogram (ERG)." "18y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260304" "04214" "00364966" "01695" "Unknown" "" "At the age of 23, the BCVA was 0.7/0.7 logMAR (RE/LE). Fishman group (RE/LE) was: 1 (a small atrophic-appearing foveal lesion and localized perifoveal yellowish-white flecks)/1 (a small atrophic-appearing foveal lesion and localized perifoveal yellowish-white flecks)" "18y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260305" "04214" "00364967" "01695" "Unknown" "" "At the age of 46, the BCVA was 0.2/0 logMAR (RE/LE). Fishman group (RE/LE) was: 2 (numerous yellowish-white fundus lesions throughout the posterior pole)/2 (numerous yellowish-white fundus lesions throughout the posterior pole)" "30y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260306" "04214" "00364968" "01695" "Unknown" "" "Night blindness (20y), VF constriction (23y) and loss of Visual acuity (8y). Fundus: Pale optic disc. Bone spicule pigmentation. Nystagmus." "8y" "" "loss of visual acuity" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000260307" "04214" "00364969" "01695" "Unknown" "13y" "ERG: Normal scotopic; abnormal photopic" "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260308" "04214" "00364970" "01695" "Unknown" "9y" "ERG: Normal both" "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260309" "04214" "00364971" "01695" "Unknown" "11y" "ERG: no record" "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260310" "04214" "00364972" "01695" "Unknown" "23y" "ERG: Normal both" "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260311" "04214" "00364973" "01695" "Unknown" "27y" "ERG: Normal both" "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260312" "04214" "00364974" "01695" "Unknown" "41y" "ERG: Normal both" "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260313" "04214" "00364975" "01695" "Isolated (sporadic)" "" "" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000260314" "04214" "00364976" "01695" "Familial, autosomal recessive" "" "" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000260315" "04214" "00364977" "01695" "Isolated (sporadic)" "" "" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000260316" "04214" "00364978" "01695" "Familial, autosomal recessive" "" "" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000260317" "04214" "00364979" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000260318" "04214" "00364980" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000260319" "04214" "00364981" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000260320" "04214" "00364982" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000260321" "04214" "00364983" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000260322" "04214" "00364984" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000260323" "04214" "00364985" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000260324" "04214" "00364986" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260325" "04214" "00364987" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000260326" "04214" "00364988" "01695" "Unknown" "" "" "18y" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000260327" "04214" "00364989" "01695" "Unknown" "" "" "12y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260328" "04214" "00364990" "01695" "Unknown" "" "" "20y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260329" "04214" "00364991" "01695" "Unknown" "" "" "18y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260330" "04214" "00364992" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260331" "04214" "00364993" "01695" "Unknown" "" "" "10y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260332" "04214" "00364994" "01695" "Unknown" "" "" "4y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260333" "04214" "00364995" "01695" "Unknown" "" "" "7y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260334" "04214" "00364996" "01695" "Unknown" "" "" "18y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260335" "04214" "00364997" "01695" "Unknown" "" "At the age of 51, the best-corrected visual acuity (VA) was 20/20 OD and 20/25 OS. Ophthalmoscopic examination revealed extensive RPE atrophy with foveal and peripapillary sparing in both eyes and corresponding paracentral scotomas apparent on Goldmann perimetry" "26y" "" "diagnosis STGD1" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260336" "04214" "00364998" "01695" "Unknown" "" "A daughter of patient 1 was evaluated at the age of 16 years after a subjective decrease in vision. Her VA was 20/125 OD and 20/80 OS. Fundus examination revealed a deeply pigmented fovea with numerous small pisciform flecks throughout the macula and midperiphery in both eyes. Bilateral central scotomaswere present onGoldmannperimetry.At the age of 22 years, the patient’s VA had decreased to 20/160 OU. Increased foveal atrophywas present with enlargement of the central scotomas in both eyes on Goldmann perimetry. Abnormal granular foveal hypofluorescence was present on reduced-illuminance autofluorescence imaging with hypofluorescent and hyperfluorescent flecks scattered throughout the macula and midperiphery in both eyes (Figure 2I).Widespread photoreceptor and RPE atrophy was visualizedwith OCT." "16y" "" "decrease in vision" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260337" "04214" "00364999" "01695" "Unknown" "" "The sister of patient 2 was noted to have retinal changes at the age of 12 years. She was first evaluated in our clinic at the age of 13 years and had a VA of 20/50 OD and 20/125 OS. Her fundus examination findings, which were similar to those of her sister, included increased foveal pigmentation and scattered flecks and corresponding central scotomas in both eyes on Goldmann perimetry. At the age of 17 years, the patient’s VA was 20/160 OD and 20/200 OS, with granularappearing macular lesions and enlarged scotomas. Reduced-illuminance autofluorescence imaging revealed a central region of coarse granular hypofluorescence larger than that present in patient 2. Optical coherence tomography revealed diffuse central photoreceptor and RPE loss." "12y" "" "retinal changes" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260338" "04214" "00365000" "01695" "Unknown" "" "Decreased visual acuity, reduced visual central field and myopia" "26y" "" "decreased visual acuity" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260339" "04214" "00365001" "01695" "Familial, autosomal recessive" "" "Best corrected visual acuities were found to be 20/200 bilaterally in both siblings. Elliptical bull’s eye lesions with granular hyperAF borders and fine yellow flecks (II-2, OD) were noted around the fovea on fundoscopy and AF imaging. Spectral domain OCT scans revealed a focal loss of the ellipsoid zone band within the foveal region that is consistent with the optical gap or optically empty lesion phenotype described in STGD130. Results from full-field ERG testing revealed no significantly generalized rod and cone dysfunction in the retina with the exception of mild implicit time delays in single flash cone responses in the proband and her sister (blue and red traces, respectively) when compared with the response of an age-matched healthy eye." "<28y" "" "macular disease, uncorrectable vision loss" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260340" "04214" "00365002" "01695" "Familial, autosomal recessive" "" "Best corrected visual acuities were found to be 20/200 bilaterally in both siblings. Elliptical bull’s eye lesions with granular hyperAF borders and fine yellow flecks (II-2, OD) were noted around the fovea on fundoscopy and AF imaging. Spectral domain OCT scans revealed a focal loss of the ellipsoid zone band within the foveal region that is consistent with the optical gap or optically empty lesion phenotype described in STGD130. Results from full-field ERG testing revealed no significantly generalized rod and cone dysfunction in the retina with the exception of mild implicit time delays in single flash cone responses in the proband and her sister (blue and red traces, respectively) when compared with the response of an age-matched healthy eye." "<25y" "" "macular disease, uncorrectable vision loss" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260341" "04214" "00365003" "01695" "Familial, autosomal recessive" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000260342" "04214" "00365004" "01695" "Unknown" "" "At the age of 34, quantitative fundus autofluorescence: 520" "<34y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260343" "04214" "00365005" "01695" "Unknown" "" "At the age of 14, quantitative fundus autofluorescence: 555" "<14y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260344" "04214" "00365006" "01695" "Unknown" "" "ERG not done" "<35y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260345" "04214" "00365007" "01695" "Unknown" "" "ERG: cone and rod system dysfunction" "<16y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260346" "04214" "00365008" "01695" "Unknown" "" "ERG: cone and rod system dysfunction" "<41y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260347" "04214" "00365009" "01695" "Unknown" "" "ERG not done" "<9y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260348" "04214" "00365010" "01695" "Unknown" "" "ERG: cone and rod system dysfunction" "<23y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260349" "04214" "00365011" "01695" "Unknown" "" "ERG not done" "<7y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260350" "04214" "00365012" "01695" "Unknown" "" "ERG not done" "<37y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260351" "04214" "00365013" "01695" "Unknown" "" "ERG: cone and rod system dysfunction" "<10y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260352" "04214" "00365014" "01695" "Unknown" "" "ERG: cone and rod system dysfunction" "<13y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260353" "04214" "00365015" "01695" "Unknown" "" "ERG: cone and rod system dysfunction" "<24y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260354" "04214" "00365016" "01695" "Unknown" "" "ERG not done" "<19y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260355" "04214" "00365017" "01695" "Unknown" "" "ERG: cone and rod system dysfunction" "<7y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260356" "04214" "00365018" "01695" "Unknown" "" "ERG not done" "<42y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260357" "04214" "00365019" "01695" "Unknown" "" "ERG: cone and rod system dysfunction" "<21y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260358" "04214" "00365020" "01695" "Unknown" "" "ERG: cone and rod system dysfunction" "<11y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260359" "04214" "00365021" "01695" "Unknown" "" "ERG: generalized cone system dysfunction" "<8y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260360" "04214" "00365022" "01695" "Unknown" "" "ERG not done" "<20y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260361" "04214" "00365023" "01695" "Unknown" "" "ERG: dysfunction confined to the macula" "<10y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260362" "04214" "00365024" "01695" "Unknown" "" "ERG: cone and rod system dysfunction" "<33y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260363" "04214" "00365025" "01695" "Unknown" "" "ERG: dysfunction confined to the macula" "<25y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260364" "04214" "00365026" "01695" "Unknown" "" "ERG: cone and rod system dysfunction;At the age of 47: ERG results: cone and rod system dysfunction" "13y" "" "visual problems" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260365" "04214" "00365027" "01695" "Unknown" "" "ERG: cone and rod system dysfunction" "<40y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260366" "04214" "00365028" "01695" "Unknown" "" "ERG: cone and rod system dysfunction" "<36y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260367" "04214" "00365029" "01695" "Unknown" "" "ERG: cone and rod system dysfunction" "<11y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260368" "04214" "00365030" "01695" "Unknown" "" "ERG not done" "<8y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260369" "04214" "00365031" "01695" "Unknown" "" "ERG: cone and rod system dysfunction" "<18y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260370" "04214" "00365032" "01695" "Unknown" "" "ERG not done" "<33y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260371" "04214" "00365033" "01695" "Unknown" "" "ERG not done" "<61y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260372" "04214" "00365034" "01695" "Unknown" "" "ERG: cone and rod system dysfunction" "<30y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260373" "04214" "00365035" "01695" "Unknown" "" "ERG not done" "<9y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260374" "04214" "00365036" "01695" "Unknown" "" "ERG: generalized cone system dysfunction" "<9y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260375" "04214" "00365037" "01695" "Unknown" "" "ERG: cone and rod system dysfunction" "<12y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260376" "04214" "00365038" "01695" "Unknown" "" "ERG not done" "<16y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260377" "04214" "00365039" "01695" "Unknown" "" "ERG: cone and rod system dysfunction" "<12y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260378" "04214" "00365040" "01695" "Unknown" "" "ERG not done" "<9y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260379" "04214" "00365041" "01695" "Unknown" "" "ERG not done" "<8y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260380" "04214" "00365042" "01695" "Unknown" "" "ERG not done" "<17y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260381" "04214" "00365043" "01695" "Unknown" "" "ERG: cone and rod system dysfunction" "<9y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260382" "04214" "00365044" "01695" "Unknown" "" "ERG: cone and rod system dysfunction" "<8y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260383" "04214" "00365045" "01695" "Unknown" "" "ERG not done" "<33y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260384" "04214" "00365046" "01695" "Unknown" "" "ERG not done" "<30y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260385" "04214" "00365047" "01695" "Unknown" "" "ERG: cone and rod system dysfunction" "<16y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260386" "04214" "00365048" "01695" "Unknown" "" "ERG not done" "<64y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260387" "04214" "00365049" "01695" "Unknown" "" "ERG not done" "<31y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260388" "04214" "00365050" "01695" "Unknown" "" "ERG: cone and rod system dysfunction" "<13y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260389" "04214" "00365051" "01695" "Unknown" "" "ERG: cone and rod system dysfunction" "<10y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260390" "04214" "00365052" "01695" "Unknown" "" "At the age of 36: ERG results: dysfunction confined to the macula" "<37y" "" "visual problems" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260391" "04214" "00365053" "01695" "Unknown" "" "At the age of 23: ERG results: dysfunction confined to the macula" "12y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260392" "04214" "00365054" "01695" "Unknown" "" "At the age of 26: ERG results: dysfunction confined to the macula" "15y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260393" "04214" "00365055" "01695" "Unknown" "" "ERG: dysfunction confined to the macula" "<36y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260394" "04214" "00365056" "01695" "Unknown" "" "ERG: dysfunction confined to the macula; At the age of 24: ERG results: dysfunction confined to the macula" "21y" "" "visual problems" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260395" "04214" "00365057" "01695" "Unknown" "" "ERG: dysfunction confined to the macula; At the age of 21: ERG results: dysfunction confined to the macula" "<22y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260396" "04214" "00365058" "01695" "Unknown" "" "At the age of 46: ERG results: dysfunction confined to the macula" "6y" "" "visual problems" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260397" "04214" "00365059" "01695" "Unknown" "" "ERG: dysfunction confined to the macula" "<43y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260398" "04214" "00365060" "01695" "Unknown" "" "At the age of 15: ERG results: dysfunction confined to the macula" "11y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260399" "04214" "00365061" "01695" "Unknown" "" "ERG: dysfunction confined to the macula;At the age of 41: ERG results: dysfunction confined to the macula" "<42y" "" "visual problems" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260400" "04214" "00365062" "01695" "Unknown" "" "ERG: dysfunction confined to the macula; At the age of 50: ERG results: dysfunction confined to the macula" "21y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260401" "04214" "00365063" "01695" "Unknown" "" "ERG: dysfunction confined to the macula; At the age of 23: ERG results: dysfunction confined to the macula" "18y" "" "visual problems" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260402" "04214" "00365064" "01695" "Unknown" "" "ERG: dysfunction confined to the macula" "<26y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260403" "04214" "00365065" "01695" "Unknown" "" "ERG: dysfunction confined to the macula" "<18y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260404" "04214" "00365066" "01695" "Unknown" "" "ERG: dysfunction confined to the macula" "<36y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260405" "04214" "00365067" "01695" "Unknown" "" "ERG not done" "<69y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260406" "04214" "00365068" "01695" "Unknown" "" "ERG: dysfunction confined to the macula" "<26y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260407" "04214" "00365069" "01695" "Unknown" "" "ERG: dysfunction confined to the macula" "<41y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260408" "04214" "00365070" "01695" "Unknown" "" "ERG: dysfunction confined to the macula" "<11y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260409" "04214" "00365071" "01695" "Unknown" "" "late onset STGD" ">44y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260410" "04214" "00365072" "01695" "Unknown" "" "late onset STGD" ">44y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260411" "04214" "00365073" "01695" "Unknown" "" "late onset STGD" ">44y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260412" "04214" "00365074" "01695" "Unknown" "" "late onset STGD" ">44y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260413" "04214" "00365075" "01695" "Unknown" "" "late onset STGD" ">44y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260414" "04214" "00365076" "01695" "Unknown" "" "late onset STGD" ">44y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260415" "04214" "00365077" "01695" "Unknown" "" "late onset STGD" ">44y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260416" "04214" "00365078" "01695" "Unknown" "" "late onset STGD" ">44y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260417" "04214" "00365079" "01695" "Unknown" "" "late onset STGD" ">44y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260418" "04214" "00365080" "01695" "Unknown" "" "late onset STGD" ">44y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260419" "04214" "00365081" "01695" "Unknown" "" "late onset STGD" ">44y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260420" "04214" "00365082" "01695" "Unknown" "" "late onset STGD" ">44y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260421" "04214" "00365083" "01695" "Unknown" "" "late onset STGD" ">44y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260422" "04214" "00365084" "01695" "Unknown" "" "late onset STGD" ">44y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260423" "04214" "00365085" "01695" "Unknown" "" "late onset STGD" ">44y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260424" "04214" "00365086" "01695" "Unknown" "" "late onset STGD" ">44y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260425" "04214" "00365087" "01695" "Unknown" "" "moderate or advanced STGD1 disease, visual acuity less than or equal to 35 to 50" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260426" "04214" "00365088" "01695" "Unknown" "" "moderate or advanced STGD1 disease, visual acuity less than or equal to 35 to 50" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260427" "04214" "00365089" "01695" "Unknown" "" "moderate or advanced STGD1 disease, visual acuity less than or equal to 35 to 50" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260428" "04214" "00365090" "01695" "Unknown" "" "moderate or advanced STGD1 disease, visual acuity less than or equal to 35 to 50" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260429" "04214" "00365091" "01695" "Unknown" "" "moderate or advanced STGD1 disease, visual acuity less than or equal to 35 to 50" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260430" "04214" "00365092" "01695" "Unknown" "" "moderate or advanced STGD1 disease, visual acuity less than or equal to 35 to 50" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260431" "04214" "00365093" "01695" "Unknown" "" "moderate or advanced STGD1 disease, visual acuity less than or equal to 35 to 50" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260432" "04214" "00365094" "01695" "Unknown" "" "moderate or advanced STGD1 disease, visual acuity less than or equal to 35 to 50" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260433" "04214" "00365095" "01695" "Unknown" "" "moderate or advanced STGD1 disease, visual acuity less than or equal to 35 to 50" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260434" "04214" "00365096" "01695" "Unknown" "" "moderate or advanced STGD1 disease, visual acuity less than or equal to 35 to 50" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260435" "04214" "00365097" "01695" "Unknown" "" "moderate or advanced STGD1 disease, visual acuity less than or equal to 35 to 50" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260436" "04214" "00365098" "01695" "Unknown" "" "moderate or advanced STGD1 disease, visual acuity less than or equal to 35 to 50" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260437" "04214" "00365099" "01695" "Unknown" "" "moderate or advanced STGD1 disease, visual acuity less than or equal to 35 to 50" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260438" "04214" "00365100" "01695" "Unknown" "" "moderate or advanced STGD1 disease, visual acuity less than or equal to 35 to 50" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260439" "04214" "00365101" "01695" "Unknown" "" "moderate or advanced STGD1 disease, visual acuity less than or equal to 35 to 50" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260440" "04214" "00365102" "01695" "Unknown" "" "moderate or advanced STGD1 disease, visual acuity less than or equal to 35 to 50" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260441" "04214" "00365103" "01695" "Unknown" "" "moderate or advanced STGD1 disease, visual acuity less than or equal to 35 to 50" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260442" "04214" "00365104" "01695" "Unknown" "" "moderate or advanced STGD1 disease, visual acuity less than or equal to 35 to 50" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260443" "04214" "00365105" "01695" "Unknown" "" "moderate or advanced STGD1 disease, visual acuity less than or equal to 35 to 50" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260444" "04214" "00365106" "01695" "Unknown" "" "moderate or advanced STGD1 disease, visual acuity less than or equal to 35 to 50" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260445" "04214" "00365107" "01695" "Unknown" "" "moderate or advanced STGD1 disease, visual acuity less than or equal to 35 to 50" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260446" "04214" "00365108" "01695" "Unknown" "" "moderate or advanced STGD1 disease, visual acuity less than or equal to 35 to 50" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260447" "04214" "00365109" "01695" "Unknown" "" "At the age of 9: Early-onset markedly decreased vision acuity in both eyes along with an increasing difficulty in dark adaptation and a variable loss in color vision. On fundus examination, typical presentations were observed, including some pigment mottling, beaten-bronze macular appearance, and yellow-white flecks around maculae, while few pigmented bone spicules were seen in the retinal periphery. BCVA: 0.15/0.15" "<10y" "" "decreased visual acuity" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260448" "04214" "00365110" "01695" "Unknown" "" "At the age of 44: Early-onset markedly decreased vision acuity in both eyes along with an increasing difficulty in dark adaptation and a variable loss in color vision. On fundus examination, typical presentations were observed, including some pigment mottling, beaten-bronze macular appearance, and yellow-white flecks around maculae, while few pigmented bone spicules were seen in the retinal periphery. BCVA: 0.06/0.06" "<45y" "" "decreased visual acuity" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260449" "04214" "00365111" "01695" "Unknown" "" "At the age of 49: Early-onset markedly decreased vision acuity in both eyes along with an increasing difficulty in dark adaptation and a variable loss in color vision. On fundus examination, typical presentations were observed, including some pigment mottling, beaten-bronze macular appearance, and yellow-white flecks around maculae, while few pigmented bone spicules were seen in the retinal periphery. BCVA: FC/FC" "<50y" "" "decreased visual acuity" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260450" "04214" "00365112" "01695" "Unknown" "" "At the age of 45: Early-onset markedly decreased vision acuity in both eyes along with an increasing difficulty in dark adaptation and a variable loss in color vision. On fundus examination, typical presentations were observed, including some pigment mottling, beaten-bronze macular appearance, and yellow-white flecks around maculae, while few pigmented bone spicules were seen in the retinal periphery. BCVA: FC/FC" "<46y" "" "decreased visual acuity" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260451" "04214" "00365113" "01695" "Unknown" "" "Snellen: 0.05/0.05" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260452" "04214" "00365114" "01695" "Unknown" "" "Snellen: 0.4/0.1; Central scotoma" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260453" "04214" "00365115" "01695" "Unknown" "" "Snellen: 0.08/0.1; Central scotoma" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260454" "04214" "00365116" "01695" "Unknown" "" "Snellen: 1.0/0.9; Paracentral ringscotoma" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260455" "04214" "00365117" "01695" "Unknown" "" "At the age of 42: ERG results: dysfunction confined to the macula" "37y" "" "visual problems" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260456" "04214" "00365118" "01695" "Unknown" "" "At the age of 19: ERG results: dysfunction confined to the macula" "17y" "" "visual problems" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260457" "04214" "00365119" "01695" "Unknown" "" "At the age of 40: ERG results: dysfunction confined to the macula" "39y" "" "visual problems" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260458" "04214" "00365120" "01695" "Unknown" "" "At the age of 17: ERG results: dysfunction confined to the macula" "13y" "" "visual problems" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260459" "04214" "00365121" "01695" "Unknown" "" "At the age of 24: ERG results: dysfunction confined to the macula" "<25y" "" "visual problems" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260460" "04214" "00365122" "01695" "Unknown" "" "At the age of 23: ERG results: dysfunction confined to the macula" "13y" "" "visual problems" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260461" "04214" "00365123" "01695" "Unknown" "" "At the age of 25: ERG results: dysfunction confined to the macula" "25y" "" "visual problems" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260462" "04214" "00365124" "01695" "Unknown" "" "At the age of 37: ERG results: dysfunction confined to the macula" "12y" "" "visual problems" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260463" "04214" "00365125" "01695" "Unknown" "" "At the age of 23: ERG results: dysfunction confined to the macula" "19y" "" "visual problems" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260464" "04214" "00365126" "01695" "Unknown" "" "At the age of 50: ERG results: dysfunction confined to the macula" "25y" "" "visual problems" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260465" "04214" "00365127" "01695" "Unknown" "" "At the age of 51: ERG results: dysfunction confined to the macula" "50y" "" "visual problems" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260466" "04214" "00365128" "01695" "Unknown" "" "At the age of 47: ERG results: dysfunction confined to the macula" "45y" "" "visual problems" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260467" "04214" "00365129" "01695" "Unknown" "" "At the age of 64: ERG results: dysfunction confined to the macula" "45y" "" "visual problems" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260468" "04214" "00365130" "01695" "Unknown" "" "At the age of 69: ERG results: dysfunction confined to the macula" "66y" "" "visual problems" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260469" "04214" "00365131" "01695" "Unknown" "" "At the age of 67: ERG results: dysfunction confined to the macula" "<67y" "" "visual problems" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260470" "04214" "00365132" "01695" "Unknown" "" "At the age of 30: ERG results: dysfunction confined to the macula" "18y" "" "visual problems" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260471" "04214" "00365133" "01695" "Unknown" "" "At the age of 75: ERG results: generalized cone system dysfunction" "<76y" "" "visual problems" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260472" "04214" "00365134" "01695" "Unknown" "" "At the age of 44: ERG results: cone and rod system dysfunction" "<45y" "" "visual problems" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260473" "04214" "00365135" "01695" "Unknown" "" "At the age of 47: ERG results: cone and rod system dysfunction" "<48y" "" "visual problems" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260474" "04214" "00365136" "01695" "Unknown" "" "At the age of 50: ERG results: generalized cone system dysfunction" "28y" "" "visual problems" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260475" "04214" "00365137" "01695" "Unknown" "" "At the age of 23: ERG results: dysfunction confined to the macula" "<24y" "" "visual problems" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260476" "04214" "00365138" "01695" "Unknown" "" "At the age of 13: ERG results: dysfunction confined to the macula" "13y" "" "visual problems" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260477" "04214" "00365139" "01695" "Unknown" "" "At the age of 54: ERG results: dysfunction confined to the macula" "45y" "" "visual problems" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260478" "04214" "00365140" "01695" "Unknown" "" "At the age of 37: ERG results: cone and rod system dysfunction" "16y" "" "visual problems" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260479" "04214" "00365141" "01695" "Unknown" "" "At the age of 9: ERG results: dysfunction confined to the macula" "9y" "" "visual problems" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260480" "04214" "00365142" "01695" "Unknown" "" "At the age of 22: ERG results: dysfunction confined to the macula" "20y" "" "visual problems" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260481" "04214" "00365143" "01695" "Unknown" "" "At the age of 65: ERG results: cone and rod system dysfunction" "13y" "" "visual problems" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260482" "04214" "00365144" "01695" "Unknown" "" "At the age of 46: ERG results: cone and rod system dysfunction" "<47y" "" "visual problems" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260483" "04214" "00365145" "01695" "Unknown" "" "At the age of 32: ERG results: dysfunction confined to the macula" "25y" "" "visual problems" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260484" "04214" "00365146" "01695" "Unknown" "" "At the age of 30: ERG results: dysfunction confined to the macula" "22y" "" "visual problems" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260485" "04214" "00365147" "01695" "Unknown" "" "At the age of 34: ERG results: dysfunction confined to the macula" "16y" "" "visual problems" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260486" "04214" "00365148" "01695" "Unknown" "" "At the age of 15: ERG results: dysfunction confined to the macula" "<16y" "" "visual problems" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260487" "04214" "00365149" "01695" "Unknown" "" "At the age of 37: ERG results: generalized cone system dysfunction" "<38y" "" "visual problems" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260488" "04214" "00365150" "01695" "Unknown" "" "At the age of 36: ERG results: dysfunction confined to the macula" "29y" "" "visual problems" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260489" "04214" "00365151" "01695" "Unknown" "" "At the age of 59: ERG results: cone and rod system dysfunction" "<60y" "" "visual problems" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260490" "04214" "00365152" "01695" "Unknown" "" "At the age of 25: ERG results: dysfunction confined to the macula" "13y" "" "visual problems" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260491" "04214" "00365153" "01695" "Unknown" "" "At the age of 30: ERG results: generalized cone system dysfunction" "<31y" "" "visual problems" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260492" "04214" "00365154" "01695" "Unknown" "" "At the age of 15: ERG results: generalized cone system dysfunction" "15y" "" "visual problems" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260493" "04214" "00365155" "01695" "Unknown" "" "At the age of 22: ERG results: dysfunction confined to the macula" "19y" "" "visual problems" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260494" "04214" "00365156" "01695" "Unknown" "" "At the age of 26: ERG results: cone and rod system dysfunction" "18y" "" "visual problems" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260495" "04214" "00365157" "01695" "Unknown" "" "At the age of 19: ERG results: dysfunction confined to the macula" "11y" "" "visual problems" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260496" "04214" "00365158" "01695" "Unknown" "" "At the age of 24: ERG results: dysfunction confined to the macula" "22y" "" "visual problems" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260497" "04214" "00365159" "01695" "Unknown" "" "At the age of 39: ERG results: cone and rod system dysfunction" "10y" "" "visual problems" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260498" "04214" "00365160" "01695" "Unknown" "" "At the age of 29: ERG results: cone and rod system dysfunction" "18y" "" "visual problems" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260499" "04214" "00365161" "01695" "Unknown" "" "At the age of 38: ERG results: cone and rod system dysfunction" "24y" "" "visual problems" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260500" "04214" "00365162" "01695" "Unknown" "" "At the age of 38: ERG results: dysfunction confined to the macula" "27y" "" "visual problems" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260501" "04214" "00365163" "01695" "Unknown" "" "At the age of 35, the visual acuity was 1/16 in both eyes. She was legally blind and suffered from photophobia. Fundus photography showed: Macular atrophy with pigmentations and peripheral RPE atrophy." "12y" "" "Night blindness was the first symptom, followed by intense photophobia" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260502" "04214" "00365164" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260503" "04214" "00365165" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260504" "04214" "00365166" "01695" "Unknown" "" "" "9y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260505" "04214" "00365167" "01695" "Unknown" "" "" "4y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260506" "04214" "00365168" "01695" "Unknown" "" "" "21y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260507" "04214" "00365169" "01695" "Unknown" "" "" "7y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260508" "04214" "00365170" "01695" "Unknown" "" "" "14y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260509" "04214" "00365171" "01695" "Unknown" "" "" "10y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260510" "04214" "00365172" "01695" "Unknown" "" "" "9y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260511" "04214" "00365173" "01695" "Unknown" "" "" "9y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260512" "04214" "00365174" "01695" "Unknown" "" "" "15y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260513" "04214" "00365175" "01695" "Unknown" "" "" "8y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260514" "04214" "00365176" "01695" "Unknown" "" "" "7y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260515" "04214" "00365177" "01695" "Unknown" "" "" "12y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260516" "04214" "00365178" "01695" "Unknown" "" "" "42y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260517" "04214" "00365179" "01695" "Unknown" "" "" "4y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260518" "04214" "00365180" "01695" "Unknown" "" "" "5y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260519" "04214" "00365181" "01695" "Unknown" "" "" "4y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260520" "04214" "00365182" "01695" "Unknown" "" "" "9y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260521" "04214" "00365183" "01695" "Unknown" "" "" "15y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260522" "04214" "00365184" "01695" "Unknown" "" "" "10y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260523" "04214" "00365185" "01695" "Unknown" "" "" "21y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260524" "04214" "00365186" "01695" "Unknown" "" "" "9y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260525" "04214" "00365187" "01695" "Unknown" "" "" "7y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260526" "04214" "00365188" "01695" "Unknown" "" "" "10y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260527" "04214" "00365189" "01695" "Unknown" "" "" "9y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260528" "04214" "00365190" "01695" "Unknown" "" "" "5y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260529" "04214" "00365191" "01695" "Unknown" "" "" "14y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260530" "04214" "00365192" "01695" "Unknown" "" "" "6y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260531" "04214" "00365193" "01695" "Unknown" "" "" "8y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260532" "04214" "00365194" "01695" "Unknown" "" "" "10y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260533" "04214" "00365195" "01695" "Unknown" "" "" "13y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260534" "04214" "00365196" "01695" "Unknown" "" "" "9y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260535" "04214" "00365197" "01695" "Unknown" "" "" "15y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260536" "04214" "00365198" "01695" "Unknown" "" "" "16y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260537" "04214" "00365199" "01695" "Unknown" "" "STGD, RPE atrophy" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260538" "04214" "00365200" "01695" "Unknown" "" "STGD, RPE atrophy" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260539" "04214" "00365201" "01695" "Unknown" "" "STGD, RPE atrophy" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260540" "04214" "00365202" "01695" "Unknown" "" "STGD, RPE atrophy" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260541" "04214" "00365203" "01695" "Unknown" "" "STGD, RPE atrophy" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260542" "04214" "00365204" "01695" "Unknown" "" "STGD, RPE atrophy" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260543" "04214" "00365205" "01695" "Unknown" "" "STGD, RPE atrophy" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260544" "04214" "00365206" "01695" "Unknown" "" "STGD, RPE atrophy" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260545" "04214" "00365207" "01695" "Unknown" "" "STGD, RPE atrophy" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260546" "04214" "00365208" "01695" "Unknown" "" "STGD, RPE atrophy" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260547" "04214" "00365209" "01695" "Unknown" "" "STGD, RPE atrophy" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260548" "04214" "00365210" "01695" "Unknown" "" "STGD, RPE atrophy" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260549" "04214" "00365211" "01695" "Unknown" "" "STGD, RPE atrophy" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260550" "04214" "00365212" "01695" "Unknown" "" "STGD, RPE atrophy" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260551" "04214" "00365213" "01695" "Unknown" "" "STGD, RPE atrophy" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260552" "04214" "00365214" "01695" "Unknown" "" "STGD, RPE atrophy" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260553" "04214" "00365215" "01695" "Unknown" "" "STGD, RPE atrophy" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260554" "04214" "00365216" "01695" "Unknown" "" "STGD, RPE atrophy" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260555" "04214" "00365217" "01695" "Unknown" "" "STGD, RPE atrophy" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260556" "04214" "00365218" "01695" "Unknown" "" "STGD, RPE atrophy" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260557" "04214" "00365219" "01695" "Unknown" "" "STGD, RPE atrophy" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260558" "04214" "00365220" "01695" "Unknown" "" "STGD, RPE atrophy" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260559" "04214" "00365221" "01695" "Unknown" "" "STGD, RPE atrophy" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260560" "04214" "00365222" "01695" "Unknown" "" "STGD, RPE atrophy" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260561" "04214" "00365223" "01695" "Unknown" "" "STGD, RPE atrophy" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260562" "04214" "00365224" "01695" "Unknown" "" "STGD, RPE atrophy" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260563" "04214" "00365225" "01695" "Unknown" "" "STGD, RPE atrophy" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260564" "04214" "00365226" "01695" "Unknown" "" "STGD, RPE atrophy" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260565" "04214" "00365227" "01695" "Unknown" "" "STGD, RPE atrophy" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260566" "04214" "00365228" "01695" "Unknown" "" "STGD, RPE atrophy" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260567" "04214" "00365229" "01695" "Unknown" "" "STGD, RPE atrophy" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260568" "04214" "00365230" "01695" "Unknown" "" "STGD, RPE atrophy" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260569" "04214" "00365231" "01695" "Unknown" "" "STGD, RPE atrophy" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260570" "04214" "00365232" "01695" "Unknown" "" "STGD, RPE atrophy" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260571" "04214" "00365233" "01695" "Unknown" "" "STGD, RPE atrophy" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260572" "04214" "00365234" "01695" "Unknown" "" "STGD, RPE atrophy" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260573" "04214" "00365235" "01695" "Unknown" "" "STGD, RPE atrophy" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260574" "04214" "00365236" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260575" "04214" "00365237" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000260576" "04214" "00365238" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000260577" "04214" "00365239" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000260578" "04214" "00365240" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000260579" "04214" "00365241" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000260580" "04214" "00365242" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000260581" "04214" "00365243" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000260582" "04214" "00365244" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000260583" "04214" "00365245" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000260584" "04214" "00365246" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000260585" "04214" "00365247" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000260586" "04214" "00365248" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000260587" "04214" "00365249" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000260588" "04214" "00365250" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000260589" "04214" "00365251" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000260590" "04214" "00365252" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000260591" "04214" "00365253" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000260592" "04214" "00365254" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000260593" "04214" "00365255" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000260594" "04214" "00365256" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000260595" "04214" "00365257" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000260596" "04214" "00365258" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000260597" "04214" "00365259" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000260598" "04214" "00365260" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000260599" "04214" "00365261" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000260600" "04214" "00365262" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000260601" "04214" "00365263" "01695" "Familial, autosomal recessive" "" "Visual acuity was 20/400 in both eyes. Fundus: macular atrophy, yellow flecks on RPE" "13y" "" "progressive vision loss" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260602" "04214" "00365264" "01695" "Familial, autosomal recessive" "" "Visual acuity was 20/400 in both eyes. Fundus: macular atrophy, yellow flecks on RPE" "14y" "" "progressive vision loss" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260603" "04214" "00365265" "01695" "Familial, autosomal recessive" "" "Visual acuity was 20/500 in both eyes. Fundus: macular atrophy, yellow flecks on RPE" "7y" "" "progressive vision loss" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260604" "04214" "00365266" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260605" "04214" "00365267" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260606" "04214" "00365268" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260607" "04214" "00365269" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260608" "04214" "00365270" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260609" "04214" "00365271" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260610" "04214" "00365272" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260611" "04214" "00365273" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260612" "04214" "00365274" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260613" "04214" "00365275" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260614" "04214" "00365276" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260615" "04214" "00365277" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260616" "04214" "00365278" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260617" "04214" "00365279" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260618" "04214" "00365280" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260619" "04214" "00365281" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260620" "04214" "00365282" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260621" "04214" "00365283" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260622" "04214" "00365284" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260623" "04214" "00365285" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260624" "04214" "00365286" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260625" "04214" "00365287" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260626" "04214" "00365288" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260627" "04214" "00365289" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260628" "04214" "00365290" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260629" "04214" "00365291" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260630" "04214" "00365292" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260631" "04214" "00365293" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260632" "04214" "00365294" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260633" "04214" "00365295" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260634" "04214" "00365296" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260635" "04214" "00365297" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260636" "04214" "00365298" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260637" "04214" "00365299" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260638" "04214" "00365300" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260639" "04214" "00365301" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260640" "04214" "00365302" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260641" "04214" "00365303" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260642" "04214" "00365304" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260643" "04214" "00365305" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260644" "04214" "00365306" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260645" "04214" "00365307" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260646" "04214" "00365308" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260647" "04214" "00365309" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260648" "04214" "00365310" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260649" "04214" "00365311" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260650" "04214" "00365312" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260651" "04214" "00365313" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260652" "04214" "00365314" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260653" "04214" "00365315" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260654" "04214" "00365316" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260655" "04214" "00365317" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260656" "04214" "00365318" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260657" "04214" "00365319" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260658" "04214" "00365320" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260659" "04214" "00365321" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260660" "04214" "00365322" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260661" "04214" "00365323" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260662" "04214" "00365324" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260663" "04214" "00365325" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260664" "04214" "00365326" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260665" "04214" "00365327" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260666" "04214" "00365328" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260667" "04214" "00365329" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260668" "04214" "00365330" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260669" "04214" "00365331" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260670" "04214" "00365332" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260671" "04214" "00365333" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260672" "04214" "00365334" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260673" "04214" "00365335" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260674" "04214" "00365336" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260675" "04214" "00365337" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260676" "04214" "00365338" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260677" "04214" "00365339" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260678" "04214" "00365340" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260679" "04214" "00365341" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260680" "04214" "00365342" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260681" "04214" "00365343" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260682" "04214" "00365344" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260683" "04214" "00365345" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260684" "04214" "00365346" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260685" "04214" "00365347" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260686" "04214" "00365348" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260687" "04214" "00365349" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260688" "04214" "00365350" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260689" "04214" "00365351" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260690" "04214" "00365352" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260691" "04214" "00365353" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260692" "04214" "00365354" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260693" "04214" "00365355" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260694" "04214" "00365356" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260695" "04214" "00365357" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260696" "04214" "00365358" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260697" "04214" "00365359" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260698" "04214" "00365360" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260699" "04214" "00365361" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260700" "04214" "00365362" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260701" "04214" "00365363" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260702" "04214" "00365364" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260703" "04214" "00365365" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260704" "04214" "00365366" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260705" "04214" "00365367" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260706" "04214" "00365368" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260707" "04214" "00365369" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260708" "04214" "00365370" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260709" "04214" "00365371" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260710" "04214" "00365372" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260711" "04214" "00365373" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260712" "04214" "00365374" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260713" "04214" "00365375" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260714" "04214" "00365376" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260715" "04214" "00365377" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260716" "04214" "00365378" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260717" "04214" "00365379" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260718" "04214" "00365380" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260719" "04214" "00365381" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260720" "04214" "00365382" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260721" "04214" "00365383" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260722" "04214" "00365384" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260723" "04214" "00365385" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260724" "04214" "00365386" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260725" "04214" "00365387" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260726" "04214" "00365388" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260727" "04214" "00365389" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260728" "04214" "00365390" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260729" "04214" "00365391" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260730" "04214" "00365392" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260731" "04214" "00365393" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260732" "04214" "00365394" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260733" "04214" "00365395" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260734" "04214" "00365396" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260735" "04214" "00365397" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260736" "04214" "00365398" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260737" "04214" "00365399" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260738" "04214" "00365400" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260739" "04214" "00365401" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260740" "04214" "00365402" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260741" "04214" "00365403" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260742" "04214" "00365404" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260743" "04214" "00365405" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260744" "04214" "00365406" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260745" "04214" "00365407" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260746" "04214" "00365408" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260747" "04214" "00365409" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260748" "04214" "00365410" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260749" "04214" "00365411" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260750" "04214" "00365412" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260751" "04214" "00365413" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260752" "04214" "00365414" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260753" "04214" "00365415" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260754" "04214" "00365416" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260755" "04214" "00365417" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260756" "04214" "00365418" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260757" "04214" "00365419" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260758" "04214" "00365420" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260759" "04214" "00365421" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260760" "04214" "00365422" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260761" "04214" "00365423" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260762" "04214" "00365424" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260763" "04214" "00365425" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260764" "04214" "00365426" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260765" "04214" "00365427" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260766" "04214" "00365428" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260767" "04214" "00365429" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260768" "04214" "00365430" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260769" "04214" "00365431" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260770" "04214" "00365432" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260771" "04214" "00365433" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260772" "04214" "00365434" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260773" "04214" "00365435" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260774" "04214" "00365436" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260775" "04214" "00365437" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260776" "04214" "00365438" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260777" "04214" "00365439" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260778" "04214" "00365440" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260779" "04214" "00365441" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260780" "04214" "00365442" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260781" "04214" "00365443" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260782" "04214" "00365444" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260783" "04214" "00365445" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260784" "04214" "00365446" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260785" "04214" "00365447" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260786" "04214" "00365448" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260787" "04214" "00365449" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260788" "04214" "00365450" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260789" "04214" "00365451" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260790" "04214" "00365452" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260791" "04214" "00365453" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260792" "04214" "00365454" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260793" "04214" "00365455" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260794" "04214" "00365456" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260795" "04214" "00365457" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260796" "04214" "00365458" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260797" "04214" "00365459" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260798" "04214" "00365460" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260799" "04214" "00365461" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260800" "04214" "00365462" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260801" "04214" "00365463" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260802" "04214" "00365464" "01695" "Unknown" "" "At the age of 20, best-corrected visual acuity was 1.6/10 in the right eye and 1.2/10 in the left eye. While the anterior segment and the intraocular pressure were within the normal limits, fundus examination revealed atrophic macular dystrophy and flecks with a few circumscribed fibrotic changes at mid-periphery." "12y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260803" "04214" "00365465" "01695" "Familial, autosomal recessive" "" "Fundus examination at age 34 revealed mild nonproliferative diabetic retinopathy without clinically significant macular edema and focal areas of RPE atrophy consistent with focal laser treatment in the left eye only. Goldmann visual fields revealed constriction to the I4e isopter in each eye with full peripheral fields to the V4e isopter. Patient III:II also developed abnormal night vision and dark adaptation beginning in childhood. At age 19, white spots were reported in the fundus. In both siblings, RPE pigmentation was irregular in the macula extending along the temporal arcades and anteriorly but was preserved in the central 10 degrees. No flecks or white spots were observed on examination at ages 30 and 34, respectively. SDOCT scans through the central 20 degrees of the macula showed atrophy of the outer retinal layers near the optic nerve and loss of the outer retinal layers beginning ~5–10 degrees from the fovea." "2y" "" "night vision loss" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000260804" "04214" "00365466" "01695" "Familial, autosomal recessive" "" "RPE pigmentation was irregular in the macula extending along the temporal arcades and anteriorly but was preserved in the central 10 degrees." "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000260805" "04214" "00365467" "01695" "Familial, autosomal recessive" "" "Three offspring of nonconsanguineous parents developed visual abnormalities within the first decade of life. All three children had visual acuities of 20/100 OU (oculus uterque/both eyes) or worse when examined at the ages of 11, 9, and 7 yr, respectively. Fundus Examination revealed bull’s eye maculopathy and pigment clumps surrounded by atrophy in the equatorial region OU with a flat, darkly pigmented choroidal lesion in the temporal macula OD (oculus dextrus/right eye) of III:I, while III:II exhibited foveal atrophy with subretinal hypopigmented lesions anterior to the arcades and optic disk pallor; the subretinal lesions and macular atrophy were hyperfluorescent, but there was a dark choroid around the optic nerve on fluorescein angiography. Patient III:III exhibited foveal atrophy OU and faint pigment clumps surrounded by RPE atrophy anterior to the arcades, with a superotemporal flat pigmented choroidal lesion OS (oculus sinister/left eye) similar to that seen in III:I. Visual field testing revealed central scotomata OU in III:I, but III:II showed a peripheral island OD and constriction to the central 35 degrees OS; visual field testing was unreliable in III:III. Electroretinography demonstrated a cone-rod pattern of dysfunction in all three patients." "<11y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260806" "04214" "00365468" "01695" "Familial, autosomal recessive" "" "Three offspring of nonconsanguineous parents developed visual abnormalities within the first decade of life. All three children had visual acuities of 20/100 OU (oculus uterque/both eyes) or worse when examined at the ages of 11, 9, and 7 yr, respectively. Fundus Examination revealed bull’s eye maculopathy and pigment clumps surrounded by atrophy in the equatorial region OU with a flat, darkly pigmented choroidal lesion in the temporal macula OD (oculus dextrus/right eye) of III:I, while III:II exhibited foveal atrophy with subretinal hypopigmented lesions anterior to the arcades and optic disk pallor; the subretinal lesions and macular atrophy were hyperfluorescent, but there was a dark choroid around the optic nerve on fluorescein angiography. Patient III:III exhibited foveal atrophy OU and faint pigment clumps surrounded by RPE atrophy anterior to the arcades, with a superotemporal flat pigmented choroidal lesion OS (oculus sinister/left eye) similar to that seen in III:I. Visual field testing revealed central scotomata OU in III:I, but III:II showed a peripheral island OD and constriction to the central 35 degrees OS; visual field testing was unreliable in III:III. Electroretinography demonstrated a cone-rod pattern of dysfunction in all three patients." "<9y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260807" "04214" "00365469" "01695" "Familial, autosomal recessive" "" "Three offspring of nonconsanguineous parents developed visual abnormalities within the first decade of life. All three children had visual acuities of 20/100 OU (oculus uterque/both eyes) or worse when examined at the ages of 11, 9, and 7 yr, respectively. Fundus Examination revealed bull’s eye maculopathy and pigment clumps surrounded by atrophy in the equatorial region OU with a flat, darkly pigmented choroidal lesion in the temporal macula OD (oculus dextrus/right eye) of III:I, while III:II exhibited foveal atrophy with subretinal hypopigmented lesions anterior to the arcades and optic disk pallor; the subretinal lesions and macular atrophy were hyperfluorescent, but there was a dark choroid around the optic nerve on fluorescein angiography. Patient III:III exhibited foveal atrophy OU and faint pigment clumps surrounded by RPE atrophy anterior to the arcades, with a superotemporal flat pigmented choroidal lesion OS (oculus sinister/left eye) similar to that seen in III:I. Visual field testing revealed central scotomata OU in III:I, but III:II showed a peripheral island OD and constriction to the central 35 degrees OS; visual field testing was unreliable in III:III. Electroretinography demonstrated a cone-rod pattern of dysfunction in all three patients." "<7y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260808" "04214" "00365470" "01695" "Unknown" "" "early onset CRD , prominent optic disk" "<10y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260809" "04214" "00365471" "01695" "Unknown" "" "At the age of 46: Central scotoma, night blindness, discromatopsy. BCVA: Light perception. Fundus: Pigment deposits in macula" "8y" "" "Decreased visual acuity" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260810" "04214" "00365472" "01695" "Unknown" "" "At the age of 24, Night blindness, decreased visual acuity, reduced visual field" "2y" "" "Hemeralopy" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260811" "04214" "00365473" "01695" "Unknown" "" "RP" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260812" "04214" "00365474" "01695" "Unknown" "" "RP with early macular involvement" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260813" "04214" "00365475" "01695" "Unknown" "" "RP with early macular involvement" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260814" "04214" "00365476" "01695" "Unknown" "" "RP" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260815" "04214" "00365477" "01695" "Unknown" "" "RP" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260816" "04214" "00365478" "01695" "Unknown" "" "At the age of 23, the BCVA was : 20/60 OD and 20/60 OS. Ultrawidefield fundus autofluorescence type was: Central atrophy with or without flecks confined to posterior pole—No findings outside 55° field of view" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260817" "04214" "00365479" "01695" "Unknown" "" "At the age of 39, the BCVA was : 20/500 OD and 20/320 OS. Ultrawidefield fundus autofluorescence type was: Central atrophy with or without flecks confined to posterior pole—No findings outside 55° field of view" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260818" "04214" "00365480" "01695" "Unknown" "" "At the age of 23, the BCVA was : 20/70 OD and 20/80 OS. Ultrawidefield fundus autofluorescence type was: Central atrophy with or without flecks confined to posterior pole—No findings outside 55° field of view" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260819" "04214" "00365481" "01695" "Unknown" "" "At the age of 42, the BCVA was : 20/250 OD and 20/250 OS. Ultrawidefield fundus autofluorescence type was: Central atrophy with or without flecks confined to posterior pole—No findings outside 55° field of view" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260820" "04214" "00365482" "01695" "Unknown" "" "At the age of 28, the BCVA was : 20/250 OD and 20/200 OS. Ultrawidefield fundus autofluorescence type was: Central atrophy with or without flecks confined to posterior pole—No findings outside 55° field of view" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260821" "04214" "00365483" "01695" "Unknown" "" "At the age of 54, the BCVA was : 20/40 OD and 20/100 OS. Ultrawidefield fundus autofluorescence type was: Central atrophy with or without flecks confined to posterior pole—No findings outside 55° field of view" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260822" "04214" "00365484" "01695" "Unknown" "" "At the age of 53, the BCVA was : CF 2FT OD and c.4771G.A OS. Ultrawidefield fundus autofluorescence type was: Central atrophy with or without flecks confined to posterior pole—No findings outside 55° field of view" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260823" "04214" "00365485" "01695" "Unknown" "" "At the age of 50, the BCVA was : 20/200 OD and 20/200 OS. Ultrawidefield fundus autofluorescence type was: Central atrophy with flecks only extending outside posterior pole" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260824" "04214" "00365486" "01695" "Unknown" "" "At the age of 62, the BCVA was : 20/125 OD and 20/250 OS. Ultrawidefield fundus autofluorescence type was: Central atrophy with flecks only extending outside posterior pole" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260825" "04214" "00365487" "01695" "Unknown" "" "At the age of 53, the BCVA was : 20/160 OD and 20/100 OS. Ultrawidefield fundus autofluorescence type was: Central atrophy with flecks only extending outside posterior pole" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260826" "04214" "00365488" "01695" "Unknown" "" "At the age of 45, the BCVA was : CF 8FT OD and 20/200 OS. Ultrawidefield fundus autofluorescence type was: Central atrophy with flecks only extending outside posterior pole" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260827" "04214" "00365489" "01695" "Unknown" "" "At the age of 73, the BCVA was : 20/800 OD and 20/800 OS. Ultrawidefield fundus autofluorescence type was: Central atrophy with flecks only extending outside posterior pole" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260828" "04214" "00365490" "01695" "Unknown" "" "At the age of 37, the BCVA was : 20/300 OD and CF 2FT OS. Ultrawidefield fundus autofluorescence type was: Central atrophy with flecks only extending outside posterior pole" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260829" "04214" "00365491" "01695" "Unknown" "" "At the age of 22, the BCVA was : 20/125 OD and 20/100 OS. Ultrawidefield fundus autofluorescence type was: Central atrophy with flecks only extending outside posterior pole" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260830" "04214" "00365492" "01695" "Unknown" "" "At the age of 59, the BCVA was : CF 3FT OD and CF 3FT OS. Ultrawidefield fundus autofluorescence type was: Central atrophy and significant extramacular flecks and atrophy extending outside posterior pole. subtype: mild/moderate atrophy (most often in punctate pattern) extending to or beyond equator" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260831" "04214" "00365493" "01695" "Unknown" "" "At the age of 32, the BCVA was : 20/150 OD and 20/100 OS. Ultrawidefield fundus autofluorescence type was: Central atrophy and significant extramacular flecks and atrophy extending outside posterior pole. subtype: mild/moderate atrophy (most often in punctate pattern) extending to or beyond equator" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260832" "04214" "00365494" "01695" "Unknown" "" "At the age of 36, the BCVA was : 20/150 OD and 20/250 OS. Ultrawidefield fundus autofluorescence type was: Central atrophy and significant extramacular flecks and atrophy extending outside posterior pole. subtype: mild/moderate atrophy (most often in punctate pattern) extending to or beyond equator" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260833" "04214" "00365495" "01695" "Unknown" "" "At the age of 58, the BCVA was : 20/250 OD and 20/250 OS. Ultrawidefield fundus autofluorescence type was: Central atrophy and significant extramacular flecks and atrophy extending outside posterior pole. subtype: mild/moderate atrophy (most often in punctate pattern) extending to or beyond equator" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260834" "04214" "00365496" "01695" "Unknown" "" "At the age of 46, the BCVA was : HM OD and HM OS. Ultrawidefield fundus autofluorescence type was: Central atrophy and significant extramacular flecks and atrophy extending outside posterior pole. subtype: mild/moderate atrophy (most often in punctate pattern) extending to or beyond equatorsevere atrophy extending from macula to equator" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260835" "04214" "00365497" "01695" "Unknown" "" "At the age of 25, the BCVA was : HM OD and HM OS. Ultrawidefield fundus autofluorescence type was: Central atrophy and significant extramacular flecks and atrophy extending outside posterior pole. subtype: mild/moderate atrophy (most often in punctate pattern) extending to or beyond equatorsevere atrophy extending from macula to equator" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260836" "04214" "00365498" "01695" "Unknown" "" "At the age of 65, the BCVA was : CF 2FT OD and CF 2FT OS. Ultrawidefield fundus autofluorescence type was: Central atrophy and significant extramacular flecks and atrophy extending outside posterior pole. subtype: severe atrophy extending from macula to equator" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260837" "04214" "00365499" "01695" "Unknown" "" "At the age of 51, the BCVA was : 20/40 OD and 20/60 OS. Ultrawidefield fundus autofluorescence type was: Central atrophy and significant extramacular flecks and atrophy extending outside posterior pole. subtype: severe atrophy extending from macula to equator" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260838" "04214" "00365500" "01695" "Unknown" "" "At the age of 53, the BCVA was : HM OD and HM OS. Ultrawidefield fundus autofluorescence type was: Central atrophy and significant extramacular flecks and atrophy extending outside posterior pole. subtype: severe atrophy extending from macula to equator" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260839" "04214" "00365501" "01695" "Unknown" "" "At the age of 68, the BCVA was : 20/400 OD and 20/300 OS. Ultrawidefield fundus autofluorescence type was: Central atrophy and significant extramacular flecks and atrophy extending outside posterior pole. subtype: severe atrophy extending from macula to equator" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260840" "04214" "00365502" "01695" "Unknown" "" "At the age of 54, the BCVA was : HM OD and CF OS. Ultrawidefield fundus autofluorescence type was: Central atrophy and significant extramacular flecks and atrophy extending outside posterior pole. subtype: severe atrophy extending from macula to equator" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260841" "04214" "00365503" "01695" "Unknown" "" "At the age of 28, the BCVA was : CF 1FT OD and CF 1FT OS. Ultrawidefield fundus autofluorescence type was: Central atrophy and significant extramacular flecks and atrophy extending outside posterior pole. subtype: severe atrophy extending from macula to equator" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260842" "04214" "00365504" "01695" "Unknown" "" "At the age of 25, the BCVA was : 20/400 OD and 20/500 OS. Ultrawidefield fundus autofluorescence type was: Central atrophy and significant extramacular flecks and atrophy extending outside posterior pole. subtype: extensive, severe atrophy extending anterior to equator" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260843" "04214" "00365505" "01695" "Unknown" "" "At the age of 57, the BCVA was : CF 2FT OD and CF FACE OS. Ultrawidefield fundus autofluorescence type was: Central atrophy and significant extramacular flecks and atrophy extending outside posterior pole. subtype: extensive, severe atrophy extending anterior to equator" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260844" "04214" "00365506" "01695" "Unknown" "" "At the age of 63, the BCVA was : CF 1FT OD and 20/100 OS. Ultrawidefield fundus autofluorescence type was: Central atrophy and significant extramacular flecks and atrophy extending outside posterior pole. subtype: extensive, severe atrophy extending anterior to equator" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260845" "04214" "00365507" "01695" "Unknown" "" "At the age of 42, the BCVA was 20/40 (OD) and 20/40 (OS)." "30y-40y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260846" "04214" "00365508" "01695" "Unknown" "" "At the age of 45, the BCVA was 20/25 (OD) and 20/20 (OS)." "40y-50y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260847" "04214" "00365509" "01695" "Unknown" "" "At the age of 44, the BCVA was 20/100 (OD) and 20/100 (OS)." "10y-20y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260848" "04214" "00365510" "01695" "Unknown" "" "At the age of 23, the BCVA was 20/400 (OD) and 20/400 (OS)." "10y-20y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260849" "04214" "00365511" "01695" "Unknown" "" "At the age of 47, the BCVA was 20/40 (OD) and 20/70 (OS)." "10y-20y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260850" "04214" "00365512" "01695" "Unknown" "" "At the age of 18, the BCVA was 20/100 (OD) and 20/150 (OS)." "10y-20y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260851" "04214" "00365513" "01695" "Unknown" "" "At the age of 34, the BCVA was HM (OD) and HM (OS)." "10y-20y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260852" "04214" "00365514" "01695" "Unknown" "" "At the age of 39, the BCVA was 20/200 (OD) and 20/200 (OS)." "<10y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260853" "04214" "00365515" "01695" "Unknown" "" "At the age of 56, the BCVA was CF (OD) and CF (OS)." "10y-20y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260854" "04214" "00365516" "01695" "Unknown" "" "At the age of 33, the BCVA was CF (OD) and 20/300 (OS)." "<10y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260855" "04214" "00365517" "01695" "Unknown" "" "At the age of 39, the BCVA was 20/80 (OD) and 20/20 (OS)." "30y-40y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260856" "04214" "00365518" "01695" "Unknown" "" "At the age of 41, the BCVA was 20/40 (OD) and 20/40 (OS)." "30y-40y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260857" "04214" "00365519" "01695" "Unknown" "" "At the age of 22, the BCVA was 20/150 (OD) and 20/150 (OS)." "10y-20y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260858" "04214" "00365520" "01695" "Unknown" "" "At the age of 33, the BCVA was 20/200 (OD) and 20/200 (OS)." "20y-30y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260859" "04214" "00365521" "01695" "Unknown" "" "At the age of 22, the BCVA was 20/100 (OD) and 20/80 (OS)." "20y-30y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260860" "04214" "00365522" "01695" "Unknown" "" "At the age of 27, the BCVA was 20/60 (OD) and 20/70 (OS)." "20y-30y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260861" "04214" "00365523" "01695" "Unknown" "" "At the age of 31, the BCVA was 20/50 (OD) and 20/50 (OS)." "20y-30y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260862" "04214" "00365524" "01695" "Unknown" "" "At the age of 32, the BCVA was 20/60 (OD) and 20/60 (OS)." "20y-30y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260863" "04214" "00365525" "01695" "Unknown" "" "At the age of 62, the BCVA was 20/150 (OD) and 20/400 (OS)." "10y-20y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260864" "04214" "00365526" "01695" "Unknown" "" "At the age of 23, the BCVA was 20/40 (OD) and 20/30 (OS)." "20y-30y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260865" "04214" "00365527" "01695" "Unknown" "" "At the age of 50, the BCVA was 20/80 (OD) and 20/100 (OS)." "40y-50y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260866" "04214" "00365528" "01695" "Unknown" "" "At the age of 57, the BCVA was 20/25 (OD) and 20/25 (OS)." "40y-50y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260867" "04214" "00365529" "01695" "Unknown" "" "At the age of 9, the BCVA was N/A (OD) and N/A (OS)." "<10y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260868" "04214" "00365530" "01695" "Unknown" "" "At the age of 22, the BCVA was N/A (OD) and N/A (OS)." "10y-20y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260869" "04214" "00365531" "01695" "Unknown" "" "At the age of 32, the BCVA was N/A (OD) and N/A (OS)." "10y-20y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260870" "04214" "00365532" "01695" "Unknown" "" "At the age of 25, the BCVA was 20/100 (OD) and 20/100 (OS)." "10y-20y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260871" "04214" "00365533" "01695" "Unknown" "" "At the age of 51, the BCVA was 20/30+2 (OD) and 20/30 (OS)." "50y-60y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260872" "04214" "00365534" "01695" "Unknown" "" "At the age of 31, the BCVA was 20/200+1 (OD) and 20/200+1 (OS)." "10y-20y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260873" "04214" "00365535" "01695" "Unknown" "" "At the age of 32, the BCVA was 20/50+1 (OD) and 20/400 (OS)." "10y-20y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260874" "04214" "00365536" "01695" "Unknown" "" "At the age of 46, the BCVA was 20/200 (OD) and 20/200 (OS)." "30y-40y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260875" "04214" "00365537" "01695" "Unknown" "" "At the age of 31, the BCVA was 10/120+2 (OD) and 10/120+2 (OS)." "10y-20y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260876" "04214" "00365538" "01695" "Unknown" "" "At the age of 16, the BCVA was 10/100-3 (OD) and 10/100-3 (OS)." "<10y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260877" "04214" "00365539" "01695" "Unknown" "" "At the age of 25, the BCVA was 10/160 (OD) and 10/160 (OS)." "<10y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260878" "04214" "00365540" "01695" "Unknown" "" "At the age of 46, the BCVA was 20/150 (OD) and 20/125 (OS)." "20y-30y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260879" "04214" "00365541" "01695" "Unknown" "" "At the age of 65, the BCVA was 20/200 (OD) and 20/200 (OS)." "40y-50y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260880" "04214" "00365542" "01695" "Unknown" "" "At the age of 19, the BCVA was 10/120+2 (OD) and 10/80-3 (OS)." "10y-20y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260881" "04214" "00365543" "01695" "Unknown" "" "At the age of 13, the BCVA was 10/63-2 (OD) and 10/63-2 (OS)." "<10y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260882" "04214" "00365544" "01695" "Unknown" "" "" "9y" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000260883" "04214" "00365545" "01695" "Unknown" "" "" "15y" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000260884" "04214" "00365546" "01695" "Unknown" "" "Retinal flecks" "13y" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000260885" "04214" "00365547" "01695" "Unknown" "" "Retinal flecks" "13y" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000260886" "04214" "00365548" "01695" "Unknown" "" "Retinal flecks" "13y" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000260887" "04214" "00365549" "01695" "Unknown" "" "Retinal flecks" "11y" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000260888" "04214" "00365550" "01695" "Unknown" "" "Macular dystrophy" "15y" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000260889" "04214" "00365551" "01695" "Unknown" "" "" "8y" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000260890" "04214" "00365552" "01695" "Unknown" "" "" "7y" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000260891" "04214" "00365553" "01695" "Unknown" "" "" "8y" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000260892" "04214" "00365554" "01695" "Unknown" "" "" "6y" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000260893" "04214" "00365555" "01695" "Unknown" "" "Retinal flecks" "15y" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000260894" "04214" "00365556" "01695" "Unknown" "" "Retinal flecks" "9y" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000260895" "04214" "00365557" "01695" "Unknown" "5y" "fast progressive early-onset form of STGD1" "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260896" "04214" "00365558" "01695" "Unknown" "6y" "fast progressive early-onset form of STGD1" "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260897" "04214" "00365559" "01695" "Unknown" "8y" "fast progressive early-onset form of STGD1" "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260898" "04214" "00365560" "01695" "Unknown" "10y" "fast progressive early-onset form of STGD1" "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260899" "04214" "00365561" "01695" "Unknown" "11y" "fast progressive early-onset form of STGD1" "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260900" "04214" "00365562" "01695" "Unknown" "11y" "fast progressive early-onset form of STGD1" "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260901" "04214" "00365563" "01695" "Unknown" "7y" "fast progressive early-onset form of STGD1" "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260902" "04214" "00365564" "01695" "Unknown" "11y" "fast progressive early-onset form of STGD1" "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260903" "04214" "00365565" "01695" "Unknown" "6y" "fast progressive early-onset form of STGD1" "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260904" "04214" "00365566" "01695" "Unknown" "11y" "fast progressive early-onset form of STGD1" "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260905" "04214" "00365567" "01695" "Unknown" "8y" "fast progressive early-onset form of STGD1" "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260906" "04214" "00365568" "01695" "Unknown" "9y" "fast progressive early-onset form of STGD1" "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260907" "04214" "00365569" "01695" "Unknown" "8y" "fast progressive early-onset form of STGD1" "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260908" "04214" "00365570" "01695" "Unknown" "7y" "fast progressive early-onset form of STGD1" "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260909" "04214" "00365571" "01695" "Unknown" "5y" "fast progressive early-onset form of STGD1" "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260910" "04214" "00365572" "01695" "Unknown" "8y" "fast progressive early-onset form of STGD1" "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260911" "04214" "00365573" "01695" "Unknown" "6y" "fast progressive early-onset form of STGD1" "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260912" "04214" "00365574" "01695" "Unknown" "6y" "fast progressive early-onset form of STGD1" "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260913" "04214" "00365575" "01695" "Unknown" "6y" "fast progressive early-onset form of STGD1" "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260914" "04214" "00365576" "01695" "Unknown" "8y" "fast progressive early-onset form of STGD1" "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260915" "04214" "00365577" "01695" "Unknown" "9y" "fast progressive early-onset form of STGD1" "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260916" "04214" "00365578" "01695" "Unknown" "5y" "fast progressive early-onset form of STGD1" "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260917" "04214" "00365579" "01695" "Unknown" "9y" "fast progressive early-onset form of STGD1" "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260918" "04214" "00365580" "01695" "Unknown" "10y" "fast progressive early-onset form of STGD1; At the age of diagnosis (D1), fundus abnormalities were: RPE alterations, and BCVA was 20/200" "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260919" "04214" "00365581" "01695" "Unknown" "10y" "fast progressive early-onset form of STGD1" "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260920" "04214" "00365582" "01695" "Unknown" "11y" "fast progressive early-onset form of STGD1" "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260921" "04214" "00365583" "01695" "Unknown" "9y" "fast progressive early-onset form of STGD1" "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260922" "04214" "00365584" "01695" "Unknown" "8y" "fast progressive early-onset form of STGD1" "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260923" "04214" "00365585" "01695" "Unknown" "9y" "fast progressive early-onset form of STGD1" "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260924" "04214" "00365586" "01695" "Unknown" "11y" "fast progressive early-onset form of STGD1" "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260925" "04214" "00365587" "01695" "Unknown" "" "At the age of 27, the BCVA was 0.8 OS and the phenotype was classified as Fishman group 1." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260926" "04214" "00365588" "01695" "Unknown" "" "At the age of 64, the BCVA was 1.3 OS and the phenotype was classified as Fishman group 3." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260927" "04214" "00365589" "01695" "Unknown" "" "At the age of 45, the BCVA was 1.3 OS and the phenotype was classified as Fishman group 3." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260928" "04214" "00365590" "01695" "Unknown" "" "At the age of 43, the BCVA was 1.1 OD and the phenotype was classified as Fishman group 3." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260929" "04214" "00365591" "01695" "Unknown" "" "At the age of 24, the BCVA was 1 OD and the phenotype was classified as Fishman group 2." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260930" "04214" "00365592" "01695" "Unknown" "" "At the age of 46, the BCVA was 1 OD and the phenotype was classified as Fishman group 3." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260931" "04214" "00365593" "01695" "Unknown" "" "At the age of 43, the BCVA was 0.5 OS and the phenotype was classified as Fishman group 4." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260932" "04214" "00365594" "01695" "Unknown" "" "At the age of 39, the BCVA was 1.3 OD and the phenotype was classified as Fishman group 3." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260933" "04214" "00365595" "01695" "Unknown" "" "At the age of 22, the BCVA was 0.7 OS and the phenotype was classified as Fishman group 1." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260934" "04214" "00365596" "01695" "Unknown" "" "At the age of 37, the BCVA was 1 OS and the phenotype was classified as Fishman group 4." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260935" "04214" "00365597" "01695" "Unknown" "" "At the age of 39, the BCVA was 1 OD and the phenotype was classified as Fishman group 1." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260936" "04214" "00365598" "01695" "Unknown" "" "At the age of 29, the BCVA was 0.7 OS and the phenotype was classified as Fishman group 2." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260937" "04214" "00365599" "01695" "Unknown" "" "At the age of 40, the BCVA was 1 OS and the phenotype was classified as Fishman group 2." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260938" "04214" "00365600" "01695" "Unknown" "" "At the age of 36, the BCVA was 0.9 OS and the phenotype was classified as Fishman group 2." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260939" "04214" "00365601" "01695" "Unknown" "" "At the age of 69, the BCVA was 0.9 OD and the phenotype was classified as Fishman group 3." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260940" "04214" "00365602" "01695" "Unknown" "" "At the age of 27, the BCVA was 1 OS and the phenotype was classified as Fishman group 4." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260941" "04214" "00365603" "01695" "Unknown" "" "At the age of 46, the BCVA was 1 OS and the phenotype was classified as Fishman group 3." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260942" "04214" "00365604" "01695" "Unknown" "" "At the age of 39, the BCVA was 0.7 OS and the phenotype was classified as Fishman group 1." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260943" "04214" "00365605" "01695" "Unknown" "" "At the age of 40, the BCVA was 1.3 OS and the phenotype was classified as Fishman group 4." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260944" "04214" "00365606" "01695" "Unknown" "" "At the age of 42, the BCVA was 1.3 OD and the phenotype was classified as Fishman group 4." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260945" "04214" "00365607" "01695" "Unknown" "" "At the age of 22, the BCVA was 0.9 OD and the phenotype was classified as Fishman group 1." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260946" "04214" "00365608" "01695" "Unknown" "" "At the age of 40, the BCVA was 0.7 OD and the phenotype was classified as Fishman group 1." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260947" "04214" "00365609" "01695" "Unknown" "" "At the age of 30, the BCVA was 0.7 OS and the phenotype was classified as Fishman group 2." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260948" "04214" "00365610" "01695" "Unknown" "" "At the age of 19, the BCVA was 0.8 OS and the phenotype was classified as Fishman group 3." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260949" "04214" "00365611" "01695" "Unknown" "" "At the age of 30, the BCVA was 1 OD and the phenotype was classified as Fishman group 3." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260950" "04214" "00365612" "01695" "Unknown" "" "At the age of 23, the BCVA was 0.8 OS and the phenotype was classified as Fishman group 2." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260951" "04214" "00365613" "01695" "Unknown" "" "At the age of 32, the BCVA was 0.7 OS and the phenotype was classified as Fishman group 4." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260952" "04214" "00365614" "01695" "Unknown" "" "At the age of 35, the BCVA was 0.8 OS and the phenotype was classified as Fishman group 1." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260953" "04214" "00365615" "01695" "Unknown" "" "At the age of 27, the BCVA was 0.8 OD and the phenotype was classified as Fishman group 1." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260954" "04214" "00365616" "01695" "Unknown" "" "At the age of 49, the BCVA was 1.3 OS and the phenotype was classified as Fishman group 3." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260955" "04214" "00365617" "01695" "Unknown" "" "At the age of 13, the BCVA was 1 OS and the phenotype was classified as Fishman group 3." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260956" "04214" "00365618" "01695" "Unknown" "" "At the age of 65, the BCVA was 1.1 OD and the phenotype was classified as Fishman group 1." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260957" "04214" "00365619" "01695" "Unknown" "" "At the age of 21, the BCVA was 0.9 OS and the phenotype was classified as Fishman group 4." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260958" "04214" "00365620" "01695" "Unknown" "" "At the age of 27, the BCVA was 0.4 OD and the phenotype was classified as Fishman group 1." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260959" "04214" "00365621" "01695" "Unknown" "" "At the age of 38, the BCVA was 0.7 OD and the phenotype was classified as Fishman group 1." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260960" "04214" "00365622" "01695" "Unknown" "" "At the age of 23, the BCVA was 0.8 OS and the phenotype was classified as Fishman group 2." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260961" "04214" "00365623" "01695" "Unknown" "" "At the age of 33, the BCVA was 0.4 OS and the phenotype was classified as Fishman group 1." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260962" "04214" "00365624" "01695" "Unknown" "" "At the age of 38, the BCVA was 1 OD and the phenotype was classified as Fishman group 1." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260963" "04214" "00365625" "01695" "Unknown" "" "At the age of 31, the BCVA was 0.1 OS and the phenotype was classified as Fishman group 1." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260964" "04214" "00365626" "01695" "Unknown" "" "At the age of 26, the BCVA was 1.3 OD and the phenotype was classified as Fishman group 2." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260965" "04214" "00365627" "01695" "Unknown" "" "At the age of 58, the BCVA was 0.6 OS and the phenotype was classified as Fishman group 2." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260966" "04214" "00365628" "01695" "Unknown" "" "At the age of 47, the BCVA was 0.6 OS and the phenotype was classified as Fishman group 2." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260967" "04214" "00365629" "01695" "Unknown" "" "At the age of 26, the BCVA was 1 OS and the phenotype was classified as Fishman group 4." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260968" "04214" "00365630" "01695" "Unknown" "" "At the age of 64, the BCVA was 0.9 OD and the phenotype was classified as Fishman group 1." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260969" "04214" "00365631" "01695" "Unknown" "" "At the age of 34, the BCVA was 0.7 OS and the phenotype was classified as Fishman group 3." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260970" "04214" "00365632" "01695" "Unknown" "" "At the age of 17, the BCVA was 1 OD and the phenotype was classified as Fishman group 1." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260971" "04214" "00365633" "01695" "Unknown" "" "At the age of 28, the BCVA was 1.3 OD and the phenotype was classified as Fishman group 1." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260972" "04214" "00365634" "01695" "Unknown" "" "At the age of 67, the BCVA was 0.3 OD and the phenotype was classified as Fishman group 3." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260973" "04214" "00365635" "01695" "Unknown" "" "At the age of 20, the BCVA was 0.9 OD and the phenotype was classified as Fishman group 1." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260974" "04214" "00365636" "01695" "Unknown" "" "At the age of 17, the BCVA was 0.6 OD and the phenotype was classified as Fishman group 1." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260975" "04214" "00365637" "01695" "Unknown" "" "At the age of 46, the BCVA was 1 OD and the phenotype was classified as Fishman group 3." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260976" "04214" "00365638" "01695" "Unknown" "" "At the age of 33, the BCVA was 1.3 OD and the phenotype was classified as Fishman group 3." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260977" "04214" "00365639" "01695" "Unknown" "" "" "5y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260978" "04214" "00365640" "01695" "Unknown" "" "no foveal sparing" "18y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260979" "04214" "00365641" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260980" "04214" "00365642" "01695" "Unknown" "" "no foveal sparing" "11y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260981" "04214" "00365643" "01695" "Unknown" "" "foveal sparing" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260982" "04214" "00365644" "01695" "Unknown" "" "no foveal sparing" "18y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260983" "04214" "00365645" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260984" "04214" "00365646" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260985" "04214" "00365647" "01695" "Unknown" "" "no foveal sparing" "5y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260986" "04214" "00365648" "01695" "Unknown" "" "no foveal sparing" "48y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260987" "04214" "00365649" "01695" "Unknown" "" "no foveal sparing" "9y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260988" "04214" "00365650" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260989" "04214" "00365651" "01695" "Unknown" "" "no foveal sparing" "12y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260990" "04214" "00365652" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260991" "04214" "00365653" "01695" "Unknown" "" "foveal sparing" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260992" "04214" "00365654" "01695" "Unknown" "" "no foveal sparing" "7y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260993" "04214" "00365655" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260994" "04214" "00365656" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260995" "04214" "00365657" "01695" "Unknown" "" "foveal sparing" "50y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260996" "04214" "00365658" "01695" "Unknown" "" "no foveal sparing" "45y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260997" "04214" "00365659" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260998" "04214" "00365660" "01695" "Unknown" "" "no foveal sparing" "8y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000260999" "04214" "00365661" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261000" "04214" "00365662" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261001" "04214" "00365663" "01695" "Unknown" "" "foveal sparing" "36y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261002" "04214" "00365664" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261003" "04214" "00365665" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261004" "04214" "00365666" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261005" "04214" "00365667" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261006" "04214" "00365668" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261007" "04214" "00365669" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261008" "04214" "00365670" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261009" "04214" "00365671" "01695" "Unknown" "" "no foveal sparing" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261010" "04214" "00365672" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261011" "04214" "00365673" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261012" "04214" "00365674" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261013" "04214" "00365675" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261014" "04214" "00365676" "01695" "Unknown" "" "no foveal sparing" "5y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261015" "04214" "00365677" "01695" "Unknown" "" "no foveal sparing" "14y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261016" "04214" "00365678" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261017" "04214" "00365679" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261018" "04214" "00365680" "01695" "Unknown" "" "no foveal sparing" "6y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261019" "04214" "00365681" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261020" "04214" "00365682" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261021" "04214" "00365683" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261022" "04214" "00365684" "01695" "Unknown" "" "no foveal sparing" "19y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261023" "04214" "00365685" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261024" "04214" "00365686" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261025" "04214" "00365687" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261026" "04214" "00365688" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261027" "04214" "00365689" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261028" "04214" "00365690" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261029" "04214" "00365691" "01695" "Unknown" "" "foveal sparing" "32y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261030" "04214" "00365692" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261031" "04214" "00365693" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261032" "04214" "00365694" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261033" "04214" "00365695" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261034" "04214" "00365696" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261035" "04214" "00365697" "01695" "Unknown" "" "foveal sparing" "42y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261036" "04214" "00365698" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261037" "04214" "00365699" "01695" "Unknown" "" "no foveal sparing" "13y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261038" "04214" "00365700" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261039" "04214" "00365701" "01695" "Unknown" "" "no foveal sparing" "24y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261040" "04214" "00365702" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261041" "04214" "00365703" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261042" "04214" "00365704" "01695" "Unknown" "" "foveal sparing" "17y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261043" "04214" "00365705" "01695" "Unknown" "" "no foveal sparing" "19y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261044" "04214" "00365706" "01695" "Unknown" "" "no foveal sparing" "8y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261045" "04214" "00365707" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261046" "04214" "00365708" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261047" "04214" "00365709" "01695" "Unknown" "" "foveal sparing" "43y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261048" "04214" "00365710" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261049" "04214" "00365711" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261050" "04214" "00365712" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261051" "04214" "00365713" "01695" "Unknown" "" "foveal sparing" "42y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261052" "04214" "00365714" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261053" "04214" "00365715" "01695" "Unknown" "" "foveal sparing" "34y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261054" "04214" "00365716" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261055" "04214" "00365717" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261056" "04214" "00365718" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261057" "04214" "00365719" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261058" "04214" "00365720" "01695" "Unknown" "" "no foveal sparing" "17y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261059" "04214" "00365721" "01695" "Unknown" "" "" "31y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261060" "04214" "00365722" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261061" "04214" "00365723" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261062" "04214" "00365724" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261063" "04214" "00365725" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261064" "04214" "00365726" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261065" "04214" "00365727" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261066" "04214" "00365728" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261067" "04214" "00365729" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261068" "04214" "00365730" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261069" "04214" "00365731" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261070" "04214" "00365732" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261071" "04214" "00365733" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261072" "04214" "00365734" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261073" "04214" "00365735" "01695" "Unknown" "" "no foveal sparing" "12y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261074" "04214" "00365736" "01695" "Unknown" "" "no foveal sparing" "11y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261075" "04214" "00365737" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261076" "04214" "00365738" "01695" "Unknown" "" "no foveal sparing" "10y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261077" "04214" "00365739" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261078" "04214" "00365740" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261079" "04214" "00365741" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261080" "04214" "00365742" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261081" "04214" "00365743" "01695" "Unknown" "" "no foveal sparing" "12y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261082" "04214" "00365744" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261083" "04214" "00365745" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261084" "04214" "00365746" "01695" "Unknown" "" "no foveal sparing" "3y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261085" "04214" "00365747" "01695" "Unknown" "" "foveal sparing" "32y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261086" "04214" "00365748" "01695" "Unknown" "" "no foveal sparing" "12y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261087" "04214" "00365749" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261088" "04214" "00365750" "01695" "Unknown" "" "no foveal sparing" "17y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261089" "04214" "00365751" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261090" "04214" "00365752" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261091" "04214" "00365753" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261092" "04214" "00365754" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261093" "04214" "00365755" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261094" "04214" "00365756" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261095" "04214" "00365757" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261096" "04214" "00365758" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261097" "04214" "00365759" "01695" "Unknown" "" "foveal sparing" "32y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261098" "04214" "00365760" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261099" "04214" "00365761" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261100" "04214" "00365762" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261101" "04214" "00365763" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261102" "04214" "00365764" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261103" "04214" "00365765" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261104" "04214" "00365766" "01695" "Unknown" "" "" "13y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261105" "04214" "00365767" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261106" "04214" "00365768" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261107" "04214" "00365769" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261108" "04214" "00365770" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261109" "04214" "00365771" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261110" "04214" "00365772" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261111" "04214" "00365773" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261112" "04214" "00365774" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261113" "04214" "00365775" "01695" "Unknown" "" "" "11y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261114" "04214" "00365776" "01695" "Unknown" "" "foveal sparing" "10y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261115" "04214" "00365777" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261116" "04214" "00365778" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261117" "04214" "00365779" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261118" "04214" "00365780" "01695" "Unknown" "" "foveal sparing" "33y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261119" "04214" "00365781" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261120" "04214" "00365782" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261121" "04214" "00365783" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261122" "04214" "00365784" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261123" "04214" "00365785" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261124" "04214" "00365786" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261125" "04214" "00365787" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261126" "04214" "00365788" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261127" "04214" "00365789" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261128" "04214" "00365790" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261129" "04214" "00365791" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261130" "04214" "00365792" "01695" "Unknown" "" "foveal sparing" "36y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261131" "04214" "00365793" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261132" "04214" "00365794" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261133" "04214" "00365795" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261134" "04214" "00365796" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261135" "04214" "00365797" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261136" "04214" "00365798" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261137" "04214" "00365799" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261138" "04214" "00365800" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261139" "04214" "00365801" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261140" "04214" "00365802" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261141" "04214" "00365803" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261142" "04214" "00365804" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261143" "04214" "00365805" "01695" "Unknown" "" "no foveal sparing" "27y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261144" "04214" "00365806" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261145" "04214" "00365807" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261146" "04214" "00365808" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261147" "04214" "00365809" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261148" "04214" "00365810" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261149" "04214" "00365811" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261150" "04214" "00365812" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261151" "04214" "00365813" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261152" "04214" "00365814" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261153" "04214" "00365815" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261154" "04214" "00365816" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261155" "04214" "00365817" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261156" "04214" "00365818" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261157" "04214" "00365819" "01695" "Unknown" "" "foveal sparing" "13y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261158" "04214" "00365820" "01695" "Unknown" "" "foveal sparing" "16y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261159" "04214" "00365821" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261160" "04214" "00365822" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261161" "04214" "00365823" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261162" "04214" "00365824" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261163" "04214" "00365825" "01695" "Unknown" "" "foveal sparing" "49y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261164" "04214" "00365826" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261165" "04214" "00365827" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261166" "04214" "00365828" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261167" "04214" "00365829" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261168" "04214" "00365830" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261169" "04214" "00365831" "01695" "Unknown" "" "foveal sparing" "20y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261170" "04214" "00365832" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261171" "04214" "00365833" "01695" "Unknown" "" "foveal sparing" "42y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261172" "04214" "00365834" "01695" "Unknown" "" "foveal sparing" "36y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261173" "04214" "00365835" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261174" "04214" "00365836" "01695" "Unknown" "" "foveal sparing" "14y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261175" "04214" "00365837" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261176" "04214" "00365838" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261177" "04214" "00365839" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261178" "04214" "00365840" "01695" "Unknown" "" "foveal sparing" "22y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261179" "04214" "00365841" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261180" "04214" "00365842" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261181" "04214" "00365843" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261182" "04214" "00365844" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261183" "04214" "00365845" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261184" "04214" "00365846" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261185" "04214" "00365847" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261186" "04214" "00365848" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261187" "04214" "00365849" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261188" "04214" "00365850" "01695" "Unknown" "" "foveal sparing" "44y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261189" "04214" "00365851" "01695" "Unknown" "" "foveal sparing" "12y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261190" "04214" "00365852" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261191" "04214" "00365853" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261192" "04214" "00365854" "01695" "Unknown" "" "foveal sparing" "47y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261193" "04214" "00365855" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261194" "04214" "00365856" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261195" "04214" "00365857" "01695" "Unknown" "" "no foveal sparing" "5y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261196" "04214" "00365858" "01695" "Unknown" "" "no foveal sparing" "6y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261197" "04214" "00365859" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261198" "04214" "00365860" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261199" "04214" "00365861" "01695" "Unknown" "" "no foveal sparing" "13y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261200" "04214" "00365862" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261201" "04214" "00365863" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261202" "04214" "00365864" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261203" "04214" "00365865" "01695" "Unknown" "" "no foveal sparing" "6y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261204" "04214" "00365866" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261205" "04214" "00365867" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261206" "04214" "00365868" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261207" "04214" "00365869" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261208" "04214" "00365870" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261209" "04214" "00365871" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261210" "04214" "00365872" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261211" "04214" "00365873" "01695" "Unknown" "" "no foveal sparing" "10y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261212" "04214" "00365874" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261213" "04214" "00365875" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261214" "04214" "00365876" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261215" "04214" "00365877" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261216" "04214" "00365878" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261217" "04214" "00365879" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261218" "04214" "00365880" "01695" "Unknown" "" "no foveal sparing" "5y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261219" "04214" "00365881" "01695" "Unknown" "" "no foveal sparing" "11y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261220" "04214" "00365882" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261221" "04214" "00365883" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261222" "04214" "00365884" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261223" "04214" "00365885" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261224" "04214" "00365886" "01695" "Unknown" "" "foveal sparing" "32y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261225" "04214" "00365887" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261226" "04214" "00365888" "01695" "Unknown" "" "no foveal sparing" "8y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261227" "04214" "00365889" "01695" "Unknown" "" "no foveal sparing" "22y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261228" "04214" "00365890" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261229" "04214" "00365891" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261230" "04214" "00365892" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261231" "04214" "00365893" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261232" "04214" "00365894" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261233" "04214" "00365895" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261234" "04214" "00365896" "01695" "Unknown" "" "no foveal sparing" "9y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261235" "04214" "00365897" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261236" "04214" "00365898" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261237" "04214" "00365899" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261238" "04214" "00365900" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261239" "04214" "00365901" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261240" "04214" "00365902" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261241" "04214" "00365903" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261242" "04214" "00365904" "01695" "Unknown" "" "foveal sparing" "33y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261243" "04214" "00365905" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261244" "04214" "00365906" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261245" "04214" "00365907" "01695" "Unknown" "" "foveal sparing" "33y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261246" "04214" "00365908" "01695" "Unknown" "" "no foveal sparing" "10y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261247" "04214" "00365909" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261248" "04214" "00365910" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261249" "04214" "00365911" "01695" "Unknown" "" "foveal sparing" "11y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261250" "04214" "00365912" "01695" "Unknown" "" "no foveal sparing" "7y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261251" "04214" "00365913" "01695" "Unknown" "" "no foveal sparing" "9y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261252" "04214" "00365914" "01695" "Unknown" "" "" "2y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261253" "04214" "00365915" "01695" "Unknown" "" "no foveal sparing" "10y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261254" "04214" "00365916" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261255" "04214" "00365917" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261256" "04214" "00365918" "01695" "Unknown" "" "foveal sparing" "16y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261257" "04214" "00365919" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261258" "04214" "00365920" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261259" "04214" "00365921" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261260" "04214" "00365922" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261261" "04214" "00365923" "01695" "Unknown" "" "no foveal sparing" "21y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261262" "04214" "00365924" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261263" "04214" "00365925" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261264" "04214" "00365926" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261265" "04214" "00365927" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261266" "04214" "00365928" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261267" "04214" "00365929" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261268" "04214" "00365930" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261269" "04214" "00365931" "01695" "Unknown" "" "no foveal sparing" "19y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261270" "04214" "00365932" "01695" "Unknown" "" "" "44y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261271" "04214" "00365933" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261272" "04214" "00365934" "01695" "Unknown" "" "foveal sparing" "25y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261273" "04214" "00365935" "01695" "Unknown" "" "" "7y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261274" "04214" "00365936" "01695" "Unknown" "" "foveal sparing" "43y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261275" "04214" "00365937" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261276" "04214" "00365938" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261277" "04214" "00365939" "01695" "Unknown" "" "foveal sparing" "60y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261278" "04214" "00365940" "01695" "Unknown" "" "foveal sparing" "50y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261279" "04214" "00365941" "01695" "Unknown" "" "no foveal sparing" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261280" "04214" "00365942" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261281" "04214" "00365943" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261282" "04214" "00365944" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261283" "04214" "00365945" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261284" "04214" "00365946" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261285" "04214" "00365947" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261286" "04214" "00365948" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261287" "04214" "00365949" "01695" "Unknown" "" "no foveal sparing" "7y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261288" "04214" "00365950" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261289" "04214" "00365951" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261290" "04214" "00365952" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261291" "04214" "00365953" "01695" "Unknown" "" "no foveal sparing" "10y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261292" "04214" "00365954" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261293" "04214" "00365955" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261294" "04214" "00365956" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261295" "04214" "00365957" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261296" "04214" "00365958" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261297" "04214" "00365959" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261298" "04214" "00365960" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261299" "04214" "00365961" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261300" "04214" "00365962" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261301" "04214" "00365963" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261302" "04214" "00365964" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261303" "04214" "00365965" "01695" "Unknown" "" "" "11y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261304" "04214" "00365966" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261305" "04214" "00365967" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261306" "04214" "00365968" "01695" "Unknown" "" "no foveal sparing" "10y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261307" "04214" "00365969" "01695" "Unknown" "" "foveal sparing" "39y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261308" "04214" "00365970" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261309" "04214" "00365971" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261310" "04214" "00365972" "01695" "Unknown" "" "no foveal sparing" "9y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261311" "04214" "00365973" "01695" "Unknown" "" "foveal sparing" "32y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261312" "04214" "00365974" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261313" "04214" "00365975" "01695" "Unknown" "" "foveal sparing" "42y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261314" "04214" "00365976" "01695" "Unknown" "" "foveal sparing" "57y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261315" "04214" "00365977" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261316" "04214" "00365978" "01695" "Unknown" "" "foveal sparing" "30y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261317" "04214" "00365979" "01695" "Unknown" "" "foveal sparing" "22y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261318" "04214" "00365980" "01695" "Unknown" "" "no foveal sparing" "10y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261319" "04214" "00365981" "01695" "Unknown" "" "no foveal sparing" "43y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261320" "04214" "00365982" "01695" "Unknown" "" "At the age of 61, the BCVA was 20/125 OD and 20/20 OS." "52y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261321" "04214" "00365983" "01695" "Unknown" "" "foveal sparing" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261322" "04214" "00365984" "01695" "Unknown" "" "no foveal sparing" "12y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261323" "04214" "00365985" "01695" "Unknown" "" "no foveal sparing" "8y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261324" "04214" "00365986" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261325" "04214" "00365987" "01695" "Unknown" "" "no foveal sparing" "13y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261326" "04214" "00365988" "01695" "Unknown" "" "no foveal sparing" "8y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261327" "04214" "00365989" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261328" "04214" "00365990" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261329" "04214" "00365991" "01695" "Unknown" "" "no foveal sparing" "5y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261330" "04214" "00365992" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261331" "04214" "00365993" "01695" "Unknown" "" "no foveal sparing" "7y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261332" "04214" "00365994" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261333" "04214" "00365995" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261334" "04214" "00365996" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261335" "04214" "00365997" "01695" "Unknown" "" "foveal sparing" "30y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261336" "04214" "00365998" "01695" "Unknown" "" "foveal sparing" "35y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261337" "04214" "00365999" "01695" "Unknown" "" "foveal sparing" "32y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261338" "04214" "00366000" "01695" "Unknown" "" "foveal sparing" "35y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261339" "04214" "00366001" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261340" "04214" "00366002" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261341" "04214" "00366003" "01695" "Unknown" "" "foveal sparing" "30y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261342" "04214" "00366004" "01695" "Unknown" "" "foveal sparing" "46y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261343" "04214" "00366005" "01695" "Unknown" "" "foveal sparing" "24y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261344" "04214" "00366006" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261345" "04214" "00366007" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261346" "04214" "00366008" "01695" "Unknown" "" "foveal sparing" "47y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261347" "04214" "00366009" "01695" "Unknown" "" "foveal sparing" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261348" "04214" "00366010" "01695" "Unknown" "" "foveal sparing" "50y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261349" "04214" "00366011" "01695" "Unknown" "" "foveal sparing" "20y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261350" "04214" "00366012" "01695" "Unknown" "" "foveal sparing" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261351" "04214" "00366013" "01695" "Unknown" "" "foveal sparing" "45y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261352" "04214" "00366014" "01695" "Unknown" "" "foveal sparing" "30y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261353" "04214" "00366015" "01695" "Unknown" "" "foveal sparing" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261354" "04214" "00366016" "01695" "Unknown" "" "foveal sparing" "45y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261355" "04214" "00366017" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261356" "04214" "00366018" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261357" "04214" "00366019" "01695" "Unknown" "" "foveal sparing" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261358" "04214" "00366020" "01695" "Unknown" "" "no foveal sparing" "26y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261359" "04214" "00366021" "01695" "Unknown" "" "" "10y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261360" "04214" "00366022" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261361" "04214" "00366023" "01695" "Unknown" "" "foveal sparing" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261362" "04214" "00366024" "01695" "Unknown" "" "foveal sparing" "48y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261363" "04214" "00366025" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261364" "04214" "00366026" "01695" "Unknown" "" "no foveal sparing" "13y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261365" "04214" "00366027" "01695" "Unknown" "" "foveal sparing" "50y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261366" "04214" "00366028" "01695" "Unknown" "" "foveal sparing" "31y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261367" "04214" "00366029" "01695" "Unknown" "" "foveal sparing" "27y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261368" "04214" "00366030" "01695" "Unknown" "" "foveal sparing" "28y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261369" "04214" "00366031" "01695" "Unknown" "" "foveal sparing" "52y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261370" "04214" "00366032" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261371" "04214" "00366033" "01695" "Unknown" "" "" "46y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261372" "04214" "00366034" "01695" "Unknown" "" "" "44y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261373" "04214" "00366035" "01695" "Unknown" "" "foveal sparing" "40y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261374" "04214" "00366036" "01695" "Unknown" "" "" "36y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261375" "04214" "00366037" "01695" "Unknown" "" "foveal sparing" "35y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261376" "04214" "00366038" "01695" "Unknown" "" "no foveal sparing" "22y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261377" "04214" "00366039" "01695" "Familial, autosomal recessive" "" "foveal sparing" "71y" "" "Central (OD) and night vision" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261378" "04214" "00366040" "01695" "Unknown" "" "foveal sparing" "67y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261379" "04214" "00366041" "01695" "Unknown" "" "foveal sparing" "52y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261380" "04214" "00366042" "01695" "Unknown" "" "foveal sparing" "48y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261381" "04214" "00366043" "01695" "Unknown" "" "foveal sparing" "40y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261382" "04214" "00366044" "01695" "Unknown" "" "foveal sparing" "40y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261383" "04214" "00366045" "01695" "Unknown" "" "foveal sparing" "32y" "" "Micropsia OD" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261384" "04214" "00366046" "01695" "Unknown" "" "foveal sparing" "31y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261385" "04214" "00366047" "01695" "Unknown" "" "foveal sparing" "29y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261386" "04214" "00366048" "01695" "Unknown" "" "foveal sparing" "21y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261387" "04214" "00366049" "01695" "Unknown" "" "foveal sparing" "18y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261388" "04214" "00366050" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261389" "04214" "00366051" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261390" "04214" "00366052" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261391" "04214" "00366053" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261392" "04214" "00366054" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261393" "04214" "00366055" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261394" "04214" "00366056" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261395" "04214" "00366057" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261396" "04214" "00366058" "01695" "Unknown" "" "foveal sparing" "42y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261397" "04214" "00366059" "01695" "Unknown" "" "foveal sparing" "59y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261398" "04214" "00366060" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261399" "04214" "00366061" "01695" "Unknown" "" "foveal sparing" "57y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261400" "04214" "00366062" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261401" "04214" "00366063" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261402" "04214" "00366064" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261403" "04214" "00366065" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261404" "04214" "00366066" "01695" "Unknown" "" "no foveal sparing" "16y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261405" "04214" "00366067" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261406" "04214" "00366068" "01695" "Unknown" "" "no foveal sparing" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261407" "04214" "00366069" "01695" "Unknown" "" "no foveal sparing" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261408" "04214" "00366070" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261409" "04214" "00366071" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261410" "04214" "00366072" "01695" "Unknown" "" "foveal sparing" "22y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261411" "04214" "00366073" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261412" "04214" "00366074" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261413" "04214" "00366075" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261414" "04214" "00366076" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261415" "04214" "00366077" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261416" "04214" "00366078" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261417" "04214" "00366079" "01695" "Unknown" "" "no foveal sparing" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261418" "04214" "00366080" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261419" "04214" "00366081" "01695" "Unknown" "" "foveal sparing" "28y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261420" "04214" "00366082" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261421" "04214" "00366083" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261422" "04214" "00366084" "01695" "Unknown" "" "foveal sparing" "44y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261423" "04214" "00366085" "01695" "Unknown" "" "foveal sparing" "41y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261424" "04214" "00366086" "01695" "Unknown" "" "foveal sparing" "10y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261425" "04214" "00366087" "01695" "Unknown" "" "no foveal sparing" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261426" "04214" "00366088" "01695" "Unknown" "" "no foveal sparing" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261427" "04214" "00366089" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261428" "04214" "00366090" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261429" "04214" "00366091" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261430" "04214" "00366092" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261431" "04214" "00366093" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261432" "04214" "00366094" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261433" "04214" "00366095" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261434" "04214" "00366096" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261435" "04214" "00366097" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261436" "04214" "00366098" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261437" "04214" "00366099" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261438" "04214" "00366100" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261439" "04214" "00366101" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261440" "04214" "00366102" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261441" "04214" "00366103" "01695" "Unknown" "" "STGD1" "<44y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261442" "04214" "00366104" "01695" "Unknown" "" "STGD1" "<41y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261443" "04214" "00366105" "01695" "Unknown" "" "STGD1" "<41y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261444" "04214" "00366106" "01695" "Unknown" "" "STGD1 v Pattern Dystrophy" "<67y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261445" "04214" "00366107" "01695" "Unknown" "" "STGD1" "<39y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261446" "04214" "00366108" "01695" "Unknown" "" "STGD1" "<46y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261447" "04214" "00366109" "01695" "Unknown" "" "STGD1 v Pattern Dystrophy" "<66y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261448" "04214" "00366110" "01695" "Unknown" "" "STGD1" "<54y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261449" "04214" "00366111" "01695" "Unknown" "" "STGD1" "<33y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261450" "04214" "00366112" "01695" "Unknown" "" "STGD1" "<49y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261451" "04214" "00366113" "01695" "Unknown" "" "STGD1" "<44y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261452" "04214" "00366114" "01695" "Unknown" "" "STGD1" "<72y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261453" "04214" "00366115" "01695" "Unknown" "" "STGD1" "<39y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261454" "04214" "00366116" "01695" "Unknown" "" "STGD1" "<19y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261455" "04214" "00366117" "01695" "Unknown" "" "STGD1" "<26y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261456" "04214" "00366118" "01695" "Unknown" "" "STGD1" "<15y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261457" "04214" "00366119" "01695" "Unknown" "" "STGD1" "<16y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261458" "04214" "00366120" "01695" "Unknown" "" "STGD1" "<27y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261459" "04214" "00366121" "01695" "Unknown" "" "STGD1" "<32y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261460" "04214" "00366122" "01695" "Unknown" "" "STGD1" "<58y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261461" "04214" "00366123" "01695" "Unknown" "" "STGD1" "<52y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261462" "04214" "00366124" "01695" "Unknown" "" "STGD1" "<60y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261463" "04214" "00366125" "01695" "Unknown" "" "STGD1" "<36y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261464" "04214" "00366126" "01695" "Unknown" "" "STGD1" "<18y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261465" "04214" "00366127" "01695" "Unknown" "" "STGD1" "<15y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261466" "04214" "00366128" "01695" "Unknown" "" "STGD1" "<45y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261467" "04214" "00366129" "01695" "Unknown" "" "STGD1" "<21y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261468" "04214" "00366130" "01695" "Unknown" "" "STGD1" "<31y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261469" "04214" "00366131" "01695" "Unknown" "" "STGD1" "<42y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261470" "04214" "00366132" "01695" "Unknown" "" "STGD1" "<60y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261471" "04214" "00366133" "01695" "Unknown" "" "STGD1" "<12y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261472" "04214" "00366134" "01695" "Unknown" "" "STGD1" "<68y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261473" "04214" "00366135" "01695" "Unknown" "" "STGD1" "<19y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261474" "04214" "00366136" "01695" "Unknown" "" "STGD1" "<14y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261475" "04214" "00366137" "01695" "Unknown" "" "STGD1" "<69y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261476" "04214" "00366138" "01695" "Unknown" "" "STGD1" "<13y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261477" "04214" "00366139" "01695" "Unknown" "" "STGD1" "<36y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261478" "04214" "00366140" "01695" "Unknown" "" "STGD1" "<48y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261479" "04214" "00366141" "01695" "Unknown" "" "STGD1" "<34y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261480" "04214" "00366142" "01695" "Unknown" "" "STGD1" "<12y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261481" "04214" "00366143" "01695" "Unknown" "" "STGD1" "<27y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261482" "04214" "00366144" "01695" "Unknown" "" "STGD1" "<24y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261483" "04214" "00366145" "01695" "Unknown" "" "STGD1" "<8y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261484" "04214" "00366146" "01695" "Unknown" "" "STGD1 v Batten Disease" "<9y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261485" "04214" "00366147" "01695" "Unknown" "" "STGD1" "<62y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261486" "04214" "00366148" "01695" "Unknown" "" "STGD1" "<16y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261487" "04214" "00366149" "01695" "Unknown" "" "STGD1 v Pattern Dystrophy" "<47y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261488" "04214" "00366150" "01695" "Unknown" "" "STGD1" "<49y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261489" "04214" "00366151" "01695" "Unknown" "" "STGD1" "<14y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261490" "04214" "00366152" "01695" "Unknown" "" "STGD1" "<20y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261491" "04214" "00366153" "01695" "Unknown" "" "STGD1" "<44y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261492" "04214" "00366154" "01695" "Unknown" "" "STGD1" "<18y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261493" "04214" "00366155" "01695" "Unknown" "" "STGD1" "<16y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261494" "04214" "00366156" "01695" "Unknown" "" "STGD1" "<14y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261495" "04214" "00366157" "01695" "Unknown" "" "STGD1" "<62y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261496" "04214" "00366158" "01695" "Unknown" "" "STGD1" "<54y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261497" "04214" "00366159" "01695" "Unknown" "" "STGD1" "<56y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261498" "04214" "00366160" "01695" "Unknown" "" "STGD1" "<31y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261499" "04214" "00366161" "01695" "Unknown" "" "STGD1" "<63y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261500" "04214" "00366162" "01695" "Unknown" "" "STGD1" "<27y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261501" "04214" "00366163" "01695" "Unknown" "" "STGD1" "<19y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261502" "04214" "00366164" "01695" "Unknown" "" "STGD1" "<20y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261503" "04214" "00366165" "01695" "Unknown" "" "STGD1" "<55y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261504" "04214" "00366166" "01695" "Unknown" "" "STGD1" "<11y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261505" "04214" "00366167" "01695" "Unknown" "" "STGD1 v Pattern Dystrophy" "<33y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261506" "04214" "00366168" "01695" "Unknown" "" "STGD1" "<32y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261507" "04214" "00366169" "01695" "Unknown" "" "STGD1" "<24y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261508" "04214" "00366170" "01695" "Unknown" "" "STGD1" "<38y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261509" "04214" "00366171" "01695" "Unknown" "" "STGD1" "<14y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261510" "04214" "00366172" "01695" "Unknown" "" "STGD1" "<41y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261511" "04214" "00366173" "01695" "Unknown" "" "STGD1" "<26y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261512" "04214" "00366174" "01695" "Unknown" "" "STGD1" "<56y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261513" "04214" "00366175" "01695" "Unknown" "" "STGD1" "<52y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261514" "04214" "00366176" "01695" "Unknown" "" "STGD1" "<28y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261515" "04214" "00366177" "01695" "Unknown" "" "STGD1" "<33y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261516" "04214" "00366178" "01695" "Unknown" "" "STGD1" "<35y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261517" "04214" "00366179" "01695" "Unknown" "" "STGD1" "<19y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261518" "04214" "00366180" "01695" "Unknown" "" "STGD1" "<46y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261519" "04214" "00366181" "01695" "Unknown" "" "STGD1" "<23y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261520" "04214" "00366182" "01695" "Unknown" "" "STGD1" "<24y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261521" "04214" "00366183" "01695" "Unknown" "" "STGD1" "<22y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261522" "04214" "00366184" "01695" "Unknown" "" "STGD1" "<59y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261523" "04214" "00366185" "01695" "Unknown" "" "STGD1" "<63y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261524" "04214" "00366186" "01695" "Unknown" "" "STGD1" "<17y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261525" "04214" "00366187" "01695" "Unknown" "" "STGD1" "<48y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261526" "04214" "00366188" "01695" "Unknown" "" "STGD1" "<23y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261527" "04214" "00366189" "01695" "Unknown" "" "STGD1" "<17y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261528" "04214" "00366190" "01695" "Unknown" "" "STGD1" "<8y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261529" "04214" "00366191" "01695" "Unknown" "" "STGD1" "<26y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261530" "04214" "00366192" "01695" "Unknown" "" "STGD1" "<10y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261531" "04214" "00366193" "01695" "Unknown" "" "STGD1" "<43y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261532" "04214" "00366194" "01695" "Unknown" "" "STGD1" "<13y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261533" "04214" "00366195" "01695" "Unknown" "" "STGD1" "<16y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261534" "04214" "00366196" "01695" "Unknown" "" "STGD1" "<62y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261535" "04214" "00366197" "01695" "Unknown" "" "STGD1" "<12y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261536" "04214" "00366198" "01695" "Unknown" "" "STGD1" "<53y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261537" "04214" "00366199" "01695" "Unknown" "" "STGD1" "<15y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261538" "04214" "00366200" "01695" "Unknown" "" "STGD1" "<26y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261539" "04214" "00366201" "01695" "Unknown" "" "STGD1" "<9y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261540" "04214" "00366202" "01695" "Unknown" "" "STGD1" "<15y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261541" "04214" "00366203" "01695" "Unknown" "" "STGD1" "<24y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261542" "04214" "00366204" "01695" "Unknown" "" "STGD1" "<22y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261543" "04214" "00366205" "01695" "Unknown" "" "STGD1" "<14y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261544" "04214" "00366206" "01695" "Unknown" "" "STGD1" "<57y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261545" "04214" "00366207" "01695" "Unknown" "" "STGD1" "<33y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261546" "04214" "00366208" "01695" "Unknown" "" "STGD1" "<52y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261547" "04214" "00366209" "01695" "Unknown" "" "STGD1" "<36y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261548" "04214" "00366210" "01695" "Unknown" "" "STGD1 v Pattern Dystrophy" "<59y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261549" "04214" "00366211" "01695" "Unknown" "" "STGD1" "<21y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261550" "04214" "00366212" "01695" "Unknown" "" "STGD1" "<16y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261551" "04214" "00366213" "01695" "Unknown" "" "STGD1" "<68y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261552" "04214" "00366214" "01695" "Unknown" "" "STGD1" "<11y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261553" "04214" "00366215" "01695" "Unknown" "" "Stardardt Disease" "<30y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261554" "04214" "00366216" "01695" "Unknown" "" "STGD1" "<76y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261555" "04214" "00366217" "01695" "Unknown" "" "STGD1" "<62y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261556" "04214" "00366218" "01695" "Unknown" "" "STGD1" "<88y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261557" "04214" "00366219" "01695" "Unknown" "" "STGD1 v Nummular Choroidal Atrophy" "<59y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261558" "04214" "00366220" "01695" "Unknown" "" "STGD1" "<75y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261559" "04214" "00366221" "01695" "Unknown" "" "STGD1" "<32y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261560" "04214" "00366222" "01695" "Unknown" "" "STGD1" "<37y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261561" "04214" "00366223" "01695" "Unknown" "" "STGD1 v Isolated Progressive Photoreceptor Disease" "<10y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261562" "04214" "00366224" "01695" "Unknown" "" "STGD1" "<22y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261563" "04214" "00366225" "01695" "Unknown" "" "STGD1" "<41y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261564" "04214" "00366226" "01695" "Unknown" "" "STGD1" "<57y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261565" "04214" "00366227" "01695" "Unknown" "" "STGD1" "<44y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261566" "04214" "00366228" "01695" "Unknown" "" "STGD1" "<29y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261567" "04214" "00366229" "01695" "Unknown" "" "STGD1" "<23y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261568" "04214" "00366230" "01695" "Unknown" "" "STGD1" "<37y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261569" "04214" "00366231" "01695" "Unknown" "" "STGD1" "<38y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261570" "04214" "00366232" "01695" "Unknown" "" "STGD1" "<10y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261571" "04214" "00366233" "01695" "Unknown" "" "STGD1" "<27y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261572" "04214" "00366234" "01695" "Unknown" "" "STGD1" "<31y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261573" "04214" "00366235" "01695" "Unknown" "" "STGD1" "<44y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261574" "04214" "00366236" "01695" "Unknown" "" "STGD1" "<71y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261575" "04214" "00366237" "01695" "Unknown" "" "STGD1 v Batten Disease" "<10y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261576" "04214" "00366238" "01695" "Unknown" "" "STGD1" "<15y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261577" "04214" "00366239" "01695" "Unknown" "" "STGD1" "<39y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261578" "04214" "00366240" "01695" "Unknown" "" "STGD1" "<65y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261579" "04214" "00366241" "01695" "Unknown" "" "STGD1" "<36y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261580" "04214" "00366242" "01695" "Unknown" "" "STGD1" "<11y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261581" "04214" "00366243" "01695" "Unknown" "" "STGD1" "<15y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261582" "04214" "00366244" "01695" "Unknown" "" "STGD1" "<27y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261583" "04214" "00366245" "01695" "Unknown" "" "STGD1" "<70y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261584" "04214" "00366246" "01695" "Unknown" "" "STGD1" "<21y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261585" "04214" "00366247" "01695" "Unknown" "" "STGD1" "<34y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261586" "04214" "00366248" "01695" "Unknown" "" "STGD1" "<52y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261587" "04214" "00366249" "01695" "Unknown" "" "STGD1" "<61y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261588" "04214" "00366250" "01695" "Unknown" "" "STGD1" "<29y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261589" "04214" "00366251" "01695" "Unknown" "" "STGD1" "<16y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261590" "04214" "00366252" "01695" "Unknown" "" "STGD1" "<43y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261591" "04214" "00366253" "01695" "Unknown" "" "STGD1" "<38y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261592" "04214" "00366254" "01695" "Unknown" "" "STGD1" "<42y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261593" "04214" "00366255" "01695" "Unknown" "" "STGD1" "<44y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261594" "04214" "00366256" "01695" "Unknown" "" "STGD1" "<43y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261595" "04214" "00366257" "01695" "Unknown" "" "STGD1" "<20y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261596" "04214" "00366258" "01695" "Unknown" "" "STGD1" "<60y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261597" "04214" "00366259" "01695" "Unknown" "" "STGD1" "<31y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261598" "04214" "00366260" "01695" "Unknown" "" "STGD1" "<27y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261599" "04214" "00366261" "01695" "Unknown" "" "STGD1" "<34y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261600" "04214" "00366262" "01695" "Unknown" "" "STGD1" "<56y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261601" "04214" "00366263" "01695" "Unknown" "" "STGD1" "<25y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261602" "04214" "00366264" "01695" "Unknown" "" "STGD1" "<48y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261603" "04214" "00366265" "01695" "Unknown" "" "STGD1" "<47y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261604" "04214" "00366266" "01695" "Unknown" "" "STGD1" "<40y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261605" "04214" "00366267" "01695" "Unknown" "" "STGD1" "<33y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261606" "04214" "00366268" "01695" "Unknown" "" "Pattern Dystrophy v STGD1" "<50y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261607" "04214" "00366269" "01695" "Unknown" "" "Pattern Dystrophy v STGD1" "<73y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261608" "04214" "00366270" "01695" "Unknown" "" "Pattern Dystrophy v STGD1" "<38y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261609" "04214" "00366271" "01695" "Unknown" "" "Pattern Dystrophy v STGD1" "<49y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261610" "04214" "00366272" "01695" "Unknown" "" "Pattern Dystrophy v STGD1" "<58y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261611" "04214" "00366273" "01695" "Unknown" "" "Pattern Dystrophy v STGD1" "<60y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261612" "04214" "00366274" "01695" "Unknown" "" "Pattern Dystrophy v STGD1" "<48y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261613" "04214" "00366275" "01695" "Unknown" "" "bull\'s eye maculopathy and absence of flecks" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261614" "04214" "00366276" "01695" "Unknown" "" "bull\'s eye maculopathy and absence of flecks" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261615" "04214" "00366277" "01695" "Unknown" "" "A 37-year-old man presented with a 3-year history of decreased vision in the right eye, which had recently become worse. Examination revealed a visual acuity of 6/24 in the right eye and of 6/6 in the left eye, normal pupil reactions, 1/15 Ishihara colour vision test plates read correctly with each eye, full ocular motility and an otherwise normal cranial nerve examination. Anterior segment examination showed no abnormalities, and fundus examination revealed scattered atrophy and pisciform fundal flecks at both maculae, which were worse in the right eye. Fluorescein angiography demonstrated a silent choroid and partial bull’s eye maculopathy which was worse in the right eye. Optical coherence tomography (OCT) showed loss of photoreceptors at both maculae with partial central sparing in the left eye. Photopic and scotopic flash electroretinograms (ERGs) showed reduced amplitudes of responses in the major ERG components in the right eye and amplitudes within the lower range of normal in the left eye. Implicit times in both eyes were within normal limits. The pattern ERG and multifocal ERG demonstrated central retinal dysfunction with the retention of peripheral function." "34y" "" "decreased vision in the right eye" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261616" "04214" "00366278" "01695" "Unknown" "" "At the time of his initial visit, the 6-year-old boy presented with 20/200 OD and 20/150 OS, symmetrical mild foveal atrophy without flecks on fundus exam, and foveal hypoautofluorescence surrounded by a homogeneous hyperautofluorescent background on wide-field fundus autofluorescence (WF-FAF). Over four years of follow-up, the retinal atrophy continued to progress, resulting in two well-defined and concentric hyperautofluorescent rings: one ring located at the posterior pole and the other located around the peripapillary region. Visual acuity also deteriorated to counting fingers at 4ft OD and 20/500 OS. Over four years of follow-up, the patient’s BCVA progressively decreased to counting fingers at 4 feet OD and 20/500 OS. Over this same time, GVF showed enlargement of the central scotomata and constriction of the peripheral isopters. However, due to the young age of the patient, responses were inconsistent and unreliable. On WF-FAF, the hyperautofluorescent background gradually expanded centrifugally towards the vascular arcades and around the peripapillary region, with concomitant hypoautofluorecence of the encircled area. As a result, a well-defined hyperautofluorescent ring was formed around the entire posterior pole, and subsequent atrophy created a gap, allowing a second inner hyperautofluorescent ring around the peripapillary region to develop." "6y" "" "progressive visual loss in both eyes" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261617" "04214" "00366279" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261618" "04214" "00366280" "01695" "Isolated (sporadic)" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000261619" "04214" "00366281" "01695" "Isolated (sporadic)" "" "An 11-year-old otherwise healthy girl presented with gradual vision decrease in both eyes over the preceding 4 years. Best-corrected visual acuity was 20/125 right eye and 20/200 left eye. The patient demonstrated eccentric fixation. Pupillary responses were normal. Slit-lamp examination was normal. Fundus examination revealed healthy optic nerves and retinal blood vessels, bilateral macular geographic pigmentary stippling with subretinal flecks in and around this area, and a blunted internal limiting membrane reflex. Peripheral retina was normal. Fundus autofluorescence revealed hyperfluorescent flecks throughout the posterior pole extending to the midperiphery and a central geographic area of mixed hypofluorescence and hyperfluorescence surrounded by a hyperfluorescent ring. Intravenous fluorescein angiography showed silent choroid. Multifocal electroretinogram showed severely decreased amplitude in both eyes centrally and paracentrally with mild improvement in the peripheral macula. Fullfield electroretinogram waveforms were normal in response to scotopic and combined flash stimuli in both eyes. The single flash photopic and 30-Hz flicker stimuli waveforms were mildly decreased in amplitude and delayed. Goldmann visual field suggested an area of relative scotoma centrally in each eye. Optical coherence tomography showed foveal thinning (119 ?m right eye, 116 ?m left eye), loss of the photoreceptors in the macular geographic areas, and subretinal flecks extending outward from this area." "7y" "" "gradual vision decrease in both eyes" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261620" "04214" "00366282" "01695" "Unknown" "" "He was diagnosed with severe myopia of ?6.00 and Stargardt’s dystrophy at age 17. At age 29 his visual acuity was 20/40, fluorescein angiography and fundus pictures showed hyperfluorescence in the fovea, and macular RPE atrophy and pigmentary clumping surrounded the fovea in both eyes." "13y" "" "blurred vision" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261621" "04214" "00366283" "01695" "Unknown" "" "At age 33, the patient had abnormal color vision and near visual acuities were 20/40 at 24 cm and 20/200 at 16 cm. Fundus photography showed diffuse generalized RPE atrophy throughout the fundus with small patches of pigmentary clumping. No micropsia or metamorphosis was seen and the Amsler test was negative." "<33y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261622" "04214" "00366284" "01695" "Unknown" "" "At the age of 10, there was no pigment migration and outer retinal atrophy. The BCVA was 20/400 OD and 20/400 OS (Snellen)." "7y" "" "symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261623" "04214" "00366285" "01695" "Unknown" "" "At the age of 10, there was no pigment migration and no outer retinal atrophy. The BCVA was 20/300 OD and 20/200 OS (Snellen)." "10y" "" "symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261624" "04214" "00366286" "01695" "Unknown" "" "At the age of 16, there was pigment migration and outer retinal atrophy. The BCVA was 20/400 OD and 20/400 OS (Snellen)." "6y" "" "symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261625" "04214" "00366287" "01695" "Unknown" "" "At the age of 17, there was pigment migration and outer retinal atrophy. The BCVA was CF OD and 20/400 OS (Snellen)." "5y" "" "symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261626" "04214" "00366288" "01695" "Unknown" "" "At the age of 22, there was pigment migration and outer retinal atrophy. The BCVA was 20/400 OD and 20/400 OS (Snellen)." "7y" "" "symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261627" "04214" "00366289" "01695" "Unknown" "" "At the age of 26, there was pigment migration and outer retinal atrophy. The BCVA was 20/400 OD and 20/400 OS (Snellen)." "9y" "" "symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261628" "04214" "00366290" "01695" "Unknown" "" "At the age of 27, there was pigment migration and outer retinal atrophy. The BCVA was 20/400 OD and 20/400 OS (Snellen)." "9y" "" "symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261629" "04214" "00366291" "01695" "Unknown" "" "At the age of 29, there was pigment migration and outer retinal atrophy. The BCVA was CF OD and 20/400 OS (Snellen)." "7y" "" "symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261630" "04214" "00366292" "01695" "Unknown" "" "At the age of 30, there was pigment migration and outer retinal atrophy. The BCVA was 20/200 OD and 20/250 OS (Snellen)." "6y" "" "symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261631" "04214" "00366293" "01695" "Unknown" "" "At the age of 30, there was pigment migration and outer retinal atrophy. The BCVA was 20/400 OD and 20/400 OS (Snellen)." "9y" "" "symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261632" "04214" "00366294" "01695" "Unknown" "" "At the age of 33, there was pigment migration and outer retinal atrophy. The BCVA was 20/400 OD and 20/800 OS (Snellen)." "10y" "" "symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261633" "04214" "00366295" "01695" "Unknown" "" "At the age of 34, there was pigment migration and outer retinal atrophy. The BCVA was 20/300 OD and 20/400 OS (Snellen)." "10y" "" "symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261634" "04214" "00366296" "01695" "Unknown" "" "At the age of 41, there was pigment migration and outer retinal atrophy. The BCVA was CF OD and CF OS (Snellen)." "9y" "" "symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261635" "04214" "00366297" "01695" "Unknown" "" "STGD1 type 2 according to Noble and Carr., 1979 Visual acuity was 0.2 (OD) and 0.2 (OS)." "43y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261636" "04214" "00366298" "01695" "Unknown" "" "STGD1 type 2 according to Noble and Carr., 1979 Visual acuity was 0.1 (OD) and 0.1 (OS)." "20y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261637" "04214" "00366299" "01695" "Unknown" "" "STGD1 type 2 according to Noble and Carr., 1979 Visual acuity was 0.13 (OD) and 0.1 (OS)." "9y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261638" "04214" "00366300" "01695" "Unknown" "" "STGD1 type 2 according to Noble and Carr., 1979 Visual acuity was 0.2 (OD) and 0.28 (OS)." "12y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261639" "04214" "00366301" "01695" "Unknown" "" "STGD1 type 1 according to Noble and Carr., 1979 Visual acuity was 0.09 (OD) and 0.08 (OS)." "10y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261640" "04214" "00366302" "01695" "Unknown" "" "STGD1 type 3 according to Noble and Carr., 1979 Visual acuity was 0.1 (OD) and 0.1 (OS)." "25y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261641" "04214" "00366303" "01695" "Unknown" "" "STGD1 type 3 according to Noble and Carr., 1979 Visual acuity was 0.05 (OD) and 0.03 (OS)." "17y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261642" "04214" "00366304" "01695" "Unknown" "" "STGD1 type 2 according to Noble and Carr., 1979 Visual acuity was 0.2 (OD) and 0.2 (OS)." "18y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261643" "04214" "00366305" "01695" "Unknown" "" "STGD1 type 1 according to Noble and Carr., 1979 Visual acuity was 0.13 (OD) and 0.13 (OS)." "7y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261644" "04214" "00366306" "01695" "Unknown" "" "STGD1 type 3 according to Noble and Carr., 1979 Visual acuity was 0.13 (OD) and 0.2 (OS)." "8y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261645" "04214" "00366307" "01695" "Unknown" "" "STGD1 type 3 according to Noble and Carr., 1979 Visual acuity was 0.5 (OD) and 0.1 (OS)." "41y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261646" "04214" "00366308" "01695" "Unknown" "" "STGD1 type 1 according to Noble and Carr., 1979 Visual acuity was 0.3 (OD) and 0.3 (OS)." "13y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261647" "04214" "00366309" "01695" "Unknown" "" "STGD1 type 2 according to Noble and Carr., 1979 Visual acuity was 0.025 (OD) and 0.025 (OS)." "10y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261648" "04214" "00366310" "01695" "Unknown" "" "STGD1 type 1 according to Noble and Carr., 1979 Visual acuity was 0.05 (OD) and 0.05 (OS)." "5y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261649" "04214" "00366311" "01695" "Unknown" "" "STGD1 type 1 according to Noble and Carr., 1979 Visual acuity was 0.1 (OD) and 0.1 (OS)." "6y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261650" "04214" "00366312" "01695" "Unknown" "" "STGD1 type 3 according to Noble and Carr., 1979 Visual acuity was 0.1 (OD) and 0.1 (OS)." "8y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261651" "04214" "00366313" "01695" "Unknown" "" "STGD1 type 3 according to Noble and Carr., 1979 Visual acuity was 0.2 (OD) and 0.2 (OS)." "7y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261652" "04214" "00366314" "01695" "Unknown" "" "STGD1 type 3 according to Noble and Carr., 1979 Visual acuity was 0.13 (OD) and 0.13 (OS)." "15y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261653" "04214" "00366315" "01695" "Unknown" "" "STGD1 type 3 according to Noble and Carr., 1979 Visual acuity was 0.13 (OD) and 0.1 (OS)." "13y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261654" "04214" "00366316" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261655" "04214" "00366317" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261656" "04214" "00366318" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261657" "04214" "00366319" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261658" "04214" "00366320" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261659" "04214" "00366321" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261660" "04214" "00366322" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261661" "04214" "00366323" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261662" "04214" "00366324" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261663" "04214" "00366325" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261664" "04214" "00366326" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261665" "04214" "00366327" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261666" "04214" "00366328" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261667" "04214" "00366329" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261668" "04214" "00366330" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261669" "04214" "00366331" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261670" "04214" "00366332" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261671" "04214" "00366333" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261672" "04214" "00366334" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261673" "04214" "00366335" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261674" "04214" "00366336" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261675" "04214" "00366337" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261676" "04214" "00366338" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261677" "04214" "00366339" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261678" "04214" "00366340" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261679" "04214" "00366341" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261680" "04214" "00366342" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261681" "04214" "00366343" "01695" "Unknown" "" "At the age of 34, BCVA was 20/300 (OD) and 20/400 (OS). An unusual accumulation of hyper-reflective deposits is observed. Although the precise composition of the deposits is unknown, they were found to cluster predominantly in the superotemporal region of the macula in the subretinal space." "10y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261682" "04214" "00366344" "01695" "Unknown" "" "At the age of 30, BCVA was CF (OD) and 20/400 (OS). An unusual accumulation of hyper-reflective deposits is observed. Although the precise composition of the deposits is unknown, they were found to cluster predominantly in the superotemporal region of the macula in the subretinal space." "7y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261683" "04214" "00366345" "01695" "Unknown" "" "At the age of 33, BCVA was CF (OD) and 20/300 (OS). An unusual accumulation of hyper-reflective deposits is observed. Although the precise composition of the deposits is unknown, they were found to cluster predominantly in the superotemporal region of the macula in the subretinal space." "7y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261684" "04214" "00366346" "01695" "Unknown" "" "At the age of 26, BCVA was CF (OD) and CF (OS). An unusual accumulation of hyper-reflective deposits is observed. Although the precise composition of the deposits is unknown, they were found to cluster predominantly in the superotemporal region of the macula in the subretinal space." "10y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261685" "04214" "00366347" "01695" "Unknown" "" "At the age of 38, BCVA was 20/400 (OD) and 20/400 (OS). An unusual accumulation of hyper-reflective deposits is observed. Although the precise composition of the deposits is unknown, they were found to cluster predominantly in the superotemporal region of the macula in the subretinal space." "10y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261686" "04214" "00366348" "01695" "Unknown" "" "At the age of 52, BCVA was 20/100 (OD) and 20/30+2 (OS). An unusual accumulation of hyper-reflective deposits is observed. Although the precise composition of the deposits is unknown, they were found to cluster predominantly in the superotemporal region of the macula in the subretinal space.; At the age of 54 BCVA OD was CF and BCVA OS was 20/40. FAF showed severe disease with central atrophy and widespread dark mottling." "51y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261687" "04214" "00366349" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261688" "04214" "00366350" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261689" "04214" "00366351" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinal dystrophy" ""
"0000261690" "04214" "00366352" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "macular dystrophy" ""
"0000261691" "04214" "00366353" "01695" "Unknown" "" "At the age of 13, the visual acuity in the right eye was 20/200 and in the left eye was 20/200þ2. Autofluorescence findings: an area of foveal hypofluorescence surrounded by an area with a more heterogeneous appearance and with foci of hyperautofluorescence and hypoautofluorescence that extend to the temporal arches, giving the retina a reticulate appearance" "8y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261692" "04214" "00366354" "01695" "Unknown" "" "At the age of 31, the visual acuity in the right eye was CF 1.5m and in the left eye was CF 1.5m. Autofluorescence findings: extensive areas of hypoautofluorescence in the posterior pole and a heterogeneous appearance of the remaining retinal areas with foci of hyperautofluorescence and hypoautofluorescence" "7y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261693" "04214" "00366355" "01695" "Unknown" "" "At the age of 23, the visual acuity in the right eye was not available and in the left eye was not available. Autofluorescence findings: an area of foveal hypofluorescence surrounded by a homogeneous-appearing retina" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261694" "04214" "00366356" "01695" "Unknown" "" "At the age of 35, the visual acuity in the right eye was not available and in the left eye was not available. Autofluorescence findings: not available" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261695" "04214" "00366357" "01695" "Unknown" "" "At the age of 59, the visual acuity in the right eye was HM and in the left eye was CF 10cm. Autofluorescence findings: extensive areas of hypoautofluorescence in the posterior pole and a heterogeneous appearance of the remaining retinal areas with foci of hyperautofluorescence and hypoautofluorescence" "7y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261696" "04214" "00366358" "01695" "Unknown" "" "At the age of 65, the visual acuity in the right eye was HM and in the left eye was HM. Autofluorescence findings: extensive areas of hypoautofluorescence in the posterior pole and a heterogeneous appearance of the remaining retinal areas with foci of hyperautofluorescence and hypoautofluorescence" "8y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261697" "04214" "00366359" "01695" "Unknown" "" "At the age of 11, the visual acuity in the right eye was 20/30 and in the left eye was 20/30. Autofluorescence findings: an area of foveal hypofluorescence surrounded by a homogeneous-appearing retina" "10y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261698" "04214" "00366360" "01695" "Unknown" "" "At the age of 37, the visual acuity in the right eye was 20/150þ2 and in the left eye was 20/150þ2. Autofluorescence findings: an area of foveal hypofluorescence surrounded by an area with a more heterogeneous appearance and with foci of hyperautofluorescence and hypoautofluorescence that extend to the temporal arches, giving the retina a reticulate appearance" "14y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261699" "04214" "00366361" "01695" "Unknown" "" "At the age of 10, the visual acuity in the right eye was 20/200 and in the left eye was CF 2m. Autofluorescence findings: an area of foveal hypofluorescence surrounded by an area with a more heterogeneous appearance and with foci of hyperautofluorescence and hypoautofluorescence that extend to the temporal arches, giving the retina a reticulate appearance" "8y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261700" "04214" "00366362" "01695" "Unknown" "" "At the age of 26, the visual acuity in the right eye was CF 50cm and in the left eye was CF 2m. Autofluorescence findings: extensive areas of hypoautofluorescence in the posterior pole and a heterogeneous appearance of the remaining retinal areas with foci of hyperautofluorescence and hypoautofluorescence" "8y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261701" "04214" "00366363" "01695" "Unknown" "" "At the age of 26, the visual acuity in the right eye was CF 2m and in the left eye was CF 1m. Autofluorescence findings: extensive areas of hypoautofluorescence in the posterior pole and a heterogeneous appearance of the remaining retinal areas with foci of hyperautofluorescence and hypoautofluorescence" "5y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261702" "04214" "00366364" "01695" "Unknown" "" "At the age of 32, the visual acuity in the right eye was 20/80 and in the left eye was 20/80. Autofluorescence findings: an area of foveal hypofluorescence surrounded by a homogeneous-appearing retina" "32y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261703" "04214" "00366365" "01695" "Unknown" "" "At the age of 30, the visual acuity in the right eye was 20/200 and in the left eye was 20/200. Autofluorescence findings: an area of foveal hypofluorescence surrounded by a homogeneous-appearing retina" "12y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261704" "04214" "00366366" "01695" "Unknown" "" "At the age of not available, the visual acuity in the right eye was not available and in the left eye was not available. Autofluorescence findings: extensive areas of hypoautofluorescence in the posterior pole and a heterogeneous appearance of the remaining retinal areas with foci of hyperautofluorescence and hypoautofluorescence" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261705" "04214" "00366367" "01695" "Unknown" "" "At the age of 20, the visual acuity in the right eye was 20/60 and in the left eye was 20/60. Autofluorescence findings: an area of foveal hypofluorescence surrounded by a homogeneous-appearing retina" "19y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261706" "04214" "00366368" "01695" "Unknown" "" "At the age of 33, the visual acuity in the right eye was not available and in the left eye was not available. Autofluorescence findings: not available" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261707" "04214" "00366369" "01695" "Unknown" "" "At the age of 25, the visual acuity in the right eye was 20/400 and in the left eye was 20/400. Autofluorescence findings: an area of foveal hypofluorescence surrounded by a homogeneous-appearing retina" "15y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261708" "04214" "00366370" "01695" "Unknown" "" "At the age of 26, the visual acuity in the right eye was 20/200 and in the left eye was 20/200. Autofluorescence findings: not available" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261709" "04214" "00366371" "01695" "Unknown" "" "At the age of 10, the BCVA was 20/125 (OD) and 20/200 (OS). 24 months later, the BCVA was 20/160 (OD) and 20/160 (OS)." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261710" "04214" "00366372" "01695" "Unknown" "" "At the age of 25, the BCVA was 20/100 (OD) and 20/100 (OS). 12 months later, the BCVA was 20/125 (OD) and 20/100 (OS)." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261711" "04214" "00366373" "01695" "Unknown" "" "At the age of 60, the BCVA was 20/32 (OD) and 20/20 (OS). 18 months later, the BCVA was 20/32 (OD) and 20/25 (OS)." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261712" "04214" "00366374" "01695" "Unknown" "" "At the age of 16, the BCVA was 20/125 (OD) and 20/160 (OS). 15 months later, the BCVA was 20/100 (OD) and 20/100 (OS)." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261713" "04214" "00366375" "01695" "Unknown" "" "At the age of 37, the BCVA was 20/60 (OD) and 20/125 (OS).; At the age of 38, the BCVA was 20/60 (OD) and 20/125 (OS). 32 months later, the BCVA was 20/125 (OD) and 20/125 (OS)." "30y6m" "" "diagnosis" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261714" "04214" "00366376" "01695" "Unknown" "" "At the age of 42, the BCVA was 20/25 (OD) and 20/32 (OS). 24 months later, the BCVA was 20/32 (OD) and 20/40 (OS)." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261715" "04214" "00366377" "01695" "Unknown" "" "At the age of 43, the BCVA was 20/63 (OD) and 20/32 (OS). 57 months later, the BCVA was 20/160 (OD) and 20/50 (OS)." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261716" "04214" "00366378" "01695" "Unknown" "" "At the age of 53, the BCVA was 20/160 (OD) and NA (OS). 14 months later, the BCVA was 20/125 (OD) and NA (OS)." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261717" "04214" "00366379" "01695" "Unknown" "" "At the age of 26, the BCVA was 20/80 (OD) and 20/80 (OS). 39 months later, the BCVA was 20/80 (OD) and 20/80 (OS)." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261718" "04214" "00366380" "01695" "Unknown" "" "At the age of 28, the BCVA was 20/25 (OD) and 20/32 (OS). 25 months later, the BCVA was 20/32 (OD) and 20/32 (OS)." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261719" "04214" "00366381" "01695" "Unknown" "" "At the age of 28, autofluorescence showed flecks limited to the posterior pole with foveal atrophy (stage 2 according to Zahid et al., 2012)." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261720" "04214" "00366382" "01695" "Unknown" "" "At the age of 10, autofluorescence showed flecks limited to the posterior pole with foveal atrophy (stage 2 according to Zahid et al., 2012)." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261721" "04214" "00366383" "01695" "Unknown" "" "At the age of 48, autofluorescence showed macular atrophy and diffuse flecks throughout the fundus (stage 3 according to Zahid et al., 2012)." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261722" "04214" "00366384" "01695" "Unknown" "" "At the age of 13, autofluorescence showed flecks limited to the posterior pole with foveal atrophy (stage 2 according to Zahid et al., 2012)." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261723" "04214" "00366385" "01695" "Unknown" "" "At the age of 62, autofluorescence showed macular atrophy and diffuse flecks throughout the fundus (stage 3 according to Zahid et al., 2012)." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261724" "04214" "00366386" "01695" "Unknown" "" "At the age of 36, autofluorescence showed flecks limited to the posterior pole with foveal atrophy (stage 2 according to Zahid et al., 2012)." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261725" "04214" "00366387" "01695" "Unknown" "" "At the age of 18, autofluorescence showed flecks limited to the posterior pole with foveal atrophy (stage 2 according to Zahid et al., 2012)." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261726" "04214" "00366388" "01695" "Unknown" "" "At the age of 17, autofluorescence showed flecks limited to the posterior pole with foveal atrophy (stage 2 according to Zahid et al., 2012)." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261727" "04214" "00366389" "01695" "Unknown" "" "At the age of 34, autofluorescence showed macular atrophy and diffuse flecks throughout the fundus (stage 3 according to Zahid et al., 2012)." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261728" "04214" "00366390" "01695" "Unknown" "" "At the age of 15, autofluorescence showed flecks were limited to the macula (stage 1 according to Zahid et al., 2012)." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261729" "04214" "00366391" "01695" "Unknown" "" "At the age of 51, autofluorescence showed flecks limited to the posterior pole with foveal atrophy (stage 2 according to Zahid et al., 2012)." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261730" "04214" "00366392" "01695" "Unknown" "" "At the age of 26, autofluorescence showed flecks were limited to the macula (stage 1 according to Zahid et al., 2012)." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261731" "04214" "00366393" "01695" "Unknown" "" "At the age of 22, autofluorescence showed macular atrophy and diffuse flecks throughout the fundus (stage 3 according to Zahid et al., 2012)." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261732" "04214" "00366394" "01695" "Unknown" "" "At the age of 59, autofluorescence showed flecks were limited to the macula (stage 1 according to Zahid et al., 2012)." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261733" "04214" "00366395" "01695" "Unknown" "" "At the age of 57, autofluorescence showed flecks limited to the posterior pole with foveal atrophy (stage 2 according to Zahid et al., 2012)." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261734" "04214" "00366396" "01695" "Unknown" "" "At the age of 18, autofluorescence showed flecks limited to the posterior pole with foveal atrophy (stage 2 according to Zahid et al., 2012)." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261735" "04214" "00366397" "01695" "Unknown" "" "At the age of 14, autofluorescence showed flecks limited to the posterior pole with foveal atrophy (stage 2 according to Zahid et al., 2012)." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261736" "04214" "00366398" "01695" "Unknown" "" "At the age of 45, autofluorescence showed macular atrophy and diffuse flecks throughout the fundus (stage 3 according to Zahid et al., 2012)." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261737" "04214" "00366399" "01695" "Unknown" "" "At the age of 47, autofluorescence showed flecks limited to the posterior pole with foveal atrophy (stage 2 according to Zahid et al., 2012)." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261738" "04214" "00366400" "01695" "Unknown" "" "At the age of 36, autofluorescence showed flecks limited to the posterior pole with foveal atrophy (stage 2 according to Zahid et al., 2012)." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261739" "04214" "00366401" "01695" "Unknown" "" "At the age of 19, autofluorescence showed flecks limited to the posterior pole with foveal atrophy (stage 2 according to Zahid et al., 2012)." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261740" "04214" "00366402" "01695" "Unknown" "" "At the age of 57, autofluorescence showed flecks limited to the posterior pole with foveal atrophy (stage 2 according to Zahid et al., 2012)." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261741" "04214" "00366403" "01695" "Unknown" "" "At the age of 38, autofluorescence showed flecks limited to the posterior pole with foveal atrophy (stage 2 according to Zahid et al., 2012)." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261742" "04214" "00366404" "01695" "Unknown" "" "At the age of 13, autofluorescence showed flecks limited to the posterior pole with foveal atrophy (stage 2 according to Zahid et al., 2012)." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261743" "04214" "00366405" "01695" "Unknown" "" "At the age of 17, autofluorescence showed flecks limited to the posterior pole with foveal atrophy (stage 2 according to Zahid et al., 2012)." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261744" "04214" "00366406" "01695" "Unknown" "" "At the age of 24, autofluorescence showed flecks limited to the posterior pole with foveal atrophy (stage 2 according to Zahid et al., 2012)." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261745" "04214" "00366407" "01695" "Unknown" "" "At the age of 23, autofluorescence showed macular atrophy and diffuse flecks throughout the fundus (stage 3 according to Zahid et al., 2012)." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261746" "04214" "00366408" "01695" "Unknown" "" "At the age of 41, autofluorescence showed macular atrophy and diffuse flecks throughout the fundus (stage 3 according to Zahid et al., 2012)." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261747" "04214" "00366409" "01695" "Unknown" "" "At the age of 47, autofluorescence showed flecks were limited to the macula (stage 1 according to Zahid et al., 2012)." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261748" "04214" "00366410" "01695" "Unknown" "" "At the age of 11, autofluorescence showed flecks limited to the posterior pole with foveal atrophy (stage 2 according to Zahid et al., 2012)." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261749" "04214" "00366411" "01695" "Unknown" "" "At the age of 9, autofluorescence showed flecks limited to the posterior pole with foveal atrophy (stage 2 according to Zahid et al., 2012)." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261750" "04214" "00366412" "01695" "Unknown" "" "At the age of 10, autofluorescence showed flecks limited to the posterior pole with foveal atrophy (stage 2 according to Zahid et al., 2012)." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261751" "04214" "00366413" "01695" "Unknown" "" "At the age of 15, autofluorescence showed flecks limited to the posterior pole with foveal atrophy (stage 2 according to Zahid et al., 2012)." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261752" "04214" "00366414" "01695" "Unknown" "" "At the age of 17, autofluorescence showed macular atrophy and diffuse flecks throughout the fundus (stage 3 according to Zahid et al., 2012)." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261753" "04214" "00366415" "01695" "Unknown" "" "At the age of 13, autofluorescence showed macular atrophy and diffuse flecks throughout the fundus (stage 3 according to Zahid et al., 2012)." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261754" "04214" "00366416" "01695" "Unknown" "" "The affected father (I:1) exhibited a normal anterior segment with transplant cornea and lens in each eye. Fundus photography and FFA exhibited peripheral retinal degeneration and brush?like peripheral vessels, which are considered typical signs of FEVR." "" "" "unknown" "" "" "" "" "" "" "FEVR" ""
"0000261755" "04214" "00366417" "01695" "Unknown" "" "peripheral pigmented retinal lesions" "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261756" "04214" "00366418" "01695" "Unknown" "" "peripheral pigmented retinal lesions" "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261757" "04214" "00366419" "01695" "Unknown" "" "peripheral pigmented retinal lesions" "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261758" "04214" "00366420" "01695" "Unknown" "" "peripheral pigmented retinal lesions" "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261759" "04214" "00366421" "01695" "Unknown" "" "peripheral pigmented retinal lesions" "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261760" "04214" "00366422" "01695" "Unknown" "" "peripheral pigmented retinal lesions" "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261761" "04214" "00366423" "01695" "Unknown" "" "peripheral pigmented retinal lesions" "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261762" "04214" "00366424" "01695" "Unknown" "" "peripheral pigmented retinal lesions" "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261763" "04214" "00366425" "01695" "Unknown" "" "peripheral pigmented retinal lesions" "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261764" "04214" "00366426" "01695" "Unknown" "" "peripheral pigmented retinal lesions" "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261765" "04214" "00366427" "01695" "Unknown" "" "peripheral pigmented retinal lesions" "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261766" "04214" "00366428" "01695" "Unknown" "" "peripheral pigmented retinal lesions" "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261767" "04214" "00366429" "01695" "Unknown" "" "peripheral pigmented retinal lesions" "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261768" "04214" "00366430" "01695" "Unknown" "" "peripheral pigmented retinal lesions" "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261769" "04214" "00366431" "01695" "Unknown" "" "peripheral pigmented retinal lesions" "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261770" "04214" "00366432" "01695" "Unknown" "" "peripheral pigmented retinal lesions" "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261771" "04214" "00366433" "01695" "Unknown" "" "peripheral pigmented retinal lesions" "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261772" "04214" "00366434" "01695" "Unknown" "" "peripheral pigmented retinal lesions" "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261773" "04214" "00366435" "01695" "Unknown" "" "peripheral pigmented retinal lesions" "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261774" "04214" "00366436" "01695" "Unknown" "" "peripheral pigmented retinal lesions" "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261775" "04214" "00366437" "01695" "Unknown" "" "peripheral pigmented retinal lesions" "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261776" "04214" "00366438" "01695" "Unknown" "" "peripheral pigmented retinal lesions" "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261777" "04214" "00366439" "01695" "Unknown" "" "peripheral pigmented retinal lesions" "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261778" "04214" "00366440" "01695" "Unknown" "" "peripheral pigmented retinal lesions" "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261779" "04214" "00366441" "01695" "Unknown" "" "peripheral pigmented retinal lesions" "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261780" "04214" "00366442" "01695" "Unknown" "" "peripheral pigmented retinal lesions" "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261781" "04214" "00366443" "01695" "Unknown" "" "peripheral pigmented retinal lesions" "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261782" "04214" "00366444" "01695" "Unknown" "" "peripheral pigmented retinal lesions" "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261783" "04214" "00366445" "01695" "Unknown" "" "peripheral pigmented retinal lesions" "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261784" "04214" "00366446" "01695" "Unknown" "" "peripheral pigmented retinal lesions" "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261785" "04214" "00366447" "01695" "Unknown" "" "peripheral pigmented retinal lesions" "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261786" "04214" "00366448" "01695" "Unknown" "" "peripheral pigmented retinal lesions" "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261787" "04214" "00366449" "01695" "Unknown" "" "peripheral pigmented retinal lesions" "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261788" "04214" "00366450" "01695" "Unknown" "" "At the age of 5 and 6 respectively, the VA (RE, LE) was 0.3, 0.26 and 0.22, 0.22 (logMAR). Funduscopy showed Abnormalfoveal reflex. More information on the phenotype is present in the paper." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261789" "04214" "00366451" "01695" "Unknown" "" "At the age of 5 and 6 respectively, the VA (RE, LE) was 0.24, 0.26 and 0.4, 0.3 (logMAR). Funduscopy showed Abnormalfoveal reflex. More information on the phenotype is present in the paper." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261790" "04214" "00366452" "01695" "Unknown" "" "At the age of 9 and 11 respectively, the VA (RE, LE) was 0.07, 0.07 and 0.98, 1.0 (logMAR). Funduscopy showed Widespread peripheralflecks and altered foveal reflex. More information on the phenotype is present in the paper." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261791" "04214" "00366453" "01695" "Unknown" "" "At the age of 13 and 14 respectively, the VA (RE, LE) was 0, 0.1 and 0.36, 0.36 (logMAR). Funduscopy showed Normal perifoveolar AF with. More information on the phenotype is present in the paper." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261792" "04214" "00366454" "01695" "Unknown" "" "At the age of 8 and 11 respectively, the VA (RE, LE) was 0.2, 0.2 and 0.24, 0.3 (logMAR). Funduscopy showed Abnormalfoveal reflex. More information on the phenotype is present in the paper." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261793" "04214" "00366455" "01695" "Unknown" "" "At the age of 11 , the VA (RE, LE) was 0.14 and 0.12 (logMAR). Funduscopy showed Subtle yellow-whitecentral macular dots. More information on the phenotype is present in the paper." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261794" "04214" "00366456" "01695" "Unknown" "" "At the age of 9 and 12 respectively, the VA (RE, LE) was 0.1, 0.15 and 0.5, 0.6 (logMAR). Funduscopy showed Normal (age 9)Yellow flecks outside the vascular arcades (age 12). More information on the phenotype is present in the paper." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261795" "04214" "00366457" "01695" "Unknown" "" "At the age of 41, the visual field showed: only small central scotomas within 10°" "29y" "" "first examination" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261796" "04214" "00366458" "01695" "Unknown" "" "At the age of 71, the visual field showed: only small central scotomas within 10°" "" "" "first examination" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261797" "04214" "00366459" "01695" "Unknown" "" "At the age of 27, the visual field showed: only small central scotomas within 10°" "20y" "" "first examination" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261798" "04214" "00366460" "01695" "Unknown" "" "At the age of 48, the visual field showed: only small central scotomas within 10°" "" "" "first examination" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261799" "04214" "00366461" "01695" "Unknown" "" "At the age of 45, the visual field showed: only small central scotomas within 10°" "21y" "" "first examination" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261800" "04214" "00366462" "01695" "Unknown" "" "At the age of 34, the visual field showed: only small central scotomas within 10°" "" "" "first examination" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261801" "04214" "00366463" "01695" "Unknown" "" "At the age of 38, the visual field showed: only small central scotomas within 10°" "30y" "" "first examination" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261802" "04214" "00366464" "01695" "Unknown" "" "At the age of 18, the visual field showed: only small central scotomas within 10°" "" "" "first examination" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261803" "04214" "00366465" "01695" "Unknown" "" "At the age of 32, the visual field showed: only small central scotomas within 10°" "29y" "" "first examination" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261804" "04214" "00366466" "01695" "Unknown" "" "At the age of 22, the visual field showed: only small central scotomas within 10°" "" "" "first examination" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261805" "04214" "00366467" "01695" "Unknown" "" "At the age of 35, the visual field showed: scotomas from 10° to 35°" "22y" "" "first examination" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261806" "04214" "00366468" "01695" "Unknown" "" "At the age of 10, the visual field showed: scotomas from 10° to 35°" "" "" "first examination" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261807" "04214" "00366469" "01695" "Unknown" "" "At the age of 23, the visual field showed: scotomas from 10° to 35°" "17y" "" "first examination" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000261808" "04214" "00366470" "01695" "Unknown" "" "At the age of 39, the visual field showed: scotomas from 10° to 35°" "" "" "first examination" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000261809" "04214" "00366471" "01695" "Unknown" "" "At the age of 29, the visual field showed: scotomas from 10° to 35°" "19y" "" "first examination" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000261810" "04214" "00366472" "01695" "Unknown" "" "At the age of 40, the visual field showed: scotomas from 10° to 35°" "32y" "" "first examination" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000261811" "04214" "00366473" "01695" "Unknown" "" "At the age of 41, the visual field showed: scotomas from 10° to 35°" "17y" "" "first examination" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261812" "04214" "00366474" "01695" "Unknown" "" "At the age of 40, the visual field showed: scotomas from 10° to 35°" "20y" "" "first examination" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261813" "04214" "00366475" "01695" "Unknown" "" "At the age of 27, the visual field showed: scotomas from 10° to 35°" "" "" "first examination" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000261814" "04214" "00366476" "01695" "Unknown" "" "At the age of 28, the visual field showed: scotomas from 10° to 35°" "18y" "" "first examination" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000261815" "04214" "00366477" "01695" "Unknown" "" "At the age of 27, the visual field showed: scotomas from 10° to 35°" "16y" "" "first examination" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261816" "04214" "00366478" "01695" "Unknown" "" "At the age of 16, the visual field showed: scotomas from 10° to 35°" "7y" "" "first examination" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000261817" "04214" "00366479" "01695" "Unknown" "" "At the age of 20, the visual field showed: scotomas from 10° to 35°" "13y" "" "first examination" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000261818" "04214" "00366480" "01695" "Unknown" "" "At the age of 16, the visual field showed: scotomas from 10° to 35°" "" "" "first examination" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261819" "04214" "00366481" "01695" "Unknown" "" "At the age of 31, the visual field showed: scotomas from 10° to 35°" "26y" "" "first examination" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261820" "04214" "00366482" "01695" "Unknown" "" "At the age of 25, the visual field showed: scotomas from 10° to 35°" "12y" "" "first examination" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261821" "04214" "00366483" "01695" "Unknown" "" "At the age of 22, the visual field showed: scotomas from 10° to 35°" "18y" "" "first examination" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261822" "04214" "00366484" "01695" "Unknown" "" "At the age of 24, the visual field showed: scotomas from 10° to 35°" "19y" "" "first examination" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000261823" "04214" "00366485" "01695" "Unknown" "" "At the age of 62, the visual field showed: scotomas from 10° to 35°" "" "" "first examination" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261824" "04214" "00366486" "01695" "Unknown" "" "At the age of 23, the visual field showed: widely aberrant visual fields with merely some peripheral temporal crescent-formed residuals left" "17y" "" "first examination" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000261825" "04214" "00366487" "01695" "Unknown" "" "At the age of 50, the visual field showed: widely aberrant visual fields with merely some peripheral temporal crescent-formed residuals left" "" "" "first examination" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000261826" "04214" "00366488" "01695" "Unknown" "" "At the age of 40, the visual field showed: widely aberrant visual fields with merely some peripheral temporal crescent-formed residuals left" "36y" "" "first examination" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000261827" "04214" "00366489" "01695" "Unknown" "" "At the age of 34, the visual field showed: widely aberrant visual fields with merely some peripheral temporal crescent-formed residuals left" "32y" "" "first examination" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000261828" "04214" "00366490" "01695" "Unknown" "" "At the age of 70, the visual field showed: widely aberrant visual fields with merely some peripheral temporal crescent-formed residuals left" "63y" "" "first examination" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000261829" "04214" "00366491" "01695" "Unknown" "" "At the age of 32, there was photophobia and nyctalopia. Best corrected visual acuity was 20/400. Fishman stage was 4." "4y" "" "central visual symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261830" "04214" "00366492" "01695" "Unknown" "" "At the age of 26, there was photophobia and nyctalopia. Best corrected visual acuity was 20/200. Fishman stage was 4." "15y" "" "central visual symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261831" "04214" "00366493" "01695" "Unknown" "" "At the age of 27, there was photophobia and nyctalopia. Best corrected visual acuity was 20/400. Fishman stage was 4." "9y" "" "central visual symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261832" "04214" "00366494" "01695" "Unknown" "" "At the age of 16, there was photophobia and no nyctalopia. Best corrected visual acuity was 20/400–20/200. Fishman stage was 3." "8y" "" "central visual symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261833" "04214" "00366495" "01695" "Unknown" "" "At the age of 29, there was photophobia and no nyctalopia. Best corrected visual acuity was 4/200–20/300. Fishman stage was 4." "8y" "" "central visual symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261834" "04214" "00366496" "01695" "Unknown" "" "At the age of 30, there was photophobia and nyctalopia. Best corrected visual acuity was 20/300–20/200. Fishman stage was 4." "7y" "" "central visual symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261835" "04214" "00366497" "01695" "Unknown" "" "At the age of 32, there was no photophobia and there was nyctalopia. Best corrected visual acuity was 20/300. Fishman stage was 4." "13y" "" "central visual symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261836" "04214" "00366498" "01695" "Unknown" "" "At the age of 9, there was no photophobia and there was nyctalopia. Best corrected visual acuity was 20/200. Fishman stage was 2." "7y" "" "central visual symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261837" "04214" "00366499" "01695" "Unknown" "" "At the age of 19, there was photophobia and nyctalopia. Best corrected visual acuity was 20/300. Fishman stage was 3." "7y" "" "central visual symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261838" "04214" "00366500" "01695" "Unknown" "" "At the age of 13, there was photophobia and nyctalopia. Best corrected visual acuity was 20/200. Fishman stage was 3." "8y" "" "central visual symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261839" "04214" "00366501" "01695" "Unknown" "" "A pale fundus, optic nerve atrophy, vessel attenuation, and retinal pigment epithelial degeneration. VA: LP/HM (RE, LE)" "15y" "" "decreased vision, needs for more light" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000261840" "04214" "00366502" "01695" "Unknown" "" "Bone spicule-like pigmentation, retinal vascular attenuation, and macular pigment alterations. VA: LP?HM (RE, LE)" "15y" "" "decreased vision, needs for more light" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000261841" "04214" "00366503" "01695" "Unknown" "" "Optic nerve atrophy, vessel attenuation, and retinal pigment epithelial degeneration. VA: (HM/HM (RE, LE)" "16y" "" "decreased vision, needs for more light" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000261842" "04214" "00366504" "01695" "Familial, autosomal recessive" "" "During preoperative evaluation for cataract surgery, she was found to have cystoid macula edema and was referred to our institution for further workup. On presentation, she reported gradually decreasing vision in both eyes, floaters, and photopsias but no photophobia or hearing problems. Her examination was notable for a BCVA of 20/400 in both eyes, sluggish left pupil but no afferent pupillary defect in either eye, and 2+ posterior subcapsular cataracts in both eyes." "8y" "" "clinal diagnosis" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261843" "04214" "00366505" "01695" "Unknown" "" "At the age of 19, the BCVA was 1/0.9 logMAR (RE/LE). Fishman group (RE/LE) was: 2 (numerous yellowish-white fundus lesions throughout the posterior pole)/2 (numerous yellowish-white fundus lesions throughout the posterior pole)" "11y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261844" "04214" "00366506" "01695" "Unknown" "" "At the age of 18, the BCVA was 0.7/0.7 logMAR (RE/LE). Fishman group (RE/LE) was: 1 (a small atrophic-appearing foveal lesion and localized perifoveal yellowish-white flecks)/1 (a small atrophic-appearing foveal lesion and localized perifoveal yellowish-white flecks)" "14y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261845" "04214" "00366507" "01695" "Unknown" "" "At the age of 25, the BCVA was 0.6/0.6 logMAR (RE/LE). Fishman group (RE/LE) was: 1 (a small atrophic-appearing foveal lesion and localized perifoveal yellowish-white flecks)/1 (a small atrophic-appearing foveal lesion and localized perifoveal yellowish-white flecks)" "17y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261846" "04214" "00366508" "01695" "Unknown" "" "At the age of 15, the BCVA was 0.9/1 logMAR (RE/LE). Fishman group (RE/LE) was: 1 (a small atrophic-appearing foveal lesion and localized perifoveal yellowish-white flecks)/1 (a small atrophic-appearing foveal lesion and localized perifoveal yellowish-white flecks)" "13y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261847" "04214" "00366509" "01695" "Unknown" "" "At the age of 29, the BCVA was 0.8/0.9 logMAR (RE/LE). Fishman group (RE/LE) was: 1 (a small atrophic-appearing foveal lesion and localized perifoveal yellowish-white flecks)/1 (a small atrophic-appearing foveal lesion and localized perifoveal yellowish-white flecks)" "25y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261848" "04214" "00366510" "01695" "Unknown" "" "At the age of 23, the BCVA was 0.8/0.7 logMAR (RE/LE). Fishman group (RE/LE) was: 2 (numerous yellowish-white fundus lesions throughout the posterior pole)/2 (numerous yellowish-white fundus lesions throughout the posterior pole)" "14y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261849" "04214" "00366511" "01695" "Unknown" "" "At the age of 33, the BCVA was 0.7/0.7 logMAR (RE/LE). Fishman group (RE/LE) was: 1 (a small atrophic-appearing foveal lesion and localized perifoveal yellowish-white flecks)/1 (a small atrophic-appearing foveal lesion and localized perifoveal yellowish-white flecks)" "18y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261850" "04214" "00366512" "01695" "Unknown" "" "At the age of 25, the BCVA was 0.8/1 logMAR (RE/LE). Fishman group (RE/LE) was: 2 (numerous yellowish-white fundus lesions throughout the posterior pole)/2 (numerous yellowish-white fundus lesions throughout the posterior pole)" "18y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261851" "04214" "00366513" "01695" "Unknown" "" "At the age of 27, the BCVA was 0.9/0.9 logMAR (RE/LE). Fishman group (RE/LE) was: 1 (a small atrophic-appearing foveal lesion and localized perifoveal yellowish-white flecks)/1 (a small atrophic-appearing foveal lesion and localized perifoveal yellowish-white flecks)" "11y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261852" "04214" "00366514" "01695" "Unknown" "" "At the age of 49, the BCVA was 1./1 logMAR (RE/LE). Fishman group (RE/LE) was: 3 (extensive atrophic-appearing RPE changes)/3 (extensive atrophic-appearing RPE changes)" "18y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261853" "04214" "00366515" "01695" "Unknown" "" "At the age of 20, the BCVA was 0/0 logMAR (RE/LE). Fishman group (RE/LE) was: 1 (a small atrophic-appearing foveal lesion and localized perifoveal yellowish-white flecks)/1 (a small atrophic-appearing foveal lesion and localized perifoveal yellowish-white flecks)" "19y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261854" "04214" "00366516" "01695" "Unknown" "" "At the age of 37, the BCVA was 0.4/0.1 logMAR (RE/LE). Fishman group (RE/LE) was: 1 (a small atrophic-appearing foveal lesion and localized perifoveal yellowish-white flecks)/1 (a small atrophic-appearing foveal lesion and localized perifoveal yellowish-white flecks)" "34y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261855" "04214" "00366517" "01695" "Unknown" "" "At the age of 18, the BCVA was 1/0.8 logMAR (RE/LE). Fishman group (RE/LE) was: 2 (numerous yellowish-white fundus lesions throughout the posterior pole)/2 (numerous yellowish-white fundus lesions throughout the posterior pole)" "10y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261856" "04214" "00366518" "01695" "Unknown" "" "At the age of 19, the BCVA was 0.9/0.9 logMAR (RE/LE). Fishman group (RE/LE) was: 1 (a small atrophic-appearing foveal lesion and localized perifoveal yellowish-white flecks)/1 (a small atrophic-appearing foveal lesion and localized perifoveal yellowish-white flecks)" "13y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261857" "04214" "00366519" "01695" "Unknown" "" "At the age of 32, the BCVA was 0.2/0.2 logMAR (RE/LE). Fishman group (RE/LE) was: 2 (numerous yellowish-white fundus lesions throughout the posterior pole)/2 (numerous yellowish-white fundus lesions throughout the posterior pole)" "28y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261869" "04214" "00366531" "01695" "Familial, autosomal recessive" "" "Patients III3 and III6 with STGD-FFM phenotype 2, associating macular atrophy, yellow-white dots, hyperfluorescent atrophic spots, and silent choroid, developed diffuse macular, peripapillary, and RPE atrophy extending beyond the vascular arcades. The yellow-white dots in the midperiphery regressed to be replaced by numerous atrophic dots. Full-field ERG showed both altered photopic and scotopic responses." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261870" "04214" "00366532" "01695" "Familial, autosomal recessive" "" "Patients III3 and III6 with STGD-FFM phenotype 2, associating macular atrophy, yellow-white dots, hyperfluorescent atrophic spots, and silent choroid, developed diffuse macular, peripapillary, and RPE atrophy extending beyond the vascular arcades. The yellow-white dots in the midperiphery regressed to be replaced by numerous atrophic dots. Full-field ERG showed both altered photopic and scotopic responses." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261871" "04214" "00366533" "01695" "Familial, autosomal recessive" "" "Patient III7, who originally presented with phenotype 1, developed after 9 years a large central area of pronounced chorioretinal atrophy in both eyes, with yellow-white dots distributed at the posterior pole and midperiphery. The peripapillary area was normal. Visual acuity fell from 20/200 to 20/400. Full-field ERG showed both altered photopic and scotopic responses." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261872" "04214" "00366534" "01695" "Familial, autosomal recessive" "" "patients III8 and III10 presented initial phenotype 4 STGD (Stargardt fundus flavimaculatus, later age of onset) with central atrophy, yellow-white dots, macular atrophy, hyperfluorescent atrophic spots, and silent choroid. After 9-year progression of the disease, both presented CRD with diffuse macular, peripapillary, and peripheral RPE atrophy, regression of the yellow-white dots, and hyperfluorescent dots. Full-field ERG showed severe altered photopic and scotopic responses." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261873" "04214" "00366535" "01695" "Familial, autosomal recessive" "" "patients III8 and III10 presented initial phenotype 4 STGD (Stargardt fundus flavimaculatus, later age of onset) with central atrophy, yellow-white dots, macular atrophy, hyperfluorescent atrophic spots, and silent choroid. After 9-year progression of the disease, both presented CRD with diffuse macular, peripapillary, and peripheral RPE atrophy, regression of the yellow-white dots, and hyperfluorescent dots. Full-field ERG showed severe altered photopic and scotopic responses." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261874" "04214" "00366536" "01695" "Unknown" "" "Fundus autofluorescence (FAF) showed angioid streaks but also a reduced signal in the central macula indicative of retinal pigment epithelium atrophy. Severe macular dysfunction and generalised retinal involvement were shown on electrophysiological testing." "24y" "" "reduced central vision" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261875" "04214" "00366537" "01695" "Unknown" "" "photophobia, decreased visual acuity, and color vision defects" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000261876" "04214" "00366538" "01695" "Unknown" "" "At the age of 22, the visual acuity was 20/30. Fishman classificaiton was: parafoveal or perifoveal flecks, pigmentary changes in the macula, and normal ERG." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261877" "04214" "00366539" "01695" "Unknown" "" "At the age of 28, the visual acuity was 20/200. Fishman classificaiton was: diffusely resorbed flecks, choriocapillaris atrophy in the macula, reduced cone or cone and rod ERG, and central and peripheral field impairment." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261878" "04214" "00366540" "01695" "Unknown" "" "At the age of 30, the visual acuity was 20/30. Fishman classificaiton was: flecks throughout the posterior pole, anterior to the vascular arcades and nasal to the optic disc and relatively normal ERG but with prolonged dark adaptation." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261879" "04214" "00366541" "01695" "Unknown" "" "At the age of 11, the visual acuity was 20/200. Fishman classificaiton was: diffusely resorbed flecks, choriocapillaris atrophy in the macula, reduced cone or cone and rod ERG, and central and peripheral field impairment." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261880" "04214" "00366542" "01695" "Unknown" "" "At the age of 55, the visual acuity was 20/40. Fishman classificaiton was: diffusely resorbed flecks, choriocapillaris atrophy in the macula, reduced cone or cone and rod ERG, and central and peripheral field impairment." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261881" "04214" "00366543" "01695" "Unknown" "" "At the age of 13, the visual acuity was 20/200. Fishman classificaiton was: extensive choroid and RPE atrophy throughout the fundus, decreased ERG cone and rod amplitudes, and moderate to severe peripheral field restriction." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261882" "04214" "00366544" "01695" "Unknown" "" "At the age of 30, the visual acuity was 20/160. Fishman classificaiton was: extensive choroid and RPE atrophy throughout the fundus, decreased ERG cone and rod amplitudes, and moderate to severe peripheral field restriction." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261883" "04214" "00366545" "01695" "Unknown" "" "At the age of 36, the visual acuity was 20/200. Fishman classificaiton was: extensive choroid and RPE atrophy throughout the fundus, decreased ERG cone and rod amplitudes, and moderate to severe peripheral field restriction." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261884" "04214" "00366546" "01695" "Unknown" "" "At the age of 45, the visual acuity was 20/400. Fishman classificaiton was: extensive choroid and RPE atrophy throughout the fundus, decreased ERG cone and rod amplitudes, and moderate to severe peripheral field restriction." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261885" "04214" "00366547" "01695" "Unknown" "" "At the age of 63, the visual acuity was 20/400. Fishman classificaiton was: diffusely resorbed flecks, choriocapillaris atrophy in the macula, reduced cone or cone and rod ERG, and central and peripheral field impairment." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261886" "04214" "00366548" "01695" "Unknown" "" "At the age of 14.3, BCVA was0.7 logMAR (OD) and 1logMAR (OS)." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261887" "04214" "00366549" "01695" "Unknown" "" "At the age of 8.3, BCVA was0.5 logMAR (OD) and 0.6logMAR (OS)." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261888" "04214" "00366550" "01695" "Unknown" "" "At the age of 12.9, BCVA was0.9 logMAR (OD) and 0.9logMAR (OS)." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261889" "04214" "00366551" "01695" "Unknown" "" "At the age of 17.2, BCVA was0.1 logMAR (OD) and 0.1logMAR (OS)." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261890" "04214" "00366552" "01695" "Unknown" "" "At the age of 17.7, BCVA was0.7 logMAR (OD) and 0.7logMAR (OS)." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261891" "04214" "00366553" "01695" "Unknown" "" "At the age of 18.5, BCVA was0.8 logMAR (OD) and 0.9logMAR (OS)." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261892" "04214" "00366554" "01695" "Unknown" "" "At the age of 21.6, BCVA was0.7 logMAR (OD) and 0.7logMAR (OS)." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261893" "04214" "00366555" "01695" "Unknown" "" "At the age of 22.6, BCVA was0.3 logMAR (OD) and 0.2logMAR (OS)." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261894" "04214" "00366556" "01695" "Unknown" "" "At the age of 24.5, BCVA was0.9 logMAR (OD) and 0.4logMAR (OS)." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261895" "04214" "00366557" "01695" "Unknown" "" "At the age of 25.9, BCVA was0.7 logMAR (OD) and 0.7logMAR (OS)." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261896" "04214" "00366558" "01695" "Unknown" "" "At the age of 26.8, BCVA was1.17 logMAR (OD) and 1.17logMAR (OS)." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261897" "04214" "00366559" "01695" "Unknown" "" "At the age of 27.8, BCVA was0.7 logMAR (OD) and 0.6logMAR (OS)." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261898" "04214" "00366560" "01695" "Unknown" "" "At the age of 29.9, BCVA was0.9 logMAR (OD) and 0.9logMAR (OS)." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261899" "04214" "00366561" "01695" "Unknown" "" "At the age of 31.6, BCVA wasArab logMAR (OD) and 0.1logMAR (OS)." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261900" "04214" "00366562" "01695" "Unknown" "" "At the age of 36.3, BCVA was0.7 logMAR (OD) and 0.1logMAR (OS)." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261901" "04214" "00366563" "01695" "Unknown" "" "At the age of 45, BCVA was0.4 logMAR (OD) and 0.4logMAR (OS)." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261902" "04214" "00366564" "01695" "Unknown" "" "At the age of 46.6, BCVA was0.3 logMAR (OD) and 0.6logMAR (OS)." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261903" "04214" "00366565" "01695" "Unknown" "" "At the age of 50.7, BCVA was0.4 logMAR (OD) and 0.4logMAR (OS)." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261904" "04214" "00366566" "01695" "Unknown" "" "At the age of 51.5, BCVA was0.1 logMAR (OD) and 0.1logMAR (OS)." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261905" "04214" "00366567" "01695" "Unknown" "" "At the age of 45.8, BCVA was0.17 logMAR (OD) and 0.17logMAR (OS)." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261906" "04214" "00366568" "01695" "Unknown" "" "At the age of 21.9, BCVA was0.1 logMAR (OD) and 0.1logMAR (OS)." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261907" "04214" "00366569" "01695" "Unknown" "" "At the age of 25.4, BCVA was0.7 logMAR (OD) and 0.7logMAR (OS)." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261908" "04214" "00366570" "01695" "Unknown" "" "At the age of 15.2, BCVA was0 logMAR (OD) and 0.1logMAR (OS)." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261909" "04214" "00366571" "01695" "Unknown" "" "At the age of 11.4, BCVA was1 logMAR (OD) and 1.3logMAR (OS)." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261910" "04214" "00366572" "01695" "Unknown" "" "At the age of 13.5, BCVA was1 logMAR (OD) and 0.3logMAR (OS)." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261911" "04214" "00366573" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261912" "04214" "00366574" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261913" "04214" "00366575" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261914" "04214" "00366576" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261915" "04214" "00366577" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261916" "04214" "00366578" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261917" "04214" "00366579" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261918" "04214" "00366580" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261919" "04214" "00366581" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261920" "04214" "00366582" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261921" "04214" "00366583" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261922" "04214" "00366584" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261923" "04214" "00366585" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261924" "04214" "00366586" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261925" "04214" "00366587" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261926" "04214" "00366588" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261927" "04214" "00366589" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261928" "04214" "00366590" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261929" "04214" "00366591" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261930" "04214" "00366592" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261931" "04214" "00366593" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261932" "04214" "00366594" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261933" "04214" "00366595" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261934" "04214" "00366596" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261935" "04214" "00366597" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261936" "04214" "00366598" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261937" "04214" "00366599" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261938" "04214" "00366600" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261939" "04214" "00366601" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261940" "04214" "00366602" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261941" "04214" "00366603" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261942" "04214" "00366604" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261943" "04214" "00366605" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261944" "04214" "00366606" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261945" "04214" "00366607" "01695" "Unknown" "" "" "52y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261946" "04214" "00366608" "01695" "Unknown" "" "" "14y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261947" "04214" "00366609" "01695" "Unknown" "" "" "15y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261948" "04214" "00366610" "01695" "Unknown" "" "" "11y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261949" "04214" "00366611" "01695" "Unknown" "" "" "6y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261950" "04214" "00366612" "01695" "Unknown" "" "" "7y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261951" "04214" "00366613" "01695" "Unknown" "" "" "7y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261952" "04214" "00366614" "01695" "Unknown" "" "" "17y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261953" "04214" "00366615" "01695" "Unknown" "" "" "" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261954" "04214" "00366616" "01695" "Unknown" "" "" "" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261955" "04214" "00366617" "01695" "Unknown" "" "" "" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261956" "04214" "00366618" "01695" "Unknown" "" "" "" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261957" "04214" "00366619" "01695" "Unknown" "" "" "" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261958" "04214" "00366620" "01695" "Unknown" "" "" "" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261959" "04214" "00366621" "01695" "Unknown" "" "" "" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261960" "04214" "00366622" "01695" "Unknown" "" "" "" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261961" "04214" "00366623" "01695" "Unknown" "" "" "" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261962" "04214" "00366624" "01695" "Unknown" "" "" "" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261963" "04214" "00366625" "01695" "Unknown" "" "" "" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261964" "04214" "00366626" "01695" "Unknown" "" "" "" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261965" "04214" "00366627" "01695" "Unknown" "" "" "" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261966" "04214" "00366628" "01695" "Unknown" "" "" "" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261967" "04214" "00366629" "01695" "Unknown" "" "" "" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261968" "04214" "00366630" "01695" "Unknown" "" "" "" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261969" "04214" "00366631" "01695" "Unknown" "" "" "" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261970" "04214" "00366632" "01695" "Unknown" "" "" "" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261971" "04214" "00366633" "01695" "Unknown" "" "" "" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261972" "04214" "00366634" "01695" "Unknown" "" "" "" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261973" "04214" "00366635" "01695" "Unknown" "" "" "" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261974" "04214" "00366636" "01695" "Unknown" "" "" "" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261975" "04214" "00366637" "01695" "Unknown" "" "" "" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261976" "04214" "00366638" "01695" "Unknown" "" "" "" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261977" "04214" "00366639" "01695" "Unknown" "" "" "" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261978" "04214" "00366640" "01695" "Unknown" "" "" "" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261979" "04214" "00366641" "01695" "Unknown" "" "" "" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261980" "04214" "00366642" "01695" "Unknown" "" "" "" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261981" "04214" "00366643" "01695" "Unknown" "" "" "" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261982" "04214" "00366644" "01695" "Unknown" "" "" "" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261983" "04214" "00366645" "01695" "Unknown" "" "" "" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261984" "04214" "00366646" "01695" "Unknown" "" "" "" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261985" "04214" "00366647" "01695" "Unknown" "" "" "" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261986" "04214" "00366648" "01695" "Unknown" "" "" "" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261987" "04214" "00366649" "01695" "Unknown" "" "" "" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261988" "04214" "00366650" "01695" "Unknown" "" "" "" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261989" "04214" "00366651" "01695" "Unknown" "" "" "" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261990" "04214" "00366652" "01695" "Unknown" "" "" "" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261991" "04214" "00366653" "01695" "Unknown" "" "" "" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261992" "04214" "00366654" "01695" "Unknown" "" "" "" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261993" "04214" "00366655" "01695" "Unknown" "" "" "" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261994" "04214" "00366656" "01695" "Unknown" "" "" "" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261995" "04214" "00366657" "01695" "Unknown" "" "" "" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261996" "04214" "00366658" "01695" "Unknown" "" "" "" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261997" "04214" "00366659" "01695" "Unknown" "" "" "" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261998" "04214" "00366660" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000261999" "04214" "00366661" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262000" "04214" "00366662" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262001" "04214" "00366663" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262002" "04214" "00366664" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262003" "04214" "00366665" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262004" "04214" "00366666" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262005" "04214" "00366667" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262006" "04214" "00366668" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262007" "04214" "00366669" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262008" "04214" "00366670" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262009" "04214" "00366671" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262010" "04214" "00366672" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262011" "04214" "00366673" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262012" "04214" "00366674" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262013" "04214" "00366675" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262014" "04214" "00366676" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262015" "04214" "00366677" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262016" "04214" "00366678" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262017" "04214" "00366679" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262018" "04214" "00366680" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262019" "04214" "00366681" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262020" "04214" "00366682" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262021" "04214" "00366683" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262022" "04214" "00366684" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262023" "04214" "00366685" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262024" "04214" "00366686" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262025" "04214" "00366687" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262026" "04214" "00366688" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262027" "04214" "00366689" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262028" "04214" "00366690" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262029" "04214" "00366691" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262030" "04214" "00366692" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262031" "04214" "00366693" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262032" "04214" "00366694" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262033" "04214" "00366695" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262034" "04214" "00366696" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262035" "04214" "00366697" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262036" "04214" "00366698" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262037" "04214" "00366699" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262038" "04214" "00366700" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262039" "04214" "00366701" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262040" "04214" "00366702" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262041" "04214" "00366703" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262042" "04214" "00366704" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262043" "04214" "00366705" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262044" "04214" "00366706" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262045" "04214" "00366707" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262046" "04214" "00366708" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262047" "04214" "00366709" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262048" "04214" "00366710" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262049" "04214" "00366711" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262050" "04214" "00366712" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262051" "04214" "00366713" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262052" "04214" "00366714" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262053" "04214" "00366715" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262054" "04214" "00366716" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262055" "04214" "00366717" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262056" "04214" "00366718" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262057" "04214" "00366719" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262058" "04214" "00366720" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262059" "04214" "00366721" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262060" "04214" "00366722" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262061" "04214" "00366723" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262062" "04214" "00366724" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262063" "04214" "00366725" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262064" "04214" "00366726" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262065" "04214" "00366727" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262066" "04214" "00366728" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262067" "04214" "00366729" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262068" "04214" "00366730" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262069" "04214" "00366731" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262070" "04214" "00366732" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262071" "04214" "00366733" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262072" "04214" "00366734" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262073" "04214" "00366735" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262074" "04214" "00366736" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262075" "04214" "00366737" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262076" "04214" "00366738" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262077" "04214" "00366739" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262078" "04214" "00366740" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262079" "04214" "00366741" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262080" "04214" "00366742" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262081" "04214" "00366743" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262082" "04214" "00366744" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262083" "04214" "00366745" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262084" "04214" "00366746" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262085" "04214" "00366747" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262086" "04214" "00366748" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262087" "04214" "00366749" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262088" "04214" "00366750" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262089" "04214" "00366751" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262090" "04214" "00366752" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262091" "04214" "00366753" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262092" "04214" "00366754" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262093" "04214" "00366755" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262094" "04214" "00366756" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262095" "04214" "00366757" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262096" "04214" "00366758" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262097" "04214" "00366759" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262098" "04214" "00366760" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262099" "04214" "00366761" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262100" "04214" "00366762" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262101" "04214" "00366763" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262102" "04214" "00366764" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262103" "04214" "00366765" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262104" "04214" "00366766" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262105" "04214" "00366767" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262106" "04214" "00366768" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262107" "04214" "00366769" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262108" "04214" "00366770" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262109" "04214" "00366771" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262110" "04214" "00366772" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262111" "04214" "00366773" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262112" "04214" "00366774" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262113" "04214" "00366775" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262114" "04214" "00366776" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262115" "04214" "00366777" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262116" "04214" "00366778" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262117" "04214" "00366779" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262118" "04214" "00366780" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262119" "04214" "00366781" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262120" "04214" "00366782" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262121" "04214" "00366783" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262122" "04214" "00366784" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262123" "04214" "00366785" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262124" "04214" "00366786" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262125" "04214" "00366787" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262126" "04214" "00366788" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262127" "04214" "00366789" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262128" "04214" "00366790" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262129" "04214" "00366791" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262130" "04214" "00366792" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262131" "04214" "00366793" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262132" "04214" "00366794" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262133" "04214" "00366795" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262134" "04214" "00366796" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262135" "04214" "00366797" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262136" "04214" "00366798" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262137" "04214" "00366799" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262138" "04214" "00366800" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262139" "04214" "00366801" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262140" "04214" "00366802" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262141" "04214" "00366803" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262142" "04214" "00366804" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262143" "04214" "00366805" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262144" "04214" "00366806" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262145" "04214" "00366807" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262146" "04214" "00366808" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262147" "04214" "00366809" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262148" "04214" "00366810" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262149" "04214" "00366811" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262150" "04214" "00366812" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262151" "04214" "00366813" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262152" "04214" "00366814" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262153" "04214" "00366815" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262154" "04214" "00366816" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262155" "04214" "00366817" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262156" "04214" "00366818" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262157" "04214" "00366819" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262158" "04214" "00366820" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262159" "04214" "00366821" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262160" "04214" "00366822" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262161" "04214" "00366823" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262162" "04214" "00366824" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262163" "04214" "00366825" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262164" "04214" "00366826" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262165" "04214" "00366827" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262166" "04214" "00366828" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262167" "04214" "00366829" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262168" "04214" "00366830" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262169" "04214" "00366831" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262170" "04214" "00366832" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262171" "04214" "00366833" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262172" "04214" "00366834" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262173" "04214" "00366835" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262174" "04214" "00366836" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262175" "04214" "00366837" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262176" "04214" "00366838" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262177" "04214" "00366839" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262178" "04214" "00366840" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262179" "04214" "00366841" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262180" "04214" "00366842" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262181" "04214" "00366843" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262182" "04214" "00366844" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262183" "04214" "00366845" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262184" "04214" "00366846" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262185" "04214" "00366847" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262186" "04214" "00366848" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262187" "04214" "00366849" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262188" "04214" "00366850" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262189" "04214" "00366851" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262190" "04214" "00366852" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262191" "04214" "00366853" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262192" "04214" "00366854" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262193" "04214" "00366855" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262194" "04214" "00366856" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262195" "04214" "00366857" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262196" "04214" "00366858" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262197" "04214" "00366859" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262198" "04214" "00366860" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262199" "04214" "00366861" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262200" "04214" "00366862" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262201" "04214" "00366863" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262202" "04214" "00366864" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262203" "04214" "00366865" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262204" "04214" "00366866" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262205" "04214" "00366867" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262206" "04214" "00366868" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262207" "04214" "00366869" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262208" "04214" "00366870" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262209" "04214" "00366871" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262210" "04214" "00366872" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262211" "04214" "00366873" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262212" "04214" "00366874" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262213" "04214" "00366875" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262214" "04214" "00366876" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262215" "04214" "00366877" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262216" "04214" "00366878" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262217" "04214" "00366879" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262218" "04214" "00366880" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262219" "04214" "00366881" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262220" "04214" "00366882" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262221" "04214" "00366883" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262222" "04214" "00366884" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262223" "04214" "00366885" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262224" "04214" "00366886" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262225" "04214" "00366887" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262226" "04214" "00366888" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262227" "04214" "00366889" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262228" "04214" "00366890" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262229" "04214" "00366891" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262230" "04214" "00366892" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262231" "04214" "00366893" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262232" "04214" "00366894" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262233" "04214" "00366895" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262234" "04214" "00366896" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262235" "04214" "00366897" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262236" "04214" "00366898" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262237" "04214" "00366899" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262238" "04214" "00366900" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262239" "04214" "00366901" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262240" "04214" "00366902" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262241" "04214" "00366903" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262242" "04214" "00366904" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262243" "04214" "00366905" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262244" "04214" "00366906" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262245" "04214" "00366907" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262246" "04214" "00366908" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262247" "04214" "00366909" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262248" "04214" "00366910" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262249" "04214" "00366911" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262250" "04214" "00366912" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262251" "04214" "00366913" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262252" "04214" "00366914" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262253" "04214" "00366915" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262254" "04214" "00366916" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262255" "04214" "00366917" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262256" "04214" "00366918" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262257" "04214" "00366919" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262258" "04214" "00366920" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262259" "04214" "00366921" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262260" "04214" "00366922" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262261" "04214" "00366923" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262262" "04214" "00366924" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262263" "04214" "00366925" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262264" "04214" "00366926" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262265" "04214" "00366927" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262266" "04214" "00366928" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262267" "04214" "00366929" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262268" "04214" "00366930" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262269" "04214" "00366931" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262270" "04214" "00366932" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262271" "04214" "00366933" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262272" "04214" "00366934" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262273" "04214" "00366935" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262274" "04214" "00366936" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262275" "04214" "00366937" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262276" "04214" "00366938" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262277" "04214" "00366939" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262278" "04214" "00366940" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262279" "04214" "00366941" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262280" "04214" "00366942" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262281" "04214" "00366943" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262282" "04214" "00366944" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262283" "04214" "00366945" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262284" "04214" "00366946" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262285" "04214" "00366947" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262286" "04214" "00366948" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262287" "04214" "00366949" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262288" "04214" "00366950" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262289" "04214" "00366951" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262290" "04214" "00366952" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262291" "04214" "00366953" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262292" "04214" "00366954" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262293" "04214" "00366955" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262294" "04214" "00366956" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262295" "04214" "00366957" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262296" "04214" "00366958" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262297" "04214" "00366959" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262298" "04214" "00366960" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262299" "04214" "00366961" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262300" "04214" "00366962" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262301" "04214" "00366963" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262302" "04214" "00366964" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262303" "04214" "00366965" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262304" "04214" "00366966" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262305" "04214" "00366967" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262306" "04214" "00366968" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262307" "04214" "00366969" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262308" "04214" "00366970" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262309" "04214" "00366971" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262310" "04214" "00366972" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262311" "04214" "00366973" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262312" "04214" "00366974" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262313" "04214" "00366975" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262314" "04214" "00366976" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262315" "04214" "00366977" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262316" "04214" "00366978" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262317" "04214" "00366979" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262318" "04214" "00366980" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262319" "04214" "00366981" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262320" "04214" "00366982" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262321" "04214" "00366983" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262322" "04214" "00366984" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262323" "04214" "00366985" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262324" "04214" "00366986" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262325" "04214" "00366987" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262326" "04214" "00366988" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262327" "04214" "00366989" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262328" "04214" "00366990" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262329" "04214" "00366991" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262330" "04214" "00366992" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262331" "04214" "00366993" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262332" "04214" "00366994" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262333" "04214" "00366995" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262334" "04214" "00366996" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262335" "04214" "00366997" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262336" "04214" "00366998" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262337" "04214" "00366999" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262338" "04214" "00367000" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262339" "04214" "00367001" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262340" "04214" "00367002" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262341" "04214" "00367003" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262342" "04214" "00367004" "01695" "Unknown" "" "At the age of 60, the visual acuity was CF (RE) and 20/400 (LE). Extensive chorioretinal atrophy and pigmentary changes in macula with yellow-gray pisciform flecks throughout posterior pole and midperiphery. Additionally, temporal and inferior peripheral in RE chorioretinal scars of Coats-like lesions and laser therapy." "19y" "" "initial symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262343" "04214" "00367005" "01695" "Unknown" "" "At the age of 49, the visual acuity was 20/20 (RE) and 20/20 (LE). Yellow-white pisciform flecks throughout the posterior pole and midperiphery with parafoveal chorioretinal atrophy in the left eye with foveal sparing" "41y" "" "initial symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262344" "04214" "00367006" "01695" "Unknown" "" "At the age of 55, the visual acuity was 20/50 (RE) and 20/20 (LE). Yellow-white pisciform flecks throughout the posterior pole and extensive chorioretinal atrophy with foveal sparing" "" "45y" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262345" "04214" "00367007" "01695" "Unknown" "" "At the age of 68, the visual acuity was CF (RE) and 20/130 (LE). 62 y: yellow-white pisciform flecks throughout the posterior pole and parafoveal chorioretinal atrophy with foveal sparing; 68 y: chorioretinal atrophy in macula with a few surrounding pisciform yellow-white flecks" "61y" "" "initial symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262346" "04214" "00367008" "01695" "Unknown" "" "At the age of 58, the visual acuity was 20/20 (RE) and 20/22 (LE). Predominantly perimacular pisciform yellow-white flecks and mottled decreased FAF in macula with foveal sparing" "" "52y" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262347" "04214" "00367009" "01695" "Unknown" "" "At the age of 41, the visual acuity was 20/66 (RE) and 20/66 (LE). Foveal changes with perimacular and peripapillary irregular yellow-white flecks and mottled decreased FAF in macula" "32y" "" "initial symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262348" "04214" "00367010" "01695" "Unknown" "" "At the age of 76, the visual acuity was 20/25 (RE) and 20/32 (LE). Parafoveal pigmentary changes RE, and chorioretinal atrophy with foveal sparing and hyper- and hypoautofluorescent flecks throughout posterior pole on FAF" "72y" "" "initial symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262349" "04214" "00367011" "01695" "Unknown" "" "At the age of 70, the visual acuity was CF (RE) and CF (LE). Extensive chorioretinal atrophy and pigmentary changes in posterior pole and hyper- and hypoautofluorescent flecks throughout posterior pole and midperiphery on FAF" "37y" "" "initial symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262350" "04214" "00367012" "01695" "Unknown" "" "At the age of 57, the visual acuity was 20/32 (RE) and 20/330 (LE). Pigmentary changes in macula,perimacular yellow-white flecks, and chorioretinal atrophy with in RE foveal sparing, in both eyes surrounded by an area of increased background FAF" "56y" "" "initial symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262351" "04214" "00367013" "01695" "Unknown" "" "At the age of 29, the visual acuity was 20/200 (RE) and 20/125 (LE). Foveal changes and perimacular yellow-white flecks (no OCT/FAF)" "23y" "" "initial symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262352" "04214" "00367014" "01695" "Unknown" "" "At the age of 46, the visual acuity was 20/200 (RE) and 20/200 (LE). Foveal changes with perimacular yellow-white irregular flecks and mottled decreased FAF in macula" "" "31y" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262353" "04214" "00367015" "01695" "Unknown" "" "At the age of 69, the visual acuity was 20/50 (RE) and 20/100 (LE). Foveal changes with yellow-white pisciform flecks throughout the posterior pole and midperiphery and chorioretinal atrophy with foveal sparing; Attenuated arterioles" "53y" "" "initial symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262354" "04214" "00367016" "01695" "Unknown" "" "At the age of 39, the visual acuity was 20/22 (RE) and 20/20 (LE). Foveal changes with perimacular yellow-white irregular flecks and mottled FAF in macula with foveal sparing" "32y" "" "initial symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262355" "04214" "00367017" "01695" "Unknown" "" "At the age of 46, the visual acuity was 20/30 (RE) and 20/32 (LE). Foveal changes with perimacular yellow-white irregular flecks and mottled decreased FAF in macula" "" "42y" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262356" "04214" "00367018" "01695" "Unknown" "" "At the age of 30, the visual acuity was 20/28 (RE) and 20/22 (LE). Perimacular ring of increased FAF around a zone of mottled decreased FAF with foveal sparing and normal fovea reflex; A few mild hyperfluorescent flecks in posterior pole" "" "30y" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262357" "04214" "00367019" "01695" "Unknown" "" "At the age of 30, the visual acuity was 20/200 (RE) and 20/50 (LE). Foveal changes with perimacular yellow-white irregular flecks and mottled decreased FAF in macula" "26y" "" "initial symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262358" "04214" "00367020" "01695" "Unknown" "" "At the age of 40, the visual acuity was 20/40 (RE) and 20/66 (LE). Perimacular yellow-white pisciform flecks and mottled decreased FAF in macula with foveal sparing" "" "37y" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262359" "04214" "00367021" "01695" "Unknown" "" "At the age of 31, the visual acuity was CF (RE) and 20/100 (LE). Perimacular yellow-white pisciform flecks and mottled decreased FAF in macula, surrounded by a zone of increased background FAF, initially with foveal sparing" "" "27y" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262360" "04214" "00367022" "01695" "Unknown" "" "At the age of 55, the visual acuity was 20/130 (RE) and 20/200 (LE). Perimacular yellow-white irregular flecks and a zone of increased background FAF in macula with foveal mottled decreased FAF" "42y" "" "initial symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262361" "04214" "00367023" "01695" "Unknown" "" "At the age of 53, the visual acuity was 20/25 (RE) and 20/20 (LE). Perimacular yellow-white irregular flecks; Parafoveal chorioretinal atrophy with foveal sparing in RE, and mottled decreased FAF with foveal sparing in LE" "" "47y" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262362" "04214" "00367024" "01695" "Unknown" "" "At the age of 44, the visual acuity was CF (RE) and CF (LE). 22 y: Abnormal foveal reflex with macular pigmentary changes; 44 y: Perimacular yellow-white irregular flecks and chorioretinal atrophy in macula" "21y" "" "initial symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262363" "04214" "00367025" "01695" "Unknown" "" "At the age of 58, the visual acuity was 20/20 (RE) and 20/20 (LE). Yellow-white pisciform flecks throughout the posterior pole, no atrophy" "57y" "" "initial symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262364" "04214" "00367026" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262365" "04214" "00367027" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262366" "04214" "00367028" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262367" "04214" "00367029" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262368" "04214" "00367030" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262369" "04214" "00367031" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262370" "04214" "00367032" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262371" "04214" "00367033" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262372" "04214" "00367034" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262373" "04214" "00367035" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262374" "04214" "00367036" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262375" "04214" "00367037" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262376" "04214" "00367038" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262377" "04214" "00367039" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262378" "04214" "00367040" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262379" "04214" "00367041" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262380" "04214" "00367042" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262381" "04214" "00367043" "01695" "Unknown" "" "At the age of 85 the BCVA was CF (OD) and CF (OS)." "20y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262382" "04214" "00367044" "01695" "Unknown" "" "At the age of 68 the BCVA was 20/400 (OD) and 20/400 (OS)." "29y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262383" "04214" "00367045" "01695" "Unknown" "" "At the age of 74 the BCVA was 20/400 (OD) and 20/400 (OS)." "14y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262384" "04214" "00367046" "01695" "Unknown" "" "At the age of 55 the BCVA was 20/400 (OD) and 20/400 (OS)." "9y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262385" "04214" "00367047" "01695" "Unknown" "" "At the age of 48 the BCVA was 20/400 (OD) and 20/400 (OS)." "5y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262386" "04214" "00367048" "01695" "Unknown" "" "At the age of 75 the BCVA was CF (OD) and CF (OS)." "25y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262387" "04214" "00367049" "01695" "Unknown" "" "At the age of 62 the BCVA was CF (OD) and 20/400 (OS)." "14y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262388" "04214" "00367050" "01695" "Unknown" "" "At the age of 72 the BCVA was HM (OD) and HM (OS)." "17y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262389" "04214" "00367051" "01695" "Unknown" "" "At the age of 68 the BCVA was 20/400 (OD) and 20/400 (OS)." "18y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262390" "04214" "00367052" "01695" "Unknown" "" "At the age of 70 the BCVA was CF (OD) and 20/400 (OS)." "5y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262391" "04214" "00367053" "01695" "Unknown" "" "At the age of 72 the BCVA was CF (OD) and CF (OS)." "5y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262392" "04214" "00367054" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262393" "04214" "00367055" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262394" "04214" "00367056" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262395" "04214" "00367057" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262396" "04214" "00367058" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262397" "04214" "00367059" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262398" "04214" "00367060" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262399" "04214" "00367061" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262400" "04214" "00367062" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262401" "04214" "00367063" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262402" "04214" "00367064" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262403" "04214" "00367065" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262404" "04214" "00367066" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262405" "04214" "00367067" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262406" "04214" "00367068" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262407" "04214" "00367069" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262408" "04214" "00367070" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262409" "04214" "00367071" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262410" "04214" "00367072" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262411" "04214" "00367073" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262412" "04214" "00367074" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262413" "04214" "00367075" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262414" "04214" "00367076" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262415" "04214" "00367077" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262416" "04214" "00367078" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262417" "04214" "00367079" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262418" "04214" "00367080" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262419" "04214" "00367081" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262420" "04214" "00367082" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262421" "04214" "00367083" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262422" "04214" "00367084" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262423" "04214" "00367085" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262424" "04214" "00367086" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262425" "04214" "00367087" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262426" "04214" "00367088" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262427" "04214" "00367089" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262428" "04214" "00367090" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262429" "04214" "00367091" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262430" "04214" "00367092" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262431" "04214" "00367093" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262432" "04214" "00367094" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262433" "04214" "00367095" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262434" "04214" "00367096" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262435" "04214" "00367097" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262436" "04214" "00367098" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262437" "04214" "00367099" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262438" "04214" "00367100" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262439" "04214" "00367101" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262440" "04214" "00367102" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262441" "04214" "00367103" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262442" "04214" "00367104" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262443" "04214" "00367105" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262444" "04214" "00367106" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262445" "04214" "00367107" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262446" "04214" "00367108" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262447" "04214" "00367109" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262448" "04214" "00367110" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262449" "04214" "00367111" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262450" "04214" "00367112" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262451" "04214" "00367113" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262452" "04214" "00367114" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262453" "04214" "00367115" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262454" "04214" "00367116" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262455" "04214" "00367117" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262456" "04214" "00367118" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262457" "04214" "00367119" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262458" "04214" "00367120" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262459" "04214" "00367121" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262460" "04214" "00367122" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262461" "04214" "00367123" "01695" "Unknown" "" "At the age of 17, the visual acuity was 20/200 20/200 (RE/LE). Fundus autofluorescence showed: an area of foveal hypofluorescence surrounded by an area with a heterogeneous appearance and hyperautofluorescent and hypoautofluorescent points that extend to the temporal arcades, giving the retina a reticulate appearance." "7y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262462" "04214" "00367124" "01695" "Unknown" "" "At the age of 63, the visual acuity was FC20cm FC20cm (RE/LE). Fundus autofluorescence showed: extensive areas of hypoautofluorescence in the posterior pole and a heterogeneous appearance of the remaining retinal areas, with hyperautofluorescent and hypoautofluorescent points." "16y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262463" "04214" "00367125" "01695" "Unknown" "" "At the age of 35, the visual acuity was 20/200 20/150 (RE/LE). Fundus autofluorescence showed: an area of foveal hypoautofluorescence surrounded by a retina with a homogeneous appearance, with or without foci of high or low autofluorescent signals." "11y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262464" "04214" "00367126" "01695" "Unknown" "" "At the age of 24, the visual acuity was FC1m 20/200 (RE/LE). Fundus autofluorescence showed: an area of foveal hypofluorescence surrounded by an area with a heterogeneous appearance and hyperautofluorescent and hypoautofluorescent points that extend to the temporal arcades, giving the retina a reticulate appearance." "12y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262465" "04214" "00367127" "01695" "Unknown" "" "At the age of 40, the visual acuity was FC20cm FC10cm (RE/LE). Fundus autofluorescence showed: extensive areas of hypoautofluorescence in the posterior pole and a heterogeneous appearance of the remaining retinal areas, with hyperautofluorescent and hypoautofluorescent points." "12y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262466" "04214" "00367128" "01695" "Unknown" "" "At the age of 38, the visual acuity was 20/150 20/200 (RE/LE). Fundus autofluorescence showed: an area of foveal hypofluorescence surrounded by an area with a heterogeneous appearance and hyperautofluorescent and hypoautofluorescent points that extend to the temporal arcades, giving the retina a reticulate appearance." "6y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262467" "04214" "00367129" "01695" "Unknown" "" "At the age of 31, the visual acuity was 20/400 20/400 (RE/LE). Fundus autofluorescence showed: an area of foveal hypofluorescence surrounded by an area with a heterogeneous appearance and hyperautofluorescent and hypoautofluorescent points that extend to the temporal arcades, giving the retina a reticulate appearance." "6y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262468" "04214" "00367130" "01695" "Unknown" "" "At the age of 26, the visual acuity was FC1.5m FC1.5m (RE/LE). Fundus autofluorescence showed: an area of foveal hypofluorescence surrounded by an area with a heterogeneous appearance and hyperautofluorescent and hypoautofluorescent points that extend to the temporal arcades, giving the retina a reticulate appearance." "11y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262469" "04214" "00367131" "01695" "Unknown" "" "At the age of 32, the visual acuity was 20/150 20/150 (RE/LE). Fundus autofluorescence showed: an area of foveal hypofluorescence surrounded by an area with a heterogeneous appearance and hyperautofluorescent and hypoautofluorescent points that extend to the temporal arcades, giving the retina a reticulate appearance." "16y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262470" "04214" "00367132" "01695" "Unknown" "" "At the age of 46, the visual acuity was FC1.5m FC1.5m (RE/LE). Fundus autofluorescence showed: extensive areas of hypoautofluorescence in the posterior pole and a heterogeneous appearance of the remaining retinal areas, with hyperautofluorescent and hypoautofluorescent points." "15y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262471" "04214" "00367133" "01695" "Unknown" "" "At the age of 26, the visual acuity was 20/400 20/400 (RE/LE). Fundus autofluorescence showed: extensive areas of hypoautofluorescence in the posterior pole and a heterogeneous appearance of the remaining retinal areas, with hyperautofluorescent and hypoautofluorescent points." "7y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262472" "04214" "00367134" "01695" "Unknown" "" "At the age of 14, the visual acuity was 20/80 20/80 (RE/LE). Fundus autofluorescence showed: an area of foveal hypofluorescence surrounded by an area with a heterogeneous appearance and hyperautofluorescent and hypoautofluorescent points that extend to the temporal arcades, giving the retina a reticulate appearance." "9y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262473" "04214" "00367135" "01695" "Unknown" "" "At the age of 26, the visual acuity was 20/50 20/60 (RE/LE). Fundus autofluorescence showed: an area of foveal hypoautofluorescence surrounded by a retina with a homogeneous appearance, with or without foci of high or low autofluorescent signals." "16y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262474" "04214" "00367136" "01695" "Unknown" "" "At the age of 16, the visual acuity was N/A N/A (RE/LE). Fundus autofluorescence showed: an area of foveal hypofluorescence surrounded by an area with a heterogeneous appearance and hyperautofluorescent and hypoautofluorescent points that extend to the temporal arcades, giving the retina a reticulate appearance." "8y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262475" "04214" "00367137" "01695" "Unknown" "" "At the age of 39, the visual acuity was 20/30 FC10cm (RE/LE). Fundus autofluorescence showed: an area of foveal hypofluorescence surrounded by an area with a heterogeneous appearance and hyperautofluorescent and hypoautofluorescent points that extend to the temporal arcades, giving the retina a reticulate appearance." "36y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262476" "04214" "00367138" "01695" "Unknown" "" "At the age of 31, the visual acuity was 20/30 20/30 (RE/LE). Fundus autofluorescence showed: extensive areas of hypoautofluorescence in the posterior pole and a heterogeneous appearance of the remaining retinal areas, with hyperautofluorescent and hypoautofluorescent points." "28y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262477" "04214" "00367139" "01695" "Unknown" "" "At the age of 36, the visual acuity was FC1.5m FC1.5m (RE/LE). Fundus autofluorescence showed: extensive areas of hypoautofluorescence in the posterior pole and a heterogeneous appearance of the remaining retinal areas, with hyperautofluorescent and hypoautofluorescent points." "8y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262478" "04214" "00367140" "01695" "Unknown" "" "At the age of 10, the visual acuity was 20/200 20/200 (RE/LE). Fundus autofluorescence showed: an area of foveal hypofluorescence surrounded by an area with a heterogeneous appearance and hyperautofluorescent and hypoautofluorescent points that extend to the temporal arcades, giving the retina a reticulate appearance." "9y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262479" "04214" "00367141" "01695" "Unknown" "" "At the age of 30, the visual acuity was 20/200 20/200 (RE/LE). Fundus autofluorescence showed: an area of foveal hypoautofluorescence surrounded by a retina with a homogeneous appearance, with or without foci of high or low autofluorescent signals." "12y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262480" "04214" "00367142" "01695" "Unknown" "" "At the age of 26, the visual acuity was FC2m FC1m (RE/LE). Fundus autofluorescence showed: extensive areas of hypoautofluorescence in the posterior pole and a heterogeneous appearance of the remaining retinal areas, with hyperautofluorescent and hypoautofluorescent points." "5y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262481" "04214" "00367143" "01695" "Unknown" "" "At the age of 13, the visual acuity was 20/200 20/200 (RE/LE). Fundus autofluorescence showed: an area of foveal hypofluorescence surrounded by an area with a heterogeneous appearance and hyperautofluorescent and hypoautofluorescent points that extend to the temporal arcades, giving the retina a reticulate appearance." "8y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262482" "04214" "00367144" "01695" "Unknown" "" "At the age of 26, the visual acuity was FC50cm FC2m (RE/LE). Fundus autofluorescence showed: extensive areas of hypoautofluorescence in the posterior pole and a heterogeneous appearance of the remaining retinal areas, with hyperautofluorescent and hypoautofluorescent points." "8y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262483" "04214" "00367145" "01695" "Unknown" "" "At the age of 59, the visual acuity was Hm FC10cm (RE/LE). Fundus autofluorescence showed: extensive areas of hypoautofluorescence in the posterior pole and a heterogeneous appearance of the remaining retinal areas, with hyperautofluorescent and hypoautofluorescent points." "7y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262484" "04214" "00367146" "01695" "Unknown" "" "At the age of 65, the visual acuity was HM HM (RE/LE). Fundus autofluorescence showed: extensive areas of hypoautofluorescence in the posterior pole and a heterogeneous appearance of the remaining retinal areas, with hyperautofluorescent and hypoautofluorescent points." "8y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262485" "04214" "00367147" "01695" "Unknown" "" "At the age of 10, the visual acuity was 20/200 FC2m (RE/LE). Fundus autofluorescence showed: an area of foveal hypofluorescence surrounded by an area with a heterogeneous appearance and hyperautofluorescent and hypoautofluorescent points that extend to the temporal arcades, giving the retina a reticulate appearance." "8y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262486" "04214" "00367148" "01695" "Unknown" "" "At the age of 31, the visual acuity was FC1.5m FC1.5m (RE/LE). Fundus autofluorescence showed: extensive areas of hypoautofluorescence in the posterior pole and a heterogeneous appearance of the remaining retinal areas, with hyperautofluorescent and hypoautofluorescent points." "7y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262487" "04214" "00367149" "01695" "Unknown" "" "At the age of 61, the visual acuity was 20/400 20/400 (RE/LE). Fundus autofluorescence showed: unknown." "40y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262488" "04214" "00367150" "01695" "Unknown" "" "At the age of 37, the visual acuity was 20/150 20/150 (RE/LE). Fundus autofluorescence showed: an area of foveal hypofluorescence surrounded by an area with a heterogeneous appearance and hyperautofluorescent and hypoautofluorescent points that extend to the temporal arcades, giving the retina a reticulate appearance." "14y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262489" "04214" "00367151" "01695" "Unknown" "" "At the age of 38, the visual acuity was FC1.5m 20/400 (RE/LE). Fundus autofluorescence showed: extensive areas of hypoautofluorescence in the posterior pole and a heterogeneous appearance of the remaining retinal areas, with hyperautofluorescent and hypoautofluorescent points." "7y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262490" "04214" "00367152" "01695" "Unknown" "" "At the age of 23, the visual acuity was N/A N/A (RE/LE). Fundus autofluorescence showed: an area of foveal hypoautofluorescence surrounded by a retina with a homogeneous appearance, with or without foci of high or low autofluorescent signals." "" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262491" "04214" "00367153" "01695" "Unknown" "" "At the age of 10, the visual acuity was 20/200 20/200 (RE/LE). Fundus autofluorescence showed: an area of foveal hypoautofluorescence surrounded by a retina with a homogeneous appearance, with or without foci of high or low autofluorescent signals." "10y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262492" "04214" "00367154" "01695" "Unknown" "" "At the age of 33, the visual acuity was N/A N/A (RE/LE). Fundus autofluorescence showed: extensive areas of hypoautofluorescence in the posterior pole and a heterogeneous appearance of the remaining retinal areas, with hyperautofluorescent and hypoautofluorescent points." "7y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262493" "04214" "00367155" "01695" "Unknown" "" "At the age of 20, the visual acuity was 20/25 20/25 (RE/LE). Fundus autofluorescence showed: an area of foveal hypoautofluorescence surrounded by a retina with a homogeneous appearance, with or without foci of high or low autofluorescent signals." "20y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262494" "04214" "00367156" "01695" "Unknown" "" "At the age of 28, the visual acuity was 20/25 20/25 (RE/LE). Fundus autofluorescence showed: an area of foveal hypoautofluorescence surrounded by a retina with a homogeneous appearance, with or without foci of high or low autofluorescent signals." "7y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262495" "04214" "00367157" "01695" "Unknown" "" "At the age of 21, the visual acuity was 20/400 20/400 (RE/LE). Fundus autofluorescence showed: unknown." "20y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262496" "04214" "00367158" "01695" "Unknown" "" "At the age of 39, the visual acuity was 20/400 20/400 (RE/LE). Fundus autofluorescence showed: extensive areas of hypoautofluorescence in the posterior pole and a heterogeneous appearance of the remaining retinal areas, with hyperautofluorescent and hypoautofluorescent points." "23y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262497" "04214" "00367159" "01695" "Unknown" "" "At the age of 27, the visual acuity was 20/200 20/200 (RE/LE). Fundus autofluorescence showed: unknown." "" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262498" "04214" "00367160" "01695" "Unknown" "" "At the age of 38, the visual acuity was 20/400 20/400 (RE/LE). Fundus autofluorescence showed: extensive areas of hypoautofluorescence in the posterior pole and a heterogeneous appearance of the remaining retinal areas, with hyperautofluorescent and hypoautofluorescent points." "17y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262499" "04214" "00367161" "01695" "Unknown" "" "At the age of unknown, the visual acuity was N/A N/A (RE/LE). Fundus autofluorescence showed: extensive areas of hypoautofluorescence in the posterior pole and a heterogeneous appearance of the remaining retinal areas, with hyperautofluorescent and hypoautofluorescent points." "" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262500" "04214" "00367162" "01695" "Unknown" "" "At the age of 61, the visual acuity was 20/400 20/400 (RE/LE). Fundus autofluorescence showed: extensive areas of hypoautofluorescence in the posterior pole and a heterogeneous appearance of the remaining retinal areas, with hyperautofluorescent and hypoautofluorescent points." "18y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262501" "04214" "00367163" "01695" "Unknown" "" "At the age of 26, the visual acuity was 20/400 20/400 (RE/LE). Fundus autofluorescence showed: an area of foveal hypofluorescence surrounded by an area with a heterogeneous appearance and hyperautofluorescent and hypoautofluorescent points that extend to the temporal arcades, giving the retina a reticulate appearance." "7y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262502" "04214" "00367164" "01695" "Unknown" "" "At the age of 32, the visual acuity was 20/60 20/150 (RE/LE). Fundus autofluorescence showed: an area of foveal hypoautofluorescence surrounded by a retina with a homogeneous appearance, with or without foci of high or low autofluorescent signals." "32y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262503" "04214" "00367165" "01695" "Unknown" "" "At the age of 25, the visual acuity was 20/400 20/400 (RE/LE). Fundus autofluorescence showed: an area of foveal hypoautofluorescence surrounded by a retina with a homogeneous appearance, with or without foci of high or low autofluorescent signals." "15y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262504" "04214" "00367166" "01695" "Unknown" "" "At the age of 31, the visual acuity was 20/400 20/400 (RE/LE). Fundus autofluorescence showed: an area of foveal hypofluorescence surrounded by an area with a heterogeneous appearance and hyperautofluorescent and hypoautofluorescent points that extend to the temporal arcades, giving the retina a reticulate appearance." "15y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262505" "04214" "00367167" "01695" "Unknown" "" "At the age of 11, the visual acuity was 20/30 20/30 (RE/LE). Fundus autofluorescence showed: an area of foveal hypoautofluorescence surrounded by a retina with a homogeneous appearance, with or without foci of high or low autofluorescent signals." "10y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262506" "04214" "00367168" "01695" "Unknown" "" "At the age of 47, the visual acuity was FC2m FC2m (RE/LE). Fundus autofluorescence showed: extensive areas of hypoautofluorescence in the posterior pole and a heterogeneous appearance of the remaining retinal areas, with hyperautofluorescent and hypoautofluorescent points." "14y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262507" "04214" "00367169" "01695" "Unknown" "" "On examination, at the age of 13, her best corrected visual acuity was 20/200 in both eyes with ?14.00 sph + 1.75 cyl @130 on the right (OD) and ?12.75 sph + 1.00 cyl @ 90 on the left (OS). The medical records and family report showed that two years prior her initial presentation to our clinic, the patient’s visual acuity was 20/60 OD and 20/50 OS, respectively. They also showed a significant decline to 20/150 in both eyes noted 6 months prior to her appointment with us." "12y6m" "" "decreased vision in both eyes" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262508" "04214" "00367170" "01695" "Unknown" "" "On examination, at the age of 67, her best corrected visual acuity was 20/400 in OD and 20/250 in OS with -8.00 D sphere in both eyes. Her axial eye length was 25 mm OD and 25.1 mm OS. Her intraocular pressure and anterior segment examination were unremarkable in both eyes. Her fundus examination revealed macular pigment clumping and RPE atrophy with beaten bronze appearance in both eyes. No vitreous abnormality was identified. Previous GVF revealed a relative central scotoma with generalized constriction on both eyes." "20y" "" "diagnosis of macular degeneration" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262509" "04214" "00367171" "01695" "Familial, autosomal recessive" "" "" "10y" "" "visual acuity decreased" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262510" "04214" "00367172" "01695" "Familial, autosomal recessive" "" "" "30y" "" "blurred vision" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262511" "04214" "00367173" "01695" "Familial, autosomal recessive" "" "" "25y" "" "Paracentral black spot OS only" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262512" "04214" "00367174" "01695" "Familial, autosomal recessive" "" "" "52y" "" "Night vision and glare" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262513" "04214" "00367175" "01695" "Familial, autosomal recessive" "" "" "48y" "" "Metamorphopsia" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262514" "04214" "00367176" "01695" "Familial, autosomal recessive" "" "" "17y" "" "Central and photoaversion" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262515" "04214" "00367177" "01695" "Familial, autosomal recessive" "" "" "45y" "" "Night vision" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262516" "04214" "00367178" "01695" "Familial, autosomal recessive" "" "" "29y" "" "Reading and missing text (also slow dark adaptation, photoaversion)" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262517" "04214" "00367179" "01695" "Familial, autosomal recessive" "" "" "35y" "" "Reading" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262518" "04214" "00367180" "01695" "Familial, autosomal recessive" "" "" "40y" "" "Reading and slow dark adaptation" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262519" "04214" "00367181" "01695" "Familial, autosomal recessive" "" "" "45y" "" "Uncertain (photoaversion, nyctalopia, and central)" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262520" "04214" "00367182" "01695" "Familial, autosomal recessive" "" "" "48y" "" "Central, mild color" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262521" "04214" "00367183" "01695" "Familial, autosomal recessive" "" "" "67y" "" "Paracentral (missed spots while cleaning)" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262522" "04214" "00367184" "01695" "Familial, autosomal recessive" "" "" "50y" "" "Night vision" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262523" "04214" "00367185" "01695" "Familial, autosomal recessive" "" "" "32y" "" "Reading (misreads words and photoaversion)" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262524" "04214" "00367186" "01695" "Familial, autosomal recessive" "" "" "35y" "" "Photoaversion" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262525" "04214" "00367187" "01695" "Familial, autosomal recessive" "" "" "57y" "" "Glare and photoaversion" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262526" "04214" "00367188" "01695" "Familial, autosomal recessive" "" "" "62y" "" "Paracentral blurry spot OD" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262527" "04214" "00367189" "01695" "Familial, autosomal recessive" "" "" "21y" "" "Reading (also photoaversion and color)" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262528" "04214" "00367190" "01695" "Familial, autosomal recessive" "" "" "28y" "" "Night driving (age 29 years central blur)" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262529" "04214" "00367191" "01695" "Familial, autosomal recessive" "" "foveal sparing" "43y" "" "Reading" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262530" "04214" "00367192" "01695" "Familial, autosomal recessive" "" "" "43y" "" "Metamorphopsia" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262531" "04214" "00367193" "01695" "Unknown" "" "On our examination, her best-corrected visual acuity (BCVA) was 3/10 in OD and 2/10 in OS. Slit-lamp examination was unremarkable OU. Applanation tonometer was 15 mm Hg bilaterally. Fundus examination demonstrated almost symmetrical bilateral marked intraretinal and subretinal exudation, telengiectatic vessels, and macroaneurysms localized to equatorial fundus and temporal fundus OU. Fluorescein angiography revealed bilateral significant capillary nonperfusion noted mostly in the temporal retinal periphery together with light-bulb-like capillary dilations and staining of telangiectatic vessels. Optical coherence tomography disclosed bilateral intraretinal cystic edema more severe in the left macula. There were also hyperreflective dots in the posterior vitreous of the right eyeball due to mild intravitreal hemorrhage. The clinical appearance was compatible with bilateral stage 2B Coats disease according to the classification." "" "" "unknown" "" "" "" "" "" "" "Coat\'s disease" ""
"0000262532" "04214" "00367194" "01695" "Unknown" "" "At the age of 30, the BCVA was LP in both eyes. Macular hyperpigmentation Chorioretinal scars" "13y" "" "the first symptoms of loss of central vision emerged followed by gradual loss of visual acuity" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262533" "04214" "00367195" "01695" "Unknown" "" "A 35-year-old man of Han Chinese, presented poor visual acuity at 6 years of age. His BCVA was 20/66 (right) and 20/200 (left). Ophthalmoscopic examination of the proband showed bilateral macular atrophy, and photoreceptor and RPE cells degeneration. Fundus imaging demonstrated some pigment mottling, a beaten-bronze appearance in the macular area, and yellowish flecks in bilateral maculae. FFA revealed extension of hyper-fluorescent flecks into the mid-peripheral retina, and formation of fluorescence blocking in the macular area due to pigment mottling. OCT showed hyper-reflective deposition between the RPE layer and the photoreceptor outer segments, retinal outer layer attenuation, and choroidal reflectivity increment." "6y" "" "poor visual acuity" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262534" "04214" "00367196" "01695" "Unknown" "" "developed vision loss and macular flecks at the age of 12 years due to autosomal recessive STGD1" "12y" "" "vision loss and macular flecks" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262535" "04214" "00367197" "01695" "Unknown" "" "at least one of the following features of STGD1: yellow-white pisciform flecks in the retinal pigment epithelium of the posterior pole which were hyperautofluorescent on fundus autofluorescence imaging; and/or progressive atrophy of the macular retinal pigment epithelium" "38y" "" "initial symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262536" "04214" "00367198" "01695" "Unknown" "" "at least one of the following features of STGD1: yellow-white pisciform flecks in the retinal pigment epithelium of the posterior pole which were hyperautofluorescent on fundus autofluorescence imaging; and/or progressive atrophy of the macular retinal pigment epithelium" "10y" "" "initial symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262537" "04214" "00367199" "01695" "Unknown" "" "at least one of the following features of STGD1: yellow-white pisciform flecks in the retinal pigment epithelium of the posterior pole which were hyperautofluorescent on fundus autofluorescence imaging; and/or progressive atrophy of the macular retinal pigment epithelium" "48y" "" "initial symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262538" "04214" "00367200" "01695" "Unknown" "" "at least one of the following features of STGD1: yellow-white pisciform flecks in the retinal pigment epithelium of the posterior pole which were hyperautofluorescent on fundus autofluorescence imaging; and/or progressive atrophy of the macular retinal pigment epithelium" "45y" "" "initial symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262539" "04214" "00367201" "01695" "Unknown" "" "at least one of the following features of STGD1: yellow-white pisciform flecks in the retinal pigment epithelium of the posterior pole which were hyperautofluorescent on fundus autofluorescence imaging; and/or progressive atrophy of the macular retinal pigment epithelium" "7y" "" "initial symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262540" "04214" "00367202" "01695" "Unknown" "" "at least one of the following features of STGD1: yellow-white pisciform flecks in the retinal pigment epithelium of the posterior pole which were hyperautofluorescent on fundus autofluorescence imaging; and/or progressive atrophy of the macular retinal pigment epithelium" "20y" "" "initial symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262541" "04214" "00367203" "01695" "Unknown" "" "at least one of the following features of STGD1: yellow-white pisciform flecks in the retinal pigment epithelium of the posterior pole which were hyperautofluorescent on fundus autofluorescence imaging; and/or progressive atrophy of the macular retinal pigment epithelium" "51y" "" "initial symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262542" "04214" "00367204" "01695" "Unknown" "" "at least one of the following features of STGD1: yellow-white pisciform flecks in the retinal pigment epithelium of the posterior pole which were hyperautofluorescent on fundus autofluorescence imaging; and/or progressive atrophy of the macular retinal pigment epithelium" "53y" "" "initial symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262543" "04214" "00367205" "01695" "Unknown" "" "at least one of the following features of STGD1: yellow-white pisciform flecks in the retinal pigment epithelium of the posterior pole which were hyperautofluorescent on fundus autofluorescence imaging; and/or progressive atrophy of the macular retinal pigment epithelium" "44y" "" "initial symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262544" "04214" "00367206" "01695" "Unknown" "" "at least one of the following features of STGD1: yellow-white pisciform flecks in the retinal pigment epithelium of the posterior pole which were hyperautofluorescent on fundus autofluorescence imaging; and/or progressive atrophy of the macular retinal pigment epithelium" "61y" "" "initial symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262545" "04214" "00367207" "01695" "Unknown" "" "at least one of the following features of STGD1: yellow-white pisciform flecks in the retinal pigment epithelium of the posterior pole which were hyperautofluorescent on fundus autofluorescence imaging; and/or progressive atrophy of the macular retinal pigment epithelium" "62y" "" "initial symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262546" "04214" "00367208" "01695" "Unknown" "" "at least one of the following features of STGD1: yellow-white pisciform flecks in the retinal pigment epithelium of the posterior pole which were hyperautofluorescent on fundus autofluorescence imaging; and/or progressive atrophy of the macular retinal pigment epithelium" "61y" "" "initial symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262547" "04214" "00367209" "01695" "Unknown" "" "at least one of the following features of STGD1: yellow-white pisciform flecks in the retinal pigment epithelium of the posterior pole which were hyperautofluorescent on fundus autofluorescence imaging; and/or progressive atrophy of the macular retinal pigment epithelium" "18y" "" "initial symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262548" "04214" "00367210" "01695" "Unknown" "" "at least one of the following features of STGD1: yellow-white pisciform flecks in the retinal pigment epithelium of the posterior pole which were hyperautofluorescent on fundus autofluorescence imaging; and/or progressive atrophy of the macular retinal pigment epithelium" "31y" "" "initial symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262549" "04214" "00367211" "01695" "Unknown" "" "at least one of the following features of STGD1: yellow-white pisciform flecks in the retinal pigment epithelium of the posterior pole which were hyperautofluorescent on fundus autofluorescence imaging; and/or progressive atrophy of the macular retinal pigment epithelium" "49y" "" "initial symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262550" "04214" "00367212" "01695" "Unknown" "" "at least one of the following features of STGD1: yellow-white pisciform flecks in the retinal pigment epithelium of the posterior pole which were hyperautofluorescent on fundus autofluorescence imaging; and/or progressive atrophy of the macular retinal pigment epithelium" "4y" "" "initial symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262551" "04214" "00367213" "01695" "Unknown" "" "at least one of the following features of STGD1: yellow-white pisciform flecks in the retinal pigment epithelium of the posterior pole which were hyperautofluorescent on fundus autofluorescence imaging; and/or progressive atrophy of the macular retinal pigment epithelium" "69y" "" "initial symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262552" "04214" "00367214" "01695" "Unknown" "" "at least one of the following features of STGD1: yellow-white pisciform flecks in the retinal pigment epithelium of the posterior pole which were hyperautofluorescent on fundus autofluorescence imaging; and/or progressive atrophy of the macular retinal pigment epithelium" "52y" "" "initial symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262553" "04214" "00367215" "01695" "Unknown" "" "at least one of the following features of STGD1: yellow-white pisciform flecks in the retinal pigment epithelium of the posterior pole which were hyperautofluorescent on fundus autofluorescence imaging; and/or progressive atrophy of the macular retinal pigment epithelium" "64y" "" "initial symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262554" "04214" "00367216" "01695" "Unknown" "" "at least one of the following features of STGD1: yellow-white pisciform flecks in the retinal pigment epithelium of the posterior pole which were hyperautofluorescent on fundus autofluorescence imaging; and/or progressive atrophy of the macular retinal pigment epithelium" "35y" "" "initial symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262555" "04214" "00367217" "01695" "Unknown" "" "at least one of the following features of STGD1: yellow-white pisciform flecks in the retinal pigment epithelium of the posterior pole which were hyperautofluorescent on fundus autofluorescence imaging; and/or progressive atrophy of the macular retinal pigment epithelium" "9y" "" "initial symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262556" "04214" "00367218" "01695" "Unknown" "" "at least one of the following features of STGD1: yellow-white pisciform flecks in the retinal pigment epithelium of the posterior pole which were hyperautofluorescent on fundus autofluorescence imaging; and/or progressive atrophy of the macular retinal pigment epithelium" "15y" "" "initial symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262557" "04214" "00367219" "01695" "Unknown" "" "at least one of the following features of STGD1: yellow-white pisciform flecks in the retinal pigment epithelium of the posterior pole which were hyperautofluorescent on fundus autofluorescence imaging; and/or progressive atrophy of the macular retinal pigment epithelium" "<11y" "" "initial symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262558" "04214" "00367220" "01695" "Unknown" "" "at least one of the following features of STGD1: yellow-white pisciform flecks in the retinal pigment epithelium of the posterior pole which were hyperautofluorescent on fundus autofluorescence imaging; and/or progressive atrophy of the macular retinal pigment epithelium" "<52y" "" "initial symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262559" "04214" "00367221" "01695" "Unknown" "" "At the age of 21, the BCVA (RE) was counting fingers 50 cm and the BCVA (LE) was counting fingers 75 cm. At the age of 21 the fundus showed: Macular atrophy. Intraretinal bone spicule like pigment migration beyond the vascular arcade." "5y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262560" "04214" "00367222" "01695" "Unknown" "" "At the age of 37, the BCVA (RE) was 0,1 and the BCVA (LE) was 0,8. At the age of 37 the fundus showed: Macular atrophy. Limited number of flecks." "36y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262561" "04214" "00367223" "01695" "Unknown" "" "At the age of 39, the BCVA (RE) was 0,2 and the BCVA (LE) was 0,2. At the age of 32 the fundus showed: Macular atrophy. Small area. Limited number of flecks." "18y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262562" "04214" "00367224" "01695" "Unknown" "" "At the age of 46, the BCVA (RE) was 0,1 and the BCVA (LE) was 0,1. At the age of 43 the fundus showed: Foveal atrophy. Limited number of flecks." "39y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262563" "04214" "00367225" "01695" "Unknown" "" "At the age of 48, the BCVA (RE) was 0,1 and the BCVA (LE) was 0,1. At the age of NA the fundus showed: Fundus flavimaculatus." "32y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262564" "04214" "00367226" "01695" "Unknown" "" "At the age of 76, the BCVA (RE) was 0,1 and the BCVA (LE) was 0,1. At the age of 63 the fundus showed: Macular atrophy. Limited number of flecks." "50y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262565" "04214" "00367227" "01695" "Unknown" "" "At the age of 47, the BCVA (RE) was 0,05 and the BCVA (LE) was 0,3. At the age of NA the fundus showed: Fundus flavimaculatus." "14y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262566" "04214" "00367228" "01695" "Unknown" "" "At the age of 54, the BCVA (RE) was 0,4 and the BCVA (LE) was 0,2. At the age of 45 the fundus showed: Macular atrophy. Widespread flecks over the posterior pole." "43y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262567" "04214" "00367229" "01695" "Unknown" "" "At the age of 22, the BCVA (RE) was NA and the BCVA (LE) was NA. At the age of NA the fundus showed: NA" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262568" "04214" "00367230" "01695" "Unknown" "" "At the age of 50, the BCVA (RE) was 0,05 and the BCVA (LE) was 0,05. At the age of 42 the fundus showed: Macular atrophy. Flecks." "15y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262569" "04214" "00367231" "01695" "Unknown" "" "At the age of 48, the BCVA (RE) was 0,2 and the BCVA (LE) was 0,2. At the age of 45 the fundus showed: Foveal atrophy. Small area. Limited number of flecks." "25y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262570" "04214" "00367232" "01695" "Unknown" "" "At the age of 29, the BCVA (RE) was 0,1 and the BCVA (LE) was 0,1. At the age of NA the fundus showed: Bull´s eye macula." "15y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262571" "04214" "00367233" "01695" "Unknown" "" "At the age of 59, the BCVA (RE) was 0,8 and the BCVA (LE) was 0,5. At the age of NA the fundus showed: Fundus flavimaculatus." "53y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262572" "04214" "00367234" "01695" "Unknown" "" "At the age of 62, the BCVA (RE) was 0,1 and the BCVA (LE) was 0,1. At the age of NA the fundus showed: Fundus flavimaculatus." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262573" "04214" "00367235" "01695" "Unknown" "" "At the age of 21, the BCVA (RE) was 0,2 and the BCVA (LE) was 0,2. At the age of 21 the fundus showed: Macular atrophy. Small area." "16y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262574" "04214" "00367236" "01695" "Unknown" "" "At the age of 34, the BCVA (RE) was 0,9 and the BCVA (LE) was 0,95. At the age of 28 the fundus showed: Foveal thinning, not atrophic yet. Limited number of flecks." "26y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262575" "04214" "00367237" "01695" "Unknown" "" "At the age of 26, the BCVA (RE) was 0,1 and the BCVA (LE) was 0,1. At the age of 27 the fundus showed: Foveal atrophy. Widespread flecks evolving towards atrophy beyond vascular arcades towards periphery." "15y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262576" "04214" "00367238" "01695" "Unknown" "" "At the age of 12, the BCVA (RE) was 0,15 and the BCVA (LE) was 0,15. At the age of 10 the fundus showed: Foveal atrophy. Widespread flecks up until the vascular arcades." "9y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262577" "04214" "00367239" "01695" "Unknown" "" "At the age of 22, the BCVA (RE) was 0,05 and the BCVA (LE) was 0,05. At the age of 22 the fundus showed: Macular atrophy. Widespread flecks over the posterior pole, peripapillary sparing." "16y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262578" "04214" "00367240" "01695" "Unknown" "" "At the age of 47, the BCVA (RE) was 0,15 and the BCVA (LE) was 0,15. At the age of 45 the fundus showed: Macular atrophy. Small area." "22y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262579" "04214" "00367241" "01695" "Unknown" "" "At the age of 41, the BCVA (RE) was 0,1 and the BCVA (LE) was 0,15. At the age of 40 the fundus showed: Foveal atrophy. Limited number of flecks." "14y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262580" "04214" "00367242" "01695" "Unknown" "" "At the age of 60, the BCVA (RE) was LP and localisation and the BCVA (LE) was LP and localization. At the age of 60 the fundus showed: Macular atrophy. Widespread atrophy towards the (mid)periphery, peripapillary sparing. Limited number of flecks." "9y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262581" "04214" "00367243" "01695" "Unknown" "" "At the age of 18, the BCVA (RE) was 0,05 and the BCVA (LE) was 0,05. At the age of 20 the fundus showed: Macular atrophy. Widespread flecks." "7y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262582" "04214" "00367244" "01695" "Unknown" "" "At the age of 77, the BCVA (RE) was 0,1 and the BCVA (LE) was 0,1. At the age of NA the fundus showed: Fundus flavimaculatus. Attenuated vessels." "23y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262583" "04214" "00367245" "01695" "Unknown" "" "At the age of 35, the BCVA (RE) was 1 and the BCVA (LE) was 0,8. At the age of NA the fundus showed: Macular atrophy." "29y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262584" "04214" "00367246" "01695" "Unknown" "" "At the age of 11, the BCVA (RE) was 0,1 and the BCVA (LE) was 0,1. At the age of NA the fundus showed: Macular atrophy. RPE clumping." "9y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262585" "04214" "00367247" "01695" "Unknown" "" "At the age of 54, the BCVA (RE) was NA and the BCVA (LE) was NA. At the age of NA the fundus showed: NA" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262586" "04214" "00367248" "01695" "Unknown" "" "At the age of 13, the BCVA (RE) was 0,15 and the BCVA (LE) was 0,15. At the age of 13 the fundus showed: Macular atrophy. Widespread yellow-white round flecks beyond the vasular arcade." "7y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262587" "04214" "00367249" "01695" "Unknown" "" "At the age of 41, the BCVA (RE) was 0,5 and the BCVA (LE) was 0,05. At the age of NA the fundus showed: Bull´s eye macula. RPE atrophy." "35y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262588" "04214" "00367250" "01695" "Unknown" "" "At the age of 54, the BCVA (RE) was 0,1 and the BCVA (LE) was 0,6. At the age of 54 the fundus showed: Macular atrophy, foveal island lost in RE, foveal sparing LE. Limited yellow flecks." "35y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262589" "04214" "00367251" "01695" "Unknown" "" "At the age of 59, the BCVA (RE) was 1 and the BCVA (LE) was 1. At the age of 57 the fundus showed: Foveal sparing. Atrophy of the macular area/posterior pole." "56y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262590" "04214" "00367252" "01695" "Unknown" "" "At the age of 48, the BCVA (RE) was 0,1 and the BCVA (LE) was 0,15. At the age of 39 the fundus showed: Foveal atrophy. Limited number of small lipofuscin deposits bordering the atrophic area." "25y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262591" "04214" "00367253" "01695" "Unknown" "" "At the age of 53, the BCVA (RE) was 1 and the BCVA (LE) was 1. At the age of 52 the fundus showed: Foveal sparing. Flecks in the posterior pole." "50y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262592" "04214" "00367254" "01695" "Unknown" "" "At the age of 48, the BCVA (RE) was 0,6 and the BCVA (LE) was 0,5. At the age of 48 the fundus showed: Macular atrophy with foveal sparing. Widespread flecks." "43y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262593" "04214" "00367255" "01695" "Unknown" "" "At the age of 59, the BCVA (RE) was 0,1 and the BCVA (LE) was CF. At the age of 59 the fundus showed: Foveal atrophy. Small area. Widespread flecks towards the vascular arcades." "50y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262594" "04214" "00367256" "01695" "Unknown" "" "At the age of 60, the BCVA (RE) was 0,4 and the BCVA (LE) was 0,9. At the age of 55 the fundus showed: Macular atrophy with foveal sparing." "49y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262595" "04214" "00367257" "01695" "Unknown" "" "At the age of 67, the BCVA (RE) was 0,8 and the BCVA (LE) was 0,9. At the age of 63 the fundus showed: Macular atrophy with foveal sparing. Widespread flecks." "60y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262596" "04214" "00367258" "01695" "Unknown" "" "At the age of 65, the BCVA (RE) was 0,1 and the BCVA (LE) was 0,1. At the age of 60 the fundus showed: Macular atrophy. Widespread flecks." "22y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262597" "04214" "00367259" "01695" "Unknown" "" "At the age of 41, the BCVA (RE) was 0,15 and the BCVA (LE) was 0,15. At the age of 41 the fundus showed: Macular atrophy. Widespread flecks." "31y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262598" "04214" "00367260" "01695" "Unknown" "" "At the age of 57, the BCVA (RE) was 0,6 and the BCVA (LE) was 0,6. At the age of 49 the fundus showed: Macular atrophy with foveal sparing. Widespread flecks, peripapillary sparing." "45y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262599" "04214" "00367261" "01695" "Unknown" "" "At the age of 60, the BCVA (RE) was 1 and the BCVA (LE) was 1. At the age of 53 the fundus showed: Macular atrophy with foveal sparing. Widespread flecks." "51y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262600" "04214" "00367262" "01695" "Unknown" "" "At the age of 68, the BCVA (RE) was 0,6 and the BCVA (LE) was 0,4. At the age of 67 the fundus showed: Macular atrophy. Widespread reticular pattern of pigmentary changes." "66y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262601" "04214" "00367263" "01695" "Unknown" "" "At the age of 23, the BCVA (RE) was 0,15 and the BCVA (LE) was 0,15. At the age of 21 the fundus showed: Foveal atrophy. Limited number of flecks." "19y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262602" "04214" "00367264" "01695" "Unknown" "" "At the age of 59, the BCVA (RE) was 0,2 and the BCVA (LE) was 0,4. At the age of 55 the fundus showed: Foveal atrophy. No flecks. RPE irregularities." "30y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262603" "04214" "00367265" "01695" "Unknown" "" "At the age of 73, the BCVA (RE) was 0,5 and the BCVA (LE) was 0,6. At the age of NA the fundus showed: Fundus flavimaculatus." "55y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262604" "04214" "00367266" "01695" "Unknown" "" "At the age of 62, the BCVA (RE) was 1 and the BCVA (LE) was 0,9. At the age of 56 the fundus showed: Fundus flavimaculatus." "55y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262605" "04214" "00367267" "01695" "Unknown" "" "At the age of 77, the BCVA (RE) was CF and the BCVA (LE) was CF. At the age of 76 the fundus showed: Macular atrophy with foveal sparing. Limited number of flecks." "70y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262606" "04214" "00367268" "01695" "Unknown" "" "At the age of 63, the BCVA (RE) was NA and the BCVA (LE) was NA. At the age of NA the fundus showed: NA" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262607" "04214" "00367269" "01695" "Unknown" "" "At the age of 77, the BCVA (RE) was 0,16 and the BCVA (LE) was 0,6. At the age of NA the fundus showed: Fundus flavimaculatus." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262608" "04214" "00367270" "01695" "Unknown" "" "At the age of 75, the BCVA (RE) was CF and the BCVA (LE) was 0,6. At the age of 72 the fundus showed: Macular atrophy with foveal sparing. Widespread flecks." "59y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262609" "04214" "00367271" "01695" "Unknown" "" "At the age of 32, the BCVA (RE) was 0,4 and the BCVA (LE) was 0,3. At the age of NA the fundus showed: Macular atrophy with foveal sparing." "16y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262610" "04214" "00367272" "01695" "Unknown" "" "At the age of 53, the BCVA (RE) was 0,2 and the BCVA (LE) was 0,2. At the age of NA the fundus showed: Macular atrophy." "43y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262611" "04214" "00367273" "01695" "Unknown" "" "At the age of 78, the BCVA (RE) was CF and the BCVA (LE) was CF. At the age of 78 the fundus showed: Macular atrophy. Limited number of flecks." "63y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262612" "04214" "00367274" "01695" "Unknown" "" "At the age of 45, the BCVA (RE) was 0,6 and the BCVA (LE) was 0,3. At the age of NA the fundus showed: Fundus flavimaculatus." "33y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262613" "04214" "00367275" "01695" "Unknown" "" "At the age of 64, the BCVA (RE) was 0,2 and the BCVA (LE) was 0,15. At the age of 31 the fundus showed: Bull´s eye macula." "30y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262614" "04214" "00367276" "01695" "Unknown" "" "At the age of 76, the BCVA (RE) was LP and localisation and the BCVA (LE) was 0,05. At the age of 76 the fundus showed: Not possible, extreme photophobia." "20y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262615" "04214" "00367277" "01695" "Unknown" "" "At the age of 56, the BCVA (RE) was 0,1 and the BCVA (LE) was 0,1. At the age of NA the fundus showed: Fundus flavimaculatus." "19y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262616" "04214" "00367278" "01695" "Unknown" "" "At the age of 47, the BCVA (RE) was 0,1 and the BCVA (LE) was 0,1. At the age of NA the fundus showed: Fundus flavimaculatus. Attenuated vessels." "30y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262617" "04214" "00367279" "01695" "Unknown" "" "At the age of 87, the BCVA (RE) was 0,4 and the BCVA (LE) was <0,05. At the age of NA the fundus showed: Macular atrophy with foveal sparking RE. Flecks." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262618" "04214" "00367280" "01695" "Unknown" "" "At the age of 34, the BCVA (RE) was 0,2 and the BCVA (LE) was 0,1. At the age of NA the fundus showed: Bull´s eye macula." "24y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262619" "04214" "00367281" "01695" "Unknown" "" "At the age of 27, the BCVA (RE) was NA and the BCVA (LE) was NA. At the age of NA the fundus showed: NA" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262620" "04214" "00367282" "01695" "Unknown" "" "At the age of 71, the BCVA (RE) was CF and the BCVA (LE) was 0,05. At the age of 70 the fundus showed: Macular atrophy with foveal sparing. Widespread flecks." "20y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262621" "04214" "00367283" "01695" "Unknown" "" "At the age of 30, the BCVA (RE) was NA and the BCVA (LE) was NA. At the age of NA the fundus showed: NA" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262622" "04214" "00367284" "01695" "Unknown" "" "At the age of 41, the BCVA (RE) was NA and the BCVA (LE) was NA. At the age of NA the fundus showed: NA" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262623" "04214" "00367285" "01695" "Unknown" "" "At the age of 61, the BCVA (RE) was NA and the BCVA (LE) was NA. At the age of NA the fundus showed: NA" "37y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262624" "04214" "00367286" "01695" "Unknown" "" "At the age of 56, the BCVA (RE) was 0,08 and the BCVA (LE) was 0,08. At the age of NA the fundus showed: Fundus flavimaculatus." "18y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262625" "04214" "00367287" "01695" "Unknown" "" "The first complaints of decreased vision in patient A. emerged at the age of 18, the duration of the disease at the time of the description was 34 years old, in both eyes according to the Golovin-Sivtsev table 0.25. When examining color vision by polychrome technical tables for the study of color (E.B. Rabkina) the number of unreadable tables made 15 out of 27; 17 of 27 on right and left eyes respectively. The presence of a central absolute / relative scotoma within 5-10 ° was combined with normal peripheral field boundaries vision." "18y" "" "decreased vision" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262626" "04214" "00367288" "01695" "Unknown" "" "The first complaints of decreased vision in patients B. appeared at 5-6 years old, the duration of the disease at the time of the description was 33 years. Patients B., as well as his older sister in childhood (6 years old) was diagnosed with BSh. At the moment, the sharpness vision of both eyes 0.03. Number of unreadable tables for the study of color vision was 24 out of 27; 23 of 27 on the right and left eyes, respectively really. Pronounced decrease in light sensitivity within the studied 30 ° was combined with slight narrowing of the peripheral boundaries field of view by 5-10 °." "5y6m" "" "decreased vision" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262627" "04214" "00367289" "01695" "Unknown" "" "" "<29y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262628" "04214" "00367290" "01695" "Unknown" "" "" "<20y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262629" "04214" "00367291" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000262630" "04214" "00367292" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262631" "04214" "00367293" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262632" "04214" "00367294" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262633" "04214" "00367295" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262634" "04214" "00367296" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262635" "04214" "00367297" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262636" "04214" "00367298" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000262637" "04214" "00367299" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000262638" "04214" "00367300" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000262639" "04214" "00367301" "01695" "Unknown" "" "" "<8y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262640" "04214" "00367302" "01695" "Unknown" "" "" "<15y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262641" "04214" "00367303" "01695" "Unknown" "" "" "<16y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262642" "04214" "00367304" "01695" "Unknown" "" "" "<14y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262643" "04214" "00367305" "01695" "Unknown" "" "" "<15y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262644" "04214" "00367306" "01695" "Unknown" "" "" "<17y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262645" "04214" "00367307" "01695" "Unknown" "" "" "<9y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262646" "04214" "00367308" "01695" "Unknown" "" "" "<11y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262647" "04214" "00367309" "01695" "Unknown" "" "" "<12y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262648" "04214" "00367310" "01695" "Unknown" "" "" "<11y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262649" "04214" "00367311" "01695" "Unknown" "" "" "<8y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262650" "04214" "00367312" "01695" "Unknown" "" "" "<15y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262651" "04214" "00367313" "01695" "Unknown" "" "" "<10y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262652" "04214" "00367314" "01695" "Unknown" "" "" "<13y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262653" "04214" "00367315" "01695" "Unknown" "" "" "<11y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262654" "04214" "00367316" "01695" "Unknown" "" "" "<8y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262655" "04214" "00367317" "01695" "Unknown" "" "" "<10y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262656" "04214" "00367318" "01695" "Unknown" "" "" "<8y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262657" "04214" "00367319" "01695" "Unknown" "" "" "<11y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262658" "04214" "00367320" "01695" "Unknown" "" "" "<17y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262659" "04214" "00367321" "01695" "Unknown" "" "" "<14y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262660" "04214" "00367322" "01695" "Unknown" "" "" "<17y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262661" "04214" "00367323" "01695" "Unknown" "" "" "<16y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262662" "04214" "00367324" "01695" "Unknown" "" "" "<17y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262663" "04214" "00367325" "01695" "Unknown" "" "" "<10y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262664" "04214" "00367326" "01695" "Unknown" "" "" "<17y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262665" "04214" "00367327" "01695" "Unknown" "" "" "<6y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262666" "04214" "00367328" "01695" "Unknown" "" "" "<12y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262667" "04214" "00367329" "01695" "Unknown" "" "" "<12y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262668" "04214" "00367330" "01695" "Unknown" "" "" "<15y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262669" "04214" "00367331" "01695" "Unknown" "" "" "<12y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262670" "04214" "00367332" "01695" "Unknown" "" "" "<14y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262671" "04214" "00367333" "01695" "Unknown" "" "" "<18y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262672" "04214" "00367334" "01695" "Unknown" "" "" "<16y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262673" "04214" "00367335" "01695" "Unknown" "" "" "<8y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262674" "04214" "00367336" "01695" "Unknown" "" "" "<12y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262675" "04214" "00367337" "01695" "Unknown" "" "" "<10y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262676" "04214" "00367338" "01695" "Unknown" "" "" "<8y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262677" "04214" "00367339" "01695" "Unknown" "" "" "<12y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262678" "04214" "00367340" "01695" "Unknown" "" "" "<9y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262679" "04214" "00367341" "01695" "Unknown" "" "" "<14y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262680" "04214" "00367342" "01695" "Unknown" "" "" "<14y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262681" "04214" "00367343" "01695" "Unknown" "" "" "<16y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262682" "04214" "00367344" "01695" "Unknown" "" "" "<8y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262683" "04214" "00367345" "01695" "Unknown" "" "" "<8y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262684" "04214" "00367346" "01695" "Unknown" "" "" "<17y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262685" "04214" "00367347" "01695" "Unknown" "" "At the age of diagnosis (14), fundus abnormalities were: Bull’s eye, and BCVA was 20/200" "1y" "" "first manifestation of disease" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262686" "04214" "00367348" "01695" "Unknown" "" "At the age of diagnosis (11), fundus abnormalities were: Bull’s eye, and BCVA was 20/125" "5y" "" "first manifestation of disease" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262687" "04214" "00367349" "01695" "Unknown" "" "At the age of diagnosis (20), fundus abnormalities were: RPE alterations, and BCVA was 20/100" "16y" "" "first manifestation of disease" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262688" "04214" "00367350" "01695" "Unknown" "" "At the age of diagnosis (7), fundus abnormalities were: RPE alterations, and BCVA was 20/125" "7y" "" "first manifestation of disease" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262689" "04214" "00367351" "01695" "Unknown" "" "At the age of diagnosis (26), fundus abnormalities were: Bull’s eye, and BCVA was 20/125" "7y" "" "first manifestation of disease" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262690" "04214" "00367352" "01695" "Unknown" "" "At the age of diagnosis (23), fundus abnormalities were: RPE alterations, and BCVA was 20/30" "7y" "" "first manifestation of disease" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262691" "04214" "00367353" "01695" "Unknown" "" "At the age of diagnosis (8), fundus abnormalities were: RPE alterations, and BCVA was 20/70" "4y" "" "first manifestation of disease" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262692" "04214" "00367354" "01695" "Unknown" "" "At the age of diagnosis (10), fundus abnormalities were: RPE alterations, and BCVA was 20/20" "7y" "" "first manifestation of disease" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262693" "04214" "00367355" "01695" "Unknown" "" "At the age of diagnosis (8), fundus abnormalities were: RPE alterations, and BCVA was 20/125" "6y" "" "first manifestation of disease" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262694" "04214" "00367356" "01695" "Unknown" "" "At the age of diagnosis (10), fundus abnormalities were: Bull’s eye, and BCVA was 20/35" "3y" "" "first manifestation of disease" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262695" "04214" "00367357" "01695" "Unknown" "" "At the age of diagnosis (20), fundus abnormalities were: Bull’s eye, and BCVA was 20/80" "17y" "" "first manifestation of disease" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262696" "04214" "00367358" "01695" "Unknown" "" "At the age of diagnosis (15), fundus abnormalities were: RPE alterations, and BCVA was 20/70" "13y" "" "first manifestation of disease" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262697" "04214" "00367359" "01695" "Unknown" "" "At the age of diagnosis (10), fundus abnormalities were: RPE alterations, and BCVA was 20/80" "8y" "" "first manifestation of disease" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262698" "04214" "00367360" "01695" "Unknown" "" "At the age of diagnosis (23), fundus abnormalities were: Central fundus flecks, and BCVA was 20/35" "8y" "" "first manifestation of disease" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262699" "04214" "00367361" "01695" "Unknown" "" "At the age of diagnosis (18), fundus abnormalities were: Central fundus flecks, and BCVA was 20/100" "15y" "" "first manifestation of disease" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262700" "04214" "00367362" "01695" "Unknown" "" "At the age of diagnosis (12), fundus abnormalities were: Bull’s eye, and BCVA was 20/400" "9y" "" "first manifestation of disease" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262701" "04214" "00367363" "01695" "Unknown" "" "At the age of diagnosis (21), fundus abnormalities were: RPE alterations, and BCVA was 20/70" "16y" "" "first manifestation of disease" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262702" "04214" "00367364" "01695" "Unknown" "" "At the age of diagnosis (10), fundus abnormalities were: RPE alterations, and BCVA was 20/40" "9y" "" "first manifestation of disease" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262703" "04214" "00367365" "01695" "Unknown" "" "At the age of diagnosis (00), fundus abnormalities were: RPE alterations, and BCVA was 20/400" "6y" "" "first manifestation of disease" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262704" "04214" "00367366" "01695" "Unknown" "" "At the age of diagnosis (13), fundus abnormalities were: Central fundus flecks, and BCVA was 20/125" "11y" "" "first manifestation of disease" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262705" "04214" "00367367" "01695" "Unknown" "" "At the age of diagnosis (9), fundus abnormalities were: Bull’s eye, and BCVA was 20/125" "3y" "" "first manifestation of disease" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262706" "04214" "00367368" "01695" "Unknown" "" "At the age of diagnosis (13), fundus abnormalities were: Bull’s eye, and BCVA was 20/100" "11y" "" "first manifestation of disease" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262707" "04214" "00367369" "01695" "Unknown" "" "At the age of diagnosis (8), fundus abnormalities were: Bull’s eye, and BCVA was 20/125" "7y" "" "first manifestation of disease" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262708" "04214" "00367370" "01695" "Unknown" "" "At the age of diagnosis (11), fundus abnormalities were: RPE alterations, and BCVA was 20/70" "8y" "" "first manifestation of disease" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262709" "04214" "00367371" "01695" "Unknown" "" "At the age of diagnosis (7), fundus abnormalities were: Central fundus flecks, and BCVA was 20/35" "6y" "" "first manifestation of disease" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262710" "04214" "00367372" "01695" "Unknown" "" "At the age of diagnosis (20), fundus abnormalities were: Bull’s eye, and BCVA was 20/35" "18y" "" "first manifestation of disease" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262711" "04214" "00367373" "01695" "Unknown" "" "At the age of diagnosis (12), fundus abnormalities were: Central fundus flecks, and BCVA was 20/250" "3y" "" "first manifestation of disease" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262712" "04214" "00367374" "01695" "Unknown" "" "At the age of diagnosis (14), fundus abnormalities were: RPE alterations, and BCVA was 20/70" "13y" "" "first manifestation of disease" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262713" "04214" "00367375" "01695" "Unknown" "" "FAF and fundus results: Bull’s eye with hyperfluorescent ring, flecks until middle periphery Pallor optic disc (temporal), bull’seye maculopathy, fundus flavimaculatus" "<11y" "" "Photophobia" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262714" "04214" "00367376" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000262715" "04214" "00367377" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000262716" "04214" "00367378" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262717" "04214" "00367379" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262718" "04214" "00367380" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262719" "04214" "00367381" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262720" "04214" "00367382" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262721" "04214" "00367383" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262722" "04214" "00367384" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262723" "04214" "00367385" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262724" "04214" "00367386" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262725" "04214" "00367387" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262726" "04214" "00367388" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262727" "04214" "00367389" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262728" "04214" "00367390" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262729" "04214" "00367391" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262730" "04214" "00367392" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262731" "04214" "00367393" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262732" "04214" "00367394" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262733" "04214" "00367395" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262734" "04214" "00367396" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262735" "04214" "00367397" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262736" "04214" "00367398" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262737" "04214" "00367399" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262738" "04214" "00367400" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262739" "04214" "00367401" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262740" "04214" "00367402" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262741" "04214" "00367403" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262742" "04214" "00367404" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262743" "04214" "00367405" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262744" "04214" "00367406" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262745" "04214" "00367407" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262746" "04214" "00367408" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262747" "04214" "00367409" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262748" "04214" "00367410" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262749" "04214" "00367411" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262750" "04214" "00367412" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262751" "04214" "00367413" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262752" "04214" "00367414" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262753" "04214" "00367415" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262754" "04214" "00367416" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262755" "04214" "00367417" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262756" "04214" "00367418" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262757" "04214" "00367419" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262758" "04214" "00367420" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262759" "04214" "00367421" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262760" "04214" "00367422" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262761" "04214" "00367423" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262762" "04214" "00367424" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262763" "04214" "00367425" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262764" "04214" "00367426" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262765" "04214" "00367427" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262766" "04214" "00367428" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262767" "04214" "00367429" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262768" "04214" "00367430" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262769" "04214" "00367431" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262770" "04214" "00367432" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262771" "04214" "00367433" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262772" "04214" "00367434" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262773" "04214" "00367435" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262774" "04214" "00367436" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262775" "04214" "00367437" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262776" "04214" "00367438" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262777" "04214" "00367439" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262778" "04214" "00367440" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262779" "04214" "00367441" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262780" "04214" "00367442" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262781" "04214" "00367443" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262782" "04214" "00367444" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262783" "04214" "00367445" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262784" "04214" "00367446" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262785" "04214" "00367447" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262786" "04214" "00367448" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262787" "04214" "00367449" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262788" "04214" "00367450" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262789" "04214" "00367451" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262790" "04214" "00367452" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262791" "04214" "00367453" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262792" "04214" "00367454" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262793" "04214" "00367455" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262794" "04214" "00367456" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262795" "04214" "00367457" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262796" "04214" "00367458" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262797" "04214" "00367459" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262798" "04214" "00367460" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262799" "04214" "00367461" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262800" "04214" "00367462" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262801" "04214" "00367463" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262802" "04214" "00367464" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262803" "04214" "00367465" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262804" "04214" "00367466" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262805" "04214" "00367467" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262806" "04214" "00367468" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262807" "04214" "00367469" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262808" "04214" "00367470" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262809" "04214" "00367471" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262810" "04214" "00367472" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262811" "04214" "00367473" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262812" "04214" "00367474" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262813" "04214" "00367475" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262814" "04214" "00367476" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262815" "04214" "00367477" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262816" "04214" "00367478" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262817" "04214" "00367479" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262818" "04214" "00367480" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262819" "04214" "00367481" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262820" "04214" "00367482" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262821" "04214" "00367483" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262822" "04214" "00367484" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262823" "04214" "00367485" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262824" "04214" "00367486" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262825" "04214" "00367487" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262826" "04214" "00367488" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262827" "04214" "00367489" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262828" "04214" "00367490" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262829" "04214" "00367491" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262830" "04214" "00367492" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262831" "04214" "00367493" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262832" "04214" "00367494" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262833" "04214" "00367495" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262834" "04214" "00367496" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262835" "04214" "00367497" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262836" "04214" "00367498" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262837" "04214" "00367499" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262838" "04214" "00367500" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262839" "04214" "00367501" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262840" "04214" "00367502" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262841" "04214" "00367503" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262842" "04214" "00367504" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262843" "04214" "00367505" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262844" "04214" "00367506" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262845" "04214" "00367507" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262846" "04214" "00367508" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262847" "04214" "00367509" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262848" "04214" "00367510" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262849" "04214" "00367511" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262850" "04214" "00367512" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262851" "04214" "00367513" "01695" "Unknown" "" "" "5y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262852" "04214" "00367514" "01695" "Unknown" "" "" "9y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262853" "04214" "00367515" "01695" "Unknown" "" "" "8y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262854" "04214" "00367516" "01695" "Unknown" "" "" "7y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262855" "04214" "00367517" "01695" "Unknown" "" "" "10y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262856" "04214" "00367518" "01695" "Unknown" "" "" "8y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262857" "04214" "00367519" "01695" "Unknown" "" "" "8y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262858" "04214" "00367520" "01695" "Unknown" "" "" "5y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262859" "04214" "00367521" "01695" "Unknown" "" "" "9y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262860" "04214" "00367522" "01695" "Unknown" "" "" "8y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262861" "04214" "00367523" "01695" "Unknown" "" "" "12y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262862" "04214" "00367524" "01695" "Unknown" "" "" "5y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262863" "04214" "00367525" "01695" "Unknown" "" "" "6y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262864" "04214" "00367526" "01695" "Unknown" "" "" "7y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262865" "04214" "00367527" "01695" "Unknown" "" "" "30y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262866" "04214" "00367528" "01695" "Unknown" "" "" "33y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262867" "04214" "00367529" "01695" "Unknown" "" "" "24y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262868" "04214" "00367530" "01695" "Unknown" "" "" "21y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262869" "04214" "00367531" "01695" "Unknown" "" "" "22y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262870" "04214" "00367532" "01695" "Unknown" "" "" "18y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262871" "04214" "00367533" "01695" "Unknown" "" "" "20y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262872" "04214" "00367534" "01695" "Unknown" "" "" "20y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262873" "04214" "00367535" "01695" "Unknown" "" "At the age of 53, the BCVA (RE) was: CF and (LE) was: CF. Furthermore, there was: A large atrophic lesion at the macula, surrounding the optic nerve, scattered flecks in the fundus but extensive hyperautofluorescent flecks out to the mid periphery" "12y" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000262874" "04214" "00367536" "01695" "Unknown" "" "At the age of 53, the BCVA (RE) was: CF and (LE) was: CF. Furthermore, there was: A large atrophic lesion at the macula, surrounding the optic nerve, scattered flecks in the fundus but extensive hyperautofluorescent flecks out to the mid periphery" "10y" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000262875" "04214" "00367537" "01695" "Unknown" "" "At the age of 23, the BCVA (RE) was: CF and (LE) was: CF. Furthermore, there was: Macular pigmented scar, yellowish subretinal lesions (salt and pepper). Electroretinogram: Severely diminished responses at both scotopic and photopic conditions" "0y" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000262876" "04214" "00367538" "01695" "Unknown" "" "At the age of 33, the BCVA (RE) was: 20/150 and (LE) was: 20/150. Furthermore, there was: Mild atrophy confined to the central macula (BEM), little to no flecks Normal ffERG responses" "18y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262877" "04214" "00367539" "01695" "Unknown" "" "At the age of 37, the BCVA (RE) was: 20/25 and (LE) was: 20/32. Furthermore, there was: Macular dystrophy surrounded by rare yellow?white flecks at the level of the rinal pigment epithelium Normal ffERG responses" "28y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262878" "04214" "00367540" "01695" "Unknown" "" "At the age of 52, the BCVA (RE) was: 40/400 and (LE) was: 40/400. Furthermore, there was: Well?delineated choriorinal atrophy lesion in the macula; lesion?centric flecks and ricular flecks just beyond the vascular arcades and nasal to the optic disc (BEM) Normal ffERG responses" "12y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262879" "04214" "00367541" "01695" "Unknown" "" "At the age of 37, the BCVA (RE) was: 20/80 and (LE) was: 20/80. Furthermore, there was: Macular atrophy with yellow?white flecks at the level of the rinal pigment epithelium at the posterior pole reaching the vascular arcades Normal ffERG responses" "31y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262880" "04214" "00367542" "01695" "Unknown" "" "At the age of 49, the BCVA (RE) was: 20/160 and (LE) was: 20/200. Furthermore, there was: Classic hyper autofluorescent deposits in the posterior pole in a “riculated” pattern, including nasal to the disc with peripapillary sparing. Central atrophic changes (mottled) in both eyes with initially a patch of discre geographic atrophy that was parafoveal (RE) and multiple small patches of atrophy including foveal (LE) ffERG: normal rod responses, cone" "37y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262881" "04214" "00367543" "01695" "Unknown" "" "At the age of 41, the BCVA (RE) was: HM and (LE) was: HM. Furthermore, there was: Diffuse, widespread choriorinal atrophy across the posterior pole; paramacular bone?spicule pigment deposition Non?recordable scotopic and photopic responses (Tanaka" "8y" "" "unknown" "" "" "" "" "" "" "rapid onset chorioretinopathy" ""
"0000262882" "04214" "00367544" "01695" "Unknown" "" "At the age of 15, the BCVA (RE) was: 20/25 and (LE) was: 20/25. Furthermore, there was: Mild granular atrophy confined to the central macula" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262883" "04214" "00367545" "01695" "Unknown" "" "At the age of 21, the BCVA (RE) was: 20/400 and (LE) was: CF. Furthermore, there was: Extensive macular atrophy extending outside arcades and nasal to" "10y" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000262884" "04214" "00367546" "01695" "Unknown" "" "At the age of 41, the BCVA (RE) was: 20/800 and (LE) was: 20/800. Furthermore, there was: Fundus flavimaculatus ffERG: photopic normal with borderline latencies mfERG centrally with reduced amplitudes and normal latencies, peripherally normal" "<23y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease, classic" ""
"0000262885" "04214" "00367547" "01695" "Unknown" "" "At the age of 23, the BCVA (RE) was: LP and (LE) was: LP. Furthermore, there was: Bone spicule deposits predominant in the peripheral rina, arteriolar narrowing and waxy palor of the optic nerve head" "6y" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000262886" "04214" "00367548" "01695" "Unknown" "" "At the age of 35, the BCVA (RE) was: 21976 and (LE) was: CF. Furthermore, there was: Extensive macular atrophy extending outside arcades and nasal to disc with corresponding hypo FAF centrally, mottled peripheral rina with patchy hyper and hypo FAF throughout rina" "13y" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000262887" "04214" "00367549" "01695" "Unknown" "" "At the age of 16, the BCVA (RE) was: CF and (LE) was: LP. Furthermore, there was: Macular degeneration, severe optic atrophy Absent responses at both scotopic and photopic conditions" "6y" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000262888" "04214" "00367550" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262889" "04214" "00367551" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262890" "04214" "00367552" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262891" "04214" "00367553" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262892" "04214" "00367554" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262893" "04214" "00367555" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262894" "04214" "00367556" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262895" "04214" "00367557" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262896" "04214" "00367558" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262897" "04214" "00367559" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262898" "04214" "00367560" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262899" "04214" "00367561" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262900" "04214" "00367562" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262901" "04214" "00367563" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262902" "04214" "00367564" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262903" "04214" "00367565" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262904" "04214" "00367566" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262905" "04214" "00367567" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262906" "04214" "00367568" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262907" "04214" "00367569" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262908" "04214" "00367570" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262909" "04214" "00367571" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262910" "04214" "00367572" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262911" "04214" "00367573" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262912" "04214" "00367574" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262913" "04214" "00367575" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262914" "04214" "00367576" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262915" "04214" "00367577" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262916" "04214" "00367578" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262917" "04214" "00367579" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262918" "04214" "00367580" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262919" "04214" "00367581" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262920" "04214" "00367582" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262921" "04214" "00367583" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262922" "04214" "00367584" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262923" "04214" "00367585" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262924" "04214" "00367586" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262925" "04214" "00367587" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262926" "04214" "00367588" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262927" "04214" "00367589" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262928" "04214" "00367590" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262929" "04214" "00367591" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262930" "04214" "00367592" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262931" "04214" "00367593" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262932" "04214" "00367594" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262933" "04214" "00367595" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262934" "04214" "00367596" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262935" "04214" "00367597" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262936" "04214" "00367598" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262937" "04214" "00367599" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262938" "04214" "00367600" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262939" "04214" "00367601" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262940" "04214" "00367602" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262941" "04214" "00367603" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262942" "04214" "00367604" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262943" "04214" "00367605" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262944" "04214" "00367606" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262945" "04214" "00367607" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262946" "04214" "00367608" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262947" "04214" "00367609" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262948" "04214" "00367610" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262949" "04214" "00367611" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262950" "04214" "00367612" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262951" "04214" "00367613" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262952" "04214" "00367614" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262953" "04214" "00367615" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262954" "04214" "00367616" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262955" "04214" "00367617" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262956" "04214" "00367618" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262957" "04214" "00367619" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262958" "04214" "00367620" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262959" "04214" "00367621" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262960" "04214" "00367622" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262961" "04214" "00367623" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262962" "04214" "00367624" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262963" "04214" "00367625" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262964" "04214" "00367626" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262965" "04214" "00367627" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262966" "04214" "00367628" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262967" "04214" "00367629" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262968" "04214" "00367630" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262969" "04214" "00367631" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262970" "04214" "00367632" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262971" "04214" "00367633" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262972" "04214" "00367634" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262973" "04214" "00367635" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262974" "04214" "00367636" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262975" "04214" "00367637" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262976" "04214" "00367638" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262977" "04214" "00367639" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262978" "04214" "00367640" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262979" "04214" "00367641" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262980" "04214" "00367642" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262981" "04214" "00367643" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262982" "04214" "00367644" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262983" "04214" "00367645" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262984" "04214" "00367646" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262985" "04214" "00367647" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262986" "04214" "00367648" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262987" "04214" "00367649" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262988" "04214" "00367650" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262989" "04214" "00367651" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262990" "04214" "00367652" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262991" "04214" "00367653" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262992" "04214" "00367654" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262993" "04214" "00367655" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262994" "04214" "00367656" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262995" "04214" "00367657" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262996" "04214" "00367658" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262997" "04214" "00367659" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262998" "04214" "00367660" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000262999" "04214" "00367661" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263000" "04214" "00367662" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263001" "04214" "00367663" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263002" "04214" "00367664" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263003" "04214" "00367665" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263004" "04214" "00367666" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263005" "04214" "00367667" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263006" "04214" "00367668" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263007" "04214" "00367669" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263008" "04214" "00367670" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263009" "04214" "00367671" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263010" "04214" "00367672" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263011" "04214" "00367673" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263012" "04214" "00367674" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263013" "04214" "00367675" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263014" "04214" "00367676" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000263015" "04214" "00367677" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "maculopathy" ""
"0000263016" "04214" "00367678" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263017" "04214" "00367679" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263018" "04214" "00367680" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263019" "04214" "00367681" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263020" "04214" "00367682" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000263021" "04214" "00367683" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263022" "04214" "00367684" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263023" "04214" "00367685" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263024" "04214" "00367686" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263025" "04214" "00367687" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263026" "04214" "00367688" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263027" "04214" "00367689" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000263028" "04214" "00367690" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000263029" "04214" "00367691" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000263030" "04214" "00367692" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "maculopathy" ""
"0000263031" "04214" "00367693" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263032" "04214" "00367694" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263033" "04214" "00367695" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263034" "04214" "00367696" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263035" "04214" "00367697" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263036" "04214" "00367698" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000263037" "04214" "00367699" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263038" "04214" "00367700" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263039" "04214" "00367701" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "maculopathy" ""
"0000263040" "04214" "00367702" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263041" "04214" "00367703" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "maculopathy" ""
"0000263042" "04214" "00367704" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "maculopathy" ""
"0000263043" "04214" "00367705" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263044" "04214" "00367706" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263045" "04214" "00367707" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263046" "04214" "00367708" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263047" "04214" "00367709" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263048" "04214" "00367710" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000263049" "04214" "00367711" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000263050" "04214" "00367712" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "maculopathy" ""
"0000263051" "04214" "00367713" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "maculopathy" ""
"0000263052" "04214" "00367714" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "maculopathy" ""
"0000263053" "04214" "00367715" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263054" "04214" "00367716" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263055" "04214" "00367717" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263056" "04214" "00367718" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263057" "04214" "00367719" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000263058" "04214" "00367720" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "maculopathy" ""
"0000263059" "04214" "00367721" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263060" "04214" "00367722" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000263061" "04214" "00367723" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000263062" "04214" "00367724" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263063" "04214" "00367725" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263064" "04214" "00367726" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263065" "04214" "00367727" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263066" "04214" "00367728" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263067" "04214" "00367729" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263068" "04214" "00367730" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263069" "04214" "00367731" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263070" "04214" "00367732" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "maculopathy" ""
"0000263071" "04214" "00367733" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "maculopathy" ""
"0000263072" "04214" "00367734" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "maculopathy" ""
"0000263073" "04214" "00367735" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "maculopathy" ""
"0000263074" "04214" "00367736" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "maculopathy" ""
"0000263075" "04214" "00367737" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "maculopathy" ""
"0000263076" "04214" "00367738" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000263077" "04214" "00367739" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000263078" "04214" "00367740" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000263079" "04214" "00367741" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000263080" "04214" "00367742" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000263081" "04214" "00367743" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263082" "04214" "00367744" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263083" "04214" "00367745" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263084" "04214" "00367746" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263085" "04214" "00367747" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263086" "04214" "00367748" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263087" "04214" "00367749" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263088" "04214" "00367750" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263089" "04214" "00367751" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263090" "04214" "00367752" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263091" "04214" "00367753" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000263092" "04214" "00367754" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263093" "04214" "00367755" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263094" "04214" "00367756" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263095" "04214" "00367757" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "maculopathy" ""
"0000263096" "04214" "00367758" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263097" "04214" "00367759" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000263098" "04214" "00367760" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000263099" "04214" "00367761" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263100" "04214" "00367762" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000263101" "04214" "00367763" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263102" "04214" "00367764" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263103" "04214" "00367765" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000263104" "04214" "00367766" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "maculopathy" ""
"0000263105" "04214" "00367767" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263106" "04214" "00367768" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263107" "04214" "00367769" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "maculopathy" ""
"0000263108" "04214" "00367770" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263109" "04214" "00367771" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000263110" "04214" "00367772" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263111" "04214" "00367773" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263112" "04214" "00367774" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263113" "04214" "00367775" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263114" "04214" "00367776" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263115" "04214" "00367777" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "maculopathy" ""
"0000263116" "04214" "00367778" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "maculopathy" ""
"0000263117" "04214" "00367779" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000263118" "04214" "00367780" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000263119" "04214" "00367781" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263120" "04214" "00367782" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263121" "04214" "00367783" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263122" "04214" "00367784" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263123" "04214" "00367785" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000263124" "04214" "00367786" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000263125" "04214" "00367787" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000263126" "04214" "00367788" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263127" "04214" "00367789" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263128" "04214" "00367790" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263129" "04214" "00367791" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263130" "04214" "00367792" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263131" "04214" "00367793" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263132" "04214" "00367794" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263133" "04214" "00367795" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263134" "04214" "00367796" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263135" "04214" "00367797" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263136" "04214" "00367798" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "maculopathy" ""
"0000263137" "04214" "00367799" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000263138" "04214" "00367800" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263139" "04214" "00367801" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263140" "04214" "00367802" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "maculopathy" ""
"0000263141" "04214" "00367803" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000263142" "04214" "00367804" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263143" "04214" "00367805" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263144" "04214" "00367806" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263145" "04214" "00367807" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263146" "04214" "00367808" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263147" "04214" "00367809" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263148" "04214" "00367810" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263149" "04214" "00367811" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263150" "04214" "00367812" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263151" "04214" "00367813" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263152" "04214" "00367814" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263153" "04214" "00367815" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263154" "04214" "00367816" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263155" "04214" "00367817" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263156" "04214" "00367818" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263157" "04214" "00367819" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263158" "04214" "00367820" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263159" "04214" "00367821" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263160" "04214" "00367822" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263161" "04214" "00367823" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263162" "04214" "00367824" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263163" "04214" "00367825" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263164" "04214" "00367826" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263165" "04214" "00367827" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263166" "04214" "00367828" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263167" "04214" "00367829" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000263168" "04214" "00367830" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000263169" "04214" "00367831" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000263170" "04214" "00367832" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263171" "04214" "00367833" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "maculopathy" ""
"0000263172" "04214" "00367834" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263173" "04214" "00367835" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263174" "04214" "00367836" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "maculopathy" ""
"0000263175" "04214" "00367837" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263176" "04214" "00367838" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263177" "04214" "00367839" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263178" "04214" "00367840" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263179" "04214" "00367841" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263180" "04214" "00367842" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263181" "04214" "00367843" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263182" "04214" "00367844" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263183" "04214" "00367845" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263184" "04214" "00367846" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263185" "04214" "00367847" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263186" "04214" "00367848" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263187" "04214" "00367849" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263188" "04214" "00367850" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263189" "04214" "00367851" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263190" "04214" "00367852" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263191" "04214" "00367853" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263192" "04214" "00367854" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263193" "04214" "00367855" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263194" "04214" "00367856" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263195" "04214" "00367857" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263196" "04214" "00367858" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263197" "04214" "00367859" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263198" "04214" "00367860" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263199" "04214" "00367861" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263200" "04214" "00367862" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263201" "04214" "00367863" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263202" "04214" "00367864" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263203" "04214" "00367865" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263204" "04214" "00367866" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263205" "04214" "00367867" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263206" "04214" "00367868" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263207" "04214" "00367869" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263208" "04214" "00367870" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263209" "04214" "00367871" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263210" "04214" "00367872" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263211" "04214" "00367873" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263212" "04214" "00367874" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263213" "04214" "00367875" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263214" "04214" "00367876" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263215" "04214" "00367877" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263216" "04214" "00367878" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263217" "04214" "00367879" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263218" "04214" "00367880" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263219" "04214" "00367881" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263220" "04214" "00367882" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263221" "04214" "00367883" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263222" "04214" "00367884" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263223" "04214" "00367885" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263224" "04214" "00367886" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263225" "04214" "00367887" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263226" "04214" "00367888" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263227" "04214" "00367889" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263228" "04214" "00367890" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263229" "04214" "00367891" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "maculopathy" ""
"0000263230" "04214" "00367892" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "maculopathy" ""
"0000263231" "04214" "00367893" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "maculopathy" ""
"0000263232" "04214" "00367894" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "maculopathy" ""
"0000263233" "04214" "00367895" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "maculopathy" ""
"0000263234" "04214" "00367896" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "maculopathy" ""
"0000263235" "04214" "00367897" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "maculopathy" ""
"0000263236" "04214" "00367898" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "maculopathy" ""
"0000263237" "04214" "00367899" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "maculopathy" ""
"0000263238" "04214" "00367900" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "maculopathy" ""
"0000263239" "04214" "00367901" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "maculopathy" ""
"0000263240" "04214" "00367902" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "maculopathy" ""
"0000263241" "04214" "00367903" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "maculopathy" ""
"0000263242" "04214" "00367904" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "maculopathy" ""
"0000263243" "04214" "00367905" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "maculopathy" ""
"0000263244" "04214" "00367906" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "maculopathy" ""
"0000263245" "04214" "00367907" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "maculopathy" ""
"0000263246" "04214" "00367908" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "maculopathy" ""
"0000263247" "04214" "00367909" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "maculopathy" ""
"0000263248" "04214" "00367910" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "maculopathy" ""
"0000263249" "04214" "00367911" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "maculopathy" ""
"0000263250" "04214" "00367912" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "maculopathy" ""
"0000263251" "04214" "00367913" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "maculopathy" ""
"0000263252" "04214" "00367914" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000263253" "04214" "00367915" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000263254" "04214" "00367916" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000263255" "04214" "00367917" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000263256" "04214" "00367918" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000263257" "04214" "00367919" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000263258" "04214" "00367920" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000263259" "04214" "00367921" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000263260" "04214" "00367922" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000263261" "04214" "00367923" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000263262" "04214" "00367924" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000263263" "04214" "00367925" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "maculopathy" ""
"0000263264" "04214" "00367926" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000263265" "04214" "00367927" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263266" "04214" "00367928" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263267" "04214" "00367929" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263268" "04214" "00367930" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263269" "04214" "00367931" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263270" "04214" "00367932" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263271" "04214" "00367933" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263272" "04214" "00367934" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263273" "04214" "00367935" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263274" "04214" "00367936" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263275" "04214" "00367937" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263276" "04214" "00367938" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000263277" "04214" "00367939" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263278" "04214" "00367940" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263279" "04214" "00367941" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263280" "04214" "00367942" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263281" "04214" "00367943" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263282" "04214" "00367944" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263283" "04214" "00367945" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263284" "04214" "00367946" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263285" "04214" "00367947" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263286" "04214" "00367948" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000263287" "04214" "00367949" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000263288" "04214" "00367950" "01695" "Unknown" "" "At the age of 18, the visual acuity in the right eye was 0.30 and in the left eye was 0.22." "14y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263289" "04214" "00367951" "01695" "Unknown" "" "At the age of 45, the visual acuity in the right eye was 2.00 and in the left eye was N/A." "7y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263290" "04214" "00367952" "01695" "Unknown" "" "At the age of 19, the visual acuity in the right eye was 2.00 and in the left eye was 1.70." "6y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263291" "04214" "00367953" "01695" "Unknown" "" "At the age of 18, the visual acuity in the right eye was 0.38 and in the left eye was 0.38." "18y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263292" "04214" "00367954" "01695" "Unknown" "" "At the age of 25, the visual acuity in the right eye was 0.90 and in the left eye was 1.00." "23y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263293" "04214" "00367955" "01695" "Unknown" "" "At the age of 6, the visual acuity in the right eye was 0.30 and in the left eye was 0.30." "6y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263294" "04214" "00367956" "01695" "Unknown" "" "At the age of 8, the visual acuity in the right eye was 0.72 and in the left eye was 0.72." "8y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263295" "04214" "00367957" "01695" "Unknown" "" "At the age of 63, the visual acuity in the right eye was 1.52 and in the left eye was 1.30." "13y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263296" "04214" "00367958" "01695" "Unknown" "" "At the age of 65, the visual acuity in the right eye was 2.30 and in the left eye was 2.30." "16y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263297" "04214" "00367959" "01695" "Unknown" "" "At the age of 19, the visual acuity in the right eye was 0.12 and in the left eye was 0.10." "26y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263298" "04214" "00367960" "01695" "Unknown" "" "At the age of 20, the visual acuity in the right eye was 0.70 and in the left eye was 1.00." "20y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263299" "04214" "00367961" "01695" "Unknown" "" "At the age of 25, the visual acuity in the right eye was 0.70 and in the left eye was 0.70." "25y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263300" "04214" "00367962" "01695" "Unknown" "" "At the age of 5, the visual acuity in the right eye was 0.60 and in the left eye was 0.50." "5y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263301" "04214" "00367963" "01695" "Unknown" "" "At the age of 8, the visual acuity in the right eye was 1.20 and in the left eye was 1.30." "9y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263302" "04214" "00367964" "01695" "Unknown" "" "At the age of 34, the visual acuity in the right eye was 0.10 and in the left eye was 0.10." "30y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263303" "04214" "00367965" "01695" "Unknown" "" "At the age of 23, the visual acuity in the right eye was 0.30 and in the left eye was 0.90." "14y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263304" "04214" "00367966" "01695" "Unknown" "" "At the age of 4, the visual acuity in the right eye was 0.10 and in the left eye was 0.10." "4y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263305" "04214" "00367967" "01695" "Unknown" "" "At the age of 6, the visual acuity in the right eye was 0.20 and in the left eye was 0.20." "10y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263306" "04214" "00367968" "01695" "Unknown" "" "At the age of 22, the visual acuity in the right eye was 0.70 and in the left eye was 0.30." "15y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263307" "04214" "00367969" "01695" "Unknown" "" "At the age of 50, the visual acuity in the right eye was e0.20 and in the left eye was e0.20." "54y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263308" "04214" "00367970" "01695" "Unknown" "" "At the age of 12, the visual acuity in the right eye was 0.06 and in the left eye was 0.16." "12y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263309" "04214" "00367971" "01695" "Unknown" "" "At the age of 25, the visual acuity in the right eye was 0.88 and in the left eye was 0.70." "17y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263310" "04214" "00367972" "01695" "Unknown" "" "At the age of 41, the visual acuity in the right eye was 1.70 and in the left eye was 1.70." "15y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263311" "04214" "00367973" "01695" "Unknown" "" "At the age of 57, the visual acuity in the right eye was 0.00 and in the left eye was 0.05." "55y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263312" "04214" "00367974" "01695" "Unknown" "" "At the age of 66, the visual acuity in the right eye was 0.30 and in the left eye was 0.50." "59y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263313" "04214" "00367975" "01695" "Unknown" "" "At the age of 21, the visual acuity in the right eye was 0.30 and in the left eye was 0.10." "26y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263314" "04214" "00367976" "01695" "Unknown" "" "At the age of 8, the visual acuity in the right eye was 0.22 and in the left eye was ." "13y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263315" "04214" "00367977" "01695" "Unknown" "" "At the age of 11, the visual acuity in the right eye was 1.00 and in the left eye was 1.00." "14y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263316" "04214" "00367978" "01695" "Unknown" "" "At the age of 9, the visual acuity in the right eye was 1.00 and in the left eye was 1.00." "6y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263317" "04214" "00367979" "01695" "Unknown" "" "At the age of 9, the visual acuity in the right eye was 0.12 and in the left eye was 0.12." "9y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263318" "04214" "00367980" "01695" "Unknown" "" "At the age of 9, the visual acuity in the right eye was 0.10 and in the left eye was 0.10." "17y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263319" "04214" "00367981" "01695" "Unknown" "" "At the age of 9, the visual acuity in the right eye was 0.10 and in the left eye was 0.10." "17y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263320" "04214" "00367982" "01695" "Unknown" "" "At the age of 10, the visual acuity in the right eye was 0.10 and in the left eye was 0.10." "10y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263321" "04214" "00367983" "01695" "Unknown" "" "" "6y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263322" "04214" "00367984" "01695" "Unknown" "" "" "8y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263323" "04214" "00367985" "01695" "Unknown" "" "" "14y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263324" "04214" "00367986" "01695" "Unknown" "" "" "20y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263325" "04214" "00367987" "01695" "Unknown" "" "" "13y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263326" "04214" "00367988" "01695" "Unknown" "" "" "13y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263327" "04214" "00367989" "01695" "Unknown" "" "" "35y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263328" "04214" "00367990" "01695" "Unknown" "" "" "7y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263329" "04214" "00367991" "01695" "Unknown" "" "" "15y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263330" "04214" "00367992" "01695" "Unknown" "" "" "30y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263331" "04214" "00367993" "01695" "Unknown" "" "" "25y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263332" "04214" "00367994" "01695" "Unknown" "" "" "11y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263333" "04214" "00367995" "01695" "Unknown" "" "" "8y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263334" "04214" "00367996" "01695" "Unknown" "" "" "10y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263335" "04214" "00367997" "01695" "Unknown" "" "" "6y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263336" "04214" "00367998" "01695" "Unknown" "" "" "4y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263337" "04214" "00367999" "01695" "Unknown" "" "" "6y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263338" "04214" "00368000" "01695" "Unknown" "" "" "6y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263339" "04214" "00368001" "01695" "Unknown" "" "" "6y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263340" "04214" "00368002" "01695" "Unknown" "" "" "10y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263341" "04214" "00368003" "01695" "Unknown" "" "" "11y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263342" "04214" "00368004" "01695" "Unknown" "" "" "19y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263343" "04214" "00368005" "01695" "Unknown" "" "" "15y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263344" "04214" "00368006" "01695" "Unknown" "" "" "7y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263345" "04214" "00368007" "01695" "Unknown" "" "" "14y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263346" "04214" "00368008" "01695" "Unknown" "" "" "3y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263347" "04214" "00368009" "01695" "Unknown" "" "" "27y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263348" "04214" "00368010" "01695" "Unknown" "" "At the age of 11, the BCVA (OD, OS) was 0.05, 0.5. OCT results were: Macular atrophy and FAF results were: Hypofluorescent lesions." "5y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263349" "04214" "00368011" "01695" "Unknown" "" "" "5y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263350" "04214" "00368012" "01695" "Unknown" "" "" "9y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263351" "04214" "00368013" "01695" "Unknown" "" "" "14y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263352" "04214" "00368014" "01695" "Unknown" "" "" "39y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263353" "04214" "00368015" "01695" "Unknown" "" "" "12y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263354" "04214" "00368016" "01695" "Unknown" "" "" "18y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263355" "04214" "00368017" "01695" "Unknown" "" "" "20y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263356" "04214" "00368018" "01695" "Unknown" "" "" "55y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263357" "04214" "00368019" "01695" "Unknown" "" "" "26y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263358" "04214" "00368020" "01695" "Unknown" "" "At the age of 31, the BCVA (OD, OS) was 0.1, 0.1. OCT results were: Macular atrophy and FAF results were: Hypofluorescent lesions." "8y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263359" "04214" "00368021" "01695" "Unknown" "" "" "10y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263360" "04214" "00368022" "01695" "Unknown" "" "" "8y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263361" "04214" "00368023" "01695" "Unknown" "" "" "8y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263362" "04214" "00368024" "01695" "Unknown" "" "At the age of 45, the BCVA (OD, OS) was 0.1, 0.1. OCT results were: Macular atrophy and FAF results were: Hypofluorescent lesions." "25y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263363" "04214" "00368025" "01695" "Unknown" "" "" "30y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263364" "04214" "00368026" "01695" "Unknown" "" "" "6y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263365" "04214" "00368027" "01695" "Unknown" "" "" "11y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263366" "04214" "00368028" "01695" "Unknown" "" "" "6y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263367" "04214" "00368029" "01695" "Unknown" "" "" "30y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263368" "04214" "00368030" "01695" "Unknown" "" "" "20y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263369" "04214" "00368031" "01695" "Unknown" "" "" "6y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263370" "04214" "00368032" "01695" "Unknown" "" "" "5y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263371" "04214" "00368033" "01695" "Unknown" "" "" "20y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263372" "04214" "00368034" "01695" "Unknown" "" "" "13y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263373" "04214" "00368035" "01695" "Unknown" "" "" "10y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263374" "04214" "00368036" "01695" "Unknown" "" "" "18y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263375" "04214" "00368037" "01695" "Unknown" "" "" "10y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263376" "04214" "00368038" "01695" "Unknown" "" "" "10y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263377" "04214" "00368039" "01695" "Unknown" "" "" "10y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263378" "04214" "00368040" "01695" "Unknown" "" "At the age of 10, the BCVA (OD, OS) was 0.1, 0.15. OCT results were: Macular atrophy and FAF results were: Hypofluorescent lesions." "9y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263379" "04214" "00368041" "01695" "Unknown" "" "" "33y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263380" "04214" "00368042" "01695" "Unknown" "" "" "20y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263381" "04214" "00368043" "01695" "Unknown" "" "" "23y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263382" "04214" "00368044" "01695" "Unknown" "" "" "20y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263383" "04214" "00368045" "01695" "Unknown" "" "At the age of 37, the BCVA (OD, OS) was 0.6, 0.1. OCT results were: Macular atrophy and FAF results were: Hypofluorescent lesions." "15y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263384" "04214" "00368046" "01695" "Unknown" "" "" "25y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263385" "04214" "00368047" "01695" "Unknown" "" "" "35y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263386" "04214" "00368048" "01695" "Unknown" "" "At the age of 42, the BCVA (OD, OS) was 0.6, 0.8. OCT results were: Macular atrophy and FAF results were: Hypofluorescent lesions." "2y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263387" "04214" "00368049" "01695" "Unknown" "" "" "41y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263388" "04214" "00368050" "01695" "Unknown" "" "" "35y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263389" "04214" "00368051" "01695" "Unknown" "" "" "30y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263390" "04214" "00368052" "01695" "Unknown" "" "" "7y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263391" "04214" "00368053" "01695" "Unknown" "" "" "35y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263392" "04214" "00368054" "01695" "Unknown" "" "" "15y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263393" "04214" "00368055" "01695" "Unknown" "" "" "49y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263394" "04214" "00368056" "01695" "Unknown" "" "" "5y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263395" "04214" "00368057" "01695" "Unknown" "" "" "20y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263396" "04214" "00368058" "01695" "Unknown" "" "At the age of 34, the BCVA (OD, OS) was 0.5, 0.5. OCT results were: Macular atrophy and FAF results were: Hypofluorescent lesions." "29y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263397" "04214" "00368059" "01695" "Unknown" "" "" "23y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263398" "04214" "00368060" "01695" "Unknown" "" "" "65y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263399" "04214" "00368061" "01695" "Unknown" "" "" "15y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263400" "04214" "00368062" "01695" "Unknown" "" "" "10y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263401" "04214" "00368063" "01695" "Unknown" "" "" "9y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263402" "04214" "00368064" "01695" "Unknown" "" "" "9y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263403" "04214" "00368065" "01695" "Unknown" "" "At the age of 53, the BCVA (OD, OS) was 0.1, 0.1. OCT results were: Macular atrophy and FAF results were: Hypofluorescent lesions." "42y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263404" "04214" "00368066" "01695" "Unknown" "" "" "7y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263405" "04214" "00368067" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263406" "04214" "00368068" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263407" "04214" "00368069" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263408" "04214" "00368070" "01695" "Unknown" "" "" "6y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263409" "04214" "00368071" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263410" "04214" "00368072" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263411" "04214" "00368073" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263412" "04214" "00368074" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263413" "04214" "00368075" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263414" "04214" "00368076" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263415" "04214" "00368077" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263416" "04214" "00368078" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263417" "04214" "00368079" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263418" "04214" "00368080" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263419" "04214" "00368081" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263420" "04214" "00368082" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263421" "04214" "00368083" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263422" "04214" "00368084" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263423" "04214" "00368085" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263424" "04214" "00368086" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263425" "04214" "00368087" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263426" "04214" "00368088" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263427" "04214" "00368089" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263428" "04214" "00368090" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263429" "04214" "00368091" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263430" "04214" "00368092" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263431" "04214" "00368093" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263432" "04214" "00368094" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263433" "04214" "00368095" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263434" "04214" "00368096" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263435" "04214" "00368097" "01695" "Familial, autosomal recessive" "" "A 7-year-old female patient (III-1, JU#1540, daughter of the proband), who complained of congenital night blindness, was evaluated because of progressive deterioration of visual acuity. Her decimal BCVA was 0.35 (+ 2.50 diopter sphere) in the right and 0.2 (+ 3.25 diopter sphere) in the left eye, although her BCVA was nearly 1.0 at 5 years of age. Slit-lamp examination showed no remarkable findings. Retinal examination revealed gray discoloration within the vascular arcade in the fundus photographs, hypoautofluorescent macular area with a hyperautofluorescent ring in FAF, and disrupted ellipsoid zone (EZ) with foveal thinning in OCT). Dark-adapted FFERG of the right eye showed non-recordable rod response to a weak flash (DA 0.01), severely decreased a- and b-wave responses to a strong flash (DA 3.0), but notably about one-third of normal response to a stronger flash (DA 200)." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263436" "04214" "00368098" "01695" "Familial, autosomal recessive" "" "A 5-year-old male patient (III-2, #JU1566, son of the proband), who complained of congenital night blindness, was evaluated. At 5 years of age, his BCVA was 0.7 (+ 0.25 diopter sphere) in the right and 0.7 (+ 0.25 diopter sphere) in the left eye. Slit-lamp and funduscopy examination showed no remarkable findings. FAF showed a hyperautofluorescent ring around the macula. OCT showed a thickened external limiting membrane (ELM). Later, when he was 6 years, 8 months of age, his BCVA decreased to 0.1 in the right and 0.15 in the left eye. Surprisingly, OCT revealed disappearance of the thickened ELM and thinner foveal thickness compared to that at 5 years of age, demonstrating progressive loss of visual acuity. Darkadapted FF-ERG findings were essentially very similar to those of patient III-1 (JU#1540). The photopic cone (LA 3.0) and 30-Hz flicker (LA 3.0 flicker) responses were severely decreased, consistent with known features of CORD." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263437" "04214" "00368099" "01695" "Unknown" "" "BCVA was 0.2 (OD) and 0.2 (OS)." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263438" "04214" "00368100" "01695" "Unknown" "" "BCVA was 0.2 (OD) and 0.2 (OS)." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263439" "04214" "00368101" "01695" "Unknown" "" "BCVA was 0.1 (OD) and 0.1 (OS)." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263440" "04214" "00368102" "01695" "Unknown" "" "BCVA was 0.8 (OD) and 0.8 (OS)." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263441" "04214" "00368103" "01695" "Unknown" "" "BCVA was 1.0 (OD) and 1.0 (OS)." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263442" "04214" "00368104" "01695" "Unknown" "" "BCVA was 0.2 (OD) and 0.2 (OS)." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263443" "04214" "00368105" "01695" "Unknown" "" "BCVA was 0.1 (OD) and 0.1 (OS)." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263444" "04214" "00368106" "01695" "Unknown" "" "BCVA was 0.1 (OD) and 0.1 (OS)." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263445" "04214" "00368107" "01695" "Unknown" "" "BCVA was 0.1 (OD) and 0.1 (OS)." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263446" "04214" "00368108" "01695" "Unknown" "" "BCVA was 0.1 (OD) and 0.9 (OS)." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263447" "04214" "00368109" "01695" "Unknown" "" "BCVA was 0.1 (OD) and 0.1 (OS)." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263448" "04214" "00368110" "01695" "Unknown" "" "BCVA was 0.1 (OD) and 0.1 (OS)." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263449" "04214" "00368111" "01695" "Unknown" "" "BCVA was 0.2 (OD) and 0.2 (OS)." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263450" "04214" "00368112" "01695" "Unknown" "" "BCVA was 0.2 (OD) and 0.2 (OS)." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263451" "04214" "00368113" "01695" "Unknown" "" "BCVA was 0.1 (OD) and 0.5 (OS)." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263452" "04214" "00368114" "01695" "Unknown" "" "BCVA was 0.1 (OD) and 0.1 (OS)." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263453" "04214" "00368115" "01695" "Unknown" "" "BCVA was 0.1 (OD) and 0.2 (OS)." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263454" "04214" "00368116" "01695" "Unknown" "" "BCVA was 0.2 (OD) and 0.2 (OS)." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263455" "04214" "00368117" "01695" "Unknown" "" "BCVA was 0.3 (OD) and 0.3 (OS)." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263456" "04214" "00368118" "01695" "Unknown" "" "BCVA was 0.4 (OD) and 0.4 (OS)." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263457" "04214" "00368119" "01695" "Unknown" "" "BCVA was 0.2 (OD) and 0.2 (OS)." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263458" "04214" "00368120" "01695" "Unknown" "" "BCVA was 0.1 (OD) and 0.2 (OS)." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263459" "04214" "00368121" "01695" "Unknown" "" "BCVA was 0.1 (OD) and 0.1 (OS)." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263460" "04214" "00368122" "01695" "Unknown" "" "BCVA was 0.3 (OD) and 0.3 (OS)." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263461" "04214" "00368123" "01695" "Unknown" "" "BCVA was 0.1 (OD) and 0.5 (OS)." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263462" "04214" "00368124" "01695" "Unknown" "" "BCVA was 0.4 (OD) and 0.4 (OS)." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263463" "04214" "00368125" "01695" "Unknown" "" "BCVA was 0.8 (OD) and 0.1 (OS)." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263464" "04214" "00368126" "01695" "Unknown" "" "BCVA was 0.3 (OD) and 0.3 (OS)." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263465" "04214" "00368127" "01695" "Unknown" "" "BCVA was 0.3 (OD) and 0.3 (OS)." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263466" "04214" "00368128" "01695" "Unknown" "" "BCVA was 0.1 (OD) and 0.5 (OS)." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263467" "04214" "00368129" "01695" "Unknown" "" "BCVA was 0.9 (OD) and 0.9 (OS)." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263468" "04214" "00368130" "01695" "Isolated (sporadic)" "" "At the age of 46, BCVA OD was: 0.3, BCVA OS was: FC and the fundus showed: beaten bronze-appearance, yellowish flecks, macular degeneration" "12y" "" "vision decline" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263469" "04214" "00368131" "01695" "Familial, autosomal recessive" "" "At the age of 30, BCVA OD was: 0.15, BCVA OS was: 0.1 and the fundus showed: yellowish flecks, macular degeneration" "13y" "" "vision decline" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263470" "04214" "00368132" "01695" "Familial, autosomal recessive" "" "At the age of 11, BCVA OD was: 0.15, BCVA OS was: 0.2 and the fundus showed: macular degeneration" "10y" "" "vision decline" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263471" "04214" "00368133" "01695" "Familial, autosomal recessive" "" "At the age of 20, BCVA OD was: 0.5, BCVA OS was: 0.5 and the fundus showed: beaten bronze-appearance, yellowish flecks, Bull\'s eye maculopathy, macular degeneration" "14y" "" "vision decline" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263472" "04214" "00368134" "01695" "Isolated (sporadic)" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263473" "04214" "00368135" "01695" "Familial, autosomal recessive" "" "At the age of 8, BCVA OD was: 0.1, BCVA OS was: 0.1 and the fundus showed: Bull\'s eye maculopathy, macular degeneration" "7y" "" "vision decline" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263474" "04214" "00368136" "01695" "Familial, autosomal recessive" "" "At the age of 8, BCVA OD was: 0.3, BCVA OS was: 0.3 and the fundus showed: yellowish flecks, Bull\'s eye maculopathy, macular degeneration" "4y" "" "vision decline" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263475" "04214" "00368137" "01695" "Familial, autosomal recessive" "" "At the age of 25, BCVA OD was: 0.1, BCVA OS was: 0.1 and the fundus showed: beaten bronze-appearance, yellowish flecks, Bull\'s eye maculopathy, macular degeneration" "7y" "" "vision decline" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263476" "04214" "00368138" "01695" "Familial, autosomal recessive" "" "At the age of 10, BCVA OD was: 0.05, BCVA OS was: 0.05 and the fundus showed: Bull\'s eye maculopathy, macular degeneration" "9y" "" "vision decline" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263477" "04214" "00368139" "01695" "Isolated (sporadic)" "" "Visual acuity was 20/200 in the right eye and 20/40 in the left eye after correcting for moderate refractive error (?6.5 ? 0.25 × 50 right eye; ?6.25 ? 0.25 × 190 left eye). Intro-ocular pressures (IOP) were 12 mmHg and optic cup-to-disk ratios 0.2 in both eyes. Slit-lamp examination of the anterior segment was unremarkable. Dilated fundus examination found granular mottling of the retinal pigment epithelium (RPE) and welldelineated lesions of chorioretinal atrophy in both eyes. Fundus autofluorescence (FAF) imaging confirmed the presence of bright granular deposition corresponding to the RPE mottling observed on fundoscopy. Peripapillary sparing of disease changes around the optic nerve, a pathognomonic feature of ABCA4, was noted in both eyes." "30y" "" "central vision loss" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263478" "04214" "00368140" "01695" "Unknown" "" "" "8y" "" "symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263479" "04214" "00368141" "01695" "Unknown" "" "" "16y" "" "symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263480" "04214" "00368142" "01695" "Unknown" "" "" "12y" "" "symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263481" "04214" "00368143" "01695" "Unknown" "" "" "5y" "" "symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263482" "04214" "00368144" "01695" "Unknown" "" "" "5y" "" "symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263483" "04214" "00368145" "01695" "Unknown" "" "" "9y" "" "symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263484" "04214" "00368146" "01695" "Unknown" "" "" "7y" "" "symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263485" "04214" "00368147" "01695" "Unknown" "" "" "10y" "" "symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263486" "04214" "00368148" "01695" "Unknown" "" "" "5y" "" "symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263487" "04214" "00368149" "01695" "Unknown" "" "" "9y" "" "symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263488" "04214" "00368150" "01695" "Unknown" "" "" "8y" "" "symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263489" "04214" "00368151" "01695" "Unknown" "" "" "6y" "" "symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263490" "04214" "00368152" "01695" "Unknown" "" "" "6y" "" "symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263491" "04214" "00368153" "01695" "Unknown" "" "" "6y" "" "symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263492" "04214" "00368154" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263493" "04214" "00368155" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263494" "04214" "00368156" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263495" "04214" "00368157" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263496" "04214" "00368158" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263497" "04214" "00368159" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263560" "04214" "00368222" "01695" "Unknown" "" "At the age of 23, the BCVA OD was 2(logMAR) and BCVA OS was 2(logMAR). Fishman category was 1 (macular pigmentary changes and irregular pigmentary spots (flecks) located within one disc diameter of the fovea)" "15y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263561" "04214" "00368223" "01695" "Unknown" "" "At the age of 23, the BCVA OD was 1.3(logMAR) and BCVA OS was 1(logMAR). Fishman category was 1 (macular pigmentary changes and irregular pigmentary spots (flecks) located within one disc diameter of the fovea)" "17y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263562" "04214" "00368224" "01695" "Unknown" "" "At the age of 27, the BCVA OD was 1(logMAR) and BCVA OS was 1(logMAR). Fishman category was 1 (macular pigmentary changes and irregular pigmentary spots (flecks) located within one disc diameter of the fovea)" "23y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263563" "04214" "00368225" "01695" "Unknown" "" "At the age of 28, the BCVA OD was 1(logMAR) and BCVA OS was 1(logMAR). Fishman category was 1 (macular pigmentary changes and irregular pigmentary spots (flecks) located within one disc diameter of the fovea)" "24y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263564" "04214" "00368226" "01695" "Unknown" "" "At the age of 39, the BCVA OD was 1.3(logMAR) and BCVA OS was 1(logMAR). Fishman category was 1 (macular pigmentary changes and irregular pigmentary spots (flecks) located within one disc diameter of the fovea)" "31y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263565" "04214" "00368227" "01695" "Unknown" "" "At the age of 37, the BCVA OD was 0.3(logMAR) and BCVA OS was 0.1(logMAR). Fishman category was 1 (macular pigmentary changes and irregular pigmentary spots (flecks) located within one disc diameter of the fovea)" "36y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263566" "04214" "00368228" "01695" "Unknown" "" "At the age of 52, the BCVA OD was 1(logMAR) and BCVA OS was 1(logMAR). Fishman category was 1 (macular pigmentary changes and irregular pigmentary spots (flecks) located within one disc diameter of the fovea)" "42y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263567" "04214" "00368229" "01695" "Unknown" "" "At the age of 49, the BCVA OD was 0.3(logMAR) and BCVA OS was 0.1(logMAR). Fishman category was 1 (macular pigmentary changes and irregular pigmentary spots (flecks) located within one disc diameter of the fovea)" "48y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263568" "04214" "00368230" "01695" "Unknown" "" "At the age of 22, the BCVA OD was 1(logMAR) and BCVA OS was 1(logMAR). Fishman category was 1 (macular pigmentary changes and irregular pigmentary spots (flecks) located within one disc diameter of the fovea)" "13y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263569" "04214" "00368231" "01695" "Unknown" "" "At the age of 25, the BCVA OD was 1(logMAR) and BCVA OS was 1(logMAR). Fishman category was 1 (macular pigmentary changes and irregular pigmentary spots (flecks) located within one disc diameter of the fovea)" "14y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263570" "04214" "00368232" "01695" "Unknown" "" "At the age of 23, the BCVA OD was 0.6(logMAR) and BCVA OS was 0.6(logMAR). Fishman category was 2 (pigmentary changes and pisciform flecks are located beyond the vascular arcades temporally and often extend nasally to the optic disc)" "21y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263571" "04214" "00368233" "01695" "Unknown" "" "At the age of 28, the BCVA OD was 2(logMAR) and BCVA OS was 2(logMAR). Fishman category was 3 (resorption of previously diagnosed flecks resulting in focal CC and RPE atrophy of the macula)" "19y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263572" "04214" "00368234" "01695" "Unknown" "" "At the age of 40, the BCVA OD was 0.9(logMAR) and BCVA OS was 0.9(logMAR). Fishman category was 3 (resorption of previously diagnosed flecks resulting in focal CC and RPE atrophy of the macula)" "23y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263573" "04214" "00368235" "01695" "Unknown" "" "At the age of 74, the BCVA OD was 1.3(logMAR) and BCVA OS was 1.3(logMAR). Fishman category was 3 (resorption of previously diagnosed flecks resulting in focal CC and RPE atrophy of the macula)" "27y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263574" "04214" "00368236" "01695" "Unknown" "" "At the age of 30, the BCVA OD was 1.3(logMAR) and BCVA OS was 1.3(logMAR). Fishman category was 3 (resorption of previously diagnosed flecks resulting in focal CC and RPE atrophy of the macula)" "27y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263575" "04214" "00368237" "01695" "Unknown" "" "At the age of 52, the BCVA OD was 1.3(logMAR) and BCVA OS was 1.3(logMAR). Fishman category was 3 (resorption of previously diagnosed flecks resulting in focal CC and RPE atrophy of the macula)" "25y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263576" "04214" "00368238" "01695" "Unknown" "" "At the age of 59, the BCVA OD was ?0.1(logMAR) and BCVA OS was 0.1(logMAR). Fishman category was 3 (resorption of previously diagnosed flecks resulting in focal CC and RPE atrophy of the macula)" "50y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263577" "04214" "00368239" "01695" "Unknown" "" "At the age of 52, the BCVA OD was 2.3(logMAR) and BCVA OS was 2.3(logMAR). Fishman category was 4 (diffusely absorbed flecks and extensive CC and RPE atrophy throughout the entire central fundus)" "14y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263578" "04214" "00368240" "01695" "Unknown" "" "At the age of 40, the BCVA OD was 2(logMAR) and BCVA OS was 2(logMAR). Fishman category was 1 (macular pigmentary changes and irregular pigmentary spots (flecks) located within one disc diameter of the fovea)" "10y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263579" "04214" "00368241" "01695" "Unknown" "" "At the age of 18, the BCVA OD was 1.3(logMAR) and BCVA OS was 1(logMAR). Fishman category was 2 (pigmentary changes and pisciform flecks are located beyond the vascular arcades temporally and often extend nasally to the optic disc)" "9y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263580" "04214" "00368242" "01695" "Unknown" "" "At the age of 23, the BCVA OD was 1.3(logMAR) and BCVA OS was 1.3(logMAR). Fishman category was 2 (pigmentary changes and pisciform flecks are located beyond the vascular arcades temporally and often extend nasally to the optic disc)" "14y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263581" "04214" "00368243" "01695" "Unknown" "" "At the age of 51, the BCVA OD was 1.2(logMAR) and BCVA OS was 1.1(logMAR). Fishman category was 3 (resorption of previously diagnosed flecks resulting in focal CC and RPE atrophy of the macula)" "22y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263582" "04214" "00368244" "01695" "Unknown" "" "At the age of 57, the BCVA OD was 0.9(logMAR) and BCVA OS was 0.8(logMAR). Fishman category was 3 (resorption of previously diagnosed flecks resulting in focal CC and RPE atrophy of the macula)" "27y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263583" "04214" "00368245" "01695" "Unknown" "" "At the age of 28, BCVA (Right eye) was 20/250 (Snellen) and BCVA (Left eye) was HM. Fundus showed: Flecks, macular atrophy, Dark choroid" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263584" "04214" "00368246" "01695" "Unknown" "" "At the age of 23, BCVA (Right eye) was 20/500 (Snellen) and BCVA (Left eye) was 20/320. Fundus showed: Flecks, macular atrophy, Dark choroid" "11y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263585" "04214" "00368247" "01695" "Unknown" "" "At the age of 21, BCVA (Right eye) was 20/500 (Snellen) and BCVA (Left eye) was 20/200. Fundus showed: Flecks, macular atrophy, Dark choroid" "14y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263586" "04214" "00368248" "01695" "Unknown" "" "At the age of 28, BCVA (Right eye) was 20/500 (Snellen) and BCVA (Left eye) was 20/500. Fundus showed: Flecks, macular atrophy, Dark choroid, BM hole" "11y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263587" "04214" "00368249" "01695" "Unknown" "" "At the age of 20, BCVA (Right eye) was 20/320 (Snellen) and BCVA (Left eye) was 20/500. Fundus showed: Flecks, macular atrophy, Dark choroid" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263588" "04214" "00368250" "01695" "Unknown" "" "At the age of 22, BCVA (Right eye) was 20/125 (Snellen) and BCVA (Left eye) was 20/125. Fundus showed: Macular atrophy, dark choroid" "16y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263589" "04214" "00368251" "01695" "Unknown" "" "At the age of 11, BCVA (Right eye) was 20/63 (Snellen) and BCVA (Left eye) was 20/100. Fundus showed: Flecks, macular atrophy" "11y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263590" "04214" "00368252" "01695" "Unknown" "" "At the age of 51, BCVA (Right eye) was 20/20 (Snellen) and BCVA (Left eye) was 20/20. Fundus showed: Flecks" "48y" "" "unknown" "" "" "" "" "" "" "FF" ""
"0000263591" "04214" "00368253" "01695" "Unknown" "" "At the age of 18, BCVA (Right eye) was CF (Snellen) and BCVA (Left eye) was HM. Fundus showed: Extensive CR atrophy, Diffuse pigmentation" "4y" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000263592" "04214" "00368254" "01695" "Unknown" "" "At the age of 15, BCVA (Right eye) was 20/500 (Snellen) and BCVA (Left eye) was 20/200. Fundus showed: Macular atrophy" "5y" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000263593" "04214" "00368255" "01695" "Unknown" "" "At the age of 19, BCVA (Right eye) was 20/200 (Snellen) and BCVA (Left eye) was 20/500. Fundus showed: Macular atrophy" "4y" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000263594" "04214" "00368256" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263595" "04214" "00368257" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263596" "04214" "00368258" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263597" "04214" "00368259" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263598" "04214" "00368260" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263599" "04214" "00368261" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263600" "04214" "00368262" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263601" "04214" "00368263" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263602" "04214" "00368264" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263603" "04214" "00368265" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263604" "04214" "00368266" "01695" "Unknown" "" "At the age of 34, ERG showed: normal responses on scotopic and photopic full-field ERG. BCVA (Right eye, left eye) was: 0.9, 0.7," "27y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263605" "04214" "00368267" "01695" "Unknown" "" "At the age of 14, ERG showed: normal responses on scotopic and photopic full-field ERG. BCVA (Right eye, left eye) was: 0.6, 0.5," "6y" "" "first symptoms noticed" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263606" "04214" "00368268" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000263607" "04214" "00368269" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000263608" "04214" "00368270" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000263609" "04214" "00368271" "01695" "Unknown" "" "At the age of 17: Optic disc pallor, attenuated vessels, atrophic macula with pigmentary clumping, peripheral degeneration. Central scotoma, peripheral field relatively intact" "7y" "" "diagnosis" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000263610" "04214" "00368272" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "Usher syndrome" ""
"0000263611" "04214" "00368273" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000263612" "04214" "00368274" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263613" "04214" "00368275" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263614" "04214" "00368276" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000263615" "04214" "00368277" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263616" "04214" "00368278" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000263617" "04214" "00368279" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000263618" "04214" "00368280" "01695" "Familial, autosomal recessive" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263619" "04214" "00368281" "01695" "Unknown" "" "At the age of 39, BCVA (RE/LE) was 1.2 / --- . Ff-ERG showed impairment of both rod- and cone-driven responses in the right eye and --- in the left eye. More information can be found in Müller et al., 2020." "11y-39y" "" "self reported onset" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263620" "04214" "00368282" "01695" "Unknown" "" "At the age of 67, BCVA (RE/LE) was 0.1 / 0. Ff-ERG showed normal scotopic and photopic responses in the right eye and normal scotopic and photopic responses in the left eye. More information can be found in Müller et al., 2020." "66y" "" "self reported onset" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263621" "04214" "00368283" "01695" "Unknown" "" "At the age of 23, BCVA (RE/LE) was 1.3 / 1.4 . Ff-ERG showed impairment of both rod- and cone-driven responses in the right eye and impairment of both rod- and cone-driven responses in the left eye. More information can be found in Müller et al., 2020." "<11y" "" "self reported onset" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263622" "04214" "00368284" "01695" "Unknown" "" "At the age of 69, BCVA (RE/LE) was 0.1 / --- . Ff-ERG showed normal scotopic responses, but reduced (over 2 SDs) photopic B-wave and 30-Hz flicker amplitudes in the right eye and --- in the left eye. More information can be found in Müller et al., 2020." ">45y" "" "self reported onset" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263623" "04214" "00368285" "01695" "Unknown" "" "At the age of 55, BCVA (RE/LE) was 0.4 / 0.3 . Ff-ERG showed normal scotopic responses, but reduced (over 2 SDs) photopic B-wave and 30-Hz flicker amplitudes in the right eye and normal scotopic responses, but reduced (over 2 SDs) photopic B-wave and 30-Hz flicker amplitudes in the left eye. More information can be found in Müller et al., 2020." ">45y" "" "self reported onset" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263624" "04214" "00368286" "01695" "Unknown" "" "At the age of 47, BCVA (RE/LE) was 0 / 0. Ff-ERG showed impairment of both rod- and cone-driven responses in the right eye and impairment of both rod- and cone-driven responses in the left eye. More information can be found in Müller et al., 2020." "11y-44y" "" "self reported onset" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263625" "04214" "00368287" "01695" "Unknown" "" "At the age of 32, BCVA (RE/LE) was 1 / 0.9 . Ff-ERG showed normal scotopic responses, but reduced (over 2 SDs) photopic B-wave and 30-Hz flicker amplitudes in the right eye and normal scotopic responses, but reduced (over 2 SDs) photopic B-wave and 30-Hz flicker amplitudes in the left eye. More information can be found in Müller et al., 2020." "11y-32y" "" "self reported onset" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263626" "04214" "00368288" "01695" "Unknown" "" "At the age of 30, BCVA (RE/LE) was 0.1 / 0.2 . Ff-ERG showed normal scotopic responses, but reduced (over 2 SDs) photopic B-wave and 30-Hz flicker amplitudes in the right eye and normal scotopic responses, but reduced (over 2 SDs) photopic B-wave and 30-Hz flicker amplitudes in the left eye. More information can be found in Müller et al., 2020." "11y-30y" "" "self reported onset" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263627" "04214" "00368289" "01695" "Unknown" "" "At the age of 45, BCVA (RE/LE) was 1 / 0. Ff-ERG showed normal scotopic responses, but reduced (over 2 SDs) photopic B-wave and 30-Hz flicker amplitudes in the right eye and normal scotopic responses, but reduced (over 2 SDs) photopic B-wave and 30-Hz flicker amplitudes in the left eye. More information can be found in Müller et al., 2020." "11y-44y" "" "self reported onset" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263628" "04214" "00368290" "01695" "Unknown" "" "At the age of 27, BCVA (RE/LE) was 0.2 / 0. Ff-ERG showed normal scotopic responses, but reduced (over 2 SDs) photopic B-wave and 30-Hz flicker amplitudes in the right eye and normal scotopic responses, but reduced (over 2 SDs) photopic B-wave and 30-Hz flicker amplitudes in the left eye. More information can be found in Müller et al., 2020." "11y-27y" "" "self reported onset" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263629" "04214" "00368291" "01695" "Unknown" "" "At the age of 34, BCVA (RE/LE) was 0 / 0.1 . Ff-ERG showed normal scotopic responses, but reduced (over 2 SDs) photopic B-wave and 30-Hz flicker amplitudes in the right eye and normal scotopic responses, but reduced (over 2 SDs) photopic B-wave and 30-Hz flicker amplitudes in the left eye. More information can be found in Müller et al., 2020." "11y-34y" "" "self reported onset" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263630" "04214" "00368292" "01695" "Unknown" "" "At the age of 71, BCVA (RE/LE) was 0.3 / 0.3 . Ff-ERG showed normal scotopic responses, but reduced (over 2 SDs) photopic B-wave and 30-Hz flicker amplitudes in the right eye and normal scotopic responses, but reduced (over 2 SDs) photopic B-wave and 30-Hz flicker amplitudes in the left eye. More information can be found in Müller et al., 2020." ">45y" "" "self reported onset" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263631" "04214" "00368293" "01695" "Unknown" "" "At the age of 79, BCVA (RE/LE) was 1.5 / 0.3 . Ff-ERG showed normal scotopic responses, but reduced (over 2 SDs) photopic B-wave and 30-Hz flicker amplitudes in the right eye and normal scotopic responses, but reduced (over 2 SDs) photopic B-wave and 30-Hz flicker amplitudes in the left eye. More information can be found in Müller et al., 2020." ">45y" "" "self reported onset" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263632" "04214" "00368294" "01695" "Unknown" "" "At the age of 40, BCVA (RE/LE) was 0 / 0.1 . Ff-ERG showed normal scotopic responses, but reduced (over 2 SDs) photopic B-wave and 30-Hz flicker amplitudes in the right eye and normal scotopic responses, but reduced (over 2 SDs) photopic B-wave and 30-Hz flicker amplitudes in the left eye. More information can be found in Müller et al., 2020." "11y-40y" "" "self reported onset" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263633" "04214" "00368295" "01695" "Unknown" "" "At the age of 72, BCVA (RE/LE) was 0.3 / 0.2 . Ff-ERG showed normal scotopic responses, but reduced (over 2 SDs) photopic B-wave and 30-Hz flicker amplitudes in the right eye and normal scotopic responses, but reduced (over 2 SDs) photopic B-wave and 30-Hz flicker amplitudes in the left eye. More information can be found in Müller et al., 2020." "11y-44y" "" "self reported onset" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263634" "04214" "00368296" "01695" "Unknown" "" "At the age of 37, BCVA (RE/LE) was 1.3 / 1.3 . Ff-ERG showed normal scotopic responses, but reduced (over 2 SDs) photopic B-wave and 30-Hz flicker amplitudes in the right eye and normal scotopic responses, but reduced (over 2 SDs) photopic B-wave and 30-Hz flicker amplitudes in the left eye. More information can be found in Müller et al., 2020." "11y-37y" "" "self reported onset" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263635" "04214" "00368297" "01695" "Unknown" "" "At the age of 39, BCVA (RE/LE) was 0.9 / 0.9 . Ff-ERG showed normal scotopic and photopic responses in the right eye and normal scotopic and photopic responses in the left eye. More information can be found in Müller et al., 2020." "11y-39y" "" "self reported onset" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263636" "04214" "00368298" "01695" "Unknown" "" "At the age of 14, BCVA (RE/LE) was 1 / 1. Ff-ERG showed normal scotopic responses, but reduced (over 2 SDs) photopic B-wave and 30-Hz flicker amplitudes in the right eye and normal scotopic responses, but reduced (over 2 SDs) photopic B-wave and 30-Hz flicker amplitudes in the left eye. More information can be found in Müller et al., 2020." "<11y" "" "self reported onset" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263637" "04214" "00368299" "01695" "Unknown" "" "At the age of 16 there was: Foveal atrophy few flecks in macula Hypo AF and hyper AF flecks observed in nasal to optic disk . SD-OCT showed: IS/OS loss . ERG showed: Normal. BCVA was: 20/80 in both eyes." "9y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263638" "04214" "00368300" "01695" "Unknown" "" "At the age of 8 there was: Macular atrophy Central hypo –AF, few hyper-AF flecks surrounding. SD-OCT showed: IS/OS loss Cone dysfunction. ERG showed: . BCVA was: 20/80 in both eyes." "9y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263639" "04214" "00368301" "01695" "Unknown" "" "At the age of 17 there was: Mild temporal pallor; flecks in macula and posterior pole; RPE and choroidal atrophy, extensive loss of choriocapillaris throughout fundus Central hypo-AF, hyper and hypo AF flecks all over fundus . SD-OCT showed: IS/OS loss . ERG showed: Cone-rod dysfunction. BCVA was: <20/200 in both eyes." "6y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263640" "04214" "00368302" "01695" "Unknown" "" "At the age of 12 there was: Macular atrophy with choriocapillary atrophy, few yellow flecks in macula Central hypo-AF, hyper-AF Flecks, surrounding atrophy, hyper and hypo-AF flecks all over the fundus. SD-OCT showed: IS/OS loss . ERG showed: Cone-rod dysfunction. BCVA was: 20/80 in both eyes." "10y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263641" "04214" "00368303" "01695" "Unknown" "" "At the age of 14 there was: Foveal atrophy Central hypo-AF surrounded by hyper-AF flecks. SD-OCT showed: IS/OS loss Cone dysfunction. ERG showed: . BCVA was: 20/50 in both eyes." "14y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263642" "04214" "00368304" "01695" "Unknown" "" "At the age of 7 there was: Homo Macular atrophy, Bulls eye macula Central hypo-AF, surrounding ill-defined hyper-AF ring hyper-AF flecks around post pole, extending nasally anterior to vascular arcades. SD-OCT showed: IS/OS loss. ERG showed: Cone-rod dysfunction. BCVA was: 20/80 in both eyes." "6y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263643" "04214" "00368305" "01695" "Unknown" "" "At the age of 10 there was: Macular atrophy and flecks Central hypo-AF surrounded by hyper-AF Flecks. SD-OCT showed: IS/OS loss . ERG showed: Normal. BCVA was: 20/80 in both eyes." "7y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263644" "04214" "00368306" "01695" "Unknown" "" "At the age of 30 there was: Macular atrophy, extensive loss of choriocapillaries and RPE atrophy Hypo-AF . SD-OCT showed: IS/OS loss . ERG showed: Cone-rod dysfunction. BCVA was: 20/120 in both eyes." "7y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263645" "04214" "00368307" "01695" "Unknown" "" "At the age of 10 there was: Macular atrophy and flecks Hypo-AF surrounded by hyper and hypo-AF flecks . SD-OCT showed: IS/OS loss. ERG showed: Cone-rod dysfunction. BCVA was: 20/200 in both eyes." "9y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263646" "04214" "00368308" "01695" "Unknown" "" "At the age of 16 there was: Macular atrophy Central area of hypo-AF with surrounding ring of hyper-AF . SD-OCT showed: IS/OS loss . ERG showed: Normal. BCVA was: 20/80 in both eyes." "14y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263647" "04214" "00368309" "01695" "Unknown" "" "At the age of 16 there was: Foveal atrophy with yellow flecks in post pole, extending anterior to vascular arcades Central hypo-AF; few flecks anterior to vascular arcade. SD-OCT showed: IS/OS loss . ERG showed: Normal. BCVA was: 20/50 in both eyes." "15y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263648" "04214" "00368310" "01695" "Familial, autosomal recessive" "" "At the age of 49, ffERG was severely reduced (both scotopic and photopic) and BCVA was CF at 1.25 m OD and 0.05 OS. The fundus showed typical RP signs. OCT showed Central atrophic maculopathy with no CME for both eyes. Phenotypes of family members are described in the paper." "10y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263649" "04214" "00368311" "01695" "Familial, autosomal recessive" "" "CF at 1 m OD, 0.1 OS. ffERG scotopic: OD: severely reduced OS: moderately reduced. Photopic: severely reduced in both eyes. Fundus: Atypical RP. OCT in both eyes: Central atrophic maculopathy with no CME." "11y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263650" "04214" "00368312" "01695" "Familial, autosomal recessive" "" "BCVA was CF at 2 m in both eyes. ffERG scotopic was Slightly reduced and photopic was moderately reduced. Fundus: reduced Atypical RP in both eyes. OCT: Central atrophic maculopathy with no CME." "8y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263651" "04214" "00368313" "01695" "Unknown" "" "Case 23 is a 43-year old woman diagnosed with STGD1 at the age of 18 when she experienced an onset of central vision problems. BCVA was 20/200 bilaterally. There was no history of similar vision problems in her family. Fundoscopy revealed an atrophic macula, with pisciform, yellow-white flecks surrounding the macula. On SW-FAF, dense hypoautofluorescence was observed in the macular area, indicative of RPE atrophy. Hyperautofluorescent flecks were also observed on the posterior pole." "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263652" "04214" "00368314" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263653" "04214" "00368315" "01695" "Familial, autosomal recessive" "" "At the age of 45, BCVA was HM in both eyes." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263654" "04214" "00368316" "01695" "Unknown" "" "History: Visual impairment and night; blindness since childhood; negative family history. At the age of 23: BCVA (OD/OS): 0.05; 0.05 Fundus features: Bilateral retinal arteriolar attenuation, widespread RPE atrophy, pigment deposition, bilateral beatenbronze appearing macular lesions with yellow flecks around macula, pale optic disc" "<18y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263655" "04214" "00368317" "01695" "Unknown" "" "Histroy: Decreased visual acuity for about 14y; mild night blindness since childhood; his elder sister was also affected. At the age of 25: BCVA (OD/OS): 0.05; 0.05 Fundus features: Bilateral retinal arteriolar attenuation, widespread RPE atrophy; bilateral beaten-bronze appearing macular lesions with yellow flecks around macula, pale optic disc" "10y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263656" "04214" "00368318" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000263657" "04214" "00368319" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000263658" "04214" "00368320" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000263659" "04214" "00368321" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "cone dystrophy" ""
"0000263660" "04214" "00368322" "01695" "Unknown" "" "" ">18y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263661" "04214" "00368323" "01695" "Unknown" "" "" ">18y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263662" "04214" "00368324" "01695" "Unknown" "" "" ">18y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263663" "04214" "00368325" "01695" "Unknown" "" "" "<18y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263664" "04214" "00368326" "01695" "Unknown" "" "" "<18y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263665" "04214" "00368327" "01695" "Unknown" "" "" "<18y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263666" "04214" "00368328" "01695" "Unknown" "" "" "<18y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263667" "04214" "00368329" "01695" "Unknown" "" "" "<18y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263668" "04214" "00368330" "01695" "Unknown" "" "" "<18y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263669" "04214" "00368331" "01695" "Unknown" "" "" "<18y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263670" "04214" "00368332" "01695" "Unknown" "" "" "<18y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263671" "04214" "00368333" "01695" "Unknown" "" "" "<18y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263672" "04214" "00368334" "01695" "Unknown" "" "" "<18y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263673" "04214" "00368335" "01695" "Unknown" "" "" "<18y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263674" "04214" "00368336" "01695" "Unknown" "" "At the age of 10, the BCVA was 20/125 (OD) and 20/200 (OS)." "10y" "" "diagnosis" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263675" "04214" "00368337" "01695" "Unknown" "" "At the age of 12, the BCVA was 20/50 (OD) and 20/70 (OS)." "12y" "" "diagnosis" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263676" "04214" "00368338" "01695" "Unknown" "" "At the age of 16, the BCVA was 20/160 (OD) and 20/125 (OS)." "9y6m" "" "diagnosis" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263677" "04214" "00368339" "01695" "Unknown" "" "At the age of 15, the BCVA was 20/160 (OD) and 20/125 (OS)." "15y" "" "diagnosis" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263678" "04214" "00368340" "01695" "Unknown" "" "At the age of 21, the BCVA was 20/80 (OD) and 20/80 (OS)." "21y" "" "diagnosis" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263679" "04214" "00368341" "01695" "Unknown" "" "At the age of 22, the BCVA was 20/80 (OD) and 20/80 (OS).; At the age of 23, the BCVA was 20/100 (OD) and 20/80 (OS). 33 months later, the BCVA was 20/160 (OD) and 20/160 (OS)." "22y" "" "diagnosis" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263680" "04214" "00368342" "01695" "Unknown" "" "At the age of 23, the BCVA was 20/50 (OD) and 20/100 (OS). At the age of 24, the BCVA was 20/50 (OD) and 20/100 (OS). 28 months later, the BCVA was 20/80 (OD) and 20/80 (OS)." "" "" "diagnosis" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263681" "04214" "00368343" "01695" "Unknown" "" "At the age of 27, the BCVA was 20/25 (OD) and 20/25 (OS)." "27y" "" "diagnosis" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263682" "04214" "00368344" "01695" "Unknown" "" "At the age of 34, the BCVA was 20/20 (OD) and 20/32 (OS)." "34y" "" "diagnosis" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263683" "04214" "00368345" "01695" "Unknown" "" "At the age of 40, the BCVA was 44185 (OD) and 20/20 (OS)." "39y" "" "diagnosis" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263684" "04214" "00368346" "01695" "Unknown" "" "At the age of 41, the BCVA was 20/160 (OD) and 20/160 (OS).; At the age of 42, the BCVA was 20/200 (OD) and 20/250 (OS). 17 months later, the BCVA was 20/160 (OD) and 20/160 (OS)." "29y6m" "" "diagnosis" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263685" "04214" "00368347" "01695" "Unknown" "" "At the age of 42, the BCVA was 20/25 (OD) and 20/32 (OS)." "42y" "" "diagnosis" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263686" "04214" "00368348" "01695" "Unknown" "" "At the age of 40, the BCVA was 20/40 (OD) and 20/20 (OS)." "39y" "" "diagnosis" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263687" "04214" "00368349" "01695" "Unknown" "" "At the age of 47, the BCVA was 20/16 (OD) and 20/20 (OS)." "47y" "" "diagnosis" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263688" "04214" "00368350" "01695" "Unknown" "" "At the age of 53, the BCVA was 20/125 (OD) and NA (OS)." "53y" "" "diagnosis" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263689" "04214" "00368351" "01695" "Unknown" "" "At the age of 60, the BCVA was 20/20 (OD) and 20/25 (OS)." "56y6m" "" "diagnosis" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263690" "04214" "00368352" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000263691" "04214" "00368353" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000263692" "04214" "00368354" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000263693" "04214" "00368355" "01695" "Unknown" "" "At the age of 46, the visual acuity was 0.2/0.01 (OD/OS). The fundus showed: attenuated retinal arteries;pigment bone spicule-like;no foveal reflex. ERG response of the rods was: not available and of the cones was not available." "43y" "" "poor vision" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000263694" "04214" "00368356" "01695" "Unknown" "" "At the age of 19, the visual acuity was 0.04/0.03 (OD/OS). The fundus showed: attenuated retinal arteries;macular degeneration. ERG response of the rods was: Extinguished and of the cones was Severe." "12y" "" "poor vision" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000263695" "04214" "00368357" "01695" "Unknown" "" "At the age of 19, the visual acuity was 0.1/0.1 (OD/OS). The fundus showed: attenuated retinal arteries; no foveal reflex;. ERG response of the rods was: not available and of the cones was not available." "13y" "" "poor vision" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000263696" "04214" "00368358" "01695" "Unknown" "" "At the age of 7, the visual acuity was 0.07/0.05 (OD/OS). The fundus showed: attenuated retinal arteries;tapetal-like retinal degeneration. ERG response of the rods was: Extinguished and of the cones was Extinguished." "7y" "" "poor vision" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000263697" "04214" "00368359" "01695" "Unknown" "" "" "13y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263698" "04214" "00368360" "01695" "Unknown" "" "" "18y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263699" "04214" "00368361" "01695" "Unknown" "" "" "13y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263700" "04214" "00368362" "01695" "Unknown" "" "" "11y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263701" "04214" "00368363" "01695" "Unknown" "" "" "20y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263702" "04214" "00368364" "01695" "Unknown" "" "" "07y-09y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263703" "04214" "00368365" "01695" "Unknown" "" "" "8y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263704" "04214" "00368366" "01695" "Unknown" "" "" "09y-11y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263705" "04214" "00368367" "01695" "Unknown" "" "" "05y-08y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263706" "04214" "00368368" "01695" "Unknown" "" "" "06y-09y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263707" "04214" "00368369" "01695" "Unknown" "" "" "30y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263708" "04214" "00368370" "01695" "Unknown" "" "" "05y-27y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263709" "04214" "00368371" "01695" "Unknown" "" "" "16y-19y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263710" "04214" "00368372" "01695" "Unknown" "" "" "6y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263711" "04214" "00368373" "01695" "Unknown" "" "" "12y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263712" "04214" "00368374" "01695" "Unknown" "" "" "05y-09y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263713" "04214" "00368375" "01695" "Unknown" "" "" "06y-09y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263714" "04214" "00368376" "01695" "Unknown" "" "" "07y-15y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263715" "04214" "00368377" "01695" "Unknown" "" "" "<10y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263716" "04214" "00368378" "01695" "Unknown" "" "" "04y-12y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263717" "04214" "00368379" "01695" "Unknown" "" "" "07y-10y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263718" "04214" "00368380" "01695" "Unknown" "" "At the age of 51, the BCVA was 1.0 logMAR. Quantitative fundus autofluorescence was: 349. Full-field ERG group (according to Lois classification) was: ." "41y" "" "first symptoms noticed" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263719" "04214" "00368381" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000263720" "04214" "00368382" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "macular dystrophy" ""
"0000263721" "04214" "00368383" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "macular dystrophy" ""
"0000263722" "04214" "00368384" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000263723" "04214" "00368385" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000263724" "04214" "00368386" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000263725" "04214" "00368387" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "macular dystrophy" ""
"0000263726" "04214" "00368388" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "macular dystrophy" ""
"0000263727" "04214" "00368389" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000263728" "04214" "00368390" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "macular dystrophy" ""
"0000263729" "04214" "00368391" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000263730" "04214" "00368392" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "macular dystrophy" ""
"0000263731" "04214" "00368393" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "macular dystrophy" ""
"0000263732" "04214" "00368394" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "macular dystrophy" ""
"0000263733" "04214" "00368395" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "macular dystrophy" ""
"0000263734" "04214" "00368396" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "macular dystrophy" ""
"0000263735" "04214" "00368397" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "macular dystrophy" ""
"0000263736" "04214" "00368398" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000263737" "04214" "00368399" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000263738" "04214" "00368400" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000263739" "04214" "00368401" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000263740" "04214" "00368402" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000263741" "04214" "00368403" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000263742" "04214" "00368404" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "macular dystrophy" ""
"0000263743" "04214" "00368405" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "cone dystrophy" ""
"0000263744" "04214" "00368406" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000263745" "04214" "00368407" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "cone dystrophy" ""
"0000263746" "04214" "00368408" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000263747" "04214" "00368409" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000263748" "04214" "00368410" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000263749" "04214" "00368411" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000263750" "04214" "00368412" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000263751" "04214" "00368413" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000263752" "04214" "00368414" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "macular dystrophy" ""
"0000263753" "04214" "00368415" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000263754" "04214" "00368416" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "EOSRD" ""
"0000263755" "04214" "00368417" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263756" "04214" "00368418" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263757" "04214" "00368419" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263758" "04214" "00368420" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263759" "04214" "00368421" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263760" "04214" "00368422" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263761" "04214" "00368423" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263762" "04214" "00368424" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263763" "04214" "00368425" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263764" "04214" "00368426" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263765" "04214" "00368427" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263766" "04214" "00368428" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263767" "04214" "00368429" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263768" "04214" "00368430" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263769" "04214" "00368431" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263770" "04214" "00368432" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263771" "04214" "00368433" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263772" "04214" "00368434" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263773" "04214" "00368435" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263774" "04214" "00368436" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263775" "04214" "00368437" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263776" "04214" "00368438" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263777" "04214" "00368439" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263778" "04214" "00368440" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263779" "04214" "00368441" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263780" "04214" "00368442" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263781" "04214" "00368443" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263782" "04214" "00368444" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263783" "04214" "00368445" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263784" "04214" "00368446" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263785" "04214" "00368447" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263786" "04214" "00368448" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263787" "04214" "00368449" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263788" "04214" "00368450" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263789" "04214" "00368451" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263790" "04214" "00368452" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263791" "04214" "00368453" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263792" "04214" "00368454" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263793" "04214" "00368455" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263794" "04214" "00368456" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263795" "04214" "00368457" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263796" "04214" "00368458" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263797" "04214" "00368459" "01695" "Unknown" "" "At the age of 19, The Fundus showed: a small atrophic-appearing foveal lesion and localized perifoveal yellowish-white flecks and the ERG showed: normal full field amplitudes." "13y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263798" "04214" "00368460" "01695" "Unknown" "" "At the age of 32, The Fundus showed: numerous yellowishwhite fundus lesions throughout the posterior pole and the ERG showed: normal full field amplitudes." "28y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263799" "04214" "00368461" "01695" "Unknown" "" "At the age of 49, The Fundus showed: extensive atrophic-appearing RPE changes and the ERG showed: abnormal responses involving both rods and cones." "18y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263800" "04214" "00368462" "01695" "Unknown" "" "At the age of 20, The Fundus showed: a small atrophic-appearing foveal lesion and localized perifoveal yellowish-white flecks and the ERG showed: normal full field amplitudes." "19y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263801" "04214" "00368463" "01695" "Unknown" "" "At the age of 37, The Fundus showed: a small atrophic-appearing foveal lesion and localized perifoveal yellowish-white flecks and the ERG showed: normal full field amplitudes." "34y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263802" "04214" "00368464" "01695" "Unknown" "" "At the age of 18, The Fundus showed: numerous yellowishwhite fundus lesions throughout the posterior pole and the ERG showed: normal scotopic but reduced photopic b wave amplitudes." "10y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263803" "04214" "00368465" "01695" "Unknown" "" "At the age of 19, The Fundus showed: numerous yellowishwhite fundus lesions throughout the posterior pole and the ERG showed: normal full field amplitudes." "11y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263804" "04214" "00368466" "01695" "Unknown" "" "At the age of 25, The Fundus showed: numerous yellowishwhite fundus lesions throughout the posterior pole and the ERG showed: normal full field amplitudes." "18y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263805" "04214" "00368467" "01695" "Unknown" "" "At the age of 54, The Fundus showed: numerous yellowishwhite fundus lesions throughout the posterior pole and the ERG showed: normal full field amplitudes." "28y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263806" "04214" "00368468" "01695" "Unknown" "" "At the age of 18, The Fundus showed: a small atrophic-appearing foveal lesion and localized perifoveal yellowish-white flecks and the ERG showed: normal full field amplitudes." "14y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263807" "04214" "00368469" "01695" "Unknown" "" "At the age of 25, The Fundus showed: a small atrophic-appearing foveal lesion and localized perifoveal yellowish-white flecks and the ERG showed: normal scotopic but reduced photopic b wave amplitudes." "17y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263808" "04214" "00368470" "01695" "Unknown" "" "At the age of 23, The Fundus showed: numerous yellowishwhite fundus lesions throughout the posterior pole and the ERG showed: abnormal responses involving both rods and cones." "14y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263809" "04214" "00368471" "01695" "Unknown" "" "At the age of 33, The Fundus showed: a small atrophic-appearing foveal lesion and localized perifoveal yellowish-white flecks and the ERG showed: normal full field amplitudes." "18y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263810" "04214" "00368472" "01695" "Unknown" "" "" "<31y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263811" "04214" "00368473" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263812" "04214" "00368474" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263813" "04214" "00368475" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263814" "04214" "00368476" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263815" "04214" "00368477" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263816" "04214" "00368478" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263817" "04214" "00368479" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263818" "04214" "00368480" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263819" "04214" "00368481" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263820" "04214" "00368482" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263821" "04214" "00368483" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263822" "04214" "00368484" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263823" "04214" "00368485" "01695" "Unknown" "" "At the age of 34, ERG responses were: normal scotopic and photopic responses" "32y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263824" "04214" "00368486" "01695" "Unknown" "" "Fundus at central retina: Large confluent areas of CR atrophy, with preserved foveal area; Fundus rat peripheral retina: Plaques of CR atrophy; Autofluorescence: Hypo-AF due to plaques atrophy in macula and periphery of the retina; OCT: Outer retinal atrophy of the macular region and choroidal hyper-reflectivity by window defect at the posterior pole in BE. CRT = 128 um RE/141 um LE; Clinical diagnosis: Extensive CR atrophy" "52y" "" "Loss of peripheral visual field" "" "" "" "" "" "" "CR atrophy" ""
"0000263825" "04214" "00368487" "01695" "Unknown" "" "Fundus at central retina: Yellow triradiate flecks in the posterior pole; Fundus at peripheral retina: Yellow and gray triradiate flecks in mid-periphery; autofluorescence; Some flecks were hyper-AF and others were hypo-AF; OCT: Irregular aspect or disruption of the EZ and IZ limited to the foveal region. CRT = 286 um RE/287 um LE; Clinical diagnosis: Multifocal PD simulating Fundus Flavimaculatus" "37y" "" "Metamorphopsia" "" "" "" "" "" "" "multifocal PD simulating fundus flavimaculatus" ""
"0000263826" "04214" "00368488" "01695" "Unknown" "" "At the age of 60, BCVA OD was 6/9 and BCVA OS was 6/6. Fishman classification was 2. Foveal photoreceptors: spared. Extent of FAF abn. with Regard to Vascular Arcades: beyond. Furthermore, at the age of – ERG classification was: –" "55y" "" "visual problems" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263827" "04214" "00368489" "01695" "Unknown" "" "At the age of 43, BCVA OD was 3/60 and BCVA OS was 2/60. Fishman classification was 4. Foveal photoreceptors: atrophy. Extent of FAF abn. with Regard to Vascular Arcades: beyond. Furthermore, at the age of 41 ERG classification was: 3" "22y" "" "visual problems" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000263828" "04214" "00368490" "01695" "Unknown" "" "At the age of 39, BCVA OD was 3/60 and BCVA OS was 3/60. Fishman classification was 4. Foveal photoreceptors: atrophy. Extent of FAF abn. with Regard to Vascular Arcades: beyond. Furthermore, at the age of 36 ERG classification was: 1" "22y" "" "visual problems" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263829" "04214" "00368491" "01695" "Unknown" "" "At the age of 30, BCVA OD was 6/24 and BCVA OS was 6/24. Fishman classification was 3. Foveal photoreceptors: atrophy. Extent of FAF abn. with Regard to Vascular Arcades: beyond. Furthermore, at the age of – ERG classification was: –" "23y" "" "visual problems" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263830" "04214" "00368492" "01695" "Unknown" "" "At the age of 64, BCVA OD was 6/18 and BCVA OS was \'CF. Fishman classification was 4. Foveal photoreceptors: atrophy. Extent of FAF abn. with Regard to Vascular Arcades: beyond. Furthermore, at the age of 61 ERG classification was: 3" "41y" "" "visual problems" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000263831" "04214" "00368493" "01695" "Unknown" "" "At the age of 12, BCVA OD was \'– and BCVA OS was \'–. Fishman classification was 0. Foveal photoreceptors: early changes. Extent of FAF abn. with Regard to Vascular Arcades: within (minimal). Furthermore, at the age of – ERG classification was: –" "12y" "" "visual problems" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263832" "04214" "00368494" "01695" "Unknown" "" "At the age of 44, BCVA OD was 6/60 and BCVA OS was 6/92. Fishman classification was 4. Foveal photoreceptors: atrophy. Extent of FAF abn. with Regard to Vascular Arcades: beyond. Furthermore, at the age of 42 ERG classification was: 1" "33y" "" "visual problems" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263833" "04214" "00368495" "01695" "Unknown" "" "At the age of 26, BCVA OD was 6/36 and BCVA OS was 6/36. Fishman classification was 2. Foveal photoreceptors: early changes. Extent of FAF abn. with Regard to Vascular Arcades: within (minimal). Furthermore, at the age of 21 ERG classification was: 1" "10y" "" "visual problems" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263834" "04214" "00368496" "01695" "Unknown" "" "At the age of 43, BCVA OD was 6/60 and BCVA OS was 6/60. Fishman classification was 4. Foveal photoreceptors: atrophy. Extent of FAF abn. with Regard to Vascular Arcades: beyond. Furthermore, at the age of 36 ERG classification was: 3" "24y" "" "visual problems" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000263835" "04214" "00368497" "01695" "Unknown" "" "At the age of 21, BCVA OD was 6/36 and BCVA OS was 6/36. Fishman classification was 2. Foveal photoreceptors: atrophy. Extent of FAF abn. with Regard to Vascular Arcades: beyond. Furthermore, at the age of 15 ERG classification was: 1" "15y" "" "visual problems" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263836" "04214" "00368498" "01695" "Unknown" "" "At the age of 61, BCVA OD was 6/60 and BCVA OS was 6/60. Fishman classification was 3. Foveal photoreceptors: atrophy. Extent of FAF abn. with Regard to Vascular Arcades: beyond. Furthermore, at the age of – ERG classification was: –" "46y" "" "visual problems" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263837" "04214" "00368499" "01695" "Unknown" "" "At the age of 62, BCVA OD was \'HM and BCVA OS was 6/60. Fishman classification was 4. Foveal photoreceptors: atrophy. Extent of FAF abn. with Regard to Vascular Arcades: beyond. Furthermore, at the age of 52 ERG classification was: 3" "22y" "" "visual problems" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000263838" "04214" "00368500" "01695" "Unknown" "" "At the age of 56, BCVA OD was 6/18 and BCVA OS was 6/12. Fishman classification was 4. Foveal photoreceptors: spared. Extent of FAF abn. with Regard to Vascular Arcades: beyond. Furthermore, at the age of 47 ERG classification was: 1" "46y" "" "visual problems" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263839" "04214" "00368501" "01695" "Unknown" "" "At the age of 30, BCVA OD was 6/6 and BCVA OS was 6/19. Fishman classification was 2. Foveal photoreceptors: atrophy. Extent of FAF abn. with Regard to Vascular Arcades: beyond. Furthermore, at the age of 26 ERG classification was: 1" "25y" "" "visual problems" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263840" "04214" "00368502" "01695" "Unknown" "" "At the age of 51, BCVA OD was 6/9 and BCVA OS was 6/9. Fishman classification was 2. Foveal photoreceptors: early changes. Extent of FAF abn. with Regard to Vascular Arcades: beyond. Furthermore, at the age of 40 ERG classification was: 1" "39y" "" "visual problems" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263841" "04214" "00368503" "01695" "Unknown" "" "At the age of 50, BCVA OD was 2/60 and BCVA OS was 6/6. Fishman classification was 3. Foveal photoreceptors: atrophy. Extent of FAF abn. with Regard to Vascular Arcades: beyond. Furthermore, at the age of 39 ERG classification was: 1" "24y" "" "visual problems" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263842" "04214" "00368504" "01695" "Unknown" "" "At the age of 43, BCVA OD was 3/60 and BCVA OS was 6/12. Fishman classification was 3. Foveal photoreceptors: atrophy. Extent of FAF abn. with Regard to Vascular Arcades: beyond. Furthermore, at the age of 39 ERG classification was: 3" "33y" "" "visual problems" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000263843" "04214" "00368505" "01695" "Unknown" "" "At the age of 62, BCVA OD was 6/6 and BCVA OS was 6/36. Fishman classification was 3. Foveal photoreceptors: spared. Extent of FAF abn. with Regard to Vascular Arcades: beyond. Furthermore, at the age of 57 ERG classification was: 1" "55y" "" "visual problems" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263844" "04214" "00368506" "01695" "Unknown" "" "At the age of 20, BCVA OD was 6/48 and BCVA OS was 6/30. Fishman classification was 2. Foveal photoreceptors: atrophy. Extent of FAF abn. with Regard to Vascular Arcades: beyond. Furthermore, at the age of 17 ERG classification was: 1" "10y" "" "visual problems" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263845" "04214" "00368507" "01695" "Unknown" "" "At the age of 72, BCVA OD was 3/60 and BCVA OS was 3/60. Fishman classification was 4. Foveal photoreceptors: atrophy. Extent of FAF abn. with Regard to Vascular Arcades: beyond. Furthermore, at the age of 68 ERG classification was: 1" "40y" "" "visual problems" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263846" "04214" "00368508" "01695" "Unknown" "" "At the age of 35, BCVA OD was 6/9 and BCVA OS was 6/9. Fishman classification was 3. Foveal photoreceptors: spared. Extent of FAF abn. with Regard to Vascular Arcades: beyond. Furthermore, at the age of 35 ERG classification was: 1" "35y" "" "visual problems" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263847" "04214" "00368509" "01695" "Unknown" "" "At the age of 29, BCVA OD was 6/60 and BCVA OS was 3/60. Fishman classification was 3. Foveal photoreceptors: atrophy. Extent of FAF abn. with Regard to Vascular Arcades: beyond. Furthermore, at the age of 25 ERG classification was: 1" "13y" "" "visual problems" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263848" "04214" "00368510" "01695" "Unknown" "" "At the age of 35, BCVA OD was 20/60 and BCVA OS was 24/60. Fishman classification was 2. Foveal photoreceptors: atrophy. Extent of FAF abn. with Regard to Vascular Arcades: beyond. Furthermore, at the age of 27 ERG classification was: 1s" "27y" "" "visual problems" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263849" "04214" "00368511" "01695" "Unknown" "" "At the age of 10, quantitative fundus autofluorescence: 662" "<10y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263850" "04214" "00368512" "01695" "Unknown" "" "At the age of 10, quantitative fundus autofluorescence: 759" "<10y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263851" "04214" "00368513" "01695" "Unknown" "" "At the age of 10, quantitative fundus autofluorescence: 475" "<10y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263852" "04214" "00368514" "01695" "Unknown" "" "At the age of 12, quantitative fundus autofluorescence: 373" "<12y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263853" "04214" "00368515" "01695" "Unknown" "" "At the age of 13, quantitative fundus autofluorescence: 664" "<13y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263854" "04214" "00368516" "01695" "Unknown" "" "At the age of 13, quantitative fundus autofluorescence: 791" "<13y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263855" "04214" "00368517" "01695" "Unknown" "" "At the age of 14, quantitative fundus autofluorescence: 759" "<14y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263856" "04214" "00368518" "01695" "Unknown" "" "At the age of 14, quantitative fundus autofluorescence: 454" "<14y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263857" "04214" "00368519" "01695" "Unknown" "" "At the age of 15, quantitative fundus autofluorescence: 519" "<15y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263858" "04214" "00368520" "01695" "Unknown" "" "At the age of 15, quantitative fundus autofluorescence: 559" "<15y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263859" "04214" "00368521" "01695" "Unknown" "" "At the age of 15, quantitative fundus autofluorescence: 405" "<15y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263860" "04214" "00368522" "01695" "Unknown" "" "At the age of 15, quantitative fundus autofluorescence: 656" "<15y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263861" "04214" "00368523" "01695" "Unknown" "" "At the age of 16, quantitative fundus autofluorescence: 350" "<16y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263862" "04214" "00368524" "01695" "Unknown" "" "At the age of 17, quantitative fundus autofluorescence: 581" "<17y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263863" "04214" "00368525" "01695" "Unknown" "" "At the age of 17, quantitative fundus autofluorescence: 618" "<17y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263864" "04214" "00368526" "01695" "Unknown" "" "At the age of 17, quantitative fundus autofluorescence: 707" "<17y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263865" "04214" "00368527" "01695" "Unknown" "" "At the age of 18, quantitative fundus autofluorescence: 860" "<18y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263866" "04214" "00368528" "01695" "Unknown" "" "At the age of 18, quantitative fundus autofluorescence: 497" "<18y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263867" "04214" "00368529" "01695" "Unknown" "" "At the age of 19, quantitative fundus autofluorescence: 377" "<19y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263868" "04214" "00368530" "01695" "Unknown" "" "At the age of 20, quantitative fundus autofluorescence: 595" "<20y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263869" "04214" "00368531" "01695" "Unknown" "" "At the age of 21, quantitative fundus autofluorescence: 429" "<21y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263870" "04214" "00368532" "01695" "Unknown" "" "At the age of 21, quantitative fundus autofluorescence: 685" "<21y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263871" "04214" "00368533" "01695" "Unknown" "" "At the age of 22, quantitative fundus autofluorescence: 334" "<22y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263872" "04214" "00368534" "01695" "Unknown" "" "At the age of 22, quantitative fundus autofluorescence: 358" "<22y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263873" "04214" "00368535" "01695" "Unknown" "" "At the age of 22, quantitative fundus autofluorescence: 600" "<22y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263874" "04214" "00368536" "01695" "Unknown" "" "At the age of 22, quantitative fundus autofluorescence: 431" "<22y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263875" "04214" "00368537" "01695" "Unknown" "" "At the age of 23, quantitative fundus autofluorescence: 771" "<23y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263876" "04214" "00368538" "01695" "Unknown" "" "At the age of 23, quantitative fundus autofluorescence: 541" "<23y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263877" "04214" "00368539" "01695" "Unknown" "" "At the age of 23, quantitative fundus autofluorescence: 348" "<23y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263878" "04214" "00368540" "01695" "Unknown" "" "At the age of 24, quantitative fundus autofluorescence: 327" "<24y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263879" "04214" "00368541" "01695" "Unknown" "" "At the age of 25, quantitative fundus autofluorescence: 448" "<25y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263880" "04214" "00368542" "01695" "Unknown" "" "At the age of 28, quantitative fundus autofluorescence: 787" "<28y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263881" "04214" "00368543" "01695" "Unknown" "" "At the age of 28, quantitative fundus autofluorescence: 468" "<28y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263882" "04214" "00368544" "01695" "Unknown" "" "At the age of 28, quantitative fundus autofluorescence: 658" "<28y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263883" "04214" "00368545" "01695" "Unknown" "" "At the age of 29, quantitative fundus autofluorescence: 527" "<29y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263884" "04214" "00368546" "01695" "Unknown" "" "At the age of 29, quantitative fundus autofluorescence: 355" "<29y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263885" "04214" "00368547" "01695" "Unknown" "" "At the age of 29, quantitative fundus autofluorescence: 421" "<29y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263886" "04214" "00368548" "01695" "Unknown" "" "At the age of 30, quantitative fundus autofluorescence: 457" "<30y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263887" "04214" "00368549" "01695" "Unknown" "" "At the age of 30, quantitative fundus autofluorescence: 754" "<30y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263888" "04214" "00368550" "01695" "Unknown" "" "At the age of 31, quantitative fundus autofluorescence: 412" "<31y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263889" "04214" "00368551" "01695" "Unknown" "" "At the age of 31, quantitative fundus autofluorescence: 468" "<31y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263890" "04214" "00368552" "01695" "Unknown" "" "At the age of 32, quantitative fundus autofluorescence: 433" "<32y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263891" "04214" "00368553" "01695" "Unknown" "" "At the age of 34, quantitative fundus autofluorescence: 405" "<34y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263892" "04214" "00368554" "01695" "Unknown" "" "At the age of 34, quantitative fundus autofluorescence: 590" "<34y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263893" "04214" "00368555" "01695" "Unknown" "" "At the age of 35, quantitative fundus autofluorescence: 631" "<35y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263894" "04214" "00368556" "01695" "Unknown" "" "At the age of 36, quantitative fundus autofluorescence: 653" "<36y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263895" "04214" "00368557" "01695" "Unknown" "" "At the age of 36, quantitative fundus autofluorescence: 634" "<36y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263896" "04214" "00368558" "01695" "Unknown" "" "At the age of 36, quantitative fundus autofluorescence: 366" "<36y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263897" "04214" "00368559" "01695" "Unknown" "" "At the age of 36, quantitative fundus autofluorescence: 613" "<36y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263898" "04214" "00368560" "01695" "Unknown" "" "At the age of 37, quantitative fundus autofluorescence: 675" "<37y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263899" "04214" "00368561" "01695" "Unknown" "" "At the age of 37, quantitative fundus autofluorescence: 663" "<37y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263900" "04214" "00368562" "01695" "Unknown" "" "At the age of 38, quantitative fundus autofluorescence: 743" "<38y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263901" "04214" "00368563" "01695" "Unknown" "" "At the age of 39, quantitative fundus autofluorescence: 402" "<39y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263902" "04214" "00368564" "01695" "Unknown" "" "At the age of 39, quantitative fundus autofluorescence: 801" "<39y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263903" "04214" "00368565" "01695" "Unknown" "" "At the age of 39, quantitative fundus autofluorescence: 280" "<39y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263904" "04214" "00368566" "01695" "Unknown" "" "At the age of 39, quantitative fundus autofluorescence: 700" "<39y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263905" "04214" "00368567" "01695" "Unknown" "" "At the age of 39, quantitative fundus autofluorescence: 459" "<39y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263906" "04214" "00368568" "01695" "Unknown" "" "At the age of 40, quantitative fundus autofluorescence: 663" "<40y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263907" "04214" "00368569" "01695" "Unknown" "" "At the age of 41, quantitative fundus autofluorescence: 564" "<41y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263908" "04214" "00368570" "01695" "Unknown" "" "At the age of 41, quantitative fundus autofluorescence: 745" "<41y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263909" "04214" "00368571" "01695" "Unknown" "" "At the age of 42, quantitative fundus autofluorescence: 742" "<42y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263910" "04214" "00368572" "01695" "Unknown" "" "At the age of 42, quantitative fundus autofluorescence: 626" "<42y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263911" "04214" "00368573" "01695" "Unknown" "" "At the age of 42, quantitative fundus autofluorescence: 560" "<42y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263912" "04214" "00368574" "01695" "Unknown" "" "At the age of 43, quantitative fundus autofluorescence: 295" "<43y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263913" "04214" "00368575" "01695" "Unknown" "" "At the age of 44, quantitative fundus autofluorescence: 399" "<44y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263914" "04214" "00368576" "01695" "Unknown" "" "At the age of 44, quantitative fundus autofluorescence: 710" "<44y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263915" "04214" "00368577" "01695" "Unknown" "" "At the age of 45, quantitative fundus autofluorescence: 573" "<45y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263916" "04214" "00368578" "01695" "Unknown" "" "At the age of 46, quantitative fundus autofluorescence: 725" "<46y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263917" "04214" "00368579" "01695" "Unknown" "" "At the age of 46, quantitative fundus autofluorescence: 552" "<46y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263918" "04214" "00368580" "01695" "Unknown" "" "At the age of 47, quantitative fundus autofluorescence: 519" "<47y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263919" "04214" "00368581" "01695" "Unknown" "" "At the age of 48, quantitative fundus autofluorescence: 565" "<48y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263920" "04214" "00368582" "01695" "Unknown" "" "At the age of 48, quantitative fundus autofluorescence: 421" "<48y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263921" "04214" "00368583" "01695" "Unknown" "" "At the age of 49, quantitative fundus autofluorescence: 487" "<49y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263922" "04214" "00368584" "01695" "Unknown" "" "At the age of 49, quantitative fundus autofluorescence: 492" "<49y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263923" "04214" "00368585" "01695" "Unknown" "" "At the age of 50, quantitative fundus autofluorescence: 553" "<50y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263924" "04214" "00368586" "01695" "Unknown" "" "At the age of 50, quantitative fundus autofluorescence: 596" "<50y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263925" "04214" "00368587" "01695" "Unknown" "" "At the age of 50, quantitative fundus autofluorescence: 467" "<50y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263926" "04214" "00368588" "01695" "Unknown" "" "At the age of 50, quantitative fundus autofluorescence: 385" "<50y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263927" "04214" "00368589" "01695" "Unknown" "" "At the age of 51, quantitative fundus autofluorescence: 398" "<51y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263928" "04214" "00368590" "01695" "Unknown" "" "At the age of 52, quantitative fundus autofluorescence: 649" "<52y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263929" "04214" "00368591" "01695" "Unknown" "" "At the age of 53, quantitative fundus autofluorescence: 588" "<53y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263930" "04214" "00368592" "01695" "Unknown" "" "At the age of 54, quantitative fundus autofluorescence: 469" "<54y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263931" "04214" "00368593" "01695" "Unknown" "" "At the age of 54, quantitative fundus autofluorescence: 677" "<54y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263932" "04214" "00368594" "01695" "Unknown" "" "At the age of 54, quantitative fundus autofluorescence: 441" "<54y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263933" "04214" "00368595" "01695" "Unknown" "" "At the age of 54, quantitative fundus autofluorescence: 493" "<54y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263934" "04214" "00368596" "01695" "Unknown" "" "At the age of 55, quantitative fundus autofluorescence: 526" "<55y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263935" "04214" "00368597" "01695" "Unknown" "" "At the age of 55, quantitative fundus autofluorescence: 772" "<55y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263936" "04214" "00368598" "01695" "Unknown" "" "At the age of 57, quantitative fundus autofluorescence: 508" "<57y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263937" "04214" "00368599" "01695" "Unknown" "" "At the age of 57, quantitative fundus autofluorescence: 470" "<57y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263938" "04214" "00368600" "01695" "Unknown" "" "At the age of 58, quantitative fundus autofluorescence: 433" "<58y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263939" "04214" "00368601" "01695" "Unknown" "" "At the age of 59, quantitative fundus autofluorescence: 664" "<59y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263940" "04214" "00368602" "01695" "Unknown" "" "At the age of 60, quantitative fundus autofluorescence: 514" "<60y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263941" "04214" "00368603" "01695" "Unknown" "" "At the age of 60, quantitative fundus autofluorescence: 557" "<60y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263942" "04214" "00368604" "01695" "Unknown" "" "At the age of 64, quantitative fundus autofluorescence: 433" "<64y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263943" "04214" "00368605" "01695" "Unknown" "" "At the age of 64, quantitative fundus autofluorescence: 335" "<64y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263944" "04214" "00368606" "01695" "Familial, autosomal recessive" "" "At the age of 43, the BCVA was Finger count . Ophthalmoscopy showed: Diffuse macular, peripapillary and RPE atrophy extending beyond the vascular arcades Hyperplasia of the RPE ." "9y" "" "first visual symptoms" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000263945" "04214" "00368607" "01695" "Familial, autosomal recessive" "" "At the age of 58, the BCVA was HM . Ophthalmoscopy showed: Diffuse macular, peripapillary and peripheral RPE atrophy; Macular atrophy Altered ERG responses predominating on photopic waves." "10y" "" "first visual symptoms" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000263946" "04214" "00368608" "01695" "Familial, autosomal recessive" "" "At the age of 14, the BCVA was 1/10 RE/LE . Ophthalmoscopy showed: Bull’s eye maculopathy yellowish deposits ." "6y" "" "first visual symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263947" "04214" "00368609" "01695" "Familial, autosomal recessive" "" "At the age of 18, the BCVA was 1/10 RE/LE . Ophthalmoscopy showed: Bull’s eye maculopathy yellowish deposits Macular atrophy STGD ABCA4 ." "6y" "" "first visual symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263948" "04214" "00368610" "01695" "Familial, autosomal recessive" "" "The first and the oldest affected brother (II:1) presented to our practice at age 17 with a history of progressive vision loss from age 7 and was diagnosed with “functional visual loss” at age 10. His acuity at age 17 was 20/120 in both eyes with diffuse fine pigmentation in the macula surrounded by fine yellow flecks. Electrophysiology (pre-ISCEV standard era) at age 17 showed normal light-adapted ERG responses and a reduced Arden ratio of 1.3. By the age of 20, his VA had declined to 20/200 in both eyes. From the age of 46, his VA was 20/600 in both eyes and remained unchanged at age 60. OCT showed significant outer retinal atrophy with large areas of RPE loss in the posterior pole sparing the eripapillary region. Heterogeneous AF signal outside the macular atrophy extended anterior to the equator. Follow-up electrophysiology (ISCEV 2016) at the age of 57 showed profoundly reduced dark- and light-adapted full-field and pattern ERG responses." "7y" "" "progressive vision loss" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263949" "04214" "00368611" "01695" "Familial, autosomal recessive" "" "The second affected brother (II:3) presented at the age of 15 to the same practice, with a history of strabismus operations at age 3 and 7 years and poor vision despite spectacle correction from the age of 6. His presenting VA was 20/60 and 20/120 in right and left eyes respectively with no obvious fundal lesions. Electrophysiology (pre-ISCEV era) also showed a reduced Arden ratio of 1.5 and full-field ERG was not performed. Fluorescein angiography showed a central region of stippled hyperfluorescence with no peripheral lesions. The presence of dark choroid was not specifically mentioned. By age 18, his VA had declined to 20/200 in both eyes. At age 46, his VA declined to 20/600 in both eyes due to extensive retinal atrophy. By the age of 58, his VA reduced to finger counting only in both eyes." "<15y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263950" "04214" "00368612" "01695" "Familial, autosomal recessive" "" "The proband presented at the age of 50 with central visual impairment in the right eye due to a subfoveal vitelliform lesion associated with pattern macular dystrophy. His presenting VA was 20/20 in both eyes. By the age of 53, VA in the right eye declined to 20/40 but the left eye remained at 20/20. Multiple linear and branching hyperautofluorescent subretinal deposits and extrafoveal RPE atrophy were present in both eyes. Fluorescein angiography showed a butterfly pattern of masking by the linear yellow deposits, window defects from RPE atrophy and a lack of the “dark choroid” sign. Microperimetry demonstrated overall reduced retinal sensitivity and dense scotoma in the region of RPE atrophy. Electrophysiology (ISCEV 2016) showed normal Arden ratio, dark- and lightadapted full-field ERG responses, albeit at the lower limits of normal range. Pattern ERG and dark adaptometry were normal. Over a 3-year follow-up period, his VA in the right eye improved to 20/30 as the subfoveal deposit was reabsorbed and replaced by a small patch of juxtafoveal RPE atrophy." "50y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263951" "04214" "00368613" "01695" "Familial, autosomal recessive" "" "At the age of 32, the BCVA (OD/OS) was: 0.15/0.4 , the fundus showed: Macular atrophy and the OCT showed: Hyper-reflective deposition, Thinning of the retina in the macular area." "11y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263952" "04214" "00368614" "01695" "Familial, autosomal recessive" "" "At the age of 33, the BCVA (OD/OS) was: 0.1/0.1 , the fundus showed: Macular atrophy, a beaten-bronze appearance, subretinal yellow flecks and the OCT showed: Hyper-reflective deposition, Thinning of the retina in the macular area." "31y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263953" "04214" "00368615" "01695" "Familial, autosomal recessive" "" "At the age of 34, the BCVA (OD/OS) was: 0.1/0.12 , the fundus showed: Macular atrophy and the OCT showed: Hyper-reflective deposition, Thinning of the retina in the macular area." "32y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263954" "04214" "00368616" "01695" "Familial, autosomal recessive" "" "At the age of 25, the BCVA (OD/OS) was: 0.05/0.05 , the fundus showed: Macular atrophy, subretinal yellow flecks and the OCT showed: Hyper-reflective deposition, Thinning of the retina in the macular area." "3y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263955" "04214" "00368617" "01695" "Familial, autosomal recessive" "" "At the age of 22, the BCVA (OD/OS) was: 0.1/0.1 , the fundus showed: Macular atrophy, a beaten-bronze appearance and the OCT showed: Hyper-reflective deposition, Thinning of the retina in the macular area." "7y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263956" "04214" "00368618" "01695" "Familial, autosomal recessive" "" "At the age of 45, the BCVA (OD/OS) was: 0.05/0.1 , the fundus showed: Macular atrophy, a beaten-bronze appearance, subretinal yellow flecks and the OCT showed: Hyper-reflective deposition, Thinning of the retina in the macular area." "16y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263957" "04214" "00368619" "01695" "Familial, autosomal recessive" "" "At the age of 35, the BCVA (OD/OS) was: 0.12/0.1, the fundus showed: Macular atrophy, a beaten-bronze appearance and the OCT showed: Hyper-reflective deposition, Thinning of the retina in the macular area." "20y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263958" "04214" "00368620" "01695" "Familial, autosomal recessive" "" "At the age of 39, the BCVA (OD/OS) was: 0.05/0.1 , the fundus showed: Macular atrophy, a beaten-bronze appearance and the OCT showed: Hyper-reflective deposition, Thinning of the retina in the macular area." "28y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263959" "04214" "00368621" "01695" "Familial, autosomal recessive" "" "At the age of 9, the BCVA (OD/OS) was: 0.12/0.12 , the fundus showed: Macular atrophy, a beaten-bronze appearance and the OCT showed: Hyper-reflective deposition, Thinning of the retina in the macular area." "8y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263960" "04214" "00368622" "01695" "Unknown" "" "At the age of 90, the visual acuity was: R-CF L-CF, the visual fields showed: Central scotoma. The central vision was: Mild. ERG showed: unknown." "20y" "" "diagnosis" "" "" "" "" "" "" "central choroidal sclerosis" ""
"0000263961" "04214" "00368623" "01695" "Unknown" "" "At the age of 75, the visual acuity was: R-CF 3 ft L-HM, the visual fields showed: Central scotoma. The central vision was: Medium. ERG showed: unknown." "45y" "" "diagnosis" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263962" "04214" "00368624" "01695" "Unknown" "" "At the age of unknown, the visual acuity was: unknown, the visual fields showed: unknown. The central vision was: unknown. ERG showed: unknown." "" "" "diagnosis" "" "" "" "" "" "" "" ""
"0000263963" "04214" "00368625" "01695" "Unknown" "" "At the age of 35, the visual acuity was: R-20/400 L-20/400, the visual fields showed: Central scotoma. The central vision was: Mild. ERG showed: Rod-normal cone-slight decreased." "17y" "" "diagnosis" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000263964" "04214" "00368626" "01695" "Unknown" "" "At the age of 16, the visual acuity was: R-20/400 L-20/400, the visual fields showed: Central scotoma. The central vision was: Mild. ERG showed: Rod-normal." "14y" "" "diagnosis" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000263965" "04214" "00368627" "01695" "Unknown" "" "At the age of 20, the visual acuity was: R-20/300 L-20/300, the visual fields showed: Central scotoma. The central vision was: Mild. ERG showed: Rod-decreased cone-normal." "18y" "" "diagnosis" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000263966" "04214" "00368628" "01695" "Unknown" "" "At the age of unknown, the visual acuity was: unknown, the visual fields showed: unknown. The central vision was: unknown. ERG showed: unknown." "" "" "diagnosis" "" "" "" "" "" "" "" ""
"0000263967" "04214" "00368629" "01695" "Unknown" "" "At the age of 56, the visual acuity was: R-20/60 L-20/40, the visual fields showed: Central scotoma. The central vision was: unknown. ERG showed: Rod-slight decreased cone-slight decreased." "52y" "" "diagnosis" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263968" "04214" "00368630" "01695" "Unknown" "" "At the age of 66, the visual acuity was: R-20/80 L-CF, the visual fields showed: Central scotoma. The central vision was: Severe. ERG showed: Rod-slight decreased cone-slight decreased." "47y" "" "diagnosis" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263969" "04214" "00368631" "01695" "Unknown" "" "At the age of unknown, the visual acuity was: unknown, the visual fields showed: unknown. The central vision was: unknown. ERG showed: unknown." "" "" "diagnosis" "" "" "" "" "" "" "" ""
"0000263970" "04214" "00368632" "01695" "Unknown" "" "At the age of unknown, the visual acuity was: unknown, the visual fields showed: unknown. The central vision was: unknown. ERG showed: unknown." "" "" "diagnosis" "" "" "" "" "" "" "" ""
"0000263971" "04214" "00368633" "01695" "Unknown" "" "At the age of 52, the visual acuity was: R-20/400 L-20/300, the visual fields showed: Central scotoma. The central vision was: Normal. ERG showed: Rod-decreased cone-Normal." "26y" "" "diagnosis" "" "" "" "" "" "" "atrophic macula" ""
"0000263972" "04214" "00368634" "01695" "Unknown" "" "At the age of 63, the visual acuity was: R-CF L-CF, the visual fields showed: unknown. The central vision was: Mild. ERG showed: Rod-normal cone-normal." "23y" "" "diagnosis" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263973" "04214" "00368635" "01695" "Unknown" "" "At the age of 56, the visual acuity was: R-20/400 L-20/200, the visual fields showed: Central scotoma. The central vision was: Mild. ERG showed: Rod-normal cone-normal." "26y" "" "diagnosis" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263974" "04214" "00368636" "01695" "Unknown" "" "At the age of unknown, the visual acuity was: unknown, the visual fields showed: unknown. The central vision was: unknown. ERG showed: unknown." "" "" "diagnosis" "" "" "" "" "" "" "" ""
"0000263975" "04214" "00368637" "01695" "Unknown" "" "At the age of 67, the visual acuity was: R-CF L-CF, the visual fields showed: Central scotoma correct. The central vision was: unknown. ERG showed: Rod-decreased cone-decreased." "12y" "" "diagnosis" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000263976" "04214" "00368638" "01695" "Unknown" "" "At the age of 46, the visual acuity was: R-20/60 L-20/20, the visual fields showed: Normal. The central vision was: Normal. ERG showed: Rod-normal cone-normal." "29y" "" "diagnosis" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263977" "04214" "00368639" "01695" "Unknown" "" "At the age of 21, the visual acuity was: R-20/200 L-20/300, the visual fields showed: Central scotoma. The central vision was: Medium. ERG showed: unknown." "15y" "" "diagnosis" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263978" "04214" "00368640" "01695" "Unknown" "" "At the age of unknown, the visual acuity was: unknown, the visual fields showed: unknown. The central vision was: unknown. ERG showed: unknown." "" "" "diagnosis" "" "" "" "" "" "" "" ""
"0000263979" "04214" "00368641" "01695" "Unknown" "" "At the age of unknown, the visual acuity was: unknown, the visual fields showed: unknown. The central vision was: unknown. ERG showed: unknown." "" "" "diagnosis" "" "" "" "" "" "" "" ""
"0000263980" "04214" "00368642" "01695" "Unknown" "" "At the age of 71, the visual acuity was: R-HM L-HM, the visual fields showed: Peripheral islands only. The central vision was: Severe. ERG showed: unknown." "11y" "" "diagnosis" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000263981" "04214" "00368643" "01695" "Unknown" "" "At the age of 38, the visual acuity was: R-20/400 L-20/400, the visual fields showed: Peripheral islands only. The central vision was: Severe. ERG showed: Rod-decreased cone-decreased." "8y" "" "diagnosis" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000263982" "04214" "00368644" "01695" "Unknown" "" "At the age of 39, the visual acuity was: R-20/400 L-CF, the visual fields showed: Mid-peripheral islands only. The central vision was: Severe. ERG showed: Rod-decreased cone-decreased." "12y" "" "diagnosis" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000263983" "04214" "00368645" "01695" "Unknown" "" "At the age of 41, the visual acuity was: R-20/200 L-20/400, the visual fields showed: Central scotoma. The central vision was: unknown. ERG showed: Rod-decreased cone-normal." "13y" "" "diagnosis" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000263984" "04214" "00368646" "01695" "Unknown" "" "At the age of 14, the visual acuity was: R-20/500 L-20/300, the visual fields showed: Central scotoma. The central vision was: Mild. ERG showed: Rod-decreased cone-decreased." "8y" "" "diagnosis" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000263985" "04214" "00368647" "01695" "Unknown" "" "At the age of 62, the visual acuity was: R-20/200 L-20/50, the visual fields showed: Central scotoma. The central vision was: Severe. ERG showed: Rod-decreased cone-normal." "39y" "" "diagnosis" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263986" "04214" "00368648" "01695" "Unknown" "" "At the age of 63, the visual acuity was: R-20/30 L-CF, the visual fields showed: Central scotoma. The central vision was: unknown. ERG showed: unknown." "46y" "" "diagnosis" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263987" "04214" "00368649" "01695" "Unknown" "" "At the age of 52, the visual acuity was: R-20/400 L-20/40, the visual fields showed: Central scotoma. The central vision was: unknown. ERG showed: Rod-slight decreased cone-normal." "41y" "" "diagnosis" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263988" "04214" "00368650" "01695" "Unknown" "" "At the age of unknown, the visual acuity was: unknown, the visual fields showed: unknown. The central vision was: unknown. ERG showed: unknown." "" "" "diagnosis" "" "" "" "" "" "" "" ""
"0000263989" "04214" "00368651" "01695" "Unknown" "" "At the age of unknown, the visual acuity was: unknown, the visual fields showed: unknown. The central vision was: unknown. ERG showed: unknown." "" "" "diagnosis" "" "" "" "" "" "" "" ""
"0000263990" "04214" "00368652" "01695" "Unknown" "" "At the age of unknown, the visual acuity was: unknown, the visual fields showed: unknown. The central vision was: unknown. ERG showed: unknown." "" "" "diagnosis" "" "" "" "" "" "" "" ""
"0000263991" "04214" "00368653" "01695" "Unknown" "" "At the age of 57, the visual acuity was: R-20/400 L-CF, the visual fields showed: Peripheral island. The central vision was: Severe. ERG showed: Rod-decreased cone-decreased." "14y" "" "diagnosis" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000263992" "04214" "00368654" "01695" "Unknown" "" "At the age of 52, the visual acuity was: R-20/200 L-20/200, the visual fields showed: unknown. The central vision was: unknown. ERG showed: unknown." "14y" "" "diagnosis" "" "" "" "" "" "" "" ""
"0000263993" "04214" "00368655" "01695" "Unknown" "" "At the age of 51, the visual acuity was: R-CF L-20/400, the visual fields showed: unknown. The central vision was: unknown. ERG showed: unknown." "20y" "" "diagnosis" "" "" "" "" "" "" "" ""
"0000263994" "04214" "00368656" "01695" "Unknown" "" "At the age of unknown, the visual acuity was: unknown, the visual fields showed: unknown. The central vision was: unknown. ERG showed: unknown." "" "" "diagnosis" "" "" "" "" "" "" "" ""
"0000263995" "04214" "00368657" "01695" "Unknown" "" "At the age of unknown, the visual acuity was: unknown, the visual fields showed: unknown. The central vision was: unknown. ERG showed: unknown." "" "" "diagnosis" "" "" "" "" "" "" "" ""
"0000263996" "04214" "00368658" "01695" "Unknown" "" "At the age of 36, the visual acuity was: R-20/20 L-20/25, the visual fields showed: Small Central scotomas. The central vision was: normal. ERG showed: unknown." "34y" "" "diagnosis" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263997" "04214" "00368659" "01695" "Unknown" "" "At the age of 32, the visual acuity was: R-20/50?1 L-20/40?1, the visual fields showed: Central scotoma. The central vision was: unknown. ERG showed: Rod-slight decreased cone-slight decreased." "12y" "" "diagnosis" "" "" "" "" "" "" "" ""
"0000263998" "04214" "00368660" "01695" "Unknown" "" "At the age of 50, the visual acuity was: R-20/80 L-20/150, the visual fields showed: Small Central scotomas. The central vision was: unknown. ERG showed: Rod-slight decreased cone-normal." "" "" "diagnosis" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000263999" "04214" "00368661" "01695" "Unknown" "" "At the age of unknown, the visual acuity was: unknown, the visual fields showed: unknown. The central vision was: unknown. ERG showed: unknown." "" "" "diagnosis" "" "" "" "" "" "" "" ""
"0000264000" "04214" "00368662" "01695" "Unknown" "" "At the age of 47, the visual acuity was: L-20/20 R-20/20, the visual fields showed: Normal. The central vision was: unknown. ERG showed: unknown." "45y" "" "diagnosis" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264001" "04214" "00368663" "01695" "Unknown" "" "At the age of 28y, the ERG showed: - and the BCVA (OD/OS) was CF/CF" "13y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264002" "04214" "00368664" "01695" "Unknown" "" "At the age of 22y, the ERG showed: - and the BCVA (OD/OS) was 0.2/0.3" "10y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264003" "04214" "00368665" "01695" "Unknown" "" "At the age of 48y, the ERG showed: Normal and the BCVA (OD/OS) was 0.12/0.16" "18y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264004" "04214" "00368666" "01695" "Unknown" "" "" "6y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264005" "04214" "00368667" "01695" "Unknown" "" "At the age of 29y, the ERG showed: - and the BCVA (OD/OS) was CF/CF" "7y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264006" "04214" "00368668" "01695" "Unknown" "" "At the age of 14y, the ERG showed: - and the BCVA (OD/OS) was CF/CF" "8y" "" "first symptoms" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000264007" "04214" "00368669" "01695" "Unknown" "" "At the age of 24y, the ERG showed: Normal and the BCVA (OD/OS) was 0.1/0.1" "18y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264008" "04214" "00368670" "01695" "Unknown" "" "At the age of 10y, the ERG showed: Normal and the BCVA (OD/OS) was 0.1/0.1" "6y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264009" "04214" "00368671" "01695" "Unknown" "" "At the age of 31y, the ERG showed: - and the BCVA (OD/OS) was CF/CF" "14y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264010" "04214" "00368672" "01695" "Unknown" "" "At the age of 30y, the ERG showed: - and the BCVA (OD/OS) was 0.1/<0.05" "13y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264011" "04214" "00368673" "01695" "Unknown" "" "At the age of 14y, the ERG showed: Scotopic and photopic extinguised and the BCVA (OD/OS) was 0.1/0.1" "9y" "" "first symptoms" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000264012" "04214" "00368674" "01695" "Unknown" "" "At the age of 59y, the ERG showed: - and the BCVA (OD/OS) was <0.05/<0.05" "53y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264013" "04214" "00368675" "01695" "Unknown" "" "At the age of 41y, the ERG showed: - and the BCVA (OD/OS) was 0.1/0.1" "25y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264014" "04214" "00368676" "01695" "Unknown" "" "" "" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264015" "04214" "00368677" "01695" "Unknown" "" "" "" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264016" "04214" "00368678" "01695" "Unknown" "" "" "12y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264017" "04214" "00368679" "01695" "Unknown" "" "" "" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264018" "04214" "00368680" "01695" "Unknown" "" "At the age of 32y, the ERG showed: - and the BCVA (OD/OS) was <0.05/<0.05" "" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264019" "04214" "00368681" "01695" "Unknown" "" "" "" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264020" "04214" "00368682" "01695" "Unknown" "" "At the age of 44y, the ERG showed: - and the BCVA (OD/OS) was 0.1/0.1" "26y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264021" "04214" "00368683" "01695" "Unknown" "" "At the age of 40y, the ERG showed: - and the BCVA (OD/OS) was 0.05/0.05" "11y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264022" "04214" "00368684" "01695" "Unknown" "" "At the age of 76y, the ERG showed: Normal and the BCVA (OD/OS) was HM/HM" "55y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264023" "04214" "00368685" "01695" "Unknown" "" "" "12y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264024" "04214" "00368686" "01695" "Unknown" "" "" "" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264025" "04214" "00368687" "01695" "Unknown" "" "" "" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264026" "04214" "00368688" "01695" "Unknown" "" "At the age of 13y, the ERG showed: Cone-pattern and the BCVA (OD/OS) was 0.1/0.2" "11y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264027" "04214" "00368689" "01695" "Unknown" "" "" "14y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264028" "04214" "00368690" "01695" "Unknown" "" "" "" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264029" "04214" "00368691" "01695" "Unknown" "" "" "8y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264030" "04214" "00368692" "01695" "Unknown" "" "At the age of 46y, the ERG showed: Cone-pattern and the BCVA (OD/OS) was 0.05/0.05" "44y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264031" "04214" "00368693" "01695" "Unknown" "" "At the age of 36y, the ERG showed: - and the BCVA (OD/OS) was 0.3/0.3" "24y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264032" "04214" "00368694" "01695" "Unknown" "" "At the age of 19y, the ERG showed: - and the BCVA (OD/OS) was 0.2/0.2" "18y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264033" "04214" "00368695" "01695" "Unknown" "" "At the age of 23y, the ERG showed: Cone-pattern and the BCVA (OD/OS) was 0.1/0.16" "15y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264034" "04214" "00368696" "01695" "Unknown" "" "" "55y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264035" "04214" "00368697" "01695" "Unknown" "" "" "" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264036" "04214" "00368698" "01695" "Unknown" "" "At the age of 24y, the ERG showed: - and the BCVA (OD/OS) was 0.1/0.1" "9y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264037" "04214" "00368699" "01695" "Unknown" "" "At the age of 64y-67y, the ERG showed: - and the BCVA (OD/OS) was 0.9/0.2-0.1/HM" "51y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264038" "04214" "00368700" "01695" "Unknown" "" "At the age of 35y, the ERG showed: Normal and the BCVA (OD/OS) was 0.05/0.01" "22y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264039" "04214" "00368701" "01695" "Unknown" "" "At the age of 50y, the ERG showed: - and the BCVA (OD/OS) was 0.05/0.02" "25y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264040" "04214" "00368702" "01695" "Unknown" "" "" "10y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264041" "04214" "00368703" "01695" "Unknown" "" "" "16y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264042" "04214" "00368704" "01695" "Unknown" "" "At the age of 33y, the ERG showed: - and the BCVA (OD/OS) was 0.1/0.07" "29y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264043" "04214" "00368705" "01695" "Unknown" "" "At the age of 18y, the ERG showed: - and the BCVA (OD/OS) was 0.1/0.1" "9y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264044" "04214" "00368706" "01695" "Unknown" "" "At the age of 18y, the ERG showed: - and the BCVA (OD/OS) was 0.14/0.14" "14y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264045" "04214" "00368707" "01695" "Unknown" "" "" "" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264046" "04214" "00368708" "01695" "Unknown" "" "" "" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264047" "04214" "00368709" "01695" "Unknown" "" "At the age of 36y, the ERG showed: Cone-rod pattern and the BCVA (OD/OS) was 0.1/0.1" "13y" "" "first symptoms" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000264048" "04214" "00368710" "01695" "Unknown" "" "" "" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264049" "04214" "00368711" "01695" "Unknown" "" "At the age of 20y, the ERG showed: Normal and the BCVA (OD/OS) was -" "" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264050" "04214" "00368712" "01695" "Unknown" "" "At the age of 30y, the ERG showed: Cone-pattern and the BCVA (OD/OS) was 0.1/0.1" "8y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264051" "04214" "00368713" "01695" "Unknown" "" "At the age of 30y, the ERG showed: - and the BCVA (OD/OS) was CF/0.1" "8y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264052" "04214" "00368714" "01695" "Unknown" "" "At the age of 10y, the ERG showed: Cone-rod pattern and the BCVA (OD/OS) was 0.2/0.2" "10y" "" "first symptoms" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000264053" "04214" "00368715" "01695" "Unknown" "" "At the age of 44y, the ERG showed: - and the BCVA (OD/OS) was <0.1/.0.1" "30y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264054" "04214" "00368716" "01695" "Unknown" "" "At the age of 10y, the ERG showed: - and the BCVA (OD/OS) was 0.05/0.01" "9y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264055" "04214" "00368717" "01695" "Unknown" "" "At the age of 32y, the ERG showed: Normal and the BCVA (OD/OS) was 0.1/0.1" "15y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264056" "04214" "00368718" "01695" "Unknown" "" "" "17y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264057" "04214" "00368719" "01695" "Unknown" "" "" "12y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264058" "04214" "00368720" "01695" "Unknown" "" "At the age of 36y, the ERG showed: Cone-rod pattern and the BCVA (OD/OS) was 0.05/0.05" "8y" "" "first symptoms" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000264059" "04214" "00368721" "01695" "Unknown" "" "" "" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264060" "04214" "00368722" "01695" "Unknown" "" "" "" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264061" "04214" "00368723" "01695" "Unknown" "" "" "" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264062" "04214" "00368724" "01695" "Unknown" "" "At the age of 58y, the ERG showed: - and the BCVA (OD/OS) was 0.05/0.05" "" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264063" "04214" "00368725" "01695" "Unknown" "" "At the age of 35y, the ERG showed: - and the BCVA (OD/OS) was CF/CF" "9y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264064" "04214" "00368726" "01695" "Unknown" "" "At the age of 16y, the ERG showed: - and the BCVA (OD/OS) was 0.7/0.2" "15y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264065" "04214" "00368727" "01695" "Unknown" "" "" "25y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264066" "04214" "00368728" "01695" "Unknown" "" "At the age of 28y, the ERG showed: Normal and the BCVA (OD/OS) was -" "11y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264067" "04214" "00368729" "01695" "Unknown" "" "" "" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264068" "04214" "00368730" "01695" "Unknown" "" "At the age of 29y, the ERG showed: - and the BCVA (OD/OS) was 0.01/0.01" "17y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264069" "04214" "00368731" "01695" "Unknown" "" "" "9y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264070" "04214" "00368732" "01695" "Unknown" "" "At the age of 7y, the ERG showed: Cone-pattern and the BCVA (OD/OS) was 0.1/0.1" "6y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264071" "04214" "00368733" "01695" "Unknown" "" "" "" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264072" "04214" "00368734" "01695" "Unknown" "" "At the age of 39y, the ERG showed: Cone-rod pattern and the BCVA (OD/OS) was 0.1/0.1" "19y" "" "first symptoms" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000264073" "04214" "00368735" "01695" "Unknown" "" "At the age of 15y, the ERG showed: Cone-pattern and the BCVA (OD/OS) was 0.15/0.15" "14y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264074" "04214" "00368736" "01695" "Unknown" "" "" "" "" "first symptoms" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000264075" "04214" "00368737" "01695" "Unknown" "" "" "" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264076" "04214" "00368738" "01695" "Unknown" "" "At the age of 31y, the ERG showed: - and the BCVA (OD/OS) was 0.01/0.1" "6y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264077" "04214" "00368739" "01695" "Unknown" "" "At the age of 21y, the ERG showed: - and the BCVA (OD/OS) was 0.05/0.05" "13y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264078" "04214" "00368740" "01695" "Unknown" "" "" "40y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264079" "04214" "00368741" "01695" "Unknown" "" "At the age of 35y, the ERG showed: Normal and the BCVA (OD/OS) was 0.1/0.1" "29y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264080" "04214" "00368742" "01695" "Unknown" "" "At the age of 15y, the ERG showed: Cone-pattern and the BCVA (OD/OS) was 0.2/0.2" "13y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264081" "04214" "00368743" "01695" "Unknown" "" "At the age of 30y, the ERG showed: Normal and the BCVA (OD/OS) was 0.2/0.1" "23y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264082" "04214" "00368744" "01695" "Unknown" "" "" "" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264083" "04214" "00368745" "01695" "Unknown" "" "" "32y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264084" "04214" "00368746" "01695" "Unknown" "" "At the age of 62y, the ERG showed: - and the BCVA (OD/OS) was 0.8/0.16" "61y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264085" "04214" "00368747" "01695" "Unknown" "" "" "" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264086" "04214" "00368748" "01695" "Unknown" "" "At the age of 15y, the ERG showed: Normal and the BCVA (OD/OS) was 0.05/0.05" "10y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264087" "04214" "00368749" "01695" "Unknown" "" "At the age of 25y, the ERG showed: - and the BCVA (OD/OS) was CF/0.1" "7y" "" "first symptoms" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000264088" "04214" "00368750" "01695" "Unknown" "" "At the age of 26y, the ERG showed: Normal and the BCVA (OD/OS) was -" "14y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264089" "04214" "00368751" "01695" "Unknown" "" "" "36y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264090" "04214" "00368752" "01695" "Unknown" "" "At the age of 53y, the ERG showed: - and the BCVA (OD/OS) was PL/PL" "22y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264091" "04214" "00368753" "01695" "Unknown" "" "At the age of 13y, the ERG showed: Cone-rod pattern and the BCVA (OD/OS) was 0.3/0.2" "11y" "" "first symptoms" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000264092" "04214" "00368754" "01695" "Unknown" "" "At the age of 45y, the ERG showed: - and the BCVA (OD/OS) was 0/0.004" "27y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264093" "04214" "00368755" "01695" "Unknown" "" "" "" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264094" "04214" "00368756" "01695" "Unknown" "" "" "" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264095" "04214" "00368757" "01695" "Unknown" "" "" "41y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264096" "04214" "00368758" "01695" "Unknown" "" "At the age of 39y, the ERG showed: - and the BCVA (OD/OS) was HM/HM" "10y" "" "first symptoms" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000264097" "04214" "00368759" "01695" "Unknown" "" "At the age of 17y, the ERG showed: Normal and the BCVA (OD/OS) was 0.1/0.1" "" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264098" "04214" "00368760" "01695" "Unknown" "" "At the age of 41y, the ERG showed: Cone-pattern and the BCVA (OD/OS) was 0.05/0.1" "26y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264099" "04214" "00368761" "01695" "Unknown" "" "At the age of 48y, the ERG showed: Cone-pattern and the BCVA (OD/OS) was CF/CF" "25y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264100" "04214" "00368762" "01695" "Unknown" "" "" "" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264101" "04214" "00368763" "01695" "Unknown" "" "At the age of 28y, the ERG showed: - and the BCVA (OD/OS) was 0.05/CF" "11y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264102" "04214" "00368764" "01695" "Unknown" "" "At the age of 17y, the ERG showed: Cone-pattern and the BCVA (OD/OS) was 0.4/0.3" "14y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264103" "04214" "00368765" "01695" "Unknown" "" "" "" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264104" "04214" "00368766" "01695" "Unknown" "" "" "" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264105" "04214" "00368767" "01695" "Unknown" "" "At the age of 45y, the ERG showed: - and the BCVA (OD/OS) was 0.1/0.1" "26y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264106" "04214" "00368768" "01695" "Unknown" "" "At the age of 20y, the ERG showed: Normal and the BCVA (OD/OS) was 0.2/0.2" "6y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264107" "04214" "00368769" "01695" "Unknown" "" "At the age of 25y, the ERG showed: - and the BCVA (OD/OS) was 0.1/0.1" "8y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264108" "04214" "00368770" "01695" "Unknown" "" "" "47y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264109" "04214" "00368771" "01695" "Unknown" "" "" "12y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264110" "04214" "00368772" "01695" "Unknown" "" "" "" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264111" "04214" "00368773" "01695" "Unknown" "" "" "20y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264112" "04214" "00368774" "01695" "Unknown" "" "" "" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264113" "04214" "00368775" "01695" "Unknown" "" "At the age of 19y, the ERG showed: - and the BCVA (OD/OS) was 0.1/0.1" "16y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264114" "04214" "00368776" "01695" "Unknown" "" "At the age of 42y, the ERG showed: Normal and the BCVA (OD/OS) was CF/CF" "35y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264115" "04214" "00368777" "01695" "Unknown" "" "At the age of 32y, the ERG showed: Normal and the BCVA (OD/OS) was 0.16/0.16" "22y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264116" "04214" "00368778" "01695" "Unknown" "" "At the age of 28y-44y, the ERG showed: Normal and the BCVA (OD/OS) was 0.2/0.2-0.3/0.5" "26y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264117" "04214" "00368779" "01695" "Unknown" "" "At the age of 24y-28y , the ERG showed: Normal and the BCVA (OD/OS) was 0.6/0.6-0.1/0.1" "22y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264118" "04214" "00368780" "01695" "Unknown" "" "At the age of 32y, the ERG showed: - and the BCVA (OD/OS) was CF/0.3" "29y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264119" "04214" "00368781" "01695" "Unknown" "" "At the age of 40y, the ERG showed: - and the BCVA (OD/OS) was 0.05/0.05" "5y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264120" "04214" "00368782" "01695" "Unknown" "" "At the age of 37y, the ERG showed: - and the BCVA (OD/OS) was 0.05/0.05" "" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264121" "04214" "00368783" "01695" "Unknown" "" "" "" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264122" "04214" "00368784" "01695" "Unknown" "" "At the age of 21y, the ERG showed: Cone-pattern and the BCVA (OD/OS) was 0.05/0.05" "9y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264123" "04214" "00368785" "01695" "Unknown" "" "" "" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264124" "04214" "00368786" "01695" "Unknown" "" "" "17y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264125" "04214" "00368787" "01695" "Unknown" "" "At the age of 25y, the ERG showed: - and the BCVA (OD/OS) was CF/0.05" "" "" "first symptoms" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000264126" "04214" "00368788" "01695" "Unknown" "" "At the age of 40y, the ERG showed: - and the BCVA (OD/OS) was 0.05/0.1" "30y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264127" "04214" "00368789" "01695" "Unknown" "" "" "13y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264128" "04214" "00368790" "01695" "Unknown" "" "" "38y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264129" "04214" "00368791" "01695" "Unknown" "" "" "8y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264130" "04214" "00368792" "01695" "Unknown" "" "At the age of 20y, the ERG showed: - and the BCVA (OD/OS) was CF/CF" "5y" "" "first symptoms" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000264131" "04214" "00368793" "01695" "Unknown" "" "At the age of 34y, the ERG showed: Normal and the BCVA (OD/OS) was 0.2/0.2" "27y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264132" "04214" "00368794" "01695" "Unknown" "" "At the age of 19y, the ERG showed: Cone-pattern and the BCVA (OD/OS) was 0.2/0.2" "27y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264133" "04214" "00368795" "01695" "Unknown" "" "At the age of 9y, the ERG showed: - and the BCVA (OD/OS) was 0.05/0.05" "8y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264134" "04214" "00368796" "01695" "Unknown" "" "At the age of 32y, the ERG showed: Cone-rod pattern and the BCVA (OD/OS) was -" "10y" "" "first symptoms" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000264135" "04214" "00368797" "01695" "Unknown" "" "" "36y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264136" "04214" "00368798" "01695" "Unknown" "" "At the age of 26y, the ERG showed: - and the BCVA (OD/OS) was 0.05/0.05" "6y" "" "first symptoms" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000264137" "04214" "00368799" "01695" "Unknown" "" "" "12y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264138" "04214" "00368800" "01695" "Unknown" "" "At the age of 20y, the ERG showed: - and the BCVA (OD/OS) was CF/CF" "" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264139" "04214" "00368801" "01695" "Unknown" "" "At the age of 25y, the ERG showed: - and the BCVA (OD/OS) was 0.1/0.1" "4y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264140" "04214" "00368802" "01695" "Unknown" "" "At the age of 37y, the ERG showed: - and the BCVA (OD/OS) was 0.05/0.1" "11y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264141" "04214" "00368803" "01695" "Unknown" "" "At the age of 26y, the ERG showed: Normal and the BCVA (OD/OS) was 0.4/0.4" "22y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264142" "04214" "00368804" "01695" "Unknown" "" "At the age of 37y, the ERG showed: - and the BCVA (OD/OS) was 0.08/0.05" "5y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264143" "04214" "00368805" "01695" "Unknown" "" "At the age of 53y, the ERG showed: - and the BCVA (OD/OS) was 0.1/0.1" "33y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264144" "04214" "00368806" "01695" "Unknown" "" "" "26y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264145" "04214" "00368807" "01695" "Unknown" "" "" "" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264146" "04214" "00368808" "01695" "Unknown" "" "" "" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264147" "04214" "00368809" "01695" "Unknown" "" "At the age of 41y, the ERG showed: Normal and the BCVA (OD/OS) was CF/CF" "10y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264148" "04214" "00368810" "01695" "Unknown" "" "At the age of 19y, the ERG showed: Normal and the BCVA (OD/OS) was 0.16/0.16" "18y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264149" "04214" "00368811" "01695" "Unknown" "" "At the age of 72, the ERG showed: - and the BCVA (OD/OS) was 43831" "72y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264150" "04214" "00368812" "01695" "Unknown" "" "At the age of 14y, the ERG showed: Normal and the BCVA (OD/OS) was 0.2/0.2" "11y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264151" "04214" "00368813" "01695" "Unknown" "" "At the age of 10y, the ERG showed: Normal and the BCVA (OD/OS) was CF/0.3" "" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264152" "04214" "00368814" "01695" "Unknown" "" "" "" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264153" "04214" "00368815" "01695" "Unknown" "" "" "15y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264154" "04214" "00368816" "01695" "Unknown" "" "" "" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264155" "04214" "00368817" "01695" "Unknown" "" "At the age of 23y-32y, the ERG showed: - and the BCVA (OD/OS) was 0.1/0.1" "19y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264156" "04214" "00368818" "01695" "Unknown" "" "At the age of 51y, the ERG showed: - and the BCVA (OD/OS) was 0.2/0.2" "" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264157" "04214" "00368819" "01695" "Unknown" "" "At the age of 11y, the ERG showed: Cone-pattern and the BCVA (OD/OS) was 0.3/0.3" "" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264158" "04214" "00368820" "01695" "Unknown" "" "At the age of 34y, the ERG showed: - and the BCVA (OD/OS) was 0.16/0.1" "" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264159" "04214" "00368821" "01695" "Unknown" "" "At the age of 16y, the ERG showed: - and the BCVA (OD/OS) was 0.05/0.1" "15y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264160" "04214" "00368822" "01695" "Unknown" "" "" "24y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264161" "04214" "00368823" "01695" "Unknown" "" "At the age of 15y, the ERG showed: - and the BCVA (OD/OS) was CF/CF" "7y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264162" "04214" "00368824" "01695" "Unknown" "" "At the age of 33y, the ERG showed: Cone-rod pattern and the BCVA (OD/OS) was 1.2/1.2" "25y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264163" "04214" "00368825" "01695" "Unknown" "" "At the age of 15y, the ERG showed: - and the BCVA (OD/OS) was 0.05/0.05" "14y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264164" "04214" "00368826" "01695" "Unknown" "" "" "" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264165" "04214" "00368827" "01695" "Unknown" "" "" "" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264166" "04214" "00368828" "01695" "Unknown" "" "" "" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264167" "04214" "00368829" "01695" "Unknown" "" "" "" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264168" "04214" "00368830" "01695" "Unknown" "" "At the age of 51y, the ERG showed: - and the BCVA (OD/OS) was CF/0.05" "15y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264169" "04214" "00368831" "01695" "Unknown" "" "" "" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264170" "04214" "00368832" "01695" "Unknown" "" "At the age of 54y, the ERG showed: - and the BCVA (OD/OS) was CF/CF" "39y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264171" "04214" "00368833" "01695" "Unknown" "" "At the age of 30y, the ERG showed: - and the BCVA (OD/OS) was 0.1/0.1" "18y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264172" "04214" "00368834" "01695" "Unknown" "" "At the age of 9y, the ERG showed: - and the BCVA (OD/OS) was 0.05/0.1" "8y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264173" "04214" "00368835" "01695" "Unknown" "" "At the age of 40y, the ERG showed: Normal and the BCVA (OD/OS) was 0.6/0.2" "38y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264174" "04214" "00368836" "01695" "Unknown" "" "At the age of 18y, the ERG showed: Normal and the BCVA (OD/OS) was 0.2/0.16" "12y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264175" "04214" "00368837" "01695" "Unknown" "" "At the age of 13y, the ERG showed: Cone-rod pattern and the BCVA (OD/OS) was 0.05/0.1" "10y" "" "first symptoms" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000264176" "04214" "00368838" "01695" "Unknown" "" "" "" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264177" "04214" "00368839" "01695" "Unknown" "" "At the age of 26y, the ERG showed: - and the BCVA (OD/OS) was 0.1/0.1" "17y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264178" "04214" "00368840" "01695" "Unknown" "" "" "17y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264179" "04214" "00368841" "01695" "Unknown" "" "At the age of 10y, the ERG showed: - and the BCVA (OD/OS) was 0.1/0.1" "9y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264180" "04214" "00368842" "01695" "Unknown" "" "At the age of 12y, the ERG showed: Normal and the BCVA (OD/OS) was 0.1/0.12" "10y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264181" "04214" "00368843" "01695" "Unknown" "" "" "" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264182" "04214" "00368844" "01695" "Unknown" "" "At the age of 55y, the ERG showed: - and the BCVA (OD/OS) was 0.1/0.05" "35y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264183" "04214" "00368845" "01695" "Unknown" "" "" "24y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264184" "04214" "00368846" "01695" "Unknown" "" "At the age of 15y, the ERG showed: Cone-pattern and the BCVA (OD/OS) was 0.05/0.6" "14y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264185" "04214" "00368847" "01695" "Unknown" "" "At the age of 8y, the ERG showed: - and the BCVA (OD/OS) was 0.125/0.04" "7y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264186" "04214" "00368848" "01695" "Unknown" "" "" "" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264187" "04214" "00368849" "01695" "Unknown" "" "At the age of 10y, the ERG showed: - and the BCVA (OD/OS) was 0.16/0.4" "9y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264188" "04214" "00368850" "01695" "Unknown" "" "At the age of 48y, the ERG showed: - and the BCVA (OD/OS) was 0.2/HM" "23y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264189" "04214" "00368851" "01695" "Unknown" "" "" "" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264190" "04214" "00368852" "01695" "Unknown" "" "At the age of 26y, the ERG showed: Normal and the BCVA (OD/OS) was 0.15/0.8" "18y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264191" "04214" "00368853" "01695" "Unknown" "" "" "" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264192" "04214" "00368854" "01695" "Unknown" "" "" "" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264193" "04214" "00368855" "01695" "Unknown" "" "" "" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264194" "04214" "00368856" "01695" "Unknown" "" "At the age of 48y, the ERG showed: Normal and the BCVA (OD/OS) was -" "" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264195" "04214" "00368857" "01695" "Unknown" "" "At the age of 48y, the ERG showed: Normal and the BCVA (OD/OS) was 0.8/0.6" "44y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264196" "04214" "00368858" "01695" "Unknown" "" "At the age of 14y, the ERG showed: Cone-pattern and the BCVA (OD/OS) was 0.16/0.16" "5y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264197" "04214" "00368859" "01695" "Unknown" "" "At the age of 19y, the ERG showed: Normal and the BCVA (OD/OS) was 43831" "9y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264198" "04214" "00368860" "01695" "Unknown" "" "" "" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264199" "04214" "00368861" "01695" "Unknown" "" "At the age of 49y, the ERG showed: - and the BCVA (OD/OS) was 43831" "47y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264200" "04214" "00368862" "01695" "Unknown" "" "At the age of 25y, the ERG showed: Normal and the BCVA (OD/OS) was 0.3/0.4" "22y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264201" "04214" "00368863" "01695" "Unknown" "" "At the age of 53y, the ERG showed: Cone-pattern and the BCVA (OD/OS) was 0.05/0.05" "10y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264202" "04214" "00368864" "01695" "Unknown" "" "" "" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264203" "04214" "00368865" "01695" "Unknown" "" "At the age of 50y, the ERG showed: - and the BCVA (OD/OS) was 0.3/0.2" "" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264204" "04214" "00368866" "01695" "Unknown" "" "" "" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264205" "04214" "00368867" "01695" "Unknown" "" "At the age of 27y, the ERG showed: Normal and the BCVA (OD/OS) was 0.2/0.2" "19y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264206" "04214" "00368868" "01695" "Unknown" "" "" "9y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264207" "04214" "00368869" "01695" "Unknown" "" "At the age of 50y, the ERG showed: - and the BCVA (OD/OS) was 0.05/0.05" "13y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264208" "04214" "00368870" "01695" "Unknown" "" "At the age of 10y, the ERG showed: Normal and the BCVA (OD/OS) was 0.2/0.16" "9y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264209" "04214" "00368871" "01695" "Unknown" "" "" "" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264210" "04214" "00368872" "01695" "Unknown" "" "At the age of 46y, the ERG showed: Normal and the BCVA (OD/OS) was 43831" "46y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264211" "04214" "00368873" "01695" "Unknown" "" "At the age of 31y, the ERG showed: Normal and the BCVA (OD/OS) was 0.05/0.1" "30y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264212" "04214" "00368874" "01695" "Unknown" "" "At the age of 29y, the ERG showed: Cone-rod pattern and the BCVA (OD/OS) was 0.05/0.05" "9y" "" "first symptoms" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000264213" "04214" "00368875" "01695" "Unknown" "" "At the age of 22y, the ERG showed: - and the BCVA (OD/OS) was 0.5/0.6" "22y" "" "first symptoms" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000264214" "04214" "00368876" "01695" "Unknown" "" "At the age of 46y, the ERG showed: - and the BCVA (OD/OS) was 0.2/0.3" "42y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264215" "04214" "00368877" "01695" "Unknown" "" "" "20y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264216" "04214" "00368878" "01695" "Unknown" "" "" "" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264217" "04214" "00368879" "01695" "Unknown" "" "At the age of 70y, the ERG showed: - and the BCVA (OD/OS) was 0.05/0.05" "20y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264218" "04214" "00368880" "01695" "Unknown" "" "At the age of 52y, the ERG showed: - and the BCVA (OD/OS) was 0.014/0.014" "30y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264219" "04214" "00368881" "01695" "Unknown" "" "At the age of 30y, the ERG showed: Normal and the BCVA (OD/OS) was 0.1/0.1" "14y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264220" "04214" "00368882" "01695" "Unknown" "" "At the age of 44y, the ERG showed: - and the BCVA (OD/OS) was 0.1/0.05" "12y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264221" "04214" "00368883" "01695" "Unknown" "" "At the age of 20y, the ERG showed: - and the BCVA (OD/OS) was 0.1/0.05" "15y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264222" "04214" "00368884" "01695" "Unknown" "" "At the age of 37y, the ERG showed: - and the BCVA (OD/OS) was 0.05/0.1" "16y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264223" "04214" "00368885" "01695" "Unknown" "" "At the age of 62y, the ERG showed: - and the BCVA (OD/OS) was CF/CF" "25y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264224" "04214" "00368886" "01695" "Unknown" "" "At the age of 55y, the ERG showed: - and the BCVA (OD/OS) was 0.3/0.1" "35y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264225" "04214" "00368887" "01695" "Unknown" "" "At the age of 56y, the ERG showed: - and the BCVA (OD/OS) was 0.1/0.1" "43y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264226" "04214" "00368888" "01695" "Unknown" "" "At the age of 13y, the ERG showed: - and the BCVA (OD/OS) was 0.1/0.1" "10y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264227" "04214" "00368889" "01695" "Unknown" "" "At the age of 19y, the ERG showed: - and the BCVA (OD/OS) was 0.1/0.1" "17y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264228" "04214" "00368890" "01695" "Unknown" "" "At the age of 8y, the ERG showed: - and the BCVA (OD/OS) was 0.1/0.1" "7y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264229" "04214" "00368891" "01695" "Unknown" "" "At the age of 58y, the ERG showed: - and the BCVA (OD/OS) was 0.1/0.05" "39y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264230" "04214" "00368892" "01695" "Unknown" "" "" "8y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264231" "04214" "00368893" "01695" "Unknown" "" "" "28y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264232" "04214" "00368894" "01695" "Unknown" "" "At the age of 60y, the ERG showed: - and the BCVA (OD/OS) was 1/40 AO" "" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264233" "04214" "00368895" "01695" "Unknown" "" "" "" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264234" "04214" "00368896" "01695" "Unknown" "" "" "" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264235" "04214" "00368897" "01695" "Unknown" "" "" "" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264236" "04214" "00368898" "01695" "Unknown" "" "" "" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264237" "04214" "00368899" "01695" "Unknown" "" "" "" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264238" "04214" "00368900" "01695" "Unknown" "" "At the age of 18y, the ERG showed: - and the BCVA (OD/OS) was 0.04/0.05" "10y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264239" "04214" "00368901" "01695" "Unknown" "" "" "" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264240" "04214" "00368902" "01695" "Unknown" "" "At the age of 25y, the ERG showed: - and the BCVA (OD/OS) was 0.02/0.02" "7y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264241" "04214" "00368903" "01695" "Unknown" "" "" "" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264242" "04214" "00368904" "01695" "Unknown" "" "" "" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264243" "04214" "00368905" "01695" "Unknown" "" "At the age of 24y, the ERG showed: - and the BCVA (OD/OS) was 0.25/0.2" "21y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264244" "04214" "00368906" "01695" "Unknown" "" "" "" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264245" "04214" "00368907" "01695" "Unknown" "" "" "" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264246" "04214" "00368908" "01695" "Unknown" "" "At the age of 15y, the ERG showed: - and the BCVA (OD/OS) was 0.1/0.1" "14y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264247" "04214" "00368909" "01695" "Unknown" "" "" "" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264248" "04214" "00368910" "01695" "Unknown" "" "At the age of 13y, the ERG showed: - and the BCVA (OD/OS) was 0.4/0.16" "" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264249" "04214" "00368911" "01695" "Unknown" "" "" "" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264250" "04214" "00368912" "01695" "Unknown" "" "" "" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264251" "04214" "00368913" "01695" "Unknown" "" "At the age of 65y, the ERG showed: Cone-pattern and the BCVA (OD/OS) was 0.05/0.05" "37y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264252" "04214" "00368914" "01695" "Unknown" "" "At the age of 56y, the ERG showed: - and the BCVA (OD/OS) was CF/CF" "11y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264253" "04214" "00368915" "01695" "Unknown" "" "At the age of 20y, the ERG showed: Cone-pattern and the BCVA (OD/OS) was 0.2/0.2" "" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264254" "04214" "00368916" "01695" "Unknown" "" "At the age of 29y, the ERG showed: Normal and the BCVA (OD/OS) was 0.15/0.15" "26y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264255" "04214" "00368917" "01695" "Unknown" "" "" "" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264256" "04214" "00368918" "01695" "Unknown" "" "" "20y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264257" "04214" "00368919" "01695" "Unknown" "" "At the age of 43y, the ERG showed: Normal and the BCVA (OD/OS) was 0.9/0.9" "40y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264258" "04214" "00368920" "01695" "Unknown" "" "" "" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264259" "04214" "00368921" "01695" "Unknown" "" "" "" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264260" "04214" "00368922" "01695" "Unknown" "" "" "" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264261" "04214" "00368923" "01695" "Unknown" "" "" "" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264262" "04214" "00368924" "01695" "Unknown" "" "At the age of 63y, the ERG showed: Normal and the BCVA (OD/OS) was 0.7/1" "45y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264263" "04214" "00368925" "01695" "Unknown" "" "" "9y" "" "first symptoms" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000264264" "04214" "00368926" "01695" "Unknown" "" "At the age of 26y, the ERG showed: - and the BCVA (OD/OS) was 0.1/0.1" "" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264265" "04214" "00368927" "01695" "Unknown" "" "At the age of 36y, the ERG showed: - and the BCVA (OD/OS) was HM/HM" "8y" "" "first symptoms" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000264266" "04214" "00368928" "01695" "Unknown" "" "At the age of 27y, the ERG showed: - and the BCVA (OD/OS) was 0.2/0.2" "24y" "" "first symptoms" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000264267" "04214" "00368929" "01695" "Unknown" "" "" "4y" "" "first symptoms" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000264268" "04214" "00368930" "01695" "Unknown" "" "At the age of 27y, the ERG showed: - and the BCVA (OD/OS) was PL/PL" "8y" "" "first symptoms" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000264269" "04214" "00368931" "01695" "Unknown" "" "At the age of 32y, the ERG showed: - and the BCVA (OD/OS) was 0.05/0.05" "13y" "" "first symptoms" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000264270" "04214" "00368932" "01695" "Unknown" "" "" "4y" "" "first symptoms" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000264271" "04214" "00368933" "01695" "Unknown" "" "At the age of 12y, the ERG showed: - and the BCVA (OD/OS) was 0.15/0.2" "9y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264272" "04214" "00368934" "01695" "Unknown" "" "At the age of 6y, the ERG showed: - and the BCVA (OD/OS) was HM/HM" "6y" "" "first symptoms" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000264273" "04214" "00368935" "01695" "Unknown" "" "" "21y" "" "first symptoms" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000264274" "04214" "00368936" "01695" "Unknown" "" "At the age of 58y, the ERG showed: - and the BCVA (OD/OS) was NPL/PL" "14y" "" "first symptoms" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000264275" "04214" "00368937" "01695" "Unknown" "" "" "" "" "first symptoms" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000264276" "04214" "00368938" "01695" "Unknown" "" "At the age of 26y, the ERG showed: - and the BCVA (OD/OS) was 0.0.5/0.05" "12y" "" "first symptoms" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000264277" "04214" "00368939" "01695" "Unknown" "" "At the age of 89y, the ERG showed: Scotopic and photopic extinguised and the BCVA (OD/OS) was LP/0.05" "30y" "" "first symptoms" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000264278" "04214" "00368940" "01695" "Unknown" "" "At the age of 41y, the ERG showed: - and the BCVA (OD/OS) was 0.1/0.1" "" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264279" "04214" "00368941" "01695" "Unknown" "" "At the age of 21y, the ERG showed: - and the BCVA (OD/OS) was 0.02/0.02" "10y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264280" "04214" "00368942" "01695" "Unknown" "" "At the age of 33y, the ERG showed: Cone-rod pattern and the BCVA (OD/OS) was 0.4/0.6" "22y" "" "first symptoms" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000264281" "04214" "00368943" "01695" "Unknown" "" "" "50y" "" "first symptoms" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000264282" "04214" "00368944" "01695" "Unknown" "" "" "" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264283" "04214" "00368945" "01695" "Unknown" "" "" "20y" "" "first symptoms" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000264284" "04214" "00368946" "01695" "Unknown" "" "" "11y" "" "first symptoms" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000264285" "04214" "00368947" "01695" "Unknown" "" "" "62y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264286" "04214" "00368948" "01695" "Unknown" "" "" "" "" "first symptoms" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000264287" "04214" "00368949" "01695" "Unknown" "" "" "15y" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264288" "04214" "00368950" "01695" "Unknown" "" "" "" "" "first symptoms" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264289" "04214" "00368951" "01695" "Familial, autosomal recessive" "" "The proband had poor vision for 8y. The visual acuity of his left and right eye was 0.1 and 0.12 respectively. Both his eyes had macular neuroepithelial layer atrophy, and the dioptric media was clear. Signs of fundus OCT showed neuro-epithelial layer thickness, high reflective slice and ellipsoid zone disruption in macular region." "5y" "" "poor vision" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264290" "04214" "00368952" "01695" "Unknown" "" "ERG: Abolished photopic and scotopic. BCVA: counting fingers for both eyese" "12y" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000264291" "04214" "00368953" "01695" "Unknown" "" "BCVA: 20–200. Macula affected" "7y" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000264292" "04214" "00368954" "01695" "Unknown" "" "" "<19y" "" "unknown" "" "" "" "" "" "" "pigmentary retinal dystrophy" ""
"0000264293" "04214" "00368955" "01695" "Unknown" "" "" "<27y" "" "unknown" "" "" "" "" "" "" "decreased vision" ""
"0000264294" "04214" "00368956" "01695" "Unknown" "" "" "<11y" "" "unknown" "" "" "" "" "" "" "Bull’s-eye maculopathy, cone dystrophy" ""
"0000264295" "04214" "00368957" "01695" "Unknown" "" "" "<14y" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000264296" "04214" "00368958" "01695" "Unknown" "" "" "<39y" "" "unknown" "" "" "" "" "" "" "cone dystrophy" ""
"0000264297" "04214" "00368959" "01695" "Unknown" "" "" "<1m" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000264298" "04214" "00368960" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "cone dystrophy" ""
"0000264299" "04214" "00368961" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000264300" "04214" "00368962" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000264301" "04214" "00368963" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "macular dystrophy" ""
"0000264302" "04214" "00368964" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264303" "04214" "00368965" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264304" "04214" "00368966" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264305" "04214" "00368967" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264306" "04214" "00368968" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264307" "04214" "00368969" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264308" "04214" "00368970" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264309" "04214" "00368971" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264310" "04214" "00368972" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264311" "04214" "00368973" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264312" "04214" "00368974" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264313" "04214" "00368975" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264314" "04214" "00368976" "01695" "Unknown" "" "At the age of 20, BCVA was 20/63 OD and 20/50 OS." "8y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264315" "04214" "00368977" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264316" "04214" "00368978" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264317" "04214" "00368979" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264318" "04214" "00368980" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264319" "04214" "00368981" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000264320" "04214" "00368982" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000264321" "04214" "00368983" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000264322" "04214" "00368984" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000264323" "04214" "00368985" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000264324" "04214" "00368986" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000264325" "04214" "00368987" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000264326" "04214" "00368988" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000264327" "04214" "00368989" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264328" "04214" "00368990" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "macular dystrophy" ""
"0000264329" "04214" "00368991" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinal dystrophy" ""
"0000264330" "04214" "00368992" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000264331" "04214" "00368993" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264332" "04214" "00368994" "01695" "Unknown" "" "abnormality of the eye" "" "" "unknown" "" "" "" "" "" "" "eye abnormality" ""
"0000264333" "04214" "00368995" "01695" "Unknown" "" "abnormality of the eye" "" "" "unknown" "" "" "" "" "" "" "eye abnormality" ""
"0000264334" "04214" "00368996" "01695" "Unknown" "" "abnormality of the eye" "" "" "unknown" "" "" "" "" "" "" "eye abnormality" ""
"0000264335" "04214" "00368997" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "macular dystrophy" ""
"0000264336" "04214" "00368998" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264337" "04214" "00368999" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "cone dystrophy" ""
"0000264338" "04214" "00369000" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "cone dystrophy" ""
"0000264339" "04214" "00369001" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinal dystrophy" ""
"0000264340" "04214" "00369002" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinal dystrophy" ""
"0000264341" "04214" "00369003" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinal dystrophy" ""
"0000264342" "04214" "00369004" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinal dystrophy" ""
"0000264343" "04214" "00369005" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinal dystrophy" ""
"0000264344" "04214" "00369006" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinal dystrophy" ""
"0000264345" "04214" "00369007" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinal dystrophy" ""
"0000264346" "04214" "00369008" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinal dystrophy" ""
"0000264347" "04214" "00369009" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000264348" "04214" "00369010" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000264349" "04214" "00369011" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000264350" "04214" "00369012" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000264351" "04214" "00369013" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000264352" "04214" "00369014" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000264353" "04214" "00369015" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000264354" "04214" "00369016" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000264355" "04214" "00369017" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000264356" "04214" "00369018" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000264357" "04214" "00369019" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000264358" "04214" "00369020" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000264359" "04214" "00369021" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000264360" "04214" "00369022" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000264361" "04214" "00369023" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000264362" "04214" "00369024" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000264363" "04214" "00369025" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000264364" "04214" "00369026" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000264365" "04214" "00369027" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000264366" "04214" "00369028" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000264367" "04214" "00369029" "01695" "Unknown" "" "" "<36y" "" "unknown" "" "" "" "" "" "" "cone dystrophy" ""
"0000264368" "04214" "00369030" "01695" "Unknown" "" "" "<41y" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000264369" "04214" "00369031" "01695" "Unknown" "" "" "<26y" "" "unknown" "" "" "" "" "" "" "cone dystrophy" ""
"0000264370" "04214" "00369032" "01695" "Unknown" "" "" "<13y" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000264371" "04214" "00369033" "01695" "Unknown" "" "" "<49y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264372" "04214" "00369034" "01695" "Unknown" "" "" "<27y" "" "unknown" "" "" "" "" "" "" "macular dystrophy" ""
"0000264373" "04214" "00369035" "01695" "Unknown" "" "" "<27y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264374" "04214" "00369036" "01695" "Unknown" "" "" "<49y" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000264375" "04214" "00369037" "01695" "Familial, autosomal recessive" "" "" "" "" "unknown" "" "" "" "" "" "" "cone dystrophy" ""
"0000264376" "04214" "00369038" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "Leber congenital ameurosis" ""
"0000264377" "04214" "00369039" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264378" "04214" "00369040" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "macular dystrophy" ""
"0000264379" "04214" "00369041" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264380" "04214" "00369042" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000264381" "04214" "00369043" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000264382" "04214" "00369044" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000264383" "04214" "00369045" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "CSNB" ""
"0000264384" "04214" "00369046" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264385" "04214" "00369047" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000264386" "04214" "00369048" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinal dystrophy" ""
"0000264387" "04214" "00369049" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinal dystrophy" ""
"0000264388" "04214" "00369050" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264389" "04214" "00369051" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264390" "04214" "00369052" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264391" "04214" "00369053" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000264392" "04214" "00369054" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000264393" "04214" "00369055" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "macular dystrophy" ""
"0000264394" "04214" "00369056" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264395" "04214" "00369057" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "cone dystrophy" ""
"0000264396" "04214" "00369058" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000264397" "04214" "00369059" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000264398" "04214" "00369060" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000264399" "04214" "00369061" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264400" "04214" "00369062" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "macular dystrophy" ""
"0000264401" "04214" "00369063" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinal dystrophy" ""
"0000264402" "04214" "00369064" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264403" "04214" "00369065" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264404" "04214" "00369066" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinal dystrophy" ""
"0000264405" "04214" "00369067" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinal dystrophy" ""
"0000264406" "04214" "00369068" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264407" "04214" "00369069" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264408" "04214" "00369070" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinal dystrophy" ""
"0000264409" "04214" "00369071" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinal dystrophy" ""
"0000264410" "04214" "00369072" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264411" "04214" "00369073" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264412" "04214" "00369074" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264413" "04214" "00369075" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264414" "04214" "00369076" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264415" "04214" "00369077" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264416" "04214" "00369078" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264417" "04214" "00369079" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264418" "04214" "00369080" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264419" "04214" "00369081" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264420" "04214" "00369082" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinal dystrophy" ""
"0000264421" "04214" "00369083" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "macular dystrophy" ""
"0000264422" "04214" "00369084" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264423" "04214" "00369085" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264424" "04214" "00369086" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264425" "04214" "00369087" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000264426" "04214" "00369088" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000264427" "04214" "00369089" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "macular dystrophy" ""
"0000264428" "04214" "00369090" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264429" "04214" "00369091" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264430" "04214" "00369092" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264431" "04214" "00369093" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264432" "04214" "00369094" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264433" "04214" "00369095" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264434" "04214" "00369096" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264435" "04214" "00369097" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinal dystrophy" ""
"0000264436" "04214" "00369098" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264437" "04214" "00369099" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinal dystrophy" ""
"0000264438" "04214" "00369100" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000264439" "04214" "00369101" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinal dystrophy" ""
"0000264440" "04214" "00369102" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264441" "04214" "00369103" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264442" "04214" "00369104" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "macular dystrophy" ""
"0000264443" "04214" "00369105" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000264444" "04214" "00369106" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264445" "04214" "00369107" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinal dystrophy" ""
"0000264446" "04214" "00369108" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "cone dystrophy" ""
"0000264447" "04214" "00369109" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinal dystrophy" ""
"0000264448" "04214" "00369110" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinal dystrophy" ""
"0000264449" "04214" "00369111" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264450" "04214" "00369112" "01695" "Familial, autosomal recessive" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264451" "04214" "00369113" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264452" "04214" "00369114" "01695" "Familial, autosomal recessive" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264453" "04214" "00369115" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264454" "04214" "00369116" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264455" "04214" "00369117" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264456" "04214" "00369118" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264457" "04214" "00369119" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264458" "04214" "00369120" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264459" "04214" "00369121" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264460" "04214" "00369122" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264461" "04214" "00369123" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264462" "04214" "00369124" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "macular dystrophy" ""
"0000264463" "04214" "00369125" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinal dystrophy" ""
"0000264464" "04214" "00369126" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000264465" "04214" "00369127" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "macular dystrophy" ""
"0000264466" "04214" "00369128" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264467" "04214" "00369129" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264468" "04214" "00369130" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264469" "04214" "00369131" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000264470" "04214" "00369132" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000264471" "04214" "00369133" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000264472" "04214" "00369134" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000264473" "04214" "00369135" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264474" "04214" "00369136" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264475" "04214" "00369137" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264476" "04214" "00369138" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264477" "04214" "00369139" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264478" "04214" "00369140" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000264479" "04214" "00369141" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000264480" "04214" "00369142" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000264481" "04214" "00369143" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000264482" "04214" "00369144" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000264483" "04214" "00369145" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000264484" "04214" "00369146" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264485" "04214" "00369147" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264486" "04214" "00369148" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264487" "04214" "00369149" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264488" "04214" "00369150" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264489" "04214" "00369151" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264490" "04214" "00369152" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "Stargardt disease, cone-rod dystrophy" ""
"0000264491" "04214" "00369153" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264492" "04214" "00369154" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "Stargardt disease, cone-rod dystrophy" ""
"0000264493" "04214" "00369155" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264494" "04214" "00369156" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264495" "04214" "00369157" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "Stargardt disease, cone-rod dystrophy" ""
"0000264496" "04214" "00369158" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "Stargardt disease, cone-rod dystrophy" ""
"0000264497" "04214" "00369159" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264498" "04214" "00369160" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264499" "04214" "00369161" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "Stargardt disease, cone-rod dystrophy" ""
"0000264500" "04214" "00369162" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264501" "04214" "00369163" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "Stargardt disease, cone-rod dystrophy" ""
"0000264502" "04214" "00369164" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "Stargardt disease, cone-rod dystrophy" ""
"0000264503" "04214" "00369165" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "Stargardt disease, cone-rod dystrophy" ""
"0000264504" "04214" "00369166" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "Stargardt disease, cone-rod dystrophy" ""
"0000264505" "04214" "00369167" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264506" "04214" "00369168" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264507" "04214" "00369169" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264508" "04214" "00369170" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "Stargardt disease, cone-rod dystrophy" ""
"0000264509" "04214" "00369171" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264510" "04214" "00369172" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264511" "04214" "00369173" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264512" "04214" "00369174" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "Stargardt disease, cone-rod dystrophy" ""
"0000264513" "04214" "00369175" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264514" "04214" "00369176" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264515" "04214" "00369177" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "Stargardt disease, cone-rod dystrophy" ""
"0000264516" "04214" "00369178" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "Stargardt disease, cone-rod dystrophy" ""
"0000264517" "04214" "00369179" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264518" "04214" "00369180" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264519" "04214" "00369181" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264520" "04214" "00369182" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264521" "04214" "00369183" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264522" "04214" "00369184" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "Stargardt disease, cone-rod dystrophy" ""
"0000264523" "04214" "00369185" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264524" "04214" "00369186" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264525" "04214" "00369187" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264526" "04214" "00369188" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264527" "04214" "00369189" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264528" "04214" "00369190" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264529" "04214" "00369191" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264530" "04214" "00369192" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264531" "04214" "00369193" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264532" "04214" "00369194" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "Stargardt disease, cone-rod dystrophy" ""
"0000264533" "04214" "00369195" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264534" "04214" "00369196" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264535" "04214" "00369197" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264536" "04214" "00369198" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "Stargardt disease, cone-rod dystrophy" ""
"0000264537" "04214" "00369199" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264538" "04214" "00369200" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264539" "04214" "00369201" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264540" "04214" "00369202" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264541" "04214" "00369203" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264542" "04214" "00369204" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264543" "04214" "00369205" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000264544" "04214" "00369206" "01695" "Familial, autosomal recessive" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000264545" "04214" "00369207" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "CORD" ""
"0000264546" "04214" "00369208" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "CORD" ""
"0000264547" "04214" "00369209" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa?" ""
"0000264548" "04214" "00369210" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264549" "04214" "00369211" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa?" ""
"0000264550" "04214" "00369212" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000264551" "04214" "00369213" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264552" "04214" "00369214" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000264553" "04214" "00369215" "01695" "Unknown" "" "Pale disc, Arteriolar Attenuation, Bone Spicule Retinal Pigment" "17y" "" "decrease Visual Acuity" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264554" "04214" "00369216" "01695" "Unknown" "" "No Central Scotoma" "38y" "" "decrease Visual Acuity" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264555" "04214" "00369217" "01695" "Unknown" "" "Visual acuity was (RE/LE): 1 logMAR/1.1 logMAR" "11y" "" "identification of \'problem\'" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264556" "04214" "00369218" "01695" "Unknown" "" "Visual acuity was (RE/LE): 0.8 logMAR/0.84 logMAR" "<10y" "" "identification of \'problem\'" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264557" "04214" "00369219" "01695" "Unknown" "" "Visual acuity was 0.7 logMAR in both eyes" "11y" "" "identification of \'problem\'" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264558" "04214" "00369220" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000264559" "04214" "00369221" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "macular dystrophy" ""
"0000264560" "04214" "00369222" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264561" "04214" "00369223" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264562" "04214" "00369224" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264563" "04214" "00369225" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264564" "04214" "00369226" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264565" "04214" "00369227" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinal dystrophy (generalized, non-syndromic)" ""
"0000264566" "04214" "00369228" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264567" "04214" "00369229" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264568" "04214" "00369230" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "macular dystrophy" ""
"0000264569" "04214" "00369231" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264570" "04214" "00369232" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264571" "04214" "00369233" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264572" "04214" "00369234" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264573" "04214" "00369235" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264574" "04214" "00369236" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264575" "04214" "00369237" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000264576" "04214" "00369238" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264577" "04214" "00369239" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264578" "04214" "00369240" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000264579" "04214" "00369241" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264580" "04214" "00369242" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264581" "04214" "00369243" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000264582" "04214" "00369244" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264583" "04214" "00369245" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264584" "04214" "00369246" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264585" "04214" "00369247" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000264586" "04214" "00369248" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264587" "04214" "00369249" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264588" "04214" "00369250" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "macular dystrophy" ""
"0000264589" "04214" "00369251" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "macular dystrophy" ""
"0000264590" "04214" "00369252" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264591" "04214" "00369253" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264592" "04214" "00369254" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264593" "04214" "00369255" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000264594" "04214" "00369256" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "macular dystrophy" ""
"0000264595" "04214" "00369257" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinal dystrophy (generalized, non-syndromic)" ""
"0000264596" "04214" "00369258" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264597" "04214" "00369259" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "macular dystrophy" ""
"0000264598" "04214" "00369260" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000264599" "04214" "00369261" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264600" "04214" "00369262" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264601" "04214" "00369263" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264602" "04214" "00369264" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264603" "04214" "00369265" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264604" "04214" "00369266" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "cone dystrophy" ""
"0000264605" "04214" "00369267" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264606" "04214" "00369268" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000264607" "04214" "00369269" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000264608" "04214" "00369270" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000264609" "04214" "00369271" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000264610" "04214" "00369272" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264611" "04214" "00369273" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264612" "04214" "00369274" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264613" "04214" "00369275" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264614" "04214" "00369276" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264615" "04214" "00369277" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264616" "04214" "00369278" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinal dystrophy (generalized, non-syndromic)" ""
"0000264617" "04214" "00369279" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264618" "04214" "00369280" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "macular dystrophy" ""
"0000264619" "04214" "00369281" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "Bietti crystalline retinopathy" ""
"0000264620" "04214" "00369282" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264621" "04214" "00369283" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000264622" "04214" "00369284" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinal dystrophy (generalized, non-syndromic)" ""
"0000264623" "04214" "00369285" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000264624" "04214" "00369286" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264625" "04214" "00369287" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264626" "04214" "00369288" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264627" "04214" "00369289" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "cone dystrophy" ""
"0000264628" "04214" "00369290" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264629" "04214" "00369291" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264630" "04214" "00369292" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000264631" "04214" "00369293" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "macular dystrophy" ""
"0000264632" "04214" "00369294" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264633" "04214" "00369295" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000264634" "04214" "00369296" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264635" "04214" "00369297" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "macular dystrophy" ""
"0000264636" "04214" "00369298" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "CORD" ""
"0000264637" "04214" "00369299" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "macular dystrophy" ""
"0000264638" "04214" "00369300" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264639" "04214" "00369301" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000264640" "04214" "00369302" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "macular dystrophy" ""
"0000264641" "04214" "00369303" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "low vision" ""
"0000264642" "04214" "00369304" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "BEST disease?" ""
"0000264643" "04214" "00369305" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264644" "04214" "00369306" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264645" "04214" "00369307" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264646" "04214" "00369308" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264647" "04214" "00369309" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264648" "04214" "00369310" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000264649" "04214" "00369311" "01695" "Unknown" "" "At the age of 21y the BCVA was 0.04/0.04, there was nystagmus and the ERG showed: NA" "4y" "" "unknown" "" "" "" "" "" "" "retinal dystrophy" ""
"0000264650" "04214" "00369312" "01695" "Unknown" "" "At the age of 5y the BCVA was 0.08/0.1, there was nystagmus and the ERG showed: extinguished" "5y" "" "unknown" "" "" "" "" "" "" "retinal dystrophy" ""
"0000264651" "04214" "00369313" "01695" "Unknown" "" "Patient 10–1 was seen at the age of 34 years. Medical history was positive for pacemaker insertion at the age of 25 years due to bradycardia. In addition, he had mild ID. He was referred to the ophthalmic clinic due to reduced vision. BCVA was CF OD, and 20/200 OS. FF-ERG demonstrated significantly reduced cone response and slightly reduced rod response, suggesting a CRD." "<34y" "" "reduced vision" "" "" "" "" "" "" "cone-rod dystrophy, intellectual disability" ""
"0000264652" "04214" "00369314" "01695" "Unknown" "" "(patient 8–2) is intellectually disabled. He was referred to the eye clinic for vision evaluation at the age of 11 years, because his teachers suspected he had impaired vision. On exam, BCVA was 20/80 OD, 20/160 OS, with exotropia in the left eye. The fundus exam showed pallor of the optic disc, arterial narrowing, abnormal macular appearance with RPE changes, and no bone spicules. FF-ERG demonstrated a significant decrease in rod and cone responses, thus confirming a diagnosis of RP." "<11y" "" "impaired vision" "" "" "" "" "" "" "retinitis pigmentosa, intellectual disability" ""
"0000264653" "04214" "00369315" "01695" "Unknown" "" "" "<30y" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000264654" "04214" "00369316" "01695" "Unknown" "" "The BCVA (logMAR) RE/LE, was 23y: 1,0/1,0 48y: CF/CF 51y: SP/SP, the VF RE/LE (RE/LE VFI %) was 48y: central scotoma (19/35).. The Fundus examination was 22y: macular RPE atrophy, perifoveal pigments, drusen; 48y: mild pale OpD, all posterior pole atrophied.. The FAF was NA. The OCT was NA and the Vision electrophysiology was NA. Additional findings were: Myopia, 48y: incipient facoesclerosis." "19y" "" "Late teenage: photo, decr VA; 30s: dyschro." "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264655" "04214" "00369317" "01695" "Unknown" "" "The BCVA (logMAR) RE/LE, was 29y: 0,8/1,0 58y: CF/CF, the VF RE/LE (RE/LE VFI %) was 58y: central scotoma (47/50).. The Fundus examination was 58y: macular RPE atrophy, NV, atrophy OpD.. The FAF was NA. The OCT was 58y: severe central NE thinning. and the Vision electrophysiology was NA. Additional findings were: Myopia" "27y" "" "30s: decr VA, photo; 50s: dyschro." "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264656" "04214" "00369318" "01695" "Unknown" "" "The BCVA (logMAR) RE/LE, was 20y: 0,4/0,4 22y: 0,5/0,5 25y: 0,5/0,7, the VF RE/LE (RE/LE VFI %) was 20y: light central scotoma (93/93).. The Fundus examination was 25y: yellow flecks around the macula.. The FAF was 25y: hyper AF macular ring.. The OCT was NA and the Vision electrophysiology was 20y: decr amp VEP; 25y: decr rod ffERG, central dysf mfERG, N EOG.. Additional findings were: 20y: Dark choroid on FA." "20y" "" "Childhood: decr VA." "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264657" "04214" "00369319" "01695" "Unknown" "" "The BCVA (logMAR) RE/LE, was 12y: 0,5/0,7 15y: 0,5/0,8, the VF RE/LE (RE/LE VFI %) was NA. The Fundus examination was 11y: RPE atrophy.. The FAF was NA. The OCT was 11y: central NE thinning, LE central ERP atrophy. and the Vision electrophysiology was 11y: abN lat and amp VEP, decr rod ffERG, abN EOG. . Additional findings were: Hyperopia" "12y" "" "Childhood: decr VA, photo." "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264658" "04214" "00369320" "01695" "Unknown" "" "The BCVA (logMAR) RE/LE, was 28y: 0,0/0,0 35y: 0,4/0,1 43y: 1,0/1,0, the VF RE/LE (RE/LE VFI %) was 36y: central scotoma (56/ 63). The Fundus examination was 27y: yellow-white deposits around the macula.. The FAF was NA. The OCT was 38y: central and periph NE thinning; 43y: wsc. and the Vision electrophysiology was 27y: N VEP, N ffERG, abN EOG; 36y: delayed lat RE VEP, decr cone and rod ffERG.. Additional findings were: Ankilosing spondylitis." "27y" "" "30s: decr VA, photo." "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264659" "04214" "00369321" "01695" "Unknown" "" "The BCVA (logMAR) RE/LE, was 42y: 0,4/0,2 46y: 1,0/0,7 50y: 0,8/1,0, the VF RE/LE (RE/LE VFI %) was NA. The Fundus examination was 42y: macular RPE atrophy; 46y: wsc.. The FAF was NA. The OCT was 46y: central and periph NE thinning; 50y: central EPR atrophy. and the Vision electrophysiology was NA. Additional findings were: Myopia, astigmatism." "39y" "" "20s: decr VA." "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264660" "04214" "00369322" "01695" "Unknown" "" "The BCVA (logMAR) RE/LE, was 25y: 0,8/0,4, the VF RE/LE (RE/LE VFI %) was 25y: central scotoma (93/93).. The Fundus examination was 25y: yellow flecks around the macula.. The FAF was 25y: hyper AF macular ring.. The OCT was NA and the Vision electrophysiology was 24y: abN lat and amp VEP, decr cone ffERG.. Additional findings were: 25y: dark choroid on FA." "24y" "" "20s: deacr VA, photo." "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264661" "04214" "00369323" "01695" "Unknown" "" "The BCVA (logMAR) RE/LE, was 14y: 1,0/1,0, the VF RE/LE (RE/LE VFI %) was NA. The Fundus examination was 13y: macular RPE atrophy, flecks in the mild-periph.. The FAF was NA. The OCT was NA and the Vision electrophysiology was 13y: severe decr cone and rod ffERG, central dysf mfERG.. Additional findings were: 13y: dark choroid on FA." "13y" "" "Teenage: decr VA." "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264662" "04214" "00369324" "01695" "Unknown" "" "The BCVA (logMAR) RE/LE, was 16y: 0,2/0,2 21y: 1,0/1,0, the VF RE/LE (RE/LE VFI %) was 21y: central scotoma.. The Fundus examination was 16y: bull\'s eye maculopathy, yellow deposits around the macula.. The FAF was 21y: foveal atrophy.. The OCT was 21y: central NE thinning. and the Vision electrophysiology was 16y: abN lat and amp VEP, central dysf mfERG, N EOG.. Additional findings were: Myopia. 16s: dark choroid on FA." "16y" "" "Teenage: decr VA, photo." "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264663" "04214" "00369325" "01695" "Unknown" "" "The BCVA (logMAR) RE/LE, was 45y: 0,7/0,7, the VF RE/LE (RE/LE VFI %) was NA. The Fundus examination was 30y: white foveal lesion; 45y: macular RPE atrophy, yellow flecks around the macula.. The FAF was NA. The OCT was NA and the Vision electrophysiology was NA. Additional findings were: 30y: dark choroid on FA." "30y" "" "Teenage: decr VA, photo." "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264664" "04214" "00369326" "01695" "Unknown" "" "The BCVA (logMAR) RE/LE, was 10y: 0,5/0,8 11y: 0,8/0,8 12y: 0,8/0,8, the VF RE/LE (RE/LE VFI %) was 10y: central scotoma (91/84).. The Fundus examination was NA. The FAF was NA. The OCT was 10y: central NE thinning. and the Vision electrophysiology was 12y: N VEP, decr cone and rod ffERG.. Additional findings were: -" "10y" "" "Childhood: decr VA, photo." "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264665" "04214" "00369327" "01695" "Unknown" "" "The BCVA (logMAR) RE/LE, was 48y: 1,0/1,0 50y: 1,0/1,0 60y: 1,3/1,3, the VF RE/LE (RE/LE VFI %) was NA. The Fundus examination was 50y: macular RPE atrophy, yellow flecks around the macula.. The FAF was NA. The OCT was 50y: central and periph NE thinning. and the Vision electrophysiology was NA. Additional findings were: Myopia, 60y: BE SCP catar." "40y" "" "Childhood: photo, NB, decr VA." "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264666" "04214" "00369328" "01695" "Unknown" "" "The BCVA (logMAR) RE/LE, was 48y: 0,0/0,1 52y: 0,0/0,3 57y: 0,5/0,3, the VF RE/LE (RE/LE VFI %) was NA. The Fundus examination was 48y: macular RPE atrophy, yellow flecks around the macula.. The FAF was 50y: macular RPE atrophy, fovea pres.. The OCT was 52y: macular RPE atrophy, centrally pres NE. and the Vision electrophysiology was 52y: abN lat and amp VEP, decr cone ffERG, central and periph dysf, N EOG.. Additional findings were: -" "48y" "" "Late 40s: photo, metamorphopsia." "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264667" "04214" "00369329" "01695" "Unknown" "" "The BCVA (logMAR) RE/LE, was 26y: 1,0/1,0 27y: 0,8/0,8, the VF RE/LE (RE/LE VFI %) was NA. The Fundus examination was 26y: N; 27y: macular RPE atrophy.. The FAF was 30y: macular atrophy with hyper AF spotted lesions.. The OCT was 27y: severe central atrophy. and the Vision electrophysiology was 27y: decr cone LE ffERG, periph RE and central LE dysf mfERG.. Additional findings were: -" "27y" "" "20s: photo, decr VA." "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264668" "04214" "00369330" "01695" "Unknown" "" "The BCVA (logMAR) RE/LE, was 15y: 0,5/0,5, the VF RE/LE (RE/LE VFI %) was NA. The Fundus examination was 15y: bull\'s eye maculopathy.. The FAF was NA. The OCT was NA and the Vision electrophysiology was 16y: central dysf mfERG.. Additional findings were: -" "15y" "" "Teenage: decr VA." "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264669" "04214" "00369331" "01695" "Unknown" "" "The BCVA (logMAR) RE/LE, was 9y: 0,4/0,4, the VF RE/LE (RE/LE VFI %) was NA. The Fundus examination was 9y: light macular lesion.. The FAF was NA. The OCT was 9y: centrally pres NE. and the Vision electrophysiology was NA. Additional findings were: Hyperopia" "9y" "" "Childhood: decr VA, photo." "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264670" "04214" "00369332" "01695" "Unknown" "" "The BCVA (logMAR) RE/LE, was 53y: 1,0/1,0, the VF RE/LE (RE/LE VFI %) was 53y: central scotoma.. The Fundus examination was 53y: macular RPE atrophy.. The FAF was NA. The OCT was 53y: atrophy and thinning of the macula. and the Vision electrophysiology was NA. Additional findings were: -" "45y" "" "40s: photo, decr VF, decr VA." "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264671" "04214" "00369333" "01695" "Familial, autosomal recessive" "" "" "<35y" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000264672" "04214" "00369334" "01695" "Familial, autosomal recessive" "" "" "<59y" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000264673" "04214" "00369335" "01695" "Familial, autosomal recessive" "" "" "<63y" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000264674" "04214" "00369336" "01695" "Unknown" "" "" "<65y" "" "unknown" "" "" "" "" "" "" "CACD" ""
"0000264675" "04214" "00369337" "01695" "Unknown" "" "" "<21y" "" "unknown" "" "" "" "" "" "" "cone dystrophy" ""
"0000264676" "04214" "00369338" "01695" "Unknown" "" "" "<13y" "" "unknown" "" "" "" "" "" "" "cone dystrophy" ""
"0000264677" "04214" "00369339" "01695" "Unknown" "" "" "<34y" "" "unknown" "" "" "" "" "" "" "cone dystrophy" ""
"0000264678" "04214" "00369340" "01695" "Unknown" "" "" "<32y" "" "unknown" "" "" "" "" "" "" "cone dystrophy" ""
"0000264679" "04214" "00369341" "01695" "Unknown" "" "" "<54y" "" "unknown" "" "" "" "" "" "" "cone dystrophy" ""
"0000264680" "04214" "00369342" "01695" "Unknown" "" "" "<36y" "" "unknown" "" "" "" "" "" "" "cone dystrophy" ""
"0000264681" "04214" "00369343" "01695" "Unknown" "" "" "<61y" "" "unknown" "" "" "" "" "" "" "cone dystrophy" ""
"0000264682" "04214" "00369344" "01695" "Unknown" "" "" "<72y" "" "unknown" "" "" "" "" "" "" "cone dystrophy" ""
"0000264683" "04214" "00369345" "01695" "Unknown" "" "" "<26y" "" "unknown" "" "" "" "" "" "" "cone dystrophy" ""
"0000264684" "04214" "00369346" "01695" "Unknown" "" "" "<38y" "" "unknown" "" "" "" "" "" "" "cone dystrophy" ""
"0000264685" "04214" "00369347" "01695" "Unknown" "" "" "<20y" "" "unknown" "" "" "" "" "" "" "cone dystrophy" ""
"0000264686" "04214" "00369348" "01695" "Unknown" "" "" "<11y" "" "unknown" "" "" "" "" "" "" "cone dystrophy" ""
"0000264687" "04214" "00369349" "01695" "Unknown" "" "" "<25y" "" "unknown" "" "" "" "" "" "" "cone dystrophy" ""
"0000264688" "04214" "00369350" "01695" "Unknown" "" "" "<25y" "" "unknown" "" "" "" "" "" "" "cone dystrophy" ""
"0000264689" "04214" "00369351" "01695" "Unknown" "" "" "<16y" "" "unknown" "" "" "" "" "" "" "cone dystrophy" ""
"0000264690" "04214" "00369352" "01695" "Unknown" "" "" "<21y" "" "unknown" "" "" "" "" "" "" "cone dystrophy" ""
"0000264691" "04214" "00369353" "01695" "Unknown" "" "" "<11y" "" "unknown" "" "" "" "" "" "" "cone dystrophy" ""
"0000264692" "04214" "00369354" "01695" "Unknown" "" "" "<32y" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000264693" "04214" "00369355" "01695" "Unknown" "" "" "<51y" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000264694" "04214" "00369356" "01695" "Unknown" "" "" "<30y" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000264695" "04214" "00369357" "01695" "Unknown" "" "" "<39y" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000264696" "04214" "00369358" "01695" "Unknown" "" "" "<45y" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000264697" "04214" "00369359" "01695" "Unknown" "" "" "<47y" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000264698" "04214" "00369360" "01695" "Unknown" "" "" "<1y" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000264699" "04214" "00369361" "01695" "Unknown" "" "" "<69y" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000264700" "04214" "00369362" "01695" "Unknown" "" "" "<45y" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000264701" "04214" "00369363" "01695" "Unknown" "" "" "<64y" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000264702" "04214" "00369364" "01695" "Unknown" "" "" "<49y" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000264703" "04214" "00369365" "01695" "Unknown" "" "" "<26y" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000264704" "04214" "00369366" "01695" "Unknown" "" "" "<43y" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000264705" "04214" "00369367" "01695" "Unknown" "" "" "<77y" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000264706" "04214" "00369368" "01695" "Unknown" "" "" "<60y" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000264707" "04214" "00369369" "01695" "Unknown" "" "" "<68y" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000264708" "04214" "00369370" "01695" "Unknown" "" "" "<11y" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000264709" "04214" "00369371" "01695" "Unknown" "" "" "<19y" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000264710" "04214" "00369372" "01695" "Unknown" "" "" "<42y" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000264711" "04214" "00369373" "01695" "Unknown" "" "" "<50y" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000264712" "04214" "00369374" "01695" "Unknown" "" "" "<53y" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000264713" "04214" "00369375" "01695" "Unknown" "" "" "<71y" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000264714" "04214" "00369376" "01695" "Unknown" "" "" "<28y" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000264715" "04214" "00369377" "01695" "Unknown" "" "" "<17y" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000264716" "04214" "00369378" "01695" "Unknown" "" "" "<9y" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000264717" "04214" "00369379" "01695" "Unknown" "" "" "<23y" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000264718" "04214" "00369380" "01695" "Unknown" "" "" "<24y" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000264719" "04214" "00369381" "01695" "Unknown" "" "" "<38y" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000264720" "04214" "00369382" "01695" "Unknown" "" "" "<19y" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000264721" "04214" "00369383" "01695" "Unknown" "" "" "<6y" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000264722" "04214" "00369384" "01695" "Unknown" "" "" "<9y" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000264723" "04214" "00369385" "01695" "Unknown" "" "" "<60y" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000264724" "04214" "00369386" "01695" "Unknown" "" "" "<23y" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000264725" "04214" "00369387" "01695" "Unknown" "" "" "<34y" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000264726" "04214" "00369388" "01695" "Unknown" "" "" "<55y" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000264727" "04214" "00369389" "01695" "Unknown" "" "" "<13y" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000264728" "04214" "00369390" "01695" "Unknown" "" "" "<47y" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000264729" "04214" "00369391" "01695" "Unknown" "" "" "<33y" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000264730" "04214" "00369392" "01695" "Unknown" "" "" "<38y" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000264731" "04214" "00369393" "01695" "Unknown" "" "" "<43y" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000264732" "04214" "00369394" "01695" "Unknown" "" "" "<34y" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000264733" "04214" "00369395" "01695" "Unknown" "" "" "<46y" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000264734" "04214" "00369396" "01695" "Unknown" "" "" "<21y" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000264735" "04214" "00369397" "01695" "Unknown" "" "" "<6y" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000264736" "04214" "00369398" "01695" "Unknown" "" "" "<58y" "" "unknown" "" "" "" "" "" "" "MDS" ""
"0000264737" "04214" "00369399" "01695" "Unknown" "" "" "<17y" "" "unknown" "" "" "" "" "" "" "MDS" ""
"0000264738" "04214" "00369400" "01695" "Unknown" "" "" "<72y" "" "unknown" "" "" "" "" "" "" "MDS" ""
"0000264739" "04214" "00369401" "01695" "Unknown" "" "" "<29y" "" "unknown" "" "" "" "" "" "" "MDS" ""
"0000264740" "04214" "00369402" "01695" "Unknown" "" "" "<51y" "" "unknown" "" "" "" "" "" "" "MDS" ""
"0000264741" "04214" "00369403" "01695" "Unknown" "" "" "<26y" "" "unknown" "" "" "" "" "" "" "MDS" ""
"0000264742" "04214" "00369404" "01695" "Unknown" "" "" "<20y" "" "unknown" "" "" "" "" "" "" "MDS" ""
"0000264743" "04214" "00369405" "01695" "Unknown" "" "" "<47y" "" "unknown" "" "" "" "" "" "" "MDS" ""
"0000264744" "04214" "00369406" "01695" "Unknown" "" "" "<22y" "" "unknown" "" "" "" "" "" "" "MDS" ""
"0000264745" "04214" "00369407" "01695" "Unknown" "" "" "<68y" "" "unknown" "" "" "" "" "" "" "MDS" ""
"0000264746" "04214" "00369408" "01695" "Unknown" "" "" "<47y" "" "unknown" "" "" "" "" "" "" "MDS" ""
"0000264747" "04214" "00369409" "01695" "Unknown" "" "" "<52y" "" "unknown" "" "" "" "" "" "" "MDS" ""
"0000264748" "04214" "00369410" "01695" "Unknown" "" "" "<38y" "" "unknown" "" "" "" "" "" "" "MDS" ""
"0000264749" "04214" "00369411" "01695" "Unknown" "" "" "<44y" "" "unknown" "" "" "" "" "" "" "MDS" ""
"0000264750" "04214" "00369412" "01695" "Unknown" "" "" "<33y" "" "unknown" "" "" "" "" "" "" "MDS" ""
"0000264751" "04214" "00369413" "01695" "Unknown" "" "" "<31y" "" "unknown" "" "" "" "" "" "" "MDS" ""
"0000264752" "04214" "00369414" "01695" "Unknown" "" "" "<29y" "" "unknown" "" "" "" "" "" "" "MDS" ""
"0000264753" "04214" "00369415" "01695" "Unknown" "" "" "<43y" "" "unknown" "" "" "" "" "" "" "MDS" ""
"0000264754" "04214" "00369416" "01695" "Unknown" "" "" "<33y" "" "unknown" "" "" "" "" "" "" "MDS" ""
"0000264755" "04214" "00369417" "01695" "Unknown" "" "" "<14y" "" "unknown" "" "" "" "" "" "" "MDS" ""
"0000264756" "04214" "00369418" "01695" "Unknown" "" "" "<41y" "" "unknown" "" "" "" "" "" "" "MDS" ""
"0000264757" "04214" "00369419" "01695" "Unknown" "" "" "<33y" "" "unknown" "" "" "" "" "" "" "MDS" ""
"0000264758" "04214" "00369420" "01695" "Unknown" "" "" "<52y" "" "unknown" "" "" "" "" "" "" "MDS" ""
"0000264759" "04214" "00369421" "01695" "Unknown" "" "" "<15y" "" "unknown" "" "" "" "" "" "" "MDS" ""
"0000264760" "04214" "00369422" "01695" "Unknown" "" "" "<22y" "" "unknown" "" "" "" "" "" "" "MDS" ""
"0000264761" "04214" "00369423" "01695" "Unknown" "" "" "<6y" "" "unknown" "" "" "" "" "" "" "MDS" ""
"0000264762" "04214" "00369424" "01695" "Unknown" "" "" "<63y" "" "unknown" "" "" "" "" "" "" "MDS" ""
"0000264763" "04214" "00369425" "01695" "Unknown" "" "" "<38y" "" "unknown" "" "" "" "" "" "" "MDS" ""
"0000264764" "04214" "00369426" "01695" "Unknown" "" "" "<23y" "" "unknown" "" "" "" "" "" "" "MDS" ""
"0000264765" "04214" "00369427" "01695" "Unknown" "" "" "<59y" "" "unknown" "" "" "" "" "" "" "MDS" ""
"0000264766" "04214" "00369428" "01695" "Unknown" "" "" "<21y" "" "unknown" "" "" "" "" "" "" "MDS" ""
"0000264767" "04214" "00369429" "01695" "Unknown" "" "" "<27y" "" "unknown" "" "" "" "" "" "" "MDS" ""
"0000264768" "04214" "00369430" "01695" "Unknown" "" "" "<56y" "" "unknown" "" "" "" "" "" "" "MDS" ""
"0000264769" "04214" "00369431" "01695" "Unknown" "" "" "<53y" "" "unknown" "" "" "" "" "" "" "MDS" ""
"0000264770" "04214" "00369432" "01695" "Unknown" "" "" "<28y" "" "unknown" "" "" "" "" "" "" "SRP" ""
"0000264771" "04214" "00369433" "01695" "Unknown" "" "" "<49y" "" "unknown" "" "" "" "" "" "" "SRP" ""
"0000264772" "04214" "00369434" "01695" "Unknown" "" "" "<33y" "" "unknown" "" "" "" "" "" "" "SRP" ""
"0000264773" "04214" "00369435" "01695" "Unknown" "" "" "<38y" "" "unknown" "" "" "" "" "" "" "SRP" ""
"0000264774" "04214" "00369436" "01695" "Unknown" "" "" "<61y" "" "unknown" "" "" "" "" "" "" "SRP" ""
"0000264775" "04214" "00369437" "01695" "Unknown" "" "" "<64y" "" "unknown" "" "" "" "" "" "" "SRP" ""
"0000264776" "04214" "00369438" "01695" "Unknown" "" "" "<31y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264777" "04214" "00369439" "01695" "Unknown" "" "" "<15y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264778" "04214" "00369440" "01695" "Unknown" "" "" "<34y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264779" "04214" "00369441" "01695" "Unknown" "" "" "<21y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264780" "04214" "00369442" "01695" "Unknown" "" "" "<21y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264781" "04214" "00369443" "01695" "Unknown" "" "" "<18y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264782" "04214" "00369444" "01695" "Unknown" "" "" "<47y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264783" "04214" "00369445" "01695" "Unknown" "" "" "<37y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264784" "04214" "00369446" "01695" "Unknown" "" "" "<54y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264785" "04214" "00369447" "01695" "Unknown" "" "" "<50y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264786" "04214" "00369448" "01695" "Unknown" "" "" "<18y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264787" "04214" "00369449" "01695" "Unknown" "" "" "<43y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264788" "04214" "00369450" "01695" "Unknown" "" "" "<36y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264789" "04214" "00369451" "01695" "Unknown" "" "" "<52y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264790" "04214" "00369452" "01695" "Unknown" "" "" "<31y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264791" "04214" "00369453" "01695" "Unknown" "" "" "<28y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264792" "04214" "00369454" "01695" "Unknown" "" "" "<25y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264793" "04214" "00369455" "01695" "Unknown" "" "" "<24y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264794" "04214" "00369456" "01695" "Unknown" "" "" "<23y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264795" "04214" "00369457" "01695" "Unknown" "" "" "<44y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264796" "04214" "00369458" "01695" "Unknown" "" "" "<18y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264797" "04214" "00369459" "01695" "Unknown" "" "" "<20y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264798" "04214" "00369460" "01695" "Unknown" "" "" "<43y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264799" "04214" "00369461" "01695" "Unknown" "" "" "<63y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264800" "04214" "00369462" "01695" "Unknown" "" "" "<24y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264801" "04214" "00369463" "01695" "Unknown" "" "" "<17y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264802" "04214" "00369464" "01695" "Unknown" "" "" "<19y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264803" "04214" "00369465" "01695" "Unknown" "" "" "<18y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264804" "04214" "00369466" "01695" "Unknown" "" "" "<35y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264805" "04214" "00369467" "01695" "Unknown" "" "" "<29y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264806" "04214" "00369468" "01695" "Unknown" "" "" "<26y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264807" "04214" "00369469" "01695" "Unknown" "" "" "<44y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264808" "04214" "00369470" "01695" "Unknown" "" "" "<44y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264809" "04214" "00369471" "01695" "Unknown" "" "" "<47y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264810" "04214" "00369472" "01695" "Unknown" "" "" "<43y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264811" "04214" "00369473" "01695" "Unknown" "" "" "<28y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264812" "04214" "00369474" "01695" "Unknown" "" "" "<32y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264813" "04214" "00369475" "01695" "Unknown" "" "" "<22y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264814" "04214" "00369476" "01695" "Unknown" "" "" "<18y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264815" "04214" "00369477" "01695" "Unknown" "" "" "<43y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264816" "04214" "00369478" "01695" "Unknown" "" "" "<38y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264817" "04214" "00369479" "01695" "Unknown" "" "" "<32y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264818" "04214" "00369480" "01695" "Unknown" "" "" "<26y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264819" "04214" "00369481" "01695" "Unknown" "" "" "<15y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264820" "04214" "00369482" "01695" "Unknown" "" "" "<26y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264821" "04214" "00369483" "01695" "Unknown" "" "" "<34y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264822" "04214" "00369484" "01695" "Unknown" "" "" "<19y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264823" "04214" "00369485" "01695" "Unknown" "" "" "<27y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264824" "04214" "00369486" "01695" "Unknown" "" "" "<16y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264825" "04214" "00369487" "01695" "Unknown" "" "" "<14y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264826" "04214" "00369488" "01695" "Unknown" "" "" "<26y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264827" "04214" "00369489" "01695" "Unknown" "" "" "<30y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264828" "04214" "00369490" "01695" "Unknown" "" "" "<32y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264829" "04214" "00369491" "01695" "Unknown" "" "" "<15y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264830" "04214" "00369492" "01695" "Unknown" "" "" "<21y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264831" "04214" "00369493" "01695" "Unknown" "" "" "<56y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264832" "04214" "00369494" "01695" "Unknown" "" "" "<44y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264833" "04214" "00369495" "01695" "Unknown" "" "" "<50y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264834" "04214" "00369496" "01695" "Unknown" "" "" "<13y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264835" "04214" "00369497" "01695" "Unknown" "" "" "<51y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264836" "04214" "00369498" "01695" "Unknown" "" "" "<36y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264837" "04214" "00369499" "01695" "Unknown" "" "" "<55y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264838" "04214" "00369500" "01695" "Unknown" "" "" "<50y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264839" "04214" "00369501" "01695" "Unknown" "" "" "<18y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264840" "04214" "00369502" "01695" "Unknown" "" "" "<43y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264841" "04214" "00369503" "01695" "Unknown" "" "" "<11y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264842" "04214" "00369504" "01695" "Unknown" "" "" "<11y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264843" "04214" "00369505" "01695" "Unknown" "" "" "<43y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264844" "04214" "00369506" "01695" "Unknown" "" "" "<23y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264845" "04214" "00369507" "01695" "Unknown" "" "" "<31y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264846" "04214" "00369508" "01695" "Unknown" "" "" "<19y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264847" "04214" "00369509" "01695" "Unknown" "" "" "<21y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264848" "04214" "00369510" "01695" "Unknown" "" "" "<67y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264849" "04214" "00369511" "01695" "Unknown" "" "" "<37y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264850" "04214" "00369512" "01695" "Unknown" "" "" "<15y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264851" "04214" "00369513" "01695" "Unknown" "" "" "<23y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264852" "04214" "00369514" "01695" "Unknown" "" "" "<24y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264853" "04214" "00369515" "01695" "Unknown" "" "" "<28y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264854" "04214" "00369516" "01695" "Unknown" "" "" "<31y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264855" "04214" "00369517" "01695" "Unknown" "" "" "<31y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264856" "04214" "00369518" "01695" "Unknown" "" "" "<29y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264857" "04214" "00369519" "01695" "Unknown" "" "" "<61y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264858" "04214" "00369520" "01695" "Unknown" "" "" "<37y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264859" "04214" "00369521" "01695" "Unknown" "" "" "<9y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264860" "04214" "00369522" "01695" "Unknown" "" "" "<22y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264861" "04214" "00369523" "01695" "Unknown" "" "" "<14y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264862" "04214" "00369524" "01695" "Unknown" "" "" "<46y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264863" "04214" "00369525" "01695" "Unknown" "" "" "<35y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264864" "04214" "00369526" "01695" "Unknown" "" "" "<20y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264865" "04214" "00369527" "01695" "Unknown" "" "" "<24y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264866" "04214" "00369528" "01695" "Unknown" "" "" "<10y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264867" "04214" "00369529" "01695" "Unknown" "" "" "<64y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264868" "04214" "00369530" "01695" "Unknown" "" "" "<58y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264869" "04214" "00369531" "01695" "Unknown" "" "" "<49y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264870" "04214" "00369532" "01695" "Unknown" "" "" "<50y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264871" "04214" "00369533" "01695" "Unknown" "" "" "<50y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000264872" "04214" "00369534" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000264873" "04214" "00369535" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000264874" "04214" "00369536" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000264875" "04214" "00369537" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000264876" "04214" "00369538" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000264877" "04214" "00369539" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000264878" "04214" "00369540" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000264879" "04214" "00369541" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000264880" "04214" "00369542" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000264881" "04214" "00369543" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000264882" "04214" "00369544" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000264883" "04214" "00369545" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000264884" "04214" "00369546" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000264885" "04214" "00369547" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000264886" "04214" "00369548" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000264887" "04214" "00369549" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000264888" "04214" "00369550" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000264889" "04214" "00369551" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000264890" "04214" "00369552" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000264891" "04214" "00369553" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000264892" "04214" "00369554" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000264893" "04214" "00369555" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000264894" "04214" "00369556" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000264895" "04214" "00369557" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000264896" "04214" "00369558" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000264897" "04214" "00369559" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000264898" "04214" "00369560" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000264899" "04214" "00369561" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000264900" "04214" "00369562" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000264901" "04214" "00369563" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000264902" "04214" "00369564" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000264903" "04214" "00369565" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000264904" "04214" "00369566" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000264905" "04214" "00369567" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000264906" "04214" "00369568" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000264907" "04214" "00369569" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000264908" "04214" "00369570" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000264909" "04214" "00369571" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000264910" "04214" "00369572" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000264911" "04214" "00369573" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000264912" "04214" "00369574" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000264913" "04214" "00369575" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000264914" "04214" "00369576" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000264915" "04214" "00369577" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000264916" "04214" "00369578" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000264917" "04214" "00369579" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000264918" "04214" "00369580" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000264919" "04214" "00369581" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000264920" "04214" "00369582" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000264921" "04214" "00369583" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000264922" "04214" "00369584" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000264923" "04214" "00369585" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000264924" "04214" "00369586" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000264925" "04214" "00369587" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000264926" "04214" "00369588" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000264927" "04214" "00369589" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000264928" "04214" "00369590" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000264929" "04214" "00369591" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000264930" "04214" "00369592" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000264931" "04214" "00369593" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000264932" "04214" "00369594" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000264933" "04214" "00369595" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000264934" "04214" "00369596" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000264935" "04214" "00369597" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000264936" "04214" "00369598" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000264937" "04214" "00369599" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000264938" "04214" "00369600" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000264939" "04214" "00369601" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000264940" "04214" "00369602" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000264941" "04214" "00369603" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000264942" "04214" "00369604" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000264943" "04214" "00369605" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000264944" "04214" "00369606" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000264945" "04214" "00369607" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000264946" "04214" "00369608" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000264947" "04214" "00369609" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000264948" "04214" "00369610" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000264949" "04214" "00369611" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000264950" "04214" "00369612" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000264951" "04214" "00369613" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000264952" "04214" "00369614" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000264953" "04214" "00369615" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000264954" "04214" "00369616" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000264955" "04214" "00369617" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000264956" "04214" "00369618" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000264957" "04214" "00369619" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000264958" "04214" "00369620" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000264959" "04214" "00369621" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000264960" "04214" "00369622" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000264961" "04214" "00369623" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000264962" "04214" "00369624" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000264963" "04214" "00369625" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000264964" "04214" "00369626" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000264965" "04214" "00369627" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000264966" "04214" "00369628" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000264967" "04214" "00369629" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000264968" "04214" "00369630" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000264969" "04214" "00369631" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000264970" "04214" "00369632" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000264971" "04214" "00369633" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000264972" "04214" "00369634" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000264973" "04214" "00369635" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000264974" "04214" "00369636" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000264975" "04214" "00369637" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000264976" "04214" "00369638" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000264977" "04214" "00369639" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000264978" "04214" "00369640" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000264979" "04214" "00369641" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000264980" "04214" "00369642" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000264981" "04214" "00369643" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000264982" "04214" "00369644" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000264983" "04214" "00369645" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000264984" "04214" "00369646" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000264985" "04214" "00369647" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000264986" "04214" "00369648" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000264987" "04214" "00369649" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000264988" "04214" "00369650" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000264989" "04214" "00369651" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000264990" "04214" "00369652" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000264991" "04214" "00369653" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000264992" "04214" "00369654" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000264993" "04214" "00369655" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000264994" "04214" "00369656" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000264995" "04214" "00369657" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000264996" "04214" "00369658" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000264997" "04214" "00369659" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000264998" "04214" "00369660" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000264999" "04214" "00369661" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000265000" "04214" "00369662" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000265001" "04214" "00369663" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000265002" "04214" "00369664" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000265003" "04214" "00369665" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000265004" "04214" "00369666" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000265005" "04214" "00369667" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000265006" "04214" "00369668" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000265007" "04214" "00369669" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000265008" "04214" "00369670" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000265009" "04214" "00369671" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000265010" "04214" "00369672" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000265011" "04214" "00369673" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000265012" "04214" "00369674" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000265013" "04214" "00369675" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000265014" "04214" "00369676" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000265015" "04214" "00369677" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000265016" "04214" "00369678" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000265017" "04214" "00369679" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000265018" "04214" "00369680" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000265019" "04214" "00369681" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000265020" "04214" "00369682" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000265021" "04214" "00369683" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000265022" "04214" "00369684" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000265023" "04214" "00369685" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000265024" "04214" "00369686" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000265025" "04214" "00369687" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000265026" "04214" "00369688" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000265027" "04214" "00369689" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000265028" "04214" "00369690" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000265029" "04214" "00369691" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000265030" "04214" "00369692" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000265031" "04214" "00369693" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000265032" "04214" "00369694" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000265033" "04214" "00369695" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000265034" "04214" "00369696" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000265035" "04214" "00369697" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000265036" "04214" "00369698" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000265037" "04214" "00369699" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000265038" "04214" "00369700" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000265039" "04214" "00369701" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000265040" "04214" "00369702" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000265041" "04214" "00369703" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000265042" "04214" "00369704" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000265043" "04214" "00369705" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000265044" "04214" "00369706" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000265045" "04214" "00369707" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000265046" "04214" "00369708" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000265047" "04214" "00369709" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000265048" "04214" "00369710" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000265049" "04214" "00369711" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000265050" "04214" "00369712" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000265051" "04214" "00369713" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000265052" "04214" "00369714" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000265053" "04214" "00369715" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000265054" "04214" "00369716" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000265055" "04214" "00369717" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000265056" "04214" "00369718" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000265057" "04214" "00369719" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000265058" "04214" "00369720" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000265059" "04214" "00369721" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000265060" "04214" "00369722" "01695" "Unknown" "" "At the age of 23, the BCVA was 20/400 OD and 20/200 OS. Fishman category was: 1" "17y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265061" "04214" "00369723" "01695" "Unknown" "" "At the age of 28, the BCVA was 20/200 OD and 20/200 OS. Fishman category was: 1" "24y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265062" "04214" "00369724" "01695" "Unknown" "" "At the age of 30, the BCVA was 20/400 OD and 20/400 OS. Fishman category was: 3" "27y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265063" "04214" "00369725" "01695" "Unknown" "" "At the age of 52, the BCVA was 20/400 OD and 20/400 OS. Fishman category was: 3" "25y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265064" "04214" "00369726" "01695" "Unknown" "" "At the age of 59, the BCVA was 20/16 OD and 20/25 OS. Fishman category was: 3" "50y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265065" "04214" "00369727" "01695" "Unknown" "" "At the age of 49, the BCVA was 20/400 OD and 20/200 OS. Fishman category was: 3" "20y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265066" "04214" "00369728" "01695" "Familial, autosomal recessive" "" "" "" "" "unknown" "" "" "" "" "" "" "retinal dystrophy" ""
"0000265067" "04214" "00369729" "01695" "Familial, autosomal recessive" "" "" "" "" "unknown" "" "" "" "" "" "" "retinal dystrophy" ""
"0000265068" "04214" "00369730" "01695" "Familial, autosomal recessive" "" "" "" "" "unknown" "" "" "" "" "" "" "retinal dystrophy" ""
"0000265069" "04214" "00369731" "01695" "Familial, autosomal recessive" "" "" "" "" "unknown" "" "" "" "" "" "" "retinal dystrophy" ""
"0000265070" "04214" "00369732" "01695" "Familial, autosomal recessive" "" "" "" "" "unknown" "" "" "" "" "" "" "retinal dystrophy" ""
"0000265071" "04214" "00369733" "01695" "Familial, autosomal recessive" "" "" "" "" "unknown" "" "" "" "" "" "" "retinal dystrophy" ""
"0000265072" "04214" "00369734" "01695" "Unknown" "" "At the age of 19, the BCVA (OD/OS) was: 0.15/0.15" "10y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265073" "04214" "00369735" "01695" "Unknown" "" "At the age of 31, the BCVA (OD/OS) was: 0.05/0.02" "10y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265074" "04214" "00369736" "01695" "Unknown" "" "At the age of 8, the BCVA (OD/OS) was: 0.05/0.1" "2y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265075" "04214" "00369737" "01695" "Unknown" "" "At the age of 22, the BCVA (OD/OS) was: 0.06/0.06" "15y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265076" "04214" "00369738" "01695" "Unknown" "" "At the age of 39, the BCVA (OD/OS) was: 0.15/0.05" "34y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265077" "04214" "00369739" "01695" "Unknown" "" "At the age of 28, the BCVA (OD/OS) was: 0.3/0.2" "23y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265078" "04214" "00369740" "01695" "Unknown" "" "At the age of 28, the BCVA (OD/OS) was: 0.07/0.05" "3y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265079" "04214" "00369741" "01695" "Unknown" "" "At the age of 22, the BCVA (OD/OS) was: 0.01/0.1" "7y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265080" "04214" "00369742" "01695" "Unknown" "" "At the age of 10, the BCVA (OD/OS) was: 0.1/0.5" "8y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265081" "04214" "00369743" "01695" "Unknown" "" "At the age of 20, the BCVA (OD/OS) was: 0.2/0.15" "10y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265082" "04214" "00369744" "01695" "Unknown" "" "At the age of 13, the BCVA (OD/OS) was: 0.3/0.6" "11y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265083" "04214" "00369745" "01695" "Unknown" "" "At the age of 16, the BCVA (OD/OS) was: 0.05/0.1" "14y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265084" "04214" "00369746" "01695" "Unknown" "" "At the age of 26, the BCVA (OD, OS) was 20/60, 20/60" "20y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265085" "04214" "00369747" "01695" "Unknown" "" "At the age of 26, the BCVA (OD, OS) was 20/30, 20/30" "26y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265086" "04214" "00369748" "01695" "Unknown" "" "At the age of 26, the BCVA (OD, OS) was N/A N/A" "24y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265087" "04214" "00369749" "01695" "Unknown" "" "At the age of 23, the BCVA (OD, OS) was N/A N/A" "23y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265088" "04214" "00369750" "01695" "Unknown" "" "ERG: Dysfunction confined to the macula" "32y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265089" "04214" "00369751" "01695" "Unknown" "" "ERG: Macular and generalized cone and rod system dysfunction" "30y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265090" "04214" "00369752" "01695" "Unknown" "" "ERG: Dysfunction confined to the macula" "14y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265091" "04214" "00369753" "01695" "Unknown" "" "ERG: Dysfunction confined to the macula" "14y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265092" "04214" "00369754" "01695" "Unknown" "" "ERG: Dysfunction confined to the macula" "17y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265093" "04214" "00369755" "01695" "Unknown" "" "ERG: Dysfunction confined to the macula" "36y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265094" "04214" "00369756" "01695" "Unknown" "" "ERG: Macular and generalized cone and rod system dysfunction" "16y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265095" "04214" "00369757" "01695" "Unknown" "" "ERG: Dysfunction confined to the macula" "29y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265096" "04214" "00369758" "01695" "Unknown" "" "ERG: Dysfunction confined to the macula" "27y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265097" "04214" "00369759" "01695" "Unknown" "" "ERG: Dysfunction confined to the macula" "33y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265098" "04214" "00369760" "01695" "Unknown" "" "ERG: Dysfunction confined to the macula" "7y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265099" "04214" "00369761" "01695" "Unknown" "" "ERG: unknown" "12y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265100" "04214" "00369762" "01695" "Unknown" "" "ERG: Dysfunction confined to the macula" "20y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265101" "04214" "00369763" "01695" "Unknown" "" "ERG: Macular and generalized cone system dysfunction" "42y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265102" "04214" "00369764" "01695" "Unknown" "" "ERG: unknown" "14y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265103" "04214" "00369765" "01695" "Unknown" "" "ERG: Dysfunction confined to the macula" "14y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265104" "04214" "00369766" "01695" "Unknown" "" "ERG: Dysfunction confined to the macula" "14y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265105" "04214" "00369767" "01695" "Unknown" "" "ERG: Dysfunction confined to the macula" "14y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265106" "04214" "00369768" "01695" "Unknown" "" "ERG: Macular and generalized cone and rod system dysfunction" "5y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265107" "04214" "00369769" "01695" "Unknown" "" "ERG: Dysfunction confined to the macula" "18y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265108" "04214" "00369770" "01695" "Unknown" "" "ERG: Dysfunction confined to the macula" "10y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265109" "04214" "00369771" "01695" "Unknown" "" "ERG: Macular and generalized cone and rod system dysfunction" "10y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265110" "04214" "00369772" "01695" "Unknown" "" "ERG: Dysfunction confined to the macula" "28y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265111" "04214" "00369773" "01695" "Unknown" "" "ERG: Dysfunction confined to the macula" "14y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265112" "04214" "00369774" "01695" "Unknown" "" "ERG: Dysfunction confined to the macula" "8y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265113" "04214" "00369775" "01695" "Unknown" "" "ERG: Dysfunction confined to the macula" "39y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265114" "04214" "00369776" "01695" "Unknown" "" "ERG: Dysfunction confined to the macula" "25y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265115" "04214" "00369777" "01695" "Unknown" "" "ERG: Dysfunction confined to the macula" "16y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265116" "04214" "00369778" "01695" "Unknown" "" "ERG: Dysfunction confined to the macula" "40y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265117" "04214" "00369779" "01695" "Unknown" "" "ERG: Dysfunction confined to the macula" "16y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265118" "04214" "00369780" "01695" "Unknown" "" "ERG: Dysfunction confined to the macula" "13y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265119" "04214" "00369781" "01695" "Unknown" "" "ERG: Dysfunction confined to the macula" "35y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265120" "04214" "00369782" "01695" "Unknown" "" "ERG: Macular and generalized cone system dysfunction" "8y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265121" "04214" "00369783" "01695" "Unknown" "" "ERG: Normal" "26y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265122" "04214" "00369784" "01695" "Unknown" "" "ERG: Dysfunction confined to the macula" "18y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265123" "04214" "00369785" "01695" "Unknown" "" "ERG: Dysfunction confined to the macula" "17y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265124" "04214" "00369786" "01695" "Unknown" "" "ERG: Macular and generalized cone and rod system dysfunction" "8y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265125" "04214" "00369787" "01695" "Unknown" "" "ERG: Macular and generalized cone and rod system dysfunction" "8y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265126" "04214" "00369788" "01695" "Unknown" "" "ERG: Dysfunction confined to the macula" "13y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265127" "04214" "00369789" "01695" "Unknown" "" "ERG: Dysfunction confined to the macula" "10y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265128" "04214" "00369790" "01695" "Unknown" "" "ERG: Dysfunction confined to the macula" "26y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265129" "04214" "00369791" "01695" "Unknown" "" "ERG: Macular and generalized cone system dysfunction" "4y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265130" "04214" "00369792" "01695" "Unknown" "" "ERG: Macular and generalized cone and rod system dysfunction" "8y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265131" "04214" "00369793" "01695" "Unknown" "" "(1) juvenile to adult onset of symptoms; (2) bilateral central vision loss; (3) macular dystrophy and/or atrophy (beaten bronze appearance or large patch of atrophy); (4) normal caliber of retinal vessels; (5) absence of pigmented bone spicules." "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265132" "04214" "00369794" "01695" "Unknown" "" "(1) juvenile to adult onset of symptoms; (2) bilateral central vision loss; (3) macular dystrophy and/or atrophy (beaten bronze appearance or large patch of atrophy); (4) normal caliber of retinal vessels; (5) absence of pigmented bone spicules." "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265133" "04214" "00369795" "01695" "Unknown" "" "(1) juvenile to adult onset of symptoms; (2) bilateral central vision loss; (3) macular dystrophy and/or atrophy (beaten bronze appearance or large patch of atrophy); (4) normal caliber of retinal vessels; (5) absence of pigmented bone spicules." "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265134" "04214" "00369796" "01695" "Unknown" "" "(1) juvenile to adult onset of symptoms; (2) bilateral central vision loss; (3) macular dystrophy and/or atrophy (beaten bronze appearance or large patch of atrophy); (4) normal caliber of retinal vessels; (5) absence of pigmented bone spicules." "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265135" "04214" "00369797" "01695" "Unknown" "" "(1) juvenile to adult onset of symptoms; (2) bilateral central vision loss; (3) macular dystrophy and/or atrophy (beaten bronze appearance or large patch of atrophy); (4) normal caliber of retinal vessels; (5) absence of pigmented bone spicules." "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265136" "04214" "00369798" "01695" "Unknown" "" "(1) juvenile to adult onset of symptoms; (2) bilateral central vision loss; (3) macular dystrophy and/or atrophy (beaten bronze appearance or large patch of atrophy); (4) normal caliber of retinal vessels; (5) absence of pigmented bone spicules." "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265137" "04214" "00369799" "01695" "Unknown" "" "(1) juvenile to adult onset of symptoms; (2) bilateral central vision loss; (3) macular dystrophy and/or atrophy (beaten bronze appearance or large patch of atrophy); (4) normal caliber of retinal vessels; (5) absence of pigmented bone spicules." "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265138" "04214" "00369800" "01695" "Unknown" "" "(1) juvenile to adult onset of symptoms; (2) bilateral central vision loss; (3) macular dystrophy and/or atrophy (beaten bronze appearance or large patch of atrophy); (4) normal caliber of retinal vessels; (5) absence of pigmented bone spicules." "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265139" "04214" "00369801" "01695" "Unknown" "" "(1) juvenile to adult onset of symptoms; (2) bilateral central vision loss; (3) macular dystrophy and/or atrophy (beaten bronze appearance or large patch of atrophy); (4) normal caliber of retinal vessels; (5) absence of pigmented bone spicules." "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265140" "04214" "00369802" "01695" "Unknown" "" "(1) juvenile to adult onset of symptoms; (2) bilateral central vision loss; (3) macular dystrophy and/or atrophy (beaten bronze appearance or large patch of atrophy); (4) normal caliber of retinal vessels; (5) absence of pigmented bone spicules." "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265141" "04214" "00369803" "01695" "Unknown" "" "(1) juvenile to adult onset of symptoms; (2) bilateral central vision loss; (3) macular dystrophy and/or atrophy (beaten bronze appearance or large patch of atrophy); (4) normal caliber of retinal vessels; (5) absence of pigmented bone spicules." "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265142" "04214" "00369804" "01695" "Unknown" "" "(1) juvenile to adult onset of symptoms; (2) bilateral central vision loss; (3) macular dystrophy and/or atrophy (beaten bronze appearance or large patch of atrophy); (4) normal caliber of retinal vessels; (5) absence of pigmented bone spicules." "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265143" "04214" "00369805" "01695" "Unknown" "" "(1) juvenile to adult onset of symptoms; (2) bilateral central vision loss; (3) macular dystrophy and/or atrophy (beaten bronze appearance or large patch of atrophy); (4) normal caliber of retinal vessels; (5) absence of pigmented bone spicules." "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265144" "04214" "00369806" "01695" "Unknown" "" "(1) juvenile to adult onset of symptoms; (2) bilateral central vision loss; (3) macular dystrophy and/or atrophy (beaten bronze appearance or large patch of atrophy); (4) normal caliber of retinal vessels; (5) absence of pigmented bone spicules." "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265145" "04214" "00369807" "01695" "Unknown" "" "(1) juvenile to adult onset of symptoms; (2) bilateral central vision loss; (3) macular dystrophy and/or atrophy (beaten bronze appearance or large patch of atrophy); (4) normal caliber of retinal vessels; (5) absence of pigmented bone spicules." "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265146" "04214" "00369808" "01695" "Unknown" "" "(1) juvenile to adult onset of symptoms; (2) bilateral central vision loss; (3) macular dystrophy and/or atrophy (beaten bronze appearance or large patch of atrophy); (4) normal caliber of retinal vessels; (5) absence of pigmented bone spicules." "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265147" "04214" "00369809" "01695" "Unknown" "" "(1) juvenile to adult onset of symptoms; (2) bilateral central vision loss; (3) macular dystrophy and/or atrophy (beaten bronze appearance or large patch of atrophy); (4) normal caliber of retinal vessels; (5) absence of pigmented bone spicules." "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265148" "04214" "00369810" "01695" "Unknown" "" "(1) juvenile to adult onset of symptoms; (2) bilateral central vision loss; (3) macular dystrophy and/or atrophy (beaten bronze appearance or large patch of atrophy); (4) normal caliber of retinal vessels; (5) absence of pigmented bone spicules." "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265149" "04214" "00369811" "01695" "Unknown" "" "(1) juvenile to adult onset of symptoms; (2) bilateral central vision loss; (3) macular dystrophy and/or atrophy (beaten bronze appearance or large patch of atrophy); (4) normal caliber of retinal vessels; (5) absence of pigmented bone spicules." "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265150" "04214" "00369812" "01695" "Unknown" "" "(1) juvenile to adult onset of symptoms; (2) bilateral central vision loss; (3) macular dystrophy and/or atrophy (beaten bronze appearance or large patch of atrophy); (4) normal caliber of retinal vessels; (5) absence of pigmented bone spicules." "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265151" "04214" "00369813" "01695" "Unknown" "" "(1) juvenile to adult onset of symptoms; (2) bilateral central vision loss; (3) macular dystrophy and/or atrophy (beaten bronze appearance or large patch of atrophy); (4) normal caliber of retinal vessels; (5) absence of pigmented bone spicules." "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265152" "04214" "00369814" "01695" "Unknown" "" "(1) juvenile to adult onset of symptoms; (2) bilateral central vision loss; (3) macular dystrophy and/or atrophy (beaten bronze appearance or large patch of atrophy); (4) normal caliber of retinal vessels; (5) absence of pigmented bone spicules." "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265153" "04214" "00369815" "01695" "Unknown" "" "(1) juvenile to adult onset of symptoms; (2) bilateral central vision loss; (3) macular dystrophy and/or atrophy (beaten bronze appearance or large patch of atrophy); (4) normal caliber of retinal vessels; (5) absence of pigmented bone spicules." "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265154" "04214" "00369816" "01695" "Unknown" "" "(1) juvenile to adult onset of symptoms; (2) bilateral central vision loss; (3) macular dystrophy and/or atrophy (beaten bronze appearance or large patch of atrophy); (4) normal caliber of retinal vessels; (5) absence of pigmented bone spicules." "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265155" "04214" "00369817" "01695" "Unknown" "" "(1) juvenile to adult onset of symptoms; (2) bilateral central vision loss; (3) macular dystrophy and/or atrophy (beaten bronze appearance or large patch of atrophy); (4) normal caliber of retinal vessels; (5) absence of pigmented bone spicules." "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265156" "04214" "00369818" "01695" "Unknown" "" "(1) juvenile to adult onset of symptoms; (2) bilateral central vision loss; (3) macular dystrophy and/or atrophy (beaten bronze appearance or large patch of atrophy); (4) normal caliber of retinal vessels; (5) absence of pigmented bone spicules." "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265157" "04214" "00369819" "01695" "Unknown" "" "(1) juvenile to adult onset of symptoms; (2) bilateral central vision loss; (3) macular dystrophy and/or atrophy (beaten bronze appearance or large patch of atrophy); (4) normal caliber of retinal vessels; (5) absence of pigmented bone spicules." "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265158" "04214" "00369820" "01695" "Unknown" "" "(1) juvenile to adult onset of symptoms; (2) bilateral central vision loss; (3) macular dystrophy and/or atrophy (beaten bronze appearance or large patch of atrophy); (4) normal caliber of retinal vessels; (5) absence of pigmented bone spicules." "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265159" "04214" "00369821" "01695" "Unknown" "" "(1) juvenile to adult onset of symptoms; (2) bilateral central vision loss; (3) macular dystrophy and/or atrophy (beaten bronze appearance or large patch of atrophy); (4) normal caliber of retinal vessels; (5) absence of pigmented bone spicules." "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265160" "04214" "00369822" "01695" "Unknown" "" "(1) juvenile to adult onset of symptoms; (2) bilateral central vision loss; (3) macular dystrophy and/or atrophy (beaten bronze appearance or large patch of atrophy); (4) normal caliber of retinal vessels; (5) absence of pigmented bone spicules." "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265161" "04214" "00369823" "01695" "Unknown" "" "(1) juvenile to adult onset of symptoms; (2) bilateral central vision loss; (3) macular dystrophy and/or atrophy (beaten bronze appearance or large patch of atrophy); (4) normal caliber of retinal vessels; (5) absence of pigmented bone spicules." "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265162" "04214" "00369824" "01695" "Unknown" "" "(1) juvenile to adult onset of symptoms; (2) bilateral central vision loss; (3) macular dystrophy and/or atrophy (beaten bronze appearance or large patch of atrophy); (4) normal caliber of retinal vessels; (5) absence of pigmented bone spicules." "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265163" "04214" "00369825" "01695" "Unknown" "" "(1) juvenile to adult onset of symptoms; (2) bilateral central vision loss; (3) macular dystrophy and/or atrophy (beaten bronze appearance or large patch of atrophy); (4) normal caliber of retinal vessels; (5) absence of pigmented bone spicules." "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265164" "04214" "00369826" "01695" "Unknown" "" "(1) juvenile to adult onset of symptoms; (2) bilateral central vision loss; (3) macular dystrophy and/or atrophy (beaten bronze appearance or large patch of atrophy); (4) normal caliber of retinal vessels; (5) absence of pigmented bone spicules." "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265165" "04214" "00369827" "01695" "Unknown" "" "(1) juvenile to adult onset of symptoms; (2) bilateral central vision loss; (3) macular dystrophy and/or atrophy (beaten bronze appearance or large patch of atrophy); (4) normal caliber of retinal vessels; (5) absence of pigmented bone spicules." "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265166" "04214" "00369828" "01695" "Unknown" "" "(1) juvenile to adult onset of symptoms; (2) bilateral central vision loss; (3) macular dystrophy and/or atrophy (beaten bronze appearance or large patch of atrophy); (4) normal caliber of retinal vessels; (5) absence of pigmented bone spicules." "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265167" "04214" "00369829" "01695" "Unknown" "" "(1) juvenile to adult onset of symptoms; (2) bilateral central vision loss; (3) macular dystrophy and/or atrophy (beaten bronze appearance or large patch of atrophy); (4) normal caliber of retinal vessels; (5) absence of pigmented bone spicules." "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265168" "04214" "00369830" "01695" "Unknown" "" "(1) juvenile to adult onset of symptoms; (2) bilateral central vision loss; (3) macular dystrophy and/or atrophy (beaten bronze appearance or large patch of atrophy); (4) normal caliber of retinal vessels; (5) absence of pigmented bone spicules." "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265169" "04214" "00369831" "01695" "Unknown" "" "(1) juvenile to adult onset of symptoms; (2) bilateral central vision loss; (3) macular dystrophy and/or atrophy (beaten bronze appearance or large patch of atrophy); (4) normal caliber of retinal vessels; (5) absence of pigmented bone spicules." "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265170" "04214" "00369832" "01695" "Unknown" "" "(1) juvenile to adult onset of symptoms; (2) bilateral central vision loss; (3) macular dystrophy and/or atrophy (beaten bronze appearance or large patch of atrophy); (4) normal caliber of retinal vessels; (5) absence of pigmented bone spicules." "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265171" "04214" "00369833" "01695" "Unknown" "" "(1) juvenile to adult onset of symptoms; (2) bilateral central vision loss; (3) macular dystrophy and/or atrophy (beaten bronze appearance or large patch of atrophy); (4) normal caliber of retinal vessels; (5) absence of pigmented bone spicules." "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265172" "04214" "00369834" "01695" "Unknown" "" "(1) juvenile to adult onset of symptoms; (2) bilateral central vision loss; (3) macular dystrophy and/or atrophy (beaten bronze appearance or large patch of atrophy); (4) normal caliber of retinal vessels; (5) absence of pigmented bone spicules." "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265173" "04214" "00369835" "01695" "Unknown" "" "(1) juvenile to adult onset of symptoms; (2) bilateral central vision loss; (3) macular dystrophy and/or atrophy (beaten bronze appearance or large patch of atrophy); (4) normal caliber of retinal vessels; (5) absence of pigmented bone spicules." "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265174" "04214" "00369836" "01695" "Unknown" "" "(1) juvenile to adult onset of symptoms; (2) bilateral central vision loss; (3) macular dystrophy and/or atrophy (beaten bronze appearance or large patch of atrophy); (4) normal caliber of retinal vessels; (5) absence of pigmented bone spicules." "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265175" "04214" "00369837" "01695" "Unknown" "" "(1) juvenile to adult onset of symptoms; (2) bilateral central vision loss; (3) macular dystrophy and/or atrophy (beaten bronze appearance or large patch of atrophy); (4) normal caliber of retinal vessels; (5) absence of pigmented bone spicules." "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265176" "04214" "00369838" "01695" "Unknown" "" "(1) juvenile to adult onset of symptoms; (2) bilateral central vision loss; (3) macular dystrophy and/or atrophy (beaten bronze appearance or large patch of atrophy); (4) normal caliber of retinal vessels; (5) absence of pigmented bone spicules." "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265177" "04214" "00369839" "01695" "Unknown" "" "(1) juvenile to adult onset of symptoms; (2) bilateral central vision loss; (3) macular dystrophy and/or atrophy (beaten bronze appearance or large patch of atrophy); (4) normal caliber of retinal vessels; (5) absence of pigmented bone spicules." "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265178" "04214" "00369840" "01695" "Unknown" "" "(1) juvenile to adult onset of symptoms; (2) bilateral central vision loss; (3) macular dystrophy and/or atrophy (beaten bronze appearance or large patch of atrophy); (4) normal caliber of retinal vessels; (5) absence of pigmented bone spicules." "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265179" "04214" "00369841" "01695" "Unknown" "" "(1) juvenile to adult onset of symptoms; (2) bilateral central vision loss; (3) macular dystrophy and/or atrophy (beaten bronze appearance or large patch of atrophy); (4) normal caliber of retinal vessels; (5) absence of pigmented bone spicules." "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265180" "04214" "00369842" "01695" "Unknown" "" "(1) juvenile to adult onset of symptoms; (2) bilateral central vision loss; (3) macular dystrophy and/or atrophy (beaten bronze appearance or large patch of atrophy); (4) normal caliber of retinal vessels; (5) absence of pigmented bone spicules." "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265181" "04214" "00369843" "01695" "Unknown" "" "(1) juvenile to adult onset of symptoms; (2) bilateral central vision loss; (3) macular dystrophy and/or atrophy (beaten bronze appearance or large patch of atrophy); (4) normal caliber of retinal vessels; (5) absence of pigmented bone spicules." "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265182" "04214" "00369844" "01695" "Unknown" "" "(1) juvenile to adult onset of symptoms; (2) bilateral central vision loss; (3) macular dystrophy and/or atrophy (beaten bronze appearance or large patch of atrophy); (4) normal caliber of retinal vessels; (5) absence of pigmented bone spicules." "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265183" "04214" "00369845" "01695" "Unknown" "" "(1) juvenile to adult onset of symptoms; (2) bilateral central vision loss; (3) macular dystrophy and/or atrophy (beaten bronze appearance or large patch of atrophy); (4) normal caliber of retinal vessels; (5) absence of pigmented bone spicules." "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265184" "04214" "00369846" "01695" "Unknown" "" "(1) juvenile to adult onset of symptoms; (2) bilateral central vision loss; (3) macular dystrophy and/or atrophy (beaten bronze appearance or large patch of atrophy); (4) normal caliber of retinal vessels; (5) absence of pigmented bone spicules." "" "" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265185" "04214" "00369847" "01695" "Unknown" "" "Inclusion criteria were a diagnosis of autosomal recessive STGD based on the pedigree and clinical phenotype of fleck deposits with or without genetic testing, or at least two pathogenic mutations in the ABCA4 gene. The exclusion criteria were history of concurrent retinal disease of other etiology, or presence of motion or media-opacity artifact in the OCTA image." "<15y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265186" "04214" "00369848" "01695" "Unknown" "" "Inclusion criteria were a diagnosis of autosomal recessive STGD based on the pedigree and clinical phenotype of fleck deposits with or without genetic testing, or at least two pathogenic mutations in the ABCA4 gene. The exclusion criteria were history of concurrent retinal disease of other etiology, or presence of motion or media-opacity artifact in the OCTA image." "<63y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265187" "04214" "00369849" "01695" "Unknown" "" "Inclusion criteria were a diagnosis of autosomal recessive STGD based on the pedigree and clinical phenotype of fleck deposits with or without genetic testing, or at least two pathogenic mutations in the ABCA4 gene. The exclusion criteria were history of concurrent retinal disease of other etiology, or presence of motion or media-opacity artifact in the OCTA image." "<36y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265188" "04214" "00369850" "01695" "Unknown" "" "Inclusion criteria were a diagnosis of autosomal recessive STGD based on the pedigree and clinical phenotype of fleck deposits with or without genetic testing, or at least two pathogenic mutations in the ABCA4 gene. The exclusion criteria were history of concurrent retinal disease of other etiology, or presence of motion or media-opacity artifact in the OCTA image." "<20y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265189" "04214" "00369851" "01695" "Unknown" "" "Inclusion criteria were a diagnosis of autosomal recessive STGD based on the pedigree and clinical phenotype of fleck deposits with or without genetic testing, or at least two pathogenic mutations in the ABCA4 gene. The exclusion criteria were history of concurrent retinal disease of other etiology, or presence of motion or media-opacity artifact in the OCTA image." "<26y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265190" "04214" "00369852" "01695" "Unknown" "" "Inclusion criteria were a diagnosis of autosomal recessive STGD based on the pedigree and clinical phenotype of fleck deposits with or without genetic testing, or at least two pathogenic mutations in the ABCA4 gene. The exclusion criteria were history of concurrent retinal disease of other etiology, or presence of motion or media-opacity artifact in the OCTA image." "<22y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265191" "04214" "00369853" "01695" "Unknown" "" "Inclusion criteria were a diagnosis of autosomal recessive STGD based on the pedigree and clinical phenotype of fleck deposits with or without genetic testing, or at least two pathogenic mutations in the ABCA4 gene. The exclusion criteria were history of concurrent retinal disease of other etiology, or presence of motion or media-opacity artifact in the OCTA image." "<60y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265192" "04214" "00369854" "01695" "Unknown" "" "Inclusion criteria were a diagnosis of autosomal recessive STGD based on the pedigree and clinical phenotype of fleck deposits with or without genetic testing, or at least two pathogenic mutations in the ABCA4 gene. The exclusion criteria were history of concurrent retinal disease of other etiology, or presence of motion or media-opacity artifact in the OCTA image." "<56y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265193" "04214" "00369855" "01695" "Unknown" "" "Inclusion criteria were a diagnosis of autosomal recessive STGD based on the pedigree and clinical phenotype of fleck deposits with or without genetic testing, or at least two pathogenic mutations in the ABCA4 gene. The exclusion criteria were history of concurrent retinal disease of other etiology, or presence of motion or media-opacity artifact in the OCTA image." "<20y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265194" "04214" "00369856" "01695" "Unknown" "" "Inclusion criteria were a diagnosis of autosomal recessive STGD based on the pedigree and clinical phenotype of fleck deposits with or without genetic testing, or at least two pathogenic mutations in the ABCA4 gene. The exclusion criteria were history of concurrent retinal disease of other etiology, or presence of motion or media-opacity artifact in the OCTA image." "<54y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265195" "04214" "00369857" "01695" "Unknown" "" "Inclusion criteria were a diagnosis of autosomal recessive STGD based on the pedigree and clinical phenotype of fleck deposits with or without genetic testing, or at least two pathogenic mutations in the ABCA4 gene. The exclusion criteria were history of concurrent retinal disease of other etiology, or presence of motion or media-opacity artifact in the OCTA image." "<57y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265196" "04214" "00369858" "01695" "Unknown" "" "Inclusion criteria were a diagnosis of autosomal recessive STGD based on the pedigree and clinical phenotype of fleck deposits with or without genetic testing, or at least two pathogenic mutations in the ABCA4 gene. The exclusion criteria were history of concurrent retinal disease of other etiology, or presence of motion or media-opacity artifact in the OCTA image." "<22y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265197" "04214" "00369859" "01695" "Unknown" "" "Inclusion criteria were a diagnosis of autosomal recessive STGD based on the pedigree and clinical phenotype of fleck deposits with or without genetic testing, or at least two pathogenic mutations in the ABCA4 gene. The exclusion criteria were history of concurrent retinal disease of other etiology, or presence of motion or media-opacity artifact in the OCTA image." "<43y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265198" "04214" "00369860" "01695" "Unknown" "" "Inclusion criteria were a diagnosis of autosomal recessive STGD based on the pedigree and clinical phenotype of fleck deposits with or without genetic testing, or at least two pathogenic mutations in the ABCA4 gene. The exclusion criteria were history of concurrent retinal disease of other etiology, or presence of motion or media-opacity artifact in the OCTA image." "<14y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265199" "04214" "00369861" "01695" "Unknown" "" "Inclusion criteria were a diagnosis of autosomal recessive STGD based on the pedigree and clinical phenotype of fleck deposits with or without genetic testing, or at least two pathogenic mutations in the ABCA4 gene. The exclusion criteria were history of concurrent retinal disease of other etiology, or presence of motion or media-opacity artifact in the OCTA image." "<27y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265200" "04214" "00369862" "01695" "Unknown" "" "Inclusion criteria were a diagnosis of autosomal recessive STGD based on the pedigree and clinical phenotype of fleck deposits with or without genetic testing, or at least two pathogenic mutations in the ABCA4 gene. The exclusion criteria were history of concurrent retinal disease of other etiology, or presence of motion or media-opacity artifact in the OCTA image." "<17y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265201" "04214" "00369863" "01695" "Unknown" "" "Inclusion criteria were a diagnosis of autosomal recessive STGD based on the pedigree and clinical phenotype of fleck deposits with or without genetic testing, or at least two pathogenic mutations in the ABCA4 gene. The exclusion criteria were history of concurrent retinal disease of other etiology, or presence of motion or media-opacity artifact in the OCTA image." "<57y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265202" "04214" "00369864" "01695" "Unknown" "" "Inclusion criteria were a diagnosis of autosomal recessive STGD based on the pedigree and clinical phenotype of fleck deposits with or without genetic testing, or at least two pathogenic mutations in the ABCA4 gene. The exclusion criteria were history of concurrent retinal disease of other etiology, or presence of motion or media-opacity artifact in the OCTA image." "<50y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265203" "04214" "00369865" "01695" "Unknown" "" "Inclusion criteria were a diagnosis of autosomal recessive STGD based on the pedigree and clinical phenotype of fleck deposits with or without genetic testing, or at least two pathogenic mutations in the ABCA4 gene. The exclusion criteria were history of concurrent retinal disease of other etiology, or presence of motion or media-opacity artifact in the OCTA image." "<49y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265204" "04214" "00369866" "01695" "Unknown" "" "Inclusion criteria were a diagnosis of autosomal recessive STGD based on the pedigree and clinical phenotype of fleck deposits with or without genetic testing, or at least two pathogenic mutations in the ABCA4 gene. The exclusion criteria were history of concurrent retinal disease of other etiology, or presence of motion or media-opacity artifact in the OCTA image." "<24y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265205" "04214" "00369867" "01695" "Unknown" "" "At the age of 36 BCVA OD was 20/150 and BCVA OS was 20/150. FAF showed central area of atrophy with or without flecks extending to the vascular arcades." "<37y" "" "unknown" "" "" "" "" "" "" "" ""
"0000265206" "04214" "00369868" "01695" "Unknown" "" "At the age of 15 BCVA OD was 20/25 and BCVA OS was 20/25. FAF showed central area of atrophy with or without flecks extending to the vascular arcades." "<16y" "" "unknown" "" "" "" "" "" "" "" ""
"0000265207" "04214" "00369869" "01695" "Unknown" "" "At the age of 10 BCVA OD was 20/50 and BCVA OS was 20/50. FAF showed central area of atrophy with or without flecks extending to the vascular arcades." "<11y" "" "unknown" "" "" "" "" "" "" "" ""
"0000265208" "04214" "00369870" "01695" "Unknown" "" "At the age of 18 BCVA OD was 20/100 and BCVA OS was 20/125. FAF showed central area of atrophy with or without flecks extending to the vascular arcades." "<19y" "" "unknown" "" "" "" "" "" "" "" ""
"0000265209" "04214" "00369871" "01695" "Unknown" "" "At the age of 34 BCVA OD was 20/25 and BCVA OS was 20/30. FAF showed central area of atrophy with or without flecks extending to the vascular arcades." "<35y" "" "unknown" "" "" "" "" "" "" "" ""
"0000265210" "04214" "00369872" "01695" "Unknown" "" "At the age of 36 BCVA OD was 20/30 and BCVA OS was 20/20. FAF showed central area of atrophy with or without flecks extending to the vascular arcades." "<37y" "" "unknown" "" "" "" "" "" "" "" ""
"0000265211" "04214" "00369873" "01695" "Unknown" "" "At the age of 16 BCVA OD was 20/50 and BCVA OS was 20/50. FAF showed central area of atrophy with or without flecks extending to the vascular arcades." "<17y" "" "unknown" "" "" "" "" "" "" "" ""
"0000265212" "04214" "00369874" "01695" "Unknown" "" "At the age of 14 BCVA OD was 20/70 and BCVA OS was 20/100. FAF showed central area of atrophy with or without flecks extending to the vascular arcades." "<15y" "" "unknown" "" "" "" "" "" "" "" ""
"0000265213" "04214" "00369875" "01695" "Unknown" "" "At the age of 51 BCVA OD was 20/100 and BCVA OS was 20/100. FAF showed a central area of atrophy, with varying degrees of flecks and inferonasal sparing." "<52y" "" "unknown" "" "" "" "" "" "" "" ""
"0000265214" "04214" "00369876" "01695" "Unknown" "" "At the age of 53 BCVA OD was 20/20 and BCVA OS was 20/50. FAF showed a central area of atrophy, with varying degrees of flecks and inferonasal sparing." "<54y" "" "unknown" "" "" "" "" "" "" "" ""
"0000265215" "04214" "00369877" "01695" "Unknown" "" "At the age of 26 BCVA OD was 20/40 and BCVA OS was 20/60. FAF showed a central area of atrophy, with varying degrees of flecks and inferonasal sparing." "<27y" "" "unknown" "" "" "" "" "" "" "" ""
"0000265216" "04214" "00369878" "01695" "Unknown" "" "At the age of 18 BCVA OD was 20/25 and BCVA OS was 20/25. FAF showed a central area of atrophy, with varying degrees of flecks and inferonasal sparing." "<19y" "" "unknown" "" "" "" "" "" "" "" ""
"0000265217" "04214" "00369879" "01695" "Unknown" "" "At the age of 13 BCVA OD was 20/25 and BCVA OS was 20/25. FAF showed a central area of atrophy, with varying degrees of flecks and inferonasal sparing." "<14y" "" "unknown" "" "" "" "" "" "" "" ""
"0000265218" "04214" "00369880" "01695" "Unknown" "" "At the age of 68 BCVA OD was 20/200 and BCVA OS was 20/70. FAF showed a central area of atrophy, with varying degrees of flecks and inferonasal sparing." "<69y" "" "unknown" "" "" "" "" "" "" "" ""
"0000265219" "04214" "00369881" "01695" "Unknown" "" "At the age of 72 BCVA OD was 20/60 and BCVA OS was 20/40. FAF showed a central area of atrophy, with varying degrees of flecks and inferonasal sparing." "<73y" "" "unknown" "" "" "" "" "" "" "" ""
"0000265220" "04214" "00369882" "01695" "Unknown" "" "At the age of 58 BCVA OD was 20/100 and BCVA OS was 20/80. FAF showed a central area of atrophy, with varying degrees of flecks and inferonasal sparing." "<59y" "" "unknown" "" "" "" "" "" "" "" ""
"0000265221" "04214" "00369883" "01695" "Unknown" "" "At the age of 17 BCVA OD was 20/200 and BCVA OS was 20/200. FAF showed central atrophy with widespread flecks." "<18y" "" "unknown" "" "" "" "" "" "" "" ""
"0000265222" "04214" "00369884" "01695" "Unknown" "" "At the age of 59 BCVA OD was 20/40 and BCVA OS was 20/40. FAF showed central atrophy with widespread flecks." "<60y" "" "unknown" "" "" "" "" "" "" "" ""
"0000265223" "04214" "00369885" "01695" "Unknown" "" "At the age of 20 BCVA OD was 20/125 and BCVA OS was 20/125. FAF showed central atrophy with widespread flecks." "<21y" "" "unknown" "" "" "" "" "" "" "" ""
"0000265224" "04214" "00369886" "01695" "Unknown" "" "At the age of 17 BCVA OD was 20/150 and BCVA OS was 20/150. FAF showed central atrophy with widespread flecks." "<18y" "" "unknown" "" "" "" "" "" "" "" ""
"0000265225" "04214" "00369887" "01695" "Unknown" "" "At the age of 13 BCVA OD was 20/400 and BCVA OS was 20/400. FAF showed central atrophy with widespread flecks." "<14y" "" "unknown" "" "" "" "" "" "" "" ""
"0000265226" "04214" "00369888" "01695" "Unknown" "" "At the age of 52 BCVA OD was 20/150 and BCVA OS was 20/100. FAF showed central atrophy with widespread flecks." "<53y" "" "unknown" "" "" "" "" "" "" "" ""
"0000265227" "04214" "00369889" "01695" "Unknown" "" "At the age of 17 BCVA OD was 20/40 and BCVA OS was 20/50. FAF showed central atrophy with widespread flecks." "<18y" "" "unknown" "" "" "" "" "" "" "" ""
"0000265228" "04214" "00369890" "01695" "Unknown" "" "At the age of 15 BCVA OD was 20/200 and BCVA OS was 20/200. FAF showed central atrophy with widespread flecks." "<16y" "" "unknown" "" "" "" "" "" "" "" ""
"0000265229" "04214" "00369891" "01695" "Unknown" "" "At the age of 63 BCVA OD was 20/25 and BCVA OS was 20/20. FAF showed central atrophy with widespread flecks." "<64y" "" "unknown" "" "" "" "" "" "" "" ""
"0000265230" "04214" "00369892" "01695" "Unknown" "" "At the age of 19 BCVA OD was 20/400 and BCVA OS was 20/400. FAF showed severe disease with central atrophy and widespread dark mottling." "<20y" "" "unknown" "" "" "" "" "" "" "" ""
"0000265231" "04214" "00369893" "01695" "Unknown" "" "At the age of 23 BCVA OD was CF and BCVA OS was CF. FAF showed severe disease with central atrophy and widespread dark mottling." "<24y" "" "unknown" "" "" "" "" "" "" "" ""
"0000265232" "04214" "00369894" "01695" "Unknown" "" "At the age of 55 BCVA OD was 20/30 and BCVA OS was 20/400. FAF showed severe disease with central atrophy and widespread dark mottling." "<56y" "" "unknown" "" "" "" "" "" "" "" ""
"0000265233" "04214" "00369895" "01695" "Unknown" "" "At the age of 47 BCVA OD was 20/25 and BCVA OS was 20/125. FAF showed severe disease with central atrophy and widespread dark mottling." "<48y" "" "unknown" "" "" "" "" "" "" "" ""
"0000265234" "04214" "00369896" "01695" "Unknown" "" "At the age of 70 BCVA OD was 20/40 and BCVA OS was 20/40. FAF showed severe disease with central atrophy and widespread dark mottling." "<71y" "" "unknown" "" "" "" "" "" "" "" ""
"0000265235" "04214" "00369897" "01695" "Unknown" "" "At the age of 35 BCVA OD was CF and BCVA OS was 20/300. FAF showed severe disease with central atrophy and widespread dark mottling." "<36y" "" "unknown" "" "" "" "" "" "" "" ""
"0000265236" "04214" "00369898" "01695" "Unknown" "" "" "<29y" "" "unknown" "" "" "" "" "" "" "macular dystrophy-C" ""
"0000265237" "04214" "00369899" "01695" "Unknown" "" "" "<24y" "" "unknown" "" "" "" "" "" "" "macular dystrophy-C" ""
"0000265238" "04214" "00369900" "01695" "Unknown" "" "" "<14y" "" "unknown" "" "" "" "" "" "" "macular dystrophy-D" ""
"0000265239" "04214" "00369901" "01695" "Unknown" "" "" "<11y" "" "unknown" "" "" "" "" "" "" "macular dystrophy-C" ""
"0000265240" "04214" "00369902" "01695" "Unknown" "" "" "<24y" "" "unknown" "" "" "" "" "" "" "macular dystrophy-D" ""
"0000265241" "04214" "00369903" "01695" "Unknown" "" "" "<28y" "" "unknown" "" "" "" "" "" "" "macular dystrophy-C" ""
"0000265242" "04214" "00369904" "01695" "Unknown" "" "" "<60y" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000265243" "04214" "00369905" "01695" "Unknown" "" "" "<58y" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000265244" "04214" "00369906" "01695" "Unknown" "" "" "<16y" "" "unknown" "" "" "" "" "" "" "macular dystrophy-C" ""
"0000265245" "04214" "00369907" "01695" "Unknown" "" "" "<44y" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000265246" "04214" "00369908" "01695" "Unknown" "" "" "<20y" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000265247" "04214" "00369909" "01695" "Unknown" "" "" "<13y" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000265248" "04214" "00369910" "01695" "Unknown" "" "" "<42y" "" "unknown" "" "" "" "" "" "" "macular dystrophy-D" ""
"0000265249" "04214" "00369911" "01695" "Unknown" "" "" "<55y" "" "unknown" "" "" "" "" "" "" "macular dystrophy-D" ""
"0000265250" "04214" "00369912" "01695" "Unknown" "" "" "<14y" "" "unknown" "" "" "" "" "" "" "macular dystrophy-D" ""
"0000265251" "04214" "00369913" "01695" "Unknown" "" "" "<64y" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000265252" "04214" "00369914" "01695" "Unknown" "" "" "<36y" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000265253" "04214" "00369915" "01695" "Unknown" "" "" "<41y" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000265254" "04214" "00369916" "01695" "Unknown" "" "" "<77y" "" "unknown" "" "" "" "" "" "" "macular dystrophy-C" ""
"0000265255" "04214" "00369917" "01695" "Unknown" "" "" "<20y" "" "unknown" "" "" "" "" "" "" "macular dystrophy-C" ""
"0000265256" "04214" "00369918" "01695" "Unknown" "" "" "<7y" "" "unknown" "" "" "" "" "" "" "macular dystrophy-D" ""
"0000265257" "04214" "00369919" "01695" "Unknown" "" "" "<4y" "" "unknown" "" "" "" "" "" "" "macular dystrophy-D" ""
"0000265258" "04214" "00369920" "01695" "Unknown" "" "" "<55y" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000265259" "04214" "00369921" "01695" "Unknown" "" "" "<49y" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000265260" "04214" "00369922" "01695" "Unknown" "" "" "<78y" "" "unknown" "" "" "" "" "" "" "macular dystrophy-D" ""
"0000265261" "04214" "00369923" "01695" "Unknown" "" "" "<46y" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000265262" "04214" "00369924" "01695" "Unknown" "" "" "<43y" "" "unknown" "" "" "" "" "" "" "macular dystrophy-C" ""
"0000265263" "04214" "00369925" "01695" "Unknown" "" "" "<22y" "" "unknown" "" "" "" "" "" "" "macular dystrophy-C" ""
"0000265264" "04214" "00369926" "01695" "Unknown" "" "" "<20y" "" "unknown" "" "" "" "" "" "" "macular dystrophy-C" ""
"0000265265" "04214" "00369927" "01695" "Unknown" "" "" "<53y" "" "unknown" "" "" "" "" "" "" "macular dystrophy-C" ""
"0000265266" "04214" "00369928" "01695" "Unknown" "" "" "<33y" "" "unknown" "" "" "" "" "" "" "macular dystrophy-C" ""
"0000265267" "04214" "00369929" "01695" "Unknown" "" "" "<69y" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000265268" "04214" "00369930" "01695" "Unknown" "" "" "<39y" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000265269" "04214" "00369931" "01695" "Unknown" "" "" "<51y" "" "unknown" "" "" "" "" "" "" "macular dystrophy-C" ""
"0000265270" "04214" "00369932" "01695" "Unknown" "" "" "<24y" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000265271" "04214" "00369933" "01695" "Unknown" "" "" "<13y" "" "unknown" "" "" "" "" "" "" "macular dystrophy-C" ""
"0000265272" "04214" "00369934" "01695" "Unknown" "" "" "<12y" "" "unknown" "" "" "" "" "" "" "macular dystrophy-C" ""
"0000265273" "04214" "00369935" "01695" "Unknown" "" "At the age of 41, BCVA OD was 1,1 and BCVA OS was 1. There were no yellowish-white flecks, FAF type was not available and ERG type was 4. More information can be found in Sun et al., 2020." "17y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265274" "04214" "00369936" "01695" "Unknown" "" "At the age of 7, BCVA OD was 0,7 and BCVA OS was 0,52. There were no yellowish-white flecks, FAF type was 1 and ERG type was 3. More information can be found in Sun et al., 2020." "6y" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000265275" "04214" "00369937" "01695" "Unknown" "" "At the age of 47, BCVA OD was 1,3 and BCVA OS was 1,52. There were no yellowish-white flecks, FAF type was 3 and ERG type was 3. More information can be found in Sun et al., 2020." "9y" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000265276" "04214" "00369938" "01695" "Unknown" "" "At the age of 14, BCVA OD was 1,98 and BCVA OS was 2,28. There were no yellowish-white flecks, FAF type was 3 and ERG type was 3. More information can be found in Sun et al., 2020." "7y" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000265277" "04214" "00369939" "01695" "Unknown" "" "At the age of 15, BCVA OD was 0,7 and BCVA OS was 0,82. There were no yellowish-white flecks, FAF type was 1 and ERG type was 1. More information can be found in Sun et al., 2020." "13y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265278" "04214" "00369940" "01695" "Unknown" "" "At the age of 6, BCVA OD was 0,4 and BCVA OS was 0,3. There were yellowish-white flecks, FAF type was 1 and ERG type was 3. More information can be found in Sun et al., 2020." "5y" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000265279" "04214" "00369941" "01695" "Unknown" "" "At the age of 15, BCVA OD was 1,3 and BCVA OS was 1,3. There were no yellowish-white flecks, FAF type was 2 and ERG type was 3. More information can be found in Sun et al., 2020." "9y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265280" "04214" "00369942" "01695" "Unknown" "" "At the age of 57, BCVA OD was 0,4 and BCVA OS was 0,4. There were no yellowish-white flecks, FAF type was 2 and ERG type was 3. More information can be found in Sun et al., 2020." "47y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265281" "04214" "00369943" "01695" "Unknown" "" "At the age of 20, BCVA OD was 1 and BCVA OS was 1,1. There were no yellowish-white flecks, FAF type was 2 and ERG type was 3. More information can be found in Sun et al., 2020." "10y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265282" "04214" "00369944" "01695" "Unknown" "" "At the age of 24, BCVA OD was 1,52 and BCVA OS was 1. There were yellowish-white flecks, FAF type was 2 and ERG type was 4. More information can be found in Sun et al., 2020." "15y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265283" "04214" "00369945" "01695" "Unknown" "" "At the age of 8, BCVA OD was 1 and BCVA OS was 1. There were no yellowish-white flecks, FAF type was 1 and ERG type was 3. More information can be found in Sun et al., 2020." "6y" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000265284" "04214" "00369946" "01695" "Unknown" "" "At the age of 14, BCVA OD was not available and BCVA OS was not available. , FAF type was 3 and ERG type was 3. More information can be found in Sun et al., 2020." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265285" "04214" "00369947" "01695" "Unknown" "" "At the age of 9, BCVA OD was 1 and BCVA OS was 0,82. There were no yellowish-white flecks, FAF type was 1 and ERG type was 4. More information can be found in Sun et al., 2020." "8y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265286" "04214" "00369948" "01695" "Unknown" "" "At the age of 38, BCVA OD was 2,28 and BCVA OS was 2,8. There were no yellowish-white flecks, FAF type was 3 and ERG type was not available. More information can be found in Sun et al., 2020." "7y" "" "unknown" "" "" "" "" "" "" "Leber congenital ameurosis" ""
"0000265287" "04214" "00369949" "01695" "Unknown" "" "At the age of 27, BCVA OD was 0,7 and BCVA OS was 0,7. There were no yellowish-white flecks, FAF type was and ERG type was 4. More information can be found in Sun et al., 2020." "23y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265288" "04214" "00369950" "01695" "Unknown" "" "At the age of 11, BCVA OD was 0,82 and BCVA OS was 1. There were no yellowish-white flecks, FAF type was 2 and ERG type was 3. More information can be found in Sun et al., 2020." "7y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265289" "04214" "00369951" "01695" "Unknown" "" "At the age of 11, BCVA OD was 0,82 and BCVA OS was 0,7. There were yellowish-white flecks, FAF type was 1 and ERG type was 1. More information can be found in Sun et al., 2020." "8y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265290" "04214" "00369952" "01695" "Unknown" "" "At the age of 12, BCVA OD was 1,1 and BCVA OS was 1,1. There were no yellowish-white flecks, FAF type was 1 and ERG type was 3. More information can be found in Sun et al., 2020." "8y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265291" "04214" "00369953" "01695" "Unknown" "" "At the age of 29, BCVA OD was 1,3 and BCVA OS was 1. There were no yellowish-white flecks, FAF type was 2 and ERG type was 3. More information can be found in Sun et al., 2020." "8y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265292" "04214" "00369954" "01695" "Unknown" "" "At the age of 21, BCVA OD was 1,22 and BCVA OS was 1,4. There were yellowish-white flecks, FAF type was 1 and ERG type was 3. More information can be found in Sun et al., 2020." "11y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265293" "04214" "00369955" "01695" "Unknown" "" "At the age of 52, BCVA OD was 1,7 and BCVA OS was 1,22. There were no yellowish-white flecks, FAF type was 3 and ERG type was 3. More information can be found in Sun et al., 2020." "10y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265294" "04214" "00369956" "01695" "Unknown" "" "At the age of 28, BCVA OD was 1 and BCVA OS was 1. There were no yellowish-white flecks, FAF type was 2 and ERG type was 3. More information can be found in Sun et al., 2020." "12y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265295" "04214" "00369957" "01695" "Unknown" "" "At the age of 9, BCVA OD was 1,4 and BCVA OS was 1,15. There were no yellowish-white flecks, FAF type was 1 and ERG type was 3. More information can be found in Sun et al., 2020." "6y" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000265296" "04214" "00369958" "01695" "Unknown" "" "At the age of 16, BCVA OD was 1 and BCVA OS was 1. There were no yellowish-white flecks, FAF type was 1 and ERG type was 3. More information can be found in Sun et al., 2020." "10y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265297" "04214" "00369959" "01695" "Unknown" "" "At the age of 24, BCVA OD was 0,7 and BCVA OS was 0,7. There were yellowish-white flecks, FAF type was 1 and ERG type was 2. More information can be found in Sun et al., 2020." "17y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265298" "04214" "00369960" "01695" "Unknown" "" "At the age of 8, BCVA OD was 0,4 and BCVA OS was 0,92. There were no yellowish-white flecks, FAF type was 1 and ERG type was not available. More information can be found in Sun et al., 2020." "8y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265299" "04214" "00369961" "01695" "Unknown" "" "At the age of 8, BCVA OD was 1,1 and BCVA OS was 1. There were no yellowish-white flecks, FAF type was 1 and ERG type was 2. More information can be found in Sun et al., 2020." "6y" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000265300" "04214" "00369962" "01695" "Unknown" "" "At the age of 39, BCVA OD was 2 and BCVA OS was 2. There were no yellowish-white flecks, FAF type was 3 and ERG type was 3. More information can be found in Sun et al., 2020." "12y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265301" "04214" "00369963" "01695" "Unknown" "" "At the age of 66, BCVA OD was 2,28 and BCVA OS was 2,28. There were no yellowish-white flecks, FAF type was and ERG type was . More information can be found in Sun et al., 2020." "7y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265302" "04214" "00369964" "01695" "Unknown" "" "At the age of 8, BCVA OD was 0,92 and BCVA OS was 0,92. There were no yellowish-white flecks, FAF type was 1 and ERG type was 2. More information can be found in Sun et al., 2020." "7y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265303" "04214" "00369965" "01695" "Unknown" "" "At the age of 13, BCVA OD was 0,92 and BCVA OS was 1. There were no yellowish-white flecks, FAF type was 1 and ERG type was 3. More information can be found in Sun et al., 2020." "11y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265304" "04214" "00369966" "01695" "Unknown" "" "At the age of 34, BCVA OD was 0,92 and BCVA OS was 1. , FAF type was 1 and ERG type was 3. More information can be found in Sun et al., 2020." "29y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265305" "04214" "00369967" "01695" "Unknown" "" "At the age of 12, BCVA OD was 0,52 and BCVA OS was 0,22. There were yellowish-white flecks, FAF type was 1 and ERG type was 1. More information can be found in Sun et al., 2020." "11y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265306" "04214" "00369968" "01695" "Unknown" "" "At the age of 44, BCVA OD was 2,28 and BCVA OS was 2,28. There were no yellowish-white flecks, FAF type was 3 and ERG type was 3. More information can be found in Sun et al., 2020." "8y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265307" "04214" "00369969" "01695" "Unknown" "" "At the age of 30, BCVA OD was 1 and BCVA OS was 1. There were no yellowish-white flecks, FAF type was 2 and ERG type was 3. More information can be found in Sun et al., 2020." "12y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265308" "04214" "00369970" "01695" "Unknown" "" "At the age of 11, BCVA OD was 1,15 and BCVA OS was 0,92. There were no yellowish-white flecks, FAF type was 1 and ERG type was 3. More information can be found in Sun et al., 2020." "9y" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000265309" "04214" "00369971" "01695" "Unknown" "" "At the age of 10, BCVA OD was 0,82 and BCVA OS was 1. There were no yellowish-white flecks, FAF type was 1 and ERG type was 2. More information can be found in Sun et al., 2020." "9y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265310" "04214" "00369972" "01695" "Unknown" "" "At the age of 45, BCVA OD was 1 and BCVA OS was 2,28. There were no yellowish-white flecks, FAF type was not available and ERG type was 3. More information can be found in Sun et al., 2020." "25y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265311" "04214" "00369973" "01695" "Unknown" "" "At the age of 21, BCVA OD was 1 and BCVA OS was 1. There were no yellowish-white flecks, FAF type was 3 and ERG type was 3. More information can be found in Sun et al., 2020." "11y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265312" "04214" "00369974" "01695" "Unknown" "" "At the age of 44, BCVA OD was 2 and BCVA OS was 2. There were no yellowish-white flecks, FAF type was 3 and ERG type was not available. More information can be found in Sun et al., 2020." "9y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265313" "04214" "00369975" "01695" "Unknown" "" "At the age of 21, BCVA OD was 1,4 and BCVA OS was 1,3. There were no yellowish-white flecks, FAF type was 3 and ERG type was 3. More information can be found in Sun et al., 2020." "8y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265314" "04214" "00369976" "01695" "Unknown" "" "At the age of 9, BCVA OD was 1 and BCVA OS was 1. There were no yellowish-white flecks, FAF type was 1 and ERG type was 3. More information can be found in Sun et al., 2020." "3y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265315" "04214" "00369977" "01695" "Unknown" "" "At the age of 38, BCVA OD was 1,3 and BCVA OS was 1,3. There were no yellowish-white flecks, FAF type was 3 and ERG type was 3. More information can be found in Sun et al., 2020." "11y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265316" "04214" "00369978" "01695" "Unknown" "" "At the age of 17, BCVA OD was 1,15 and BCVA OS was 1. There were no yellowish-white flecks, FAF type was 1 and ERG type was 1. More information can be found in Sun et al., 2020." "7y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265317" "04214" "00369979" "01695" "Unknown" "" "At the age of 25, BCVA OD was not available and BCVA OS was not available. , FAF type was not available and ERG type was not available. More information can be found in Sun et al., 2020." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265318" "04214" "00369980" "01695" "Unknown" "" "At the age of 50, BCVA OD was 2,28 and BCVA OS was 2,28. There were no yellowish-white flecks, FAF type was 3 and ERG type was 3. More information can be found in Sun et al., 2020." "13y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265319" "04214" "00369981" "01695" "Unknown" "" "At the age of 26, BCVA OD was 1 and BCVA OS was 1. There were yellowish-white flecks, FAF type was 2 and ERG type was 3. More information can be found in Sun et al., 2020." "15y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265320" "04214" "00369982" "01695" "Unknown" "" "At the age of 11, BCVA OD was 0,92 and BCVA OS was 0,92. There were yellowish-white flecks, FAF type was 2 and ERG type was not available. More information can be found in Sun et al., 2020." "8y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265321" "04214" "00369983" "01695" "Unknown" "" "At the age of 22, BCVA OD was 1 and BCVA OS was 1. There were no yellowish-white flecks, FAF type was 3 and ERG type was 3. More information can be found in Sun et al., 2020." "9y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265322" "04214" "00369984" "01695" "Unknown" "" "At the age of 52, BCVA OD was 1,98 and BCVA OS was 1,98. There were no yellowish-white flecks, FAF type was 3 and ERG type was 3. More information can be found in Sun et al., 2020." "40y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265323" "04214" "00369985" "01695" "Unknown" "" "At the age of 7, BCVA OD was 1 and BCVA OS was 1. There were no yellowish-white flecks, FAF type was 1 and ERG type was 1. More information can be found in Sun et al., 2020." "6y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265324" "04214" "00369986" "01695" "Unknown" "" "At the age of 20, BCVA OD was not available and BCVA OS was not available. , FAF type was not available and ERG type was not available. More information can be found in Sun et al., 2020." "12y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265325" "04214" "00369987" "01695" "Unknown" "" "At the age of 35, BCVA OD was 2 and BCVA OS was 1,52. There were no yellowish-white flecks, FAF type was 3 and ERG type was 3. More information can be found in Sun et al., 2020." "11y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265326" "04214" "00369988" "01695" "Unknown" "" "At the age of 25, BCVA OD was 0,3 and BCVA OS was 0,3. There were yellowish-white flecks, FAF type was 1 and ERG type was 1. More information can be found in Sun et al., 2020." "24y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265327" "04214" "00369989" "01695" "Unknown" "" "At the age of 6, BCVA OD was 0,22 and BCVA OS was 0,22. There were no yellowish-white flecks, FAF type was 1 and ERG type was not available. More information can be found in Sun et al., 2020." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265328" "04214" "00369990" "01695" "Unknown" "" "At the age of 15, BCVA OD was 1,3 and BCVA OS was 1,3. , FAF type was 2 and ERG type was 2. More information can be found in Sun et al., 2020." "9y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265329" "04214" "00369991" "01695" "Unknown" "" "At the age of 45, BCVA OD was 1 and BCVA OS was 1,22. There were no yellowish-white flecks, FAF type was 3 and ERG type was 3. More information can be found in Sun et al., 2020." "14y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265330" "04214" "00369992" "01695" "Unknown" "" "At the age of 24, BCVA OD was 1,98 and BCVA OS was 1,3. There were no yellowish-white flecks, FAF type was 3 and ERG type was 3. More information can be found in Sun et al., 2020." "10y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265331" "04214" "00369993" "01695" "Unknown" "" "At the age of 27, BCVA OD was 0,52 and BCVA OS was 1,3. There were no yellowish-white flecks, FAF type was 1 and ERG type was 1. More information can be found in Sun et al., 2020." "27y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265332" "04214" "00369994" "01695" "Unknown" "" "At the age of 22, BCVA OD was 2 and BCVA OS was 1,52. There were no yellowish-white flecks, FAF type was 3 and ERG type was 3. More information can be found in Sun et al., 2020." "8y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265333" "04214" "00369995" "01695" "Unknown" "" "At the age of 35, BCVA OD was 1 and BCVA OS was 1. There were yellowish-white flecks, FAF type was and ERG type was 1. More information can be found in Sun et al., 2020." "31y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265334" "04214" "00369996" "01695" "Unknown" "" "At the age of 19, BCVA OD was 1,7 and BCVA OS was 1,7. There were no yellowish-white flecks, FAF type was 2 and ERG type was 3. More information can be found in Sun et al., 2020." "10y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265335" "04214" "00369997" "01695" "Unknown" "" "At the age of 15, BCVA OD was 1 and BCVA OS was 1. There were no yellowish-white flecks, FAF type was 3 and ERG type was 3. More information can be found in Sun et al., 2020." "9y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265336" "04214" "00369998" "01695" "Unknown" "" "At the age of 8, BCVA OD was 1,05 and BCVA OS was 1,1. There were no yellowish-white flecks, FAF type was 1 and ERG type was 3. More information can be found in Sun et al., 2020." "7y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265337" "04214" "00369999" "01695" "Unknown" "" "At the age of 18, BCVA OD was 1,4 and BCVA OS was 1. There were yellowish-white flecks, FAF type was 1 and ERG type was 2. More information can be found in Sun et al., 2020." "12y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265338" "04214" "00370000" "01695" "Unknown" "" "At the age of 33, BCVA OD was 2 and BCVA OS was 2. There were no yellowish-white flecks, FAF type was 3 and ERG type was 2. More information can be found in Sun et al., 2020." "10y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265339" "04214" "00370001" "01695" "Unknown" "" "At the age of 7, BCVA OD was 1,3 and BCVA OS was 1,3. There were no yellowish-white flecks, FAF type was 1 and ERG type was 3. More information can be found in Sun et al., 2020." "4y" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000265340" "04214" "00370002" "01695" "Unknown" "" "At the age of 13, BCVA OD was 1,4 and BCVA OS was 1,4. There were no yellowish-white flecks, FAF type was 2 and ERG type was 3. More information can be found in Sun et al., 2020." "7y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265341" "04214" "00370003" "01695" "Unknown" "" "At the age of 28, BCVA OD was 1,3 and BCVA OS was 1,4. There were no yellowish-white flecks, FAF type was 3 and ERG type was 3. More information can be found in Sun et al., 2020." "13y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265342" "04214" "00370004" "01695" "Unknown" "" "At the age of 10, BCVA OD was 1,7 and BCVA OS was 1,22. There were no yellowish-white flecks, FAF type was 1 and ERG type was 3. More information can be found in Sun et al., 2020." "8y" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000265343" "04214" "00370005" "01695" "Unknown" "" "At the age of 25, BCVA OD was 0,1 and BCVA OS was 0,6. There were no yellowish-white flecks, FAF type was 1 and ERG type was 1. More information can be found in Sun et al., 2020." "10y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265344" "04214" "00370006" "01695" "Unknown" "" "At the age of 34, BCVA OD was 1,7 and BCVA OS was 1,7. There were no yellowish-white flecks, FAF type was 3 and ERG type was 3. More information can be found in Sun et al., 2020." "13y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265345" "04214" "00370007" "01695" "Unknown" "" "At the age of 35, BCVA OD was 0 and BCVA OS was 0. There were yellowish-white flecks, FAF type was 2 and ERG type was 4. More information can be found in Sun et al., 2020." "29y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265346" "04214" "00370008" "01695" "Unknown" "" "At the age of 39, BCVA OD was 0,22 and BCVA OS was 0,22. There were no yellowish-white flecks, FAF type was 1 and ERG type was 4. More information can be found in Sun et al., 2020." "38y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265347" "04214" "00370009" "01695" "Unknown" "" "At the age of 23, BCVA OD was 1,1 and BCVA OS was 1. There were no yellowish-white flecks, FAF type was not available and ERG type was 3. More information can be found in Sun et al., 2020." "10y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265348" "04214" "00370010" "01695" "Unknown" "" "At the age of 12, BCVA OD was 1,1 and BCVA OS was 1. There were yellowish-white flecks, FAF type was not available and ERG type was not available. More information can be found in Sun et al., 2020." "7y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265349" "04214" "00370011" "01695" "Unknown" "" "At the age of 41, BCVA OD was 0,4 and BCVA OS was 0,3. There were yellowish-white flecks, FAF type was 1 and ERG type was 1. More information can be found in Sun et al., 2020." "40y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265350" "04214" "00370012" "01695" "Unknown" "" "At the age of 14, BCVA OD was 1 and BCVA OS was 1. There were no yellowish-white flecks, FAF type was 1 and ERG type was 1. More information can be found in Sun et al., 2020." "7y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265351" "04214" "00370013" "01695" "Unknown" "" "At the age of 41, BCVA OD was 0,7 and BCVA OS was 0,7. There were yellowish-white flecks, FAF type was not available and ERG type was 3. More information can be found in Sun et al., 2020." "26y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265352" "04214" "00370014" "01695" "Unknown" "" "At the age of 10, BCVA OD was 0,92 and BCVA OS was 0,92. There were no yellowish-white flecks, FAF type was 1 and ERG type was 1. More information can be found in Sun et al., 2020." "9y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265353" "04214" "00370015" "01695" "Unknown" "" "At the age of 13, BCVA OD was 1 and BCVA OS was 1. There were yellowish-white flecks, FAF type was 2 and ERG type was 3. More information can be found in Sun et al., 2020." "9y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265354" "04214" "00370016" "01695" "Unknown" "" "At the age of 10, BCVA OD was 0,92 and BCVA OS was 0,82. There were no yellowish-white flecks, FAF type was 2 and ERG type was 3. More information can be found in Sun et al., 2020." "9y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265355" "04214" "00370017" "01695" "Unknown" "" "At the age of 41, BCVA OD was not available and BCVA OS was not available. , FAF type was not available and ERG type was 3. More information can be found in Sun et al., 2020." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265356" "04214" "00370018" "01695" "Unknown" "" "At the age of 7, BCVA OD was 1,3 and BCVA OS was 1,3. There were no yellowish-white flecks, FAF type was 1 and ERG type was 3. More information can be found in Sun et al., 2020." "7y" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000265357" "04214" "00370019" "01695" "Unknown" "" "At the age of 23, BCVA OD was 1 and BCVA OS was 1. There were yellowish-white flecks, FAF type was 1 and ERG type was 1. More information can be found in Sun et al., 2020." "17y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265358" "04214" "00370020" "01695" "Unknown" "" "At the age of 17, BCVA OD was 1 and BCVA OS was 1. There were no yellowish-white flecks, FAF type was 3 and ERG type was 3. More information can be found in Sun et al., 2020." "6y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265359" "04214" "00370021" "01695" "Unknown" "" "At the age of 22, BCVA OD was 1,3 and BCVA OS was 1,3. , FAF type was not available and ERG type was not available. More information can be found in Sun et al., 2020." "8y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265360" "04214" "00370022" "01695" "Unknown" "" "At the age of 12, BCVA OD was 0,22 and BCVA OS was 0,4. There were yellowish-white flecks, FAF type was not available and ERG type was 3. More information can be found in Sun et al., 2020." "6y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265361" "04214" "00370023" "01695" "Unknown" "" "At the age of 10, BCVA OD was 0,52 and BCVA OS was 0,92. There were yellowish-white flecks, FAF type was 1 and ERG type was 2. More information can be found in Sun et al., 2020." "10y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265362" "04214" "00370024" "01695" "Unknown" "" "At the age of 12, BCVA OD was 0,82 and BCVA OS was 0,82. There were yellowish-white flecks, FAF type was 2 and ERG type was 1. More information can be found in Sun et al., 2020." "11y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265363" "04214" "00370025" "01695" "Unknown" "" "At the age of 25, BCVA OD was 1 and BCVA OS was 1. There were no yellowish-white flecks, FAF type was 3 and ERG type was 3. More information can be found in Sun et al., 2020." "13y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265364" "04214" "00370026" "01695" "Unknown" "" "At the age of 61, BCVA OD was 2,8 and BCVA OS was 2,8. There were no yellowish-white flecks, FAF type was not available and ERG type was not available. More information can be found in Sun et al., 2020." "10y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265365" "04214" "00370027" "01695" "Unknown" "" "At the age of 51, BCVA OD was 0,3 and BCVA OS was 0,6. There were no yellowish-white flecks, FAF type was not available and ERG type was 1. More information can be found in Sun et al., 2020." "49y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265366" "04214" "00370028" "01695" "Unknown" "" "At the age of 25, BCVA OD was 1 and BCVA OS was 1. There were no yellowish-white flecks, FAF type was 2 and ERG type was 3. More information can be found in Sun et al., 2020." "7y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265367" "04214" "00370029" "01695" "Unknown" "" "At the age of not available, BCVA OD was not available and BCVA OS was not available. There were no yellowish-white flecks, FAF type was not available and ERG type was not available. More information can be found in Sun et al., 2020." "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000265368" "04214" "00370030" "01695" "Unknown" "" "At the age of not available, BCVA OD was not available and BCVA OS was not available. There were no yellowish-white flecks, FAF type was not available and ERG type was not available. More information can be found in Sun et al., 2020." "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000265369" "04214" "00370031" "01695" "Unknown" "" "At the age of 44, BCVA OD was 1 and BCVA OS was 1. There were yellowish-white flecks, FAF type was not available and ERG type was not available. More information can be found in Sun et al., 2020." "20y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265370" "04214" "00370032" "01695" "Unknown" "" "At the age of 39, BCVA OD was 0,7 and BCVA OS was 1. There were yellowish-white flecks, FAF type was not available and ERG type was not available. More information can be found in Sun et al., 2020." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265371" "04214" "00370033" "01695" "Unknown" "" "At the age of 35, BCVA OD was 1,52 and BCVA OS was 1,3. There were no yellowish-white flecks, FAF type was 3 and ERG type was 3. More information can be found in Sun et al., 2020." "7y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265372" "04214" "00370034" "01695" "Unknown" "" "At the age of 33, BCVA OD was 1,52 and BCVA OS was 1,52. There were no yellowish-white flecks, FAF type was not available and ERG type was 3. More information can be found in Sun et al., 2020." "9y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265373" "04214" "00370035" "01695" "Unknown" "" "At the age of 10, BCVA OD was not available and BCVA OS was not available. There were yellowish-white flecks, FAF type was 2 and ERG type was not available. More information can be found in Sun et al., 2020." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265374" "04214" "00370036" "01695" "Unknown" "" "At the age of 44, BCVA OD was 1 and BCVA OS was 1. There were no yellowish-white flecks, FAF type was 3 and ERG type was 3. More information can be found in Sun et al., 2020." "10y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265375" "04214" "00370037" "01695" "Unknown" "" "At the age of not available, BCVA OD was not available and BCVA OS was not available. , FAF type was not available and ERG type was not available. More information can be found in Sun et al., 2020." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265376" "04214" "00370038" "01695" "Unknown" "" "At the age of 67, BCVA OD was not available and BCVA OS was not available. , FAF type was not available and ERG type was not available. More information can be found in Sun et al., 2020." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265377" "04214" "00370039" "01695" "Unknown" "" "At the age of 40, BCVA OD was 2,8 and BCVA OS was 2,8. There were no yellowish-white flecks, FAF type was 3 and ERG type was not available. More information can be found in Sun et al., 2020." "9y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265378" "04214" "00370040" "01695" "Unknown" "" "At the age of 24, BCVA OD was 0,7 and BCVA OS was 0,7. There were no yellowish-white flecks, FAF type was not available and ERG type was 1. More information can be found in Sun et al., 2020." "14y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265379" "04214" "00370041" "01695" "Unknown" "" "At the age of 18, BCVA OD was 1 and BCVA OS was 0,82. There were yellowish-white flecks, FAF type was not available and ERG type was 2. More information can be found in Sun et al., 2020." "12y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265380" "04214" "00370042" "01695" "Unknown" "" "At the age of 19, BCVA OD was 1,98 and BCVA OS was 1,7. There were no yellowish-white flecks, FAF type was 2 and ERG type was 3. More information can be found in Sun et al., 2020." "10y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265381" "04214" "00370043" "01695" "Unknown" "" "At the age of 19, BCVA OD was 1,98 and BCVA OS was 1,98. There were no yellowish-white flecks, FAF type was 3 and ERG type was 3. More information can be found in Sun et al., 2020." "7y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265382" "04214" "00370044" "01695" "Unknown" "" "At the age of 20, BCVA OD was not available and BCVA OS was not available. , FAF type was not available and ERG type was not available. More information can be found in Sun et al., 2020." "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000265383" "04214" "00370045" "01695" "Unknown" "" "At the age of 46, BCVA OD was 2,28 and BCVA OS was 2,28. There were no yellowish-white flecks, FAF type was 3 and ERG type was 3. More information can be found in Sun et al., 2020." "7y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265384" "04214" "00370046" "01695" "Unknown" "" "At the age of not available, BCVA OD was not available and BCVA OS was not available. , FAF type was not available and ERG type was not available. More information can be found in Sun et al., 2020." "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000265385" "04214" "00370047" "01695" "Unknown" "" "At the age of 12, BCVA OD was 1 and BCVA OS was 1. There were no yellowish-white flecks, FAF type was not available and ERG type was 2. More information can be found in Sun et al., 2020." "11y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265386" "04214" "00370048" "01695" "Unknown" "" "At the age of 47, BCVA OD was 1,15 and BCVA OS was 1,52. There were no yellowish-white flecks, FAF type was 3 and ERG type was not available. More information can be found in Sun et al., 2020." "7y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265387" "04214" "00370049" "01695" "Unknown" "" "At the age of 14, BCVA OD was not available and BCVA OS was not available. , FAF type was not available and ERG type was not available. More information can be found in Sun et al., 2020." "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265388" "04214" "00370050" "01695" "Unknown" "" "ABCAopathy" "8y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265389" "04214" "00370051" "01695" "Unknown" "" "ABCAopathy" "14y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265390" "04214" "00370052" "01695" "Unknown" "" "ABCAopathy" "6y" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000265391" "04214" "00370053" "01695" "Unknown" "" "" "<52y" "" "unknown" "" "" "" "" "" "" "" ""
"0000265392" "04214" "00370054" "01695" "Unknown" "" "" "<30y" "" "unknown" "" "" "" "" "" "" "" ""
"0000265393" "04214" "00370055" "01695" "Unknown" "" "" "<52y" "" "unknown" "" "" "" "" "" "" "" ""
"0000265394" "04214" "00370056" "01695" "Unknown" "" "" "<27y" "" "unknown" "" "" "" "" "" "" "" ""
"0000265395" "04214" "00370057" "01695" "Unknown" "" "" "<12y" "" "unknown" "" "" "" "" "" "" "" ""
"0000265396" "04214" "00370058" "01695" "Unknown" "" "" "<30y" "" "unknown" "" "" "" "" "" "" "" ""
"0000265397" "04214" "00370059" "01695" "Unknown" "" "" "<54y" "" "unknown" "" "" "" "" "" "" "" ""
"0000265398" "04214" "00370060" "01695" "Unknown" "" "" "<41y" "" "unknown" "" "" "" "" "" "" "" ""
"0000265399" "04214" "00370061" "01695" "Unknown" "" "" "<48y" "" "unknown" "" "" "" "" "" "" "" ""
"0000265400" "04214" "00370062" "01695" "Unknown" "" "" "<13y" "" "unknown" "" "" "" "" "" "" "" ""
"0000265401" "04214" "00370063" "01695" "Unknown" "" "" "<64y" "" "unknown" "" "" "" "" "" "" "" ""
"0000265402" "04214" "00370064" "01695" "Unknown" "" "" "<19y" "" "unknown" "" "" "" "" "" "" "" ""
"0000265403" "04214" "00370065" "01695" "Unknown" "" "" "<38y" "" "unknown" "" "" "" "" "" "" "" ""
"0000265404" "04214" "00370066" "01695" "Unknown" "" "" "<13y" "" "unknown" "" "" "" "" "" "" "" ""
"0000265405" "04214" "00370067" "01695" "Unknown" "" "" "<41y" "" "unknown" "" "" "" "" "" "" "" ""
"0000265406" "04214" "00370068" "01695" "Unknown" "" "" "<43y" "" "unknown" "" "" "" "" "" "" "" ""
"0000265407" "04214" "00370069" "01695" "Unknown" "" "" "<26y" "" "unknown" "" "" "" "" "" "" "" ""
"0000265408" "04214" "00370070" "01695" "Unknown" "" "" "<36y" "" "unknown" "" "" "" "" "" "" "" ""
"0000265409" "04214" "00370071" "01695" "Unknown" "" "" "<8y" "" "unknown" "" "" "" "" "" "" "" ""
"0000265410" "04214" "00370072" "01695" "Unknown" "" "" "<31y" "" "unknown" "" "" "" "" "" "" "" ""
"0000265411" "04214" "00370073" "01695" "Unknown" "" "" "<71y" "" "unknown" "" "" "" "" "" "" "" ""
"0000265412" "04214" "00370074" "01695" "Unknown" "" "" "<16y" "" "unknown" "" "" "" "" "" "" "" ""
"0000265413" "04214" "00370075" "01695" "Unknown" "" "" "<28y" "" "unknown" "" "" "" "" "" "" "" ""
"0000265414" "04214" "00370076" "01695" "Unknown" "" "" "<13y" "" "unknown" "" "" "" "" "" "" "" ""
"0000265415" "04214" "00370077" "01695" "Unknown" "" "" "<34y" "" "unknown" "" "" "" "" "" "" "" ""
"0000265416" "04214" "00370078" "01695" "Unknown" "" "" "<41y" "" "unknown" "" "" "" "" "" "" "" ""
"0000265417" "04214" "00370079" "01695" "Unknown" "" "" "<38y" "" "unknown" "" "" "" "" "" "" "" ""
"0000265418" "04214" "00370080" "01695" "Unknown" "" "" "<42y" "" "unknown" "" "" "" "" "" "" "" ""
"0000265419" "04214" "00370081" "01695" "Unknown" "" "" "<51y" "" "unknown" "" "" "" "" "" "" "" ""
"0000265420" "04214" "00370082" "01695" "Unknown" "" "" "<67y" "" "unknown" "" "" "" "" "" "" "" ""
"0000265421" "04214" "00370083" "01695" "Unknown" "" "" "<38y" "" "unknown" "" "" "" "" "" "" "" ""
"0000265422" "04214" "00370084" "01695" "Unknown" "" "" "<24y" "" "unknown" "" "" "" "" "" "" "" ""
"0000265423" "04214" "00370085" "01695" "Unknown" "" "" "<14y" "" "unknown" "" "" "" "" "" "" "" ""
"0000265424" "04214" "00370086" "01695" "Unknown" "" "" "<25y" "" "unknown" "" "" "" "" "" "" "" ""
"0000265425" "04214" "00370087" "01695" "Unknown" "" "" "<65y" "" "unknown" "" "" "" "" "" "" "" ""
"0000265426" "04214" "00370088" "01695" "Unknown" "" "" "<31y" "" "unknown" "" "" "" "" "" "" "" ""
"0000265427" "04214" "00370089" "01695" "Unknown" "" "" "<42y" "" "unknown" "" "" "" "" "" "" "" ""
"0000265428" "04214" "00370090" "01695" "Unknown" "" "" "<52y" "" "unknown" "" "" "" "" "" "" "" ""
"0000265429" "04214" "00370091" "01695" "Unknown" "" "" "<31y" "" "unknown" "" "" "" "" "" "" "" ""
"0000265430" "04214" "00370092" "01695" "Unknown" "" "" "<23y" "" "unknown" "" "" "" "" "" "" "" ""
"0000265431" "04214" "00370093" "01695" "Unknown" "" "" "<55y" "" "unknown" "" "" "" "" "" "" "" ""
"0000265432" "04214" "00370094" "01695" "Unknown" "" "" "<46y" "" "unknown" "" "" "" "" "" "" "" ""
"0000265433" "04214" "00370095" "01695" "Unknown" "" "" "<65y" "" "unknown" "" "" "" "" "" "" "" ""
"0000265434" "04214" "00370096" "01695" "Unknown" "" "" "<65y" "" "unknown" "" "" "" "" "" "" "" ""
"0000265435" "04214" "00370097" "01695" "Unknown" "" "" "<37y" "" "unknown" "" "" "" "" "" "" "" ""
"0000265436" "04214" "00370098" "01695" "Unknown" "" "" "<81y" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000265437" "04214" "00370099" "01695" "Unknown" "" "" "<52y" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000265438" "04214" "00370100" "01695" "Unknown" "" "" "<61y" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000265439" "04214" "00370101" "01695" "Unknown" "" "" "<20y" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000265440" "04214" "00370102" "01695" "Unknown" "" "" "<64y" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000265441" "04214" "00370103" "01695" "Unknown" "" "" "<38y" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000265442" "04214" "00370104" "01695" "Unknown" "" "" "<48y" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000265443" "04214" "00370105" "01695" "Unknown" "" "" "<25y" "" "unknown" "" "" "" "" "" "" "" ""
"0000265444" "04214" "00370106" "01695" "Unknown" "" "" "<53y" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000265445" "04214" "00370107" "01695" "Unknown" "" "" "<40y" "" "unknown" "" "" "" "" "" "" "" ""
"0000265446" "04214" "00370108" "01695" "Unknown" "" "" "<18y" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000265447" "04214" "00370109" "01695" "Unknown" "" "" "<58y" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000265448" "04214" "00370110" "01695" "Unknown" "" "" "<21y" "" "unknown" "" "" "" "" "" "" "" ""
"0000265449" "04214" "00370111" "01695" "Unknown" "" "" "<63y" "" "unknown" "" "" "" "" "" "" "" ""
"0000265450" "04214" "00370112" "01695" "Unknown" "" "" "<22y" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000265451" "04214" "00370113" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000265452" "04214" "00370114" "01695" "Unknown" "" "" "<24y" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000265453" "04214" "00370115" "01695" "Unknown" "" "" "<32y" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000265454" "04214" "00370116" "01695" "Unknown" "" "" "<63y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265455" "04214" "00370117" "01695" "Unknown" "" "" "<54y" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000265456" "04214" "00370118" "01695" "Unknown" "" "" "<28y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265457" "04214" "00370119" "01695" "Unknown" "" "" "<42y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265458" "04214" "00370120" "01695" "Unknown" "" "" "<49y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265459" "04214" "00370121" "01695" "Unknown" "" "" "<33y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265460" "04214" "00370122" "01695" "Unknown" "" "" "<54y" "" "unknown" "" "" "" "" "" "" "" ""
"0000265461" "04214" "00370123" "01695" "Unknown" "" "" "<50y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265462" "04214" "00370124" "01695" "Unknown" "" "" "<38y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265463" "04214" "00370125" "01695" "Unknown" "" "" "<22y" "" "unknown" "" "" "" "" "" "" "" ""
"0000265464" "04214" "00370126" "01695" "Unknown" "" "" "<56y" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000265465" "04214" "00370127" "01695" "Unknown" "" "" "<22y" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000265466" "04214" "00370128" "01695" "Unknown" "" "" "<24y" "" "unknown" "" "" "" "" "" "" "" ""
"0000265467" "04214" "00370129" "01695" "Unknown" "" "" "<25y" "" "unknown" "" "" "" "" "" "" "" ""
"0000265468" "04214" "00370130" "01695" "Unknown" "" "" "<37y" "" "unknown" "" "" "" "" "" "" "" ""
"0000265469" "04214" "00370131" "01695" "Unknown" "" "" "<12y" "" "unknown" "" "" "" "" "" "" "" ""
"0000265470" "04214" "00370132" "01695" "Unknown" "" "" "<40y" "" "unknown" "" "" "" "" "" "" "" ""
"0000265471" "04214" "00370133" "01695" "Unknown" "" "" "<10y" "" "unknown" "" "" "" "" "" "" "" ""
"0000265472" "04214" "00370134" "01695" "Unknown" "" "" "<52y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265473" "04214" "00370135" "01695" "Unknown" "" "" "<59y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265474" "04214" "00370136" "01695" "Unknown" "" "" "<44y" "" "unknown" "" "" "" "" "" "" "" ""
"0000265475" "04214" "00370137" "01695" "Unknown" "" "" "<34y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265476" "04214" "00370138" "01695" "Unknown" "" "" "<18y" "" "unknown" "" "" "" "" "" "" "" ""
"0000265477" "04214" "00370139" "01695" "Unknown" "" "" "<43y" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000265478" "04214" "00370140" "01695" "Unknown" "" "" "<31y" "" "unknown" "" "" "" "" "" "" "" ""
"0000265479" "04214" "00370141" "01695" "Unknown" "" "" "<9y" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000265480" "04214" "00370142" "01695" "Unknown" "" "" "<21y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265481" "04214" "00370143" "01695" "Unknown" "" "" "<16y" "" "unknown" "" "" "" "" "" "" "" ""
"0000265482" "04214" "00370144" "01695" "Unknown" "" "" "<73y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265483" "04214" "00370145" "01695" "Unknown" "" "" "<11y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265484" "04214" "00370146" "01695" "Unknown" "" "" "<35y" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000265485" "04214" "00370147" "01695" "Unknown" "" "" "<36y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265486" "04214" "00370148" "01695" "Unknown" "" "" "<66y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265487" "04214" "00370149" "01695" "Unknown" "" "" "<37y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265488" "04214" "00370150" "01695" "Unknown" "" "" "<65y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265489" "04214" "00370151" "01695" "Unknown" "" "" "<31y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265490" "04214" "00370152" "01695" "Unknown" "" "" "<47y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265491" "04214" "00370153" "01695" "Unknown" "" "" "<52y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265492" "04214" "00370154" "01695" "Unknown" "" "" "<64y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265493" "04214" "00370155" "01695" "Unknown" "" "" "<48y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265494" "04214" "00370156" "01695" "Unknown" "" "" "<14y" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000265495" "04214" "00370157" "01695" "Unknown" "" "" "<39y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265496" "04214" "00370158" "01695" "Unknown" "" "" "<15y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265497" "04214" "00370159" "01695" "Unknown" "" "" "<21y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265498" "04214" "00370160" "01695" "Unknown" "" "" "<14y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265499" "04214" "00370161" "01695" "Unknown" "" "" "<30y" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000265500" "04214" "00370162" "01695" "Unknown" "" "" "<66y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265501" "04214" "00370163" "01695" "Unknown" "" "" "<56y" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000265502" "04214" "00370164" "01695" "Unknown" "" "" "<30y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265503" "04214" "00370165" "01695" "Unknown" "" "" "<39y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265504" "04214" "00370166" "01695" "Unknown" "" "" "<38y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265505" "04214" "00370167" "01695" "Unknown" "" "" "<20y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265506" "04214" "00370168" "01695" "Unknown" "" "" "<37y" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000265507" "04214" "00370169" "01695" "Unknown" "" "" "<71y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265508" "04214" "00370170" "01695" "Unknown" "" "" "<52y" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000265509" "04214" "00370171" "01695" "Unknown" "" "" "<40y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265510" "04214" "00370172" "01695" "Unknown" "" "" "<59y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265511" "04214" "00370173" "01695" "Unknown" "" "" "<44y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265512" "04214" "00370174" "01695" "Unknown" "" "" "<30y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265513" "04214" "00370175" "01695" "Unknown" "" "" "<20y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265514" "04214" "00370176" "01695" "Unknown" "" "" "<62y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265515" "04214" "00370177" "01695" "Unknown" "" "" "<64y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265516" "04214" "00370178" "01695" "Unknown" "" "" "<19y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265517" "04214" "00370179" "01695" "Unknown" "" "" "<75y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265518" "04214" "00370180" "01695" "Unknown" "" "" "<47y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265519" "04214" "00370181" "01695" "Unknown" "" "" "<82y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265520" "04214" "00370182" "01695" "Unknown" "" "" "<66y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265521" "04214" "00370183" "01695" "Unknown" "" "" "<32y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265522" "04214" "00370184" "01695" "Unknown" "" "" "<30y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265523" "04214" "00370185" "01695" "Unknown" "" "" "<77y" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000265524" "04214" "00370186" "01695" "Unknown" "" "" "<59y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265525" "04214" "00370187" "01695" "Unknown" "" "" "<42y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265526" "04214" "00370188" "01695" "Unknown" "" "" "<24y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265527" "04214" "00370189" "01695" "Unknown" "" "" "<9y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265528" "04214" "00370190" "01695" "Unknown" "" "" "<56y" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000265529" "04214" "00370191" "01695" "Unknown" "" "" "<19y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265530" "04214" "00370192" "01695" "Unknown" "" "" "<78y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265531" "04214" "00370193" "01695" "Unknown" "" "" "<70y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265532" "04214" "00370194" "01695" "Unknown" "" "" "<76y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265533" "04214" "00370195" "01695" "Unknown" "" "" "<51y" "" "unknown" "" "" "" "" "" "" "" ""
"0000265534" "04214" "00370196" "01695" "Unknown" "" "" "<24y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265535" "04214" "00370197" "01695" "Unknown" "" "" "<46y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265536" "04214" "00370198" "01695" "Unknown" "" "" "<60y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265537" "04214" "00370199" "01695" "Unknown" "" "" "<52y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265538" "04214" "00370200" "01695" "Unknown" "" "" "<60y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265539" "04214" "00370201" "01695" "Unknown" "" "" "<76y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265540" "04214" "00370202" "01695" "Unknown" "" "" "<22y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265541" "04214" "00370203" "01695" "Unknown" "" "" "<50y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265542" "04214" "00370204" "01695" "Unknown" "" "" "<48y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265543" "04214" "00370205" "01695" "Unknown" "" "" "<72y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265544" "04214" "00370206" "01695" "Unknown" "" "" "<41y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265545" "04214" "00370207" "01695" "Unknown" "" "" "<54y" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000265546" "04214" "00370208" "01695" "Unknown" "" "" "<66y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265547" "04214" "00370209" "01695" "Unknown" "" "" "<43y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265548" "04214" "00370210" "01695" "Unknown" "" "" "<50y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265549" "04214" "00370211" "01695" "Unknown" "" "" "<76y" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000265550" "04214" "00370212" "01695" "Unknown" "" "" "<58y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265551" "04214" "00370213" "01695" "Unknown" "" "" "<58y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265552" "04214" "00370214" "01695" "Unknown" "" "" "<39y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265553" "04214" "00370215" "01695" "Unknown" "" "" "<22y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265554" "04214" "00370216" "01695" "Familial, autosomal recessive" "" "" "<11y" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000265555" "04214" "00370217" "01695" "Unknown" "" "" "<13y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265556" "04214" "00370218" "01695" "Unknown" "" "" "<73y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265557" "04214" "00370219" "01695" "Unknown" "" "" "<57y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265558" "04214" "00370220" "01695" "Unknown" "" "" "<62y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265559" "04214" "00370221" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265560" "04214" "00370222" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265561" "04214" "00370223" "01695" "Unknown" "" "" "<68y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265562" "04214" "00370224" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265563" "04214" "00370225" "01695" "Unknown" "" "" "<29y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265564" "04214" "00370226" "01695" "Unknown" "" "" "<53y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265565" "04214" "00370227" "01695" "Unknown" "" "" "<66y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265566" "04214" "00370228" "01695" "Unknown" "" "" "<40y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265567" "04214" "00370229" "01695" "Unknown" "" "" "<71y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265568" "04214" "00370230" "01695" "Unknown" "" "" "<49y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265569" "04214" "00370231" "01695" "Unknown" "" "" "<67y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265570" "04214" "00370232" "01695" "Unknown" "" "" "<67y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265571" "04214" "00370233" "01695" "Unknown" "" "" "<41y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265572" "04214" "00370234" "01695" "Unknown" "" "" "<65y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265573" "04214" "00370235" "01695" "Unknown" "" "" "<52y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265574" "04214" "00370236" "01695" "Unknown" "" "" "<59y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265575" "04214" "00370237" "01695" "Unknown" "" "" "<21y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265576" "04214" "00370238" "01695" "Unknown" "" "" "<72y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265577" "04214" "00370239" "01695" "Unknown" "" "" "<17y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265578" "04214" "00370240" "01695" "Unknown" "" "" "<82y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265579" "04214" "00370241" "01695" "Unknown" "" "" "<70y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265580" "04214" "00370242" "01695" "Unknown" "" "" "<58y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265581" "04214" "00370243" "01695" "Unknown" "" "" "<68y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265582" "04214" "00370244" "01695" "Unknown" "" "" "<52y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265583" "04214" "00370245" "01695" "Unknown" "" "" "<7y" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000265584" "04214" "00370246" "01695" "Unknown" "" "" "<34y" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000265585" "04214" "00370247" "01695" "Unknown" "" "" "<29y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265586" "04214" "00370248" "01695" "Unknown" "" "" "<40y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265587" "04214" "00370249" "01695" "Unknown" "" "" "<17y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265588" "04214" "00370250" "01695" "Familial, autosomal recessive" "" "" "<19y" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000265589" "04214" "00370251" "01695" "Unknown" "" "" "<51y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265590" "04214" "00370252" "01695" "Unknown" "" "" "<33y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265591" "04214" "00370253" "01695" "Unknown" "" "" "<32y" "" "unknown" "" "" "" "" "" "" "" ""
"0000265592" "04214" "00370254" "01695" "Unknown" "" "" "<38y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265593" "04214" "00370255" "01695" "Unknown" "" "" "<71y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265594" "04214" "00370256" "01695" "Unknown" "" "" "<44y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265595" "04214" "00370257" "01695" "Unknown" "" "" "<9y" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000265596" "04214" "00370258" "01695" "Unknown" "" "" "<19y" "" "unknown" "" "" "" "" "" "" "" ""
"0000265597" "04214" "00370259" "01695" "Familial, autosomal recessive" "" "" "<29y" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000265598" "04214" "00370260" "01695" "Unknown" "" "" "<19y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265599" "04214" "00370261" "01695" "Unknown" "" "" "<9y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265600" "04214" "00370262" "01695" "Unknown" "" "" "<22y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265601" "04214" "00370263" "01695" "Unknown" "" "" "<1y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265602" "04214" "00370264" "01695" "Unknown" "" "" "<33y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265603" "04214" "00370265" "01695" "Unknown" "" "" "<72y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265604" "04214" "00370266" "01695" "Unknown" "" "" "<37y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265605" "04214" "00370267" "01695" "Unknown" "" "" "<56y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265606" "04214" "00370268" "01695" "Unknown" "" "" "<45y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265607" "04214" "00370269" "01695" "Unknown" "" "" "<86y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265608" "04214" "00370270" "01695" "Unknown" "" "" "<35y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265609" "04214" "00370271" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265610" "04214" "00370272" "01695" "Unknown" "" "" "<27y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265611" "04214" "00370273" "01695" "Unknown" "" "" "<57y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265612" "04214" "00370274" "01695" "Unknown" "" "" "<60y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265613" "04214" "00370275" "01695" "Unknown" "" "" "<49y" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000265614" "04214" "00370276" "01695" "Unknown" "" "" "<37y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265615" "04214" "00370277" "01695" "Unknown" "" "" "<43y" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000265616" "04214" "00370278" "01695" "Unknown" "" "" "<31y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265617" "04214" "00370279" "01695" "Unknown" "" "" "<24y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265618" "04214" "00370280" "01695" "Unknown" "" "" "<77y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265619" "04214" "00370281" "01695" "Unknown" "" "" "<28y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265620" "04214" "00370282" "01695" "Unknown" "" "" "<74y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265621" "04214" "00370283" "01695" "Unknown" "" "" "<48y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265622" "04214" "00370284" "01695" "Unknown" "" "" "<34y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265623" "04214" "00370285" "01695" "Unknown" "" "" "<50y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265624" "04214" "00370286" "01695" "Unknown" "" "" "<60y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265625" "04214" "00370287" "01695" "Unknown" "" "" "<26y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265626" "04214" "00370288" "01695" "Unknown" "" "" "<37y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265627" "04214" "00370289" "01695" "Unknown" "" "" "<26y" "" "unknown" "" "" "" "" "" "" "" ""
"0000265628" "04214" "00370290" "01695" "Unknown" "" "" "<12y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265629" "04214" "00370291" "01695" "Unknown" "" "" "<51y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265630" "04214" "00370292" "01695" "Unknown" "" "" "<48y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265631" "04214" "00370293" "01695" "Unknown" "" "" "<34y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265632" "04214" "00370294" "01695" "Unknown" "" "" "<14y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265633" "04214" "00370295" "01695" "Unknown" "" "" "<12y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265634" "04214" "00370296" "01695" "Unknown" "" "" "<32y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265635" "04214" "00370297" "01695" "Unknown" "" "" "<34y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265636" "04214" "00370298" "01695" "Unknown" "" "" "<40y" "" "unknown" "" "" "" "" "" "" "" ""
"0000265637" "04214" "00370299" "01695" "Unknown" "" "" "<6y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265638" "04214" "00370300" "01695" "Familial, autosomal recessive" "" "" "<66y" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000265639" "04214" "00370301" "01695" "Unknown" "" "" "<58y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265640" "04214" "00370302" "01695" "Unknown" "" "" "<59y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265641" "04214" "00370303" "01695" "Unknown" "" "" "<69y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265642" "04214" "00370304" "01695" "Unknown" "" "" "<34y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265643" "04214" "00370305" "01695" "Unknown" "" "" "<64y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265644" "04214" "00370306" "01695" "Unknown" "" "" "<11y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265645" "04214" "00370307" "01695" "Unknown" "" "" "<70y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265646" "04214" "00370308" "01695" "Unknown" "" "" "<61y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265647" "04214" "00370309" "01695" "Unknown" "" "" "<51y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265648" "04214" "00370310" "01695" "Unknown" "" "" "<65y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265649" "04214" "00370311" "01695" "Familial, autosomal recessive" "" "" "<65y" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000265650" "04214" "00370312" "01695" "Unknown" "" "" "<10y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265651" "04214" "00370313" "01695" "Unknown" "" "" "<17y" "" "unknown" "" "" "" "" "" "" "" ""
"0000265652" "04214" "00370314" "01695" "Unknown" "" "" "<40y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265653" "04214" "00370315" "01695" "Unknown" "" "" "<87y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265654" "04214" "00370316" "01695" "Unknown" "" "" "<28y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265655" "04214" "00370317" "01695" "Unknown" "" "" "<93y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265656" "04214" "00370318" "01695" "Unknown" "" "" "<56y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265657" "04214" "00370319" "01695" "Unknown" "" "" "<64y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265658" "04214" "00370320" "01695" "Unknown" "" "" "<60y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265659" "04214" "00370321" "01695" "Unknown" "" "" "<89y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265660" "04214" "00370322" "01695" "Unknown" "" "" "<31y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265661" "04214" "00370323" "01695" "Unknown" "" "" "<72y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265662" "04214" "00370324" "01695" "Unknown" "" "" "<84y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265663" "04214" "00370325" "01695" "Unknown" "" "" "<35y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265664" "04214" "00370326" "01695" "Unknown" "" "" "<40y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265665" "04214" "00370327" "01695" "Unknown" "" "" "<51y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265666" "04214" "00370328" "01695" "Unknown" "" "" "<83y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265667" "04214" "00370329" "01695" "Unknown" "" "" "<38y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265668" "04214" "00370330" "01695" "Unknown" "" "" "<27y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265669" "04214" "00370331" "01695" "Unknown" "" "" "<84y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265670" "04214" "00370332" "01695" "Unknown" "" "" "<62y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265671" "04214" "00370333" "01695" "Unknown" "" "" "<27y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265672" "04214" "00370334" "01695" "Unknown" "" "" "<53y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265673" "04214" "00370335" "01695" "Unknown" "" "" "<64y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265674" "04214" "00370336" "01695" "Unknown" "" "" "<48y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265675" "04214" "00370337" "01695" "Unknown" "" "" "<42y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265676" "04214" "00370338" "01695" "Unknown" "" "" "<78y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265677" "04214" "00370339" "01695" "Unknown" "" "" "<46y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265678" "04214" "00370340" "01695" "Unknown" "" "" "<48y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265679" "04214" "00370341" "01695" "Unknown" "" "" "<61y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265680" "04214" "00370342" "01695" "Unknown" "" "" "<17y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265681" "04214" "00370343" "01695" "Unknown" "" "" "<58y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265682" "04214" "00370344" "01695" "Unknown" "" "" "<31y" "" "unknown" "" "" "" "" "" "" "" ""
"0000265683" "04214" "00370345" "01695" "Unknown" "" "" "<29y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265684" "04214" "00370346" "01695" "Unknown" "" "" "<35y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265685" "04214" "00370347" "01695" "Unknown" "" "" "<70y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265686" "04214" "00370348" "01695" "Unknown" "" "" "<56y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265687" "04214" "00370349" "01695" "Unknown" "" "" "<37y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265688" "04214" "00370350" "01695" "Unknown" "" "" "<57y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265689" "04214" "00370351" "01695" "Unknown" "" "" "<46y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265690" "04214" "00370352" "01695" "Unknown" "" "" "<11y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265691" "04214" "00370353" "01695" "Unknown" "" "" "<38y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265692" "04214" "00370354" "01695" "Unknown" "" "" "<66y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265693" "04214" "00370355" "01695" "Unknown" "" "" "<46y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265694" "04214" "00370356" "01695" "Unknown" "" "" "<52y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265695" "04214" "00370357" "01695" "Unknown" "" "" "<12y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265696" "04214" "00370358" "01695" "Unknown" "" "" "<58y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265697" "04214" "00370359" "01695" "Unknown" "" "" "<13y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265698" "04214" "00370360" "01695" "Unknown" "" "" "<26y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265699" "04214" "00370361" "01695" "Unknown" "" "" "<17y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265700" "04214" "00370362" "01695" "Unknown" "" "" "<45y" "" "unknown" "" "" "" "" "" "" "" ""
"0000265701" "04214" "00370363" "01695" "Unknown" "" "" "<64y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265702" "04214" "00370364" "01695" "Unknown" "" "" "<49y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265703" "04214" "00370365" "01695" "Unknown" "" "" "<38y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265704" "04214" "00370366" "01695" "Unknown" "" "" "<34y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265705" "04214" "00370367" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "" "" ""
"0000265706" "04214" "00370368" "01695" "Unknown" "" "" "<36y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265707" "04214" "00370369" "01695" "Unknown" "" "" "<51y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265708" "04214" "00370370" "01695" "Unknown" "" "" "<71y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265709" "04214" "00370371" "01695" "Unknown" "" "" "<55y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265710" "04214" "00370372" "01695" "Unknown" "" "" "<69y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265711" "04214" "00370373" "01695" "Unknown" "" "" "<42y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265712" "04214" "00370374" "01695" "Unknown" "" "" "<51y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265713" "04214" "00370375" "01695" "Unknown" "" "" "<66y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265714" "04214" "00370376" "01695" "Unknown" "" "" "<22y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265715" "04214" "00370377" "01695" "Familial, autosomal recessive" "" "" "<20y" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000265716" "04214" "00370378" "01695" "Unknown" "" "" "<28y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265717" "04214" "00370379" "01695" "Unknown" "" "" "<14y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265718" "04214" "00370380" "01695" "Unknown" "" "" "<47y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265719" "04214" "00370381" "01695" "Unknown" "" "" "<83y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265720" "04214" "00370382" "01695" "Unknown" "" "" "<56y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265721" "04214" "00370383" "01695" "Unknown" "" "" "<38y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265722" "04214" "00370384" "01695" "Unknown" "" "" "<61y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265723" "04214" "00370385" "01695" "Unknown" "" "" "<75y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265724" "04214" "00370386" "01695" "Unknown" "" "" "<26y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265725" "04214" "00370387" "01695" "Unknown" "" "" "<36y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265726" "04214" "00370388" "01695" "Unknown" "" "" "<84y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265727" "04214" "00370389" "01695" "Unknown" "" "" "<60y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265728" "04214" "00370390" "01695" "Unknown" "" "" "<39y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265729" "04214" "00370391" "01695" "Unknown" "" "" "<49y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265730" "04214" "00370392" "01695" "Unknown" "" "" "<63y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265731" "04214" "00370393" "01695" "Unknown" "" "" "<35y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265732" "04214" "00370394" "01695" "Unknown" "" "" "<70y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265733" "04214" "00370395" "01695" "Unknown" "" "" "<37y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265734" "04214" "00370396" "01695" "Unknown" "" "" "<47y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265735" "04214" "00370397" "01695" "Unknown" "" "" "<39y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265736" "04214" "00370398" "01695" "Unknown" "" "" "<59y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265737" "04214" "00370399" "01695" "Unknown" "" "" "<41y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265738" "04214" "00370400" "01695" "Unknown" "" "" "<10y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265739" "04214" "00370401" "01695" "Unknown" "" "" "<14y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265740" "04214" "00370402" "01695" "Unknown" "" "" "<11y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265741" "04214" "00370403" "01695" "Unknown" "" "" "<63y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265742" "04214" "00370404" "01695" "Unknown" "" "" "<57y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265743" "04214" "00370405" "01695" "Unknown" "" "" "<70y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265744" "04214" "00370406" "01695" "Unknown" "" "" "<31y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265745" "04214" "00370407" "01695" "Unknown" "" "" "<67y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265746" "04214" "00370408" "01695" "Unknown" "" "" "<69y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265747" "04214" "00370409" "01695" "Unknown" "" "" "<48y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265748" "04214" "00370410" "01695" "Unknown" "" "" "<91y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265749" "04214" "00370411" "01695" "Unknown" "" "" "<28y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265750" "04214" "00370412" "01695" "Unknown" "" "" "<23y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265751" "04214" "00370413" "01695" "Unknown" "" "" "<63y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265752" "04214" "00370414" "01695" "Unknown" "" "" "<61y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265753" "04214" "00370415" "01695" "Unknown" "" "" "<89y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265754" "04214" "00370416" "01695" "Unknown" "" "" "<26y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265755" "04214" "00370417" "01695" "Unknown" "" "" "<55y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265756" "04214" "00370418" "01695" "Unknown" "" "" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265757" "04214" "00370419" "01695" "Unknown" "" "" "<57y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265758" "04214" "00370420" "01695" "Unknown" "" "" "<93y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265759" "04214" "00370421" "01695" "Unknown" "" "" "<62y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265760" "04214" "00370422" "01695" "Unknown" "" "" "<46y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265761" "04214" "00370423" "01695" "Unknown" "" "" "<58y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265762" "04214" "00370424" "01695" "Unknown" "" "" "<46y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265763" "04214" "00370425" "01695" "Unknown" "" "" "<37y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265764" "04214" "00370426" "01695" "Unknown" "" "" "<26y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265765" "04214" "00370427" "01695" "Unknown" "" "" "<64y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265766" "04214" "00370428" "01695" "Unknown" "" "" "<28y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265767" "04214" "00370429" "01695" "Unknown" "" "" "<64y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265768" "04214" "00370430" "01695" "Unknown" "" "" "<50y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265769" "04214" "00370431" "01695" "Unknown" "" "" "<82y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265770" "04214" "00370432" "01695" "Unknown" "" "" "<70y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265771" "04214" "00370433" "01695" "Unknown" "" "" "<57y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265772" "04214" "00370434" "01695" "Unknown" "" "" "<51y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265773" "04214" "00370435" "01695" "Unknown" "" "" "<8y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265774" "04214" "00370436" "01695" "Unknown" "" "" "<61y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265775" "04214" "00370437" "01695" "Unknown" "" "" "<53y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265776" "04214" "00370438" "01695" "Unknown" "" "" "<71y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265777" "04214" "00370439" "01695" "Unknown" "" "" "<18y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265778" "04214" "00370440" "01695" "Unknown" "" "" "<47y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265779" "04214" "00370441" "01695" "Unknown" "" "" "<25y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265780" "04214" "00370442" "01695" "Unknown" "" "" "<20y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265781" "04214" "00370443" "01695" "Unknown" "" "" "<20y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265782" "04214" "00370444" "01695" "Unknown" "" "" "<24y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265783" "04214" "00370445" "01695" "Unknown" "" "" "<22y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265784" "04214" "00370446" "01695" "Unknown" "" "" "<66y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265785" "04214" "00370447" "01695" "Unknown" "" "" "<45y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265786" "04214" "00370448" "01695" "Unknown" "" "" "<38y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265787" "04214" "00370449" "01695" "Unknown" "" "" "<35y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265788" "04214" "00370450" "01695" "Unknown" "" "" "<69y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265789" "04214" "00370451" "01695" "Unknown" "" "" "<52y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265790" "04214" "00370452" "01695" "Unknown" "" "" "<45y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265791" "04214" "00370453" "01695" "Unknown" "" "" "<19y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265792" "04214" "00370454" "01695" "Unknown" "" "" "<23y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265793" "04214" "00370455" "01695" "Unknown" "" "" "<37y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265794" "04214" "00370456" "01695" "Unknown" "" "" "<12y" "" "unknown" "" "" "" "" "" "" "" ""
"0000265795" "04214" "00370457" "01695" "Unknown" "" "" "<27y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265796" "04214" "00370458" "01695" "Unknown" "" "" "<25y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265797" "04214" "00370459" "01695" "Unknown" "" "" "<39y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265798" "04214" "00370460" "01695" "Unknown" "" "" "<33y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265799" "04214" "00370461" "01695" "Unknown" "" "" "<34y" "" "unknown" "" "" "" "" "" "" "" ""
"0000265800" "04214" "00370462" "01695" "Unknown" "" "" "<82y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265801" "04214" "00370463" "01695" "Unknown" "" "" "<65y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265802" "04214" "00370464" "01695" "Unknown" "" "" "<29y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265803" "04214" "00370465" "01695" "Unknown" "" "" "<83y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265804" "04214" "00370466" "01695" "Unknown" "" "" "<72y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265805" "04214" "00370467" "01695" "Unknown" "" "" "<35y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265806" "04214" "00370468" "01695" "Unknown" "" "" "<77y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265807" "04214" "00370469" "01695" "Unknown" "" "" "<60y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265808" "04214" "00370470" "01695" "Unknown" "" "" "<48y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265809" "04214" "00370471" "01695" "Unknown" "" "" "<52y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265810" "04214" "00370472" "01695" "Unknown" "" "" "<31y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265811" "04214" "00370473" "01695" "Unknown" "" "" "<45y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265812" "04214" "00370474" "01695" "Unknown" "" "" "<66y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265813" "04214" "00370475" "01695" "Unknown" "" "" "<59y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265814" "04214" "00370476" "01695" "Unknown" "" "" "<76y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265815" "04214" "00370477" "01695" "Unknown" "" "" "<62y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265816" "04214" "00370478" "01695" "Unknown" "" "" "<48y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265817" "04214" "00370479" "01695" "Unknown" "" "" "<57y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265818" "04214" "00370480" "01695" "Unknown" "" "" "<30y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265819" "04214" "00370481" "01695" "Familial, autosomal recessive" "" "" "<44y" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000265820" "04214" "00370482" "01695" "Unknown" "" "" "<18y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265821" "04214" "00370483" "01695" "Unknown" "" "" "<52y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265822" "04214" "00370484" "01695" "Unknown" "" "" "<44y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265823" "04214" "00370485" "01695" "Unknown" "" "" "<34y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265824" "04214" "00370486" "01695" "Unknown" "" "" "<18y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265825" "04214" "00370487" "01695" "Unknown" "" "" "<38y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265826" "04214" "00370488" "01695" "Unknown" "" "" "<89y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265827" "04214" "00370489" "01695" "Unknown" "" "" "<66y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265828" "04214" "00370490" "01695" "Unknown" "" "" "<78y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265829" "04214" "00370491" "01695" "Unknown" "" "" "<28y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265830" "04214" "00370492" "01695" "Unknown" "" "" "<71y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265831" "04214" "00370493" "01695" "Unknown" "" "" "<79y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265832" "04214" "00370494" "01695" "Unknown" "" "" "<74y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265833" "04214" "00370495" "01695" "Unknown" "" "" "<66y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265834" "04214" "00370496" "01695" "Unknown" "" "" "<65y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265835" "04214" "00370497" "01695" "Unknown" "" "" "<68y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265836" "04214" "00370498" "01695" "Unknown" "" "" "<62y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265837" "04214" "00370499" "01695" "Unknown" "" "" "<46y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265838" "04214" "00370500" "01695" "Unknown" "" "" "<73y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265839" "04214" "00370501" "01695" "Unknown" "" "" "<58y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265840" "04214" "00370502" "01695" "Unknown" "" "" "<77y" "" "unknown" "" "" "" "" "" "" "IRD" ""
"0000265841" "04214" "00370503" "01695" "Unknown" "" "" "<35y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265842" "04214" "00370504" "01695" "Unknown" "" "" "<26y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265843" "04214" "00370505" "01695" "Unknown" "" "" "<48y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265844" "04214" "00370506" "01695" "Unknown" "" "" "<38y" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265845" "04214" "00370507" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265846" "04214" "00370508" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265847" "04214" "00370509" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265848" "04214" "00370510" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265849" "04214" "00370511" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265850" "04214" "00370512" "01695" "Unknown" "" "CRD" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000265851" "04214" "00370513" "01695" "Unknown" "" "RP and other Retinal degenerations" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa and other retinal degenerations" ""
"0000265852" "04214" "00370514" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265853" "04214" "00370515" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265854" "04214" "00370516" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265855" "04214" "00370517" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265856" "04214" "00370518" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265857" "04214" "00370519" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265858" "04214" "00370520" "01695" "Unknown" "" "RP and other Retinal degenerations" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa and other retinal degenerations" ""
"0000265859" "04214" "00370521" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265860" "04214" "00370522" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265861" "04214" "00370523" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265862" "04214" "00370524" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265863" "04214" "00370525" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265864" "04214" "00370526" "01695" "Unknown" "" "RP and other Retinal degenerations" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa and other retinal degenerations" ""
"0000265865" "04214" "00370527" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265866" "04214" "00370528" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265867" "04214" "00370529" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265868" "04214" "00370530" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265869" "04214" "00370531" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265870" "04214" "00370532" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265871" "04214" "00370533" "01695" "Unknown" "" "Pattern Dystrophy and Adult onset Foveomacular Dystrophy" "" "" "unknown" "" "" "" "" "" "" "pattern dystrophy and adult onset foveomacular dystrophy" ""
"0000265872" "04214" "00370534" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265873" "04214" "00370535" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265874" "04214" "00370536" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265875" "04214" "00370537" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265876" "04214" "00370538" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265877" "04214" "00370539" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265878" "04214" "00370540" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265879" "04214" "00370541" "01695" "Unknown" "" "RP and other Retinal degenerations" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa and other retinal degenerations" ""
"0000265880" "04214" "00370542" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265881" "04214" "00370543" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265882" "04214" "00370544" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265883" "04214" "00370545" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265884" "04214" "00370546" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265885" "04214" "00370547" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265886" "04214" "00370548" "01695" "Unknown" "" "CRD" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000265887" "04214" "00370549" "01695" "Unknown" "" "CRD" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000265888" "04214" "00370550" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265889" "04214" "00370551" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265890" "04214" "00370552" "01695" "Unknown" "" "RP and other Retinal degenerations" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa and other retinal degenerations" ""
"0000265891" "04214" "00370553" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265892" "04214" "00370554" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265893" "04214" "00370555" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265894" "04214" "00370556" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265895" "04214" "00370557" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265896" "04214" "00370558" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265897" "04214" "00370559" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265898" "04214" "00370560" "01695" "Unknown" "" "CRD" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000265899" "04214" "00370561" "01695" "Unknown" "" "CRD" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000265900" "04214" "00370562" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265901" "04214" "00370563" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265902" "04214" "00370564" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265903" "04214" "00370565" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265904" "04214" "00370566" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265905" "04214" "00370567" "01695" "Unknown" "" "CRD" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000265906" "04214" "00370568" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265907" "04214" "00370569" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265908" "04214" "00370570" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265909" "04214" "00370571" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265910" "04214" "00370572" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265911" "04214" "00370573" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265912" "04214" "00370574" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265913" "04214" "00370575" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265914" "04214" "00370576" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265915" "04214" "00370577" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265916" "04214" "00370578" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265917" "04214" "00370579" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265918" "04214" "00370580" "01695" "Unknown" "" "RP and other Retinal degenerations" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa and other retinal degenerations" ""
"0000265919" "04214" "00370581" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265920" "04214" "00370582" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265921" "04214" "00370583" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265922" "04214" "00370584" "01695" "Unknown" "" "Pattern Dystrophy and Adult onset Foveomacular Dystrophy" "" "" "unknown" "" "" "" "" "" "" "pattern dystrophy and adult onset foveomacular dystrophy" ""
"0000265923" "04214" "00370585" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265924" "04214" "00370586" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265925" "04214" "00370587" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265926" "04214" "00370588" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265927" "04214" "00370589" "01695" "Unknown" "" "RP and other Retinal degenerations" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa and other retinal degenerations" ""
"0000265928" "04214" "00370590" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265929" "04214" "00370591" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265930" "04214" "00370592" "01695" "Unknown" "" "RP and other Retinal degenerations" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa and other retinal degenerations" ""
"0000265931" "04214" "00370593" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265932" "04214" "00370594" "01695" "Unknown" "" "CRD" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000265933" "04214" "00370595" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265934" "04214" "00370596" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265935" "04214" "00370597" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265936" "04214" "00370598" "01695" "Unknown" "" "CRD" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000265937" "04214" "00370599" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265938" "04214" "00370600" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265939" "04214" "00370601" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265940" "04214" "00370602" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265941" "04214" "00370603" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265942" "04214" "00370604" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265943" "04214" "00370605" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265944" "04214" "00370606" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265945" "04214" "00370607" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265946" "04214" "00370608" "01695" "Unknown" "" "RP and other Retinal degenerations" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa and other retinal degenerations" ""
"0000265947" "04214" "00370609" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265948" "04214" "00370610" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265949" "04214" "00370611" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265950" "04214" "00370612" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265951" "04214" "00370613" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265952" "04214" "00370614" "01695" "Unknown" "" "CRD" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000265953" "04214" "00370615" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265954" "04214" "00370616" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265955" "04214" "00370617" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265956" "04214" "00370618" "01695" "Unknown" "" "CRD" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000265957" "04214" "00370619" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265958" "04214" "00370620" "01695" "Unknown" "" "CRD" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000265959" "04214" "00370621" "01695" "Unknown" "" "CRD" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000265960" "04214" "00370622" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265961" "04214" "00370623" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265962" "04214" "00370624" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265963" "04214" "00370625" "01695" "Unknown" "" "RP and other Retinal degenerations" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa and other retinal degenerations" ""
"0000265964" "04214" "00370626" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265965" "04214" "00370627" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265966" "04214" "00370628" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265967" "04214" "00370629" "01695" "Unknown" "" "CRD" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000265968" "04214" "00370630" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265969" "04214" "00370631" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265970" "04214" "00370632" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265971" "04214" "00370633" "01695" "Unknown" "" "Pattern Dystrophy and Adult onset Foveomacular Dystrophy" "" "" "unknown" "" "" "" "" "" "" "pattern dystrophy and adult onset foveomacular dystrophy" ""
"0000265972" "04214" "00370634" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265973" "04214" "00370635" "01695" "Unknown" "" "CRD" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000265974" "04214" "00370636" "01695" "Unknown" "" "RP and other Retinal degenerations" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa and other retinal degenerations" ""
"0000265975" "04214" "00370637" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265976" "04214" "00370638" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265977" "04214" "00370639" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265978" "04214" "00370640" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265979" "04214" "00370641" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265980" "04214" "00370642" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265981" "04214" "00370643" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265982" "04214" "00370644" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265983" "04214" "00370645" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265984" "04214" "00370646" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265985" "04214" "00370647" "01695" "Unknown" "" "CRD" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000265986" "04214" "00370648" "01695" "Unknown" "" "CRD" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000265987" "04214" "00370649" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265988" "04214" "00370650" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265989" "04214" "00370651" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265990" "04214" "00370652" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265991" "04214" "00370653" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265992" "04214" "00370654" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265993" "04214" "00370655" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265994" "04214" "00370656" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265995" "04214" "00370657" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265996" "04214" "00370658" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265997" "04214" "00370659" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265998" "04214" "00370660" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000265999" "04214" "00370661" "01695" "Unknown" "" "CRD" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000266000" "04214" "00370662" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266001" "04214" "00370663" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266002" "04214" "00370664" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266003" "04214" "00370665" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266004" "04214" "00370666" "01695" "Unknown" "" "RP and other Retinal degenerations" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa and other retinal degenerations" ""
"0000266005" "04214" "00370667" "01695" "Unknown" "" "CRD" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000266006" "04214" "00370668" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266007" "04214" "00370669" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266008" "04214" "00370670" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266009" "04214" "00370671" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266010" "04214" "00370672" "01695" "Unknown" "" "RP and other Retinal degenerations" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa and other retinal degenerations" ""
"0000266011" "04214" "00370673" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266012" "04214" "00370674" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266013" "04214" "00370675" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266014" "04214" "00370676" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266015" "04214" "00370677" "01695" "Unknown" "" "CRD" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000266016" "04214" "00370678" "01695" "Unknown" "" "RP and other Retinal degenerations" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa and other retinal degenerations" ""
"0000266017" "04214" "00370679" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266018" "04214" "00370680" "01695" "Unknown" "" "RP and other Retinal degenerations" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa and other retinal degenerations" ""
"0000266019" "04214" "00370681" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266020" "04214" "00370682" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266021" "04214" "00370683" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266022" "04214" "00370684" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266023" "04214" "00370685" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266024" "04214" "00370686" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266025" "04214" "00370687" "01695" "Unknown" "" "CRD" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000266026" "04214" "00370688" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266027" "04214" "00370689" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266028" "04214" "00370690" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266029" "04214" "00370691" "01695" "Unknown" "" "RP and other Retinal degenerations" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa and other retinal degenerations" ""
"0000266030" "04214" "00370692" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266031" "04214" "00370693" "01695" "Unknown" "" "CRD" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000266032" "04214" "00370694" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266033" "04214" "00370695" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266034" "04214" "00370696" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266035" "04214" "00370697" "01695" "Unknown" "" "RP and other Retinal degenerations" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa and other retinal degenerations" ""
"0000266036" "04214" "00370698" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266037" "04214" "00370699" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266038" "04214" "00370700" "01695" "Unknown" "" "CRD" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000266039" "04214" "00370701" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266040" "04214" "00370702" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266041" "04214" "00370703" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266042" "04214" "00370704" "01695" "Unknown" "" "CRD" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000266043" "04214" "00370705" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266044" "04214" "00370706" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266045" "04214" "00370707" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266046" "04214" "00370708" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266047" "04214" "00370709" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266048" "04214" "00370710" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266049" "04214" "00370711" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266050" "04214" "00370712" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266051" "04214" "00370713" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266052" "04214" "00370714" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266053" "04214" "00370715" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266054" "04214" "00370716" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266055" "04214" "00370717" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266056" "04214" "00370718" "01695" "Unknown" "" "CRD" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000266057" "04214" "00370719" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266058" "04214" "00370720" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266059" "04214" "00370721" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266060" "04214" "00370722" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266061" "04214" "00370723" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266062" "04214" "00370724" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266063" "04214" "00370725" "01695" "Unknown" "" "Pattern Dystrophy and Adult onset Foveomacular Dystrophy" "" "" "unknown" "" "" "" "" "" "" "pattern dystrophy and adult onset foveomacular dystrophy" ""
"0000266064" "04214" "00370726" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266065" "04214" "00370727" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266066" "04214" "00370728" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266067" "04214" "00370729" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266068" "04214" "00370730" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266069" "04214" "00370731" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266070" "04214" "00370732" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266071" "04214" "00370733" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266072" "04214" "00370734" "01695" "Unknown" "" "RP and other Retinal degenerations" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa and other retinal degenerations" ""
"0000266073" "04214" "00370735" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266074" "04214" "00370736" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266075" "04214" "00370737" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266076" "04214" "00370738" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266077" "04214" "00370739" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266078" "04214" "00370740" "01695" "Unknown" "" "RP and other Retinal degenerations" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa and other retinal degenerations" ""
"0000266079" "04214" "00370741" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266080" "04214" "00370742" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266081" "04214" "00370743" "01695" "Unknown" "" "CRD" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000266082" "04214" "00370744" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266083" "04214" "00370745" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266084" "04214" "00370746" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266085" "04214" "00370747" "01695" "Unknown" "" "RP and other Retinal degenerations" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa and other retinal degenerations" ""
"0000266086" "04214" "00370748" "01695" "Unknown" "" "RP and other Retinal degenerations" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa and other retinal degenerations" ""
"0000266087" "04214" "00370749" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266088" "04214" "00370750" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266089" "04214" "00370751" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266090" "04214" "00370752" "01695" "Unknown" "" "RP and other Retinal degenerations" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa and other retinal degenerations" ""
"0000266091" "04214" "00370753" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266092" "04214" "00370754" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266093" "04214" "00370755" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266094" "04214" "00370756" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266095" "04214" "00370757" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266096" "04214" "00370758" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266097" "04214" "00370759" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266098" "04214" "00370760" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266099" "04214" "00370761" "01695" "Unknown" "" "CRD" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000266100" "04214" "00370762" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266101" "04214" "00370763" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266102" "04214" "00370764" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266103" "04214" "00370765" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266104" "04214" "00370766" "01695" "Unknown" "" "CRD" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000266105" "04214" "00370767" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266106" "04214" "00370768" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266107" "04214" "00370769" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266108" "04214" "00370770" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266109" "04214" "00370771" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266110" "04214" "00370772" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266111" "04214" "00370773" "01695" "Unknown" "" "RP and other Retinal degenerations" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa and other retinal degenerations" ""
"0000266112" "04214" "00370774" "01695" "Unknown" "" "CRD" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000266113" "04214" "00370775" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266114" "04214" "00370776" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266115" "04214" "00370777" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266116" "04214" "00370778" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266117" "04214" "00370779" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266118" "04214" "00370780" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266119" "04214" "00370781" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266120" "04214" "00370782" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266121" "04214" "00370783" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266122" "04214" "00370784" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266123" "04214" "00370785" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266124" "04214" "00370786" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266125" "04214" "00370787" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266126" "04214" "00370788" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266127" "04214" "00370789" "01695" "Unknown" "" "RP and other Retinal degenerations" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa and other retinal degenerations" ""
"0000266128" "04214" "00370790" "01695" "Unknown" "" "BEST Disease" "" "" "unknown" "" "" "" "" "" "" "BEST disease" ""
"0000266129" "04214" "00370791" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266130" "04214" "00370792" "01695" "Unknown" "" "RP and other Retinal degenerations" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa and other retinal degenerations" ""
"0000266131" "04214" "00370793" "01695" "Unknown" "" "RP and other Retinal degenerations" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa and other retinal degenerations" ""
"0000266132" "04214" "00370794" "01695" "Unknown" "" "RP and other Retinal degenerations" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa and other retinal degenerations" ""
"0000266133" "04214" "00370795" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266134" "04214" "00370796" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266135" "04214" "00370797" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266136" "04214" "00370798" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266137" "04214" "00370799" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266138" "04214" "00370800" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266139" "04214" "00370801" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266140" "04214" "00370802" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266141" "04214" "00370803" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266142" "04214" "00370804" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266143" "04214" "00370805" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266144" "04214" "00370806" "01695" "Unknown" "" "CRD" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000266145" "04214" "00370807" "01695" "Unknown" "" "CRD" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000266146" "04214" "00370808" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266147" "04214" "00370809" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266148" "04214" "00370810" "01695" "Unknown" "" "CRD" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000266149" "04214" "00370811" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266150" "04214" "00370812" "01695" "Unknown" "" "Pattern Dystrophy and Adult onset Foveomacular Dystrophy" "" "" "unknown" "" "" "" "" "" "" "pattern dystrophy and adult onset foveomacular dystrophy" ""
"0000266151" "04214" "00370813" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266152" "04214" "00370814" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266153" "04214" "00370815" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266154" "04214" "00370816" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266155" "04214" "00370817" "01695" "Unknown" "" "RP and other Retinal degenerations" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa and other retinal degenerations" ""
"0000266156" "04214" "00370818" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266157" "04214" "00370819" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266158" "04214" "00370820" "01695" "Unknown" "" "CRD" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000266159" "04214" "00370821" "01695" "Unknown" "" "Pattern Dystrophy and Adult onset Foveomacular Dystrophy" "" "" "unknown" "" "" "" "" "" "" "pattern dystrophy and adult onset foveomacular dystrophy" ""
"0000266160" "04214" "00370822" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266161" "04214" "00370823" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266162" "04214" "00370824" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266163" "04214" "00370825" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266164" "04214" "00370826" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266165" "04214" "00370827" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266166" "04214" "00370828" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266167" "04214" "00370829" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266168" "04214" "00370830" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266169" "04214" "00370831" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266170" "04214" "00370832" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266171" "04214" "00370833" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266172" "04214" "00370834" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266173" "04214" "00370835" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266174" "04214" "00370836" "01695" "Unknown" "" "RP and other Retinal degenerations" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa and other retinal degenerations" ""
"0000266175" "04214" "00370837" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266176" "04214" "00370838" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266177" "04214" "00370839" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266178" "04214" "00370840" "01695" "Unknown" "" "CRD" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000266179" "04214" "00370841" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266180" "04214" "00370842" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266181" "04214" "00370843" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266182" "04214" "00370844" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266183" "04214" "00370845" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266184" "04214" "00370846" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266185" "04214" "00370847" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266186" "04214" "00370848" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266187" "04214" "00370849" "01695" "Unknown" "" "CRD" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000266188" "04214" "00370850" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266189" "04214" "00370851" "01695" "Unknown" "" "RP and other Retinal degenerations" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa and other retinal degenerations" ""
"0000266190" "04214" "00370852" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266191" "04214" "00370853" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266192" "04214" "00370854" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266193" "04214" "00370855" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266194" "04214" "00370856" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266195" "04214" "00370857" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266196" "04214" "00370858" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266197" "04214" "00370859" "01695" "Unknown" "" "CRD" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000266198" "04214" "00370860" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266199" "04214" "00370861" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266200" "04214" "00370862" "01695" "Unknown" "" "RP and other Retinal degenerations" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa and other retinal degenerations" ""
"0000266201" "04214" "00370863" "01695" "Unknown" "" "RP and other Retinal degenerations" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa and other retinal degenerations" ""
"0000266202" "04214" "00370864" "01695" "Unknown" "" "RP and other Retinal degenerations" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa and other retinal degenerations" ""
"0000266203" "04214" "00370865" "01695" "Unknown" "" "Doyne Honeycomb Dystrophy" "" "" "unknown" "" "" "" "" "" "" "Doyne honeycomb dystrophy" ""
"0000266204" "04214" "00370866" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266205" "04214" "00370867" "01695" "Unknown" "" "RP and other Retinal degenerations" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa and other retinal degenerations" ""
"0000266206" "04214" "00370868" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266207" "04214" "00370869" "01695" "Unknown" "" "Pattern Dystrophy and Adult onset Foveomacular Dystrophy" "" "" "unknown" "" "" "" "" "" "" "pattern dystrophy and adult onset foveomacular dystrophy" ""
"0000266208" "04214" "00370870" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266209" "04214" "00370871" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266210" "04214" "00370872" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266211" "04214" "00370873" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266212" "04214" "00370874" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266213" "04214" "00370875" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266214" "04214" "00370876" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266215" "04214" "00370877" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266216" "04214" "00370878" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266217" "04214" "00370879" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266218" "04214" "00370880" "01695" "Unknown" "" "CRD" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000266219" "04214" "00370881" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266220" "04214" "00370882" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266221" "04214" "00370883" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266222" "04214" "00370884" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266223" "04214" "00370885" "01695" "Unknown" "" "RP and other Retinal degenerations" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa and other retinal degenerations" ""
"0000266224" "04214" "00370886" "01695" "Unknown" "" "CRD" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000266225" "04214" "00370887" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266226" "04214" "00370888" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266227" "04214" "00370889" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266228" "04214" "00370890" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266229" "04214" "00370891" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266230" "04214" "00370892" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266231" "04214" "00370893" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266232" "04214" "00370894" "01695" "Unknown" "" "RP and other Retinal degenerations" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa and other retinal degenerations" ""
"0000266233" "04214" "00370895" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266234" "04214" "00370896" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266235" "04214" "00370897" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266236" "04214" "00370898" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266237" "04214" "00370899" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266238" "04214" "00370900" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266239" "04214" "00370901" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266240" "04214" "00370902" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266241" "04214" "00370903" "01695" "Unknown" "" "RP and other Retinal degenerations" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa and other retinal degenerations" ""
"0000266242" "04214" "00370904" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266243" "04214" "00370905" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266244" "04214" "00370906" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266245" "04214" "00370907" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266246" "04214" "00370908" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266247" "04214" "00370909" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266248" "04214" "00370910" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266249" "04214" "00370911" "01695" "Unknown" "" "RP and other Retinal degenerations" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa and other retinal degenerations" ""
"0000266250" "04214" "00370912" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266251" "04214" "00370913" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266252" "04214" "00370914" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266253" "04214" "00370915" "01695" "Unknown" "" "RP and other Retinal degenerations" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa and other retinal degenerations" ""
"0000266254" "04214" "00370916" "01695" "Unknown" "" "CRD" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000266255" "04214" "00370917" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266256" "04214" "00370918" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266257" "04214" "00370919" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266258" "04214" "00370920" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266259" "04214" "00370921" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266260" "04214" "00370922" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266261" "04214" "00370923" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266262" "04214" "00370924" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266263" "04214" "00370925" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266264" "04214" "00370926" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266265" "04214" "00370927" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266266" "04214" "00370928" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266267" "04214" "00370929" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266268" "04214" "00370930" "01695" "Unknown" "" "RP and other Retinal degenerations" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa and other retinal degenerations" ""
"0000266269" "04214" "00370931" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266270" "04214" "00370932" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266271" "04214" "00370933" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266272" "04214" "00370934" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266273" "04214" "00370935" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266274" "04214" "00370936" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266275" "04214" "00370937" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266276" "04214" "00370938" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266277" "04214" "00370939" "01695" "Unknown" "" "RP and other Retinal degenerations" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa and other retinal degenerations" ""
"0000266278" "04214" "00370940" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266279" "04214" "00370941" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266280" "04214" "00370942" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266281" "04214" "00370943" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266282" "04214" "00370944" "01695" "Unknown" "" "CRD" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000266283" "04214" "00370945" "01695" "Unknown" "" "Pattern Dystrophy and Adult onset Foveomacular Dystrophy" "" "" "unknown" "" "" "" "" "" "" "pattern dystrophy and adult onset foveomacular dystrophy" ""
"0000266284" "04214" "00370946" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266285" "04214" "00370947" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266286" "04214" "00370948" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266287" "04214" "00370949" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266288" "04214" "00370950" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266289" "04214" "00370951" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266290" "04214" "00370952" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266291" "04214" "00370953" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266292" "04214" "00370954" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266293" "04214" "00370955" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266294" "04214" "00370956" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266295" "04214" "00370957" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266296" "04214" "00370958" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266297" "04214" "00370959" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266298" "04214" "00370960" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266299" "04214" "00370961" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266300" "04214" "00370962" "01695" "Unknown" "" "CRD" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000266301" "04214" "00370963" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266302" "04214" "00370964" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266303" "04214" "00370965" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266304" "04214" "00370966" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266305" "04214" "00370967" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266306" "04214" "00370968" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266307" "04214" "00370969" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266308" "04214" "00370970" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266309" "04214" "00370971" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266310" "04214" "00370972" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266311" "04214" "00370973" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266312" "04214" "00370974" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266313" "04214" "00370975" "01695" "Unknown" "" "Pattern Dystrophy and Adult onset Foveomacular Dystrophy" "" "" "unknown" "" "" "" "" "" "" "pattern dystrophy and adult onset foveomacular dystrophy" ""
"0000266314" "04214" "00370976" "01695" "Unknown" "" "RP and other Retinal degenerations" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa and other retinal degenerations" ""
"0000266315" "04214" "00370977" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266316" "04214" "00370978" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266317" "04214" "00370979" "01695" "Unknown" "" "RP and other Retinal degenerations" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa and other retinal degenerations" ""
"0000266318" "04214" "00370980" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266319" "04214" "00370981" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266320" "04214" "00370982" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266321" "04214" "00370983" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266322" "04214" "00370984" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266323" "04214" "00370985" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266324" "04214" "00370986" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266325" "04214" "00370987" "01695" "Unknown" "" "CRD" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000266326" "04214" "00370988" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266327" "04214" "00370989" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266328" "04214" "00370990" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266329" "04214" "00370991" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266330" "04214" "00370992" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266331" "04214" "00370993" "01695" "Unknown" "" "RP and other Retinal degenerations" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa and other retinal degenerations" ""
"0000266332" "04214" "00370994" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266333" "04214" "00370995" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266334" "04214" "00370996" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266335" "04214" "00370997" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266336" "04214" "00370998" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266337" "04214" "00370999" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266338" "04214" "00371000" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266339" "04214" "00371001" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266340" "04214" "00371002" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266341" "04214" "00371003" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266342" "04214" "00371004" "01695" "Unknown" "" "Pattern Dystrophy and Adult onset Foveomacular Dystrophy" "" "" "unknown" "" "" "" "" "" "" "pattern dystrophy and adult onset foveomacular dystrophy" ""
"0000266343" "04214" "00371005" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266344" "04214" "00371006" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266345" "04214" "00371007" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266346" "04214" "00371008" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266347" "04214" "00371009" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266348" "04214" "00371010" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266349" "04214" "00371011" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266350" "04214" "00371012" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266351" "04214" "00371013" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266352" "04214" "00371014" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266353" "04214" "00371015" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266354" "04214" "00371016" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266355" "04214" "00371017" "01695" "Unknown" "" "CRD" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000266356" "04214" "00371018" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266357" "04214" "00371019" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266358" "04214" "00371020" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266359" "04214" "00371021" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266360" "04214" "00371022" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266361" "04214" "00371023" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266362" "04214" "00371024" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266363" "04214" "00371025" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266364" "04214" "00371026" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266365" "04214" "00371027" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266366" "04214" "00371028" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266367" "04214" "00371029" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266368" "04214" "00371030" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266369" "04214" "00371031" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266370" "04214" "00371032" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266371" "04214" "00371033" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266372" "04214" "00371034" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266373" "04214" "00371035" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266374" "04214" "00371036" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266375" "04214" "00371037" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266376" "04214" "00371038" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266377" "04214" "00371039" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266378" "04214" "00371040" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266379" "04214" "00371041" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266380" "04214" "00371042" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266381" "04214" "00371043" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266382" "04214" "00371044" "01695" "Unknown" "" "CRD" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000266383" "04214" "00371045" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266384" "04214" "00371046" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266385" "04214" "00371047" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266386" "04214" "00371048" "01695" "Unknown" "" "CRD" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000266387" "04214" "00371049" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266388" "04214" "00371050" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266389" "04214" "00371051" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266390" "04214" "00371052" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266391" "04214" "00371053" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266392" "04214" "00371054" "01695" "Unknown" "" "RP and other Retinal degenerations" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa and other retinal degenerations" ""
"0000266393" "04214" "00371055" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266394" "04214" "00371056" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266395" "04214" "00371057" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266396" "04214" "00371058" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266397" "04214" "00371059" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266398" "04214" "00371060" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266399" "04214" "00371061" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266400" "04214" "00371062" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266401" "04214" "00371063" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266402" "04214" "00371064" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266403" "04214" "00371065" "01695" "Unknown" "" "CRD" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000266404" "04214" "00371066" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266405" "04214" "00371067" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266406" "04214" "00371068" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266407" "04214" "00371069" "01695" "Unknown" "" "RP and other Retinal degenerations" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa and other retinal degenerations" ""
"0000266408" "04214" "00371070" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266409" "04214" "00371071" "01695" "Unknown" "" "RP and other Retinal degenerations" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa and other retinal degenerations" ""
"0000266410" "04214" "00371072" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266411" "04214" "00371073" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266412" "04214" "00371074" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266413" "04214" "00371075" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266414" "04214" "00371076" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266415" "04214" "00371077" "01695" "Unknown" "" "Pattern Dystrophy and Adult onset Foveomacular Dystrophy" "" "" "unknown" "" "" "" "" "" "" "pattern dystrophy and adult onset foveomacular dystrophy" ""
"0000266416" "04214" "00371078" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266417" "04214" "00371079" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266418" "04214" "00371080" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266419" "04214" "00371081" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266420" "04214" "00371082" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266421" "04214" "00371083" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266422" "04214" "00371084" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266423" "04214" "00371085" "01695" "Unknown" "" "Pattern Dystrophy and Adult onset Foveomacular Dystrophy" "" "" "unknown" "" "" "" "" "" "" "pattern dystrophy and adult onset foveomacular dystrophy" ""
"0000266424" "04214" "00371086" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266425" "04214" "00371087" "01695" "Unknown" "" "RP and other Retinal degenerations" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa and other retinal degenerations" ""
"0000266426" "04214" "00371088" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266427" "04214" "00371089" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266428" "04214" "00371090" "01695" "Unknown" "" "RP and other Retinal degenerations" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa and other retinal degenerations" ""
"0000266429" "04214" "00371091" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266430" "04214" "00371092" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266431" "04214" "00371093" "01695" "Unknown" "" "CRD" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000266432" "04214" "00371094" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266433" "04214" "00371095" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266434" "04214" "00371096" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266435" "04214" "00371097" "01695" "Unknown" "" "RP and other Retinal degenerations" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa and other retinal degenerations" ""
"0000266436" "04214" "00371098" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266437" "04214" "00371099" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266438" "04214" "00371100" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266439" "04214" "00371101" "01695" "Unknown" "" "CRD" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000266440" "04214" "00371102" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266441" "04214" "00371103" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266442" "04214" "00371104" "01695" "Unknown" "" "Pattern Dystrophy and Adult onset Foveomacular Dystrophy" "" "" "unknown" "" "" "" "" "" "" "pattern dystrophy and adult onset foveomacular dystrophy" ""
"0000266443" "04214" "00371105" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266444" "04214" "00371106" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266445" "04214" "00371107" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266446" "04214" "00371108" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266447" "04214" "00371109" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266448" "04214" "00371110" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266449" "04214" "00371111" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266450" "04214" "00371112" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266451" "04214" "00371113" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266452" "04214" "00371114" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266453" "04214" "00371115" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266454" "04214" "00371116" "01695" "Unknown" "" "CRD" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000266455" "04214" "00371117" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266456" "04214" "00371118" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266457" "04214" "00371119" "01695" "Unknown" "" "Pattern Dystrophy and Adult onset Foveomacular Dystrophy" "" "" "unknown" "" "" "" "" "" "" "pattern dystrophy and adult onset foveomacular dystrophy" ""
"0000266458" "04214" "00371120" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266459" "04214" "00371121" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266460" "04214" "00371122" "01695" "Unknown" "" "CRD" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000266461" "04214" "00371123" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266462" "04214" "00371124" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266463" "04214" "00371125" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266464" "04214" "00371126" "01695" "Unknown" "" "RP and other Retinal degenerations" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa and other retinal degenerations" ""
"0000266465" "04214" "00371127" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266466" "04214" "00371128" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266467" "04214" "00371129" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266468" "04214" "00371130" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266469" "04214" "00371131" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266470" "04214" "00371132" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266471" "04214" "00371133" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266472" "04214" "00371134" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266473" "04214" "00371135" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266474" "04214" "00371136" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266475" "04214" "00371137" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266476" "04214" "00371138" "01695" "Unknown" "" "RP and other Retinal degenerations" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa and other retinal degenerations" ""
"0000266477" "04214" "00371139" "01695" "Unknown" "" "RP and other Retinal degenerations" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa and other retinal degenerations" ""
"0000266478" "04214" "00371140" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266479" "04214" "00371141" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266480" "04214" "00371142" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266481" "04214" "00371143" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266482" "04214" "00371144" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266483" "04214" "00371145" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266484" "04214" "00371146" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266485" "04214" "00371147" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266486" "04214" "00371148" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266487" "04214" "00371149" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266488" "04214" "00371150" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266489" "04214" "00371151" "01695" "Unknown" "" "CRD" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000266490" "04214" "00371152" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266491" "04214" "00371153" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266492" "04214" "00371154" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266493" "04214" "00371155" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266494" "04214" "00371156" "01695" "Unknown" "" "Pattern Dystrophy and Adult onset Foveomacular Dystrophy" "" "" "unknown" "" "" "" "" "" "" "pattern dystrophy and adult onset foveomacular dystrophy" ""
"0000266495" "04214" "00371157" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266496" "04214" "00371158" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266497" "04214" "00371159" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266498" "04214" "00371160" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266499" "04214" "00371161" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266500" "04214" "00371162" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266501" "04214" "00371163" "01695" "Unknown" "" "RP and other Retinal degenerations" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa and other retinal degenerations" ""
"0000266502" "04214" "00371164" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266503" "04214" "00371165" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266504" "04214" "00371166" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266505" "04214" "00371167" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266506" "04214" "00371168" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266507" "04214" "00371169" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266508" "04214" "00371170" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266509" "04214" "00371171" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266510" "04214" "00371172" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266511" "04214" "00371173" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266512" "04214" "00371174" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266513" "04214" "00371175" "01695" "Unknown" "" "CRD" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000266514" "04214" "00371176" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266515" "04214" "00371177" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266516" "04214" "00371178" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266517" "04214" "00371179" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266518" "04214" "00371180" "01695" "Unknown" "" "RP and other Retinal degenerations" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa and other retinal degenerations" ""
"0000266519" "04214" "00371181" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266520" "04214" "00371182" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266521" "04214" "00371183" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266522" "04214" "00371184" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266523" "04214" "00371185" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266524" "04214" "00371186" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266525" "04214" "00371187" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266526" "04214" "00371188" "01695" "Unknown" "" "CRD" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000266527" "04214" "00371189" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266528" "04214" "00371190" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266529" "04214" "00371191" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266530" "04214" "00371192" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266531" "04214" "00371193" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266532" "04214" "00371194" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266533" "04214" "00371195" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266534" "04214" "00371196" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266535" "04214" "00371197" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266536" "04214" "00371198" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266537" "04214" "00371199" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266538" "04214" "00371200" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266539" "04214" "00371201" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266540" "04214" "00371202" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266541" "04214" "00371203" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266542" "04214" "00371204" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266543" "04214" "00371205" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266544" "04214" "00371206" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266545" "04214" "00371207" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266546" "04214" "00371208" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266547" "04214" "00371209" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266548" "04214" "00371210" "01695" "Unknown" "" "CRD" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000266549" "04214" "00371211" "01695" "Unknown" "" "RP and other Retinal degenerations" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa and other retinal degenerations" ""
"0000266550" "04214" "00371212" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266551" "04214" "00371213" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266552" "04214" "00371214" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266553" "04214" "00371215" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266554" "04214" "00371216" "01695" "Unknown" "" "RP and other Retinal degenerations" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa and other retinal degenerations" ""
"0000266555" "04214" "00371217" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266556" "04214" "00371218" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266557" "04214" "00371219" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266558" "04214" "00371220" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266559" "04214" "00371221" "01695" "Unknown" "" "BEST Disease" "" "" "unknown" "" "" "" "" "" "" "BEST disease" ""
"0000266560" "04214" "00371222" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266561" "04214" "00371223" "01695" "Unknown" "" "CRD" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000266562" "04214" "00371224" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266563" "04214" "00371225" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266564" "04214" "00371226" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266565" "04214" "00371227" "01695" "Unknown" "" "RP and other Retinal degenerations" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa and other retinal degenerations" ""
"0000266566" "04214" "00371228" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266567" "04214" "00371229" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266568" "04214" "00371230" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266569" "04214" "00371231" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266570" "04214" "00371232" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266571" "04214" "00371233" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266572" "04214" "00371234" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266573" "04214" "00371235" "01695" "Unknown" "" "RP and other Retinal degenerations" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa and other retinal degenerations" ""
"0000266574" "04214" "00371236" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266575" "04214" "00371237" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266576" "04214" "00371238" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266577" "04214" "00371239" "01695" "Unknown" "" "RP and other Retinal degenerations" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa and other retinal degenerations" ""
"0000266578" "04214" "00371240" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266579" "04214" "00371241" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266580" "04214" "00371242" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266581" "04214" "00371243" "01695" "Unknown" "" "RP and other Retinal degenerations" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa and other retinal degenerations" ""
"0000266582" "04214" "00371244" "01695" "Unknown" "" "Pattern Dystrophy and Adult onset Foveomacular Dystrophy" "" "" "unknown" "" "" "" "" "" "" "pattern dystrophy and adult onset foveomacular dystrophy" ""
"0000266583" "04214" "00371245" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266584" "04214" "00371246" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266585" "04214" "00371247" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266586" "04214" "00371248" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266587" "04214" "00371249" "01695" "Unknown" "" "RP and other Retinal degenerations" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa and other retinal degenerations" ""
"0000266588" "04214" "00371250" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266589" "04214" "00371251" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266590" "04214" "00371252" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266591" "04214" "00371253" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266592" "04214" "00371254" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266593" "04214" "00371255" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266594" "04214" "00371256" "01695" "Unknown" "" "Pattern Dystrophy and Adult onset Foveomacular Dystrophy" "" "" "unknown" "" "" "" "" "" "" "pattern dystrophy and adult onset foveomacular dystrophy" ""
"0000266595" "04214" "00371257" "01695" "Unknown" "" "CRD" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000266596" "04214" "00371258" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266597" "04214" "00371259" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266598" "04214" "00371260" "01695" "Unknown" "" "CRD" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000266599" "04214" "00371261" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266600" "04214" "00371262" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266601" "04214" "00371263" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266602" "04214" "00371264" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266603" "04214" "00371265" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266604" "04214" "00371266" "01695" "Unknown" "" "RP and other Retinal degenerations" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa and other retinal degenerations" ""
"0000266605" "04214" "00371267" "01695" "Unknown" "" "RP and other Retinal degenerations" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa and other retinal degenerations" ""
"0000266606" "04214" "00371268" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266607" "04214" "00371269" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266608" "04214" "00371270" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266609" "04214" "00371271" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266610" "04214" "00371272" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266611" "04214" "00371273" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266612" "04214" "00371274" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266613" "04214" "00371275" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266614" "04214" "00371276" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266615" "04214" "00371277" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266616" "04214" "00371278" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266617" "04214" "00371279" "01695" "Unknown" "" "RP and other Retinal degenerations" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa and other retinal degenerations" ""
"0000266618" "04214" "00371280" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266619" "04214" "00371281" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266620" "04214" "00371282" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266621" "04214" "00371283" "01695" "Unknown" "" "RP and other Retinal degenerations" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa and other retinal degenerations" ""
"0000266622" "04214" "00371284" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266623" "04214" "00371285" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266624" "04214" "00371286" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266625" "04214" "00371287" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266626" "04214" "00371288" "01695" "Unknown" "" "CRD" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000266627" "04214" "00371289" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266628" "04214" "00371290" "01695" "Unknown" "" "CRD" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000266629" "04214" "00371291" "01695" "Unknown" "" "Pattern Dystrophy and Adult onset Foveomacular Dystrophy" "" "" "unknown" "" "" "" "" "" "" "pattern dystrophy and adult onset foveomacular dystrophy" ""
"0000266630" "04214" "00371292" "01695" "Unknown" "" "RP and other Retinal degenerations" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa and other retinal degenerations" ""
"0000266631" "04214" "00371293" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266632" "04214" "00371294" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266633" "04214" "00371295" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266634" "04214" "00371296" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266635" "04214" "00371297" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266636" "04214" "00371298" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266637" "04214" "00371299" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266638" "04214" "00371300" "01695" "Unknown" "" "BEST Disease" "" "" "unknown" "" "" "" "" "" "" "BEST disease" ""
"0000266639" "04214" "00371301" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266640" "04214" "00371302" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266641" "04214" "00371303" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266642" "04214" "00371304" "01695" "Unknown" "" "CRD" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000266643" "04214" "00371305" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266644" "04214" "00371306" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266645" "04214" "00371307" "01695" "Unknown" "" "RP and other Retinal degenerations" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa and other retinal degenerations" ""
"0000266646" "04214" "00371308" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266647" "04214" "00371309" "01695" "Unknown" "" "CRD" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000266648" "04214" "00371310" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266649" "04214" "00371311" "01695" "Unknown" "" "RP and other Retinal degenerations" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa and other retinal degenerations" ""
"0000266650" "04214" "00371312" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266651" "04214" "00371313" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266652" "04214" "00371314" "01695" "Unknown" "" "CRD" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000266653" "04214" "00371315" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266654" "04214" "00371316" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266655" "04214" "00371317" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266656" "04214" "00371318" "01695" "Unknown" "" "RP and other Retinal degenerations" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa and other retinal degenerations" ""
"0000266657" "04214" "00371319" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266658" "04214" "00371320" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266659" "04214" "00371321" "01695" "Unknown" "" "RP and other Retinal degenerations" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa and other retinal degenerations" ""
"0000266660" "04214" "00371322" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266661" "04214" "00371323" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266662" "04214" "00371324" "01695" "Unknown" "" "RP and other Retinal degenerations" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa and other retinal degenerations" ""
"0000266663" "04214" "00371325" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266664" "04214" "00371326" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266665" "04214" "00371327" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266666" "04214" "00371328" "01695" "Unknown" "" "RP and other Retinal degenerations" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa and other retinal degenerations" ""
"0000266667" "04214" "00371329" "01695" "Unknown" "" "RP and other Retinal degenerations" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa and other retinal degenerations" ""
"0000266668" "04214" "00371330" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266669" "04214" "00371331" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266670" "04214" "00371332" "01695" "Unknown" "" "Pattern Dystrophy and Adult onset Foveomacular Dystrophy" "" "" "unknown" "" "" "" "" "" "" "pattern dystrophy and adult onset foveomacular dystrophy" ""
"0000266671" "04214" "00371333" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266672" "04214" "00371334" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266673" "04214" "00371335" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266674" "04214" "00371336" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266675" "04214" "00371337" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266676" "04214" "00371338" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266677" "04214" "00371339" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266678" "04214" "00371340" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266679" "04214" "00371341" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266680" "04214" "00371342" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266681" "04214" "00371343" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266682" "04214" "00371344" "01695" "Unknown" "" "RP and other Retinal degenerations" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa and other retinal degenerations" ""
"0000266683" "04214" "00371345" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266684" "04214" "00371346" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266685" "04214" "00371347" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266686" "04214" "00371348" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266687" "04214" "00371349" "01695" "Unknown" "" "RP and other Retinal degenerations" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa and other retinal degenerations" ""
"0000266688" "04214" "00371350" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266689" "04214" "00371351" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266690" "04214" "00371352" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266691" "04214" "00371353" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266692" "04214" "00371354" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266693" "04214" "00371355" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266694" "04214" "00371356" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266695" "04214" "00371357" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266696" "04214" "00371358" "01695" "Unknown" "" "CRD" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000266697" "04214" "00371359" "01695" "Unknown" "" "Pattern Dystrophy and Adult onset Foveomacular Dystrophy" "" "" "unknown" "" "" "" "" "" "" "pattern dystrophy and adult onset foveomacular dystrophy" ""
"0000266698" "04214" "00371360" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266699" "04214" "00371361" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266700" "04214" "00371362" "01695" "Unknown" "" "CRD" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000266701" "04214" "00371363" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266702" "04214" "00371364" "01695" "Unknown" "" "Pattern Dystrophy and Adult onset Foveomacular Dystrophy" "" "" "unknown" "" "" "" "" "" "" "pattern dystrophy and adult onset foveomacular dystrophy" ""
"0000266703" "04214" "00371365" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266704" "04214" "00371366" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266705" "04214" "00371367" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266706" "04214" "00371368" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266707" "04214" "00371369" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266708" "04214" "00371370" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266709" "04214" "00371371" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266710" "04214" "00371372" "01695" "Unknown" "" "RP and other Retinal degenerations" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa and other retinal degenerations" ""
"0000266711" "04214" "00371373" "01695" "Unknown" "" "CRD" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000266712" "04214" "00371374" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266713" "04214" "00371375" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266714" "04214" "00371376" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266715" "04214" "00371377" "01695" "Unknown" "" "RP and other Retinal degenerations" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa and other retinal degenerations" ""
"0000266716" "04214" "00371378" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266717" "04214" "00371379" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266718" "04214" "00371380" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266719" "04214" "00371381" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266720" "04214" "00371382" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266721" "04214" "00371383" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266722" "04214" "00371384" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266723" "04214" "00371385" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266724" "04214" "00371386" "01695" "Unknown" "" "RP and other Retinal degenerations" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa and other retinal degenerations" ""
"0000266725" "04214" "00371387" "01695" "Unknown" "" "Pattern Dystrophy and Adult onset Foveomacular Dystrophy" "" "" "unknown" "" "" "" "" "" "" "pattern dystrophy and adult onset foveomacular dystrophy" ""
"0000266726" "04214" "00371388" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266727" "04214" "00371389" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266728" "04214" "00371390" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266729" "04214" "00371391" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266730" "04214" "00371392" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266731" "04214" "00371393" "01695" "Unknown" "" "Pattern Dystrophy and Adult onset Foveomacular Dystrophy" "" "" "unknown" "" "" "" "" "" "" "pattern dystrophy and adult onset foveomacular dystrophy" ""
"0000266732" "04214" "00371394" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266733" "04214" "00371395" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266734" "04214" "00371396" "01695" "Unknown" "" "CRD" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000266735" "04214" "00371397" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266736" "04214" "00371398" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266737" "04214" "00371399" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266738" "04214" "00371400" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266739" "04214" "00371401" "01695" "Unknown" "" "RP and other Retinal degenerations" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa and other retinal degenerations" ""
"0000266740" "04214" "00371402" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266741" "04214" "00371403" "01695" "Unknown" "" "RP and other Retinal degenerations" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa and other retinal degenerations" ""
"0000266742" "04214" "00371404" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266743" "04214" "00371405" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266744" "04214" "00371406" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266745" "04214" "00371407" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266746" "04214" "00371408" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266747" "04214" "00371409" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266748" "04214" "00371410" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266749" "04214" "00371411" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266750" "04214" "00371412" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266751" "04214" "00371413" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266752" "04214" "00371414" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266753" "04214" "00371415" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266754" "04214" "00371416" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266755" "04214" "00371417" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266756" "04214" "00371418" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266757" "04214" "00371419" "01695" "Unknown" "" "RP and other Retinal degenerations" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa and other retinal degenerations" ""
"0000266758" "04214" "00371420" "01695" "Unknown" "" "CRD" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000266759" "04214" "00371421" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266760" "04214" "00371422" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266761" "04214" "00371423" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266762" "04214" "00371424" "01695" "Unknown" "" "RP and other Retinal degenerations" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa and other retinal degenerations" ""
"0000266763" "04214" "00371425" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266764" "04214" "00371426" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266765" "04214" "00371427" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266766" "04214" "00371428" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266767" "04214" "00371429" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266768" "04214" "00371430" "01695" "Unknown" "" "CRD" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000266769" "04214" "00371431" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266770" "04214" "00371432" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266771" "04214" "00371433" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266772" "04214" "00371434" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266773" "04214" "00371435" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266774" "04214" "00371436" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266775" "04214" "00371437" "01695" "Unknown" "" "RP and other Retinal degenerations" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa and other retinal degenerations" ""
"0000266776" "04214" "00371438" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266777" "04214" "00371439" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266778" "04214" "00371440" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266779" "04214" "00371441" "01695" "Unknown" "" "RP and other Retinal degenerations" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa and other retinal degenerations" ""
"0000266780" "04214" "00371442" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266781" "04214" "00371443" "01695" "Unknown" "" "CRD" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000266782" "04214" "00371444" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266783" "04214" "00371445" "01695" "Unknown" "" "RP and other Retinal degenerations" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa and other retinal degenerations" ""
"0000266784" "04214" "00371446" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266785" "04214" "00371447" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266786" "04214" "00371448" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266787" "04214" "00371449" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266788" "04214" "00371450" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266789" "04214" "00371451" "01695" "Unknown" "" "BEST Disease" "" "" "unknown" "" "" "" "" "" "" "BEST disease" ""
"0000266790" "04214" "00371452" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266791" "04214" "00371453" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266792" "04214" "00371454" "01695" "Unknown" "" "RP and other Retinal degenerations" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa and other retinal degenerations" ""
"0000266793" "04214" "00371455" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266794" "04214" "00371456" "01695" "Unknown" "" "FEVR" "" "" "unknown" "" "" "" "" "" "" "FEVR" ""
"0000266795" "04214" "00371457" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266796" "04214" "00371458" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266797" "04214" "00371459" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266798" "04214" "00371460" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266799" "04214" "00371461" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266800" "04214" "00371462" "01695" "Unknown" "" "CRD" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000266801" "04214" "00371463" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266802" "04214" "00371464" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266803" "04214" "00371465" "01695" "Unknown" "" "RP and other Retinal degenerations" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa and other retinal degenerations" ""
"0000266804" "04214" "00371466" "01695" "Unknown" "" "RP and other Retinal degenerations" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa and other retinal degenerations" ""
"0000266805" "04214" "00371467" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266806" "04214" "00371468" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266807" "04214" "00371469" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266808" "04214" "00371470" "01695" "Unknown" "" "CRD" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000266809" "04214" "00371471" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266810" "04214" "00371472" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266811" "04214" "00371473" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266812" "04214" "00371474" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266813" "04214" "00371475" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266814" "04214" "00371476" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266815" "04214" "00371477" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266816" "04214" "00371478" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266817" "04214" "00371479" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266818" "04214" "00371480" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266819" "04214" "00371481" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266820" "04214" "00371482" "01695" "Unknown" "" "RP and other Retinal degenerations" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa and other retinal degenerations" ""
"0000266821" "04214" "00371483" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266822" "04214" "00371484" "01695" "Unknown" "" "CRD" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000266823" "04214" "00371485" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266824" "04214" "00371486" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266825" "04214" "00371487" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266826" "04214" "00371488" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266827" "04214" "00371489" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266828" "04214" "00371490" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266829" "04214" "00371491" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266830" "04214" "00371492" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266831" "04214" "00371493" "01695" "Unknown" "" "RP and other Retinal degenerations" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa and other retinal degenerations" ""
"0000266832" "04214" "00371494" "01695" "Unknown" "" "RP and other Retinal degenerations" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa and other retinal degenerations" ""
"0000266833" "04214" "00371495" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266834" "04214" "00371496" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266835" "04214" "00371497" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266836" "04214" "00371498" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266837" "04214" "00371499" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266838" "04214" "00371500" "01695" "Unknown" "" "CRD" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000266839" "04214" "00371501" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266840" "04214" "00371502" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266841" "04214" "00371503" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266842" "04214" "00371504" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266843" "04214" "00371505" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266844" "04214" "00371506" "01695" "Unknown" "" "CRD" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000266845" "04214" "00371507" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266846" "04214" "00371508" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266847" "04214" "00371509" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266848" "04214" "00371510" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266849" "04214" "00371511" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266850" "04214" "00371512" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266851" "04214" "00371513" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266852" "04214" "00371514" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266853" "04214" "00371515" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266854" "04214" "00371516" "01695" "Unknown" "" "RP and other Retinal degenerations" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa and other retinal degenerations" ""
"0000266855" "04214" "00371517" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266856" "04214" "00371518" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266857" "04214" "00371519" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266858" "04214" "00371520" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266859" "04214" "00371521" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266860" "04214" "00371522" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266861" "04214" "00371523" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266862" "04214" "00371524" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266863" "04214" "00371525" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266864" "04214" "00371526" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266865" "04214" "00371527" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266866" "04214" "00371528" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266867" "04214" "00371529" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266868" "04214" "00371530" "01695" "Unknown" "" "Pattern Dystrophy and Adult onset Foveomacular Dystrophy" "" "" "unknown" "" "" "" "" "" "" "pattern dystrophy and adult onset foveomacular dystrophy" ""
"0000266869" "04214" "00371531" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266870" "04214" "00371532" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266871" "04214" "00371533" "01695" "Unknown" "" "CRD" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000266872" "04214" "00371534" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266873" "04214" "00371535" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266874" "04214" "00371536" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266875" "04214" "00371537" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266876" "04214" "00371538" "01695" "Unknown" "" "CRD" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000266877" "04214" "00371539" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266878" "04214" "00371540" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266879" "04214" "00371541" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266880" "04214" "00371542" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266881" "04214" "00371543" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266882" "04214" "00371544" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266883" "04214" "00371545" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266884" "04214" "00371546" "01695" "Unknown" "" "RP and other Retinal degenerations" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa and other retinal degenerations" ""
"0000266885" "04214" "00371547" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266886" "04214" "00371548" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266887" "04214" "00371549" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266888" "04214" "00371550" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266889" "04214" "00371551" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266890" "04214" "00371552" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266891" "04214" "00371553" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266892" "04214" "00371554" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266893" "04214" "00371555" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266894" "04214" "00371556" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266895" "04214" "00371557" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266896" "04214" "00371558" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266897" "04214" "00371559" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266898" "04214" "00371560" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266899" "04214" "00371561" "01695" "Unknown" "" "CRD" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000266900" "04214" "00371562" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266901" "04214" "00371563" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266902" "04214" "00371564" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266903" "04214" "00371565" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266904" "04214" "00371566" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266905" "04214" "00371567" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266906" "04214" "00371568" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266907" "04214" "00371569" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266908" "04214" "00371570" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266909" "04214" "00371571" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266910" "04214" "00371572" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266911" "04214" "00371573" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266912" "04214" "00371574" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266913" "04214" "00371575" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266914" "04214" "00371576" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266915" "04214" "00371577" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266916" "04214" "00371578" "01695" "Unknown" "" "CRD" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000266917" "04214" "00371579" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266918" "04214" "00371580" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266919" "04214" "00371581" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266920" "04214" "00371582" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266921" "04214" "00371583" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266922" "04214" "00371584" "01695" "Unknown" "" "CRD" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000266923" "04214" "00371585" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266924" "04214" "00371586" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266925" "04214" "00371587" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266926" "04214" "00371588" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266927" "04214" "00371589" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266928" "04214" "00371590" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266929" "04214" "00371591" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266930" "04214" "00371592" "01695" "Unknown" "" "RP and other Retinal degenerations" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa and other retinal degenerations" ""
"0000266931" "04214" "00371593" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266932" "04214" "00371594" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266933" "04214" "00371595" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266934" "04214" "00371596" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266935" "04214" "00371597" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266936" "04214" "00371598" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266937" "04214" "00371599" "01695" "Unknown" "" "CRD" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000266938" "04214" "00371600" "01695" "Unknown" "" "CRD" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000266939" "04214" "00371601" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266940" "04214" "00371602" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266941" "04214" "00371603" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266942" "04214" "00371604" "01695" "Unknown" "" "RP and other Retinal degenerations" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa and other retinal degenerations" ""
"0000266943" "04214" "00371605" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266944" "04214" "00371606" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266945" "04214" "00371607" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266946" "04214" "00371608" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266947" "04214" "00371609" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266948" "04214" "00371610" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266949" "04214" "00371611" "01695" "Unknown" "" "Pattern Dystrophy and Adult onset Foveomacular Dystrophy" "" "" "unknown" "" "" "" "" "" "" "pattern dystrophy and adult onset foveomacular dystrophy" ""
"0000266950" "04214" "00371612" "01695" "Unknown" "" "Pattern Dystrophy and Adult onset Foveomacular Dystrophy" "" "" "unknown" "" "" "" "" "" "" "pattern dystrophy and adult onset foveomacular dystrophy" ""
"0000266951" "04214" "00371613" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266952" "04214" "00371614" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266953" "04214" "00371615" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266954" "04214" "00371616" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266955" "04214" "00371617" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266956" "04214" "00371618" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266957" "04214" "00371619" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266958" "04214" "00371620" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266959" "04214" "00371621" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266960" "04214" "00371622" "01695" "Unknown" "" "RP and other Retinal degenerations" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa and other retinal degenerations" ""
"0000266961" "04214" "00371623" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266962" "04214" "00371624" "01695" "Unknown" "" "CRD" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000266963" "04214" "00371625" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266964" "04214" "00371626" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266965" "04214" "00371627" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266966" "04214" "00371628" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266967" "04214" "00371629" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266968" "04214" "00371630" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266969" "04214" "00371631" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266970" "04214" "00371632" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266971" "04214" "00371633" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266972" "04214" "00371634" "01695" "Unknown" "" "Occult Macular Dystrophy" "" "" "unknown" "" "" "" "" "" "" "occult macular dystrophy" ""
"0000266973" "04214" "00371635" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266974" "04214" "00371636" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266975" "04214" "00371637" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266976" "04214" "00371638" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266977" "04214" "00371639" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266978" "04214" "00371640" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266979" "04214" "00371641" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266980" "04214" "00371642" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266981" "04214" "00371643" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266982" "04214" "00371644" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266983" "04214" "00371645" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266984" "04214" "00371646" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266985" "04214" "00371647" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266986" "04214" "00371648" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266987" "04214" "00371649" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266988" "04214" "00371650" "01695" "Unknown" "" "CRD" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000266989" "04214" "00371651" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266990" "04214" "00371652" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266991" "04214" "00371653" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266992" "04214" "00371654" "01695" "Unknown" "" "CRD" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000266993" "04214" "00371655" "01695" "Unknown" "" "RP and other Retinal degenerations" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa and other retinal degenerations" ""
"0000266994" "04214" "00371656" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266995" "04214" "00371657" "01695" "Unknown" "" "CRD" "" "" "unknown" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000266996" "04214" "00371658" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000266997" "04214" "00371659" "01695" "Unknown" "" "RP and other Retinal degenerations" "" "" "unknown" "" "" "" "" "" "" "retinitis pigmentosa and other retinal degenerations" ""
"0000266998" "04214" "00371660" "01695" "Unknown" "" "STGD1" "" "" "unknown" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000267819" "04214" "00372504" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" ""
"0000267905" "04214" "00372626" "00000" "Familial, autosomal dominant" "34y" "see paper; ..." "<10y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000267921" "04214" "00372642" "00000" "Familial, autosomal dominant" "41y" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000267944" "04214" "00372665" "00000" "Familial, autosomal recessive" "45y" "see paper; ..." "30y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000267945" "04214" "00372666" "00000" "Familial, autosomal recessive" "28y" "see paper; ..." "<10y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000267949" "04214" "00372670" "00000" "Familial, autosomal recessive" "29y" "see paper; ..." "15y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000267964" "04214" "00372685" "00000" "Isolated (sporadic)" "34y" "see paper; ..." "6y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000267970" "04214" "00372691" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000267987" "04214" "00372708" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000267988" "04214" "00372709" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000267989" "04214" "00372710" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000267999" "04214" "00372720" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000268011" "04214" "00372732" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000268017" "04214" "00372738" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000268786" "04214" "00373510" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, macula degeneration" ""
"0000269023" "04214" "00373814" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000269034" "04214" "00373825" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000270630" "04214" "00375416" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000270642" "04214" "00375428" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000270644" "04214" "00375430" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000270646" "04214" "00375432" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000270650" "04214" "00375436" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000271405" "04214" "00376195" "00000" "Unknown" "" "Type Drusen Cuticular, Soft indistinct and Pseudo-vitelliform detachment absent" "54y" "" "" "" "" "" "" "" "" "Pseudo-Vitelliform macular detachment and Cuticular Drusen DMC/CD" ""
"0000271408" "04214" "00376198" "00000" "Unknown" "" "bilateral small pseudo-vitelliform detachments surrounded by soft and cuticular drusen" "83y" "" "" "" "" "" "" "" "" "pseudo-vitelliform macular detachment with cuticular drusen (PVMD/CD)" ""
"0000271518" "04214" "00376310" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000271963" "04214" "00376752" "00000" "Familial, autosomal recessive" "35y" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, loss of peripheral vision" ""
"0000271970" "04214" "00376759" "00000" "Familial, autosomal recessive" "68y" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000271973" "04214" "00376762" "00000" "Familial, autosomal recessive" "21y" "" "" "" "" "" "" "" "" "" "" "Nyctalopia, reduced peripheral vision" ""
"0000271975" "04214" "00376764" "00000" "Familial, autosomal recessive" "9y" "" "" "" "" "" "" "" "" "" "" "Usher syndrome type II" ""
"0000271980" "04214" "00376769" "00000" "Familial, autosomal recessive" "8y" "" "" "" "" "" "" "" "" "" "" "Progressive pigmentary retinopathy" ""
"0000271985" "04214" "00376774" "00000" "Familial, autosomal dominant" "7y" "" "" "" "" "" "" "" "" "" "" "Rod dystrophy" ""
"0000272000" "04214" "00376789" "00000" "Unknown" "38y" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000272003" "04214" "00376792" "00000" "Unknown" "20y" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000272004" "04214" "00376793" "00000" "Unknown" "7y" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000272007" "04214" "00376796" "00000" "Unknown" "67y" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000272236" "04214" "00377045" "00000" "Familial" "24y" "" "" "" "" "" "" "" "" "" "" "Macular distrophy" ""
"0000272349" "04214" "00377191" "00000" "Familial, autosomal recessive" "11y" "see paper" "9y" "9y6m" "" "" "" "" "" "" "Stargardt disease, type 1 (STGD1)" "retinal disease" ""
"0000272380" "04214" "00377222" "00000" "Isolated (sporadic)" "8y" "see paper" "1y" "8y" "" "" "" "" "" "" "" "retinal disease" ""
"0000272418" "04214" "00377260" "00000" "Familial, autosomal recessive" "23y" "see paper" "7y" "22y" "" "" "" "" "" "" "retinitis pigmentosa, type 19 (RP19)" "retinal disease" ""
"0000272684" "04214" "00377534" "00000" "Isolated (sporadic)" "" "see paper" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "retinal disease" ""
"0000272688" "04214" "00377538" "04521" "Isolated (sporadic)" "" "see paper; ..., Leber congenital amaurosis" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000272689" "04214" "00377539" "04521" "Isolated (sporadic)" "" "see paper; ..., Leber congenital amaurosis" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000273074" "04214" "00377928" "00000" "Familial, autosomal recessive" "64y" "" "5y" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" ""
"0000273075" "04214" "00377929" "00000" "Familial, autosomal recessive" "62y" "" "6y" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" ""
"0000273099" "04214" "00377953" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "Stargardt" ""
"0000273105" "04214" "00377959" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Cone distrophy" ""
"0000273106" "04214" "00377960" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Cone distrophy" ""
"0000273107" "04214" "00377961" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Cone distrophy" ""
"0000273108" "04214" "00377962" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Cone distrophy" ""
"0000273110" "04214" "00377964" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Cone distrophy" ""
"0000273111" "04214" "00377965" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Cone distrophy" ""
"0000273112" "04214" "00377966" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Cone distrophy" ""
"0000273113" "04214" "00377967" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Cone distrophy" ""
"0000273114" "04214" "00377968" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Cone distrophy" ""
"0000273115" "04214" "00377969" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Cone distrophy" ""
"0000273116" "04214" "00377970" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Cone distrophy" ""
"0000273117" "04214" "00377971" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Cone distrophy" ""
"0000273118" "04214" "00377972" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Cone distrophy" ""
"0000273119" "04214" "00377973" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Cone distrophy" ""
"0000273120" "04214" "00377974" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Cone distrophy" ""
"0000273122" "04214" "00377976" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Cone distrophy" ""
"0000273123" "04214" "00377977" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Cone distrophy" ""
"0000273124" "04214" "00377978" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Cone distrophy" ""
"0000273125" "04214" "00377979" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Cone distrophy" ""
"0000273126" "04214" "00377980" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Cone distrophy" ""
"0000273127" "04214" "00377981" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Cone distrophy" ""
"0000273128" "04214" "00377982" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Cone distrophy" ""
"0000273156" "00058" "00378010" "03508" "Familial, autosomal recessive" "" "HP:0032122, HP:0001129, HP:0000548" "" "" "" "" "" "" "" "" "" "dystrophy, cone-rod (CORD)" ""
"0000273174" "00058" "00378028" "03508" "Familial, autosomal recessive" "" "HP:0001141, HP:0001129, HP:0000007, HP:0000548" "" "" "" "" "" "" "" "" "" "dystrophy, cone-rod (CORD)" ""
"0000273206" "04215" "00378064" "03508" "Familial, autosomal recessive" "" "HP:0032122, HP:0000662, HP:0001129, HP:0000007" "" "" "" "" "" "" "" "" "" "Stargardt disease (STGD)" ""
"0000273208" "00058" "00378066" "03508" "Familial, autosomal recessive" "" "HP:0032122, HP:0001129, HP:0001288, HP:0000548" "" "" "" "" "" "" "" "" "" "dystrophy, cone-rod (CORD)" ""
"0000273272" "04214" "00379399" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa (RP)" ""
"0000273380" "04214" "00379507" "00000" "Unknown" "10y" "" "" "" "" "" "" "" "" "" "" "Foveal Cavitation" ""
"0000273381" "04214" "00379508" "00000" "Unknown" "16y" "" "" "" "" "" "" "" "" "" "" "Foveal Cavitation" ""
"0000273382" "04214" "00379509" "00000" "Unknown" "15y" "" "" "" "" "" "" "" "" "" "" "Foveal Cavitation" ""
"0000273399" "04214" "00379526" "00000" "Familial, autosomal recessive" "30y" "" "" "" "" "" "" "" "" "" "" "autosomal recessive retinitis pigmentosa" ""
"0000273485" "04215" "00379641" "03508" "Familial, autosomal recessive" "" "HP:0032122,\tHP:0000613,\tHP:0001123,\tHP:0000007,\tHP:0000548" "" "" "" "" "" "" "" "" "" "Stargardt disease (STGD)" ""
"0000273489" "04215" "00379645" "03508" "Familial, autosomal recessive" "" "HP:0032122,\tHP:0001129,\tHP:0000007,\tHP:0000548" "" "" "" "" "" "" "" "" "" "Stargardt disease (STGD)" ""
"0000273505" "00112" "00379661" "03508" "Familial, autosomal recessive" "" "HP:0032122,\tHP:0000662,\tHP:0001133,\tHP:0000007,\tHP:0000510" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa (RP)" ""
"0000273507" "00058" "00379663" "03508" "Familial, autosomal recessive" "" "HP:0032122,\tHP:0001129,\tHP:0000639,\tHP:0000007,\tHP:0000548" "" "" "" "" "" "" "" "" "" "dystrophy, cone-rod (CORD)" ""
"0000273508" "04215" "00379664" "03508" "Familial, autosomal recessive" "" "HP:0030515,\tHP:0001129,\tHP:0000007,\tHP:0000548" "" "" "" "" "" "" "" "" "" "Stargardt disease (STGD)" ""
"0000273513" "04215" "00379669" "03508" "Familial, autosomal recessive" "" "HP:0032122,\tHP:0000662,\tHP:0000613,\tHP:0001129,\tHP:0000007,\tHP:0000548" "" "" "" "" "" "" "" "" "" "Stargardt disease (STGD)" ""
"0000273522" "04215" "00379678" "03508" "Familial, autosomal recessive" "" "HP:0032122,\tHP:0001129,\tHP:0000007,\tHP:0000548" "" "" "" "" "" "" "" "" "" "Stargardt disease (STGD)" ""
"0000273555" "04214" "00379710" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "high myopia" ""
"0000273613" "00112" "00379759" "03508" "Familial, autosomal recessive" "" "HP:0032122,\tHP:0000662,\tHP:0001133,\tHP:0000551,\tHP:0000510" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa (RP)" ""
"0000273624" "04215" "00379770" "03508" "Familial, autosomal recessive" "" "HP:0000662,\tHP:0000613,\tHP:0001129,\tHP:0000551,\tHP:0001288,\tHP:0032122" "" "" "" "" "" "" "" "" "" "Stargardt disease (STGD)" ""
"0000273626" "04215" "00379772" "03508" "Familial, autosomal recessive" "" "HP:0001129,\tHP:0032037,\tHP:0000548" "" "" "" "" "" "" "" "" "" "Stargardt disease (STGD)" ""
"0000273633" "04215" "00379778" "03508" "Familial, autosomal recessive" "" "HP:0032122,\tHP:0000613,\tHP:0001123\t,HP:0000551,\tHP:0000548" "" "" "" "" "" "" "" "" "" "Stargardt disease (STGD)" ""
"0000273659" "04215" "00379804" "03508" "Familial, autosomal recessive" "" "HP:0030515,\tHP:0030515,\tHP:0000548,\tHP:0001129" "" "" "" "" "" "" "" "" "" "Stargardt disease (STGD)" ""
"0000273962" "04214" "00380108" "00000" "Unknown" "35y" "Extensive drusen deposition, mainly located temporal to the fovea and pigmentary alterations" "" "" "" "" "" "" "" "" "" "age-related macular degeneration" ""
"0000273963" "04214" "00380109" "00000" "Unknown" "85y" "Central GA, no evident drusen" "" "" "" "" "" "" "" "" "" "age-related macular degeneration" ""
"0000273964" "04214" "00380110" "00000" "Unknown" "72y" "Small to intermediate hard drusen and pigmentary alterations" "" "" "" "" "" "" "" "" "" "age-related macular degeneration" ""
"0000273965" "04214" "00380111" "00000" "Unknown" "75y" "Multifocal GA with pigmentary alterations and drusen" "" "" "" "" "" "" "" "" "" "age-related macular degeneration" ""
"0000273966" "04214" "00380112" "00000" "Unknown" "78y" "Extensive drusen deposition (some calcified), mainly located temporal to the fovea and central GA" "" "" "" "" "" "" "" "" "" "age-related macular degeneration" ""
"0000273967" "04214" "00380113" "00000" "Unknown" "66y" "Pigmentary alteration with small to intermediate drusen" "" "" "" "" "" "" "" "" "" "age-related macular degeneration" ""
"0000273968" "04214" "00380114" "00000" "Unknown" "73y" "Confluent soft drusen and minimal central GA" "" "" "" "" "" "" "" "" "" "age-related macular degeneration" ""
"0000273969" "04214" "00380115" "00000" "Unknown" "74y" "Intermediate to large soft drusen throughout the macula" "" "" "" "" "" "" "" "" "" "age-related macular degeneration" ""
"0000274010" "00112" "00380155" "03508" "Familial, autosomal recessive" "" "HP:0030515,\tHP:0001133,\tHP:0000510" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa (RP)" ""
"0000274014" "04215" "00380159" "03508" "Familial, autosomal recessive" "" "HP:0001141,\tHP:0001129,\tHP:0001288,\tHP:0000548" "" "" "" "" "" "" "" "" "" "Stargardt disease (STGD)" ""
"0000274015" "04215" "00380160" "03508" "Familial, autosomal recessive" "" "HP:0030515,\tHP:0000662,\tHP:0001129,\tHP:0000551,\tHP:0001288,\tHP:0000548" "" "" "" "" "" "" "" "" "" "Stargardt disease (STGD)" ""
"0000274017" "04215" "00380162" "03508" "Familial, autosomal recessive" "" "HP:0032122,\tHP:0000662,\tHP:0000613,\tHP:0001129,\tHP:0001288,\tHP:0000548" "" "" "" "" "" "" "" "" "" "Stargardt disease (STGD)" ""
"0000274020" "04215" "00380165" "03508" "Familial, autosomal recessive" "" "HP:0032037\tHP:0000613\tHP:0001129\tHP:0000548" "" "" "" "" "" "" "" "" "" "Stargardt disease (STGD)" ""
"0000274035" "04214" "00380180" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy" ""
"0000274049" "04214" "00380194" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy" ""
"0000274189" "04214" "00380338" "00000" "Unknown" ">10y" "Blurred vision; Pigmental proliferation; Gold metal reflex" "" "" "" "" "" "" "" "" "" "Stargardt macular degeneration (STGD)" ""
"0000274190" "04214" "00380339" "00000" "Unknown" "10y" "Blurred vision; Pigmental disorder; Foveal reflex was blunted" "" "" "" "" "" "" "" "" "" "Stargardt macular degeneration (STGD)" ""
"0000274191" "04214" "00380340" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt macular degeneration (STGD)" ""
"0000274217" "04214" "00380366" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000274853" "04214" "00381002" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa (RP)" ""
"0000274935" "04214" "00381084" "00000" "Familial" "43y" "" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" ""
"0000274936" "04214" "00381085" "00000" "Familial" "53y" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000274938" "04214" "00381087" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" ""
"0000274941" "04214" "00381090" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "Stardardt disease" ""
"0000275444" "04214" "00381602" "00000" "Isolated (sporadic)" "" "" "50y" "" "" "" "" "" "" "" "" "Autosomal recessive retinitis pigmentosa, arRP" ""
"0000275446" "04214" "00381604" "00000" "Isolated (sporadic)" "" "" "36y" "" "" "" "" "" "" "" "" "Autosomal recessive retinitis pigmentosa, arRP" ""
"0000275452" "04214" "00381610" "00000" "Isolated (sporadic)" "" "" "37y" "" "" "" "" "" "" "" "" "Autosomal recessive retinitis pigmentosa, arRP" ""
"0000275460" "04214" "00381618" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "Autosomal recessive retinitis pigmentosa, arRP" ""
"0000275471" "04214" "00381629" "00000" "Isolated (sporadic)" "" "" "47y" "" "" "" "" "" "" "" "" "Autosomal recessive retinitis pigmentosa, arRP" ""
"0000275480" "04214" "00381638" "00000" "Isolated (sporadic)" "" "" "15y" "" "" "" "" "" "" "" "" "X-linked RP" ""
"0000275487" "04214" "00381645" "00000" "Isolated (sporadic)" "" "" "34y" "" "" "" "" "" "" "" "" "Autosomal recessive retinitis pigmentosa, arRP" ""
"0000275489" "04214" "00381647" "00000" "Familial, autosomal dominant" "" "" "31y" "" "" "" "" "" "" "" "" "Autosomal dominant RP, adRP" ""
"0000275490" "04214" "00381648" "00000" "Familial, autosomal recessive" "" "" "5y" "" "" "" "" "" "" "" "" "Leber congenital amaurosis (LCA)" ""
"0000275496" "04214" "00381654" "00000" "Familial, autosomal recessive" "" "" "1y" "" "" "" "" "" "" "" "" "Leber congenital amaurosis (LCA)" ""
"0000275497" "04214" "00381655" "00000" "Familial, autosomal dominant" "" "" "59y" "" "" "" "" "" "" "" "" "Autosomal dominant RP, adRP" ""
"0000275502" "04214" "00381660" "00000" "Familial, autosomal dominant" "" "" "55y" "" "" "" "" "" "" "" "" "Autosomal dominant RP, adRP" ""
"0000275509" "04214" "00381667" "00000" "Familial, autosomal recessive" "" "" "7y" "" "" "" "" "" "" "" "" "Leber congenital amaurosis (LCA)" ""
"0000275510" "04214" "00381668" "00000" "Familial, autosomal dominant" "" "" "25y" "" "" "" "" "" "" "" "" "Autosomal dominant RP, adRP" ""
"0000275516" "04214" "00381674" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "Autosomal recessive retinitis pigmentosa, arRP" ""
"0000275519" "04214" "00381677" "00000" "Familial, autosomal recessive" "" "" "11y" "" "" "" "" "" "" "" "" "Autosomal recessive retinitis pigmentosa, arRP" ""
"0000275521" "04214" "00381679" "00000" "Familial, autosomal recessive" "" "" "17y" "" "" "" "" "" "" "" "" "Autosomal recessive retinitis pigmentosa, arRP" ""
"0000275523" "04214" "00381681" "00000" "Isolated (sporadic)" "" "" "27y" "" "" "" "" "" "" "" "" "Autosomal recessive retinitis pigmentosa, arRP" ""
"0000275524" "04214" "00381682" "00000" "Familial, autosomal recessive" "" "" "1y" "" "" "" "" "" "" "" "" "Leber congenital amaurosis (LCA)" ""
"0000275528" "04214" "00381686" "00000" "Familial, autosomal recessive" "" "" "6y" "" "" "" "" "" "" "" "" "Leber congenital amaurosis (LCA)" ""
"0000275529" "04214" "00381687" "00000" "Familial, autosomal recessive" "" "" "10y" "" "" "" "" "" "" "" "" "Leber congenital amaurosis (LCA)" ""
"0000275530" "04214" "00381688" "00000" "Familial, autosomal recessive" "" "" "17y" "" "" "" "" "" "" "" "" "Leber congenital amaurosis (LCA)" ""
"0000275632" "04214" "00381790" "00000" "Familial, autosomal recessive" "12y" "" "10y" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa" ""
"0000275633" "04214" "00381791" "00000" "Familial, autosomal recessive" "36y" "" "9y" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000275634" "04214" "00381792" "00000" "Familial, autosomal recessive" "27y" "" "25y" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa" ""
"0000275735" "04214" "00381893" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000275791" "04214" "00381949" "00000" "Familial, autosomal recessive" "33y" "" "6m" "" "" "" "" "" "" "" "Cone-rod dystrophy" "" ""
"0000275792" "04214" "00381950" "00000" "Familial, autosomal recessive" "47y" "BCVA OD-OS:1/35-1/35; nystagmus; strabismus" "" "" "" "" "" "" "" "" "Cone-rod dystrophy" "" ""
"0000275793" "04214" "00381951" "00000" "Familial, autosomal recessive" "44y" "BCVA OD-OS:light perception; cataract" "0m" "" "" "" "" "" "" "" "Cone-rod dystrophy" "" ""
"0000275794" "04214" "00381952" "00000" "Familial, autosomal recessive" "18y" "BCVA OD-OS:light perception; nystagmus" "" "" "" "" "" "" "" "" "Cone-rod dystrophy" "" ""
"0000276066" "04214" "00382217" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome" ""
"0000276138" "04214" "00382289" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" ""
"0000276144" "04214" "00382295" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" ""
"0000276161" "04214" "00382312" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" ""
"0000276221" "04214" "00382372" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Macular dystrophy unspecified" ""
"0000276222" "04214" "00382373" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" ""
"0000276224" "04214" "00382375" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" ""
"0000276369" "04214" "00382520" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Macular dystrophy unspecified" ""
"0000276387" "04214" "00382538" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" ""
"0000276483" "04214" "00382634" "00000" "Unknown" "2y" "additional consang.; micronystagmus; amblyopia; hypermetropia" "" "" "" "" "" "" "" "" "" "Cone dystrophy" ""
"0000276484" "04214" "00382635" "00000" "Isolated (sporadic)" "40y" "additional cataract" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" ""
"0000276501" "04214" "00382652" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" ""
"0000276502" "04214" "00382653" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" ""
"0000276503" "04214" "00382654" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" ""
"0000276504" "04214" "00382655" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" ""
"0000276505" "04214" "00382656" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" ""
"0000276510" "04214" "00382661" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000276511" "04214" "00382662" "03840" "Familial, autosomal recessive" "34y" "see paper" "7y" "7y" "" "" "" "" "" "" "Stargardt disease, type 1 (STGD1)" "retinal disease" ""
"0000276512" "04214" "00382663" "03840" "Familial, autosomal recessive" "" "see paper" "8y" "8y" "" "" "" "" "" "" "Stargardt disease, type 1 (STGD1)" "retinal disease" ""
"0000276513" "04214" "00382664" "03840" "Familial, autosomal recessive" "29y" "see paper" "7y" "9y" "" "" "" "" "" "" "Stargardt disease, type 1 (STGD1)" "retinal disease" ""
"0000276514" "04214" "00382665" "03840" "Familial, autosomal recessive" "" "see paper" "6y" "8y" "" "" "" "" "" "" "Stargardt disease, type 1 (STGD1)" "retinal disease" ""
"0000276515" "04214" "00382666" "03840" "Familial, autosomal recessive" "" "see paper" "8y" "8y" "" "" "" "" "" "" "Stargardt disease, type 1 (STGD1)" "retinal disease" ""
"0000276516" "04214" "00382667" "03840" "Familial, autosomal recessive" "63y" "see paper" "44y" "62y" "" "" "" "" "" "" "Stargardt disease, type 1 (STGD1)" "retinal disease" ""
"0000276517" "04214" "00382668" "03840" "Familial, autosomal recessive" "45y" "see paper" "14y" "16y" "" "" "" "" "" "" "Stargardt disease, type 1 (STGD1)" "retinal disease" ""
"0000276518" "04214" "00382669" "03840" "Familial, autosomal recessive" "45y" "see paper" "14y" "16y" "" "" "" "" "" "" "macular degeneration, age-related (ARMD)" "retinal disease" ""
"0000276519" "04214" "00382670" "03840" "Familial, autosomal recessive" "28y" "see paper" "7y" "11y" "" "" "" "" "" "" "Stargardt disease, type 1 (STGD1)" "retinal disease" ""
"0000276520" "04214" "00382671" "03840" "Familial, autosomal recessive" "" "see paper" "13y" "13y" "" "" "" "" "" "" "Stargardt disease, type 1 (STGD1)" "retinal disease" ""
"0000276521" "04214" "00382672" "03840" "Familial, autosomal recessive" "33y" "see paper" "30y" "31y" "" "" "" "" "" "" "Stargardt disease, type 1 (STGD1)" "retinal disease" ""
"0000276522" "04214" "00382673" "03840" "Familial, autosomal recessive" "37y" "see paper" "8y" "10y" "" "" "" "" "" "" "Stargardt disease, type 1 (STGD1)" "retinal disease" ""
"0000276523" "04214" "00382674" "03840" "Familial, autosomal recessive" "27y" "see paper" "13y" "23y" "" "" "" "" "" "" "Stargardt disease, type 1 (STGD1)" "retinal disease" ""
"0000276524" "04214" "00382675" "03840" "Familial, autosomal recessive" "8y" "see paper" "7y" "8y" "" "" "" "" "" "" "Stargardt disease, type 1 (STGD1)" "retinal disease" ""
"0000276525" "04214" "00382676" "03840" "Familial, autosomal recessive" "11y" "see paper" "8y6m" "9y" "" "" "" "" "" "" "Stargardt disease, type 1 (STGD1)" "retinal disease" ""
"0000276526" "04214" "00382677" "03840" "Familial, autosomal recessive" "16y" "see paper" "7y" "7y6m" "" "" "" "" "" "" "Stargardt disease, type 1 (STGD1)" "retinal disease" ""
"0000276527" "04214" "00382678" "03840" "Familial, autosomal recessive" "18y" "see paper" "14y" "16y" "" "" "" "" "" "" "Stargardt disease, type 1 (STGD1)" "retinal disease" ""
"0000276528" "04214" "00382679" "03840" "Familial, autosomal recessive" "13y" "see paper" "11y" "12y" "" "" "" "" "" "" "Stargardt disease, type 1 (STGD1)" "retinal disease" ""
"0000276529" "04214" "00382680" "03840" "Familial, autosomal recessive" "16y" "see paper" "10y" "16y" "" "" "" "" "" "" "Stargardt disease, type 1 (STGD1)" "retinal disease" ""
"0000276530" "04214" "00382681" "03840" "Familial, autosomal recessive" "36y" "see paper" "8y" "11y" "" "" "" "" "" "" "retinitis pigmentosa, type 19 (RP19)" "retinal disease" ""
"0000276531" "04214" "00382682" "03840" "Familial, autosomal recessive" "11y" "see paper" "8y" "9y" "" "" "" "" "" "" "Stargardt disease, type 1 (STGD1)" "retinal disease" ""
"0000276532" "04214" "00382683" "03840" "Familial, autosomal recessive" "" "see paper" "" "" "" "" "" "" "" "" "Stargardt disease, type 1 (STGD1)" "retinal disease" ""
"0000276533" "04214" "00382684" "03840" "Familial, autosomal recessive" "12y" "see paper" "8y" "9y" "" "" "" "" "" "" "Stargardt disease, type 1 (STGD1)" "retinal disease" ""
"0000276534" "04214" "00382685" "03840" "Familial, autosomal recessive" "13y" "see paper" "9y" "11y" "" "" "" "" "" "" "Stargardt disease, type 1 (STGD1)" "retinal disease" ""
"0000276535" "04214" "00382686" "03840" "Familial, autosomal recessive" "12y" "see paper" "11y" "11y" "" "" "" "" "" "" "Stargardt disease, type 1 (STGD1)" "retinal disease" ""
"0000276536" "04214" "00382687" "03840" "Familial, autosomal recessive" "30y" "see paper" "8y" "8y6m" "" "" "" "" "" "" "Stargardt disease, type 1 (STGD1)" "retinal disease" ""
"0000276537" "04214" "00382688" "03840" "Familial, autosomal recessive" "14y" "see paper" "12y" "14y" "" "" "" "" "" "" "Stargardt disease, type 1 (STGD1)" "retinal disease" ""
"0000276538" "04214" "00382689" "03840" "Familial, autosomal recessive" "10y" "see paper" "8y" "9y6m" "" "" "" "" "" "" "" "retinal disease" ""
"0000276539" "04214" "00382690" "03840" "Familial, autosomal recessive" "8y" "see paper" "7y6m" "8y" "" "" "" "" "" "" "Stargardt disease, type 1 (STGD1)" "retinal disease" ""
"0000276540" "04214" "00382691" "03840" "Familial, autosomal recessive" "13y" "see paper" "11y6m" "12y" "" "" "" "" "" "" "Stargardt disease, type 1 (STGD1)" "retinal disease" ""
"0000276541" "04214" "00382692" "03840" "Familial, autosomal recessive" "13y" "see paper" "11y" "12y" "" "" "" "" "" "" "Stargardt disease, type 1 (STGD1)" "retinal disease" ""
"0000276542" "04214" "00382693" "03840" "Familial, autosomal recessive" "9y" "see paper" "7y6m" "8y" "" "" "" "" "" "" "Stargardt disease, type 1 (STGD1)" "retinal disease" ""
"0000276543" "04214" "00382694" "03840" "Familial, autosomal recessive" "23y" "see paper" "10y" "11y" "" "" "" "" "" "" "retinitis pigmentosa, type 19 (RP19)" "retinal disease" ""
"0000276544" "04214" "00382695" "03840" "Familial, autosomal recessive" "" "see paper" "" "" "" "" "" "" "" "" "retinitis pigmentosa, type 19 (RP19)" "retinal disease" ""
"0000276545" "04214" "00382696" "03840" "Familial, autosomal recessive" "41y" "see paper" "10y" "12y" "" "" "" "" "" "" "Stargardt disease, type 1 (STGD1)" "retinal disease" ""
"0000276546" "04214" "00382697" "03840" "Familial, autosomal recessive" "" "see paper" "" "" "" "" "" "" "" "" "Stargardt disease, type 1 (STGD1)" "retinal disease" ""
"0000276547" "04214" "00382698" "03840" "Familial, autosomal recessive" "27y" "see paper" "7y" "19y" "" "" "" "" "" "" "Stargardt disease, type 1 (STGD1)" "retinal disease" ""
"0000276548" "04214" "00382699" "03840" "Familial, autosomal recessive" "28y" "see paper" "18y" "20y" "" "" "" "" "" "" "Stargardt disease, type 1 (STGD1)" "retinal disease" ""
"0000276549" "04214" "00382700" "03840" "Familial, autosomal recessive" "27y" "see paper" "16y" "20y" "" "" "" "" "" "" "Stargardt disease, type 1 (STGD1)" "retinal disease" ""
"0000276550" "04214" "00382701" "03840" "Familial, autosomal recessive" "42y" "see paper" "19y" "20y" "" "" "" "" "" "" "Stargardt disease, type 1 (STGD1)" "retinal disease" ""
"0000276551" "04214" "00382702" "03840" "Familial, autosomal recessive" "25y" "see paper" "22y" "24y" "" "" "" "" "" "" "Stargardt disease, type 1 (STGD1)" "retinal disease" ""
"0000276552" "04214" "00382703" "03840" "Familial, autosomal recessive" "63y" "see paper" "44y" "62y" "" "" "" "" "" "" "Stargardt disease, type 1 (STGD1)" "retinal disease" ""
"0000276553" "04214" "00382704" "03840" "Familial, autosomal recessive" "" "see paper" "" "" "" "" "" "" "" "" "Stargardt disease, type 1 (STGD1)" "retinal disease" ""
"0000276554" "04214" "00382705" "03840" "Familial, autosomal recessive" "27y" "see paper" "21y" "27y" "" "" "" "" "" "" "Stargardt disease, type 1 (STGD1)" "retinal disease" ""
"0000276555" "04214" "00382706" "03840" "Familial, autosomal recessive" "50y" "see paper" "7y" "11y" "" "" "" "" "" "" "retinitis pigmentosa, type 19 (RP19)" "retinal disease" ""
"0000276556" "04214" "00382707" "03840" "Familial, autosomal recessive" "" "see paper" "9y" "13y" "" "" "" "" "" "" "retinitis pigmentosa, type 19 (RP19)" "retinal disease" ""
"0000276557" "04214" "00382708" "03840" "Familial, autosomal recessive" "31y" "see paper" "4y" "15y" "" "" "" "" "" "" "Stargardt disease, type 1 (STGD1)" "retinal disease" ""
"0000276558" "04214" "00382709" "03840" "Familial, autosomal recessive" "43y" "see paper" "7y" "9y" "" "" "" "" "" "" "retinitis pigmentosa, type 19 (RP19)" "retinal disease" ""
"0000276559" "04214" "00382710" "03840" "Familial, autosomal recessive" "" "see paper" "" "" "" "" "" "" "" "" "retinitis pigmentosa, type 19 (RP19)" "retinal disease" ""
"0000276560" "04214" "00382711" "03840" "Familial, autosomal recessive" "36y" "see paper" "28y" "32y" "" "" "" "" "" "" "Stargardt disease, type 1 (STGD1)" "retinal disease" ""
"0000276561" "04214" "00382712" "03840" "Familial, autosomal recessive" "" "see paper" "4y" "5y" "" "" "" "" "" "" "retinitis pigmentosa, type 19 (RP19)" "retinal disease" ""
"0000276562" "04214" "00382713" "03840" "Familial, autosomal recessive" "27y" "see paper" "8y" "21y" "" "" "" "" "" "" "Stargardt disease, type 1 (STGD1)" "retinal disease" ""
"0000276563" "04214" "00382714" "03840" "Familial, autosomal recessive" "22y" "see paper" "21y" "21y" "" "" "" "" "" "" "Stargardt disease, type 1 (STGD1)" "retinal disease" ""
"0000276564" "04214" "00382715" "03840" "Familial" "23y" "see paper" "12y" "19y" "" "" "" "" "" "" "" "retinal disease" ""
"0000276565" "04214" "00382716" "03840" "Familial, autosomal recessive" "56y" "see paper" "7y" "7y" "" "" "" "" "" "" "retinitis pigmentosa, type 19 (RP19)" "retinal disease" ""
"0000276566" "04214" "00382717" "03840" "Familial, autosomal recessive" "39y" "see paper" "24y" "26y" "" "" "" "" "" "" "Stargardt disease, type 1 (STGD1)" "retinal disease" ""
"0000276567" "04214" "00382718" "03840" "Familial, autosomal recessive" "55y" "see paper" "8y6m" "9y6m" "" "" "" "" "" "" "retinitis pigmentosa, type 19 (RP19)" "retinal disease" ""
"0000276568" "04214" "00382719" "03840" "Familial, autosomal recessive" "18y" "see paper" "10y" "13y" "" "" "" "" "" "" "Stargardt disease, type 1 (STGD1)" "retinal disease" ""
"0000276569" "04214" "00382720" "03840" "Familial, autosomal recessive" "61y" "see paper" "4y" "14y" "" "" "" "" "" "" "retinitis pigmentosa, type 19 (RP19)" "retinal disease" ""
"0000276570" "04214" "00382721" "03840" "Familial, autosomal recessive" "46y" "see paper" "7y" "8y" "" "" "" "" "" "" "retinitis pigmentosa, type 19 (RP19)" "retinal disease" ""
"0000276571" "04214" "00382722" "03840" "Familial, autosomal recessive" "41y" "see paper" "8y" "8y6m" "" "" "" "" "" "" "Stargardt disease, type 1 (STGD1)" "retinal disease" ""
"0000276572" "04214" "00382723" "03840" "Familial, autosomal recessive" "35y" "see paper" "8y" "9y" "" "" "" "" "" "" "" "retinal disease" ""
"0000276573" "04214" "00382724" "03840" "Isolated (sporadic)" "63y" "see paper" "27y" "60y" "" "" "" "" "" "" "" "retinal disease" ""
"0000276574" "04214" "00382725" "03840" "Familial, autosomal recessive" "37y" "see paper" "5y" "18y" "" "" "" "" "" "" "" "retinal disease" ""
"0000276575" "04214" "00382726" "03840" "Isolated (sporadic)" "59y" "see paper" "26y" "26y" "" "" "" "" "" "" "" "retinal disease" ""
"0000276576" "04214" "00382727" "03840" "Familial, autosomal recessive" "38y" "see paper" "10y" "23y" "" "" "" "" "" "" "retinitis pigmentosa, type 19 (RP19)" "retinal disease" ""
"0000276577" "04214" "00382728" "03840" "Familial, autosomal recessive" "18y" "see paper" "9y" "10y" "" "" "" "" "" "" "Stargardt disease, type 1 (STGD1)" "retinal disease" ""
"0000276578" "04214" "00382729" "03840" "Familial, autosomal recessive" "46y" "see paper" "8y" "10y" "" "" "" "" "" "" "retinitis pigmentosa, type 19 (RP19)" "retinal disease" ""
"0000276579" "04214" "00382730" "03840" "Familial, autosomal recessive" "13y" "see paper" "9y" "12y" "" "" "" "" "" "" "Stargardt disease, type 1 (STGD1)" "retinal disease" ""
"0000276580" "04214" "00382731" "03840" "Familial, autosomal recessive" "18y" "see paper" "7y6m" "8y" "" "" "" "" "" "" "Stargardt disease, type 1 (STGD1)" "retinal disease" ""
"0000276581" "04214" "00382732" "03840" "Familial, autosomal recessive" "9y" "see paper" "7y" "8y" "" "" "" "" "" "" "dystrophy, cone rod, type 3 (CORD-3)" "retinal disease" ""
"0000276582" "04214" "00382733" "03840" "Familial, autosomal recessive" "11y" "see paper" "9y" "9y6m" "" "" "" "" "" "" "Stargardt disease, type 1 (STGD1)" "retinal disease" ""
"0000276583" "04214" "00382734" "03840" "Familial, autosomal recessive" "11y" "see paper" "9y" "10y" "" "" "" "" "" "" "Stargardt disease, type 1 (STGD1)" "retinal disease" ""
"0000276584" "04214" "00382735" "03840" "Familial, autosomal recessive" "10y" "see paper" "9y" "9y" "" "" "" "" "" "" "Stargardt disease, type 1 (STGD1)" "retinal disease" ""
"0000276585" "04214" "00382736" "03840" "Familial, autosomal recessive" "" "see paper" "" "" "" "" "" "" "" "" "Stargardt disease, type 1 (STGD1)" "retinal disease" ""
"0000276655" "04214" "00382799" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" ""
"0000276660" "04214" "00382804" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000276661" "04214" "00382805" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000276662" "04214" "00382806" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000276663" "04214" "00382807" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000277177" "04214" "00383392" "00000" "Familial, autosomal recessive" "" "" "8y" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000277178" "04214" "00383393" "00000" "Familial, autosomal recessive" "" "" "16y" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000277179" "04214" "00383394" "00000" "Familial, autosomal recessive" "" "" "12y" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000277180" "04214" "00383395" "00000" "Familial, autosomal recessive" "" "" "5y" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000277181" "04214" "00383396" "00000" "Familial, autosomal recessive" "" "" "5y" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000277182" "04214" "00383397" "00000" "Familial, autosomal recessive" "" "" "9y" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000277183" "04214" "00383398" "00000" "Familial, autosomal recessive" "" "" "7y" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000277184" "04214" "00383399" "00000" "Familial, autosomal recessive" "" "" "10y" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000277185" "04214" "00383400" "00000" "Familial, autosomal recessive" "" "" "5y" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000277186" "04214" "00383401" "00000" "Familial, autosomal recessive" "" "" "9y" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000277187" "04214" "00383402" "00000" "Familial, autosomal recessive" "" "" "8y" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000277188" "04214" "00383403" "00000" "Familial, autosomal recessive" "" "" "6y" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000277189" "04214" "00383404" "00000" "Familial, autosomal recessive" "" "" "6y" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000277190" "04214" "00383405" "00000" "Familial, autosomal recessive" "" "" "6y" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000277285" "04214" "00383500" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" ""
"0000277292" "04214" "00383507" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Cone dystrophy" ""
"0000277297" "04214" "00383512" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000277298" "04214" "00383513" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000277299" "04214" "00383514" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000277300" "04214" "00383515" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000277301" "04214" "00383516" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000277302" "04214" "00383517" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000277480" "04214" "00383695" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Cone-rod dystrophy" ""
"0000277584" "04214" "00383799" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000277595" "04214" "00383810" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000277598" "04214" "00383813" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000277635" "04214" "00383850" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Cone dystrophy" ""
"0000277636" "04214" "00383851" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Cone-rod dystrophy" ""
"0000277694" "04214" "00383909" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Cone-rod dystrophy" ""
"0000277720" "04214" "00383935" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Cone-rod dystrophy" ""
"0000277724" "04214" "00383939" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Cone-rod dystrophy" ""
"0000277742" "04214" "00383957" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Cone-rod dystrophy" ""
"0000277748" "04214" "00383963" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" ""
"0000277754" "04214" "00383969" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Cone-rod dystrophy" ""
"0000277769" "04214" "00383984" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" ""
"0000277780" "04214" "00383995" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Cone-rod dystrophy" ""
"0000277784" "04214" "00383999" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Cone-rod dystrophy" ""
"0000277785" "04214" "00384000" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Cone-rod dystrophy" ""
"0000277790" "04214" "00384005" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Cone-rod dystrophy" ""
"0000277812" "04214" "00384027" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Cone-rod dystrophy" ""
"0000277814" "04214" "00384029" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Cone-rod dystrophy" ""
"0000277834" "04214" "00384049" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Cone-rod dystrophy" ""
"0000277846" "04214" "00384061" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Cone-rod dystrophy" ""
"0000277856" "04214" "00384071" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Cone-rod dystrophy" ""
"0000277862" "04214" "00384077" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Cone-rod dystrophy" ""
"0000277873" "04214" "00384088" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Cone-rod dystrophy" ""
"0000277875" "04214" "00384090" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Cone-rod dystrophy" ""
"0000277891" "04214" "00384106" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Cone-rod dystrophy" ""
"0000277898" "04214" "00384113" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Cone-rod dystrophy" ""
"0000277903" "04214" "00384118" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Cone-rod dystrophy" ""
"0000277915" "04214" "00384130" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Cone-rod dystrophy" ""
"0000277918" "04214" "00384133" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Cone-rod dystrophy" ""
"0000277934" "04214" "00384149" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" ""
"0000277935" "04214" "00384150" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Cone-rod dystrophy" ""
"0000277962" "04214" "00384177" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" ""
"0000277973" "04214" "00384188" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease 1" ""
"0000277974" "04214" "00384189" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease 1" ""
"0000277975" "04214" "00384190" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease 1" ""
"0000277979" "04214" "00384194" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" ""
"0000277984" "04214" "00384199" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" ""
"0000277991" "04214" "00384206" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" ""
"0000278421" "00198" "00384631" "00000" "Familial, autosomal recessive" "" "Retinitis pigmentosa (AR) and intellectual disability (?)" "" "" "" "" "" "" "" "" "Mixed" "Retinitis pigmentosa and intellectual disability" ""
"0000279410" "04214" "00385615" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa (RP)" ""
"0000279681" "04214" "00385878" "00000" "Familial, autosomal recessive" "45y" "" "" "" "" "" "" "" "" "" "Stargardt disease" "Retinal disease" ""
"0000279757" "04214" "00385956" "00000" "Familial, autosomal recessive" "" "" "8y" "" "" "" "" "" "" "" "" "cone rode dystrophy" ""
"0000279758" "04214" "00385957" "00000" "Familial, autosomal recessive" "" "" "10y" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" ""
"0000279759" "04214" "00385958" "00000" "Familial" "" "" "11y" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" ""
"0000279760" "04214" "00385959" "00000" "Familial" "" "" "11y" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" ""
"0000279969" "04214" "00386166" "00000" "Familial, autosomal recessive" "67y" "" "" "18y" "" "" "" "" "" "" "retinitis pigmentosa" "autosomal dominant retinitis pigmentosa" ""
"0000279972" "04214" "00386169" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000279974" "04214" "00386171" "00000" "Familial, autosomal recessive" "25y" "" "" "20y" "" "" "" "" "" "" "Stargardt Disease" "" ""
"0000279979" "04214" "00386176" "00000" "Familial, autosomal recessive" "15y" "" "" "12y" "" "" "" "" "" "" "Stargardt Disease" "" ""
"0000279980" "04214" "00386177" "00000" "Familial, autosomal recessive" "10y" "" "" "9y" "" "" "" "" "" "" "Stargardt Disease" "" ""
"0000279981" "04214" "00386178" "00000" "Familial, autosomal recessive" "43y" "" "" "27y" "" "" "" "" "" "" "Stargardt Disease" "" ""
"0000279982" "04214" "00386179" "00000" "Familial, autosomal recessive" "49y" "" "" "39y" "" "" "" "" "" "" "Stargardt Disease" "" ""
"0000279984" "04214" "00386181" "00000" "Familial, autosomal recessive" "26y" "" "" "24y" "" "" "" "" "" "" "Stargardt Disease" "" ""
"0000280001" "04214" "00386198" "00000" "Familial, autosomal recessive" "14y" "" "" "13y" "" "" "" "" "" "" "Stargardt Disease" "" ""
"0000280004" "04214" "00386201" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000280009" "04214" "00386206" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Best macular dystrophy" ""
"0000280010" "04214" "00386207" "00000" "Familial, autosomal recessive" "22y" "" "" "16y" "" "" "" "" "" "" "Stargardt Disease" "" ""
"0000280012" "04214" "00386209" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "adult-onset vitelliform macular dystrophy" ""
"0000280020" "04214" "00386217" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000280021" "04214" "00386218" "00000" "Familial, autosomal recessive" "47y" "" "" "30y" "" "" "" "" "" "" "Stargardt Disease" "" ""
"0000280024" "04214" "00386221" "00000" "Familial, autosomal dominant" "53y" "" "" "45y" "" "" "" "" "" "" "retinitis pigmentosa" "" ""
"0000280026" "04214" "00386223" "00000" "Familial, autosomal recessive" "11y" "" "" "10y" "" "" "" "" "" "" "Stargardt Disease" "" ""
"0000280030" "04214" "00386227" "00000" "Familial, autosomal recessive" "46y" "" "" "36y" "" "" "" "" "" "" "cone-rod dystrophy" "" ""
"0000280032" "04214" "00386229" "00000" "Familial, autosomal recessive" "59y" "" "" "40y" "" "" "" "" "" "" "Stargardt Disease" "" ""
"0000280036" "04214" "00386233" "00000" "Familial, autosomal recessive" "32y" "" "" "12y" "" "" "" "" "" "" "early onset retinitis pigmentosa" "" ""
"0000280038" "04214" "00386235" "00000" "Familial, autosomal recessive" "56y" "" "" "48y" "" "" "" "" "" "" "Stargardt Disease" "" ""
"0000280045" "04214" "00386242" "00000" "Familial, autosomal recessive" "30y" "" "" "27y" "" "" "" "" "" "" "Stargardt Disease" "" ""
"0000280049" "04214" "00386246" "00000" "Familial, autosomal recessive" "13y" "" "" "3y" "" "" "" "" "" "" "cone-rod dystrophy" "" ""
"0000280055" "04214" "00386252" "00000" "Familial, autosomal recessive" "16y" "" "" "15y" "" "" "" "" "" "" "Stargardt Disease" "" ""
"0000280058" "04214" "00386255" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000280064" "04214" "00386261" "00000" "Familial, autosomal recessive" "54y" "" "" "45y" "" "" "" "" "" "" "Stargardt Disease" "" ""
"0000280070" "04214" "00386267" "00000" "Familial, X-linked dominant" "83y" "" "" "10y" "" "" "" "" "" "" "early onset retinitis pigmentosa" "autosomal dominant retinitis pigmentosa" ""
"0000280072" "04214" "00386269" "00000" "Familial, autosomal recessive" "51y" "" "" "19y" "" "" "" "" "" "" "Stargardt Disease" "" ""
"0000280073" "04214" "00386270" "00000" "Familial, autosomal recessive" "62y" "" "" "27y" "" "" "" "" "" "" "" "" ""
"0000280084" "04214" "00386281" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000280104" "04214" "00386301" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000280357" "04214" "00386557" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000280491" "04214" "00386691" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000280504" "04214" "00386704" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000280516" "04214" "00386716" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000280519" "04214" "00386719" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000280533" "04214" "00386733" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000280537" "04214" "00386737" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000280553" "04214" "00386753" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000280561" "04214" "00386761" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000280564" "04214" "00386764" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000280573" "04214" "00386773" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000280578" "04214" "00386778" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000280588" "04214" "00386788" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000280606" "04214" "00386806" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000280617" "04214" "00386817" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000280619" "04214" "00386819" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000280636" "04214" "00386836" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000280655" "04214" "00386855" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000280662" "04214" "00386862" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000280663" "04214" "00386863" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000280684" "04214" "00386884" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000280718" "04214" "00386918" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000281069" "04214" "00387506" "00000" "Unknown" "" "" "24y" "" "" "" "" "" "" "" "" "Pericentral Retinal Degeneration (PRD) simplex" ""
"0000281072" "04214" "00387509" "00000" "Unknown" "" "" "33y" "" "" "" "" "" "" "" "" "Pericentral Retinal Degeneration (PRD) simplex" ""
"0000281075" "04214" "00387512" "00000" "Unknown" "" "" "48y" "" "" "" "" "" "" "" "" "Pericentral Retinal Degeneration (PRD) simplex" ""
"0000281080" "04214" "00387517" "00000" "Unknown" "" "" "59y" "" "" "" "" "" "" "" "" "Pericentral Retinal Degeneration (PRD) simplex" ""
"0000281081" "04214" "00387518" "00000" "Familial" "" "" "60y" "" "" "" "" "" "" "" "" "Pericentral Retinal Degeneration (PRD) Multiplex" ""
"0000281646" "04214" "00388051" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000281817" "04214" "00388261" "00000" "Familial, autosomal recessive" "31y" "Abolished photopic and scotopic ERG, best corrected visual acuity both eyes: counting fingers" "12y" "" "" "" "" "" "" "" "retinitis pigmentosa" "retinitis pigmentosa" ""
"0000281818" "04214" "00388262" "00000" "Familial, autosomal recessive" "22y" "best corrected visual acuity both eyes: 20-200" "7y" "" "" "" "" "" "" "" "retinitis pigmentosa with macular involvement" "retinitis pigmentosa with macular involvement" ""
"0000281821" "04214" "00388265" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "retinitis pigmentosa" ""
"0000281855" "04214" "00388303" "00000" "Familial, autosomal recessive" "10y" "" "" "" "" "" "" "" "" "" "Bardet-Biedl syndrome" "Bardet-Biedl syndrome" ""
"0000282081" "04214" "00388541" "00000" "Isolated (sporadic)" "" "Non‐syndrom" "" "26y" "" "" "" "" "" "" "Stargardt disease type 1" "Retinitis pigmentosa" ""
"0000282098" "04214" "00388558" "00000" "Isolated (sporadic)" "" "Non‐syndrom" "" "16y" "" "" "" "" "" "" "Stargardt disease type 1" "Stargardt disease" ""
"0000282100" "04214" "00388560" "00000" "Familial, autosomal recessive" "" "Non‐syndrom" "" "18y" "" "" "" "" "" "" "Stargardt disease type 1" "Maculopathy" ""
"0000282112" "04214" "00388572" "00000" "Isolated (sporadic)" "" "Non‐syndrom" "" "" "" "" "" "" "" "" "Stargardt disease type 1 Fundus flavimaculatus" "Macular atrophy with perimacular ‘flecks’ compatible with Stargardt\'s dis" ""
"0000282114" "04214" "00388574" "00000" "Familial, autosomal recessive" "" "Non‐syndrom" "" "67y" "" "" "" "" "" "" "Stargardt disease type 1 Fundus flavimaculatus" "Macular dystrophy in pattern with flecks" ""
"0000282120" "04214" "00388580" "00000" "Familial, autosomal recessive" "" "Non‐syndrom" "" "12y" "" "" "" "" "" "" "Stargardt disease type 1 Fundus flavimaculatus" "Bull\'s eye maculopathy. Possible macular dystrophy" ""
"0000282121" "04214" "00388581" "00000" "Familial, autosomal recessive" "" "Pretest syndrome" "" "40y" "" "" "" "" "" "" "Stargardt disease type 1" "Retinitis pigmentosa. Atrophy of the optic nerve. Deafness of the right ear" ""
"0000282122" "04214" "00388582" "00000" "Isolated (sporadic)" "" "Non‐syndrom" "" "15y" "" "" "" "" "" "" "Stargardt disease type 1 Fundus flavimaculatus" "Macular atrophy with perimacular flecks" ""
"0000283625" "04214" "00390087" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000283626" "04214" "00390088" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000283627" "04214" "00390089" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000283628" "04214" "00390090" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "retinal disease" "retinal disease" ""
"0000283629" "04214" "00390091" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000283630" "04214" "00390092" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000283631" "04214" "00390093" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "retinal disease" "retinal disease" ""
"0000283632" "04214" "00390094" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "retinal disease" "retinal disease" ""
"0000283633" "04214" "00390095" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000283634" "04214" "00390096" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000283635" "04214" "00390097" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000283636" "04214" "00390098" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000283637" "04214" "00390099" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000283638" "04214" "00390100" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000283639" "04214" "00390101" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000283640" "04214" "00390102" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "retinal disease" "retinal disease" ""
"0000283641" "04214" "00390103" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000283642" "04214" "00390104" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000283643" "04214" "00390105" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000283644" "04214" "00390106" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "retinal disease" "retinal disease" ""
"0000283645" "04214" "00390107" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000283646" "04214" "00390108" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000283647" "04214" "00390109" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000283648" "04214" "00390110" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000283649" "04214" "00390111" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000283650" "04214" "00390112" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000283651" "04214" "00390113" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000283652" "04214" "00390114" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000283653" "04214" "00390115" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000283654" "04214" "00390116" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000283655" "04214" "00390117" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000283656" "04214" "00390118" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "retinal disease" "retinal disease" ""
"0000283657" "04214" "00390119" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "retinal disease" "retinal disease" ""
"0000283658" "04214" "00390120" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000283659" "04214" "00390121" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "retinal disease" "retinal disease" ""
"0000283660" "04214" "00390122" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000283661" "04214" "00390123" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "retinal disease" "retinal disease" ""
"0000283662" "04214" "00390124" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000283663" "04214" "00390125" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000283664" "04214" "00390126" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "retinal disease" "retinal disease" ""
"0000283665" "04214" "00390127" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000283666" "04214" "00390128" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000283667" "04214" "00390129" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "retinal disease" "retinal disease" ""
"0000283668" "04214" "00390130" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000283669" "04214" "00390131" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000283670" "04214" "00390132" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000283671" "04214" "00390133" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000283672" "04214" "00390134" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000283673" "04214" "00390135" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "retinal disease" "retinal disease" ""
"0000283674" "04214" "00390136" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "retinal disease" "retinal disease" ""
"0000283675" "04214" "00390137" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "retinal disease" "retinal disease" ""
"0000283676" "04214" "00390138" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000283677" "04214" "00390139" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000283678" "04214" "00390140" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000283679" "04214" "00390141" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000283680" "04214" "00390142" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000283681" "04214" "00390143" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000283682" "04214" "00390144" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000283683" "04214" "00390145" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000283684" "04214" "00390146" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000283685" "04214" "00390147" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "retinal disease" "retinal disease" ""
"0000283686" "04214" "00390148" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000283687" "04214" "00390149" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000283688" "04214" "00390150" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000283689" "04214" "00390151" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000283690" "04214" "00390152" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000283691" "04214" "00390153" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000283692" "04214" "00390154" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000283693" "04214" "00390155" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000284280" "04214" "00390792" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardts disease (STGD)" ""
"0000284283" "04214" "00390795" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardts disease (STGD)" ""
"0000284290" "04214" "00390802" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardts disease (STGD)" ""
"0000284328" "04214" "00390840" "00000" "Familial, autosomal recessive" "26y-30y" "" "" "" "" "" "" "" "" "" "" "Stargardts disease (STGD)" ""
"0000284330" "04214" "00390842" "00000" "Unknown" "61y-65y" "" "" "" "" "" "" "" "" "" "" "Stargardts disease (STGD)" ""
"0000284331" "04214" "00390843" "00000" "Unknown" "46y-50y" "" "" "" "" "" "" "" "" "" "" "Stargardts disease (STGD)" ""
"0000284333" "04214" "00390845" "00000" "Unknown" "36y-40y" "" "" "" "" "" "" "" "" "" "" "Stargardts disease (STGD)" ""
"0000284334" "04214" "00390846" "00000" "Unknown" "16y-20y" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa (RP)" ""
"0000284335" "04214" "00390847" "00000" "Unknown" "11y-15y" "" "" "" "" "" "" "" "" "" "" "cone dystrophy (COD)" ""
"0000284336" "04214" "00390848" "00000" "Unknown" "16y-20y" "" "" "" "" "" "" "" "" "" "" "Stargardts disease (STGD)" ""
"0000284337" "04214" "00390849" "00000" "Familial, autosomal recessive" "21y-25y" "" "" "" "" "" "" "" "" "" "" "Stargardts disease (STGD)" ""
"0000284342" "04214" "00390854" "00000" "Familial, autosomal recessive" "21y-25y" "" "" "" "" "" "" "" "" "" "" "Stargardts disease (STGD)" ""
"0000284344" "04214" "00390856" "00000" "Unknown" "66y-70y" "" "" "" "" "" "" "" "" "" "" "Stargardts disease (STGD)" ""
"0000284348" "04214" "00390860" "00000" "Unknown" "11y-15y" "" "" "" "" "" "" "" "" "" "" "Stargardts disease (STGD)" ""
"0000284349" "04214" "00390861" "00000" "Unknown" "16y-20y" "" "" "" "" "" "" "" "" "" "" "Stargardts disease (STGD)" ""
"0000284350" "04214" "00390862" "00000" "Familial, autosomal recessive" "46y-50y" "" "" "" "" "" "" "" "" "" "" "Stargardts disease (STGD)" ""
"0000284352" "04214" "00390864" "00000" "Familial, autosomal recessive" "16y-20y" "" "" "" "" "" "" "" "" "" "" "Stargardts disease (STGD)" ""
"0000284353" "04214" "00390865" "00000" "Unknown" "26y-30y" "" "" "" "" "" "" "" "" "" "" "Stargardts disease (STGD)" ""
"0000284356" "04214" "00390868" "00000" "Unknown" "41y-45y" "" "" "" "" "" "" "" "" "" "" "Stargardts disease (STGD)" ""
"0000284359" "04214" "00390871" "00000" "Unknown" "21y-25y" "" "" "" "" "" "" "" "" "" "" "Stargardts disease (STGD)" ""
"0000284366" "04214" "00390878" "00000" "Unknown" "41y-45y" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy (RD)" ""
"0000284368" "04214" "00390880" "00000" "Unknown" "31y-35y" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy (CRD)" ""
"0000284370" "04214" "00390882" "00000" "Unknown" "46y-50y" "" "" "" "" "" "" "" "" "" "" "macular dystrophy (MD)" ""
"0000284371" "04214" "00390883" "00000" "Unknown" "31y-35y" "" "" "" "" "" "" "" "" "" "" "macular dystrophy (MD)" ""
"0000284372" "04214" "00390884" "00000" "Unknown" "36y-40y" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa (RP)" ""
"0000284373" "04214" "00390885" "00000" "Familial, autosomal recessive" "26y-30y" "" "" "" "" "" "" "" "" "" "" "macular dystrophy (MD)" ""
"0000284374" "04214" "00390886" "00000" "Unknown" "21y-25y" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy (CRD)" ""
"0000284375" "04214" "00390887" "00000" "Unknown" "46y-50y" "" "" "" "" "" "" "" "" "" "" "Stargardts disease (STGD)" ""
"0000284376" "04214" "00390888" "00000" "Unknown" "21y-25y" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy (RD)" ""
"0000284377" "04214" "00390889" "00000" "Unknown" "31y-35y" "" "" "" "" "" "" "" "" "" "" "Stargardts disease (STGD)" ""
"0000284378" "04214" "00390890" "00000" "Unknown" "11y-15y" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa (RP)" ""
"0000284379" "04214" "00390891" "00000" "Familial, autosomal recessive" "16y-20y" "" "" "" "" "" "" "" "" "" "" "Stargardts disease (STGD)" ""
"0000284386" "04214" "00390898" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy (RD)" ""
"0000284388" "04214" "00390900" "00000" "Unknown" "46y-50y" "" "" "" "" "" "" "" "" "" "" "Stargardts disease (STGD)" ""
"0000284389" "04214" "00390901" "00000" "Unknown" "26y-30y" "" "" "" "" "" "" "" "" "" "" "Stargardts disease (STGD)" ""
"0000284390" "04214" "00390902" "00000" "Familial, autosomal recessive" "26y-30y" "" "" "" "" "" "" "" "" "" "" "macular dystrophy (MD)" ""
"0000284391" "04214" "00390903" "00000" "Familial, autosomal recessive" "41y-45y" "" "" "" "" "" "" "" "" "" "" "Stargardts disease (STGD)" ""
"0000284392" "04214" "00390904" "00000" "Unknown" "56y-60y" "" "" "" "" "" "" "" "" "" "" "Stargardts disease (STGD)" ""
"0000284395" "04214" "00390907" "00000" "Unknown" "26y-30y" "" "" "" "" "" "" "" "" "" "" "Stargardts disease (STGD)" ""
"0000284396" "04214" "00390908" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardts disease (STGD)" ""
"0000284399" "04214" "00390911" "00000" "Familial, autosomal recessive" "26y-30y" "" "" "" "" "" "" "" "" "" "" "Stargardts disease (STGD)" ""
"0000284400" "04214" "00390912" "00000" "Unknown" "46y-50y" "" "" "" "" "" "" "" "" "" "" "Stargardts disease (STGD)" ""
"0000284401" "04214" "00390913" "00000" "Unknown" "36y-40y" "" "" "" "" "" "" "" "" "" "" "Stargardts disease (STGD)" ""
"0000284403" "04214" "00390915" "00000" "Unknown" "21y-25y" "" "" "" "" "" "" "" "" "" "" "Stargardts disease (STGD)" ""
"0000284405" "04214" "00390917" "00000" "Familial, autosomal recessive" "16y-20y" "" "" "" "" "" "" "" "" "" "" "Stargardts disease (STGD)" ""
"0000284406" "04214" "00390918" "00000" "Familial, autosomal recessive" "21y-25y" "" "" "" "" "" "" "" "" "" "" "Stargardts disease (STGD)" ""
"0000284408" "04214" "00390920" "00000" "Unknown" "31y-35y" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy (CRD)" ""
"0000284409" "04214" "00390921" "00000" "Familial, autosomal recessive" "26y-30y" "" "" "" "" "" "" "" "" "" "" "Stargardts disease (STGD)" ""
"0000284411" "04214" "00390923" "00000" "Familial, autosomal recessive" "41y-45y" "" "" "" "" "" "" "" "" "" "" "Stargardts disease (STGD)" ""
"0000284414" "04214" "00390926" "00000" "Unknown" "16y-20y" "" "" "" "" "" "" "" "" "" "" "macular dystrophy (MD)" ""
"0000284415" "04214" "00390927" "00000" "Familial, autosomal recessive" "26y-30y" "" "" "" "" "" "" "" "" "" "" "Stargardts disease (STGD)" ""
"0000284417" "04214" "00390929" "00000" "Unknown" "76y-80y" "" "" "" "" "" "" "" "" "" "" "Stargardts disease (STGD)" ""
"0000284421" "04214" "00390933" "00000" "Unknown" "76y-80y" "" "" "" "" "" "" "" "" "" "" "Stargardts disease (STGD)" ""
"0000284422" "04214" "00390934" "00000" "Unknown" "46y-50y" "" "" "" "" "" "" "" "" "" "" "Stargardts disease (STGD)" ""
"0000284423" "04214" "00390935" "00000" "Unknown" "11y-15y" "" "" "" "" "" "" "" "" "" "" "Stargardts disease (STGD)" ""
"0000284428" "04214" "00390940" "00000" "Familial, autosomal recessive" "36y-40y" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy (RD)" ""
"0000284434" "04214" "00390946" "00000" "Familial, autosomal recessive" "16y-20y" "" "" "" "" "" "" "" "" "" "" "Stargardts disease (STGD)" ""
"0000284437" "04214" "00390949" "00000" "Unknown" "56y-60y" "" "" "" "" "" "" "" "" "" "" "Stargardts disease (STGD)" ""
"0000284439" "04214" "00390951" "00000" "Unknown" "21y-25y" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy (CRD)" ""
"0000284441" "04214" "00390953" "00000" "Unknown" "36y-40y" "" "" "" "" "" "" "" "" "" "" "macular dystrophy (MD)" ""
"0000284444" "04214" "00390956" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardts disease (STGD)" ""
"0000284445" "04214" "00390957" "00000" "Unknown" "21y-25y" "" "" "" "" "" "" "" "" "" "" "Stargardts disease (STGD)" ""
"0000284447" "04214" "00390959" "00000" "Unknown" "41y-45y" "" "" "" "" "" "" "" "" "" "" "Stargardts disease (STGD)" ""
"0000284448" "04214" "00390960" "00000" "Unknown" "36y-40y" "" "" "" "" "" "" "" "" "" "" "Stargardts disease (STGD)" ""
"0000284452" "04214" "00390964" "00000" "Unknown" "36y-40y" "" "" "" "" "" "" "" "" "" "" "Stargardts disease (STGD)" ""
"0000284453" "04214" "00390965" "00000" "Familial, autosomal recessive" "41y-45y" "" "" "" "" "" "" "" "" "" "" "Stargardts disease (STGD)" ""
"0000284454" "04214" "00390966" "00000" "Unknown" "11y-15y" "" "" "" "" "" "" "" "" "" "" "Stargardts disease (STGD)" ""
"0000284457" "04214" "00390969" "00000" "Unknown" "51y-55y" "" "" "" "" "" "" "" "" "" "" "macular dystrophy (MD)" ""
"0000284458" "04214" "00390970" "00000" "Unknown" "21y-25y" "" "" "" "" "" "" "" "" "" "" "Stargardts disease (STGD)" ""
"0000284462" "04214" "00390974" "00000" "Unknown" "46y-50y" "" "" "" "" "" "" "" "" "" "" "Stargardts disease (STGD)" ""
"0000284463" "04214" "00390975" "00000" "Unknown" "46y-50y" "" "" "" "" "" "" "" "" "" "" "Stargardts disease (STGD)" ""
"0000284464" "04214" "00390976" "00000" "Unknown" "16y-20y" "" "" "" "" "" "" "" "" "" "" "Stargardts disease (STGD)" ""
"0000284466" "04214" "00390978" "00000" "Unknown" "16y-20y" "" "" "" "" "" "" "" "" "" "" "Stargardts disease (STGD)" ""
"0000284470" "04214" "00390982" "00000" "Unknown" "26y-30y" "" "" "" "" "" "" "" "" "" "" "Stargardts disease (STGD)" ""
"0000284475" "04214" "00390987" "00000" "Unknown" "16y-20y" "" "" "" "" "" "" "" "" "" "" "Stargardts disease (STGD)" ""
"0000284478" "04214" "00390990" "00000" "Unknown" "26y-30y" "" "" "" "" "" "" "" "" "" "" "Stargardts disease (STGD)" ""
"0000284482" "04214" "00390994" "00000" "Unknown" "26y-30y" "" "" "" "" "" "" "" "" "" "" "Stargardts disease (STGD)" ""
"0000284483" "04214" "00390995" "00000" "Familial, autosomal recessive" "36y-40y" "" "" "" "" "" "" "" "" "" "" "Stargardts disease (STGD)" ""
"0000284484" "04214" "00390996" "00000" "Unknown" "26y-30y" "" "" "" "" "" "" "" "" "" "" "Stargardts disease (STGD)" ""
"0000284488" "04214" "00391000" "00000" "Unknown" "26y-30y" "" "" "" "" "" "" "" "" "" "" "Stargardts disease (STGD)" ""
"0000284489" "04214" "00391001" "00000" "Unknown" "51y-55y" "" "" "" "" "" "" "" "" "" "" "Stargardts disease (STGD)" ""
"0000284490" "04214" "00391002" "00000" "Familial, autosomal recessive" "46y-50y" "" "" "" "" "" "" "" "" "" "" "Stargardts disease (STGD)" ""
"0000284491" "04214" "00391003" "00000" "Unknown" "36y-40y" "" "" "" "" "" "" "" "" "" "" "macular dystrophy (MD)" ""
"0000284492" "04214" "00391004" "00000" "Unknown" "46y-50y" "" "" "" "" "" "" "" "" "" "" "Stargardts disease (STGD)" ""
"0000284493" "04214" "00391005" "00000" "Familial, autosomal recessive" "46y-50y" "" "" "" "" "" "" "" "" "" "" "Stargardts disease (STGD)" ""
"0000284496" "04214" "00391008" "00000" "Unknown" "46y-50y" "" "" "" "" "" "" "" "" "" "" "Stargardts disease (STGD)" ""
"0000284498" "04214" "00391010" "00000" "Unknown" "46y-50y" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy (RD)" ""
"0000284499" "04214" "00391011" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardts disease (STGD)" ""
"0000284500" "04214" "00391012" "00000" "Unknown" "66y-70y" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy (RD)" ""
"0000284501" "04214" "00391013" "00000" "Unknown" "31y-35y" "" "" "" "" "" "" "" "" "" "" "macular dystrophy (MD)" ""
"0000284502" "04214" "00391014" "00000" "Unknown" "41y-45y" "" "" "" "" "" "" "" "" "" "" "Stargardts disease (STGD)" ""
"0000284503" "04214" "00391015" "00000" "Unknown" "21y-25y" "" "" "" "" "" "" "" "" "" "" "Stargardts disease (STGD)" ""
"0000284634" "04214" "00391192" "00000" "Unknown" "50y" "" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000285417" "04214" "00392139" "00000" "Unknown" "24y" "best corrected visual acuity right/left eye: 0.05/0.16, visual field: central scotoma, fundus: lipofuscin deposits, fundus autofluorescence:lipofuscin deposits, optical coherence tomography:" "" "14y" "" "" "" "" "" "" "RPN-507" "Stargardt disease" ""
"0000285418" "04214" "00392140" "00000" "Unknown" "26y" "best corrected visual acuity right/left eye: 0.05/0.15, visual field: central scotoma, fundus: lipofuscin deposits, fundus autofluorescence:lipofuscin deposits, optical coherence tomography: center: ellipsoid zone loss; TYR mutation causing oculocutaneous albinism type 1 could be responsible for early-onset" "" "16y" "" "" "" "" "" "" "RPN-508" "Stargardt disease" ""
"0000285442" "04214" "00392164" "00000" "Unknown" "24y" "best corrected visual acuity right/left eye: 0.05/0.16, visual field: central scotoma, fundus: lipofuscin deposits, fundus autofluorescence:lipofuscin deposits, optical coherence tomography:" "" "14y" "" "" "" "" "" "" "RPN-507" "Stargardt disease" ""
"0000285443" "04214" "00392165" "00000" "Unknown" "26y" "best corrected visual acuity right/left eye: 0.05/0.15, visual field: central scotoma, fundus: lipofuscin deposits, fundus autofluorescence:lipofuscin deposits, optical coherence tomography: center: ellipsoid zone loss; TYR mutation causing oculocutaneous albinism type 1 could be responsible for early-onset" "" "16y" "" "" "" "" "" "" "RPN-508" "Stargardt disease" ""
"0000285780" "00420" "00392504" "04206" "Familial, autosomal recessive" "" "" "12y" "17y" "Impaired vision" "" "" "" "" "" "" "" ""
"0000285781" "00420" "00392283" "04206" "Familial, autosomal recessive" "21y" "" "11y" "21y" "Impaired vision" "" "" "" "" "" "" "" ""
"0000285782" "00420" "00391590" "04206" "Familial, autosomal recessive" "10y" "" "10y" "10y" "Impaired vision" "" "" "" "" "" "" "" ""
"0000285783" "00420" "00391591" "04206" "Familial, autosomal recessive" "07y" "" "07y" "06y" "" "" "" "" "" "" "" "" ""
"0000285784" "00420" "00392505" "04206" "Familial, autosomal recessive" "11y" "" "11y" "05y" "Impaired vision" "" "" "" "" "" "" "" ""
"0000285785" "00420" "00392506" "04206" "Familial, autosomal recessive" "09y" "" "06y" "09y" "Impaired vision" "" "" "" "" "" "" "" ""
"0000285786" "00420" "00392507" "04206" "Familial, autosomal recessive" "06y" "" "06y" "06y" "Impaired vision" "" "" "" "" "" "" "" ""
"0000285787" "00420" "00392508" "04206" "Familial, autosomal recessive" "54y" "" "07y" "" "Impaired vision" "" "" "" "" "" "" "" ""
"0000285788" "00420" "00392509" "04206" "Familial, autosomal recessive" "06y" "" "06y" "06y" "Impaired vision" "" "" "" "" "" "" "" ""
"0000285789" "00420" "00392510" "04206" "Familial, autosomal recessive" "19y" "" "09y" "19y" "Impaired vision" "" "" "" "" "" "" "" ""
"0000285790" "00420" "00392515" "04206" "Familial, autosomal recessive" "09y" "" "04y" "09y" "Impaired vision" "" "" "" "" "" "" "" ""
"0000285791" "00420" "00392521" "04206" "Familial, autosomal recessive" "32y" "" "" "32y" "Impaired vision" "" "" "" "" "" "" "" ""
"0000285792" "00420" "00392531" "04206" "Familial, autosomal recessive" "10y" "" "09y" "10y" "Impaired vision" "" "" "" "" "" "" "" ""
"0000285793" "00420" "00392536" "04206" "Familial, autosomal recessive" "15y" "" "08y" "15y" "Impaired vision" "" "" "" "" "" "" "" ""
"0000285794" "00420" "00392541" "04206" "Familial, autosomal recessive" "18y" "" "12y" "18y" "Impaired vision" "" "" "" "" "" "" "" ""
"0000285795" "00420" "00392543" "04206" "Familial, autosomal recessive" "25y" "" "18y" "25y" "Impaired vision" "" "" "" "" "" "" "" ""
"0000285796" "00420" "00392547" "04206" "Familial, autosomal recessive" "25y" "" "07y" "25y" "Impaired vision" "" "" "" "" "" "" "" ""
"0000285797" "00420" "00392550" "04206" "Familial, autosomal recessive" "09y" "" "06y" "09y" "Impaired vision" "" "" "" "" "" "" "" ""
"0000285811" "04214" "00392564" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "retinitis pigmentosa" ""
"0000285819" "04214" "00392572" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" "Stargardt disease" ""
"0000285820" "04214" "00392573" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" "Stargardt disease" ""
"0000285832" "04214" "00392585" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" "Stargardt disease" ""
"0000285835" "04214" "00392588" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" "Stargardt disease" ""
"0000285852" "04214" "00392605" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "retinitis pigmentosa" ""
"0000285859" "04214" "00392612" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" "Stargardt disease" ""
"0000285860" "04214" "00392613" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" "Stargardt disease" ""
"0000285864" "04214" "00392617" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" "Stargardt disease" ""
"0000285865" "04214" "00392618" "00000" "Familial, autosomal recessive" "" "initial diagnosis of isolated (sporadic) retinitis pigmentosa redifined to macular dystrophy" "" "" "" "" "" "" "" "" "macular dystrophy" "retinitis pigmentosa" ""
"0000285866" "04214" "00392619" "00000" "Familial, autosomal recessive" "" "initial diagnosis of isolated (sporadic) retinitis pigmentosa redifined to Stargardt disease" "" "" "" "" "" "" "" "" "Stargardt disease" "retinitis pigmentosa" ""
"0000285870" "04214" "00392623" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" "Stargardt disease" ""
"0000285871" "04214" "00392624" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" "Stargardt disease" ""
"0000285880" "04214" "00392633" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "retinitis pigmentosa" ""
"0000285890" "04214" "00392643" "00000" "Familial, autosomal recessive" "" "initial diagnosis of autosomal recessive cone-rod dystrophy redifined to retinitis pigmentosa" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "cone-rod dystrophy" ""
"0000285918" "04214" "00392671" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "retinitis pigmentosa" ""
"0000285998" "00420" "00392751" "04206" "Familial, autosomal recessive" "17y" "" "12y" "17y" "Impaired vision" "" "" "" "" "" "" "" ""
"0000285999" "00420" "00392752" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000286000" "00420" "00392753" "04206" "Familial, autosomal recessive" "36y" "" "33y" "36y" "Impaired vision" "" "" "" "" "" "" "" ""
"0000286001" "00420" "00392754" "04206" "Familial, autosomal recessive" "10y" "" "03y" "10y" "Impaired vision" "" "" "" "" "" "" "" ""
"0000286002" "00420" "00392755" "04206" "Familial, autosomal recessive" "10y" "" "08y" "10y" "Impaired vision" "" "" "" "" "" "" "" ""
"0000286003" "00420" "00392756" "04206" "Familial, autosomal recessive" "26y" "" "16y" "26y" "Impaired vision" "" "" "" "" "" "" "" ""
"0000286004" "00420" "00392757" "04206" "Familial, autosomal recessive" "22y" "" "02y" "22y" "Impaired vision" "" "" "" "" "" "" "" ""
"0000286005" "00420" "00392758" "04206" "Familial, autosomal recessive" "16y" "" "14y" "16y" "Impaired vision" "" "" "" "" "" "" "" ""
"0000286006" "00420" "00392759" "04206" "Familial, autosomal recessive" "13y" "" "13y" "13y" "Impaired vision" "" "" "" "" "" "" "" ""
"0000286007" "00420" "00392761" "04206" "Familial, autosomal recessive" "07y" "" "06y" "07y" "Impaired vision" "" "" "" "" "" "" "" ""
"0000286008" "00420" "00392762" "04206" "Familial, autosomal recessive" "" "" "" "" "Impaired vision" "" "" "" "" "" "" "" ""
"0000286009" "00420" "00392763" "04206" "Familial, autosomal recessive" "10y" "" "09y" "10y" "Impaired vision" "" "" "" "" "" "" "" ""
"0000286550" "04214" "00393309" "00000" "Familial, autosomal recessive" "9y" "" "" "" "" "" "" "" "" "" "Stargardt disease" "Stargardt disease" ""
"0000286551" "04214" "00393310" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" "Stargardt disease" ""
"0000286552" "04214" "00393311" "00000" "Familial, autosomal recessive" "15y" "" "" "" "" "" "" "" "" "" "Stargardt disease" "Stargardt disease" ""
"0000286553" "04214" "00393312" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" "Stargardt disease" ""
"0000286556" "04214" "00393315" "00000" "Isolated (sporadic)" "50y" "" "" "" "" "" "" "" "" "" "Stargardt disease" "Stargardt disease" ""
"0000286557" "04214" "00393316" "00000" "Isolated (sporadic)" "30y" "" "" "" "" "" "" "" "" "" "Stargardt disease" "Stargardt disease" ""
"0000286558" "04214" "00393317" "00000" "Isolated (sporadic)" "9y" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "retinitis pigmentosa" ""
"0000286559" "04214" "00393318" "00000" "Isolated (sporadic)" "16y" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "retinitis pigmentosa" ""
"0000286560" "04214" "00393319" "00000" "Isolated (sporadic)" "52y" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "retinitis pigmentosa" ""
"0000286561" "04214" "00393320" "00000" "Isolated (sporadic)" "65y" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "retinitis pigmentosa" ""
"0000286562" "04214" "00393321" "00000" "Isolated (sporadic)" "61y" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "retinitis pigmentosa" ""
"0000286563" "04214" "00393322" "00000" "Isolated (sporadic)" "10y" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "retinitis pigmentosa" ""
"0000286564" "04214" "00393323" "00000" "Isolated (sporadic)" "58y" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "retinitis pigmentosa" ""
"0000286565" "04214" "00393324" "00000" "Isolated (sporadic)" "66y" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "retinitis pigmentosa" ""
"0000286566" "04214" "00393325" "00000" "Isolated (sporadic)" "50y" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "retinitis pigmentosa" ""
"0000286567" "04214" "00393326" "00000" "Isolated (sporadic)" "56y" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "retinitis pigmentosa" ""
"0000286568" "04214" "00393327" "00000" "Isolated (sporadic)" "30y" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "retinitis pigmentosa" ""
"0000286569" "04214" "00393328" "00000" "Isolated (sporadic)" "56y" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "retinitis pigmentosa" ""
"0000286570" "04214" "00393329" "00000" "Isolated (sporadic)" "26y" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "retinitis pigmentosa" ""
"0000286658" "04214" "00393452" "00000" "Familial, autosomal recessive" "14y" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa (RP)" ""
"0000286675" "04214" "00393469" "00000" "Familial, autosomal recessive" "14y" "" "" "" "" "" "" "" "" "" "" "Cone-rod Dystrophy (CORD)" ""
"0000286694" "04214" "00393488" "00000" "Isolated (sporadic)" "47y" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa (RP)" ""
"0000286732" "04214" "00393526" "00000" "Isolated (sporadic)" "23y" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa (RP)" ""
"0000286733" "04214" "00393527" "00000" "Isolated (sporadic)" "10y" "" "" "" "" "" "" "" "" "" "" "Stargardt Disease (STGD)" ""
"0000286801" "04214" "00393595" "00000" "Isolated (sporadic)" "50y" "" "" "" "" "" "" "" "" "" "" "Stargardt Disease (STGD)" ""
"0000286819" "04214" "00393613" "00000" "Familial, autosomal recessive" "25y" "" "" "" "" "" "" "" "" "" "" "Stargardt Disease (STGD)" ""
"0000286834" "04214" "00393628" "00000" "Isolated (sporadic)" "33y" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa (RP)" ""
"0000286856" "04214" "00393650" "00000" "Isolated (sporadic)" "8y" "" "" "" "" "" "" "" "" "" "" "Stargardt Disease (STGD)" ""
"0000286868" "04214" "00393662" "00000" "Isolated (sporadic)" "23y" "" "" "" "" "" "" "" "" "" "" "Stargardt Disease (STGD)" ""
"0000286869" "04214" "00393663" "00000" "Isolated (sporadic)" "11y" "" "" "" "" "" "" "" "" "" "" "Stargardt Disease (STGD)" ""
"0000286884" "04214" "00393678" "00000" "Isolated (sporadic)" "48y" "" "" "" "" "" "" "" "" "" "" "Stargardt Disease (STGD)" ""
"0000286888" "04214" "00393682" "00000" "Isolated (sporadic)" "31y" "" "" "" "" "" "" "" "" "" "" "Cone-rod Dystrophy (CORD)" ""
"0000286890" "04214" "00393684" "00000" "Isolated (sporadic)" "17y" "" "" "" "" "" "" "" "" "" "" "Stargardt Disease (STGD)" ""
"0000286891" "04214" "00393685" "00000" "Isolated (sporadic)" "23y" "" "" "" "" "" "" "" "" "" "" "Stargardt Disease (STGD)" ""
"0000286909" "04214" "00393703" "00000" "Isolated (sporadic)" "74y" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa (RP)" ""
"0000286910" "04214" "00393704" "00000" "Isolated (sporadic)" "19y" "" "" "" "" "" "" "" "" "" "" "Stargardt Disease (STGD)" ""
"0000286911" "04214" "00393705" "00000" "Isolated (sporadic)" "47y" "" "" "" "" "" "" "" "" "" "" "Stargardt Disease (STGD)" ""
"0000286932" "04214" "00393726" "00000" "Isolated (sporadic)" "23y" "" "" "" "" "" "" "" "" "" "" "Stargardt Disease (STGD)" ""
"0000286935" "04214" "00393729" "00000" "Isolated (sporadic)" "11y" "" "" "" "" "" "" "" "" "" "" "Stargardt Disease (STGD)" ""
"0000286937" "04214" "00393731" "00000" "Isolated (sporadic)" "23y" "" "" "" "" "" "" "" "" "" "" "Stargardt Disease (STGD)" ""
"0000286943" "04214" "00393737" "00000" "Isolated (sporadic)" "51y" "" "" "" "" "" "" "" "" "" "" "Cone-rod Dystrophy (CORD)" ""
"0000286959" "04214" "00393753" "00000" "Isolated (sporadic)" "45y" "" "" "" "" "" "" "" "" "" "" "Stargardt Disease (STGD)" ""
"0000286969" "04214" "00393763" "00000" "Familial, autosomal recessive" "39y" "" "" "" "" "" "" "" "" "" "" "Stargardt Disease (STGD)" ""
"0000286971" "04214" "00393765" "00000" "Isolated (sporadic)" "30y" "" "" "" "" "" "" "" "" "" "" "Stargardt Disease (STGD)" ""
"0000286972" "04214" "00393766" "00000" "Familial, autosomal recessive" "29y" "" "" "" "" "" "" "" "" "" "" "Stargardt Disease (STGD)" ""
"0000286983" "04214" "00393777" "00000" "Isolated (sporadic)" "45y" "" "" "" "" "" "" "" "" "" "" "Stargardt Disease (STGD)" ""
"0000286985" "04214" "00393779" "00000" "Isolated (sporadic)" "55y" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa (RP)" ""
"0000286990" "04214" "00393784" "00000" "Isolated (sporadic)" "14y" "" "" "" "" "" "" "" "" "" "" "Stargardt Disease (STGD)" ""
"0000286993" "04214" "00393787" "00000" "Isolated (sporadic)" "39y" "" "" "" "" "" "" "" "" "" "" "Cone-rod Dystrophy (CORD)" ""
"0000287010" "04214" "00393804" "00000" "Isolated (sporadic)" "33y" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa (RP)" ""
"0000287013" "04214" "00393807" "00000" "Isolated (sporadic)" "29y" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa (RP)" ""
"0000287023" "04214" "00393817" "00000" "Isolated (sporadic)" "21y" "" "" "" "" "" "" "" "" "" "" "Stargardt Disease (STGD)" ""
"0000287029" "04214" "00393823" "00000" "Isolated (sporadic)" "31y" "" "" "" "" "" "" "" "" "" "" "Cone-rod Dystrophy (CORD)" ""
"0000287041" "04214" "00393835" "00000" "Familial, autosomal dominant" "21y" "" "" "" "" "" "" "" "" "" "" "Stargardt Disease (STGD)" ""
"0000287048" "04214" "00393842" "00000" "Familial, autosomal recessive" "38y" "" "" "" "" "" "" "" "" "" "" "Stargardt Disease (STGD)" ""
"0000287073" "04214" "00393867" "00000" "Isolated (sporadic)" "53y" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa (RP)" ""
"0000287076" "04214" "00393870" "00000" "Isolated (sporadic)" "54y" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa (RP)" ""
"0000287083" "04214" "00393877" "00000" "Isolated (sporadic)" "48y" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa (RP)" ""
"0000287095" "04214" "00393889" "00000" "Isolated (sporadic)" "44y" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa (RP)" ""
"0000287098" "04214" "00393892" "00000" "Isolated (sporadic)" "40y" "" "" "" "" "" "" "" "" "" "" "Stargardt Disease (STGD)" ""
"0000287100" "04214" "00393894" "00000" "Familial, autosomal recessive" "21y" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa (RP)" ""
"0000287101" "04214" "00393895" "00000" "Isolated (sporadic)" "45y" "" "" "" "" "" "" "" "" "" "" "Stargardt Disease (STGD)" ""
"0000287104" "04214" "00393898" "00000" "Isolated (sporadic)" "47y" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa (RP)" ""
"0000287105" "04214" "00393899" "00000" "Isolated (sporadic)" "22y" "" "" "" "" "" "" "" "" "" "" "Stargardt Disease (STGD)" ""
"0000287114" "04214" "00393908" "00000" "Isolated (sporadic)" "23y" "" "" "" "" "" "" "" "" "" "" "Stargardt Disease (STGD)" ""
"0000287117" "04214" "00393911" "00000" "Isolated (sporadic)" "40y" "" "" "" "" "" "" "" "" "" "" "Stargardt Disease (STGD)" ""
"0000287121" "04214" "00393915" "00000" "Isolated (sporadic)" "36y" "" "" "" "" "" "" "" "" "" "" "Stargardt Disease (STGD)" ""
"0000287205" "04214" "00393999" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Inherited Retinal Dystrophies" ""
"0000287209" "04214" "00394003" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Inherited Retinal Dystrophies" ""
"0000287210" "04214" "00394004" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Inherited Retinal Dystrophies" ""
"0000287540" "04214" "00394336" "00000" "Familial, autosomal recessive" "" "SD, diagnosed 6 y" "" "6y" "" "" "" "" "" "" "Stargardt disease" "" ""
"0000287541" "04214" "00394337" "00000" "Familial, autosomal recessive" "" "SD, diagnosed 70 y" "" "70y" "" "" "" "" "" "" "Stargardt disease" "" ""
"0000287542" "04214" "00394338" "00000" "Familial, autosomal recessive" "" "SD, diagnosed 6 y" "" "6y" "" "" "" "" "" "" "Stargardt disease" "" ""
"0000287543" "04214" "00394339" "00000" "Familial, autosomal recessive" "" "SD, symptoms 35 y, also hearing impairment" "35y" "" "" "" "" "" "" "" "Stargardt disease" "" ""
"0000287544" "04214" "00394340" "00000" "Familial, autosomal recessive" "" "SD, symptoms 46 y" "46y" "" "" "" "" "" "" "" "Stargardt disease" "" ""
"0000287545" "04214" "00394341" "00000" "Familial, autosomal recessive" "" "SD, symptoms about 50 y" "50y" "" "" "" "" "" "" "" "Stargardt disease" "" ""
"0000287546" "04214" "00394342" "00000" "Familial, autosomal recessive" "" "SD, diagnosed 49 y" "" "49y" "" "" "" "" "" "" "Stargardt disease" "" ""
"0000287547" "04214" "00394343" "00000" "Familial, autosomal recessive" "" "SD, diagnosed 13 y" "" "13y" "" "" "" "" "" "" "Stargardt disease" "" ""
"0000287548" "04214" "00394344" "00000" "Familial, autosomal recessive" "" "SD, symptoms 40 y, slowly progressing" "40y" "" "" "" "" "" "" "" "Stargardt disease" "" ""
"0000287549" "04214" "00394345" "00000" "Familial, autosomal recessive" "" "SD, diagnosed 47 y" "" "47y" "" "" "" "" "" "" "Stargardt disease" "" ""
"0000288410" "04214" "00395210" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Stargardt disease 1" "Stargardt disease" ""
"0000288411" "04214" "00395211" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Stargardt disease 1" "Stargardt disease" ""
"0000288412" "04214" "00395212" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Stargardt disease 1" "Stargardt disease" ""
"0000288413" "04214" "00395213" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Stargardt disease 1" "Stargardt disease" ""
"0000288414" "04214" "00395214" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Stargardt disease 1" "Stargardt disease" ""
"0000288415" "04214" "00395215" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Stargardt disease 1" "Stargardt disease" ""
"0000288416" "04214" "00395216" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Stargardt disease 1" "Stargardt disease" ""
"0000288417" "04214" "00395217" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Stargardt disease 1" "Stargardt disease" ""
"0000288418" "04214" "00395218" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Stargardt disease 1" "Stargardt disease" ""
"0000288419" "04214" "00395219" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Stargardt disease 1" "Stargardt disease" ""
"0000288420" "04214" "00395220" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Stargardt disease 1" "Stargardt disease" ""
"0000288630" "04214" "00395431" "00000" "Unknown" "49y" "bilateral pattern dystrophy; best corrected visual acuity right/left eye: at onset: 0.05/0.1, last visit: 0.21/0.49, family history: no" "57y" "" "" "" "" "" "" "" "multifocal pattern dystrophy simulating Stargardt disease/fundus flavimaculatus" "" ""
"0000288631" "04214" "00395432" "00000" "Unknown" "45y" "bilateral pattern dystrophy; best corrected visual acuity right/left eye: at onset: 0/0, last visit: 0/0, family history: no" "53y" "" "" "" "" "" "" "" "multifocal pattern dystrophy simulating Stargardt disease/fundus flavimaculatus" "" ""
"0000288632" "04214" "00395433" "00000" "Unknown" "56y" "bilateral pattern dystrophy; best corrected visual acuity right/left eye: at onset: 0.7/0.21, last visit: 1/0.3, family history: no" "65y" "" "" "" "" "" "" "" "reticular dystrophy of the RPE" "" ""
"0000288910" "04214" "00395748" "00000" "Unknown" "13y2m" "" "5y" "" "" "" "" "" "" "" "macular dystrophy" "" ""
"0000288911" "04214" "00395749" "00000" "Unknown" "20y11m" "" "12y" "" "" "" "" "" "" "" "macular dystrophy" "" ""
"0000288932" "04214" "00395770" "00000" "Unknown" "19y4m" "" "17y" "" "" "" "" "" "" "" "macular dystrophy" "" ""
"0000288934" "04214" "00395772" "00000" "Unknown" "47y7m" "" "44y" "" "" "" "" "" "" "" "retinitis pigmentosa" "" ""
"0000288937" "04214" "00395775" "00000" "Unknown" "6y4m" "" "4y" "" "" "" "" "" "" "" "macular dystrophy" "" ""
"0000288942" "04214" "00395780" "00000" "Unknown" "14y10m" "" "15y" "" "" "" "" "" "" "" "macular dystrophy" "" ""
"0000288943" "04214" "00395781" "00000" "Unknown" "31y11m" "" "21y" "" "" "" "" "" "" "" "macular dystrophy" "" ""
"0000288947" "04214" "00395785" "00000" "Unknown" "76y5m" "" "40y" "" "" "" "" "" "" "" "macular dystrophy" "" ""
"0000288950" "04214" "00395788" "00000" "Unknown" "45y5m" "" "15y" "" "" "" "" "" "" "" "retinitis pigmentosa" "" ""
"0000288952" "04214" "00395790" "00000" "Unknown" "19y5m" "" "12y" "" "" "" "" "" "" "" "retinitis pigmentosa" "" ""
"0000288960" "04214" "00395798" "00000" "Unknown" "76y11m" "" "21y" "" "" "" "" "" "" "" "macular dystrophy" "" ""
"0000288962" "04214" "00395800" "00000" "Unknown" "41y" "" "11y" "" "" "" "" "" "" "" "macular dystrophy" "" ""
"0000288963" "04214" "00395801" "00000" "Unknown" "52y" "" "21y" "" "" "" "" "" "" "" "macular dystrophy" "" ""
"0000288964" "04214" "00395802" "00000" "Unknown" "42y7m" "" "38y" "" "" "" "" "" "" "" "cone-rod dystrophy" "" ""
"0000288965" "04214" "00395803" "00000" "Unknown" "12y" "" "6y" "" "" "" "" "" "" "" "cone-rod dystrophy" "" ""
"0000288966" "04214" "00395804" "00000" "Unknown" "42y6m" "" "21y" "" "" "" "" "" "" "" "macular dystrophy" "" ""
"0000288981" "04214" "00395819" "00000" "Unknown" "12y10m" "" "" "" "" "" "" "" "" "" "macular dystrophy" "" ""
"0000288982" "04214" "00395820" "00000" "Unknown" "26y11m" "" "15y" "" "" "" "" "" "" "" "macular dystrophy" "" ""
"0000288983" "04214" "00395821" "00000" "Unknown" "63y2m" "" "21y" "" "" "" "" "" "" "" "retinitis pigmentosa" "" ""
"0000288984" "04214" "00395822" "00000" "Unknown" "22y10m" "" "13y" "" "" "" "" "" "" "" "macular dystrophy" "" ""
"0000288985" "04214" "00395823" "00000" "Unknown" "23y4m" "" "5y" "" "" "" "" "" "" "" "macular dystrophy" "" ""
"0000288986" "04214" "00395824" "00000" "Unknown" "28y" "" "22y" "" "" "" "" "" "" "" "macular dystrophy" "" ""
"0000288987" "04214" "00395825" "00000" "Unknown" "68y" "" "21y" "" "" "" "" "" "" "" "retinitis pigmentosa" "" ""
"0000288988" "04214" "00395826" "00000" "Unknown" "59y2m" "" "13y" "" "" "" "" "" "" "" "retinitis pigmentosa" "" ""
"0000288993" "04214" "00395831" "00000" "Unknown" "54y1m" "" "50y" "" "" "" "" "" "" "" "macular dystrophy" "" ""
"0000289006" "04214" "00395844" "00000" "Unknown" "35y5m" "" "1y" "" "" "" "" "" "" "" "retinitis pigmentosa" "" ""
"0000289064" "04214" "00395902" "00000" "Unknown" "52y5m" "" "50y" "" "" "" "" "" "" "" "macular dystrophy" "" ""
"0000289073" "04214" "00395911" "00000" "Unknown" "54y6m" "" "11y" "" "" "" "" "" "" "" "retinitis pigmentosa" "" ""
"0000289083" "04214" "00395921" "00000" "Unknown" "37y7m" "" "30y" "" "" "" "" "" "" "" "cone-rod dystrophy" "" ""
"0000289573" "04214" "00396411" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000289574" "04214" "00396412" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000289575" "04214" "00396413" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000289580" "04214" "00396418" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000289585" "04214" "00396423" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000289589" "04214" "00396427" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000289635" "04214" "00396474" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Stargardt Disease" "" ""
"0000289636" "04214" "00396475" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Stargardt Disease" "" ""
"0000289639" "04214" "00396478" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Stargardt Disease" "" ""
"0000292919" "04214" "00399878" "00000" "Familial, autosomal recessive" "" "At the age of 21, the logMAR visual acuity for the left eye was 0.78. The autofluorescence type was described as a localized low signal at the fovea surrounded by a homogeneous background. The size of the atrophy was <0.18mm^2." "18y" "" "The logMAR visual acuity for the left eye was 0.48. The autofluorescence type was described as a localized low signal at the fovea surrounded by a homogeneous background. The size of the atrophy was <0.18mm^2." "" "" "" "" "" "" "Stargardt disease, type 1 (STGD1)" ""
"0000292920" "04214" "00399879" "00000" "Familial, autosomal recessive" "" "At the age of 29, the logMAR visual acuity for the left eye was 1.08. The autofluorescence type was described as a localized low signal at the fovea surrounded by a homogeneous background. The size of the atrophy was 0.74mm^2." "27y" "" "The logMAR visual acuity for the left eye was 0.3. The autofluorescence type was described as a localized low signal at the fovea surrounded by a homogeneous background. The size of the atrophy was 0.26mm^2." "" "" "" "" "" "" "Stargardt disease, type 1 (STGD1)" ""
"0000292921" "04214" "00399880" "00000" "Familial, autosomal recessive" "" "At the age of 11, the logMAR visual acuity for the right eye was 1. The autofluorescence type was described as a localized low signal at the fovea surrounded by a homogeneous background. The size of the atrophy was 0.29mm^2." "9y" "" "The logMAR visual acuity for the right eye was 1.08. The autofluorescence type was described as a localized low signal at the fovea surrounded by a homogeneous background. The size of the atrophy was <0.18mm^2." "" "" "" "" "" "" "Stargardt disease, type 1 (STGD1)" ""
"0000292922" "04214" "00399881" "00000" "Familial, autosomal recessive" "" "At the age of 28, the logMAR visual acuity for the right eye was 0.18. The autofluorescence type was described as a localized low signal at the fovea surrounded by a homogeneous background. The size of the atrophy was <0.18mm^2." "28y" "" "The logMAR visual acuity for the right eye was 0. The autofluorescence type was described as a localized low signal at the fovea surrounded by a homogeneous background. The size of the atrophy was <0.18mm^2." "" "" "" "" "" "" "Stargardt disease, type 1 (STGD1)" ""
"0000292923" "04214" "00399882" "00000" "Familial, autosomal recessive" "" "At the age of 28, the logMAR visual acuity for the right eye was 1.3. The autofluorescence type was described as a localized low signal at the fovea surrounded by a homogeneous background. The size of the atrophy was 0.72mm^2." "24y" "" "The logMAR visual acuity for the right eye was 0.6. The autofluorescence type was described as a localized low signal at the fovea surrounded by a homogeneous background. The size of the atrophy was 0.47mm^2." "" "" "" "" "" "" "Stargardt disease, type 1 (STGD1)" ""
"0000292924" "04214" "00399883" "00000" "Familial, autosomal recessive" "" "At the age of 14, the logMAR visual acuity for the left eye was 1. The autofluorescence type was described as a localized low signal at the fovea surrounded by a homogeneous background. The size of the atrophy was 1.42mm^2." "14y" "" "The logMAR visual acuity for the left eye was 0.48. The autofluorescence type was described as a localized low signal at the fovea surrounded by a homogeneous background. The size of the atrophy was <0.18mm^2." "" "" "" "" "" "" "Stargardt disease, type 1 (STGD1)" ""
"0000292925" "04214" "00399884" "00000" "Familial, autosomal recessive" "" "At the age of 39, the logMAR visual acuity for the right eye was 0.78. The autofluorescence type was described as a localized low signal at the fovea surrounded by a homogeneous background. The size of the atrophy was 1mm^2." "39y" "" "The logMAR visual acuity for the right eye was 0.78. The autofluorescence type was described as a localized low signal at the fovea surrounded by a homogeneous background. The size of the atrophy was 0.25mm^2." "" "" "" "" "" "" "Stargardt disease, type 1 (STGD1)" ""
"0000292926" "04214" "00399885" "00000" "Familial, autosomal recessive" "" "At the age of 23, the logMAR visual acuity for the right eye was 1.3. The autofluorescence type was described as a localized low signal at the macula surrounded by a heterogeneous background with numerous foci of abnormal signal. The size of the atrophy was 2.07mm^2." "12y" "" "The logMAR visual acuity for the right eye was 1.3. The autofluorescence type was described as a localized low signal at the fovea surrounded by a homogeneous background. The size of the atrophy was <0.18mm^2." "" "" "" "" "" "" "Stargardt disease, type 1 (STGD1)" ""
"0000292927" "04214" "00399886" "00000" "Familial, autosomal recessive" "" "At the age of 18, the logMAR visual acuity for the right eye was 1. The autofluorescence type was described as a localized low signal at the macula surrounded by a heterogeneous background with numerous foci of abnormal signal. The size of the atrophy was 1.09mm^2." "14y" "" "The logMAR visual acuity for the right eye was 0.78. The autofluorescence type was described as a localized low signal at the macula surrounded by a heterogeneous background with numerous foci of abnormal signal. The size of the atrophy was 0.29mm^2." "" "" "" "" "" "" "Stargardt disease, type 1 (STGD1)" ""
"0000292928" "04214" "00399887" "00000" "Familial, autosomal recessive" "" "At the age of 35, the logMAR visual acuity for the right eye was 0.78. The autofluorescence type was described as a localized low signal at the macula surrounded by a heterogeneous background with numerous foci of abnormal signal. The size of the atrophy was 5.09mm^2." "26y" "" "The logMAR visual acuity for the right eye was 0.78. The autofluorescence type was described as a localized low signal at the macula surrounded by a heterogeneous background with numerous foci of abnormal signal. The size of the atrophy was 0.84mm^2." "" "" "" "" "" "" "Stargardt disease, type 1 (STGD1)" ""
"0000292929" "04214" "00399888" "00000" "Familial, autosomal recessive" "" "At the age of 25, the logMAR visual acuity for the right eye was 1.48. The autofluorescence type was described as a localized low signal at the macula surrounded by a heterogeneous background with numerous foci of abnormal signal. The size of the atrophy was 3.57mm^2." "16y" "" "The logMAR visual acuity for the right eye was 1. The autofluorescence type was described as a localized low signal at the macula surrounded by a heterogeneous background with numerous foci of abnormal signal. The size of the atrophy was 0.29mm^2." "" "" "" "" "" "" "Stargardt disease, type 1 (STGD1)" ""
"0000292930" "04214" "00399889" "00000" "Familial, autosomal recessive" "" "At the age of 30, the logMAR visual acuity for the left eye was 1. The autofluorescence type was described as a localized low signal at the macula surrounded by a heterogeneous background with numerous foci of abnormal signal. The size of the atrophy was 7.01mm^2." "11y" "" "The logMAR visual acuity for the left eye was 1. The autofluorescence type was described as a localized low signal at the macula surrounded by a heterogeneous background with numerous foci of abnormal signal. The size of the atrophy was 1.94mm^2." "" "" "" "" "" "" "Stargardt disease, type 1 (STGD1)" ""
"0000292931" "04214" "00399890" "00000" "Familial, autosomal recessive" "" "At the age of 57, the logMAR visual acuity for the right eye was 1.3. The autofluorescence type was described as a localized low signal at the macula surrounded by a heterogeneous background with numerous foci of abnormal signal. The size of the atrophy was 20.91mm^2." "37y" "" "The logMAR visual acuity for the right eye was 1.3. The autofluorescence type was described as a localized low signal at the macula surrounded by a heterogeneous background with numerous foci of abnormal signal. The size of the atrophy was 8.11mm^2." "" "" "" "" "" "" "Stargardt disease, type 1 (STGD1)" ""
"0000292932" "04214" "00399891" "00000" "Familial, autosomal recessive" "" "At the age of 29, the logMAR visual acuity for the right eye was 1. The autofluorescence type was described as a localized low signal at the macula surrounded by a heterogeneous background with numerous foci of abnormal signal. The size of the atrophy was 0.43mm^2." "26y" "" "The logMAR visual acuity for the right eye was 0.6. The autofluorescence type was described as a localized low signal at the macula surrounded by a heterogeneous background with numerous foci of abnormal signal. The size of the atrophy was <0.18mm^2." "" "" "" "" "" "" "Stargardt disease, type 1 (STGD1)" ""
"0000292933" "04214" "00399892" "00000" "Familial, autosomal recessive" "" "At the age of 37, the logMAR visual acuity for the right eye was 1.98. The autofluorescence type was described as a localized low signal at the macula surrounded by a heterogeneous background with numerous foci of abnormal signal. The size of the atrophy was 33.52mm^2." "23y" "" "The logMAR visual acuity for the right eye was 1.3. The autofluorescence type was described as a localized low signal at the macula surrounded by a heterogeneous background with numerous foci of abnormal signal. The size of the atrophy was 1.12mm^2." "" "" "" "" "" "" "Stargardt disease, type 1 (STGD1)" ""
"0000292934" "04214" "00399893" "00000" "Familial, autosomal recessive" "" "At the age of 47, the logMAR visual acuity for the right eye was 1.3. The autofluorescence type was described as a localized low signal at the macula surrounded by a heterogeneous background with numerous foci of abnormal signal. The size of the atrophy was 27.62mm^2." "33y" "" "The logMAR visual acuity for the right eye was 1. The autofluorescence type was described as a localized low signal at the macula surrounded by a heterogeneous background with numerous foci of abnormal signal. The size of the atrophy was 19.53mm^2." "" "" "" "" "" "" "Stargardt disease, type 1 (STGD1)" ""
"0000292935" "04214" "00399894" "00000" "Familial, autosomal recessive" "" "At the age of 16, the logMAR visual acuity for the right eye was 1. The autofluorescence type was described as a localized low signal at the macula surrounded by a heterogeneous background with numerous foci of abnormal signal. The size of the atrophy was 11.16mm^2." "8y" "" "The logMAR visual acuity for the right eye was 0.78. The autofluorescence type was described as a localized low signal at the macula surrounded by a heterogeneous background with numerous foci of abnormal signal. The size of the atrophy was 5.12mm^2." "" "" "" "" "" "" "Stargardt disease, type 1 (STGD1)" ""
"0000292936" "04214" "00399895" "00000" "Familial, autosomal recessive" "" "At the age of 40, the logMAR visual acuity for the left eye was 1. The autofluorescence type was described as a localized low signal at the macula surrounded by a heterogeneous background with numerous foci of abnormal signal. The size of the atrophy was 39.82mm^2." "7y" "" "The logMAR visual acuity for the left eye was 1. The autofluorescence type was described as a localized low signal at the macula surrounded by a heterogeneous background with numerous foci of abnormal signal. The size of the atrophy was 22.29mm^2." "" "" "" "" "" "" "Stargardt disease, type 1 (STGD1)" ""
"0000292937" "04214" "00399896" "00000" "Familial, autosomal recessive" "" "At the age of 29, the logMAR visual acuity for the left eye was 1.3. The autofluorescence type was described as a localized low signal at the macula surrounded by a heterogeneous background with numerous foci of abnormal signal. The size of the atrophy was 15.31mm^2." "5y" "" "The logMAR visual acuity for the left eye was 1.3. The autofluorescence type was described as a localized low signal at the macula surrounded by a heterogeneous background with numerous foci of abnormal signal. The size of the atrophy was 9.49mm^2." "" "" "" "" "" "" "Stargardt disease, type 1 (STGD1)" ""
"0000292938" "04214" "00399897" "00000" "Familial, autosomal recessive" "" "At the age of 32, the logMAR visual acuity for the left eye was 1.3. The autofluorescence type was described as a localized low signal at the macula surrounded by a heterogeneous background with numerous foci of abnormal signal. The size of the atrophy was 14.74mm^2." "11y" "" "The logMAR visual acuity for the left eye was 1.3. The autofluorescence type was described as a localized low signal at the macula surrounded by a heterogeneous background with numerous foci of abnormal signal. The size of the atrophy was 2.82mm^2." "" "" "" "" "" "" "Stargardt disease, type 1 (STGD1)" ""
"0000292939" "04214" "00399898" "00000" "Familial, autosomal recessive" "" "At the age of 17, the logMAR visual acuity for the right eye was 1.3. The autofluorescence type was described as multiple low signal areas at the posterior pole with a heterogeneous background. The size of the atrophy was BSmm^2." "7y" "" "The logMAR visual acuity for the right eye was 1.3. The autofluorescence type was described as a localized low signal at the macula surrounded by a heterogeneous background with numerous foci of abnormal signal. The size of the atrophy was 1.26mm^2." "" "" "" "" "" "" "Stargardt disease, type 1 (STGD1)" ""
"0000292940" "04214" "00399899" "00000" "Familial, autosomal recessive" "" "At the age of 40, the logMAR visual acuity for the right eye was 1. The autofluorescence type was described as multiple low signal areas at the posterior pole with a heterogeneous background. The size of the atrophy was 20.4mm^2." "28y" "" "The logMAR visual acuity for the right eye was 0.48. The autofluorescence type was described as a localized low signal at the macula surrounded by a heterogeneous background with numerous foci of abnormal signal. The size of the atrophy was 6.41mm^2." "" "" "" "" "" "" "Stargardt disease, type 1 (STGD1)" ""
"0000292941" "04214" "00399900" "00000" "Familial, autosomal recessive" "" "At the age of 55, the logMAR visual acuity for the left eye was 1.78. The autofluorescence type was described as multiple low signal areas at the posterior pole with a heterogeneous background. The size of the atrophy was BSmm^2." "8y" "" "The logMAR visual acuity for the left eye was 1.78. The autofluorescence type was described as multiple low signal areas at the posterior pole with a heterogeneous background. The size of the atrophy was BSmm^2." "" "" "" "" "" "" "Stargardt disease, type 1 (STGD1)" ""
"0000292942" "04214" "00399901" "00000" "Familial, autosomal recessive" "" "At the age of 37, the logMAR visual acuity for the right eye was 1. The autofluorescence type was described as multiple low signal areas at the posterior pole with a heterogeneous background. The size of the atrophy was 62.58mm^2." "10y" "" "The logMAR visual acuity for the right eye was 1. The autofluorescence type was described as multiple low signal areas at the posterior pole with a heterogeneous background. The size of the atrophy was 27.23mm^2." "" "" "" "" "" "" "Stargardt disease, type 1 (STGD1)" ""
"0000292943" "04214" "00399902" "00000" "Familial, autosomal recessive" "" "At the age of 17, BCVA: 20/200. Fundus findings: Fundus flavimaculatus, peripapillary atrophy. Color vision: R-degreen deficiency. Visual Field Findings: Relative central scotoma. Fluorescein Angiography Findings: Dark choroid. Fundus Autofluorescence Findings: Not performed. Full-Field ERG Rod function: normal. Full-Field ERG Cone function: Reduced. At the age of 40, The BCVA was 2/200, Fundus findings: Central and peripheral chorioretinal atrophy with bone spicules Color vision: Not performedVisual Field Findings: Absolute central scotoma. Fluorescein Angiography Findings: Not performed. Fundus Autofluorescence Findings: Not performed. Full-Field ERG Rod function: nonrecordable. Full-Field ERG Cone function: nonrecordable." "14y" "" "Decreased visual acuity" "" "" "" "" "" "" "Stargardt disease, type 1 (STGD1)" ""
"0000292944" "04214" "00399903" "00000" "Familial, autosomal recessive" "" "At the age of 6, BCVA: 20/100. Fundus findings: No (fishtail) flecks, hypopigmented juxtafoveal. Color vision: Not performed. Visual Field Findings: Not performed. Fluorescein Angiography Findings: Dark choroid. Fundus Autofluorescence Findings: Not performed. Full-Field ERG Rod function: normal. Full-Field ERG Cone function: Reduced. At the age of 17, The BCVA was 20/600, Fundus findings: Central to midperipheral atrophy Color vision: Not performedVisual Field Findings: Not performed. Fluorescein Angiography Findings: Not performed. Fundus Autofluorescence Findings: Hypoautofluorescent macula, with spotty hypoautofluorescence along vascular arcades. Full-Field ERG Rod function: nonrecordable. Full-Field ERG Cone function: nonrecordable." "6y" "" "Decreased visual acuity" "" "" "" "" "" "" "Stargardt disease, type 1 (STGD1)" ""
"0000292945" "04214" "00399904" "00000" "Familial, autosomal recessive" "" "At the age of 12, BCVA: 20/60. Fundus findings: Bulls-eye maculopathy with fundus flavimaculatus. Color vision: Panel D15: saturated version, normal; desaturated, B-Y defect. Visual Field Findings: Absolute central scotoma, with intact periphery (30 yrs). Fluorescein Angiography Findings: Not performed. Fundus Autofluorescence Findings: Not performed. Full-Field ERG Rod function: 12 yrs, mildly reduced; 25 yrs, mildly reduced. Full-Field ERG Cone function: 12 yrs, near normal; 25 yrs, significantly reduced. At the age of 42, The BCVA was 20/1000, Fundus findings: Large atrophic RPE lesions with hyperpigmentations in the posterior pole, hypopigmentations and hyperpigmentations in the periphery Color vision: Not performedVisual Field Findings: Absolute central scotoma with intact periphery. Fluorescein Angiography Findings: Not performed. Fundus Autofluorescence Findings: Central and peripheral large atrophic lesions. Full-Field ERG Rod function: nonrecordable. Full-Field ERG Cone function: nonrecordable." "12y" "" "Decreased visual acuity" "" "" "" "" "" "" "Stargardt disease, type 1 (STGD1)" ""
"0000292946" "04214" "00399905" "00000" "Familial, autosomal recessive" "" "At the age of 9, BCVA: 20/200. Fundus findings: Maculopathy. Color vision: Panel D15: saturated version, normal; desaturated version, diffusely abnormal; HRR mildly abnormal. Visual Field Findings: Unknown. Fluorescein Angiography Findings: Not performed. Fundus Autofluorescence Findings: Not performed. Full-Field ERG Rod function: normal. Full-Field ERG Cone function: Significantly reduced. At the age of 40, The BCVA was CF (-10D), Fundus findings: Pronounced atrophy posterior pole, atrophic lesions periphery with RPE alterations Color vision: Panel D15: saturated version, diffusely abnormalVisual Field Findings: Not performed. Fluorescein Angiography Findings: Not performed. Fundus Autofluorescence Findings: Not performed. Full-Field ERG Rod function: Severely reduced. Full-Field ERG Cone function: nonrecordable." "9y" "" "Decreased visual acuity" "" "" "" "" "" "" "Stargardt disease, type 1 (STGD1)" ""
"0000292947" "04214" "00399906" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease, type 1 (STGD1)" ""
"0000292948" "04214" "00399907" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease, type 1 (STGD1)" ""
"0000292949" "04214" "00399908" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease, type 1 (STGD1)" ""
"0000292950" "04214" "00399909" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease, type 1 (STGD1)" ""
"0000292951" "04214" "00399910" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease, type 1 (STGD1)" ""
"0000292952" "04214" "00399911" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease, type 1 (STGD1)" ""
"0000292953" "04214" "00399912" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease, type 1 (STGD1)" ""
"0000292954" "04214" "00399913" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease, type 1 (STGD1)" ""
"0000292955" "04214" "00399914" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease, type 1 (STGD1)" ""
"0000292956" "04214" "00399915" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease, type 1 (STGD1)" ""
"0000292957" "04214" "00399916" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease, type 1 (STGD1)" ""
"0000292958" "04214" "00399917" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease, type 1 (STGD1)" ""
"0000292959" "04214" "00399918" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease, type 1 (STGD1)" ""
"0000292960" "04214" "00399919" "00000" "Isolated (sporadic)" "" "Central scotoma with an central atrophic retinal lesion, a dark choroid on fluorescein angiography and yellow white flecks." "10y" "" "decreased vision" "" "" "" "" "" "" "Stargardt disease, type 1 (STGD1)" ""
"0000292961" "04214" "00399920" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "Retinal dystrophy" ""
"0000292962" "04214" "00399921" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "Retinal dystrophy" ""
"0000292963" "04214" "00399922" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "Retinal dystrophy" ""
"0000292964" "04214" "00399923" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "Retinal dystrophy" ""
"0000292965" "04214" "00399924" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease, type 1 (STGD1)" ""
"0000292966" "04214" "00399925" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "Retinal dystrophy" ""
"0000292967" "04214" "00399926" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "Retinal dystrophy" ""
"0000292968" "04214" "00399927" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease, type 1 (STGD1)" ""
"0000292969" "04214" "00399928" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "Retinal dystrophy" ""
"0000292970" "04214" "00399929" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "Retinal dystrophy" ""
"0000292971" "04214" "00399930" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "Retinal dystrophy" ""
"0000292972" "04214" "00399931" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease, type 1 (STGD1)" ""
"0000292973" "04214" "00399932" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "Retinal dystrophy" ""
"0000292974" "04214" "00399933" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "Retinal dystrophy" ""
"0000292975" "04214" "00399934" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease, type 1 (STGD1)" ""
"0000292976" "04214" "00399935" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "Retinal dystrophy" ""
"0000292977" "04214" "00399936" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "Retinal dystrophy" ""
"0000292978" "04214" "00399937" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "Retinal dystrophy" ""
"0000292979" "04214" "00399938" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease, type 1 (STGD1)" ""
"0000292980" "04214" "00399939" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease, type 1 (STGD1)" ""
"0000292981" "04214" "00399940" "00000" "Isolated (sporadic)" "" "At the baseline age of 39, the right eye showed: ff-ERG based category 3. BCVA at baseline: 1.2 LogMAR. SqrtArea at baseline: 2.47 mm. SqrtArea Prog.rate: 0.55 mm/year. The left eye showed: ff-ERG based category --- . BCVA at baseline: --- LogMAR. SqrtArea at baseline: --- mm. SqrtArea Prog.rate: --- mm/year." "10y-45y" "" "first self reported symptom" "" "" "" "" "" "" "Stargardt disease, type 1 (STGD1)" ""
"0000292982" "04214" "00399941" "00000" "Isolated (sporadic)" "" "At the baseline age of 67, the right eye showed: ff-ERG based category 1. 0.1: 0.1 LogMAR. SqrtArea at baseline: 1.63 mm. SqrtArea Prog.rate: 0.17 mm/year. The left eye showed: ff-ERG based category 1. BCVA at baseline: 0 LogMAR. SqrtArea at baseline: 0.8 mm. SqrtArea Prog.rate: 0.23 mm/year." ">44y" "" "first self reported symptom" "" "" "" "" "" "" "Stargardt disease, type 1 (STGD1)" ""
"0000292983" "04214" "00399942" "00000" "Isolated (sporadic)" "" "At the baseline age of 23, the right eye showed: ff-ERG based category 3. : 1.3 LogMAR. SqrtArea at baseline: 2.02 mm. SqrtArea Prog.rate: 0 mm/year. The left eye showed: ff-ERG based category 3. BCVA at baseline: 1.4 LogMAR. SqrtArea at baseline: 2.99 mm. SqrtArea Prog.rate: 0.07 mm/year." "<11y" "" "first self reported symptom" "" "" "" "" "" "" "Stargardt disease, type 1 (STGD1)" ""
"0000292984" "04214" "00399943" "00000" "Isolated (sporadic)" "" "At the baseline age of 69, the right eye showed: ff-ERG based category 2. : 0.1 LogMAR. SqrtArea at baseline: 2.31 mm. SqrtArea Prog.rate: 0.57 mm/year. The left eye showed: ff-ERG based category --- . BCVA at baseline: --- LogMAR. SqrtArea at baseline: --- mm. SqrtArea Prog.rate: --- mm/year." ">44y" "" "first self reported symptom" "" "" "" "" "" "" "Stargardt disease, type 1 (STGD1)" ""
"0000292985" "04214" "00399944" "00000" "Isolated (sporadic)" "" "At the baseline age of 55, the right eye showed: ff-ERG based category 2. : 0.4 LogMAR. SqrtArea at baseline: 1.92 mm. SqrtArea Prog.rate: 0.25 mm/year. The left eye showed: ff-ERG based category 2. BCVA at baseline: 0.3 LogMAR. SqrtArea at baseline: 0.32 mm. SqrtArea Prog.rate: 0.3 mm/year." ">44y" "" "first self reported symptom" "" "" "" "" "" "" "Stargardt disease, type 1 (STGD1)" ""
"0000292986" "04214" "00399945" "00000" "Isolated (sporadic)" "" "At the baseline age of 47, the right eye showed: ff-ERG based category 3. : 0 LogMAR. SqrtArea at baseline: 3.33 mm. SqrtArea Prog.rate: -0.01 mm/year. The left eye showed: ff-ERG based category 3. BCVA at baseline: 0 LogMAR. SqrtArea at baseline: 2 mm. SqrtArea Prog.rate: 0.16 mm/year." "10y-45y" "" "first self reported symptom" "" "" "" "" "" "" "Stargardt disease, type 1 (STGD1)" ""
"0000292987" "04214" "00399946" "00000" "Isolated (sporadic)" "" "At the baseline age of 32, the right eye showed: ff-ERG based category 2. 1: 1 LogMAR. SqrtArea at baseline: 1.2 mm. SqrtArea Prog.rate: 0.3 mm/year. The left eye showed: ff-ERG based category 2. BCVA at baseline: 0.9 LogMAR. SqrtArea at baseline: 1.44 mm. SqrtArea Prog.rate: 0.26 mm/year." "10y-45y" "" "first self reported symptom" "" "" "" "" "" "" "Stargardt disease, type 1 (STGD1)" ""
"0000292988" "04214" "00399947" "00000" "Isolated (sporadic)" "" "At the baseline age of 30, the right eye showed: ff-ERG based category 2. 0.1: 0.1 LogMAR. SqrtArea at baseline: 0.86 mm. SqrtArea Prog.rate: 0.61 mm/year. The left eye showed: ff-ERG based category 2. BCVA at baseline: 0.2 LogMAR. SqrtArea at baseline: 0.89 mm. SqrtArea Prog.rate: 0.38 mm/year." "10y-45y" "" "first self reported symptom" "" "" "" "" "" "" "Stargardt disease, type 1 (STGD1)" ""
"0000292989" "04214" "00399948" "00000" "Isolated (sporadic)" "" "At the baseline age of 45, the right eye showed: ff-ERG based category 2. : 1 LogMAR. SqrtArea at baseline: 1.06 mm. SqrtArea Prog.rate: 0.01 mm/year. The left eye showed: ff-ERG based category 2. BCVA at baseline: 0 LogMAR. SqrtArea at baseline: 2.37 mm. SqrtArea Prog.rate: 0.24 mm/year." "10y-45y" "" "first self reported symptom" "" "" "" "" "" "" "Stargardt disease, type 1 (STGD1)" ""
"0000292990" "04214" "00399949" "00000" "Isolated (sporadic)" "" "At the baseline age of 27, the right eye showed: ff-ERG based category 2. : 0.2 LogMAR. SqrtArea at baseline: 0.26 mm. SqrtArea Prog.rate: 0.21 mm/year. The left eye showed: ff-ERG based category 2. BCVA at baseline: 0 LogMAR. SqrtArea at baseline: 0.27 mm. SqrtArea Prog.rate: 0.18 mm/year." "10y-45y" "" "first self reported symptom" "" "" "" "" "" "" "Stargardt disease, type 1 (STGD1)" ""
"0000292991" "04214" "00399950" "00000" "Isolated (sporadic)" "" "At the baseline age of 34, the right eye showed: ff-ERG based category 2. : 0 LogMAR. SqrtArea at baseline: 0.44 mm. SqrtArea Prog.rate: 0.16 mm/year. The left eye showed: ff-ERG based category 2. BCVA at baseline: 0.1 LogMAR. SqrtArea at baseline: 0.73 mm. SqrtArea Prog.rate: 0.23 mm/year." "10y-45y" "" "first self reported symptom" "" "" "" "" "" "" "Stargardt disease, type 1 (STGD1)" ""
"0000292992" "04214" "00399951" "00000" "Isolated (sporadic)" "" "At the baseline age of 61, the right eye showed: ff-ERG based category 1. : 0.2 LogMAR. SqrtArea at baseline: 0.24 mm. SqrtArea Prog.rate: 0.01 mm/year. The left eye showed: ff-ERG based category --- . BCVA at baseline: --- LogMAR. SqrtArea at baseline: --- mm. SqrtArea Prog.rate: --- mm/year." ">44y" "" "first self reported symptom" "" "" "" "" "" "" "Stargardt disease, type 1 (STGD1)" ""
"0000292993" "04214" "00399952" "00000" "Isolated (sporadic)" "" "At the baseline age of 71, the right eye showed: ff-ERG based category 2. : 0.3 LogMAR. SqrtArea at baseline: 2.28 mm. SqrtArea Prog.rate: 0.21 mm/year. The left eye showed: ff-ERG based category 2. BCVA at baseline: 0.3 LogMAR. SqrtArea at baseline: 2.82 mm. SqrtArea Prog.rate: 0.2 mm/year." ">44y" "" "first self reported symptom" "" "" "" "" "" "" "Stargardt disease, type 1 (STGD1)" ""
"0000292994" "04214" "00399953" "00000" "Isolated (sporadic)" "" "At the baseline age of 79, the right eye showed: ff-ERG based category 2. : 1.5 LogMAR. SqrtArea at baseline: 4.29 mm. SqrtArea Prog.rate: 0.12 mm/year. The left eye showed: ff-ERG based category 2. BCVA at baseline: 0.3 LogMAR. SqrtArea at baseline: 4.25 mm. SqrtArea Prog.rate: 0.13 mm/year." ">44y" "" "first self reported symptom" "" "" "" "" "" "" "Stargardt disease, type 1 (STGD1)" ""
"0000292995" "04214" "00399954" "00000" "Isolated (sporadic)" "" "At the baseline age of 40, the right eye showed: ff-ERG based category 2. : 0 LogMAR. SqrtArea at baseline: 1.82 mm. SqrtArea Prog.rate: 0.4 mm/year. The left eye showed: ff-ERG based category 2. BCVA at baseline: 0.1 LogMAR. SqrtArea at baseline: 1.73 mm. SqrtArea Prog.rate: 0.6 mm/year." "10y-45y" "" "first self reported symptom" "" "" "" "" "" "" "Stargardt disease, type 1 (STGD1)" ""
"0000292996" "04214" "00399955" "00000" "Isolated (sporadic)" "" "At the baseline age of 72, the right eye showed: ff-ERG based category 2. : 0.3 LogMAR. SqrtArea at baseline: 1.7 mm. SqrtArea Prog.rate: 0.24 mm/year. The left eye showed: ff-ERG based category 2. BCVA at baseline: 0.2 LogMAR. SqrtArea at baseline: 0.29 mm. SqrtArea Prog.rate: 0.3 mm/year." "10y-45y" "" "first self reported symptom" "" "" "" "" "" "" "Stargardt disease, type 1 (STGD1)" ""
"0000292997" "04214" "00399956" "00000" "Isolated (sporadic)" "" "At the baseline age of 37, the right eye showed: ff-ERG based category 2. 1.3: 1.3 LogMAR. SqrtArea at baseline: 2.65 mm. SqrtArea Prog.rate: 0.26 mm/year. The left eye showed: ff-ERG based category 2. BCVA at baseline: 1.3 LogMAR. SqrtArea at baseline: 2.6 mm. SqrtArea Prog.rate: 0.28 mm/year." "10y-45y" "" "first self reported symptom" "" "" "" "" "" "" "Stargardt disease, type 1 (STGD1)" ""
"0000292998" "04214" "00399957" "00000" "Isolated (sporadic)" "" "At the baseline age of 39, the right eye showed: ff-ERG based category 1. : 0.9 LogMAR. SqrtArea at baseline: 1.76 mm. SqrtArea Prog.rate: 0.11 mm/year. The left eye showed: ff-ERG based category 1. BCVA at baseline: 0.9 LogMAR. SqrtArea at baseline: 1.24 mm. SqrtArea Prog.rate: 0.04 mm/year." "10y-45y" "" "first self reported symptom" "" "" "" "" "" "" "Stargardt disease, type 1 (STGD1)" ""
"0000292999" "04214" "00399958" "00000" "Isolated (sporadic)" "" "At the baseline age of 14, the right eye showed: ff-ERG based category 2. : 1 LogMAR. SqrtArea at baseline: 1.27 mm. SqrtArea Prog.rate: 0.05 mm/year. The left eye showed: ff-ERG based category 2. BCVA at baseline: 1 LogMAR. SqrtArea at baseline: 1.21 mm. SqrtArea Prog.rate: 0.05 mm/year." "<11y" "" "first self reported symptom" "" "" "" "" "" "" "Stargardt disease, type 1 (STGD1)" ""
"0000293000" "04214" "00399959" "00000" "Isolated (sporadic)" "" "At the baseline age of 18, the right eye showed: ff-ERG based category 2. : 1.1 LogMAR. SqrtArea at baseline: 1.2 mm. SqrtArea Prog.rate: 0.24 mm/year. The left eye showed: ff-ERG based category 2. BCVA at baseline: 1 LogMAR. SqrtArea at baseline: 1.24 mm. SqrtArea Prog.rate: 0.09 mm/year." "<11y" "" "first self reported symptom" "" "" "" "" "" "" "Stargardt disease, type 1 (STGD1)" ""
"0000293001" "04214" "00399960" "00000" "Isolated (sporadic)" "" "At the baseline age of 49, the right eye showed: ff-ERG based category 1. : 0.3 LogMAR. SqrtArea at baseline: 0.26 mm. SqrtArea Prog.rate: 0.12 mm/year. The left eye showed: ff-ERG based category 1. BCVA at baseline: 0.2 LogMAR. SqrtArea at baseline: 0.28 mm. SqrtArea Prog.rate: 0.08 mm/year." "10y-45y" "" "first self reported symptom" "" "" "" "" "" "" "Stargardt disease, type 1 (STGD1)" ""
"0000293002" "04214" "00399961" "00000" "Isolated (sporadic)" "" "At the baseline age of 32, the right eye showed: ff-ERG based category 2. 0.2: 0.2 LogMAR. SqrtArea at baseline: 2.13 mm. SqrtArea Prog.rate: 0.23 mm/year. The left eye showed: ff-ERG based category 2. BCVA at baseline: 1.5 LogMAR. SqrtArea at baseline: 1.21 mm. SqrtArea Prog.rate: 0.3 mm/year." "10y-45y" "" "first self reported symptom" "" "" "" "" "" "" "Stargardt disease, type 1 (STGD1)" ""
"0000293003" "04214" "00399962" "00000" "Isolated (sporadic)" "" "At the baseline age of 68, the right eye showed: ff-ERG based category 2. : 0 LogMAR. SqrtArea at baseline: 3.12 mm. SqrtArea Prog.rate: 0.28 mm/year. The left eye showed: ff-ERG based category 2. BCVA at baseline: 0 LogMAR. SqrtArea at baseline: 1.73 mm. SqrtArea Prog.rate: 0.33 mm/year." ">44y" "" "first self reported symptom" "" "" "" "" "" "" "Stargardt disease, type 1 (STGD1)" ""
"0000293004" "04214" "00399963" "00000" "Isolated (sporadic)" "" "At the baseline age of 53, the right eye showed: ff-ERG based category 1. : 0.8 LogMAR. SqrtArea at baseline: 0.62 mm. SqrtArea Prog.rate: 0.07 mm/year. The left eye showed: ff-ERG based category 1. BCVA at baseline: 1.2 LogMAR. SqrtArea at baseline: 0.51 mm. SqrtArea Prog.rate: 0.11 mm/year." ">44y" "" "first self reported symptom" "" "" "" "" "" "" "Stargardt disease, type 1 (STGD1)" ""
"0000293005" "04214" "00399964" "00000" "Isolated (sporadic)" "" "At the baseline age of 44, the right eye showed: ff-ERG based category 3. : 1 LogMAR. SqrtArea at baseline: 2.12 mm. SqrtArea Prog.rate: 0.27 mm/year. The left eye showed: ff-ERG based category 3. BCVA at baseline: 1 LogMAR. SqrtArea at baseline: 1.85 mm. SqrtArea Prog.rate: 0.25 mm/year." "10y-45y" "" "first self reported symptom" "" "" "" "" "" "" "Stargardt disease, type 1 (STGD1)" ""
"0000293006" "04214" "00399965" "00000" "Isolated (sporadic)" "" "At the baseline age of 20, the right eye showed: ff-ERG based category 2. 1: 1 LogMAR. SqrtArea at baseline: 0.8 mm. SqrtArea Prog.rate: 0.11 mm/year. The left eye showed: ff-ERG based category 2. BCVA at baseline: 1 LogMAR. SqrtArea at baseline: 1.14 mm. SqrtArea Prog.rate: 0.1 mm/year." "<11y" "" "first self reported symptom" "" "" "" "" "" "" "Stargardt disease, type 1 (STGD1)" ""
"0000293007" "04214" "00399966" "00000" "Isolated (sporadic)" "" "At the baseline age of 50, the right eye showed: ff-ERG based category 2. : 0.3 LogMAR. SqrtArea at baseline: 0.61 mm. SqrtArea Prog.rate: 0.09 mm/year. The left eye showed: ff-ERG based category 2. BCVA at baseline: 0.3 LogMAR. SqrtArea at baseline: 0.39 mm. SqrtArea Prog.rate: 0.01 mm/year." ">44y" "" "first self reported symptom" "" "" "" "" "" "" "Stargardt disease, type 1 (STGD1)" ""
"0000293008" "04214" "00399967" "00000" "Isolated (sporadic)" "" "At the baseline age of 35, the right eye showed: ff-ERG based category 1. : 0.4 LogMAR. SqrtArea at baseline: 0.49 mm. SqrtArea Prog.rate: 0.04 mm/year. The left eye showed: ff-ERG based category 1. BCVA at baseline: 0.5 LogMAR. SqrtArea at baseline: 0.4 mm. SqrtArea Prog.rate: 0.12 mm/year." "10y-45y" "" "first self reported symptom" "" "" "" "" "" "" "Stargardt disease, type 1 (STGD1)" ""
"0000293009" "04214" "00399968" "00000" "Isolated (sporadic)" "" "At the baseline age of 27, the right eye showed: ff-ERG based category 3. : 1.6 LogMAR. SqrtArea at baseline: 3.91 mm. SqrtArea Prog.rate: 0.2 mm/year. The left eye showed: ff-ERG based category 3. BCVA at baseline: 1.5 LogMAR. SqrtArea at baseline: 1.68 mm. SqrtArea Prog.rate: 0.26 mm/year." "<11y" "" "first self reported symptom" "" "" "" "" "" "" "Stargardt disease, type 1 (STGD1)" ""
"0000293010" "04214" "00399969" "00000" "Isolated (sporadic)" "" "At the baseline age of 50, the right eye showed: ff-ERG based category 1. 0.9: 0.9 LogMAR. SqrtArea at baseline: 0.4 mm. SqrtArea Prog.rate: 0.31 mm/year. The left eye showed: ff-ERG based category 1. BCVA at baseline: 1 LogMAR. SqrtArea at baseline: 0.52 mm. SqrtArea Prog.rate: 0.14 mm/year." "10y-45y" "" "first self reported symptom" "" "" "" "" "" "" "Stargardt disease, type 1 (STGD1)" ""
"0000293011" "04214" "00399970" "00000" "Isolated (sporadic)" "" "At the baseline age of 55, the right eye showed: ff-ERG based category 1. : 0.1 LogMAR. SqrtArea at baseline: 0.48 mm. SqrtArea Prog.rate: 0.05 mm/year. The left eye showed: ff-ERG based category 1. BCVA at baseline: 0.1 LogMAR. SqrtArea at baseline: 1.9 mm. SqrtArea Prog.rate: 0.04 mm/year." ">44y" "" "first self reported symptom" "" "" "" "" "" "" "Stargardt disease, type 1 (STGD1)" ""
"0000293012" "04214" "00399971" "00000" "Isolated (sporadic)" "" "At the baseline age of 60, the right eye showed: ff-ERG based category 2. 0: 0 LogMAR. SqrtArea at baseline: 1.94 mm. SqrtArea Prog.rate: 0.29 mm/year. The left eye showed: ff-ERG based category 2. BCVA at baseline: 0 LogMAR. SqrtArea at baseline: 1.61 mm. SqrtArea Prog.rate: 0.29 mm/year." ">44y" "" "first self reported symptom" "" "" "" "" "" "" "Stargardt disease, type 1 (STGD1)" ""
"0000293013" "04214" "00399972" "00000" "Isolated (sporadic)" "" "At the baseline age of 64, the right eye showed: ff-ERG based category 2. : 0.4 LogMAR. SqrtArea at baseline: 4.02 mm. SqrtArea Prog.rate: 0.33 mm/year. The left eye showed: ff-ERG based category 2. BCVA at baseline: 1.1 LogMAR. SqrtArea at baseline: 4.14 mm. SqrtArea Prog.rate: 0.23 mm/year." ">44y" "" "first self reported symptom" "" "" "" "" "" "" "Stargardt disease, type 1 (STGD1)" ""
"0000293014" "04214" "00399973" "00000" "Isolated (sporadic)" "" "At the baseline age of 61, the right eye showed: ff-ERG based category --- . : --- LogMAR. SqrtArea at baseline: --- mm. SqrtArea Prog.rate: --- mm/year. The left eye showed: ff-ERG based category 3. BCVA at baseline: 1 LogMAR. SqrtArea at baseline: 4.87 mm. SqrtArea Prog.rate: 0.22 mm/year." "10y-45y" "" "first self reported symptom" "" "" "" "" "" "" "Stargardt disease, type 1 (STGD1)" ""
"0000293015" "04214" "00399974" "00000" "Isolated (sporadic)" "" "At the baseline age of 39, the right eye showed: ff-ERG based category 2. 1: 1 LogMAR. SqrtArea at baseline: 0.76 mm. SqrtArea Prog.rate: 0.02 mm/year. The left eye showed: ff-ERG based category 2. BCVA at baseline: 0.4 LogMAR. SqrtArea at baseline: 0.38 mm. SqrtArea Prog.rate: 0.06 mm/year." "10y-45y" "" "first self reported symptom" "" "" "" "" "" "" "Stargardt disease, type 1 (STGD1)" ""
"0000293016" "04214" "00399975" "00000" "Isolated (sporadic)" "" "At the baseline age of 46, the right eye showed: ff-ERG based category --- . : --- LogMAR. SqrtArea at baseline: --- mm. SqrtArea Prog.rate: --- mm/year. The left eye showed: ff-ERG based category 2. BCVA at baseline: 0.3 LogMAR. SqrtArea at baseline: 0.25 mm. SqrtArea Prog.rate: 0.13 mm/year." "10y-45y" "" "first self reported symptom" "" "" "" "" "" "" "Stargardt disease, type 1 (STGD1)" ""
"0000293017" "04214" "00399976" "00000" "Isolated (sporadic)" "" "At the baseline age of 60, the right eye showed: ff-ERG based category --- . : --- LogMAR. SqrtArea at baseline: --- mm. SqrtArea Prog.rate: --- mm/year. The left eye showed: ff-ERG based category 2. BCVA at baseline: 0 LogMAR. SqrtArea at baseline: 1.7 mm. SqrtArea Prog.rate: 0.17 mm/year." ">44y" "" "first self reported symptom" "" "" "" "" "" "" "Stargardt disease, type 1 (STGD1)" ""
"0000293018" "04214" "00399977" "00000" "Isolated (sporadic)" "" "At the baseline age of 45, the right eye showed: ff-ERG based category 2. : 0 LogMAR. SqrtArea at baseline: 1.19 mm. SqrtArea Prog.rate: 0.43 mm/year. The left eye showed: ff-ERG based category 2. BCVA at baseline: 0 LogMAR. SqrtArea at baseline: 1 mm. SqrtArea Prog.rate: 0.26 mm/year." "10y-45y" "" "first self reported symptom" "" "" "" "" "" "" "Stargardt disease, type 1 (STGD1)" ""
"0000293019" "04214" "00399978" "00000" "Isolated (sporadic)" "" "At the age of 77, the visual acuity OD was CF and OS was 20/60. The fundus appearance and fundus autofluorescence showed: Well defined new vessels and PED." "75y" "" "onset of symptoms" "" "" "" "" "" "" "Age-related macular degeneration (AMD)" ""
"0000293020" "04214" "00399979" "00000" "Isolated (sporadic)" "" "At the age of 75, the visual acuity OD was 20/100 and OS was 20/200. The fundus appearance and fundus autofluorescence showed: Well defined new vessels." "70y" "" "onset of symptoms" "" "" "" "" "" "" "Age-related macular degeneration (AMD)" ""
"0000293021" "04214" "00399980" "00000" "Isolated (sporadic)" "" "At the age of 65, the visual acuity OD was 20/60 and OS was 20/25. The fundus appearance and fundus autofluorescence showed: Occult new vessels." "63y" "" "onset of symptoms" "" "" "" "" "" "" "Age-related macular degeneration (AMD)" ""
"0000293022" "04214" "00399981" "00000" "Isolated (sporadic)" "" "At the age of 61, the visual acuity OD was 20/20 and OS was 20/25. The fundus appearance and fundus autofluorescence showed: Large confluent drusen." ">61y" "" "onset of symptoms" "" "" "" "" "" "" "Age-related macular degeneration (AMD)" ""
"0000293023" "04214" "00399982" "00000" "Isolated (sporadic)" "" "Dry form of AMD" "" "" "" "" "" "" "" "" "" "Age-related macular degeneration (AMD)" ""
"0000293024" "04214" "00399983" "00000" "Isolated (sporadic)" "" "Dry form of AMD" "" "" "" "" "" "" "" "" "" "Age-related macular degeneration (AMD)" ""
"0000293025" "04214" "00399984" "00000" "Isolated (sporadic)" "" "Dry form of AMD" "" "" "" "" "" "" "" "" "" "Age-related macular degeneration (AMD)" ""
"0000293026" "04214" "00399985" "00000" "Isolated (sporadic)" "" "Wet form of AMD" "" "" "" "" "" "" "" "" "" "Age-related macular degeneration (AMD)" ""
"0000293027" "04214" "00399986" "00000" "Isolated (sporadic)" "" "Dry form of AMD" "" "" "" "" "" "" "" "" "" "Age-related macular degeneration (AMD)" ""
"0000293028" "04214" "00399987" "00000" "Isolated (sporadic)" "" "Wet form of AMD" "" "" "" "" "" "" "" "" "" "Age-related macular degeneration (AMD)" ""
"0000293029" "04214" "00399988" "00000" "Isolated (sporadic)" "" "Wet form of AMD" "" "" "" "" "" "" "" "" "" "Age-related macular degeneration (AMD)" ""
"0000293030" "04214" "00399989" "00000" "Isolated (sporadic)" "" "Dry form of AMD" "" "" "" "" "" "" "" "" "" "Age-related macular degeneration (AMD)" ""
"0000293031" "04214" "00399990" "00000" "Isolated (sporadic)" "" "Wet form of AMD" "" "" "" "" "" "" "" "" "" "Age-related macular degeneration (AMD)" ""
"0000293032" "04214" "00399991" "00000" "Isolated (sporadic)" "" "Dry form of AMD" "" "" "" "" "" "" "" "" "" "Age-related macular degeneration (AMD)" ""
"0000293033" "04214" "00399992" "00000" "Isolated (sporadic)" "" "Wet form of AMD" "" "" "" "" "" "" "" "" "" "Age-related macular degeneration (AMD)" ""
"0000293034" "04214" "00399993" "00000" "Isolated (sporadic)" "" "Dry form of AMD" "" "" "" "" "" "" "" "" "" "Age-related macular degeneration (AMD)" ""
"0000293035" "04214" "00399994" "00000" "Isolated (sporadic)" "" "Wet form of AMD" "" "" "" "" "" "" "" "" "" "Age-related macular degeneration (AMD)" ""
"0000293036" "04214" "00399995" "00000" "Isolated (sporadic)" "" "Dry form of AMD" "" "" "" "" "" "" "" "" "" "Age-related macular degeneration (AMD)" ""
"0000293037" "04214" "00399996" "00000" "Isolated (sporadic)" "" "Wet form of AMD" "" "" "" "" "" "" "" "" "" "Age-related macular degeneration (AMD)" ""
"0000293038" "04214" "00399997" "00000" "Isolated (sporadic)" "" "Dry form of AMD" "" "" "" "" "" "" "" "" "" "Age-related macular degeneration (AMD)" ""
"0000293039" "04214" "00399998" "00000" "Isolated (sporadic)" "" "Wet form of AMD" "" "" "" "" "" "" "" "" "" "Age-related macular degeneration (AMD)" ""
"0000293040" "04214" "00399999" "00000" "Isolated (sporadic)" "" "Dry form of AMD" "" "" "" "" "" "" "" "" "" "Age-related macular degeneration (AMD)" ""
"0000293041" "04214" "00400000" "00000" "Isolated (sporadic)" "" "Wet form of AMD" "" "" "" "" "" "" "" "" "" "Age-related macular degeneration (AMD)" ""
"0000293042" "04214" "00400001" "00000" "Isolated (sporadic)" "" "Wet form of AMD" "" "" "" "" "" "" "" "" "" "Age-related macular degeneration (AMD)" ""
"0000293043" "04214" "00400002" "00000" "Isolated (sporadic)" "" "Wet form of AMD" "" "" "" "" "" "" "" "" "" "Age-related macular degeneration (AMD)" ""
"0000293044" "04214" "00400003" "00000" "Isolated (sporadic)" "" "Dry form of AMD" "" "" "" "" "" "" "" "" "" "Age-related macular degeneration (AMD)" ""
"0000293045" "04214" "00400004" "00000" "Isolated (sporadic)" "" "Dry form of AMD" "" "" "" "" "" "" "" "" "" "Age-related macular degeneration (AMD)" ""
"0000293046" "04214" "00400005" "00000" "Isolated (sporadic)" "" "Dry form of AMD" "" "" "" "" "" "" "" "" "" "Age-related macular degeneration (AMD)" ""
"0000293047" "04214" "00400006" "00000" "Isolated (sporadic)" "" "Dry form of AMD" "" "" "" "" "" "" "" "" "" "Age-related macular degeneration (AMD)" ""
"0000293048" "04214" "00400007" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "Age-related macular degeneration (AMD)" ""
"0000293049" "04214" "00400008" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "Age-related macular degeneration (AMD)" ""
"0000293050" "04214" "00400009" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "Age-related macular degeneration (AMD)" ""
"0000293051" "04214" "00400010" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "Age-related macular degeneration (AMD)" ""
"0000293052" "04214" "00400011" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "Age-related macular degeneration (AMD)" ""
"0000293053" "04214" "00400012" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "Age-related macular degeneration (AMD)" ""
"0000293054" "04214" "00400013" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "Age-related macular degeneration (AMD)" ""
"0000293055" "04214" "00400014" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "Age-related macular degeneration (AMD)" ""
"0000293056" "04214" "00400015" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "Age-related macular degeneration (AMD)" ""
"0000293057" "04214" "00400016" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "Age-related macular degeneration (AMD)" ""
"0000293058" "04214" "00400017" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "Age-related macular degeneration (AMD)" ""
"0000293059" "04214" "00400018" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "Age-related macular degeneration (AMD)" ""
"0000293060" "04214" "00400019" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "Age-related macular degeneration (AMD)" ""
"0000293061" "04214" "00400020" "00000" "Isolated (sporadic)" "50y" "AMD with widespread areas with increased FAF in the perilesional zone of areas with geographic atrophy in a pattern with fine granular with peripheral punctate spots." "" "" "" "" "" "" "" "" "" "Age-related macular degeneration (AMD)" ""
"0000293062" "04214" "00400021" "00000" "Isolated (sporadic)" "50y" "AMD with widespread areas with increased FAF in the perilesional zone of areas with geographic atrophy in a pattern with fine granular with peripheral punctate spots." "" "" "" "" "" "" "" "" "" "Age-related macular degeneration (AMD)" ""
"0000293063" "04214" "00400022" "00000" "Isolated (sporadic)" "53y" "AMD with widespread areas with increased FAF in the perilesional zone of areas with geographic atrophy in a pattern with fine granular with peripheral punctate spots." "" "" "" "" "" "" "" "" "" "Age-related macular degeneration (AMD)" ""
"0000293064" "04214" "00400023" "00000" "Isolated (sporadic)" "56y" "AMD with widespread areas with increased FAF in the perilesional zone of areas with geographic atrophy in a pattern with fine granular with peripheral punctate spots." "" "" "" "" "" "" "" "" "" "Age-related macular degeneration (AMD)" ""
"0000293065" "04214" "00400024" "00000" "Isolated (sporadic)" "56y" "AMD with widespread areas with increased FAF in the perilesional zone of areas with geographic atrophy in a pattern with fine granular with peripheral punctate spots." "" "" "" "" "" "" "" "" "" "Age-related macular degeneration (AMD)" ""
"0000293066" "04214" "00400025" "00000" "Isolated (sporadic)" "59y" "AMD with widespread areas with increased FAF in the perilesional zone of areas with geographic atrophy in a pattern with fine granular with peripheral punctate spots." "" "" "" "" "" "" "" "" "" "Age-related macular degeneration (AMD)" ""
"0000293067" "04214" "00400026" "00000" "Isolated (sporadic)" "64y" "AMD with widespread areas with increased FAF in the perilesional zone of areas with geographic atrophy in a pattern with fine granular with peripheral punctate spots." "" "" "" "" "" "" "" "" "" "Age-related macular degeneration (AMD)" ""
"0000293068" "04214" "00400027" "00000" "Isolated (sporadic)" "65y" "AMD with widespread areas with increased FAF in the perilesional zone of areas with geographic atrophy in a pattern with fine granular with peripheral punctate spots." "" "" "" "" "" "" "" "" "" "Age-related macular degeneration (AMD)" ""
"0000293069" "04214" "00400028" "00000" "Isolated (sporadic)" "77y" "AMD with widespread areas with increased FAF in the perilesional zone of areas with geographic atrophy in a pattern with fine granular with peripheral punctate spots." "" "" "" "" "" "" "" "" "" "Age-related macular degeneration (AMD)" ""
"0000293070" "04214" "00400029" "00000" "Isolated (sporadic)" "81y" "AMD with widespread areas with increased FAF in the perilesional zone of areas with geographic atrophy in a pattern with fine granular with peripheral punctate spots." "" "" "" "" "" "" "" "" "" "Age-related macular degeneration (AMD)" ""
"0000293071" "04214" "00400030" "00000" "Isolated (sporadic)" "84y" "AMD with widespread areas with increased FAF in the perilesional zone of areas with geographic atrophy in a pattern with fine granular with peripheral punctate spots." "" "" "" "" "" "" "" "" "" "Age-related macular degeneration (AMD)" ""
"0000293072" "04214" "00400031" "00000" "Isolated (sporadic)" "69y" "AMD with widespread areas with increased FAF in the perilesional zone of areas with geographic atrophy in a pattern with fine granular with peripheral punctate spots." "" "" "" "" "" "" "" "" "" "Age-related macular degeneration (AMD)" ""
"0000293073" "04214" "00400032" "00000" "Isolated (sporadic)" "60y" "AMD with widespread areas with increased FAF in the perilesional zone of areas with geographic atrophy in a pattern with fine granular with peripheral punctate spots." "" "" "" "" "" "" "" "" "" "Age-related macular degeneration (AMD)" ""
"0000293074" "04214" "00400033" "00000" "Isolated (sporadic)" "68y" "AMD with widespread areas with increased FAF in the perilesional zone of areas with geographic atrophy in a pattern with fine granular with peripheral punctate spots." "" "" "" "" "" "" "" "" "" "Age-related macular degeneration (AMD)" ""
"0000293075" "04214" "00400034" "00000" "Isolated (sporadic)" "50y" "AMD with widespread areas with increased FAF in the perilesional zone of areas with geographic atrophy in a pattern with fine granular with peripheral punctate spots." "" "" "" "" "" "" "" "" "" "Age-related macular degeneration (AMD)" ""
"0000293076" "04214" "00400035" "00000" "Isolated (sporadic)" "60y" "AMD with widespread areas with increased FAF in the perilesional zone of areas with geographic atrophy in a pattern with fine granular with peripheral punctate spots." "" "" "" "" "" "" "" "" "" "Age-related macular degeneration (AMD)" ""
"0000293077" "04214" "00400036" "00000" "Isolated (sporadic)" "54y" "AMD with widespread areas with increased FAF in the perilesional zone of areas with geographic atrophy in a pattern with fine granular with peripheral punctate spots." "" "" "" "" "" "" "" "" "" "Age-related macular degeneration (AMD)" ""
"0000293078" "04214" "00400037" "00000" "Isolated (sporadic)" "79y" "AMD" "" "" "" "" "" "" "" "" "" "Age-related macular degeneration (AMD)" ""
"0000293079" "04214" "00400038" "00000" "Isolated (sporadic)" "75y" "AMD with geographic atrophy" "" "" "" "" "" "" "" "" "" "Age-related macular degeneration (AMD)" ""
"0000293080" "04214" "00400039" "00000" "Isolated (sporadic)" "66y" "AMD with geographic atrophy" "" "" "" "" "" "" "" "" "" "Age-related macular degeneration (AMD)" ""
"0000293081" "04214" "00400040" "00000" "Isolated (sporadic)" "75y" "AMD with geographic atrophy" "" "" "" "" "" "" "" "" "" "Age-related macular degeneration (AMD)" ""
"0000293082" "04214" "00400041" "00000" "Isolated (sporadic)" "46y" "" "" "" "" "" "" "" "" "" "" "Stargardt disease, type 1 (STGD1)" ""
"0000293083" "04214" "00400042" "00000" "Isolated (sporadic)" "29y" "" "" "" "" "" "" "" "" "" "" "Stargardt disease, type 1 (STGD1)" ""
"0000293084" "04214" "00400043" "00000" "Isolated (sporadic)" "52y" "" "" "" "" "" "" "" "" "" "" "Stargardt disease, type 1 (STGD1)" ""
"0000293085" "04214" "00400044" "00000" "Isolated (sporadic)" "31y" "" "" "" "" "" "" "" "" "" "" "Stargardt disease, type 1 (STGD1)" ""
"0000293086" "04214" "00400045" "00000" "Isolated (sporadic)" "14y" "" "" "" "" "" "" "" "" "" "" "Stargardt disease, type 1 (STGD1)" ""
"0000293087" "04214" "00400046" "00000" "Isolated (sporadic)" "10y" "" "" "" "" "" "" "" "" "" "" "Stargardt disease, type 1 (STGD1)" ""
"0000293088" "04214" "00400047" "00000" "Isolated (sporadic)" "35y" "" "" "" "" "" "" "" "" "" "" "Stargardt disease, type 1 (STGD1)" ""
"0000293089" "04214" "00400048" "00000" "Isolated (sporadic)" "35y" "" "" "" "" "" "" "" "" "" "" "Stargardt disease, type 1 (STGD1)" ""
"0000293090" "04214" "00400049" "00000" "Isolated (sporadic)" "64y" "" "" "" "" "" "" "" "" "" "" "Stargardt disease, type 1 (STGD1)" ""
"0000293091" "04214" "00400050" "00000" "Isolated (sporadic)" "39y" "" "" "" "" "" "" "" "" "" "" "Stargardt disease, type 1 (STGD1)" ""
"0000293092" "04214" "00400051" "00000" "Isolated (sporadic)" "36y" "" "" "" "" "" "" "" "" "" "" "Stargardt disease, type 1 (STGD1)" ""
"0000293093" "04214" "00400052" "00000" "Isolated (sporadic)" "33y" "" "" "" "" "" "" "" "" "" "" "Stargardt disease, type 1 (STGD1)" ""
"0000293094" "04214" "00400053" "00000" "Isolated (sporadic)" "53y" "" "" "" "" "" "" "" "" "" "" "Stargardt disease, type 1 (STGD1)" ""
"0000298502" "04214" "00406003" "00000" "Unknown" "" "CME and mild mottling of the foveal retinal pigment epithelium in both eyes, foveal cystoid abnormalities in the inner and outer retina with secondary mild retinal thickening, coarse retinal lamination, and scattered central ellipsoid zone defects in both eyes" "" "" "" "" "" "" "" "" "" "Cystoid macular edema (CME)" ""
"0000298503" "04214" "00406004" "00000" "Unknown" "" "est-corrected visual acuity of 20/50 Ouwith more extensive cystoid abnormalities on optical coherence tomography" "" "" "" "" "" "" "" "" "" "Cystoid macular edema (CME)" ""
"0000300215" "04214" "00408087" "00000" "Familial, autosomal recessive" "3y" "3 years old female child was born at term with an uncomplicated perinatal course. At the age of 4 months she was noticed to be unable to fixate. Ophthalmological evaluation demonstrated alternating esotropia, myopia, and macular scars. She used eyeglasses since 8 months of age. She also had developmental delay, hypotonia, feeding difficulty, recurrent respiratory infection, and distinctive facial features (downslanting palpebral fissures and depressed nasal bridge). All her growth parameters were below the third percentiles. Brain MRI brain showed leukodystrophic changes. Her parents were cousins and she had one healthy brother." "" "" "" "" "" "" "" "" "Stargardt disease" "" ""
"0000300553" "04214" "00408437" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" "" ""
"0000300784" "00420" "00408664" "04300" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Stargardt disease, type 1" "" ""
"0000300785" "00420" "00408665" "04300" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "(STGD1)" "" ""
"0000300786" "00420" "00408666" "04300" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "(STGD1)" "" ""
"0000300787" "00420" "00408668" "04300" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "(STGD1)" "" ""
"0000300817" "00420" "00408669" "04300" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "(STGD1)" "" ""
"0000300818" "00420" "00408699" "04300" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "(STGD1)" "" ""
"0000300826" "00420" "00408707" "04300" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "(STGD1)" "" ""
"0000300827" "00420" "00408708" "04300" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "(STGD1)" "" ""
"0000300828" "00420" "00408709" "04300" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "(STGD1)" "" ""
"0000300829" "00420" "00408710" "04300" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "(STGD1)" "" ""
"0000300833" "00420" "00408714" "04300" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "(STGD1)" "" ""
"0000300834" "00420" "00408715" "04300" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "(STGD1)" "" ""
"0000300835" "00420" "00408716" "04300" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "(STGD1)" "" ""
"0000300836" "00420" "00408717" "04300" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "(STGD1)" "" ""
"0000300902" "00420" "00408783" "04300" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "(STGD1)" "" ""
"0000300903" "00420" "00408784" "04300" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "(STGD1)" "" ""
"0000300904" "00420" "00408785" "04300" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "(STGD1)" "" ""
"0000300905" "02387" "00408787" "04300" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "(RP19)" "" ""
"0000300906" "00421" "00408788" "04300" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "(CORD-3)" "" ""
"0000300907" "00420" "00408789" "04300" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "(STGD1)" "" ""
"0000300908" "00420" "00408790" "04300" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "(STGD1)" "" ""
"0000300909" "00420" "00408791" "04300" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "(STGD1)" "" ""
"0000302514" "04214" "00410411" "00000" "Unknown" "6y" "best corrected visual acuity right, left eye: 20/150, 20/200" "" "" "" "" "" "" "" "" "macular dystrophy" "" ""
"0000303110" "04214" "00411020" "00000" "Unknown" "9y" "" "" "" "" "" "" "" "" "" "" "enhanced S-cone syndrome (ESCS)" ""
"0000306271" "00198" "00414436" "00000" "Familial, autosomal recessive" "46y" "" "" "" "" "" "" "" "" "" "Stargardt Disease 1" "" ""
"0000310844" "00198" "00419563" "02300" "Familial, autosomal recessive" "25y" "" "" "" "" "" "" "" "" "" "" "ocular/auditory abnormality" ""
"0000310965" "04214" "00419685" "04405" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000310966" "04214" "00419686" "04405" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000310967" "04214" "00419687" "04405" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000310968" "04214" "00419688" "04405" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000310969" "04214" "00419689" "04405" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000311640" "04214" "00420392" "00000" "Familial, autosomal recessive" "22y10m" "" "13y" "" "" "" "" "" "" "" "macular dystrophy" "" ""
"0000311641" "04214" "00420393" "00000" "Familial, autosomal recessive" "59y2m" "" "13y" "" "" "" "" "" "" "" "retinitis pigmentosa" "" ""
"0000311658" "04214" "00420410" "00000" "Familial, autosomal recessive" "28y" "" "22y" "" "" "" "" "" "" "" "macular dystrophy" "" ""
"0000311670" "04214" "00420422" "00000" "Familial, autosomal recessive" "12y10m" "" "" "" "" "" "" "" "" "" "macular dystrophy" "" ""
"0000311671" "04214" "00420423" "00000" "Familial, autosomal recessive" "23y4m" "" "5y" "" "" "" "" "" "" "" "macular dystrophy" "" ""
"0000311677" "04214" "00420429" "00000" "Familial, autosomal recessive" "52y5m" "" "50y" "" "" "" "" "" "" "" "macular dystrophy" "" ""
"0000311678" "04214" "00420430" "00000" "Familial, autosomal recessive" "26y11m" "" "15y" "" "" "" "" "" "" "" "macular dystrophy" "" ""
"0000311682" "04214" "00420434" "00000" "Familial, autosomal recessive" "14y10m" "" "15y" "" "" "" "" "" "" "" "macular dystrophy" "" ""
"0000311697" "04214" "00420449" "00000" "Familial, autosomal recessive" "42y7m" "" "38y" "" "" "" "" "" "" "" "cone-rod dystrophy" "" ""
"0000311700" "04214" "00420452" "00000" "Familial, autosomal recessive" "19y5m" "" "12y" "" "" "" "" "" "" "" "retinitis pigmentosa" "" ""
"0000311704" "04214" "00420456" "00000" "Familial, autosomal recessive" "12y" "" "6y" "" "" "" "" "" "" "" "cone-rod dystrophy" "" ""
"0000311708" "04214" "00420460" "00000" "Familial, autosomal recessive" "41y" "" "11y" "" "" "" "" "" "" "" "macular dystrophy" "" ""
"0000311709" "04214" "00420461" "00000" "Familial, autosomal recessive" "54y1m" "" "50y" "" "" "" "" "" "" "" "macular dystrophy" "" ""
"0000311710" "04214" "00420462" "00000" "Familial, autosomal recessive" "13y2m" "" "5y" "" "" "" "" "" "" "" "macular dystrophy" "" ""
"0000311714" "04214" "00420466" "00000" "Familial, autosomal recessive" "37y7m" "" "30y" "" "" "" "" "" "" "" "cone-rod dystrophy" "" ""
"0000311720" "04214" "00420472" "00000" "Familial, autosomal recessive" "63y2m" "" "21y" "" "" "" "" "" "" "" "retinitis pigmentosa" "" ""
"0000311729" "04214" "00420481" "00000" "Familial, autosomal recessive" "35y5m" "" "1y" "" "" "" "" "" "" "" "retinitis pigmentosa" "" ""
"0000311742" "04214" "00420494" "00000" "Familial, autosomal recessive" "76y5m" "" "40y" "" "" "" "" "" "" "" "macular dystrophy" "" ""
"0000311749" "04214" "00420501" "00000" "Familial, autosomal recessive" "19y4m" "" "17y" "" "" "" "" "" "" "" "macular dystrophy" "" ""
"0000311757" "04214" "00420509" "00000" "Familial, autosomal recessive" "6y4m" "" "4y" "" "" "" "" "" "" "" "macular dystrophy" "" ""
"0000311765" "04214" "00420517" "00000" "Familial, autosomal recessive" "54y6m" "" "11y" "" "" "" "" "" "" "" "retinitis pigmentosa" "" ""
"0000311772" "04214" "00420524" "00000" "Familial, autosomal recessive" "47y7m" "" "44y" "" "" "" "" "" "" "" "retinitis pigmentosa" "" ""
"0000311775" "04214" "00420527" "00000" "Familial, autosomal recessive" "76y11m" "" "21y" "" "" "" "" "" "" "" "macular dystrophy" "" ""
"0000311781" "04214" "00420533" "00000" "Familial, autosomal recessive" "45y5m" "" "15y" "" "" "" "" "" "" "" "retinitis pigmentosa" "" ""
"0000311792" "04214" "00420544" "00000" "Familial, autosomal recessive" "42y6m" "" "21y" "" "" "" "" "" "" "" "macular dystrophy" "" ""
"0000311807" "04214" "00420559" "00000" "Familial, autosomal recessive" "20y11m" "" "12y" "" "" "" "" "" "" "" "macular dystrophy" "" ""
"0000311808" "04214" "00420560" "00000" "Familial, autosomal recessive" "52y" "" "21y" "" "" "" "" "" "" "" "macular dystrophy" "" ""
"0000311813" "04214" "00420565" "00000" "Familial, autosomal recessive" "31y11m" "" "21y" "" "" "" "" "" "" "" "macular dystrophy" "" ""
"0000311817" "04214" "00420569" "00000" "Familial, autosomal recessive" "68y" "" "21y" "" "" "" "" "" "" "" "retinitis pigmentosa" "" ""
"0000313589" "04214" "00422385" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313590" "04214" "00422386" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313591" "04214" "00422387" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313592" "04214" "00422388" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313593" "04214" "00422389" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313594" "04214" "00422390" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313595" "04214" "00422391" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313596" "04214" "00422392" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313597" "04214" "00422393" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313598" "04214" "00422394" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313599" "04214" "00422395" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313601" "04214" "00422397" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313602" "04214" "00422398" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313603" "04214" "00422399" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313604" "04214" "00422400" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313605" "04214" "00422401" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313606" "04214" "00422402" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313607" "04214" "00422403" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313608" "04214" "00422404" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313609" "04214" "00422405" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313610" "04214" "00422406" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313611" "04214" "00422407" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000313612" "04214" "00422408" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313613" "04214" "00422409" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313615" "04214" "00422411" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313616" "04214" "00422412" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313618" "04214" "00422414" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313619" "04214" "00422415" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313620" "04214" "00422416" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313621" "04214" "00422417" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313622" "04214" "00422418" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313623" "04214" "00422419" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313624" "04214" "00422420" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313627" "04214" "00422423" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313629" "04214" "00422425" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313630" "04214" "00422426" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313631" "04214" "00422427" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313632" "04214" "00422428" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313634" "04214" "00422430" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313635" "04214" "00422431" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313636" "04214" "00422432" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313637" "04214" "00422433" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313638" "04214" "00422434" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313639" "04214" "00422435" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313640" "04214" "00422436" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313641" "04214" "00422437" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313642" "04214" "00422438" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313643" "04214" "00422439" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313644" "04214" "00422440" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313645" "04214" "00422441" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313646" "04214" "00422442" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313647" "04214" "00422443" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000313648" "04214" "00422444" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313649" "04214" "00422445" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313650" "04214" "00422446" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313651" "04214" "00422447" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313652" "04214" "00422448" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000313653" "04214" "00422449" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313654" "04214" "00422450" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000313655" "04214" "00422451" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313656" "04214" "00422452" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313658" "04214" "00422454" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000313659" "04214" "00422455" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000313660" "04214" "00422456" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000313661" "04214" "00422457" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313662" "04214" "00422458" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313663" "04214" "00422459" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313664" "04214" "00422460" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313665" "04214" "00422461" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313666" "04214" "00422462" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000313667" "04214" "00422463" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313668" "04214" "00422464" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313669" "04214" "00422465" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000313670" "04214" "00422466" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313671" "04214" "00422467" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313672" "04214" "00422468" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313674" "04214" "00422470" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000313675" "04214" "00422471" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313676" "04214" "00422472" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313677" "04214" "00422473" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000313678" "04214" "00422474" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313679" "04214" "00422475" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313680" "04214" "00422476" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313681" "04214" "00422477" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313683" "04214" "00422479" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313684" "04214" "00422480" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313685" "04214" "00422481" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313686" "04214" "00422482" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313687" "04214" "00422483" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000313688" "04214" "00422484" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313689" "04214" "00422485" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313690" "04214" "00422486" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000313691" "04214" "00422487" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313692" "04214" "00422488" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313693" "04214" "00422489" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313694" "04214" "00422490" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000313695" "04214" "00422491" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313696" "04214" "00422492" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313697" "04214" "00422493" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000313698" "04214" "00422494" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313699" "04214" "00422495" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000313700" "04214" "00422496" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313702" "04214" "00422498" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313703" "04214" "00422499" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313704" "04214" "00422500" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000313705" "04214" "00422501" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313706" "04214" "00422502" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000313707" "04214" "00422503" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000313708" "04214" "00422504" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000313709" "04214" "00422505" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313710" "04214" "00422506" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000313711" "04214" "00422507" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000313712" "04214" "00422508" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313713" "04214" "00422509" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000313714" "04214" "00422510" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313716" "04214" "00422512" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000313717" "04214" "00422513" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313718" "04214" "00422514" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313719" "04214" "00422515" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313720" "04214" "00422516" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313721" "04214" "00422517" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313722" "04214" "00422518" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313723" "04214" "00422519" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313724" "04214" "00422520" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313725" "04214" "00422521" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313726" "04214" "00422522" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313727" "04214" "00422523" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313728" "04214" "00422524" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313729" "04214" "00422525" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313730" "04214" "00422526" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000313731" "04214" "00422527" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313732" "04214" "00422528" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313733" "04214" "00422529" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000313734" "04214" "00422530" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313735" "04214" "00422531" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000313736" "04214" "00422532" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000313737" "04214" "00422533" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313739" "04214" "00422535" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313741" "04214" "00422537" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313742" "04214" "00422538" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000313743" "04214" "00422539" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313744" "04214" "00422540" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313745" "04214" "00422541" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313747" "04214" "00422543" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313748" "04214" "00422544" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313749" "04214" "00422545" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000313750" "04214" "00422546" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313752" "04214" "00422548" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313753" "04214" "00422549" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313755" "04214" "00422551" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313757" "04214" "00422553" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313758" "04214" "00422554" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313759" "04214" "00422555" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000313760" "04214" "00422556" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000313761" "04214" "00422557" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313762" "04214" "00422558" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313763" "04214" "00422559" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313765" "04214" "00422561" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313766" "04214" "00422562" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313768" "04214" "00422564" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000313769" "04214" "00422565" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313770" "04214" "00422566" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000313771" "04214" "00422567" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313772" "04214" "00422568" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000313773" "04214" "00422569" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313774" "04214" "00422570" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313775" "04214" "00422571" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313776" "04214" "00422572" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313777" "04214" "00422573" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313778" "04214" "00422574" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313779" "04214" "00422575" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313781" "04214" "00422577" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313782" "04214" "00422578" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313783" "04214" "00422579" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313784" "04214" "00422580" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313786" "04214" "00422582" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313788" "04214" "00422584" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313789" "04214" "00422585" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313790" "04214" "00422586" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313791" "04214" "00422587" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000313792" "04214" "00422588" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313793" "04214" "00422589" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313795" "04214" "00422591" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313797" "04214" "00422593" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313798" "04214" "00422594" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313799" "04214" "00422595" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313800" "04214" "00422596" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313801" "04214" "00422597" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313803" "04214" "00422599" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313804" "04214" "00422600" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000313805" "04214" "00422601" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000313806" "04214" "00422602" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313807" "04214" "00422603" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313808" "04214" "00422604" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313809" "04214" "00422605" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000313810" "04214" "00422606" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313811" "04214" "00422607" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313812" "04214" "00422608" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313815" "04214" "00422611" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313816" "04214" "00422612" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000313818" "04214" "00422614" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313819" "04214" "00422615" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000313820" "04214" "00422616" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313821" "04214" "00422617" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313822" "04214" "00422618" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313823" "04214" "00422619" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313824" "04214" "00422620" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313825" "04214" "00422621" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000313826" "04214" "00422622" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313827" "04214" "00422623" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313828" "04214" "00422624" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000313829" "04214" "00422625" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000313830" "04214" "00422626" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313831" "04214" "00422627" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000313832" "04214" "00422628" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313833" "04214" "00422629" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313834" "04214" "00422630" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313835" "04214" "00422631" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313836" "04214" "00422632" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313837" "04214" "00422633" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000313838" "04214" "00422634" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313839" "04214" "00422635" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313840" "04214" "00422636" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313841" "04214" "00422637" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313842" "04214" "00422638" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313843" "04214" "00422639" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313844" "04214" "00422640" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313845" "04214" "00422641" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313846" "04214" "00422642" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313847" "04214" "00422643" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000313848" "04214" "00422644" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313849" "04214" "00422645" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000313850" "04214" "00422646" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313851" "04214" "00422647" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313852" "04214" "00422648" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313853" "04214" "00422649" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000313854" "04214" "00422650" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000313855" "04214" "00422651" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313856" "04214" "00422652" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000313857" "04214" "00422653" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313858" "04214" "00422654" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000313859" "04214" "00422655" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000313860" "04214" "00422656" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313861" "04214" "00422657" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313862" "04214" "00422658" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313863" "04214" "00422659" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313864" "04214" "00422660" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313865" "04214" "00422661" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313866" "04214" "00422662" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000313867" "04214" "00422663" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000313868" "04214" "00422664" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000313869" "04214" "00422665" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313870" "04214" "00422666" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000313871" "04214" "00422667" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313872" "04214" "00422668" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313873" "04214" "00422669" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000313874" "04214" "00422670" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000313876" "04214" "00422672" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313877" "04214" "00422673" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000313878" "04214" "00422674" "04206" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000314542" "04214" "00423335" "00000" "Unknown" "" "with RPE alteration in macula" "9y" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314543" "04214" "00423336" "00000" "Unknown" "" "At the age of 57y, the ERG showed: Normal and the BCVA (OD/OS) was 43831" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314544" "04214" "00423337" "00000" "Unknown" "" "At the age of 44y, the ERG showed: - and the BCVA (OD/OS) was 0.4/0.5" "42y" "" "" "" "" "" "" "" "" "CRD-ar/STGD1" ""
"0000314545" "04214" "00423338" "00000" "Unknown" "" "" "20y" "" "" "" "" "" "" "" "" "CD-ar/ STGD1" ""
"0000314546" "04214" "00423339" "00000" "Unknown" "" "At the age of 31y, the ERG showed: Normal and the BCVA (OD/OS) was -" "20y" "" "" "" "" "" "" "" "" "CD-ar/STGD1" ""
"0000314547" "04214" "00423340" "00000" "Unknown" "" "" "39y" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314548" "04214" "00423341" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314549" "04214" "00423342" "00000" "Unknown" "" "At the age of 35y, the ERG showed: - and the BCVA (OD/OS) was 0.1/0.1" "29y" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314550" "04214" "00423343" "00000" "Unknown" "" "At the age of 70y, the ERG showed: - and the BCVA (OD/OS) was <0.1/<0.1" "8y" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314551" "04214" "00423344" "00000" "Unknown" "" "At the age of 14y, the ERG showed: Normal and the BCVA (OD/OS) was 0.7/0.6" "12y" "" "" "" "" "" "" "" "" "CD/STGD1" ""
"0000314552" "04214" "00423345" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314553" "04214" "00423346" "00000" "Unknown" "" "with RPE alteration in macula" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314554" "04214" "00423347" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314555" "04214" "00423348" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314556" "04214" "00423349" "00000" "Unknown" "" "Atypical STGD1" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314557" "04214" "00423350" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314558" "04214" "00423351" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "RP-ar" ""
"0000314559" "04214" "00423352" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314560" "04214" "00423353" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314561" "04214" "00423354" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314562" "04214" "00423355" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314563" "04214" "00423356" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "CD-ar" ""
"0000314564" "04214" "00423357" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314565" "04214" "00423358" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314566" "04214" "00423359" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314567" "04214" "00423360" "00000" "Unknown" "" "STGD/MD" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314568" "04214" "00423361" "00000" "Unknown" "" "uncertain diagnosis" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314569" "04214" "00423362" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314570" "04214" "00423363" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314571" "04214" "00423364" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314572" "04214" "00423365" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314573" "04214" "00423366" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314574" "04214" "00423367" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314575" "04214" "00423368" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314576" "04214" "00423369" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314577" "04214" "00423370" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314578" "04214" "00423371" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314579" "04214" "00423372" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314580" "04214" "00423373" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314581" "04214" "00423374" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314582" "04214" "00423375" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314583" "04214" "00423376" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314584" "04214" "00423377" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314585" "04214" "00423378" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314586" "04214" "00423379" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314587" "04214" "00423380" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314588" "04214" "00423381" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314589" "04214" "00423382" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314590" "04214" "00423383" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314591" "04214" "00423384" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314592" "04214" "00423385" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314593" "04214" "00423386" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314594" "04214" "00423387" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314595" "04214" "00423388" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314596" "04214" "00423389" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314597" "04214" "00423390" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314598" "04214" "00423391" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314599" "04214" "00423392" "00000" "Unknown" "" "" "9y" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314600" "04214" "00423393" "00000" "Unknown" "" "" "<10y" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314601" "04214" "00423394" "00000" "Unknown" "" "" "17y" "" "" "" "" "" "" "" "" "RP" ""
"0000314602" "04214" "00423395" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314603" "04214" "00423396" "00000" "Unknown" "" "" "11y" "" "" "" "" "" "" "" "" "MD" ""
"0000314604" "04214" "00423397" "00000" "Unknown" "" "" "50y" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314605" "04214" "00423398" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314606" "04214" "00423399" "00000" "Unknown" "" "" "9y" "" "" "" "" "" "" "" "" "MD" ""
"0000314607" "04214" "00423400" "00000" "Unknown" "" "" "8y" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314608" "04214" "00423401" "00000" "Unknown" "" "" "15y" "" "" "" "" "" "" "" "" "CD" ""
"0000314609" "04214" "00423402" "00000" "Unknown" "" "" "9y" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314610" "04214" "00423403" "00000" "Unknown" "" "" "10y" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314611" "04214" "00423404" "00000" "Unknown" "" "" "6y" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314612" "04214" "00423405" "00000" "Unknown" "" "" "11y" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314613" "04214" "00423406" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314614" "04214" "00423407" "00000" "Unknown" "" "FFM/Geographic Atrophy; age of onset (years): 56" "56y" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314615" "04214" "00423408" "00000" "Unknown" "" "" "40y" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314616" "04214" "00423409" "00000" "Unknown" "" "" "16y" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314617" "04214" "00423410" "00000" "Unknown" "" "" "14y" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314618" "04214" "00423411" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314619" "04214" "00423412" "00000" "Unknown" "" "" "13y" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314620" "04214" "00423413" "00000" "Unknown" "" "" "6y" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314621" "04214" "00423414" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314622" "04214" "00423415" "00000" "Unknown" "" "" "8y" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314623" "04214" "00423416" "00000" "Unknown" "" "" "10y" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314624" "04214" "00423417" "00000" "Unknown" "" "" "25y" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314625" "04214" "00423418" "00000" "Unknown" "" "" "20y" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314626" "04214" "00423419" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314627" "04214" "00423420" "00000" "Unknown" "" "" "14y" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314628" "04214" "00423421" "00000" "Unknown" "" "" "16y" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314629" "04214" "00423422" "00000" "Unknown" "" "" "8y" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314630" "04214" "00423423" "00000" "Unknown" "" "" "35y" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314631" "04214" "00423424" "00000" "Unknown" "" "" "10y" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314632" "04214" "00423425" "00000" "Unknown" "" "" "36y" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314633" "04214" "00423426" "00000" "Unknown" "" "" "25y" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314634" "04214" "00423427" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314635" "04214" "00423428" "00000" "Unknown" "" "" "6y" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314636" "04214" "00423429" "00000" "Unknown" "" "" "11y" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314637" "04214" "00423430" "00000" "Unknown" "" "" "8y" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314638" "04214" "00423431" "00000" "Unknown" "" "" "30y" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314639" "04214" "00423432" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314640" "04214" "00423433" "00000" "Unknown" "" "" "14y" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314641" "04214" "00423434" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314642" "04214" "00423435" "00000" "Unknown" "" "" "6y" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314643" "04214" "00423436" "00000" "Unknown" "" "" "10y" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314644" "04214" "00423437" "00000" "Unknown" "" "" "9y" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314645" "04214" "00423438" "00000" "Unknown" "" "" "25y" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314646" "04214" "00423439" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314647" "04214" "00423440" "00000" "Unknown" "" "" "8y" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314648" "04214" "00423441" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314649" "04214" "00423442" "00000" "Unknown" "" "" "9y" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314650" "04214" "00423443" "00000" "Unknown" "" "" "10y" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314651" "04214" "00423444" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314652" "04214" "00423445" "00000" "Unknown" "" "" "1y" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314653" "04214" "00423446" "00000" "Unknown" "" "" "9y" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314654" "04214" "00423447" "00000" "Unknown" "" "" "20y" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314655" "04214" "00423448" "00000" "Unknown" "" "" "15y" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314656" "04214" "00423449" "00000" "Unknown" "" "" "16y" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314657" "04214" "00423450" "00000" "Unknown" "" "" "5y" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314658" "04214" "00423451" "00000" "Unknown" "" "" "14y" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314659" "04214" "00423452" "00000" "Unknown" "" "" "12y" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314660" "04214" "00423453" "00000" "Unknown" "" "Severe CRD; peripheral abn" "26y" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314661" "04214" "00423454" "00000" "Unknown" "" "" "14y" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314662" "04214" "00423455" "00000" "Unknown" "" "" "9y" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314663" "04214" "00423456" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314664" "04214" "00423457" "00000" "Unknown" "" "" "15y" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314665" "04214" "00423458" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "CRD" ""
"0000314666" "04214" "00423459" "00000" "Unknown" "" "" "13y" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314667" "04214" "00423460" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314668" "04214" "00423461" "00000" "Unknown" "" "" "12y" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314669" "04214" "00423462" "00000" "Unknown" "" "FFM; age of onset (years): 32" "32y" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314670" "04214" "00423463" "00000" "Unknown" "" "" "16y" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314671" "04214" "00423464" "00000" "Unknown" "" "" "10y" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314672" "04214" "00423465" "00000" "Unknown" "" "STGD1/FFM" "2y" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314673" "04214" "00423466" "00000" "Unknown" "" "" "8y" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314674" "04214" "00423467" "00000" "Unknown" "" "" "11y" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314675" "04214" "00423468" "00000" "Unknown" "" "" "13y" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314676" "04214" "00423469" "00000" "Unknown" "" "" "13y" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314677" "04214" "00423470" "00000" "Unknown" "" "" "6y" "" "" "" "" "" "" "" "" "CRD" ""
"0000314678" "04214" "00423471" "00000" "Unknown" "" "" "18y" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314679" "04214" "00423472" "00000" "Unknown" "" "" "11y" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314680" "04214" "00423473" "00000" "Unknown" "" "" "8y" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314681" "04214" "00423474" "00000" "Unknown" "" "" "13y" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314682" "04214" "00423475" "00000" "Unknown" "" "" "9y" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314683" "04214" "00423476" "00000" "Unknown" "" "" "13y" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314684" "04214" "00423477" "00000" "Unknown" "" "" "39y" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314685" "04214" "00423478" "00000" "Unknown" "" "" "16y" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314686" "04214" "00423479" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314687" "04214" "00423480" "00000" "Unknown" "" "" "21y" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314688" "04214" "00423481" "00000" "Unknown" "" "" "36y" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314689" "04214" "00423482" "00000" "Unknown" "" "" "21y" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314690" "04214" "00423483" "00000" "Unknown" "" "STGD1/CRD" "40y" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314691" "04214" "00423484" "00000" "Unknown" "" "" "45y" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314692" "04214" "00423485" "00000" "Unknown" "" "" "9y" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314693" "04214" "00423486" "00000" "Unknown" "" "" "28y" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314694" "04214" "00423487" "00000" "Unknown" "" "" "28y" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314695" "04214" "00423488" "00000" "Unknown" "" "" "12y" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314696" "04214" "00423489" "00000" "Unknown" "" "" "10y" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314697" "04214" "00423490" "00000" "Unknown" "" "" "5y" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314698" "04214" "00423491" "00000" "Unknown" "" "" "7y" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314699" "04214" "00423492" "00000" "Unknown" "" "" "12y" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314700" "04214" "00423493" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314701" "04214" "00423494" "00000" "Unknown" "" "Diffuse RP; age of onset (years): blind from childhood" "<10y" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314702" "04214" "00423495" "00000" "Unknown" "" "Unique RP presentation" "34y" "" "" "" "" "" "" "" "" "RP" ""
"0000314703" "04214" "00423496" "00000" "Unknown" "" "" "26y" "" "" "" "" "" "" "" "" "RP" ""
"0000314704" "04214" "00423497" "00000" "Unknown" "" "" "52y" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314705" "04214" "00423498" "00000" "Unknown" "" "" "20y" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314706" "04214" "00423499" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "MD" ""
"0000314707" "04214" "00423500" "00000" "Unknown" "" "" "42y" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314708" "04214" "00423501" "00000" "Unknown" "" "" "5y" "" "" "" "" "" "" "" "" "CRD" ""
"0000314709" "04214" "00423502" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "CRD" ""
"0000314710" "04214" "00423503" "00000" "Unknown" "" "" "18y" "" "" "" "" "" "" "" "" "MD" ""
"0000314711" "04214" "00423504" "00000" "Unknown" "" "" "8y" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314712" "04214" "00423505" "00000" "Unknown" "" "" "9y" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314713" "04214" "00423506" "00000" "Unknown" "" "" "54y" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314714" "04214" "00423507" "00000" "Unknown" "" "STGD1/FFM" "33y" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314715" "04214" "00423508" "00000" "Unknown" "" "" "5y" "" "" "" "" "" "" "" "" "RP" ""
"0000314716" "04214" "00423509" "00000" "Unknown" "" "" "44y" "" "" "" "" "" "" "" "" "MD" ""
"0000314717" "04214" "00423510" "00000" "Unknown" "" "" "20y" "" "" "" "" "" "" "" "" "RP" ""
"0000314718" "04214" "00423511" "00000" "Unknown" "" "At the age of 12y, the ERG showed: Normal and the BCVA (OD/OS) was 0.1/0.1" "9y" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314719" "04214" "00423512" "00000" "Unknown" "" "STGD1/Optic Atrophy" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314720" "04214" "00423513" "00000" "Unknown" "" "At the age of 21y, the ERG showed: - and the BCVA (OD/OS) was 0.3/0.2" "12y" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314721" "04214" "00423514" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "CD" ""
"0000314722" "04214" "00423515" "00000" "Unknown" "" "(Atypical)" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314723" "04214" "00423516" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314724" "04214" "00423517" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314725" "04214" "00423518" "00000" "Unknown" "" "At the age of 43y, the ERG showed: - and the BCVA (OD/OS) was 0.4/0.5" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314726" "04214" "00423519" "00000" "Unknown" "" "MD (vitelliform)" "" "" "" "" "" "" "" "" "" "MD" ""
"0000314727" "04214" "00423520" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314728" "04214" "00423521" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314729" "04214" "00423522" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314730" "04214" "00423523" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314731" "04214" "00423524" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314732" "04214" "00423525" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314733" "04214" "00423526" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314734" "04214" "00423527" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314735" "04214" "00423528" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314736" "04214" "00423529" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314737" "04214" "00423530" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314738" "04214" "00423531" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314739" "04214" "00423532" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314740" "04214" "00423533" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314741" "04214" "00423534" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314742" "04214" "00423535" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314743" "04214" "00423536" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314744" "04214" "00423537" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314745" "04214" "00423538" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314746" "04214" "00423539" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314747" "04214" "00423540" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314748" "04214" "00423541" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314749" "04214" "00423542" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314750" "04214" "00423543" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314751" "04214" "00423544" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314752" "04214" "00423545" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "MD" ""
"0000314753" "04214" "00423546" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "MD" ""
"0000314754" "04214" "00423547" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314755" "04214" "00423548" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314756" "04214" "00423549" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314757" "04214" "00423550" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314758" "04214" "00423551" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314759" "04214" "00423552" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314760" "04214" "00423553" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "MD" ""
"0000314761" "04214" "00423554" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "MD" ""
"0000314762" "04214" "00423555" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314763" "04214" "00423556" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314764" "04214" "00423557" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314765" "04214" "00423558" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314766" "04214" "00423559" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314767" "04214" "00423560" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314768" "04214" "00423561" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314769" "04214" "00423562" "00000" "Unknown" "" "" "7y" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314770" "04214" "00423563" "00000" "Unknown" "" "" "7y" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314771" "04214" "00423564" "00000" "Unknown" "" "" "11y" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314772" "04214" "00423565" "00000" "Unknown" "" "" "13y" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314773" "04214" "00423566" "00000" "Unknown" "" "" "18y" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314774" "04214" "00423567" "00000" "Unknown" "" "" "16y" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314775" "04214" "00423568" "00000" "Unknown" "" "" "7y" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314776" "04214" "00423569" "00000" "Unknown" "" "" "20y" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314777" "04214" "00423570" "00000" "Unknown" "" "" "32y" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314778" "04214" "00423571" "00000" "Unknown" "" "" "10y" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314779" "04214" "00423572" "00000" "Unknown" "" "" "18y" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314780" "04214" "00423573" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314781" "04214" "00423574" "00000" "Unknown" "" "Examination (13-09-2010) showed vision without correction of approximately 20/50 in either eye. Anterior segment examination was unremarkable. Fundus examination showed a blunted reflex in the right eye and the left eye was very difficult to see as he w" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314782" "04214" "00423575" "00000" "Unknown" "" "BCVA 20/150 OU; blurred central vision; mfERG: reduced central amplitudes in both eyes; ffERG: relatively normal scotopic responses with some decrease in cone response; Anterior segment exam normal; Posterior segment exam: small flecks at lev" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314783" "04214" "00423576" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314784" "04214" "00423577" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314785" "04214" "00423578" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314786" "04214" "00423579" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314787" "04214" "00423580" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314788" "04214" "00423581" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314789" "04214" "00423582" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314790" "04214" "00423583" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314791" "04214" "00423584" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314792" "04214" "00423585" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314793" "04214" "00423586" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314794" "04214" "00423587" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314795" "04214" "00423588" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314796" "04214" "00423589" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314797" "04214" "00423590" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1; CRD" ""
"0000314798" "04214" "00423591" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314799" "04214" "00423592" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314800" "04214" "00423593" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314801" "04214" "00423594" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314802" "04214" "00423595" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314803" "04214" "00423596" "00000" "Unknown" "" "" "56y" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314804" "04214" "00423597" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314805" "04214" "00423598" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314806" "04214" "00423599" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314807" "04214" "00423600" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314808" "04214" "00423601" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "CRD" ""
"0000314809" "04214" "00423602" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314810" "04214" "00423603" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314811" "04214" "00423604" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314812" "04214" "00423605" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314813" "04214" "00423606" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314814" "04214" "00423607" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314815" "04214" "00423608" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314816" "04214" "00423609" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314817" "04214" "00423610" "00000" "Unknown" "" "foveal yellow depsits" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314818" "04214" "00423611" "00000" "Unknown" "" "bull\'s eyes maculopathy" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314819" "04214" "00423612" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314820" "04214" "00423613" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314821" "04214" "00423614" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314822" "04214" "00423615" "00000" "Unknown" "" "geographic atrophy and pigments,peripheral atrophy" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314823" "04214" "00423616" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314824" "04214" "00423617" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314825" "04214" "00423618" "00000" "Unknown" "" "macular atrophya nd flecks" "" "" "" "" "" "" "" "" "" "CRD" ""
"0000314826" "04214" "00423619" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314827" "04214" "00423620" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314828" "04214" "00423621" "00000" "Unknown" "" "foveal atrophy ,retinal flecks" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314829" "04214" "00423622" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314830" "04214" "00423623" "00000" "Unknown" "" "macular atrophy ,peripheral pigments" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314831" "04214" "00423624" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314832" "04214" "00423625" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314833" "04214" "00423626" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314834" "04214" "00423627" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314835" "04214" "00423628" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314836" "04214" "00423629" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314837" "04214" "00423630" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314838" "04214" "00423631" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314839" "04214" "00423632" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314840" "04214" "00423633" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314841" "04214" "00423634" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314842" "04214" "00423635" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314843" "04214" "00423636" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314844" "04214" "00423637" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314845" "04214" "00423638" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "CD" ""
"0000314846" "04214" "00423639" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "CRD" ""
"0000314847" "04214" "00423640" "00000" "Unknown" "" "Late onset STGD1" ">45y" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314848" "04214" "00423641" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314849" "04214" "00423642" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314850" "04214" "00423643" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314851" "04214" "00423644" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314852" "04214" "00423645" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314853" "04214" "00423646" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314854" "04214" "00423647" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314855" "04214" "00423648" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314856" "04214" "00423649" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314857" "04214" "00423650" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314858" "04214" "00423651" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314859" "04214" "00423652" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314860" "04214" "00423653" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314861" "04214" "00423654" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314862" "04214" "00423655" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314863" "04214" "00423656" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314864" "04214" "00423657" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314865" "04214" "00423658" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314866" "04214" "00423659" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314867" "04214" "00423660" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314868" "04214" "00423661" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314869" "04214" "00423662" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314870" "04214" "00423663" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314871" "04214" "00423664" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314872" "04214" "00423665" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314873" "04214" "00423666" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314874" "04214" "00423667" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314875" "04214" "00423668" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "CRD" ""
"0000314876" "04214" "00423669" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314877" "04214" "00423670" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314878" "04214" "00423671" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314879" "04214" "00423672" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314880" "04214" "00423673" "00000" "Unknown" "" "STGD1-like" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314881" "04214" "00423674" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314882" "04214" "00423675" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314883" "04214" "00423676" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314884" "04214" "00423677" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314885" "04214" "00423678" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314886" "04214" "00423679" "00000" "Unknown" "" "" "7y" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314887" "04214" "00423680" "00000" "Unknown" "" "" "12y" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314888" "04214" "00423681" "00000" "Unknown" "" "" "6y" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314889" "04214" "00423682" "00000" "Unknown" "" "" "16y" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314890" "04214" "00423683" "00000" "Unknown" "" "AaO: 9 years old. BCVA: 20/80 OU. Fundus exam shows bilateral maculopathy. FA with macular hypoautofluorescence and foci of high and low autofluorescent signal extend to peripheral retina. Anterior segment exam is normal." "9y" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314891" "04214" "00423684" "00000" "Unknown" "" "" "16y" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314892" "04214" "00423685" "00000" "Unknown" "" "" "8y" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314893" "04214" "00423686" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314894" "04214" "00423687" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314895" "04214" "00423688" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314896" "04214" "00423689" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314897" "04214" "00423690" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314898" "04214" "00423691" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314899" "04214" "00423692" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314900" "04214" "00423693" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314901" "04214" "00423694" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314902" "04214" "00423695" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314903" "04214" "00423696" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314904" "04214" "00423697" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314905" "04214" "00423698" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314906" "04214" "00423699" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314907" "04214" "00423700" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314908" "04214" "00423701" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314909" "04214" "00423702" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314910" "04214" "00423703" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314911" "04214" "00423704" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314912" "04214" "00423705" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314913" "04214" "00423706" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314914" "04214" "00423707" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314915" "04214" "00423708" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314916" "04214" "00423709" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314917" "04214" "00423710" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314918" "04214" "00423711" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314919" "04214" "00423712" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314920" "04214" "00423713" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314921" "04214" "00423714" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314922" "04214" "00423715" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "CRD" ""
"0000314923" "04214" "00423716" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314924" "04214" "00423717" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314925" "04214" "00423718" "00000" "Unknown" "" "with RPE alteration in macula" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314926" "04214" "00423719" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314927" "04214" "00423720" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314928" "04214" "00423721" "00000" "Unknown" "" "with RPE alteration in macula" "" "" "" "" "" "" "" "" "" "RP" ""
"0000314929" "04214" "00423722" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314930" "04214" "00423723" "00000" "Unknown" "" "At the age of 38y, the ERG showed: - and the BCVA (OD/OS) was 0.1/0.1" "35y" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314931" "04214" "00423724" "00000" "Unknown" "" "with RPE alteration in macula" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314932" "04214" "00423725" "00000" "Unknown" "" "with RPE alteration in macula" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314933" "04214" "00423726" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314934" "04214" "00423727" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314935" "04214" "00423728" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "CRD" ""
"0000314936" "04214" "00423729" "00000" "Unknown" "" "with RPE alteration in macula" "" "" "" "" "" "" "" "" "" "CRD" ""
"0000314937" "04214" "00423730" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "RP" ""
"0000314938" "04214" "00423731" "00000" "Unknown" "" "with RPE alteration in macula" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314939" "04214" "00423732" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314940" "04214" "00423733" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314941" "04214" "00423734" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314942" "04214" "00423735" "00000" "Unknown" "" "with RPE alteration in macula" "" "" "" "" "" "" "" "" "" "CRD" ""
"0000314943" "04214" "00423736" "00000" "Unknown" "" "with RPE alteration in macula" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314944" "04214" "00423737" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314945" "04214" "00423738" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "CRD" ""
"0000314946" "04214" "00423739" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314947" "04214" "00423740" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "CRD" ""
"0000314948" "04214" "00423741" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "CRD" ""
"0000314949" "04214" "00423742" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "CRD" ""
"0000314950" "04214" "00423743" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314951" "04214" "00423744" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "CRD" ""
"0000314952" "04214" "00423745" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314953" "04214" "00423746" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314954" "04214" "00423747" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314955" "04214" "00423748" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314956" "04214" "00423749" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314957" "04214" "00423750" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314958" "04214" "00423751" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314959" "04214" "00423752" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "CRD" ""
"0000314960" "04214" "00423753" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314961" "04214" "00423754" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "CRD" ""
"0000314962" "04214" "00423755" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "CRD" ""
"0000314963" "04214" "00423756" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "CRD" ""
"0000314964" "04214" "00423757" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "CRD" ""
"0000314965" "04214" "00423758" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "CRD" ""
"0000314966" "04214" "00423759" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314967" "04214" "00423760" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314968" "04214" "00423761" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314969" "04214" "00423762" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314970" "04214" "00423763" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314971" "04214" "00423764" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "CRD" ""
"0000314972" "04214" "00423765" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314973" "04214" "00423766" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314974" "04214" "00423767" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314975" "04214" "00423768" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314976" "04214" "00423769" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314977" "04214" "00423770" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314978" "04214" "00423771" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314979" "04214" "00423772" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314980" "04214" "00423773" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "CRD" ""
"0000314981" "04214" "00423774" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "CRD" ""
"0000314982" "04214" "00423775" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314983" "04214" "00423776" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "CRD" ""
"0000314984" "04214" "00423777" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314985" "04214" "00423778" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "CRD" ""
"0000314986" "04214" "00423779" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "CRD" ""
"0000314987" "04214" "00423780" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314988" "04214" "00423781" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314989" "04214" "00423782" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314990" "04214" "00423783" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314991" "04214" "00423784" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314992" "04214" "00423785" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "CRD" ""
"0000314993" "04214" "00423786" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "CRD" ""
"0000314994" "04214" "00423787" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "CRD" ""
"0000314995" "04214" "00423788" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "CRD" ""
"0000314996" "04214" "00423789" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314997" "04214" "00423790" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314998" "04214" "00423791" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000314999" "04214" "00423792" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315000" "04214" "00423793" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315001" "04214" "00423794" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315002" "04214" "00423795" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315003" "04214" "00423796" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315004" "04214" "00423797" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "CRD" ""
"0000315005" "04214" "00423798" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315006" "04214" "00423799" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315007" "04214" "00423800" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "RP" ""
"0000315008" "04214" "00423801" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "CRD" ""
"0000315009" "04214" "00423802" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "CRD" ""
"0000315010" "04214" "00423803" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315011" "04214" "00423804" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "MD-I" ""
"0000315012" "04214" "00423805" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315013" "04214" "00423806" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "MD-I" ""
"0000315014" "04214" "00423807" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315015" "04214" "00423808" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "CRD" ""
"0000315016" "04214" "00423809" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "CD" ""
"0000315017" "04214" "00423810" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315018" "04214" "00423811" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315019" "04214" "00423812" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315020" "04214" "00423813" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315021" "04214" "00423814" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "RP" ""
"0000315022" "04214" "00423815" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315023" "04214" "00423816" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315024" "04214" "00423817" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315025" "04214" "00423818" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315026" "04214" "00423819" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315027" "04214" "00423820" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315028" "04214" "00423821" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315029" "04214" "00423822" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "RP-AR" ""
"0000315030" "04214" "00423823" "00000" "Unknown" "" "" "<20y" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315031" "04214" "00423824" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315032" "04214" "00423825" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "RP-AD" ""
"0000315033" "04214" "00423826" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315034" "04214" "00423827" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315035" "04214" "00423828" "00000" "Unknown" "" "Pattern Dystrophy" "" "" "" "" "" "" "" "" "" "MD" ""
"0000315036" "04214" "00423829" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315037" "04214" "00423830" "00000" "Unknown" "" "late onset STGD" ">45y" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315038" "04214" "00423831" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "MD" ""
"0000315039" "04214" "00423832" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "CRD" ""
"0000315040" "04214" "00423833" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315041" "04214" "00423834" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315042" "04214" "00423835" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315043" "04214" "00423836" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315044" "04214" "00423837" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "CD" ""
"0000315045" "04214" "00423838" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "CACD" ""
"0000315046" "04214" "00423839" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "MD" ""
"0000315047" "04214" "00423840" "00000" "Unknown" "" "late onset STGD" ">45y" "" "" "" "" "" "" "" "" "MD" ""
"0000315048" "04214" "00423841" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315049" "04214" "00423842" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315050" "04214" "00423843" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "CD-I" ""
"0000315051" "04214" "00423844" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "MD" ""
"0000315052" "04214" "00423845" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315053" "04214" "00423846" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315054" "04214" "00423847" "00000" "Unknown" "" "late onset STGD" ">45y" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315055" "04214" "00423848" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315056" "04214" "00423849" "00000" "Unknown" "" "" "15y" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315057" "04214" "00423850" "00000" "Unknown" "" "" "23y" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315058" "04214" "00423851" "00000" "Unknown" "" "" "15y" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315059" "04214" "00423852" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315060" "04214" "00423853" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315061" "04214" "00423854" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315062" "04214" "00423855" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315063" "04214" "00423856" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315064" "04214" "00423857" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315065" "04214" "00423858" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315066" "04214" "00423859" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315067" "04214" "00423860" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315068" "04214" "00423861" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315069" "04214" "00423862" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315070" "04214" "00423863" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315071" "04214" "00423864" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315072" "04214" "00423865" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315073" "04214" "00423866" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315074" "04214" "00423867" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315075" "04214" "00423868" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315076" "04214" "00423869" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315077" "04214" "00423870" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315078" "04214" "00423871" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315079" "04214" "00423872" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315080" "04214" "00423873" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315081" "04214" "00423874" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315082" "04214" "00423875" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315083" "04214" "00423876" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315084" "04214" "00423877" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315085" "04214" "00423878" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315086" "04214" "00423879" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315087" "04214" "00423880" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315088" "04214" "00423881" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315089" "04214" "00423882" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315090" "04214" "00423883" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315091" "04214" "00423884" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315092" "04214" "00423885" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315093" "04214" "00423886" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315094" "04214" "00423887" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315095" "04214" "00423888" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315096" "04214" "00423889" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315097" "04214" "00423890" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315098" "04214" "00423891" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315099" "04214" "00423892" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315100" "04214" "00423893" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315101" "04214" "00423894" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315102" "04214" "00423895" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315103" "04214" "00423896" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315104" "04214" "00423897" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315105" "04214" "00423898" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315106" "04214" "00423899" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315107" "04214" "00423900" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315108" "04214" "00423901" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315109" "04214" "00423902" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315110" "04214" "00423903" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315111" "04214" "00423904" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315112" "04214" "00423905" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315113" "04214" "00423906" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315114" "04214" "00423907" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315115" "04214" "00423908" "00000" "Unknown" "" "with RPE alteration in macula" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315116" "04214" "00423909" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315117" "04214" "00423910" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315118" "04214" "00423911" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315119" "04214" "00423912" "00000" "Unknown" "" "with RPE alteration in macula" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315120" "04214" "00423913" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315121" "04214" "00423914" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315122" "04214" "00423915" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315123" "04214" "00423916" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315124" "04214" "00423917" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315125" "04214" "00423918" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315126" "04214" "00423919" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315127" "04214" "00423920" "00000" "Unknown" "" "with RPE alteration in macula" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315128" "04214" "00423921" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315129" "04214" "00423922" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315130" "04214" "00423923" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315131" "04214" "00423924" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315132" "04214" "00423925" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315133" "04214" "00423926" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315134" "04214" "00423927" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "arCRD" ""
"0000315135" "04214" "00423928" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "arCRD" ""
"0000315136" "04214" "00423929" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315137" "04214" "00423930" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315138" "04214" "00423931" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315139" "04214" "00423932" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315140" "04214" "00423933" "00000" "Unknown" "" "STGD (bull\'s eyes maculopathy)" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315141" "04214" "00423934" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315142" "04214" "00423935" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315143" "04214" "00423936" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315144" "04214" "00423937" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315145" "04214" "00423938" "00000" "Unknown" "" "STGD-FFM" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315146" "04214" "00423939" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315147" "04214" "00423940" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315148" "04214" "00423941" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315149" "04214" "00423942" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315150" "04214" "00423943" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315151" "04214" "00423944" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315152" "04214" "00423945" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315153" "04214" "00423946" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315154" "04214" "00423947" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315155" "04214" "00423948" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315156" "04214" "00423949" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315157" "04214" "00423950" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315158" "04214" "00423951" "00000" "Unknown" "" "STGD late onset" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315159" "04214" "00423952" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315160" "04214" "00423953" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315161" "04214" "00423954" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315162" "04214" "00423955" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315163" "04214" "00423956" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315164" "04214" "00423957" "00000" "Unknown" "" "STGD -like" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315165" "04214" "00423958" "00000" "Unknown" "" "STGD or late onset maculopathy" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315166" "04214" "00423959" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315167" "04214" "00423960" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315168" "04214" "00423961" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315169" "04214" "00423962" "00000" "Unknown" "" "STGD late onset" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315170" "04214" "00423963" "00000" "Unknown" "" "STGD like" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315171" "04214" "00423964" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315172" "04214" "00423965" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315173" "04214" "00423966" "00000" "Unknown" "" "STGD late onset" ">45y" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315174" "04214" "00423967" "00000" "Unknown" "" "with RPE alteration in macula" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315175" "04214" "00423968" "00000" "Unknown" "" "Atypical" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315176" "04214" "00423969" "00000" "Unknown" "" "STGD young adult" "<30y" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315177" "04214" "00423970" "00000" "Unknown" "" "" ">45y" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315178" "04214" "00423971" "00000" "Unknown" "" "STGD late onset" ">45y" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315179" "04214" "00423972" "00000" "Unknown" "" "STGD late onset - FFM" ">45y" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315180" "04214" "00423973" "00000" "Unknown" "" "STGD + FFM" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315181" "04214" "00423974" "00000" "Unknown" "" "STGD late onset" ">45y" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315182" "04214" "00423975" "00000" "Unknown" "" "STGD + FFM" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315183" "04214" "00423976" "00000" "Unknown" "" "STGD late onset" ">45y" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315184" "04214" "00423977" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315185" "04214" "00423978" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315186" "04214" "00423979" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315187" "04214" "00423980" "00000" "Unknown" "" "STGD late onset" ">45y" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315188" "04214" "00423981" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315189" "04214" "00423982" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315190" "04214" "00423983" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315191" "04214" "00423984" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315192" "04214" "00423985" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315193" "04214" "00423986" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315194" "04214" "00423987" "00000" "Unknown" "" "STGD or CD" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315195" "04214" "00423988" "00000" "Unknown" "" "STGD-like" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315196" "04214" "00423989" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315197" "04214" "00423990" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315198" "04214" "00423991" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315199" "04214" "00423992" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315200" "04214" "00423993" "00000" "Unknown" "" "STGD-like" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315201" "04214" "00423994" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315202" "04214" "00423995" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315203" "04214" "00423996" "00000" "Unknown" "" "STGD (bull\'s eyes maculopathy)" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315204" "04214" "00423997" "00000" "Unknown" "" "STGD or X Flavimaculated dystrophy" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315205" "04214" "00423998" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315206" "04214" "00423999" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315207" "04214" "00424000" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315208" "04214" "00424001" "00000" "Unknown" "" "STGD adult without FFM" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315209" "04214" "00424002" "00000" "Unknown" "" "STGD without FFM; or person ST1061,2" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315210" "04214" "00424003" "00000" "Unknown" "" "STGD late onset" ">45y" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315211" "04214" "00424004" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315212" "04214" "00424005" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315213" "04214" "00424006" "00000" "Unknown" "" "FFM" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315214" "04214" "00424007" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315215" "04214" "00424008" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315216" "04214" "00424009" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315217" "04214" "00424010" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315218" "04214" "00424011" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000315997" "00347" "00424802" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "macular degeneration, age-related (ARMD)" "" ""
"0000315998" "00347" "00424803" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "macular degeneration, age-related (ARMD)" "" ""
"0000315999" "00347" "00424804" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "macular degeneration, age-related (ARMD)" "" ""
"0000316000" "00347" "00424805" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "macular degeneration, age-related (ARMD)" "" ""
"0000316001" "00347" "00424806" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "macular degeneration, age-related (ARMD)" "" ""
"0000316002" "00347" "00424807" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "macular degeneration, age-related (ARMD)" "" ""
"0000316003" "00347" "00424808" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "macular degeneration, age-related (ARMD)" "" ""
"0000316004" "00347" "00424809" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "macular degeneration, age-related (ARMD)" "" ""
"0000316005" "00347" "00424810" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "macular degeneration, age-related (ARMD)" "" ""
"0000316006" "00347" "00424811" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "macular degeneration, age-related (ARMD)" "" ""
"0000316007" "00347" "00424812" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "macular degeneration, age-related (ARMD)" "" ""
"0000316008" "00347" "00424813" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "macular degeneration, age-related (ARMD)" "" ""
"0000316009" "00347" "00424814" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "macular degeneration, age-related (ARMD)" "" ""
"0000316010" "00347" "00424815" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "macular degeneration, age-related (ARMD)" "" ""
"0000316011" "00347" "00424816" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "macular degeneration, age-related (ARMD)" "" ""
"0000316012" "00347" "00424817" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "macular degeneration, age-related (ARMD)" "" ""
"0000316013" "00347" "00424818" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "macular degeneration, age-related (ARMD)" "" ""
"0000316014" "00347" "00424819" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "macular degeneration, age-related (ARMD)" "" ""
"0000316015" "00347" "00424820" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "macular degeneration, age-related (ARMD)" "" ""
"0000316016" "00347" "00424821" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "macular degeneration, age-related (ARMD)" "" ""
"0000316017" "00347" "00424822" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "macular degeneration, age-related (ARMD)" "" ""
"0000316018" "00347" "00424823" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "macular degeneration, age-related (ARMD)" "" ""
"0000316019" "00347" "00424824" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "macular degeneration, age-related (ARMD)" "" ""
"0000316020" "00347" "00424825" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "macular degeneration, age-related (ARMD)" "" ""
"0000316021" "00347" "00424826" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "macular degeneration, age-related (ARMD)" "" ""
"0000316025" "04214" "00424830" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000316026" "04214" "00424831" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000316027" "04214" "00424832" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000316028" "04214" "00424833" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000316029" "04214" "00424834" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000316030" "04214" "00424835" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000316031" "04214" "00424836" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000316032" "04214" "00424837" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000316033" "04214" "00424838" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000316034" "04214" "00424839" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000316035" "04214" "00424840" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000316036" "04214" "00424841" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000316037" "04214" "00424842" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000316038" "04214" "00424843" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000316039" "04214" "00424844" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000316040" "04214" "00424845" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000316041" "04214" "00424846" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000316042" "04214" "00424847" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000316043" "04214" "00424848" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000316044" "04214" "00424849" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000316045" "04214" "00424850" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000316046" "04214" "00424851" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000316047" "04214" "00424852" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000316048" "04214" "00424853" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000316049" "04214" "00424854" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000316050" "04214" "00424855" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000316051" "04214" "00424856" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000316052" "04214" "00424857" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000316053" "04214" "00424858" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000316054" "04214" "00424859" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000316055" "04214" "00424860" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000316056" "04214" "00424861" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000316057" "04214" "00424862" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000316058" "04214" "00424863" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000316059" "04214" "00424864" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000316060" "04214" "00424865" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000316061" "04214" "00424866" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000316062" "04214" "00424867" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000316063" "04214" "00424868" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000316064" "04214" "00424869" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000316065" "04214" "00424870" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000316066" "04214" "00424871" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000316067" "04214" "00424872" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000316068" "04214" "00424873" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000316069" "04214" "00424874" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000316070" "04214" "00424875" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000316071" "04214" "00424876" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000316072" "04214" "00424877" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000316073" "04214" "00424878" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000316074" "04214" "00424879" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000316075" "04214" "00424880" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000316076" "04214" "00424881" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000316077" "04214" "00424882" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000316078" "04214" "00424883" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000316079" "04214" "00424884" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000316080" "04214" "00424885" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000316081" "04214" "00424886" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000316082" "04214" "00424887" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000316083" "04214" "00424888" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000316084" "04214" "00424889" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000316085" "04214" "00424890" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000316086" "04214" "00424891" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000316087" "04214" "00424892" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000316088" "04214" "00424893" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000316089" "04214" "00424894" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000316090" "04214" "00424895" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000316091" "04214" "00424896" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000316093" "00347" "00424898" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" "" ""
"0000316094" "00347" "00424899" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" "" ""
"0000316095" "00347" "00424900" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" "" ""
"0000316096" "00347" "00424901" "00000" "Isolated (sporadic)" "16y" "15y: no significant medical history; best corrected visual acuity: 20/150 in both eyes; color fundus photographs, optical coherence tomography and fundus autofluorescence: several macular hyperfluorescent flecks bilaterally, no notable defects at the level of retinal pigment epithelium; full-field electroretinography findings: relatively normal other than minimal bilateral reductions of photopic waveforms; electro-oculography: normal; at a follow-up appointment 11 months after initial presentation, clinical examination: a large fibrotic pigment epithelial detachment along the superotemporal arcade in the left eye, no visual symptoms, visual acuity unchanged at 20/150; fluorescein angiography: mild late leakage - in the setting of a new large pigment epithelial detachment possible choroidal neovascularization (CNV); autofluorescence of the lesion: hyperfluorescence; treatment with off-label use of intravitreal bevacizumab in the left eye following informed consent, 2 sequential injections: given at a 1-month interval; 13 months after initial presentation, the pigment epithelial detachment in the left eye remained unchanged, and a similar asymptomatic pigment epithelial detachment detected in the superotemporal macula of the right eye; treatment with intravitreal bevacizumab: discontinued in the left eye at this time because there had been no evidence of significant involution either clinically or on optical coherence tomography nor any notable change in the fluorescein angiography findings; 4 months later, the pigment epithelial detachment in the right eye had slightly diminished in size, and the pigment epithelial detachment in the left eye appeared unchanged" "" "" "" "" "" "" "" "" "Stargardt disease" "" ""
"0000316097" "00347" "00424902" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "macular degeneration, age-related (ARMD)" "" ""
"0000316098" "00347" "00424903" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "macular degeneration, age-related (ARMD)" "" ""
"0000316099" "00347" "00424904" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "macular degeneration, age-related (ARMD)" "" ""
"0000316116" "04215" "00424917" "00000" "Familial, autosomal recessive" "38y" "best corrected visual acuity right/left eye: 0,03/0,07; atrophy size ellipsoid zones, right/left eye, mm: not defined, because of the loss of the ellipsoidal zone throughout the OCT slice; central scotoma size right/left eye: 30deg/30deg; mean retinal sensitivity right/left eye (dB): 0,9/0,6; electroretinogram: interocular asymmetry of indicators" "14y" "" "p.G1961E" "" "" "" "" "" "Stargardt disease" "" ""
"0000316117" "04215" "00424918" "00000" "Familial, autosomal recessive" "25y" "best corrected visual acuity right/left eye: 0,2/0,2; atrophy size ellipsoid zones, right/left eye, mm: 2,06/3,04; central scotoma size right/left eye: 10deg/10deg; mean retinal sensitivity right/left eye (dB): 12,8/13,9; electroretinogram: normal" "10y" "" "p.G1961E" "" "" "" "" "" "Stargardt disease" "" ""
"0000316118" "04215" "00424919" "00000" "Familial, autosomal recessive" "57y" "best corrected visual acuity right/left eye: 0,09/0,08; atrophy size ellipsoid zones, right/left eye, mm: 3,0/3,0; central scotoma size right/left eye: 12deg/12deg; mean retinal sensitivity right/left eye (dB): 12,9/16,1; electroretinogram: interocular asymmetry of indicators" "10y" "" "p.G1961E" "" "" "" "" "" "Stargardt disease" "" ""
"0000316119" "04215" "00424920" "00000" "Familial, autosomal recessive" "49y" "best corrected visual acuity right/left eye: 0,2/0,25; atrophy size ellipsoid zones, right/left eye, mm: 3,39/2,88; central scotoma size right/left eye: 12deg/10deg; mean retinal sensitivity right/left eye (dB): 17,8/19,3; electroretinogram: interocular asymmetry of indicators" "12y" "" "p.G1961E" "" "" "" "" "" "Stargardt disease" "" ""
"0000316120" "04215" "00424921" "00000" "Familial, autosomal recessive" "24y" "best corrected visual acuity right/left eye: 0,2/0,2; atrophy size ellipsoid zones, right/left eye, mm: 1,96/2,51; central scotoma size right/left eye: 10deg/10deg; mean retinal sensitivity right/left eye (dB): 22,1/22,3; electroretinogram: moderately reduced" "21y" "" "p.G1961E" "" "" "" "" "" "Stargardt disease" "" ""
"0000316121" "04215" "00424922" "00000" "Familial, autosomal recessive" "26y" "best corrected visual acuity right/left eye: 0,08/0,1; atrophy size ellipsoid zones, right/left eye, mm: 3,63/3,98; central scotoma size right/left eye: 15deg/20deg; mean retinal sensitivity right/left eye (dB): 12,0/13,7; electroretinogram: moderately reduced" "14y" "" "p.G1961E" "" "" "" "" "" "Stargardt disease" "" ""
"0000316122" "04215" "00424923" "00000" "Familial, autosomal recessive" "4y" "best corrected visual acuity right/left eye: 0,2/0,2; atrophy size ellipsoid zones, right/left eye, mm: 1,07/1,21; central scotoma size right/left eye: 7deg/7deg; mean retinal sensitivity right/left eye (dB): 20,1/24,9; electroretinogram: interocular asymmetry of indicators" "13y" "" "p.G1961E" "" "" "" "" "" "Stargardt disease" "" ""
"0000316123" "04215" "00424924" "00000" "Familial, autosomal recessive" "2y" "best corrected visual acuity right/left eye: 0,5/0,5; atrophy size ellipsoid zones, right/left eye, mm: 1,31/1,17; central scotoma size right/left eye: 7deg/7deg; mean retinal sensitivity right/left eye (dB): 27,0/25,5; electroretinogram: significantly reduced" "15y" "" "p.G1961E" "" "" "" "" "" "Stargardt disease" "" ""
"0000316124" "04215" "00424925" "00000" "Familial, autosomal recessive" "32y" "best corrected visual acuity right/left eye: 0,1/0,15; atrophy size ellipsoid zones, right/left eye, mm: 2,18/2,02; central scotoma size right/left eye: 7deg/7deg; mean retinal sensitivity right/left eye (dB): 15,7/13,8; electroretinogram: normal" "33y" "" "p.G1961E" "" "" "" "" "" "Stargardt disease" "" ""
"0000316125" "04215" "00424926" "00000" "Familial, autosomal recessive" "5y" "best corrected visual acuity right/left eye: 0,2/0,2; atrophy size ellipsoid zones, right/left eye, mm: 1,40/1,42; central scotoma size right/left eye: 5deg/7deg; mean retinal sensitivity right/left eye (dB): 23,7/22,7; electroretinogram: normal" "43y" "" "p.G1961E" "" "" "" "" "" "Stargardt disease" "" ""
"0000316126" "04215" "00424927" "00000" "Familial, autosomal recessive" "32y" "best corrected visual acuity right/left eye: 0,06/0,06; atrophy size ellipsoid zones, right/left eye, mm: 4,56/5,1; central scotoma size right/left eye: 15deg/15deg; mean retinal sensitivity right/left eye (dB): 9,5/13,5; electroretinogram: normal" "37y" "" "p.G1961E" "" "" "" "" "" "Stargardt disease" "" ""
"0000316127" "04215" "00424928" "00000" "Familial, autosomal recessive" "3y" "best corrected visual acuity right/left eye: 0,3/0,2; atrophy size ellipsoid zones, right/left eye, mm: 2,22/2,67; central scotoma size right/left eye: 7deg/7deg; mean retinal sensitivity right/left eye (dB): 24,7/26,5; electroretinogram: normal" "18y" "" "p.G1961E" "" "" "" "" "" "Stargardt disease" "" ""
"0000316128" "04215" "00424929" "00000" "Familial, autosomal recessive" "15y" "best corrected visual acuity right/left eye: 0,2/0,3; atrophy size ellipsoid zones, right/left eye, mm: 4,93/4,45; central scotoma size right/left eye: 10deg/10deg; mean retinal sensitivity right/left eye (dB): 25,0/24,5; electroretinogram: normal" "24y" "" "p.G1961E" "" "" "" "" "" "Stargardt disease" "" ""
"0000316129" "04215" "00424930" "00000" "Familial, autosomal recessive" "13y" "best corrected visual acuity right/left eye: 0,02/0,02; atrophy size ellipsoid zones, right/left eye, mm: not defined, because of the loss of the ellipsoidal zone throughout the OCT slice; central scotoma size right/left eye: 30deg/30deg; mean retinal sensitivity right/left eye (dB): 5,9/5,6; electroretinogram: normal" "32y" "" "p.G1961E" "" "" "" "" "" "Stargardt disease" "" ""
"0000316130" "04215" "00424931" "00000" "Familial, autosomal recessive" "34y" "best corrected visual acuity right/left eye: 0,2/0,2; atrophy size ellipsoid zones, right/left eye, mm: 3,49/3,28; central scotoma size right/left eye: 10deg/10deg; mean retinal sensitivity right/left eye (dB): 23/23; electroretinogram: normal" "18y" "" "p.G1961E" "" "" "" "" "" "Stargardt disease" "" ""
"0000316131" "04215" "00424932" "00000" "Familial, autosomal recessive" "24y" "best corrected visual acuity right/left eye: 0,1/0,1; atrophy size ellipsoid zones, right/left eye, mm: 4,84/4,72; central scotoma size right/left eye: 15deg/15deg; mean retinal sensitivity right/left eye (dB): 20,2/22; electroretinogram: normal" "9y" "" "p.G1961E" "" "" "" "" "" "Stargardt disease" "" ""
"0000316132" "04215" "00424933" "00000" "Familial, autosomal recessive" "9y" "best corrected visual acuity right/left eye: 0,2/0,2; atrophy size ellipsoid zones, right/left eye, mm: 1,87/1,8; central scotoma size right/left eye: 7deg/7deg; mean retinal sensitivity right/left eye (dB): 26,8/26,2; electroretinogram: not done" "15y" "" "p.G1961E" "" "" "" "" "" "Stargardt disease" "" ""
"0000316133" "04215" "00424934" "00000" "Familial, autosomal recessive" "17y" "best corrected visual acuity right/left eye: 0,1/0,1; atrophy size ellipsoid zones, right/left eye, mm: 5,49/5,7; central scotoma size right/left eye: 15deg/15deg; mean retinal sensitivity right/left eye (dB): 21,5/22,6; electroretinogram: normal" "11y" "" "p.G1961E" "" "" "" "" "" "Stargardt disease" "" ""
"0000316134" "04215" "00424935" "00000" "Familial, autosomal recessive" "14y" "best corrected visual acuity right/left eye: 0,09/0,1; atrophy size ellipsoid zones, right/left eye, mm: 2,35/3,04; central scotoma size right/left eye: 15deg/20deg; mean retinal sensitivity right/left eye (dB): 17,7/20,9; electroretinogram: severely reduced" "35y" "" "p.G1961E" "" "" "" "" "" "Stargardt disease" "" ""
"0000316135" "04214" "00424936" "00000" "Familial, autosomal recessive" "45y" "best corrected visual acuity right/left eye: 0,03/0,03; atrophy size ellipsoid zones, right/left eye, mm: not defined, because of the loss of the ellipsoidal zone throughout the OCT slice; central scotoma size right/left eye: 60deg/60deg; mean retinal sensitivity right/left eye (dB): 0,3/0,1; electroretinogram: severely reduced" "16y" "" "p.G1961E" "" "" "" "" "" "rod-cone dystrophy" "" ""
"0000317632" "00347" "00426478" "00000" "Unknown" "85y" "complaints of gradual reduction of vision in both eyes, no associated pain or discharge. born to healthy, non-consanguineous parents; medical record revealed ischemic heart disease, primary hypertension and cerebral stroke; a history of heavy smoking in the previous 20 years (20 cigarettes/ day); lensectomy performed in the right eye 2 years before; ophthalmic examination: reduced visual acuity: best corrected visual acuity right, left eye: 20/800, 20/40, respectively, on the right and left eye; dilated fundus examination, macula examination with slit-lamp biomicroscopy and optical coherence tomography: early age-related macular degeneration on the left eye and exudative AMD on the right eye; fibrotic choroidal neovascularization confirmed in the right eye by fluorescein angiography" "85y" "" "gradual reduction of vision in both eyes" "" "" "" "" "" "macular degeneration, age-related (ARMD)" "" ""
"0000317765" "04214" "00426610" "00000" "Familial, X-linked" ">45y" "blurred central vision, photophobia, and nyctalopia since childhood; fundus autofluorescence: bull\'s-eye maculopathy, no flecks, intraretinal pigment migration, retinal vessel attenuation, or optic nerve pallor; previously clinically diagnosed as having STGD1; retinal disease was reported in his brother and maternal grandfather; proband\'s mother had reported being asymptomatic but was found to exhibit decreased visual acuity, bull\'s-eye maculopathy in the right eye, and tapetal reflex in both eyes; mean qAF values: within the range observed in healthy eyes, lower than in many patients of the same age with" "<18y" "" "nyctalopia" "" "" "" "" "" "retinitis pigmentosa" "Stargardt disease" ""
"0000317782" "05586" "00426630" "00000" "Unknown" "" "right cleft lip with palate" "" "" "" "" "" "" "" "" "nonsyndromic orofacial cleft" "" ""
"0000317783" "05586" "00426631" "00000" "Unknown" "" "left cleft lip" "" "" "" "" "" "" "" "" "nonsyndromic orofacial cleft" "" ""
"0000317784" "05586" "00426632" "00000" "Unknown" "" "unknown cleft palate" "" "" "" "" "" "" "" "" "nonsyndromic orofacial cleft" "" ""
"0000317785" "05586" "00426633" "00000" "Unknown" "" "bilateral cleft lip with palate" "" "" "" "" "" "" "" "" "nonsyndromic orofacial cleft" "" ""
"0000317786" "05586" "00426634" "00000" "Unknown" "" "left cleft lip" "" "" "" "" "" "" "" "" "nonsyndromic orofacial cleft" "" ""
"0000317801" "04214" "00426646" "00000" "Familial, autosomal recessive" "7y" "decimal best corrected visual acuity and refraction right, left eye: 0.35 (+ 2.50 diopter sphere) / 0.2 (+ 3.25 diopter sphere), 5y: best corrected visual acuity: nearly 1.0; slit-lamp examination: no remarkable findings; retinal examination: gray discoloration within the vascular arcade in the fundus photographs, fundus autofluorescence: hypoautofluorescent macular area with a hyperautofluorescent ring; optical coherence tomography: disrupted ellipsoid zone with foveal thinning; dark-adapted full-field electroretinogram right eye: non-recordable rod response to a weak flash (dark adaptation 0.01), severely decreased a- and b-wave responses to a strong flash (dark adaptation 3.0), but notably about one-third of normal response to a stronger flash (dark adaptation 200)" "" "" "" "" "" "" "" "" "congenital stationary night blindness and cone-rod dystrophy" "" ""
"0000317802" "04214" "00426647" "00000" "Familial, autosomal recessive" "5y" "5y: best corrected visual acuity and refraction right, left eye: 0.7 (+ 0.25 diopter sphere) / 0.7 (+ 0.25 diopter sphere); slit-lamp and funduscopy examination: no remarkable findings; fundus autofluorescence: a hyperautofluorescent ring around the macula; optical coherence tomography: a thickened external limiting membrane; 6y8m best corrected visual acuity right, left eye: decreased to 0.1 / 0.15; optical coherence tomography: disappearance of the thickened ELM and thinner foveal thickness compared to that at 5 years of age - progressive loss of visual acuity; dark-adapted full field electroretinography: very similar to those of patient III-1; photopic cone (light-adapted 3.0) and 30-Hz flicker (light-adapted 3.0 flicker) responses: severely decreased" "" "" "" "" "" "" "" "" "congenital stationary night blindness and cone-rod dystrophy" "" ""
"0000317807" "04214" "00426652" "00000" "Isolated (sporadic)" "52y" "52y: worsening of vision; bilateral metamorphopsia; best-corrected visual acuity right, left eye: 20/32, 20/63; biomicroscopic fundus examination: multiple yellowish flecks throughout the posterior pole, associated with retinal pigment epithelium mottling and atrophy, and neurosensory retinal detachment in both eyes; left eye, small retinal hemorrhages in the foveal region; fundus autofluorescence: several hyperautofluorescent lesions corresponding to the flecks visible on biomicroscopy; fluorescein angiography: dark choroid throughout the posterior pole, and both hyperfluorescent and hypofluorescent lesions, corresponding to the flecks and the retinal pigment epithelium abnormalities; choroidal neovascularizations with juxtafoveal location in the right eye, single subfoveal choroidal neovascularization in the left eye; optical coherence tomography: choroidal neovascularization complex associated with a neurosensory detachment; bilateral intravitreal ranibizumab injections 1 week apart; retreatment performed on the basis of the identification of any fluid on optical coherence tomography and leakage on fundus autofluorescence; 6 and 9 intravitreal ranibizumab injections administered in the right eye and left eye, respectively, over 30 months; follow-up, best-corrected visual acuity right, left eye: 20/100, 20/200; 2 small juxtafoveal choroidal neovascularizations in right eye showed a bridging phenomenon after 12 months, merging into a single juxtafoveal choroidal neovascularization; last examination, optical coherence tomography and fluorescein angiography: persistent activity of the choroidal neovascularization" "" "18y" "" "" "" "" "" "" "Stargardt disease" "" ""
"0000318041" "04214" "00426903" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "cone dystrophy" ""
"0000318050" "04214" "00426912" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "cone dystrophy" ""
"0000318070" "04214" "00426932" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "rod-cone dystrophy" "rod-cone dystrophy" ""
"0000318084" "04214" "00426946" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" "Stargardt disease" ""
"0000318085" "04214" "00426947" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" "Stargardt disease" ""
"0000318086" "04214" "00426948" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" "Stargardt disease" ""
"0000318087" "04214" "00426949" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" "Stargardt disease" ""
"0000318088" "04214" "00426950" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" "Stargardt disease" ""
"0000318670" "04214" "00427655" "00000" "Unknown" "77y" "At 77 years of age: best corrected visual acuity right/left eye: 0.3/0.3, 1996: mild atrophic changes in macula. 1997: parafoveal choroidal neovascularisation; electroretinogram: normal" "69y" "" "" "" "" "" "" "" "age-related maculopathy" "" ""
"0000318671" "04214" "00427656" "00000" "Unknown" "68y" "At 68 years of age: OD 0.1 OS 0.6, geographic atrophic changes in posterior pole surrounded by pisciform yellow flecks, decreased sensitivity of central visual field" "60y" "" "" "" "" "" "" "" "Late onset fundus flavimaculatus" "" ""
"0000318672" "04214" "00427657" "00000" "Unknown" "52y" "At 52 years of age: OD 0.1 OS 0.1, yellow pisciform flecks in posterior pole extending in periphery, relative central scotomas." "15y" "" "" "" "" "" "" "" "Fundus flavimaculatus" "" ""
"0000318673" "04214" "00427658" "00000" "Unknown" "40y" "At 40 years of age: OD 0.1 OS 0.05, discrete number of yellow flecks surrounding macula, mild atrophic changes, relative central scotomas" "14y" "" "" "" "" "" "" "" "Stargardt disease" "" ""
"0000318674" "04214" "00427659" "00000" "Unknown" "16y" "At 16 years of age: OD 0.05 OS 0.05 Age 10: abnormal macular reflex, yellow flecks in posterior pole extending to midperiphery. Age 14: flecks have disappeared, atrophy of macula. Central scotoma." "10y" "" "" "" "" "" "" "" "Stargardt disease or Cone-rod dystrophy" "" ""
"0000318675" "04214" "00427660" "00000" "Unknown" "75y" "At 75 years of age: best corrected visual acuity right/left eye: Hand motion/ Hand motion, age 54: atrophy mainly in posterior pole, age 75: widespread atrophy throughout retina, 1960: central scotomas of 15deg, 2003: impossible to perform visual fields." "20y" "" "" "" "" "" "" "" "Stargardt disease or Cone-rod dystrophy" "" ""
"0000318676" "04214" "00427661" "00000" "Unknown" "52y" "ophthalmoscopy: bull���s eye maculopathy, normal retinal vasculature; visual fields: very small central island (3deg). large absolute ring scotoma (30deg); fluorescein angiography: hypofluorescent ring surrounding hyperfluorescent macular centre, hyperfluorescent dots in periphery; electroretinogram: 1994: cone: severely reduced 1994: rod: mildly reduced; 2003: cone: severely reduced, rod: severely" ">20y" "" "" "" "" "" "" "" "cone-rod dystrophy" "" ""
"0000318677" "04214" "00427662" "00000" "Unknown" "41y" "At 17 years: macular pigment alterations, atrophic spots in retinal periphery. Age 40: extensive, central and midperipheral atrophy, attenuated vessels Large, absolute central scotomas of 60deg. Nasal constriction Age 17: numerous hyperfluorescent spots throughout retina. Age 27: central hyperfluorescent area due to confluent spots; electroretinogram: 1980: Cone: severely reduced, rod: normal/reduced; 1986: Cone: non-recordable, rod: reduced; 2003 cone and rod: non-recordable" "12y" "" "" "" "" "" "" "" "cone-rod dystrophy" "" ""
"0000318678" "04214" "00427663" "00000" "Unknown" "58y" "Extensive atrophy with almost complete loss of peripheral and central retinal functions. At 58 years of age: OD Hand motion OS Light perception, Age 17: macular pigment alterations, atrophic spots in retinal periphery. Age 40: extensive, central and midperipheral atrophy, attenuated vessels, large, absolute central scotomas of 60deg, nasal constriction." "7y" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" ""
"0000320354" "00112" "00429482" "04436" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000320387" "00112" "00429515" "04436" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000320393" "00112" "00429521" "04436" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000320395" "00112" "00429523" "04436" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000320399" "00112" "00429527" "04436" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000320409" "00112" "00429537" "04436" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000320433" "00112" "00429561" "04436" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000320490" "04210" "00429618" "04436" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000320504" "04214" "00429632" "04436" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000320512" "04210" "00429640" "04436" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000320519" "04210" "00429647" "04436" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000320548" "00112" "00429676" "04436" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000320594" "00112" "00429722" "04436" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000320636" "00112" "00429764" "04436" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000320692" "04210" "00429820" "04436" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000320703" "04210" "00429831" "04436" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000320733" "04214" "00429861" "04436" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000320807" "04210" "00429935" "04436" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000320822" "00112" "00429950" "04436" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000320840" "00112" "00429968" "04436" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000320878" "00112" "00430006" "04436" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000320879" "00112" "00430007" "04436" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000320880" "00112" "00430008" "04436" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000321006" "04210" "00430134" "04436" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000323095" "00420" "00432535" "04473" "Familial, autosomal recessive" "17y" "" "" "" "" "" "" "" "" "" "" "" ""
"0000323096" "00420" "00432536" "04473" "Familial, autosomal recessive" "18y" "" "" "" "" "" "" "" "" "" "" "" ""
"0000323097" "00420" "00432537" "04473" "Familial, autosomal recessive" "23y" "" "" "" "" "" "" "" "" "" "" "" ""
"0000323098" "00420" "00432538" "04473" "Familial, autosomal recessive" "17y" "" "" "" "" "" "" "" "" "" "" "" ""
"0000323100" "00420" "00432539" "04473" "Familial, autosomal recessive" "51y" "" "" "" "" "" "" "" "" "" "" "" ""
"0000323101" "00420" "00432540" "04473" "Familial, autosomal recessive" "18y" "" "" "" "" "" "" "" "" "" "" "" ""
"0000323102" "00420" "00432541" "04473" "Familial, autosomal recessive" "55y" "" "" "" "" "" "" "" "" "" "" "" ""
"0000323103" "00420" "00432542" "04473" "Familial, autosomal recessive" "55y" "" "" "" "" "" "" "" "" "" "" "" ""
"0000323104" "00420" "00432543" "04473" "Familial, autosomal recessive" "21y" "" "" "" "" "" "" "" "" "" "" "" ""
"0000323105" "00420" "00432544" "04473" "Familial, autosomal recessive" "22y" "" "" "" "" "" "" "" "" "" "" "" ""
"0000323106" "00420" "00432545" "04473" "Familial, autosomal recessive" "21y" "" "" "" "" "" "" "" "" "" "" "" ""
"0000323108" "00420" "00432546" "04473" "Familial, autosomal recessive" "30y" "" "" "" "" "" "" "" "" "" "" "" ""
"0000323109" "00420" "00432547" "04473" "Familial, autosomal recessive" "21y" "" "" "" "" "" "" "" "" "" "" "" ""
"0000323110" "00420" "00432548" "04473" "Familial, autosomal recessive" "23y" "" "" "" "" "" "" "" "" "" "" "" ""
"0000323111" "00420" "00432549" "04473" "Familial, autosomal recessive" "18y" "" "" "" "" "" "" "" "" "" "" "" ""
"0000323112" "00420" "00432550" "04473" "Familial, autosomal recessive" "45y" "" "" "" "" "" "" "" "" "" "" "" ""
"0000323429" "00420" "00432867" "04473" "Familial, autosomal recessive" "51y" "" "" "" "" "" "" "" "" "" "" "" ""
"0000323430" "00420" "00432868" "04473" "Familial, autosomal recessive" "27y" "" "" "" "" "" "" "" "" "" "" "" ""
"0000323431" "00420" "00432869" "04473" "Familial, autosomal recessive" "41" "" "" "" "" "" "" "" "" "" "" "" ""
"0000323432" "00420" "00432870" "04473" "Familial, autosomal recessive" "57y" "" "" "" "" "" "" "" "" "" "" "" ""
"0000323433" "00420" "00432871" "04473" "Familial, autosomal recessive" "49y" "" "" "" "" "" "" "" "" "" "" "" ""
"0000323434" "00420" "00432872" "04473" "Familial, autosomal recessive" "21y" "" "" "" "" "" "" "" "" "" "" "" ""
"0000323435" "00420" "00432873" "04473" "Familial, autosomal recessive" "10y" "" "" "" "" "" "" "" "" "" "" "" ""
"0000323436" "00420" "00432874" "04473" "Familial, autosomal recessive" "40y" "" "" "" "" "" "" "" "" "" "" "" ""
"0000323437" "00420" "00432875" "04473" "Familial, autosomal recessive" "67y" "" "" "" "" "" "" "" "" "" "" "" ""
"0000323438" "00420" "00432876" "04473" "Familial, autosomal recessive" "50y" "" "" "" "" "" "" "" "" "" "" "" ""
"0000323439" "00420" "00432877" "04473" "Familial, autosomal recessive" "27y" "" "" "" "" "" "" "" "" "" "" "" ""
"0000323440" "00420" "00432878" "04473" "Familial, autosomal recessive" "37y" "" "" "" "" "" "" "" "" "" "" "" ""
"0000323441" "00420" "00432879" "04473" "Familial, autosomal recessive" "34y" "" "" "" "" "" "" "" "" "" "" "" ""
"0000323442" "00420" "00432880" "04473" "Familial, autosomal recessive" "36y" "" "" "" "" "" "" "" "" "" "" "" ""
"0000323444" "00420" "00432882" "04473" "Familial, autosomal recessive" "58y" "" "" "" "" "" "" "" "" "" "" "" ""
"0000323445" "00420" "00432883" "04473" "Familial, autosomal recessive" "41y" "" "" "" "" "" "" "" "" "" "" "" ""
"0000323446" "00420" "00432884" "04473" "Familial, autosomal recessive" "37y" "" "" "" "" "" "" "" "" "" "" "" ""
"0000323447" "00420" "00432885" "04473" "Familial, autosomal recessive" "32y" "" "" "" "" "" "" "" "" "" "" "" ""
"0000323448" "00420" "00432886" "04473" "Familial, autosomal recessive" "43y" "" "" "" "" "" "" "" "" "" "" "" ""
"0000323449" "00420" "00432887" "04473" "Familial, autosomal recessive" "26y" "" "" "" "" "" "" "" "" "" "" "" ""
"0000323450" "00420" "00432888" "04473" "Familial, autosomal recessive" "24y" "" "" "" "" "" "" "" "" "" "" "" ""
"0000323451" "00420" "00432889" "04473" "Familial, autosomal recessive" "35y" "" "" "" "" "" "" "" "" "" "" "" ""
"0000323452" "00420" "00432890" "04473" "Familial, autosomal recessive" "36y" "" "" "" "" "" "" "" "" "" "" "" ""
"0000323453" "00420" "00432891" "04473" "Familial, autosomal recessive" "30y" "" "" "" "" "" "" "" "" "" "" "" ""
"0000323454" "00420" "00432892" "04473" "Familial, autosomal recessive" "56y" "" "" "" "" "" "" "" "" "" "" "" ""
"0000323455" "00420" "00432893" "04473" "Familial, autosomal recessive" "40y" "" "" "" "" "" "" "" "" "" "" "" ""
"0000323456" "00420" "00432894" "04473" "Familial, autosomal recessive" "64y" "" "" "" "" "" "" "" "" "" "" "" ""
"0000323457" "00420" "00432895" "04473" "Familial, autosomal recessive" "44y" "" "" "" "" "" "" "" "" "" "" "" ""
"0000323458" "00420" "00432896" "04473" "Familial, autosomal recessive" "32y" "" "" "" "" "" "" "" "" "" "" "" ""
"0000323459" "00420" "00432897" "04473" "Familial, autosomal recessive" "41y" "" "" "" "" "" "" "" "" "" "" "" ""
"0000323460" "00420" "00432898" "04473" "Familial, autosomal recessive" "25y" "" "" "" "" "" "" "" "" "" "" "" ""
"0000323461" "00420" "00432899" "04473" "Familial, autosomal recessive" "33y" "" "" "" "" "" "" "" "" "" "" "" ""
"0000323462" "00420" "00432900" "04473" "Familial, autosomal recessive" "41y" "" "" "" "" "" "" "" "" "" "" "" ""
"0000323463" "00420" "00432901" "04473" "Familial, autosomal recessive" "60y" "" "" "" "" "" "" "" "" "" "" "" ""
"0000323464" "00420" "00432902" "04473" "Familial, autosomal recessive" "12y" "" "" "" "" "" "" "" "" "" "" "" ""
"0000323465" "00420" "00432903" "04473" "Familial, autosomal recessive" "22y" "" "" "" "" "" "" "" "" "" "" "" ""
"0000323466" "00420" "00432904" "04473" "Familial, autosomal recessive" "17y" "" "" "" "" "" "" "" "" "" "" "" ""
"0000323467" "00420" "00432905" "04473" "Familial, autosomal recessive" "47y" "" "" "" "" "" "" "" "" "" "" "" ""
"0000323468" "00420" "00432906" "04473" "Familial, autosomal recessive" "11y" "" "" "" "" "" "" "" "" "" "" "" ""
"0000323469" "00420" "00432907" "04473" "Familial, autosomal recessive" "25y" "" "" "" "" "" "" "" "" "" "" "" ""
"0000323470" "00420" "00432908" "04473" "Familial, autosomal recessive" "26y" "" "" "" "" "" "" "" "" "" "" "" ""
"0000323471" "00420" "00432909" "04473" "Familial, autosomal recessive" "59" "" "" "" "" "" "" "" "" "" "" "" ""
"0000323472" "00420" "00432910" "04473" "Familial, autosomal recessive" "15y" "" "" "" "" "" "" "" "" "" "" "" ""
"0000323473" "00420" "00432911" "04473" "Familial, autosomal recessive" "15y" "" "" "" "" "" "" "" "" "" "" "" ""
"0000323474" "00420" "00432912" "04473" "Familial, autosomal recessive" "53y" "" "" "" "" "" "" "" "" "" "" "" ""
"0000323475" "00420" "00432913" "04473" "Familial, autosomal recessive" "23y" "" "" "" "" "" "" "" "" "" "" "" ""
"0000323476" "00420" "00432914" "04473" "Familial, autosomal recessive" "19y" "" "" "" "" "" "" "" "" "" "" "" ""
"0000323477" "00420" "00432915" "04473" "Familial, autosomal recessive" "45y" "" "" "" "" "" "" "" "" "" "" "" ""
"0000323478" "00420" "00432916" "04473" "Familial, autosomal recessive" "80y" "" "" "" "" "" "" "" "" "" "" "" ""
"0000323479" "00420" "00432917" "04473" "Familial, autosomal recessive" "47y" "" "" "" "" "" "" "" "" "" "" "" ""
"0000323480" "00420" "00432918" "04473" "Familial, autosomal recessive" "43y" "" "" "" "" "" "" "" "" "" "" "" ""
"0000323481" "00420" "00432919" "04473" "Familial, autosomal recessive" "60y" "" "" "" "" "" "" "" "" "" "" "" ""
"0000323482" "00420" "00432920" "04473" "Familial, autosomal recessive" "24y" "" "" "" "" "" "" "" "" "" "" "" ""
"0000323483" "00420" "00432921" "04473" "Familial, autosomal recessive" "09y" "" "" "" "" "" "" "" "" "" "" "" ""
"0000325350" "00420" "00435116" "04506" "Familial, autosomal recessive" "67y" "visual acuity (logMAR) OS1.3 OD1.3; oss of photoreceptors in foveal region; fundus autofluorescence patchy areas of hypo-autofluorescence posterior pole, preservation peripapillary regions; 57y-ECG severe cone and rod responses" "21y" "21y?" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000325351" "00420" "00435118" "04506" "Familial, autosomal recessive" "48y" "visual acuity (logMAR) OS0 OD0; loss photoreceptors perifoveal region; fundus autofluorescence area of RPE atrophy and hypo-autofluorescence; ECG severe alterations rod responses and moderate–severe alterations cones" "" "41y" "" "" "" "" "" "" "STGD1" "Stargardt disease" ""
"0000325654" "06495" "00435464" "00006" "Familial, autosomal recessive" "" "see paper; ..., 2y-weight 10.3 kg (8th), height 77.3 cm (5th), OFC 52.5 cm (>98th), BMI 30 kg/m2 (96th); Rhizomelic short stature most evident in upper extremity, prominent fingertip pads and simian crease left, flattening of dorsal aspect skull indicative of plagiocephaly but otherwise grossly normal; macrocephaly, short neck, micrognathia, mild proptosis, depressed nasal bridge, long smooth philtrum; difficulty gaining weight, receives physical and speech therapies, central hypotonia, bilateral mild conductive hearing loss, laryngomalacia, poplyploid anal mass which had decreased in size, brisk deep tendon reflexesMRI brain <1y-mildly delayed myelination, benign enlargement of subarachnoid spaces of infancy without aqueductal stenosis, craniocervical junction anomalies cervical region of the spine; heart murmur, mildly increased velocity in the suprapulmonic region with no pulmonary valve stenosis, a small patent foramen ovale with left to right shunting, and mild tricuspid regurgitation" "" "<00y06m" "" "" "" "" "" "" "RLSDF" "rhizomelic shortening of limbs, dysmorphic features" ""
"0000325915" "04214" "00435731" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000325916" "04214" "00435732" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000325917" "04214" "00435733" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000325918" "04214" "00435734" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000325919" "04214" "00435735" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "CD-I" ""
"0000325920" "04214" "00435736" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000325921" "04214" "00435737" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "MD" ""
"0000325922" "04214" "00435738" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000325923" "04214" "00435739" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000325924" "04214" "00435740" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "MD" ""
"0000325925" "04214" "00435741" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "MD" ""
"0000325926" "04214" "00435742" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "MD" ""
"0000325927" "04214" "00435743" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "RPED-BEM" ""
"0000325928" "04214" "00435744" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000325929" "04214" "00435745" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000325930" "04214" "00435746" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000325931" "04214" "00435747" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000325932" "04214" "00435748" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000325933" "04214" "00435749" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000325934" "04214" "00435750" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000325935" "04214" "00435751" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000325936" "04214" "00435752" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000325937" "04214" "00435753" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000325938" "04214" "00435754" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000325939" "04214" "00435755" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000325940" "04214" "00435756" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000325941" "04214" "00435757" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000325942" "04214" "00435758" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000325943" "04214" "00435759" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000325944" "04214" "00435760" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000325945" "04214" "00435761" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000325946" "04214" "00435762" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000325947" "04214" "00435763" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000325948" "04214" "00435764" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000325949" "04214" "00435765" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000325950" "04214" "00435766" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000325951" "04214" "00435767" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000325952" "04214" "00435768" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000325953" "04214" "00435769" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000325954" "04214" "00435770" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000325955" "04214" "00435771" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000325956" "04214" "00435772" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000325957" "04214" "00435773" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "RPED" ""
"0000325958" "04214" "00435774" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "RPED-BEM" ""
"0000325959" "04214" "00435775" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000325960" "04214" "00435776" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000325961" "04214" "00435777" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000325962" "04214" "00435778" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000325963" "04214" "00435779" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000325964" "04214" "00435780" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000325965" "04214" "00435781" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000325966" "04214" "00435782" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000325967" "04214" "00435783" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000325968" "04214" "00435784" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000325969" "04214" "00435785" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000325970" "04214" "00435786" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000325971" "04214" "00435787" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000325972" "04214" "00435788" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000325973" "04214" "00435789" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000325974" "04214" "00435790" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000325975" "04214" "00435791" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000325976" "04214" "00435792" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000325977" "04214" "00435793" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000325978" "04214" "00435794" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000325979" "04214" "00435795" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000325980" "04214" "00435796" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000325981" "04214" "00435797" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000325982" "04214" "00435798" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000325983" "04214" "00435799" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000325984" "04214" "00435800" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000325985" "04214" "00435801" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000325986" "04214" "00435802" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000325987" "04214" "00435803" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000325988" "04214" "00435804" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "CRD" ""
"0000325989" "04214" "00435805" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000325990" "04214" "00435806" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000325991" "04214" "00435807" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000325992" "04214" "00435808" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000325993" "04214" "00435809" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000325994" "04214" "00435810" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "MD" ""
"0000325995" "04214" "00435811" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000325996" "04214" "00435812" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000325997" "04214" "00435813" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "MD" ""
"0000325998" "04214" "00435814" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000325999" "04214" "00435815" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326000" "04214" "00435816" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326001" "04214" "00435817" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "MD" ""
"0000326002" "04214" "00435818" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326003" "04214" "00435819" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "MD" ""
"0000326004" "04214" "00435820" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326005" "04214" "00435821" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "CRD" ""
"0000326006" "04214" "00435822" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326007" "04214" "00435823" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326008" "04214" "00435824" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "CRD" ""
"0000326009" "04214" "00435825" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326010" "04214" "00435826" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326011" "04214" "00435827" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326012" "04214" "00435828" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326013" "04214" "00435829" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326014" "04214" "00435830" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326015" "04214" "00435831" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326016" "04214" "00435832" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326017" "04214" "00435833" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326018" "04214" "00435834" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326019" "04214" "00435835" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326020" "04214" "00435836" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326021" "04214" "00435837" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "CD" ""
"0000326022" "04214" "00435838" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "CD" ""
"0000326023" "04214" "00435839" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "CRD" ""
"0000326024" "04214" "00435840" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "RD" ""
"0000326025" "04214" "00435841" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "CRD" ""
"0000326026" "04214" "00435842" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "CD" ""
"0000326027" "04214" "00435843" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "CD" ""
"0000326028" "04214" "00435844" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "MD-PS" ""
"0000326029" "04214" "00435845" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "MD-PS" ""
"0000326030" "04214" "00435846" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "CRD" ""
"0000326031" "04214" "00435847" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326032" "04214" "00435848" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326033" "04214" "00435849" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "CRD" ""
"0000326034" "04214" "00435850" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326035" "04214" "00435851" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326036" "04214" "00435852" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326037" "04214" "00435853" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326038" "04214" "00435854" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326039" "04214" "00435855" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326040" "04214" "00435856" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326041" "04214" "00435857" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326042" "04214" "00435858" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326043" "04214" "00435859" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326044" "04214" "00435860" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326045" "04214" "00435861" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326046" "04214" "00435862" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326047" "04214" "00435863" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326048" "04214" "00435864" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326049" "04214" "00435865" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326050" "04214" "00435866" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326051" "04214" "00435867" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326052" "04214" "00435868" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326053" "04214" "00435869" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326054" "04214" "00435870" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326055" "04214" "00435871" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326056" "04214" "00435872" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326057" "04214" "00435873" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326058" "04214" "00435874" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326059" "04214" "00435875" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326060" "04214" "00435876" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326061" "04214" "00435877" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326062" "04214" "00435878" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326063" "04214" "00435879" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "CRD" ""
"0000326064" "04214" "00435880" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326065" "04214" "00435881" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326066" "04214" "00435882" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "CRD" ""
"0000326067" "04214" "00435883" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326068" "04214" "00435884" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326069" "04214" "00435885" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326070" "04214" "00435886" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326071" "04214" "00435887" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326072" "04214" "00435888" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "CRD" ""
"0000326073" "04214" "00435889" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "MD" ""
"0000326074" "04214" "00435890" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326075" "04214" "00435891" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "CRD" ""
"0000326076" "04214" "00435892" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326077" "04214" "00435893" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "CRD" ""
"0000326078" "04214" "00435894" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "CRD" ""
"0000326079" "04214" "00435895" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "CRD" ""
"0000326080" "04214" "00435896" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "CRD" ""
"0000326081" "04214" "00435897" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "MD" ""
"0000326082" "04214" "00435898" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "CRD" ""
"0000326083" "04214" "00435899" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD" ""
"0000326084" "04214" "00435900" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "CRD" ""
"0000326085" "04214" "00435901" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326086" "04214" "00435902" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326087" "04214" "00435903" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "CRD" ""
"0000326088" "04214" "00435904" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326089" "04214" "00435905" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326090" "04214" "00435906" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "CRD" ""
"0000326091" "04214" "00435907" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326092" "04214" "00435908" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326093" "04214" "00435909" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326094" "04214" "00435910" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326095" "04214" "00435911" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326096" "04214" "00435912" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "RP" ""
"0000326097" "04214" "00435913" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326098" "04214" "00435914" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326099" "04214" "00435915" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326100" "04214" "00435916" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326101" "04214" "00435917" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326102" "04214" "00435918" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326103" "04214" "00435919" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326104" "04214" "00435920" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326105" "04214" "00435921" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326106" "04214" "00435922" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326107" "04214" "00435923" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326108" "04214" "00435924" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326109" "04214" "00435925" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326110" "04214" "00435926" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326111" "04214" "00435927" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326112" "04214" "00435928" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326113" "04214" "00435929" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326114" "04214" "00435930" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326115" "04214" "00435931" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326116" "04214" "00435932" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326117" "04214" "00435933" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326118" "04214" "00435934" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326119" "04214" "00435935" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326120" "04214" "00435936" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326121" "04214" "00435937" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326122" "04214" "00435938" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326123" "04214" "00435939" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326124" "04214" "00435940" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326125" "04214" "00435941" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326126" "04214" "00435942" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326127" "04214" "00435943" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326128" "04214" "00435944" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326129" "04214" "00435945" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326130" "04214" "00435946" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "USH" ""
"0000326131" "04214" "00435947" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "CRD" ""
"0000326132" "04214" "00435948" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326133" "04214" "00435949" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "CRD" ""
"0000326134" "04214" "00435950" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326135" "04214" "00435951" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "CRD" ""
"0000326136" "04214" "00435952" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "CRD" ""
"0000326137" "04214" "00435953" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326138" "04214" "00435954" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326139" "04214" "00435955" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "MD" ""
"0000326140" "04214" "00435956" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326141" "04214" "00435957" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326142" "04214" "00435958" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326143" "04214" "00435959" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326144" "04214" "00435960" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326145" "04214" "00435961" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "CRD" ""
"0000326146" "04214" "00435962" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "MD" ""
"0000326147" "04214" "00435963" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "MD" ""
"0000326148" "04214" "00435964" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326149" "04214" "00435965" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326150" "04214" "00435966" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "CRD" ""
"0000326151" "04214" "00435967" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "CRD" ""
"0000326152" "04214" "00435968" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "CRD" ""
"0000326153" "04214" "00435969" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "CRD" ""
"0000326154" "04214" "00435970" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "CRD" ""
"0000326155" "04214" "00435971" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "CRD" ""
"0000326156" "04214" "00435972" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "CRD" ""
"0000326157" "04214" "00435973" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "CRD" ""
"0000326158" "04214" "00435974" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326159" "04214" "00435975" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326160" "04214" "00435976" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326161" "04214" "00435977" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326162" "04214" "00435978" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326163" "04214" "00435979" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326164" "04214" "00435980" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326165" "04214" "00435981" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326166" "04214" "00435982" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326167" "04214" "00435983" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326168" "04214" "00435984" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326169" "04214" "00435985" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326170" "04214" "00435986" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326171" "04214" "00435987" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326172" "04214" "00435988" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326173" "04214" "00435989" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326174" "04214" "00435990" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326175" "04214" "00435991" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326176" "04214" "00435992" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326177" "04214" "00435993" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326178" "04214" "00435994" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326179" "04214" "00435995" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326180" "04214" "00435996" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326181" "04214" "00435997" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326182" "04214" "00435998" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326183" "04214" "00435999" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326184" "04214" "00436000" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326185" "04214" "00436001" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326186" "04214" "00436002" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326187" "04214" "00436003" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326188" "04214" "00436004" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326189" "04214" "00436005" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326190" "04214" "00436006" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326191" "04214" "00436007" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326192" "04214" "00436008" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326193" "04214" "00436009" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326194" "04214" "00436010" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326195" "04214" "00436011" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326196" "04214" "00436012" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326197" "04214" "00436013" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "CRD" ""
"0000326198" "04214" "00436014" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "MD" ""
"0000326199" "04214" "00436015" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD" ""
"0000326200" "04214" "00436016" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD" ""
"0000326201" "04214" "00436017" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD" ""
"0000326202" "04214" "00436018" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD" ""
"0000326203" "04214" "00436019" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD" ""
"0000326204" "04214" "00436020" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD" ""
"0000326205" "04214" "00436021" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD" ""
"0000326206" "04214" "00436022" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD" ""
"0000326207" "04214" "00436023" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD" ""
"0000326208" "04214" "00436024" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD" ""
"0000326209" "04214" "00436025" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD" ""
"0000326210" "04214" "00436026" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD" ""
"0000326211" "04214" "00436027" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326212" "04214" "00436028" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "CRD" ""
"0000326213" "04214" "00436029" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326214" "04214" "00436030" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "CD" ""
"0000326215" "04214" "00436031" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326216" "04214" "00436032" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326217" "04214" "00436033" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326218" "04214" "00436034" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326219" "04214" "00436035" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326220" "04214" "00436036" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326221" "04214" "00436037" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326222" "04214" "00436038" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326223" "04214" "00436039" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326224" "04214" "00436040" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "CD-i" ""
"0000326225" "04214" "00436041" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326226" "04214" "00436042" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326227" "04214" "00436043" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326228" "04214" "00436044" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326229" "04214" "00436045" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326230" "04214" "00436046" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326231" "04214" "00436047" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326232" "04214" "00436048" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326233" "04214" "00436049" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326234" "04214" "00436050" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326235" "04214" "00436051" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326236" "04214" "00436052" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326237" "04214" "00436053" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326238" "04214" "00436054" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "MD" ""
"0000326239" "04214" "00436055" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326240" "04214" "00436056" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326241" "04214" "00436057" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326242" "04214" "00436058" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "RD-i" ""
"0000326243" "04214" "00436059" "04536" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "STGD1" ""
"0000326624" "02156" "00436446" "04552" "Familial, autosomal recessive" "33y" "Reduced visual acuity HP:0007663; Nyctalopia HP:0000662; Peripheral visual field loss HP:0007994; Retinitis pigmentosa HP:0000510" "27y" "27y" "27y" "" "" "" "" "" "RP19" "Retinitis pigmentosa" ""
"0000326643" "04215" "00436466" "04552" "Unknown" "13y" "Photophobia HP:0000613, Reduced visual acuity HP:0007663, Large central visual field defect HP:0001129, Color vision defect HP: 0000551, Central scotoma HP: 0000603, Abnormality of macular pigmentation HP: 0008002" "13y" "23y" "13y" "" "" "" "" "" "STGD1" "Stargardt" ""
"0000326644" "04215" "00436464" "04552" "-" "01y" "Photophobia HP:0000613, Reduced visual acuity HP:0007663, Large central visual field defect HP:0001129, Color vision defect HP: 0000551, Central scotoma HP: 0000603, Abnormality of macular pigmentation HP: 0008002, Moderate sensorineural hearing impairment HP:0008504" "01y" "10y" "" "" "" "" "" "" "STGD1;USH2A" "Stargardt" ""
"0000326645" "04215" "00436467" "04552" "Unknown" "39y" "Photophobia HP:0000613, Reduced visual acuity HP:0007663, Large central visual field defect HP:0001129, Color vision defect HP: 0000551, Central scotoma HP: 0000603, Abnormality of macular pigmentation HP: 0008002" "06y" "39y" "6y" "" "" "" "" "" "STGD1" "Stargardt" ""
"0000326646" "04215" "00436468" "04552" "Unknown" "36y" "Photophobia HP:0000613, Reduced visual acuity HP:0007663, Large central visual field defect HP:0001129, Color vision defect HP: 0000551, Central scotoma HP: 0000603, Abnormality of macular pigmentation HP: 0008002" "07y" "36y" "7y" "" "" "" "" "" "STGD1" "Stargardt" ""
"0000326647" "04215" "00436469" "04552" "Familial, autosomal recessive" "36y" "Photophobia HP:0000613, Reduced visual acuity HP:0007663, Large central visual field defect HP:0001129, Color vision defect HP: 0000551, Central scotoma HP: 0000603, Abnormality of macular pigmentation HP: 0008002" "07y" "36y" "7y" "" "" "" "" "" "STGD1" "Stargardt" ""
"0000326648" "04215" "00436470" "04552" "Familial, autosomal recessive" "31y" "Photophobia HP:0000613, Reduced visual acuity HP:0007663, Large central visual field defect HP:0001129, Color vision defect HP: 0000551, Central scotoma HP: 0000603, Abnormality of macular pigmentation HP: 0008002" "12y" "31y" "12y" "" "" "" "" "" "STGD1" "Stargardt" ""
"0000326649" "04215" "00436471" "04552" "Familial, autosomal recessive" "31y" "Photophobia HP:0000613, Reduced visual acuity HP:0007663, Large central visual field defect HP:0001129, Color vision defect HP: 0000551, Central scotoma HP: 0000603, Abnormality of macular pigmentation HP: 0008002" "24y" "31y" "24y" "" "" "" "" "" "STGD1" "Stargardt" ""
"0000326651" "04215" "00436473" "04552" "Familial, autosomal recessive" "52y" "Photophobia HP:0000613, Reduced visual acuity HP:0007663, Large central visual field defect HP:0001129, Color vision defect HP: 0000551, Central scotoma HP: 0000603, Abnormality of macular pigmentation HP: 0008002" "06y" "52y" "6y" "" "" "" "" "" "STGD1" "Stargardt" ""
"0000326653" "04215" "00436475" "04552" "Familial, autosomal recessive" "44y" "Photophobia HP:0000613, Reduced visual acuity HP:0007663, Large central visual field defect HP:0001129, Color vision defect HP: 0000551, Central scotoma HP: 0000603, Abnormality of macular pigmentation HP: 0008002" "08y" "44y" "8y" "" "" "" "" "" "STGD1" "Stargardt" ""
"0000326654" "04215" "00436476" "04552" "Familial, autosomal recessive" "55y" "Photophobia HP:0000613, Reduced visual acuity HP:0007663, Large central visual field defect HP:0001129, Color vision defect HP: 0000551, Central scotoma HP: 0000603, Abnormality of macular pigmentation HP: 0008002" "17y" "55y" "17y" "" "" "" "" "" "STGD1" "Stargardt" ""
"0000326655" "04215" "00436477" "04552" "Familial, autosomal recessive" "17y" "Photophobia HP:0000613, Reduced visual acuity HP:0007663, Large central visual field defect HP:0001129, Color vision defect HP: 0000551, Central scotoma HP: 0000603, Abnormality of macular pigmentation HP: 0008002" "12y" "17y" "12y" "" "" "" "" "" "STGD1" "Stargardt" ""
"0000326656" "04215" "00436478" "04552" "Familial, autosomal recessive" "36y" "Photophobia HP:0000613, Reduced visual acuity HP:0007663, Large central visual field defect HP:0001129, Color vision defect HP: 0000551, Central scotoma HP: 0000603, Abnormality of macular pigmentation HP: 0008002" "20y" "36y" "20y" "" "" "" "" "" "STGD1" "Stargardt" ""
"0000326657" "04215" "00436479" "04552" "Familial, autosomal recessive" "41y" "Photophobia HP:0000613, Reduced visual acuity HP:0007663, Large central visual field defect HP:0001129, Color vision defect HP: 0000551, Central scotoma HP: 0000603, Abnormality of macular pigmentation HP: 0008002" "35y" "41y" "35y" "" "" "" "" "" "STGD1" "Stargardt" ""
"0000326759" "04215" "00436613" "04552" "Familial, autosomal recessive" "08y" "Photophobia HP:0000613, Reduced visual acuity HP:0007663, Large central visual field defect HP:0001129, Color vision defect HP: 0000551, Central scotoma HP: 0000603, Abnormality of macular pigmentation HP: 0008002" "08y" "18y" "" "" "" "" "" "" "# 248200" "Stargardt disease" ""
"0000326760" "04215" "00436614" "04552" "Familial, autosomal recessive" "05y" "Photophobia HP:0000613, Reduced visual acuity HP:0007663, Large central visual field defect HP:0001129, Color vision defect HP: 0000551, Central scotoma HP: 0000603, Abnormality of macular pigmentation HP: 0008002" "05y" "13y" "" "" "" "" "" "" "# 248200" "Stargardt disease" ""
"0000326790" "04214" "00436676" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000326791" "04214" "00436677" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000326792" "04214" "00436678" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000326793" "04214" "00436679" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000326794" "04214" "00436680" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000326795" "04214" "00436681" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000326796" "04214" "00436682" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000326797" "04214" "00436683" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000326798" "04214" "00436684" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000326799" "04214" "00436685" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000326800" "04214" "00436686" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000326801" "04214" "00436687" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000326802" "04214" "00436688" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "cone-rod dystrophy/retinitis pigmentosa" ""
"0000326803" "04214" "00436689" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000326804" "04214" "00436690" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000326805" "04214" "00436691" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000326806" "04214" "00436692" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000326807" "04214" "00436693" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "cone-rod dystrophy/Stargardt disease" ""
"0000326808" "04214" "00436694" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000326809" "04214" "00436695" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "cone dystrophy" ""
"0000326810" "04214" "00436696" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "cone dystrophy" ""
"0000326811" "04214" "00436697" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "cone dystrophy" ""
"0000326812" "04214" "00436698" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000326813" "04214" "00436699" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000326814" "04214" "00436700" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000326815" "04214" "00436701" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000326816" "04214" "00436702" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000326817" "04214" "00436703" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "cone dystrophy/cone-rod dystrophy" ""
"0000326818" "04214" "00436704" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "adult vitelliform macular dystrophy" ""
"0000326819" "04214" "00436705" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000326820" "04214" "00436706" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000326821" "04214" "00436707" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000326822" "04214" "00436708" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000326823" "04214" "00436709" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000326824" "04214" "00436710" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000326825" "04214" "00436711" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000326826" "04214" "00436712" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000326827" "04214" "00436713" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000326828" "04214" "00436714" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000326829" "04214" "00436715" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000326830" "04214" "00436716" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000326831" "04214" "00436717" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000326832" "04214" "00436718" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000326833" "04214" "00436719" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000326834" "04214" "00436720" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000326835" "04214" "00436721" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000326836" "04214" "00436722" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000326837" "04214" "00436723" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000326838" "04214" "00436724" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000326839" "04214" "00436725" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000326840" "04214" "00436726" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000326841" "04214" "00436727" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000326842" "04214" "00436728" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000326843" "04214" "00436729" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000326844" "04214" "00436730" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000326845" "04214" "00436731" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000328883" "04214" "00438985" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000328884" "04214" "00438986" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000328885" "04214" "00438987" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000328886" "04214" "00438988" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000328887" "04214" "00438989" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000328888" "04214" "00438990" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000328889" "04214" "00438991" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000328890" "04214" "00438992" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000328891" "04214" "00438993" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000328892" "04214" "00438994" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000328893" "04214" "00438995" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000328894" "04214" "00438996" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000328895" "04214" "00438997" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000328896" "04214" "00438998" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000328897" "04214" "00438999" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000328898" "04214" "00439000" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000328899" "04214" "00439001" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000328900" "04214" "00439002" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000328901" "04214" "00439003" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000328902" "04214" "00439004" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MD" "retinal disease" ""
"0000328903" "04214" "00439005" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000328904" "04214" "00439006" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000328905" "04214" "00439007" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000328906" "04214" "00439008" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000328907" "04214" "00439009" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000328908" "04214" "00439010" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000328909" "04214" "00439011" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000328910" "04214" "00439012" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000328911" "04214" "00439013" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000328912" "04214" "00439014" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000328913" "04214" "00439015" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000328914" "04214" "00439016" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000328915" "04214" "00439017" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000328916" "04214" "00439018" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000328917" "04214" "00439019" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000328918" "04214" "00439020" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000328919" "04214" "00439021" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000328920" "04214" "00439022" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000328921" "04214" "00439023" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000328922" "04214" "00439024" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000328923" "04214" "00439025" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000328924" "04214" "00439026" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000328925" "04214" "00439027" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "ARRP" "retinal disease" ""
"0000328926" "04214" "00439028" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000328927" "04214" "00439029" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000328928" "04214" "00439030" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000328929" "04214" "00439031" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000328930" "04214" "00439032" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000328931" "04214" "00439033" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000328932" "04214" "00439034" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000328933" "04214" "00439035" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000328934" "04214" "00439036" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000328935" "04214" "00439037" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000328936" "04214" "00439038" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000328937" "04214" "00439039" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000328938" "04214" "00439040" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000328939" "04214" "00439041" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000328940" "04214" "00439042" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000328941" "04214" "00439043" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000328942" "04214" "00439044" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000328943" "04214" "00439045" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000328944" "04214" "00439046" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000328945" "04214" "00439047" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000328946" "04214" "00439048" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000328947" "04214" "00439049" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000328948" "04214" "00439050" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "VMD" "retinal disease" ""
"0000328949" "04214" "00439051" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000328950" "04214" "00439052" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000328951" "04214" "00439053" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000328952" "04214" "00439054" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000328953" "04214" "00439055" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000328954" "04214" "00439056" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000328955" "04214" "00439057" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000328956" "04214" "00439058" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000328957" "04214" "00439059" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000328958" "04214" "00439060" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000328959" "04214" "00439061" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000328960" "04214" "00439062" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000328961" "04214" "00439063" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000328962" "04214" "00439064" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000328963" "04214" "00439065" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000328964" "04214" "00439066" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000328965" "04214" "00439067" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000328966" "04214" "00439068" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000328967" "04214" "00439069" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000328968" "04214" "00439070" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000328969" "04214" "00439071" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000328970" "04214" "00439072" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000328971" "04214" "00439073" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000328972" "04214" "00439074" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000328973" "04214" "00439075" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000328974" "04214" "00439076" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000328975" "04214" "00439077" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000328976" "04214" "00439078" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000328977" "04214" "00439079" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000328978" "04214" "00439080" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000328979" "04214" "00439081" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000328980" "04214" "00439082" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000328981" "04214" "00439083" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000328982" "04214" "00439084" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000328983" "04214" "00439085" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000328984" "04214" "00439086" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000328985" "04214" "00439087" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000328986" "04214" "00439088" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000328987" "04214" "00439089" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000328988" "04214" "00439090" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000328989" "04214" "00439091" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000328990" "04214" "00439092" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000328991" "04214" "00439093" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000328992" "04214" "00439094" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000328993" "04214" "00439095" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MD" "retinal disease" ""
"0000328994" "04214" "00439096" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000328995" "04214" "00439097" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000328996" "04214" "00439098" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000328997" "04214" "00439099" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000328998" "04214" "00439100" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000328999" "04214" "00439101" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329000" "04214" "00439102" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329001" "04214" "00439103" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "ARRP" "retinal disease" ""
"0000329002" "04214" "00439104" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329003" "04214" "00439105" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329004" "04214" "00439106" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329005" "04214" "00439107" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CRD" "retinal disease" ""
"0000329006" "04214" "00439108" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329007" "04214" "00439109" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329008" "04214" "00439110" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CD" "retinal disease" ""
"0000329009" "04214" "00439111" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329010" "04214" "00439112" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329011" "04214" "00439113" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329012" "04214" "00439114" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329013" "04214" "00439115" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329014" "04214" "00439116" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329015" "04214" "00439117" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329016" "04214" "00439118" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329017" "04214" "00439119" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329018" "04214" "00439120" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329019" "04214" "00439121" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329020" "04214" "00439122" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329021" "04214" "00439123" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329022" "04214" "00439124" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329023" "04214" "00439125" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329024" "04214" "00439126" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329025" "04214" "00439127" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CD" "retinal disease" ""
"0000329026" "04214" "00439128" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329027" "04214" "00439129" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329028" "04214" "00439130" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MD" "retinal disease" ""
"0000329029" "04214" "00439131" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329030" "04214" "00439132" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MD" "retinal disease" ""
"0000329031" "04214" "00439133" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MD" "retinal disease" ""
"0000329032" "04214" "00439134" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329033" "04214" "00439135" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MD" "retinal disease" ""
"0000329034" "04214" "00439136" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329035" "04214" "00439137" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329036" "04214" "00439138" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329037" "04214" "00439139" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MD" "retinal disease" ""
"0000329038" "04214" "00439140" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329039" "04214" "00439141" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329040" "04214" "00439142" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329041" "04214" "00439143" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329042" "04214" "00439144" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329043" "04214" "00439145" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329044" "04214" "00439146" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329045" "04214" "00439147" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329046" "04214" "00439148" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329047" "04214" "00439149" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MD" "retinal disease" ""
"0000329048" "04214" "00439150" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329049" "04214" "00439151" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329050" "04214" "00439152" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329051" "04214" "00439153" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329052" "04214" "00439154" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329053" "04214" "00439155" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329054" "04214" "00439156" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329055" "04214" "00439157" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329056" "04214" "00439158" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329057" "04214" "00439159" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329058" "04214" "00439160" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329059" "04214" "00439161" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MD" "retinal disease" ""
"0000329060" "04214" "00439162" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329061" "04214" "00439163" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329062" "04214" "00439164" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329063" "04214" "00439165" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329064" "04214" "00439166" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329065" "04214" "00439167" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329066" "04214" "00439168" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329067" "04214" "00439169" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329068" "04214" "00439170" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329069" "04214" "00439171" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329070" "04214" "00439172" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329071" "04214" "00439173" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329072" "04214" "00439174" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329073" "04214" "00439175" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329074" "04214" "00439176" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329075" "04214" "00439177" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329076" "04214" "00439178" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329077" "04214" "00439179" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329078" "04214" "00439180" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329079" "04214" "00439181" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329080" "04214" "00439182" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329081" "04214" "00439183" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329082" "04214" "00439184" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329083" "04214" "00439185" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329084" "04214" "00439186" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329085" "04214" "00439187" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329086" "04214" "00439188" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MD" "retinal disease" ""
"0000329087" "04214" "00439189" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MD" "retinal disease" ""
"0000329088" "04214" "00439190" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329089" "04214" "00439191" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329090" "04214" "00439192" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329091" "04214" "00439193" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329092" "04214" "00439194" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329093" "04214" "00439195" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "RD" "retinal disease" ""
"0000329094" "04214" "00439196" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329095" "04214" "00439197" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329096" "04214" "00439198" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329097" "04214" "00439199" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329098" "04214" "00439200" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329099" "04214" "00439201" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329100" "04214" "00439202" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329101" "04214" "00439203" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329102" "04214" "00439204" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329103" "04214" "00439205" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329104" "04214" "00439206" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329105" "04214" "00439207" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329106" "04214" "00439208" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MD" "retinal disease" ""
"0000329107" "04214" "00439209" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329108" "04214" "00439210" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329109" "04214" "00439211" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329110" "04214" "00439212" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329111" "04214" "00439213" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329112" "04214" "00439214" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329113" "04214" "00439215" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MD" "retinal disease" ""
"0000329114" "04214" "00439216" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329115" "04214" "00439217" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329116" "04214" "00439218" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329117" "04214" "00439219" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329118" "04214" "00439220" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329119" "04214" "00439221" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329120" "04214" "00439222" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329121" "04214" "00439223" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329122" "04214" "00439224" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329123" "04214" "00439225" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329124" "04214" "00439226" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329125" "04214" "00439227" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329126" "04214" "00439228" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329127" "04214" "00439229" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329128" "04214" "00439230" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329129" "04214" "00439231" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329130" "04214" "00439232" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329131" "04214" "00439233" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329132" "04214" "00439234" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329133" "04214" "00439235" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329134" "04214" "00439236" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329135" "04214" "00439237" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329136" "04214" "00439238" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329137" "04214" "00439239" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329138" "04214" "00439240" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329139" "04214" "00439241" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329140" "04214" "00439242" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329141" "04214" "00439243" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329142" "04214" "00439244" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329143" "04214" "00439245" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MD" "retinal disease" ""
"0000329144" "04214" "00439246" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329145" "04214" "00439247" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329146" "04214" "00439248" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329147" "04214" "00439249" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329148" "04214" "00439250" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329149" "04214" "00439251" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329150" "04214" "00439252" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CRD" "retinal disease" ""
"0000329151" "04214" "00439253" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329152" "04214" "00439254" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329153" "04214" "00439255" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MD" "retinal disease" ""
"0000329154" "04214" "00439256" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329155" "04214" "00439257" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329156" "04214" "00439258" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329157" "04214" "00439259" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329158" "04214" "00439260" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329159" "04214" "00439261" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MD" "retinal disease" ""
"0000329160" "04214" "00439262" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329161" "04214" "00439263" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329162" "04214" "00439264" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329163" "04214" "00439265" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329164" "04214" "00439266" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329165" "04214" "00439267" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329166" "04214" "00439268" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329167" "04214" "00439269" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MD" "retinal disease" ""
"0000329168" "04214" "00439270" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329169" "04214" "00439271" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329170" "04214" "00439272" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329171" "04214" "00439273" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329172" "04214" "00439274" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329173" "04214" "00439275" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329174" "04214" "00439276" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329175" "04214" "00439277" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329176" "04214" "00439278" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329177" "04214" "00439279" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329178" "04214" "00439280" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329179" "04214" "00439281" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329180" "04214" "00439282" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MD" "retinal disease" ""
"0000329181" "04214" "00439283" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329182" "04214" "00439284" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329183" "04214" "00439285" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329184" "04214" "00439286" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329185" "04214" "00439287" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329186" "04214" "00439288" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329187" "04214" "00439289" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329188" "04214" "00439290" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329189" "04214" "00439291" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329190" "04214" "00439292" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329191" "04214" "00439293" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329192" "04214" "00439294" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329193" "04214" "00439295" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329194" "04214" "00439296" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329195" "04214" "00439297" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329196" "04214" "00439298" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329197" "04214" "00439299" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329198" "04214" "00439300" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329199" "04214" "00439301" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MD" "retinal disease" ""
"0000329200" "04214" "00439302" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329201" "04214" "00439303" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329202" "04214" "00439304" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329203" "04214" "00439305" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329204" "04214" "00439306" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329205" "04214" "00439307" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329206" "04214" "00439308" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329207" "04214" "00439309" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329208" "04214" "00439310" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329209" "04214" "00439311" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329210" "04214" "00439312" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329211" "04214" "00439313" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329212" "04214" "00439314" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329213" "04214" "00439315" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329214" "04214" "00439316" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CRD" "retinal disease" ""
"0000329215" "04214" "00439317" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329216" "04214" "00439318" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329217" "04214" "00439319" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329218" "04214" "00439320" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329219" "04214" "00439321" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329220" "04214" "00439322" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329221" "04214" "00439323" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329222" "04214" "00439324" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329223" "04214" "00439325" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329224" "04214" "00439326" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329225" "04214" "00439327" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329226" "04214" "00439328" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329227" "04214" "00439329" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329228" "04214" "00439330" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329229" "04214" "00439331" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329230" "04214" "00439332" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329231" "04214" "00439333" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "ARRP" "retinal disease" ""
"0000329232" "04214" "00439334" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329233" "04214" "00439335" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329234" "04214" "00439336" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329235" "04214" "00439337" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329236" "04214" "00439338" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MD" "retinal disease" ""
"0000329237" "04214" "00439339" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329238" "04214" "00439340" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329239" "04214" "00439341" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329240" "04214" "00439342" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MD" "retinal disease" ""
"0000329241" "04214" "00439343" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329242" "04214" "00439344" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "BEST" "retinal disease" ""
"0000329243" "04214" "00439345" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329244" "04214" "00439346" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329245" "04214" "00439347" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329246" "04214" "00439348" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329247" "04214" "00439349" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329248" "04214" "00439350" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329249" "04214" "00439351" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329250" "04214" "00439352" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329251" "04214" "00439353" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329252" "04214" "00439354" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329253" "04214" "00439355" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329254" "04214" "00439356" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329255" "04214" "00439357" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329256" "04214" "00439358" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CRD" "retinal disease" ""
"0000329257" "04214" "00439359" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MD" "retinal disease" ""
"0000329258" "04214" "00439360" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329259" "04214" "00439361" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CRD" "retinal disease" ""
"0000329260" "04214" "00439362" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329261" "04214" "00439363" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329262" "04214" "00439364" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329263" "04214" "00439365" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329264" "04214" "00439366" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329265" "04214" "00439367" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MD" "retinal disease" ""
"0000329266" "04214" "00439368" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329267" "04214" "00439369" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329268" "04214" "00439370" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329269" "04214" "00439371" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329270" "04214" "00439372" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329271" "04214" "00439373" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329272" "04214" "00439374" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329273" "04214" "00439375" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329274" "04214" "00439376" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CHM" "retinal disease" ""
"0000329275" "04214" "00439377" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329276" "04214" "00439378" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "RD" "retinal disease" ""
"0000329277" "04214" "00439379" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329278" "04214" "00439380" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329279" "04214" "00439381" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329280" "04214" "00439382" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MD" "retinal disease" ""
"0000329281" "04214" "00439383" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329282" "04214" "00439384" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329283" "04214" "00439385" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329284" "04214" "00439386" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329285" "04214" "00439387" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329286" "04214" "00439388" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329287" "04214" "00439389" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329288" "04214" "00439390" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MD" "retinal disease" ""
"0000329289" "04214" "00439391" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MD" "retinal disease" ""
"0000329290" "04214" "00439392" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329291" "04214" "00439393" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CD" "retinal disease" ""
"0000329292" "04214" "00439394" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329293" "04214" "00439395" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329294" "04214" "00439396" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329295" "04214" "00439397" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329296" "04214" "00439398" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CD" "retinal disease" ""
"0000329297" "04214" "00439399" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329298" "04214" "00439400" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329299" "04214" "00439401" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329300" "04214" "00439402" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329301" "04214" "00439403" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329302" "04214" "00439404" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329303" "04214" "00439405" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329304" "04214" "00439406" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329305" "04214" "00439407" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329306" "04214" "00439408" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329307" "04214" "00439409" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329308" "04214" "00439410" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329309" "04214" "00439411" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329310" "04214" "00439412" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329311" "04214" "00439413" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329312" "04214" "00439414" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MD" "retinal disease" ""
"0000329313" "04214" "00439415" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329314" "04214" "00439416" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329315" "04214" "00439417" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329316" "04214" "00439418" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329317" "04214" "00439419" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329318" "04214" "00439420" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329319" "04214" "00439421" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329320" "04214" "00439422" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329321" "04214" "00439423" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329322" "04214" "00439424" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "RD" "retinal disease" ""
"0000329323" "04214" "00439425" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329324" "04214" "00439426" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329325" "04214" "00439427" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329326" "04214" "00439428" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329327" "04214" "00439429" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329328" "04214" "00439430" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329329" "04214" "00439431" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329330" "04214" "00439432" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329331" "04214" "00439433" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329332" "04214" "00439434" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329333" "04214" "00439435" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329334" "04214" "00439436" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329335" "04214" "00439437" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329336" "04214" "00439438" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329337" "04214" "00439439" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329338" "04214" "00439440" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329339" "04214" "00439441" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329340" "04214" "00439442" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329341" "04214" "00439443" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329342" "04214" "00439444" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329343" "04214" "00439445" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329344" "04214" "00439446" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329345" "04214" "00439447" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CD" "retinal disease" ""
"0000329346" "04214" "00439448" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329347" "04214" "00439449" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329348" "04214" "00439450" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329349" "04214" "00439451" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329350" "04214" "00439452" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MD" "retinal disease" ""
"0000329351" "04214" "00439453" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CD" "retinal disease" ""
"0000329352" "04214" "00439454" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329353" "04214" "00439455" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329354" "04214" "00439456" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329355" "04214" "00439457" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329356" "04214" "00439458" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329357" "04214" "00439459" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329358" "04214" "00439460" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329359" "04214" "00439461" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329360" "04214" "00439462" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329361" "04214" "00439463" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MD" "retinal disease" ""
"0000329362" "04214" "00439464" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329363" "04214" "00439465" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329364" "04214" "00439466" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MD" "retinal disease" ""
"0000329365" "04214" "00439467" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329366" "04214" "00439468" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CRD" "retinal disease" ""
"0000329367" "04214" "00439469" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329368" "04214" "00439470" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329369" "04214" "00439471" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329370" "04214" "00439472" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329371" "04214" "00439473" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329372" "04214" "00439474" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329373" "04214" "00439475" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329374" "04214" "00439476" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329375" "04214" "00439477" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329376" "04214" "00439478" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329377" "04214" "00439479" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329378" "04214" "00439480" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329379" "04214" "00439481" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329380" "04214" "00439482" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329381" "04214" "00439483" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329382" "04214" "00439484" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329383" "04214" "00439485" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329384" "04214" "00439486" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329385" "04214" "00439487" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329386" "04214" "00439488" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329387" "04214" "00439489" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329388" "04214" "00439490" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329389" "04214" "00439491" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329390" "04214" "00439492" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329391" "04214" "00439493" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329392" "04214" "00439494" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329393" "04214" "00439495" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329394" "04214" "00439496" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329395" "04214" "00439497" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MD" "retinal disease" ""
"0000329396" "04214" "00439498" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "ARRP" "retinal disease" ""
"0000329397" "04214" "00439499" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329398" "04214" "00439500" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329399" "04214" "00439501" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329400" "04214" "00439502" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329401" "04214" "00439503" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329402" "04214" "00439504" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329403" "04214" "00439505" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329404" "04214" "00439506" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329405" "04214" "00439507" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329406" "04214" "00439508" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329407" "04214" "00439509" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CRD" "retinal disease" ""
"0000329408" "04214" "00439510" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329409" "04214" "00439511" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329410" "04214" "00439512" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329411" "04214" "00439513" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329412" "04214" "00439514" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329413" "04214" "00439515" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329414" "04214" "00439516" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329415" "04214" "00439517" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329416" "04214" "00439518" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329417" "04214" "00439519" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CD" "retinal disease" ""
"0000329418" "04214" "00439520" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329419" "04214" "00439521" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329420" "04214" "00439522" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329421" "04214" "00439523" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329422" "04214" "00439524" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329423" "04214" "00439525" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329424" "04214" "00439526" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329425" "04214" "00439527" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329426" "04214" "00439528" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329427" "04214" "00439529" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329428" "04214" "00439530" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329429" "04214" "00439531" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329430" "04214" "00439532" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329431" "04214" "00439533" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329432" "04214" "00439534" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329433" "04214" "00439535" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329434" "04214" "00439536" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MD" "retinal disease" ""
"0000329435" "04214" "00439537" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "ARRP" "retinal disease" ""
"0000329436" "04214" "00439538" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329437" "04214" "00439539" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329438" "04214" "00439540" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329439" "04214" "00439541" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329440" "04214" "00439542" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329441" "04214" "00439543" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329442" "04214" "00439544" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329443" "04214" "00439545" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329444" "04214" "00439546" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329445" "04214" "00439547" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329446" "04214" "00439548" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329447" "04214" "00439549" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329448" "04214" "00439550" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MD" "retinal disease" ""
"0000329449" "04214" "00439551" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329450" "04214" "00439552" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329451" "04214" "00439553" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329452" "04214" "00439554" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329453" "04214" "00439555" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329454" "04214" "00439556" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329455" "04214" "00439557" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329456" "04214" "00439558" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329457" "04214" "00439559" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329458" "04214" "00439560" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329459" "04214" "00439561" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329460" "04214" "00439562" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329461" "04214" "00439563" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329462" "04214" "00439564" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329463" "04214" "00439565" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329464" "04214" "00439566" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329465" "04214" "00439567" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329466" "04214" "00439568" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329467" "04214" "00439569" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329468" "04214" "00439570" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MD" "retinal disease" ""
"0000329469" "04214" "00439571" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329470" "04214" "00439572" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329471" "04214" "00439573" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329472" "04214" "00439574" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329473" "04214" "00439575" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329474" "04214" "00439576" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329475" "04214" "00439577" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329476" "04214" "00439578" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329477" "04214" "00439579" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329478" "04214" "00439580" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329479" "04214" "00439581" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329480" "04214" "00439582" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329481" "04214" "00439583" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329482" "04214" "00439584" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329483" "04214" "00439585" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329484" "04214" "00439586" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329485" "04214" "00439587" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329486" "04214" "00439588" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329487" "04214" "00439589" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329488" "04214" "00439590" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329489" "04214" "00439591" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329490" "04214" "00439592" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329491" "04214" "00439593" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329492" "04214" "00439594" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329493" "04214" "00439595" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329494" "04214" "00439596" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329495" "04214" "00439597" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329496" "04214" "00439598" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329497" "04214" "00439599" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329498" "04214" "00439600" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329499" "04214" "00439601" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329500" "04214" "00439602" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329501" "04214" "00439603" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329502" "04214" "00439604" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329503" "04214" "00439605" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329504" "04214" "00439606" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329505" "04214" "00439607" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329506" "04214" "00439608" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329507" "04214" "00439609" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329508" "04214" "00439610" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329509" "04214" "00439611" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329510" "04214" "00439612" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329511" "04214" "00439613" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329512" "04214" "00439614" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329513" "04214" "00439615" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329514" "04214" "00439616" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329515" "04214" "00439617" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329516" "04214" "00439618" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329517" "04214" "00439619" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329518" "04214" "00439620" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329519" "04214" "00439621" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329520" "04214" "00439622" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329521" "04214" "00439623" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329522" "04214" "00439624" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329523" "04214" "00439625" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329524" "04214" "00439626" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329525" "04214" "00439627" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329526" "04214" "00439628" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329527" "04214" "00439629" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329528" "04214" "00439630" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329529" "04214" "00439631" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329530" "04214" "00439632" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329531" "04214" "00439633" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329532" "04214" "00439634" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329533" "04214" "00439635" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329534" "04214" "00439636" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329535" "04214" "00439637" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329536" "04214" "00439638" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329537" "04214" "00439639" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329538" "04214" "00439640" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329539" "04214" "00439641" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329540" "04214" "00439642" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329541" "04214" "00439643" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329542" "04214" "00439644" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329543" "04214" "00439645" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329544" "04214" "00439646" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329545" "04214" "00439647" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329546" "04214" "00439648" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329547" "04214" "00439649" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy" "retinal disease" ""
"0000329548" "04214" "00439650" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329549" "04214" "00439651" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329550" "04214" "00439652" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329551" "04214" "00439653" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329552" "04214" "00439654" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329553" "04214" "00439655" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329554" "04214" "00439656" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329555" "04214" "00439657" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329556" "04214" "00439658" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329557" "04214" "00439659" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329558" "04214" "00439660" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy" "retinal disease" ""
"0000329559" "04214" "00439661" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329560" "04214" "00439662" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329561" "04214" "00439663" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329562" "04214" "00439664" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329563" "04214" "00439665" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329564" "04214" "00439666" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329565" "04214" "00439667" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329566" "04214" "00439668" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329567" "04214" "00439669" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329568" "04214" "00439670" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329569" "04214" "00439671" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329570" "04214" "00439672" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329571" "04214" "00439673" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329572" "04214" "00439674" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329573" "04214" "00439675" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329574" "04214" "00439676" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CRD" "retinal disease" ""
"0000329575" "04214" "00439677" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329576" "04214" "00439678" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329577" "04214" "00439679" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329578" "04214" "00439680" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329579" "04214" "00439681" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329580" "04214" "00439682" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329581" "04214" "00439683" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329582" "04214" "00439684" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329583" "04214" "00439685" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329584" "04214" "00439686" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329585" "04214" "00439687" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329586" "04214" "00439688" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329587" "04214" "00439689" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329588" "04214" "00439690" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329589" "04214" "00439691" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329590" "04214" "00439692" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329591" "04214" "00439693" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329592" "04214" "00439694" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329593" "04214" "00439695" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329594" "04214" "00439696" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329595" "04214" "00439697" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329596" "04214" "00439698" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329597" "04214" "00439699" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329598" "04214" "00439700" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329599" "04214" "00439701" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329600" "04214" "00439702" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329601" "04214" "00439703" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329602" "04214" "00439704" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329603" "04214" "00439705" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329604" "04214" "00439706" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329605" "04214" "00439707" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329606" "04214" "00439708" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329607" "04214" "00439709" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329608" "04214" "00439710" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329609" "04214" "00439711" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329610" "04214" "00439712" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329611" "04214" "00439713" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CRD" "retinal disease" ""
"0000329612" "04214" "00439714" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329613" "04214" "00439715" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329614" "04214" "00439716" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329615" "04214" "00439717" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329616" "04214" "00439718" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329617" "04214" "00439719" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329618" "04214" "00439720" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329619" "04214" "00439721" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329620" "04214" "00439722" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329621" "04214" "00439723" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CRD" "retinal disease" ""
"0000329622" "04214" "00439724" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329623" "04214" "00439725" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329624" "04214" "00439726" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329625" "04214" "00439727" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329626" "04214" "00439728" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329627" "04214" "00439729" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329628" "04214" "00439730" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329629" "04214" "00439731" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329630" "04214" "00439732" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329631" "04214" "00439733" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329632" "04214" "00439734" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329633" "04214" "00439735" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329634" "04214" "00439736" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329635" "04214" "00439737" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329636" "04214" "00439738" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329637" "04214" "00439739" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329638" "04214" "00439740" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329639" "04214" "00439741" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CRD" "retinal disease" ""
"0000329640" "04214" "00439742" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329641" "04214" "00439743" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329642" "04214" "00439744" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329643" "04214" "00439745" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329644" "04214" "00439746" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329645" "04214" "00439747" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329646" "04214" "00439748" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy" "retinal disease" ""
"0000329647" "04214" "00439749" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329648" "04214" "00439750" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329649" "04214" "00439751" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329650" "04214" "00439752" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329651" "04214" "00439753" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329652" "04214" "00439754" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329653" "04214" "00439755" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329654" "04214" "00439756" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329655" "04214" "00439757" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329656" "04214" "00439758" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329657" "04214" "00439759" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329658" "04214" "00439760" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329659" "04214" "00439761" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329660" "04214" "00439762" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CRD & FFM" "retinal disease" ""
"0000329661" "04214" "00439763" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329662" "04214" "00439764" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329663" "04214" "00439765" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329664" "04214" "00439766" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329665" "04214" "00439767" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329666" "04214" "00439768" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329667" "04214" "00439769" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CRD" "retinal disease" ""
"0000329668" "04214" "00439770" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329669" "04214" "00439771" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329670" "04214" "00439772" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329671" "04214" "00439773" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329672" "04214" "00439774" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329673" "04214" "00439775" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329674" "04214" "00439776" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329675" "04214" "00439777" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329676" "04214" "00439778" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329677" "04214" "00439779" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329678" "04214" "00439780" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329679" "04214" "00439781" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329680" "04214" "00439782" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329681" "04214" "00439783" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329682" "04214" "00439784" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329683" "04214" "00439785" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329684" "04214" "00439786" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329685" "04214" "00439787" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "FFM" "retinal disease" ""
"0000329686" "04214" "00439788" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329687" "04214" "00439789" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329688" "04214" "00439790" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329689" "04214" "00439791" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CRD" "retinal disease" ""
"0000329690" "04214" "00439792" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329691" "04214" "00439793" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy" "retinal disease" ""
"0000329692" "04214" "00439794" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329693" "04214" "00439795" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329694" "04214" "00439796" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329695" "04214" "00439797" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CRD" "retinal disease" ""
"0000329696" "04214" "00439798" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329697" "04214" "00439799" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329698" "04214" "00439800" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "AMD" "retinal disease" ""
"0000329699" "04214" "00439801" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329700" "04214" "00439802" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329701" "04214" "00439803" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329702" "04214" "00439804" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329703" "04214" "00439805" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329704" "04214" "00439806" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329705" "04214" "00439807" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329706" "04214" "00439808" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329707" "04214" "00439809" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329708" "04214" "00439810" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CRD" "retinal disease" ""
"0000329709" "04214" "00439811" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329710" "04214" "00439812" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329711" "04214" "00439813" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329712" "04214" "00439814" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329713" "04214" "00439815" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329714" "04214" "00439816" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329715" "04214" "00439817" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329716" "04214" "00439818" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329717" "04214" "00439819" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329718" "04214" "00439820" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329719" "04214" "00439821" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329720" "04214" "00439822" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329721" "04214" "00439823" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329722" "04214" "00439824" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329723" "04214" "00439825" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329724" "04214" "00439826" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329725" "04214" "00439827" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329726" "04214" "00439828" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329727" "04214" "00439829" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329728" "04214" "00439830" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329729" "04214" "00439831" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329730" "04214" "00439832" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329731" "04214" "00439833" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329732" "04214" "00439834" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329733" "04214" "00439835" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329734" "04214" "00439836" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329735" "04214" "00439837" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329736" "04214" "00439838" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329737" "04214" "00439839" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329738" "04214" "00439840" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329739" "04214" "00439841" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329740" "04214" "00439842" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329741" "04214" "00439843" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329742" "04214" "00439844" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329743" "04214" "00439845" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329744" "04214" "00439846" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329745" "04214" "00439847" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy" "retinal disease" ""
"0000329746" "04214" "00439848" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329747" "04214" "00439849" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329748" "04214" "00439850" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329749" "04214" "00439851" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329750" "04214" "00439852" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "RP" "retinal disease" ""
"0000329751" "04214" "00439853" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329752" "04214" "00439854" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329753" "04214" "00439855" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329754" "04214" "00439856" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329755" "04214" "00439857" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329756" "04214" "00439858" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329757" "04214" "00439859" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329758" "04214" "00439860" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329759" "04214" "00439861" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329760" "04214" "00439862" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy" "retinal disease" ""
"0000329761" "04214" "00439863" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329762" "04214" "00439864" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329763" "04214" "00439865" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329764" "04214" "00439866" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329765" "04214" "00439867" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CRD" "retinal disease" ""
"0000329766" "04214" "00439868" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329767" "04214" "00439869" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329768" "04214" "00439870" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329769" "04214" "00439871" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329770" "04214" "00439872" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329771" "04214" "00439873" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329772" "04214" "00439874" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329773" "04214" "00439875" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329774" "04214" "00439876" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329775" "04214" "00439877" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329776" "04214" "00439878" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329777" "04214" "00439879" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329778" "04214" "00439880" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329779" "04214" "00439881" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329780" "04214" "00439882" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329781" "04214" "00439883" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329782" "04214" "00439884" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329783" "04214" "00439885" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329784" "04214" "00439886" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329785" "04214" "00439887" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329786" "04214" "00439888" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329787" "04214" "00439889" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329788" "04214" "00439890" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329789" "04214" "00439891" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329790" "04214" "00439892" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329791" "04214" "00439893" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329792" "04214" "00439894" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329793" "04214" "00439895" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329794" "04214" "00439896" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329795" "04214" "00439897" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329796" "04214" "00439898" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329797" "04214" "00439899" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329798" "04214" "00439900" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329799" "04214" "00439901" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329800" "04214" "00439902" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329801" "04214" "00439903" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329802" "04214" "00439904" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329803" "04214" "00439905" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329804" "04214" "00439906" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "RP" "retinal disease" ""
"0000329805" "04214" "00439907" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329806" "04214" "00439908" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "RP" "retinal disease" ""
"0000329807" "04214" "00439909" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329808" "04214" "00439910" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329809" "04214" "00439911" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CRD" "retinal disease" ""
"0000329810" "04214" "00439912" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329811" "04214" "00439913" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329812" "04214" "00439914" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329813" "04214" "00439915" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329814" "04214" "00439916" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329815" "04214" "00439917" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329816" "04214" "00439918" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329817" "04214" "00439919" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329818" "04214" "00439920" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329819" "04214" "00439921" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329820" "04214" "00439922" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329821" "04214" "00439923" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329822" "04214" "00439924" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329823" "04214" "00439925" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329824" "04214" "00439926" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329825" "04214" "00439927" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CRD" "retinal disease" ""
"0000329826" "04214" "00439928" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329827" "04214" "00439929" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329828" "04214" "00439930" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329829" "04214" "00439931" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329830" "04214" "00439932" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329831" "04214" "00439933" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329832" "04214" "00439934" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329833" "04214" "00439935" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy" "retinal disease" ""
"0000329834" "04214" "00439936" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329835" "04214" "00439937" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329836" "04214" "00439938" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329837" "04214" "00439939" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329838" "04214" "00439940" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329839" "04214" "00439941" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329840" "04214" "00439942" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329841" "04214" "00439943" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329842" "04214" "00439944" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329843" "04214" "00439945" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329844" "04214" "00439946" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329845" "04214" "00439947" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329846" "04214" "00439948" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329847" "04214" "00439949" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329848" "04214" "00439950" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "FFM" "retinal disease" ""
"0000329849" "04214" "00439951" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329850" "04214" "00439952" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329851" "04214" "00439953" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329852" "04214" "00439954" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329853" "04214" "00439955" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329854" "04214" "00439956" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329855" "04214" "00439957" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329856" "04214" "00439958" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329857" "04214" "00439959" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329858" "04214" "00439960" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329859" "04214" "00439961" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329860" "04214" "00439962" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329861" "04214" "00439963" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329862" "04214" "00439964" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329863" "04214" "00439965" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329864" "04214" "00439966" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329865" "04214" "00439967" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329866" "04214" "00439968" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "FFM" "retinal disease" ""
"0000329867" "04214" "00439969" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329868" "04214" "00439970" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329869" "04214" "00439971" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329870" "04214" "00439972" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329871" "04214" "00439973" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329872" "04214" "00439974" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329873" "04214" "00439975" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329874" "04214" "00439976" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329875" "04214" "00439977" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329876" "04214" "00439978" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329877" "04214" "00439979" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329878" "04214" "00439980" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329879" "04214" "00439981" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329880" "04214" "00439982" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329881" "04214" "00439983" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329882" "04214" "00439984" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329883" "04214" "00439985" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329884" "04214" "00439986" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329885" "04214" "00439987" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329886" "04214" "00439988" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329887" "04214" "00439989" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329888" "04214" "00439990" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329889" "04214" "00439991" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329890" "04214" "00439992" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329891" "04214" "00439993" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329892" "04214" "00439994" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "AMD" "retinal disease" ""
"0000329893" "04214" "00439995" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329894" "04214" "00439996" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329895" "04214" "00439997" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329896" "04214" "00439998" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329897" "04214" "00439999" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329898" "04214" "00440000" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329899" "04214" "00440001" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329900" "04214" "00440002" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329901" "04214" "00440003" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329902" "04214" "00440004" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329903" "04214" "00440005" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329904" "04214" "00440006" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329905" "04214" "00440007" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329906" "04214" "00440008" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329907" "04214" "00440009" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329908" "04214" "00440010" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329909" "04214" "00440011" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329910" "04214" "00440012" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329911" "04214" "00440013" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329912" "04214" "00440014" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329913" "04214" "00440015" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329914" "04214" "00440016" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329915" "04214" "00440017" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329916" "04214" "00440018" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329917" "04214" "00440019" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329918" "04214" "00440020" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329919" "04214" "00440021" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329920" "04214" "00440022" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329921" "04214" "00440023" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329922" "04214" "00440024" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329923" "04214" "00440025" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329924" "04214" "00440026" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329925" "04214" "00440027" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329926" "04214" "00440028" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329927" "04214" "00440029" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329928" "04214" "00440030" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329929" "04214" "00440031" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329930" "04214" "00440032" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329931" "04214" "00440033" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329932" "04214" "00440034" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329933" "04214" "00440035" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329934" "04214" "00440036" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329935" "04214" "00440037" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329936" "04214" "00440038" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329937" "04214" "00440039" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CRD" "retinal disease" ""
"0000329938" "04214" "00440040" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329939" "04214" "00440041" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329940" "04214" "00440042" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329941" "04214" "00440043" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329942" "04214" "00440044" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329943" "04214" "00440045" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy" "retinal disease" ""
"0000329944" "04214" "00440046" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329945" "04214" "00440047" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329946" "04214" "00440048" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329947" "04214" "00440049" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329948" "04214" "00440050" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329949" "04214" "00440051" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329950" "04214" "00440052" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329951" "04214" "00440053" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329952" "04214" "00440054" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329953" "04214" "00440055" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329954" "04214" "00440056" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329955" "04214" "00440057" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329956" "04214" "00440058" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329957" "04214" "00440059" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329958" "04214" "00440060" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329959" "04214" "00440061" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CRD" "retinal disease" ""
"0000329960" "04214" "00440062" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329961" "04214" "00440063" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329962" "04214" "00440064" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329963" "04214" "00440065" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329964" "04214" "00440066" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329965" "04214" "00440067" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329966" "04214" "00440068" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329967" "04214" "00440069" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329968" "04214" "00440070" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329969" "04214" "00440071" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329970" "04214" "00440072" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329971" "04214" "00440073" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329972" "04214" "00440074" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329973" "04214" "00440075" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329974" "04214" "00440076" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329975" "04214" "00440077" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329976" "04214" "00440078" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329977" "04214" "00440079" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329978" "04214" "00440080" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329979" "04214" "00440081" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000329980" "04214" "00440082" "01251" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000331308" "00112" "00441925" "04594" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa" ""
"0000331309" "00058" "00441926" "04594" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Cone rod dystrophy" ""
"0000331310" "04215" "00441927" "04594" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt" ""
"0000331311" "04215" "00441928" "04594" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt" ""
"0000332785" "00058" "00441795" "04594" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa" ""
"0000333503" "04214" "00444250" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000334616" "00420" "00411327" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000334683" "04214" "00445448" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334684" "04214" "00445449" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334685" "04214" "00445450" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334686" "04214" "00445451" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334687" "04214" "00445452" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334688" "04214" "00445453" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334689" "04214" "00445454" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334690" "04214" "00445455" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334691" "04214" "00445456" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334692" "04214" "00445457" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334693" "04214" "00445458" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334694" "04214" "00445459" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334695" "04214" "00445460" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334696" "04214" "00445461" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334697" "04214" "00445462" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334698" "04214" "00445463" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334699" "04214" "00445464" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334700" "04214" "00445465" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334701" "04214" "00445466" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334702" "04214" "00445467" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334703" "04214" "00445468" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334704" "04214" "00445469" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334705" "04214" "00445470" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334706" "04214" "00445471" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334707" "04214" "00445472" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334708" "04214" "00445473" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334709" "04214" "00445474" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334710" "04214" "00445475" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334711" "04214" "00445476" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334712" "04214" "00445477" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334713" "04214" "00445478" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334714" "04214" "00445479" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334715" "04214" "00445480" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334716" "04214" "00445481" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334717" "04214" "00445482" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334718" "04214" "00445483" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334719" "04214" "00445484" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334720" "04214" "00445485" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334721" "04214" "00445486" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334722" "04214" "00445487" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334723" "04214" "00445488" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334724" "04214" "00445489" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334725" "04214" "00445490" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334726" "04214" "00445491" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334727" "04214" "00445492" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334728" "04214" "00445493" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334729" "04214" "00445494" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334730" "04214" "00445495" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334731" "04214" "00445496" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334732" "04214" "00445497" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334733" "04214" "00445498" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334734" "04214" "00445499" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334735" "04214" "00445500" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334736" "04214" "00445501" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334737" "04214" "00445502" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334738" "04214" "00445503" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334739" "04214" "00445504" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334740" "04214" "00445505" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334741" "04214" "00445506" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334742" "04214" "00445507" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334743" "04214" "00445508" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334744" "04214" "00445509" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334745" "04214" "00445510" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334746" "04214" "00445511" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334747" "04214" "00445512" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334748" "04214" "00445513" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334749" "04214" "00445514" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334750" "04214" "00445515" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334751" "04214" "00445516" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334752" "04214" "00445517" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334753" "04214" "00445518" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334754" "04214" "00445519" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334755" "04214" "00445520" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334756" "04214" "00445521" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334757" "04214" "00445522" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334758" "04214" "00445523" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334759" "04214" "00445524" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334760" "04214" "00445525" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334761" "04214" "00445526" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334762" "04214" "00445527" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334763" "04214" "00445528" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334764" "04214" "00445529" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334765" "04214" "00445530" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334766" "04214" "00445531" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334767" "04214" "00445532" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334768" "04214" "00445533" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334769" "04214" "00445534" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334770" "04214" "00445535" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334771" "04214" "00445536" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334772" "04214" "00445537" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334773" "04214" "00445538" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334774" "04214" "00445539" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334775" "04214" "00445540" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334776" "04214" "00445541" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334777" "04214" "00445542" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334778" "04214" "00445543" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334779" "04214" "00445544" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334780" "04214" "00445545" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334781" "04214" "00445546" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334782" "04214" "00445547" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334783" "04214" "00445548" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334784" "04214" "00445549" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334785" "04214" "00445550" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334786" "04214" "00445551" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334787" "04214" "00445552" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334788" "04214" "00445553" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334789" "04214" "00445554" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334790" "04214" "00445555" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334791" "04214" "00445556" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334792" "04214" "00445557" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334793" "04214" "00445558" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334794" "04214" "00445559" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334795" "04214" "00445560" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334796" "04214" "00445561" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334797" "04214" "00445562" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334798" "04214" "00445563" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334799" "04214" "00445564" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334800" "04214" "00445565" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334801" "04214" "00445566" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334802" "04214" "00445567" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334803" "04214" "00445568" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334804" "04214" "00445569" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334805" "04214" "00445570" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334806" "04214" "00445571" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334807" "04214" "00445572" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334808" "04214" "00445573" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334809" "04214" "00445574" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334810" "04214" "00445575" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334811" "04214" "00445576" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334812" "04214" "00445577" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334813" "04214" "00445578" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334814" "04214" "00445579" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334815" "04214" "00445580" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334816" "04214" "00445581" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334817" "04214" "00445582" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334818" "04214" "00445583" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334819" "04214" "00445584" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334820" "04214" "00445585" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334821" "04214" "00445586" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334822" "04214" "00445587" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334823" "04214" "00445588" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334824" "04214" "00445589" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334825" "04214" "00445590" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334826" "04214" "00445591" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334827" "04214" "00445592" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334828" "04214" "00445593" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334829" "04214" "00445594" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334830" "04214" "00445595" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334831" "04214" "00445596" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334832" "04214" "00445597" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334833" "04214" "00445598" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334834" "04214" "00445599" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334835" "04214" "00445600" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334836" "04214" "00445601" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334837" "04214" "00445602" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334838" "04214" "00445603" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334839" "04214" "00445604" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334840" "04214" "00445605" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334841" "04214" "00445606" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334842" "04214" "00445607" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334843" "04214" "00445608" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334844" "04214" "00445609" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334845" "04214" "00445610" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334846" "04214" "00445611" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334847" "04214" "00445612" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334848" "04214" "00445613" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334849" "04214" "00445614" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334850" "04214" "00445615" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334851" "04214" "00445616" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334852" "04214" "00445617" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334853" "04214" "00445618" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334854" "04214" "00445619" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334855" "04214" "00445620" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334856" "04214" "00445621" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334857" "04214" "00445622" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334858" "04214" "00445623" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334859" "04214" "00445624" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334860" "04214" "00445625" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334861" "04214" "00445626" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334862" "04214" "00445627" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334863" "04214" "00445628" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334864" "04214" "00445629" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334865" "04214" "00445630" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334866" "04214" "00445631" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334867" "04214" "00445632" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334868" "04214" "00445633" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334869" "04214" "00445634" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334870" "04214" "00445635" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334871" "04214" "00445636" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334872" "04214" "00445637" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334873" "04214" "00445638" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334874" "04214" "00445639" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334875" "04214" "00445640" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334876" "04214" "00445641" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334877" "04214" "00445642" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334878" "04214" "00445643" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334879" "04214" "00445644" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334880" "04214" "00445645" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334881" "04214" "00445646" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334882" "04214" "00445647" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334883" "04214" "00445648" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334884" "04214" "00445649" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334885" "04214" "00445650" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334886" "04214" "00445651" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334887" "04214" "00445652" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334888" "04214" "00445653" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334889" "04214" "00445654" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334890" "04214" "00445655" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334891" "04214" "00445656" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334892" "04214" "00445657" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334893" "04214" "00445658" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334894" "04214" "00445659" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334895" "04214" "00445660" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334896" "04214" "00445661" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334897" "04214" "00445662" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334898" "04214" "00445663" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334899" "04214" "00445664" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334900" "04214" "00445665" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334901" "04214" "00445666" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334902" "04214" "00445667" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334903" "04214" "00445668" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334904" "04214" "00445669" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334905" "04214" "00445670" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334906" "04214" "00445671" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334907" "04214" "00445672" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334908" "04214" "00445673" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334909" "04214" "00445674" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334910" "04214" "00445675" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334911" "04214" "00445676" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334912" "04214" "00445677" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334913" "04214" "00445678" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334914" "04214" "00445679" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334915" "04214" "00445680" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334916" "04214" "00445681" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334917" "04214" "00445682" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334918" "04214" "00445683" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334919" "04214" "00445684" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334920" "04214" "00445685" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334921" "04214" "00445686" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334922" "04214" "00445687" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334923" "04214" "00445688" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334924" "04214" "00445689" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334925" "04214" "00445690" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334926" "04214" "00445691" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334927" "04214" "00445692" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334928" "04214" "00445693" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334929" "04214" "00445694" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334930" "04214" "00445695" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334931" "04214" "00445696" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334932" "04214" "00445697" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334933" "04214" "00445698" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334934" "04214" "00445699" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334935" "04214" "00445700" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334936" "04214" "00445701" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334937" "04214" "00445702" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334938" "04214" "00445703" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334939" "04214" "00445704" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334940" "04214" "00445705" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334941" "04214" "00445706" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334942" "04214" "00445707" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334943" "04214" "00445708" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334944" "04214" "00445709" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334945" "04214" "00445710" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334946" "04214" "00445711" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334947" "04214" "00445712" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334948" "04214" "00445713" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334949" "04214" "00445714" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334950" "04214" "00445715" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334951" "04214" "00445716" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334952" "04214" "00445717" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334953" "04214" "00445718" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334954" "04214" "00445719" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334955" "04214" "00445720" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334956" "04214" "00445721" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334957" "04214" "00445722" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334958" "04214" "00445723" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334959" "04214" "00445724" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334960" "04214" "00445725" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334961" "04214" "00445726" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334962" "04214" "00445727" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334963" "04214" "00445728" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334964" "04214" "00445729" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334965" "04214" "00445730" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334966" "04214" "00445731" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334967" "04214" "00445732" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334968" "04214" "00445733" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334969" "04214" "00445734" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334970" "04214" "00445735" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334971" "04214" "00445736" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334972" "04214" "00445737" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334973" "04214" "00445738" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334974" "04214" "00445739" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334975" "04214" "00445740" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334976" "04214" "00445741" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334977" "04214" "00445742" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334978" "04214" "00445743" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334979" "04214" "00445744" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334980" "04214" "00445745" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334981" "04214" "00445746" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334982" "04214" "00445747" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334983" "04214" "00445748" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334984" "04214" "00445749" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334985" "04214" "00445750" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334986" "04214" "00445751" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334987" "04214" "00445752" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334988" "04214" "00445753" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334989" "04214" "00445754" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334990" "04214" "00445755" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334991" "04214" "00445756" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334992" "04214" "00445757" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334993" "04214" "00445758" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334994" "04214" "00445759" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334995" "04214" "00445760" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334996" "04214" "00445761" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334997" "04214" "00445762" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334998" "04214" "00445763" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000334999" "04214" "00445764" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335000" "04214" "00445765" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335001" "04214" "00445766" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335002" "04214" "00445767" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335003" "04214" "00445768" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335004" "04214" "00445769" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335005" "04214" "00445770" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335006" "04214" "00445771" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335007" "04214" "00445772" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335008" "04214" "00445773" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335009" "04214" "00445774" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335010" "04214" "00445775" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335011" "04214" "00445776" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335012" "04214" "00445777" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335013" "04214" "00445778" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335014" "04214" "00445779" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335015" "04214" "00445780" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335016" "04214" "00445781" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335017" "04214" "00445782" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335018" "04214" "00445783" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335019" "04214" "00445784" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335020" "04214" "00445785" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335021" "04214" "00445786" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335022" "04214" "00445787" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335023" "04214" "00445788" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335024" "04214" "00445789" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335025" "04214" "00445790" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335026" "04214" "00445791" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335027" "04214" "00445792" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335028" "04214" "00445793" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335029" "04214" "00445794" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335030" "04214" "00445795" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335031" "04214" "00445796" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335032" "04214" "00445797" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335033" "04214" "00445798" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335034" "04214" "00445799" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335035" "04214" "00445800" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335036" "04214" "00445801" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335037" "04214" "00445802" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335038" "04214" "00445803" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335039" "04214" "00445804" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335040" "04214" "00445805" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335041" "04214" "00445806" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335042" "04214" "00445807" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335043" "04214" "00445808" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335044" "04214" "00445809" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335045" "04214" "00445810" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335046" "04214" "00445811" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335047" "04214" "00445812" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335048" "04214" "00445813" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335049" "04214" "00445814" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335050" "04214" "00445815" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335051" "04214" "00445816" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335052" "04214" "00445817" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335053" "04214" "00445818" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335054" "04214" "00445819" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335055" "04214" "00445820" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335056" "04214" "00445821" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335057" "04214" "00445822" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335058" "04214" "00445823" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335059" "04214" "00445824" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335060" "04214" "00445825" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335061" "04214" "00445826" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335062" "04214" "00445827" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335063" "04214" "00445828" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335064" "04214" "00445829" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335065" "04214" "00445830" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335066" "04214" "00445831" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335067" "04214" "00445832" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335068" "04214" "00445833" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335069" "04214" "00445834" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335070" "04214" "00445835" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335071" "04214" "00445836" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335072" "04214" "00445837" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335073" "04214" "00445838" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335074" "04214" "00445839" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335075" "04214" "00445840" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335076" "04214" "00445841" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335077" "04214" "00445842" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335078" "04214" "00445843" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335079" "04214" "00445844" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335080" "04214" "00445845" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335081" "04214" "00445846" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335082" "04214" "00445847" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335083" "04214" "00445848" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335084" "04214" "00445849" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335085" "04214" "00445850" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335086" "04214" "00445851" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335087" "04214" "00445852" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335088" "04214" "00445853" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335089" "04214" "00445854" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335090" "04214" "00445855" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335091" "04214" "00445856" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335092" "04214" "00445857" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335093" "04214" "00445858" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335094" "04214" "00445859" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335095" "04214" "00445860" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335096" "04214" "00445861" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335097" "04214" "00445862" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335098" "04214" "00445863" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335099" "04214" "00445864" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335100" "04214" "00445865" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335101" "04214" "00445866" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335102" "04214" "00445867" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335103" "04214" "00445868" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335104" "04214" "00445869" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335105" "04214" "00445870" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335106" "04214" "00445871" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335107" "04214" "00445872" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335108" "04214" "00445873" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335109" "04214" "00445874" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335110" "04214" "00445875" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335111" "04214" "00445876" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335112" "04214" "00445877" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335113" "04214" "00445878" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335114" "04214" "00445879" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335115" "04214" "00445880" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335116" "04214" "00445881" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335117" "04214" "00445882" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335118" "04214" "00445883" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335119" "04214" "00445884" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335120" "04214" "00445885" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335121" "04214" "00445886" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335122" "04214" "00445887" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335123" "04214" "00445888" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335124" "04214" "00445889" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335125" "04214" "00445890" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335126" "04214" "00445891" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335127" "04214" "00445892" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335128" "04214" "00445893" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335129" "04214" "00445894" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335130" "04214" "00445895" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335131" "04214" "00445896" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335132" "04214" "00445897" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335133" "04214" "00445898" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335134" "04214" "00445899" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335135" "04214" "00445900" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335136" "04214" "00445901" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335137" "04214" "00445902" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335138" "04214" "00445903" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335139" "04214" "00445904" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335140" "04214" "00445905" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335141" "04214" "00445906" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335142" "04214" "00445907" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335143" "04214" "00445908" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335144" "04214" "00445909" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335145" "04214" "00445910" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335146" "04214" "00445911" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335147" "04214" "00445912" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335148" "04214" "00445913" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335149" "04214" "00445914" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335150" "04214" "00445915" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335151" "04214" "00445916" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335152" "04214" "00445917" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335153" "04214" "00445918" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335154" "04214" "00445919" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335155" "04214" "00445920" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335156" "04214" "00445921" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335157" "04214" "00445922" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335158" "04214" "00445923" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335159" "04214" "00445924" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335160" "04214" "00445925" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335161" "04214" "00445926" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335162" "04214" "00445927" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335163" "04214" "00445928" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335164" "04214" "00445929" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335165" "04214" "00445930" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335166" "04214" "00445931" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335167" "04214" "00445932" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335168" "04214" "00445933" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335169" "04214" "00445934" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335170" "04214" "00445935" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335171" "04214" "00445936" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335172" "04214" "00445937" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335173" "04214" "00445938" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335174" "04214" "00445939" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335175" "04214" "00445940" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335176" "04214" "00445941" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335177" "04214" "00445942" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335178" "04214" "00445943" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335179" "04214" "00445944" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335180" "04214" "00445945" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335181" "04214" "00445946" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335182" "04214" "00445947" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335183" "04214" "00445948" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335184" "04214" "00445949" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335185" "04214" "00445950" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335186" "04214" "00445951" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335187" "04214" "00445952" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335188" "04214" "00445953" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335189" "04214" "00445954" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335190" "04214" "00445955" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335191" "04214" "00445956" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335192" "04214" "00445957" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335193" "04214" "00445958" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335194" "04214" "00445959" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335195" "04214" "00445960" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335196" "04214" "00445961" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335197" "04214" "00445962" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335198" "04214" "00445963" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335199" "04214" "00445964" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335200" "04214" "00445965" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335201" "04214" "00445966" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335202" "04214" "00445967" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335203" "04214" "00445968" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335204" "04214" "00445969" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335205" "04214" "00445970" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335206" "04214" "00445971" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335207" "04214" "00445972" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335208" "04214" "00445973" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335209" "04214" "00445974" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335210" "04214" "00445975" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335211" "04214" "00445976" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335212" "04214" "00445977" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335213" "04214" "00445978" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335214" "04214" "00445979" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335215" "04214" "00445980" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335216" "04214" "00445981" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335217" "04214" "00445982" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335218" "04214" "00445983" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335219" "04214" "00445984" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335220" "04214" "00445985" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335221" "04214" "00445986" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335222" "04214" "00445987" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335223" "04214" "00445988" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335224" "04214" "00445989" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335225" "04214" "00445990" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335226" "04214" "00445991" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335227" "04214" "00445992" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335228" "04214" "00445993" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335229" "04214" "00445994" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335230" "04214" "00445995" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335231" "04214" "00445996" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335232" "04214" "00445997" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335233" "04214" "00445998" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335234" "04214" "00445999" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335235" "04214" "00446000" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335236" "04214" "00446001" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335237" "04214" "00446002" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335238" "04214" "00446003" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335239" "04214" "00446004" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335240" "04214" "00446005" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335241" "04214" "00446006" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335242" "04214" "00446007" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335243" "04214" "00446008" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335244" "04214" "00446009" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335245" "04214" "00446010" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335246" "04214" "00446011" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335247" "04214" "00446012" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335248" "04214" "00446013" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335249" "04214" "00446014" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335250" "04214" "00446015" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335251" "04214" "00446016" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335252" "04214" "00446017" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335253" "04214" "00446018" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335254" "04214" "00446019" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335255" "04214" "00446020" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335256" "04214" "00446021" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335257" "04214" "00446022" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335258" "04214" "00446023" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335259" "04214" "00446024" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335260" "04214" "00446025" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335261" "04214" "00446026" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335262" "04214" "00446027" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335263" "04214" "00446028" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335264" "04214" "00446029" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335265" "04214" "00446030" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335266" "04214" "00446031" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335267" "04214" "00446032" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335268" "04214" "00446033" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335269" "04214" "00446034" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335270" "04214" "00446035" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335271" "04214" "00446036" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335272" "04214" "00446037" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335273" "04214" "00446038" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335274" "04214" "00446039" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335275" "04214" "00446040" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335276" "04214" "00446041" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335277" "04214" "00446042" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335278" "04214" "00446043" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335279" "04214" "00446044" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335280" "04214" "00446045" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335281" "04214" "00446046" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335282" "04214" "00446047" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335283" "04214" "00446048" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335284" "04214" "00446049" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335285" "04214" "00446050" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335286" "04214" "00446051" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335287" "04214" "00446052" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335288" "04214" "00446053" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335289" "04214" "00446054" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335290" "04214" "00446055" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335291" "04214" "00446056" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335292" "04214" "00446057" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335293" "04214" "00446058" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335294" "04214" "00446059" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335295" "04214" "00446060" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335296" "04214" "00446061" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335297" "04214" "00446062" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335298" "04214" "00446063" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335299" "04214" "00446064" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335300" "04214" "00446065" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335301" "04214" "00446066" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335302" "04214" "00446067" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335303" "04214" "00446068" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335304" "04214" "00446069" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335305" "04214" "00446070" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335306" "04214" "00446071" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335307" "04214" "00446072" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335308" "04214" "00446073" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335309" "04214" "00446074" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335310" "04214" "00446075" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335311" "04214" "00446076" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335312" "04214" "00446077" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335313" "04214" "00446078" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335314" "04214" "00446079" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335315" "04214" "00446080" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335316" "04214" "00446081" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335317" "04214" "00446082" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335318" "04214" "00446083" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335319" "04214" "00446084" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335320" "04214" "00446085" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335321" "04214" "00446086" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335322" "04214" "00446087" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335323" "04214" "00446088" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335324" "04214" "00446089" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335325" "04214" "00446090" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335326" "04214" "00446091" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335327" "04214" "00446092" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335328" "04214" "00446093" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335329" "04214" "00446094" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335330" "04214" "00446095" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335331" "04214" "00446096" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335332" "04214" "00446097" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335333" "04214" "00446098" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335334" "04214" "00446099" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335335" "04214" "00446100" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335336" "04214" "00446101" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335337" "04214" "00446102" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335338" "04214" "00446103" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335339" "04214" "00446104" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335340" "04214" "00446105" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335341" "04214" "00446106" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335342" "04214" "00446107" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335343" "04214" "00446108" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335344" "04214" "00446109" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335345" "04214" "00446110" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335346" "04214" "00446111" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335347" "04214" "00446112" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335348" "04214" "00446113" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335349" "04214" "00446114" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335350" "04214" "00446115" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335351" "04214" "00446116" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335352" "04214" "00446117" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335353" "04214" "00446118" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335354" "04214" "00446119" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335355" "04214" "00446120" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335356" "04214" "00446121" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335357" "04214" "00446122" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335358" "04214" "00446123" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335359" "04214" "00446124" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335360" "04214" "00446125" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335361" "04214" "00446126" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335362" "04214" "00446127" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335363" "04214" "00446128" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335364" "04214" "00446129" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335365" "04214" "00446130" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335366" "04214" "00446131" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335367" "04214" "00446132" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335368" "04214" "00446133" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335369" "04214" "00446134" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335370" "04214" "00446135" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335371" "04214" "00446136" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335372" "04214" "00446137" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335373" "04214" "00446138" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335374" "04214" "00446139" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335375" "04214" "00446140" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335376" "04214" "00446141" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335377" "04214" "00446142" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335378" "04214" "00446143" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335379" "04214" "00446144" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335380" "04214" "00446145" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335381" "04214" "00446146" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335382" "04214" "00446147" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335383" "04214" "00446148" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335384" "04214" "00446149" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335385" "04214" "00446150" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335386" "04214" "00446151" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335387" "04214" "00446152" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335388" "04214" "00446153" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335389" "04214" "00446154" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335390" "04214" "00446155" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335391" "04214" "00446156" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335392" "04214" "00446157" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335393" "04214" "00446158" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335394" "04214" "00446159" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335395" "04214" "00446160" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335396" "04214" "00446161" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335397" "04214" "00446162" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335398" "04214" "00446163" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335399" "04214" "00446164" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335400" "04214" "00446165" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335401" "04214" "00446166" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335402" "04214" "00446167" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335403" "04214" "00446168" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335404" "04214" "00446169" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335405" "04214" "00446170" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335406" "04214" "00446171" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335407" "04214" "00446172" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335408" "04214" "00446173" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335409" "04214" "00446174" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335410" "04214" "00446175" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335411" "04214" "00446176" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335412" "04214" "00446177" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335413" "04214" "00446178" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335414" "04214" "00446179" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335415" "04214" "00446180" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335416" "04214" "00446181" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335417" "04214" "00446182" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335418" "04214" "00446183" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335419" "04214" "00446184" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335420" "04214" "00446185" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335421" "04214" "00446186" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335422" "04214" "00446187" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335423" "04214" "00446188" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335424" "04214" "00446189" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335425" "04214" "00446190" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335426" "04214" "00446191" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335427" "04214" "00446192" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335428" "04214" "00446193" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335429" "04214" "00446194" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335430" "04214" "00446195" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335431" "04214" "00446196" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335432" "04214" "00446197" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335433" "04214" "00446198" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335434" "04214" "00446199" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335435" "04214" "00446200" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335436" "04214" "00446201" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335437" "04214" "00446202" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335438" "04214" "00446203" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335439" "04214" "00446204" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335440" "04214" "00446205" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335441" "04214" "00446206" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335442" "04214" "00446207" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335443" "04214" "00446208" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335444" "04214" "00446209" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335445" "04214" "00446210" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335446" "04214" "00446211" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335447" "04214" "00446212" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335448" "04214" "00446213" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335449" "04214" "00446214" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335450" "04214" "00446215" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335451" "04214" "00446216" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335452" "04214" "00446217" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335453" "04214" "00446218" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335454" "04214" "00446219" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335455" "04214" "00446220" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335456" "04214" "00446221" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335457" "04214" "00446222" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335458" "04214" "00446223" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335459" "04214" "00446224" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335460" "04214" "00446225" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335461" "04214" "00446226" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335462" "04214" "00446227" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335463" "04214" "00446228" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335464" "04214" "00446229" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335465" "04214" "00446230" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335466" "04214" "00446231" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335467" "04214" "00446232" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335468" "04214" "00446233" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335469" "04214" "00446234" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335470" "04214" "00446235" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335471" "04214" "00446236" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335472" "04214" "00446237" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335473" "04214" "00446238" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335474" "04214" "00446239" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335475" "04214" "00446240" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335476" "04214" "00446241" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335477" "04214" "00446242" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335478" "04214" "00446243" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335479" "04214" "00446244" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335480" "04214" "00446245" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335481" "04214" "00446246" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335482" "04214" "00446247" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335483" "04214" "00446248" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335484" "04214" "00446249" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335485" "04214" "00446250" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335486" "04214" "00446251" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335487" "04214" "00446252" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335488" "04214" "00446253" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335489" "04214" "00446254" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335490" "04214" "00446255" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335491" "04214" "00446256" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335492" "04214" "00446257" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335493" "04214" "00446258" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335494" "04214" "00446259" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335495" "04214" "00446260" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335496" "04214" "00446261" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335497" "04214" "00446262" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335498" "04214" "00446263" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335499" "04214" "00446264" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335500" "04214" "00446265" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335501" "04214" "00446266" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335502" "04214" "00446267" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335503" "04214" "00446268" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335504" "04214" "00446269" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335505" "04214" "00446270" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335506" "04214" "00446271" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335507" "04214" "00446272" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335508" "04214" "00446273" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335509" "04214" "00446274" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335510" "04214" "00446275" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335511" "04214" "00446276" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335512" "04214" "00446277" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335513" "04214" "00446278" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335514" "04214" "00446279" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335515" "04214" "00446280" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335516" "04214" "00446281" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335517" "04214" "00446282" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335518" "04214" "00446283" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335519" "04214" "00446284" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335520" "04214" "00446285" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335521" "04214" "00446286" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335522" "04214" "00446287" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335523" "04214" "00446288" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335524" "04214" "00446289" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335525" "04214" "00446290" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335526" "04214" "00446291" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335527" "04214" "00446292" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335528" "04214" "00446293" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335529" "04214" "00446294" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335530" "04214" "00446295" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335531" "04214" "00446296" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335532" "04214" "00446297" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335533" "04214" "00446298" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335534" "04214" "00446299" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335535" "04214" "00446300" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335536" "04214" "00446301" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335537" "04214" "00446302" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335538" "04214" "00446303" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335539" "04214" "00446304" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335540" "04214" "00446305" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335541" "04214" "00446306" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335542" "04214" "00446307" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335543" "04214" "00446308" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335544" "04214" "00446309" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335545" "04214" "00446310" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335546" "04214" "00446311" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335547" "04214" "00446312" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335548" "04214" "00446313" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335549" "04214" "00446314" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335550" "04214" "00446315" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335551" "04214" "00446316" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335552" "04214" "00446317" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335553" "04214" "00446318" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335554" "04214" "00446319" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335555" "04214" "00446320" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335556" "04214" "00446321" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335557" "04214" "00446322" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335558" "04214" "00446323" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335559" "04214" "00446324" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335560" "04214" "00446325" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335561" "04214" "00446326" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335562" "04214" "00446327" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335563" "04214" "00446328" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335564" "04214" "00446329" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335565" "04214" "00446330" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335566" "04214" "00446331" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335567" "04214" "00446332" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335568" "04214" "00446333" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335569" "04214" "00446334" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335570" "04214" "00446335" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335571" "04214" "00446336" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335572" "04214" "00446337" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335573" "04214" "00446338" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335574" "04214" "00446339" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335575" "04214" "00446340" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335576" "04214" "00446341" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335577" "04214" "00446342" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335578" "04214" "00446343" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335579" "04214" "00446344" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335580" "04214" "00446345" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335581" "04214" "00446346" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335582" "04214" "00446347" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335583" "04214" "00446348" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335584" "04214" "00446349" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335585" "04214" "00446350" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335586" "04214" "00446351" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335587" "04214" "00446352" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335588" "04214" "00446353" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335589" "04214" "00446354" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335590" "04214" "00446355" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335591" "04214" "00446356" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335592" "04214" "00446357" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335593" "04214" "00446358" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335594" "04214" "00446359" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335595" "04214" "00446360" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335596" "04214" "00446361" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335597" "04214" "00446362" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335598" "04214" "00446363" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000335599" "04214" "00446364" "01695" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ABCA4-associated retinopathy" ""
"0000336118" "00198" "00446919" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "achromatopsia" ""
"0000336119" "00198" "00446920" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "achromatopsia" ""
"0000336138" "00198" "00446939" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, autosomal dominant" ""
"0000336154" "00198" "00446955" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, autosomal dominant" ""
"0000336165" "00198" "00446966" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, autosomal recessive" ""
"0000336245" "00198" "00447046" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "central areolar choroidal dystrophy" ""
"0000336246" "00198" "00447047" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "central areolar choroidal dystrophy" ""
"0000336247" "00198" "00447048" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "central areolar choroidal dystrophy" ""
"0000336252" "00198" "00447053" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone dystrophy" ""
"0000336255" "00198" "00447056" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone dystrophy" ""
"0000336275" "00198" "00447076" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000336282" "00198" "00447083" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000336283" "00198" "00447084" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000336284" "00198" "00447085" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000336286" "00198" "00447087" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000336288" "00198" "00447089" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000336290" "00198" "00447091" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000336291" "00198" "00447092" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000336293" "00198" "00447094" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000336295" "00198" "00447096" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000336296" "00198" "00447097" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000336299" "00198" "00447100" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000336304" "00198" "00447105" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000336306" "00198" "00447107" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000336307" "00198" "00447108" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000336310" "00198" "00447111" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000336311" "00198" "00447112" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000336312" "00198" "00447113" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000336313" "00198" "00447114" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000336314" "00198" "00447115" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000336315" "00198" "00447116" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000336316" "00198" "00447117" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000336317" "00198" "00447118" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000336321" "00198" "00447122" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000336337" "00198" "00447138" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" ""
"0000336351" "00198" "00447152" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "macular dystrophy" ""
"0000336352" "00198" "00447153" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "macular dystrophy" ""
"0000336353" "00198" "00447154" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "macular dystrophy" ""
"0000336354" "00198" "00447155" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "macular dystrophy" ""
"0000336359" "00198" "00447160" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "macular dystrophy" ""
"0000336360" "00198" "00447161" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "macular dystrophy" ""
"0000336361" "00198" "00447162" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "macular dystrophy" ""
"0000336362" "00198" "00447163" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "macular dystrophy" ""
"0000336364" "00198" "00447165" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "macular dystrophy" ""
"0000336367" "00198" "00447168" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "macular dystrophy" ""
"0000336372" "00198" "00447173" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "macular dystrophy" ""
"0000336382" "00198" "00447183" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "macular dystrophy" ""
"0000336384" "00198" "00447185" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "macular dystrophy" ""
"0000336390" "00198" "00447191" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "eye diseaes" ""
"0000336398" "00198" "00447199" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "eye diseaes" ""
"0000336480" "00198" "00447281" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, simplex" ""
"0000336484" "00198" "00447285" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, simplex" ""
"0000336493" "00198" "00447294" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, simplex" ""
"0000336503" "00198" "00447304" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, simplex" ""
"0000336526" "00198" "00447327" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, simplex" ""
"0000336530" "00198" "00447331" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000336531" "00198" "00447332" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000336533" "00198" "00447334" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000336534" "00198" "00447335" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000336535" "00198" "00447336" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000336536" "00198" "00447337" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000336537" "00198" "00447338" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000336538" "00198" "00447339" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000336539" "00198" "00447340" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000336540" "00198" "00447341" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000336541" "00198" "00447342" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000336542" "00198" "00447343" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000336543" "00198" "00447344" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000336544" "00198" "00447345" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000336545" "00198" "00447346" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000336546" "00198" "00447347" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000336547" "00198" "00447348" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000336548" "00198" "00447349" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000336549" "00198" "00447350" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000336550" "00198" "00447351" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000336551" "00198" "00447352" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000336552" "00198" "00447353" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000336553" "00198" "00447354" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000336554" "00198" "00447355" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000336556" "00198" "00447357" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000336557" "00198" "00447358" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000336558" "00198" "00447359" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000336559" "00198" "00447360" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000336560" "00198" "00447361" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000336561" "00198" "00447362" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000336562" "00198" "00447363" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000336563" "00198" "00447364" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000336564" "00198" "00447365" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000336565" "00198" "00447366" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000336566" "00198" "00447367" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000336567" "00198" "00447368" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000336568" "00198" "00447369" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000336569" "00198" "00447370" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000336570" "00198" "00447371" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000336571" "00198" "00447372" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000336572" "00198" "00447373" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000336573" "00198" "00447374" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000336574" "00198" "00447375" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000336575" "00198" "00447376" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000336576" "00198" "00447377" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000336577" "00198" "00447378" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000336578" "00198" "00447379" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000336579" "00198" "00447380" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000336580" "00198" "00447381" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000336581" "00198" "00447382" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000336582" "00198" "00447383" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000336583" "00198" "00447384" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000336584" "00198" "00447385" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000336585" "00198" "00447386" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000336586" "00198" "00447387" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000336587" "00198" "00447388" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000336588" "00198" "00447389" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000336589" "00198" "00447390" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000336590" "00198" "00447391" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000336591" "00198" "00447392" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000336592" "00198" "00447393" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000336593" "00198" "00447394" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000336595" "00198" "00447396" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000336596" "00198" "00447397" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000336597" "00198" "00447398" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000336598" "00198" "00447399" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000336722" "00198" "00447523" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone dystrophy" ""
"0000336736" "00198" "00447537" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000336759" "00198" "00447560" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "macular dystrophy" ""
"0000336760" "00198" "00447561" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "macular dystrophy" ""
"0000336770" "00198" "00447571" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "eye diseaes" ""
"0000336796" "00198" "00447597" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, simplex" ""
"0000336825" "00198" "00447626" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000336826" "00198" "00447627" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000336827" "00198" "00447628" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000336828" "00198" "00447629" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000336829" "00198" "00447630" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000336830" "00198" "00447631" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000336831" "00198" "00447632" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000336834" "00198" "00447635" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "unclear diagnosis" ""
"0000336849" "00198" "00447650" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, autosomal dominant" ""
"0000336851" "00198" "00447652" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, autosomal recessive" ""
"0000336854" "00198" "00447655" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, autosomal recessive" ""
"0000336859" "00198" "00447660" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cone dystrophy" ""
"0000336864" "00198" "00447665" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cone dystrophy" ""
"0000336866" "00198" "00447667" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000336867" "00198" "00447668" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000336868" "00198" "00447669" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000336869" "00198" "00447670" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000336871" "00198" "00447672" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Leber hereditary optic neuropathy" ""
"0000336873" "00198" "00447674" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "macular dystrophy" ""
"0000336875" "00198" "00447676" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "macular dystrophy" ""
"0000336886" "00198" "00447687" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" ""
"0000336889" "00198" "00447690" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, simplex" ""
"0000336894" "00198" "00447695" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, simplex" ""
"0000336899" "00198" "00447700" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, simplex" ""
"0000336903" "00198" "00447704" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, simplex" ""
"0000336907" "00198" "00447708" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, simplex" ""
"0000336920" "00198" "00447721" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339038" "04214" "00449978" "02230" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000339039" "04214" "00449979" "02230" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "STGD1" "retinal disease" ""
"0000339577" "04249" "00450522" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339578" "04249" "00450523" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339579" "04249" "00450524" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339580" "04249" "00450525" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000339581" "04249" "00450526" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339582" "04249" "00450527" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339583" "04249" "00450528" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339584" "04249" "00450529" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000339585" "04249" "00450530" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339586" "04249" "00450531" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "macular dystrophy-PS" ""
"0000339587" "04249" "00450532" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339588" "04249" "00450533" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "macular dystrophy" ""
"0000339589" "04249" "00450534" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339590" "04249" "00450535" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339591" "04249" "00450536" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339592" "04249" "00450537" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339593" "04249" "00450538" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339594" "04249" "00450539" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339595" "04249" "00450540" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339596" "04249" "00450541" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339597" "04249" "00450542" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339598" "04249" "00450543" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339599" "04249" "00450544" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339600" "04249" "00450545" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339601" "04249" "00450546" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339602" "04249" "00450547" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339603" "04249" "00450548" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339604" "04249" "00450549" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339605" "04249" "00450550" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339606" "04249" "00450551" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339607" "04249" "00450552" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339608" "04249" "00450553" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339609" "04249" "00450554" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339610" "04249" "00450555" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339611" "04249" "00450556" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000339612" "04249" "00450557" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339613" "04249" "00450558" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339614" "04249" "00450559" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339615" "04249" "00450560" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339616" "04249" "00450561" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339617" "04249" "00450562" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339618" "04249" "00450563" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339619" "04249" "00450564" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339620" "04249" "00450565" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339621" "04249" "00450566" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339622" "04249" "00450567" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339623" "04249" "00450568" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339624" "04249" "00450569" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339625" "04249" "00450570" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339626" "04249" "00450571" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339627" "04249" "00450572" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339628" "04249" "00450573" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339629" "04249" "00450574" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339630" "04249" "00450575" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339631" "04249" "00450576" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339632" "04249" "00450577" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339633" "04249" "00450578" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339634" "04249" "00450579" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339635" "04249" "00450580" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000339636" "04249" "00450581" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339637" "04249" "00450582" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "macular dystrophy-I" ""
"0000339638" "04249" "00450583" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339639" "04249" "00450584" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000339640" "04249" "00450585" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339641" "04249" "00450586" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339642" "04249" "00450587" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339643" "04249" "00450588" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339644" "04249" "00450589" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339645" "04249" "00450590" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000339646" "04249" "00450591" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000339647" "04249" "00450592" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339648" "04249" "00450593" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339649" "04249" "00450594" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339650" "04249" "00450595" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339651" "04249" "00450596" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339652" "04249" "00450597" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339653" "04249" "00450598" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339654" "04249" "00450599" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339655" "04249" "00450600" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339656" "04249" "00450601" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339657" "04249" "00450602" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339658" "04249" "00450603" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339659" "04249" "00450604" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339660" "04249" "00450605" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339661" "04249" "00450606" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339662" "04249" "00450607" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cone dystrophy-I" ""
"0000339664" "04249" "00450609" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339665" "04249" "00450610" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339666" "04249" "00450611" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339667" "04249" "00450612" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339668" "04249" "00450613" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "macular dystrophy" ""
"0000339669" "04249" "00450614" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339670" "04249" "00450615" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339671" "04249" "00450616" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339672" "04249" "00450617" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339673" "04249" "00450618" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cone dystrophy" ""
"0000339674" "04249" "00450619" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339675" "04249" "00450620" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339676" "04249" "00450621" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000339677" "04249" "00450622" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339678" "04249" "00450623" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339679" "04249" "00450624" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339680" "04249" "00450625" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339681" "04249" "00450626" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339682" "04249" "00450627" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339683" "04249" "00450628" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339684" "04249" "00450629" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339685" "04249" "00450630" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339686" "04249" "00450631" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339687" "04249" "00450632" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339688" "04249" "00450633" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339689" "04249" "00450634" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "macular dystrophy" ""
"0000339690" "04249" "00450635" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339691" "04249" "00450636" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339692" "04249" "00450637" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339693" "04249" "00450638" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339694" "04249" "00450639" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339695" "04249" "00450640" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000339696" "04249" "00450641" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339697" "04249" "00450642" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "macular dystrophy" ""
"0000339698" "04249" "00450643" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339699" "04249" "00450644" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339700" "04249" "00450645" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339701" "04249" "00450646" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "macular dystrophy" ""
"0000339702" "04249" "00450647" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339703" "04249" "00450648" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339704" "04249" "00450649" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339705" "04249" "00450650" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339706" "04249" "00450651" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339707" "04249" "00450652" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339708" "04249" "00450653" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339709" "04249" "00450654" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339710" "04249" "00450655" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339711" "04249" "00450656" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339712" "04249" "00450657" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cone dystrophy" ""
"0000339713" "04249" "00450658" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339714" "04249" "00450659" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339715" "04249" "00450660" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339716" "04249" "00450661" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "macular dystrophy" ""
"0000339717" "04249" "00450662" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "macular dystrophy" ""
"0000339718" "04249" "00450663" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "macular dystrophy" ""
"0000339719" "04249" "00450664" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339720" "04249" "00450665" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339721" "04249" "00450666" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339722" "04249" "00450667" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339723" "04249" "00450668" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339724" "04249" "00450669" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339725" "04249" "00450670" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339726" "04249" "00450671" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339727" "04249" "00450672" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339728" "04249" "00450673" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339729" "04249" "00450674" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339730" "04249" "00450675" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339731" "04249" "00450676" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339732" "04249" "00450677" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "macular dystrophy" ""
"0000339733" "04249" "00450678" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339734" "04249" "00450679" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "macular dystrophy" ""
"0000339735" "04249" "00450680" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339736" "04249" "00450681" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339737" "04249" "00450682" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339738" "04249" "00450683" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339739" "04249" "00450684" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339740" "04249" "00450685" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339741" "04249" "00450686" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339742" "04249" "00450687" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339743" "04249" "00450688" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339744" "04249" "00450689" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339745" "04249" "00450690" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339746" "04249" "00450691" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339747" "04249" "00450692" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339748" "04249" "00450693" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339749" "04249" "00450694" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339750" "04249" "00450695" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cone dystrophy" ""
"0000339751" "04249" "00450696" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339752" "04249" "00450697" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000339753" "04249" "00450698" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339754" "04249" "00450699" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339755" "04249" "00450700" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "macular dystrophy" ""
"0000339756" "04249" "00450701" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cone dystrophy-I" ""
"0000339757" "04249" "00450702" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339758" "04249" "00450703" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339759" "04249" "00450704" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339760" "04249" "00450705" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339761" "04249" "00450706" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" ""
"0000339762" "04249" "00450707" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339763" "04249" "00450708" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339764" "04249" "00450709" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339765" "04249" "00450710" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000339766" "04249" "00450711" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000340041" "04249" "00450986" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000340085" "04249" "00450608" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000340298" "00057" "00451637" "04221" "Familial, autosomal recessive" "" "Global developmental delay, Spasticity, Amblyopia" "" "00y03m" "03y06m" "" "" "" "" "" "Maple syrup urine disease, type II" "Maple syrup urine disease" ""
"0000348566" "04214" "00461066" "00006" "Familial, autosomal recessive" "" "" "3y" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000348568" "04214" "00461068" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000348570" "04214" "00461070" "00006" "Familial, autosomal recessive" "" "" "7y" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000348571" "04214" "00461071" "00006" "Familial, autosomal recessive" "" "" "9y" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000348580" "04214" "00461080" "00006" "Familial, autosomal recessive" "" "" "10y" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000348583" "04214" "00461083" "00006" "Familial, autosomal recessive" "" "" "8y" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000348601" "04214" "00461101" "00006" "Familial, autosomal recessive" "" "" "childhood" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000348603" "04214" "00461103" "00006" "Familial, autosomal recessive" "" "" "8y" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000348604" "04214" "00461104" "00006" "Familial, autosomal recessive" "" "" "8y" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000348605" "04214" "00461105" "00006" "Familial, autosomal recessive" "" "" "22y" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000348606" "04214" "00461106" "00006" "Familial, autosomal recessive" "" "" "30y" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000348607" "04214" "00461107" "00006" "Familial, autosomal recessive" "" "" "38y" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000348620" "04214" "00461120" "00006" "Familial, autosomal recessive" "" "" "9y" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000348621" "04214" "00461121" "00006" "Familial, autosomal recessive" "" "" "7y" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000348626" "04214" "00461126" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "macular degeneration" ""
"0000348636" "04214" "00461136" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000348639" "04214" "00461139" "00006" "Familial, autosomal recessive" "" "" "20y" "" "" "" "" "" "" "" "" "Best disease" ""
"0000348640" "04214" "00461140" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000352987" "04214" "00467833" "00006" "Familial, autosomal recessive" "46y" "see paper; ..., deceased; BVCA right count fingers, left 20/100; progression retinopathy OU with foveal sparing" "" "" "" "" "" "" "" "" "RP19" "retinopathy" ""
## Screenings ## Do not remove or alter this header ##
## Count = 18632
"{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}"
"0000000238" "00000232" "1" "00041" "00041" "2012-10-28 22:54:17" "" "" "SEQ" "DNA" "" ""
"0000000240" "00000234" "1" "00041" "00041" "2012-10-28 22:59:42" "" "" "SEQ" "DNA" "" ""
"0000001594" "00001791" "1" "00102" "00102" "2013-08-08 18:56:25" "" "" "SEQ-NG-I" "DNA" "" ""
"0000001612" "00001809" "1" "00102" "00102" "2013-08-08 22:33:16" "" "" "SEQ-NG-I" "DNA" "" ""
"0000016554" "00016603" "1" "00552" "00552" "2014-05-23 13:03:28" "" "" "SEQ-NG-I" "DNA" "" ""
"0000016568" "00016614" "1" "00552" "00552" "2014-05-23 13:47:10" "" "" "SEQ-NG-I" "DNA" "" ""
"0000016831" "00016862" "1" "00717" "00717" "2014-06-04 19:41:51" "" "" "SEQ-NG-I" "DNA" "" ""
"0000016832" "00016863" "1" "00717" "00717" "2014-06-04 19:57:07" "" "" "SEQ-NG-I" "DNA" "" ""
"0000016833" "00016864" "1" "00717" "00717" "2014-06-04 20:06:33" "" "" "SEQ-NG-I" "DNA" "" ""
"0000016834" "00016865" "1" "00717" "00717" "2014-06-04 20:12:40" "" "" "SEQ-NG-I" "DNA" "" ""
"0000016835" "00016866" "1" "00717" "00717" "2014-06-04 20:17:29" "" "" "SEQ-NG-I" "DNA" "" ""
"0000016836" "00016867" "1" "00717" "00717" "2014-06-04 20:21:46" "" "" "SEQ-NG-I" "DNA" "" ""
"0000016838" "00016868" "1" "00717" "00717" "2014-06-04 20:48:19" "" "" "SEQ-NG-I" "DNA" "" ""
"0000016839" "00016869" "1" "00717" "00717" "2014-06-04 21:16:58" "" "" "SEQ-NG-I" "DNA" "" ""
"0000016840" "00016870" "1" "00717" "00717" "2014-06-04 21:22:09" "" "" "SEQ-NG-I" "DNA" "" ""
"0000016841" "00016871" "1" "00717" "00717" "2014-06-04 21:29:21" "" "" "SEQ-NG-I" "DNA" "" ""
"0000016842" "00016872" "1" "00717" "00717" "2014-06-04 21:36:50" "" "" "SEQ-NG-I" "DNA" "" ""
"0000016843" "00016873" "1" "00717" "00717" "2014-06-04 21:45:56" "" "" "SEQ-NG-I" "DNA" "" ""
"0000016845" "00016875" "1" "00717" "00717" "2014-06-04 21:53:17" "" "" "SEQ-NG-I" "DNA" "" ""
"0000016846" "00016876" "1" "00717" "00717" "2014-06-04 21:57:03" "" "" "SEQ-NG-I" "DNA" "" ""
"0000016847" "00016877" "1" "00717" "00717" "2014-06-04 22:02:02" "" "" "SEQ-NG-I" "DNA" "" ""
"0000016848" "00016878" "1" "00717" "00717" "2014-06-04 22:12:34" "" "" "SEQ-NG-I" "DNA" "" ""
"0000016849" "00016879" "1" "00717" "00717" "2014-06-04 22:19:28" "" "" "SEQ-NG-I" "DNA" "" ""
"0000016861" "00016892" "1" "00717" "00717" "2014-06-05 18:14:53" "" "" "SEQ-NG-I" "DNA" "" ""
"0000016862" "00016893" "1" "00717" "00717" "2014-06-05 18:30:08" "" "" "SEQ-NG-I" "DNA" "" ""
"0000016863" "00016894" "1" "00717" "00717" "2014-06-05 18:40:20" "" "" "SEQ-NG-I" "DNA" "" ""
"0000016864" "00016895" "1" "00717" "00717" "2014-06-05 18:45:22" "" "" "SEQ-NG-I" "DNA" "" ""
"0000016865" "00016896" "1" "00717" "00717" "2014-06-05 18:49:40" "" "" "SEQ-NG-I" "DNA" "" ""
"0000016866" "00016897" "1" "00717" "00717" "2014-06-05 18:57:58" "" "" "SEQ-NG-I" "DNA" "" ""
"0000016867" "00016898" "1" "00717" "00717" "2014-06-05 19:05:26" "" "" "SEQ-NG-I" "DNA" "" ""
"0000016868" "00016899" "1" "00717" "00717" "2014-06-05 19:11:50" "" "" "SEQ-NG-I" "DNA" "" ""
"0000016869" "00016900" "1" "00717" "00717" "2014-06-05 20:38:16" "" "" "SEQ-NG-I" "DNA" "" ""
"0000016870" "00016901" "1" "00717" "00717" "2014-06-05 20:45:01" "" "" "SEQ-NG-I" "DNA" "" ""
"0000016871" "00016902" "1" "00717" "00717" "2014-06-05 20:48:43" "" "" "SEQ-NG-I" "DNA" "" ""
"0000016875" "00016904" "1" "00717" "00717" "2014-06-05 20:54:05" "" "" "SEQ-NG-I" "DNA" "" ""
"0000016876" "00016905" "1" "00717" "00717" "2014-06-05 21:02:07" "" "" "SEQ-NG-I" "DNA" "" ""
"0000016877" "00016906" "1" "00717" "00717" "2014-06-05 21:05:19" "" "" "SEQ-NG-I" "DNA" "" ""
"0000016878" "00016907" "1" "00717" "00717" "2014-06-05 21:12:55" "" "" "SEQ-NG-I" "DNA" "" ""
"0000016879" "00016908" "1" "00717" "00717" "2014-06-05 21:43:56" "" "" "SEQ-NG-I" "DNA" "" ""
"0000016880" "00016909" "1" "00717" "00717" "2014-06-05 21:51:24" "" "" "SEQ-NG-I" "DNA" "" ""
"0000016881" "00016910" "1" "00717" "00717" "2014-06-05 21:56:39" "" "" "SEQ-NG-I" "DNA" "" ""
"0000016882" "00016911" "1" "00717" "00717" "2014-06-05 22:00:09" "" "" "SEQ-NG-I" "DNA" "" ""
"0000016883" "00016912" "1" "00717" "00717" "2014-06-05 22:03:19" "" "" "SEQ-NG-I" "DNA" "" ""
"0000016884" "00016913" "1" "00717" "00717" "2014-06-05 22:07:42" "" "" "SEQ-NG-I" "DNA" "" ""
"0000016886" "00016915" "1" "00717" "00717" "2014-06-05 22:14:32" "" "" "SEQ-NG-I" "DNA" "" ""
"0000016888" "00016917" "1" "00717" "00717" "2014-06-05 22:18:41" "" "" "SEQ-NG-I" "DNA" "" ""
"0000016889" "00016918" "1" "00717" "00717" "2014-06-05 22:21:29" "" "" "SEQ-NG-I" "DNA" "" ""
"0000033155" "00033087" "1" "00229" "00229" "2012-02-04 14:23:49" "00006" "2012-05-18 13:59:33" "SEQ;SEQ-NG-S" "DNA" "" ""
"0000033161" "00033093" "1" "00229" "00229" "2012-02-04 14:23:49" "00006" "2012-05-18 13:59:34" "SEQ;SEQ-NG-S" "DNA" "" ""
"0000033192" "00033124" "1" "00229" "00229" "2012-02-04 14:23:49" "00006" "2012-05-18 13:59:33" "SEQ;SEQ-NG-S" "DNA" "" ""
"0000033198" "00033130" "1" "00229" "00229" "2012-02-04 14:23:49" "00006" "2012-05-18 13:59:33" "SEQ;SEQ-NG-S" "DNA" "" ""
"0000033200" "00033132" "1" "00229" "00229" "2012-02-04 14:23:49" "00006" "2012-05-18 13:59:33" "SEQ;SEQ-NG-S" "DNA" "" ""
"0000033205" "00033137" "1" "00229" "00229" "2012-02-04 14:23:49" "00006" "2012-05-18 13:59:32" "SEQ;SEQ-NG-S" "DNA" "" ""
"0000033220" "00033152" "1" "00229" "00229" "2012-02-04 14:23:49" "00006" "2012-05-18 13:59:33" "SEQ;SEQ-NG-S" "DNA" "" ""
"0000033221" "00033153" "1" "00229" "00229" "2012-02-04 14:23:49" "00006" "2012-05-18 13:59:34" "SEQ;SEQ-NG-S" "DNA" "" ""
"0000033410" "00033342" "1" "00039" "00039" "2012-09-18 12:14:00" "" "" "SEQ-NG-I" "DNA" "" ""
"0000033706" "00033638" "1" "01245" "01245" "2014-10-11 14:12:32" "00006" "2014-10-16 18:12:32" "SEQ-NG-I" "DNA" "" ""
"0000033707" "00033639" "1" "01245" "01245" "2014-10-11 14:23:37" "00006" "2014-10-16 18:12:32" "SEQ-NG-I" "DNA" "" ""
"0000033708" "00033640" "1" "01245" "01245" "2014-10-11 14:32:12" "00006" "2014-10-16 18:12:32" "SEQ-NG-I" "DNA" "" ""
"0000033709" "00033641" "1" "01245" "01245" "2014-10-11 14:35:14" "00006" "2014-10-16 18:12:32" "SEQ-NG-I" "DNA" "" ""
"0000033710" "00033642" "1" "01245" "01245" "2014-10-16 18:15:06" "" "" "SEQ-NG-I" "DNA" "" ""
"0000033711" "00033643" "1" "00006" "00006" "2014-10-16 18:15:06" "" "" "SEQ" "DNA" "" ""
"0000033712" "00033644" "1" "00006" "00006" "2014-10-16 18:15:06" "" "" "SEQ" "DNA" "" ""
"0000033713" "00033645" "1" "00006" "00006" "2014-10-16 18:15:06" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000033714" "00033646" "1" "00006" "00006" "2014-10-16 18:15:06" "" "" "SEQ" "DNA" "" ""
"0000033715" "00033647" "1" "00006" "00006" "2014-10-16 18:15:06" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000033716" "00033648" "1" "00006" "00006" "2014-10-16 18:15:06" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000033717" "00033649" "1" "00006" "00006" "2014-10-16 18:15:06" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000033718" "00033650" "1" "00006" "00006" "2014-10-16 18:15:06" "" "" "SEQ" "DNA" "" ""
"0000033719" "00033651" "1" "00006" "00006" "2014-10-16 18:15:06" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000033720" "00033652" "1" "00006" "00006" "2014-10-16 18:15:06" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000033721" "00033653" "1" "00006" "00006" "2014-10-16 18:15:06" "" "" "SEQ" "DNA" "" ""
"0000033722" "00033654" "1" "00006" "00006" "2014-10-16 18:15:06" "" "" "SEQ" "DNA" "" ""
"0000033723" "00033655" "1" "00006" "00006" "2014-10-16 18:15:06" "" "" "SEQ" "DNA" "" ""
"0000033724" "00033656" "1" "00006" "00006" "2014-10-16 18:15:06" "" "" "SEQ" "DNA" "" ""
"0000033725" "00033657" "1" "00006" "00006" "2014-10-16 18:15:06" "" "" "SEQ" "DNA" "" ""
"0000033726" "00033658" "1" "00006" "00006" "2014-10-16 18:15:06" "" "" "SEQ" "DNA" "" ""
"0000033727" "00033659" "1" "00006" "00006" "2014-10-16 18:15:06" "" "" "SEQ" "DNA" "" ""
"0000033728" "00033660" "1" "00006" "00006" "2014-10-16 18:15:06" "" "" "SEQ" "DNA" "" ""
"0000033729" "00033661" "1" "00006" "00006" "2014-10-16 18:15:06" "" "" "SEQ" "DNA" "" ""
"0000033730" "00033662" "1" "00006" "00006" "2014-10-16 18:15:06" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000033731" "00033663" "1" "00006" "00006" "2014-10-16 18:15:06" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000033732" "00033664" "1" "00006" "00006" "2014-10-16 18:15:06" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000033733" "00033665" "1" "00006" "00006" "2014-10-16 18:15:06" "" "" "SEQ" "DNA" "" ""
"0000033734" "00033666" "1" "00006" "00006" "2014-10-16 18:15:06" "" "" "SEQ" "DNA" "" ""
"0000033735" "00033667" "1" "01247" "01247" "2014-11-11 14:07:09" "00006" "2014-11-15 17:22:47" "SEQ" "DNA" "" ""
"0000033736" "00033668" "1" "01247" "01247" "2014-11-13 16:07:51" "00006" "2014-11-15 17:16:45" "SEQ" "DNA" "" ""
"0000033737" "00033669" "1" "01247" "01247" "2014-11-14 15:41:45" "00006" "2014-11-15 17:21:17" "SEQ" "DNA" "" ""
"0000033738" "00033670" "1" "01247" "01247" "2014-11-14 16:43:21" "00006" "2014-11-15 17:14:33" "SEQ" "DNA" "" ""
"0000033739" "00033671" "1" "01247" "01247" "2014-11-15 16:48:03" "00006" "2014-11-15 16:55:24" "SEQ" "DNA" "" ""
"0000033740" "00033672" "1" "01247" "01247" "2014-11-15 16:54:42" "" "" "SEQ" "DNA" "" ""
"0000033741" "00033673" "1" "01247" "01247" "2014-11-15 16:58:54" "" "" "SEQ" "DNA" "" ""
"0000033742" "00033674" "1" "01247" "01247" "2014-11-15 17:12:04" "00006" "2014-12-02 12:06:13" "SEQ" "DNA" "" ""
"0000033743" "00033675" "1" "01247" "01247" "2014-11-15 18:25:53" "" "" "SEQ" "DNA" "" ""
"0000033744" "00033676" "1" "01247" "01247" "2014-11-15 18:33:19" "" "" "SEQ-NG-I" "DNA" "" ""
"0000033745" "00033677" "1" "01247" "01247" "2014-11-15 18:37:46" "" "" "SEQ" "DNA" "" ""
"0000033751" "00033683" "1" "01247" "01247" "2014-12-19 15:28:03" "00006" "2016-07-15 10:28:38" "MLPA;SEQ" "DNA" "" ""
"0000033772" "00033704" "1" "01248" "01248" "2015-02-23 17:49:37" "" "" "SEQ;SEQ-NG-R" "DNA" "" ""
"0000033773" "00033705" "1" "01248" "01248" "2015-02-23 20:44:40" "" "" "SEQ;SEQ-NG-R" "DNA" "" ""
"0000033774" "00033706" "1" "01248" "01248" "2015-02-23 20:52:31" "" "" "SEQ;SEQ-NG-R" "DNA" "" ""
"0000033775" "00033707" "1" "01248" "01248" "2015-02-23 21:13:04" "" "" "SEQ;SEQ-NG-R" "DNA" "" ""
"0000033776" "00033708" "1" "01248" "01248" "2015-02-23 21:18:21" "" "" "SEQ;SEQ-NG-R" "DNA" "" ""
"0000033777" "00033709" "1" "01248" "01248" "2015-02-23 21:35:10" "" "" "SEQ;SEQ-NG-R" "DNA" "" ""
"0000033778" "00033710" "1" "01248" "01248" "2015-02-23 21:52:49" "" "" "SEQ;SEQ-NG-R" "DNA" "" ""
"0000033779" "00033711" "1" "01248" "01248" "2015-02-23 22:01:27" "" "" "SEQ;SEQ-NG-R" "DNA" "" ""
"0000033780" "00033712" "1" "01248" "01248" "2015-02-23 22:06:57" "" "" "SEQ;SEQ-NG-R" "DNA" "" ""
"0000033781" "00033713" "1" "01248" "01248" "2015-02-23 22:13:43" "" "" "SEQ;SEQ-NG-R" "DNA" "" ""
"0000033782" "00033714" "1" "01248" "01248" "2015-02-23 22:16:21" "" "" "SEQ;SEQ-NG-R" "DNA" "" ""
"0000033783" "00033715" "1" "01248" "01248" "2015-02-23 22:23:21" "" "" "SEQ;SEQ-NG-R" "DNA" "" ""
"0000033784" "00033716" "1" "01248" "01248" "2015-02-23 22:27:30" "" "" "SEQ;SEQ-NG-R" "DNA" "" ""
"0000033785" "00033717" "1" "01248" "01248" "2015-02-23 22:33:37" "" "" "SEQ;SEQ-NG-R" "DNA" "" ""
"0000033786" "00033718" "1" "01248" "01248" "2015-02-23 22:41:12" "" "" "SEQ;SEQ-NG-R" "DNA" "" ""
"0000033787" "00033719" "1" "01248" "01248" "2015-02-23 22:45:31" "" "" "SEQ;SEQ-NG-R" "DNA" "" ""
"0000038553" "00038322" "1" "01251" "01251" "2015-05-01 22:00:00" "" "" "SSCA;DHPLC;SEQ-NG;PCR;SEQ" "DNA" "" ""
"0000038602" "00038371" "1" "01251" "01251" "2015-05-01 22:00:00" "" "" "SEQ-NG-I;PCR;SEQ" "DNA" "" ""
"0000050640" "00050695" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" ""
"0000052897" "00052949" "1" "01424" "01424" "2015-10-26 17:05:36" "" "" "SEQ-NG;PCR;SEQ" "DNA" "" ""
"0000057744" "00057783" "1" "01338" "01338" "2016-01-20 11:48:58" "" "" "SEQ-NG-I" "DNA" "" ""
"0000074862" "00074686" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000074863" "00074687" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000074864" "00074688" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "arraySEQ;PCR;SEQ" "DNA" "" ""
"0000074865" "00074689" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "arraySEQ;PCR;SEQ" "DNA" "" ""
"0000074866" "00074690" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "arraySEQ;PCR;SEQ" "DNA" "" ""
"0000074867" "00074691" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "arraySEQ;PCR;SEQ" "DNA" "" ""
"0000074868" "00074692" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "arraySEQ;PCR;SEQ" "DNA" "" ""
"0000074869" "00074693" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I" "DNA" "" ""
"0000074870" "00074694" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I" "DNA" "" ""
"0000074871" "00074695" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I" "DNA" "" ""
"0000074872" "00074696" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "arraySEQ;PCR;SEQ" "DNA" "" ""
"0000074873" "00074697" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "arraySEQ;PCR;SEQ" "DNA" "" ""
"0000074874" "00074698" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG;PCR;SEQ" "DNA" "" ""
"0000074875" "00074699" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG;PCR;SEQ" "DNA" "" ""
"0000074876" "00074700" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG;PCR;SEQ" "DNA" "" ""
"0000074877" "00074701" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG;PCR;SEQ" "DNA" "" ""
"0000074878" "00074702" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG;PCR;SEQ" "DNA" "" ""
"0000074879" "00074703" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG;PCR;SEQ" "DNA" "" ""
"0000074880" "00074704" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;SEQ-NG-R;SEQ" "DNA" "" ""
"0000074881" "00074705" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;SEQ-NG-R;SEQ" "DNA" "" ""
"0000074882" "00074706" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;SEQ-NG-R;SEQ" "DNA" "" ""
"0000074883" "00074707" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;SEQ-NG-R;SEQ" "DNA" "" ""
"0000074884" "00074708" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-S" "DNA" "" ""
"0000074885" "00074709" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-S" "DNA" "" ""
"0000074886" "00074710" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-S" "DNA" "" ""
"0000074887" "00074711" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-S" "DNA" "" ""
"0000074888" "00074712" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-S" "DNA" "" ""
"0000074889" "00074713" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;PCR;SEQ" "DNA" "" ""
"0000074890" "00074714" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;PCR;SEQ" "DNA" "" ""
"0000074891" "00074715" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;PCR;SEQ" "DNA" "" ""
"0000074892" "00074716" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-S;PCR;SEQ" "DNA" "" ""
"0000074893" "00074717" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-S;PCR;SEQ" "DNA" "" ""
"0000074894" "00074718" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-S;PCR;SEQ" "DNA" "" ""
"0000074895" "00074719" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;PCR;SEQ" "DNA" "" ""
"0000074896" "00074720" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;PCR;SEQ" "DNA" "" ""
"0000074897" "00074721" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;PCR;SEQ" "DNA" "" ""
"0000074898" "00074722" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;PCR;SEQ" "DNA" "" ""
"0000074899" "00074723" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 10:08:17" "PCR;PE;SEQ" "DNA" "" "APEX"
"0000074900" "00074724" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ" "DNA" "" "APEX"
"0000074901" "00074725" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ" "DNA" "" "APEX"
"0000074902" "00074726" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ" "DNA" "" "APEX"
"0000074903" "00074727" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ" "DNA" "" "APEX"
"0000074904" "00074728" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ" "DNA" "" "APEX"
"0000074905" "00074729" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ" "DNA" "" "APEX"
"0000074906" "00074730" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ" "DNA" "" "APEX"
"0000074907" "00074731" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ" "DNA" "" "APEX"
"0000074908" "00074732" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ" "DNA" "" "APEX"
"0000074909" "00074733" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ" "DNA" "" "APEX"
"0000074910" "00074734" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ" "DNA" "" "APEX"
"0000074911" "00074735" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ" "DNA" "" "APEX"
"0000074912" "00074736" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ" "DNA" "" "APEX"
"0000074913" "00074737" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ" "DNA" "" "APEX"
"0000074914" "00074738" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ" "DNA" "" "APEX"
"0000074915" "00074739" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ" "DNA" "" "APEX"
"0000074916" "00074740" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ" "DNA" "" "APEX"
"0000074917" "00074741" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ" "DNA" "" "APEX"
"0000074918" "00074742" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ" "DNA" "" "APEX"
"0000074919" "00074743" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ" "DNA" "" "APEX"
"0000074920" "00074744" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ" "DNA" "" "APEX"
"0000074921" "00074745" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ" "DNA" "" "APEX"
"0000074922" "00074746" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ" "DNA" "" "APEX"
"0000074923" "00074747" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ" "DNA" "" "APEX"
"0000074924" "00074748" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ" "DNA" "" "APEX"
"0000074925" "00074749" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;PCR;SEQ" "DNA" "" ""
"0000074926" "00074750" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;PCR;SEQ" "DNA" "" ""
"0000074927" "00074751" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;PCR;SEQ" "DNA" "" ""
"0000074928" "00074752" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;PCR;SEQ" "DNA" "" ""
"0000074929" "00074753" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;PCR;SEQ" "DNA" "" ""
"0000074930" "00074754" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;PCR;SEQ" "DNA" "" ""
"0000074931" "00074755" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;PCR;SEQ" "DNA" "" ""
"0000074932" "00074756" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;PCR;SEQ" "DNA" "" ""
"0000074933" "00074757" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;PCR;SEQ" "DNA" "" ""
"0000074934" "00074758" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;PCR;SEQ" "DNA" "" ""
"0000074935" "00074759" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;PCR;SEQ" "DNA" "" ""
"0000074936" "00074760" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;PCR;SEQ" "DNA" "" ""
"0000074937" "00074761" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;PCR;SEQ" "DNA" "" ""
"0000074938" "00074762" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000074939" "00074763" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;PCR;SEQ" "DNA" "" ""
"0000074940" "00074764" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;PCR;SEQ" "DNA" "" ""
"0000074941" "00074765" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;PCR;SEQ" "DNA" "" ""
"0000074942" "00074766" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;PCR;SEQ" "DNA" "" ""
"0000074943" "00074767" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;PCR;SEQ" "DNA" "" ""
"0000074944" "00074768" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;PCR;SEQ" "DNA" "" ""
"0000074945" "00074769" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;PCR;SEQ" "DNA" "" ""
"0000074946" "00074770" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "MLPA" "DNA" "" ""
"0000074947" "00074771" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2018-03-24 08:57:09" "MLPA;RT-PCR;SEQ" "DNA;RNA" "" ""
"0000074948" "00074772" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "HD;SEQ" "DNA" "" ""
"0000074949" "00074773" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "HD;SEQ" "DNA" "" ""
"0000074950" "00074774" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "HD;SEQ" "DNA" "" ""
"0000074951" "00074775" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "HD;SEQ" "DNA" "" ""
"0000074952" "00074776" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "HD;SEQ" "DNA" "" ""
"0000074953" "00074777" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "HD;SEQ" "DNA" "" ""
"0000074954" "00074778" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "HD;SEQ" "DNA" "" ""
"0000074955" "00074779" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "HD;SEQ" "DNA" "" ""
"0000074956" "00074780" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "HD;SEQ" "DNA" "" ""
"0000074957" "00074781" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "HD;SEQ" "DNA" "" ""
"0000074958" "00074782" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "HD;SEQ" "DNA" "" ""
"0000074959" "00074783" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "HD;SEQ" "DNA" "" ""
"0000074960" "00074784" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "HD;SEQ" "DNA" "" ""
"0000074961" "00074785" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "HD;SEQ" "DNA" "" ""
"0000074962" "00074786" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "HD;SEQ" "DNA" "" ""
"0000074963" "00074787" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "HD;SEQ" "DNA" "" ""
"0000074964" "00074788" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "HD;SEQ" "DNA" "" ""
"0000074965" "00074789" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "HD;SEQ" "DNA" "" ""
"0000074966" "00074790" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "HD;SEQ" "DNA" "" ""
"0000074967" "00074791" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "HD;SEQ" "DNA" "" ""
"0000074968" "00074792" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "HD;SEQ" "DNA" "" ""
"0000074969" "00074793" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "HD;SEQ" "DNA" "" ""
"0000074970" "00074794" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "HD;SEQ" "DNA" "" ""
"0000074971" "00074795" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "HD;SEQ" "DNA" "" ""
"0000074972" "00074796" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "HD;SEQ" "DNA" "" ""
"0000074973" "00074797" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "HD;SEQ" "DNA" "" ""
"0000074974" "00074798" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "HD;SEQ" "DNA" "" ""
"0000074975" "00074799" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "HD;SEQ" "DNA" "" ""
"0000074976" "00074800" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "HD;SEQ" "DNA" "" ""
"0000074977" "00074801" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "HD;SEQ" "DNA" "" ""
"0000074978" "00074802" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "HD;SEQ" "DNA" "" ""
"0000074979" "00074803" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "HD;SEQ" "DNA" "" ""
"0000074980" "00074804" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "HD;SEQ" "DNA" "" ""
"0000074981" "00074805" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "HD;SEQ" "DNA" "" ""
"0000074982" "00074806" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "HD;SEQ" "DNA" "" ""
"0000074983" "00074807" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "HD;SEQ" "DNA" "" ""
"0000074984" "00074808" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "HD;SEQ" "DNA" "" ""
"0000074985" "00074809" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "HD;SEQ" "DNA" "" ""
"0000074986" "00074810" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "HD;SEQ" "DNA" "" ""
"0000074987" "00074811" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "HD;SEQ" "DNA" "" ""
"0000074988" "00074812" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "HD;SEQ" "DNA" "" ""
"0000074989" "00074813" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "HD;SEQ" "DNA" "" ""
"0000074990" "00074814" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "HD;SEQ" "DNA" "" ""
"0000074991" "00074815" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "HD;SEQ" "DNA" "" ""
"0000074992" "00074816" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "HD;SEQ" "DNA" "" ""
"0000074993" "00074817" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "HD;SEQ" "DNA" "" ""
"0000074994" "00074818" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "HD;SEQ" "DNA" "" ""
"0000074995" "00074819" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "HD;SEQ" "DNA" "" ""
"0000074996" "00074820" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "HD;SEQ" "DNA" "" ""
"0000074997" "00074821" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "HD;SEQ" "DNA" "" ""
"0000074998" "00074822" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "HD;SEQ" "DNA" "" ""
"0000074999" "00074823" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "HD;SEQ" "DNA" "" ""
"0000075000" "00074824" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075001" "00074825" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075002" "00074826" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075003" "00074827" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075004" "00074828" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075005" "00074829" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075006" "00074830" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075007" "00074831" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075008" "00074832" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075009" "00074833" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075010" "00074834" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075011" "00074835" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075012" "00074836" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075013" "00074837" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075014" "00074838" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075015" "00074839" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075016" "00074840" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075017" "00074841" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075018" "00074842" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075019" "00074843" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075020" "00074844" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075021" "00074845" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075022" "00074846" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075023" "00074847" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075024" "00074848" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075025" "00074849" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075026" "00074850" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075027" "00074851" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075028" "00074852" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075029" "00074853" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075030" "00074854" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075031" "00074855" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075032" "00074856" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075033" "00074857" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075034" "00074858" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075035" "00074859" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075036" "00074860" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075037" "00074861" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075038" "00074862" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075039" "00074863" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075040" "00074864" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075041" "00074865" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075042" "00074866" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075043" "00074867" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075044" "00074868" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075045" "00074869" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075046" "00074870" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075047" "00074871" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075048" "00074872" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075049" "00074873" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075050" "00074874" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075051" "00074875" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075052" "00074876" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075053" "00074877" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075054" "00074878" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075055" "00074879" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075056" "00074880" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075057" "00074881" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075058" "00074882" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075059" "00074883" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075060" "00074884" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075061" "00074885" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075062" "00074886" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075063" "00074887" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075064" "00074888" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075065" "00074889" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075066" "00074890" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075067" "00074891" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075068" "00074892" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075069" "00074893" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075070" "00074894" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075071" "00074895" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075072" "00074896" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075073" "00074897" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075074" "00074898" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075075" "00074899" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075076" "00074900" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075077" "00074901" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075078" "00074902" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075079" "00074903" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075080" "00074904" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075081" "00074905" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075082" "00074906" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075083" "00074907" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075084" "00074908" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075085" "00074909" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075086" "00074910" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075087" "00074911" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075088" "00074912" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075089" "00074913" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075090" "00074914" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075091" "00074915" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075092" "00074916" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075093" "00074917" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075094" "00074918" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075095" "00074919" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075096" "00074920" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075097" "00074921" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075098" "00074922" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075099" "00074923" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075100" "00074924" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075101" "00074925" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075102" "00074926" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075103" "00074927" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075104" "00074928" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075105" "00074929" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075106" "00074930" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075107" "00074931" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;HD;SEQ" "DNA" "" ""
"0000075108" "00074932" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;HD;SEQ" "DNA" "" ""
"0000075109" "00074933" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;HD;SEQ" "DNA" "" ""
"0000075110" "00074934" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;HD;SEQ" "DNA" "" ""
"0000075111" "00074935" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;HD;SEQ" "DNA" "" ""
"0000075112" "00074936" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;HD;SEQ" "DNA" "" ""
"0000075113" "00074937" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;HD;SEQ" "DNA" "" ""
"0000075114" "00074938" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;HD;SEQ" "DNA" "" ""
"0000075115" "00074939" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;HD;SEQ" "DNA" "" ""
"0000075116" "00074940" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;HD;SEQ" "DNA" "" ""
"0000075117" "00074941" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;HD;SEQ" "DNA" "" ""
"0000075118" "00074942" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;HD;SEQ" "DNA" "" ""
"0000075119" "00074943" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;HD;SEQ" "DNA" "" ""
"0000075120" "00074944" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;HD;SEQ" "DNA" "" ""
"0000075121" "00074945" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;HD;SEQ" "DNA" "" ""
"0000075122" "00074946" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;HD;SEQ" "DNA" "" ""
"0000075123" "00074947" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;HD;SEQ" "DNA" "" ""
"0000075124" "00074948" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;HD;SEQ" "DNA" "" ""
"0000075125" "00074949" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;HD;SEQ" "DNA" "" ""
"0000075126" "00074950" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;HD;SEQ" "DNA" "" ""
"0000075127" "00074951" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;HD;SEQ" "DNA" "" ""
"0000075128" "00074952" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;HD;SEQ" "DNA" "" ""
"0000075129" "00074953" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;HD;SEQ" "DNA" "" ""
"0000075130" "00074954" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;HD;SEQ" "DNA" "" ""
"0000075131" "00074955" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;HD;SEQ" "DNA" "" ""
"0000075132" "00074956" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;HD;SEQ" "DNA" "" ""
"0000075133" "00074957" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;HD;SEQ" "DNA" "" ""
"0000075134" "00074958" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;HD;SEQ" "DNA" "" ""
"0000075135" "00074959" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;HD;SEQ" "DNA" "" ""
"0000075136" "00074960" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;HD;SEQ" "DNA" "" ""
"0000075137" "00074961" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;HD;SEQ" "DNA" "" ""
"0000075138" "00074962" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;HD;SEQ" "DNA" "" ""
"0000075139" "00074963" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;HD;SEQ" "DNA" "" ""
"0000075140" "00074964" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;HD;SEQ" "DNA" "" ""
"0000075141" "00074965" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;HD;SEQ" "DNA" "" ""
"0000075142" "00074966" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;HD;SEQ" "DNA" "" ""
"0000075143" "00074967" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;HD;SEQ" "DNA" "" ""
"0000075144" "00074968" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;HD;SEQ" "DNA" "" ""
"0000075145" "00074969" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;HD;SEQ" "DNA" "" ""
"0000075146" "00074970" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;HD;SEQ" "DNA" "" ""
"0000075147" "00074971" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;HD;SEQ" "DNA" "" ""
"0000075148" "00074972" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;HD;SEQ" "DNA" "" ""
"0000075149" "00074973" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;HD;SEQ" "DNA" "" ""
"0000075150" "00074974" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;HD;SEQ" "DNA" "" ""
"0000075151" "00074975" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;HD;SEQ" "DNA" "" ""
"0000075152" "00074976" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;HD;SEQ" "DNA" "" ""
"0000075153" "00074977" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;HD;SEQ" "DNA" "" ""
"0000075154" "00074978" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;HD;SEQ" "DNA" "" ""
"0000075155" "00074979" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;HD;SEQ" "DNA" "" ""
"0000075156" "00074980" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;SEQ" "DNA" "" ""
"0000075157" "00074981" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;SEQ" "DNA" "" ""
"0000075158" "00074982" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG;PCR;SEQ" "DNA" "" ""
"0000075159" "00074983" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG;PCR;SEQ" "DNA" "" ""
"0000075160" "00074984" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG;PCR;SEQ" "DNA" "" ""
"0000075161" "00074985" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG;PCR;SEQ" "DNA" "" ""
"0000075162" "00074986" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG;PCR;SEQ" "DNA" "" ""
"0000075163" "00074987" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG;PCR;SEQ" "DNA" "" ""
"0000075164" "00074988" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG;PCR;SEQ" "DNA" "" ""
"0000075165" "00074989" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG;PCR;SEQ" "DNA" "" ""
"0000075166" "00074990" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG;PCR;SEQ" "DNA" "" ""
"0000075167" "00074991" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG;PCR;SEQ" "DNA" "" ""
"0000075168" "00074992" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG;PCR;SEQ" "DNA" "" ""
"0000075169" "00074993" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG;PCR;SEQ" "DNA" "" ""
"0000075170" "00074994" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG;PCR;SEQ" "DNA" "" ""
"0000075171" "00074995" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG;PCR;SEQ" "DNA" "" ""
"0000075172" "00074996" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG;PCR;SEQ" "DNA" "" ""
"0000075173" "00074997" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG;PCR;SEQ" "DNA" "" ""
"0000075174" "00074998" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG;PCR;SEQ" "DNA" "" ""
"0000075175" "00074999" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG;PCR;SEQ" "DNA" "" ""
"0000075176" "00075000" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG;PCR;SEQ" "DNA" "" ""
"0000075177" "00075001" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG;PCR;SEQ" "DNA" "" ""
"0000075178" "00075002" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG;PCR;SEQ" "DNA" "" ""
"0000075179" "00075003" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG;PCR;SEQ" "DNA" "" ""
"0000075180" "00075004" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG;PCR;SEQ" "DNA" "" ""
"0000075181" "00075005" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG;PCR;SEQ" "DNA" "" ""
"0000075182" "00075006" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG;PCR;SEQ" "DNA" "" ""
"0000075183" "00075007" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;HD;SEQ" "DNA" "" ""
"0000075184" "00075008" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;HD;SEQ" "DNA" "" ""
"0000075185" "00075009" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;PCR;SEQ" "DNA" "" ""
"0000075186" "00075010" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;PCR;SEQ" "DNA" "" ""
"0000075187" "00075011" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;PCR;SEQ" "DNA" "" ""
"0000075188" "00075012" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;PCR;SEQ" "DNA" "" ""
"0000075189" "00075013" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;PCR;SEQ" "DNA" "" ""
"0000075190" "00075014" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;PCR;SEQ" "DNA" "" ""
"0000075191" "00075015" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;PCR;SEQ" "DNA" "" ""
"0000075192" "00075016" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;PCR;SEQ" "DNA" "" ""
"0000075193" "00075017" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;PCR;SEQ" "DNA" "" ""
"0000075194" "00075018" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;PCR;SEQ" "DNA" "" ""
"0000075195" "00075019" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;PCR;SEQ" "DNA" "" ""
"0000075196" "00075020" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;PCR;SEQ" "DNA" "" ""
"0000075197" "00075021" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;PCR;SEQ" "DNA" "" ""
"0000075198" "00075022" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;PCR;SEQ" "DNA" "" ""
"0000075199" "00075023" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;PCR;SEQ" "DNA" "" ""
"0000075200" "00075024" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;PCR;SEQ" "DNA" "" ""
"0000075201" "00075025" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;PCR;SEQ" "DNA" "" ""
"0000075202" "00075026" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;PCR;SEQ" "DNA" "" ""
"0000075203" "00075027" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;PCR;SEQ" "DNA" "" ""
"0000075204" "00075028" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;PCR;SEQ" "DNA" "" ""
"0000075205" "00075029" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;PCR;SEQ" "DNA" "" ""
"0000075206" "00075030" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;PCR;SEQ" "DNA" "" ""
"0000075207" "00075031" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;PCR;SEQ" "DNA" "" ""
"0000075208" "00075032" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;PCR;SEQ" "DNA" "" ""
"0000075209" "00075033" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000075210" "00075034" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000075211" "00075035" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000075212" "00075036" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000075213" "00075037" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;PCR;SEQ" "DNA" "" ""
"0000075214" "00075038" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;PCR;SEQ" "DNA" "" ""
"0000075215" "00075039" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;PCR;SEQ" "DNA" "" ""
"0000075216" "00075040" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;PCR;SEQ" "DNA" "" ""
"0000075217" "00075041" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;PCR;SEQ" "DNA" "" ""
"0000075218" "00075042" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;PCR;SEQ" "DNA" "" ""
"0000075219" "00075043" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;PCR;SEQ" "DNA" "" ""
"0000075220" "00075044" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;PCR;SEQ" "DNA" "" ""
"0000075221" "00075045" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;PCR;SEQ" "DNA" "" ""
"0000075222" "00075046" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;PCR;SEQ" "DNA" "" ""
"0000075223" "00075047" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;PCR;SEQ" "DNA" "" ""
"0000075224" "00075048" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;PCR;SEQ" "DNA" "" ""
"0000075225" "00075049" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;PCR;SEQ" "DNA" "" ""
"0000075226" "00075050" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;PCR;SEQ" "DNA" "" ""
"0000075227" "00075051" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;PCR;SEQ" "DNA" "" ""
"0000075228" "00075052" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;PCR;SEQ" "DNA" "" ""
"0000075229" "00075053" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;PCR;SEQ" "DNA" "" ""
"0000075230" "00075054" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;PCR;SEQ" "DNA" "" ""
"0000075231" "00075055" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;PCR;SEQ" "DNA" "" ""
"0000075232" "00075056" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;PCR;SEQ" "DNA" "" ""
"0000075233" "00075057" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;PCR;SEQ" "DNA" "" ""
"0000075234" "00075058" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;PCR;SEQ" "DNA" "" ""
"0000075235" "00075059" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;PCR;SEQ" "DNA" "" ""
"0000075236" "00075060" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;PCR;SEQ" "DNA" "" ""
"0000075237" "00075061" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;PCR;SEQ" "DNA" "" ""
"0000075238" "00075062" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;HD" "DNA" "" ""
"0000075239" "00075063" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;HD" "DNA" "" ""
"0000075240" "00075064" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;HD" "DNA" "" ""
"0000075241" "00075065" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;HD" "DNA" "" ""
"0000075242" "00075066" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;HD" "DNA" "" ""
"0000075243" "00075067" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;HD" "DNA" "" ""
"0000075244" "00075068" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;HD" "DNA" "" ""
"0000075245" "00075069" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;HD" "DNA" "" ""
"0000075246" "00075070" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;HD" "DNA" "" ""
"0000075247" "00075071" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;HD" "DNA" "" ""
"0000075248" "00075072" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;HD" "DNA" "" ""
"0000075249" "00075073" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;HD" "DNA" "" ""
"0000075250" "00075074" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;HD" "DNA" "" ""
"0000075251" "00075075" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;HD" "DNA" "" ""
"0000075252" "00075076" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;HD" "DNA" "" ""
"0000075253" "00075077" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SSCA;SEQ" "DNA" "" "APEX"
"0000075254" "00075078" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SSCA;SEQ" "DNA" "" "APEX"
"0000075255" "00075079" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SSCA;SEQ" "DNA" "" "APEX"
"0000075256" "00075080" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SSCA;SEQ" "DNA" "" "APEX"
"0000075257" "00075081" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SSCA;SEQ" "DNA" "" "APEX"
"0000075258" "00075082" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SSCA;SEQ" "DNA" "" "APEX"
"0000075259" "00075083" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SSCA;SEQ" "DNA" "" "APEX"
"0000075260" "00075084" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SSCA;SEQ" "DNA" "" "APEX"
"0000075261" "00075085" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SSCA;SEQ" "DNA" "" "APEX"
"0000075262" "00075086" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SSCA;SEQ" "DNA" "" "APEX"
"0000075263" "00075087" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SSCA;SEQ" "DNA" "" "APEX"
"0000075264" "00075088" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SSCA;SEQ" "DNA" "" "APEX"
"0000075265" "00075089" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SSCA;SEQ" "DNA" "" "APEX"
"0000075266" "00075090" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SSCA;SEQ" "DNA" "" "APEX"
"0000075267" "00075091" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SSCA;SEQ" "DNA" "" "APEX"
"0000075268" "00075092" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SSCA;SEQ" "DNA" "" "APEX"
"0000075269" "00075093" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SSCA;SEQ" "DNA" "" "APEX"
"0000075270" "00075094" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SSCA;SEQ" "DNA" "" "APEX"
"0000075271" "00075095" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SSCA;SEQ" "DNA" "" "APEX"
"0000075272" "00075096" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SSCA;SEQ" "DNA" "" "APEX"
"0000075273" "00075097" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SSCA;SEQ" "DNA" "" "APEX"
"0000075274" "00075098" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SSCA;SEQ" "DNA" "" "APEX"
"0000075275" "00075099" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SSCA;SEQ" "DNA" "" "APEX"
"0000075276" "00075100" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SSCA;SEQ" "DNA" "" ""
"0000075277" "00075101" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SSCA;SEQ" "DNA" "" ""
"0000075278" "00075102" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SSCA;SEQ" "DNA" "" ""
"0000075279" "00075103" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SSCA;SEQ" "DNA" "" ""
"0000075280" "00075104" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SSCA;SEQ" "DNA" "" ""
"0000075281" "00075105" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SSCA;SEQ" "DNA" "" ""
"0000075282" "00075106" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SSCA;SEQ" "DNA" "" ""
"0000075283" "00075107" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SSCA;SEQ" "DNA" "" ""
"0000075284" "00075108" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SSCA;SEQ" "DNA" "" ""
"0000075285" "00075109" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SSCA;SEQ" "DNA" "" ""
"0000075286" "00075110" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SSCA;SEQ" "DNA" "" ""
"0000075287" "00075111" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SSCA;SEQ" "DNA" "" ""
"0000075288" "00075112" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SSCA;SEQ" "DNA" "" ""
"0000075289" "00075113" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SSCA;SEQ" "DNA" "" ""
"0000075290" "00075114" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SSCA;SEQ" "DNA" "" ""
"0000075291" "00075115" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SSCA;SEQ" "DNA" "" ""
"0000075292" "00075116" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;PCR;SEQ" "DNA" "" ""
"0000075293" "00075117" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;PCR;SEQ" "DNA" "" ""
"0000075294" "00075118" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;PCR;SEQ" "DNA" "" ""
"0000075295" "00075119" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;PCR;SEQ" "DNA" "" ""
"0000075296" "00075120" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;PCR;SEQ" "DNA" "" ""
"0000075297" "00075121" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;PCR;SEQ" "DNA" "" ""
"0000075298" "00075122" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;PCR;SEQ" "DNA" "" ""
"0000075299" "00075123" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;PCR;SEQ" "DNA" "" ""
"0000075300" "00075124" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;PCR;SEQ" "DNA" "" ""
"0000075301" "00075125" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;PCR;SEQ" "DNA" "" ""
"0000075302" "00075126" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;PCR;SEQ" "DNA" "" ""
"0000075303" "00075127" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;PCR;SEQ" "DNA" "" ""
"0000075304" "00075128" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;PCR;SEQ" "DNA" "" ""
"0000075305" "00075129" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;PCR;SEQ" "DNA" "" ""
"0000075306" "00075130" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;PCR;SEQ" "DNA" "" ""
"0000075307" "00075131" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;PCR;SEQ" "DNA" "" ""
"0000075308" "00075132" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;PCR;SEQ" "DNA" "" ""
"0000075309" "00075133" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;PCR;SEQ" "DNA" "" ""
"0000075310" "00075134" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;PCR;SEQ" "DNA" "" ""
"0000075311" "00075135" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;PCR;SEQ" "DNA" "" ""
"0000075312" "00075136" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;PCR;SEQ" "DNA" "" ""
"0000075313" "00075137" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;PCR;SEQ" "DNA" "" ""
"0000075314" "00075138" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;PCR;SEQ" "DNA" "" ""
"0000075315" "00075139" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;PCR;SEQ" "DNA" "" ""
"0000075316" "00075140" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;PCR;SEQ" "DNA" "" ""
"0000075317" "00075141" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;PCR;SEQ" "DNA" "" ""
"0000075318" "00075142" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;PCR;SEQ" "DNA" "" ""
"0000075319" "00075143" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;PCR;SEQ" "DNA" "" ""
"0000075320" "00075144" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;PCR;SEQ" "DNA" "" ""
"0000075321" "00075145" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075322" "00075146" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;HD;SEQ" "DNA" "" ""
"0000075323" "00075147" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;HD;SEQ" "DNA" "" ""
"0000075324" "00075148" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;HD;SEQ" "DNA" "" ""
"0000075325" "00075149" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "Southern;PCR;SEQ" "DNA" "" ""
"0000075326" "00075150" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;HD;SEQ" "DNA" "" ""
"0000075327" "00075151" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000075328" "00075152" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000075329" "00075153" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075330" "00075154" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075331" "00075155" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "DGGE;DHPLC;SSCA;PCR;SEQ" "DNA" "" ""
"0000075332" "00075156" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "DGGE;DHPLC;SSCA;PCR;SEQ" "DNA" "" ""
"0000075333" "00075157" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "DGGE;DHPLC;SSCA;PCR;SEQ" "DNA" "" ""
"0000075334" "00075158" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "DGGE;DHPLC;SSCA;PCR;SEQ" "DNA" "" ""
"0000075335" "00075159" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "DGGE;DHPLC;SSCA;PCR;SEQ" "DNA" "" ""
"0000075336" "00075160" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "DGGE;DHPLC;SSCA;PCR;SEQ" "DNA" "" ""
"0000075337" "00075161" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "DGGE;DHPLC;SSCA;PCR;SEQ" "DNA" "" ""
"0000075338" "00075162" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "DGGE;DHPLC;SSCA;PCR;SEQ" "DNA" "" ""
"0000075339" "00075163" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "DGGE;DHPLC;SSCA;PCR;SEQ" "DNA" "" ""
"0000075340" "00075164" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "DGGE;DHPLC;SSCA;PCR;SEQ" "DNA" "" ""
"0000075341" "00075165" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "DGGE;DHPLC;SSCA;PCR;SEQ" "DNA" "" ""
"0000075342" "00075166" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "DGGE;DHPLC;SSCA;PCR;SEQ" "DNA" "" ""
"0000075343" "00075167" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "DGGE;DHPLC;SSCA;PCR;SEQ" "DNA" "" ""
"0000075344" "00075168" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "DGGE;DHPLC;SSCA;PCR;SEQ" "DNA" "" ""
"0000075345" "00075169" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "DGGE;DHPLC;SSCA;PCR;SEQ" "DNA" "" ""
"0000075346" "00075170" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "DGGE;DHPLC;SSCA;PCR;SEQ" "DNA" "" ""
"0000075347" "00075171" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "DGGE;DHPLC;SSCA;PCR;SEQ" "DNA" "" ""
"0000075348" "00075172" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "DGGE;DHPLC;SSCA;PCR;SEQ" "DNA" "" ""
"0000075349" "00075173" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "DGGE;DHPLC;SSCA;PCR;SEQ" "DNA" "" ""
"0000075350" "00075174" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "DGGE;DHPLC;SSCA;PCR;SEQ" "DNA" "" ""
"0000075351" "00075175" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "DGGE;DHPLC;SSCA;PCR;SEQ" "DNA" "" ""
"0000075352" "00075176" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "DGGE;DHPLC;SSCA;PCR;SEQ" "DNA" "" ""
"0000075353" "00075177" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "DGGE;DHPLC;SSCA;PCR;SEQ" "DNA" "" ""
"0000075354" "00075178" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "DGGE;DHPLC;SSCA;PCR;SEQ" "DNA" "" ""
"0000075355" "00075179" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "DGGE;DHPLC;SSCA;PCR;SEQ" "DNA" "" ""
"0000075356" "00075180" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "DGGE;DHPLC;SSCA;PCR;SEQ" "DNA" "" ""
"0000075357" "00075181" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "DGGE;DHPLC;SSCA;PCR;SEQ" "DNA" "" ""
"0000075358" "00075182" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "DGGE;DHPLC;SSCA;PCR;SEQ" "DNA" "" ""
"0000075359" "00075183" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "DGGE;DHPLC;SSCA;PCR;SEQ" "DNA" "" ""
"0000075360" "00075184" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "DGGE;DHPLC;SSCA;PCR;SEQ" "DNA" "" ""
"0000075361" "00075185" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "DGGE;DHPLC;SSCA;PCR;SEQ" "DNA" "" ""
"0000075362" "00075186" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "DGGE;DHPLC;SSCA;PCR;SEQ" "DNA" "" ""
"0000075363" "00075187" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "DGGE;DHPLC;SSCA;PCR;SEQ" "DNA" "" ""
"0000075364" "00075188" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "DGGE;DHPLC;SSCA;PCR;SEQ" "DNA" "" ""
"0000075365" "00075189" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "DGGE;DHPLC;SSCA;PCR;SEQ" "DNA" "" ""
"0000075366" "00075190" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "DGGE;DHPLC;SSCA;PCR;SEQ" "DNA" "" ""
"0000075367" "00075191" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "DGGE;DHPLC;SSCA;PCR;SEQ" "DNA" "" ""
"0000075368" "00075192" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "DGGE;DHPLC;SSCA;PCR;SEQ" "DNA" "" ""
"0000075369" "00075193" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "DGGE;DHPLC;SSCA;PCR;SEQ" "DNA" "" ""
"0000075370" "00075194" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "DGGE;DHPLC;SSCA;PCR;SEQ" "DNA" "" ""
"0000075371" "00075195" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "DGGE;DHPLC;SSCA;PCR;SEQ" "DNA" "" ""
"0000075372" "00075196" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "DGGE;DHPLC;SSCA;PCR;SEQ" "DNA" "" ""
"0000075373" "00075197" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "DGGE;DHPLC;SSCA;PCR;SEQ" "DNA" "" ""
"0000075374" "00075198" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "DGGE;DHPLC;SSCA;PCR;SEQ" "DNA" "" ""
"0000075375" "00075199" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "DGGE;DHPLC;SSCA;PCR;SEQ" "DNA" "" ""
"0000075376" "00075200" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "DGGE;DHPLC;SSCA;PCR;SEQ" "DNA" "" ""
"0000075377" "00075201" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "DGGE;DHPLC;SSCA;PCR;SEQ" "DNA" "" ""
"0000075378" "00075202" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "DGGE;DHPLC;SSCA;PCR;SEQ" "DNA" "" ""
"0000075379" "00075203" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "DGGE;DHPLC;SSCA;PCR;SEQ" "DNA" "" ""
"0000075380" "00075204" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "DGGE;DHPLC;SSCA;PCR;SEQ" "DNA" "" ""
"0000075381" "00075205" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "DGGE;DHPLC;SSCA;PCR;SEQ" "DNA" "" ""
"0000075382" "00075206" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "DGGE;DHPLC;SSCA;PCR;SEQ" "DNA" "" ""
"0000075383" "00075207" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "DGGE;DHPLC;SSCA;PCR;SEQ" "DNA" "" ""
"0000075384" "00075208" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "DGGE;DHPLC;SSCA;PCR;SEQ" "DNA" "" ""
"0000075385" "00075209" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "DGGE;DHPLC;SSCA;PCR;SEQ" "DNA" "" ""
"0000075386" "00075210" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "DGGE;DHPLC;SSCA;PCR;SEQ" "DNA" "" ""
"0000075387" "00075211" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "DGGE;DHPLC;SSCA;PCR;SEQ" "DNA" "" ""
"0000075388" "00075212" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "DGGE;DHPLC;SSCA;PCR;SEQ" "DNA" "" ""
"0000075389" "00075213" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "DGGE;DHPLC;SSCA;PCR;SEQ" "DNA" "" ""
"0000075390" "00075214" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "DGGE;DHPLC;SSCA;PCR;SEQ" "DNA" "" ""
"0000075391" "00075215" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "DGGE;DHPLC;SSCA;PCR;SEQ" "DNA" "" ""
"0000075392" "00075216" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "DGGE;DHPLC;SSCA;PCR;SEQ" "DNA" "" ""
"0000075393" "00075217" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "DGGE;DHPLC;SSCA;PCR;SEQ" "DNA" "" ""
"0000075394" "00075218" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "DGGE;DHPLC;SSCA;PCR;SEQ" "DNA" "" ""
"0000075395" "00075219" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "DGGE;DHPLC;SSCA;PCR;SEQ" "DNA" "" ""
"0000075396" "00075220" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "DGGE;DHPLC;SSCA;PCR;SEQ" "DNA" "" ""
"0000075397" "00075221" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "DGGE;DHPLC;SSCA;PCR;SEQ" "DNA" "" ""
"0000075398" "00075222" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "DGGE;DHPLC;SSCA;PCR;SEQ" "DNA" "" ""
"0000075399" "00075223" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "DGGE;DHPLC;SSCA;PCR;SEQ" "DNA" "" ""
"0000075400" "00075224" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "DGGE;DHPLC;SSCA;PCR;SEQ" "DNA" "" ""
"0000075401" "00075225" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "DGGE;DHPLC;SSCA;PCR;SEQ" "DNA" "" ""
"0000075402" "00075226" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "DGGE;DHPLC;SSCA;PCR;SEQ" "DNA" "" ""
"0000075403" "00075227" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "DGGE;DHPLC;SSCA;PCR;SEQ" "DNA" "" ""
"0000075404" "00075228" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "DGGE;DHPLC;SSCA;PCR;SEQ" "DNA" "" ""
"0000075405" "00075229" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "DGGE;DHPLC;SSCA;PCR;SEQ" "DNA" "" ""
"0000075406" "00075230" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "DGGE;DHPLC;SSCA;PCR;SEQ" "DNA" "" ""
"0000075407" "00075231" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "DGGE;DHPLC;SSCA;PCR;SEQ" "DNA" "" ""
"0000075408" "00075232" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "DGGE;DHPLC;SSCA;PCR;SEQ" "DNA" "" ""
"0000075409" "00075233" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "DGGE;DHPLC;SSCA;PCR;SEQ" "DNA" "" ""
"0000075410" "00075234" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "DGGE;DHPLC;SSCA;PCR;SEQ" "DNA" "" ""
"0000075411" "00075235" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "DGGE;DHPLC;SSCA;PCR;SEQ" "DNA" "" ""
"0000075412" "00075236" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "DGGE;DHPLC;SSCA;PCR;SEQ" "DNA" "" ""
"0000075413" "00075237" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "DGGE;DHPLC;SSCA;PCR;SEQ" "DNA" "" ""
"0000075414" "00075238" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "DGGE;DHPLC;SSCA;PCR;SEQ" "DNA" "" ""
"0000075415" "00075239" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "DGGE;DHPLC;SSCA;PCR;SEQ" "DNA" "" ""
"0000075416" "00075240" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "DGGE;DHPLC;SSCA;PCR;SEQ" "DNA" "" ""
"0000075417" "00075241" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "DGGE;DHPLC;SSCA;PCR;SEQ" "DNA" "" ""
"0000075418" "00075242" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "DGGE;DHPLC;SSCA;PCR;SEQ" "DNA" "" ""
"0000075419" "00075243" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "DGGE;DHPLC;SSCA;PCR;SEQ" "DNA" "" ""
"0000075420" "00075244" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "DGGE;DHPLC;SSCA;PCR;SEQ" "DNA" "" ""
"0000075421" "00075245" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "DGGE;DHPLC;SSCA;PCR;SEQ" "DNA" "" ""
"0000075422" "00075246" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "DGGE;DHPLC;SSCA;PCR;SEQ" "DNA" "" ""
"0000075423" "00075247" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "DGGE;DHPLC;SSCA;PCR;SEQ" "DNA" "" ""
"0000075424" "00075248" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "DGGE;DHPLC;SSCA;PCR;SEQ" "DNA" "" ""
"0000075425" "00075249" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "DGGE;DHPLC;SSCA;PCR;SEQ" "DNA" "" ""
"0000075426" "00075250" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "DGGE;DHPLC;SSCA;PCR;SEQ" "DNA" "" ""
"0000075427" "00075251" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "DGGE;DHPLC;SSCA;PCR;SEQ" "DNA" "" ""
"0000075428" "00075252" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "DGGE;DHPLC;SSCA;PCR;SEQ" "DNA" "" ""
"0000075429" "00075253" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "DGGE;DHPLC;SSCA;PCR;SEQ" "DNA" "" ""
"0000075430" "00075254" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "DGGE;DHPLC;SSCA;PCR;SEQ" "DNA" "" ""
"0000075431" "00075255" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "DGGE;DHPLC;SSCA;PCR;SEQ" "DNA" "" ""
"0000075432" "00075256" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000075433" "00075257" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000075434" "00075258" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000075435" "00075259" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000075436" "00075260" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000075437" "00075261" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000075438" "00075262" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000075439" "00075263" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000075440" "00075264" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000075441" "00075265" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000075442" "00075266" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000075443" "00075267" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000075444" "00075268" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000075445" "00075269" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000075446" "00075270" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000075447" "00075271" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000075448" "00075272" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000075449" "00075273" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000075450" "00075274" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000075451" "00075275" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000075452" "00075276" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000075453" "00075277" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000075454" "00075278" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000075455" "00075279" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000075456" "00075280" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000075457" "00075281" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000075458" "00075282" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000075459" "00075283" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000075460" "00075284" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000075461" "00075285" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000075462" "00075286" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000075463" "00075287" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000075464" "00075288" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000075465" "00075289" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000075466" "00075290" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000075467" "00075291" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075468" "00075292" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075469" "00075293" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075470" "00075294" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075471" "00075295" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075472" "00075296" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075473" "00075297" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075474" "00075298" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075475" "00075299" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075476" "00075300" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075477" "00075301" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075478" "00075302" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075479" "00075303" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075480" "00075304" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075481" "00075305" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075482" "00075306" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075483" "00075307" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075484" "00075308" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075485" "00075309" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075486" "00075310" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075487" "00075311" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075488" "00075312" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075489" "00075313" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075490" "00075314" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075491" "00075315" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075492" "00075316" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075493" "00075317" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075494" "00075318" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075495" "00075319" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075496" "00075320" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075497" "00075321" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075498" "00075322" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075499" "00075323" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075500" "00075324" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075501" "00075325" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075502" "00075326" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075503" "00075327" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075504" "00075328" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075505" "00075329" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075506" "00075330" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075507" "00075331" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075508" "00075332" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075509" "00075333" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075510" "00075334" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075511" "00075335" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075512" "00075336" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075513" "00075337" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075514" "00075338" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075515" "00075339" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075516" "00075340" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075517" "00075341" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075518" "00075342" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075519" "00075343" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075520" "00075344" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075521" "00075345" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075522" "00075346" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075523" "00075347" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075524" "00075348" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075525" "00075349" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075526" "00075350" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075527" "00075351" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075528" "00075352" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075529" "00075353" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075530" "00075354" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075531" "00075355" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075532" "00075356" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075533" "00075357" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075534" "00075358" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075535" "00075359" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075536" "00075360" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075537" "00075361" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075538" "00075362" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075539" "00075363" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075540" "00075364" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075541" "00075365" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075542" "00075366" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075543" "00075367" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075544" "00075368" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075545" "00075369" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075546" "00075370" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075547" "00075371" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075548" "00075372" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075549" "00075373" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075550" "00075374" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075551" "00075375" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075552" "00075376" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075553" "00075377" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075554" "00075378" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075555" "00075379" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075556" "00075380" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075557" "00075381" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075558" "00075382" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075559" "00075383" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075560" "00075384" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075561" "00075385" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075562" "00075386" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075563" "00075387" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075564" "00075388" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075565" "00075389" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075566" "00075390" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075567" "00075391" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075568" "00075392" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075569" "00075393" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075570" "00075394" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075571" "00075395" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075572" "00075396" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075573" "00075397" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075574" "00075398" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075575" "00075399" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075576" "00075400" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075577" "00075401" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075578" "00075402" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075579" "00075403" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075580" "00075404" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075581" "00075405" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075582" "00075406" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075583" "00075407" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075584" "00075408" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075585" "00075409" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075586" "00075410" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075587" "00075411" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075588" "00075412" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075589" "00075413" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075590" "00075414" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075591" "00075415" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075592" "00075416" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075593" "00075417" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075594" "00075418" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075595" "00075419" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075596" "00075420" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075597" "00075421" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075598" "00075422" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075599" "00075423" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075600" "00075424" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075601" "00075425" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075602" "00075426" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075603" "00075427" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075604" "00075428" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075605" "00075429" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075606" "00075430" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075607" "00075431" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075608" "00075432" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075609" "00075433" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075610" "00075434" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075611" "00075435" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075612" "00075436" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075613" "00075437" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075614" "00075438" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075615" "00075439" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075616" "00075440" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075617" "00075441" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075618" "00075442" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075619" "00075443" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075620" "00075444" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075621" "00075445" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075622" "00075446" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075623" "00075447" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075624" "00075448" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075625" "00075449" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075626" "00075450" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075627" "00075451" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075628" "00075452" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075629" "00075453" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075630" "00075454" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075631" "00075455" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075632" "00075456" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075633" "00075457" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075634" "00075458" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075635" "00075459" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075636" "00075460" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075637" "00075461" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075638" "00075462" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075639" "00075463" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075640" "00075464" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075641" "00075465" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075642" "00075466" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075643" "00075467" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075644" "00075468" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075645" "00075469" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075646" "00075470" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075647" "00075471" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075648" "00075472" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075649" "00075473" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075650" "00075474" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075651" "00075475" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075652" "00075476" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075653" "00075477" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075654" "00075478" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075655" "00075479" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075656" "00075480" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075657" "00075481" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075658" "00075482" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075659" "00075483" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075660" "00075484" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075661" "00075485" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075662" "00075486" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075663" "00075487" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075664" "00075488" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075665" "00075489" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075666" "00075490" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075667" "00075491" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075668" "00075492" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075669" "00075493" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075670" "00075494" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075671" "00075495" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075672" "00075496" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075673" "00075497" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075674" "00075498" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075675" "00075499" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075676" "00075500" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075677" "00075501" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075678" "00075502" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075679" "00075503" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075680" "00075504" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075681" "00075505" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075682" "00075506" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075683" "00075507" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075684" "00075508" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075685" "00075509" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075686" "00075510" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075687" "00075511" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075688" "00075512" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075689" "00075513" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075690" "00075514" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075691" "00075515" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075692" "00075516" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075693" "00075517" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075694" "00075518" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075695" "00075519" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075696" "00075520" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075697" "00075521" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075698" "00075522" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075699" "00075523" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075700" "00075524" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075701" "00075525" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075702" "00075526" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075703" "00075527" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075704" "00075528" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075705" "00075529" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075706" "00075530" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075707" "00075531" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075708" "00075532" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075709" "00075533" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075710" "00075534" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075711" "00075535" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075712" "00075536" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075713" "00075537" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075714" "00075538" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075715" "00075539" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075716" "00075540" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075717" "00075541" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075718" "00075542" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075719" "00075543" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075720" "00075544" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075721" "00075545" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075722" "00075546" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075723" "00075547" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075724" "00075548" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075725" "00075549" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075726" "00075550" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075727" "00075551" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075728" "00075552" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075729" "00075553" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075730" "00075554" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075731" "00075555" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075732" "00075556" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075733" "00075557" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075734" "00075558" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075735" "00075559" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075736" "00075560" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075737" "00075561" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075738" "00075562" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075739" "00075563" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075740" "00075564" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075741" "00075565" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075742" "00075566" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075743" "00075567" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075744" "00075568" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075745" "00075569" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075746" "00075570" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075747" "00075571" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075748" "00075572" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075749" "00075573" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075750" "00075574" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075751" "00075575" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075752" "00075576" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075753" "00075577" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075754" "00075578" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075755" "00075579" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075756" "00075580" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075757" "00075581" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075758" "00075582" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075759" "00075583" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075760" "00075584" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075761" "00075585" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075762" "00075586" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075763" "00075587" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075764" "00075588" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075765" "00075589" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075766" "00075590" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075767" "00075591" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075768" "00075592" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075769" "00075593" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075770" "00075594" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075771" "00075595" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075772" "00075596" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075773" "00075597" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075774" "00075598" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075775" "00075599" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075776" "00075600" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075777" "00075601" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075778" "00075602" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075779" "00075603" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075780" "00075604" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075781" "00075605" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075782" "00075606" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075783" "00075607" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075784" "00075608" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075785" "00075609" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075786" "00075610" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075787" "00075611" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075788" "00075612" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075789" "00075613" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075790" "00075614" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075791" "00075615" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075792" "00075616" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075793" "00075617" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075794" "00075618" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075795" "00075619" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075796" "00075620" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075797" "00075621" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075798" "00075622" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075799" "00075623" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075800" "00075624" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075801" "00075625" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075802" "00075626" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075803" "00075627" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075804" "00075628" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075805" "00075629" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075806" "00075630" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075807" "00075631" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075808" "00075632" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075809" "00075633" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075810" "00075634" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075811" "00075635" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075812" "00075636" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075813" "00075637" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075814" "00075638" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075815" "00075639" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075816" "00075640" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075817" "00075641" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075818" "00075642" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075819" "00075643" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075820" "00075644" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075821" "00075645" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075822" "00075646" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075823" "00075647" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075824" "00075648" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075825" "00075649" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075826" "00075650" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075827" "00075651" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075828" "00075652" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075829" "00075653" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075830" "00075654" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075831" "00075655" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075832" "00075656" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075833" "00075657" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075834" "00075658" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075835" "00075659" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075836" "00075660" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075837" "00075661" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075838" "00075662" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075839" "00075663" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075840" "00075664" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075841" "00075665" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075842" "00075666" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075843" "00075667" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075844" "00075668" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075845" "00075669" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075846" "00075670" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075847" "00075671" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075848" "00075672" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075849" "00075673" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075850" "00075674" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075851" "00075675" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075852" "00075676" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075853" "00075677" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075854" "00075678" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075855" "00075679" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075856" "00075680" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075857" "00075681" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075858" "00075682" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075859" "00075683" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075860" "00075684" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075861" "00075685" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075862" "00075686" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075863" "00075687" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075864" "00075688" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075865" "00075689" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075866" "00075690" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075867" "00075691" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075868" "00075692" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075869" "00075693" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075870" "00075694" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075871" "00075695" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075872" "00075696" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075873" "00075697" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075874" "00075698" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075875" "00075699" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075876" "00075700" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075877" "00075701" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075878" "00075702" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075879" "00075703" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075880" "00075704" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075881" "00075705" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075882" "00075706" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000075883" "00075707" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000075884" "00075708" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000075885" "00075709" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;DGGE;SEQ" "DNA" "" ""
"0000075886" "00075710" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;DGGE;SEQ" "DNA" "" ""
"0000075887" "00075711" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;DGGE;SEQ" "DNA" "" ""
"0000075888" "00075712" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;DGGE;SEQ" "DNA" "" ""
"0000075889" "00075713" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;DGGE;SEQ" "DNA" "" ""
"0000075890" "00075714" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;DGGE;SEQ" "DNA" "" ""
"0000075891" "00075715" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;DGGE;SEQ" "DNA" "" ""
"0000075892" "00075716" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;DGGE;SEQ" "DNA" "" ""
"0000075893" "00075717" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;DGGE;SEQ" "DNA" "" ""
"0000075894" "00075718" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;DGGE;SEQ" "DNA" "" ""
"0000075895" "00075719" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;DGGE;SEQ" "DNA" "" ""
"0000075896" "00075720" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;DGGE;SEQ" "DNA" "" ""
"0000075897" "00075721" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;DGGE;SEQ" "DNA" "" ""
"0000075898" "00075722" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;DGGE;SEQ" "DNA" "" ""
"0000075899" "00075723" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;DGGE;SEQ" "DNA" "" ""
"0000075900" "00075724" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;DGGE;SEQ" "DNA" "" ""
"0000075901" "00075725" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;DGGE;SEQ" "DNA" "" ""
"0000075902" "00075726" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;DGGE;SEQ" "DNA" "" ""
"0000075903" "00075727" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;DGGE;SEQ" "DNA" "" ""
"0000075904" "00075728" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;DGGE;SEQ" "DNA" "" ""
"0000075905" "00075729" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;DGGE;SEQ" "DNA" "" ""
"0000075906" "00075730" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;DGGE;SEQ" "DNA" "" ""
"0000075907" "00075731" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;DGGE;SEQ" "DNA" "" ""
"0000075908" "00075732" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;DGGE;SEQ" "DNA" "" ""
"0000075909" "00075733" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;DGGE;SEQ" "DNA" "" ""
"0000075910" "00075734" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;DGGE;SEQ" "DNA" "" ""
"0000075911" "00075735" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;DGGE;SEQ" "DNA" "" ""
"0000075912" "00075736" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;DGGE;SEQ" "DNA" "" ""
"0000075913" "00075737" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;DGGE;SEQ" "DNA" "" ""
"0000075914" "00075738" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;DGGE;SEQ" "DNA" "" ""
"0000075915" "00075739" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;DGGE;SEQ" "DNA" "" ""
"0000075916" "00075740" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;DGGE;SEQ" "DNA" "" ""
"0000075917" "00075741" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;DGGE;SEQ" "DNA" "" ""
"0000075918" "00075742" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;DGGE;SEQ" "DNA" "" ""
"0000075919" "00075743" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;DGGE;SEQ" "DNA" "" ""
"0000075920" "00075744" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;DGGE;SEQ" "DNA" "" ""
"0000075921" "00075745" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;DGGE;SEQ" "DNA" "" ""
"0000075922" "00075746" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;DGGE;SEQ" "DNA" "" ""
"0000075923" "00075747" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;DGGE;SEQ" "DNA" "" ""
"0000075924" "00075748" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;DGGE;SEQ" "DNA" "" ""
"0000075925" "00075749" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;DGGE;SEQ" "DNA" "" ""
"0000075926" "00075750" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000075927" "00075751" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000075928" "00075752" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000075929" "00075753" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000075930" "00075754" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000075931" "00075755" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000075932" "00075756" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000075933" "00075757" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000075934" "00075758" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000075935" "00075759" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000075936" "00075760" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000075937" "00075761" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000075938" "00075762" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000075939" "00075763" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000075940" "00075764" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000075941" "00075765" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000075942" "00075766" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000075943" "00075767" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000075944" "00075768" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000075945" "00075769" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000075946" "00075770" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000075947" "00075771" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000075948" "00075772" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000075949" "00075773" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000075950" "00075774" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000075951" "00075775" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000075952" "00075776" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000075953" "00075777" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000075954" "00075778" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000075955" "00075779" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000075956" "00075780" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000075957" "00075781" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000075958" "00075782" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000075959" "00075783" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000075960" "00075784" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000075961" "00075785" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000075962" "00075786" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000075963" "00075787" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000075964" "00075788" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000075965" "00075789" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000075966" "00075790" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000075967" "00075791" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000075968" "00075792" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000075969" "00075793" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075970" "00075794" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075971" "00075795" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075972" "00075796" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075973" "00075797" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075974" "00075798" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075975" "00075799" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075976" "00075800" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075977" "00075801" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075978" "00075802" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075979" "00075803" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075980" "00075804" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000075981" "00075805" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "DGGE;DHPLC;SSCA" "DNA" "" ""
"0000075982" "00075806" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "DGGE;DHPLC;SSCA" "DNA" "" ""
"0000075983" "00075807" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "DGGE;DHPLC;SSCA" "DNA" "" ""
"0000075984" "00075808" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;PCR;SEQ" "DNA" "" ""
"0000075985" "00075809" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;PCR;SEQ" "DNA" "" ""
"0000075986" "00075810" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;PCR;SEQ" "DNA" "" ""
"0000075987" "00075811" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;PCR;SEQ" "DNA" "" ""
"0000075988" "00075812" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;PCR;SEQ" "DNA" "" ""
"0000075989" "00075813" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;PCR;SEQ" "DNA" "" ""
"0000075990" "00075814" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;PCR;SEQ" "DNA" "" ""
"0000075991" "00075815" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;PCR;SEQ" "DNA" "" ""
"0000075992" "00075816" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;PCR;SEQ" "DNA" "" ""
"0000075993" "00075817" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ;PCRdig" "DNA" "" ""
"0000075994" "00075818" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ;PCRdig" "DNA" "" ""
"0000075995" "00075819" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ;PCRdig" "DNA" "" ""
"0000075996" "00075820" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ;PCRdig" "DNA" "" ""
"0000075997" "00075821" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ;PCRdig" "DNA" "" ""
"0000075998" "00075822" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ;PCRdig" "DNA" "" ""
"0000075999" "00075823" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ;PCRdig" "DNA" "" ""
"0000076000" "00075824" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ;PCRdig" "DNA" "" ""
"0000076001" "00075825" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ;PCRdig" "DNA" "" ""
"0000076002" "00075826" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000076003" "00075827" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000076004" "00075828" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000076005" "00075829" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000076006" "00075830" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000076007" "00075831" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000076008" "00075832" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000076009" "00075833" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000076010" "00075834" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000076011" "00075835" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000076012" "00075836" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000076013" "00075837" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000076014" "00075838" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000076015" "00075839" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;CSGE;SEQ" "DNA" "" ""
"0000076016" "00075840" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;CSGE;SEQ" "DNA" "" ""
"0000076017" "00075841" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;CSGE;SEQ" "DNA" "" ""
"0000076018" "00075842" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;CSGE;SEQ" "DNA" "" ""
"0000076019" "00075843" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "Southern;PCR;SEQ" "DNA" "" ""
"0000076020" "00075844" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SSCA;SEQ" "DNA" "" ""
"0000076021" "00075845" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SSCA;SEQ" "DNA" "" ""
"0000076022" "00075846" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SSCA;SEQ" "DNA" "" ""
"0000076023" "00075847" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SSCA;SEQ" "DNA" "" ""
"0000076024" "00075848" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SSCA;SEQ" "DNA" "" ""
"0000076025" "00075849" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SSCA;SEQ" "DNA" "" ""
"0000076026" "00075850" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SSCA;SEQ" "DNA" "" ""
"0000076027" "00075851" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SSCA;SEQ" "DNA" "" ""
"0000076028" "00075852" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SSCA;SEQ" "DNA" "" ""
"0000076029" "00075853" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SSCA;SEQ" "DNA" "" ""
"0000076030" "00075854" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SSCA;SEQ" "DNA" "" ""
"0000076031" "00075855" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SSCA;SEQ" "DNA" "" ""
"0000076032" "00075856" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SSCA;SEQ" "DNA" "" ""
"0000076033" "00075857" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SSCA;SEQ" "DNA" "" ""
"0000076034" "00075858" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SSCA;SEQ" "DNA" "" ""
"0000076035" "00075859" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SSCA;SEQ" "DNA" "" ""
"0000076036" "00075860" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;SEQ" "DNA" "" "APEX"
"0000076037" "00075861" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;SEQ" "DNA" "" "APEX"
"0000076038" "00075862" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;SEQ" "DNA" "" "APEX"
"0000076039" "00075863" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;SEQ" "DNA" "" "APEX"
"0000076040" "00075864" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;SEQ" "DNA" "" "APEX"
"0000076041" "00075865" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;SEQ" "DNA" "" "APEX"
"0000076042" "00075866" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;SEQ" "DNA" "" "APEX"
"0000076043" "00075867" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;SEQ" "DNA" "" "APEX"
"0000076044" "00075868" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;SEQ" "DNA" "" "APEX"
"0000076045" "00075869" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;SEQ" "DNA" "" "APEX"
"0000076046" "00075870" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;SEQ" "DNA" "" "APEX"
"0000076047" "00075871" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;SEQ" "DNA" "" "APEX"
"0000076048" "00075872" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;SEQ" "DNA" "" "APEX"
"0000076049" "00075873" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;SEQ" "DNA" "" "APEX"
"0000076050" "00075874" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;SEQ" "DNA" "" "APEX"
"0000076051" "00075875" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;SEQ" "DNA" "" "APEX"
"0000076052" "00075876" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;SEQ" "DNA" "" "APEX"
"0000076053" "00075877" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;SEQ" "DNA" "" "APEX"
"0000076054" "00075878" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;SEQ" "DNA" "" "APEX"
"0000076055" "00075879" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;SEQ" "DNA" "" "APEX"
"0000076056" "00075880" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;SEQ" "DNA" "" "APEX"
"0000076057" "00075881" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;SEQ" "DNA" "" "APEX"
"0000076058" "00075882" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;SEQ" "DNA" "" "APEX"
"0000076059" "00075883" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;SEQ" "DNA" "" "APEX"
"0000076060" "00075884" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;SEQ" "DNA" "" "APEX"
"0000076061" "00075885" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;SEQ" "DNA" "" "APEX"
"0000076062" "00075886" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;SEQ" "DNA" "" "APEX"
"0000076063" "00075887" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;SEQ" "DNA" "" "APEX"
"0000076064" "00075888" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;SEQ" "DNA" "" "APEX"
"0000076065" "00075889" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;SEQ" "DNA" "" "APEX"
"0000076066" "00075890" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;SEQ" "DNA" "" "APEX"
"0000076067" "00075891" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;SEQ" "DNA" "" "APEX"
"0000076068" "00075892" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;SEQ" "DNA" "" "APEX"
"0000076069" "00075893" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;SEQ" "DNA" "" "APEX"
"0000076070" "00075894" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;SEQ" "DNA" "" "APEX"
"0000076071" "00075895" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;SEQ" "DNA" "" "APEX"
"0000076072" "00075896" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;SEQ" "DNA" "" "APEX"
"0000076073" "00075897" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;SEQ" "DNA" "" "APEX"
"0000076074" "00075898" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;SEQ" "DNA" "" "APEX"
"0000076075" "00075899" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;SEQ" "DNA" "" "APEX"
"0000076076" "00075900" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;SEQ" "DNA" "" "APEX"
"0000076077" "00075901" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;SEQ" "DNA" "" "APEX"
"0000076078" "00075902" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;SEQ" "DNA" "" "APEX"
"0000076079" "00075903" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;SEQ" "DNA" "" "APEX"
"0000076080" "00075904" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;SEQ" "DNA" "" "APEX"
"0000076081" "00075905" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;SEQ" "DNA" "" "APEX"
"0000076082" "00075906" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;SEQ" "DNA" "" "APEX"
"0000076083" "00075907" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;SEQ" "DNA" "" "APEX"
"0000076084" "00075908" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;SEQ" "DNA" "" "APEX"
"0000076085" "00075909" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;SEQ" "DNA" "" "APEX"
"0000076086" "00075910" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;SEQ" "DNA" "" "APEX"
"0000076087" "00075911" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;SEQ" "DNA" "" "APEX"
"0000076088" "00075912" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;SEQ" "DNA" "" "APEX"
"0000076089" "00075913" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;SEQ" "DNA" "" "APEX"
"0000076090" "00075914" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;SEQ" "DNA" "" "APEX"
"0000076091" "00075915" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;SEQ" "DNA" "" "APEX"
"0000076092" "00075916" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;SEQ" "DNA" "" "APEX"
"0000076093" "00075917" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;SEQ" "DNA" "" "APEX"
"0000076094" "00075918" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;SEQ" "DNA" "" "APEX"
"0000076095" "00075919" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;SEQ" "DNA" "" "APEX"
"0000076096" "00075920" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;SEQ" "DNA" "" "APEX"
"0000076097" "00075921" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;SEQ" "DNA" "" "APEX"
"0000076098" "00075922" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;SEQ" "DNA" "" "APEX"
"0000076099" "00075923" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;SEQ" "DNA" "" "APEX"
"0000076100" "00075924" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;SEQ" "DNA" "" "APEX"
"0000076101" "00075925" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;SEQ" "DNA" "" "APEX"
"0000076102" "00075926" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;SEQ" "DNA" "" "APEX"
"0000076103" "00075927" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;SEQ" "DNA" "" "APEX"
"0000076104" "00075928" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;SEQ" "DNA" "" "APEX"
"0000076105" "00075929" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;SEQ" "DNA" "" "APEX"
"0000076106" "00075930" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;SEQ" "DNA" "" "APEX"
"0000076107" "00075931" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000076108" "00075932" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000076109" "00075933" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000076110" "00075934" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000076111" "00075935" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000076112" "00075936" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000076113" "00075937" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000076114" "00075938" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000076115" "00075939" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000076116" "00075940" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000076117" "00075941" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SSCA;SEQ" "DNA" "" ""
"0000076118" "00075942" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SSCA;SEQ" "DNA" "" ""
"0000076119" "00075943" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SSCA;SEQ" "DNA" "" ""
"0000076120" "00075944" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SSCA;SEQ" "DNA" "" ""
"0000076121" "00075945" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SSCA;SEQ" "DNA" "" ""
"0000076122" "00075946" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SSCA;HD;PCRdig;SEQ" "DNA" "" ""
"0000076123" "00075947" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SSCA;HD;PCRdig;SEQ" "DNA" "" ""
"0000076124" "00075948" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SSCA;HD;PCRdig;SEQ" "DNA" "" ""
"0000076125" "00075949" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SSCA;HD;PCRdig;SEQ" "DNA" "" ""
"0000076126" "00075950" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SSCA;HD;PCRdig;SEQ" "DNA" "" ""
"0000076127" "00075951" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SSCA;HD;PCRdig;SEQ" "DNA" "" ""
"0000076128" "00075952" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SSCA;HD;PCRdig;SEQ" "DNA" "" ""
"0000076129" "00075953" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SSCA;HD;PCRdig;SEQ" "DNA" "" ""
"0000076130" "00075954" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SSCA;HD;PCRdig;SEQ" "DNA" "" ""
"0000076131" "00075955" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SSCA;HD;PCRdig;SEQ" "DNA" "" ""
"0000076132" "00075956" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SSCA;HD;PCRdig;SEQ" "DNA" "" ""
"0000076133" "00075957" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SSCA;HD;PCRdig;SEQ" "DNA" "" ""
"0000076134" "00075958" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SSCA;HD;PCRdig;SEQ" "DNA" "" ""
"0000076135" "00075959" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SSCA;HD;PCRdig;SEQ" "DNA" "" ""
"0000076136" "00075960" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SSCA;HD;PCRdig;SEQ" "DNA" "" ""
"0000076137" "00075961" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SSCA;HD;PCRdig;SEQ" "DNA" "" ""
"0000076138" "00075962" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SSCA;HD;PCRdig;SEQ" "DNA" "" ""
"0000076139" "00075963" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SSCA;HD;PCRdig;SEQ" "DNA" "" ""
"0000076140" "00075964" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SSCA;HD;PCRdig;SEQ" "DNA" "" ""
"0000076141" "00075965" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SSCA;HD;PCRdig;SEQ" "DNA" "" ""
"0000076142" "00075966" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SSCA;HD;PCRdig;SEQ" "DNA" "" ""
"0000076143" "00075967" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SSCA;HD;PCRdig;SEQ" "DNA" "" ""
"0000076144" "00075968" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SSCA;HD;PCRdig;SEQ" "DNA" "" ""
"0000076145" "00075969" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SSCA;HD;PCRdig;SEQ" "DNA" "" ""
"0000076146" "00075970" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SSCA;HD;PCRdig;SEQ" "DNA" "" ""
"0000076147" "00075971" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SSCA;HD;PCRdig;SEQ" "DNA" "" ""
"0000076148" "00075972" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SSCA;HD;PCRdig;SEQ" "DNA" "" ""
"0000076149" "00075973" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SSCA;HD;PCRdig;SEQ" "DNA" "" ""
"0000076150" "00075974" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SSCA;HD;PCRdig;SEQ" "DNA" "" ""
"0000076151" "00075975" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SSCA;HD;PCRdig;SEQ" "DNA" "" ""
"0000076152" "00075976" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SSCA;HD;PCRdig;SEQ" "DNA" "" ""
"0000076153" "00075977" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SSCA;HD;PCRdig;SEQ" "DNA" "" ""
"0000076154" "00075978" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SSCA;HD;PCRdig;SEQ" "DNA" "" ""
"0000076155" "00075979" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SSCA;HD;PCRdig;SEQ" "DNA" "" ""
"0000076156" "00075980" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SSCA;HD;PCRdig;SEQ" "DNA" "" ""
"0000076157" "00075981" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SSCA;HD;PCRdig;SEQ" "DNA" "" ""
"0000076158" "00075982" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SSCA;HD;PCRdig;SEQ" "DNA" "" ""
"0000076159" "00075983" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SSCA;HD;PCRdig;SEQ" "DNA" "" ""
"0000076160" "00075984" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SSCA;HD;PCRdig;SEQ" "DNA" "" ""
"0000076161" "00075985" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SSCA;HD;PCRdig;SEQ" "DNA" "" ""
"0000076162" "00075986" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SSCA;HD;PCRdig;SEQ" "DNA" "" ""
"0000076163" "00075987" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SSCA;HD;PCRdig;SEQ" "DNA" "" ""
"0000076164" "00075988" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SSCA;HD;PCRdig;SEQ" "DNA" "" ""
"0000076165" "00075989" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SSCA;HD;PCRdig;SEQ" "DNA" "" ""
"0000076166" "00075990" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;DHPLC;SEQ" "DNA" "" ""
"0000076167" "00075991" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;DHPLC;SEQ" "DNA" "" ""
"0000076168" "00075992" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;DHPLC;SEQ" "DNA" "" ""
"0000076169" "00075993" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;DHPLC;SEQ" "DNA" "" ""
"0000076170" "00075994" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;DHPLC;SEQ" "DNA" "" ""
"0000076171" "00075995" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;DHPLC;SEQ" "DNA" "" ""
"0000076172" "00075996" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;DHPLC;SEQ" "DNA" "" ""
"0000076173" "00075997" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;DHPLC;SEQ" "DNA" "" ""
"0000076174" "00075998" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;DHPLC;SEQ" "DNA" "" ""
"0000076175" "00075999" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;DHPLC;SEQ" "DNA" "" ""
"0000076176" "00076000" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;DHPLC;SEQ" "DNA" "" ""
"0000076177" "00076001" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;DHPLC;SEQ" "DNA" "" ""
"0000076178" "00076002" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;DHPLC;SEQ" "DNA" "" ""
"0000076179" "00076003" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;DHPLC;SEQ" "DNA" "" ""
"0000076180" "00076004" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;DHPLC;SEQ" "DNA" "" ""
"0000076181" "00076005" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;DHPLC;SEQ" "DNA" "" ""
"0000076182" "00076006" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;DHPLC;SEQ" "DNA" "" ""
"0000076183" "00076007" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DGGE;SEQ" "DNA" "" "APEX"
"0000076184" "00076008" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000076185" "00076009" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000076186" "00076010" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000076187" "00076011" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000076188" "00076012" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000076189" "00076013" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ" "DNA" "" "APEX"
"0000076190" "00076014" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ" "DNA" "" "APEX"
"0000076191" "00076015" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ" "DNA" "" "APEX"
"0000076192" "00076016" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ" "DNA" "" "APEX"
"0000076193" "00076017" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ" "DNA" "" "APEX"
"0000076194" "00076018" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ" "DNA" "" "APEX"
"0000076195" "00076019" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ" "DNA" "" "APEX"
"0000076196" "00076020" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ" "DNA" "" "APEX"
"0000076197" "00076021" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ" "DNA" "" "APEX"
"0000076198" "00076022" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ" "DNA" "" "APEX"
"0000076199" "00076023" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ" "DNA" "" "APEX"
"0000076200" "00076024" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ" "DNA" "" "APEX"
"0000076201" "00076025" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ" "DNA" "" "APEX"
"0000076202" "00076026" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ" "DNA" "" "APEX"
"0000076203" "00076027" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ" "DNA" "" "APEX"
"0000076204" "00076028" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ" "DNA" "" "APEX"
"0000076205" "00076029" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ" "DNA" "" "APEX"
"0000076206" "00076030" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ" "DNA" "" "APEX"
"0000076207" "00076031" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ" "DNA" "" "APEX"
"0000076208" "00076032" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ" "DNA" "" "APEX"
"0000076209" "00076033" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ" "DNA" "" "APEX"
"0000076210" "00076034" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ" "DNA" "" "APEX"
"0000076211" "00076035" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ" "DNA" "" "APEX"
"0000076212" "00076036" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;DHPLC;SEQ" "DNA" "" ""
"0000076213" "00076037" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCRdig;SEQ" "DNA" "" ""
"0000076214" "00076038" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCRdig;SEQ" "DNA" "" ""
"0000076215" "00076039" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCRdig;SEQ" "DNA" "" ""
"0000076216" "00076040" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCRdig;SEQ" "DNA" "" ""
"0000076217" "00076041" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCRdig;SEQ" "DNA" "" ""
"0000076218" "00076042" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ;?" "DNA" "" ""
"0000076219" "00076043" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ;?" "DNA" "" ""
"0000076220" "00076044" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ;?" "DNA" "" ""
"0000076221" "00076045" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000076222" "00076046" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE" "DNA" "" "APEX"
"0000076223" "00076047" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE" "DNA" "" "APEX"
"0000076224" "00076048" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE" "DNA" "" "APEX"
"0000076225" "00076049" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE" "DNA" "" "APEX"
"0000076226" "00076050" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE" "DNA" "" "APEX"
"0000076227" "00076051" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE" "DNA" "" "APEX"
"0000076228" "00076052" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE" "DNA" "" "APEX"
"0000076229" "00076053" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE" "DNA" "" "APEX"
"0000076230" "00076054" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE" "DNA" "" "APEX"
"0000076231" "00076055" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE" "DNA" "" "APEX"
"0000076232" "00076056" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE" "DNA" "" "APEX"
"0000076233" "00076057" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE" "DNA" "" "APEX"
"0000076234" "00076058" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE" "DNA" "" "APEX"
"0000076235" "00076059" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE" "DNA" "" "APEX"
"0000076236" "00076060" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE" "DNA" "" "APEX"
"0000076237" "00076061" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE" "DNA" "" "APEX"
"0000076238" "00076062" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE" "DNA" "" "APEX"
"0000076239" "00076063" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE" "DNA" "" "APEX"
"0000076240" "00076064" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE" "DNA" "" "APEX"
"0000076241" "00076065" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE" "DNA" "" "APEX"
"0000076242" "00076066" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;SEQ" "DNA" "" ""
"0000076243" "00076067" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "DHPLC;SSCA" "DNA" "" ""
"0000076244" "00076068" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "HD;SEQ" "DNA" "" ""
"0000076245" "00076069" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;SEQ" "DNA" "" "APEX"
"0000076246" "00076070" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ" "DNA" "" ""
"0000076247" "00076071" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;SEQ;MLPA" "DNA" "" "APEX"
"0000076248" "00076072" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;SEQ" "DNA" "" "APEX"
"0000076249" "00076073" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;SEQ" "DNA" "" "APEX"
"0000076250" "00076074" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;SEQ" "DNA" "" "APEX"
"0000076251" "00076075" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;SEQ" "DNA" "" "APEX"
"0000076252" "00076076" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;SEQ" "DNA" "" "APEX"
"0000076253" "00076077" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;SEQ" "DNA" "" "APEX"
"0000076254" "00076078" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;SEQ" "DNA" "" "APEX"
"0000076255" "00076079" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;SEQ" "DNA" "" "APEX"
"0000076256" "00076080" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;SEQ" "DNA" "" "APEX"
"0000076257" "00076081" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;SEQ" "DNA" "" "APEX"
"0000076258" "00076082" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;SEQ" "DNA" "" "APEX"
"0000076259" "00076083" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;SEQ" "DNA" "" "APEX"
"0000076260" "00076084" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;SEQ" "DNA" "" "APEX"
"0000076261" "00076085" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;SEQ" "DNA" "" "APEX"
"0000076262" "00076086" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;SEQ" "DNA" "" "APEX"
"0000076263" "00076087" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;SEQ" "DNA" "" "APEX"
"0000076264" "00076088" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;SEQ" "DNA" "" "APEX"
"0000076265" "00076089" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;SEQ" "DNA" "" "APEX"
"0000076266" "00076090" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;SEQ" "DNA" "" "APEX"
"0000076267" "00076091" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;SEQ" "DNA" "" "APEX"
"0000076268" "00076092" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;SEQ;DHPLC" "DNA" "" "APEX"
"0000076269" "00076093" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;SEQ;DHPLC" "DNA" "" "APEX"
"0000076270" "00076094" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;SEQ;DHPLC" "DNA" "" "APEX"
"0000076271" "00076095" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;SEQ;DHPLC" "DNA" "" "APEX"
"0000076272" "00076096" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;SEQ;DHPLC" "DNA" "" "APEX"
"0000076273" "00076097" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;SEQ;DHPLC" "DNA" "" "APEX"
"0000076274" "00076098" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;SEQ;DHPLC" "DNA" "" "APEX"
"0000076275" "00076099" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;SEQ;DHPLC" "DNA" "" "APEX"
"0000076276" "00076100" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;SEQ;DHPLC" "DNA" "" "APEX"
"0000076277" "00076101" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;SEQ;DHPLC" "DNA" "" "APEX"
"0000076278" "00076102" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;SEQ;DHPLC" "DNA" "" "APEX"
"0000076279" "00076103" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;SEQ;DHPLC" "DNA" "" "APEX"
"0000076280" "00076104" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;SEQ;DHPLC" "DNA" "" "APEX"
"0000076281" "00076105" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;SEQ;DHPLC" "DNA" "" "APEX"
"0000076282" "00076106" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;SEQ;DHPLC" "DNA" "" "APEX"
"0000076283" "00076107" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;SEQ;DHPLC" "DNA" "" "APEX"
"0000076284" "00076108" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;SEQ;DHPLC" "DNA" "" "APEX"
"0000076285" "00076109" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;SEQ;DHPLC" "DNA" "" "APEX"
"0000076286" "00076110" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;SEQ;DHPLC" "DNA" "" "APEX"
"0000076287" "00076111" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;SEQ;DHPLC" "DNA" "" "APEX"
"0000076288" "00076112" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;SEQ;DHPLC" "DNA" "" "APEX"
"0000076289" "00076113" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;SEQ;DHPLC" "DNA" "" "APEX"
"0000076290" "00076114" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;SEQ;DHPLC" "DNA" "" "APEX"
"0000076291" "00076115" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;SEQ;DHPLC" "DNA" "" "APEX"
"0000076292" "00076116" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "SSCA;SEQ;PE" "DNA" "" "APEX"
"0000076293" "00076117" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "SSCA;SEQ;PE" "DNA" "" "APEX"
"0000076294" "00076118" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "SSCA;SEQ;PE" "DNA" "" "APEX"
"0000076295" "00076119" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "SSCA;SEQ;PE" "DNA" "" "APEX"
"0000076296" "00076120" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "SSCA;SEQ;PE" "DNA" "" "APEX"
"0000076297" "00076121" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "SSCA;SEQ;PE" "DNA" "" "APEX"
"0000076298" "00076122" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "SSCA;SEQ;PE" "DNA" "" "APEX"
"0000076299" "00076123" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "SSCA;SEQ;PE" "DNA" "" "APEX"
"0000076300" "00076124" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "SSCA;SEQ;PE" "DNA" "" "APEX"
"0000076301" "00076125" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "SSCA;SEQ;PE" "DNA" "" "APEX"
"0000076302" "00076126" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "SSCA;SEQ;PE" "DNA" "" "APEX"
"0000076303" "00076127" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "SSCA;SEQ;PE" "DNA" "" "APEX"
"0000076304" "00076128" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "SSCA;SEQ;PE" "DNA" "" "APEX"
"0000076305" "00076129" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "SSCA;SEQ;PE" "DNA" "" "APEX"
"0000076306" "00076130" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "SSCA;SEQ;PE" "DNA" "" "APEX"
"0000076307" "00076131" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000076308" "00076132" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000076309" "00076133" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000076310" "00076134" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000076311" "00076135" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076312" "00076136" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076313" "00076137" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076314" "00076138" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076315" "00076139" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076316" "00076140" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076317" "00076141" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076318" "00076142" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076319" "00076143" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076320" "00076144" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076321" "00076145" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076322" "00076146" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076323" "00076147" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076324" "00076148" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076325" "00076149" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076326" "00076150" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076327" "00076151" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076328" "00076152" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076329" "00076153" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076330" "00076154" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076331" "00076155" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076332" "00076156" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076333" "00076157" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076334" "00076158" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076335" "00076159" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076336" "00076160" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076337" "00076161" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076338" "00076162" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076339" "00076163" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076340" "00076164" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076341" "00076165" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076342" "00076166" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076343" "00076167" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076344" "00076168" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076345" "00076169" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076346" "00076170" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076347" "00076171" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076348" "00076172" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076349" "00076173" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076350" "00076174" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076351" "00076175" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076352" "00076176" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076353" "00076177" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076354" "00076178" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076355" "00076179" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076356" "00076180" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076357" "00076181" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076358" "00076182" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076359" "00076183" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076360" "00076184" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076361" "00076185" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076362" "00076186" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076363" "00076187" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076364" "00076188" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076365" "00076189" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076366" "00076190" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076367" "00076191" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076368" "00076192" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076369" "00076193" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076370" "00076194" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076371" "00076195" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076372" "00076196" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076373" "00076197" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076374" "00076198" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076375" "00076199" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076376" "00076200" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076377" "00076201" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076378" "00076202" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076379" "00076203" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076380" "00076204" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076381" "00076205" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076382" "00076206" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076383" "00076207" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076384" "00076208" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076385" "00076209" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076386" "00076210" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076387" "00076211" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076388" "00076212" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076389" "00076213" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076390" "00076214" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076391" "00076215" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076392" "00076216" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076393" "00076217" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076394" "00076218" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076395" "00076219" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076396" "00076220" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076397" "00076221" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076398" "00076222" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076399" "00076223" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076400" "00076224" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076401" "00076225" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076402" "00076226" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076403" "00076227" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076404" "00076228" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076405" "00076229" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076406" "00076230" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076407" "00076231" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076408" "00076232" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076409" "00076233" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076410" "00076234" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076411" "00076235" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076412" "00076236" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076413" "00076237" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076414" "00076238" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076415" "00076239" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076416" "00076240" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076417" "00076241" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076418" "00076242" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076419" "00076243" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076420" "00076244" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076421" "00076245" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076422" "00076246" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076423" "00076247" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076424" "00076248" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076425" "00076249" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076426" "00076250" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076427" "00076251" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076428" "00076252" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076429" "00076253" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076430" "00076254" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076431" "00076255" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076432" "00076256" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076433" "00076257" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076434" "00076258" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076435" "00076259" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076436" "00076260" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076437" "00076261" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076438" "00076262" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076439" "00076263" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076440" "00076264" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076441" "00076265" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076442" "00076266" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076443" "00076267" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076444" "00076268" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076445" "00076269" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076446" "00076270" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076447" "00076271" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076448" "00076272" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076449" "00076273" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076450" "00076274" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076451" "00076275" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076452" "00076276" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076453" "00076277" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076454" "00076278" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076455" "00076279" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076456" "00076280" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076457" "00076281" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076458" "00076282" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076459" "00076283" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076460" "00076284" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076461" "00076285" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076462" "00076286" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076463" "00076287" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076464" "00076288" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076465" "00076289" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076466" "00076290" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076467" "00076291" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076468" "00076292" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076469" "00076293" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076470" "00076294" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076471" "00076295" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076472" "00076296" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076473" "00076297" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076474" "00076298" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076475" "00076299" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076476" "00076300" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076477" "00076301" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076478" "00076302" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076479" "00076303" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076480" "00076304" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076481" "00076305" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076482" "00076306" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076483" "00076307" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076484" "00076308" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076485" "00076309" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076486" "00076310" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076487" "00076311" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076488" "00076312" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076489" "00076313" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076490" "00076314" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076491" "00076315" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076492" "00076316" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076493" "00076317" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076494" "00076318" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;SSCA;PE;SEQ" "DNA" "" "APEX"
"0000076495" "00076319" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SSCA;SEQ" "DNA" "" ""
"0000076496" "00076320" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SSCA;SEQ" "DNA" "" ""
"0000076497" "00076321" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SSCA;SEQ" "DNA" "" ""
"0000076498" "00076322" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SSCA;SEQ" "DNA" "" ""
"0000076499" "00076323" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SSCA;SEQ" "DNA" "" ""
"0000076500" "00076324" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SSCA;SEQ" "DNA" "" ""
"0000076501" "00076325" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SSCA;SEQ" "DNA" "" ""
"0000076502" "00076326" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SSCA;SEQ" "DNA" "" ""
"0000076503" "00076327" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SSCA;SEQ" "DNA" "" ""
"0000076504" "00076328" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SSCA;SEQ" "DNA" "" ""
"0000076505" "00076329" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SSCA;SEQ" "DNA" "" ""
"0000076506" "00076330" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SSCA;SEQ" "DNA" "" ""
"0000076507" "00076331" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SSCA;SEQ" "DNA" "" ""
"0000076508" "00076332" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SSCA;SEQ" "DNA" "" ""
"0000076509" "00076333" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SSCA;SEQ" "DNA" "" ""
"0000076510" "00076334" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ" "DNA" "" "APEX"
"0000076511" "00076335" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ" "DNA" "" "APEX"
"0000076512" "00076336" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ" "DNA" "" "APEX"
"0000076513" "00076337" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ" "DNA" "" "APEX"
"0000076514" "00076338" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ" "DNA" "" "APEX"
"0000076515" "00076339" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ" "DNA" "" "APEX"
"0000076516" "00076340" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;DHPLC;SEQ" "DNA" "" ""
"0000076517" "00076341" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;DHPLC;SEQ" "DNA" "" ""
"0000076518" "00076342" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;DHPLC;SEQ" "DNA" "" ""
"0000076519" "00076343" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;DHPLC;SEQ" "DNA" "" ""
"0000076520" "00076344" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;DHPLC;SEQ" "DNA" "" ""
"0000076521" "00076345" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;DHPLC;SEQ" "DNA" "" ""
"0000076522" "00076346" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;DHPLC;SEQ" "DNA" "" ""
"0000076523" "00076347" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;DHPLC;SEQ" "DNA" "" ""
"0000076524" "00076348" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;DHPLC;SEQ" "DNA" "" ""
"0000076525" "00076349" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;DHPLC;SEQ" "DNA" "" ""
"0000076526" "00076350" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;DHPLC;SEQ" "DNA" "" ""
"0000076527" "00076351" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;DHPLC;SEQ" "DNA" "" ""
"0000076528" "00076352" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;DHPLC;SEQ" "DNA" "" ""
"0000076529" "00076353" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;DHPLC;SEQ" "DNA" "" ""
"0000076530" "00076354" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;DHPLC;SEQ" "DNA" "" ""
"0000076531" "00076355" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;DHPLC;SEQ" "DNA" "" ""
"0000076532" "00076356" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;DHPLC;SEQ" "DNA" "" ""
"0000076533" "00076357" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;DHPLC;SEQ" "DNA" "" ""
"0000076534" "00076358" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;DHPLC;SEQ" "DNA" "" ""
"0000076535" "00076359" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;DHPLC;SEQ" "DNA" "" ""
"0000076536" "00076360" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;DHPLC;SEQ" "DNA" "" ""
"0000076537" "00076361" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;DHPLC;SEQ" "DNA" "" ""
"0000076538" "00076362" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;DHPLC;SEQ" "DNA" "" ""
"0000076539" "00076363" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;DHPLC;SEQ" "DNA" "" ""
"0000076540" "00076364" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;DHPLC;SEQ" "DNA" "" ""
"0000076541" "00076365" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;DHPLC;SEQ" "DNA" "" ""
"0000076542" "00076366" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;DHPLC;SEQ" "DNA" "" ""
"0000076543" "00076367" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;DHPLC;SEQ" "DNA" "" ""
"0000076544" "00076368" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;DHPLC;SEQ" "DNA" "" ""
"0000076545" "00076369" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;DHPLC;SEQ" "DNA" "" ""
"0000076546" "00076370" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;DHPLC;SEQ" "DNA" "" ""
"0000076547" "00076371" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;DHPLC;SEQ" "DNA" "" ""
"0000076548" "00076372" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;DHPLC;SEQ" "DNA" "" ""
"0000076549" "00076373" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;DHPLC;SEQ" "DNA" "" ""
"0000076550" "00076374" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;DHPLC;SEQ" "DNA" "" ""
"0000076551" "00076375" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;DHPLC;SEQ" "DNA" "" ""
"0000076552" "00076376" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;DHPLC;SEQ" "DNA" "" ""
"0000076553" "00076377" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;DHPLC;SEQ" "DNA" "" ""
"0000076554" "00076378" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;DHPLC;SEQ" "DNA" "" ""
"0000076555" "00076379" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;DHPLC;SEQ" "DNA" "" ""
"0000076556" "00076380" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;DHPLC;SEQ" "DNA" "" ""
"0000076557" "00076381" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;DHPLC;SEQ" "DNA" "" ""
"0000076558" "00076382" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;DHPLC;SEQ" "DNA" "" ""
"0000076559" "00076383" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;DHPLC;SEQ" "DNA" "" ""
"0000076560" "00076384" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;DHPLC;SEQ" "DNA" "" ""
"0000076561" "00076385" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;DHPLC;SEQ" "DNA" "" ""
"0000076562" "00076386" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;DHPLC;SEQ" "DNA" "" ""
"0000076563" "00076387" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;DHPLC;SEQ" "DNA" "" ""
"0000076564" "00076388" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;DHPLC;SEQ" "DNA" "" ""
"0000076565" "00076389" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;DHPLC;SEQ" "DNA" "" ""
"0000076566" "00076390" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;DHPLC;SEQ" "DNA" "" ""
"0000076567" "00076391" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;DHPLC;SEQ" "DNA" "" ""
"0000076568" "00076392" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;DHPLC;SEQ" "DNA" "" ""
"0000076569" "00076393" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;DHPLC;SEQ" "DNA" "" ""
"0000076570" "00076394" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;DHPLC;SEQ" "DNA" "" ""
"0000076571" "00076395" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;DHPLC;SEQ" "DNA" "" ""
"0000076572" "00076396" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;DHPLC;SEQ" "DNA" "" ""
"0000076573" "00076397" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;DHPLC;SEQ" "DNA" "" ""
"0000076574" "00076398" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;DHPLC;SEQ" "DNA" "" ""
"0000076575" "00076399" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;DHPLC;SEQ" "DNA" "" ""
"0000076576" "00076400" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;DHPLC;SEQ" "DNA" "" ""
"0000076577" "00076401" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;DHPLC;SEQ" "DNA" "" ""
"0000076578" "00076402" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;DHPLC;SEQ" "DNA" "" ""
"0000076579" "00076403" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;DHPLC;SEQ" "DNA" "" ""
"0000076580" "00076404" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;DHPLC;SEQ" "DNA" "" ""
"0000076581" "00076405" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;DHPLC;SEQ" "DNA" "" ""
"0000076582" "00076406" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;DHPLC;SEQ" "DNA" "" ""
"0000076583" "00076407" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;DHPLC;SEQ" "DNA" "" ""
"0000076584" "00076408" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;DHPLC;SEQ" "DNA" "" "APEX"
"0000076585" "00076409" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;DHPLC;SEQ" "DNA" "" "APEX"
"0000076586" "00076410" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;DHPLC;SEQ" "DNA" "" "APEX"
"0000076587" "00076411" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;DHPLC;SEQ" "DNA" "" "APEX"
"0000076588" "00076412" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;DHPLC;SEQ" "DNA" "" "APEX"
"0000076589" "00076413" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;DHPLC;SEQ" "DNA" "" "APEX"
"0000076590" "00076414" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;DHPLC;SEQ" "DNA" "" "APEX"
"0000076591" "00076415" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;DHPLC;SEQ" "DNA" "" "APEX"
"0000076592" "00076416" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;DHPLC;SEQ" "DNA" "" "APEX"
"0000076593" "00076417" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;DHPLC;SEQ" "DNA" "" "APEX"
"0000076594" "00076418" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;DHPLC;SEQ" "DNA" "" "APEX"
"0000076595" "00076419" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;DHPLC;SEQ" "DNA" "" "APEX"
"0000076596" "00076420" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;DHPLC;SEQ" "DNA" "" "APEX"
"0000076597" "00076421" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;DHPLC;SEQ" "DNA" "" "APEX"
"0000076598" "00076422" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;DHPLC;SEQ" "DNA" "" "APEX"
"0000076599" "00076423" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;DHPLC;SEQ" "DNA" "" "APEX"
"0000076600" "00076424" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;DHPLC;SEQ" "DNA" "" "APEX"
"0000076601" "00076425" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;DHPLC;SEQ" "DNA" "" "APEX"
"0000076602" "00076426" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;DHPLC;SEQ" "DNA" "" "APEX"
"0000076603" "00076427" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;DHPLC;SEQ" "DNA" "" "APEX"
"0000076604" "00076428" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;DHPLC;SEQ" "DNA" "" "APEX"
"0000076605" "00076429" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;DHPLC;SEQ" "DNA" "" "APEX"
"0000076606" "00076430" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;DHPLC;SEQ" "DNA" "" "APEX"
"0000076607" "00076431" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;DHPLC;SEQ" "DNA" "" "APEX"
"0000076608" "00076432" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;DHPLC;SEQ" "DNA" "" "APEX"
"0000076609" "00076433" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;DHPLC;SEQ" "DNA" "" "APEX"
"0000076610" "00076434" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;DHPLC;SEQ" "DNA" "" "APEX"
"0000076611" "00076435" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;DHPLC;SEQ" "DNA" "" "APEX"
"0000076612" "00076436" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;DHPLC;SEQ" "DNA" "" "APEX"
"0000076613" "00076437" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;DHPLC;SEQ" "DNA" "" "APEX"
"0000076614" "00076438" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;DHPLC;SEQ" "DNA" "" "APEX"
"0000076615" "00076439" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;DHPLC;SEQ" "DNA" "" "APEX"
"0000076616" "00076440" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;DHPLC;SEQ" "DNA" "" "APEX"
"0000076617" "00076441" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;DHPLC;SEQ" "DNA" "" "APEX"
"0000076618" "00076442" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;DHPLC;SEQ" "DNA" "" "APEX"
"0000076619" "00076443" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;DHPLC;SEQ" "DNA" "" "APEX"
"0000076620" "00076444" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;DHPLC;SEQ" "DNA" "" "APEX"
"0000076621" "00076445" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;DHPLC;SEQ" "DNA" "" "APEX"
"0000076622" "00076446" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;DHPLC;SEQ" "DNA" "" "APEX"
"0000076623" "00076447" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;DHPLC;SEQ" "DNA" "" "APEX"
"0000076624" "00076448" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;DHPLC;SEQ" "DNA" "" "APEX"
"0000076625" "00076449" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;DHPLC;SEQ" "DNA" "" "APEX"
"0000076626" "00076450" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;DHPLC;SEQ" "DNA" "" "APEX"
"0000076627" "00076451" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;DHPLC;SEQ" "DNA" "" "APEX"
"0000076628" "00076452" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;DHPLC;SEQ" "DNA" "" "APEX"
"0000076629" "00076453" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;DHPLC;SEQ" "DNA" "" "APEX"
"0000076630" "00076454" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;DHPLC;SEQ" "DNA" "" "APEX"
"0000076631" "00076455" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;DHPLC;SEQ" "DNA" "" "APEX"
"0000076632" "00076456" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;DHPLC;SEQ" "DNA" "" "APEX"
"0000076633" "00076457" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;DHPLC;SEQ" "DNA" "" "APEX"
"0000076634" "00076458" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;DHPLC;SEQ" "DNA" "" "APEX"
"0000076635" "00076459" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;DHPLC;SEQ" "DNA" "" "APEX"
"0000076636" "00076460" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;DHPLC;SEQ" "DNA" "" "APEX"
"0000076637" "00076461" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;DHPLC;SEQ" "DNA" "" "APEX"
"0000076638" "00076462" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;DHPLC;SEQ" "DNA" "" "APEX"
"0000076639" "00076463" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;DHPLC;SEQ" "DNA" "" "APEX"
"0000076640" "00076464" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;DHPLC;SEQ" "DNA" "" "APEX"
"0000076641" "00076465" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;DHPLC;SEQ" "DNA" "" "APEX"
"0000076642" "00076466" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;DHPLC;SEQ" "DNA" "" "APEX"
"0000076643" "00076467" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;DHPLC;SEQ" "DNA" "" "APEX"
"0000076644" "00076468" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;DHPLC;SEQ" "DNA" "" "APEX"
"0000076645" "00076469" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;DHPLC;SEQ" "DNA" "" "APEX"
"0000076646" "00076470" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;DHPLC;SEQ" "DNA" "" "APEX"
"0000076647" "00076471" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;DHPLC;SEQ" "DNA" "" "APEX"
"0000076648" "00076472" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;DHPLC;SEQ" "DNA" "" "APEX"
"0000076649" "00076473" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;DHPLC" "DNA" "" "APEX"
"0000076650" "00076474" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;DHPLC" "DNA" "" "APEX"
"0000076651" "00076475" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ" "DNA" "" "APEX"
"0000076652" "00076476" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ" "DNA" "" "APEX"
"0000076653" "00076477" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ" "DNA" "" "APEX"
"0000076654" "00076478" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ" "DNA" "" "APEX"
"0000076655" "00076479" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ" "DNA" "" "APEX"
"0000076656" "00076480" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ" "DNA" "" "APEX"
"0000076657" "00076481" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ" "DNA" "" "APEX"
"0000076658" "00076482" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ" "DNA" "" "APEX"
"0000076659" "00076483" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ" "DNA" "" "APEX"
"0000076660" "00076484" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ" "DNA" "" "APEX"
"0000076661" "00076485" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ" "DNA" "" "APEX"
"0000076662" "00076486" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ" "DNA" "" "APEX"
"0000076663" "00076487" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ" "DNA" "" "APEX"
"0000076664" "00076488" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ" "DNA" "" "APEX"
"0000076665" "00076489" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ" "DNA" "" "APEX"
"0000076666" "00076490" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000076667" "00076491" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000076668" "00076492" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;DHPLC;SEQ" "DNA" "" "APEX"
"0000076669" "00076493" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;DHPLC;SEQ" "DNA" "" "APEX"
"0000076670" "00076494" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;DHPLC;SEQ" "DNA" "" "APEX"
"0000076671" "00076495" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;DHPLC;SEQ" "DNA" "" "APEX"
"0000076672" "00076496" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;DHPLC;SEQ" "DNA" "" "APEX"
"0000076673" "00076497" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;DHPLC;SEQ" "DNA" "" "APEX"
"0000076674" "00076498" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;DHPLC;SEQ" "DNA" "" "APEX"
"0000076675" "00076499" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;DHPLC;SEQ" "DNA" "" "APEX"
"0000076676" "00076500" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;DHPLC;SEQ" "DNA" "" "APEX"
"0000076677" "00076501" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;DHPLC;SEQ" "DNA" "" "APEX"
"0000076678" "00076502" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;DHPLC;SEQ" "DNA" "" "APEX"
"0000076679" "00076503" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;DHPLC;SEQ" "DNA" "" "APEX"
"0000076680" "00076504" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;DHPLC;SEQ" "DNA" "" "APEX"
"0000076681" "00076505" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;DHPLC;SEQ" "DNA" "" "APEX"
"0000076682" "00076506" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;DHPLC;SEQ" "DNA" "" "APEX"
"0000076683" "00076507" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;DHPLC;SEQ" "DNA" "" "APEX"
"0000076684" "00076508" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;DHPLC;SEQ" "DNA" "" "APEX"
"0000076685" "00076509" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;DHPLC;SEQ" "DNA" "" "APEX"
"0000076686" "00076510" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;DHPLC;SEQ" "DNA" "" "APEX"
"0000076687" "00076511" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;DHPLC;SEQ" "DNA" "" "APEX"
"0000076688" "00076512" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;DHPLC;SEQ" "DNA" "" "APEX"
"0000076689" "00076513" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;SSCA;SEQ" "DNA" "" "APEX"
"0000076690" "00076514" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;SSCA;SEQ" "DNA" "" "APEX"
"0000076691" "00076515" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;SSCA;SEQ" "DNA" "" "APEX"
"0000076692" "00076516" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;SSCA;SEQ" "DNA" "" "APEX"
"0000076693" "00076517" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;SSCA;SEQ" "DNA" "" "APEX"
"0000076694" "00076518" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;SSCA;SEQ" "DNA" "" "APEX"
"0000076695" "00076519" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;SSCA;SEQ" "DNA" "" "APEX"
"0000076696" "00076520" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;DHPLC;MCA;SEQ" "DNA" "" ""
"0000076697" "00076521" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;DHPLC;MCA;SEQ" "DNA" "" ""
"0000076698" "00076522" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;DHPLC;MCA;SEQ" "DNA" "" ""
"0000076699" "00076523" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;DHPLC;MCA;SEQ" "DNA" "" ""
"0000076700" "00076524" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;DHPLC;MCA;SEQ" "DNA" "" ""
"0000076701" "00076525" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;DHPLC;MCA;SEQ" "DNA" "" ""
"0000076702" "00076526" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;DHPLC;MCA;SEQ" "DNA" "" ""
"0000076703" "00076527" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;DHPLC;MCA;SEQ" "DNA" "" ""
"0000076704" "00076528" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;DHPLC;MCA;SEQ" "DNA" "" ""
"0000076705" "00076529" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;DHPLC;MCA;SEQ" "DNA" "" ""
"0000076706" "00076530" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;DHPLC;MCA;SEQ" "DNA" "" ""
"0000076707" "00076531" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;DHPLC;MCA;SEQ" "DNA" "" ""
"0000076708" "00076532" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;DHPLC;MCA;SEQ" "DNA" "" ""
"0000076709" "00076533" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;DHPLC;MCA;SEQ" "DNA" "" ""
"0000076710" "00076534" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;DHPLC;MCA;SEQ" "DNA" "" ""
"0000076711" "00076535" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;DHPLC;MCA;SEQ" "DNA" "" ""
"0000076712" "00076536" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;DHPLC;MCA;SEQ" "DNA" "" ""
"0000076713" "00076537" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DGGE;SEQ" "DNA" "" "APEX"
"0000076714" "00076538" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DGGE;SEQ" "DNA" "" "APEX"
"0000076715" "00076539" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DGGE;SEQ" "DNA" "" "APEX"
"0000076716" "00076540" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DGGE;SEQ" "DNA" "" "APEX"
"0000076717" "00076541" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DGGE;SEQ" "DNA" "" "APEX"
"0000076718" "00076542" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DGGE;SEQ" "DNA" "" "APEX"
"0000076719" "00076543" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DGGE;SEQ" "DNA" "" "APEX"
"0000076720" "00076544" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DGGE;SEQ" "DNA" "" "APEX"
"0000076721" "00076545" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DGGE;SEQ" "DNA" "" "APEX"
"0000076722" "00076546" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DGGE;SEQ" "DNA" "" "APEX"
"0000076723" "00076547" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DGGE;SEQ" "DNA" "" "APEX"
"0000076724" "00076548" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DGGE;SEQ" "DNA" "" "APEX"
"0000076725" "00076549" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DGGE;SEQ" "DNA" "" "APEX"
"0000076726" "00076550" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DGGE;SEQ" "DNA" "" "APEX"
"0000076727" "00076551" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DGGE;SEQ" "DNA" "" "APEX"
"0000076728" "00076552" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DGGE;SEQ" "DNA" "" "APEX"
"0000076729" "00076553" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DGGE;SEQ" "DNA" "" "APEX"
"0000076730" "00076554" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DGGE;SEQ" "DNA" "" "APEX"
"0000076731" "00076555" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DGGE;SEQ" "DNA" "" "APEX"
"0000076732" "00076556" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DGGE;SEQ" "DNA" "" "APEX"
"0000076733" "00076557" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DGGE;SEQ" "DNA" "" "APEX"
"0000076734" "00076558" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DGGE;SEQ" "DNA" "" "APEX"
"0000076735" "00076559" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DGGE;SEQ" "DNA" "" "APEX"
"0000076736" "00076560" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DGGE;SEQ" "DNA" "" "APEX"
"0000076737" "00076561" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DGGE;SEQ" "DNA" "" "APEX"
"0000076738" "00076562" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DGGE;SEQ" "DNA" "" "APEX"
"0000076739" "00076563" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DGGE;SEQ" "DNA" "" "APEX"
"0000076740" "00076564" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DGGE;SEQ" "DNA" "" "APEX"
"0000076741" "00076565" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DGGE;SEQ" "DNA" "" "APEX"
"0000076742" "00076566" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DGGE;SEQ" "DNA" "" "APEX"
"0000076743" "00076567" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DGGE;SEQ" "DNA" "" "APEX"
"0000076744" "00076568" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DGGE;SEQ" "DNA" "" "APEX"
"0000076745" "00076569" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DGGE;SEQ" "DNA" "" "APEX"
"0000076746" "00076570" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DGGE;SEQ" "DNA" "" "APEX"
"0000076747" "00076571" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DGGE;SEQ" "DNA" "" "APEX"
"0000076748" "00076572" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DGGE;SEQ" "DNA" "" "APEX"
"0000076749" "00076573" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DGGE;SEQ" "DNA" "" "APEX"
"0000076750" "00076574" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DGGE;SEQ" "DNA" "" "APEX"
"0000076751" "00076575" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DGGE;SEQ" "DNA" "" "APEX"
"0000076752" "00076576" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DGGE;SEQ" "DNA" "" "APEX"
"0000076753" "00076577" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DGGE;SEQ" "DNA" "" "APEX"
"0000076754" "00076578" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DGGE;SEQ" "DNA" "" "APEX"
"0000076755" "00076579" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DGGE;SEQ" "DNA" "" "APEX"
"0000076756" "00076580" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DGGE;SEQ" "DNA" "" "APEX"
"0000076757" "00076581" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DGGE;SEQ" "DNA" "" "APEX"
"0000076758" "00076582" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DGGE;SEQ" "DNA" "" "APEX"
"0000076759" "00076583" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DGGE;SEQ" "DNA" "" "APEX"
"0000076760" "00076584" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DGGE;SEQ" "DNA" "" "APEX"
"0000076761" "00076585" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DGGE;SEQ" "DNA" "" "APEX"
"0000076762" "00076586" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DGGE;SEQ" "DNA" "" "APEX"
"0000076763" "00076587" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DGGE;SEQ" "DNA" "" "APEX"
"0000076764" "00076588" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DGGE;SEQ" "DNA" "" "APEX"
"0000076765" "00076589" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DGGE;SEQ" "DNA" "" "APEX"
"0000076766" "00076590" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DGGE;SEQ" "DNA" "" "APEX"
"0000076767" "00076591" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DGGE;SEQ" "DNA" "" "APEX"
"0000076768" "00076592" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DGGE;SEQ" "DNA" "" "APEX"
"0000076769" "00076593" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DGGE;SEQ" "DNA" "" "APEX"
"0000076770" "00076594" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DGGE;SEQ" "DNA" "" "APEX"
"0000076771" "00076595" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DGGE;SEQ" "DNA" "" "APEX"
"0000076772" "00076596" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DGGE;SEQ" "DNA" "" "APEX"
"0000076773" "00076597" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DGGE;SEQ" "DNA" "" "APEX"
"0000076774" "00076598" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DGGE;SEQ" "DNA" "" "APEX"
"0000076775" "00076599" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DGGE;SEQ" "DNA" "" "APEX"
"0000076776" "00076600" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DGGE;SEQ" "DNA" "" "APEX"
"0000076777" "00076601" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DGGE;SEQ" "DNA" "" "APEX"
"0000076778" "00076602" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DGGE;SEQ" "DNA" "" "APEX"
"0000076779" "00076603" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DGGE;SEQ" "DNA" "" "APEX"
"0000076780" "00076604" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DGGE;SEQ" "DNA" "" "APEX"
"0000076781" "00076605" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DGGE;SEQ" "DNA" "" "APEX"
"0000076782" "00076606" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DGGE;SEQ" "DNA" "" "APEX"
"0000076783" "00076607" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DGGE;SEQ" "DNA" "" "APEX"
"0000076784" "00076608" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DGGE;SEQ" "DNA" "" "APEX"
"0000076785" "00076609" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DGGE;SEQ" "DNA" "" "APEX"
"0000076786" "00076610" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DGGE;SEQ" "DNA" "" "APEX"
"0000076787" "00076611" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ" "DNA" "" ""
"0000076788" "00076612" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ" "DNA" "" ""
"0000076789" "00076613" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ" "DNA" "" ""
"0000076790" "00076614" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ" "DNA" "" ""
"0000076791" "00076615" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ" "DNA" "" ""
"0000076792" "00076616" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SNPlex;TaqMan;SSCA;SEQ" "DNA" "" ""
"0000076793" "00076617" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SNPlex;TaqMan;SSCA;SEQ" "DNA" "" ""
"0000076794" "00076618" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SNPlex;TaqMan;SSCA;SEQ" "DNA" "" ""
"0000076795" "00076619" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SNPlex;TaqMan;SSCA;SEQ" "DNA" "" ""
"0000076796" "00076620" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SNPlex;TaqMan;SSCA;SEQ" "DNA" "" ""
"0000076797" "00076621" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SNPlex;TaqMan;SSCA;SEQ" "DNA" "" ""
"0000076798" "00076622" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SNPlex;TaqMan;SSCA;SEQ" "DNA" "" ""
"0000076799" "00076623" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SNPlex;TaqMan;SSCA;SEQ" "DNA" "" ""
"0000076800" "00076624" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SNPlex;TaqMan;SSCA;SEQ" "DNA" "" ""
"0000076801" "00076625" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SNPlex;TaqMan;SSCA;SEQ" "DNA" "" ""
"0000076802" "00076626" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SNPlex;TaqMan;SSCA;SEQ" "DNA" "" ""
"0000076803" "00076627" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SNPlex;TaqMan;SSCA;SEQ" "DNA" "" ""
"0000076804" "00076628" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SNPlex;TaqMan;SSCA;SEQ" "DNA" "" ""
"0000076805" "00076629" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SNPlex;TaqMan;SSCA;SEQ" "DNA" "" ""
"0000076806" "00076630" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SNPlex;TaqMan;SSCA;SEQ" "DNA" "" ""
"0000076807" "00076631" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SNPlex;TaqMan;SSCA;SEQ" "DNA" "" ""
"0000076808" "00076632" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SNPlex;TaqMan;SSCA;SEQ" "DNA" "" ""
"0000076809" "00076633" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SNPlex;TaqMan;SSCA;SEQ" "DNA" "" ""
"0000076810" "00076634" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SNPlex;TaqMan;SSCA;SEQ" "DNA" "" ""
"0000076811" "00076635" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SNPlex;TaqMan;SSCA;SEQ" "DNA" "" ""
"0000076812" "00076636" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SNPlex;TaqMan;SSCA;SEQ" "DNA" "" ""
"0000076813" "00076637" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SNPlex;TaqMan;SSCA;SEQ" "DNA" "" ""
"0000076814" "00076638" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SNPlex;TaqMan;SSCA;SEQ" "DNA" "" ""
"0000076815" "00076639" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SNPlex;TaqMan;SSCA;SEQ" "DNA" "" ""
"0000076816" "00076640" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SNPlex;TaqMan;SSCA;SEQ" "DNA" "" ""
"0000076817" "00076641" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SNPlex;TaqMan;SSCA;SEQ" "DNA" "" ""
"0000076818" "00076642" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SNPlex;TaqMan;SSCA;SEQ" "DNA" "" ""
"0000076819" "00076643" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SNPlex;TaqMan;SSCA;SEQ" "DNA" "" ""
"0000076820" "00076644" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SNPlex;TaqMan;SSCA;SEQ" "DNA" "" ""
"0000076821" "00076645" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SNPlex;TaqMan;SSCA;SEQ" "DNA" "" ""
"0000076822" "00076646" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SNPlex;TaqMan;SSCA;SEQ" "DNA" "" ""
"0000076823" "00076647" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SNPlex;TaqMan;SSCA;SEQ" "DNA" "" ""
"0000076824" "00076648" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SNPlex;TaqMan;SSCA;SEQ" "DNA" "" ""
"0000076825" "00076649" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SNPlex;TaqMan;SSCA;SEQ" "DNA" "" ""
"0000076826" "00076650" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SNPlex;TaqMan;SSCA;SEQ" "DNA" "" ""
"0000076827" "00076651" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SNPlex;TaqMan;SSCA;SEQ" "DNA" "" ""
"0000076828" "00076652" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SNPlex;TaqMan;SSCA;SEQ" "DNA" "" ""
"0000076829" "00076653" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SNPlex;TaqMan;SSCA;SEQ" "DNA" "" ""
"0000076830" "00076654" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SNPlex;TaqMan;SSCA;SEQ" "DNA" "" ""
"0000076831" "00076655" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SNPlex;TaqMan;SSCA;SEQ" "DNA" "" ""
"0000076832" "00076656" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SNPlex;TaqMan;SSCA;SEQ" "DNA" "" ""
"0000076833" "00076657" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SNPlex;TaqMan;SSCA;SEQ" "DNA" "" ""
"0000076834" "00076658" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SNPlex;TaqMan;SSCA;SEQ" "DNA" "" ""
"0000076835" "00076659" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SNPlex;TaqMan;SSCA;SEQ" "DNA" "" ""
"0000076836" "00076660" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SNPlex;TaqMan;SSCA;SEQ" "DNA" "" ""
"0000076837" "00076661" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SNPlex;TaqMan;SSCA;SEQ" "DNA" "" ""
"0000076838" "00076662" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SNPlex;TaqMan;SSCA;SEQ" "DNA" "" ""
"0000076839" "00076663" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SNPlex;TaqMan;SSCA;SEQ" "DNA" "" ""
"0000076840" "00076664" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SNPlex;TaqMan;SSCA;SEQ" "DNA" "" ""
"0000076841" "00076665" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SNPlex;TaqMan;SSCA;SEQ" "DNA" "" ""
"0000076842" "00076666" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SNPlex;TaqMan;SSCA;SEQ" "DNA" "" ""
"0000076843" "00076667" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SNPlex;TaqMan;SSCA;SEQ" "DNA" "" ""
"0000076844" "00076668" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SNPlex;TaqMan;SSCA;SEQ" "DNA" "" ""
"0000076845" "00076669" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SNPlex;TaqMan;SSCA;SEQ" "DNA" "" ""
"0000076846" "00076670" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SNPlex;TaqMan;SSCA;SEQ" "DNA" "" ""
"0000076847" "00076671" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SNPlex;TaqMan;SSCA;SEQ" "DNA" "" ""
"0000076848" "00076672" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SNPlex;TaqMan;SSCA;SEQ" "DNA" "" ""
"0000076849" "00076673" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SNPlex;TaqMan;SSCA;SEQ" "DNA" "" ""
"0000076850" "00076674" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SNPlex;TaqMan;SSCA;SEQ" "DNA" "" ""
"0000076851" "00076675" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SNPlex;TaqMan;SSCA;SEQ" "DNA" "" ""
"0000076852" "00076676" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SNPlex;TaqMan;SSCA;SEQ" "DNA" "" ""
"0000076853" "00076677" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SNPlex;TaqMan;SSCA;SEQ" "DNA" "" ""
"0000076854" "00076678" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SNPlex;TaqMan;SSCA;SEQ" "DNA" "" ""
"0000076855" "00076679" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SNPlex;TaqMan;SSCA;SEQ" "DNA" "" ""
"0000076856" "00076680" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SNPlex;TaqMan;SSCA;SEQ" "DNA" "" ""
"0000076857" "00076681" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SNPlex;TaqMan;SSCA;SEQ" "DNA" "" ""
"0000076858" "00076682" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SNPlex;TaqMan;SSCA;SEQ" "DNA" "" ""
"0000076859" "00076683" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SNPlex;TaqMan;SSCA;SEQ" "DNA" "" ""
"0000076860" "00076684" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SNPlex;TaqMan;SSCA;SEQ" "DNA" "" ""
"0000076861" "00076685" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SNPlex;TaqMan;SSCA;SEQ" "DNA" "" ""
"0000076862" "00076686" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SNPlex;TaqMan;SSCA;SEQ" "DNA" "" ""
"0000076863" "00076687" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SNPlex;TaqMan;SSCA;SEQ" "DNA" "" ""
"0000076864" "00076688" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SNPlex;TaqMan;SSCA;SEQ" "DNA" "" ""
"0000076865" "00076689" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SNPlex;TaqMan;SSCA;SEQ" "DNA" "" ""
"0000076866" "00076690" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SNPlex;TaqMan;SSCA;SEQ" "DNA" "" ""
"0000076867" "00076691" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SNPlex;TaqMan;SSCA;SEQ" "DNA" "" ""
"0000076868" "00076692" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SNPlex;TaqMan;SSCA;SEQ" "DNA" "" ""
"0000076869" "00076693" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SNPlex;TaqMan;SSCA;SEQ" "DNA" "" ""
"0000076870" "00076694" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SNPlex;TaqMan;SSCA;SEQ" "DNA" "" ""
"0000076871" "00076695" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SNPlex;TaqMan;SSCA;SEQ" "DNA" "" ""
"0000076872" "00076696" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SNPlex;TaqMan;SSCA;SEQ" "DNA" "" ""
"0000076873" "00076697" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SNPlex;TaqMan;SSCA;SEQ" "DNA" "" ""
"0000076874" "00076698" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SNPlex;TaqMan;SSCA;SEQ" "DNA" "" ""
"0000076875" "00076699" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SNPlex;TaqMan;SSCA;SEQ" "DNA" "" ""
"0000076876" "00076700" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SNPlex;TaqMan;SSCA;SEQ" "DNA" "" ""
"0000076877" "00076701" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SNPlex;TaqMan;SSCA;SEQ" "DNA" "" ""
"0000076878" "00076702" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SNPlex;TaqMan;SSCA;SEQ" "DNA" "" ""
"0000076879" "00076703" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SNPlex;TaqMan;SSCA;SEQ" "DNA" "" ""
"0000076880" "00076704" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SNPlex;TaqMan;SSCA;SEQ" "DNA" "" ""
"0000076881" "00076705" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SNPlex;TaqMan;SSCA;SEQ" "DNA" "" ""
"0000076882" "00076706" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SNPlex;TaqMan;SSCA;SEQ" "DNA" "" ""
"0000076883" "00076707" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SNPlex;TaqMan;SSCA;SEQ" "DNA" "" ""
"0000076884" "00076708" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SNPlex;TaqMan;SSCA;SEQ" "DNA" "" ""
"0000076885" "00076709" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SNPlex;TaqMan;SSCA;SEQ" "DNA" "" ""
"0000076886" "00076710" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SNPlex;TaqMan;SSCA;SEQ" "DNA" "" ""
"0000076887" "00076711" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SNPlex;TaqMan;SSCA;SEQ" "DNA" "" ""
"0000076888" "00076712" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SNPlex;TaqMan;SSCA;SEQ" "DNA" "" ""
"0000076889" "00076713" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SNPlex;TaqMan;SSCA;SEQ" "DNA" "" ""
"0000076890" "00076714" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SNPlex;TaqMan;SSCA;SEQ" "DNA" "" ""
"0000076891" "00076715" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SNPlex;TaqMan;SSCA;SEQ" "DNA" "" ""
"0000076892" "00076716" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SNPlex;TaqMan;SSCA;SEQ" "DNA" "" ""
"0000076893" "00076717" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SNPlex;TaqMan;SSCA;SEQ" "DNA" "" ""
"0000076894" "00076718" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SNPlex;TaqMan;SSCA;SEQ" "DNA" "" ""
"0000076895" "00076719" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SNPlex;TaqMan;SSCA;SEQ" "DNA" "" ""
"0000076896" "00076720" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SNPlex;TaqMan;SSCA;SEQ" "DNA" "" ""
"0000076897" "00076721" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SNPlex;TaqMan;SSCA;SEQ" "DNA" "" ""
"0000076898" "00076722" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SNPlex;TaqMan;SSCA;SEQ" "DNA" "" ""
"0000076899" "00076723" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SNPlex;TaqMan;SSCA;SEQ" "DNA" "" ""
"0000076900" "00076724" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SNPlex;TaqMan;SSCA;SEQ" "DNA" "" ""
"0000076901" "00076725" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SNPlex;TaqMan;SSCA;SEQ" "DNA" "" ""
"0000076902" "00076726" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SNPlex;TaqMan;SSCA;SEQ" "DNA" "" ""
"0000076903" "00076727" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SNPlex;TaqMan;SSCA;SEQ" "DNA" "" ""
"0000076904" "00076728" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SNPlex;TaqMan;SSCA;SEQ" "DNA" "" ""
"0000076905" "00076729" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SNPlex;TaqMan;SSCA;SEQ" "DNA" "" ""
"0000076906" "00076730" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SNPlex;TaqMan;SSCA;SEQ" "DNA" "" ""
"0000076907" "00076731" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SNPlex;TaqMan;SSCA;SEQ" "DNA" "" ""
"0000076908" "00076732" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SNPlex;TaqMan;SSCA;SEQ" "DNA" "" ""
"0000076909" "00076733" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SNPlex;TaqMan;SSCA;SEQ" "DNA" "" ""
"0000076910" "00076734" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SNPlex;TaqMan;SSCA;SEQ" "DNA" "" ""
"0000076911" "00076735" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SNPlex;TaqMan;SSCA;SEQ" "DNA" "" ""
"0000076912" "00076736" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SNPlex;TaqMan;SSCA;SEQ" "DNA" "" ""
"0000076913" "00076737" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SNPlex;TaqMan;SSCA;SEQ" "DNA" "" ""
"0000076914" "00076738" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SNPlex;TaqMan;SSCA;SEQ" "DNA" "" ""
"0000076915" "00076739" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SNPlex;TaqMan;SSCA;SEQ" "DNA" "" ""
"0000076916" "00076740" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SNPlex;TaqMan;SSCA;SEQ" "DNA" "" ""
"0000076917" "00076741" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SNPlex;TaqMan;SSCA;SEQ" "DNA" "" ""
"0000076918" "00076742" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SNPlex;TaqMan;SSCA;SEQ" "DNA" "" ""
"0000076919" "00076743" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SNPlex;TaqMan;SSCA;SEQ" "DNA" "" ""
"0000076920" "00076744" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SNPlex;TaqMan;SSCA;SEQ" "DNA" "" ""
"0000076921" "00076745" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SNPlex;TaqMan;SSCA;SEQ" "DNA" "" ""
"0000076922" "00076746" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SNPlex;TaqMan;SSCA;SEQ" "DNA" "" ""
"0000076923" "00076747" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SNPlex;TaqMan;SSCA;SEQ" "DNA" "" ""
"0000076924" "00076748" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SNPlex;TaqMan;SSCA;SEQ" "DNA" "" ""
"0000076925" "00076749" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SNPlex;TaqMan;SSCA;SEQ" "DNA" "" ""
"0000076926" "00076750" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SNPlex;TaqMan;SSCA;SEQ" "DNA" "" ""
"0000076927" "00076751" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SNPlex;TaqMan;SSCA;SEQ" "DNA" "" ""
"0000076928" "00076752" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SNPlex;TaqMan;SSCA;SEQ" "DNA" "" ""
"0000076929" "00076753" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SNPlex;TaqMan;SSCA;SEQ" "DNA" "" ""
"0000076930" "00076754" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SNPlex;TaqMan;SSCA;SEQ" "DNA" "" ""
"0000076931" "00076755" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SNPlex;TaqMan;SSCA;SEQ" "DNA" "" ""
"0000076932" "00076756" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SNPlex;TaqMan;SSCA;SEQ" "DNA" "" ""
"0000076933" "00076757" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SNPlex;TaqMan;SSCA;SEQ" "DNA" "" ""
"0000076934" "00076758" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SNPlex;TaqMan;SSCA;SEQ" "DNA" "" ""
"0000076935" "00076759" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ" "DNA" "" "APEX"
"0000076936" "00076760" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ" "DNA" "" "APEX"
"0000076937" "00076761" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ" "DNA" "" "APEX"
"0000076938" "00076762" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ" "DNA" "" "APEX"
"0000076939" "00076763" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ" "DNA" "" "APEX"
"0000076940" "00076764" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ" "DNA" "" "APEX"
"0000076941" "00076765" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ" "DNA" "" "APEX"
"0000076942" "00076766" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ" "DNA" "" "APEX"
"0000076943" "00076767" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ" "DNA" "" "APEX"
"0000076944" "00076768" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ" "DNA" "" "APEX"
"0000076945" "00076769" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ" "DNA" "" "APEX"
"0000076946" "00076770" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ" "DNA" "" "APEX"
"0000076947" "00076771" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ" "DNA" "" "APEX"
"0000076948" "00076772" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ" "DNA" "" "APEX"
"0000076949" "00076773" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ" "DNA" "" "APEX"
"0000076950" "00076774" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ" "DNA" "" "APEX"
"0000076951" "00076775" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ" "DNA" "" "APEX"
"0000076952" "00076776" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ" "DNA" "" "APEX"
"0000076953" "00076777" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ" "DNA" "" "APEX"
"0000076954" "00076778" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ" "DNA" "" "APEX"
"0000076955" "00076779" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ" "DNA" "" "APEX"
"0000076956" "00076780" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ" "DNA" "" "APEX"
"0000076957" "00076781" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ" "DNA" "" "APEX"
"0000076958" "00076782" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ" "DNA" "" "APEX"
"0000076959" "00076783" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ" "DNA" "" "APEX"
"0000076960" "00076784" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ" "DNA" "" "APEX"
"0000076961" "00076785" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ" "DNA" "" "APEX"
"0000076962" "00076786" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ" "DNA" "" "APEX"
"0000076963" "00076787" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ" "DNA" "" "APEX"
"0000076964" "00076788" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ" "DNA" "" "APEX"
"0000076965" "00076789" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ" "DNA" "" "APEX"
"0000076966" "00076790" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ" "DNA" "" "APEX"
"0000076967" "00076791" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;SEQ" "DNA" "" ""
"0000076968" "00076792" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;SEQ" "DNA" "" ""
"0000076969" "00076793" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;SEQ" "DNA" "" ""
"0000076970" "00076794" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;SEQ" "DNA" "" ""
"0000076971" "00076795" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;SEQ" "DNA" "" ""
"0000076972" "00076796" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;SEQ" "DNA" "" ""
"0000076973" "00076797" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;SEQ" "DNA" "" ""
"0000076974" "00076798" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;SEQ" "DNA" "" ""
"0000076975" "00076799" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;SEQ" "DNA" "" ""
"0000076976" "00076800" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;SEQ" "DNA" "" ""
"0000076977" "00076801" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;SEQ" "DNA" "" ""
"0000076978" "00076802" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ-NG;SEQ" "DNA" "" "APEX"
"0000076979" "00076803" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ-NG;SEQ" "DNA" "" "APEX"
"0000076980" "00076804" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ-NG;SEQ" "DNA" "" "APEX"
"0000076981" "00076805" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ-NG;SEQ" "DNA" "" "APEX"
"0000076982" "00076806" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ-NG;SEQ" "DNA" "" "APEX"
"0000076983" "00076807" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ-NG;SEQ" "DNA" "" "APEX"
"0000076984" "00076808" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ-NG;SEQ" "DNA" "" "APEX"
"0000076985" "00076809" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ-NG;SEQ" "DNA" "" "APEX"
"0000076986" "00076810" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ-NG;SEQ" "DNA" "" "APEX"
"0000076987" "00076811" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ-NG;SEQ" "DNA" "" "APEX"
"0000076988" "00076812" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ-NG;SEQ" "DNA" "" "APEX"
"0000076989" "00076813" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ-NG;SEQ" "DNA" "" "APEX"
"0000076990" "00076814" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ-NG;SEQ" "DNA" "" "APEX"
"0000076991" "00076815" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ-NG;SEQ" "DNA" "" "APEX"
"0000076992" "00076816" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ-NG;SEQ" "DNA" "" "APEX"
"0000076993" "00076817" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ-NG;SEQ" "DNA" "" "APEX"
"0000076994" "00076818" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ-NG;SEQ" "DNA" "" "APEX"
"0000076995" "00076819" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ-NG;SEQ" "DNA" "" "APEX"
"0000076996" "00076820" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ-NG;SEQ" "DNA" "" "APEX"
"0000076997" "00076821" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ-NG;SEQ" "DNA" "" "APEX"
"0000076998" "00076822" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ-NG;SEQ" "DNA" "" "APEX"
"0000076999" "00076823" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ-NG;SEQ" "DNA" "" "APEX"
"0000077000" "00076824" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ-NG;SEQ" "DNA" "" "APEX"
"0000077001" "00076825" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ-NG;SEQ" "DNA" "" "APEX"
"0000077002" "00076826" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ-NG;SEQ" "DNA" "" "APEX"
"0000077003" "00076827" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ-NG;SEQ" "DNA" "" "APEX"
"0000077004" "00076828" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ-NG;SEQ" "DNA" "" "APEX"
"0000077005" "00076829" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ-NG;SEQ" "DNA" "" "APEX"
"0000077006" "00076830" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ-NG;SEQ" "DNA" "" "APEX"
"0000077007" "00076831" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ-NG;SEQ" "DNA" "" "APEX"
"0000077008" "00076832" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ-NG;SEQ" "DNA" "" "APEX"
"0000077009" "00076833" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ-NG;SEQ" "DNA" "" "APEX"
"0000077010" "00076834" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ-NG;SEQ" "DNA" "" "APEX"
"0000077011" "00076835" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ-NG;SEQ" "DNA" "" "APEX"
"0000077012" "00076836" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ-NG;SEQ" "DNA" "" "APEX"
"0000077013" "00076837" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ-NG;SEQ" "DNA" "" "APEX"
"0000077014" "00076838" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ-NG;SEQ" "DNA" "" "APEX"
"0000077015" "00076839" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ-NG;SEQ" "DNA" "" "APEX"
"0000077016" "00076840" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ-NG;SEQ" "DNA" "" "APEX"
"0000077017" "00076841" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ-NG;SEQ" "DNA" "" "APEX"
"0000077018" "00076842" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ-NG;SEQ" "DNA" "" "APEX"
"0000077019" "00076843" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ-NG;SEQ" "DNA" "" "APEX"
"0000077020" "00076844" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ-NG;SEQ" "DNA" "" "APEX"
"0000077021" "00076845" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ-NG;SEQ" "DNA" "" "APEX"
"0000077022" "00076846" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ-NG;SEQ" "DNA" "" "APEX"
"0000077023" "00076847" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ-NG;SEQ" "DNA" "" "APEX"
"0000077024" "00076848" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ-NG;SEQ" "DNA" "" "APEX"
"0000077025" "00076849" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ-NG;SEQ" "DNA" "" "APEX"
"0000077026" "00076850" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ-NG;SEQ" "DNA" "" "APEX"
"0000077027" "00076851" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ-NG;SEQ" "DNA" "" "APEX"
"0000077028" "00076852" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ-NG;SEQ" "DNA" "" "APEX"
"0000077029" "00076853" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ-NG;SEQ" "DNA" "" "APEX"
"0000077030" "00076854" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ-NG;SEQ" "DNA" "" "APEX"
"0000077031" "00076855" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ-NG;SEQ" "DNA" "" "APEX"
"0000077032" "00076856" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ-NG;SEQ" "DNA" "" "APEX"
"0000077033" "00076857" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ-NG;SEQ" "DNA" "" "APEX"
"0000077034" "00076858" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ-NG;SEQ" "DNA" "" "APEX"
"0000077035" "00076859" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ-NG;SEQ" "DNA" "" "APEX"
"0000077036" "00076860" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ-NG;SEQ" "DNA" "" "APEX"
"0000077037" "00076861" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ-NG;SEQ" "DNA" "" "APEX"
"0000077038" "00076862" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ-NG;SEQ" "DNA" "" "APEX"
"0000077039" "00076863" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ-NG;SEQ" "DNA" "" "APEX"
"0000077040" "00076864" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ-NG;SEQ" "DNA" "" "APEX"
"0000077041" "00076865" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ-NG;SEQ" "DNA" "" "APEX"
"0000077042" "00076866" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ-NG;SEQ" "DNA" "" "APEX"
"0000077043" "00076867" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ-NG;SEQ" "DNA" "" "APEX"
"0000077044" "00076868" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ-NG;SEQ" "DNA" "" "APEX"
"0000077045" "00076869" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ-NG;SEQ" "DNA" "" "APEX"
"0000077046" "00076870" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ-NG;SEQ" "DNA" "" "APEX"
"0000077047" "00076871" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ-NG;SEQ" "DNA" "" "APEX"
"0000077048" "00076872" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ-NG;SEQ" "DNA" "" "APEX"
"0000077049" "00076873" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ-NG;SEQ" "DNA" "" "APEX"
"0000077050" "00076874" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ-NG;SEQ" "DNA" "" "APEX"
"0000077051" "00076875" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ-NG;SEQ" "DNA" "" "APEX"
"0000077052" "00076876" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ-NG;SEQ" "DNA" "" "APEX"
"0000077053" "00076877" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ-NG;SEQ" "DNA" "" "APEX"
"0000077054" "00076878" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ-NG;SEQ" "DNA" "" "APEX"
"0000077055" "00076879" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ-NG;SEQ" "DNA" "" "APEX"
"0000077056" "00076880" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ-NG;SEQ" "DNA" "" "APEX"
"0000077057" "00076881" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ-NG;SEQ" "DNA" "" "APEX"
"0000077058" "00076882" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ-NG;SEQ" "DNA" "" "APEX"
"0000077059" "00076883" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ-NG;SEQ" "DNA" "" "APEX"
"0000077060" "00076884" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ-NG;SEQ" "DNA" "" "APEX"
"0000077061" "00076885" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ-NG;SEQ" "DNA" "" "APEX"
"0000077062" "00076886" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ-NG;SEQ" "DNA" "" "APEX"
"0000077063" "00076887" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ-NG;SEQ" "DNA" "" "APEX"
"0000077064" "00076888" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ-NG;SEQ" "DNA" "" "APEX"
"0000077065" "00076889" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ-NG;SEQ" "DNA" "" "APEX"
"0000077066" "00076890" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ-NG;SEQ" "DNA" "" "APEX"
"0000077067" "00076891" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ-NG;SEQ" "DNA" "" "APEX"
"0000077068" "00076892" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ-NG;SEQ" "DNA" "" "APEX"
"0000077069" "00076893" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ-NG;SEQ" "DNA" "" "APEX"
"0000077070" "00076894" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ-NG;SEQ" "DNA" "" "APEX"
"0000077071" "00076895" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ-NG;SEQ" "DNA" "" "APEX"
"0000077072" "00076896" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ-NG;SEQ" "DNA" "" "APEX"
"0000077073" "00076897" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ-NG;SEQ" "DNA" "" "APEX"
"0000077074" "00076898" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ-NG;SEQ" "DNA" "" "APEX"
"0000077075" "00076899" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ-NG;SEQ" "DNA" "" "APEX"
"0000077076" "00076900" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ-NG;SEQ" "DNA" "" "APEX"
"0000077077" "00076901" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ-NG;SEQ" "DNA" "" "APEX"
"0000077078" "00076902" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ-NG;SEQ" "DNA" "" "APEX"
"0000077079" "00076903" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ-NG;SEQ" "DNA" "" "APEX"
"0000077080" "00076904" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ-NG;SEQ" "DNA" "" "APEX"
"0000077081" "00076905" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ-NG;SEQ" "DNA" "" "APEX"
"0000077082" "00076906" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ-NG;SEQ" "DNA" "" "APEX"
"0000077083" "00076907" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ-NG;SEQ" "DNA" "" "APEX"
"0000077084" "00076908" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ-NG;SEQ" "DNA" "" "APEX"
"0000077085" "00076909" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ-NG;SEQ" "DNA" "" "APEX"
"0000077086" "00076910" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ-NG;SEQ" "DNA" "" "APEX"
"0000077087" "00076911" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ-NG;SEQ" "DNA" "" "APEX"
"0000077088" "00076912" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ-NG;SEQ" "DNA" "" "APEX"
"0000077089" "00076913" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ-NG;SEQ" "DNA" "" "APEX"
"0000077090" "00076914" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ-NG;SEQ" "DNA" "" "APEX"
"0000077091" "00076915" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ-NG;SEQ" "DNA" "" "APEX"
"0000077092" "00076916" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ-NG;SEQ" "DNA" "" "APEX"
"0000077093" "00076917" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ-NG;SEQ" "DNA" "" "APEX"
"0000077094" "00076918" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ-NG;SEQ" "DNA" "" "APEX"
"0000077095" "00076919" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ-NG;SEQ" "DNA" "" "APEX"
"0000077096" "00076920" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ-NG;SEQ" "DNA" "" "APEX"
"0000077097" "00076921" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ-NG;SEQ" "DNA" "" "APEX"
"0000077098" "00076922" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ-NG;SEQ" "DNA" "" "APEX"
"0000077099" "00076923" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ-NG;SEQ" "DNA" "" "APEX"
"0000077100" "00076924" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ-NG;SEQ" "DNA" "" "APEX"
"0000077101" "00076925" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ-NG;SEQ" "DNA" "" "APEX"
"0000077102" "00076926" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ-NG;SEQ" "DNA" "" "APEX"
"0000077103" "00076927" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ-NG;SEQ" "DNA" "" "APEX"
"0000077104" "00076928" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "MLPA;PE;MCA;PCR;SEQ" "DNA" "" "APEX"
"0000077105" "00076929" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "MLPA;PE;MCA;PCR;SEQ" "DNA" "" "APEX"
"0000077106" "00076930" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "MLPA;PE;MCA;PCR;SEQ" "DNA" "" "APEX"
"0000077107" "00076931" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "MLPA;PE;MCA;PCR;SEQ" "DNA" "" "APEX"
"0000077108" "00076932" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "MLPA;PE;MCA;PCR;SEQ" "DNA" "" "APEX"
"0000077109" "00076933" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "MLPA;PE;MCA;PCR;SEQ" "DNA" "" "APEX"
"0000077110" "00076934" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "MLPA;PE;MCA;PCR;SEQ" "DNA" "" "APEX"
"0000077111" "00076935" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "MLPA;PE;MCA;PCR;SEQ" "DNA" "" "APEX"
"0000077112" "00076936" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "MLPA;PE;MCA;PCR;SEQ" "DNA" "" "APEX"
"0000077113" "00076937" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "MLPA;PE;MCA;PCR;SEQ" "DNA" "" "APEX"
"0000077114" "00076938" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "MLPA;PE;MCA;PCR;SEQ" "DNA" "" "APEX"
"0000077115" "00076939" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "MLPA;PE;MCA;PCR;SEQ" "DNA" "" "APEX"
"0000077116" "00076940" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "MLPA;PE;MCA;PCR;SEQ" "DNA" "" "APEX"
"0000077117" "00076941" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "MLPA;PE;MCA;PCR;SEQ" "DNA" "" "APEX"
"0000077118" "00076942" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "MLPA;PE;MCA;PCR;SEQ" "DNA" "" "APEX"
"0000077119" "00076943" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "MLPA;PE;MCA;PCR;SEQ" "DNA" "" "APEX"
"0000077120" "00076944" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "MLPA;PE;MCA;PCR;SEQ" "DNA" "" "APEX"
"0000077121" "00076945" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "MLPA;PE;MCA;PCR;SEQ" "DNA" "" "APEX"
"0000077122" "00076946" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "MLPA;PE;MCA;PCR;SEQ" "DNA" "" "APEX"
"0000077123" "00076947" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "MLPA;PE;MCA;PCR;SEQ" "DNA" "" "APEX"
"0000077124" "00076948" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "MLPA;PE;MCA;PCR;SEQ" "DNA" "" "APEX"
"0000077125" "00076949" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "MLPA;PE;MCA;PCR;SEQ" "DNA" "" "APEX"
"0000077126" "00076950" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "MLPA;PE;MCA;PCR;SEQ" "DNA" "" "APEX"
"0000077127" "00076951" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "MLPA;PE;MCA;PCR;SEQ" "DNA" "" "APEX"
"0000077128" "00076952" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "MLPA;PE;MCA;PCR;SEQ" "DNA" "" "APEX"
"0000077129" "00076953" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "MLPA;PE;MCA;PCR;SEQ" "DNA" "" "APEX"
"0000077130" "00076954" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "MLPA;PE;MCA;PCR;SEQ" "DNA" "" "APEX"
"0000077131" "00076955" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "MLPA;PE;MCA;PCR;SEQ" "DNA" "" "APEX"
"0000077132" "00076956" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "MLPA;PE;MCA;PCR;SEQ" "DNA" "" "APEX"
"0000077133" "00076957" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "MLPA;PE;MCA;PCR;SEQ" "DNA" "" "APEX"
"0000077134" "00076958" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "MLPA;PE;MCA;PCR;SEQ" "DNA" "" "APEX"
"0000077135" "00076959" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "MLPA;PE;MCA;PCR;SEQ" "DNA" "" "APEX"
"0000077136" "00076960" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "MLPA;PE;MCA;PCR;SEQ" "DNA" "" "APEX"
"0000077137" "00076961" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "MLPA;PE;MCA;PCR;SEQ" "DNA" "" "APEX"
"0000077138" "00076962" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "MLPA;PE;MCA;PCR;SEQ" "DNA" "" "APEX"
"0000077139" "00076963" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "MLPA;PE;MCA;PCR;SEQ" "DNA" "" "APEX"
"0000077140" "00076964" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "MLPA;PE;MCA;PCR;SEQ" "DNA" "" "APEX"
"0000077141" "00076965" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "MLPA;PE;MCA;PCR;SEQ" "DNA" "" "APEX"
"0000077142" "00076966" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "MLPA;PE;MCA;PCR;SEQ" "DNA" "" "APEX"
"0000077143" "00076967" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "MLPA;PE;MCA;PCR;SEQ" "DNA" "" "APEX"
"0000077144" "00076968" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ" "DNA" "" "APEX"
"0000077145" "00076969" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ" "DNA" "" "APEX"
"0000077146" "00076970" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ" "DNA" "" "APEX"
"0000077147" "00076971" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ" "DNA" "" "APEX"
"0000077148" "00076972" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077149" "00076973" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077150" "00076974" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077151" "00076975" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077152" "00076976" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077153" "00076977" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077154" "00076978" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077155" "00076979" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077156" "00076980" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077157" "00076981" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077158" "00076982" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077159" "00076983" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077160" "00076984" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077161" "00076985" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077162" "00076986" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077163" "00076987" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077164" "00076988" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077165" "00076989" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077166" "00076990" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077167" "00076991" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077168" "00076992" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077169" "00076993" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077170" "00076994" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077171" "00076995" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077172" "00076996" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077173" "00076997" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077174" "00076998" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077175" "00076999" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077176" "00077000" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077177" "00077001" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077178" "00077002" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077179" "00077003" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077180" "00077004" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077181" "00077005" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077182" "00077006" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077183" "00077007" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077184" "00077008" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077185" "00077009" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077186" "00077010" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077187" "00077011" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077188" "00077012" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077189" "00077013" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077190" "00077014" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077191" "00077015" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077192" "00077016" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077193" "00077017" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077194" "00077018" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077195" "00077019" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077196" "00077020" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077197" "00077021" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077198" "00077022" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077199" "00077023" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077200" "00077024" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077201" "00077025" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077202" "00077026" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077203" "00077027" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077204" "00077028" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077205" "00077029" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077206" "00077030" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077207" "00077031" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077208" "00077032" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077209" "00077033" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077210" "00077034" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077211" "00077035" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077212" "00077036" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077213" "00077037" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077214" "00077038" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077215" "00077039" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077216" "00077040" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077217" "00077041" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077218" "00077042" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077219" "00077043" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077220" "00077044" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077221" "00077045" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077222" "00077046" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077223" "00077047" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077224" "00077048" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077225" "00077049" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077226" "00077050" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077227" "00077051" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077228" "00077052" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077229" "00077053" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077230" "00077054" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077231" "00077055" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077232" "00077056" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077233" "00077057" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077234" "00077058" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077235" "00077059" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077236" "00077060" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077237" "00077061" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077238" "00077062" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077239" "00077063" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077240" "00077064" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077241" "00077065" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077242" "00077066" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077243" "00077067" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077244" "00077068" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077245" "00077069" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077246" "00077070" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077247" "00077071" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077248" "00077072" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077249" "00077073" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077250" "00077074" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077251" "00077075" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077252" "00077076" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077253" "00077077" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077254" "00077078" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077255" "00077079" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077256" "00077080" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077257" "00077081" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077258" "00077082" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077259" "00077083" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077260" "00077084" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077261" "00077085" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077262" "00077086" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077263" "00077087" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077264" "00077088" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077265" "00077089" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077266" "00077090" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077267" "00077091" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077268" "00077092" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077269" "00077093" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077270" "00077094" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077271" "00077095" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077272" "00077096" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077273" "00077097" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077274" "00077098" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077275" "00077099" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077276" "00077100" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077277" "00077101" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077278" "00077102" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077279" "00077103" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077280" "00077104" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077281" "00077105" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077282" "00077106" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077283" "00077107" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077284" "00077108" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077285" "00077109" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077286" "00077110" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077287" "00077111" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077288" "00077112" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077289" "00077113" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077290" "00077114" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077291" "00077115" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077292" "00077116" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077293" "00077117" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077294" "00077118" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077295" "00077119" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077296" "00077120" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077297" "00077121" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077298" "00077122" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077299" "00077123" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077300" "00077124" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077301" "00077125" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077302" "00077126" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077303" "00077127" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077304" "00077128" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077305" "00077129" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077306" "00077130" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077307" "00077131" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077308" "00077132" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077309" "00077133" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077310" "00077134" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077311" "00077135" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077312" "00077136" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077313" "00077137" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077314" "00077138" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077315" "00077139" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077316" "00077140" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077317" "00077141" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077318" "00077142" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077319" "00077143" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077320" "00077144" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077321" "00077145" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077322" "00077146" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077323" "00077147" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077324" "00077148" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077325" "00077149" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077326" "00077150" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077327" "00077151" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077328" "00077152" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077329" "00077153" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077330" "00077154" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077331" "00077155" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077332" "00077156" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077333" "00077157" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077334" "00077158" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077335" "00077159" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077336" "00077160" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ" "DNA" "" "APEX"
"0000077337" "00077161" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ" "DNA" "" "APEX"
"0000077338" "00077162" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ" "DNA" "" "APEX"
"0000077339" "00077163" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ" "DNA" "" "APEX"
"0000077340" "00077164" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ" "DNA" "" "APEX"
"0000077341" "00077165" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ" "DNA" "" "APEX"
"0000077342" "00077166" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ" "DNA" "" "APEX"
"0000077343" "00077167" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ" "DNA" "" "APEX"
"0000077344" "00077168" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ" "DNA" "" "APEX"
"0000077345" "00077169" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ" "DNA" "" "APEX"
"0000077346" "00077170" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ" "DNA" "" "APEX"
"0000077347" "00077171" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ" "DNA" "" "APEX"
"0000077348" "00077172" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ" "DNA" "" "APEX"
"0000077349" "00077173" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ" "DNA" "" "APEX"
"0000077350" "00077174" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ;MLPA" "DNA" "" "APEX"
"0000077351" "00077175" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ;MLPA" "DNA" "" "APEX"
"0000077352" "00077176" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ;MLPA" "DNA" "" "APEX"
"0000077353" "00077177" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ;MLPA" "DNA" "" "APEX"
"0000077354" "00077178" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ;MLPA" "DNA" "" "APEX"
"0000077355" "00077179" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ;MLPA" "DNA" "" "APEX"
"0000077356" "00077180" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ;MLPA" "DNA" "" "APEX"
"0000077357" "00077181" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ;MLPA" "DNA" "" "APEX"
"0000077358" "00077182" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ;MLPA" "DNA" "" "APEX"
"0000077359" "00077183" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ;MLPA" "DNA" "" "APEX"
"0000077360" "00077184" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ;MLPA" "DNA" "" "APEX"
"0000077361" "00077185" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ;MLPA" "DNA" "" "APEX"
"0000077362" "00077186" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ;MLPA" "DNA" "" "APEX"
"0000077363" "00077187" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ;MLPA" "DNA" "" "APEX"
"0000077364" "00077188" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ;MLPA" "DNA" "" "APEX"
"0000077365" "00077189" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ;MLPA" "DNA" "" "APEX"
"0000077366" "00077190" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ;MLPA" "DNA" "" "APEX"
"0000077367" "00077191" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ;MLPA" "DNA" "" "APEX"
"0000077368" "00077192" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ;MLPA" "DNA" "" "APEX"
"0000077369" "00077193" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ;MLPA" "DNA" "" "APEX"
"0000077370" "00077194" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ;MLPA" "DNA" "" "APEX"
"0000077371" "00077195" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ;MLPA" "DNA" "" "APEX"
"0000077372" "00077196" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ;MLPA" "DNA" "" "APEX"
"0000077373" "00077197" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000077374" "00077198" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000077375" "00077199" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000077376" "00077200" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000077377" "00077201" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000077378" "00077202" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000077379" "00077203" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000077380" "00077204" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000077381" "00077205" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000077382" "00077206" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000077383" "00077207" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000077384" "00077208" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000077385" "00077209" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000077386" "00077210" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000077387" "00077211" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000077388" "00077212" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000077389" "00077213" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000077390" "00077214" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000077391" "00077215" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000077392" "00077216" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000077393" "00077217" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000077394" "00077218" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000077395" "00077219" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000077396" "00077220" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000077397" "00077221" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000077398" "00077222" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000077399" "00077223" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000077400" "00077224" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000077401" "00077225" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000077402" "00077226" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000077403" "00077227" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000077404" "00077228" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000077405" "00077229" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000077406" "00077230" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000077407" "00077231" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000077408" "00077232" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000077409" "00077233" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000077410" "00077234" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000077411" "00077235" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000077412" "00077236" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000077413" "00077237" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000077414" "00077238" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000077415" "00077239" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000077416" "00077240" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000077417" "00077241" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000077418" "00077242" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000077419" "00077243" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000077420" "00077244" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000077421" "00077245" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000077422" "00077246" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000077423" "00077247" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000077424" "00077248" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000077425" "00077249" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ;SEQ-NG-R" "DNA" "" "APEX"
"0000077426" "00077250" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ;SEQ-NG-R" "DNA" "" "APEX"
"0000077427" "00077251" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ;SEQ-NG-R" "DNA" "" "APEX"
"0000077428" "00077252" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ;SEQ-NG-R" "DNA" "" "APEX"
"0000077429" "00077253" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ;SEQ-NG-R" "DNA" "" "APEX"
"0000077430" "00077254" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ;SEQ-NG-R" "DNA" "" "APEX"
"0000077431" "00077255" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ;SEQ-NG-R" "DNA" "" "APEX"
"0000077432" "00077256" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ;SEQ-NG-R" "DNA" "" "APEX"
"0000077433" "00077257" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ;SEQ-NG-R" "DNA" "" "APEX"
"0000077434" "00077258" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ;SEQ-NG-R" "DNA" "" "APEX"
"0000077435" "00077259" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ;SEQ-NG-R" "DNA" "" "APEX"
"0000077436" "00077260" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;SEQ" "DNA" "" ""
"0000077437" "00077261" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;SEQ" "DNA" "" ""
"0000077438" "00077262" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;SEQ" "DNA" "" ""
"0000077439" "00077263" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000077440" "00077264" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000077441" "00077265" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000077442" "00077266" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000077443" "00077267" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000077444" "00077268" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000077445" "00077269" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000077446" "00077270" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000077447" "00077271" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000077448" "00077272" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000077449" "00077273" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000077450" "00077274" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000077451" "00077275" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ;MLPA" "DNA" "" ""
"0000077452" "00077276" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ;MLPA" "DNA" "" ""
"0000077453" "00077277" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ;MLPA" "DNA" "" ""
"0000077454" "00077278" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ;MLPA" "DNA" "" ""
"0000077455" "00077279" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ;MLPA" "DNA" "" ""
"0000077456" "00077280" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ;MLPA" "DNA" "" ""
"0000077457" "00077281" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ;MLPA" "DNA" "" ""
"0000077458" "00077282" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ;MLPA" "DNA" "" ""
"0000077459" "00077283" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ;MLPA" "DNA" "" ""
"0000077460" "00077284" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ;MLPA" "DNA" "" ""
"0000077461" "00077285" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ;MLPA" "DNA" "" ""
"0000077462" "00077286" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ;MLPA" "DNA" "" ""
"0000077463" "00077287" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ;MLPA" "DNA" "" ""
"0000077464" "00077288" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ;MLPA" "DNA" "" ""
"0000077465" "00077289" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ;MLPA" "DNA" "" ""
"0000077466" "00077290" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ;MLPA" "DNA" "" ""
"0000077467" "00077291" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ;MLPA" "DNA" "" ""
"0000077468" "00077292" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ;MLPA" "DNA" "" ""
"0000077469" "00077293" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ;MLPA" "DNA" "" ""
"0000077470" "00077294" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ;MLPA" "DNA" "" ""
"0000077471" "00077295" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ;MLPA" "DNA" "" ""
"0000077472" "00077296" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ;MLPA" "DNA" "" ""
"0000077473" "00077297" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ;MLPA" "DNA" "" ""
"0000077474" "00077298" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ;MLPA" "DNA" "" ""
"0000077475" "00077299" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ;MLPA" "DNA" "" ""
"0000077476" "00077300" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ;MLPA" "DNA" "" ""
"0000077477" "00077301" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ;MLPA" "DNA" "" ""
"0000077478" "00077302" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ;MLPA" "DNA" "" ""
"0000077479" "00077303" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ;MLPA" "DNA" "" ""
"0000077480" "00077304" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ;MLPA" "DNA" "" ""
"0000077481" "00077305" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ;MLPA" "DNA" "" ""
"0000077482" "00077306" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ;MLPA" "DNA" "" ""
"0000077483" "00077307" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ;MLPA" "DNA" "" ""
"0000077484" "00077308" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ;MLPA" "DNA" "" ""
"0000077485" "00077309" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ;MLPA" "DNA" "" ""
"0000077486" "00077310" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ;MLPA" "DNA" "" ""
"0000077487" "00077311" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ;MLPA" "DNA" "" ""
"0000077488" "00077312" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ;MLPA" "DNA" "" ""
"0000077489" "00077313" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ;MLPA" "DNA" "" ""
"0000077490" "00077314" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ;MLPA" "DNA" "" ""
"0000077491" "00077315" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ;MLPA" "DNA" "" ""
"0000077492" "00077316" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ;MLPA" "DNA" "" ""
"0000077493" "00077317" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ;MLPA" "DNA" "" ""
"0000077494" "00077318" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ;MLPA" "DNA" "" ""
"0000077495" "00077319" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ;MLPA" "DNA" "" ""
"0000077496" "00077320" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ;MLPA" "DNA" "" ""
"0000077497" "00077321" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ;MLPA" "DNA" "" ""
"0000077498" "00077322" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ;MLPA" "DNA" "" ""
"0000077499" "00077323" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ;MLPA" "DNA" "" ""
"0000077500" "00077324" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ;MLPA" "DNA" "" ""
"0000077501" "00077325" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ;MLPA" "DNA" "" ""
"0000077502" "00077326" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ;MLPA" "DNA" "" ""
"0000077503" "00077327" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ;MLPA" "DNA" "" ""
"0000077504" "00077328" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ;MLPA" "DNA" "" ""
"0000077505" "00077329" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ;MLPA" "DNA" "" ""
"0000077506" "00077330" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ;MLPA" "DNA" "" ""
"0000077507" "00077331" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ;SSCA;HD" "DNA" "" "APEX"
"0000077508" "00077332" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ;SSCA;HD" "DNA" "" "APEX"
"0000077509" "00077333" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ;SSCA;HD" "DNA" "" "APEX"
"0000077510" "00077334" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;arraySNP;PCR;SEQ" "DNA" "" "APEX"
"0000077511" "00077335" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;arraySNP;PCR;SEQ" "DNA" "" "APEX"
"0000077512" "00077336" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000077513" "00077337" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000077514" "00077338" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000077515" "00077339" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000077516" "00077340" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000077517" "00077341" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000077518" "00077342" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000077519" "00077343" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000077520" "00077344" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000077521" "00077345" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000077522" "00077346" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000077523" "00077347" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000077524" "00077348" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000077525" "00077349" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000077526" "00077350" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000077527" "00077351" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000077528" "00077352" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000077529" "00077353" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000077530" "00077354" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000077531" "00077355" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000077532" "00077356" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000077533" "00077357" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000077534" "00077358" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000077535" "00077359" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000077536" "00077360" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000077537" "00077361" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000077538" "00077362" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000077539" "00077363" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000077540" "00077364" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000077541" "00077365" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000077542" "00077366" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000077543" "00077367" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000077544" "00077368" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000077545" "00077369" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000077546" "00077370" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000077547" "00077371" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000077548" "00077372" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000077549" "00077373" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000077550" "00077374" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000077551" "00077375" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000077552" "00077376" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000077553" "00077377" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000077554" "00077378" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000077555" "00077379" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000077556" "00077380" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000077557" "00077381" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000077558" "00077382" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000077559" "00077383" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000077560" "00077384" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000077561" "00077385" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000077562" "00077386" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000077563" "00077387" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000077564" "00077388" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000077565" "00077389" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000077566" "00077390" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000077567" "00077391" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000077568" "00077392" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000077569" "00077393" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000077570" "00077394" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000077571" "00077395" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000077572" "00077396" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000077573" "00077397" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000077574" "00077398" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000077575" "00077399" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000077576" "00077400" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000077577" "00077401" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000077578" "00077402" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000077579" "00077403" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000077580" "00077404" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000077581" "00077405" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000077582" "00077406" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000077583" "00077407" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000077584" "00077408" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;DHPLC" "DNA" "" "APEX"
"0000077585" "00077409" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;DHPLC" "DNA" "" "APEX"
"0000077586" "00077410" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;DHPLC" "DNA" "" "APEX"
"0000077587" "00077411" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;DHPLC" "DNA" "" "APEX"
"0000077588" "00077412" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;DHPLC" "DNA" "" "APEX"
"0000077589" "00077413" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;DHPLC" "DNA" "" "APEX"
"0000077590" "00077414" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;DHPLC" "DNA" "" "APEX"
"0000077591" "00077415" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;DHPLC" "DNA" "" "APEX"
"0000077592" "00077416" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;DHPLC" "DNA" "" "APEX"
"0000077593" "00077417" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;DHPLC" "DNA" "" "APEX"
"0000077594" "00077418" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;DHPLC" "DNA" "" "APEX"
"0000077595" "00077419" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;DHPLC" "DNA" "" "APEX"
"0000077596" "00077420" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;DHPLC" "DNA" "" "APEX"
"0000077597" "00077421" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;DHPLC" "DNA" "" "APEX"
"0000077598" "00077422" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;DHPLC" "DNA" "" "APEX"
"0000077599" "00077423" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;DHPLC" "DNA" "" "APEX"
"0000077600" "00077424" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;DHPLC" "DNA" "" "APEX"
"0000077601" "00077425" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;DHPLC" "DNA" "" "APEX"
"0000077602" "00077426" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;DHPLC" "DNA" "" "APEX"
"0000077603" "00077427" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;DHPLC" "DNA" "" "APEX"
"0000077604" "00077428" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;DHPLC" "DNA" "" "APEX"
"0000077605" "00077429" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;DHPLC" "DNA" "" "APEX"
"0000077606" "00077430" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;DHPLC" "DNA" "" "APEX"
"0000077607" "00077431" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;DHPLC" "DNA" "" "APEX"
"0000077608" "00077432" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;DHPLC" "DNA" "" "APEX"
"0000077609" "00077433" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;DHPLC" "DNA" "" "APEX"
"0000077610" "00077434" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;DHPLC" "DNA" "" "APEX"
"0000077611" "00077435" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;DHPLC" "DNA" "" "APEX"
"0000077612" "00077436" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;DHPLC" "DNA" "" "APEX"
"0000077613" "00077437" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;DHPLC" "DNA" "" "APEX"
"0000077614" "00077438" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;DHPLC" "DNA" "" "APEX"
"0000077615" "00077439" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;DHPLC" "DNA" "" "APEX"
"0000077616" "00077440" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;DHPLC" "DNA" "" "APEX"
"0000077617" "00077441" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;DHPLC" "DNA" "" "APEX"
"0000077618" "00077442" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;DHPLC" "DNA" "" "APEX"
"0000077619" "00077443" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;DHPLC" "DNA" "" "APEX"
"0000077620" "00077444" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;DHPLC" "DNA" "" "APEX"
"0000077621" "00077445" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;DHPLC" "DNA" "" "APEX"
"0000077622" "00077446" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;DHPLC" "DNA" "" "APEX"
"0000077623" "00077447" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;DHPLC" "DNA" "" "APEX"
"0000077624" "00077448" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;DHPLC" "DNA" "" "APEX"
"0000077625" "00077449" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;DHPLC" "DNA" "" "APEX"
"0000077626" "00077450" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;DHPLC" "DNA" "" "APEX"
"0000077627" "00077451" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;DHPLC" "DNA" "" "APEX"
"0000077628" "00077452" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;DHPLC" "DNA" "" "APEX"
"0000077629" "00077453" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;DHPLC" "DNA" "" "APEX"
"0000077630" "00077454" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;DHPLC" "DNA" "" "APEX"
"0000077631" "00077455" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;DHPLC" "DNA" "" "APEX"
"0000077632" "00077456" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;DHPLC" "DNA" "" "APEX"
"0000077633" "00077457" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;DHPLC" "DNA" "" "APEX"
"0000077634" "00077458" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;DHPLC" "DNA" "" "APEX"
"0000077635" "00077459" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;DHPLC" "DNA" "" "APEX"
"0000077636" "00077460" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;DHPLC" "DNA" "" "APEX"
"0000077637" "00077461" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;DHPLC" "DNA" "" "APEX"
"0000077638" "00077462" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;DHPLC" "DNA" "" "APEX"
"0000077639" "00077463" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;DHPLC" "DNA" "" "APEX"
"0000077640" "00077464" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;DHPLC" "DNA" "" "APEX"
"0000077641" "00077465" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;DHPLC" "DNA" "" "APEX"
"0000077642" "00077466" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;DHPLC" "DNA" "" "APEX"
"0000077643" "00077467" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;DHPLC" "DNA" "" "APEX"
"0000077644" "00077468" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;DHPLC" "DNA" "" "APEX"
"0000077645" "00077469" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;DHPLC" "DNA" "" "APEX"
"0000077646" "00077470" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;DHPLC" "DNA" "" "APEX"
"0000077647" "00077471" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;DHPLC" "DNA" "" "APEX"
"0000077648" "00077472" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;DHPLC" "DNA" "" "APEX"
"0000077649" "00077473" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;DHPLC" "DNA" "" "APEX"
"0000077650" "00077474" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;DHPLC" "DNA" "" "APEX"
"0000077651" "00077475" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;DHPLC" "DNA" "" "APEX"
"0000077652" "00077476" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;DHPLC" "DNA" "" "APEX"
"0000077653" "00077477" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;DHPLC" "DNA" "" "APEX"
"0000077654" "00077478" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;DHPLC" "DNA" "" "APEX"
"0000077655" "00077479" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;DHPLC" "DNA" "" "APEX"
"0000077656" "00077480" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;DHPLC" "DNA" "" "APEX"
"0000077657" "00077481" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;DHPLC" "DNA" "" "APEX"
"0000077658" "00077482" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;DHPLC" "DNA" "" "APEX"
"0000077659" "00077483" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;DHPLC" "DNA" "" "APEX"
"0000077660" "00077484" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;DHPLC" "DNA" "" "APEX"
"0000077661" "00077485" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;DHPLC" "DNA" "" "APEX"
"0000077662" "00077486" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;DHPLC" "DNA" "" "APEX"
"0000077663" "00077487" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;DHPLC" "DNA" "" "APEX"
"0000077664" "00077488" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;DHPLC" "DNA" "" "APEX"
"0000077665" "00077489" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;DHPLC" "DNA" "" "APEX"
"0000077666" "00077490" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;DHPLC" "DNA" "" "APEX"
"0000077667" "00077491" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;DHPLC" "DNA" "" "APEX"
"0000077668" "00077492" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;DHPLC" "DNA" "" "APEX"
"0000077669" "00077493" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;DHPLC" "DNA" "" "APEX"
"0000077670" "00077494" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;DHPLC" "DNA" "" "APEX"
"0000077671" "00077495" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;DHPLC" "DNA" "" "APEX"
"0000077672" "00077496" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;DHPLC" "DNA" "" "APEX"
"0000077673" "00077497" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;DHPLC" "DNA" "" "APEX"
"0000077674" "00077498" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;DHPLC" "DNA" "" "APEX"
"0000077675" "00077499" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;DHPLC" "DNA" "" "APEX"
"0000077676" "00077500" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;DHPLC" "DNA" "" "APEX"
"0000077677" "00077501" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;DHPLC" "DNA" "" "APEX"
"0000077678" "00077502" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;DHPLC" "DNA" "" "APEX"
"0000077679" "00077503" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;DHPLC" "DNA" "" "APEX"
"0000077680" "00077504" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;DHPLC" "DNA" "" "APEX"
"0000077681" "00077505" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;DHPLC" "DNA" "" "APEX"
"0000077682" "00077506" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;DHPLC" "DNA" "" "APEX"
"0000077683" "00077507" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;DHPLC" "DNA" "" "APEX"
"0000077684" "00077508" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;DHPLC" "DNA" "" "APEX"
"0000077685" "00077509" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;DHPLC" "DNA" "" "APEX"
"0000077686" "00077510" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;DHPLC" "DNA" "" "APEX"
"0000077687" "00077511" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;DHPLC" "DNA" "" "APEX"
"0000077688" "00077512" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;DHPLC" "DNA" "" "APEX"
"0000077689" "00077513" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;DHPLC" "DNA" "" "APEX"
"0000077690" "00077514" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;DHPLC" "DNA" "" "APEX"
"0000077691" "00077515" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;DHPLC" "DNA" "" "APEX"
"0000077692" "00077516" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;DHPLC" "DNA" "" "APEX"
"0000077693" "00077517" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;DHPLC" "DNA" "" "APEX"
"0000077694" "00077518" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;DHPLC" "DNA" "" "APEX"
"0000077695" "00077519" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;DHPLC" "DNA" "" "APEX"
"0000077696" "00077520" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;DHPLC" "DNA" "" "APEX"
"0000077697" "00077521" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;DHPLC" "DNA" "" "APEX"
"0000077698" "00077522" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;DHPLC" "DNA" "" "APEX"
"0000077699" "00077523" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;DHPLC" "DNA" "" "APEX"
"0000077700" "00077524" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;DHPLC" "DNA" "" "APEX"
"0000077701" "00077525" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;DHPLC" "DNA" "" "APEX"
"0000077702" "00077526" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077703" "00077527" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077704" "00077528" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077705" "00077529" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077706" "00077530" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077707" "00077531" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077708" "00077532" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077709" "00077533" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077710" "00077534" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077711" "00077535" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077712" "00077536" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077713" "00077537" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077714" "00077538" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077715" "00077539" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077716" "00077540" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077717" "00077541" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077718" "00077542" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077719" "00077543" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077720" "00077544" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077721" "00077545" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077722" "00077546" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077723" "00077547" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077724" "00077548" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077725" "00077549" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077726" "00077550" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077727" "00077551" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077728" "00077552" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077729" "00077553" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077730" "00077554" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077731" "00077555" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077732" "00077556" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077733" "00077557" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077734" "00077558" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077735" "00077559" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077736" "00077560" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077737" "00077561" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077738" "00077562" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077739" "00077563" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077740" "00077564" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077741" "00077565" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077742" "00077566" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077743" "00077567" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077744" "00077568" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077745" "00077569" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077746" "00077570" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077747" "00077571" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077748" "00077572" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077749" "00077573" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077750" "00077574" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077751" "00077575" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077752" "00077576" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077753" "00077577" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077754" "00077578" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077755" "00077579" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077756" "00077580" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077757" "00077581" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077758" "00077582" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077759" "00077583" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077760" "00077584" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077761" "00077585" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077762" "00077586" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077763" "00077587" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077764" "00077588" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077765" "00077589" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077766" "00077590" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077767" "00077591" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077768" "00077592" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077769" "00077593" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077770" "00077594" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077771" "00077595" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077772" "00077596" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077773" "00077597" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077774" "00077598" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077775" "00077599" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077776" "00077600" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077777" "00077601" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077778" "00077602" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077779" "00077603" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077780" "00077604" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077781" "00077605" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077782" "00077606" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077783" "00077607" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077784" "00077608" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077785" "00077609" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077786" "00077610" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077787" "00077611" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077788" "00077612" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077789" "00077613" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077790" "00077614" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077791" "00077615" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077792" "00077616" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077793" "00077617" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077794" "00077618" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077795" "00077619" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077796" "00077620" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077797" "00077621" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077798" "00077622" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077799" "00077623" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077800" "00077624" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077801" "00077625" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077802" "00077626" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077803" "00077627" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077804" "00077628" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077805" "00077629" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077806" "00077630" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077807" "00077631" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077808" "00077632" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077809" "00077633" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077810" "00077634" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077811" "00077635" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077812" "00077636" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077813" "00077637" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077814" "00077638" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077815" "00077639" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077816" "00077640" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077817" "00077641" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077818" "00077642" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077819" "00077643" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077820" "00077644" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077821" "00077645" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077822" "00077646" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077823" "00077647" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077824" "00077648" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077825" "00077649" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077826" "00077650" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077827" "00077651" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077828" "00077652" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077829" "00077653" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077830" "00077654" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077831" "00077655" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077832" "00077656" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077833" "00077657" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077834" "00077658" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077835" "00077659" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077836" "00077660" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077837" "00077661" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077838" "00077662" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077839" "00077663" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077840" "00077664" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077841" "00077665" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077842" "00077666" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077843" "00077667" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077844" "00077668" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077845" "00077669" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077846" "00077670" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077847" "00077671" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077848" "00077672" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077849" "00077673" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077850" "00077674" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077851" "00077675" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077852" "00077676" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077853" "00077677" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077854" "00077678" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077855" "00077679" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077856" "00077680" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077857" "00077681" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077858" "00077682" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077859" "00077683" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077860" "00077684" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077861" "00077685" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077862" "00077686" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077863" "00077687" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077864" "00077688" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077865" "00077689" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077866" "00077690" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077867" "00077691" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077868" "00077692" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077869" "00077693" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077870" "00077694" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077871" "00077695" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077872" "00077696" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077873" "00077697" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077874" "00077698" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077875" "00077699" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077876" "00077700" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077877" "00077701" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077878" "00077702" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077879" "00077703" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077880" "00077704" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077881" "00077705" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077882" "00077706" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077883" "00077707" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077884" "00077708" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077885" "00077709" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077886" "00077710" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077887" "00077711" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077888" "00077712" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077889" "00077713" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077890" "00077714" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077891" "00077715" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077892" "00077716" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077893" "00077717" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077894" "00077718" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077895" "00077719" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077896" "00077720" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077897" "00077721" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077898" "00077722" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077899" "00077723" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077900" "00077724" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077901" "00077725" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077902" "00077726" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077903" "00077727" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077904" "00077728" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077905" "00077729" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077906" "00077730" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077907" "00077731" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077908" "00077732" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077909" "00077733" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077910" "00077734" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077911" "00077735" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;DHPLC;MCA;SEQ;MLPA;SEQ-NG" "DNA" "" "APEX"
"0000077912" "00077736" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ-NG;SEQ" "DNA" "" "APEX"
"0000077913" "00077737" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ-NG;SEQ" "DNA" "" "APEX"
"0000077914" "00077738" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ-NG;SEQ" "DNA" "" "APEX"
"0000077915" "00077739" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ-NG;SEQ" "DNA" "" "APEX"
"0000077916" "00077740" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ-NG;SEQ" "DNA" "" "APEX"
"0000077917" "00077741" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ-NG;SEQ" "DNA" "" "APEX"
"0000077918" "00077742" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ-NG;SEQ" "DNA" "" "APEX"
"0000077919" "00077743" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ-NG;SEQ" "DNA" "" "APEX"
"0000077920" "00077744" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ-NG;SEQ" "DNA" "" "APEX"
"0000077921" "00077745" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ-NG;SEQ" "DNA" "" "APEX"
"0000077922" "00077746" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ-NG;SEQ" "DNA" "" "APEX"
"0000077923" "00077747" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ-NG;SEQ" "DNA" "" "APEX"
"0000077924" "00077748" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ-NG;SEQ" "DNA" "" "APEX"
"0000077925" "00077749" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ-NG;SEQ" "DNA" "" "APEX"
"0000077926" "00077750" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ-NG;SEQ" "DNA" "" "APEX"
"0000077927" "00077751" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ-NG;SEQ" "DNA" "" "APEX"
"0000077928" "00077752" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ-NG;SEQ" "DNA" "" "APEX"
"0000077929" "00077753" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ-NG;SEQ" "DNA" "" "APEX"
"0000077930" "00077754" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG;PCR;SEQ" "DNA" "" ""
"0000077931" "00077755" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000077932" "00077756" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000077933" "00077757" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000077934" "00077758" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000077935" "00077759" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000077936" "00077760" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000077937" "00077761" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000077938" "00077762" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000077939" "00077763" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000077940" "00077764" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000077941" "00077765" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000077942" "00077766" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000077943" "00077767" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000077944" "00077768" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ" "DNA" "" ""
"0000077945" "00077769" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077946" "00077770" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077947" "00077771" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077948" "00077772" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077949" "00077773" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077950" "00077774" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077951" "00077775" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077952" "00077776" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077953" "00077777" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077954" "00077778" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077955" "00077779" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077956" "00077780" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077957" "00077781" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077958" "00077782" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077959" "00077783" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077960" "00077784" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077961" "00077785" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077962" "00077786" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077963" "00077787" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077964" "00077788" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077965" "00077789" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077966" "00077790" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077967" "00077791" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077968" "00077792" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077969" "00077793" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077970" "00077794" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077971" "00077795" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077972" "00077796" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077973" "00077797" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077974" "00077798" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077975" "00077799" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077976" "00077800" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077977" "00077801" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077978" "00077802" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077979" "00077803" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077980" "00077804" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077981" "00077805" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077982" "00077806" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000077983" "00077807" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;SEQ-NG-R" "DNA" "" "APEX"
"0000077984" "00077808" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;SEQ-NG-R" "DNA" "" "APEX"
"0000077985" "00077809" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;SEQ-NG-R" "DNA" "" "APEX"
"0000077986" "00077810" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;SEQ-NG-R" "DNA" "" "APEX"
"0000077987" "00077811" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;SEQ-NG-R" "DNA" "" "APEX"
"0000077988" "00077812" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;SEQ-NG-R" "DNA" "" "APEX"
"0000077989" "00077813" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;SEQ-NG-R" "DNA" "" "APEX"
"0000077990" "00077814" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;SEQ-NG-R" "DNA" "" "APEX"
"0000077991" "00077815" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;SEQ-NG-R" "DNA" "" "APEX"
"0000077992" "00077816" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;SEQ-NG-R" "DNA" "" "APEX"
"0000077993" "00077817" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;SEQ-NG-R" "DNA" "" "APEX"
"0000077994" "00077818" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;SEQ-NG-R" "DNA" "" "APEX"
"0000077995" "00077819" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;SEQ-NG-R" "DNA" "" "APEX"
"0000077996" "00077820" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;SEQ-NG-R" "DNA" "" "APEX"
"0000077997" "00077821" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;SEQ-NG-R" "DNA" "" "APEX"
"0000077998" "00077822" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;SEQ-NG-R" "DNA" "" "APEX"
"0000077999" "00077823" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;SEQ-NG-R" "DNA" "" "APEX"
"0000078000" "00077824" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;SEQ-NG-R" "DNA" "" "APEX"
"0000078001" "00077825" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;SEQ-NG-R" "DNA" "" "APEX"
"0000078002" "00077826" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;SEQ-NG-R" "DNA" "" "APEX"
"0000078003" "00077827" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;SEQ-NG-R" "DNA" "" "APEX"
"0000078004" "00077828" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;SEQ-NG-R" "DNA" "" "APEX"
"0000078005" "00077829" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;SEQ-NG-R" "DNA" "" "APEX"
"0000078006" "00077830" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;SEQ-NG-R" "DNA" "" "APEX"
"0000078007" "00077831" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;SEQ-NG-R" "DNA" "" "APEX"
"0000078008" "00077832" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;SEQ-NG-R" "DNA" "" "APEX"
"0000078009" "00077833" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;SEQ-NG-R" "DNA" "" "APEX"
"0000078010" "00077834" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;SEQ-NG-R" "DNA" "" "APEX"
"0000078011" "00077835" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;SEQ-NG-R" "DNA" "" "APEX"
"0000078012" "00077836" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;SEQ-NG-R" "DNA" "" "APEX"
"0000078013" "00077837" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;SEQ-NG-R" "DNA" "" "APEX"
"0000078014" "00077838" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;SEQ-NG-R" "DNA" "" "APEX"
"0000078015" "00077839" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;SEQ-NG-R" "DNA" "" "APEX"
"0000078016" "00077840" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;SEQ-NG-R" "DNA" "" "APEX"
"0000078017" "00077841" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;SEQ-NG-R" "DNA" "" "APEX"
"0000078018" "00077842" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;SEQ-NG-R" "DNA" "" "APEX"
"0000078019" "00077843" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;SEQ-NG-R" "DNA" "" "APEX"
"0000078020" "00077844" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;SEQ-NG-R" "DNA" "" "APEX"
"0000078021" "00077845" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;SEQ-NG-R" "DNA" "" "APEX"
"0000078022" "00077846" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;SEQ-NG-R" "DNA" "" "APEX"
"0000078023" "00077847" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;SEQ-NG-R" "DNA" "" "APEX"
"0000078024" "00077848" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;SEQ-NG-R" "DNA" "" "APEX"
"0000078025" "00077849" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;SEQ-NG-R" "DNA" "" "APEX"
"0000078026" "00077850" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;SEQ-NG-R" "DNA" "" "APEX"
"0000078027" "00077851" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;SEQ-NG-R" "DNA" "" "APEX"
"0000078028" "00077852" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;SEQ-NG-R" "DNA" "" "APEX"
"0000078029" "00077853" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;SEQ-NG-R" "DNA" "" "APEX"
"0000078030" "00077854" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;SEQ-NG-R" "DNA" "" "APEX"
"0000078031" "00077855" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;SEQ-NG-R" "DNA" "" "APEX"
"0000078032" "00077856" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;SEQ-NG-R" "DNA" "" "APEX"
"0000078033" "00077857" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;SEQ-NG-R" "DNA" "" "APEX"
"0000078034" "00077858" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;SEQ-NG-R" "DNA" "" "APEX"
"0000078035" "00077859" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;SEQ-NG-R" "DNA" "" "APEX"
"0000078036" "00077860" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;SEQ-NG-R" "DNA" "" "APEX"
"0000078037" "00077861" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;SEQ-NG-R" "DNA" "" "APEX"
"0000078038" "00077862" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;SEQ-NG-R" "DNA" "" "APEX"
"0000078039" "00077863" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;SEQ-NG-R" "DNA" "" "APEX"
"0000078040" "00077864" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;SEQ-NG-R" "DNA" "" "APEX"
"0000078041" "00077865" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;SEQ-NG-R" "DNA" "" "APEX"
"0000078042" "00077866" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;SEQ-NG-R" "DNA" "" "APEX"
"0000078043" "00077867" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;SEQ-NG-R" "DNA" "" "APEX"
"0000078044" "00077868" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;SEQ-NG-R" "DNA" "" "APEX"
"0000078045" "00077869" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;SEQ-NG-R" "DNA" "" "APEX"
"0000078046" "00077870" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;SEQ-NG-R" "DNA" "" "APEX"
"0000078047" "00077871" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;SEQ-NG-R" "DNA" "" "APEX"
"0000078048" "00077872" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;SEQ-NG-R" "DNA" "" "APEX"
"0000078049" "00077873" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;SEQ-NG-R" "DNA" "" "APEX"
"0000078050" "00077874" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;SEQ-NG-R" "DNA" "" "APEX"
"0000078051" "00077875" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;SEQ-NG-R" "DNA" "" "APEX"
"0000078052" "00077876" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;SEQ-NG-R" "DNA" "" "APEX"
"0000078053" "00077877" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;SEQ-NG-R" "DNA" "" "APEX"
"0000078054" "00077878" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;SEQ-NG-R" "DNA" "" "APEX"
"0000078055" "00077879" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;SEQ-NG-R" "DNA" "" "APEX"
"0000078056" "00077880" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;SEQ-NG-R" "DNA" "" "APEX"
"0000078057" "00077881" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;SEQ-NG-R" "DNA" "" "APEX"
"0000078058" "00077882" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;SEQ-NG-R" "DNA" "" "APEX"
"0000078059" "00077883" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;SEQ-NG-R" "DNA" "" "APEX"
"0000078060" "00077884" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;SEQ-NG-R" "DNA" "" "APEX"
"0000078061" "00077885" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;PCR;SEQ;SEQ-NG-R" "DNA" "" "APEX"
"0000078062" "00077886" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "SSCA;PE" "DNA" "" "APEX"
"0000078063" "00077887" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "SSCA;PE" "DNA" "" "APEX"
"0000078064" "00077888" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "SSCA;PE" "DNA" "" "APEX"
"0000078065" "00077889" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "SSCA;PE" "DNA" "" "APEX"
"0000078066" "00077890" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "SSCA;PE" "DNA" "" "APEX"
"0000078067" "00077891" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "SSCA;PE" "DNA" "" "APEX"
"0000078068" "00077892" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "SSCA;PE" "DNA" "" "APEX"
"0000078069" "00077893" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "SSCA;PE" "DNA" "" "APEX"
"0000078070" "00077894" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "SSCA;PE" "DNA" "" "APEX"
"0000078071" "00077895" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "SSCA;PE" "DNA" "" "APEX"
"0000078072" "00077896" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "SSCA;PE" "DNA" "" "APEX"
"0000078073" "00077897" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "SSCA;PE" "DNA" "" "APEX"
"0000078074" "00077898" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "SSCA;PE" "DNA" "" "APEX"
"0000078075" "00077899" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "SSCA;PE" "DNA" "" "APEX"
"0000078076" "00077900" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "SSCA;PE" "DNA" "" "APEX"
"0000078077" "00077901" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "SSCA;PE" "DNA" "" "APEX"
"0000078078" "00077902" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "SSCA;PE" "DNA" "" "APEX"
"0000078079" "00077903" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "SSCA;PE" "DNA" "" "APEX"
"0000078080" "00077904" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "SSCA;PE" "DNA" "" "APEX"
"0000078081" "00077905" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "SSCA;PE" "DNA" "" "APEX"
"0000078082" "00077906" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "SSCA;PE" "DNA" "" "APEX"
"0000078083" "00077907" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "SSCA;PE" "DNA" "" "APEX"
"0000078084" "00077908" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "SSCA;PE" "DNA" "" "APEX"
"0000078085" "00077909" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "SSCA;PE" "DNA" "" "APEX"
"0000078086" "00077910" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "SSCA;PE" "DNA" "" "APEX"
"0000078087" "00077911" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "SSCA;PE" "DNA" "" "APEX"
"0000078088" "00077912" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "SSCA;PE" "DNA" "" "APEX"
"0000078089" "00077913" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "SSCA;PE" "DNA" "" "APEX"
"0000078090" "00077914" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "SSCA;PE" "DNA" "" "APEX"
"0000078091" "00077915" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "SSCA;PE" "DNA" "" "APEX"
"0000078092" "00077916" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "SSCA;PE" "DNA" "" "APEX"
"0000078093" "00077917" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "SSCA;PE" "DNA" "" "APEX"
"0000078094" "00077918" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "SSCA;PE" "DNA" "" "APEX"
"0000078095" "00077919" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "SSCA;PE" "DNA" "" "APEX"
"0000078096" "00077920" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "SSCA;PE" "DNA" "" "APEX"
"0000078097" "00077921" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "SSCA;PE" "DNA" "" "APEX"
"0000078098" "00077922" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "SSCA;PE" "DNA" "" "APEX"
"0000078099" "00077923" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "SSCA;PE" "DNA" "" "APEX"
"0000078100" "00077924" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "SSCA;PE" "DNA" "" "APEX"
"0000078101" "00077925" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "SSCA;PE" "DNA" "" "APEX"
"0000078102" "00077926" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "SSCA;PE" "DNA" "" "APEX"
"0000078103" "00077927" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "SSCA;PE" "DNA" "" "APEX"
"0000078104" "00077928" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "SSCA;PE" "DNA" "" "APEX"
"0000078105" "00077929" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "SSCA;PE" "DNA" "" "APEX"
"0000078106" "00077930" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "SSCA;PE" "DNA" "" "APEX"
"0000078107" "00077931" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "SSCA;PE" "DNA" "" "APEX"
"0000078108" "00077932" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "SSCA;PE" "DNA" "" "APEX"
"0000078109" "00077933" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "SSCA;PE" "DNA" "" "APEX"
"0000078110" "00077934" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "SSCA;PE" "DNA" "" "APEX"
"0000078111" "00077935" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "SSCA;PE" "DNA" "" "APEX"
"0000078112" "00077936" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "SSCA;PE" "DNA" "" "APEX"
"0000078113" "00077937" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000078114" "00077938" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000078115" "00077939" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000078116" "00077940" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000078117" "00077941" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000078118" "00077942" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000078119" "00077943" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000078120" "00077944" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000078121" "00077945" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;SEQ" "DNA" "" "APEX"
"0000078122" "00077946" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;SEQ" "DNA" "" "APEX"
"0000078123" "00077947" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;SEQ" "DNA" "" "APEX"
"0000078124" "00077948" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;SEQ" "DNA" "" "APEX"
"0000078125" "00077949" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;SEQ" "DNA" "" "APEX"
"0000078126" "00077950" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;SEQ" "DNA" "" "APEX"
"0000078127" "00077951" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;SEQ" "DNA" "" "APEX"
"0000078128" "00077952" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;SEQ" "DNA" "" "APEX"
"0000078129" "00077953" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;SEQ" "DNA" "" "APEX"
"0000078130" "00077954" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;SEQ" "DNA" "" "APEX"
"0000078131" "00077955" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;SEQ" "DNA" "" "APEX"
"0000078132" "00077956" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;SEQ" "DNA" "" "APEX"
"0000078133" "00077957" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;SEQ" "DNA" "" "APEX"
"0000078134" "00077958" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;SEQ" "DNA" "" "APEX"
"0000078135" "00077959" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;SEQ" "DNA" "" "APEX"
"0000078136" "00077960" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;SEQ" "DNA" "" "APEX"
"0000078137" "00077961" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;SEQ" "DNA" "" "APEX"
"0000078138" "00077962" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;SEQ" "DNA" "" "APEX"
"0000078139" "00077963" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;SEQ" "DNA" "" "APEX"
"0000078140" "00077964" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;SEQ" "DNA" "" "APEX"
"0000078141" "00077965" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;SEQ" "DNA" "" "APEX"
"0000078142" "00077966" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;SEQ" "DNA" "" "APEX"
"0000078143" "00077967" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;SEQ" "DNA" "" "APEX"
"0000078144" "00077968" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;SEQ" "DNA" "" "APEX"
"0000078145" "00077969" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;SEQ" "DNA" "" "APEX"
"0000078146" "00077970" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PCR;PE;SEQ" "DNA" "" "APEX"
"0000078147" "00077971" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;SEQ" "DNA" "" ""
"0000078148" "00077972" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;PCR;SEQ" "DNA" "" ""
"0000078149" "00077973" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;PCR;SEQ" "DNA" "" ""
"0000078150" "00077974" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ;SEQ-NG-R" "DNA" "" "APEX"
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"0000078155" "00077979" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ;SEQ-NG-R" "DNA" "" "APEX"
"0000078156" "00077980" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ;SEQ-NG-R" "DNA" "" "APEX"
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"0000078158" "00077982" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ;SEQ-NG-R" "DNA" "" "APEX"
"0000078159" "00077983" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ;SEQ-NG-R" "DNA" "" "APEX"
"0000078160" "00077984" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ;SEQ-NG-R" "DNA" "" "APEX"
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"0000078162" "00077986" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ;SEQ-NG-R" "DNA" "" "APEX"
"0000078163" "00077987" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ;SEQ-NG-R" "DNA" "" "APEX"
"0000078164" "00077988" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ;SEQ-NG-R" "DNA" "" "APEX"
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"0000078188" "00078012" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ;SEQ-NG-R" "DNA" "" "APEX"
"0000078189" "00078013" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "arrayCGH;SEQ-NG-R;SEQ-NG-I;SEQ" "DNA" "" ""
"0000078190" "00078014" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "arrayCGH;SEQ-NG-R;SEQ-NG-I;SEQ" "DNA" "" ""
"0000078191" "00078015" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "arrayCGH;SEQ-NG-R;SEQ-NG-I;SEQ" "DNA" "" ""
"0000078192" "00078016" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "arrayCGH;SEQ-NG-R;SEQ-NG-I;SEQ" "DNA" "" ""
"0000078193" "00078017" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "arrayCGH;SEQ-NG-R;SEQ-NG-I;SEQ" "DNA" "" ""
"0000078194" "00078018" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "arrayCGH;SEQ-NG-R;SEQ-NG-I;SEQ" "DNA" "" ""
"0000078195" "00078019" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ;SEQ-NG-I" "DNA" "" ""
"0000078196" "00078020" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ;SEQ-NG-I" "DNA" "" ""
"0000078197" "00078021" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ;SEQ-NG-I" "DNA" "" ""
"0000078198" "00078022" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ;SEQ-NG-I" "DNA" "" ""
"0000078199" "00078023" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ;SEQ-NG-I" "DNA" "" ""
"0000078200" "00078024" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ;SEQ-NG-I" "DNA" "" ""
"0000078201" "00078025" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ;SEQ-NG-I" "DNA" "" ""
"0000078202" "00078026" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ;SEQ-NG-I" "DNA" "" ""
"0000078203" "00078027" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ;SEQ-NG-I" "DNA" "" ""
"0000078204" "00078028" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ;SEQ-NG-I" "DNA" "" ""
"0000078205" "00078029" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ;SEQ-NG-I" "DNA" "" ""
"0000078206" "00078030" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ;SEQ-NG-I" "DNA" "" ""
"0000078207" "00078031" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ;SEQ-NG-I" "DNA" "" ""
"0000078208" "00078032" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ;SEQ-NG-I" "DNA" "" ""
"0000078209" "00078033" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ;SEQ-NG-I" "DNA" "" ""
"0000078210" "00078034" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ;SEQ-NG-I" "DNA" "" ""
"0000078211" "00078035" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ;SEQ-NG-I" "DNA" "" ""
"0000078212" "00078036" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ;SEQ-NG-I" "DNA" "" ""
"0000078213" "00078037" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ;SEQ-NG-I" "DNA" "" ""
"0000078214" "00078038" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ;SEQ-NG-I" "DNA" "" ""
"0000078215" "00078039" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ;SEQ-NG-I" "DNA" "" ""
"0000078216" "00078040" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ;SEQ-NG-I" "DNA" "" ""
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"0000078219" "00078043" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ;SEQ-NG-I" "DNA" "" ""
"0000078220" "00078044" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ;SEQ-NG-I" "DNA" "" ""
"0000078221" "00078045" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ;SEQ-NG-I" "DNA" "" ""
"0000078222" "00078046" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ;SEQ-NG-I" "DNA" "" ""
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"0000078224" "00078048" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ;SEQ-NG-I" "DNA" "" ""
"0000078225" "00078049" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ;SEQ-NG-I" "DNA" "" ""
"0000078226" "00078050" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ;SEQ-NG-I" "DNA" "" ""
"0000078227" "00078051" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ;SEQ-NG-I" "DNA" "" ""
"0000078228" "00078052" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ;SEQ-NG-I" "DNA" "" ""
"0000078229" "00078053" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ;SEQ-NG-I" "DNA" "" ""
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"0000078231" "00078055" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ;SEQ-NG-I" "DNA" "" ""
"0000078232" "00078056" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ;SEQ-NG-I" "DNA" "" ""
"0000078233" "00078057" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ;SEQ-NG-I" "DNA" "" ""
"0000078234" "00078058" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ;SEQ-NG-I" "DNA" "" ""
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"0000078236" "00078060" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ;SEQ-NG-I" "DNA" "" ""
"0000078237" "00078061" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ;SEQ-NG-I" "DNA" "" ""
"0000078238" "00078062" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ;SEQ-NG-I" "DNA" "" ""
"0000078239" "00078063" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;PCR;SEQ" "DNA" "" ""
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"0000078242" "00078066" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;PCR;SEQ" "DNA" "" ""
"0000078243" "00078067" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;PCR;SEQ" "DNA" "" ""
"0000078244" "00078068" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;PCR;SEQ" "DNA" "" ""
"0000078245" "00078069" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;PCR;SEQ" "DNA" "" ""
"0000078246" "00078070" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;PCR;SEQ" "DNA" "" ""
"0000078247" "00078071" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;PCR;SEQ" "DNA" "" ""
"0000078248" "00078072" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;PCR;SEQ" "DNA" "" ""
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"0000078250" "00078074" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;PCR;SEQ" "DNA" "" ""
"0000078251" "00078075" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;PCR;SEQ" "DNA" "" ""
"0000078252" "00078076" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;PCR;SEQ" "DNA" "" ""
"0000078253" "00078077" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;PCR;SEQ" "DNA" "" ""
"0000078254" "00078078" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;PCR;SEQ" "DNA" "" ""
"0000078255" "00078079" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;PCR;SEQ" "DNA" "" ""
"0000078256" "00078080" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;PCR;SEQ" "DNA" "" ""
"0000078257" "00078081" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;PCR;SEQ" "DNA" "" ""
"0000078258" "00078082" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;PCR;SEQ" "DNA" "" ""
"0000078259" "00078083" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;PCR;SEQ" "DNA" "" ""
"0000078260" "00078084" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;PCR;SEQ" "DNA" "" ""
"0000078261" "00078085" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;PCR;SEQ" "DNA" "" ""
"0000078262" "00078086" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;PCR;SEQ" "DNA" "" ""
"0000078263" "00078087" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;PCR;SEQ" "DNA" "" ""
"0000078264" "00078088" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;PCR;SEQ" "DNA" "" ""
"0000078265" "00078089" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;PCR;SEQ" "DNA" "" ""
"0000078266" "00078090" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;PCR;SEQ" "DNA" "" ""
"0000078267" "00078091" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;PCR;SEQ" "DNA" "" ""
"0000078268" "00078092" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;PCR;SEQ" "DNA" "" ""
"0000078269" "00078093" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;PCR;SEQ" "DNA" "" ""
"0000078270" "00078094" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;PCR;SEQ" "DNA" "" ""
"0000078271" "00078095" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;PCR;SEQ" "DNA" "" ""
"0000078272" "00078096" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;PCR;SEQ" "DNA" "" ""
"0000078273" "00078097" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;PCR;SEQ" "DNA" "" ""
"0000078274" "00078098" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;PCR;SEQ" "DNA" "" ""
"0000078275" "00078099" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;PCR;SEQ" "DNA" "" ""
"0000078276" "00078100" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;PCR;SEQ" "DNA" "" ""
"0000078277" "00078101" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;PCR;SEQ" "DNA" "" ""
"0000078278" "00078102" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;PCR;SEQ" "DNA" "" ""
"0000078279" "00078103" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;PCR;SEQ" "DNA" "" ""
"0000078280" "00078104" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;PCR;SEQ" "DNA" "" ""
"0000078281" "00078105" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;PCR;SEQ" "DNA" "" ""
"0000078282" "00078106" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;PCR;SEQ" "DNA" "" ""
"0000078283" "00078107" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;PCR;SEQ" "DNA" "" ""
"0000078284" "00078108" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;PCR;SEQ" "DNA" "" ""
"0000078285" "00078109" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;PCR;SEQ" "DNA" "" ""
"0000078286" "00078110" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;PCR;SEQ" "DNA" "" ""
"0000078287" "00078111" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;PCR;SEQ" "DNA" "" ""
"0000078288" "00078112" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;PCR;SEQ" "DNA" "" ""
"0000078289" "00078113" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;PCR;SEQ" "DNA" "" ""
"0000078290" "00078114" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;PCR;SEQ" "DNA" "" ""
"0000078291" "00078115" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;PCR;SEQ" "DNA" "" ""
"0000078292" "00078116" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;PCR;SEQ" "DNA" "" ""
"0000078293" "00078117" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;PCR;SEQ" "DNA" "" ""
"0000078294" "00078118" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;PCR;SEQ" "DNA" "" ""
"0000078295" "00078119" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;PCR;SEQ" "DNA" "" ""
"0000078296" "00078120" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;PCR;SEQ" "DNA" "" ""
"0000078297" "00078121" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;PCR;SEQ" "DNA" "" ""
"0000078298" "00078122" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;PCR;SEQ" "DNA" "" ""
"0000078299" "00078123" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;PCR;SEQ" "DNA" "" ""
"0000078300" "00078124" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;PCR;SEQ" "DNA" "" ""
"0000078301" "00078125" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;PCR;SEQ" "DNA" "" ""
"0000078302" "00078126" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;MLPA;SEQ" "DNA" "" "APEX"
"0000078303" "00078127" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;MLPA;SEQ" "DNA" "" "APEX"
"0000078304" "00078128" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;MLPA;SEQ" "DNA" "" "APEX"
"0000078305" "00078129" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;MLPA;SEQ" "DNA" "" "APEX"
"0000078306" "00078130" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;MLPA;SEQ" "DNA" "" "APEX"
"0000078307" "00078131" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;MLPA;SEQ" "DNA" "" "APEX"
"0000078308" "00078132" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;MLPA;SEQ" "DNA" "" "APEX"
"0000078309" "00078133" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;MLPA;SEQ" "DNA" "" "APEX"
"0000078310" "00078134" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;MLPA;SEQ" "DNA" "" "APEX"
"0000078311" "00078135" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;MLPA;SEQ" "DNA" "" "APEX"
"0000078312" "00078136" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;MLPA;SEQ" "DNA" "" "APEX"
"0000078313" "00078137" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;MLPA;SEQ" "DNA" "" "APEX"
"0000078314" "00078138" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;MLPA;SEQ" "DNA" "" "APEX"
"0000078315" "00078139" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;MLPA;SEQ" "DNA" "" "APEX"
"0000078316" "00078140" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;MLPA;SEQ" "DNA" "" "APEX"
"0000078317" "00078141" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;MLPA;SEQ" "DNA" "" "APEX"
"0000078318" "00078142" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;MLPA;SEQ" "DNA" "" "APEX"
"0000078319" "00078143" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;MLPA;SEQ" "DNA" "" "APEX"
"0000078320" "00078144" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;MLPA;SEQ" "DNA" "" "APEX"
"0000078321" "00078145" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;MLPA;SEQ" "DNA" "" "APEX"
"0000078322" "00078146" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;MLPA;SEQ" "DNA" "" "APEX"
"0000078323" "00078147" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;MLPA;SEQ" "DNA" "" "APEX"
"0000078324" "00078148" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;MLPA;SEQ" "DNA" "" "APEX"
"0000078325" "00078149" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;MLPA;SEQ" "DNA" "" "APEX"
"0000078326" "00078150" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;MLPA;SEQ" "DNA" "" "APEX"
"0000078327" "00078151" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;MLPA;SEQ" "DNA" "" "APEX"
"0000078328" "00078152" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;MLPA;SEQ" "DNA" "" "APEX"
"0000078329" "00078153" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;MLPA;SEQ" "DNA" "" "APEX"
"0000078330" "00078154" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;MLPA;SEQ" "DNA" "" "APEX"
"0000078331" "00078155" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;MLPA;SEQ" "DNA" "" "APEX"
"0000078332" "00078156" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;MLPA;SEQ" "DNA" "" "APEX"
"0000078333" "00078157" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;MLPA;SEQ" "DNA" "" "APEX"
"0000078334" "00078158" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;MLPA;SEQ" "DNA" "" "APEX"
"0000078335" "00078159" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;MLPA;SEQ" "DNA" "" "APEX"
"0000078336" "00078160" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;MLPA;SEQ" "DNA" "" "APEX"
"0000078337" "00078161" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;MLPA;SEQ" "DNA" "" "APEX"
"0000078338" "00078162" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;MLPA;SEQ" "DNA" "" "APEX"
"0000078339" "00078163" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;MLPA;SEQ" "DNA" "" "APEX"
"0000078340" "00078164" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;MLPA;SEQ" "DNA" "" "APEX"
"0000078341" "00078165" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;MLPA;SEQ" "DNA" "" "APEX"
"0000078342" "00078166" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;MLPA;SEQ" "DNA" "" "APEX"
"0000078343" "00078167" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;MLPA;SEQ" "DNA" "" "APEX"
"0000078344" "00078168" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;MLPA;SEQ" "DNA" "" "APEX"
"0000078345" "00078169" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;MLPA;SEQ" "DNA" "" "APEX"
"0000078346" "00078170" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;MLPA;SEQ" "DNA" "" "APEX"
"0000078347" "00078171" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;SEQ;arrayCGH" "DNA" "" ""
"0000078348" "00078172" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;SEQ;arrayCGH" "DNA" "" ""
"0000078349" "00078173" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;SEQ;arrayCGH" "DNA" "" ""
"0000078350" "00078174" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;SEQ;arrayCGH" "DNA" "" ""
"0000078351" "00078175" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;SEQ;arrayCGH" "DNA" "" ""
"0000078352" "00078176" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;SEQ;arrayCGH" "DNA" "" ""
"0000078353" "00078177" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;SEQ;arrayCGH" "DNA" "" ""
"0000078354" "00078178" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;SEQ;arrayCGH" "DNA" "" ""
"0000078355" "00078179" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;SEQ;arrayCGH" "DNA" "" ""
"0000078356" "00078180" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;SEQ;arrayCGH" "DNA" "" ""
"0000078357" "00078181" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;SEQ;arrayCGH" "DNA" "" ""
"0000078358" "00078182" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;SEQ;arrayCGH" "DNA" "" ""
"0000078359" "00078183" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;SEQ;arrayCGH" "DNA" "" ""
"0000078360" "00078184" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;SEQ;arrayCGH" "DNA" "" ""
"0000078361" "00078185" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;SEQ;arrayCGH" "DNA" "" ""
"0000078362" "00078186" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;SEQ;arrayCGH" "DNA" "" ""
"0000078363" "00078187" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;SEQ;arrayCGH" "DNA" "" ""
"0000078364" "00078188" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;SEQ;arrayCGH" "DNA" "" ""
"0000078365" "00078189" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;SEQ;arrayCGH" "DNA" "" ""
"0000078366" "00078190" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;SEQ;arrayCGH" "DNA" "" ""
"0000078367" "00078191" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;SEQ;arrayCGH" "DNA" "" ""
"0000078368" "00078192" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;SEQ;arrayCGH" "DNA" "" ""
"0000078369" "00078193" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;SEQ;arrayCGH" "DNA" "" ""
"0000078370" "00078194" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;SEQ;arrayCGH" "DNA" "" ""
"0000078371" "00078195" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;SEQ;arrayCGH" "DNA" "" ""
"0000078372" "00078196" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;SEQ;arrayCGH" "DNA" "" ""
"0000078373" "00078197" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;SEQ;arrayCGH" "DNA" "" ""
"0000078374" "00078198" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;SEQ;arrayCGH" "DNA" "" ""
"0000078375" "00078199" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;SEQ;arrayCGH" "DNA" "" ""
"0000078376" "00078200" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;SEQ;arrayCGH" "DNA" "" ""
"0000078377" "00078201" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;SEQ;arrayCGH" "DNA" "" ""
"0000078378" "00078202" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;SEQ;arrayCGH" "DNA" "" ""
"0000078379" "00078203" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;SEQ;arrayCGH" "DNA" "" ""
"0000078380" "00078204" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;SEQ;arrayCGH" "DNA" "" ""
"0000078381" "00078205" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;SEQ;arrayCGH" "DNA" "" ""
"0000078382" "00078206" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;SEQ;arrayCGH" "DNA" "" ""
"0000078383" "00078207" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;SEQ;arrayCGH" "DNA" "" ""
"0000078384" "00078208" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;SEQ;arrayCGH" "DNA" "" ""
"0000078385" "00078209" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;SEQ;arrayCGH" "DNA" "" ""
"0000078386" "00078210" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;SEQ;arrayCGH" "DNA" "" ""
"0000078387" "00078211" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;SEQ;arrayCGH" "DNA" "" ""
"0000078388" "00078212" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;SEQ;arrayCGH" "DNA" "" ""
"0000078389" "00078213" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;SEQ;arrayCGH" "DNA" "" ""
"0000078390" "00078214" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;SEQ;arrayCGH" "DNA" "" ""
"0000078391" "00078215" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;SEQ;arrayCGH" "DNA" "" ""
"0000078392" "00078216" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;SEQ;arrayCGH" "DNA" "" ""
"0000078393" "00078217" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;SEQ;arrayCGH" "DNA" "" ""
"0000078394" "00078218" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000078395" "00078219" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000078396" "00078220" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;DGGE;arraySNP;PCRlr;SEQ-NG-I" "DNA" "" ""
"0000078397" "00078221" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;DGGE;arraySNP;PCRlr;SEQ-NG-I" "DNA" "" ""
"0000078398" "00078222" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SSCA;DGGE;arraySNP;PCRlr;SEQ-NG-I" "DNA" "" ""
"0000078399" "00078223" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;PCR;SEQ" "DNA" "" ""
"0000078400" "00078224" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;PCR;SEQ" "DNA" "" ""
"0000078401" "00078225" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;PCR;SEQ" "DNA" "" ""
"0000078402" "00078226" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;PCR;SEQ" "DNA" "" ""
"0000078403" "00078227" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;PCR;SEQ" "DNA" "" ""
"0000078404" "00078228" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ;SEQ-NG-I" "DNA" "" "APEX"
"0000078405" "00078229" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ;SEQ-NG-I" "DNA" "" "APEX"
"0000078406" "00078230" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ;SEQ-NG-I" "DNA" "" "APEX"
"0000078407" "00078231" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ;SEQ-NG-I" "DNA" "" "APEX"
"0000078408" "00078232" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ;SEQ-NG-I" "DNA" "" "APEX"
"0000078409" "00078233" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ;SEQ-NG-I" "DNA" "" "APEX"
"0000078410" "00078234" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ;SEQ-NG-I" "DNA" "" "APEX"
"0000078411" "00078235" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ;SEQ-NG-I" "DNA" "" "APEX"
"0000078412" "00078236" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ;SEQ-NG-I" "DNA" "" "APEX"
"0000078413" "00078237" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ;SEQ-NG-I" "DNA" "" "APEX"
"0000078414" "00078238" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ;SEQ-NG-I" "DNA" "" "APEX"
"0000078415" "00078239" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ;SEQ-NG-I" "DNA" "" "APEX"
"0000078416" "00078240" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ;SEQ-NG-I" "DNA" "" "APEX"
"0000078417" "00078241" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ;SEQ-NG-I" "DNA" "" "APEX"
"0000078418" "00078242" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ;SEQ-NG-I" "DNA" "" "APEX"
"0000078419" "00078243" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ;SEQ-NG-I" "DNA" "" "APEX"
"0000078420" "00078244" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ;SEQ-NG-I" "DNA" "" "APEX"
"0000078421" "00078245" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;SEQ" "DNA" "" ""
"0000078422" "00078246" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;SEQ" "DNA" "" ""
"0000078423" "00078247" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;SEQ" "DNA" "" ""
"0000078424" "00078248" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;SEQ" "DNA" "" ""
"0000078425" "00078249" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;SEQ" "DNA" "" ""
"0000078426" "00078250" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;SEQ" "DNA" "" ""
"0000078427" "00078251" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;SEQ" "DNA" "" ""
"0000078428" "00078252" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;SEQ" "DNA" "" ""
"0000078429" "00078253" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;SEQ" "DNA" "" ""
"0000078430" "00078254" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;SEQ" "DNA" "" ""
"0000078431" "00078255" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;SEQ" "DNA" "" ""
"0000078432" "00078256" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;SEQ" "DNA" "" ""
"0000078433" "00078257" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;SEQ" "DNA" "" ""
"0000078434" "00078258" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;SEQ" "DNA" "" ""
"0000078435" "00078259" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;SEQ" "DNA" "" ""
"0000078436" "00078260" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;SEQ" "DNA" "" ""
"0000078437" "00078261" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;SEQ" "DNA" "" ""
"0000078438" "00078262" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;SEQ" "DNA" "" ""
"0000078439" "00078263" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;SEQ" "DNA" "" ""
"0000078440" "00078264" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;SEQ" "DNA" "" ""
"0000078441" "00078265" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;SEQ" "DNA" "" ""
"0000078442" "00078266" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;SEQ" "DNA" "" ""
"0000078443" "00078267" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;SEQ" "DNA" "" ""
"0000078444" "00078268" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;SEQ" "DNA" "" ""
"0000078445" "00078269" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "PCR;SEQ-NG" "DNA" "" ""
"0000078446" "00078270" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000078447" "00078271" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000078448" "00078272" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000078449" "00078273" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000078450" "00078274" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000078451" "00078275" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000078452" "00078276" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000078453" "00078277" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000078454" "00078278" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000078455" "00078279" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG;SEQ-NG-I" "DNA" "" ""
"0000078456" "00078280" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG;SEQ-NG-I" "DNA" "" ""
"0000078457" "00078281" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG;SEQ-NG-I" "DNA" "" ""
"0000078458" "00078282" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG;SEQ-NG-I" "DNA" "" ""
"0000078459" "00078283" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG;SEQ-NG-I" "DNA" "" ""
"0000078460" "00078284" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG;SEQ-NG-I" "DNA" "" ""
"0000078461" "00078285" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG;SEQ-NG-I" "DNA" "" ""
"0000078462" "00078286" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ" "DNA" "" ""
"0000078463" "00078287" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ" "DNA" "" ""
"0000078464" "00078288" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2018-03-24 09:00:19" "arrayCGH;PCR;RT-PCR;SEQ;SEQ-NG-I" "DNA;RNA" "" ""
"0000078465" "00078289" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;PCR;SEQ" "DNA" "" ""
"0000078466" "00078290" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;PCR;SEQ;arrayCGH" "DNA" "" ""
"0000078467" "00078291" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;PCR;SEQ" "DNA" "" ""
"0000078468" "00078292" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;PCR;SEQ;arrayCGH" "DNA" "" ""
"0000078469" "00078293" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-I;PCR;SEQ" "DNA" "" ""
"0000078470" "00078294" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-R" "DNA" "" ""
"0000078471" "00078295" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-R" "DNA" "" ""
"0000078472" "00078296" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-R" "DNA" "" ""
"0000078473" "00078297" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-R" "DNA" "" ""
"0000078474" "00078298" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-R" "DNA" "" ""
"0000078475" "00078299" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-R" "DNA" "" ""
"0000078476" "00078300" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-R" "DNA" "" ""
"0000078477" "00078301" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-R" "DNA" "" ""
"0000078478" "00078302" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-R" "DNA" "" ""
"0000078479" "00078303" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-R" "DNA" "" ""
"0000078480" "00078304" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-R" "DNA" "" ""
"0000078481" "00078305" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-R" "DNA" "" ""
"0000078482" "00078306" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-R" "DNA" "" ""
"0000078483" "00078307" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-R" "DNA" "" ""
"0000078484" "00078308" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-R" "DNA" "" ""
"0000078485" "00078309" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-R" "DNA" "" ""
"0000078486" "00078310" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-R" "DNA" "" ""
"0000078487" "00078311" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-R" "DNA" "" ""
"0000078488" "00078312" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-R" "DNA" "" ""
"0000078489" "00078313" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-R" "DNA" "" ""
"0000078490" "00078314" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-R" "DNA" "" ""
"0000078491" "00078315" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-R" "DNA" "" ""
"0000078492" "00078316" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-R" "DNA" "" ""
"0000078493" "00078317" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-R" "DNA" "" ""
"0000078494" "00078318" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-R" "DNA" "" ""
"0000078495" "00078319" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-R" "DNA" "" ""
"0000078496" "00078320" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-R" "DNA" "" ""
"0000078497" "00078321" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-R" "DNA" "" ""
"0000078498" "00078322" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-R" "DNA" "" ""
"0000078499" "00078323" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-R" "DNA" "" ""
"0000078500" "00078324" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-R" "DNA" "" ""
"0000078501" "00078325" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-R" "DNA" "" ""
"0000078502" "00078326" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-R" "DNA" "" ""
"0000078503" "00078327" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-R" "DNA" "" ""
"0000078504" "00078328" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-R" "DNA" "" ""
"0000078505" "00078329" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-R" "DNA" "" ""
"0000078506" "00078330" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-R" "DNA" "" ""
"0000078507" "00078331" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-R" "DNA" "" ""
"0000078508" "00078332" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-R" "DNA" "" ""
"0000078509" "00078333" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-R" "DNA" "" ""
"0000078510" "00078334" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-R" "DNA" "" ""
"0000078511" "00078335" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-R" "DNA" "" ""
"0000078512" "00078336" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-R" "DNA" "" ""
"0000078513" "00078337" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-R" "DNA" "" ""
"0000078514" "00078338" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-R" "DNA" "" ""
"0000078515" "00078339" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-R" "DNA" "" ""
"0000078516" "00078340" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-R" "DNA" "" ""
"0000078517" "00078341" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-R" "DNA" "" ""
"0000078518" "00078342" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-R" "DNA" "" ""
"0000078519" "00078343" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-R" "DNA" "" ""
"0000078520" "00078344" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-R" "DNA" "" ""
"0000078521" "00078345" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-R" "DNA" "" ""
"0000078522" "00078346" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-R" "DNA" "" ""
"0000078523" "00078347" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-R" "DNA" "" ""
"0000078524" "00078348" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-R" "DNA" "" ""
"0000078525" "00078349" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-R" "DNA" "" ""
"0000078526" "00078350" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-R" "DNA" "" ""
"0000078527" "00078351" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-R" "DNA" "" ""
"0000078528" "00078352" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-R" "DNA" "" ""
"0000078529" "00078353" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-R" "DNA" "" ""
"0000078530" "00078354" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-R" "DNA" "" ""
"0000078531" "00078355" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-R" "DNA" "" ""
"0000078532" "00078356" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-R" "DNA" "" ""
"0000078533" "00078357" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-R" "DNA" "" ""
"0000078534" "00078358" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-R" "DNA" "" ""
"0000078535" "00078359" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-R" "DNA" "" ""
"0000078536" "00078360" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-R" "DNA" "" ""
"0000078537" "00078361" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-R" "DNA" "" ""
"0000078538" "00078362" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-R" "DNA" "" ""
"0000078539" "00078363" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-R" "DNA" "" ""
"0000078540" "00078364" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-R" "DNA" "" ""
"0000078541" "00078365" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ-NG-R" "DNA" "" ""
"0000078542" "00078366" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ" "DNA" "" ""
"0000078543" "00078367" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ" "DNA" "" ""
"0000078544" "00078368" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ" "DNA" "" ""
"0000078545" "00078369" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ" "DNA" "" ""
"0000078546" "00078370" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ" "DNA" "" ""
"0000078547" "00078371" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ" "DNA" "" ""
"0000078548" "00078372" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ" "DNA" "" ""
"0000078549" "00078373" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ" "DNA" "" ""
"0000078550" "00078374" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ" "DNA" "" ""
"0000078551" "00078375" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ" "DNA" "" ""
"0000078552" "00078376" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ" "DNA" "" ""
"0000078553" "00078377" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ" "DNA" "" ""
"0000078554" "00078378" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ" "DNA" "" ""
"0000078555" "00078379" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ" "DNA" "" ""
"0000078556" "00078380" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ" "DNA" "" ""
"0000078557" "00078381" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ" "DNA" "" ""
"0000078558" "00078382" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ" "DNA" "" ""
"0000078559" "00078383" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ" "DNA" "" ""
"0000078560" "00078384" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ" "DNA" "" ""
"0000078561" "00078385" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ" "DNA" "" ""
"0000078562" "00078386" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ" "DNA" "" ""
"0000078563" "00078387" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ" "DNA" "" ""
"0000078564" "00078388" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ" "DNA" "" ""
"0000078565" "00078389" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ" "DNA" "" ""
"0000078566" "00078390" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ" "DNA" "" ""
"0000078567" "00078391" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ" "DNA" "" ""
"0000078568" "00078392" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ" "DNA" "" ""
"0000078569" "00078393" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ" "DNA" "" ""
"0000078570" "00078394" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ" "DNA" "" ""
"0000078571" "00078395" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ" "DNA" "" ""
"0000078572" "00078396" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ-NG-I" "DNA" "" "APEX"
"0000078573" "00078397" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ-NG-I" "DNA" "" "APEX"
"0000078574" "00078398" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ-NG-I" "DNA" "" "APEX"
"0000078575" "00078399" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ-NG-I" "DNA" "" "APEX"
"0000078576" "00078400" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ-NG-I" "DNA" "" "APEX"
"0000078577" "00078401" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ-NG-I" "DNA" "" "APEX"
"0000078578" "00078402" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ-NG-I" "DNA" "" "APEX"
"0000078579" "00078403" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ-NG-I" "DNA" "" "APEX"
"0000078580" "00078404" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ-NG-I" "DNA" "" "APEX"
"0000078581" "00078405" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ-NG-I" "DNA" "" "APEX"
"0000078582" "00078406" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ-NG-I" "DNA" "" "APEX"
"0000078583" "00078407" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ-NG-I" "DNA" "" "APEX"
"0000078584" "00078408" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ-NG-I" "DNA" "" "APEX"
"0000078585" "00078409" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ-NG-I" "DNA" "" "APEX"
"0000078586" "00078410" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ-NG-I" "DNA" "" "APEX"
"0000078587" "00078411" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ-NG-I" "DNA" "" "APEX"
"0000078588" "00078412" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ-NG-I" "DNA" "" "APEX"
"0000078589" "00078413" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ-NG-I" "DNA" "" "APEX"
"0000078590" "00078414" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ-NG-I" "DNA" "" "APEX"
"0000078591" "00078415" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ-NG-I" "DNA" "" "APEX"
"0000078592" "00078416" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ-NG-I" "DNA" "" "APEX"
"0000078593" "00078417" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ-NG-I" "DNA" "" "APEX"
"0000078594" "00078418" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ-NG-I" "DNA" "" "APEX"
"0000078595" "00078419" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ-NG-I" "DNA" "" "APEX"
"0000078596" "00078420" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ-NG-I" "DNA" "" "APEX"
"0000078597" "00078421" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ-NG-I" "DNA" "" "APEX"
"0000078598" "00078422" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ-NG-I" "DNA" "" "APEX"
"0000078599" "00078423" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ-NG-I" "DNA" "" "APEX"
"0000078600" "00078424" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000078601" "00078425" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000078602" "00078426" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000078603" "00078427" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000078604" "00078428" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000078605" "00078429" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000078606" "00078430" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000078607" "00078431" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000078608" "00078432" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE" "DNA" "" "APEX"
"0000078609" "00078433" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ" "DNA" "" "APEX"
"0000078610" "00078434" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ" "DNA" "" "APEX"
"0000078611" "00078435" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ" "DNA" "" "APEX"
"0000078612" "00078436" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ" "DNA" "" "APEX"
"0000078613" "00078437" "1" "01695" "01695" "2016-02-22 12:22:09" "00006" "2019-02-14 13:10:47" "PE;SEQ" "DNA" "" "APEX"
"0000078614" "00078438" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ" "DNA" "" ""
"0000078615" "00078439" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ" "DNA" "" ""
"0000078616" "00078440" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ" "DNA" "" ""
"0000078617" "00078441" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ" "DNA" "" ""
"0000078618" "00078442" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ" "DNA" "" ""
"0000078619" "00078443" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ" "DNA" "" ""
"0000078620" "00078444" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ" "DNA" "" ""
"0000078621" "00078445" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ" "DNA" "" ""
"0000078622" "00078446" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ" "DNA" "" ""
"0000078623" "00078447" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ" "DNA" "" ""
"0000078624" "00078448" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ" "DNA" "" ""
"0000078625" "00078449" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ" "DNA" "" ""
"0000078626" "00078450" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ" "DNA" "" ""
"0000078627" "00078451" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ" "DNA" "" ""
"0000078628" "00078452" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ" "DNA" "" ""
"0000078629" "00078453" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ" "DNA" "" ""
"0000078630" "00078454" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "?" "DNA" "" ""
"0000078631" "00078455" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "?" "DNA" "" ""
"0000078632" "00078456" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "?" "DNA" "" ""
"0000078633" "00078457" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "?" "DNA" "" ""
"0000078634" "00078458" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "?" "DNA" "" ""
"0000078635" "00078459" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "?" "DNA" "" ""
"0000078636" "00078460" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "?" "DNA" "" ""
"0000078637" "00078461" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "?" "DNA" "" ""
"0000078638" "00078462" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "?" "DNA" "" ""
"0000078639" "00078463" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "?" "DNA" "" ""
"0000078640" "00078464" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "?" "DNA" "" ""
"0000078641" "00078465" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "?" "DNA" "" ""
"0000078642" "00078466" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "?" "DNA" "" ""
"0000078643" "00078467" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "?" "DNA" "" ""
"0000078644" "00078468" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "?" "DNA" "" ""
"0000078645" "00078469" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "?" "DNA" "" ""
"0000078646" "00078470" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "?" "DNA" "" ""
"0000078647" "00078471" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "?" "DNA" "" ""
"0000078648" "00078472" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "?" "DNA" "" ""
"0000078649" "00078473" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "?" "DNA" "" ""
"0000078650" "00078474" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "?" "DNA" "" ""
"0000078651" "00078475" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "?" "DNA" "" ""
"0000078652" "00078476" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "?" "DNA" "" ""
"0000078653" "00078477" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "?" "DNA" "" ""
"0000078654" "00078478" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "?" "DNA" "" ""
"0000078655" "00078479" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "?" "DNA" "" ""
"0000078656" "00078480" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "?" "DNA" "" ""
"0000078657" "00078481" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "?" "DNA" "" ""
"0000078658" "00078482" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "?" "DNA" "" ""
"0000078659" "00078483" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "?" "DNA" "" ""
"0000078660" "00078484" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "?" "DNA" "" ""
"0000078661" "00078485" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "?" "DNA" "" ""
"0000078662" "00078486" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "?" "DNA" "" ""
"0000078663" "00078487" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "?" "DNA" "" ""
"0000078664" "00078488" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "?" "DNA" "" ""
"0000078665" "00078489" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "?" "DNA" "" ""
"0000078666" "00078490" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "?" "DNA" "" ""
"0000078667" "00078491" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "?" "DNA" "" ""
"0000078668" "00078492" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "?" "DNA" "" ""
"0000078669" "00078493" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "?" "DNA" "" ""
"0000078670" "00078494" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "?" "DNA" "" ""
"0000078671" "00078495" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "?" "DNA" "" ""
"0000078672" "00078496" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "?" "DNA" "" ""
"0000078673" "00078497" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "?" "DNA" "" ""
"0000078674" "00078498" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "?" "DNA" "" ""
"0000078675" "00078499" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "?" "DNA" "" ""
"0000078676" "00078500" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "?" "DNA" "" ""
"0000078677" "00078501" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "?" "DNA" "" ""
"0000078678" "00078502" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "?" "DNA" "" ""
"0000078679" "00078503" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "?" "DNA" "" ""
"0000078680" "00078504" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "?" "DNA" "" ""
"0000078681" "00078505" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "?" "DNA" "" ""
"0000078682" "00078506" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "?" "DNA" "" ""
"0000078683" "00078507" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "?" "DNA" "" ""
"0000078684" "00078508" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "?" "DNA" "" ""
"0000078685" "00078509" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "?" "DNA" "" ""
"0000078686" "00078510" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "?" "DNA" "" ""
"0000078687" "00078511" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "?" "DNA" "" ""
"0000078688" "00078512" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "?" "DNA" "" ""
"0000078689" "00078513" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "?" "DNA" "" ""
"0000078690" "00078514" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "?" "DNA" "" ""
"0000078691" "00078515" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "?" "DNA" "" ""
"0000078692" "00078516" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "?" "DNA" "" ""
"0000078693" "00078517" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "?" "DNA" "" ""
"0000078694" "00078518" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "?" "DNA" "" ""
"0000078695" "00078519" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "?" "DNA" "" ""
"0000078696" "00078520" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "?" "DNA" "" ""
"0000078697" "00078521" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "?" "DNA" "" ""
"0000078698" "00078522" "1" "01695" "01695" "2016-02-22 12:22:09" "" "" "SEQ" "DNA" "" ""
"0000080895" "00080783" "1" "01763" "01763" "2016-09-13 15:07:25" "" "" "SEQ-NG" "DNA" "" ""
"0000080896" "00080784" "1" "01763" "01763" "2016-09-13 15:37:14" "" "" "SEQ-NG" "DNA" "" ""
"0000080897" "00080785" "1" "01763" "01763" "2016-09-13 15:47:34" "" "" "SEQ-NG" "DNA" "" ""
"0000080898" "00080786" "1" "01763" "01763" "2016-09-13 15:55:19" "" "" "SEQ-NG" "DNA" "" ""
"0000080899" "00080787" "1" "01763" "01763" "2016-09-13 16:03:57" "" "" "SEQ-NG" "DNA" "" ""
"0000080900" "00080788" "1" "01763" "01763" "2016-09-13 16:09:49" "" "" "SEQ-NG" "DNA" "" ""
"0000080901" "00080789" "1" "01763" "01763" "2016-09-13 16:18:04" "" "" "SEQ-NG" "DNA" "" ""
"0000080903" "00080791" "1" "01763" "01763" "2016-09-13 16:34:32" "" "" "SEQ-NG" "DNA" "" ""
"0000090281" "00090137" "1" "00717" "00717" "2016-12-08 21:08:27" "" "" "SEQ-NG-I" "DNA" "" ""
"0000090282" "00090138" "1" "00717" "00717" "2016-12-08 21:26:10" "" "" "SEQ-NG-I" "DNA" "" ""
"0000090283" "00090139" "1" "00717" "00717" "2016-12-08 21:38:45" "" "" "SEQ-NG-I" "DNA" "" ""
"0000090284" "00090140" "1" "00717" "00717" "2016-12-08 22:25:21" "" "" "SEQ-NG-I" "DNA" "" ""
"0000090285" "00090141" "1" "00717" "00717" "2016-12-08 22:35:10" "" "" "SEQ-NG-I" "DNA" "" ""
"0000090286" "00090142" "1" "00717" "00717" "2016-12-08 22:39:28" "" "" "SEQ-NG-I" "DNA" "" ""
"0000090287" "00090143" "1" "00717" "00717" "2016-12-08 22:43:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000090288" "00090144" "1" "00717" "00717" "2016-12-08 22:48:58" "" "" "SEQ-NG-I" "DNA" "" ""
"0000090289" "00090145" "1" "00717" "00717" "2016-12-08 22:53:39" "" "" "arraySNP" "DNA" "" ""
"0000090290" "00090146" "1" "00717" "00717" "2016-12-08 22:58:40" "" "" "SEQ-NG-I" "DNA" "" ""
"0000090291" "00090147" "1" "00717" "00717" "2016-12-08 23:01:46" "" "" "SEQ-NG-I" "DNA" "" ""
"0000090292" "00090148" "1" "00717" "00717" "2016-12-08 23:06:35" "" "" "arraySNP" "DNA" "" ""
"0000090293" "00090149" "1" "00717" "00717" "2016-12-08 23:10:52" "" "" "SEQ-NG-I" "DNA" "" ""
"0000090295" "00090151" "1" "00717" "00717" "2016-12-08 23:26:37" "" "" "arrayCGH;SEQ-NG-I" "DNA" "" ""
"0000090296" "00090152" "1" "00717" "00717" "2016-12-08 23:29:06" "" "" "arrayCGH;SEQ-NG-I" "DNA" "" ""
"0000090297" "00090153" "1" "00717" "00717" "2016-12-08 23:31:22" "" "" "arrayCGH;arraySNP" "DNA" "" ""
"0000090298" "00090154" "1" "00717" "00717" "2016-12-08 23:34:12" "" "" "arrayCGH;SEQ-NG-I" "DNA" "" ""
"0000090299" "00090155" "1" "00717" "00717" "2016-12-08 23:36:47" "" "" "SEQ-NG-I" "DNA" "" ""
"0000090301" "00090157" "1" "00717" "00717" "2016-12-08 23:40:21" "" "" "SEQ-NG-I" "DNA" "" ""
"0000090302" "00090158" "1" "00717" "00717" "2016-12-08 23:42:34" "" "" "SEQ-NG-I" "DNA" "" ""
"0000090303" "00090159" "1" "00717" "00717" "2016-12-08 23:47:03" "" "" "arrayCGH;SEQ-NG-I" "DNA" "" ""
"0000090304" "00090161" "1" "00717" "00717" "2016-12-08 23:49:49" "" "" "SEQ" "DNA" "" ""
"0000090306" "00090162" "1" "00717" "00717" "2016-12-08 23:52:52" "" "" "SEQ-NG-I" "DNA" "" ""
"0000090307" "00090163" "1" "00717" "00717" "2016-12-08 23:57:19" "" "" "SEQ-NG-I" "DNA" "" ""
"0000090309" "00090165" "1" "00717" "00717" "2016-12-09 00:12:07" "" "" "SEQ-NG-I" "DNA" "" ""
"0000090310" "00090166" "1" "00717" "00717" "2016-12-09 00:14:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000090311" "00090167" "1" "00717" "00717" "2016-12-09 00:17:51" "" "" "SEQ-NG-I" "DNA" "" ""
"0000090312" "00090168" "1" "00717" "00717" "2016-12-09 00:22:08" "" "" "arrayCGH;SEQ-NG-I" "DNA" "" ""
"0000090313" "00090169" "1" "00717" "00717" "2016-12-09 00:24:16" "" "" "SEQ-NG-I" "DNA" "" ""
"0000090314" "00090170" "1" "00717" "00717" "2016-12-09 00:27:36" "" "" "SEQ" "DNA" "" ""
"0000104360" "00103902" "1" "00006" "00006" "2017-04-22 16:52:53" "" "" "SEQ;SEQ-NG" "DNA" "" ""
"0000105465" "00104993" "1" "01244" "01244" "2017-06-14 15:45:50" "" "" "SEQ-NG-I" "DNA" "Whole blood" ""
"0000105684" "00105211" "1" "01244" "01244" "2017-06-20 11:07:52" "" "" "SEQ-NG-I" "DNA" "Whole blood" ""
"0000144825" "00143966" "1" "01780" "00006" "2017-11-28 22:45:32" "" "" "SEQ-NG-I" "DNA" "" ""
"0000145930" "00145073" "1" "02348" "02348" "2017-12-23 09:51:02" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "blood" "prioritization scheme of exome sequencing"
"0000152279" "00151424" "1" "00006" "00006" "2018-01-19 13:27:13" "" "" "SEQ;SEQ-NG" "DNA" "" ""
"0000152901" "00152045" "1" "02383" "02383" "2018-02-01 22:32:25" "" "" "SEQ-NG" "DNA" "Blood" ""
"0000153548" "00152690" "1" "02383" "02383" "2018-02-05 21:50:56" "" "" "SEQ-NG" "DNA" "Blood" ""
"0000153549" "00152691" "1" "02383" "02383" "2018-02-05 22:08:16" "" "" "SEQ-NG" "DNA" "Blood" ""
"0000153550" "00152692" "1" "02383" "02383" "2018-02-05 22:20:44" "" "" "SEQ-NG" "DNA" "Blood" ""
"0000153551" "00152693" "1" "02383" "02383" "2018-02-05 22:34:20" "" "" "SEQ-NG" "DNA" "Blood" ""
"0000153564" "00152703" "1" "02383" "02383" "2018-02-07 07:15:27" "" "" "SEQ-NG" "DNA" "Blood" ""
"0000153567" "00152705" "1" "02383" "02383" "2018-02-07 07:47:17" "" "" "SEQ-NG" "DNA" "Blood" ""
"0000153568" "00152706" "1" "02383" "02383" "2018-02-07 07:56:18" "" "" "SEQ-NG" "DNA" "Blood" ""
"0000153569" "00152707" "1" "02383" "02383" "2018-02-07 08:04:53" "" "" "SEQ-NG" "DNA" "Blood" ""
"0000153580" "00152718" "1" "02383" "02383" "2018-02-08 07:28:49" "" "" "SEQ-NG" "DNA" "Blood" ""
"0000153581" "00152719" "1" "02383" "02383" "2018-02-08 07:34:40" "" "" "SEQ-NG" "DNA" "Blood" ""
"0000156182" "00155317" "1" "01243" "01243" "2018-03-18 14:37:15" "" "" "SEQ" "DNA" "" ""
"0000156183" "00155318" "1" "01243" "01243" "2018-03-18 14:37:15" "" "" "SEQ" "DNA" "" ""
"0000156184" "00155319" "1" "01243" "01243" "2018-03-18 14:37:15" "" "" "SEQ" "DNA" "" ""
"0000156185" "00155320" "1" "01243" "01243" "2018-03-18 14:37:15" "" "" "SEQ" "DNA" "" ""
"0000156186" "00155321" "1" "01243" "01243" "2018-03-18 14:37:15" "" "" "SEQ" "DNA" "" ""
"0000156187" "00155322" "1" "01243" "01243" "2018-03-18 14:37:15" "" "" "SEQ" "DNA" "" ""
"0000156188" "00155323" "1" "01243" "01243" "2018-03-18 14:37:15" "" "" "SEQ" "DNA" "" ""
"0000156189" "00155324" "1" "01243" "01243" "2018-03-18 14:37:15" "" "" "SEQ" "DNA" "" ""
"0000156190" "00155325" "1" "01243" "01243" "2018-03-18 14:37:15" "" "" "SEQ" "DNA" "" ""
"0000156191" "00155326" "1" "01243" "01243" "2018-03-18 14:37:15" "" "" "SEQ" "DNA" "" ""
"0000156192" "00155327" "1" "01243" "01243" "2018-03-18 14:37:15" "" "" "SEQ" "DNA" "" ""
"0000156193" "00155328" "1" "01243" "01243" "2018-03-18 14:37:15" "" "" "SEQ" "DNA" "" ""
"0000156194" "00155329" "1" "01243" "01243" "2018-03-18 14:37:15" "" "" "SEQ" "DNA" "" ""
"0000156195" "00155330" "1" "01243" "01243" "2018-03-18 14:37:15" "" "" "SEQ" "DNA" "" ""
"0000156196" "00155331" "1" "01243" "01243" "2018-03-18 14:37:15" "" "" "SEQ" "DNA" "" ""
"0000156197" "00155332" "1" "01243" "01243" "2018-03-18 14:37:15" "" "" "SEQ" "DNA" "" ""
"0000156198" "00155333" "1" "01243" "01243" "2018-03-18 14:37:15" "" "" "SEQ" "DNA" "" ""
"0000156199" "00155334" "1" "01243" "01243" "2018-03-18 14:37:15" "" "" "SEQ" "DNA" "" ""
"0000156200" "00155335" "1" "01243" "01243" "2018-03-18 14:37:15" "" "" "SEQ" "DNA" "" ""
"0000156201" "00155336" "1" "01243" "01243" "2018-03-18 14:37:15" "" "" "SEQ" "DNA" "" ""
"0000156202" "00155337" "1" "01243" "01243" "2018-03-18 14:37:15" "" "" "SEQ" "DNA" "" ""
"0000156203" "00155338" "1" "01243" "01243" "2018-03-18 14:37:15" "" "" "SEQ" "DNA" "" ""
"0000156204" "00155339" "1" "01243" "01243" "2018-03-18 14:37:15" "" "" "SEQ" "DNA" "" ""
"0000156205" "00155340" "1" "01243" "01243" "2018-03-18 14:37:15" "" "" "SEQ" "DNA" "" ""
"0000156206" "00155341" "1" "01243" "01243" "2018-03-18 14:37:15" "" "" "SEQ" "DNA" "" ""
"0000156207" "00155342" "1" "01243" "01243" "2018-03-18 14:37:15" "" "" "SEQ" "DNA" "" ""
"0000156208" "00155343" "1" "01243" "01243" "2018-03-18 14:37:15" "" "" "SEQ" "DNA" "" ""
"0000156209" "00155344" "1" "01243" "01243" "2018-03-18 14:37:15" "" "" "SEQ" "DNA" "" ""
"0000156210" "00155345" "1" "01243" "01243" "2018-03-18 14:37:15" "" "" "SEQ" "DNA" "" ""
"0000156211" "00155346" "1" "01243" "01243" "2018-03-18 14:37:15" "" "" "SEQ" "DNA" "" ""
"0000156212" "00155347" "1" "01243" "01243" "2018-03-18 14:37:15" "" "" "SEQ" "DNA" "" ""
"0000156213" "00155348" "1" "01243" "01243" "2018-03-18 14:37:15" "" "" "SEQ" "DNA" "" ""
"0000156214" "00155349" "1" "01243" "01243" "2018-03-18 14:37:15" "" "" "SEQ" "DNA" "" ""
"0000156215" "00155350" "1" "01243" "01243" "2018-03-18 14:37:15" "" "" "SEQ" "DNA" "" ""
"0000156216" "00155351" "1" "01243" "01243" "2018-03-18 14:37:15" "" "" "SEQ" "DNA" "" ""
"0000156217" "00155352" "1" "01243" "01243" "2018-03-18 14:37:15" "" "" "SEQ" "DNA" "" ""
"0000156218" "00155353" "1" "01243" "01243" "2018-03-18 14:37:15" "" "" "SEQ" "DNA" "" ""
"0000156219" "00155354" "1" "01243" "01243" "2018-03-18 14:37:15" "" "" "SEQ" "DNA" "" ""
"0000156220" "00155355" "1" "01243" "01243" "2018-03-18 14:37:15" "" "" "SEQ" "DNA" "" ""
"0000156221" "00155356" "1" "01243" "01243" "2018-03-18 14:37:15" "" "" "SEQ" "DNA" "" ""
"0000156222" "00155357" "1" "01243" "01243" "2018-03-18 14:37:15" "" "" "SEQ" "DNA" "" ""
"0000156223" "00155358" "1" "01243" "01243" "2018-03-18 14:37:15" "" "" "SEQ" "DNA" "" ""
"0000156224" "00155359" "1" "01243" "01243" "2018-03-18 14:37:15" "" "" "SEQ" "DNA" "" ""
"0000156225" "00155360" "1" "01243" "01243" "2018-03-18 14:37:15" "" "" "SEQ" "DNA" "" ""
"0000156226" "00155361" "1" "01243" "01243" "2018-03-18 14:37:15" "" "" "SEQ" "DNA" "" ""
"0000156227" "00155362" "1" "01243" "01243" "2018-03-18 14:37:15" "" "" "SEQ" "DNA" "" ""
"0000156228" "00155363" "1" "01243" "01243" "2018-03-18 14:37:15" "" "" "SEQ" "DNA" "" ""
"0000156229" "00155364" "1" "01243" "01243" "2018-03-18 14:37:15" "" "" "SEQ" "DNA" "" ""
"0000156230" "00155365" "1" "01243" "01243" "2018-03-18 14:37:15" "" "" "SEQ" "DNA" "" ""
"0000156231" "00155366" "1" "01243" "01243" "2018-03-18 14:37:15" "" "" "SEQ" "DNA" "" ""
"0000156232" "00155367" "1" "01243" "01243" "2018-03-18 14:37:15" "" "" "SEQ" "DNA" "" ""
"0000156233" "00155368" "1" "01243" "01243" "2018-03-18 14:37:15" "" "" "SEQ" "DNA" "" ""
"0000156234" "00155369" "1" "01243" "01243" "2018-03-18 14:37:15" "" "" "SEQ" "DNA" "" ""
"0000156235" "00155370" "1" "01243" "01243" "2018-03-18 14:37:15" "" "" "SEQ" "DNA" "" ""
"0000156236" "00155371" "1" "01243" "01243" "2018-03-18 14:37:15" "" "" "SEQ" "DNA" "" ""
"0000156237" "00155372" "1" "01243" "01243" "2018-03-18 14:37:15" "" "" "SEQ" "DNA" "" ""
"0000164848" "00163983" "1" "00717" "00717" "2018-04-30 17:59:18" "" "" "SEQ-NG-I" "DNA" "" ""
"0000165513" "00164649" "1" "00006" "00006" "2018-06-03 11:01:31" "" "" "MLPA;SEQ" "DNA" "" ""
"0000165514" "00164650" "1" "00006" "00006" "2018-06-03 11:07:49" "" "" "MLPA;SEQ" "DNA" "" ""
"0000165515" "00164651" "1" "00006" "00006" "2018-06-04 08:26:28" "" "" "SEQ" "DNA" "" ""
"0000171730" "00170848" "1" "00244" "00244" "2018-07-26 10:17:32" "" "" "SEQ-NG-I" "DNA" "" "Gene Panel (79 IRD genes)"
"0000171731" "00170849" "1" "00244" "00244" "2018-07-26 10:56:21" "" "" "SEQ-NG" "DNA" "" "Gene Panel (79 IRD genes)"
"0000171732" "00170850" "1" "00244" "00244" "2018-07-26 11:17:14" "" "" "SEQ-NG-I" "DNA" "" "Gene Panel (79 IRD genes)"
"0000184227" "00183268" "1" "02597" "02597" "2018-10-22 11:26:59" "" "" "SEQ" "DNA" "" ""
"0000184294" "00183333" "1" "02597" "02597" "2018-10-23 13:44:01" "" "" "SEQ" "DNA" "" ""
"0000184321" "00183360" "1" "02597" "02597" "2018-10-23 23:30:04" "" "" "SEQ" "DNA" "" ""
"0000184323" "00183362" "1" "02597" "02597" "2018-10-23 23:50:51" "" "" "SEQ" "DNA" "" ""
"0000184326" "00183364" "1" "02597" "02597" "2018-10-24 00:01:32" "" "" "SEQ" "DNA" "" ""
"0000184330" "00183369" "1" "02597" "02597" "2018-10-24 00:24:58" "" "" "SEQ" "DNA" "" ""
"0000208631" "00207594" "1" "01244" "01244" "2018-11-26 12:05:14" "" "" "SEQ-NG-I" "DNA" "Peripheral blood" ""
"0000208715" "00207674" "1" "01244" "01244" "2018-11-27 15:35:47" "" "" "SEQ-NG-I" "DNA" "Peripheral blood" ""
"0000208740" "00207699" "1" "01244" "01244" "2018-11-28 16:56:01" "" "" "SEQ-NG-I" "DNA" "Peripheral blood" ""
"0000210063" "00209006" "1" "00006" "00006" "2018-12-22 15:10:51" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000210071" "00209014" "1" "00006" "00006" "2018-12-22 15:10:51" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000210072" "00209015" "1" "00006" "00006" "2018-12-22 15:10:51" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000210086" "00209029" "1" "00006" "00006" "2018-12-22 15:10:51" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000219461" "00218391" "1" "03188" "03188" "2019-01-25 14:28:08" "" "" "SEQ" "DNA" "" ""
"0000231757" "00230661" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231758" "00230662" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231759" "00230663" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231760" "00230664" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231761" "00230665" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231762" "00230666" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231763" "00230667" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231764" "00230668" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231765" "00230669" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231766" "00230670" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231767" "00230671" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231768" "00230672" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231769" "00230673" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231770" "00230674" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231771" "00230675" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231772" "00230676" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231773" "00230677" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231774" "00230678" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231775" "00230679" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231776" "00230680" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231777" "00230681" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231778" "00230682" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231779" "00230683" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231780" "00230684" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231781" "00230685" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231782" "00230686" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231783" "00230687" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231784" "00230688" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231785" "00230689" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231786" "00230690" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231787" "00230691" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231788" "00230692" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231789" "00230693" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231790" "00230694" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231791" "00230695" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231792" "00230696" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231793" "00230697" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231794" "00230698" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231795" "00230699" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231796" "00230700" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231797" "00230701" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231798" "00230702" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231799" "00230703" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231800" "00230704" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231801" "00230705" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231802" "00230706" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231803" "00230707" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231804" "00230708" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231805" "00230709" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231806" "00230710" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231807" "00230711" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231808" "00230712" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231809" "00230713" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231810" "00230714" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231811" "00230715" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231812" "00230716" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231813" "00230717" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231814" "00230718" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231815" "00230719" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231816" "00230720" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231817" "00230721" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231818" "00230722" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231819" "00230723" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231820" "00230724" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231821" "00230725" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231822" "00230726" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231823" "00230727" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231824" "00230728" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231825" "00230729" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231826" "00230730" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231827" "00230731" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231828" "00230732" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231829" "00230733" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231830" "00230734" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231831" "00230735" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231832" "00230736" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231833" "00230737" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231834" "00230738" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231835" "00230739" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231836" "00230740" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231837" "00230741" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231838" "00230742" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231839" "00230743" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231840" "00230744" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231841" "00230745" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231842" "00230746" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231843" "00230747" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231844" "00230748" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231845" "00230749" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231846" "00230750" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231847" "00230751" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231848" "00230752" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231849" "00230753" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231850" "00230754" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231851" "00230755" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231852" "00230756" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231853" "00230757" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231854" "00230758" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231855" "00230759" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231856" "00230760" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231857" "00230761" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231858" "00230762" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231859" "00230763" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231860" "00230764" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231861" "00230765" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231862" "00230766" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231863" "00230767" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231864" "00230768" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231865" "00230769" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231866" "00230770" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231867" "00230771" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231868" "00230772" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231869" "00230773" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231870" "00230774" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231871" "00230775" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231872" "00230776" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231873" "00230777" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231874" "00230778" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231875" "00230779" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231876" "00230780" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231877" "00230781" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231878" "00230782" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231879" "00230783" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231880" "00230784" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231881" "00230785" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231882" "00230786" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231883" "00230787" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231884" "00230788" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231885" "00230789" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231886" "00230790" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231887" "00230791" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231888" "00230792" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231889" "00230793" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231890" "00230794" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231891" "00230795" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231892" "00230796" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231893" "00230797" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231894" "00230798" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231895" "00230799" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231896" "00230800" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231897" "00230801" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231898" "00230802" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231899" "00230803" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231900" "00230804" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231901" "00230805" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231902" "00230806" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231903" "00230807" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231904" "00230808" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231905" "00230809" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231906" "00230810" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231907" "00230811" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231908" "00230812" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231909" "00230813" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231910" "00230814" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231911" "00230815" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231912" "00230816" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231913" "00230817" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231914" "00230818" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231915" "00230819" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231916" "00230820" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231917" "00230821" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231918" "00230822" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231919" "00230823" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231920" "00230824" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231921" "00230825" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231922" "00230826" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231923" "00230827" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231924" "00230828" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231925" "00230829" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231926" "00230830" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231927" "00230831" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231928" "00230832" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231929" "00230833" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231930" "00230834" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231931" "00230835" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231932" "00230836" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231933" "00230837" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231934" "00230838" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231935" "00230839" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231936" "00230840" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231937" "00230841" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231938" "00230842" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231939" "00230843" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231940" "00230844" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231941" "00230845" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231942" "00230846" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231943" "00230847" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231944" "00230848" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231945" "00230849" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231946" "00230850" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231947" "00230851" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231948" "00230852" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231949" "00230853" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231950" "00230854" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231951" "00230855" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231952" "00230856" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231953" "00230857" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231954" "00230858" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231955" "00230859" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231956" "00230860" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231957" "00230861" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231958" "00230862" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231959" "00230863" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231960" "00230864" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231961" "00230865" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231962" "00230866" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231963" "00230867" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231964" "00230868" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231965" "00230869" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231966" "00230870" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231967" "00230871" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231968" "00230872" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231969" "00230873" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231970" "00230874" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231971" "00230875" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231972" "00230876" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231973" "00230877" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231974" "00230878" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231975" "00230879" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231976" "00230880" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231977" "00230881" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231978" "00230882" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231979" "00230883" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231980" "00230884" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231981" "00230885" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231982" "00230886" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231983" "00230887" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231984" "00230888" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231985" "00230889" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231986" "00230890" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231987" "00230891" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231988" "00230892" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231989" "00230893" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231990" "00230894" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231991" "00230895" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231992" "00230896" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231993" "00230897" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231994" "00230898" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231995" "00230899" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231996" "00230900" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231997" "00230901" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231998" "00230902" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000231999" "00230903" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000232000" "00230904" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000232001" "00230905" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000232002" "00230906" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000232003" "00230907" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000232004" "00230908" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000232005" "00230909" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000232006" "00230910" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000232007" "00230911" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000232008" "00230912" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000232009" "00230913" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000232010" "00230914" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000232011" "00230915" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000232012" "00230916" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000232013" "00230917" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000232014" "00230918" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000232015" "00230919" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000232016" "00230920" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000232017" "00230921" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000232018" "00230922" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000232019" "00230923" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000232020" "00230924" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000232021" "00230925" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000232022" "00230926" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000232023" "00230927" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000232024" "00230928" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000232025" "00230929" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000232026" "00230930" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000232027" "00230931" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000232028" "00230932" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000232029" "00230933" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000232030" "00230934" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000232031" "00230935" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000232032" "00230936" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000232033" "00230937" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000232034" "00230938" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000232035" "00230939" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000232036" "00230940" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000232037" "00230941" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000232038" "00230942" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000232039" "00230943" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000232040" "00230944" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000232041" "00230945" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000232042" "00230946" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000232043" "00230947" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000232044" "00230948" "1" "01695" "00006" "2019-04-17 17:14:29" "" "" "SEQ;MIPsm" "DNA" "" ""
"0000233007" "00231908" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000233008" "00231909" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000233009" "00231910" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000233010" "00231911" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000233011" "00231912" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000233012" "00231913" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000233013" "00231914" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000233014" "00231915" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000233015" "00231916" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000233016" "00231917" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000233017" "00231918" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000233018" "00231919" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000233019" "00231920" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000233020" "00231921" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000233021" "00231922" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000233022" "00231923" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000233023" "00231924" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000233024" "00231925" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000233025" "00231926" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000233026" "00231927" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000233027" "00231928" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000233028" "00231929" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000233029" "00231930" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000233030" "00231931" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000233031" "00231932" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000233032" "00231933" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000233033" "00231934" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000233034" "00231935" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000233035" "00231936" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000233036" "00231937" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000233037" "00231938" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000233038" "00231939" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000233039" "00231940" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000233040" "00231941" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000233041" "00231942" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000233042" "00231943" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000233043" "00231944" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000233044" "00231945" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000233045" "00231946" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000233046" "00231947" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000233047" "00231948" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000233048" "00231949" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000233049" "00231950" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000233050" "00231951" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000233051" "00231952" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000233052" "00231953" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000233053" "00231954" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000233054" "00231955" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000233055" "00231956" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000233056" "00231957" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000233057" "00231958" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000233058" "00231959" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000233059" "00231960" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000233060" "00231961" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000233061" "00231962" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000233062" "00231963" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000233063" "00231964" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000233064" "00231965" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000233065" "00231966" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000233066" "00231967" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000233067" "00231968" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000233068" "00231969" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000233069" "00231970" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000233070" "00231971" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000233071" "00231972" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000233072" "00231973" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000233073" "00231974" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000233074" "00231975" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000233075" "00231976" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000233076" "00231977" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234693" "00233594" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234694" "00233595" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234695" "00233596" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234696" "00233597" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234697" "00233598" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234698" "00233599" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234699" "00233600" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234700" "00233601" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234910" "00233811" "1" "00020" "03230" "2019-03-20 11:55:21" "" "" "SEQ" "DNA" "blood" "sequencing ABCA4 gene"
"0000234911" "00233812" "1" "00020" "03230" "2019-03-20 11:55:21" "" "" "SEQ" "DNA" "blood" "sequencing ABCA4 gene"
"0000234912" "00233813" "1" "00020" "03230" "2019-03-20 11:55:21" "" "" "SEQ" "DNA" "blood" "sequencing ABCA4 gene"
"0000234913" "00233814" "1" "00020" "03230" "2019-03-20 11:55:21" "" "" "SEQ" "DNA" "blood" "sequencing ABCA4 gene"
"0000234914" "00233815" "1" "00020" "03230" "2019-03-20 11:55:21" "" "" "SEQ" "DNA" "blood" "sequencing ABCA4 gene"
"0000234915" "00233816" "1" "00020" "03230" "2019-03-20 11:55:21" "" "" "SEQ" "DNA" "blood" "sequencing ABCA4 gene"
"0000234916" "00233817" "1" "00020" "03230" "2019-03-20 11:55:21" "" "" "SEQ" "DNA" "blood" "sequencing ABCA4 gene"
"0000234917" "00233818" "1" "00020" "03230" "2019-03-20 11:55:21" "" "" "SEQ" "DNA" "blood" "sequencing ABCA4 gene"
"0000234918" "00233819" "1" "00020" "03230" "2019-03-20 11:55:21" "" "" "SEQ" "DNA" "blood" "sequencing ABCA4 gene"
"0000234919" "00233820" "1" "00020" "03230" "2019-03-20 11:55:21" "" "" "SEQ" "DNA" "blood" "sequencing ABCA4 gene"
"0000234920" "00233821" "1" "00020" "03230" "2019-03-20 11:55:21" "" "" "SEQ" "DNA" "blood" "sequencing ABCA4 gene"
"0000234921" "00233822" "1" "00020" "03230" "2019-03-20 11:55:21" "" "" "SEQ" "DNA" "blood" "sequencing ABCA4 gene"
"0000234922" "00233823" "1" "00020" "03230" "2019-03-20 11:55:21" "" "" "SEQ" "DNA" "blood" "sequencing ABCA4 gene"
"0000234923" "00233824" "1" "00020" "03230" "2019-03-20 11:55:21" "" "" "SEQ" "DNA" "blood" "sequencing ABCA4 gene"
"0000234924" "00233825" "1" "00020" "03230" "2019-03-20 11:55:21" "" "" "SEQ" "DNA" "blood" "sequencing ABCA4 gene"
"0000234925" "00233826" "1" "00020" "03230" "2019-03-20 11:55:21" "" "" "SEQ" "DNA" "blood" "sequencing ABCA4 gene"
"0000234926" "00233827" "1" "00020" "03230" "2019-03-20 11:55:21" "" "" "SEQ" "DNA" "blood" "sequencing ABCA4 gene"
"0000234927" "00233828" "1" "00020" "03230" "2019-03-20 11:55:21" "" "" "SEQ" "DNA" "blood" "sequencing ABCA4 gene"
"0000234928" "00233829" "1" "00020" "03230" "2019-03-20 11:55:21" "" "" "SEQ" "DNA" "blood" "sequencing ABCA4 gene"
"0000234929" "00233830" "1" "00020" "03230" "2019-03-20 11:55:21" "" "" "SEQ" "DNA" "blood" "sequencing ABCA4 gene"
"0000234930" "00233831" "1" "00020" "03230" "2019-03-20 11:55:21" "" "" "SEQ" "DNA" "blood" "sequencing ABCA4 gene"
"0000234931" "00233832" "1" "00020" "03230" "2019-03-20 11:55:21" "" "" "SEQ" "DNA" "blood" "sequencing ABCA4 gene"
"0000234932" "00233833" "1" "00020" "03230" "2019-03-20 11:55:21" "" "" "SEQ" "DNA" "blood" "sequencing ABCA4 gene"
"0000234933" "00233834" "1" "00020" "03230" "2019-03-20 11:55:21" "" "" "SEQ" "DNA" "blood" "sequencing ABCA4 gene"
"0000234934" "00233835" "1" "00020" "03230" "2019-03-20 11:55:21" "" "" "SEQ" "DNA" "blood" "sequencing ABCA4 gene"
"0000234935" "00233836" "1" "00020" "03230" "2019-03-20 11:55:21" "" "" "SEQ" "DNA" "blood" "sequencing ABCA4 gene"
"0000234936" "00233837" "1" "00020" "03230" "2019-03-20 11:55:21" "" "" "SEQ" "DNA" "blood" "sequencing ABCA4 gene"
"0000234937" "00233838" "1" "00020" "03230" "2019-03-20 11:55:21" "" "" "SEQ" "DNA" "blood" "sequencing ABCA4 gene"
"0000234938" "00233839" "1" "00020" "03230" "2019-03-20 11:55:21" "" "" "SEQ" "DNA" "blood" "sequencing ABCA4 gene"
"0000234939" "00233840" "1" "00020" "03230" "2019-03-20 11:55:21" "" "" "SEQ" "DNA" "blood" "sequencing ABCA4 gene"
"0000234940" "00233841" "1" "00020" "03230" "2019-03-20 11:55:21" "" "" "SEQ" "DNA" "blood" "sequencing ABCA4 gene"
"0000234941" "00233842" "1" "00020" "03230" "2019-03-20 11:55:21" "" "" "SEQ" "DNA" "blood" "sequencing ABCA4 gene"
"0000234942" "00233843" "1" "00020" "03230" "2019-03-20 11:55:21" "" "" "SEQ" "DNA" "blood" "sequencing ABCA4 gene"
"0000234943" "00233844" "1" "00020" "03230" "2019-03-20 11:55:21" "" "" "SEQ" "DNA" "blood" "sequencing ABCA4 gene"
"0000234944" "00233845" "1" "00020" "03230" "2019-03-20 11:55:21" "" "" "SEQ" "DNA" "blood" "sequencing ABCA4 gene"
"0000234945" "00233846" "1" "00020" "03230" "2019-03-20 11:55:21" "" "" "SEQ" "DNA" "blood" "sequencing ABCA4 gene"
"0000234946" "00233847" "1" "00020" "03230" "2019-03-20 11:55:21" "" "" "SEQ" "DNA" "blood" "sequencing ABCA4 gene"
"0000234947" "00233848" "1" "00020" "03230" "2019-03-20 11:55:21" "" "" "SEQ" "DNA" "blood" "sequencing ABCA4 gene"
"0000234948" "00233849" "1" "00020" "03230" "2019-03-20 11:55:21" "" "" "SEQ" "DNA" "blood" "sequencing ABCA4 gene"
"0000234949" "00233850" "1" "00020" "03230" "2019-03-20 11:55:21" "" "" "SEQ" "DNA" "blood" "sequencing ABCA4 gene"
"0000234950" "00233851" "1" "00020" "03230" "2019-03-20 11:55:21" "" "" "SEQ" "DNA" "blood" "sequencing ABCA4 gene"
"0000241527" "00240417" "1" "03335" "00008" "2019-06-20 17:48:49" "" "" "SEQ-NG-I" "DNA" "blood" ""
"0000241528" "00240418" "1" "03335" "00008" "2019-06-20 17:48:49" "" "" "SEQ-NG-I" "DNA" "blood" ""
"0000241529" "00240419" "1" "03335" "00008" "2019-06-20 17:48:49" "" "" "SEQ-NG-I" "DNA" "blood" ""
"0000241530" "00240420" "1" "03335" "00008" "2019-06-20 17:48:49" "" "" "SEQ-NG-I" "DNA" "blood" ""
"0000241531" "00240421" "1" "03335" "00008" "2019-06-20 17:48:49" "" "" "SEQ-NG-I" "DNA" "blood" ""
"0000241583" "00240472" "1" "03336" "03336" "2019-06-21 09:32:45" "" "" "SEQ-NG" "DNA" "peripheral blood" "gene panel"
"0000241584" "00240474" "1" "03336" "03336" "2019-06-21 09:58:09" "" "" "SEQ-NG" "DNA" "peripheral blood" ""
"0000241590" "00240479" "1" "03336" "03336" "2019-06-21 12:48:10" "" "" "SEQ-NG" "DNA" "peripheral blood" ""
"0000241594" "00240484" "1" "03336" "03336" "2019-06-21 13:04:12" "" "" "SEQ-NG" "DNA" "peripheral blood" ""
"0000241596" "00240486" "1" "03336" "03336" "2019-06-21 13:11:38" "" "" "SEQ-NG" "DNA" "peripheral blood" ""
"0000241597" "00240487" "1" "03336" "03336" "2019-06-21 13:18:00" "" "" "SEQ-NG" "DNA" "peripheral blood" ""
"0000241599" "00240489" "1" "03336" "03336" "2019-06-21 13:24:16" "" "" "SEQ-NG" "DNA" "peripheral blood" ""
"0000241601" "00240492" "1" "03336" "03336" "2019-06-21 13:32:09" "" "" "SEQ-NG" "DNA" "peripheral blood" ""
"0000241604" "00240495" "1" "03336" "03336" "2019-06-21 13:42:44" "" "" "SEQ-NG" "DNA" "peripheral blood" ""
"0000241605" "00240496" "1" "03336" "03336" "2019-06-21 13:48:27" "" "" "SEQ-NG" "DNA" "peripheral blood" ""
"0000241607" "00240497" "1" "03336" "03336" "2019-06-21 13:54:13" "" "" "SEQ-NG" "DNA" "peripheral blood" ""
"0000241608" "00240499" "1" "03336" "03336" "2019-06-21 13:59:41" "" "" "SEQ-NG" "DNA" "peripheral blood" "gene panel"
"0000241609" "00240500" "1" "03336" "03336" "2019-06-21 14:07:09" "" "" "SEQ-NG" "DNA" "peripheral blood" "gene panel"
"0000241610" "00240501" "1" "03336" "03336" "2019-06-21 14:12:11" "" "" "SEQ-NG" "DNA" "peripheral blood" "gene panel"
"0000241612" "00240503" "1" "03336" "03336" "2019-06-21 14:22:18" "" "" "SEQ-NG" "DNA" "peripheral blood" "gene panel"
"0000241614" "00240505" "1" "03336" "03336" "2019-06-21 14:29:44" "" "" "SEQ-NG" "DNA" "peripheral blood" "gene panel"
"0000241615" "00240506" "1" "03336" "03336" "2019-06-21 14:35:19" "" "" "SEQ-NG" "DNA" "peripheral blood" "gene panel"
"0000241617" "00240507" "1" "03336" "03336" "2019-06-21 14:41:13" "" "" "SEQ-NG" "DNA" "peripheral blood" "gene panel"
"0000242339" "00241229" "1" "03336" "03336" "2019-06-21 14:46:58" "" "" "SEQ-NG" "DNA" "peripheral blood" "gene panel"
"0000242340" "00241230" "1" "03336" "03336" "2019-06-21 14:51:06" "" "" "SEQ-NG" "DNA" "peripheral blood" "gene panel"
"0000242342" "00241231" "1" "03336" "03336" "2019-06-21 14:56:29" "" "" "SEQ-NG" "DNA" "peripheral blood" "gene panel"
"0000242344" "00241233" "1" "03336" "03336" "2019-06-21 15:01:51" "" "" "SEQ-NG" "DNA" "peripheral blood" "gene panel"
"0000242346" "00241234" "1" "03336" "03336" "2019-06-21 15:05:50" "" "" "SEQ-NG" "DNA" "peripheral blood" "gene panel"
"0000242348" "00241237" "1" "03336" "03336" "2019-06-21 15:10:31" "" "" "SEQ-NG" "DNA" "peripheral blood" "gene panel"
"0000242350" "00241238" "1" "03336" "03336" "2019-06-21 15:16:36" "" "" "SEQ-NG" "DNA" "peripheral blood" "gene panel"
"0000242355" "00241243" "1" "03336" "03336" "2019-06-21 15:35:37" "" "" "SEQ-NG" "DNA" "peripheral blood" "gene panel"
"0000242357" "00241245" "1" "03336" "03336" "2019-06-21 15:40:03" "" "" "SEQ-NG" "DNA" "peripheral blood" "gene panel"
"0000242359" "00241247" "1" "03336" "03336" "2019-06-21 15:46:18" "" "" "SEQ-NG" "DNA" "peripheral blood" "gene panel"
"0000242367" "00241250" "1" "03336" "03336" "2019-06-21 16:06:01" "" "" "SEQ-NG" "DNA" "peripheral blood" "gene panel"
"0000243088" "00241976" "1" "03336" "03336" "2019-06-21 18:05:12" "" "" "SEQ-NG" "DNA" "peripheral blood" "gene panel"
"0000244418" "00243307" "1" "03336" "03336" "2019-06-21 18:41:37" "" "" "SEQ-NG" "DNA" "peripheral blood" ""
"0000244419" "00243308" "1" "03336" "03336" "2019-06-21 18:49:11" "" "" "SEQ-NG" "DNA" "peripheral blood" "gene panel"
"0000244420" "00243309" "1" "03336" "03336" "2019-06-21 18:54:20" "" "" "SEQ-NG" "DNA" "peripheral blood" "gene panel"
"0000245472" "00243310" "1" "03336" "03336" "2019-06-21 19:00:56" "" "" "SEQ-NG" "DNA" "peripheral blood" "gene panel"
"0000245473" "00244362" "1" "03336" "03336" "2019-06-21 19:05:04" "" "" "SEQ-NG" "DNA" "peripheral blood" "gene panel"
"0000245474" "00244363" "1" "03336" "03336" "2019-06-21 19:08:15" "" "" "SEQ-NG" "DNA" "peripheral blood" "gene panel"
"0000245475" "00244364" "1" "03336" "03336" "2019-06-21 19:11:31" "" "" "SEQ-NG" "DNA" "peripheral blood" "gene panel"
"0000245476" "00244365" "1" "03336" "03336" "2019-06-21 19:15:44" "" "" "SEQ-NG" "DNA" "peripheral blood" "gene panel"
"0000245477" "00244366" "1" "03336" "03336" "2019-06-21 19:20:43" "" "" "SEQ-NG" "DNA" "peripheral blood" "gene panel"
"0000245478" "00244367" "1" "03336" "03336" "2019-06-21 19:25:41" "" "" "SEQ-NG" "DNA" "peripheral blood" "gene panel"
"0000245479" "00244368" "1" "03336" "03336" "2019-06-21 19:28:18" "" "" "SEQ-NG" "DNA" "peripheral blood" "gene panel"
"0000245480" "00244370" "1" "03336" "03336" "2019-06-21 19:34:09" "" "" "SEQ-NG" "DNA" "peripheral blood" "gene panel"
"0000245482" "00244371" "1" "03336" "03336" "2019-06-21 19:37:26" "" "" "SEQ-NG" "DNA" "peripheral blood" "gene panel"
"0000245483" "00244372" "1" "03336" "03336" "2019-06-21 19:42:09" "" "" "SEQ-NG" "DNA" "peripheral blood" "gene panel"
"0000245484" "00244374" "1" "03336" "03336" "2019-06-21 19:45:25" "" "" "SEQ-NG" "DNA" "peripheral blood" "gene panel"
"0000245486" "00244375" "1" "03336" "03336" "2019-06-21 19:47:48" "" "" "SEQ-NG" "DNA" "peripheral blood" "gene panel"
"0000245487" "00244376" "1" "03336" "03336" "2019-06-21 19:51:01" "" "" "SEQ-NG" "DNA" "peripheral blood" "gene panel"
"0000245488" "00244377" "1" "03336" "03336" "2019-06-21 19:54:27" "" "" "SEQ-NG" "DNA" "peripheral blood" "gene panel"
"0000245489" "00244378" "1" "03336" "03336" "2019-06-21 19:58:05" "" "" "SEQ-NG" "DNA" "peripheral blood" "gene panel"
"0000245490" "00244379" "1" "03336" "03336" "2019-06-21 20:00:58" "" "" "SEQ-NG" "DNA" "peripheral blood" "gene panel"
"0000245491" "00244380" "1" "03336" "03336" "2019-06-21 20:04:30" "" "" "SEQ-NG" "DNA" "peripheral blood" "gene panel"
"0000245492" "00244381" "1" "03336" "03336" "2019-06-21 20:08:34" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000245493" "00244382" "1" "03336" "03336" "2019-06-21 20:11:38" "" "" "SEQ-NG" "DNA" "peripheral blood" "gene panel"
"0000245494" "00244383" "1" "03336" "03336" "2019-06-21 20:14:20" "" "" "SEQ-NG" "DNA" "peripheral blood" "gene panel"
"0000245495" "00244384" "1" "03336" "03336" "2019-06-21 20:19:29" "" "" "SEQ-NG" "DNA" "peripheral blood" "gene panel"
"0000245496" "00244385" "1" "03336" "03336" "2019-06-21 20:41:03" "" "" "SEQ-NG" "DNA" "peripheral blood" "gene panel"
"0000245497" "00244386" "1" "03336" "03336" "2019-06-21 20:45:35" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000245498" "00244387" "1" "03336" "03336" "2019-06-21 20:48:42" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000245499" "00244388" "1" "03336" "03336" "2019-06-21 20:51:39" "" "" "SEQ-NG" "DNA" "peripheral blood" "gene panel"
"0000245500" "00244389" "1" "03336" "03336" "2019-06-21 20:54:35" "" "" "SEQ-NG" "DNA" "peripheral blood" "gene panel"
"0000245501" "00244390" "1" "03336" "03336" "2019-06-21 20:57:35" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000245502" "00244391" "1" "03336" "03336" "2019-06-21 21:01:22" "" "" "SEQ-NG" "DNA" "peripheral blood" "gene panel"
"0000245503" "00244392" "1" "03336" "03336" "2019-06-21 21:05:27" "" "" "SEQ-NG" "DNA" "peripheral blood" "gene panel"
"0000245504" "00244393" "1" "03336" "03336" "2019-06-21 21:08:31" "" "" "SEQ-NG" "DNA" "peripheral blood" "gene panel"
"0000245505" "00244394" "1" "03336" "03336" "2019-06-21 21:11:19" "" "" "SEQ-NG" "DNA" "peripheral blood" "gene panel"
"0000245506" "00244395" "1" "03336" "03336" "2019-06-21 21:14:10" "" "" "SEQ-NG" "DNA" "peripheral blood" "gene panel"
"0000245507" "00244396" "1" "03336" "03336" "2019-06-21 21:16:42" "" "" "SEQ-NG" "DNA" "peripheral blood" "gene panel"
"0000245508" "00244397" "1" "03336" "03336" "2019-06-21 21:19:43" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000245509" "00244398" "1" "03336" "03336" "2019-06-21 21:22:15" "" "" "SEQ-NG" "DNA" "peripheral blood" "gene panel"
"0000245510" "00244399" "1" "03336" "03336" "2019-06-21 21:24:56" "" "" "SEQ-NG" "DNA" "peripheral blood" "gene panel"
"0000245511" "00244400" "1" "03336" "03336" "2019-06-21 21:27:49" "" "" "SEQ-NG" "DNA" "peripheral blood" "gene panel"
"0000245512" "00244401" "1" "03336" "03336" "2019-06-21 21:31:30" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000245513" "00244402" "1" "03336" "03336" "2019-06-21 21:34:18" "" "" "SEQ-NG" "DNA" "peripheral blood" "gene panel"
"0000245514" "00244403" "1" "03336" "03336" "2019-06-21 21:37:08" "" "" "SEQ-NG" "DNA" "peripheral blood" "gene panel"
"0000245515" "00244404" "1" "03336" "03336" "2019-06-21 21:40:06" "" "" "SEQ-NG" "DNA" "peripheral blood" "gene panel"
"0000245516" "00244405" "1" "03336" "03336" "2019-06-21 21:42:44" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000245517" "00244406" "1" "03336" "03336" "2019-06-21 21:45:39" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000245518" "00244407" "1" "03336" "03336" "2019-06-21 21:48:19" "" "" "SEQ-NG" "DNA" "peripheral blood" "gene panel"
"0000245519" "00244408" "1" "03336" "03336" "2019-06-21 21:50:33" "" "" "SEQ-NG" "DNA" "peripheral blood" "gene panel"
"0000245520" "00244409" "1" "03336" "03336" "2019-06-21 21:53:25" "" "" "SEQ-NG" "DNA" "peripheral blood" "gene panel"
"0000245521" "00244410" "1" "03336" "03336" "2019-06-21 21:55:35" "" "" "SEQ-NG" "DNA" "peripheral blood" "gene panel"
"0000245522" "00244411" "1" "03336" "03336" "2019-06-21 21:59:12" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000245524" "00244413" "1" "03336" "03336" "2019-06-21 22:01:47" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000245525" "00244414" "1" "03336" "03336" "2019-06-21 22:04:44" "" "" "SEQ-NG" "DNA" "peripheral blood" "gene panel"
"0000245526" "00244415" "1" "03336" "03336" "2019-06-21 22:07:20" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000245527" "00244416" "1" "03336" "03336" "2019-06-21 22:09:51" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000245528" "00244417" "1" "03336" "03336" "2019-06-21 22:12:23" "" "" "SEQ-NG" "DNA" "peripheral blood" "gene panel"
"0000245529" "00244418" "1" "03336" "03336" "2019-06-21 22:14:29" "" "" "SEQ-NG" "DNA" "peripheral blood" "gene panel"
"0000266607" "00265484" "1" "03433" "03433" "2019-09-26 11:18:41" "" "" "SEQ-NG" "DNA" "blood" "gene panel"
"0000266609" "00265487" "1" "03433" "03433" "2019-09-26 11:42:00" "" "" "SEQ-NG" "DNA" "blood" ""
"0000266611" "00265488" "1" "03433" "03433" "2019-09-26 11:50:35" "" "" "SEQ-NG" "DNA" "blood" ""
"0000266613" "00265490" "1" "03433" "03433" "2019-09-26 11:58:22" "" "" "SEQ-NG" "DNA" "blood" ""
"0000266630" "00265507" "1" "03433" "03433" "2019-09-26 12:04:55" "" "" "SEQ-NG" "DNA" "blood" ""
"0000266632" "00265509" "1" "03433" "03433" "2019-09-26 12:14:50" "" "" "SEQ-NG" "DNA" "blood" ""
"0000266633" "00265510" "1" "03433" "03433" "2019-09-26 12:22:27" "" "" "SEQ-NG" "DNA" "blood" ""
"0000266635" "00265512" "1" "03433" "03433" "2019-09-26 12:27:53" "" "" "SEQ-NG" "DNA" "blood" ""
"0000266636" "00265513" "1" "03433" "03433" "2019-09-26 12:34:18" "" "" "SEQ-NG" "DNA" "blood" ""
"0000270253" "00269122" "1" "01807" "01807" "2019-11-06 14:42:51" "" "" "SEQ" "DNA" "" ""
"0000276736" "00275578" "1" "01164" "01164" "2020-01-09 21:03:28" "" "" "SEQ-NG-S" "DNA" "" ""
"0000288263" "00287098" "1" "01807" "01807" "2020-02-12 11:23:53" "" "" "SEQ" "DNA" "" ""
"0000288265" "00287100" "1" "01807" "01807" "2020-02-12 11:23:57" "" "" "SEQ" "DNA" "" ""
"0000291095" "00289927" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000291096" "00289928" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000291097" "00289929" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000291098" "00289930" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000291099" "00289931" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000291100" "00289932" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000291101" "00289933" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000291102" "00289934" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000291103" "00289935" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000291104" "00289936" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000291105" "00289937" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000291106" "00289938" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000291107" "00289939" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000291108" "00289940" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000291109" "00289941" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000291111" "00289943" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000291112" "00289944" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000296624" "00295456" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000297201" "00296031" "1" "00006" "00006" "2020-04-03 10:14:20" "00006" "2020-04-03 10:25:05" "MLPA;SEQ" "DNA" "" "MLPA for ABCA4"
"0000300752" "00299642" "1" "00006" "00006" "2020-04-18 08:53:03" "00006" "2020-04-18 09:16:30" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WES"
"0000305344" "00304215" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000305345" "00304216" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000305346" "00304217" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000305347" "00304218" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000307086" "00305956" "1" "01164" "01164" "2020-07-06 11:44:01" "" "" "SEQ-NG-S" "DNA" "" ""
"0000307749" "00306613" "1" "01695" "00006" "2019-11-05 10:56:23" "" "" "PCRh;SEQ-NG" "DNA" "" ""
"0000307750" "00306614" "1" "01695" "00006" "2019-11-05 10:56:23" "" "" "PCRh;SEQ-NG" "DNA" "" ""
"0000307751" "00306615" "1" "01695" "00006" "2019-11-05 10:56:23" "" "" "PCRh;SEQ-NG" "DNA" "" ""
"0000307752" "00306616" "1" "01695" "00006" "2019-11-05 10:56:23" "" "" "PCRh;SEQ-NG" "DNA" "" ""
"0000307753" "00306617" "1" "01695" "00006" "2019-11-05 10:56:23" "" "" "PCRh;SEQ-NG" "DNA" "" ""
"0000307754" "00306618" "1" "01695" "00006" "2019-11-05 10:56:23" "" "" "PCRh;SEQ-NG" "DNA" "" ""
"0000307755" "00306619" "1" "01695" "00006" "2019-11-05 10:56:23" "" "" "PCRh;SEQ-NG" "DNA" "" ""
"0000307756" "00306620" "1" "01695" "00006" "2019-11-05 10:56:23" "" "" "PCRh;SEQ-NG" "DNA" "" ""
"0000307757" "00306621" "1" "01695" "00006" "2019-11-05 10:56:23" "" "" "PCRh;SEQ-NG" "DNA" "" ""
"0000307758" "00306622" "1" "01695" "00006" "2019-11-05 10:56:23" "" "" "PCRh;SEQ-NG" "DNA" "" ""
"0000307759" "00306623" "1" "01695" "00006" "2019-11-05 10:56:23" "" "" "PCRh;SEQ-NG" "DNA" "" ""
"0000307760" "00306624" "1" "01695" "00006" "2019-11-05 10:56:23" "" "" "PCRh;SEQ-NG" "DNA" "" ""
"0000307761" "00306625" "1" "01695" "00006" "2019-11-05 10:56:23" "" "" "PCRh;SEQ-NG" "DNA" "" ""
"0000307762" "00306626" "1" "01695" "00006" "2019-11-05 10:56:23" "" "" "PCRh;SEQ-NG" "DNA" "" ""
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"0000307764" "00306628" "1" "01695" "00006" "2019-11-05 10:56:23" "" "" "PCRh;SEQ-NG" "DNA" "" ""
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"0000307766" "00306630" "1" "01695" "00006" "2019-11-05 10:56:23" "" "" "PCRh;SEQ-NG" "DNA" "" ""
"0000307767" "00306631" "1" "01695" "00006" "2019-11-05 10:56:23" "" "" "PCRh;SEQ-NG" "DNA" "" ""
"0000307768" "00306632" "1" "01695" "00006" "2019-11-05 10:56:23" "" "" "PCRh;SEQ-NG" "DNA" "" ""
"0000307769" "00306633" "1" "01695" "00006" "2019-11-05 10:56:23" "" "" "PCRh;SEQ-NG" "DNA" "" ""
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"0000307771" "00306635" "1" "01695" "00006" "2019-11-05 10:56:23" "" "" "PCRh;SEQ-NG" "DNA" "" ""
"0000307772" "00306636" "1" "01695" "00006" "2019-11-05 10:56:23" "" "" "PCRh;SEQ-NG" "DNA" "" ""
"0000307773" "00306637" "1" "01695" "00006" "2019-11-05 10:56:23" "" "" "PCRh;SEQ-NG" "DNA" "" ""
"0000307774" "00306638" "1" "01695" "00006" "2019-11-05 10:56:23" "" "" "PCRh;SEQ-NG" "DNA" "" ""
"0000307775" "00306639" "1" "01695" "00006" "2019-11-05 10:56:23" "" "" "PCRh;SEQ-NG" "DNA" "" ""
"0000307776" "00306640" "1" "01695" "00006" "2019-11-05 10:56:23" "" "" "PCRh;SEQ-NG" "DNA" "" ""
"0000307777" "00306641" "1" "01695" "00006" "2019-11-05 10:56:23" "" "" "PCRh;SEQ-NG" "DNA" "" ""
"0000307778" "00306642" "1" "01695" "00006" "2019-11-05 10:56:23" "" "" "PCRh;SEQ-NG" "DNA" "" ""
"0000307779" "00306643" "1" "01695" "00006" "2019-11-05 10:56:23" "" "" "PCRh;SEQ-NG" "DNA" "" ""
"0000307780" "00306644" "1" "01695" "00006" "2019-11-05 10:56:23" "" "" "PCRh;SEQ-NG" "DNA" "" ""
"0000307781" "00306645" "1" "01695" "00006" "2019-11-05 10:56:23" "" "" "PCRh;SEQ-NG" "DNA" "" ""
"0000307782" "00306646" "1" "01695" "00006" "2019-11-05 10:56:23" "" "" "PCRh;SEQ-NG" "DNA" "" ""
"0000307783" "00306647" "1" "01695" "00006" "2019-11-05 10:56:23" "" "" "PCRh;SEQ-NG" "DNA" "" ""
"0000307784" "00306648" "1" "01695" "00006" "2019-11-05 10:56:23" "" "" "PCRh;SEQ-NG" "DNA" "" ""
"0000307785" "00306649" "1" "01695" "00006" "2019-11-05 10:56:23" "" "" "PCRh;SEQ-NG" "DNA" "" ""
"0000307786" "00306650" "1" "01695" "00006" "2019-11-05 10:56:23" "" "" "PCRh;SEQ-NG" "DNA" "" ""
"0000307787" "00306651" "1" "01695" "00006" "2019-11-05 10:56:23" "" "" "PCRh;SEQ-NG" "DNA" "" ""
"0000307788" "00306652" "1" "01695" "00006" "2019-11-05 10:56:23" "" "" "PCRh;SEQ-NG" "DNA" "" ""
"0000307789" "00306653" "1" "01695" "00006" "2019-11-05 10:56:23" "" "" "PCRh;SEQ-NG" "DNA" "" ""
"0000307790" "00306654" "1" "01695" "00006" "2019-11-05 10:56:23" "" "" "PCRh;SEQ-NG" "DNA" "" ""
"0000307791" "00306655" "1" "01695" "00006" "2019-11-05 10:56:23" "" "" "PCRh;SEQ-NG" "DNA" "" ""
"0000307792" "00306656" "1" "01695" "00006" "2019-11-05 10:56:23" "" "" "PCRh;SEQ-NG" "DNA" "" ""
"0000307793" "00306657" "1" "01695" "00006" "2019-11-05 10:56:23" "" "" "PCRh;SEQ-NG" "DNA" "" ""
"0000307794" "00306658" "1" "01695" "00006" "2019-11-05 10:56:23" "" "" "PCRh;SEQ-NG" "DNA" "" ""
"0000307795" "00306659" "1" "01695" "00006" "2019-11-05 10:56:23" "" "" "PCRh;SEQ-NG" "DNA" "" ""
"0000307796" "00306660" "1" "01695" "00006" "2019-11-05 10:56:23" "" "" "PCRh;SEQ-NG" "DNA" "" ""
"0000307797" "00306661" "1" "01695" "00006" "2019-11-05 10:56:23" "" "" "PCRh;SEQ-NG" "DNA" "" ""
"0000307798" "00306662" "1" "01695" "00006" "2019-11-05 10:56:23" "" "" "PCRh;SEQ-NG" "DNA" "" ""
"0000307855" "00306722" "1" "03336" "00006" "2020-07-16 12:17:04" "" "" "SEQ-NG" "DNA" "peripheral blood" "gene panel"
"0000307856" "00306723" "1" "00006" "00006" "2020-07-16 13:05:43" "" "" "SEQ-NG" "DNA" "peripheral blood" "gene panel"
"0000307857" "00306724" "1" "00006" "00006" "2020-07-16 13:05:43" "" "" "SEQ-NG" "DNA" "peripheral blood" "gene panel"
"0000307858" "00306725" "1" "00006" "00006" "2020-07-16 13:05:43" "" "" "SEQ-NG" "DNA" "peripheral blood" "gene panel"
"0000307859" "00306726" "1" "00006" "00006" "2020-07-16 13:05:43" "" "" "SEQ-NG" "DNA" "peripheral blood" "gene panel"
"0000309566" "00308421" "1" "00004" "00006" "2020-08-27 13:01:07" "" "" "SEQ" "DNA" "" ""
"0000309567" "00308422" "1" "00004" "00006" "2020-08-27 13:01:07" "" "" "SEQ" "DNA" "" ""
"0000309568" "00308423" "1" "00004" "00006" "2020-08-27 13:01:07" "" "" "SEQ" "DNA" "" ""
"0000309569" "00308424" "1" "00004" "00006" "2020-08-27 13:01:07" "" "" "SEQ" "DNA" "" ""
"0000309570" "00308425" "1" "00004" "00006" "2020-08-27 13:01:07" "" "" "SEQ" "DNA" "" ""
"0000309571" "00308426" "1" "00004" "00006" "2020-08-27 13:01:07" "" "" "SEQ" "DNA" "" ""
"0000309572" "00308427" "1" "00004" "00006" "2020-08-27 13:01:07" "" "" "SEQ" "DNA" "" ""
"0000309573" "00308428" "1" "00004" "00006" "2020-08-27 13:01:07" "" "" "SEQ" "DNA" "" ""
"0000309574" "00308429" "1" "00004" "00006" "2020-08-27 13:01:07" "" "" "SEQ" "DNA" "" ""
"0000309575" "00308430" "1" "00004" "00006" "2020-08-27 13:01:07" "" "" "SEQ" "DNA" "" ""
"0000309576" "00308431" "1" "00004" "00006" "2020-08-27 13:01:07" "" "" "SEQ" "DNA" "" ""
"0000309577" "00308432" "1" "00004" "00006" "2020-08-27 13:01:07" "" "" "SEQ" "DNA" "" ""
"0000309578" "00308433" "1" "00004" "00006" "2020-08-27 13:01:07" "" "" "SEQ" "DNA" "" ""
"0000309579" "00308434" "1" "00004" "00006" "2020-08-27 13:01:07" "" "" "SEQ" "DNA" "" ""
"0000309580" "00308435" "1" "00004" "00006" "2020-08-27 13:01:07" "" "" "SEQ" "DNA" "" ""
"0000309581" "00308436" "1" "00004" "00006" "2020-08-27 13:01:07" "" "" "SEQ" "DNA" "" ""
"0000309582" "00308437" "1" "00004" "00006" "2020-08-27 13:01:07" "" "" "SEQ" "DNA" "" ""
"0000309583" "00308438" "1" "00004" "00006" "2020-08-27 13:01:07" "" "" "SEQ" "DNA" "" ""
"0000309584" "00308439" "1" "00004" "00006" "2020-08-27 13:01:07" "" "" "SEQ" "DNA" "" ""
"0000309585" "00308440" "1" "00004" "00006" "2020-08-27 13:01:07" "" "" "SEQ" "DNA" "" ""
"0000309586" "00308441" "1" "00004" "00006" "2020-08-27 13:01:07" "" "" "SEQ" "DNA" "" ""
"0000309587" "00308442" "1" "00004" "00006" "2020-08-27 13:01:07" "" "" "SEQ" "DNA" "" ""
"0000309588" "00308443" "1" "00004" "00006" "2020-08-27 13:01:07" "" "" "SEQ" "DNA" "" ""
"0000309589" "00308444" "1" "00004" "00006" "2020-08-27 13:01:07" "" "" "SEQ" "DNA" "" ""
"0000309590" "00308445" "1" "00004" "00006" "2020-08-27 13:01:07" "" "" "SEQ" "DNA" "" ""
"0000309591" "00308446" "1" "00004" "00006" "2020-08-27 13:01:07" "" "" "SEQ" "DNA" "" ""
"0000309592" "00308447" "1" "00004" "00006" "2020-08-27 13:01:07" "" "" "SEQ" "DNA" "" ""
"0000309593" "00308448" "1" "00004" "00006" "2020-08-27 13:01:07" "" "" "SEQ" "DNA" "" ""
"0000309594" "00308449" "1" "00004" "00006" "2020-08-27 13:01:07" "" "" "SEQ" "DNA" "" ""
"0000309595" "00308450" "1" "00004" "00006" "2020-08-27 13:01:07" "" "" "SEQ" "DNA" "" ""
"0000309596" "00308451" "1" "00004" "00006" "2020-08-27 13:01:07" "" "" "SEQ" "DNA" "" ""
"0000309597" "00308452" "1" "00004" "00006" "2020-08-27 13:01:07" "" "" "SEQ" "DNA" "" ""
"0000309598" "00308453" "1" "00004" "00006" "2020-08-27 13:01:07" "" "" "SEQ" "DNA" "" ""
"0000309599" "00308454" "1" "00004" "00006" "2020-08-27 13:01:07" "" "" "SEQ" "DNA" "" ""
"0000309600" "00308455" "1" "00004" "00006" "2020-08-27 13:01:07" "" "" "SEQ" "DNA" "" ""
"0000309601" "00308456" "1" "00004" "00006" "2020-08-27 13:01:07" "" "" "SEQ" "DNA" "" ""
"0000309602" "00308457" "1" "00004" "00006" "2020-08-27 13:01:07" "" "" "SEQ" "DNA" "" ""
"0000309603" "00308458" "1" "00004" "00006" "2020-08-27 13:01:07" "" "" "SEQ" "DNA" "" ""
"0000309604" "00308459" "1" "00004" "00006" "2020-08-27 13:01:07" "" "" "SEQ" "DNA" "" ""
"0000309605" "00308460" "1" "00004" "00006" "2020-08-27 13:01:07" "" "" "SEQ" "DNA" "" ""
"0000309606" "00308461" "1" "00004" "00006" "2020-08-27 13:01:07" "" "" "SEQ" "DNA" "" ""
"0000309607" "00308462" "1" "00004" "00006" "2020-08-27 13:01:07" "" "" "SEQ" "DNA" "" ""
"0000309608" "00308463" "1" "00004" "00006" "2020-08-27 13:01:07" "" "" "SEQ" "DNA" "" ""
"0000309609" "00308464" "1" "00004" "00006" "2020-08-27 13:01:07" "" "" "SEQ" "DNA" "" ""
"0000309610" "00308465" "1" "00004" "00006" "2020-08-27 13:01:07" "" "" "SEQ" "DNA" "" ""
"0000309611" "00308466" "1" "00004" "00006" "2020-08-27 13:01:07" "" "" "SEQ" "DNA" "" ""
"0000309612" "00308467" "1" "00004" "00006" "2020-08-27 13:01:07" "" "" "SEQ" "DNA" "" ""
"0000309613" "00308468" "1" "00004" "00006" "2020-08-27 13:01:07" "" "" "SEQ" "DNA" "" ""
"0000309741" "00308596" "1" "00004" "00006" "2020-08-27 13:01:07" "" "" "SEQ" "DNA" "" ""
"0000309777" "00308632" "1" "00004" "00006" "2020-08-27 13:01:07" "" "" "SEQ" "DNA" "" ""
"0000309799" "00308654" "1" "00004" "00006" "2020-08-27 14:47:58" "" "" "SEQ;SEQ-NG" "DNA" "" "204 gene panel"
"0000309806" "00308661" "1" "00004" "00006" "2020-08-27 14:47:58" "" "" "SEQ;SEQ-NG" "DNA" "" "204 gene panel"
"0000309811" "00308666" "1" "00004" "00006" "2020-08-27 14:47:58" "" "" "SEQ;SEQ-NG" "DNA" "" "204 gene panel"
"0000309812" "00308667" "1" "00004" "00006" "2020-08-27 14:47:58" "" "" "SEQ;SEQ-NG" "DNA" "" "204 gene panel"
"0000309813" "00308668" "1" "00004" "00006" "2020-08-27 14:47:58" "" "" "SEQ;SEQ-NG" "DNA" "" "204 gene panel"
"0000309814" "00308669" "1" "00004" "00006" "2020-08-27 14:47:58" "" "" "SEQ;SEQ-NG" "DNA" "" "204 gene panel"
"0000309815" "00308670" "1" "00004" "00006" "2020-08-27 14:47:58" "" "" "SEQ;SEQ-NG" "DNA" "" "204 gene panel"
"0000309816" "00308671" "1" "00004" "00006" "2020-08-27 14:47:58" "" "" "SEQ;SEQ-NG" "DNA" "" "204 gene panel"
"0000309823" "00308678" "1" "00004" "00006" "2020-08-27 15:56:29" "" "" "SEQ;SEQ-NG" "DNA" "" "105 WGS/200 WES"
"0000309982" "00308837" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" ""
"0000309983" "00308838" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" ""
"0000309984" "00308839" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" ""
"0000309985" "00308840" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" ""
"0000309986" "00308841" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" ""
"0000309987" "00308842" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" ""
"0000309988" "00308843" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" ""
"0000309989" "00308844" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" ""
"0000309990" "00308845" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" ""
"0000309991" "00308846" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" ""
"0000309992" "00308847" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" ""
"0000309993" "00308848" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" ""
"0000309994" "00308849" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" ""
"0000309995" "00308850" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" ""
"0000309996" "00308851" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" ""
"0000309997" "00308852" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" ""
"0000309998" "00308853" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" ""
"0000309999" "00308854" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" ""
"0000310000" "00308855" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" ""
"0000310001" "00308856" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" ""
"0000310002" "00308857" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" ""
"0000310003" "00308858" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" ""
"0000310004" "00308859" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" ""
"0000310005" "00308860" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" ""
"0000310006" "00308861" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" ""
"0000310007" "00308862" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" ""
"0000310008" "00308863" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" ""
"0000310009" "00308864" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" ""
"0000310010" "00308865" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" ""
"0000310011" "00308866" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" ""
"0000310012" "00308867" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" ""
"0000310013" "00308868" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" ""
"0000310014" "00308869" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" ""
"0000310015" "00308870" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" ""
"0000310016" "00308871" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" ""
"0000310017" "00308872" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" ""
"0000310018" "00308873" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" ""
"0000310019" "00308874" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" ""
"0000310020" "00308875" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" ""
"0000310021" "00308876" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" ""
"0000310022" "00308877" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" ""
"0000310023" "00308878" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" ""
"0000310024" "00308879" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" ""
"0000310025" "00308880" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" ""
"0000310026" "00308881" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" ""
"0000310027" "00308882" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" ""
"0000310028" "00308883" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" ""
"0000310029" "00308884" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" ""
"0000310030" "00308885" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" ""
"0000310031" "00308886" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" ""
"0000310032" "00308887" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" ""
"0000310033" "00308888" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" ""
"0000310034" "00308889" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" ""
"0000310035" "00308890" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" ""
"0000310036" "00308891" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" ""
"0000310037" "00308892" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" ""
"0000310038" "00308893" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" ""
"0000310039" "00308894" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" ""
"0000310040" "00308895" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" ""
"0000310041" "00308896" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" ""
"0000310042" "00308897" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" ""
"0000310043" "00308898" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" ""
"0000310044" "00308899" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" ""
"0000310045" "00308900" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" ""
"0000310046" "00308901" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" ""
"0000310047" "00308902" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" ""
"0000310048" "00308903" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" ""
"0000310049" "00308904" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" ""
"0000310050" "00308905" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" ""
"0000310051" "00308906" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" ""
"0000310052" "00308907" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" ""
"0000310053" "00308908" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" ""
"0000310054" "00308909" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" ""
"0000310055" "00308910" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" ""
"0000310056" "00308911" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" ""
"0000310057" "00308912" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" ""
"0000310058" "00308913" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" ""
"0000310059" "00308914" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" ""
"0000310060" "00308915" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" ""
"0000310061" "00308916" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" ""
"0000310062" "00308917" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" ""
"0000310063" "00308918" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" ""
"0000310064" "00308919" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" ""
"0000310065" "00308920" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" ""
"0000310066" "00308921" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" ""
"0000310827" "00309682" "1" "00006" "00006" "2020-08-31 19:56:42" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" ""
"0000311189" "00310040" "1" "03336" "03336" "2020-09-08 13:28:31" "" "" "SEQ-NG" "DNA" "peripheral blood" "gene panel"
"0000311191" "00310043" "1" "03336" "03336" "2020-09-08 13:52:39" "" "" "SEQ-NG" "DNA" "peripheral blood" "gene panel"
"0000311192" "00310044" "1" "03336" "03336" "2020-09-08 14:03:45" "" "" "SEQ-NG" "DNA" "peripheral blood" "gene panel"
"0000311193" "00310046" "1" "03336" "03336" "2020-09-08 14:10:12" "" "" "SEQ-NG" "DNA" "peripheral blood" "gene panel"
"0000311195" "00310048" "1" "03336" "03336" "2020-09-08 14:16:19" "" "" "SEQ-NG" "DNA" "peripheral blood" "gene panel"
"0000311197" "00310049" "1" "03336" "03336" "2020-09-08 14:24:51" "" "" "SEQ-NG" "DNA" "peripheral blood" "gene panel"
"0000311198" "00310050" "1" "03336" "03336" "2020-09-08 14:31:45" "" "" "SEQ-NG" "DNA" "peripheral blood" "gene panel"
"0000311199" "00310051" "1" "03336" "03336" "2020-09-08 14:38:41" "" "" "SEQ-NG" "DNA" "peripheral blood" "gene panel"
"0000311200" "00310053" "1" "03336" "03336" "2020-09-08 14:43:17" "" "" "SEQ-NG" "DNA" "peripheral blood" "gene panel"
"0000311201" "00310054" "1" "03336" "03336" "2020-09-08 14:48:35" "" "" "SEQ-NG" "DNA" "peripheral blood" "gene panel"
"0000311202" "00310055" "1" "03336" "03336" "2020-09-08 14:54:12" "" "" "SEQ-NG" "DNA" "peripheral blood" "gene panel"
"0000311203" "00310056" "1" "03336" "03336" "2020-09-08 15:01:38" "" "" "SEQ-NG" "DNA" "peripheral blood" "gene panel"
"0000312191" "00311039" "1" "01164" "01164" "2020-09-14 10:38:01" "" "" "SEQ-NG-S" "DNA" "" ""
"0000321004" "00319823" "1" "00008" "00008" "2020-11-08 09:25:19" "" "" "SSCA;SEQ;DGGE" "DNA" "" ""
"0000321005" "00319824" "1" "00008" "00008" "2020-11-08 09:25:19" "" "" "SSCA;SEQ;DGGE" "DNA" "" ""
"0000321253" "00320005" "1" "03846" "03846" "2020-11-21 05:28:34" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000321254" "00320069" "1" "03846" "03846" "2020-11-22 17:11:18" "03846" "2020-11-22 18:10:41" "SEQ-NG" "DNA" "" "gene panel"
"0000321255" "00320070" "1" "03846" "03846" "2020-11-22 18:02:03" "03846" "2020-11-22 18:07:44" "SEQ-NG" "DNA" "" "gene panel"
"0000321256" "00320071" "1" "03846" "03846" "2020-11-22 18:27:48" "" "" "SEQ-NG" "DNA" "" ""
"0000321257" "00320072" "1" "03846" "03846" "2020-11-22 18:36:26" "" "" "PCR" "DNA" "" ""
"0000321258" "00320073" "1" "03846" "03846" "2020-11-22 18:49:42" "" "" "PCR" "DNA" "" ""
"0000321362" "00320177" "1" "01807" "01807" "2020-11-23 17:50:01" "" "" "SEQ" "DNA" "" ""
"0000321384" "00320199" "1" "03846" "03846" "2020-11-24 04:12:16" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000321385" "00320200" "1" "03846" "03846" "2020-11-24 04:19:45" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000321386" "00320201" "1" "03846" "03846" "2020-11-24 04:26:09" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000321387" "00320202" "1" "03846" "03846" "2020-11-24 04:45:51" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000321388" "00320203" "1" "03846" "03846" "2020-11-24 04:50:36" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000321389" "00320204" "1" "03846" "03846" "2020-11-24 04:55:13" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000321390" "00320205" "1" "03846" "03846" "2020-11-24 05:01:33" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000321391" "00320206" "1" "03846" "03846" "2020-11-24 05:32:05" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000321392" "00320207" "1" "03846" "03846" "2020-11-24 05:36:34" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000321393" "00320208" "1" "03846" "03846" "2020-11-24 05:42:02" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000321420" "00320234" "1" "03846" "03846" "2020-11-25 07:56:49" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000321421" "00320235" "1" "03846" "03846" "2020-11-25 08:22:15" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000321422" "00320236" "1" "03846" "03846" "2020-11-25 08:29:37" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000321423" "00320237" "1" "03846" "03846" "2020-11-25 08:34:30" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000321424" "00320238" "1" "03846" "03846" "2020-11-25 08:41:23" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000321425" "00320239" "1" "03846" "03846" "2020-11-25 09:15:47" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000321426" "00320240" "1" "03846" "03846" "2020-11-25 09:19:27" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000321427" "00320241" "1" "03846" "03846" "2020-11-25 09:22:52" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000321428" "00320242" "1" "03846" "03846" "2020-11-25 09:28:10" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000321432" "00320246" "1" "03846" "03846" "2020-11-25 10:06:51" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000321433" "00320247" "1" "03846" "03846" "2020-11-25 10:11:31" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000321434" "00320248" "1" "03846" "03846" "2020-11-25 10:17:46" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000321435" "00320249" "1" "03846" "03846" "2020-11-25 10:21:35" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000321511" "00320325" "1" "03846" "03846" "2020-11-27 12:57:06" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000321512" "00320326" "1" "03846" "03846" "2020-11-27 13:01:41" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000321513" "00320327" "1" "03846" "03846" "2020-11-27 13:04:39" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000321514" "00320328" "1" "03846" "03846" "2020-11-27 13:11:08" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000321515" "00320329" "1" "03846" "03846" "2020-11-27 13:18:15" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000321516" "00320330" "1" "03846" "03846" "2020-11-27 13:23:10" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000321517" "00320331" "1" "03846" "03846" "2020-11-27 13:26:40" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000321538" "00320352" "1" "03846" "03846" "2020-11-27 13:43:18" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000321539" "00320353" "1" "03846" "03846" "2020-11-27 13:47:17" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000321540" "00320354" "1" "03846" "03846" "2020-11-27 13:52:14" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000321541" "00320355" "1" "03846" "03846" "2020-11-27 13:55:50" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000321542" "00320356" "1" "03846" "03846" "2020-11-27 13:59:29" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000321625" "00320438" "1" "03846" "03846" "2020-11-30 12:12:48" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000321626" "00320439" "1" "03846" "03846" "2020-11-30 12:17:36" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000321627" "00320440" "1" "03846" "03846" "2020-11-30 12:21:14" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000321628" "00320442" "1" "03846" "03846" "2020-11-30 12:26:05" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000321637" "00320448" "1" "03846" "03846" "2020-11-30 14:29:40" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000321640" "00320451" "1" "03846" "03846" "2020-11-30 14:47:56" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000321642" "00320453" "1" "03846" "03846" "2020-11-30 14:55:56" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000321643" "00320454" "1" "03846" "03846" "2020-11-30 15:00:18" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000321645" "00320456" "1" "03846" "03846" "2020-11-30 15:14:22" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000321646" "00320457" "1" "03846" "03846" "2020-11-30 15:18:56" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000321648" "00320459" "1" "03846" "03846" "2020-11-30 15:21:56" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000321649" "00320460" "1" "03846" "03846" "2020-11-30 15:25:52" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000324012" "00322823" "1" "03846" "03846" "2020-11-30 15:29:57" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000325336" "00324146" "1" "03846" "03846" "2020-12-03 07:06:16" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000325337" "00324147" "1" "03846" "03846" "2020-12-03 07:09:44" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000325338" "00324148" "1" "03846" "03846" "2020-12-03 07:14:01" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000325339" "00324149" "1" "03846" "03846" "2020-12-03 07:17:53" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000325340" "00324150" "1" "03846" "03846" "2020-12-03 07:22:03" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000325341" "00324151" "1" "03846" "03846" "2020-12-03 07:25:31" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000325342" "00324152" "1" "03846" "03846" "2020-12-03 07:32:26" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000325343" "00324153" "1" "03846" "03846" "2020-12-03 07:36:50" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000325344" "00324154" "1" "03846" "03846" "2020-12-03 07:41:25" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000325345" "00324155" "1" "03846" "03846" "2020-12-03 08:13:05" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000325346" "00324156" "1" "03846" "03846" "2020-12-03 08:16:49" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000325753" "00324518" "1" "03957" "03957" "2020-12-19 10:45:05" "" "" "SEQ-NG" "DNA" "-" "gene panel"
"0000325754" "00324520" "1" "03957" "03957" "2020-12-19 17:26:48" "" "" "SEQ-NG" "DNA" "-" "gene panel"
"0000325755" "00324560" "1" "03957" "03957" "2020-12-19 18:05:06" "" "" "SEQ-NG" "DNA" "-" "gene panel"
"0000325756" "00324561" "1" "03957" "03957" "2020-12-19 18:19:04" "" "" "SEQ-NG" "DNA" "-" "gene panel"
"0000325757" "00324562" "1" "03957" "03957" "2020-12-19 18:31:54" "03957" "2021-01-01 12:52:20" "SEQ-NG" "DNA" "-" "gene panel"
"0000325777" "00324579" "1" "03957" "03957" "2020-12-20 10:37:00" "" "" "SEQ-NG" "DNA" "-" "gene panel"
"0000325779" "00324580" "1" "03957" "03957" "2020-12-20 12:22:02" "" "" "SEQ-NG" "DNA" "-" "gene panel"
"0000325780" "00324581" "1" "03957" "03957" "2020-12-20 12:32:26" "" "" "SEQ-NG" "DNA" "-" "gene panel"
"0000325781" "00324582" "1" "03957" "03957" "2020-12-20 12:44:16" "" "" "SEQ-NG" "DNA" "-" "gene panel"
"0000325783" "00324584" "1" "03957" "03957" "2020-12-20 12:55:36" "" "" "SEQ-NG" "DNA" "-" "gene panel"
"0000325784" "00324585" "1" "03957" "03957" "2020-12-20 13:03:24" "" "" "SEQ-NG" "DNA" "-" "gene panel"
"0000325785" "00324586" "1" "03957" "03957" "2020-12-20 13:11:50" "" "" "SEQ-NG" "DNA" "-" "gene panel"
"0000325786" "00324587" "1" "03957" "03957" "2020-12-20 13:17:40" "" "" "SEQ-NG" "DNA" "-" "gene panel"
"0000325787" "00324588" "1" "03957" "03957" "2020-12-20 13:31:31" "" "" "SEQ-NG" "DNA" "-" "gene panel"
"0000325788" "00324589" "1" "03957" "03957" "2020-12-20 13:37:37" "" "" "SEQ-NG" "DNA" "-" "gene panel"
"0000325789" "00324590" "1" "03957" "03957" "2020-12-20 13:43:53" "" "" "SEQ-NG" "DNA" "-" "gene panel"
"0000325790" "00324591" "1" "03957" "03957" "2020-12-20 13:57:29" "" "" "SEQ-NG" "DNA" "-" "gene panel"
"0000326632" "00325421" "1" "00006" "00006" "2021-01-03 11:36:11" "" "" "SEQ;SEQ-NG" "DNA" "" "199 gene panel"
"0000326668" "00325457" "1" "00006" "00006" "2021-01-03 11:36:11" "" "" "SEQ;SEQ-NG" "DNA" "" "199 gene panel"
"0000326681" "00325470" "1" "00006" "00006" "2021-01-03 11:36:11" "" "" "SEQ;SEQ-NG" "DNA" "" "199 gene panel"
"0000326686" "00325475" "1" "00006" "00006" "2021-01-03 11:36:11" "" "" "SEQ;SEQ-NG" "DNA" "" "199 gene panel"
"0000326690" "00325479" "1" "00006" "00006" "2021-01-03 11:36:11" "" "" "SEQ;SEQ-NG" "DNA" "" "199 gene panel"
"0000326696" "00325485" "1" "00006" "00006" "2021-01-03 11:36:11" "" "" "SEQ;SEQ-NG" "DNA" "" "199 gene panel"
"0000326700" "00325489" "1" "00006" "00006" "2021-01-03 11:36:11" "" "" "SEQ;SEQ-NG" "DNA" "" "199 gene panel"
"0000326706" "00325495" "1" "00006" "00006" "2021-01-03 11:36:11" "" "" "SEQ;SEQ-NG" "DNA" "" "199 gene panel"
"0000327908" "00326695" "1" "00008" "00008" "2021-01-14 12:28:06" "" "" "arraySEQ" "DNA" "blood" ""
"0000327910" "00326697" "1" "00008" "00008" "2021-01-14 12:28:06" "" "" "arraySEQ" "DNA" "blood" ""
"0000327912" "00326699" "1" "00008" "00008" "2021-01-14 12:28:06" "" "" "arraySEQ" "DNA" "blood" ""
"0000327913" "00326700" "1" "00008" "00008" "2021-01-14 12:28:06" "" "" "arraySEQ" "DNA" "blood" ""
"0000327914" "00326701" "1" "00008" "00008" "2021-01-14 12:28:06" "" "" "arraySEQ" "DNA" "blood" ""
"0000328606" "00327394" "1" "03980" "03980" "2021-01-20 19:59:45" "03980" "2021-01-20 20:03:17" "SEQ-NG" "DNA" "" "WES/Deep Intronic Sequencing"
"0000329127" "00327912" "1" "00000" "00006" "2021-01-27 12:09:59" "" "" "SEQ-NG" "DNA" "" "WES"
"0000329129" "00327914" "1" "00000" "00006" "2021-01-27 12:09:59" "" "" "SEQ-NG" "DNA" "" "WES"
"0000329133" "00327918" "1" "00000" "00006" "2021-01-27 12:09:59" "" "" "SEQ-NG" "DNA" "" "WES"
"0000329166" "00327951" "1" "00000" "00006" "2021-01-27 12:09:59" "" "" "SEQ-NG" "DNA" "" "WES"
"0000329175" "00327960" "1" "00000" "00006" "2021-01-27 12:09:59" "" "" "SEQ-NG" "DNA" "" "WES"
"0000329187" "00327972" "1" "00000" "00006" "2021-01-27 12:09:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000329226" "00328011" "1" "00000" "00006" "2021-01-27 12:09:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000329237" "00328022" "1" "00000" "00006" "2021-01-27 12:09:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000329244" "00328029" "1" "00000" "00006" "2021-01-27 12:09:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000329250" "00328035" "1" "00000" "00006" "2021-01-27 12:09:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000329254" "00328039" "1" "00000" "00006" "2021-01-27 12:09:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000329262" "00328047" "1" "00000" "00006" "2021-01-27 12:09:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000329264" "00328049" "1" "00000" "00006" "2021-01-27 12:09:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000329269" "00328054" "1" "00000" "00006" "2021-01-27 12:09:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000329279" "00328064" "1" "00000" "00006" "2021-01-27 12:09:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000329280" "00328065" "1" "00000" "00006" "2021-01-27 12:09:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000329286" "00328071" "1" "00000" "00006" "2021-01-27 12:09:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000329294" "00328079" "1" "00000" "00006" "2021-01-27 12:09:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000329317" "00328102" "1" "00000" "00006" "2021-01-27 12:09:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000329323" "00328108" "1" "00000" "00006" "2021-01-27 12:09:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000329328" "00328113" "1" "00000" "00006" "2021-01-27 12:09:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000329337" "00328122" "1" "00000" "00006" "2021-01-27 12:09:59" "" "" "SEQ-NG" "DNA" "" "WES and WGS"
"0000329342" "00328127" "1" "00000" "00006" "2021-01-27 12:09:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000329349" "00328134" "1" "00000" "00006" "2021-01-27 12:09:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000329362" "00328147" "1" "00000" "00006" "2021-01-27 12:09:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000329366" "00328151" "1" "00000" "00006" "2021-01-27 12:09:59" "" "" "SEQ-NG" "DNA" "" "WES and WGS"
"0000329394" "00328179" "1" "00000" "00006" "2021-01-27 12:09:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000329395" "00328180" "1" "00000" "00006" "2021-01-27 12:09:59" "" "" "SEQ-NG" "DNA" "" "WGS"
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"0000329407" "00328192" "1" "00000" "00006" "2021-01-27 12:09:59" "" "" "SEQ-NG" "DNA" "" "WGS"
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"0000329422" "00328207" "1" "00000" "00006" "2021-01-27 12:09:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000329427" "00328212" "1" "00000" "00006" "2021-01-27 12:09:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000329428" "00328213" "1" "00000" "00006" "2021-01-27 12:09:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000329429" "00328214" "1" "00000" "00006" "2021-01-27 12:09:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000329430" "00328215" "1" "00000" "00006" "2021-01-27 12:09:59" "" "" "SEQ-NG" "DNA" "" "WGS"
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"0000329439" "00328224" "1" "00000" "00006" "2021-01-27 12:09:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000329440" "00328225" "1" "00000" "00006" "2021-01-27 12:09:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000329441" "00328226" "1" "00000" "00006" "2021-01-27 12:09:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000329442" "00328227" "1" "00000" "00006" "2021-01-27 12:09:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000329443" "00328228" "1" "00000" "00006" "2021-01-27 12:09:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000329445" "00328230" "1" "00000" "00006" "2021-01-27 12:09:59" "" "" "SEQ-NG" "DNA" "" "WGS"
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"0000329453" "00328238" "1" "00000" "00006" "2021-01-27 12:09:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000329454" "00328239" "1" "00000" "00006" "2021-01-27 12:09:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000329457" "00328242" "1" "00000" "00006" "2021-01-27 12:09:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000329458" "00328243" "1" "00000" "00006" "2021-01-27 12:09:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000329470" "00328255" "1" "00000" "00006" "2021-01-27 12:09:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000329472" "00328257" "1" "00000" "00006" "2021-01-27 12:09:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000329474" "00328259" "1" "00000" "00006" "2021-01-27 12:09:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000329475" "00328260" "1" "00000" "00006" "2021-01-27 12:09:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000329479" "00328264" "1" "00000" "00006" "2021-01-27 12:09:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000329483" "00328268" "1" "00000" "00006" "2021-01-27 12:09:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000329484" "00328269" "1" "00000" "00006" "2021-01-27 12:09:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000329492" "00328277" "1" "00000" "00006" "2021-01-27 12:09:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000329494" "00328279" "1" "00000" "00006" "2021-01-27 12:09:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000329516" "00328301" "1" "00000" "00006" "2021-01-27 12:09:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000329521" "00328306" "1" "00000" "00006" "2021-01-27 12:09:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000329522" "00328307" "1" "00000" "00006" "2021-01-27 12:09:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000329549" "00328334" "1" "00000" "00006" "2021-01-27 12:09:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000329557" "00328342" "1" "00000" "00006" "2021-01-27 12:09:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000329670" "00328455" "1" "00000" "00006" "2021-01-28 09:35:56" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000329671" "00328456" "1" "00000" "00006" "2021-01-28 09:35:56" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000329677" "00328462" "1" "00000" "00006" "2021-01-28 09:35:56" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000329678" "00328463" "1" "00000" "00006" "2021-01-28 09:35:56" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000329679" "00328464" "1" "00000" "00006" "2021-01-28 09:35:56" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000329680" "00328465" "1" "00000" "00006" "2021-01-28 09:35:56" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000329681" "00328466" "1" "00000" "00006" "2021-01-28 09:35:56" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000329701" "00328486" "1" "00000" "00006" "2021-01-28 09:35:56" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000329728" "00328513" "1" "00000" "00006" "2021-01-28 09:35:56" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000329729" "00328514" "1" "00000" "00006" "2021-01-28 09:35:56" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000329730" "00328515" "1" "00000" "00006" "2021-01-28 09:35:56" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000329731" "00328516" "1" "00000" "00006" "2021-01-28 09:35:56" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000329732" "00328517" "1" "00000" "00006" "2021-01-28 09:35:56" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000332517" "00331298" "1" "00000" "00006" "2021-02-11 11:33:52" "" "" "SEQ" "DNA" "" ""
"0000333082" "00331863" "1" "00000" "00006" "2021-02-14 10:12:05" "" "" "SEQ" "DNA" "" ""
"0000333083" "00331864" "1" "00000" "00006" "2021-02-14 10:12:05" "" "" "SEQ-NG" "DNA" "" ""
"0000333084" "00331865" "1" "00000" "00006" "2021-02-14 10:12:05" "" "" "SEQ" "DNA" "" ""
"0000333085" "00331866" "1" "00000" "00006" "2021-02-14 10:12:05" "" "" "SEQ" "DNA" "" ""
"0000333086" "00331867" "1" "00000" "00006" "2021-02-14 10:12:05" "" "" "SEQ" "DNA" "" ""
"0000333087" "00331868" "1" "00000" "00006" "2021-02-14 10:12:05" "" "" "SEQ-NG" "DNA" "" ""
"0000333088" "00331869" "1" "00000" "00006" "2021-02-14 10:12:05" "" "" "SEQ" "DNA" "" ""
"0000333089" "00331870" "1" "00000" "00006" "2021-02-14 10:12:05" "" "" "SEQ-NG" "DNA" "" ""
"0000333090" "00331871" "1" "00000" "00006" "2021-02-14 10:12:05" "" "" "SEQ" "DNA" "" ""
"0000333091" "00331872" "1" "00000" "00006" "2021-02-14 10:12:05" "" "" "SEQ" "DNA" "" ""
"0000333092" "00331873" "1" "00000" "00006" "2021-02-14 10:12:05" "" "" "SEQ-NG" "DNA" "" ""
"0000333093" "00331874" "1" "00000" "00006" "2021-02-14 10:12:05" "" "" "SEQ" "DNA" "" ""
"0000333094" "00331875" "1" "00000" "00006" "2021-02-14 10:12:05" "" "" "SEQ-NG" "DNA" "" ""
"0000333095" "00331876" "1" "00000" "00006" "2021-02-14 10:12:05" "" "" "SEQ-NG" "DNA" "" ""
"0000333096" "00331877" "1" "00000" "00006" "2021-02-14 10:12:05" "" "" "SEQ-NG" "DNA" "" ""
"0000333097" "00331878" "1" "00000" "00006" "2021-02-14 10:12:05" "" "" "SEQ" "DNA" "" ""
"0000333098" "00331879" "1" "00000" "00006" "2021-02-14 10:12:05" "" "" "SEQ" "DNA" "" ""
"0000333099" "00331880" "1" "00000" "00006" "2021-02-14 10:12:05" "" "" "SEQ" "DNA" "" ""
"0000333100" "00331881" "1" "00000" "00006" "2021-02-14 10:12:05" "" "" "SEQ" "DNA" "" ""
"0000333101" "00331882" "1" "00000" "00006" "2021-02-14 10:12:05" "" "" "SEQ" "DNA" "" ""
"0000333102" "00331883" "1" "00000" "00006" "2021-02-14 10:12:05" "" "" "SEQ-NG" "DNA" "" ""
"0000333103" "00331884" "1" "00000" "00006" "2021-02-14 10:12:05" "" "" "SEQ" "DNA" "" ""
"0000333104" "00331885" "1" "00000" "00006" "2021-02-14 10:12:05" "" "" "SEQ" "DNA" "" ""
"0000333105" "00331886" "1" "00000" "00006" "2021-02-14 10:12:05" "" "" "SEQ" "DNA" "" ""
"0000333106" "00331887" "1" "00000" "00006" "2021-02-14 10:12:05" "" "" "SEQ-NG" "DNA" "" ""
"0000333107" "00331888" "1" "00000" "00006" "2021-02-14 10:12:05" "" "" "SEQ-NG" "DNA" "" ""
"0000333108" "00331889" "1" "00000" "00006" "2021-02-14 10:12:05" "" "" "SEQ" "DNA" "" ""
"0000333109" "00331890" "1" "00000" "00006" "2021-02-14 10:12:05" "" "" "SEQ" "DNA" "" ""
"0000333110" "00331891" "1" "00000" "00006" "2021-02-14 10:12:05" "" "" "SEQ-NG" "DNA" "" ""
"0000333111" "00331892" "1" "00000" "00006" "2021-02-14 10:12:05" "" "" "SEQ" "DNA" "" ""
"0000333112" "00331893" "1" "00000" "00006" "2021-02-14 10:12:05" "" "" "SEQ-NG" "DNA" "" ""
"0000333113" "00331894" "1" "00000" "00006" "2021-02-14 10:12:05" "" "" "SEQ" "DNA" "" ""
"0000333114" "00331895" "1" "00000" "00006" "2021-02-14 10:12:05" "" "" "SEQ" "DNA" "" ""
"0000333115" "00331896" "1" "00000" "00006" "2021-02-14 10:12:05" "" "" "SEQ-NG" "DNA" "" ""
"0000333116" "00331897" "1" "00000" "00006" "2021-02-14 10:12:05" "" "" "SEQ" "DNA" "" ""
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"0000333118" "00331899" "1" "00000" "00006" "2021-02-14 10:12:05" "" "" "SEQ" "DNA" "" ""
"0000333119" "00331900" "1" "00000" "00006" "2021-02-14 10:12:05" "" "" "SEQ" "DNA" "" ""
"0000333120" "00331901" "1" "00000" "00006" "2021-02-14 10:12:05" "" "" "SEQ" "DNA" "" ""
"0000333121" "00331902" "1" "00000" "00006" "2021-02-14 10:12:05" "" "" "SEQ" "DNA" "" ""
"0000333122" "00331903" "1" "00000" "00006" "2021-02-14 10:12:05" "" "" "SEQ" "DNA" "" ""
"0000333123" "00331904" "1" "00000" "00006" "2021-02-14 10:12:05" "" "" "SEQ" "DNA" "" ""
"0000333124" "00331905" "1" "00000" "00006" "2021-02-14 10:12:05" "" "" "SEQ" "DNA" "" ""
"0000333125" "00331906" "1" "00000" "00006" "2021-02-14 10:12:05" "" "" "SEQ" "DNA" "" ""
"0000333126" "00331907" "1" "00000" "00006" "2021-02-14 10:12:05" "" "" "SEQ" "DNA" "" ""
"0000333127" "00331908" "1" "00000" "00006" "2021-02-14 10:12:05" "" "" "SEQ-NG" "DNA" "" ""
"0000333128" "00331909" "1" "00000" "00006" "2021-02-14 10:12:05" "" "" "SEQ" "DNA" "" ""
"0000333129" "00331910" "1" "00000" "00006" "2021-02-14 10:12:05" "" "" "SEQ-NG" "DNA" "" ""
"0000333130" "00331911" "1" "00000" "00006" "2021-02-14 10:12:05" "" "" "SEQ" "DNA" "" ""
"0000333131" "00331912" "1" "00000" "00006" "2021-02-14 10:12:05" "" "" "SEQ" "DNA" "" ""
"0000333132" "00331913" "1" "00000" "00006" "2021-02-14 10:12:05" "" "" "SEQ" "DNA" "" ""
"0000333133" "00331914" "1" "00000" "00006" "2021-02-14 10:12:05" "" "" "SEQ-NG" "DNA" "" ""
"0000333134" "00331915" "1" "00000" "00006" "2021-02-14 10:12:05" "" "" "SEQ" "DNA" "" ""
"0000333135" "00331916" "1" "00000" "00006" "2021-02-14 10:12:05" "" "" "SEQ-NG" "DNA" "" ""
"0000333136" "00331917" "1" "00000" "00006" "2021-02-14 10:12:05" "" "" "SEQ" "DNA" "" ""
"0000333137" "00331918" "1" "00000" "00006" "2021-02-14 10:12:05" "" "" "SEQ" "DNA" "" ""
"0000333138" "00331919" "1" "00000" "00006" "2021-02-14 10:12:05" "" "" "SEQ" "DNA" "" ""
"0000333139" "00331920" "1" "00000" "00006" "2021-02-14 10:12:05" "" "" "SEQ" "DNA" "" ""
"0000333140" "00331921" "1" "00000" "00006" "2021-02-14 10:12:05" "" "" "SEQ" "DNA" "" ""
"0000333141" "00331922" "1" "00000" "00006" "2021-02-14 10:12:05" "" "" "SEQ-NG" "DNA" "" ""
"0000333142" "00331923" "1" "00000" "00006" "2021-02-14 10:12:05" "" "" "SEQ" "DNA" "" ""
"0000333143" "00331924" "1" "00000" "00006" "2021-02-14 10:12:05" "" "" "SEQ" "DNA" "" ""
"0000333144" "00331925" "1" "00000" "00006" "2021-02-14 10:12:05" "" "" "SEQ" "DNA" "" ""
"0000333145" "00331926" "1" "00000" "00006" "2021-02-14 10:12:05" "" "" "SEQ" "DNA" "" ""
"0000333146" "00331927" "1" "00000" "00006" "2021-02-14 10:12:05" "" "" "SEQ-NG" "DNA" "" ""
"0000333147" "00331928" "1" "00000" "00006" "2021-02-14 10:12:05" "" "" "SEQ" "DNA" "" ""
"0000333148" "00331929" "1" "00000" "00006" "2021-02-14 10:12:05" "" "" "SEQ" "DNA" "" ""
"0000333149" "00331930" "1" "00000" "00006" "2021-02-14 10:12:05" "" "" "SEQ" "DNA" "" ""
"0000333150" "00331931" "1" "00000" "00006" "2021-02-14 10:12:05" "" "" "SEQ" "DNA" "" ""
"0000333151" "00331932" "1" "00000" "00006" "2021-02-14 10:12:05" "" "" "SEQ-NG" "DNA" "" ""
"0000333152" "00331933" "1" "00000" "00006" "2021-02-14 10:12:05" "" "" "SEQ-NG" "DNA" "" ""
"0000333153" "00331934" "1" "00000" "00006" "2021-02-14 10:12:05" "" "" "SEQ" "DNA" "" ""
"0000333154" "00331935" "1" "00000" "00006" "2021-02-14 10:12:05" "" "" "SEQ-NG" "DNA" "" ""
"0000333155" "00331936" "1" "00000" "00006" "2021-02-14 10:12:05" "" "" "SEQ" "DNA" "" ""
"0000333156" "00331937" "1" "00000" "00006" "2021-02-14 10:12:05" "" "" "SEQ" "DNA" "" ""
"0000333157" "00331938" "1" "00000" "00006" "2021-02-14 10:12:05" "" "" "SEQ" "DNA" "" ""
"0000333158" "00331939" "1" "00000" "00006" "2021-02-14 10:12:05" "" "" "SEQ" "DNA" "" ""
"0000333159" "00331940" "1" "00000" "00006" "2021-02-14 10:12:05" "" "" "SEQ" "DNA" "" ""
"0000333160" "00331941" "1" "00000" "00006" "2021-02-14 10:12:05" "" "" "SEQ" "DNA" "" ""
"0000333161" "00331942" "1" "00000" "00006" "2021-02-14 10:12:05" "" "" "SEQ" "DNA" "" ""
"0000333162" "00331943" "1" "00000" "00006" "2021-02-14 10:12:05" "" "" "SEQ-NG" "DNA" "" ""
"0000333163" "00331944" "1" "00000" "00006" "2021-02-14 10:12:05" "" "" "SEQ" "DNA" "" ""
"0000333164" "00331945" "1" "00000" "00006" "2021-02-14 10:12:05" "" "" "SEQ" "DNA" "" ""
"0000333165" "00331946" "1" "00000" "00006" "2021-02-14 10:12:05" "" "" "SEQ" "DNA" "" ""
"0000333166" "00331947" "1" "00000" "00006" "2021-02-14 10:12:05" "" "" "SEQ" "DNA" "" ""
"0000333167" "00331948" "1" "00000" "00006" "2021-02-14 10:12:05" "" "" "SEQ" "DNA" "" ""
"0000333168" "00331949" "1" "00000" "00006" "2021-02-14 10:12:05" "" "" "SEQ" "DNA" "" ""
"0000333169" "00331950" "1" "00000" "00006" "2021-02-14 10:12:05" "" "" "SEQ" "DNA" "" ""
"0000333170" "00331951" "1" "00000" "00006" "2021-02-14 10:12:05" "" "" "SEQ" "DNA" "" ""
"0000333171" "00331952" "1" "00000" "00006" "2021-02-14 10:12:05" "" "" "SEQ" "DNA" "" ""
"0000333172" "00331953" "1" "00000" "00006" "2021-02-14 10:12:05" "" "" "SEQ" "DNA" "" ""
"0000333173" "00331954" "1" "00000" "00006" "2021-02-14 10:12:05" "" "" "SEQ-NG" "DNA" "" ""
"0000333174" "00331955" "1" "00000" "00006" "2021-02-14 10:12:05" "" "" "SEQ-NG" "DNA" "" ""
"0000333175" "00331956" "1" "00000" "00006" "2021-02-14 10:12:05" "" "" "SEQ" "DNA" "" ""
"0000333401" "00332181" "1" "00000" "00006" "2021-02-15 18:54:26" "" "" "SEQ-NG" "DNA" "" "WES"
"0000333402" "00332182" "1" "00000" "00006" "2021-02-15 18:54:26" "" "" "SEQ-NG" "DNA" "" "WES"
"0000333403" "00332183" "1" "00000" "00006" "2021-02-15 18:54:26" "" "" "SEQ-NG" "DNA" "" "WES"
"0000333404" "00332184" "1" "00000" "00006" "2021-02-15 18:54:26" "" "" "SEQ-NG" "DNA" "" "WES"
"0000333405" "00332185" "1" "00000" "00006" "2021-02-15 18:54:26" "" "" "SEQ-NG" "DNA" "" "WES"
"0000333422" "00332202" "1" "00000" "00006" "2021-02-15 18:54:26" "" "" "SEQ-NG" "DNA" "" "WES"
"0000333430" "00332210" "1" "00000" "00006" "2021-02-15 18:54:26" "" "" "SEQ-NG" "DNA" "" "WES"
"0000333439" "00332219" "1" "00000" "00006" "2021-02-15 18:54:26" "" "" "SEQ-NG" "DNA" "" "WES"
"0000333443" "00332223" "1" "00000" "00006" "2021-02-15 18:54:26" "" "" "SEQ-NG" "DNA" "" "WES"
"0000333446" "00332226" "1" "00000" "00006" "2021-02-15 18:54:26" "" "" "SEQ-NG" "DNA" "" "WES"
"0000333479" "00332259" "1" "00006" "00006" "2021-02-16 10:21:28" "" "" "SEQ-NG" "DNA" "" ""
"0000333497" "00332277" "1" "00000" "00006" "2021-02-16 17:14:33" "" "" "SEQ-NG" "DNA" "" "300-gene panel"
"0000333499" "00332279" "1" "00000" "00006" "2021-02-16 17:14:33" "" "" "SEQ-NG" "DNA" "" "300-gene panel"
"0000333503" "00332283" "1" "00000" "00006" "2021-02-16 17:14:33" "" "" "SEQ-NG" "DNA" "" "300-gene panel"
"0000333504" "00332284" "1" "00000" "00006" "2021-02-16 17:14:33" "" "" "SEQ-NG" "DNA" "" "300-gene panel"
"0000333505" "00332285" "1" "00000" "00006" "2021-02-16 17:14:33" "" "" "SEQ-NG" "DNA" "" "300-gene panel"
"0000333718" "00332494" "1" "00000" "00006" "2021-02-19 16:33:37" "" "" "SEQ-NG" "DNA" "" ""
"0000333719" "00332495" "1" "00000" "00006" "2021-02-19 16:33:37" "" "" "SEQ-NG" "DNA" "" ""
"0000333726" "00332502" "1" "00000" "00006" "2021-02-19 16:33:37" "" "" "SEQ-NG" "DNA" "" ""
"0000333735" "00332511" "1" "00000" "00006" "2021-02-19 16:33:37" "" "" "SEQ-NG" "DNA" "" ""
"0000333736" "00332512" "1" "00000" "00006" "2021-02-19 16:33:37" "" "" "SEQ-NG" "DNA" "" ""
"0000334209" "00332984" "1" "03971" "03971" "2021-02-24 13:50:16" "" "" "SEQ-NG-IT" "DNA" "" "gene panel (ABCA4, CNGB3, ELOVL4, PROM1)"
"0000334545" "00333320" "1" "03971" "03971" "2021-02-24 15:30:53" "" "" "SEQ-NG-IT" "DNA" "blood" "gene panel (ABCA4, CNGB3, ELOVL4, PROM1)"
"0000334546" "00333321" "1" "03971" "03971" "2021-02-24 16:11:08" "" "" "SEQ-NG-IT" "DNA" "blood" "gene panel (ABCA4, CNGB3, ELOVL4, PROM1)"
"0000334547" "00333322" "1" "00000" "00006" "2021-02-24 17:21:42" "" "" "SEQ" "DNA" "peripheral blood lymphocytes" ""
"0000334548" "00333323" "1" "00000" "00006" "2021-02-24 17:21:42" "" "" "SEQ" "DNA" "peripheral blood lymphocytes" ""
"0000334549" "00333324" "1" "00000" "00006" "2021-02-24 17:21:42" "" "" "SEQ" "DNA" "peripheral blood lymphocytes" ""
"0000334550" "00333325" "1" "00000" "00006" "2021-02-24 17:21:42" "" "" "SEQ" "DNA" "peripheral blood lymphocytes" ""
"0000334551" "00333326" "1" "00000" "00006" "2021-02-24 17:21:42" "" "" "SEQ" "DNA" "peripheral blood lymphocytes" ""
"0000334552" "00333327" "1" "00000" "00006" "2021-02-24 17:21:42" "" "" "SEQ" "DNA" "peripheral blood lymphocytes" ""
"0000334553" "00333328" "1" "00000" "00006" "2021-02-24 17:21:42" "" "" "SEQ" "DNA" "peripheral blood lymphocytes" ""
"0000334554" "00333329" "1" "00000" "00006" "2021-02-24 17:21:42" "" "" "SEQ" "DNA" "peripheral blood lymphocytes" ""
"0000334555" "00333330" "1" "00000" "00006" "2021-02-24 17:21:42" "" "" "SEQ" "DNA" "peripheral blood lymphocytes" ""
"0000334556" "00333331" "1" "00000" "00006" "2021-02-24 17:21:42" "" "" "SEQ" "DNA" "peripheral blood lymphocytes" ""
"0000334557" "00333332" "1" "00000" "00006" "2021-02-24 17:21:42" "" "" "SEQ" "DNA" "peripheral blood lymphocytes" ""
"0000334558" "00333333" "1" "00000" "00006" "2021-02-24 17:21:42" "" "" "SEQ" "DNA" "peripheral blood lymphocytes" ""
"0000334563" "00333338" "1" "00000" "00006" "2021-02-24 17:21:42" "" "" "SEQ" "DNA" "peripheral blood lymphocytes" ""
"0000334564" "00333339" "1" "00000" "00006" "2021-02-24 17:21:42" "" "" "SEQ" "DNA" "peripheral blood lymphocytes" ""
"0000334565" "00333340" "1" "00000" "00006" "2021-02-24 17:21:42" "" "" "SEQ" "DNA" "peripheral blood lymphocytes" ""
"0000334566" "00333341" "1" "00000" "00006" "2021-02-24 17:21:42" "" "" "SEQ" "DNA" "peripheral blood lymphocytes" ""
"0000334567" "00333342" "1" "00000" "00006" "2021-02-24 17:21:42" "" "" "SEQ" "DNA" "peripheral blood lymphocytes" ""
"0000334568" "00333343" "1" "00000" "00006" "2021-02-24 17:21:42" "" "" "SEQ" "DNA" "peripheral blood lymphocytes" ""
"0000334569" "00333344" "1" "00000" "00006" "2021-02-24 17:21:42" "" "" "SEQ" "DNA" "peripheral blood lymphocytes" ""
"0000334574" "00333349" "1" "00000" "00006" "2021-02-24 19:32:43" "" "" "SEQ-NG" "DNA" "" "233-gene panel"
"0000334578" "00333353" "1" "00000" "00006" "2021-02-25 10:13:46" "" "" "SEQ-NG" "DNA" "" "132-gene panel"
"0000334579" "00333354" "1" "00000" "00006" "2021-02-25 10:13:46" "" "" "SEQ-NG" "DNA" "" "132-gene panel"
"0000334620" "00333395" "1" "00000" "00006" "2021-02-25 11:52:36" "" "" "SEQ;SEQ-NG" "DNA" "" "184-gene panel"
"0000334632" "00333407" "1" "00000" "00006" "2021-02-25 11:52:36" "" "" "SEQ;SEQ-NG" "DNA" "" "184-gene panel"
"0000334651" "00333426" "1" "00000" "00006" "2021-02-25 11:52:36" "" "" "SEQ;SEQ-NG" "DNA" "" "184-gene panel"
"0000334652" "00333427" "1" "00000" "00006" "2021-02-25 11:52:36" "" "" "SEQ;SEQ-NG" "DNA" "" "184-gene panel"
"0000334655" "00333430" "1" "00000" "00006" "2021-02-25 11:52:36" "" "" "SEQ;SEQ-NG" "DNA" "" "184-gene panel"
"0000334692" "00333467" "1" "00000" "00006" "2021-02-25 16:04:58" "" "" "SEQ" "DNA" "" ""
"0000334693" "00333468" "1" "00000" "00006" "2021-02-25 16:04:58" "" "" "SEQ" "DNA" "" ""
"0000334699" "00333474" "1" "00000" "00006" "2021-02-25 16:04:58" "" "" "SEQ" "DNA" "" ""
"0000334715" "00333490" "1" "03971" "03971" "2021-02-25 20:06:58" "" "" "SEQ-NG-IT" "DNA" "blood" "gene panel (ABCA4, CNGB3, ELOVL4, PROM1)"
"0000334716" "00333491" "1" "03971" "03971" "2021-02-25 20:25:01" "" "" "SEQ-NG-IT" "DNA" "blood" "gene panel (ABCA4, CNGB3, ELOVL4, PROM1)"
"0000334718" "00333492" "1" "03971" "03971" "2021-02-25 20:48:41" "" "" "SEQ-NG-IT" "DNA" "blood" ""
"0000334720" "00333494" "1" "03971" "03971" "2021-02-25 21:19:23" "" "" "SEQ-NG-IT" "DNA" "blood" "gene panel (ABCA4, CNGB3, ELOVL4, PROM1)"
"0000334722" "00333496" "1" "03971" "03971" "2021-02-26 09:18:33" "" "" "SEQ-NG-IT" "DNA" "blood" "gene panel (ABCA4, CNGB3, ELOVL4, PROM1)"
"0000334723" "00333497" "1" "03971" "03971" "2021-02-26 09:31:08" "" "" "SEQ-NG-IT" "DNA" "blood" "gene panel (ABCA4, CNGB3, ELOVL4, PROM1)"
"0000334724" "00333498" "1" "03971" "03971" "2021-02-26 09:46:39" "" "" "SEQ-NG-IT" "DNA" "blood" "gene panel (ABCA4, CNGB3, ELOVL4, PROM1)"
"0000334725" "00333499" "1" "03971" "03971" "2021-02-26 09:57:24" "" "" "SEQ-NG-IT" "DNA" "blood" "gene panel (ABCA4, CNGB3, ELOVL4, PROM1)"
"0000334726" "00333500" "1" "03971" "03971" "2021-02-26 10:05:47" "" "" "SEQ-NG-IT" "DNA" "blood" "gene panel (ABCA4, CNGB3, ELOVL4, PROM1)"
"0000334727" "00333501" "1" "03971" "03971" "2021-02-26 10:14:40" "" "" "SEQ-NG-IT" "DNA" "blood" "gene panel (ABCA4, CNGB3, ELOVL4, PROM1)"
"0000334728" "00333502" "1" "03971" "03971" "2021-02-26 10:21:59" "" "" "SEQ-NG-IT" "DNA" "blood" "gene panel (ABCA4, CNGB3, ELOVL4, PROM1)"
"0000334883" "00333657" "1" "00000" "00006" "2021-02-26 12:01:19" "" "" "SEQ-NG" "DNA" "" ""
"0000334884" "00333658" "1" "00000" "00006" "2021-02-26 12:01:19" "" "" "SEQ-NG" "DNA" "" ""
"0000334885" "00333659" "1" "00000" "00006" "2021-02-26 12:01:19" "" "" "SEQ-NG" "DNA" "" ""
"0000334886" "00333660" "1" "00000" "00006" "2021-02-26 12:01:19" "" "" "SEQ-NG" "DNA" "" ""
"0000334887" "00333661" "1" "00000" "00006" "2021-02-26 12:01:19" "" "" "SEQ-NG" "DNA" "" ""
"0000334888" "00333662" "1" "00000" "00006" "2021-02-26 12:01:19" "" "" "SEQ-NG" "DNA" "" ""
"0000334889" "00333663" "1" "00000" "00006" "2021-02-26 12:01:19" "" "" "SEQ-NG" "DNA" "" ""
"0000334890" "00333664" "1" "00000" "00006" "2021-02-26 12:01:19" "" "" "SEQ-NG" "DNA" "" ""
"0000334891" "00333665" "1" "00000" "00006" "2021-02-26 12:01:19" "" "" "SEQ-NG" "DNA" "" ""
"0000334892" "00333666" "1" "00000" "00006" "2021-02-26 12:01:19" "" "" "SEQ-NG" "DNA" "" ""
"0000334893" "00333667" "1" "00000" "00006" "2021-02-26 12:01:19" "" "" "SEQ-NG" "DNA" "" ""
"0000334894" "00333668" "1" "00000" "00006" "2021-02-26 12:01:19" "" "" "SEQ-NG" "DNA" "" ""
"0000334895" "00333669" "1" "00000" "00006" "2021-02-26 12:01:19" "" "" "SEQ-NG" "DNA" "" ""
"0000334896" "00333670" "1" "00000" "00006" "2021-02-26 12:01:19" "" "" "SEQ-NG" "DNA" "" ""
"0000334897" "00333671" "1" "00000" "00006" "2021-02-26 12:01:19" "" "" "SEQ-NG" "DNA" "" ""
"0000334898" "00333672" "1" "00000" "00006" "2021-02-26 12:01:19" "" "" "SEQ-NG" "DNA" "" ""
"0000334899" "00333673" "1" "00000" "00006" "2021-02-26 12:01:19" "" "" "SEQ-NG" "DNA" "" ""
"0000334900" "00333674" "1" "00000" "00006" "2021-02-26 12:01:19" "" "" "SEQ-NG" "DNA" "" ""
"0000334901" "00333675" "1" "00000" "00006" "2021-02-26 12:01:19" "" "" "SEQ-NG" "DNA" "" ""
"0000334902" "00333676" "1" "00000" "00006" "2021-02-26 12:01:19" "" "" "SEQ-NG" "DNA" "" ""
"0000334928" "00333702" "1" "00000" "00006" "2021-02-26 12:01:19" "" "" "SEQ-NG" "DNA" "" ""
"0000334929" "00333703" "1" "00000" "00006" "2021-02-26 12:01:19" "" "" "SEQ-NG" "DNA" "" ""
"0000334930" "00333704" "1" "00000" "00006" "2021-02-26 12:01:19" "" "" "SEQ-NG" "DNA" "" ""
"0000335340" "00334114" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" ""
"0000335341" "00334115" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" ""
"0000335342" "00334116" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" ""
"0000335343" "00334117" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" ""
"0000335344" "00334118" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" ""
"0000335345" "00334119" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" ""
"0000335346" "00334120" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" ""
"0000335347" "00334121" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" ""
"0000335348" "00334122" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" ""
"0000335349" "00334123" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" ""
"0000335350" "00334124" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" ""
"0000335351" "00334125" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" ""
"0000335352" "00334126" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" ""
"0000335353" "00334127" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" ""
"0000335354" "00334128" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" ""
"0000335355" "00334129" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" ""
"0000335356" "00334130" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" ""
"0000335357" "00334131" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" ""
"0000335358" "00334132" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" ""
"0000335359" "00334133" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" ""
"0000335360" "00334134" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" ""
"0000335361" "00334135" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" ""
"0000335362" "00334136" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" ""
"0000335363" "00334137" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" ""
"0000335364" "00334138" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" ""
"0000335365" "00334139" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" ""
"0000335366" "00334140" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" ""
"0000335367" "00334141" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" ""
"0000335368" "00334142" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" ""
"0000335369" "00334143" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" ""
"0000335370" "00334144" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" ""
"0000335371" "00334145" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" ""
"0000335372" "00334146" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" ""
"0000335373" "00334147" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" ""
"0000335374" "00334148" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" ""
"0000335375" "00334149" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" ""
"0000335376" "00334150" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" ""
"0000335377" "00334151" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" ""
"0000335378" "00334152" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" ""
"0000335379" "00334153" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" ""
"0000335380" "00334154" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" ""
"0000335381" "00334155" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" ""
"0000335382" "00334156" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" ""
"0000335383" "00334157" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" ""
"0000335384" "00334158" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" ""
"0000335385" "00334159" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" ""
"0000335386" "00334160" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" ""
"0000335387" "00334161" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" ""
"0000335388" "00334162" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" ""
"0000335389" "00334163" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" ""
"0000335390" "00334164" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" ""
"0000335391" "00334165" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" ""
"0000335392" "00334166" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" ""
"0000335393" "00334167" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" ""
"0000335394" "00334168" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" ""
"0000335395" "00334169" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" ""
"0000335396" "00334170" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" ""
"0000335397" "00334171" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" ""
"0000335398" "00334172" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" ""
"0000335399" "00334173" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" ""
"0000335400" "00334174" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" ""
"0000335401" "00334175" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" ""
"0000335402" "00334176" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" ""
"0000335403" "00334177" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" ""
"0000335404" "00334178" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" ""
"0000335405" "00334179" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" ""
"0000335406" "00334180" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" ""
"0000335407" "00334181" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" ""
"0000335408" "00334182" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" ""
"0000335409" "00334183" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" ""
"0000335410" "00334184" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" ""
"0000335411" "00334185" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" ""
"0000335412" "00334186" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" ""
"0000335413" "00334187" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" ""
"0000335414" "00334188" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" ""
"0000335415" "00334189" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" ""
"0000335416" "00334190" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" ""
"0000335417" "00334191" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" ""
"0000335418" "00334192" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" ""
"0000335419" "00334193" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" ""
"0000335420" "00334194" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" ""
"0000335421" "00334195" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" ""
"0000335422" "00334196" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" ""
"0000335423" "00334197" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" ""
"0000335424" "00334198" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" ""
"0000335425" "00334199" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" ""
"0000335426" "00334200" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" ""
"0000335427" "00334201" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" ""
"0000335428" "00334202" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" ""
"0000335429" "00334203" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" ""
"0000335430" "00334204" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" ""
"0000335431" "00334205" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" ""
"0000335432" "00334206" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" ""
"0000335433" "00334207" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" ""
"0000335434" "00334208" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" ""
"0000335435" "00334209" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" ""
"0000335436" "00334210" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" ""
"0000335437" "00334211" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" ""
"0000335438" "00334212" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" ""
"0000335439" "00334213" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" ""
"0000335440" "00334214" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" ""
"0000335441" "00334215" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" ""
"0000335442" "00334216" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" ""
"0000335443" "00334217" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" ""
"0000335444" "00334218" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" ""
"0000335445" "00334219" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" ""
"0000335446" "00334220" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" ""
"0000335447" "00334221" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" ""
"0000335448" "00334222" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" ""
"0000335449" "00334223" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" ""
"0000335450" "00334224" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" ""
"0000335451" "00334225" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" ""
"0000335452" "00334226" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" ""
"0000335453" "00334227" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" ""
"0000335454" "00334228" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" ""
"0000335455" "00334229" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" ""
"0000335456" "00334230" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" ""
"0000335457" "00334231" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" ""
"0000335458" "00334232" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" ""
"0000335459" "00334233" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" ""
"0000335460" "00334234" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" ""
"0000335461" "00334235" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" ""
"0000335462" "00334236" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" ""
"0000335463" "00334237" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" ""
"0000335464" "00334238" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" ""
"0000335465" "00334239" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" ""
"0000335466" "00334240" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" ""
"0000335467" "00334241" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" ""
"0000335468" "00334242" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" ""
"0000335469" "00334243" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" ""
"0000335470" "00334244" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" ""
"0000335471" "00334245" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" ""
"0000335472" "00334246" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" ""
"0000335473" "00334247" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" ""
"0000335474" "00334248" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" ""
"0000335475" "00334249" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" ""
"0000335476" "00334250" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" ""
"0000335477" "00334251" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" ""
"0000335478" "00334252" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" ""
"0000335479" "00334253" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" ""
"0000335480" "00334254" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" ""
"0000335481" "00334255" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" ""
"0000335482" "00334256" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" ""
"0000335483" "00334257" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" ""
"0000335484" "00334258" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" ""
"0000335485" "00334259" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" ""
"0000335495" "00334269" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" ""
"0000335496" "00334270" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" ""
"0000335497" "00334271" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" ""
"0000335498" "00334272" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" ""
"0000335556" "00334328" "1" "03971" "03971" "2021-02-27 18:43:11" "" "" "SEQ-NG-IT" "DNA" "blood" "gene panel (ABCA4, CNGB3, ELOVL4, PROM1)"
"0000335557" "00334329" "1" "03971" "03971" "2021-02-27 18:52:43" "" "" "SEQ-NG-IT" "DNA" "blood" "gene panel (ABCA4, CNGB3, ELOVL4, PROM1)"
"0000335558" "00334330" "1" "03971" "03971" "2021-02-27 19:06:53" "" "" "SEQ-NG-IT" "DNA" "blood" "gene panel (ABCA4, CNGB3, ELOVL4, PROM1)"
"0000335559" "00334331" "1" "03971" "03971" "2021-02-27 19:17:14" "" "" "SEQ-NG-IT" "DNA" "blood" "gene panel (ABCA4, CNGB3, ELOVL4, PROM1)"
"0000335560" "00334332" "1" "03971" "03971" "2021-02-27 19:29:51" "" "" "SEQ-NG-IT" "DNA" "blood" "gene panel (ABCA4, CNGB3, ELOVL4, PROM1)"
"0000335561" "00334333" "1" "03971" "03971" "2021-02-27 19:44:00" "" "" "SEQ-NG-IT" "DNA" "blood" "gene panel (ABCA4, CNGB3, ELOVL4, PROM1)"
"0000335562" "00334334" "1" "03971" "03971" "2021-02-27 19:55:31" "" "" "SEQ-NG-IT" "DNA" "blood" "gene panel (ABCA4, CNGB3, ELOVL4, PROM1)"
"0000335563" "00334335" "1" "03971" "03971" "2021-02-27 20:10:02" "" "" "SEQ-NG-IT" "DNA" "blood" "gene panel (ABCA4, CNGB3, ELOVL4, PROM1)"
"0000335564" "00334336" "1" "03971" "03971" "2021-02-27 20:18:33" "" "" "SEQ-NG-IT" "DNA" "blood" "gene panel (ABCA4, CNGB3, ELOVL4, PROM1)"
"0000335565" "00334337" "1" "03971" "03971" "2021-02-27 20:42:23" "" "" "SEQ-NG-IT" "DNA" "blood" "gene panel (ABCA4, CNGB3, ELOVL4, PROM1)"
"0000335566" "00334338" "1" "03971" "03971" "2021-02-27 21:00:18" "" "" "SEQ-NG-IT" "DNA" "blood" "gene panel (ABCA4, CNGB3, ELOVL4, PROM1)"
"0000335567" "00334339" "1" "03971" "03971" "2021-02-27 21:06:37" "" "" "SEQ-NG-IT" "DNA" "blood" "gene panel (ABCA4, CNGB3, ELOVL4, PROM1)"
"0000335568" "00334340" "1" "03971" "03971" "2021-02-27 21:13:37" "" "" "SEQ-NG-IT" "DNA" "blood" "gene panel (ABCA4, CNGB3, ELOVL4, PROM1)"
"0000335569" "00334341" "1" "03971" "03971" "2021-02-27 21:20:51" "" "" "SEQ-NG-IT" "DNA" "blood" "gene panel (ABCA4, CNGB3, ELOVL4, PROM1)"
"0000335570" "00334342" "1" "03971" "03971" "2021-02-27 21:35:21" "" "" "SEQ" "DNA" "saliva" ""
"0000335600" "00334372" "1" "03971" "03971" "2021-02-28 09:47:22" "" "" "SEQ-NG-IT" "DNA" "blood" "gene panel (ABCA4, CNGB3, ELOVL4, PROM1)"
"0000335605" "00334377" "1" "03971" "03971" "2021-02-28 10:58:16" "" "" "SEQ-NG-IT" "DNA" "blood" "gene panel (ABCA4, CNGB3, ELOVL4, PROM1)"
"0000335607" "00334379" "1" "03971" "03971" "2021-02-28 11:04:28" "" "" "SEQ-NG-IT" "DNA" "blood" "gene panel (ABCA4, CNGB3, ELOVL4, PROM1)"
"0000335610" "00334382" "1" "03971" "03971" "2021-02-28 11:16:04" "" "" "SEQ-NG-IT" "DNA" "blood" "gene panel (ABCA4, CNGB3, ELOVL4, PROM1)"
"0000335611" "00334383" "1" "03971" "03971" "2021-02-28 11:21:47" "" "" "SEQ-NG-IT" "DNA" "blood" "gene panel (ABCA4, CNGB3, ELOVL4, PROM1)"
"0000335614" "00334385" "1" "03971" "03971" "2021-02-28 11:28:56" "" "" "SEQ-NG-IT" "DNA" "blood" "gene panel (ABCA4, CNGB3, ELOVL4, PROM1)"
"0000335615" "00334386" "1" "03971" "03971" "2021-02-28 11:35:56" "" "" "SEQ-NG-IT" "DNA" "blood" "gene panel (ABCA4, CNGB3, ELOVL4, PROM1)"
"0000335617" "00334388" "1" "03971" "03971" "2021-02-28 11:41:26" "" "" "SEQ-NG-IT" "DNA" "blood" "gene panel (ABCA4, CNGB3, ELOVL4, PROM1)"
"0000335618" "00334389" "1" "03971" "03971" "2021-02-28 11:48:12" "" "" "SEQ-NG-IT" "DNA" "blood" "gene panel (ABCA4, CNGB3, ELOVL4, PROM1)"
"0000335620" "00334391" "1" "03971" "03971" "2021-02-28 11:53:05" "" "" "SEQ-NG-IT" "DNA" "blood" "gene panel (ABCA4, CNGB3, ELOVL4, PROM1)"
"0000335621" "00334392" "1" "03971" "03971" "2021-02-28 11:59:31" "" "" "SEQ-NG-IT" "DNA" "blood" "gene panel (ABCA4, CNGB3, ELOVL4, PROM1)"
"0000335636" "00334407" "1" "00000" "00006" "2021-02-28 16:11:14" "" "" "SEQ-NG" "DNA" "" "WES"
"0000335637" "00334408" "1" "00000" "00006" "2021-02-28 16:11:14" "" "" "SEQ-NG" "DNA" "" "WES"
"0000335638" "00334409" "1" "00000" "00006" "2021-02-28 16:11:14" "" "" "SEQ-NG" "DNA" "" "WES"
"0000335692" "00334463" "1" "00000" "00006" "2021-02-28 17:46:08" "" "" "SEQ-NG" "DNA" "" "WES"
"0000335730" "00334501" "1" "03971" "03971" "2021-03-01 09:17:05" "" "" "SEQ-NG-IT" "DNA" "blood" "gene panel (ABCA4, CNGB3, ELOVL4, PROM1)"
"0000335731" "00334502" "1" "03971" "03971" "2021-03-01 09:23:02" "" "" "SEQ-NG-IT" "DNA" "blood" "gene panel (ABCA4, CNGB3, ELOVL4, PROM1)"
"0000335732" "00334503" "1" "03971" "03971" "2021-03-01 09:28:11" "" "" "SEQ-NG-IT" "DNA" "blood" "gene panel (ABCA4, CNGB3, ELOVL4, PROM1)"
"0000335733" "00334504" "1" "03971" "03971" "2021-03-01 09:33:36" "" "" "SEQ-NG-IT" "DNA" "blood" "gene panel (ABCA4, CNGB3, ELOVL4, PROM1)"
"0000335739" "00334505" "1" "03971" "03971" "2021-03-01 09:45:21" "" "" "SEQ-NG-IT" "DNA" "blood" "gene panel (ABCA4, CNGB3, ELOVL4, PROM1)"
"0000335741" "00334512" "1" "03971" "03971" "2021-03-01 09:54:53" "" "" "SEQ-NG-IT" "DNA" "blood" "gene panel (ABCA4, CNGB3, ELOVL4, PROM1)"
"0000335743" "00334514" "1" "03971" "03971" "2021-03-01 10:00:31" "" "" "SEQ-NG-IT" "DNA" "blood" "gene panel (ABCA4, CNGB3, ELOVL4, PROM1)"
"0000335744" "00334515" "1" "03971" "03971" "2021-03-01 10:05:43" "" "" "SEQ-NG-IT" "DNA" "blood" "gene panel (ABCA4, CNGB3, ELOVL4, PROM1)"
"0000335745" "00334516" "1" "03971" "03971" "2021-03-01 10:10:10" "" "" "SEQ-NG-IT" "DNA" "blood" "gene panel (ABCA4, CNGB3, ELOVL4, PROM1)"
"0000335746" "00334517" "1" "03971" "03971" "2021-03-01 10:15:24" "" "" "SEQ-NG-IT" "DNA" "blood" "gene panel (ABCA4, CNGB3, ELOVL4, PROM1)"
"0000335747" "00334518" "1" "03971" "03971" "2021-03-01 10:20:10" "" "" "SEQ-NG-IT" "DNA" "blood" "gene panel (ABCA4, CNGB3, ELOVL4, PROM1)"
"0000335748" "00334519" "1" "03971" "03971" "2021-03-01 10:33:00" "" "" "SEQ-NG-IT" "DNA" "blood" "gene panel (ABCA4, CNGB3, ELOVL4, PROM1)"
"0000335760" "00334531" "1" "03971" "03971" "2021-03-01 12:03:42" "" "" "SEQ-NG-IT" "DNA" "blood" "gene panel (ABCA4, CNGB3, ELOVL4, PROM1)"
"0000335761" "00334532" "1" "03971" "03971" "2021-03-01 12:14:36" "" "" "SEQ-NG-IT" "DNA" "blood" "gene panel (ABCA4, CNGB3, ELOVL4, PROM1)"
"0000335763" "00334534" "1" "03971" "03971" "2021-03-01 12:47:43" "" "" "SEQ-NG-IT" "DNA" "blood" "gene panel (ABCA4, CNGB3, ELOVL4, PROM1)"
"0000335801" "00334572" "1" "00000" "00006" "2021-03-01 15:50:09" "" "" "SEQ-NG" "DNA" "" "105-gene panel"
"0000336110" "00334881" "1" "03971" "03971" "2021-03-02 10:36:46" "" "" "SEQ-NG-IT" "DNA" "blood" "gene panel (ABCA4, CNGB3, ELOVL4, PROM1)"
"0000336111" "00334882" "1" "03971" "03971" "2021-03-02 10:51:16" "" "" "SEQ-NG-IT" "DNA" "blood" "gene panel (ABCA4, CNGB3, ELOVL4, PROM1)"
"0000336174" "00334945" "1" "03971" "03971" "2021-03-02 14:22:37" "" "" "SEQ-NG-IT" "DNA" "blood" "gene panel (ABCA4, CNGB3, ELOVL4, PROM1)"
"0000336177" "00334947" "1" "03971" "03971" "2021-03-02 14:38:36" "" "" "SEQ-NG-IT" "DNA" "blood" "gene panel (ABCA4, CNGB3, ELOVL4, PROM1)"
"0000336179" "00334949" "1" "03971" "03971" "2021-03-02 14:48:38" "" "" "SEQ-NG-IT" "DNA" "blood" "gene panel (ABCA4, CNGB3, ELOVL4, PROM1)"
"0000336182" "00334951" "1" "03971" "03971" "2021-03-02 14:56:17" "" "" "SEQ-NG-IT" "DNA" "blood" "gene panel (ABCA4, CNGB3, ELOVL4, PROM1)"
"0000336184" "00334953" "1" "03971" "03971" "2021-03-02 15:01:18" "" "" "SEQ-NG-IT" "DNA" "blood" "gene panel (ABCA4, CNGB3, ELOVL4, PROM1)"
"0000336186" "00334956" "1" "03971" "03971" "2021-03-02 15:10:18" "" "" "SEQ-NG-IT" "DNA" "blood" "gene panel (ABCA4, CNGB3, ELOVL4, PROM1)"
"0000336189" "00334958" "1" "03971" "03971" "2021-03-02 15:45:18" "" "" "SEQ-NG-IT" "DNA" "blood" "gene panel (ABCA4, CNGB3, ELOVL4, PROM1)"
"0000336190" "00334959" "1" "03971" "03971" "2021-03-02 15:51:21" "" "" "SEQ-NG-IT" "DNA" "blood" "gene panel (ABCA4, CNGB3, ELOVL4, PROM1)"
"0000336191" "00334960" "1" "03971" "03971" "2021-03-02 15:56:49" "" "" "SEQ-NG-IT" "DNA" "blood" "gene panel (ABCA4, CNGB3, ELOVL4, PROM1)"
"0000336192" "00334961" "1" "03971" "03971" "2021-03-02 16:02:22" "" "" "SEQ-NG-IT" "DNA" "blood" "gene panel (ABCA4, CNGB3, ELOVL4, PROM1)"
"0000336206" "00334975" "1" "03971" "03971" "2021-03-02 17:57:49" "" "" "SEQ-NG-IT" "DNA" "blood" "gene panel (ABCA4, CNGB3, ELOVL4, PROM1)"
"0000336208" "00334977" "1" "03971" "03971" "2021-03-02 18:16:17" "" "" "SEQ-NG-IT" "DNA" "blood" "gene panel (ABCA4, CNGB3, ELOVL4, PROM1)"
"0000336210" "00334979" "1" "03971" "03971" "2021-03-02 18:26:38" "" "" "SEQ-NG-IT" "DNA" "blood" "gene panel (ABCA4, CNGB3, ELOVL4, PROM1)"
"0000336216" "00334985" "1" "03971" "03971" "2021-03-02 18:41:53" "" "" "SEQ-NG-IT" "DNA" "blood" "gene panel (ABCA4, CNGB3, ELOVL4, PROM1)"
"0000336300" "00335071" "1" "00000" "00006" "2021-03-04 11:06:46" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000336301" "00335072" "1" "00000" "00006" "2021-03-04 11:06:46" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000336302" "00335073" "1" "00000" "00006" "2021-03-04 11:06:46" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000336303" "00335074" "1" "00000" "00006" "2021-03-04 11:06:46" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000336304" "00335075" "1" "00000" "00006" "2021-03-04 11:06:46" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000336305" "00335076" "1" "00000" "00006" "2021-03-04 11:06:46" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000336306" "00335077" "1" "00000" "00006" "2021-03-04 11:06:46" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000336307" "00335078" "1" "00000" "00006" "2021-03-04 11:06:46" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000336308" "00335079" "1" "00000" "00006" "2021-03-04 11:06:46" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000336471" "00335242" "1" "00000" "00006" "2021-03-04 14:06:09" "" "" "SEQ-NG" "DNA" "" "212-gene panel"
"0000336475" "00335246" "1" "00000" "00006" "2021-03-04 14:06:09" "" "" "SEQ-NG" "DNA" "" "212-gene panel"
"0000336476" "00335247" "1" "00000" "00006" "2021-03-04 14:06:09" "" "" "SEQ-NG" "DNA" "" "212-gene panel"
"0000336477" "00335248" "1" "00000" "00006" "2021-03-04 14:06:09" "" "" "SEQ-NG" "DNA" "" "212-gene panel"
"0000336479" "00335250" "1" "00000" "00006" "2021-03-04 14:06:09" "" "" "SEQ-NG" "DNA" "" "212-gene panel"
"0000336486" "00335257" "1" "02485" "00006" "2021-03-04 16:18:39" "" "" "SEQ-NG" "DNA" "" "68-gene panel"
"0000336487" "00335258" "1" "02485" "00006" "2021-03-04 16:18:39" "" "" "SEQ-NG" "DNA" "" "68-gene panel"
"0000336555" "00335326" "1" "02485" "00006" "2021-03-04 17:06:33" "" "" "SEQ-NG" "DNA" "" "68-gene panel"
"0000336556" "00335327" "1" "02485" "00006" "2021-03-04 17:06:33" "" "" "SEQ-NG" "DNA" "" "68-gene panel"
"0000336557" "00335328" "1" "02485" "00006" "2021-03-04 17:06:33" "" "" "SEQ-NG" "DNA" "" "68-gene panel"
"0000336558" "00335329" "1" "02485" "00006" "2021-03-04 17:06:33" "" "" "SEQ-NG" "DNA" "" "68-gene panel"
"0000336559" "00335330" "1" "02485" "00006" "2021-03-04 17:06:33" "" "" "SEQ-NG" "DNA" "" "68-gene panel"
"0000336631" "00335402" "1" "00000" "00006" "2021-03-05 16:19:42" "" "" "SEQ-NG" "DNA" "" "283-gene panel"
"0000336651" "00335422" "1" "00000" "00006" "2021-03-05 16:19:42" "" "" "SEQ-NG" "DNA" "" "283-gene panel"
"0000336655" "00335426" "1" "00000" "00006" "2021-03-05 16:19:42" "" "" "SEQ-NG" "DNA" "" "283-gene panel"
"0000336662" "00335433" "1" "00000" "00006" "2021-03-05 16:19:42" "" "" "SEQ-NG" "DNA" "" "283-gene panel"
"0000336665" "00335436" "1" "00000" "00006" "2021-03-05 16:19:42" "" "" "SEQ-NG" "DNA" "" "283-gene panel"
"0000336671" "00335442" "1" "00000" "00006" "2021-03-05 16:19:42" "" "" "SEQ-NG" "DNA" "" "283-gene panel"
"0000336677" "00335448" "1" "00006" "00006" "2021-03-05 16:58:28" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000336680" "00335451" "1" "00006" "00006" "2021-03-05 17:08:29" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000336682" "00335453" "1" "00000" "00006" "2021-03-05 19:30:17" "" "" "SEQ-NG" "DNA" "" "WES"
"0000336683" "00335454" "1" "00000" "00006" "2021-03-05 19:30:17" "" "" "SEQ-NG" "DNA" "" "WES"
"0000336691" "00335462" "1" "00000" "00006" "2021-03-05 19:30:17" "" "" "SEQ-NG" "DNA" "" "72-gene panel"
"0000336692" "00335463" "1" "00000" "00006" "2021-03-05 19:30:17" "" "" "SEQ-NG" "DNA" "" "72-gene panel"
"0000336693" "00335464" "1" "00000" "00006" "2021-03-05 19:30:17" "" "" "SEQ-NG" "DNA" "" "72-gene panel"
"0000336694" "00335465" "1" "00000" "00006" "2021-03-05 19:30:17" "" "" "SEQ-NG" "DNA" "" "72-gene panel"
"0000336695" "00335466" "1" "00000" "00006" "2021-03-05 19:30:17" "" "" "SEQ-NG" "DNA" "" "72-gene panel"
"0000336696" "00335467" "1" "00000" "00006" "2021-03-05 19:30:17" "" "" "SEQ-NG" "DNA" "" "72-gene panel"
"0000336697" "00335468" "1" "00000" "00006" "2021-03-05 19:30:17" "" "" "SEQ-NG" "DNA" "" "72-gene panel"
"0000336698" "00335469" "1" "00000" "00006" "2021-03-05 19:30:17" "" "" "SEQ-NG" "DNA" "" "72-gene panel"
"0000336699" "00335470" "1" "00000" "00006" "2021-03-05 19:30:17" "" "" "SEQ-NG" "DNA" "" "72-gene panel"
"0000336700" "00335471" "1" "00000" "00006" "2021-03-05 19:30:17" "" "" "SEQ-NG" "DNA" "" "72-gene panel"
"0000336701" "00335472" "1" "00000" "00006" "2021-03-05 19:30:17" "" "" "SEQ-NG" "DNA" "" "72-gene panel"
"0000336702" "00335473" "1" "00000" "00006" "2021-03-05 19:30:17" "" "" "SEQ-NG" "DNA" "" "72-gene panel"
"0000336973" "00335744" "1" "00000" "00006" "2021-03-08 20:49:15" "" "" "SEQ-NG" "DNA" "" "325-gene panel"
"0000336974" "00335745" "1" "00000" "00006" "2021-03-08 20:49:15" "" "" "SEQ-NG" "DNA" "" "325-gene panel"
"0000336975" "00335746" "1" "00000" "00006" "2021-03-08 20:49:15" "" "" "SEQ-NG" "DNA" "" "325-gene panel"
"0000336976" "00335747" "1" "00000" "00006" "2021-03-08 20:49:15" "" "" "SEQ-NG" "DNA" "" "325-gene panel"
"0000336977" "00335748" "1" "00000" "00006" "2021-03-08 20:49:15" "" "" "SEQ-NG" "DNA" "" "325-gene panel"
"0000336978" "00335749" "1" "00000" "00006" "2021-03-08 20:49:15" "" "" "SEQ-NG" "DNA" "" "325-gene panel"
"0000336980" "00335751" "1" "00000" "00006" "2021-03-08 20:49:15" "" "" "SEQ-NG" "DNA" "" "325-gene panel"
"0000336981" "00335752" "1" "00000" "00006" "2021-03-08 20:49:15" "" "" "SEQ-NG" "DNA" "" "325-gene panel"
"0000336982" "00335753" "1" "00000" "00006" "2021-03-08 20:49:15" "" "" "SEQ-NG" "DNA" "" "325-gene panel"
"0000336983" "00335754" "1" "00000" "00006" "2021-03-08 20:49:15" "" "" "SEQ-NG" "DNA" "" "325-gene panel"
"0000336984" "00335755" "1" "00000" "00006" "2021-03-08 20:49:15" "" "" "SEQ-NG" "DNA" "" "325-gene panel"
"0000336985" "00335756" "1" "00000" "00006" "2021-03-08 20:49:15" "" "" "SEQ-NG" "DNA" "" "325-gene panel"
"0000336986" "00335757" "1" "00000" "00006" "2021-03-08 20:49:15" "" "" "SEQ-NG" "DNA" "" "325-gene panel"
"0000336987" "00335758" "1" "00000" "00006" "2021-03-08 20:49:15" "" "" "SEQ-NG" "DNA" "" "325-gene panel"
"0000336988" "00335759" "1" "00000" "00006" "2021-03-08 20:49:15" "" "" "SEQ-NG" "DNA" "" "325-gene panel"
"0000336989" "00335760" "1" "00000" "00006" "2021-03-08 20:49:15" "" "" "SEQ-NG" "DNA" "" "325-gene panel"
"0000336990" "00335761" "1" "00000" "00006" "2021-03-08 20:49:15" "" "" "SEQ-NG" "DNA" "" "325-gene panel"
"0000336991" "00335762" "1" "00000" "00006" "2021-03-08 20:49:15" "" "" "SEQ-NG" "DNA" "" "325-gene panel"
"0000336992" "00335763" "1" "00000" "00006" "2021-03-08 20:49:15" "" "" "SEQ-NG" "DNA" "" "325-gene panel"
"0000336993" "00335764" "1" "00000" "00006" "2021-03-08 20:49:15" "" "" "SEQ-NG" "DNA" "" "325-gene panel"
"0000336994" "00335765" "1" "00000" "00006" "2021-03-08 20:49:15" "" "" "SEQ-NG" "DNA" "" "325-gene panel"
"0000336995" "00335766" "1" "00000" "00006" "2021-03-08 20:49:15" "" "" "SEQ-NG" "DNA" "" "325-gene panel"
"0000336996" "00335767" "1" "00000" "00006" "2021-03-08 20:49:15" "" "" "SEQ-NG" "DNA" "" "325-gene panel"
"0000336997" "00335768" "1" "00000" "00006" "2021-03-08 20:49:15" "" "" "SEQ-NG" "DNA" "" "325-gene panel"
"0000336998" "00335769" "1" "00000" "00006" "2021-03-08 20:49:15" "" "" "SEQ-NG" "DNA" "" "325-gene panel"
"0000336999" "00335770" "1" "00000" "00006" "2021-03-08 20:49:15" "" "" "SEQ-NG" "DNA" "" "325-gene panel"
"0000337000" "00335771" "1" "00000" "00006" "2021-03-08 20:49:15" "" "" "SEQ-NG" "DNA" "" "325-gene panel"
"0000337001" "00335772" "1" "00000" "00006" "2021-03-08 20:49:15" "" "" "SEQ-NG" "DNA" "" "325-gene panel"
"0000337002" "00335773" "1" "00000" "00006" "2021-03-08 20:49:15" "" "" "SEQ-NG" "DNA" "" "325-gene panel"
"0000337003" "00335774" "1" "00000" "00006" "2021-03-08 20:49:15" "" "" "SEQ-NG" "DNA" "" "325-gene panel"
"0000337004" "00335775" "1" "00000" "00006" "2021-03-08 20:49:15" "" "" "SEQ-NG" "DNA" "" "325-gene panel"
"0000337005" "00335776" "1" "00000" "00006" "2021-03-08 20:49:15" "" "" "SEQ-NG" "DNA" "" "325-gene panel"
"0000337006" "00335777" "1" "00000" "00006" "2021-03-08 20:49:15" "" "" "SEQ-NG" "DNA" "" "325-gene panel"
"0000337007" "00335778" "1" "00000" "00006" "2021-03-08 20:49:15" "" "" "SEQ-NG" "DNA" "" "325-gene panel"
"0000337008" "00335779" "1" "00000" "00006" "2021-03-08 20:49:15" "" "" "SEQ-NG" "DNA" "" "325-gene panel"
"0000337009" "00335780" "1" "00000" "00006" "2021-03-08 20:49:15" "" "" "SEQ-NG" "DNA" "" "325-gene panel"
"0000337038" "00335808" "1" "00000" "00006" "2021-03-09 09:58:04" "" "" "SEQ" "DNA" "" "17-gene panel"
"0000337039" "00335809" "1" "00000" "00006" "2021-03-09 09:58:04" "" "" "SEQ" "DNA" "" "17-gene panel"
"0000337040" "00335810" "1" "00000" "00006" "2021-03-09 09:58:04" "" "" "SEQ" "DNA" "" "17-gene panel"
"0000337041" "00335811" "1" "00000" "00006" "2021-03-09 09:58:04" "" "" "SEQ" "DNA" "" "17-gene panel"
"0000337042" "00335812" "1" "00000" "00006" "2021-03-09 09:58:04" "" "" "SEQ" "DNA" "" "17-gene panel"
"0000337043" "00335813" "1" "00000" "00006" "2021-03-09 09:58:04" "" "" "SEQ" "DNA" "" "17-gene panel"
"0000337044" "00335814" "1" "00000" "00006" "2021-03-09 09:58:04" "" "" "SEQ" "DNA" "" "17-gene panel"
"0000337045" "00335815" "1" "00000" "00006" "2021-03-09 09:58:04" "" "" "SEQ" "DNA" "" "17-gene panel"
"0000337046" "00335816" "1" "00000" "00006" "2021-03-09 09:58:04" "" "" "SEQ" "DNA" "" "17-gene panel"
"0000337047" "00335817" "1" "00000" "00006" "2021-03-09 09:58:04" "" "" "SEQ" "DNA" "" "17-gene panel"
"0000337048" "00335818" "1" "00000" "00006" "2021-03-09 09:58:04" "" "" "SEQ" "DNA" "" "17-gene panel"
"0000337049" "00335819" "1" "00000" "00006" "2021-03-09 09:58:04" "" "" "SEQ" "DNA" "" "17-gene panel"
"0000337050" "00335820" "1" "00000" "00006" "2021-03-09 09:58:04" "" "" "SEQ" "DNA" "" "17-gene panel"
"0000337051" "00335821" "1" "00000" "00006" "2021-03-09 09:58:04" "" "" "SEQ" "DNA" "" "17-gene panel"
"0000337052" "00335822" "1" "00000" "00006" "2021-03-09 09:58:04" "" "" "SEQ" "DNA" "" "17-gene panel"
"0000337053" "00335823" "1" "00000" "00006" "2021-03-09 09:58:04" "" "" "SEQ" "DNA" "" "17-gene panel"
"0000337054" "00335824" "1" "00000" "00006" "2021-03-09 09:58:04" "" "" "SEQ" "DNA" "" "17-gene panel"
"0000337055" "00335825" "1" "00000" "00006" "2021-03-09 09:58:04" "" "" "SEQ" "DNA" "" "17-gene panel"
"0000337056" "00335826" "1" "00000" "00006" "2021-03-09 09:58:04" "" "" "SEQ" "DNA" "" "17-gene panel"
"0000337057" "00335827" "1" "00000" "00006" "2021-03-09 09:58:04" "" "" "SEQ" "DNA" "" "17-gene panel"
"0000337058" "00335828" "1" "00000" "00006" "2021-03-09 09:58:04" "" "" "SEQ" "DNA" "" "17-gene panel"
"0000337059" "00335829" "1" "00000" "00006" "2021-03-09 09:58:04" "" "" "SEQ" "DNA" "" "17-gene panel"
"0000337060" "00335830" "1" "00000" "00006" "2021-03-09 09:58:04" "" "" "SEQ" "DNA" "" "17-gene panel"
"0000337061" "00335831" "1" "00000" "00006" "2021-03-09 09:58:04" "" "" "SEQ" "DNA" "" "17-gene panel"
"0000337062" "00335832" "1" "00000" "00006" "2021-03-09 09:58:04" "" "" "SEQ" "DNA" "" "17-gene panel"
"0000337063" "00335833" "1" "00000" "00006" "2021-03-09 09:58:04" "" "" "SEQ" "DNA" "" "17-gene panel"
"0000337064" "00335834" "1" "00000" "00006" "2021-03-09 09:58:04" "" "" "SEQ" "DNA" "" "17-gene panel"
"0000337181" "00335951" "1" "00000" "00006" "2021-03-09 16:40:10" "" "" "SEQ-NG" "DNA" "" "WES"
"0000337185" "00335955" "1" "00000" "00006" "2021-03-10 17:05:56" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000360016" "00358786" "1" "00000" "00006" "2021-03-12 09:26:03" "" "" "SEQ-NG" "DNA" "" "226-gene panel"
"0000360169" "00358937" "1" "00006" "00006" "2021-03-17 16:36:11" "" "" "SEQ" "DNA" "" ""
"0000360171" "00358938" "1" "00006" "00006" "2021-03-17 16:41:00" "" "" "SEQ" "DNA" "" ""
"0000360183" "00358946" "1" "00000" "00006" "2021-03-18 12:15:00" "" "" "SEQ-NG" "DNA" "" "WES"
"0000360184" "00358947" "1" "00000" "00006" "2021-03-18 12:15:00" "" "" "SEQ-NG" "DNA" "" "WES"
"0000360185" "00358948" "1" "00000" "00006" "2021-03-18 12:15:00" "" "" "SEQ-NG" "DNA" "" "WES"
"0000360186" "00358949" "1" "00000" "00006" "2021-03-18 12:15:00" "" "" "SEQ-NG" "DNA" "" "WES"
"0000360187" "00358950" "1" "00000" "00006" "2021-03-18 12:15:00" "" "" "SEQ-NG" "DNA" "" "WES"
"0000360188" "00358951" "1" "00000" "00006" "2021-03-18 12:15:00" "" "" "SEQ-NG" "DNA" "" "WES"
"0000360189" "00358952" "1" "00000" "00006" "2021-03-18 12:15:00" "" "" "SEQ-NG" "DNA" "" "WES"
"0000360195" "00358958" "1" "00000" "00006" "2021-03-18 12:15:00" "" "" "SEQ-NG" "DNA" "" "WES"
"0000360202" "00358965" "1" "00000" "00006" "2021-03-18 12:15:00" "" "" "SEQ-NG" "DNA" "" "WES"
"0000360203" "00358966" "1" "00000" "00006" "2021-03-18 12:15:00" "" "" "SEQ-NG" "DNA" "" "WES"
"0000360214" "00358977" "1" "00000" "00006" "2021-03-18 12:15:00" "" "" "SEQ-NG" "DNA" "" "WES"
"0000360218" "00358981" "1" "00000" "00006" "2021-03-18 12:15:00" "" "" "SEQ-NG" "DNA" "" "WES"
"0000360248" "00359010" "1" "00000" "00006" "2021-03-18 16:44:20" "" "" "SEQ" "DNA" "" "105-gene panel"
"0000360272" "00359034" "1" "00000" "00006" "2021-03-18 16:44:20" "" "" "SEQ" "DNA" "" "105-gene panel"
"0000360274" "00359036" "1" "00000" "00006" "2021-03-18 16:44:20" "" "" "SEQ" "DNA" "" "105-gene panel"
"0000360276" "00359038" "1" "00000" "00006" "2021-03-18 16:44:20" "" "" "SEQ" "DNA" "" "105-gene panel"
"0000360277" "00359039" "1" "00000" "00006" "2021-03-18 16:44:20" "" "" "SEQ" "DNA" "" "105-gene panel"
"0000360381" "00359143" "1" "00000" "00006" "2021-03-18 16:44:20" "" "" "SEQ" "DNA" "" "105-gene panel"
"0000360382" "00359144" "1" "00000" "00006" "2021-03-18 16:44:20" "" "" "SEQ" "DNA" "" "105-gene panel"
"0000360435" "00359197" "1" "00000" "00006" "2021-03-18 16:44:20" "" "" "SEQ" "DNA" "" "105-gene panel"
"0000360459" "00359221" "1" "00000" "00006" "2021-03-18 16:44:20" "" "" "SEQ" "DNA" "" "105-gene panel"
"0000360462" "00359224" "1" "00000" "00006" "2021-03-18 16:44:20" "" "" "SEQ" "DNA" "" "105-gene panel"
"0000360463" "00359225" "1" "00000" "00006" "2021-03-18 16:44:20" "" "" "SEQ" "DNA" "" "105-gene panel"
"0000360466" "00359228" "1" "00000" "00006" "2021-03-18 16:44:20" "" "" "SEQ" "DNA" "" "105-gene panel"
"0000360469" "00359231" "1" "00000" "00006" "2021-03-18 16:44:20" "" "" "SEQ" "DNA" "" "105-gene panel"
"0000360470" "00359232" "1" "00000" "00006" "2021-03-18 16:44:20" "" "" "SEQ" "DNA" "" "105-gene panel"
"0000360471" "00359233" "1" "00000" "00006" "2021-03-18 16:44:20" "" "" "SEQ" "DNA" "" "105-gene panel"
"0000360473" "00359235" "1" "00000" "00006" "2021-03-18 16:44:20" "" "" "SEQ" "DNA" "" "105-gene panel"
"0000360477" "00359239" "1" "00000" "00006" "2021-03-18 16:44:20" "" "" "SEQ" "DNA" "" "105-gene panel"
"0000360479" "00359241" "1" "00000" "00006" "2021-03-18 16:44:20" "" "" "SEQ" "DNA" "" "105-gene panel"
"0000360480" "00359242" "1" "00000" "00006" "2021-03-18 16:44:20" "" "" "SEQ" "DNA" "" "105-gene panel"
"0000360505" "00359267" "1" "00000" "00006" "2021-03-18 16:44:20" "" "" "SEQ" "DNA" "" "105-gene panel"
"0000360607" "00359365" "1" "00000" "00006" "2021-03-19 18:50:51" "" "" "SEQ-NG" "DNA" "" "64-gene panel"
"0000360690" "00359460" "1" "01807" "01807" "2021-03-22 12:33:01" "" "" "SEQ" "DNA" "" ""
"0000360734" "00359505" "1" "00000" "00006" "2021-03-23 14:52:32" "" "" "SEQ" "DNA" "" ""
"0000360735" "00359506" "1" "00000" "00006" "2021-03-23 14:52:32" "" "" "SEQ" "DNA" "" ""
"0000360736" "00359507" "1" "00000" "00006" "2021-03-23 14:52:32" "" "" "SEQ" "DNA" "" ""
"0000360737" "00359508" "1" "00000" "00006" "2021-03-23 14:52:32" "" "" "SEQ" "DNA" "" ""
"0000360738" "00359509" "1" "00000" "00006" "2021-03-23 14:52:32" "" "" "SEQ" "DNA" "" ""
"0000360739" "00359510" "1" "00000" "00006" "2021-03-23 14:52:32" "" "" "SEQ" "DNA" "" ""
"0000360740" "00359511" "1" "00000" "00006" "2021-03-23 14:52:32" "" "" "SEQ" "DNA" "" ""
"0000360741" "00359512" "1" "00000" "00006" "2021-03-23 14:52:32" "" "" "SEQ" "DNA" "" ""
"0000360742" "00359513" "1" "00000" "00006" "2021-03-23 14:52:32" "" "" "SEQ" "DNA" "" ""
"0000360743" "00359514" "1" "00000" "00006" "2021-03-23 14:52:32" "" "" "SEQ" "DNA" "" ""
"0000360744" "00359515" "1" "00000" "00006" "2021-03-23 14:52:32" "" "" "SEQ" "DNA" "" ""
"0000360745" "00359516" "1" "00000" "00006" "2021-03-23 14:52:32" "" "" "SEQ" "DNA" "" ""
"0000360746" "00359517" "1" "00000" "00006" "2021-03-23 14:52:32" "" "" "SEQ" "DNA" "" ""
"0000360747" "00359518" "1" "00000" "00006" "2021-03-23 14:52:32" "" "" "SEQ" "DNA" "" ""
"0000360748" "00359519" "1" "00000" "00006" "2021-03-23 14:52:32" "" "" "SEQ" "DNA" "" ""
"0000360749" "00359520" "1" "00000" "00006" "2021-03-23 14:52:32" "" "" "SEQ" "DNA" "" ""
"0000360750" "00359521" "1" "00000" "00006" "2021-03-23 14:52:32" "" "" "SEQ" "DNA" "" ""
"0000360751" "00359522" "1" "00000" "00006" "2021-03-23 14:52:32" "" "" "SEQ" "DNA" "" ""
"0000360752" "00359523" "1" "00000" "00006" "2021-03-23 14:52:32" "" "" "SEQ" "DNA" "" ""
"0000360753" "00359524" "1" "00000" "00006" "2021-03-23 14:52:32" "" "" "SEQ" "DNA" "" ""
"0000360754" "00359525" "1" "00000" "00006" "2021-03-23 14:52:32" "" "" "SEQ" "DNA" "" ""
"0000360755" "00359526" "1" "00000" "00006" "2021-03-23 14:52:32" "" "" "SEQ" "DNA" "" ""
"0000361836" "00360608" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "arraySNP;PCR;SEQ" "DNA" "blood" ""
"0000361837" "00360609" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "arraySNP;PCR;SEQ" "DNA" "blood" ""
"0000363055" "00361827" "1" "02404" "02404" "2021-04-11 12:57:56" "" "" "SEQ-NG-I" "DNA" "" "Exome sequencing"
"0000363304" "00362075" "1" "00006" "00006" "2021-04-15 14:35:20" "" "" "SEQ-NG" "DNA" "" "WES"
"0000363305" "00362076" "1" "00006" "00006" "2021-04-15 14:35:20" "" "" "SEQ-NG" "DNA" "" "WES"
"0000363306" "00362077" "1" "00006" "00006" "2021-04-15 14:35:20" "" "" "SEQ-NG" "DNA" "" "WES"
"0000363307" "00362078" "1" "00006" "00006" "2021-04-15 14:35:20" "" "" "SEQ-NG" "DNA" "" "WES"
"0000363308" "00362079" "1" "00006" "00006" "2021-04-15 14:35:20" "" "" "SEQ-NG" "DNA" "" "WES"
"0000363309" "00362080" "1" "00006" "00006" "2021-04-15 14:35:20" "" "" "SEQ-NG" "DNA" "" "WES"
"0000363387" "00362158" "1" "00000" "00006" "2021-04-15 15:27:01" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000363388" "00362159" "1" "00000" "00006" "2021-04-15 15:27:01" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000363391" "00362162" "1" "00000" "00006" "2021-04-15 15:27:01" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000363393" "00362164" "1" "00000" "00006" "2021-04-15 15:27:01" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000363413" "00362184" "1" "00000" "00006" "2021-04-15 17:02:42" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000363434" "00362205" "1" "04043" "00006" "2021-04-16 13:26:31" "" "" "SEQ-NG" "DNA" "" ""
"0000363435" "00362206" "1" "04043" "00006" "2021-04-16 13:26:31" "" "" "SEQ-NG" "DNA" "" ""
"0000363436" "00362207" "1" "04043" "00006" "2021-04-16 13:26:31" "" "" "SEQ-NG" "DNA" "" ""
"0000363437" "00362208" "1" "04043" "00006" "2021-04-16 13:26:31" "" "" "SEQ-NG" "DNA" "" ""
"0000363471" "00362242" "1" "04043" "00006" "2021-04-16 13:26:31" "" "" "SEQ-NG" "DNA" "" ""
"0000363883" "00362655" "1" "00008" "00008" "2021-04-22 15:23:44" "" "" "SEQ" "DNA" "blood" ""
"0000363884" "00362656" "1" "00008" "00008" "2021-04-22 15:23:44" "" "" "SEQ" "DNA" "blood" ""
"0000363885" "00362657" "1" "00008" "00008" "2021-04-22 15:23:44" "" "" "SEQ" "DNA" "blood" ""
"0000363886" "00362658" "1" "00008" "00008" "2021-04-22 15:23:44" "" "" "SEQ" "DNA" "blood" ""
"0000363887" "00362659" "1" "00008" "00008" "2021-04-22 15:23:44" "" "" "SEQ" "DNA" "blood" ""
"0000363888" "00362660" "1" "00008" "00008" "2021-04-22 15:23:44" "" "" "SEQ" "DNA" "blood" ""
"0000363889" "00362661" "1" "00008" "00008" "2021-04-22 15:23:44" "" "" "SEQ" "DNA" "blood" ""
"0000363890" "00362662" "1" "00008" "00008" "2021-04-22 15:23:44" "" "" "SEQ" "DNA" "blood" ""
"0000363891" "00362663" "1" "00008" "00008" "2021-04-22 15:23:44" "" "" "SEQ" "DNA" "blood" ""
"0000363892" "00362664" "1" "00008" "00008" "2021-04-22 15:23:44" "" "" "SEQ" "DNA" "blood" ""
"0000363893" "00362665" "1" "00008" "00008" "2021-04-22 15:23:44" "" "" "SEQ" "DNA" "blood" ""
"0000363894" "00362666" "1" "00008" "00008" "2021-04-22 15:23:44" "" "" "SEQ" "DNA" "blood" ""
"0000363895" "00362667" "1" "00008" "00008" "2021-04-22 15:23:44" "" "" "SEQ" "DNA" "blood" ""
"0000363896" "00362668" "1" "00008" "00008" "2021-04-22 15:23:44" "" "" "SEQ" "DNA" "blood" ""
"0000363897" "00362669" "1" "00008" "00008" "2021-04-22 15:23:44" "" "" "SEQ" "DNA" "blood" ""
"0000363898" "00362670" "1" "00008" "00008" "2021-04-22 15:23:44" "" "" "SEQ" "DNA" "blood" ""
"0000363899" "00362671" "1" "00008" "00008" "2021-04-22 15:23:44" "" "" "SEQ" "DNA" "blood" ""
"0000363900" "00362672" "1" "00008" "00008" "2021-04-22 15:23:44" "" "" "SEQ" "DNA" "blood" ""
"0000363901" "00362673" "1" "00008" "00008" "2021-04-22 15:23:44" "" "" "SEQ" "DNA" "blood" ""
"0000363902" "00362674" "1" "00008" "00008" "2021-04-22 15:23:44" "" "" "SEQ" "DNA" "blood" ""
"0000363903" "00362675" "1" "00008" "00008" "2021-04-22 15:23:44" "" "" "SEQ" "DNA" "blood" ""
"0000363904" "00362676" "1" "00008" "00008" "2021-04-22 15:23:44" "" "" "SEQ" "DNA" "blood" ""
"0000363905" "00362677" "1" "00008" "00008" "2021-04-22 15:23:44" "" "" "SEQ" "DNA" "blood" ""
"0000363906" "00362678" "1" "00008" "00008" "2021-04-22 15:23:44" "" "" "SEQ" "DNA" "blood" ""
"0000363912" "00362684" "1" "00008" "00008" "2021-04-22 15:23:44" "" "" "SEQ" "DNA" "blood" ""
"0000363913" "00362685" "1" "00008" "00008" "2021-04-22 15:23:44" "" "" "SEQ" "DNA" "blood" ""
"0000363914" "00362686" "1" "00008" "00008" "2021-04-22 15:23:44" "" "" "SEQ" "DNA" "blood" ""
"0000363915" "00362687" "1" "00008" "00008" "2021-04-22 15:23:44" "" "" "SEQ" "DNA" "blood" ""
"0000363916" "00362688" "1" "00008" "00008" "2021-04-22 15:23:44" "" "" "SEQ" "DNA" "blood" ""
"0000363917" "00362689" "1" "00008" "00008" "2021-04-22 15:23:44" "" "" "SEQ" "DNA" "blood" ""
"0000363918" "00362690" "1" "00008" "00008" "2021-04-22 15:23:44" "" "" "SEQ" "DNA" "blood" ""
"0000363919" "00362691" "1" "00008" "00008" "2021-04-22 15:23:44" "" "" "SEQ" "DNA" "blood" ""
"0000363920" "00362692" "1" "00008" "00008" "2021-04-22 15:23:44" "" "" "SEQ" "DNA" "blood" ""
"0000363921" "00362693" "1" "00008" "00008" "2021-04-22 15:23:44" "" "" "SEQ" "DNA" "blood" ""
"0000363922" "00362694" "1" "00008" "00008" "2021-04-22 15:23:44" "" "" "SEQ" "DNA" "blood" ""
"0000363923" "00362695" "1" "00008" "00008" "2021-04-22 15:23:44" "" "" "SEQ" "DNA" "blood" ""
"0000364147" "00362919" "1" "00000" "00006" "2021-04-23 19:25:57" "" "" "SEQ-NG" "DNA" "" "WES"
"0000364155" "00362927" "1" "00000" "00006" "2021-04-23 19:25:57" "" "" "SEQ-NG" "DNA" "" "WES"
"0000364163" "00362935" "1" "00000" "00006" "2021-04-23 19:25:57" "" "" "SEQ-NG" "DNA" "" "gene panel, WES"
"0000364164" "00362936" "1" "00000" "00006" "2021-04-23 19:25:57" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000364807" "00363579" "1" "00000" "00006" "2021-04-29 16:11:05" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000364808" "00363580" "1" "00000" "00006" "2021-04-29 16:11:05" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000364810" "00363582" "1" "00000" "00006" "2021-04-29 16:11:05" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000364816" "00363588" "1" "00000" "00006" "2021-04-29 16:11:05" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000364854" "00363626" "1" "00000" "00006" "2021-04-29 16:11:05" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000364874" "00363646" "1" "00000" "00006" "2021-04-29 16:11:05" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000364884" "00363656" "1" "00000" "00006" "2021-04-29 16:11:05" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000364896" "00363668" "1" "00000" "00006" "2021-04-29 16:11:05" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000364935" "00363707" "1" "00000" "00006" "2021-04-29 16:11:05" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000364953" "00363725" "1" "00000" "00006" "2021-04-29 16:11:05" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000364955" "00363727" "1" "00000" "00006" "2021-04-29 16:11:05" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000364970" "00363742" "1" "00000" "00006" "2021-04-29 16:11:05" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000364977" "00363749" "1" "00000" "00006" "2021-04-29 16:11:05" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000365125" "00363897" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PCR;SEQ" "DNA" "" ""
"0000365126" "00363898" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PCR;SEQ" "DNA" "" ""
"0000365127" "00363899" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PCR;SEQ" "DNA" "" ""
"0000365128" "00363900" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PCR;SEQ" "DNA" "" ""
"0000365129" "00363901" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PCR;SEQ" "DNA" "" ""
"0000365130" "00363902" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PCR;SEQ" "DNA" "" ""
"0000365131" "00363903" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PCR;SEQ" "DNA" "" ""
"0000365132" "00363904" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PCR;SEQ" "DNA" "" ""
"0000365133" "00363905" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PCR;SEQ" "DNA" "" ""
"0000365134" "00363906" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PCR;SEQ" "DNA" "" ""
"0000365135" "00363907" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PCR;SEQ" "DNA" "" ""
"0000365136" "00363908" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PCR;SEQ" "DNA" "" ""
"0000365137" "00363909" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PCR;SEQ" "DNA" "" ""
"0000365138" "00363910" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PCR;SEQ" "DNA" "" ""
"0000365139" "00363911" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PCR;SEQ" "DNA" "" ""
"0000365140" "00363912" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PCR;SEQ" "DNA" "" ""
"0000365141" "00363913" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PCR;SEQ" "DNA" "" ""
"0000365142" "00363914" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PCR;SEQ" "DNA" "" ""
"0000365143" "00363915" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PCR;SEQ" "DNA" "" ""
"0000365144" "00363916" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PCR;SEQ" "DNA" "" ""
"0000365145" "00363917" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PCR;SEQ" "DNA" "" ""
"0000365146" "00363918" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PCR;SEQ" "DNA" "" ""
"0000365147" "00363919" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PCR;SEQ" "DNA" "" ""
"0000365148" "00363920" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PCR;SEQ" "DNA" "" ""
"0000365149" "00363921" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PCR;SEQ" "DNA" "" ""
"0000365150" "00363922" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PCR;SEQ" "DNA" "" ""
"0000365151" "00363923" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PCR;SEQ" "DNA" "" ""
"0000365152" "00363924" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PCR;SEQ" "DNA" "" ""
"0000365153" "00363925" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PCR;SEQ" "DNA" "" ""
"0000365154" "00363926" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PCR;SEQ" "DNA" "" ""
"0000365155" "00363927" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PCR;SEQ" "DNA" "" ""
"0000365156" "00363928" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PCR;SEQ" "DNA" "" ""
"0000365157" "00363929" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PCR;SEQ" "DNA" "" ""
"0000365158" "00363930" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PCR;SEQ" "DNA" "" ""
"0000365159" "00363931" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PCR;SEQ" "DNA" "" ""
"0000365160" "00363932" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PCR;SEQ" "DNA" "" ""
"0000365161" "00363933" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PCR;SEQ" "DNA" "" ""
"0000365162" "00363934" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PCR;SEQ" "DNA" "" ""
"0000365163" "00363935" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PCR;SEQ" "DNA" "" ""
"0000365164" "00363936" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PCR;SEQ" "DNA" "" ""
"0000365165" "00363937" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PCR;SEQ" "DNA" "" ""
"0000365166" "00363938" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PCR;SEQ" "DNA" "" ""
"0000365167" "00363939" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PCR;SEQ" "DNA" "" ""
"0000365168" "00363940" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PCR;SEQ" "DNA" "" ""
"0000365169" "00363941" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PCR;SEQ" "DNA" "" ""
"0000365170" "00363942" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PCR;SEQ" "DNA" "" ""
"0000365171" "00363943" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PCR;SEQ" "DNA" "" ""
"0000365172" "00363944" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PCR;SEQ" "DNA" "" ""
"0000365173" "00363945" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PCR;SEQ" "DNA" "" ""
"0000365174" "00363946" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PCR;SEQ" "DNA" "" ""
"0000365175" "00363947" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PCR;SEQ" "DNA" "" ""
"0000365176" "00363948" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PCR;SEQ" "DNA" "" ""
"0000365177" "00363949" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PCR;SEQ" "DNA" "" ""
"0000365178" "00363950" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PCR;SEQ" "DNA" "" ""
"0000365179" "00363951" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PCR;SEQ" "DNA" "" ""
"0000365180" "00363952" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PCR;SEQ" "DNA" "" ""
"0000365181" "00363953" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PCR;SEQ" "DNA" "" ""
"0000365182" "00363954" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PCR;SEQ" "DNA" "" ""
"0000365183" "00363955" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PCR;SEQ" "DNA" "" ""
"0000365184" "00363956" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PCR;SEQ" "DNA" "" ""
"0000365185" "00363957" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PCR;SEQ" "DNA" "" ""
"0000365186" "00363958" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PCR;SEQ" "DNA" "" ""
"0000365187" "00363959" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PCR;SEQ" "DNA" "" ""
"0000365188" "00363960" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PCR;SEQ" "DNA" "" ""
"0000365189" "00363961" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PCR;SEQ" "DNA" "" ""
"0000365190" "00363962" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PCR;SEQ" "DNA" "" ""
"0000365191" "00363963" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PCR;SEQ" "DNA" "" ""
"0000365192" "00363964" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PCR;SEQ" "DNA" "" ""
"0000365193" "00363965" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PCR;SEQ" "DNA" "" ""
"0000365194" "00363966" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PCR;SEQ" "DNA" "" ""
"0000365195" "00363967" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PCR;SEQ" "DNA" "" ""
"0000365196" "00363968" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PCR;SEQ" "DNA" "" ""
"0000365197" "00363969" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PCR;SEQ" "DNA" "" ""
"0000365198" "00363970" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PCR;SEQ" "DNA" "" ""
"0000365199" "00363971" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PCR;SEQ" "DNA" "" ""
"0000365200" "00363972" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PCR;SEQ" "DNA" "" ""
"0000365201" "00363973" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PCR;SEQ" "DNA" "" ""
"0000365202" "00363974" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PCR;SEQ" "DNA" "" ""
"0000365203" "00363975" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PCR;SEQ" "DNA" "" ""
"0000365204" "00363976" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PCR;SEQ" "DNA" "" ""
"0000365205" "00363977" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PCR;SEQ" "DNA" "" ""
"0000365206" "00363978" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PCR;SEQ" "DNA" "" ""
"0000365207" "00363979" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PCR;SEQ" "DNA" "" ""
"0000365208" "00363980" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PCR;SEQ" "DNA" "" ""
"0000365209" "00363981" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PCR;SEQ" "DNA" "" ""
"0000365210" "00363982" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PCR;SEQ" "DNA" "" ""
"0000365211" "00363983" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PCR;SEQ" "DNA" "" ""
"0000365212" "00363984" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PCR;SEQ" "DNA" "" ""
"0000365213" "00363985" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PCR;SEQ" "DNA" "" ""
"0000365214" "00363986" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PCR;SEQ" "DNA" "" ""
"0000365215" "00363987" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PCR;SEQ" "DNA" "" ""
"0000365216" "00363988" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PCR;SEQ" "DNA" "" ""
"0000365217" "00363989" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PCR;SEQ" "DNA" "" ""
"0000365218" "00363990" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PCR;SEQ" "DNA" "" ""
"0000365219" "00363991" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PCR;SEQ" "DNA" "" ""
"0000365220" "00363992" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PCR;SEQ" "DNA" "" ""
"0000365221" "00363993" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PCR;SEQ" "DNA" "" ""
"0000365222" "00363994" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PCR;SEQ" "DNA" "" ""
"0000365223" "00363995" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PCR;SEQ" "DNA" "" ""
"0000365224" "00363996" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PCR;SEQ" "DNA" "" ""
"0000365225" "00363997" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PCR;SEQ" "DNA" "" ""
"0000365226" "00363998" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PCR;SEQ" "DNA" "" ""
"0000365227" "00363999" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PCR;SEQ" "DNA" "" ""
"0000365228" "00364000" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PCR;SEQ" "DNA" "" ""
"0000365229" "00364001" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PCR;SEQ" "DNA" "" ""
"0000365230" "00364002" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PCR;SEQ" "DNA" "" ""
"0000365231" "00364003" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PCR;SEQ" "DNA" "" ""
"0000365232" "00364004" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PCR;SEQ" "DNA" "" ""
"0000365233" "00364005" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PCR;SEQ" "DNA" "" ""
"0000365234" "00364006" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PCR;SEQ" "DNA" "" ""
"0000365235" "00364007" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PCR;SEQ" "DNA" "" ""
"0000365236" "00364008" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PCR;SEQ" "DNA" "" ""
"0000365237" "00364009" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PCR;SEQ" "DNA" "" ""
"0000365238" "00364010" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PCR;SEQ" "DNA" "" ""
"0000365239" "00364011" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PCR;SEQ" "DNA" "" ""
"0000365240" "00364012" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PCR;SEQ" "DNA" "" ""
"0000365241" "00364013" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PCR;SEQ" "DNA" "" ""
"0000365242" "00364014" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PCR;SEQ" "DNA" "" ""
"0000365243" "00364015" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PCR;SEQ" "DNA" "" ""
"0000365244" "00364016" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365245" "00364017" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000365246" "00364018" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365247" "00364019" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365248" "00364020" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365249" "00364021" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000365250" "00364022" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365251" "00364023" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000365252" "00364024" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365253" "00364025" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365254" "00364026" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000365255" "00364027" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365256" "00364028" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000365257" "00364029" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000365258" "00364030" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000365259" "00364031" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365260" "00364032" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365261" "00364033" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365262" "00364034" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365263" "00364035" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365264" "00364036" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000365265" "00364037" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365266" "00364038" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365267" "00364039" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365269" "00364041" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000365270" "00364042" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365271" "00364043" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365272" "00364044" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000365273" "00364045" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365274" "00364046" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000365275" "00364047" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365276" "00364048" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365277" "00364049" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000365278" "00364050" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365279" "00364051" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365280" "00364052" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365281" "00364053" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365282" "00364054" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365283" "00364055" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365284" "00364056" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365285" "00364057" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365286" "00364058" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365287" "00364059" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365288" "00364060" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365289" "00364061" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000365290" "00364062" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365291" "00364063" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000365292" "00364064" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365294" "00364066" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365295" "00364067" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000365296" "00364068" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365297" "00364069" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000365298" "00364070" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365299" "00364071" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365300" "00364072" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365301" "00364073" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365302" "00364074" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365303" "00364075" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000365304" "00364076" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365305" "00364077" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365306" "00364078" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365307" "00364079" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365308" "00364080" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000365309" "00364081" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365310" "00364082" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365311" "00364083" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365312" "00364084" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365313" "00364085" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000365314" "00364086" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000365315" "00364087" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365316" "00364088" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000365317" "00364089" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365318" "00364090" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365319" "00364091" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365320" "00364092" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365321" "00364093" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365322" "00364094" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365323" "00364095" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365324" "00364096" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000365325" "00364097" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365326" "00364098" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365327" "00364099" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365328" "00364100" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365329" "00364101" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365330" "00364102" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365331" "00364103" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365332" "00364104" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365333" "00364105" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365334" "00364106" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365335" "00364107" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000365336" "00364108" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000365337" "00364109" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365338" "00364110" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000365339" "00364111" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000365340" "00364112" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000365341" "00364113" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000365342" "00364114" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000365343" "00364115" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000365344" "00364116" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000365345" "00364117" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000365346" "00364118" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000365347" "00364119" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000365348" "00364120" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000365349" "00364121" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000365350" "00364122" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000365351" "00364123" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000365352" "00364124" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000365353" "00364125" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000365354" "00364126" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000365355" "00364127" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000365356" "00364128" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000365357" "00364129" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000365358" "00364130" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000365359" "00364131" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000365360" "00364132" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000365361" "00364133" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000365362" "00364134" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000365363" "00364135" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000365364" "00364136" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000365365" "00364137" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000365366" "00364138" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000365367" "00364139" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000365368" "00364140" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000365369" "00364141" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000365370" "00364142" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000365371" "00364143" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000365372" "00364144" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000365373" "00364145" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000365374" "00364146" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000365375" "00364147" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000365376" "00364148" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000365377" "00364149" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000365378" "00364150" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000365379" "00364151" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000365380" "00364152" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000365381" "00364153" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000365382" "00364154" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000365383" "00364155" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000365384" "00364156" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000365385" "00364157" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000365386" "00364158" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000365387" "00364159" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SSCA;SEQ" "DNA" "" ""
"0000365388" "00364160" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SSCA;SEQ" "DNA" "" ""
"0000365389" "00364161" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SSCA;SEQ" "DNA" "" ""
"0000365390" "00364162" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SSCA;SEQ" "DNA" "" ""
"0000365391" "00364163" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365392" "00364164" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365393" "00364165" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365394" "00364166" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365395" "00364167" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365396" "00364168" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365397" "00364169" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365398" "00364170" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365399" "00364171" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365400" "00364172" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365401" "00364173" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365402" "00364174" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365403" "00364175" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365404" "00364176" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365405" "00364177" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365406" "00364178" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365407" "00364179" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365408" "00364180" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365409" "00364181" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365410" "00364182" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365411" "00364183" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365412" "00364184" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365413" "00364185" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365414" "00364186" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365415" "00364187" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365416" "00364188" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365417" "00364189" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365418" "00364190" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365419" "00364191" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365420" "00364192" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365421" "00364193" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365422" "00364194" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365423" "00364195" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365424" "00364196" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365425" "00364197" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365426" "00364198" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365427" "00364199" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365428" "00364200" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365429" "00364201" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "DGGE;DHPLC;SSCA;SEQ" "DNA" "" ""
"0000365430" "00364202" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365431" "00364203" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365432" "00364204" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365433" "00364205" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365434" "00364206" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365435" "00364207" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365436" "00364208" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365437" "00364209" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365438" "00364210" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365439" "00364211" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365440" "00364212" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365441" "00364213" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365442" "00364214" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365443" "00364215" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365444" "00364216" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365445" "00364217" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365446" "00364218" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365447" "00364219" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365448" "00364220" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365449" "00364221" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365450" "00364222" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365451" "00364223" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365452" "00364224" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365453" "00364225" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365454" "00364226" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365455" "00364227" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365456" "00364228" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365457" "00364229" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365458" "00364230" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365459" "00364231" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365460" "00364232" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365461" "00364233" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365462" "00364234" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365463" "00364235" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365464" "00364236" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365465" "00364237" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365466" "00364238" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365467" "00364239" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365468" "00364240" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365469" "00364241" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365470" "00364242" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365471" "00364243" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365472" "00364244" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365473" "00364245" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365474" "00364246" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365475" "00364247" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365476" "00364248" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365477" "00364249" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365478" "00364250" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365479" "00364251" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365480" "00364252" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365481" "00364253" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365482" "00364254" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365483" "00364255" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365484" "00364256" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365485" "00364257" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365486" "00364258" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365487" "00364259" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365488" "00364260" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365489" "00364261" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000365490" "00364262" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365491" "00364263" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365492" "00364264" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365493" "00364265" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365494" "00364266" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365495" "00364267" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365496" "00364268" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365497" "00364269" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365498" "00364270" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365499" "00364271" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365500" "00364272" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365501" "00364273" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365502" "00364274" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365503" "00364275" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365504" "00364276" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365505" "00364277" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365506" "00364278" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365507" "00364279" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365508" "00364280" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365509" "00364281" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365510" "00364282" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365511" "00364283" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365512" "00364284" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365513" "00364285" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365514" "00364286" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365515" "00364287" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365516" "00364288" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365517" "00364289" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365518" "00364290" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365519" "00364291" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365520" "00364292" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365521" "00364293" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365522" "00364294" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365523" "00364295" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365524" "00364296" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365525" "00364297" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365526" "00364298" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365527" "00364299" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365528" "00364300" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365529" "00364301" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000365530" "00364302" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000365531" "00364303" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000365532" "00364304" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000365533" "00364305" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000365534" "00364306" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000365535" "00364307" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000365536" "00364308" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000365537" "00364309" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000365538" "00364310" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000365539" "00364311" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000365540" "00364312" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000365541" "00364313" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000365542" "00364314" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000365543" "00364315" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "DGGE;DHPLC;SSCA" "DNA" "" ""
"0000365544" "00364316" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "DGGE;DHPLC;SSCA" "DNA" "" ""
"0000365545" "00364317" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "DGGE;DHPLC;SSCA" "DNA" "" ""
"0000365546" "00364318" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "DGGE;DHPLC;SSCA" "DNA" "" ""
"0000365547" "00364319" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "DGGE;DHPLC;SSCA" "DNA" "" ""
"0000365548" "00364320" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "DGGE;DHPLC;SSCA" "DNA" "" ""
"0000365549" "00364321" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "DGGE;DHPLC;SSCA" "DNA" "" ""
"0000365550" "00364322" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "DGGE;DHPLC;SSCA" "DNA" "" ""
"0000365551" "00364323" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "DGGE;DHPLC;SSCA" "DNA" "" ""
"0000365552" "00364324" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "DGGE;DHPLC;SSCA" "DNA" "" ""
"0000365553" "00364325" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "DGGE;DHPLC;SSCA" "DNA" "" ""
"0000365554" "00364326" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "DGGE;DHPLC;SSCA" "DNA" "" ""
"0000365555" "00364327" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "DGGE;DHPLC;SSCA" "DNA" "" ""
"0000365556" "00364328" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "DGGE;DHPLC;SSCA" "DNA" "" ""
"0000365557" "00364329" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "DGGE;DHPLC;SSCA" "DNA" "" ""
"0000365558" "00364330" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "DGGE;DHPLC;SSCA" "DNA" "" ""
"0000365559" "00364331" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365560" "00364332" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000365561" "00364333" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000365562" "00364334" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000365563" "00364335" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000365564" "00364336" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000365565" "00364337" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000365566" "00364338" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000365567" "00364339" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000365568" "00364340" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000365569" "00364341" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000365570" "00364342" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000365571" "00364343" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000365572" "00364344" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000365573" "00364345" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000365574" "00364346" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000365575" "00364347" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000365576" "00364348" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000365577" "00364349" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365578" "00364350" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365579" "00364351" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365580" "00364352" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365581" "00364353" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365582" "00364354" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365583" "00364355" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365584" "00364356" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365585" "00364357" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365586" "00364358" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365587" "00364359" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365588" "00364360" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365589" "00364361" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365590" "00364362" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365591" "00364363" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365592" "00364364" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365593" "00364365" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365594" "00364366" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365595" "00364367" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365596" "00364368" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365597" "00364369" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365598" "00364370" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365599" "00364371" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365600" "00364372" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365601" "00364373" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365602" "00364374" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365603" "00364375" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365604" "00364376" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365605" "00364377" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365606" "00364378" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365607" "00364379" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365608" "00364380" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365609" "00364381" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365610" "00364382" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365611" "00364383" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365612" "00364384" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365613" "00364385" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365614" "00364386" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365615" "00364387" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365616" "00364388" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365617" "00364389" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365618" "00364390" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365619" "00364391" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365620" "00364392" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365621" "00364393" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365622" "00364394" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365623" "00364395" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365624" "00364396" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365625" "00364397" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365626" "00364398" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365627" "00364399" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365628" "00364400" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365629" "00364401" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365630" "00364402" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365631" "00364403" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365632" "00364404" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365633" "00364405" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365634" "00364406" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365635" "00364407" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365636" "00364408" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365637" "00364409" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365638" "00364410" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365639" "00364411" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365640" "00364412" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365641" "00364413" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365642" "00364414" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365643" "00364415" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365644" "00364416" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365645" "00364417" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365646" "00364418" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365647" "00364419" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365648" "00364420" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365649" "00364421" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365650" "00364422" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365651" "00364423" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365652" "00364424" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365653" "00364425" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365654" "00364426" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365655" "00364427" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365656" "00364428" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365657" "00364429" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365658" "00364430" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365659" "00364431" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365660" "00364432" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365661" "00364433" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365662" "00364434" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365663" "00364435" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365664" "00364436" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365665" "00364437" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365666" "00364438" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365667" "00364439" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365668" "00364440" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365669" "00364441" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365670" "00364442" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365671" "00364443" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365672" "00364444" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365673" "00364445" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365674" "00364446" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365675" "00364447" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365676" "00364448" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365677" "00364449" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365678" "00364450" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365679" "00364451" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365680" "00364452" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365681" "00364453" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365682" "00364454" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365683" "00364455" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365684" "00364456" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365685" "00364457" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365686" "00364458" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365687" "00364459" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365688" "00364460" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365689" "00364461" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365690" "00364462" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365691" "00364463" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365692" "00364464" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365693" "00364465" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365694" "00364466" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365695" "00364467" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365696" "00364468" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365697" "00364469" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365698" "00364470" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365699" "00364471" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365700" "00364472" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365701" "00364473" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365702" "00364474" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365703" "00364475" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365704" "00364476" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365705" "00364477" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365706" "00364478" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365707" "00364479" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365708" "00364480" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365709" "00364481" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365710" "00364482" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365711" "00364483" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365712" "00364484" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365713" "00364485" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365714" "00364486" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365715" "00364487" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365716" "00364488" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365717" "00364489" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365718" "00364490" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365719" "00364491" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365720" "00364492" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365721" "00364493" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365722" "00364494" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365723" "00364495" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365724" "00364496" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ;DHPLC;MLPA" "DNA" "" "APEX"
"0000365725" "00364497" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ;DHPLC;MLPA" "DNA" "" "APEX"
"0000365726" "00364498" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ;DHPLC;MLPA" "DNA" "" "APEX"
"0000365727" "00364499" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ;DHPLC;MLPA" "DNA" "" "APEX"
"0000365728" "00364500" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ;DHPLC;MLPA" "DNA" "" "APEX"
"0000365729" "00364501" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ;DHPLC;MLPA" "DNA" "" "APEX"
"0000365730" "00364502" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ;DHPLC;MLPA" "DNA" "" "APEX"
"0000365731" "00364503" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ;DHPLC;MLPA" "DNA" "" "APEX"
"0000365732" "00364504" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ;DHPLC;MLPA" "DNA" "" "APEX"
"0000365733" "00364505" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ;DHPLC;MLPA" "DNA" "" "APEX"
"0000365734" "00364506" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ;DHPLC;MLPA" "DNA" "" "APEX"
"0000365735" "00364507" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ;DHPLC;MLPA" "DNA" "" "APEX"
"0000365736" "00364508" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ;DHPLC;MLPA" "DNA" "" "APEX"
"0000365737" "00364509" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ;DHPLC;MLPA" "DNA" "" "APEX"
"0000365738" "00364510" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365739" "00364511" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365740" "00364512" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365741" "00364513" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365742" "00364514" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365743" "00364515" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365744" "00364516" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365745" "00364517" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365746" "00364518" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365747" "00364519" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365748" "00364520" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365749" "00364521" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365750" "00364522" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365751" "00364523" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365752" "00364524" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365753" "00364525" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365754" "00364526" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000365755" "00364527" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000365756" "00364528" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000365757" "00364529" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000365758" "00364530" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000365759" "00364531" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000365760" "00364532" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000365761" "00364533" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000365762" "00364534" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000365763" "00364535" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000365764" "00364536" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365765" "00364537" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365766" "00364538" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365767" "00364539" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365768" "00364540" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365769" "00364541" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SSCA;SEQ" "DNA" "" ""
"0000365770" "00364542" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SSCA;SEQ" "DNA" "" ""
"0000365771" "00364543" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SSCA;SEQ" "DNA" "" ""
"0000365772" "00364544" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SSCA;SEQ" "DNA" "" ""
"0000365773" "00364545" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365774" "00364546" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365775" "00364547" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365776" "00364548" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365777" "00364549" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365778" "00364550" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365779" "00364551" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365780" "00364552" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365781" "00364553" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365782" "00364554" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365783" "00364555" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365784" "00364556" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365785" "00364557" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365786" "00364558" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365787" "00364559" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365788" "00364560" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365789" "00364561" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365790" "00364562" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365791" "00364563" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365792" "00364564" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365793" "00364565" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365794" "00364566" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365795" "00364567" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365796" "00364568" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365797" "00364569" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365798" "00364570" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365799" "00364571" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365800" "00364572" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365801" "00364573" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365802" "00364574" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365803" "00364575" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365804" "00364576" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365805" "00364577" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365806" "00364578" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365807" "00364579" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365808" "00364580" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365809" "00364581" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365810" "00364582" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365811" "00364583" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365812" "00364584" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365813" "00364585" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365814" "00364586" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365815" "00364587" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000365816" "00364588" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000365817" "00364589" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000365818" "00364590" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000365819" "00364591" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365820" "00364592" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365821" "00364593" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000365822" "00364594" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000365823" "00364595" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000365824" "00364596" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000365825" "00364597" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365826" "00364598" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365827" "00364599" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365828" "00364600" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365829" "00364601" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365830" "00364602" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365831" "00364603" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365832" "00364604" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365833" "00364605" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365834" "00364606" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365835" "00364607" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365836" "00364608" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365837" "00364609" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365838" "00364610" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365839" "00364611" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365840" "00364612" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365841" "00364613" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365842" "00364614" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365843" "00364615" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365844" "00364616" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365845" "00364617" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365846" "00364618" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365847" "00364619" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365848" "00364620" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365849" "00364621" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365850" "00364622" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365851" "00364623" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365852" "00364624" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365853" "00364625" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365854" "00364626" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365855" "00364627" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365856" "00364628" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365857" "00364629" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365858" "00364630" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365859" "00364631" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365860" "00364632" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365861" "00364633" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365862" "00364634" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365863" "00364635" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365864" "00364636" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365865" "00364637" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365866" "00364638" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365867" "00364639" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365868" "00364640" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365869" "00364641" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365870" "00364642" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365871" "00364643" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365872" "00364644" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365873" "00364645" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365874" "00364646" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365875" "00364647" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365876" "00364648" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365877" "00364649" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365878" "00364650" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365879" "00364651" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365880" "00364652" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365881" "00364653" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365882" "00364654" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365883" "00364655" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365884" "00364656" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365885" "00364657" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365886" "00364658" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365887" "00364659" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365888" "00364660" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365889" "00364661" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365890" "00364662" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365891" "00364663" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365892" "00364664" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365893" "00364665" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365894" "00364666" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365895" "00364667" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365896" "00364668" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365897" "00364669" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365898" "00364670" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365899" "00364671" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365900" "00364672" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365901" "00364673" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365902" "00364674" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365903" "00364675" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365904" "00364676" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365905" "00364677" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365906" "00364678" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365907" "00364679" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365908" "00364680" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365909" "00364681" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365910" "00364682" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365911" "00364683" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365912" "00364684" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365913" "00364685" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365914" "00364686" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365915" "00364687" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365916" "00364688" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365917" "00364689" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365918" "00364690" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365919" "00364691" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365920" "00364692" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365921" "00364693" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365922" "00364694" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365923" "00364695" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365924" "00364696" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365925" "00364697" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365926" "00364698" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365927" "00364699" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365928" "00364700" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365929" "00364701" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000365930" "00364702" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365931" "00364703" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000365932" "00364704" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000365933" "00364705" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000365934" "00364706" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000365935" "00364707" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000365936" "00364708" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000365937" "00364709" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000365938" "00364710" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000365939" "00364711" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000365940" "00364712" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000365941" "00364713" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000365942" "00364714" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000365943" "00364715" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000365944" "00364716" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000365945" "00364717" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000365946" "00364718" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "DGGE;PE;SEQ" "DNA" "" "APEX"
"0000365947" "00364719" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "DGGE;PE;SEQ" "DNA" "" "APEX"
"0000365948" "00364720" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "DGGE;PE;SEQ" "DNA" "" "APEX"
"0000365949" "00364721" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "DGGE;PE;SEQ" "DNA" "" "APEX"
"0000365950" "00364722" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "DGGE;PE;SEQ" "DNA" "" "APEX"
"0000365951" "00364723" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "DGGE;PE;SEQ" "DNA" "" "APEX"
"0000365952" "00364724" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "DGGE;PE;SEQ" "DNA" "" "APEX"
"0000365953" "00364725" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "DGGE;PE;SEQ" "DNA" "" "APEX"
"0000365954" "00364726" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "DGGE;PE;SEQ" "DNA" "" "APEX"
"0000365955" "00364727" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "DGGE;PE;SEQ" "DNA" "" "APEX"
"0000365956" "00364728" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "DGGE;PE;SEQ" "DNA" "" "APEX"
"0000365957" "00364729" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "DGGE;PE;SEQ" "DNA" "" "APEX"
"0000365958" "00364730" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "DGGE;PE;SEQ" "DNA" "" "APEX"
"0000365959" "00364731" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "DGGE;PE;SEQ" "DNA" "" "APEX"
"0000365960" "00364732" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "DGGE;PE;SEQ" "DNA" "" "APEX"
"0000365961" "00364733" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "DGGE;PE;SEQ" "DNA" "" "APEX"
"0000365962" "00364734" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "DGGE;PE;SEQ" "DNA" "" "APEX"
"0000365963" "00364735" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "DGGE;PE;SEQ" "DNA" "" "APEX"
"0000365964" "00364736" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "DGGE;PE;SEQ" "DNA" "" "APEX"
"0000365965" "00364737" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "DGGE;PE;SEQ" "DNA" "" "APEX"
"0000365966" "00364738" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "DGGE;PE;SEQ" "DNA" "" "APEX"
"0000365967" "00364739" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "DGGE;PE;SEQ" "DNA" "" "APEX"
"0000365968" "00364740" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ-NG-I" "DNA" "" "APEX"
"0000365969" "00364741" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000365970" "00364742" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000365971" "00364743" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000365972" "00364744" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" "exons 17;40;47"
"0000365973" "00364745" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000365974" "00364746" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000365975" "00364747" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000365976" "00364748" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365977" "00364749" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365978" "00364750" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365979" "00364751" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365980" "00364752" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365981" "00364753" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365982" "00364754" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365983" "00364755" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365984" "00364756" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365985" "00364757" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365986" "00364758" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365987" "00364759" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000365988" "00364760" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ-NG" "DNA" "" "APEX"
"0000365989" "00364761" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ-NG" "DNA" "" "APEX"
"0000365990" "00364762" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ-NG" "DNA" "" "APEX"
"0000365991" "00364763" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ-NG" "DNA" "" "APEX"
"0000365992" "00364764" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ-NG" "DNA" "" "APEX"
"0000365993" "00364765" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ-NG" "DNA" "" "APEX"
"0000365994" "00364766" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ-NG" "DNA" "" "APEX"
"0000365995" "00364767" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ-NG" "DNA" "" "APEX"
"0000365996" "00364768" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ-NG" "DNA" "" "APEX"
"0000365997" "00364769" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ-NG" "DNA" "" "APEX"
"0000365998" "00364770" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ-NG" "DNA" "" "APEX"
"0000365999" "00364771" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ-NG" "DNA" "" "APEX"
"0000366000" "00364772" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" "exon 14"
"0000366001" "00364773" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" "exon 14"
"0000366002" "00364774" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000366003" "00364775" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000366004" "00364776" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000366005" "00364777" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000366006" "00364778" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000366007" "00364779" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000366008" "00364780" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000366009" "00364781" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000366010" "00364782" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000366011" "00364783" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000366012" "00364784" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000366013" "00364785" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000366014" "00364786" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000366015" "00364787" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000366016" "00364788" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000366017" "00364789" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000366018" "00364790" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366019" "00364791" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366020" "00364792" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366021" "00364793" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000366022" "00364794" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366023" "00364795" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366024" "00364796" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366025" "00364797" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366026" "00364798" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366027" "00364799" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366028" "00364800" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366029" "00364801" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366030" "00364802" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366031" "00364803" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000366032" "00364804" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000366033" "00364805" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000366034" "00364806" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000366035" "00364807" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ-NG" "DNA" "" "APEX"
"0000366036" "00364808" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000366037" "00364809" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000366038" "00364810" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ-NG" "DNA" "" "APEX"
"0000366039" "00364811" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ-NG" "DNA" "" "APEX"
"0000366040" "00364812" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE" "DNA" "" "APEX"
"0000366041" "00364813" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE" "DNA" "" "APEX"
"0000366042" "00364814" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE" "DNA" "" "APEX"
"0000366043" "00364815" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE" "DNA" "" "APEX"
"0000366044" "00364816" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE" "DNA" "" "APEX"
"0000366045" "00364817" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE" "DNA" "" "APEX"
"0000366046" "00364818" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE" "DNA" "" "APEX"
"0000366047" "00364819" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE" "DNA" "" "APEX"
"0000366048" "00364820" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE" "DNA" "" "APEX"
"0000366049" "00364821" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE" "DNA" "" "APEX"
"0000366050" "00364822" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000366051" "00364823" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000366052" "00364824" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000366053" "00364825" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000366054" "00364826" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000366055" "00364827" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000366056" "00364828" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000366057" "00364829" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366058" "00364830" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366059" "00364831" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366060" "00364832" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366061" "00364833" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366062" "00364834" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366063" "00364835" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366064" "00364836" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366065" "00364837" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366066" "00364838" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366067" "00364839" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366068" "00364840" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366069" "00364841" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000366070" "00364842" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000366071" "00364843" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000366072" "00364844" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000366073" "00364845" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000366074" "00364846" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000366075" "00364847" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000366076" "00364848" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000366077" "00364849" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000366078" "00364850" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000366079" "00364851" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000366080" "00364852" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000366081" "00364853" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366082" "00364854" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366083" "00364855" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366084" "00364856" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366085" "00364857" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366086" "00364858" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366087" "00364859" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366088" "00364860" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366089" "00364861" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366090" "00364862" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366091" "00364863" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366092" "00364864" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366093" "00364865" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366094" "00364866" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366095" "00364867" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366096" "00364868" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366097" "00364869" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366098" "00364870" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366099" "00364871" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366100" "00364872" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366101" "00364873" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366102" "00364874" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366103" "00364875" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366104" "00364876" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366105" "00364877" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366106" "00364878" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366107" "00364879" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366108" "00364880" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366109" "00364881" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366110" "00364882" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366111" "00364883" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366112" "00364884" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366113" "00364885" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366114" "00364886" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366115" "00364887" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366116" "00364888" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366117" "00364889" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366118" "00364890" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366119" "00364891" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366120" "00364892" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000366121" "00364893" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000366122" "00364894" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000366123" "00364895" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000366124" "00364896" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000366125" "00364897" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000366126" "00364898" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000366127" "00364899" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000366128" "00364900" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000366129" "00364901" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000366130" "00364902" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000366131" "00364903" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000366132" "00364904" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000366133" "00364905" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000366134" "00364906" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000366135" "00364907" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000366136" "00364908" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000366137" "00364909" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000366138" "00364910" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000366139" "00364911" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000366140" "00364912" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000366141" "00364913" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000366142" "00364914" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000366143" "00364915" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000366144" "00364916" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000366145" "00364917" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000366146" "00364918" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000366147" "00364919" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000366148" "00364920" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000366149" "00364921" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366150" "00364922" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366151" "00364923" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ-NG" "DNA" "" "APEX"
"0000366152" "00364924" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ-NG" "DNA" "" "APEX"
"0000366153" "00364925" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ-NG" "DNA" "" "APEX"
"0000366154" "00364926" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ-NG" "DNA" "" "APEX"
"0000366155" "00364927" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ-NG" "DNA" "" "APEX"
"0000366156" "00364928" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ-NG" "DNA" "" "APEX"
"0000366157" "00364929" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ-NG" "DNA" "" "APEX"
"0000366158" "00364930" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366159" "00364931" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366160" "00364932" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366161" "00364933" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366162" "00364934" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366163" "00364935" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366164" "00364936" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366165" "00364937" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366166" "00364938" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366167" "00364939" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366168" "00364940" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366169" "00364941" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366170" "00364942" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366171" "00364943" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366172" "00364944" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366173" "00364945" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366174" "00364946" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366175" "00364947" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366176" "00364948" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366177" "00364949" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366178" "00364950" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366179" "00364951" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366180" "00364952" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366181" "00364953" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366182" "00364954" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366183" "00364955" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366184" "00364956" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366185" "00364957" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366186" "00364958" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366187" "00364959" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366188" "00364960" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366189" "00364961" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366190" "00364962" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366191" "00364963" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366192" "00364964" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366193" "00364965" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366194" "00364966" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366195" "00364967" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366196" "00364968" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366197" "00364969" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366198" "00364970" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366199" "00364971" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366200" "00364972" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366201" "00364973" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366202" "00364974" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366203" "00364975" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366204" "00364976" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366205" "00364977" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366206" "00364978" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366207" "00364979" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "WES"
"0000366208" "00364980" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "WES"
"0000366209" "00364981" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "WES"
"0000366210" "00364982" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "WES"
"0000366211" "00364983" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "WES"
"0000366212" "00364984" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000366213" "00364985" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000366214" "00364986" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000366215" "00364987" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000366216" "00364988" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000366217" "00364989" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000366218" "00364990" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000366219" "00364991" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000366220" "00364992" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000366221" "00364993" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000366222" "00364994" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000366223" "00364995" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000366224" "00364996" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000366225" "00364997" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SSCA;TaqMan" "DNA" "" "SNPlex"
"0000366226" "00364998" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SSCA;TaqMan" "DNA" "" "SNPlex"
"0000366227" "00364999" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SSCA;TaqMan" "DNA" "" "SNPlex"
"0000366228" "00365000" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366229" "00365001" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000366230" "00365002" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000366231" "00365003" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366232" "00365004" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366233" "00365005" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366234" "00365006" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366235" "00365007" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366236" "00365008" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366237" "00365009" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366238" "00365010" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366239" "00365011" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366240" "00365012" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366241" "00365013" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366242" "00365014" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366243" "00365015" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366244" "00365016" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366245" "00365017" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366246" "00365018" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366247" "00365019" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366248" "00365020" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366249" "00365021" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366250" "00365022" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366251" "00365023" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366252" "00365024" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366253" "00365025" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366254" "00365026" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366255" "00365027" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366256" "00365028" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366257" "00365029" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366258" "00365030" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366259" "00365031" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366260" "00365032" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366261" "00365033" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366262" "00365034" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366263" "00365035" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366264" "00365036" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366265" "00365037" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366266" "00365038" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366267" "00365039" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366268" "00365040" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366269" "00365041" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366270" "00365042" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366271" "00365043" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366272" "00365044" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366273" "00365045" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366274" "00365046" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366275" "00365047" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366276" "00365048" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366277" "00365049" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366278" "00365050" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366279" "00365051" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366280" "00365052" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366281" "00365053" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366282" "00365054" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366283" "00365055" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366284" "00365056" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366285" "00365057" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000366286" "00365058" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366287" "00365059" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366288" "00365060" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366289" "00365061" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366290" "00365062" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000366291" "00365063" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366292" "00365064" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366293" "00365065" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366294" "00365066" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366295" "00365067" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366296" "00365068" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366297" "00365069" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366298" "00365070" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366299" "00365071" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366300" "00365072" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366301" "00365073" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366302" "00365074" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366303" "00365075" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366304" "00365076" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366305" "00365077" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366306" "00365078" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366307" "00365079" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366308" "00365080" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366309" "00365081" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366310" "00365082" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366311" "00365083" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366312" "00365084" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366313" "00365085" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366314" "00365086" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366315" "00365087" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366316" "00365088" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366317" "00365089" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366318" "00365090" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366319" "00365091" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366320" "00365092" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366321" "00365093" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366322" "00365094" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366323" "00365095" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366324" "00365096" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366325" "00365097" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366326" "00365098" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366327" "00365099" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366328" "00365100" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366329" "00365101" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366330" "00365102" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366331" "00365103" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366332" "00365104" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366333" "00365105" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366334" "00365106" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366335" "00365107" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366336" "00365108" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366337" "00365109" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "WES"
"0000366338" "00365110" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "WES"
"0000366339" "00365111" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "WES"
"0000366340" "00365112" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "WES"
"0000366341" "00365113" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000366342" "00365114" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000366343" "00365115" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000366344" "00365116" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000366345" "00365117" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000366346" "00365118" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000366347" "00365119" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000366348" "00365120" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000366349" "00365121" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000366350" "00365122" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000366351" "00365123" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000366352" "00365124" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000366353" "00365125" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000366354" "00365126" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000366355" "00365127" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000366356" "00365128" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000366357" "00365129" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000366358" "00365130" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000366359" "00365131" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000366360" "00365132" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000366361" "00365133" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000366362" "00365134" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000366363" "00365135" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000366364" "00365136" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000366365" "00365137" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000366366" "00365138" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000366367" "00365139" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000366368" "00365140" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000366369" "00365141" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000366370" "00365142" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000366371" "00365143" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000366372" "00365144" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000366373" "00365145" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000366374" "00365146" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000366375" "00365147" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000366376" "00365148" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000366377" "00365149" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000366378" "00365150" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000366379" "00365151" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000366380" "00365152" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000366381" "00365153" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000366382" "00365154" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000366383" "00365155" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000366384" "00365156" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000366385" "00365157" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000366386" "00365158" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000366387" "00365159" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000366388" "00365160" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000366389" "00365161" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000366390" "00365162" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000366391" "00365163" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "WES"
"0000366392" "00365164" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "WES"
"0000366393" "00365165" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "WES"
"0000366394" "00365166" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000366395" "00365167" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000366396" "00365168" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000366397" "00365169" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000366398" "00365170" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000366399" "00365171" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000366400" "00365172" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000366401" "00365173" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000366402" "00365174" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000366403" "00365175" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000366404" "00365176" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000366405" "00365177" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000366406" "00365178" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000366407" "00365179" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000366408" "00365180" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000366409" "00365181" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000366410" "00365182" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000366411" "00365183" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000366412" "00365184" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000366413" "00365185" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000366414" "00365186" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000366415" "00365187" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000366416" "00365188" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000366417" "00365189" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000366418" "00365190" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000366419" "00365191" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000366420" "00365192" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000366421" "00365193" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000366422" "00365194" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000366423" "00365195" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000366424" "00365196" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000366425" "00365197" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000366426" "00365198" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000366427" "00365199" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366428" "00365200" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366429" "00365201" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366430" "00365202" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366431" "00365203" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366432" "00365204" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366433" "00365205" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366434" "00365206" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366435" "00365207" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366436" "00365208" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366437" "00365209" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366438" "00365210" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366439" "00365211" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366440" "00365212" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366441" "00365213" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366442" "00365214" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366443" "00365215" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366444" "00365216" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366445" "00365217" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366446" "00365218" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366447" "00365219" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366448" "00365220" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366449" "00365221" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366450" "00365222" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366451" "00365223" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366452" "00365224" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366453" "00365225" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366454" "00365226" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366455" "00365227" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366456" "00365228" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366457" "00365229" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366458" "00365230" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366459" "00365231" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366460" "00365232" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366461" "00365233" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366462" "00365234" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366463" "00365235" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366464" "00365236" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000366465" "00365237" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000366466" "00365238" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000366467" "00365239" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000366468" "00365240" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000366469" "00365241" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000366470" "00365242" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000366471" "00365243" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000366472" "00365244" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000366473" "00365245" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000366474" "00365246" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000366475" "00365247" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000366476" "00365248" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000366477" "00365249" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000366478" "00365250" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000366479" "00365251" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000366480" "00365252" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000366481" "00365253" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000366482" "00365254" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000366483" "00365255" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000366484" "00365256" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000366485" "00365257" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000366486" "00365258" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000366487" "00365259" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000366488" "00365260" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000366489" "00365261" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000366490" "00365262" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000366491" "00365263" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "WES"
"0000366492" "00365264" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "WES"
"0000366493" "00365265" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "WES"
"0000366494" "00365266" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366495" "00365267" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366496" "00365268" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366497" "00365269" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366498" "00365270" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366499" "00365271" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366500" "00365272" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366501" "00365273" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366502" "00365274" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366503" "00365275" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366504" "00365276" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366505" "00365277" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366506" "00365278" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366507" "00365279" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366508" "00365280" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366509" "00365281" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366510" "00365282" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366511" "00365283" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366512" "00365284" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366513" "00365285" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366514" "00365286" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366515" "00365287" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366516" "00365288" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366517" "00365289" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366518" "00365290" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366519" "00365291" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366520" "00365292" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366521" "00365293" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366522" "00365294" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366523" "00365295" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366524" "00365296" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366525" "00365297" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366526" "00365298" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366527" "00365299" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366528" "00365300" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366529" "00365301" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366530" "00365302" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366531" "00365303" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366532" "00365304" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366533" "00365305" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366534" "00365306" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366535" "00365307" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366536" "00365308" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366537" "00365309" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366538" "00365310" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366539" "00365311" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366540" "00365312" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366541" "00365313" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366542" "00365314" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366543" "00365315" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366544" "00365316" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366545" "00365317" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366546" "00365318" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366547" "00365319" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366548" "00365320" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366549" "00365321" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366550" "00365322" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366551" "00365323" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366552" "00365324" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366553" "00365325" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366554" "00365326" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366555" "00365327" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366556" "00365328" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366557" "00365329" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366558" "00365330" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366559" "00365331" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366560" "00365332" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366561" "00365333" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366562" "00365334" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366563" "00365335" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366564" "00365336" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366565" "00365337" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366566" "00365338" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366567" "00365339" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366568" "00365340" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366569" "00365341" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366570" "00365342" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366571" "00365343" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366572" "00365344" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366573" "00365345" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366574" "00365346" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366575" "00365347" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366576" "00365348" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366577" "00365349" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366578" "00365350" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366579" "00365351" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366580" "00365352" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366581" "00365353" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366582" "00365354" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366583" "00365355" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366584" "00365356" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366585" "00365357" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366586" "00365358" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366587" "00365359" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366588" "00365360" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366589" "00365361" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366590" "00365362" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366591" "00365363" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366592" "00365364" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366593" "00365365" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366594" "00365366" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366595" "00365367" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366596" "00365368" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366597" "00365369" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366598" "00365370" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366599" "00365371" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366600" "00365372" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366601" "00365373" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366602" "00365374" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366603" "00365375" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366604" "00365376" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366605" "00365377" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366606" "00365378" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366607" "00365379" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366608" "00365380" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366609" "00365381" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366610" "00365382" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366611" "00365383" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366612" "00365384" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366613" "00365385" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366614" "00365386" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366615" "00365387" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366616" "00365388" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366617" "00365389" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366618" "00365390" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366619" "00365391" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366620" "00365392" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366621" "00365393" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366622" "00365394" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366623" "00365395" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366624" "00365396" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366625" "00365397" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366626" "00365398" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366627" "00365399" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366628" "00365400" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366629" "00365401" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366630" "00365402" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366631" "00365403" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366632" "00365404" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366633" "00365405" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366634" "00365406" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366635" "00365407" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366636" "00365408" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366637" "00365409" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366638" "00365410" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366639" "00365411" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366640" "00365412" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366641" "00365413" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366642" "00365414" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366643" "00365415" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366644" "00365416" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366645" "00365417" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366646" "00365418" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366647" "00365419" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366648" "00365420" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366649" "00365421" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366650" "00365422" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366651" "00365423" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366652" "00365424" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366653" "00365425" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366654" "00365426" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366655" "00365427" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366656" "00365428" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366657" "00365429" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366658" "00365430" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366659" "00365431" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366660" "00365432" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366661" "00365433" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366662" "00365434" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366663" "00365435" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366664" "00365436" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366665" "00365437" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366666" "00365438" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366667" "00365439" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366668" "00365440" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366669" "00365441" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366670" "00365442" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366671" "00365443" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366672" "00365444" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366673" "00365445" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366674" "00365446" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366675" "00365447" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366676" "00365448" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366677" "00365449" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366678" "00365450" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366679" "00365451" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366680" "00365452" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366681" "00365453" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366682" "00365454" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366683" "00365455" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366684" "00365456" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366685" "00365457" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366686" "00365458" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366687" "00365459" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366688" "00365460" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366689" "00365461" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366690" "00365462" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366691" "00365463" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "RetChip"
"0000366692" "00365464" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366693" "00365465" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366694" "00365466" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366695" "00365467" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366696" "00365468" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366697" "00365469" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366698" "00365470" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366699" "00365471" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366700" "00365472" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366701" "00365473" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366702" "00365474" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366703" "00365475" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366704" "00365476" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366705" "00365477" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366706" "00365478" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000366707" "00365479" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000366708" "00365480" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000366709" "00365481" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000366710" "00365482" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000366711" "00365483" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000366712" "00365484" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000366713" "00365485" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000366714" "00365486" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000366715" "00365487" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000366716" "00365488" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000366717" "00365489" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000366718" "00365490" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000366719" "00365491" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000366720" "00365492" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000366721" "00365493" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000366722" "00365494" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000366723" "00365495" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000366724" "00365496" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000366725" "00365497" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000366726" "00365498" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000366727" "00365499" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000366728" "00365500" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000366729" "00365501" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000366730" "00365502" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000366731" "00365503" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000366732" "00365504" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000366733" "00365505" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000366734" "00365506" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000366735" "00365507" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366736" "00365508" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366737" "00365509" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366738" "00365510" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366739" "00365511" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366740" "00365512" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366741" "00365513" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366742" "00365514" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366743" "00365515" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366744" "00365516" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366745" "00365517" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366746" "00365518" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366747" "00365519" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366748" "00365520" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366749" "00365521" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366750" "00365522" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366751" "00365523" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366752" "00365524" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366753" "00365525" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366754" "00365526" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366755" "00365527" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366756" "00365528" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366757" "00365529" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366758" "00365530" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366759" "00365531" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366760" "00365532" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366761" "00365533" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366762" "00365534" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366763" "00365535" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366764" "00365536" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366765" "00365537" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366766" "00365538" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366767" "00365539" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366768" "00365540" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366769" "00365541" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366770" "00365542" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366771" "00365543" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366772" "00365544" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366773" "00365545" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366774" "00365546" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366775" "00365547" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366776" "00365548" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366777" "00365549" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366778" "00365550" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366779" "00365551" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366780" "00365552" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366781" "00365553" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366782" "00365554" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366783" "00365555" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366784" "00365556" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366785" "00365557" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366786" "00365558" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366787" "00365559" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366788" "00365560" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366789" "00365561" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366790" "00365562" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366791" "00365563" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366792" "00365564" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366793" "00365565" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366794" "00365566" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366795" "00365567" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366796" "00365568" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366797" "00365569" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366798" "00365570" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366799" "00365571" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366800" "00365572" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366801" "00365573" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366802" "00365574" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366803" "00365575" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366804" "00365576" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366805" "00365577" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366806" "00365578" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366807" "00365579" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366808" "00365580" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366809" "00365581" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366810" "00365582" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366811" "00365583" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366812" "00365584" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366813" "00365585" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366814" "00365586" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000366815" "00365587" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000366816" "00365588" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000366817" "00365589" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000366818" "00365590" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000366819" "00365591" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000366820" "00365592" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000366821" "00365593" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000366822" "00365594" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000366823" "00365595" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000366824" "00365596" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000366825" "00365597" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000366826" "00365598" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000366827" "00365599" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000366828" "00365600" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000366829" "00365601" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000366830" "00365602" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000366831" "00365603" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000366832" "00365604" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000366833" "00365605" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000366834" "00365606" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000366835" "00365607" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000366836" "00365608" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000366837" "00365609" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000366838" "00365610" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000366839" "00365611" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000366840" "00365612" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000366841" "00365613" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000366842" "00365614" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000366843" "00365615" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000366844" "00365616" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000366845" "00365617" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000366846" "00365618" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000366847" "00365619" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000366848" "00365620" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000366849" "00365621" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000366850" "00365622" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000366851" "00365623" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000366852" "00365624" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000366853" "00365625" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000366854" "00365626" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000366855" "00365627" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000366856" "00365628" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000366857" "00365629" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000366858" "00365630" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000366859" "00365631" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000366860" "00365632" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000366861" "00365633" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000366862" "00365634" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000366863" "00365635" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000366864" "00365636" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000366865" "00365637" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000366866" "00365638" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000366867" "00365639" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366868" "00365640" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366869" "00365641" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366870" "00365642" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366871" "00365643" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366872" "00365644" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366873" "00365645" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366874" "00365646" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366875" "00365647" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366876" "00365648" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366877" "00365649" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366878" "00365650" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366879" "00365651" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366880" "00365652" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366881" "00365653" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366882" "00365654" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366883" "00365655" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366884" "00365656" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366885" "00365657" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366886" "00365658" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366887" "00365659" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366888" "00365660" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366889" "00365661" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366890" "00365662" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366891" "00365663" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366892" "00365664" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366893" "00365665" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366894" "00365666" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366895" "00365667" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366896" "00365668" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366897" "00365669" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366898" "00365670" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366899" "00365671" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366900" "00365672" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366901" "00365673" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366902" "00365674" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366903" "00365675" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366904" "00365676" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366905" "00365677" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366906" "00365678" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366907" "00365679" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366908" "00365680" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366909" "00365681" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366910" "00365682" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366911" "00365683" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366912" "00365684" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366913" "00365685" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366914" "00365686" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366915" "00365687" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366916" "00365688" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366917" "00365689" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366918" "00365690" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366919" "00365691" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366920" "00365692" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366921" "00365693" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366922" "00365694" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366923" "00365695" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366924" "00365696" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366925" "00365697" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366926" "00365698" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366927" "00365699" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366928" "00365700" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366929" "00365701" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366930" "00365702" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366931" "00365703" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366932" "00365704" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366933" "00365705" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366934" "00365706" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366935" "00365707" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366936" "00365708" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366937" "00365709" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366938" "00365710" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366939" "00365711" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366940" "00365712" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366941" "00365713" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366942" "00365714" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366943" "00365715" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366944" "00365716" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366945" "00365717" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366946" "00365718" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366947" "00365719" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366948" "00365720" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366949" "00365721" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366950" "00365722" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366951" "00365723" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366952" "00365724" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366953" "00365725" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366954" "00365726" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366955" "00365727" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366956" "00365728" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366957" "00365729" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366958" "00365730" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366959" "00365731" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366960" "00365732" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366961" "00365733" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366962" "00365734" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366963" "00365735" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366964" "00365736" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366965" "00365737" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366966" "00365738" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366967" "00365739" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366968" "00365740" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366969" "00365741" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366970" "00365742" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366971" "00365743" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366972" "00365744" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366973" "00365745" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366974" "00365746" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366975" "00365747" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366976" "00365748" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366977" "00365749" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366978" "00365750" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366979" "00365751" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366980" "00365752" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366981" "00365753" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366982" "00365754" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366983" "00365755" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366984" "00365756" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366985" "00365757" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366986" "00365758" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366987" "00365759" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366988" "00365760" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366989" "00365761" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366990" "00365762" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366991" "00365763" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366992" "00365764" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366993" "00365765" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366994" "00365766" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366995" "00365767" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366996" "00365768" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366997" "00365769" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366998" "00365770" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000366999" "00365771" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367000" "00365772" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367001" "00365773" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367002" "00365774" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367003" "00365775" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367004" "00365776" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367005" "00365777" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367006" "00365778" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367007" "00365779" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367008" "00365780" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367009" "00365781" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367010" "00365782" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367011" "00365783" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367012" "00365784" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367013" "00365785" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367014" "00365786" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367015" "00365787" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367016" "00365788" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367017" "00365789" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367018" "00365790" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367019" "00365791" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367020" "00365792" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367021" "00365793" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367022" "00365794" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367023" "00365795" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367024" "00365796" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367025" "00365797" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367026" "00365798" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367027" "00365799" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367028" "00365800" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367029" "00365801" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367030" "00365802" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367031" "00365803" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367032" "00365804" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367033" "00365805" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367034" "00365806" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367035" "00365807" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367036" "00365808" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367037" "00365809" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367038" "00365810" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367039" "00365811" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367040" "00365812" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367041" "00365813" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367042" "00365814" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367043" "00365815" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367044" "00365816" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367045" "00365817" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367046" "00365818" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367047" "00365819" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367048" "00365820" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367049" "00365821" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367050" "00365822" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367051" "00365823" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367052" "00365824" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367053" "00365825" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367054" "00365826" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367055" "00365827" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367056" "00365828" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367057" "00365829" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367058" "00365830" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367059" "00365831" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367060" "00365832" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367061" "00365833" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367062" "00365834" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367063" "00365835" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367064" "00365836" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367065" "00365837" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367066" "00365838" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367067" "00365839" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367068" "00365840" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367069" "00365841" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367070" "00365842" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367071" "00365843" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367072" "00365844" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367073" "00365845" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367074" "00365846" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367075" "00365847" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367076" "00365848" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367077" "00365849" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367078" "00365850" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367079" "00365851" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367080" "00365852" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367081" "00365853" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367082" "00365854" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367083" "00365855" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367084" "00365856" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367085" "00365857" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367086" "00365858" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367087" "00365859" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367088" "00365860" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367089" "00365861" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367090" "00365862" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367091" "00365863" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367092" "00365864" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367093" "00365865" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367094" "00365866" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367095" "00365867" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367096" "00365868" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367097" "00365869" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367098" "00365870" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367099" "00365871" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367100" "00365872" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367101" "00365873" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367102" "00365874" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367103" "00365875" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367104" "00365876" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367105" "00365877" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367106" "00365878" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367107" "00365879" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367108" "00365880" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367109" "00365881" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367110" "00365882" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367111" "00365883" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367112" "00365884" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367113" "00365885" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367114" "00365886" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367115" "00365887" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367116" "00365888" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367117" "00365889" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367118" "00365890" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367119" "00365891" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367120" "00365892" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367121" "00365893" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367122" "00365894" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367123" "00365895" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367124" "00365896" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367125" "00365897" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367126" "00365898" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367127" "00365899" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367128" "00365900" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367129" "00365901" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367130" "00365902" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367131" "00365903" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367132" "00365904" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367133" "00365905" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367134" "00365906" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367135" "00365907" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367136" "00365908" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367137" "00365909" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367138" "00365910" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367139" "00365911" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367140" "00365912" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367141" "00365913" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367142" "00365914" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367143" "00365915" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367144" "00365916" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367145" "00365917" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367146" "00365918" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367147" "00365919" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367148" "00365920" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367149" "00365921" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367150" "00365922" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367151" "00365923" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367152" "00365924" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367153" "00365925" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367154" "00365926" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367155" "00365927" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367156" "00365928" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367157" "00365929" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367158" "00365930" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367159" "00365931" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367160" "00365932" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367161" "00365933" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367162" "00365934" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367163" "00365935" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367164" "00365936" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367165" "00365937" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367166" "00365938" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367167" "00365939" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367168" "00365940" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367169" "00365941" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367170" "00365942" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367171" "00365943" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367172" "00365944" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367173" "00365945" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367174" "00365946" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367175" "00365947" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367176" "00365948" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367177" "00365949" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367178" "00365950" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367179" "00365951" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367180" "00365952" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367181" "00365953" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367182" "00365954" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367183" "00365955" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367184" "00365956" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367185" "00365957" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367186" "00365958" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367187" "00365959" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367188" "00365960" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367189" "00365961" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367190" "00365962" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367191" "00365963" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367192" "00365964" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367193" "00365965" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367194" "00365966" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367195" "00365967" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367196" "00365968" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367197" "00365969" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367198" "00365970" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367199" "00365971" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367200" "00365972" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367201" "00365973" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367202" "00365974" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367203" "00365975" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367204" "00365976" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367205" "00365977" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367206" "00365978" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367207" "00365979" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367208" "00365980" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367209" "00365981" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367210" "00365982" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367211" "00365983" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367212" "00365984" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367213" "00365985" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367214" "00365986" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367215" "00365987" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367216" "00365988" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367217" "00365989" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367218" "00365990" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367219" "00365991" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367220" "00365992" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367221" "00365993" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367222" "00365994" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367223" "00365995" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367224" "00365996" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367225" "00365997" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367226" "00365998" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367227" "00365999" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367228" "00366000" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367229" "00366001" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367230" "00366002" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367231" "00366003" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367232" "00366004" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367233" "00366005" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367234" "00366006" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367235" "00366007" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367236" "00366008" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367237" "00366009" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367238" "00366010" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367239" "00366011" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367240" "00366012" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367241" "00366013" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367242" "00366014" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367243" "00366015" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367244" "00366016" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367245" "00366017" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367246" "00366018" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367247" "00366019" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367248" "00366020" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367249" "00366021" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367250" "00366022" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367251" "00366023" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367252" "00366024" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367253" "00366025" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367254" "00366026" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367255" "00366027" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367256" "00366028" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367257" "00366029" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367258" "00366030" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367259" "00366031" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367260" "00366032" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367261" "00366033" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367262" "00366034" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367263" "00366035" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367264" "00366036" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367265" "00366037" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367266" "00366038" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367267" "00366039" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367268" "00366040" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367269" "00366041" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367270" "00366042" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367271" "00366043" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367272" "00366044" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367273" "00366045" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367274" "00366046" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367275" "00366047" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367276" "00366048" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367277" "00366049" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367278" "00366050" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367279" "00366051" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367280" "00366052" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367281" "00366053" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367282" "00366054" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367283" "00366055" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367284" "00366056" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367285" "00366057" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367286" "00366058" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367287" "00366059" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367288" "00366060" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367289" "00366061" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367290" "00366062" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367291" "00366063" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367292" "00366064" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367293" "00366065" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367294" "00366066" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367295" "00366067" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367296" "00366068" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367297" "00366069" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367298" "00366070" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367299" "00366071" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367300" "00366072" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367301" "00366073" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367302" "00366074" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367303" "00366075" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367304" "00366076" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367305" "00366077" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367306" "00366078" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367307" "00366079" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367308" "00366080" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367309" "00366081" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367310" "00366082" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367311" "00366083" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367312" "00366084" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367313" "00366085" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367314" "00366086" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367315" "00366087" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367316" "00366088" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367317" "00366089" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367318" "00366090" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367319" "00366091" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367320" "00366092" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367321" "00366093" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367322" "00366094" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367323" "00366095" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367324" "00366096" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367325" "00366097" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367326" "00366098" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367327" "00366099" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367328" "00366100" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367329" "00366101" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367330" "00366102" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367331" "00366103" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367332" "00366104" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367333" "00366105" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367334" "00366106" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367335" "00366107" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367336" "00366108" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367337" "00366109" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367338" "00366110" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367339" "00366111" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367340" "00366112" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367341" "00366113" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367342" "00366114" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367343" "00366115" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367344" "00366116" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367345" "00366117" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367346" "00366118" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367347" "00366119" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367348" "00366120" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367349" "00366121" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367350" "00366122" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367351" "00366123" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367352" "00366124" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367353" "00366125" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367354" "00366126" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367355" "00366127" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367356" "00366128" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367357" "00366129" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367358" "00366130" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367359" "00366131" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367360" "00366132" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367361" "00366133" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367362" "00366134" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367363" "00366135" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367364" "00366136" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367365" "00366137" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367366" "00366138" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367367" "00366139" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367368" "00366140" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367369" "00366141" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367370" "00366142" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367371" "00366143" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367372" "00366144" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367373" "00366145" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367374" "00366146" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367375" "00366147" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367376" "00366148" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367377" "00366149" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367378" "00366150" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367379" "00366151" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367380" "00366152" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367381" "00366153" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367382" "00366154" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367383" "00366155" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367384" "00366156" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367385" "00366157" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367386" "00366158" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367387" "00366159" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367388" "00366160" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367389" "00366161" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367390" "00366162" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367391" "00366163" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367392" "00366164" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367393" "00366165" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367394" "00366166" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367395" "00366167" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367396" "00366168" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367397" "00366169" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367398" "00366170" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367399" "00366171" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367400" "00366172" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367401" "00366173" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367402" "00366174" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367403" "00366175" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367404" "00366176" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367405" "00366177" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367406" "00366178" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367407" "00366179" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367408" "00366180" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367409" "00366181" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367410" "00366182" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367411" "00366183" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367412" "00366184" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367413" "00366185" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367414" "00366186" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367415" "00366187" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367416" "00366188" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367417" "00366189" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367418" "00366190" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367419" "00366191" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367420" "00366192" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367421" "00366193" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367422" "00366194" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367423" "00366195" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367424" "00366196" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367425" "00366197" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367426" "00366198" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367427" "00366199" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367428" "00366200" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367429" "00366201" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367430" "00366202" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367431" "00366203" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367432" "00366204" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367433" "00366205" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367434" "00366206" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367435" "00366207" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367436" "00366208" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367437" "00366209" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367438" "00366210" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367439" "00366211" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367440" "00366212" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367441" "00366213" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367442" "00366214" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367443" "00366215" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367444" "00366216" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367445" "00366217" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367446" "00366218" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367447" "00366219" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367448" "00366220" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367449" "00366221" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367450" "00366222" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367451" "00366223" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367452" "00366224" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367453" "00366225" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367454" "00366226" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367455" "00366227" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367456" "00366228" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367457" "00366229" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367458" "00366230" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367459" "00366231" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367460" "00366232" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367461" "00366233" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367462" "00366234" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367463" "00366235" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367464" "00366236" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367465" "00366237" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367466" "00366238" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367467" "00366239" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367468" "00366240" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367469" "00366241" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367470" "00366242" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367471" "00366243" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367472" "00366244" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367473" "00366245" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367474" "00366246" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367475" "00366247" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367476" "00366248" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367477" "00366249" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367478" "00366250" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367479" "00366251" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367480" "00366252" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367481" "00366253" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367482" "00366254" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367483" "00366255" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367484" "00366256" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367485" "00366257" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367486" "00366258" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367487" "00366259" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367488" "00366260" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367489" "00366261" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367490" "00366262" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367491" "00366263" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367492" "00366264" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367493" "00366265" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367494" "00366266" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367495" "00366267" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367496" "00366268" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367497" "00366269" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367498" "00366270" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367499" "00366271" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367500" "00366272" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367501" "00366273" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367502" "00366274" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367503" "00366275" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000367504" "00366276" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000367505" "00366277" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000367506" "00366278" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000367507" "00366279" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000367508" "00366280" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367509" "00366281" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000367510" "00366282" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE" "DNA" "" "APEX"
"0000367511" "00366283" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE" "DNA" "" "APEX"
"0000367512" "00366284" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367513" "00366285" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367514" "00366286" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367515" "00366287" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367516" "00366288" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367517" "00366289" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367518" "00366290" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367519" "00366291" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367520" "00366292" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367521" "00366293" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367522" "00366294" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367523" "00366295" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367524" "00366296" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367525" "00366297" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367526" "00366298" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367527" "00366299" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367528" "00366300" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367529" "00366301" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367530" "00366302" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367531" "00366303" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367532" "00366304" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367533" "00366305" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367534" "00366306" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367535" "00366307" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367536" "00366308" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367537" "00366309" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367538" "00366310" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367539" "00366311" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367540" "00366312" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367541" "00366313" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367542" "00366314" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367543" "00366315" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367544" "00366316" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "MLPA;SEQ" "DNA" "" ""
"0000367545" "00366317" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "MLPA;SEQ" "DNA" "" ""
"0000367546" "00366318" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "MLPA;SEQ" "DNA" "" ""
"0000367547" "00366319" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "MLPA;SEQ" "DNA" "" ""
"0000367548" "00366320" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "MLPA;SEQ" "DNA" "" ""
"0000367549" "00366321" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "MLPA;SEQ" "DNA" "" ""
"0000367550" "00366322" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "MLPA;SEQ" "DNA" "" ""
"0000367551" "00366323" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "MLPA;SEQ" "DNA" "" ""
"0000367552" "00366324" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "MLPA;SEQ" "DNA" "" ""
"0000367553" "00366325" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "MLPA;SEQ" "DNA" "" ""
"0000367554" "00366326" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "MLPA;SEQ" "DNA" "" ""
"0000367555" "00366327" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "MLPA;SEQ" "DNA" "" ""
"0000367556" "00366328" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "MLPA;SEQ" "DNA" "" ""
"0000367557" "00366329" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "MLPA;SEQ" "DNA" "" ""
"0000367558" "00366330" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "MLPA;SEQ" "DNA" "" ""
"0000367559" "00366331" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "MLPA;SEQ" "DNA" "" ""
"0000367560" "00366332" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "MLPA;SEQ" "DNA" "" ""
"0000367561" "00366333" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "MLPA;SEQ" "DNA" "" ""
"0000367562" "00366334" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "MLPA;SEQ" "DNA" "" ""
"0000367563" "00366335" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "MLPA;SEQ" "DNA" "" ""
"0000367564" "00366336" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "MLPA;SEQ" "DNA" "" ""
"0000367565" "00366337" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "MLPA;SEQ" "DNA" "" ""
"0000367566" "00366338" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "MLPA;SEQ" "DNA" "" ""
"0000367567" "00366339" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "MLPA;SEQ" "DNA" "" ""
"0000367568" "00366340" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "MLPA;SEQ" "DNA" "" ""
"0000367569" "00366341" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "MLPA;SEQ" "DNA" "" ""
"0000367570" "00366342" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "MLPA;SEQ" "DNA" "" ""
"0000367571" "00366343" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367572" "00366344" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367573" "00366345" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367574" "00366346" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367575" "00366347" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367576" "00366348" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367577" "00366349" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367578" "00366350" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367579" "00366351" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367580" "00366352" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367581" "00366353" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367582" "00366354" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367583" "00366355" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367584" "00366356" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367585" "00366357" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367586" "00366358" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367587" "00366359" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367588" "00366360" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367589" "00366361" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367590" "00366362" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367591" "00366363" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367592" "00366364" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367593" "00366365" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367594" "00366366" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367595" "00366367" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367596" "00366368" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367597" "00366369" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367598" "00366370" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367599" "00366371" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000367600" "00366372" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000367601" "00366373" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000367602" "00366374" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000367603" "00366375" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000367604" "00366376" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000367605" "00366377" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000367606" "00366378" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000367607" "00366379" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000367608" "00366380" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000367609" "00366381" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367610" "00366382" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367611" "00366383" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367612" "00366384" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367613" "00366385" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367614" "00366386" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367615" "00366387" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367616" "00366388" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367617" "00366389" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367618" "00366390" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367619" "00366391" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367620" "00366392" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367621" "00366393" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367622" "00366394" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367623" "00366395" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367624" "00366396" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367625" "00366397" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367626" "00366398" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367627" "00366399" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367628" "00366400" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367629" "00366401" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367630" "00366402" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367631" "00366403" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367632" "00366404" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367633" "00366405" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367634" "00366406" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367635" "00366407" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367636" "00366408" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367637" "00366409" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367638" "00366410" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367639" "00366411" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367640" "00366412" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367641" "00366413" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367642" "00366414" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367643" "00366415" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367644" "00366416" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367645" "00366417" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000367646" "00366418" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000367647" "00366419" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000367648" "00366420" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000367649" "00366421" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000367650" "00366422" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000367651" "00366423" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000367652" "00366424" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000367653" "00366425" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000367654" "00366426" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000367655" "00366427" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000367656" "00366428" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000367657" "00366429" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000367658" "00366430" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000367659" "00366431" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000367660" "00366432" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000367661" "00366433" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000367662" "00366434" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000367663" "00366435" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000367664" "00366436" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000367665" "00366437" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000367666" "00366438" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000367667" "00366439" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000367668" "00366440" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000367669" "00366441" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000367670" "00366442" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000367671" "00366443" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000367672" "00366444" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000367673" "00366445" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000367674" "00366446" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000367675" "00366447" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000367676" "00366448" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000367677" "00366449" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000367678" "00366450" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "WES"
"0000367679" "00366451" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "WES"
"0000367680" "00366452" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "WES"
"0000367681" "00366453" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "WES"
"0000367682" "00366454" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "WES"
"0000367683" "00366455" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "WES"
"0000367684" "00366456" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "WES"
"0000367685" "00366457" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE" "DNA" "" "APEX"
"0000367686" "00366458" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE" "DNA" "" "APEX"
"0000367687" "00366459" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE" "DNA" "" "APEX"
"0000367688" "00366460" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE" "DNA" "" "APEX"
"0000367689" "00366461" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE" "DNA" "" "APEX"
"0000367690" "00366462" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE" "DNA" "" "APEX"
"0000367691" "00366463" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE" "DNA" "" "APEX"
"0000367692" "00366464" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE" "DNA" "" "APEX"
"0000367693" "00366465" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE" "DNA" "" "APEX"
"0000367694" "00366466" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE" "DNA" "" "APEX"
"0000367695" "00366467" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE" "DNA" "" "APEX"
"0000367696" "00366468" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE" "DNA" "" "APEX"
"0000367697" "00366469" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE" "DNA" "" "APEX"
"0000367698" "00366470" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE" "DNA" "" "APEX"
"0000367699" "00366471" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE" "DNA" "" "APEX"
"0000367700" "00366472" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE" "DNA" "" "APEX"
"0000367701" "00366473" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE" "DNA" "" "APEX"
"0000367702" "00366474" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE" "DNA" "" "APEX"
"0000367703" "00366475" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE" "DNA" "" "APEX"
"0000367704" "00366476" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE" "DNA" "" "APEX"
"0000367705" "00366477" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE" "DNA" "" "APEX"
"0000367706" "00366478" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE" "DNA" "" "APEX"
"0000367707" "00366479" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE" "DNA" "" "APEX"
"0000367708" "00366480" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE" "DNA" "" "APEX"
"0000367709" "00366481" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE" "DNA" "" "APEX"
"0000367710" "00366482" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE" "DNA" "" "APEX"
"0000367711" "00366483" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE" "DNA" "" "APEX"
"0000367712" "00366484" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE" "DNA" "" "APEX"
"0000367713" "00366485" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE" "DNA" "" "APEX"
"0000367714" "00366486" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE" "DNA" "" "APEX"
"0000367715" "00366487" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE" "DNA" "" "APEX"
"0000367716" "00366488" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE" "DNA" "" "APEX"
"0000367717" "00366489" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE" "DNA" "" "APEX"
"0000367718" "00366490" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE" "DNA" "" "APEX"
"0000367719" "00366491" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000367720" "00366492" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000367721" "00366493" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000367722" "00366494" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000367723" "00366495" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000367724" "00366496" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000367725" "00366497" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000367726" "00366498" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000367727" "00366499" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000367728" "00366500" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000367729" "00366501" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "WES"
"0000367730" "00366502" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "WES"
"0000367731" "00366503" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "WES"
"0000367732" "00366504" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000367733" "00366505" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000367734" "00366506" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000367735" "00366507" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000367736" "00366508" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000367737" "00366509" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000367738" "00366510" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000367739" "00366511" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000367740" "00366512" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000367741" "00366513" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000367742" "00366514" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000367743" "00366515" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000367744" "00366516" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000367745" "00366517" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000367746" "00366518" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000367747" "00366519" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000367759" "00366531" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "WES"
"0000367760" "00366532" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "WES"
"0000367761" "00366533" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "WES"
"0000367762" "00366534" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "WES"
"0000367763" "00366535" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "WES"
"0000367764" "00366536" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000367765" "00366537" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "MLPA;PE;SEQ" "DNA" "" "APEX"
"0000367766" "00366538" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000367767" "00366539" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000367768" "00366540" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000367769" "00366541" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000367770" "00366542" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000367771" "00366543" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000367772" "00366544" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000367773" "00366545" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000367774" "00366546" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000367775" "00366547" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000367776" "00366548" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000367777" "00366549" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000367778" "00366550" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000367779" "00366551" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000367780" "00366552" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000367781" "00366553" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000367782" "00366554" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000367783" "00366555" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000367784" "00366556" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000367785" "00366557" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000367786" "00366558" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000367787" "00366559" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000367788" "00366560" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000367789" "00366561" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000367790" "00366562" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000367791" "00366563" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000367792" "00366564" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000367793" "00366565" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000367794" "00366566" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000367795" "00366567" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000367796" "00366568" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000367797" "00366569" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000367798" "00366570" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000367799" "00366571" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000367800" "00366572" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000367801" "00366573" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367802" "00366574" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367803" "00366575" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367804" "00366576" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367805" "00366577" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367806" "00366578" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367807" "00366579" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367808" "00366580" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367809" "00366581" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367810" "00366582" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367811" "00366583" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367812" "00366584" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367813" "00366585" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367814" "00366586" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367815" "00366587" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367816" "00366588" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367817" "00366589" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367818" "00366590" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367819" "00366591" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367820" "00366592" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367821" "00366593" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367822" "00366594" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367823" "00366595" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367824" "00366596" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367825" "00366597" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367826" "00366598" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367827" "00366599" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367828" "00366600" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367829" "00366601" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367830" "00366602" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367831" "00366603" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367832" "00366604" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367833" "00366605" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367834" "00366606" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000367835" "00366607" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "MLPA;PE;SEQ" "DNA" "" "APEX"
"0000367836" "00366608" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "MLPA;PE;SEQ" "DNA" "" "APEX"
"0000367837" "00366609" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "MLPA;PE;SEQ" "DNA" "" "APEX"
"0000367838" "00366610" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "MLPA;PE;SEQ" "DNA" "" "APEX"
"0000367839" "00366611" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "MLPA;PE;SEQ" "DNA" "" "APEX"
"0000367840" "00366612" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "MLPA;PE;SEQ" "DNA" "" "APEX"
"0000367841" "00366613" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "MLPA;PE;SEQ" "DNA" "" "APEX"
"0000367842" "00366614" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "MLPA;PE;SEQ" "DNA" "" "APEX"
"0000367843" "00366615" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "MLPA;PE;SEQ" "DNA" "" "APEX"
"0000367844" "00366616" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "MLPA;PE;SEQ" "DNA" "" "APEX"
"0000367845" "00366617" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "MLPA;PE;SEQ" "DNA" "" "APEX"
"0000367846" "00366618" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "MLPA;PE;SEQ" "DNA" "" "APEX"
"0000367847" "00366619" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "MLPA;PE;SEQ" "DNA" "" "APEX"
"0000367848" "00366620" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "MLPA;PE;SEQ" "DNA" "" "APEX"
"0000367849" "00366621" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "MLPA;PE;SEQ" "DNA" "" "APEX"
"0000367850" "00366622" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "MLPA;PE;SEQ" "DNA" "" "APEX"
"0000367851" "00366623" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "MLPA;PE;SEQ" "DNA" "" "APEX"
"0000367852" "00366624" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "MLPA;PE;SEQ" "DNA" "" "APEX"
"0000367853" "00366625" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "MLPA;PE;SEQ" "DNA" "" "APEX"
"0000367854" "00366626" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "MLPA;PE;SEQ" "DNA" "" "APEX"
"0000367855" "00366627" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "MLPA;PE;SEQ" "DNA" "" "APEX"
"0000367856" "00366628" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "MLPA;PE;SEQ" "DNA" "" "APEX"
"0000367857" "00366629" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "MLPA;PE;SEQ" "DNA" "" "APEX"
"0000367858" "00366630" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "MLPA;PE;SEQ" "DNA" "" "APEX"
"0000367859" "00366631" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "MLPA;PE;SEQ" "DNA" "" "APEX"
"0000367860" "00366632" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "MLPA;PE;SEQ" "DNA" "" "APEX"
"0000367861" "00366633" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "MLPA;PE;SEQ" "DNA" "" "APEX"
"0000367862" "00366634" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "MLPA;PE;SEQ" "DNA" "" "APEX"
"0000367863" "00366635" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "MLPA;PE;SEQ" "DNA" "" "APEX"
"0000367864" "00366636" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "MLPA;PE;SEQ" "DNA" "" "APEX"
"0000367865" "00366637" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "MLPA;PE;SEQ" "DNA" "" "APEX"
"0000367866" "00366638" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "MLPA;PE;SEQ" "DNA" "" "APEX"
"0000367867" "00366639" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "MLPA;PE;SEQ" "DNA" "" "APEX"
"0000367868" "00366640" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "MLPA;PE;SEQ" "DNA" "" "APEX"
"0000367869" "00366641" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "MLPA;PE;SEQ" "DNA" "" "APEX"
"0000367870" "00366642" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "MLPA;PE;SEQ" "DNA" "" "APEX"
"0000367871" "00366643" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "MLPA;PE;SEQ" "DNA" "" "APEX"
"0000367872" "00366644" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "MLPA;PE;SEQ" "DNA" "" "APEX"
"0000367873" "00366645" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "MLPA;PE;SEQ" "DNA" "" "APEX"
"0000367874" "00366646" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "MLPA;PE;SEQ" "DNA" "" "APEX"
"0000367875" "00366647" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "MLPA;PE;SEQ" "DNA" "" "APEX"
"0000367876" "00366648" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "MLPA;PE;SEQ" "DNA" "" "APEX"
"0000367877" "00366649" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "MLPA;PE;SEQ" "DNA" "" "APEX"
"0000367878" "00366650" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "MLPA;PE;SEQ" "DNA" "" "APEX"
"0000367879" "00366651" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "MLPA;PE;SEQ" "DNA" "" "APEX"
"0000367880" "00366652" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "MLPA;PE;SEQ" "DNA" "" "APEX"
"0000367881" "00366653" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "MLPA;PE;SEQ" "DNA" "" "APEX"
"0000367882" "00366654" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "MLPA;PE;SEQ" "DNA" "" "APEX"
"0000367883" "00366655" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "MLPA;PE;SEQ" "DNA" "" "APEX"
"0000367884" "00366656" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "MLPA;PE;SEQ" "DNA" "" "APEX"
"0000367885" "00366657" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "MLPA;PE;SEQ" "DNA" "" "APEX"
"0000367886" "00366658" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "MLPA;PE;SEQ" "DNA" "" "APEX"
"0000367887" "00366659" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "MLPA;PE;SEQ" "DNA" "" "APEX"
"0000367888" "00366660" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000367889" "00366661" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000367890" "00366662" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000367891" "00366663" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000367892" "00366664" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000367893" "00366665" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000367894" "00366666" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000367895" "00366667" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000367896" "00366668" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000367897" "00366669" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000367898" "00366670" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000367899" "00366671" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000367900" "00366672" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000367901" "00366673" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000367902" "00366674" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000367903" "00366675" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000367904" "00366676" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000367905" "00366677" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000367906" "00366678" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000367907" "00366679" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000367908" "00366680" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000367909" "00366681" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000367910" "00366682" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000367911" "00366683" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000367912" "00366684" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000367913" "00366685" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000367914" "00366686" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000367915" "00366687" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000367916" "00366688" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000367917" "00366689" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000367918" "00366690" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000367919" "00366691" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000367920" "00366692" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000367921" "00366693" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000367922" "00366694" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000367923" "00366695" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000367924" "00366696" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000367925" "00366697" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000367926" "00366698" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000367927" "00366699" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000367928" "00366700" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000367929" "00366701" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000367930" "00366702" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000367931" "00366703" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000367932" "00366704" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000367933" "00366705" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000367934" "00366706" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000367935" "00366707" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000367936" "00366708" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000367937" "00366709" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000367938" "00366710" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000367939" "00366711" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000367940" "00366712" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000367941" "00366713" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000367942" "00366714" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000367943" "00366715" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000367944" "00366716" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000367945" "00366717" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000367946" "00366718" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000367947" "00366719" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000367948" "00366720" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000367949" "00366721" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000367950" "00366722" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000367951" "00366723" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000367952" "00366724" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000367953" "00366725" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000367954" "00366726" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000367955" "00366727" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000367956" "00366728" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000367957" "00366729" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000367958" "00366730" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000367959" "00366731" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000367960" "00366732" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000367961" "00366733" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000367962" "00366734" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000367963" "00366735" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000367964" "00366736" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000367965" "00366737" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000367966" "00366738" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000367967" "00366739" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000367968" "00366740" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000367969" "00366741" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000367970" "00366742" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000367971" "00366743" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000367972" "00366744" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000367973" "00366745" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000367974" "00366746" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000367975" "00366747" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000367976" "00366748" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000367977" "00366749" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000367978" "00366750" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000367979" "00366751" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000367980" "00366752" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000367981" "00366753" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000367982" "00366754" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000367983" "00366755" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000367984" "00366756" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000367985" "00366757" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000367986" "00366758" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000367987" "00366759" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000367988" "00366760" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000367989" "00366761" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000367990" "00366762" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000367991" "00366763" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000367992" "00366764" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000367993" "00366765" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000367994" "00366766" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000367995" "00366767" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000367996" "00366768" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000367997" "00366769" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000367998" "00366770" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000367999" "00366771" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368000" "00366772" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368001" "00366773" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368002" "00366774" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368003" "00366775" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368004" "00366776" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368005" "00366777" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368006" "00366778" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368007" "00366779" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368008" "00366780" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368009" "00366781" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368010" "00366782" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368011" "00366783" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368012" "00366784" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368013" "00366785" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368014" "00366786" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368015" "00366787" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368016" "00366788" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368017" "00366789" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368018" "00366790" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368019" "00366791" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368020" "00366792" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368021" "00366793" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368022" "00366794" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368023" "00366795" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368024" "00366796" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368025" "00366797" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368026" "00366798" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368027" "00366799" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368028" "00366800" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368029" "00366801" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368030" "00366802" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368031" "00366803" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368032" "00366804" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368033" "00366805" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368034" "00366806" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368035" "00366807" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368036" "00366808" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368037" "00366809" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368038" "00366810" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368039" "00366811" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368040" "00366812" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368041" "00366813" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368042" "00366814" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368043" "00366815" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368044" "00366816" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368045" "00366817" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368046" "00366818" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368047" "00366819" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368048" "00366820" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368049" "00366821" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368050" "00366822" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368051" "00366823" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368052" "00366824" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368053" "00366825" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368054" "00366826" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368055" "00366827" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368056" "00366828" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368057" "00366829" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368058" "00366830" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368059" "00366831" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368060" "00366832" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368061" "00366833" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368062" "00366834" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368063" "00366835" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368064" "00366836" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368065" "00366837" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368066" "00366838" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368067" "00366839" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368068" "00366840" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368069" "00366841" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368070" "00366842" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368071" "00366843" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368072" "00366844" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368073" "00366845" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368074" "00366846" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368075" "00366847" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368076" "00366848" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368077" "00366849" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368078" "00366850" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368079" "00366851" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368080" "00366852" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368081" "00366853" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368082" "00366854" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368083" "00366855" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368084" "00366856" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368085" "00366857" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368086" "00366858" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368087" "00366859" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368088" "00366860" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368089" "00366861" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368090" "00366862" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368091" "00366863" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368092" "00366864" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368093" "00366865" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368094" "00366866" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368095" "00366867" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368096" "00366868" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368097" "00366869" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368098" "00366870" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368099" "00366871" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368100" "00366872" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368101" "00366873" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368102" "00366874" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368103" "00366875" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368104" "00366876" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368105" "00366877" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368106" "00366878" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368107" "00366879" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368108" "00366880" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368109" "00366881" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368110" "00366882" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368111" "00366883" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368112" "00366884" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368113" "00366885" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368114" "00366886" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368115" "00366887" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368116" "00366888" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368117" "00366889" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368118" "00366890" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368119" "00366891" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368120" "00366892" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368121" "00366893" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368122" "00366894" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368123" "00366895" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368124" "00366896" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368125" "00366897" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368126" "00366898" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368127" "00366899" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368128" "00366900" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368129" "00366901" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368130" "00366902" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368131" "00366903" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368132" "00366904" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368133" "00366905" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368134" "00366906" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368135" "00366907" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368136" "00366908" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368137" "00366909" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368138" "00366910" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368139" "00366911" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368140" "00366912" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368141" "00366913" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368142" "00366914" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368143" "00366915" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368144" "00366916" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368145" "00366917" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368146" "00366918" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368147" "00366919" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368148" "00366920" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368149" "00366921" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368150" "00366922" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368151" "00366923" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368152" "00366924" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368153" "00366925" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368154" "00366926" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368155" "00366927" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368156" "00366928" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368157" "00366929" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368158" "00366930" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368159" "00366931" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368160" "00366932" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368161" "00366933" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368162" "00366934" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368163" "00366935" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368164" "00366936" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368165" "00366937" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368166" "00366938" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368167" "00366939" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368168" "00366940" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368169" "00366941" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368170" "00366942" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368171" "00366943" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368172" "00366944" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368173" "00366945" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368174" "00366946" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368175" "00366947" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368176" "00366948" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368177" "00366949" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368178" "00366950" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368179" "00366951" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368180" "00366952" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368181" "00366953" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368182" "00366954" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368183" "00366955" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368184" "00366956" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368185" "00366957" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368186" "00366958" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368187" "00366959" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368188" "00366960" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368189" "00366961" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368190" "00366962" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368191" "00366963" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368192" "00366964" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368193" "00366965" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368194" "00366966" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368195" "00366967" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368196" "00366968" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368197" "00366969" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368198" "00366970" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368199" "00366971" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368200" "00366972" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368201" "00366973" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368202" "00366974" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368203" "00366975" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368204" "00366976" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368205" "00366977" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368206" "00366978" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368207" "00366979" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368208" "00366980" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368209" "00366981" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368210" "00366982" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368211" "00366983" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368212" "00366984" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368213" "00366985" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368214" "00366986" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368215" "00366987" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368216" "00366988" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368217" "00366989" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368218" "00366990" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368219" "00366991" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368220" "00366992" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368221" "00366993" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368222" "00366994" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368223" "00366995" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368224" "00366996" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368225" "00366997" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368226" "00366998" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368227" "00366999" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368228" "00367000" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368229" "00367001" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368230" "00367002" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368231" "00367003" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "SEQ-NG (143 cases);APEX (44 cases);SSCP (24 cases);SEQ (134)"
"0000368232" "00367004" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PCRh;SEQ" "DNA" "" "Haloplex"
"0000368233" "00367005" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PCRh;SEQ" "DNA" "" "Haloplex"
"0000368234" "00367006" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PCRh;SEQ" "DNA" "" "Haloplex"
"0000368235" "00367007" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PCRh;SEQ" "DNA" "" "Haloplex"
"0000368236" "00367008" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PCRh;SEQ" "DNA" "" "Haloplex"
"0000368237" "00367009" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PCRh;SEQ" "DNA" "" "Haloplex"
"0000368238" "00367010" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PCRh;SEQ" "DNA" "" "Haloplex"
"0000368239" "00367011" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PCRh;SEQ" "DNA" "" "Haloplex"
"0000368240" "00367012" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PCRh;SEQ" "DNA" "" "Haloplex"
"0000368241" "00367013" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PCRh;SEQ" "DNA" "" "Haloplex"
"0000368242" "00367014" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PCRh;SEQ" "DNA" "" "Haloplex"
"0000368243" "00367015" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PCRh;SEQ" "DNA" "" "Haloplex"
"0000368244" "00367016" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PCRh;SEQ" "DNA" "" "Haloplex"
"0000368245" "00367017" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PCRh;SEQ" "DNA" "" "Haloplex"
"0000368246" "00367018" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PCRh;SEQ" "DNA" "" "Haloplex"
"0000368247" "00367019" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PCRh;SEQ" "DNA" "" "Haloplex"
"0000368248" "00367020" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PCRh;SEQ" "DNA" "" "Haloplex"
"0000368249" "00367021" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PCRh;SEQ" "DNA" "" "Haloplex"
"0000368250" "00367022" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PCRh;SEQ" "DNA" "" "Haloplex"
"0000368251" "00367023" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PCRh;SEQ" "DNA" "" "Haloplex"
"0000368252" "00367024" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PCRh;SEQ" "DNA" "" "Haloplex"
"0000368253" "00367025" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PCRh;SEQ" "DNA" "" "Haloplex"
"0000368254" "00367026" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "WES"
"0000368255" "00367027" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "WES"
"0000368256" "00367028" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "WES"
"0000368257" "00367029" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "WES"
"0000368258" "00367030" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "WES"
"0000368259" "00367031" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "WES"
"0000368260" "00367032" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "WES"
"0000368261" "00367033" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "WES"
"0000368262" "00367034" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "WES"
"0000368263" "00367035" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "WES"
"0000368264" "00367036" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "WES"
"0000368265" "00367037" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "WES"
"0000368266" "00367038" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "WES"
"0000368267" "00367039" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "WES"
"0000368268" "00367040" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "WES"
"0000368269" "00367041" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "WES"
"0000368270" "00367042" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "WES"
"0000368271" "00367043" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368272" "00367044" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368273" "00367045" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368274" "00367046" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368275" "00367047" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368276" "00367048" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368277" "00367049" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368278" "00367050" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368279" "00367051" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368280" "00367052" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368281" "00367053" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368282" "00367054" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000368283" "00367055" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000368284" "00367056" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000368285" "00367057" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000368286" "00367058" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000368287" "00367059" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000368288" "00367060" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000368289" "00367061" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000368290" "00367062" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000368291" "00367063" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000368292" "00367064" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000368293" "00367065" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000368294" "00367066" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000368295" "00367067" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000368296" "00367068" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000368297" "00367069" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000368298" "00367070" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000368299" "00367071" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000368300" "00367072" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000368301" "00367073" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000368302" "00367074" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000368303" "00367075" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000368304" "00367076" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000368305" "00367077" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000368306" "00367078" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000368307" "00367079" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000368308" "00367080" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000368309" "00367081" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000368310" "00367082" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000368311" "00367083" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000368312" "00367084" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000368313" "00367085" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000368314" "00367086" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000368315" "00367087" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000368316" "00367088" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000368317" "00367089" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000368318" "00367090" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000368319" "00367091" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000368320" "00367092" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000368321" "00367093" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000368322" "00367094" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000368323" "00367095" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000368324" "00367096" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000368325" "00367097" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000368326" "00367098" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000368327" "00367099" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000368328" "00367100" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000368329" "00367101" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000368330" "00367102" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000368331" "00367103" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000368332" "00367104" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000368333" "00367105" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000368334" "00367106" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000368335" "00367107" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000368336" "00367108" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000368337" "00367109" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000368338" "00367110" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000368339" "00367111" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000368340" "00367112" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000368341" "00367113" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000368342" "00367114" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000368343" "00367115" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000368344" "00367116" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000368345" "00367117" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000368346" "00367118" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000368347" "00367119" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000368348" "00367120" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000368349" "00367121" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000368350" "00367122" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000368351" "00367123" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368352" "00367124" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368353" "00367125" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368354" "00367126" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368355" "00367127" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368356" "00367128" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368357" "00367129" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368358" "00367130" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368359" "00367131" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368360" "00367132" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368361" "00367133" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368362" "00367134" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368363" "00367135" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368364" "00367136" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368365" "00367137" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368366" "00367138" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368367" "00367139" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368368" "00367140" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368369" "00367141" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368370" "00367142" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368371" "00367143" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368372" "00367144" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368373" "00367145" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368374" "00367146" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368375" "00367147" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368376" "00367148" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368377" "00367149" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368378" "00367150" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368379" "00367151" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368380" "00367152" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368381" "00367153" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368382" "00367154" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368383" "00367155" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368384" "00367156" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368385" "00367157" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368386" "00367158" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368387" "00367159" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368388" "00367160" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368389" "00367161" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368390" "00367162" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368391" "00367163" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368392" "00367164" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368393" "00367165" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368394" "00367166" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368395" "00367167" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368396" "00367168" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368397" "00367169" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368398" "00367170" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368399" "00367171" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368400" "00367172" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000368401" "00367173" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000368402" "00367174" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000368403" "00367175" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000368404" "00367176" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000368405" "00367177" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000368406" "00367178" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000368407" "00367179" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000368408" "00367180" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000368409" "00367181" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000368410" "00367182" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000368411" "00367183" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000368412" "00367184" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000368413" "00367185" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000368414" "00367186" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000368415" "00367187" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000368416" "00367188" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000368417" "00367189" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000368418" "00367190" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000368419" "00367191" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000368420" "00367192" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000368421" "00367193" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368422" "00367194" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "WES"
"0000368423" "00367195" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "WES"
"0000368424" "00367196" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000368425" "00367197" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368426" "00367198" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368427" "00367199" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368428" "00367200" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368429" "00367201" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368430" "00367202" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368431" "00367203" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368432" "00367204" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368433" "00367205" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368434" "00367206" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368435" "00367207" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368436" "00367208" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368437" "00367209" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368438" "00367210" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368439" "00367211" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368440" "00367212" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368441" "00367213" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368442" "00367214" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368443" "00367215" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368444" "00367216" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368445" "00367217" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368446" "00367218" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368447" "00367219" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368448" "00367220" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368449" "00367221" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368450" "00367222" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368451" "00367223" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368452" "00367224" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368453" "00367225" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368454" "00367226" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368455" "00367227" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368456" "00367228" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368457" "00367229" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368458" "00367230" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368459" "00367231" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368460" "00367232" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368461" "00367233" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368462" "00367234" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368463" "00367235" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368464" "00367236" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368465" "00367237" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368466" "00367238" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368467" "00367239" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368468" "00367240" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368469" "00367241" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368470" "00367242" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368471" "00367243" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368472" "00367244" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368473" "00367245" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368474" "00367246" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368475" "00367247" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368476" "00367248" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368477" "00367249" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368478" "00367250" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368479" "00367251" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368480" "00367252" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368481" "00367253" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368482" "00367254" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368483" "00367255" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368484" "00367256" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368485" "00367257" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368486" "00367258" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368487" "00367259" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368488" "00367260" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368489" "00367261" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368490" "00367262" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368491" "00367263" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368492" "00367264" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368493" "00367265" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368494" "00367266" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368495" "00367267" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368496" "00367268" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368497" "00367269" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368498" "00367270" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368499" "00367271" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368500" "00367272" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368501" "00367273" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368502" "00367274" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368503" "00367275" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368504" "00367276" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368505" "00367277" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368506" "00367278" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368507" "00367279" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368508" "00367280" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368509" "00367281" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368510" "00367282" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368511" "00367283" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368512" "00367284" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368513" "00367285" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368514" "00367286" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368515" "00367287" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000368516" "00367288" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000368517" "00367289" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000368518" "00367290" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000368519" "00367291" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368520" "00367292" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368521" "00367293" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368522" "00367294" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368523" "00367295" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "MIPsm;SEQ" "DNA" "" "exons"
"0000368524" "00367296" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "MIPsm;SEQ" "DNA" "" "exons"
"0000368525" "00367297" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "MIPsm;SEQ" "DNA" "" "exons"
"0000368526" "00367298" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "MIPsm;SEQ" "DNA" "" "exons"
"0000368527" "00367299" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "MIPsm;SEQ" "DNA" "" "exons"
"0000368528" "00367300" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "MIPsm;SEQ" "DNA" "" "exons"
"0000368529" "00367301" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000368530" "00367302" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000368531" "00367303" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000368532" "00367304" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000368533" "00367305" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000368534" "00367306" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000368535" "00367307" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000368536" "00367308" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000368537" "00367309" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000368538" "00367310" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000368539" "00367311" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000368540" "00367312" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000368541" "00367313" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000368542" "00367314" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000368543" "00367315" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000368544" "00367316" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000368545" "00367317" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000368546" "00367318" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000368547" "00367319" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000368548" "00367320" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000368549" "00367321" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000368550" "00367322" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000368551" "00367323" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000368552" "00367324" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000368553" "00367325" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000368554" "00367326" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000368555" "00367327" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000368556" "00367328" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000368557" "00367329" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000368558" "00367330" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000368559" "00367331" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000368560" "00367332" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000368561" "00367333" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000368562" "00367334" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000368563" "00367335" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000368564" "00367336" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000368565" "00367337" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000368566" "00367338" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000368567" "00367339" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000368568" "00367340" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000368569" "00367341" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000368570" "00367342" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000368571" "00367343" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000368572" "00367344" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000368573" "00367345" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000368574" "00367346" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000368575" "00367347" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000368576" "00367348" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000368577" "00367349" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000368578" "00367350" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000368579" "00367351" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000368580" "00367352" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000368581" "00367353" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000368582" "00367354" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000368583" "00367355" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000368584" "00367356" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000368585" "00367357" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000368586" "00367358" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000368587" "00367359" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000368588" "00367360" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000368589" "00367361" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000368590" "00367362" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000368591" "00367363" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000368592" "00367364" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000368593" "00367365" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000368594" "00367366" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000368595" "00367367" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000368596" "00367368" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000368597" "00367369" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000368598" "00367370" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000368599" "00367371" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000368600" "00367372" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000368601" "00367373" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000368602" "00367374" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000368603" "00367375" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000368604" "00367376" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368605" "00367377" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368606" "00367378" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368607" "00367379" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368608" "00367380" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368609" "00367381" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368610" "00367382" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368611" "00367383" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368612" "00367384" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000368613" "00367385" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG;MIPsm" "DNA" "" "smMIPs of exons and few intronic regions"
"0000368614" "00367386" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG;MIPsm" "DNA" "" "smMIPs of exons and few intronic regions"
"0000368615" "00367387" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG;MIPsm" "DNA" "" "smMIPs of exons and few intronic regions"
"0000368616" "00367388" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG;MIPsm" "DNA" "" "smMIPs of exons and few intronic regions"
"0000368617" "00367389" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG;MIPsm" "DNA" "" "smMIPs of exons and few intronic regions"
"0000368618" "00367390" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG;MIPsm" "DNA" "" "smMIPs of exons and few intronic regions"
"0000368619" "00367391" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG;MIPsm" "DNA" "" "smMIPs of exons and few intronic regions"
"0000368620" "00367392" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG;MIPsm" "DNA" "" "smMIPs of exons and few intronic regions"
"0000368621" "00367393" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG;MIPsm" "DNA" "" "smMIPs of exons and few intronic regions"
"0000368622" "00367394" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG;MIPsm" "DNA" "" "smMIPs of exons and few intronic regions"
"0000368623" "00367395" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG;MIPsm" "DNA" "" "smMIPs of exons and few intronic regions"
"0000368624" "00367396" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG;MIPsm" "DNA" "" "smMIPs of exons and few intronic regions"
"0000368625" "00367397" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG;MIPsm" "DNA" "" "smMIPs of exons and few intronic regions"
"0000368626" "00367398" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG;MIPsm" "DNA" "" "smMIPs of exons and few intronic regions"
"0000368627" "00367399" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG;MIPsm" "DNA" "" "smMIPs of exons and few intronic regions"
"0000368628" "00367400" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG;MIPsm" "DNA" "" "smMIPs of exons and few intronic regions"
"0000368629" "00367401" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG;MIPsm" "DNA" "" "smMIPs of exons and few intronic regions"
"0000368630" "00367402" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG;MIPsm" "DNA" "" "smMIPs of exons and few intronic regions"
"0000368631" "00367403" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG;MIPsm" "DNA" "" "smMIPs of exons and few intronic regions"
"0000368632" "00367404" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG;MIPsm" "DNA" "" "smMIPs of exons and few intronic regions"
"0000368633" "00367405" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG;MIPsm" "DNA" "" "smMIPs of exons and few intronic regions"
"0000368634" "00367406" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG;MIPsm" "DNA" "" "smMIPs of exons and few intronic regions"
"0000368635" "00367407" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG;MIPsm" "DNA" "" "smMIPs of exons and few intronic regions"
"0000368636" "00367408" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG;MIPsm" "DNA" "" "smMIPs of exons and few intronic regions"
"0000368637" "00367409" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG;MIPsm" "DNA" "" "smMIPs of exons and few intronic regions"
"0000368638" "00367410" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG;MIPsm" "DNA" "" "smMIPs of exons and few intronic regions"
"0000368639" "00367411" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG;MIPsm" "DNA" "" "smMIPs of exons and few intronic regions"
"0000368640" "00367412" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG;MIPsm" "DNA" "" "smMIPs of exons and few intronic regions"
"0000368641" "00367413" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG;MIPsm" "DNA" "" "smMIPs of exons and few intronic regions"
"0000368642" "00367414" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG;MIPsm" "DNA" "" "smMIPs of exons and few intronic regions"
"0000368643" "00367415" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG;MIPsm" "DNA" "" "smMIPs of exons and few intronic regions"
"0000368644" "00367416" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG;MIPsm" "DNA" "" "smMIPs of exons and few intronic regions"
"0000368645" "00367417" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG;MIPsm" "DNA" "" "smMIPs of exons and few intronic regions"
"0000368646" "00367418" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG;MIPsm" "DNA" "" "smMIPs of exons and few intronic regions"
"0000368647" "00367419" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG;MIPsm" "DNA" "" "smMIPs of exons and few intronic regions"
"0000368648" "00367420" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG;MIPsm" "DNA" "" "smMIPs of exons and few intronic regions"
"0000368649" "00367421" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG;MIPsm" "DNA" "" "smMIPs of exons and few intronic regions"
"0000368650" "00367422" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG;MIPsm" "DNA" "" "smMIPs of exons and few intronic regions"
"0000368651" "00367423" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG;MIPsm" "DNA" "" "smMIPs of exons and few intronic regions"
"0000368652" "00367424" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG;MIPsm" "DNA" "" "smMIPs of exons and few intronic regions"
"0000368653" "00367425" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG;MIPsm" "DNA" "" "smMIPs of exons and few intronic regions"
"0000368654" "00367426" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG;MIPsm" "DNA" "" "smMIPs of exons and few intronic regions"
"0000368655" "00367427" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG;MIPsm" "DNA" "" "smMIPs of exons and few intronic regions"
"0000368656" "00367428" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG;MIPsm" "DNA" "" "smMIPs of exons and few intronic regions"
"0000368657" "00367429" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG;MIPsm" "DNA" "" "smMIPs of exons and few intronic regions"
"0000368658" "00367430" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG;MIPsm" "DNA" "" "smMIPs of exons and few intronic regions"
"0000368659" "00367431" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG;MIPsm" "DNA" "" "smMIPs of exons and few intronic regions"
"0000368660" "00367432" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG;MIPsm" "DNA" "" "smMIPs of exons and few intronic regions"
"0000368661" "00367433" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG;MIPsm" "DNA" "" "smMIPs of exons and few intronic regions"
"0000368662" "00367434" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG;MIPsm" "DNA" "" "smMIPs of exons and few intronic regions"
"0000368663" "00367435" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG;MIPsm" "DNA" "" "smMIPs of exons and few intronic regions"
"0000368664" "00367436" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG;MIPsm" "DNA" "" "smMIPs of exons and few intronic regions"
"0000368665" "00367437" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG;MIPsm" "DNA" "" "smMIPs of exons and few intronic regions"
"0000368666" "00367438" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG;MIPsm" "DNA" "" "smMIPs of exons and few intronic regions"
"0000368667" "00367439" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG;MIPsm" "DNA" "" "smMIPs of exons and few intronic regions"
"0000368668" "00367440" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG;MIPsm" "DNA" "" "smMIPs of exons and few intronic regions"
"0000368669" "00367441" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG;MIPsm" "DNA" "" "smMIPs of exons and few intronic regions"
"0000368670" "00367442" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG;MIPsm" "DNA" "" "smMIPs of exons and few intronic regions"
"0000368671" "00367443" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG;MIPsm" "DNA" "" "smMIPs of exons and few intronic regions"
"0000368672" "00367444" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG;MIPsm" "DNA" "" "smMIPs of exons and few intronic regions"
"0000368673" "00367445" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG;MIPsm" "DNA" "" "smMIPs of exons and few intronic regions"
"0000368674" "00367446" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG;MIPsm" "DNA" "" "smMIPs of exons and few intronic regions"
"0000368675" "00367447" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG;MIPsm" "DNA" "" "smMIPs of exons and few intronic regions"
"0000368676" "00367448" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG;MIPsm" "DNA" "" "smMIPs of exons and few intronic regions"
"0000368677" "00367449" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG;MIPsm" "DNA" "" "smMIPs of exons and few intronic regions"
"0000368678" "00367450" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG;MIPsm" "DNA" "" "smMIPs of exons and few intronic regions"
"0000368679" "00367451" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG;MIPsm" "DNA" "" "smMIPs of exons and few intronic regions"
"0000368680" "00367452" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG;MIPsm" "DNA" "" "smMIPs of exons and few intronic regions"
"0000368681" "00367453" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG;MIPsm" "DNA" "" "smMIPs of exons and few intronic regions"
"0000368682" "00367454" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG;MIPsm" "DNA" "" "smMIPs of exons and few intronic regions"
"0000368683" "00367455" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG;MIPsm" "DNA" "" "smMIPs of exons and few intronic regions"
"0000368684" "00367456" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG;MIPsm" "DNA" "" "smMIPs of exons and few intronic regions"
"0000368685" "00367457" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG;MIPsm" "DNA" "" "smMIPs of exons and few intronic regions"
"0000368686" "00367458" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG;MIPsm" "DNA" "" "smMIPs of exons and few intronic regions"
"0000368687" "00367459" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG;MIPsm" "DNA" "" "smMIPs of exons and few intronic regions"
"0000368688" "00367460" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG;MIPsm" "DNA" "" "smMIPs of exons and few intronic regions"
"0000368689" "00367461" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG;MIPsm" "DNA" "" "smMIPs of exons and few intronic regions"
"0000368690" "00367462" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG;MIPsm" "DNA" "" "smMIPs of exons and few intronic regions"
"0000368691" "00367463" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG;MIPsm" "DNA" "" "smMIPs of exons and few intronic regions"
"0000368692" "00367464" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG;MIPsm" "DNA" "" "smMIPs of exons and few intronic regions"
"0000368693" "00367465" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG;MIPsm" "DNA" "" "smMIPs of exons and few intronic regions"
"0000368694" "00367466" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG;MIPsm" "DNA" "" "smMIPs of exons and few intronic regions"
"0000368695" "00367467" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG;MIPsm" "DNA" "" "smMIPs of exons and few intronic regions"
"0000368696" "00367468" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG;MIPsm" "DNA" "" "smMIPs of exons and few intronic regions"
"0000368697" "00367469" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG;MIPsm" "DNA" "" "smMIPs of exons and few intronic regions"
"0000368698" "00367470" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG;MIPsm" "DNA" "" "smMIPs of exons and few intronic regions"
"0000368699" "00367471" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG;MIPsm" "DNA" "" "smMIPs of exons and few intronic regions"
"0000368700" "00367472" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG;MIPsm" "DNA" "" "smMIPs of exons and few intronic regions"
"0000368701" "00367473" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG;MIPsm" "DNA" "" "smMIPs of exons and few intronic regions"
"0000368702" "00367474" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG;MIPsm" "DNA" "" "smMIPs of exons and few intronic regions"
"0000368703" "00367475" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG;MIPsm" "DNA" "" "smMIPs of exons and few intronic regions"
"0000368704" "00367476" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG;MIPsm" "DNA" "" "smMIPs of exons and few intronic regions"
"0000368705" "00367477" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG;MIPsm" "DNA" "" "smMIPs of exons and few intronic regions"
"0000368706" "00367478" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG;MIPsm" "DNA" "" "smMIPs of exons and few intronic regions"
"0000368707" "00367479" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG;MIPsm" "DNA" "" "smMIPs of exons and few intronic regions"
"0000368708" "00367480" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG;MIPsm" "DNA" "" "smMIPs of exons and few intronic regions"
"0000368709" "00367481" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG;MIPsm" "DNA" "" "smMIPs of exons and few intronic regions"
"0000368710" "00367482" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG;MIPsm" "DNA" "" "smMIPs of exons and few intronic regions"
"0000368711" "00367483" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG;MIPsm" "DNA" "" "smMIPs of exons and few intronic regions"
"0000368712" "00367484" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG;MIPsm" "DNA" "" "smMIPs of exons and few intronic regions"
"0000368713" "00367485" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG;MIPsm" "DNA" "" "smMIPs of exons and few intronic regions"
"0000368714" "00367486" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG;MIPsm" "DNA" "" "smMIPs of exons and few intronic regions"
"0000368715" "00367487" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG;MIPsm" "DNA" "" "smMIPs of exons and few intronic regions"
"0000368716" "00367488" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG;MIPsm" "DNA" "" "smMIPs of exons and few intronic regions"
"0000368717" "00367489" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG;MIPsm" "DNA" "" "smMIPs of exons and few intronic regions"
"0000368718" "00367490" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG;MIPsm" "DNA" "" "smMIPs of exons and few intronic regions"
"0000368719" "00367491" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG;MIPsm" "DNA" "" "smMIPs of exons and few intronic regions"
"0000368720" "00367492" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG;MIPsm" "DNA" "" "smMIPs of exons and few intronic regions"
"0000368721" "00367493" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG;MIPsm" "DNA" "" "smMIPs of exons and few intronic regions"
"0000368722" "00367494" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG;MIPsm" "DNA" "" "smMIPs of exons and few intronic regions"
"0000368723" "00367495" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG;MIPsm" "DNA" "" "smMIPs of exons and few intronic regions"
"0000368724" "00367496" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG;MIPsm" "DNA" "" "smMIPs of exons and few intronic regions"
"0000368725" "00367497" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG;MIPsm" "DNA" "" "smMIPs of exons and few intronic regions"
"0000368726" "00367498" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG;MIPsm" "DNA" "" "smMIPs of exons and few intronic regions"
"0000368727" "00367499" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG;MIPsm" "DNA" "" "smMIPs of exons and few intronic regions"
"0000368728" "00367500" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG;MIPsm" "DNA" "" "smMIPs of exons and few intronic regions"
"0000368729" "00367501" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG;MIPsm" "DNA" "" "smMIPs of exons and few intronic regions"
"0000368730" "00367502" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG;MIPsm" "DNA" "" "smMIPs of exons and few intronic regions"
"0000368731" "00367503" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG;MIPsm" "DNA" "" "smMIPs of exons and few intronic regions"
"0000368732" "00367504" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG;MIPsm" "DNA" "" "smMIPs of exons and few intronic regions"
"0000368733" "00367505" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG;MIPsm" "DNA" "" "smMIPs of exons and few intronic regions"
"0000368734" "00367506" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG;MIPsm" "DNA" "" "smMIPs of exons and few intronic regions"
"0000368735" "00367507" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG;MIPsm" "DNA" "" "smMIPs of exons and few intronic regions"
"0000368736" "00367508" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG;MIPsm" "DNA" "" "smMIPs of exons and few intronic regions"
"0000368737" "00367509" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG;MIPsm" "DNA" "" "smMIPs of exons and few intronic regions"
"0000368738" "00367510" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG;MIPsm" "DNA" "" "smMIPs of exons and few intronic regions"
"0000368739" "00367511" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG;MIPsm" "DNA" "" "smMIPs of exons and few intronic regions"
"0000368740" "00367512" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG;MIPsm" "DNA" "" "smMIPs of exons and few intronic regions"
"0000368741" "00367513" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368742" "00367514" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368743" "00367515" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368744" "00367516" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368745" "00367517" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368746" "00367518" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368747" "00367519" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368748" "00367520" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368749" "00367521" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368750" "00367522" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368751" "00367523" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368752" "00367524" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368753" "00367525" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368754" "00367526" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368755" "00367527" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368756" "00367528" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368757" "00367529" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368758" "00367530" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368759" "00367531" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368760" "00367532" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368761" "00367533" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368762" "00367534" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000368763" "00367535" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "MIPsm;SEQ" "DNA" "" ""
"0000368764" "00367536" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "MIPsm;SEQ" "DNA" "" ""
"0000368765" "00367537" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "MIPsm;SEQ" "DNA" "" ""
"0000368766" "00367538" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "MIPsm;SEQ" "DNA" "" ""
"0000368767" "00367539" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "MIPsm;SEQ" "DNA" "" ""
"0000368768" "00367540" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "MIPsm;SEQ" "DNA" "" ""
"0000368769" "00367541" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "MIPsm;SEQ" "DNA" "" ""
"0000368770" "00367542" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "MIPsm;SEQ" "DNA" "" ""
"0000368771" "00367543" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "MIPsm;SEQ" "DNA" "" ""
"0000368772" "00367544" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "MIPsm;SEQ" "DNA" "" ""
"0000368773" "00367545" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "MIPsm;SEQ" "DNA" "" ""
"0000368774" "00367546" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "MIPsm;SEQ" "DNA" "" ""
"0000368775" "00367547" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "MIPsm;SEQ" "DNA" "" ""
"0000368776" "00367548" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "MIPsm;SEQ" "DNA" "" ""
"0000368777" "00367549" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "MIPsm;SEQ" "DNA" "" ""
"0000368778" "00367550" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE" "DNA" "" "APEX"
"0000368779" "00367551" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE" "DNA" "" "APEX"
"0000368780" "00367552" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE" "DNA" "" "APEX"
"0000368781" "00367553" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE" "DNA" "" "APEX"
"0000368782" "00367554" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE" "DNA" "" "APEX"
"0000368783" "00367555" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE" "DNA" "" "APEX"
"0000368784" "00367556" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE" "DNA" "" "APEX"
"0000368785" "00367557" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE" "DNA" "" "APEX"
"0000368786" "00367558" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE" "DNA" "" "APEX"
"0000368787" "00367559" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE" "DNA" "" "APEX"
"0000368788" "00367560" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE" "DNA" "" "APEX"
"0000368789" "00367561" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE" "DNA" "" "APEX"
"0000368790" "00367562" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE" "DNA" "" "APEX"
"0000368791" "00367563" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE" "DNA" "" "APEX"
"0000368792" "00367564" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE" "DNA" "" "APEX"
"0000368793" "00367565" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE" "DNA" "" "APEX"
"0000368794" "00367566" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE" "DNA" "" "APEX"
"0000368795" "00367567" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE" "DNA" "" "APEX"
"0000368796" "00367568" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE" "DNA" "" "APEX"
"0000368797" "00367569" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE" "DNA" "" "APEX"
"0000368798" "00367570" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE" "DNA" "" "APEX"
"0000368799" "00367571" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE" "DNA" "" "APEX"
"0000368800" "00367572" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE" "DNA" "" "APEX"
"0000368801" "00367573" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE" "DNA" "" "APEX"
"0000368802" "00367574" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE" "DNA" "" "APEX"
"0000368803" "00367575" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE" "DNA" "" "APEX"
"0000368804" "00367576" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE" "DNA" "" "APEX"
"0000368805" "00367577" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE" "DNA" "" "APEX"
"0000368806" "00367578" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE" "DNA" "" "APEX"
"0000368807" "00367579" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE" "DNA" "" "APEX"
"0000368808" "00367580" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE" "DNA" "" "APEX"
"0000368809" "00367581" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE" "DNA" "" "APEX"
"0000368810" "00367582" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE" "DNA" "" "APEX"
"0000368811" "00367583" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE" "DNA" "" "APEX"
"0000368812" "00367584" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE" "DNA" "" "APEX"
"0000368813" "00367585" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE" "DNA" "" "APEX"
"0000368814" "00367586" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE" "DNA" "" "APEX"
"0000368815" "00367587" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE" "DNA" "" "APEX"
"0000368816" "00367588" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE" "DNA" "" "APEX"
"0000368817" "00367589" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE" "DNA" "" "APEX"
"0000368818" "00367590" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE" "DNA" "" "APEX"
"0000368819" "00367591" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE" "DNA" "" "APEX"
"0000368820" "00367592" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE" "DNA" "" "APEX"
"0000368821" "00367593" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE" "DNA" "" "APEX"
"0000368822" "00367594" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE" "DNA" "" "APEX"
"0000368823" "00367595" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE" "DNA" "" "APEX"
"0000368824" "00367596" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE" "DNA" "" "APEX"
"0000368825" "00367597" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE" "DNA" "" "APEX"
"0000368826" "00367598" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE" "DNA" "" "APEX"
"0000368827" "00367599" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE" "DNA" "" "APEX"
"0000368828" "00367600" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE" "DNA" "" "APEX"
"0000368829" "00367601" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE" "DNA" "" "APEX"
"0000368830" "00367602" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE" "DNA" "" "APEX"
"0000368831" "00367603" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE" "DNA" "" "APEX"
"0000368832" "00367604" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE" "DNA" "" "APEX"
"0000368833" "00367605" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE" "DNA" "" "APEX"
"0000368834" "00367606" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE" "DNA" "" "APEX"
"0000368835" "00367607" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE" "DNA" "" "APEX"
"0000368836" "00367608" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE" "DNA" "" "APEX"
"0000368837" "00367609" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE" "DNA" "" "APEX"
"0000368838" "00367610" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE" "DNA" "" "APEX"
"0000368839" "00367611" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE" "DNA" "" "APEX"
"0000368840" "00367612" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE" "DNA" "" "APEX"
"0000368841" "00367613" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE" "DNA" "" "APEX"
"0000368842" "00367614" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE" "DNA" "" "APEX"
"0000368843" "00367615" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE" "DNA" "" "APEX"
"0000368844" "00367616" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE" "DNA" "" "APEX"
"0000368845" "00367617" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE" "DNA" "" "APEX"
"0000368846" "00367618" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE" "DNA" "" "APEX"
"0000368847" "00367619" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE" "DNA" "" "APEX"
"0000368848" "00367620" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE" "DNA" "" "APEX"
"0000368849" "00367621" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE" "DNA" "" "APEX"
"0000368850" "00367622" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE" "DNA" "" "APEX"
"0000368851" "00367623" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE" "DNA" "" "APEX"
"0000368852" "00367624" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE" "DNA" "" "APEX"
"0000368853" "00367625" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE" "DNA" "" "APEX"
"0000368854" "00367626" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE" "DNA" "" "APEX"
"0000368855" "00367627" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE" "DNA" "" "APEX"
"0000368856" "00367628" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE" "DNA" "" "APEX"
"0000368857" "00367629" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE" "DNA" "" "APEX"
"0000368858" "00367630" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE" "DNA" "" "APEX"
"0000368859" "00367631" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE" "DNA" "" "APEX"
"0000368860" "00367632" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE" "DNA" "" "APEX"
"0000368861" "00367633" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE" "DNA" "" "APEX"
"0000368862" "00367634" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE" "DNA" "" "APEX"
"0000368863" "00367635" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE" "DNA" "" "APEX"
"0000368864" "00367636" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE" "DNA" "" "APEX"
"0000368865" "00367637" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE" "DNA" "" "APEX"
"0000368866" "00367638" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE" "DNA" "" "APEX"
"0000368867" "00367639" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE" "DNA" "" "APEX"
"0000368868" "00367640" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE" "DNA" "" "APEX"
"0000368869" "00367641" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE" "DNA" "" "APEX"
"0000368870" "00367642" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE" "DNA" "" "APEX"
"0000368871" "00367643" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE" "DNA" "" "APEX"
"0000368872" "00367644" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE" "DNA" "" "APEX"
"0000368873" "00367645" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE" "DNA" "" "APEX"
"0000368874" "00367646" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE" "DNA" "" "APEX"
"0000368875" "00367647" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE" "DNA" "" "APEX"
"0000368876" "00367648" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE" "DNA" "" "APEX"
"0000368877" "00367649" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE" "DNA" "" "APEX"
"0000368878" "00367650" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE" "DNA" "" "APEX"
"0000368879" "00367651" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE" "DNA" "" "APEX"
"0000368880" "00367652" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE" "DNA" "" "APEX"
"0000368881" "00367653" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE" "DNA" "" "APEX"
"0000368882" "00367654" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE" "DNA" "" "APEX"
"0000368883" "00367655" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE" "DNA" "" "APEX"
"0000368884" "00367656" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE" "DNA" "" "APEX"
"0000368885" "00367657" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE" "DNA" "" "APEX"
"0000368886" "00367658" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE" "DNA" "" "APEX"
"0000368887" "00367659" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE" "DNA" "" "APEX"
"0000368888" "00367660" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE" "DNA" "" "APEX"
"0000368889" "00367661" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE" "DNA" "" "APEX"
"0000368890" "00367662" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE" "DNA" "" "APEX"
"0000368891" "00367663" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE" "DNA" "" "APEX"
"0000368892" "00367664" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE" "DNA" "" "APEX"
"0000368893" "00367665" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE" "DNA" "" "APEX"
"0000368894" "00367666" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE" "DNA" "" "APEX"
"0000368895" "00367667" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE" "DNA" "" "APEX"
"0000368896" "00367668" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE" "DNA" "" "APEX"
"0000368897" "00367669" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE" "DNA" "" "APEX"
"0000368898" "00367670" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE" "DNA" "" "APEX"
"0000368899" "00367671" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE" "DNA" "" "APEX"
"0000368900" "00367672" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE" "DNA" "" "APEX"
"0000368901" "00367673" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE" "DNA" "" "APEX"
"0000368902" "00367674" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE" "DNA" "" "APEX"
"0000368903" "00367675" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE" "DNA" "" "APEX"
"0000368904" "00367676" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000368905" "00367677" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000368906" "00367678" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000368907" "00367679" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000368908" "00367680" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000368909" "00367681" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000368910" "00367682" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000368911" "00367683" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000368912" "00367684" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000368913" "00367685" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000368914" "00367686" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000368915" "00367687" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000368916" "00367688" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000368917" "00367689" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000368918" "00367690" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000368919" "00367691" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000368920" "00367692" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000368921" "00367693" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000368922" "00367694" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000368923" "00367695" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000368924" "00367696" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000368925" "00367697" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000368926" "00367698" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000368927" "00367699" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000368928" "00367700" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000368929" "00367701" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000368930" "00367702" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000368931" "00367703" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000368932" "00367704" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000368933" "00367705" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000368934" "00367706" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000368935" "00367707" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000368936" "00367708" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000368937" "00367709" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000368938" "00367710" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000368939" "00367711" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000368940" "00367712" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000368941" "00367713" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000368942" "00367714" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000368943" "00367715" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000368944" "00367716" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000368945" "00367717" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000368946" "00367718" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000368947" "00367719" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000368948" "00367720" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000368949" "00367721" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000368950" "00367722" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000368951" "00367723" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000368952" "00367724" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000368953" "00367725" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000368954" "00367726" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000368955" "00367727" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000368956" "00367728" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000368957" "00367729" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000368958" "00367730" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000368959" "00367731" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000368960" "00367732" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000368961" "00367733" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000368962" "00367734" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000368963" "00367735" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000368964" "00367736" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000368965" "00367737" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000368966" "00367738" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000368967" "00367739" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000368968" "00367740" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000368969" "00367741" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000368970" "00367742" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000368971" "00367743" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000368972" "00367744" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000368973" "00367745" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000368974" "00367746" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000368975" "00367747" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000368976" "00367748" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000368977" "00367749" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000368978" "00367750" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000368979" "00367751" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000368980" "00367752" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000368981" "00367753" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000368982" "00367754" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000368983" "00367755" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000368984" "00367756" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000368985" "00367757" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000368986" "00367758" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000368987" "00367759" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000368988" "00367760" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000368989" "00367761" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000368990" "00367762" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000368991" "00367763" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000368992" "00367764" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000368993" "00367765" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000368994" "00367766" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000368995" "00367767" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000368996" "00367768" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000368997" "00367769" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000368998" "00367770" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000368999" "00367771" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369000" "00367772" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369001" "00367773" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369002" "00367774" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369003" "00367775" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369004" "00367776" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369005" "00367777" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369006" "00367778" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369007" "00367779" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369008" "00367780" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369009" "00367781" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369010" "00367782" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369011" "00367783" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369012" "00367784" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369013" "00367785" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369014" "00367786" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369015" "00367787" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369016" "00367788" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369017" "00367789" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369018" "00367790" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369019" "00367791" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369020" "00367792" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369021" "00367793" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369022" "00367794" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369023" "00367795" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369024" "00367796" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369025" "00367797" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369026" "00367798" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369027" "00367799" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369028" "00367800" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369029" "00367801" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369030" "00367802" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369031" "00367803" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369032" "00367804" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369033" "00367805" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369034" "00367806" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369035" "00367807" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369036" "00367808" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369037" "00367809" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369038" "00367810" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369039" "00367811" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369040" "00367812" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369041" "00367813" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369042" "00367814" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369043" "00367815" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369044" "00367816" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369045" "00367817" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369046" "00367818" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369047" "00367819" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369048" "00367820" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369049" "00367821" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369050" "00367822" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369051" "00367823" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369052" "00367824" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369053" "00367825" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369054" "00367826" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369055" "00367827" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369056" "00367828" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369057" "00367829" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369058" "00367830" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369059" "00367831" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369060" "00367832" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369061" "00367833" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369062" "00367834" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369063" "00367835" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369064" "00367836" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369065" "00367837" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369066" "00367838" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369067" "00367839" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369068" "00367840" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369069" "00367841" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369070" "00367842" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369071" "00367843" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369072" "00367844" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369073" "00367845" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369074" "00367846" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369075" "00367847" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369076" "00367848" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369077" "00367849" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369078" "00367850" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369079" "00367851" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369080" "00367852" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369081" "00367853" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369082" "00367854" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369083" "00367855" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369084" "00367856" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369085" "00367857" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369086" "00367858" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369087" "00367859" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369088" "00367860" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369089" "00367861" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369090" "00367862" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369091" "00367863" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369092" "00367864" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369093" "00367865" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369094" "00367866" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369095" "00367867" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369096" "00367868" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369097" "00367869" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369098" "00367870" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369099" "00367871" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369100" "00367872" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369101" "00367873" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369102" "00367874" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369103" "00367875" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369104" "00367876" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369105" "00367877" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369106" "00367878" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369107" "00367879" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369108" "00367880" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369109" "00367881" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369110" "00367882" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369111" "00367883" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369112" "00367884" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369113" "00367885" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369114" "00367886" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369115" "00367887" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369116" "00367888" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369117" "00367889" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369118" "00367890" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369119" "00367891" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369120" "00367892" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369121" "00367893" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369122" "00367894" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369123" "00367895" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369124" "00367896" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369125" "00367897" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369126" "00367898" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369127" "00367899" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369128" "00367900" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369129" "00367901" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369130" "00367902" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369131" "00367903" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369132" "00367904" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369133" "00367905" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369134" "00367906" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369135" "00367907" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369136" "00367908" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369137" "00367909" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369138" "00367910" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369139" "00367911" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369140" "00367912" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369141" "00367913" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369142" "00367914" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369143" "00367915" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369144" "00367916" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369145" "00367917" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369146" "00367918" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369147" "00367919" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369148" "00367920" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369149" "00367921" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369150" "00367922" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369151" "00367923" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369152" "00367924" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369153" "00367925" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369154" "00367926" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369155" "00367927" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369156" "00367928" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369157" "00367929" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369158" "00367930" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369159" "00367931" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369160" "00367932" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369161" "00367933" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369162" "00367934" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369163" "00367935" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369164" "00367936" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369165" "00367937" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369166" "00367938" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369167" "00367939" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369168" "00367940" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369169" "00367941" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369170" "00367942" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369171" "00367943" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369172" "00367944" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369173" "00367945" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369174" "00367946" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369175" "00367947" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369176" "00367948" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369177" "00367949" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369178" "00367950" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000369179" "00367951" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000369180" "00367952" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000369181" "00367953" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000369182" "00367954" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000369183" "00367955" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000369184" "00367956" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000369185" "00367957" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000369186" "00367958" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000369187" "00367959" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000369188" "00367960" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000369189" "00367961" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000369190" "00367962" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000369191" "00367963" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000369192" "00367964" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000369193" "00367965" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000369194" "00367966" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000369195" "00367967" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000369196" "00367968" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000369197" "00367969" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000369198" "00367970" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000369199" "00367971" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000369200" "00367972" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000369201" "00367973" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000369202" "00367974" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000369203" "00367975" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000369204" "00367976" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000369205" "00367977" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000369206" "00367978" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000369207" "00367979" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000369208" "00367980" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000369209" "00367981" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000369210" "00367982" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000369211" "00367983" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369212" "00367984" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369213" "00367985" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369214" "00367986" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369215" "00367987" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369216" "00367988" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369217" "00367989" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369218" "00367990" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369219" "00367991" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369220" "00367992" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369221" "00367993" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369222" "00367994" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369223" "00367995" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369224" "00367996" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369225" "00367997" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369226" "00367998" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369227" "00367999" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369228" "00368000" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369229" "00368001" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369230" "00368002" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369231" "00368003" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369232" "00368004" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369233" "00368005" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369234" "00368006" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369235" "00368007" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369236" "00368008" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369237" "00368009" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369238" "00368010" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369239" "00368011" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369240" "00368012" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369241" "00368013" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369242" "00368014" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369243" "00368015" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369244" "00368016" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369245" "00368017" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369246" "00368018" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369247" "00368019" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369248" "00368020" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369249" "00368021" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369250" "00368022" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369251" "00368023" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369252" "00368024" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369253" "00368025" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369254" "00368026" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369255" "00368027" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369256" "00368028" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369257" "00368029" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369258" "00368030" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369259" "00368031" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369260" "00368032" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369261" "00368033" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369262" "00368034" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369263" "00368035" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369264" "00368036" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369265" "00368037" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369266" "00368038" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369267" "00368039" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369268" "00368040" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369269" "00368041" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369270" "00368042" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369271" "00368043" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369272" "00368044" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369273" "00368045" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369274" "00368046" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369275" "00368047" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369276" "00368048" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369277" "00368049" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369278" "00368050" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369279" "00368051" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369280" "00368052" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369281" "00368053" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369282" "00368054" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369283" "00368055" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369284" "00368056" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369285" "00368057" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369286" "00368058" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369287" "00368059" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369288" "00368060" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369289" "00368061" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369290" "00368062" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369291" "00368063" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369292" "00368064" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369293" "00368065" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369294" "00368066" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369295" "00368067" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369296" "00368068" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369297" "00368069" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369298" "00368070" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369299" "00368071" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369300" "00368072" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369301" "00368073" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369302" "00368074" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369303" "00368075" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369304" "00368076" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369305" "00368077" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369306" "00368078" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369307" "00368079" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369308" "00368080" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369309" "00368081" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369310" "00368082" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369311" "00368083" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369312" "00368084" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369313" "00368085" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369314" "00368086" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369315" "00368087" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369316" "00368088" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369317" "00368089" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369318" "00368090" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369319" "00368091" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369320" "00368092" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369321" "00368093" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369322" "00368094" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369323" "00368095" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369324" "00368096" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369325" "00368097" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "WES"
"0000369326" "00368098" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "WES"
"0000369327" "00368099" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SSCA;SEQ" "DNA" "" "SSCP coding region of ABCA4"
"0000369328" "00368100" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SSCA;SEQ" "DNA" "" "SSCP coding region of ABCA4"
"0000369329" "00368101" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SSCA;SEQ" "DNA" "" "SSCP coding region of ABCA4"
"0000369330" "00368102" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SSCA;SEQ" "DNA" "" "SSCP coding region of ABCA4"
"0000369331" "00368103" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SSCA;SEQ" "DNA" "" "SSCP coding region of ABCA4"
"0000369332" "00368104" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SSCA;SEQ" "DNA" "" "SSCP coding region of ABCA4"
"0000369333" "00368105" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SSCA;SEQ" "DNA" "" "SSCP coding region of ABCA4"
"0000369334" "00368106" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SSCA;SEQ" "DNA" "" "SSCP coding region of ABCA4"
"0000369335" "00368107" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SSCA;SEQ" "DNA" "" "SSCP coding region of ABCA4"
"0000369336" "00368108" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SSCA;SEQ" "DNA" "" "SSCP coding region of ABCA4"
"0000369337" "00368109" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SSCA;SEQ" "DNA" "" "SSCP coding region of ABCA4"
"0000369338" "00368110" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SSCA;SEQ" "DNA" "" "SSCP coding region of ABCA4"
"0000369339" "00368111" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SSCA;SEQ" "DNA" "" "SSCP coding region of ABCA4"
"0000369340" "00368112" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SSCA;SEQ" "DNA" "" "SSCP coding region of ABCA4"
"0000369341" "00368113" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SSCA;SEQ" "DNA" "" "SSCP coding region of ABCA4"
"0000369342" "00368114" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SSCA;SEQ" "DNA" "" "SSCP coding region of ABCA4"
"0000369343" "00368115" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SSCA;SEQ" "DNA" "" "SSCP coding region of ABCA4"
"0000369344" "00368116" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SSCA;SEQ" "DNA" "" "SSCP coding region of ABCA4"
"0000369345" "00368117" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SSCA;SEQ" "DNA" "" "SSCP coding region of ABCA4"
"0000369346" "00368118" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SSCA;SEQ" "DNA" "" "SSCP coding region of ABCA4"
"0000369347" "00368119" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SSCA;SEQ" "DNA" "" "SSCP coding region of ABCA4"
"0000369348" "00368120" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SSCA;SEQ" "DNA" "" "SSCP coding region of ABCA4"
"0000369349" "00368121" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SSCA;SEQ" "DNA" "" "SSCP coding region of ABCA4"
"0000369350" "00368122" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SSCA;SEQ" "DNA" "" "SSCP coding region of ABCA4"
"0000369351" "00368123" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SSCA;SEQ" "DNA" "" "SSCP coding region of ABCA4"
"0000369352" "00368124" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SSCA;SEQ" "DNA" "" "SSCP coding region of ABCA4"
"0000369353" "00368125" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SSCA;SEQ" "DNA" "" "SSCP coding region of ABCA4"
"0000369354" "00368126" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SSCA;SEQ" "DNA" "" "SSCP coding region of ABCA4"
"0000369355" "00368127" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SSCA;SEQ" "DNA" "" "SSCP coding region of ABCA4"
"0000369356" "00368128" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SSCA;SEQ" "DNA" "" "SSCP coding region of ABCA4"
"0000369357" "00368129" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SSCA;SEQ" "DNA" "" "SSCP coding region of ABCA4"
"0000369358" "00368130" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000369359" "00368131" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000369360" "00368132" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000369361" "00368133" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000369362" "00368134" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000369363" "00368135" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000369364" "00368136" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000369365" "00368137" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000369366" "00368138" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "WES"
"0000369367" "00368139" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "WES"
"0000369368" "00368140" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG;SEQ" "DNA" "" ""
"0000369369" "00368141" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG;SEQ" "DNA" "" ""
"0000369370" "00368142" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG;SEQ" "DNA" "" ""
"0000369371" "00368143" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG;SEQ" "DNA" "" ""
"0000369372" "00368144" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG;SEQ" "DNA" "" ""
"0000369373" "00368145" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG;SEQ" "DNA" "" ""
"0000369374" "00368146" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG;SEQ" "DNA" "" ""
"0000369375" "00368147" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG;SEQ" "DNA" "" ""
"0000369376" "00368148" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG;SEQ" "DNA" "" ""
"0000369377" "00368149" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG;SEQ" "DNA" "" ""
"0000369378" "00368150" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG;SEQ" "DNA" "" ""
"0000369379" "00368151" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG;SEQ" "DNA" "" ""
"0000369380" "00368152" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG;SEQ" "DNA" "" ""
"0000369381" "00368153" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG;SEQ" "DNA" "" ""
"0000369382" "00368154" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369383" "00368155" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369384" "00368156" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369385" "00368157" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369386" "00368158" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369387" "00368159" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369450" "00368222" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000369451" "00368223" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000369452" "00368224" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000369453" "00368225" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000369454" "00368226" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000369455" "00368227" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000369456" "00368228" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000369457" "00368229" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000369458" "00368230" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000369459" "00368231" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000369460" "00368232" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000369461" "00368233" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000369462" "00368234" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000369463" "00368235" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000369464" "00368236" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000369465" "00368237" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000369466" "00368238" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000369467" "00368239" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000369468" "00368240" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000369469" "00368241" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000369470" "00368242" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000369471" "00368243" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000369472" "00368244" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000369473" "00368245" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "gene panel, all exons ABCA4"
"0000369474" "00368246" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "gene panel, all exons ABCA4"
"0000369475" "00368247" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "WES"
"0000369476" "00368248" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "gene panel, all exons ABCA4"
"0000369477" "00368249" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "gene panel, all exons ABCA4"
"0000369478" "00368250" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "gene panel, all exons ABCA4"
"0000369479" "00368251" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "gene panel, all exons ABCA4"
"0000369480" "00368252" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "WES"
"0000369481" "00368253" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "gene panel, all exons ABCA4"
"0000369482" "00368254" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "gene panel, all exons ABCA4"
"0000369483" "00368255" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "gene panel, all exons ABCA4"
"0000369484" "00368256" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ;arraySNP" "DNA" "" "WES"
"0000369485" "00368257" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ;arraySNP" "DNA" "" "WES"
"0000369486" "00368258" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ;arraySNP" "DNA" "" "WES"
"0000369487" "00368259" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ;arraySNP" "DNA" "" "WES"
"0000369488" "00368260" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ;arraySNP" "DNA" "" "WES"
"0000369489" "00368261" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ;arraySNP" "DNA" "" "WES"
"0000369490" "00368262" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ;arraySNP" "DNA" "" "WES"
"0000369491" "00368263" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ;arraySNP" "DNA" "" "WES"
"0000369492" "00368264" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ;arraySNP" "DNA" "" "WES"
"0000369493" "00368265" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ;arraySNP" "DNA" "" "WES"
"0000369494" "00368266" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000369495" "00368267" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000369496" "00368268" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ" "DNA" "" "arRP-I chip"
"0000369497" "00368269" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ" "DNA" "" "arRP-I chip"
"0000369498" "00368270" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ" "DNA" "" "arRP-I chip"
"0000369499" "00368271" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000369500" "00368272" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "Retina-Array"
"0000369501" "00368273" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "Retina-Array"
"0000369502" "00368274" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "Retina-Array"
"0000369503" "00368275" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "Retina-Array"
"0000369504" "00368276" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ-NG" "DNA" "" "Retina-Array"
"0000369505" "00368277" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG;SEQ" "DNA" "" ""
"0000369506" "00368278" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG;SEQ" "DNA" "" ""
"0000369507" "00368279" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG;SEQ" "DNA" "" ""
"0000369508" "00368280" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000369509" "00368281" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000369510" "00368282" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000369511" "00368283" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000369512" "00368284" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000369513" "00368285" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000369514" "00368286" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000369515" "00368287" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000369516" "00368288" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000369517" "00368289" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000369518" "00368290" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000369519" "00368291" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000369520" "00368292" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000369521" "00368293" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000369522" "00368294" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000369523" "00368295" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000369524" "00368296" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000369525" "00368297" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000369526" "00368298" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000369527" "00368299" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000369528" "00368300" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000369529" "00368301" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000369530" "00368302" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000369531" "00368303" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000369532" "00368304" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000369533" "00368305" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000369534" "00368306" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000369535" "00368307" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000369536" "00368308" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000369537" "00368309" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000369538" "00368310" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000369539" "00368311" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000369540" "00368312" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000369541" "00368313" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG;SEQ" "DNA" "" ""
"0000369542" "00368314" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG;SEQ" "DNA" "" ""
"0000369543" "00368315" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG;SEQ" "DNA" "" ""
"0000369544" "00368316" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG;SEQ" "DNA" "" ""
"0000369545" "00368317" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG;SEQ" "DNA" "" ""
"0000369546" "00368318" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000369547" "00368319" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000369548" "00368320" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000369549" "00368321" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000369550" "00368322" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000369551" "00368323" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000369552" "00368324" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000369553" "00368325" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000369554" "00368326" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000369555" "00368327" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000369556" "00368328" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000369557" "00368329" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000369558" "00368330" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000369559" "00368331" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000369560" "00368332" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000369561" "00368333" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000369562" "00368334" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000369563" "00368335" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000369564" "00368336" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000369565" "00368337" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000369566" "00368338" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000369567" "00368339" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000369568" "00368340" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000369569" "00368341" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000369570" "00368342" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000369571" "00368343" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000369572" "00368344" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000369573" "00368345" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000369574" "00368346" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000369575" "00368347" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000369576" "00368348" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000369577" "00368349" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000369578" "00368350" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000369579" "00368351" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000369580" "00368352" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" "exon 6"
"0000369581" "00368353" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" "exon 6"
"0000369582" "00368354" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000369583" "00368355" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000369584" "00368356" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000369585" "00368357" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000369586" "00368358" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000369587" "00368359" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SSCA;SEQ" "DNA" "" "SSCP or APEX or SEQ"
"0000369588" "00368360" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SSCA;SEQ" "DNA" "" "SSCP or APEX or SEQ"
"0000369589" "00368361" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SSCA;SEQ" "DNA" "" "SSCP or APEX or SEQ"
"0000369590" "00368362" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SSCA;SEQ" "DNA" "" "SSCP or APEX or SEQ"
"0000369591" "00368363" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SSCA;SEQ" "DNA" "" "SSCP or APEX or SEQ"
"0000369592" "00368364" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SSCA;SEQ" "DNA" "" "SSCP or APEX or SEQ"
"0000369593" "00368365" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SSCA;SEQ" "DNA" "" "SSCP or APEX or SEQ"
"0000369594" "00368366" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SSCA;SEQ" "DNA" "" "SSCP or APEX or SEQ"
"0000369595" "00368367" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SSCA;SEQ" "DNA" "" "SSCP or APEX or SEQ"
"0000369596" "00368368" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SSCA;SEQ" "DNA" "" "SSCP or APEX or SEQ"
"0000369597" "00368369" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SSCA;SEQ" "DNA" "" "SSCP or APEX or SEQ"
"0000369598" "00368370" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SSCA;SEQ" "DNA" "" "SSCP or APEX or SEQ"
"0000369599" "00368371" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SSCA;SEQ" "DNA" "" "SSCP or APEX or SEQ"
"0000369600" "00368372" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SSCA;SEQ" "DNA" "" "SSCP or APEX or SEQ"
"0000369601" "00368373" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SSCA;SEQ" "DNA" "" "SSCP or APEX or SEQ"
"0000369602" "00368374" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SSCA;SEQ" "DNA" "" "SSCP or APEX or SEQ"
"0000369603" "00368375" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SSCA;SEQ" "DNA" "" "SSCP or APEX or SEQ"
"0000369604" "00368376" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SSCA;SEQ" "DNA" "" "SSCP or APEX or SEQ"
"0000369605" "00368377" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SSCA;SEQ" "DNA" "" "SSCP or APEX or SEQ"
"0000369606" "00368378" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SSCA;SEQ" "DNA" "" "SSCP or APEX or SEQ"
"0000369607" "00368379" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SSCA;SEQ" "DNA" "" "SSCP or APEX or SEQ"
"0000369608" "00368380" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000369609" "00368381" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ-NG" "DNA" "" "APEX or SEQ-NG"
"0000369610" "00368382" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ-NG" "DNA" "" "APEX or SEQ-NG"
"0000369611" "00368383" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ-NG" "DNA" "" "APEX or SEQ-NG"
"0000369612" "00368384" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ-NG" "DNA" "" "APEX or SEQ-NG"
"0000369613" "00368385" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ-NG" "DNA" "" "APEX or SEQ-NG"
"0000369614" "00368386" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ-NG" "DNA" "" "APEX or SEQ-NG"
"0000369615" "00368387" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ-NG" "DNA" "" "APEX or SEQ-NG"
"0000369616" "00368388" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ-NG" "DNA" "" "APEX or SEQ-NG"
"0000369617" "00368389" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ-NG" "DNA" "" "APEX or SEQ-NG"
"0000369618" "00368390" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ-NG" "DNA" "" "APEX or SEQ-NG"
"0000369619" "00368391" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ-NG" "DNA" "" "APEX or SEQ-NG"
"0000369620" "00368392" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ-NG" "DNA" "" "APEX or SEQ-NG"
"0000369621" "00368393" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ-NG" "DNA" "" "APEX or SEQ-NG"
"0000369622" "00368394" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ-NG" "DNA" "" "APEX or SEQ-NG"
"0000369623" "00368395" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ-NG" "DNA" "" "APEX or SEQ-NG"
"0000369624" "00368396" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ-NG" "DNA" "" "APEX or SEQ-NG"
"0000369625" "00368397" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ-NG" "DNA" "" "APEX or SEQ-NG"
"0000369626" "00368398" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ-NG" "DNA" "" "APEX or SEQ-NG"
"0000369627" "00368399" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ-NG" "DNA" "" "APEX or SEQ-NG"
"0000369628" "00368400" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ-NG" "DNA" "" "APEX or SEQ-NG"
"0000369629" "00368401" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ-NG" "DNA" "" "APEX or SEQ-NG"
"0000369630" "00368402" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ-NG" "DNA" "" "APEX or SEQ-NG"
"0000369631" "00368403" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ-NG" "DNA" "" "APEX or SEQ-NG"
"0000369632" "00368404" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ-NG" "DNA" "" "APEX or SEQ-NG"
"0000369633" "00368405" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ-NG" "DNA" "" "APEX or SEQ-NG"
"0000369634" "00368406" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ-NG" "DNA" "" "APEX or SEQ-NG"
"0000369635" "00368407" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ-NG" "DNA" "" "APEX or SEQ-NG"
"0000369636" "00368408" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ-NG" "DNA" "" "APEX or SEQ-NG"
"0000369637" "00368409" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ-NG" "DNA" "" "APEX or SEQ-NG"
"0000369638" "00368410" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ-NG" "DNA" "" "APEX or SEQ-NG"
"0000369639" "00368411" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ-NG" "DNA" "" "APEX or SEQ-NG"
"0000369640" "00368412" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ-NG" "DNA" "" "APEX or SEQ-NG"
"0000369641" "00368413" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ-NG" "DNA" "" "APEX or SEQ-NG"
"0000369642" "00368414" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ-NG" "DNA" "" "APEX or SEQ-NG"
"0000369643" "00368415" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ-NG" "DNA" "" "APEX or SEQ-NG"
"0000369644" "00368416" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ-NG" "DNA" "" "APEX or SEQ-NG"
"0000369645" "00368417" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369646" "00368418" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369647" "00368419" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369648" "00368420" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369649" "00368421" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369650" "00368422" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369651" "00368423" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369652" "00368424" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369653" "00368425" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369654" "00368426" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369655" "00368427" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369656" "00368428" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369657" "00368429" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369658" "00368430" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369659" "00368431" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369660" "00368432" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369661" "00368433" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369662" "00368434" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369663" "00368435" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369664" "00368436" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369665" "00368437" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369666" "00368438" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369667" "00368439" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369668" "00368440" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369669" "00368441" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369670" "00368442" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369671" "00368443" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369672" "00368444" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369673" "00368445" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369674" "00368446" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369675" "00368447" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369676" "00368448" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369677" "00368449" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369678" "00368450" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369679" "00368451" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369680" "00368452" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369681" "00368453" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369682" "00368454" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369683" "00368455" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369684" "00368456" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369685" "00368457" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369686" "00368458" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369687" "00368459" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000369688" "00368460" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000369689" "00368461" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000369690" "00368462" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000369691" "00368463" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000369692" "00368464" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000369693" "00368465" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000369694" "00368466" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000369695" "00368467" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000369696" "00368468" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000369697" "00368469" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000369698" "00368470" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000369699" "00368471" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000369700" "00368472" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE" "DNA" "" "APEX"
"0000369701" "00368473" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000369702" "00368474" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000369703" "00368475" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000369704" "00368476" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000369705" "00368477" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000369706" "00368478" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000369707" "00368479" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000369708" "00368480" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000369709" "00368481" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000369710" "00368482" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000369711" "00368483" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000369712" "00368484" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000369713" "00368485" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "MLPA;SEQ" "DNA" "" "MLPA and SEQ or SEQ-NG"
"0000369714" "00368486" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000369715" "00368487" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000369716" "00368488" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000369717" "00368489" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000369718" "00368490" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000369719" "00368491" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000369720" "00368492" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000369721" "00368493" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000369722" "00368494" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000369723" "00368495" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000369724" "00368496" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000369725" "00368497" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000369726" "00368498" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000369727" "00368499" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000369728" "00368500" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000369729" "00368501" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000369730" "00368502" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000369731" "00368503" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000369732" "00368504" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000369733" "00368505" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000369734" "00368506" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000369735" "00368507" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000369736" "00368508" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000369737" "00368509" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PCRh;SEQ" "DNA" "" "Haloplex"
"0000369738" "00368510" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PCRh;SEQ" "DNA" "" "Haloplex"
"0000369739" "00368511" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000369740" "00368512" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000369741" "00368513" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000369742" "00368514" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000369743" "00368515" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000369744" "00368516" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000369745" "00368517" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000369746" "00368518" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000369747" "00368519" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000369748" "00368520" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000369749" "00368521" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000369750" "00368522" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000369751" "00368523" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000369752" "00368524" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000369753" "00368525" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000369754" "00368526" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000369755" "00368527" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000369756" "00368528" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000369757" "00368529" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000369758" "00368530" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000369759" "00368531" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000369760" "00368532" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000369761" "00368533" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000369762" "00368534" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000369763" "00368535" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000369764" "00368536" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000369765" "00368537" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000369766" "00368538" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000369767" "00368539" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000369768" "00368540" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000369769" "00368541" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000369770" "00368542" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000369771" "00368543" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000369772" "00368544" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000369773" "00368545" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000369774" "00368546" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000369775" "00368547" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000369776" "00368548" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000369777" "00368549" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000369778" "00368550" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000369779" "00368551" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000369780" "00368552" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000369781" "00368553" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000369782" "00368554" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000369783" "00368555" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000369784" "00368556" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000369785" "00368557" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000369786" "00368558" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000369787" "00368559" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000369788" "00368560" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000369789" "00368561" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000369790" "00368562" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000369791" "00368563" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000369792" "00368564" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000369793" "00368565" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000369794" "00368566" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000369795" "00368567" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000369796" "00368568" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000369797" "00368569" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000369798" "00368570" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000369799" "00368571" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000369800" "00368572" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000369801" "00368573" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000369802" "00368574" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000369803" "00368575" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000369804" "00368576" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000369805" "00368577" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000369806" "00368578" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000369807" "00368579" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000369808" "00368580" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000369809" "00368581" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000369810" "00368582" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000369811" "00368583" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000369812" "00368584" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000369813" "00368585" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000369814" "00368586" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000369815" "00368587" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000369816" "00368588" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000369817" "00368589" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000369818" "00368590" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000369819" "00368591" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000369820" "00368592" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000369821" "00368593" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000369822" "00368594" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000369823" "00368595" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000369824" "00368596" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000369825" "00368597" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000369826" "00368598" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000369827" "00368599" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000369828" "00368600" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000369829" "00368601" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000369830" "00368602" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000369831" "00368603" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000369832" "00368604" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000369833" "00368605" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000369834" "00368606" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "WES"
"0000369835" "00368607" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "WES"
"0000369836" "00368608" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "WES"
"0000369837" "00368609" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "WES"
"0000369838" "00368610" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG;SEQ" "DNA" "" "exons and flanking regions"
"0000369839" "00368611" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG;SEQ" "DNA" "" "exons and flanking regions"
"0000369840" "00368612" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG;SEQ" "DNA" "" "exons and flanking regions"
"0000369841" "00368613" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "WES"
"0000369842" "00368614" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "WES"
"0000369843" "00368615" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "WES"
"0000369844" "00368616" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "WES"
"0000369845" "00368617" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "WES"
"0000369846" "00368618" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "WES"
"0000369847" "00368619" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "WES"
"0000369848" "00368620" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "WES"
"0000369849" "00368621" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "WES"
"0000369850" "00368622" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" "exons and flanking intronic regions"
"0000369851" "00368623" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" "exons and flanking intronic regions"
"0000369852" "00368624" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" "exons and flanking intronic regions"
"0000369853" "00368625" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" "exons and flanking intronic regions"
"0000369854" "00368626" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" "exons and flanking intronic regions"
"0000369855" "00368627" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" "exons and flanking intronic regions"
"0000369856" "00368628" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" "exons and flanking intronic regions"
"0000369857" "00368629" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" "exons and flanking intronic regions"
"0000369858" "00368630" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" "exons and flanking intronic regions"
"0000369859" "00368631" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" "exons and flanking intronic regions"
"0000369860" "00368632" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" "exons and flanking intronic regions"
"0000369861" "00368633" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" "exons and flanking intronic regions"
"0000369862" "00368634" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" "exons and flanking intronic regions"
"0000369863" "00368635" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" "exons and flanking intronic regions"
"0000369864" "00368636" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" "exons and flanking intronic regions"
"0000369865" "00368637" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" "exons and flanking intronic regions"
"0000369866" "00368638" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" "exons and flanking intronic regions"
"0000369867" "00368639" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" "exons and flanking intronic regions"
"0000369868" "00368640" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" "exons and flanking intronic regions"
"0000369869" "00368641" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" "exons and flanking intronic regions"
"0000369870" "00368642" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" "exons and flanking intronic regions"
"0000369871" "00368643" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" "exons and flanking intronic regions"
"0000369872" "00368644" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" "exons and flanking intronic regions"
"0000369873" "00368645" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" "exons and flanking intronic regions"
"0000369874" "00368646" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" "exons and flanking intronic regions"
"0000369875" "00368647" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" "exons and flanking intronic regions"
"0000369876" "00368648" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" "exons and flanking intronic regions"
"0000369877" "00368649" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" "exons and flanking intronic regions"
"0000369878" "00368650" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" "exons and flanking intronic regions"
"0000369879" "00368651" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" "exons and flanking intronic regions"
"0000369880" "00368652" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" "exons and flanking intronic regions"
"0000369881" "00368653" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" "exons and flanking intronic regions"
"0000369882" "00368654" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" "exons and flanking intronic regions"
"0000369883" "00368655" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" "exons and flanking intronic regions"
"0000369884" "00368656" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" "exons and flanking intronic regions"
"0000369885" "00368657" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" "exons and flanking intronic regions"
"0000369886" "00368658" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" "exons and flanking intronic regions"
"0000369887" "00368659" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" "exons and flanking intronic regions"
"0000369888" "00368660" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" "exons and flanking intronic regions"
"0000369889" "00368661" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" "exons and flanking intronic regions"
"0000369890" "00368662" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" "exons and flanking intronic regions"
"0000369891" "00368663" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369892" "00368664" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369893" "00368665" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369894" "00368666" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369895" "00368667" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369896" "00368668" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369897" "00368669" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369898" "00368670" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369899" "00368671" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369900" "00368672" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369901" "00368673" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369902" "00368674" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369903" "00368675" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369904" "00368676" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369905" "00368677" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369906" "00368678" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369907" "00368679" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369908" "00368680" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369909" "00368681" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369910" "00368682" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369911" "00368683" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369912" "00368684" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369913" "00368685" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369914" "00368686" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369915" "00368687" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369916" "00368688" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369917" "00368689" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369918" "00368690" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369919" "00368691" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369920" "00368692" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369921" "00368693" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369922" "00368694" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369923" "00368695" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369924" "00368696" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369925" "00368697" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369926" "00368698" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369927" "00368699" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369928" "00368700" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369929" "00368701" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369930" "00368702" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369931" "00368703" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369932" "00368704" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369933" "00368705" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369934" "00368706" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369935" "00368707" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369936" "00368708" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369937" "00368709" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369938" "00368710" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369939" "00368711" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369940" "00368712" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369941" "00368713" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369942" "00368714" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369943" "00368715" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369944" "00368716" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369945" "00368717" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369946" "00368718" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369947" "00368719" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369948" "00368720" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369949" "00368721" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369950" "00368722" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369951" "00368723" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369952" "00368724" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369953" "00368725" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369954" "00368726" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369955" "00368727" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369956" "00368728" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369957" "00368729" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369958" "00368730" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369959" "00368731" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369960" "00368732" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369961" "00368733" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369962" "00368734" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369963" "00368735" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369964" "00368736" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369965" "00368737" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369966" "00368738" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369967" "00368739" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369968" "00368740" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369969" "00368741" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369970" "00368742" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369971" "00368743" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369972" "00368744" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369973" "00368745" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369974" "00368746" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369975" "00368747" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369976" "00368748" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369977" "00368749" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369978" "00368750" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369979" "00368751" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369980" "00368752" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369981" "00368753" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369982" "00368754" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369983" "00368755" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369984" "00368756" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369985" "00368757" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369986" "00368758" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369987" "00368759" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369988" "00368760" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369989" "00368761" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369990" "00368762" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369991" "00368763" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369992" "00368764" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369993" "00368765" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369994" "00368766" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369995" "00368767" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369996" "00368768" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369997" "00368769" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369998" "00368770" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000369999" "00368771" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370000" "00368772" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370001" "00368773" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370002" "00368774" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370003" "00368775" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370004" "00368776" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370005" "00368777" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370006" "00368778" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370007" "00368779" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370008" "00368780" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370009" "00368781" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370010" "00368782" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370011" "00368783" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370012" "00368784" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370013" "00368785" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370014" "00368786" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370015" "00368787" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370016" "00368788" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370017" "00368789" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370018" "00368790" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370019" "00368791" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370020" "00368792" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370021" "00368793" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370022" "00368794" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370023" "00368795" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370024" "00368796" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370025" "00368797" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370026" "00368798" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370027" "00368799" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370028" "00368800" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370029" "00368801" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370030" "00368802" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370031" "00368803" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370032" "00368804" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370033" "00368805" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370034" "00368806" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370035" "00368807" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370036" "00368808" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370037" "00368809" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370038" "00368810" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370039" "00368811" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370040" "00368812" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370041" "00368813" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370042" "00368814" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370043" "00368815" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370044" "00368816" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370045" "00368817" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370046" "00368818" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370047" "00368819" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370048" "00368820" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370049" "00368821" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370050" "00368822" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370051" "00368823" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370052" "00368824" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370053" "00368825" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370054" "00368826" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370055" "00368827" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370056" "00368828" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370057" "00368829" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370058" "00368830" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370059" "00368831" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370060" "00368832" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370061" "00368833" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370062" "00368834" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370063" "00368835" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370064" "00368836" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370065" "00368837" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370066" "00368838" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370067" "00368839" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370068" "00368840" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370069" "00368841" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370070" "00368842" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370071" "00368843" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370072" "00368844" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370073" "00368845" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370074" "00368846" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370075" "00368847" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370076" "00368848" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370077" "00368849" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370078" "00368850" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370079" "00368851" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370080" "00368852" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370081" "00368853" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370082" "00368854" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370083" "00368855" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370084" "00368856" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370085" "00368857" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370086" "00368858" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370087" "00368859" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370088" "00368860" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370089" "00368861" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370090" "00368862" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370091" "00368863" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370092" "00368864" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370093" "00368865" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370094" "00368866" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370095" "00368867" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370096" "00368868" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370097" "00368869" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370098" "00368870" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370099" "00368871" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370100" "00368872" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370101" "00368873" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370102" "00368874" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370103" "00368875" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370104" "00368876" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370105" "00368877" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370106" "00368878" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370107" "00368879" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370108" "00368880" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370109" "00368881" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370110" "00368882" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370111" "00368883" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370112" "00368884" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370113" "00368885" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370114" "00368886" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370115" "00368887" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370116" "00368888" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370117" "00368889" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370118" "00368890" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370119" "00368891" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370120" "00368892" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370121" "00368893" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370122" "00368894" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370123" "00368895" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370124" "00368896" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370125" "00368897" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370126" "00368898" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370127" "00368899" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370128" "00368900" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370129" "00368901" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370130" "00368902" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370131" "00368903" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370132" "00368904" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370133" "00368905" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370134" "00368906" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370135" "00368907" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370136" "00368908" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370137" "00368909" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370138" "00368910" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370139" "00368911" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370140" "00368912" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370141" "00368913" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370142" "00368914" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370143" "00368915" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370144" "00368916" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370145" "00368917" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370146" "00368918" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370147" "00368919" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370148" "00368920" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370149" "00368921" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370150" "00368922" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370151" "00368923" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370152" "00368924" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370153" "00368925" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370154" "00368926" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370155" "00368927" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370156" "00368928" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370157" "00368929" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370158" "00368930" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370159" "00368931" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370160" "00368932" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370161" "00368933" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370162" "00368934" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370163" "00368935" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370164" "00368936" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370165" "00368937" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370166" "00368938" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370167" "00368939" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370168" "00368940" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370169" "00368941" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370170" "00368942" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370171" "00368943" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370172" "00368944" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370173" "00368945" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370174" "00368946" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370175" "00368947" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370176" "00368948" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370177" "00368949" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370178" "00368950" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370179" "00368951" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "WES"
"0000370180" "00368952" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370181" "00368953" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370182" "00368954" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370183" "00368955" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370184" "00368956" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370185" "00368957" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370186" "00368958" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370187" "00368959" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370188" "00368960" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "GEDi"
"0000370189" "00368961" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "GEDi"
"0000370190" "00368962" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "GEDi"
"0000370191" "00368963" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "GEDi"
"0000370192" "00368964" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "GEDi"
"0000370193" "00368965" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "GEDi"
"0000370194" "00368966" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "GEDi"
"0000370195" "00368967" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "GEDi"
"0000370196" "00368968" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "GEDi"
"0000370197" "00368969" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "GEDi"
"0000370198" "00368970" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "GEDi"
"0000370199" "00368971" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "GEDi"
"0000370200" "00368972" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "GEDi"
"0000370201" "00368973" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "GEDi"
"0000370202" "00368974" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "GEDi"
"0000370203" "00368975" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "GEDi"
"0000370204" "00368976" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370205" "00368977" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000370206" "00368978" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000370207" "00368979" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000370208" "00368980" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "PE;SEQ" "DNA" "" "APEX"
"0000370209" "00368981" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "next-generation multiplexing assay Vision Panel"
"0000370210" "00368982" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "next-generation multiplexing assay Vision Panel"
"0000370211" "00368983" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "next-generation multiplexing assay Vision Panel"
"0000370212" "00368984" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "next-generation multiplexing assay Vision Panel"
"0000370213" "00368985" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "next-generation multiplexing assay Vision Panel"
"0000370214" "00368986" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "next-generation multiplexing assay Vision Panel"
"0000370215" "00368987" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "next-generation multiplexing assay Vision Panel"
"0000370216" "00368988" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "next-generation multiplexing assay Vision Panel"
"0000370217" "00368989" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "next-generation multiplexing assay Vision Panel"
"0000370218" "00368990" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "next-generation multiplexing assay Vision Panel"
"0000370219" "00368991" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "next-generation multiplexing assay Vision Panel"
"0000370220" "00368992" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "next-generation multiplexing assay Vision Panel"
"0000370221" "00368993" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "next-generation multiplexing assay Vision Panel"
"0000370222" "00368994" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "WES"
"0000370223" "00368995" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "WES"
"0000370224" "00368996" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "WES"
"0000370225" "00368997" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "WES"
"0000370226" "00368998" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "WES"
"0000370227" "00368999" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "gene panel; WES"
"0000370228" "00369000" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "panel"
"0000370229" "00369001" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "WES"
"0000370230" "00369002" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "WES"
"0000370231" "00369003" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "WES"
"0000370232" "00369004" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "WES"
"0000370233" "00369005" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "WES"
"0000370234" "00369006" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "WES"
"0000370235" "00369007" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "WES"
"0000370236" "00369008" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "WES"
"0000370237" "00369009" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370238" "00369010" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370239" "00369011" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370240" "00369012" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370241" "00369013" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370242" "00369014" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370243" "00369015" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370244" "00369016" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370245" "00369017" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370246" "00369018" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370247" "00369019" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370248" "00369020" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370249" "00369021" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370250" "00369022" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370251" "00369023" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370252" "00369024" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370253" "00369025" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370254" "00369026" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370255" "00369027" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370256" "00369028" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370257" "00369029" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "WES"
"0000370258" "00369030" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "WES"
"0000370259" "00369031" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "WES"
"0000370260" "00369032" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "WES"
"0000370261" "00369033" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "WES"
"0000370262" "00369034" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "WES"
"0000370263" "00369035" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "WES"
"0000370264" "00369036" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370265" "00369037" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370266" "00369038" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "WES"
"0000370267" "00369039" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "WES"
"0000370268" "00369040" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "WES"
"0000370269" "00369041" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "WES"
"0000370270" "00369042" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "WES"
"0000370271" "00369043" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370272" "00369044" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370273" "00369045" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370274" "00369046" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370275" "00369047" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370276" "00369048" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370277" "00369049" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370278" "00369050" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370279" "00369051" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370280" "00369052" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370281" "00369053" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370282" "00369054" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370283" "00369055" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370284" "00369056" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370285" "00369057" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370286" "00369058" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370287" "00369059" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370288" "00369060" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370289" "00369061" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370290" "00369062" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370291" "00369063" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370292" "00369064" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370293" "00369065" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370294" "00369066" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370295" "00369067" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370296" "00369068" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370297" "00369069" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370298" "00369070" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370299" "00369071" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370300" "00369072" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370301" "00369073" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370302" "00369074" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370303" "00369075" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370304" "00369076" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370305" "00369077" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370306" "00369078" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370307" "00369079" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370308" "00369080" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370309" "00369081" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370310" "00369082" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370311" "00369083" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370312" "00369084" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370313" "00369085" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370314" "00369086" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370315" "00369087" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370316" "00369088" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370317" "00369089" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370318" "00369090" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370319" "00369091" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370320" "00369092" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370321" "00369093" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370322" "00369094" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370323" "00369095" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370324" "00369096" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370325" "00369097" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370326" "00369098" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370327" "00369099" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370328" "00369100" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370329" "00369101" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370330" "00369102" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370331" "00369103" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370332" "00369104" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370333" "00369105" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370334" "00369106" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370335" "00369107" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370336" "00369108" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370337" "00369109" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370338" "00369110" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370339" "00369111" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370340" "00369112" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370341" "00369113" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370342" "00369114" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370343" "00369115" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370344" "00369116" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370345" "00369117" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370346" "00369118" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370347" "00369119" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370348" "00369120" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370349" "00369121" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370350" "00369122" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370351" "00369123" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "WES"
"0000370352" "00369124" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "WES"
"0000370353" "00369125" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "WES"
"0000370354" "00369126" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "WES"
"0000370355" "00369127" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "WES"
"0000370356" "00369128" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "WES"
"0000370357" "00369129" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "WES"
"0000370358" "00369130" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "WES"
"0000370359" "00369131" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "WES"
"0000370360" "00369132" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "WES"
"0000370361" "00369133" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "WES"
"0000370362" "00369134" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "WES"
"0000370363" "00369135" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "WES"
"0000370364" "00369136" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "WES"
"0000370365" "00369137" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "WES"
"0000370366" "00369138" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "WES"
"0000370367" "00369139" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "WES"
"0000370368" "00369140" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370369" "00369141" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370370" "00369142" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370371" "00369143" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370372" "00369144" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370373" "00369145" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370374" "00369146" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370375" "00369147" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370376" "00369148" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370377" "00369149" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370378" "00369150" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370379" "00369151" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370380" "00369152" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370381" "00369153" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370382" "00369154" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370383" "00369155" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370384" "00369156" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370385" "00369157" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370386" "00369158" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370387" "00369159" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370388" "00369160" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370389" "00369161" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370390" "00369162" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370391" "00369163" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370392" "00369164" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370393" "00369165" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370394" "00369166" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370395" "00369167" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370396" "00369168" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370397" "00369169" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370398" "00369170" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370399" "00369171" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370400" "00369172" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370401" "00369173" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370402" "00369174" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370403" "00369175" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370404" "00369176" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370405" "00369177" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370406" "00369178" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370407" "00369179" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370408" "00369180" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370409" "00369181" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370410" "00369182" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370411" "00369183" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370412" "00369184" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370413" "00369185" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370414" "00369186" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370415" "00369187" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370416" "00369188" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370417" "00369189" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370418" "00369190" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370419" "00369191" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370420" "00369192" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370421" "00369193" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370422" "00369194" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370423" "00369195" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370424" "00369196" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370425" "00369197" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370426" "00369198" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370427" "00369199" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370428" "00369200" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370429" "00369201" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370430" "00369202" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370431" "00369203" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370432" "00369204" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370433" "00369205" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370434" "00369206" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370435" "00369207" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "panel"
"0000370436" "00369208" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "panel"
"0000370437" "00369209" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "panel"
"0000370438" "00369210" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "panel"
"0000370439" "00369211" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "panel"
"0000370440" "00369212" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000370441" "00369213" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000370442" "00369214" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "WES"
"0000370443" "00369215" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370444" "00369216" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370445" "00369217" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "Oculome"
"0000370446" "00369218" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "Oculome"
"0000370447" "00369219" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "Oculome"
"0000370448" "00369220" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370449" "00369221" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370450" "00369222" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370451" "00369223" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370452" "00369224" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370453" "00369225" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370454" "00369226" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370455" "00369227" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370456" "00369228" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370457" "00369229" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370458" "00369230" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370459" "00369231" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370460" "00369232" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370461" "00369233" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370462" "00369234" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370463" "00369235" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370464" "00369236" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370465" "00369237" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370466" "00369238" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370467" "00369239" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370468" "00369240" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370469" "00369241" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370470" "00369242" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370471" "00369243" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370472" "00369244" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370473" "00369245" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370474" "00369246" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370475" "00369247" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370476" "00369248" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370477" "00369249" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370478" "00369250" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370479" "00369251" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370480" "00369252" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370481" "00369253" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370482" "00369254" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370483" "00369255" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370484" "00369256" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370485" "00369257" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370486" "00369258" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370487" "00369259" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370488" "00369260" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370489" "00369261" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370490" "00369262" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370491" "00369263" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370492" "00369264" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370493" "00369265" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370494" "00369266" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370495" "00369267" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370496" "00369268" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370497" "00369269" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370498" "00369270" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370499" "00369271" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370500" "00369272" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370501" "00369273" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370502" "00369274" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370503" "00369275" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370504" "00369276" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370505" "00369277" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370506" "00369278" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370507" "00369279" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370508" "00369280" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370509" "00369281" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370510" "00369282" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370511" "00369283" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370512" "00369284" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370513" "00369285" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370514" "00369286" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370515" "00369287" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370516" "00369288" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370517" "00369289" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370518" "00369290" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "OTSP"
"0000370519" "00369291" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "OTSP"
"0000370520" "00369292" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "OTSP"
"0000370521" "00369293" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "OTSP"
"0000370522" "00369294" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "OTSP"
"0000370523" "00369295" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "OTSP"
"0000370524" "00369296" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "OTSP"
"0000370525" "00369297" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "OTSP"
"0000370526" "00369298" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "OTSP"
"0000370527" "00369299" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "OTSP"
"0000370528" "00369300" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "OTSP"
"0000370529" "00369301" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "OTSP"
"0000370530" "00369302" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "OTSP"
"0000370531" "00369303" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "OTSP"
"0000370532" "00369304" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "OTSP"
"0000370533" "00369305" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "OTSP"
"0000370534" "00369306" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "OTSP"
"0000370535" "00369307" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "OTSP"
"0000370536" "00369308" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "OTSP"
"0000370537" "00369309" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "OTSP"
"0000370538" "00369310" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "OTSP"
"0000370539" "00369311" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370540" "00369312" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370541" "00369313" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "WES"
"0000370542" "00369314" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "WES"
"0000370543" "00369315" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "TES"
"0000370544" "00369316" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370545" "00369317" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370546" "00369318" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370547" "00369319" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370548" "00369320" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370549" "00369321" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370550" "00369322" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370551" "00369323" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370552" "00369324" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370553" "00369325" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370554" "00369326" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370555" "00369327" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370556" "00369328" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370557" "00369329" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370558" "00369330" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370559" "00369331" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370560" "00369332" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370561" "00369333" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370562" "00369334" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000370563" "00369335" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370564" "00369336" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370565" "00369337" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370566" "00369338" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370567" "00369339" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370568" "00369340" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370569" "00369341" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370570" "00369342" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370571" "00369343" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370572" "00369344" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370573" "00369345" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370574" "00369346" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370575" "00369347" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370576" "00369348" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370577" "00369349" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370578" "00369350" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000370579" "00369351" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370580" "00369352" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370581" "00369353" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000370582" "00369354" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370583" "00369355" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370584" "00369356" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000370585" "00369357" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370586" "00369358" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370587" "00369359" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370588" "00369360" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370589" "00369361" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370590" "00369362" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370591" "00369363" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370592" "00369364" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370593" "00369365" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370594" "00369366" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370595" "00369367" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370596" "00369368" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370597" "00369369" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370598" "00369370" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370599" "00369371" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370600" "00369372" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370601" "00369373" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370602" "00369374" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370603" "00369375" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370604" "00369376" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370605" "00369377" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370606" "00369378" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370607" "00369379" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370608" "00369380" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370609" "00369381" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370610" "00369382" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000370611" "00369383" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000370612" "00369384" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000370613" "00369385" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370614" "00369386" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370615" "00369387" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370616" "00369388" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370617" "00369389" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370618" "00369390" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370619" "00369391" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370620" "00369392" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370621" "00369393" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370622" "00369394" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370623" "00369395" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370624" "00369396" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370625" "00369397" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370626" "00369398" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370627" "00369399" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370628" "00369400" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370629" "00369401" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370630" "00369402" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370631" "00369403" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370632" "00369404" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370633" "00369405" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370634" "00369406" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370635" "00369407" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370636" "00369408" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370637" "00369409" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370638" "00369410" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370639" "00369411" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370640" "00369412" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370641" "00369413" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370642" "00369414" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370643" "00369415" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370644" "00369416" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370645" "00369417" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370646" "00369418" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370647" "00369419" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370648" "00369420" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370649" "00369421" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370650" "00369422" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370651" "00369423" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370652" "00369424" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370653" "00369425" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370654" "00369426" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370655" "00369427" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370656" "00369428" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370657" "00369429" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370658" "00369430" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370659" "00369431" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370660" "00369432" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370661" "00369433" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370662" "00369434" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370663" "00369435" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370664" "00369436" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370665" "00369437" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370666" "00369438" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370667" "00369439" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370668" "00369440" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370669" "00369441" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370670" "00369442" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000370671" "00369443" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000370672" "00369444" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370673" "00369445" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370674" "00369446" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000370675" "00369447" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370676" "00369448" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370677" "00369449" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370678" "00369450" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370679" "00369451" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370680" "00369452" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370681" "00369453" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370682" "00369454" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370683" "00369455" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370684" "00369456" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370685" "00369457" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370686" "00369458" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370687" "00369459" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370688" "00369460" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370689" "00369461" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370690" "00369462" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370691" "00369463" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370692" "00369464" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370693" "00369465" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370694" "00369466" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370695" "00369467" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370696" "00369468" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370697" "00369469" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370698" "00369470" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370699" "00369471" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370700" "00369472" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370701" "00369473" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370702" "00369474" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370703" "00369475" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370704" "00369476" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370705" "00369477" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370706" "00369478" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370707" "00369479" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370708" "00369480" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370709" "00369481" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370710" "00369482" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370711" "00369483" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370712" "00369484" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370713" "00369485" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370714" "00369486" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370715" "00369487" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370716" "00369488" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370717" "00369489" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370718" "00369490" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370719" "00369491" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370720" "00369492" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370721" "00369493" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370722" "00369494" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370723" "00369495" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370724" "00369496" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370725" "00369497" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370726" "00369498" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370727" "00369499" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370728" "00369500" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370729" "00369501" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370730" "00369502" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370731" "00369503" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370732" "00369504" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370733" "00369505" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370734" "00369506" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370735" "00369507" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370736" "00369508" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370737" "00369509" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370738" "00369510" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370739" "00369511" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370740" "00369512" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370741" "00369513" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370742" "00369514" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370743" "00369515" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370744" "00369516" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370745" "00369517" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370746" "00369518" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370747" "00369519" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370748" "00369520" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370749" "00369521" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370750" "00369522" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370751" "00369523" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370752" "00369524" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370753" "00369525" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370754" "00369526" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370755" "00369527" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370756" "00369528" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370757" "00369529" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370758" "00369530" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370759" "00369531" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370760" "00369532" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370761" "00369533" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370762" "00369534" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370763" "00369535" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370764" "00369536" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370765" "00369537" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370766" "00369538" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370767" "00369539" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370768" "00369540" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370769" "00369541" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370770" "00369542" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370771" "00369543" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370772" "00369544" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370773" "00369545" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370774" "00369546" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370775" "00369547" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370776" "00369548" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370777" "00369549" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370778" "00369550" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370779" "00369551" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370780" "00369552" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370781" "00369553" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370782" "00369554" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370783" "00369555" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370784" "00369556" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" ""
"0000370785" "00369557" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370786" "00369558" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370787" "00369559" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370788" "00369560" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370789" "00369561" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370790" "00369562" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370791" "00369563" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370792" "00369564" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370793" "00369565" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370794" "00369566" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370795" "00369567" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370796" "00369568" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370797" "00369569" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370798" "00369570" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370799" "00369571" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370800" "00369572" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370801" "00369573" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370802" "00369574" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370803" "00369575" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370804" "00369576" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370805" "00369577" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370806" "00369578" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370807" "00369579" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370808" "00369580" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370809" "00369581" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370810" "00369582" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370811" "00369583" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370812" "00369584" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370813" "00369585" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370814" "00369586" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370815" "00369587" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370816" "00369588" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370817" "00369589" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370818" "00369590" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370819" "00369591" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370820" "00369592" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370821" "00369593" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370822" "00369594" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370823" "00369595" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370824" "00369596" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370825" "00369597" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370826" "00369598" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370827" "00369599" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370828" "00369600" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370829" "00369601" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370830" "00369602" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370831" "00369603" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370832" "00369604" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370833" "00369605" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370834" "00369606" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370835" "00369607" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370836" "00369608" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370837" "00369609" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370838" "00369610" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370839" "00369611" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370840" "00369612" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370841" "00369613" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370842" "00369614" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370843" "00369615" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370844" "00369616" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370845" "00369617" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370846" "00369618" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370847" "00369619" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370848" "00369620" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370849" "00369621" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370850" "00369622" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370851" "00369623" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370852" "00369624" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370853" "00369625" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370854" "00369626" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370855" "00369627" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370856" "00369628" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370857" "00369629" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370858" "00369630" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370859" "00369631" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370860" "00369632" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370861" "00369633" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370862" "00369634" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370863" "00369635" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370864" "00369636" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370865" "00369637" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370866" "00369638" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370867" "00369639" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370868" "00369640" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370869" "00369641" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370870" "00369642" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370871" "00369643" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370872" "00369644" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370873" "00369645" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370874" "00369646" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370875" "00369647" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370876" "00369648" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370877" "00369649" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370878" "00369650" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370879" "00369651" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370880" "00369652" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370881" "00369653" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370882" "00369654" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370883" "00369655" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370884" "00369656" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370885" "00369657" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370886" "00369658" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370887" "00369659" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370888" "00369660" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370889" "00369661" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370890" "00369662" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370891" "00369663" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370892" "00369664" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370893" "00369665" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370894" "00369666" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370895" "00369667" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370896" "00369668" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370897" "00369669" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370898" "00369670" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370899" "00369671" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370900" "00369672" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370901" "00369673" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370902" "00369674" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370903" "00369675" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370904" "00369676" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370905" "00369677" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370906" "00369678" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370907" "00369679" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370908" "00369680" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370909" "00369681" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370910" "00369682" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370911" "00369683" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370912" "00369684" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370913" "00369685" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370914" "00369686" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370915" "00369687" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370916" "00369688" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370917" "00369689" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370918" "00369690" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370919" "00369691" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370920" "00369692" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370921" "00369693" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370922" "00369694" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370923" "00369695" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370924" "00369696" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370925" "00369697" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370926" "00369698" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370927" "00369699" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370928" "00369700" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370929" "00369701" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370930" "00369702" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370931" "00369703" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370932" "00369704" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370933" "00369705" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370934" "00369706" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370935" "00369707" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370936" "00369708" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370937" "00369709" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370938" "00369710" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370939" "00369711" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370940" "00369712" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370941" "00369713" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370942" "00369714" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370943" "00369715" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370944" "00369716" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370945" "00369717" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370946" "00369718" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370947" "00369719" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370948" "00369720" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370949" "00369721" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000370950" "00369722" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000370951" "00369723" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000370952" "00369724" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000370953" "00369725" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000370954" "00369726" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000370955" "00369727" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000370956" "00369728" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "WES"
"0000370957" "00369729" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000370958" "00369730" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000370959" "00369731" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000370960" "00369732" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "WES"
"0000370961" "00369733" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000370962" "00369734" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ" "DNA" "" "Target_Eye_792_V2 chip"
"0000370963" "00369735" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ" "DNA" "" "Target_Eye_792_V2 chip"
"0000370964" "00369736" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ" "DNA" "" "Target_Eye_792_V2 chip"
"0000370965" "00369737" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ" "DNA" "" "Target_Eye_792_V2 chip"
"0000370966" "00369738" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ" "DNA" "" "Target_Eye_792_V2 chip"
"0000370967" "00369739" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ" "DNA" "" "Target_Eye_792_V2 chip"
"0000370968" "00369740" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ" "DNA" "" "Target_Eye_792_V2 chip"
"0000370969" "00369741" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ" "DNA" "" "Target_Eye_792_V2 chip"
"0000370970" "00369742" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ" "DNA" "" "Target_Eye_792_V2 chip"
"0000370971" "00369743" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ" "DNA" "" "Target_Eye_792_V2 chip"
"0000370972" "00369744" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ" "DNA" "" "Target_Eye_792_V2 chip"
"0000370973" "00369745" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ" "DNA" "" "Target_Eye_792_V2 chip"
"0000370974" "00369746" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000370975" "00369747" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000370976" "00369748" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000370977" "00369749" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000370978" "00369750" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000370979" "00369751" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000370980" "00369752" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000370981" "00369753" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000370982" "00369754" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000370983" "00369755" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000370984" "00369756" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000370985" "00369757" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000370986" "00369758" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000370987" "00369759" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000370988" "00369760" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000370989" "00369761" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000370990" "00369762" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000370991" "00369763" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000370992" "00369764" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000370993" "00369765" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000370994" "00369766" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000370995" "00369767" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000370996" "00369768" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000370997" "00369769" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000370998" "00369770" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000370999" "00369771" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000371000" "00369772" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000371001" "00369773" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000371002" "00369774" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000371003" "00369775" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000371004" "00369776" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000371005" "00369777" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000371006" "00369778" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000371007" "00369779" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000371008" "00369780" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000371009" "00369781" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000371010" "00369782" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000371011" "00369783" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000371012" "00369784" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000371013" "00369785" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000371014" "00369786" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000371015" "00369787" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000371016" "00369788" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000371017" "00369789" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000371018" "00369790" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000371019" "00369791" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000371020" "00369792" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000371021" "00369793" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000371022" "00369794" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000371023" "00369795" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000371024" "00369796" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000371025" "00369797" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000371026" "00369798" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000371027" "00369799" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000371028" "00369800" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000371029" "00369801" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000371030" "00369802" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000371031" "00369803" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000371032" "00369804" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000371033" "00369805" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000371034" "00369806" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000371035" "00369807" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000371036" "00369808" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000371037" "00369809" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000371038" "00369810" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000371039" "00369811" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000371040" "00369812" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000371041" "00369813" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000371042" "00369814" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000371043" "00369815" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000371044" "00369816" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000371045" "00369817" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000371046" "00369818" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000371047" "00369819" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000371048" "00369820" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000371049" "00369821" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000371050" "00369822" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000371051" "00369823" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000371052" "00369824" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000371053" "00369825" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000371054" "00369826" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000371055" "00369827" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000371056" "00369828" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000371057" "00369829" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000371058" "00369830" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000371059" "00369831" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000371060" "00369832" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000371061" "00369833" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000371062" "00369834" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000371063" "00369835" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000371064" "00369836" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000371065" "00369837" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000371066" "00369838" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000371067" "00369839" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000371068" "00369840" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000371069" "00369841" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000371070" "00369842" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000371071" "00369843" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000371072" "00369844" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000371073" "00369845" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000371074" "00369846" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000371075" "00369847" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000371076" "00369848" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000371077" "00369849" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000371078" "00369850" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000371079" "00369851" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000371080" "00369852" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000371081" "00369853" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000371082" "00369854" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000371083" "00369855" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000371084" "00369856" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000371085" "00369857" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000371086" "00369858" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000371087" "00369859" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000371088" "00369860" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000371089" "00369861" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000371090" "00369862" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000371091" "00369863" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000371092" "00369864" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000371093" "00369865" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000371094" "00369866" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "?" "DNA" "" ""
"0000371095" "00369867" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000371096" "00369868" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000371097" "00369869" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000371098" "00369870" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000371099" "00369871" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000371100" "00369872" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000371101" "00369873" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000371102" "00369874" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000371103" "00369875" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000371104" "00369876" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000371105" "00369877" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000371106" "00369878" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000371107" "00369879" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000371108" "00369880" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000371109" "00369881" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000371110" "00369882" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000371111" "00369883" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000371112" "00369884" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000371113" "00369885" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000371114" "00369886" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000371115" "00369887" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000371116" "00369888" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000371117" "00369889" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000371118" "00369890" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000371119" "00369891" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000371120" "00369892" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000371121" "00369893" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000371122" "00369894" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000371123" "00369895" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000371124" "00369896" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000371125" "00369897" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000371126" "00369898" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000371127" "00369899" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000371128" "00369900" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000371129" "00369901" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000371130" "00369902" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000371131" "00369903" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000371132" "00369904" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000371133" "00369905" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000371134" "00369906" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000371135" "00369907" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000371136" "00369908" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000371137" "00369909" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000371138" "00369910" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000371139" "00369911" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000371140" "00369912" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000371141" "00369913" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000371142" "00369914" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000371143" "00369915" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000371144" "00369916" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000371145" "00369917" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000371146" "00369918" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000371147" "00369919" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000371148" "00369920" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000371149" "00369921" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000371150" "00369922" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000371151" "00369923" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000371152" "00369924" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000371153" "00369925" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000371154" "00369926" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000371155" "00369927" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000371156" "00369928" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000371157" "00369929" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000371158" "00369930" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000371159" "00369931" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000371160" "00369932" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000371161" "00369933" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000371162" "00369934" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000371163" "00369935" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000371164" "00369936" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000371165" "00369937" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000371166" "00369938" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000371167" "00369939" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000371168" "00369940" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000371169" "00369941" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000371170" "00369942" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000371171" "00369943" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000371172" "00369944" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000371173" "00369945" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000371174" "00369946" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000371175" "00369947" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000371176" "00369948" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000371177" "00369949" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000371178" "00369950" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000371179" "00369951" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000371180" "00369952" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000371181" "00369953" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000371182" "00369954" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000371183" "00369955" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000371184" "00369956" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000371185" "00369957" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000371186" "00369958" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000371187" "00369959" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000371188" "00369960" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000371189" "00369961" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000371190" "00369962" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000371191" "00369963" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000371192" "00369964" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000371193" "00369965" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000371194" "00369966" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000371195" "00369967" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000371196" "00369968" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000371197" "00369969" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000371198" "00369970" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000371199" "00369971" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000371200" "00369972" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000371201" "00369973" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000371202" "00369974" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000371203" "00369975" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000371204" "00369976" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000371205" "00369977" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000371206" "00369978" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000371207" "00369979" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000371208" "00369980" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000371209" "00369981" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000371210" "00369982" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000371211" "00369983" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000371212" "00369984" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000371213" "00369985" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000371214" "00369986" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000371215" "00369987" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000371216" "00369988" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000371217" "00369989" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000371218" "00369990" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000371219" "00369991" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000371220" "00369992" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000371221" "00369993" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000371222" "00369994" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000371223" "00369995" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000371224" "00369996" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000371225" "00369997" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000371226" "00369998" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000371227" "00369999" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000371228" "00370000" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000371229" "00370001" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000371230" "00370002" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000371231" "00370003" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000371232" "00370004" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000371233" "00370005" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000371234" "00370006" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000371235" "00370007" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000371236" "00370008" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000371237" "00370009" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000371238" "00370010" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000371239" "00370011" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000371240" "00370012" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000371241" "00370013" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000371242" "00370014" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000371243" "00370015" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000371244" "00370016" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000371245" "00370017" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000371246" "00370018" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000371247" "00370019" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000371248" "00370020" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000371249" "00370021" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000371250" "00370022" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000371251" "00370023" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000371252" "00370024" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000371253" "00370025" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000371254" "00370026" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000371255" "00370027" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000371256" "00370028" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000371257" "00370029" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000371258" "00370030" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000371259" "00370031" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000371260" "00370032" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000371261" "00370033" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000371262" "00370034" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000371263" "00370035" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000371264" "00370036" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000371265" "00370037" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000371266" "00370038" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000371267" "00370039" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000371268" "00370040" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000371269" "00370041" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000371270" "00370042" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000371271" "00370043" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000371272" "00370044" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000371273" "00370045" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000371274" "00370046" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000371275" "00370047" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000371276" "00370048" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000371277" "00370049" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000371278" "00370050" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000371279" "00370051" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000371280" "00370052" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000371281" "00370053" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" "ABCA4"
"0000371282" "00370054" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" "ABCA4"
"0000371283" "00370055" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" "ABCA4"
"0000371284" "00370056" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" "ABCA4"
"0000371285" "00370057" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" "ABCA4"
"0000371286" "00370058" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" "ABCA4"
"0000371287" "00370059" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" "ABCA4"
"0000371288" "00370060" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" "ABCA4"
"0000371289" "00370061" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" "ABCA4"
"0000371290" "00370062" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" "ABCA4"
"0000371291" "00370063" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" "ABCA4"
"0000371292" "00370064" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" "ABCA4"
"0000371293" "00370065" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" "ABCA4"
"0000371294" "00370066" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" "ABCA4"
"0000371295" "00370067" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" "ABCA4"
"0000371296" "00370068" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" "ABCA4"
"0000371297" "00370069" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" "ABCA4"
"0000371298" "00370070" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" "ABCA4"
"0000371299" "00370071" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" "ABCA4"
"0000371300" "00370072" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" "ABCA4"
"0000371301" "00370073" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" "ABCA4"
"0000371302" "00370074" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" "ABCA4"
"0000371303" "00370075" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" "ABCA4"
"0000371304" "00370076" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" "ABCA4"
"0000371305" "00370077" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" "ABCA4"
"0000371306" "00370078" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" "ABCA4"
"0000371307" "00370079" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" "ABCA4"
"0000371308" "00370080" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" "ABCA4"
"0000371309" "00370081" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" "ABCA4"
"0000371310" "00370082" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" "ABCA4"
"0000371311" "00370083" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" "ABCA4"
"0000371312" "00370084" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" "ABCA4"
"0000371313" "00370085" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" "ABCA4"
"0000371314" "00370086" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" "ABCA4"
"0000371315" "00370087" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" "ABCA4"
"0000371316" "00370088" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" "ABCA4"
"0000371317" "00370089" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" "ABCA4"
"0000371318" "00370090" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" "ABCA4"
"0000371319" "00370091" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" "ABCA4"
"0000371320" "00370092" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" "ABCA4"
"0000371321" "00370093" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" "ABCA4"
"0000371322" "00370094" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" "ABCA4"
"0000371323" "00370095" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" "ABCA4"
"0000371324" "00370096" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" "ABCA4"
"0000371325" "00370097" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" "ABCA4"
"0000371326" "00370098" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "CRD panel"
"0000371327" "00370099" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "CRD panel"
"0000371328" "00370100" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "CRD panel"
"0000371329" "00370101" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "CRD panel"
"0000371330" "00370102" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "CRD panel"
"0000371331" "00370103" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "CRD panel"
"0000371332" "00370104" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "CRD panel"
"0000371333" "00370105" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" "ABCA4"
"0000371334" "00370106" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "CRD panel"
"0000371335" "00370107" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" "ABCA4"
"0000371336" "00370108" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "CRD panel"
"0000371337" "00370109" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "CRD panel"
"0000371338" "00370110" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" "ABCA4"
"0000371339" "00370111" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "ABCA4 Panel"
"0000371340" "00370112" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "CRD panel"
"0000371341" "00370113" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "CRD panel"
"0000371342" "00370114" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "CRD panel"
"0000371343" "00370115" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "CRD panel"
"0000371344" "00370116" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "STGDMD panel"
"0000371345" "00370117" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "CRD panel"
"0000371346" "00370118" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "STGDMD panel"
"0000371347" "00370119" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "STGDMD panel"
"0000371348" "00370120" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "STGDMD panel"
"0000371349" "00370121" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "STGDMD panel"
"0000371350" "00370122" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "ABCA4 Panel"
"0000371351" "00370123" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "STGDMD panel"
"0000371352" "00370124" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "STGDMD panel"
"0000371353" "00370125" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "ABCA4 Panel"
"0000371354" "00370126" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "CRD panel"
"0000371355" "00370127" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "CRD panel"
"0000371356" "00370128" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "ABCA4 Panel"
"0000371357" "00370129" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "ABCA4 Panel"
"0000371358" "00370130" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "ABCA4 Panel"
"0000371359" "00370131" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "ABCA4 Panel"
"0000371360" "00370132" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "ABCA4 Panel"
"0000371361" "00370133" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "ABCA4 Panel"
"0000371362" "00370134" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "STGDMD panel"
"0000371363" "00370135" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "STGDMD panel"
"0000371364" "00370136" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "ABCA4 Panel"
"0000371365" "00370137" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "STGDMD panel"
"0000371366" "00370138" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "ABCA4 Panel"
"0000371367" "00370139" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "CRD panel"
"0000371368" "00370140" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "ABCA4 Panel"
"0000371369" "00370141" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "CRD panel"
"0000371370" "00370142" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "STGDMD panel"
"0000371371" "00370143" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "ABCA4 Panel"
"0000371372" "00370144" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371373" "00370145" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "STGDMD panel"
"0000371374" "00370146" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "CRD panel"
"0000371375" "00370147" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "STGDMD panel"
"0000371376" "00370148" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "STGDMD panel"
"0000371377" "00370149" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "STGDMD panel"
"0000371378" "00370150" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "STGDMD panel"
"0000371379" "00370151" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "STGDMD panel"
"0000371380" "00370152" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "STGDMD panel"
"0000371381" "00370153" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "STGDMD panel"
"0000371382" "00370154" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "STGDMD panel"
"0000371383" "00370155" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "STGDMD panel"
"0000371384" "00370156" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "CRD panel"
"0000371385" "00370157" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "STGDMD panel"
"0000371386" "00370158" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "STGDMD panel"
"0000371387" "00370159" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "STGDMD panel"
"0000371388" "00370160" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "STGDMD panel"
"0000371389" "00370161" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "CRD panel"
"0000371390" "00370162" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "STGDMD panel"
"0000371391" "00370163" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "CRD panel"
"0000371392" "00370164" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "STGDMD panel"
"0000371393" "00370165" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "STGDMD panel"
"0000371394" "00370166" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "STGDMD panel"
"0000371395" "00370167" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "STGDMD panel"
"0000371396" "00370168" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "CRD panel"
"0000371397" "00370169" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "STGDMD panel"
"0000371398" "00370170" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "CRD panel"
"0000371399" "00370171" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "STGDMD panel"
"0000371400" "00370172" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "STGDMD panel"
"0000371401" "00370173" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "STGDMD panel"
"0000371402" "00370174" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "STGDMD panel"
"0000371403" "00370175" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "STGDMD panel"
"0000371404" "00370176" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "STGDMD panel"
"0000371405" "00370177" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "STGDMD panel"
"0000371406" "00370178" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "STGDMD panel"
"0000371407" "00370179" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "STGDMD panel"
"0000371408" "00370180" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "STGDMD panel"
"0000371409" "00370181" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "STGDMD panel"
"0000371410" "00370182" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "STGDMD panel"
"0000371411" "00370183" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "STGDMD panel"
"0000371412" "00370184" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "STGDMD panel"
"0000371413" "00370185" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "CRD panel"
"0000371414" "00370186" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "STGDMD panel"
"0000371415" "00370187" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "STGDMD panel"
"0000371416" "00370188" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "STGDMD panel"
"0000371417" "00370189" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371418" "00370190" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "CRD panel"
"0000371419" "00370191" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "STGDMD panel"
"0000371420" "00370192" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "STGDMD panel"
"0000371421" "00370193" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "STGDMD panel"
"0000371422" "00370194" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "STGDMD panel"
"0000371423" "00370195" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "ABCA4 Panel"
"0000371424" "00370196" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371425" "00370197" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371426" "00370198" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "STGDMD panel"
"0000371427" "00370199" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "STGDMD panel"
"0000371428" "00370200" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "STGDMD panel"
"0000371429" "00370201" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "STGDMD panel"
"0000371430" "00370202" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "STGDMD panel"
"0000371431" "00370203" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "STGDMD panel"
"0000371432" "00370204" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "STGDMD panel"
"0000371433" "00370205" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "STGDMD panel"
"0000371434" "00370206" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "STGDMD panel"
"0000371435" "00370207" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "CRD panel"
"0000371436" "00370208" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371437" "00370209" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "STGDMD panel"
"0000371438" "00370210" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "STGDMD panel"
"0000371439" "00370211" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "CRD panel"
"0000371440" "00370212" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371441" "00370213" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "STGDMD panel"
"0000371442" "00370214" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371443" "00370215" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "STGDMD panel"
"0000371444" "00370216" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "arRP panel"
"0000371445" "00370217" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371446" "00370218" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "STGDMD panel"
"0000371447" "00370219" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "STGDMD panel"
"0000371448" "00370220" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "STGDMD panel"
"0000371449" "00370221" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371450" "00370222" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371451" "00370223" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371452" "00370224" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371453" "00370225" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371454" "00370226" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "STGDMD panel"
"0000371455" "00370227" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "STGDMD panel"
"0000371456" "00370228" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "STGDMD panel"
"0000371457" "00370229" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "STGDMD panel"
"0000371458" "00370230" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "STGDMD panel"
"0000371459" "00370231" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "STGDMD panel"
"0000371460" "00370232" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "STGDMD panel"
"0000371461" "00370233" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "STGDMD panel"
"0000371462" "00370234" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "STGDMD panel"
"0000371463" "00370235" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "STGDMD panel"
"0000371464" "00370236" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "STGDMD panel"
"0000371465" "00370237" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "STGDMD panel"
"0000371466" "00370238" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "STGDMD panel"
"0000371467" "00370239" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371468" "00370240" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "STGDMD panel"
"0000371469" "00370241" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "STGDMD panel"
"0000371470" "00370242" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "STGDMD panel"
"0000371471" "00370243" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "STGDMD panel"
"0000371472" "00370244" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "STGDMD panel"
"0000371473" "00370245" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "CRD panel"
"0000371474" "00370246" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "CRD panel"
"0000371475" "00370247" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "STGDMD panel"
"0000371476" "00370248" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "STGDMD panel"
"0000371477" "00370249" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "STGDMD panel"
"0000371478" "00370250" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "arRP panel"
"0000371479" "00370251" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "STGDMD panel"
"0000371480" "00370252" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371481" "00370253" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "ABCA4 Panel"
"0000371482" "00370254" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "STGDMD panel"
"0000371483" "00370255" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "STGDMD panel"
"0000371484" "00370256" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371485" "00370257" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "CRD panel"
"0000371486" "00370258" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "ABCA4 Panel"
"0000371487" "00370259" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "arRP panel"
"0000371488" "00370260" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371489" "00370261" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371490" "00370262" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371491" "00370263" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371492" "00370264" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "STGDMD panel"
"0000371493" "00370265" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "STGDMD panel"
"0000371494" "00370266" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "STGDMD panel"
"0000371495" "00370267" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371496" "00370268" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371497" "00370269" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371498" "00370270" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371499" "00370271" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371500" "00370272" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371501" "00370273" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371502" "00370274" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "STGDMD panel"
"0000371503" "00370275" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "CRD panel"
"0000371504" "00370276" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "STGDMD panel"
"0000371505" "00370277" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "CRD panel"
"0000371506" "00370278" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "STGDMD panel"
"0000371507" "00370279" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371508" "00370280" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371509" "00370281" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371510" "00370282" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371511" "00370283" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371512" "00370284" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371513" "00370285" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371514" "00370286" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371515" "00370287" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371516" "00370288" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371517" "00370289" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "ABCA4 Panel"
"0000371518" "00370290" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "STGDMD panel"
"0000371519" "00370291" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "STGDMD panel"
"0000371520" "00370292" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371521" "00370293" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371522" "00370294" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "STGDMD panel"
"0000371523" "00370295" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "STGDMD panel"
"0000371524" "00370296" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "STGDMD panel"
"0000371525" "00370297" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "STGDMD panel"
"0000371526" "00370298" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "ABCA4 Panel"
"0000371527" "00370299" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371528" "00370300" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "arRP panel"
"0000371529" "00370301" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371530" "00370302" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371531" "00370303" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371532" "00370304" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371533" "00370305" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371534" "00370306" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "STGDMD panel"
"0000371535" "00370307" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371536" "00370308" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371537" "00370309" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371538" "00370310" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "STGDMD panel"
"0000371539" "00370311" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "arRP panel"
"0000371540" "00370312" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371541" "00370313" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "ABCA4 Panel"
"0000371542" "00370314" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371543" "00370315" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371544" "00370316" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371545" "00370317" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371546" "00370318" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371547" "00370319" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371548" "00370320" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371549" "00370321" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "STGDMD panel"
"0000371550" "00370322" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371551" "00370323" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "STGDMD panel"
"0000371552" "00370324" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371553" "00370325" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371554" "00370326" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371555" "00370327" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371556" "00370328" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371557" "00370329" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "STGDMD panel"
"0000371558" "00370330" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "STGDMD panel"
"0000371559" "00370331" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371560" "00370332" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371561" "00370333" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371562" "00370334" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371563" "00370335" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "STGDMD panel"
"0000371564" "00370336" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371565" "00370337" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371566" "00370338" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371567" "00370339" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371568" "00370340" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371569" "00370341" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "STGDMD panel"
"0000371570" "00370342" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371571" "00370343" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371572" "00370344" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "ABCA4 Panel"
"0000371573" "00370345" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "STGDMD panel"
"0000371574" "00370346" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371575" "00370347" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371576" "00370348" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "STGDMD panel"
"0000371577" "00370349" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "STGDMD panel"
"0000371578" "00370350" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371579" "00370351" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371580" "00370352" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "STGDMD panel"
"0000371581" "00370353" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "STGDMD panel"
"0000371582" "00370354" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "STGDMD panel"
"0000371583" "00370355" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "STGDMD panel"
"0000371584" "00370356" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371585" "00370357" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "STGDMD panel"
"0000371586" "00370358" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "STGDMD panel"
"0000371587" "00370359" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "STGDMD panel"
"0000371588" "00370360" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371589" "00370361" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "STGDMD panel"
"0000371590" "00370362" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "ABCA4 Panel"
"0000371591" "00370363" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371592" "00370364" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "STGDMD panel"
"0000371593" "00370365" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371594" "00370366" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371595" "00370367" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "ABCA4 Panel"
"0000371596" "00370368" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "STGDMD panel"
"0000371597" "00370369" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371598" "00370370" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371599" "00370371" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371600" "00370372" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371601" "00370373" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "STGDMD panel"
"0000371602" "00370374" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371603" "00370375" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371604" "00370376" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371605" "00370377" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "arRP panel"
"0000371606" "00370378" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371607" "00370379" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371608" "00370380" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371609" "00370381" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371610" "00370382" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371611" "00370383" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371612" "00370384" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371613" "00370385" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371614" "00370386" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "STGDMD panel"
"0000371615" "00370387" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371616" "00370388" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371617" "00370389" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371618" "00370390" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371619" "00370391" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371620" "00370392" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371621" "00370393" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "STGDMD panel"
"0000371622" "00370394" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371623" "00370395" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371624" "00370396" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371625" "00370397" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371626" "00370398" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371627" "00370399" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371628" "00370400" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371629" "00370401" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371630" "00370402" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "STGDMD panel"
"0000371631" "00370403" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "STGDMD panel"
"0000371632" "00370404" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371633" "00370405" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371634" "00370406" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371635" "00370407" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371636" "00370408" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371637" "00370409" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371638" "00370410" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371639" "00370411" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371640" "00370412" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371641" "00370413" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371642" "00370414" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371643" "00370415" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371644" "00370416" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "STGDMD panel"
"0000371645" "00370417" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "STGDMD panel"
"0000371646" "00370418" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "STGDMD panel"
"0000371647" "00370419" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371648" "00370420" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371649" "00370421" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371650" "00370422" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371651" "00370423" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371652" "00370424" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371653" "00370425" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371654" "00370426" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371655" "00370427" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371656" "00370428" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371657" "00370429" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371658" "00370430" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371659" "00370431" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371660" "00370432" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371661" "00370433" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "STGDMD panel"
"0000371662" "00370434" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "STGDMD panel"
"0000371663" "00370435" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371664" "00370436" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371665" "00370437" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371666" "00370438" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371667" "00370439" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371668" "00370440" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "STGDMD panel"
"0000371669" "00370441" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371670" "00370442" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371671" "00370443" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371672" "00370444" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371673" "00370445" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371674" "00370446" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371675" "00370447" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371676" "00370448" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371677" "00370449" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371678" "00370450" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371679" "00370451" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371680" "00370452" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371681" "00370453" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371682" "00370454" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371683" "00370455" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "STGDMD panel"
"0000371684" "00370456" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "ABCA4 Panel"
"0000371685" "00370457" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "STGDMD panel"
"0000371686" "00370458" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "STGDMD panel"
"0000371687" "00370459" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "STGDMD panel"
"0000371688" "00370460" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "STGDMD panel"
"0000371689" "00370461" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "ABCA4 Panel"
"0000371690" "00370462" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "STGDMD panel"
"0000371691" "00370463" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371692" "00370464" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "STGDMD panel"
"0000371693" "00370465" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371694" "00370466" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371695" "00370467" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "STGDMD panel"
"0000371696" "00370468" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "STGDMD panel"
"0000371697" "00370469" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371698" "00370470" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371699" "00370471" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371700" "00370472" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "STGDMD panel"
"0000371701" "00370473" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371702" "00370474" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371703" "00370475" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371704" "00370476" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371705" "00370477" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371706" "00370478" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371707" "00370479" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371708" "00370480" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371709" "00370481" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "arRP panel"
"0000371710" "00370482" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "STGDMD panel"
"0000371711" "00370483" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "STGDMD panel"
"0000371712" "00370484" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371713" "00370485" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "STGDMD panel"
"0000371714" "00370486" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "STGDMD panel"
"0000371715" "00370487" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "STGDMD panel"
"0000371716" "00370488" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371717" "00370489" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371718" "00370490" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371719" "00370491" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371720" "00370492" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371721" "00370493" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371722" "00370494" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371723" "00370495" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371724" "00370496" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371725" "00370497" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371726" "00370498" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371727" "00370499" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371728" "00370500" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371729" "00370501" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371730" "00370502" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "IRD panel"
"0000371731" "00370503" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "STGDMD panel"
"0000371732" "00370504" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "STGDMD panel"
"0000371733" "00370505" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "STGDMD panel"
"0000371734" "00370506" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "STGDMD panel"
"0000371735" "00370507" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000371736" "00370508" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000371737" "00370509" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000371738" "00370510" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000371739" "00370511" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000371740" "00370512" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000371741" "00370513" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000371742" "00370514" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000371743" "00370515" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000371744" "00370516" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000371745" "00370517" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000371746" "00370518" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000371747" "00370519" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000371748" "00370520" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000371749" "00370521" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000371750" "00370522" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000371751" "00370523" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000371752" "00370524" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000371753" "00370525" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000371754" "00370526" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ" "DNA" "" "Gene Chip"
"0000371755" "00370527" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000371756" "00370528" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000371757" "00370529" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ" "DNA" "" "Gene Chip"
"0000371758" "00370530" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000371759" "00370531" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000371760" "00370532" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000371761" "00370533" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000371762" "00370534" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000371763" "00370535" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000371764" "00370536" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000371765" "00370537" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000371766" "00370538" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000371767" "00370539" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ" "DNA" "" "Gene Chip"
"0000371768" "00370540" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ" "DNA" "" "Gene Chip"
"0000371769" "00370541" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000371770" "00370542" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000371771" "00370543" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000371772" "00370544" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000371773" "00370545" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000371774" "00370546" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000371775" "00370547" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000371776" "00370548" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000371777" "00370549" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000371778" "00370550" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000371779" "00370551" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000371780" "00370552" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000371781" "00370553" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000371782" "00370554" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000371783" "00370555" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000371784" "00370556" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000371785" "00370557" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000371786" "00370558" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000371787" "00370559" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000371788" "00370560" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000371789" "00370561" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000371790" "00370562" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000371791" "00370563" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000371792" "00370564" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000371793" "00370565" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000371794" "00370566" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000371795" "00370567" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000371796" "00370568" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000371797" "00370569" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000371798" "00370570" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000371799" "00370571" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000371800" "00370572" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000371801" "00370573" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ" "DNA" "" "Gene Chip"
"0000371802" "00370574" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000371803" "00370575" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000371804" "00370576" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000371805" "00370577" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000371806" "00370578" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000371807" "00370579" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000371808" "00370580" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000371809" "00370581" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000371810" "00370582" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000371811" "00370583" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000371812" "00370584" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000371813" "00370585" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000371814" "00370586" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000371815" "00370587" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000371816" "00370588" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000371817" "00370589" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000371818" "00370590" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000371819" "00370591" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000371820" "00370592" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000371821" "00370593" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000371822" "00370594" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000371823" "00370595" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000371824" "00370596" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000371825" "00370597" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000371826" "00370598" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000371827" "00370599" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000371828" "00370600" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000371829" "00370601" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000371830" "00370602" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000371831" "00370603" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000371832" "00370604" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000371833" "00370605" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000371834" "00370606" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000371835" "00370607" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000371836" "00370608" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000371837" "00370609" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000371838" "00370610" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000371839" "00370611" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000371840" "00370612" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000371841" "00370613" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ" "DNA" "" "Gene Chip"
"0000371842" "00370614" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000371843" "00370615" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ" "DNA" "" "Gene Chip"
"0000371844" "00370616" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000371845" "00370617" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000371846" "00370618" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000371847" "00370619" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000371848" "00370620" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000371849" "00370621" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000371850" "00370622" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000371851" "00370623" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000371852" "00370624" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000371853" "00370625" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000371854" "00370626" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000371855" "00370627" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000371856" "00370628" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000371857" "00370629" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000371858" "00370630" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000371859" "00370631" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000371860" "00370632" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000371861" "00370633" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000371862" "00370634" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000371863" "00370635" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000371864" "00370636" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000371865" "00370637" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000371866" "00370638" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000371867" "00370639" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000371868" "00370640" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000371869" "00370641" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000371870" "00370642" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000371871" "00370643" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000371872" "00370644" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000371873" "00370645" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ" "DNA" "" "Gene Chip"
"0000371874" "00370646" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000371875" "00370647" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000371876" "00370648" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000371877" "00370649" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000371878" "00370650" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000371879" "00370651" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000371880" "00370652" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000371881" "00370653" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000371882" "00370654" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000371883" "00370655" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000371884" "00370656" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000371885" "00370657" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000371886" "00370658" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000371887" "00370659" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000371888" "00370660" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000371889" "00370661" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000371890" "00370662" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000371891" "00370663" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000371892" "00370664" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000371893" "00370665" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000371894" "00370666" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000371895" "00370667" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000371896" "00370668" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000371897" "00370669" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ" "DNA" "" "Gene Chip"
"0000371898" "00370670" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000371899" "00370671" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000371900" "00370672" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000371901" "00370673" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ" "DNA" "" "Gene Chip"
"0000371902" "00370674" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000371903" "00370675" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000371904" "00370676" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000371905" "00370677" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000371906" "00370678" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000371907" "00370679" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000371908" "00370680" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000371909" "00370681" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000371910" "00370682" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000371911" "00370683" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000371912" "00370684" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000371913" "00370685" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000371914" "00370686" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000371915" "00370687" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ" "DNA" "" "Gene Chip"
"0000371916" "00370688" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000371917" "00370689" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000371918" "00370690" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000371919" "00370691" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000371920" "00370692" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000371921" "00370693" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000371922" "00370694" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000371923" "00370695" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000371924" "00370696" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000371925" "00370697" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000371926" "00370698" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000371927" "00370699" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000371928" "00370700" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000371929" "00370701" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000371930" "00370702" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000371931" "00370703" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000371932" "00370704" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000371933" "00370705" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000371934" "00370706" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000371935" "00370707" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000371936" "00370708" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000371937" "00370709" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000371938" "00370710" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000371939" "00370711" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000371940" "00370712" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000371941" "00370713" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000371942" "00370714" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000371943" "00370715" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000371944" "00370716" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000371945" "00370717" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000371946" "00370718" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000371947" "00370719" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000371948" "00370720" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000371949" "00370721" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000371950" "00370722" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000371951" "00370723" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000371952" "00370724" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000371953" "00370725" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000371954" "00370726" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000371955" "00370727" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000371956" "00370728" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000371957" "00370729" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000371958" "00370730" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000371959" "00370731" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000371960" "00370732" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000371961" "00370733" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000371962" "00370734" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000371963" "00370735" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000371964" "00370736" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000371965" "00370737" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000371966" "00370738" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000371967" "00370739" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000371968" "00370740" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000371969" "00370741" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000371970" "00370742" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000371971" "00370743" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000371972" "00370744" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000371973" "00370745" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000371974" "00370746" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000371975" "00370747" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000371976" "00370748" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000371977" "00370749" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000371978" "00370750" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000371979" "00370751" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000371980" "00370752" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000371981" "00370753" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000371982" "00370754" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000371983" "00370755" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000371984" "00370756" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000371985" "00370757" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000371986" "00370758" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000371987" "00370759" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000371988" "00370760" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000371989" "00370761" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000371990" "00370762" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000371991" "00370763" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000371992" "00370764" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000371993" "00370765" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000371994" "00370766" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000371995" "00370767" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000371996" "00370768" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000371997" "00370769" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000371998" "00370770" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000371999" "00370771" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372000" "00370772" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372001" "00370773" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372002" "00370774" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372003" "00370775" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372004" "00370776" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372005" "00370777" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372006" "00370778" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372007" "00370779" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372008" "00370780" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372009" "00370781" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372010" "00370782" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372011" "00370783" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372012" "00370784" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372013" "00370785" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372014" "00370786" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372015" "00370787" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372016" "00370788" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372017" "00370789" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372018" "00370790" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372019" "00370791" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372020" "00370792" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372021" "00370793" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372022" "00370794" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372023" "00370795" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372024" "00370796" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372025" "00370797" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372026" "00370798" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372027" "00370799" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372028" "00370800" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372029" "00370801" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372030" "00370802" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372031" "00370803" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372032" "00370804" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372033" "00370805" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372034" "00370806" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372035" "00370807" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372036" "00370808" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372037" "00370809" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372038" "00370810" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372039" "00370811" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372040" "00370812" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372041" "00370813" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372042" "00370814" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372043" "00370815" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372044" "00370816" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372045" "00370817" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372046" "00370818" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372047" "00370819" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372048" "00370820" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372049" "00370821" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372050" "00370822" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372051" "00370823" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372052" "00370824" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372053" "00370825" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372054" "00370826" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372055" "00370827" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372056" "00370828" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372057" "00370829" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372058" "00370830" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372059" "00370831" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372060" "00370832" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372061" "00370833" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372062" "00370834" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ" "DNA" "" "Gene Chip"
"0000372063" "00370835" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372064" "00370836" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372065" "00370837" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372066" "00370838" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372067" "00370839" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372068" "00370840" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372069" "00370841" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372070" "00370842" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372071" "00370843" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372072" "00370844" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372073" "00370845" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372074" "00370846" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372075" "00370847" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372076" "00370848" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372077" "00370849" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372078" "00370850" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372079" "00370851" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372080" "00370852" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372081" "00370853" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372082" "00370854" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372083" "00370855" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372084" "00370856" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372085" "00370857" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372086" "00370858" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372087" "00370859" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372088" "00370860" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372089" "00370861" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372090" "00370862" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372091" "00370863" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372092" "00370864" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372093" "00370865" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372094" "00370866" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372095" "00370867" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372096" "00370868" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372097" "00370869" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372098" "00370870" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372099" "00370871" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372100" "00370872" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372101" "00370873" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372102" "00370874" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372103" "00370875" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372104" "00370876" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372105" "00370877" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372106" "00370878" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372107" "00370879" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372108" "00370880" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372109" "00370881" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372110" "00370882" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372111" "00370883" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ" "DNA" "" "Gene Chip"
"0000372112" "00370884" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372113" "00370885" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372114" "00370886" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372115" "00370887" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372116" "00370888" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372117" "00370889" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372118" "00370890" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372119" "00370891" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372120" "00370892" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372121" "00370893" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372122" "00370894" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372123" "00370895" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372124" "00370896" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ" "DNA" "" "Gene Chip"
"0000372125" "00370897" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372126" "00370898" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372127" "00370899" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372128" "00370900" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372129" "00370901" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372130" "00370902" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372131" "00370903" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372132" "00370904" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372133" "00370905" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372134" "00370906" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372135" "00370907" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372136" "00370908" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372137" "00370909" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372138" "00370910" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372139" "00370911" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372140" "00370912" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372141" "00370913" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372142" "00370914" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372143" "00370915" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372144" "00370916" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372145" "00370917" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372146" "00370918" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372147" "00370919" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372148" "00370920" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372149" "00370921" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372150" "00370922" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372151" "00370923" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372152" "00370924" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372153" "00370925" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372154" "00370926" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372155" "00370927" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372156" "00370928" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372157" "00370929" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372158" "00370930" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372159" "00370931" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372160" "00370932" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372161" "00370933" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372162" "00370934" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372163" "00370935" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372164" "00370936" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372165" "00370937" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372166" "00370938" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372167" "00370939" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372168" "00370940" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372169" "00370941" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372170" "00370942" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372171" "00370943" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372172" "00370944" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372173" "00370945" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372174" "00370946" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372175" "00370947" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372176" "00370948" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372177" "00370949" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372178" "00370950" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372179" "00370951" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372180" "00370952" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372181" "00370953" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372182" "00370954" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372183" "00370955" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372184" "00370956" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372185" "00370957" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372186" "00370958" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372187" "00370959" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372188" "00370960" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372189" "00370961" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372190" "00370962" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372191" "00370963" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372192" "00370964" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372193" "00370965" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372194" "00370966" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372195" "00370967" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372196" "00370968" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372197" "00370969" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372198" "00370970" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372199" "00370971" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372200" "00370972" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372201" "00370973" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372202" "00370974" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372203" "00370975" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372204" "00370976" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372205" "00370977" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372206" "00370978" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372207" "00370979" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372208" "00370980" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372209" "00370981" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372210" "00370982" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372211" "00370983" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372212" "00370984" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372213" "00370985" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372214" "00370986" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372215" "00370987" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372216" "00370988" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372217" "00370989" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372218" "00370990" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372219" "00370991" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372220" "00370992" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372221" "00370993" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372222" "00370994" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372223" "00370995" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372224" "00370996" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372225" "00370997" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372226" "00370998" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372227" "00370999" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372228" "00371000" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372229" "00371001" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372230" "00371002" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372231" "00371003" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372232" "00371004" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372233" "00371005" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372234" "00371006" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372235" "00371007" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372236" "00371008" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372237" "00371009" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372238" "00371010" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372239" "00371011" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372240" "00371012" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372241" "00371013" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372242" "00371014" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372243" "00371015" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372244" "00371016" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372245" "00371017" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372246" "00371018" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372247" "00371019" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372248" "00371020" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372249" "00371021" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372250" "00371022" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372251" "00371023" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372252" "00371024" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372253" "00371025" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372254" "00371026" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372255" "00371027" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372256" "00371028" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372257" "00371029" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372258" "00371030" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372259" "00371031" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372260" "00371032" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372261" "00371033" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372262" "00371034" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372263" "00371035" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372264" "00371036" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372265" "00371037" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372266" "00371038" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372267" "00371039" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372268" "00371040" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372269" "00371041" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372270" "00371042" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372271" "00371043" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372272" "00371044" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372273" "00371045" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372274" "00371046" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372275" "00371047" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372276" "00371048" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372277" "00371049" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372278" "00371050" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372279" "00371051" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372280" "00371052" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372281" "00371053" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372282" "00371054" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372283" "00371055" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372284" "00371056" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372285" "00371057" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372286" "00371058" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372287" "00371059" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372288" "00371060" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372289" "00371061" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372290" "00371062" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372291" "00371063" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372292" "00371064" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372293" "00371065" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372294" "00371066" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372295" "00371067" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372296" "00371068" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372297" "00371069" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372298" "00371070" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372299" "00371071" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372300" "00371072" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372301" "00371073" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372302" "00371074" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372303" "00371075" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372304" "00371076" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372305" "00371077" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372306" "00371078" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372307" "00371079" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372308" "00371080" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372309" "00371081" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372310" "00371082" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372311" "00371083" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372312" "00371084" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372313" "00371085" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372314" "00371086" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372315" "00371087" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372316" "00371088" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372317" "00371089" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372318" "00371090" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372319" "00371091" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372320" "00371092" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372321" "00371093" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372322" "00371094" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372323" "00371095" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372324" "00371096" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372325" "00371097" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372326" "00371098" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372327" "00371099" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372328" "00371100" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372329" "00371101" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372330" "00371102" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372331" "00371103" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372332" "00371104" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372333" "00371105" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372334" "00371106" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372335" "00371107" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ" "DNA" "" "Gene Chip"
"0000372336" "00371108" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372337" "00371109" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372338" "00371110" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372339" "00371111" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372340" "00371112" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372341" "00371113" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372342" "00371114" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372343" "00371115" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372344" "00371116" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372345" "00371117" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372346" "00371118" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372347" "00371119" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372348" "00371120" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372349" "00371121" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372350" "00371122" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372351" "00371123" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372352" "00371124" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372353" "00371125" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372354" "00371126" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372355" "00371127" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372356" "00371128" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372357" "00371129" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372358" "00371130" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372359" "00371131" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372360" "00371132" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372361" "00371133" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372362" "00371134" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372363" "00371135" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372364" "00371136" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372365" "00371137" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372366" "00371138" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372367" "00371139" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372368" "00371140" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372369" "00371141" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372370" "00371142" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372371" "00371143" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372372" "00371144" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372373" "00371145" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372374" "00371146" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372375" "00371147" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372376" "00371148" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372377" "00371149" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372378" "00371150" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372379" "00371151" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372380" "00371152" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372381" "00371153" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372382" "00371154" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372383" "00371155" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372384" "00371156" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372385" "00371157" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372386" "00371158" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372387" "00371159" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372388" "00371160" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372389" "00371161" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372390" "00371162" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372391" "00371163" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372392" "00371164" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372393" "00371165" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372394" "00371166" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372395" "00371167" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372396" "00371168" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372397" "00371169" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372398" "00371170" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372399" "00371171" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372400" "00371172" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372401" "00371173" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372402" "00371174" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372403" "00371175" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372404" "00371176" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372405" "00371177" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372406" "00371178" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372407" "00371179" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372408" "00371180" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372409" "00371181" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372410" "00371182" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372411" "00371183" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372412" "00371184" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372413" "00371185" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372414" "00371186" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372415" "00371187" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372416" "00371188" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372417" "00371189" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372418" "00371190" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372419" "00371191" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372420" "00371192" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372421" "00371193" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372422" "00371194" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372423" "00371195" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372424" "00371196" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372425" "00371197" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372426" "00371198" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372427" "00371199" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372428" "00371200" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372429" "00371201" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372430" "00371202" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372431" "00371203" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372432" "00371204" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372433" "00371205" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372434" "00371206" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372435" "00371207" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372436" "00371208" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372437" "00371209" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372438" "00371210" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372439" "00371211" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372440" "00371212" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ" "DNA" "" "Gene Chip"
"0000372441" "00371213" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372442" "00371214" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372443" "00371215" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372444" "00371216" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372445" "00371217" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372446" "00371218" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372447" "00371219" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ" "DNA" "" "Gene Chip"
"0000372448" "00371220" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372449" "00371221" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372450" "00371222" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372451" "00371223" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372452" "00371224" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372453" "00371225" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372454" "00371226" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372455" "00371227" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372456" "00371228" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372457" "00371229" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372458" "00371230" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372459" "00371231" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ" "DNA" "" "Gene Chip"
"0000372460" "00371232" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372461" "00371233" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372462" "00371234" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372463" "00371235" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372464" "00371236" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372465" "00371237" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ" "DNA" "" "Gene Chip"
"0000372466" "00371238" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372467" "00371239" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372468" "00371240" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372469" "00371241" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372470" "00371242" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372471" "00371243" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372472" "00371244" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372473" "00371245" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372474" "00371246" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372475" "00371247" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372476" "00371248" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372477" "00371249" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372478" "00371250" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372479" "00371251" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ" "DNA" "" "Gene Chip"
"0000372480" "00371252" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372481" "00371253" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372482" "00371254" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372483" "00371255" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372484" "00371256" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372485" "00371257" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372486" "00371258" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372487" "00371259" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372488" "00371260" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372489" "00371261" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372490" "00371262" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372491" "00371263" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372492" "00371264" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372493" "00371265" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372494" "00371266" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372495" "00371267" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372496" "00371268" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372497" "00371269" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372498" "00371270" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372499" "00371271" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372500" "00371272" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372501" "00371273" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372502" "00371274" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372503" "00371275" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372504" "00371276" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372505" "00371277" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372506" "00371278" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372507" "00371279" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372508" "00371280" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372509" "00371281" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372510" "00371282" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372511" "00371283" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372512" "00371284" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372513" "00371285" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ" "DNA" "" "Gene Chip"
"0000372514" "00371286" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372515" "00371287" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372516" "00371288" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372517" "00371289" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372518" "00371290" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372519" "00371291" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372520" "00371292" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372521" "00371293" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372522" "00371294" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372523" "00371295" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372524" "00371296" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372525" "00371297" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372526" "00371298" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372527" "00371299" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372528" "00371300" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372529" "00371301" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372530" "00371302" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372531" "00371303" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372532" "00371304" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372533" "00371305" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372534" "00371306" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372535" "00371307" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372536" "00371308" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372537" "00371309" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372538" "00371310" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372539" "00371311" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372540" "00371312" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372541" "00371313" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372542" "00371314" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372543" "00371315" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372544" "00371316" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372545" "00371317" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372546" "00371318" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372547" "00371319" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372548" "00371320" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372549" "00371321" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372550" "00371322" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372551" "00371323" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372552" "00371324" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372553" "00371325" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372554" "00371326" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372555" "00371327" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372556" "00371328" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372557" "00371329" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372558" "00371330" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372559" "00371331" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372560" "00371332" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372561" "00371333" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372562" "00371334" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ" "DNA" "" "Gene Chip"
"0000372563" "00371335" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372564" "00371336" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372565" "00371337" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372566" "00371338" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372567" "00371339" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372568" "00371340" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372569" "00371341" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372570" "00371342" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372571" "00371343" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372572" "00371344" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372573" "00371345" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ" "DNA" "" "Gene Chip"
"0000372574" "00371346" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372575" "00371347" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ" "DNA" "" "Gene Chip"
"0000372576" "00371348" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372577" "00371349" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372578" "00371350" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372579" "00371351" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372580" "00371352" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372581" "00371353" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372582" "00371354" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372583" "00371355" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372584" "00371356" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372585" "00371357" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372586" "00371358" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372587" "00371359" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372588" "00371360" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ" "DNA" "" "Gene Chip"
"0000372589" "00371361" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372590" "00371362" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372591" "00371363" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372592" "00371364" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372593" "00371365" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372594" "00371366" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ" "DNA" "" "Gene Chip"
"0000372595" "00371367" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372596" "00371368" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372597" "00371369" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ" "DNA" "" "Gene Chip"
"0000372598" "00371370" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372599" "00371371" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372600" "00371372" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372601" "00371373" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372602" "00371374" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372603" "00371375" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372604" "00371376" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372605" "00371377" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372606" "00371378" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372607" "00371379" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372608" "00371380" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ" "DNA" "" "Gene Chip"
"0000372609" "00371381" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372610" "00371382" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372611" "00371383" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372612" "00371384" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372613" "00371385" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ" "DNA" "" "Gene Chip"
"0000372614" "00371386" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372615" "00371387" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372616" "00371388" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372617" "00371389" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ" "DNA" "" "Gene Chip"
"0000372618" "00371390" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372619" "00371391" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372620" "00371392" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372621" "00371393" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372622" "00371394" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372623" "00371395" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372624" "00371396" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372625" "00371397" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372626" "00371398" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372627" "00371399" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372628" "00371400" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372629" "00371401" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372630" "00371402" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372631" "00371403" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372632" "00371404" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372633" "00371405" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372634" "00371406" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372635" "00371407" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372636" "00371408" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372637" "00371409" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372638" "00371410" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372639" "00371411" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372640" "00371412" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372641" "00371413" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372642" "00371414" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372643" "00371415" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372644" "00371416" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372645" "00371417" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372646" "00371418" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372647" "00371419" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372648" "00371420" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372649" "00371421" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372650" "00371422" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372651" "00371423" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372652" "00371424" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372653" "00371425" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372654" "00371426" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372655" "00371427" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372656" "00371428" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372657" "00371429" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ" "DNA" "" "Gene Chip"
"0000372658" "00371430" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372659" "00371431" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372660" "00371432" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372661" "00371433" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372662" "00371434" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372663" "00371435" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372664" "00371436" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ" "DNA" "" "Gene Chip"
"0000372665" "00371437" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372666" "00371438" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372667" "00371439" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372668" "00371440" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372669" "00371441" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372670" "00371442" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372671" "00371443" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372672" "00371444" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372673" "00371445" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372674" "00371446" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372675" "00371447" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372676" "00371448" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372677" "00371449" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372678" "00371450" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372679" "00371451" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372680" "00371452" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ" "DNA" "" "Gene Chip"
"0000372681" "00371453" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372682" "00371454" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372683" "00371455" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372684" "00371456" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372685" "00371457" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372686" "00371458" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372687" "00371459" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372688" "00371460" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372689" "00371461" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372690" "00371462" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372691" "00371463" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372692" "00371464" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372693" "00371465" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372694" "00371466" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372695" "00371467" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372696" "00371468" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372697" "00371469" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372698" "00371470" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372699" "00371471" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372700" "00371472" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372701" "00371473" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372702" "00371474" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372703" "00371475" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372704" "00371476" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372705" "00371477" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ" "DNA" "" "Gene Chip"
"0000372706" "00371478" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372707" "00371479" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372708" "00371480" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372709" "00371481" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372710" "00371482" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372711" "00371483" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372712" "00371484" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372713" "00371485" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372714" "00371486" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372715" "00371487" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372716" "00371488" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ" "DNA" "" "Gene Chip"
"0000372717" "00371489" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372718" "00371490" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372719" "00371491" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372720" "00371492" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372721" "00371493" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372722" "00371494" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372723" "00371495" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372724" "00371496" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372725" "00371497" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ" "DNA" "" "Gene Chip"
"0000372726" "00371498" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372727" "00371499" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372728" "00371500" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372729" "00371501" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372730" "00371502" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372731" "00371503" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372732" "00371504" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372733" "00371505" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372734" "00371506" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372735" "00371507" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ" "DNA" "" "Gene Chip"
"0000372736" "00371508" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372737" "00371509" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372738" "00371510" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ" "DNA" "" "Gene Chip"
"0000372739" "00371511" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372740" "00371512" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372741" "00371513" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372742" "00371514" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ" "DNA" "" "Gene Chip"
"0000372743" "00371515" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ" "DNA" "" "Gene Chip"
"0000372744" "00371516" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372745" "00371517" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372746" "00371518" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ" "DNA" "" "Gene Chip"
"0000372747" "00371519" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372748" "00371520" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ" "DNA" "" "Gene Chip"
"0000372749" "00371521" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372750" "00371522" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ" "DNA" "" "Gene Chip"
"0000372751" "00371523" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372752" "00371524" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372753" "00371525" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372754" "00371526" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ" "DNA" "" "Gene Chip"
"0000372755" "00371527" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372756" "00371528" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372757" "00371529" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372758" "00371530" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372759" "00371531" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372760" "00371532" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ" "DNA" "" "Gene Chip"
"0000372761" "00371533" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372762" "00371534" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372763" "00371535" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372764" "00371536" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372765" "00371537" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372766" "00371538" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372767" "00371539" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372768" "00371540" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372769" "00371541" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ" "DNA" "" "Gene Chip"
"0000372770" "00371542" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372771" "00371543" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ" "DNA" "" "Gene Chip"
"0000372772" "00371544" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372773" "00371545" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372774" "00371546" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372775" "00371547" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372776" "00371548" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372777" "00371549" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372778" "00371550" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372779" "00371551" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372780" "00371552" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372781" "00371553" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372782" "00371554" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372783" "00371555" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ" "DNA" "" "Gene Chip"
"0000372784" "00371556" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372785" "00371557" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ" "DNA" "" "Gene Chip"
"0000372786" "00371558" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372787" "00371559" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372788" "00371560" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ" "DNA" "" "Gene Chip"
"0000372789" "00371561" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372790" "00371562" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ" "DNA" "" "Gene Chip"
"0000372791" "00371563" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ" "DNA" "" "Gene Chip"
"0000372792" "00371564" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372793" "00371565" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372794" "00371566" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372795" "00371567" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ" "DNA" "" "Gene Chip"
"0000372796" "00371568" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ" "DNA" "" "Gene Chip"
"0000372797" "00371569" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ" "DNA" "" "Gene Chip"
"0000372798" "00371570" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ" "DNA" "" "Gene Chip"
"0000372799" "00371571" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372800" "00371572" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372801" "00371573" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ" "DNA" "" "Gene Chip"
"0000372802" "00371574" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ" "DNA" "" "Gene Chip"
"0000372803" "00371575" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ" "DNA" "" "Gene Chip"
"0000372804" "00371576" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ" "DNA" "" "Gene Chip"
"0000372805" "00371577" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ" "DNA" "" "Gene Chip"
"0000372806" "00371578" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372807" "00371579" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ" "DNA" "" "Gene Chip"
"0000372808" "00371580" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ" "DNA" "" "Gene Chip"
"0000372809" "00371581" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ" "DNA" "" "Gene Chip"
"0000372810" "00371582" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ" "DNA" "" "Gene Chip"
"0000372811" "00371583" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ" "DNA" "" "Gene Chip"
"0000372812" "00371584" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ" "DNA" "" "Gene Chip"
"0000372813" "00371585" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ" "DNA" "" "Gene Chip"
"0000372814" "00371586" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372815" "00371587" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372816" "00371588" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372817" "00371589" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ" "DNA" "" "Gene Chip"
"0000372818" "00371590" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ" "DNA" "" "Gene Chip"
"0000372819" "00371591" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ" "DNA" "" "Gene Chip"
"0000372820" "00371592" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372821" "00371593" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ" "DNA" "" "Gene Chip"
"0000372822" "00371594" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ" "DNA" "" "Gene Chip"
"0000372823" "00371595" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372824" "00371596" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372825" "00371597" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ" "DNA" "" "Gene Chip"
"0000372826" "00371598" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ" "DNA" "" "Gene Chip"
"0000372827" "00371599" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372828" "00371600" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372829" "00371601" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ" "DNA" "" "Gene Chip"
"0000372830" "00371602" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372831" "00371603" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ" "DNA" "" "Gene Chip"
"0000372832" "00371604" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372833" "00371605" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ" "DNA" "" "Gene Chip"
"0000372834" "00371606" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372835" "00371607" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ" "DNA" "" "Gene Chip"
"0000372836" "00371608" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372837" "00371609" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ" "DNA" "" "Gene Chip"
"0000372838" "00371610" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372839" "00371611" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372840" "00371612" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372841" "00371613" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372842" "00371614" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372843" "00371615" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372844" "00371616" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372845" "00371617" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ" "DNA" "" "Gene Chip"
"0000372846" "00371618" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ" "DNA" "" "Gene Chip"
"0000372847" "00371619" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372848" "00371620" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372849" "00371621" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372850" "00371622" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372851" "00371623" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372852" "00371624" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372853" "00371625" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ" "DNA" "" "Gene Chip"
"0000372854" "00371626" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372855" "00371627" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372856" "00371628" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372857" "00371629" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372858" "00371630" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372859" "00371631" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372860" "00371632" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ" "DNA" "" "Gene Chip"
"0000372861" "00371633" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372862" "00371634" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372863" "00371635" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ" "DNA" "" "Gene Chip"
"0000372864" "00371636" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372865" "00371637" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ" "DNA" "" "Gene Chip"
"0000372866" "00371638" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372867" "00371639" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372868" "00371640" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372869" "00371641" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372870" "00371642" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372871" "00371643" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ" "DNA" "" "Gene Chip"
"0000372872" "00371644" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ" "DNA" "" "Gene Chip"
"0000372873" "00371645" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372874" "00371646" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372875" "00371647" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ" "DNA" "" "Gene Chip"
"0000372876" "00371648" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372877" "00371649" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ" "DNA" "" "Gene Chip"
"0000372878" "00371650" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372879" "00371651" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372880" "00371652" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372881" "00371653" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "arraySEQ;SEQ" "DNA" "" "Gene Chip"
"0000372882" "00371654" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372883" "00371655" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372884" "00371656" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "solid state SBS"
"0000372885" "00371657" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372886" "00371658" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372887" "00371659" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000372888" "00371660" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ" "DNA" "" ""
"0000373737" "00372504" "1" "00000" "00006" "2021-05-08 09:43:10" "" "" "SEQ-NG" "DNA" "" "163-gene panel"
"0000373858" "00372626" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000373874" "00372642" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000373897" "00372665" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000373898" "00372666" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000373902" "00372670" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000373917" "00372685" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000373923" "00372691" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000373940" "00372708" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000373941" "00372709" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000373942" "00372710" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000373952" "00372720" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000373964" "00372732" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000373970" "00372738" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000374745" "00373510" "1" "00000" "00006" "2021-05-14 19:24:06" "" "" "SEQ-NG" "DNA" "" "316-gene panel"
"0000375046" "00373814" "1" "00000" "00006" "2021-05-21 12:20:36" "" "" "arraySEQ" "DNA" "" "Asper"
"0000375057" "00373825" "1" "00000" "00006" "2021-05-21 13:56:05" "" "" "SEQ-NG" "DNA" "" "86-gene panel"
"0000376613" "00375416" "1" "00000" "00006" "2021-06-04 09:36:04" "" "" "SEQ-NG" "DNA" "" "WES"
"0000376625" "00375428" "1" "00000" "00006" "2021-06-04 09:36:04" "" "" "SEQ-NG" "DNA" "" "WES"
"0000376627" "00375430" "1" "00000" "00006" "2021-06-04 09:36:04" "" "" "SEQ-NG" "DNA" "" "WES"
"0000376629" "00375432" "1" "00000" "00006" "2021-06-04 09:36:04" "" "" "SEQ-NG" "DNA" "" "WES"
"0000376633" "00375436" "1" "00000" "00006" "2021-06-04 11:16:10" "" "" "SEQ-NG" "DNA" "" "162-gene panel"
"0000377391" "00376195" "1" "00000" "00008" "2021-06-19 02:19:40" "" "" "DHPLC;SEQ" "DNA" "blood" ""
"0000377394" "00376198" "1" "00000" "00008" "2021-06-19 02:19:40" "" "" "DHPLC;SEQ" "DNA" "blood" ""
"0000377506" "00376310" "1" "00000" "00008" "2021-06-19 02:19:40" "" "" "SEQ-NG" "DNA" "blood" ""
"0000377958" "00376752" "1" "00000" "00006" "2021-06-25 14:31:53" "" "" "SEQ-NG" "DNA" "" "66-gene panel"
"0000377965" "00376759" "1" "00000" "00006" "2021-06-25 14:31:53" "" "" "SEQ-NG" "DNA" "" "66-gene panel"
"0000377968" "00376762" "1" "00000" "00006" "2021-06-25 14:31:53" "" "" "SEQ-NG" "DNA" "" "66-gene panel"
"0000377970" "00376764" "1" "00000" "00006" "2021-06-25 14:31:53" "" "" "SEQ-NG" "DNA" "" "66-gene panel"
"0000377975" "00376769" "1" "00000" "00006" "2021-06-25 14:31:53" "" "" "SEQ-NG" "DNA" "" "66-gene panel"
"0000377980" "00376774" "1" "00000" "00006" "2021-06-25 14:31:53" "" "" "SEQ-NG" "DNA" "" "66-gene panel"
"0000377995" "00376789" "1" "00000" "00006" "2021-06-25 14:31:53" "" "" "SEQ-NG" "DNA" "" "66-gene panel"
"0000377998" "00376792" "1" "00000" "00006" "2021-06-25 14:31:53" "" "" "SEQ-NG" "DNA" "" "66-gene panel"
"0000377999" "00376793" "1" "00000" "00006" "2021-06-25 14:31:53" "" "" "SEQ-NG" "DNA" "" "66-gene panel"
"0000378002" "00376796" "1" "00000" "00006" "2021-06-25 14:31:53" "" "" "SEQ-NG" "DNA" "" "66-gene panel"
"0000378250" "00377045" "1" "00000" "00008" "2021-06-29 06:08:50" "" "" "arraySEQ" "DNA" "blood" ""
"0000378396" "00377191" "1" "00000" "03840" "2021-07-16 14:18:12" "00006" "2021-08-06 16:49:30" "SEQ-NG-I;SEQ" "DNA" "blood" "targeted resequencing using MIPs library prep; 108-gene panel"
"0000378427" "00377222" "1" "00000" "03840" "2021-07-16 14:18:12" "00006" "2021-08-06 16:49:30" "SEQ-NG-I;SEQ" "DNA" "blood" "targeted resequencing using MIPs library prep; 108-gene panel"
"0000378465" "00377260" "1" "00000" "03840" "2021-07-16 14:18:12" "00006" "2021-08-06 16:49:30" "SEQ-NG-I;SEQ" "DNA" "blood" "targeted resequencing using MIPs library prep; 108-gene panel"
"0000378737" "00377534" "1" "00000" "03840" "2021-07-22 15:35:32" "00006" "2021-08-06 16:49:30" "SEQ-NG;SEQ" "DNA" "blood" "Targeted next-generation sequencing"
"0000378741" "00377538" "1" "04521" "03840" "2021-07-22 15:35:32" "04521" "2023-06-13 04:35:43" "MLPA;SEQ;SEQ-NG" "DNA" "blood" "Targeted next-generation sequencing, CEP290 intronic variant c.2991 +1655A> G, PCR for RPGRIP1 exon 17 deletion, CCT2, CLUAP1, DTHD1, GDF6, and IFT140 seuqencingmultiplex ligation-dependent probe amplification analysis,WGS"
"0000378742" "00377539" "1" "04521" "03840" "2021-07-22 15:35:32" "04521" "2023-06-13 04:49:40" "MLPA;SEQ;SEQ-NG" "DNA" "blood" "Targeted next-generation sequencing, CEP290 intronic variant c.2991 +1655A> G, PCR for RPGRIP1 exon 17 deletion, CCT2, CLUAP1, DTHD1, GDF6, and IFT140 seuqencing, The RPGR exon ORF15 analysis, multiplex ligation-dependent probe amplification analysis, WGS"
"0000379132" "00377928" "1" "00000" "00008" "2021-08-02 20:37:33" "" "" "arraySNP" "DNA" "blood" ""
"0000379133" "00377929" "1" "00000" "00008" "2021-08-02 20:37:33" "" "" "arraySNP" "DNA" "blood" ""
"0000379157" "00377953" "1" "00000" "00008" "2021-08-02 20:37:33" "" "" "SEQ; SEQ-NG-S" "DNA" "blood" ""
"0000379163" "00377959" "1" "00000" "00008" "2021-08-02 20:37:33" "" "" "SEQ" "DNA" "blood" ""
"0000379164" "00377960" "1" "00000" "00008" "2021-08-02 20:37:33" "" "" "PCR; SEQ" "DNA" "blood" ""
"0000379165" "00377961" "1" "00000" "00008" "2021-08-02 20:37:33" "" "" "PCR; SEQ" "DNA" "blood" ""
"0000379166" "00377962" "1" "00000" "00008" "2021-08-02 20:37:33" "" "" "PCR; SEQ" "DNA" "blood" ""
"0000379168" "00377964" "1" "00000" "00008" "2021-08-02 20:37:33" "" "" "PCR; SEQ" "DNA" "blood" ""
"0000379169" "00377965" "1" "00000" "00008" "2021-08-02 20:37:33" "" "" "PCR; SEQ" "DNA" "blood" ""
"0000379170" "00377966" "1" "00000" "00008" "2021-08-02 20:37:33" "" "" "PCR; SEQ" "DNA" "blood" ""
"0000379171" "00377967" "1" "00000" "00008" "2021-08-02 20:37:33" "" "" "PCR; SEQ" "DNA" "blood" ""
"0000379172" "00377968" "1" "00000" "00008" "2021-08-02 20:37:33" "" "" "PCR; SEQ" "DNA" "blood" ""
"0000379173" "00377969" "1" "00000" "00008" "2021-08-02 20:37:33" "" "" "PCR; SEQ" "DNA" "blood" ""
"0000379174" "00377970" "1" "00000" "00008" "2021-08-02 20:37:33" "" "" "PCR; SEQ" "DNA" "blood" ""
"0000379175" "00377971" "1" "00000" "00008" "2021-08-02 20:37:33" "" "" "PCR; SEQ" "DNA" "blood" ""
"0000379176" "00377972" "1" "00000" "00008" "2021-08-02 20:37:33" "" "" "PCR; SEQ" "DNA" "blood" ""
"0000379177" "00377973" "1" "00000" "00008" "2021-08-02 20:37:33" "" "" "PCR; SEQ" "DNA" "blood" ""
"0000379178" "00377974" "1" "00000" "00008" "2021-08-02 20:37:33" "" "" "PCR; SEQ" "DNA" "blood" ""
"0000379180" "00377976" "1" "00000" "00008" "2021-08-02 20:37:33" "" "" "PCR; SEQ" "DNA" "blood" ""
"0000379181" "00377977" "1" "00000" "00008" "2021-08-02 20:37:33" "" "" "PCR; SEQ" "DNA" "blood" ""
"0000379182" "00377978" "1" "00000" "00008" "2021-08-02 20:37:33" "" "" "PCR; SEQ" "DNA" "blood" ""
"0000379183" "00377979" "1" "00000" "00008" "2021-08-02 20:37:33" "" "" "PCR; SEQ" "DNA" "blood" ""
"0000379184" "00377980" "1" "00000" "00008" "2021-08-02 20:37:33" "" "" "PCR; SEQ" "DNA" "blood" ""
"0000379185" "00377981" "1" "00000" "00008" "2021-08-02 20:37:33" "" "" "PCR; SEQ" "DNA" "blood" ""
"0000379186" "00377982" "1" "00000" "00008" "2021-08-02 20:37:33" "" "" "PCR; SEQ" "DNA" "blood" ""
"0000379214" "00378010" "1" "03508" "03508" "2021-08-03 02:38:06" "" "" "SEQ-NG-I" "DNA" "" ""
"0000379229" "00378028" "1" "03508" "03508" "2021-08-03 09:05:00" "" "" "SEQ-NG-I" "DNA" "" ""
"0000379265" "00378064" "1" "03508" "03508" "2021-08-04 08:20:39" "" "" "SEQ-NG-I" "DNA" "" ""
"0000379267" "00378066" "1" "03508" "03508" "2021-08-04 09:04:26" "" "" "SEQ-NG-I" "DNA" "" ""
"0000380599" "00379399" "1" "00000" "00008" "2021-08-05 00:17:46" "" "" "arraySEQ;PCR;SEQ" "DNA" "blood" ""
"0000380707" "00379507" "1" "00000" "00008" "2021-08-05 00:17:46" "" "" "?" "DNA" "Unknown" ""
"0000380708" "00379508" "1" "00000" "00008" "2021-08-05 00:17:46" "" "" "?" "DNA" "Unknown" ""
"0000380709" "00379509" "1" "00000" "00008" "2021-08-05 00:17:46" "" "" "?" "DNA" "Unknown" ""
"0000380726" "00379526" "1" "00000" "00008" "2021-08-05 00:17:46" "" "" "?" "DNA" "blood" ""
"0000380825" "00379626" "1" "00000" "00008" "2021-08-06 03:44:17" "" "" "SEQ" "DNA" "blood" ""
"0000380839" "00379641" "1" "03508" "03508" "2021-08-06 05:06:33" "" "" "SEQ-NG-I" "DNA" "" ""
"0000380844" "00379645" "1" "03508" "03508" "2021-08-06 05:23:48" "" "" "SEQ-NG-I" "DNA" "" ""
"0000380861" "00379661" "1" "03508" "03508" "2021-08-06 07:58:00" "" "" "SEQ-NG-I" "DNA" "" ""
"0000380863" "00379663" "1" "03508" "03508" "2021-08-06 08:20:47" "" "" "SEQ-NG-I" "DNA" "" ""
"0000380864" "00379664" "1" "03508" "03508" "2021-08-06 08:25:15" "" "" "SEQ-NG-I" "DNA" "" ""
"0000380869" "00379669" "1" "03508" "03508" "2021-08-06 08:47:03" "" "" "SEQ-NG-I" "DNA" "" ""
"0000380879" "00379678" "1" "03508" "03508" "2021-08-06 09:39:52" "" "" "SEQ-NG-I" "DNA" "" ""
"0000380912" "00379710" "1" "00000" "03840" "2021-08-06 16:45:16" "" "" "SEQ-NG-I" "DNA" "blood" "Whole-exome sequencing"
"0000380960" "00379759" "1" "03508" "03508" "2021-08-09 05:06:01" "" "" "SEQ-NG-I" "DNA" "" ""
"0000380971" "00379770" "1" "03508" "03508" "2021-08-09 07:58:24" "" "" "SEQ-NG-I" "DNA" "" ""
"0000380972" "00379772" "1" "03508" "03508" "2021-08-09 08:11:11" "" "" "SEQ-NG-I" "DNA" "" ""
"0000380981" "00379778" "1" "03508" "03508" "2021-08-09 10:09:08" "" "" "SEQ-NG-I" "DNA" "" ""
"0000381007" "00379804" "1" "03508" "03508" "2021-08-10 06:47:13" "" "" "SEQ-NG-I" "DNA" "" ""
"0000381309" "00380108" "1" "00000" "03840" "2021-08-10 09:32:07" "" "" "SEQ-NG" "DNA" "" "Whole-exome sequencing"
"0000381310" "00380109" "1" "00000" "03840" "2021-08-10 09:32:07" "" "" "SEQ-NG" "DNA" "" "Whole-exome sequencing"
"0000381311" "00380110" "1" "00000" "03840" "2021-08-10 09:32:07" "" "" "SEQ-NG" "DNA" "" "Whole-exome sequencing"
"0000381312" "00380111" "1" "00000" "03840" "2021-08-10 09:32:07" "" "" "SEQ-NG" "DNA" "" "Whole-exome sequencing"
"0000381313" "00380112" "1" "00000" "03840" "2021-08-10 09:32:07" "" "" "SEQ-NG" "DNA" "" "Whole-exome sequencing"
"0000381314" "00380113" "1" "00000" "03840" "2021-08-10 09:32:07" "" "" "SEQ-NG" "DNA" "" "Whole-exome sequencing"
"0000381315" "00380114" "1" "00000" "03840" "2021-08-10 09:32:07" "" "" "SEQ-NG" "DNA" "" "Whole-exome sequencing"
"0000381316" "00380115" "1" "00000" "03840" "2021-08-10 09:32:07" "" "" "SEQ-NG" "DNA" "" "Whole-exome sequencing"
"0000381357" "00380155" "1" "03508" "03508" "2021-08-10 10:43:47" "" "" "SEQ-NG-I" "DNA" "" ""
"0000381361" "00380159" "1" "03508" "03508" "2021-08-10 11:00:28" "" "" "SEQ-NG-I" "DNA" "" ""
"0000381362" "00380160" "1" "03508" "03508" "2021-08-10 11:03:37" "" "" "SEQ-NG-I" "DNA" "" ""
"0000381364" "00380162" "1" "03508" "03508" "2021-08-10 11:11:40" "" "" "SEQ-NG-I" "DNA" "" ""
"0000381367" "00380165" "1" "03508" "03508" "2021-08-10 11:22:34" "" "" "SEQ-NG-I" "DNA" "" ""
"0000381382" "00380180" "1" "00000" "03840" "2021-08-11 10:47:34" "" "" "SEQ-NG" "DNA" "blood" ""
"0000381396" "00380194" "1" "00000" "03840" "2021-08-11 10:47:34" "" "" "SEQ-NG" "DNA" "blood" ""
"0000381552" "00380338" "1" "00000" "00008" "2021-08-13 14:56:11" "" "" "SEQ" "DNA" "blood" ""
"0000381553" "00380339" "1" "00000" "00008" "2021-08-13 14:56:11" "" "" "SEQ" "DNA" "blood" ""
"0000381554" "00380340" "1" "00000" "00008" "2021-08-13 14:56:11" "" "" "SEQ" "DNA" "blood" ""
"0000381580" "00380366" "1" "00000" "00008" "2021-08-13 14:56:11" "" "" "SEQ" "DNA" "blood" ""
"0000382216" "00381002" "1" "00000" "00008" "2021-08-25 12:56:54" "" "" "SEQ-NG;SEQp" "DNA" "blood" "targeted exon capture/IROme assay"
"0000382298" "00381084" "1" "00000" "00008" "2021-08-25 12:56:54" "" "" "arraySNP;SEQ;PCR" "DNA" "blood" ""
"0000382299" "00381085" "1" "00000" "00008" "2021-08-25 12:56:54" "" "" "PE;SEQ" "DNA" "blood" ""
"0000382301" "00381087" "1" "00000" "00008" "2021-08-25 12:56:54" "" "" "arraySNP;SEQ;PCR" "DNA" "blood" ""
"0000382304" "00381090" "1" "00000" "00008" "2021-08-25 12:56:54" "" "" "arraySNP;SEQ;PCR" "DNA" "blood" ""
"0000382818" "00381602" "1" "00000" "00008" "2021-09-03 05:21:17" "" "" "SEQ-NG-I;SEQ-NG-R;SEQ" "DNA" "blood" ""
"0000382820" "00381604" "1" "00000" "00008" "2021-09-03 05:21:17" "" "" "SEQ-NG-I;SEQ-NG-R;SEQ" "DNA" "blood" ""
"0000382826" "00381610" "1" "00000" "00008" "2021-09-03 05:21:17" "" "" "SEQ-NG-I;SEQ-NG-R;SEQ" "DNA" "blood" ""
"0000382834" "00381618" "1" "00000" "00008" "2021-09-03 05:21:17" "" "" "SEQ-NG-I;SEQ-NG-R;SEQ" "DNA" "blood" ""
"0000382845" "00381629" "1" "00000" "00008" "2021-09-03 05:21:17" "" "" "SEQ-NG-I;SEQ-NG-R;SEQ" "DNA" "blood" ""
"0000382854" "00381638" "1" "00000" "00008" "2021-09-03 05:21:17" "" "" "SEQ-NG-I;SEQ-NG-R;SEQ" "DNA" "blood" ""
"0000382861" "00381645" "1" "00000" "00008" "2021-09-03 05:21:17" "" "" "SEQ-NG-I;SEQ-NG-R;SEQ" "DNA" "blood" ""
"0000382863" "00381647" "1" "00000" "00008" "2021-09-03 05:21:17" "" "" "SEQ-NG-I;SEQ-NG-R;SEQ" "DNA" "blood" ""
"0000382864" "00381648" "1" "00000" "00008" "2021-09-03 05:21:17" "" "" "SEQ-NG-I;SEQ-NG-R;SEQ" "DNA" "blood" ""
"0000382870" "00381654" "1" "00000" "00008" "2021-09-03 05:21:17" "" "" "SEQ-NG-I;SEQ-NG-R;SEQ" "DNA" "blood" ""
"0000382871" "00381655" "1" "00000" "00008" "2021-09-03 05:21:17" "" "" "SEQ-NG-I;SEQ-NG-R;SEQ" "DNA" "blood" ""
"0000382876" "00381660" "1" "00000" "00008" "2021-09-03 05:21:17" "" "" "SEQ-NG-I;SEQ-NG-R;SEQ" "DNA" "blood" ""
"0000382883" "00381667" "1" "00000" "00008" "2021-09-03 05:21:17" "" "" "SEQ-NG-I;SEQ-NG-R;SEQ" "DNA" "blood" ""
"0000382884" "00381668" "1" "00000" "00008" "2021-09-03 05:21:17" "" "" "SEQ-NG-I;SEQ-NG-R;SEQ" "DNA" "blood" ""
"0000382890" "00381674" "1" "00000" "00008" "2021-09-03 05:21:17" "" "" "SEQ-NG-I;SEQ-NG-R;SEQ" "DNA" "blood" ""
"0000382893" "00381677" "1" "00000" "00008" "2021-09-03 05:21:17" "" "" "SEQ-NG-I;SEQ-NG-R;SEQ" "DNA" "blood" ""
"0000382895" "00381679" "1" "00000" "00008" "2021-09-03 05:21:17" "" "" "SEQ-NG-I;SEQ-NG-R;SEQ" "DNA" "blood" ""
"0000382897" "00381681" "1" "00000" "00008" "2021-09-03 05:21:17" "" "" "SEQ-NG-I;SEQ-NG-R;SEQ" "DNA" "blood" ""
"0000382898" "00381682" "1" "00000" "00008" "2021-09-03 05:21:17" "" "" "SEQ-NG-I;SEQ-NG-R;SEQ" "DNA" "blood" ""
"0000382902" "00381686" "1" "00000" "00008" "2021-09-03 05:21:17" "" "" "SEQ-NG-I;SEQ-NG-R;SEQ" "DNA" "blood" ""
"0000382903" "00381687" "1" "00000" "00008" "2021-09-03 05:21:17" "" "" "SEQ-NG-I;SEQ-NG-R;SEQ" "DNA" "blood" ""
"0000382904" "00381688" "1" "00000" "00008" "2021-09-03 05:21:17" "" "" "SEQ-NG-I;SEQ-NG-R;SEQ" "DNA" "blood" ""
"0000383006" "00381790" "1" "00000" "00008" "2021-09-03 05:21:17" "" "" "SEQ-NG" "DNA" "blood" "WES"
"0000383007" "00381791" "1" "00000" "00008" "2021-09-03 05:21:17" "" "" "SEQ-NG" "DNA" "blood" "WES"
"0000383008" "00381792" "1" "00000" "00008" "2021-09-03 05:21:17" "" "" "SEQ-NG" "DNA" "blood" "WES"
"0000383109" "00381893" "1" "00000" "03840" "2021-09-06 14:05:57" "" "" "SEQ-NG" "DNA" "blood" ""
"0000383165" "00381949" "1" "00000" "03840" "2021-09-06 14:12:14" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "targeted resequencing using MIPs library prep; 108-gene panel"
"0000383166" "00381950" "1" "00000" "03840" "2021-09-06 14:12:14" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "targeted resequencing using MIPs library prep; 108-gene panel"
"0000383167" "00381951" "1" "00000" "03840" "2021-09-06 14:12:14" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "targeted resequencing using MIPs library prep; 108-gene panel"
"0000383168" "00381952" "1" "00000" "03840" "2021-09-06 14:12:14" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "targeted resequencing using MIPs library prep; 108-gene panel"
"0000383431" "00382217" "1" "00000" "03840" "2021-09-09 12:39:39" "" "" "SEQ-NG-I" "DNA" "blood" "125 genes associated with inherited retinal disorders, see paper supplemental data"
"0000383503" "00382289" "1" "00000" "03840" "2021-09-09 12:39:39" "" "" "SEQ-NG-I" "DNA" "blood" "125 genes associated with inherited retinal disorders, see paper supplemental data"
"0000383509" "00382295" "1" "00000" "03840" "2021-09-09 12:39:39" "" "" "SEQ-NG-I" "DNA" "blood" "125 genes associated with inherited retinal disorders, see paper supplemental data"
"0000383526" "00382312" "1" "00000" "03840" "2021-09-09 12:39:39" "" "" "SEQ-NG-I" "DNA" "blood" "125 genes associated with inherited retinal disorders, see paper supplemental data"
"0000383586" "00382372" "1" "00000" "03840" "2021-09-09 12:39:39" "" "" "SEQ-NG-I" "DNA" "blood" "125 genes associated with inherited retinal disorders, see paper supplemental data"
"0000383587" "00382373" "1" "00000" "03840" "2021-09-09 12:39:39" "" "" "SEQ-NG-I" "DNA" "blood" "125 genes associated with inherited retinal disorders, see paper supplemental data"
"0000383589" "00382375" "1" "00000" "03840" "2021-09-09 12:39:39" "" "" "SEQ-NG-I" "DNA" "blood" "125 genes associated with inherited retinal disorders, see paper supplemental data"
"0000383734" "00382520" "1" "00000" "03840" "2021-09-09 12:39:39" "" "" "SEQ-NG-I" "DNA" "blood" "125 genes associated with inherited retinal disorders, see paper supplemental data"
"0000383752" "00382538" "1" "00000" "03840" "2021-09-09 12:39:39" "" "" "SEQ-NG-I" "DNA" "blood" "125 genes associated with inherited retinal disorders, see paper supplemental data"
"0000383848" "00382634" "1" "00000" "03840" "2021-09-09 12:59:34" "" "" "SEQ-NG" "DNA" "blood" "solved"
"0000383849" "00382635" "1" "00000" "03840" "2021-09-09 12:59:34" "" "" "SEQ-NG" "DNA" "blood" "unsolved"
"0000383866" "00382652" "1" "00000" "03840" "2021-09-09 12:59:34" "" "" "SEQ-NG" "DNA" "blood" "unsolved: single allele variant in autosomal recessive disease"
"0000383867" "00382653" "1" "00000" "03840" "2021-09-09 12:59:34" "" "" "SEQ-NG" "DNA" "blood" "unsolved: single allele variant in autosomal recessive disease"
"0000383868" "00382654" "1" "00000" "03840" "2021-09-09 12:59:34" "" "" "SEQ-NG" "DNA" "blood" "unsolved: single allele variant in autosomal recessive disease"
"0000383869" "00382655" "1" "00000" "03840" "2021-09-09 12:59:34" "" "" "SEQ-NG" "DNA" "blood" "unsolved: single allele variant in autosomal recessive disease"
"0000383870" "00382656" "1" "00000" "03840" "2021-09-09 12:59:34" "" "" "SEQ-NG" "DNA" "blood" "unsolved: single allele variant in autosomal recessive disease"
"0000383875" "00382661" "1" "00000" "03840" "2021-09-09 12:59:34" "" "" "SEQ-NG" "DNA" "blood" "unsolved: single allele variant in autosomal recessive disease"
"0000383876" "00382662" "1" "03840" "03840" "2021-09-09 15:06:10" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "targeted resequencing using MIPs library prep; 108-gene panel"
"0000383877" "00382663" "1" "03840" "03840" "2021-09-09 15:06:10" "" "" "SEQ" "DNA" "buccal cells" "targeted resequencing using MIPs library prep; 108-gene panel"
"0000383878" "00382664" "1" "03840" "03840" "2021-09-09 15:06:10" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "targeted resequencing using MIPs library prep; 108-gene panel"
"0000383879" "00382665" "1" "03840" "03840" "2021-09-09 15:06:10" "" "" "RFLP" "DNA" "buccal cells" "targeted resequencing using MIPs library prep; 108-gene panel"
"0000383880" "00382666" "1" "03840" "03840" "2021-09-09 15:06:10" "" "" "RFLP" "DNA" "buccal cells" "targeted resequencing using MIPs library prep; 108-gene panel"
"0000383881" "00382667" "1" "03840" "03840" "2021-09-09 15:06:10" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "targeted resequencing using MIPs library prep; 108-gene panel"
"0000383882" "00382668" "1" "03840" "03840" "2021-09-09 15:06:10" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "targeted resequencing using MIPs library prep; 108-gene panel"
"0000383883" "00382669" "1" "03840" "03840" "2021-09-09 15:06:10" "" "" "SEQ" "DNA" "buccal cells" "targeted resequencing using MIPs library prep; 108-gene panel"
"0000383884" "00382670" "1" "03840" "03840" "2021-09-09 15:06:10" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "targeted resequencing using MIPs library prep; 108-gene panel"
"0000383885" "00382671" "1" "03840" "03840" "2021-09-09 15:06:10" "" "" "RFLP" "DNA" "buccal cells" "targeted resequencing using MIPs library prep; 108-gene panel"
"0000383886" "00382672" "1" "03840" "03840" "2021-09-09 15:06:10" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "targeted resequencing using MIPs library prep; 108-gene panel"
"0000383887" "00382673" "1" "03840" "03840" "2021-09-09 15:06:10" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "targeted resequencing using MIPs library prep; 108-gene panel"
"0000383888" "00382674" "1" "03840" "03840" "2021-09-09 15:06:10" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "targeted resequencing using MIPs library prep; 108-gene panel"
"0000383889" "00382675" "1" "03840" "03840" "2021-09-09 15:06:10" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "targeted resequencing using MIPs library prep; 108-gene panel"
"0000383890" "00382676" "1" "03840" "03840" "2021-09-09 15:06:10" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "targeted resequencing using MIPs library prep; 108-gene panel"
"0000383891" "00382677" "1" "03840" "03840" "2021-09-09 15:06:10" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "targeted resequencing using MIPs library prep; 108-gene panel"
"0000383892" "00382678" "1" "03840" "03840" "2021-09-09 15:06:10" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "targeted resequencing using MIPs library prep; 108-gene panel"
"0000383893" "00382679" "1" "03840" "03840" "2021-09-09 15:06:10" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "targeted resequencing using MIPs library prep; 108-gene panel"
"0000383894" "00382680" "1" "03840" "03840" "2021-09-09 15:06:10" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "targeted resequencing using MIPs library prep; 108-gene panel"
"0000383895" "00382681" "1" "03840" "03840" "2021-09-09 15:06:10" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "targeted resequencing using MIPs library prep; 108-gene panel"
"0000383896" "00382682" "1" "03840" "03840" "2021-09-09 15:06:10" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "targeted resequencing using MIPs library prep; 108-gene panel"
"0000383897" "00382683" "1" "03840" "03840" "2021-09-09 15:06:10" "" "" "RFLP" "DNA" "buccal cells" "targeted resequencing using MIPs library prep; 108-gene panel"
"0000383898" "00382684" "1" "03840" "03840" "2021-09-09 15:06:10" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "targeted resequencing using MIPs library prep; 108-gene panel"
"0000383899" "00382685" "1" "03840" "03840" "2021-09-09 15:06:10" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "targeted resequencing using MIPs library prep; 108-gene panel"
"0000383900" "00382686" "1" "03840" "03840" "2021-09-09 15:06:10" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "targeted resequencing using MIPs library prep; 108-gene panel"
"0000383901" "00382687" "1" "03840" "03840" "2021-09-09 15:06:10" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "targeted resequencing using MIPs library prep; 108-gene panel"
"0000383902" "00382688" "1" "03840" "03840" "2021-09-09 15:06:10" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "targeted resequencing using MIPs library prep; 108-gene panel"
"0000383903" "00382689" "1" "03840" "03840" "2021-09-09 15:06:10" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "targeted resequencing using MIPs library prep; 108-gene panel"
"0000383904" "00382690" "1" "03840" "03840" "2021-09-09 15:06:10" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "targeted resequencing using MIPs library prep; 108-gene panel"
"0000383905" "00382691" "1" "03840" "03840" "2021-09-09 15:06:10" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "targeted resequencing using MIPs library prep; 108-gene panel"
"0000383906" "00382692" "1" "03840" "03840" "2021-09-09 15:06:10" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "targeted resequencing using MIPs library prep; 108-gene panel"
"0000383907" "00382693" "1" "03840" "03840" "2021-09-09 15:06:10" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "targeted resequencing using MIPs library prep; 108-gene panel"
"0000383908" "00382694" "1" "03840" "03840" "2021-09-09 15:06:10" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "targeted resequencing using MIPs library prep; 108-gene panel"
"0000383909" "00382695" "1" "03840" "03840" "2021-09-09 15:06:10" "" "" "RFLP" "DNA" "buccal cells" "targeted resequencing using MIPs library prep; 108-gene panel"
"0000383910" "00382696" "1" "03840" "03840" "2021-09-09 15:06:10" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "targeted resequencing using MIPs library prep; 108-gene panel"
"0000383911" "00382697" "1" "03840" "03840" "2021-09-09 15:06:10" "" "" "RFLP" "DNA" "buccal cells" "targeted resequencing using MIPs library prep; 108-gene panel"
"0000383912" "00382698" "1" "03840" "03840" "2021-09-09 15:06:10" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "targeted resequencing using MIPs library prep; 108-gene panel"
"0000383913" "00382699" "1" "03840" "03840" "2021-09-09 15:06:10" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "targeted resequencing using MIPs library prep; 108-gene panel"
"0000383914" "00382700" "1" "03840" "03840" "2021-09-09 15:06:10" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "targeted resequencing using MIPs library prep; 108-gene panel"
"0000383915" "00382701" "1" "03840" "03840" "2021-09-09 15:06:10" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "targeted resequencing using MIPs library prep; 108-gene panel"
"0000383916" "00382702" "1" "03840" "03840" "2021-09-09 15:06:10" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "targeted resequencing using MIPs library prep; 108-gene panel"
"0000383917" "00382703" "1" "03840" "03840" "2021-09-09 15:06:10" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "targeted resequencing using MIPs library prep; 108-gene panel"
"0000383918" "00382704" "1" "03840" "03840" "2021-09-09 15:06:10" "" "" "RFLP" "DNA" "buccal cells" "targeted resequencing using MIPs library prep; 108-gene panel"
"0000383919" "00382705" "1" "03840" "03840" "2021-09-09 15:06:10" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "targeted resequencing using MIPs library prep; 108-gene panel"
"0000383920" "00382706" "1" "03840" "03840" "2021-09-09 15:06:10" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "targeted resequencing using MIPs library prep; 108-gene panel"
"0000383921" "00382707" "1" "03840" "03840" "2021-09-09 15:06:10" "" "" "RFLP" "DNA" "buccal cells" "targeted resequencing using MIPs library prep; 108-gene panel"
"0000383922" "00382708" "1" "03840" "03840" "2021-09-09 15:06:10" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "targeted resequencing using MIPs library prep; 108-gene panel"
"0000383923" "00382709" "1" "03840" "03840" "2021-09-09 15:06:10" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "targeted resequencing using MIPs library prep; 108-gene panel"
"0000383924" "00382710" "1" "03840" "03840" "2021-09-09 15:06:10" "" "" "RFLP" "DNA" "buccal cells" "targeted resequencing using MIPs library prep; 108-gene panel"
"0000383925" "00382711" "1" "03840" "03840" "2021-09-09 15:06:10" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "targeted resequencing using MIPs library prep; 108-gene panel"
"0000383926" "00382712" "1" "03840" "03840" "2021-09-09 15:06:10" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "targeted resequencing using MIPs library prep; 108-gene panel"
"0000383927" "00382713" "1" "03840" "03840" "2021-09-09 15:06:10" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "targeted resequencing using MIPs library prep; 108-gene panel"
"0000383928" "00382714" "1" "03840" "03840" "2021-09-09 15:06:10" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "targeted resequencing using MIPs library prep; 108-gene panel"
"0000383929" "00382715" "1" "03840" "03840" "2021-09-09 15:06:10" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "targeted resequencing using MIPs library prep; 108-gene panel"
"0000383930" "00382716" "1" "03840" "03840" "2021-09-09 15:06:10" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "targeted resequencing using MIPs library prep; 108-gene panel"
"0000383931" "00382717" "1" "03840" "03840" "2021-09-09 15:06:10" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "targeted resequencing using MIPs library prep; 108-gene panel"
"0000383932" "00382718" "1" "03840" "03840" "2021-09-09 15:06:10" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "targeted resequencing using MIPs library prep; 108-gene panel"
"0000383933" "00382719" "1" "03840" "03840" "2021-09-09 15:06:10" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "targeted resequencing using MIPs library prep; 108-gene panel"
"0000383934" "00382720" "1" "03840" "03840" "2021-09-09 15:06:10" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "targeted resequencing using MIPs library prep; 108-gene panel"
"0000383935" "00382721" "1" "03840" "03840" "2021-09-09 15:06:10" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "targeted resequencing using MIPs library prep; 108-gene panel"
"0000383936" "00382722" "1" "03840" "03840" "2021-09-09 15:06:10" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "targeted resequencing using MIPs library prep; 108-gene panel"
"0000383937" "00382723" "1" "03840" "03840" "2021-09-09 15:06:10" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "targeted resequencing using MIPs library prep; 108-gene panel"
"0000383938" "00382724" "1" "03840" "03840" "2021-09-09 15:06:10" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "targeted resequencing using MIPs library prep; 108-gene panel"
"0000383939" "00382725" "1" "03840" "03840" "2021-09-09 15:06:10" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "targeted resequencing using MIPs library prep; 108-gene panel"
"0000383940" "00382726" "1" "03840" "03840" "2021-09-09 15:06:10" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "targeted resequencing using MIPs library prep; 108-gene panel"
"0000383941" "00382727" "1" "03840" "03840" "2021-09-09 15:06:10" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "targeted resequencing using MIPs library prep; 108-gene panel"
"0000383942" "00382728" "1" "03840" "03840" "2021-09-09 15:06:10" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "targeted resequencing using MIPs library prep; 108-gene panel"
"0000383943" "00382729" "1" "03840" "03840" "2021-09-09 15:06:10" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "targeted resequencing using MIPs library prep; 108-gene panel"
"0000383944" "00382730" "1" "03840" "03840" "2021-09-09 15:06:10" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "targeted resequencing using MIPs library prep; 108-gene panel"
"0000383945" "00382731" "1" "03840" "03840" "2021-09-09 15:06:10" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "targeted resequencing using MIPs library prep; 108-gene panel"
"0000383946" "00382732" "1" "03840" "03840" "2021-09-09 15:06:10" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "targeted resequencing using MIPs library prep; 108-gene panel"
"0000383947" "00382733" "1" "03840" "03840" "2021-09-09 15:06:10" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "targeted resequencing using MIPs library prep; 108-gene panel"
"0000383948" "00382734" "1" "03840" "03840" "2021-09-09 15:06:10" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "targeted resequencing using MIPs library prep; 108-gene panel"
"0000383949" "00382735" "1" "03840" "03840" "2021-09-09 15:06:10" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "targeted resequencing using MIPs library prep; 108-gene panel"
"0000383950" "00382736" "1" "03840" "03840" "2021-09-09 15:06:10" "" "" "RFLP" "DNA" "buccal cells" "targeted resequencing using MIPs library prep; 108-gene panel"
"0000384015" "00382799" "1" "00000" "00008" "2021-09-13 01:01:20" "" "" "arraySEQ;PCR" "DNA" "blood" ""
"0000384020" "00382804" "1" "00000" "00008" "2021-09-13 01:01:20" "" "" "arraySEQ;PCR" "DNA" "blood" ""
"0000384021" "00382805" "1" "00000" "00008" "2021-09-13 01:01:20" "" "" "arraySEQ;PCR" "DNA" "blood" ""
"0000384022" "00382806" "1" "00000" "00008" "2021-09-13 01:01:20" "" "" "arraySEQ;PCR" "DNA" "blood" ""
"0000384023" "00382807" "1" "00000" "00008" "2021-09-13 01:01:20" "" "" "arraySEQ;PCR" "DNA" "blood" ""
"0000384617" "00383392" "1" "00000" "03840" "2021-09-29 09:58:40" "" "" "?" "DNA" "" "retrospective study"
"0000384618" "00383393" "1" "00000" "03840" "2021-09-29 09:58:40" "" "" "?" "DNA" "" "retrospective study"
"0000384619" "00383394" "1" "00000" "03840" "2021-09-29 09:58:40" "" "" "?" "DNA" "" "retrospective study"
"0000384620" "00383395" "1" "00000" "03840" "2021-09-29 09:58:40" "" "" "?" "DNA" "" "retrospective study"
"0000384621" "00383396" "1" "00000" "03840" "2021-09-29 09:58:40" "" "" "?" "DNA" "" "retrospective study"
"0000384622" "00383397" "1" "00000" "03840" "2021-09-29 09:58:40" "" "" "?" "DNA" "" "retrospective study"
"0000384623" "00383398" "1" "00000" "03840" "2021-09-29 09:58:40" "" "" "?" "DNA" "" "retrospective study"
"0000384624" "00383399" "1" "00000" "03840" "2021-09-29 09:58:40" "" "" "?" "DNA" "" "retrospective study"
"0000384625" "00383400" "1" "00000" "03840" "2021-09-29 09:58:40" "" "" "?" "DNA" "" "retrospective study"
"0000384626" "00383401" "1" "00000" "03840" "2021-09-29 09:58:40" "" "" "?" "DNA" "" "retrospective study"
"0000384627" "00383402" "1" "00000" "03840" "2021-09-29 09:58:40" "" "" "?" "DNA" "" "retrospective study"
"0000384628" "00383403" "1" "00000" "03840" "2021-09-29 09:58:40" "" "" "?" "DNA" "" "retrospective study"
"0000384629" "00383404" "1" "00000" "03840" "2021-09-29 09:58:40" "" "" "?" "DNA" "" "retrospective study"
"0000384630" "00383405" "1" "00000" "03840" "2021-09-29 09:58:40" "" "" "?" "DNA" "" "retrospective study"
"0000384725" "00383500" "1" "00000" "03840" "2021-09-29 12:00:07" "" "" "SEQ-NG-I" "DNA" "blood" "204 genes associated with inherited retinal disorders; see paper"
"0000384732" "00383507" "1" "00000" "03840" "2021-09-29 12:00:07" "" "" "SEQ-NG-I" "DNA" "blood" "204 genes associated with inherited retinal disorders; see paper"
"0000384737" "00383512" "1" "00000" "03840" "2021-09-29 12:00:07" "" "" "SEQ-NG-I" "DNA" "blood" "204 genes associated with inherited retinal disorders; see paper"
"0000384738" "00383513" "1" "00000" "03840" "2021-09-29 12:00:07" "" "" "SEQ-NG-I" "DNA" "blood" "204 genes associated with inherited retinal disorders; see paper"
"0000384739" "00383514" "1" "00000" "03840" "2021-09-29 12:00:07" "" "" "SEQ-NG-I" "DNA" "blood" "204 genes associated with inherited retinal disorders; see paper"
"0000384740" "00383515" "1" "00000" "03840" "2021-09-29 12:00:07" "" "" "SEQ-NG-I" "DNA" "blood" "204 genes associated with inherited retinal disorders; see paper"
"0000384741" "00383516" "1" "00000" "03840" "2021-09-29 12:00:07" "" "" "SEQ-NG-I" "DNA" "blood" "204 genes associated with inherited retinal disorders; see paper"
"0000384742" "00383517" "1" "00000" "03840" "2021-09-29 12:00:07" "" "" "SEQ-NG-I" "DNA" "blood" "204 genes associated with inherited retinal disorders; see paper"
"0000384920" "00383695" "1" "00000" "03840" "2021-09-29 12:21:38" "" "" "SEQ-NG" "DNA" "blood" "this cohort was screened with arraySNP (ASPER Ophthalmics), targeted gene panels, clinical/whole exome sequencing"
"0000385024" "00383799" "1" "00000" "03840" "2021-09-29 12:39:39" "" "" "SEQ-NG" "DNA" "" ""
"0000385035" "00383810" "1" "00000" "03840" "2021-09-29 12:39:39" "" "" "SEQ-NG" "DNA" "" ""
"0000385038" "00383813" "1" "00000" "03840" "2021-09-29 12:39:39" "" "" "SEQ-NG" "DNA" "" ""
"0000385075" "00383850" "1" "00000" "03840" "2021-09-29 12:47:26" "" "" "SEQ-NG" "DNA" "blood" "105 retinal dystrophy-associated genes"
"0000385076" "00383851" "1" "00000" "03840" "2021-09-29 12:47:26" "" "" "SEQ-NG" "DNA" "blood" "105 retinal dystrophy-associated genes"
"0000385134" "00383909" "1" "00000" "03840" "2021-09-29 13:11:15" "" "" "SEQ-NG-I" "DNA" "" ""
"0000385160" "00383935" "1" "00000" "03840" "2021-09-29 13:11:15" "" "" "arraySNP" "DNA" "" ""
"0000385164" "00383939" "1" "00000" "03840" "2021-09-29 13:11:15" "" "" "arraySNP" "DNA" "" ""
"0000385182" "00383957" "1" "00000" "03840" "2021-09-29 13:11:15" "" "" "SEQ-NG-I" "DNA" "" ""
"0000385188" "00383963" "1" "00000" "03840" "2021-09-29 13:11:15" "" "" "SEQ-NG-I" "DNA" "" ""
"0000385194" "00383969" "1" "00000" "03840" "2021-09-29 13:11:15" "" "" "SEQ-NG-I" "DNA" "" ""
"0000385209" "00383984" "1" "00000" "03840" "2021-09-29 13:11:15" "" "" "SEQ-NG-I" "DNA" "" ""
"0000385220" "00383995" "1" "00000" "03840" "2021-09-29 13:11:15" "" "" "arraySNP" "DNA" "" ""
"0000385224" "00383999" "1" "00000" "03840" "2021-09-29 13:11:15" "" "" "SEQ-NG-I" "DNA" "" ""
"0000385225" "00384000" "1" "00000" "03840" "2021-09-29 13:11:15" "" "" "SEQ-NG-I" "DNA" "" ""
"0000385230" "00384005" "1" "00000" "03840" "2021-09-29 13:11:15" "" "" "SEQ-NG-I;MLPA" "DNA" "" ""
"0000385252" "00384027" "1" "00000" "03840" "2021-09-29 13:11:15" "" "" "SEQ-NG-I" "DNA" "" ""
"0000385254" "00384029" "1" "00000" "03840" "2021-09-29 13:11:15" "" "" "SEQ-NG-I" "DNA" "" ""
"0000385274" "00384049" "1" "00000" "03840" "2021-09-29 13:11:15" "" "" "SEQ-NG-I" "DNA" "" ""
"0000385286" "00384061" "1" "00000" "03840" "2021-09-29 13:11:15" "" "" "SEQ-NG-I" "DNA" "" ""
"0000385296" "00384071" "1" "00000" "03840" "2021-09-29 13:11:15" "" "" "SEQ-NG-I" "DNA" "" ""
"0000385302" "00384077" "1" "00000" "03840" "2021-09-29 13:11:15" "" "" "SEQ-NG-I" "DNA" "" ""
"0000385313" "00384088" "1" "00000" "03840" "2021-09-29 13:11:15" "" "" "SEQ-NG-I" "DNA" "" ""
"0000385315" "00384090" "1" "00000" "03840" "2021-09-29 13:11:15" "" "" "SEQ-NG-I" "DNA" "" ""
"0000385331" "00384106" "1" "00000" "03840" "2021-09-29 13:11:15" "" "" "SEQ-NG-I" "DNA" "" ""
"0000385338" "00384113" "1" "00000" "03840" "2021-09-29 13:11:15" "" "" "SEQ-NG-I" "DNA" "" ""
"0000385343" "00384118" "1" "00000" "03840" "2021-09-29 13:11:15" "" "" "SEQ-NG-I" "DNA" "" ""
"0000385355" "00384130" "1" "00000" "03840" "2021-09-29 13:11:15" "" "" "SEQ-NG-I" "DNA" "" ""
"0000385358" "00384133" "1" "00000" "03840" "2021-09-29 13:11:15" "" "" "SEQ-NG-I" "DNA" "" ""
"0000385374" "00384149" "1" "00000" "03840" "2021-09-29 13:11:15" "" "" "SEQ-NG-I" "DNA" "" ""
"0000385375" "00384150" "1" "00000" "03840" "2021-09-29 13:11:15" "" "" "SEQ-NG-I" "DNA" "" ""
"0000385402" "00384177" "1" "00000" "03840" "2021-09-29 13:11:15" "" "" "SEQ-NG-I" "DNA" "" ""
"0000385413" "00384188" "1" "00000" "03840" "2021-09-29 13:14:43" "" "" "SEQ-NG-I" "DNA" "blood" "108-gene panel targeted resequencing using MIPs library prep"
"0000385414" "00384189" "1" "00000" "03840" "2021-09-29 13:14:43" "" "" "SEQ-NG-I" "DNA" "blood" "108-gene panel targeted resequencing using MIPs library prep"
"0000385415" "00384190" "1" "00000" "03840" "2021-09-29 13:14:43" "" "" "SEQ-NG-I" "DNA" "blood" "108-gene panel targeted resequencing using MIPs library prep"
"0000385419" "00384194" "1" "00000" "03840" "2021-09-29 13:14:43" "" "" "SEQ-NG-I" "DNA" "blood" "108-gene panel targeted resequencing using MIPs library prep"
"0000385424" "00384199" "1" "00000" "03840" "2021-09-29 13:14:43" "" "" "SEQ-NG-I" "DNA" "blood" "108-gene panel targeted resequencing using MIPs library prep"
"0000385431" "00384206" "1" "00000" "03840" "2021-09-29 13:14:43" "" "" "SEQ-NG-I" "DNA" "blood" "108-gene panel targeted resequencing using MIPs library prep"
"0000385859" "00384631" "1" "00000" "03840" "2021-10-04 12:47:36" "" "" "arraySNP;SEQ" "DNA" "blood" ""
"0000386844" "00385615" "1" "00000" "00008" "2021-10-13 10:28:12" "" "" "arraySNP" "DNA" "" "RD-xip"
"0000387106" "00385878" "1" "00000" "03840" "2021-10-18 10:31:04" "" "" "SEQ-NG-I" "DNA" "blood" ""
"0000387184" "00385956" "1" "00000" "00008" "2021-10-19 12:24:34" "" "" "SEQ-NG;PCR" "DNA" "" ""
"0000387185" "00385957" "1" "00000" "00008" "2021-10-19 12:24:34" "" "" "SEQ-NG;PCR" "DNA" "" ""
"0000387186" "00385958" "1" "00000" "00008" "2021-10-19 12:24:34" "" "" "SEQ-NG;PCR" "DNA" "" ""
"0000387187" "00385959" "1" "00000" "00008" "2021-10-19 12:24:34" "" "" "SEQ-NG;PCR" "DNA" "" ""
"0000387395" "00386166" "1" "00000" "03840" "2021-10-20 11:58:39" "" "" "SEQ-NG-I" "DNA" "blood" ""
"0000387398" "00386169" "1" "00000" "03840" "2021-10-20 11:58:39" "" "" "SEQ-NG-I" "DNA" "blood" ""
"0000387400" "00386171" "1" "00000" "03840" "2021-10-20 11:58:39" "" "" "SEQ-NG-I" "DNA" "blood" ""
"0000387405" "00386176" "1" "00000" "03840" "2021-10-20 11:58:39" "" "" "SEQ-NG-I" "DNA" "blood" ""
"0000387406" "00386177" "1" "00000" "03840" "2021-10-20 11:58:39" "" "" "SEQ-NG-I" "DNA" "blood" ""
"0000387407" "00386178" "1" "00000" "03840" "2021-10-20 11:58:39" "" "" "SEQ-NG-I" "DNA" "blood" ""
"0000387408" "00386179" "1" "00000" "03840" "2021-10-20 11:58:39" "" "" "SEQ-NG-I" "DNA" "blood" ""
"0000387410" "00386181" "1" "00000" "03840" "2021-10-20 11:58:39" "" "" "SEQ-NG-I" "DNA" "blood" ""
"0000387427" "00386198" "1" "00000" "03840" "2021-10-20 11:58:39" "" "" "SEQ-NG-I" "DNA" "blood" ""
"0000387430" "00386201" "1" "00000" "03840" "2021-10-20 11:58:39" "" "" "SEQ-NG-I" "DNA" "blood" ""
"0000387435" "00386206" "1" "00000" "03840" "2021-10-20 11:58:39" "" "" "SEQ-NG-I" "DNA" "blood" ""
"0000387436" "00386207" "1" "00000" "03840" "2021-10-20 11:58:39" "" "" "SEQ-NG-I" "DNA" "blood" ""
"0000387438" "00386209" "1" "00000" "03840" "2021-10-20 11:58:39" "" "" "SEQ-NG-I" "DNA" "blood" ""
"0000387446" "00386217" "1" "00000" "03840" "2021-10-20 11:58:39" "" "" "SEQ-NG-I" "DNA" "blood" ""
"0000387447" "00386218" "1" "00000" "03840" "2021-10-20 11:58:39" "" "" "SEQ-NG-I" "DNA" "blood" ""
"0000387450" "00386221" "1" "00000" "03840" "2021-10-20 11:58:39" "" "" "SEQ-NG-I" "DNA" "blood" ""
"0000387452" "00386223" "1" "00000" "03840" "2021-10-20 11:58:39" "" "" "SEQ-NG-I" "DNA" "blood" ""
"0000387456" "00386227" "1" "00000" "03840" "2021-10-20 11:58:39" "" "" "SEQ-NG-I" "DNA" "blood" ""
"0000387458" "00386229" "1" "00000" "03840" "2021-10-20 11:58:39" "" "" "SEQ-NG-I" "DNA" "blood" ""
"0000387462" "00386233" "1" "00000" "03840" "2021-10-20 11:58:39" "" "" "SEQ-NG-I" "DNA" "blood" ""
"0000387464" "00386235" "1" "00000" "03840" "2021-10-20 11:58:39" "" "" "SEQ-NG-I" "DNA" "blood" ""
"0000387471" "00386242" "1" "00000" "03840" "2021-10-20 11:58:39" "" "" "SEQ-NG-I" "DNA" "blood" ""
"0000387475" "00386246" "1" "00000" "03840" "2021-10-20 11:58:39" "" "" "SEQ-NG-I" "DNA" "blood" ""
"0000387481" "00386252" "1" "00000" "03840" "2021-10-20 11:58:39" "" "" "SEQ-NG-I" "DNA" "blood" ""
"0000387484" "00386255" "1" "00000" "03840" "2021-10-20 11:58:39" "" "" "SEQ-NG-I" "DNA" "blood" ""
"0000387490" "00386261" "1" "00000" "03840" "2021-10-20 11:58:39" "" "" "SEQ-NG-I" "DNA" "blood" ""
"0000387496" "00386267" "1" "00000" "03840" "2021-10-20 11:58:39" "" "" "SEQ-NG-I" "DNA" "blood" ""
"0000387498" "00386269" "1" "00000" "03840" "2021-10-20 11:58:39" "" "" "SEQ-NG-I" "DNA" "blood" ""
"0000387499" "00386270" "1" "00000" "03840" "2021-10-20 11:58:39" "" "" "SEQ-NG-I" "DNA" "blood" ""
"0000387510" "00386281" "1" "00000" "03840" "2021-10-20 11:58:39" "" "" "SEQ-NG-I" "DNA" "blood" ""
"0000387530" "00386301" "1" "00000" "03840" "2021-10-20 11:58:39" "" "" "SEQ-NG-I" "DNA" "blood" ""
"0000387785" "00386557" "1" "00000" "03840" "2021-10-26 11:33:19" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" ""
"0000387919" "00386691" "1" "00000" "03840" "2021-10-26 11:33:19" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" ""
"0000387932" "00386704" "1" "00000" "03840" "2021-10-26 11:33:19" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" ""
"0000387944" "00386716" "1" "00000" "03840" "2021-10-26 11:33:19" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" ""
"0000387947" "00386719" "1" "00000" "03840" "2021-10-26 11:33:19" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" ""
"0000387961" "00386733" "1" "00000" "03840" "2021-10-26 11:33:19" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" ""
"0000387965" "00386737" "1" "00000" "03840" "2021-10-26 11:33:19" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" ""
"0000387981" "00386753" "1" "00000" "03840" "2021-10-26 11:33:19" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" ""
"0000387989" "00386761" "1" "00000" "03840" "2021-10-26 11:33:19" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" ""
"0000387992" "00386764" "1" "00000" "03840" "2021-10-26 11:33:19" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" ""
"0000388001" "00386773" "1" "00000" "03840" "2021-10-26 11:33:19" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" ""
"0000388006" "00386778" "1" "00000" "03840" "2021-10-26 11:33:19" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" ""
"0000388016" "00386788" "1" "00000" "03840" "2021-10-26 11:33:19" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" ""
"0000388034" "00386806" "1" "00000" "03840" "2021-10-26 11:33:19" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" ""
"0000388045" "00386817" "1" "00000" "03840" "2021-10-26 11:33:19" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" ""
"0000388047" "00386819" "1" "00000" "03840" "2021-10-26 11:33:19" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" ""
"0000388064" "00386836" "1" "00000" "03840" "2021-10-26 11:33:19" "" "" "SEQ-NG-I;PCRq" "DNA" "blood" ""
"0000388083" "00386855" "1" "00000" "03840" "2021-10-26 11:33:19" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" ""
"0000388090" "00386862" "1" "00000" "03840" "2021-10-26 11:33:19" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" ""
"0000388091" "00386863" "1" "00000" "03840" "2021-10-26 11:33:19" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" ""
"0000388112" "00386884" "1" "00000" "03840" "2021-10-26 11:33:19" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" ""
"0000388146" "00386918" "1" "00000" "03840" "2021-10-26 17:11:18" "" "" "SEQ-NG;SEQ" "DNA" "blood" ""
"0000388732" "00387506" "1" "00000" "00008" "2021-10-29 21:32:58" "" "" "PE" "DNA" "" ""
"0000388735" "00387509" "1" "00000" "00008" "2021-10-29 21:32:58" "" "" "PE" "DNA" "" ""
"0000388738" "00387512" "1" "00000" "00008" "2021-10-29 21:32:58" "" "" "PE" "DNA" "" ""
"0000388743" "00387517" "1" "00000" "00008" "2021-10-29 21:32:58" "" "" "PE" "DNA" "" ""
"0000388744" "00387518" "1" "00000" "00008" "2021-10-29 21:32:58" "" "" "PE" "DNA" "" ""
"0000389290" "00388051" "1" "00000" "00008" "2021-11-02 00:52:48" "00008" "2021-11-04 08:55:19" "SEQ" "DNA" "blood" ""
"0000389291" "00388052" "1" "00000" "00008" "2021-11-02 00:52:48" "00008" "2021-11-04 08:55:19" "SEQ" "DNA" "blood" ""
"0000389500" "00388261" "1" "00000" "03840" "2021-11-03 12:43:56" "" "" "SEQ-NG" "DNA" "blood;saliva;hair;biopsy" "target gene panels or whole exome sequencing (WES)"
"0000389501" "00388262" "1" "00000" "03840" "2021-11-03 12:43:56" "" "" "SEQ-NG" "DNA" "blood;saliva;hair;biopsy" "target gene panels or whole exome sequencing (WES)"
"0000389504" "00388265" "1" "00000" "03840" "2021-11-03 12:43:56" "" "" "SEQ-NG" "DNA" "blood" "target gene panels or whole exome sequencing (WES)"
"0000389544" "00388303" "1" "00000" "03840" "2021-11-03 23:16:48" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "targeted panel-based next-generation sequencing, 441 hereditary eye disease genes"
"0000389783" "00388541" "1" "00000" "03840" "2021-11-04 19:02:37" "" "" "SEQ-NG-I;SEQ" "DNA" "blood;saliva" "targeted sequencing with 1 of 4 panels of OFTALMOgenics probes"
"0000389800" "00388558" "1" "00000" "03840" "2021-11-04 19:02:37" "" "" "SEQ-NG-I;SEQ" "DNA" "blood;saliva" "targeted sequencing with 1 of 4 panels of OFTALMOgenics probes"
"0000389802" "00388560" "1" "00000" "03840" "2021-11-04 19:02:37" "" "" "SEQ-NG-I;SEQ" "DNA" "blood;saliva" "targeted sequencing with 1 of 4 panels of OFTALMOgenics probes"
"0000389814" "00388572" "1" "00000" "03840" "2021-11-04 19:02:37" "" "" "SEQ-NG-I;SEQ" "DNA" "blood;saliva" "targeted sequencing with 1 of 4 panels of OFTALMOgenics probes"
"0000389816" "00388574" "1" "00000" "03840" "2021-11-04 19:02:37" "" "" "SEQ-NG-I;SEQ" "DNA" "blood;saliva" "targeted sequencing with 1 of 4 panels of OFTALMOgenics probes"
"0000389822" "00388580" "1" "00000" "03840" "2021-11-04 19:02:37" "" "" "SEQ-NG-I;SEQ" "DNA" "blood;saliva" "targeted sequencing with 1 of 4 panels of OFTALMOgenics probes"
"0000389823" "00388581" "1" "00000" "03840" "2021-11-04 19:02:37" "" "" "SEQ-NG-I;SEQ" "DNA" "blood;saliva" "targeted sequencing with 1 of 4 panels of OFTALMOgenics probes"
"0000389824" "00388582" "1" "00000" "03840" "2021-11-04 19:02:37" "" "" "SEQ-NG-I;SEQ" "DNA" "blood;saliva" "targeted sequencing with 1 of 4 panels of OFTALMOgenics probes"
"0000391328" "00390087" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing"
"0000391329" "00390088" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing"
"0000391330" "00390089" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing"
"0000391331" "00390090" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing"
"0000391332" "00390091" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing"
"0000391333" "00390092" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing"
"0000391334" "00390093" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing"
"0000391335" "00390094" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing"
"0000391336" "00390095" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing"
"0000391337" "00390096" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing"
"0000391338" "00390097" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing"
"0000391339" "00390098" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing"
"0000391340" "00390099" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing"
"0000391341" "00390100" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing"
"0000391342" "00390101" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing"
"0000391343" "00390102" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing"
"0000391344" "00390103" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing"
"0000391345" "00390104" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing"
"0000391346" "00390105" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing"
"0000391347" "00390106" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing"
"0000391348" "00390107" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing"
"0000391349" "00390108" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing"
"0000391350" "00390109" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing"
"0000391351" "00390110" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing"
"0000391352" "00390111" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing"
"0000391353" "00390112" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing"
"0000391354" "00390113" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing"
"0000391355" "00390114" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing"
"0000391356" "00390115" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing"
"0000391357" "00390116" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing"
"0000391358" "00390117" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing"
"0000391359" "00390118" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing"
"0000391360" "00390119" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing"
"0000391361" "00390120" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing"
"0000391362" "00390121" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing"
"0000391363" "00390122" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing"
"0000391364" "00390123" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing"
"0000391365" "00390124" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing"
"0000391366" "00390125" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing"
"0000391367" "00390126" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing"
"0000391368" "00390127" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing"
"0000391369" "00390128" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing"
"0000391370" "00390129" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing"
"0000391371" "00390130" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing"
"0000391372" "00390131" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing"
"0000391373" "00390132" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing"
"0000391374" "00390133" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing"
"0000391375" "00390134" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing"
"0000391376" "00390135" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing"
"0000391377" "00390136" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing"
"0000391378" "00390137" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing"
"0000391379" "00390138" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing"
"0000391380" "00390139" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing"
"0000391381" "00390140" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing"
"0000391382" "00390141" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing"
"0000391383" "00390142" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing"
"0000391384" "00390143" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing"
"0000391385" "00390144" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing"
"0000391386" "00390145" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing"
"0000391387" "00390146" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing"
"0000391388" "00390147" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing"
"0000391389" "00390148" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing"
"0000391390" "00390149" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing"
"0000391391" "00390150" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing"
"0000391392" "00390151" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing"
"0000391393" "00390152" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing"
"0000391394" "00390153" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing"
"0000391395" "00390154" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing"
"0000391396" "00390155" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing"
"0000392033" "00390792" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "arraySEQ" "DNA" "Blood" ""
"0000392036" "00390795" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "arraySEQ" "DNA" "Blood" ""
"0000392043" "00390802" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "arraySEQ" "DNA" "Blood" ""
"0000392081" "00390840" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "SEQ" "DNA" "" ""
"0000392083" "00390842" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "SEQ" "DNA" "" ""
"0000392084" "00390843" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "SEQ" "DNA" "" ""
"0000392086" "00390845" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "SEQ" "DNA" "" ""
"0000392087" "00390846" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "SEQ" "DNA" "" ""
"0000392088" "00390847" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "SEQ" "DNA" "" ""
"0000392089" "00390848" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "SEQ" "DNA" "" ""
"0000392090" "00390849" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "SEQ" "DNA" "" ""
"0000392095" "00390854" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "SEQ" "DNA" "" ""
"0000392097" "00390856" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "PCRlr" "DNA" "" ""
"0000392101" "00390860" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "SEQ" "DNA" "" ""
"0000392102" "00390861" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "SEQ" "DNA" "" ""
"0000392103" "00390862" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "SEQ" "DNA" "" ""
"0000392105" "00390864" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "SEQ" "DNA" "" ""
"0000392106" "00390865" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "SEQ" "DNA" "" ""
"0000392109" "00390868" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "SEQ" "DNA" "" ""
"0000392112" "00390871" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "SEQ" "DNA" "" ""
"0000392119" "00390878" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "SEQ" "DNA" "" ""
"0000392121" "00390880" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "SEQ" "DNA" "" ""
"0000392123" "00390882" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "SEQ" "DNA" "" ""
"0000392124" "00390883" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "SEQ" "DNA" "" ""
"0000392125" "00390884" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "SEQ" "DNA" "" ""
"0000392126" "00390885" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "SEQ" "DNA" "" ""
"0000392127" "00390886" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "SEQ" "DNA" "" ""
"0000392128" "00390887" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "SEQ" "DNA" "" ""
"0000392129" "00390888" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "SEQ" "DNA" "" ""
"0000392130" "00390889" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "SEQ" "DNA" "" ""
"0000392131" "00390890" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "PCRlr" "DNA" "" ""
"0000392132" "00390891" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "SEQ" "DNA" "" ""
"0000392139" "00390898" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "SEQ" "DNA" "" ""
"0000392141" "00390900" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "SEQ" "DNA" "" ""
"0000392142" "00390901" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "SEQ" "DNA" "" ""
"0000392143" "00390902" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "SEQ" "DNA" "" ""
"0000392144" "00390903" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "SEQ" "DNA" "" ""
"0000392145" "00390904" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "SEQ" "DNA" "" ""
"0000392148" "00390907" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "SEQ" "DNA" "" ""
"0000392149" "00390908" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "SEQ" "DNA" "" ""
"0000392152" "00390911" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "SEQ" "DNA" "" ""
"0000392153" "00390912" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "SEQ" "DNA" "" ""
"0000392154" "00390913" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "SEQ" "DNA" "" ""
"0000392156" "00390915" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "SEQ" "DNA" "" ""
"0000392158" "00390917" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "SEQ" "DNA" "" ""
"0000392159" "00390918" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "SEQ" "DNA" "" ""
"0000392161" "00390920" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "PCRlr" "DNA" "" ""
"0000392162" "00390921" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "SEQ" "DNA" "" ""
"0000392164" "00390923" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "SEQ" "DNA" "" ""
"0000392167" "00390926" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "SEQ" "DNA" "" ""
"0000392168" "00390927" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "SEQ" "DNA" "" ""
"0000392170" "00390929" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "SEQ" "DNA" "" ""
"0000392174" "00390933" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "SEQ" "DNA" "" ""
"0000392175" "00390934" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "SEQ" "DNA" "" ""
"0000392176" "00390935" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "SEQ" "DNA" "" ""
"0000392181" "00390940" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "SEQ" "DNA" "" ""
"0000392187" "00390946" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "SEQ" "DNA" "" ""
"0000392190" "00390949" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "SEQ" "DNA" "" ""
"0000392192" "00390951" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "SEQ" "DNA" "" ""
"0000392194" "00390953" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "SEQ" "DNA" "" ""
"0000392197" "00390956" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "SEQ" "DNA" "" ""
"0000392198" "00390957" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "SEQ" "DNA" "" ""
"0000392200" "00390959" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "SEQ" "DNA" "" ""
"0000392201" "00390960" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "SEQ" "DNA" "" ""
"0000392205" "00390964" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "SEQ" "DNA" "" ""
"0000392206" "00390965" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "SEQ" "DNA" "" ""
"0000392207" "00390966" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "SEQ" "DNA" "" ""
"0000392210" "00390969" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "SEQ" "DNA" "" ""
"0000392211" "00390970" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "SEQ" "DNA" "" ""
"0000392215" "00390974" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "SEQ" "DNA" "" ""
"0000392216" "00390975" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "SEQ" "DNA" "" ""
"0000392217" "00390976" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "SEQ" "DNA" "" ""
"0000392219" "00390978" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "SEQ" "DNA" "" ""
"0000392223" "00390982" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "SEQ" "DNA" "" ""
"0000392228" "00390987" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "SEQ" "DNA" "" ""
"0000392231" "00390990" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "SEQ" "DNA" "" ""
"0000392235" "00390994" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "SEQ" "DNA" "" ""
"0000392236" "00390995" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "SEQ" "DNA" "" ""
"0000392237" "00390996" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "SEQ" "DNA" "" ""
"0000392241" "00391000" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "SEQ" "DNA" "" ""
"0000392242" "00391001" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "SEQ" "DNA" "" ""
"0000392243" "00391002" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "SEQ" "DNA" "" ""
"0000392244" "00391003" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "SEQ" "DNA" "" ""
"0000392245" "00391004" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "SEQ" "DNA" "" ""
"0000392246" "00391005" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "SEQ" "DNA" "" ""
"0000392249" "00391008" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "PCRlr" "DNA" "" ""
"0000392251" "00391010" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "SEQ" "DNA" "" ""
"0000392252" "00391011" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "SEQ" "DNA" "" ""
"0000392253" "00391012" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "SEQ" "DNA" "" ""
"0000392254" "00391013" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "SEQ" "DNA" "" ""
"0000392255" "00391014" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "SEQ" "DNA" "" ""
"0000392256" "00391015" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "SEQ" "DNA" "" ""
"0000392434" "00391192" "1" "00000" "03840" "2021-11-13 11:00:19" "" "" "SEQ-NG-I" "DNA" "blood" "whole exome sequencing"
"0000392832" "00391590" "1" "04206" "04206" "2021-11-18 09:12:09" "" "" "SEQ-NG-I" "DNA" "blood" ""
"0000392833" "00391591" "1" "04206" "04206" "2021-11-18 10:07:23" "" "" "SEQ-NG-I" "DNA" "" ""
"0000393381" "00392139" "1" "00000" "03840" "2021-11-21 15:06:43" "" "" "SEQ-NG" "DNA" "blood" "custom panel of 117 IRD-associated genes"
"0000393382" "00392140" "1" "00000" "03840" "2021-11-21 15:06:43" "" "" "SEQ-NG" "DNA" "blood" "custom panel of 117 IRD-associated genes"
"0000393406" "00392164" "1" "00000" "03840" "2021-11-21 15:43:04" "" "" "SEQ-NG" "DNA" "blood" "custom panel of 117 IRD-associated genes"
"0000393407" "00392165" "1" "00000" "03840" "2021-11-21 15:43:04" "" "" "SEQ-NG" "DNA" "blood" "custom panel of 117 IRD-associated genes"
"0000393746" "00392504" "1" "04206" "04206" "2021-11-23 04:19:16" "" "" "SEQ-NG-I" "DNA" "" ""
"0000393747" "00392283" "1" "04206" "04206" "2021-11-23 06:33:57" "" "" "SEQ-NG-I" "DNA" "" ""
"0000393748" "00391590" "1" "04206" "04206" "2021-11-23 06:51:54" "" "" "SEQ-NG-I" "DNA" "" ""
"0000393749" "00391591" "1" "04206" "04206" "2021-11-23 06:58:17" "" "" "SEQ-NG-I" "DNA" "" ""
"0000393750" "00392505" "1" "04206" "04206" "2021-11-23 07:09:30" "" "" "SEQ-NG-I" "DNA" "" ""
"0000393751" "00392506" "1" "04206" "04206" "2021-11-23 07:20:06" "" "" "SEQ-NG-I" "DNA" "" ""
"0000393752" "00392507" "1" "04206" "04206" "2021-11-23 07:38:33" "" "" "SEQ-NG-I" "DNA" "" ""
"0000393753" "00392508" "1" "04206" "04206" "2021-11-23 07:45:55" "" "" "SEQ-NG-I" "DNA" "" ""
"0000393754" "00392509" "1" "04206" "04206" "2021-11-23 07:55:41" "" "" "SEQ-NG-I" "DNA" "" ""
"0000393755" "00392510" "1" "04206" "04206" "2021-11-23 08:02:01" "" "" "SEQ-NG-I" "DNA" "" ""
"0000393756" "00392511" "1" "04206" "04206" "2021-11-23 08:07:32" "" "" "SEQ-NG-I" "DNA" "" ""
"0000393760" "00392515" "1" "04206" "04206" "2021-11-23 08:50:35" "" "" "SEQ-NG-I" "DNA" "" ""
"0000393762" "00392517" "1" "04206" "04206" "2021-11-23 08:56:00" "" "" "SEQ-NG-I" "DNA" "" ""
"0000393765" "00392521" "1" "04206" "04206" "2021-11-23 09:01:46" "" "" "SEQ-NG-I" "DNA" "" ""
"0000393774" "00392521" "1" "04206" "04206" "2021-11-23 09:19:24" "" "" "SEQ-NG-I" "DNA" "" ""
"0000393777" "00392531" "1" "04206" "04206" "2021-11-23 09:23:26" "" "" "SEQ-NG-I" "DNA" "" ""
"0000393782" "00392536" "1" "04206" "04206" "2021-11-23 09:30:25" "" "" "SEQ-NG-I" "DNA" "" ""
"0000393784" "00392536" "1" "04206" "04206" "2021-11-23 09:34:10" "" "" "SEQ-NG-I" "DNA" "" ""
"0000393787" "00392541" "1" "04206" "04206" "2021-11-23 09:37:38" "" "" "SEQ-NG-I" "DNA" "" ""
"0000393789" "00392543" "1" "04206" "04206" "2021-11-23 09:45:44" "" "" "SEQ-NG-I" "DNA" "" ""
"0000393793" "00392547" "1" "04206" "04206" "2021-11-23 09:52:05" "" "" "SEQ-NG-I" "DNA" "" ""
"0000393797" "00392550" "1" "04206" "04206" "2021-11-23 10:02:28" "" "" "SEQ-NG-I" "DNA" "" ""
"0000393811" "00392564" "1" "00000" "03840" "2021-11-23 15:06:01" "" "" "SEQ-NG-I;SEQ" "DNA" "" "whole exome sequencing"
"0000393819" "00392572" "1" "00000" "03840" "2021-11-23 15:06:01" "" "" "SEQ-NG-I;SEQ" "DNA" "" "whole exome sequencing"
"0000393820" "00392573" "1" "00000" "03840" "2021-11-23 15:06:01" "" "" "SEQ-NG-I;SEQ" "DNA" "" "whole exome sequencing"
"0000393832" "00392585" "1" "00000" "03840" "2021-11-23 15:06:01" "" "" "SEQ-NG-I;SEQ" "DNA" "" "whole exome sequencing"
"0000393835" "00392588" "1" "00000" "03840" "2021-11-23 15:06:01" "" "" "SEQ-NG-I;SEQ" "DNA" "" "whole exome sequencing"
"0000393852" "00392605" "1" "00000" "03840" "2021-11-23 15:06:01" "" "" "SEQ-NG-I;SEQ" "DNA" "" "whole exome sequencing"
"0000393859" "00392612" "1" "00000" "03840" "2021-11-23 15:06:01" "" "" "SEQ-NG-I;SEQ" "DNA" "" "whole exome sequencing"
"0000393860" "00392613" "1" "00000" "03840" "2021-11-23 15:06:01" "" "" "SEQ-NG-I;SEQ" "DNA" "" "whole exome sequencing"
"0000393864" "00392617" "1" "00000" "03840" "2021-11-23 15:06:01" "" "" "SEQ-NG-I;SEQ" "DNA" "" "whole exome sequencing"
"0000393865" "00392618" "1" "00000" "03840" "2021-11-23 15:06:01" "" "" "SEQ-NG-I;SEQ" "DNA" "" "whole exome sequencing"
"0000393866" "00392619" "1" "00000" "03840" "2021-11-23 15:06:01" "" "" "SEQ-NG-I;SEQ" "DNA" "" "whole exome sequencing"
"0000393870" "00392623" "1" "00000" "03840" "2021-11-23 15:06:01" "" "" "SEQ-NG-I;SEQ" "DNA" "" "whole exome sequencing"
"0000393871" "00392624" "1" "00000" "03840" "2021-11-23 15:06:01" "" "" "SEQ-NG-I;SEQ" "DNA" "" "whole exome sequencing"
"0000393880" "00392633" "1" "00000" "03840" "2021-11-23 15:06:01" "" "" "SEQ-NG-I;SEQ" "DNA" "" "whole exome sequencing"
"0000393890" "00392643" "1" "00000" "03840" "2021-11-23 15:06:01" "" "" "SEQ-NG-I;SEQ" "DNA" "" "whole exome sequencing"
"0000393918" "00392671" "1" "00000" "03840" "2021-11-23 15:06:01" "" "" "SEQ-NG-I;SEQ" "DNA" "" "whole exome sequencing"
"0000393998" "00392751" "1" "04206" "04206" "2021-11-24 01:26:11" "" "" "SEQ-NG-I" "DNA" "" ""
"0000393999" "00392752" "1" "04206" "04206" "2021-11-24 01:31:07" "" "" "SEQ-NG-I" "DNA" "" ""
"0000394000" "00392753" "1" "04206" "04206" "2021-11-24 01:34:31" "" "" "SEQ-NG-I" "DNA" "" ""
"0000394001" "00392754" "1" "04206" "04206" "2021-11-24 01:39:11" "" "" "SEQ-NG-I" "DNA" "" ""
"0000394002" "00392755" "1" "04206" "04206" "2021-11-24 01:46:41" "" "" "SEQ-NG-I" "DNA" "" ""
"0000394003" "00392756" "1" "04206" "04206" "2021-11-24 01:56:53" "" "" "SEQ-NG-I" "DNA" "" ""
"0000394004" "00392757" "1" "04206" "04206" "2021-11-24 02:02:52" "" "" "SEQ-NG-I" "DNA" "" ""
"0000394005" "00392758" "1" "04206" "04206" "2021-11-24 02:06:39" "" "" "SEQ-NG-I" "DNA" "" ""
"0000394006" "00392759" "1" "04206" "04206" "2021-11-24 02:10:29" "" "" "SEQ-NG-I" "DNA" "" ""
"0000394007" "00392760" "1" "04206" "04206" "2021-11-24 02:16:02" "" "" "SEQ-NG-I" "DNA" "" ""
"0000394008" "00392761" "1" "04206" "04206" "2021-11-24 02:23:14" "" "" "SEQ-NG-I" "DNA" "" ""
"0000394009" "00392762" "1" "04206" "04206" "2021-11-24 02:26:26" "" "" "SEQ-NG-I" "DNA" "" ""
"0000394010" "00392763" "1" "04206" "04206" "2021-11-24 02:30:46" "" "" "SEQ-NG-I" "DNA" "" ""
"0000394557" "00393309" "1" "00000" "03840" "2021-11-29 11:52:56" "" "" "SEQ" "DNA" "blood" "whole exome sequencing"
"0000394558" "00393310" "1" "00000" "03840" "2021-11-29 11:52:56" "" "" "SEQ" "DNA" "blood" "whole exome sequencing"
"0000394559" "00393311" "1" "00000" "03840" "2021-11-29 11:52:56" "" "" "SEQ" "DNA" "blood" "whole exome sequencing"
"0000394560" "00393312" "1" "00000" "03840" "2021-11-29 11:52:56" "" "" "SEQ" "DNA" "blood" "whole exome sequencing"
"0000394563" "00393315" "1" "00000" "03840" "2021-11-29 11:52:56" "" "" "SEQ" "DNA" "blood" "whole exome sequencing"
"0000394564" "00393316" "1" "00000" "03840" "2021-11-29 11:52:56" "" "" "SEQ" "DNA" "blood" "whole exome sequencing"
"0000394565" "00393317" "1" "00000" "03840" "2021-11-29 11:52:56" "" "" "SEQ" "DNA" "blood" "whole exome sequencing"
"0000394566" "00393318" "1" "00000" "03840" "2021-11-29 11:52:56" "" "" "SEQ" "DNA" "blood" "whole exome sequencing"
"0000394567" "00393319" "1" "00000" "03840" "2021-11-29 11:52:56" "" "" "SEQ" "DNA" "blood" "whole exome sequencing"
"0000394568" "00393320" "1" "00000" "03840" "2021-11-29 11:52:56" "" "" "SEQ" "DNA" "blood" "whole exome sequencing"
"0000394569" "00393321" "1" "00000" "03840" "2021-11-29 11:52:56" "" "" "SEQ" "DNA" "blood" "whole exome sequencing"
"0000394570" "00393322" "1" "00000" "03840" "2021-11-29 11:52:56" "" "" "SEQ" "DNA" "blood" "whole exome sequencing"
"0000394571" "00393323" "1" "00000" "03840" "2021-11-29 11:52:56" "" "" "SEQ" "DNA" "blood" "whole exome sequencing"
"0000394572" "00393324" "1" "00000" "03840" "2021-11-29 11:52:56" "" "" "SEQ" "DNA" "blood" "whole exome sequencing"
"0000394573" "00393325" "1" "00000" "03840" "2021-11-29 11:52:56" "" "" "SEQ" "DNA" "blood" "whole exome sequencing"
"0000394574" "00393326" "1" "00000" "03840" "2021-11-29 11:52:56" "" "" "SEQ" "DNA" "blood" "whole exome sequencing"
"0000394575" "00393327" "1" "00000" "03840" "2021-11-29 11:52:56" "" "" "SEQ" "DNA" "blood" "whole exome sequencing"
"0000394576" "00393328" "1" "00000" "03840" "2021-11-29 11:52:56" "" "" "SEQ" "DNA" "blood" "whole exome sequencing"
"0000394577" "00393329" "1" "00000" "03840" "2021-11-29 11:52:56" "" "" "SEQ" "DNA" "blood" "whole exome sequencing"
"0000394700" "00393452" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ-NG" "DNA" "" "hereditary eye disease enrichment panel (HEDEP)"
"0000394717" "00393469" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ-NG" "DNA" "" "hereditary eye disease enrichment panel (HEDEP)"
"0000394736" "00393488" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ-NG" "DNA" "" "WES"
"0000394774" "00393526" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ-NG" "DNA" "" "hereditary eye disease enrichment panel (HEDEP)"
"0000394775" "00393527" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ-NG" "DNA" "" "hereditary eye disease enrichment panel (HEDEP)"
"0000394843" "00393595" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ-NG" "DNA" "" "hereditary eye disease enrichment panel (HEDEP)"
"0000394861" "00393613" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ-NG" "DNA" "" "hereditary eye disease enrichment panel (HEDEP)"
"0000394876" "00393628" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ-NG" "DNA" "" "hereditary eye disease enrichment panel (HEDEP)"
"0000394898" "00393650" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ-NG" "DNA" "" "hereditary eye disease enrichment panel (HEDEP)"
"0000394910" "00393662" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ-NG" "DNA" "" "hereditary eye disease enrichment panel (HEDEP)"
"0000394911" "00393663" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ-NG;MLPA" "DNA" "" "hereditary eye disease enrichment panel (HEDEP)"
"0000394926" "00393678" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ-NG" "DNA" "" "hereditary eye disease enrichment panel (HEDEP)"
"0000394930" "00393682" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ-NG" "DNA" "" "hereditary eye disease enrichment panel (HEDEP)"
"0000394932" "00393684" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ-NG" "DNA" "" "hereditary eye disease enrichment panel (HEDEP)"
"0000394933" "00393685" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ-NG" "DNA" "" "hereditary eye disease enrichment panel (HEDEP)"
"0000394951" "00393703" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ-NG" "DNA" "" "hereditary eye disease enrichment panel (HEDEP)"
"0000394952" "00393704" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ-NG" "DNA" "" "hereditary eye disease enrichment panel (HEDEP)"
"0000394953" "00393705" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ-NG" "DNA" "" "hereditary eye disease enrichment panel (HEDEP)"
"0000394974" "00393726" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ-NG" "DNA" "" "hereditary eye disease enrichment panel (HEDEP)"
"0000394977" "00393729" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ-NG" "DNA" "" "hereditary eye disease enrichment panel (HEDEP)"
"0000394979" "00393731" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ-NG" "DNA" "" "hereditary eye disease enrichment panel (HEDEP)"
"0000394985" "00393737" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ-NG" "DNA" "" "hereditary eye disease enrichment panel (HEDEP)"
"0000395001" "00393753" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ-NG" "DNA" "" "hereditary eye disease enrichment panel (HEDEP)"
"0000395011" "00393763" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ-NG" "DNA" "" "hereditary eye disease enrichment panel (HEDEP)"
"0000395013" "00393765" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ-NG" "DNA" "" "hereditary eye disease enrichment panel (HEDEP)"
"0000395014" "00393766" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ-NG" "DNA" "" "hereditary eye disease enrichment panel (HEDEP)"
"0000395025" "00393777" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ-NG" "DNA" "" "hereditary eye disease enrichment panel (HEDEP)"
"0000395027" "00393779" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ-NG" "DNA" "" "hereditary eye disease enrichment panel (HEDEP)"
"0000395032" "00393784" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ-NG" "DNA" "" "hereditary eye disease enrichment panel (HEDEP)"
"0000395035" "00393787" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ-NG" "DNA" "" "hereditary eye disease enrichment panel (HEDEP)"
"0000395052" "00393804" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ-NG" "DNA" "" "hereditary eye disease enrichment panel (HEDEP)"
"0000395055" "00393807" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ-NG" "DNA" "" "hereditary eye disease enrichment panel (HEDEP)"
"0000395065" "00393817" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ-NG" "DNA" "" "hereditary eye disease enrichment panel (HEDEP)"
"0000395071" "00393823" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ-NG" "DNA" "" "hereditary eye disease enrichment panel (HEDEP)"
"0000395083" "00393835" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ-NG" "DNA" "" "hereditary eye disease enrichment panel (HEDEP)"
"0000395090" "00393842" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ-NG" "DNA" "" "hereditary eye disease enrichment panel (HEDEP)"
"0000395115" "00393867" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ-NG" "DNA" "" "hereditary eye disease enrichment panel (HEDEP)"
"0000395118" "00393870" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ-NG" "DNA" "" "hereditary eye disease enrichment panel (HEDEP)"
"0000395125" "00393877" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ-NG" "DNA" "" "hereditary eye disease enrichment panel (HEDEP)"
"0000395137" "00393889" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ-NG" "DNA" "" "hereditary eye disease enrichment panel (HEDEP)"
"0000395140" "00393892" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ-NG;SEQ" "DNA" "" "hereditary eye disease enrichment panel (HEDEP)"
"0000395142" "00393894" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ-NG" "DNA" "" "hereditary eye disease enrichment panel (HEDEP)"
"0000395143" "00393895" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ-NG;SEQ" "DNA" "" "hereditary eye disease enrichment panel (HEDEP)"
"0000395146" "00393898" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ-NG" "DNA" "" "hereditary eye disease enrichment panel (HEDEP)"
"0000395147" "00393899" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ-NG" "DNA" "" "hereditary eye disease enrichment panel (HEDEP)"
"0000395156" "00393908" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ-NG" "DNA" "" "hereditary eye disease enrichment panel (HEDEP)"
"0000395159" "00393911" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ-NG" "DNA" "" "hereditary eye disease enrichment panel (HEDEP)"
"0000395163" "00393915" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ-NG" "DNA" "" "hereditary eye disease enrichment panel (HEDEP)"
"0000395247" "00393999" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ-NG;arraySNP;PCR;SEQ" "DNA" "blood" "WES"
"0000395251" "00394003" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ-NG;PCR;SEQ" "DNA" "blood" "WES"
"0000395252" "00394004" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ-NG;PCR;SEQ" "DNA" "blood" "WES"
"0000395583" "00394336" "1" "00000" "03840" "2021-12-01 10:17:04" "" "" "SEQ-NG" "DNA" "" "retrospective analysis"
"0000395584" "00394337" "1" "00000" "03840" "2021-12-01 10:17:04" "" "" "SEQ-NG" "DNA" "" "retrospective analysis"
"0000395585" "00394338" "1" "00000" "03840" "2021-12-01 10:17:04" "" "" "SEQ-NG" "DNA" "" "retrospective analysis"
"0000395586" "00394339" "1" "00000" "03840" "2021-12-01 10:17:04" "" "" "SEQ-NG" "DNA" "" "retrospective analysis"
"0000395587" "00394340" "1" "00000" "03840" "2021-12-01 10:17:04" "" "" "SEQ-NG" "DNA" "" "retrospective analysis"
"0000395588" "00394341" "1" "00000" "03840" "2021-12-01 10:17:04" "" "" "SEQ-NG" "DNA" "" "retrospective analysis"
"0000395589" "00394342" "1" "00000" "03840" "2021-12-01 10:17:04" "" "" "SEQ-NG" "DNA" "" "retrospective analysis"
"0000395590" "00394343" "1" "00000" "03840" "2021-12-01 10:17:04" "" "" "SEQ-NG" "DNA" "" "retrospective analysis"
"0000395591" "00394344" "1" "00000" "03840" "2021-12-01 10:17:04" "" "" "SEQ-NG" "DNA" "" "retrospective analysis"
"0000395592" "00394345" "1" "00000" "03840" "2021-12-01 10:17:04" "" "" "SEQ-NG" "DNA" "" "retrospective analysis"
"0000396456" "00395210" "1" "00000" "03840" "2021-12-03 19:39:26" "" "" "SEQ-NG-I" "DNA" "blood" "Trusight One"
"0000396457" "00395211" "1" "00000" "03840" "2021-12-03 19:39:26" "" "" "SEQ-NG-I" "DNA" "blood" "Trusight One"
"0000396458" "00395212" "1" "00000" "03840" "2021-12-03 19:39:26" "" "" "SEQ-NG-I" "DNA" "blood" "Trusight One"
"0000396459" "00395213" "1" "00000" "03840" "2021-12-03 19:39:26" "" "" "SEQ-NG-I" "DNA" "blood" "Trusight One"
"0000396460" "00395214" "1" "00000" "03840" "2021-12-03 19:39:26" "" "" "SEQ-NG-I" "DNA" "blood" "Trusight One"
"0000396461" "00395215" "1" "00000" "03840" "2021-12-03 19:39:26" "" "" "SEQ-NG-I" "DNA" "blood" "Trusight One"
"0000396462" "00395216" "1" "00000" "03840" "2021-12-03 19:39:26" "" "" "SEQ-NG-I" "DNA" "blood" "Trusight One"
"0000396463" "00395217" "1" "00000" "03840" "2021-12-03 19:39:26" "" "" "SEQ-NG-I" "DNA" "blood" "Trusight One"
"0000396464" "00395218" "1" "00000" "03840" "2021-12-03 19:39:26" "" "" "SEQ-NG-I" "DNA" "blood" "Trusight One"
"0000396465" "00395219" "1" "00000" "03840" "2021-12-03 19:39:26" "" "" "SEQ-NG-I" "DNA" "blood" "Trusight One"
"0000396466" "00395220" "1" "00000" "03840" "2021-12-03 19:39:26" "" "" "SEQ-NG-I" "DNA" "blood" "Trusight One"
"0000396669" "00395431" "1" "00000" "03840" "2021-12-06 18:34:43" "" "" "?" "DNA" "" "retrospective analysis"
"0000396670" "00395432" "1" "00000" "03840" "2021-12-06 18:34:43" "" "" "?" "DNA" "" "retrospective analysis"
"0000396671" "00395433" "1" "00000" "03840" "2021-12-06 18:34:43" "" "" "?" "DNA" "" "retrospective analysis"
"0000396987" "00395748" "1" "00000" "03840" "2021-12-09 13:32:39" "" "" "SEQ-NG" "DNA" "blood" "212 inherited retinal disease-related genes"
"0000396988" "00395749" "1" "00000" "03840" "2021-12-09 13:32:39" "" "" "SEQ-NG" "DNA" "blood" "212 inherited retinal disease-related genes"
"0000397009" "00395770" "1" "00000" "03840" "2021-12-09 13:32:39" "" "" "SEQ-NG" "DNA" "blood" "212 inherited retinal disease-related genes"
"0000397011" "00395772" "1" "00000" "03840" "2021-12-09 13:32:39" "" "" "SEQ-NG" "DNA" "blood" "212 inherited retinal disease-related genes"
"0000397014" "00395775" "1" "00000" "03840" "2021-12-09 13:32:39" "" "" "SEQ-NG" "DNA" "blood" "212 inherited retinal disease-related genes"
"0000397019" "00395780" "1" "00000" "03840" "2021-12-09 13:32:39" "" "" "SEQ-NG" "DNA" "blood" "212 inherited retinal disease-related genes"
"0000397020" "00395781" "1" "00000" "03840" "2021-12-09 13:32:39" "" "" "SEQ-NG" "DNA" "blood" "212 inherited retinal disease-related genes"
"0000397024" "00395785" "1" "00000" "03840" "2021-12-09 13:32:39" "" "" "SEQ-NG" "DNA" "blood" "212 inherited retinal disease-related genes"
"0000397027" "00395788" "1" "00000" "03840" "2021-12-09 13:32:39" "" "" "SEQ-NG" "DNA" "blood" "212 inherited retinal disease-related genes"
"0000397029" "00395790" "1" "00000" "03840" "2021-12-09 13:32:39" "" "" "SEQ-NG" "DNA" "blood" "212 inherited retinal disease-related genes"
"0000397037" "00395798" "1" "00000" "03840" "2021-12-09 13:32:39" "" "" "SEQ-NG" "DNA" "blood" "212 inherited retinal disease-related genes"
"0000397039" "00395800" "1" "00000" "03840" "2021-12-09 13:32:39" "" "" "SEQ-NG" "DNA" "blood" "212 inherited retinal disease-related genes"
"0000397040" "00395801" "1" "00000" "03840" "2021-12-09 13:32:39" "" "" "SEQ-NG" "DNA" "blood" "212 inherited retinal disease-related genes"
"0000397041" "00395802" "1" "00000" "03840" "2021-12-09 13:32:39" "" "" "SEQ-NG" "DNA" "blood" "212 inherited retinal disease-related genes"
"0000397042" "00395803" "1" "00000" "03840" "2021-12-09 13:32:39" "" "" "SEQ-NG" "DNA" "blood" "212 inherited retinal disease-related genes"
"0000397043" "00395804" "1" "00000" "03840" "2021-12-09 13:32:39" "" "" "SEQ-NG" "DNA" "blood" "212 inherited retinal disease-related genes"
"0000397058" "00395819" "1" "00000" "03840" "2021-12-09 13:32:39" "" "" "SEQ-NG" "DNA" "blood" "212 inherited retinal disease-related genes"
"0000397059" "00395820" "1" "00000" "03840" "2021-12-09 13:32:39" "" "" "SEQ-NG" "DNA" "blood" "212 inherited retinal disease-related genes"
"0000397060" "00395821" "1" "00000" "03840" "2021-12-09 13:32:39" "" "" "SEQ-NG" "DNA" "blood" "212 inherited retinal disease-related genes"
"0000397061" "00395822" "1" "00000" "03840" "2021-12-09 13:32:39" "" "" "SEQ-NG" "DNA" "blood" "212 inherited retinal disease-related genes"
"0000397062" "00395823" "1" "00000" "03840" "2021-12-09 13:32:39" "" "" "SEQ-NG" "DNA" "blood" "212 inherited retinal disease-related genes"
"0000397063" "00395824" "1" "00000" "03840" "2021-12-09 13:32:39" "" "" "SEQ-NG" "DNA" "blood" "212 inherited retinal disease-related genes"
"0000397064" "00395825" "1" "00000" "03840" "2021-12-09 13:32:39" "" "" "SEQ-NG" "DNA" "blood" "212 inherited retinal disease-related genes"
"0000397065" "00395826" "1" "00000" "03840" "2021-12-09 13:32:39" "" "" "SEQ-NG" "DNA" "blood" "212 inherited retinal disease-related genes"
"0000397070" "00395831" "1" "00000" "03840" "2021-12-09 13:32:39" "" "" "SEQ-NG" "DNA" "blood" "212 inherited retinal disease-related genes"
"0000397083" "00395844" "1" "00000" "03840" "2021-12-09 13:32:39" "" "" "SEQ-NG" "DNA" "blood" "212 inherited retinal disease-related genes"
"0000397141" "00395902" "1" "00000" "03840" "2021-12-09 13:32:39" "" "" "SEQ-NG" "DNA" "blood" "212 inherited retinal disease-related genes"
"0000397150" "00395911" "1" "00000" "03840" "2021-12-09 13:32:39" "" "" "SEQ-NG" "DNA" "blood" "212 inherited retinal disease-related genes"
"0000397160" "00395921" "1" "00000" "03840" "2021-12-09 13:32:39" "" "" "SEQ-NG" "DNA" "blood" "212 inherited retinal disease-related genes"
"0000397652" "00396411" "1" "00006" "00006" "2021-12-15 14:29:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS"
"0000397653" "00396412" "1" "00006" "00006" "2021-12-15 14:29:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS"
"0000397654" "00396413" "1" "00006" "00006" "2021-12-15 14:29:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS"
"0000397659" "00396418" "1" "00006" "00006" "2021-12-15 14:29:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS"
"0000397664" "00396423" "1" "00006" "00006" "2021-12-15 14:29:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS"
"0000397668" "00396427" "1" "00006" "00006" "2021-12-15 14:29:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS"
"0000397717" "00396474" "1" "00000" "03840" "2021-12-16 12:35:05" "" "" "SEQ-NG-I" "DNA" "blood" "panel of 254 genes implicated in retinopathies"
"0000397718" "00396475" "1" "00000" "03840" "2021-12-16 12:35:05" "" "" "SEQ-NG-I" "DNA" "blood" "panel of 254 genes implicated in retinopathies"
"0000397721" "00396478" "1" "00000" "03840" "2021-12-16 12:35:05" "" "" "SEQ-NG-I" "DNA" "blood" "panel of 254 genes implicated in retinopathies"
"0000401121" "00399878" "1" "00000" "00008" "2022-01-24 10:46:49" "" "" "PE;SSCA;SEQ" "DNA" "" ""
"0000401122" "00399879" "1" "00000" "00008" "2022-01-24 10:46:49" "" "" "PE;SSCA;SEQ" "DNA" "" ""
"0000401123" "00399880" "0" "00008" "00008" "2022-01-24 10:46:49" "" "" "PE;SSCA;SEQ" "DNA" "" ""
"0000401124" "00399881" "0" "00008" "00008" "2022-01-24 10:46:49" "" "" "PE;SSCA;SEQ" "DNA" "" ""
"0000401125" "00399882" "0" "00008" "00008" "2022-01-24 10:46:49" "" "" "PE;SSCA;SEQ" "DNA" "" ""
"0000401126" "00399883" "0" "00008" "00008" "2022-01-24 10:46:49" "" "" "PE;SSCA;SEQ" "DNA" "" ""
"0000401127" "00399884" "0" "00008" "00008" "2022-01-24 10:46:49" "" "" "PE;SSCA;SEQ" "DNA" "" ""
"0000401128" "00399885" "0" "00008" "00008" "2022-01-24 10:46:49" "" "" "PE;SSCA;SEQ" "DNA" "" ""
"0000401129" "00399886" "0" "00008" "00008" "2022-01-24 10:46:49" "" "" "PE;SSCA;SEQ" "DNA" "" ""
"0000401130" "00399887" "0" "00008" "00008" "2022-01-24 10:46:49" "" "" "PE;SSCA;SEQ" "DNA" "" ""
"0000401131" "00399888" "0" "00008" "00008" "2022-01-24 10:46:49" "" "" "PE;SSCA;SEQ" "DNA" "" ""
"0000401132" "00399889" "0" "00008" "00008" "2022-01-24 10:46:49" "" "" "PE;SSCA;SEQ" "DNA" "" ""
"0000401133" "00399890" "0" "00008" "00008" "2022-01-24 10:46:49" "" "" "PE;SSCA;SEQ" "DNA" "" ""
"0000401134" "00399891" "0" "00008" "00008" "2022-01-24 10:46:49" "" "" "PE;SSCA;SEQ" "DNA" "" ""
"0000401135" "00399892" "0" "00008" "00008" "2022-01-24 10:46:49" "" "" "PE;SSCA;SEQ" "DNA" "" ""
"0000401136" "00399893" "0" "00008" "00008" "2022-01-24 10:46:49" "" "" "PE;SSCA;SEQ" "DNA" "" ""
"0000401137" "00399894" "0" "00008" "00008" "2022-01-24 10:46:49" "" "" "PE;SSCA;SEQ" "DNA" "" ""
"0000401138" "00399895" "0" "00008" "00008" "2022-01-24 10:46:49" "" "" "PE;SSCA;SEQ" "DNA" "" ""
"0000401139" "00399896" "0" "00008" "00008" "2022-01-24 10:46:49" "" "" "PE;SSCA;SEQ" "DNA" "" ""
"0000401140" "00399897" "0" "00008" "00008" "2022-01-24 10:46:49" "" "" "PE;SSCA;SEQ" "DNA" "" ""
"0000401141" "00399898" "0" "00008" "00008" "2022-01-24 10:46:49" "" "" "PE;SSCA;SEQ" "DNA" "" ""
"0000401142" "00399899" "0" "00008" "00008" "2022-01-24 10:46:49" "" "" "PE;SSCA;SEQ" "DNA" "" ""
"0000401143" "00399900" "0" "00008" "00008" "2022-01-24 10:46:49" "" "" "PE;SSCA;SEQ" "DNA" "" ""
"0000401144" "00399901" "0" "00008" "00008" "2022-01-24 10:46:49" "" "" "PE;SSCA;SEQ" "DNA" "" ""
"0000401145" "00399902" "0" "00008" "00008" "2022-01-24 10:46:49" "" "" "?" "DNA" "" ""
"0000401146" "00399903" "0" "00008" "00008" "2022-01-24 10:46:49" "" "" "?" "DNA" "" ""
"0000401147" "00399904" "0" "00008" "00008" "2022-01-24 10:46:49" "" "" "?" "DNA" "" ""
"0000401148" "00399905" "0" "00008" "00008" "2022-01-24 10:46:49" "" "" "?" "DNA" "" ""
"0000401149" "00399906" "0" "00008" "00008" "2022-01-24 10:46:49" "" "" "?" "DNA" "" ""
"0000401150" "00399907" "0" "00008" "00008" "2022-01-24 10:46:49" "" "" "?" "DNA" "" ""
"0000401151" "00399908" "0" "00008" "00008" "2022-01-24 10:46:49" "" "" "?" "DNA" "" ""
"0000401152" "00399909" "0" "00008" "00008" "2022-01-24 10:46:49" "" "" "?" "DNA" "" ""
"0000401153" "00399910" "0" "00008" "00008" "2022-01-24 10:46:49" "" "" "?" "DNA" "" ""
"0000401154" "00399911" "0" "00008" "00008" "2022-01-24 10:46:49" "" "" "?" "DNA" "" ""
"0000401155" "00399912" "0" "00008" "00008" "2022-01-24 10:46:49" "" "" "?" "DNA" "" ""
"0000401156" "00399913" "0" "00008" "00008" "2022-01-24 10:46:49" "" "" "?" "DNA" "" ""
"0000401157" "00399914" "0" "00008" "00008" "2022-01-24 10:46:49" "" "" "?" "DNA" "" ""
"0000401158" "00399915" "0" "00008" "00008" "2022-01-24 10:46:49" "" "" "?" "DNA" "" ""
"0000401159" "00399916" "0" "00008" "00008" "2022-01-24 10:46:49" "" "" "?" "DNA" "" ""
"0000401160" "00399917" "0" "00008" "00008" "2022-01-24 10:46:49" "" "" "?" "DNA" "" ""
"0000401161" "00399918" "0" "00008" "00008" "2022-01-24 10:46:49" "" "" "?" "DNA" "" ""
"0000401162" "00399919" "0" "00008" "00008" "2022-01-24 10:46:49" "" "" "PE" "DNA" "" ""
"0000401163" "00399920" "0" "00008" "00008" "2022-01-24 10:46:49" "" "" "PE;SEQ" "DNA" "" ""
"0000401164" "00399921" "0" "00008" "00008" "2022-01-24 10:46:49" "" "" "PE;SEQ" "DNA" "" ""
"0000401165" "00399922" "0" "00008" "00008" "2022-01-24 10:46:49" "" "" "PE;SEQ" "DNA" "" ""
"0000401166" "00399923" "0" "00008" "00008" "2022-01-24 10:46:49" "" "" "PE;SEQ" "DNA" "" ""
"0000401167" "00399924" "0" "00008" "00008" "2022-01-24 10:46:49" "" "" "PE;SEQ" "DNA" "" ""
"0000401168" "00399925" "0" "00008" "00008" "2022-01-24 10:46:49" "" "" "PE;SEQ" "DNA" "" ""
"0000401169" "00399926" "0" "00008" "00008" "2022-01-24 10:46:49" "" "" "PE;SEQ" "DNA" "" ""
"0000401170" "00399927" "0" "00008" "00008" "2022-01-24 10:46:49" "" "" "PE;SEQ" "DNA" "" ""
"0000401171" "00399928" "0" "00008" "00008" "2022-01-24 10:46:49" "" "" "PE;SEQ" "DNA" "" ""
"0000401172" "00399929" "0" "00008" "00008" "2022-01-24 10:46:49" "" "" "PE;SEQ" "DNA" "" ""
"0000401173" "00399930" "0" "00008" "00008" "2022-01-24 10:46:49" "" "" "PE;SEQ" "DNA" "" ""
"0000401174" "00399931" "0" "00008" "00008" "2022-01-24 10:46:49" "" "" "PE;SEQ" "DNA" "" ""
"0000401175" "00399932" "0" "00008" "00008" "2022-01-24 10:46:49" "" "" "PE;SEQ" "DNA" "" ""
"0000401176" "00399933" "0" "00008" "00008" "2022-01-24 10:46:49" "" "" "PE;SEQ" "DNA" "" ""
"0000401177" "00399934" "0" "00008" "00008" "2022-01-24 10:46:49" "" "" "PE;SEQ" "DNA" "" ""
"0000401178" "00399935" "0" "00008" "00008" "2022-01-24 10:46:49" "" "" "PE;SEQ" "DNA" "" ""
"0000401179" "00399936" "0" "00008" "00008" "2022-01-24 10:46:49" "" "" "PE;SEQ" "DNA" "" ""
"0000401180" "00399937" "0" "00008" "00008" "2022-01-24 10:46:49" "" "" "PE;SEQ" "DNA" "" ""
"0000401181" "00399938" "0" "00008" "00008" "2022-01-24 10:46:49" "" "" "PE;SEQ" "DNA" "" ""
"0000401182" "00399939" "0" "00008" "00008" "2022-01-24 10:46:49" "" "" "PE;SEQ" "DNA" "" ""
"0000401183" "00399940" "0" "00008" "00008" "2022-01-24 10:46:49" "" "" "SEQ;MLPA;SEQ-NG" "DNA" "" ""
"0000401184" "00399941" "0" "00008" "00008" "2022-01-24 10:46:49" "" "" "SEQ;MLPA;SEQ-NG" "DNA" "" ""
"0000401185" "00399942" "0" "00008" "00008" "2022-01-24 10:46:49" "" "" "SEQ;MLPA;SEQ-NG" "DNA" "" ""
"0000401186" "00399943" "0" "00008" "00008" "2022-01-24 10:46:49" "" "" "SEQ;MLPA;SEQ-NG" "DNA" "" ""
"0000401187" "00399944" "0" "00008" "00008" "2022-01-24 10:46:49" "" "" "SEQ;MLPA;SEQ-NG" "DNA" "" ""
"0000401188" "00399945" "0" "00008" "00008" "2022-01-24 10:46:49" "" "" "SEQ;MLPA;SEQ-NG" "DNA" "" ""
"0000401189" "00399946" "0" "00008" "00008" "2022-01-24 10:46:49" "" "" "SEQ;MLPA;SEQ-NG" "DNA" "" ""
"0000401190" "00399947" "0" "00008" "00008" "2022-01-24 10:46:49" "" "" "SEQ;MLPA;SEQ-NG" "DNA" "" ""
"0000401191" "00399948" "0" "00008" "00008" "2022-01-24 10:46:49" "" "" "SEQ;MLPA;SEQ-NG" "DNA" "" ""
"0000401192" "00399949" "0" "00008" "00008" "2022-01-24 10:46:49" "" "" "SEQ;MLPA;SEQ-NG" "DNA" "" ""
"0000401193" "00399950" "0" "00008" "00008" "2022-01-24 10:46:49" "" "" "SEQ;MLPA;SEQ-NG" "DNA" "" ""
"0000401194" "00399951" "0" "00008" "00008" "2022-01-24 10:46:49" "" "" "SEQ;MLPA;SEQ-NG" "DNA" "" ""
"0000401195" "00399952" "0" "00008" "00008" "2022-01-24 10:46:49" "" "" "SEQ;MLPA;SEQ-NG" "DNA" "" ""
"0000401196" "00399953" "0" "00008" "00008" "2022-01-24 10:46:49" "" "" "SEQ;MLPA;SEQ-NG" "DNA" "" ""
"0000401197" "00399954" "0" "00008" "00008" "2022-01-24 10:46:49" "" "" "SEQ;MLPA;SEQ-NG" "DNA" "" ""
"0000401198" "00399955" "0" "00008" "00008" "2022-01-24 10:46:49" "" "" "SEQ;MLPA;SEQ-NG" "DNA" "" ""
"0000401199" "00399956" "0" "00008" "00008" "2022-01-24 10:46:49" "" "" "SEQ;MLPA;SEQ-NG" "DNA" "" ""
"0000401200" "00399957" "0" "00008" "00008" "2022-01-24 10:46:49" "" "" "SEQ;MLPA;SEQ-NG" "DNA" "" ""
"0000401201" "00399958" "0" "00008" "00008" "2022-01-24 10:46:49" "" "" "SEQ;MLPA;SEQ-NG" "DNA" "" ""
"0000401202" "00399959" "0" "00008" "00008" "2022-01-24 10:46:49" "" "" "SEQ;MLPA;SEQ-NG" "DNA" "" ""
"0000401203" "00399960" "0" "00008" "00008" "2022-01-24 10:46:49" "" "" "SEQ;MLPA;SEQ-NG" "DNA" "" ""
"0000401204" "00399961" "0" "00008" "00008" "2022-01-24 10:46:49" "" "" "SEQ;MLPA;SEQ-NG" "DNA" "" ""
"0000401205" "00399962" "0" "00008" "00008" "2022-01-24 10:46:49" "" "" "SEQ;MLPA;SEQ-NG" "DNA" "" ""
"0000401206" "00399963" "0" "00008" "00008" "2022-01-24 10:46:49" "" "" "SEQ;MLPA;SEQ-NG" "DNA" "" ""
"0000401207" "00399964" "0" "00008" "00008" "2022-01-24 10:46:49" "" "" "SEQ;MLPA;SEQ-NG" "DNA" "" ""
"0000401208" "00399965" "0" "00008" "00008" "2022-01-24 10:46:49" "" "" "SEQ;MLPA;SEQ-NG" "DNA" "" ""
"0000401209" "00399966" "0" "00008" "00008" "2022-01-24 10:46:49" "" "" "SEQ;MLPA;SEQ-NG" "DNA" "" ""
"0000401210" "00399967" "0" "00008" "00008" "2022-01-24 10:46:49" "" "" "SEQ;MLPA;SEQ-NG" "DNA" "" ""
"0000401211" "00399968" "0" "00008" "00008" "2022-01-24 10:46:49" "" "" "SEQ;MLPA;SEQ-NG" "DNA" "" ""
"0000401212" "00399969" "0" "00008" "00008" "2022-01-24 10:46:49" "" "" "SEQ;MLPA;SEQ-NG" "DNA" "" ""
"0000401213" "00399970" "0" "00008" "00008" "2022-01-24 10:46:49" "" "" "SEQ;MLPA;SEQ-NG" "DNA" "" ""
"0000401214" "00399971" "0" "00008" "00008" "2022-01-24 10:46:49" "" "" "SEQ;MLPA;SEQ-NG" "DNA" "" ""
"0000401215" "00399972" "0" "00008" "00008" "2022-01-24 10:46:49" "" "" "SEQ;MLPA;SEQ-NG" "DNA" "" ""
"0000401216" "00399973" "0" "00008" "00008" "2022-01-24 10:46:49" "" "" "SEQ;MLPA;SEQ-NG" "DNA" "" ""
"0000401217" "00399974" "0" "00008" "00008" "2022-01-24 10:46:49" "" "" "SEQ;MLPA;SEQ-NG" "DNA" "" ""
"0000401218" "00399975" "0" "00008" "00008" "2022-01-24 10:46:49" "" "" "SEQ;MLPA;SEQ-NG" "DNA" "" ""
"0000401219" "00399976" "0" "00008" "00008" "2022-01-24 10:46:49" "" "" "SEQ;MLPA;SEQ-NG" "DNA" "" ""
"0000401220" "00399977" "0" "00008" "00008" "2022-01-24 10:46:49" "" "" "SEQ;MLPA;SEQ-NG" "DNA" "" ""
"0000401221" "00399978" "0" "00008" "00008" "2022-01-24 10:46:49" "" "" "SSCA;SEQ" "DNA" "" ""
"0000401222" "00399979" "0" "00008" "00008" "2022-01-24 10:46:49" "" "" "SSCA;SEQ" "DNA" "" ""
"0000401223" "00399980" "0" "00008" "00008" "2022-01-24 10:46:49" "" "" "SSCA;SEQ" "DNA" "" ""
"0000401224" "00399981" "0" "00008" "00008" "2022-01-24 10:46:49" "" "" "SSCA;SEQ" "DNA" "" ""
"0000401225" "00399982" "0" "00008" "00008" "2022-01-24 10:46:49" "" "" "?" "DNA" "" ""
"0000401226" "00399983" "0" "00008" "00008" "2022-01-24 10:46:49" "" "" "?" "DNA" "" ""
"0000401227" "00399984" "0" "00008" "00008" "2022-01-24 10:46:49" "" "" "?" "DNA" "" ""
"0000401228" "00399985" "0" "00008" "00008" "2022-01-24 10:46:49" "" "" "?" "DNA" "" ""
"0000401229" "00399986" "0" "00008" "00008" "2022-01-24 10:46:49" "" "" "?" "DNA" "" ""
"0000401230" "00399987" "0" "00008" "00008" "2022-01-24 10:46:49" "" "" "?" "DNA" "" ""
"0000401231" "00399988" "0" "00008" "00008" "2022-01-24 10:46:49" "" "" "?" "DNA" "" ""
"0000401232" "00399989" "0" "00008" "00008" "2022-01-24 10:46:49" "" "" "?" "DNA" "" ""
"0000401233" "00399990" "0" "00008" "00008" "2022-01-24 10:46:49" "" "" "?" "DNA" "" ""
"0000401234" "00399991" "0" "00008" "00008" "2022-01-24 10:46:49" "" "" "?" "DNA" "" ""
"0000401235" "00399992" "0" "00008" "00008" "2022-01-24 10:46:49" "" "" "?" "DNA" "" ""
"0000401236" "00399993" "0" "00008" "00008" "2022-01-24 10:46:49" "" "" "?" "DNA" "" ""
"0000401237" "00399994" "0" "00008" "00008" "2022-01-24 10:46:49" "" "" "?" "DNA" "" ""
"0000401238" "00399995" "0" "00008" "00008" "2022-01-24 10:46:49" "" "" "?" "DNA" "" ""
"0000401239" "00399996" "0" "00008" "00008" "2022-01-24 10:46:49" "" "" "?" "DNA" "" ""
"0000401240" "00399997" "0" "00008" "00008" "2022-01-24 10:46:49" "" "" "?" "DNA" "" ""
"0000401241" "00399998" "0" "00008" "00008" "2022-01-24 10:46:49" "" "" "?" "DNA" "" ""
"0000401242" "00399999" "0" "00008" "00008" "2022-01-24 10:46:49" "" "" "?" "DNA" "" ""
"0000401243" "00400000" "0" "00008" "00008" "2022-01-24 10:46:49" "" "" "?" "DNA" "" ""
"0000401244" "00400001" "0" "00008" "00008" "2022-01-24 10:46:49" "" "" "?" "DNA" "" ""
"0000401245" "00400002" "0" "00008" "00008" "2022-01-24 10:46:49" "" "" "?" "DNA" "" ""
"0000401246" "00400003" "0" "00008" "00008" "2022-01-24 10:46:49" "" "" "SEQ" "DNA" "" ""
"0000401247" "00400004" "0" "00008" "00008" "2022-01-24 10:46:49" "" "" "SEQ" "DNA" "" ""
"0000401248" "00400005" "0" "00008" "00008" "2022-01-24 10:46:49" "" "" "SEQ" "DNA" "" ""
"0000401249" "00400006" "0" "00008" "00008" "2022-01-24 10:46:49" "" "" "SEQ" "DNA" "" ""
"0000401250" "00400007" "0" "00008" "00008" "2022-01-24 10:46:49" "" "" "SEQ" "DNA" "" ""
"0000401251" "00400008" "0" "00008" "00008" "2022-01-24 10:46:49" "" "" "SEQ" "DNA" "" ""
"0000401252" "00400009" "0" "00008" "00008" "2022-01-24 10:46:49" "" "" "SEQ" "DNA" "" ""
"0000401253" "00400010" "0" "00008" "00008" "2022-01-24 10:46:49" "" "" "SEQ" "DNA" "" ""
"0000401254" "00400011" "0" "00008" "00008" "2022-01-24 10:46:49" "" "" "SEQ" "DNA" "" ""
"0000401255" "00400012" "0" "00008" "00008" "2022-01-24 10:46:49" "" "" "SEQ" "DNA" "" ""
"0000401256" "00400013" "0" "00008" "00008" "2022-01-24 10:46:49" "" "" "SEQ" "DNA" "" ""
"0000401257" "00400014" "0" "00008" "00008" "2022-01-24 10:46:49" "" "" "SEQ" "DNA" "" ""
"0000401258" "00400015" "0" "00008" "00008" "2022-01-24 10:46:49" "" "" "SEQ" "DNA" "" ""
"0000401259" "00400016" "0" "00008" "00008" "2022-01-24 10:46:49" "" "" "SEQ" "DNA" "" ""
"0000401260" "00400017" "0" "00008" "00008" "2022-01-24 10:46:49" "" "" "SEQ" "DNA" "" ""
"0000401261" "00400018" "0" "00008" "00008" "2022-01-24 10:46:49" "" "" "SEQ" "DNA" "" ""
"0000401262" "00400019" "0" "00008" "00008" "2022-01-24 10:46:49" "" "" "SEQ" "DNA" "" ""
"0000401263" "00400020" "0" "00008" "00008" "2022-01-24 10:46:49" "" "" "SEQ" "DNA" "" ""
"0000401264" "00400021" "0" "00008" "00008" "2022-01-24 10:46:49" "" "" "SEQ" "DNA" "" ""
"0000401265" "00400022" "0" "00008" "00008" "2022-01-24 10:46:49" "" "" "SEQ" "DNA" "" ""
"0000401266" "00400023" "0" "00008" "00008" "2022-01-24 10:46:49" "" "" "SEQ" "DNA" "" ""
"0000401267" "00400024" "0" "00008" "00008" "2022-01-24 10:46:49" "" "" "SEQ" "DNA" "" ""
"0000401268" "00400025" "0" "00008" "00008" "2022-01-24 10:46:49" "" "" "SEQ" "DNA" "" ""
"0000401269" "00400026" "0" "00008" "00008" "2022-01-24 10:46:49" "" "" "SEQ" "DNA" "" ""
"0000401270" "00400027" "0" "00008" "00008" "2022-01-24 10:46:49" "" "" "SEQ" "DNA" "" ""
"0000401271" "00400028" "0" "00008" "00008" "2022-01-24 10:46:49" "" "" "SEQ" "DNA" "" ""
"0000401272" "00400029" "0" "00008" "00008" "2022-01-24 10:46:49" "" "" "SEQ" "DNA" "" ""
"0000401273" "00400030" "0" "00008" "00008" "2022-01-24 10:46:49" "" "" "SEQ" "DNA" "" ""
"0000401274" "00400031" "0" "00008" "00008" "2022-01-24 10:46:49" "" "" "SEQ" "DNA" "" ""
"0000401275" "00400032" "0" "00008" "00008" "2022-01-24 10:46:49" "" "" "SEQ" "DNA" "" ""
"0000401276" "00400033" "0" "00008" "00008" "2022-01-24 10:46:49" "" "" "SEQ" "DNA" "" ""
"0000401277" "00400034" "0" "00008" "00008" "2022-01-24 10:46:49" "" "" "SEQ" "DNA" "" ""
"0000401278" "00400035" "0" "00008" "00008" "2022-01-24 10:46:49" "" "" "SEQ" "DNA" "" ""
"0000401279" "00400036" "0" "00008" "00008" "2022-01-24 10:46:49" "" "" "SEQ" "DNA" "" ""
"0000401280" "00400037" "0" "00008" "00008" "2022-01-24 10:46:49" "" "" "SEQ" "DNA" "" ""
"0000401281" "00400038" "0" "00008" "00008" "2022-01-24 10:46:49" "" "" "SEQ" "DNA" "" ""
"0000401282" "00400039" "0" "00008" "00008" "2022-01-24 10:46:49" "" "" "SEQ" "DNA" "" ""
"0000401283" "00400040" "0" "00008" "00008" "2022-01-24 10:46:49" "" "" "SEQ" "DNA" "" ""
"0000401284" "00400041" "0" "00008" "00008" "2022-01-24 10:46:49" "" "" "SEQ" "DNA" "" ""
"0000401285" "00400042" "0" "00008" "00008" "2022-01-24 10:46:49" "" "" "SEQ" "DNA" "" ""
"0000401286" "00400043" "0" "00008" "00008" "2022-01-24 10:46:49" "" "" "SEQ" "DNA" "" ""
"0000401287" "00400044" "0" "00008" "00008" "2022-01-24 10:46:49" "" "" "SEQ" "DNA" "" ""
"0000401288" "00400045" "0" "00008" "00008" "2022-01-24 10:46:49" "" "" "SEQ" "DNA" "" ""
"0000401289" "00400046" "0" "00008" "00008" "2022-01-24 10:46:49" "" "" "SEQ" "DNA" "" ""
"0000401290" "00400047" "0" "00008" "00008" "2022-01-24 10:46:49" "" "" "SEQ" "DNA" "" ""
"0000401291" "00400048" "0" "00008" "00008" "2022-01-24 10:46:49" "" "" "SEQ" "DNA" "" ""
"0000401292" "00400049" "0" "00008" "00008" "2022-01-24 10:46:49" "" "" "SEQ" "DNA" "" ""
"0000401293" "00400050" "0" "00008" "00008" "2022-01-24 10:46:49" "" "" "SEQ" "DNA" "" ""
"0000401294" "00400051" "0" "00008" "00008" "2022-01-24 10:46:49" "" "" "SEQ" "DNA" "" ""
"0000401295" "00400052" "0" "00008" "00008" "2022-01-24 10:46:49" "" "" "SEQ" "DNA" "" ""
"0000401296" "00400053" "0" "00008" "00008" "2022-01-24 10:46:49" "" "" "SEQ" "DNA" "" ""
"0000407244" "00406003" "1" "00000" "00008" "2022-03-25 07:05:25" "" "" "SEQ-NG" "DNA" "blood" "comprehensive retinal dystrophy panel"
"0000407245" "00406004" "1" "00000" "00008" "2022-03-25 07:05:25" "" "" "SEQ-NG" "DNA" "blood" "comprehensive retinal dystrophy panel"
"0000409342" "00408087" "1" "00000" "03840" "2022-04-13 19:19:00" "" "" "arraySNP;SEQ" "DNA" "" ""
"0000409694" "00408437" "1" "00000" "03840" "2022-04-21 15:58:46" "" "" "SEQ-NG;SEQ" "DNA" "" "targeted gene analysis or a next-generation sequencing-based gene panel"
"0000409927" "00408664" "1" "04300" "04300" "2022-04-25 18:39:47" "" "" "SEQ-NG" "DNA" "" ""
"0000409928" "00408665" "1" "04300" "04300" "2022-04-25 19:10:53" "" "" "SEQ-NG" "DNA" "" ""
"0000409929" "00408666" "1" "04300" "04300" "2022-04-25 19:20:47" "" "" "SEQ-NG" "DNA" "" ""
"0000409930" "00408667" "1" "04300" "04300" "2022-04-25 19:31:32" "" "" "SEQ-NG" "DNA" "" ""
"0000409931" "00408668" "1" "04300" "04300" "2022-04-25 19:36:51" "" "" "SEQ-NG" "DNA" "" ""
"0000409961" "00408669" "1" "04300" "04300" "2022-04-25 19:57:28" "" "" "SEQ-NG" "DNA" "" ""
"0000409962" "00408699" "1" "04300" "04300" "2022-04-25 20:04:56" "" "" "SEQ-NG" "DNA" "" ""
"0000409970" "00408707" "1" "04300" "04300" "2022-04-25 21:25:45" "" "" "SEQ-NG" "DNA" "" ""
"0000409971" "00408708" "1" "04300" "04300" "2022-04-25 21:31:32" "" "" "SEQ-NG" "DNA" "" ""
"0000409973" "00408709" "1" "04300" "04300" "2022-04-25 21:35:37" "" "" "SEQ-NG" "DNA" "" ""
"0000409974" "00408710" "1" "04300" "04300" "2022-04-25 21:42:38" "" "" "SEQ-NG" "DNA" "" ""
"0000409978" "00408714" "1" "04300" "04300" "2022-04-25 22:21:33" "" "" "SEQ-NG" "DNA" "" ""
"0000409979" "00408715" "1" "04300" "04300" "2022-04-25 22:42:45" "" "" "SEQ-NG" "DNA" "" ""
"0000409980" "00408716" "1" "04300" "04300" "2022-04-25 22:52:27" "" "" "SEQ-NG" "DNA" "" ""
"0000409981" "00408717" "1" "04300" "04300" "2022-04-25 23:11:38" "" "" "SEQ-NG" "DNA" "" ""
"0000410049" "00408783" "1" "04300" "04300" "2022-04-28 05:21:55" "" "" "SEQ-NG" "DNA" "" ""
"0000410050" "00408784" "1" "04300" "04300" "2022-04-28 05:26:14" "" "" "SEQ-NG" "DNA" "" ""
"0000410051" "00408785" "1" "04300" "04300" "2022-04-28 05:30:31" "" "" "SEQ-NG" "DNA" "" ""
"0000410052" "00408787" "1" "04300" "04300" "2022-04-28 05:38:14" "" "" "SEQ-NG" "DNA" "" ""
"0000410053" "00408788" "1" "04300" "04300" "2022-04-28 05:41:11" "" "" "SEQ-NG" "DNA" "" ""
"0000410054" "00408789" "1" "04300" "04300" "2022-04-28 05:44:04" "" "" "SEQ-NG" "DNA" "" ""
"0000410055" "00408790" "1" "04300" "04300" "2022-04-28 05:48:33" "" "" "SEQ-NG" "DNA" "" ""
"0000410056" "00408791" "1" "04300" "04300" "2022-04-28 05:52:17" "" "" "SEQ-NG" "DNA" "" ""
"0000411675" "00410411" "1" "00000" "03840" "2022-05-25 23:09:43" "" "" "?" "DNA" "" "retrospective study"
"0000412284" "00411020" "1" "00000" "00008" "2022-05-31 18:45:49" "" "" "?" "DNA" "" ""
"0000412597" "00411327" "1" "04333" "04333" "2022-06-12 08:30:13" "" "" "SEQ" "DNA" "" ""
"0000412598" "00411328" "1" "04333" "04333" "2022-06-12 08:49:38" "" "" "SEQ" "DNA" "" ""
"0000412599" "00411329" "1" "04333" "04333" "2022-06-12 08:57:48" "" "" "SEQ-NG" "DNA" "" "WES"
"0000412600" "00411330" "1" "04333" "04333" "2022-06-12 09:06:45" "" "" "SEQ" "DNA" "" ""
"0000412601" "00411331" "1" "04333" "04333" "2022-06-12 09:12:40" "" "" "SEQ" "DNA" "" ""
"0000412602" "00411332" "1" "04333" "04333" "2022-06-12 09:19:37" "" "" "SEQ-NG" "DNA" "" "MIPs"
"0000412603" "00411333" "1" "04333" "04333" "2022-06-12 09:53:47" "" "" "SEQ-NG" "DNA" "" "MIPs"
"0000412604" "00411334" "1" "04333" "04333" "2022-06-12 09:58:40" "" "" "SEQ" "DNA" "" ""
"0000412605" "00411335" "1" "04333" "04333" "2022-06-12 10:05:04" "" "" "SEQ" "DNA" "" ""
"0000412606" "00411336" "1" "04333" "04333" "2022-06-12 10:09:30" "" "" "SEQ" "DNA" "" ""
"0000412607" "00411337" "1" "04333" "04333" "2022-06-12 10:15:11" "" "" "SEQ" "DNA" "" ""
"0000412624" "00411354" "1" "04333" "04333" "2022-06-12 11:35:43" "" "" "SEQ" "DNA" "" ""
"0000412625" "00411355" "1" "04333" "04333" "2022-06-12 11:38:37" "" "" "SEQ" "DNA" "" ""
"0000412627" "00411358" "1" "04333" "04333" "2022-06-12 11:51:15" "" "" "SEQ" "DNA" "" ""
"0000415716" "00414436" "1" "00000" "03840" "2022-07-28 13:16:36" "" "" "SEQ-NG-I" "DNA" "blood" ""
"0000420867" "00419563" "1" "02300" "00006" "2022-10-20 16:24:48" "" "" "SEQ;SEQ-NG" "DNA" "" "clinical exome sequencing"
"0000420990" "00419685" "1" "04405" "00006" "2022-10-21 12:50:15" "" "" "MIPsm" "DNA" "" "smMIPs 105 iMD/AMD genes"
"0000420991" "00419686" "1" "04405" "00006" "2022-10-21 12:50:15" "" "" "MIPsm" "DNA" "" "smMIPs 105 iMD/AMD genes"
"0000420992" "00419687" "1" "04405" "00006" "2022-10-21 12:50:15" "" "" "MIPsm" "DNA" "" "smMIPs 105 iMD/AMD genes"
"0000420993" "00419688" "1" "04405" "00006" "2022-10-21 12:50:15" "" "" "MIPsm" "DNA" "" "smMIPs 105 iMD/AMD genes"
"0000420994" "00419689" "1" "04405" "00006" "2022-10-21 12:50:15" "" "" "MIPsm" "DNA" "" "smMIPs 105 iMD/AMD genes"
"0000421701" "00420392" "1" "00000" "03840" "2022-11-02 10:32:06" "" "" "SEQ-NG" "DNA" "" "targeted 212 IRD-related genes"
"0000421702" "00420393" "1" "00000" "03840" "2022-11-02 10:32:06" "" "" "SEQ-NG" "DNA" "" "targeted 212 IRD-related genes"
"0000421719" "00420410" "1" "00000" "03840" "2022-11-02 10:32:06" "" "" "SEQ-NG" "DNA" "" "targeted 212 IRD-related genes"
"0000421731" "00420422" "1" "00000" "03840" "2022-11-02 10:32:06" "" "" "SEQ-NG" "DNA" "" "targeted 212 IRD-related genes"
"0000421732" "00420423" "1" "00000" "03840" "2022-11-02 10:32:06" "" "" "SEQ-NG" "DNA" "" "targeted 212 IRD-related genes"
"0000421738" "00420429" "1" "00000" "03840" "2022-11-02 10:32:06" "" "" "SEQ-NG" "DNA" "" "targeted 212 IRD-related genes"
"0000421739" "00420430" "1" "00000" "03840" "2022-11-02 10:32:06" "" "" "SEQ-NG" "DNA" "" "targeted 212 IRD-related genes"
"0000421743" "00420434" "1" "00000" "03840" "2022-11-02 10:32:06" "" "" "SEQ-NG" "DNA" "" "targeted 212 IRD-related genes"
"0000421758" "00420449" "1" "00000" "03840" "2022-11-02 10:32:06" "" "" "SEQ-NG" "DNA" "" "targeted 212 IRD-related genes"
"0000421761" "00420452" "1" "00000" "03840" "2022-11-02 10:32:06" "" "" "SEQ-NG" "DNA" "" "targeted 212 IRD-related genes"
"0000421765" "00420456" "1" "00000" "03840" "2022-11-02 10:32:06" "" "" "SEQ-NG" "DNA" "" "targeted 212 IRD-related genes"
"0000421769" "00420460" "1" "00000" "03840" "2022-11-02 10:32:06" "" "" "SEQ-NG" "DNA" "" "targeted 212 IRD-related genes"
"0000421770" "00420461" "1" "00000" "03840" "2022-11-02 10:32:06" "" "" "SEQ-NG" "DNA" "" "targeted 212 IRD-related genes"
"0000421771" "00420462" "1" "00000" "03840" "2022-11-02 10:32:06" "" "" "SEQ-NG" "DNA" "" "targeted 212 IRD-related genes"
"0000421775" "00420466" "1" "00000" "03840" "2022-11-02 10:32:06" "" "" "SEQ-NG" "DNA" "" "targeted 212 IRD-related genes"
"0000421781" "00420472" "1" "00000" "03840" "2022-11-02 10:32:06" "" "" "SEQ-NG" "DNA" "" "targeted 212 IRD-related genes"
"0000421790" "00420481" "1" "00000" "03840" "2022-11-02 10:32:06" "" "" "SEQ-NG" "DNA" "" "targeted 212 IRD-related genes"
"0000421803" "00420494" "1" "00000" "03840" "2022-11-02 10:32:06" "" "" "SEQ-NG" "DNA" "" "targeted 212 IRD-related genes"
"0000421810" "00420501" "1" "00000" "03840" "2022-11-02 10:32:06" "" "" "SEQ-NG" "DNA" "" "targeted 212 IRD-related genes"
"0000421818" "00420509" "1" "00000" "03840" "2022-11-02 10:32:06" "" "" "SEQ-NG" "DNA" "" "targeted 212 IRD-related genes"
"0000421826" "00420517" "1" "00000" "03840" "2022-11-02 10:32:06" "" "" "SEQ-NG" "DNA" "" "targeted 212 IRD-related genes"
"0000421833" "00420524" "1" "00000" "03840" "2022-11-02 10:32:06" "" "" "SEQ-NG" "DNA" "" "targeted 212 IRD-related genes"
"0000421836" "00420527" "1" "00000" "03840" "2022-11-02 10:32:06" "" "" "SEQ-NG" "DNA" "" "targeted 212 IRD-related genes"
"0000421842" "00420533" "1" "00000" "03840" "2022-11-02 10:32:06" "" "" "SEQ-NG" "DNA" "" "targeted 212 IRD-related genes"
"0000421853" "00420544" "1" "00000" "03840" "2022-11-02 10:32:06" "" "" "SEQ-NG" "DNA" "" "targeted 212 IRD-related genes"
"0000421868" "00420559" "1" "00000" "03840" "2022-11-02 10:32:06" "" "" "SEQ-NG" "DNA" "" "targeted 212 IRD-related genes"
"0000421869" "00420560" "1" "00000" "03840" "2022-11-02 10:32:06" "" "" "SEQ-NG" "DNA" "" "targeted 212 IRD-related genes"
"0000421874" "00420565" "1" "00000" "03840" "2022-11-02 10:32:06" "" "" "SEQ-NG" "DNA" "" "targeted 212 IRD-related genes"
"0000421878" "00420569" "1" "00000" "03840" "2022-11-02 10:32:06" "" "" "SEQ-NG" "DNA" "" "targeted 212 IRD-related genes"
"0000423696" "00422385" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423697" "00422386" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423698" "00422387" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423699" "00422388" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423700" "00422389" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423701" "00422390" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423702" "00422391" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423703" "00422392" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423704" "00422393" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423705" "00422394" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423706" "00422395" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423708" "00422397" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423709" "00422398" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423710" "00422399" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423711" "00422400" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423712" "00422401" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423713" "00422402" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423714" "00422403" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423715" "00422404" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423716" "00422405" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423717" "00422406" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423718" "00422407" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423719" "00422408" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423720" "00422409" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423722" "00422411" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423723" "00422412" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423725" "00422414" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423726" "00422415" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423727" "00422416" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423728" "00422417" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423729" "00422418" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423730" "00422419" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423731" "00422420" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423734" "00422423" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423736" "00422425" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423737" "00422426" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423738" "00422427" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423739" "00422428" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423741" "00422430" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423742" "00422431" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423743" "00422432" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423744" "00422433" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423745" "00422434" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423746" "00422435" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423747" "00422436" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423748" "00422437" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423749" "00422438" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423750" "00422439" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423751" "00422440" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423752" "00422441" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423753" "00422442" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423754" "00422443" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423755" "00422444" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423756" "00422445" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423757" "00422446" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423758" "00422447" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423759" "00422448" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423760" "00422449" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423761" "00422450" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423762" "00422451" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423763" "00422452" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423765" "00422454" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423766" "00422455" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423767" "00422456" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423768" "00422457" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423769" "00422458" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423770" "00422459" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423771" "00422460" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423772" "00422461" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423773" "00422462" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423774" "00422463" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423775" "00422464" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423776" "00422465" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423777" "00422466" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423778" "00422467" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423779" "00422468" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423781" "00422470" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423782" "00422471" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423783" "00422472" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423784" "00422473" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423785" "00422474" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423786" "00422475" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423787" "00422476" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423788" "00422477" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423790" "00422479" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423791" "00422480" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423792" "00422481" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423793" "00422482" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423794" "00422483" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423795" "00422484" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423796" "00422485" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423797" "00422486" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423798" "00422487" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423799" "00422488" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423800" "00422489" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423801" "00422490" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423802" "00422491" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423803" "00422492" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423804" "00422493" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423805" "00422494" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423806" "00422495" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423807" "00422496" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423809" "00422498" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423810" "00422499" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423811" "00422500" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423812" "00422501" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423813" "00422502" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423814" "00422503" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423815" "00422504" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423816" "00422505" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423817" "00422506" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423818" "00422507" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423819" "00422508" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423820" "00422509" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423821" "00422510" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423823" "00422512" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423824" "00422513" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423825" "00422514" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423826" "00422515" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423827" "00422516" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423828" "00422517" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423829" "00422518" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423830" "00422519" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423831" "00422520" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423832" "00422521" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423833" "00422522" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423834" "00422523" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423835" "00422524" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423836" "00422525" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423837" "00422526" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423838" "00422527" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423839" "00422528" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423840" "00422529" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423841" "00422530" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423842" "00422531" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423843" "00422532" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423844" "00422533" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423846" "00422535" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423848" "00422537" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423849" "00422538" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423850" "00422539" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423851" "00422540" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423852" "00422541" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423854" "00422543" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423855" "00422544" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423856" "00422545" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423857" "00422546" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423859" "00422548" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423860" "00422549" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423862" "00422551" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423864" "00422553" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423865" "00422554" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423866" "00422555" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423867" "00422556" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423868" "00422557" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423869" "00422558" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423870" "00422559" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423872" "00422561" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423873" "00422562" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423875" "00422564" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423876" "00422565" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423877" "00422566" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423878" "00422567" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423879" "00422568" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423880" "00422569" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423881" "00422570" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423882" "00422571" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423883" "00422572" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423884" "00422573" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423885" "00422574" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423886" "00422575" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423888" "00422577" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423889" "00422578" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423890" "00422579" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423891" "00422580" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423893" "00422582" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423895" "00422584" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423896" "00422585" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423897" "00422586" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423898" "00422587" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423899" "00422588" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423900" "00422589" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423902" "00422591" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423904" "00422593" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423905" "00422594" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423906" "00422595" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423907" "00422596" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423908" "00422597" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423910" "00422599" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423911" "00422600" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423912" "00422601" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423913" "00422602" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423914" "00422603" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423915" "00422604" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423916" "00422605" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423917" "00422606" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423918" "00422607" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423919" "00422608" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423922" "00422611" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423923" "00422612" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423925" "00422614" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423926" "00422615" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423927" "00422616" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423928" "00422617" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423929" "00422618" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423930" "00422619" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423931" "00422620" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423932" "00422621" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423933" "00422622" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423934" "00422623" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423935" "00422624" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423936" "00422625" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423937" "00422626" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423938" "00422627" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423939" "00422628" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423940" "00422629" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423941" "00422630" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423942" "00422631" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423943" "00422632" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423944" "00422633" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423945" "00422634" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423946" "00422635" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423947" "00422636" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423948" "00422637" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423949" "00422638" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423950" "00422639" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423951" "00422640" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423952" "00422641" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423953" "00422642" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423954" "00422643" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423955" "00422644" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423956" "00422645" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423957" "00422646" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423958" "00422647" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423959" "00422648" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423960" "00422649" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423961" "00422650" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423962" "00422651" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423963" "00422652" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423964" "00422653" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423965" "00422654" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423966" "00422655" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423967" "00422656" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423968" "00422657" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423969" "00422658" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423970" "00422659" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423971" "00422660" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423972" "00422661" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423973" "00422662" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423974" "00422663" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423975" "00422664" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423976" "00422665" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423977" "00422666" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423978" "00422667" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423979" "00422668" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423980" "00422669" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423981" "00422670" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423983" "00422672" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423984" "00422673" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000423985" "00422674" "1" "04206" "00006" "2022-11-10 17:26:36" "" "" "SEQ" "DNA" "" ""
"0000424645" "00423335" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "MIPS of 108 genes"
"0000424646" "00423336" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "SEQ-NG" "DNA" "" ""
"0000424647" "00423337" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" ""
"0000424648" "00423338" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" ""
"0000424649" "00423339" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" ""
"0000424650" "00423340" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" ""
"0000424651" "00423341" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" ""
"0000424652" "00423342" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" ""
"0000424653" "00423343" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" ""
"0000424654" "00423344" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" ""
"0000424655" "00423345" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" ""
"0000424656" "00423346" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" ""
"0000424657" "00423347" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" ""
"0000424658" "00423348" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" ""
"0000424659" "00423349" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" ""
"0000424660" "00423350" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" ""
"0000424661" "00423351" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" ""
"0000424662" "00423352" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" ""
"0000424663" "00423353" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" ""
"0000424664" "00423354" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" ""
"0000424665" "00423355" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" ""
"0000424666" "00423356" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" ""
"0000424667" "00423357" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" ""
"0000424668" "00423358" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" ""
"0000424669" "00423359" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" ""
"0000424670" "00423360" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" ""
"0000424671" "00423361" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" ""
"0000424672" "00423362" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" ""
"0000424673" "00423363" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" ""
"0000424674" "00423364" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" ""
"0000424675" "00423365" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" ""
"0000424676" "00423366" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" ""
"0000424677" "00423367" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" ""
"0000424678" "00423368" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" ""
"0000424679" "00423369" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" ""
"0000424680" "00423370" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" ""
"0000424681" "00423371" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" ""
"0000424682" "00423372" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" ""
"0000424683" "00423373" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" ""
"0000424684" "00423374" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" ""
"0000424685" "00423375" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" ""
"0000424686" "00423376" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" ""
"0000424687" "00423377" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" ""
"0000424688" "00423378" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" ""
"0000424689" "00423379" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" ""
"0000424690" "00423380" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" ""
"0000424691" "00423381" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" ""
"0000424692" "00423382" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" ""
"0000424693" "00423383" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" ""
"0000424694" "00423384" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" ""
"0000424695" "00423385" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" ""
"0000424696" "00423386" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" ""
"0000424697" "00423387" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" ""
"0000424698" "00423388" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" ""
"0000424699" "00423389" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424700" "00423390" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424701" "00423391" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424702" "00423392" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424703" "00423393" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424704" "00423394" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424705" "00423395" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424706" "00423396" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424707" "00423397" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424708" "00423398" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424709" "00423399" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424710" "00423400" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424711" "00423401" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424712" "00423402" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424713" "00423403" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424714" "00423404" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424715" "00423405" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424716" "00423406" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424717" "00423407" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424718" "00423408" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424719" "00423409" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424720" "00423410" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424721" "00423411" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424722" "00423412" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424723" "00423413" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424724" "00423414" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424725" "00423415" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424726" "00423416" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424727" "00423417" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424728" "00423418" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424729" "00423419" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424730" "00423420" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424731" "00423421" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424732" "00423422" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424733" "00423423" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424734" "00423424" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424735" "00423425" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424736" "00423426" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424737" "00423427" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424738" "00423428" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424739" "00423429" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424740" "00423430" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424741" "00423431" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424742" "00423432" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424743" "00423433" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424744" "00423434" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424745" "00423435" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424746" "00423436" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424747" "00423437" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424748" "00423438" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424749" "00423439" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424750" "00423440" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424751" "00423441" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424752" "00423442" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424753" "00423443" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424754" "00423444" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424755" "00423445" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424756" "00423446" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424757" "00423447" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424758" "00423448" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424759" "00423449" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424760" "00423450" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424761" "00423451" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424762" "00423452" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424763" "00423453" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424764" "00423454" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424765" "00423455" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424766" "00423456" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424767" "00423457" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424768" "00423458" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424769" "00423459" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424770" "00423460" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424771" "00423461" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424772" "00423462" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424773" "00423463" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424774" "00423464" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424775" "00423465" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424776" "00423466" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424777" "00423467" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424778" "00423468" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424779" "00423469" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424780" "00423470" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424781" "00423471" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424782" "00423472" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424783" "00423473" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424784" "00423474" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424785" "00423475" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424786" "00423476" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424787" "00423477" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424788" "00423478" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424789" "00423479" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424790" "00423480" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424791" "00423481" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424792" "00423482" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424793" "00423483" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424794" "00423484" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424795" "00423485" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424796" "00423486" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424797" "00423487" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424798" "00423488" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424799" "00423489" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424800" "00423490" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424801" "00423491" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424802" "00423492" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424803" "00423493" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424804" "00423494" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424805" "00423495" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424806" "00423496" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424807" "00423497" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424808" "00423498" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424809" "00423499" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424810" "00423500" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424811" "00423501" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424812" "00423502" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424813" "00423503" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424814" "00423504" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424815" "00423505" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424816" "00423506" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424817" "00423507" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424818" "00423508" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424819" "00423509" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424820" "00423510" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424821" "00423511" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424822" "00423512" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424823" "00423513" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424824" "00423514" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424825" "00423515" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424826" "00423516" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424827" "00423517" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424828" "00423518" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424829" "00423519" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424830" "00423520" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424831" "00423521" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424832" "00423522" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424833" "00423523" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424834" "00423524" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424835" "00423525" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424836" "00423526" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424837" "00423527" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424838" "00423528" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424839" "00423529" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424840" "00423530" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424841" "00423531" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424842" "00423532" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424843" "00423533" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424844" "00423534" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424845" "00423535" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424846" "00423536" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424847" "00423537" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424848" "00423538" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424849" "00423539" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424850" "00423540" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424851" "00423541" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424852" "00423542" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424853" "00423543" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424854" "00423544" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424855" "00423545" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424856" "00423546" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424857" "00423547" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424858" "00423548" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424859" "00423549" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424860" "00423550" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424861" "00423551" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424862" "00423552" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424863" "00423553" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424864" "00423554" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424865" "00423555" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424866" "00423556" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424867" "00423557" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424868" "00423558" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424869" "00423559" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424870" "00423560" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424871" "00423561" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424872" "00423562" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424873" "00423563" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424874" "00423564" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424875" "00423565" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424876" "00423566" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424877" "00423567" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424878" "00423568" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424879" "00423569" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424880" "00423570" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424881" "00423571" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424882" "00423572" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424883" "00423573" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424884" "00423574" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424885" "00423575" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424886" "00423576" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424887" "00423577" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424888" "00423578" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424889" "00423579" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424890" "00423580" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424891" "00423581" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424892" "00423582" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424893" "00423583" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424894" "00423584" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424895" "00423585" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424896" "00423586" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424897" "00423587" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424898" "00423588" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424899" "00423589" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424900" "00423590" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424901" "00423591" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424902" "00423592" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424903" "00423593" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424904" "00423594" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424905" "00423595" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424906" "00423596" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424907" "00423597" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424908" "00423598" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424909" "00423599" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424910" "00423600" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424911" "00423601" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424912" "00423602" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424913" "00423603" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424914" "00423604" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424915" "00423605" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424916" "00423606" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424917" "00423607" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424918" "00423608" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424919" "00423609" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424920" "00423610" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424921" "00423611" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424922" "00423612" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424923" "00423613" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424924" "00423614" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424925" "00423615" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424926" "00423616" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424927" "00423617" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424928" "00423618" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424929" "00423619" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424930" "00423620" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424931" "00423621" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424932" "00423622" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424933" "00423623" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424934" "00423624" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424935" "00423625" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424936" "00423626" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424937" "00423627" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424938" "00423628" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424939" "00423629" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424940" "00423630" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424941" "00423631" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424942" "00423632" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424943" "00423633" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424944" "00423634" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424945" "00423635" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424946" "00423636" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424947" "00423637" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424948" "00423638" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424949" "00423639" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424950" "00423640" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424951" "00423641" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424952" "00423642" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424953" "00423643" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424954" "00423644" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424955" "00423645" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424956" "00423646" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424957" "00423647" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424958" "00423648" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424959" "00423649" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424960" "00423650" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424961" "00423651" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424962" "00423652" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424963" "00423653" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424964" "00423654" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424965" "00423655" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424966" "00423656" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424967" "00423657" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424968" "00423658" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424969" "00423659" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424970" "00423660" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424971" "00423661" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424972" "00423662" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424973" "00423663" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424974" "00423664" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424975" "00423665" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424976" "00423666" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424977" "00423667" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424978" "00423668" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424979" "00423669" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424980" "00423670" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424981" "00423671" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424982" "00423672" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424983" "00423673" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424984" "00423674" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424985" "00423675" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424986" "00423676" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424987" "00423677" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424988" "00423678" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424989" "00423679" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424990" "00423680" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424991" "00423681" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424992" "00423682" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424993" "00423683" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424994" "00423684" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424995" "00423685" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424996" "00423686" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424997" "00423687" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424998" "00423688" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000424999" "00423689" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425000" "00423690" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425001" "00423691" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425002" "00423692" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425003" "00423693" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425004" "00423694" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425005" "00423695" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425006" "00423696" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425007" "00423697" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425008" "00423698" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425009" "00423699" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425010" "00423700" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425011" "00423701" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425012" "00423702" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425013" "00423703" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425014" "00423704" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425015" "00423705" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425016" "00423706" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425017" "00423707" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425018" "00423708" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425019" "00423709" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425020" "00423710" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425021" "00423711" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425022" "00423712" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425023" "00423713" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425024" "00423714" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425025" "00423715" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425026" "00423716" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425027" "00423717" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425028" "00423718" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425029" "00423719" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425030" "00423720" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425031" "00423721" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425032" "00423722" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425033" "00423723" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425034" "00423724" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425035" "00423725" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425036" "00423726" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425037" "00423727" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425038" "00423728" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425039" "00423729" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425040" "00423730" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425041" "00423731" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425042" "00423732" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425043" "00423733" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425044" "00423734" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425045" "00423735" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425046" "00423736" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425047" "00423737" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425048" "00423738" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425049" "00423739" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425050" "00423740" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425051" "00423741" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425052" "00423742" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425053" "00423743" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425054" "00423744" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425055" "00423745" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425056" "00423746" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425057" "00423747" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425058" "00423748" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425059" "00423749" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425060" "00423750" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425061" "00423751" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425062" "00423752" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425063" "00423753" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425064" "00423754" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425065" "00423755" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425066" "00423756" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425067" "00423757" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425068" "00423758" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425069" "00423759" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425070" "00423760" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425071" "00423761" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425072" "00423762" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425073" "00423763" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425074" "00423764" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425075" "00423765" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425076" "00423766" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425077" "00423767" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425078" "00423768" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425079" "00423769" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425080" "00423770" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425081" "00423771" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425082" "00423772" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425083" "00423773" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425084" "00423774" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425085" "00423775" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425086" "00423776" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425087" "00423777" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425088" "00423778" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425089" "00423779" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425090" "00423780" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425091" "00423781" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425092" "00423782" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425093" "00423783" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425094" "00423784" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425095" "00423785" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425096" "00423786" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425097" "00423787" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425098" "00423788" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425099" "00423789" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425100" "00423790" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425101" "00423791" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425102" "00423792" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425103" "00423793" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425104" "00423794" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425105" "00423795" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425106" "00423796" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425107" "00423797" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425108" "00423798" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425109" "00423799" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425110" "00423800" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425111" "00423801" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425112" "00423802" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425113" "00423803" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425114" "00423804" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425115" "00423805" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425116" "00423806" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425117" "00423807" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425118" "00423808" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425119" "00423809" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425120" "00423810" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425121" "00423811" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425122" "00423812" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425123" "00423813" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425124" "00423814" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425125" "00423815" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425126" "00423816" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425127" "00423817" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425128" "00423818" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425129" "00423819" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425130" "00423820" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425131" "00423821" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425132" "00423822" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425133" "00423823" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425134" "00423824" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425135" "00423825" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425136" "00423826" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425137" "00423827" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425138" "00423828" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425139" "00423829" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425140" "00423830" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425141" "00423831" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425142" "00423832" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425143" "00423833" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425144" "00423834" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425145" "00423835" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425146" "00423836" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425147" "00423837" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425148" "00423838" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425149" "00423839" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425150" "00423840" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425151" "00423841" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425152" "00423842" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425153" "00423843" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425154" "00423844" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425155" "00423845" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425156" "00423846" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425157" "00423847" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425158" "00423848" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425159" "00423849" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425160" "00423850" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425161" "00423851" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425162" "00423852" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425163" "00423853" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425164" "00423854" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425165" "00423855" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425166" "00423856" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425167" "00423857" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425168" "00423858" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425169" "00423859" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425170" "00423860" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425171" "00423861" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425172" "00423862" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425173" "00423863" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425174" "00423864" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425175" "00423865" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425176" "00423866" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425177" "00423867" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425178" "00423868" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425179" "00423869" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425180" "00423870" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425181" "00423871" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425182" "00423872" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425183" "00423873" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425184" "00423874" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425185" "00423875" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425186" "00423876" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425187" "00423877" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425188" "00423878" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425189" "00423879" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425190" "00423880" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425191" "00423881" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425192" "00423882" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425193" "00423883" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425194" "00423884" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425195" "00423885" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425196" "00423886" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425197" "00423887" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425198" "00423888" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425199" "00423889" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425200" "00423890" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425201" "00423891" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425202" "00423892" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425203" "00423893" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425204" "00423894" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425205" "00423895" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425206" "00423896" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425207" "00423897" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425208" "00423898" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425209" "00423899" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425210" "00423900" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425211" "00423901" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425212" "00423902" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425213" "00423903" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425214" "00423904" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425215" "00423905" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425216" "00423906" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425217" "00423907" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425218" "00423908" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425219" "00423909" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425220" "00423910" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425221" "00423911" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425222" "00423912" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425223" "00423913" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425224" "00423914" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425225" "00423915" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425226" "00423916" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425227" "00423917" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425228" "00423918" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425229" "00423919" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425230" "00423920" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425231" "00423921" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425232" "00423922" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425233" "00423923" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425234" "00423924" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425235" "00423925" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425236" "00423926" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425237" "00423927" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425238" "00423928" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425239" "00423929" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425240" "00423930" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425241" "00423931" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425242" "00423932" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425243" "00423933" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425244" "00423934" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425245" "00423935" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425246" "00423936" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425247" "00423937" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425248" "00423938" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425249" "00423939" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425250" "00423940" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425251" "00423941" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425252" "00423942" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425253" "00423943" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425254" "00423944" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425255" "00423945" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425256" "00423946" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425257" "00423947" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425258" "00423948" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425259" "00423949" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425260" "00423950" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425261" "00423951" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425262" "00423952" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425263" "00423953" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425264" "00423954" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425265" "00423955" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425266" "00423956" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425267" "00423957" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425268" "00423958" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425269" "00423959" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425270" "00423960" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425271" "00423961" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425272" "00423962" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425273" "00423963" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425274" "00423964" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425275" "00423965" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425276" "00423966" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425277" "00423967" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425278" "00423968" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425279" "00423969" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425280" "00423970" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425281" "00423971" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425282" "00423972" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425283" "00423973" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425284" "00423974" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425285" "00423975" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425286" "00423976" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425287" "00423977" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425288" "00423978" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425289" "00423979" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425290" "00423980" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425291" "00423981" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425292" "00423982" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425293" "00423983" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425294" "00423984" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425295" "00423985" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425296" "00423986" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425297" "00423987" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425298" "00423988" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425299" "00423989" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425300" "00423990" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425301" "00423991" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425302" "00423992" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425303" "00423993" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425304" "00423994" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425305" "00423995" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425306" "00423996" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425307" "00423997" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425308" "00423998" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425309" "00423999" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425310" "00424000" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425311" "00424001" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425312" "00424002" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425313" "00424003" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425314" "00424004" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425315" "00424005" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425316" "00424006" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425317" "00424007" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425318" "00424008" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425319" "00424009" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425320" "00424010" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000425321" "00424011" "1" "00000" "00008" "2022-11-15 23:06:56" "" "" "MIPsm" "DNA" "" "smMIPs-based complete ABCA4 gene"
"0000426115" "00424802" "1" "00000" "03840" "2022-11-22 14:46:56" "" "" "DHPLC" "DNA" "" ""
"0000426116" "00424803" "1" "00000" "03840" "2022-11-22 14:46:56" "" "" "DHPLC" "DNA" "" ""
"0000426117" "00424804" "1" "00000" "03840" "2022-11-22 14:46:56" "" "" "DHPLC" "DNA" "" ""
"0000426118" "00424805" "1" "00000" "03840" "2022-11-22 14:46:56" "" "" "DHPLC" "DNA" "" ""
"0000426119" "00424806" "1" "00000" "03840" "2022-11-22 14:46:56" "" "" "DHPLC" "DNA" "" ""
"0000426120" "00424807" "1" "00000" "03840" "2022-11-22 14:46:56" "" "" "DHPLC" "DNA" "" ""
"0000426121" "00424808" "1" "00000" "03840" "2022-11-22 14:46:56" "" "" "DHPLC" "DNA" "" ""
"0000426122" "00424809" "1" "00000" "03840" "2022-11-22 14:46:56" "" "" "DHPLC" "DNA" "" ""
"0000426123" "00424810" "1" "00000" "03840" "2022-11-22 14:46:56" "" "" "DHPLC" "DNA" "" ""
"0000426124" "00424811" "1" "00000" "03840" "2022-11-22 14:46:56" "" "" "DHPLC" "DNA" "" ""
"0000426125" "00424812" "1" "00000" "03840" "2022-11-22 14:46:56" "" "" "DHPLC" "DNA" "" ""
"0000426126" "00424813" "1" "00000" "03840" "2022-11-22 14:46:56" "" "" "DHPLC" "DNA" "" ""
"0000426127" "00424814" "1" "00000" "03840" "2022-11-22 14:46:56" "" "" "DHPLC" "DNA" "" ""
"0000426128" "00424815" "1" "00000" "03840" "2022-11-22 14:46:56" "" "" "DHPLC" "DNA" "" ""
"0000426129" "00424816" "1" "00000" "03840" "2022-11-22 14:46:56" "" "" "DHPLC" "DNA" "" ""
"0000426130" "00424817" "1" "00000" "03840" "2022-11-22 14:46:56" "" "" "DHPLC" "DNA" "" ""
"0000426131" "00424818" "1" "00000" "03840" "2022-11-22 14:46:56" "" "" "DHPLC" "DNA" "" ""
"0000426132" "00424819" "1" "00000" "03840" "2022-11-22 14:46:56" "" "" "DHPLC" "DNA" "" ""
"0000426133" "00424820" "1" "00000" "03840" "2022-11-22 14:46:56" "" "" "DHPLC" "DNA" "" ""
"0000426134" "00424821" "1" "00000" "03840" "2022-11-22 14:46:56" "" "" "DHPLC" "DNA" "" ""
"0000426135" "00424822" "1" "00000" "03840" "2022-11-22 14:46:56" "" "" "DHPLC" "DNA" "" ""
"0000426136" "00424823" "1" "00000" "03840" "2022-11-22 14:46:56" "" "" "DHPLC" "DNA" "" ""
"0000426137" "00424824" "1" "00000" "03840" "2022-11-22 14:46:56" "" "" "DHPLC" "DNA" "" ""
"0000426138" "00424825" "1" "00000" "03840" "2022-11-22 14:46:56" "" "" "DHPLC" "DNA" "" ""
"0000426139" "00424826" "1" "00000" "03840" "2022-11-22 14:46:56" "" "" "DHPLC" "DNA" "" ""
"0000426143" "00424830" "1" "00006" "00006" "2022-11-22 16:40:04" "" "" "SEQ" "DNA" "" ""
"0000426144" "00424831" "1" "00006" "00006" "2022-11-22 16:40:04" "" "" "SEQ" "DNA" "" ""
"0000426145" "00424832" "1" "00006" "00006" "2022-11-22 16:40:04" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000426146" "00424833" "1" "00006" "00006" "2022-11-22 16:40:04" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000426147" "00424834" "1" "00006" "00006" "2022-11-22 16:40:04" "" "" "SEQ" "DNA" "" ""
"0000426148" "00424835" "1" "00006" "00006" "2022-11-22 16:40:04" "" "" "SEQ" "DNA" "" ""
"0000426149" "00424836" "1" "00006" "00006" "2022-11-22 16:40:04" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000426150" "00424837" "1" "00006" "00006" "2022-11-22 16:40:04" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000426151" "00424838" "1" "00006" "00006" "2022-11-22 16:40:04" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000426152" "00424839" "1" "00006" "00006" "2022-11-22 16:40:04" "" "" "SEQ" "DNA" "" ""
"0000426153" "00424840" "1" "00006" "00006" "2022-11-22 16:40:04" "" "" "SEQ" "DNA" "" ""
"0000426154" "00424841" "1" "00006" "00006" "2022-11-22 16:40:04" "" "" "SEQ" "DNA" "" ""
"0000426155" "00424842" "1" "00006" "00006" "2022-11-22 16:40:04" "" "" "SEQ" "DNA" "" ""
"0000426156" "00424843" "1" "00006" "00006" "2022-11-22 16:40:04" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000426157" "00424844" "1" "00006" "00006" "2022-11-22 16:40:04" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000426158" "00424845" "1" "00006" "00006" "2022-11-22 16:40:04" "" "" "SEQ" "DNA" "" ""
"0000426159" "00424846" "1" "00006" "00006" "2022-11-22 16:40:04" "" "" "SEQ" "DNA" "" ""
"0000426160" "00424847" "1" "00006" "00006" "2022-11-22 16:40:04" "" "" "SEQ" "DNA" "" ""
"0000426161" "00424848" "1" "00006" "00006" "2022-11-22 16:40:04" "" "" "SEQ" "DNA" "" ""
"0000426162" "00424849" "1" "00006" "00006" "2022-11-22 16:40:04" "" "" "SEQ" "DNA" "" ""
"0000426163" "00424850" "1" "00006" "00006" "2022-11-22 16:40:04" "" "" "SEQ" "DNA" "" ""
"0000426164" "00424851" "1" "00006" "00006" "2022-11-22 16:40:04" "" "" "SEQ" "DNA" "" ""
"0000426165" "00424852" "1" "00006" "00006" "2022-11-22 16:40:04" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000426166" "00424853" "1" "00006" "00006" "2022-11-22 16:40:04" "" "" "SEQ" "DNA" "" ""
"0000426167" "00424854" "1" "00006" "00006" "2022-11-22 16:40:04" "" "" "SEQ" "DNA" "" ""
"0000426168" "00424855" "1" "00006" "00006" "2022-11-22 16:40:04" "" "" "SEQ" "DNA" "" ""
"0000426169" "00424856" "1" "00006" "00006" "2022-11-22 16:40:04" "" "" "SEQ" "DNA" "" ""
"0000426170" "00424857" "1" "00006" "00006" "2022-11-22 16:40:04" "" "" "SEQ" "DNA" "" ""
"0000426171" "00424858" "1" "00006" "00006" "2022-11-22 16:40:04" "" "" "SEQ" "DNA" "" ""
"0000426172" "00424859" "1" "00006" "00006" "2022-11-22 16:40:04" "" "" "SEQ" "DNA" "" ""
"0000426173" "00424860" "1" "00006" "00006" "2022-11-22 16:40:04" "" "" "SEQ" "DNA" "" ""
"0000426174" "00424861" "1" "00006" "00006" "2022-11-22 16:40:04" "" "" "SEQ" "DNA" "" ""
"0000426175" "00424862" "1" "00006" "00006" "2022-11-22 16:40:04" "" "" "SEQ" "DNA" "" ""
"0000426176" "00424863" "1" "00006" "00006" "2022-11-22 16:40:04" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000426177" "00424864" "1" "00006" "00006" "2022-11-22 16:40:04" "" "" "SEQ" "DNA" "" ""
"0000426178" "00424865" "1" "00006" "00006" "2022-11-22 16:40:04" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000426179" "00424866" "1" "00006" "00006" "2022-11-22 16:40:04" "" "" "SEQ" "DNA" "" ""
"0000426180" "00424867" "1" "00006" "00006" "2022-11-22 16:40:04" "" "" "SEQ" "DNA" "" ""
"0000426181" "00424868" "1" "00006" "00006" "2022-11-22 16:40:04" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000426182" "00424869" "1" "00006" "00006" "2022-11-22 16:40:04" "" "" "SEQ" "DNA" "" ""
"0000426183" "00424870" "1" "00006" "00006" "2022-11-22 16:40:04" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000426184" "00424871" "1" "00006" "00006" "2022-11-22 16:40:04" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000426185" "00424872" "1" "00006" "00006" "2022-11-22 16:40:04" "" "" "SEQ" "DNA" "" ""
"0000426186" "00424873" "1" "00006" "00006" "2022-11-22 16:40:04" "" "" "SEQ" "DNA" "" ""
"0000426187" "00424874" "1" "00006" "00006" "2022-11-22 16:40:04" "" "" "SEQ" "DNA" "" ""
"0000426188" "00424875" "1" "00006" "00006" "2022-11-22 16:40:04" "" "" "SEQ" "DNA" "" ""
"0000426189" "00424876" "1" "00006" "00006" "2022-11-22 16:40:04" "" "" "SEQ" "DNA" "" ""
"0000426190" "00424877" "1" "00006" "00006" "2022-11-22 16:40:04" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000426191" "00424878" "1" "00006" "00006" "2022-11-22 16:40:04" "" "" "SEQ" "DNA" "" ""
"0000426192" "00424879" "1" "00006" "00006" "2022-11-22 16:40:04" "" "" "SEQ" "DNA" "" ""
"0000426193" "00424880" "1" "00006" "00006" "2022-11-22 16:40:04" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000426194" "00424881" "1" "00006" "00006" "2022-11-22 16:40:04" "" "" "SEQ" "DNA" "" ""
"0000426195" "00424882" "1" "00006" "00006" "2022-11-22 16:40:04" "" "" "SEQ" "DNA" "" ""
"0000426196" "00424883" "1" "00006" "00006" "2022-11-22 16:40:04" "" "" "SEQ" "DNA" "" ""
"0000426197" "00424884" "1" "00006" "00006" "2022-11-22 16:40:04" "" "" "SEQ" "DNA" "" ""
"0000426198" "00424885" "1" "00006" "00006" "2022-11-22 16:40:04" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000426199" "00424886" "1" "00006" "00006" "2022-11-22 16:40:04" "" "" "SEQ" "DNA" "" ""
"0000426200" "00424887" "1" "00006" "00006" "2022-11-22 16:40:04" "" "" "SEQ" "DNA" "" ""
"0000426201" "00424888" "1" "00006" "00006" "2022-11-22 16:40:04" "" "" "SEQ" "DNA" "" ""
"0000426202" "00424889" "1" "00006" "00006" "2022-11-22 16:40:04" "" "" "SEQ" "DNA" "" ""
"0000426203" "00424890" "1" "00006" "00006" "2022-11-22 16:40:04" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000426204" "00424891" "1" "00006" "00006" "2022-11-22 16:40:04" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000426205" "00424892" "1" "00006" "00006" "2022-11-22 16:40:04" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000426206" "00424893" "1" "00006" "00006" "2022-11-22 16:40:04" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000426207" "00424894" "1" "00006" "00006" "2022-11-22 16:40:04" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000426208" "00424895" "1" "00006" "00006" "2022-11-22 16:40:04" "" "" "SEQ" "DNA" "" ""
"0000426209" "00424896" "1" "00006" "00006" "2022-11-22 16:40:04" "" "" "SEQ" "DNA" "" ""
"0000426211" "00424898" "1" "00000" "03840" "2022-11-22 18:55:07" "" "" "RFLP" "DNA" "" ""
"0000426212" "00424899" "1" "00000" "03840" "2022-11-22 18:55:07" "" "" "RFLP" "DNA" "" ""
"0000426213" "00424900" "1" "00000" "03840" "2022-11-22 18:55:07" "" "" "RFLP" "DNA" "" ""
"0000426214" "00424901" "1" "00000" "03840" "2022-11-22 19:37:02" "" "" "?" "DNA" "" ""
"0000426215" "00424902" "1" "00000" "03840" "2022-11-22 20:08:46" "" "" "?" "DNA" "" ""
"0000426216" "00424903" "1" "00000" "03840" "2022-11-22 20:08:46" "" "" "?" "DNA" "" ""
"0000426217" "00424904" "1" "00000" "03840" "2022-11-22 20:08:46" "" "" "?" "DNA" "" ""
"0000426235" "00424917" "1" "00000" "03840" "2022-11-23 14:48:30" "" "" "?" "DNA" "" ""
"0000426236" "00424918" "1" "00000" "03840" "2022-11-23 14:48:30" "" "" "?" "DNA" "" ""
"0000426237" "00424919" "1" "00000" "03840" "2022-11-23 14:48:30" "" "" "?" "DNA" "" ""
"0000426238" "00424920" "1" "00000" "03840" "2022-11-23 14:48:30" "" "" "?" "DNA" "" ""
"0000426239" "00424921" "1" "00000" "03840" "2022-11-23 14:48:30" "" "" "?" "DNA" "" ""
"0000426240" "00424922" "1" "00000" "03840" "2022-11-23 14:48:30" "" "" "?" "DNA" "" ""
"0000426241" "00424923" "1" "00000" "03840" "2022-11-23 14:48:30" "" "" "?" "DNA" "" ""
"0000426242" "00424924" "1" "00000" "03840" "2022-11-23 14:48:30" "" "" "?" "DNA" "" ""
"0000426243" "00424925" "1" "00000" "03840" "2022-11-23 14:48:30" "" "" "?" "DNA" "" ""
"0000426244" "00424926" "1" "00000" "03840" "2022-11-23 14:48:30" "" "" "?" "DNA" "" ""
"0000426245" "00424927" "1" "00000" "03840" "2022-11-23 14:48:30" "" "" "?" "DNA" "" ""
"0000426246" "00424928" "1" "00000" "03840" "2022-11-23 14:48:30" "" "" "?" "DNA" "" ""
"0000426247" "00424929" "1" "00000" "03840" "2022-11-23 14:48:30" "" "" "?" "DNA" "" ""
"0000426248" "00424930" "1" "00000" "03840" "2022-11-23 14:48:30" "" "" "?" "DNA" "" ""
"0000426249" "00424931" "1" "00000" "03840" "2022-11-23 14:48:30" "" "" "?" "DNA" "" ""
"0000426250" "00424932" "1" "00000" "03840" "2022-11-23 14:48:30" "" "" "?" "DNA" "" ""
"0000426251" "00424933" "1" "00000" "03840" "2022-11-23 14:48:30" "" "" "?" "DNA" "" ""
"0000426252" "00424934" "1" "00000" "03840" "2022-11-23 14:48:30" "" "" "?" "DNA" "" ""
"0000426253" "00424935" "1" "00000" "03840" "2022-11-23 14:48:30" "" "" "?" "DNA" "" ""
"0000426254" "00424936" "1" "00000" "03840" "2022-11-23 14:48:30" "" "" "?" "DNA" "" ""
"0000427798" "00426478" "1" "00000" "03840" "2022-12-01 14:55:22" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000427931" "00426610" "1" "00000" "03840" "2022-12-01 17:16:46" "" "" "SEQ-NG;SEQ" "DNA" "" ""
"0000427948" "00426630" "1" "00000" "03840" "2022-12-02 10:07:08" "" "" "SEQ-NG;SEQ" "DNA" "" "next-generation sequencing customized panel and manipulated a whole-exon targeted-sequencing study"
"0000427949" "00426631" "1" "00000" "03840" "2022-12-02 10:07:08" "" "" "SEQ-NG;SEQ" "DNA" "" "next-generation sequencing customized panel and manipulated a whole-exon targeted-sequencing study"
"0000427950" "00426632" "1" "00000" "03840" "2022-12-02 10:07:08" "" "" "SEQ-NG;SEQ" "DNA" "" "next-generation sequencing customized panel and manipulated a whole-exon targeted-sequencing study"
"0000427951" "00426633" "1" "00000" "03840" "2022-12-02 10:07:08" "" "" "SEQ-NG;SEQ" "DNA" "" "next-generation sequencing customized panel and manipulated a whole-exon targeted-sequencing study"
"0000427952" "00426634" "1" "00000" "03840" "2022-12-02 10:07:08" "" "" "SEQ-NG;SEQ" "DNA" "" "next-generation sequencing customized panel and manipulated a whole-exon targeted-sequencing study"
"0000427966" "00426646" "1" "00000" "03840" "2022-12-02 12:04:56" "" "" "SEQ-NG;SEQ" "DNA" "" "whole exome sequencing"
"0000427967" "00426647" "1" "00000" "03840" "2022-12-02 12:04:56" "" "" "SEQ-NG;SEQ" "DNA" "" "whole exome sequencing"
"0000427972" "00426652" "1" "00000" "03840" "2022-12-02 12:55:14" "" "" "?" "DNA" "" ""
"0000428223" "00426903" "1" "00000" "03840" "2022-12-03 18:53:15" "" "" "SEQ-NG;SEQ" "DNA" "saliva" "panel-based next generation sequencing"
"0000428232" "00426912" "1" "00000" "03840" "2022-12-03 18:53:15" "" "" "SEQ-NG;SEQ" "DNA" "saliva" "panel-based next generation sequencing"
"0000428252" "00426932" "1" "00000" "03840" "2022-12-03 18:53:15" "" "" "SEQ-NG;SEQ" "DNA" "saliva" "panel-based next generation sequencing"
"0000428266" "00426946" "1" "00000" "03840" "2022-12-03 18:53:15" "" "" "SEQ-NG;SEQ" "DNA" "saliva" "panel-based next generation sequencing"
"0000428267" "00426947" "1" "00000" "03840" "2022-12-03 18:53:15" "" "" "SEQ-NG;SEQ" "DNA" "saliva" "panel-based next generation sequencing"
"0000428268" "00426948" "1" "00000" "03840" "2022-12-03 18:53:15" "" "" "SEQ-NG;SEQ" "DNA" "saliva" "panel-based next generation sequencing"
"0000428269" "00426949" "1" "00000" "03840" "2022-12-03 18:53:15" "" "" "SEQ-NG;SEQ" "DNA" "saliva" "panel-based next generation sequencing"
"0000428270" "00426950" "1" "00000" "03840" "2022-12-03 18:53:15" "" "" "SEQ-NG;SEQ" "DNA" "saliva" "panel-based next generation sequencing"
"0000428976" "00427655" "1" "00000" "03840" "2022-12-08 19:01:33" "" "" "SSCA;SEQ" "DNA" "" ""
"0000428977" "00427656" "1" "00000" "03840" "2022-12-08 19:01:33" "" "" "PE;DGGE;SEQ" "DNA" "" ""
"0000428978" "00427657" "1" "00000" "03840" "2022-12-08 19:01:33" "" "" "SSCA;SEQ" "DNA" "" ""
"0000428979" "00427658" "1" "00000" "03840" "2022-12-08 19:01:33" "" "" "SSCA;SEQ" "DNA" "" ""
"0000428980" "00427659" "1" "00000" "03840" "2022-12-08 19:01:33" "" "" "SSCA;SEQ" "DNA" "" ""
"0000428981" "00427660" "1" "00000" "03840" "2022-12-08 19:01:33" "" "" "SSCA;SEQ" "DNA" "" ""
"0000428982" "00427661" "1" "00000" "03840" "2022-12-08 19:01:33" "" "" "arraySNP;SEQ" "DNA" "" ""
"0000428983" "00427662" "1" "00000" "03840" "2022-12-08 19:01:33" "" "" "arraySNP;SEQ" "DNA" "" ""
"0000428984" "00427663" "1" "00000" "03840" "2022-12-08 19:01:33" "" "" "SSCA;SEQ" "DNA" "" ""
"0000430895" "00429482" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing"
"0000430928" "00429515" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing"
"0000430934" "00429521" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing"
"0000430936" "00429523" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing"
"0000430940" "00429527" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing"
"0000430950" "00429537" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing"
"0000430974" "00429561" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing"
"0000431031" "00429618" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing"
"0000431045" "00429632" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing"
"0000431053" "00429640" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing"
"0000431060" "00429647" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing"
"0000431089" "00429676" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing"
"0000431135" "00429722" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing"
"0000431177" "00429764" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing"
"0000431233" "00429820" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing"
"0000431244" "00429831" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing"
"0000431274" "00429861" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing"
"0000431348" "00429935" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing"
"0000431363" "00429950" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing"
"0000431381" "00429968" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing"
"0000431419" "00430006" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing"
"0000431420" "00430007" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing"
"0000431421" "00430008" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing"
"0000431547" "00430134" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing"
"0000431951" "00430542" "1" "04333" "04333" "2023-01-22 10:18:13" "" "" "MIP" "DNA" "" ""
"0000433977" "00432535" "1" "04473" "04473" "2023-02-24 19:48:30" "" "" "SEQ-NG-I" "DNA" "Peripheral Blood Sample" ""
"0000433978" "00432536" "1" "04473" "04473" "2023-02-24 20:08:34" "" "" "SEQ-NG-I" "DNA" "Peripheral Blood Sample" ""
"0000433979" "00432537" "1" "04473" "04473" "2023-02-25 17:02:29" "" "" "SEQ-NG-I" "DNA" "Peripheral Blood Sample" ""
"0000433980" "00432538" "1" "04473" "04473" "2023-02-25 17:10:05" "" "" "SEQ-NG-I" "DNA" "Peripheral Blood Sample" ""
"0000433981" "00432539" "1" "04473" "04473" "2023-02-25 17:15:02" "" "" "SEQ-NG-I" "DNA" "Peripheral Blood Sample" ""
"0000433982" "00432540" "1" "04473" "04473" "2023-02-25 17:28:23" "" "" "SEQ-NG-I" "DNA" "Peripheral Blood Sample" ""
"0000433983" "00432541" "1" "04473" "04473" "2023-02-25 17:35:00" "" "" "SEQ-NG-I" "DNA" "Peripheral Blood Sample" ""
"0000433984" "00432542" "1" "04473" "04473" "2023-02-25 18:13:05" "" "" "SEQ-NG-I" "DNA" "Peripheral Blood Sample" ""
"0000433985" "00432543" "1" "04473" "04473" "2023-02-25 18:23:35" "" "" "SEQ-NG-I" "DNA" "Peripheral Blood Sample" ""
"0000433986" "00432544" "1" "04473" "04473" "2023-02-25 18:26:36" "" "" "SEQ-NG-I" "DNA" "Peripheral Blood Sample" ""
"0000433987" "00432545" "1" "04473" "04473" "2023-02-25 18:30:59" "" "" "SEQ-NG-I" "DNA" "Peripheral Blood Sample" ""
"0000433988" "00432546" "1" "04473" "04473" "2023-02-25 18:37:11" "" "" "SEQ-NG-I" "DNA" "Peripheral Blood Sample" ""
"0000433989" "00432547" "1" "04473" "04473" "2023-02-25 19:08:21" "" "" "SEQ-NG-I" "DNA" "Peripheral Blood Sample" ""
"0000433990" "00432548" "1" "04473" "04473" "2023-02-25 19:11:27" "" "" "SEQ-NG-I" "DNA" "Peripheral Blood Sample" ""
"0000433991" "00432549" "1" "04473" "04473" "2023-02-25 19:14:52" "" "" "SEQ-NG-I" "DNA" "Peripheral Blood Sample" ""
"0000433992" "00432550" "1" "04473" "04473" "2023-02-25 19:22:28" "" "" "SEQ-NG-I" "DNA" "Peripheral Blood Sample" ""
"0000434309" "00432867" "1" "04473" "04473" "2023-02-26 17:21:02" "" "" "SEQ-NG-I" "DNA" "Peripheral Blood Sample" ""
"0000434310" "00432868" "1" "04473" "04473" "2023-02-26 17:53:23" "" "" "SEQ-NG-I" "DNA" "Peripheral Blood Sample" ""
"0000434311" "00432869" "1" "04473" "04473" "2023-02-26 18:03:11" "" "" "SEQ-NG-I" "DNA" "Peripheral Blood Sample" ""
"0000434312" "00432870" "1" "04473" "04473" "2023-02-26 18:09:10" "" "" "SEQ-NG-I" "DNA" "Peripheral Blood Sample" ""
"0000434313" "00432871" "1" "04473" "04473" "2023-02-26 18:19:40" "" "" "SEQ-NG-I" "DNA" "Peripheral Blood Sample" ""
"0000434314" "00432872" "1" "04473" "04473" "2023-02-26 18:23:08" "" "" "SEQ-NG-I" "DNA" "Peripheral Blood Sample" ""
"0000434315" "00432873" "1" "04473" "04473" "2023-02-26 18:26:41" "" "" "SEQ-NG-I" "DNA" "Peripheral Blood Sample" ""
"0000434316" "00432874" "1" "04473" "04473" "2023-02-26 18:30:57" "" "" "SEQ-NG-I" "DNA" "Peripheral Blood Sample" ""
"0000434317" "00432875" "1" "04473" "04473" "2023-02-26 18:35:15" "" "" "SEQ-NG-I" "DNA" "Peripheral Blood Sample" ""
"0000434318" "00432876" "1" "04473" "04473" "2023-02-26 18:39:33" "" "" "SEQ-NG-I" "DNA" "Peripheral Blood Sample" ""
"0000434319" "00432877" "1" "04473" "04473" "2023-02-26 19:07:10" "" "" "SEQ-NG-I" "DNA" "Peripheral Blood Sample" ""
"0000434320" "00432878" "1" "04473" "04473" "2023-02-26 19:20:10" "" "" "SEQ-NG-I" "DNA" "Peripheral Blood Sample" ""
"0000434321" "00432879" "1" "04473" "04473" "2023-02-26 19:25:37" "" "" "SEQ-NG-I" "DNA" "Peripheral Blood Sample" ""
"0000434322" "00432880" "1" "04473" "04473" "2023-02-26 19:30:50" "" "" "SEQ-NG-I" "DNA" "Peripheral Blood Sample" ""
"0000434323" "00432881" "1" "04473" "04473" "2023-02-26 19:34:00" "" "" "SEQ-NG-I" "DNA" "Peripheral Blood Sample" ""
"0000434324" "00432882" "1" "04473" "04473" "2023-02-26 19:38:06" "" "" "SEQ-NG-I" "DNA" "Peripheral Blood Sample" ""
"0000434325" "00432883" "1" "04473" "04473" "2023-02-26 19:41:08" "" "" "SEQ-NG-I" "DNA" "Peripheral Blood Sample" ""
"0000434326" "00432884" "1" "04473" "04473" "2023-02-26 19:46:20" "" "" "SEQ-NG-I" "DNA" "Peripheral Blood Sample" ""
"0000434327" "00432885" "1" "04473" "04473" "2023-02-26 19:49:34" "" "" "SEQ-NG-I" "DNA" "Peripheral Blood Sample" ""
"0000434328" "00432886" "1" "04473" "04473" "2023-02-26 19:55:25" "" "" "SEQ-NG-I" "DNA" "Peripheral Blood Sample" ""
"0000434329" "00432887" "1" "04473" "04473" "2023-02-26 19:58:37" "" "" "SEQ-NG-I" "DNA" "Peripheral Blood Sample" ""
"0000434330" "00432888" "1" "04473" "04473" "2023-02-26 20:01:53" "" "" "SEQ-NG-I" "DNA" "Peripheral Blood Sample" ""
"0000434331" "00432889" "1" "04473" "04473" "2023-02-26 20:05:29" "" "" "SEQ-NG-I" "DNA" "Peripheral Blood Sample" ""
"0000434332" "00432890" "1" "04473" "04473" "2023-02-26 20:08:35" "" "" "SEQ-NG-I" "DNA" "Peripheral Blood Sample" ""
"0000434333" "00432891" "1" "04473" "04473" "2023-02-26 20:17:33" "" "" "SEQ-NG-I" "DNA" "Peripheral Blood Sample" ""
"0000434334" "00432892" "1" "04473" "04473" "2023-02-26 20:21:05" "" "" "SEQ-NG-I" "DNA" "Peripheral Blood Sample" ""
"0000434335" "00432893" "1" "04473" "04473" "2023-02-26 20:27:16" "" "" "SEQ-NG-I" "DNA" "Peripheral Blood Sample" ""
"0000434336" "00432894" "1" "04473" "04473" "2023-02-26 20:48:16" "" "" "SEQ-NG-I" "DNA" "Peripheral Blood Sample" ""
"0000434337" "00432895" "1" "04473" "04473" "2023-02-26 20:51:09" "" "" "SEQ-NG-I" "DNA" "Peripheral Blood Sample" ""
"0000434338" "00432896" "1" "04473" "04473" "2023-02-26 22:45:59" "" "" "SEQ-NG-I" "DNA" "Peripheral Blood Sample" ""
"0000434339" "00432897" "1" "04473" "04473" "2023-02-26 22:51:06" "" "" "SEQ-NG-I" "DNA" "Peripheral Blood Sample" ""
"0000434340" "00432898" "1" "04473" "04473" "2023-02-26 22:58:56" "" "" "SEQ-NG-I" "DNA" "Peripheral Blood Sample" ""
"0000434341" "00432899" "1" "04473" "04473" "2023-02-26 23:03:04" "" "" "SEQ-NG-I" "DNA" "Peripheral Blood Sample" ""
"0000434342" "00432900" "1" "04473" "04473" "2023-02-26 23:10:07" "" "" "SEQ-NG-I" "DNA" "Peripheral Blood Sample" ""
"0000434343" "00432901" "1" "04473" "04473" "2023-02-26 23:13:19" "" "" "SEQ-NG-I" "DNA" "Peripheral Blood Sample" ""
"0000434344" "00432902" "1" "04473" "04473" "2023-02-26 23:17:58" "" "" "SEQ-NG-I" "DNA" "Peripheral Blood Sample" ""
"0000434345" "00432903" "1" "04473" "04473" "2023-02-26 23:22:34" "" "" "SEQ-NG-I" "DNA" "Peripheral Blood Sample" ""
"0000434346" "00432904" "1" "04473" "04473" "2023-02-26 23:26:20" "" "" "SEQ-NG-I" "DNA" "Peripheral Blood Sample" ""
"0000434347" "00432905" "1" "04473" "04473" "2023-02-26 23:30:19" "" "" "SEQ-NG-I" "DNA" "Peripheral Blood Sample" ""
"0000434348" "00432906" "1" "04473" "04473" "2023-02-26 23:33:46" "" "" "SEQ-NG-I" "DNA" "Peripheral Blood Sample" ""
"0000434349" "00432907" "1" "04473" "04473" "2023-02-26 23:39:55" "" "" "SEQ-NG-I" "DNA" "Peripheral Blood Sample" ""
"0000434350" "00432908" "1" "04473" "04473" "2023-02-26 23:51:25" "" "" "SEQ-NG-I" "DNA" "Peripheral Blood Sample" ""
"0000434351" "00432909" "1" "04473" "04473" "2023-02-26 23:59:19" "" "" "SEQ-NG-I" "DNA" "Peripheral Blood Sample" ""
"0000434352" "00432910" "1" "04473" "04473" "2023-02-27 00:02:50" "" "" "SEQ-NG-I" "DNA" "Peripheral Blood Sample" ""
"0000434353" "00432911" "1" "04473" "04473" "2023-02-27 00:06:21" "" "" "SEQ-NG-I" "DNA" "Peripheral Blood Sample" ""
"0000434354" "00432912" "1" "04473" "04473" "2023-02-27 00:13:42" "" "" "SEQ-NG-I" "DNA" "Peripheral Blood Sample" ""
"0000434355" "00432913" "1" "04473" "04473" "2023-02-27 00:17:30" "" "" "SEQ-NG-I" "DNA" "Peripheral Blood Sample" ""
"0000434356" "00432914" "1" "04473" "04473" "2023-02-27 00:21:20" "" "" "SEQ-NG-I" "DNA" "Peripheral Blood Sample" ""
"0000434357" "00432915" "1" "04473" "04473" "2023-02-27 00:27:29" "" "" "SEQ-NG-I" "DNA" "Peripheral Blood Sample" ""
"0000434358" "00432916" "1" "04473" "04473" "2023-02-27 00:30:39" "" "" "SEQ-NG-I" "DNA" "Peripheral Blood Sample" ""
"0000434359" "00432917" "1" "04473" "04473" "2023-02-27 00:34:32" "" "" "SEQ-NG-I" "DNA" "Peripheral Blood Sample" ""
"0000434360" "00432918" "1" "04473" "04473" "2023-02-27 00:38:12" "" "" "SEQ-NG-I" "DNA" "Peripheral Blood Sample" ""
"0000434361" "00432919" "1" "04473" "04473" "2023-02-27 00:44:33" "" "" "SEQ-NG-I" "DNA" "Peripheral Blood Sample" ""
"0000434362" "00432920" "1" "04473" "04473" "2023-02-27 00:47:30" "" "" "SEQ-NG-I" "DNA" "Peripheral Blood Sample" ""
"0000434363" "00432921" "1" "04473" "04473" "2023-02-27 00:50:49" "" "" "SEQ-NG-I" "DNA" "Peripheral Blood Sample" ""
"0000436575" "00435103" "1" "04300" "04300" "2023-05-10 20:54:37" "04300" "2024-01-29 03:18:24" "SEQ-NG" "DNA" "" ""
"0000436576" "00435104" "1" "04300" "04300" "2023-05-10 21:02:36" "00006" "2024-01-29 14:30:11" "SEQ-NG" "DNA" "" ""
"0000436577" "00435105" "1" "04300" "04300" "2023-05-10 21:05:23" "00006" "2024-01-29 14:29:12" "SEQ-NG" "DNA" "" ""
"0000436588" "00435116" "1" "04506" "04506" "2023-05-15 12:19:22" "" "" "SEQ-NG" "DNA" "" ""
"0000436590" "00435118" "1" "04506" "04506" "2023-05-15 13:04:39" "" "" "SEQ-NG" "DNA" "" ""
"0000436603" "00435130" "1" "04473" "04473" "2023-05-21 22:41:18" "" "" "SEQ-NG-I" "DNA" "Peripheral Blood Sample" ""
"0000436607" "00435134" "1" "04473" "04473" "2023-05-21 23:02:22" "" "" "SEQ-NG-I" "DNA" "Peripheral Blood Sample" ""
"0000436608" "00435135" "1" "04473" "04473" "2023-05-21 23:05:43" "" "" "SEQ-NG-I" "DNA" "Peripheral Blood Sample" ""
"0000436609" "00435138" "1" "04473" "04473" "2023-05-21 23:12:13" "" "" "SEQ-NG-I" "DNA" "Peripheral Blood Sample" ""
"0000436610" "00435139" "1" "04473" "04473" "2023-05-21 23:16:07" "" "" "SEQ-NG-I" "DNA" "Peripheral Blood Sample" ""
"0000436943" "00435464" "1" "00006" "00006" "2023-07-31 11:19:02" "" "" "SEQ-NG" "DNA" "" "trio WES"
"0000437212" "00435731" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437213" "00435732" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437214" "00435733" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437215" "00435734" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437216" "00435735" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437217" "00435736" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437218" "00435737" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437219" "00435738" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437220" "00435739" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437221" "00435740" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437222" "00435741" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437223" "00435742" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437224" "00435743" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437225" "00435744" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437226" "00435745" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437227" "00435746" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437228" "00435747" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437229" "00435748" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437230" "00435749" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437231" "00435750" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437232" "00435751" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437233" "00435752" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437234" "00435753" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437235" "00435754" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437236" "00435755" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437237" "00435756" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437238" "00435757" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437239" "00435758" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437240" "00435759" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437241" "00435760" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437242" "00435761" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437243" "00435762" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437244" "00435763" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437245" "00435764" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437246" "00435765" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437247" "00435766" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437248" "00435767" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437249" "00435768" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437250" "00435769" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437251" "00435770" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437252" "00435771" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437253" "00435772" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437254" "00435773" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437255" "00435774" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437256" "00435775" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437257" "00435776" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437258" "00435777" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437259" "00435778" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437260" "00435779" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437261" "00435780" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437262" "00435781" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437263" "00435782" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437264" "00435783" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437265" "00435784" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437266" "00435785" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437267" "00435786" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437268" "00435787" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437269" "00435788" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437270" "00435789" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437271" "00435790" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437272" "00435791" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437273" "00435792" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437274" "00435793" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437275" "00435794" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437276" "00435795" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437277" "00435796" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437278" "00435797" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437279" "00435798" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437280" "00435799" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437281" "00435800" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437282" "00435801" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437283" "00435802" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437284" "00435803" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437285" "00435804" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437286" "00435805" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437287" "00435806" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437288" "00435807" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437289" "00435808" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437290" "00435809" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437291" "00435810" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437292" "00435811" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437293" "00435812" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437294" "00435813" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437295" "00435814" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437296" "00435815" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437297" "00435816" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437298" "00435817" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437299" "00435818" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437300" "00435819" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437301" "00435820" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437302" "00435821" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437303" "00435822" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437304" "00435823" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437305" "00435824" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437306" "00435825" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437307" "00435826" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437308" "00435827" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437309" "00435828" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437310" "00435829" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437311" "00435830" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437312" "00435831" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437313" "00435832" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437314" "00435833" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437315" "00435834" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437316" "00435835" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437317" "00435836" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437318" "00435837" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437319" "00435838" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437320" "00435839" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437321" "00435840" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437322" "00435841" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437323" "00435842" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437324" "00435843" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437325" "00435844" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437326" "00435845" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437327" "00435846" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437328" "00435847" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437329" "00435848" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437330" "00435849" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437331" "00435850" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437332" "00435851" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437333" "00435852" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437334" "00435853" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437335" "00435854" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437336" "00435855" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437337" "00435856" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437338" "00435857" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437339" "00435858" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437340" "00435859" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437341" "00435860" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437342" "00435861" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437343" "00435862" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437344" "00435863" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437345" "00435864" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437346" "00435865" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437347" "00435866" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437348" "00435867" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437349" "00435868" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437350" "00435869" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437351" "00435870" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437352" "00435871" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437353" "00435872" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437354" "00435873" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437355" "00435874" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437356" "00435875" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437357" "00435876" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437358" "00435877" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437359" "00435878" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437360" "00435879" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437361" "00435880" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437362" "00435881" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437363" "00435882" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437364" "00435883" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437365" "00435884" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437366" "00435885" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437367" "00435886" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437368" "00435887" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437369" "00435888" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437370" "00435889" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437371" "00435890" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437372" "00435891" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437373" "00435892" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437374" "00435893" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437375" "00435894" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437376" "00435895" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437377" "00435896" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437378" "00435897" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437379" "00435898" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437380" "00435899" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437381" "00435900" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437382" "00435901" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437383" "00435902" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437384" "00435903" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437385" "00435904" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437386" "00435905" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437387" "00435906" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437388" "00435907" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437389" "00435908" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437390" "00435909" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437391" "00435910" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437392" "00435911" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437393" "00435912" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437394" "00435913" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437395" "00435914" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437396" "00435915" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437397" "00435916" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437398" "00435917" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437399" "00435918" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437400" "00435919" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437401" "00435920" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437402" "00435921" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437403" "00435922" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437404" "00435923" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437405" "00435924" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437406" "00435925" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437407" "00435926" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437408" "00435927" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437409" "00435928" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437410" "00435929" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437411" "00435930" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437412" "00435931" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437413" "00435932" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437414" "00435933" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437415" "00435934" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437416" "00435935" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437417" "00435936" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437418" "00435937" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437419" "00435938" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437420" "00435939" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437421" "00435940" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437422" "00435941" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437423" "00435942" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437424" "00435943" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437425" "00435944" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437426" "00435945" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437427" "00435946" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437428" "00435947" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437429" "00435948" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437430" "00435949" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437431" "00435950" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437432" "00435951" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437433" "00435952" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437434" "00435953" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437435" "00435954" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437436" "00435955" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437437" "00435956" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437438" "00435957" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437439" "00435958" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437440" "00435959" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437441" "00435960" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437442" "00435961" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437443" "00435962" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437444" "00435963" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437445" "00435964" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437446" "00435965" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437447" "00435966" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437448" "00435967" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437449" "00435968" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437450" "00435969" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437451" "00435970" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437452" "00435971" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437453" "00435972" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437454" "00435973" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437455" "00435974" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437456" "00435975" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437457" "00435976" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437458" "00435977" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437459" "00435978" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437460" "00435979" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437461" "00435980" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437462" "00435981" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437463" "00435982" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437464" "00435983" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437465" "00435984" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437466" "00435985" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437467" "00435986" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437468" "00435987" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437469" "00435988" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437470" "00435989" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437471" "00435990" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437472" "00435991" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437473" "00435992" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437474" "00435993" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437475" "00435994" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437476" "00435995" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437477" "00435996" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437478" "00435997" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437479" "00435998" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437480" "00435999" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437481" "00436000" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437482" "00436001" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437483" "00436002" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437484" "00436003" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437485" "00436004" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437486" "00436005" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437487" "00436006" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437488" "00436007" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437489" "00436008" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437490" "00436009" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437491" "00436010" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437492" "00436011" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437493" "00436012" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437494" "00436013" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437495" "00436014" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437496" "00436015" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437497" "00436016" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437498" "00436017" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437499" "00436018" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437500" "00436019" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437501" "00436020" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437502" "00436021" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437503" "00436022" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437504" "00436023" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437505" "00436024" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437506" "00436025" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437507" "00436026" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437508" "00436027" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437509" "00436028" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437510" "00436029" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437511" "00436030" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437512" "00436031" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437513" "00436032" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437514" "00436033" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437515" "00436034" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437516" "00436035" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437517" "00436036" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437518" "00436037" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437519" "00436038" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437520" "00436039" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437521" "00436040" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437522" "00436041" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437523" "00436042" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437524" "00436043" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437525" "00436044" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437526" "00436045" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437527" "00436046" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437528" "00436047" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437529" "00436048" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437530" "00436049" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437531" "00436050" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437532" "00436051" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437533" "00436052" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437534" "00436053" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437535" "00436054" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437536" "00436055" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437537" "00436056" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437538" "00436057" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437539" "00436058" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437540" "00436059" "1" "04536" "00006" "2023-08-10 10:10:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000437930" "00436446" "1" "04552" "04552" "2023-09-16 16:56:49" "" "" "SEQ-NG-I" "DNA" "BUCCAL SWAB" ""
"0000437949" "00436466" "1" "04552" "04552" "2023-09-17 05:23:13" "" "" "SEQ-NG-I" "DNA" "buccal swab" ""
"0000437950" "00436464" "1" "04552" "04552" "2023-09-17 05:26:49" "" "" "SEQ-NG-I" "DNA" "Blood" ""
"0000437951" "00436467" "1" "04552" "04552" "2023-09-17 05:33:57" "" "" "SEQ-NG-I" "DNA" "buccal swab" ""
"0000437952" "00436468" "1" "04552" "04552" "2023-09-17 05:42:23" "" "" "SEQ-NG-I" "DNA" "buccal swab" ""
"0000437953" "00436469" "1" "04552" "04552" "2023-09-17 05:51:25" "" "" "SEQ-NG-I" "DNA" "buccal swab" ""
"0000437954" "00436470" "1" "04552" "04552" "2023-09-17 05:58:06" "" "" "SEQ-NG-I" "DNA" "buccal swab" ""
"0000437955" "00436471" "1" "04552" "04552" "2023-09-17 06:02:35" "" "" "SEQ-NG-I" "DNA" "buccal swab" ""
"0000437957" "00436473" "1" "04552" "04552" "2023-09-17 06:12:58" "" "" "SEQ-NG-I" "DNA" "buccal swab" ""
"0000437959" "00436475" "1" "04552" "04552" "2023-09-17 06:31:20" "" "" "SEQ-NG-I" "DNA" "buccal swab" ""
"0000437960" "00436476" "1" "04552" "04552" "2023-09-17 06:37:59" "" "" "SEQ-NG-I" "DNA" "buccal swab" ""
"0000437961" "00436477" "1" "04552" "04552" "2023-09-17 06:42:34" "" "" "SEQ-NG-I" "DNA" "buccal swab" ""
"0000437962" "00436478" "1" "04552" "04552" "2023-09-17 06:47:05" "" "" "SEQ-NG-I" "DNA" "buccal swab" ""
"0000437963" "00436479" "1" "04552" "04552" "2023-09-17 06:52:13" "" "" "SEQ-NG-I" "DNA" "buccal swab" ""
"0000438096" "00436613" "1" "04552" "04552" "2023-09-23 07:01:39" "" "" "SEQ-NG-I" "DNA" "Buccal swab" ""
"0000438097" "00436614" "1" "04552" "04552" "2023-09-23 07:13:08" "" "" "SEQ-NG-I" "DNA" "Buccal swab" ""
"0000438162" "00436676" "1" "00006" "00006" "2023-09-29 18:42:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000438163" "00436677" "1" "00006" "00006" "2023-09-29 18:42:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000438164" "00436678" "1" "00006" "00006" "2023-09-29 18:42:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000438165" "00436679" "1" "00006" "00006" "2023-09-29 18:42:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000438166" "00436680" "1" "00006" "00006" "2023-09-29 18:42:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000438167" "00436681" "1" "00006" "00006" "2023-09-29 18:42:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000438168" "00436682" "1" "00006" "00006" "2023-09-29 18:42:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000438169" "00436683" "1" "00006" "00006" "2023-09-29 18:42:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000438170" "00436684" "1" "00006" "00006" "2023-09-29 18:42:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000438171" "00436685" "1" "00006" "00006" "2023-09-29 18:42:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000438172" "00436686" "1" "00006" "00006" "2023-09-29 18:42:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000438173" "00436687" "1" "00006" "00006" "2023-09-29 18:42:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000438174" "00436688" "1" "00006" "00006" "2023-09-29 18:42:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000438175" "00436689" "1" "00006" "00006" "2023-09-29 18:42:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000438176" "00436690" "1" "00006" "00006" "2023-09-29 18:42:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000438177" "00436691" "1" "00006" "00006" "2023-09-29 18:42:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000438178" "00436692" "1" "00006" "00006" "2023-09-29 18:42:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000438179" "00436693" "1" "00006" "00006" "2023-09-29 18:42:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000438180" "00436694" "1" "00006" "00006" "2023-09-29 18:42:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000438181" "00436695" "1" "00006" "00006" "2023-09-29 18:42:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000438182" "00436696" "1" "00006" "00006" "2023-09-29 18:42:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000438183" "00436697" "1" "00006" "00006" "2023-09-29 18:42:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000438184" "00436698" "1" "00006" "00006" "2023-09-29 18:42:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000438185" "00436699" "1" "00006" "00006" "2023-09-29 18:42:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000438186" "00436700" "1" "00006" "00006" "2023-09-29 18:42:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000438187" "00436701" "1" "00006" "00006" "2023-09-29 18:42:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000438188" "00436702" "1" "00006" "00006" "2023-09-29 18:42:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000438189" "00436703" "1" "00006" "00006" "2023-09-29 18:42:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000438190" "00436704" "1" "00006" "00006" "2023-09-29 18:42:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000438191" "00436705" "1" "00006" "00006" "2023-09-29 18:42:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000438192" "00436706" "1" "00006" "00006" "2023-09-29 18:42:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000438193" "00436707" "1" "00006" "00006" "2023-09-29 18:42:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000438194" "00436708" "1" "00006" "00006" "2023-09-29 18:42:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000438195" "00436709" "1" "00006" "00006" "2023-09-29 18:42:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000438196" "00436710" "1" "00006" "00006" "2023-09-29 18:42:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000438197" "00436711" "1" "00006" "00006" "2023-09-29 18:42:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000438198" "00436712" "1" "00006" "00006" "2023-09-29 18:42:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000438199" "00436713" "1" "00006" "00006" "2023-09-29 18:42:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000438200" "00436714" "1" "00006" "00006" "2023-09-29 18:42:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000438201" "00436715" "1" "00006" "00006" "2023-09-29 18:42:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000438202" "00436716" "1" "00006" "00006" "2023-09-29 18:42:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000438203" "00436717" "1" "00006" "00006" "2023-09-29 18:42:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000438204" "00436718" "1" "00006" "00006" "2023-09-29 18:42:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000438205" "00436719" "1" "00006" "00006" "2023-09-29 18:42:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000438206" "00436720" "1" "00006" "00006" "2023-09-29 18:42:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000438207" "00436721" "1" "00006" "00006" "2023-09-29 18:42:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000438208" "00436722" "1" "00006" "00006" "2023-09-29 18:42:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000438209" "00436723" "1" "00006" "00006" "2023-09-29 18:42:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000438210" "00436724" "1" "00006" "00006" "2023-09-29 18:42:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000438211" "00436725" "1" "00006" "00006" "2023-09-29 18:42:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000438212" "00436726" "1" "00006" "00006" "2023-09-29 18:42:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000438213" "00436727" "1" "00006" "00006" "2023-09-29 18:42:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000438214" "00436728" "1" "00006" "00006" "2023-09-29 18:42:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000438215" "00436729" "1" "00006" "00006" "2023-09-29 18:42:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000438216" "00436730" "1" "00006" "00006" "2023-09-29 18:42:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000438217" "00436731" "1" "00006" "00006" "2023-09-29 18:42:14" "" "" "MIPsm;SEQ-NG" "DNA" "" ""
"0000440467" "00438985" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440468" "00438986" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440469" "00438987" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440470" "00438988" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440471" "00438989" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440472" "00438990" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440473" "00438991" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440474" "00438992" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440475" "00438993" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440476" "00438994" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440477" "00438995" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440478" "00438996" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440479" "00438997" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ" "DNA" "" ""
"0000440480" "00438998" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440481" "00438999" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440482" "00439000" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440483" "00439001" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ" "DNA" "" ""
"0000440484" "00439002" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440485" "00439003" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440486" "00439004" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440487" "00439005" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440488" "00439006" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440489" "00439007" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440490" "00439008" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440491" "00439009" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG-I" "DNA" "" ""
"0000440492" "00439010" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440493" "00439011" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440494" "00439012" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440495" "00439013" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ" "DNA" "" ""
"0000440496" "00439014" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440497" "00439015" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440498" "00439016" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440499" "00439017" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ" "DNA" "" ""
"0000440500" "00439018" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ" "DNA" "" ""
"0000440501" "00439019" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440502" "00439020" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440503" "00439021" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440504" "00439022" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440505" "00439023" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440506" "00439024" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440507" "00439025" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440508" "00439026" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440509" "00439027" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440510" "00439028" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440511" "00439029" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440512" "00439030" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440513" "00439031" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440514" "00439032" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440515" "00439033" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440516" "00439034" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440517" "00439035" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440518" "00439036" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440519" "00439037" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440520" "00439038" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440521" "00439039" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440522" "00439040" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440523" "00439041" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440524" "00439042" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440525" "00439043" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440526" "00439044" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440527" "00439045" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440528" "00439046" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440529" "00439047" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440530" "00439048" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ" "DNA" "" ""
"0000440531" "00439049" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440532" "00439050" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440533" "00439051" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440534" "00439052" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440535" "00439053" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440536" "00439054" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440537" "00439055" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440538" "00439056" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440539" "00439057" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440540" "00439058" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440541" "00439059" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440542" "00439060" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440543" "00439061" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440544" "00439062" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440545" "00439063" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440546" "00439064" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440547" "00439065" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440548" "00439066" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440549" "00439067" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440550" "00439068" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440551" "00439069" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440552" "00439070" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440553" "00439071" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440554" "00439072" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440555" "00439073" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440556" "00439074" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440557" "00439075" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440558" "00439076" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440559" "00439077" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440560" "00439078" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440561" "00439079" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440562" "00439080" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440563" "00439081" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440564" "00439082" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ" "DNA" "" ""
"0000440565" "00439083" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440566" "00439084" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440567" "00439085" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ" "DNA" "" ""
"0000440568" "00439086" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440569" "00439087" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440570" "00439088" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440571" "00439089" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440572" "00439090" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440573" "00439091" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440574" "00439092" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440575" "00439093" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ" "DNA" "" ""
"0000440576" "00439094" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440577" "00439095" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440578" "00439096" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440579" "00439097" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440580" "00439098" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440581" "00439099" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440582" "00439100" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440583" "00439101" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ" "DNA" "" ""
"0000440584" "00439102" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ" "DNA" "" ""
"0000440585" "00439103" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG-I" "DNA" "" ""
"0000440586" "00439104" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440587" "00439105" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440588" "00439106" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440589" "00439107" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG-I" "DNA" "" ""
"0000440590" "00439108" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440591" "00439109" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440592" "00439110" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG-I" "DNA" "" ""
"0000440593" "00439111" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440594" "00439112" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440595" "00439113" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440596" "00439114" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ" "DNA" "" ""
"0000440597" "00439115" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440598" "00439116" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440599" "00439117" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ" "DNA" "" ""
"0000440600" "00439118" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440601" "00439119" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440602" "00439120" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440603" "00439121" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440604" "00439122" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440605" "00439123" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440606" "00439124" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440607" "00439125" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440608" "00439126" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440609" "00439127" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG-I" "DNA" "" ""
"0000440610" "00439128" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG-I" "DNA" "" ""
"0000440611" "00439129" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440612" "00439130" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440613" "00439131" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440614" "00439132" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440615" "00439133" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440616" "00439134" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440617" "00439135" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG-I" "DNA" "" ""
"0000440618" "00439136" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440619" "00439137" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440620" "00439138" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440621" "00439139" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440622" "00439140" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440623" "00439141" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440624" "00439142" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440625" "00439143" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440626" "00439144" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ" "DNA" "" ""
"0000440627" "00439145" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440628" "00439146" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440629" "00439147" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440630" "00439148" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440631" "00439149" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440632" "00439150" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440633" "00439151" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440634" "00439152" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440635" "00439153" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440636" "00439154" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440637" "00439155" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440638" "00439156" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ" "DNA" "" ""
"0000440639" "00439157" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440640" "00439158" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ" "DNA" "" ""
"0000440641" "00439159" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440642" "00439160" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440643" "00439161" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440644" "00439162" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440645" "00439163" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440646" "00439164" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440647" "00439165" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440648" "00439166" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440649" "00439167" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440650" "00439168" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ" "DNA" "" ""
"0000440651" "00439169" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440652" "00439170" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440653" "00439171" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440654" "00439172" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440655" "00439173" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440656" "00439174" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ" "DNA" "" ""
"0000440657" "00439175" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440658" "00439176" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440659" "00439177" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440660" "00439178" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440661" "00439179" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440662" "00439180" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440663" "00439181" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440664" "00439182" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440665" "00439183" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440666" "00439184" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440667" "00439185" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440668" "00439186" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440669" "00439187" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ" "DNA" "" ""
"0000440670" "00439188" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440671" "00439189" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440672" "00439190" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440673" "00439191" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ" "DNA" "" ""
"0000440674" "00439192" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440675" "00439193" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440676" "00439194" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440677" "00439195" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440678" "00439196" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440679" "00439197" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440680" "00439198" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440681" "00439199" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440682" "00439200" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440683" "00439201" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440684" "00439202" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440685" "00439203" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440686" "00439204" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440687" "00439205" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440688" "00439206" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ" "DNA" "" ""
"0000440689" "00439207" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440690" "00439208" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440691" "00439209" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440692" "00439210" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440693" "00439211" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440694" "00439212" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ" "DNA" "" ""
"0000440695" "00439213" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ" "DNA" "" ""
"0000440696" "00439214" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440697" "00439215" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440698" "00439216" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440699" "00439217" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440700" "00439218" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440701" "00439219" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440702" "00439220" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ" "DNA" "" ""
"0000440703" "00439221" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ" "DNA" "" ""
"0000440704" "00439222" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440705" "00439223" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440706" "00439224" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440707" "00439225" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440708" "00439226" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440709" "00439227" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440710" "00439228" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440711" "00439229" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440712" "00439230" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440713" "00439231" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440714" "00439232" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ" "DNA" "" ""
"0000440715" "00439233" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440716" "00439234" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440717" "00439235" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440718" "00439236" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440719" "00439237" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440720" "00439238" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ" "DNA" "" ""
"0000440721" "00439239" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440722" "00439240" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440723" "00439241" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440724" "00439242" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440725" "00439243" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440726" "00439244" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440727" "00439245" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440728" "00439246" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440729" "00439247" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440730" "00439248" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440731" "00439249" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ" "DNA" "" ""
"0000440732" "00439250" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440733" "00439251" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440734" "00439252" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG-I" "DNA" "" ""
"0000440735" "00439253" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440736" "00439254" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440737" "00439255" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440738" "00439256" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440739" "00439257" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440740" "00439258" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440741" "00439259" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ" "DNA" "" ""
"0000440742" "00439260" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440743" "00439261" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440744" "00439262" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440745" "00439263" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440746" "00439264" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440747" "00439265" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440748" "00439266" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440749" "00439267" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440750" "00439268" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440751" "00439269" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440752" "00439270" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440753" "00439271" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ" "DNA" "" ""
"0000440754" "00439272" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440755" "00439273" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440756" "00439274" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440757" "00439275" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440758" "00439276" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG-I" "DNA" "" ""
"0000440759" "00439277" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440760" "00439278" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440761" "00439279" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ" "DNA" "" ""
"0000440762" "00439280" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440763" "00439281" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440764" "00439282" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440765" "00439283" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440766" "00439284" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ" "DNA" "" ""
"0000440767" "00439285" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG-I" "DNA" "" ""
"0000440768" "00439286" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440769" "00439287" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440770" "00439288" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440771" "00439289" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ" "DNA" "" ""
"0000440772" "00439290" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440773" "00439291" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440774" "00439292" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440775" "00439293" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ" "DNA" "" ""
"0000440776" "00439294" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ" "DNA" "" ""
"0000440777" "00439295" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440778" "00439296" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440779" "00439297" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440780" "00439298" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440781" "00439299" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ" "DNA" "" ""
"0000440782" "00439300" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440783" "00439301" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440784" "00439302" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440785" "00439303" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440786" "00439304" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440787" "00439305" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440788" "00439306" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440789" "00439307" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440790" "00439308" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440791" "00439309" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ" "DNA" "" ""
"0000440792" "00439310" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ" "DNA" "" ""
"0000440793" "00439311" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440794" "00439312" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440795" "00439313" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440796" "00439314" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ" "DNA" "" ""
"0000440797" "00439315" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440798" "00439316" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440799" "00439317" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440800" "00439318" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ" "DNA" "" ""
"0000440801" "00439319" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440802" "00439320" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ" "DNA" "" ""
"0000440803" "00439321" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440804" "00439322" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ" "DNA" "" ""
"0000440805" "00439323" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440806" "00439324" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440807" "00439325" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440808" "00439326" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440809" "00439327" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440810" "00439328" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440811" "00439329" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ" "DNA" "" ""
"0000440812" "00439330" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440813" "00439331" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440814" "00439332" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440815" "00439333" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440816" "00439334" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440817" "00439335" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440818" "00439336" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440819" "00439337" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ" "DNA" "" ""
"0000440820" "00439338" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440821" "00439339" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ" "DNA" "" ""
"0000440822" "00439340" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440823" "00439341" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440824" "00439342" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440825" "00439343" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440826" "00439344" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440827" "00439345" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440828" "00439346" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440829" "00439347" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ" "DNA" "" ""
"0000440830" "00439348" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440831" "00439349" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440832" "00439350" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ" "DNA" "" ""
"0000440833" "00439351" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440834" "00439352" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440835" "00439353" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440836" "00439354" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440837" "00439355" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440838" "00439356" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440839" "00439357" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440840" "00439358" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG-I" "DNA" "" ""
"0000440841" "00439359" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440842" "00439360" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440843" "00439361" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG-I" "DNA" "" ""
"0000440844" "00439362" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440845" "00439363" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ" "DNA" "" ""
"0000440846" "00439364" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440847" "00439365" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440848" "00439366" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ" "DNA" "" ""
"0000440849" "00439367" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440850" "00439368" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440851" "00439369" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440852" "00439370" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440853" "00439371" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440854" "00439372" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440855" "00439373" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440856" "00439374" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440857" "00439375" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440858" "00439376" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG-I" "DNA" "" ""
"0000440859" "00439377" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440860" "00439378" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG-I" "DNA" "" ""
"0000440861" "00439379" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440862" "00439380" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440863" "00439381" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440864" "00439382" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440865" "00439383" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440866" "00439384" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440867" "00439385" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440868" "00439386" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440869" "00439387" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440870" "00439388" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440871" "00439389" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440872" "00439390" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440873" "00439391" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440874" "00439392" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG-I" "DNA" "" ""
"0000440875" "00439393" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG-I" "DNA" "" ""
"0000440876" "00439394" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440877" "00439395" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440878" "00439396" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440879" "00439397" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440880" "00439398" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG-I" "DNA" "" ""
"0000440881" "00439399" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG-I" "DNA" "" ""
"0000440882" "00439400" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ" "DNA" "" ""
"0000440883" "00439401" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440884" "00439402" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440885" "00439403" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440886" "00439404" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440887" "00439405" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440888" "00439406" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ" "DNA" "" ""
"0000440889" "00439407" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG-I" "DNA" "" ""
"0000440890" "00439408" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440891" "00439409" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440892" "00439410" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440893" "00439411" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ" "DNA" "" ""
"0000440894" "00439412" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440895" "00439413" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440896" "00439414" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440897" "00439415" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440898" "00439416" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440899" "00439417" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440900" "00439418" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ" "DNA" "" ""
"0000440901" "00439419" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440902" "00439420" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440903" "00439421" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG-I" "DNA" "" ""
"0000440904" "00439422" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG-I" "DNA" "" ""
"0000440905" "00439423" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440906" "00439424" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG-I" "DNA" "" ""
"0000440907" "00439425" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440908" "00439426" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440909" "00439427" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440910" "00439428" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440911" "00439429" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440912" "00439430" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440913" "00439431" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440914" "00439432" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440915" "00439433" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440916" "00439434" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440917" "00439435" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440918" "00439436" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440919" "00439437" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440920" "00439438" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440921" "00439439" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440922" "00439440" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440923" "00439441" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440924" "00439442" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440925" "00439443" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440926" "00439444" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440927" "00439445" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ" "DNA" "" ""
"0000440928" "00439446" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440929" "00439447" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG-I" "DNA" "" ""
"0000440930" "00439448" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG-I" "DNA" "" ""
"0000440931" "00439449" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440932" "00439450" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440933" "00439451" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440934" "00439452" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440935" "00439453" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG-I" "DNA" "" ""
"0000440936" "00439454" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440937" "00439455" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440938" "00439456" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440939" "00439457" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440940" "00439458" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440941" "00439459" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ" "DNA" "" ""
"0000440942" "00439460" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440943" "00439461" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ" "DNA" "" ""
"0000440944" "00439462" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440945" "00439463" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440946" "00439464" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440947" "00439465" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ" "DNA" "" ""
"0000440948" "00439466" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440949" "00439467" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440950" "00439468" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG-I" "DNA" "" ""
"0000440951" "00439469" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440952" "00439470" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440953" "00439471" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440954" "00439472" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440955" "00439473" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440956" "00439474" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440957" "00439475" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440958" "00439476" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440959" "00439477" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ" "DNA" "" ""
"0000440960" "00439478" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG-I" "DNA" "" ""
"0000440961" "00439479" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440962" "00439480" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440963" "00439481" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440964" "00439482" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ" "DNA" "" ""
"0000440965" "00439483" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ" "DNA" "" ""
"0000440966" "00439484" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440967" "00439485" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440968" "00439486" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440969" "00439487" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440970" "00439488" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440971" "00439489" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440972" "00439490" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440973" "00439491" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440974" "00439492" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440975" "00439493" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ" "DNA" "" ""
"0000440976" "00439494" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG-I" "DNA" "" ""
"0000440977" "00439495" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440978" "00439496" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440979" "00439497" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440980" "00439498" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG-I" "DNA" "" ""
"0000440981" "00439499" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440982" "00439500" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440983" "00439501" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440984" "00439502" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440985" "00439503" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440986" "00439504" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440987" "00439505" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440988" "00439506" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440989" "00439507" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440990" "00439508" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG-I" "DNA" "" ""
"0000440991" "00439509" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG-I" "DNA" "" ""
"0000440992" "00439510" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440993" "00439511" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000440994" "00439512" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG-I" "DNA" "" ""
"0000440995" "00439513" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG-I" "DNA" "" ""
"0000440996" "00439514" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ" "DNA" "" ""
"0000440997" "00439515" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG-I" "DNA" "" ""
"0000440998" "00439516" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG-I" "DNA" "" ""
"0000440999" "00439517" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG-I" "DNA" "" ""
"0000441000" "00439518" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000441001" "00439519" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG-I" "DNA" "" ""
"0000441002" "00439520" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG-I" "DNA" "" ""
"0000441003" "00439521" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG-I" "DNA" "" ""
"0000441004" "00439522" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG-I" "DNA" "" ""
"0000441005" "00439523" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG-I" "DNA" "" ""
"0000441006" "00439524" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG-I" "DNA" "" ""
"0000441007" "00439525" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG-I" "DNA" "" ""
"0000441008" "00439526" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG-I" "DNA" "" ""
"0000441009" "00439527" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG-I" "DNA" "" ""
"0000441010" "00439528" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ" "DNA" "" ""
"0000441011" "00439529" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ" "DNA" "" ""
"0000441012" "00439530" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG-I" "DNA" "" ""
"0000441013" "00439531" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG-I" "DNA" "" ""
"0000441014" "00439532" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ" "DNA" "" ""
"0000441015" "00439533" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG-I" "DNA" "" ""
"0000441016" "00439534" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG-I" "DNA" "" ""
"0000441017" "00439535" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG-I" "DNA" "" ""
"0000441018" "00439536" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG-I" "DNA" "" ""
"0000441019" "00439537" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000441020" "00439538" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG-I" "DNA" "" ""
"0000441021" "00439539" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000441022" "00439540" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG-I" "DNA" "" ""
"0000441023" "00439541" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG-I" "DNA" "" ""
"0000441024" "00439542" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000441025" "00439543" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG-I" "DNA" "" ""
"0000441026" "00439544" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG-I" "DNA" "" ""
"0000441027" "00439545" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG-I" "DNA" "" ""
"0000441028" "00439546" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG-I" "DNA" "" ""
"0000441029" "00439547" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000441030" "00439548" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG-I" "DNA" "" ""
"0000441031" "00439549" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000441032" "00439550" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG-I" "DNA" "" ""
"0000441033" "00439551" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG-I" "DNA" "" ""
"0000441034" "00439552" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG-I" "DNA" "" ""
"0000441035" "00439553" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG-I" "DNA" "" ""
"0000441036" "00439554" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG-I" "DNA" "" ""
"0000441037" "00439555" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ" "DNA" "" ""
"0000441038" "00439556" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000441039" "00439557" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG-I" "DNA" "" ""
"0000441040" "00439558" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG-I" "DNA" "" ""
"0000441041" "00439559" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG-I" "DNA" "" ""
"0000441042" "00439560" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ" "DNA" "" ""
"0000441043" "00439561" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000441044" "00439562" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG-I" "DNA" "" ""
"0000441045" "00439563" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG-I" "DNA" "" ""
"0000441046" "00439564" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ" "DNA" "" ""
"0000441047" "00439565" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG-I" "DNA" "" ""
"0000441048" "00439566" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG-I" "DNA" "" ""
"0000441049" "00439567" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG-I" "DNA" "" ""
"0000441050" "00439568" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ" "DNA" "" ""
"0000441051" "00439569" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG-I" "DNA" "" ""
"0000441052" "00439570" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG-I" "DNA" "" ""
"0000441053" "00439571" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ" "DNA" "" ""
"0000441054" "00439572" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000441055" "00439573" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000441056" "00439574" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG-I" "DNA" "" ""
"0000441057" "00439575" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG-I" "DNA" "" ""
"0000441058" "00439576" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG-I" "DNA" "" ""
"0000441059" "00439577" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG-I" "DNA" "" ""
"0000441060" "00439578" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000441061" "00439579" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG-I" "DNA" "" ""
"0000441062" "00439580" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG-I" "DNA" "" ""
"0000441063" "00439581" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG-I" "DNA" "" ""
"0000441064" "00439582" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG-I" "DNA" "" ""
"0000441065" "00439583" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ" "DNA" "" ""
"0000441066" "00439584" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000441067" "00439585" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG-I" "DNA" "" ""
"0000441068" "00439586" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG-I" "DNA" "" ""
"0000441069" "00439587" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000441070" "00439588" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ" "DNA" "" ""
"0000441071" "00439589" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG-I" "DNA" "" ""
"0000441072" "00439590" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ" "DNA" "" ""
"0000441073" "00439591" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000441074" "00439592" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG-I" "DNA" "" ""
"0000441075" "00439593" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000441076" "00439594" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ" "DNA" "" ""
"0000441077" "00439595" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG-I" "DNA" "" ""
"0000441078" "00439596" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ" "DNA" "" ""
"0000441079" "00439597" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000441080" "00439598" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000441081" "00439599" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ" "DNA" "" ""
"0000441082" "00439600" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000441083" "00439601" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000441084" "00439602" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000441085" "00439603" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000441086" "00439604" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000441087" "00439605" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000441088" "00439606" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000441089" "00439607" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000441090" "00439608" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000441091" "00439609" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ" "DNA" "" ""
"0000441092" "00439610" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000441093" "00439611" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000441094" "00439612" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000441095" "00439613" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000441096" "00439614" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000441097" "00439615" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000441098" "00439616" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000441099" "00439617" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000441100" "00439618" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000441101" "00439619" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000441102" "00439620" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000441103" "00439621" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ" "DNA" "" ""
"0000441104" "00439622" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000441105" "00439623" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000441106" "00439624" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000441107" "00439625" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000441108" "00439626" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ" "DNA" "" ""
"0000441109" "00439627" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000441110" "00439628" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SSCA;SEQ" "DNA" "" ""
"0000441111" "00439629" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SSCA;SEQ" "DNA" "" ""
"0000441112" "00439630" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SSCA;SEQ" "DNA" "" ""
"0000441113" "00439631" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SSCA;SEQ" "DNA" "" ""
"0000441114" "00439632" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SSCA;SEQ" "DNA" "" ""
"0000441115" "00439633" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SSCA;SEQ" "DNA" "" ""
"0000441116" "00439634" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SSCA;SEQ" "DNA" "" ""
"0000441117" "00439635" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SSCA;SEQ" "DNA" "" ""
"0000441118" "00439636" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SSCA;SEQ" "DNA" "" ""
"0000441119" "00439637" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SSCA;SEQ" "DNA" "" ""
"0000441120" "00439638" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SSCA;SEQ" "DNA" "" ""
"0000441121" "00439639" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SSCA;SEQ" "DNA" "" ""
"0000441122" "00439640" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SSCA;SEQ" "DNA" "" ""
"0000441123" "00439641" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SSCA;SEQ" "DNA" "" ""
"0000441124" "00439642" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SSCA;SEQ" "DNA" "" ""
"0000441125" "00439643" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SSCA;SEQ" "DNA" "" ""
"0000441126" "00439644" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SSCA;SEQ" "DNA" "" ""
"0000441127" "00439645" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SSCA;SEQ" "DNA" "" ""
"0000441128" "00439646" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SSCA;SEQ" "DNA" "" ""
"0000441129" "00439647" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SSCA;SEQ" "DNA" "" ""
"0000441130" "00439648" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SSCA;SEQ" "DNA" "" ""
"0000441131" "00439649" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;MLPA;SEQ" "DNA" "" ""
"0000441132" "00439650" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441133" "00439651" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441134" "00439652" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441135" "00439653" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441136" "00439654" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441137" "00439655" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441138" "00439656" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441139" "00439657" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441140" "00439658" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441141" "00439659" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441142" "00439660" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441143" "00439661" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441144" "00439662" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441145" "00439663" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441146" "00439664" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441147" "00439665" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441148" "00439666" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441149" "00439667" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441150" "00439668" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441151" "00439669" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441152" "00439670" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441153" "00439671" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441154" "00439672" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441155" "00439673" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441156" "00439674" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441157" "00439675" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441158" "00439676" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441159" "00439677" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441160" "00439678" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441161" "00439679" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441162" "00439680" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441163" "00439681" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441164" "00439682" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441165" "00439683" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441166" "00439684" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441167" "00439685" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441168" "00439686" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441169" "00439687" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441170" "00439688" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441171" "00439689" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441172" "00439690" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441173" "00439691" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441174" "00439692" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441175" "00439693" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441176" "00439694" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441177" "00439695" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441178" "00439696" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441179" "00439697" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441180" "00439698" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441181" "00439699" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441182" "00439700" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441183" "00439701" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441184" "00439702" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441185" "00439703" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441186" "00439704" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441187" "00439705" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441188" "00439706" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441189" "00439707" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441190" "00439708" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441191" "00439709" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441192" "00439710" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441193" "00439711" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441194" "00439712" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441195" "00439713" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441196" "00439714" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441197" "00439715" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441198" "00439716" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441199" "00439717" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441200" "00439718" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441201" "00439719" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441202" "00439720" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441203" "00439721" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441204" "00439722" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441205" "00439723" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441206" "00439724" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441207" "00439725" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441208" "00439726" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441209" "00439727" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441210" "00439728" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441211" "00439729" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441212" "00439730" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441213" "00439731" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441214" "00439732" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441215" "00439733" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441216" "00439734" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441217" "00439735" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441218" "00439736" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441219" "00439737" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441220" "00439738" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441221" "00439739" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441222" "00439740" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441223" "00439741" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441224" "00439742" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441225" "00439743" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441226" "00439744" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441227" "00439745" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441228" "00439746" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441229" "00439747" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441230" "00439748" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441231" "00439749" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441232" "00439750" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441233" "00439751" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441234" "00439752" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441235" "00439753" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441236" "00439754" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441237" "00439755" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441238" "00439756" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441239" "00439757" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441240" "00439758" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441241" "00439759" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441242" "00439760" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441243" "00439761" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441244" "00439762" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;MLPA;SEQ" "DNA" "" ""
"0000441245" "00439763" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441246" "00439764" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441247" "00439765" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441248" "00439766" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441249" "00439767" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441250" "00439768" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441251" "00439769" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441252" "00439770" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441253" "00439771" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441254" "00439772" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441255" "00439773" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441256" "00439774" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441257" "00439775" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441258" "00439776" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441259" "00439777" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441260" "00439778" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441261" "00439779" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441262" "00439780" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441263" "00439781" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441264" "00439782" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441265" "00439783" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441266" "00439784" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441267" "00439785" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441268" "00439786" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441269" "00439787" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441270" "00439788" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441271" "00439789" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441272" "00439790" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441273" "00439791" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441274" "00439792" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441275" "00439793" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441276" "00439794" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441277" "00439795" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441278" "00439796" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441279" "00439797" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441280" "00439798" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441281" "00439799" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441282" "00439800" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441283" "00439801" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441284" "00439802" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441285" "00439803" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441286" "00439804" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441287" "00439805" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441288" "00439806" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441289" "00439807" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441290" "00439808" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441291" "00439809" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441292" "00439810" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441293" "00439811" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441294" "00439812" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441295" "00439813" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441296" "00439814" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441297" "00439815" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441298" "00439816" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441299" "00439817" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441300" "00439818" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441301" "00439819" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441302" "00439820" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441303" "00439821" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441304" "00439822" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441305" "00439823" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441306" "00439824" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441307" "00439825" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441308" "00439826" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441309" "00439827" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441310" "00439828" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441311" "00439829" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441312" "00439830" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441313" "00439831" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441314" "00439832" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441315" "00439833" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441316" "00439834" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441317" "00439835" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441318" "00439836" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441319" "00439837" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441320" "00439838" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441321" "00439839" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441322" "00439840" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441323" "00439841" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441324" "00439842" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441325" "00439843" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441326" "00439844" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441327" "00439845" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441328" "00439846" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441329" "00439847" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441330" "00439848" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441331" "00439849" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441332" "00439850" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441333" "00439851" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441334" "00439852" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441335" "00439853" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441336" "00439854" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441337" "00439855" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441338" "00439856" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441339" "00439857" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441340" "00439858" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441341" "00439859" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "MCA;SEQ" "DNA" "" ""
"0000441342" "00439860" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "MCA;SEQ" "DNA" "" ""
"0000441343" "00439861" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "MCA;SEQ" "DNA" "" ""
"0000441344" "00439862" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "MCA;SEQ" "DNA" "" ""
"0000441345" "00439863" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "MCA;SEQ" "DNA" "" ""
"0000441346" "00439864" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "MCA;SEQ" "DNA" "" ""
"0000441347" "00439865" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "MCA;SEQ" "DNA" "" ""
"0000441348" "00439866" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "MCA;SEQ" "DNA" "" ""
"0000441349" "00439867" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "MCA;SEQ" "DNA" "" ""
"0000441350" "00439868" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "MCA;SEQ" "DNA" "" ""
"0000441351" "00439869" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "MCA;SEQ" "DNA" "" ""
"0000441352" "00439870" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "MCA;SEQ" "DNA" "" ""
"0000441353" "00439871" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "MCA;SEQ" "DNA" "" ""
"0000441354" "00439872" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "MCA;SEQ" "DNA" "" ""
"0000441355" "00439873" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ" "DNA" "" ""
"0000441356" "00439874" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "MCA;SEQ" "DNA" "" ""
"0000441357" "00439875" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000441358" "00439876" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "MCA;SEQ" "DNA" "" ""
"0000441359" "00439877" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "MCA;SEQ" "DNA" "" ""
"0000441360" "00439878" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "MCA;SEQ" "DNA" "" ""
"0000441361" "00439879" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "MCA;SEQ" "DNA" "" ""
"0000441362" "00439880" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "MCA;SEQ" "DNA" "" ""
"0000441363" "00439881" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "MCA;SEQ" "DNA" "" ""
"0000441364" "00439882" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "MCA;SEQ" "DNA" "" ""
"0000441365" "00439883" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "MCA;SEQ" "DNA" "" ""
"0000441366" "00439884" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "MCA;SEQ" "DNA" "" ""
"0000441367" "00439885" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "MCA;SEQ" "DNA" "" ""
"0000441368" "00439886" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "MCA;SEQ" "DNA" "" ""
"0000441369" "00439887" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "MCA;SEQ" "DNA" "" ""
"0000441370" "00439888" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "MCA;SEQ" "DNA" "" ""
"0000441371" "00439889" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "MCA;SEQ" "DNA" "" ""
"0000441372" "00439890" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "MCA;SEQ" "DNA" "" ""
"0000441373" "00439891" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "MCA;SEQ" "DNA" "" ""
"0000441374" "00439892" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "MCA;SEQ" "DNA" "" ""
"0000441375" "00439893" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "MCA;SEQ" "DNA" "" ""
"0000441376" "00439894" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "MCA;SEQ" "DNA" "" ""
"0000441377" "00439895" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "MCA;SEQ" "DNA" "" ""
"0000441378" "00439896" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "MCA;SEQ" "DNA" "" ""
"0000441379" "00439897" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "MCA;SEQ" "DNA" "" ""
"0000441380" "00439898" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "MCA;SEQ" "DNA" "" ""
"0000441381" "00439899" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "MCA;SEQ" "DNA" "" ""
"0000441382" "00439900" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "MCA;SEQ" "DNA" "" ""
"0000441383" "00439901" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "MCA;SEQ" "DNA" "" ""
"0000441384" "00439902" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "MCA;SEQ" "DNA" "" ""
"0000441385" "00439903" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "MCA;SEQ" "DNA" "" ""
"0000441386" "00439904" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "MCA;SEQ" "DNA" "" ""
"0000441387" "00439905" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "MCA;SEQ" "DNA" "" ""
"0000441388" "00439906" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "MCA;SEQ" "DNA" "" ""
"0000441389" "00439907" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "MCA;SEQ" "DNA" "" ""
"0000441390" "00439908" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "MCA;SEQ" "DNA" "" ""
"0000441391" "00439909" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "MCA;SEQ" "DNA" "" ""
"0000441392" "00439910" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "MCA;SEQ" "DNA" "" ""
"0000441393" "00439911" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "MCA;SEQ" "DNA" "" ""
"0000441394" "00439912" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "MCA;SEQ" "DNA" "" ""
"0000441395" "00439913" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "MCA;SEQ" "DNA" "" ""
"0000441396" "00439914" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "MCA;SEQ" "DNA" "" ""
"0000441397" "00439915" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "MCA;SEQ" "DNA" "" ""
"0000441398" "00439916" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "MCA;SEQ" "DNA" "" ""
"0000441399" "00439917" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "MCA;SEQ" "DNA" "" ""
"0000441400" "00439918" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "MCA;SEQ" "DNA" "" ""
"0000441401" "00439919" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ;MLPA" "DNA" "" ""
"0000441402" "00439920" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ" "DNA" "" ""
"0000441403" "00439921" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ" "DNA" "" ""
"0000441404" "00439922" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ" "DNA" "" ""
"0000441405" "00439923" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ" "DNA" "" ""
"0000441406" "00439924" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ" "DNA" "" ""
"0000441407" "00439925" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ" "DNA" "" ""
"0000441408" "00439926" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ" "DNA" "" ""
"0000441409" "00439927" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ" "DNA" "" ""
"0000441410" "00439928" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ" "DNA" "" ""
"0000441411" "00439929" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ" "DNA" "" ""
"0000441412" "00439930" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ" "DNA" "" ""
"0000441413" "00439931" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ" "DNA" "" ""
"0000441414" "00439932" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ" "DNA" "" ""
"0000441415" "00439933" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ" "DNA" "" ""
"0000441416" "00439934" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ" "DNA" "" ""
"0000441417" "00439935" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ" "DNA" "" ""
"0000441418" "00439936" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ" "DNA" "" ""
"0000441419" "00439937" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ" "DNA" "" ""
"0000441420" "00439938" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ" "DNA" "" ""
"0000441421" "00439939" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ" "DNA" "" ""
"0000441422" "00439940" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ" "DNA" "" ""
"0000441423" "00439941" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ" "DNA" "" ""
"0000441424" "00439942" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ" "DNA" "" ""
"0000441425" "00439943" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ" "DNA" "" ""
"0000441426" "00439944" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ" "DNA" "" ""
"0000441427" "00439945" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000441428" "00439946" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000441429" "00439947" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ" "DNA" "" ""
"0000441430" "00439948" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000441431" "00439949" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000441432" "00439950" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000441433" "00439951" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000441434" "00439952" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000441435" "00439953" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000441436" "00439954" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000441437" "00439955" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000441438" "00439956" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000441439" "00439957" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000441440" "00439958" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000441441" "00439959" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000441442" "00439960" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000441443" "00439961" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000441444" "00439962" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000441445" "00439963" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000441446" "00439964" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000441447" "00439965" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000441448" "00439966" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000441449" "00439967" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000441450" "00439968" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000441451" "00439969" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000441452" "00439970" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000441453" "00439971" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000441454" "00439972" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000441455" "00439973" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000441456" "00439974" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000441457" "00439975" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000441458" "00439976" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000441459" "00439977" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000441460" "00439978" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000441461" "00439979" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000441462" "00439980" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000441463" "00439981" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000441464" "00439982" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000441465" "00439983" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000441466" "00439984" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000441467" "00439985" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000441468" "00439986" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000441469" "00439987" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000441470" "00439988" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000441471" "00439989" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000441472" "00439990" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000441473" "00439991" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000441474" "00439992" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000441475" "00439993" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000441476" "00439994" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000441477" "00439995" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000441478" "00439996" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000441479" "00439997" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000441480" "00439998" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000441481" "00439999" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000441482" "00440000" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000441483" "00440001" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000441484" "00440002" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000441485" "00440003" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000441486" "00440004" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000441487" "00440005" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000441488" "00440006" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000441489" "00440007" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000441490" "00440008" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000441491" "00440009" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000441492" "00440010" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000441493" "00440011" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000441494" "00440012" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000441495" "00440013" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000441496" "00440014" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000441497" "00440015" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000441498" "00440016" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000441499" "00440017" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000441500" "00440018" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000441501" "00440019" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000441502" "00440020" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000441503" "00440021" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000441504" "00440022" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000441505" "00440023" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000441506" "00440024" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000441507" "00440025" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000441508" "00440026" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000441509" "00440027" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000441510" "00440028" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000441511" "00440029" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000441512" "00440030" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000441513" "00440031" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000441514" "00440032" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000441515" "00440033" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000441516" "00440034" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000441517" "00440035" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000441518" "00440036" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000441519" "00440037" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000441520" "00440038" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000441521" "00440039" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000441522" "00440040" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000441523" "00440041" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000441524" "00440042" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000441525" "00440043" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000441526" "00440044" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000441527" "00440045" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000441528" "00440046" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000441529" "00440047" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000441530" "00440048" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000441531" "00440049" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000441532" "00440050" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000441533" "00440051" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000441534" "00440052" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000441535" "00440053" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000441536" "00440054" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000441537" "00440055" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000441538" "00440056" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000441539" "00440057" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000441540" "00440058" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000441541" "00440059" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000441542" "00440060" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000441543" "00440061" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000441544" "00440062" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000441545" "00440063" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000441546" "00440064" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000441547" "00440065" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000441548" "00440066" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000441549" "00440067" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000441550" "00440068" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000441551" "00440069" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000441552" "00440070" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000441553" "00440071" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000441554" "00440072" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000441555" "00440073" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000441556" "00440074" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000441557" "00440075" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000441558" "00440076" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000441559" "00440077" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000441560" "00440078" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000441561" "00440079" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000441562" "00440080" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ-NG" "DNA" "" ""
"0000441563" "00440081" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SSCA;SEQ" "DNA" "" ""
"0000441564" "00440082" "1" "01251" "00006" "2023-04-20 09:38:00" "" "" "SEQ" "DNA" "" ""
"0000443279" "00441793" "1" "04594" "04594" "2023-11-12 19:11:48" "" "" "SEQ-NG" "DNA" "" ""
"0000443281" "00441795" "1" "04594" "04594" "2023-11-12 20:18:29" "" "" "SEQ-NG" "DNA" "" ""
"0000443409" "00441924" "1" "04594" "04594" "2023-11-15 12:55:00" "" "" "SEQ-NG" "DNA" "" ""
"0000443410" "00441925" "1" "04594" "04594" "2023-11-15 13:21:48" "" "" "SEQ-NG" "DNA" "" ""
"0000443411" "00441926" "1" "04594" "04594" "2023-11-15 13:30:54" "" "" "SEQ-NG" "DNA" "" ""
"0000443412" "00441927" "1" "04594" "04594" "2023-11-15 13:36:00" "" "" "SEQ-NG" "DNA" "" ""
"0000443413" "00441928" "1" "04594" "04594" "2023-11-15 13:51:00" "" "" "SEQ-NG" "DNA" "" ""
"0000445824" "00444250" "1" "00006" "00006" "2023-12-21 19:04:03" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel"
"0000447022" "00445448" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447023" "00445449" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447024" "00445450" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447025" "00445451" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447026" "00445452" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447027" "00445453" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447028" "00445454" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447029" "00445455" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447030" "00445456" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447031" "00445457" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447032" "00445458" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447033" "00445459" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447034" "00445460" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447035" "00445461" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447036" "00445462" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447037" "00445463" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447038" "00445464" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447039" "00445465" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447040" "00445466" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447041" "00445467" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447042" "00445468" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447043" "00445469" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447044" "00445470" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447045" "00445471" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447046" "00445472" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447047" "00445473" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447048" "00445474" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447049" "00445475" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447050" "00445476" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447051" "00445477" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447052" "00445478" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447053" "00445479" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447054" "00445480" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447055" "00445481" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447056" "00445482" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447057" "00445483" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447058" "00445484" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447059" "00445485" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447060" "00445486" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447061" "00445487" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447062" "00445488" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447063" "00445489" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447064" "00445490" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447065" "00445491" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447066" "00445492" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447067" "00445493" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447068" "00445494" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447069" "00445495" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447070" "00445496" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447071" "00445497" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447072" "00445498" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447073" "00445499" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447074" "00445500" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447075" "00445501" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447076" "00445502" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447077" "00445503" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447078" "00445504" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447079" "00445505" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447080" "00445506" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447081" "00445507" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447082" "00445508" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447083" "00445509" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447084" "00445510" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447085" "00445511" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447086" "00445512" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447087" "00445513" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447088" "00445514" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447089" "00445515" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447090" "00445516" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447091" "00445517" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447092" "00445518" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447093" "00445519" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447094" "00445520" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447095" "00445521" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447096" "00445522" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447097" "00445523" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447098" "00445524" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447099" "00445525" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447100" "00445526" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447101" "00445527" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447102" "00445528" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447103" "00445529" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447104" "00445530" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447105" "00445531" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447106" "00445532" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447107" "00445533" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447108" "00445534" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447109" "00445535" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447110" "00445536" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447111" "00445537" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447112" "00445538" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447113" "00445539" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447114" "00445540" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447115" "00445541" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447116" "00445542" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447117" "00445543" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447118" "00445544" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447119" "00445545" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447120" "00445546" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447121" "00445547" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447122" "00445548" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447123" "00445549" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447124" "00445550" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447125" "00445551" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447126" "00445552" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447127" "00445553" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447128" "00445554" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447129" "00445555" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447130" "00445556" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447131" "00445557" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447132" "00445558" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447133" "00445559" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447134" "00445560" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447135" "00445561" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447136" "00445562" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447137" "00445563" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447138" "00445564" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447139" "00445565" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447140" "00445566" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447141" "00445567" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447142" "00445568" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447143" "00445569" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447144" "00445570" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447145" "00445571" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447146" "00445572" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447147" "00445573" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447148" "00445574" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447149" "00445575" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447150" "00445576" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447151" "00445577" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447152" "00445578" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447153" "00445579" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447154" "00445580" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447155" "00445581" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447156" "00445582" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447157" "00445583" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447158" "00445584" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447159" "00445585" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447160" "00445586" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447161" "00445587" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447162" "00445588" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447163" "00445589" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447164" "00445590" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447165" "00445591" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447166" "00445592" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447167" "00445593" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447168" "00445594" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447169" "00445595" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447170" "00445596" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447171" "00445597" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447172" "00445598" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447173" "00445599" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447174" "00445600" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447175" "00445601" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447176" "00445602" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447177" "00445603" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447178" "00445604" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447179" "00445605" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447180" "00445606" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447181" "00445607" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447182" "00445608" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447183" "00445609" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447184" "00445610" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447185" "00445611" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447186" "00445612" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447187" "00445613" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447188" "00445614" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447189" "00445615" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447190" "00445616" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447191" "00445617" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447192" "00445618" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447193" "00445619" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447194" "00445620" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447195" "00445621" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447196" "00445622" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447197" "00445623" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447198" "00445624" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447199" "00445625" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447200" "00445626" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447201" "00445627" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447202" "00445628" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447203" "00445629" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447204" "00445630" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447205" "00445631" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447206" "00445632" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447207" "00445633" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447208" "00445634" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447209" "00445635" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447210" "00445636" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447211" "00445637" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447212" "00445638" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447213" "00445639" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447214" "00445640" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447215" "00445641" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447216" "00445642" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447217" "00445643" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447218" "00445644" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447219" "00445645" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447220" "00445646" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447221" "00445647" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447222" "00445648" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447223" "00445649" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447224" "00445650" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447225" "00445651" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447226" "00445652" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447227" "00445653" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447228" "00445654" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447229" "00445655" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447230" "00445656" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447231" "00445657" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447232" "00445658" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447233" "00445659" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447234" "00445660" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447235" "00445661" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447236" "00445662" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447237" "00445663" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447238" "00445664" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447239" "00445665" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447240" "00445666" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447241" "00445667" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447242" "00445668" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447243" "00445669" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447244" "00445670" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447245" "00445671" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447246" "00445672" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447247" "00445673" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447248" "00445674" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447249" "00445675" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447250" "00445676" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447251" "00445677" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447252" "00445678" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447253" "00445679" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447254" "00445680" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447255" "00445681" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447256" "00445682" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
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"0000447260" "00445686" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
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"0000447262" "00445688" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447263" "00445689" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447264" "00445690" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447265" "00445691" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
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"0000447269" "00445695" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
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"0000447280" "00445706" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447281" "00445707" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447282" "00445708" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
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"0000447290" "00445716" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447291" "00445717" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
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"0000447293" "00445719" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447294" "00445720" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447295" "00445721" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447296" "00445722" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447297" "00445723" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447298" "00445724" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447299" "00445725" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447300" "00445726" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447301" "00445727" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447302" "00445728" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447303" "00445729" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447304" "00445730" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447305" "00445731" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447306" "00445732" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447307" "00445733" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447308" "00445734" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447309" "00445735" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447310" "00445736" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447311" "00445737" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447312" "00445738" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447313" "00445739" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447314" "00445740" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447315" "00445741" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447316" "00445742" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447317" "00445743" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447318" "00445744" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447319" "00445745" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447320" "00445746" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447321" "00445747" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447322" "00445748" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447323" "00445749" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447324" "00445750" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447325" "00445751" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447326" "00445752" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447327" "00445753" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447328" "00445754" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447329" "00445755" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447330" "00445756" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447331" "00445757" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447332" "00445758" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447333" "00445759" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447334" "00445760" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447335" "00445761" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447336" "00445762" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447337" "00445763" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447338" "00445764" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447339" "00445765" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447340" "00445766" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447341" "00445767" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447342" "00445768" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447343" "00445769" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447344" "00445770" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447345" "00445771" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447346" "00445772" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447347" "00445773" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447348" "00445774" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447349" "00445775" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447350" "00445776" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447351" "00445777" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447352" "00445778" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447353" "00445779" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447354" "00445780" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447355" "00445781" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447356" "00445782" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447357" "00445783" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447358" "00445784" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447359" "00445785" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447360" "00445786" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447361" "00445787" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447362" "00445788" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447363" "00445789" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447364" "00445790" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447365" "00445791" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447366" "00445792" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447367" "00445793" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447368" "00445794" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447369" "00445795" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447370" "00445796" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447371" "00445797" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447372" "00445798" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447373" "00445799" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447374" "00445800" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447375" "00445801" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447376" "00445802" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447377" "00445803" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447378" "00445804" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447379" "00445805" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447380" "00445806" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447381" "00445807" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447382" "00445808" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447383" "00445809" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447384" "00445810" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447385" "00445811" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447386" "00445812" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447387" "00445813" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447388" "00445814" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447389" "00445815" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447390" "00445816" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447391" "00445817" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447392" "00445818" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447393" "00445819" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447394" "00445820" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447395" "00445821" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447396" "00445822" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447397" "00445823" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447398" "00445824" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447399" "00445825" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447400" "00445826" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447401" "00445827" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447402" "00445828" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447403" "00445829" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447404" "00445830" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447405" "00445831" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447406" "00445832" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447407" "00445833" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447408" "00445834" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447409" "00445835" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447410" "00445836" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447411" "00445837" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447412" "00445838" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447413" "00445839" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447414" "00445840" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447415" "00445841" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447416" "00445842" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447417" "00445843" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447418" "00445844" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447419" "00445845" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447420" "00445846" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447421" "00445847" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447422" "00445848" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447423" "00445849" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447424" "00445850" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447425" "00445851" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447426" "00445852" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447427" "00445853" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447428" "00445854" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447429" "00445855" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
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"0000447534" "00445960" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447535" "00445961" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447536" "00445962" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447537" "00445963" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447538" "00445964" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447539" "00445965" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447540" "00445966" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447541" "00445967" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447542" "00445968" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447543" "00445969" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447544" "00445970" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447545" "00445971" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447546" "00445972" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447547" "00445973" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447548" "00445974" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447549" "00445975" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447550" "00445976" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447551" "00445977" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447552" "00445978" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447553" "00445979" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447554" "00445980" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447555" "00445981" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447556" "00445982" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447557" "00445983" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447558" "00445984" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447559" "00445985" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447560" "00445986" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447561" "00445987" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447562" "00445988" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447563" "00445989" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447564" "00445990" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447565" "00445991" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447566" "00445992" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447567" "00445993" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447568" "00445994" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447569" "00445995" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447570" "00445996" "1" "01695" "00006" "2023-12-01 09:48:00" "" "" "SEQ" "DNA" "" ""
"0000447571" "00445997" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447572" "00445998" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447573" "00445999" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447574" "00446000" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447575" "00446001" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447576" "00446002" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447577" "00446003" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447578" "00446004" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447579" "00446005" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447580" "00446006" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447581" "00446007" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447582" "00446008" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447583" "00446009" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447584" "00446010" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447585" "00446011" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447586" "00446012" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447587" "00446013" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447588" "00446014" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447589" "00446015" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447590" "00446016" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447591" "00446017" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447592" "00446018" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447593" "00446019" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447594" "00446020" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447595" "00446021" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447596" "00446022" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447597" "00446023" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447598" "00446024" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447599" "00446025" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447600" "00446026" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447601" "00446027" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447602" "00446028" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447603" "00446029" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447604" "00446030" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447605" "00446031" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447606" "00446032" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447607" "00446033" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447608" "00446034" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447609" "00446035" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447610" "00446036" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447611" "00446037" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447612" "00446038" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447613" "00446039" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447614" "00446040" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447615" "00446041" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447616" "00446042" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447617" "00446043" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447618" "00446044" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447619" "00446045" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447620" "00446046" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447621" "00446047" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447622" "00446048" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447623" "00446049" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447624" "00446050" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447625" "00446051" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447626" "00446052" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447627" "00446053" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447628" "00446054" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447629" "00446055" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447630" "00446056" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447631" "00446057" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447632" "00446058" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447633" "00446059" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447634" "00446060" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447635" "00446061" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447636" "00446062" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447637" "00446063" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447638" "00446064" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447639" "00446065" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447640" "00446066" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447641" "00446067" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447642" "00446068" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447643" "00446069" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447644" "00446070" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447645" "00446071" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447646" "00446072" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447647" "00446073" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447648" "00446074" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447649" "00446075" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447650" "00446076" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447651" "00446077" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447652" "00446078" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447653" "00446079" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447654" "00446080" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447655" "00446081" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447656" "00446082" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447657" "00446083" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447658" "00446084" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447659" "00446085" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447660" "00446086" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447661" "00446087" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447662" "00446088" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447663" "00446089" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447664" "00446090" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447665" "00446091" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447666" "00446092" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447667" "00446093" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447668" "00446094" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447669" "00446095" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447670" "00446096" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447671" "00446097" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447672" "00446098" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447673" "00446099" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447674" "00446100" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447675" "00446101" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447676" "00446102" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447677" "00446103" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447678" "00446104" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447679" "00446105" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447680" "00446106" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447681" "00446107" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447682" "00446108" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447683" "00446109" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447684" "00446110" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447685" "00446111" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447686" "00446112" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447687" "00446113" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447688" "00446114" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447689" "00446115" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447690" "00446116" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447691" "00446117" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447692" "00446118" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447693" "00446119" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447694" "00446120" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447695" "00446121" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447696" "00446122" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447697" "00446123" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447698" "00446124" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447699" "00446125" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447700" "00446126" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447701" "00446127" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447702" "00446128" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447703" "00446129" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447704" "00446130" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447705" "00446131" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447706" "00446132" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447707" "00446133" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447708" "00446134" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447709" "00446135" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447710" "00446136" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447711" "00446137" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447712" "00446138" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447713" "00446139" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447714" "00446140" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447715" "00446141" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447716" "00446142" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447717" "00446143" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447718" "00446144" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447719" "00446145" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447720" "00446146" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447721" "00446147" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447722" "00446148" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447723" "00446149" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447724" "00446150" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447725" "00446151" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447726" "00446152" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447727" "00446153" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447728" "00446154" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447729" "00446155" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447730" "00446156" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447731" "00446157" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447732" "00446158" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447733" "00446159" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447734" "00446160" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447735" "00446161" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447736" "00446162" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447737" "00446163" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447738" "00446164" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447739" "00446165" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447740" "00446166" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447741" "00446167" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447742" "00446168" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447743" "00446169" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447744" "00446170" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447745" "00446171" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447746" "00446172" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447747" "00446173" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447748" "00446174" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447749" "00446175" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447750" "00446176" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447751" "00446177" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447752" "00446178" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447753" "00446179" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447754" "00446180" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447755" "00446181" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447756" "00446182" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447757" "00446183" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447758" "00446184" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447759" "00446185" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447760" "00446186" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447761" "00446187" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447762" "00446188" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447763" "00446189" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447764" "00446190" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447765" "00446191" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447766" "00446192" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447767" "00446193" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447768" "00446194" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447769" "00446195" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447770" "00446196" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447771" "00446197" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447772" "00446198" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447773" "00446199" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447774" "00446200" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447775" "00446201" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447776" "00446202" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447777" "00446203" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447778" "00446204" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447779" "00446205" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447780" "00446206" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447781" "00446207" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447782" "00446208" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447783" "00446209" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447784" "00446210" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447785" "00446211" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447786" "00446212" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447787" "00446213" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447788" "00446214" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447789" "00446215" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447790" "00446216" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447791" "00446217" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447792" "00446218" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447793" "00446219" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447794" "00446220" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447795" "00446221" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447796" "00446222" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447797" "00446223" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447798" "00446224" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447799" "00446225" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447800" "00446226" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447801" "00446227" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447802" "00446228" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447803" "00446229" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447804" "00446230" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447805" "00446231" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447806" "00446232" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447807" "00446233" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447808" "00446234" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447809" "00446235" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447810" "00446236" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447811" "00446237" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447812" "00446238" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447813" "00446239" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447814" "00446240" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447815" "00446241" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447816" "00446242" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447817" "00446243" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447818" "00446244" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447819" "00446245" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447820" "00446246" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447821" "00446247" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447822" "00446248" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447823" "00446249" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447824" "00446250" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447825" "00446251" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447826" "00446252" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447827" "00446253" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447828" "00446254" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447829" "00446255" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447830" "00446256" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447831" "00446257" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447832" "00446258" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447833" "00446259" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447834" "00446260" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447835" "00446261" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447836" "00446262" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447837" "00446263" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447838" "00446264" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447839" "00446265" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447840" "00446266" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447841" "00446267" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447842" "00446268" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447843" "00446269" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447844" "00446270" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447845" "00446271" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447846" "00446272" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447847" "00446273" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447848" "00446274" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447849" "00446275" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447850" "00446276" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447851" "00446277" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447852" "00446278" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447853" "00446279" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447854" "00446280" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447855" "00446281" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447856" "00446282" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447857" "00446283" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447858" "00446284" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447859" "00446285" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447860" "00446286" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447861" "00446287" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447862" "00446288" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447863" "00446289" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447864" "00446290" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447865" "00446291" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447866" "00446292" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447867" "00446293" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447868" "00446294" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447869" "00446295" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447870" "00446296" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447871" "00446297" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447872" "00446298" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447873" "00446299" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447874" "00446300" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447875" "00446301" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447876" "00446302" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447877" "00446303" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447878" "00446304" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447879" "00446305" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447880" "00446306" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447881" "00446307" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447882" "00446308" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447883" "00446309" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447884" "00446310" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447885" "00446311" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447886" "00446312" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447887" "00446313" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447888" "00446314" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447889" "00446315" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447890" "00446316" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447891" "00446317" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447892" "00446318" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447893" "00446319" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447894" "00446320" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447895" "00446321" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447896" "00446322" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447897" "00446323" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447898" "00446324" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447899" "00446325" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447900" "00446326" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447901" "00446327" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447902" "00446328" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447903" "00446329" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447904" "00446330" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447905" "00446331" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447906" "00446332" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447907" "00446333" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447908" "00446334" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447909" "00446335" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447910" "00446336" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447911" "00446337" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447912" "00446338" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447913" "00446339" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447914" "00446340" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447915" "00446341" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447916" "00446342" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447917" "00446343" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447918" "00446344" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447919" "00446345" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447920" "00446346" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447921" "00446347" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447922" "00446348" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447923" "00446349" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447924" "00446350" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447925" "00446351" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447926" "00446352" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447927" "00446353" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447928" "00446354" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447929" "00446355" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447930" "00446356" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447931" "00446357" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447932" "00446358" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447933" "00446359" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447934" "00446360" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447935" "00446361" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447936" "00446362" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447937" "00446363" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000447938" "00446364" "1" "01695" "00006" "2024-01-15 16:22:39" "" "" "SEQ" "DNA" "" ""
"0000448496" "00446919" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000448497" "00446920" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000448516" "00446939" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000448532" "00446955" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000448543" "00446966" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000448623" "00447046" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000448624" "00447047" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000448625" "00447048" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000448630" "00447053" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000448633" "00447056" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000448653" "00447076" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000448660" "00447083" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000448661" "00447084" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000448662" "00447085" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000448664" "00447087" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000448666" "00447089" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000448668" "00447091" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000448669" "00447092" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000448671" "00447094" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000448673" "00447096" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000448674" "00447097" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000448677" "00447100" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000448682" "00447105" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000448684" "00447107" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000448685" "00447108" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000448688" "00447111" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000448689" "00447112" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000448690" "00447113" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000448691" "00447114" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000448692" "00447115" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000448693" "00447116" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000448694" "00447117" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000448695" "00447118" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000448699" "00447122" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000448715" "00447138" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000448729" "00447152" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000448730" "00447153" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000448731" "00447154" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000448732" "00447155" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000448737" "00447160" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000448738" "00447161" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000448739" "00447162" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000448740" "00447163" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000448742" "00447165" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000448745" "00447168" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000448750" "00447173" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000448760" "00447183" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000448762" "00447185" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000448768" "00447191" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000448776" "00447199" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000448858" "00447281" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000448862" "00447285" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000448871" "00447294" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000448881" "00447304" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000448904" "00447327" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000448908" "00447331" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000448909" "00447332" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000448911" "00447334" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000448912" "00447335" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000448913" "00447336" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000448914" "00447337" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000448915" "00447338" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000448916" "00447339" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000448917" "00447340" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000448918" "00447341" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000448919" "00447342" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000448920" "00447343" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000448921" "00447344" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000448922" "00447345" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000448923" "00447346" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000448924" "00447347" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000448925" "00447348" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000448926" "00447349" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000448927" "00447350" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000448928" "00447351" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000448929" "00447352" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000448930" "00447353" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000448931" "00447354" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000448932" "00447355" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000448934" "00447357" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000448935" "00447358" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000448936" "00447359" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000448937" "00447360" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000448938" "00447361" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000448939" "00447362" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000448940" "00447363" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000448941" "00447364" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000448942" "00447365" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000448943" "00447366" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000448944" "00447367" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000448945" "00447368" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000448946" "00447369" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000448947" "00447370" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000448948" "00447371" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000448949" "00447372" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000448950" "00447373" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000448951" "00447374" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000448952" "00447375" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000448953" "00447376" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000448954" "00447377" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000448955" "00447378" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000448956" "00447379" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000448957" "00447380" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000448958" "00447381" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000448959" "00447382" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000448960" "00447383" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000448961" "00447384" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000448962" "00447385" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000448963" "00447386" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000448964" "00447387" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000448965" "00447388" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000448966" "00447389" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000448967" "00447390" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000448968" "00447391" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000448969" "00447392" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000448970" "00447393" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000448971" "00447394" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000448973" "00447396" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000448974" "00447397" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000448975" "00447398" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000448976" "00447399" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000449100" "00447523" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000449114" "00447537" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000449137" "00447560" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000449138" "00447561" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000449148" "00447571" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000449174" "00447597" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000449203" "00447626" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000449204" "00447627" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000449205" "00447628" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000449206" "00447629" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000449207" "00447630" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000449208" "00447631" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000449209" "00447632" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000449212" "00447635" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000449227" "00447650" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000449229" "00447652" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000449232" "00447655" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000449237" "00447660" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000449242" "00447665" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000449244" "00447667" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000449245" "00447668" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000449246" "00447669" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000449247" "00447670" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000449249" "00447672" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000449251" "00447674" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000449253" "00447676" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000449264" "00447687" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000449267" "00447690" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000449272" "00447695" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000449277" "00447700" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000449281" "00447704" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000449285" "00447708" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000449298" "00447721" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000451574" "00449978" "1" "02230" "00006" "2024-05-24 14:55:58" "" "" "SEQ;SEQ-NG" "DNA" "blood" "WGS"
"0000451575" "00449979" "1" "02230" "00006" "2024-05-24 14:55:58" "" "" "SEQ;SEQ-NG" "DNA" "blood" "WGS"
"0000452120" "00450522" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452121" "00450523" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452122" "00450524" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452123" "00450525" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452124" "00450526" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452125" "00450527" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452126" "00450528" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452127" "00450529" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452128" "00450530" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452129" "00450531" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452130" "00450532" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452131" "00450533" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452132" "00450534" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452133" "00450535" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452134" "00450536" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452135" "00450537" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452136" "00450538" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452137" "00450539" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452138" "00450540" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452139" "00450541" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452140" "00450542" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452141" "00450543" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452142" "00450544" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452143" "00450545" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452144" "00450546" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452145" "00450547" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452146" "00450548" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452147" "00450549" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452148" "00450550" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452149" "00450551" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452150" "00450552" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452151" "00450553" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452152" "00450554" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452153" "00450555" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452154" "00450556" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452155" "00450557" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452156" "00450558" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452157" "00450559" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452158" "00450560" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452159" "00450561" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452160" "00450562" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452161" "00450563" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452162" "00450564" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452163" "00450565" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452164" "00450566" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452165" "00450567" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452166" "00450568" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452167" "00450569" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452168" "00450570" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452169" "00450571" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452170" "00450572" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452171" "00450573" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452172" "00450574" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452173" "00450575" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452174" "00450576" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452175" "00450577" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452176" "00450578" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452177" "00450579" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452178" "00450580" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452179" "00450581" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452180" "00450582" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452181" "00450583" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452182" "00450584" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452183" "00450585" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452184" "00450586" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452185" "00450587" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452186" "00450588" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452187" "00450589" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452188" "00450590" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452189" "00450591" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452190" "00450592" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452191" "00450593" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452192" "00450594" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452193" "00450595" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452194" "00450596" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452195" "00450597" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452196" "00450598" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452197" "00450599" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452198" "00450600" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452199" "00450601" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452200" "00450602" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452201" "00450603" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452202" "00450604" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452203" "00450605" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452204" "00450606" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452205" "00450607" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452207" "00450609" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452208" "00450610" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452209" "00450611" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452210" "00450612" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452211" "00450613" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452212" "00450614" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452213" "00450615" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452214" "00450616" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452215" "00450617" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452216" "00450618" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452217" "00450619" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452218" "00450620" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452219" "00450621" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452220" "00450622" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452221" "00450623" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452222" "00450624" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452223" "00450625" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452224" "00450626" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452225" "00450627" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452226" "00450628" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452227" "00450629" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452228" "00450630" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452229" "00450631" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452230" "00450632" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452231" "00450633" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452232" "00450634" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452233" "00450635" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452234" "00450636" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452235" "00450637" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452236" "00450638" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452237" "00450639" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452238" "00450640" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452239" "00450641" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452240" "00450642" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452241" "00450643" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452242" "00450644" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452243" "00450645" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452244" "00450646" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452245" "00450647" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452246" "00450648" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452247" "00450649" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452248" "00450650" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452249" "00450651" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452250" "00450652" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452251" "00450653" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452252" "00450654" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452253" "00450655" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452254" "00450656" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452255" "00450657" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452256" "00450658" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452257" "00450659" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452258" "00450660" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452259" "00450661" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452260" "00450662" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452261" "00450663" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452262" "00450664" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452263" "00450665" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452264" "00450666" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452265" "00450667" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452266" "00450668" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452267" "00450669" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452268" "00450670" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452269" "00450671" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452270" "00450672" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452271" "00450673" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452272" "00450674" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452273" "00450675" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452274" "00450676" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452275" "00450677" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452276" "00450678" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452277" "00450679" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452278" "00450680" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452279" "00450681" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452280" "00450682" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452281" "00450683" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452282" "00450684" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452283" "00450685" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452284" "00450686" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452285" "00450687" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452286" "00450688" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452287" "00450689" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452288" "00450690" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452289" "00450691" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452290" "00450692" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452291" "00450693" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452292" "00450694" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452293" "00450695" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452294" "00450696" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452295" "00450697" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452296" "00450698" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452297" "00450699" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452298" "00450700" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452299" "00450701" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452300" "00450702" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452301" "00450703" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452302" "00450704" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452303" "00450705" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452304" "00450706" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452305" "00450707" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452306" "00450708" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452307" "00450709" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452308" "00450710" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452309" "00450711" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452584" "00450986" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452628" "00450608" "1" "00006" "00006" "2024-05-30 14:26:13" "" "" "SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452633" "00451034" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452634" "00451035" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452636" "00451037" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452637" "00451038" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452638" "00451039" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452639" "00451040" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452640" "00451041" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452641" "00451042" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452642" "00451043" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452643" "00451044" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452644" "00451045" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452645" "00451046" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452646" "00451047" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452647" "00451048" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452649" "00451050" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452650" "00451051" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452651" "00451052" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452652" "00451053" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452653" "00451054" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452654" "00451055" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452655" "00451056" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452657" "00451058" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452659" "00451060" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452662" "00451063" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452664" "00451065" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452668" "00451069" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452669" "00451070" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452670" "00451071" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452671" "00451072" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452672" "00451073" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452673" "00451074" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452674" "00451075" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452675" "00451076" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452676" "00451077" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452677" "00451078" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452678" "00451079" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452680" "00451081" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452681" "00451082" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452682" "00451083" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452683" "00451084" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452684" "00451085" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452685" "00451086" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452686" "00451087" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452687" "00451088" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452688" "00451089" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452690" "00451091" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452691" "00451092" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452692" "00451093" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452694" "00451095" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452695" "00451096" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452696" "00451097" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452697" "00451098" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452698" "00451099" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452699" "00451100" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452700" "00451101" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452702" "00451103" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452703" "00451104" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452704" "00451105" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452705" "00451106" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452706" "00451107" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452707" "00451108" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452708" "00451109" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452709" "00451110" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452710" "00451111" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452711" "00451112" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452712" "00451113" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452713" "00451114" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452714" "00451115" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452717" "00451118" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452718" "00451119" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452719" "00451120" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452725" "00451126" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452726" "00451127" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452727" "00451128" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452728" "00451129" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452729" "00451130" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452730" "00451131" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452731" "00451132" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452732" "00451133" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452733" "00451134" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452734" "00451135" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452735" "00451136" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452736" "00451137" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452737" "00451138" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452738" "00451139" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452739" "00451140" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452740" "00451141" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452741" "00451142" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452742" "00451143" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452743" "00451144" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452744" "00451145" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452745" "00451146" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452746" "00451147" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452747" "00451148" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452748" "00451149" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452749" "00451150" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452750" "00451151" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452751" "00451152" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452752" "00451153" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452753" "00451154" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452755" "00451156" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452756" "00451157" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452758" "00451159" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452759" "00451160" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452760" "00451161" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452761" "00451162" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452762" "00451163" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452764" "00451165" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452765" "00451166" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452766" "00451167" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452767" "00451168" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452768" "00451169" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452769" "00451170" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452770" "00451171" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452771" "00451172" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452772" "00451173" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452773" "00451174" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452774" "00451175" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452775" "00451176" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452776" "00451177" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452777" "00451178" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452778" "00451179" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452779" "00451180" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452780" "00451181" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452781" "00451182" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452782" "00451183" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452783" "00451184" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452784" "00451185" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452785" "00451186" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452786" "00451187" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452787" "00451188" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452788" "00451189" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452789" "00451190" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452790" "00451191" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452791" "00451192" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452792" "00451193" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452793" "00451194" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452794" "00451195" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452795" "00451196" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452796" "00451197" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452797" "00451198" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452798" "00451199" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452799" "00451200" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452800" "00451201" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452801" "00451202" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452802" "00451203" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452803" "00451204" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452808" "00451209" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452810" "00451211" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452813" "00451214" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452814" "00451215" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452817" "00451218" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452820" "00451221" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452821" "00451222" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452823" "00451224" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452826" "00451227" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452829" "00451230" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452830" "00451231" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452831" "00451232" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452833" "00451234" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452834" "00451235" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452835" "00451236" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452836" "00451237" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452837" "00451238" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452838" "00451239" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452839" "00451240" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452841" "00451242" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452842" "00451243" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452843" "00451244" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452844" "00451245" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452846" "00451247" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452847" "00451248" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452848" "00451249" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452849" "00451250" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452852" "00451253" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452853" "00451254" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452856" "00451257" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452857" "00451258" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452858" "00451259" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452859" "00451260" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452860" "00451261" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452862" "00451263" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452863" "00451264" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452864" "00451265" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452865" "00451266" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452866" "00451267" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452867" "00451268" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452868" "00451269" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452870" "00451271" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452871" "00451272" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452872" "00451273" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452875" "00451276" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452876" "00451277" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452877" "00451278" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452878" "00451279" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452879" "00451280" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452880" "00451281" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452882" "00451283" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452883" "00451284" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452885" "00451286" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452886" "00451287" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452888" "00451289" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452889" "00451290" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452891" "00451292" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452892" "00451293" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452894" "00451295" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452895" "00451296" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452897" "00451298" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452899" "00451300" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452903" "00451304" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452905" "00451306" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452906" "00451307" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452907" "00451308" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452908" "00451309" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452909" "00451310" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452911" "00451312" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452914" "00451315" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452915" "00451316" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452916" "00451317" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452917" "00451318" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452918" "00451319" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452919" "00451320" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452920" "00451321" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452921" "00451322" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452922" "00451323" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452923" "00451324" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452924" "00451325" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452925" "00451326" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452926" "00451327" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452927" "00451328" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452928" "00451329" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452929" "00451330" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452930" "00451331" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452934" "00451335" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452939" "00451340" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452940" "00451341" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452941" "00451342" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452942" "00451343" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452944" "00451345" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452946" "00451347" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452948" "00451349" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452949" "00451350" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452950" "00451351" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452951" "00451352" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452952" "00451353" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000452953" "00451354" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
"0000453046" "00451447" "1" "04701" "04701" "2024-06-05 23:07:46" "" "" "SEQ-NG" "DNA" "" ""
"0000453047" "00451448" "1" "04701" "04701" "2024-06-06 01:23:55" "" "" "SEQ-NG" "DNA" "" ""
"0000453048" "00451449" "1" "04701" "04701" "2024-06-06 01:48:15" "" "" "SEQ-NG" "DNA" "" ""
"0000453049" "00451450" "1" "04701" "04701" "2024-06-06 01:59:54" "" "" "SEQ-NG" "DNA" "" ""
"0000453050" "00451451" "1" "04701" "04701" "2024-06-06 02:16:01" "" "" "SEQ-NG" "DNA" "" ""
"0000453051" "00451452" "1" "04701" "04701" "2024-06-06 02:23:42" "" "" "SEQ-NG" "DNA" "" ""
"0000453052" "00451453" "1" "04701" "04701" "2024-06-06 19:16:40" "" "" "SEQ-NG" "DNA" "" ""
"0000453053" "00451454" "1" "04701" "04701" "2024-06-06 19:33:47" "" "" "SEQ-NG" "DNA" "" ""
"0000453054" "00451455" "1" "04701" "04701" "2024-06-06 19:44:25" "" "" "SEQ-NG" "DNA" "" ""
"0000453066" "00451465" "1" "04701" "04701" "2024-06-07 01:48:08" "" "" "SEQ-NG" "DNA" "" ""
"0000453067" "00451466" "1" "04701" "04701" "2024-06-07 01:59:21" "" "" "SEQ-NG" "DNA" "" ""
"0000453068" "00451467" "1" "04701" "04701" "2024-06-07 02:20:38" "" "" "SEQ-NG" "DNA" "" ""
"0000453069" "00451468" "1" "04701" "04701" "2024-06-07 02:33:30" "" "" "SEQ-NG" "DNA" "" ""
"0000453070" "00451469" "1" "04701" "04701" "2024-06-07 03:00:33" "" "" "SEQ-NG" "DNA" "" ""
"0000453071" "00451470" "1" "04701" "04701" "2024-06-07 03:18:02" "" "" "SEQ-NG" "DNA" "" ""
"0000453072" "00451471" "1" "04701" "04701" "2024-06-07 03:35:50" "" "" "SEQ-NG" "DNA" "" ""
"0000453073" "00451472" "1" "04701" "04701" "2024-06-07 04:53:55" "" "" "SEQ-NG" "DNA" "" ""
"0000453074" "00451473" "1" "04701" "04701" "2024-06-07 05:08:42" "" "" "SEQ-NG" "DNA" "" ""
"0000453075" "00451474" "1" "04701" "04701" "2024-06-07 05:31:40" "" "" "SEQ-NG" "DNA" "" ""
"0000453076" "00451475" "1" "04701" "04701" "2024-06-07 05:42:41" "" "" "SEQ-NG" "DNA" "" ""
"0000453077" "00451476" "1" "04701" "04701" "2024-06-07 06:01:16" "" "" "SEQ-NG" "DNA" "" ""
"0000453078" "00451477" "1" "04701" "04701" "2024-06-07 06:11:48" "" "" "SEQ-NG" "DNA" "" ""
"0000453079" "00451478" "1" "04701" "04701" "2024-06-07 06:25:01" "" "" "SEQ-NG" "DNA" "" ""
"0000453080" "00451479" "1" "04701" "04701" "2024-06-07 06:34:50" "" "" "SEQ-NG" "DNA" "" ""
"0000453081" "00451480" "1" "04701" "04701" "2024-06-07 06:42:00" "" "" "SEQ-NG" "DNA" "" ""
"0000453082" "00451481" "1" "04701" "04701" "2024-06-07 06:49:58" "" "" "SEQ-NG" "DNA" "" ""
"0000453083" "00451482" "1" "04701" "04701" "2024-06-07 06:58:10" "" "" "SEQ-NG" "DNA" "" ""
"0000453084" "00451483" "1" "04701" "04701" "2024-06-07 07:06:24" "" "" "SEQ-NG" "DNA" "" ""
"0000453087" "00451486" "1" "04701" "04701" "2024-06-07 16:18:55" "" "" "SEQ-NG" "DNA" "" ""
"0000453088" "00451487" "1" "04701" "04701" "2024-06-07 16:23:07" "" "" "SEQ-NG" "DNA" "" ""
"0000453089" "00451488" "1" "04701" "04701" "2024-06-07 16:43:58" "" "" "SEQ-NG" "DNA" "" ""
"0000453090" "00451489" "1" "04701" "04701" "2024-06-07 16:52:04" "" "" "SEQ-NG" "DNA" "" ""
"0000453091" "00451490" "1" "04701" "04701" "2024-06-07 16:58:31" "" "" "SEQ-NG" "DNA" "" ""
"0000453092" "00451491" "1" "04701" "04701" "2024-06-07 18:54:38" "" "" "SEQ-NG" "DNA" "" ""
"0000453093" "00451492" "1" "04701" "04701" "2024-06-07 19:10:27" "" "" "SEQ-NG" "DNA" "" ""
"0000453094" "00451493" "1" "04701" "04701" "2024-06-07 19:22:21" "" "" "SEQ-NG" "DNA" "" ""
"0000453095" "00451494" "1" "04701" "04701" "2024-06-07 19:27:21" "" "" "SEQ-NG" "DNA" "" ""
"0000453096" "00451495" "1" "04701" "04701" "2024-06-07 19:33:30" "" "" "SEQ-NG" "DNA" "" ""
"0000453097" "00451496" "1" "04701" "04701" "2024-06-07 19:53:13" "" "" "SEQ-NG" "DNA" "" ""
"0000453098" "00451497" "1" "04701" "04701" "2024-06-07 20:12:31" "" "" "SEQ-NG" "DNA" "" ""
"0000453099" "00451498" "1" "04701" "04701" "2024-06-07 20:20:48" "" "" "SEQ-NG" "DNA" "" ""
"0000453100" "00451499" "1" "04701" "04701" "2024-06-07 20:26:27" "" "" "SEQ-NG" "DNA" "" ""
"0000453101" "00451500" "1" "04701" "04701" "2024-06-07 20:30:45" "" "" "SEQ-NG" "DNA" "" ""
"0000453102" "00451501" "1" "04701" "04701" "2024-06-07 20:37:57" "" "" "SEQ-NG" "DNA" "" ""
"0000453103" "00451502" "1" "04701" "04701" "2024-06-07 20:41:35" "" "" "SEQ-NG" "DNA" "" ""
"0000453104" "00451503" "1" "04701" "04701" "2024-06-07 20:47:56" "" "" "SEQ-NG" "DNA" "" ""
"0000453105" "00451504" "1" "04701" "04701" "2024-06-07 20:55:33" "" "" "SEQ-NG" "DNA" "" ""
"0000453106" "00451505" "1" "04701" "04701" "2024-06-07 21:01:58" "" "" "SEQ-NG" "DNA" "" ""
"0000453107" "00451506" "1" "04701" "04701" "2024-06-07 21:08:31" "" "" "SEQ-NG" "DNA" "" ""
"0000453108" "00451507" "1" "04701" "04701" "2024-06-07 21:20:11" "" "" "SEQ-NG" "DNA" "" ""
"0000453109" "00451508" "1" "04701" "04701" "2024-06-07 21:26:46" "" "" "SEQ-NG" "DNA" "" ""
"0000453110" "00451509" "1" "04701" "04701" "2024-06-07 21:32:21" "" "" "SEQ-NG" "DNA" "" ""
"0000453111" "00451510" "1" "04701" "04701" "2024-06-07 21:36:20" "" "" "SEQ-NG" "DNA" "" ""
"0000453112" "00451511" "1" "04701" "04701" "2024-06-07 21:40:54" "" "" "SEQ-NG" "DNA" "" ""
"0000453113" "00451512" "1" "04701" "04701" "2024-06-07 21:44:39" "" "" "SEQ-NG" "DNA" "" ""
"0000453114" "00451513" "1" "04701" "04701" "2024-06-07 21:48:36" "" "" "SEQ-NG" "DNA" "" ""
"0000453115" "00451514" "1" "04701" "04701" "2024-06-07 21:53:39" "" "" "SEQ-NG" "DNA" "" ""
"0000453116" "00451515" "1" "04701" "04701" "2024-06-07 22:37:02" "" "" "SEQ-NG" "DNA" "" ""
"0000453117" "00451516" "1" "04701" "04701" "2024-06-07 22:41:31" "" "" "SEQ-NG" "DNA" "" ""
"0000453118" "00451517" "1" "04701" "04701" "2024-06-07 22:44:44" "" "" "SEQ-NG" "DNA" "" ""
"0000453119" "00451518" "1" "04701" "04701" "2024-06-07 22:48:26" "" "" "SEQ-NG" "DNA" "" ""
"0000453120" "00451519" "1" "04701" "04701" "2024-06-07 22:51:28" "" "" "SEQ-NG" "DNA" "" ""
"0000453121" "00451520" "1" "04701" "04701" "2024-06-07 22:55:35" "" "" "SEQ-NG" "DNA" "" ""
"0000453122" "00451521" "1" "04701" "04701" "2024-06-07 22:59:05" "" "" "SEQ-NG" "DNA" "" ""
"0000453123" "00451522" "1" "04701" "04701" "2024-06-07 23:09:42" "" "" "SEQ-NG" "DNA" "" ""
"0000453124" "00451523" "1" "04701" "04701" "2024-06-07 23:13:32" "" "" "SEQ-NG" "DNA" "" ""
"0000453125" "00451524" "1" "04701" "04701" "2024-06-07 23:16:39" "" "" "SEQ-NG" "DNA" "" ""
"0000453126" "00451525" "1" "04701" "04701" "2024-06-07 23:20:34" "" "" "SEQ-NG" "DNA" "" ""
"0000453127" "00451526" "1" "04701" "04701" "2024-06-07 23:24:03" "" "" "SEQ-NG" "DNA" "" ""
"0000453128" "00451527" "1" "04701" "04701" "2024-06-07 23:28:36" "" "" "SEQ-NG" "DNA" "" ""
"0000453129" "00451528" "1" "04701" "04701" "2024-06-07 23:31:45" "" "" "SEQ-NG" "DNA" "" ""
"0000453239" "00451637" "1" "04221" "04221" "2024-06-18 00:00:57" "" "" "SEQ-NG-I" "DNA" "gDNA from peripheral blood" "whole exome sequencing"
"0000462698" "00461066" "1" "00006" "00006" "2025-01-31 08:52:59" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000462700" "00461068" "1" "00006" "00006" "2025-01-31 08:52:59" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000462702" "00461070" "1" "00006" "00006" "2025-01-31 08:52:59" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000462703" "00461071" "1" "00006" "00006" "2025-01-31 08:52:59" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000462712" "00461080" "1" "00006" "00006" "2025-01-31 08:52:59" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000462715" "00461083" "1" "00006" "00006" "2025-01-31 08:52:59" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000462733" "00461101" "1" "00006" "00006" "2025-01-31 08:52:59" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000462735" "00461103" "1" "00006" "00006" "2025-01-31 08:52:59" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000462736" "00461104" "1" "00006" "00006" "2025-01-31 08:52:59" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000462737" "00461105" "1" "00006" "00006" "2025-01-31 08:52:59" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000462738" "00461106" "1" "00006" "00006" "2025-01-31 08:52:59" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000462739" "00461107" "1" "00006" "00006" "2025-01-31 08:52:59" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000462752" "00461120" "1" "00006" "00006" "2025-01-31 08:52:59" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000462753" "00461121" "1" "00006" "00006" "2025-01-31 08:52:59" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000462758" "00461126" "1" "00006" "00006" "2025-01-31 08:52:59" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000462768" "00461136" "1" "00006" "00006" "2025-01-31 08:52:59" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000462771" "00461139" "1" "00006" "00006" "2025-01-31 08:52:59" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000462772" "00461140" "1" "00006" "00006" "2025-01-31 08:52:59" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000466902" "00465252" "1" "04839" "04839" "2025-05-03 05:25:15" "00006" "2025-05-05 15:59:40" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" ""
"0000469499" "00467833" "1" "00006" "00006" "2025-10-31 22:30:31" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS"
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 16909
"{{screeningid}}" "{{geneid}}"
"0000000238" "CCDC40"
"0000000240" "CCDC40"
"0000016831" "ABCA4"
"0000016832" "ABCA4"
"0000016833" "ABCA4"
"0000016834" "ABCA4"
"0000016835" "ABCA4"
"0000016836" "ABCA4"
"0000016838" "ABCA4"
"0000016839" "ABCA4"
"0000016840" "ABCA4"
"0000016841" "ABCA4"
"0000016842" "ABCA4"
"0000016843" "ABCA4"
"0000016845" "ABCA4"
"0000016846" "ABCA4"
"0000016847" "ABCA4"
"0000016848" "ABCA4"
"0000016849" "ABCA4"
"0000016861" "ABCA4"
"0000016862" "ABCA4"
"0000016863" "ABCA4"
"0000016864" "ABCA4"
"0000016865" "ABCA4"
"0000016866" "ABCA4"
"0000016867" "ABCA4"
"0000016868" "ABCA4"
"0000016869" "ABCA4"
"0000016870" "ABCA4"
"0000016871" "ABCA4"
"0000016875" "ABCA4"
"0000016876" "ABCA4"
"0000016877" "ABCA4"
"0000016878" "ABCA4"
"0000016879" "ABCA4"
"0000016880" "ABCA4"
"0000016881" "ABCA4"
"0000016882" "ABCA4"
"0000016883" "ABCA4"
"0000016884" "ABCA4"
"0000016886" "ABCA4"
"0000016888" "ABCA4"
"0000016889" "ABCA4"
"0000033155" "ABCA4"
"0000033155" "CA4"
"0000033155" "RP2"
"0000033161" "ABCA4"
"0000033161" "CRB1"
"0000033161" "SEMA4A"
"0000033161" "TOPORS"
"0000033192" "ABCA4"
"0000033192" "GUCA1B"
"0000033192" "RP2"
"0000033198" "ABCA4"
"0000033198" "GUCY2D"
"0000033198" "NPHP3"
"0000033198" "PDE6B"
"0000033198" "RP9"
"0000033200" "ABCA4"
"0000033200" "EYS"
"0000033200" "GUCY2D"
"0000033205" "ABCA4"
"0000033220" "ABCA4"
"0000033220" "AIPL1"
"0000033220" "GUCY2D"
"0000033220" "NR2E3"
"0000033221" "ABCA4"
"0000033221" "SEMA4A"
"0000033410" "ABCA4"
"0000033706" "ABCA4"
"0000033707" "ABCA4"
"0000033708" "ABCA4"
"0000033709" "ABCA4"
"0000033710" "ABCA4"
"0000033711" "ABCA4"
"0000033712" "ABCA4"
"0000033713" "ABCA4"
"0000033714" "ABCA4"
"0000033715" "ABCA4"
"0000033716" "ABCA4"
"0000033717" "ABCA4"
"0000033718" "ABCA4"
"0000033719" "ABCA4"
"0000033720" "ABCA4"
"0000033721" "ABCA4"
"0000033722" "ABCA4"
"0000033723" "ABCA4"
"0000033724" "ABCA4"
"0000033725" "ABCA4"
"0000033726" "ABCA4"
"0000033727" "ABCA4"
"0000033728" "ABCA4"
"0000033729" "ABCA4"
"0000033730" "ABCA4"
"0000033731" "ABCA4"
"0000033732" "ABCA4"
"0000033733" "ABCA4"
"0000033734" "ABCA4"
"0000033735" "ABCA4"
"0000033736" "ABCA4"
"0000033737" "ABCA4"
"0000033738" "ABCA4"
"0000033739" "ABCA4"
"0000033740" "ABCA4"
"0000033741" "ABCA4"
"0000033742" "ABCA4"
"0000033743" "ABCA4"
"0000033744" "ABCA4"
"0000033745" "ABCA4"
"0000033751" "ABCA4"
"0000033772" "ABCA4"
"0000033773" "ABCA4"
"0000033774" "ABCA4"
"0000033775" "ABCA4"
"0000033776" "ABCA4"
"0000033777" "ABCA4"
"0000033778" "ABCA4"
"0000033779" "ABCA4"
"0000033780" "ABCA4"
"0000033781" "ABCA4"
"0000033782" "ABCA4"
"0000033783" "ABCA4"
"0000033784" "ABCA4"
"0000033785" "ABCA4"
"0000033786" "ABCA4"
"0000033787" "ABCA4"
"0000038553" "CRB1"
"0000038602" "CRB1"
"0000052897" "RPE65"
"0000057744" "ABCA4"
"0000074862" "ABCA4"
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"0000447559" "ABCA4"
"0000447560" "ABCA4"
"0000447561" "ABCA4"
"0000447562" "ABCA4"
"0000447563" "ABCA4"
"0000447564" "ABCA4"
"0000447565" "ABCA4"
"0000447566" "ABCA4"
"0000447567" "ABCA4"
"0000447568" "ABCA4"
"0000447569" "ABCA4"
"0000447570" "ABCA4"
"0000447571" "ABCA4"
"0000447572" "ABCA4"
"0000447573" "ABCA4"
"0000447574" "ABCA4"
"0000447575" "ABCA4"
"0000447576" "ABCA4"
"0000447577" "ABCA4"
"0000447578" "ABCA4"
"0000447579" "ABCA4"
"0000447580" "ABCA4"
"0000447581" "ABCA4"
"0000447582" "ABCA4"
"0000447583" "ABCA4"
"0000447584" "ABCA4"
"0000447585" "ABCA4"
"0000447586" "ABCA4"
"0000447587" "ABCA4"
"0000447588" "ABCA4"
"0000447589" "ABCA4"
"0000447590" "ABCA4"
"0000447591" "ABCA4"
"0000447592" "ABCA4"
"0000447593" "ABCA4"
"0000447594" "ABCA4"
"0000447595" "ABCA4"
"0000447596" "ABCA4"
"0000447597" "ABCA4"
"0000447598" "ABCA4"
"0000447599" "ABCA4"
"0000447600" "ABCA4"
"0000447601" "ABCA4"
"0000447602" "ABCA4"
"0000447603" "ABCA4"
"0000447604" "ABCA4"
"0000447605" "ABCA4"
"0000447606" "ABCA4"
"0000447607" "ABCA4"
"0000447608" "ABCA4"
"0000447609" "ABCA4"
"0000447610" "ABCA4"
"0000447611" "ABCA4"
"0000447612" "ABCA4"
"0000447613" "ABCA4"
"0000447614" "ABCA4"
"0000447615" "ABCA4"
"0000447616" "ABCA4"
"0000447617" "ABCA4"
"0000447618" "ABCA4"
"0000447619" "ABCA4"
"0000447620" "ABCA4"
"0000447621" "ABCA4"
"0000447622" "ABCA4"
"0000447623" "ABCA4"
"0000447624" "ABCA4"
"0000447625" "ABCA4"
"0000447626" "ABCA4"
"0000447627" "ABCA4"
"0000447628" "ABCA4"
"0000447629" "ABCA4"
"0000447630" "ABCA4"
"0000447631" "ABCA4"
"0000447632" "ABCA4"
"0000447633" "ABCA4"
"0000447634" "ABCA4"
"0000447635" "ABCA4"
"0000447636" "ABCA4"
"0000447637" "ABCA4"
"0000447638" "ABCA4"
"0000447639" "ABCA4"
"0000447640" "ABCA4"
"0000447641" "ABCA4"
"0000447642" "ABCA4"
"0000447643" "ABCA4"
"0000447644" "ABCA4"
"0000447645" "ABCA4"
"0000447646" "ABCA4"
"0000447647" "ABCA4"
"0000447648" "ABCA4"
"0000447649" "ABCA4"
"0000447650" "ABCA4"
"0000447651" "ABCA4"
"0000447652" "ABCA4"
"0000447653" "ABCA4"
"0000447654" "ABCA4"
"0000447655" "ABCA4"
"0000447656" "ABCA4"
"0000447657" "ABCA4"
"0000447658" "ABCA4"
"0000447659" "ABCA4"
"0000447660" "ABCA4"
"0000447661" "ABCA4"
"0000447662" "ABCA4"
"0000447663" "ABCA4"
"0000447664" "ABCA4"
"0000447665" "ABCA4"
"0000447666" "ABCA4"
"0000447667" "ABCA4"
"0000447668" "ABCA4"
"0000447669" "ABCA4"
"0000447670" "ABCA4"
"0000447671" "ABCA4"
"0000447672" "ABCA4"
"0000447673" "ABCA4"
"0000447674" "ABCA4"
"0000447675" "ABCA4"
"0000447676" "ABCA4"
"0000447677" "ABCA4"
"0000447678" "ABCA4"
"0000447679" "ABCA4"
"0000447680" "ABCA4"
"0000447681" "ABCA4"
"0000447682" "ABCA4"
"0000447683" "ABCA4"
"0000447684" "ABCA4"
"0000447685" "ABCA4"
"0000447686" "ABCA4"
"0000447687" "ABCA4"
"0000447688" "ABCA4"
"0000447689" "ABCA4"
"0000447690" "ABCA4"
"0000447691" "ABCA4"
"0000447692" "ABCA4"
"0000447693" "ABCA4"
"0000447694" "ABCA4"
"0000447695" "ABCA4"
"0000447696" "ABCA4"
"0000447697" "ABCA4"
"0000447698" "ABCA4"
"0000447699" "ABCA4"
"0000447700" "ABCA4"
"0000447701" "ABCA4"
"0000447702" "ABCA4"
"0000447703" "ABCA4"
"0000447704" "ABCA4"
"0000447705" "ABCA4"
"0000447706" "ABCA4"
"0000447707" "ABCA4"
"0000447708" "ABCA4"
"0000447709" "ABCA4"
"0000447710" "ABCA4"
"0000447711" "ABCA4"
"0000447712" "ABCA4"
"0000447713" "ABCA4"
"0000447714" "ABCA4"
"0000447715" "ABCA4"
"0000447716" "ABCA4"
"0000447717" "ABCA4"
"0000447718" "ABCA4"
"0000447719" "ABCA4"
"0000447720" "ABCA4"
"0000447721" "ABCA4"
"0000447722" "ABCA4"
"0000447723" "ABCA4"
"0000447724" "ABCA4"
"0000447725" "ABCA4"
"0000447726" "ABCA4"
"0000447727" "ABCA4"
"0000447728" "ABCA4"
"0000447729" "ABCA4"
"0000447730" "ABCA4"
"0000447731" "ABCA4"
"0000447732" "ABCA4"
"0000447733" "ABCA4"
"0000447734" "ABCA4"
"0000447735" "ABCA4"
"0000447736" "ABCA4"
"0000447737" "ABCA4"
"0000447738" "ABCA4"
"0000447739" "ABCA4"
"0000447740" "ABCA4"
"0000447741" "ABCA4"
"0000447742" "ABCA4"
"0000447743" "ABCA4"
"0000447744" "ABCA4"
"0000447745" "ABCA4"
"0000447746" "ABCA4"
"0000447747" "ABCA4"
"0000447748" "ABCA4"
"0000447749" "ABCA4"
"0000447750" "ABCA4"
"0000447751" "ABCA4"
"0000447752" "ABCA4"
"0000447753" "ABCA4"
"0000447754" "ABCA4"
"0000447755" "ABCA4"
"0000447756" "ABCA4"
"0000447757" "ABCA4"
"0000447758" "ABCA4"
"0000447759" "ABCA4"
"0000447760" "ABCA4"
"0000447761" "ABCA4"
"0000447762" "ABCA4"
"0000447763" "ABCA4"
"0000447764" "ABCA4"
"0000447765" "ABCA4"
"0000447766" "ABCA4"
"0000447767" "ABCA4"
"0000447768" "ABCA4"
"0000447769" "ABCA4"
"0000447770" "ABCA4"
"0000447771" "ABCA4"
"0000447772" "ABCA4"
"0000447773" "ABCA4"
"0000447774" "ABCA4"
"0000447775" "ABCA4"
"0000447776" "ABCA4"
"0000447777" "ABCA4"
"0000447778" "ABCA4"
"0000447779" "ABCA4"
"0000447780" "ABCA4"
"0000447781" "ABCA4"
"0000447782" "ABCA4"
"0000447783" "ABCA4"
"0000447784" "ABCA4"
"0000447785" "ABCA4"
"0000447786" "ABCA4"
"0000447787" "ABCA4"
"0000447788" "ABCA4"
"0000447789" "ABCA4"
"0000447790" "ABCA4"
"0000447791" "ABCA4"
"0000447792" "ABCA4"
"0000447793" "ABCA4"
"0000447794" "ABCA4"
"0000447795" "ABCA4"
"0000447796" "ABCA4"
"0000447797" "ABCA4"
"0000447798" "ABCA4"
"0000447799" "ABCA4"
"0000447800" "ABCA4"
"0000447801" "ABCA4"
"0000447802" "ABCA4"
"0000447803" "ABCA4"
"0000447804" "ABCA4"
"0000447805" "ABCA4"
"0000447806" "ABCA4"
"0000447807" "ABCA4"
"0000447808" "ABCA4"
"0000447809" "ABCA4"
"0000447810" "ABCA4"
"0000447811" "ABCA4"
"0000447812" "ABCA4"
"0000447813" "ABCA4"
"0000447814" "ABCA4"
"0000447815" "ABCA4"
"0000447816" "ABCA4"
"0000447817" "ABCA4"
"0000447818" "ABCA4"
"0000447819" "ABCA4"
"0000447820" "ABCA4"
"0000447821" "ABCA4"
"0000447822" "ABCA4"
"0000447823" "ABCA4"
"0000447824" "ABCA4"
"0000447825" "ABCA4"
"0000447826" "ABCA4"
"0000447827" "ABCA4"
"0000447828" "ABCA4"
"0000447829" "ABCA4"
"0000447830" "ABCA4"
"0000447831" "ABCA4"
"0000447832" "ABCA4"
"0000447833" "ABCA4"
"0000447834" "ABCA4"
"0000447835" "ABCA4"
"0000447836" "ABCA4"
"0000447837" "ABCA4"
"0000447838" "ABCA4"
"0000447839" "ABCA4"
"0000447840" "ABCA4"
"0000447841" "ABCA4"
"0000447842" "ABCA4"
"0000447843" "ABCA4"
"0000447844" "ABCA4"
"0000447845" "ABCA4"
"0000447846" "ABCA4"
"0000447847" "ABCA4"
"0000447848" "ABCA4"
"0000447849" "ABCA4"
"0000447850" "ABCA4"
"0000447851" "ABCA4"
"0000447852" "ABCA4"
"0000447853" "ABCA4"
"0000447854" "ABCA4"
"0000447855" "ABCA4"
"0000447856" "ABCA4"
"0000447857" "ABCA4"
"0000447858" "ABCA4"
"0000447859" "ABCA4"
"0000447860" "ABCA4"
"0000447861" "ABCA4"
"0000447862" "ABCA4"
"0000447863" "ABCA4"
"0000447864" "ABCA4"
"0000447865" "ABCA4"
"0000447866" "ABCA4"
"0000447867" "ABCA4"
"0000447868" "ABCA4"
"0000447869" "ABCA4"
"0000447870" "ABCA4"
"0000447871" "ABCA4"
"0000447872" "ABCA4"
"0000447873" "ABCA4"
"0000447874" "ABCA4"
"0000447875" "ABCA4"
"0000447876" "ABCA4"
"0000447877" "ABCA4"
"0000447878" "ABCA4"
"0000447879" "ABCA4"
"0000447880" "ABCA4"
"0000447881" "ABCA4"
"0000447882" "ABCA4"
"0000447883" "ABCA4"
"0000447884" "ABCA4"
"0000447885" "ABCA4"
"0000447886" "ABCA4"
"0000447887" "ABCA4"
"0000447888" "ABCA4"
"0000447889" "ABCA4"
"0000447890" "ABCA4"
"0000447891" "ABCA4"
"0000447892" "ABCA4"
"0000447893" "ABCA4"
"0000447894" "ABCA4"
"0000447895" "ABCA4"
"0000447896" "ABCA4"
"0000447897" "ABCA4"
"0000447898" "ABCA4"
"0000447899" "ABCA4"
"0000447900" "ABCA4"
"0000447901" "ABCA4"
"0000447902" "ABCA4"
"0000447903" "ABCA4"
"0000447904" "ABCA4"
"0000447905" "ABCA4"
"0000447906" "ABCA4"
"0000447907" "ABCA4"
"0000447908" "ABCA4"
"0000447909" "ABCA4"
"0000447910" "ABCA4"
"0000447911" "ABCA4"
"0000447912" "ABCA4"
"0000447913" "ABCA4"
"0000447914" "ABCA4"
"0000447915" "ABCA4"
"0000447916" "ABCA4"
"0000447917" "ABCA4"
"0000447918" "ABCA4"
"0000447919" "ABCA4"
"0000447920" "ABCA4"
"0000447921" "ABCA4"
"0000447922" "ABCA4"
"0000447923" "ABCA4"
"0000447924" "ABCA4"
"0000447925" "ABCA4"
"0000447926" "ABCA4"
"0000447927" "ABCA4"
"0000447928" "ABCA4"
"0000447929" "ABCA4"
"0000447930" "ABCA4"
"0000447931" "ABCA4"
"0000447932" "ABCA4"
"0000447933" "ABCA4"
"0000447934" "ABCA4"
"0000447935" "ABCA4"
"0000447936" "ABCA4"
"0000447937" "ABCA4"
"0000447938" "ABCA4"
"0000453046" "ABCA4"
"0000453047" "ABCA4"
"0000453048" "ABCA4"
"0000453049" "ABCA4"
"0000453050" "ABCA4"
"0000453051" "ABCA4"
"0000453052" "ABCA4"
"0000453053" "ABCA4"
"0000453054" "ABCA4"
"0000453066" "ABCA4"
"0000453067" "ABCA4"
"0000453068" "ABCA4"
"0000453069" "ABCA4"
"0000453070" "ABCA4"
"0000453071" "ABCA4"
"0000453072" "ABCA4"
"0000453073" "ABCA4"
"0000453074" "ABCA4"
"0000453075" "ABCA4"
"0000453076" "ABCA4"
"0000453077" "ABCA4"
"0000453078" "ABCA4"
"0000453079" "ABCA4"
"0000453080" "ABCA4"
"0000453081" "ABCA4"
"0000453082" "ABCA4"
"0000453083" "ABCA4"
"0000453084" "ABCA4"
"0000453087" "ABCA4"
"0000453088" "ABCA4"
"0000453089" "ABCA4"
"0000453090" "ABCA4"
"0000453091" "ABCA4"
"0000453092" "ABCA4"
"0000453093" "ABCA4"
"0000453094" "ABCA4"
"0000453095" "ABCA4"
"0000453096" "ABCA4"
"0000453097" "ABCA4"
"0000453098" "ABCA4"
"0000453099" "ABCA4"
"0000453100" "ABCA4"
"0000453101" "ABCA4"
"0000453102" "ABCA4"
"0000453103" "ABCA4"
"0000453104" "ABCA4"
"0000453105" "ABCA4"
"0000453106" "ABCA4"
"0000453107" "ABCA4"
"0000453108" "ABCA4"
"0000453109" "ABCA4"
"0000453110" "ABCA4"
"0000453111" "ABCA4"
"0000453112" "ABCA4"
"0000453113" "ABCA4"
"0000453114" "ABCA4"
"0000453115" "ABCA4"
"0000453116" "ABCA4"
"0000453117" "ABCA4"
"0000453118" "ABCA4"
"0000453119" "ABCA4"
"0000453120" "ABCA4"
"0000453121" "ABCA4"
"0000453122" "ABCA4"
"0000453123" "ABCA4"
"0000453124" "ABCA4"
"0000453125" "ABCA4"
"0000453126" "ABCA4"
"0000453127" "ABCA4"
"0000453128" "ABCA4"
"0000453129" "ABCA4"
"0000453239" "DBT"
"0000466902" "ABCA4"
## Variants_On_Genome ## Do not remove or alter this header ##
## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene.
## Count = 36112
"{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{average_frequency}}" "{{owned_by}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{VariantOnGenome/Restriction_site}}" "{{VariantOnGenome/Published_as}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/Genetic_origin}}" "{{VariantOnGenome/Segregation}}" "{{VariantOnGenome/dbSNP}}" "{{VariantOnGenome/VIP}}" "{{VariantOnGenome/Methylation}}" "{{VariantOnGenome/ISCN}}" "{{VariantOnGenome/DNA/hg38}}" "{{VariantOnGenome/ClinVar}}" "{{VariantOnGenome/ClinicalClassification}}" "{{VariantOnGenome/ClinicalClassification/Method}}"
"0000019491" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "00102" "ABCA4_000021" "g.94508969G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic" ""
"0000019492" "0" "90" "1" "94490567" "94490567" "subst" "5.68528E-5" "00102" "ABCA4_000026" "g.94490567G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.94025011G>A" "" "pathogenic" ""
"0000019493" "0" "90" "1" "94528806" "94528806" "subst" "0.000150298" "00102" "ABCA4_000020" "g.94528806A>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "pathogenic" ""
"0000019494" "0" "90" "1" "94564460" "94564460" "subst" "8.1355E-6" "00102" "ABCA4_000056" "g.94564460G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.94098904G>A" "" "pathogenic" ""
"0000019518" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "00102" "ABCA4_000034" "g.94517254C>G" "" "" "" "" "" "Unknown" "" "rs76157638" "0" "" "" "g.94051698C>G" "" "pathogenic" ""
"0000019519" "0" "70" "1" "94495008" "94495008" "subst" "0" "00102" "ABCA4_000055" "g.94495008G>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.94029452G>C" "" "likely pathogenic" ""
"0000036424" "3" "70" "1" "94471056" "94471056" "subst" "2.84398E-5" "00552" "ABCA4_000050" "g.94471056G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.94005500G>A" "" "likely pathogenic" ""
"0000036435" "0" "90" "1" "94508316" "94508316" "subst" "0" "00552" "ABCA4_000053" "g.94508316C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.94042760C>G" "" "pathogenic" ""
"0000036436" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "00552" "ABCA4_000046" "g.94473807C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000036729" "0" "50" "1" "94512602" "94512602" "subst" "0.000369717" "00717" "ABCA4_000052" "g.94512602C>T" "" "{PMID:Zernant 2014:25066811}" "" "" "" "Germline" "" "" "0" "" "" "g.94047046C>T" "" "VUS" ""
"0000036730" "0" "70" "1" "94577112" "94577112" "subst" "4.06164E-6" "00717" "ABCA4_000051" "g.94577112G>A" "" "{PMID:Zernant 2014:25066811}" "" "" "" "Germline" "" "" "0" "" "" "g.94111556G>A" "" "likely pathogenic" ""
"0000036731" "0" "50" "1" "94528143" "94528143" "subst" "0.00124448" "00717" "ABCA4_000076" "g.94528143C>T" "" "{PMID:Zernant 2014:25066811}" "" "" "" "Germline" "" "" "0" "" "" "g.94062587C>T" "" "VUS" ""
"0000036732" "0" "50" "1" "94505604" "94505604" "subst" "0.00645586" "00717" "ABCA4_000092" "g.94505604A>C" "" "{PMID:Zernant 2014:25066811}" "" "" "" "Germline" "" "" "0" "" "" "g.94040048A>C" "" "VUS" ""
"0000036733" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "00717" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Zernant 2014:25066811}" "" "" "" "Germline" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic" ""
"0000036734" "0" "70" "1" "94564460" "94564460" "subst" "8.1355E-6" "00717" "ABCA4_000056" "g.94564460G>A" "" "{PMID:Zernant 2014:25066811}" "" "" "" "Germline" "" "" "0" "" "" "g.94098904G>A" "" "likely pathogenic" ""
"0000036735" "0" "50" "1" "94528143" "94528143" "subst" "0.00124448" "00717" "ABCA4_000076" "g.94528143C>T" "" "{PMID:Zernant 2014:25066811}" "" "" "" "Germline" "" "" "0" "" "" "g.94062587C>T" "" "VUS" ""
"0000036736" "0" "30" "1" "94466624" "94466624" "subst" "0.0014345" "00717" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Zernant 2014:25066811}" "" "" "" "Germline" "" "" "0" "" "" "g.94001068C>T" "" "likely benign" ""
"0000036737" "0" "50" "1" "94505604" "94505604" "subst" "0.00645586" "00717" "ABCA4_000092" "g.94505604A>C" "" "{PMID:Zernant 2014:25066811}" "" "" "" "Germline" "" "" "0" "" "" "g.94040048A>C" "" "VUS" ""
"0000036738" "0" "70" "1" "94544909" "94544909" "subst" "4.06111E-6" "00717" "ABCA4_000081" "g.94544909T>A" "" "{PMID:Zernant 2014:25066811}" "" "" "" "Germline" "" "" "0" "" "" "g.94079353T>A" "" "likely pathogenic" ""
"0000036739" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00717" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Zernant 2014:25066811}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000036740" "0" "70" "1" "94496582" "94496582" "subst" "0" "00717" "ABCA4_000089" "g.94496582C>A" "" "{PMID:Zernant 2014:25066811}" "" "" "" "Germline" "" "" "0" "" "" "g.94031026C>A" "" "likely pathogenic" ""
"0000036741" "0" "30" "1" "94466624" "94466624" "subst" "0.0014345" "00717" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Zernant 2014:25066811}" "" "" "" "Germline" "" "" "0" "" "" "g.94001068C>T" "" "likely benign" ""
"0000036742" "0" "30" "1" "94466624" "94466624" "subst" "0.0014345" "00717" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Zernant 2014:25066811}" "" "" "" "Germline" "" "" "0" "" "" "g.94001068C>T" "" "likely benign" ""
"0000036743" "0" "70" "1" "94546207" "94546207" "subst" "0.000101665" "00717" "ABCA4_000083" "g.94546207G>C" "" "{PMID:Zernant 2014:25066811}" "" "" "" "Germline" "" "" "0" "" "" "g.94080651G>C" "" "likely pathogenic" ""
"0000036744" "0" "90" "1" "94526212" "94526212" "subst" "1.22012E-5" "00717" "ABCA4_000075" "g.94526212G>A" "" "{PMID:Zernant 2014:25066811}" "" "" "" "Germline" "" "" "0" "" "" "g.94060656G>A" "" "pathogenic" ""
"0000036745" "0" "50" "1" "94520708" "94520708" "subst" "0.00102774" "00717" "ABCA4_000074" "g.94520708A>G" "" "{PMID:Zernant 2014:25066811}" "" "" "" "Germline" "" "" "0" "" "" "g.94055152A>G" "" "VUS" ""
"0000036746" "0" "50" "1" "94497563" "94497563" "subst" "0.00492504" "00717" "ABCA4_000090" "g.94497563C>T" "" "{PMID:Zernant 2014:25066811}" "" "" "" "Germline" "" "" "0" "" "" "g.94032007C>T" "" "VUS" ""
"0000036747" "0" "70" "1" "94510248" "94510248" "subst" "0.000544123" "00717" "ABCA4_000107" "g.94510248C>G" "" "{PMID:Zernant 2014:25066811}" "" "" "" "Germline" "" "" "0" "" "" "g.94044692C>G" "" "likely pathogenic" ""
"0000036748" "0" "70" "1" "94506910" "94506910" "subst" "4.06098E-6" "00717" "ABCA4_000105" "g.94506910A>G" "" "{PMID:Zernant 2014:25066811}" "" "" "" "Germline" "" "" "0" "" "" "g.94041354A>G" "" "likely pathogenic" ""
"0000036749" "0" "70" "1" "94510253" "94510253" "subst" "0.000247694" "00717" "ABCA4_000108" "g.94510253A>G" "" "{PMID:Zernant 2014:25066811}" "" "" "" "Germline" "" "" "0" "" "" "g.94044697A>G" "" "likely pathogenic" ""
"0000036750" "0" "50" "1" "94505604" "94505604" "subst" "0.00645586" "00717" "ABCA4_000092" "g.94505604A>C" "" "{PMID:Zernant 2014:25066811}" "" "" "" "Germline" "" "" "0" "" "" "g.94040048A>C" "" "VUS" ""
"0000036751" "0" "90" "1" "94481319" "94481319" "del" "0" "00717" "ABCA4_000098" "g.94481319del" "" "{PMID:Zernant 2014:25066811}" "" "" "" "Germline" "" "" "0" "" "" "g.94015763del" "" "pathogenic" ""
"0000036752" "0" "50" "1" "94543262" "94543262" "subst" "4.07691E-6" "00717" "ABCA4_000080" "g.94543262A>C" "" "{PMID:Zernant 2014:25066811}" "" "c.1538A>G" "" "Germline" "" "" "0" "" "" "g.94077706A>C" "" "VUS" ""
"0000036753" "0" "70" "1" "94467467" "94467467" "subst" "4.06164E-6" "00717" "ABCA4_000095" "g.94467467G>C" "" "{PMID:Zernant 2014:25066811}" "" "" "" "Germline" "" "" "0" "" "" "g.94001911G>C" "" "likely pathogenic" ""
"0000036754" "0" "30" "1" "94466624" "94466624" "subst" "0.0014345" "00717" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Zernant 2014:25066811}" "" "" "" "Germline" "" "" "0" "" "" "g.94001068C>T" "" "likely benign" ""
"0000036755" "0" "30" "1" "94466624" "94466624" "subst" "0.0014345" "00717" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Zernant 2014:25066811}" "" "" "" "Germline" "" "" "0" "" "" "g.94001068C>T" "" "likely benign" ""
"0000036756" "0" "90" "1" "94505684" "94505684" "subst" "1.73969E-5" "00717" "ABCA4_000102" "g.94505684C>T" "" "{PMID:Zernant 2014:25066811}" "" "" "" "Germline" "" "" "0" "" "" "g.94040128C>T" "" "pathogenic" ""
"0000036757" "0" "70" "1" "94510248" "94510248" "subst" "0.000544123" "00717" "ABCA4_000107" "g.94510248C>G" "" "{PMID:Zernant 2014:25066811}" "" "" "" "Germline" "" "" "0" "" "" "g.94044692C>G" "" "likely pathogenic" ""
"0000036759" "0" "50" "1" "94564350" "94564350" "subst" "9.34268E-5" "00717" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Zernant 2014:25066811}" "" "" "" "Germline" "" "" "0" "" "" "g.94098794C>A" "" "VUS" ""
"0000036760" "0" "30" "1" "94466624" "94466624" "subst" "0.0014345" "00717" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Zernant 2014:25066811}" "" "" "" "Germline" "" "" "0" "" "" "g.94001068C>T" "" "likely benign" ""
"0000036761" "0" "70" "1" "94517234" "94517234" "subst" "0" "00717" "ABCA4_000073" "g.94517234G>A" "" "{PMID:Zernant 2014:25066811}" "" "" "" "Germline" "" "" "0" "" "" "g.94051678G>A" "" "likely pathogenic" ""
"0000036762" "0" "70" "1" "94510253" "94510253" "subst" "0.000247694" "00717" "ABCA4_000108" "g.94510253A>G" "" "{PMID:Zernant 2014:25066811}" "" "" "" "Germline" "" "" "0" "" "" "g.94044697A>G" "" "likely pathogenic" ""
"0000036763" "0" "30" "1" "94466624" "94466624" "subst" "0.0014345" "00717" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Zernant 2014:25066811}" "" "" "" "Germline" "" "" "0" "" "" "g.94001068C>T" "" "likely benign" ""
"0000036764" "0" "70" "1" "94528251" "94528251" "subst" "0" "00717" "ABCA4_000077" "g.94528251C>G" "" "{PMID:Zernant 2014:25066811}" "" "" "" "Germline" "" "" "0" "" "" "g.94062695C>G" "" "likely pathogenic" ""
"0000036765" "0" "50" "1" "94505604" "94505604" "subst" "0.00645586" "00717" "ABCA4_000092" "g.94505604A>C" "" "{PMID:Zernant 2014:25066811}" "" "" "" "Germline" "" "" "0" "" "" "g.94040048A>C" "" "VUS" ""
"0000036766" "0" "70" "1" "94471025" "94471025" "subst" "0.00031698" "00717" "ABCA4_000096" "g.94471025C>T" "" "{PMID:Zernant 2014:25066811}" "" "" "" "Germline" "" "" "0" "" "" "g.94005469C>T" "" "likely pathogenic" ""
"0000036767" "0" "70" "1" "94546207" "94546207" "subst" "0.000101665" "00717" "ABCA4_000083" "g.94546207G>C" "" "{PMID:Zernant 2014:25066811}" "" "" "" "Germline" "" "" "0" "" "" "g.94080651G>C" "" "likely pathogenic" ""
"0000036768" "0" "70" "1" "94528819" "94528819" "subst" "2.03128E-5" "00717" "ABCA4_000078" "g.94528819G>A" "" "{PMID:Zernant 2014:25066811}" "" "" "" "Germline" "" "" "0" "" "" "g.94063263G>A" "" "likely pathogenic" ""
"0000036769" "0" "50" "1" "94505604" "94505604" "subst" "0.00645586" "00717" "ABCA4_000092" "g.94505604A>C" "" "{PMID:Zernant 2014:25066811}" "" "" "" "Germline" "" "" "0" "" "" "g.94040048A>C" "" "VUS" ""
"0000036770" "0" "50" "1" "94497563" "94497563" "subst" "0.00492504" "00717" "ABCA4_000090" "g.94497563C>T" "" "{PMID:Zernant 2014:25066811}" "" "" "" "Germline" "" "" "0" "" "" "g.94032007C>T" "" "VUS" ""
"0000036771" "0" "30" "1" "94466624" "94466624" "subst" "0.0014345" "00717" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Zernant 2014:25066811}" "" "" "" "Germline" "" "" "0" "" "" "g.94001068C>T" "" "likely benign" ""
"0000036772" "0" "50" "1" "94505604" "94505604" "subst" "0.00645586" "00717" "ABCA4_000092" "g.94505604A>C" "" "{PMID:Zernant 2014:25066811}" "" "" "" "Germline" "" "" "0" "" "" "g.94040048A>C" "" "VUS" ""
"0000036773" "0" "50" "1" "94476951" "94476951" "subst" "0.000236097" "00717" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Zernant 2014:25066811}" "" "" "" "Germline" "" "" "0" "" "" "g.94011395A>G" "" "VUS" ""
"0000036774" "0" "70" "1" "94471025" "94471025" "subst" "0.00031698" "00717" "ABCA4_000096" "g.94471025C>T" "" "{PMID:Zernant 2014:25066811}" "" "" "" "Germline" "" "" "0" "" "" "g.94005469C>T" "" "likely pathogenic" ""
"0000036787" "0" "50" "1" "94476951" "94476951" "subst" "0.000236097" "00717" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Zernant 2014:25066811}" "" "" "" "Germline" "" "" "0" "" "" "g.94011395A>G" "" "VUS" ""
"0000036788" "0" "70" "1" "94528836" "94528836" "subst" "6.50068E-5" "00717" "ABCA4_000079" "g.94528836T>C" "" "{PMID:Zernant 2014:25066811}" "" "" "" "Germline" "" "" "0" "" "" "g.94063280T>C" "" "likely pathogenic" ""
"0000036789" "0" "50" "1" "94497563" "94497563" "subst" "0.00492504" "00717" "ABCA4_000090" "g.94497563C>T" "" "{PMID:Zernant 2014:25066811}" "" "" "" "Germline" "" "" "0" "" "" "g.94032007C>T" "" "VUS" ""
"0000036790" "0" "70" "1" "94510248" "94510248" "subst" "0.000544123" "00717" "ABCA4_000107" "g.94510248C>G" "" "{PMID:Zernant 2014:25066811}" "" "" "" "Germline" "" "" "0" "" "" "g.94044692C>G" "" "likely pathogenic" ""
"0000036791" "0" "50" "1" "94497563" "94497563" "subst" "0.00492504" "00717" "ABCA4_000090" "g.94497563C>T" "" "{PMID:Zernant 2014:25066811}" "" "" "" "Germline" "" "" "0" "" "" "g.94032007C>T" "" "VUS" ""
"0000036792" "0" "70" "1" "94506874" "94506874" "subst" "0" "00717" "ABCA4_000104" "g.94506874A>G" "" "{PMID:Zernant 2014:25066811}" "" "" "" "Germline" "" "" "0" "" "" "g.94041318A>G" "" "likely pathogenic" ""
"0000036793" "0" "90" "1" "94495009" "94495009" "dup" "0" "00717" "ABCA4_000087" "g.94495009dup" "" "{PMID:Zernant 2014:25066811}" "" "" "" "Germline" "" "" "0" "" "" "g.94029453dup" "" "pathogenic" ""
"0000036794" "0" "70" "1" "94485278" "94485278" "subst" "0.000487317" "00717" "ABCA4_000101" "g.94485278C>T" "" "{PMID:Zernant 2014:25066811}" "" "" "" "Germline" "" "" "0" "" "" "g.94019722C>T" "" "likely pathogenic" ""
"0000036795" "0" "50" "1" "94505604" "94505604" "subst" "0.00645586" "00717" "ABCA4_000092" "g.94505604A>C" "" "{PMID:Zernant 2014:25066811}" "" "" "" "Germline" "" "" "0" "" "" "g.94040048A>C" "" "VUS" ""
"0000036796" "0" "70" "1" "94486896" "94486896" "subst" "3.65562E-5" "00717" "ABCA4_000085" "g.94486896G>A" "" "{PMID:Zernant 2014:25066811}" "" "" "" "Germline" "" "" "0" "" "" "g.94021340G>A" "" "likely pathogenic" ""
"0000036797" "0" "50" "1" "94485257" "94485257" "subst" "0.00017945" "00717" "ABCA4_000100" "g.94485257C>T" "" "{PMID:Zernant 2014:25066811}" "" "" "" "Germline" "" "" "0" "" "" "g.94019701C>T" "" "VUS" ""
"0000036798" "0" "70" "1" "94510272" "94510272" "subst" "4.06062E-6" "00717" "ABCA4_000070" "g.94510272T>C" "" "{PMID:Zernant 2014:25066811}" "" "" "" "Germline" "" "" "0" "" "" "g.94044716T>C" "" "likely pathogenic" ""
"0000036799" "0" "70" "1" "94485148" "94485148" "subst" "4.27562E-6" "00717" "ABCA4_000099" "g.94485148A>G" "" "{PMID:Zernant 2014:25066811}" "" "" "" "Germline" "" "" "0" "" "" "g.94019592A>G" "" "likely pathogenic" ""
"0000036800" "3" "70" "1" "94510253" "94510253" "subst" "0.000247694" "00717" "ABCA4_000108" "g.94510253A>G" "" "{PMID:Zernant 2014:25066811}" "" "" "" "Germline" "" "" "0" "" "" "g.94044697A>G" "" "likely pathogenic" ""
"0000036801" "0" "50" "1" "94528143" "94528143" "subst" "0.00124448" "00717" "ABCA4_000076" "g.94528143C>T" "" "{PMID:Zernant 2014:25066811}" "" "" "" "Germline" "" "" "0" "" "" "g.94062587C>T" "" "VUS" ""
"0000036802" "0" "70" "1" "94512499" "94512499" "subst" "0.000130029" "00717" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Zernant 2014:25066811}" "" "" "" "Germline" "" "" "0" "" "" "g.94046943T>C" "" "likely pathogenic" ""
"0000036803" "0" "50" "1" "94506871" "94506871" "subst" "7.30964E-5" "00717" "ABCA4_000103" "g.94506871T>C" "" "{PMID:Zernant 2014:25066811}" "" "c.3416T>C" "" "Germline" "" "" "0" "" "" "g.94041315T>C" "" "VUS" ""
"0000036804" "0" "50" "1" "94505604" "94505604" "subst" "0.00645586" "00717" "ABCA4_000092" "g.94505604A>C" "" "{PMID:Zernant 2014:25066811}" "" "" "" "Germline" "" "" "0" "" "" "g.94040048A>C" "" "VUS" ""
"0000036805" "0" "70" "1" "94471025" "94471025" "subst" "0.00031698" "00717" "ABCA4_000096" "g.94471025C>T" "" "{PMID:Zernant 2014:25066811}" "" "" "" "Germline" "" "" "0" "" "" "g.94005469C>T" "" "likely pathogenic" ""
"0000036806" "0" "50" "1" "94505604" "94505604" "subst" "0.00645586" "00717" "ABCA4_000092" "g.94505604A>C" "" "{PMID:Zernant 2014:25066811}" "" "" "" "Germline" "" "" "0" "" "" "g.94040048A>C" "" "VUS" ""
"0000036807" "0" "90" "1" "94490606" "94490606" "subst" "4.06091E-6" "00717" "ABCA4_000086" "g.94490606T>C" "" "{PMID:Zernant 2014:25066811}" "" "" "" "Germline" "" "" "0" "" "" "g.94025050T>C" "" "pathogenic" ""
"0000036808" "0" "30" "1" "94466624" "94466624" "subst" "0.0014345" "00717" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Zernant 2014:25066811}" "" "" "" "Germline" "" "" "0" "" "" "g.94001068C>T" "" "likely benign" ""
"0000036809" "0" "50" "1" "94476951" "94476951" "subst" "0.000236097" "00717" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Zernant 2014:25066811}" "" "" "" "Germline" "" "" "0" "" "" "g.94011395A>G" "" "VUS" ""
"0000036810" "0" "50" "1" "94505604" "94505604" "subst" "0.00645586" "00717" "ABCA4_000092" "g.94505604A>C" "" "{PMID:Zernant 2014:25066811}" "" "" "" "Germline" "" "" "0" "" "" "g.94040048A>C" "" "VUS" ""
"0000036811" "0" "70" "1" "94510176" "94510176" "subst" "0" "00717" "ABCA4_000106" "g.94510176A>G" "" "{PMID:Zernant 2014:25066811}" "" "" "" "Germline" "" "" "0" "" "" "g.94044620A>G" "" "likely pathogenic" ""
"0000036812" "0" "90" "1" "94497564" "94497564" "subst" "1.64383E-5" "00717" "ABCA4_000091" "g.94497564G>A" "" "{PMID:Zernant 2014:25066811}" "" "" "" "Germline" "" "" "0" "" "" "g.94032008G>A" "" "pathogenic" ""
"0000036813" "0" "70" "1" "94466628" "94466628" "subst" "0.000109748" "00717" "ABCA4_000094" "g.94466628G>A" "" "{PMID:Zernant 2014:25066811}" "" "" "" "Germline" "" "" "0" "" "" "g.94001072G>A" "" "likely pathogenic" ""
"0000036814" "0" "30" "1" "94466624" "94466624" "subst" "0.0014345" "00717" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Zernant 2014:25066811}" "" "" "" "Germline" "" "" "0" "" "" "g.94001068C>T" "" "likely benign" ""
"0000036815" "0" "30" "1" "94466624" "94466624" "subst" "0.0014345" "00717" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Zernant 2014:25066811}" "" "" "" "Germline" "" "" "0" "" "" "g.94001068C>T" "" "likely benign" ""
"0000036816" "0" "30" "1" "94466624" "94466624" "subst" "0.0014345" "00717" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Zernant 2014:25066811}" "" "" "" "Germline" "" "" "0" "" "" "g.94001068C>T" "" "likely benign" ""
"0000036817" "0" "70" "1" "94546118" "94546118" "subst" "8.13326E-6" "00717" "ABCA4_000082" "g.94546118A>C" "" "{PMID:Zernant 2014:25066811}" "" "" "" "Germline" "" "" "0" "" "" "g.94080562A>C" "" "likely pathogenic" ""
"0000036818" "0" "30" "1" "94466624" "94466624" "subst" "0.0014345" "00717" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Zernant 2014:25066811}" "" "" "" "Germline" "" "" "0" "" "" "g.94001068C>T" "" "likely benign" ""
"0000036819" "0" "50" "1" "94497563" "94497563" "subst" "0.00492504" "00717" "ABCA4_000090" "g.94497563C>T" "" "{PMID:Zernant 2014:25066811}" "" "" "" "Germline" "" "" "0" "" "" "g.94032007C>T" "" "VUS" ""
"0000036820" "0" "50" "1" "94486889" "94486889" "subst" "0" "00717" "ABCA4_000084" "g.94486889G>T" "" "{PMID:Zernant 2014:25066811}" "" "c.4925C>A" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.94021333G>T" "" "VUS" ""
"0000036821" "0" "70" "1" "94510294" "94510294" "subst" "0" "00717" "ABCA4_000071" "g.94510294G>C" "" "{PMID:Zernant 2014:25066811}" "" "c.2925G>C" "" "Germline" "" "" "0" "" "" "g.94044738G>C" "" "likely pathogenic" ""
"0000036822" "0" "70" "1" "94473263" "94473263" "subst" "0" "00717" "ABCA4_000097" "g.94473263T>C" "" "{PMID:Zernant 2014:25066811}" "" "c.5932T>C" "" "Germline" "" "" "0" "" "" "g.94007707T>C" "" "likely pathogenic" ""
"0000036823" "0" "70" "1" "94510253" "94510253" "subst" "0.000247694" "00717" "ABCA4_000108" "g.94510253A>G" "" "{PMID:Zernant 2014:25066811}" "" "" "" "Germline" "" "" "0" "" "" "g.94044697A>G" "" "likely pathogenic" ""
"0000036824" "0" "90" "1" "94576993" "94576993" "subst" "2.03513E-5" "00717" "ABCA4_000069" "g.94576993C>T" "" "{PMID:Zernant 2014:25066811}" "" "" "" "Germline" "" "" "0" "" "" "g.94111437C>T" "" "pathogenic" ""
"0000036825" "0" "30" "1" "94466624" "94466624" "subst" "0.0014345" "00717" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Zernant 2014:25066811}" "" "" "" "Germline" "" "" "0" "" "" "g.94001068C>T" "" "likely benign" ""
"0000036826" "3" "50" "1" "94505604" "94505604" "subst" "0.00645586" "00717" "ABCA4_000092" "g.94505604A>C" "" "{PMID:Zernant 2014:25066811}" "" "" "" "Germline" "" "" "0" "" "" "g.94040048A>C" "" "VUS" ""
"0000036827" "3" "30" "1" "94466624" "94466624" "subst" "0.0014345" "00717" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Zernant 2014:25066811}" "" "" "" "Germline" "" "" "0" "" "" "g.94001068C>T" "" "likely benign" ""
"0000036828" "0" "50" "1" "94486889" "94486889" "subst" "0" "00717" "ABCA4_000084" "g.94486889G>T" "" "{PMID:Zernant 2014:25066811}" "" "c.4925C>A" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.94021333G>T" "" "VUS" ""
"0000036829" "0" "70" "1" "94510253" "94510253" "subst" "0.000247694" "00717" "ABCA4_000108" "g.94510253A>G" "" "{PMID:Zernant 2014:25066811}" "" "" "" "Germline" "" "" "0" "" "" "g.94044697A>G" "" "likely pathogenic" ""
"0000036830" "0" "50" "1" "94496548" "94496548" "subst" "2.43787E-5" "00717" "ABCA4_000088" "g.94496548G>A" "" "{PMID:Zernant 2014:25066811}" "" "" "" "Germline" "" "" "0" "" "" "g.94030992G>A" "" "VUS" ""
"0000036831" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00717" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Zernant 2014:25066811}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000036832" "0" "30" "1" "94466624" "94466624" "subst" "0.0014345" "00717" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Zernant 2014:25066811}" "" "" "" "Germline" "" "" "0" "" "" "g.94001068C>T" "" "likely benign" ""
"0000058964" "1" "50" "1" "94473846" "94473846" "subst" "0.0315833" "00229" "ABCA4_000001" "g.94473846G>A" "" "{PMID:Neveling 2012:22334370}" "" "" "" "Germline" "no" "" "0" "" "" "g.94008290G>A" "" "VUS" ""
"0000058965" "1" "50" "1" "94473846" "94473846" "subst" "0.0315833" "00229" "ABCA4_000001" "g.94473846G>A" "" "{PMID:Neveling 2012:22334370}" "" "" "predicted unknown effect on function, present at significant fraction in Exome Variant Server" "Germline" "yes" "" "0" "" "" "g.94008290G>A" "" "VUS" ""
"0000058966" "2" "50" "1" "94473846" "94473846" "subst" "0.0315833" "00229" "ABCA4_000001" "g.94473846G>A" "" "{PMID:Neveling 2012:22334370}" "" "" "predicted unknown effect on function, present at significant fraction in Exome Variant Server" "Germline" "yes" "" "0" "" "" "g.94008290G>A" "" "VUS" ""
"0000058967" "1" "10" "1" "94512565" "94512565" "subst" "0.030364" "00229" "ABCA4_000002" "g.94512565C>T" "" "{PMID:Neveling 2012:22334370}" "" "" "predicted benign" "Germline" "yes" "" "0" "" "" "g.94047009C>T" "" "benign" ""
"0000058968" "1" "10" "1" "94512565" "94512565" "subst" "0.030364" "00229" "ABCA4_000002" "g.94512565C>T" "" "{PMID:Neveling 2012:22334370}" "" "" "predicted benign" "Germline" "no" "" "0" "" "" "g.94047009C>T" "" "benign" ""
"0000058969" "1" "10" "1" "94461717" "94461717" "subst" "0.0703199" "00229" "ABCA4_000003" "g.94461717C>A" "" "{PMID:Neveling 2012:22334370}" "" "" "predicted benign" "Germline" "yes" "" "0" "" "" "g.93996161C>A" "" "benign" ""
"0000058970" "1" "10" "1" "94461717" "94461717" "subst" "0.0703199" "00229" "ABCA4_000003" "g.94461717C>A" "" "{PMID:Neveling 2012:22334370}" "" "" "predicted benign" "Germline" "no" "" "0" "" "" "g.93996161C>A" "" "benign" ""
"0000058971" "1" "70" "1" "94543278" "94543278" "subst" "0.000178952" "00229" "ABCA4_000004" "g.94543278G>A" "" "{PMID:Neveling 2012:22334370}" "" "" "predicted to affect function, but insufficient evidence for definite conclusion" "Germline" "no" "" "0" "" "" "g.94077722G>A" "" "likely pathogenic" ""
"0000058972" "1" "70" "1" "94480178" "94480178" "subst" "2.43692E-5" "00229" "ABCA4_000005" "g.94480178G>T" "" "{PMID:Neveling 2012:22334370}" "" "" "predicted to affect function, but insufficient evidence for definite conclusion" "Germline" "no" "" "0" "" "" "g.94014622G>T" "" "likely pathogenic" ""
"0000058973" "0" "70" "1" "94480178" "94480178" "subst" "2.43692E-5" "01247" "ABCA4_000005" "g.94480178G>T" "" "{PMID:Bax 2014:25363634}" "" "" "" "Unknown" "?" "" "0" "" "" "g.94014622G>T" "" "likely pathogenic" ""
"0000058974" "1" "70" "1" "94508454" "94508456" "del" "0" "00229" "ABCA4_000006" "g.94508454_94508456del" "" "{PMID:Neveling 2012:22334370}" "" "" "predicted to affect function, but insufficient evidence for definite conclusion" "Germline" "yes" "" "0" "" "" "g.94042898_94042900del" "" "likely pathogenic" ""
"0000058975" "2" "10" "1" "94476467" "94476467" "subst" "0.0424562" "00229" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Neveling 2012:22334370}" "" "" "predicted benign" "Germline" "yes" "" "0" "" "" "g.94010911T>A" "" "benign" ""
"0000058976" "2" "50" "1" "94514466" "94514466" "subst" "0.00192081" "00229" "ABCA4_000008" "g.94514466T>C" "" "{PMID:Neveling 2012:22334370}" "" "" "" "Germline" "no" "" "0" "" "" "g.94048910T>C" "" "VUS" ""
"0000058977" "1" "10" "1" "94564483" "94564483" "subst" "0.0409724" "00229" "ABCA4_000009" "g.94564483C>T" "" "{PMID:Neveling 2012:22334370}" "" "" "predicted benign" "Germline" "no" "" "0" "" "" "g.94098927C>T" "" "benign" ""
"0000058978" "1" "90" "1" "94543246" "94543246" "subst" "0" "00229" "ABCA4_000010" "g.94543246C>T" "" "{PMID:Neveling 2012:22334370}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94077690C>T" "" "pathogenic" ""
"0000058979" "2" "90" "1" "94496084" "94496084" "subst" "0" "00229" "ABCA4_000011" "g.94496084T>C" "" "{PMID:Neveling 2012:22334370}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94030528T>C" "" "pathogenic" ""
"0000058980" "2" "70" "1" "94463617" "94463617" "subst" "0.0109114" "00229" "ABCA4_000013" "g.94463617C>T" "" "{PMID:Neveling 2012:22334370}" "" "" "predicted to affect function, but insufficient evidence for definite conclusion" "Germline" "no" "" "0" "" "" "g.93998061C>T" "" "likely pathogenic" ""
"0000058981" "1" "90" "1" "94496020" "94496020" "subst" "8.12143E-6" "00039" "ABCA4_000014" "g.94496020C>T" "" "{PMID:Abu-Safieh-2013:23105016}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94030464C>T" "" "pathogenic" ""
"0000058982" "2" "90" "1" "94496020" "94496020" "subst" "8.12143E-6" "00039" "ABCA4_000014" "g.94496020C>T" "" "{PMID:Abu-Safieh-2013:23105016}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94030464C>T" "" "pathogenic" ""
"0000058983" "1" "70" "1" "94493000" "94493000" "subst" "0" "01245" "ABCA4_000015" "g.94493000C>T" "" "{PMID:Bauwens 2014:25346251}" "" "V4" "deep intronic splice variant, first identified by Braun (2013)" "Germline" "yes" "" "0" "" "" "g.94027444C>T" "" "likely pathogenic" ""
"0000058984" "1" "70" "1" "94493000" "94493000" "subst" "0" "01245" "ABCA4_000015" "g.94493000C>T" "" "{PMID:Bauwens 2014:25346251}" "" "" "deep intronic splice variant, first identified by Braun (2013)" "Germline" "yes" "" "0" "" "" "g.94027444C>T" "" "likely pathogenic" ""
"0000058985" "1" "70" "1" "94493000" "94493000" "subst" "0" "00006" "ABCA4_000015" "g.94493000C>T" "" "{PMID:Braun 2013:23918662}" "" "" "not in 600 control chromosomes" "Germline" "yes" "" "0" "" "" "g.94027444C>T" "" "likely pathogenic" ""
"0000058986" "0" "70" "1" "94493000" "94493000" "subst" "0" "01247" "ABCA4_000015" "g.94493000C>T" "" "{PMID:Bax 2014:25363634}" "" "" "" "Unknown" "" "" "0" "" "" "g.94027444C>T" "" "likely pathogenic" ""
"0000058987" "0" "50" "1" "94493000" "94493000" "subst" "0" "01247" "ABCA4_000015" "g.94493000C>T" "" "{PMID:Bax 2014:25363634}" "" "" "" "Unknown" "?" "" "0" "" "" "g.94027444C>T" "" "VUS" ""
"0000058988" "21" "50" "1" "94493000" "94493000" "subst" "0" "01247" "ABCA4_000015" "g.94493000C>T" "" "{PMID:Bax 2014:25363634}" "" "V4" "" "Germline" "" "" "0" "" "" "g.94027444C>T" "" "VUS" ""
"0000058989" "21" "50" "1" "94493000" "94493000" "subst" "0" "01247" "ABCA4_000015" "g.94493000C>T" "" "{PMID:Bax 2014:25363634}" "" "V4" "" "Germline" "yes" "" "0" "" "" "g.94027444C>T" "" "VUS" ""
"0000058990" "1" "70" "1" "94493000" "94493000" "subst" "0" "01247" "ABCA4_000015" "g.94493000C>T" "" "{PMID:Bax 2014:25363634}" "" "V4" "" "Germline" "yes" "" "0" "" "" "g.94027444C>T" "" "likely pathogenic" ""
"0000058993" "1" "70" "1" "94484001" "94484001" "subst" "0" "01245" "ABCA4_000016" "g.94484001C>T" "" "{PMID:Bauwens 2014:25346251}" "" "" "" "Germline" "?" "" "0" "" "" "g.94018445C>T" "" "likely pathogenic" ""
"0000058994" "21" "90" "1" "94484001" "94484001" "subst" "0" "00006" "ABCA4_000016" "g.94484001C>T" "" "{PMID:Braun 2013:23918662}" "" "" "not in 600 control chromosomes" "Germline" "yes" "" "0" "" "" "g.94018445C>T" "" "pathogenic" ""
"0000058995" "21" "90" "1" "94484001" "94484001" "subst" "0" "00006" "ABCA4_000016" "g.94484001C>T" "" "{PMID:Braun 2013:23918662}" "" "" "not in 600 control chromosomes" "Germline" "yes" "" "0" "" "" "g.94018445C>T" "" "pathogenic" ""
"0000058996" "10" "90" "1" "94484001" "94484001" "subst" "0" "00006" "ABCA4_000016" "g.94484001C>T" "" "{PMID:Braun 2013:23918662}" "" "" "not in 600 control chromosomes" "Germline" "yes" "" "0" "" "" "g.94018445C>T" "" "pathogenic" ""
"0000058997" "21" "90" "1" "94484001" "94484001" "subst" "0" "00006" "ABCA4_000016" "g.94484001C>T" "" "{PMID:Braun 2013:23918662}, {PMID:Schindler 2010:20647261}" "" "" "not in 600 control chromosomes" "Germline" "yes" "" "0" "" "" "g.94018445C>T" "" "pathogenic" ""
"0000058998" "1" "90" "1" "94484001" "94484001" "subst" "0" "00006" "ABCA4_000016" "g.94484001C>T" "" "{PMID:Braun 2013:23918662}" "" "" "not in 600 control chromosomes" "Germline" "yes" "" "0" "" "" "g.94018445C>T" "" "pathogenic" ""
"0000058999" "1" "90" "1" "94484001" "94484001" "subst" "0" "00006" "ABCA4_000016" "g.94484001C>T" "" "{PMID:Braun 2013:23918662}" "" "" "not in 600 control chromosomes" "Germline" "yes" "" "0" "" "" "g.94018445C>T" "" "pathogenic" ""
"0000059000" "11" "90" "1" "94484001" "94484001" "subst" "0" "00006" "ABCA4_000016" "g.94484001C>T" "" "{PMID:Braun 2013:23918662}" "" "" "not in 600 control chromosomes" "Germline" "yes" "" "0" "" "" "g.94018445C>T" "" "pathogenic" ""
"0000059001" "21" "90" "1" "94484001" "94484001" "subst" "0" "00006" "ABCA4_000016" "g.94484001C>T" "" "{PMID:Braun 2013:23918662}" "" "" "not in 600 control chromosomes" "Germline" "yes" "" "0" "" "" "g.94018445C>T" "" "pathogenic" ""
"0000059002" "21" "70" "1" "94484002" "94484002" "subst" "0" "01245" "ABCA4_000017" "g.94484002G>T" "" "{PMID:Bauwens 2014:25346251}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94018446G>T" "" "likely pathogenic" ""
"0000059003" "1" "70" "1" "94483979" "94483979" "subst" "0" "01245" "ABCA4_000018" "g.94483979C>T" "" "{PMID:Bauwens 2014:25346251}" "" "" "no 2nd variant identified" "Germline" "?" "" "0" "" "" "g.94018423C>T" "" "likely pathogenic" ""
"0000059004" "11" "90" "1" "94496666" "94496666" "subst" "0.000219568" "00006" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Braun 2013:23918662}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94031110G>A" "" "pathogenic" ""
"0000059005" "11" "50" "1" "94528806" "94528806" "subst" "0.000150298" "00006" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Braun 2013:23918662}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94063250A>G" "" "VUS" ""
"0000059006" "21" "50" "1" "94528806" "94528806" "subst" "0.000150298" "00006" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Braun 2013:23918662}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94063250A>G" "" "VUS" ""
"0000059007" "2" "50" "1" "94528806" "94528806" "subst" "0.000150298" "00006" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Braun 2013:23918662}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94063250A>G" "" "VUS" ""
"0000059008" "21" "50" "1" "94528806" "94528806" "subst" "0.000150298" "00006" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Braun 2013:23918662}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94063250A>G" "" "VUS" ""
"0000059009" "11" "90" "1" "94508969" "94508969" "subst" "0.00168642" "00006" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Braun 2013:23918662}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94043413G>A" "" "pathogenic" ""
"0000059010" "21" "90" "1" "94508969" "94508969" "subst" "0.00168642" "00006" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Braun 2013:23918662}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94043413G>A" "" "pathogenic" ""
"0000059011" "2" "90" "1" "94508969" "94508969" "subst" "0.00168642" "00006" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Braun 2013:23918662}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94043413G>A" "" "pathogenic" ""
"0000059012" "21" "90" "1" "94508969" "94508969" "subst" "0.00168642" "00006" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Braun 2013:23918662}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94043413G>A" "" "pathogenic" ""
"0000059013" "21" "90" "1" "94508969" "94508969" "subst" "0.00168642" "00006" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Braun 2013:23918662}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94043413G>A" "" "pathogenic" ""
"0000059014" "10" "90" "1" "94546098" "94546111" "del" "0" "00006" "ABCA4_000022" "g.94546098_94546111del" "" "{PMID:Braun 2013:23918662}, {PMID:Schindler 2010:20647261}" "" "1022_1035fs" "" "Germline" "yes" "" "0" "" "" "g.94080542_94080555del" "" "pathogenic" ""
"0000059015" "2" "90" "1" "94495177" "94495177" "subst" "1.22342E-5" "00006" "ABCA4_000023" "g.94495177A>G" "" "{PMID:Braun 2013:23918662}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94029621A>G" "" "pathogenic" ""
"0000059016" "2" "90" "1" "94568687" "94568687" "subst" "1.62641E-5" "00006" "ABCA4_000024" "g.94568687G>A" "" "{PMID:Braun 2013:23918662}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94103131G>A" "" "pathogenic" ""
"0000059017" "21" "90" "1" "94476951" "94476951" "subst" "0.000236097" "00006" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Braun 2013:23918662}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94011395A>G" "" "pathogenic" ""
"0000059018" "2" "90" "1" "94476951" "94476951" "subst" "0.000236097" "00006" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Braun 2013:23918662}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94011395A>G" "" "pathogenic" ""
"0000059019" "11" "90" "1" "94476951" "94476951" "subst" "0.000236097" "00006" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Braun 2013:23918662}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94011395A>G" "" "pathogenic" ""
"0000059020" "0" "70" "1" "94476951" "94476951" "subst" "0.000236097" "01247" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Bax 2014:25363634}" "" "" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "likely pathogenic" ""
"0000059021" "21" "70" "1" "94476951" "94476951" "subst" "0.000236097" "01247" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Bax 2014:25363634}" "" "" "" "Germline" "" "" "0" "" "" "g.94011395A>G" "" "likely pathogenic" ""
"0000059023" "11" "90" "1" "94490567" "94490567" "subst" "5.68528E-5" "00006" "ABCA4_000026" "g.94490567G>A" "" "{PMID:Braun 2013:23918662}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94025011G>A" "" "pathogenic" ""
"0000059024" "11" "90" "1" "94490567" "94490567" "subst" "5.68528E-5" "00006" "ABCA4_000026" "g.94490567G>A" "" "{PMID:Braun 2013:23918662}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94025011G>A" "" "pathogenic" ""
"0000059025" "2" "90" "1" "94490567" "94490567" "subst" "5.68528E-5" "00006" "ABCA4_000026" "g.94490567G>A" "" "{PMID:Braun 2013:23918662}" "" "" "" "Unknown" "yes" "" "0" "" "" "g.94025011G>A" "" "pathogenic" ""
"0000059026" "1" "90" "1" "94483922" "94483922" "subst" "0" "00006" "ABCA4_000027" "g.94483922G>T" "" "{PMID:Braun 2013:23918662}" "" "" "not in 600 control chromosomes" "Germline" "yes" "" "0" "" "" "g.94018366G>T" "" "pathogenic" ""
"0000059027" "11" "90" "1" "94484082" "94484082" "subst" "0" "00006" "ABCA4_000028" "g.94484082T>C" "" "{PMID:Braun 2013:23918662}" "" "" "not in 600 control chromosomes" "Germline" "yes" "" "0" "" "" "g.94018526T>C" "" "pathogenic" ""
"0000059028" "2" "90" "1" "94471055" "94471055" "subst" "0.00035346" "00006" "ABCA4_000029" "g.94471055C>T" "" "{PMID:Braun 2013:23918662}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94005499C>T" "" "pathogenic" ""
"0000059029" "1" "70" "1" "94492973" "94492973" "subst" "0" "00006" "ABCA4_000030" "g.94492973G>A" "" "{PMID:Braun 2013:23918662}" "" "" "1/600 control chromosomes" "Germline" "yes" "" "0" "" "" "g.94027417G>A" "" "likely pathogenic" ""
"0000059030" "21" "70" "1" "94492973" "94492973" "subst" "0" "00006" "ABCA4_000030" "g.94492973G>A" "" "{PMID:Braun 2013:23918662}" "" "" "1/600 control chromosomes" "Germline" "yes" "" "0" "" "" "g.94027417G>A" "" "likely pathogenic" ""
"0000059031" "21" "70" "1" "94492973" "94492973" "subst" "0" "00006" "ABCA4_000030" "g.94492973G>A" "" "{PMID:Braun 2013:23918662}" "" "" "1/600 control chromosomes" "Germline" "yes" "" "0" "" "" "g.94027417G>A" "" "likely pathogenic" ""
"0000059032" "21" "70" "1" "94492973" "94492973" "subst" "0" "00006" "ABCA4_000030" "g.94492973G>A" "" "{PMID:Braun 2013:23918662}" "" "" "1/600 control chromosomes" "Germline" "yes" "" "0" "" "" "g.94027417G>A" "" "likely pathogenic" ""
"0000059033" "1" "70" "1" "94492973" "94492973" "subst" "0" "00006" "ABCA4_000030" "g.94492973G>A" "" "{PMID:Braun 2013:23918662}" "" "" "1/600 control chromosomes" "Unknown" "yes" "" "0" "" "" "g.94027417G>A" "" "likely pathogenic" ""
"0000059034" "1" "70" "1" "94492973" "94492973" "subst" "0" "00006" "ABCA4_000030" "g.94492973G>A" "" "{PMID:Braun 2013:23918662}" "" "" "1/600 control chromosomes" "Unknown" "yes" "" "0" "" "" "g.94027417G>A" "" "likely pathogenic" ""
"0000059035" "1" "70" "1" "94492973" "94492973" "subst" "0" "00006" "ABCA4_000030" "g.94492973G>A" "" "{PMID:Braun 2013:23918662}" "" "" "1/600 control chromosomes" "Unknown" "yes" "" "0" "" "" "g.94027417G>A" "" "likely pathogenic" ""
"0000059036" "11" "90" "1" "94508323" "94508323" "subst" "0.000125953" "00006" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Braun 2013:23918662}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94042767G>A" "" "pathogenic" ""
"0000059037" "2" "90" "1" "94577102" "94577102" "subst" "4.06161E-6" "00006" "ABCA4_000033" "g.94577102C>T" "" "{PMID:Braun 2013:23918662}" "" "" "" "Unknown" "yes" "" "0" "" "" "g.94111546C>T" "" "pathogenic" ""
"0000059038" "1" "90" "1" "94517254" "94517254" "subst" "0.00442654" "00006" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Braun 2013:23918662}" "" "" "" "Unknown" "yes" "rs76157638" "0" "" "" "g.94051698C>G" "" "pathogenic" ""
"0000059039" "21" "90" "1" "94517254" "94517254" "subst" "0.00442654" "00006" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Braun 2013:23918662}" "" "" "" "Germline" "yes" "rs76157638" "0" "" "" "g.94051698C>G" "" "pathogenic" ""
"0000059040" "2" "90" "1" "94466602" "94466602" "subst" "1.62472E-5" "00006" "ABCA4_000035" "g.94466602C>T" "" "{PMID:Braun 2013:23918662}" "" "V2114V" "" "Unknown" "yes" "" "0" "" "" "g.94001046C>T" "" "pathogenic" ""
"0000059041" "11" "90" "1" "94466602" "94466602" "subst" "1.62472E-5" "00006" "ABCA4_000035" "g.94466602C>T" "" "{PMID:Braun 2013:23918662}" "" "V2114V" "" "Unknown" "yes" "" "0" "" "" "g.94001046C>T" "" "pathogenic" ""
"0000059042" "10" "90" "1" "94466602" "94466602" "subst" "1.62472E-5" "00006" "ABCA4_000035" "g.94466602C>T" "" "{PMID:Braun 2013:23918662}" "" "V2114V" "" "Unknown" "yes" "" "0" "" "" "g.94001046C>T" "" "pathogenic" ""
"0000059043" "2" "90" "1" "94564484" "94564484" "subst" "0.000110199" "00006" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Braun 2013:23918662}" "" "" "" "Unknown" "yes" "" "0" "" "" "g.94098928G>A" "" "pathogenic" ""
"0000059044" "21" "90" "1" "94586550" "94586550" "subst" "1.21864E-5" "00006" "ABCA4_000037" "g.94586550G>A" "" "{PMID:Braun 2013:23918662}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94120994G>A" "" "pathogenic" ""
"0000059045" "11" "90" "1" "94487399" "94487399" "subst" "7.30959E-5" "00006" "ABCA4_000038" "g.94487399T>C" "" "{PMID:Braun 2013:23918662}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94021843T>C" "" "pathogenic" ""
"0000059046" "21" "90" "1" "94487399" "94487399" "subst" "7.30959E-5" "00006" "ABCA4_000038" "g.94487399T>C" "" "{PMID:Braun 2013:23918662}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94021843T>C" "" "pathogenic" ""
"0000059047" "21" "90" "1" "94487399" "94487399" "subst" "7.30959E-5" "00006" "ABCA4_000038" "g.94487399T>C" "" "{PMID:Braun 2013:23918662}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94021843T>C" "" "pathogenic" ""
"0000059048" "11" "50" "1" "94486944" "94486944" "subst" "0" "00006" "ABCA4_000039" "g.94486944A>C" "" "{PMID:Braun 2013:23918662}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94021388A>C" "" "VUS" ""
"0000059049" "11" "50" "1" "94574256" "94574256" "subst" "2.8425E-5" "00006" "ABCA4_000040" "g.94574256G>A" "" "{PMID:Braun 2013:23918662}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94108700G>A" "" "VUS" ""
"0000059050" "1" "90" "1" "94508316" "94510301" "del" "0" "01247" "ABCA4_000041" "g.(94506959_94508316)_(94510301_94512474)del" "" "{PMID:Bax 2014:25363634}" "" "" "" "Germline" "" "" "0" "" "" "g.(94041403_94042760)_(94044745_94046918)del" "" "pathogenic" ""
"0000059051" "11" "90" "1" "94508316" "94510301" "del" "0" "01247" "ABCA4_000041" "g.(94506959_94508316)_(94510301_94512474)del" "" "{PMID:Bax 2014:25363634}" "" "" "" "Germline" "" "" "0" "" "" "g.(94041403_94042760)_(94044745_94046918)del" "" "pathogenic" ""
"0000059052" "11" "90" "1" "94508316" "94510301" "del" "0" "01247" "ABCA4_000041" "g.(94506959_94508316)_(94510301_94512474)del" "" "{PMID:Bax 2014:25363634}" "" "" "" "Germline" "" "" "0" "" "" "g.(94041403_94042760)_(94044745_94046918)del" "" "pathogenic" ""
"0000059053" "11" "90" "1" "94508316" "94510301" "del" "0" "01247" "ABCA4_000041" "g.(94506959_94508316)_(94510301_94512474)del" "" "{PMID:Bax 2014:25363634}" "" "" "unknown variant on 2nd chromosome" "Germline" "" "" "0" "" "" "g.(94041403_94042760)_(94044745_94046918)del" "" "pathogenic" ""
"0000059056" "0" "50" "1" "94495078" "94495078" "subst" "8.37044E-6" "01247" "ABCA4_000042" "g.94495078A>G" "" "{PMID:Bax 2014:25363634}" "" "" "" "Germline" "" "" "0" "" "" "g.94029522A>G" "" "VUS" ""
"0000059057" "2" "70" "1" "94484001" "94484001" "subst" "0" "01247" "ABCA4_000016" "g.94484001C>T" "" "{PMID:Bax 2014:25363634}" "" "5196+1137G>T" "" "Germline" "" "" "0" "" "" "g.94018445C>T" "" "likely pathogenic" ""
"0000059058" "0" "50" "1" "94484001" "94484001" "subst" "0" "01247" "ABCA4_000016" "g.94484001C>T" "" "{PMID:Bax 2014:25363634}" "" "5196+1137G>T" "" "Unknown" "" "" "0" "" "" "g.94018445C>T" "" "VUS" ""
"0000059059" "11" "70" "1" "94486922" "94486922" "subst" "0" "01247" "ABCA4_000044" "g.94486922A>G" "" "{PMID:Bax 2014:25363634}" "" "" "" "Germline" "" "" "0" "" "" "g.94021366A>G" "" "likely pathogenic" ""
"0000059061" "21" "70" "1" "94564350" "94564350" "subst" "9.34268E-5" "01247" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Bax 2014:25363634}" "" "" "" "Germline" "" "" "0" "" "" "g.94098794C>A" "" "likely pathogenic" ""
"0000059062" "1" "70" "1" "94564350" "94564350" "subst" "9.34268E-5" "01247" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Bax 2014:25363634}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94098794C>A" "" "likely pathogenic" ""
"0000059064" "11" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01247" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Bax 2014:25363634}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "pathogenic" ""
"0000059065" "2" "90" "1" "94568570" "94568699" "del" "0" "01247" "ABCA4_000047" "g.(94564548_94568570)_(94568699_94574132)del" "" "{PMID:Bax 2014:25363634}" "" "" "" "Germline" "yes" "" "0" "" "" "g.(94098992_94103014)_(94103143_94108576)del" "" "pathogenic" ""
"0000059067" "2" "50" "1" "94476812" "94476812" "subst" "0" "01247" "ABCA4_000048" "g.94476812A>G" "" "{PMID:Bax 2014:25363634}" "" "" "" "Germline" "?" "" "0" "" "" "g.94011256A>G" "" "VUS" ""
"0000059069" "0" "90" "1" "94497588" "94497588" "subst" "4.153E-6" "01247" "ABCA4_000049" "g.94497588G>A" "" "{PMID:Bax 2014:25363634}" "" "" "" "Unknown" "" "" "0" "" "" "g.94032032G>A" "" "pathogenic" ""
"0000059070" "2" "77" "1" "94577121" "94577121" "subst" "0" "01248" "ABCA4_000062" "g.94577121T>C" "1/184" "{PMID:Sciezyiska 2015:26593885}" "" "" "" "Germline" "" "" "0" "" "" "g.94111565T>C" "" "likely pathogenic" ""
"0000059071" "2" "70" "1" "94544159" "94544159" "subst" "2.03079E-5" "01248" "ABCA4_000063" "g.94544159A>T" "" "{PMID:Sciezyiska 2015:26593885}" "" "" "" "Unknown" "" "" "0" "" "" "g.94078603A>T" "" "likely pathogenic" ""
"0000059072" "2" "70" "1" "94544159" "94544159" "subst" "2.03079E-5" "01248" "ABCA4_000063" "g.94544159A>T" "" "{PMID:Sciezyiska 2015:26593885}" "" "" "" "Unknown" "" "" "0" "" "" "g.94078603A>T" "" "likely pathogenic" ""
"0000059073" "2" "70" "1" "94528680" "94528680" "subst" "0" "01248" "ABCA4_000064" "g.94528680T>A" "" "{PMID:Sciezyiska 2015:26593885}" "" "" "" "Unknown" "" "" "0" "" "" "g.94063124T>A" "" "likely pathogenic" ""
"0000059074" "2" "70" "1" "94528680" "94528680" "subst" "0" "01248" "ABCA4_000064" "g.94528680T>A" "" "{PMID:Sciezyiska 2015:26593885}" "" "" "" "Unknown" "" "" "0" "" "" "g.94063124T>A" "" "likely pathogenic" ""
"0000059075" "2" "70" "1" "94520793" "94520793" "subst" "0" "01248" "ABCA4_000065" "g.94520793A>G" "" "{PMID:Sciezyiska 2015:26593885}" "" "" "" "Unknown" "" "" "0" "" "" "g.94055237A>G" "" "likely pathogenic" ""
"0000059076" "2" "77" "1" "94520793" "94520793" "subst" "0" "01248" "ABCA4_000065" "g.94520793A>G" "" "{PMID:Sciezyiska 2015:26593885}" "" "" "1/121346 in ExAC" "Germline" "" "" "0" "" "" "g.94055237A>G" "" "likely pathogenic" ""
"0000059077" "2" "70" "1" "94512541" "94512541" "subst" "0" "01248" "ABCA4_000066" "g.94512541A>G" "" "{PMID:Sciezyiska 2015:26593885}" "" "" "" "Unknown" "" "" "0" "" "" "g.94046985A>G" "" "likely pathogenic" ""
"0000059078" "2" "70" "1" "94490585" "94490585" "subst" "0" "01248" "ABCA4_000067" "g.94490585T>C" "" "{PMID:Sciezyiska 2015:26593885}" "" "" "" "Unknown" "" "" "0" "" "" "g.94025029T>C" "" "likely pathogenic" ""
"0000059079" "3" "75" "1" "94578524" "94578524" "subst" "0" "01248" "ABCA4_000068" "g.94578524C>G" "" "{PMID:Sciezyiska 2015:26593885}" "" "" "" "Germline" "" "" "0" "" "" "g.94112968C>G" "" "likely pathogenic" ""
"0000059081" "2" "75" "1" "94578524" "94578524" "subst" "0" "01248" "ABCA4_000068" "g.94578524C>G" "" "{PMID:Sciezyiska 2015:26593885}" "" "" "" "Germline" "" "" "0" "" "" "g.94112968C>G" "" "likely pathogenic" ""
"0000059082" "2" "70" "1" "94481293" "94481293" "subst" "4.07448E-6" "01248" "ABCA4_000057" "g.94481293A>C" "" "{PMID:Sciezyiska 2015:26593885}" "" "" "" "Unknown" "" "" "0" "" "" "g.94015737A>C" "" "likely pathogenic" ""
"0000059083" "2" "70" "1" "94473856" "94473856" "subst" "0" "01248" "ABCA4_000058" "g.94473856G>T" "" "{PMID:Sciezyiska 2015:26593885}" "" "" "" "Unknown" "" "" "0" "" "" "g.94008300G>T" "" "likely pathogenic" ""
"0000059084" "2" "79" "1" "94546244" "94546244" "del" "0" "01248" "ABCA4_000059" "g.94546244del" "" "{PMID:Sciezyiska 2015:26593885}" "" "889delC" "" "Germline" "" "" "0" "" "" "g.94080688del" "" "likely pathogenic" ""
"0000059085" "2" "79" "1" "94546220" "94546220" "subst" "0" "01248" "ABCA4_000060" "g.94546220G>A" "" "{PMID:Sciezyiska 2015:26593885}" "" "" "" "Germline" "" "" "0" "" "" "g.94080664G>A" "" "likely pathogenic" ""
"0000059086" "2" "70" "1" "94486942" "94486942" "subst" "0" "01248" "ABCA4_000061" "g.94486942C>T" "" "{PMID:Sciezyiska 2015:26593885}" "" "" "" "Unknown" "" "" "0" "" "" "g.94021386C>T" "" "likely pathogenic" ""
"0000079620" "0" "90" "1" "93811483" "98850435" "del" "0" "00006" "DPYD_000017" "g.93811483_98850435del" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "decreased gene dosage" "De novo" "" "" "0" "" "" "" "" "pathogenic" ""
"0000088038" "3" "70" "1" "94543338" "94543338" "subst" "0" "01338" "ABCA4_000109" "g.94543338C>A" "" "" "" "g.1566G>T" "" "Germline" "yes" "" "0" "" "" "g.94077782C>A" "" "likely pathogenic" ""
"0000118924" "1" "99" "1" "94517254" "94517254" "subst" "0.00442654" "00006" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Sciezynska 2015:26593885}" "" "" "" "Germline" "" "rs76157638" "0" "" "" "g.94051698C>G" "" "pathogenic" ""
"0000118925" "1" "97" "1" "94528806" "94528806" "subst" "0.000150298" "00006" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Sciezynska 2015:26593885}" "" "" "" "Germline" "" "" "0" "" "" "g.94063250A>G" "" "pathogenic" ""
"0000118926" "1" "77" "1" "94508969" "94508969" "subst" "0.00168642" "00006" "ABCA4_000021" "g.94508969G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic" ""
"0000118927" "1" "77" "1" "94564484" "94564484" "subst" "0.000110199" "00006" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Sciezynska 2015:26593885}" "" "" "" "Germline" "" "" "0" "" "" "g.94098928G>A" "" "likely pathogenic" ""
"0000118928" "1" "99" "1" "94481294" "94481294" "subst" "0" "00006" "ABCA4_000110" "g.94481294C>T" "" "{PMID:Sciezynska 2015:26593885}" "" "" "" "Germline" "" "" "0" "" "" "g.94015738C>T" "" "pathogenic" ""
"0000118929" "1" "99" "1" "94496571" "94496571" "subst" "4.06174E-6" "00006" "ABCA4_000111" "g.94496571G>A" "" "{PMID:Sciezynska 2015:26593885}" "" "" "" "Germline" "" "" "0" "" "" "g.94031015G>A" "" "pathogenic" ""
"0000119961" "2" "90" "1" "94508997" "94508997" "subst" "0" "01245" "ABCA4_000112" "g.94508997G>A" "" "{PMID:Bauwens 2014:25346251}" "" "" "" "Germline" "" "" "0" "" "" "g.94043441G>A" "" "pathogenic" ""
"0000119962" "2" "90" "1" "94544209" "94544209" "subst" "0" "00006" "ABCA4_000113" "g.94544209C>T" "" "{PMID:Bauwens 2014:25346251}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94078653C>T" "" "pathogenic" ""
"0000119963" "2" "70" "1" "94526295" "94526295" "subst" "3.69731E-5" "00006" "ABCA4_000114" "g.94526295C>T" "" "{PMID:Bauwens 2014:25346251}" "" "" "" "Germline" "" "" "0" "" "" "g.94060739C>T" "" "likely pathogenic" ""
"0000119964" "11" "50" "1" "94497563" "94497563" "subst" "0.00492504" "00006" "ABCA4_000090" "g.94497563C>T" "ExAC 0.00638" "{PMID:Bauwens 2014:25346251}" "" "" "" "Germline" "" "" "0" "" "" "g.94032007C>T" "" "VUS" ""
"0000119965" "1" "70" "1" "94564350" "94564350" "subst" "9.34268E-5" "00006" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Bax 2015:25363634}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94098794C>A" "" "likely pathogenic" ""
"0000119966" "2" "90" "1" "94568570" "94568699" "del" "0" "00006" "ABCA4_000047" "g.(94564548_94568570)_(94568699_94574132)del" "" "{PMID:Bax 2015:25363634}" "" "" "" "Germline" "yes" "" "0" "" "" "g.(94098992_94103014)_(94103143_94108576)del" "" "pathogenic" ""
"0000119972" "3" "90" "1" "94526258" "94526258" "subst" "4.07183E-6" "01695" "ABCA4_000762" "g.94526258G>T" "ExAC 1, 117152, 0, 0.000008536" "{PMID:Singh 2009:19339744}" "" "" "" "Germline" "" "" "0" "" "" "g.94060702G>T" "" "pathogenic" ""
"0000119973" "3" "90" "1" "94526258" "94526258" "subst" "4.07183E-6" "01695" "ABCA4_000762" "g.94526258G>T" "ExAC 1, 117152, 0, 0.000008536" "{PMID:Singh 2009:19339744}" "" "" "" "Germline" "" "" "0" "" "" "g.94060702G>T" "" "pathogenic" ""
"0000119974" "0" "50" "1" "94471022" "94471022" "subst" "0" "01695" "ABCA4_000790" "g.94471022C>T" "" "{PMID:Booij 2011:20801516}" "" "" "" "Germline" "" "" "0" "" "" "g.94005466C>T" "" "VUS" ""
"0000119975" "0" "70" "1" "94496039" "94496039" "subst" "0.00157963" "01695" "ABCA4_000552" "g.94496039C>T" "ExAC 173, 121380, 1, 0.001425" "{PMID:Booij 2011:20801516}" "" "" "On its own not significantely found more often in published STGD compared to ExAC (p-value 0.71). However, together with other non-significant variants published related to STGD, they are significantly more often in STGD patients (p-value <0.01)." "Germline" "" "" "0" "" "" "g.94030483C>T" "" "likely pathogenic" ""
"0000119976" "0" "30" "1" "94546261" "94546261" "subst" "0.000648567" "01695" "ABCA4_000353" "g.94546261G>A" "ExAC 65, 120922, 1, 0.0005375" "{PMID:Booij 2011:20801516}" "" "" "" "Germline" "" "" "0" "" "" "g.94080705G>A" "" "likely benign" ""
"0000119977" "0" "70" "1" "94574256" "94574256" "subst" "2.8425E-5" "01695" "ABCA4_000040" "g.94574256G>A" "ExAC 7, 121378, 0, 0.00005767" "{PMID:Booij 2011:20801516}" "" "" "" "Germline" "" "" "0" "" "" "g.94108700G>A" "" "likely pathogenic" ""
"0000119978" "0" "50" "1" "94544967" "94544967" "subst" "0" "01695" "ABCA4_000994" "g.94544967T>C" "" "{PMID:Booij 2011:20801516}" "" "" "" "Germline" "" "" "0" "" "" "g.94079411T>C" "" "VUS" ""
"0000119979" "0" "50" "1" "94512565" "94512565" "subst" "0.030364" "01695" "ABCA4_000002" "g.94512565C>T" "ExAC 3722, 121196, 87, 0.03071" "{PMID:Booij 2011:20801516}" "" "" "" "Germline" "" "" "0" "" "" "g.94047009C>T" "" "VUS" ""
"0000119980" "0" "70" "1" "94466426" "94466426" "subst" "1.62433E-5" "01695" "ABCA4_000124" "g.94466426G>A" "ExAC 2, 121400, 0, 0.00001647" "{PMID:Booij 2011:20801516}" "" "6445C>T" "" "Germline" "" "" "0" "" "" "g.94000870G>A" "" "likely pathogenic" ""
"0000119981" "0" "50" "1" "94564483" "94564483" "subst" "0.0409724" "01695" "ABCA4_000009" "g.94564483C>T" "ExAC 4891, 120214, 119, 0.04069" "{PMID:Booij 2011:20801516}" "" "" "" "Germline" "" "" "0" "" "" "g.94098927C>T" "" "VUS" ""
"0000119982" "3" "70" "1" "94496020" "94496020" "subst" "8.12143E-6" "01695" "ABCA4_000014" "g.94496020C>T" "ExAC 1, 121374, 0, 0.000008239" "{PMID:Abu-Safieh 2013:23105016}" "" "" "" "Germline" "" "" "0" "" "" "g.94030464C>T" "" "likely pathogenic" ""
"0000119983" "3" "70" "1" "94487251" "94487251" "subst" "2.85679E-5" "01695" "ABCA4_000490" "g.94487251G>T" "ExAC 3, 113672, 0, 0.00002639" "{PMID:Abu-Safieh 2013:23105016}" "" "" "" "Germline" "" "" "0" "" "" "g.94021695G>T" "" "likely pathogenic" ""
"0000119984" "3" "70" "1" "94487251" "94487251" "subst" "2.85679E-5" "01695" "ABCA4_000490" "g.94487251G>T" "ExAC 3, 113672, 0, 0.00002639" "{PMID:Abu-Safieh 2013:23105016}" "" "" "" "Germline" "" "" "0" "" "" "g.94021695G>T" "" "likely pathogenic" ""
"0000119985" "1" "50" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Chen 2013:23462753}" "" "" "" "Germline" "-" "" "0" "" "" "g.94046943T>C" "" "VUS" ""
"0000119986" "1" "50" "1" "94463583" "94463583" "subst" "8.12183E-6" "01695" "ABCA4_000806" "g.94463583A>G" "" "{PMID:Chen 2013:23462753}" "" "" "" "Germline" "-" "" "0" "" "" "g.93998027A>G" "" "VUS" ""
"0000119987" "0" "70" "1" "94487251" "94487251" "subst" "2.85679E-5" "01695" "ABCA4_000490" "g.94487251G>T" "ExAC 3, 113672, 0, 0.00002639" "{PMID:Chen 2013:23462753}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94021695G>T" "" "likely pathogenic" ""
"0000119988" "0" "70" "1" "94546150" "94546150" "subst" "4.06828E-6" "01695" "ABCA4_000346" "g.94546150T>A" "" "{PMID:Chen 2013:23462753}" "" "" "" "Germline" "-" "" "0" "" "" "g.94080594T>A" "" "likely pathogenic" ""
"0000119989" "11" "90" "1" "94467548" "94467548" "subst" "0.00295661" "01695" "ABCA4_000788" "g.94467548C>G" "ExAC 334, 121350, 0, 0.002752" "{PMID:Corton 2013:23940504}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94001992C>G" "" "pathogenic" ""
"0000119990" "21" "90" "1" "94577011" "94577011" "del" "0" "01695" "ABCA4_000160" "g.94577011del" "" "{PMID:Corton 2013:23940504}" "" "" "" "Germline" "-" "" "0" "" "" "g.94111455del" "" "pathogenic" ""
"0000119991" "11" "90" "1" "94467548" "94467548" "subst" "0.00295661" "01695" "ABCA4_000788" "g.94467548C>G" "ExAC 334, 121350, 0, 0.002752" "{PMID:Corton 2013:23940504}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94001992C>G" "" "pathogenic" ""
"0000119992" "21" "90" "1" "94577011" "94577011" "del" "0" "01695" "ABCA4_000160" "g.94577011del" "" "{PMID:Corton 2013:23940504}" "" "" "" "Germline" "-" "" "0" "" "" "g.94111455del" "" "pathogenic" ""
"0000119993" "11" "90" "1" "94546185" "94546185" "del" "0" "01695" "ABCA4_000350" "g.94546185del" "" "{PMID:Corton 2013:23940504}" "" "" "" "Germline" "-" "" "0" "" "" "g.94080629del" "" "pathogenic" ""
"0000119994" "21" "90" "1" "94487455" "94487455" "subst" "4.06128E-6" "01695" "ABCA4_000504" "g.94487455C>A" "" "{PMID:Corton 2013:23940504}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94021899C>A" "" "pathogenic" ""
"0000119995" "11" "90" "1" "94546185" "94546185" "del" "0" "01695" "ABCA4_000350" "g.94546185del" "" "{PMID:Corton 2013:23940504}" "" "" "" "Germline" "-" "" "0" "" "" "g.94080629del" "" "pathogenic" ""
"0000119996" "21" "90" "1" "94487455" "94487455" "subst" "4.06128E-6" "01695" "ABCA4_000504" "g.94487455C>A" "" "{PMID:Corton 2013:23940504}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94021899C>A" "" "pathogenic" ""
"0000119997" "3" "70" "1" "94522254" "94522254" "subst" "0" "01695" "ABCA4_000742" "g.94522254G>T" "" "{PMID:Corton 2013:23940504}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94056698G>T" "" "likely pathogenic" ""
"0000119998" "3" "70" "1" "94522254" "94522254" "subst" "0" "01695" "ABCA4_000742" "g.94522254G>T" "" "{PMID:Corton 2013:23940504}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94056698G>T" "" "likely pathogenic" ""
"0000119999" "0" "90" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "ExAC 5406, 121330, 156, 0.04456" "{PMID:Eisenberger 2013:24265693}" "" "" "" "Germline" "" "rs1801466" "0" "" "" "g.94010911T>A" "" "pathogenic" ""
"0000120000" "0" "30" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "ExAC 13, 121216, 0, 0.0001072" "{PMID:Eisenberger 2013:24265693}" "" "" "" "Germline" "-" "" "0" "" "" "g.94098794C>A" "" "likely benign" ""
"0000120001" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Eisenberger 2013:24265693}" "" "" "" "Germline" "-" "rs61751374" "0" "" "" "g.94043413G>A" "" "pathogenic" ""
"0000120002" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Eisenberger 2013:24265693}" "" "" "" "Germline" "-" "rs61751392" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000120003" "0" "70" "1" "94508435" "94508436" "dup" "0" "01695" "ABCA4_000998" "g.94508435_94508436dup" "" "{PMID:Eisenberger 2013:24265693}" "" "" "" "Germline" "" "" "0" "" "" "g.94042879_94042880dup" "" "likely pathogenic" ""
"0000120004" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Eisenberger 2013:24265693}" "" "" "" "Germline" "" "rs61751374" "0" "" "" "g.94043413G>A" "" "pathogenic" ""
"0000120005" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Eisenberger 2013:24265693}" "" "" "" "Germline" "" "rs61751392" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000120006" "0" "70" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "ExAC 13, 121216, 0, 0.0001072" "{PMID:Eisenberger 2013:24265693}" "" "" "" "Germline" "-" "" "0" "" "" "g.94098794C>A" "" "likely pathogenic" ""
"0000120007" "3" "90" "1" "94586601" "94586601" "subst" "8.12156E-6" "01695" "ABCA4_000264" "g.94586601T>C" "" "{PMID:Eisenberger 2013:24265693}" "" "c.6089G>A p.Arg2030Gln rs61750641 (homozygous)" "" "Germline" "" "" "0" "" "" "g.94121045T>C" "" "pathogenic" ""
"0000120008" "0" "70" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "ExAC 13, 121216, 0, 0.0001072" "{PMID:Glockle 2014:23591405}" "" "" "" "Germline" "-" "" "0" "" "" "g.94098794C>A" "" "likely pathogenic" ""
"0000120009" "0" "70" "1" "94474381" "94474381" "subst" "1.21849E-5" "01695" "ABCA4_000410" "g.94474381C>T" "ExAC 2, 121412, 0, 0.00001647" "{PMID:Glockle 2014:23591405}" "" "" "" "Germline" "" "" "0" "" "" "g.94008825C>T" "" "likely pathogenic" ""
"0000120010" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Glockle 2014:23591405}" "" "" "" "Germline" "-" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000120011" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Glockle 2014:23591405}" "" "" "" "Germline" "-" "" "0" "" "" "g.94043413G>A" "" "pathogenic" ""
"0000120012" "0" "70" "1" "94526186" "94526186" "del" "0" "01695" "ABCA4_000754" "g.94526186del" "" "{PMID:Glockle 2014:23591405}" "" "" "" "Germline" "" "" "0" "" "" "g.94060630del" "" "likely pathogenic" ""
"0000120013" "3" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Glockle 2014:23591405}" "" "" "" "Germline" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000120014" "3" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Glockle 2014:23591405}" "" "" "" "Germline" "" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic" ""
"0000120015" "3" "70" "1" "94495078" "94495078" "subst" "8.37044E-6" "01695" "ABCA4_000042" "g.94495078A>G" "ExAC 1, 70400, 0, 0.0000142" "{PMID:Glockle 2014:23591405}" "" "" "" "Germline" "" "" "0" "" "" "g.94029522A>G" "" "likely pathogenic" ""
"0000120016" "0" "70" "1" "94490534" "94490534" "subst" "0.000125895" "01695" "ABCA4_000520" "g.94490534G>A" "ExAC 14, 121396, 0, 0.0001153" "{PMID:Glockle 2014:23591405}" "" "" "" "Germline" "" "" "0" "" "" "g.94024978G>A" "" "likely pathogenic" ""
"0000120017" "0" "70" "1" "94520718" "94520718" "subst" "0" "01695" "ABCA4_000161" "g.94520718C>G" "" "{PMID:Glockle 2014:23591405}" "" "" "" "Germline" "-" "" "0" "" "" "g.94055162C>G" "" "likely pathogenic" ""
"0000120018" "3" "70" "1" "94528146" "94528146" "subst" "0" "01695" "ABCA4_000775" "g.94528146A>T" "" "{PMID:Jin 2014:24791140}" "" "" "" "Germline" "" "" "0" "" "" "g.94062590A>T" "" "likely pathogenic" ""
"0000120019" "3" "70" "1" "94528146" "94528146" "subst" "0" "01695" "ABCA4_000775" "g.94528146A>T" "" "{PMID:Jin 2014:24791140}" "" "" "" "Germline" "" "" "0" "" "" "g.94062590A>T" "" "likely pathogenic" ""
"0000120020" "3" "70" "1" "94528146" "94528146" "subst" "0" "01695" "ABCA4_000775" "g.94528146A>T" "" "{PMID:Jin 2014:24791140}" "" "" "" "Germline" "" "" "0" "" "" "g.94062590A>T" "" "likely pathogenic" ""
"0000120021" "21" "90" "1" "94526212" "94526212" "subst" "1.22012E-5" "01695" "ABCA4_000075" "g.94526212G>A" "ExAC 3, 120836, 0, 0.00002483" "{PMID:González-del Pozo 2014:25544989}" "" "" "" "Germline" "-" "" "0" "" "" "g.94060656G>A" "" "pathogenic" ""
"0000120022" "11" "90" "1" "94471056" "94471056" "subst" "2.84398E-5" "01695" "ABCA4_000050" "g.94471056G>A" "ExAC 3, 121402, 0, 0.00002471" "{PMID:González-del Pozo 2014:25544989}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94005500G>A" "" "pathogenic" ""
"0000120023" "21" "90" "1" "94526212" "94526212" "subst" "1.22012E-5" "01695" "ABCA4_000075" "g.94526212G>A" "ExAC 3, 120836, 0, 0.00002483" "{PMID:González-del Pozo 2014:25544989}" "" "" "" "Germline" "-" "" "0" "" "" "g.94060656G>A" "" "pathogenic" ""
"0000120024" "11" "90" "1" "94471056" "94471056" "subst" "2.84398E-5" "01695" "ABCA4_000050" "g.94471056G>A" "ExAC 3, 121402, 0, 0.00002471" "{PMID:González-del Pozo 2014:25544989}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94005500G>A" "" "pathogenic" ""
"0000120025" "21" "90" "1" "94526212" "94526212" "subst" "1.22012E-5" "01695" "ABCA4_000075" "g.94526212G>A" "ExAC 3, 120836, 0, 0.00002483" "{PMID:González-del Pozo 2014:25544989}" "" "" "" "Germline" "-" "" "0" "" "" "g.94060656G>A" "" "pathogenic" ""
"0000120026" "11" "90" "1" "94471056" "94471056" "subst" "2.84398E-5" "01695" "ABCA4_000050" "g.94471056G>A" "ExAC 3, 121402, 0, 0.00002471" "{PMID:González-del Pozo 2014:25544989}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94005500G>A" "" "pathogenic" ""
"0000120027" "0" "90" "1" "94543269" "94543269" "subst" "0.000179087" "01695" "ABCA4_000307" "g.94543269G>A" "ExAC 26, 120500, 0, 0.0002158" "{PMID:Huang 2015:25356976}" "" "" "On its own not significantely found more often in published STGD compared to ExAC (p-value 0.37). However, together with other non-significant variants published related to STGD, they are significantly more often in STGD patients (p-value <0.01)." "Germline" "-" "" "0" "" "" "g.94077713G>A" "" "pathogenic" ""
"0000120028" "0" "70" "1" "94466391" "94466391" "subst" "0" "01695" "ABCA4_000813" "g.94466391C>G" "" "{PMID:Huang 2015:25356976}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94000835C>G" "" "likely pathogenic" ""
"0000120029" "0" "70" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "ExAC 6, 119038, 0, 0.0000504" "{PMID:Huang 2015:25356976}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94062710G>A" "" "likely pathogenic" ""
"0000120030" "0" "70" "1" "94476818" "94476818" "subst" "0" "01695" "ABCA4_000162" "g.94476818C>G" "" "{PMID:Huang 2015:25356976}" "" "" "" "Germline" "-" "" "0" "" "" "g.94011262C>G" "" "likely pathogenic" ""
"0000120031" "3" "70" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "ExAC 21, 121302, 0, 0.0001731" "{PMID:Huang 2015:25356976}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94046943T>C" "" "likely pathogenic" ""
"0000120032" "0" "70" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "ExAC 21, 121302, 0, 0.0001731" "{PMID:Huang 2015:25356976}" "" "" "" "Germline" "-" "" "0" "" "" "g.94046943T>C" "" "likely pathogenic" ""
"0000120033" "0" "70" "1" "94466388" "94466388" "subst" "0" "01695" "ABCA4_000811" "g.94466388T>C" "" "{PMID:Huang 2015:25356976}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94000832T>C" "" "likely pathogenic" ""
"0000120034" "0" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "ExAC 12, 60116, 0, 0.0001996" "{PMID:Alapati 2014:25082885}" "" "" "" "Germline" "" "" "0" "" "" "g.94029515C>T" "" "likely pathogenic" ""
"0000120035" "0" "70" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "ExAC 14, 120056, 0, 0.0001166" "{PMID:Alapati 2014:25082885}" "" "" "" "Germline" "-" "" "0" "" "" "g.94098928G>A" "" "likely pathogenic" ""
"0000120036" "0" "50" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "ExAC 601, 118484, 2, 0.005072" "{PMID:Alapati 2014:25082885}" "" "" "" "Germline" "-" "rs76157638" "0" "" "" "g.94051698C>G" "" "VUS" ""
"0000120037" "0" "50" "1" "94502293" "94502293" "subst" "0" "01695" "ABCA4_000588" "g.94502293T>C" "" "{PMID:Alapati 2014:25082885}" "" "" "" "Germline" "-" "" "0" "" "" "g.94036737T>C" "" "VUS" ""
"0000120038" "0" "50" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "ExAC 27, 121030, 0, 0.0002231" "{PMID:Alapati 2014:25082885}" "" "" "" "Germline" "-" "" "0" "" "" "g.94011395A>G" "" "VUS" ""
"0000120039" "0" "90" "1" "94496636" "94496636" "subst" "4.06296E-6" "01695" "ABCA4_000159" "g.94496636A>G" "ExAC 1, 120092, 0, 0.000008327" "{PMID:Alapati 2014:25082885}" "" "" "" "Germline" "" "" "0" "" "" "g.94031080A>G" "" "pathogenic" ""
"0000120040" "0" "70" "1" "94577135" "94577135" "subst" "2.43718E-5" "01695" "ABCA4_000240" "g.94577135C>T" "ExAC 2, 121210, 0, 0.0000165" "{PMID:Alapati 2014:25082885}" "" "2 c.156T>G p.His52Gln Heterozygous" "" "Germline" "-" "" "0" "" "" "g.94111579C>T" "" "likely pathogenic" ""
"0000120041" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "ExAC 42, 120772, 0, 0.0003478" "{PMID:Alapati 2014:25082885}" "" "" "" "Germline" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic" ""
"0000120042" "0" "90" "1" "94520869" "94520869" "subst" "0" "01695" "ABCA4_000163" "g.94520869G>A" "" "{PMID:Alapati 2014:25082885}" "" "Ser795Arg" "In the paper p.Ser795Arg is given" "Germline" "-" "" "0" "" "" "g.94055313G>A" "" "pathogenic" ""
"0000120043" "0" "70" "1" "94467475" "94467475" "subst" "3.65542E-5" "01695" "ABCA4_000171" "g.94467475C>A" "ExAC 5, 121364, 0, 0.0000412" "{PMID:Alapati 2014:25082885}" "" "" "" "Germline" "" "" "0" "" "" "g.94001919C>A" "" "likely pathogenic" ""
"0000120044" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "ExAC 613, 121302, 4, 0.005054" "{PMID:Alapati 2014:25082885}" "" "" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000120045" "0" "90" "1" "94473790" "94473790" "subst" "0" "01695" "ABCA4_000399" "g.94473790C>T" "" "{PMID:Alapati 2014:25082885}" "" "" "" "Germline" "-" "" "0" "" "" "g.94008234C>T" "" "pathogenic" ""
"0000120046" "0" "90" "1" "94473298" "94473298" "del" "0" "01695" "ABCA4_000396" "g.94473298del" "" "{PMID:Alapati 2014:25082885}" "" "" "" "Germline" "" "" "0" "" "" "g.94007742del" "" "pathogenic" ""
"0000120047" "0" "70" "1" "94568582" "94568582" "subst" "2.03034E-5" "01695" "ABCA4_000203" "g.94568582G>A" "ExAC 2, 121410, 0, 0.00001647" "{PMID:Alapati 2014:25082885}" "" "" "" "Germline" "-" "" "0" "" "" "g.94103026G>A" "" "likely pathogenic" ""
"0000120048" "0" "70" "1" "94476425" "94476425" "subst" "8.12282E-6" "01695" "ABCA4_000419" "g.94476425A>G" "" "{PMID:Alapati 2014:25082885}" "" "" "" "Germline" "" "" "0" "" "" "g.94010869A>G" "" "likely pathogenic" ""
"0000120049" "0" "70" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "ExAC 13, 121216, 0, 0.0001072" "{PMID:Alapati 2014:25082885}" "" "" "May affect splicing" "Germline" "-" "" "0" "" "" "g.94098794C>A" "" "likely pathogenic" ""
"0000120050" "0" "70" "1" "94490567" "94490567" "subst" "5.68528E-5" "01695" "ABCA4_000026" "g.94490567G>A" "ExAC 4, 121406, 0, 0.00003295" "{PMID:Alapati 2014:25082885}" "" "" "" "Germline" "" "" "0" "" "" "g.94025011G>A" "" "likely pathogenic" ""
"0000120051" "0" "70" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "ExAC 14, 121282, 0, 0.0001154" "{PMID:Alapati 2014:25082885}" "" "" "" "Germline" "" "" "0" "" "" "g.94042767G>A" "" "likely pathogenic" ""
"0000120052" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "ExAC 15, 121412, 0, 0.0001235" "{PMID:Alapati 2014:25082885}" "" "21 c.3113C>T p.Ala1038Val homozygous" "" "Germline" "-" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000120053" "3" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "ExAC 15, 121412, 0, 0.0001235" "{PMID:Alapati 2014:25082885}" "" "21 c.3113C>T p.Ala1038Val homozygous" "" "Germline" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000120054" "0" "70" "1" "94528143" "94528143" "subst" "0.00124448" "01695" "ABCA4_000076" "g.94528143C>T" "ExAC 196, 121108, 1, 0.001618" "{PMID:Alapati 2014:25082885}" "" "24 c.3602T>G p.Leu1201Arg heterozygous" "" "Germline" "-" "" "0" "" "" "g.94062587C>T" "" "likely pathogenic" ""
"0000120055" "0" "30" "1" "94485148" "94485148" "subst" "4.27562E-6" "01695" "ABCA4_000099" "g.94485148A>G" "" "{PMID:Alapati 2014:25082885}" "" "" "" "Germline" "" "" "0" "" "" "g.94019592A>G" "" "likely benign" ""
"0000120056" "0" "70" "1" "94463617" "94463617" "subst" "0.0109114" "01695" "ABCA4_000013" "g.94463617C>T" "ExAC 1235, 121366, 14, 0.01018" "{PMID:Alapati 2014:25082885}" "" "" "" "Germline" "" "" "0" "" "" "g.93998061C>T" "" "likely pathogenic" ""
"0000120057" "0" "30" "1" "94506923" "94506923" "subst" "2.43657E-5" "01695" "ABCA4_000012" "g.94506923C>T" "ExAC 3, 121394, 0, 0.00002471" "{PMID:Alapati 2014:25082885}" "" "" "" "Germline" "-" "" "0" "" "" "g.94041367C>T" "" "likely benign" ""
"0000120058" "0" "70" "1" "94496583" "94496583" "subst" "2.03092E-5" "01695" "ABCA4_000190" "g.94496583A>G" "ExAC 1, 120898, 0, 0.000008271" "{PMID:Alapati 2014:25082885}" "" "" "" "Germline" "" "" "0" "" "" "g.94031027A>G" "" "likely pathogenic" ""
"0000120059" "0" "70" "1" "94486896" "94486896" "subst" "3.65562E-5" "01695" "ABCA4_000085" "g.94486896G>A" "ExAC 1, 121394, 0, 0.000008238" "{PMID:Alapati 2014:25082885}" "" "" "" "Germline" "-" "" "0" "" "" "g.94021340G>A" "" "likely pathogenic" ""
"0000120060" "0" "70" "1" "94543268" "94543268" "subst" "0.000778106" "01695" "ABCA4_000306" "g.94543268C>T" "ExAC 97, 120202, 0, 0.000807" "{PMID:Alapati 2014:25082885}" "" "" "" "Germline" "-" "" "0" "" "" "g.94077712C>T" "" "likely pathogenic" ""
"0000120061" "0" "30" "1" "94497563" "94497563" "subst" "0.00492504" "01695" "ABCA4_000090" "g.94497563C>T" "ExAC 757, 118654, 27, 0.00638" "{PMID:Alapati 2014:25082885}" "" "" "Benign" "Germline" "-" "" "0" "" "" "g.94032007C>T" "" "likely benign" ""
"0000120062" "0" "50" "1" "94528137" "94528137" "subst" "2.03363E-5" "01695" "ABCA4_000774" "g.94528137C>T" "ExAC 1, 121050, 0, 0.000008261" "{PMID:Alapati 2014:25082885}" "" "" "" "Germline" "-" "" "0" "" "" "g.94062581C>T" "" "VUS" ""
"0000120063" "0" "50" "1" "94486896" "94486896" "subst" "3.65562E-5" "01695" "ABCA4_000085" "g.94486896G>A" "ExAC 1, 121394, 0, 0.000008238" "{PMID:Alapati 2014:25082885}" "" "" "" "Germline" "-" "" "0" "" "" "g.94021340G>A" "" "VUS" ""
"0000120064" "3" "70" "1" "94546283" "94546283" "subst" "8.18311E-5" "01695" "ABCA4_000356" "g.94546283A>G" "ExAC 18, 120572, 0, 0.0001493" "{PMID:Alapati 2014:25082885}" "" "" "" "Germline" "" "" "0" "" "" "g.94080727A>G" "" "likely pathogenic" ""
"0000120065" "3" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "ExAC 613, 121302, 4, 0.005054" "{PMID:Alapati 2014:25082885}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000120066" "3" "90" "1" "94473278" "94473278" "del" "3.25908E-5" "01695" "ABCA4_000392" "g.94473278del" "" "{PMID:Alapati 2014:25082885}" "" "" "" "Germline" "" "" "0" "" "" "g.94007722del" "" "pathogenic" ""
"0000120067" "0" "90" "1" "94488948" "94488948" "subst" "0" "01695" "ABCA4_000514" "g.94488948T>C" "" "{PMID:Alapati 2014:25082885}" "" "" "" "Germline" "-" "" "0" "" "" "g.94023392T>C" "" "pathogenic" ""
"0000120068" "0" "70" "1" "94495157" "94495157" "subst" "0" "01695" "ABCA4_000545" "g.94495157C>T" "" "{PMID:Alapati 2014:25082885}" "" "" "" "Germline" "" "" "0" "" "" "g.94029601C>T" "" "likely pathogenic" ""
"0000120069" "0" "70" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "ExAC 27, 121030, 0, 0.0002231" "{PMID:Alapati 2014:25082885}" "" "" "" "Germline" "-" "" "0" "" "" "g.94011395A>G" "" "likely pathogenic" ""
"0000120070" "0" "70" "1" "94508386" "94508386" "subst" "1.62443E-5" "01695" "ABCA4_000642" "g.94508386C>T" "ExAC 4, 121376, 0, 0.00003296" "{PMID:Alapati 2014:25082885}" "" "" "" "Germline" "" "" "0" "" "" "g.94042830C>T" "" "likely pathogenic" ""
"0000120071" "0" "70" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "ExAC 27, 121030, 0, 0.0002231" "{PMID:Alapati 2014:25082885}" "" "" "" "Germline" "-" "" "0" "" "" "g.94011395A>G" "" "likely pathogenic" ""
"0000120072" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "ExAC 613, 121302, 4, 0.005054" "{PMID:Alapati 2014:25082885}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000120073" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "ExAC 613, 121302, 4, 0.005054" "{PMID:Alapati 2014:25082885}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000120074" "0" "70" "1" "94486895" "94486895" "subst" "3.24923E-5" "01695" "ABCA4_000484" "g.94486895C>T" "ExAC 7, 121398, 0, 0.00005766" "{PMID:Alapati 2014:25082885}" "" "c.5898-11G>A, c.6729+21C>T, both are heterozygous" "" "Germline" "-" "" "0" "" "" "g.94021339C>T" "" "likely pathogenic" ""
"0000120075" "0" "50" "1" "94544208" "94544208" "subst" "0.000158364" "01695" "ABCA4_000320" "g.94544208C>T" "ExAC 14, 121412, 0, 0.0001153" "{PMID:Oishi 2014:25324289}" "" "" "On its own not significantely found more often in published STGD compared to ExAC (p-value 0.96). However, together with other non-significant variants published related to STGD, they are significantly more often in STGD patients (p-value <0.01)." "Germline" "-" "" "0" "" "" "g.94078652C>T" "" "VUS" ""
"0000120076" "0" "50" "1" "94496053" "94496053" "subst" "0.00437371" "01695" "ABCA4_000556" "g.94496053G>A" "ExAC 500, 121376, 12, 0.004119" "{PMID:Oishi 2014:25324289}" "" "" "" "Germline" "-" "" "0" "" "" "g.94030497G>A" "" "VUS" ""
"0000120077" "0" "50" "1" "94466426" "94466426" "subst" "1.62433E-5" "01695" "ABCA4_000124" "g.94466426G>A" "ExAC 2, 121400, 0, 0.00001647" "{PMID:Oishi 2014:25324289}" "" "" "" "Germline" "-" "" "0" "" "" "g.94000870G>A" "" "VUS" ""
"0000120078" "0" "30" "1" "94564355" "94564355" "subst" "0.000105612" "01695" "ABCA4_000365" "g.94564355G>A" "ExAC 12, 121236, 0, 0.00009898" "{PMID:Oishi 2014:25324289}" "" "c.4283C>T p.T1428M heterozygous" "On its own not significantely found more often in published STGD compared to ExAC (p-value 0.22). However, together with other non-significant variants published related to STGD, they are significantly more often in STGD patients (p-value <0.01)" "Germline" "-" "" "0" "" "" "g.94098799G>A" "" "likely benign" ""
"0000120079" "0" "70" "1" "94502888" "94502888" "subst" "0.00310941" "01695" "ABCA4_000603" "g.94502888A>G" "ExAC 325, 120738, 4, 0.002692" "{PMID:Oishi 2014:25324289}" "" "" "" "Germline" "" "" "0" "" "" "g.94037332A>G" "" "likely pathogenic" ""
"0000120080" "0" "50" "1" "94528729" "94528729" "subst" "0.000255885" "01695" "ABCA4_000297" "g.94528729C>T" "ExAC 36, 121412, 1, 0.0002965" "{PMID:Oishi 2014:25324289}" "" "" "On its own not significantely found more often in published STGD compared to ExAC (p-value 0.34). However, together with other non-significant variants published related to STGD, they are significantly more often in STGD patients (p-value <0.01)." "Germline" "-" "" "0" "" "" "g.94063173C>T" "" "VUS" ""
"0000120081" "0" "50" "1" "94528729" "94528729" "subst" "0.000255885" "01695" "ABCA4_000297" "g.94528729C>T" "ExAC 36, 121412, 1, 0.0002965" "{PMID:Oishi 2014:25324289}" "" "" "On its own not significantely found more often in published STGD compared to ExAC (p-value 0.34). However, together with other non-significant variants published related to STGD, they are significantly more often in STGD patients (p-value <0.01)." "Germline" "-" "" "0" "" "" "g.94063173C>T" "" "VUS" ""
"0000120082" "0" "50" "1" "94528729" "94528729" "subst" "0.000255885" "01695" "ABCA4_000297" "g.94528729C>T" "ExAC 36, 121412, 1, 0.0002965" "{PMID:Oishi 2014:25324289}" "" "" "On its own not significantely found more often in published STGD compared to ExAC (p-value 0.34). However, together with other non-significant variants published related to STGD, they are significantly more often in STGD patients (p-value <0.01)." "Germline" "-" "" "0" "" "" "g.94063173C>T" "" "VUS" ""
"0000120083" "0" "70" "1" "94496610" "94496610" "subst" "2.03128E-5" "01695" "ABCA4_000571" "g.94496610C>T" "ExAC 2, 120596, 0, 0.00001658" "{PMID:Oishi 2014:25324289}" "" "" "" "Germline" "" "" "0" "" "" "g.94031054C>T" "" "likely pathogenic" ""
"0000120084" "0" "70" "1" "94512595" "94512595" "subst" "0" "01695" "ABCA4_000180" "g.94512595T>A" "" "{PMID:Oishi 2014:25324289}" "" "" "" "Germline" "-" "" "0" "" "" "g.94047039T>A" "" "likely pathogenic" ""
"0000120085" "0" "50" "1" "94577102" "94577102" "subst" "4.06161E-6" "01695" "ABCA4_000033" "g.94577102C>T" "" "{PMID:Oishi 2014:25324289}" "" "" "" "Germline" "-" "" "0" "" "" "g.94111546C>T" "" "VUS" ""
"0000120086" "0" "50" "1" "94496053" "94496053" "subst" "0.00437371" "01695" "ABCA4_000556" "g.94496053G>A" "ExAC 500, 121376, 12, 0.004119" "{PMID:Oishi 2014:25324289}" "" "" "" "Germline" "-" "" "0" "" "" "g.94030497G>A" "" "VUS" ""
"0000120087" "0" "70" "1" "94528666" "94528666" "subst" "0" "01695" "ABCA4_000289" "g.94528666A>C" "" "{PMID:Oishi 2014:25324289}" "" "" "" "Germline" "-" "" "0" "" "" "g.94063110A>C" "" "likely pathogenic" ""
"0000120088" "0" "50" "1" "94528729" "94528729" "subst" "0.000255885" "01695" "ABCA4_000297" "g.94528729C>T" "ExAC 36, 121412, 1, 0.0002965" "{PMID:Oishi 2014:25324289}" "" "" "On its own not significantely found more often in published STGD compared to ExAC (p-value 0.34). However, together with other non-significant variants published related to STGD, they are significantly more often in STGD patients (p-value <0.01)." "Germline" "-" "" "0" "" "" "g.94063173C>T" "" "VUS" ""
"0000120089" "0" "70" "1" "94577135" "94577135" "subst" "4.06197E-6" "01695" "ABCA4_000241" "g.94577135C>A" "ExAC 1, 121210, 0, 0.00000825" "{PMID:Oishi 2014:25324289}" "" "" "" "Germline" "-" "" "0" "" "" "g.94111579C>A" "" "likely pathogenic" ""
"0000120090" "0" "90" "1" "94526092" "94526092" "subst" "0" "01695" "ABCA4_000748" "g.94526092C>G" "" "{PMID:Mullins 2012:22395892}, {PMID:Schindler 2010:20647261}" "" "IVS14+1G > C" "" "Germline" "-" "" "0" "" "" "g.94060536C>G" "" "pathogenic" ""
"0000120091" "0" "90" "1" "94496018" "94496018" "del" "0" "01695" "ABCA4_000551" "g.94496018del" "" "{PMID:Mullins 2012:22395892}, {PMID:Schindler 2010:20647261}" "" "c.4318del1cT" "" "Germline" "yes" "" "0" "" "" "g.94030462del" "" "pathogenic" ""
"0000120092" "3" "70" "1" "94517225" "94517225" "subst" "8.12249E-6" "01695" "ABCA4_000703" "g.94517225A>G" "ExAC 1, 120714, 0, 0.000008284" "{PMID:Zhao 2015:25472526}" "" "c.2617T>C" "" "Germline" "-" "" "0" "" "" "g.94051669A>G" "" "likely pathogenic" ""
"0000120093" "3" "90" "1" "94577135" "94577135" "subst" "2.43718E-5" "01695" "ABCA4_000240" "g.94577135C>T" "ExAC 2, 121210, 0, 0.0000165" "{PMID:Zhao 2015:25472526}" "" "c.161G>A" "" "Germline" "-" "" "0" "" "" "g.94111579C>T" "" "pathogenic" ""
"0000120094" "0" "70" "1" "94544185" "94544185" "subst" "8.12137E-6" "01695" "ABCA4_000177" "g.94544185C>T" "ExAC 1, 121412, 0, 0.000008236" "{PMID:Zhao 2015:25472526}" "" "c.1317G>A" "" "Germline" "-" "" "0" "" "" "g.94078629C>T" "" "likely pathogenic" ""
"0000120095" "0" "90" "1" "94528265" "94528265" "subst" "2.44212E-5" "01695" "ABCA4_000284" "g.94528265C>T" "ExAC 2, 119074, 0, 0.0000168" "{PMID:Zhao 2015:25472526}" "" "c.1805G>A" "" "Germline" "-" "" "0" "" "" "g.94062709C>T" "" "pathogenic" ""
"0000120096" "3" "90" "1" "94508435" "94508436" "dup" "0" "01695" "ABCA4_000998" "g.94508435_94508436dup" "" "{PMID:Zhao 2015:25472526}" "" "c.3211_3212insGT" "" "Germline" "yes" "" "0" "" "" "g.94042879_94042880dup" "" "pathogenic" ""
"0000120097" "3" "90" "1" "94526212" "94526212" "subst" "1.22012E-5" "01695" "ABCA4_000075" "g.94526212G>A" "ExAC 3, 120836, 0, 0.00002483" "{PMID:Zhao 2015:25472526}" "" "c.2041C>T" "" "Germline" "yes" "" "0" "" "" "g.94060656G>A" "" "pathogenic" ""
"0000120098" "0" "70" "1" "94543281" "94543281" "subst" "4.0661E-6" "01695" "ABCA4_000309" "g.94543281C>A" "ExAC 1, 121136, 0, 0.000008255" "{PMID:Zhao 2015:25472526}" "" "c.1519G>T" "" "Germline" "?" "" "0" "" "" "g.94077725C>A" "" "likely pathogenic" ""
"0000120099" "0" "70" "1" "94466455" "94466455" "subst" "0" "01695" "ABCA4_000165" "g.94466455C>G" "" "{PMID:Zhao 2015:25472526}" "" "c.6416G>C" "" "Germline" "-" "" "0" "" "" "g.94000899C>G" "" "likely pathogenic" ""
"0000120100" "0" "70" "1" "94577135" "94577135" "subst" "2.43718E-5" "01695" "ABCA4_000240" "g.94577135C>T" "ExAC 2, 121210, 0, 0.0000165" "{PMID:Zhao 2015:25472526}" "" "c.161G>A" "" "Germline" "-" "" "0" "" "" "g.94111579C>T" "" "likely pathogenic" ""
"0000120101" "0" "90" "1" "94586557" "94586561" "del" "0" "01695" "ABCA4_000257" "g.94586557_94586561del" "" "{PMID:Zhao 2015:25472526}" "" "c.43_48del6insC" "" "Germline" "?" "" "0" "" "" "g.94121001_94121005del" "" "pathogenic" ""
"0000120102" "0" "70" "1" "94476812" "94476812" "subst" "0" "01695" "ABCA4_000048" "g.94476812A>G" "" "{PMID:Bax 2015:25363634}" "" "c.5584+6T>C" "" "Germline" "-" "" "0" "" "" "g.94011256A>G" "" "likely pathogenic" ""
"0000120103" "0" "50" "1" "94493000" "94493000" "subst" "0" "01695" "ABCA4_000015" "g.94493000C>T" "" "{PMID:Bax 2015:25363634}" "" "c.4539+2001G>A" "" "Germline" "?" "" "0" "" "" "g.94027444C>T" "" "VUS" ""
"0000120104" "21" "50" "1" "94486922" "94486922" "subst" "0" "01695" "ABCA4_000044" "g.94486922A>G" "" "{PMID:Bax 2015:25363634}" "" "c.4892T>C" "" "Germline" "-" "" "0" "" "" "g.94021366A>G" "" "VUS" ""
"0000120105" "11" "70" "1" "94493000" "94493000" "subst" "0" "01695" "ABCA4_000015" "g.94493000C>T" "" "{PMID:Bax 2015:25363634}, {PMID:Albert 2018:29526278}" "" "c.4539+2001G>A" "0.25 aberrant ABCA4 transcripts" "Germline" "yes" "" "0" "" "" "g.94027444C>T" "" "likely pathogenic" ""
"0000120106" "3" "70" "1" "94520801" "94520801" "subst" "0.000211489" "01695" "ABCA4_000724" "g.94520801C>T" "ExAC 24, 121324, 0, 0.0001978" "{PMID:Allikmets 1997:9288113}; {PMID:Allikmets 1997:9054934}" "" "G2453A" "" "Germline" "?" "" "0" "" "" "g.94055245C>T" "" "likely pathogenic" ""
"0000120107" "11" "50" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "ExAC 24, 121324, 0, 0.0001978" "{PMID:Allikmets 1997:9288113}; {PMID:Allikmets 1997:9054934}" "" "G2588C" "" "Germline" "-" "rs76157638" "0" "" "" "g.94051698C>G" "" "VUS" ""
"0000120108" "21" "90" "1" "94512500" "94512500" "subst" "0" "01695" "ABCA4_000684" "g.94512500T>C" "" "{PMID:Allikmets 1997:9288113}; {PMID:Allikmets 1997:9054934}" "" "A2893G" "" "Germline" "yes" "" "0" "" "" "g.94046944T>C" "" "pathogenic" ""
"0000120109" "3" "70" "1" "94512602" "94512602" "subst" "0.000369717" "01695" "ABCA4_000052" "g.94512602C>T" "ExAC 59, 120896, 0, 0.000488" "{PMID:Allikmets 1997:9288113}; {PMID:Allikmets 1997:9054934}" "" "G2791A" "" "Germline" "yes" "" "0" "" "" "g.94047046C>T" "" "likely pathogenic" ""
"0000120110" "3" "70" "1" "94485279" "94485293" "del" "0" "01695" "ABCA4_000476" "g.94485279_94485293del" "" "{PMID:Allikmets 1997:9288113}; {PMID:Allikmets 1997:9054934}" "" "4927del15" "" "Germline" "yes" "" "0" "" "" "g.94019723_94019737del" "" "likely pathogenic" ""
"0000120111" "21" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "ExAC 173, 121304, 0, 0.001426" "{PMID:Allikmets 1997:9288113}; {PMID:Allikmets 1997:9054934}" "" "C3083T" "" "Germline" "-" "" "0" "" "" "g.94043413G>A" "" "pathogenic" ""
"0000120112" "11" "30" "1" "94485136" "94485136" "subst" "0" "01695" "ABCA4_000189" "g.94485136A>G" "" "{PMID:Allikmets 1997:9288113}; {PMID:Allikmets 1997:9054934}" "" "5082+2T>C" "" "Germline" "?" "" "0" "" "" "g.94019580A>G" "" "likely benign" ""
"0000120113" "21" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "ExAC 173, 121304, 0, 0.001426" "{PMID:Allikmets 1997:9288113}; {PMID:Allikmets 1997:9054934}" "" "C3083T" "" "Germline" "-" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic" ""
"0000120114" "11" "30" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "ExAC 26, 121404, 0, 0.0002142" "{PMID:Allikmets 1997:9288113}; {PMID:Allikmets 1997:9054934}" "" "C5965T" "" "Germline" "?" "" "0" "" "" "g.94005509G>A" "" "likely benign" ""
"0000120115" "21" "90" "1" "94466625" "94466625" "subst" "1.62559E-5" "01695" "ABCA4_000839" "g.94466625G>A" "" "{PMID:Allikmets 1997:9288113}; {PMID:Allikmets 1997:9054934}" "" "C6206T" "" "Germline" "-" "" "0" "" "" "g.94001069G>A" "" "pathogenic" ""
"0000120116" "11" "70" "1" "94463436" "94463437" "ins" "0" "01695" "ABCA4_000858" "g.94463436_94463437insC" "" "{PMID:Allikmets 1997:9288113}; {PMID:Allikmets 1997:9054934}" "" "6595insG" "" "Germline" "?" "" "0" "" "" "g.93997880_93997881insC" "" "likely pathogenic" ""
"0000120117" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "ExAC 13, 121216, 0, 0.0001072" "{PMID:Maugeri 1999:10090887}" "" "768G>T" "" "Germline" "?" "" "0" "" "" "g.94098794C>A" "" "pathogenic" ""
"0000120118" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "ExAC 601, 118484, 2, 0.005072" "{PMID:Maugeri 1999:10090887}" "" "2588G>C" "" "Germline" "-" "rs76157638" "0" "" "" "g.94051698C>G" "" "pathogenic" ""
"0000120119" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "ExAC 601, 118484, 2, 0.005072" "{PMID:Maugeri 1999:10090887}" "" "2588G>C" "" "Germline" "-" "rs76157638" "0" "" "" "g.94051698C>G" "" "pathogenic" ""
"0000120120" "0" "90" "1" "94495000" "94495000" "subst" "0" "01695" "ABCA4_000164" "g.94495000C>A" "" "{PMID:Maugeri 1999:10090887}" "" "IVS30+1G>T" "" "Germline" "?" "" "0" "" "" "g.94029444C>A" "" "pathogenic" ""
"0000120121" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "ExAC 601, 118484, 2, 0.005072" "{PMID:Maugeri 1999:10090887}" "" "2588G>C" "" "Germline" "-" "rs76157638" "0" "" "" "g.94051698C>G" "" "likely pathogenic" ""
"0000120122" "0" "90" "1" "94506952" "94506952" "subst" "0" "01695" "ABCA4_000628" "g.94506952G>T" "" "{PMID:Maugeri 1999:10090887}" "" "3335C>A" "" "Germline" "?" "" "0" "" "" "g.94041396G>T" "" "pathogenic" ""
"0000120123" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "ExAC 601, 118484, 2, 0.005072" "{PMID:Maugeri 1999:10090887}" "" "2588G>C" "" "Germline" "" "rs76157638" "0" "" "" "g.94051698C>G" "" "pathogenic" ""
"0000120124" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "ExAC 601, 118484, 2, 0.005072" "{PMID:Maugeri 1999:10090887}" "" "2588G>C" "" "Germline" "" "rs76157638" "0" "" "" "g.94051698C>G" "" "likely pathogenic" ""
"0000120125" "0" "90" "1" "94512523" "94512523" "subst" "0" "01695" "ABCA4_000688" "g.94512523T>C" "" "{PMID:Maugeri 1999:10090887}" "" "2870A>G" "" "Germline" "?" "" "0" "" "" "g.94046967T>C" "" "pathogenic" ""
"0000120126" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "ExAC 601, 118484, 2, 0.005072" "{PMID:Maugeri 1999:10090887}" "" "2588G>C" "" "Germline" "" "rs76157638" "0" "" "" "g.94051698C>G" "" "pathogenic" ""
"0000120127" "0" "90" "1" "94485173" "94485174" "del" "0" "01695" "ABCA4_000468" "g.94485173_94485174del" "" "{PMID:Maugeri 1999:10090887}" "" "5161delAC" "" "Germline" "?" "" "0" "" "" "g.94019617_94019618del" "" "pathogenic" ""
"0000120128" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "ExAC 601, 118484, 2, 0.005072" "{PMID:Maugeri 1999:10090887}" "" "2588G>C" "" "Germline" "" "rs76157638" "0" "" "" "g.94051698C>G" "" "pathogenic" ""
"0000120129" "0" "90" "1" "94496605" "94496605" "subst" "0" "01695" "ABCA4_000570" "g.94496605G>T" "" "{PMID:Maugeri 1999:10090887}" "" "4200C>A" "" "Germline" "?" "" "0" "" "" "g.94031049G>T" "" "pathogenic" ""
"0000120130" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "ExAC 601, 118484, 2, 0.005072" "{PMID:Maugeri 1999:10090887}" "" "2588G>C" "" "Germline" "" "rs76157638" "0" "" "" "g.94051698C>G" "" "pathogenic" ""
"0000120131" "0" "90" "1" "94476401" "94476403" "del" "0" "01695" "ABCA4_000414" "g.94476401_94476403del" "" "{PMID:Maugeri 1999:10090887}" "" "4200C>A" "" "Germline" "?" "" "0" "" "" "g.94010845_94010847del" "" "pathogenic" ""
"0000120132" "0" "90" "1" "94480178" "94480178" "subst" "2.43692E-5" "01695" "ABCA4_000005" "g.94480178G>T" "ExAC 3, 121408, 0, 0.00002471" "{PMID:Maugeri 1999:10090887}" "" "5381C>A" "" "Germline" "" "" "0" "" "" "g.94014622G>T" "" "pathogenic" ""
"0000120133" "0" "70" "1" "94496571" "94496571" "subst" "4.06174E-6" "01695" "ABCA4_000111" "g.94496571G>A" "" "{PMID:Maugeri 1999:10090887}" "" "4200C>A" "" "Germline" "?" "" "0" "" "" "g.94031015G>A" "" "likely pathogenic" ""
"0000120134" "0" "90" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "ExAC 26, 121404, 0, 0.0002142" "{PMID:Maugeri 1999:10090887}" "" "6079C>T" "" "Germline" "" "" "0" "" "" "g.94005509G>A" "" "pathogenic" ""
"0000120135" "0" "70" "1" "94578583" "94578583" "del" "0" "01695" "ABCA4_000248" "g.94578583del" "" "{PMID:Maugeri 1999:10090887}" "" "108delT" "" "Germline" "?" "" "0" "" "" "g.94113027del" "" "likely pathogenic" ""
"0000120136" "3" "70" "1" "94586550" "94586550" "subst" "1.21864E-5" "01695" "ABCA4_000037" "g.94586550G>A" "ExAC 3, 121392, 0, 0.00002471" "{PMID:Maugeri 1999:10090887}" "" "52C>T" "" "Germline" "yes" "" "0" "" "" "g.94120994G>A" "" "likely pathogenic" ""
"0000120137" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Maugeri 1999:10090887}" "" "" "" "Germline" "" "rs61751374" "0" "" "" "g.94043413G>A" "" "pathogenic" ""
"0000120138" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Maugeri 1999:10090887}" "" "" "" "Germline" "" "rs61751392" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000120139" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "ExAC 42, 120772, 0, 0.0003478" "{PMID:Maugeri 1999:10090887}" "" "IVS40+5G>A" "" "Germline" "?" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic" ""
"0000120140" "0" "30" "1" "94486896" "94486896" "subst" "3.65562E-5" "01695" "ABCA4_000085" "g.94486896G>A" "ExAC 1, 121394, 0, 0.000008238" "{PMID:Maugeri 1999:10090887}" "" "4918C>T" "" "Germline" "?" "" "0" "" "" "g.94021340G>A" "" "likely benign" ""
"0000120141" "0" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "ExAC 173, 121304, 0, 0.001426" "{PMID:Maugeri 1999:10090887}" "" "3113C>T" "" "Germline" "" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic" ""
"0000120142" "0" "70" "1" "94476865" "94476865" "subst" "2.03107E-5" "01695" "ABCA4_000430" "g.94476865A>G" "ExAC 3, 121186, 0, 0.00002476" "{PMID:Maugeri 1999:10090887}" "" "5537T>C" "" "Germline" "" "" "0" "" "" "g.94011309A>G" "" "likely pathogenic" ""
"0000120143" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "ExAC 613, 121302, 4, 0.005054" "{PMID:Maugeri 1999:10090887}" "" "5882G>A" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000120144" "0" "70" "1" "94544897" "94544897" "subst" "0" "01695" "ABCA4_000330" "g.94544897G>A" "" "{PMID:Papaioannou 2000:10634594}" "" "C1220T" "" "Germline" "" "" "0" "" "" "g.94079341G>A" "" "likely pathogenic" ""
"0000120145" "0" "70" "1" "94544897" "94544897" "subst" "0" "01695" "ABCA4_000330" "g.94544897G>A" "" "{PMID:Papaioannou 2000:10634594}" "" "C1220T" "" "Germline" "" "" "0" "" "" "g.94079341G>A" "" "likely pathogenic" ""
"0000120146" "0" "70" "1" "94544897" "94544897" "subst" "0" "01695" "ABCA4_000330" "g.94544897G>A" "" "{PMID:Papaioannou 2000:10634594}" "" "C1220T" "" "Germline" "" "" "0" "" "" "g.94079341G>A" "" "likely pathogenic" ""
"0000120147" "0" "70" "1" "94544897" "94544897" "subst" "0" "01695" "ABCA4_000330" "g.94544897G>A" "" "{PMID:Papaioannou 2000:10634594}" "" "C1220T" "" "Germline" "" "" "0" "" "" "g.94079341G>A" "" "likely pathogenic" ""
"0000120148" "0" "70" "1" "94544897" "94544897" "subst" "0" "01695" "ABCA4_000330" "g.94544897G>A" "" "{PMID:Papaioannou 2000:10634594}" "" "C1220T" "" "Germline" "" "" "0" "" "" "g.94079341G>A" "" "likely pathogenic" ""
"0000120149" "21" "70" "1" "94544897" "94544897" "subst" "0" "01695" "ABCA4_000330" "g.94544897G>A" "" "{PMID:Papaioannou 2000:10634594}" "" "C1220T" "" "Germline" "-" "" "0" "" "" "g.94079341G>A" "" "likely pathogenic" ""
"0000120150" "10" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Papaioannou 2000:10634594}" "" "[G2588C (;) G2828A]" "" "Germline" "?" "rs76157638" "0" "" "" "g.94051698C>G" "" "likely pathogenic" ""
"0000120151" "21" "70" "1" "94544231" "94544231" "subst" "0" "01695" "ABCA4_000321" "g.94544231A>G" "" "{PMID:Papaioannou 2000:10634594}" "" "T1271T" "" "Germline" "-" "" "0" "" "" "g.94078675A>G" "" "likely pathogenic" ""
"0000120152" "10" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Papaioannou 2000:10634594}" "" "[G2588C (;) G2828A]" "" "Germline" "?" "rs76157638" "0" "" "" "g.94051698C>G" "" "likely pathogenic" ""
"0000120153" "0" "70" "1" "94544231" "94544231" "subst" "0" "01695" "ABCA4_000321" "g.94544231A>G" "" "{PMID:Papaioannou 2000:10634594}" "" "T1271T" "" "Germline" "" "" "0" "" "" "g.94078675A>G" "" "likely pathogenic" ""
"0000120154" "0" "50" "1" "94471056" "94471056" "subst" "2.84398E-5" "01695" "ABCA4_000050" "g.94471056G>A" "ExAC 3, 121402, 0, 0.00002471" "{PMID:Papaioannou 2000:10634594}" "" "C6088T" "" "Germline" "" "" "0" "" "" "g.94005500G>A" "" "VUS" ""
"0000120155" "0" "50" "1" "94466422" "94466422" "subst" "2.43651E-5" "01695" "ABCA4_000817" "g.94466422C>T" "ExAC 3, 121398, 0, 0.00002471" "{PMID:Papaioannou 2000:10634594}" "" "G6449A" "" "Germline" "" "" "0" "" "" "g.94000866C>T" "" "VUS" ""
"0000120156" "0" "50" "1" "94466422" "94466422" "subst" "2.43651E-5" "01695" "ABCA4_000817" "g.94466422C>T" "ExAC 3, 121398, 0, 0.00002471" "{PMID:Papaioannou 2000:10634594}" "" "G6449A" "" "Germline" "" "" "0" "" "" "g.94000866C>T" "" "VUS" ""
"0000120157" "21" "90" "1" "94577135" "94577135" "subst" "2.43718E-5" "01695" "ABCA4_000240" "g.94577135C>T" "ExAC 2, 121210, 0, 0.0000165" "{PMID:Papaioannou 2000:10634594}" "" "G161A" "" "Germline" "-" "" "0" "" "" "g.94111579C>T" "" "pathogenic" ""
"0000120158" "11" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Papaioannou 2000:10634594}" "" "[G2588C (;) G2828A]" "" "Germline" "?" "rs76157638" "0" "" "" "g.94051698C>G" "" "pathogenic" ""
"0000120159" "21" "90" "1" "94577135" "94577135" "subst" "2.43718E-5" "01695" "ABCA4_000240" "g.94577135C>T" "ExAC 2, 121210, 0, 0.0000165" "{PMID:Papaioannou 2000:10634594}" "" "G161A" "" "Germline" "-" "" "0" "" "" "g.94111579C>T" "" "pathogenic" ""
"0000120160" "11" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Papaioannou 2000:10634594}" "" "[G2588C (;) G2828A]" "" "Germline" "?" "rs76157638" "0" "" "" "g.94051698C>G" "" "pathogenic" ""
"0000120161" "21" "90" "1" "94577135" "94577135" "subst" "2.43718E-5" "01695" "ABCA4_000240" "g.94577135C>T" "ExAC 2, 121210, 0, 0.0000165" "{PMID:Papaioannou 2000:10634594}" "" "G161A" "" "Germline" "-" "" "0" "" "" "g.94111579C>T" "" "pathogenic" ""
"0000120162" "11" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Papaioannou 2000:10634594}" "" "[G2588C (;) G2828A]" "" "Germline" "?" "rs76157638" "0" "" "" "g.94051698C>G" "" "pathogenic" ""
"0000120163" "0" "50" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Papaioannou 2000:10634594}" "" "[G2588C (;) G2828A]" "" "Germline" "" "rs76157638" "0" "" "" "g.94051698C>G" "" "VUS" ""
"0000120164" "0" "50" "1" "94577010" "94577010" "subst" "1.22004E-5" "01695" "ABCA4_000224" "g.94577010T>C" "ExAC 3, 119734, 0, 0.00002506" "{PMID:Papaioannou 2000:10634594}" "" "A286G" "" "Germline" "" "" "0" "" "" "g.94111454T>C" "" "VUS" ""
"0000120165" "21" "70" "1" "94577010" "94577010" "subst" "4.06679E-6" "01695" "ABCA4_000225" "g.94577010T>G" "" "{PMID:Papaioannou 2000:10634594}" "" "A286C" "" "Germline" "-" "" "0" "" "" "g.94111454T>G" "" "likely pathogenic" ""
"0000120166" "10" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Papaioannou 2000:10634594}" "" "[G2588C (;) G2828A]" "" "Germline" "?" "rs76157638" "0" "" "" "g.94051698C>G" "" "likely pathogenic" ""
"0000120167" "0" "50" "1" "94568675" "94568675" "subst" "0.00146249" "01695" "ABCA4_000210" "g.94568675T>C" "ExAC 159, 120956, 0, 0.001315" "{PMID:Papaioannou 2000:10634594}" "" "A466G" "" "Germline" "" "" "0" "" "" "g.94103119T>C" "" "VUS" ""
"0000120168" "0" "50" "1" "94544167" "94544167" "subst" "8.12269E-6" "01695" "ABCA4_000316" "g.94544167G>C" "" "{PMID:Papaioannou 2000:10634594}" "" "C1335G" "" "Germline" "" "" "0" "" "" "g.94078611G>C" "" "VUS" ""
"0000120169" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "ExAC 6, 119038, 0, 0.0000504" "{PMID:Papaioannou 2000:10634594}" "" "C1804T" "" "Germline" "" "" "0" "" "" "g.94062710G>A" "" "pathogenic" ""
"0000120170" "0" "50" "1" "94522202" "94522202" "subst" "0" "01695" "ABCA4_000734" "g.94522202G>T" "" "{PMID:Papaioannou 2000:10634594}" "" "C2337A" "" "Germline" "" "" "0" "" "" "g.94056646G>T" "" "VUS" ""
"0000120171" "0" "50" "1" "94506895" "94506895" "del" "0" "01695" "ABCA4_000620" "g.94506895del" "" "{PMID:Papaioannou 2000:10634594}" "" "3392delC" "" "Germline" "" "" "0" "" "" "g.94041339del" "" "VUS" ""
"0000120172" "0" "50" "1" "94496050" "94496050" "subst" "0" "01695" "ABCA4_000555" "g.94496050A>G" "" "{PMID:Papaioannou 2000:10634594}" "" "T4286C" "" "Germline" "" "" "0" "" "" "g.94030494A>G" "" "VUS" ""
"0000120173" "0" "50" "1" "94487272" "94487272" "subst" "0" "01695" "ABCA4_000492" "g.94487272T>G" "" "{PMID:Papaioannou 2000:10634594}" "" "4774-2A3C" "" "Germline" "" "" "0" "" "" "g.94021716T>G" "" "VUS" ""
"0000120174" "0" "50" "1" "94487272" "94487272" "subst" "0" "01695" "ABCA4_000492" "g.94487272T>G" "" "{PMID:Papaioannou 2000:10634594}" "" "4774-2A3C" "" "Germline" "" "" "0" "" "" "g.94021716T>G" "" "VUS" ""
"0000120175" "0" "50" "1" "94486896" "94486896" "subst" "3.65562E-5" "01695" "ABCA4_000085" "g.94486896G>A" "ExAC 1, 121394, 0, 0.000008238" "{PMID:Papaioannou 2000:10634594}" "" "C4918T" "" "Germline" "" "" "0" "" "" "g.94021340G>A" "" "VUS" ""
"0000120176" "0" "50" "1" "94485227" "94485227" "subst" "0" "01695" "ABCA4_000473" "g.94485227G>C" "" "{PMID:Papaioannou 2000:10634594}" "" "C5107G; p.(Gln1703Lys)" "" "Germline" "" "" "0" "" "" "g.94019671G>C" "" "VUS" ""
"0000120177" "0" "50" "1" "94485173" "94485174" "del" "0" "01695" "ABCA4_000468" "g.94485173_94485174del" "" "{PMID:Papaioannou 2000:10634594}" "" "5161delAC" "" "Germline" "" "" "0" "" "" "g.94019617_94019618del" "" "VUS" ""
"0000120178" "0" "50" "1" "94480222" "94480222" "subst" "0" "01695" "ABCA4_000441" "g.94480222G>C" "" "{PMID:Papaioannou 2000:10634594}" "" "C5337G" "" "Germline" "" "" "0" "" "" "g.94014666G>C" "" "VUS" ""
"0000120179" "0" "50" "1" "94467407" "94467407" "subst" "0.0756573" "01695" "ABCA4_000846" "g.94467407C>T" "ExAC 9776, 120820, 683, 0.08091" "{PMID:Papaioannou 2000:10634594}" "" "6282+7G->A" "" "Germline" "" "" "0" "" "" "g.94001851C>T" "" "VUS" ""
"0000120180" "0" "50" "1" "94466392" "94466392" "subst" "0" "01695" "ABCA4_000815" "g.94466392T>C" "" "{PMID:Papaioannou 2000:10634594}" "" "A6479G" "" "Germline" "" "" "0" "" "" "g.94000836T>C" "" "VUS" ""
"0000120181" "0" "90" "1" "94586599" "94586601" "delins" "0" "01695" "ABCA4_000262" "g.94586599_94586601delinsGAC" "" "{PMID:Briggs 2001:11527935}" "" "ATG>GTC" "" "Germline" "" "" "0" "" "" "g.94121043_94121045delinsGAC" "" "pathogenic" ""
"0000120182" "11" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "ExAC 613, 121302, 4, 0.005054" "{PMID:Briggs 2001:11527935}" "" "GGA > GAA" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "pathogenic" ""
"0000120183" "21" "70" "1" "94577046" "94577049" "dup" "0" "01695" "ABCA4_000227" "g.94577046_94577049dup" "" "{PMID:Briggs 2001:11527935}" "" "251ins4" "" "Germline" "-" "" "0" "" "" "g.94111490_94111493dup" "" "likely pathogenic" ""
"0000120184" "11" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "ExAC 613, 121302, 4, 0.005054" "{PMID:Briggs 2001:11527935}" "" "GGA > GAA" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "pathogenic" ""
"0000120185" "21" "70" "1" "94577046" "94577049" "dup" "0" "01695" "ABCA4_000227" "g.94577046_94577049dup" "" "{PMID:Briggs 2001:11527935}" "" "251ins4" "" "Germline" "-" "" "0" "" "" "g.94111490_94111493dup" "" "likely pathogenic" ""
"0000120186" "0" "70" "1" "94568687" "94568687" "subst" "1.62641E-5" "01695" "ABCA4_000024" "g.94568687G>A" "ExAC 1, 120844, 0, 0.000008275" "{PMID:Briggs 2001:11527935}" "" "CGA > TGA" "" "Germline" "-" "" "0" "" "" "g.94103131G>A" "" "likely pathogenic" ""
"0000120187" "0" "90" "1" "94466625" "94466625" "subst" "1.62559E-5" "01695" "ABCA4_000839" "g.94466625G>A" "ExAC 2, 121244, 0, 0.0000165" "{PMID:Briggs 2001:11527935}" "" "CGC > TGC" "" "Germline" "?" "" "0" "" "" "g.94001069G>A" "" "pathogenic" ""
"0000120188" "0" "50" "1" "94564442" "94564454" "del" "0" "01695" "ABCA4_000377" "g.94564442_94564454del" "" "{PMID:Briggs 2001:11527935}" "" "666del[AAAGACGGTGCGC]" "" "Germline" "" "" "0" "" "" "g.94098886_94098898del" "" "VUS" ""
"0000120189" "0" "50" "1" "94564442" "94564454" "del" "0" "01695" "ABCA4_000377" "g.94564442_94564454del" "" "{PMID:Briggs 2001:11527935}" "" "666del[AAAGACGGTGCGC]" "" "Germline" "" "" "0" "" "" "g.94098886_94098898del" "" "VUS" ""
"0000120190" "11" "70" "1" "94495083" "94495083" "subst" "0.000124542" "01695" "ABCA4_000542" "g.94495083G>A" "ExAC 11, 77176, 0, 0.0001425" "{PMID:Briggs 2001:11527935}" "" "CCA > CTA" "" "Germline" "yes" "" "0" "" "" "g.94029527G>A" "" "likely pathogenic" ""
"0000120191" "21" "70" "1" "94497563" "94497563" "subst" "0.00492504" "01695" "ABCA4_000090" "g.94497563C>T" "" "{PMID:Briggs 2001:11527935}" "" "[832delT; CGA > CAA]" "" "Germline" "-" "" "0" "" "" "g.94032007C>T" "" "likely pathogenic" ""
"0000120192" "21" "70" "1" "94548934" "94548934" "del" "0" "01695" "ABCA4_000167" "g.94548934del" "" "{PMID:Briggs 2001:11527935}" "" "[832delT; CGA > CAA]" "" "Germline" "-" "" "0" "" "" "g.94083378del" "" "likely pathogenic" ""
"0000120193" "20" "90" "1" "94546067" "94546067" "subst" "0" "01695" "ABCA4_000336" "g.94546067T>A" "" "{PMID:Briggs 2001:11527935}" "" "AAG > TAG" "" "Germline" "-" "" "0" "" "" "g.94080511T>A" "" "pathogenic" ""
"0000120194" "11" "90" "1" "94495009" "94495009" "dup" "0" "01695" "ABCA4_000087" "g.94495009dup" "" "{PMID:Briggs 2001:11527935}" "" "4538insC" "" "Germline" "?" "" "0" "" "" "g.94029453dup" "" "pathogenic" ""
"0000120195" "0" "70" "1" "94528131" "94528131" "subst" "0" "01695" "ABCA4_000772" "g.94528131A>G" "" "{PMID:Briggs 2001:11527935}" "" "IVS13 + 2T > C" "" "Germline" "-" "" "0" "" "" "g.94062575A>G" "" "likely pathogenic" ""
"0000120196" "0" "90" "1" "94577066" "94577066" "subst" "0" "01695" "ABCA4_000230" "g.94577066A>T" "" "{PMID:Briggs 2001:11527935}" "" "GTG > CAG" "" "Germline" "?" "" "0" "" "" "g.94111510A>T" "" "pathogenic" ""
"0000120197" "0" "90" "1" "94496642" "94496642" "subst" "4.06398E-6" "01695" "ABCA4_000168" "g.94496642A>G" "ExAC 1, 119938, 0, 0.000008338" "{PMID:Briggs 2001:11527935}" "" "CTG > CCG" "" "Germline" "?" "" "0" "" "" "g.94031086A>G" "" "pathogenic" ""
"0000120198" "0" "70" "1" "94526212" "94526212" "subst" "1.22012E-5" "01695" "ABCA4_000075" "g.94526212G>A" "ExAC 3, 120836, 0, 0.00002483" "{PMID:Briggs 2001:11527935}" "" "CGA > TGA" "" "Germline" "-" "" "0" "" "" "g.94060656G>A" "" "likely pathogenic" ""
"0000120199" "0" "50" "1" "94508435" "94508436" "dup" "0" "01695" "ABCA4_000998" "g.94508435_94508436dup" "" "{PMID:Briggs 2001:11527935}" "" "3212insGT" "" "Germline" "" "" "0" "" "" "g.94042879_94042880dup" "" "VUS" ""
"0000120200" "0" "50" "1" "94508435" "94508436" "dup" "0" "01695" "ABCA4_000998" "g.94508435_94508436dup" "" "{PMID:Briggs 2001:11527935}" "" "3212insGT" "" "Germline" "" "" "0" "" "" "g.94042879_94042880dup" "" "VUS" ""
"0000120201" "0" "90" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "ExAC 24, 119274, 0, 0.0002012" "{PMID:Briggs 2001:11527935}" "" "CCG > CTG" "" "Germline" "-" "" "0" "" "" "g.94031110G>A" "" "pathogenic" ""
"0000120202" "0" "70" "1" "94506945" "94506945" "del" "0" "01695" "ABCA4_001516" "g.94506945del" "" "{PMID:Briggs 2001:11527935}" "" "Ile1114(delC)" "" "Germline" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000120203" "0" "90" "1" "94497427" "94497428" "dup" "0" "01695" "ABCA4_000579" "g.94497427_94497428dup" "" "{PMID:Briggs 2001:11527935}" "" "4034insCA" "" "Germline" "-" "" "0" "" "" "g.94031871_94031872dup" "" "pathogenic" ""
"0000120204" "0" "90" "1" "94502295" "94502295" "subst" "0" "01695" "ABCA4_000589" "g.94502295C>T" "" "{PMID:Briggs 2001:11527935}" "" "IVS26 + 1G > A" "" "Germline" "?" "" "0" "" "" "g.94036739C>T" "" "pathogenic" ""
"0000120205" "0" "50" "1" "94495009" "94495009" "dup" "0" "01695" "ABCA4_000087" "g.94495009dup" "" "{PMID:Briggs 2001:11527935}" "" "4538insC" "" "Germline" "" "" "0" "" "" "g.94029453dup" "" "VUS" ""
"0000120206" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "ExAC 613, 121302, 4, 0.005054" "{PMID:Briggs 2001:11527935}" "" "GGA > GAA" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "pathogenic" ""
"0000120207" "0" "70" "1" "94487468" "94487468" "del" "0" "01695" "ABCA4_000169" "g.94487468del" "" "{PMID:Briggs 2001:11527935}" "" "4710delC" "" "Germline" "-" "" "0" "" "" "g.94021912del" "" "likely pathogenic" ""
"0000120208" "0" "90" "1" "94490567" "94490567" "subst" "5.68528E-5" "01695" "ABCA4_000026" "g.94490567G>A" "ExAC 4, 121406, 0, 0.00003295" "{PMID:Briggs 2001:11527935}" "" "ACG > ATG" "" "Germline" "?" "" "0" "" "" "g.94025011G>A" "" "pathogenic" ""
"0000120209" "0" "70" "1" "94485173" "94485174" "del" "0" "01695" "ABCA4_000468" "g.94485173_94485174del" "" "{PMID:Briggs 2001:11527935}" "" "delete AC @ nt 5161" "" "Germline" "-" "" "0" "" "" "g.94019617_94019618del" "" "likely pathogenic" ""
"0000120210" "21" "90" "1" "94485137" "94485137" "subst" "0" "01695" "ABCA4_000464" "g.94485137C>T" "ExAC 3, 49858, 0, 0.00006017" "{PMID:Briggs 2001:11527935}" "" "IVS36 + 1G > A" "" "Germline" "-" "" "0" "" "" "g.94019581C>T" "" "pathogenic" ""
"0000120211" "10" "90" "1" "94577046" "94577049" "dup" "0" "01695" "ABCA4_000227" "g.94577046_94577049dup" "" "{PMID:Briggs 2001:11527935}" "" "251ins4" "" "Germline" "?" "" "0" "" "" "g.94111490_94111493dup" "" "pathogenic" ""
"0000120212" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "ExAC 613, 121302, 4, 0.005054" "{PMID:Briggs 2001:11527935}" "" "GGA > GAA" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "pathogenic" ""
"0000120213" "0" "70" "1" "94481373" "94481383" "del" "0" "01695" "ABCA4_000458" "g.94481373_94481383del" "" "{PMID:Briggs 2001:11527935}" "" "5194del11 [GTGGTGGGCAT]" "Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message." "Germline" "-" "" "0" "" "" "g.94015817_94015827del" "" "likely pathogenic" ""
"0000120214" "0" "50" "1" "94480243" "94480243" "subst" "4.06124E-6" "01695" "ABCA4_000448" "g.94480243C>T" "ExAC 1, 121408, 0, 0.000008237" "{PMID:Briggs 2001:11527935}" "" "TGG > TGA" "" "Germline" "" "" "0" "" "" "g.94014687C>T" "" "VUS" ""
"0000120215" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "ExAC 613, 121302, 4, 0.005054" "{PMID:Briggs 2001:11527935}" "" "GGA > GAA" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "pathogenic" ""
"0000120216" "0" "70" "1" "94473855" "94473855" "del" "4.06105E-6" "01695" "ABCA4_000404" "g.94473855del" "" "{PMID:Briggs 2001:11527935}" "" "IVS41-2delA" "" "Germline" "-" "" "0" "" "" "g.94008299del" "" "likely pathogenic" ""
"0000120217" "3" "90" "1" "94473278" "94473278" "del" "3.25908E-5" "01695" "ABCA4_000392" "g.94473278del" "" "{PMID:Briggs 2001:11527935}" "" "5917delG" "" "Germline" "yes" "" "0" "" "" "g.94007722del" "" "pathogenic" ""
"0000120218" "21" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "ExAC 613, 121302, 4, 0.005054" "{PMID:Briggs 2001:11527935}" "" "GGA > GAA" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "pathogenic" ""
"0000120219" "11" "70" "1" "94466646" "94466646" "del" "0" "01695" "ABCA4_000170" "g.94466646del" "" "{PMID:Briggs 2001:11527935}" "" "6300delG" "" "Germline" "-" "" "0" "" "" "g.94001090del" "" "likely pathogenic" ""
"0000120220" "11" "90" "1" "94577135" "94577135" "subst" "2.43718E-5" "01695" "ABCA4_000240" "g.94577135C>T" "ExAC 2, 121210, 0, 0.0000165" "{PMID:Briggs 2001:11527935}" "" "TGC > TAC" "" "Germline" "-" "" "0" "" "" "g.94111579C>T" "" "pathogenic" ""
"0000120221" "21" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "ExAC 601, 118484, 2, 0.005072" "{PMID:Briggs 2001:11527935}" "" "GGA > GCA" "" "Germline" "yes" "rs76157638" "0" "" "" "g.94051698C>G" "" "pathogenic" ""
"0000120222" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "ExAC 14, 121282, 0, 0.0001154" "{PMID:Briggs 2001:11527935}" "" "CGC > TGC" "" "Germline" "?" "" "0" "" "" "g.94042767G>A" "" "pathogenic" ""
"0000120223" "0" "70" "1" "94577135" "94577135" "subst" "2.43718E-5" "01695" "ABCA4_000240" "g.94577135C>T" "ExAC 2, 121210, 0, 0.0000165" "{PMID:Briggs 2001:11527935}" "" "TGC > TAC" "" "Germline" "-" "" "0" "" "" "g.94111579C>T" "" "likely pathogenic" ""
"0000120224" "0" "90" "1" "94512589" "94512589" "subst" "4.06184E-6" "01695" "ABCA4_000696" "g.94512589A>G" "ExAC 1, 121032, 0, 0.000008262" "{PMID:Briggs 2001:11527935}" "" "GTA > GCA" "" "Germline" "?" "" "0" "" "" "g.94047033A>G" "" "pathogenic" ""
"0000120225" "0" "70" "1" "94577135" "94577135" "subst" "2.43718E-5" "01695" "ABCA4_000240" "g.94577135C>T" "ExAC 2, 121210, 0, 0.0000165" "{PMID:Briggs 2001:11527935}" "" "TGC > TAC" "" "Germline" "-" "" "0" "" "" "g.94111579C>T" "" "likely pathogenic" ""
"0000120226" "0" "70" "1" "94505604" "94505604" "subst" "0.00645586" "01695" "ABCA4_000092" "g.94505604A>C" "ExAC 879, 64452, 44, 0.01364" "{PMID:Briggs 2001:11527935}" "" "CTG > CGG" "" "Germline" "?" "" "0" "" "" "g.94040048A>C" "" "likely pathogenic" ""
"0000120227" "0" "30" "1" "94577122" "94577122" "subst" "0" "01695" "ABCA4_000175" "g.94577122G>C" "" "{PMID:Briggs 2001:11527935}" "" "AAC > AAG" "" "Germline" "-" "" "0" "" "" "g.94111566G>C" "" "likely benign" ""
"0000120228" "0" "70" "1" "94505604" "94505604" "subst" "0.00645586" "01695" "ABCA4_000092" "g.94505604A>C" "ExAC 879, 64452, 44, 0.01364" "{PMID:Briggs 2001:11527935}" "" "CTG > CGG" "" "Germline" "?" "" "0" "" "" "g.94040048A>C" "" "likely pathogenic" ""
"0000120229" "0" "30" "1" "94577122" "94577122" "subst" "0" "01695" "ABCA4_000175" "g.94577122G>C" "" "{PMID:Briggs 2001:11527935}" "" "AAC > AAG" "" "Germline" "-" "" "0" "" "" "g.94111566G>C" "" "likely benign" ""
"0000120230" "0" "70" "1" "94505604" "94505604" "subst" "0.00645586" "01695" "ABCA4_000092" "g.94505604A>C" "ExAC 879, 64452, 44, 0.01364" "{PMID:Briggs 2001:11527935}" "" "CTG > CGG" "" "Germline" "?" "" "0" "" "" "g.94040048A>C" "" "likely pathogenic" ""
"0000120231" "0" "30" "1" "94577122" "94577122" "subst" "0" "01695" "ABCA4_000175" "g.94577122G>C" "" "{PMID:Briggs 2001:11527935}" "" "AAC > AAG" "" "Germline" "-" "" "0" "" "" "g.94111566G>C" "" "likely benign" ""
"0000120232" "0" "50" "1" "94577117" "94577117" "subst" "1.62472E-5" "01695" "ABCA4_000237" "g.94577117G>A" "ExAC 1, 121292, 0, 0.000008245" "{PMID:Briggs 2001:11527935}" "" "GCG > GTG" "" "Germline" "" "" "0" "" "" "g.94111561G>A" "" "VUS" ""
"0000120233" "0" "50" "1" "94577102" "94577102" "subst" "4.06161E-6" "01695" "ABCA4_000033" "g.94577102C>T" "" "{PMID:Briggs 2001:11527935}" "" "GGA > GAA" "" "Germline" "" "" "0" "" "" "g.94111546C>T" "" "VUS" ""
"0000120234" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "ExAC 613, 121302, 4, 0.005054" "{PMID:Briggs 2001:11527935}" "" "GGA > GAA" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000120235" "0" "70" "1" "94568571" "94568571" "subst" "0" "01695" "ABCA4_000172" "g.94568571C>G" "" "{PMID:Briggs 2001:11527935}" "" "CAG > CAC" "" "Germline" "-" "" "0" "" "" "g.94103015C>G" "" "likely pathogenic" ""
"0000120236" "3" "70" "1" "94564387" "94564387" "subst" "4.06111E-6" "01695" "ABCA4_000372" "g.94564387A>G" "ExAC 1, 121328, 0, 0.000008242" "{PMID:Briggs 2001:11527935}" "" "CTG > CCG" "" "Germline" "yes" "" "0" "" "" "g.94098831A>G" "" "likely pathogenic" ""
"0000120237" "3" "70" "1" "94564387" "94564387" "subst" "4.06111E-6" "01695" "ABCA4_000372" "g.94564387A>G" "ExAC 1, 121328, 0, 0.000008242" "{PMID:Briggs 2001:11527935}" "" "CTG > CCG" "" "Germline" "yes" "" "0" "" "" "g.94098831A>G" "" "likely pathogenic" ""
"0000120238" "3" "70" "1" "94564387" "94564387" "subst" "4.06111E-6" "01695" "ABCA4_000372" "g.94564387A>G" "ExAC 1, 121328, 0, 0.000008242" "{PMID:Briggs 2001:11527935}" "" "CTG > CCG" "" "Germline" "yes" "" "0" "" "" "g.94098831A>G" "" "likely pathogenic" ""
"0000120239" "3" "70" "1" "94564387" "94564387" "subst" "4.06111E-6" "01695" "ABCA4_000372" "g.94564387A>G" "ExAC 1, 121328, 0, 0.000008242" "{PMID:Briggs 2001:11527935}" "" "CTG > CCG" "" "Germline" "yes" "" "0" "" "" "g.94098831A>G" "" "likely pathogenic" ""
"0000120240" "3" "70" "1" "94564387" "94564387" "subst" "4.06111E-6" "01695" "ABCA4_000372" "g.94564387A>G" "ExAC 1, 121328, 0, 0.000008242" "{PMID:Briggs 2001:11527935}" "" "CTG > CCG" "" "Germline" "yes" "" "0" "" "" "g.94098831A>G" "" "likely pathogenic" ""
"0000120241" "0" "70" "1" "94476865" "94476865" "subst" "2.03107E-5" "01695" "ABCA4_000430" "g.94476865A>G" "ExAC 3, 121186, 0, 0.00002476" "{PMID:Briggs 2001:11527935}" "" "ATT > ACT" "" "Germline" "?" "" "0" "" "" "g.94011309A>G" "" "likely pathogenic" ""
"0000120242" "0" "70" "1" "94528854" "94528854" "subst" "0" "01695" "ABCA4_000186" "g.94528854A>C" "" "{PMID:Briggs 2001:11527935}" "" "TTT > TGT" "" "Germline" "-" "" "0" "" "" "g.94063298A>C" "" "likely pathogenic" ""
"0000120243" "21" "70" "1" "94528819" "94528819" "subst" "2.03128E-5" "01695" "ABCA4_000078" "g.94528819G>A" "ExAC 2, 121412, 0, 0.00001647" "{PMID:Briggs 2001:11527935}" "" "CGT > TGT" "" "Germline" "-" "" "0" "" "" "g.94063263G>A" "" "likely pathogenic" ""
"0000120244" "11" "70" "1" "94510253" "94510253" "subst" "0.000247694" "01695" "ABCA4_000108" "g.94510253A>G" "ExAC 36, 121412, 0, 0.0002965" "{PMID:Briggs 2001:11527935}" "" "GTT > GCT" "" "Germline" "yes" "" "0" "" "" "g.94044697A>G" "" "likely pathogenic" ""
"0000120245" "21" "70" "1" "94528819" "94528819" "subst" "2.03128E-5" "01695" "ABCA4_000078" "g.94528819G>A" "ExAC 2, 121412, 0, 0.00001647" "{PMID:Briggs 2001:11527935}" "" "CGT > TGT" "" "Germline" "-" "" "0" "" "" "g.94063263G>A" "" "likely pathogenic" ""
"0000120246" "11" "70" "1" "94510253" "94510253" "subst" "0.000247694" "01695" "ABCA4_000108" "g.94510253A>G" "ExAC 36, 121412, 0, 0.0002965" "{PMID:Briggs 2001:11527935}" "" "GTT > GCT" "" "Germline" "yes" "" "0" "" "" "g.94044697A>G" "" "likely pathogenic" ""
"0000120247" "0" "90" "1" "94528819" "94528819" "subst" "2.03128E-5" "01695" "ABCA4_000078" "g.94528819G>A" "ExAC 2, 121412, 0, 0.00001647" "{PMID:Briggs 2001:11527935}" "" "CGT > TGT" "" "Germline" "-" "" "0" "" "" "g.94063263G>A" "" "pathogenic" ""
"0000120248" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "ExAC 601, 118484, 2, 0.005072" "{PMID:Briggs 2001:11527935}" "" "GGA > GCA" "" "Germline" "?" "rs76157638" "0" "" "" "g.94051698C>G" "" "likely pathogenic" ""
"0000120249" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "ExAC 15, 121412, 0, 0.0001235" "{PMID:Briggs 2001:11527935}" "" "CTA > CCA" "" "Germline" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000120250" "21" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "ExAC 15, 121412, 0, 0.0001235" "{PMID:Briggs 2001:11527935}" "" "CTA > CCA" "" "Germline" "-" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000120251" "11" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "ExAC 26, 121404, 0, 0.0002142" "{PMID:Briggs 2001:11527935}" "" "CTC > TTC" "" "Germline" "yes" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic" ""
"0000120252" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "ExAC 15, 121412, 0, 0.0001235" "{PMID:Briggs 2001:11527935}" "" "CTA > CCA" "" "Germline" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000120253" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "ExAC 15, 121412, 0, 0.0001235" "{PMID:Briggs 2001:11527935}" "" "CTA > CCA" "" "Germline" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000120254" "21" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "ExAC 601, 118484, 2, 0.005072" "{PMID:Briggs 2001:11527935}" "" "GGA > GCA" "" "Germline" "yes" "rs76157638" "0" "" "" "g.94051698C>G" "" "likely pathogenic" ""
"0000120255" "11" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Briggs 2001:11527935}" "" "[CTA > CCA; GCC > GTC]" "" "Germline" "-" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000120256" "11" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Briggs 2001:11527935}" "" "[CTA > CCA; GCC > GTC]" "" "Germline" "-" "" "0" "" "" "g.94043413G>A" "" "pathogenic" ""
"0000120257" "21" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "ExAC 601, 118484, 2, 0.005072" "{PMID:Briggs 2001:11527935}" "" "GGA > GCA" "" "Germline" "?" "rs76157638" "0" "" "" "g.94051698C>G" "" "likely pathogenic" ""
"0000120258" "10" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Briggs 2001:11527935}" "" "[CTA > CCA; GCC > GTC]" "" "Germline" "-" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000120259" "10" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Briggs 2001:11527935}" "" "[CTA > CCA; GCC > GTC]" "" "Germline" "-" "" "0" "" "" "g.94043413G>A" "" "pathogenic" ""
"0000120260" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "ExAC 613, 121302, 4, 0.005054" "{PMID:Briggs 2001:11527935}" "" "GGA > GAA" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000120261" "0" "70" "1" "94528783" "94528783" "subst" "0" "01695" "ABCA4_000173" "g.94528783C>G" "" "{PMID:Briggs 2001:11527935}" "" "GCC > CCC" "" "Germline" "-" "" "0" "" "" "g.94063227C>G" "" "likely pathogenic" ""
"0000120262" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "ExAC 613, 121302, 4, 0.005054" "{PMID:Briggs 2001:11527935}" "" "GGA > GAA" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000120263" "0" "70" "1" "94528783" "94528783" "subst" "0" "01695" "ABCA4_000173" "g.94528783C>G" "" "{PMID:Briggs 2001:11527935}" "" "GCC > CCC" "" "Germline" "-" "" "0" "" "" "g.94063227C>G" "" "likely pathogenic" ""
"0000120264" "0" "70" "1" "94528780" "94528780" "subst" "4.06171E-6" "01695" "ABCA4_000299" "g.94528780C>T" "ExAC 1, 121410, 0, 0.000008237" "{PMID:Briggs 2001:11527935}" "" "GGA > AGA" "" "Germline" "" "" "0" "" "" "g.94063224C>T" "" "likely pathogenic" ""
"0000120265" "0" "70" "1" "94528143" "94528143" "subst" "0.00124448" "01695" "ABCA4_000076" "g.94528143C>T" "ExAC 196, 121108, 1, 0.001618" "{PMID:Briggs 2001:11527935}" "" "GTG > ATG" "" "Germline" "?" "" "0" "" "" "g.94062587C>T" "" "likely pathogenic" ""
"0000120266" "0" "30" "1" "94528265" "94528265" "subst" "2.44212E-5" "01695" "ABCA4_000284" "g.94528265C>T" "ExAC 2, 119074, 0, 0.0000168" "{PMID:Briggs 2001:11527935}" "" "CGG > CAG" "" "Germline" "-" "" "0" "" "" "g.94062709C>T" "" "likely benign" ""
"0000120267" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "ExAC 26, 121404, 0, 0.0002142" "{PMID:Briggs 2001:11527935}" "" "CTC > TTC" "" "Germline" "?" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic" ""
"0000120268" "0" "70" "1" "94528251" "94528251" "subst" "2.84824E-5" "01695" "ABCA4_000281" "g.94528251C>T" "ExAC 3, 119908, 0, 0.00002502" "{PMID:Briggs 2001:11527935}" "" "GGG > AGG" "" "Germline" "-" "" "0" "" "" "g.94062695C>T" "" "likely pathogenic" ""
"0000120269" "0" "70" "1" "94522239" "94522239" "subst" "2.03305E-5" "01695" "ABCA4_000736" "g.94522239A>T" "ExAC 1, 119332, 0, 0.00000838" "{PMID:Briggs 2001:11527935}" "" "GTC > GAG" "" "Germline" "-" "" "0" "" "" "g.94056683A>T" "" "likely pathogenic" ""
"0000120270" "0" "70" "1" "94495083" "94495083" "subst" "0.000124542" "01695" "ABCA4_000542" "g.94495083G>A" "ExAC 11, 77176, 0, 0.0001425" "{PMID:Briggs 2001:11527935}" "" "CCA > CTA" "" "Germline" "?" "" "0" "" "" "g.94029527G>A" "" "likely pathogenic" ""
"0000120271" "0" "30" "1" "94522239" "94522239" "subst" "2.03305E-5" "01695" "ABCA4_000736" "g.94522239A>T" "ExAC 1, 119332, 0, 0.00000838" "{PMID:Briggs 2001:11527935}" "" "GTC > GAG" "" "Germline" "-" "" "0" "" "" "g.94056683A>T" "" "likely benign" ""
"0000120272" "0" "70" "1" "94487490" "94487490" "subst" "0.00122268" "01695" "ABCA4_000506" "g.94487490A>G" "ExAC 158, 121114, 0, 0.001305" "{PMID:Briggs 2001:11527935}" "" "ATT > ACT" "On its own not significantely found more often in published STGD compared to ExAC (p-value 0.92). However, together with other non-significant variants published related to STGD, they are significantly more often in STGD patients (p-value <0.01)." "Germline" "?" "" "0" "" "" "g.94021934A>G" "" "likely pathogenic" ""
"0000120273" "0" "70" "1" "94495083" "94495083" "subst" "0.000124542" "01695" "ABCA4_000542" "g.94495083G>A" "ExAC 11, 77176, 0, 0.0001425" "{PMID:Briggs 2001:11527935}" "" "CCA > CTA" "" "Germline" "?" "" "0" "" "" "g.94029527G>A" "" "likely pathogenic" ""
"0000120274" "0" "70" "1" "94520864" "94520864" "subst" "0" "01695" "ABCA4_000166" "g.94520864A>G" "" "{PMID:Briggs 2001:11527935}" "" "CTG > CCG" "" "Germline" "-" "" "0" "" "" "g.94055308A>G" "" "likely pathogenic" ""
"0000120275" "0" "50" "1" "94520793" "94520793" "subst" "8.13292E-6" "01695" "ABCA4_000723" "g.94520793A>T" "ExAC 1, 121346, 0, 0.000008241" "{PMID:Briggs 2001:11527935}" "" "TGG > AGG" "" "Germline" "" "" "0" "" "" "g.94055237A>T" "" "VUS" ""
"0000120276" "10" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "ExAC 613, 121302, 4, 0.005054" "{PMID:Briggs 2001:11527935}" "" "GGA > GAA" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000120277" "21" "70" "1" "94520784" "94520784" "subst" "0" "01695" "ABCA4_000174" "g.94520784T>C" "" "{PMID:Briggs 2001:11527935}" "" "ATC > ACC" "" "Germline" "-" "" "0" "" "" "g.94055228T>C" "" "likely pathogenic" ""
"0000120278" "0" "50" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "ExAC 601, 118484, 2, 0.005072" "{PMID:Briggs 2001:11527935}" "" "GGA > GCA" "" "Germline" "" "rs76157638" "0" "" "" "g.94051698C>G" "" "VUS" ""
"0000120279" "0" "50" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "ExAC 601, 118484, 2, 0.005072" "{PMID:Briggs 2001:11527935}" "" "GGA > GCA" "" "Germline" "" "rs76157638" "0" "" "" "g.94051698C>G" "" "VUS" ""
"0000120280" "0" "90" "1" "94495078" "94495078" "subst" "8.37044E-6" "01695" "ABCA4_000042" "g.94495078A>G" "ExAC 1, 70400, 0, 0.0000142" "{PMID:Briggs 2001:11527935}" "" "TGC > CGC" "" "Germline" "?" "" "0" "" "" "g.94029522A>G" "" "pathogenic" ""
"0000120281" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "ExAC 601, 118484, 2, 0.005072" "{PMID:Briggs 2001:11527935}" "" "GGA > GCA" "" "Germline" "-" "rs76157638" "0" "" "" "g.94051698C>G" "" "likely pathogenic" ""
"0000120282" "21" "90" "1" "94490567" "94490567" "subst" "5.68528E-5" "01695" "ABCA4_000026" "g.94490567G>A" "ExAC 4, 121406, 0, 0.00003295" "{PMID:Briggs 2001:11527935}" "" "ACG > ATG" "" "Germline" "yes" "" "0" "" "" "g.94025011G>A" "" "pathogenic" ""
"0000120283" "10" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "ExAC 601, 118484, 2, 0.005072" "{PMID:Briggs 2001:11527935}" "" "GGA > GCA" "" "Germline" "-" "rs76157638" "0" "" "" "g.94051698C>G" "" "likely pathogenic" ""
"0000120284" "11" "70" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "ExAC 14, 121282, 0, 0.0001154" "{PMID:Briggs 2001:11527935}" "" "CGC > CTC" "" "Germline" "?" "" "0" "" "" "g.94042767G>A" "" "likely pathogenic" ""
"0000120285" "21" "70" "1" "94512566" "94512566" "subst" "7.31149E-5" "01695" "ABCA4_000693" "g.94512566G>A" "ExAC 6, 121172, 0, 0.00004952" "{PMID:Briggs 2001:11527935}" "" "CGG > TGG" "" "Germline" "-" "" "0" "" "" "g.94047010G>A" "" "likely pathogenic" ""
"0000120286" "0" "50" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "ExAC 14, 121282, 0, 0.0001154" "{PMID:Briggs 2001:11527935}" "" "CGC > TGC" "" "Germline" "" "" "0" "" "" "g.94042767G>A" "" "VUS" ""
"0000120287" "0" "50" "1" "94506923" "94506923" "subst" "2.43657E-5" "01695" "ABCA4_000012" "g.94506923C>T" "ExAC 3, 121394, 0, 0.00002471" "{PMID:Briggs 2001:11527935}" "" "GAG > AAG" "" "Germline" "" "" "0" "" "" "g.94041367C>T" "" "VUS" ""
"0000120288" "0" "50" "1" "94506923" "94506923" "subst" "2.43657E-5" "01695" "ABCA4_000012" "g.94506923C>T" "ExAC 3, 121394, 0, 0.00002471" "{PMID:Briggs 2001:11527935}" "" "GAG > AAG" "" "Germline" "" "" "0" "" "" "g.94041367C>T" "" "VUS" ""
"0000120289" "0" "50" "1" "94497563" "94497563" "subst" "0.00492504" "01695" "ABCA4_000090" "g.94497563C>T" "ExAC 757, 118654, 27, 0.00638" "{PMID:Briggs 2001:11527935}" "" "CGA > CAA" "" "Germline" "" "" "0" "" "" "g.94032007C>T" "" "VUS" ""
"0000120290" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "ExAC 24, 119274, 0, 0.0002012" "{PMID:Briggs 2001:11527935}" "" "CCG > CTG" "" "Germline" "-" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic" ""
"0000120291" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "ExAC 613, 121302, 4, 0.005054" "{PMID:Briggs 2001:11527935}" "" "GGA > GAA" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000120292" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "ExAC 24, 119274, 0, 0.0002012" "{PMID:Briggs 2001:11527935}" "" "CCG > CTG" "" "Germline" "-" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic" ""
"0000120293" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "ExAC 613, 121302, 4, 0.005054" "{PMID:Briggs 2001:11527935}" "" "GGA > GAA" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000120294" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "ExAC 24, 119274, 0, 0.0002012" "{PMID:Briggs 2001:11527935}" "" "CCG > CTG" "" "Germline" "-" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic" ""
"0000120295" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "ExAC 613, 121302, 4, 0.005054" "{PMID:Briggs 2001:11527935}" "" "GGA > GAA" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000120296" "0" "50" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "ExAC 24, 119274, 0, 0.0002012" "{PMID:Briggs 2001:11527935}" "" "CCG > CTG" "" "Germline" "" "" "0" "" "" "g.94031110G>A" "" "VUS" ""
"0000120297" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "ExAC 24, 119274, 0, 0.0002012" "{PMID:Briggs 2001:11527935}" "" "CCG > CTG" "" "Germline" "-" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic" ""
"0000120298" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "ExAC 26, 121404, 0, 0.0002142" "{PMID:Briggs 2001:11527935}" "" "CTC > TTC" "" "Germline" "?" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic" ""
"0000120299" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "ExAC 24, 119274, 0, 0.0002012" "{PMID:Briggs 2001:11527935}" "" "CCG > CTG" "" "Germline" "-" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic" ""
"0000120300" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "ExAC 613, 121302, 4, 0.005054" "{PMID:Briggs 2001:11527935}" "" "GGA > GAA" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000120301" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "ExAC 24, 119274, 0, 0.0002012" "{PMID:Briggs 2001:11527935}" "" "CCG > CTG" "" "Germline" "-" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic" ""
"0000120302" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "ExAC 26, 121404, 0, 0.0002142" "{PMID:Briggs 2001:11527935}" "" "CTC > TTC" "" "Germline" "?" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic" ""
"0000120303" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "ExAC 24, 119274, 0, 0.0002012" "{PMID:Briggs 2001:11527935}" "" "CCG > CTG" "" "Germline" "-" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic" ""
"0000120304" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "ExAC 613, 121302, 4, 0.005054" "{PMID:Briggs 2001:11527935}" "" "GGA > GAA" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000120305" "0" "70" "1" "94496583" "94496583" "subst" "2.03092E-5" "01695" "ABCA4_000190" "g.94496583A>G" "ExAC 1, 120898, 0, 0.000008271" "{PMID:Briggs 2001:11527935}" "" "TGG > CGG" "" "Germline" "-" "" "0" "" "" "g.94031027A>G" "" "likely pathogenic" ""
"0000120306" "0" "70" "1" "94486896" "94486896" "subst" "3.65562E-5" "01695" "ABCA4_000085" "g.94486896G>A" "ExAC 1, 121394, 0, 0.000008238" "{PMID:Briggs 2001:11527935}" "" "CGG > TGG" "" "Germline" "?" "" "0" "" "" "g.94021340G>A" "" "likely pathogenic" ""
"0000120307" "0" "70" "1" "94496583" "94496583" "subst" "2.03092E-5" "01695" "ABCA4_000190" "g.94496583A>G" "ExAC 1, 120898, 0, 0.000008271" "{PMID:Briggs 2001:11527935}" "" "TGG > CGG" "" "Germline" "-" "" "0" "" "" "g.94031027A>G" "" "likely pathogenic" ""
"0000120308" "0" "70" "1" "94486896" "94486896" "subst" "3.65562E-5" "01695" "ABCA4_000085" "g.94486896G>A" "ExAC 1, 121394, 0, 0.000008238" "{PMID:Briggs 2001:11527935}" "" "CGG > TGG" "" "Germline" "?" "" "0" "" "" "g.94021340G>A" "" "likely pathogenic" ""
"0000120309" "0" "70" "1" "94490550" "94490550" "subst" "0.000105588" "01695" "ABCA4_000523" "g.94490550C>T" "ExAC 11, 121406, 0, 0.00009061" "{PMID:Briggs 2001:11527935}" "" "GAC > AAC" "" "Germline" "?" "" "0" "" "" "g.94024994C>T" "" "likely pathogenic" ""
"0000120310" "0" "70" "1" "94495083" "94495083" "subst" "0.000124542" "01695" "ABCA4_000542" "g.94495083G>A" "ExAC 11, 77176, 0, 0.0001425" "{PMID:Briggs 2001:11527935}" "" "CCA > CTA" "" "Germline" "-" "" "0" "" "" "g.94029527G>A" "" "likely pathogenic" ""
"0000120311" "0" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "ExAC 12, 60116, 0, 0.0001996" "{PMID:Briggs 2001:11527935}" "" "TGC > TAC" "" "Germline" "-" "" "0" "" "" "g.94029515C>T" "" "likely pathogenic" ""
"0000120312" "0" "70" "1" "94476865" "94476865" "subst" "2.03107E-5" "01695" "ABCA4_000430" "g.94476865A>G" "ExAC 3, 121186, 0, 0.00002476" "{PMID:Briggs 2001:11527935}" "" "ATT > ACT" "" "Germline" "?" "" "0" "" "" "g.94011309A>G" "" "likely pathogenic" ""
"0000120313" "0" "70" "1" "94466456" "94466456" "subst" "8.1217E-6" "01695" "ABCA4_000181" "g.94466456G>A" "ExAC 1, 121406, 0, 0.000008237" "{PMID:Briggs 2001:11527935}" "" "CGG > TGG" "" "Germline" "?" "" "0" "" "" "g.94000900G>A" "" "likely pathogenic" ""
"0000120314" "0" "70" "1" "94490567" "94490567" "subst" "5.68528E-5" "01695" "ABCA4_000026" "g.94490567G>A" "ExAC 4, 121406, 0, 0.00003295" "{PMID:Briggs 2001:11527935}" "" "ACG > ATG" "" "Germline" "-" "" "0" "" "" "g.94025011G>A" "" "likely pathogenic" ""
"0000120315" "0" "50" "1" "94490567" "94490567" "subst" "5.68528E-5" "01695" "ABCA4_000026" "g.94490567G>A" "ExAC 4, 121406, 0, 0.00003295" "{PMID:Briggs 2001:11527935}" "" "ACG > ATG" "" "Germline" "" "" "0" "" "" "g.94025011G>A" "" "VUS" ""
"0000120316" "0" "50" "1" "94490567" "94490567" "subst" "5.68528E-5" "01695" "ABCA4_000026" "g.94490567G>A" "ExAC 4, 121406, 0, 0.00003295" "{PMID:Briggs 2001:11527935}" "" "ACG > ATG" "" "Germline" "" "" "0" "" "" "g.94025011G>A" "" "VUS" ""
"0000120317" "0" "70" "1" "94490550" "94490550" "subst" "0.000105588" "01695" "ABCA4_000523" "g.94490550C>T" "ExAC 11, 121406, 0, 0.00009061" "{PMID:Briggs 2001:11527935}" "" "GAC > AAC" "" "Germline" "-" "" "0" "" "" "g.94024994C>T" "" "likely pathogenic" ""
"0000120318" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "ExAC 613, 121302, 4, 0.005054" "{PMID:Briggs 2001:11527935}" "" "GGA > GAA" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000120319" "0" "50" "1" "94490550" "94490550" "subst" "0.000105588" "01695" "ABCA4_000523" "g.94490550C>T" "ExAC 11, 121406, 0, 0.00009061" "{PMID:Briggs 2001:11527935}" "" "GAC > AAC" "" "Germline" "" "" "0" "" "" "g.94024994C>T" "" "VUS" ""
"0000120320" "3" "70" "1" "94486895" "94486895" "subst" "3.24923E-5" "01695" "ABCA4_000484" "g.94486895C>T" "ExAC 1, 121394, 0, 0.000008238" "{PMID:Briggs 2001:11527935}" "" "CGG > CAG" "" "Germline" "" "" "0" "" "" "g.94021339C>T" "" "likely pathogenic" ""
"0000120321" "3" "70" "1" "94486895" "94486895" "subst" "3.24923E-5" "01695" "ABCA4_000484" "g.94486895C>T" "ExAC 1, 121394, 0, 0.000008238" "{PMID:Briggs 2001:11527935}" "" "CGG > CAG" "" "Germline" "" "" "0" "" "" "g.94021339C>T" "" "likely pathogenic" ""
"0000120322" "3" "70" "1" "94486895" "94486895" "subst" "3.24923E-5" "01695" "ABCA4_000484" "g.94486895C>T" "ExAC 1, 121394, 0, 0.000008238" "{PMID:Briggs 2001:11527935}" "" "CGG > CAG" "" "Germline" "" "" "0" "" "" "g.94021339C>T" "" "likely pathogenic" ""
"0000120323" "21" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "ExAC 613, 121302, 4, 0.005054" "{PMID:Briggs 2001:11527935}" "" "GGA > GAA" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000120324" "10" "70" "1" "94480232" "94480232" "subst" "0" "01695" "ABCA4_000444" "g.94480232G>A" "" "{PMID:Briggs 2001:11527935}" "" "CCC > CTC" "" "Germline" "-" "" "0" "" "" "g.94014676G>A" "" "likely pathogenic" ""
"0000120325" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "ExAC 613, 121302, 4, 0.005054" "{PMID:Briggs 2001:11527935}" "" "GGA > GAA" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000120326" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "ExAC 613, 121302, 4, 0.005054" "{PMID:Briggs 2001:11527935}" "" "GGA > GAA" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000120327" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "ExAC 613, 121302, 4, 0.005054" "{PMID:Briggs 2001:11527935}" "" "GGA > GAA" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000120328" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "ExAC 613, 121302, 4, 0.005054" "{PMID:Briggs 2001:11527935}" "" "GGA > GAA" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000120329" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "ExAC 613, 121302, 4, 0.005054" "{PMID:Briggs 2001:11527935}" "" "GGA > GAA" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000120330" "11" "70" "1" "94473266" "94473266" "subst" "8.14677E-6" "01695" "ABCA4_000389" "g.94473266C>T" "ExAC 1, 120422, 0, 0.000008304" "{PMID:Briggs 2001:11527935}" "" "GGC > AGC" "" "Germline" "-" "" "0" "" "" "g.94007710C>T" "" "likely pathogenic" ""
"0000120331" "21" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "ExAC 26, 121404, 0, 0.0002142" "{PMID:Briggs 2001:11527935}" "" "CTC > TTC" "" "Germline" "?" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic" ""
"0000120332" "11" "70" "1" "94473266" "94473266" "subst" "8.14677E-6" "01695" "ABCA4_000389" "g.94473266C>T" "ExAC 1, 120422, 0, 0.000008304" "{PMID:Briggs 2001:11527935}" "" "GGC > AGC" "" "Germline" "-" "" "0" "" "" "g.94007710C>T" "" "likely pathogenic" ""
"0000120333" "21" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "ExAC 26, 121404, 0, 0.0002142" "{PMID:Briggs 2001:11527935}" "" "CTC > TTC" "" "Germline" "?" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic" ""
"0000120334" "0" "50" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "ExAC 26, 121404, 0, 0.0002142" "{PMID:Briggs 2001:11527935}" "" "CTC > TTC" "" "Germline" "" "" "0" "" "" "g.94005509G>A" "" "VUS" ""
"0000120335" "0" "50" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "ExAC 26, 121404, 0, 0.0002142" "{PMID:Briggs 2001:11527935}" "" "CTC > TTC" "" "Germline" "" "" "0" "" "" "g.94005509G>A" "" "VUS" ""
"0000120336" "0" "50" "1" "94471055" "94471055" "subst" "0.00035346" "01695" "ABCA4_000029" "g.94471055C>T" "ExAC 47, 121404, 1, 0.0003871" "{PMID:Briggs 2001:11527935}" "" "CGA > CAA" "" "Germline" "" "" "0" "" "" "g.94005499C>T" "" "VUS" ""
"0000120337" "0" "50" "1" "94471055" "94471055" "subst" "0.00035346" "01695" "ABCA4_000029" "g.94471055C>T" "ExAC 47, 121404, 1, 0.0003871" "{PMID:Briggs 2001:11527935}" "" "CGA > CAA" "" "Germline" "" "" "0" "" "" "g.94005499C>T" "" "VUS" ""
"0000120338" "0" "50" "1" "94471040" "94471040" "subst" "0" "01695" "ABCA4_000123" "g.94471040A>G" "" "{PMID:Briggs 2001:11527935}" "" "CTT > CCT" "" "Germline" "" "" "0" "" "" "g.94005484A>G" "" "VUS" ""
"0000120339" "0" "50" "1" "94467548" "94467548" "subst" "0.00295661" "01695" "ABCA4_000788" "g.94467548C>G" "ExAC 334, 121350, 0, 0.002752" "{PMID:Briggs 2001:11527935}" "" "GTT > CTT" "" "Germline" "" "" "0" "" "" "g.94001992C>G" "" "VUS" ""
"0000120340" "0" "50" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "ExAC 227, 121250, 3, 0.001872" "{PMID:Briggs 2001:11527935}" "" "CGC > CAC" "" "Germline" "" "" "0" "" "" "g.94001068C>T" "" "VUS" ""
"0000120341" "0" "50" "1" "94466434" "94466434" "subst" "0" "01695" "ABCA4_000821" "g.94466434C>T" "" "{PMID:Briggs 2001:11527935}" "" "GGC > GAC" "" "Germline" "" "" "0" "" "" "g.94000878C>T" "" "VUS" ""
"0000120342" "3" "70" "1" "94466422" "94466422" "subst" "2.43651E-5" "01695" "ABCA4_000817" "g.94466422C>T" "ExAC 3, 121398, 0, 0.00002471" "{PMID:Briggs 2001:11527935}" "" "TGT > TGC" "" "Germline" "" "" "0" "" "" "g.94000866C>T" "" "likely pathogenic" ""
"0000120343" "3" "70" "1" "94466422" "94466422" "subst" "2.43651E-5" "01695" "ABCA4_000817" "g.94466422C>T" "ExAC 3, 121398, 0, 0.00002471" "{PMID:Briggs 2001:11527935}" "" "TGT > TGC" "" "Germline" "" "" "0" "" "" "g.94000866C>T" "" "likely pathogenic" ""
"0000120344" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "ExAC 601, 118484, 2, 0.005072" "{PMID:Briggs 2001:11527935}" "" "GGA > GCA" "" "Germline" "?" "rs76157638" "0" "" "" "g.94051698C>G" "" "likely pathogenic" ""
"0000120345" "0" "90" "1" "94466423" "94466423" "subst" "0" "01695" "ABCA4_000818" "g.94466423A>G" "" "{PMID:Briggs 2001:11527935}" "" "TGT > CGT" "" "Germline" "-" "" "0" "" "" "g.94000867A>G" "" "pathogenic" ""
"0000120346" "0" "50" "1" "94586561" "94586569" "del" "0" "01695" "ABCA4_000258" "g.94586561_94586569del" "" "{PMID:Briggs 2001:11527935}" "" "Deletion Lys13-Trp15" "" "Germline" "" "" "0" "" "" "g.94121005_94121013del" "" "VUS" ""
"0000120347" "0" "50" "1" "94586561" "94586569" "del" "0" "01695" "ABCA4_000258" "g.94586561_94586569del" "" "{PMID:Briggs 2001:11527935}" "" "Deletion Lys13-Trp15" "" "Germline" "" "" "0" "" "" "g.94121005_94121013del" "" "VUS" ""
"0000120348" "0" "70" "1" "94480221" "94480221" "subst" "0.000109654" "01695" "ABCA4_000176" "g.94480221G>C" "ExAC 14, 121410, 0, 0.0001153" "{PMID:Shroyer 2000:10746567}" "" "5338C>G" "On its own not significantely found more often in published STGD compared to ExAC (p-value 0.96). However, together with other non-significant variants published related to STGD, they are significantly more often in STGD patients (p-value <0.01)." "Germline" "yes" "" "0" "" "" "g.94014665G>C" "" "likely pathogenic" ""
"0000120349" "0" "70" "1" "94546115" "94546115" "subst" "0" "01695" "ABCA4_000341" "g.94546115A>C" "" "{PMID:Shroyer 2000:10746567}" "" "1018T>G" "" "Germline" "" "" "0" "" "" "g.94080559A>C" "" "likely pathogenic" ""
"0000120350" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Lewis 1999:9973280}" "" "G863A" "" "Germline" "" "rs76157638" "0" "" "" "g.94051698C>G" "" "likely pathogenic" ""
"0000120351" "1" "70" "1" "94546115" "94546115" "subst" "0" "01695" "ABCA4_000341" "g.94546115A>C" "" "{PMID:Lewis 1999:9973280}" "" "Y340D, R772Q" "" "Germline" "yes" "" "0" "" "" "g.94080559A>C" "" "likely pathogenic" ""
"0000120352" "1" "90" "1" "94528713" "94528713" "subst" "4.87381E-5" "01695" "ABCA4_000072" "g.94528713C>T" "" "{PMID:Lewis 1999:9973280}" "" "Y340D, R772Q" "" "Germline" "yes" "" "0" "" "" "g.94063157C>T" "" "pathogenic" ""
"0000120353" "0" "90" "1" "94546115" "94546115" "subst" "0" "01695" "ABCA4_000341" "g.94546115A>C" "" "{PMID:Shroyer 2000:10746567}" "" "1018T>G" "" "Germline" "" "" "0" "" "" "g.94080559A>C" "" "pathogenic" ""
"0000120354" "1" "70" "1" "94528713" "94528713" "subst" "4.87381E-5" "01695" "ABCA4_000072" "g.94528713C>T" "" "{PMID:Shroyer 2000:10746567}" "" "1715G>A, 2588G>C, 2828G>A" "" "Germline" "yes" "" "0" "" "" "g.94063157C>T" "" "likely pathogenic" ""
"0000120355" "1" "70" "1" "94517254" "94517254" "subst" "4.06478E-6" "01695" "ABCA4_000158" "g.94517254C>T" "" "{PMID:Shroyer 2000:10746567}" "" "1715G>A, 2588G>C, 2828G>A" "" "Germline" "yes" "rs76157638" "0" "" "" "g.94051698C>T" "" "likely pathogenic" ""
"0000120356" "1" "70" "1" "94512565" "94512565" "subst" "0.030364" "01695" "ABCA4_000002" "g.94512565C>T" "" "{PMID:Shroyer 2000:10746567}" "" "1715G>A, 2588G>C, 2828G>A" "" "Germline" "yes" "" "0" "" "" "g.94047009C>T" "" "likely pathogenic" ""
"0000120357" "0" "90" "1" "94546115" "94546115" "subst" "0" "01695" "ABCA4_000341" "g.94546115A>C" "" "{PMID:Shroyer 2000:10746567}" "" "1018T>G" "" "Germline" "" "" "0" "" "" "g.94080559A>C" "" "pathogenic" ""
"0000120358" "1" "70" "1" "94528713" "94528713" "subst" "4.87381E-5" "01695" "ABCA4_000072" "g.94528713C>T" "" "{PMID:Shroyer 2000:10746567}" "" "1715G>A, 2588G>C, 2828G>A" "" "Germline" "yes" "" "0" "" "" "g.94063157C>T" "" "likely pathogenic" ""
"0000120359" "1" "70" "1" "94517254" "94517254" "subst" "4.06478E-6" "01695" "ABCA4_000158" "g.94517254C>T" "" "{PMID:Shroyer 2000:10746567}" "" "1715G>A, 2588G>C, 2828G>A" "" "Germline" "yes" "rs76157638" "0" "" "" "g.94051698C>T" "" "likely pathogenic" ""
"0000120360" "1" "70" "1" "94512565" "94512565" "subst" "0.030364" "01695" "ABCA4_000002" "g.94512565C>T" "" "{PMID:Shroyer 2000:10746567}" "" "1715G>A, 2588G>C, 2828G>A" "" "Germline" "yes" "" "0" "" "" "g.94047009C>T" "" "likely pathogenic" ""
"0000120361" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Lewis 1999:9973280}, {PMID:Shroyer 2000:10746567}" "" "2588G>C, 2828G>A" "" "Germline" "" "rs76157638" "0" "" "" "g.94051698C>G" "" "pathogenic" ""
"0000120362" "0" "90" "1" "94485137" "94485137" "subst" "0" "01695" "ABCA4_000464" "g.94485137C>T" "" "{PMID:Lewis 1999:9973280}, {PMID:Shroyer 2000:10746567}" "" "5196+1G>A, 2828G>A" "" "Germline" "yes" "" "0" "" "" "g.94019581C>T" "" "pathogenic" ""
"0000120363" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Lewis 1999:9973280}, {PMID:Shroyer 2000:10746567}" "" "2588G>C, 2828G>A" "" "Germline" "" "rs76157638" "0" "" "" "g.94051698C>G" "" "pathogenic" ""
"0000120364" "0" "90" "1" "94485137" "94485137" "subst" "0" "01695" "ABCA4_000464" "g.94485137C>T" "" "{PMID:Lewis 1999:9973280}, {PMID:Shroyer 2000:10746567}" "" "5196+1G>A, 2828G>A" "" "Germline" "yes" "" "0" "" "" "g.94019581C>T" "" "pathogenic" ""
"0000120365" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "ExAC 173, 121304, 0, 0.001426" "{PMID:Lewis 1999:9973280}, {PMID:Shroyer 2000:10746567}" "" "A1038V" "" "Germline" "yes" "" "0" "" "" "g.94043413G>A" "" "pathogenic" ""
"0000120366" "0" "30" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Lewis 1999:9973280}, {PMID:Shroyer 2000:10746567}" "" "2588G>C, 2828G>A" "" "Germline" "" "rs76157638" "0" "" "" "g.94051698C>G" "" "likely benign" ""
"0000120367" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "ExAC 173, 121304, 0, 0.001426" "{PMID:Lewis 1999:9973280}, {PMID:Shroyer 2000:10746567}" "" "A1038V" "" "Germline" "yes" "" "0" "" "" "g.94043413G>A" "" "pathogenic" ""
"0000120368" "0" "30" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Lewis 1999:9973280}, {PMID:Shroyer 2000:10746567}" "" "2588G>C, 2828G>A" "" "Germline" "" "rs76157638" "0" "" "" "g.94051698C>G" "" "likely benign" ""
"0000120369" "0" "90" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "ExAC 42, 120772, 0, 0.0003478" "{PMID:Lewis 1999:9973280}, {PMID:Shroyer 2000:10746567}" "" "5714+5G>A" "" "Germline" "yes" "" "0" "" "" "g.94010795C>T" "" "pathogenic" ""
"0000120370" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Lewis 1999:9973280}, {PMID:Shroyer 2000:10746567}" "" "2588G>C, 2828G>A" "" "Germline" "" "rs76157638" "0" "" "" "g.94051698C>G" "" "pathogenic" ""
"0000120371" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Lewis 1999:9973280}, {PMID:Shroyer 2000:10746567}" "" "2588G>C, 2828G>A" "" "Germline" "" "rs76157638" "0" "" "" "g.94051698C>G" "" "pathogenic" ""
"0000120372" "0" "90" "1" "94473790" "94473790" "subst" "0" "01695" "ABCA4_000400" "g.94473790C>A" "" "{PMID:Lewis 1999:9973280}, {PMID:Shroyer 2000:10746567}" "" "5898+1G>T" "" "Germline" "yes" "" "0" "" "" "g.94008234C>A" "" "pathogenic" ""
"0000120373" "0" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "ExAC 173, 121304, 0, 0.001426" "{PMID:Lewis 1999:9973280}" "" "A1038V" "" "Germline" "" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic" ""
"0000120374" "0" "30" "1" "94528713" "94528713" "subst" "0" "01695" "ABCA4_000295" "g.94528713C>G" "" "{PMID:Lewis 1999:9973280}" "" "R572P" "" "Germline" "?" "" "0" "" "" "g.94063157C>G" "" "likely benign" ""
"0000120375" "0" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "ExAC 173, 121304, 0, 0.001426" "{PMID:Lewis 1999:9973280}" "" "A1038V" "" "Germline" "" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic" ""
"0000120376" "0" "30" "1" "94508433" "94508433" "subst" "8.12209E-6" "01695" "ABCA4_000151" "g.94508433G>A" "ExAC 2, 121366, 0, 0.00001648" "{PMID:Lewis 1999:9973280}" "" "S1071L" "" "Germline" "?" "" "0" "" "" "g.94042877G>A" "" "likely benign" ""
"0000120377" "0" "30" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "ExAC 173, 121304, 0, 0.001426" "{PMID:Lewis 1999:9973280}" "" "A1038V" "" "Germline" "" "" "0" "" "" "g.94043413G>A" "" "likely benign" ""
"0000120378" "0" "30" "1" "94473287" "94473287" "subst" "0.00293818" "01695" "ABCA4_000395" "g.94473287G>A" "ExAC 352, 120336, 1, 0.002925" "{PMID:Lewis 1999:9973280}" "" "L1970F" "" "Germline" "?" "" "0" "" "" "g.94007731G>A" "" "likely benign" ""
"0000120379" "0" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "ExAC 173, 121304, 0, 0.001426" "{PMID:Lewis 1999:9973280}" "" "A1038V" "" "Germline" "" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic" ""
"0000120380" "0" "30" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "ExAC 613, 121302, 4, 0.005054" "{PMID:Lewis 1999:9973280}" "" "G1961E" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "likely benign" ""
"0000120381" "0" "30" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "ExAC 173, 121304, 0, 0.001426" "{PMID:Lewis 1999:9973280}" "" "A1038V" "" "Germline" "" "" "0" "" "" "g.94043413G>A" "" "likely benign" ""
"0000120382" "0" "30" "1" "94476377" "94476377" "subst" "0.00160473" "01695" "ABCA4_000411" "g.94476377C>T" "ExAC 216, 121058, 1, 0.001784" "{PMID:Lewis 1999:9973280}" "" "R1898H" "On its own not significantely found more often in published STGD compared to ExAC (p-value 0.39). However, together with other non-significant variants published related to STGD, they are significantly more often in STGD patients (p-value <0.01)." "Germline" "?" "" "0" "" "" "g.94010821C>T" "" "likely benign" ""
"0000120383" "0" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "ExAC 173, 121304, 0, 0.001426" "{PMID:Lewis 1999:9973280}" "" "A1038V" "" "Germline" "" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic" ""
"0000120384" "0" "30" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "ExAC 613, 121302, 4, 0.005054" "{PMID:Lewis 1999:9973280}" "" "G1961E" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "likely benign" ""
"0000120385" "0" "30" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "ExAC 14, 121282, 0, 0.0001154" "{PMID:Lewis 1999:9973280}" "" "R1108C" "" "Germline" "?" "" "0" "" "" "g.94042767G>A" "" "likely benign" ""
"0000120386" "0" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "ExAC 173, 121304, 0, 0.001426" "{PMID:Lewis 1999:9973280}" "" "A1038V" "" "Germline" "" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic" ""
"0000120387" "0" "30" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "ExAC 14, 121282, 0, 0.0001154" "{PMID:Lewis 1999:9973280}" "" "R1108C" "" "Germline" "?" "" "0" "" "" "g.94042767G>A" "" "likely benign" ""
"0000120388" "0" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "ExAC 173, 121304, 0, 0.001426" "{PMID:Lewis 1999:9973280}" "" "A1038V" "" "Germline" "" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic" ""
"0000120389" "0" "70" "1" "94496583" "94496583" "subst" "2.03092E-5" "01695" "ABCA4_000190" "g.94496583A>G" "ExAC 1, 120898, 0, 0.000008271" "{PMID:Lewis 1999:9973280}" "" "W1408R" "" "Germline" "?" "" "0" "" "" "g.94031027A>G" "" "likely pathogenic" ""
"0000120390" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "ExAC 24, 119274, 0, 0.0002012" "{PMID:Lewis 1999:9973280}" "" "P1380L" "" "Germline" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic" ""
"0000120391" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "ExAC 24, 119274, 0, 0.0002012" "{PMID:Lewis 1999:9973280}" "" "P1380L" "" "Germline" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic" ""
"0000120392" "0" "70" "1" "94506923" "94506923" "subst" "2.43657E-5" "01695" "ABCA4_000012" "g.94506923C>T" "ExAC 3, 121394, 0, 0.00002471" "{PMID:Lewis 1999:9973280}" "" "E1122K" "" "Germline" "?" "" "0" "" "" "g.94041367C>T" "" "likely pathogenic" ""
"0000120393" "0" "90" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "ExAC 24, 119274, 0, 0.0002012" "{PMID:Lewis 1999:9973280}" "" "P1380L" "" "Germline" "" "" "0" "" "" "g.94031110G>A" "" "pathogenic" ""
"0000120394" "0" "70" "1" "94526247" "94526248" "del" "0" "01695" "ABCA4_000761" "g.94526247_94526248del" "" "{PMID:Lewis 1999:9973280}" "" "2005delAT" "" "Germline" "?" "" "0" "" "" "g.94060691_94060692del" "" "likely pathogenic" ""
"0000120395" "0" "70" "1" "94490550" "94490550" "subst" "0.000105588" "01695" "ABCA4_000523" "g.94490550C>T" "ExAC 11, 121406, 0, 0.00009061" "{PMID:Lewis 1999:9973280}" "" "D1532N" "" "Germline" "?" "" "0" "" "" "g.94024994C>T" "" "likely pathogenic" ""
"0000120396" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "ExAC 24, 119274, 0, 0.0002012" "{PMID:Lewis 1999:9973280}" "" "P1380L" "" "Germline" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic" ""
"0000120397" "0" "70" "1" "94520793" "94520793" "subst" "8.13292E-6" "01695" "ABCA4_000723" "g.94520793A>T" "ExAC 1, 121346, 0, 0.000008241" "{PMID:Lewis 1999:9973280}" "" "W821R" "" "Germline" "?" "" "0" "" "" "g.94055237A>T" "" "likely pathogenic" ""
"0000120398" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "ExAC 24, 119274, 0, 0.0002012" "{PMID:Lewis 1999:9973280}" "" "P1380L" "" "Germline" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic" ""
"0000120399" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "ExAC 613, 121302, 4, 0.005054" "{PMID:Lewis 1999:9973280}" "" "G1961E" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000120400" "0" "70" "1" "94577073" "94577073" "subst" "0" "01695" "ABCA4_000231" "g.94577073A>C" "" "{PMID:Lewis 1999:9973280}" "" "C75G" "" "Germline" "" "" "0" "" "" "g.94111517A>C" "" "likely pathogenic" ""
"0000120401" "0" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "ExAC 12, 60116, 0, 0.0001996" "{PMID:Lewis 1999:9973280}" "" "C1490Y" "" "Germline" "?" "" "0" "" "" "g.94029515C>T" "" "likely pathogenic" ""
"0000120402" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "ExAC 613, 121302, 4, 0.005054" "{PMID:Lewis 1999:9973280}" "" "G1961E" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000120403" "0" "70" "1" "94496547" "94496547" "subst" "4.06345E-6" "01695" "ABCA4_000559" "g.94496547C>A" "ExAC 1, 120798, 0, 0.000008278" "{PMID:Lewis 1999:9973280}" "" "4253+5G>T" "" "Germline" "?" "" "0" "" "" "g.94030991C>A" "" "likely pathogenic" ""
"0000120404" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "ExAC 613, 121302, 4, 0.005054" "{PMID:Lewis 1999:9973280}" "" "G1961E" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000120405" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "ExAC 26, 121404, 0, 0.0002142" "{PMID:Lewis 1999:9973280}" "" "L2027F" "" "Germline" "" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic" ""
"0000120406" "0" "70" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "ExAC 6, 119038, 0, 0.0000504" "{PMID:Lewis 1999:9973280}" "" "R602W" "" "Germline" "?" "" "0" "" "" "g.94062710G>A" "" "likely pathogenic" ""
"0000120407" "0" "70" "1" "94466426" "94466426" "subst" "1.62433E-5" "01695" "ABCA4_000124" "g.94466426G>A" "ExAC 2, 121400, 0, 0.00001647" "{PMID:Lewis 1999:9973280}" "" "R2149X" "" "Germline" "?" "" "0" "" "" "g.94000870G>A" "" "likely pathogenic" ""
"0000120408" "0" "90" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "ExAC 26, 121404, 0, 0.0002142" "{PMID:Lewis 1999:9973280}" "" "L2027F" "" "Germline" "" "" "0" "" "" "g.94005509G>A" "" "pathogenic" ""
"0000120409" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "ExAC 26, 121404, 0, 0.0002142" "{PMID:Lewis 1999:9973280}" "" "L2027F" "" "Germline" "" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic" ""
"0000120410" "0" "70" "1" "94490567" "94490567" "subst" "5.68528E-5" "01695" "ABCA4_000026" "g.94490567G>A" "ExAC 4, 121406, 0, 0.00003295" "{PMID:Lewis 1999:9973280}" "" "T1526M" "" "Germline" "?" "" "0" "" "" "g.94025011G>A" "" "likely pathogenic" ""
"0000120411" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "ExAC 26, 121404, 0, 0.0002142" "{PMID:Lewis 1999:9973280}" "" "L2027F" "" "Germline" "" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic" ""
"0000120412" "0" "70" "1" "94490567" "94490567" "subst" "5.68528E-5" "01695" "ABCA4_000026" "g.94490567G>A" "ExAC 4, 121406, 0, 0.00003295" "{PMID:Lewis 1999:9973280}" "" "T1526M" "" "Germline" "?" "" "0" "" "" "g.94025011G>A" "" "likely pathogenic" ""
"0000120413" "0" "70" "1" "94490550" "94490550" "subst" "0.000105588" "01695" "ABCA4_000523" "g.94490550C>T" "ExAC 11, 121406, 0, 0.00009061" "{PMID:Lewis 1999:9973280}, {PMID:Shroyer 2001:11726554}" "" "D1532N" "" "Germline" "?" "" "0" "" "" "g.94024994C>T" "" "likely pathogenic" ""
"0000120414" "0" "70" "1" "94578618" "94578618" "subst" "0.000166918" "01695" "ABCA4_000252" "g.94578618C>T" "ExAC 23, 120444, 0, 0.000191" "{PMID:Lewis 1999:9973280}, {PMID:Shroyer 2001:11726554}" "" "R24H" "" "Germline" "" "" "0" "" "" "g.94113062C>T" "" "likely pathogenic" ""
"0000120415" "0" "70" "1" "94490550" "94490550" "subst" "0.000105588" "01695" "ABCA4_000523" "g.94490550C>T" "ExAC 11, 121406, 0, 0.00009061" "{PMID:Lewis 1999:9973280}, {PMID:Shroyer 2001:11726554}" "" "D1532N" "" "Germline" "?" "" "0" "" "" "g.94024994C>T" "" "likely pathogenic" ""
"0000120416" "0" "70" "1" "94578618" "94578618" "subst" "0.000166918" "01695" "ABCA4_000252" "g.94578618C>T" "ExAC 23, 120444, 0, 0.000191" "{PMID:Lewis 1999:9973280}, {PMID:Shroyer 2001:11726554}" "" "R24H" "" "Germline" "" "" "0" "" "" "g.94113062C>T" "" "likely pathogenic" ""
"0000120417" "0" "70" "1" "94496583" "94496583" "subst" "2.03092E-5" "01695" "ABCA4_000190" "g.94496583A>G" "ExAC 1, 120898, 0, 0.000008271" "{PMID:Lewis 1999:9973280}, {PMID:Shroyer 2001:11726554}" "" "W1408" "" "Germline" "?" "" "0" "" "" "g.94031027A>G" "" "likely pathogenic" ""
"0000120418" "0" "70" "1" "94578618" "94578618" "subst" "0.000166918" "01695" "ABCA4_000252" "g.94578618C>T" "ExAC 23, 120444, 0, 0.000191" "{PMID:Lewis 1999:9973280}, {PMID:Shroyer 2001:11726554}" "" "R24H" "" "Germline" "" "" "0" "" "" "g.94113062C>T" "" "likely pathogenic" ""
"0000120419" "0" "70" "1" "94496583" "94496583" "subst" "2.03092E-5" "01695" "ABCA4_000190" "g.94496583A>G" "ExAC 1, 120898, 0, 0.000008271" "{PMID:Lewis 1999:9973280}, {PMID:Shroyer 2001:11726554}" "" "W1408" "" "Germline" "?" "" "0" "" "" "g.94031027A>G" "" "likely pathogenic" ""
"0000120420" "0" "70" "1" "94490550" "94490550" "subst" "0.000105588" "01695" "ABCA4_000523" "g.94490550C>T" "ExAC 11, 121406, 0, 0.00009061" "{PMID:Lewis 1999:9973280}, {PMID:Shroyer 2001:11726554}" "" "D1532N" "" "Germline" "" "" "0" "" "" "g.94024994C>T" "" "likely pathogenic" ""
"0000120421" "0" "70" "1" "94496583" "94496583" "subst" "2.03092E-5" "01695" "ABCA4_000190" "g.94496583A>G" "ExAC 1, 120898, 0, 0.000008271" "{PMID:Lewis 1999:9973280}, {PMID:Shroyer 2001:11726554}" "" "W1408" "" "Germline" "" "" "0" "" "" "g.94031027A>G" "" "likely pathogenic" ""
"0000120422" "0" "70" "1" "94578618" "94578618" "subst" "0.000166918" "01695" "ABCA4_000252" "g.94578618C>T" "ExAC 23, 120444, 0, 0.000191" "{PMID:Lewis 1999:9973280}, {PMID:Shroyer 2001:11726554}" "" "R24H" "" "Germline" "?" "" "0" "" "" "g.94113062C>T" "" "likely pathogenic" ""
"0000120423" "0" "70" "1" "94496583" "94496583" "subst" "2.03092E-5" "01695" "ABCA4_000190" "g.94496583A>G" "ExAC 1, 120898, 0, 0.000008271" "{PMID:Lewis 1999:9973280}, {PMID:Shroyer 2001:11726554}" "" "W1408" "" "Germline" "?" "" "0" "" "" "g.94031027A>G" "" "likely pathogenic" ""
"0000120424" "0" "70" "1" "94490550" "94490550" "subst" "0.000105588" "01695" "ABCA4_000523" "g.94490550C>T" "ExAC 11, 121406, 0, 0.00009061" "{PMID:Lewis 1999:9973280}, {PMID:Shroyer 2001:11726554}" "" "D1532N" "" "Germline" "" "" "0" "" "" "g.94024994C>T" "" "likely pathogenic" ""
"0000120425" "1" "50" "1" "94476377" "94476377" "subst" "0.00160473" "01695" "ABCA4_000411" "g.94476377C>T" "" "{PMID:Lewis 1999:9973280}" "" "D249G, R1898H" "" "Germline" "" "" "0" "" "" "g.94010821C>T" "" "VUS" ""
"0000120426" "1" "50" "1" "94564372" "94564372" "subst" "0" "01695" "ABCA4_000366" "g.94564372T>C" "" "{PMID:Lewis 1999:9973280}" "" "D249G, R1898H" "" "Germline" "" "" "0" "" "" "g.94098816T>C" "" "VUS" ""
"0000120427" "1" "50" "1" "94496589" "94496589" "subst" "0" "01695" "ABCA4_000568" "g.94496589G>A" "" "{PMID:Lewis 1999:9973280}" "" "H1406Y, V2050L" "" "Germline" "" "" "0" "" "" "g.94031033G>A" "" "VUS" ""
"0000120428" "1" "50" "1" "94467548" "94467548" "subst" "0.00295661" "01695" "ABCA4_000788" "g.94467548C>G" "" "{PMID:Lewis 1999:9973280}" "" "H1406Y, V2050L" "" "Germline" "" "" "0" "" "" "g.94001992C>G" "" "VUS" ""
"0000120429" "1" "50" "1" "94502904" "94502904" "subst" "2.03899E-5" "01695" "ABCA4_000604" "g.94502904C>T" "" "{PMID:Lewis 1999:9973280}" "" "D1204N, L2027F" "" "Germline" "" "" "0" "" "" "g.94037348C>T" "" "VUS" ""
"0000120430" "1" "50" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Lewis 1999:9973280}" "" "D1204N, L2027F" "" "Germline" "" "" "0" "" "" "g.94005509G>A" "" "VUS" ""
"0000120431" "1" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Lewis 1999:9973280}, {PMID:Shroyer 2000:10746567}" "" "G863A, R1898H, 2828G>A" "" "Germline" "" "rs76157638" "0" "" "" "g.94051698C>G" "" "likely pathogenic" ""
"0000120432" "1" "50" "1" "94476377" "94476377" "subst" "0.00160473" "01695" "ABCA4_000411" "g.94476377C>T" "" "{PMID:Lewis 1999:9973280}, {PMID:Shroyer 2000:10746567}" "" "G863A, R1898H, 2828G>A" "" "Germline" "" "" "0" "" "" "g.94010821C>T" "" "VUS" ""
"0000120433" "1" "50" "1" "94512510" "94512510" "del" "0" "01695" "ABCA4_000119" "g.94512510del" "" "{PMID:Lewis 1999:9973280}" "" "2714+5G>A,2884delC" "" "Germline" "" "" "0" "" "" "g.94046954del" "" "VUS" ""
"0000120434" "1" "50" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Lewis 1999:9973280}" "" "2714+5G>A,2884delC" "" "Germline" "" "" "0" "" "" "g.94010795C>T" "" "VUS" ""
"0000120435" "1" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Lewis 1999:9973280}, {PMID:Shroyer 2000:10746567}" "" "G863A, R1898H, 2828G>A" "" "Germline" "" "rs76157638" "0" "" "" "g.94051698C>G" "" "likely pathogenic" ""
"0000120436" "1" "50" "1" "94476377" "94476377" "subst" "0.00160473" "01695" "ABCA4_000411" "g.94476377C>T" "" "{PMID:Lewis 1999:9973280}, {PMID:Shroyer 2000:10746567}" "" "G863A, R1898H, 2828G>A" "" "Germline" "" "" "0" "" "" "g.94010821C>T" "" "VUS" ""
"0000120437" "1" "50" "1" "94543389" "94543389" "subst" "0.000861235" "01695" "ABCA4_000312" "g.94543389C>T" "" "{PMID:Lewis 1999:9973280}" "" "E471K, E2131K" "On the other chromosome a mutation was found as well, but not specified." "Germline" "" "" "0" "" "" "g.94077833C>T" "" "VUS" ""
"0000120438" "1" "50" "1" "94466480" "94466480" "subst" "4.06088E-6" "01695" "ABCA4_000827" "g.94466480C>T" "" "{PMID:Lewis 1999:9973280}" "" "E471K, E2131K" "On the other chromosome a mutation was found as well, but not specified." "Germline" "" "" "0" "" "" "g.94000924C>T" "" "VUS" ""
"0000120439" "0" "90" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "ExAC 21, 121302, 0, 0.0001731" "{PMID:Lewis 1999:9973280}" "" "2894A>G" "" "Germline" "?" "" "0" "" "" "g.94046943T>C" "" "pathogenic" ""
"0000120440" "1" "70" "1" "94528713" "94528713" "subst" "4.87381E-5" "01695" "ABCA4_000072" "g.94528713C>T" "" "{PMID:Lewis 1999:9973280}" "" "R572Q, G863A" "" "Germline" "" "" "0" "" "" "g.94063157C>T" "" "likely pathogenic" ""
"0000120441" "1" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Lewis 1999:9973280}" "" "R572Q, G863A" "" "Germline" "" "rs76157638" "0" "" "" "g.94051698C>G" "" "likely pathogenic" ""
"0000120442" "0" "90" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "ExAC 21, 121302, 0, 0.0001731" "{PMID:Shroyer 2000:10746567}" "" "2894A>G" "" "Germline" "?" "" "0" "" "" "g.94046943T>C" "" "pathogenic" ""
"0000120443" "1" "70" "1" "94528713" "94528713" "subst" "4.87381E-5" "01695" "ABCA4_000072" "g.94528713C>T" "" "{PMID:Shroyer 2000:10746567}" "" "1715G>A, 2588G>C, 2828G>A" "" "Germline" "" "" "0" "" "" "g.94063157C>T" "" "likely pathogenic" ""
"0000120444" "1" "70" "1" "94517254" "94517254" "subst" "4.06478E-6" "01695" "ABCA4_000158" "g.94517254C>T" "" "{PMID:Shroyer 2000:10746567}" "" "1715G>A, 2588G>C, 2828G>A" "" "Germline" "" "rs76157638" "0" "" "" "g.94051698C>T" "" "likely pathogenic" ""
"0000120445" "1" "70" "1" "94512565" "94512565" "subst" "0.030364" "01695" "ABCA4_000002" "g.94512565C>T" "" "{PMID:Shroyer 2000:10746567}" "" "1715G>A, 2588G>C, 2828G>A" "" "Germline" "" "" "0" "" "" "g.94047009C>T" "" "likely pathogenic" ""
"0000120446" "0" "90" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "ExAC 21, 121302, 0, 0.0001731" "{PMID:Shroyer 2000:10746567}" "" "2894A>G" "" "Germline" "?" "" "0" "" "" "g.94046943T>C" "" "pathogenic" ""
"0000120447" "1" "70" "1" "94528713" "94528713" "subst" "4.87381E-5" "01695" "ABCA4_000072" "g.94528713C>T" "" "{PMID:Shroyer 2000:10746567}" "" "1715G>A, 2588G>C, 2828G>A" "" "Germline" "" "" "0" "" "" "g.94063157C>T" "" "likely pathogenic" ""
"0000120448" "1" "70" "1" "94517254" "94517254" "subst" "4.06478E-6" "01695" "ABCA4_000158" "g.94517254C>T" "" "{PMID:Shroyer 2000:10746567}" "" "1715G>A, 2588G>C, 2828G>A" "" "Germline" "" "rs76157638" "0" "" "" "g.94051698C>T" "" "likely pathogenic" ""
"0000120449" "1" "70" "1" "94512565" "94512565" "subst" "0.030364" "01695" "ABCA4_000002" "g.94512565C>T" "" "{PMID:Shroyer 2000:10746567}" "" "1715G>A, 2588G>C, 2828G>A" "" "Germline" "" "" "0" "" "" "g.94047009C>T" "" "likely pathogenic" ""
"0000120450" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Lewis 1999:9973280}" "" "L541P, A1038V" "On the other chromosome a mutation was found as well, but not specified." "Germline" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000120451" "1" "50" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Lewis 1999:9973280}" "" "L541P, A1038V" "On the other chromosome a mutation was found as well, but not specified." "Germline" "" "" "0" "" "" "g.94043413G>A" "" "VUS" ""
"0000120452" "0" "70" "1" "94528248" "94528248" "subst" "1.22148E-5" "01695" "ABCA4_000279" "g.94528248A>T" "ExAC 1, 119894, 0, 0.000008341" "{PMID:Lewis 1999:9973280}" "" "F608I" "" "Germline" "" "" "0" "" "" "g.94062692A>T" "" "likely pathogenic" ""
"0000120453" "0" "70" "1" "94528137" "94528137" "subst" "2.03363E-5" "01695" "ABCA4_000774" "g.94528137C>T" "ExAC 1, 121050, 0, 0.000008261" "{PMID:Lewis 1999:9973280}" "" "D645N" "" "Germline" "?" "" "0" "" "" "g.94062581C>T" "" "likely pathogenic" ""
"0000120454" "3" "70" "1" "94496020" "94496020" "subst" "8.12143E-6" "01695" "ABCA4_000014" "g.94496020C>T" "ExAC 1, 121374, 0, 0.000008239" "{PMID:Lewis 1999:9973280}" "" "G1439D" "" "Germline" "?" "" "0" "" "" "g.94030464C>T" "" "likely pathogenic" ""
"0000120455" "0" "70" "1" "94490567" "94490567" "subst" "5.68528E-5" "01695" "ABCA4_000026" "g.94490567G>A" "ExAC 4, 121406, 0, 0.00003295" "{PMID:Lewis 1999:9973280}" "" "c.4577C>T" "" "Germline" "" "" "0" "" "" "g.94025011G>A" "" "likely pathogenic" ""
"0000120456" "0" "70" "1" "94564460" "94564460" "subst" "8.1355E-6" "01695" "ABCA4_000056" "g.94564460G>A" "" "{PMID:Wang 2014:24154662}" "" "c.658C>T" "" "Germline" "?" "" "0" "" "" "g.94098904G>A" "" "likely pathogenic" ""
"0000120457" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "ExAC 173, 121304, 0, 0.001426" "{PMID:Wang 2014:24154662}" "" "c.2588G>C" "" "Germline" "" "rs76157638" "0" "" "" "g.94051698C>G" "" "likely pathogenic" ""
"0000120458" "0" "30" "1" "94495008" "94495008" "subst" "0" "01695" "ABCA4_000055" "g.94495008G>C" "" "{PMID:Wang 2014:24154662}" "" "c.4532C>G" "" "Germline" "?" "" "0" "" "" "g.94029452G>C" "" "likely benign" ""
"0000120459" "3" "70" "1" "94466477" "94466477" "subst" "0" "01695" "ABCA4_000826" "g.94466477C>T" "" "{PMID:Boulanger-Scemama 2015:26103963}, {PMID:Boulanger-Scemama 2019:31574917}" "" "c.6394G>A p.(E2132K)" "" "Germline" "?" "" "0" "" "" "g.94000921C>T" "" "likely pathogenic" ""
"0000120460" "3" "90" "1" "94466426" "94466426" "subst" "1.62433E-5" "01695" "ABCA4_000124" "g.94466426G>A" "ExAC 2, 121400, 0, 0.00001647" "{PMID:Boulanger-Scemama 2015:26103963}, {PMID:Boulanger-Scemama 2019:31574917}" "" "c.6445C>T p.(R2149*)" "" "Germline" "yes" "" "0" "" "" "g.94000870G>A" "" "pathogenic" ""
"0000120461" "3" "90" "1" "94466426" "94466426" "subst" "1.62433E-5" "01695" "ABCA4_000124" "g.94466426G>A" "ExAC 2, 121400, 0, 0.00001647" "{PMID:Boulanger-Scemama 2015:26103963}, {PMID:Boulanger-Scemama 2019:31574917}" "" "c.6445C>T p.(R2149*)" "" "Germline" "yes" "" "0" "" "" "g.94000870G>A" "" "pathogenic" ""
"0000120462" "3" "90" "1" "94473797" "94473797" "del" "0" "01695" "ABCA4_000401" "g.94473797del" "" "{PMID:Boulanger-Scemama 2015:26103963}, {PMID:Boulanger-Scemama 2019:31574917}" "" "c.5892del" "" "Germline" "?" "" "0" "" "" "g.94008241del" "" "pathogenic" ""
"0000120463" "10" "70" "1" "94487251" "94487251" "subst" "2.85679E-5" "01695" "ABCA4_000490" "g.94487251G>T" "ExAC 3, 113672, 0, 0.00002639" "{PMID:Boulanger-Scemama 2015:26103963}, {PMID:Boulanger-Scemama 2019:31574917}" "" "c.4793C>A" "" "Germline" "" "" "0" "" "" "g.94021695G>T" "" "likely pathogenic" ""
"0000120464" "21" "50" "1" "94496571" "94496571" "subst" "4.06174E-6" "01695" "ABCA4_000111" "g.94496571G>A" "" "{PMID:Boulanger-Scemama 2015:26103963}, {PMID:Boulanger-Scemama 2019:31574917}" "" "c.4234C>T" "" "Germline" "?" "" "0" "" "" "g.94031015G>A" "" "VUS" ""
"0000120465" "3" "70" "1" "94528146" "94528146" "subst" "0" "01695" "ABCA4_000776" "g.94528146A>G" "" "{PMID:Boulanger-Scemama 2015:26103963}, {PMID:Boulanger-Scemama 2019:31574917}" "" "c.1924T>C" "" "Germline" "?" "" "0" "" "" "g.94062590A>G" "" "likely pathogenic" ""
"0000120466" "3" "90" "1" "94543245" "94543245" "subst" "0" "01695" "ABCA4_000305" "g.94543245C>G" "" "{PMID:Boulanger-Scemama 2015:26103963}, {PMID:Boulanger-Scemama 2019:31574917}" "" "c.1554+1G>C" "" "Germline" "?" "" "0" "" "" "g.94077689C>G" "" "pathogenic" ""
"0000120467" "3" "70" "1" "94508386" "94508386" "subst" "1.62443E-5" "01695" "ABCA4_000642" "g.94508386C>T" "ExAC 4, 121376, 0, 0.00003296" "{PMID:Boulanger-Scemama 2015:26103963}, {PMID:Boulanger-Scemama 2019:31574917}" "" "c.3259G>A" "" "Germline" "?" "" "0" "" "" "g.94042830C>T" "" "likely pathogenic" ""
"0000120468" "3" "70" "1" "94486895" "94486895" "subst" "3.24923E-5" "01695" "ABCA4_000484" "g.94486895C>T" "ExAC 7, 121398, 0, 0.00005766" "{PMID:Boulanger-Scemama 2015:26103963}, {PMID:Boulanger-Scemama 2019:31574917}" "" "c.4919G>A" "" "Germline" "yes" "" "0" "" "" "g.94021339C>T" "" "likely pathogenic" ""
"0000120469" "3" "70" "1" "94486895" "94486895" "subst" "3.24923E-5" "01695" "ABCA4_000484" "g.94486895C>T" "ExAC 7, 121398, 0, 0.00005766" "{PMID:Boulanger-Scemama 2015:26103963}, {PMID:Boulanger-Scemama 2019:31574917}" "" "c.4919G>A" "" "Germline" "yes" "" "0" "" "" "g.94021339C>T" "" "likely pathogenic" ""
"0000120470" "3" "70" "1" "94486895" "94486895" "subst" "3.24923E-5" "01695" "ABCA4_000484" "g.94486895C>T" "ExAC 7, 121398, 0, 0.00005766" "{PMID:Boulanger-Scemama 2015:26103963}, {PMID:Boulanger-Scemama 2019:31574917}" "" "c.4919G>A" "" "Germline" "yes" "" "0" "" "" "g.94021339C>T" "" "likely pathogenic" ""
"0000120471" "20" "50" "1" "94487207" "94487207" "subst" "4.10186E-6" "01695" "ABCA4_000489" "g.94487207C>T" "" "{PMID:Boulanger-Scemama 2015:26103963}, {PMID:Boulanger-Scemama 2019:31574917}" "" "c.4837G>A, c.5318C>T" "" "Germline" "" "" "0" "" "" "g.94021651C>T" "" "VUS" ""
"0000120472" "20" "90" "1" "94480241" "94480241" "subst" "7.71705E-5" "01695" "ABCA4_000446" "g.94480241G>A" "" "{PMID:Boulanger-Scemama 2015:26103963}, {PMID:Boulanger-Scemama 2019:31574917}" "" "c.4837G>A, c.5318C>T" "" "Germline" "" "" "0" "" "" "g.94014685G>A" "" "pathogenic" ""
"0000120473" "11" "70" "1" "94544200" "94544200" "del" "4.06072E-6" "01695" "ABCA4_000319" "g.94544200del" "" "{PMID:Boulanger-Scemama 2015:26103963}, {PMID:Boulanger-Scemama 2019:31574917}" "" "c.1302del" "" "Germline" "?" "" "0" "" "" "g.94078644del" "" "likely pathogenic" ""
"0000120474" "11" "70" "1" "94526219" "94526219" "subst" "4.06673E-6" "01695" "ABCA4_000759" "g.94526219C>A" "" "{PMID:Boulanger-Scemama 2015:26103963}, {PMID:Boulanger-Scemama 2019:31574917}" "" "c.2034G>T p.(K678N) +c.6089G>A p.(R2030Q)" "" "Germline" "" "" "0" "" "" "g.94060663C>A" "" "likely pathogenic" ""
"0000120475" "11" "70" "1" "94471055" "94471055" "subst" "0.00035346" "01695" "ABCA4_000029" "g.94471055C>T" "" "{PMID:Boulanger-Scemama 2015:26103963}, {PMID:Boulanger-Scemama 2019:31574917}" "" "c.2034G>T p.(K678N) +c.6089G>A p.(R2030Q)" "" "Germline" "" "" "0" "" "" "g.94005499C>T" "" "likely pathogenic" ""
"0000120476" "20" "70" "1" "94505596" "94505596" "subst" "0" "01695" "ABCA4_000606" "g.94505596T>A" "" "{PMID:Boulanger-Scemama 2015:26103963}, {PMID:Boulanger-Scemama 2019:31574917}" "" "c.3607+3A>T r.(spl?)" "" "Germline" "?" "" "0" "" "" "g.94040040T>A" "" "likely pathogenic" ""
"0000120477" "3" "90" "1" "94473797" "94473797" "del" "0" "01695" "ABCA4_000401" "g.94473797del" "" "{PMID:Boulanger-Scemama 2015:26103963}, {PMID:Boulanger-Scemama 2019:31574917}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94008241del" "" "pathogenic" ""
"0000120478" "3" "70" "1" "94509026" "94509026" "subst" "4.06497E-5" "01695" "ABCA4_000660" "g.94509026G>A" "ExAC 5, 120988, 0, 0.00004133" "{PMID:Boulanger-Scemama 2015:26103963}, {PMID:Boulanger-Scemama 2019:31574917}" "" "c.3056C>T" "" "Germline" "yes" "" "0" "" "" "g.94043470G>A" "" "likely pathogenic" ""
"0000120479" "0" "90" "1" "94520791" "94520791" "subst" "0" "01695" "ABCA4_000191" "g.94520791C>T" "ExAC 5, 120988, 0, 0.00004133" "{PMID:Boulanger-Scemama 2015:26103963}, {PMID:Boulanger-Scemama 2019:31574917}" "" "c.2463G>A p.(W821*)" "variant description corrected!" "Germline" "" "" "0" "" "" "g.94055235C>T" "" "pathogenic" ""
"0000120480" "0" "90" "1" "94490600" "94490601" "del" "0" "01695" "ABCA4_000528" "g.94490600_94490601del" "" "{PMID:Boulanger-Scemama 2015:26103963}, {PMID:Boulanger-Scemama 2019:31574917}" "" "c.4546_4547del p.(Q1516Afs*38)" "" "Germline" "?" "" "0" "" "" "g.94025044_94025045del" "" "pathogenic" ""
"0000120481" "0" "90" "1" "94574251" "94574251" "dup" "0" "01695" "ABCA4_000216" "g.94574251dup" "" "{PMID:Boulanger-Scemama 2015:26103963}, {PMID:Boulanger-Scemama 2019:31574917}" "" "c.327dup" "" "Germline" "" "" "0" "" "" "g.94108695dup" "" "pathogenic" ""
"0000120482" "0" "90" "1" "94508350" "94508350" "subst" "0" "01695" "ABCA4_000633" "g.94508350A>G" "" "{PMID:Boulanger-Scemama 2015:26103963}, {PMID:Boulanger-Scemama 2019:31574917}" "" "c.3295T>C" "" "Germline" "?" "" "0" "" "" "g.94042794A>G" "" "pathogenic" ""
"0000120483" "0" "70" "1" "94574251" "94574251" "dup" "0" "01695" "ABCA4_000216" "g.94574251dup" "" "{PMID:Boulanger-Scemama 2015:26103963}, {PMID:Boulanger-Scemama 2019:31574917}" "" "c.327dup" "" "Germline" "" "" "0" "" "" "g.94108695dup" "" "likely pathogenic" ""
"0000120484" "0" "90" "1" "94508350" "94508350" "subst" "0" "01695" "ABCA4_000633" "g.94508350A>G" "" "{PMID:Boulanger-Scemama 2015:26103963}, {PMID:Boulanger-Scemama 2019:31574917}" "" "c.3295T>C" "" "Germline" "?" "" "0" "" "" "g.94042794A>G" "" "pathogenic" ""
"0000120485" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "ExAC 14, 121282, 0, 0.0001154" "{PMID:Boulanger-Scemama 2015:26103963}, {PMID:Boulanger-Scemama 2019:31574917}" "" "c.3322C>T" "" "Germline" "?" "" "0" "" "" "g.94042767G>A" "" "pathogenic" ""
"0000120486" "0" "70" "1" "94485137" "94485137" "subst" "0" "01695" "ABCA4_000464" "g.94485137C>T" "ExAC 3, 49858, 0, 0.00006017" "{PMID:Boulanger-Scemama 2015:26103963}, {PMID:Boulanger-Scemama 2019:31574917}" "" "c.5196+1G>A" "" "Germline" "" "" "0" "" "" "g.94019581C>T" "" "likely pathogenic" ""
"0000120487" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "ExAC 613, 121302, 4, 0.005054" "{PMID:Boulanger-Scemama 2015:26103963}, {PMID:Boulanger-Scemama 2019:31574917}" "" "c.5882G>A" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000120488" "0" "50" "1" "94544977" "94544977" "subst" "0.000544432" "01695" "ABCA4_000332" "g.94544977A>T" "ExAC 60, 121404, 0, 0.0004942" "{PMID:Boulanger-Scemama 2015:26103963}, {PMID:Boulanger-Scemama 2019:31574917}" "" "c.1140T>A" "" "Germline" "" "" "0" "" "" "g.94079421A>T" "" "VUS" ""
"0000120489" "0" "50" "1" "94520708" "94520708" "subst" "0.00102774" "01695" "ABCA4_000074" "g.94520708A>G" "ExAC 162, 121382, 1, 0.001335" "{PMID:Boulanger-Scemama 2015:26103963}, {PMID:Boulanger-Scemama 2019:31574917}" "" "c.2546T>C" "" "Germline" "" "" "0" "" "" "g.94055152A>G" "" "VUS" ""
"0000120490" "0" "50" "1" "94514477" "94514477" "subst" "0.00118992" "01695" "ABCA4_000700" "g.94514477G>A" "ExAC 138, 121252, 1, 0.001138" "{PMID:Boulanger-Scemama 2015:26103963}, {PMID:Boulanger-Scemama 2019:31574917}" "" "c.2690C>T" "" "Germline" "" "" "0" "" "" "g.94048921G>A" "" "VUS" ""
"0000120491" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "ExAC 613, 121302, 4, 0.005054" "{PMID:Boulanger-Scemama 2015:26103963}, {PMID:Boulanger-Scemama 2019:31574917}" "" "c.5882G>A" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000120492" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "ExAC 613, 121302, 4, 0.005054" "{PMID:Boulanger-Scemama 2015:26103963}, {PMID:Boulanger-Scemama 2019:31574917}" "" "c.2690C>T" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000120493" "0" "50" "1" "94506902" "94506902" "subst" "1.21834E-5" "01695" "ABCA4_000623" "g.94506902G>A" "ExAC 2, 121396, 0, 0.00001648" "{PMID:Allikmets 1997:9295268}" "" "R1129C" "" "Germline" "" "" "0" "" "" "g.94041346G>A" "" "VUS" ""
"0000120494" "0" "50" "1" "94463617" "94463627" "del" "0" "01695" "ABCA4_000809" "g.94463617_94463627del" "" "{PMID:Allikmets 1997:9295268}" "" "R1129C" "" "Germline" "" "" "0" "" "" "g.93998061_93998071del" "" "VUS" ""
"0000120495" "3" "90" "1" "94528223" "94528223" "del" "0" "01695" "ABCA4_000274" "g.94528223del" "" "{PMID:Martinez-Mir 1998:9425888}" "" "1847delA, 3523IVS-28T>C, 5584IVS+34C>T" "" "Germline" "?" "" "0" "" "" "g.94062667del" "" "pathogenic" ""
"0000120496" "3" "90" "1" "94505711" "94505711" "subst" "0.00425289" "01695" "ABCA4_000612" "g.94505711A>G" "" "{PMID:Martinez-Mir 1998:9425888}" "" "1847delA, 3523IVS-28T>C, 5584IVS+34C>T" "" "Germline" "?" "" "0" "" "" "g.94040155A>G" "" "pathogenic" ""
"0000120497" "3" "50" "1" "94476784" "94476784" "subst" "0" "01695" "ABCA4_000425" "g.94476784G>A" "" "{PMID:Martinez-Mir 1998:9425888}" "" "1847delA, 3523IVS-28T>C, 5584IVS+34C>T" "" "Germline" "?" "" "0" "" "" "g.94011228G>A" "" "VUS" ""
"0000120498" "3" "90" "1" "94528223" "94528223" "del" "0" "01695" "ABCA4_000274" "g.94528223del" "" "{PMID:Martinez-Mir 1998:9425888}" "" "1847delA, 3523IVS-28T>C, 5584IVS+34C>T" "" "Germline" "?" "" "0" "" "" "g.94062667del" "" "pathogenic" ""
"0000120499" "3" "90" "1" "94505711" "94505711" "subst" "0.00425289" "01695" "ABCA4_000612" "g.94505711A>G" "" "{PMID:Martinez-Mir 1998:9425888}" "" "1847delA, 3523IVS-28T>C, 5584IVS+34C>T" "" "Germline" "?" "" "0" "" "" "g.94040155A>G" "" "pathogenic" ""
"0000120500" "3" "50" "1" "94476784" "94476784" "subst" "0" "01695" "ABCA4_000425" "g.94476784G>A" "" "{PMID:Martinez-Mir 1998:9425888}" "" "1847delA, 3523IVS-28T>C, 5584IVS+34C>T" "" "Germline" "?" "" "0" "" "" "g.94011228G>A" "" "VUS" ""
"0000120501" "3" "90" "1" "94528223" "94528223" "del" "0" "01695" "ABCA4_000274" "g.94528223del" "" "{PMID:Martinez-Mir 1998:9425888}" "" "1847delA, 3523IVS-28T>C, 5584IVS+34C>T" "" "Germline" "?" "" "0" "" "" "g.94062667del" "" "pathogenic" ""
"0000120502" "3" "90" "1" "94505711" "94505711" "subst" "0.00425289" "01695" "ABCA4_000612" "g.94505711A>G" "" "{PMID:Martinez-Mir 1998:9425888}" "" "1847delA, 3523IVS-28T>C, 5584IVS+34C>T" "" "Germline" "?" "" "0" "" "" "g.94040155A>G" "" "pathogenic" ""
"0000120503" "3" "50" "1" "94476784" "94476784" "subst" "0" "01695" "ABCA4_000425" "g.94476784G>A" "" "{PMID:Martinez-Mir 1998:9425888}" "" "1847delA, 3523IVS-28T>C, 5584IVS+34C>T" "" "Germline" "?" "" "0" "" "" "g.94011228G>A" "" "VUS" ""
"0000120504" "3" "90" "1" "94528223" "94528223" "del" "0" "01695" "ABCA4_000274" "g.94528223del" "" "{PMID:Martinez-Mir 1998:9425888}" "" "1847delA, 3523IVS-28T>C, 5584IVS+34C>T" "" "Germline" "?" "" "0" "" "" "g.94062667del" "" "pathogenic" ""
"0000120505" "3" "90" "1" "94505711" "94505711" "subst" "0.00425289" "01695" "ABCA4_000612" "g.94505711A>G" "" "{PMID:Martinez-Mir 1998:9425888}" "" "1847delA, 3523IVS-28T>C, 5584IVS+34C>T" "" "Germline" "?" "" "0" "" "" "g.94040155A>G" "" "pathogenic" ""
"0000120506" "3" "50" "1" "94476784" "94476784" "subst" "0" "01695" "ABCA4_000425" "g.94476784G>A" "" "{PMID:Martinez-Mir 1998:9425888}" "" "1847delA, 3523IVS-28T>C, 5584IVS+34C>T" "" "Germline" "?" "" "0" "" "" "g.94011228G>A" "" "VUS" ""
"0000120507" "3" "90" "1" "94528223" "94528223" "del" "0" "01695" "ABCA4_000274" "g.94528223del" "" "{PMID:Martinez-Mir 1998:9425888}" "" "1847delA, 3523IVS-28T>C, 5584IVS+34C>T" "" "Germline" "?" "" "0" "" "" "g.94062667del" "" "pathogenic" ""
"0000120508" "3" "90" "1" "94505711" "94505711" "subst" "0.00425289" "01695" "ABCA4_000612" "g.94505711A>G" "" "{PMID:Martinez-Mir 1998:9425888}" "" "1847delA, 3523IVS-28T>C, 5584IVS+34C>T" "" "Germline" "?" "" "0" "" "" "g.94040155A>G" "" "pathogenic" ""
"0000120509" "3" "50" "1" "94476784" "94476784" "subst" "0" "01695" "ABCA4_000425" "g.94476784G>A" "" "{PMID:Martinez-Mir 1998:9425888}" "" "1847delA, 3523IVS-28T>C, 5584IVS+34C>T" "" "Germline" "?" "" "0" "" "" "g.94011228G>A" "" "VUS" ""
"0000120510" "3" "90" "1" "94528223" "94528223" "del" "0" "01695" "ABCA4_000274" "g.94528223del" "" "{PMID:Martinez-Mir 1998:9425888}" "" "1847delA, 3523IVS-28T>C, 5584IVS+34C>T" "" "Germline" "?" "" "0" "" "" "g.94062667del" "" "pathogenic" ""
"0000120511" "3" "90" "1" "94505711" "94505711" "subst" "0.00425289" "01695" "ABCA4_000612" "g.94505711A>G" "" "{PMID:Martinez-Mir 1998:9425888}" "" "1847delA, 3523IVS-28T>C, 5584IVS+34C>T" "" "Germline" "?" "" "0" "" "" "g.94040155A>G" "" "pathogenic" ""
"0000120512" "3" "50" "1" "94476784" "94476784" "subst" "0" "01695" "ABCA4_000425" "g.94476784G>A" "" "{PMID:Martinez-Mir 1998:9425888}" "" "1847delA, 3523IVS-28T>C, 5584IVS+34C>T" "" "Germline" "?" "" "0" "" "" "g.94011228G>A" "" "VUS" ""
"0000120513" "0" "90" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "ExAC 42, 120772, 0, 0.0003478" "{PMID:Cremers 1998:9466990}, {PMID:Klevering 1999:10413692}" "" "IVS40+5G>A" "" "Germline" "yes" "" "0" "" "" "g.94010795C>T" "" "pathogenic" ""
"0000120514" "0" "90" "1" "94495000" "94495000" "subst" "0" "01695" "ABCA4_000164" "g.94495000C>A" "" "{PMID:Cremers 1998:9466990}, {PMID:Klevering 1999:10413692}" "" "IVS30+1G→T" "" "Germline" "" "" "0" "" "" "g.94029444C>A" "" "pathogenic" ""
"0000120515" "0" "90" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "ExAC 42, 120772, 0, 0.0003478" "{PMID:Cremers 1998:9466990}, {PMID:Klevering 1999:10413692}" "" "IVS40+5G>A" "" "Germline" "yes" "" "0" "" "" "g.94010795C>T" "" "pathogenic" ""
"0000120516" "0" "90" "1" "94495000" "94495000" "subst" "0" "01695" "ABCA4_000164" "g.94495000C>A" "" "{PMID:Cremers 1998:9466990}, {PMID:Klevering 1999:10413692}" "" "IVS30+1G→T" "" "Germline" "" "" "0" "" "" "g.94029444C>A" "" "pathogenic" ""
"0000120517" "3" "90" "1" "94495000" "94495000" "subst" "0" "01695" "ABCA4_000164" "g.94495000C>A" "" "{PMID:Cremers 1998:9466990}" "" "IVS30+1G→T" "" "Germline" "yes" "" "0" "" "" "g.94029444C>A" "" "pathogenic" ""
"0000120518" "0" "90" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "ExAC 42, 120772, 0, 0.0003478" "{PMID:Cremers 1998:9466990}, {PMID:Klevering 1999:10413692}" "" "IVS40+5G>A" "" "Germline" "yes" "" "0" "" "" "g.94010795C>T" "" "pathogenic" ""
"0000120519" "0" "90" "1" "94495000" "94495000" "subst" "0" "01695" "ABCA4_000164" "g.94495000C>A" "" "{PMID:Cremers 1998:9466990}, {PMID:Klevering 1999:10413692}" "" "IVS30+1G→T" "" "Germline" "" "" "0" "" "" "g.94029444C>A" "" "pathogenic" ""
"0000120520" "3" "90" "1" "94495000" "94495000" "subst" "0" "01695" "ABCA4_000164" "g.94495000C>A" "" "{PMID:Cremers 1998:9466990}" "" "IVS30+1G→T" "" "Germline" "yes" "" "0" "" "" "g.94029444C>A" "" "pathogenic" ""
"0000120521" "3" "90" "1" "94495000" "94495000" "subst" "0" "01695" "ABCA4_000164" "g.94495000C>A" "" "{PMID:Cremers 1998:9466990}" "" "IVS30+1G→T" "" "Germline" "yes" "" "0" "" "" "g.94029444C>A" "" "pathogenic" ""
"0000120522" "0" "90" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "ExAC 42, 120772, 0, 0.0003478" "{PMID:Cremers 1998:9466990}, {PMID:Klevering 1999:10413692}" "" "IVS40+5G>A" "" "Germline" "yes" "" "0" "" "" "g.94010795C>T" "" "pathogenic" ""
"0000120523" "0" "90" "1" "94495000" "94495000" "subst" "0" "01695" "ABCA4_000164" "g.94495000C>A" "" "{PMID:Cremers 1998:9466990}, {PMID:Klevering 1999:10413692}" "" "IVS30+1G→T" "" "Germline" "" "" "0" "" "" "g.94029444C>A" "" "pathogenic" ""
"0000120524" "0" "90" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "ExAC 42, 120772, 0, 0.0003478" "{PMID:Cremers 1998:9466990}, {PMID:Klevering 1999:10413692}" "" "IVS40+5G>A" "" "Germline" "yes" "" "0" "" "" "g.94010795C>T" "" "pathogenic" ""
"0000120525" "0" "90" "1" "94495000" "94495000" "subst" "0" "01695" "ABCA4_000164" "g.94495000C>A" "" "{PMID:Cremers 1998:9466990}, {PMID:Klevering 1999:10413692}" "" "IVS30+1G→T" "" "Germline" "" "" "0" "" "" "g.94029444C>A" "" "pathogenic" ""
"0000120526" "3" "90" "1" "94495000" "94495000" "subst" "0" "01695" "ABCA4_000164" "g.94495000C>A" "" "{PMID:Cremers 1998:9466990}" "" "IVS30+1G→T" "" "Germline" "yes" "" "0" "" "" "g.94029444C>A" "" "pathogenic" ""
"0000120527" "0" "50" "1" "94495000" "94495000" "subst" "0" "01695" "ABCA4_000164" "g.94495000C>A" "" "{PMID:Cremers 1998:9466990}" "" "IVS30+1G→T" "" "Germline" "" "" "0" "" "" "g.94029444C>A" "" "VUS" ""
"0000120528" "0" "50" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "ExAC 42, 120772, 0, 0.0003478" "{PMID:Cremers 1998:9466990}" "" "IVS40+5G>A" "" "Germline" "" "" "0" "" "" "g.94010795C>T" "" "VUS" ""
"0000120529" "0" "50" "1" "94508976" "94508976" "subst" "1.21906E-5" "01695" "ABCA4_000655" "g.94508976C>T" "" "{PMID:Nasonkin 1998:9490294}" "" "G3106A" "" "Germline" "" "" "0" "" "" "g.94043420C>T" "" "VUS" ""
"0000120530" "0" "70" "1" "94471135" "94471135" "" "0" "01695" "ABCA4_002759" "g.94471135A>G" "" "{PMID:Nasonkin 1998:9490294}" "" "C6007T" "" "Germline" "?" "" "0" "" "" "g.94005579A>G" "" "likely pathogenic" ""
"0000120531" "0" "50" "1" "94508976" "94508976" "subst" "1.21906E-5" "01695" "ABCA4_000655" "g.94508976C>T" "" "{PMID:Nasonkin 1998:9490294}" "" "G3106A" "" "Germline" "" "" "0" "" "" "g.94043420C>T" "" "VUS" ""
"0000120532" "0" "70" "1" "94471135" "94471135" "" "0" "01695" "ABCA4_002759" "g.94471135A>G" "" "{PMID:Nasonkin 1998:9490294}" "" "C6007T" "" "Germline" "?" "" "0" "" "" "g.94005579A>G" "" "likely pathogenic" ""
"0000120533" "0" "50" "1" "94508435" "94508436" "dup" "0" "01695" "ABCA4_000998" "g.94508435_94508436dup" "" "{PMID:Nasonkin 1998:9490294}" "" "3211insGT" "" "Germline" "" "" "0" "" "" "g.94042879_94042880dup" "" "VUS" ""
"0000120534" "0" "50" "1" "94508435" "94508436" "dup" "0" "01695" "ABCA4_000998" "g.94508435_94508436dup" "" "{PMID:Nasonkin 1998:9490294}" "" "3211insGT" "" "Germline" "" "" "0" "" "" "g.94042879_94042880dup" "" "VUS" ""
"0000120535" "0" "50" "1" "94520689" "94520689" "subst" "0" "01695" "ABCA4_000711" "g.94520689C>T" "" "{PMID:Nasonkin 1998:9490294}" "" "G2565A" "" "Germline" "" "" "0" "" "" "g.94055133C>T" "" "VUS" ""
"0000120536" "0" "50" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "ExAC 26, 121404, 0, 0.0002142" "{PMID:Nasonkin 1998:9490294}" "" "C6079T" "" "Germline" "" "" "0" "" "" "g.94005509G>A" "" "VUS" ""
"0000120537" "0" "50" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "ExAC 26, 121404, 0, 0.0002142" "{PMID:Nasonkin 1998:9490294}" "" "C6079T" "" "Germline" "" "" "0" "" "" "g.94005509G>A" "" "VUS" ""
"0000120538" "3" "90" "1" "94564549" "94564549" "subst" "0" "01695" "ABCA4_000198" "g.94564549T>C" "" "{PMID:Gerber 1998:9503029}" "" "571: 2A > G" "" "Germline" "?" "" "0" "" "" "g.94098993T>C" "" "pathogenic" ""
"0000120539" "0" "50" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "ExAC 14, 120056, 0, 0.0001166" "{PMID:Gerber 1998:9503029}" "" "C > T transition at nucleotide 634" "" "Germline" "" "" "0" "" "" "g.94098928G>A" "" "VUS" ""
"0000120540" "3" "70" "1" "94586550" "94586550" "subst" "1.21864E-5" "01695" "ABCA4_000037" "g.94586550G>A" "ExAC 3, 121392, 0, 0.00002471" "{PMID:Gerber 1998:9503029}" "" "C > T transition at nucleotide 52" "" "Germline" "?" "" "0" "" "" "g.94120994G>A" "" "likely pathogenic" ""
"0000120541" "3" "70" "1" "94586550" "94586550" "subst" "1.21864E-5" "01695" "ABCA4_000037" "g.94586550G>A" "ExAC 3, 121392, 0, 0.00002471" "{PMID:Gerber 1998:9503029}" "" "C > T transition at nucleotide 52" "" "Germline" "?" "" "0" "" "" "g.94120994G>A" "" "likely pathogenic" ""
"0000120542" "3" "90" "1" "94564549" "94564549" "subst" "0" "01695" "ABCA4_000198" "g.94564549T>C" "" "{PMID:Rozet 1998:9781034}" "" "(571–2)A>G" "" "Germline" "?" "" "0" "" "" "g.94098993T>C" "" "pathogenic" ""
"0000120543" "0" "50" "1" "94526317" "94526317" "subst" "0" "01695" "ABCA4_000770" "g.94526317T>C" "" "{PMID:Rozet 1998:9781034}" "" "(1938–2)A>G" "" "Germline" "" "" "0" "" "" "g.94060761T>C" "" "VUS" ""
"0000120544" "0" "50" "1" "94487508" "94487508" "subst" "0" "01695" "ABCA4_000508" "g.94487508C>T" "" "{PMID:Rozet 1998:9781034}" "" "(4668+2)T>C" "" "Germline" "" "" "0" "" "" "g.94021952C>T" "" "VUS" ""
"0000120545" "0" "70" "1" "94485132" "94485137" "del" "0" "01695" "ABCA4_000461" "g.94485132_94485137del" "" "{PMID:Rozet 1998:9781034}" "" "del(5196+1–5196+6" "" "Germline" "" "" "0" "" "" "g.94019576_94019581del" "" "likely pathogenic" ""
"0000120546" "0" "90" "1" "94528162" "94528162" "subst" "0" "01695" "ABCA4_000266" "g.94528162C>A" "" "{PMID:Rozet 1998:9781034}" "" "G1908T" "" "Germline" "?" "" "0" "" "" "g.94062606C>A" "" "pathogenic" ""
"0000120547" "0" "50" "1" "94520684" "94520684" "del" "0" "01695" "ABCA4_000709" "g.94520684del" "" "{PMID:Rozet 1998:9781034}" "" "2570 delT" "" "Germline" "" "" "0" "" "" "g.94055128del" "" "VUS" ""
"0000120548" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "ExAC 173, 121304, 0, 0.001426" "{PMID:Rozet 1998:9781034}" "" "C3114T" "" "Germline" "?" "" "0" "" "" "g.94043413G>A" "" "pathogenic" ""
"0000120549" "0" "30" "1" "94508435" "94508436" "dup" "0" "01695" "ABCA4_000998" "g.94508435_94508436dup" "" "{PMID:Rozet 1998:9781034}" "" "3209insGT" "" "Germline" "" "" "0" "" "" "g.94042879_94042880dup" "" "likely benign" ""
"0000120550" "0" "50" "1" "94502760" "94502760" "subst" "4.0626E-6" "01695" "ABCA4_000599" "g.94502760C>A" "" "{PMID:Rozet 1998:9781034}" "" "G3754T" "" "Germline" "" "" "0" "" "" "g.94037204C>A" "" "VUS" ""
"0000120551" "0" "50" "1" "94497468" "94497468" "subst" "0" "01695" "ABCA4_000582" "g.94497468G>A" "" "{PMID:Rozet 1998:9781034}" "" "C3994T" "" "Germline" "" "" "0" "" "" "g.94031912G>A" "" "VUS" ""
"0000120552" "0" "50" "1" "94466605" "94466605" "subst" "0" "01695" "ABCA4_000157" "g.94466605G>C" "" "{PMID:Rozet 1998:9781034}" "" "C6337G" "" "Germline" "" "" "0" "" "" "g.94001049G>C" "" "VUS" ""
"0000120553" "0" "90" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "ExAC 14, 120056, 0, 0.0001166" "{PMID:Rozet 1998:9781034}" "" "C634T" "" "Germline" "?" "" "0" "" "" "g.94098928G>A" "" "pathogenic" ""
"0000120554" "0" "70" "1" "94466605" "94466605" "subst" "0" "01695" "ABCA4_000157" "g.94466605G>C" "" "{PMID:Rozet 1998:9781034}" "" "C6337G, I2113X" "variant description?" "Germline" "" "" "0" "" "" "g.94001049G>C" "" "likely pathogenic" ""
"0000120555" "0" "50" "1" "94586550" "94586550" "subst" "1.21864E-5" "01695" "ABCA4_000037" "g.94586550G>A" "ExAC 3, 121392, 0, 0.00002471" "{PMID:Rozet 1998:9781034}" "" "C52T" "" "Germline" "" "" "0" "" "" "g.94120994G>A" "" "VUS" ""
"0000120556" "0" "50" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "ExAC 14, 120056, 0, 0.0001166" "{PMID:Rozet 1998:9781034}" "" "C634T" "" "Germline" "" "" "0" "" "" "g.94098928G>A" "" "VUS" ""
"0000120557" "0" "50" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "ExAC 14, 120056, 0, 0.0001166" "{PMID:Rozet 1998:9781034}" "" "C634T" "" "Germline" "" "" "0" "" "" "g.94098928G>A" "" "VUS" ""
"0000120558" "0" "50" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "ExAC 14, 120056, 0, 0.0001166" "{PMID:Rozet 1998:9781034}" "" "C634T" "" "Germline" "" "" "0" "" "" "g.94098928G>A" "" "VUS" ""
"0000120559" "0" "90" "1" "94473266" "94473266" "subst" "8.14677E-6" "01695" "ABCA4_000389" "g.94473266C>T" "ExAC 1, 120422, 0, 0.000008304" "{PMID:Rozet 1998:9781034}" "" "G5929A" "" "Germline" "?" "" "0" "" "" "g.94007710C>T" "" "pathogenic" ""
"0000120560" "0" "70" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "ExAC 14, 120056, 0, 0.0001166" "{PMID:Rozet 1998:9781034}" "" "C634T" "" "Germline" "" "" "0" "" "" "g.94098928G>A" "" "likely pathogenic" ""
"0000120561" "0" "50" "1" "94509026" "94509026" "subst" "4.06497E-5" "01695" "ABCA4_000660" "g.94509026G>A" "ExAC 5, 120988, 0, 0.00004133" "{PMID:Rozet 1998:9781034}" "" "C3056T" "" "Germline" "" "" "0" "" "" "g.94043470G>A" "" "VUS" ""
"0000120562" "0" "30" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "ExAC 14, 121282, 0, 0.0001154" "{PMID:Rozet 1998:9781034}" "" "C3322T, R1107C" "" "Germline" "" "" "0" "" "" "g.94042767G>A" "" "likely benign" ""
"0000120563" "0" "70" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "ExAC 227, 121250, 3, 0.001872" "{PMID:Rozet 1998:9781034}" "" "G6320A" "" "Germline" "?" "" "0" "" "" "g.94001068C>T" "" "likely pathogenic" ""
"0000120564" "3" "70" "1" "94486896" "94486896" "subst" "3.65562E-5" "01695" "ABCA4_000085" "g.94486896G>A" "ExAC 1, 121394, 0, 0.000008238" "{PMID:Rozet 1998:9781034}" "" "C4916T" "" "Germline" "?" "" "0" "" "" "g.94021340G>A" "" "likely pathogenic" ""
"0000120565" "0" "50" "1" "94486896" "94486896" "subst" "3.65562E-5" "01695" "ABCA4_000085" "g.94486896G>A" "ExAC 1, 121394, 0, 0.000008238" "{PMID:Rozet 1998:9781034}" "" "C4916T" "" "Germline" "" "" "0" "" "" "g.94021340G>A" "" "VUS" ""
"0000120566" "0" "50" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "ExAC 173, 121304, 0, 0.001426" "{PMID:Rozet 1998:9781034}" "" "C3114T" "" "Germline" "" "" "0" "" "" "g.94043413G>A" "" "VUS" ""
"0000120567" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Rozet 1998:9781034}" "" "C3114T, T1622C" "" "Germline" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000120568" "1" "50" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Rozet 1998:9781034}" "" "C3114T, T1622C" "" "Germline" "" "" "0" "" "" "g.94043413G>A" "" "VUS" ""
"0000120569" "0" "50" "1" "94586570" "94586570" "subst" "4.06101E-6" "01695" "ABCA4_000154" "g.94586570A>G" "ExAC 1, 121404, 0, 0.000008237" "{PMID:Rozet 1998:9781034}" "" "T31C" "" "Germline" "" "" "0" "" "" "g.94121014A>G" "" "VUS" ""
"0000120570" "0" "50" "1" "94508373" "94508373" "subst" "0" "01695" "ABCA4_000639" "g.94508373C>T" "" "{PMID:Rozet 1998:9781034}" "" "G3272A, G1090E" "" "Germline" "" "" "0" "" "" "g.94042817C>T" "" "VUS" ""
"0000120571" "0" "50" "1" "94495018" "94495018" "subst" "0" "01695" "ABCA4_000536" "g.94495018C>A" "" "{PMID:Rozet 1998:9781034}" "" "G4522T" "" "Germline" "" "" "0" "" "" "g.94029462C>A" "" "VUS" ""
"0000120572" "0" "70" "1" "94473287" "94473287" "subst" "0.00293818" "01695" "ABCA4_000395" "g.94473287G>A" "ExAC 352, 120336, 1, 0.002925" "{PMID:Rozet 1998:9781034}" "" "C5908T" "" "Germline" "" "" "0" "" "" "g.94007731G>A" "" "likely pathogenic" ""
"0000120573" "0" "30" "1" "94473283" "94473283" "subst" "0" "01695" "ABCA4_000394" "g.94473283A>C" "" "{PMID:Rozet 1998:9781034}" "" "T5912G" "" "Germline" "?" "" "0" "" "" "g.94007727A>C" "" "likely benign" ""
"0000120574" "3" "70" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "ExAC 14, 120056, 0, 0.0001166" "{PMID:Simonelli 2000:10711710}, {PMID:Testa 2012:22661472}" "" "R212C" "" "Germline" "yes" "" "0" "" "" "g.94098928G>A" "" "likely pathogenic" ""
"0000120575" "3" "70" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "ExAC 14, 120056, 0, 0.0001166" "{PMID:Simonelli 2000:10711710}" "" "R212C" "" "Germline" "yes" "" "0" "" "" "g.94098928G>A" "" "likely pathogenic" ""
"0000120576" "11" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "ExAC 613, 121302, 4, 0.005054" "{PMID:Simonelli 2000:10711710}" "" "G1961E" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "pathogenic" ""
"0000120577" "20" "70" "1" "94577046" "94577049" "dup" "0" "01695" "ABCA4_000227" "g.94577046_94577049dup" "" "{PMID:Simonelli 2000:10711710}" "" "250▼CAAA" "" "Germline" "" "" "0" "" "" "g.94111490_94111493dup" "" "likely pathogenic" ""
"0000120578" "11" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "ExAC 613, 121302, 4, 0.005054" "{PMID:Simonelli 2000:10711710}" "" "G1961E" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "pathogenic" ""
"0000120579" "20" "70" "1" "94577046" "94577049" "dup" "0" "01695" "ABCA4_000227" "g.94577046_94577049dup" "" "{PMID:Simonelli 2000:10711710}" "" "250▼CAAA" "" "Germline" "" "" "0" "" "" "g.94111490_94111493dup" "" "likely pathogenic" ""
"0000120580" "3" "90" "1" "94486794" "94486794" "subst" "0" "01695" "ABCA4_000478" "g.94486794A>G" "" "{PMID:Simonelli 2000:10711710}" "" "5018+2T>C" "" "Germline" "yes" "" "0" "" "" "g.94021238A>G" "" "pathogenic" ""
"0000120581" "21" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "ExAC 613, 121302, 4, 0.005054" "{PMID:Simonelli 2000:10711710}" "" "G1961E" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000120582" "10" "70" "1" "94486895" "94486895" "subst" "3.24923E-5" "01695" "ABCA4_000484" "g.94486895C>T" "ExAC 7, 121398, 0, 0.00005766" "{PMID:Simonelli 2000:10711710}" "" "R1640Q" "" "Germline" "" "" "0" "" "" "g.94021339C>T" "" "likely pathogenic" ""
"0000120583" "21" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "ExAC 613, 121302, 4, 0.005054" "{PMID:Simonelli 2000:10711710}" "" "G1961E" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000120584" "10" "70" "1" "94486895" "94486895" "subst" "3.24923E-5" "01695" "ABCA4_000484" "g.94486895C>T" "ExAC 7, 121398, 0, 0.00005766" "{PMID:Simonelli 2000:10711710}" "" "R1640Q" "" "Germline" "" "" "0" "" "" "g.94021339C>T" "" "likely pathogenic" ""
"0000120585" "21" "70" "1" "94508386" "94508386" "subst" "1.62443E-5" "01695" "ABCA4_000642" "g.94508386C>T" "ExAC 4, 121376, 0, 0.00003296" "{PMID:Simonelli 2000:10711710}" "" "E1087K" "" "Germline" "" "" "0" "" "" "g.94042830C>T" "" "likely pathogenic" ""
"0000120586" "10" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "ExAC 613, 121302, 4, 0.005054" "{PMID:Simonelli 2000:10711710}" "" "G1961E" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000120587" "0" "90" "1" "94522239" "94522239" "subst" "2.03305E-5" "01695" "ABCA4_000736" "g.94522239A>T" "ExAC 1, 119332, 0, 0.00000838" "{PMID:Simonelli 2000:10711710}, {PMID:Testa 2012:22661472}" "" "V767D" "" "Germline" "?" "" "0" "" "" "g.94056683A>T" "" "pathogenic" ""
"0000120588" "0" "70" "1" "94577046" "94577049" "dup" "0" "01695" "ABCA4_000227" "g.94577046_94577049dup" "" "{PMID:Simonelli 2000:10711710}, {PMID:Testa 2012:22661472}" "" "250▼CAAA" "" "Germline" "" "" "0" "" "" "g.94111490_94111493dup" "" "likely pathogenic" ""
"0000120589" "0" "50" "1" "94514477" "94514477" "subst" "0.00118992" "01695" "ABCA4_000700" "g.94514477G>A" "ExAC 138, 121252, 1, 0.001138" "{PMID:Simonelli 2000:10711710}" "" "T897I" "" "Germline" "" "" "0" "" "" "g.94048921G>A" "" "VUS" ""
"0000120590" "0" "50" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "ExAC 173, 121304, 0, 0.001426" "{PMID:Simonelli 2000:10711710}" "" "C3114T" "" "Germline" "" "" "0" "" "" "g.94043413G>A" "" "VUS" ""
"0000120591" "0" "50" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "ExAC 173, 121304, 0, 0.001426" "{PMID:Simonelli 2000:10711710}" "" "C3114T" "" "Germline" "" "" "0" "" "" "g.94043413G>A" "" "VUS" ""
"0000120592" "0" "50" "1" "94486794" "94486794" "subst" "0" "01695" "ABCA4_000478" "g.94486794A>G" "" "{PMID:Simonelli 2000:10711710}" "" "5018+2T>C" "" "Germline" "" "" "0" "" "" "g.94021238A>G" "" "VUS" ""
"0000120593" "0" "50" "1" "94486794" "94486794" "subst" "0" "01695" "ABCA4_000478" "g.94486794A>G" "" "{PMID:Simonelli 2000:10711710}" "" "5018+2T>C" "" "Germline" "" "" "0" "" "" "g.94021238A>G" "" "VUS" ""
"0000120594" "0" "50" "1" "94496610" "94496610" "subst" "2.03128E-5" "01695" "ABCA4_000571" "g.94496610C>T" "ExAC 2, 120596, 0, 0.00001658" "{PMID:Simonelli 2000:10711710}" "" "E1399K" "" "Germline" "" "" "0" "" "" "g.94031054C>T" "" "VUS" ""
"0000120595" "3" "50" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "ExAC 27, 121030, 0, 0.0002231" "{PMID:Klevering 2004:15494742}" "" "IVS38-10T>C" "" "Germline" "?" "" "0" "" "" "g.94011395A>G" "" "VUS" ""
"0000120596" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Klevering 2004:15494742}" "" "1622T>C; 3113C>T" "" "Germline" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000120597" "1" "50" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Klevering 2004:15494742}" "" "1622T>C; 3113C>T" "" "Germline" "" "" "0" "" "" "g.94043413G>A" "" "VUS" ""
"0000120598" "0" "50" "1" "94486896" "94486896" "subst" "3.65562E-5" "01695" "ABCA4_000085" "g.94486896G>A" "ExAC 1, 121394, 0, 0.000008238" "{PMID:Klevering 2004:15494742}" "" "4918C>T" "" "Germline" "" "" "0" "" "" "g.94021340G>A" "" "VUS" ""
"0000120599" "0" "70" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "ExAC 27, 121030, 0, 0.0002231" "{PMID:Klevering 2004:15494742}" "" "IVS38-10T>C" "" "Germline" "" "" "0" "" "" "g.94011395A>G" "" "likely pathogenic" ""
"0000120600" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Klevering 2004:15494742}" "" "1622T>C; 3113C>T" "" "Germline" "?" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000120601" "1" "50" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Klevering 2004:15494742}" "" "1622T>C; 3113C>T" "" "Germline" "?" "" "0" "" "" "g.94043413G>A" "" "VUS" ""
"0000120602" "0" "90" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "ExAC 42, 120772, 0, 0.0003478" "{PMID:Klevering 2004:15494742}" "" "IVS40+5G>A" "" "Germline" "?" "" "0" "" "" "g.94010795C>T" "" "pathogenic" ""
"0000120603" "0" "90" "1" "94485136" "94485136" "subst" "0" "01695" "ABCA4_000189" "g.94485136A>G" "" "{PMID:Klevering 2004:15494742}" "" "IVS36+2T>C" "" "Germline" "" "" "0" "" "" "g.94019580A>G" "" "pathogenic" ""
"0000120604" "0" "70" "1" "94522239" "94522239" "subst" "2.03305E-5" "01695" "ABCA4_000736" "g.94522239A>T" "ExAC 1, 119332, 0, 0.00000838" "{PMID:Klevering 2004:15494742}" "" "2300T>A" "" "Germline" "?" "" "0" "" "" "g.94056683A>T" "" "likely pathogenic" ""
"0000120605" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Klevering 2004:15494742}" "" "1622T>C; 3113C>T" "" "Germline" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000120606" "1" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Klevering 2004:15494742}" "" "1622T>C; 3113C>T" "" "Germline" "" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic" ""
"0000120607" "0" "50" "1" "94586550" "94586550" "subst" "1.21864E-5" "01695" "ABCA4_000037" "g.94586550G>A" "ExAC 3, 121392, 0, 0.00002471" "{PMID:Klevering 2004:15494742}" "" "52C>T" "" "Germline" "" "" "0" "" "" "g.94120994G>A" "" "VUS" ""
"0000120608" "0" "50" "1" "94578619" "94578619" "subst" "2.85088E-5" "01695" "ABCA4_000253" "g.94578619G>A" "ExAC 5, 120400, 0, 0.00004153" "{PMID:Klevering 2004:15494742}" "" "70C>T" "" "Germline" "?" "" "0" "" "" "g.94113063G>A" "" "VUS" ""
"0000120609" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "ExAC 613, 121302, 4, 0.005054" "{PMID:Klevering 2004:15494742}" "" "5882G>A" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000120610" "3" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Klevering 2004:15494742}" "" "2588G>C; 2828G>A" "" "Germline" "?" "rs76157638" "0" "" "" "g.94051698C>G" "" "pathogenic" ""
"0000120611" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Klevering 2004:15494742}" "" "1622T>C; 3113C>T" "" "Germline" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000120612" "1" "50" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Klevering 2004:15494742}" "" "1622T>C; 3113C>T" "" "Germline" "" "" "0" "" "" "g.94043413G>A" "" "VUS" ""
"0000120613" "0" "50" "1" "94568660" "94568660" "subst" "4.06138E-6" "01695" "ABCA4_000208" "g.94568660C>T" "" "{PMID:Klevering 2004:15494742}" "" "5381C>A 481G>A" "" "Germline" "" "" "0" "" "" "g.94103104C>T" "" "VUS" ""
"0000120614" "0" "50" "1" "94528281" "94528281" "subst" "4.07292E-6" "01695" "ABCA4_000287" "g.94528281G>A" "" "{PMID:Klevering 2004:15494742}" "" "1789C>T" "" "Germline" "?" "" "0" "" "" "g.94062725G>A" "" "VUS" ""
"0000120615" "0" "50" "1" "94508386" "94508386" "subst" "1.62443E-5" "01695" "ABCA4_000642" "g.94508386C>T" "ExAC 4, 121376, 0, 0.00003296" "{PMID:Klevering 2004:15494742}" "" "3259G>A" "" "Germline" "" "" "0" "" "" "g.94042830C>T" "" "VUS" ""
"0000120616" "0" "70" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "ExAC 27, 121030, 0, 0.0002231" "{PMID:Klevering 2004:15494742}" "" "IVS38-10T>C" "" "Germline" "?" "" "0" "" "" "g.94011395A>G" "" "likely pathogenic" ""
"0000120617" "1" "50" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Klevering 2004:15494742}" "" "1622T>C; 3113C>T" "" "Germline" "" "" "0" "" "" "g.94063250A>G" "" "VUS" ""
"0000120618" "1" "50" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Klevering 2004:15494742}" "" "1622T>C; 3113C>T" "" "Germline" "" "" "0" "" "" "g.94043413G>A" "" "VUS" ""
"0000120619" "0" "50" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "ExAC 13, 121216, 0, 0.0001072" "{PMID:Klevering 2004:15494742}" "" "768G>T" "" "Germline" "?" "" "0" "" "" "g.94098794C>A" "" "VUS" ""
"0000120620" "0" "90" "1" "94577102" "94577102" "subst" "4.06161E-6" "01695" "ABCA4_000033" "g.94577102C>T" "" "{PMID:Klevering 2004:15494742}" "" "194G>A" "" "Germline" "" "" "0" "" "" "g.94111546C>T" "" "pathogenic" ""
"0000120621" "2" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Klevering 2004:15494742}" "" "2588G>C; 2828G>A" "" "Germline" "" "rs76157638" "0" "" "" "g.94051698C>G" "" "likely pathogenic" ""
"0000120622" "1" "50" "1" "94528217" "94528217" "subst" "0" "01695" "ABCA4_000272" "g.94528217C>T" "" "{PMID:Klevering 2004:15494742}" "" "1853G>A; 4297G>A" "" "Germline" "yes" "" "0" "" "" "g.94062661C>T" "" "VUS" ""
"0000120623" "1" "90" "1" "94496039" "94496039" "subst" "0.00157963" "01695" "ABCA4_000552" "g.94496039C>T" "" "{PMID:Klevering 2004:15494742}" "" "1853G>A; 4297G>A" "" "Germline" "yes" "" "0" "" "" "g.94030483C>T" "" "pathogenic" ""
"0000120624" "1" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Klevering 2004:15494742}" "" "2588G>C; 2828G>A" "unknown variant 2nd chromosome" "Germline" "" "rs76157638" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000120625" "0" "50" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "ExAC 13, 121216, 0, 0.0001072" "{PMID:Klevering 2004:15494742}" "" "768G>T" "" "Germline" "" "" "0" "" "" "g.94098794C>A" "" "VUS" ""
"0000120626" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "ExAC 27, 121030, 0, 0.0002231" "{PMID:Klevering 2004:15494742}" "" "IVS38-10T>C" "" "Germline" "yes" "" "0" "" "" "g.94011395A>G" "" "pathogenic" ""
"0000120627" "0" "50" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "ExAC 13, 121216, 0, 0.0001072" "{PMID:Klevering 2004:15494742}" "" "768G>T" "" "Germline" "" "" "0" "" "" "g.94098794C>A" "" "VUS" ""
"0000120628" "1" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Klevering 2004:15494742}" "" "2588G>C; 2828G>A" "" "Germline" "" "rs76157638" "0" "" "" "g.94051698C>G" "" "pathogenic" ""
"0000120629" "2" "90" "1" "94473801" "94473801" "del" "0" "01695" "ABCA4_000402" "g.94473801del" "" "{PMID:Klevering 2004:15494742}" "" "5888delG" "" "Germline" "?" "" "0" "" "" "g.94008245del" "" "pathogenic" ""
"0000120630" "0" "50" "1" "94463617" "94463617" "subst" "0.0109114" "01695" "ABCA4_000013" "g.94463617C>T" "ExAC 1235, 121366, 14, 0.01018" "{PMID:Klevering 2004:15494742}" "" "6529G>A" "" "Germline" "" "" "0" "" "" "g.93998061C>T" "" "VUS" ""
"0000120631" "0" "50" "1" "94463617" "94463617" "subst" "0.0109114" "01695" "ABCA4_000013" "g.94463617C>T" "ExAC 1235, 121366, 14, 0.01018" "{PMID:Klevering 2004:15494742}" "" "6529G>A" "" "Germline" "" "" "0" "" "" "g.93998061C>T" "" "VUS" ""
"0000120632" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Klevering 2004:15494742}" "" "1622T>C; 3113C>T" "" "Germline" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000120633" "1" "50" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Klevering 2004:15494742}" "" "1622T>C; 3113C>T" "" "Germline" "" "" "0" "" "" "g.94043413G>A" "" "VUS" ""
"0000120634" "0" "50" "1" "94467548" "94467548" "subst" "0.00295661" "01695" "ABCA4_000788" "g.94467548C>G" "ExAC 334, 121350, 0, 0.002752" "{PMID:Klevering 2004:15494742}" "" "6148G>C" "" "Germline" "" "" "0" "" "" "g.94001992C>G" "" "VUS" ""
"0000120635" "0" "90" "1" "94577135" "94577135" "subst" "2.43718E-5" "01695" "ABCA4_000240" "g.94577135C>T" "ExAC 2, 121210, 0, 0.0000165" "{PMID:Zhang 1999:10612508}" "" "G-to-A transition of nucleotide 161" "" "Germline" "yes" "" "0" "" "" "g.94111579C>T" "" "pathogenic" ""
"0000120636" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "ExAC 601, 118484, 2, 0.005072" "{PMID:Zhang 1999:10612508}" "" "G-to-C transversion of nucleotide 2588" "" "Germline" "-" "rs76157638" "0" "" "" "g.94051698C>G" "" "pathogenic" ""
"0000120637" "0" "90" "1" "94577135" "94577135" "subst" "2.43718E-5" "01695" "ABCA4_000240" "g.94577135C>T" "ExAC 2, 121210, 0, 0.0000165" "{PMID:Zhang 1999:10612508}" "" "G-to-A transition of nucleotide 161" "" "Germline" "yes" "" "0" "" "" "g.94111579C>T" "" "pathogenic" ""
"0000120638" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "ExAC 601, 118484, 2, 0.005072" "{PMID:Zhang 1999:10612508}" "" "G-to-C transversion of nucleotide 2588" "" "Germline" "-" "rs76157638" "0" "" "" "g.94051698C>G" "" "pathogenic" ""
"0000120639" "0" "90" "1" "94577135" "94577135" "subst" "2.43718E-5" "01695" "ABCA4_000240" "g.94577135C>T" "ExAC 2, 121210, 0, 0.0000165" "{PMID:Zhang 1999:10612508}" "" "G-to-A transition of nucleotide 161" "" "Germline" "yes" "" "0" "" "" "g.94111579C>T" "" "pathogenic" ""
"0000120640" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "ExAC 601, 118484, 2, 0.005072" "{PMID:Zhang 1999:10612508}" "" "G-to-C transversion of nucleotide 2588" "" "Germline" "-" "rs76157638" "0" "" "" "g.94051698C>G" "" "pathogenic" ""
"0000120641" "0" "90" "1" "94577135" "94577135" "subst" "2.43718E-5" "01695" "ABCA4_000240" "g.94577135C>T" "ExAC 2, 121210, 0, 0.0000165" "{PMID:Zhang 1999:10612508}" "" "G-to-A transition of nucleotide 161" "" "Germline" "yes" "" "0" "" "" "g.94111579C>T" "" "pathogenic" ""
"0000120642" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "ExAC 601, 118484, 2, 0.005072" "{PMID:Zhang 1999:10612508}" "" "G-to-C transversion of nucleotide 2588" "" "Germline" "-" "rs76157638" "0" "" "" "g.94051698C>G" "" "pathogenic" ""
"0000120643" "0" "90" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "ExAC 14, 120056, 0, 0.0001166" "{PMID:Paloma 2001:11385708}" "" "R212C" "" "Germline" "?" "" "0" "" "" "g.94098928G>A" "" "pathogenic" ""
"0000120644" "0" "70" "1" "94508435" "94508436" "dup" "0" "01695" "ABCA4_000998" "g.94508435_94508436dup" "" "{PMID:Paloma 2001:11385708}" "" "c.3211-3212insGT" "" "Germline" "-" "" "0" "" "" "g.94042879_94042880dup" "" "likely pathogenic" ""
"0000120645" "0" "70" "1" "94496547" "94496547" "subst" "1.21904E-5" "01695" "ABCA4_000560" "g.94496547C>T" "" "{PMID:Paloma 2001:11385708}" "" "c.4253+5G>A" "" "Germline" "-" "" "0" "" "" "g.94030991C>T" "" "likely pathogenic" ""
"0000120646" "0" "90" "1" "94467517" "94467517" "subst" "0" "01695" "ABCA4_000786" "g.94467517A>C" "" "{PMID:Paloma 2001:11385708}" "" "c.6179T>G" "" "Germline" "?" "" "0" "" "" "g.94001961A>C" "" "pathogenic" ""
"0000120647" "0" "70" "1" "94496547" "94496547" "subst" "1.21904E-5" "01695" "ABCA4_000560" "g.94496547C>T" "" "{PMID:Paloma 2001:11385708}" "" "c.4253+5G>A" "" "Germline" "-" "" "0" "" "" "g.94030991C>T" "" "likely pathogenic" ""
"0000120648" "0" "90" "1" "94467517" "94467517" "subst" "0" "01695" "ABCA4_000786" "g.94467517A>C" "" "{PMID:Paloma 2001:11385708}" "" "c.6179T>G" "" "Germline" "?" "" "0" "" "" "g.94001961A>C" "" "pathogenic" ""
"0000120649" "3" "50" "1" "94568686" "94568686" "subst" "0.00258122" "01695" "ABCA4_000212" "g.94568686C>T" "" "{PMID:Paloma 2001:11385708}" "" "[R152Q (5); R2107H (46)]" "" "Germline" "?" "" "0" "" "" "g.94103130C>T" "" "VUS" ""
"0000120650" "3" "70" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Paloma 2001:11385708}" "" "[R152Q (5); R2107H (46)]" "" "Germline" "?" "" "0" "" "" "g.94001068C>T" "" "likely pathogenic" ""
"0000120651" "0" "50" "1" "94474323" "94474323" "subst" "2.03034E-5" "01695" "ABCA4_000156" "g.94474323A>G" "ExAC 1, 121410, 0, 0.000008237" "{PMID:Paloma 2001:11385708}" "" "L1940P" "" "Germline" "" "" "0" "" "" "g.94008767A>G" "" "VUS" ""
"0000120652" "0" "50" "1" "94480164" "94480164" "subst" "0" "01695" "ABCA4_000440" "g.94480164T>C" "" "{PMID:Paloma 2001:11385708}" "" "N1799D" "" "Germline" "" "" "0" "" "" "g.94014608T>C" "" "VUS" ""
"0000120653" "0" "50" "1" "94512507" "94512507" "del" "0" "01695" "ABCA4_000155" "g.94512507del" "" "{PMID:Paloma 2001:11385708}" "" "c.2888delG" "" "Germline" "" "" "0" "" "" "g.94046951del" "" "VUS" ""
"0000120654" "3" "90" "1" "94480146" "94480146" "subst" "2.84273E-5" "01695" "ABCA4_000122" "g.94480146T>C" "ExAC 2, 121410, 0, 0.00001647" "{PMID:Paloma 2001:11385708}" "" "N1805D" "" "Germline" "?" "" "0" "" "" "g.94014590T>C" "" "pathogenic" ""
"0000120655" "0" "70" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "ExAC 14, 121282, 0, 0.0001154" "{PMID:Paloma 2001:11385708}" "" "R1108C" "" "Germline" "" "" "0" "" "" "g.94042767G>A" "" "likely pathogenic" ""
"0000120656" "0" "70" "1" "94526196" "94526196" "subst" "0" "01695" "ABCA4_000757" "g.94526196A>G" "" "{PMID:Paloma 2001:11385708}" "" "L686S" "" "Germline" "?" "" "0" "" "" "g.94060640A>G" "" "likely pathogenic" ""
"0000120657" "0" "70" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "ExAC 14, 121282, 0, 0.0001154" "{PMID:Paloma 2001:11385708}" "" "R1108C" "" "Germline" "" "" "0" "" "" "g.94042767G>A" "" "likely pathogenic" ""
"0000120658" "0" "70" "1" "94526196" "94526196" "subst" "0" "01695" "ABCA4_000757" "g.94526196A>G" "" "{PMID:Paloma 2001:11385708}" "" "L686S" "" "Germline" "?" "" "0" "" "" "g.94060640A>G" "" "likely pathogenic" ""
"0000120659" "1" "70" "1" "94502756" "94502756" "subst" "0.000422575" "01695" "ABCA4_000032" "g.94502756G>A" "" "{PMID:Paloma 2001:11385708}" "" "[T1253L (25); G1961E (42)]" "" "Germline" "" "" "0" "" "" "g.94037200G>A" "" "likely pathogenic" ""
"0000120660" "1" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Paloma 2001:11385708}" "" "[T1253L (25); G1961E (42)]" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000120661" "0" "50" "1" "94474323" "94474323" "subst" "2.03034E-5" "01695" "ABCA4_000156" "g.94474323A>G" "ExAC 1, 121410, 0, 0.000008237" "{PMID:Paloma 2001:11385708}" "" "L1940P" "" "Germline" "" "" "0" "" "" "g.94008767A>G" "" "VUS" ""
"0000120662" "0" "50" "1" "94546234" "94546234" "subst" "0" "01695" "ABCA4_000351" "g.94546234G>T" "" "{PMID:Fishman 1999:10206579}" "" "Thr300Asn" "" "Germline" "" "" "0" "" "" "g.94080678G>T" "" "VUS" ""
"0000120663" "0" "50" "1" "94495078" "94495078" "subst" "8.37044E-6" "01695" "ABCA4_000042" "g.94495078A>G" "ExAC 1, 70400, 0, 0.0000142" "{PMID:Fishman 1999:10206579}" "" "Cys1488Arg" "" "Germline" "" "" "0" "" "" "g.94029522A>G" "" "VUS" ""
"0000120664" "0" "70" "1" "94466422" "94466422" "subst" "2.43651E-5" "01695" "ABCA4_000817" "g.94466422C>T" "ExAC 3, 121398, 0, 0.00002471" "{PMID:Fishman 1999:10206579}" "" "Cys2150Tyr" "" "Germline" "?" "" "0" "" "" "g.94000866C>T" "" "likely pathogenic" ""
"0000120665" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "ExAC 613, 121302, 4, 0.005054" "{PMID:Fishman 1999:10206579}" "" "Gly1961Glu" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000120666" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "ExAC 613, 121302, 4, 0.005054" "{PMID:Fishman 1999:10206579}, {PMID:Genead 2009:19578016}" "" "Gly1961Glu" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000120667" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "ExAC 613, 121302, 4, 0.005054" "{PMID:Fishman 1999:10206579}, {PMID:Genead 2009:19578016}" "" "Gly1961Glu" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000120668" "0" "70" "1" "94577102" "94577102" "subst" "4.06161E-6" "01695" "ABCA4_000033" "g.94577102C>T" "" "{PMID:Fishman 1999:10206579}, {PMID:Genead 2009:19578016}" "" "Gly65Glu" "" "Germline" "?" "" "0" "" "" "g.94111546C>T" "" "likely pathogenic" ""
"0000120669" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "ExAC 613, 121302, 4, 0.005054" "{PMID:Fishman 1999:10206579}, {PMID:Kang Derwent 2004:15223829}, {PMID:Genead 2009:19578016}" "" "Gly1961Glu" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000120670" "0" "70" "1" "94467467" "94467467" "subst" "4.06164E-6" "01695" "ABCA4_000780" "g.94467467G>A" "" "{PMID:Fishman 1999:10206579}, {PMID:Kang Derwent 2004:15223829}, {PMID:Genead 2009:19578016}" "" "Arg2077Trp" "" "Germline" "?" "" "0" "" "" "g.94001911G>A" "" "likely pathogenic" ""
"0000120671" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "ExAC 613, 121302, 4, 0.005054" "{PMID:Fishman 1999:10206579}, {PMID:Genead 2009:19578016}" "" "Gly1961Glu" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000120672" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "ExAC 613, 121302, 4, 0.005054" "{PMID:Fishman 1999:10206579}, {PMID:Genead 2009:19578016}" "" "Gly1961Glu" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000120673" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "ExAC 613, 121302, 4, 0.005054" "{PMID:Fishman 1999:10206579}, {PMID:Genead 2009:19578016}" "" "Gly1961Glu" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000120674" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "ExAC 613, 121302, 4, 0.005054" "{PMID:Fishman 1999:10206579}, {PMID:Genead 2009:19578016}" "" "Gly1961Glu" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000120675" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "ExAC 613, 121302, 4, 0.005054" "{PMID:Fishman 1999:10206579}, {PMID:Kang Derwent 2004:15223829}, {PMID:Genead 2009:19578016}" "" "Gly1961Glu" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000120676" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Fishman 1999:10206579}, {PMID:Kang Derwent 2004:15223829}, {PMID:Genead 2009:19578016}" "" "leu541pro/ala1038val,‡" "" "Germline" "?" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000120677" "1" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Fishman 1999:10206579}, {PMID:Kang Derwent 2004:15223829}, {PMID:Genead 2009:19578016}" "" "leu541pro/ala1038val,‡" "" "Germline" "?" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic" ""
"0000120678" "0" "70" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "ExAC 227, 121250, 3, 0.001872" "{PMID:Fishman 1999:10206579}" "" "Arg2107His" "" "Germline" "" "" "0" "" "" "g.94001068C>T" "" "likely pathogenic" ""
"0000120679" "0" "30" "1" "94485148" "94485148" "subst" "4.27562E-6" "01695" "ABCA4_000099" "g.94485148A>G" "" "{PMID:Fishman 1999:10206579}" "" "Leu1729Pro" "" "Germline" "?" "" "0" "" "" "g.94019592A>G" "" "likely benign" ""
"0000120680" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "ExAC 613, 121302, 4, 0.005054" "{PMID:Fishman 1999:10206579}" "" "1bp del (g) codon 448" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000120681" "0" "90" "1" "94481322" "94481330" "del" "0" "01695" "ABCA4_000453" "g.94481322_94481330del" "" "{PMID:Fishman 1999:10206579}" "" "9bp del codon 1760/1761" "" "Germline" "" "" "0" "" "" "g.94015766_94015774del" "" "pathogenic" ""
"0000120682" "0" "70" "1" "94495009" "94495009" "dup" "0" "01695" "ABCA4_000087" "g.94495009dup" "" "{PMID:Fishman 1999:10206579}" "" "1bp ins (c) codon 1513" "" "Germline" "?" "" "0" "" "" "g.94029453dup" "" "likely pathogenic" ""
"0000120683" "0" "90" "1" "94577117" "94577117" "subst" "1.62472E-5" "01695" "ABCA4_000237" "g.94577117G>A" "ExAC 1, 121292, 0, 0.000008245" "{PMID:Fishman 1999:10206579}, {PMID:Kang Derwent 2004:15223829}" "" "Ala60Val" "" "Germline" "" "" "0" "" "" "g.94111561G>A" "" "pathogenic" ""
"0000120684" "0" "70" "1" "94495009" "94495009" "dup" "0" "01695" "ABCA4_000087" "g.94495009dup" "" "{PMID:Fishman 1999:10206579}, {PMID:Kang Derwent 2004:15223829}" "" "1bp ins (c) codon 1513" "" "Germline" "?" "" "0" "" "" "g.94029453dup" "" "likely pathogenic" ""
"0000120685" "0" "50" "1" "94510299" "94510299" "subst" "4.06072E-6" "01695" "ABCA4_000674" "g.94510299A>G" "ExAC 1, 121404, 0, 0.000008237" "{PMID:Fishman 1999:10206579}" "" "Ser974Pro" "" "Germline" "" "" "0" "" "" "g.94044743A>G" "" "VUS" ""
"0000120686" "0" "50" "1" "94512510" "94512510" "del" "0" "01695" "ABCA4_000119" "g.94512510del" "" "{PMID:Fishman 1999:10206579}" "" "2884 del (c)" "" "Germline" "" "" "0" "" "" "g.94046954del" "" "VUS" ""
"0000120687" "0" "50" "1" "94512510" "94512510" "del" "0" "01695" "ABCA4_000119" "g.94512510del" "" "{PMID:Fishman 1999:10206579}" "" "5bp del, codon 505" "" "Germline" "" "" "0" "" "" "g.94046954del" "" "VUS" ""
"0000120688" "0" "50" "1" "94520708" "94520708" "subst" "0.00102774" "01695" "ABCA4_000074" "g.94520708A>G" "ExAC 162, 121382, 1, 0.001335" "{PMID:Fishman 1999:10206579}" "" "Val849Ala" "" "Germline" "" "" "0" "" "" "g.94055152A>G" "" "VUS" ""
"0000120689" "0" "30" "1" "94520708" "94520708" "subst" "0.00102774" "01695" "ABCA4_000074" "g.94520708A>G" "ExAC 162, 121382, 1, 0.001335" "{PMID:Fishman 1999:10206579}, {PMID:Kang Derwent 2004:15223829}" "" "Val849Ala" "" "Germline" "?" "" "0" "" "" "g.94055152A>G" "" "likely benign" ""
"0000120690" "0" "30" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "ExAC 227, 121250, 3, 0.001872" "{PMID:Fishman 1999:10206579}, {PMID:Kang Derwent 2004:15223829}" "" "Arg2107His" "" "Germline" "" "" "0" "" "" "g.94001068C>T" "" "likely benign" ""
"0000120691" "0" "50" "1" "94471056" "94471056" "subst" "2.84398E-5" "01695" "ABCA4_000050" "g.94471056G>A" "ExAC 3, 121402, 0, 0.00002471" "{PMID:Fishman 1999:10206579}" "" "Arg2030stop" "" "Germline" "" "" "0" "" "" "g.94005500G>A" "" "VUS" ""
"0000120692" "0" "50" "1" "94466561" "94466561" "subst" "8.12288E-6" "01695" "ABCA4_000834" "g.94466561T>C" "ExAC 1, 121390, 0, 0.000008238" "{PMID:Fishman 1999:10206579}" "" "His2128Arg" "" "Germline" "" "" "0" "" "" "g.94001005T>C" "" "VUS" ""
"0000120693" "0" "50" "1" "94471032" "94471032" "subst" "1.62553E-5" "01695" "ABCA4_000792" "g.94471032G>A" "ExAC 3, 121400, 0, 0.00002471" "{PMID:Fishman 1999:10206579}" "" "Arg2038Trp" "" "Germline" "" "" "0" "" "" "g.94005476G>A" "" "VUS" ""
"0000120694" "0" "50" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "ExAC 14, 121282, 0, 0.0001154" "{PMID:Fishman 1999:10206579}" "" "Arg1108Cys" "" "Germline" "" "" "0" "" "" "g.94042767G>A" "" "VUS" ""
"0000120695" "0" "70" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "ExAC 227, 121250, 3, 0.001872" "{PMID:Fishman 1999:10206579}" "" "Arg2107His" "" "Germline" "?" "" "0" "" "" "g.94001068C>T" "" "likely pathogenic" ""
"0000120696" "0" "30" "1" "94486860" "94486860" "subst" "0" "01695" "ABCA4_000153" "g.94486860A>C" "" "{PMID:Fishman 1999:10206579}" "" "Tyr1652Asp" "" "Germline" "" "" "0" "" "" "g.94021304A>C" "" "likely benign" ""
"0000120697" "0" "50" "1" "94505599" "94505599" "subst" "0" "01695" "ABCA4_000152" "g.94505599C>T" "" "{PMID:Fishman 1999:10206579}" "" "splice donor G>A, exon 24" "" "Germline" "" "" "0" "" "" "g.94040043C>T" "" "VUS" ""
"0000120698" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "ExAC 613, 121302, 4, 0.005054" "{PMID:Fishman 1999:10206579}, {PMID:Genead 2009:19578016}" "" "Gly1961Glu" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic" ""
"0000120699" "0" "70" "1" "94486950" "94486955" "delins" "0" "01695" "ABCA4_000192" "g.94486950_94486955delinsAGGA" "" "{PMID:Fishman 1999:10206579}, {PMID:Genead 2009:19578016}" "" "codons 1620-1622 ATAACAdelinsTCCT" "" "Germline" "?" "" "0" "" "" "g.94021394_94021399delinsAGGA" "" "likely pathogenic" ""
"0000120700" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Fishman 1999:10206579}" "" "Leu541Pro, Ala1038Val" "" "Germline" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000120701" "1" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Fishman 1999:10206579}" "" "Leu541Pro, Ala1038Val" "" "Germline" "" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic" ""
"0000120702" "0" "70" "1" "94495002" "94495002" "subst" "0" "01695" "ABCA4_000532" "g.94495002T>G" "" "{PMID:Fishman 1999:10206579}" "" "Donor splice site, exon 30" "" "Germline" "?" "" "0" "" "" "g.94029446T>G" "" "likely pathogenic" ""
"0000120703" "0" "70" "1" "94564500" "94564500" "subst" "0.00100414" "01695" "ABCA4_000069" "g.94564500G>C" "ExAC 162, 118200, 0, 0.001371" "{PMID:Fishman 1999:10206579}" "" "Ser206Arg" "" "Germline" "?" "" "0" "" "" "g.94098944G>C" "" "likely pathogenic" ""
"0000120704" "0" "30" "1" "94496582" "94496582" "subst" "0" "01695" "ABCA4_000089" "g.94496582C>A" "" "{PMID:Fishman 1999:10206579}" "" "Trp1408Leu" "" "Germline" "" "" "0" "" "" "g.94031026C>A" "" "likely benign" ""
"0000120705" "0" "50" "1" "94568687" "94568687" "subst" "1.62641E-5" "01695" "ABCA4_000024" "g.94568687G>A" "ExAC 1, 120844, 0, 0.000008275" "{PMID:Zhang 1999:10486215}" "" "C454T" "" "Germline" "" "" "0" "" "" "g.94103131G>A" "" "VUS" ""
"0000120706" "11" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Shroyer 2000:10746567}" "" "2588G>C, 2828G>A" "" "Germline" "" "rs76157638" "0" "" "" "g.94051698C>G" "" "likely pathogenic" ""
"0000120707" "11" "50" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Shroyer 2000:10746567}" "" "2588G>C, 2828G>A" "" "Germline" "" "rs76157638" "0" "" "" "g.94051698C>G" "" "VUS" ""
"0000120708" "21" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Shroyer 2000:10746567}" "" "2588G>C, 2828G>A" "" "Germline" "?" "rs76157638" "0" "" "" "g.94051698C>G" "" "pathogenic" ""
"0000120709" "0" "90" "1" "94514390" "94515419" "del" "0" "01695" "ABCA4_000698" "g.94514390_94515419del" "" "{PMID:Shroyer 2000:10746567}" "" "IVS17-905_IVS18+35de" "" "Germline" "" "" "0" "" "" "g.94048834_94049863del" "" "pathogenic" ""
"0000120710" "21" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Shroyer 2000:10746567}" "" "2588G>C, 2828G>A" "" "Germline" "" "rs76157638" "0" "" "" "g.94051698C>G" "" "pathogenic" ""
"0000120711" "0" "90" "1" "94514390" "94515419" "del" "0" "01695" "ABCA4_000698" "g.94514390_94515419del" "" "{PMID:Shroyer 2000:10746567}" "" "IVS17-905_IVS18+35de" "" "Germline" "?" "" "0" "" "" "g.94048834_94049863del" "" "pathogenic" ""
"0000120712" "11" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Shroyer 2000:10746567}" "" "2588G>C, 2828G>A" "" "Germline" "" "rs76157638" "0" "" "" "g.94051698C>G" "" "likely pathogenic" ""
"0000120713" "11" "70" "1" "94526316" "94526316" "subst" "4.25152E-6" "01695" "ABCA4_000118" "g.94526316C>T" "ExAC 1, 80740, 0, 0.00001239" "{PMID:Rozet 1999:10874631}" "" "1938-1 G>A" "" "Germline" "" "" "0" "" "" "g.94060760C>T" "" "likely pathogenic" ""
"0000120714" "11" "90" "1" "94526316" "94526316" "subst" "4.25152E-6" "01695" "ABCA4_000118" "g.94526316C>T" "ExAC 1, 80740, 0, 0.00001239" "{PMID:Rozet 1999:10874631}" "MseI+" "1938-1 G>A" "" "Germline" "yes" "" "0" "" "" "g.94060760C>T" "" "pathogenic" ""
"0000120715" "21" "90" "1" "94520667" "94544233" "del" "0" "01695" "ABCA4_000000" "g.(94520667_94544233)delN[?]" "" "{PMID:Rozet 1999:10874631}" "" "" "deletion with undefined borders" "Germline" "yes" "" "0" "" "" "g.(94055111_94078677)delN[?]" "" "pathogenic" ""
"0000120716" "0" "50" "1" "94463488" "94463488" "subst" "5.2803E-5" "01695" "ABCA4_000802" "g.94463488G>A" "ExAC 6, 121316, 0, 0.00004946" "{PMID:Maugeri 2000:10958761}" "" "6658C>T" "" "Germline" "" "" "0" "" "" "g.93997932G>A" "" "VUS" ""
"0000120717" "0" "90" "1" "94487251" "94487251" "subst" "2.85679E-5" "01695" "ABCA4_000490" "g.94487251G>T" "ExAC 3, 113672, 0, 0.00002639" "{PMID:Maugeri 2000:10958761}" "" "4793C>A" "" "Germline" "" "" "0" "" "" "g.94021695G>T" "" "pathogenic" ""
"0000120718" "0" "70" "1" "94466615" "94466615" "subst" "0" "01695" "ABCA4_000836" "g.94466615C>T" "" "{PMID:Maugeri 2000:10958761}" "" "6329G>A" "" "Germline" "?" "" "0" "" "" "g.94001059C>T" "" "likely pathogenic" ""
"0000120719" "0" "70" "1" "94496571" "94496571" "subst" "4.06174E-6" "01695" "ABCA4_000111" "g.94496571G>A" "" "{PMID:Rivera 2000:10958763}" "" "Q1412X" "" "Germline" "" "" "0" "" "" "g.94031015G>A" "" "likely pathogenic" ""
"0000120720" "0" "90" "1" "94467467" "94467467" "subst" "4.06164E-6" "01695" "ABCA4_000780" "g.94467467G>A" "" "{PMID:Rivera 2000:10958763}" "" "R2077W" "" "Germline" "yes" "" "0" "" "" "g.94001911G>A" "" "pathogenic" ""
"0000120721" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "ExAC 613, 121302, 4, 0.005054" "{PMID:Rivera 2000:10958763}" "" "G1961E" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000120722" "0" "70" "1" "94496571" "94496571" "subst" "4.06174E-6" "01695" "ABCA4_000111" "g.94496571G>A" "" "{PMID:Rivera 2000:10958763}" "" "G65E" "" "Germline" "-" "" "0" "" "" "g.94031015G>A" "" "likely pathogenic" ""
"0000120723" "3" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "ExAC 613, 121302, 4, 0.005054" "{PMID:Rivera 2000:10958763}" "" "G1961E" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000120724" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "ExAC 613, 121302, 4, 0.005054" "{PMID:Rivera 2000:10958763}" "" "G1961E" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000120725" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Rivera 2000:10958763}" "" "L541P-A1038V" "" "Germline" "-" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000120726" "1" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Rivera 2000:10958763}" "" "L541P-A1038V" "" "Germline" "-" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic" ""
"0000120727" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "ExAC 42, 120772, 0, 0.0003478" "{PMID:Rivera 2000:10958763}" "" "IVS40+5G>A" "" "Germline" "yes" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic" ""
"0000120728" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Rivera 2000:10958763}" "" "L541P-A1038V" "" "Germline" "-" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000120729" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Rivera 2000:10958763}" "" "L541P-A1038V" "" "Germline" "-" "" "0" "" "" "g.94043413G>A" "" "pathogenic" ""
"0000120730" "0" "90" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "ExAC 42, 120772, 0, 0.0003478" "{PMID:Rivera 2000:10958763}, {PMID:Gerth 2002:12192456}" "" "IVS40+5G>A" "" "Germline" "yes" "" "0" "" "" "g.94010795C>T" "" "pathogenic" ""
"0000120731" "0" "90" "1" "94546047" "94546047" "subst" "0" "01695" "ABCA4_000150" "g.94546047A>T" "" "{PMID:Rivera 2000:10958763}, {PMID:Gerth 2002:12192456}" "" "Y362X" "" "Germline" "-" "" "0" "" "" "g.94080491A>T" "" "pathogenic" ""
"0000120732" "0" "70" "1" "94520690" "94520690" "subst" "2.03102E-5" "01695" "ABCA4_000149" "g.94520690C>T" "ExAC 4, 121342, 0, 0.00003296" "{PMID:Rivera 2000:10958763}, {PMID:Gerth 2002:12192456}" "" "W855X" "" "Germline" "yes" "" "0" "" "" "g.94055134C>T" "" "likely pathogenic" ""
"0000120733" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Rivera 2000:10958763}, {PMID:Gerth 2002:12192456}" "" "L541P-A1038V" "" "Germline" "-" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000120734" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Rivera 2000:10958763}, {PMID:Gerth 2002:12192456}" "" "L541P-A1038V" "" "Germline" "-" "" "0" "" "" "g.94043413G>A" "" "pathogenic" ""
"0000120735" "3" "90" "1" "94473278" "94473278" "del" "3.25908E-5" "01695" "ABCA4_000392" "g.94473278del" "" "{PMID:Rivera 2000:10958763}, {PMID:Gerth 2002:12192456}" "" "5917delG" "" "Germline" "yes" "" "0" "" "" "g.94007722del" "" "pathogenic" ""
"0000120736" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "ExAC 613, 121302, 4, 0.005054" "{PMID:Rivera 2000:10958763}, {PMID:Gerth 2002:12192456}" "" "G1961E" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "pathogenic" ""
"0000120737" "0" "70" "1" "94473278" "94473278" "del" "3.25908E-5" "01695" "ABCA4_000392" "g.94473278del" "" "{PMID:Rivera 2000:10958763}, {PMID:Gerth 2002:12192456}" "" "5917delG" "" "Germline" "-" "" "0" "" "" "g.94007722del" "" "likely pathogenic" ""
"0000120738" "21" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "ExAC 42, 120772, 0, 0.0003478" "{PMID:Rivera 2000:10958763}, {PMID:Gerth 2002:12192456}" "" "IVS40+5G>A" "" "Germline" "yes" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic" ""
"0000120739" "11" "90" "1" "94495077" "94495077" "subst" "0" "01695" "ABCA4_000184" "g.94495077C>T" "" "{PMID:Rivera 2000:10958763}, {PMID:Gerth 2002:12192456}" "" "C1488Y" "" "Germline" "-" "" "0" "" "" "g.94029521C>T" "" "pathogenic" ""
"0000120740" "0" "90" "1" "94476377" "94476377" "subst" "0.00160473" "01695" "ABCA4_000411" "g.94476377C>T" "ExAC 216, 121058, 1, 0.001784" "{PMID:Rivera 2000:10958763}" "" "R1898H" "On its own not significantely found more often in published STGD compared to ExAC (p-value 0.39). However, together with other non-significant variants published related to STGD, they are significantly more often in STGD patients (p-value <0.01)." "Germline" "?" "" "0" "" "" "g.94010821C>T" "" "pathogenic" ""
"0000120741" "0" "30" "1" "94526212" "94526212" "subst" "1.22012E-5" "01695" "ABCA4_000075" "g.94526212G>A" "ExAC 3, 120836, 0, 0.00002483" "{PMID:Rivera 2000:10958763}" "" "R861X" "" "Germline" "-" "" "0" "" "" "g.94060656G>A" "" "likely benign" ""
"0000120742" "3" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Rivera 2000:10958763}" "" "L541P-A1038V" "" "Germline" "yes" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000120743" "3" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Rivera 2000:10958763}" "" "L541P-A1038V" "" "Germline" "yes" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic" ""
"0000120744" "0" "90" "1" "94528132" "94528132" "subst" "4.06835E-6" "01695" "ABCA4_000773" "g.94528132C>T" "ExAC 1, 120972, 0, 0.000008266" "{PMID:Rivera 2000:10958763}, {PMID:Gerth 2002:12192456}" "" "IVS13+1G>A" "" "Germline" "-" "" "0" "" "" "g.94062576C>T" "" "pathogenic" ""
"0000120745" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "ExAC 601, 118484, 2, 0.005072" "{PMID:Rivera 2000:10958763}, {PMID:Gerth 2002:12192456}" "" "2588G>C" "" "Germline" "yes" "rs76157638" "0" "" "" "g.94051698C>G" "" "pathogenic" ""
"0000120746" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "ExAC 173, 121304, 0, 0.001426" "{PMID:Rivera 2000:10958763}, {PMID:Gerth 2002:12192456}" "" "A1038V" "" "Germline" "?" "" "0" "" "" "g.94043413G>A" "" "pathogenic" ""
"0000120747" "0" "30" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "ExAC 601, 118484, 2, 0.005072" "{PMID:Rivera 2000:10958763}, {PMID:Gerth 2002:12192456}" "" "2588G>C" "" "Germline" "-" "rs76157638" "0" "" "" "g.94051698C>G" "" "likely benign" ""
"0000120748" "0" "90" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "ExAC 42, 120772, 0, 0.0003478" "{PMID:Rivera 2000:10958763}" "" "IVS40+5G>A" "" "Germline" "?" "" "0" "" "" "g.94010795C>T" "" "pathogenic" ""
"0000120749" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "ExAC 601, 118484, 2, 0.005072" "{PMID:Rivera 2000:10958763}" "" "2588G>C" "" "Germline" "-" "rs76157638" "0" "" "" "g.94051698C>G" "" "pathogenic" ""
"0000120750" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Rivera 2000:10958763}" "" "L541P-A1038V" "" "Germline" "-" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000120751" "1" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Rivera 2000:10958763}" "" "L541P-A1038V" "" "Germline" "-" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic" ""
"0000120752" "0" "70" "1" "94508895" "94508895" "subst" "0" "01695" "ABCA4_000652" "g.94508895A>G" "" "{PMID:Rivera 2000:10958763}" "" "S1063P" "" "Germline" "yes" "" "0" "" "" "g.94043339A>G" "" "likely pathogenic" ""
"0000120753" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "ExAC 601, 118484, 2, 0.005072" "{PMID:Rivera 2000:10958763}" "" "2588G>C" "" "Germline" "-" "rs76157638" "0" "" "" "g.94051698C>G" "" "pathogenic" ""
"0000120754" "0" "70" "1" "94481359" "94481359" "subst" "0" "01695" "ABCA4_000456" "g.94481359G>A" "" "{PMID:Rivera 2000:10958763}" "" "Q1750X" "" "Germline" "yes" "" "0" "" "" "g.94015803G>A" "" "likely pathogenic" ""
"0000120755" "0" "70" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "ExAC 14, 120056, 0, 0.0001166" "{PMID:Rivera 2000:10958763}" "" "R212C" "" "Germline" "-" "" "0" "" "" "g.94098928G>A" "" "likely pathogenic" ""
"0000120756" "0" "70" "1" "94512517" "94512517" "subst" "0" "01695" "ABCA4_000686" "g.94512517G>A" "" "{PMID:Rivera 2000:10958763}" "" "T959I" "" "Germline" "yes" "" "0" "" "" "g.94046961G>A" "" "likely pathogenic" ""
"0000120757" "1" "70" "1" "94528713" "94528713" "subst" "4.87381E-5" "01695" "ABCA4_000072" "g.94528713C>T" "" "{PMID:Rivera 2000:10958763}" "" "R572Q-2588G>C" "" "Germline" "-" "" "0" "" "" "g.94063157C>T" "" "likely pathogenic" ""
"0000120758" "1" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Rivera 2000:10958763}" "" "R572Q-2588G>C" "" "Germline" "-" "rs76157638" "0" "" "" "g.94051698C>G" "" "pathogenic" ""
"0000120759" "0" "90" "1" "94486794" "94486794" "subst" "0" "01695" "ABCA4_000479" "g.94486794A>T" "" "{PMID:Rivera 2000:10958763}" "" "IVS35+2T>A" "" "Germline" "yes" "" "0" "" "" "g.94021238A>T" "" "pathogenic" ""
"0000120760" "0" "90" "1" "94522248" "94522248" "subst" "0" "01695" "ABCA4_000741" "g.94522248C>T" "" "{PMID:Rivera 2000:10958763}, {PMID:Gerth 2002:12192456}" "" "C764Y" "" "Germline" "-" "" "0" "" "" "g.94056692C>T" "" "pathogenic" ""
"0000120761" "0" "70" "1" "94505674" "94505677" "dup" "0" "01695" "ABCA4_000609" "g.94505674_94505677dup" "" "{PMID:Rivera 2000:10958763}, {PMID:Gerth 2002:12192456}" "" "3528ins4" "" "Germline" "yes" "" "0" "" "" "g.94040118_94040121dup" "" "likely pathogenic" ""
"0000120762" "3" "70" "1" "94496047" "94496047" "subst" "0" "01695" "ABCA4_000554" "g.94496047A>G" "" "{PMID:Rivera 2000:10958763}" "" "L1430P" "" "Germline" "?" "" "0" "" "" "g.94030491A>G" "" "likely pathogenic" ""
"0000120763" "0" "90" "1" "94497564" "94497564" "subst" "1.64383E-5" "01695" "ABCA4_000091" "g.94497564G>A" "ExAC 4, 118564, 0, 0.00003374" "{PMID:Rivera 2000:10958763}" "" "R1300X" "" "Germline" "-" "" "0" "" "" "g.94032008G>A" "" "pathogenic" ""
"0000120764" "0" "90" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "ExAC 42, 120772, 0, 0.0003478" "{PMID:Rivera 2000:10958763}" "" "IVS40+5G>A" "" "Germline" "yes" "" "0" "" "" "g.94010795C>T" "" "pathogenic" ""
"0000120765" "0" "70" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "ExAC 14, 121282, 0, 0.0001154" "{PMID:Rivera 2000:10958763}" "" "R1108C" "" "Germline" "-" "" "0" "" "" "g.94042767G>A" "" "likely pathogenic" ""
"0000120766" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "ExAC 613, 121302, 4, 0.005054" "{PMID:Rivera 2000:10958763}" "" "G1961E" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000120767" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "ExAC 14, 121282, 0, 0.0001154" "{PMID:Rivera 2000:10958763}" "" "R1108C" "" "Germline" "-" "" "0" "" "" "g.94042767G>A" "" "pathogenic" ""
"0000120768" "0" "70" "1" "94496571" "94496571" "subst" "4.06174E-6" "01695" "ABCA4_000111" "g.94496571G>A" "" "{PMID:Rivera 2000:10958763}" "" "Q1412X" "" "Germline" "yes" "" "0" "" "" "g.94031015G>A" "" "likely pathogenic" ""
"0000120769" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "ExAC 613, 121302, 4, 0.005054" "{PMID:Rivera 2000:10958763}" "" "G1961E" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000120770" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Rivera 2000:10958763}" "" "L541P-A1038V" "" "Germline" "-" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000120771" "1" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Rivera 2000:10958763}" "" "L541P-A1038V" "" "Germline" "-" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic" ""
"0000120772" "0" "70" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "ExAC 13, 121216, 0, 0.0001072" "{PMID:Rivera 2000:10958763}" "" "G768T" "" "Germline" "-" "" "0" "" "" "g.94098794C>A" "" "likely pathogenic" ""
"0000120773" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "ExAC 613, 121302, 4, 0.005054" "{PMID:Rivera 2000:10958763}" "" "G1961E" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "pathogenic" ""
"0000120774" "0" "70" "1" "94496008" "94496008" "subst" "2.03056E-5" "01695" "ABCA4_000148" "g.94496008C>T" "ExAC 3, 121360, 0, 0.00002472" "{PMID:Rivera 2000:10958763}" "" "R1443H" "" "Germline" "?" "" "0" "" "" "g.94030452C>T" "" "likely pathogenic" ""
"0000120775" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Rivera 2000:10958763}" "" "L541P-A1038V" "" "Germline" "-" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000120776" "1" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Rivera 2000:10958763}" "" "L541P-A1038V" "" "Germline" "-" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic" ""
"0000120777" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "ExAC 601, 118484, 2, 0.005072" "{PMID:Rivera 2000:10958763}" "" "2588G>C" "" "Germline" "-" "rs76157638" "0" "" "" "g.94051698C>G" "" "likely pathogenic" ""
"0000120778" "0" "90" "1" "94476417" "94476417" "subst" "0" "01695" "ABCA4_000416" "g.94476417C>T" "" "{PMID:Rivera 2000:10958763}" "" "E1885K" "" "Germline" "yes" "" "0" "" "" "g.94010861C>T" "" "pathogenic" ""
"0000120779" "0" "70" "1" "94496610" "94496610" "subst" "2.03128E-5" "01695" "ABCA4_000571" "g.94496610C>T" "ExAC 2, 120596, 0, 0.00001658" "{PMID:Rivera 2000:10958763}" "" "E1399K" "" "Germline" "-" "" "0" "" "" "g.94031054C>T" "" "likely pathogenic" ""
"0000120780" "0" "70" "1" "94476417" "94476417" "subst" "0" "01695" "ABCA4_000416" "g.94476417C>T" "" "{PMID:Rivera 2000:10958763}" "" "G1977S" "" "Germline" "yes" "" "0" "" "" "g.94010861C>T" "" "likely pathogenic" ""
"0000120781" "0" "70" "1" "94473266" "94473266" "subst" "8.14677E-6" "01695" "ABCA4_000389" "g.94473266C>T" "ExAC 1, 120422, 0, 0.000008304" "{PMID:Rivera 2000:10958763}" "" "G1977S" "" "Germline" "yes" "" "0" "" "" "g.94007710C>T" "" "likely pathogenic" ""
"0000120782" "0" "70" "1" "94496610" "94496610" "subst" "2.03128E-5" "01695" "ABCA4_000571" "g.94496610C>T" "ExAC 2, 120596, 0, 0.00001658" "{PMID:Rivera 2000:10958763}" "" "E1399K" "" "Germline" "-" "" "0" "" "" "g.94031054C>T" "" "likely pathogenic" ""
"0000120783" "0" "70" "1" "94476377" "94476377" "subst" "0.00160473" "01695" "ABCA4_000411" "g.94476377C>T" "ExAC 216, 121058, 1, 0.001784" "{PMID:Rivera 2000:10958763}" "" "R1898H" "On its own not significantely found more often in published STGD compared to ExAC (p-value 0.39). However, together with other non-significant variants published related to STGD, they are significantly more often in STGD patients (p-value <0.01)." "Germline" "-" "" "0" "" "" "g.94010821C>T" "" "likely pathogenic" ""
"0000120784" "0" "30" "1" "94473272" "94473272" "subst" "0" "01695" "ABCA4_000390" "g.94473272C>G" "" "{PMID:Rivera 2000:10958763}" "" "G1975R" "" "Germline" "?" "" "0" "" "" "g.94007716C>G" "" "likely benign" ""
"0000120785" "0" "70" "1" "94485269" "94485269" "subst" "0" "01695" "ABCA4_000146" "g.94485269A>G" "ExAC 1, 108050, 0, 0.000009255" "{PMID:Rivera 2000:10958763}" "" "S1689P" "" "Germline" "yes" "" "0" "" "" "g.94019713A>G" "" "likely pathogenic" ""
"0000120786" "0" "70" "1" "94577093" "94577093" "subst" "8.12394E-6" "01695" "ABCA4_000147" "g.94577093G>A" "ExAC 2, 121276, 0, 0.00001649" "{PMID:Rivera 2000:10958763}" "" "P68L" "" "Germline" "-" "" "0" "" "" "g.94111537G>A" "" "likely pathogenic" ""
"0000120787" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "ExAC 42, 120772, 0, 0.0003478" "{PMID:Rivera 2000:10958763}" "" "IVS40+5G>A" "" "Germline" "yes" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic" ""
"0000120788" "0" "90" "1" "94528167" "94528167" "subst" "0" "01695" "ABCA4_000145" "g.94528167G>T" "" "{PMID:Rivera 2000:10958763}" "" "Q635K" "" "Germline" "-" "" "0" "" "" "g.94062611G>T" "" "pathogenic" ""
"0000120789" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "ExAC 613, 121302, 4, 0.005054" "{PMID:Rivera 2000:10958763}" "" "G1961E" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "pathogenic" ""
"0000120790" "0" "70" "1" "94522246" "94522247" "delins" "0" "01695" "ABCA4_000187" "g.94522246_94522247delinsG" "" "{PMID:Rivera 2000:10958763}" "" "2292delT-S765R" "" "Germline" "-" "" "0" "" "" "g.94056690_94056691delinsG" "" "likely pathogenic" ""
"0000120791" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "ExAC 613, 121302, 4, 0.005054" "{PMID:Rivera 2000:10958763}, {PMID:Gerth 2002:12192456}" "" "G1961E" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "pathogenic" ""
"0000120792" "0" "70" "1" "94463537" "94463537" "subst" "0" "01695" "ABCA4_000803" "g.94463537G>T" "" "{PMID:Rivera 2000:10958763}, {PMID:Gerth 2002:12192456}" "" "Y2203X" "" "Germline" "yes" "" "0" "" "" "g.93997981G>T" "" "likely pathogenic" ""
"0000120793" "0" "90" "1" "94528132" "94528132" "subst" "4.06835E-6" "01695" "ABCA4_000773" "g.94528132C>T" "ExAC 1, 120972, 0, 0.000008266" "{PMID:Rivera 2000:10958763}" "" "IVS13+1G>A" "" "Germline" "-" "" "0" "" "" "g.94062576C>T" "" "pathogenic" ""
"0000120794" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "ExAC 601, 118484, 2, 0.005072" "{PMID:Rivera 2000:10958763}" "" "2588G>C" "" "Germline" "yes" "rs76157638" "0" "" "" "g.94051698C>G" "" "pathogenic" ""
"0000120795" "0" "70" "1" "94526212" "94526212" "subst" "1.22012E-5" "01695" "ABCA4_000075" "g.94526212G>A" "ExAC 3, 120836, 0, 0.00002483" "{PMID:Rivera 2000:10958763}" "" "R681X" "" "Germline" "-" "" "0" "" "" "g.94060656G>A" "" "likely pathogenic" ""
"0000120796" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "ExAC 613, 121302, 4, 0.005054" "{PMID:Rivera 2000:10958763}" "" "G1961E" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "pathogenic" ""
"0000120797" "0" "70" "1" "94476377" "94476377" "subst" "0.00160473" "01695" "ABCA4_000411" "g.94476377C>T" "ExAC 216, 121058, 1, 0.001784" "{PMID:Rivera 2000:10958763}" "" "R1898H" "On its own not significantely found more often in published STGD compared to ExAC (p-value 0.39). However, together with other non-significant variants published related to STGD, they are significantly more often in STGD patients (p-value <0.01)." "Germline" "?" "" "0" "" "" "g.94010821C>T" "" "likely pathogenic" ""
"0000120798" "0" "30" "1" "94577118" "94577118" "subst" "0" "01695" "ABCA4_000185" "g.94577118C>T" "" "{PMID:Rivera 2000:10958763}" "" "A60T" "" "Germline" "-" "" "0" "" "" "g.94111562C>T" "" "likely benign" ""
"0000120799" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "ExAC 613, 121302, 4, 0.005054" "{PMID:Rivera 2000:10958763}" "" "G1961E" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "pathogenic" ""
"0000120800" "0" "70" "1" "94577001" "94577001" "dup" "0" "01695" "ABCA4_000179" "g.94577001dup" "" "{PMID:Rivera 2000:10958763}" "" "296insA" "" "Germline" "-" "" "0" "" "" "g.94111445dup" "" "likely pathogenic" ""
"0000120801" "0" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "ExAC 173, 121304, 0, 0.001426" "{PMID:Rivera 2000:10958763}" "" "A1038V" "" "Germline" "?" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic" ""
"0000120802" "1" "30" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Rivera 2000:10958763}" "" "L541P-A1038V" "" "Germline" "-" "" "0" "" "" "g.94063250A>G" "" "likely benign" ""
"0000120803" "1" "30" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Rivera 2000:10958763}" "" "L541P-A1038V" "" "Germline" "-" "" "0" "" "" "g.94043413G>A" "" "likely benign" ""
"0000120804" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "ExAC 601, 118484, 2, 0.005072" "{PMID:Rivera 2000:10958763}, {PMID:Gerth 2002:12192456}" "" "2588G>C" "" "Germline" "yes" "rs76157638" "0" "" "" "g.94051698C>G" "" "likely pathogenic" ""
"0000120805" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Rivera 2000:10958763}, {PMID:Gerth 2002:12192456}" "" "L541P-A1038V" "" "Germline" "-" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000120806" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Rivera 2000:10958763}, {PMID:Gerth 2002:12192456}" "" "L541P-A1038V" "" "Germline" "-" "" "0" "" "" "g.94043413G>A" "" "pathogenic" ""
"0000120807" "0" "70" "1" "94510164" "94510164" "subst" "1.62441E-5" "01695" "ABCA4_000144" "g.94510164C>T" "ExAC 2, 121386, 0, 0.00001648" "{PMID:Rivera 2000:10958763}" "" "IVS20+5G>A" "" "Germline" "-" "" "0" "" "" "g.94044608C>T" "" "likely pathogenic" ""
"0000120808" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "ExAC 613, 121302, 4, 0.005054" "{PMID:Rivera 2000:10958763}" "" "G1961E" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "pathogenic" ""
"0000120809" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "ExAC 613, 121302, 4, 0.005054" "{PMID:Rivera 2000:10958763}" "" "G1961E" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000120810" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Rivera 2000:10958763}" "" "L541P-A1038V" "" "Germline" "-" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000120811" "1" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Rivera 2000:10958763}" "" "L541P-A1038V" "" "Germline" "-" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic" ""
"0000120812" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "ExAC 613, 121302, 4, 0.005054" "{PMID:Rivera 2000:10958763}" "" "G1961E" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000120813" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Rivera 2000:10958763}" "" "L541P-A1038V" "" "Germline" "-" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000120814" "1" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Rivera 2000:10958763}" "" "L541P-A1038V" "" "Germline" "-" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic" ""
"0000120815" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "ExAC 613, 121302, 4, 0.005054" "{PMID:Rivera 2000:10958763}" "" "G1961E" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "pathogenic" ""
"0000120816" "0" "70" "1" "94526265" "94526265" "subst" "0" "01695" "ABCA4_000143" "g.94526265C>T" "" "{PMID:Rivera 2000:10958763}" "" "W663X" "" "Germline" "-" "" "0" "" "" "g.94060709C>T" "" "likely pathogenic" ""
"0000120817" "0" "70" "1" "94510164" "94510164" "subst" "1.62441E-5" "01695" "ABCA4_000144" "g.94510164C>T" "ExAC 2, 121386, 0, 0.00001648" "{PMID:Rivera 2000:10958763}" "" "IVS20+5G>A" "" "Germline" "-" "" "0" "" "" "g.94044608C>T" "" "likely pathogenic" ""
"0000120818" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "ExAC 613, 121302, 4, 0.005054" "{PMID:Rivera 2000:10958763}" "" "G1961E" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "pathogenic" ""
"0000120819" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "ExAC 613, 121302, 4, 0.005054" "{PMID:Rivera 2000:10958763}" "" "G1961E" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000120820" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Rivera 2000:10958763}" "" "L541P-A1038V" "" "Germline" "-" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000120821" "1" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Rivera 2000:10958763}" "" "L541P-A1038V" "" "Germline" "-" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic" ""
"0000120822" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "ExAC 613, 121302, 4, 0.005054" "{PMID:Rivera 2000:10958763}" "" "G1961E" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000120823" "0" "70" "1" "94528251" "94528251" "subst" "0" "01695" "ABCA4_000282" "g.94528251C>K" "" "{PMID:Rivera 2000:10958763}" "" "G607R" "Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message." "Germline" "-" "" "0" "" "" "g.94062695C>K" "" "likely pathogenic" ""
"0000120824" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "ExAC 173, 121304, 0, 0.001426" "{PMID:Rivera 2000:10958763}" "" "A1038V" "" "Germline" "yes" "" "0" "" "" "g.94043413G>A" "" "pathogenic" ""
"0000120825" "0" "30" "1" "94577001" "94577001" "dup" "0" "01695" "ABCA4_000179" "g.94577001dup" "" "{PMID:Rivera 2000:10958763}" "" "296insA" "" "Germline" "-" "" "0" "" "" "g.94111445dup" "" "likely benign" ""
"0000120826" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "ExAC 601, 118484, 2, 0.005072" "{PMID:Rivera 2000:10958763}" "" "2588G>C" "" "Germline" "-" "rs76157638" "0" "" "" "g.94051698C>G" "" "pathogenic" ""
"0000120827" "0" "90" "1" "94496571" "94496571" "subst" "4.06174E-6" "01695" "ABCA4_000111" "g.94496571G>A" "" "{PMID:Rivera 2000:10958763}" "" "Q1412X" "" "Germline" "yes" "" "0" "" "" "g.94031015G>A" "" "pathogenic" ""
"0000120828" "0" "90" "1" "94510164" "94510164" "subst" "1.62441E-5" "01695" "ABCA4_000144" "g.94510164C>T" "ExAC 2, 121386, 0, 0.00001648" "{PMID:Rivera 2000:10958763}" "" "IVS20+5G>A" "" "Germline" "yes" "" "0" "" "" "g.94044608C>T" "" "pathogenic" ""
"0000120829" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "ExAC 601, 118484, 2, 0.005072" "{PMID:Rivera 2000:10958763}" "" "2588G>C" "" "Germline" "-" "rs76157638" "0" "" "" "g.94051698C>G" "" "pathogenic" ""
"0000120830" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "ExAC 613, 121302, 4, 0.005054" "{PMID:Rivera 2000:10958763}" "" "G1961E" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000120831" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Rivera 2000:10958763}" "" "L541P-A1038V" "" "Germline" "-" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000120832" "1" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Rivera 2000:10958763}" "" "L541P-A1038V" "" "Germline" "-" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic" ""
"0000120833" "0" "70" "1" "94543389" "94543389" "subst" "0.000861235" "01695" "ABCA4_000312" "g.94543389C>T" "ExAC 114, 121404, 0, 0.000939" "{PMID:Rivera 2000:10958763}" "" "E471K" "" "Germline" "-" "" "0" "" "" "g.94077833C>T" "" "likely pathogenic" ""
"0000120834" "0" "30" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "ExAC 613, 121302, 4, 0.005054" "{PMID:Rivera 2000:10958763}" "" "G1961E" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "likely benign" ""
"0000120835" "0" "70" "1" "94496610" "94496610" "subst" "2.03128E-5" "01695" "ABCA4_000571" "g.94496610C>T" "ExAC 2, 120596, 0, 0.00001658" "{PMID:Rivera 2000:10958763}" "" "E1399K" "" "Germline" "-" "" "0" "" "" "g.94031054C>T" "" "likely pathogenic" ""
"0000120836" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "ExAC 613, 121302, 4, 0.005054" "{PMID:Rivera 2000:10958763}" "" "G1961E" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000120837" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "ExAC 601, 118484, 2, 0.005072" "{PMID:Rivera 2000:10958763}" "" "2588G>C" "" "Germline" "?" "rs76157638" "0" "" "" "g.94051698C>G" "" "likely pathogenic" ""
"0000120838" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Rivera 2000:10958763}" "" "L541P-A1038V" "" "Germline" "-" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000120839" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Rivera 2000:10958763}" "" "L541P-A1038V" "" "Germline" "-" "" "0" "" "" "g.94043413G>A" "" "pathogenic" ""
"0000120840" "0" "70" "1" "94481365" "94481365" "subst" "4.06636E-5" "01695" "ABCA4_000457" "g.94481365C>T" "ExAC 4, 116496, 0, 0.00003434" "{PMID:Rivera 2000:10958763}" "" "G1748R" "On its own not significantely found more often in published STGD compared to ExAC (p-value 0.20). However, together with other non-significant variants published related to STGD, they are significantly more often in STGD patients (p-value <0.01)." "Germline" "yes" "" "0" "" "" "g.94015809C>T" "" "likely pathogenic" ""
"0000120841" "0" "70" "1" "94496018" "94496018" "subst" "0" "01695" "ABCA4_001002" "g.94496018A>C" "" "{PMID:Rivera 2000:10958763}" "" "F1440V" "" "Germline" "-" "" "0" "" "" "g.94030462A>C" "" "likely pathogenic" ""
"0000120842" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "ExAC 613, 121302, 4, 0.005054" "{PMID:Rivera 2000:10958763}" "" "G1961E" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000120843" "0" "70" "1" "94564430" "94564430" "subst" "0" "01695" "ABCA4_000376" "g.94564430A>T" "" "{PMID:Rivera 2000:10958763}" "" "C230S" "" "Germline" "-" "" "0" "" "" "g.94098874A>T" "" "likely pathogenic" ""
"0000120844" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "ExAC 601, 118484, 2, 0.005072" "{PMID:Rivera 2000:10958763}" "" "2588G>C" "" "Germline" "-" "rs76157638" "0" "" "" "g.94051698C>G" "" "likely pathogenic" ""
"0000120845" "0" "90" "1" "94485220" "94485220" "subst" "4.08938E-6" "01695" "ABCA4_000470" "g.94485220C>A" "" "{PMID:Rivera 2000:10958763}" "" "R1705L" "" "Germline" "yes" "" "0" "" "" "g.94019664C>A" "" "pathogenic" ""
"0000120846" "0" "90" "1" "94508353" "94508353" "subst" "2.8431E-5" "01695" "ABCA4_000141" "g.94508353G>A" "ExAC 4, 121358, 0, 0.00003296" "{PMID:Rivera 2000:10958763}, {PMID:Gerth 2002:12192456}" "" "R1097C" "" "Germline" "-" "" "0" "" "" "g.94042797G>A" "" "pathogenic" ""
"0000120847" "0" "70" "1" "94463537" "94463537" "subst" "0" "01695" "ABCA4_000803" "g.94463537G>T" "" "{PMID:Rivera 2000:10958763}, {PMID:Gerth 2002:12192456}" "" "Y2203X" "" "Germline" "yes" "" "0" "" "" "g.93997981G>T" "" "likely pathogenic" ""
"0000120848" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "ExAC 601, 118484, 2, 0.005072" "{PMID:Rivera 2000:10958763}" "" "2588G>C" "" "Germline" "yes" "rs76157638" "0" "" "" "g.94051698C>G" "" "likely pathogenic" ""
"0000120849" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Rivera 2000:10958763}" "" "L541P-A1038V" "" "Germline" "-" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000120850" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Rivera 2000:10958763}" "" "L541P-A1038V" "" "Germline" "-" "" "0" "" "" "g.94043413G>A" "" "pathogenic" ""
"0000120851" "0" "50" "1" "94577117" "94577117" "subst" "1.62472E-5" "01695" "ABCA4_000237" "g.94577117G>A" "ExAC 1, 121292, 0, 0.000008245" "{PMID:Rivera 2000:10958763}" "" "A60E" "" "Germline" "" "" "0" "" "" "g.94111561G>A" "" "VUS" ""
"0000120852" "0" "50" "1" "94577082" "94577082" "subst" "2.84315E-5" "01695" "ABCA4_000232" "g.94577082C>T" "ExAC 3, 121252, 0, 0.00002474" "{PMID:Rivera 2000:10958763}" "" "G72R" "" "Germline" "" "" "0" "" "" "g.94111526C>T" "" "VUS" ""
"0000120853" "0" "50" "1" "94568687" "94568687" "subst" "1.62641E-5" "01695" "ABCA4_000024" "g.94568687G>A" "ExAC 1, 120844, 0, 0.000008275" "{PMID:Rivera 2000:10958763}" "" "R152X" "" "Germline" "" "" "0" "" "" "g.94103131G>A" "" "VUS" ""
"0000120854" "0" "50" "1" "94564389" "94564390" "del" "0" "01695" "ABCA4_000373" "g.94564389_94564390del" "" "{PMID:Rivera 2000:10958763}" "" "730delCT" "" "Germline" "" "" "0" "" "" "g.94098833_94098834del" "" "VUS" ""
"0000120855" "0" "50" "1" "94564378" "94564378" "subst" "8.12222E-6" "01695" "ABCA4_000367" "g.94564378T>C" "" "{PMID:Rivera 2000:10958763}" "" "N247S" "" "Germline" "" "" "0" "" "" "g.94098822T>C" "" "VUS" ""
"0000120856" "0" "50" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "ExAC 13, 121216, 0, 0.0001072" "{PMID:Rivera 2000:10958763}" "" "768G>T" "" "Germline" "" "" "0" "" "" "g.94098794C>A" "" "VUS" ""
"0000120857" "0" "70" "1" "94546150" "94546150" "subst" "4.06828E-6" "01695" "ABCA4_000346" "g.94546150T>A" "" "{PMID:Rivera 2000:10958763}" "" "E328V" "" "Germline" "" "" "0" "" "" "g.94080594T>A" "" "likely pathogenic" ""
"0000120858" "0" "70" "1" "94528167" "94528167" "subst" "0" "01695" "ABCA4_000145" "g.94528167G>T" "" "{PMID:Rivera 2000:10958763}" "" "Q635K" "" "Germline" "?" "" "0" "" "" "g.94062611G>T" "" "likely pathogenic" ""
"0000120859" "0" "90" "1" "94544185" "94544185" "subst" "8.12137E-6" "01695" "ABCA4_000177" "g.94544185C>T" "ExAC 1, 121412, 0, 0.000008236" "{PMID:Rivera 2000:10958763}" "" "W438X" "" "Germline" "" "" "0" "" "" "g.94078629C>T" "" "pathogenic" ""
"0000120860" "0" "90" "1" "94544185" "94544185" "subst" "8.12137E-6" "01695" "ABCA4_000177" "g.94544185C>T" "ExAC 1, 121412, 0, 0.000008236" "{PMID:Rivera 2000:10958763}" "" "W438X" "" "Germline" "" "" "0" "" "" "g.94078629C>T" "" "pathogenic" ""
"0000120861" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Rivera 2000:10958763}" "" "L541P-A1038V" "" "Germline" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000120862" "1" "50" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Rivera 2000:10958763}" "" "L541P-A1038V" "" "Germline" "" "" "0" "" "" "g.94043413G>A" "" "VUS" ""
"0000120863" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Rivera 2000:10958763}" "" "L541P-A1038V" "" "Germline" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000120864" "1" "50" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Rivera 2000:10958763}" "" "L541P-A1038V" "" "Germline" "" "" "0" "" "" "g.94043413G>A" "" "VUS" ""
"0000120865" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Rivera 2000:10958763}" "" "L541P-A1038V" "" "Germline" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000120866" "1" "50" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Rivera 2000:10958763}" "" "L541P-A1038V" "" "Germline" "" "" "0" "" "" "g.94043413G>A" "" "VUS" ""
"0000120867" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Rivera 2000:10958763}" "" "L541P-A1038V" "" "Germline" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000120868" "1" "50" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Rivera 2000:10958763}" "" "L541P-A1038V" "" "Germline" "" "" "0" "" "" "g.94043413G>A" "" "VUS" ""
"0000120869" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Rivera 2000:10958763}" "" "L541P-A1038V" "" "Germline" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000120870" "1" "50" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Rivera 2000:10958763}" "" "L541P-A1038V" "" "Germline" "" "" "0" "" "" "g.94043413G>A" "" "VUS" ""
"0000120871" "0" "50" "1" "94528167" "94528167" "subst" "0" "01695" "ABCA4_000268" "g.94528167G>A" "" "{PMID:Rivera 2000:10958763}" "" "Q635X" "" "Germline" "" "" "0" "" "" "g.94062611G>A" "" "VUS" ""
"0000120872" "0" "50" "1" "94526296" "94526296" "subst" "1.64555E-5" "01695" "ABCA4_000768" "g.94526296G>A" "ExAC 1, 96614, 0, 0.00001035" "{PMID:Rivera 2000:10958763}" "" "R653C" "" "Germline" "" "" "0" "" "" "g.94060740G>A" "" "VUS" ""
"0000120873" "0" "50" "1" "94526212" "94526212" "subst" "1.22012E-5" "01695" "ABCA4_000075" "g.94526212G>A" "ExAC 3, 120836, 0, 0.00002483" "{PMID:Rivera 2000:10958763}" "" "R681X" "" "Germline" "" "" "0" "" "" "g.94060656G>A" "" "VUS" ""
"0000120874" "0" "50" "1" "94526212" "94526212" "subst" "1.22012E-5" "01695" "ABCA4_000075" "g.94526212G>A" "ExAC 3, 120836, 0, 0.00002483" "{PMID:Rivera 2000:10958763}" "" "R681X" "" "Germline" "" "" "0" "" "" "g.94060656G>A" "" "VUS" ""
"0000120875" "0" "50" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "ExAC 601, 118484, 2, 0.005072" "{PMID:Rivera 2000:10958763}" "" "2588G>C" "" "Germline" "" "rs76157638" "0" "" "" "g.94051698C>G" "" "VUS" ""
"0000120876" "0" "50" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "ExAC 601, 118484, 2, 0.005072" "{PMID:Rivera 2000:10958763}" "" "2588G>C" "" "Germline" "" "rs76157638" "0" "" "" "g.94051698C>G" "" "VUS" ""
"0000120877" "0" "50" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "ExAC 601, 118484, 2, 0.005072" "{PMID:Rivera 2000:10958763}" "" "2588G>C" "" "Germline" "" "rs76157638" "0" "" "" "g.94051698C>G" "" "VUS" ""
"0000120878" "0" "50" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "ExAC 601, 118484, 2, 0.005072" "{PMID:Rivera 2000:10958763}" "" "2588G>C" "" "Germline" "" "rs76157638" "0" "" "" "g.94051698C>G" "" "VUS" ""
"0000120879" "0" "50" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "ExAC 173, 121304, 0, 0.001426" "{PMID:Rivera 2000:10958763}" "" "A1038V" "" "Germline" "" "" "0" "" "" "g.94043413G>A" "" "VUS" ""
"0000120880" "0" "50" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "ExAC 173, 121304, 0, 0.001426" "{PMID:Rivera 2000:10958763}" "" "A1038V" "" "Germline" "" "" "0" "" "" "g.94043413G>A" "" "VUS" ""
"0000120881" "0" "50" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "ExAC 173, 121304, 0, 0.001426" "{PMID:Rivera 2000:10958763}" "" "A1038V" "" "Germline" "" "" "0" "" "" "g.94043413G>A" "" "VUS" ""
"0000120882" "0" "50" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "ExAC 14, 121282, 0, 0.0001154" "{PMID:Rivera 2000:10958763}" "" "R1108C" "" "Germline" "" "" "0" "" "" "g.94042767G>A" "" "VUS" ""
"0000120883" "0" "50" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "ExAC 14, 121282, 0, 0.0001154" "{PMID:Rivera 2000:10958763}" "" "R1108C" "" "Germline" "" "" "0" "" "" "g.94042767G>A" "" "VUS" ""
"0000120884" "0" "50" "1" "94502706" "94502706" "subst" "0" "01695" "ABCA4_000597" "g.94502706C>A" "" "{PMID:Rivera 2000:10958763}" "" "E1270X" "" "Germline" "" "" "0" "" "" "g.94037150C>A" "" "VUS" ""
"0000120885" "0" "50" "1" "94496547" "94496547" "subst" "1.21904E-5" "01695" "ABCA4_000560" "g.94496547C>T" "" "{PMID:Rivera 2000:10958763}" "" "IVS28+5G>A" "" "Germline" "" "" "0" "" "" "g.94030991C>T" "" "VUS" ""
"0000120886" "0" "50" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "ExAC 24, 119274, 0, 0.0002012" "{PMID:Rivera 2000:10958763}" "" "P1380L" "" "Germline" "" "" "0" "" "" "g.94031110G>A" "" "VUS" ""
"0000120887" "0" "50" "1" "94496571" "94496571" "subst" "4.06174E-6" "01695" "ABCA4_000111" "g.94496571G>A" "" "{PMID:Rivera 2000:10958763}" "" "Q1412X" "" "Germline" "" "" "0" "" "" "g.94031015G>A" "" "VUS" ""
"0000120888" "0" "50" "1" "94495083" "94495083" "subst" "0.000124542" "01695" "ABCA4_000542" "g.94495083G>A" "ExAC 11, 77176, 0, 0.0001425" "{PMID:Rivera 2000:10958763}" "" "P1486L" "" "Germline" "" "" "0" "" "" "g.94029527G>A" "" "VUS" ""
"0000120889" "0" "50" "1" "94490534" "94490534" "subst" "0.000125895" "01695" "ABCA4_000520" "g.94490534G>A" "ExAC 14, 121396, 0, 0.0001153" "{PMID:Rivera 2000:10958763}" "" "T1537M" "" "Germline" "" "" "0" "" "" "g.94024978G>A" "" "VUS" ""
"0000120890" "0" "50" "1" "94481319" "94481319" "subst" "0" "01695" "ABCA4_000454" "g.94481319A>G" "" "{PMID:Rivera 2000:10958763}" "" "L1763P" "" "Germline" "" "" "0" "" "" "g.94015763A>G" "" "VUS" ""
"0000120891" "0" "50" "1" "94480098" "94480098" "subst" "0" "01695" "ABCA4_000437" "g.94480098C>T" "" "{PMID:Rivera 2000:10958763}" "" "IVS38+1G>A" "" "Germline" "" "" "0" "" "" "g.94014542C>T" "" "VUS" ""
"0000120892" "0" "50" "1" "94476377" "94476377" "subst" "0.00160473" "01695" "ABCA4_000411" "g.94476377C>T" "ExAC 216, 121058, 1, 0.001784" "{PMID:Rivera 2000:10958763}" "" "R1898H" "On its own not significantely found more often in published STGD compared to ExAC (p-value 0.39). However, together with other non-significant variants published related to STGD, they are significantly more often in STGD patients (p-value <0.01)." "Germline" "" "" "0" "" "" "g.94010821C>T" "" "VUS" ""
"0000120893" "0" "50" "1" "94476377" "94476377" "subst" "0.00160473" "01695" "ABCA4_000411" "g.94476377C>T" "ExAC 216, 121058, 1, 0.001784" "{PMID:Rivera 2000:10958763}" "" "R1898H" "On its own not significantely found more often in published STGD compared to ExAC (p-value 0.39). However, together with other non-significant variants published related to STGD, they are significantly more often in STGD patients (p-value <0.01)." "Germline" "" "" "0" "" "" "g.94010821C>T" "" "VUS" ""
"0000120894" "0" "50" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "ExAC 42, 120772, 0, 0.0003478" "{PMID:Rivera 2000:10958763}" "" "IVS40+5G>A" "" "Germline" "" "" "0" "" "" "g.94010795C>T" "" "VUS" ""
"0000120895" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "ExAC 613, 121302, 4, 0.005054" "{PMID:Rivera 2000:10958763}" "" "G1961E" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000120896" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "ExAC 613, 121302, 4, 0.005054" "{PMID:Rivera 2000:10958763}" "" "G1961E" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000120897" "0" "50" "1" "94467467" "94467467" "subst" "4.06164E-6" "01695" "ABCA4_000095" "g.94467467G>C" "" "{PMID:Rivera 2000:10958763}" "" "R2077G" "" "Germline" "" "" "0" "" "" "g.94001911G>C" "" "VUS" ""
"0000120898" "11" "70" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "ExAC 14, 121282, 0, 0.0001154" "{PMID:Yatsenko 2001:11379881}" "" "3322C→T" "" "Germline" "yes" "" "0" "" "" "g.94042767G>A" "" "likely pathogenic" ""
"0000120899" "21" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "ExAC 26, 121404, 0, 0.0002142" "{PMID:Yatsenko 2001:11379881}" "" "6079C→T" "" "Germline" "" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic" ""
"0000120900" "21" "90" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "ExAC 26, 121404, 0, 0.0002142" "{PMID:Yatsenko 2001:11379881}" "" "6079C→T" "" "Germline" "" "" "0" "" "" "g.94005509G>A" "" "pathogenic" ""
"0000120901" "11" "70" "1" "94548913" "94548913" "subst" "0" "01695" "ABCA4_000359" "g.94548913G>A" "" "{PMID:Yatsenko 2001:11379881}" "" "853C>T" "" "Germline" "yes" "" "0" "" "" "g.94083357G>A" "" "likely pathogenic" ""
"0000120902" "21" "90" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "ExAC 26, 121404, 0, 0.0002142" "{PMID:Yatsenko 2001:11379881}" "" "6079C→T" "" "Germline" "" "" "0" "" "" "g.94005509G>A" "" "pathogenic" ""
"0000120903" "11" "70" "1" "94548913" "94548913" "subst" "0" "01695" "ABCA4_000359" "g.94548913G>A" "" "{PMID:Yatsenko 2001:11379881}" "" "853C>T" "" "Germline" "yes" "" "0" "" "" "g.94083357G>A" "" "likely pathogenic" ""
"0000120904" "21" "90" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "ExAC 26, 121404, 0, 0.0002142" "{PMID:Yatsenko 2001:11379881}" "" "6079C→T" "" "Germline" "" "" "0" "" "" "g.94005509G>A" "" "pathogenic" ""
"0000120905" "11" "70" "1" "94548913" "94548913" "subst" "0" "01695" "ABCA4_000359" "g.94548913G>A" "" "{PMID:Yatsenko 2001:11379881}" "" "853C>T" "" "Germline" "yes" "" "0" "" "" "g.94083357G>A" "" "likely pathogenic" ""
"0000120906" "21" "90" "1" "94466628" "94466628" "subst" "0.000109748" "01695" "ABCA4_000094" "g.94466628G>A" "ExAC 14, 121222, 0, 0.0001155" "{PMID:Yatsenko 2001:11379881}" "" "6316C→T" "" "Germline" "" "" "0" "" "" "g.94001072G>A" "" "pathogenic" ""
"0000120907" "11" "70" "1" "94463435" "94463435" "dup" "0" "01695" "ABCA4_000857" "g.94463435dup" "" "{PMID:Yatsenko 2001:11379881}" "" "6710insA" "" "Germline" "yes" "" "0" "" "" "g.93997879dup" "" "likely pathogenic" ""
"0000120908" "21" "90" "1" "94466628" "94466628" "subst" "0.000109748" "01695" "ABCA4_000094" "g.94466628G>A" "ExAC 14, 121222, 0, 0.0001155" "{PMID:Yatsenko 2001:11379881}" "" "6316C→T" "" "Germline" "" "" "0" "" "" "g.94001072G>A" "" "pathogenic" ""
"0000120909" "11" "70" "1" "94463435" "94463435" "dup" "0" "01695" "ABCA4_000857" "g.94463435dup" "" "{PMID:Yatsenko 2001:11379881}" "" "6710insA" "" "Germline" "yes" "" "0" "" "" "g.93997879dup" "" "likely pathogenic" ""
"0000120910" "0" "50" "1" "94495078" "94495078" "subst" "8.37044E-6" "01695" "ABCA4_000042" "g.94495078A>G" "ExAC 1, 70400, 0, 0.0000142" "{PMID:Yatsenko 2001:11379881}" "" "4462T→C" "" "Germline" "" "" "0" "" "" "g.94029522A>G" "" "VUS" ""
"0000120911" "0" "50" "1" "94495078" "94495078" "subst" "8.37044E-6" "01695" "ABCA4_000042" "g.94495078A>G" "ExAC 1, 70400, 0, 0.0000142" "{PMID:Yatsenko 2001:11379881}" "" "4462T→C" "" "Germline" "" "" "0" "" "" "g.94029522A>G" "" "VUS" ""
"0000120912" "11" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "ExAC 14, 121282, 0, 0.0001154" "{PMID:Yatsenko 2001:11379881}" "" "3322C→T" "" "Germline" "yes" "" "0" "" "" "g.94042767G>A" "" "pathogenic" ""
"0000120913" "21" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "ExAC 601, 118484, 2, 0.005072" "{PMID:Yatsenko 2001:11379881}" "" "2588G→C" "" "Germline" "" "rs76157638" "0" "" "" "g.94051698C>G" "" "likely pathogenic" ""
"0000120914" "11" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "ExAC 14, 121282, 0, 0.0001154" "{PMID:Yatsenko 2001:11379881}" "" "3322C→T" "" "Germline" "yes" "" "0" "" "" "g.94042767G>A" "" "pathogenic" ""
"0000120915" "21" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "ExAC 601, 118484, 2, 0.005072" "{PMID:Yatsenko 2001:11379881}" "" "2588G→C" "" "Germline" "" "rs76157638" "0" "" "" "g.94051698C>G" "" "likely pathogenic" ""
"0000120916" "21" "70" "1" "94486895" "94486895" "subst" "3.24923E-5" "01695" "ABCA4_000484" "g.94486895C>T" "ExAC 7, 121398, 0, 0.00005766" "{PMID:Yatsenko 2001:11379881}" "" "4919G→A" "" "Germline" "" "" "0" "" "" "g.94021339C>T" "" "likely pathogenic" ""
"0000120917" "11" "70" "1" "94510248" "94510248" "subst" "0.000544123" "01695" "ABCA4_000107" "g.94510248C>G" "ExAC 87, 121410, 0, 0.0007166" "{PMID:Yatsenko 2001:11379881}" "" "2971G→C" "" "Germline" "yes" "" "0" "" "" "g.94044692C>G" "" "likely pathogenic" ""
"0000120918" "21" "70" "1" "94486895" "94486895" "subst" "3.24923E-5" "01695" "ABCA4_000484" "g.94486895C>T" "ExAC 7, 121398, 0, 0.00005766" "{PMID:Yatsenko 2001:11379881}" "" "4919G→A" "" "Germline" "" "" "0" "" "" "g.94021339C>T" "" "likely pathogenic" ""
"0000120919" "11" "70" "1" "94510248" "94510248" "subst" "0.000544123" "01695" "ABCA4_000107" "g.94510248C>G" "ExAC 87, 121410, 0, 0.0007166" "{PMID:Yatsenko 2001:11379881}" "" "2971G→C" "" "Germline" "yes" "" "0" "" "" "g.94044692C>G" "" "likely pathogenic" ""
"0000120920" "21" "70" "1" "94486895" "94486895" "subst" "3.24923E-5" "01695" "ABCA4_000484" "g.94486895C>T" "ExAC 7, 121398, 0, 0.00005766" "{PMID:Yatsenko 2001:11379881}" "" "4919G→A" "" "Germline" "" "" "0" "" "" "g.94021339C>T" "" "likely pathogenic" ""
"0000120921" "11" "70" "1" "94510248" "94510248" "subst" "0.000544123" "01695" "ABCA4_000107" "g.94510248C>G" "ExAC 87, 121410, 0, 0.0007166" "{PMID:Yatsenko 2001:11379881}" "" "2971G→C" "" "Germline" "yes" "" "0" "" "" "g.94044692C>G" "" "likely pathogenic" ""
"0000120922" "21" "30" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "ExAC 13, 121216, 0, 0.0001072" "{PMID:Yatsenko 2001:11379881}" "" "768G→T" "" "Germline" "" "" "0" "" "" "g.94098794C>A" "" "likely benign" ""
"0000120923" "11" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "ExAC 173, 121304, 0, 0.001426" "{PMID:Yatsenko 2001:11379881}" "" "3113C→T" "" "Germline" "?" "" "0" "" "" "g.94043413G>A" "" "pathogenic" ""
"0000120924" "0" "50" "1" "94467460" "94467461" "del" "0" "01695" "ABCA4_000778" "g.94467460_94467461del" "" "{PMID:Yatsenko 2001:11379881}" "" "6238–6239del2 bp" "" "Germline" "" "" "0" "" "" "g.94001904_94001905del" "" "VUS" ""
"0000120925" "0" "50" "1" "94467460" "94467461" "del" "0" "01695" "ABCA4_000778" "g.94467460_94467461del" "" "{PMID:Yatsenko 2001:11379881}" "" "6238–6239del2 bp" "" "Germline" "" "" "0" "" "" "g.94001904_94001905del" "" "VUS" ""
"0000120926" "0" "70" "1" "94568687" "94568687" "subst" "1.62641E-5" "01695" "ABCA4_000024" "g.94568687G>A" "ExAC 1, 120844, 0, 0.000008275" "{PMID:Yatsenko 2001:11379881}" "" "454C→T" "" "Germline" "" "" "0" "" "" "g.94103131G>A" "" "likely pathogenic" ""
"0000120927" "0" "90" "1" "94471055" "94471055" "subst" "0.00035346" "01695" "ABCA4_000029" "g.94471055C>T" "ExAC 47, 121404, 1, 0.0003871" "{PMID:Yatsenko 2001:11379881}" "" "6089G→A" "" "Germline" "?" "" "0" "" "" "g.94005499C>T" "" "pathogenic" ""
"0000120928" "11" "90" "1" "94471055" "94471055" "subst" "0.00035346" "01695" "ABCA4_000029" "g.94471055C>T" "ExAC 47, 121404, 1, 0.0003871" "{PMID:Yatsenko 2001:11379881}" "" "6089G→A" "" "Germline" "yes" "" "0" "" "" "g.94005499C>T" "" "pathogenic" ""
"0000120929" "21" "70" "1" "94526247" "94526248" "del" "0" "01695" "ABCA4_000761" "g.94526247_94526248del" "" "{PMID:Yatsenko 2001:11379881}" "" "2005–2006del2 bp" "" "Germline" "" "" "0" "" "" "g.94060691_94060692del" "" "likely pathogenic" ""
"0000120930" "11" "90" "1" "94471055" "94471055" "subst" "0.00035346" "01695" "ABCA4_000029" "g.94471055C>T" "ExAC 47, 121404, 1, 0.0003871" "{PMID:Yatsenko 2001:11379881}" "" "6089G→A" "" "Germline" "yes" "" "0" "" "" "g.94005499C>T" "" "pathogenic" ""
"0000120931" "21" "70" "1" "94526247" "94526248" "del" "0" "01695" "ABCA4_000761" "g.94526247_94526248del" "" "{PMID:Yatsenko 2001:11379881}" "" "2005–2006del2 bp" "" "Germline" "" "" "0" "" "" "g.94060691_94060692del" "" "likely pathogenic" ""
"0000120932" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Yatsenko 2001:11379881}" "" "[1622T→C;3113C→T]" "" "Germline" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000120933" "1" "50" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Yatsenko 2001:11379881}" "" "[1622T→C;3113C→T]" "" "Germline" "" "" "0" "" "" "g.94043413G>A" "" "VUS" ""
"0000120934" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "ExAC 173, 121304, 0, 0.001426" "{PMID:Yatsenko 2001:11379881}" "" "3113C→T" "" "Germline" "?" "" "0" "" "" "g.94043413G>A" "" "pathogenic" ""
"0000120935" "0" "30" "1" "94485137" "94485137" "subst" "0" "01695" "ABCA4_000464" "g.94485137C>T" "ExAC 3, 49858, 0, 0.00006017" "{PMID:Yatsenko 2001:11379881}" "" "5196+1G→A" "" "Germline" "" "" "0" "" "" "g.94019581C>T" "" "likely benign" ""
"0000120936" "0" "50" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "ExAC 14, 121282, 0, 0.0001154" "{PMID:Yatsenko 2001:11379881}" "" "3322C→T" "" "Germline" "" "" "0" "" "" "g.94042767G>A" "" "VUS" ""
"0000120937" "0" "50" "1" "94487490" "94487490" "subst" "0.00122268" "01695" "ABCA4_000506" "g.94487490A>G" "ExAC 158, 121114, 0, 0.001305" "{PMID:Yatsenko 2001:11379881}" "" "4685T→C" "" "Germline" "" "" "0" "" "" "g.94021934A>G" "" "VUS" ""
"0000120938" "0" "50" "1" "94485137" "94485137" "subst" "0" "01695" "ABCA4_000464" "g.94485137C>T" "ExAC 3, 49858, 0, 0.00006017" "{PMID:Yatsenko 2001:11379881}" "" "5196+1G→A" "" "Germline" "" "" "0" "" "" "g.94019581C>T" "" "VUS" ""
"0000120939" "21" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "ExAC 14, 121282, 0, 0.0001154" "{PMID:Yatsenko 2001:11379881}" "" "3322C→T" "" "Germline" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic" ""
"0000120940" "11" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "ExAC 601, 118484, 2, 0.005072" "{PMID:Yatsenko 2001:11379881}" "" "2588G→C" "" "Germline" "yes" "rs76157638" "0" "" "" "g.94051698C>G" "" "likely pathogenic" ""
"0000120941" "0" "70" "1" "94546098" "94546111" "del" "0" "01695" "ABCA4_000022" "g.94546098_94546111del" "" "{PMID:Yatsenko 2001:11379881}" "" "1025–1038del14 bp" "" "Germline" "" "" "0" "" "" "g.94080542_94080555del" "" "likely pathogenic" ""
"0000120942" "0" "50" "1" "94512566" "94512566" "subst" "7.31149E-5" "01695" "ABCA4_000693" "g.94512566G>A" "ExAC 6, 121172, 0, 0.00004952" "{PMID:Yatsenko 2001:11379881}" "" "2827C→T" "" "Germline" "" "" "0" "" "" "g.94047010G>A" "" "VUS" ""
"0000120943" "0" "50" "1" "94512566" "94512566" "subst" "7.31149E-5" "01695" "ABCA4_000693" "g.94512566G>A" "ExAC 6, 121172, 0, 0.00004952" "{PMID:Yatsenko 2001:11379881}" "" "2827C→T" "" "Germline" "" "" "0" "" "" "g.94047010G>A" "" "VUS" ""
"0000120944" "11" "70" "1" "94512566" "94512566" "subst" "7.31149E-5" "01695" "ABCA4_000693" "g.94512566G>A" "ExAC 6, 121172, 0, 0.00004952" "{PMID:Yatsenko 2001:11379881}" "" "2827C→T" "" "Germline" "" "" "0" "" "" "g.94047010G>A" "" "likely pathogenic" ""
"0000120945" "21" "70" "1" "94506844" "94506844" "subst" "0" "01695" "ABCA4_000617" "g.94506844T>G" "" "{PMID:Yatsenko 2001:11379881}" "" "3443A→C" "" "Germline" "yes" "" "0" "" "" "g.94041288T>G" "" "likely pathogenic" ""
"0000120946" "11" "70" "1" "94512566" "94512566" "subst" "7.31149E-5" "01695" "ABCA4_000693" "g.94512566G>A" "ExAC 6, 121172, 0, 0.00004952" "{PMID:Yatsenko 2001:11379881}" "" "2827C→T" "" "Germline" "" "" "0" "" "" "g.94047010G>A" "" "likely pathogenic" ""
"0000120947" "21" "70" "1" "94506844" "94506844" "subst" "0" "01695" "ABCA4_000617" "g.94506844T>G" "" "{PMID:Yatsenko 2001:11379881}" "" "3443A→C" "" "Germline" "yes" "" "0" "" "" "g.94041288T>G" "" "likely pathogenic" ""
"0000120948" "11" "70" "1" "94508342" "94508342" "subst" "0" "01695" "ABCA4_000631" "g.94508342C>T" "" "{PMID:Yatsenko 2001:11379881}" "" "3303G→A" "" "Germline" "" "" "0" "" "" "g.94042786C>T" "" "likely pathogenic" ""
"0000120949" "21" "90" "1" "94506844" "94506844" "subst" "0" "01695" "ABCA4_000617" "g.94506844T>G" "" "{PMID:Yatsenko 2001:11379881}" "" "3113C→T" "" "Germline" "yes" "" "0" "" "" "g.94041288T>G" "" "pathogenic" ""
"0000120950" "0" "70" "1" "94546118" "94546118" "subst" "8.13326E-6" "01695" "ABCA4_000082" "g.94546118A>C" "" "{PMID:Yatsenko 2001:11379881}" "" "1015T→G" "" "Germline" "" "" "0" "" "" "g.94080562A>C" "" "likely pathogenic" ""
"0000120951" "21" "70" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "ExAC 14, 121282, 0, 0.0001154" "{PMID:Yatsenko 2001:11379881}" "" "3322C→T" "" "Germline" "yes" "" "0" "" "" "g.94042767G>A" "" "likely pathogenic" ""
"0000120952" "11" "70" "1" "94546118" "94546118" "subst" "8.13326E-6" "01695" "ABCA4_000082" "g.94546118A>C" "" "{PMID:Yatsenko 2001:11379881}" "" "1015T→G" "" "Germline" "" "" "0" "" "" "g.94080562A>C" "" "likely pathogenic" ""
"0000120953" "21" "70" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "ExAC 14, 121282, 0, 0.0001154" "{PMID:Yatsenko 2001:11379881}" "" "3322C→T" "" "Germline" "yes" "" "0" "" "" "g.94042767G>A" "" "likely pathogenic" ""
"0000120954" "11" "70" "1" "94546118" "94546118" "subst" "8.13326E-6" "01695" "ABCA4_000082" "g.94546118A>C" "" "{PMID:Yatsenko 2001:11379881}" "" "1015T→G" "" "Germline" "" "" "0" "" "" "g.94080562A>C" "" "likely pathogenic" ""
"0000120955" "0" "50" "1" "94505604" "94505604" "subst" "0.00645586" "01695" "ABCA4_000092" "g.94505604A>C" "ExAC 879, 64452, 44, 0.01364" "{PMID:Yatsenko 2001:11379881}" "" "3602T→G" "" "Germline" "" "" "0" "" "" "g.94040048A>C" "" "VUS" ""
"0000120956" "0" "70" "1" "94578583" "94578583" "del" "0" "01695" "ABCA4_000248" "g.94578583del" "" "{PMID:Webster 2001:11328725}" "" "106delT" "" "Germline" "" "" "0" "" "" "g.94113027del" "" "likely pathogenic" ""
"0000120957" "0" "70" "1" "94578528" "94578528" "subst" "0" "01695" "ABCA4_000244" "g.94578528C>T" "" "{PMID:Webster 2001:11328725}" "" "160+1g > a" "" "Germline" "" "" "0" "" "" "g.94112972C>T" "" "likely pathogenic" ""
"0000120958" "0" "90" "1" "94577135" "94577135" "subst" "2.43718E-5" "01695" "ABCA4_000240" "g.94577135C>T" "ExAC 2, 121210, 0, 0.0000165" "{PMID:Webster 2001:11328725}" "" "161G > A" "" "Germline" "" "" "0" "" "" "g.94111579C>T" "" "pathogenic" ""
"0000120959" "0" "90" "1" "94577135" "94577135" "subst" "2.43718E-5" "01695" "ABCA4_000240" "g.94577135C>T" "ExAC 2, 121210, 0, 0.0000165" "{PMID:Webster 2001:11328725}" "" "161G > A" "" "Germline" "" "" "0" "" "" "g.94111579C>T" "" "pathogenic" ""
"0000120960" "0" "90" "1" "94577135" "94577135" "subst" "2.43718E-5" "01695" "ABCA4_000240" "g.94577135C>T" "ExAC 2, 121210, 0, 0.0000165" "{PMID:Webster 2001:11328725}" "" "161G > A" "" "Germline" "" "" "0" "" "" "g.94111579C>T" "" "pathogenic" ""
"0000120961" "0" "90" "1" "94577135" "94577135" "subst" "2.43718E-5" "01695" "ABCA4_000240" "g.94577135C>T" "ExAC 2, 121210, 0, 0.0000165" "{PMID:Webster 2001:11328725}" "" "161G > A" "" "Germline" "" "" "0" "" "" "g.94111579C>T" "" "pathogenic" ""
"0000120962" "0" "90" "1" "94577135" "94577135" "subst" "2.43718E-5" "01695" "ABCA4_000240" "g.94577135C>T" "ExAC 2, 121210, 0, 0.0000165" "{PMID:Webster 2001:11328725}" "" "161G > A" "" "Germline" "" "" "0" "" "" "g.94111579C>T" "" "pathogenic" ""
"0000120963" "0" "90" "1" "94577135" "94577135" "subst" "2.43718E-5" "01695" "ABCA4_000240" "g.94577135C>T" "ExAC 2, 121210, 0, 0.0000165" "{PMID:Webster 2001:11328725}" "" "161G > A" "" "Germline" "" "" "0" "" "" "g.94111579C>T" "" "pathogenic" ""
"0000120964" "0" "50" "1" "94577117" "94577117" "subst" "1.62472E-5" "01695" "ABCA4_000237" "g.94577117G>A" "ExAC 1, 121292, 0, 0.000008245" "{PMID:Webster 2001:11328725}" "" "179C > T" "" "Germline" "" "" "0" "" "" "g.94111561G>A" "" "VUS" ""
"0000120965" "0" "50" "1" "94577117" "94577117" "subst" "1.62472E-5" "01695" "ABCA4_000237" "g.94577117G>A" "ExAC 1, 121292, 0, 0.000008245" "{PMID:Webster 2001:11328725}" "" "179C > T" "" "Germline" "" "" "0" "" "" "g.94111561G>A" "" "VUS" ""
"0000120966" "0" "50" "1" "94577102" "94577102" "subst" "4.06161E-6" "01695" "ABCA4_000033" "g.94577102C>T" "" "{PMID:Webster 2001:11328725}" "" "194G > A" "" "Germline" "" "" "0" "" "" "g.94111546C>T" "" "VUS" ""
"0000120967" "0" "50" "1" "94577102" "94577102" "subst" "4.06161E-6" "01695" "ABCA4_000033" "g.94577102C>T" "" "{PMID:Webster 2001:11328725}" "" "194G > A" "" "Germline" "" "" "0" "" "" "g.94111546C>T" "" "VUS" ""
"0000120968" "0" "50" "1" "94577073" "94577073" "subst" "0" "01695" "ABCA4_000231" "g.94577073A>C" "" "{PMID:Webster 2001:11328725}" "" "223T > G" "" "Germline" "" "" "0" "" "" "g.94111517A>C" "" "VUS" ""
"0000120969" "0" "50" "1" "94577073" "94577073" "subst" "0" "01695" "ABCA4_000231" "g.94577073A>C" "" "{PMID:Webster 2001:11328725}" "" "223T > G" "" "Germline" "" "" "0" "" "" "g.94111517A>C" "" "VUS" ""
"0000120970" "0" "50" "1" "94577046" "94577049" "del" "0" "01695" "ABCA4_000228" "g.94577046_94577049del" "" "{PMID:Webster 2001:11328725}" "" "247delCAAA" "" "Germline" "" "" "0" "" "" "g.94111490_94111493del" "" "VUS" ""
"0000120971" "0" "50" "1" "94577046" "94577049" "del" "0" "01695" "ABCA4_000228" "g.94577046_94577049del" "" "{PMID:Webster 2001:11328725}" "" "247delCAAA" "" "Germline" "" "" "0" "" "" "g.94111490_94111493del" "" "VUS" ""
"0000120972" "0" "50" "1" "94576998" "94576998" "subst" "0" "01695" "ABCA4_000222" "g.94576998A>G" "" "{PMID:Webster 2001:11328725}" "" "298C > T" "" "Germline" "" "" "0" "" "" "g.94111442A>G" "" "VUS" ""
"0000120973" "0" "50" "1" "94568687" "94568687" "subst" "1.62641E-5" "01695" "ABCA4_000024" "g.94568687G>A" "ExAC 1, 120844, 0, 0.000008275" "{PMID:Webster 2001:11328725}" "" "454C > T" "" "Germline" "" "" "0" "" "" "g.94103131G>A" "" "VUS" ""
"0000120974" "0" "50" "1" "94568687" "94568687" "subst" "1.62641E-5" "01695" "ABCA4_000024" "g.94568687G>A" "ExAC 1, 120844, 0, 0.000008275" "{PMID:Webster 2001:11328725}" "" "454C > T" "" "Germline" "" "" "0" "" "" "g.94103131G>A" "" "VUS" ""
"0000120975" "0" "50" "1" "94564544" "94564544" "subst" "0.000432798" "01695" "ABCA4_000383" "g.94564544C>T" "ExAC 63, 98822, 0, 0.0006375" "{PMID:Webster 2001:11328725}" "" "574G > A" "" "Germline" "" "" "0" "" "" "g.94098988C>T" "" "VUS" ""
"0000120976" "0" "50" "1" "94564500" "94564500" "subst" "0.00100414" "01695" "ABCA4_000069" "g.94564500G>C" "ExAC 162, 118200, 0, 0.001371" "{PMID:Webster 2001:11328725}" "" "618C > G" "" "Germline" "" "" "0" "" "" "g.94098944G>C" "" "VUS" ""
"0000120977" "0" "50" "1" "94564500" "94564500" "subst" "0.00100414" "01695" "ABCA4_000069" "g.94564500G>C" "ExAC 162, 118200, 0, 0.001371" "{PMID:Webster 2001:11328725}" "" "618C > G" "" "Germline" "" "" "0" "" "" "g.94098944G>C" "" "VUS" ""
"0000120978" "0" "50" "1" "94564500" "94564500" "subst" "0.00100414" "01695" "ABCA4_000069" "g.94564500G>C" "ExAC 162, 118200, 0, 0.001371" "{PMID:Webster 2001:11328725}" "" "618C > G" "" "Germline" "" "" "0" "" "" "g.94098944G>C" "" "VUS" ""
"0000120979" "0" "50" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "ExAC 14, 120056, 0, 0.0001166" "{PMID:Webster 2001:11328725}" "" "634C > T" "" "Germline" "" "" "0" "" "" "g.94098928G>A" "" "VUS" ""
"0000120980" "0" "50" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "ExAC 14, 120056, 0, 0.0001166" "{PMID:Webster 2001:11328725}" "" "634C > T" "" "Germline" "" "" "0" "" "" "g.94098928G>A" "" "VUS" ""
"0000120981" "0" "50" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "ExAC 14, 120056, 0, 0.0001166" "{PMID:Webster 2001:11328725}" "" "634C > T" "" "Germline" "" "" "0" "" "" "g.94098928G>A" "" "VUS" ""
"0000120982" "0" "50" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "ExAC 14, 120056, 0, 0.0001166" "{PMID:Webster 2001:11328725}" "" "634C > T" "" "Germline" "" "" "0" "" "" "g.94098928G>A" "" "VUS" ""
"0000120983" "0" "50" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "ExAC 14, 120056, 0, 0.0001166" "{PMID:Webster 2001:11328725}" "" "634C > T" "" "Germline" "" "" "0" "" "" "g.94098928G>A" "" "VUS" ""
"0000120984" "0" "50" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "ExAC 14, 120056, 0, 0.0001166" "{PMID:Webster 2001:11328725}" "" "634C > T" "" "Germline" "" "" "0" "" "" "g.94098928G>A" "" "VUS" ""
"0000120985" "0" "50" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "ExAC 14, 120056, 0, 0.0001166" "{PMID:Webster 2001:11328725}" "" "634C > T" "" "Germline" "" "" "0" "" "" "g.94098928G>A" "" "VUS" ""
"0000120986" "0" "50" "1" "94564483" "94564483" "subst" "0.0409724" "01695" "ABCA4_000009" "g.94564483C>T" "ExAC 4891, 120214, 119, 0.04069" "{PMID:Webster 2001:11328725}" "" "635G > A" "" "Germline" "" "" "0" "" "" "g.94098927C>T" "" "VUS" ""
"0000120987" "0" "50" "1" "94564483" "94564483" "subst" "0.0409724" "01695" "ABCA4_000009" "g.94564483C>T" "ExAC 4891, 120214, 119, 0.04069" "{PMID:Webster 2001:11328725}" "" "635G > A" "" "Germline" "" "" "0" "" "" "g.94098927C>T" "" "VUS" ""
"0000120988" "0" "50" "1" "94564483" "94564483" "subst" "0.0409724" "01695" "ABCA4_000009" "g.94564483C>T" "ExAC 4891, 120214, 119, 0.04069" "{PMID:Webster 2001:11328725}" "" "635G > A" "" "Germline" "" "" "0" "" "" "g.94098927C>T" "" "VUS" ""
"0000120989" "0" "50" "1" "94564483" "94564483" "subst" "0.0409724" "01695" "ABCA4_000009" "g.94564483C>T" "ExAC 4891, 120214, 119, 0.04069" "{PMID:Webster 2001:11328725}" "" "635G > A" "" "Germline" "" "" "0" "" "" "g.94098927C>T" "" "VUS" ""
"0000120990" "0" "50" "1" "94564483" "94564483" "subst" "0.0409724" "01695" "ABCA4_000009" "g.94564483C>T" "ExAC 4891, 120214, 119, 0.04069" "{PMID:Webster 2001:11328725}" "" "635G > A" "" "Germline" "" "" "0" "" "" "g.94098927C>T" "" "VUS" ""
"0000120991" "0" "50" "1" "94564483" "94564483" "subst" "0.0409724" "01695" "ABCA4_000009" "g.94564483C>T" "ExAC 4891, 120214, 119, 0.04069" "{PMID:Webster 2001:11328725}" "" "635G > A" "" "Germline" "" "" "0" "" "" "g.94098927C>T" "" "VUS" ""
"0000120992" "0" "50" "1" "94564460" "94564460" "subst" "8.1355E-6" "01695" "ABCA4_000056" "g.94564460G>A" "" "{PMID:Webster 2001:11328725}" "" "658C > T" "" "Germline" "" "" "0" "" "" "g.94098904G>A" "" "VUS" ""
"0000120993" "0" "50" "1" "94564460" "94564460" "subst" "8.1355E-6" "01695" "ABCA4_000056" "g.94564460G>A" "" "{PMID:Webster 2001:11328725}" "" "658C > T" "" "Germline" "" "" "0" "" "" "g.94098904G>A" "" "VUS" ""
"0000120994" "0" "50" "1" "94564457" "94564457" "del" "0" "01695" "ABCA4_000379" "g.94564457del" "" "{PMID:Webster 2001:11328725}" "" "661delG" "" "Germline" "" "" "0" "" "" "g.94098901del" "" "VUS" ""
"0000120995" "0" "50" "1" "94564442" "94564454" "del" "0" "01695" "ABCA4_000377" "g.94564442_94564454del" "" "{PMID:Webster 2001:11328725}" "" "666delAAAGACGGTGC" "" "Germline" "" "" "0" "" "" "g.94098886_94098898del" "" "VUS" ""
"0000120996" "0" "50" "1" "94564372" "94564372" "subst" "0" "01695" "ABCA4_000366" "g.94564372T>C" "" "{PMID:Webster 2001:11328725}" "" "746A > C" "" "Germline" "" "" "0" "" "" "g.94098816T>C" "" "VUS" ""
"0000120997" "0" "50" "1" "94546234" "94546234" "subst" "0" "01695" "ABCA4_000351" "g.94546234G>T" "" "{PMID:Webster 2001:11328725}" "" "899C > A" "" "Germline" "" "" "0" "" "" "g.94080678G>T" "" "VUS" ""
"0000120998" "0" "50" "1" "94546136" "94546136" "subst" "1.22031E-5" "01695" "ABCA4_000345" "g.94546136G>A" "ExAC 1, 121370, 0, 0.000008239" "{PMID:Webster 2001:11328725}" "" "997C > T" "" "Germline" "" "" "0" "" "" "g.94080580G>A" "" "VUS" ""
"0000120999" "0" "50" "1" "94544977" "94544977" "subst" "0.000544432" "01695" "ABCA4_000332" "g.94544977A>T" "ExAC 60, 121404, 0, 0.0004942" "{PMID:Webster 2001:11328725}" "" "1140T > A" "" "Germline" "" "" "0" "" "" "g.94079421A>T" "" "VUS" ""
"0000121000" "0" "90" "1" "94544895" "94544895" "subst" "1.62455E-5" "01695" "ABCA4_000329" "g.94544895G>A" "ExAC 3, 121410, 0, 0.00002471" "{PMID:Webster 2001:11328725}" "" "1222C>T" "" "Germline" "" "" "0" "" "" "g.94079339G>A" "" "pathogenic" ""
"0000121001" "0" "50" "1" "94544234" "94544234" "subst" "0.255245" "01695" "ABCA4_000322" "g.94544234T>C" "ExAC 30988, 121400, 4255, 0.2553" "{PMID:Webster 2001:11328725}" "" "1268A>G" "" "Germline" "" "" "0" "" "" "g.94078678T>C" "" "VUS" ""
"0000121002" "0" "50" "1" "94544234" "94544234" "subst" "0.255245" "01695" "ABCA4_000322" "g.94544234T>C" "ExAC 30988, 121400, 4255, 0.2553" "{PMID:Webster 2001:11328725}" "" "1268A>G" "" "Germline" "" "" "0" "" "" "g.94078678T>C" "" "VUS" ""
"0000121003" "0" "50" "1" "94544234" "94544234" "subst" "0.255245" "01695" "ABCA4_000322" "g.94544234T>C" "ExAC 30988, 121400, 4255, 0.2553" "{PMID:Webster 2001:11328725}" "" "1268A>G" "" "Germline" "" "" "0" "" "" "g.94078678T>C" "" "VUS" ""
"0000121004" "0" "50" "1" "94544234" "94544234" "subst" "0.255245" "01695" "ABCA4_000322" "g.94544234T>C" "ExAC 30988, 121400, 4255, 0.2553" "{PMID:Webster 2001:11328725}" "" "1268A>G" "" "Germline" "" "" "0" "" "" "g.94078678T>C" "" "VUS" ""
"0000121005" "0" "50" "1" "94544234" "94544234" "subst" "0.255245" "01695" "ABCA4_000322" "g.94544234T>C" "ExAC 30988, 121400, 4255, 0.2553" "{PMID:Webster 2001:11328725}" "" "1268A>G" "" "Germline" "" "" "0" "" "" "g.94078678T>C" "" "VUS" ""
"0000121006" "0" "50" "1" "94544234" "94544234" "subst" "0.255245" "01695" "ABCA4_000322" "g.94544234T>C" "ExAC 30988, 121400, 4255, 0.2553" "{PMID:Webster 2001:11328725}" "" "1268A>G" "" "Germline" "" "" "0" "" "" "g.94078678T>C" "" "VUS" ""
"0000121007" "0" "50" "1" "94544234" "94544234" "subst" "0.255245" "01695" "ABCA4_000322" "g.94544234T>C" "ExAC 30988, 121400, 4255, 0.2553" "{PMID:Webster 2001:11328725}" "" "1268A>G" "" "Germline" "" "" "0" "" "" "g.94078678T>C" "" "VUS" ""
"0000121008" "0" "50" "1" "94544167" "94544167" "subst" "8.12269E-6" "01695" "ABCA4_000316" "g.94544167G>C" "" "{PMID:Webster 2001:11328725}" "" "1335C>G" "" "Germline" "" "" "0" "" "" "g.94078611G>C" "" "VUS" ""
"0000121009" "0" "90" "1" "94544158" "94544158" "del" "0" "01695" "ABCA4_000315" "g.94544158del" "" "{PMID:Webster 2001:11328725}" "" "1344delG" "" "Germline" "" "" "0" "" "" "g.94078602del" "" "pathogenic" ""
"0000121010" "0" "50" "1" "94543389" "94543389" "subst" "0.000861235" "01695" "ABCA4_000312" "g.94543389C>T" "ExAC 114, 121404, 0, 0.000939" "{PMID:Webster 2001:11328725}" "" "1411G>A" "" "Germline" "" "" "0" "" "" "g.94077833C>T" "" "VUS" ""
"0000121011" "0" "50" "1" "94543389" "94543389" "subst" "0.000861235" "01695" "ABCA4_000312" "g.94543389C>T" "ExAC 114, 121404, 0, 0.000939" "{PMID:Webster 2001:11328725}" "" "1411G>A" "" "Germline" "" "" "0" "" "" "g.94077833C>T" "" "VUS" ""
"0000121012" "0" "50" "1" "94543389" "94543389" "subst" "0.000861235" "01695" "ABCA4_000312" "g.94543389C>T" "ExAC 114, 121404, 0, 0.000939" "{PMID:Webster 2001:11328725}" "" "1411G>A" "" "Germline" "" "" "0" "" "" "g.94077833C>T" "" "VUS" ""
"0000121013" "0" "90" "1" "94543285" "94543289" "del" "0" "01695" "ABCA4_000310" "g.94543285_94543289del" "" "{PMID:Webster 2001:11328725}" "" "1513delATCAC" "" "Germline" "" "" "0" "" "" "g.94077729_94077733del" "" "pathogenic" ""
"0000121014" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Webster 2001:11328725}" "" "1622T>C, 3113C>T" "" "Germline" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000121015" "1" "50" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Webster 2001:11328725}" "" "1622T>C, 3113C>T" "" "Germline" "" "" "0" "" "" "g.94043413G>A" "" "VUS" ""
"0000121016" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Webster 2001:11328725}" "" "1622T>C, 3113C>T" "" "Germline" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000121017" "1" "50" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Webster 2001:11328725}" "" "1622T>C, 3113C>T" "" "Germline" "" "" "0" "" "" "g.94043413G>A" "" "VUS" ""
"0000121018" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Webster 2001:11328725}" "" "1622T>C, 3113C>T" "" "Germline" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000121019" "1" "50" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Webster 2001:11328725}" "" "1622T>C, 3113C>T" "" "Germline" "" "" "0" "" "" "g.94043413G>A" "" "VUS" ""
"0000121020" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Webster 2001:11328725}" "" "1622T>C, 3113C>T" "" "Germline" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000121021" "1" "50" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Webster 2001:11328725}" "" "1622T>C, 3113C>T" "" "Germline" "" "" "0" "" "" "g.94043413G>A" "" "VUS" ""
"0000121022" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Webster 2001:11328725}" "" "1622T>C, 3113C>T" "" "Germline" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000121023" "1" "50" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Webster 2001:11328725}" "" "1622T>C, 3113C>T" "" "Germline" "" "" "0" "" "" "g.94043413G>A" "" "VUS" ""
"0000121024" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Webster 2001:11328725}" "" "1622T>C, 3113C>T" "" "Germline" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000121025" "1" "50" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Webster 2001:11328725}" "" "1622T>C, 3113C>T" "" "Germline" "" "" "0" "" "" "g.94043413G>A" "" "VUS" ""
"0000121026" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Webster 2001:11328725}" "" "1622T>C, 3113C>T" "" "Germline" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000121027" "1" "50" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Webster 2001:11328725}" "" "1622T>C, 3113C>T" "" "Germline" "" "" "0" "" "" "g.94043413G>A" "" "VUS" ""
"0000121028" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Webster 2001:11328725}" "" "1622T>C, 3113C>T" "" "Germline" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000121029" "1" "50" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Webster 2001:11328725}" "" "1622T>C, 3113C>T" "" "Germline" "" "" "0" "" "" "g.94043413G>A" "" "VUS" ""
"0000121030" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Webster 2001:11328725}" "" "1622T>C, 3113C>T" "" "Germline" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000121031" "1" "50" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Webster 2001:11328725}" "" "1622T>C, 3113C>T" "" "Germline" "" "" "0" "" "" "g.94043413G>A" "" "VUS" ""
"0000121032" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Webster 2001:11328725}" "" "1622T>C, 3113C>T" "" "Germline" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000121033" "1" "50" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Webster 2001:11328725}" "" "1622T>C, 3113C>T" "" "Germline" "" "" "0" "" "" "g.94043413G>A" "" "VUS" ""
"0000121034" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Webster 2001:11328725}" "" "1622T>C, 3113C>T" "" "Germline" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000121035" "1" "50" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Webster 2001:11328725}" "" "1622T>C, 3113C>T" "" "Germline" "" "" "0" "" "" "g.94043413G>A" "" "VUS" ""
"0000121036" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "ExAC 6, 119038, 0, 0.0000504" "{PMID:Webster 2001:11328725}" "" "1804C>T" "" "Germline" "" "" "0" "" "" "g.94062710G>A" "" "pathogenic" ""
"0000121037" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "ExAC 6, 119038, 0, 0.0000504" "{PMID:Webster 2001:11328725}" "" "1804C>T" "" "Germline" "" "" "0" "" "" "g.94062710G>A" "" "pathogenic" ""
"0000121038" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "ExAC 6, 119038, 0, 0.0000504" "{PMID:Webster 2001:11328725}" "" "1804C>T" "" "Germline" "" "" "0" "" "" "g.94062710G>A" "" "pathogenic" ""
"0000121039" "0" "90" "1" "94528265" "94528265" "subst" "2.44212E-5" "01695" "ABCA4_000284" "g.94528265C>T" "ExAC 2, 119074, 0, 0.0000168" "{PMID:Webster 2001:11328725}" "" "1805G>A" "" "Germline" "" "" "0" "" "" "g.94062709C>T" "" "pathogenic" ""
"0000121040" "0" "50" "1" "94528251" "94528251" "subst" "0" "01695" "ABCA4_000283" "g.94528251C>A" "" "{PMID:Webster 2001:11328725}" "" "1819G>T" "" "Germline" "" "" "0" "" "" "g.94062695C>A" "" "VUS" ""
"0000121041" "0" "50" "1" "94528247" "94528247" "subst" "0" "01695" "ABCA4_000278" "g.94528247A>T" "" "{PMID:Webster 2001:11328725}" "" "1823T>A" "" "Germline" "" "" "0" "" "" "g.94062691A>T" "" "VUS" ""
"0000121042" "0" "50" "1" "94528143" "94528143" "subst" "0.00124448" "01695" "ABCA4_000076" "g.94528143C>T" "ExAC 196, 121108, 1, 0.001618" "{PMID:Webster 2001:11328725}" "" "1927G>A" "" "Germline" "" "" "0" "" "" "g.94062587C>T" "" "VUS" ""
"0000121043" "0" "50" "1" "94526264" "94526264" "subst" "0" "01695" "ABCA4_000763" "g.94526264C>A" "" "{PMID:Webster 2001:11328725}" "" "1989G>T, Trp663Stop" "" "Germline" "" "" "0" "" "" "g.94060708C>A" "" "VUS" ""
"0000121044" "0" "50" "1" "94526247" "94526248" "del" "0" "01695" "ABCA4_000761" "g.94526247_94526248del" "" "{PMID:Webster 2001:11328725}" "" "2005delAT" "" "Germline" "" "" "0" "" "" "g.94060691_94060692del" "" "VUS" ""
"0000121045" "0" "50" "1" "94526247" "94526248" "del" "0" "01695" "ABCA4_000761" "g.94526247_94526248del" "" "{PMID:Webster 2001:11328725}" "" "2005delAT" "" "Germline" "" "" "0" "" "" "g.94060691_94060692del" "" "VUS" ""
"0000121046" "0" "50" "1" "94526247" "94526248" "del" "0" "01695" "ABCA4_000761" "g.94526247_94526248del" "" "{PMID:Webster 2001:11328725}" "" "2005delAT" "" "Germline" "" "" "0" "" "" "g.94060691_94060692del" "" "VUS" ""
"0000121047" "0" "50" "1" "94526212" "94526212" "subst" "1.22012E-5" "01695" "ABCA4_000075" "g.94526212G>A" "ExAC 3, 120836, 0, 0.00002483" "{PMID:Webster 2001:11328725}" "" "2041C>T" "" "Germline" "" "" "0" "" "" "g.94060656G>A" "" "VUS" ""
"0000121048" "0" "50" "1" "94526212" "94526212" "subst" "1.22012E-5" "01695" "ABCA4_000075" "g.94526212G>A" "ExAC 3, 120836, 0, 0.00002483" "{PMID:Webster 2001:11328725}" "" "2041C>T" "" "Germline" "" "" "0" "" "" "g.94060656G>A" "" "VUS" ""
"0000121049" "0" "50" "1" "94526106" "94526106" "subst" "2.43893E-5" "01695" "ABCA4_000750" "g.94526106G>A" "ExAC 3, 121370, 0, 0.00002472" "{PMID:Webster 2001:11328725}" "" "2147C>T" "" "Germline" "" "" "0" "" "" "g.94060550G>A" "" "VUS" ""
"0000121050" "0" "50" "1" "94522248" "94522248" "subst" "0" "01695" "ABCA4_000741" "g.94522248C>T" "" "{PMID:Webster 2001:11328725}" "" "2291G>A" "" "Germline" "" "" "0" "" "" "g.94056692C>T" "" "VUS" ""
"0000121051" "0" "50" "1" "94522245" "94522245" "subst" "0" "01695" "ABCA4_000740" "g.94522245C>T" "" "{PMID:Webster 2001:11328725}" "" "2294G>A" "" "Germline" "" "" "0" "" "" "g.94056689C>T" "" "VUS" ""
"0000121052" "0" "50" "1" "94522239" "94522239" "subst" "2.03305E-5" "01695" "ABCA4_000736" "g.94522239A>T" "ExAC 1, 119332, 0, 0.00000838" "{PMID:Webster 2001:11328725}" "" "2300T>A" "" "Germline" "" "" "0" "" "" "g.94056683A>T" "" "VUS" ""
"0000121053" "0" "50" "1" "94522239" "94522239" "subst" "2.03305E-5" "01695" "ABCA4_000736" "g.94522239A>T" "ExAC 1, 119332, 0, 0.00000838" "{PMID:Webster 2001:11328725}" "" "2300T>A" "" "Germline" "" "" "0" "" "" "g.94056683A>T" "" "VUS" ""
"0000121054" "0" "50" "1" "94520855" "94520870" "del" "0" "01695" "ABCA4_000730" "g.94520855_94520870del" "" "{PMID:Webster 2001:11328725}" "" "2385del16bp" "" "Germline" "" "" "0" "" "" "g.94055299_94055314del" "" "VUS" ""
"0000121055" "0" "50" "1" "94520801" "94520801" "subst" "0" "01695" "ABCA4_000725" "g.94520801C>A" "" "{PMID:Webster 2001:11328725}" "" "2453G>A" "" "Germline" "" "" "0" "" "" "g.94055245C>A" "" "VUS" ""
"0000121056" "0" "50" "1" "94520793" "94520793" "subst" "8.13292E-6" "01695" "ABCA4_000723" "g.94520793A>T" "ExAC 1, 121346, 0, 0.000008241" "{PMID:Webster 2001:11328725}" "" "2461T>A" "" "Germline" "" "" "0" "" "" "g.94055237A>T" "" "VUS" ""
"0000121057" "0" "50" "1" "94520708" "94520708" "subst" "0.00102774" "01695" "ABCA4_000074" "g.94520708A>G" "ExAC 162, 121382, 1, 0.001335" "{PMID:Webster 2001:11328725}" "" "2546T>C" "" "Germline" "" "" "0" "" "" "g.94055152A>G" "" "VUS" ""
"0000121058" "0" "50" "1" "94520708" "94520708" "subst" "0.00102774" "01695" "ABCA4_000074" "g.94520708A>G" "ExAC 162, 121382, 1, 0.001335" "{PMID:Webster 2001:11328725}" "" "2546T>C" "" "Germline" "" "" "0" "" "" "g.94055152A>G" "" "VUS" ""
"0000121059" "0" "50" "1" "94520708" "94520708" "subst" "0.00102774" "01695" "ABCA4_000074" "g.94520708A>G" "ExAC 162, 121382, 1, 0.001335" "{PMID:Webster 2001:11328725}" "" "2546T>C" "" "Germline" "" "" "0" "" "" "g.94055152A>G" "" "VUS" ""
"0000121060" "0" "50" "1" "94520708" "94520708" "subst" "0.00102774" "01695" "ABCA4_000074" "g.94520708A>G" "ExAC 162, 121382, 1, 0.001335" "{PMID:Webster 2001:11328725}" "" "2546T>C" "" "Germline" "" "" "0" "" "" "g.94055152A>G" "" "VUS" ""
"0000121061" "0" "50" "1" "94520702" "94520702" "subst" "0" "01695" "ABCA4_000713" "g.94520702C>T" "" "{PMID:Webster 2001:11328725}" "" "2552G>A" "" "Germline" "" "" "0" "" "" "g.94055146C>T" "" "VUS" ""
"0000121062" "0" "50" "1" "94520694" "94520694" "subst" "8.12414E-6" "01695" "ABCA4_000712" "g.94520694C>T" "" "{PMID:Webster 2001:11328725}" "" "2560G>A" "" "Germline" "" "" "0" "" "" "g.94055138C>T" "" "VUS" ""
"0000121063" "0" "50" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "ExAC 601, 118484, 2, 0.005072" "{PMID:Webster 2001:11328725}" "" "2588G>C" "" "Germline" "" "rs76157638" "0" "" "" "g.94051698C>G" "" "VUS" ""
"0000121064" "0" "50" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "ExAC 601, 118484, 2, 0.005072" "{PMID:Webster 2001:11328725}" "" "2588G>C" "" "Germline" "" "rs76157638" "0" "" "" "g.94051698C>G" "" "VUS" ""
"0000121065" "0" "50" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "ExAC 601, 118484, 2, 0.005072" "{PMID:Webster 2001:11328725}" "" "2588G>C" "" "Germline" "" "rs76157638" "0" "" "" "g.94051698C>G" "" "VUS" ""
"0000121066" "0" "50" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "ExAC 601, 118484, 2, 0.005072" "{PMID:Webster 2001:11328725}" "" "2588G>C" "" "Germline" "" "rs76157638" "0" "" "" "g.94051698C>G" "" "VUS" ""
"0000121067" "0" "50" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "ExAC 601, 118484, 2, 0.005072" "{PMID:Webster 2001:11328725}" "" "2588G>C" "" "Germline" "" "rs76157638" "0" "" "" "g.94051698C>G" "" "VUS" ""
"0000121068" "0" "50" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "ExAC 601, 118484, 2, 0.005072" "{PMID:Webster 2001:11328725}" "" "2588G>C" "" "Germline" "" "rs76157638" "0" "" "" "g.94051698C>G" "" "VUS" ""
"0000121069" "0" "50" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "ExAC 601, 118484, 2, 0.005072" "{PMID:Webster 2001:11328725}" "" "2588G>C" "" "Germline" "" "rs76157638" "0" "" "" "g.94051698C>G" "" "VUS" ""
"0000121070" "0" "50" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "ExAC 601, 118484, 2, 0.005072" "{PMID:Webster 2001:11328725}" "" "2588G>C" "" "Germline" "" "rs76157638" "0" "" "" "g.94051698C>G" "" "VUS" ""
"0000121071" "0" "50" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "ExAC 601, 118484, 2, 0.005072" "{PMID:Webster 2001:11328725}" "" "2588G>C" "" "Germline" "" "rs76157638" "0" "" "" "g.94051698C>G" "" "VUS" ""
"0000121072" "0" "50" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "ExAC 601, 118484, 2, 0.005072" "{PMID:Webster 2001:11328725}" "" "2588G>C" "" "Germline" "" "rs76157638" "0" "" "" "g.94051698C>G" "" "VUS" ""
"0000121073" "0" "50" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "ExAC 601, 118484, 2, 0.005072" "{PMID:Webster 2001:11328725}" "" "2588G>C" "" "Germline" "" "rs76157638" "0" "" "" "g.94051698C>G" "" "VUS" ""
"0000121074" "0" "50" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "ExAC 601, 118484, 2, 0.005072" "{PMID:Webster 2001:11328725}" "" "2588G>C" "" "Germline" "" "rs76157638" "0" "" "" "g.94051698C>G" "" "VUS" ""
"0000121075" "0" "50" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "ExAC 601, 118484, 2, 0.005072" "{PMID:Webster 2001:11328725}" "" "2588G>C" "" "Germline" "" "rs76157638" "0" "" "" "g.94051698C>G" "" "VUS" ""
"0000121076" "0" "50" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "ExAC 601, 118484, 2, 0.005072" "{PMID:Webster 2001:11328725}" "" "2588G>C" "" "Germline" "" "rs76157638" "0" "" "" "g.94051698C>G" "" "VUS" ""
"0000121077" "0" "50" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "ExAC 601, 118484, 2, 0.005072" "{PMID:Webster 2001:11328725}" "" "2588G>C" "" "Germline" "" "rs76157638" "0" "" "" "g.94051698C>G" "" "VUS" ""
"0000121078" "0" "50" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "ExAC 601, 118484, 2, 0.005072" "{PMID:Webster 2001:11328725}" "" "2588G>C" "" "Germline" "" "rs76157638" "0" "" "" "g.94051698C>G" "" "VUS" ""
"0000121079" "0" "50" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "ExAC 601, 118484, 2, 0.005072" "{PMID:Webster 2001:11328725}" "" "2588G>C" "" "Germline" "" "rs76157638" "0" "" "" "g.94051698C>G" "" "VUS" ""
"0000121080" "0" "50" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "ExAC 601, 118484, 2, 0.005072" "{PMID:Webster 2001:11328725}" "" "2588G>C" "" "Germline" "" "rs76157638" "0" "" "" "g.94051698C>G" "" "VUS" ""
"0000121081" "0" "50" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "ExAC 601, 118484, 2, 0.005072" "{PMID:Webster 2001:11328725}" "" "2588G>C" "" "Germline" "" "rs76157638" "0" "" "" "g.94051698C>G" "" "VUS" ""
"0000121082" "0" "50" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "ExAC 601, 118484, 2, 0.005072" "{PMID:Webster 2001:11328725}" "" "2588G>C" "" "Germline" "" "rs76157638" "0" "" "" "g.94051698C>G" "" "VUS" ""
"0000121083" "0" "50" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "ExAC 601, 118484, 2, 0.005072" "{PMID:Webster 2001:11328725}" "" "2588G>C" "" "Germline" "" "rs76157638" "0" "" "" "g.94051698C>G" "" "VUS" ""
"0000121084" "0" "50" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "ExAC 601, 118484, 2, 0.005072" "{PMID:Webster 2001:11328725}" "" "2588G>C" "" "Germline" "" "rs76157638" "0" "" "" "g.94051698C>G" "" "VUS" ""
"0000121085" "0" "50" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "ExAC 601, 118484, 2, 0.005072" "{PMID:Webster 2001:11328725}" "" "2588G>C" "" "Germline" "" "rs76157638" "0" "" "" "g.94051698C>G" "" "VUS" ""
"0000121086" "0" "50" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "ExAC 601, 118484, 2, 0.005072" "{PMID:Webster 2001:11328725}" "" "2588G>C" "" "Germline" "" "rs76157638" "0" "" "" "g.94051698C>G" "" "VUS" ""
"0000121087" "0" "50" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "ExAC 601, 118484, 2, 0.005072" "{PMID:Webster 2001:11328725}" "" "2588G>C" "" "Germline" "" "rs76157638" "0" "" "" "g.94051698C>G" "" "VUS" ""
"0000121088" "0" "50" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "ExAC 601, 118484, 2, 0.005072" "{PMID:Webster 2001:11328725}" "" "2588G>C" "" "Germline" "" "rs76157638" "0" "" "" "g.94051698C>G" "" "VUS" ""
"0000121089" "0" "50" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "ExAC 601, 118484, 2, 0.005072" "{PMID:Webster 2001:11328725}" "" "2588G>C" "" "Germline" "" "rs76157638" "0" "" "" "g.94051698C>G" "" "VUS" ""
"0000121090" "0" "50" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "ExAC 601, 118484, 2, 0.005072" "{PMID:Webster 2001:11328725}" "" "2588G>C" "" "Germline" "" "rs76157638" "0" "" "" "g.94051698C>G" "" "VUS" ""
"0000121091" "0" "50" "1" "94517225" "94517225" "subst" "8.12249E-6" "01695" "ABCA4_000703" "g.94517225A>G" "ExAC 1, 120714, 0, 0.000008284" "{PMID:Webster 2001:11328725}" "" "2617T>C" "" "Germline" "" "" "0" "" "" "g.94051669A>G" "" "VUS" ""
"0000121092" "0" "50" "1" "94514477" "94514477" "subst" "0.00118992" "01695" "ABCA4_000700" "g.94514477G>A" "ExAC 138, 121252, 1, 0.001138" "{PMID:Webster 2001:11328725}" "" "2690C>T" "" "Germline" "" "" "0" "" "" "g.94048921G>A" "" "VUS" ""
"0000121093" "0" "50" "1" "94514466" "94514466" "subst" "0.00192081" "01695" "ABCA4_000008" "g.94514466T>C" "ExAC 212, 121284, 0, 0.001748" "{PMID:Webster 2001:11328725}" "" "2701A>G" "" "Germline" "" "" "0" "" "" "g.94048910T>C" "" "VUS" ""
"0000121094" "0" "50" "1" "94512510" "94512510" "del" "0" "01695" "ABCA4_000119" "g.94512510del" "" "{PMID:Webster 2001:11328725}" "" "2883delC" "" "Germline" "" "" "0" "" "" "g.94046954del" "" "VUS" ""
"0000121095" "0" "50" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "ExAC 21, 121302, 0, 0.0001731" "{PMID:Webster 2001:11328725}" "" "2894A>G" "" "Germline" "" "" "0" "" "" "g.94046943T>C" "" "VUS" ""
"0000121096" "0" "50" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "ExAC 21, 121302, 0, 0.0001731" "{PMID:Webster 2001:11328725}" "" "2894A>G" "" "Germline" "" "" "0" "" "" "g.94046943T>C" "" "VUS" ""
"0000121097" "0" "50" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "ExAC 21, 121302, 0, 0.0001731" "{PMID:Webster 2001:11328725}" "" "2894A>G" "" "Germline" "" "" "0" "" "" "g.94046943T>C" "" "VUS" ""
"0000121098" "0" "50" "1" "94512481" "94512481" "subst" "4.06524E-6" "01695" "ABCA4_000679" "g.94512481G>T" "" "{PMID:Webster 2001:11328725}" "" "2912C>A" "" "Germline" "" "" "0" "" "" "g.94046925G>T" "" "VUS" ""
"0000121099" "0" "50" "1" "94512478" "94512478" "subst" "3.65871E-5" "01695" "ABCA4_000678" "g.94512478G>T" "ExAC 7, 121308, 0, 0.0000577" "{PMID:Webster 2001:11328725}" "" "2915C>A" "" "Germline" "" "" "0" "" "" "g.94046922G>T" "" "VUS" ""
"0000121100" "0" "50" "1" "94510299" "94510299" "subst" "4.06072E-6" "01695" "ABCA4_000674" "g.94510299A>G" "ExAC 1, 121404, 0, 0.000008237" "{PMID:Webster 2001:11328725}" "" "2920T>C" "" "Germline" "" "" "0" "" "" "g.94044743A>G" "" "VUS" ""
"0000121101" "0" "50" "1" "94510253" "94510253" "subst" "0.000247694" "01695" "ABCA4_000108" "g.94510253A>G" "ExAC 36, 121412, 0, 0.0002965" "{PMID:Webster 2001:11328725}" "" "2966T>C" "" "Germline" "" "" "0" "" "" "g.94044697A>G" "" "VUS" ""
"0000121102" "0" "50" "1" "94510235" "94510242" "del" "0" "01695" "ABCA4_000667" "g.94510235_94510242del" "" "{PMID:Webster 2001:11328725}" "" "2977del8bp" "" "Germline" "" "" "0" "" "" "g.94044679_94044686del" "" "VUS" ""
"0000121103" "0" "50" "1" "94510253" "94510253" "subst" "0.000247694" "01695" "ABCA4_000108" "g.94510253A>G" "ExAC 36, 121412, 0, 0.0002965" "{PMID:Webster 2001:11328725}" "" "2966T>C" "" "Germline" "" "" "0" "" "" "g.94044697A>G" "" "VUS" ""
"0000121104" "0" "50" "1" "94510178" "94510178" "subst" "0" "01695" "ABCA4_000664" "g.94510178A>C" "" "{PMID:Webster 2001:11328725}" "" "3041T>G" "" "Germline" "" "" "0" "" "" "g.94044622A>C" "" "VUS" ""
"0000121105" "0" "50" "1" "94509027" "94509027" "subst" "4.06478E-6" "01695" "ABCA4_000661" "g.94509027T>C" "" "{PMID:Webster 2001:11328725}" "" "3055A>G" "" "Germline" "" "" "0" "" "" "g.94043471T>C" "" "VUS" ""
"0000121106" "0" "50" "1" "94509018" "94509018" "subst" "8.12869E-6" "01695" "ABCA4_000659" "g.94509018C>T" "ExAC 1, 121086, 0, 0.000008259" "{PMID:Webster 2001:11328725}" "" "3064G>A" "" "Germline" "" "" "0" "" "" "g.94043462C>T" "" "VUS" ""
"0000121107" "0" "50" "1" "94508991" "94508991" "subst" "0" "01695" "ABCA4_000656" "g.94508991T>C" "" "{PMID:Webster 2001:11328725}" "" "3091A>G" "" "Germline" "" "" "0" "" "" "g.94043435T>C" "" "VUS" ""
"0000121108" "0" "50" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "ExAC 173, 121304, 0, 0.001426" "{PMID:Webster 2001:11328725}" "" "3113G>T" "" "Germline" "" "" "0" "" "" "g.94043413G>A" "" "VUS" ""
"0000121109" "0" "50" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "ExAC 173, 121304, 0, 0.001426" "{PMID:Webster 2001:11328725}" "" "3113G>T" "" "Germline" "" "" "0" "" "" "g.94043413G>A" "" "VUS" ""
"0000121110" "0" "50" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "ExAC 173, 121304, 0, 0.001426" "{PMID:Webster 2001:11328725}" "" "3113G>T" "" "Germline" "" "" "0" "" "" "g.94043413G>A" "" "VUS" ""
"0000121111" "0" "50" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "ExAC 173, 121304, 0, 0.001426" "{PMID:Webster 2001:11328725}" "" "3113G>T" "" "Germline" "" "" "0" "" "" "g.94043413G>A" "" "VUS" ""
"0000121112" "0" "50" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "ExAC 173, 121304, 0, 0.001426" "{PMID:Webster 2001:11328725}" "" "3113G>T" "" "Germline" "" "" "0" "" "" "g.94043413G>A" "" "VUS" ""
"0000121113" "0" "50" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "ExAC 173, 121304, 0, 0.001426" "{PMID:Webster 2001:11328725}" "" "3113G>T" "" "Germline" "" "" "0" "" "" "g.94043413G>A" "" "VUS" ""
"0000121114" "0" "50" "1" "94508440" "94508441" "dup" "0" "01695" "ABCA4_000646" "g.94508440_94508441dup" "" "{PMID:Webster 2001:11328725}" "" "3205insAA" "" "Germline" "" "" "0" "" "" "g.94042884_94042885dup" "" "VUS" ""
"0000121115" "0" "50" "1" "94508384" "94508384" "subst" "0" "01695" "ABCA4_000641" "g.94508384T>G" "" "{PMID:Webster 2001:11328725}" "" "3261G>A" "" "Germline" "" "" "0" "" "" "g.94042828T>G" "" "VUS" ""
"0000121116" "0" "50" "1" "94508384" "94508384" "subst" "0" "01695" "ABCA4_000641" "g.94508384T>G" "" "{PMID:Webster 2001:11328725}" "" "3261G>A" "" "Germline" "" "" "0" "" "" "g.94042828T>G" "" "VUS" ""
"0000121117" "0" "50" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "ExAC 14, 121282, 0, 0.0001154" "{PMID:Webster 2001:11328725}" "" "3322C>T" "" "Germline" "" "" "0" "" "" "g.94042767G>A" "" "VUS" ""
"0000121118" "0" "50" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "ExAC 14, 121282, 0, 0.0001154" "{PMID:Webster 2001:11328725}" "" "3322C>T" "" "Germline" "" "" "0" "" "" "g.94042767G>A" "" "VUS" ""
"0000121119" "0" "50" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "ExAC 14, 121282, 0, 0.0001154" "{PMID:Webster 2001:11328725}" "" "3322C>T" "" "Germline" "" "" "0" "" "" "g.94042767G>A" "" "VUS" ""
"0000121120" "0" "50" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "ExAC 14, 121282, 0, 0.0001154" "{PMID:Webster 2001:11328725}" "" "3322C>T" "" "Germline" "" "" "0" "" "" "g.94042767G>A" "" "VUS" ""
"0000121121" "0" "50" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "ExAC 14, 121282, 0, 0.0001154" "{PMID:Webster 2001:11328725}" "" "3322C>T" "" "Germline" "" "" "0" "" "" "g.94042767G>A" "" "VUS" ""
"0000121122" "0" "50" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "ExAC 14, 121282, 0, 0.0001154" "{PMID:Webster 2001:11328725}" "" "3322C>T" "" "Germline" "" "" "0" "" "" "g.94042767G>A" "" "VUS" ""
"0000121123" "0" "50" "1" "94508322" "94508322" "subst" "1.62513E-5" "01695" "ABCA4_000128" "g.94508322C>T" "ExAC 2, 121288, 0, 0.00001649" "{PMID:Webster 2001:11328725}" "" "3323G>A" "" "Germline" "" "" "0" "" "" "g.94042766C>T" "" "VUS" ""
"0000121124" "0" "50" "1" "94506923" "94506923" "subst" "2.43657E-5" "01695" "ABCA4_000012" "g.94506923C>T" "ExAC 3, 121394, 0, 0.00002471" "{PMID:Webster 2001:11328725}" "" "3364G>A" "" "Germline" "" "" "0" "" "" "g.94041367C>T" "" "VUS" ""
"0000121125" "0" "50" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "ExAC 30, 121388, 0, 0.0002471" "{PMID:Webster 2001:11328725}" "" "3386G>T" "" "Germline" "" "" "0" "" "" "g.94041345C>A" "" "VUS" ""
"0000121126" "0" "50" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "ExAC 30, 121388, 0, 0.0002471" "{PMID:Webster 2001:11328725}" "" "3386G>T" "" "Germline" "" "" "0" "" "" "g.94041345C>A" "" "VUS" ""
"0000121127" "0" "50" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "ExAC 30, 121388, 0, 0.0002471" "{PMID:Webster 2001:11328725}" "" "3386G>T" "" "Germline" "" "" "0" "" "" "g.94041345C>A" "" "VUS" ""
"0000121128" "0" "50" "1" "94505675" "94505675" "subst" "0" "01695" "ABCA4_000610" "g.94505675G>T" "" "{PMID:Webster 2001:11328725}" "" "3531C>A" "" "Germline" "" "" "0" "" "" "g.94040119G>T" "" "VUS" ""
"0000121129" "0" "50" "1" "94502765" "94502765" "subst" "0" "01695" "ABCA4_000600" "g.94502765A>G" "" "{PMID:Webster 2001:11328725}" "" "3749T>C" "" "Germline" "" "" "0" "" "" "g.94037209A>G" "" "VUS" ""
"0000121130" "0" "50" "1" "94502318" "94502323" "del" "0" "01695" "ABCA4_000591" "g.94502318_94502323del" "" "{PMID:Webster 2001:11328725}" "" "3835delGATTCT" "" "Germline" "" "" "0" "" "" "g.94036762_94036767del" "" "VUS" ""
"0000121131" "0" "50" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "ExAC 24, 119274, 0, 0.0002012" "{PMID:Webster 2001:11328725}" "" "4139C>T" "" "Germline" "" "" "0" "" "" "g.94031110G>A" "" "VUS" ""
"0000121132" "0" "50" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "ExAC 24, 119274, 0, 0.0002012" "{PMID:Webster 2001:11328725}" "" "4139C>T" "" "Germline" "" "" "0" "" "" "g.94031110G>A" "" "VUS" ""
"0000121133" "0" "50" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "ExAC 24, 119274, 0, 0.0002012" "{PMID:Webster 2001:11328725}" "" "4139C>T" "" "Germline" "" "" "0" "" "" "g.94031110G>A" "" "VUS" ""
"0000121134" "0" "50" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "ExAC 24, 119274, 0, 0.0002012" "{PMID:Webster 2001:11328725}" "" "4139C>T" "" "Germline" "" "" "0" "" "" "g.94031110G>A" "" "VUS" ""
"0000121135" "0" "50" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "ExAC 24, 119274, 0, 0.0002012" "{PMID:Webster 2001:11328725}" "" "4139C>T" "" "Germline" "" "" "0" "" "" "g.94031110G>A" "" "VUS" ""
"0000121136" "0" "50" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "ExAC 24, 119274, 0, 0.0002012" "{PMID:Webster 2001:11328725}" "" "4139C>T" "" "Germline" "" "" "0" "" "" "g.94031110G>A" "" "VUS" ""
"0000121137" "0" "50" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "ExAC 24, 119274, 0, 0.0002012" "{PMID:Webster 2001:11328725}" "" "4139C>T" "" "Germline" "" "" "0" "" "" "g.94031110G>A" "" "VUS" ""
"0000121138" "0" "50" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "ExAC 24, 119274, 0, 0.0002012" "{PMID:Webster 2001:11328725}" "" "4139C>T" "" "Germline" "" "" "0" "" "" "g.94031110G>A" "" "VUS" ""
"0000121139" "0" "50" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "ExAC 24, 119274, 0, 0.0002012" "{PMID:Webster 2001:11328725}" "" "4139C>T" "" "Germline" "" "" "0" "" "" "g.94031110G>A" "" "VUS" ""
"0000121140" "0" "50" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "ExAC 24, 119274, 0, 0.0002012" "{PMID:Webster 2001:11328725}" "" "4139C>T" "" "Germline" "" "" "0" "" "" "g.94031110G>A" "" "VUS" ""
"0000121141" "0" "50" "1" "94496583" "94496583" "subst" "2.03092E-5" "01695" "ABCA4_000190" "g.94496583A>G" "ExAC 1, 120898, 0, 0.000008271" "{PMID:Webster 2001:11328725}" "" "4222T>C" "" "Germline" "" "" "0" "" "" "g.94031027A>G" "" "VUS" ""
"0000121142" "0" "50" "1" "94496583" "94496583" "subst" "2.03092E-5" "01695" "ABCA4_000190" "g.94496583A>G" "ExAC 1, 120898, 0, 0.000008271" "{PMID:Webster 2001:11328725}" "" "4222T>C" "" "Germline" "" "" "0" "" "" "g.94031027A>G" "" "VUS" ""
"0000121143" "0" "50" "1" "94496582" "94496582" "subst" "0" "01695" "ABCA4_000089" "g.94496582C>A" "" "{PMID:Webster 2001:11328725}" "" "4223G>T" "" "Germline" "" "" "0" "" "" "g.94031026C>A" "" "VUS" ""
"0000121144" "0" "50" "1" "94496582" "94496582" "subst" "0" "01695" "ABCA4_000089" "g.94496582C>A" "" "{PMID:Webster 2001:11328725}" "" "4223G>T" "" "Germline" "" "" "0" "" "" "g.94031026C>A" "" "VUS" ""
"0000121145" "0" "50" "1" "94496571" "94496571" "subst" "4.06174E-6" "01695" "ABCA4_000111" "g.94496571G>A" "" "{PMID:Webster 2001:11328725}" "" "4234C>T" "" "Germline" "" "" "0" "" "" "g.94031015G>A" "" "VUS" ""
"0000121146" "0" "50" "1" "94496017" "94496017" "subst" "4.06075E-6" "01695" "ABCA4_000130" "g.94496017A>G" "" "{PMID:Webster 2001:11328725}" "" "4319T>C" "" "Germline" "" "" "0" "" "" "g.94030461A>G" "" "VUS" ""
"0000121147" "0" "50" "1" "94495188" "94495188" "subst" "0" "01695" "ABCA4_000546" "g.94495188C>A" "" "{PMID:Webster 2001:11328725}" "" "4353-1g>t" "" "Germline" "" "" "0" "" "" "g.94029632C>A" "" "VUS" ""
"0000121148" "0" "50" "1" "94495083" "94495083" "subst" "0.000124542" "01695" "ABCA4_000542" "g.94495083G>A" "ExAC 11, 77176, 0, 0.0001425" "{PMID:Webster 2001:11328725}" "" "4457C>T" "" "Germline" "" "" "0" "" "" "g.94029527G>A" "" "VUS" ""
"0000121149" "0" "50" "1" "94495078" "94495078" "subst" "8.37044E-6" "01695" "ABCA4_000042" "g.94495078A>G" "ExAC 1, 70400, 0, 0.0000142" "{PMID:Webster 2001:11328725}" "" "4462T>C" "" "Germline" "" "" "0" "" "" "g.94029522A>G" "" "VUS" ""
"0000121150" "0" "50" "1" "94495078" "94495078" "subst" "8.37044E-6" "01695" "ABCA4_000042" "g.94495078A>G" "ExAC 1, 70400, 0, 0.0000142" "{PMID:Webster 2001:11328725}" "" "4462T>C" "" "Germline" "" "" "0" "" "" "g.94029522A>G" "" "VUS" ""
"0000121151" "0" "50" "1" "94495078" "94495078" "subst" "8.37044E-6" "01695" "ABCA4_000042" "g.94495078A>G" "ExAC 1, 70400, 0, 0.0000142" "{PMID:Webster 2001:11328725}" "" "4462T>C" "" "Germline" "" "" "0" "" "" "g.94029522A>G" "" "VUS" ""
"0000121152" "0" "50" "1" "94495077" "94495077" "subst" "8.39461E-6" "01695" "ABCA4_000541" "g.94495077C>A" "ExAC 1, 68804, 0, 0.00001453" "{PMID:Webster 2001:11328725}" "" "4463G>T" "" "Germline" "" "" "0" "" "" "g.94029521C>A" "" "VUS" ""
"0000121153" "0" "50" "1" "94495077" "94495077" "subst" "8.39461E-6" "01695" "ABCA4_000541" "g.94495077C>A" "ExAC 1, 68804, 0, 0.00001453" "{PMID:Webster 2001:11328725}" "" "4463G>T" "" "Germline" "" "" "0" "" "" "g.94029521C>A" "" "VUS" ""
"0000121154" "0" "50" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "ExAC 12, 60116, 0, 0.0001996" "{PMID:Webster 2001:11328725}" "" "4469G>A" "" "Germline" "" "" "0" "" "" "g.94029515C>T" "" "VUS" ""
"0000121155" "0" "50" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "ExAC 12, 60116, 0, 0.0001996" "{PMID:Webster 2001:11328725}" "" "4469G>A" "" "Germline" "" "" "0" "" "" "g.94029515C>T" "" "VUS" ""
"0000121156" "0" "50" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "ExAC 12, 60116, 0, 0.0001996" "{PMID:Webster 2001:11328725}" "" "4469G>A" "" "Germline" "" "" "0" "" "" "g.94029515C>T" "" "VUS" ""
"0000121157" "0" "50" "1" "94495009" "94495009" "dup" "0" "01695" "ABCA4_000087" "g.94495009dup" "" "{PMID:Webster 2001:11328725}" "" "4531insC" "" "Germline" "" "" "0" "" "" "g.94029453dup" "" "VUS" ""
"0000121158" "0" "50" "1" "94495009" "94495009" "dup" "0" "01695" "ABCA4_000087" "g.94495009dup" "" "{PMID:Webster 2001:11328725}" "" "4531insC" "" "Germline" "" "" "0" "" "" "g.94029453dup" "" "VUS" ""
"0000121159" "0" "50" "1" "94495002" "94495002" "subst" "0" "01695" "ABCA4_000533" "g.94495002T>C" "" "{PMID:Webster 2001:11328725}" "" "4538A>G" "" "Germline" "" "" "0" "" "" "g.94029446T>C" "" "VUS" ""
"0000121160" "0" "50" "1" "94495000" "94495000" "subst" "0" "01695" "ABCA4_000164" "g.94495000C>A" "" "{PMID:Webster 2001:11328725}" "" "4539 + 1g>t" "" "Germline" "" "" "0" "" "" "g.94029444C>A" "" "VUS" ""
"0000121161" "0" "50" "1" "94490570" "94490570" "subst" "0" "01695" "ABCA4_000525" "g.94490570A>G" "" "{PMID:Webster 2001:11328725}" "" "4574T>C" "" "Germline" "" "" "0" "" "" "g.94025014A>G" "" "VUS" ""
"0000121162" "0" "50" "1" "94487438" "94487441" "del" "0" "01695" "ABCA4_000502" "g.94487438_94487441del" "" "{PMID:Webster 2001:11328725}" "" "4733delGTTT" "" "Germline" "" "" "0" "" "" "g.94021882_94021885del" "" "VUS" ""
"0000121163" "0" "50" "1" "94486950" "94486955" "delins" "0" "01695" "ABCA4_000192" "g.94486950_94486955delinsAGGA" "" "{PMID:Webster 2001:11328725}" "" "4859delATAACAinsTCCT" "" "Germline" "" "" "0" "" "" "g.94021394_94021399delinsAGGA" "" "VUS" ""
"0000121164" "0" "50" "1" "94486905" "94486905" "subst" "0.000105614" "01695" "ABCA4_000485" "g.94486905C>T" "ExAC 10, 121382, 0, 0.00008238" "{PMID:Webster 2001:11328725}" "" "4909G>A" "" "Germline" "" "" "0" "" "" "g.94021349C>T" "" "VUS" ""
"0000121165" "0" "50" "1" "94486896" "94486896" "subst" "3.65562E-5" "01695" "ABCA4_000085" "g.94486896G>A" "ExAC 1, 121394, 0, 0.000008238" "{PMID:Webster 2001:11328725}" "" "4918C>T" "" "Germline" "" "" "0" "" "" "g.94021340G>A" "" "VUS" ""
"0000121166" "0" "50" "1" "94486895" "94486895" "subst" "3.24923E-5" "01695" "ABCA4_000484" "g.94486895C>T" "ExAC 7, 121398, 0, 0.00005766" "{PMID:Webster 2001:11328725}" "" "4919G>A" "" "Germline" "" "" "0" "" "" "g.94021339C>T" "" "VUS" ""
"0000121167" "0" "50" "1" "94486860" "94486860" "subst" "0" "01695" "ABCA4_000153" "g.94486860A>C" "" "{PMID:Webster 2001:11328725}" "" "4954T>G" "" "Germline" "" "" "0" "" "" "g.94021304A>C" "" "VUS" ""
"0000121168" "0" "50" "1" "94485257" "94485257" "subst" "0.00017945" "01695" "ABCA4_000100" "g.94485257C>T" "ExAC 26, 109132, 0, 0.0002382" "{PMID:Webster 2001:11328725}" "" "5077G>A" "" "Germline" "" "" "0" "" "" "g.94019701C>T" "" "VUS" ""
"0000121169" "0" "50" "1" "94485148" "94485148" "subst" "4.27562E-6" "01695" "ABCA4_000099" "g.94485148A>G" "" "{PMID:Webster 2001:11328725}" "" "5186T>C" "" "Germline" "" "" "0" "" "" "g.94019592A>G" "" "VUS" ""
"0000121170" "0" "50" "1" "94485148" "94485148" "subst" "4.27562E-6" "01695" "ABCA4_000099" "g.94485148A>G" "" "{PMID:Webster 2001:11328725}" "" "5186T>C" "" "Germline" "" "" "0" "" "" "g.94019592A>G" "" "VUS" ""
"0000121171" "0" "50" "1" "94481401" "94481401" "subst" "4.09199E-6" "01695" "ABCA4_000460" "g.94481401A>G" "ExAC 1, 104532, 0, 0.000009566" "{PMID:Webster 2001:11328725}" "" "5206T>C" "" "Germline" "" "" "0" "" "" "g.94015845A>G" "" "VUS" ""
"0000121172" "0" "50" "1" "94481385" "94481395" "del" "0" "01695" "ABCA4_000459" "g.94481385_94481395del" "" "{PMID:Webster 2001:11328725}" "" "5212del11bp" "" "Germline" "" "" "0" "" "" "g.94015829_94015839del" "" "VUS" ""
"0000121173" "0" "50" "1" "94481380" "94481390" "del" "0" "01695" "ABCA4_000458" "g.94481380_94481390del" "" "{PMID:Webster 2001:11328725}" "" "5225delTGGTGGTGGGC" "" "Germline" "" "" "0" "" "" "g.94015824_94015834del" "" "VUS" ""
"0000121174" "0" "50" "1" "94481322" "94481330" "del" "0" "01695" "ABCA4_000453" "g.94481322_94481330del" "" "{PMID:Webster 2001:11328725}" "" "5278del9bp" "" "Germline" "" "" "0" "" "" "g.94015766_94015774del" "" "VUS" ""
"0000121175" "0" "50" "1" "94481319" "94481319" "del" "0" "01695" "ABCA4_000098" "g.94481319del" "" "{PMID:Webster 2001:11328725}" "" "5288delG" "" "Germline" "" "" "0" "" "" "g.94015763del" "" "VUS" ""
"0000121176" "0" "50" "1" "94480164" "94480164" "subst" "0" "01695" "ABCA4_000440" "g.94480164T>C" "" "{PMID:Webster 2001:11328725}" "" "5395A>G" "" "Germline" "" "" "0" "" "" "g.94014608T>C" "" "VUS" ""
"0000121177" "0" "50" "1" "94480108" "94480108" "subst" "0" "01695" "ABCA4_000439" "g.94480108C>A" "" "{PMID:Webster 2001:11328725}" "" "5451T>G" "" "Germline" "" "" "0" "" "" "g.94014552C>A" "" "VUS" ""
"0000121178" "0" "50" "1" "94480108" "94480108" "subst" "0" "01695" "ABCA4_000439" "g.94480108C>A" "" "{PMID:Webster 2001:11328725}" "" "5451T>G" "" "Germline" "" "" "0" "" "" "g.94014552C>A" "" "VUS" ""
"0000121179" "0" "50" "1" "94480108" "94480108" "subst" "0" "01695" "ABCA4_000439" "g.94480108C>A" "" "{PMID:Webster 2001:11328725}" "" "5451T>G" "" "Germline" "" "" "0" "" "" "g.94014552C>A" "" "VUS" ""
"0000121180" "0" "50" "1" "94480108" "94480108" "subst" "0" "01695" "ABCA4_000439" "g.94480108C>A" "" "{PMID:Webster 2001:11328725}" "" "5451T>G" "" "Germline" "" "" "0" "" "" "g.94014552C>A" "" "VUS" ""
"0000121181" "0" "50" "1" "94476813" "94476813" "subst" "0" "01695" "ABCA4_000426" "g.94476813C>T" "" "{PMID:Webster 2001:11328725}" "" "5584 + 5g>a" "" "Germline" "" "" "0" "" "" "g.94011257C>T" "" "VUS" ""
"0000121182" "0" "50" "1" "94476813" "94476813" "subst" "0" "01695" "ABCA4_000426" "g.94476813C>T" "" "{PMID:Webster 2001:11328725}" "" "5584 + 5g>a" "" "Germline" "" "" "0" "" "" "g.94011257C>T" "" "VUS" ""
"0000121183" "0" "50" "1" "94476813" "94476813" "subst" "0" "01695" "ABCA4_000426" "g.94476813C>T" "" "{PMID:Webster 2001:11328725}" "" "5584 + 5g>a" "" "Germline" "" "" "0" "" "" "g.94011257C>T" "" "VUS" ""
"0000121184" "0" "50" "1" "94476813" "94476813" "subst" "0" "01695" "ABCA4_000426" "g.94476813C>T" "" "{PMID:Webster 2001:11328725}" "" "5584 + 5g>a" "" "Germline" "" "" "0" "" "" "g.94011257C>T" "" "VUS" ""
"0000121185" "0" "50" "1" "94476813" "94476813" "subst" "0" "01695" "ABCA4_000426" "g.94476813C>T" "" "{PMID:Webster 2001:11328725}" "" "5584 + 5g>a" "" "Germline" "" "" "0" "" "" "g.94011257C>T" "" "VUS" ""
"0000121186" "0" "50" "1" "94476813" "94476813" "subst" "0" "01695" "ABCA4_000426" "g.94476813C>T" "" "{PMID:Webster 2001:11328725}" "" "5584 + 5g>a" "" "Germline" "" "" "0" "" "" "g.94011257C>T" "" "VUS" ""
"0000121187" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "ExAC 5406, 121330, 156, 0.04456" "{PMID:Webster 2001:11328725}" "" "5603A>T" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000121188" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "ExAC 5406, 121330, 156, 0.04456" "{PMID:Webster 2001:11328725}" "" "5603A>T" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000121189" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "ExAC 5406, 121330, 156, 0.04456" "{PMID:Webster 2001:11328725}" "" "5603A>T" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000121190" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "ExAC 5406, 121330, 156, 0.04456" "{PMID:Webster 2001:11328725}" "" "5603A>T" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000121191" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "ExAC 5406, 121330, 156, 0.04456" "{PMID:Webster 2001:11328725}" "" "5603A>T" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000121192" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "ExAC 5406, 121330, 156, 0.04456" "{PMID:Webster 2001:11328725}" "" "5603A>T" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000121193" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "ExAC 5406, 121330, 156, 0.04456" "{PMID:Webster 2001:11328725}" "" "5603A>T" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000121194" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "ExAC 5406, 121330, 156, 0.04456" "{PMID:Webster 2001:11328725}" "" "5603A>T" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000121195" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "ExAC 5406, 121330, 156, 0.04456" "{PMID:Webster 2001:11328725}" "" "5603A>T" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000121196" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "ExAC 5406, 121330, 156, 0.04456" "{PMID:Webster 2001:11328725}" "" "5603A>T" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000121197" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "ExAC 5406, 121330, 156, 0.04456" "{PMID:Webster 2001:11328725}" "" "5603A>T" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000121198" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "ExAC 5406, 121330, 156, 0.04456" "{PMID:Webster 2001:11328725}" "" "5603A>T" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000121199" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "ExAC 5406, 121330, 156, 0.04456" "{PMID:Webster 2001:11328725}" "" "5603A>T" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000121200" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "ExAC 5406, 121330, 156, 0.04456" "{PMID:Webster 2001:11328725}" "" "5603A>T" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000121201" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "ExAC 5406, 121330, 156, 0.04456" "{PMID:Webster 2001:11328725}" "" "5603A>T" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000121202" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "ExAC 5406, 121330, 156, 0.04456" "{PMID:Webster 2001:11328725}" "" "5603A>T" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000121203" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "ExAC 5406, 121330, 156, 0.04456" "{PMID:Webster 2001:11328725}" "" "5603A>T" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000121204" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "ExAC 5406, 121330, 156, 0.04456" "{PMID:Webster 2001:11328725}" "" "5603A>T" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000121205" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "ExAC 5406, 121330, 156, 0.04456" "{PMID:Webster 2001:11328725}" "" "5603A>T" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000121206" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "ExAC 5406, 121330, 156, 0.04456" "{PMID:Webster 2001:11328725}" "" "5603A>T" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000121207" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "ExAC 5406, 121330, 156, 0.04456" "{PMID:Webster 2001:11328725}" "" "5603A>T" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000121208" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "ExAC 5406, 121330, 156, 0.04456" "{PMID:Webster 2001:11328725}" "" "5603A>T" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000121209" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "ExAC 5406, 121330, 156, 0.04456" "{PMID:Webster 2001:11328725}" "" "5603A>T" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000121210" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "ExAC 5406, 121330, 156, 0.04456" "{PMID:Webster 2001:11328725}" "" "5603A>T" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000121211" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "ExAC 5406, 121330, 156, 0.04456" "{PMID:Webster 2001:11328725}" "" "5603A>T" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000121212" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "ExAC 5406, 121330, 156, 0.04456" "{PMID:Webster 2001:11328725}" "" "5603A>T" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000121213" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "ExAC 5406, 121330, 156, 0.04456" "{PMID:Webster 2001:11328725}" "" "5603A>T" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000121214" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "ExAC 5406, 121330, 156, 0.04456" "{PMID:Webster 2001:11328725}" "" "5603A>T" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000121215" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "ExAC 5406, 121330, 156, 0.04456" "{PMID:Webster 2001:11328725}" "" "5603A>T" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000121216" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "ExAC 5406, 121330, 156, 0.04456" "{PMID:Webster 2001:11328725}" "" "5603A>T" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000121217" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "ExAC 5406, 121330, 156, 0.04456" "{PMID:Webster 2001:11328725}" "" "5603A>T" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000121218" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "ExAC 5406, 121330, 156, 0.04456" "{PMID:Webster 2001:11328725}" "" "5603A>T" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000121219" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "ExAC 5406, 121330, 156, 0.04456" "{PMID:Webster 2001:11328725}" "" "5603A>T" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000121220" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "ExAC 5406, 121330, 156, 0.04456" "{PMID:Webster 2001:11328725}" "" "5603A>T" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000121221" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "ExAC 5406, 121330, 156, 0.04456" "{PMID:Webster 2001:11328725}" "" "5603A>T" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000121222" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "ExAC 5406, 121330, 156, 0.04456" "{PMID:Webster 2001:11328725}" "" "5603A>T" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000121223" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "ExAC 5406, 121330, 156, 0.04456" "{PMID:Webster 2001:11328725}" "" "5603A>T" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000121224" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "ExAC 5406, 121330, 156, 0.04456" "{PMID:Webster 2001:11328725}" "" "5603A>T" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000121225" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "ExAC 5406, 121330, 156, 0.04456" "{PMID:Webster 2001:11328725}" "" "5603A>T" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000121226" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "ExAC 5406, 121330, 156, 0.04456" "{PMID:Webster 2001:11328725}" "" "5603A>T" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000121227" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "ExAC 5406, 121330, 156, 0.04456" "{PMID:Webster 2001:11328725}" "" "5603A>T" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000121228" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "ExAC 5406, 121330, 156, 0.04456" "{PMID:Webster 2001:11328725}" "" "5603A>T" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000121229" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "ExAC 5406, 121330, 156, 0.04456" "{PMID:Webster 2001:11328725}" "" "5603A>T" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000121230" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "ExAC 5406, 121330, 156, 0.04456" "{PMID:Webster 2001:11328725}" "" "5603A>T" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000121231" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "ExAC 5406, 121330, 156, 0.04456" "{PMID:Webster 2001:11328725}" "" "5603A>T" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000121232" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "ExAC 5406, 121330, 156, 0.04456" "{PMID:Webster 2001:11328725}" "" "5603A>T" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000121233" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "ExAC 5406, 121330, 156, 0.04456" "{PMID:Webster 2001:11328725}" "" "5603A>T" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000121234" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "ExAC 5406, 121330, 156, 0.04456" "{PMID:Webster 2001:11328725}" "" "5603A>T" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000121235" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "ExAC 5406, 121330, 156, 0.04456" "{PMID:Webster 2001:11328725}" "" "5603A>T" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000121236" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "ExAC 5406, 121330, 156, 0.04456" "{PMID:Webster 2001:11328725}" "" "5603A>T" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000121237" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "ExAC 5406, 121330, 156, 0.04456" "{PMID:Webster 2001:11328725}" "" "5603A>T" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000121238" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "ExAC 5406, 121330, 156, 0.04456" "{PMID:Webster 2001:11328725}" "" "5603A>T" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000121239" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "ExAC 5406, 121330, 156, 0.04456" "{PMID:Webster 2001:11328725}" "" "5603A>T" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000121240" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "ExAC 5406, 121330, 156, 0.04456" "{PMID:Webster 2001:11328725}" "" "5603A>T" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000121241" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "ExAC 5406, 121330, 156, 0.04456" "{PMID:Webster 2001:11328725}" "" "5603A>T" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000121242" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "ExAC 5406, 121330, 156, 0.04456" "{PMID:Webster 2001:11328725}" "" "5603A>T" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000121243" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "ExAC 5406, 121330, 156, 0.04456" "{PMID:Webster 2001:11328725}" "" "5603A>T" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000121244" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "ExAC 5406, 121330, 156, 0.04456" "{PMID:Webster 2001:11328725}" "" "5603A>T" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000121245" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "ExAC 5406, 121330, 156, 0.04456" "{PMID:Webster 2001:11328725}" "" "5603A>T" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000121246" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "ExAC 5406, 121330, 156, 0.04456" "{PMID:Webster 2001:11328725}" "" "5603A>T" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000121247" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "ExAC 5406, 121330, 156, 0.04456" "{PMID:Webster 2001:11328725}" "" "5603A>T" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000121248" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "ExAC 5406, 121330, 156, 0.04456" "{PMID:Webster 2001:11328725}" "" "5603A>T" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000121249" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "ExAC 5406, 121330, 156, 0.04456" "{PMID:Webster 2001:11328725}" "" "5603A>T" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000121250" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "ExAC 5406, 121330, 156, 0.04456" "{PMID:Webster 2001:11328725}" "" "5603A>T" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000121251" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "ExAC 5406, 121330, 156, 0.04456" "{PMID:Webster 2001:11328725}" "" "5603A>T" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000121252" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "ExAC 5406, 121330, 156, 0.04456" "{PMID:Webster 2001:11328725}" "" "5603A>T" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000121253" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "ExAC 5406, 121330, 156, 0.04456" "{PMID:Webster 2001:11328725}" "" "5603A>T" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000121254" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "ExAC 5406, 121330, 156, 0.04456" "{PMID:Webster 2001:11328725}" "" "5603A>T" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000121255" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "ExAC 5406, 121330, 156, 0.04456" "{PMID:Webster 2001:11328725}" "" "5603A>T" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000121256" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "ExAC 5406, 121330, 156, 0.04456" "{PMID:Webster 2001:11328725}" "" "5603A>T" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000121257" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "ExAC 5406, 121330, 156, 0.04456" "{PMID:Webster 2001:11328725}" "" "5603A>T" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000121258" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "ExAC 5406, 121330, 156, 0.04456" "{PMID:Webster 2001:11328725}" "" "5603A>T" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000121259" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "ExAC 5406, 121330, 156, 0.04456" "{PMID:Webster 2001:11328725}" "" "5603A>T" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000121260" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "ExAC 5406, 121330, 156, 0.04456" "{PMID:Webster 2001:11328725}" "" "5603A>T" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000121261" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "ExAC 5406, 121330, 156, 0.04456" "{PMID:Webster 2001:11328725}" "" "5603A>T" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000121262" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "ExAC 5406, 121330, 156, 0.04456" "{PMID:Webster 2001:11328725}" "" "5603A>T" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000121263" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "ExAC 5406, 121330, 156, 0.04456" "{PMID:Webster 2001:11328725}" "" "5603A>T" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000121264" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "ExAC 5406, 121330, 156, 0.04456" "{PMID:Webster 2001:11328725}" "" "5603A>T" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000121265" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "ExAC 5406, 121330, 156, 0.04456" "{PMID:Webster 2001:11328725}" "" "5603A>T" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000121266" "0" "50" "1" "94476419" "94476419" "subst" "0" "01695" "ABCA4_000417" "g.94476419A>T" "" "{PMID:Webster 2001:11328725}" "" "5651T>A" "" "Germline" "" "" "0" "" "" "g.94010863A>T" "" "VUS" ""
"0000121267" "0" "50" "1" "94476413" "94476413" "subst" "0" "01695" "ABCA4_000415" "g.94476413C>T" "" "{PMID:Webster 2001:11328725}" "" "5657G>A" "" "Germline" "" "" "0" "" "" "g.94010857C>T" "" "VUS" ""
"0000121268" "0" "50" "1" "94476383" "94476383" "subst" "4.0622E-6" "01695" "ABCA4_000413" "g.94476383A>T" "ExAC 1, 121106, 0, 0.000008257" "{PMID:Webster 2001:11328725}" "" "5687T>A" "" "Germline" "" "" "0" "" "" "g.94010827A>T" "" "VUS" ""
"0000121269" "0" "50" "1" "94476377" "94476377" "subst" "0.00160473" "01695" "ABCA4_000411" "g.94476377C>T" "ExAC 216, 121058, 1, 0.001784" "{PMID:Webster 2001:11328725}" "" "5693G>A" "" "Germline" "" "" "0" "" "" "g.94010821C>T" "" "VUS" ""
"0000121270" "0" "50" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "ExAC 42, 120772, 0, 0.0003478" "{PMID:Webster 2001:11328725}" "" "5714 + 5g>a" "" "Germline" "" "" "0" "" "" "g.94010795C>T" "" "VUS" ""
"0000121271" "0" "50" "1" "94473845" "94473846" "inv" "0" "01695" "ABCA4_000403" "g.94473845_94473846inv" "" "{PMID:Webster 2001:11328725}" "" "5843CA>TG" "" "Germline" "" "" "0" "" "" "g.94008289_94008290inv" "" "VUS" ""
"0000121272" "0" "50" "1" "94473845" "94473846" "inv" "0" "01695" "ABCA4_000403" "g.94473845_94473846inv" "" "{PMID:Webster 2001:11328725}" "" "5843CA>TG" "" "Germline" "" "" "0" "" "" "g.94008289_94008290inv" "" "VUS" ""
"0000121273" "0" "50" "1" "94473845" "94473846" "inv" "0" "01695" "ABCA4_000403" "g.94473845_94473846inv" "" "{PMID:Webster 2001:11328725}" "" "5843CA>TG" "" "Germline" "" "" "0" "" "" "g.94008289_94008290inv" "" "VUS" ""
"0000121274" "0" "50" "1" "94473845" "94473846" "inv" "0" "01695" "ABCA4_000403" "g.94473845_94473846inv" "" "{PMID:Webster 2001:11328725}" "" "5843CA>TG" "" "Germline" "" "" "0" "" "" "g.94008289_94008290inv" "" "VUS" ""
"0000121275" "0" "50" "1" "94473845" "94473846" "inv" "0" "01695" "ABCA4_000403" "g.94473845_94473846inv" "" "{PMID:Webster 2001:11328725}" "" "5843CA>TG" "" "Germline" "" "" "0" "" "" "g.94008289_94008290inv" "" "VUS" ""
"0000121276" "0" "50" "1" "94473845" "94473846" "inv" "0" "01695" "ABCA4_000403" "g.94473845_94473846inv" "" "{PMID:Webster 2001:11328725}" "" "5843CA>TG" "" "Germline" "" "" "0" "" "" "g.94008289_94008290inv" "" "VUS" ""
"0000121277" "0" "50" "1" "94473845" "94473846" "inv" "0" "01695" "ABCA4_000403" "g.94473845_94473846inv" "" "{PMID:Webster 2001:11328725}" "" "5843CA>TG" "" "Germline" "" "" "0" "" "" "g.94008289_94008290inv" "" "VUS" ""
"0000121278" "0" "50" "1" "94473845" "94473846" "inv" "0" "01695" "ABCA4_000403" "g.94473845_94473846inv" "" "{PMID:Webster 2001:11328725}" "" "5843CA>TG" "" "Germline" "" "" "0" "" "" "g.94008289_94008290inv" "" "VUS" ""
"0000121279" "0" "50" "1" "94473845" "94473846" "inv" "0" "01695" "ABCA4_000403" "g.94473845_94473846inv" "" "{PMID:Webster 2001:11328725}" "" "5843CA>TG" "" "Germline" "" "" "0" "" "" "g.94008289_94008290inv" "" "VUS" ""
"0000121280" "0" "50" "1" "94473845" "94473846" "inv" "0" "01695" "ABCA4_000403" "g.94473845_94473846inv" "" "{PMID:Webster 2001:11328725}" "" "5843CA>TG" "" "Germline" "" "" "0" "" "" "g.94008289_94008290inv" "" "VUS" ""
"0000121281" "0" "50" "1" "94473845" "94473846" "inv" "0" "01695" "ABCA4_000403" "g.94473845_94473846inv" "" "{PMID:Webster 2001:11328725}" "" "5843CA>TG" "" "Germline" "" "" "0" "" "" "g.94008289_94008290inv" "" "VUS" ""
"0000121282" "0" "50" "1" "94473845" "94473846" "inv" "0" "01695" "ABCA4_000403" "g.94473845_94473846inv" "" "{PMID:Webster 2001:11328725}" "" "5843CA>TG" "" "Germline" "" "" "0" "" "" "g.94008289_94008290inv" "" "VUS" ""
"0000121283" "0" "50" "1" "94473845" "94473846" "inv" "0" "01695" "ABCA4_000403" "g.94473845_94473846inv" "" "{PMID:Webster 2001:11328725}" "" "5843CA>TG" "" "Germline" "" "" "0" "" "" "g.94008289_94008290inv" "" "VUS" ""
"0000121284" "0" "50" "1" "94473845" "94473846" "inv" "0" "01695" "ABCA4_000403" "g.94473845_94473846inv" "" "{PMID:Webster 2001:11328725}" "" "5843CA>TG" "" "Germline" "" "" "0" "" "" "g.94008289_94008290inv" "" "VUS" ""
"0000121285" "0" "50" "1" "94473845" "94473846" "inv" "0" "01695" "ABCA4_000403" "g.94473845_94473846inv" "" "{PMID:Webster 2001:11328725}" "" "5843CA>TG" "" "Germline" "" "" "0" "" "" "g.94008289_94008290inv" "" "VUS" ""
"0000121286" "0" "50" "1" "94473845" "94473846" "inv" "0" "01695" "ABCA4_000403" "g.94473845_94473846inv" "" "{PMID:Webster 2001:11328725}" "" "5843CA>TG" "" "Germline" "" "" "0" "" "" "g.94008289_94008290inv" "" "VUS" ""
"0000121287" "0" "50" "1" "94473845" "94473846" "inv" "0" "01695" "ABCA4_000403" "g.94473845_94473846inv" "" "{PMID:Webster 2001:11328725}" "" "5843CA>TG" "" "Germline" "" "" "0" "" "" "g.94008289_94008290inv" "" "VUS" ""
"0000121288" "0" "50" "1" "94473845" "94473846" "inv" "0" "01695" "ABCA4_000403" "g.94473845_94473846inv" "" "{PMID:Webster 2001:11328725}" "" "5843CA>TG" "" "Germline" "" "" "0" "" "" "g.94008289_94008290inv" "" "VUS" ""
"0000121289" "0" "50" "1" "94473845" "94473846" "inv" "0" "01695" "ABCA4_000403" "g.94473845_94473846inv" "" "{PMID:Webster 2001:11328725}" "" "5843CA>TG" "" "Germline" "" "" "0" "" "" "g.94008289_94008290inv" "" "VUS" ""
"0000121290" "0" "50" "1" "94473845" "94473846" "inv" "0" "01695" "ABCA4_000403" "g.94473845_94473846inv" "" "{PMID:Webster 2001:11328725}" "" "5843CA>TG" "" "Germline" "" "" "0" "" "" "g.94008289_94008290inv" "" "VUS" ""
"0000121291" "0" "50" "1" "94473845" "94473846" "inv" "0" "01695" "ABCA4_000403" "g.94473845_94473846inv" "" "{PMID:Webster 2001:11328725}" "" "5843CA>TG" "" "Germline" "" "" "0" "" "" "g.94008289_94008290inv" "" "VUS" ""
"0000121292" "0" "50" "1" "94473845" "94473846" "inv" "0" "01695" "ABCA4_000403" "g.94473845_94473846inv" "" "{PMID:Webster 2001:11328725}" "" "5843CA>TG" "" "Germline" "" "" "0" "" "" "g.94008289_94008290inv" "" "VUS" ""
"0000121293" "0" "50" "1" "94473845" "94473846" "inv" "0" "01695" "ABCA4_000403" "g.94473845_94473846inv" "" "{PMID:Webster 2001:11328725}" "" "5843CA>TG" "" "Germline" "" "" "0" "" "" "g.94008289_94008290inv" "" "VUS" ""
"0000121294" "0" "50" "1" "94473845" "94473846" "inv" "0" "01695" "ABCA4_000403" "g.94473845_94473846inv" "" "{PMID:Webster 2001:11328725}" "" "5843CA>TG" "" "Germline" "" "" "0" "" "" "g.94008289_94008290inv" "" "VUS" ""
"0000121295" "0" "50" "1" "94473845" "94473846" "inv" "0" "01695" "ABCA4_000403" "g.94473845_94473846inv" "" "{PMID:Webster 2001:11328725}" "" "5843CA>TG" "" "Germline" "" "" "0" "" "" "g.94008289_94008290inv" "" "VUS" ""
"0000121296" "0" "50" "1" "94473845" "94473846" "inv" "0" "01695" "ABCA4_000403" "g.94473845_94473846inv" "" "{PMID:Webster 2001:11328725}" "" "5843CA>TG" "" "Germline" "" "" "0" "" "" "g.94008289_94008290inv" "" "VUS" ""
"0000121297" "0" "50" "1" "94473845" "94473846" "inv" "0" "01695" "ABCA4_000403" "g.94473845_94473846inv" "" "{PMID:Webster 2001:11328725}" "" "5843CA>TG" "" "Germline" "" "" "0" "" "" "g.94008289_94008290inv" "" "VUS" ""
"0000121298" "0" "50" "1" "94473845" "94473846" "inv" "0" "01695" "ABCA4_000403" "g.94473845_94473846inv" "" "{PMID:Webster 2001:11328725}" "" "5843CA>TG" "" "Germline" "" "" "0" "" "" "g.94008289_94008290inv" "" "VUS" ""
"0000121299" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "ExAC 613, 121302, 4, 0.005054" "{PMID:Webster 2001:11328725}" "" "5882G>A" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000121300" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "ExAC 613, 121302, 4, 0.005054" "{PMID:Webster 2001:11328725}" "" "5882G>A" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000121301" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "ExAC 613, 121302, 4, 0.005054" "{PMID:Webster 2001:11328725}" "" "5882G>A" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000121302" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "ExAC 613, 121302, 4, 0.005054" "{PMID:Webster 2001:11328725}" "" "5882G>A" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000121303" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "ExAC 613, 121302, 4, 0.005054" "{PMID:Webster 2001:11328725}" "" "5882G>A" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000121304" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "ExAC 613, 121302, 4, 0.005054" "{PMID:Webster 2001:11328725}" "" "5882G>A" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000121305" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "ExAC 613, 121302, 4, 0.005054" "{PMID:Webster 2001:11328725}" "" "5882G>A" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000121306" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "ExAC 613, 121302, 4, 0.005054" "{PMID:Webster 2001:11328725}" "" "5882G>A" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000121307" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "ExAC 613, 121302, 4, 0.005054" "{PMID:Webster 2001:11328725}" "" "5882G>A" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000121308" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "ExAC 613, 121302, 4, 0.005054" "{PMID:Webster 2001:11328725}" "" "5882G>A" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000121309" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "ExAC 613, 121302, 4, 0.005054" "{PMID:Webster 2001:11328725}" "" "5882G>A" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000121310" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "ExAC 613, 121302, 4, 0.005054" "{PMID:Webster 2001:11328725}" "" "5882G>A" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000121311" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "ExAC 613, 121302, 4, 0.005054" "{PMID:Webster 2001:11328725}" "" "5882G>A" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000121312" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "ExAC 613, 121302, 4, 0.005054" "{PMID:Webster 2001:11328725}" "" "5882G>A" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000121313" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "ExAC 613, 121302, 4, 0.005054" "{PMID:Webster 2001:11328725}" "" "5882G>A" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000121314" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "ExAC 613, 121302, 4, 0.005054" "{PMID:Webster 2001:11328725}" "" "5882G>A" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000121315" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "ExAC 613, 121302, 4, 0.005054" "{PMID:Webster 2001:11328725}" "" "5882G>A" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000121316" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "ExAC 613, 121302, 4, 0.005054" "{PMID:Webster 2001:11328725}" "" "5882G>A" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000121317" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "ExAC 613, 121302, 4, 0.005054" "{PMID:Webster 2001:11328725}" "" "5882G>A" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000121318" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "ExAC 613, 121302, 4, 0.005054" "{PMID:Webster 2001:11328725}" "" "5882G>A" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000121319" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "ExAC 613, 121302, 4, 0.005054" "{PMID:Webster 2001:11328725}" "" "5882G>A" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000121320" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "ExAC 613, 121302, 4, 0.005054" "{PMID:Webster 2001:11328725}" "" "5882G>A" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000121321" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "ExAC 613, 121302, 4, 0.005054" "{PMID:Webster 2001:11328725}" "" "5882G>A" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000121322" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "ExAC 613, 121302, 4, 0.005054" "{PMID:Webster 2001:11328725}" "" "5882G>A" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000121323" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "ExAC 613, 121302, 4, 0.005054" "{PMID:Webster 2001:11328725}" "" "5882G>A" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000121324" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "ExAC 613, 121302, 4, 0.005054" "{PMID:Webster 2001:11328725}" "" "5882G>A" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000121325" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "ExAC 613, 121302, 4, 0.005054" "{PMID:Webster 2001:11328725}" "" "5882G>A" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000121326" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "ExAC 613, 121302, 4, 0.005054" "{PMID:Webster 2001:11328725}" "" "5882G>A" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000121327" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "ExAC 613, 121302, 4, 0.005054" "{PMID:Webster 2001:11328725}" "" "5882G>A" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000121328" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "ExAC 613, 121302, 4, 0.005054" "{PMID:Webster 2001:11328725}" "" "5882G>A" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000121329" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "ExAC 613, 121302, 4, 0.005054" "{PMID:Webster 2001:11328725}" "" "5882G>A" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000121330" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "ExAC 613, 121302, 4, 0.005054" "{PMID:Webster 2001:11328725}" "" "5882G>A" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000121331" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "ExAC 613, 121302, 4, 0.005054" "{PMID:Webster 2001:11328725}" "" "5882G>A" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000121332" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "ExAC 613, 121302, 4, 0.005054" "{PMID:Webster 2001:11328725}" "" "5882G>A" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000121333" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "ExAC 613, 121302, 4, 0.005054" "{PMID:Webster 2001:11328725}" "" "5882G>A" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000121334" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "ExAC 613, 121302, 4, 0.005054" "{PMID:Webster 2001:11328725}" "" "5882G>A" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000121335" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "ExAC 613, 121302, 4, 0.005054" "{PMID:Webster 2001:11328725}" "" "5882G>A" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000121336" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "ExAC 613, 121302, 4, 0.005054" "{PMID:Webster 2001:11328725}" "" "5882G>A" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000121337" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "ExAC 613, 121302, 4, 0.005054" "{PMID:Webster 2001:11328725}" "" "5882G>A" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000121338" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "ExAC 613, 121302, 4, 0.005054" "{PMID:Webster 2001:11328725}" "" "5882G>A" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000121339" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "ExAC 613, 121302, 4, 0.005054" "{PMID:Webster 2001:11328725}" "" "5882G>A" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000121340" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "ExAC 613, 121302, 4, 0.005054" "{PMID:Webster 2001:11328725}" "" "5882G>A" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000121341" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "ExAC 613, 121302, 4, 0.005054" "{PMID:Webster 2001:11328725}" "" "5882G>A" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000121342" "0" "50" "1" "94473287" "94473287" "subst" "0.00293818" "01695" "ABCA4_000395" "g.94473287G>A" "ExAC 352, 120336, 1, 0.002925" "{PMID:Webster 2001:11328725}" "" "5908C>T" "" "Germline" "" "" "0" "" "" "g.94007731G>A" "" "VUS" ""
"0000121343" "0" "50" "1" "94473278" "94473278" "del" "3.25908E-5" "01695" "ABCA4_000392" "g.94473278del" "" "{PMID:Webster 2001:11328725}" "" "5917delG" "" "Germline" "" "" "0" "" "" "g.94007722del" "" "VUS" ""
"0000121344" "0" "50" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "ExAC 26, 121404, 0, 0.0002142" "{PMID:Webster 2001:11328725}" "" "6079C>T" "" "Germline" "" "" "0" "" "" "g.94005509G>A" "" "VUS" ""
"0000121345" "0" "50" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "ExAC 26, 121404, 0, 0.0002142" "{PMID:Webster 2001:11328725}" "" "6079C>T" "" "Germline" "" "" "0" "" "" "g.94005509G>A" "" "VUS" ""
"0000121346" "0" "50" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "ExAC 26, 121404, 0, 0.0002142" "{PMID:Webster 2001:11328725}" "" "6079C>T" "" "Germline" "" "" "0" "" "" "g.94005509G>A" "" "VUS" ""
"0000121347" "0" "50" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "ExAC 26, 121404, 0, 0.0002142" "{PMID:Webster 2001:11328725}" "" "6079C>T" "" "Germline" "" "" "0" "" "" "g.94005509G>A" "" "VUS" ""
"0000121348" "0" "50" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "ExAC 26, 121404, 0, 0.0002142" "{PMID:Webster 2001:11328725}" "" "6079C>T" "" "Germline" "" "" "0" "" "" "g.94005509G>A" "" "VUS" ""
"0000121349" "0" "50" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "ExAC 26, 121404, 0, 0.0002142" "{PMID:Webster 2001:11328725}" "" "6079C>T" "" "Germline" "" "" "0" "" "" "g.94005509G>A" "" "VUS" ""
"0000121350" "0" "50" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "ExAC 26, 121404, 0, 0.0002142" "{PMID:Webster 2001:11328725}" "" "6079C>T" "" "Germline" "" "" "0" "" "" "g.94005509G>A" "" "VUS" ""
"0000121351" "0" "50" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "ExAC 26, 121404, 0, 0.0002142" "{PMID:Webster 2001:11328725}" "" "6079C>T" "" "Germline" "" "" "0" "" "" "g.94005509G>A" "" "VUS" ""
"0000121352" "0" "50" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "ExAC 26, 121404, 0, 0.0002142" "{PMID:Webster 2001:11328725}" "" "6079C>T" "" "Germline" "" "" "0" "" "" "g.94005509G>A" "" "VUS" ""
"0000121353" "0" "50" "1" "94471056" "94471056" "subst" "2.84398E-5" "01695" "ABCA4_000050" "g.94471056G>A" "ExAC 3, 121402, 0, 0.00002471" "{PMID:Webster 2001:11328725}" "" "6088C>T" "" "Germline" "" "" "0" "" "" "g.94005500G>A" "" "VUS" ""
"0000121354" "0" "50" "1" "94471056" "94471056" "subst" "2.84398E-5" "01695" "ABCA4_000050" "g.94471056G>A" "ExAC 3, 121402, 0, 0.00002471" "{PMID:Webster 2001:11328725}" "" "6088C>T" "" "Germline" "" "" "0" "" "" "g.94005500G>A" "" "VUS" ""
"0000121355" "0" "50" "1" "94471055" "94471055" "subst" "0.00035346" "01695" "ABCA4_000029" "g.94471055C>T" "ExAC 47, 121404, 1, 0.0003871" "{PMID:Webster 2001:11328725}" "" "6089G>A" "" "Germline" "" "" "0" "" "" "g.94005499C>T" "" "VUS" ""
"0000121356" "0" "50" "1" "94471032" "94471032" "subst" "1.62553E-5" "01695" "ABCA4_000792" "g.94471032G>A" "ExAC 3, 121400, 0, 0.00002471" "{PMID:Webster 2001:11328725}" "" "6112A>T" "" "Germline" "" "" "0" "" "" "g.94005476G>A" "" "VUS" ""
"0000121357" "0" "50" "1" "94467484" "94467484" "subst" "0" "01695" "ABCA4_000782" "g.94467484T>A" "" "{PMID:Webster 2001:11328725}" "" "6212A>T" "" "Germline" "" "" "0" "" "" "g.94001928T>A" "" "VUS" ""
"0000121358" "0" "50" "1" "94467467" "94467467" "subst" "4.06164E-6" "01695" "ABCA4_000780" "g.94467467G>A" "" "{PMID:Webster 2001:11328725}" "" "6229C>T" "" "Germline" "" "" "0" "" "" "g.94001911G>A" "" "VUS" ""
"0000121359" "0" "50" "1" "94467467" "94467467" "subst" "4.06164E-6" "01695" "ABCA4_000780" "g.94467467G>A" "" "{PMID:Webster 2001:11328725}" "" "6229C>T" "" "Germline" "" "" "0" "" "" "g.94001911G>A" "" "VUS" ""
"0000121360" "0" "50" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "ExAC 227, 121250, 3, 0.001872" "{PMID:Webster 2001:11328725}" "" "6320G>A" "" "Germline" "" "" "0" "" "" "g.94001068C>T" "" "VUS" ""
"0000121361" "0" "50" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "ExAC 227, 121250, 3, 0.001872" "{PMID:Webster 2001:11328725}" "" "6320G>A" "" "Germline" "" "" "0" "" "" "g.94001068C>T" "" "VUS" ""
"0000121362" "0" "50" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "ExAC 227, 121250, 3, 0.001872" "{PMID:Webster 2001:11328725}" "" "6320G>A" "" "Germline" "" "" "0" "" "" "g.94001068C>T" "" "VUS" ""
"0000121363" "0" "50" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "ExAC 227, 121250, 3, 0.001872" "{PMID:Webster 2001:11328725}" "" "6320G>A" "" "Germline" "" "" "0" "" "" "g.94001068C>T" "" "VUS" ""
"0000121364" "0" "50" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "ExAC 227, 121250, 3, 0.001872" "{PMID:Webster 2001:11328725}" "" "6320G>A" "" "Germline" "" "" "0" "" "" "g.94001068C>T" "" "VUS" ""
"0000121365" "0" "50" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "ExAC 227, 121250, 3, 0.001872" "{PMID:Webster 2001:11328725}" "" "6320G>A" "" "Germline" "" "" "0" "" "" "g.94001068C>T" "" "VUS" ""
"0000121366" "0" "50" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "ExAC 227, 121250, 3, 0.001872" "{PMID:Webster 2001:11328725}" "" "6320G>A" "" "Germline" "" "" "0" "" "" "g.94001068C>T" "" "VUS" ""
"0000121367" "0" "50" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "ExAC 227, 121250, 3, 0.001872" "{PMID:Webster 2001:11328725}" "" "6320G>A" "" "Germline" "" "" "0" "" "" "g.94001068C>T" "" "VUS" ""
"0000121368" "0" "50" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "ExAC 227, 121250, 3, 0.001872" "{PMID:Webster 2001:11328725}" "" "6320G>A" "" "Germline" "" "" "0" "" "" "g.94001068C>T" "" "VUS" ""
"0000121369" "0" "50" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "ExAC 227, 121250, 3, 0.001872" "{PMID:Webster 2001:11328725}" "" "6320G>A" "" "Germline" "" "" "0" "" "" "g.94001068C>T" "" "VUS" ""
"0000121370" "0" "50" "1" "94466561" "94466561" "subst" "8.12288E-6" "01695" "ABCA4_000834" "g.94466561T>C" "ExAC 1, 121390, 0, 0.000008238" "{PMID:Webster 2001:11328725}" "" "6383A>G" "" "Germline" "" "" "0" "" "" "g.94001005T>C" "" "VUS" ""
"0000121371" "0" "50" "1" "94466425" "94466425" "subst" "0" "01695" "ABCA4_000819" "g.94466425C>A" "" "{PMID:Webster 2001:11328725}" "" "6446G>T" "" "Germline" "" "" "0" "" "" "g.94000869C>A" "" "VUS" ""
"0000121372" "0" "50" "1" "94466422" "94466422" "subst" "2.43651E-5" "01695" "ABCA4_000817" "g.94466422C>T" "ExAC 3, 121398, 0, 0.00002471" "{PMID:Webster 2001:11328725}" "" "6449G>A" "" "Germline" "" "" "0" "" "" "g.94000866C>T" "" "VUS" ""
"0000121373" "0" "50" "1" "94466422" "94466422" "subst" "2.43651E-5" "01695" "ABCA4_000817" "g.94466422C>T" "ExAC 3, 121398, 0, 0.00002471" "{PMID:Webster 2001:11328725}" "" "6449G>A" "" "Germline" "" "" "0" "" "" "g.94000866C>T" "" "VUS" ""
"0000121374" "0" "50" "1" "94466422" "94466422" "subst" "2.43651E-5" "01695" "ABCA4_000817" "g.94466422C>T" "ExAC 3, 121398, 0, 0.00002471" "{PMID:Webster 2001:11328725}" "" "6449G>A" "" "Germline" "" "" "0" "" "" "g.94000866C>T" "" "VUS" ""
"0000121375" "0" "50" "1" "94466422" "94466422" "subst" "2.43651E-5" "01695" "ABCA4_000817" "g.94466422C>T" "ExAC 3, 121398, 0, 0.00002471" "{PMID:Webster 2001:11328725}" "" "6449G>A" "" "Germline" "" "" "0" "" "" "g.94000866C>T" "" "VUS" ""
"0000121376" "0" "50" "1" "94466422" "94466422" "subst" "2.43651E-5" "01695" "ABCA4_000817" "g.94466422C>T" "ExAC 3, 121398, 0, 0.00002471" "{PMID:Webster 2001:11328725}" "" "6449G>A" "" "Germline" "" "" "0" "" "" "g.94000866C>T" "" "VUS" ""
"0000121377" "0" "50" "1" "94463460" "94463460" "subst" "6.90507E-5" "01695" "ABCA4_000799" "g.94463460A>G" "ExAC 8, 121286, 0, 0.00006596" "{PMID:Webster 2001:11328725}" "" "6686T>C" "" "Germline" "" "" "0" "" "" "g.93997904A>G" "" "VUS" ""
"0000121378" "0" "50" "1" "94463435" "94463442" "del" "0" "01695" "ABCA4_000855" "g.94463435_94463442del" "" "{PMID:Webster 2001:11328725}" "" "6707delTCACACAG" "" "Germline" "" "" "0" "" "" "g.93997879_93997886del" "" "VUS" ""
"0000121379" "0" "50" "1" "94463416" "94463416" "subst" "0" "01695" "ABCA4_000852" "g.94463416C>T" "" "{PMID:Webster 2001:11328725}" "" "6729 + 1g>a" "" "Germline" "" "" "0" "" "" "g.93997860C>T" "" "VUS" ""
"0000121380" "0" "50" "1" "94461693" "94461693" "subst" "0" "01695" "ABCA4_000861" "g.94461693C>A" "" "{PMID:Webster 2001:11328725}" "" "6788G>T" "" "Germline" "" "" "0" "" "" "g.93996137C>A" "" "VUS" ""
"0000121381" "0" "50" "1" "94576974" "94576974" "subst" "0.00115785" "01695" "ABCA4_000220" "g.94576974G>A" "ExAC 184, 119154, 2, 0.001544" "{PMID:Webster 2001:11328725}" "" "302 + 20C >T" "" "Germline" "" "" "0" "" "" "g.94111418G>A" "" "VUS" ""
"0000121382" "11" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "ExAC 601, 118484, 2, 0.005072" "{PMID:Shroyer 2001:11687513}" "" "G863A" "" "Germline" "-" "rs76157638" "0" "" "" "g.94051698C>G" "" "likely pathogenic" ""
"0000121383" "21" "90" "1" "94496583" "94496583" "subst" "2.03092E-5" "01695" "ABCA4_000190" "g.94496583A>G" "" "{PMID:Webster 2001:11328725}" "" "[W1408R; R1640W]" "" "Germline" "yes" "" "0" "" "" "g.94031027A>G" "" "pathogenic" ""
"0000121384" "21" "90" "1" "94486896" "94486896" "subst" "3.65562E-5" "01695" "ABCA4_000085" "g.94486896G>A" "" "{PMID:Webster 2001:11328725}" "" "[W1408R; R1640W]" "" "Germline" "yes" "" "0" "" "" "g.94021340G>A" "" "pathogenic" ""
"0000121385" "0" "70" "1" "94522239" "94522239" "subst" "2.03305E-5" "01695" "ABCA4_000736" "g.94522239A>T" "ExAC 1, 119332, 0, 0.00000838" "{PMID:Shroyer 2001:11687513}" "" "V767D" "" "Germline" "-" "" "0" "" "" "g.94056683A>T" "" "likely pathogenic" ""
"0000121386" "1" "70" "1" "94496583" "94496583" "subst" "2.03092E-5" "01695" "ABCA4_000190" "g.94496583A>G" "" "{PMID:Shroyer 2001:11687513}" "" "[W1408R; R1640W]" "" "Germline" "yes" "" "0" "" "" "g.94031027A>G" "" "likely pathogenic" ""
"0000121387" "1" "70" "1" "94486896" "94486896" "subst" "3.65562E-5" "01695" "ABCA4_000085" "g.94486896G>A" "" "{PMID:Shroyer 2001:11687513}" "" "[W1408R; R1640W]" "" "Germline" "yes" "" "0" "" "" "g.94021340G>A" "" "likely pathogenic" ""
"0000121388" "0" "70" "1" "94522239" "94522239" "subst" "2.03305E-5" "01695" "ABCA4_000736" "g.94522239A>T" "ExAC 1, 119332, 0, 0.00000838" "{PMID:Shroyer 2001:11687513}" "" "V767D" "" "Germline" "-" "" "0" "" "" "g.94056683A>T" "" "likely pathogenic" ""
"0000121389" "1" "70" "1" "94496583" "94496583" "subst" "2.03092E-5" "01695" "ABCA4_000190" "g.94496583A>G" "" "{PMID:Shroyer 2001:11687513}" "" "[W1408R; R1640W]" "" "Germline" "yes" "" "0" "" "" "g.94031027A>G" "" "likely pathogenic" ""
"0000121390" "1" "70" "1" "94486896" "94486896" "subst" "3.65562E-5" "01695" "ABCA4_000085" "g.94486896G>A" "" "{PMID:Shroyer 2001:11687513}" "" "[W1408R; R1640W]" "" "Germline" "yes" "" "0" "" "" "g.94021340G>A" "" "likely pathogenic" ""
"0000121391" "21" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "ExAC 12, 60116, 0, 0.0001996" "{PMID:Fumagalli 2001:11702214}" "" "C1490Y" "" "Germline" "-" "" "0" "" "" "g.94029515C>T" "" "likely pathogenic" ""
"0000121392" "10" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "ExAC 613, 121302, 4, 0.005054" "{PMID:Fumagalli 2001:11702214}" "" "G1961E" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000121393" "1" "50" "1" "94509018" "94509018" "subst" "8.12869E-6" "01695" "ABCA4_000659" "g.94509018C>T" "" "{PMID:Fumagalli 2001:11702214}" "" "E1022 K; C230S" "" "Germline" "" "" "0" "" "" "g.94043462C>T" "" "VUS" ""
"0000121394" "1" "50" "1" "94564430" "94564430" "subst" "0" "01695" "ABCA4_000376" "g.94564430A>T" "" "{PMID:Fumagalli 2001:11702214}" "" "E1022 K; C230S" "" "Germline" "" "" "0" "" "" "g.94098874A>T" "" "VUS" ""
"0000121395" "0" "50" "1" "94486794" "94486794" "subst" "0" "01695" "ABCA4_000478" "g.94486794A>G" "" "{PMID:Fumagalli 2001:11702214}" "" "5018+2T>C" "" "Germline" "" "" "0" "" "" "g.94021238A>G" "" "VUS" ""
"0000121396" "0" "50" "1" "94520793" "94520793" "subst" "8.13292E-6" "01695" "ABCA4_000723" "g.94520793A>T" "ExAC 1, 121346, 0, 0.000008241" "{PMID:Fumagalli 2001:11702214}" "" "W821R" "" "Germline" "" "" "0" "" "" "g.94055237A>T" "" "VUS" ""
"0000121397" "0" "50" "1" "94466422" "94466422" "subst" "2.43651E-5" "01695" "ABCA4_000817" "g.94466422C>T" "ExAC 3, 121398, 0, 0.00002471" "{PMID:Fumagalli 2001:11702214}" "" "C2150Y" "" "Germline" "" "" "0" "" "" "g.94000866C>T" "" "VUS" ""
"0000121398" "1" "50" "1" "94512602" "94512602" "subst" "0.000369717" "01695" "ABCA4_000052" "g.94512602C>T" "" "{PMID:Fumagalli 2001:11702214}" "" "V931 M; P1380L" "" "Germline" "" "" "0" "" "" "g.94047046C>T" "" "VUS" ""
"0000121399" "1" "50" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Fumagalli 2001:11702214}" "" "V931 M; P1380L" "" "Germline" "" "" "0" "" "" "g.94031110G>A" "" "VUS" ""
"0000121400" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "ExAC 613, 121302, 4, 0.005054" "{PMID:Fumagalli 2001:11702214}" "" "G1961E" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000121401" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Fumagalli 2001:11702214}" "" "L541P;A1038 V" "" "Germline" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000121402" "1" "50" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Fumagalli 2001:11702214}" "" "L541P;A1038 V" "" "Germline" "" "" "0" "" "" "g.94043413G>A" "" "VUS" ""
"0000121403" "1" "50" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Fumagalli 2001:11702214}" "" "1526delG;571–1G>T;R1108C;1526delG" "" "Germline" "" "" "0" "" "" "g.94042767G>A" "" "VUS" ""
"0000121404" "1" "50" "1" "94564548" "94564548" "subst" "0" "01695" "ABCA4_000197" "g.94564548C>A" "" "{PMID:Fumagalli 2001:11702214}" "" "1526delG;571–1G>T;R1108C;1526delG" "" "Germline" "" "" "0" "" "" "g.94098992C>A" "" "VUS" ""
"0000121405" "0" "50" "1" "94473231" "94473234" "del" "0" "01695" "ABCA4_000387" "g.94473231_94473234del" "" "{PMID:Fumagalli 2001:11702214}" "" "5961delGGAC" "" "Germline" "" "" "0" "" "" "g.94007675_94007678del" "" "VUS" ""
"0000121406" "0" "50" "1" "94568686" "94568686" "subst" "0.00258122" "01695" "ABCA4_000212" "g.94568686C>T" "ExAC 290, 120866, 1, 0.002399" "{PMID:Fumagalli 2001:11702214}" "" "R152Q" "" "Germline" "" "" "0" "" "" "g.94103130C>T" "" "VUS" ""
"0000121407" "0" "50" "1" "94495005" "94495005" "subst" "6.58562E-6" "01695" "ABCA4_000535" "g.94495005G>C" "" "{PMID:Fumagalli 2001:11702214}" "" "P1512R" "" "Germline" "" "" "0" "" "" "g.94029449G>C" "" "VUS" ""
"0000121408" "0" "90" "1" "94508350" "94508350" "subst" "0" "01695" "ABCA4_000633" "g.94508350A>G" "" "{PMID:Fumagalli 2001:11702214}" "" "S1099P" "" "Germline" "" "" "0" "" "" "g.94042794A>G" "" "pathogenic" ""
"0000121409" "0" "70" "1" "94461733" "94461733" "del" "0" "01695" "ABCA4_000135" "g.94461733del" "" "{PMID:Fumagalli 2001:11702214}" "" "6748delA" "" "Germline" "yes" "" "0" "" "" "g.93996177del" "" "likely pathogenic" ""
"0000121410" "1" "50" "1" "94526154" "94526154" "subst" "4.06441E-6" "01695" "ABCA4_000752" "g.94526154C>T" "" "{PMID:Fumagalli 2001:11702214}" "" "W700X; G1961E" "" "Germline" "" "" "0" "" "" "g.94060598C>T" "" "VUS" ""
"0000121411" "1" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Fumagalli 2001:11702214}" "" "W700X; G1961E" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000121412" "1" "50" "1" "94528148" "94528148" "subst" "0" "01695" "ABCA4_000777" "g.94528148C>G" "" "{PMID:Fumagalli 2001:11702214}" "" "C641S; G1961E" "" "Germline" "" "" "0" "" "" "g.94062592C>G" "" "VUS" ""
"0000121413" "1" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Fumagalli 2001:11702214}" "" "C641S; G1961E" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000121414" "0" "50" "1" "94508386" "94508386" "subst" "1.62443E-5" "01695" "ABCA4_000642" "g.94508386C>T" "ExAC 4, 121376, 0, 0.00003296" "{PMID:Fumagalli 2001:11702214}" "" "E1087K" "" "Germline" "" "" "0" "" "" "g.94042830C>T" "" "VUS" ""
"0000121415" "11" "90" "1" "94577046" "94577049" "dup" "0" "01695" "ABCA4_000227" "g.94577046_94577049dup" "" "{PMID:Fumagalli 2001:11702214}" "" "250insCAAA" "" "Germline" "" "" "0" "" "" "g.94111490_94111493dup" "" "pathogenic" ""
"0000121416" "0" "70" "1" "94574252" "94574252" "subst" "0" "01695" "ABCA4_000217" "g.94574252T>A" "" "{PMID:Stenirri 2004:15192030}" "" "D108V (323A>T)" "" "Germline" "" "" "0" "" "" "g.94108696T>A" "" "likely pathogenic" ""
"0000121417" "1" "50" "1" "94487251" "94487251" "subst" "2.85679E-5" "01695" "ABCA4_000490" "g.94487251G>T" "" "{PMID:Fumagalli 2001:11702214}" "" "A1598D; 5714+5G>A" "" "Germline" "" "" "0" "" "" "g.94021695G>T" "" "VUS" ""
"0000121418" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Fumagalli 2001:11702214}" "" "A1598D; 5714+5G>A" "" "Germline" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic" ""
"0000121419" "0" "50" "1" "94577008" "94577008" "subst" "0" "01695" "ABCA4_000223" "g.94577008G>T" "" "{PMID:Stenirri 2004:15192030}" "" "N96K (288C>A)" "" "Germline" "" "" "0" "" "" "g.94111452G>T" "" "VUS" ""
"0000121420" "21" "70" "1" "94490567" "94490567" "subst" "5.68528E-5" "01695" "ABCA4_000026" "g.94490567G>A" "ExAC 4, 121406, 0, 0.00003295" "{PMID:Fumagalli 2001:11702214}" "" "T1526 M" "" "Germline" "" "" "0" "" "" "g.94025011G>A" "" "likely pathogenic" ""
"0000121421" "11" "70" "1" "94510286" "94510286" "subst" "0" "01695" "ABCA4_000182" "g.94510286C>T" "" "{PMID:Fumagalli 2001:11702214}" "" "G978D" "" "Germline" "" "" "0" "" "" "g.94044730C>T" "" "likely pathogenic" ""
"0000121422" "11" "70" "1" "94487251" "94487251" "subst" "2.85679E-5" "01695" "ABCA4_000490" "g.94487251G>T" "ExAC 3, 113672, 0, 0.00002639" "{PMID:Fumagalli 2001:11702214}" "" "A1598D" "" "Germline" "" "" "0" "" "" "g.94021695G>T" "" "likely pathogenic" ""
"0000121423" "21" "70" "1" "94490567" "94490567" "subst" "5.68528E-5" "01695" "ABCA4_000026" "g.94490567G>A" "ExAC 4, 121406, 0, 0.00003295" "{PMID:Fumagalli 2001:11702214}" "" "T1526 M" "" "Germline" "" "" "0" "" "" "g.94025011G>A" "" "likely pathogenic" ""
"0000121424" "11" "70" "1" "94526296" "94526296" "subst" "1.64555E-5" "01695" "ABCA4_000768" "g.94526296G>A" "ExAC 1, 96614, 0, 0.00001035" "{PMID:Fumagalli 2001:11702214}" "" "R653C" "" "Germline" "" "" "0" "" "" "g.94060740G>A" "" "likely pathogenic" ""
"0000121425" "21" "70" "1" "94508353" "94508353" "subst" "2.8431E-5" "01695" "ABCA4_000141" "g.94508353G>A" "ExAC 4, 121358, 0, 0.00003296" "{PMID:Fumagalli 2001:11702214}" "" "R1098C" "" "Germline" "" "" "0" "" "" "g.94042797G>A" "" "likely pathogenic" ""
"0000121426" "21" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "ExAC 613, 121302, 4, 0.005054" "{PMID:Fumagalli 2001:11702214}" "" "G1961E" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic" ""
"0000121427" "11" "70" "1" "94543412" "94543413" "del" "0" "01695" "ABCA4_000313" "g.94543412_94543413del" "" "{PMID:Fumagalli 2001:11702214}" "" "1387delTT" "" "Germline" "" "" "0" "" "" "g.94077856_94077857del" "" "likely pathogenic" ""
"0000121428" "11" "70" "1" "94508933" "94508933" "subst" "2.43853E-5" "01695" "ABCA4_000134" "g.94508933C>T" "ExAC 3, 121300, 0, 0.00002473" "{PMID:Fumagalli 2001:11702214}" "" "G1050D" "" "Germline" "" "" "0" "" "" "g.94043377C>T" "" "likely pathogenic" ""
"0000121429" "0" "90" "1" "94458799" "94458799" "subst" "4.06964E-6" "01695" "ABCA4_000859" "g.94458799C>T" "" "{PMID:Stenirri 2004:15192030}" "" "6817–1G>A" "" "Germline" "" "" "0" "" "" "g.93993243C>T" "" "pathogenic" ""
"0000121430" "3" "70" "1" "94509026" "94509026" "subst" "4.06497E-5" "01695" "ABCA4_000660" "g.94509026G>A" "ExAC 5, 120988, 0, 0.00004133" "{PMID:Fumagalli 2001:11702214}" "" "T1019 M" "" "Germline" "" "" "0" "" "" "g.94043470G>A" "" "likely pathogenic" ""
"0000121431" "3" "70" "1" "94509026" "94509026" "subst" "4.06497E-5" "01695" "ABCA4_000660" "g.94509026G>A" "ExAC 5, 120988, 0, 0.00004133" "{PMID:Fumagalli 2001:11702214}" "" "T1019 M" "" "Germline" "" "" "0" "" "" "g.94043470G>A" "" "likely pathogenic" ""
"0000121432" "0" "50" "1" "94526154" "94526154" "subst" "4.06441E-6" "01695" "ABCA4_000752" "g.94526154C>T" "" "{PMID:Fumagalli 2001:11702214}" "" "W700X" "" "Germline" "" "" "0" "" "" "g.94060598C>T" "" "VUS" ""
"0000121433" "1" "50" "1" "94486794" "94486794" "subst" "0" "01695" "ABCA4_000478" "g.94486794A>G" "" "{PMID:Fumagalli 2001:11702214}" "" "5018+2T>C; G1961E" "" "Germline" "" "" "0" "" "" "g.94021238A>G" "" "VUS" ""
"0000121434" "1" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Fumagalli 2001:11702214}" "" "5018+2T>C; G1961E" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000121435" "0" "50" "1" "94574251" "94574251" "dup" "0" "01695" "ABCA4_000216" "g.94574251dup" "" "{PMID:Fumagalli 2001:11702214}" "" "323insT" "" "Germline" "" "" "0" "" "" "g.94108695dup" "" "VUS" ""
"0000121436" "0" "50" "1" "94466425" "94466425" "subst" "0" "01695" "ABCA4_000819" "g.94466425C>A" "" "{PMID:Fumagalli 2001:11702214}" "" "R2149L" "" "Germline" "" "" "0" "" "" "g.94000869C>A" "" "VUS" ""
"0000121437" "0" "50" "1" "94466425" "94466425" "subst" "0" "01695" "ABCA4_000819" "g.94466425C>A" "" "{PMID:Fumagalli 2001:11702214}" "" "R2149L" "" "Germline" "" "" "0" "" "" "g.94000869C>A" "" "VUS" ""
"0000121438" "0" "50" "1" "94466425" "94466425" "subst" "0" "01695" "ABCA4_000819" "g.94466425C>A" "" "{PMID:Fumagalli 2001:11702214}" "" "R2149L" "" "Germline" "" "" "0" "" "" "g.94000869C>A" "" "VUS" ""
"0000121439" "0" "50" "1" "94466425" "94466425" "subst" "0" "01695" "ABCA4_000819" "g.94466425C>A" "" "{PMID:Fumagalli 2001:11702214}" "" "R2149L" "" "Germline" "" "" "0" "" "" "g.94000869C>A" "" "VUS" ""
"0000121440" "0" "50" "1" "94466425" "94466425" "subst" "0" "01695" "ABCA4_000819" "g.94466425C>A" "" "{PMID:Fumagalli 2001:11702214}" "" "R2149L" "" "Germline" "" "" "0" "" "" "g.94000869C>A" "" "VUS" ""
"0000121441" "0" "50" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "ExAC 173, 121304, 0, 0.001426" "{PMID:Fumagalli 2001:11702214}" "" "A1038 V" "" "Germline" "" "" "0" "" "" "g.94043413G>A" "" "VUS" ""
"0000121442" "0" "50" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "ExAC 42, 120772, 0, 0.0003478" "{PMID:Fumagalli 2001:11702214}" "" "5714+5G>A" "" "Germline" "" "" "0" "" "" "g.94010795C>T" "" "VUS" ""
"0000121443" "21" "90" "1" "94520793" "94520793" "subst" "8.13292E-6" "01695" "ABCA4_000723" "g.94520793A>T" "ExAC 1, 121346, 0, 0.000008241" "{PMID:Fumagalli 2001:11702214}" "" "W821R" "" "Germline" "" "" "0" "" "" "g.94055237A>T" "" "pathogenic" ""
"0000121444" "11" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "ExAC 42, 120772, 0, 0.0003478" "{PMID:Fumagalli 2001:11702214}" "" "5714+5G>A" "" "Germline" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic" ""
"0000121445" "21" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "ExAC 613, 121302, 4, 0.005054" "{PMID:Fumagalli 2001:11702214}" "" "L541P; A1038 V; G1961E" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000121446" "11" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Fumagalli 2001:11702214}" "" "L541P; A1038 V; G1961E" "" "Germline" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000121447" "11" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Fumagalli 2001:11702214}" "" "L541P; A1038 V; G1961E" "" "Germline" "" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic" ""
"0000121448" "21" "70" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "ExAC 14, 120056, 0, 0.0001166" "{PMID:Fumagalli 2001:11702214}" "" "R212C ; L541P; A1038 V" "" "Germline" "" "" "0" "" "" "g.94098928G>A" "" "likely pathogenic" ""
"0000121449" "11" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Fumagalli 2001:11702214}" "" "R212C ; L541P; A1038 V" "" "Germline" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000121450" "11" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Fumagalli 2001:11702214}" "" "R212C ; L541P; A1038 V" "" "Germline" "" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic" ""
"0000121451" "11" "70" "1" "94508933" "94508933" "subst" "2.43853E-5" "01695" "ABCA4_000134" "g.94508933C>T" "ExAC 3, 121300, 0, 0.00002473" "{PMID:Fumagalli 2001:11702214}" "" "G1050D" "" "Germline" "" "" "0" "" "" "g.94043377C>T" "" "likely pathogenic" ""
"0000121452" "21" "70" "1" "94512533" "94512533" "subst" "0" "01695" "ABCA4_000133" "g.94512533A>C" "" "{PMID:Fumagalli 2001:11702214}" "" "Y954D" "" "Germline" "" "" "0" "" "" "g.94046977A>C" "" "likely pathogenic" ""
"0000121453" "11" "70" "1" "94508933" "94508933" "subst" "2.43853E-5" "01695" "ABCA4_000134" "g.94508933C>T" "ExAC 3, 121300, 0, 0.00002473" "{PMID:Fumagalli 2001:11702214}" "" "G1050D" "" "Germline" "" "" "0" "" "" "g.94043377C>T" "" "likely pathogenic" ""
"0000121454" "21" "70" "1" "94512533" "94512533" "subst" "0" "01695" "ABCA4_000133" "g.94512533A>C" "" "{PMID:Fumagalli 2001:11702214}" "" "Y954D" "" "Germline" "" "" "0" "" "" "g.94046977A>C" "" "likely pathogenic" ""
"0000121455" "21" "90" "1" "94487251" "94487251" "subst" "2.85679E-5" "01695" "ABCA4_000490" "g.94487251G>T" "ExAC 3, 113672, 0, 0.00002639" "{PMID:Fumagalli 2001:11702214}" "" "A1598D" "" "Germline" "" "" "0" "" "" "g.94021695G>T" "" "pathogenic" ""
"0000121456" "11" "70" "1" "94486858" "94486858" "subst" "0" "01695" "ABCA4_000482" "g.94486858A>C" "" "{PMID:Fumagalli 2001:11702214}" "" "Y1652X" "" "Germline" "" "" "0" "" "" "g.94021302A>C" "" "likely pathogenic" ""
"0000121457" "0" "90" "1" "94514466" "94514466" "subst" "0.00192081" "01695" "ABCA4_000008" "g.94514466T>C" "ExAC 212, 121284, 0, 0.001748" "{PMID:Birch 2001:11846518}" "" "A2701G" "" "Germline" "" "" "0" "" "" "g.94048910T>C" "" "pathogenic" ""
"0000121458" "0" "30" "1" "94487400" "94487400" "subst" "0" "01695" "ABCA4_000494" "g.94487400A>G" "" "{PMID:Birch 2001:11846518}" "" "exon 33 3\'Jxn+2" "" "Germline" "?" "" "0" "" "" "g.94021844A>G" "" "likely benign" ""
"0000121459" "3" "90" "1" "94577135" "94577135" "subst" "2.43718E-5" "01695" "ABCA4_000240" "g.94577135C>T" "ExAC 2, 121210, 0, 0.0000165" "{PMID:Birch 2001:11846518}" "" "G161A" "" "Germline" "yes" "" "0" "" "" "g.94111579C>T" "" "pathogenic" ""
"0000121460" "3" "90" "1" "94577135" "94577135" "subst" "2.43718E-5" "01695" "ABCA4_000240" "g.94577135C>T" "ExAC 2, 121210, 0, 0.0000165" "{PMID:Birch 2001:11846518}" "" "G161A" "" "Germline" "yes" "" "0" "" "" "g.94111579C>T" "" "pathogenic" ""
"0000121461" "21" "90" "1" "94564500" "94564500" "subst" "0.00100414" "01695" "ABCA4_000069" "g.94564500G>C" "ExAC 162, 118200, 0, 0.001371" "{PMID:Birch 2001:11846518}" "" "C618G" "" "Germline" "yes" "" "0" "" "" "g.94098944G>C" "" "pathogenic" ""
"0000121462" "11" "30" "1" "94576993" "94576993" "subst" "2.03513E-5" "01695" "ABCA4_000069" "g.94576993C>T" "ExAC 4, 119416, 0, 0.0000335" "{PMID:Birch 2001:11846518}" "" "exon 3 3\'Jxn+1" "" "Germline" "" "" "0" "" "" "g.94111437C>T" "" "likely benign" ""
"0000121463" "0" "90" "1" "94564500" "94564500" "subst" "0.00100414" "01695" "ABCA4_000069" "g.94564500G>C" "ExAC 162, 118200, 0, 0.001371" "{PMID:Birch 2001:11846518}" "" "T4169C" "" "Germline" "?" "" "0" "" "" "g.94098944G>C" "" "pathogenic" ""
"0000121464" "0" "30" "1" "94576993" "94576993" "subst" "2.03513E-5" "01695" "ABCA4_000069" "g.94576993C>T" "ExAC 4, 119416, 0, 0.0000335" "{PMID:Birch 2001:11846518}" "" "C1222T" "" "Germline" "" "" "0" "" "" "g.94111437C>T" "" "likely benign" ""
"0000121465" "0" "70" "1" "94486888" "94486888" "subst" "3.65548E-5" "01695" "ABCA4_000137" "g.94486888G>C" "ExAC 4, 121404, 0, 0.00003295" "{PMID:Birch 2001:11846518}" "" "C4926G" "" "Germline" "" "" "0" "" "" "g.94021332G>C" "" "likely pathogenic" ""
"0000121466" "0" "70" "1" "0" "0" "" "0" "01695" "ABCA4_000000" "g.?" "" "{PMID:Birch 2001:11846518}" "" "deletion" "" "Germline" "?" "" "0" "" "" "" "" "likely pathogenic" ""
"0000121467" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "ExAC 613, 121302, 4, 0.005054" "{PMID:Birch 2001:11846518}" "" "G5882A" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000121468" "0" "50" "1" "94466422" "94466422" "subst" "2.43651E-5" "01695" "ABCA4_000817" "g.94466422C>T" "ExAC 3, 121398, 0, 0.00002471" "{PMID:Birch 2001:11846518}" "" "G6449A" "" "Germline" "" "" "0" "" "" "g.94000866C>T" "" "VUS" ""
"0000121469" "0" "50" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "ExAC 21, 121302, 0, 0.0001731" "{PMID:Birch 2001:11846518}" "" "A2894G" "" "Germline" "" "" "0" "" "" "g.94046943T>C" "" "VUS" ""
"0000121470" "0" "50" "1" "94481401" "94481401" "subst" "4.09199E-6" "01695" "ABCA4_000460" "g.94481401A>G" "ExAC 1, 104532, 0, 0.000009566" "{PMID:Birch 2001:11846518}" "" "T5206C" "" "Germline" "" "" "0" "" "" "g.94015845A>G" "" "VUS" ""
"0000121471" "0" "90" "1" "94577135" "94577135" "subst" "2.43718E-5" "01695" "ABCA4_000240" "g.94577135C>T" "ExAC 2, 121210, 0, 0.0000165" "{PMID:Birch 2001:11846518}" "" "G161A" "" "Germline" "" "" "0" "" "" "g.94111579C>T" "" "pathogenic" ""
"0000121472" "0" "50" "1" "94485220" "94485220" "subst" "4.08938E-6" "01695" "ABCA4_000470" "g.94485220C>A" "" "{PMID:Birch 2001:11846518}" "" "G5115T" "" "Germline" "" "" "0" "" "" "g.94019664C>A" "" "VUS" ""
"0000121473" "0" "50" "1" "94564544" "94564544" "subst" "0.000432798" "01695" "ABCA4_000383" "g.94564544C>T" "ExAC 63, 98822, 0, 0.0006375" "{PMID:Birch 2001:11846518}" "" "G574A" "" "Germline" "" "" "0" "" "" "g.94098988C>T" "" "VUS" ""
"0000121474" "21" "90" "1" "94495078" "94495078" "subst" "8.37044E-6" "01695" "ABCA4_000042" "g.94495078A>G" "" "{PMID:Shroyer 2001:11726554}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94029522A>G" "" "pathogenic" ""
"0000121475" "11" "70" "1" "94496573" "94496574" "ins" "0" "01695" "ABCA4_001000" "g.94496573_94496574insATAC" "" "{PMID:Shroyer 2001:11726554}" "" "4232insTATG" "" "Germline" "" "" "0" "" "" "g.94031017_94031018insATAC" "" "likely pathogenic" ""
"0000121476" "3" "90" "1" "94495078" "94495078" "subst" "8.37044E-6" "01695" "ABCA4_000042" "g.94495078A>G" "ExAC 1, 70400, 0, 0.0000142" "{PMID:Shroyer 2001:11726554}" "" "4462T>C" "" "Germline" "yes" "" "0" "" "" "g.94029522A>G" "" "pathogenic" ""
"0000121478" "0" "50" "1" "94490567" "94490567" "subst" "5.68528E-5" "01695" "ABCA4_000026" "g.94490567G>A" "ExAC 4, 121406, 0, 0.00003295" "{PMID:Shroyer 2001:11726554}" "" "4577C>T" "" "Germline" "" "" "0" "" "" "g.94025011G>A" "" "VUS" ""
"0000121479" "0" "50" "1" "94490567" "94490567" "subst" "5.68528E-5" "01695" "ABCA4_000026" "g.94490567G>A" "ExAC 4, 121406, 0, 0.00003295" "{PMID:Shroyer 2001:11726554}" "" "4577C>T" "" "Germline" "" "" "0" "" "" "g.94025011G>A" "" "VUS" ""
"0000121480" "21" "90" "1" "94495078" "94495078" "subst" "8.37044E-6" "01695" "ABCA4_000042" "g.94495078A>G" "ExAC 1, 70400, 0, 0.0000142" "{PMID:Shroyer 2001:11726554}" "" "4462T>C" "" "Germline" "" "" "0" "" "" "g.94029522A>G" "" "pathogenic" ""
"0000121481" "11" "70" "1" "94486870" "94486870" "del" "0" "01695" "ABCA4_000483" "g.94486870del" "" "{PMID:Shroyer 2001:11726554}" "" "4947delC" "" "Germline" "yes" "" "0" "" "" "g.94021314del" "" "likely pathogenic" ""
"0000121482" "21" "90" "1" "94495078" "94495078" "subst" "8.37044E-6" "01695" "ABCA4_000042" "g.94495078A>G" "ExAC 1, 70400, 0, 0.0000142" "{PMID:Shroyer 2001:11726554}" "" "4462T>C" "" "Germline" "" "" "0" "" "" "g.94029522A>G" "" "pathogenic" ""
"0000121483" "11" "70" "1" "94486870" "94486870" "del" "0" "01695" "ABCA4_000483" "g.94486870del" "" "{PMID:Shroyer 2001:11726554}" "" "4947delC" "" "Germline" "yes" "" "0" "" "" "g.94021314del" "" "likely pathogenic" ""
"0000121484" "1" "50" "1" "94496589" "94496589" "subst" "0" "01695" "ABCA4_000569" "g.94496589G>C" "" "{PMID:Shroyer 2001:11726554}" "" "4216C>T, 6148G>C" "" "Germline" "" "" "0" "" "" "g.94031033G>C" "" "VUS" ""
"0000121485" "1" "50" "1" "94467548" "94467548" "subst" "0.00295661" "01695" "ABCA4_000788" "g.94467548C>G" "" "{PMID:Shroyer 2001:11726554}" "" "4216C>T, 6148G>C" "" "Germline" "" "" "0" "" "" "g.94001992C>G" "" "VUS" ""
"0000121486" "1" "50" "1" "94496589" "94496589" "subst" "0" "01695" "ABCA4_000569" "g.94496589G>C" "" "{PMID:Shroyer 2001:11726554}" "" "4216C>T, 6148G>C" "" "Germline" "" "" "0" "" "" "g.94031033G>C" "" "VUS" ""
"0000121487" "1" "50" "1" "94467548" "94467548" "subst" "0.00295661" "01695" "ABCA4_000788" "g.94467548C>G" "" "{PMID:Shroyer 2001:11726554}" "" "4216C>T, 6148G>C" "" "Germline" "" "" "0" "" "" "g.94001992C>G" "" "VUS" ""
"0000121488" "21" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "ExAC 613, 121302, 4, 0.005054" "{PMID:Shroyer 2001:11726554}, {PMID:Lewis 1999:9973280}" "" "5882G>A" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "pathogenic" ""
"0000121489" "11" "70" "1" "94526092" "94526092" "subst" "0" "01695" "ABCA4_000748" "g.94526092C>G" "" "{PMID:Shroyer 2001:11726554}, {PMID:Lewis 1999:9973280}" "" "2160+1G>C" "" "Germline" "" "" "0" "" "" "g.94060536C>G" "" "likely pathogenic" ""
"0000121490" "21" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "ExAC 613, 121302, 4, 0.005054" "{PMID:Shroyer 2001:11726554}" "" "5882G>A" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "pathogenic" ""
"0000121491" "11" "70" "1" "94526092" "94526092" "subst" "0" "01695" "ABCA4_000748" "g.94526092C>G" "" "{PMID:Shroyer 2001:11726554}" "" "2160+1G>C" "" "Germline" "" "" "0" "" "" "g.94060536C>G" "" "likely pathogenic" ""
"0000121492" "21" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "ExAC 613, 121302, 4, 0.005054" "{PMID:Shroyer 2001:11726554}" "" "5882G>A" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "pathogenic" ""
"0000121493" "11" "70" "1" "94526092" "94526092" "subst" "0" "01695" "ABCA4_000748" "g.94526092C>G" "" "{PMID:Shroyer 2001:11726554}" "" "2160+1G>C" "" "Germline" "" "" "0" "" "" "g.94060536C>G" "" "likely pathogenic" ""
"0000121494" "0" "50" "1" "94520793" "94520793" "subst" "8.13292E-6" "01695" "ABCA4_000723" "g.94520793A>T" "ExAC 1, 121346, 0, 0.000008241" "{PMID:Shroyer 2001:11726554}" "" "2461T>A" "" "Germline" "" "" "0" "" "" "g.94055237A>T" "" "VUS" ""
"0000121495" "21" "70" "1" "94508386" "94508386" "subst" "1.62443E-5" "01695" "ABCA4_000642" "g.94508386C>T" "ExAC 4, 121376, 0, 0.00003296" "{PMID:Shroyer 2001:11726554}" "" "3259G>A" "" "Germline" "yes" "" "0" "" "" "g.94042830C>T" "" "likely pathogenic" ""
"0000121496" "11" "70" "1" "94577093" "94577093" "subst" "0" "01695" "ABCA4_000178" "g.94577093G>C" "" "{PMID:Shroyer 2001:11726554}" "" "0203C>G" "" "Germline" "" "" "0" "" "" "g.94111537G>C" "" "likely pathogenic" ""
"0000121497" "21" "70" "1" "94508386" "94508386" "subst" "1.62443E-5" "01695" "ABCA4_000642" "g.94508386C>T" "ExAC 4, 121376, 0, 0.00003296" "{PMID:Shroyer 2001:11726554}" "" "3259G>A" "" "Germline" "yes" "" "0" "" "" "g.94042830C>T" "" "likely pathogenic" ""
"0000121498" "11" "70" "1" "94577093" "94577093" "subst" "0" "01695" "ABCA4_000178" "g.94577093G>C" "" "{PMID:Shroyer 2001:11726554}" "" "0203C>G" "" "Germline" "" "" "0" "" "" "g.94111537G>C" "" "likely pathogenic" ""
"0000121499" "0" "50" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "ExAC 14, 121282, 0, 0.0001154" "{PMID:Shroyer 2001:11726554}" "" "3322C>T" "" "Germline" "" "" "0" "" "" "g.94042767G>A" "" "VUS" ""
"0000121500" "11" "90" "1" "94466658" "94466658" "subst" "8.14817E-6" "01695" "ABCA4_000132" "g.94466658C>T" "ExAC 1, 120798, 0, 0.000008278" "{PMID:Shroyer 2001:11726554}" "" "6286G>A" "" "Germline" "yes" "" "0" "" "" "g.94001102C>T" "" "pathogenic" ""
"0000121501" "21" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "ExAC 42, 120772, 0, 0.0003478" "{PMID:Shroyer 2001:11726554}" "" "5714+5G>A" "" "Germline" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic" ""
"0000121502" "11" "90" "1" "94466658" "94466658" "subst" "8.14817E-6" "01695" "ABCA4_000132" "g.94466658C>T" "ExAC 1, 120798, 0, 0.000008278" "{PMID:Shroyer 2001:11726554}" "" "6286G>A" "" "Germline" "yes" "" "0" "" "" "g.94001102C>T" "" "pathogenic" ""
"0000121503" "21" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "ExAC 42, 120772, 0, 0.0003478" "{PMID:Shroyer 2001:11726554}" "" "5714+5G>A" "" "Germline" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic" ""
"0000121504" "11" "90" "1" "94485137" "94485137" "subst" "0" "01695" "ABCA4_000464" "g.94485137C>T" "ExAC 3, 49858, 0, 0.00006017" "{PMID:Shroyer 2001:11726554}" "" "5196+1G>A" "" "Germline" "" "" "0" "" "" "g.94019581C>T" "" "pathogenic" ""
"0000121505" "21" "90" "1" "94476486" "94476486" "subst" "0" "01695" "ABCA4_000423" "g.94476486C>T" "" "{PMID:Shroyer 2001:11726554}" "" "5585-1G>A" "" "Germline" "yes" "" "0" "" "" "g.94010930C>T" "" "pathogenic" ""
"0000121506" "11" "90" "1" "94485137" "94485137" "subst" "0" "01695" "ABCA4_000464" "g.94485137C>T" "ExAC 3, 49858, 0, 0.00006017" "{PMID:Shroyer 2001:11726554}" "" "5196+1G>A" "" "Germline" "" "" "0" "" "" "g.94019581C>T" "" "pathogenic" ""
"0000121507" "21" "90" "1" "94476486" "94476486" "subst" "0" "01695" "ABCA4_000423" "g.94476486C>T" "" "{PMID:Shroyer 2001:11726554}" "" "5585-1G>A" "" "Germline" "yes" "" "0" "" "" "g.94010930C>T" "" "pathogenic" ""
"0000121508" "11" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "ExAC 24, 119274, 0, 0.0002012" "{PMID:Shroyer 2001:11726554}" "" "4139C>T" "" "Germline" "yes" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic" ""
"0000121509" "21" "70" "1" "94502756" "94502756" "subst" "0.000422575" "01695" "ABCA4_000032" "g.94502756G>A" "" "{PMID:Shroyer 2001:11726554}" "" "3758C>T, 5882G>A" "" "Germline" "" "" "0" "" "" "g.94037200G>A" "" "likely pathogenic" ""
"0000121510" "21" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Shroyer 2001:11726554}" "" "3758C>T, 5882G>A" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000121511" "11" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "ExAC 24, 119274, 0, 0.0002012" "{PMID:Shroyer 2001:11726554}" "" "4139C>T" "" "Germline" "yes" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic" ""
"0000121512" "21" "70" "1" "94502756" "94502756" "subst" "0.000422575" "01695" "ABCA4_000032" "g.94502756G>A" "" "{PMID:Shroyer 2001:11726554}" "" "3758C>T, 5882G>A" "" "Germline" "" "" "0" "" "" "g.94037200G>A" "" "likely pathogenic" ""
"0000121513" "21" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Shroyer 2001:11726554}" "" "3758C>T, 5882G>A" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000121514" "3" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "ExAC 24, 119274, 0, 0.0002012" "{PMID:Shroyer 2001:11726554}" "" "4139C>T" "" "Germline" "?" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic" ""
"0000121515" "21" "70" "1" "94528780" "94528780" "subst" "4.06171E-6" "01695" "ABCA4_000299" "g.94528780C>T" "ExAC 1, 121410, 0, 0.000008237" "{PMID:Shroyer 2001:11726554}" "" "1648G>A" "" "Germline" "" "" "0" "" "" "g.94063224C>T" "" "likely pathogenic" ""
"0000121516" "11" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "ExAC 26, 121404, 0, 0.0002142" "{PMID:Shroyer 2001:11726554}" "" "6079C>T" "" "Germline" "yes" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic" ""
"0000121517" "21" "30" "1" "94510164" "94510164" "subst" "1.62441E-5" "01695" "ABCA4_000144" "g.94510164C>T" "ExAC 2, 121386, 0, 0.00001648" "{PMID:Shroyer 2001:11726554}" "" "3050+5G>A" "" "Germline" "" "" "0" "" "" "g.94044608C>T" "" "likely benign" ""
"0000121518" "11" "90" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "ExAC 227, 121250, 3, 0.001872" "{PMID:Shroyer 2001:11726554}" "" "6320G>A" "" "Germline" "yes" "" "0" "" "" "g.94001068C>T" "" "pathogenic" ""
"0000121519" "11" "90" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "ExAC 26, 121404, 0, 0.0002142" "{PMID:Shroyer 2001:11726554}" "" "6079C>T" "" "Germline" "yes" "" "0" "" "" "g.94005509G>A" "" "pathogenic" ""
"0000121520" "21" "70" "1" "94485136" "94485136" "subst" "0" "01695" "ABCA4_000189" "g.94485136A>G" "" "{PMID:Shroyer 2001:11726554}" "" "5196+2" "" "Germline" "" "" "0" "" "" "g.94019580A>G" "" "likely pathogenic" ""
"0000121521" "21" "70" "1" "94577135" "94577135" "subst" "2.43718E-5" "01695" "ABCA4_000240" "g.94577135C>T" "ExAC 2, 121210, 0, 0.0000165" "{PMID:Shroyer 2001:11726554}" "" "161G>A" "" "Germline" "" "" "0" "" "" "g.94111579C>T" "" "likely pathogenic" ""
"0000121522" "11" "90" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "ExAC 24, 119274, 0, 0.0002012" "{PMID:Shroyer 2001:11726554}" "" "4139C>T" "" "Germline" "yes" "" "0" "" "" "g.94031110G>A" "" "pathogenic" ""
"0000121523" "0" "50" "1" "94564442" "94564454" "del" "0" "01695" "ABCA4_000377" "g.94564442_94564454del" "" "{PMID:Shroyer 2001:11726554}" "" "664del13" "" "Germline" "" "" "0" "" "" "g.94098886_94098898del" "" "VUS" ""
"0000121524" "0" "70" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "ExAC 14, 120056, 0, 0.0001166" "{PMID:Shroyer 2001:11726554}" "" "R212C" "" "Germline" "" "" "0" "" "" "g.94098928G>A" "" "likely pathogenic" ""
"0000121525" "0" "70" "1" "94466605" "94466605" "subst" "0" "01695" "ABCA4_000157" "g.94466605G>C" "" "{PMID:Shroyer 2001:11726554}" "" "I2113M" "" "Germline" "" "" "0" "" "" "g.94001049G>C" "" "likely pathogenic" ""
"0000121526" "0" "30" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "ExAC 14, 121282, 0, 0.0001154" "{PMID:Shroyer 2001:11726554}" "" "R1108C" "" "Germline" "" "" "0" "" "" "g.94042767G>A" "" "likely benign" ""
"0000121527" "0" "70" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "ExAC 227, 121250, 3, 0.001872" "{PMID:Shroyer 2001:11726554}" "" "R2107H" "" "Germline" "" "" "0" "" "" "g.94001068C>T" "" "likely pathogenic" ""
"0000121528" "0" "70" "1" "94473266" "94473266" "subst" "8.14677E-6" "01695" "ABCA4_000389" "g.94473266C>T" "ExAC 1, 120422, 0, 0.000008304" "{PMID:Shroyer 2001:11726554}" "" "G1977S" "" "Germline" "" "" "0" "" "" "g.94007710C>T" "" "likely pathogenic" ""
"0000121529" "0" "70" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "ExAC 14, 120056, 0, 0.0001166" "{PMID:Shroyer 2001:11726554}" "" "R212C" "" "Germline" "" "" "0" "" "" "g.94098928G>A" "" "likely pathogenic" ""
"0000121530" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Klevering 2002:12037008}" "" "1622T>C; 3113C>T" "" "Germline" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000121531" "1" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Klevering 2002:12037008}" "" "1622T>C; 3113C>T" "" "Germline" "" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic" ""
"0000121532" "0" "70" "1" "94577102" "94577102" "subst" "4.06161E-6" "01695" "ABCA4_000033" "g.94577102C>T" "" "{PMID:Klevering 2002:12037008}" "" "194G>A" "" "Germline" "" "" "0" "" "" "g.94111546C>T" "" "likely pathogenic" ""
"0000121533" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Klevering 2002:12037008}" "" "1622T>C; 3113C>T" "" "Germline" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000121534" "1" "50" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Klevering 2002:12037008}" "" "1622T>C; 3113C>T" "" "Germline" "" "" "0" "" "" "g.94043413G>A" "" "VUS" ""
"0000121535" "0" "50" "1" "94463547" "94463548" "del" "0" "01695" "ABCA4_000804" "g.94463547_94463548del" "" "{PMID:Klevering 2002:12037008}" "" "6601-6602deIAG" "" "Germline" "" "" "0" "" "" "g.93997991_93997992del" "" "VUS" ""
"0000121536" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Klevering 2002:12037008}" "" "1622T>C; 3113C>T" "" "Germline" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000121537" "1" "50" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Klevering 2002:12037008}" "" "1622T>C; 3113C>T" "" "Germline" "" "" "0" "" "" "g.94043413G>A" "" "VUS" ""
"0000121538" "3" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Klevering 2002:12037008}" "" "1622T>C; 3113C>T" "" "Germline" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000121539" "3" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Klevering 2002:12037008}" "" "1622T>C; 3113C>T" "" "Germline" "" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic" ""
"0000121540" "1" "50" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "ExAC 13, 121216, 0, 0.0001072" "{PMID:Klevering 2002:12037008}, {PMID:Sangermano 2019:30643219}" "" "768G>T" "" "Germline" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000121541" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "ExAC 601, 118484, 2, 0.005072" "{PMID:Klevering 2002:12037008}" "" "2588G>C" "" "Germline" "" "rs76157638" "0" "" "" "g.94051698C>G" "" "pathogenic" ""
"0000121542" "0" "90" "1" "94485316" "94485319" "del" "0" "01695" "ABCA4_000477" "g.94485316_94485319del" "" "{PMID:Klevering 2002:12037008}" "" "IVS35del-2> +2del4" "" "Germline" "" "" "0" "" "" "g.94019760_94019763del" "" "pathogenic" ""
"0000121543" "0" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "ExAC 12, 60116, 0, 0.0001996" "{PMID:Klevering 2002:12037008}" "" "4469G>A" "" "Germline" "" "" "0" "" "" "g.94029515C>T" "" "likely pathogenic" ""
"0000121544" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Klevering 2002:12037008}" "" "1622T>C; 3113C>T" "" "Germline" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000121545" "1" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Klevering 2002:12037008}" "" "1622T>C; 3113C>T" "" "Germline" "" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic" ""
"0000121546" "0" "50" "1" "94506923" "94506923" "subst" "2.43657E-5" "01695" "ABCA4_000012" "g.94506923C>T" "ExAC 3, 121394, 0, 0.00002471" "{PMID:Klevering 2002:12037008}" "" "3364G>A" "" "Germline" "" "" "0" "" "" "g.94041367C>T" "" "VUS" ""
"0000121547" "0" "90" "1" "94495000" "94495000" "subst" "0" "01695" "ABCA4_000164" "g.94495000C>A" "" "{PMID:Klevering 2002:12037008}" "" "IVS30 +1G>T" "" "Germline" "" "" "0" "" "" "g.94029444C>A" "" "pathogenic" ""
"0000121548" "0" "90" "1" "94508997" "94508997" "subst" "0" "01695" "ABCA4_000112" "g.94508997G>A" "" "{PMID:Klevering 2002:12037008}" "" "3085C>T" "" "Germline" "" "" "0" "" "" "g.94043441G>A" "" "pathogenic" ""
"0000121549" "0" "50" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "ExAC 14, 120056, 0, 0.0001166" "{PMID:Klevering 2002:12037008}" "" "634C>T" "" "Germline" "" "" "0" "" "" "g.94098928G>A" "" "VUS" ""
"0000121550" "0" "70" "1" "94485137" "94485137" "subst" "0" "01695" "ABCA4_000464" "g.94485137C>T" "ExAC 3, 49858, 0, 0.00006017" "{PMID:Klevering 2002:12037008}" "" "IVS36+1G>A" "" "Germline" "" "" "0" "" "" "g.94019581C>T" "" "likely pathogenic" ""
"0000121551" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Klevering 2002:12037008}" "" "1622T>C; 3113C>T" "" "Germline" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000121552" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Klevering 2002:12037008}" "" "1622T>C; 3113C>T" "" "Germline" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic" ""
"0000121553" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "ExAC 613, 121302, 4, 0.005054" "{PMID:Gerth 2002:12192456}" "" "5882G→A" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "pathogenic" ""
"0000121554" "0" "70" "1" "94522244" "94522247" "delins" "0" "01695" "ABCA4_000739" "g.94522244_94522247delinsCCT" "" "{PMID:Gerth 2002:12192456}" "" "2292delT-2295T→G" "" "Germline" "?" "" "0" "" "" "g.94056688_94056691delinsCCT" "" "likely pathogenic" ""
"0000121555" "0" "70" "1" "94485137" "94485137" "subst" "0" "01695" "ABCA4_000464" "g.94485137C>T" "ExAC 3, 49858, 0, 0.00006017" "{PMID:Gerth 2002:12192456}" "" "IVS36+1G→A" "" "Germline" "?" "" "0" "" "" "g.94019581C>T" "" "likely pathogenic" ""
"0000121556" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "ExAC 613, 121302, 4, 0.005054" "{PMID:Gerth 2002:12192456}" "" "5882G→A" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "pathogenic" ""
"0000121557" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "ExAC 613, 121302, 4, 0.005054" "{PMID:Gerth 2002:12192456}" "" "5882G→A" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000121558" "0" "70" "1" "94471022" "94471022" "subst" "0" "01695" "ABCA4_000790" "g.94471022C>T" "" "{PMID:Gerth 2002:12192456}" "" "2041C→T" "" "Germline" "?" "" "0" "" "" "g.94005466C>T" "" "likely pathogenic" ""
"0000121559" "11" "90" "1" "94528666" "94528666" "subst" "0" "01695" "ABCA4_000289" "g.94528666A>C" "" "{PMID:Fukui 2002:12202497}" "" "IVS12+2T>G" "" "Germline" "" "" "0" "" "" "g.94063110A>C" "" "pathogenic" ""
"0000121560" "21" "90" "1" "94546181" "94546319" "delins" "0" "01695" "ABCA4_000349" "g.94546181_94546319delinsGGTCAGA" "" "{PMID:Fukui 2002:12202497}" "" "IVS7-45_952delinsTCTGACC" "" "Germline" "yes" "" "0" "" "" "g.94080625_94080763delinsGGTCAGA" "" "pathogenic" ""
"0000121561" "11" "90" "1" "94528666" "94528666" "subst" "0" "01695" "ABCA4_000289" "g.94528666A>C" "" "{PMID:Fukui 2002:12202497}" "" "IVS12+2T>G" "" "Germline" "" "" "0" "" "" "g.94063110A>C" "" "pathogenic" ""
"0000121562" "21" "90" "1" "94546181" "94546319" "delins" "0" "01695" "ABCA4_000349" "g.94546181_94546319delinsGGTCAGA" "" "{PMID:Fukui 2002:12202497}" "" "IVS7-45_952delinsTCTGACC" "" "Germline" "yes" "" "0" "" "" "g.94080625_94080763delinsGGTCAGA" "" "pathogenic" ""
"0000121563" "3" "90" "1" "94546181" "94546319" "delins" "0" "01695" "ABCA4_000349" "g.94546181_94546319delinsGGTCAGA" "" "{PMID:Fukui 2002:12202497}" "" "IVS7-45_952delinsTCTGACC" "" "Germline" "yes" "" "0" "" "" "g.94080625_94080763delinsGGTCAGA" "" "pathogenic" ""
"0000121564" "3" "90" "1" "94528666" "94528666" "subst" "0" "01695" "ABCA4_000289" "g.94528666A>C" "" "{PMID:Fukui 2002:12202497}" "" "IVS12+2T>G" "" "Germline" "yes" "" "0" "" "" "g.94063110A>C" "" "pathogenic" ""
"0000121565" "3" "90" "1" "94528666" "94528666" "subst" "0" "01695" "ABCA4_000289" "g.94528666A>C" "" "{PMID:Fukui 2002:12202497}" "" "IVS12+2T>G" "" "Germline" "?" "" "0" "" "" "g.94063110A>C" "" "pathogenic" ""
"0000121566" "10" "90" "1" "94528666" "94528666" "subst" "0" "01695" "ABCA4_000289" "g.94528666A>C" "" "{PMID:Fukui 2002:12202497}" "" "IVS12+2T>G" "" "Germline" "" "" "0" "" "" "g.94063110A>C" "" "pathogenic" ""
"0000121567" "21" "70" "1" "94528177" "94528177" "del" "0" "01695" "ABCA4_000269" "g.94528177del" "" "{PMID:Fukui 2002:12202497}" "" "1894delA" "" "Germline" "?" "" "0" "" "" "g.94062621del" "" "likely pathogenic" ""
"0000121568" "10" "90" "1" "94528666" "94528666" "subst" "0" "01695" "ABCA4_000289" "g.94528666A>C" "" "{PMID:Fukui 2002:12202497}" "" "IVS12+2T>G" "" "Germline" "" "" "0" "" "" "g.94063110A>C" "" "pathogenic" ""
"0000121569" "21" "70" "1" "94528177" "94528177" "del" "0" "01695" "ABCA4_000269" "g.94528177del" "" "{PMID:Fukui 2002:12202497}" "" "1894delA" "" "Germline" "?" "" "0" "" "" "g.94062621del" "" "likely pathogenic" ""
"0000121570" "3" "70" "1" "94528666" "94528666" "subst" "0" "01695" "ABCA4_000289" "g.94528666A>C" "" "{PMID:Fukui 2002:12202497}" "" "IVS12+2T>G" "" "Germline" "?" "" "0" "" "" "g.94063110A>C" "" "likely pathogenic" ""
"0000121571" "3" "70" "1" "94528666" "94528666" "subst" "0" "01695" "ABCA4_000289" "g.94528666A>C" "" "{PMID:Fukui 2002:12202497}" "" "IVS12+2T>G" "" "Germline" "?" "" "0" "" "" "g.94063110A>C" "" "likely pathogenic" ""
"0000121572" "0" "70" "1" "94508353" "94508353" "subst" "2.8431E-5" "01695" "ABCA4_000141" "g.94508353G>A" "ExAC 4, 121358, 0, 0.00003296" "{PMID:Paloma 2002:12442277}" "" "R1097C" "" "Germline" "?" "" "0" "" "" "g.94042797G>A" "" "likely pathogenic" ""
"0000121573" "0" "70" "1" "94528769" "94528769" "subst" "0" "01695" "ABCA4_000140" "g.94528769G>C" "" "{PMID:Paloma 2002:12442277}" "" "F553L" "" "Germline" "" "" "0" "" "" "g.94063213G>C" "" "likely pathogenic" ""
"0000121574" "3" "70" "1" "94474323" "94474323" "subst" "2.03034E-5" "01695" "ABCA4_000156" "g.94474323A>G" "ExAC 1, 121410, 0, 0.000008237" "{PMID:Paloma 2002:12442277}" "" "L1940P" "" "Germline" "?" "" "0" "" "" "g.94008767A>G" "" "likely pathogenic" ""
"0000121575" "11" "70" "1" "94474323" "94474323" "subst" "2.03034E-5" "01695" "ABCA4_000156" "g.94474323A>G" "ExAC 1, 121410, 0, 0.000008237" "{PMID:Paloma 2002:12442277}" "" "L1940P" "" "Germline" "" "" "0" "" "" "g.94008767A>G" "" "likely pathogenic" ""
"0000121576" "21" "70" "1" "94508353" "94508353" "subst" "2.8431E-5" "01695" "ABCA4_000141" "g.94508353G>A" "ExAC 4, 121358, 0, 0.00003296" "{PMID:Paloma 2002:12442277}" "" "R1097C" "" "Germline" "yes" "" "0" "" "" "g.94042797G>A" "" "likely pathogenic" ""
"0000121577" "11" "70" "1" "94474323" "94474323" "subst" "2.03034E-5" "01695" "ABCA4_000156" "g.94474323A>G" "ExAC 1, 121410, 0, 0.000008237" "{PMID:Paloma 2002:12442277}" "" "L1940P" "" "Germline" "" "" "0" "" "" "g.94008767A>G" "" "likely pathogenic" ""
"0000121578" "21" "70" "1" "94508353" "94508353" "subst" "2.8431E-5" "01695" "ABCA4_000141" "g.94508353G>A" "ExAC 4, 121358, 0, 0.00003296" "{PMID:Paloma 2002:12442277}" "" "R1097C" "" "Germline" "yes" "" "0" "" "" "g.94042797G>A" "" "likely pathogenic" ""
"0000121579" "11" "70" "1" "94474323" "94474323" "subst" "2.03034E-5" "01695" "ABCA4_000156" "g.94474323A>G" "ExAC 1, 121410, 0, 0.000008237" "{PMID:Paloma 2002:12442277}" "" "L1940P" "" "Germline" "" "" "0" "" "" "g.94008767A>G" "" "likely pathogenic" ""
"0000121580" "21" "70" "1" "94528769" "94528769" "subst" "0" "01695" "ABCA4_000140" "g.94528769G>C" "" "{PMID:Paloma 2002:12442277}" "" "F553L" "" "Germline" "yes" "" "0" "" "" "g.94063213G>C" "" "likely pathogenic" ""
"0000121581" "11" "70" "1" "94474323" "94474323" "subst" "2.03034E-5" "01695" "ABCA4_000156" "g.94474323A>G" "ExAC 1, 121410, 0, 0.000008237" "{PMID:Paloma 2002:12442277}" "" "L1940P" "" "Germline" "" "" "0" "" "" "g.94008767A>G" "" "likely pathogenic" ""
"0000121582" "21" "70" "1" "94528769" "94528769" "subst" "0" "01695" "ABCA4_000140" "g.94528769G>C" "" "{PMID:Paloma 2002:12442277}" "" "F553L" "" "Germline" "yes" "" "0" "" "" "g.94063213G>C" "" "likely pathogenic" ""
"0000121583" "11" "70" "1" "94474323" "94474323" "subst" "2.03034E-5" "01695" "ABCA4_000156" "g.94474323A>G" "ExAC 1, 121410, 0, 0.000008237" "{PMID:Paloma 2002:12442277}" "" "L1940P" "" "Germline" "" "" "0" "" "" "g.94008767A>G" "" "likely pathogenic" ""
"0000121584" "21" "70" "1" "94508353" "94508353" "subst" "2.8431E-5" "01695" "ABCA4_000141" "g.94508353G>A" "ExAC 4, 121358, 0, 0.00003296" "{PMID:Paloma 2002:12442277}" "" "R1097C" "" "Germline" "yes" "" "0" "" "" "g.94042797G>A" "" "likely pathogenic" ""
"0000121585" "3" "70" "1" "94480146" "94480146" "subst" "2.84273E-5" "01695" "ABCA4_000122" "g.94480146T>C" "ExAC 2, 121410, 0, 0.00001647" "{PMID:Paloma 2002:12442277}" "" "N1805D" "" "Germline" "yes" "" "0" "" "" "g.94014590T>C" "" "likely pathogenic" ""
"0000121586" "10" "50" "1" "94480146" "94480146" "subst" "2.84273E-5" "01695" "ABCA4_000122" "g.94480146T>C" "ExAC 2, 121410, 0, 0.00001647" "{PMID:Paloma 2002:12442277}" "" "N1805D" "" "Germline" "" "" "0" "" "" "g.94014590T>C" "" "VUS" ""
"0000121587" "0" "50" "1" "94577010" "94577010" "subst" "1.22004E-5" "01695" "ABCA4_000224" "g.94577010T>C" "ExAC 3, 119734, 0, 0.00002506" "{PMID:Ducroq 2002:12515255}" "" "AAC 286 GAC" "" "Germline" "" "" "0" "" "" "g.94111454T>C" "" "VUS" ""
"0000121588" "0" "50" "1" "94568675" "94568675" "subst" "0.00146249" "01695" "ABCA4_000210" "g.94568675T>C" "ExAC 159, 120956, 0, 0.001315" "{PMID:Ducroq 2002:12515255}" "" "ATC 466 GTC" "On its own not significantely found more often in published STGD compared to ExAC (p-value 0.50). However, together with other non-significant variants published related to STGD, they are significantly more often in STGD patients (p-value <0.01)." "Germline" "" "" "0" "" "" "g.94103119T>C" "" "VUS" ""
"0000121589" "0" "70" "1" "94568675" "94568675" "subst" "0.00146249" "01695" "ABCA4_000210" "g.94568675T>C" "ExAC 159, 120956, 0, 0.001315" "{PMID:Ducroq 2002:12515255}" "" "ATC 466 GTC" "On its own not significantely found more often in published STGD compared to ExAC (p-value 0.50). However, together with other non-significant variants published related to STGD, they are significantly more often in STGD patients (p-value <0.01)." "Germline" "" "" "0" "" "" "g.94103119T>C" "" "likely pathogenic" ""
"0000121590" "0" "30" "1" "94528251" "94528251" "subst" "2.84824E-5" "01695" "ABCA4_000281" "g.94528251C>T" "ExAC 3, 119908, 0, 0.00002502" "{PMID:Ducroq 2002:12515255}" "" "GGG 1819 AGG" "" "Germline" "?" "" "0" "" "" "g.94062695C>T" "" "likely benign" ""
"0000121591" "1" "50" "1" "94568686" "94568686" "subst" "0.00258122" "01695" "ABCA4_000212" "g.94568686C>T" "" "{PMID:Ducroq 2002:12515255}" "" "CGA 455 CAA 5084_x0001_1G/A" "" "Germline" "" "" "0" "" "" "g.94103130C>T" "" "VUS" ""
"0000121592" "1" "70" "1" "94476817" "94476817" "subst" "4.06458E-6" "01695" "ABCA4_000427" "g.94476817C>T" "" "{PMID:Ducroq 2002:12515255}" "" "CGA 455 CAA 5084_x0001_1G/A" "" "Germline" "" "" "0" "" "" "g.94011261C>T" "" "likely pathogenic" ""
"0000121593" "1" "50" "1" "94508322" "94508322" "subst" "1.62513E-5" "01695" "ABCA4_000128" "g.94508322C>T" "" "{PMID:Ducroq 2002:12515255}" "" "CGC 3323 TGC AGT 6764 ATT" "" "Germline" "?" "" "0" "" "" "g.94042766C>T" "" "VUS" ""
"0000121594" "1" "90" "1" "94461717" "94461717" "subst" "0.0703199" "01695" "ABCA4_000003" "g.94461717C>A" "" "{PMID:Ducroq 2002:12515255}" "" "CGC 3323 TGC AGT 6764 ATT" "" "Germline" "?" "" "0" "" "" "g.93996161C>A" "" "pathogenic" ""
"0000121595" "0" "50" "1" "94564355" "94564355" "subst" "0.000105612" "01695" "ABCA4_000365" "g.94564355G>A" "ExAC 12, 121236, 0, 0.00009898" "{PMID:Ducroq 2002:12515255}" "" "CGT 764 TGT" "On its own not significantely found more often in published STGD compared to ExAC (p-value 0.22). However, together with other non-significant variants published related to STGD, they are significantly more often in STGD patients (p-value <0.01)." "Germline" "" "" "0" "" "" "g.94098799G>A" "" "VUS" ""
"0000121596" "0" "50" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "ExAC 173, 121304, 0, 0.001426" "{PMID:Ducroq 2002:12515255}" "" "GCC 3113 GTC" "" "Germline" "" "" "0" "" "" "g.94043413G>A" "" "VUS" ""
"0000121597" "0" "30" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "ExAC 173, 121304, 0, 0.001426" "{PMID:Ducroq 2002:12515255}" "" "CTG 3602 CGG" "" "Germline" "" "" "0" "" "" "g.94043413G>A" "" "likely benign" ""
"0000121598" "0" "30" "1" "94461717" "94461717" "subst" "0.0703199" "01695" "ABCA4_000003" "g.94461717C>A" "ExAC 9726, 121220, 1412, 0.08023" "{PMID:Ducroq 2002:12515255}" "" "AGT 6764 ATT" "" "Germline" "?" "" "0" "" "" "g.93996161C>A" "" "likely benign" ""
"0000121599" "0" "50" "1" "94473287" "94473287" "subst" "0.00293818" "01695" "ABCA4_000395" "g.94473287G>A" "ExAC 352, 120336, 1, 0.002925" "{PMID:Ducroq 2002:12515255}" "" "CTC 5908 TTC" "" "Germline" "" "" "0" "" "" "g.94007731G>A" "" "VUS" ""
"0000121600" "0" "50" "1" "94461717" "94461717" "subst" "0.0703199" "01695" "ABCA4_000003" "g.94461717C>A" "ExAC 9726, 121220, 1412, 0.08023" "{PMID:Ducroq 2002:12515255}" "" "AGT 6764 ATT" "" "Germline" "" "" "0" "" "" "g.93996161C>A" "" "VUS" ""
"0000121601" "0" "50" "1" "94508386" "94508386" "subst" "0" "01695" "ABCA4_000643" "g.94508386C>A" "" "{PMID:Ducroq 2002:12515255}" "" "GAA 3259 TAA" "" "Germline" "" "" "0" "" "" "g.94042830C>A" "" "VUS" ""
"0000121602" "3" "90" "1" "94517225" "94517226" "del" "0" "01695" "ABCA4_000704" "g.94517225_94517226del" "" "{PMID:Ducroq 2002:12515255}" "" "2617 del CT" "" "Germline" "?" "" "0" "" "" "g.94051669_94051670del" "" "pathogenic" ""
"0000121603" "3" "90" "1" "94564549" "94564549" "subst" "0" "01695" "ABCA4_000198" "g.94564549T>C" "" "{PMID:Ducroq 2002:12515255}" "" "571-2A/G" "" "Germline" "?" "" "0" "" "" "g.94098993T>C" "" "pathogenic" ""
"0000121604" "0" "70" "1" "94473266" "94473266" "subst" "8.14677E-6" "01695" "ABCA4_000389" "g.94473266C>T" "ExAC 1, 120422, 0, 0.000008304" "{PMID:Ducroq 2002:12515255}" "" "GGC 5929 AGC" "" "Germline" "?" "" "0" "" "" "g.94007710C>T" "" "likely pathogenic" ""
"0000121605" "0" "50" "1" "94486896" "94486896" "subst" "3.65562E-5" "01695" "ABCA4_000085" "g.94486896G>A" "ExAC 1, 121394, 0, 0.000008238" "{PMID:Ducroq 2002:12515255}" "" "CGG 4918 TGG" "" "Germline" "" "" "0" "" "" "g.94021340G>A" "" "VUS" ""
"0000121606" "0" "50" "1" "94496053" "94496053" "subst" "0.00437371" "01695" "ABCA4_000556" "g.94496053G>A" "ExAC 500, 121376, 12, 0.004119" "{PMID:Baum 2003:12592048}" "" "T1428M" "" "Germline" "" "" "0" "" "" "g.94030497G>A" "" "VUS" ""
"0000121607" "0" "50" "1" "94496053" "94496053" "subst" "0.00437371" "01695" "ABCA4_000556" "g.94496053G>A" "ExAC 500, 121376, 12, 0.004119" "{PMID:Baum 2003:12592048}" "" "T1428M" "" "Germline" "" "" "0" "" "" "g.94030497G>A" "" "VUS" ""
"0000121608" "0" "50" "1" "94471026" "94471026" "subst" "1.21925E-5" "01695" "ABCA4_000791" "g.94471026G>A" "ExAC 2, 121394, 0, 0.00001648" "{PMID:Baum 2003:12592048}" "" "R2040X" "" "Germline" "" "" "0" "" "" "g.94005470G>A" "" "VUS" ""
"0000121609" "0" "50" "1" "94471026" "94471026" "subst" "1.21925E-5" "01695" "ABCA4_000791" "g.94471026G>A" "ExAC 2, 121394, 0, 0.00001648" "{PMID:Baum 2003:12592048}" "" "R2040X" "" "Germline" "" "" "0" "" "" "g.94005470G>A" "" "VUS" ""
"0000121610" "0" "50" "1" "94514390" "94515419" "del" "0" "01695" "ABCA4_000698" "g.94514390_94515419del" "" "{PMID:Yatsenko 2003:12754711}" "" "IVS17-905_IVS18+35de" "" "Germline" "" "" "0" "" "" "g.94048834_94049863del" "" "VUS" ""
"0000121611" "0" "50" "1" "94495994" "94495994" "subst" "0.00019493" "01695" "ABCA4_000548" "g.94495994C>T" "ExAC 30, 121320, 0, 0.0002473" "{PMID:Fishman 2003:12796258}" "" "Gly1448Arg" "" "Germline" "" "" "0" "" "" "g.94030438C>T" "" "VUS" ""
"0000121612" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Fishman 2003:12796258}" "" "Ala1038Val; Leuk541Pro" "" "Germline" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000121613" "1" "50" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Fishman 2003:12796258}" "" "Ala1038Val; Leuk541Pro" "" "Germline" "" "" "0" "" "" "g.94043413G>A" "" "VUS" ""
"0000121614" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "ExAC 173, 121304, 0, 0.001426" "{PMID:Fishman 2003:12796258}" "" "Ala1038Val" "" "Germline" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic" ""
"0000121615" "0" "30" "1" "94486960" "94486960" "subst" "8.13206E-6" "01695" "ABCA4_000487" "g.94486960C>T" "ExAC 2, 121152, 0, 0.00001651" "{PMID:Fishman 2003:12796258}" "" "Trp1618Stop" "" "Germline" "?" "" "0" "" "" "g.94021404C>T" "" "likely benign" ""
"0000121616" "0" "50" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "ExAC 42, 120772, 0, 0.0003478" "{PMID:Fishman 2003:12796258}" "" "Donor splice, fbp3\'g-a intron 40" "" "Germline" "" "" "0" "" "" "g.94010795C>T" "" "VUS" ""
"0000121617" "0" "70" "1" "94528272" "94528272" "subst" "4.06984E-6" "01695" "ABCA4_000999" "g.94528272C>A" "ExAC 1, 118554, 0, 0.000008435" "{PMID:Fishman 2003:12796258}" "" "Asp600Tyr" "" "Germline" "?" "" "0" "" "" "g.94062716C>A" "" "likely pathogenic" ""
"0000121618" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "ExAC 15, 121412, 0, 0.0001235" "{PMID:Fishman 2003:12796258}" "" "Leu541Pro" "" "Germline" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000121619" "0" "50" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "ExAC 42, 120772, 0, 0.0003478" "{PMID:Fishman 2003:12796258}" "" "Donor splice, fbp3\'g-a intron 40" "" "Germline" "" "" "0" "" "" "g.94010795C>T" "" "VUS" ""
"0000121620" "0" "90" "1" "94522239" "94522239" "subst" "2.03305E-5" "01695" "ABCA4_000736" "g.94522239A>T" "ExAC 1, 119332, 0, 0.00000838" "{PMID:Fishman 2003:12796258}" "" "Val767Asp" "" "Germline" "?" "" "0" "" "" "g.94056683A>T" "" "pathogenic" ""
"0000121621" "0" "70" "1" "94546151" "94546151" "subst" "4.06855E-6" "01695" "ABCA4_000347" "g.94546151C>A" "" "{PMID:Fishman 2003:12796258}" "" "Glu328Stop" "" "Germline" "" "" "0" "" "" "g.94080595C>A" "" "likely pathogenic" ""
"0000121622" "0" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "ExAC 173, 121304, 0, 0.001426" "{PMID:Fishman 2003:12796258}" "" "Ala1038Val" "" "Germline" "" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic" ""
"0000121623" "0" "70" "1" "94528780" "94528780" "subst" "4.06171E-6" "01695" "ABCA4_000299" "g.94528780C>T" "ExAC 1, 121410, 0, 0.000008237" "{PMID:Fishman 2003:12796258}" "" "Gly550Arg" "" "Germline" "" "" "0" "" "" "g.94063224C>T" "" "likely pathogenic" ""
"0000121624" "0" "50" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "ExAC 173, 121304, 0, 0.001426" "{PMID:Fishman 2003:12796258}" "" "Ala1038Val" "" "Germline" "" "" "0" "" "" "g.94043413G>A" "" "VUS" ""
"0000121625" "0" "50" "1" "94467548" "94467548" "subst" "0.00295661" "01695" "ABCA4_000788" "g.94467548C>G" "ExAC 334, 121350, 0, 0.002752" "{PMID:Fishman 2003:12796258}" "" "Val2050Leu" "" "Germline" "" "" "0" "" "" "g.94001992C>G" "" "VUS" ""
"0000121626" "0" "50" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "ExAC 42, 120772, 0, 0.0003478" "{PMID:Fishman 2003:12796258}" "" "Donor splice, fbp3\'g-a intron 40" "" "Germline" "" "" "0" "" "" "g.94010795C>T" "" "VUS" ""
"0000121627" "0" "50" "1" "94505604" "94505604" "subst" "0.00645586" "01695" "ABCA4_000092" "g.94505604A>C" "ExAC 879, 64452, 44, 0.01364" "{PMID:Fishman 2003:12796258}" "" "Leu1201Arg" "" "Germline" "" "" "0" "" "" "g.94040048A>C" "" "VUS" ""
"0000121628" "0" "50" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "ExAC 26, 121404, 0, 0.0002142" "{PMID:Fishman 2003:12796258}" "" "Leu2027Phe" "" "Germline" "" "" "0" "" "" "g.94005509G>A" "" "VUS" ""
"0000121629" "0" "50" "1" "94505604" "94505604" "subst" "0.00645586" "01695" "ABCA4_000092" "g.94505604A>C" "ExAC 879, 64452, 44, 0.01364" "{PMID:Fishman 2003:12796258}" "" "Leu1201Arg" "" "Germline" "" "" "0" "" "" "g.94040048A>C" "" "VUS" ""
"0000121630" "0" "50" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "ExAC 26, 121404, 0, 0.0002142" "{PMID:Fishman 2003:12796258}" "" "Leu2027Phe" "" "Germline" "" "" "0" "" "" "g.94005509G>A" "" "VUS" ""
"0000121631" "0" "90" "1" "94577135" "94577135" "subst" "2.43718E-5" "01695" "ABCA4_000240" "g.94577135C>T" "ExAC 2, 121210, 0, 0.0000165" "{PMID:Jaakson 2003:14517951}" "" "C54Y" "" "Germline" "" "" "0" "" "" "g.94111579C>T" "" "pathogenic" ""
"0000121632" "0" "90" "1" "94577135" "94577135" "subst" "2.43718E-5" "01695" "ABCA4_000240" "g.94577135C>T" "ExAC 2, 121210, 0, 0.0000165" "{PMID:Jaakson 2003:14517951}" "" "C54Y" "" "Germline" "" "" "0" "" "" "g.94111579C>T" "" "pathogenic" ""
"0000121633" "0" "90" "1" "94577135" "94577135" "subst" "2.43718E-5" "01695" "ABCA4_000240" "g.94577135C>T" "ExAC 2, 121210, 0, 0.0000165" "{PMID:Jaakson 2003:14517951}" "" "C54Y" "" "Germline" "" "" "0" "" "" "g.94111579C>T" "" "pathogenic" ""
"0000121634" "0" "50" "1" "94577102" "94577102" "subst" "4.06161E-6" "01695" "ABCA4_000033" "g.94577102C>T" "" "{PMID:Jaakson 2003:14517951}" "" "G65E" "" "Germline" "" "" "0" "" "" "g.94111546C>T" "" "VUS" ""
"0000121635" "0" "50" "1" "94574147" "94574147" "subst" "8.12236E-6" "01695" "ABCA4_000213" "g.94574147G>A" "" "{PMID:Jaakson 2003:14517951}" "" "P143L" "" "Germline" "" "" "0" "" "" "g.94108591G>A" "" "VUS" ""
"0000121636" "0" "50" "1" "94568686" "94568686" "subst" "0.00258122" "01695" "ABCA4_000212" "g.94568686C>T" "ExAC 290, 120866, 1, 0.002399" "{PMID:Jaakson 2003:14517951}" "" "R152Q" "" "Germline" "" "" "0" "" "" "g.94103130C>T" "" "VUS" ""
"0000121637" "0" "50" "1" "94568627" "94568627" "subst" "0.000422314" "01695" "ABCA4_000207" "g.94568627C>T" "ExAC 56, 121358, 0, 0.0004614" "{PMID:Jaakson 2003:14517951}" "" "G172S" "" "Germline" "" "" "0" "" "" "g.94103071C>T" "" "VUS" ""
"0000121638" "0" "50" "1" "94564483" "94564483" "subst" "0.0409724" "01695" "ABCA4_000009" "g.94564483C>T" "ExAC 4891, 120214, 119, 0.04069" "{PMID:Jaakson 2003:14517951}" "" "R212H" "" "Germline" "" "" "0" "" "" "g.94098927C>T" "" "VUS" ""
"0000121639" "0" "50" "1" "94564462" "94564462" "subst" "4.06775E-5" "01695" "ABCA4_000380" "g.94564462C>G" "ExAC 5, 120978, 0, 0.00004133" "{PMID:Jaakson 2003:14517951}" "" "R219T" "" "Germline" "" "" "0" "" "" "g.94098906C>G" "" "VUS" ""
"0000121640" "0" "50" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "ExAC 13, 121216, 0, 0.0001072" "{PMID:Jaakson 2003:14517951}" "" "Splice/V256V" "" "Germline" "" "" "0" "" "" "g.94098794C>A" "" "VUS" ""
"0000121641" "0" "50" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "ExAC 13, 121216, 0, 0.0001072" "{PMID:Jaakson 2003:14517951}" "" "Splice/V256V" "" "Germline" "" "" "0" "" "" "g.94098794C>A" "" "VUS" ""
"0000121642" "0" "50" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "ExAC 13, 121216, 0, 0.0001072" "{PMID:Jaakson 2003:14517951}" "" "Splice/V256V" "" "Germline" "" "" "0" "" "" "g.94098794C>A" "" "VUS" ""
"0000121643" "0" "70" "1" "94546126" "94546126" "subst" "2.03383E-5" "01695" "ABCA4_000343" "g.94546126G>C" "ExAC 5, 121366, 0, 0.0000412" "{PMID:Jaakson 2003:14517951}" "" "S336C" "" "Germline" "" "" "0" "" "" "g.94080570G>C" "" "likely pathogenic" ""
"0000121644" "0" "70" "1" "94546126" "94546126" "subst" "2.03383E-5" "01695" "ABCA4_000343" "g.94546126G>C" "ExAC 5, 121366, 0, 0.0000412" "{PMID:Jaakson 2003:14517951}" "" "S336C" "" "Germline" "" "" "0" "" "" "g.94080570G>C" "" "likely pathogenic" ""
"0000121645" "0" "50" "1" "94544234" "94544234" "subst" "0.255245" "01695" "ABCA4_000322" "g.94544234T>C" "ExAC 30988, 121400, 4255, 0.2553" "{PMID:Jaakson 2003:14517951}" "" "H423R" "" "Germline" "" "" "0" "" "" "g.94078678T>C" "" "VUS" ""
"0000121646" "0" "50" "1" "94544234" "94544234" "subst" "0.255245" "01695" "ABCA4_000322" "g.94544234T>C" "ExAC 30988, 121400, 4255, 0.2553" "{PMID:Jaakson 2003:14517951}" "" "H423R" "" "Germline" "" "" "0" "" "" "g.94078678T>C" "" "VUS" ""
"0000121647" "0" "50" "1" "94544234" "94544234" "subst" "0.255245" "01695" "ABCA4_000322" "g.94544234T>C" "ExAC 30988, 121400, 4255, 0.2553" "{PMID:Jaakson 2003:14517951}" "" "H423R" "" "Germline" "" "" "0" "" "" "g.94078678T>C" "" "VUS" ""
"0000121648" "0" "50" "1" "94544234" "94544234" "subst" "0.255245" "01695" "ABCA4_000322" "g.94544234T>C" "ExAC 30988, 121400, 4255, 0.2553" "{PMID:Jaakson 2003:14517951}" "" "H423R" "" "Germline" "" "" "0" "" "" "g.94078678T>C" "" "VUS" ""
"0000121649" "0" "50" "1" "94543389" "94543389" "subst" "0.000861235" "01695" "ABCA4_000312" "g.94543389C>T" "ExAC 114, 121404, 0, 0.000939" "{PMID:Jaakson 2003:14517951}" "" "E471K" "" "Germline" "" "" "0" "" "" "g.94077833C>T" "" "VUS" ""
"0000121650" "0" "50" "1" "94543389" "94543389" "subst" "0.000861235" "01695" "ABCA4_000312" "g.94543389C>T" "ExAC 114, 121404, 0, 0.000939" "{PMID:Jaakson 2003:14517951}" "" "E471K" "" "Germline" "" "" "0" "" "" "g.94077833C>T" "" "VUS" ""
"0000121651" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "ExAC 15, 121412, 0, 0.0001235" "{PMID:Jaakson 2003:14517951}" "" "L541P" "" "Germline" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000121652" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "ExAC 15, 121412, 0, 0.0001235" "{PMID:Jaakson 2003:14517951}" "" "L541P" "" "Germline" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000121653" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "ExAC 15, 121412, 0, 0.0001235" "{PMID:Jaakson 2003:14517951}" "" "L541P" "" "Germline" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000121654" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "ExAC 15, 121412, 0, 0.0001235" "{PMID:Jaakson 2003:14517951}" "" "L541P" "" "Germline" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000121655" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "ExAC 15, 121412, 0, 0.0001235" "{PMID:Jaakson 2003:14517951}" "" "L541P" "" "Germline" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000121656" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "ExAC 15, 121412, 0, 0.0001235" "{PMID:Jaakson 2003:14517951}" "" "L541P" "" "Germline" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000121657" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "ExAC 15, 121412, 0, 0.0001235" "{PMID:Jaakson 2003:14517951}" "" "L541P" "" "Germline" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000121658" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "ExAC 15, 121412, 0, 0.0001235" "{PMID:Jaakson 2003:14517951}" "" "L541P" "" "Germline" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000121659" "0" "50" "1" "94528137" "94528137" "subst" "2.03363E-5" "01695" "ABCA4_000774" "g.94528137C>T" "ExAC 1, 121050, 0, 0.000008261" "{PMID:Jaakson 2003:14517951}" "" "D645N" "" "Germline" "" "" "0" "" "" "g.94062581C>T" "" "VUS" ""
"0000121660" "0" "50" "1" "94526212" "94526212" "subst" "1.22012E-5" "01695" "ABCA4_000075" "g.94526212G>A" "ExAC 3, 120836, 0, 0.00002483" "{PMID:Jaakson 2003:14517951}" "" "R681X" "" "Germline" "" "" "0" "" "" "g.94060656G>A" "" "VUS" ""
"0000121661" "0" "50" "1" "94526212" "94526212" "subst" "1.22012E-5" "01695" "ABCA4_000075" "g.94526212G>A" "ExAC 3, 120836, 0, 0.00002483" "{PMID:Jaakson 2003:14517951}" "" "R681X" "" "Germline" "" "" "0" "" "" "g.94060656G>A" "" "VUS" ""
"0000121662" "0" "50" "1" "94526212" "94526212" "subst" "1.22012E-5" "01695" "ABCA4_000075" "g.94526212G>A" "ExAC 3, 120836, 0, 0.00002483" "{PMID:Jaakson 2003:14517951}" "" "R681X" "" "Germline" "" "" "0" "" "" "g.94060656G>A" "" "VUS" ""
"0000121663" "0" "50" "1" "94526212" "94526212" "subst" "1.22012E-5" "01695" "ABCA4_000075" "g.94526212G>A" "ExAC 3, 120836, 0, 0.00002483" "{PMID:Jaakson 2003:14517951}" "" "R681X" "" "Germline" "" "" "0" "" "" "g.94060656G>A" "" "VUS" ""
"0000121664" "0" "50" "1" "94526212" "94526212" "subst" "1.22012E-5" "01695" "ABCA4_000075" "g.94526212G>A" "ExAC 3, 120836, 0, 0.00002483" "{PMID:Jaakson 2003:14517951}" "" "R681X" "" "Germline" "" "" "0" "" "" "g.94060656G>A" "" "VUS" ""
"0000121665" "0" "50" "1" "94526163" "94526163" "subst" "0" "01695" "ABCA4_000753" "g.94526163C>T" "" "{PMID:Jaakson 2003:14517951}" "" "W697X" "" "Germline" "" "" "0" "" "" "g.94060607C>T" "" "VUS" ""
"0000121666" "0" "50" "1" "94520783" "94520783" "subst" "0" "01695" "ABCA4_000722" "g.94520783A>G" "" "{PMID:Jaakson 2003:14517951}" "" "I824T" "" "Germline" "" "" "0" "" "" "g.94055227A>G" "" "VUS" ""
"0000121667" "0" "50" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "ExAC 601, 118484, 2, 0.005072" "{PMID:Jaakson 2003:14517951}" "" "Splice/G863A" "" "Germline" "" "rs76157638" "0" "" "" "g.94051698C>G" "" "VUS" ""
"0000121668" "0" "50" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "ExAC 601, 118484, 2, 0.005072" "{PMID:Jaakson 2003:14517951}" "" "Splice/G863A" "" "Germline" "" "rs76157638" "0" "" "" "g.94051698C>G" "" "VUS" ""
"0000121669" "0" "50" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "ExAC 601, 118484, 2, 0.005072" "{PMID:Jaakson 2003:14517951}" "" "Splice/G863A" "" "Germline" "" "rs76157638" "0" "" "" "g.94051698C>G" "" "VUS" ""
"0000121670" "0" "50" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "ExAC 601, 118484, 2, 0.005072" "{PMID:Jaakson 2003:14517951}" "" "Splice/G863A" "" "Germline" "" "rs76157638" "0" "" "" "g.94051698C>G" "" "VUS" ""
"0000121671" "0" "50" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "ExAC 601, 118484, 2, 0.005072" "{PMID:Jaakson 2003:14517951}" "" "Splice/G863A" "" "Germline" "" "rs76157638" "0" "" "" "g.94051698C>G" "" "VUS" ""
"0000121672" "0" "50" "1" "94512565" "94512565" "subst" "0.030364" "01695" "ABCA4_000002" "g.94512565C>T" "ExAC 3722, 121196, 87, 0.03071" "{PMID:Jaakson 2003:14517951}" "" "R943Q" "" "Germline" "" "" "0" "" "" "g.94047009C>T" "" "VUS" ""
"0000121673" "0" "50" "1" "94510253" "94510253" "subst" "0.000247694" "01695" "ABCA4_000108" "g.94510253A>G" "ExAC 36, 121412, 0, 0.0002965" "{PMID:Jaakson 2003:14517951}" "" "V989A" "" "Germline" "" "" "0" "" "" "g.94044697A>G" "" "VUS" ""
"0000121674" "0" "50" "1" "94510248" "94510248" "subst" "0.000544123" "01695" "ABCA4_000107" "g.94510248C>G" "ExAC 87, 121410, 0, 0.0007166" "{PMID:Jaakson 2003:14517951}" "" "G991R" "" "Germline" "" "" "0" "" "" "g.94044692C>G" "" "VUS" ""
"0000121675" "0" "50" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "ExAC 24, 119274, 0, 0.0002012" "{PMID:Jaakson 2003:14517951}" "" "P1380L" "" "Germline" "" "" "0" "" "" "g.94031110G>A" "" "VUS" ""
"0000121676" "0" "50" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "ExAC 24, 119274, 0, 0.0002012" "{PMID:Jaakson 2003:14517951}" "" "P1380L" "" "Germline" "" "" "0" "" "" "g.94031110G>A" "" "VUS" ""
"0000121677" "0" "50" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "ExAC 24, 119274, 0, 0.0002012" "{PMID:Jaakson 2003:14517951}" "" "P1380L" "" "Germline" "" "" "0" "" "" "g.94031110G>A" "" "VUS" ""
"0000121678" "0" "50" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "ExAC 24, 119274, 0, 0.0002012" "{PMID:Jaakson 2003:14517951}" "" "P1380L" "" "Germline" "" "" "0" "" "" "g.94031110G>A" "" "VUS" ""
"0000121679" "0" "50" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "ExAC 24, 119274, 0, 0.0002012" "{PMID:Jaakson 2003:14517951}" "" "P1380L" "" "Germline" "" "" "0" "" "" "g.94031110G>A" "" "VUS" ""
"0000121680" "0" "50" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "ExAC 24, 119274, 0, 0.0002012" "{PMID:Jaakson 2003:14517951}" "" "P1380L" "" "Germline" "" "" "0" "" "" "g.94031110G>A" "" "VUS" ""
"0000121681" "0" "50" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "ExAC 24, 119274, 0, 0.0002012" "{PMID:Jaakson 2003:14517951}" "" "P1380L" "" "Germline" "" "" "0" "" "" "g.94031110G>A" "" "VUS" ""
"0000121682" "0" "50" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "ExAC 24, 119274, 0, 0.0002012" "{PMID:Jaakson 2003:14517951}" "" "P1380L" "" "Germline" "" "" "0" "" "" "g.94031110G>A" "" "VUS" ""
"0000121683" "0" "50" "1" "94496610" "94496610" "subst" "2.03128E-5" "01695" "ABCA4_000571" "g.94496610C>T" "ExAC 2, 120596, 0, 0.00001658" "{PMID:Jaakson 2003:14517951}" "" "E1399K" "" "Germline" "" "" "0" "" "" "g.94031054C>T" "" "VUS" ""
"0000121684" "0" "50" "1" "94496008" "94496008" "subst" "2.03056E-5" "01695" "ABCA4_000148" "g.94496008C>T" "ExAC 3, 121360, 0, 0.00002472" "{PMID:Jaakson 2003:14517951}" "" "R1443H" "" "Germline" "" "" "0" "" "" "g.94030452C>T" "" "VUS" ""
"0000121685" "0" "50" "1" "94495083" "94495083" "subst" "0.000124542" "01695" "ABCA4_000542" "g.94495083G>A" "ExAC 11, 77176, 0, 0.0001425" "{PMID:Jaakson 2003:14517951}" "" "P1486L" "" "Germline" "" "" "0" "" "" "g.94029527G>A" "" "VUS" ""
"0000121686" "0" "50" "1" "94495078" "94495078" "subst" "8.37044E-6" "01695" "ABCA4_000042" "g.94495078A>G" "ExAC 1, 70400, 0, 0.0000142" "{PMID:Jaakson 2003:14517951}" "" "C1488R" "" "Germline" "" "" "0" "" "" "g.94029522A>G" "" "VUS" ""
"0000121687" "0" "50" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "ExAC 12, 60116, 0, 0.0001996" "{PMID:Jaakson 2003:14517951}" "" "C1490Y" "" "Germline" "" "" "0" "" "" "g.94029515C>T" "" "VUS" ""
"0000121688" "0" "50" "1" "94486896" "94486896" "subst" "3.65562E-5" "01695" "ABCA4_000085" "g.94486896G>A" "ExAC 1, 121394, 0, 0.000008238" "{PMID:Jaakson 2003:14517951}" "" "R1640W" "" "Germline" "" "" "0" "" "" "g.94021340G>A" "" "VUS" ""
"0000121689" "0" "50" "1" "94486896" "94486896" "subst" "3.65562E-5" "01695" "ABCA4_000085" "g.94486896G>A" "ExAC 1, 121394, 0, 0.000008238" "{PMID:Jaakson 2003:14517951}" "" "R1640W" "" "Germline" "" "" "0" "" "" "g.94021340G>A" "" "VUS" ""
"0000121690" "0" "50" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "ExAC 42, 120772, 0, 0.0003478" "{PMID:Jaakson 2003:14517951}" "" "IVS40+5G>A Splice" "" "Germline" "" "" "0" "" "" "g.94010795C>T" "" "VUS" ""
"0000121691" "0" "50" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "ExAC 42, 120772, 0, 0.0003478" "{PMID:Jaakson 2003:14517951}" "" "IVS40+5G>A Splice" "" "Germline" "" "" "0" "" "" "g.94010795C>T" "" "VUS" ""
"0000121692" "0" "50" "1" "94476865" "94476865" "subst" "2.03107E-5" "01695" "ABCA4_000430" "g.94476865A>G" "ExAC 3, 121186, 0, 0.00002476" "{PMID:Jaakson 2003:14517951}" "" "I1846T" "" "Germline" "" "" "0" "" "" "g.94011309A>G" "" "VUS" ""
"0000121693" "0" "50" "1" "94476865" "94476865" "subst" "2.03107E-5" "01695" "ABCA4_000430" "g.94476865A>G" "ExAC 3, 121186, 0, 0.00002476" "{PMID:Jaakson 2003:14517951}" "" "I1846T" "" "Germline" "" "" "0" "" "" "g.94011309A>G" "" "VUS" ""
"0000121694" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "ExAC 613, 121302, 4, 0.005054" "{PMID:Jaakson 2003:14517951}" "" "G1961E" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000121695" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "ExAC 613, 121302, 4, 0.005054" "{PMID:Jaakson 2003:14517951}" "" "G1961E" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000121696" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "ExAC 613, 121302, 4, 0.005054" "{PMID:Jaakson 2003:14517951}" "" "G1961E" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000121697" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "ExAC 613, 121302, 4, 0.005054" "{PMID:Jaakson 2003:14517951}" "" "G1961E" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000121698" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "ExAC 613, 121302, 4, 0.005054" "{PMID:Jaakson 2003:14517951}" "" "G1961E" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000121699" "0" "50" "1" "94471055" "94471055" "subst" "0.00035346" "01695" "ABCA4_000029" "g.94471055C>T" "ExAC 47, 121404, 1, 0.0003871" "{PMID:Jaakson 2003:14517951}" "" "R2030Q" "" "Germline" "" "" "0" "" "" "g.94005499C>T" "" "VUS" ""
"0000121700" "0" "50" "1" "94471040" "94471040" "subst" "0" "01695" "ABCA4_000123" "g.94471040A>G" "" "{PMID:Jaakson 2003:14517951}" "" "L2035P" "" "Germline" "" "" "0" "" "" "g.94005484A>G" "" "VUS" ""
"0000121701" "0" "50" "1" "94466422" "94466422" "subst" "2.43651E-5" "01695" "ABCA4_000817" "g.94466422C>T" "ExAC 3, 121398, 0, 0.00002471" "{PMID:Jaakson 2003:14517951}" "" "C2150Y" "" "Germline" "" "" "0" "" "" "g.94000866C>T" "" "VUS" ""
"0000121702" "3" "70" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "ExAC 13, 121216, 0, 0.0001072" "{PMID:Klevering 2004:15019334}" "" "768G>T" "" "Germline" "?" "" "0" "" "" "g.94098794C>A" "" "likely pathogenic" ""
"0000121703" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "ExAC 13, 121216, 0, 0.0001072" "{PMID:Klevering 2004:15019334}" "" "768G>T" "" "Germline" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic" ""
"0000121704" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "ExAC 601, 118484, 2, 0.005072" "{PMID:Klevering 2004:15019334}" "" "2588G>C" "" "Germline" "?" "rs76157638" "0" "" "" "g.94051698C>G" "" "likely pathogenic" ""
"0000121705" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "ExAC 13, 121216, 0, 0.0001072" "{PMID:Klevering 2004:15019334}" "" "768G>T" "" "Germline" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic" ""
"0000121706" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "ExAC 601, 118484, 2, 0.005072" "{PMID:Klevering 2004:15019334}" "" "2588G>C" "" "Germline" "?" "rs76157638" "0" "" "" "g.94051698C>G" "" "likely pathogenic" ""
"0000121707" "3" "90" "1" "94487401" "94487401" "subst" "4.06085E-6" "01695" "ABCA4_000995" "g.94487401C>T" "" "{PMID:Klevering 2004:15019334}" "" "IVS33+1G>A" "" "Germline" "?" "" "0" "" "" "g.94021845C>T" "" "pathogenic" ""
"0000121708" "3" "70" "1" "94487401" "94487401" "subst" "4.06085E-6" "01695" "ABCA4_000995" "g.94487401C>T" "" "{PMID:Klevering 2004:15019334}" "" "IVS33+1G>A" "" "Germline" "?" "" "0" "" "" "g.94021845C>T" "" "likely pathogenic" ""
"0000121709" "20" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "ExAC 601, 118484, 2, 0.005072" "{PMID:Klevering 2004:15019334}" "" "2588G>C" "" "Germline" "?" "rs76157638" "0" "" "" "g.94051698C>G" "" "likely pathogenic" ""
"0000121710" "10" "90" "1" "94487401" "94487401" "subst" "4.06085E-6" "01695" "ABCA4_000995" "g.94487401C>T" "" "{PMID:Klevering 2004:15019334}" "" "IVS33+1G>A" "" "Germline" "" "" "0" "" "" "g.94021845C>T" "" "pathogenic" ""
"0000121711" "20" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "ExAC 601, 118484, 2, 0.005072" "{PMID:Klevering 2004:15019334}" "" "2588G>C" "" "Germline" "?" "rs76157638" "0" "" "" "g.94051698C>G" "" "likely pathogenic" ""
"0000121712" "10" "90" "1" "94487401" "94487401" "subst" "4.06085E-6" "01695" "ABCA4_000995" "g.94487401C>T" "" "{PMID:Klevering 2004:15019334}" "" "IVS33+1G>A" "" "Germline" "" "" "0" "" "" "g.94021845C>T" "" "pathogenic" ""
"0000121713" "0" "50" "1" "94564483" "94564483" "subst" "0.0409724" "01695" "ABCA4_000009" "g.94564483C>T" "ExAC 4891, 120214, 119, 0.04069" "{PMID:Klevering 2004:15019334}" "" "635G>A" "" "Germline" "" "" "0" "" "" "g.94098927C>T" "" "VUS" ""
"0000121714" "11" "30" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "ExAC 27, 121030, 0, 0.0002231" "{PMID:Klevering 2004:15019334}" "" "IVS38-10T>C" "" "Germline" "" "" "0" "" "" "g.94011395A>G" "" "likely benign" ""
"0000121715" "0" "70" "1" "94564483" "94564483" "subst" "0.0409724" "01695" "ABCA4_000009" "g.94564483C>T" "ExAC 4891, 120214, 119, 0.04069" "{PMID:Klevering 2004:15019334}" "" "635G>A" "" "Germline" "?" "" "0" "" "" "g.94098927C>T" "" "likely pathogenic" ""
"0000121716" "11" "30" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "ExAC 13, 121216, 0, 0.0001072" "{PMID:Klevering 2004:15019334}" "" "768G>T" "" "Germline" "?" "" "0" "" "" "g.94098794C>A" "" "likely benign" ""
"0000121717" "0" "70" "1" "94564483" "94564483" "subst" "0.0409724" "01695" "ABCA4_000009" "g.94564483C>T" "ExAC 4891, 120214, 119, 0.04069" "{PMID:Klevering 2004:15019334}" "" "635G>A" "" "Germline" "" "" "0" "" "" "g.94098927C>T" "" "likely pathogenic" ""
"0000121718" "0" "50" "1" "94510306" "94510306" "subst" "0" "01695" "ABCA4_000677" "g.94510306G>T" "" "{PMID:Özgül 2004:15108289}" "" "[c.973-6C>A]" "" "Germline" "" "" "0" "" "" "g.94044750G>T" "" "VUS" ""
"0000121719" "3" "50" "1" "94496548" "94496548" "subst" "2.43787E-5" "01695" "ABCA4_000088" "g.94496548G>A" "ExAC 2, 120802, 0, 0.00001656" "{PMID:Özgül 2004:15108289}" "" "[c.4253+4C>T]" "" "Germline" "yes" "" "0" "" "" "g.94030992G>A" "" "VUS" ""
"0000121720" "0" "50" "1" "94520768" "94520768" "subst" "0.00016668" "01695" "ABCA4_000721" "g.94520768G>A" "ExAC 16, 121382, 0, 0.0001318" "{PMID:Özgül 2004:15108289}" "" "[c.2486C>T]" "" "Germline" "" "" "0" "" "" "g.94055212G>A" "" "VUS" ""
"0000121721" "11" "30" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "ExAC 14, 120056, 0, 0.0001166" "{PMID:Özgül 2004:15108289}" "" "[c.634C>T]" "" "Germline" "" "" "0" "" "" "g.94098928G>A" "" "likely benign" ""
"0000121722" "21" "70" "1" "94564483" "94564483" "subst" "0.0409724" "01695" "ABCA4_000009" "g.94564483C>T" "ExAC 4891, 120214, 119, 0.04069" "{PMID:Özgül 2004:15108289}" "" "[c.635G>A]" "" "Germline" "yes" "" "0" "" "" "g.94098927C>T" "" "likely pathogenic" ""
"0000121723" "3" "50" "1" "94578529" "94578529" "subst" "0" "01695" "ABCA4_000245" "g.94578529A>C" "" "{PMID:Özgül 2004:15108289}" "" "[c.160T>G]" "" "Germline" "?" "" "0" "" "" "g.94112973A>C" "" "VUS" ""
"0000121724" "0" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "ExAC 12, 60116, 0, 0.0001996" "{PMID:September 2004:15161829}, {PMID:Roberts 2012:22328824}" "" "C1490Y" "" "Germline" "" "" "0" "" "" "g.94029515C>T" "" "likely pathogenic" ""
"0000121725" "0" "70" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "ExAC 6, 119038, 0, 0.0000504" "{PMID:September 2004:15161829}, {PMID:Roberts 2012:22328824}" "" "R602W" "" "Germline" "" "" "0" "" "" "g.94062710G>A" "" "likely pathogenic" ""
"0000121726" "0" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "ExAC 12, 60116, 0, 0.0001996" "{PMID:September 2004:15161829}, {PMID:Roberts 2012:22328824}" "" "C1490Y" "" "Germline" "" "" "0" "" "" "g.94029515C>T" "" "likely pathogenic" ""
"0000121727" "0" "70" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "ExAC 6, 119038, 0, 0.0000504" "{PMID:September 2004:15161829}, {PMID:Roberts 2012:22328824}" "" "R602W" "" "Germline" "" "" "0" "" "" "g.94062710G>A" "" "likely pathogenic" ""
"0000121728" "0" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "ExAC 12, 60116, 0, 0.0001996" "{PMID:September 2004:15161829}, {PMID:Roberts 2012:22328824}" "" "C1490Y" "" "Germline" "" "" "0" "" "" "g.94029515C>T" "" "likely pathogenic" ""
"0000121729" "0" "70" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "ExAC 6, 119038, 0, 0.0000504" "{PMID:September 2004:15161829}, {PMID:Roberts 2012:22328824}" "" "R602W" "" "Germline" "" "" "0" "" "" "g.94062710G>A" "" "likely pathogenic" ""
"0000121730" "0" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "ExAC 12, 60116, 0, 0.0001996" "{PMID:September 2004:15161829}, {PMID:Roberts 2012:22328824}" "" "C1490Y" "" "Germline" "" "" "0" "" "" "g.94029515C>T" "" "likely pathogenic" ""
"0000121731" "0" "70" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "ExAC 6, 119038, 0, 0.0000504" "{PMID:September 2004:15161829}, {PMID:Roberts 2012:22328824}" "" "R602W" "" "Germline" "" "" "0" "" "" "g.94062710G>A" "" "likely pathogenic" ""
"0000121732" "0" "90" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "ExAC 12, 60116, 0, 0.0001996" "{PMID:September 2004:15161829}, {PMID:Roberts 2012:22328824}" "" "C1490Y" "" "Germline" "" "" "0" "" "" "g.94029515C>T" "" "pathogenic" ""
"0000121733" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "ExAC 601, 118484, 2, 0.005072" "{PMID:September 2004:15161829}, {PMID:Roberts 2012:22328824}" "" "2588G>C" "" "Germline" "" "rs76157638" "0" "" "" "g.94051698C>G" "" "likely pathogenic" ""
"0000121734" "0" "90" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "ExAC 12, 60116, 0, 0.0001996" "{PMID:September 2004:15161829}, {PMID:Roberts 2012:22328824}" "" "C1490Y" "" "Germline" "" "" "0" "" "" "g.94029515C>T" "" "pathogenic" ""
"0000121735" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "ExAC 601, 118484, 2, 0.005072" "{PMID:September 2004:15161829}, {PMID:Roberts 2012:22328824}" "" "2588G>C" "" "Germline" "" "rs76157638" "0" "" "" "g.94051698C>G" "" "likely pathogenic" ""
"0000121736" "0" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "ExAC 12, 60116, 0, 0.0001996" "{PMID:September 2004:15161829}, {PMID:Roberts 2012:22328824}" "" "C1490Y" "" "Germline" "" "" "0" "" "" "g.94029515C>T" "" "likely pathogenic" ""
"0000121737" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "ExAC 26, 121404, 0, 0.0002142" "{PMID:September 2004:15161829}, {PMID:Roberts 2012:22328824}" "" "L2027F" "" "Germline" "" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic" ""
"0000121738" "0" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "ExAC 12, 60116, 0, 0.0001996" "{PMID:September 2004:15161829}, {PMID:Roberts 2012:22328824}" "" "C1490Y" "" "Germline" "" "" "0" "" "" "g.94029515C>T" "" "likely pathogenic" ""
"0000121739" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "ExAC 26, 121404, 0, 0.0002142" "{PMID:September 2004:15161829}, {PMID:Roberts 2012:22328824}" "" "L2027F" "" "Germline" "" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic" ""
"0000121740" "0" "90" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "ExAC 12, 60116, 0, 0.0001996" "{PMID:September 2004:15161829}, {PMID:Roberts 2012:22328824}" "" "C1490Y" "" "Germline" "" "" "0" "" "" "g.94029515C>T" "" "pathogenic" ""
"0000121741" "0" "70" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "ExAC 13, 121216, 0, 0.0001072" "{PMID:September 2004:15161829}, {PMID:Roberts 2012:22328824}" "" "V256splice" "" "Germline" "" "" "0" "" "" "g.94098794C>A" "" "likely pathogenic" ""
"0000121742" "0" "70" "1" "94568687" "94568687" "subst" "1.62641E-5" "01695" "ABCA4_000024" "g.94568687G>A" "ExAC 1, 120844, 0, 0.000008275" "{PMID:September 2004:15161829}, {PMID:Roberts 2012:22328824}" "" "R152X" "" "Germline" "yes" "" "0" "" "" "g.94103131G>A" "" "likely pathogenic" ""
"0000121743" "0" "90" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "ExAC 12, 60116, 0, 0.0001996" "{PMID:September 2004:15161829}, {PMID:Roberts 2012:22328824}" "" "C1490Y" "" "Germline" "" "" "0" "" "" "g.94029515C>T" "" "pathogenic" ""
"0000121744" "0" "70" "1" "94568687" "94568687" "subst" "1.62641E-5" "01695" "ABCA4_000024" "g.94568687G>A" "ExAC 1, 120844, 0, 0.000008275" "{PMID:September 2004:15161829}, {PMID:Roberts 2012:22328824}" "" "R152X" "" "Germline" "yes" "" "0" "" "" "g.94103131G>A" "" "likely pathogenic" ""
"0000121745" "0" "90" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "ExAC 12, 60116, 0, 0.0001996" "{PMID:September 2004:15161829}, {PMID:Roberts 2012:22328824}" "" "C1490Y" "" "Germline" "" "" "0" "" "" "g.94029515C>T" "" "pathogenic" ""
"0000121746" "0" "50" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "ExAC 12, 60116, 0, 0.0001996" "{PMID:September 2004:15161829}, {PMID:Roberts 2012:22328824}" "" "C1490Y" "" "Germline" "" "" "0" "" "" "g.94029515C>T" "" "VUS" ""
"0000121747" "0" "50" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "ExAC 12, 60116, 0, 0.0001996" "{PMID:September 2004:15161829}, {PMID:Roberts 2012:22328824}" "" "C1490Y" "" "Germline" "" "" "0" "" "" "g.94029515C>T" "" "VUS" ""
"0000121748" "0" "50" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "ExAC 12, 60116, 0, 0.0001996" "{PMID:September 2004:15161829}, {PMID:Roberts 2012:22328824}" "" "C1490Y" "" "Germline" "" "" "0" "" "" "g.94029515C>T" "" "VUS" ""
"0000121749" "0" "50" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "ExAC 12, 60116, 0, 0.0001996" "{PMID:September 2004:15161829}, {PMID:Roberts 2012:22328824}" "" "C1490Y" "" "Germline" "" "" "0" "" "" "g.94029515C>T" "" "VUS" ""
"0000121750" "0" "50" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "ExAC 12, 60116, 0, 0.0001996" "{PMID:September 2004:15161829}, {PMID:Roberts 2012:22328824}" "" "C1490Y" "" "Germline" "" "" "0" "" "" "g.94029515C>T" "" "VUS" ""
"0000121751" "0" "50" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "ExAC 12, 60116, 0, 0.0001996" "{PMID:September 2004:15161829}, {PMID:Roberts 2012:22328824}" "" "C1490Y" "" "Germline" "" "" "0" "" "" "g.94029515C>T" "" "VUS" ""
"0000121752" "0" "50" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "ExAC 12, 60116, 0, 0.0001996" "{PMID:September 2004:15161829}, {PMID:Roberts 2012:22328824}" "" "C1490Y" "" "Germline" "" "" "0" "" "" "g.94029515C>T" "" "VUS" ""
"0000121753" "0" "50" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "ExAC 12, 60116, 0, 0.0001996" "{PMID:September 2004:15161829}, {PMID:Roberts 2012:22328824}" "" "C1490Y" "" "Germline" "" "" "0" "" "" "g.94029515C>T" "" "VUS" ""
"0000121754" "0" "50" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "ExAC 12, 60116, 0, 0.0001996" "{PMID:September 2004:15161829}, {PMID:Roberts 2012:22328824}" "" "C1490Y" "" "Germline" "" "" "0" "" "" "g.94029515C>T" "" "VUS" ""
"0000121755" "0" "50" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "ExAC 12, 60116, 0, 0.0001996" "{PMID:September 2004:15161829}, {PMID:Roberts 2012:22328824}" "" "C1490Y" "" "Germline" "" "" "0" "" "" "g.94029515C>T" "" "VUS" ""
"0000121756" "0" "50" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "ExAC 12, 60116, 0, 0.0001996" "{PMID:September 2004:15161829}, {PMID:Roberts 2012:22328824}" "" "C1490Y" "" "Germline" "" "" "0" "" "" "g.94029515C>T" "" "VUS" ""
"0000121757" "0" "50" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "ExAC 12, 60116, 0, 0.0001996" "{PMID:September 2004:15161829}, {PMID:Roberts 2012:22328824}" "" "C1490Y" "" "Germline" "" "" "0" "" "" "g.94029515C>T" "" "VUS" ""
"0000121758" "0" "50" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "ExAC 12, 60116, 0, 0.0001996" "{PMID:September 2004:15161829}, {PMID:Roberts 2012:22328824}" "" "C1490Y" "" "Germline" "" "" "0" "" "" "g.94029515C>T" "" "VUS" ""
"0000121759" "0" "90" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "ExAC 26, 121404, 0, 0.0002142" "{PMID:September 2004:15161829}, {PMID:Roberts 2012:22328824}" "" "L2027F" "" "Germline" "" "" "0" "" "" "g.94005509G>A" "" "pathogenic" ""
"0000121760" "0" "70" "1" "94466592" "94466592" "del" "0" "01695" "ABCA4_000835" "g.94466592del" "" "{PMID:September 2004:15161829}, {PMID:Roberts 2012:22328824}" "" "6352A†" "" "Germline" "" "" "0" "" "" "g.94001036del" "" "likely pathogenic" ""
"0000121761" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "ExAC 26, 121404, 0, 0.0002142" "{PMID:September 2004:15161829}, {PMID:Roberts 2012:22328824}" "" "L2027F" "" "Germline" "" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic" ""
"0000121762" "0" "70" "1" "94471032" "94471032" "subst" "1.62553E-5" "01695" "ABCA4_000792" "g.94471032G>A" "ExAC 3, 121400, 0, 0.00002471" "{PMID:September 2004:15161829}, {PMID:Roberts 2012:22328824}" "" "R2038W" "" "Germline" "" "" "0" "" "" "g.94005476G>A" "" "likely pathogenic" ""
"0000121763" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "ExAC 26, 121404, 0, 0.0002142" "{PMID:September 2004:15161829}, {PMID:Roberts 2012:22328824}" "" "L2027F" "" "Germline" "" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic" ""
"0000121764" "0" "70" "1" "94471032" "94471032" "subst" "1.62553E-5" "01695" "ABCA4_000792" "g.94471032G>A" "ExAC 3, 121400, 0, 0.00002471" "{PMID:September 2004:15161829}, {PMID:Roberts 2012:22328824}" "" "R2038W" "" "Germline" "" "" "0" "" "" "g.94005476G>A" "" "likely pathogenic" ""
"0000121765" "0" "70" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "ExAC 14, 120056, 0, 0.0001166" "{PMID:September 2004:15161829}, {PMID:Roberts 2012:22328824}" "" "R212C" "" "Germline" "" "" "0" "" "" "g.94098928G>A" "" "likely pathogenic" ""
"0000121766" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "ExAC 26, 121404, 0, 0.0002142" "{PMID:September 2004:15161829}, {PMID:Roberts 2012:22328824}" "" "L2027F" "" "Germline" "" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic" ""
"0000121767" "0" "50" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "ExAC 26, 121404, 0, 0.0002142" "{PMID:September 2004:15161829}, {PMID:Roberts 2012:22328824}" "" "L2027F" "" "Germline" "" "" "0" "" "" "g.94005509G>A" "" "VUS" ""
"0000121768" "0" "50" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "ExAC 26, 121404, 0, 0.0002142" "{PMID:September 2004:15161829}, {PMID:Roberts 2012:22328824}" "" "L2027F" "" "Germline" "" "" "0" "" "" "g.94005509G>A" "" "VUS" ""
"0000121769" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "ExAC 6, 119038, 0, 0.0000504" "{PMID:September 2004:15161829}, {PMID:Roberts 2012:22328824}" "" "R602W" "" "Germline" "" "" "0" "" "" "g.94062710G>A" "" "pathogenic" ""
"0000121770" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "ExAC 6, 119038, 0, 0.0000504" "{PMID:September 2004:15161829}, {PMID:Roberts 2012:22328824}" "" "R602W" "" "Germline" "" "" "0" "" "" "g.94062710G>A" "" "pathogenic" ""
"0000121771" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "ExAC 6, 119038, 0, 0.0000504" "{PMID:September 2004:15161829}, {PMID:Roberts 2012:22328824}" "" "R602W" "" "Germline" "" "" "0" "" "" "g.94062710G>A" "" "pathogenic" ""
"0000121772" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "ExAC 6, 119038, 0, 0.0000504" "{PMID:September 2004:15161829}, {PMID:Roberts 2012:22328824}" "" "R602W" "" "Germline" "" "" "0" "" "" "g.94062710G>A" "" "pathogenic" ""
"0000121773" "0" "90" "1" "94568687" "94568687" "subst" "1.62641E-5" "01695" "ABCA4_000024" "g.94568687G>A" "ExAC 1, 120844, 0, 0.000008275" "{PMID:September 2004:15161829}, {PMID:Roberts 2012:22328824}" "" "R152X" "" "Germline" "" "" "0" "" "" "g.94103131G>A" "" "pathogenic" ""
"0000121774" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "ExAC 13, 121216, 0, 0.0001072" "{PMID:September 2004:15161829}, {PMID:Roberts 2012:22328824}" "" "V256splice" "" "Germline" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic" ""
"0000121775" "0" "90" "1" "94568687" "94568687" "subst" "1.62641E-5" "01695" "ABCA4_000024" "g.94568687G>A" "ExAC 1, 120844, 0, 0.000008275" "{PMID:September 2004:15161829}, {PMID:Roberts 2012:22328824}" "" "R152X" "" "Germline" "" "" "0" "" "" "g.94103131G>A" "" "pathogenic" ""
"0000121776" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "ExAC 13, 121216, 0, 0.0001072" "{PMID:September 2004:15161829}, {PMID:Roberts 2012:22328824}" "" "V256splice" "" "Germline" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic" ""
"0000121777" "0" "50" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "ExAC 13, 121216, 0, 0.0001072" "{PMID:September 2004:15161829}, {PMID:Roberts 2012:22328824}" "" "V256splice" "" "Germline" "" "" "0" "" "" "g.94098794C>A" "" "VUS" ""
"0000121778" "0" "50" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "ExAC 13, 121216, 0, 0.0001072" "{PMID:September 2004:15161829}, {PMID:Roberts 2012:22328824}" "" "V256splice" "" "Germline" "" "" "0" "" "" "g.94098794C>A" "" "VUS" ""
"0000121779" "0" "50" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "ExAC 601, 118484, 2, 0.005072" "{PMID:September 2004:15161829}, {PMID:Roberts 2012:22328824}" "" "2588G>C" "" "Germline" "" "rs76157638" "0" "" "" "g.94051698C>G" "" "VUS" ""
"0000121780" "0" "90" "1" "94568687" "94568687" "subst" "1.62641E-5" "01695" "ABCA4_000024" "g.94568687G>A" "ExAC 1, 120844, 0, 0.000008275" "{PMID:September 2004:15161829}, {PMID:Roberts 2012:22328824}" "" "R152X" "" "Germline" "" "" "0" "" "" "g.94103131G>A" "" "pathogenic" ""
"0000121781" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "ExAC 601, 118484, 2, 0.005072" "{PMID:September 2004:15161829}, {PMID:Roberts 2012:22328824}" "" "2588G>C" "" "Germline" "" "rs76157638" "0" "" "" "g.94051698C>G" "" "pathogenic" ""
"0000121782" "0" "70" "1" "94568686" "94568686" "subst" "0.00258122" "01695" "ABCA4_000212" "g.94568686C>T" "ExAC 290, 120866, 1, 0.002399" "{PMID:September 2004:15161829}, {PMID:Roberts 2012:22328824}" "" "R152Q" "" "Germline" "" "" "0" "" "" "g.94103130C>T" "" "likely pathogenic" ""
"0000121783" "0" "30" "1" "94510253" "94510253" "subst" "0.000247694" "01695" "ABCA4_000108" "g.94510253A>G" "ExAC 36, 121412, 0, 0.0002965" "{PMID:September 2004:15161829}, {PMID:Roberts 2012:22328824}" "" "V989A" "" "Germline" "" "" "0" "" "" "g.94044697A>G" "" "likely benign" ""
"0000121784" "0" "90" "1" "94496008" "94496008" "subst" "2.03056E-5" "01695" "ABCA4_000148" "g.94496008C>T" "ExAC 3, 121360, 0, 0.00002472" "{PMID:September 2004:15161829}, {PMID:Roberts 2012:22328824}" "" "R1443H†" "" "Germline" "" "" "0" "" "" "g.94030452C>T" "" "pathogenic" ""
"0000121785" "0" "70" "1" "94471056" "94471056" "subst" "2.84398E-5" "01695" "ABCA4_000050" "g.94471056G>A" "ExAC 3, 121402, 0, 0.00002471" "{PMID:September 2004:15161829}, {PMID:Roberts 2012:22328824}" "" "R2030X" "" "Germline" "" "" "0" "" "" "g.94005500G>A" "" "likely pathogenic" ""
"0000121786" "0" "70" "1" "94467413" "94467413" "subst" "8.12612E-6" "01695" "ABCA4_000131" "g.94467413C>G" "ExAC 1, 120956, 0, 0.000008267" "{PMID:September 2004:15161829}, {PMID:Roberts 2012:22328824}" "" "IVS45+7G>A" "" "Germline" "" "" "0" "" "" "g.94001857C>G" "" "likely pathogenic" ""
"0000121787" "0" "90" "1" "94496017" "94496017" "subst" "4.06075E-6" "01695" "ABCA4_000130" "g.94496017A>G" "" "{PMID:September 2004:15161829}, {PMID:Roberts 2012:22328824}" "" "F1440S" "" "Germline" "" "" "0" "" "" "g.94030461A>G" "" "pathogenic" ""
"0000121788" "0" "50" "1" "94485257" "94485257" "subst" "0.00017945" "01695" "ABCA4_000100" "g.94485257C>T" "ExAC 26, 109132, 0, 0.0002382" "{PMID:September 2004:15161829}, {PMID:Roberts 2012:22328824}" "" "V1693I" "On its own not significantely found more often in published STGD compared to ExAC (p-value 0.86). However, together with other non-significant variants published related to STGD, they are significantly more often in STGD patients (p-value <0.01)." "Germline" "" "" "0" "" "" "g.94019701C>T" "" "VUS" ""
"0000121789" "0" "90" "1" "94461724" "94461724" "subst" "0" "01695" "ABCA4_000847" "g.94461724T>C" "" "{PMID:Stenirri 2004:15192030}" "" "T2253A (6757A>C)" "" "Germline" "" "" "0" "" "" "g.93996168T>C" "" "pathogenic" ""
"0000121790" "0" "70" "1" "94461753" "94461761" "del" "0" "01695" "ABCA4_000850" "g.94461753_94461761del" "" "{PMID:Stenirri 2004:15192030}" "" "6730-10del9" "" "Germline" "" "" "0" "" "" "g.93996197_93996205del" "" "likely pathogenic" ""
"0000121791" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "ExAC 42, 120772, 0, 0.0003478" "{PMID:Stenirri 2004:15192030}" "" "5714+5G>A" "" "Germline" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic" ""
"0000121792" "0" "50" "1" "94526184" "94526184" "subst" "0" "01695" "ABCA4_000755" "g.94526184C>A" "" "{PMID:Stenirri 2004:15192030}" "" "G690V(2069G>T)" "" "Germline" "" "" "0" "" "" "g.94060628C>A" "" "VUS" ""
"0000121793" "0" "50" "1" "94526296" "94526296" "subst" "1.64555E-5" "01695" "ABCA4_000768" "g.94526296G>A" "ExAC 1, 96614, 0, 0.00001035" "{PMID:Stenirri 2004:15192030}" "" "R653C(1957C>T)" "" "Germline" "" "" "0" "" "" "g.94060740G>A" "" "VUS" ""
"0000121794" "0" "50" "1" "94486858" "94486858" "subst" "0" "01695" "ABCA4_000482" "g.94486858A>C" "" "{PMID:Stenirri 2004:15192030}" "" "Y1652X(4956T>G)" "" "Germline" "" "" "0" "" "" "g.94021302A>C" "" "VUS" ""
"0000121795" "0" "90" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "ExAC 42, 120772, 0, 0.0003478" "{PMID:Stenirri 2004:15192030}" "" "5714+5G>A" "" "Germline" "" "" "0" "" "" "g.94010795C>T" "" "pathogenic" ""
"0000121796" "0" "50" "1" "94461733" "94461733" "del" "0" "01695" "ABCA4_000135" "g.94461733del" "" "{PMID:Stenirri 2004:15192030}" "" "6748delA" "" "Germline" "" "" "0" "" "" "g.93996177del" "" "VUS" ""
"0000121797" "0" "50" "1" "94577046" "94577049" "dup" "0" "01695" "ABCA4_000227" "g.94577046_94577049dup" "" "{PMID:Stenirri 2004:15192030}" "" "250>251insCAAA" "" "Germline" "" "" "0" "" "" "g.94111490_94111493dup" "" "VUS" ""
"0000121798" "0" "50" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "ExAC 24, 119274, 0, 0.0002012" "{PMID:Stenirri 2004:15192030}" "" "P1380L(4139C>T)" "" "Germline" "" "" "0" "" "" "g.94031110G>A" "" "VUS" ""
"0000121799" "0" "50" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "ExAC 42, 120772, 0, 0.0003478" "{PMID:Stenirri 2004:15192030}" "" "5714+5G>A" "" "Germline" "" "" "0" "" "" "g.94010795C>T" "" "VUS" ""
"0000121800" "0" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "ExAC 12, 60116, 0, 0.0001996" "{PMID:Stenirri 2004:15192030}" "" "C1490Y (4469C>A)" "" "Germline" "" "" "0" "" "" "g.94029515C>T" "" "likely pathogenic" ""
"0000121801" "0" "70" "1" "94586550" "94586550" "subst" "1.21864E-5" "01695" "ABCA4_000037" "g.94586550G>A" "ExAC 3, 121392, 0, 0.00002471" "{PMID:Stenirri 2004:15192030}" "" "R18W(52C>T)" "" "Germline" "" "" "0" "" "" "g.94120994G>A" "" "likely pathogenic" ""
"0000121802" "0" "70" "1" "94497495" "94497495" "del" "0" "01695" "ABCA4_000584" "g.94497495del" "" "{PMID:Stenirri 2004:15192030}" "" "3970delG" "" "Germline" "" "" "0" "" "" "g.94031939del" "" "likely pathogenic" ""
"0000121803" "0" "90" "1" "94543306" "94543306" "subst" "0" "01695" "ABCA4_000311" "g.94543306G>T" "" "{PMID:Stenirri 2004:15192030}" "" "D498E(1494C>A)" "" "Germline" "" "" "0" "" "" "g.94077750G>T" "" "pathogenic" ""
"0000121804" "0" "70" "1" "94526154" "94526154" "subst" "4.06441E-6" "01695" "ABCA4_000752" "g.94526154C>T" "" "{PMID:Stenirri 2004:15192030}" "" "W700X(2099G>A)" "" "Germline" "" "" "0" "" "" "g.94060598C>T" "" "likely pathogenic" ""
"0000121805" "0" "90" "1" "94463586" "94463586" "subst" "0" "01695" "ABCA4_000807" "g.94463586T>G" "" "{PMID:Stenirri 2004:15192030}" "" "Q2187P(6560A>G)" "" "Germline" "" "" "0" "" "" "g.93998030T>G" "" "pathogenic" ""
"0000121806" "0" "70" "1" "94508322" "94508322" "subst" "1.62513E-5" "01695" "ABCA4_000128" "g.94508322C>T" "ExAC 2, 121288, 0, 0.00001649" "{PMID:Stenirri 2004:15192030}" "" "R1108H(3323G>A)" "" "Germline" "" "" "0" "" "" "g.94042766C>T" "" "likely pathogenic" ""
"0000121807" "0" "70" "1" "94481322" "94481322" "subst" "0" "01695" "ABCA4_000129" "g.94481322G>T" "" "{PMID:Stenirri 2004:15192030}" "" "A1762D(5285C>A)" "" "Germline" "" "" "0" "" "" "g.94015766G>T" "" "likely pathogenic" ""
"0000121808" "0" "70" "1" "94488941" "94488941" "subst" "4.09836E-6" "01695" "ABCA4_000127" "g.94488941C>T" "ExAC 1, 99920, 0, 0.00001001" "{PMID:Stenirri 2004:15192030}" "" "4667+1G>A" "" "Germline" "" "" "0" "" "" "g.94023385C>T" "" "likely pathogenic" ""
"0000121809" "0" "90" "1" "94476890" "94476890" "subst" "4.06227E-6" "01695" "ABCA4_000126" "g.94476890G>T" "" "{PMID:Stenirri 2004:15192030}" "" "H1838N(5512C>A)" "" "Germline" "" "" "0" "" "" "g.94011334G>T" "" "pathogenic" ""
"0000121810" "0" "50" "1" "94526296" "94526296" "subst" "1.64555E-5" "01695" "ABCA4_000768" "g.94526296G>A" "ExAC 1, 96614, 0, 0.00001035" "{PMID:Stenirri 2004:15192030}" "" "R653C(1957C>T)" "" "Germline" "" "" "0" "" "" "g.94060740G>A" "" "VUS" ""
"0000121811" "0" "90" "1" "94508433" "94508433" "subst" "8.12209E-6" "01695" "ABCA4_000151" "g.94508433G>A" "ExAC 2, 121366, 0, 0.00001648" "{PMID:Stenirri 2004:15192030}, {PMID:Rossi 2012:23341817}" "" "S1071L(3212C>T)" "" "Germline" "" "" "0" "" "" "g.94042877G>A" "" "pathogenic" ""
"0000121812" "0" "70" "1" "94505599" "94505599" "subst" "0" "01695" "ABCA4_000152" "g.94505599C>T" "" "{PMID:Stenirri 2004:15192030}, {PMID:Rossi 2012:23341817}" "" "G1203R (3607G>A)" "" "Germline" "" "" "0" "" "" "g.94040043C>T" "" "likely pathogenic" ""
"0000121813" "0" "70" "1" "94528780" "94528780" "subst" "4.06171E-6" "01695" "ABCA4_000299" "g.94528780C>T" "ExAC 1, 121410, 0, 0.000008237" "{PMID:Stenirri 2004:15192030}" "" "G550R(1648G>A)" "" "Germline" "" "" "0" "" "" "g.94063224C>T" "" "likely pathogenic" ""
"0000121814" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "ExAC 613, 121302, 4, 0.005054" "{PMID:Stenirri 2004:15192030}" "" "G1961E(5882G>A)" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000121815" "0" "70" "1" "94564382" "94564382" "subst" "0" "01695" "ABCA4_000370" "g.94564382C>T" "" "{PMID:Stenirri 2004:15192030}" "" "A246T(736G>A)" "" "Germline" "" "" "0" "" "" "g.94098826C>T" "" "likely pathogenic" ""
"0000121816" "0" "50" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "ExAC 13, 121216, 0, 0.0001072" "{PMID:Simonelli 2005:15942264}" "" "768G→T" "" "Germline" "" "" "0" "" "" "g.94098794C>A" "" "VUS" ""
"0000121817" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "ExAC 13, 121216, 0, 0.0001072" "{PMID:Simonelli 2005:15942264}" "" "768G→T" "" "Germline" "?" "" "0" "" "" "g.94098794C>A" "" "pathogenic" ""
"0000121818" "0" "50" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Simonelli 2005:15942264}" "" "G683A/ΔG863;R943Q" "" "Germline" "-" "rs76157638" "0" "" "" "g.94051698C>G" "" "VUS" ""
"0000121819" "0" "90" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "ExAC 42, 120772, 0, 0.0003478" "{PMID:Simonelli 2005:15942264}" "" "IVS40+5G→A" "" "Germline" "?" "" "0" "" "" "g.94010795C>T" "" "pathogenic" ""
"0000121820" "0" "50" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Simonelli 2005:15942264}" "" "G683A/ΔG863;R943Q" "" "Germline" "-" "rs76157638" "0" "" "" "g.94051698C>G" "" "VUS" ""
"0000121821" "0" "50" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "ExAC 13, 121216, 0, 0.0001072" "{PMID:Simonelli 2005:15942264}" "" "768G→T" "" "Germline" "-" "" "0" "" "" "g.94098794C>A" "" "VUS" ""
"0000121822" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "ExAC 13, 121216, 0, 0.0001072" "{PMID:Simonelli 2005:15942264}" "" "768G→T" "" "Germline" "?" "" "0" "" "" "g.94098794C>A" "" "pathogenic" ""
"0000121823" "0" "50" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Simonelli 2005:15942264}" "" "G683A/ΔG863;R943Q" "" "Germline" "-" "rs76157638" "0" "" "" "g.94051698C>G" "" "VUS" ""
"0000121824" "3" "50" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "ExAC 13, 121216, 0, 0.0001072" "{PMID:Simonelli 2005:15942264}" "" "768G→T" "" "Germline" "?" "" "0" "" "" "g.94098794C>A" "" "VUS" ""
"0000121825" "3" "90" "1" "94486794" "94486794" "subst" "0" "01695" "ABCA4_000478" "g.94486794A>G" "" "{PMID:Simonelli 2005:15942264}" "" "5018+2tC" "" "Germline" "?" "" "0" "" "" "g.94021238A>G" "" "pathogenic" ""
"0000121826" "0" "70" "1" "94471056" "94471056" "subst" "2.84398E-5" "01695" "ABCA4_000050" "g.94471056G>A" "ExAC 3, 121402, 0, 0.00002471" "{PMID:Simonelli 2005:15942264}, {PMID:Testa 2012:22661472}" "" "R2030X" "" "Germline" "?" "" "0" "" "" "g.94005500G>A" "" "likely pathogenic" ""
"0000121827" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "ExAC 613, 121302, 4, 0.005054" "{PMID:Simonelli 2005:15942264}, {PMID:Testa 2012:22661472}" "" "G1961E" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "pathogenic" ""
"0000121828" "3" "90" "1" "94473278" "94473278" "del" "3.25908E-5" "01695" "ABCA4_000392" "g.94473278del" "" "{PMID:Simonelli 2005:15942264}" "" "delG5917" "" "Germline" "?" "" "0" "" "" "g.94007722del" "" "pathogenic" ""
"0000121829" "3" "90" "1" "94473278" "94473278" "del" "3.25908E-5" "01695" "ABCA4_000392" "g.94473278del" "" "{PMID:Simonelli 2005:15942264}" "" "delG5917" "" "Germline" "?" "" "0" "" "" "g.94007722del" "" "pathogenic" ""
"0000121830" "3" "90" "1" "94473278" "94473278" "del" "3.25908E-5" "01695" "ABCA4_000392" "g.94473278del" "" "{PMID:Simonelli 2005:15942264}" "" "delG5917" "" "Germline" "?" "" "0" "" "" "g.94007722del" "" "pathogenic" ""
"0000121831" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "ExAC 42, 120772, 0, 0.0003478" "{PMID:Simonelli 2005:15942264}, {PMID:Testa 2012:22661472}" "" "IVS40+5gA" "" "Germline" "?" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic" ""
"0000121832" "0" "50" "1" "94577010" "94577010" "subst" "4.06679E-6" "01695" "ABCA4_000225" "g.94577010T>G" "" "{PMID:Simonelli 2005:15942264}, {PMID:Testa 2012:22661472}" "" "N96H" "" "Germline" "-" "" "0" "" "" "g.94111454T>G" "" "VUS" ""
"0000121833" "0" "70" "1" "94508386" "94508386" "subst" "1.62443E-5" "01695" "ABCA4_000642" "g.94508386C>T" "ExAC 4, 121376, 0, 0.00003296" "{PMID:Simonelli 2005:15942264}" "" "E1087K" "" "Germline" "?" "" "0" "" "" "g.94042830C>T" "" "likely pathogenic" ""
"0000121834" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "ExAC 613, 121302, 4, 0.005054" "{PMID:Simonelli 2005:15942264}" "" "G1961E" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000121835" "0" "70" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "ExAC 21, 121302, 0, 0.0001731" "{PMID:Simonelli 2005:15942264}, {PMID:Testa 2012:22661472}" "" "N965S" "" "Germline" "-" "" "0" "" "" "g.94046943T>C" "" "likely pathogenic" ""
"0000121836" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "ExAC 613, 121302, 4, 0.005054" "{PMID:Simonelli 2005:15942264}, {PMID:Testa 2012:22661472}" "" "G1961E" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000121837" "3" "70" "1" "94577010" "94577010" "subst" "4.06679E-6" "01695" "ABCA4_000225" "g.94577010T>G" "" "{PMID:Simonelli 2005:15942264}, {PMID:Testa 2012:22661472}" "" "N96H" "" "Germline" "?" "" "0" "" "" "g.94111454T>G" "" "likely pathogenic" ""
"0000121838" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "ExAC 613, 121302, 4, 0.005054" "{PMID:Simonelli 2005:15942264}" "" "G1961E" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "pathogenic" ""
"0000121839" "0" "70" "1" "94577046" "94577049" "dup" "0" "01695" "ABCA4_000227" "g.94577046_94577049dup" "" "{PMID:Simonelli 2005:15942264}" "" "250insCAAA" "" "Germline" "?" "" "0" "" "" "g.94111490_94111493dup" "" "likely pathogenic" ""
"0000121840" "0" "70" "1" "94577010" "94577010" "subst" "4.06679E-6" "01695" "ABCA4_000225" "g.94577010T>G" "" "{PMID:Simonelli 2005:15942264}" "" "N96H" "" "Germline" "-" "" "0" "" "" "g.94111454T>G" "" "likely pathogenic" ""
"0000121841" "0" "70" "1" "94522347" "94522358" "del" "0" "01695" "ABCA4_000745" "g.94522347_94522358del" "" "{PMID:Simonelli 2005:15942264}" "" "2181del12" "" "Germline" "?" "" "0" "" "" "g.94056791_94056802del" "" "likely pathogenic" ""
"0000121842" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "ExAC 613, 121302, 4, 0.005054" "{PMID:Simonelli 2005:15942264}" "" "G1961E" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000121843" "0" "70" "1" "94486895" "94486895" "subst" "3.24923E-5" "01695" "ABCA4_000484" "g.94486895C>T" "ExAC 7, 121398, 0, 0.00005766" "{PMID:Simonelli 2005:15942264}" "" "R1640Q" "" "Germline" "?" "" "0" "" "" "g.94021339C>T" "" "likely pathogenic" ""
"0000121844" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "ExAC 613, 121302, 4, 0.005054" "{PMID:Simonelli 2005:15942264}" "" "G1961E" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000121845" "0" "70" "1" "94486895" "94486895" "subst" "3.24923E-5" "01695" "ABCA4_000484" "g.94486895C>T" "ExAC 7, 121398, 0, 0.00005766" "{PMID:Simonelli 2005:15942264}" "" "R1640Q" "" "Germline" "?" "" "0" "" "" "g.94021339C>T" "" "likely pathogenic" ""
"0000121846" "0" "90" "1" "94496008" "94496008" "subst" "2.03056E-5" "01695" "ABCA4_000148" "g.94496008C>T" "ExAC 3, 121360, 0, 0.00002472" "{PMID:Simonelli 2005:15942264}, {PMID:Testa 2012:22661472}" "" "R1443H" "" "Germline" "-" "" "0" "" "" "g.94030452C>T" "" "pathogenic" ""
"0000121847" "0" "70" "1" "94486794" "94486794" "subst" "0" "01695" "ABCA4_000478" "g.94486794A>G" "" "{PMID:Simonelli 2005:15942264}, {PMID:Testa 2012:22661472}" "" "5018+2tC" "" "Germline" "?" "" "0" "" "" "g.94021238A>G" "" "likely pathogenic" ""
"0000121848" "0" "50" "1" "94508386" "94508386" "subst" "1.62443E-5" "01695" "ABCA4_000642" "g.94508386C>T" "ExAC 4, 121376, 0, 0.00003296" "{PMID:Simonelli 2005:15942264}" "" "E1087K" "" "Germline" "-" "" "0" "" "" "g.94042830C>T" "" "VUS" ""
"0000121849" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "ExAC 42, 120772, 0, 0.0003478" "{PMID:Simonelli 2005:15942264}" "" "IVS40+5gA" "" "Germline" "?" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic" ""
"0000121850" "0" "90" "1" "94522239" "94522239" "subst" "2.03305E-5" "01695" "ABCA4_000736" "g.94522239A>T" "ExAC 1, 119332, 0, 0.00000838" "{PMID:Simonelli 2005:15942264}" "" "V767D" "" "Germline" "-" "" "0" "" "" "g.94056683A>T" "" "pathogenic" ""
"0000121851" "0" "70" "1" "94471056" "94471056" "subst" "2.84398E-5" "01695" "ABCA4_000050" "g.94471056G>A" "ExAC 3, 121402, 0, 0.00002471" "{PMID:Simonelli 2005:15942264}" "" "R2030X" "" "Germline" "?" "" "0" "" "" "g.94005500G>A" "" "likely pathogenic" ""
"0000121852" "0" "70" "1" "94522244" "94522244" "subst" "0" "01695" "ABCA4_000738" "g.94522244A>C" "" "{PMID:Simonelli 2005:15942264}" "" "S765R" "" "Germline" "-" "" "0" "" "" "g.94056688A>C" "" "likely pathogenic" ""
"0000121853" "0" "70" "1" "94466423" "94466423" "subst" "0" "01695" "ABCA4_000818" "g.94466423A>G" "" "{PMID:Simonelli 2005:15942264}" "" "C2150R" "" "Germline" "?" "" "0" "" "" "g.94000867A>G" "" "likely pathogenic" ""
"0000121854" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "ExAC 613, 121302, 4, 0.005054" "{PMID:Simonelli 2005:15942264}" "" "G1961E" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "pathogenic" ""
"0000121855" "0" "70" "1" "94486794" "94486794" "subst" "0" "01695" "ABCA4_000478" "g.94486794A>G" "" "{PMID:Simonelli 2005:15942264}" "" "5018+2tC" "" "Germline" "-" "" "0" "" "" "g.94021238A>G" "" "likely pathogenic" ""
"0000121856" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "ExAC 613, 121302, 4, 0.005054" "{PMID:Simonelli 2005:15942264}" "" "G1961E" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "pathogenic" ""
"0000121857" "0" "70" "1" "94486794" "94486794" "subst" "0" "01695" "ABCA4_000478" "g.94486794A>G" "" "{PMID:Simonelli 2005:15942264}" "" "5018+2tC" "" "Germline" "-" "" "0" "" "" "g.94021238A>G" "" "likely pathogenic" ""
"0000121858" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "ExAC 613, 121302, 4, 0.005054" "{PMID:Simonelli 2005:15942264}" "" "G1961E" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "pathogenic" ""
"0000121859" "0" "70" "1" "94486794" "94486794" "subst" "0" "01695" "ABCA4_000478" "g.94486794A>G" "" "{PMID:Simonelli 2005:15942264}" "" "5018+2tC" "" "Germline" "-" "" "0" "" "" "g.94021238A>G" "" "likely pathogenic" ""
"0000121860" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "ExAC 613, 121302, 4, 0.005054" "{PMID:Simonelli 2005:15942264}" "" "G1961E" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "pathogenic" ""
"0000121861" "0" "70" "1" "94486794" "94486794" "subst" "0" "01695" "ABCA4_000478" "g.94486794A>G" "" "{PMID:Simonelli 2005:15942264}" "" "5018+2tC" "" "Germline" "-" "" "0" "" "" "g.94021238A>G" "" "likely pathogenic" ""
"0000121862" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "ExAC 613, 121302, 4, 0.005054" "{PMID:Simonelli 2005:15942264}" "" "G1961E" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "pathogenic" ""
"0000121863" "0" "70" "1" "94486794" "94486794" "subst" "0" "01695" "ABCA4_000478" "g.94486794A>G" "" "{PMID:Simonelli 2005:15942264}" "" "5018+2tC" "" "Germline" "-" "" "0" "" "" "g.94021238A>G" "" "likely pathogenic" ""
"0000121864" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "ExAC 613, 121302, 4, 0.005054" "{PMID:Simonelli 2005:15942264}" "" "G1961E" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "pathogenic" ""
"0000121865" "0" "70" "1" "94486794" "94486794" "subst" "0" "01695" "ABCA4_000478" "g.94486794A>G" "" "{PMID:Simonelli 2005:15942264}" "" "5018+2tC" "" "Germline" "-" "" "0" "" "" "g.94021238A>G" "" "likely pathogenic" ""
"0000121866" "0" "90" "1" "94564383" "94564383" "subst" "0" "01695" "ABCA4_000371" "g.94564383A>C" "" "{PMID:Stenirri 2004:15192030}" "" "Y245X(735T>G)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000121867" "0" "50" "1" "94564383" "94564383" "subst" "0" "01695" "ABCA4_000371" "g.94564383A>C" "" "{PMID:Stenirri 2004:15192030}" "" "Y245X(735T>G)" "" "Germline" "" "" "0" "" "" "g.94098827A>C" "" "VUS" ""
"0000121868" "3" "90" "1" "94471056" "94471056" "subst" "2.84398E-5" "01695" "ABCA4_000050" "g.94471056G>A" "ExAC 3, 121402, 0, 0.00002471" "{PMID:Singh 2006:16546111}" "" "c.6088C>T" "" "Germline" "yes" "" "0" "" "" "g.94005500G>A" "" "pathogenic" ""
"0000121869" "3" "90" "1" "94471056" "94471056" "subst" "2.84398E-5" "01695" "ABCA4_000050" "g.94471056G>A" "ExAC 3, 121402, 0, 0.00002471" "{PMID:Singh 2006:16546111}" "" "c.6088C>T" "" "Germline" "yes" "" "0" "" "" "g.94005500G>A" "" "pathogenic" ""
"0000121870" "3" "90" "1" "94471056" "94471056" "subst" "2.84398E-5" "01695" "ABCA4_000050" "g.94471056G>A" "ExAC 3, 121402, 0, 0.00002471" "{PMID:Singh 2006:16546111}" "" "c.6088C>T" "" "Germline" "yes" "" "0" "" "" "g.94005500G>A" "" "pathogenic" ""
"0000121871" "3" "90" "1" "94544893" "94544893" "del" "0" "01695" "ABCA4_000328" "g.94544893del" "" "{PMID:Singh 2006:16546111}" "" "c.1225delA" "" "Germline" "yes" "" "0" "" "" "g.94079337del" "" "pathogenic" ""
"0000121872" "3" "90" "1" "94544893" "94544893" "del" "0" "01695" "ABCA4_000328" "g.94544893del" "" "{PMID:Singh 2006:16546111}" "" "c.1225delA" "" "Germline" "yes" "" "0" "" "" "g.94079337del" "" "pathogenic" ""
"0000121873" "3" "90" "1" "94466426" "94466426" "subst" "1.62433E-5" "01695" "ABCA4_000124" "g.94466426G>A" "ExAC 2, 121400, 0, 0.00001647" "{PMID:Fukui 2006:16604398}" "" "Arg2149stop" "" "Germline" "" "" "0" "" "" "g.94000870G>A" "" "pathogenic" ""
"0000121874" "21" "70" "1" "94466426" "94466426" "subst" "1.62433E-5" "01695" "ABCA4_000124" "g.94466426G>A" "ExAC 2, 121400, 0, 0.00001647" "{PMID:Fukui 2006:16604398}" "" "Arg2149stop" "" "Germline" "" "" "0" "" "" "g.94000870G>A" "" "likely pathogenic" ""
"0000121875" "11" "90" "1" "94543419" "94543419" "subst" "0" "01695" "ABCA4_000188" "g.94543419T>A" "" "{PMID:Fukui 2006:16604398}" "" "Leu461stop" "" "Germline" "" "" "0" "" "" "g.94077863T>A" "" "pathogenic" ""
"0000121876" "21" "70" "1" "94466426" "94466426" "subst" "1.62433E-5" "01695" "ABCA4_000124" "g.94466426G>A" "ExAC 2, 121400, 0, 0.00001647" "{PMID:Fukui 2006:16604398}" "" "Arg2149stop" "" "Germline" "" "" "0" "" "" "g.94000870G>A" "" "likely pathogenic" ""
"0000121877" "11" "90" "1" "94543419" "94543419" "subst" "0" "01695" "ABCA4_000188" "g.94543419T>A" "" "{PMID:Fukui 2006:16604398}" "" "Leu461stop" "" "Germline" "" "" "0" "" "" "g.94077863T>A" "" "pathogenic" ""
"0000121878" "21" "90" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "ExAC 14, 120056, 0, 0.0001166" "{PMID:Stenirri 2006:16681420}" "" "R212C" "" "De novo" "" "" "0" "" "" "g.94098928G>A" "" "pathogenic" ""
"0000121879" "11" "70" "1" "94461724" "94461767" "del" "0" "01695" "ABCA4_000848" "g.94461724_94461767del" "" "{PMID:Stenirri 2006:16681420}" "" "6730–16del44" "" "Germline" "" "" "0" "" "" "g.93996168_93996211del" "" "likely pathogenic" ""
"0000121880" "0" "70" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "ExAC 13, 121216, 0, 0.0001072" "{PMID:Valverde 2006:16917483}" "" "(768G>T)" "" "Germline" "" "" "0" "" "" "g.94098794C>A" "" "likely pathogenic" ""
"0000121881" "0" "50" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "ExAC 30, 121388, 0, 0.0002471" "{PMID:Valverde 2006:16917483}" "" "(3386G>T)" "" "Germline" "" "" "0" "" "" "g.94041345C>A" "" "VUS" ""
"0000121882" "0" "50" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "ExAC 30, 121388, 0, 0.0002471" "{PMID:Valverde 2006:16917483}" "" "(3386G>T)" "" "Germline" "" "" "0" "" "" "g.94041345C>A" "" "VUS" ""
"0000121883" "0" "50" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "ExAC 30, 121388, 0, 0.0002471" "{PMID:Valverde 2006:16917483}, {PMID:Riveiro-Alvarez 2013:23755871}" "" "(3386G>T)" "" "Germline" "" "" "0" "" "" "g.94041345C>A" "" "VUS" ""
"0000121884" "0" "70" "1" "94463587" "94463587" "subst" "0" "01695" "ABCA4_000136" "g.94463587G>A" "" "{PMID:Valverde 2006:16917483}, {PMID:Riveiro-Alvarez 2013:23755871}" "" "c.6559C>T" "" "Germline" "" "" "0" "" "" "g.93998031G>A" "" "likely pathogenic" ""
"0000121885" "0" "50" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "ExAC 30, 121388, 0, 0.0002471" "{PMID:Valverde 2006:16917483}" "" "(3386G>T)" "" "Germline" "" "" "0" "" "" "g.94041345C>A" "" "VUS" ""
"0000121886" "0" "70" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "ExAC 30, 121388, 0, 0.0002471" "{PMID:Valverde 2006:16917483}, {PMID:Riveiro-Alvarez 2013:23755871}" "" "(3386G>T)" "" "Germline" "" "" "0" "" "" "g.94041345C>A" "" "likely pathogenic" ""
"0000121887" "0" "70" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "ExAC 6, 119038, 0, 0.0000504" "{PMID:Valverde 2006:16917483}, {PMID:Riveiro-Alvarez 2013:23755871}" "" "(1804C>T)" "" "Germline" "" "" "0" "" "" "g.94062710G>A" "" "likely pathogenic" ""
"0000121888" "0" "70" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "ExAC 30, 121388, 0, 0.0002471" "{PMID:Valverde 2006:16917483}, {PMID:Riveiro-Alvarez 2013:23755871}" "" "(3386G>T)" "" "Germline" "" "" "0" "" "" "g.94041345C>A" "" "likely pathogenic" ""
"0000121889" "1" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "ExAC 613, 121302, 4, 0.005054" "{PMID:Valverde 2006:16917483}, {PMID:Riveiro-Alvarez 2013:23755871}" "" "(5882GT" "" "likely pathogenic" ""
"0000121890" "0" "70" "1" "94506923" "94506923" "subst" "2.43657E-5" "01695" "ABCA4_000012" "g.94506923C>T" "ExAC 3, 121394, 0, 0.00002471" "{PMID:Valverde 2006:16917483}, {PMID:Riveiro-Alvarez 2013:23755871}" "" "(3364G>A)" "" "Germline" "" "" "0" "" "" "g.94041367C>T" "" "likely pathogenic" ""
"0000121891" "0" "70" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "ExAC 30, 121388, 0, 0.0002471" "{PMID:Valverde 2006:16917483}, {PMID:Riveiro-Alvarez 2013:23755871}" "" "(3386G>T)" "" "Germline" "" "" "0" "" "" "g.94041345C>A" "" "likely pathogenic" ""
"0000121892" "0" "50" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "ExAC 30, 121388, 0, 0.0002471" "{PMID:Valverde 2006:16917483}, {PMID:Riveiro-Alvarez 2013:23755871}" "" "(3386G>T)" "" "Germline" "" "" "0" "" "" "g.94041345C>A" "" "VUS" ""
"0000121893" "0" "70" "1" "94474323" "94474323" "subst" "2.03034E-5" "01695" "ABCA4_000156" "g.94474323A>G" "ExAC 1, 121410, 0, 0.000008237" "{PMID:Valverde 2006:16917483}, {PMID:Riveiro-Alvarez 2013:23755871}" "" "(5819T>C)" "" "Germline" "" "" "0" "" "" "g.94008767A>G" "" "likely pathogenic" ""
"0000121894" "0" "70" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "ExAC 30, 121388, 0, 0.0002471" "{PMID:Valverde 2006:16917483}, {PMID:Riveiro-Alvarez 2013:23755871}" "" "(3386G>T)" "" "Germline" "" "" "0" "" "" "g.94041345C>A" "" "likely pathogenic" ""
"0000121895" "0" "70" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "ExAC 30, 121388, 0, 0.0002471" "{PMID:Valverde 2006:16917483}, {PMID:Riveiro-Alvarez 2013:23755871}" "" "(3386G>T)" "" "Germline" "" "" "0" "" "" "g.94041345C>A" "" "likely pathogenic" ""
"0000121896" "1" "50" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Valverde 2006:16917483}, {PMID:Riveiro-Alvarez 2013:23755871}" "" "c.[3322C>T; 6320G>A]" "" "Germline" "" "" "0" "" "" "g.94042767G>A" "" "VUS" ""
"0000121897" "1" "70" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Valverde 2006:16917483}, {PMID:Riveiro-Alvarez 2013:23755871}" "" "c.[3322C>T; 6320G>A]" "" "Germline" "" "" "0" "" "" "g.94001068C>T" "" "likely pathogenic" ""
"0000121898" "0" "70" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "ExAC 30, 121388, 0, 0.0002471" "{PMID:Valverde 2006:16917483}, {PMID:Riveiro-Alvarez 2013:23755871}" "" "(3386G>T)" "" "Germline" "" "" "0" "" "" "g.94041345C>A" "" "likely pathogenic" ""
"0000121899" "1" "70" "1" "94496583" "94496583" "subst" "2.03092E-5" "01695" "ABCA4_000190" "g.94496583A>G" "" "{PMID:Valverde 2006:16917483}, {PMID:Riveiro-Alvarez 2013:23755871}" "" "(4918C>T);(4222T>C)" "" "Germline" "" "" "0" "" "" "g.94031027A>G" "" "likely pathogenic" ""
"0000121900" "1" "70" "1" "94486896" "94486896" "subst" "3.65562E-5" "01695" "ABCA4_000085" "g.94486896G>A" "" "{PMID:Valverde 2006:16917483}, {PMID:Riveiro-Alvarez 2013:23755871}" "" "(4918C>T);(4222T>C)" "" "Germline" "" "" "0" "" "" "g.94021340G>A" "" "likely pathogenic" ""
"0000121901" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "ExAC 30, 121388, 0, 0.0002471" "{PMID:Valverde 2006:16917483}" "" "(3386G>T)" "" "Germline" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic" ""
"0000121902" "0" "70" "1" "94564447" "94564447" "del" "0" "01695" "ABCA4_000138" "g.94564447del" "" "{PMID:Valverde 2006:16917483}" "" "671delC" "" "Germline" "" "" "0" "" "" "g.94098891del" "" "likely pathogenic" ""
"0000121903" "0" "70" "1" "94473266" "94473266" "subst" "8.14677E-6" "01695" "ABCA4_000389" "g.94473266C>T" "ExAC 1, 120422, 0, 0.000008304" "{PMID:Valverde 2006:16917483}, {PMID:Riveiro-Alvarez 2013:23755871}" "" "(5929G>A)" "" "Germline" "" "" "0" "" "" "g.94007710C>T" "" "likely pathogenic" ""
"0000121904" "0" "70" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "ExAC 30, 121388, 0, 0.0002471" "{PMID:Valverde 2006:16917483}, {PMID:Riveiro-Alvarez 2013:23755871}" "" "(3386G>T)" "" "Germline" "" "" "0" "" "" "g.94041345C>A" "" "likely pathogenic" ""
"0000121905" "0" "70" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "ExAC 30, 121388, 0, 0.0002471" "{PMID:Valverde 2006:16917483}, {PMID:Riveiro-Alvarez 2013:23755871}" "" "(3386G>T)" "" "Germline" "" "" "0" "" "" "g.94041345C>A" "" "likely pathogenic" ""
"0000121906" "0" "70" "1" "94486888" "94486888" "subst" "3.65548E-5" "01695" "ABCA4_000137" "g.94486888G>C" "ExAC 4, 121404, 0, 0.00003295" "{PMID:Valverde 2006:16917483}, {PMID:Riveiro-Alvarez 2013:23755871}" "" "(4926C>G)" "" "Germline" "" "" "0" "" "" "g.94021332G>C" "" "likely pathogenic" ""
"0000121907" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "ExAC 30, 121388, 0, 0.0002471" "{PMID:Valverde 2006:16917483}" "" "(3386G>T)" "" "Germline" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic" ""
"0000121908" "0" "70" "1" "94458792" "94586602" "del" "0" "01695" "ABCA4_000000" "g.(?_94458792)_(94586602_?)del" "" "{PMID:Valverde 2006:16917483}" "" "c.(?_1)_(6822_?)del" "deletion encompassing region flanked by extragenic markers D1S435 and D1S2793" "Germline" "" "" "0" "" "" "g.(?_93993236)_(94121046_?)del" "" "likely pathogenic" ""
"0000121909" "3" "70" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "ExAC 30, 121388, 0, 0.0002471" "{PMID:Valverde 2006:16917483}" "" "(3386G>T)" "" "Germline" "" "" "0" "" "" "g.94041345C>A" "" "likely pathogenic" ""
"0000121910" "3" "70" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "ExAC 30, 121388, 0, 0.0002471" "{PMID:Valverde 2006:16917483}, {PMID:Riveiro-Alvarez 2013:23755871}" "" "(3386G>T)" "" "Germline" "" "" "0" "" "" "g.94041345C>A" "" "likely pathogenic" ""
"0000121911" "3" "70" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "ExAC 30, 121388, 0, 0.0002471" "{PMID:Valverde 2006:16917483}" "" "(3386G>T)" "" "Germline" "" "" "0" "" "" "g.94041345C>A" "" "likely pathogenic" ""
"0000121912" "3" "70" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "ExAC 30, 121388, 0, 0.0002471" "{PMID:Valverde 2006:16917483}" "" "(3386G>T)" "" "Germline" "" "" "0" "" "" "g.94041345C>A" "" "likely pathogenic" ""
"0000121913" "3" "70" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "ExAC 30, 121388, 0, 0.0002471" "{PMID:Valverde 2006:16917483}" "" "(3386G>T)" "" "Germline" "" "" "0" "" "" "g.94041345C>A" "" "likely pathogenic" ""
"0000121914" "0" "50" "1" "94568687" "94568687" "subst" "1.62641E-5" "01695" "ABCA4_000024" "g.94568687G>A" "ExAC 1, 120844, 0, 0.000008275" "{PMID:Souied 1999:10509673}" "" "C-to-T transition, at nucleotide 450" "" "Germline" "" "" "0" "" "" "g.94103131G>A" "" "VUS" ""
"0000121915" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "ExAC 613, 121302, 4, 0.005054" "{PMID:Rudolph 2002:12353176}" "" "G5882G>A" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic" ""
"0000121916" "0" "70" "1" "94473278" "94473278" "del" "3.25908E-5" "01695" "ABCA4_000392" "g.94473278del" "" "{PMID:Rudolph 2002:12353176}" "" "5917delG" "" "Germline" "yes" "" "0" "" "" "g.94007722del" "" "likely pathogenic" ""
"0000121917" "3" "90" "1" "94473278" "94473278" "del" "3.25908E-5" "01695" "ABCA4_000392" "g.94473278del" "" "{PMID:Klevering 1999:10413692}" "" "5917delG" "" "Germline" "yes" "" "0" "" "" "g.94007722del" "" "pathogenic" ""
"0000121918" "3" "90" "1" "94510248" "94510248" "subst" "0" "01695" "ABCA4_000669" "g.94510248C>A" "" "{PMID:Simonelli 2004:15017103}" "" "2971G>T" "" "Germline" "yes" "" "0" "" "" "g.94044692C>A" "" "pathogenic" ""
"0000121919" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "ExAC 613, 121302, 4, 0.005054" "{PMID:Kang Derwent 2004:15223829}" "" "gly1961glu" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000121920" "3" "70" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "ExAC 30, 121388, 0, 0.0002471" "{PMID:Riveiro-Alvarez 2007:17277736}" "" "p.Arg1129Leu (c.3386G>T)" "" "Uniparental disomy, paternal allele" "?" "" "0" "" "" "g.94041345C>A" "" "likely pathogenic" ""
"0000121921" "3" "70" "1" "94564387" "94564387" "subst" "4.06111E-6" "01695" "ABCA4_000372" "g.94564387A>G" "ExAC 1, 121328, 0, 0.000008242" "{PMID:Kitiratschky 2008:18285826}" "" "c.731T>C" "" "Germline" "?" "" "0" "" "" "g.94098831A>G" "" "likely pathogenic" ""
"0000121922" "3" "90" "1" "94564383" "94564383" "subst" "0" "01695" "ABCA4_000371" "g.94564383A>C" "" "{PMID:Kitiratschky 2008:18285826}" "" "c.735T>G" "" "Germline" "yes" "" "0" "" "" "g.94098827A>C" "" "pathogenic" ""
"0000121923" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Kitiratschky 2008:18285826}" "" "[c.1622T>C;c.3113C>T]" "" "Germline" "-" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000121924" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Kitiratschky 2008:18285826}" "" "[c.1622T>C;c.3113C>T]" "" "Germline" "-" "" "0" "" "" "g.94043413G>A" "" "pathogenic" ""
"0000121925" "0" "70" "1" "94487194" "94487194" "subst" "0" "01695" "ABCA4_000488" "g.94487194A>G" "" "{PMID:Kitiratschky 2008:18285826}" "" "c.4848+2T>C" "" "Germline" "yes" "" "0" "" "" "g.94021638A>G" "" "likely pathogenic" ""
"0000121926" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "ExAC 601, 118484, 2, 0.005072" "{PMID:Kitiratschky 2008:18285826}" "" "c.2588G>C" "" "Germline" "-" "rs76157638" "0" "" "" "g.94051698C>G" "" "pathogenic" ""
"0000121927" "0" "90" "1" "94485134" "94485137" "del" "0" "01695" "ABCA4_000462" "g.94485134_94485137del" "" "{PMID:Kitiratschky 2008:18285826}" "" "c.5196+1_c.5196+4del" "" "Germline" "?" "" "0" "" "" "g.94019578_94019581del" "" "pathogenic" ""
"0000121928" "0" "50" "1" "94502906" "94502906" "subst" "0.000314086" "01695" "ABCA4_000605" "g.94502906C>T" "ExAC 41, 120342, 0, 0.0003407" "{PMID:Kitiratschky 2008:18285826}" "" "c.3608G>A" "on its own not significantely found more often in published STGD compared to ExAC (p-value 0.89; together with other non-significant variants published related to STGD,significantly more often in STGD patients (p-value <0.01); found no variant 2nd chromosome" "Germline" "-" "" "0" "" "" "g.94037350C>T" "" "VUS" ""
"0000121929" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "ExAC 24, 119274, 0, 0.0002012" "{PMID:Kitiratschky 2008:18285826}" "" "c.4139C>T" "" "Germline" "-" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic" ""
"0000121930" "0" "70" "1" "94467467" "94467467" "subst" "4.06164E-6" "01695" "ABCA4_000780" "g.94467467G>A" "" "{PMID:Kitiratschky 2008:18285826}" "" "c.6229C>T" "" "Germline" "yes" "" "0" "" "" "g.94001911G>A" "" "likely pathogenic" ""
"0000121931" "0" "70" "1" "94528142" "94528142" "subst" "0.00153303" "01695" "ABCA4_000125" "g.94528142A>C" "ExAC 163, 121098, 1, 0.001346" "{PMID:Kitiratschky 2008:18285826}" "" "c.1928T>G" "" "Germline" "?" "" "0" "" "" "g.94062586A>C" "" "likely pathogenic" ""
"0000121932" "0" "30" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "ExAC 24, 119274, 0, 0.0002012" "{PMID:Kitiratschky 2008:18285826}" "" "c.4139C>T" "" "Germline" "-" "" "0" "" "" "g.94031110G>A" "" "likely benign" ""
"0000121933" "0" "90" "1" "94481322" "94481322" "subst" "0" "01695" "ABCA4_000129" "g.94481322G>T" "" "{PMID:Kitiratschky 2008:18285826}" "" "c.5285C>A" "" "Germline" "-" "" "0" "" "" "g.94015766G>T" "" "pathogenic" ""
"0000121934" "0" "70" "1" "94505652" "94505667" "del" "0" "01695" "ABCA4_000607" "g.94505652_94505667del" "" "{PMID:Kitiratschky 2008:18285826}" "" "c.3539_c.3554del" "" "Germline" "yes" "" "0" "" "" "g.94040096_94040111del" "" "likely pathogenic" ""
"0000121935" "0" "70" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "ExAC 27, 121030, 0, 0.0002231" "{PMID:Kitiratschky 2008:18285826}" "" "c.5461_10T>C" "" "Germline" "-" "" "0" "" "" "g.94011395A>G" "" "likely pathogenic" ""
"0000121936" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "ExAC 613, 121302, 4, 0.005054" "{PMID:Kitiratschky 2008:18285826}" "" "c.5882G>A" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000121937" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "ExAC 27, 121030, 0, 0.0002231" "{PMID:Kitiratschky 2008:18285826}" "" "c.5461_10T>C" "" "Germline" "-" "" "0" "" "" "g.94011395A>G" "" "pathogenic" ""
"0000121938" "0" "50" "1" "94564418" "94564418" "subst" "0" "01695" "ABCA4_000375" "g.94564418G>A" "" "{PMID:Kitiratschky 2008:18285826}" "" "c.700C>T" "" "Germline" "?" "" "0" "" "" "g.94098862G>A" "" "VUS" ""
"0000121939" "0" "50" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "ExAC 27, 121030, 0, 0.0002231" "{PMID:Kitiratschky 2008:18285826}" "" "c.5461_10T>C" "found no variant 2nd chromosome" "Germline" "-" "" "0" "" "" "g.94011395A>G" "" "VUS" ""
"0000121940" "0" "50" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "ExAC 27, 121030, 0, 0.0002231" "{PMID:Kitiratschky 2008:18285826}" "" "c.5461_10T>C" "found no variant 2nd chromosome" "Germline" "-" "" "0" "" "" "g.94011395A>G" "" "VUS" ""
"0000121941" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "ExAC 27, 121030, 0, 0.0002231" "{PMID:Kitiratschky 2008:18285826}" "" "c.5461_10T>C" "" "Germline" "-" "" "0" "" "" "g.94011395A>G" "" "pathogenic" ""
"0000121942" "0" "50" "1" "94485137" "94485137" "subst" "0" "01695" "ABCA4_000464" "g.94485137C>T" "ExAC 3, 49858, 0, 0.00006017" "{PMID:Kitiratschky 2008:18285826}" "" "c.5196+1G>A" "" "Germline" "yes" "" "0" "" "" "g.94019581C>T" "" "VUS" ""
"0000121943" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "ExAC 27, 121030, 0, 0.0002231" "{PMID:Kitiratschky 2008:18285826}" "" "c.5461_10T>C" "" "Germline" "-" "" "0" "" "" "g.94011395A>G" "" "pathogenic" ""
"0000121944" "0" "50" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "ExAC 601, 118484, 2, 0.005072" "{PMID:Kitiratschky 2008:18285826}" "" "c.2588G>C" "" "Germline" "?" "rs76157638" "0" "" "" "g.94051698C>G" "" "VUS" ""
"0000121945" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "ExAC 27, 121030, 0, 0.0002231" "{PMID:Kitiratschky 2008:18285826}" "" "c.5461_10T>C" "" "Germline" "-" "" "0" "" "" "g.94011395A>G" "" "pathogenic" ""
"0000121946" "0" "50" "1" "94496571" "94496571" "subst" "4.06174E-6" "01695" "ABCA4_000111" "g.94496571G>A" "" "{PMID:Kitiratschky 2008:18285826}" "" "c.4234C>T" "" "Germline" "?" "" "0" "" "" "g.94031015G>A" "" "VUS" ""
"0000121947" "0" "50" "1" "94495083" "94495083" "subst" "0.000124542" "01695" "ABCA4_000542" "g.94495083G>A" "ExAC 11, 77176, 0, 0.0001425" "{PMID:Kitiratschky 2008:18285826}" "" "c.4457C>T" "" "Germline" "?" "" "0" "" "" "g.94029527G>A" "" "VUS" ""
"0000121948" "0" "70" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "ExAC 27, 121030, 0, 0.0002231" "{PMID:Kitiratschky 2008:18285826}" "" "c.5461_10T>C" "" "Germline" "-" "" "0" "" "" "g.94011395A>G" "" "likely pathogenic" ""
"0000121949" "0" "90" "1" "94474323" "94474323" "subst" "2.03034E-5" "01695" "ABCA4_000156" "g.94474323A>G" "ExAC 1, 121410, 0, 0.000008237" "{PMID:Kitiratschky 2008:18285826}" "" "c.5819T>C" "" "Germline" "yes" "" "0" "" "" "g.94008767A>G" "" "pathogenic" ""
"0000121950" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "ExAC 42, 120772, 0, 0.0003478" "{PMID:Kitiratschky 2008:18285826}" "" "c.5714+5G>A" "" "Germline" "-" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic" ""
"0000121951" "3" "90" "1" "94473278" "94473278" "del" "3.25908E-5" "01695" "ABCA4_000392" "g.94473278del" "" "{PMID:Kitiratschky 2008:18285826}" "" "c.5917delG" "" "Germline" "yes" "" "0" "" "" "g.94007722del" "" "pathogenic" ""
"0000121952" "0" "90" "1" "94495078" "94495078" "subst" "8.37044E-6" "01695" "ABCA4_000042" "g.94495078A>G" "ExAC 1, 70400, 0, 0.0000142" "{PMID:Kitiratschky 2008:18285826}" "" "c.4462T>C" "" "Germline" "yes" "" "0" "" "" "g.94029522A>G" "" "pathogenic" ""
"0000121953" "0" "70" "1" "94473278" "94473278" "del" "3.25908E-5" "01695" "ABCA4_000392" "g.94473278del" "" "{PMID:Kitiratschky 2008:18285826}" "" "c.5917delG" "" "Germline" "-" "" "0" "" "" "g.94007722del" "" "likely pathogenic" ""
"0000121954" "0" "50" "1" "94467548" "94467548" "subst" "0.00295661" "01695" "ABCA4_000788" "g.94467548C>G" "ExAC 334, 121350, 0, 0.002752" "{PMID:Kitiratschky 2008:18285826}" "" "c.6148G>C" "found no variant 2nd chromosome" "Germline" "-" "" "0" "" "" "g.94001992C>G" "" "VUS" ""
"0000121955" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "ExAC 613, 121302, 4, 0.005054" "{PMID:Valverde 2007:17325136}" "" "[5582G>A;6764G>T]" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000121956" "0" "50" "1" "94568675" "94568675" "subst" "0.00146249" "01695" "ABCA4_000210" "g.94568675T>C" "ExAC 159, 120956, 0, 0.001315" "{PMID:Valverde 2007:17325136}" "" "466A>G" "On its own not significantely found more often in published STGD compared to ExAC (p-value 0.50). However, together with other non-significant variants published related to STGD, they are significantly more often in STGD patients (p-value <0.01)." "Germline" "" "" "0" "" "" "g.94103119T>C" "" "VUS" ""
"0000121957" "0" "50" "1" "94512565" "94512565" "subst" "0.030364" "01695" "ABCA4_000002" "g.94512565C>T" "ExAC 3722, 121196, 87, 0.03071" "{PMID:Valverde 2007:17325136}" "" "2828G>A" "" "Germline" "" "" "0" "" "" "g.94047009C>T" "" "VUS" ""
"0000121958" "3" "90" "1" "94512507" "94512507" "del" "0" "01695" "ABCA4_000155" "g.94512507del" "" "{PMID:Valverde 2007:17325136}" "" "2888delG" "" "Germline" "yes" "" "0" "" "" "g.94046951del" "" "pathogenic" ""
"0000121959" "0" "50" "1" "94461717" "94461717" "subst" "0.0703199" "01695" "ABCA4_000003" "g.94461717C>A" "ExAC 9726, 121220, 1412, 0.08023" "{PMID:Valverde 2007:17325136}" "" "6764G>T" "" "Germline" "" "" "0" "" "" "g.93996161C>A" "" "VUS" ""
"0000121960" "3" "90" "1" "94512507" "94512507" "del" "0" "01695" "ABCA4_000155" "g.94512507del" "" "{PMID:Valverde 2007:17325136}" "" "2888delG" "" "Germline" "yes" "" "0" "" "" "g.94046951del" "" "pathogenic" ""
"0000121961" "0" "50" "1" "94496039" "94496039" "subst" "0.00157963" "01695" "ABCA4_000552" "g.94496039C>T" "ExAC 173, 121380, 1, 0.001425" "{PMID:Valverde 2007:17325136}, {PMID:Riveiro-Alvarez 2013:23755871}" "" "4297G>A" "On its own not significantely found more often in published STGD compared to ExAC (p-value 0.71). However, together with other non-significant variants published related to STGD, they are significantly more often in STGD patients (p-value <0.01)." "Germline" "" "" "0" "" "" "g.94030483C>T" "" "VUS" ""
"0000121962" "3" "70" "1" "94473266" "94473266" "subst" "8.14677E-6" "01695" "ABCA4_000389" "g.94473266C>T" "ExAC 1, 120422, 0, 0.000008304" "{PMID:Valverde 2007:17325136}" "" "[2828G>A;5929G>A]" "" "Germline" "yes" "" "0" "" "" "g.94007710C>T" "" "likely pathogenic" ""
"0000121963" "0" "90" "1" "94586570" "94586570" "subst" "4.06101E-6" "01695" "ABCA4_000154" "g.94586570A>G" "ExAC 1, 121404, 0, 0.000008237" "{PMID:Valverde 2007:17325136}" "" "32T>C" "" "Germline" "" "" "0" "" "" "g.94121014A>G" "" "pathogenic" ""
"0000121964" "0" "70" "1" "94512507" "94512507" "del" "0" "01695" "ABCA4_000155" "g.94512507del" "" "{PMID:Valverde 2007:17325136}" "" "2888delG" "" "Germline" "yes" "" "0" "" "" "g.94046951del" "" "likely pathogenic" ""
"0000121965" "0" "50" "1" "94512565" "94512565" "subst" "0.030364" "01695" "ABCA4_000002" "g.94512565C>T" "ExAC 3722, 121196, 87, 0.03071" "{PMID:Valverde 2007:17325136}" "" "2828G>A" "" "Germline" "" "" "0" "" "" "g.94047009C>T" "" "VUS" ""
"0000121966" "0" "90" "1" "94486896" "94486896" "subst" "3.65562E-5" "01695" "ABCA4_000085" "g.94486896G>A" "ExAC 1, 121394, 0, 0.000008238" "{PMID:Valverde 2007:17325136}, {PMID:Riveiro-Alvarez 2013:23755871}" "" "4918C>T" "" "Germline" "" "" "0" "" "" "g.94021340G>A" "" "pathogenic" ""
"0000121967" "0" "70" "1" "94470995" "94470995" "subst" "0" "01695" "ABCA4_000183" "g.94470995A>T" "" "{PMID:Valverde 2007:17325136}, {PMID:Riveiro-Alvarez 2013:23755871}" "" "c.6147+2T>A" "" "Germline" "yes" "" "0" "" "" "g.94005439A>T" "" "likely pathogenic" ""
"0000121968" "0" "90" "1" "94467517" "94467517" "subst" "0" "01695" "ABCA4_000786" "g.94467517A>C" "" "{PMID:Valverde 2007:17325136}, {PMID:Riveiro-Alvarez 2013:23755871}" "" "6179T>G" "" "Germline" "yes" "" "0" "" "" "g.94001961A>C" "" "pathogenic" ""
"0000121969" "0" "70" "1" "94512507" "94512507" "del" "0" "01695" "ABCA4_000155" "g.94512507del" "" "{PMID:Valverde 2007:17325136}, {PMID:Riveiro-Alvarez 2013:23755871}" "" "2888delG" "" "Germline" "-" "" "0" "" "" "g.94046951del" "" "likely pathogenic" ""
"0000121970" "3" "70" "1" "94485279" "94485293" "del" "0" "01695" "ABCA4_000476" "g.94485279_94485293del" "" "{PMID:Valverde 2007:17325136}" "" "5041del15pb" "" "Germline" "yes" "" "0" "" "" "g.94019723_94019737del" "" "likely pathogenic" ""
"0000121975" "1" "50" "1" "94544977" "94544977" "subst" "0.000544432" "01695" "ABCA4_000332" "g.94544977A>T" "" "{PMID:Valverde 2007:17325136}, {PMID:Riveiro-Alvarez 2013:23755871}" "" "c.[1140T>A; 5395A>G]" "" "Germline" "-" "" "0" "" "" "g.94079421A>T" "" "VUS" ""
"0000121976" "1" "50" "1" "94480164" "94480164" "subst" "0" "01695" "ABCA4_000440" "g.94480164T>C" "" "{PMID:Valverde 2007:17325136}, {PMID:Riveiro-Alvarez 2013:23755871}" "" "c.[1140T>A; 5395A>G]" "" "Germline" "-" "" "0" "" "" "g.94014608T>C" "" "VUS" ""
"0000121977" "0" "50" "1" "94512565" "94512565" "subst" "0.030364" "01695" "ABCA4_000002" "g.94512565C>T" "3722, 121196, 87, 0.03071" "{PMID:Valverde 2007:17325136}" "" "2828G>A" "" "Germline" "-" "" "0" "" "" "g.94047009C>T" "" "VUS" ""
"0000121978" "0" "30" "1" "94514466" "94514466" "subst" "0.00192081" "01695" "ABCA4_000008" "g.94514466T>C" "212, 121284, 0, 0.001748" "{PMID:Valverde 2007:17325136}" "" "2701A>G" "" "Germline" "?" "" "0" "" "" "g.94048910T>C" "" "likely benign" ""
"0000121979" "0" "30" "1" "94512565" "94512565" "subst" "0.030364" "01695" "ABCA4_000002" "g.94512565C>T" "3722, 121196, 87, 0.03071" "{PMID:Valverde 2007:17325136}" "" "2828G>A" "" "Germline" "-" "" "0" "" "" "g.94047009C>T" "" "likely benign" ""
"0000121980" "0" "30" "1" "94548900" "94548900" "subst" "0" "01695" "ABCA4_000357" "g.94548900C>A" "" "{PMID:Valverde 2007:17325136}" "" "c.858+8T>G" "" "Germline" "?" "" "0" "" "" "g.94083344C>A" "" "likely benign" ""
"0000121981" "0" "50" "1" "94461717" "94461717" "subst" "0.0703199" "01695" "ABCA4_000003" "g.94461717C>A" "9726, 121220, 1412, 0.08023" "{PMID:Valverde 2007:17325136}" "" "6764G>T" "" "Germline" "-" "" "0" "" "" "g.93996161C>A" "" "VUS" ""
"0000121982" "0" "70" "1" "94548900" "94548900" "subst" "0" "01695" "ABCA4_000357" "g.94548900C>A" "" "{PMID:Valverde 2007:17325136}" "" "c.858+8T>G" "" "Germline" "?" "" "0" "" "" "g.94083344C>A" "" "likely pathogenic" ""
"0000121983" "0" "50" "1" "94522239" "94522239" "subst" "2.03305E-5" "01695" "ABCA4_000736" "g.94522239A>T" "1, 119332, 0, 0.00000838" "{PMID:Valverde 2007:17325136}" "" "2300T>A" "" "Germline" "-" "" "0" "" "" "g.94056683A>T" "" "VUS" ""
"0000121984" "0" "30" "1" "94548900" "94548900" "subst" "0" "01695" "ABCA4_000357" "g.94548900C>A" "" "{PMID:Valverde 2007:17325136}" "" "c.858+8T>G" "" "Germline" "?" "" "0" "" "" "g.94083344C>A" "" "likely benign" ""
"0000121985" "0" "50" "1" "94568675" "94568675" "subst" "0.00146249" "01695" "ABCA4_000210" "g.94568675T>C" "159, 120956, 0, 0.001315" "{PMID:Valverde 2007:17325136}" "" "466A>G" "On its own not significantely found more often in published STGD compared to ExAC (p-value 0.50). However, together with other non-significant variants published related to STGD, they are significantly more often in STGD patients (p-value <0.01)." "Germline" "-" "" "0" "" "" "g.94103119T>C" "" "VUS" ""
"0000121986" "0" "50" "1" "94461717" "94461717" "subst" "0.0703199" "01695" "ABCA4_000003" "g.94461717C>A" "9726, 121220, 1412, 0.08023" "{PMID:Valverde 2007:17325136}" "" "6764G>T" "" "Germline" "-" "" "0" "" "" "g.93996161C>A" "" "VUS" ""
"0000121987" "0" "50" "1" "94461717" "94461717" "subst" "0.0703199" "01695" "ABCA4_000003" "g.94461717C>A" "9726, 121220, 1412, 0.08023" "{PMID:Valverde 2007:17325136}" "" "6764G>T" "" "Germline" "-" "" "0" "" "" "g.93996161C>A" "" "VUS" ""
"0000121988" "0" "50" "1" "94568675" "94568675" "subst" "0.00146249" "01695" "ABCA4_000210" "g.94568675T>C" "159, 120956, 0, 0.001315" "{PMID:Valverde 2007:17325136}" "" "466A>G" "On its own not significantely found more often in published STGD compared to ExAC (p-value 0.50). However, together with other non-significant variants published related to STGD, they are significantly more often in STGD patients (p-value <0.01)." "Germline" "-" "" "0" "" "" "g.94103119T>C" "" "VUS" ""
"0000121989" "0" "30" "1" "94476936" "94476936" "subst" "0" "01695" "ABCA4_000435" "g.94476936C>T" "" "{PMID:Valverde 2007:17325136}" "" "G5466A" "" "Germline" "?" "" "0" "" "" "g.94011380C>T" "" "likely benign" ""
"0000121990" "0" "50" "1" "94512565" "94512565" "subst" "0.030364" "01695" "ABCA4_000002" "g.94512565C>T" "3722, 121196, 87, 0.03071" "{PMID:Valverde 2007:17325136}" "" "2828G>A" "" "Germline" "-" "" "0" "" "" "g.94047009C>T" "" "VUS" ""
"0000121991" "0" "50" "1" "94514466" "94514466" "subst" "0.00192081" "01695" "ABCA4_000008" "g.94514466T>C" "212, 121284, 0, 0.001748" "{PMID:Valverde 2007:17325136}" "" "2701A>G" "" "Germline" "-" "" "0" "" "" "g.94048910T>C" "" "VUS" ""
"0000121992" "0" "90" "1" "94506838" "94506840" "del" "0" "01695" "ABCA4_000615" "g.94506838_94506840del" "" "{PMID:Beit-Ya\'acov 2007:17724221}" "" "p.Cys1150del" "" "Germline" "-" "" "0" "" "" "g.94041282_94041284del" "" "pathogenic" ""
"0000121993" "0" "90" "1" "94496097" "94496119" "del" "0" "01695" "ABCA4_000557" "g.94496097_94496119del" "" "{PMID:Beit-Ya\'acov 2007:17724221}" "" "c.4254-15del23" "" "Germline" "?" "" "0" "" "" "g.94030541_94030563del" "" "pathogenic" ""
"0000121994" "3" "90" "1" "94496097" "94496119" "del" "0" "01695" "ABCA4_000557" "g.94496097_94496119del" "" "{PMID:Beit-Ya\'acov 2007:17724221}" "" "c.4254-15del23" "" "Germline" "?" "" "0" "" "" "g.94030541_94030563del" "" "pathogenic" ""
"0000121995" "3" "90" "1" "94496097" "94496119" "del" "0" "01695" "ABCA4_000557" "g.94496097_94496119del" "" "{PMID:Beit-Ya\'acov 2007:17724221}" "" "4254-15del23" "" "Germline" "yes" "" "0" "" "" "g.94030541_94030563del" "" "pathogenic" ""
"0000121996" "3" "90" "1" "94496097" "94496119" "del" "0" "01695" "ABCA4_000557" "g.94496097_94496119del" "" "{PMID:Beit-Ya\'acov 2007:17724221}" "" "c.4254-15del23" "" "Germline" "?" "" "0" "" "" "g.94030541_94030563del" "" "pathogenic" ""
"0000121997" "3" "90" "1" "94496097" "94496119" "del" "0" "01695" "ABCA4_000557" "g.94496097_94496119del" "" "{PMID:Beit-Ya\'acov 2007:17724221}" "" "c.4254-15del23" "" "Germline" "?" "" "0" "" "" "g.94030541_94030563del" "" "pathogenic" ""
"0000121998" "3" "90" "1" "94496097" "94496119" "del" "0" "01695" "ABCA4_000557" "g.94496097_94496119del" "" "{PMID:Beit-Ya\'acov 2007:17724221}" "" "c.4254-15del23" "" "Germline" "?" "" "0" "" "" "g.94030541_94030563del" "" "pathogenic" ""
"0000121999" "3" "90" "1" "94496097" "94496119" "del" "0" "01695" "ABCA4_000557" "g.94496097_94496119del" "" "{PMID:Beit-Ya\'acov 2007:17724221}" "" "c.4254-15del23" "" "Germline" "?" "" "0" "" "" "g.94030541_94030563del" "" "pathogenic" ""
"0000122000" "3" "90" "1" "94496097" "94496119" "del" "0" "01695" "ABCA4_000557" "g.94496097_94496119del" "" "{PMID:Beit-Ya\'acov 2007:17724221}" "" "c.4254-15del23" "" "Germline" "?" "" "0" "" "" "g.94030541_94030563del" "" "pathogenic" ""
"0000122001" "3" "90" "1" "94496097" "94496119" "del" "0" "01695" "ABCA4_000557" "g.94496097_94496119del" "" "{PMID:Beit-Ya\'acov 2007:17724221}" "" "c.4254-15del23" "" "Germline" "?" "" "0" "" "" "g.94030541_94030563del" "" "pathogenic" ""
"0000122002" "3" "90" "1" "94496097" "94496119" "del" "0" "01695" "ABCA4_000557" "g.94496097_94496119del" "" "{PMID:Beit-Ya\'acov 2007:17724221}" "" "c.4254-15del23" "" "Germline" "?" "" "0" "" "" "g.94030541_94030563del" "" "pathogenic" ""
"0000122003" "3" "90" "1" "94496097" "94496119" "del" "0" "01695" "ABCA4_000557" "g.94496097_94496119del" "" "{PMID:Beit-Ya\'acov 2007:17724221}" "" "c.4254-15del23" "" "Germline" "?" "" "0" "" "" "g.94030541_94030563del" "" "pathogenic" ""
"0000122004" "3" "90" "1" "94496097" "94496119" "del" "0" "01695" "ABCA4_000557" "g.94496097_94496119del" "" "{PMID:Beit-Ya\'acov 2007:17724221}" "" "c.4254-15del23" "" "Germline" "?" "" "0" "" "" "g.94030541_94030563del" "" "pathogenic" ""
"0000122005" "3" "90" "1" "94496097" "94496119" "del" "0" "01695" "ABCA4_000557" "g.94496097_94496119del" "" "{PMID:Beit-Ya\'acov 2007:17724221}" "" "c.4254-15del23" "" "Germline" "?" "" "0" "" "" "g.94030541_94030563del" "" "pathogenic" ""
"0000122006" "3" "90" "1" "94496097" "94496119" "del" "0" "01695" "ABCA4_000557" "g.94496097_94496119del" "" "{PMID:Beit-Ya\'acov 2007:17724221}" "" "c.4254-15del23" "" "Germline" "?" "" "0" "" "" "g.94030541_94030563del" "" "pathogenic" ""
"0000122007" "3" "90" "1" "94496097" "94496119" "del" "0" "01695" "ABCA4_000557" "g.94496097_94496119del" "" "{PMID:Beit-Ya\'acov 2007:17724221}" "" "c.4254-15del23" "" "Germline" "?" "" "0" "" "" "g.94030541_94030563del" "" "pathogenic" ""
"0000122008" "21" "90" "1" "94480232" "94480232" "subst" "0" "01695" "ABCA4_000444" "g.94480232G>A" "" "{PMID:Yzer 2007:17893657}" "" "c.5327C>T" "" "Germline" "-" "" "0" "" "" "g.94014676G>A" "" "pathogenic" ""
"0000122009" "10" "70" "1" "94505685" "94505685" "subst" "0" "01695" "ABCA4_000611" "g.94505685T>A" "" "{PMID:Yzer 2007:17893657}" "" "c.3523-2A>T" "" "Germline" "yes" "" "0" "" "" "g.94040129T>A" "" "likely pathogenic" ""
"0000122010" "21" "90" "1" "94480232" "94480232" "subst" "0" "01695" "ABCA4_000444" "g.94480232G>A" "" "{PMID:Yzer 2007:17893657}" "" "c.5327C>T" "" "Germline" "-" "" "0" "" "" "g.94014676G>A" "" "pathogenic" ""
"0000122011" "10" "70" "1" "94505685" "94505685" "subst" "0" "01695" "ABCA4_000611" "g.94505685T>A" "" "{PMID:Yzer 2007:17893657}" "" "c.3523-2A>T" "" "Germline" "yes" "" "0" "" "" "g.94040129T>A" "" "likely pathogenic" ""
"0000122012" "21" "90" "1" "94480232" "94480232" "subst" "0" "01695" "ABCA4_000444" "g.94480232G>A" "" "{PMID:Yzer 2007:17893657}" "" "c.5327C>T" "" "Germline" "-" "" "0" "" "" "g.94014676G>A" "" "pathogenic" ""
"0000122013" "10" "70" "1" "94505685" "94505685" "subst" "0" "01695" "ABCA4_000611" "g.94505685T>A" "" "{PMID:Yzer 2007:17893657}" "" "c.3523-2A>T" "" "Germline" "yes" "" "0" "" "" "g.94040129T>A" "" "likely pathogenic" ""
"0000122014" "10" "90" "1" "94546265" "94546265" "subst" "2.04063E-5" "01695" "ABCA4_000355" "g.94546265G>A" "4, 120876, 0, 0.00003309" "{PMID:Yzer 2007:17893657}" "" "c.868C>T" "" "Germline" "-" "" "0" "" "" "g.94080709G>A" "" "pathogenic" ""
"0000122015" "20" "70" "1" "94505685" "94505685" "subst" "0" "01695" "ABCA4_000611" "g.94505685T>A" "" "{PMID:Yzer 2007:17893657}" "" "c.3523-2A>T" "" "Germline" "yes" "" "0" "" "" "g.94040129T>A" "" "likely pathogenic" ""
"0000122016" "0" "50" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "21, 121302, 0, 0.0001731" "{PMID:Rosenberg 2007:17982420}" "" "N965S" "" "Germline" "-" "" "0" "" "" "g.94046943T>C" "" "VUS" ""
"0000122017" "0" "70" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "13, 121216, 0, 0.0001072" "{PMID:Rosenberg 2007:17982420}" "" "V256V" "" "Germline" "?" "" "0" "" "" "g.94098794C>A" "" "likely pathogenic" ""
"0000122018" "0" "70" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "21, 121302, 0, 0.0001731" "{PMID:Rosenberg 2007:17982420}" "" "N965S" "" "Germline" "-" "" "0" "" "" "g.94046943T>C" "" "likely pathogenic" ""
"0000122019" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Rosenberg 2007:17982420}" "" "L541P/A1038" "" "Germline" "?" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000122020" "1" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Rosenberg 2007:17982420}" "" "L541P/A1038" "" "Germline" "?" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic" ""
"0000122021" "0" "90" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "21, 121302, 0, 0.0001731" "{PMID:Rosenberg 2007:17982420}" "" "N965S" "" "Germline" "-" "" "0" "" "" "g.94046943T>C" "" "pathogenic" ""
"0000122022" "0" "70" "1" "94526212" "94526212" "subst" "1.22012E-5" "01695" "ABCA4_000075" "g.94526212G>A" "3, 120836, 0, 0.00002483" "{PMID:Rosenberg 2007:17982420}" "" "R681X" "" "Germline" "?" "" "0" "" "" "g.94060656G>A" "" "likely pathogenic" ""
"0000122023" "0" "90" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "21, 121302, 0, 0.0001731" "{PMID:Rosenberg 2007:17982420}" "" "N965S" "" "Germline" "-" "" "0" "" "" "g.94046943T>C" "" "pathogenic" ""
"0000122024" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Rosenberg 2007:17982420}" "" "c.2588G>C" "" "Germline" "?" "rs76157638" "0" "" "" "g.94051698C>G" "" "likely pathogenic" ""
"0000122025" "0" "90" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "21, 121302, 0, 0.0001731" "{PMID:Rosenberg 2007:17982420}" "" "N965S" "" "Germline" "-" "" "0" "" "" "g.94046943T>C" "" "pathogenic" ""
"0000122026" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Rosenberg 2007:17982420}" "" "c.2588G>C" "" "Germline" "?" "rs76157638" "0" "" "" "g.94051698C>G" "" "likely pathogenic" ""
"0000122027" "0" "90" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "21, 121302, 0, 0.0001731" "{PMID:Rosenberg 2007:17982420}" "" "N965S" "" "Germline" "-" "" "0" "" "" "g.94046943T>C" "" "pathogenic" ""
"0000122028" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Rosenberg 2007:17982420}" "" "c.2588G>C" "" "Germline" "?" "rs76157638" "0" "" "" "g.94051698C>G" "" "likely pathogenic" ""
"0000122029" "0" "90" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "21, 121302, 0, 0.0001731" "{PMID:Rosenberg 2007:17982420}" "" "N965S" "" "Germline" "-" "" "0" "" "" "g.94046943T>C" "" "pathogenic" ""
"0000122030" "1" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Rosenberg 2007:17982420}" "" "c.2588G>C/R219T" "" "Germline" "?" "rs76157638" "0" "" "" "g.94051698C>G" "" "likely pathogenic" ""
"0000122031" "1" "50" "1" "94564462" "94564462" "subst" "4.06775E-5" "01695" "ABCA4_000380" "g.94564462C>G" "" "{PMID:Rosenberg 2007:17982420}" "" "c.2588G>C/R219T" "" "Germline" "?" "" "0" "" "" "g.94098906C>G" "" "VUS" ""
"0000122032" "3" "70" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "21, 121302, 0, 0.0001731" "{PMID:Rosenberg 2007:17982420}" "" "N965S" "" "Germline" "?" "" "0" "" "" "g.94046943T>C" "" "likely pathogenic" ""
"0000122033" "0" "70" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "21, 121302, 0, 0.0001731" "{PMID:Rosenberg 2007:17982420}" "" "N965S" "" "Germline" "-" "" "0" "" "" "g.94046943T>C" "" "likely pathogenic" ""
"0000122034" "0" "70" "1" "94508386" "94508386" "subst" "1.62443E-5" "01695" "ABCA4_000642" "g.94508386C>T" "4, 121376, 0, 0.00003296" "{PMID:Rosenberg 2007:17982420}" "" "E1087K/R1898H" "" "Germline" "?" "" "0" "" "" "g.94042830C>T" "" "likely pathogenic" ""
"0000122035" "0" "70" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "21, 121302, 0, 0.0001731" "{PMID:Rosenberg 2007:17982420}" "" "N965S" "" "Germline" "-" "" "0" "" "" "g.94046943T>C" "" "likely pathogenic" ""
"0000122036" "0" "70" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "14, 121282, 0, 0.0001154" "{PMID:Rosenberg 2007:17982420}" "" "R1108C" "" "Germline" "?" "" "0" "" "" "g.94042767G>A" "" "likely pathogenic" ""
"0000122037" "0" "70" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "21, 121302, 0, 0.0001731" "{PMID:Rosenberg 2007:17982420}" "" "N965S" "" "Germline" "-" "" "0" "" "" "g.94046943T>C" "" "likely pathogenic" ""
"0000122038" "0" "70" "1" "94496589" "94496589" "subst" "0" "01695" "ABCA4_000568" "g.94496589G>A" "" "{PMID:Rosenberg 2007:17982420}" "" "H1406Y" "" "Germline" "?" "" "0" "" "" "g.94031033G>A" "" "likely pathogenic" ""
"0000122039" "0" "70" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "21, 121302, 0, 0.0001731" "{PMID:Rosenberg 2007:17982420}" "" "N965S" "" "Germline" "-" "" "0" "" "" "g.94046943T>C" "" "likely pathogenic" ""
"0000122040" "0" "70" "1" "94486815" "94486815" "subst" "0" "01695" "ABCA4_000480" "g.94486815G>T" "1, 121412, 0, 0.000008236" "{PMID:Rosenberg 2007:17982420}" "" "Q1667K" "" "Germline" "?" "" "0" "" "" "g.94021259G>T" "" "likely pathogenic" ""
"0000122041" "0" "50" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "21, 121302, 0, 0.0001731" "{PMID:Rosenberg 2007:17982420}" "" "N965S" "found no variant 2nd chromosome" "Germline" "-" "" "0" "" "" "g.94046943T>C" "" "VUS" ""
"0000122042" "0" "50" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "21, 121302, 0, 0.0001731" "{PMID:Rosenberg 2007:17982420}" "" "N965S" "found no variant 2nd chromosome" "Germline" "-" "" "0" "" "" "g.94046943T>C" "" "VUS" ""
"0000122043" "0" "50" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "21, 121302, 0, 0.0001731" "{PMID:Rosenberg 2007:17982420}" "" "N965S" "found no variant 2nd chromosome" "Germline" "-" "" "0" "" "" "g.94046943T>C" "" "VUS" ""
"0000122044" "0" "50" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "21, 121302, 0, 0.0001731" "{PMID:Rosenberg 2007:17982420}" "" "N965S" "found no variant 2nd chromosome" "Germline" "-" "" "0" "" "" "g.94046943T>C" "" "VUS" ""
"0000122045" "0" "50" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "21, 121302, 0, 0.0001731" "{PMID:Rosenberg 2007:17982420}" "" "N965S" "found no variant 2nd chromosome" "Germline" "-" "" "0" "" "" "g.94046943T>C" "" "VUS" ""
"0000122046" "0" "90" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "21, 121302, 0, 0.0001731" "{PMID:Rosenberg 2007:17982420}" "" "N965S" "" "Germline" "-" "" "0" "" "" "g.94046943T>C" "" "pathogenic" ""
"0000122047" "0" "70" "1" "94526212" "94526212" "subst" "1.22012E-5" "01695" "ABCA4_000075" "g.94526212G>A" "3, 120836, 0, 0.00002483" "{PMID:Rosenberg 2007:17982420}" "" "R681X" "" "Germline" "?" "" "0" "" "" "g.94060656G>A" "" "likely pathogenic" ""
"0000122048" "0" "70" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "21, 121302, 0, 0.0001731" "{PMID:Rosenberg 2007:17982420}" "" "N965S" "" "Germline" "-" "" "0" "" "" "g.94046943T>C" "" "likely pathogenic" ""
"0000122049" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Rosenberg 2007:17982420}" "" "L541P/A1038V" "" "Germline" "?" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000122050" "1" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Rosenberg 2007:17982420}" "" "L541P/A1038V" "" "Germline" "?" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic" ""
"0000122051" "0" "90" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "21, 121302, 0, 0.0001731" "{PMID:Rosenberg 2007:17982420}" "" "N965S" "" "Germline" "-" "" "0" "" "" "g.94046943T>C" "" "pathogenic" ""
"0000122052" "0" "70" "1" "94526212" "94526212" "subst" "1.22012E-5" "01695" "ABCA4_000075" "g.94526212G>A" "3, 120836, 0, 0.00002483" "{PMID:Rosenberg 2007:17982420}" "" "R681X" "" "Germline" "?" "" "0" "" "" "g.94060656G>A" "" "likely pathogenic" ""
"0000122053" "3" "70" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "21, 121302, 0, 0.0001731" "{PMID:Rosenberg 2007:17982420}" "" "N965S" "" "Germline" "?" "" "0" "" "" "g.94046943T>C" "" "likely pathogenic" ""
"0000122054" "0" "50" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "21, 121302, 0, 0.0001731" "{PMID:Rosenberg 2007:17982420}" "" "N965S" "" "Germline" "-" "" "0" "" "" "g.94046943T>C" "" "VUS" ""
"0000122055" "0" "70" "1" "94476495" "94476495" "subst" "0" "01695" "ABCA4_000424" "g.94476495A>G" "" "{PMID:Rosenberg 2007:17982420}" "" "c.5585-10T>C" "" "Germline" "?" "" "0" "" "" "g.94010939A>G" "" "likely pathogenic" ""
"0000122056" "0" "50" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "21, 121302, 0, 0.0001731" "{PMID:Rosenberg 2007:17982420}" "" "N965S" "" "Germline" "-" "" "0" "" "" "g.94046943T>C" "" "VUS" ""
"0000122057" "0" "70" "1" "94476812" "94476812" "subst" "0" "01695" "ABCA4_000048" "g.94476812A>G" "" "{PMID:Rosenberg 2007:17982420}" "" "c.5584+6T>C" "" "Germline" "?" "" "0" "" "" "g.94011256A>G" "" "likely pathogenic" ""
"0000122058" "0" "90" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "21, 121302, 0, 0.0001731" "{PMID:Rosenberg 2007:17982420}" "" "N965S" "" "Germline" "-" "" "0" "" "" "g.94046943T>C" "" "pathogenic" ""
"0000122059" "0" "70" "1" "94496571" "94496571" "subst" "4.06174E-6" "01695" "ABCA4_000111" "g.94496571G>A" "" "{PMID:Rosenberg 2007:17982420}" "" "Q1412X" "" "Germline" "?" "" "0" "" "" "g.94031015G>A" "" "likely pathogenic" ""
"0000122060" "0" "50" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "21, 121302, 0, 0.0001731" "{PMID:Rosenberg 2007:17982420}" "" "N965S" "found no variant 2nd chromosome" "Germline" "-" "" "0" "" "" "g.94046943T>C" "" "VUS" ""
"0000122061" "0" "50" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "21, 121302, 0, 0.0001731" "{PMID:Rosenberg 2007:17982420}" "" "N965S" "found no variant 2nd chromosome" "Germline" "-" "" "0" "" "" "g.94046943T>C" "" "VUS" ""
"0000122062" "3" "70" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "21, 121302, 0, 0.0001731" "{PMID:Rosenberg 2007:17982420}" "" "N965S" "" "Germline" "?" "" "0" "" "" "g.94046943T>C" "" "likely pathogenic" ""
"0000122063" "3" "70" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "21, 121302, 0, 0.0001731" "{PMID:Rosenberg 2007:17982420}" "" "N965S" "" "Germline" "?" "" "0" "" "" "g.94046943T>C" "" "likely pathogenic" ""
"0000122064" "0" "50" "1" "94577102" "94577102" "subst" "4.06161E-6" "01695" "ABCA4_000033" "g.94577102C>T" "" "{PMID:Rosenberg 2007:17982420}" "" "c.194G>A" "" "Germline" "-" "" "0" "" "" "g.94111546C>T" "" "VUS" ""
"0000122065" "0" "50" "1" "94577093" "94577093" "subst" "8.12394E-6" "01695" "ABCA4_000147" "g.94577093G>A" "2, 121276, 0, 0.00001649" "{PMID:Rosenberg 2007:17982420}" "" "c.203C>T" "" "Germline" "-" "" "0" "" "" "g.94111537G>A" "" "VUS" ""
"0000122066" "0" "50" "1" "94577082" "94577082" "subst" "2.84315E-5" "01695" "ABCA4_000232" "g.94577082C>T" "3, 121252, 0, 0.00002474" "{PMID:Rosenberg 2007:17982420}" "" "c.214G>A" "" "Germline" "-" "" "0" "" "" "g.94111526C>T" "" "VUS" ""
"0000122067" "0" "50" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "14, 120056, 0, 0.0001166" "{PMID:Rosenberg 2007:17982420}" "" "c.634C>T" "" "Germline" "-" "" "0" "" "" "g.94098928G>A" "" "VUS" ""
"0000122068" "0" "50" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "14, 120056, 0, 0.0001166" "{PMID:Rosenberg 2007:17982420}" "" "c.634C>T" "" "Germline" "-" "" "0" "" "" "g.94098928G>A" "" "VUS" ""
"0000122069" "0" "50" "1" "94564462" "94564462" "subst" "4.06775E-5" "01695" "ABCA4_000380" "g.94564462C>G" "5, 120978, 0, 0.00004133" "{PMID:Rosenberg 2007:17982420}" "" "c.656G>C" "" "Germline" "-" "" "0" "" "" "g.94098906C>G" "" "VUS" ""
"0000122070" "0" "50" "1" "94564462" "94564462" "subst" "4.06775E-5" "01695" "ABCA4_000380" "g.94564462C>G" "5, 120978, 0, 0.00004133" "{PMID:Rosenberg 2007:17982420}" "" "c.656G>C" "" "Germline" "-" "" "0" "" "" "g.94098906C>G" "" "VUS" ""
"0000122071" "0" "50" "1" "94564442" "94564454" "del" "0" "01695" "ABCA4_000377" "g.94564442_94564454del" "" "{PMID:Rosenberg 2007:17982420}" "" "c.666del13" "" "Germline" "-" "" "0" "" "" "g.94098886_94098898del" "" "VUS" ""
"0000122072" "0" "50" "1" "94564442" "94564454" "del" "0" "01695" "ABCA4_000377" "g.94564442_94564454del" "" "{PMID:Rosenberg 2007:17982420}" "" "c.666del13" "" "Germline" "-" "" "0" "" "" "g.94098886_94098898del" "" "VUS" ""
"0000122073" "0" "50" "1" "94564442" "94564454" "del" "0" "01695" "ABCA4_000377" "g.94564442_94564454del" "" "{PMID:Rosenberg 2007:17982420}" "" "c.666del13" "" "Germline" "-" "" "0" "" "" "g.94098886_94098898del" "" "VUS" ""
"0000122074" "0" "50" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "13, 121216, 0, 0.0001072" "{PMID:Rosenberg 2007:17982420}" "" "c.768G>T" "" "Germline" "-" "" "0" "" "" "g.94098794C>A" "" "VUS" ""
"0000122075" "0" "50" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "13, 121216, 0, 0.0001072" "{PMID:Rosenberg 2007:17982420}" "" "c.768G>T" "" "Germline" "-" "" "0" "" "" "g.94098794C>A" "" "VUS" ""
"0000122076" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Rosenberg 2007:17982420}" "" "L541P/A1038" "" "Germline" "-" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000122077" "1" "50" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Rosenberg 2007:17982420}" "" "L541P/A1038" "" "Germline" "-" "" "0" "" "" "g.94043413G>A" "" "VUS" ""
"0000122078" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Rosenberg 2007:17982420}" "" "L541P/A1038" "" "Germline" "-" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000122079" "1" "50" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Rosenberg 2007:17982420}" "" "L541P/A1038" "" "Germline" "-" "" "0" "" "" "g.94043413G>A" "" "VUS" ""
"0000122080" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Rosenberg 2007:17982420}" "" "L541P/A1038" "" "Germline" "-" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000122081" "1" "50" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Rosenberg 2007:17982420}" "" "L541P/A1038" "" "Germline" "-" "" "0" "" "" "g.94043413G>A" "" "VUS" ""
"0000122082" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Rosenberg 2007:17982420}" "" "L541P/A1038" "" "Germline" "-" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000122083" "1" "50" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Rosenberg 2007:17982420}" "" "L541P/A1038" "" "Germline" "-" "" "0" "" "" "g.94043413G>A" "" "VUS" ""
"0000122084" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Rosenberg 2007:17982420}" "" "L541P/A1038" "" "Germline" "-" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000122085" "1" "50" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Rosenberg 2007:17982420}" "" "L541P/A1038" "" "Germline" "-" "" "0" "" "" "g.94043413G>A" "" "VUS" ""
"0000122086" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Rosenberg 2007:17982420}" "" "L541P/A1038" "" "Germline" "-" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000122087" "1" "50" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Rosenberg 2007:17982420}" "" "L541P/A1038" "" "Germline" "-" "" "0" "" "" "g.94043413G>A" "" "VUS" ""
"0000122088" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Rosenberg 2007:17982420}" "" "L541P/A1038" "" "Germline" "-" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000122089" "1" "50" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Rosenberg 2007:17982420}" "" "L541P/A1038" "" "Germline" "-" "" "0" "" "" "g.94043413G>A" "" "VUS" ""
"0000122090" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Rosenberg 2007:17982420}" "" "L541P/A1038" "" "Germline" "-" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000122091" "1" "50" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Rosenberg 2007:17982420}" "" "L541P/A1038" "" "Germline" "-" "" "0" "" "" "g.94043413G>A" "" "VUS" ""
"0000122092" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Rosenberg 2007:17982420}" "" "L541P/A1038" "" "Germline" "-" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000122093" "1" "50" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Rosenberg 2007:17982420}" "" "L541P/A1038" "" "Germline" "-" "" "0" "" "" "g.94043413G>A" "" "VUS" ""
"0000122094" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Rosenberg 2007:17982420}" "" "L541P/A1038" "" "Germline" "-" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000122095" "1" "50" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Rosenberg 2007:17982420}" "" "L541P/A1038" "" "Germline" "-" "" "0" "" "" "g.94043413G>A" "" "VUS" ""
"0000122096" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Rosenberg 2007:17982420}" "" "L541P/A1038" "" "Germline" "-" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000122097" "1" "50" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Rosenberg 2007:17982420}" "" "L541P/A1038" "" "Germline" "-" "" "0" "" "" "g.94043413G>A" "" "VUS" ""
"0000122098" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Rosenberg 2007:17982420}" "" "L541P/A1038" "" "Germline" "-" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000122099" "1" "50" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Rosenberg 2007:17982420}" "" "L541P/A1038" "" "Germline" "-" "" "0" "" "" "g.94043413G>A" "" "VUS" ""
"0000122100" "0" "50" "1" "94528132" "94528132" "subst" "4.06835E-6" "01695" "ABCA4_000773" "g.94528132C>T" "1, 120972, 0, 0.000008266" "{PMID:Rosenberg 2007:17982420}" "" "c.1937+1G>A" "" "Germline" "-" "" "0" "" "" "g.94062576C>T" "" "VUS" ""
"0000122101" "0" "70" "1" "94528780" "94528780" "subst" "4.06171E-6" "01695" "ABCA4_000299" "g.94528780C>T" "1, 121410, 0, 0.000008237" "{PMID:Rosenberg 2007:17982420}" "" "c.1648G>A" "" "Germline" "-" "" "0" "" "" "g.94063224C>T" "" "likely pathogenic" ""
"0000122102" "0" "90" "1" "94528251" "94528251" "subst" "2.84824E-5" "01695" "ABCA4_000281" "g.94528251C>T" "3, 119908, 0, 0.00002502" "{PMID:Rosenberg 2007:17982420}" "" "c.1819G>A" "" "Germline" "-" "" "0" "" "" "g.94062695C>T" "" "pathogenic" ""
"0000122103" "0" "90" "1" "94528251" "94528251" "subst" "2.84824E-5" "01695" "ABCA4_000281" "g.94528251C>T" "3, 119908, 0, 0.00002502" "{PMID:Rosenberg 2007:17982420}" "" "c.1819G>A" "" "Germline" "-" "" "0" "" "" "g.94062695C>T" "" "pathogenic" ""
"0000122104" "0" "50" "1" "94528248" "94528248" "subst" "1.22148E-5" "01695" "ABCA4_000279" "g.94528248A>T" "1, 119894, 0, 0.000008341" "{PMID:Rosenberg 2007:17982420}" "" "c.1822T>A" "" "Germline" "-" "" "0" "" "" "g.94062692A>T" "" "VUS" ""
"0000122105" "0" "50" "1" "94528248" "94528248" "subst" "0" "01695" "ABCA4_000280" "g.94528248A>G" "" "{PMID:Rosenberg 2007:17982420}" "" "c.1822T>C" "" "Germline" "-" "" "0" "" "" "g.94062692A>G" "" "VUS" ""
"0000122106" "0" "50" "1" "94528142" "94528142" "subst" "0.00153303" "01695" "ABCA4_000125" "g.94528142A>C" "163, 121098, 1, 0.001346" "{PMID:Rosenberg 2007:17982420}" "" "c.1928T>G" "" "Germline" "-" "" "0" "" "" "g.94062586A>C" "" "VUS" ""
"0000122107" "0" "50" "1" "94526296" "94526296" "subst" "1.64555E-5" "01695" "ABCA4_000768" "g.94526296G>A" "1, 96614, 0, 0.00001035" "{PMID:Rosenberg 2007:17982420}" "" "c.1957C>T" "" "Germline" "-" "" "0" "" "" "g.94060740G>A" "" "VUS" ""
"0000122108" "0" "50" "1" "94522239" "94522239" "subst" "2.03305E-5" "01695" "ABCA4_000736" "g.94522239A>T" "1, 119332, 0, 0.00000838" "{PMID:Rosenberg 2007:17982420}" "" "c.2300T>A" "" "Germline" "-" "" "0" "" "" "g.94056683A>T" "" "VUS" ""
"0000122109" "0" "50" "1" "94520690" "94520690" "subst" "2.03102E-5" "01695" "ABCA4_000149" "g.94520690C>T" "4, 121342, 0, 0.00003296" "{PMID:Rosenberg 2007:17982420}" "" "c.2564G>A" "" "Germline" "-" "" "0" "" "" "g.94055134C>T" "" "VUS" ""
"0000122110" "0" "50" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Rosenberg 2007:17982420}" "" "c.2588G>C" "" "Germline" "-" "rs76157638" "0" "" "" "g.94051698C>G" "" "VUS" ""
"0000122111" "0" "50" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Rosenberg 2007:17982420}" "" "c.2588G>C" "" "Germline" "-" "rs76157638" "0" "" "" "g.94051698C>G" "" "VUS" ""
"0000122112" "0" "50" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Rosenberg 2007:17982420}" "" "c.2588G>C" "" "Germline" "-" "rs76157638" "0" "" "" "g.94051698C>G" "" "VUS" ""
"0000122113" "0" "50" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Rosenberg 2007:17982420}" "" "c.2588G>C" "" "Germline" "-" "rs76157638" "0" "" "" "g.94051698C>G" "" "VUS" ""
"0000122114" "0" "50" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Rosenberg 2007:17982420}" "" "c.2588G>C" "" "Germline" "-" "rs76157638" "0" "" "" "g.94051698C>G" "" "VUS" ""
"0000122115" "0" "50" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Rosenberg 2007:17982420}" "" "c.2588G>C" "" "Germline" "-" "rs76157638" "0" "" "" "g.94051698C>G" "" "VUS" ""
"0000122116" "0" "50" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Rosenberg 2007:17982420}" "" "c.2588G>C" "" "Germline" "-" "rs76157638" "0" "" "" "g.94051698C>G" "" "VUS" ""
"0000122117" "0" "50" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Rosenberg 2007:17982420}" "" "c.2588G>C" "" "Germline" "-" "rs76157638" "0" "" "" "g.94051698C>G" "" "VUS" ""
"0000122118" "0" "50" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Rosenberg 2007:17982420}" "" "c.2588G>C" "" "Germline" "-" "rs76157638" "0" "" "" "g.94051698C>G" "" "VUS" ""
"0000122119" "0" "50" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Rosenberg 2007:17982420}" "" "c.2588G>C" "" "Germline" "-" "rs76157638" "0" "" "" "g.94051698C>G" "" "VUS" ""
"0000122120" "0" "50" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Rosenberg 2007:17982420}" "" "c.2588G>C" "" "Germline" "-" "rs76157638" "0" "" "" "g.94051698C>G" "" "VUS" ""
"0000122121" "0" "50" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Rosenberg 2007:17982420}" "" "c.2588G>C" "" "Germline" "-" "rs76157638" "0" "" "" "g.94051698C>G" "" "VUS" ""
"0000122122" "0" "50" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Rosenberg 2007:17982420}" "" "c.2588G>C" "" "Germline" "-" "rs76157638" "0" "" "" "g.94051698C>G" "" "VUS" ""
"0000122123" "0" "50" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Rosenberg 2007:17982420}" "" "c.2588G>C" "" "Germline" "-" "rs76157638" "0" "" "" "g.94051698C>G" "" "VUS" ""
"0000122124" "0" "50" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Rosenberg 2007:17982420}" "" "c.2588G>C" "" "Germline" "-" "rs76157638" "0" "" "" "g.94051698C>G" "" "VUS" ""
"0000122125" "0" "50" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Rosenberg 2007:17982420}" "" "c.2588G>C" "" "Germline" "-" "rs76157638" "0" "" "" "g.94051698C>G" "" "VUS" ""
"0000122126" "0" "50" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Rosenberg 2007:17982420}" "" "c.2588G>C" "" "Germline" "-" "rs76157638" "0" "" "" "g.94051698C>G" "" "VUS" ""
"0000122127" "0" "50" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Rosenberg 2007:17982420}" "" "c.2588G>C" "" "Germline" "-" "rs76157638" "0" "" "" "g.94051698C>G" "" "VUS" ""
"0000122128" "0" "50" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Rosenberg 2007:17982420}" "" "c.2588G>C" "" "Germline" "-" "rs76157638" "0" "" "" "g.94051698C>G" "" "VUS" ""
"0000122129" "0" "50" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Rosenberg 2007:17982420}" "" "c.2588G>C" "" "Germline" "-" "rs76157638" "0" "" "" "g.94051698C>G" "" "VUS" ""
"0000122130" "0" "50" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Rosenberg 2007:17982420}" "" "c.2588G>C" "" "Germline" "-" "rs76157638" "0" "" "" "g.94051698C>G" "" "VUS" ""
"0000122131" "0" "50" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Rosenberg 2007:17982420}" "" "c.2588G>C" "" "Germline" "-" "rs76157638" "0" "" "" "g.94051698C>G" "" "VUS" ""
"0000122132" "0" "50" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Rosenberg 2007:17982420}" "" "c.2588G>C" "" "Germline" "-" "rs76157638" "0" "" "" "g.94051698C>G" "" "VUS" ""
"0000122133" "0" "50" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Rosenberg 2007:17982420}" "" "c.2588G>C" "" "Germline" "-" "rs76157638" "0" "" "" "g.94051698C>G" "" "VUS" ""
"0000122134" "0" "50" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Rosenberg 2007:17982420}" "" "c.2588G>C" "" "Germline" "-" "rs76157638" "0" "" "" "g.94051698C>G" "" "VUS" ""
"0000122135" "0" "50" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Rosenberg 2007:17982420}" "" "c.2588G>C" "" "Germline" "-" "rs76157638" "0" "" "" "g.94051698C>G" "" "VUS" ""
"0000122136" "0" "50" "1" "94514466" "94514466" "subst" "0.00192081" "01695" "ABCA4_000008" "g.94514466T>C" "212, 121284, 0, 0.001748" "{PMID:Rosenberg 2007:17982420}" "" "c.2701A>G" "" "Germline" "-" "" "0" "" "" "g.94048910T>C" "" "VUS" ""
"0000122137" "0" "50" "1" "94512478" "94512478" "subst" "3.65871E-5" "01695" "ABCA4_000678" "g.94512478G>T" "7, 121308, 0, 0.0000577" "{PMID:Rosenberg 2007:17982420}" "" "c.2915C>A" "" "Germline" "-" "" "0" "" "" "g.94046922G>T" "" "VUS" ""
"0000122138" "0" "50" "1" "94512478" "94512478" "subst" "3.65871E-5" "01695" "ABCA4_000678" "g.94512478G>T" "7, 121308, 0, 0.0000577" "{PMID:Rosenberg 2007:17982420}" "" "c.2915C>A" "" "Germline" "-" "" "0" "" "" "g.94046922G>T" "" "VUS" ""
"0000122139" "0" "50" "1" "94509026" "94509026" "subst" "4.06497E-5" "01695" "ABCA4_000660" "g.94509026G>A" "5, 120988, 0, 0.00004133" "{PMID:Rosenberg 2007:17982420}" "" "c.3056T>C" "" "Germline" "-" "" "0" "" "" "g.94043470G>A" "" "VUS" ""
"0000122140" "0" "50" "1" "94509026" "94509026" "subst" "4.06497E-5" "01695" "ABCA4_000660" "g.94509026G>A" "5, 120988, 0, 0.00004133" "{PMID:Rosenberg 2007:17982420}" "" "c.3056T>C" "" "Germline" "-" "" "0" "" "" "g.94043470G>A" "" "VUS" ""
"0000122141" "0" "50" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "173, 121304, 0, 0.001426" "{PMID:Rosenberg 2007:17982420}" "" "c.3113C>T" "" "Germline" "-" "" "0" "" "" "g.94043413G>A" "" "VUS" ""
"0000122142" "0" "50" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "173, 121304, 0, 0.001426" "{PMID:Rosenberg 2007:17982420}" "" "c.3113C>T" "" "Germline" "-" "" "0" "" "" "g.94043413G>A" "" "VUS" ""
"0000122143" "0" "50" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "173, 121304, 0, 0.001426" "{PMID:Rosenberg 2007:17982420}" "" "c.3113C>T" "" "Germline" "-" "" "0" "" "" "g.94043413G>A" "" "VUS" ""
"0000122144" "0" "50" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "173, 121304, 0, 0.001426" "{PMID:Rosenberg 2007:17982420}" "" "c.3113C>T" "" "Germline" "-" "" "0" "" "" "g.94043413G>A" "" "VUS" ""
"0000122145" "0" "50" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "173, 121304, 0, 0.001426" "{PMID:Rosenberg 2007:17982420}" "" "c.3113C>T" "" "Germline" "-" "" "0" "" "" "g.94043413G>A" "" "VUS" ""
"0000122146" "0" "50" "1" "94506960" "94506960" "subst" "0" "01695" "ABCA4_000629" "g.94506960T>C" "" "{PMID:Rosenberg 2007:17982420}" "" "c.3329-2A>G" "" "Germline" "-" "" "0" "" "" "g.94041404T>C" "" "VUS" ""
"0000122147" "0" "50" "1" "94506960" "94506960" "subst" "0" "01695" "ABCA4_000629" "g.94506960T>C" "" "{PMID:Rosenberg 2007:17982420}" "" "c.3329-2A>G" "" "Germline" "-" "" "0" "" "" "g.94041404T>C" "" "VUS" ""
"0000122148" "0" "50" "1" "94506960" "94506960" "subst" "0" "01695" "ABCA4_000629" "g.94506960T>C" "" "{PMID:Rosenberg 2007:17982420}" "" "c.3329-2A>G" "" "Germline" "-" "" "0" "" "" "g.94041404T>C" "" "VUS" ""
"0000122149" "0" "50" "1" "94506960" "94506960" "subst" "0" "01695" "ABCA4_000629" "g.94506960T>C" "" "{PMID:Rosenberg 2007:17982420}" "" "c.3329-2A>G" "" "Germline" "-" "" "0" "" "" "g.94041404T>C" "" "VUS" ""
"0000122150" "0" "50" "1" "94506960" "94506960" "subst" "0" "01695" "ABCA4_000629" "g.94506960T>C" "" "{PMID:Rosenberg 2007:17982420}" "" "c.3329-2A>G" "" "Germline" "-" "" "0" "" "" "g.94041404T>C" "" "VUS" ""
"0000122151" "0" "50" "1" "94508353" "94508353" "subst" "2.8431E-5" "01695" "ABCA4_000141" "g.94508353G>A" "4, 121358, 0, 0.00003296" "{PMID:Rosenberg 2007:17982420}" "" "c.3292C>T" "" "Germline" "-" "" "0" "" "" "g.94042797G>A" "" "VUS" ""
"0000122152" "0" "50" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "14, 121282, 0, 0.0001154" "{PMID:Rosenberg 2007:17982420}" "" "c.3322C>T" "" "Germline" "-" "" "0" "" "" "g.94042767G>A" "" "VUS" ""
"0000122153" "0" "50" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "14, 121282, 0, 0.0001154" "{PMID:Rosenberg 2007:17982420}" "" "c.3322C>T" "" "Germline" "-" "" "0" "" "" "g.94042767G>A" "" "VUS" ""
"0000122154" "0" "50" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "14, 121282, 0, 0.0001154" "{PMID:Rosenberg 2007:17982420}" "" "c.3322C>T" "" "Germline" "-" "" "0" "" "" "g.94042767G>A" "" "VUS" ""
"0000122155" "0" "50" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "14, 121282, 0, 0.0001154" "{PMID:Rosenberg 2007:17982420}" "" "c.3322C>T" "" "Germline" "-" "" "0" "" "" "g.94042767G>A" "" "VUS" ""
"0000122156" "0" "50" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "14, 121282, 0, 0.0001154" "{PMID:Rosenberg 2007:17982420}" "" "c.3322C>T" "" "Germline" "-" "" "0" "" "" "g.94042767G>A" "" "VUS" ""
"0000122157" "0" "50" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "14, 121282, 0, 0.0001154" "{PMID:Rosenberg 2007:17982420}" "" "c.3322C>T" "" "Germline" "-" "" "0" "" "" "g.94042767G>A" "" "VUS" ""
"0000122158" "0" "50" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "14, 121282, 0, 0.0001154" "{PMID:Rosenberg 2007:17982420}" "" "c.3322C>T" "" "Germline" "-" "" "0" "" "" "g.94042767G>A" "" "VUS" ""
"0000122159" "0" "50" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "14, 121282, 0, 0.0001154" "{PMID:Rosenberg 2007:17982420}" "" "c.3322C>T" "" "Germline" "-" "" "0" "" "" "g.94042767G>A" "" "VUS" ""
"0000122160" "0" "50" "1" "94502756" "94502756" "subst" "0.000422575" "01695" "ABCA4_000032" "g.94502756G>A" "37, 121234, 1, 0.0003052" "{PMID:Rosenberg 2007:17982420}" "" "c.3758C>T" "" "Germline" "-" "" "0" "" "" "g.94037200G>A" "" "VUS" ""
"0000122161" "0" "50" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "24, 119274, 0, 0.0002012" "{PMID:Rosenberg 2007:17982420}" "" "c.4139C>T" "" "Germline" "-" "" "0" "" "" "g.94031110G>A" "" "VUS" ""
"0000122162" "0" "50" "1" "94496583" "94496583" "subst" "2.03092E-5" "01695" "ABCA4_000190" "g.94496583A>G" "1, 120898, 0, 0.000008271" "{PMID:Rosenberg 2007:17982420}" "" "c.4222T>C" "" "Germline" "-" "" "0" "" "" "g.94031027A>G" "" "VUS" ""
"0000122163" "0" "50" "1" "94495177" "94495177" "subst" "1.22342E-5" "01695" "ABCA4_000023" "g.94495177A>G" "2, 109474, 0, 0.00001827" "{PMID:Rosenberg 2007:17982420}" "" "c.4363T>C" "" "Germline" "-" "" "0" "" "" "g.94029621A>G" "" "VUS" ""
"0000122164" "0" "50" "1" "94495078" "94495078" "subst" "8.37044E-6" "01695" "ABCA4_000042" "g.94495078A>G" "1, 70400, 0, 0.0000142" "{PMID:Rosenberg 2007:17982420}" "" "c.4462T>C" "" "Germline" "-" "" "0" "" "" "g.94029522A>G" "" "VUS" ""
"0000122165" "0" "50" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "12, 60116, 0, 0.0001996" "{PMID:Rosenberg 2007:17982420}" "" "c.4469G>A" "" "Germline" "-" "" "0" "" "" "g.94029515C>T" "" "VUS" ""
"0000122166" "0" "50" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "12, 60116, 0, 0.0001996" "{PMID:Rosenberg 2007:17982420}" "" "c.4469G>A" "" "Germline" "-" "" "0" "" "" "g.94029515C>T" "" "VUS" ""
"0000122167" "0" "50" "1" "94487490" "94487490" "subst" "0.00122268" "01695" "ABCA4_000506" "g.94487490A>G" "158, 121114, 0, 0.001305" "{PMID:Rosenberg 2007:17982420}" "" "c.4685T>C" "" "Germline" "-" "" "0" "" "" "g.94021934A>G" "" "VUS" ""
"0000122168" "0" "50" "1" "94487490" "94487490" "subst" "0.00122268" "01695" "ABCA4_000506" "g.94487490A>G" "158, 121114, 0, 0.001305" "{PMID:Rosenberg 2007:17982420}" "" "c.4685T>C" "" "Germline" "-" "" "0" "" "" "g.94021934A>G" "" "VUS" ""
"0000122169" "0" "50" "1" "94487490" "94487490" "subst" "0.00122268" "01695" "ABCA4_000506" "g.94487490A>G" "158, 121114, 0, 0.001305" "{PMID:Rosenberg 2007:17982420}" "" "c.4685T>C" "" "Germline" "-" "" "0" "" "" "g.94021934A>G" "" "VUS" ""
"0000122170" "0" "50" "1" "94487490" "94487490" "subst" "0.00122268" "01695" "ABCA4_000506" "g.94487490A>G" "158, 121114, 0, 0.001305" "{PMID:Rosenberg 2007:17982420}" "" "c.4685T>C" "" "Germline" "-" "" "0" "" "" "g.94021934A>G" "" "VUS" ""
"0000122171" "0" "50" "1" "94486960" "94486960" "subst" "8.13206E-6" "01695" "ABCA4_000487" "g.94486960C>T" "2, 121152, 0, 0.00001651" "{PMID:Rosenberg 2007:17982420}" "" "c.4854G>A" "" "Germline" "-" "" "0" "" "" "g.94021404C>T" "" "VUS" ""
"0000122172" "0" "50" "1" "94486896" "94486896" "subst" "3.65562E-5" "01695" "ABCA4_000085" "g.94486896G>A" "1, 121394, 0, 0.000008238" "{PMID:Rosenberg 2007:17982420}" "" "c.4918C>T" "" "Germline" "-" "" "0" "" "" "g.94021340G>A" "" "VUS" ""
"0000122173" "0" "50" "1" "94486896" "94486896" "subst" "3.65562E-5" "01695" "ABCA4_000085" "g.94486896G>A" "1, 121394, 0, 0.000008238" "{PMID:Rosenberg 2007:17982420}" "" "c.4918C>T" "" "Germline" "-" "" "0" "" "" "g.94021340G>A" "" "VUS" ""
"0000122174" "0" "50" "1" "94486895" "94486895" "subst" "3.24923E-5" "01695" "ABCA4_000484" "g.94486895C>T" "7, 121398, 0, 0.00005766" "{PMID:Rosenberg 2007:17982420}" "" "c.4919G>A" "" "Germline" "-" "" "0" "" "" "g.94021339C>T" "" "VUS" ""
"0000122175" "0" "50" "1" "94488940" "94488940" "subst" "0" "01695" "ABCA4_000510" "g.94488940A>C" "" "{PMID:Rosenberg 2007:17982420}" "" "c.4667+2T>G" "" "Germline" "-" "" "0" "" "" "g.94023384A>C" "" "VUS" ""
"0000122176" "0" "50" "1" "94488940" "94488940" "subst" "0" "01695" "ABCA4_000510" "g.94488940A>C" "" "{PMID:Rosenberg 2007:17982420}" "" "c.4667+2T>G" "" "Germline" "-" "" "0" "" "" "g.94023384A>C" "" "VUS" ""
"0000122177" "0" "50" "1" "94485136" "94485136" "subst" "0" "01695" "ABCA4_000463" "g.94485136A>C" "" "{PMID:Rosenberg 2007:17982420}" "" "c.5196+2T>G" "" "Germline" "-" "" "0" "" "" "g.94019580A>C" "" "VUS" ""
"0000122178" "0" "50" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Rosenberg 2007:17982420}" "" "c.5461-10T>C" "" "Germline" "-" "" "0" "" "" "g.94011395A>G" "" "VUS" ""
"0000122179" "0" "50" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Rosenberg 2007:17982420}" "" "c.5461-10T>C" "" "Germline" "-" "" "0" "" "" "g.94011395A>G" "" "VUS" ""
"0000122180" "0" "50" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Rosenberg 2007:17982420}" "" "c.5461-10T>C" "" "Germline" "-" "" "0" "" "" "g.94011395A>G" "" "VUS" ""
"0000122181" "0" "50" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Rosenberg 2007:17982420}" "" "c.5461-10T>C" "" "Germline" "-" "" "0" "" "" "g.94011395A>G" "" "VUS" ""
"0000122182" "0" "50" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Rosenberg 2007:17982420}" "" "c.5461-10T>C" "" "Germline" "-" "" "0" "" "" "g.94011395A>G" "" "VUS" ""
"0000122183" "0" "50" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Rosenberg 2007:17982420}" "" "c.5461-10T>C" "" "Germline" "-" "" "0" "" "" "g.94011395A>G" "" "VUS" ""
"0000122184" "0" "50" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Rosenberg 2007:17982420}" "" "c.5461-10T>C" "" "Germline" "-" "" "0" "" "" "g.94011395A>G" "" "VUS" ""
"0000122185" "0" "50" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Rosenberg 2007:17982420}" "" "c.5461-10T>C" "" "Germline" "-" "" "0" "" "" "g.94011395A>G" "" "VUS" ""
"0000122186" "0" "50" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Rosenberg 2007:17982420}" "" "c.5461-10T>C" "" "Germline" "-" "" "0" "" "" "g.94011395A>G" "" "VUS" ""
"0000122187" "0" "50" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Rosenberg 2007:17982420}" "" "c.5461-10T>C" "" "Germline" "-" "" "0" "" "" "g.94011395A>G" "" "VUS" ""
"0000122188" "0" "50" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Rosenberg 2007:17982420}" "" "c.5461-10T>C" "" "Germline" "-" "" "0" "" "" "g.94011395A>G" "" "VUS" ""
"0000122189" "0" "50" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Rosenberg 2007:17982420}" "" "c.5461-10T>C" "" "Germline" "-" "" "0" "" "" "g.94011395A>G" "" "VUS" ""
"0000122190" "0" "50" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Rosenberg 2007:17982420}" "" "c.5461-10T>C" "" "Germline" "-" "" "0" "" "" "g.94011395A>G" "" "VUS" ""
"0000122191" "0" "50" "1" "94476812" "94476812" "subst" "0" "01695" "ABCA4_000048" "g.94476812A>G" "" "{PMID:Rosenberg 2007:17982420}" "" "c.5584+6T>C" "" "Germline" "-" "" "0" "" "" "g.94011256A>G" "" "VUS" ""
"0000122192" "0" "50" "1" "94476417" "94476417" "subst" "0" "01695" "ABCA4_000416" "g.94476417C>T" "" "{PMID:Rosenberg 2007:17982420}" "" "c.5653G>A" "" "Germline" "-" "" "0" "" "" "g.94010861C>T" "" "VUS" ""
"0000122193" "0" "50" "1" "94476417" "94476417" "subst" "0" "01695" "ABCA4_000416" "g.94476417C>T" "" "{PMID:Rosenberg 2007:17982420}" "" "c.5653G>A" "" "Germline" "-" "" "0" "" "" "g.94010861C>T" "" "VUS" ""
"0000122194" "0" "50" "1" "94476417" "94476417" "subst" "0" "01695" "ABCA4_000416" "g.94476417C>T" "" "{PMID:Rosenberg 2007:17982420}" "" "c.5653G>A" "" "Germline" "-" "" "0" "" "" "g.94010861C>T" "" "VUS" ""
"0000122195" "0" "50" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "42, 120772, 0, 0.0003478" "{PMID:Rosenberg 2007:17982420}" "" "c.5714+5G>A" "" "Germline" "-" "" "0" "" "" "g.94010795C>T" "" "VUS" ""
"0000122196" "0" "50" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "42, 120772, 0, 0.0003478" "{PMID:Rosenberg 2007:17982420}" "" "c.5714+5G>A" "" "Germline" "-" "" "0" "" "" "g.94010795C>T" "" "VUS" ""
"0000122197" "1" "50" "1" "94476417" "94476417" "subst" "0" "01695" "ABCA4_000416" "g.94476417C>T" "" "{PMID:Rosenberg 2007:17982420}" "" "c.5714+5G>A c.5653G>A" "" "Germline" "-" "" "0" "" "" "g.94010861C>T" "" "VUS" ""
"0000122198" "0" "50" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Rosenberg 2007:17982420}" "" "c.5714+5G>A c.5653G>A" "" "Germline" "-" "" "0" "" "" "g.94010795C>T" "" "VUS" ""
"0000122199" "1" "50" "1" "94476417" "94476417" "subst" "0" "01695" "ABCA4_000416" "g.94476417C>T" "" "{PMID:Rosenberg 2007:17982420}" "" "c.5714+5G>A c.5653G>A" "" "Germline" "-" "" "0" "" "" "g.94010861C>T" "" "VUS" ""
"0000122200" "0" "50" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Rosenberg 2007:17982420}" "" "c.5714+5G>A c.5653G>A" "" "Germline" "-" "" "0" "" "" "g.94010795C>T" "" "VUS" ""
"0000122201" "1" "50" "1" "94476417" "94476417" "subst" "0" "01695" "ABCA4_000416" "g.94476417C>T" "" "{PMID:Rosenberg 2007:17982420}" "" "c.5714+5G>A c.5653G>A" "" "Germline" "-" "" "0" "" "" "g.94010861C>T" "" "VUS" ""
"0000122202" "0" "50" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Rosenberg 2007:17982420}" "" "c.5714+5G>A c.5653G>A" "" "Germline" "-" "" "0" "" "" "g.94010795C>T" "" "VUS" ""
"0000122203" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Rosenberg 2007:17982420}" "" "c.5882G>A" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000122204" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Rosenberg 2007:17982420}" "" "c.5882G>A" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000122205" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Rosenberg 2007:17982420}" "" "c.5882G>A" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000122206" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Rosenberg 2007:17982420}" "" "c.5882G>A" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000122207" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Rosenberg 2007:17982420}" "" "c.5882G>A" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000122208" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Rosenberg 2007:17982420}" "" "c.5882G>A" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000122209" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Rosenberg 2007:17982420}" "" "c.5882G>A" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000122210" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Rosenberg 2007:17982420}" "" "c.5882G>A" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000122211" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Rosenberg 2007:17982420}" "" "c.5882G>A" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000122212" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Rosenberg 2007:17982420}" "" "c.5882G>A" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000122213" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Rosenberg 2007:17982420}" "" "c.5882G>A" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000122214" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Rosenberg 2007:17982420}" "" "c.5882G>A" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000122215" "0" "50" "1" "94473287" "94473287" "subst" "0.00293818" "01695" "ABCA4_000395" "g.94473287G>A" "352, 120336, 1, 0.002925" "{PMID:Rosenberg 2007:17982420}" "" "c.5908C>T" "" "Germline" "-" "" "0" "" "" "g.94007731G>A" "" "VUS" ""
"0000122216" "0" "50" "1" "94473278" "94473278" "del" "3.25908E-5" "01695" "ABCA4_000392" "g.94473278del" "" "{PMID:Rosenberg 2007:17982420}" "" "c.5917delG" "" "Germline" "-" "" "0" "" "" "g.94007722del" "" "VUS" ""
"0000122217" "0" "50" "1" "94473278" "94473278" "del" "3.25908E-5" "01695" "ABCA4_000392" "g.94473278del" "" "{PMID:Rosenberg 2007:17982420}" "" "c.5917delG" "" "Germline" "-" "" "0" "" "" "g.94007722del" "" "VUS" ""
"0000122218" "0" "50" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "26, 121404, 0, 0.0002142" "{PMID:Rosenberg 2007:17982420}" "" "c.6079C>T" "" "Germline" "-" "" "0" "" "" "g.94005509G>A" "" "VUS" ""
"0000122219" "0" "50" "1" "94471055" "94471055" "subst" "0.00035346" "01695" "ABCA4_000029" "g.94471055C>T" "47, 121404, 1, 0.0003871" "{PMID:Rosenberg 2007:17982420}" "" "c.6089G>A" "" "Germline" "-" "" "0" "" "" "g.94005499C>T" "" "VUS" ""
"0000122220" "0" "50" "1" "94471055" "94471055" "subst" "0.00035346" "01695" "ABCA4_000029" "g.94471055C>T" "47, 121404, 1, 0.0003871" "{PMID:Rosenberg 2007:17982420}" "" "c.6089G>A" "" "Germline" "-" "" "0" "" "" "g.94005499C>T" "" "VUS" ""
"0000122221" "0" "50" "1" "94471055" "94471055" "subst" "0.00035346" "01695" "ABCA4_000029" "g.94471055C>T" "47, 121404, 1, 0.0003871" "{PMID:Rosenberg 2007:17982420}" "" "c.6089G>A" "" "Germline" "-" "" "0" "" "" "g.94005499C>T" "" "VUS" ""
"0000122222" "0" "50" "1" "94471055" "94471055" "subst" "0.00035346" "01695" "ABCA4_000029" "g.94471055C>T" "47, 121404, 1, 0.0003871" "{PMID:Rosenberg 2007:17982420}" "" "c.6089G>A" "" "Germline" "-" "" "0" "" "" "g.94005499C>T" "" "VUS" ""
"0000122223" "0" "50" "1" "94471055" "94471055" "subst" "0.00035346" "01695" "ABCA4_000029" "g.94471055C>T" "47, 121404, 1, 0.0003871" "{PMID:Rosenberg 2007:17982420}" "" "c.6089G>A" "" "Germline" "-" "" "0" "" "" "g.94005499C>T" "" "VUS" ""
"0000122224" "0" "50" "1" "94471026" "94471026" "subst" "1.21925E-5" "01695" "ABCA4_000791" "g.94471026G>A" "2, 121394, 0, 0.00001648" "{PMID:Rosenberg 2007:17982420}" "" "c.6118C>T" "" "Germline" "-" "" "0" "" "" "g.94005470G>A" "" "VUS" ""
"0000122225" "0" "50" "1" "94467467" "94467467" "subst" "4.06164E-6" "01695" "ABCA4_000780" "g.94467467G>A" "" "{PMID:Rosenberg 2007:17982420}" "" "c.6229C>T" "" "Germline" "-" "" "0" "" "" "g.94001911G>A" "" "VUS" ""
"0000122226" "0" "50" "1" "94467467" "94467467" "subst" "4.06164E-6" "01695" "ABCA4_000780" "g.94467467G>A" "" "{PMID:Rosenberg 2007:17982420}" "" "c.6229C>T" "" "Germline" "-" "" "0" "" "" "g.94001911G>A" "" "VUS" ""
"0000122227" "0" "50" "1" "94467467" "94467467" "subst" "4.06164E-6" "01695" "ABCA4_000780" "g.94467467G>A" "" "{PMID:Rosenberg 2007:17982420}" "" "c.6229C>T" "" "Germline" "-" "" "0" "" "" "g.94001911G>A" "" "VUS" ""
"0000122228" "0" "50" "1" "94467467" "94467467" "subst" "4.06164E-6" "01695" "ABCA4_000780" "g.94467467G>A" "" "{PMID:Rosenberg 2007:17982420}" "" "c.6229C>T" "" "Germline" "-" "" "0" "" "" "g.94001911G>A" "" "VUS" ""
"0000122229" "0" "50" "1" "94467467" "94467467" "subst" "4.06164E-6" "01695" "ABCA4_000780" "g.94467467G>A" "" "{PMID:Rosenberg 2007:17982420}" "" "c.6229C>T" "" "Germline" "-" "" "0" "" "" "g.94001911G>A" "" "VUS" ""
"0000122230" "0" "50" "1" "94467467" "94467467" "subst" "4.06164E-6" "01695" "ABCA4_000780" "g.94467467G>A" "" "{PMID:Rosenberg 2007:17982420}" "" "c.6229C>T" "" "Germline" "-" "" "0" "" "" "g.94001911G>A" "" "VUS" ""
"0000122231" "0" "50" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "227, 121250, 3, 0.001872" "{PMID:Rosenberg 2007:17982420}" "" "c.6320G>A" "" "Germline" "-" "" "0" "" "" "g.94001068C>T" "" "VUS" ""
"0000122232" "0" "50" "1" "94466422" "94466422" "subst" "2.43651E-5" "01695" "ABCA4_000817" "g.94466422C>T" "3, 121398, 0, 0.00002471" "{PMID:Rosenberg 2007:17982420}" "" "c.6449G>A" "" "Germline" "-" "" "0" "" "" "g.94000866C>T" "" "VUS" ""
"0000122233" "0" "50" "1" "94463617" "94463617" "subst" "0.0109114" "01695" "ABCA4_000013" "g.94463617C>T" "1235, 121366, 14, 0.01018" "{PMID:Rosenberg 2007:17982420}" "" "c.6529G>A" "" "Germline" "-" "" "0" "" "" "g.93998061C>T" "" "VUS" ""
"0000122234" "0" "50" "1" "94463617" "94463617" "subst" "0.0109114" "01695" "ABCA4_000013" "g.94463617C>T" "1235, 121366, 14, 0.01018" "{PMID:Rosenberg 2007:17982420}" "" "c.6529G>A" "" "Germline" "-" "" "0" "" "" "g.93998061C>T" "" "VUS" ""
"0000122235" "0" "50" "1" "94526270" "94526270" "dup" "0" "01695" "ABCA4_000764" "g.94526270dup" "" "{PMID:Michaelides 2007:18024811}" "" "Leu661ins1ctG" "" "Germline" "-" "" "0" "" "" "g.94060714dup" "" "VUS" ""
"0000122236" "0" "50" "1" "94505604" "94505604" "subst" "0.00645586" "01695" "ABCA4_000092" "g.94505604A>C" "879, 64452, 44, 0.01364" "{PMID:Michaelides 2007:18024811}" "" "Leu1201Arg" "" "Germline" "-" "" "0" "" "" "g.94040048A>C" "" "VUS" ""
"0000122237" "0" "50" "1" "94505604" "94505604" "subst" "0.00645586" "01695" "ABCA4_000092" "g.94505604A>C" "879, 64452, 44, 0.01364" "{PMID:Michaelides 2007:18024811}" "" "Leu1201Arg" "" "Germline" "-" "" "0" "" "" "g.94040048A>C" "" "VUS" ""
"0000122238" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Michaelides 2007:18024811}" "" "Gly1961Glu" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000122239" "0" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "12, 60116, 0, 0.0001996" "{PMID:Michaelides 2007:18024811}" "" "Cys1490Tyr" "" "Germline" "?" "" "0" "" "" "g.94029515C>T" "" "likely pathogenic" ""
"0000122240" "0" "50" "1" "94528774" "94528774" "subst" "0.00264827" "01695" "ABCA4_000298" "g.94528774C>T" "320, 121410, 2, 0.002636" "{PMID:Michaelides 2007:18024811}" "" "Val552Ile" "" "Germline" "-" "" "0" "" "" "g.94063218C>T" "" "VUS" ""
"0000122241" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Michaelides 2007:18024811}" "" "Gly1961Glu" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000122242" "0" "70" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "21, 121302, 0, 0.0001731" "{PMID:Michaelides 2007:18024811}" "" "Asn965Ser" "" "Germline" "?" "" "0" "" "" "g.94046943T>C" "" "likely pathogenic" ""
"0000122243" "0" "70" "1" "94463434" "94463434" "subst" "0" "01695" "ABCA4_000856" "g.94463434G>A" "" "{PMID:Michaelides 2007:18024811}" "" "Gln2238Stop" "" "Germline" "-" "" "0" "" "" "g.93997878G>A" "" "likely pathogenic" ""
"0000122244" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Michaelides 2007:18024811}" "" "Gly1961Glu" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "pathogenic" ""
"0000122245" "0" "50" "1" "94510248" "94510248" "subst" "0.000544123" "01695" "ABCA4_000107" "g.94510248C>G" "87, 121410, 0, 0.0007166" "{PMID:Michaelides 2007:18024811}" "" "Gly991Arg" "" "Germline" "-" "" "0" "" "" "g.94044692C>G" "" "VUS" ""
"0000122246" "0" "50" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "173, 121304, 0, 0.001426" "{PMID:Michaelides 2007:18024811}" "" "Ala1038Val" "" "Germline" "-" "" "0" "" "" "g.94043413G>A" "" "VUS" ""
"0000122247" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Michaelides 2007:18024811}" "" "Gly1961Glu" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000122248" "0" "50" "1" "94496039" "94496039" "subst" "0.00157963" "01695" "ABCA4_000552" "g.94496039C>T" "173, 121380, 1, 0.001425" "{PMID:Michaelides 2007:18024811}" "" "Val1433Ile" "On its own not significantely found more often in published STGD compared to ExAC (p-value 0.71). However, together with other non-significant variants published related to STGD, they are significantly more often in STGD patients (p-value <0.01)." "Germline" "-" "" "0" "" "" "g.94030483C>T" "" "VUS" ""
"0000122249" "0" "50" "1" "94512574" "94512574" "subst" "0.00025589" "01695" "ABCA4_000694" "g.94512574G>C" "29, 121142, 0, 0.0002394" "{PMID:Michaelides 2007:18024811}" "" "Pro940Arg" "On its own not significantely found more often in published STGD compared to ExAC (p-value 0.98). However, together with other non-significant variants published related to STGD, they are significantly more often in STGD patients (p-value <0.01)." "Germline" "-" "" "0" "" "" "g.94047018G>C" "" "VUS" ""
"0000122250" "0" "50" "1" "94543278" "94543278" "subst" "0.000178952" "01695" "ABCA4_000004" "g.94543278G>A" "23, 120992, 0, 0.0001901" "{PMID:Michaelides 2007:18024811}" "" "Arg508Cys" "" "Germline" "-" "" "0" "" "" "g.94077722G>A" "" "VUS" ""
"0000122251" "0" "50" "1" "94502756" "94502756" "subst" "0.000422575" "01695" "ABCA4_000032" "g.94502756G>A" "37, 121234, 1, 0.0003052" "{PMID:Michaelides 2007:18024811}" "" "Thr1253Met" "On its own not significantely found more often in published STGD compared to ExAC (p-value 0.14). However, together with other non-significant variants published related to STGD, they are significantly more often in STGD patients (p-value <0.01)." "Germline" "-" "" "0" "" "" "g.94037200G>A" "" "VUS" ""
"0000122252" "0" "50" "1" "94528815" "94528815" "subst" "0" "01695" "ABCA4_000300" "g.94528815G>T" "" "{PMID:Michaelides 2007:18024811}" "" "Ala538Asp" "" "Germline" "-" "" "0" "" "" "g.94063259G>T" "" "VUS" ""
"0000122253" "0" "90" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "24, 119274, 0, 0.0002012" "{PMID:Hwang 2009:18854780}" "" "P1380L" "" "Germline" "-" "" "0" "" "" "g.94031110G>A" "" "pathogenic" ""
"0000122254" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "42, 120772, 0, 0.0003478" "{PMID:Hwang 2009:18854780}" "" "IVS40+5G>A" "" "Germline" "?" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic" ""
"0000122255" "3" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "24, 119274, 0, 0.0002012" "{PMID:Hwang 2009:18854780}" "" "P1380L" "" "Germline" "?" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic" ""
"0000122256" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "24, 119274, 0, 0.0002012" "{PMID:Hwang 2009:18854780}" "" "P1380L" "" "Germline" "-" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic" ""
"0000122257" "0" "70" "1" "94471055" "94471055" "subst" "0.00035346" "01695" "ABCA4_000029" "g.94471055C>T" "47, 121404, 1, 0.0003871" "{PMID:Hwang 2009:18854780}" "" "R2030Q" "" "Germline" "?" "" "0" "" "" "g.94005499C>T" "" "likely pathogenic" ""
"0000122258" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "24, 119274, 0, 0.0002012" "{PMID:Hwang 2009:18854780}" "" "P1380L" "" "Germline" "-" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic" ""
"0000122259" "0" "70" "1" "94485247" "94485247" "subst" "4.07647E-5" "01695" "ABCA4_000475" "g.94485247C>T" "2, 109176, 0, 0.00001832" "{PMID:Hwang 2009:18854780}" "" "S1696N" "" "Germline" "?" "" "0" "" "" "g.94019691C>T" "" "likely pathogenic" ""
"0000122260" "0" "50" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "42, 120772, 0, 0.0003478" "{PMID:Hwang 2009:18854780}" "" "IVS40+5G>A" "" "Germline" "-" "" "0" "" "" "g.94010795C>T" "" "VUS" ""
"0000122261" "0" "50" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "14, 121282, 0, 0.0001154" "{PMID:Hwang 2009:18854780}" "" "R1108C" "" "Germline" "-" "" "0" "" "" "g.94042767G>A" "" "VUS" ""
"0000122262" "0" "70" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "14, 120056, 0, 0.0001166" "{PMID:Passerini 2010:19265867}" "" "R212C" "" "Germline" "-" "" "0" "" "" "g.94098928G>A" "" "likely pathogenic" ""
"0000122263" "0" "70" "1" "94509026" "94509026" "subst" "4.06497E-5" "01695" "ABCA4_000660" "g.94509026G>A" "5, 120988, 0, 0.00004133" "{PMID:Passerini 2010:19265867}" "" "T1019M" "" "Germline" "?" "" "0" "" "" "g.94043470G>A" "" "likely pathogenic" ""
"0000122264" "3" "30" "1" "94496039" "94496039" "subst" "0.00157963" "01695" "ABCA4_000552" "g.94496039C>T" "173, 121380, 1, 0.001425" "{PMID:Passerini 2010:19265867}" "" "V1433I" "On its own not significantely found more often in published STGD compared to ExAC (p-value 0.71). However, together with other non-significant variants published related to STGD, they are significantly more often in STGD patients (p-value <0.01)." "Germline" "?" "" "0" "" "" "g.94030483C>T" "" "likely benign" ""
"0000122265" "3" "70" "1" "94487251" "94487251" "subst" "2.85679E-5" "01695" "ABCA4_000490" "g.94487251G>T" "3, 113672, 0, 0.00002639" "{PMID:Passerini 2010:19265867}" "" "A1598D" "" "Germline" "?" "" "0" "" "" "g.94021695G>T" "" "likely pathogenic" ""
"0000122266" "0" "70" "1" "94577008" "94577008" "subst" "0" "01695" "ABCA4_000223" "g.94577008G>T" "" "{PMID:Passerini 2010:19265867}" "" "N96K" "" "Germline" "-" "" "0" "" "" "g.94111452G>T" "" "likely pathogenic" ""
"0000122267" "0" "70" "1" "94510286" "94510286" "subst" "0" "01695" "ABCA4_000182" "g.94510286C>T" "" "{PMID:Passerini 2010:19265867}" "" "G978D" "" "Germline" "?" "" "0" "" "" "g.94044730C>T" "" "likely pathogenic" ""
"0000122268" "0" "70" "1" "94487251" "94487251" "subst" "2.85679E-5" "01695" "ABCA4_000490" "g.94487251G>T" "3, 113672, 0, 0.00002639" "{PMID:Passerini 2010:19265867}, {PMID:Sodi 2010:20128570}, {PMID:Testa 2012:22661472}" "" "A1598D" "" "Germline" "-" "" "0" "" "" "g.94021695G>T" "" "likely pathogenic" ""
"0000122269" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Passerini 2010:19265867}, {PMID:Sodi 2010:20128570}, {PMID:Testa 2012:22661472}" "" "G1961E" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000122270" "0" "70" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "14, 120056, 0, 0.0001166" "{PMID:Passerini 2010:19265867}" "" "R212C" "" "Germline" "-" "" "0" "" "" "g.94098928G>A" "" "likely pathogenic" ""
"0000122271" "0" "70" "1" "94509026" "94509026" "subst" "4.06497E-5" "01695" "ABCA4_000660" "g.94509026G>A" "5, 120988, 0, 0.00004133" "{PMID:Passerini 2010:19265867}" "" "T1019M" "" "Germline" "?" "" "0" "" "" "g.94043470G>A" "" "likely pathogenic" ""
"0000122272" "0" "50" "1" "94526154" "94526154" "subst" "4.06441E-6" "01695" "ABCA4_000752" "g.94526154C>T" "" "{PMID:Passerini 2010:19265867}" "" "W700X" "found no variant 2nd chromosome" "Germline" "-" "" "0" "" "" "g.94060598C>T" "" "VUS" ""
"0000122273" "0" "70" "1" "94461733" "94461733" "del" "0" "01695" "ABCA4_000135" "g.94461733del" "" "{PMID:Passerini 2010:19265867}" "" "6750delA" "" "Germline" "-" "" "0" "" "" "g.93996177del" "" "likely pathogenic" ""
"0000122274" "0" "90" "1" "94522239" "94522239" "subst" "2.03305E-5" "01695" "ABCA4_000736" "g.94522239A>T" "1, 119332, 0, 0.00000838" "{PMID:Passerini 2010:19265867}" "" "V767D" "" "Germline" "?" "" "0" "" "" "g.94056683A>T" "" "pathogenic" ""
"0000122275" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Passerini 2010:19265867}, {PMID:Sodi 2010:20128570}" "" "G1961E" "found no variant 2nd chromosome" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000122276" "0" "70" "1" "94586541" "94586541" "subst" "4.0624E-6" "01695" "ABCA4_000256" "g.94586541G>A" "1, 121388, 0, 0.000008238" "{PMID:Passerini 2010:19265867}" "" "Q21X" "" "Germline" "-" "" "0" "" "" "g.94120985G>A" "" "likely pathogenic" ""
"0000122277" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Passerini 2010:19265867}" "" "G1961E" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "pathogenic" ""
"0000122278" "0" "70" "1" "94505675" "94505675" "subst" "0" "01695" "ABCA4_000610" "g.94505675G>T" "" "{PMID:Passerini 2010:19265867}, {PMID:Sodi 2010:20128570}" "" "C1177X" "" "Germline" "-" "" "0" "" "" "g.94040119G>T" "" "likely pathogenic" ""
"0000122279" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Passerini 2010:19265867}, {PMID:Sodi 2010:20128570}" "" "G1961E" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "pathogenic" ""
"0000122280" "0" "70" "1" "94505675" "94505675" "subst" "0" "01695" "ABCA4_000610" "g.94505675G>T" "" "{PMID:Passerini 2010:19265867}" "" "C1177X" "" "Germline" "-" "" "0" "" "" "g.94040119G>T" "" "likely pathogenic" ""
"0000122281" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Passerini 2010:19265867}" "" "G1961E" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "pathogenic" ""
"0000122282" "1" "50" "1" "94512485" "94512485" "subst" "0" "01695" "ABCA4_000681" "g.94512485T>G" "" "{PMID:Passerini 2010:19265867}" "" "T970P-F1015E" "" "Germline" "-" "" "0" "" "" "g.94046929T>G" "" "VUS" ""
"0000122283" "1" "50" "1" "94510176" "94510176" "subst" "0" "01695" "ABCA4_000663" "g.94510176A>S" "" "{PMID:Passerini 2010:19265867}" "" "T970P-F1015E" "" "Germline" "-" "" "0" "" "" "g.94044620A>S" "" "VUS" ""
"0000122284" "1" "50" "1" "94512485" "94512485" "subst" "0" "01695" "ABCA4_000681" "g.94512485T>G" "" "{PMID:Passerini 2010:19265867}" "" "T970P-F1015E" "" "Germline" "-" "" "0" "" "" "g.94046929T>G" "" "VUS" ""
"0000122285" "1" "50" "1" "94510176" "94510176" "subst" "0" "01695" "ABCA4_000663" "g.94510176A>S" "" "{PMID:Passerini 2010:19265867}" "" "T970P-F1015E" "" "Germline" "-" "" "0" "" "" "g.94044620A>S" "" "VUS" ""
"0000122286" "0" "70" "1" "94544257" "94544257" "subst" "0" "01695" "ABCA4_000324" "g.94544257G>T" "" "{PMID:Passerini 2010:19265867}" "" "N415K" "" "Germline" "-" "" "0" "" "" "g.94078701G>T" "" "likely pathogenic" ""
"0000122287" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Passerini 2010:19265867}" "" "G1961E" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000122288" "3" "90" "1" "94574251" "94574251" "dup" "0" "01695" "ABCA4_000216" "g.94574251dup" "" "{PMID:Passerini 2010:19265867}" "" "324-327insT" "" "Germline" "?" "" "0" "" "" "g.94108695dup" "" "pathogenic" ""
"0000122289" "0" "70" "1" "94496581" "94496581" "subst" "0" "01695" "ABCA4_000565" "g.94496581C>T" "" "{PMID:Passerini 2010:19265867}" "" "W1408X" "" "Germline" "-" "" "0" "" "" "g.94031025C>T" "" "likely pathogenic" ""
"0000122290" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Passerini 2010:19265867}" "" "G1961E" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "pathogenic" ""
"0000122291" "0" "70" "1" "94505675" "94505675" "subst" "0" "01695" "ABCA4_000610" "g.94505675G>T" "" "{PMID:Passerini 2010:19265867}, {PMID:Sodi 2010:20128570}" "" "C1177X" "" "Germline" "-" "" "0" "" "" "g.94040119G>T" "" "likely pathogenic" ""
"0000122292" "0" "90" "1" "94487251" "94487251" "subst" "2.85679E-5" "01695" "ABCA4_000490" "g.94487251G>T" "3, 113672, 0, 0.00002639" "{PMID:Passerini 2010:19265867}, {PMID:Sodi 2010:20128570}" "" "A1598D" "" "Germline" "?" "" "0" "" "" "g.94021695G>T" "" "pathogenic" ""
"0000122293" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Passerini 2010:19265867}" "" "G1961E" "found no variant 2nd chromosome" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000122294" "0" "70" "1" "94586541" "94586541" "subst" "4.0624E-6" "01695" "ABCA4_000256" "g.94586541G>A" "1, 121388, 0, 0.000008238" "{PMID:Passerini 2010:19265867}" "" "Q21X" "" "Germline" "-" "" "0" "" "" "g.94120985G>A" "" "likely pathogenic" ""
"0000122295" "1" "90" "1" "94512485" "94512485" "subst" "0" "01695" "ABCA4_000681" "g.94512485T>G" "" "{PMID:Passerini 2010:19265867}" "" "T970P-F1015E" "" "Germline" "?" "" "0" "" "" "g.94046929T>G" "" "pathogenic" ""
"0000122296" "1" "90" "1" "94510176" "94510176" "subst" "0" "01695" "ABCA4_000663" "g.94510176A>S" "" "{PMID:Passerini 2010:19265867}" "" "T970P-F1015E" "" "Germline" "?" "" "0" "" "" "g.94044620A>S" "" "pathogenic" ""
"0000122297" "0" "70" "1" "94520735" "94520735" "subst" "0" "01695" "ABCA4_000718" "g.94520735A>C" "" "{PMID:Passerini 2010:19265867}" "" "M840R" "" "Germline" "-" "" "0" "" "" "g.94055179A>C" "" "likely pathogenic" ""
"0000122298" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Passerini 2010:19265867}" "" "G1961E" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000122299" "0" "70" "1" "94505675" "94505675" "subst" "0" "01695" "ABCA4_000610" "g.94505675G>T" "" "{PMID:Passerini 2010:19265867}" "" "C1177X" "" "Germline" "-" "" "0" "" "" "g.94040119G>T" "" "likely pathogenic" ""
"0000122300" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Passerini 2010:19265867}" "" "G1961E" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "pathogenic" ""
"0000122301" "0" "50" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "13, 121216, 0, 0.0001072" "{PMID:Passerini 2010:19265867}, {PMID:Sodi 2010:20128570}" "" "V256splice" "found no variant 2nd chromosome" "Germline" "-" "" "0" "" "" "g.94098794C>A" "" "VUS" ""
"0000122302" "0" "70" "1" "94548998" "94548998" "subst" "0" "01695" "ABCA4_000362" "g.94548998C>A" "" "{PMID:Passerini 2010:19265867}" "" "IVS6-1g>t" "" "Germline" "-" "" "0" "" "" "g.94083442C>A" "" "likely pathogenic" ""
"0000122303" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "14, 121282, 0, 0.0001154" "{PMID:Passerini 2010:19265867}" "" "R1108C" "" "Germline" "?" "" "0" "" "" "g.94042767G>A" "" "pathogenic" ""
"0000122304" "0" "90" "1" "94463484" "94463484" "subst" "0" "01695" "ABCA4_000801" "g.94463484A>G" "" "{PMID:Passerini 2010:19265867}" "" "L2221P" "" "Germline" "-" "" "0" "" "" "g.93997928A>G" "" "pathogenic" ""
"0000122305" "1" "50" "1" "94568675" "94568675" "subst" "0.00146249" "01695" "ABCA4_000210" "g.94568675T>C" "" "{PMID:Passerini 2010:19265867}" "" "5109delG-I156V" "" "Germline" "?" "" "0" "" "" "g.94103119T>C" "" "VUS" ""
"0000122306" "1" "70" "1" "94485225" "94485225" "del" "0" "01695" "ABCA4_000472" "g.94485225del" "" "{PMID:Passerini 2010:19265867}" "" "5109delG-I156V" "" "Germline" "?" "" "0" "" "" "g.94019669del" "" "likely pathogenic" ""
"0000122307" "0" "90" "1" "94544877" "94544877" "subst" "4.06124E-6" "01695" "ABCA4_000326" "g.94544877C>G" "1, 121408, 0, 0.000008237" "{PMID:Passerini 2010:19265867}" "" "IVS9+1G>C" "" "Germline" "-" "" "0" "" "" "g.94079321C>G" "" "pathogenic" ""
"0000122308" "0" "90" "1" "94508349" "94508349" "subst" "0" "01695" "ABCA4_001006" "g.94508349G>Y" "" "{PMID:Passerini 2010:19265867}" "" "S1099X" "Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message." "Germline" "?" "" "0" "" "" "g.94042793G>Y" "" "pathogenic" ""
"0000122309" "0" "90" "1" "94473788" "94473788" "del" "0" "01695" "ABCA4_000398" "g.94473788del" "" "{PMID:Passerini 2010:19265867}, {PMID:Sodi 2010:20128570}" "" "IVS42+4delG" "" "Germline" "-" "" "0" "" "" "g.94008232del" "" "pathogenic" ""
"0000122310" "0" "50" "1" "94486794" "94486794" "subst" "0" "01695" "ABCA4_000478" "g.94486794A>G" "" "{PMID:Passerini 2010:19265867}, {PMID:Sodi 2010:20128570}" "" "IVS35+2t>c" "" "Germline" "?" "" "0" "" "" "g.94021238A>G" "" "VUS" ""
"0000122311" "0" "50" "1" "94466658" "94466658" "subst" "8.14817E-6" "01695" "ABCA4_000132" "g.94466658C>T" "1, 120798, 0, 0.000008278" "{PMID:Passerini 2010:19265867}" "" "E2096K" "found no variant 2nd chromosome" "Germline" "-" "" "0" "" "" "g.94001102C>T" "" "VUS" ""
"0000122312" "0" "50" "1" "94496547" "94496547" "subst" "1.21904E-5" "01695" "ABCA4_000560" "g.94496547C>T" "" "{PMID:Passerini 2010:19265867}" "" "IVS28+5g>a" "found no variant 2nd chromosome" "Germline" "-" "" "0" "" "" "g.94030991C>T" "" "VUS" ""
"0000122313" "1" "50" "1" "94495090" "94495090" "subst" "0" "01695" "ABCA4_000543" "g.94495090G>A" "" "{PMID:Passerini 2010:19265867}" "" "P1484S-G1961E" "" "Germline" "-" "" "0" "" "" "g.94029534G>A" "" "VUS" ""
"0000122314" "1" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Passerini 2010:19265867}" "" "P1484S-G1961E" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000122315" "0" "70" "1" "94577093" "94577093" "subst" "8.12394E-6" "01695" "ABCA4_000147" "g.94577093G>A" "2, 121276, 0, 0.00001649" "{PMID:Passerini 2010:19265867}" "" "P68L" "" "Germline" "?" "" "0" "" "" "g.94111537G>A" "" "likely pathogenic" ""
"0000122316" "1" "50" "1" "94495090" "94495090" "subst" "0" "01695" "ABCA4_000543" "g.94495090G>A" "" "{PMID:Passerini 2010:19265867}" "" "P1484S-G1961E" "" "Germline" "-" "" "0" "" "" "g.94029534G>A" "" "VUS" ""
"0000122317" "1" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Passerini 2010:19265867}" "" "P1484S-G1961E" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000122318" "0" "70" "1" "94577093" "94577093" "subst" "8.12394E-6" "01695" "ABCA4_000147" "g.94577093G>A" "2, 121276, 0, 0.00001649" "{PMID:Passerini 2010:19265867}" "" "P68L" "" "Germline" "?" "" "0" "" "" "g.94111537G>A" "" "likely pathogenic" ""
"0000122319" "1" "50" "1" "94495090" "94495090" "subst" "0" "01695" "ABCA4_000543" "g.94495090G>A" "" "{PMID:Passerini 2010:19265867}" "" "P1484S-G1961E" "" "Germline" "-" "" "0" "" "" "g.94029534G>A" "" "VUS" ""
"0000122320" "1" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Passerini 2010:19265867}" "" "P1484S-G1961E" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000122321" "0" "70" "1" "94577093" "94577093" "subst" "8.12394E-6" "01695" "ABCA4_000147" "g.94577093G>A" "2, 121276, 0, 0.00001649" "{PMID:Passerini 2010:19265867}" "" "P68L" "" "Germline" "?" "" "0" "" "" "g.94111537G>A" "" "likely pathogenic" ""
"0000122322" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Passerini 2010:19265867}" "" "G1961E" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "pathogenic" ""
"0000122323" "0" "70" "1" "94473231" "94473234" "del" "0" "01695" "ABCA4_000387" "g.94473231_94473234del" "" "{PMID:Passerini 2010:19265867}" "" "5961delGGAC" "" "Germline" "?" "" "0" "" "" "g.94007675_94007678del" "" "likely pathogenic" ""
"0000122324" "0" "70" "1" "94486794" "94486794" "subst" "0" "01695" "ABCA4_000478" "g.94486794A>G" "" "{PMID:Passerini 2010:19265867}, {PMID:Sodi 2010:20128570}, {PMID:Testa 2012:22661472}" "" "IVS35+2t>c" "" "Germline" "-" "" "0" "" "" "g.94021238A>G" "" "likely pathogenic" ""
"0000122325" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Passerini 2010:19265867}, {PMID:Sodi 2010:20128570}, {PMID:Testa 2012:22661472}" "" "G1961E" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "pathogenic" ""
"0000122326" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Passerini 2010:19265867}" "" "L541P/A1038V" "" "Germline" "-" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000122327" "1" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Passerini 2010:19265867}" "" "L541P/A1038V" "" "Germline" "-" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic" ""
"0000122328" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Passerini 2010:19265867}" "" "G1961E" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000122329" "0" "90" "1" "94473788" "94473788" "del" "0" "01695" "ABCA4_000398" "g.94473788del" "" "{PMID:Passerini 2010:19265867}, {PMID:Sodi 2010:20128570}" "" "IVS42+4delG" "" "Germline" "-" "" "0" "" "" "g.94008232del" "" "pathogenic" ""
"0000122330" "0" "50" "1" "94486794" "94486794" "subst" "0" "01695" "ABCA4_000478" "g.94486794A>G" "" "{PMID:Passerini 2010:19265867}, {PMID:Sodi 2010:20128570}" "" "IVS35+2t>c" "" "Germline" "?" "" "0" "" "" "g.94021238A>G" "" "VUS" ""
"0000122331" "0" "50" "1" "94526296" "94526296" "subst" "1.64555E-5" "01695" "ABCA4_000768" "g.94526296G>A" "1, 96614, 0, 0.00001035" "{PMID:Passerini 2010:19265867}" "" "R653C" "found no variant 2nd chromosome" "Germline" "-" "" "0" "" "" "g.94060740G>A" "" "VUS" ""
"0000122332" "0" "70" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "14, 120056, 0, 0.0001166" "{PMID:Passerini 2010:19265867}" "" "R212C" "" "Germline" "-" "" "0" "" "" "g.94098928G>A" "" "likely pathogenic" ""
"0000122333" "0" "70" "1" "94509026" "94509026" "subst" "4.06497E-5" "01695" "ABCA4_000660" "g.94509026G>A" "5, 120988, 0, 0.00004133" "{PMID:Passerini 2010:19265867}" "" "T1019M" "" "Germline" "?" "" "0" "" "" "g.94043470G>A" "" "likely pathogenic" ""
"0000122334" "0" "70" "1" "94487251" "94487251" "subst" "2.85679E-5" "01695" "ABCA4_000490" "g.94487251G>T" "3, 113672, 0, 0.00002639" "{PMID:Passerini 2010:19265867}" "" "A1598D" "" "Germline" "-" "" "0" "" "" "g.94021695G>T" "" "likely pathogenic" ""
"0000122335" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Passerini 2010:19265867}" "" "G1961E" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000122336" "0" "70" "1" "94508412" "94508412" "subst" "0" "01695" "ABCA4_000644" "g.94508412C>T" "" "{PMID:Passerini 2010:19265867}" "" "G1078E" "" "Germline" "-" "" "0" "" "" "g.94042856C>T" "" "likely pathogenic" ""
"0000122337" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Passerini 2010:19265867}" "" "G1961E" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000122338" "0" "50" "1" "94508919" "94508919" "subst" "7.31707E-5" "01695" "ABCA4_000653" "g.94508919G>A" "9, 121266, 0, 0.00007422" "{PMID:Passerini 2010:19265867}" "" "R1055W" "on its own not significantely found more often in STGD compared to ExAC (p-value 0.3), together with other non-significant variants published related to STGD, significantly more often in STGD patients (p-value <0.01); found no variant 2nd chromosome" "Germline" "-" "" "0" "" "" "g.94043363G>A" "" "VUS" ""
"0000122339" "0" "70" "1" "0" "0" "" "0" "01695" "ABCA4_001007" "g.?" "" "{PMID:Passerini 2010:19265867}" "" "4021ins24bp" "" "Germline" "-" "" "0" "" "" "" "" "likely pathogenic" ""
"0000122340" "1" "50" "1" "94490567" "94490567" "subst" "5.68528E-5" "01695" "ABCA4_000026" "g.94490567G>A" "" "{PMID:Passerini 2010:19265867}" "" "T1526M-G1961E" "" "Germline" "?" "" "0" "" "" "g.94025011G>A" "" "VUS" ""
"0000122341" "1" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Passerini 2010:19265867}" "" "T1526M-G1961E" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000122342" "0" "70" "1" "94495104" "94495104" "subst" "0" "01695" "ABCA4_001008" "g.94495104C>T^94495105C>T" "" "{PMID:Passerini 2010:19265867}" "" "W1479X" "Variant Error [ESYNTAX]: This genomic variant has an error (char 26: expected EOF). Please fix this entry and then remove this message." "Germline" "-" "" "0" "" "" "" "" "likely pathogenic" ""
"0000122343" "0" "90" "1" "94466452" "94466452" "subst" "4.06088E-6" "01695" "ABCA4_000822" "g.94466452A>T" "1, 121406, 0, 0.000008237" "{PMID:Passerini 2010:19265867}" "" "L2140Q" "" "Germline" "?" "" "0" "" "" "g.94000896A>T" "" "pathogenic" ""
"0000122344" "0" "70" "1" "94495104" "94495104" "subst" "0" "01695" "ABCA4_001008" "g.94495104C>T^94495105C>T" "" "{PMID:Passerini 2010:19265867}" "" "W1479X" "Variant Error [ESYNTAX]: This genomic variant has an error (char 26: expected EOF). Please fix this entry and then remove this message." "Germline" "-" "" "0" "" "" "" "" "likely pathogenic" ""
"0000122345" "0" "90" "1" "94466452" "94466452" "subst" "4.06088E-6" "01695" "ABCA4_000822" "g.94466452A>T" "1, 121406, 0, 0.000008237" "{PMID:Passerini 2010:19265867}" "" "L2140Q" "" "Germline" "?" "" "0" "" "" "g.94000896A>T" "" "pathogenic" ""
"0000122346" "0" "70" "1" "94495157" "94495157" "subst" "0" "01695" "ABCA4_001009" "g.94495157C>T^g.94495158C>" "" "{PMID:Passerini 2010:19265867}, {PMID:Sodi 2010:20128570}" "" "W1461X" "Variant Error [ESYNTAX]: This genomic variant has an error (char 26: expected EOF). Please fix this entry and then remove this message." "Germline" "-" "" "0" "" "" "" "" "likely pathogenic" ""
"0000122347" "0" "90" "1" "94473266" "94473266" "subst" "8.14677E-6" "01695" "ABCA4_000389" "g.94473266C>T" "1, 120422, 0, 0.000008304" "{PMID:Passerini 2010:19265867}, {PMID:Sodi 2010:20128570}" "" "G1977S" "" "Germline" "?" "" "0" "" "" "g.94007710C>T" "" "pathogenic" ""
"0000122348" "0" "90" "1" "94508353" "94508353" "subst" "2.8431E-5" "01695" "ABCA4_000141" "g.94508353G>A" "4, 121358, 0, 0.00003296" "{PMID:Passerini 2010:19265867}" "" "R1098C/L1970F" "" "Germline" "-" "" "0" "" "" "g.94042797G>A" "" "pathogenic" ""
"0000122349" "0" "70" "1" "94463598" "94463601" "dup" "0" "01695" "ABCA4_000808" "g.94463598_94463601dup" "" "{PMID:Passerini 2010:19265867}" "" "6548insTGAA" "" "Germline" "?" "" "0" "" "" "g.93998042_93998045dup" "" "likely pathogenic" ""
"0000122350" "0" "90" "1" "94510290" "94510290" "subst" "0" "01695" "ABCA4_000672" "g.94510290T>G" "" "{PMID:Passerini 2010:19265867}" "" "T977P" "" "Germline" "-" "" "0" "" "" "g.94044734T>G" "" "pathogenic" ""
"0000122351" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "42, 120772, 0, 0.0003478" "{PMID:Passerini 2010:19265867}" "" "IVS40+5g>a" "" "Germline" "?" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic" ""
"0000122352" "0" "90" "1" "94526184" "94526184" "subst" "0" "01695" "ABCA4_000755" "g.94526184C>A" "" "{PMID:Passerini 2010:19265867}" "" "G690V" "" "Germline" "-" "" "0" "" "" "g.94060628C>A" "" "pathogenic" ""
"0000122353" "0" "70" "1" "94497468" "94497468" "subst" "0" "01695" "ABCA4_000582" "g.94497468G>A" "" "{PMID:Passerini 2010:19265867}" "" "Q1332X" "" "Germline" "?" "" "0" "" "" "g.94031912G>A" "" "likely pathogenic" ""
"0000122354" "0" "90" "1" "94528714" "94528714" "subst" "0" "01695" "ABCA4_000296" "g.94528714G>A" "" "{PMID:Passerini 2010:19265867}" "" "R572X" "" "Germline" "-" "" "0" "" "" "g.94063158G>A" "" "pathogenic" ""
"0000122355" "1" "90" "1" "94495123" "94495123" "subst" "0.000117967" "01695" "ABCA4_000544" "g.94495123G>T" "" "{PMID:Passerini 2010:19265867}" "" "L1473M-4733delGTTT" "" "Germline" "?" "" "0" "" "" "g.94029567G>T" "" "pathogenic" ""
"0000122356" "1" "90" "1" "94487438" "94487441" "del" "0" "01695" "ABCA4_000502" "g.94487438_94487441del" "" "{PMID:Passerini 2010:19265867}" "" "L1473M-4733delGTTT" "" "Germline" "?" "" "0" "" "" "g.94021882_94021885del" "" "pathogenic" ""
"0000122357" "0" "90" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "42, 120772, 0, 0.0003478" "{PMID:Passerini 2010:19265867}, {PMID:Sodi 2010:20128570}" "" "IVS40+5g>a" "" "Germline" "-" "" "0" "" "" "g.94010795C>T" "" "pathogenic" ""
"0000122358" "0" "90" "1" "94473278" "94473278" "del" "3.25908E-5" "01695" "ABCA4_000392" "g.94473278del" "" "{PMID:Passerini 2010:19265867}, {PMID:Sodi 2010:20128570}" "" "5917delG" "" "Germline" "?" "" "0" "" "" "g.94007722del" "" "pathogenic" ""
"0000122359" "0" "90" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "42, 120772, 0, 0.0003478" "{PMID:Passerini 2010:19265867}" "" "IVS40+5g>a" "" "Germline" "-" "" "0" "" "" "g.94010795C>T" "" "pathogenic" ""
"0000122360" "0" "90" "1" "94461733" "94461733" "del" "0" "01695" "ABCA4_000135" "g.94461733del" "" "{PMID:Passerini 2010:19265867}" "" "6750delA" "" "Germline" "?" "" "0" "" "" "g.93996177del" "" "pathogenic" ""
"0000122361" "0" "50" "1" "94577046" "94577049" "dup" "0" "01695" "ABCA4_000227" "g.94577046_94577049dup" "" "{PMID:Passerini 2010:19265867}" "" "250insCAAA" "found no variant 2nd chromosome" "Germline" "-" "" "0" "" "" "g.94111490_94111493dup" "" "VUS" ""
"0000122362" "0" "50" "1" "94577046" "94577049" "dup" "0" "01695" "ABCA4_000227" "g.94577046_94577049dup" "" "{PMID:Passerini 2010:19265867}" "" "250insCAAA" "found no variant 2nd chromosome" "Germline" "-" "" "0" "" "" "g.94111490_94111493dup" "" "VUS" ""
"0000122363" "0" "70" "1" "94577010" "94577010" "subst" "4.06679E-6" "01695" "ABCA4_000225" "g.94577010T>G" "" "{PMID:Passerini 2010:19265867}" "" "N96H" "" "Germline" "-" "" "0" "" "" "g.94111454T>G" "" "likely pathogenic" ""
"0000122364" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Passerini 2010:19265867}" "" "G1961E" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000122365" "0" "90" "1" "94520793" "94520793" "subst" "8.13292E-6" "01695" "ABCA4_000723" "g.94520793A>T" "1, 121346, 0, 0.000008241" "{PMID:Passerini 2010:19265867}, {PMID:Sodi 2010:20128570}" "" "W821R" "" "Germline" "-" "" "0" "" "" "g.94055237A>T" "" "pathogenic" ""
"0000122366" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "42, 120772, 0, 0.0003478" "{PMID:Passerini 2010:19265867}, {PMID:Sodi 2010:20128570}" "" "IVS40>5g4a" "" "Germline" "?" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic" ""
"0000122367" "0" "70" "1" "94512602" "94512602" "subst" "0.000369717" "01695" "ABCA4_000052" "g.94512602C>T" "59, 120896, 0, 0.000488" "{PMID:Passerini 2010:19265867}, {PMID:Sodi 2010:20128570}" "" "V931M" "" "Germline" "-" "" "0" "" "" "g.94047046C>T" "" "likely pathogenic" ""
"0000122368" "0" "70" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "14, 121282, 0, 0.0001154" "{PMID:Passerini 2010:19265867}, {PMID:Sodi 2010:20128570}" "" "R1108C" "" "Germline" "?" "" "0" "" "" "g.94042767G>A" "" "likely pathogenic" ""
"0000122369" "0" "90" "1" "94522239" "94522239" "subst" "2.03305E-5" "01695" "ABCA4_000736" "g.94522239A>T" "1, 119332, 0, 0.00000838" "{PMID:Passerini 2010:19265867}, {PMID:Sodi 2010:20128570}, {PMID:Testa 2012:22661472}" "" "V767D" "" "Germline" "-" "" "0" "" "" "g.94056683A>T" "" "pathogenic" ""
"0000122370" "0" "70" "1" "94471056" "94471056" "subst" "2.84398E-5" "01695" "ABCA4_000050" "g.94471056G>A" "3, 121402, 0, 0.00002471" "{PMID:Passerini 2010:19265867}, {PMID:Sodi 2010:20128570}, {PMID:Testa 2012:22661472}" "" "R2030X" "" "Germline" "?" "" "0" "" "" "g.94005500G>A" "" "likely pathogenic" ""
"0000122371" "0" "70" "1" "94568627" "94568627" "subst" "0.000422314" "01695" "ABCA4_000207" "g.94568627C>T" "56, 121358, 0, 0.0004614" "{PMID:Passerini 2010:19265867}" "" "G172S" "On its own not significantely found more often in published STGD compared to ExAC (p-value 0.55). However, together with other non-significant variants published related to STGD, they are significantly more often in STGD patients (p-value <0.01)." "Germline" "-" "" "0" "" "" "g.94103071C>T" "" "likely pathogenic" ""
"0000122372" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Passerini 2010:19265867}" "" "G1961E" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000122373" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "24, 119274, 0, 0.0002012" "{PMID:Passerini 2010:19265867}" "" "P1380L" "" "Germline" "-" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic" ""
"0000122374" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Passerini 2010:19265867}" "" "G1961E" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000122375" "0" "70" "1" "94528224" "94528224" "subst" "0" "01695" "ABCA4_000275" "g.94528224C>T" "" "{PMID:Passerini 2010:19265867}" "" "E616K" "" "Germline" "-" "" "0" "" "" "g.94062668C>T" "" "likely pathogenic" ""
"0000122376" "1" "50" "1" "94487436" "94487436" "subst" "2.03047E-5" "01695" "ABCA4_000498" "g.94487436A>G" "" "{PMID:Passerini 2010:19265867}" "" "L1580S-K2172R" "" "Germline" "?" "" "0" "" "" "g.94021880A>G" "" "VUS" ""
"0000122377" "1" "70" "1" "94463631" "94463631" "subst" "0" "01695" "ABCA4_000810" "g.94463631T>C" "" "{PMID:Passerini 2010:19265867}" "" "L1580S-K2172R" "" "Germline" "?" "" "0" "" "" "g.93998075T>C" "" "likely pathogenic" ""
"0000122378" "0" "70" "1" "94577046" "94577049" "dup" "0" "01695" "ABCA4_000227" "g.94577046_94577049dup" "" "{PMID:Passerini 2010:19265867}, {PMID:Sodi 2010:20128570}" "" "250insCAAA" "" "Germline" "-" "" "0" "" "" "g.94111490_94111493dup" "" "likely pathogenic" ""
"0000122379" "0" "90" "1" "94485247" "94485247" "subst" "4.07647E-5" "01695" "ABCA4_000475" "g.94485247C>T" "2, 109176, 0, 0.00001832" "{PMID:Passerini 2010:19265867}, {PMID:Sodi 2010:20128570}" "" "S1696N" "" "Germline" "?" "" "0" "" "" "g.94019691C>T" "" "pathogenic" ""
"0000122380" "0" "70" "1" "94486794" "94486794" "subst" "0" "01695" "ABCA4_000478" "g.94486794A>G" "" "{PMID:Passerini 2010:19265867}" "" "IVS35+2t>c" "" "Germline" "-" "" "0" "" "" "g.94021238A>G" "" "likely pathogenic" ""
"0000122381" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Passerini 2010:19265867}" "" "G1961E" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "pathogenic" ""
"0000122382" "0" "90" "1" "94528132" "94528132" "subst" "4.06835E-6" "01695" "ABCA4_000773" "g.94528132C>T" "1, 120972, 0, 0.000008266" "{PMID:Passerini 2010:19265867}" "" "IVS13+1g>a" "" "Germline" "-" "" "0" "" "" "g.94062576C>T" "" "pathogenic" ""
"0000122383" "0" "90" "1" "94497334" "94497334" "subst" "0" "01695" "ABCA4_000574" "g.94497334C>T" "" "{PMID:Passerini 2010:19265867}" "" "Q1376splice" "" "Germline" "?" "" "0" "" "" "g.94031778C>T" "" "pathogenic" ""
"0000122384" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Passerini 2010:19265867}" "" "L541P-A1038V" "" "Germline" "-" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000122385" "1" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Passerini 2010:19265867}" "" "L541P-A1038V" "" "Germline" "-" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic" ""
"0000122386" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Passerini 2010:19265867}" "" "G1961E" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000122387" "0" "90" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "21, 121302, 0, 0.0001731" "{PMID:Passerini 2010:19265867}" "" "N965S" "" "Germline" "-" "" "0" "" "" "g.94046943T>C" "" "pathogenic" ""
"0000122388" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "42, 120772, 0, 0.0003478" "{PMID:Passerini 2010:19265867}" "" "IVS40+5g>a" "" "Germline" "?" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic" ""
"0000122389" "0" "70" "1" "94508386" "94508386" "subst" "1.62443E-5" "01695" "ABCA4_000642" "g.94508386C>T" "4, 121376, 0, 0.00003296" "{PMID:Passerini 2010:19265867}, {PMID:Sodi 2010:20128570}" "" "E1087K" "" "Germline" "-" "" "0" "" "" "g.94042830C>T" "" "likely pathogenic" ""
"0000122390" "0" "70" "1" "94473266" "94473266" "subst" "8.14677E-6" "01695" "ABCA4_000389" "g.94473266C>T" "1, 120422, 0, 0.000008304" "{PMID:Passerini 2010:19265867}, {PMID:Sodi 2010:20128570}" "" "G1977S" "" "Germline" "?" "" "0" "" "" "g.94007710C>T" "" "likely pathogenic" ""
"0000122391" "0" "70" "1" "94509026" "94509026" "subst" "4.06497E-5" "01695" "ABCA4_000660" "g.94509026G>A" "5, 120988, 0, 0.00004133" "{PMID:Passerini 2010:19265867}" "" "T1019M" "" "Germline" "-" "" "0" "" "" "g.94043470G>A" "" "likely pathogenic" ""
"0000122392" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Passerini 2010:19265867}" "" "G1961E" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000122393" "0" "70" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "14, 120056, 0, 0.0001166" "{PMID:Passerini 2010:19265867}" "" "R212C" "" "Germline" "-" "" "0" "" "" "g.94098928G>A" "" "likely pathogenic" ""
"0000122394" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Passerini 2010:19265867}" "" "G1961E" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000122395" "0" "50" "1" "94577046" "94577049" "dup" "0" "01695" "ABCA4_000227" "g.94577046_94577049dup" "" "{PMID:Stenirri 2008:18652558}" "" "c.250_251insCAAA" "" "Germline" "-" "" "0" "" "" "g.94111490_94111493dup" "" "VUS" ""
"0000122396" "0" "50" "1" "94577010" "94577010" "subst" "1.22004E-5" "01695" "ABCA4_000224" "g.94577010T>C" "3, 119734, 0, 0.00002506" "{PMID:Stenirri 2008:18652558}" "" "c.286A>G" "" "Germline" "-" "" "0" "" "" "g.94111454T>C" "" "VUS" ""
"0000122397" "0" "50" "1" "94577010" "94577010" "subst" "1.22004E-5" "01695" "ABCA4_000224" "g.94577010T>C" "3, 119734, 0, 0.00002506" "{PMID:Stenirri 2008:18652558}" "" "c.286A>G" "" "Germline" "-" "" "0" "" "" "g.94111454T>C" "" "VUS" ""
"0000122398" "0" "50" "1" "94568686" "94568686" "subst" "0.00258122" "01695" "ABCA4_000212" "g.94568686C>T" "290, 120866, 1, 0.002399" "{PMID:Stenirri 2008:18652558}" "" "c.455G>A" "" "Germline" "-" "" "0" "" "" "g.94103130C>T" "" "VUS" ""
"0000122399" "0" "50" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "14, 120056, 0, 0.0001166" "{PMID:Stenirri 2008:18652558}" "" "c.634C>T" "" "Germline" "-" "" "0" "" "" "g.94098928G>A" "" "VUS" ""
"0000122400" "0" "50" "1" "94564430" "94564430" "subst" "0" "01695" "ABCA4_000376" "g.94564430A>T" "" "{PMID:Stenirri 2008:18652558}" "" "c.688T>A" "" "Germline" "-" "" "0" "" "" "g.94098874A>T" "" "VUS" ""
"0000122401" "0" "50" "1" "94564548" "94564548" "subst" "0" "01695" "ABCA4_000197" "g.94564548C>A" "" "{PMID:Stenirri 2008:18652558}" "" "c.571-1G>T" "" "Germline" "-" "" "0" "" "" "g.94098992C>A" "" "VUS" ""
"0000122402" "0" "50" "1" "94564548" "94564548" "subst" "0" "01695" "ABCA4_000197" "g.94564548C>A" "" "{PMID:Stenirri 2008:18652558}" "" "c.571-1G>T" "" "Germline" "-" "" "0" "" "" "g.94098992C>A" "" "VUS" ""
"0000122403" "0" "50" "1" "94564548" "94564548" "subst" "0" "01695" "ABCA4_000197" "g.94564548C>A" "" "{PMID:Stenirri 2008:18652558}" "" "c.571-1G>T" "" "Germline" "-" "" "0" "" "" "g.94098992C>A" "" "VUS" ""
"0000122404" "0" "50" "1" "94564548" "94564548" "subst" "0" "01695" "ABCA4_000197" "g.94564548C>A" "" "{PMID:Stenirri 2008:18652558}" "" "c.571-1G>T" "" "Germline" "-" "" "0" "" "" "g.94098992C>A" "" "VUS" ""
"0000122405" "0" "50" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "13, 121216, 0, 0.0001072" "{PMID:Stenirri 2008:18652558}" "" "c.768G>T" "" "Germline" "-" "" "0" "" "" "g.94098794C>A" "" "VUS" ""
"0000122406" "0" "50" "1" "94546135" "94546135" "subst" "0.000109834" "01695" "ABCA4_000344" "g.94546135C>T" "15, 121362, 0, 0.0001236" "{PMID:Stenirri 2008:18652558}" "" "c.998G>A" "" "Germline" "-" "" "0" "" "" "g.94080579C>T" "" "VUS" ""
"0000122407" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "15, 121412, 0, 0.0001235" "{PMID:Stenirri 2008:18652558}" "" "c.1622T>C" "" "Germline" "-" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000122408" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "15, 121412, 0, 0.0001235" "{PMID:Stenirri 2008:18652558}" "" "c.1622T>C" "" "Germline" "-" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000122409" "0" "90" "1" "94528714" "94528714" "subst" "0" "01695" "ABCA4_000296" "g.94528714G>A" "" "{PMID:Stenirri 2008:18652558}" "" "c.1714C>T" "" "Germline" "-" "" "0" "" "" "g.94063158G>A" "" "pathogenic" ""
"0000122410" "0" "90" "1" "94528714" "94528714" "subst" "0" "01695" "ABCA4_000296" "g.94528714G>A" "" "{PMID:Stenirri 2008:18652558}" "" "c.1714C>T" "" "Germline" "-" "" "0" "" "" "g.94063158G>A" "" "pathogenic" ""
"0000122411" "0" "90" "1" "94528251" "94528251" "subst" "2.84824E-5" "01695" "ABCA4_000281" "g.94528251C>T" "3, 119908, 0, 0.00002502" "{PMID:Stenirri 2008:18652558}" "" "c.1819G>A" "" "Germline" "-" "" "0" "" "" "g.94062695C>T" "" "pathogenic" ""
"0000122412" "0" "50" "1" "94528218" "94528218" "subst" "0" "01695" "ABCA4_000273" "g.94528218C>T" "" "{PMID:Stenirri 2008:18652558}" "" "c.1852G>A" "" "Germline" "-" "" "0" "" "" "g.94062662C>T" "" "VUS" ""
"0000122413" "0" "50" "1" "94528218" "94528218" "subst" "0" "01695" "ABCA4_000273" "g.94528218C>T" "" "{PMID:Stenirri 2008:18652558}" "" "c.1852G>A" "" "Germline" "-" "" "0" "" "" "g.94062662C>T" "" "VUS" ""
"0000122414" "0" "50" "1" "94526296" "94526296" "subst" "1.64555E-5" "01695" "ABCA4_000768" "g.94526296G>A" "1, 96614, 0, 0.00001035" "{PMID:Stenirri 2008:18652558}" "" "c.1957C>T" "" "Germline" "-" "" "0" "" "" "g.94060740G>A" "" "VUS" ""
"0000122415" "0" "50" "1" "94526154" "94526154" "subst" "4.06441E-6" "01695" "ABCA4_000752" "g.94526154C>T" "" "{PMID:Stenirri 2008:18652558}" "" "c.2099G>A" "" "Germline" "-" "" "0" "" "" "g.94060598C>T" "" "VUS" ""
"0000122416" "0" "50" "1" "94520793" "94520793" "subst" "8.13292E-6" "01695" "ABCA4_000723" "g.94520793A>T" "1, 121346, 0, 0.000008241" "{PMID:Stenirri 2008:18652558}" "" "c.2461T>A" "" "Germline" "-" "" "0" "" "" "g.94055237A>T" "" "VUS" ""
"0000122417" "0" "50" "1" "94512484" "94512484" "subst" "0" "01695" "ABCA4_000680" "g.94512484G>A" "" "{PMID:Stenirri 2008:18652558}" "" "c.3909C>T" "" "Germline" "-" "" "0" "" "" "g.94046928G>A" "" "VUS" ""
"0000122418" "0" "50" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "173, 121304, 0, 0.001426" "{PMID:Stenirri 2008:18652558}" "" "c.3113C>T" "" "Germline" "-" "" "0" "" "" "g.94043413G>A" "" "VUS" ""
"0000122419" "0" "50" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "173, 121304, 0, 0.001426" "{PMID:Stenirri 2008:18652558}" "" "c.3113C>T" "" "Germline" "-" "" "0" "" "" "g.94043413G>A" "" "VUS" ""
"0000122420" "0" "50" "1" "94508350" "94508350" "subst" "0" "01695" "ABCA4_000633" "g.94508350A>G" "" "{PMID:Stenirri 2008:18652558}" "" "c.3295T>C" "" "Germline" "-" "" "0" "" "" "g.94042794A>G" "" "VUS" ""
"0000122421" "0" "50" "1" "94508386" "94508386" "subst" "1.62443E-5" "01695" "ABCA4_000642" "g.94508386C>T" "4, 121376, 0, 0.00003296" "{PMID:Stenirri 2008:18652558}" "" "c.3259G>A" "" "Germline" "-" "" "0" "" "" "g.94042830C>T" "" "VUS" ""
"0000122422" "0" "50" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "14, 121282, 0, 0.0001154" "{PMID:Stenirri 2008:18652558}" "" "c.3322C>T" "" "Germline" "-" "" "0" "" "" "g.94042767G>A" "" "VUS" ""
"0000122423" "0" "50" "1" "94496008" "94496008" "subst" "2.03056E-5" "01695" "ABCA4_000148" "g.94496008C>T" "3, 121360, 0, 0.00002472" "{PMID:Stenirri 2008:18652558}" "" "c.4328G>A" "" "Germline" "-" "" "0" "" "" "g.94030452C>T" "" "VUS" ""
"0000122424" "0" "50" "1" "94497495" "94497495" "del" "0" "01695" "ABCA4_000584" "g.94497495del" "" "{PMID:Stenirri 2008:18652558}" "" "c.3970delG" "" "Germline" "-" "" "0" "" "" "g.94031939del" "" "VUS" ""
"0000122425" "0" "50" "1" "94495123" "94495123" "subst" "0.000117967" "01695" "ABCA4_000544" "g.94495123G>T" "" "{PMID:Stenirri 2008:18652558}" "" "c.4417C>A" "" "Germline" "-" "" "0" "" "" "g.94029567G>T" "" "VUS" ""
"0000122426" "0" "50" "1" "94495123" "94495123" "subst" "0.000117967" "01695" "ABCA4_000544" "g.94495123G>T" "" "{PMID:Stenirri 2008:18652558}" "" "c.4417C>A" "" "Germline" "-" "" "0" "" "" "g.94029567G>T" "" "VUS" ""
"0000122427" "0" "50" "1" "94495009" "94495009" "dup" "0" "01695" "ABCA4_000087" "g.94495009dup" "" "{PMID:Stenirri 2008:18652558}" "" "c.4587_4538insC" "" "Germline" "-" "" "0" "" "" "g.94029453dup" "" "VUS" ""
"0000122428" "0" "50" "1" "94495009" "94495009" "dup" "0" "01695" "ABCA4_000087" "g.94495009dup" "" "{PMID:Stenirri 2008:18652558}" "" "c.4587_4538insC" "" "Germline" "-" "" "0" "" "" "g.94029453dup" "" "VUS" ""
"0000122429" "0" "50" "1" "94487436" "94487440" "delins" "0" "01695" "ABCA4_000501" "g.94487436_94487440delinsGG" "" "{PMID:Stenirri 2008:18652558}" "" "c.4735delTTTTTinsCC" "" "Germline" "-" "" "0" "" "" "g.94021880_94021884delinsGG" "" "VUS" ""
"0000122430" "0" "50" "1" "94487251" "94487251" "subst" "2.85679E-5" "01695" "ABCA4_000490" "g.94487251G>T" "3, 113672, 0, 0.00002639" "{PMID:Stenirri 2008:18652558}" "" "c.4793C>A" "" "Germline" "-" "" "0" "" "" "g.94021695G>T" "" "VUS" ""
"0000122431" "0" "50" "1" "94486858" "94486858" "subst" "0" "01695" "ABCA4_000482" "g.94486858A>C" "" "{PMID:Stenirri 2008:18652558}" "" "c.4956T>G" "" "Germline" "-" "" "0" "" "" "g.94021302A>C" "" "VUS" ""
"0000122432" "0" "50" "1" "94486794" "94486794" "subst" "0" "01695" "ABCA4_000478" "g.94486794A>G" "" "{PMID:Stenirri 2008:18652558}" "" "c.5018+2T>C" "" "Germline" "-" "" "0" "" "" "g.94021238A>G" "" "VUS" ""
"0000122433" "0" "50" "1" "94485247" "94485247" "subst" "4.07647E-5" "01695" "ABCA4_000475" "g.94485247C>T" "2, 109176, 0, 0.00001832" "{PMID:Stenirri 2008:18652558}" "" "c.5087G>A" "" "Germline" "-" "" "0" "" "" "g.94019691C>T" "" "VUS" ""
"0000122434" "0" "50" "1" "94481307" "94481307" "subst" "0" "01695" "ABCA4_000452" "g.94481307A>G" "" "{PMID:Stenirri 2008:18652558}" "" "c.5300T>C" "" "Germline" "-" "" "0" "" "" "g.94015751A>G" "" "VUS" ""
"0000122435" "0" "50" "1" "94480241" "94480241" "subst" "7.71705E-5" "01695" "ABCA4_000446" "g.94480241G>A" "14, 121408, 0, 0.0001153" "{PMID:Stenirri 2008:18652558}" "" "c.5318C>T" "" "Germline" "-" "" "0" "" "" "g.94014685G>A" "" "VUS" ""
"0000122436" "0" "50" "1" "94480241" "94480241" "subst" "7.71705E-5" "01695" "ABCA4_000446" "g.94480241G>A" "14, 121408, 0, 0.0001153" "{PMID:Stenirri 2008:18652558}" "" "c.5318C>T" "" "Germline" "-" "" "0" "" "" "g.94014685G>A" "" "VUS" ""
"0000122437" "0" "50" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "42, 120772, 0, 0.0003478" "{PMID:Stenirri 2008:18652558}" "" "c.5714+5G>A" "" "Germline" "-" "" "0" "" "" "g.94010795C>T" "" "VUS" ""
"0000122438" "0" "50" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "42, 120772, 0, 0.0003478" "{PMID:Stenirri 2008:18652558}" "" "c.5714+5G>A" "" "Germline" "-" "" "0" "" "" "g.94010795C>T" "" "VUS" ""
"0000122439" "0" "50" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "42, 120772, 0, 0.0003478" "{PMID:Stenirri 2008:18652558}" "" "c.5714+5G>A" "" "Germline" "-" "" "0" "" "" "g.94010795C>T" "" "VUS" ""
"0000122440" "0" "50" "1" "94473855" "94473855" "del" "4.06105E-6" "01695" "ABCA4_000404" "g.94473855del" "" "{PMID:Stenirri 2008:18652558}" "" "c.5836-2delA" "" "Germline" "-" "" "0" "" "" "g.94008299del" "" "VUS" ""
"0000122441" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Stenirri 2008:18652558}" "" "c.5882G>A" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000122442" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Stenirri 2008:18652558}" "" "c.5882G>A" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000122443" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Stenirri 2008:18652558}" "" "c.5882G>A" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000122444" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Stenirri 2008:18652558}" "" "c.5882G>A" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000122445" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Stenirri 2008:18652558}" "" "c.5882G>A" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000122446" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Stenirri 2008:18652558}" "" "c.5882G>A" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000122447" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Stenirri 2008:18652558}" "" "c.5882G>A" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000122448" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Stenirri 2008:18652558}" "" "c.5882G>A" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000122449" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Stenirri 2008:18652558}" "" "c.5882G>A" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000122450" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Stenirri 2008:18652558}" "" "c.5882G>A" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000122451" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Stenirri 2008:18652558}" "" "c.5882G>A" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000122452" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Stenirri 2008:18652558}" "" "c.5882G>A" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000122453" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Stenirri 2008:18652558}" "" "c.5882G>A" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000122454" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Stenirri 2008:18652558}" "" "c.5882G>A" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000122455" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Stenirri 2008:18652558}" "" "c.5882G>A" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000122456" "0" "50" "1" "94473274" "94473274" "subst" "0" "01695" "ABCA4_000391" "g.94473274T>C" "" "{PMID:Stenirri 2008:18652558}" "" "c.5920A>G" "" "Germline" "-" "" "0" "" "" "g.94007718T>C" "" "VUS" ""
"0000122457" "0" "50" "1" "94471022" "94471022" "subst" "0" "01695" "ABCA4_000790" "g.94471022C>T" "" "{PMID:Stenirri 2008:18652558}" "" "c.6122G>A" "" "Germline" "-" "" "0" "" "" "g.94005466C>T" "" "VUS" ""
"0000122458" "0" "50" "1" "94467476" "94467476" "subst" "0" "01695" "ABCA4_000781" "g.94467476C>T" "" "{PMID:Stenirri 2008:18652558}" "" "c.6220G>A" "" "Germline" "-" "" "0" "" "" "g.94001920C>T" "" "VUS" ""
"0000122459" "0" "50" "1" "94466433" "94466434" "delins" "0" "01695" "ABCA4_000820" "g.94466433_94466434delinsA" "" "{PMID:Stenirri 2008:18652558}" "" "c.6436_6437delGCinsT" "" "Germline" "-" "" "0" "" "" "g.94000877_94000878delinsA" "" "VUS" ""
"0000122460" "3" "70" "1" "94480146" "94480146" "subst" "2.84273E-5" "01695" "ABCA4_000122" "g.94480146T>C" "2, 121410, 0, 0.00001647" "{PMID:Riveiro-Alvarez 2008:18334942}" "" "c.5413A>G" "" "Germline" "?" "" "0" "" "" "g.94014590T>C" "" "likely pathogenic" ""
"0000122461" "0" "50" "1" "94480146" "94480146" "subst" "2.84273E-5" "01695" "ABCA4_000122" "g.94480146T>C" "2, 121410, 0, 0.00001647" "{PMID:Riveiro-Alvarez 2008:18334942}" "" "c.5413A>G" "found no variant 2nd chromosome" "Germline" "-" "" "0" "" "" "g.94014590T>C" "" "VUS" ""
"0000122462" "3" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Cella 2009:19217903}" "" "G1961E" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000122463" "3" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Cella 2009:19217903}" "" "G1961E" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000122464" "3" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Cella 2009:19217903}" "" "G1961E" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000122465" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Cella 2009:19217903}" "" "L541P/A1038V" "" "Germline" "-" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000122466" "1" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Cella 2009:19217903}" "" "L541P/A1038V" "" "Germline" "-" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic" ""
"0000122467" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Cella 2009:19217903}" "" "G1961E" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000122468" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Cella 2009:19217903}" "" "L541P/A1038V" "" "Germline" "-" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000122469" "1" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Cella 2009:19217903}" "" "L541P/A1038V" "" "Germline" "-" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic" ""
"0000122470" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Cella 2009:19217903}" "" "G1961E" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000122471" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Cella 2009:19217903}" "" "L541P/A1038V" "" "Germline" "-" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000122472" "1" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Cella 2009:19217903}" "" "L541P/A1038V" "" "Germline" "-" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic" ""
"0000122473" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Cella 2009:19217903}" "" "G1961E" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000122474" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Cella 2009:19217903}" "" "L541P/A1038V" "" "Germline" "-" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000122475" "1" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Cella 2009:19217903}" "" "L541P/A1038V" "" "Germline" "-" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic" ""
"0000122476" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Cella 2009:19217903}" "" "G1961E" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000122477" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Cella 2009:19217903}" "" "L541P/A1038V" "" "Germline" "-" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000122478" "1" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Cella 2009:19217903}" "" "L541P/A1038V" "" "Germline" "-" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic" ""
"0000122479" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Cella 2009:19217903}" "" "G1961E" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000122480" "0" "70" "1" "94510164" "94510164" "subst" "1.62441E-5" "01695" "ABCA4_000144" "g.94510164C>T" "2, 121386, 0, 0.00001648" "{PMID:Cella 2009:19217903}, {PMID:Nõupuu 2014:25301883}" "" "IVS20+ 5G>A" "" "Germline" "-" "" "0" "" "" "g.94044608C>T" "" "likely pathogenic" ""
"0000122481" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Cella 2009:19217903}, {PMID:Nõupuu 2014:25301883}" "" "G1961E" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000122482" "0" "70" "1" "94510164" "94510164" "subst" "1.62441E-5" "01695" "ABCA4_000144" "g.94510164C>T" "2, 121386, 0, 0.00001648" "{PMID:Cella 2009:19217903}, {PMID:Nõupuu 2014:25301883}" "" "IVS20+ 5G>A" "" "Germline" "-" "" "0" "" "" "g.94044608C>T" "" "likely pathogenic" ""
"0000122483" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Cella 2009:19217903}, {PMID:Nõupuu 2014:25301883}" "" "G1961E" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000122484" "0" "70" "1" "94528162" "94528162" "subst" "0" "01695" "ABCA4_000266" "g.94528162C>A" "" "{PMID:Cella 2009:19217903}" "" "Q636H" "" "Germline" "-" "" "0" "" "" "g.94062606C>A" "" "likely pathogenic" ""
"0000122485" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Cella 2009:19217903}" "" "G1961E" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000122486" "0" "70" "1" "94467467" "94467467" "subst" "4.06164E-6" "01695" "ABCA4_000780" "g.94467467G>A" "" "{PMID:Cella 2009:19217903}" "" "R2077W" "" "Germline" "-" "" "0" "" "" "g.94001911G>A" "" "likely pathogenic" ""
"0000122487" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Cella 2009:19217903}" "" "G1961E" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000122488" "0" "70" "1" "94502756" "94502756" "subst" "0.000422575" "01695" "ABCA4_000032" "g.94502756G>A" "37, 121234, 1, 0.0003052" "{PMID:Cella 2009:19217903}" "" "T1253M" "On its own not significantely found more often in published STGD compared to ExAC (p-value 0.14). However, together with other non-significant variants published related to STGD, they are significantly more often in STGD patients (p-value <0.01)." "Germline" "-" "" "0" "" "" "g.94037200G>A" "" "likely pathogenic" ""
"0000122489" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Cella 2009:19217903}" "" "G1961E" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000122490" "0" "70" "1" "94577135" "94577135" "subst" "2.43718E-5" "01695" "ABCA4_000240" "g.94577135C>T" "2, 121210, 0, 0.0000165" "{PMID:Cella 2009:19217903}" "" "C54Y" "" "Germline" "-" "" "0" "" "" "g.94111579C>T" "" "likely pathogenic" ""
"0000122491" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Cella 2009:19217903}" "" "G1961E" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "pathogenic" ""
"0000122492" "0" "70" "1" "94490550" "94490550" "subst" "0.000105588" "01695" "ABCA4_000523" "g.94490550C>T" "11, 121406, 0, 0.00009061" "{PMID:Cella 2009:19217903}" "" "D1532N" "" "Germline" "-" "" "0" "" "" "g.94024994C>T" "" "likely pathogenic" ""
"0000122493" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Cella 2009:19217903}" "" "G1961E" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000122494" "21" "50" "1" "94564463" "94564463" "subst" "0" "01695" "ABCA4_000381" "g.94564463T>A" "" "{PMID:Xi 2009:19352439}" "" "c.655A>T" "" "Germline" "-" "" "0" "" "" "g.94098907T>A" "" "VUS" ""
"0000122495" "11" "90" "1" "94481292" "94481292" "subst" "0" "01695" "ABCA4_000450" "g.94481292T>A" "" "{PMID:Xi 2009:19352439}" "" "c.5312+3A>T" "" "Germline" "yes" "" "0" "" "" "g.94015736T>A" "" "pathogenic" ""
"0000122496" "21" "50" "1" "94564463" "94564463" "subst" "0" "01695" "ABCA4_000381" "g.94564463T>A" "" "{PMID:Xi 2009:19352439}" "" "c.655A>T" "" "Germline" "-" "" "0" "" "" "g.94098907T>A" "" "VUS" ""
"0000122497" "11" "90" "1" "94481292" "94481292" "subst" "0" "01695" "ABCA4_000450" "g.94481292T>A" "" "{PMID:Xi 2009:19352439}" "" "c.5312+3A>T" "" "Germline" "yes" "" "0" "" "" "g.94015736T>A" "" "pathogenic" ""
"0000122498" "0" "70" "1" "94577010" "94577010" "subst" "1.22004E-5" "01695" "ABCA4_000224" "g.94577010T>C" "3, 119734, 0, 0.00002506" "{PMID:Maia-Lopes 2009:19365591}" "" "c.286A>G" "" "Germline" "-" "" "0" "" "" "g.94111454T>C" "" "likely pathogenic" ""
"0000122499" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "24, 119274, 0, 0.0002012" "{PMID:Maia-Lopes 2009:19365591}" "" "c.4139C>T" "" "Germline" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic" ""
"0000122500" "0" "70" "1" "94577010" "94577010" "subst" "1.22004E-5" "01695" "ABCA4_000224" "g.94577010T>C" "3, 119734, 0, 0.00002506" "{PMID:Maia-Lopes 2009:19365591}" "" "c.286A>G" "" "Germline" "-" "" "0" "" "" "g.94111454T>C" "" "likely pathogenic" ""
"0000122501" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "24, 119274, 0, 0.0002012" "{PMID:Maia-Lopes 2009:19365591}" "" "c.4139C>T" "" "Germline" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic" ""
"0000122502" "0" "70" "1" "94577010" "94577010" "subst" "1.22004E-5" "01695" "ABCA4_000224" "g.94577010T>C" "3, 119734, 0, 0.00002506" "{PMID:Maia-Lopes 2009:19365591}" "" "c.286A>G" "" "Germline" "-" "" "0" "" "" "g.94111454T>C" "" "likely pathogenic" ""
"0000122503" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "24, 119274, 0, 0.0002012" "{PMID:Maia-Lopes 2009:19365591}" "" "c.4139C>T" "" "Germline" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic" ""
"0000122504" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "6, 119038, 0, 0.0000504" "{PMID:Maia-Lopes 2009:19365591}" "" "c.1804C>T" "" "Germline" "-" "" "0" "" "" "g.94062710G>A" "" "pathogenic" ""
"0000122505" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "42, 120772, 0, 0.0003478" "{PMID:Maia-Lopes 2009:19365591}" "" "c.IVS+5G>A" "" "Germline" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic" ""
"0000122506" "3" "90" "1" "94508435" "94508436" "dup" "0" "01695" "ABCA4_000998" "g.94508435_94508436dup" "" "{PMID:Maia-Lopes 2009:19365591}" "" "c.3211_3212insGT" "" "Germline" "" "" "0" "" "" "g.94042879_94042880dup" "" "pathogenic" ""
"0000122507" "0" "90" "1" "94586570" "94586570" "subst" "4.06101E-6" "01695" "ABCA4_000154" "g.94586570A>G" "1, 121404, 0, 0.000008237" "{PMID:Maia-Lopes 2009:19365591}" "" "c.32T>C" "" "Germline" "-" "" "0" "" "" "g.94121014A>G" "" "pathogenic" ""
"0000122508" "2" "70" "1" "94586601" "94586601" "subst" "8.12156E-6" "01695" "ABCA4_000264" "g.94586601T>C" "" "{PMID:Maia-Lopes 2009:19365591}" "" "c.[1A>G]+[6089G>A]" "" "Germline" "" "" "0" "" "" "g.94121045T>C" "" "likely pathogenic" ""
"0000122509" "1" "70" "1" "94471055" "94471055" "subst" "0.00035346" "01695" "ABCA4_000029" "g.94471055C>T" "" "{PMID:Maia-Lopes 2009:19365591}" "" "c.[1A>G]+[6089G>A]" "" "Germline" "" "" "0" "" "" "g.94005499C>T" "" "likely pathogenic" ""
"0000122510" "0" "50" "1" "94546265" "94546265" "subst" "2.04063E-5" "01695" "ABCA4_000355" "g.94546265G>A" "4, 120876, 0, 0.00003309" "{PMID:Maia-Lopes 2009:19365591}" "" "c.868C>T" "" "Germline" "-" "" "0" "" "" "g.94080709G>A" "" "VUS" ""
"0000122511" "0" "50" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "26, 121404, 0, 0.0002142" "{PMID:Maia-Lopes 2009:19365591}" "" "c.6079C>T" "" "Germline" "-" "" "0" "" "" "g.94005509G>A" "" "VUS" ""
"0000122512" "0" "30" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "173, 121304, 0, 0.001426" "{PMID:Maia-Lopes 2009:19365591}" "" "c.3113C>T" "" "Germline" "-" "" "0" "" "" "g.94043413G>A" "" "likely benign" ""
"0000122513" "0" "30" "1" "94505604" "94505604" "subst" "0.00645586" "01695" "ABCA4_000092" "g.94505604A>C" "879, 64452, 44, 0.01364" "{PMID:Maia-Lopes 2009:19365591}" "" "c.3602T>G" "" "Germline" "" "" "0" "" "" "g.94040048A>C" "" "likely benign" ""
"0000122514" "3" "90" "1" "94586600" "94586600" "subst" "0" "01695" "ABCA4_000263" "g.94586600A>G" "2, 121346, 0, 0.00001648" "{PMID:Maia-Lopes 2009:19365591}" "" "c.2TG" "" "pathogenic" ""
"0000122515" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Maia-Lopes 2009:19365591}" "" "c.5882G>A" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "pathogenic" ""
"0000122516" "0" "70" "1" "94508435" "94508436" "dup" "0" "01695" "ABCA4_000998" "g.94508435_94508436dup" "" "{PMID:Maia-Lopes 2009:19365591}" "" "c.3211_3212insGT" "" "Germline" "" "" "0" "" "" "g.94042879_94042880dup" "" "likely pathogenic" ""
"0000122517" "1" "50" "1" "94486888" "94486888" "subst" "3.65548E-5" "01695" "ABCA4_000137" "g.94486888G>C" "" "{PMID:Maia-Lopes 2009:19365591}" "" "c.[4926C>G]+[5041_5055del]" "" "Germline" "-" "" "0" "" "" "g.94021332G>C" "" "VUS" ""
"0000122518" "1" "70" "1" "94485279" "94485293" "del" "0" "01695" "ABCA4_000476" "g.94485279_94485293del" "" "{PMID:Maia-Lopes 2009:19365591}" "" "c.[4926C>G]+[5041_5055del]" "" "Germline" "-" "" "0" "" "" "g.94019723_94019737del" "" "likely pathogenic" ""
"0000122519" "0" "70" "1" "94586570" "94586570" "subst" "4.06101E-6" "01695" "ABCA4_000154" "g.94586570A>G" "1, 121404, 0, 0.000008237" "{PMID:Maia-Lopes 2009:19365591}" "" "c.32T>C" "" "Germline" "" "" "0" "" "" "g.94121014A>G" "" "likely pathogenic" ""
"0000122520" "0" "70" "1" "94487455" "94487455" "subst" "4.06128E-6" "01695" "ABCA4_000504" "g.94487455C>A" "" "{PMID:Maia-Lopes 2009:19365591}" "" "c.4720G>T" "" "Germline" "-" "" "0" "" "" "g.94021899C>A" "" "likely pathogenic" ""
"0000122521" "0" "90" "1" "94512602" "94512602" "subst" "0.000369717" "01695" "ABCA4_000052" "g.94512602C>T" "59, 120896, 0, 0.000488" "{PMID:Maia-Lopes 2009:19365591}" "" "c.2791G>A" "" "Germline" "" "" "0" "" "" "g.94047046C>T" "" "pathogenic" ""
"0000122522" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Maia-Lopes 2009:19365591}" "" "c.5882G>A" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000122523" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Maia-Lopes 2009:19365591}" "" "c.5882G>A" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000122524" "0" "90" "1" "94497427" "94497428" "del" "0" "01695" "ABCA4_000580" "g.94497427_94497428del" "" "{PMID:Maia-Lopes 2009:19365591}" "" "c.4036_4037delAC" "" "Germline" "-" "" "0" "" "" "g.94031871_94031872del" "" "pathogenic" ""
"0000122525" "0" "90" "1" "94574175" "94574175" "subst" "0" "01695" "ABCA4_000214" "g.94574175G>A" "" "{PMID:Maia-Lopes 2009:19365591}" "" "c.400C>T" "" "Germline" "" "" "0" "" "" "g.94108619G>A" "" "pathogenic" ""
"0000122526" "0" "90" "1" "94497427" "94497428" "del" "0" "01695" "ABCA4_000580" "g.94497427_94497428del" "" "{PMID:Maia-Lopes 2009:19365591}" "" "c.4036_4037delAC" "" "Germline" "-" "" "0" "" "" "g.94031871_94031872del" "" "pathogenic" ""
"0000122527" "0" "90" "1" "94574175" "94574175" "subst" "0" "01695" "ABCA4_000214" "g.94574175G>A" "" "{PMID:Maia-Lopes 2009:19365591}" "" "c.400C>T" "" "Germline" "" "" "0" "" "" "g.94108619G>A" "" "pathogenic" ""
"0000122528" "0" "50" "1" "94528142" "94528142" "subst" "0.00153303" "01695" "ABCA4_000125" "g.94528142A>C" "163, 121098, 1, 0.001346" "{PMID:Maia-Lopes 2009:19365591}" "" "c.1928T>G" "" "Germline" "-" "" "0" "" "" "g.94062586A>C" "" "VUS" ""
"0000122529" "0" "50" "1" "94586570" "94586570" "subst" "4.06101E-6" "01695" "ABCA4_000154" "g.94586570A>G" "1, 121404, 0, 0.000008237" "{PMID:Maia-Lopes 2009:19365591}" "" "c.32T>C" "" "Germline" "-" "" "0" "" "" "g.94121014A>G" "" "VUS" ""
"0000122530" "0" "70" "1" "94586570" "94586570" "subst" "4.06101E-6" "01695" "ABCA4_000154" "g.94586570A>G" "1, 121404, 0, 0.000008237" "{PMID:Maia-Lopes 2009:19365591}" "" "c.32T>C" "" "Germline" "-" "" "0" "" "" "g.94121014A>G" "" "likely pathogenic" ""
"0000122531" "0" "70" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "6, 119038, 0, 0.0000504" "{PMID:Maia-Lopes 2009:19365591}" "" "c.1804CA" "" "likely pathogenic" ""
"0000122532" "1" "70" "1" "94512602" "94512602" "subst" "0.000369717" "01695" "ABCA4_000052" "g.94512602C>T" "" "{PMID:Maia-Lopes 2009:19365591}" "" "c.[2791G>A]+[4926C>G]" "" "Germline" "-" "" "0" "" "" "g.94047046C>T" "" "likely pathogenic" ""
"0000122533" "1" "70" "1" "94486888" "94486888" "subst" "3.65548E-5" "01695" "ABCA4_000137" "g.94486888G>C" "" "{PMID:Maia-Lopes 2009:19365591}" "" "c.[2791G>A]+[4926C>G]" "" "Germline" "-" "" "0" "" "" "g.94021332G>C" "" "likely pathogenic" ""
"0000122534" "1" "50" "1" "94486888" "94486888" "subst" "3.65548E-5" "01695" "ABCA4_000137" "g.94486888G>C" "" "{PMID:Maia-Lopes 2009:19365591}" "" "c.[4926C>G]+[5041_5055del]" "" "Germline" "" "" "0" "" "" "g.94021332G>C" "" "VUS" ""
"0000122535" "1" "70" "1" "94485279" "94485293" "del" "0" "01695" "ABCA4_000476" "g.94485279_94485293del" "" "{PMID:Maia-Lopes 2009:19365591}" "" "c.[4926C>G]+[5041_5055del]" "" "Germline" "" "" "0" "" "" "g.94019723_94019737del" "" "likely pathogenic" ""
"0000122536" "0" "30" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Genead 2009:19578016}" "" "gly1961glu" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "likely benign" ""
"0000122537" "0" "70" "1" "94505604" "94505604" "subst" "0.00645586" "01695" "ABCA4_000092" "g.94505604A>C" "879, 64452, 44, 0.01364" "{PMID:Genead 2009:19578016}" "" "leu1201arg" "" "Germline" "?" "" "0" "" "" "g.94040048A>C" "" "likely pathogenic" ""
"0000122538" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Genead 2009:19578016}" "" "gly1961glu" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "pathogenic" ""
"0000122539" "0" "70" "1" "94578583" "94578583" "del" "0" "01695" "ABCA4_000248" "g.94578583del" "" "{PMID:Genead 2009:19578016}" "" "1bpdel(T) Co 36 which creates stop at Co 38" "" "Germline" "?" "" "0" "" "" "g.94113027del" "" "likely pathogenic" ""
"0000122540" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Genead 2009:19578016}" "" "gly1961glu" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000122541" "0" "70" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Genead 2009:19578016}" "" "IVS38-10T_C" "" "Germline" "?" "" "0" "" "" "g.94011395A>G" "" "likely pathogenic" ""
"0000122542" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Genead 2009:19578016}" "" "gly1961glu" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000122543" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Genead 2009:19578016}" "" "gly1961glu" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000122544" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "24, 119274, 0, 0.0002012" "{PMID:Genead 2009:19578016}" "" "pro1380leu" "" "Germline" "?" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic" ""
"0000122545" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Genead 2009:19578016}" "" "gly1961glu" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000122546" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "24, 119274, 0, 0.0002012" "{PMID:Genead 2009:19578016}" "" "pro1380leu" "" "Germline" "?" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic" ""
"0000122547" "3" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Genead 2009:19578016}" "" "gly1961glu" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000122548" "0" "50" "1" "94568581" "94568581" "subst" "3.65458E-5" "01695" "ABCA4_000202" "g.94568581C>T" "6, 121410, 0, 0.00004942" "{PMID:Aguirre-Lamban 2009:19959634}" "" "c.560G>A" "" "Germline" "-" "" "0" "" "" "g.94103025C>T" "" "VUS" ""
"0000122549" "0" "50" "1" "94568581" "94568581" "subst" "3.65458E-5" "01695" "ABCA4_000202" "g.94568581C>T" "6, 121410, 0, 0.00004942" "{PMID:Aguirre-Lamban 2009:19959634}" "" "c.560G>A" "" "Germline" "-" "" "0" "" "" "g.94103025C>T" "" "VUS" ""
"0000122550" "0" "50" "1" "94564418" "94564418" "subst" "0" "01695" "ABCA4_000375" "g.94564418G>A" "" "{PMID:Aguirre-Lamban 2009:19959634}, {PMID:Riveiro-Alvarez 2013:23755871}" "" "c.700C>T" "" "Germline" "-" "" "0" "" "" "g.94098862G>A" "" "VUS" ""
"0000122551" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "30, 121388, 0, 0.0002471" "{PMID:Aguirre-Lamban 2009:19959634}, {PMID:Riveiro-Alvarez 2013:23755871}" "" "c.3386G>T" "" "Germline" "?" "" "0" "" "" "g.94041345C>A" "" "pathogenic" ""
"0000122552" "0" "90" "1" "94546104" "94546104" "dup" "0" "01695" "ABCA4_000339" "g.94546104dup" "" "{PMID:Aguirre-Lamban 2009:19959634}, {PMID:Riveiro-Alvarez 2013:23755871}" "" "c.1029_1030insT" "" "Germline" "-" "" "0" "" "" "g.94080548dup" "" "pathogenic" ""
"0000122553" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Aguirre-Lamban 2009:19959634}, {PMID:Riveiro-Alvarez 2013:23755871}" "" "c.5582G>A" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "pathogenic" ""
"0000122554" "0" "50" "1" "94522254" "94522254" "subst" "0" "01695" "ABCA4_000742" "g.94522254G>T" "" "{PMID:Aguirre-Lamban 2009:19959634}, {PMID:Riveiro-Alvarez 2013:23755871}" "" "c.2285C>A" "" "Germline" "-" "" "0" "" "" "g.94056698G>T" "" "VUS" ""
"0000122555" "0" "50" "1" "94512532" "94512532" "subst" "0" "01695" "ABCA4_000691" "g.94512532T>G" "" "{PMID:Aguirre-Lamban 2009:19959634}, {PMID:Riveiro-Alvarez 2013:23755871}" "" "c.2861A>C" "" "Germline" "-" "" "0" "" "" "g.94046976T>G" "" "VUS" ""
"0000122556" "0" "50" "1" "94473266" "94473266" "subst" "8.14677E-6" "01695" "ABCA4_000389" "g.94473266C>T" "1, 120422, 0, 0.000008304" "{PMID:Aguirre-Lamban 2009:19959634}, {PMID:Riveiro-Alvarez 2013:23755871}" "" "c.5929G>A" "" "Germline" "-" "" "0" "" "" "g.94007710C>T" "" "VUS" ""
"0000122557" "0" "90" "1" "94506960" "94506960" "subst" "0" "01695" "ABCA4_000629" "g.94506960T>C" "" "{PMID:Aguirre-Lamban 2009:19959634}, {PMID:Riveiro-Alvarez 2013:23755871}" "" "c.3329-2A>T" "" "Germline" "?" "" "0" "" "" "g.94041404T>C" "" "pathogenic" ""
"0000122558" "0" "50" "1" "94497519" "94497519" "subst" "0" "01695" "ABCA4_000585" "g.94497519G>A" "" "{PMID:Aguirre-Lamban 2009:19959634}" "" "c.3943C>T" "" "Germline" "-" "" "0" "" "" "g.94031963G>A" "" "VUS" ""
"0000122559" "0" "50" "1" "94508435" "94508436" "dup" "0" "01695" "ABCA4_000998" "g.94508435_94508436dup" "" "{PMID:Aguirre-Lamban 2009:19959634}, {PMID:Riveiro-Alvarez 2013:23755871}" "" "c.3211_3212insGT" "" "Germline" "-" "" "0" "" "" "g.94042879_94042880dup" "" "VUS" ""
"0000122560" "0" "90" "1" "94495009" "94495009" "del" "0" "01695" "ABCA4_000534" "g.94495009del" "" "{PMID:Aguirre-Lamban 2009:19959634}, {PMID:Riveiro-Alvarez 2013:23755871}" "" "c.4537delC" "" "Germline" "?" "" "0" "" "" "g.94029453del" "" "pathogenic" ""
"0000122561" "0" "50" "1" "94487440" "94487440" "del" "0" "01695" "ABCA4_000499" "g.94487440del" "" "{PMID:Aguirre-Lamban 2009:19959634}, {PMID:Riveiro-Alvarez 2013:23755871}" "" "c.4739delT" "" "Germline" "-" "" "0" "" "" "g.94021884del" "" "VUS" ""
"0000122562" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "6, 119038, 0, 0.0000504" "{PMID:Aguirre-Lamban 2009:19959634}, {PMID:Riveiro-Alvarez 2013:23755871}" "" "c.1804C>T" "" "Germline" "?" "" "0" "" "" "g.94062710G>A" "" "pathogenic" ""
"0000122563" "0" "50" "1" "94485162" "94485162" "subst" "0" "01695" "ABCA4_000467" "g.94485162C>A" "" "{PMID:Aguirre-Lamban 2009:19959634}, {PMID:Riveiro-Alvarez 2013:23755871}" "" "c.5172G>T" "" "Germline" "-" "" "0" "" "" "g.94019606C>A" "" "VUS" ""
"0000122564" "0" "70" "1" "94495083" "94495083" "subst" "0.000124542" "01695" "ABCA4_000542" "g.94495083G>A" "11, 77176, 0, 0.0001425" "{PMID:Aguirre-Lamban 2009:19959634}, {PMID:Riveiro-Alvarez 2013:23755871}" "" "c.4457C>T" "" "Germline" "?" "" "0" "" "" "g.94029527G>A" "" "likely pathogenic" ""
"0000122565" "0" "50" "1" "94485162" "94485162" "subst" "0" "01695" "ABCA4_000467" "g.94485162C>A" "" "{PMID:Aguirre-Lamban 2009:19959634}, {PMID:Riveiro-Alvarez 2013:23755871}" "" "c.5172G>T" "" "Germline" "-" "" "0" "" "" "g.94019606C>A" "" "VUS" ""
"0000122566" "0" "50" "1" "94508322" "94508322" "subst" "1.62513E-5" "01695" "ABCA4_000128" "g.94508322C>T" "2, 121288, 0, 0.00001649" "{PMID:Aguirre-Lamban 2009:19959634}, {PMID:Riveiro-Alvarez 2013:23755871}" "" "c.3323G>A" "" "Germline" "-" "" "0" "" "" "g.94042766C>T" "" "VUS" ""
"0000122567" "0" "50" "1" "94480094" "94480094" "subst" "0" "01695" "ABCA4_000436" "g.94480094C>T" "" "{PMID:Aguirre-Lamban 2009:19959634}, {PMID:Riveiro-Alvarez 2013:23755871}" "" "IVS38+5G>A" "" "Germline" "?" "" "0" "" "" "g.94014538C>T" "" "VUS" ""
"0000122568" "0" "50" "1" "94508435" "94508436" "dup" "0" "01695" "ABCA4_000998" "g.94508435_94508436dup" "" "{PMID:Aguirre-Lamban 2009:19959634}, {PMID:Riveiro-Alvarez 2013:23755871}" "" "c.3211_3212insGT" "" "Germline" "-" "" "0" "" "" "g.94042879_94042880dup" "" "VUS" ""
"0000122569" "0" "70" "1" "94476427" "94476441" "dup" "0" "01695" "ABCA4_000421" "g.94476427_94476441dup" "" "{PMID:Aguirre-Lamban 2009:19959634}, {PMID:Riveiro-Alvarez 2013:23755871}" "" "p.KNLFA1876dup" "" "Germline" "?" "" "0" "" "" "g.94010871_94010885dup" "" "likely pathogenic" ""
"0000122570" "0" "50" "1" "94473266" "94473266" "subst" "8.14677E-6" "01695" "ABCA4_000389" "g.94473266C>T" "1, 120422, 0, 0.000008304" "{PMID:Aguirre-Lamban 2009:19959634}, {PMID:Riveiro-Alvarez 2013:23755871}" "" "c.5929G>A(False>)" "" "Germline" "-" "" "0" "" "" "g.94007710C>T" "" "VUS" ""
"0000122571" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "26, 121404, 0, 0.0002142" "{PMID:Aguirre-Lamban 2009:19959634}, {PMID:Riveiro-Alvarez 2013:23755871}" "" "c.6079C>T" "" "Germline" "?" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic" ""
"0000122572" "0" "50" "1" "94509026" "94509026" "subst" "4.06497E-5" "01695" "ABCA4_000660" "g.94509026G>A" "5, 120988, 0, 0.00004133" "{PMID:Aguirre-Lamban 2009:19959634}, {PMID:Riveiro-Alvarez 2013:23755871}" "" "c.3056C>T" "" "Germline" "-" "" "0" "" "" "g.94043470G>A" "" "VUS" ""
"0000122573" "0" "70" "1" "94471004" "94471004" "subst" "0" "01695" "ABCA4_000789" "g.94471004A>T" "" "{PMID:Aguirre-Lamban 2009:19959634}, {PMID:Riveiro-Alvarez 2013:23755871}" "" "c.6140T>A" "" "Germline" "?" "" "0" "" "" "g.94005448A>T" "" "likely pathogenic" ""
"0000122574" "0" "50" "1" "94463587" "94463587" "subst" "0" "01695" "ABCA4_000136" "g.94463587G>A" "" "{PMID:Aguirre-Lamban 2009:19959634}, {PMID:Riveiro-Alvarez 2013:23755871}" "" "c.6559C>T" "" "Germline" "-" "" "0" "" "" "g.93998031G>A" "" "VUS" ""
"0000122575" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Aguirre-Lamban 2009:19959634}, {PMID:Riveiro-Alvarez 2013:23755871}" "" "c.5582G>A" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "pathogenic" ""
"0000122576" "0" "50" "1" "94577010" "94577010" "subst" "1.22004E-5" "01695" "ABCA4_000224" "g.94577010T>C" "3, 119734, 0, 0.00002506" "{PMID:Ernest 2009:20029649}" "" "c.286A>G" "" "Germline" "-" "" "0" "" "" "g.94111454T>C" "" "VUS" ""
"0000122577" "0" "50" "1" "94564462" "94564462" "subst" "4.06775E-5" "01695" "ABCA4_000380" "g.94564462C>G" "5, 120978, 0, 0.00004133" "{PMID:Ernest 2009:20029649}" "" "c.656G>C" "" "Germline" "-" "" "0" "" "" "g.94098906C>G" "" "VUS" ""
"0000122578" "0" "50" "1" "94564378" "94564378" "subst" "0" "01695" "ABCA4_000368" "g.94564378T>A" "" "{PMID:Ernest 2009:20029649}" "" "c.740A>T" "" "Germline" "-" "" "0" "" "" "g.94098822T>A" "" "VUS" ""
"0000122579" "0" "50" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "13, 121216, 0, 0.0001072" "{PMID:Ernest 2009:20029649}" "" "c.768G>T" "" "Germline" "-" "" "0" "" "" "g.94098794C>A" "" "VUS" ""
"0000122580" "0" "50" "1" "94546234" "94546234" "subst" "0" "01695" "ABCA4_000351" "g.94546234G>T" "" "{PMID:Ernest 2009:20029649}" "" "c.899C>A" "" "Germline" "-" "" "0" "" "" "g.94080678G>T" "" "VUS" ""
"0000122581" "0" "90" "1" "94528265" "94528265" "subst" "2.44212E-5" "01695" "ABCA4_000284" "g.94528265C>T" "2, 119074, 0, 0.0000168" "{PMID:Ernest 2009:20029649}" "" "c.1805G>A" "" "Germline" "-" "" "0" "" "" "g.94062709C>T" "" "pathogenic" ""
"0000122582" "0" "50" "1" "94528248" "94528248" "subst" "1.22148E-5" "01695" "ABCA4_000279" "g.94528248A>T" "1, 119894, 0, 0.000008341" "{PMID:Ernest 2009:20029649}" "" "c.1822T>A" "" "Germline" "-" "" "0" "" "" "g.94062692A>T" "" "VUS" ""
"0000122583" "0" "50" "1" "94528217" "94528217" "subst" "0" "01695" "ABCA4_000272" "g.94528217C>T" "" "{PMID:Ernest 2009:20029649}" "" "c.1853G>A" "" "Germline" "-" "" "0" "" "" "g.94062661C>T" "" "VUS" ""
"0000122584" "0" "50" "1" "94526316" "94526316" "subst" "4.25152E-6" "01695" "ABCA4_000118" "g.94526316C>T" "1, 80740, 0, 0.00001239" "{PMID:Ernest 2009:20029649}" "" "c.1938–1G>A" "" "Germline" "-" "" "0" "" "" "g.94060760C>T" "" "VUS" ""
"0000122585" "0" "50" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Ernest 2009:20029649}" "" "c.2588G>C" "" "Germline" "-" "rs76157638" "0" "" "" "g.94051698C>G" "" "VUS" ""
"0000122586" "0" "50" "1" "94510301" "94510301" "del" "0" "01695" "ABCA4_000675" "g.94510301del" "" "{PMID:Ernest 2009:20029649}" "" "c.2919del" "" "Germline" "-" "" "0" "" "" "g.94044745del" "" "VUS" ""
"0000122587" "0" "50" "1" "94506952" "94506952" "subst" "0" "01695" "ABCA4_000628" "g.94506952G>T" "" "{PMID:Ernest 2009:20029649}" "" "c.3335C>A" "" "Germline" "-" "" "0" "" "" "g.94041396G>T" "" "VUS" ""
"0000122588" "0" "50" "1" "94497588" "94497588" "subst" "4.153E-6" "01695" "ABCA4_000049" "g.94497588G>A" "1, 117696, 0, 0.000008496" "{PMID:Ernest 2009:20029649}" "" "c.3874C>T" "" "Germline" "-" "" "0" "" "" "g.94032032G>A" "" "VUS" ""
"0000122589" "0" "50" "1" "94497563" "94497563" "subst" "0.00492504" "01695" "ABCA4_000090" "g.94497563C>T" "757, 118654, 27, 0.00638" "{PMID:Ernest 2009:20029649}" "" "c.3899G>A" "" "Germline" "-" "" "0" "" "" "g.94032007C>T" "" "VUS" ""
"0000122590" "0" "50" "1" "94496039" "94496039" "subst" "0.00157963" "01695" "ABCA4_000552" "g.94496039C>T" "173, 121380, 1, 0.001425" "{PMID:Ernest 2009:20029649}" "" "c.4297G>A" "" "Germline" "-" "" "0" "" "" "g.94030483C>T" "" "VUS" ""
"0000122591" "0" "50" "1" "94495078" "94495078" "subst" "8.37044E-6" "01695" "ABCA4_000042" "g.94495078A>G" "1, 70400, 0, 0.0000142" "{PMID:Ernest 2009:20029649}" "" "c.4462T>C" "" "Germline" "-" "" "0" "" "" "g.94029522A>G" "" "VUS" ""
"0000122592" "0" "50" "1" "94495034" "94495034" "subst" "5.28994E-6" "01695" "ABCA4_000539" "g.94495034G>T" "" "{PMID:Ernest 2009:20029649}" "" "c.4506C>A" "" "Germline" "-" "" "0" "" "" "g.94029478G>T" "" "VUS" ""
"0000122593" "0" "50" "1" "94495000" "94495000" "subst" "0" "01695" "ABCA4_000164" "g.94495000C>A" "" "{PMID:Ernest 2009:20029649}" "" "c.4539+1G>T" "" "Germline" "-" "" "0" "" "" "g.94029444C>A" "" "VUS" ""
"0000122594" "0" "50" "1" "94487401" "94487401" "subst" "4.06085E-6" "01695" "ABCA4_000995" "g.94487401C>T" "" "{PMID:Ernest 2009:20029649}" "" "c.4774+1G>A" "" "Germline" "-" "" "0" "" "" "g.94021845C>T" "" "VUS" ""
"0000122595" "0" "50" "1" "94485173" "94485174" "del" "0" "01695" "ABCA4_000468" "g.94485173_94485174del" "" "{PMID:Ernest 2009:20029649}" "" "c.5161–5162delAC" "" "Germline" "-" "" "0" "" "" "g.94019617_94019618del" "" "VUS" ""
"0000122596" "0" "50" "1" "94480222" "94480222" "subst" "4.06121E-6" "01695" "ABCA4_000442" "g.94480222G>T" "" "{PMID:Ernest 2009:20029649}" "" "c.5337C>A" "" "Germline" "-" "" "0" "" "" "g.94014666G>T" "" "VUS" ""
"0000122597" "0" "50" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Ernest 2009:20029649}" "" "c.5461–10T>C" "" "Germline" "-" "" "0" "" "" "g.94011395A>G" "" "VUS" ""
"0000122598" "0" "50" "1" "94476865" "94476865" "subst" "2.03107E-5" "01695" "ABCA4_000430" "g.94476865A>G" "3, 121186, 0, 0.00002476" "{PMID:Ernest 2009:20029649}" "" "c.5537T>C" "" "Germline" "-" "" "0" "" "" "g.94011309A>G" "" "VUS" ""
"0000122599" "0" "50" "1" "94476377" "94476377" "subst" "0.00160473" "01695" "ABCA4_000411" "g.94476377C>T" "216, 121058, 1, 0.001784" "{PMID:Ernest 2009:20029649}" "" "c.5693G>A" "" "Germline" "-" "" "0" "" "" "g.94010821C>T" "" "VUS" ""
"0000122600" "0" "50" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "42, 120772, 0, 0.0003478" "{PMID:Ernest 2009:20029649}" "" "c.5715+5G>A" "" "Germline" "-" "" "0" "" "" "g.94010795C>T" "" "VUS" ""
"0000122601" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Ernest 2009:20029649}" "" "c.5882G>A" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000122602" "0" "50" "1" "94471056" "94471056" "subst" "2.84398E-5" "01695" "ABCA4_000050" "g.94471056G>A" "3, 121402, 0, 0.00002471" "{PMID:Ernest 2009:20029649}" "" "c.6088C>T" "" "Germline" "-" "" "0" "" "" "g.94005500G>A" "" "VUS" ""
"0000122603" "0" "50" "1" "94471055" "94471055" "subst" "0.00035346" "01695" "ABCA4_000029" "g.94471055C>T" "47, 121404, 1, 0.0003871" "{PMID:Ernest 2009:20029649}" "" "c.6089G>A" "" "Germline" "-" "" "0" "" "" "g.94005499C>T" "" "VUS" ""
"0000122604" "0" "50" "1" "94467460" "94467461" "del" "0" "01695" "ABCA4_000778" "g.94467460_94467461del" "" "{PMID:Ernest 2009:20029649}" "" "c.6238–6239delTC" "" "Germline" "-" "" "0" "" "" "g.94001904_94001905del" "" "VUS" ""
"0000122605" "0" "50" "1" "94463617" "94463617" "subst" "0.0109114" "01695" "ABCA4_000013" "g.94463617C>T" "1235, 121366, 14, 0.01018" "{PMID:Ernest 2009:20029649}" "" "c.6529G>A" "" "Germline" "-" "" "0" "" "" "g.93998061C>T" "" "VUS" ""
"0000122606" "0" "50" "1" "94576990" "94576990" "subst" "0" "01695" "ABCA4_000221" "g.94576990T>G" "" "{PMID:Ernest 2009:20029649}" "" "c.303+4A>C" "" "Germline" "-" "" "0" "" "" "g.94111434T>G" "" "VUS" ""
"0000122607" "0" "50" "1" "94546261" "94546261" "subst" "0.000648567" "01695" "ABCA4_000353" "g.94546261G>A" "65, 120922, 1, 0.0005375" "{PMID:Ernest 2009:20029649}" "" "c.872C>T" "" "Germline" "-" "" "0" "" "" "g.94080705G>A" "" "VUS" ""
"0000122608" "0" "50" "1" "94512487" "94512487" "subst" "0" "01695" "ABCA4_000682" "g.94512487T>C" "" "{PMID:Ernest 2009:20029649}" "" "c.2906A>G" "" "Germline" "-" "" "0" "" "" "g.94046931T>C" "" "VUS" ""
"0000122609" "0" "50" "1" "94510272" "94510272" "subst" "4.06062E-6" "01695" "ABCA4_000070" "g.94510272T>C" "" "{PMID:Ernest 2009:20029649}" "" "c.2947A>G" "" "Germline" "-" "" "0" "" "" "g.94044716T>C" "" "VUS" ""
"0000122610" "0" "50" "1" "94508412" "94508412" "subst" "0" "01695" "ABCA4_000644" "g.94508412C>T" "" "{PMID:Ernest 2009:20029649}" "" "c.3233G>A" "" "Germline" "-" "" "0" "" "" "g.94042856C>T" "" "VUS" ""
"0000122611" "0" "50" "1" "94508340" "94508340" "subst" "4.06171E-6" "01695" "ABCA4_000630" "g.94508340T>A" "1, 121340, 0, 0.000008241" "{PMID:Ernest 2009:20029649}" "" "c.3305A>T" "" "Germline" "-" "" "0" "" "" "g.94042784T>A" "" "VUS" ""
"0000122612" "0" "50" "1" "94495983" "94495983" "subst" "8.12348E-6" "01695" "ABCA4_000547" "g.94495983C>T" "1, 121268, 0, 0.000008246" "{PMID:Ernest 2009:20029649}" "" "c.4353+1G>A" "" "Germline" "-" "" "0" "" "" "g.94030427C>T" "" "VUS" ""
"0000122613" "0" "50" "1" "94485221" "94485221" "subst" "0" "01695" "ABCA4_000471" "g.94485221G>A" "4, 103872, 0, 0.00003851" "{PMID:Ernest 2009:20029649}" "" "c.5113C>T" "" "Germline" "-" "" "0" "" "" "g.94019665G>A" "" "VUS" ""
"0000122614" "0" "50" "1" "94474381" "94474382" "dup" "0" "01695" "ABCA4_000409" "g.94474381_94474382dup" "" "{PMID:Ernest 2009:20029649}" "" "c.5762_5763dup" "" "Germline" "-" "" "0" "" "" "g.94008825_94008826dup" "" "VUS" ""
"0000122615" "0" "50" "1" "94466460" "94466460" "subst" "0" "01695" "ABCA4_000824" "g.94466460A>T" "" "{PMID:Ernest 2009:20029649}" "" "c.6411T>A" "" "Germline" "-" "" "0" "" "" "g.94000904A>T" "" "VUS" ""
"0000122616" "0" "50" "1" "94577010" "94577010" "subst" "1.22004E-5" "01695" "ABCA4_000224" "g.94577010T>C" "3, 119734, 0, 0.00002506" "{PMID:Ernest 2009:20029649}" "" "c.286A>G" "" "Germline" "-" "" "0" "" "" "g.94111454T>C" "" "VUS" ""
"0000122617" "0" "50" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "13, 121216, 0, 0.0001072" "{PMID:Ernest 2009:20029649}" "" "c.768G>T" "" "Germline" "-" "" "0" "" "" "g.94098794C>A" "" "VUS" ""
"0000122618" "0" "50" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "13, 121216, 0, 0.0001072" "{PMID:Ernest 2009:20029649}" "" "c.768G>T" "" "Germline" "-" "" "0" "" "" "g.94098794C>A" "" "VUS" ""
"0000122619" "0" "50" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "13, 121216, 0, 0.0001072" "{PMID:Ernest 2009:20029649}" "" "c.768G>T" "" "Germline" "-" "" "0" "" "" "g.94098794C>A" "" "VUS" ""
"0000122620" "0" "50" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "13, 121216, 0, 0.0001072" "{PMID:Ernest 2009:20029649}" "" "c.768G>T" "" "Germline" "-" "" "0" "" "" "g.94098794C>A" "" "VUS" ""
"0000122621" "0" "50" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "13, 121216, 0, 0.0001072" "{PMID:Ernest 2009:20029649}" "" "c.768G>T" "" "Germline" "-" "" "0" "" "" "g.94098794C>A" "" "VUS" ""
"0000122622" "0" "50" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "13, 121216, 0, 0.0001072" "{PMID:Ernest 2009:20029649}" "" "c.768G>T" "" "Germline" "-" "" "0" "" "" "g.94098794C>A" "" "VUS" ""
"0000122623" "0" "50" "1" "94528248" "94528248" "subst" "1.22148E-5" "01695" "ABCA4_000279" "g.94528248A>T" "1, 119894, 0, 0.000008341" "{PMID:Ernest 2009:20029649}" "" "c.1822T>A" "" "Germline" "-" "" "0" "" "" "g.94062692A>T" "" "VUS" ""
"0000122624" "0" "50" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Ernest 2009:20029649}" "" "c.2588G>C" "" "Germline" "-" "rs76157638" "0" "" "" "g.94051698C>G" "" "VUS" ""
"0000122625" "0" "50" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Ernest 2009:20029649}" "" "c.2588G>C" "" "Germline" "-" "rs76157638" "0" "" "" "g.94051698C>G" "" "VUS" ""
"0000122626" "0" "50" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Ernest 2009:20029649}" "" "c.2588G>C" "" "Germline" "-" "rs76157638" "0" "" "" "g.94051698C>G" "" "VUS" ""
"0000122627" "0" "50" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Ernest 2009:20029649}" "" "c.2588G>C" "" "Germline" "-" "rs76157638" "0" "" "" "g.94051698C>G" "" "VUS" ""
"0000122628" "0" "50" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Ernest 2009:20029649}" "" "c.2588G>C" "" "Germline" "-" "rs76157638" "0" "" "" "g.94051698C>G" "" "VUS" ""
"0000122629" "0" "50" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Ernest 2009:20029649}" "" "c.2588G>C" "" "Germline" "-" "rs76157638" "0" "" "" "g.94051698C>G" "" "VUS" ""
"0000122630" "0" "50" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Ernest 2009:20029649}" "" "c.2588G>C" "" "Germline" "-" "rs76157638" "0" "" "" "g.94051698C>G" "" "VUS" ""
"0000122631" "0" "50" "1" "94510301" "94510301" "del" "0" "01695" "ABCA4_000675" "g.94510301del" "" "{PMID:Ernest 2009:20029649}" "" "c.2919del" "" "Germline" "-" "" "0" "" "" "g.94044745del" "" "VUS" ""
"0000122632" "0" "50" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Ernest 2009:20029649}" "" "c.5461–10T>C" "" "Germline" "-" "" "0" "" "" "g.94011395A>G" "" "VUS" ""
"0000122633" "0" "50" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Ernest 2009:20029649}" "" "c.5461–10T>C" "" "Germline" "-" "" "0" "" "" "g.94011395A>G" "" "VUS" ""
"0000122634" "0" "50" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Ernest 2009:20029649}" "" "c.5461–10T>C" "" "Germline" "-" "" "0" "" "" "g.94011395A>G" "" "VUS" ""
"0000122635" "0" "50" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Ernest 2009:20029649}" "" "c.5461–10T>C" "" "Germline" "-" "" "0" "" "" "g.94011395A>G" "" "VUS" ""
"0000122636" "0" "50" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Ernest 2009:20029649}" "" "c.5461–10T>C" "" "Germline" "-" "" "0" "" "" "g.94011395A>G" "" "VUS" ""
"0000122637" "0" "50" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Ernest 2009:20029649}" "" "c.5461–10T>C" "" "Germline" "-" "" "0" "" "" "g.94011395A>G" "" "VUS" ""
"0000122638" "0" "50" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Ernest 2009:20029649}" "" "c.5461–10T>C" "" "Germline" "-" "" "0" "" "" "g.94011395A>G" "" "VUS" ""
"0000122639" "0" "50" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Ernest 2009:20029649}" "" "c.5461–10T>C" "" "Germline" "-" "" "0" "" "" "g.94011395A>G" "" "VUS" ""
"0000122640" "0" "50" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "42, 120772, 0, 0.0003478" "{PMID:Ernest 2009:20029649}" "" "c.5715+5G>A" "" "Germline" "-" "" "0" "" "" "g.94010795C>T" "" "VUS" ""
"0000122641" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Ernest 2009:20029649}" "" "c.5882G>A" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000122642" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Ernest 2009:20029649}" "" "c.5882G>A" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000122643" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Ernest 2009:20029649}" "" "c.5882G>A" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000122644" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Ernest 2009:20029649}" "" "c.5882G>A" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000122645" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Ernest 2009:20029649}" "" "c.5882G>A" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000122646" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Ernest 2009:20029649}" "" "c.5882G>A" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000122647" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Ernest 2009:20029649}" "" "c.5882G>A" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000122648" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Ernest 2009:20029649}" "" "c.5882G>A" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000122649" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Ernest 2009:20029649}" "" "c.5882G>A" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000122650" "0" "50" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "13, 121216, 0, 0.0001072" "{PMID:Horn 2010:20532522}" "" "c.768G>T" "" "Germline" "-" "" "0" "" "" "g.94098794C>A" "" "VUS" ""
"0000122651" "3" "90" "1" "94578529" "94578529" "subst" "0" "01695" "ABCA4_000245" "g.94578529A>C" "" "{PMID:Littink 2010:20554613}" "" "p.C54G" "" "Germline" "?" "" "0" "" "" "g.94112973A>C" "" "pathogenic" ""
"0000122652" "3" "90" "1" "94578529" "94578529" "subst" "0" "01695" "ABCA4_000245" "g.94578529A>C" "" "{PMID:Littink 2010:20554613}" "" "p.C54G" "" "Germline" "?" "" "0" "" "" "g.94112973A>C" "" "pathogenic" ""
"0000122653" "3" "90" "1" "94578529" "94578529" "subst" "0" "01695" "ABCA4_000245" "g.94578529A>C" "" "{PMID:Littink 2010:20554613}" "" "p.C54G" "" "Germline" "?" "" "0" "" "" "g.94112973A>C" "" "pathogenic" ""
"0000122654" "3" "50" "1" "94463399" "94463413" "del" "0" "01695" "ABCA4_000851" "g.94463399_94463413del" "" "{PMID:Littink 2010:20554613}" "" "c.6729_5_19del15" "" "Germline" "?" "" "0" "" "" "g.93997843_93997857del" "" "VUS" ""
"0000122655" "1" "70" "1" "94528713" "94528713" "subst" "4.87381E-5" "01695" "ABCA4_000072" "g.94528713C>T" "" "{PMID:Schindler 2010:20647261}" "" "Gly863Ala (G)GA>(G)CA / Arg572Gln CGA>CAA" "" "Germline" "-" "" "0" "" "" "g.94063157C>T" "" "likely pathogenic" ""
"0000122656" "1" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Schindler 2010:20647261}" "" "Gly863Ala (G)GA>(G)CA / Arg572Gln CGA>CAA" "" "Germline" "-" "rs76157638" "0" "" "" "g.94051698C>G" "" "likely pathogenic" ""
"0000122657" "1" "50" "1" "94520694" "94520694" "subst" "8.12414E-6" "01695" "ABCA4_000712" "g.94520694C>T" "" "{PMID:Schindler 2010:20647261}" "" "Ala1038Val GCC>GTC / Ala854Thr GCT>ACT" "" "Germline" "?" "" "0" "" "" "g.94055138C>T" "" "VUS" ""
"0000122658" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Schindler 2010:20647261}" "" "Ala1038Val GCC>GTC / Ala854Thr GCT>ACT" "" "Germline" "?" "" "0" "" "" "g.94043413G>A" "" "pathogenic" ""
"0000122659" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Schindler 2010:20647261}" "" "Gly863Ala (G)GA (G)CA" "" "Germline" "-" "rs76157638" "0" "" "" "g.94051698C>G" "" "likely pathogenic" ""
"0000122660" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "14, 121282, 0, 0.0001154" "{PMID:Schindler 2010:20647261}" "" "Arg1108Cys CGC>TGC" "" "Germline" "?" "" "0" "" "" "g.94042767G>A" "" "pathogenic" ""
"0000122661" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Schindler 2010:20647261}" "" "Gly863Ala (G)GA (G)CA" "" "Germline" "-" "rs76157638" "0" "" "" "g.94051698C>G" "" "likely pathogenic" ""
"0000122662" "0" "90" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "14, 120056, 0, 0.0001166" "{PMID:Schindler 2010:20647261}" "" "Arg212Cys CGC>CGT" "" "Germline" "?" "" "0" "" "" "g.94098928G>A" "" "pathogenic" ""
"0000122663" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Schindler 2010:20647261}" "" "Gly863Ala (G)GA (G)CA" "" "Germline" "-" "rs76157638" "0" "" "" "g.94051698C>G" "" "pathogenic" ""
"0000122664" "0" "90" "1" "94526212" "94526212" "subst" "1.22012E-5" "01695" "ABCA4_000075" "g.94526212G>A" "3, 120836, 0, 0.00002483" "{PMID:Schindler 2010:20647261}" "" "Arg681Stop CGA>TGA" "" "Germline" "?" "" "0" "" "" "g.94060656G>A" "" "pathogenic" ""
"0000122665" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Schindler 2010:20647261}" "" "Gly863Ala (G)GA (G)CA" "" "Germline" "-" "rs76157638" "0" "" "" "g.94051698C>G" "" "likely pathogenic" ""
"0000122666" "0" "90" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "21, 121302, 0, 0.0001731" "{PMID:Schindler 2010:20647261}" "" "Asn965Ser AAT>AGT" "" "Germline" "?" "" "0" "" "" "g.94046943T>C" "" "pathogenic" ""
"0000122667" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Schindler 2010:20647261}" "" "Gly863Ala (G)GA (G)CA" "" "Germline" "-" "rs76157638" "0" "" "" "g.94051698C>G" "" "likely pathogenic" ""
"0000122668" "0" "90" "1" "94466422" "94466422" "subst" "2.43651E-5" "01695" "ABCA4_000817" "g.94466422C>T" "3, 121398, 0, 0.00002471" "{PMID:Schindler 2010:20647261}" "" "Cys2150Tyr TGT>TAT" "" "Germline" "?" "" "0" "" "" "g.94000866C>T" "" "pathogenic" ""
"0000122669" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Schindler 2010:20647261}" "" "Gly863Ala (G)GA (G)CA" "" "Germline" "-" "rs76157638" "0" "" "" "g.94051698C>G" "" "likely pathogenic" ""
"0000122670" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Schindler 2010:20647261}" "" "Gly1961Glu GGA>GAA" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "pathogenic" ""
"0000122671" "0" "50" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Schindler 2010:20647261}" "" "Gly863Ala (G)GA (G)CA" "" "Germline" "-" "rs76157638" "0" "" "" "g.94051698C>G" "" "VUS" ""
"0000122672" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Schindler 2010:20647261}" "" "IVS38-10 T>C" "" "Germline" "?" "" "0" "" "" "g.94011395A>G" "" "pathogenic" ""
"0000122673" "0" "50" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Schindler 2010:20647261}" "" "Gly863Ala (G)GA (G)CA" "" "Germline" "-" "rs76157638" "0" "" "" "g.94051698C>G" "" "VUS" ""
"0000122674" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Schindler 2010:20647261}" "" "IVS38-10 T>C" "" "Germline" "?" "" "0" "" "" "g.94011395A>G" "" "pathogenic" ""
"0000122675" "0" "50" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Schindler 2010:20647261}" "" "Gly863Ala (G)GA (G)CA" "" "Germline" "-" "rs76157638" "0" "" "" "g.94051698C>G" "" "VUS" ""
"0000122676" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Schindler 2010:20647261}" "" "IVS38-10 T>C" "" "Germline" "?" "" "0" "" "" "g.94011395A>G" "" "pathogenic" ""
"0000122677" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Schindler 2010:20647261}" "" "Gly863Ala (G)GA (G)CA" "" "Germline" "-" "rs76157638" "0" "" "" "g.94051698C>G" "" "pathogenic" ""
"0000122678" "0" "90" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "42, 120772, 0, 0.0003478" "{PMID:Schindler 2010:20647261}" "" "IVS40+5 G>A" "" "Germline" "?" "" "0" "" "" "g.94010795C>T" "" "pathogenic" ""
"0000122679" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Schindler 2010:20647261}" "" "Gly863Ala (G)GA (G)CA" "" "Germline" "-" "rs76157638" "0" "" "" "g.94051698C>G" "" "pathogenic" ""
"0000122680" "0" "90" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "42, 120772, 0, 0.0003478" "{PMID:Schindler 2010:20647261}" "" "IVS40+5 G>A" "" "Germline" "?" "" "0" "" "" "g.94010795C>T" "" "pathogenic" ""
"0000122681" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Schindler 2010:20647261}" "" "Gly863Ala (G)GA (G)CA" "" "Germline" "-" "rs76157638" "0" "" "" "g.94051698C>G" "" "likely pathogenic" ""
"0000122682" "0" "90" "1" "94544884" "94544886" "dup" "0" "01695" "ABCA4_000327" "g.94544884_94544886dup" "" "{PMID:Schindler 2010:20647261}" "" "Leu411ins3 ataCTG" "" "Germline" "?" "" "0" "" "" "g.94079328_94079330dup" "" "pathogenic" ""
"0000122683" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Schindler 2010:20647261}" "" "Gly863Ala (G)GA (G)CA" "" "Germline" "-" "rs76157638" "0" "" "" "g.94051698C>G" "" "likely pathogenic" ""
"0000122684" "0" "90" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "15, 121412, 0, 0.0001235" "{PMID:Schindler 2010:20647261}" "" "Leu541Pro CTA>CCA" "" "Germline" "?" "" "0" "" "" "g.94063250A>G" "" "pathogenic" ""
"0000122685" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Schindler 2010:20647261}" "" "Gly863Ala (G)GA (G)CA" "" "Germline" "-" "rs76157638" "0" "" "" "g.94051698C>G" "" "pathogenic" ""
"0000122686" "0" "90" "1" "94546185" "94546185" "del" "0" "01695" "ABCA4_000350" "g.94546185del" "" "{PMID:Schindler 2010:20647261}" "" "Met316del1 atG" "" "Germline" "?" "" "0" "" "" "g.94080629del" "" "pathogenic" ""
"0000122687" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Schindler 2010:20647261}" "" "Gly863Ala (G)GA (G)CA" "" "Germline" "-" "rs76157638" "0" "" "" "g.94051698C>G" "" "likely pathogenic" ""
"0000122688" "0" "90" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "24, 119274, 0, 0.0002012" "{PMID:Schindler 2010:20647261}" "" "Pro1380Leu CCG>CTG" "" "Germline" "?" "" "0" "" "" "g.94031110G>A" "" "pathogenic" ""
"0000122689" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Schindler 2010:20647261}" "" "Gly863Ala (G)GA (G)CA" "" "Germline" "-" "rs76157638" "0" "" "" "g.94051698C>G" "" "likely pathogenic" ""
"0000122690" "0" "90" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "24, 119274, 0, 0.0002012" "{PMID:Schindler 2010:20647261}" "" "Pro1380Leu CCG>CTG" "" "Germline" "?" "" "0" "" "" "g.94031110G>A" "" "pathogenic" ""
"0000122691" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Schindler 2010:20647261}" "" "Gly863Ala (G)GA (G)CA" "" "Germline" "-" "rs76157638" "0" "" "" "g.94051698C>G" "" "likely pathogenic" ""
"0000122692" "0" "90" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "24, 119274, 0, 0.0002012" "{PMID:Schindler 2010:20647261}" "" "Pro1380Leu CCG>CTG" "" "Germline" "?" "" "0" "" "" "g.94031110G>A" "" "pathogenic" ""
"0000122693" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Schindler 2010:20647261}" "" "Gly863Ala (G)GA (G)CA" "" "Germline" "-" "rs76157638" "0" "" "" "g.94051698C>G" "" "pathogenic" ""
"0000122694" "0" "90" "1" "94568577" "94568577" "del" "0" "01695" "ABCA4_000201" "g.94568577del" "" "{PMID:Schindler 2010:20647261}" "" "Pro188 del1ccA" "" "Germline" "?" "" "0" "" "" "g.94103021del" "" "pathogenic" ""
"0000122695" "0" "50" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Schindler 2010:20647261}" "" "Gly863Ala (G)GA (G)CA" "found no variant 2nd chromosome" "Germline" "-" "rs76157638" "0" "" "" "g.94051698C>G" "" "VUS" ""
"0000122696" "0" "50" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Schindler 2010:20647261}" "" "Gly863Ala (G)GA (G)CA" "found no variant 2nd chromosome" "Germline" "-" "rs76157638" "0" "" "" "g.94051698C>G" "" "VUS" ""
"0000122697" "0" "50" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Schindler 2010:20647261}" "" "Gly863Ala (G)GA (G)CA" "found no variant 2nd chromosome" "Germline" "-" "rs76157638" "0" "" "" "g.94051698C>G" "" "VUS" ""
"0000122698" "0" "50" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Schindler 2010:20647261}" "" "Gly863Ala (G)GA (G)CA" "found no variant 2nd chromosome" "Germline" "-" "rs76157638" "0" "" "" "g.94051698C>G" "" "VUS" ""
"0000122699" "0" "50" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Schindler 2010:20647261}" "" "Gly863Ala (G)GA (G)CA" "found no variant 2nd chromosome" "Germline" "-" "rs76157638" "0" "" "" "g.94051698C>G" "" "VUS" ""
"0000122700" "0" "50" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Schindler 2010:20647261}" "" "Gly863Ala (G)GA (G)CA" "found no variant 2nd chromosome" "Germline" "-" "rs76157638" "0" "" "" "g.94051698C>G" "" "VUS" ""
"0000122701" "0" "50" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Schindler 2010:20647261}" "" "Gly863Ala (G)GA (G)CA" "found no variant 2nd chromosome" "Germline" "-" "rs76157638" "0" "" "" "g.94051698C>G" "" "VUS" ""
"0000122702" "0" "50" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Schindler 2010:20647261}" "" "Gly863Ala (G)GA (G)CA" "found no variant 2nd chromosome" "Germline" "-" "rs76157638" "0" "" "" "g.94051698C>G" "" "VUS" ""
"0000122703" "0" "50" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Schindler 2010:20647261}" "" "Gly863Ala (G)GA (G)CA" "" "Germline" "-" "rs76157638" "0" "" "" "g.94051698C>G" "" "VUS" ""
"0000122704" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "13, 121216, 0, 0.0001072" "{PMID:Schindler 2010:20647261}" "" "Val256Val GTG>GTT" "" "Germline" "?" "" "0" "" "" "g.94098794C>A" "" "pathogenic" ""
"0000122705" "0" "50" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Schindler 2010:20647261}" "" "IVS38-10 T>C" "" "Germline" "-" "" "0" "" "" "g.94011395A>G" "" "VUS" ""
"0000122706" "0" "50" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "13, 121216, 0, 0.0001072" "{PMID:Schindler 2010:20647261}" "" "Val256Val GTG>GTT" "" "Germline" "?" "" "0" "" "" "g.94098794C>A" "" "VUS" ""
"0000122707" "0" "50" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Schindler 2010:20647261}" "" "IVS38-10 T>C" "found no variant 2nd chromosome" "Germline" "-" "" "0" "" "" "g.94011395A>G" "" "VUS" ""
"0000122708" "0" "50" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Schindler 2010:20647261}" "" "IVS38-10 T>C" "found no variant 2nd chromosome" "Germline" "-" "" "0" "" "" "g.94011395A>G" "" "VUS" ""
"0000122709" "0" "50" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Schindler 2010:20647261}" "" "IVS38-10 T>C" "found no variant 2nd chromosome" "Germline" "-" "" "0" "" "" "g.94011395A>G" "" "VUS" ""
"0000122710" "0" "50" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Schindler 2010:20647261}" "" "IVS38-10 T>C" "found no variant 2nd chromosome" "Germline" "-" "" "0" "" "" "g.94011395A>G" "" "VUS" ""
"0000122711" "0" "50" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Schindler 2010:20647261}" "" "IVS38-10 T>C" "found no variant 2nd chromosome" "Germline" "-" "" "0" "" "" "g.94011395A>G" "" "VUS" ""
"0000122712" "0" "50" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Schindler 2010:20647261}" "" "IVS38-10 T>C" "found no variant 2nd chromosome" "Germline" "-" "" "0" "" "" "g.94011395A>G" "" "VUS" ""
"0000122713" "0" "50" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Schindler 2010:20647261}" "" "IVS38-10 T>C" "found no variant 2nd chromosome" "Germline" "-" "" "0" "" "" "g.94011395A>G" "" "VUS" ""
"0000122714" "0" "70" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Schindler 2010:20647261}" "" "IVS38-10 T>C" "" "Germline" "-" "" "0" "" "" "g.94011395A>G" "" "likely pathogenic" ""
"0000122715" "0" "50" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "24, 119274, 0, 0.0002012" "{PMID:Schindler 2010:20647261}" "" "Pro1380Leu CCG>CTG" "" "Germline" "?" "" "0" "" "" "g.94031110G>A" "" "VUS" ""
"0000122716" "0" "70" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Schindler 2010:20647261}" "" "IVS38-10 T>C" "" "Germline" "-" "" "0" "" "" "g.94011395A>G" "" "likely pathogenic" ""
"0000122717" "0" "50" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "26, 121404, 0, 0.0002142" "{PMID:Schindler 2010:20647261}" "" "Leu2027Phe CTC>TTC" "" "Germline" "?" "" "0" "" "" "g.94005509G>A" "" "VUS" ""
"0000122718" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Schindler 2010:20647261}" "" "IVS38-10 T>C" "" "Germline" "-" "" "0" "" "" "g.94011395A>G" "" "pathogenic" ""
"0000122719" "0" "50" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "42, 120772, 0, 0.0003478" "{PMID:Schindler 2010:20647261}" "" "IVS40+5 G>A" "" "Germline" "?" "" "0" "" "" "g.94010795C>T" "" "VUS" ""
"0000122720" "3" "50" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Schindler 2010:20647261}" "" "IVS38-10 T>C" "" "Germline" "?" "" "0" "" "" "g.94011395A>G" "" "VUS" ""
"0000122721" "0" "50" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Schindler 2010:20647261}" "" "IVS38-10 T>C" "found no variant 2nd chromosome" "Germline" "-" "" "0" "" "" "g.94011395A>G" "" "VUS" ""
"0000122722" "0" "70" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Schindler 2010:20647261}" "" "IVS38-10 T>C" "" "Germline" "-" "" "0" "" "" "g.94011395A>G" "" "likely pathogenic" ""
"0000122723" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Schindler 2010:20647261}" "" "Gly1961Glu GGA>GAA" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000122724" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Schindler 2010:20647261}" "" "IVS38-10 T>C" "" "Germline" "-" "" "0" "" "" "g.94011395A>G" "" "pathogenic" ""
"0000122725" "0" "50" "1" "94463547" "94463548" "del" "0" "01695" "ABCA4_000804" "g.94463547_94463548del" "" "{PMID:Schindler 2010:20647261}" "" "Glu2200del2 aggGA" "" "Germline" "?" "" "0" "" "" "g.93997991_93997992del" "" "VUS" ""
"0000122726" "0" "70" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Schindler 2010:20647261}" "" "IVS38-10 T>C" "" "Germline" "-" "" "0" "" "" "g.94011395A>G" "" "likely pathogenic" ""
"0000122727" "0" "50" "1" "94508386" "94508386" "subst" "1.62443E-5" "01695" "ABCA4_000642" "g.94508386C>T" "4, 121376, 0, 0.00003296" "{PMID:Schindler 2010:20647261}" "" "Glu1087Lys GAA>AAA" "" "Germline" "?" "" "0" "" "" "g.94042830C>T" "" "VUS" ""
"0000122728" "0" "70" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Schindler 2010:20647261}" "" "IVS38-10 T>C" "" "Germline" "-" "" "0" "" "" "g.94011395A>G" "" "likely pathogenic" ""
"0000122729" "0" "50" "1" "94467467" "94467467" "subst" "4.06164E-6" "01695" "ABCA4_000780" "g.94467467G>A" "" "{PMID:Schindler 2010:20647261}" "" "Arg2077Trp CGG>TGG" "" "Germline" "?" "" "0" "" "" "g.94001911G>A" "" "VUS" ""
"0000122730" "0" "70" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Schindler 2010:20647261}" "" "IVS38-10 T>C" "" "Germline" "-" "" "0" "" "" "g.94011395A>G" "" "likely pathogenic" ""
"0000122731" "0" "50" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "14, 121282, 0, 0.0001154" "{PMID:Schindler 2010:20647261}" "" "Arg1108Cys CGC>TGC" "" "Germline" "?" "" "0" "" "" "g.94042767G>A" "" "VUS" ""
"0000122732" "0" "30" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Schindler 2010:20647261}" "" "IVS38-10 T>C" "" "Germline" "-" "" "0" "" "" "g.94011395A>G" "" "likely benign" ""
"0000122733" "0" "50" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "173, 121304, 0, 0.001426" "{PMID:Schindler 2010:20647261}" "" "Ala1038Val GCC>GTC" "" "Germline" "?" "" "0" "" "" "g.94043413G>A" "" "VUS" ""
"0000122734" "0" "30" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Schindler 2010:20647261}" "" "IVS38-10 T>C" "" "Germline" "-" "" "0" "" "" "g.94011395A>G" "" "likely benign" ""
"0000122735" "0" "50" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "173, 121304, 0, 0.001426" "{PMID:Schindler 2010:20647261}" "" "Ala1038Val GCC>GTC" "" "Germline" "?" "" "0" "" "" "g.94043413G>A" "" "VUS" ""
"0000122736" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Schindler 2010:20647261}" "" "Gly1961Glu GGA>GAA" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "pathogenic" ""
"0000122737" "0" "70" "1" "94473278" "94473278" "del" "3.25908E-5" "01695" "ABCA4_000392" "g.94473278del" "" "{PMID:Schindler 2010:20647261}" "" "VAl1973del1 ggaG" "" "Germline" "?" "" "0" "" "" "g.94007722del" "" "likely pathogenic" ""
"0000122738" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Schindler 2010:20647261}" "" "Gly1961Glu GGA>GAA" "found no variant 2nd chromosome" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000122739" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Schindler 2010:20647261}" "" "Gly1961Glu GGA>GAA" "found no variant 2nd chromosome" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000122740" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Schindler 2010:20647261}" "" "Gly1961Glu GGA>GAA" "found no variant 2nd chromosome" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000122741" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Schindler 2010:20647261}" "" "Gly1961Glu GGA>GAA" "found no variant 2nd chromosome" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000122742" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Schindler 2010:20647261}" "" "Gly1961Glu GGA>GAA" "found no variant 2nd chromosome" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000122743" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Schindler 2010:20647261}" "" "Gly1961Glu GGA>GAA" "found no variant 2nd chromosome" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000122744" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Schindler 2010:20647261}" "" "Gly1961Glu GGA>GAA" "found no variant 2nd chromosome" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000122745" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Schindler 2010:20647261}" "" "Gly1961Glu GGA>GAA" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "pathogenic" ""
"0000122746" "0" "70" "1" "94546047" "94546047" "subst" "0" "01695" "ABCA4_000150" "g.94546047A>T" "" "{PMID:Schindler 2010:20647261}" "" "Tyr362Stop TAT>TAA" "" "Germline" "?" "" "0" "" "" "g.94080491A>T" "" "likely pathogenic" ""
"0000122747" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Schindler 2010:20647261}" "" "Gly1961Glu GGA>GAA" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000122748" "0" "70" "1" "94496583" "94496583" "subst" "2.03092E-5" "01695" "ABCA4_000190" "g.94496583A>G" "1, 120898, 0, 0.000008271" "{PMID:Schindler 2010:20647261}" "" "Trp1408Arg TGG>CGG" "" "Germline" "?" "" "0" "" "" "g.94031027A>G" "" "likely pathogenic" ""
"0000122749" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Schindler 2010:20647261}" "" "Gly1961Glu GGA>GAA" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000122750" "0" "70" "1" "94528151" "94528151" "subst" "0" "01695" "ABCA4_000265" "g.94528151G>A" "" "{PMID:Schindler 2010:20647261}" "" "Pro640Leu CCC>CTC" "" "Germline" "?" "" "0" "" "" "g.94062595G>A" "" "likely pathogenic" ""
"0000122751" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Schindler 2010:20647261}" "" "Gly1961Glu GGA>GAA" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000122752" "0" "70" "1" "94495008" "94495008" "subst" "0" "01695" "ABCA4_000055" "g.94495008G>C" "" "{PMID:Schindler 2010:20647261}" "" "Pro1511Arg CCC>CGC" "" "Germline" "?" "" "0" "" "" "g.94029452G>C" "" "likely pathogenic" ""
"0000122753" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Schindler 2010:20647261}" "" "Gly1961Glu GGA>GAA" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000122754" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "24, 119274, 0, 0.0002012" "{PMID:Schindler 2010:20647261}" "" "Pro1380Leu CCG>CTG" "" "Germline" "?" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic" ""
"0000122755" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Schindler 2010:20647261}" "" "Gly1961Glu GGA>GAA" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000122756" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "26, 121404, 0, 0.0002142" "{PMID:Schindler 2010:20647261}" "" "Leu2027Phe CTC>TTC" "" "Germline" "?" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic" ""
"0000122757" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Schindler 2010:20647261}" "" "Gly1961Glu GGA>GAA" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "pathogenic" ""
"0000122758" "0" "70" "1" "94466485" "94466485" "subst" "0" "01695" "ABCA4_000830" "g.94466485C>A" "" "{PMID:Schindler 2010:20647261}" "" "IVS46-1 G>T" "" "Germline" "?" "" "0" "" "" "g.94000929C>A" "" "likely pathogenic" ""
"0000122759" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Schindler 2010:20647261}" "" "Gly1961Glu GGA>GAA" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000122760" "0" "70" "1" "94510164" "94510164" "subst" "1.62441E-5" "01695" "ABCA4_000144" "g.94510164C>T" "2, 121386, 0, 0.00001648" "{PMID:Schindler 2010:20647261}" "" "IVS20+5 G>A" "" "Germline" "?" "" "0" "" "" "g.94044608C>T" "" "likely pathogenic" ""
"0000122761" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Schindler 2010:20647261}" "" "Gly1961Glu GGA>GAA" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "pathogenic" ""
"0000122762" "0" "70" "1" "94577136" "94577136" "subst" "0" "01695" "ABCA4_000116" "g.94577136C>T" "" "{PMID:Schindler 2010:20647261}" "" "IVS2-1 G>A" "" "Germline" "?" "" "0" "" "" "g.94111580C>T" "" "likely pathogenic" ""
"0000122763" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Schindler 2010:20647261}" "" "Gly1961Glu GGA>GAA" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000122764" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Schindler 2010:20647261}" "" "Ala1038Val GCC>GTC / Leu541Pro CTA>CCA" "" "Germline" "?" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000122765" "1" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Schindler 2010:20647261}" "" "Ala1038Val GCC>GTC / Leu541Pro CTA>CCA" "" "Germline" "?" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic" ""
"0000122766" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Schindler 2010:20647261}" "" "Gly1961Glu GGA>GAA" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000122767" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Schindler 2010:20647261}" "" "Ala1038Val GCC>GTC / Leu541Pro CTA>CCA" "" "Germline" "?" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000122768" "1" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Schindler 2010:20647261}" "" "Ala1038Val GCC>GTC / Leu541Pro CTA>CCA" "" "Germline" "?" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic" ""
"0000122769" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Schindler 2010:20647261}" "" "Gly1961Glu GGA>GAA" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000122770" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Schindler 2010:20647261}" "" "Ala1038Val GCC>GTC / Leu541Pro CTA>CCA" "" "Germline" "?" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000122771" "1" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Schindler 2010:20647261}" "" "Ala1038Val GCC>GTC / Leu541Pro CTA>CCA" "" "Germline" "?" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic" ""
"0000122772" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Schindler 2010:20647261}" "" "Gly1961Glu GGA>GAA" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000122773" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Schindler 2010:20647261}" "" "Ala1038Val GCC>GTC / Leu541Pro CTA>CCA" "" "Germline" "?" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000122774" "1" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Schindler 2010:20647261}" "" "Ala1038Val GCC>GTC / Leu541Pro CTA>CCA" "" "Germline" "?" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic" ""
"0000122775" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "24, 119274, 0, 0.0002012" "{PMID:Schindler 2010:20647261}" "" "Pro1380Leu CCG>CTG" "" "Germline" "-" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic" ""
"0000122776" "0" "70" "1" "94522239" "94522239" "subst" "2.03305E-5" "01695" "ABCA4_000736" "g.94522239A>T" "1, 119332, 0, 0.00000838" "{PMID:Schindler 2010:20647261}" "" "Val767Asp GTC->GAC" "" "Germline" "?" "" "0" "" "" "g.94056683A>T" "" "likely pathogenic" ""
"0000122777" "0" "50" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "24, 119274, 0, 0.0002012" "{PMID:Schindler 2010:20647261}" "" "Pro1380Leu CCG>CTG" "found no variant 2nd chromosome" "Germline" "-" "" "0" "" "" "g.94031110G>A" "" "VUS" ""
"0000122778" "0" "50" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "24, 119274, 0, 0.0002012" "{PMID:Schindler 2010:20647261}" "" "Pro1380Leu CCG>CTG" "found no variant 2nd chromosome" "Germline" "-" "" "0" "" "" "g.94031110G>A" "" "VUS" ""
"0000122779" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "24, 119274, 0, 0.0002012" "{PMID:Schindler 2010:20647261}" "" "Pro1380Leu CCG>CTG" "" "Germline" "-" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic" ""
"0000122780" "0" "70" "1" "94520723" "94520723" "subst" "0" "01695" "ABCA4_000716" "g.94520723A>C" "" "{PMID:Schindler 2010:20647261}" "" "Leu844Arg CTC>CGC" "" "Germline" "?" "" "0" "" "" "g.94055167A>C" "" "likely pathogenic" ""
"0000122781" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "24, 119274, 0, 0.0002012" "{PMID:Schindler 2010:20647261}" "" "Pro1380Leu CCG>CTG" "" "Germline" "-" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic" ""
"0000122782" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "26, 121404, 0, 0.0002142" "{PMID:Schindler 2010:20647261}" "" "Leu2027Phe CTC>TTC" "" "Germline" "?" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic" ""
"0000122783" "0" "90" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "24, 119274, 0, 0.0002012" "{PMID:Schindler 2010:20647261}" "" "Pro1380Leu CCG>CTG" "" "Germline" "-" "" "0" "" "" "g.94031110G>A" "" "pathogenic" ""
"0000122784" "0" "70" "1" "94497551" "94497551" "subst" "0" "01695" "ABCA4_000586" "g.94497551A>T" "" "{PMID:Schindler 2010:20647261}" "" "Leu1304Stop TTG>TAG" "" "Germline" "?" "" "0" "" "" "g.94031995A>T" "" "likely pathogenic" ""
"0000122785" "0" "90" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "24, 119274, 0, 0.0002012" "{PMID:Schindler 2010:20647261}" "" "Pro1380Leu CCG>CTG" "" "Germline" "-" "" "0" "" "" "g.94031110G>A" "" "pathogenic" ""
"0000122786" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "42, 120772, 0, 0.0003478" "{PMID:Schindler 2010:20647261}" "" "IVS40+5 G>A" "" "Germline" "?" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic" ""
"0000122787" "0" "90" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "24, 119274, 0, 0.0002012" "{PMID:Schindler 2010:20647261}" "" "Pro1380Leu CCG>CTG" "" "Germline" "-" "" "0" "" "" "g.94031110G>A" "" "pathogenic" ""
"0000122788" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "42, 120772, 0, 0.0003478" "{PMID:Schindler 2010:20647261}" "" "IVS40+5 G>A" "" "Germline" "?" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic" ""
"0000122789" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "24, 119274, 0, 0.0002012" "{PMID:Schindler 2010:20647261}" "" "Pro1380Leu CCG>CTG" "" "Germline" "-" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic" ""
"0000122790" "0" "70" "1" "94467467" "94467467" "subst" "4.06164E-6" "01695" "ABCA4_000780" "g.94467467G>A" "" "{PMID:Schindler 2010:20647261}" "" "Arg2077Trp CGG>TGG" "" "Germline" "?" "" "0" "" "" "g.94001911G>A" "" "likely pathogenic" ""
"0000122791" "0" "50" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "42, 120772, 0, 0.0003478" "{PMID:Schindler 2010:20647261}" "" "IVS40+5 G>A" "found no variant 2nd chromosome" "Germline" "-" "" "0" "" "" "g.94010795C>T" "" "VUS" ""
"0000122792" "0" "50" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "42, 120772, 0, 0.0003478" "{PMID:Schindler 2010:20647261}" "" "IVS40+5 G>A" "found no variant 2nd chromosome" "Germline" "-" "" "0" "" "" "g.94010795C>T" "" "VUS" ""
"0000122793" "0" "50" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "42, 120772, 0, 0.0003478" "{PMID:Schindler 2010:20647261}" "" "IVS40+5 G>A" "found no variant 2nd chromosome" "Germline" "-" "" "0" "" "" "g.94010795C>T" "" "VUS" ""
"0000122794" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "42, 120772, 0, 0.0003478" "{PMID:Schindler 2010:20647261}" "" "IVS40+5 G>A" "" "Germline" "-" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic" ""
"0000122795" "0" "90" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "26, 121404, 0, 0.0002142" "{PMID:Schindler 2010:20647261}" "" "Leu2027Phe CTC>TTC" "" "Germline" "?" "" "0" "" "" "g.94005509G>A" "" "pathogenic" ""
"0000122796" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "42, 120772, 0, 0.0003478" "{PMID:Schindler 2010:20647261}" "" "IVS40+5 G>A" "" "Germline" "-" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic" ""
"0000122797" "0" "90" "1" "94474314" "94474314" "subst" "0" "01695" "ABCA4_000406" "g.94474314A>G" "" "{PMID:Schindler 2010:20647261}" "" "Leu1943Pro 5828T>C" "" "Germline" "?" "" "0" "" "" "g.94008758A>G" "" "pathogenic" ""
"0000122798" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "42, 120772, 0, 0.0003478" "{PMID:Schindler 2010:20647261}" "" "IVS40+5 G>A" "" "Germline" "-" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic" ""
"0000122799" "0" "90" "1" "94467467" "94467467" "subst" "4.06164E-6" "01695" "ABCA4_000780" "g.94467467G>A" "" "{PMID:Schindler 2010:20647261}" "" "Arg2077Trp CGG>TGG" "" "Germline" "?" "" "0" "" "" "g.94001911G>A" "" "pathogenic" ""
"0000122800" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "42, 120772, 0, 0.0003478" "{PMID:Schindler 2010:20647261}" "" "IVS40+5 G>A" "" "Germline" "-" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic" ""
"0000122801" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Schindler 2010:20647261}" "" "Ala1038Val GCC>GTC / Leu541Pro CTA>CCA" "" "Germline" "?" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000122802" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Schindler 2010:20647261}" "" "Ala1038Val GCC>GTC / Leu541Pro CTA>CCA" "" "Germline" "?" "" "0" "" "" "g.94043413G>A" "" "pathogenic" ""
"0000122803" "1" "50" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Schindler 2010:20647261}" "" "Ala1038Val GCC>GTC / Leu541Pro CTA>CCA" "" "Germline" "-" "" "0" "" "" "g.94063250A>G" "" "VUS" ""
"0000122804" "1" "50" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Schindler 2010:20647261}" "" "Ala1038Val GCC>GTC / Leu541Pro CTA>CCA" "" "Germline" "-" "" "0" "" "" "g.94043413G>A" "" "VUS" ""
"0000122805" "0" "70" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "13, 121216, 0, 0.0001072" "{PMID:Schindler 2010:20647261}" "" "Val256Val GTG>GTT" "" "Germline" "?" "" "0" "" "" "g.94098794C>A" "" "likely pathogenic" ""
"0000122806" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Schindler 2010:20647261}" "" "Ala1038Val GCC>GTC / Leu541Pro CTA>CCA" "found no variant 2nd chromosome" "Germline" "-" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000122807" "1" "50" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Schindler 2010:20647261}" "" "Ala1038Val GCC>GTC / Leu541Pro CTA>CCA" "" "Germline" "-" "" "0" "" "" "g.94043413G>A" "" "VUS" ""
"0000122808" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Schindler 2010:20647261}" "" "Ala1038Val GCC>GTC / Leu541Pro CTA>CCA" "found no variant 2nd chromosome" "Germline" "-" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000122809" "1" "50" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Schindler 2010:20647261}" "" "Ala1038Val GCC>GTC / Leu541Pro CTA>CCA" "" "Germline" "-" "" "0" "" "" "g.94043413G>A" "" "VUS" ""
"0000122810" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Schindler 2010:20647261}" "" "Ala1038Val GCC>GTC / Leu541Pro CTA>CCA" "found no variant 2nd chromosome" "Germline" "-" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000122811" "1" "50" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Schindler 2010:20647261}" "" "Ala1038Val GCC>GTC / Leu541Pro CTA>CCA" "" "Germline" "-" "" "0" "" "" "g.94043413G>A" "" "VUS" ""
"0000122812" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Schindler 2010:20647261}" "" "Ala1038Val GCC>GTC / Leu541Pro CTA>CCA" "" "Germline" "-" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000122813" "1" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Schindler 2010:20647261}" "" "Ala1038Val GCC>GTC / Leu541Pro CTA>CCA" "" "Germline" "-" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic" ""
"0000122814" "0" "70" "1" "94526301" "94526301" "subst" "0" "01695" "ABCA4_000769" "g.94526301A>C" "" "{PMID:Schindler 2010:20647261}" "" "Leu651Arg 1952T>G" "" "Germline" "?" "" "0" "" "" "g.94060745A>C" "" "likely pathogenic" ""
"0000122815" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Schindler 2010:20647261}" "" "Ala1038Val GCC>GTC / Leu541Pro CTA>CCA" "" "Germline" "-" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000122816" "1" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Schindler 2010:20647261}" "" "Ala1038Val GCC>GTC / Leu541Pro CTA>CCA" "" "Germline" "-" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic" ""
"0000122817" "0" "70" "1" "94496580" "94496580" "subst" "0" "01695" "ABCA4_000564" "g.94496580T>C" "" "{PMID:Schindler 2010:20647261}" "" "Ile1409Val ATA>GTA" "" "Germline" "?" "" "0" "" "" "g.94031024T>C" "" "likely pathogenic" ""
"0000122818" "0" "50" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "173, 121304, 0, 0.001426" "{PMID:Schindler 2010:20647261}" "" "Ala1038Val GCC>GTC" "found no variant 2nd chromosome" "Germline" "-" "" "0" "" "" "g.94043413G>A" "" "VUS" ""
"0000122819" "0" "50" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "173, 121304, 0, 0.001426" "{PMID:Schindler 2010:20647261}" "" "Ala1038Val GCC>GTC" "found no variant 2nd chromosome" "Germline" "-" "" "0" "" "" "g.94043413G>A" "" "VUS" ""
"0000122820" "0" "50" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "173, 121304, 0, 0.001426" "{PMID:Schindler 2010:20647261}" "" "Ala1038Val GCC>GTC" "found no variant 2nd chromosome" "Germline" "-" "" "0" "" "" "g.94043413G>A" "" "VUS" ""
"0000122821" "0" "50" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "173, 121304, 0, 0.001426" "{PMID:Schindler 2010:20647261}" "" "Ala1038Val GCC>GTC" "found no variant 2nd chromosome" "Germline" "-" "" "0" "" "" "g.94043413G>A" "" "VUS" ""
"0000122822" "0" "50" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "173, 121304, 0, 0.001426" "{PMID:Schindler 2010:20647261}" "" "Ala1038Val GCC>GTC" "found no variant 2nd chromosome" "Germline" "-" "" "0" "" "" "g.94043413G>A" "" "VUS" ""
"0000122823" "0" "50" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "173, 121304, 0, 0.001426" "{PMID:Schindler 2010:20647261}" "" "Ala1038Val GCC>GTC" "found no variant 2nd chromosome" "Germline" "-" "" "0" "" "" "g.94043413G>A" "" "VUS" ""
"0000122824" "0" "50" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "173, 121304, 0, 0.001426" "{PMID:Schindler 2010:20647261}" "" "Ala1038Val GCC>GTC" "found no variant 2nd chromosome" "Germline" "-" "" "0" "" "" "g.94043413G>A" "" "VUS" ""
"0000122825" "0" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "173, 121304, 0, 0.001426" "{PMID:Schindler 2010:20647261}" "" "Ala1038Val GCC>GTC" "" "Germline" "-" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic" ""
"0000122826" "0" "30" "1" "94528248" "94528248" "subst" "1.22148E-5" "01695" "ABCA4_000279" "g.94528248A>T" "1, 119894, 0, 0.000008341" "{PMID:Schindler 2010:20647261}" "" "Phe608Ile TTT>ATT" "" "Germline" "?" "" "0" "" "" "g.94062692A>T" "" "likely benign" ""
"0000122827" "0" "50" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "26, 121404, 0, 0.0002142" "{PMID:Schindler 2010:20647261}" "" "Leu2027Phe CTC>TTC" "" "Germline" "-" "" "0" "" "" "g.94005509G>A" "" "VUS" ""
"0000122828" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "26, 121404, 0, 0.0002142" "{PMID:Schindler 2010:20647261}" "" "Leu2027Phe CTC>TTC" "" "Germline" "-" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic" ""
"0000122829" "0" "70" "1" "94528248" "94528248" "subst" "1.22148E-5" "01695" "ABCA4_000279" "g.94528248A>T" "1, 119894, 0, 0.000008341" "{PMID:Schindler 2010:20647261}" "" "Phe608Ile TTT>ATT" "" "Germline" "?" "" "0" "" "" "g.94062692A>T" "" "likely pathogenic" ""
"0000122830" "0" "90" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "26, 121404, 0, 0.0002142" "{PMID:Schindler 2010:20647261}" "" "Leu2027Phe CTC>TTC" "" "Germline" "-" "" "0" "" "" "g.94005509G>A" "" "pathogenic" ""
"0000122831" "0" "70" "1" "94528164" "94528164" "subst" "2.03336E-5" "01695" "ABCA4_000267" "g.94528164G>A" "" "{PMID:Schindler 2010:20647261}" "" "Gln636Stop CAG>TAG" "" "Germline" "?" "" "0" "" "" "g.94062608G>A" "" "likely pathogenic" ""
"0000122832" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "26, 121404, 0, 0.0002142" "{PMID:Schindler 2010:20647261}" "" "Leu2027Phe CTC>TTC" "" "Germline" "-" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic" ""
"0000122833" "0" "70" "1" "94495078" "94495078" "subst" "8.37044E-6" "01695" "ABCA4_000042" "g.94495078A>G" "1, 70400, 0, 0.0000142" "{PMID:Schindler 2010:20647261}" "" "Cys1488Arg TGC>CGC" "" "Germline" "?" "" "0" "" "" "g.94029522A>G" "" "likely pathogenic" ""
"0000122834" "0" "50" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "14, 121282, 0, 0.0001154" "{PMID:Schindler 2010:20647261}" "" "Arg1108Cys CGC>TGC" "found no variant 2nd chromosome" "Germline" "-" "" "0" "" "" "g.94042767G>A" "" "VUS" ""
"0000122835" "0" "30" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "14, 121282, 0, 0.0001154" "{PMID:Schindler 2010:20647261}" "" "Arg1108Cys CGC>TGC" "" "Germline" "-" "" "0" "" "" "g.94042767G>A" "" "likely benign" ""
"0000122836" "0" "70" "1" "94505604" "94505604" "subst" "0.00645586" "01695" "ABCA4_000092" "g.94505604A>C" "879, 64452, 44, 0.01364" "{PMID:Schindler 2010:20647261}" "" "Leu1201Arg CTG>CGG" "" "Germline" "?" "" "0" "" "" "g.94040048A>C" "" "likely pathogenic" ""
"0000122837" "0" "70" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "14, 121282, 0, 0.0001154" "{PMID:Schindler 2010:20647261}" "" "Arg1108Cys CGC>TGC" "" "Germline" "-" "" "0" "" "" "g.94042767G>A" "" "likely pathogenic" ""
"0000122838" "1" "50" "1" "94520694" "94520694" "subst" "8.12414E-6" "01695" "ABCA4_000712" "g.94520694C>T" "" "{PMID:Schindler 2010:20647261}" "" "Ala1038Val GCC>GTC / Ala854Thr GCT>ACT" "" "Germline" "?" "" "0" "" "" "g.94055138C>T" "" "VUS" ""
"0000122839" "1" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Schindler 2010:20647261}" "" "Ala1038Val GCC>GTC / Ala854Thr GCT>ACT" "" "Germline" "?" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic" ""
"0000122840" "0" "50" "1" "94476377" "94476377" "subst" "0.00160473" "01695" "ABCA4_000411" "g.94476377C>T" "216, 121058, 1, 0.001784" "{PMID:Schindler 2010:20647261}" "" "Arg1898His CGC>CAC" "On its own not significantely found more often in published STGD compared to ExAC (p-value 0.39). However, together with other non-significant variants published related to STGD, they are significantly more often in STGD patients (p-value <0.01); found no variant 2nd chromosome" "Germline" "-" "" "0" "" "" "g.94010821C>T" "" "VUS" ""
"0000122841" "0" "50" "1" "94476377" "94476377" "subst" "0.00160473" "01695" "ABCA4_000411" "g.94476377C>T" "216, 121058, 1, 0.001784" "{PMID:Schindler 2010:20647261}" "" "Arg1898His CGC>CAC" "On its own not significantely found more often in published STGD compared to ExAC (p-value 0.39). However, together with other non-significant variants published related to STGD, they are significantly more often in STGD patients (p-value <0.01); found no variant 2nd chromosome" "Germline" "-" "" "0" "" "" "g.94010821C>T" "" "VUS" ""
"0000122842" "0" "50" "1" "94476377" "94476377" "subst" "0.00160473" "01695" "ABCA4_000411" "g.94476377C>T" "216, 121058, 1, 0.001784" "{PMID:Schindler 2010:20647261}" "" "Arg1898His CGC>CAC" "On its own not significantely found more often in published STGD compared to ExAC (p-value 0.39). However, together with other non-significant variants published related to STGD, they are significantly more often in STGD patients (p-value <0.01); found no variant 2nd chromosome" "Germline" "-" "" "0" "" "" "g.94010821C>T" "" "VUS" ""
"0000122843" "0" "50" "1" "94476377" "94476377" "subst" "0.00160473" "01695" "ABCA4_000411" "g.94476377C>T" "216, 121058, 1, 0.001784" "{PMID:Schindler 2010:20647261}" "" "Arg1898His CGC>CAC" "On its own not significantely found more often in published STGD compared to ExAC (p-value 0.39). However, together with other non-significant variants published related to STGD, they are significantly more often in STGD patients (p-value <0.01); found no variant 2nd chromosome" "Germline" "-" "" "0" "" "" "g.94010821C>T" "" "VUS" ""
"0000122844" "0" "50" "1" "94505604" "94505604" "subst" "0.00645586" "01695" "ABCA4_000092" "g.94505604A>C" "879, 64452, 44, 0.01364" "{PMID:Schindler 2010:20647261}" "" "Leu1201Arg CTG>CGG" "" "Germline" "-" "" "0" "" "" "g.94040048A>C" "" "VUS" ""
"0000122845" "0" "30" "1" "94505604" "94505604" "subst" "0.00645586" "01695" "ABCA4_000092" "g.94505604A>C" "879, 64452, 44, 0.01364" "{PMID:Schindler 2010:20647261}" "" "Leu1201Arg CTG>CGG" "" "Germline" "-" "" "0" "" "" "g.94040048A>C" "" "likely benign" ""
"0000122846" "0" "30" "1" "94564500" "94564500" "subst" "0.00100414" "01695" "ABCA4_000069" "g.94564500G>C" "162, 118200, 0, 0.001371" "{PMID:Schindler 2010:20647261}" "" "Ser206Arg AGC>AGG" "" "Germline" "?" "" "0" "" "" "g.94098944G>C" "" "likely benign" ""
"0000122847" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "13, 121216, 0, 0.0001072" "{PMID:Schindler 2010:20647261}" "" "Val256Val GTG>GTT" "" "Germline" "-" "" "0" "" "" "g.94098794C>A" "" "pathogenic" ""
"0000122848" "0" "50" "1" "94568687" "94568687" "subst" "1.62641E-5" "01695" "ABCA4_000024" "g.94568687G>A" "1, 120844, 0, 0.000008275" "{PMID:Schindler 2010:20647261}" "" "Arg152Stop CGA>TGA" "" "Germline" "?" "" "0" "" "" "g.94103131G>A" "" "VUS" ""
"0000122849" "0" "70" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "21, 121302, 0, 0.0001731" "{PMID:Schindler 2010:20647261}" "" "Asn965Ser AAT>AGT" "" "Germline" "-" "" "0" "" "" "g.94046943T>C" "" "likely pathogenic" ""
"0000122850" "0" "70" "1" "94467467" "94467467" "subst" "4.06164E-6" "01695" "ABCA4_000780" "g.94467467G>A" "" "{PMID:Schindler 2010:20647261}" "" "Arg2077Trp CGG>TGG" "" "Germline" "?" "" "0" "" "" "g.94001911G>A" "" "likely pathogenic" ""
"0000122851" "0" "50" "1" "94526296" "94526296" "subst" "1.64555E-5" "01695" "ABCA4_000768" "g.94526296G>A" "1, 96614, 0, 0.00001035" "{PMID:Schindler 2010:20647261}" "" "Arg653Cys CGC>TGC" "found no variant 2nd chromosome" "Germline" "-" "" "0" "" "" "g.94060740G>A" "" "VUS" ""
"0000122852" "0" "50" "1" "94526212" "94526212" "subst" "1.22012E-5" "01695" "ABCA4_000075" "g.94526212G>A" "3, 120836, 0, 0.00002483" "{PMID:Schindler 2010:20647261}" "" "Arg681Stop CGA>TGA" "found no variant 2nd chromosome" "Germline" "-" "" "0" "" "" "g.94060656G>A" "" "VUS" ""
"0000122853" "0" "50" "1" "94526212" "94526212" "subst" "1.22012E-5" "01695" "ABCA4_000075" "g.94526212G>A" "3, 120836, 0, 0.00002483" "{PMID:Schindler 2010:20647261}" "" "Arg681Stop CGA>TGA" "found no variant 2nd chromosome" "Germline" "-" "" "0" "" "" "g.94060656G>A" "" "VUS" ""
"0000122854" "0" "50" "1" "94466422" "94466422" "subst" "2.43651E-5" "01695" "ABCA4_000817" "g.94466422C>T" "3, 121398, 0, 0.00002471" "{PMID:Schindler 2010:20647261}" "" "Cys2150Tyr TGT>TAT" "found no variant 2nd chromosome" "Germline" "-" "" "0" "" "" "g.94000866C>T" "" "VUS" ""
"0000122855" "0" "70" "1" "94466422" "94466422" "subst" "2.43651E-5" "01695" "ABCA4_000817" "g.94466422C>T" "3, 121398, 0, 0.00002471" "{PMID:Schindler 2010:20647261}" "" "Cys2150Tyr TGT>TAT" "" "Germline" "-" "" "0" "" "" "g.94000866C>T" "" "likely pathogenic" ""
"0000122856" "0" "70" "1" "94495077" "94495077" "subst" "8.39461E-6" "01695" "ABCA4_000541" "g.94495077C>A" "1, 68804, 0, 0.00001453" "{PMID:Schindler 2010:20647261}" "" "Cys1488Phe TGC>TTC" "" "Germline" "?" "" "0" "" "" "g.94029521C>A" "" "likely pathogenic" ""
"0000122857" "0" "50" "1" "94528248" "94528248" "subst" "1.22148E-5" "01695" "ABCA4_000279" "g.94528248A>T" "1, 119894, 0, 0.000008341" "{PMID:Schindler 2010:20647261}" "" "Phe608Ile TTT>ATT" "found no variant 2nd chromosome" "Germline" "-" "" "0" "" "" "g.94062692A>T" "" "VUS" ""
"0000122858" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "15, 121412, 0, 0.0001235" "{PMID:Schindler 2010:20647261}" "" "Leu541Pro CTA>CCA" "found no variant 2nd chromosome" "Germline" "-" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000122859" "0" "50" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "30, 121388, 0, 0.0002471" "{PMID:Schindler 2010:20647261}" "" "Arg1129Leu CGC>CTC" "found no variant 2nd chromosome" "Germline" "-" "" "0" "" "" "g.94041345C>A" "" "VUS" ""
"0000122860" "0" "50" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "30, 121388, 0, 0.0002471" "{PMID:Schindler 2010:20647261}" "" "Arg1129Stop CGA>TGA" "found no variant 2nd chromosome" "Germline" "-" "" "0" "" "" "g.94041345C>A" "" "VUS" ""
"0000122861" "0" "50" "1" "94526211" "94526211" "subst" "2.43974E-5" "01695" "ABCA4_000758" "g.94526211C>T" "2, 120882, 0, 0.00001655" "{PMID:Schindler 2010:20647261}" "" "Arg681Gln CGA>CAA" "found no variant 2nd chromosome" "Germline" "-" "" "0" "" "" "g.94060655C>T" "" "VUS" ""
"0000122862" "0" "90" "1" "94528137" "94528137" "subst" "2.03363E-5" "01695" "ABCA4_000774" "g.94528137C>T" "1, 121050, 0, 0.000008261" "{PMID:Schindler 2010:20647261}" "" "Asp645Asn GAT>AAT" "" "Germline" "-" "" "0" "" "" "g.94062581C>T" "" "pathogenic" ""
"0000122863" "0" "70" "1" "94526265" "94526265" "subst" "0" "01695" "ABCA4_000143" "g.94526265C>T" "" "{PMID:Schindler 2010:20647261}" "" "Trp663Stop TGG>TAG" "" "Germline" "?" "" "0" "" "" "g.94060709C>T" "" "likely pathogenic" ""
"0000122864" "0" "50" "1" "94495177" "94495177" "subst" "1.22342E-5" "01695" "ABCA4_000023" "g.94495177A>G" "2, 109474, 0, 0.00001827" "{PMID:Schindler 2010:20647261}" "" "Cys1455Arg TGT>CGT" "found no variant 2nd chromosome" "Germline" "-" "" "0" "" "" "g.94029621A>G" "" "VUS" ""
"0000122865" "0" "50" "1" "94496571" "94496571" "subst" "4.06174E-6" "01695" "ABCA4_000111" "g.94496571G>A" "" "{PMID:Schindler 2010:20647261}" "" "Gln1412Stop CAG>TAG" "" "Germline" "-" "" "0" "" "" "g.94031015G>A" "" "VUS" ""
"0000122866" "0" "90" "1" "94476413" "94476413" "subst" "0" "01695" "ABCA4_000415" "g.94476413C>T" "" "{PMID:Schindler 2010:20647261}" "" "Gly1886Glu GGG>GAG" "" "Germline" "-" "" "0" "" "" "g.94010857C>T" "" "pathogenic" ""
"0000122867" "0" "70" "1" "94480100" "94480100" "subst" "8.1217E-6" "01695" "ABCA4_000438" "g.94480100C>G" "1, 121402, 0, 0.000008237" "{PMID:Schindler 2010:20647261}" "" "Arg1820Pro CGG>CCG" "" "Germline" "?" "" "0" "" "" "g.94014544C>G" "" "likely pathogenic" ""
"0000122868" "0" "70" "1" "94528780" "94528780" "subst" "4.06171E-6" "01695" "ABCA4_000299" "g.94528780C>T" "1, 121410, 0, 0.000008237" "{PMID:Schindler 2010:20647261}" "" "Gly550Arg GGA>AGA" "found no variant 2nd chromosome" "Germline" "-" "" "0" "" "" "g.94063224C>T" "" "likely pathogenic" ""
"0000122869" "0" "90" "1" "94528251" "94528251" "subst" "2.84824E-5" "01695" "ABCA4_000281" "g.94528251C>T" "3, 119908, 0, 0.00002502" "{PMID:Schindler 2010:20647261}" "" "Gly607Arg GGG>AGG" "found no variant 2nd chromosome" "Germline" "-" "" "0" "" "" "g.94062695C>T" "" "pathogenic" ""
"0000122870" "0" "70" "1" "94512611" "94512611" "subst" "0" "01695" "ABCA4_000697" "g.94512611C>A" "" "{PMID:Schindler 2010:20647261}" "" "Gly928Trp GGG>TGG" "" "Germline" "-" "" "0" "" "" "g.94047055C>A" "" "likely pathogenic" ""
"0000122871" "0" "70" "1" "94512524" "94512524" "subst" "0" "01695" "ABCA4_000689" "g.94512524G>T" "" "{PMID:Schindler 2010:20647261}" "" "Gln957Lys CAG>AAG" "" "Germline" "?" "" "0" "" "" "g.94046968G>T" "" "likely pathogenic" ""
"0000122872" "0" "50" "1" "94526092" "94526092" "subst" "0" "01695" "ABCA4_000749" "g.94526092C>A" "" "{PMID:Schindler 2010:20647261}" "" "IVS14+1 G>T" "found no variant 2nd chromosome" "Germline" "-" "" "0" "" "" "g.94060536C>A" "" "VUS" ""
"0000122873" "0" "50" "1" "94495000" "94495000" "subst" "0" "01695" "ABCA4_000164" "g.94495000C>A" "" "{PMID:Schindler 2010:20647261}" "" "IVS30+1 G>T" "found no variant 2nd chromosome" "Germline" "-" "" "0" "" "" "g.94029444C>A" "" "VUS" ""
"0000122874" "0" "70" "1" "94508435" "94508436" "dup" "0" "01695" "ABCA4_000998" "g.94508435_94508436dup" "" "{PMID:Schindler 2010:20647261}" "" "Leu1070 ins2cTG" "" "Germline" "-" "" "0" "" "" "g.94042879_94042880dup" "" "likely pathogenic" ""
"0000122875" "0" "90" "1" "94471055" "94471055" "subst" "0.00035346" "01695" "ABCA4_000029" "g.94471055C>T" "47, 121404, 1, 0.0003871" "{PMID:Schindler 2010:20647261}" "" "Arg2030Gln CGA>CAA" "" "Germline" "?" "" "0" "" "" "g.94005499C>T" "" "pathogenic" ""
"0000122876" "3" "90" "1" "94496047" "94496047" "del" "0" "01695" "ABCA4_000553" "g.94496047del" "" "{PMID:Schindler 2010:20647261}" "" "Leu1430 del1 cT" "" "Germline" "?" "" "0" "" "" "g.94030491del" "" "pathogenic" ""
"0000122877" "0" "50" "1" "94476424" "94476424" "subst" "2.43694E-5" "01695" "ABCA4_000418" "g.94476424C>T" "" "{PMID:Schindler 2010:20647261}" "" "Met1882Ile ATG>ATA" "found no variant 2nd chromosome" "Germline" "-" "" "0" "" "" "g.94010868C>T" "" "VUS" ""
"0000122878" "0" "70" "1" "94526296" "94526296" "subst" "1.64555E-5" "01695" "ABCA4_000768" "g.94526296G>A" "1, 96614, 0, 0.00001035" "{PMID:Schindler 2010:20647261}" "" "Arg653Cys CGC>TGC" "" "Germline" "-" "" "0" "" "" "g.94060740G>A" "" "likely pathogenic" ""
"0000122879" "0" "70" "1" "94526286" "94526286" "subst" "0" "01695" "ABCA4_000766" "g.94526286G>A" "" "{PMID:Schindler 2010:20647261}" "" "Pro656Leu CCT>CTT" "" "Germline" "?" "" "0" "" "" "g.94060730G>A" "" "likely pathogenic" ""
"0000122880" "0" "50" "1" "94509026" "94509026" "subst" "4.06497E-5" "01695" "ABCA4_000660" "g.94509026G>A" "5, 120988, 0, 0.00004133" "{PMID:Schindler 2010:20647261}" "" "Thr1019Met ACG>ATG" "found no variant 2nd chromosome" "Germline" "-" "" "0" "" "" "g.94043470G>A" "" "VUS" ""
"0000122881" "0" "50" "1" "94486944" "94486944" "subst" "0" "01695" "ABCA4_000039" "g.94486944A>C" "" "{PMID:Schindler 2010:20647261}" "" "Trp1624Gly TGG>GGG" "found no variant 2nd chromosome" "Germline" "-" "" "0" "" "" "g.94021388A>C" "" "VUS" ""
"0000122882" "0" "50" "1" "94564383" "94564383" "subst" "0" "01695" "ABCA4_000371" "g.94564383A>C" "" "{PMID:Schindler 2010:20647261}" "" "Tyr245Stop TAT>TAG" "found no variant 2nd chromosome" "Germline" "-" "" "0" "" "" "g.94098827A>C" "" "VUS" ""
"0000122883" "0" "50" "1" "94528278" "94528278" "subst" "8.14571E-5" "01695" "ABCA4_000286" "g.94528278C>T" "11, 117906, 0, 0.00009329" "{PMID:Schindler 2010:20647261}" "" "Val598Met GTG>ATG" "On its own not significantely found more often in published STGD compared to ExAC (p-value 0.78). However, together with other non-significant variants published related to STGD, they are significantly more often in STGD patients (p-value <0.01);found no variant 2nd chromosome" "Germline" "-" "" "0" "" "" "g.94062722C>T" "" "VUS" ""
"0000122884" "0" "70" "1" "94526296" "94526296" "subst" "1.64555E-5" "01695" "ABCA4_000768" "g.94526296G>A" "1, 96614, 0, 0.00001035" "{PMID:Schindler 2010:20647261}" "" "Arg653Cys CGC>TGC" "" "Germline" "-" "" "0" "" "" "g.94060740G>A" "" "likely pathogenic" ""
"0000122885" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "26, 121404, 0, 0.0002142" "{PMID:Schindler 2010:20647261}" "" "Leu2027Phe CTC>TTC" "" "Germline" "?" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic" ""
"0000122886" "0" "50" "1" "94528142" "94528142" "subst" "0.00153303" "01695" "ABCA4_000125" "g.94528142A>C" "163, 121098, 1, 0.001346" "{PMID:Schindler 2010:20647261}" "" "Val643Gly GTG>GGG" "found no variant 2nd chromosome" "Germline" "-" "" "0" "" "" "g.94062586A>C" "" "VUS" ""
"0000122887" "3" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Burke 2010:20696155}" "" "G1961E" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000122888" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Burke 2010:20696155}, {PMID:Burke 2014:24677105}, {PMID:Nõupuu 2014:25301883}" "" "G1961E" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "pathogenic" ""
"0000122889" "0" "70" "1" "94473189" "94473189" "subst" "0" "01695" "ABCA4_000385" "g.94473189C>A" "" "{PMID:Burke 2010:20696155}, {PMID:Burke 2014:24677105}, {PMID:Nõupuu 2014:25301883}" "" "IVS43+1G>T" "" "Germline" "?" "" "0" "" "" "g.94007633C>A" "" "likely pathogenic" ""
"0000122890" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Burke 2010:20696155}, {PMID:Burke 2014:24677105}, {PMID:Nõupuu 2014:25301883}" "" "L541P/A1038V" "" "Germline" "-" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000122891" "1" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Burke 2010:20696155}, {PMID:Burke 2014:24677105}, {PMID:Nõupuu 2014:25301883}" "" "L541P/A1038V" "" "Germline" "-" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic" ""
"0000122892" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Burke 2010:20696155}, {PMID:Burke 2014:24677105}, {PMID:Nõupuu 2014:25301883}" "" "G1961E" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000122893" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Burke 2010:20696155}" "" "L541P/A1038V" "" "Germline" "-" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000122894" "1" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Burke 2010:20696155}" "" "L541P/A1038V" "" "Germline" "-" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic" ""
"0000122895" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Burke 2010:20696155}" "" "G1961E" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000122896" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Burke 2010:20696155}" "" "L541P/A1038V" "" "Germline" "-" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000122897" "1" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Burke 2010:20696155}" "" "L541P/A1038V" "" "Germline" "-" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic" ""
"0000122898" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Burke 2010:20696155}" "" "G1961E" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000122899" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Burke 2010:20696155}" "" "L541P/A1038V" "" "Germline" "-" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000122900" "1" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Burke 2010:20696155}" "" "L541P/A1038V" "" "Germline" "-" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic" ""
"0000122901" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Burke 2010:20696155}" "" "G1961E" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000122902" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Burke 2010:20696155}" "" "G1961E" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000122903" "0" "70" "1" "94467467" "94467467" "subst" "4.06164E-6" "01695" "ABCA4_000780" "g.94467467G>A" "" "{PMID:Burke 2010:20696155}" "" "R2077W" "" "Germline" "?" "" "0" "" "" "g.94001911G>A" "" "likely pathogenic" ""
"0000122904" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Burke 2010:20696155}" "" "G1961E" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000122905" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Burke 2010:20696155}" "" "L541P/A1038V" "" "Germline" "?" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000122906" "1" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Burke 2010:20696155}" "" "L541P/A1038V" "" "Germline" "?" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic" ""
"0000122907" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Burke 2010:20696155}" "" "G1961E" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000122908" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Burke 2010:20696155}" "" "L541P/A1038V" "" "Germline" "?" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000122909" "1" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Burke 2010:20696155}" "" "L541P/A1038V" "" "Germline" "?" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic" ""
"0000122910" "3" "70" "1" "94528265" "94528265" "subst" "2.44212E-5" "01695" "ABCA4_000284" "g.94528265C>T" "2, 119074, 0, 0.0000168" "{PMID:Burke 2010:20696155}" "" "R602Q" "" "Germline" "?" "" "0" "" "" "g.94062709C>T" "" "likely pathogenic" ""
"0000122911" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Burke 2010:20696155}" "" "L541P/A1038V" "found no variant 2nd chromosome" "Germline" "-" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000122912" "1" "50" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Burke 2010:20696155}" "" "L541P/A1038V" "" "Germline" "-" "" "0" "" "" "g.94043413G>A" "" "VUS" ""
"0000122913" "0" "50" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "173, 121304, 0, 0.001426" "{PMID:Burke 2010:20696155}" "" "A1038V" "found no variant 2nd chromosome" "Germline" "-" "" "0" "" "" "g.94043413G>A" "" "VUS" ""
"0000122914" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Burke 2010:20696155}, {PMID:Nõupuu 2014:25301883}" "" "G1961E" "found no variant 2nd chromosome" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000122915" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Burke 2010:20696155}, {PMID:Nõupuu 2014:25301883}" "" "G1961E" "found no variant 2nd chromosome" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000122916" "0" "50" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "14, 120056, 0, 0.0001166" "{PMID:Burke 2010:20696155}" "" "R212C" "found no variant 2nd chromosome" "Germline" "-" "" "0" "" "" "g.94098928G>A" "" "VUS" ""
"0000122917" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "24, 119274, 0, 0.0002012" "{PMID:Burke 2010:20696155}" "" "P1380L" "" "Germline" "-" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic" ""
"0000122918" "0" "70" "1" "94486895" "94486895" "subst" "3.24923E-5" "01695" "ABCA4_000484" "g.94486895C>T" "7, 121398, 0, 0.00005766" "{PMID:Burke 2010:20696155}" "" "R1640Q" "" "Germline" "?" "" "0" "" "" "g.94021339C>T" "" "likely pathogenic" ""
"0000122919" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Burke 2010:20696155}" "" "IVS38-10T>C" "" "Germline" "-" "" "0" "" "" "g.94011395A>G" "" "pathogenic" ""
"0000122920" "0" "50" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "42, 120772, 0, 0.0003478" "{PMID:Burke 2010:20696155}" "" "IVS40+5G>A" "" "Germline" "?" "" "0" "" "" "g.94010795C>T" "" "VUS" ""
"0000122921" "1" "70" "1" "94586601" "94586601" "subst" "8.12156E-6" "01695" "ABCA4_000264" "g.94586601T>C" "" "{PMID:Burke 2010:20696155}" "" "M1V/R2030Q" "" "Germline" "-" "" "0" "" "" "g.94121045T>C" "" "likely pathogenic" ""
"0000122922" "1" "70" "1" "94471055" "94471055" "subst" "0.00035346" "01695" "ABCA4_000029" "g.94471055C>T" "" "{PMID:Burke 2010:20696155}" "" "M1V/R2030Q" "" "Germline" "-" "" "0" "" "" "g.94005499C>T" "" "likely pathogenic" ""
"0000122923" "2" "90" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "24, 119274, 0, 0.0002012" "{PMID:Burke 2010:20696155}" "" "P1380L" "" "Germline" "?" "" "0" "" "" "g.94031110G>A" "" "pathogenic" ""
"0000122924" "3" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "24, 119274, 0, 0.0002012" "{PMID:Burke 2010:20696155}" "" "P1380L" "" "Germline" "?" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic" ""
"0000122925" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Burke 2010:20696155}" "" "L541P/A1038V" "" "Germline" "-" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000122926" "1" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Burke 2010:20696155}" "" "L541P/A1038V" "" "Germline" "-" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic" ""
"0000122927" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "26, 121404, 0, 0.0002142" "{PMID:Burke 2010:20696155}" "" "L2027F" "" "Germline" "?" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic" ""
"0000122928" "0" "50" "1" "94480241" "94480241" "subst" "7.71705E-5" "01695" "ABCA4_000446" "g.94480241G>A" "14, 121408, 0, 0.0001153" "{PMID:Burke 2010:20696155}" "" "A1773V" "found no variant 2nd chromosome" "Germline" "-" "" "0" "" "" "g.94014685G>A" "" "VUS" ""
"0000122929" "0" "50" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "26, 121404, 0, 0.0002142" "{PMID:Burke 2010:20696155}" "" "L2027F" "found no variant 2nd chromosome" "Germline" "-" "" "0" "" "" "g.94005509G>A" "" "VUS" ""
"0000122930" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "6, 119038, 0, 0.0000504" "{PMID:Burke 2010:20696155}" "" "R602W" "" "Germline" "-" "" "0" "" "" "g.94062710G>A" "" "pathogenic" ""
"0000122931" "0" "70" "1" "94497564" "94497564" "subst" "1.64383E-5" "01695" "ABCA4_000091" "g.94497564G>A" "4, 118564, 0, 0.00003374" "{PMID:Burke 2010:20696155}" "" "R1300X" "" "Germline" "?" "" "0" "" "" "g.94032008G>A" "" "likely pathogenic" ""
"0000122932" "0" "90" "1" "94577135" "94577135" "subst" "2.43718E-5" "01695" "ABCA4_000240" "g.94577135C>T" "2, 121210, 0, 0.0000165" "{PMID:Burke 2010:20696155}, {PMID:Duncker 2015:26551331}" "" "C54Y" "" "Germline" "-" "" "0" "" "" "g.94111579C>T" "" "pathogenic" ""
"0000122933" "0" "90" "1" "94526092" "94526092" "subst" "0" "01695" "ABCA4_000748" "g.94526092C>G" "" "{PMID:Burke 2010:20696155}, {PMID:Duncker 2015:26551331}" "" "IVS14+1G>C" "" "Germline" "?" "" "0" "" "" "g.94060536C>G" "" "pathogenic" ""
"0000122934" "0" "90" "1" "94495009" "94495009" "del" "0" "01695" "ABCA4_000534" "g.94495009del" "" "{PMID:Burke 2010:20696155}" "" "4537delC" "" "Germline" "-" "" "0" "" "" "g.94029453del" "" "pathogenic" ""
"0000122935" "0" "90" "1" "94574256" "94574256" "subst" "2.8425E-5" "01695" "ABCA4_000040" "g.94574256G>A" "7, 121378, 0, 0.00005767" "{PMID:Burke 2010:20696155}" "" "R107X" "" "Germline" "?" "" "0" "" "" "g.94108700G>A" "" "pathogenic" ""
"0000122936" "0" "90" "1" "94495009" "94495009" "del" "0" "01695" "ABCA4_000534" "g.94495009del" "" "{PMID:Burke 2010:20696155}" "" "4537delC" "" "Germline" "-" "" "0" "" "" "g.94029453del" "" "pathogenic" ""
"0000122937" "0" "90" "1" "94574256" "94574256" "subst" "2.8425E-5" "01695" "ABCA4_000040" "g.94574256G>A" "7, 121378, 0, 0.00005767" "{PMID:Burke 2010:20696155}" "" "R107X" "" "Germline" "?" "" "0" "" "" "g.94108700G>A" "" "pathogenic" ""
"0000122938" "0" "90" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "24, 119274, 0, 0.0002012" "{PMID:Burke 2010:20696155}" "" "P1380L" "" "Germline" "-" "" "0" "" "" "g.94031110G>A" "" "pathogenic" ""
"0000122939" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "42, 120772, 0, 0.0003478" "{PMID:Burke 2010:20696155}" "" "IVS40+5G>A" "" "Germline" "?" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic" ""
"0000122940" "3" "70" "1" "94487251" "94487251" "subst" "2.85679E-5" "01695" "ABCA4_000490" "g.94487251G>T" "3, 113672, 0, 0.00002639" "{PMID:Burke 2010:20696155}" "" "A1598D" "" "Germline" "?" "" "0" "" "" "g.94021695G>T" "" "likely pathogenic" ""
"0000122941" "0" "50" "1" "94568627" "94568627" "subst" "0.000422314" "01695" "ABCA4_000207" "g.94568627C>T" "56, 121358, 0, 0.0004614" "{PMID:Burke 2010:20696155}" "" "G172S" "found no variant 2nd chromosome" "Germline" "-" "" "0" "" "" "g.94103071C>T" "" "VUS" ""
"0000122942" "0" "50" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "14, 121282, 0, 0.0001154" "{PMID:Burke 2010:20696155}" "" "R1108C" "found no variant 2nd chromosome" "Germline" "-" "" "0" "" "" "g.94042767G>A" "" "VUS" ""
"0000122943" "0" "50" "1" "94522239" "94522239" "subst" "2.03305E-5" "01695" "ABCA4_000736" "g.94522239A>T" "1, 119332, 0, 0.00000838" "{PMID:Burke 2010:20696155}" "" "V767D" "found no variant 2nd chromosome" "Germline" "-" "" "0" "" "" "g.94056683A>T" "" "VUS" ""
"0000122944" "0" "50" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "24, 119274, 0, 0.0002012" "{PMID:Burke 2010:20696155}" "" "P1380L" "found no variant 2nd chromosome" "Germline" "-" "" "0" "" "" "g.94031110G>A" "" "VUS" ""
"0000122945" "0" "90" "1" "94495083" "94495083" "subst" "0.000124542" "01695" "ABCA4_000542" "g.94495083G>A" "11, 77176, 0, 0.0001425" "{PMID:Chen 2011:21296825}" "" "Pro1486Leu" "" "Germline" "-" "" "0" "" "" "g.94029527G>A" "" "pathogenic" ""
"0000122946" "0" "70" "1" "94564415" "94564446" "delins" "0" "01695" "ABCA4_001004" "g.94564415_94564446delinsN[6]" "" "{PMID:Chen 2011:21296825}" "" "6bpins32bp del at base 672" "" "Germline" "?" "" "0" "" "" "" "" "likely pathogenic" ""
"0000122947" "0" "90" "1" "94495083" "94495083" "subst" "0.000124542" "01695" "ABCA4_000542" "g.94495083G>A" "11, 77176, 0, 0.0001425" "{PMID:Chen 2011:21296825}" "" "Pro1486Leu" "" "Germline" "-" "" "0" "" "" "g.94029527G>A" "" "pathogenic" ""
"0000122948" "0" "70" "1" "94564415" "94564446" "delins" "0" "01695" "ABCA4_001004" "g.94564415_94564446delinsN[6]" "" "{PMID:Chen 2011:21296825}" "" "6bpins32bp del at base 672" "" "Germline" "?" "" "0" "" "" "" "" "likely pathogenic" ""
"0000122949" "0" "50" "1" "94496571" "94496571" "subst" "4.06174E-6" "01695" "ABCA4_000111" "g.94496571G>A" "" "{PMID:Chen 2011:21296825}" "" "Glu1412Stop" "" "Germline" "-" "" "0" "" "" "g.94031015G>A" "" "VUS" ""
"0000122950" "0" "50" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Chen 2011:21296825}" "" "Gly863Ala" "" "Germline" "-" "rs76157638" "0" "" "" "g.94051698C>G" "" "VUS" ""
"0000122951" "0" "70" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Chen 2011:21296825}" "" "5461-10T>C" "" "Germline" "-" "" "0" "" "" "g.94011395A>G" "" "likely pathogenic" ""
"0000122952" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Chen 2011:21296825}" "" "Gly1961Glu" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000122953" "0" "70" "1" "94564451" "94564451" "subst" "0.000150413" "01695" "ABCA4_000378" "g.94564451T>G" "23, 121120, 0, 0.0001899" "{PMID:Chen 2011:21296825}" "" "Lys 223 Gln" "On its own not significantely found more often in published STGD compared to ExAC (p-value 0.73). However, together with other non-significant variants published related to STGD, they are significantly more often in STGD patients (p-value <0.01)." "Germline" "-" "" "0" "" "" "g.94098895T>G" "" "likely pathogenic" ""
"0000122954" "0" "70" "1" "94522236" "94522250" "del" "0" "01695" "ABCA4_000735" "g.94522236_94522250del" "" "{PMID:Chen 2011:21296825}" "" "C2291-15bp/5amino acid deletion (CSGVI)" "" "Germline" "?" "" "0" "" "" "g.94056680_94056694del" "" "likely pathogenic" ""
"0000122955" "0" "70" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "14, 120056, 0, 0.0001166" "{PMID:Chen 2011:21296825}" "" "Arg212Cys" "" "Germline" "-" "" "0" "" "" "g.94098928G>A" "" "likely pathogenic" ""
"0000122956" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Chen 2011:21296825}" "" "Gly863Ala; Thr959Ile" "" "Germline" "?" "rs76157638" "0" "" "" "g.94051698C>G" "" "likely pathogenic" ""
"0000122957" "0" "70" "1" "94546126" "94546126" "subst" "2.03383E-5" "01695" "ABCA4_000343" "g.94546126G>C" "5, 121366, 0, 0.0000412" "{PMID:Chen 2011:21296825}" "" "Ser336Cys" "" "Germline" "-" "" "0" "" "" "g.94080570G>C" "" "likely pathogenic" ""
"0000122958" "0" "70" "1" "94508441" "94508441" "subst" "0" "01695" "ABCA4_001005" "g.94508441T>R" "" "{PMID:Chen 2011:21296825}" "" "Arg1068Ser" "Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message." "Germline" "?" "" "0" "" "" "g.94042885T>R" "" "likely pathogenic" ""
"0000122959" "0" "30" "1" "94508322" "94508322" "subst" "1.62513E-5" "01695" "ABCA4_000128" "g.94508322C>T" "2, 121288, 0, 0.00001649" "{PMID:Chen 2011:21296825}" "" "Arg1108His" "" "Germline" "-" "" "0" "" "" "g.94042766C>T" "" "likely benign" ""
"0000122960" "0" "70" "1" "94496039" "94496039" "subst" "0.00157963" "01695" "ABCA4_000552" "g.94496039C>T" "173, 121380, 1, 0.001425" "{PMID:Chen 2011:21296825}" "" "Val1433lle" "On its own not significantely found more often in published STGD compared to ExAC (p-value 0.71). However, together with other non-significant variants published related to STGD, they are significantly more often in STGD patients (p-value <0.01)." "Germline" "?" "" "0" "" "" "g.94030483C>T" "" "likely pathogenic" ""
"0000122961" "0" "70" "1" "94510164" "94510164" "subst" "1.62441E-5" "01695" "ABCA4_000144" "g.94510164C>T" "2, 121386, 0, 0.00001648" "{PMID:Chen 2011:21296825}" "" "IVS20+5G>A" "" "Germline" "-" "" "0" "" "" "g.94044608C>T" "" "likely pathogenic" ""
"0000122962" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Chen 2011:21296825}" "" "Gly1961Glu" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000122963" "0" "50" "1" "94471055" "94471055" "subst" "0.00035346" "01695" "ABCA4_000029" "g.94471055C>T" "47, 121404, 1, 0.0003871" "{PMID:Chen 2011:21296825}" "" "Arg2030Gln" "" "Germline" "-" "" "0" "" "" "g.94005499C>T" "" "VUS" ""
"0000122964" "0" "70" "1" "94586550" "94586550" "subst" "1.21864E-5" "01695" "ABCA4_000037" "g.94586550G>A" "3, 121392, 0, 0.00002471" "{PMID:Zernant 2011:21911583}" "" "c.52C>T" "" "Germline" "-" "" "0" "" "" "g.94120994G>A" "" "likely pathogenic" ""
"0000122965" "0" "70" "1" "94466638" "94466638" "subst" "2.8465E-5" "01695" "ABCA4_000841" "g.94466638G>T" "6, 121126, 0, 0.00004954" "{PMID:Zernant 2011:21911583}" "" "c.6306C>A" "On its own not significantely found more often in published STGD compared to ExAC (p-value 0.39). However, together with other non-significant variants published related to STGD, they are significantly more often in STGD patients (p-value <0.01)." "Germline" "?" "" "0" "" "" "g.94001082G>T" "" "likely pathogenic" ""
"0000122966" "0" "90" "1" "94578618" "94578618" "subst" "0.000166918" "01695" "ABCA4_000252" "g.94578618C>T" "23, 120444, 0, 0.000191" "{PMID:Zernant 2011:21911583}" "" "c.71G>A" "" "Germline" "-" "" "0" "" "" "g.94113062C>T" "" "pathogenic" ""
"0000122967" "0" "70" "1" "94466391" "94466391" "subst" "0" "01695" "ABCA4_000813" "g.94466391C>G" "" "{PMID:Zernant 2011:21911583}" "" "c.6479+1G>C" "" "Germline" "?" "" "0" "" "" "g.94000835C>G" "" "likely pathogenic" ""
"0000122968" "0" "70" "1" "94577046" "94577049" "dup" "0" "01695" "ABCA4_000227" "g.94577046_94577049dup" "" "{PMID:Zernant 2011:21911583}" "" "c.250_251insCAAA" "" "Germline" "-" "" "0" "" "" "g.94111490_94111493dup" "" "likely pathogenic" ""
"0000122969" "0" "90" "1" "94574252" "94574252" "subst" "0" "01695" "ABCA4_000217" "g.94574252T>A" "" "{PMID:Zernant 2011:21911583}" "" "c.323A>T" "" "Germline" "?" "" "0" "" "" "g.94108696T>A" "" "pathogenic" ""
"0000122970" "0" "70" "1" "94577046" "94577049" "dup" "0" "01695" "ABCA4_000227" "g.94577046_94577049dup" "" "{PMID:Zernant 2011:21911583}" "" "c.250_251insCAAA" "" "Germline" "-" "" "0" "" "" "g.94111490_94111493dup" "" "likely pathogenic" ""
"0000122971" "0" "90" "1" "94528202" "94528202" "subst" "0" "01695" "ABCA4_000270" "g.94528202T>C" "" "{PMID:Zernant 2011:21911583}" "" "c.1868A>G" "" "Germline" "?" "" "0" "" "" "g.94062646T>C" "" "pathogenic" ""
"0000122972" "0" "70" "1" "94577136" "94577136" "subst" "0" "01695" "ABCA4_000116" "g.94577136C>T" "" "{PMID:Zernant 2011:21911583}" "" "c.161G>A" "" "Germline" "-" "" "0" "" "" "g.94111580C>T" "" "likely pathogenic" ""
"0000122973" "0" "90" "1" "94508440" "94508440" "subst" "0" "01695" "ABCA4_000647" "g.94508440T>C" "" "{PMID:Zernant 2011:21911583}" "" "c.3205A>G" "" "Germline" "?" "" "0" "" "" "g.94042884T>C" "" "pathogenic" ""
"0000122974" "0" "90" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "14, 120056, 0, 0.0001166" "{PMID:Zernant 2011:21911583}" "" "c.634C>T" "" "Germline" "-" "" "0" "" "" "g.94098928G>A" "" "pathogenic" ""
"0000122975" "0" "70" "1" "94488975" "94488975" "subst" "0" "01695" "ABCA4_000517" "g.94488975C>A" "" "{PMID:Zernant 2011:21911583}" "" "c.4635-1G>T" "" "Germline" "?" "" "0" "" "" "g.94023419C>A" "" "likely pathogenic" ""
"0000122976" "0" "70" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "14, 120056, 0, 0.0001166" "{PMID:Zernant 2011:21911583}" "" "c.634C>T" "" "Germline" "-" "" "0" "" "" "g.94098928G>A" "" "likely pathogenic" ""
"0000122977" "0" "70" "1" "94496010" "94496010" "subst" "1.62434E-5" "01695" "ABCA4_000549" "g.94496010G>T" "3, 121366, 0, 0.00002472" "{PMID:Zernant 2011:21911583}" "" "c.4326C>A" "" "Germline" "?" "" "0" "" "" "g.94030454G>T" "" "likely pathogenic" ""
"0000122978" "0" "70" "1" "94546096" "94546096" "subst" "4.06583E-6" "01695" "ABCA4_000337" "g.94546096T>G" "" "{PMID:Zernant 2011:21911583}" "" "c.1037A>C" "" "Germline" "-" "" "0" "" "" "g.94080540T>G" "" "likely pathogenic" ""
"0000122979" "0" "70" "1" "94506937" "94506937" "subst" "0" "01695" "ABCA4_000627" "g.94506937G>A" "" "{PMID:Zernant 2011:21911583}" "" "c.3350C>T" "" "Germline" "?" "" "0" "" "" "g.94041381G>A" "" "likely pathogenic" ""
"0000122980" "0" "90" "1" "94544895" "94544895" "subst" "1.62455E-5" "01695" "ABCA4_000329" "g.94544895G>A" "3, 121410, 0, 0.00002471" "{PMID:Zernant 2011:21911583}, {PMID:Duncker 2015:26551331}" "" "c.1222C>T" "" "Germline" "-" "" "0" "" "" "g.94079339G>A" "" "pathogenic" ""
"0000122981" "0" "90" "1" "94473263" "94473263" "del" "0" "01695" "ABCA4_000388" "g.94473263del" "" "{PMID:Zernant 2011:21911583}, {PMID:Duncker 2015:26551331}" "" "c.5932delA" "" "Germline" "yes" "" "0" "" "" "g.94007707del" "" "pathogenic" ""
"0000122982" "0" "70" "1" "94528819" "94528819" "subst" "2.03128E-5" "01695" "ABCA4_000078" "g.94528819G>A" "2, 121412, 0, 0.00001647" "{PMID:Zernant 2011:21911583}" "" "c.1609C>T" "" "Germline" "-" "" "0" "" "" "g.94063263G>A" "" "likely pathogenic" ""
"0000122983" "0" "70" "1" "94522296" "94522296" "subst" "0" "01695" "ABCA4_000743" "g.94522296C>T" "" "{PMID:Zernant 2011:21911583}" "" "c.2243G>A" "" "Germline" "?" "" "0" "" "" "g.94056740C>T" "" "likely pathogenic" ""
"0000122984" "0" "90" "1" "94528265" "94528265" "subst" "2.44212E-5" "01695" "ABCA4_000284" "g.94528265C>T" "2, 119074, 0, 0.0000168" "{PMID:Zernant 2011:21911583}" "" "c.1805G>A" "" "Germline" "-" "" "0" "" "" "g.94062709C>T" "" "pathogenic" ""
"0000122985" "0" "70" "1" "94466621" "94466627" "del" "0" "01695" "ABCA4_000837" "g.94466621_94466627del" "" "{PMID:Zernant 2011:21911583}" "" "c.6317_6323del" "" "Germline" "?" "" "0" "" "" "g.94001065_94001071del" "" "likely pathogenic" ""
"0000122986" "0" "70" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "6, 119038, 0, 0.0000504" "{PMID:Zernant 2011:21911583}, {PMID:Burke 2014:24677105}" "" "c.1804C>T" "" "Germline" "-" "" "0" "" "" "g.94062710G>A" "" "likely pathogenic" ""
"0000122987" "0" "70" "1" "94476424" "94476424" "subst" "2.43694E-5" "01695" "ABCA4_000418" "g.94476424C>T" "" "{PMID:Zernant 2011:21911583}, {PMID:Burke 2014:24677105}" "" "c.5646G>A" "" "Germline" "?" "" "0" "" "" "g.94010868C>T" "" "likely pathogenic" ""
"0000122988" "0" "90" "1" "94522239" "94522239" "subst" "2.03305E-5" "01695" "ABCA4_000736" "g.94522239A>T" "1, 119332, 0, 0.00000838" "{PMID:Zernant 2011:21911583}" "" "c.2300T>A" "" "Germline" "-" "" "0" "" "" "g.94056683A>T" "" "pathogenic" ""
"0000122989" "0" "70" "1" "94564383" "94564383" "subst" "0" "01695" "ABCA4_000371" "g.94564383A>C" "" "{PMID:Zernant 2011:21911583}" "" "c.735T>G" "" "Germline" "?" "" "0" "" "" "g.94098827A>C" "" "likely pathogenic" ""
"0000122990" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Zernant 2011:21911583}" "" "c.2588G>C" "" "Germline" "-" "rs76157638" "0" "" "" "g.94051698C>G" "" "likely pathogenic" ""
"0000122991" "0" "90" "1" "94485157" "94485157" "subst" "0" "01695" "ABCA4_000466" "g.94485157G>T" "" "{PMID:Zernant 2011:21911583}" "" "c.5177C>A" "" "Germline" "?" "" "0" "" "" "g.94019601G>T" "" "pathogenic" ""
"0000122992" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Zernant 2011:21911583}" "" "c.2588G>C" "" "Germline" "-" "rs76157638" "0" "" "" "g.94051698C>G" "" "pathogenic" ""
"0000122993" "0" "90" "1" "94574257" "94574257" "subst" "0" "01695" "ABCA4_000218" "g.94574257A>C" "" "{PMID:Zernant 2011:21911583}" "" "c.318T>G" "" "Germline" "?" "" "0" "" "" "g.94108701A>C" "" "pathogenic" ""
"0000122994" "21" "70" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "21, 121302, 0, 0.0001731" "{PMID:Zernant 2011:21911583}" "" "c.2894A>G" "" "Germline" "-" "" "0" "" "" "g.94046943T>C" "" "likely pathogenic" ""
"0000122995" "11" "70" "1" "94502859" "94502859" "subst" "8.13206E-6" "01695" "ABCA4_000602" "g.94502859C>G" "2, 120952, 0, 0.00001654" "{PMID:Zernant 2011:21911583}" "" "c.3655G>C" "" "Germline" "yes" "" "0" "" "" "g.94037303C>G" "" "likely pathogenic" ""
"0000122996" "0" "70" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "21, 121302, 0, 0.0001731" "{PMID:Zernant 2011:21911583}" "" "c.2894A>G" "" "Germline" "-" "" "0" "" "" "g.94046943T>C" "" "likely pathogenic" ""
"0000122997" "0" "70" "1" "94485196" "94485196" "subst" "8.239E-6" "01695" "ABCA4_000469" "g.94485196T>C" "2, 91346, 0, 0.00002189" "{PMID:Zernant 2011:21911583}" "" "c.5138A>G" "" "Germline" "?" "" "0" "" "" "g.94019640T>C" "" "likely pathogenic" ""
"0000122998" "0" "70" "1" "94512602" "94512602" "subst" "0.000369717" "01695" "ABCA4_000052" "g.94512602C>T" "59, 120896, 0, 0.000488" "{PMID:Zernant 2011:21911583}" "" "c.2791G>A" "" "Germline" "-" "" "0" "" "" "g.94047046C>T" "" "likely pathogenic" ""
"0000122999" "0" "70" "1" "94577112" "94577112" "subst" "4.06164E-6" "01695" "ABCA4_000051" "g.94577112G>A" "" "{PMID:Zernant 2011:21911583}" "" "c.184C>T" "" "Germline" "?" "" "0" "" "" "g.94111556G>A" "" "likely pathogenic" ""
"0000123000" "0" "70" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "14, 121282, 0, 0.0001154" "{PMID:Zernant 2011:21911583}" "" "c.3322C>T" "" "Germline" "-" "" "0" "" "" "g.94042767G>A" "" "likely pathogenic" ""
"0000123001" "0" "70" "1" "94544249" "94544249" "subst" "8.12196E-6" "01695" "ABCA4_000323" "g.94544249A>G" "" "{PMID:Zernant 2011:21911583}" "" "c.1253T>C" "" "Germline" "?" "" "0" "" "" "g.94078693A>G" "" "likely pathogenic" ""
"0000123002" "11" "50" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "14, 121282, 0, 0.0001154" "{PMID:Zernant 2011:21911583}" "" "c.3322C>T" "" "Germline" "-" "" "0" "" "" "g.94042767G>A" "" "VUS" ""
"0000123003" "21" "70" "1" "94506761" "94506761" "del" "0" "01695" "ABCA4_000613" "g.94506761del" "" "{PMID:Zernant 2011:21911583}" "" "c.3522+5delG" "" "Germline" "yes" "" "0" "" "" "g.94041205del" "" "likely pathogenic" ""
"0000123004" "0" "90" "1" "94506901" "94506901" "subst" "4.06138E-6" "01695" "ABCA4_000622" "g.94506901C>T" "" "{PMID:Zernant 2011:21911583}" "" "c.3386G>A" "" "Germline" "-" "" "0" "" "" "g.94041345C>T" "" "pathogenic" ""
"0000123005" "0" "70" "1" "94495983" "94495983" "subst" "8.12348E-6" "01695" "ABCA4_000547" "g.94495983C>T" "1, 121268, 0, 0.000008246" "{PMID:Zernant 2011:21911583}" "" "c.4352+1G>A" "" "Germline" "?" "" "0" "" "" "g.94030427C>T" "" "likely pathogenic" ""
"0000123006" "0" "70" "1" "94502343" "94502343" "dup" "0" "01695" "ABCA4_000592" "g.94502343dup" "" "{PMID:Zernant 2011:21911583}" "" "c.3819_3820insT" "" "Germline" "-" "" "0" "" "" "g.94036787dup" "" "likely pathogenic" ""
"0000123007" "0" "90" "1" "94508366" "94508366" "subst" "0" "01695" "ABCA4_000638" "g.94508366G>T" "" "{PMID:Zernant 2011:21911583}" "" "c.3279C>A" "" "Germline" "?" "" "0" "" "" "g.94042810G>T" "" "pathogenic" ""
"0000123008" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "24, 119274, 0, 0.0002012" "{PMID:Zernant 2011:21911583}" "" "c.4139C>T" "" "Germline" "-" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic" ""
"0000123009" "0" "70" "1" "94520853" "94520853" "subst" "8.14783E-6" "01695" "ABCA4_000729" "g.94520853C>T" "" "{PMID:Zernant 2011:21911583}" "" "c.2401G>A" "" "Germline" "?" "" "0" "" "" "g.94055297C>T" "" "likely pathogenic" ""
"0000123010" "0" "90" "1" "94496008" "94496008" "subst" "2.03056E-5" "01695" "ABCA4_000148" "g.94496008C>T" "3, 121360, 0, 0.00002472" "{PMID:Zernant 2011:21911583}" "" "c.4328G>A" "" "Germline" "-" "" "0" "" "" "g.94030452C>T" "" "pathogenic" ""
"0000123011" "0" "70" "1" "94488941" "94488941" "subst" "4.09836E-6" "01695" "ABCA4_000127" "g.94488941C>T" "1, 99920, 0, 0.00001001" "{PMID:Zernant 2011:21911583}" "" "c.4667+1G>A" "" "Germline" "?" "" "0" "" "" "g.94023385C>T" "" "likely pathogenic" ""
"0000123012" "0" "90" "1" "94495078" "94495078" "subst" "8.37044E-6" "01695" "ABCA4_000042" "g.94495078A>G" "1, 70400, 0, 0.0000142" "{PMID:Zernant 2011:21911583}" "" "c.4462T>C" "" "Germline" "-" "" "0" "" "" "g.94029522A>G" "" "pathogenic" ""
"0000123013" "0" "70" "1" "94546248" "94546248" "del" "2.03666E-5" "01695" "ABCA4_000352" "g.94546248del" "" "{PMID:Zernant 2011:21911583}" "" "c.885delC" "" "Germline" "?" "" "0" "" "" "g.94080692del" "" "likely pathogenic" ""
"0000123014" "0" "90" "1" "94480146" "94480146" "subst" "2.84273E-5" "01695" "ABCA4_000122" "g.94480146T>C" "2, 121410, 0, 0.00001647" "{PMID:Zernant 2011:21911583}" "" "c.5413A>G" "" "Germline" "-" "" "0" "" "" "g.94014590T>C" "" "pathogenic" ""
"0000123015" "0" "70" "1" "94574223" "94574224" "del" "0" "01695" "ABCA4_000215" "g.94574223_94574224del" "" "{PMID:Zernant 2011:21911583}" "" "c.351_352del" "" "Germline" "?" "" "0" "" "" "g.94108667_94108668del" "" "likely pathogenic" ""
"0000123016" "1" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Zernant 2011:21911583}, {PMID:Lee 2017:28327576}, {DOI:Lee 2017:10.1038/ejhg.2017.13}" "" "c.5882G>A" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "pathogenic" ""
"0000123017" "2" "70" "1" "94487443" "94487443" "del" "0" "01695" "ABCA4_000503" "g.94487443del" "" "{PMID:Zernant 2011:21911583}, {PMID:Lee 2017:28327576}, {DOI:Lee 2017:10.1038/ejhg.2017.13}" "" "c.4734delG" "" "Germline" "?" "" "0" "" "" "g.94021887del" "" "likely pathogenic" ""
"0000123018" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Zernant 2011:21911583}" "" "c.5882G>A" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "pathogenic" ""
"0000123019" "0" "70" "1" "94568577" "94568577" "del" "0" "01695" "ABCA4_000201" "g.94568577del" "" "{PMID:Zernant 2011:21911583}" "" "c.564delA" "" "Germline" "?" "" "0" "" "" "g.94103021del" "" "likely pathogenic" ""
"0000123020" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Zernant 2011:21911583}" "" "c.5882G>A" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "pathogenic" ""
"0000123021" "0" "70" "1" "94546248" "94546248" "del" "2.03666E-5" "01695" "ABCA4_000352" "g.94546248del" "" "{PMID:Zernant 2011:21911583}" "" "c.885delC" "" "Germline" "?" "" "0" "" "" "g.94080692del" "" "likely pathogenic" ""
"0000123022" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Zernant 2011:21911583}" "" "c.5882G>A" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000123023" "0" "70" "1" "94526289" "94526289" "subst" "0.000417202" "01695" "ABCA4_000767" "g.94526289A>C" "67, 103634, 0, 0.0006465" "{PMID:Zernant 2011:21911583}" "" "c.1964T>G" "" "Germline" "?" "" "0" "" "" "g.94060733A>C" "" "likely pathogenic" ""
"0000123024" "1" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Zernant 2011:21911583}, {PMID:Lee 2017:28327576}, {DOI:Lee 2017:10.1038/ejhg.2017.13}" "" "c.5882G>A" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000123025" "2" "70" "1" "94496588" "94496588" "subst" "0" "01695" "ABCA4_000567" "g.94496588T>C" "" "{PMID:Zernant 2011:21911583}, {PMID:Lee 2017:28327576}, {DOI:Lee 2017:10.1038/ejhg.2017.13}" "" "c.4217A>G" "" "Germline" "?" "" "0" "" "" "g.94031032T>C" "" "likely pathogenic" ""
"0000123026" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Zernant 2011:21911583}, {PMID:Duncker 2015:26024099}" "" "c.5882G>A" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "pathogenic" ""
"0000123027" "0" "70" "1" "94522156" "94522156" "subst" "0" "01695" "ABCA4_000732" "g.94522156C>T" "" "{PMID:Zernant 2011:21911583}, {PMID:Duncker 2015:26024099}" "" "c.2382+1G>A" "" "Germline" "?" "" "0" "" "" "g.94056600C>T" "" "likely pathogenic" ""
"0000123028" "1" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Zernant 2011:21911583}, {PMID:Lee 2017:28327576}, {DOI:Lee 2017:10.1038/ejhg.2017.13}" "" "c.5882G>A" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "pathogenic" ""
"0000123029" "2" "70" "1" "94578527" "94578527" "subst" "0" "01695" "ABCA4_000243" "g.94578527A>G" "" "{PMID:Zernant 2011:21911583}, {PMID:Lee 2017:28327576}, {DOI:Lee 2017:10.1038/ejhg.2017.13}" "" "c.160+2T>C" "" "Germline" "?" "" "0" "" "" "g.94112971A>G" "" "likely pathogenic" ""
"0000123030" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Zernant 2011:21911583}" "" "c.5882G>A" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "pathogenic" ""
"0000123031" "0" "70" "1" "94473855" "94473855" "subst" "0" "01695" "ABCA4_000405" "g.94473855T>G" "" "{PMID:Zernant 2011:21911583}" "" "c.5836-2A>C" "" "Germline" "?" "" "0" "" "" "g.94008299T>G" "" "likely pathogenic" ""
"0000123032" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Zernant 2011:21911583}" "" "c.5882G>A" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "pathogenic" ""
"0000123033" "0" "70" "1" "94466485" "94466485" "subst" "0" "01695" "ABCA4_000830" "g.94466485C>A" "" "{PMID:Zernant 2011:21911583}" "" "c.6387-1G>T" "" "Germline" "?" "" "0" "" "" "g.94000929C>A" "" "likely pathogenic" ""
"0000123034" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Zernant 2011:21911583}" "" "c.5882G>A" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "pathogenic" ""
"0000123035" "0" "70" "1" "94466391" "94466391" "subst" "0" "01695" "ABCA4_000814" "g.94466391C>T" "" "{PMID:Zernant 2011:21911583}" "" "c.6479+1G>A" "" "Germline" "?" "" "0" "" "" "g.94000835C>T" "" "likely pathogenic" ""
"0000123036" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Zernant 2011:21911583}" "" "c.5882G>A" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "pathogenic" ""
"0000123037" "0" "70" "1" "94544264" "94544264" "subst" "0" "01695" "ABCA4_000325" "g.94544264T>C" "" "{PMID:Zernant 2011:21911583}" "" "c.1240-2A>G" "" "Germline" "?" "" "0" "" "" "g.94078708T>C" "" "likely pathogenic" ""
"0000123038" "1" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Zernant 2011:21911583}, {PMID:Lee 2017:28327576}, {DOI:Lee 2017:10.1038/ejhg.2017.13}" "" "c.5882G>A" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "pathogenic" ""
"0000123039" "1" "70" "1" "94466426" "94466426" "subst" "1.62433E-5" "01695" "ABCA4_000124" "g.94466426G>A" "2, 121400, 0, 0.00001647" "{PMID:Zernant 2011:21911583}, {PMID:Lee 2017:28327576}, {DOI:Lee 2017:10.1038/ejhg.2017.13}" "" "c.6445C>T" "" "Germline" "?" "" "0" "" "" "g.94000870G>A" "" "likely pathogenic" ""
"0000123040" "1" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Zernant 2011:21911583}, {PMID:Lee 2017:28327576}, {DOI:Lee 2017:10.1038/ejhg.2017.13}" "" "c.5882G>A" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "pathogenic" ""
"0000123041" "1" "70" "1" "94466426" "94466426" "subst" "1.62433E-5" "01695" "ABCA4_000124" "g.94466426G>A" "2, 121400, 0, 0.00001647" "{PMID:Zernant 2011:21911583}, {PMID:Lee 2017:28327576}, {DOI:Lee 2017:10.1038/ejhg.2017.13}" "" "c.6445C>T" "" "Germline" "?" "" "0" "" "" "g.94000870G>A" "" "likely pathogenic" ""
"0000123042" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "26, 121404, 0, 0.0002142" "{PMID:Zernant 2011:21911583}" "" "c.6079C>T" "" "Germline" "-" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic" ""
"0000123043" "0" "70" "1" "94578598" "94578598" "subst" "0" "01695" "ABCA4_000251" "g.94578598A>G" "" "{PMID:Zernant 2011:21911583}" "" "c.91T>C" "" "Germline" "?" "" "0" "" "" "g.94113042A>G" "" "likely pathogenic" ""
"0000123044" "0" "90" "1" "94471055" "94471055" "subst" "0.00035346" "01695" "ABCA4_000029" "g.94471055C>T" "47, 121404, 1, 0.0003871" "{PMID:Zernant 2011:21911583}" "" "c.6089G>A" "" "Germline" "-" "" "0" "" "" "g.94005499C>T" "" "pathogenic" ""
"0000123045" "0" "70" "1" "94488970" "94488970" "subst" "0" "01695" "ABCA4_000516" "g.94488970T>A" "" "{PMID:Zernant 2011:21911583}" "" "c.4639A>T" "" "Germline" "?" "" "0" "" "" "g.94023414T>A" "" "likely pathogenic" ""
"0000123046" "0" "70" "1" "94471055" "94471055" "subst" "0.00035346" "01695" "ABCA4_000029" "g.94471055C>T" "47, 121404, 1, 0.0003871" "{PMID:Zernant 2011:21911583}" "" "c.6089G>A" "" "Germline" "-" "" "0" "" "" "g.94005499C>T" "" "likely pathogenic" ""
"0000123047" "0" "70" "1" "94526276" "94526276" "subst" "0" "01695" "ABCA4_000765" "g.94526276C>T" "" "{PMID:Zernant 2011:21911583}" "" "c.1977G>A" "" "Germline" "?" "" "0" "" "" "g.94060720C>T" "" "likely pathogenic" ""
"0000123048" "0" "70" "1" "94471056" "94471056" "subst" "2.84398E-5" "01695" "ABCA4_000050" "g.94471056G>A" "3, 121402, 0, 0.00002471" "{PMID:Zernant 2011:21911583}" "" "c.6088C>T" "" "Germline" "-" "" "0" "" "" "g.94005500G>A" "" "likely pathogenic" ""
"0000123049" "0" "90" "1" "94543426" "94543426" "del" "0" "01695" "ABCA4_000314" "g.94543426del" "" "{PMID:Zernant 2011:21911583}" "" "c.1374delA" "" "Germline" "?" "" "0" "" "" "g.94077870del" "" "pathogenic" ""
"0000123050" "0" "90" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "227, 121250, 3, 0.001872" "{PMID:Zernant 2011:21911583}" "" "c.6320G>A" "" "Germline" "-" "" "0" "" "" "g.94001068C>T" "" "pathogenic" ""
"0000123051" "0" "30" "1" "94505684" "94505684" "subst" "1.73969E-5" "01695" "ABCA4_000102" "g.94505684C>T" "4, 73528, 0, 0.0000544" "{PMID:Zernant 2011:21911583}" "" "c.3523-1G>A" "" "Germline" "?" "" "0" "" "" "g.94040128C>T" "" "likely benign" ""
"0000123052" "21" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Zernant 2011:21911583}" "" "c.1622T>C/3113C>T" "" "Germline" "-" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000123053" "21" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Zernant 2011:21911583}" "" "c.1622T>C/3113C>T" "" "Germline" "-" "" "0" "" "" "g.94043413G>A" "" "pathogenic" ""
"0000123054" "11" "70" "1" "94505663" "94505663" "del" "0" "01695" "ABCA4_000608" "g.94505663del" "" "{PMID:Zernant 2011:21911583}" "" "c.3543delT" "" "Germline" "yes" "" "0" "" "" "g.94040107del" "" "likely pathogenic" ""
"0000123055" "21" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Zernant 2011:21911583}" "" "c.1622T>C/3113C>T" "" "Germline" "-" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000123056" "21" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Zernant 2011:21911583}" "" "c.1622T>C/3113C>T" "" "Germline" "-" "" "0" "" "" "g.94043413G>A" "" "pathogenic" ""
"0000123057" "11" "70" "1" "94505663" "94505663" "del" "0" "01695" "ABCA4_000608" "g.94505663del" "" "{PMID:Zernant 2011:21911583}" "" "c.3543delT" "" "Germline" "yes" "" "0" "" "" "g.94040107del" "" "likely pathogenic" ""
"0000123058" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Zernant 2011:21911583}" "" "c.1622T>C/3113C>T" "" "Germline" "-" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000123059" "1" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Zernant 2011:21911583}" "" "c.1622T>C/3113C>T" "" "Germline" "-" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic" ""
"0000123060" "0" "70" "1" "94496628" "94496628" "subst" "0" "01695" "ABCA4_000573" "g.94496628C>T" "" "{PMID:Zernant 2011:21911583}" "" "c.4177G>A" "" "Germline" "?" "" "0" "" "" "g.94031072C>T" "" "likely pathogenic" ""
"0000123061" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Zernant 2011:21911583}" "" "c.5461-10T>C" "" "Germline" "-" "" "0" "" "" "g.94011395A>G" "" "pathogenic" ""
"0000123062" "0" "50" "1" "94578567" "94578567" "subst" "4.06204E-6" "01695" "ABCA4_000247" "g.94578567C>T" "" "{PMID:Zernant 2011:21911583}" "" "c.121G>A" "" "Germline" "?" "" "0" "" "" "g.94113011C>T" "" "VUS" ""
"0000123063" "0" "50" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "42, 120772, 0, 0.0003478" "{PMID:Zernant 2011:21911583}" "" "c.5714+5G>A" "" "Germline" "-" "" "0" "" "" "g.94010795C>T" "" "VUS" ""
"0000123064" "0" "90" "1" "94506761" "94506761" "del" "0" "01695" "ABCA4_000613" "g.94506761del" "" "{PMID:Zernant 2011:21911583}" "" "c.3522+5delG" "" "Germline" "?" "" "0" "" "" "g.94041205del" "" "pathogenic" ""
"0000123065" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "42, 120772, 0, 0.0003478" "{PMID:Zernant 2011:21911583}" "" "c.5714+5G>A" "" "Germline" "-" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic" ""
"0000123066" "0" "90" "1" "94548996" "94548996" "subst" "0" "01695" "ABCA4_000361" "g.94548996A>C" "" "{PMID:Zernant 2011:21911583}" "" "c.770T>G" "" "Germline" "?" "" "0" "" "" "g.94083440A>C" "" "pathogenic" ""
"0000123067" "0" "50" "1" "94586550" "94586550" "subst" "1.21864E-5" "01695" "ABCA4_000037" "g.94586550G>A" "3, 121392, 0, 0.00002471" "{PMID:Zernant 2011:21911583}" "" "c.52C>T" "" "Germline" "-" "" "0" "" "" "g.94120994G>A" "" "VUS" ""
"0000123068" "0" "50" "1" "94577046" "94577049" "dup" "0" "01695" "ABCA4_000227" "g.94577046_94577049dup" "" "{PMID:Zernant 2011:21911583}" "" "c.250_251insCAAA" "" "Germline" "-" "" "0" "" "" "g.94111490_94111493dup" "" "VUS" ""
"0000123069" "0" "90" "1" "94577135" "94577135" "subst" "2.43718E-5" "01695" "ABCA4_000240" "g.94577135C>T" "2, 121210, 0, 0.0000165" "{PMID:Zernant 2011:21911583}" "" "c.161G>A" "" "Germline" "-" "" "0" "" "" "g.94111579C>T" "" "pathogenic" ""
"0000123070" "0" "90" "1" "94577135" "94577135" "subst" "2.43718E-5" "01695" "ABCA4_000240" "g.94577135C>T" "2, 121210, 0, 0.0000165" "{PMID:Zernant 2011:21911583}" "" "c.161G>A" "" "Germline" "-" "" "0" "" "" "g.94111579C>T" "" "pathogenic" ""
"0000123071" "0" "90" "1" "94577135" "94577135" "subst" "2.43718E-5" "01695" "ABCA4_000240" "g.94577135C>T" "2, 121210, 0, 0.0000165" "{PMID:Zernant 2011:21911583}" "" "c.161G>A" "" "Germline" "-" "" "0" "" "" "g.94111579C>T" "" "pathogenic" ""
"0000123072" "0" "50" "1" "94568675" "94568675" "subst" "0.00146249" "01695" "ABCA4_000210" "g.94568675T>C" "159, 120956, 0, 0.001315" "{PMID:Zernant 2011:21911583}" "" "c.466A>G" "On its own not significantely found more often in published STGD compared to ExAC (p-value 0.50). However, together with other non-significant variants published related to STGD, they are significantly more often in STGD patients (p-value <0.01)." "Germline" "-" "" "0" "" "" "g.94103119T>C" "" "VUS" ""
"0000123073" "0" "50" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "14, 120056, 0, 0.0001166" "{PMID:Zernant 2011:21911583}" "" "c.634C>T" "" "Germline" "-" "" "0" "" "" "g.94098928G>A" "" "VUS" ""
"0000123074" "0" "50" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "13, 121216, 0, 0.0001072" "{PMID:Zernant 2011:21911583}" "" "c.768G>T" "" "Germline" "-" "" "0" "" "" "g.94098794C>A" "" "VUS" ""
"0000123075" "0" "50" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Zernant 2011:21911583}" "" "c.2588G>C" "" "Germline" "-" "rs76157638" "0" "" "" "g.94051698C>G" "" "VUS" ""
"0000123076" "0" "50" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Zernant 2011:21911583}" "" "c.2588G>C" "" "Germline" "-" "rs76157638" "0" "" "" "g.94051698C>G" "" "VUS" ""
"0000123077" "0" "50" "1" "94514477" "94514477" "subst" "0.00118992" "01695" "ABCA4_000700" "g.94514477G>A" "138, 121252, 1, 0.001138" "{PMID:Zernant 2011:21911583}" "" "c.2690C>T" "" "Germline" "-" "" "0" "" "" "g.94048921G>A" "" "VUS" ""
"0000123078" "0" "50" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "21, 121302, 0, 0.0001731" "{PMID:Zernant 2011:21911583}" "" "c.2894A>G" "" "Germline" "-" "" "0" "" "" "g.94046943T>C" "" "VUS" ""
"0000123079" "0" "50" "1" "94512574" "94512574" "subst" "0.00025589" "01695" "ABCA4_000694" "g.94512574G>C" "29, 121142, 0, 0.0002394" "{PMID:Zernant 2011:21911583}" "" "c.2819C>G" "On its own not significantely found more often in published STGD compared to ExAC (p-value 0.98). However, together with other non-significant variants published related to STGD, they are significantly more often in STGD patients (p-value <0.01)." "Germline" "-" "" "0" "" "" "g.94047018G>C" "" "VUS" ""
"0000123080" "0" "50" "1" "94510248" "94510248" "subst" "0.000544123" "01695" "ABCA4_000107" "g.94510248C>G" "87, 121410, 0, 0.0007166" "{PMID:Zernant 2011:21911583}" "" "c.2971G>C" "" "Germline" "-" "" "0" "" "" "g.94044692C>G" "" "VUS" ""
"0000123081" "0" "50" "1" "94510253" "94510253" "subst" "0.000247694" "01695" "ABCA4_000108" "g.94510253A>G" "36, 121412, 0, 0.0002965" "{PMID:Zernant 2011:21911583}" "" "c.2966T>C" "" "Germline" "-" "" "0" "" "" "g.94044697A>G" "" "VUS" ""
"0000123082" "0" "50" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "173, 121304, 0, 0.001426" "{PMID:Zernant 2011:21911583}" "" "c.3113C>T" "" "Germline" "-" "" "0" "" "" "g.94043413G>A" "" "VUS" ""
"0000123083" "0" "50" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "14, 121282, 0, 0.0001154" "{PMID:Zernant 2011:21911583}" "" "c.3322C>T" "" "Germline" "-" "" "0" "" "" "g.94042767G>A" "" "VUS" ""
"0000123084" "0" "50" "1" "94505604" "94505604" "subst" "0.00645586" "01695" "ABCA4_000092" "g.94505604A>C" "879, 64452, 44, 0.01364" "{PMID:Zernant 2011:21911583}" "" "c.3602T>G" "" "Germline" "-" "" "0" "" "" "g.94040048A>C" "" "VUS" ""
"0000123085" "0" "50" "1" "94505604" "94505604" "subst" "0.00645586" "01695" "ABCA4_000092" "g.94505604A>C" "879, 64452, 44, 0.01364" "{PMID:Zernant 2011:21911583}" "" "c.3602T>G" "" "Germline" "-" "" "0" "" "" "g.94040048A>C" "" "VUS" ""
"0000123086" "0" "50" "1" "94497564" "94497564" "subst" "1.64383E-5" "01695" "ABCA4_000091" "g.94497564G>A" "4, 118564, 0, 0.00003374" "{PMID:Zernant 2011:21911583}" "" "c.3898C>T" "" "Germline" "-" "" "0" "" "" "g.94032008G>A" "" "VUS" ""
"0000123087" "0" "50" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "24, 119274, 0, 0.0002012" "{PMID:Zernant 2011:21911583}" "" "c.4139C>T" "" "Germline" "-" "" "0" "" "" "g.94031110G>A" "" "VUS" ""
"0000123088" "0" "50" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "24, 119274, 0, 0.0002012" "{PMID:Zernant 2011:21911583}" "" "c.4139C>T" "" "Germline" "-" "" "0" "" "" "g.94031110G>A" "" "VUS" ""
"0000123089" "0" "50" "1" "94495177" "94495177" "subst" "1.22342E-5" "01695" "ABCA4_000023" "g.94495177A>G" "2, 109474, 0, 0.00001827" "{PMID:Zernant 2011:21911583}" "" "c.4363T>C" "" "Germline" "-" "" "0" "" "" "g.94029621A>G" "" "VUS" ""
"0000123090" "0" "50" "1" "94495009" "94495009" "dup" "0" "01695" "ABCA4_000087" "g.94495009dup" "" "{PMID:Zernant 2011:21911583}" "" "c.4537_4538insC" "" "Germline" "-" "" "0" "" "" "g.94029453dup" "" "VUS" ""
"0000123091" "0" "50" "1" "94490567" "94490567" "subst" "5.68528E-5" "01695" "ABCA4_000026" "g.94490567G>A" "4, 121406, 0, 0.00003295" "{PMID:Zernant 2011:21911583}" "" "c.4577C>T" "" "Germline" "-" "" "0" "" "" "g.94025011G>A" "" "VUS" ""
"0000123092" "0" "50" "1" "94486895" "94486895" "subst" "3.24923E-5" "01695" "ABCA4_000484" "g.94486895C>T" "7, 121398, 0, 0.00005766" "{PMID:Zernant 2011:21911583}" "" "c.4919G>A" "" "Germline" "-" "" "0" "" "" "g.94021339C>T" "" "VUS" ""
"0000123093" "0" "50" "1" "94486896" "94486896" "subst" "3.65562E-5" "01695" "ABCA4_000085" "g.94486896G>A" "1, 121394, 0, 0.000008238" "{PMID:Zernant 2011:21911583}" "" "c.4918C>T" "" "Germline" "-" "" "0" "" "" "g.94021340G>A" "" "VUS" ""
"0000123094" "0" "50" "1" "94476377" "94476377" "subst" "0.00160473" "01695" "ABCA4_000411" "g.94476377C>T" "216, 121058, 1, 0.001784" "{PMID:Zernant 2011:21911583}" "" "c.5693G>A" "On its own not significantely found more often in published STGD compared to ExAC (p-value 0.39). However, together with other non-significant variants published related to STGD, they are significantly more often in STGD patients (p-value <0.01)." "Germline" "-" "" "0" "" "" "g.94010821C>T" "" "VUS" ""
"0000123095" "0" "50" "1" "94476377" "94476377" "subst" "0.00160473" "01695" "ABCA4_000411" "g.94476377C>T" "216, 121058, 1, 0.001784" "{PMID:Zernant 2011:21911583}" "" "c.5693G>A" "On its own not significantely found more often in published STGD compared to ExAC (p-value 0.39). However, together with other non-significant variants published related to STGD, they are significantly more often in STGD patients (p-value <0.01)." "Germline" "-" "" "0" "" "" "g.94010821C>T" "" "VUS" ""
"0000123096" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Zernant 2011:21911583}" "" "c.5882G>A" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000123097" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Zernant 2011:21911583}" "" "c.5882G>A" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000123098" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Zernant 2011:21911583}" "" "c.5882G>A" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000123099" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Zernant 2011:21911583}" "" "c.5882G>A" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000123100" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Zernant 2011:21911583}" "" "c.5882G>A" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000123101" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Zernant 2011:21911583}" "" "c.5882G>A" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000123102" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Zernant 2011:21911583}" "" "c.5882G>A" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000123103" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Zernant 2011:21911583}" "" "c.5882G>A" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "pathogenic" ""
"0000123104" "0" "90" "1" "94577046" "94577049" "dup" "0" "01695" "ABCA4_000227" "g.94577046_94577049dup" "" "{PMID:Zernant 2011:21911583}" "" "c.250_251insCAAA" "" "Germline" "-" "" "0" "" "" "g.94111490_94111493dup" "" "pathogenic" ""
"0000123105" "0" "50" "1" "94473808" "94473808" "subst" "8.52861E-5" "01695" "ABCA4_000196" "g.94473808C>T" "" "{PMID:Zernant 2011:21911583}" "" "c.5881G>A" "" "Germline" "-" "" "0" "" "" "g.94008252C>T" "" "VUS" ""
"0000123106" "0" "50" "1" "94473281" "94473281" "subst" "0" "01695" "ABCA4_000393" "g.94473281C>T" "" "{PMID:Zernant 2011:21911583}" "" "c.5914G>A" "" "Germline" "-" "" "0" "" "" "g.94007725C>T" "" "VUS" ""
"0000123107" "0" "50" "1" "94471056" "94471056" "subst" "2.84398E-5" "01695" "ABCA4_000050" "g.94471056G>A" "3, 121402, 0, 0.00002471" "{PMID:Zernant 2011:21911583}" "" "c.6088C>T" "" "Germline" "-" "" "0" "" "" "g.94005500G>A" "" "VUS" ""
"0000123108" "0" "50" "1" "94467548" "94467548" "subst" "0.00295661" "01695" "ABCA4_000788" "g.94467548C>G" "334, 121350, 0, 0.002752" "{PMID:Zernant 2011:21911583}" "" "c.6148G>C" "" "Germline" "-" "" "0" "" "" "g.94001992C>G" "" "VUS" ""
"0000123109" "0" "50" "1" "94463568" "94463603" "del" "0" "01695" "ABCA4_000805" "g.94463568_94463603del" "" "{PMID:Zernant 2011:21911583}" "" "c.6543_6578del" "" "Germline" "-" "" "0" "" "" "g.93998012_93998047del" "" "VUS" ""
"0000123110" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Zernant 2011:21911583}" "" "c.1622T>C/3113C>T" "" "Germline" "-" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000123111" "1" "50" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Zernant 2011:21911583}" "" "c.1622T>C/3113C>T" "" "Germline" "-" "" "0" "" "" "g.94043413G>A" "" "VUS" ""
"0000123112" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Zernant 2011:21911583}" "" "c.1622T>C/3113C>T" "" "Germline" "-" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000123113" "1" "50" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Zernant 2011:21911583}" "" "c.1622T>C/3113C>T" "" "Germline" "-" "" "0" "" "" "g.94043413G>A" "" "VUS" ""
"0000123114" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Zernant 2011:21911583}" "" "c.1622T>C/3113C>T" "" "Germline" "-" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000123115" "1" "50" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Zernant 2011:21911583}" "" "c.1622T>C/3113C>T" "" "Germline" "-" "" "0" "" "" "g.94043413G>A" "" "VUS" ""
"0000123116" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Zernant 2011:21911583}" "" "c.1622T>C/3113C>T" "" "Germline" "-" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000123117" "1" "50" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Zernant 2011:21911583}" "" "c.1622T>C/3113C>T" "" "Germline" "-" "" "0" "" "" "g.94043413G>A" "" "VUS" ""
"0000123118" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Zernant 2011:21911583}" "" "c.1622T>C/3113C>T" "" "Germline" "-" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000123119" "1" "50" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Zernant 2011:21911583}" "" "c.1622T>C/3113C>T" "" "Germline" "-" "" "0" "" "" "g.94043413G>A" "" "VUS" ""
"0000123120" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Zernant 2011:21911583}" "" "c.1622T>C/3113C>T" "" "Germline" "-" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000123121" "1" "50" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Zernant 2011:21911583}" "" "c.1622T>C/3113C>T" "" "Germline" "-" "" "0" "" "" "g.94043413G>A" "" "VUS" ""
"0000123122" "0" "50" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Zernant 2011:21911583}" "" "c.5461-10T>C" "" "Germline" "-" "" "0" "" "" "g.94011395A>G" "" "VUS" ""
"0000123123" "0" "50" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Zernant 2011:21911583}" "" "c.5461-10T>C" "" "Germline" "-" "" "0" "" "" "g.94011395A>G" "" "VUS" ""
"0000123124" "0" "50" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Zernant 2011:21911583}" "" "c.5461-10T>C" "" "Germline" "-" "" "0" "" "" "g.94011395A>G" "" "VUS" ""
"0000123125" "0" "50" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Zernant 2011:21911583}" "" "c.5461-10T>C" "" "Germline" "-" "" "0" "" "" "g.94011395A>G" "" "VUS" ""
"0000123126" "0" "50" "1" "94466556" "94466556" "subst" "4.06164E-6" "01695" "ABCA4_000831" "g.94466556G>C" "" "{PMID:Zernant 2011:21911583}" "" "c.6386+2C>G" "" "Germline" "-" "" "0" "" "" "g.94001000G>C" "" "VUS" ""
"0000123127" "3" "70" "1" "94543269" "94543269" "subst" "0.000179087" "01695" "ABCA4_000307" "g.94543269G>A" "26, 120500, 0, 0.0002158" "{PMID:Zernant 2011:21911583}, {PMID:Lee 2017:28327576}, {DOI:Lee 2017:10.1038/ejhg.2017.13}" "" "c.1531C>T" "On its own not significantely found more often in published STGD compared to ExAC (p-value 0.37). However, together with other non-significant variants published related to STGD, they are significantly more often in STGD patients (p-value <0.01)." "Germline" "?" "" "0" "" "" "g.94077713G>A" "" "likely pathogenic" ""
"0000123128" "0" "70" "1" "94495083" "94495083" "subst" "0.000124542" "01695" "ABCA4_000542" "g.94495083G>A" "11, 77176, 0, 0.0001425" "{PMID:Zernant 2011:21911583}" "" "c.4457C>T" "" "Germline" "-" "" "0" "" "" "g.94029527G>A" "" "likely pathogenic" ""
"0000123129" "0" "70" "1" "94512500" "94512500" "subst" "0" "01695" "ABCA4_000685" "g.94512500T>A" "" "{PMID:Zernant 2011:21911583}" "" "c.2893A>T" "" "Germline" "?" "" "0" "" "" "g.94046944T>A" "" "likely pathogenic" ""
"0000123130" "0" "50" "1" "94466628" "94466628" "subst" "0.000109748" "01695" "ABCA4_000094" "g.94466628G>A" "14, 121222, 0, 0.0001155" "{PMID:Zernant 2011:21911583}" "" "c.6316C>T" "" "Germline" "-" "" "0" "" "" "g.94001072G>A" "" "VUS" ""
"0000123131" "0" "70" "1" "94545023" "94545023" "subst" "4.06299E-6" "01695" "ABCA4_000334" "g.94545023A>T" "1, 121362, 0, 0.00000824" "{PMID:Zernant 2011:21911583}" "" "c.1100-6T>A" "" "Germline" "?" "" "0" "" "" "g.94079467A>T" "" "likely pathogenic" ""
"0000123132" "0" "90" "1" "94463428" "94463428" "subst" "1.62621E-5" "01695" "ABCA4_000854" "g.94463428T>C" "2, 121086, 0, 0.00001652" "{PMID:Zernant 2011:21911583}" "" "c.6718A>G" "" "Germline" "-" "" "0" "" "" "g.93997872T>C" "" "pathogenic" ""
"0000123133" "0" "70" "1" "94510302" "94510302" "subst" "0" "01695" "ABCA4_000676" "g.94510302T>C" "" "{PMID:Zernant 2011:21911583}" "" "c.2919-2A>G" "" "Germline" "?" "" "0" "" "" "g.94044746T>C" "" "likely pathogenic" ""
"0000123134" "1" "50" "1" "94546248" "94546248" "del" "2.03666E-5" "01695" "ABCA4_000352" "g.94546248del" "" "{PMID:Zernant 2011:21911583}, {PMID:Lee 2017:28327576}, {DOI:Lee 2017:10.1038/ejhg.2017.13}" "" "c.885delC" "" "Germline" "-" "" "0" "" "" "g.94080692del" "" "VUS" ""
"0000123135" "0" "50" "1" "94508934" "94508934" "subst" "0" "01695" "ABCA4_000654" "g.94508934C>T" "" "{PMID:Zernant 2011:21911583}" "" "c.3148G>A" "" "Germline" "-" "" "0" "" "" "g.94043378C>T" "" "VUS" ""
"0000123136" "0" "50" "1" "94502702" "94502702" "subst" "0" "01695" "ABCA4_000595" "g.94502702T>C" "" "{PMID:Zernant 2011:21911583}" "" "c.3812A>G" "" "Germline" "-" "" "0" "" "" "g.94037146T>C" "" "VUS" ""
"0000123137" "0" "50" "1" "94502312" "94502312" "del" "0" "01695" "ABCA4_000590" "g.94502312del" "" "{PMID:Zernant 2011:21911583}" "" "c.3846delA" "" "Germline" "-" "" "0" "" "" "g.94036756del" "" "VUS" ""
"0000123138" "0" "50" "1" "94496557" "94496557" "subst" "8.12381E-6" "01695" "ABCA4_000562" "g.94496557G>T" "" "{PMID:Zernant 2011:21911583}" "" "c.4248C>A" "" "Germline" "-" "" "0" "" "" "g.94031001G>T" "" "VUS" ""
"0000123139" "0" "50" "1" "94495073" "94495073" "subst" "0.000245534" "01695" "ABCA4_000540" "g.94495073C>A" "32, 63314, 0, 0.0005054" "{PMID:Zernant 2011:21911583}" "" "c.4467G>T" "" "Germline" "-" "" "0" "" "" "g.94029517C>A" "" "VUS" ""
"0000123140" "0" "50" "1" "94487505" "94487505" "subst" "4.06349E-6" "01695" "ABCA4_000507" "g.94487505T>C" "" "{PMID:Zernant 2011:21911583}" "" "c.4670A>G" "" "Germline" "-" "" "0" "" "" "g.94021949T>C" "" "VUS" ""
"0000123141" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Zernant 2011:21911583}" "" "c.5882G>A" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000123142" "0" "50" "1" "94502346" "94502346" "subst" "0" "01695" "ABCA4_000593" "g.94502346T>C" "" "{PMID:Zernant 2011:21911583}" "" "c.3814-2A>G" "" "Germline" "-" "" "0" "" "" "g.94036790T>C" "" "VUS" ""
"0000123143" "0" "50" "1" "94481294" "94481294" "subst" "0" "01695" "ABCA4_000110" "g.94481294C>T" "" "{PMID:Zernant 2011:21911583}" "" "c.5312+1G>A" "" "Germline" "-" "" "0" "" "" "g.94015738C>T" "" "VUS" ""
"0000123144" "0" "50" "1" "94546234" "94546234" "subst" "0" "01695" "ABCA4_000351" "g.94546234G>T" "" "{PMID:Zernant 2011:21911583}" "" "c.899C>A" "" "Germline" "-" "" "0" "" "" "g.94080678G>T" "" "VUS" ""
"0000123145" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Zernant 2011:21911583}" "" "c.5882G>A" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000123146" "0" "50" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "14, 121282, 0, 0.0001154" "{PMID:Zernant 2011:21911583}" "" "c.3322C>T" "" "Germline" "-" "" "0" "" "" "g.94042767G>A" "" "VUS" ""
"0000123147" "0" "50" "1" "94577010" "94577010" "subst" "1.22004E-5" "01695" "ABCA4_000224" "g.94577010T>C" "3, 119734, 0, 0.00002506" "{PMID:Zernant 2011:21911583}" "" "c.286A>G" "" "Germline" "-" "" "0" "" "" "g.94111454T>C" "" "VUS" ""
"0000123148" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Zernant 2011:21911583}" "" "c.5882G>A" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000123149" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Zernant 2011:21911583}" "" "c.1622T>C/3113C>T" "" "Germline" "-" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000123150" "1" "50" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Zernant 2011:21911583}" "" "c.1622T>C/3113C>T" "" "Germline" "-" "" "0" "" "" "g.94043413G>A" "" "VUS" ""
"0000123151" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Zernant 2011:21911583}" "" "c.1622T>C/3113C>T" "" "Germline" "-" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000123152" "1" "50" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Zernant 2011:21911583}" "" "c.1622T>C/3113C>T" "" "Germline" "-" "" "0" "" "" "g.94043413G>A" "" "VUS" ""
"0000123153" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Zernant 2011:21911583}" "" "c.1622T>C/3113C>T" "" "Germline" "-" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000123154" "1" "50" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Zernant 2011:21911583}" "" "c.1622T>C/3113C>T" "" "Germline" "-" "" "0" "" "" "g.94043413G>A" "" "VUS" ""
"0000123155" "0" "70" "1" "0" "0" "" "0" "01695" "ABCA4_000000" "g.?" "" "{PMID:Zernant 2011:21911583}" "" "c.3385C>T" "" "Germline" "?" "" "0" "" "" "" "" "likely pathogenic" ""
"0000123156" "3" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Duno 2012:22229821}" "" "c.1622C>T; c.3113C>T" "" "Germline" "?" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000123157" "3" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Duno 2012:22229821}" "" "c.1622C>T; c.3113C>T" "" "Germline" "?" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic" ""
"0000123158" "0" "70" "1" "94466393" "94466393" "subst" "0" "01695" "ABCA4_000816" "g.94466393T>C" "" "{PMID:Duno 2012:22229821}" "" "c.6478A>G" "" "Germline" "?" "" "0" "" "" "g.94000837T>C" "" "likely pathogenic" ""
"0000123159" "0" "70" "1" "94506907" "94506907" "subst" "0" "01695" "ABCA4_000624" "g.94506907C>T" "" "{PMID:Duno 2012:22229821}" "" "c.3380G>A" "" "Germline" "-" "" "0" "" "" "g.94041351C>T" "" "likely pathogenic" ""
"0000123160" "0" "70" "1" "94502778" "94502778" "subst" "0" "01695" "ABCA4_000601" "g.94502778G>C" "" "{PMID:Duno 2012:22229821}" "" "c.3736C>G" "" "Germline" "?" "" "0" "" "" "g.94037222G>C" "" "likely pathogenic" ""
"0000123161" "0" "70" "1" "94466422" "94466422" "subst" "2.43651E-5" "01695" "ABCA4_000817" "g.94466422C>T" "3, 121398, 0, 0.00002471" "{PMID:Duno 2012:22229821}" "" "c.6449G>A" "" "Germline" "-" "" "0" "" "" "g.94000866C>T" "" "likely pathogenic" ""
"0000123162" "0" "70" "1" "94497360" "94497360" "subst" "4.0949E-6" "01695" "ABCA4_000575" "g.94497360G>A" "" "{PMID:Duno 2012:22229821}" "" "c.4102C>T" "" "Germline" "?" "" "0" "" "" "g.94031804G>A" "" "likely pathogenic" ""
"0000123163" "0" "70" "1" "94495078" "94495078" "subst" "8.37044E-6" "01695" "ABCA4_000042" "g.94495078A>G" "1, 70400, 0, 0.0000142" "{PMID:Duno 2012:22229821}" "" "c.4462T>C" "" "Germline" "-" "" "0" "" "" "g.94029522A>G" "" "likely pathogenic" ""
"0000123164" "0" "90" "1" "94487509" "94487509" "subst" "0" "01695" "ABCA4_000509" "g.94487509T>C" "" "{PMID:Duno 2012:22229821}" "" "c.4668-2A>G" "" "Germline" "?" "" "0" "" "" "g.94021953T>C" "" "pathogenic" ""
"0000123165" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Duno 2012:22229821}" "" "c.2588G>C" "" "Germline" "-" "rs76157638" "0" "" "" "g.94051698C>G" "" "pathogenic" ""
"0000123166" "0" "90" "1" "94487397" "94487397" "subst" "0" "01695" "ABCA4_000493" "g.94487397C>T" "" "{PMID:Duno 2012:22229821}" "" "c.4773+5G>A" "" "Germline" "?" "" "0" "" "" "g.94021841C>T" "" "pathogenic" ""
"0000123167" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Duno 2012:22229821}" "" "c.2588G>C" "" "Germline" "-" "rs76157638" "0" "" "" "g.94051698C>G" "" "pathogenic" ""
"0000123168" "0" "90" "1" "94577112" "94577112" "subst" "4.06164E-6" "01695" "ABCA4_000051" "g.94577112G>A" "" "{PMID:Duno 2012:22229821}" "" "c.184C>T" "" "Germline" "?" "" "0" "" "" "g.94111556G>A" "" "pathogenic" ""
"0000123169" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Duno 2012:22229821}" "" "c.2588G>C" "" "Germline" "-" "rs76157638" "0" "" "" "g.94051698C>G" "" "likely pathogenic" ""
"0000123170" "0" "90" "1" "94526289" "94526289" "subst" "0.000417202" "01695" "ABCA4_000767" "g.94526289A>C" "67, 103634, 0, 0.0006465" "{PMID:Duno 2012:22229821}" "" "c.1964T>G" "" "Germline" "?" "" "0" "" "" "g.94060733A>C" "" "pathogenic" ""
"0000123171" "0" "70" "1" "94502748" "94502749" "dup" "0" "01695" "ABCA4_000598" "g.94502748_94502749dup" "" "{PMID:Duno 2012:22229821}" "" "c.3765_3766dupTG" "" "Germline" "-" "" "0" "" "" "g.94037192_94037193dup" "" "likely pathogenic" ""
"0000123172" "0" "90" "1" "94543271" "94543271" "subst" "0" "01695" "ABCA4_000308" "g.94543271A>C" "" "{PMID:Duno 2012:22229821}" "" "c.1529T>G" "" "Germline" "?" "" "0" "" "" "g.94077715A>C" "" "pathogenic" ""
"0000123173" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Duno 2012:22229821}" "" "c.2588G>C" "" "Germline" "-" "rs76157638" "0" "" "" "g.94051698C>G" "" "likely pathogenic" ""
"0000123174" "3" "70" "1" "94543271" "94543271" "subst" "0" "01695" "ABCA4_000308" "g.94543271A>C" "" "{PMID:Duno 2012:22229821}" "" "c.1529T>G" "" "Germline" "?" "" "0" "" "" "g.94077715A>C" "" "likely pathogenic" ""
"0000123175" "0" "30" "1" "94543271" "94543271" "subst" "0" "01695" "ABCA4_000308" "g.94543271A>C" "" "{PMID:Duno 2012:22229821}" "" "c.1529T>G" "" "Germline" "?" "" "0" "" "" "g.94077715A>C" "" "likely benign" ""
"0000123176" "0" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "173, 121304, 0, 0.001426" "{PMID:Duno 2012:22229821}" "" "c.3113C>T" "" "Germline" "-" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic" ""
"0000123177" "0" "70" "1" "94543271" "94543271" "subst" "0" "01695" "ABCA4_000308" "g.94543271A>C" "" "{PMID:Duno 2012:22229821}" "" "c.1529T>G" "" "Germline" "?" "" "0" "" "" "g.94077715A>C" "" "likely pathogenic" ""
"0000123178" "0" "70" "1" "94471055" "94471055" "subst" "0.00035346" "01695" "ABCA4_000029" "g.94471055C>T" "47, 121404, 1, 0.0003871" "{PMID:Duno 2012:22229821}" "" "c.6089G>A" "" "Germline" "-" "" "0" "" "" "g.94005499C>T" "" "likely pathogenic" ""
"0000123179" "3" "70" "1" "94512498" "94512498" "subst" "0" "01695" "ABCA4_000683" "g.94512498A>C" "" "{PMID:Duno 2012:22229821}" "" "c.2895T>G" "" "Germline" "?" "" "0" "" "" "g.94046942A>C" "" "likely pathogenic" ""
"0000123180" "0" "70" "1" "94497360" "94497360" "subst" "4.0949E-6" "01695" "ABCA4_000575" "g.94497360G>A" "" "{PMID:Duno 2012:22229821}" "" "c.4102C>T" "" "Germline" "?" "" "0" "" "" "g.94031804G>A" "" "likely pathogenic" ""
"0000123181" "0" "70" "1" "94528780" "94528780" "subst" "4.06171E-6" "01695" "ABCA4_000299" "g.94528780C>T" "1, 121410, 0, 0.000008237" "{PMID:Duno 2012:22229821}" "" "c.1648G>A" "" "Germline" "-" "" "0" "" "" "g.94063224C>T" "" "likely pathogenic" ""
"0000123182" "0" "70" "1" "94476817" "94476817" "subst" "4.06458E-6" "01695" "ABCA4_000427" "g.94476817C>T" "1, 120908, 0, 0.000008271" "{PMID:Duno 2012:22229821}" "" "c.5584+1G>A" "" "Germline" "?" "" "0" "" "" "g.94011261C>T" "" "likely pathogenic" ""
"0000123183" "1" "50" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Duno 2012:22229821}" "" "c.[1622C>T+3113C>T]" "" "Germline" "-" "" "0" "" "" "g.94063250A>G" "" "VUS" ""
"0000123184" "1" "50" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Duno 2012:22229821}" "" "c.[1622C>T+3113C>T]" "" "Germline" "-" "" "0" "" "" "g.94043413G>A" "" "VUS" ""
"0000123185" "0" "70" "1" "94543271" "94543271" "subst" "0" "01695" "ABCA4_000308" "g.94543271A>C" "" "{PMID:Duno 2012:22229821}" "" "c.1529T>G" "" "Germline" "?" "" "0" "" "" "g.94077715A>C" "" "likely pathogenic" ""
"0000123186" "0" "70" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "21, 121302, 0, 0.0001731" "{PMID:Duno 2012:22229821}" "" "c.2894A>G" "" "Germline" "-" "" "0" "" "" "g.94046943T>C" "" "likely pathogenic" ""
"0000123187" "0" "90" "1" "94520847" "94520847" "del" "0" "01695" "ABCA4_000728" "g.94520847del" "" "{PMID:Duno 2012:22229821}" "" "c.2408delG" "" "Germline" "?" "" "0" "" "" "g.94055291del" "" "pathogenic" ""
"0000123188" "0" "90" "1" "94508456" "94508456" "subst" "4.0621E-6" "01695" "ABCA4_000650" "g.94508456T>C" "" "{PMID:Duno 2012:22229821}" "" "c.3191-2A>G" "" "Germline" "-" "" "0" "" "" "g.94042900T>C" "" "pathogenic" ""
"0000123189" "0" "90" "1" "94496562" "94496562" "subst" "0" "01695" "ABCA4_000563" "g.94496562T>G" "" "{PMID:Duno 2012:22229821}" "" "c.4243A>C" "" "Germline" "?" "" "0" "" "" "g.94031006T>G" "" "pathogenic" ""
"0000123190" "0" "70" "1" "94520847" "94520847" "del" "0" "01695" "ABCA4_000728" "g.94520847del" "" "{PMID:Duno 2012:22229821}" "" "c.2408delG" "" "Germline" "-" "" "0" "" "" "g.94055291del" "" "likely pathogenic" ""
"0000123191" "0" "70" "1" "94466557" "94466557" "subst" "4.06154E-6" "01695" "ABCA4_000832" "g.94466557C>T" "1, 121394, 0, 0.000008238" "{PMID:Duno 2012:22229821}" "" "c.6386+1G>A" "" "Germline" "?" "" "0" "" "" "g.94001001C>T" "" "likely pathogenic" ""
"0000123192" "0" "90" "1" "94543271" "94543271" "subst" "0" "01695" "ABCA4_000308" "g.94543271A>C" "" "{PMID:Duno 2012:22229821}" "" "c.1529T>G" "" "Germline" "-" "" "0" "" "" "g.94077715A>C" "" "pathogenic" ""
"0000123193" "0" "90" "1" "94471046" "94471046" "subst" "0" "01695" "ABCA4_000793" "g.94471046A>C" "" "{PMID:Duno 2012:22229821}" "" "c.6098T>G" "" "Germline" "?" "" "0" "" "" "g.94005490A>C" "" "pathogenic" ""
"0000123194" "0" "70" "1" "94488940" "94488940" "subst" "0" "01695" "ABCA4_000510" "g.94488940A>C" "" "{PMID:Duno 2012:22229821}" "" "c.4667+2G>T" "" "Germline" "-" "" "0" "" "" "g.94023384A>C" "" "likely pathogenic" ""
"0000123195" "0" "70" "1" "94520847" "94520847" "del" "0" "01695" "ABCA4_000728" "g.94520847del" "" "{PMID:Duno 2012:22229821}" "" "c.2408delG" "" "Germline" "?" "" "0" "" "" "g.94055291del" "" "likely pathogenic" ""
"0000123196" "0" "90" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "21, 121302, 0, 0.0001731" "{PMID:Duno 2012:22229821}" "" "c.2894A>G" "" "Germline" "-" "" "0" "" "" "g.94046943T>C" "" "pathogenic" ""
"0000123197" "0" "70" "1" "94487436" "94487436" "subst" "2.03047E-5" "01695" "ABCA4_000498" "g.94487436A>G" "3, 121364, 0, 0.00002472" "{PMID:Duno 2012:22229821}" "" "c.4739T>C" "" "Germline" "?" "" "0" "" "" "g.94021880A>G" "" "likely pathogenic" ""
"0000123198" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Duno 2012:22229821}" "" "c.[1622C>T+3113C>T]" "" "Germline" "-" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000123199" "1" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Duno 2012:22229821}" "" "c.[1622C>T+3113C>T]" "" "Germline" "-" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic" ""
"0000123200" "0" "70" "1" "94520847" "94520847" "del" "0" "01695" "ABCA4_000728" "g.94520847del" "" "{PMID:Duno 2012:22229821}" "" "c.2408delG" "" "Germline" "?" "" "0" "" "" "g.94055291del" "" "likely pathogenic" ""
"0000123201" "0" "90" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "21, 121302, 0, 0.0001731" "{PMID:Duno 2012:22229821}" "" "c.2894A>G" "" "Germline" "-" "" "0" "" "" "g.94046943T>C" "" "pathogenic" ""
"0000123202" "0" "70" "1" "94522296" "94522296" "subst" "0" "01695" "ABCA4_000743" "g.94522296C>T" "" "{PMID:Duno 2012:22229821}" "" "c.2243G>A" "" "Germline" "?" "" "0" "" "" "g.94056740C>T" "" "likely pathogenic" ""
"0000123203" "0" "70" "1" "94528248" "94528248" "subst" "0" "01695" "ABCA4_000280" "g.94528248A>G" "" "{PMID:Duno 2012:22229821}" "" "c.1822T>C" "" "Germline" "-" "" "0" "" "" "g.94062692A>G" "" "likely pathogenic" ""
"0000123204" "0" "90" "1" "94522239" "94522239" "subst" "2.03305E-5" "01695" "ABCA4_000736" "g.94522239A>T" "1, 119332, 0, 0.00000838" "{PMID:Duno 2012:22229821}" "" "c.2300T>A" "" "Germline" "?" "" "0" "" "" "g.94056683A>T" "" "pathogenic" ""
"0000123205" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Duno 2012:22229821}" "" "c.2588G>C" "" "Germline" "-" "rs76157638" "0" "" "" "g.94051698C>G" "" "likely pathogenic" ""
"0000123206" "0" "50" "1" "94497360" "94497360" "subst" "4.0949E-6" "01695" "ABCA4_000575" "g.94497360G>A" "" "{PMID:Duno 2012:22229821}" "" "c.4102C>T" "" "Germline" "?" "" "0" "" "" "g.94031804G>A" "" "VUS" ""
"0000123207" "0" "70" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Duno 2012:22229821}" "" "c.5461-10T>C" "" "Germline" "-" "" "0" "" "" "g.94011395A>G" "" "likely pathogenic" ""
"0000123208" "0" "70" "1" "94512478" "94512478" "subst" "3.65871E-5" "01695" "ABCA4_000678" "g.94512478G>T" "7, 121308, 0, 0.0000577" "{PMID:Duno 2012:22229821}" "" "c.2915C>A" "" "Germline" "?" "" "0" "" "" "g.94046922G>T" "" "likely pathogenic" ""
"0000123209" "0" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "12, 60116, 0, 0.0001996" "{PMID:Duno 2012:22229821}" "" "c.4469G>A" "" "Germline" "-" "" "0" "" "" "g.94029515C>T" "" "likely pathogenic" ""
"0000123210" "0" "30" "1" "94476874" "94476879" "del" "0" "01695" "ABCA4_000431" "g.94476874_94476879del" "" "{PMID:Duno 2012:22229821}" "" "c.5523_5528del" "" "Germline" "?" "" "0" "" "" "g.94011318_94011323del" "" "likely benign" ""
"0000123211" "0" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "173, 121304, 0, 0.001426" "{PMID:Duno 2012:22229821}" "" "c.3113C>T" "" "Germline" "-" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic" ""
"0000123212" "0" "70" "1" "94506907" "94506907" "subst" "0" "01695" "ABCA4_000624" "g.94506907C>T" "" "{PMID:Duno 2012:22229821}" "" "c.3380G>A" "" "Germline" "?" "" "0" "" "" "g.94041351C>T" "" "likely pathogenic" ""
"0000123213" "0" "70" "1" "94471055" "94471055" "subst" "0.00035346" "01695" "ABCA4_000029" "g.94471055C>T" "47, 121404, 1, 0.0003871" "{PMID:Duno 2012:22229821}" "" "c.6089G>A" "" "Germline" "-" "" "0" "" "" "g.94005499C>T" "" "likely pathogenic" ""
"0000123214" "0" "70" "1" "94466557" "94466557" "subst" "4.06154E-6" "01695" "ABCA4_000832" "g.94466557C>T" "1, 121394, 0, 0.000008238" "{PMID:Duno 2012:22229821}" "" "c.6386+1G>A" "" "Germline" "?" "" "0" "" "" "g.94001001C>T" "" "likely pathogenic" ""
"0000123215" "0" "90" "1" "94471055" "94471055" "subst" "0.00035346" "01695" "ABCA4_000029" "g.94471055C>T" "47, 121404, 1, 0.0003871" "{PMID:Duno 2012:22229821}" "" "c.6089G>A" "" "Germline" "-" "" "0" "" "" "g.94005499C>T" "" "pathogenic" ""
"0000123216" "3" "70" "1" "94497393" "94497393" "subst" "2.04188E-5" "01695" "ABCA4_000578" "g.94497393C>T" "4, 121362, 0, 0.00003296" "{PMID:Duno 2012:22229821}" "" "c.4069G>A" "" "Germline" "?" "" "0" "" "" "g.94031837C>T" "" "likely pathogenic" ""
"0000123217" "0" "70" "1" "94466557" "94466557" "subst" "4.06154E-6" "01695" "ABCA4_000832" "g.94466557C>T" "1, 121394, 0, 0.000008238" "{PMID:Duno 2012:22229821}" "" "c.6386+1G>A" "" "Germline" "?" "" "0" "" "" "g.94001001C>T" "" "likely pathogenic" ""
"0000123218" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "14, 121282, 0, 0.0001154" "{PMID:Duno 2012:22229821}" "" "c.3322C>T" "" "Germline" "-" "" "0" "" "" "g.94042767G>A" "" "pathogenic" ""
"0000123219" "0" "50" "1" "94476377" "94476377" "subst" "0.00160473" "01695" "ABCA4_000411" "g.94476377C>T" "216, 121058, 1, 0.001784" "{PMID:Duno 2012:22229821}" "" "c.5693G>A" "On its own not significantely found more often in published STGD compared to ExAC (p-value 0.39). However, together with other non-significant variants published related to STGD, they are significantly more often in STGD patients (p-value <0.01)." "Germline" "?" "" "0" "" "" "g.94010821C>T" "" "VUS" ""
"0000123220" "0" "30" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Duno 2012:22229821}" "" "c.5461-10T>C" "" "Germline" "-" "" "0" "" "" "g.94011395A>G" "" "likely benign" ""
"0000123221" "0" "70" "1" "94466393" "94466393" "subst" "0" "01695" "ABCA4_000816" "g.94466393T>C" "" "{PMID:Duno 2012:22229821}" "" "c.6478A>G" "" "Germline" "?" "" "0" "" "" "g.94000837T>C" "" "likely pathogenic" ""
"0000123222" "0" "70" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "21, 121302, 0, 0.0001731" "{PMID:Duno 2012:22229821}" "" "c.2894A>G" "" "Germline" "-" "" "0" "" "" "g.94046943T>C" "" "likely pathogenic" ""
"0000123223" "3" "90" "1" "94520847" "94520847" "del" "0" "01695" "ABCA4_000728" "g.94520847del" "" "{PMID:Duno 2012:22229821}" "" "c.2408delG" "" "Germline" "?" "" "0" "" "" "g.94055291del" "" "pathogenic" ""
"0000123224" "0" "90" "1" "94497393" "94497393" "subst" "2.04188E-5" "01695" "ABCA4_000578" "g.94497393C>T" "4, 121362, 0, 0.00003296" "{PMID:Duno 2012:22229821}" "" "c.4069G>A" "" "Germline" "?" "" "0" "" "" "g.94031837C>T" "" "pathogenic" ""
"0000123225" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Duno 2012:22229821}" "" "c.2588G>C" "" "Germline" "-" "rs76157638" "0" "" "" "g.94051698C>G" "" "likely pathogenic" ""
"0000123226" "0" "90" "1" "94488956" "94488956" "subst" "0" "01695" "ABCA4_000515" "g.94488956C>T" "" "{PMID:Duno 2012:22229821}" "" "c.4653G>A" "" "Germline" "?" "" "0" "" "" "g.94023400C>T" "" "pathogenic" ""
"0000123227" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Duno 2012:22229821}" "" "c.2588G>C" "" "Germline" "-" "rs76157638" "0" "" "" "g.94051698C>G" "" "pathogenic" ""
"0000123228" "0" "70" "1" "94473189" "94473189" "subst" "0" "01695" "ABCA4_000386" "g.94473189C>T" "" "{PMID:Duno 2012:22229821}" "" "c.6005+1G>A" "" "Germline" "?" "" "0" "" "" "g.94007633C>T" "" "likely pathogenic" ""
"0000123229" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Duno 2012:22229821}" "" "c.5882G>A" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "pathogenic" ""
"0000123230" "0" "30" "1" "94487399" "94487399" "subst" "7.30959E-5" "01695" "ABCA4_000038" "g.94487399T>C" "14, 121126, 0, 0.0001156" "{PMID:Duno 2012:22229821}" "" "c.4773+3A>G" "" "Germline" "?" "" "0" "" "" "g.94021843T>C" "" "likely benign" ""
"0000123231" "0" "90" "1" "94514466" "94514466" "subst" "0.00192081" "01695" "ABCA4_000008" "g.94514466T>C" "212, 121284, 0, 0.001748" "{PMID:Duno 2012:22229821}" "" "c.2701A>G" "" "Germline" "-" "" "0" "" "" "g.94048910T>C" "" "pathogenic" ""
"0000123232" "0" "30" "1" "94526265" "94526265" "subst" "0" "01695" "ABCA4_000143" "g.94526265C>T" "" "{PMID:Burke 2012:22312191}" "" "W663X" "" "Germline" "-" "" "0" "" "" "g.94060709C>T" "" "likely benign" ""
"0000123233" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "173, 121304, 0, 0.001426" "{PMID:Burke 2012:22312191}" "" "A1038V" "" "Germline" "?" "" "0" "" "" "g.94043413G>A" "" "pathogenic" ""
"0000123234" "0" "30" "1" "94526265" "94526265" "subst" "0" "01695" "ABCA4_000143" "g.94526265C>T" "" "{PMID:Burke 2012:22312191}" "" "W663X" "" "Germline" "-" "" "0" "" "" "g.94060709C>T" "" "likely benign" ""
"0000123235" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "173, 121304, 0, 0.001426" "{PMID:Burke 2012:22312191}" "" "A1038V" "" "Germline" "?" "" "0" "" "" "g.94043413G>A" "" "pathogenic" ""
"0000123236" "11" "70" "1" "94526265" "94526265" "subst" "0" "01695" "ABCA4_000143" "g.94526265C>T" "" "{PMID:Burke 2012:22312191}" "" "W663X" "" "Germline" "-" "" "0" "" "" "g.94060709C>T" "" "likely pathogenic" ""
"0000123237" "21" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Burke 2012:22312191}" "" "G1961E" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "pathogenic" ""
"0000123238" "11" "70" "1" "94526265" "94526265" "subst" "0" "01695" "ABCA4_000143" "g.94526265C>T" "" "{PMID:Burke 2012:22312191}" "" "W663X" "" "Germline" "-" "" "0" "" "" "g.94060709C>T" "" "likely pathogenic" ""
"0000123239" "21" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Burke 2012:22312191}" "" "G1961E" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "pathogenic" ""
"0000123240" "0" "90" "1" "94577135" "94577135" "subst" "2.43718E-5" "01695" "ABCA4_000240" "g.94577135C>T" "2, 121210, 0, 0.0000165" "{PMID:Roberts 2012:22328824}" "" "c.161G>A, p.Cys54Tyr" "" "Germline" "-" "" "0" "" "" "g.94111579C>T" "" "pathogenic" ""
"0000123241" "0" "90" "1" "94577135" "94577135" "subst" "2.43718E-5" "01695" "ABCA4_000240" "g.94577135C>T" "2, 121210, 0, 0.0000165" "{PMID:Roberts 2012:22328824}" "" "c.161G>A, p.Cys54Tyr" "" "Germline" "-" "" "0" "" "" "g.94111579C>T" "" "pathogenic" ""
"0000123242" "0" "50" "1" "94568687" "94568687" "subst" "1.62641E-5" "01695" "ABCA4_000024" "g.94568687G>A" "1, 120844, 0, 0.000008275" "{PMID:Roberts 2012:22328824}" "" "c.454C>T, p.Arg152*" "" "Germline" "-" "" "0" "" "" "g.94103131G>A" "" "VUS" ""
"0000123243" "0" "50" "1" "94568687" "94568687" "subst" "1.62641E-5" "01695" "ABCA4_000024" "g.94568687G>A" "1, 120844, 0, 0.000008275" "{PMID:Roberts 2012:22328824}" "" "c.454C>T, p.Arg152*" "" "Germline" "-" "" "0" "" "" "g.94103131G>A" "" "VUS" ""
"0000123244" "0" "50" "1" "94568687" "94568687" "subst" "1.62641E-5" "01695" "ABCA4_000024" "g.94568687G>A" "1, 120844, 0, 0.000008275" "{PMID:Roberts 2012:22328824}" "" "c.454C>T, p.Arg152*" "" "Germline" "-" "" "0" "" "" "g.94103131G>A" "" "VUS" ""
"0000123245" "0" "50" "1" "94568687" "94568687" "subst" "1.62641E-5" "01695" "ABCA4_000024" "g.94568687G>A" "1, 120844, 0, 0.000008275" "{PMID:Roberts 2012:22328824}" "" "c.454C>T, p.Arg152*" "" "Germline" "-" "" "0" "" "" "g.94103131G>A" "" "VUS" ""
"0000123246" "0" "50" "1" "94568687" "94568687" "subst" "1.62641E-5" "01695" "ABCA4_000024" "g.94568687G>A" "1, 120844, 0, 0.000008275" "{PMID:Roberts 2012:22328824}" "" "c.454C>T, p.Arg152*" "" "Germline" "-" "" "0" "" "" "g.94103131G>A" "" "VUS" ""
"0000123247" "0" "50" "1" "94568687" "94568687" "subst" "1.62641E-5" "01695" "ABCA4_000024" "g.94568687G>A" "1, 120844, 0, 0.000008275" "{PMID:Roberts 2012:22328824}" "" "c.454C>T, p.Arg152*" "" "Germline" "-" "" "0" "" "" "g.94103131G>A" "" "VUS" ""
"0000123248" "0" "50" "1" "94568686" "94568686" "subst" "0.00258122" "01695" "ABCA4_000212" "g.94568686C>T" "290, 120866, 1, 0.002399" "{PMID:Roberts 2012:22328824}" "" "c.455G>A, p.Arg152Gln" "" "Germline" "-" "" "0" "" "" "g.94103130C>T" "" "VUS" ""
"0000123249" "0" "50" "1" "94568686" "94568686" "subst" "0.00258122" "01695" "ABCA4_000212" "g.94568686C>T" "290, 120866, 1, 0.002399" "{PMID:Roberts 2012:22328824}" "" "c.455G>A, p.Arg152Gln" "" "Germline" "-" "" "0" "" "" "g.94103130C>T" "" "VUS" ""
"0000123250" "0" "50" "1" "94568627" "94568627" "subst" "0.000422314" "01695" "ABCA4_000207" "g.94568627C>T" "56, 121358, 0, 0.0004614" "{PMID:Roberts 2012:22328824}" "" "c.514G>A, p.Gly172Ser" "" "Germline" "-" "" "0" "" "" "g.94103071C>T" "" "VUS" ""
"0000123251" "0" "50" "1" "94564451" "94564451" "subst" "0.000150413" "01695" "ABCA4_000378" "g.94564451T>G" "23, 121120, 0, 0.0001899" "{PMID:Roberts 2012:22328824}" "" "c.667A>C, p.Lys223Gln" "" "Germline" "-" "" "0" "" "" "g.94098895T>G" "" "VUS" ""
"0000123252" "0" "50" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "13, 121216, 0, 0.0001072" "{PMID:Roberts 2012:22328824}" "" "c.768G>T, p.V256V" "" "Germline" "-" "" "0" "" "" "g.94098794C>A" "" "VUS" ""
"0000123253" "0" "50" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "13, 121216, 0, 0.0001072" "{PMID:Roberts 2012:22328824}" "" "c.768G>T, p.V256V" "" "Germline" "-" "" "0" "" "" "g.94098794C>A" "" "VUS" ""
"0000123254" "0" "50" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "13, 121216, 0, 0.0001072" "{PMID:Roberts 2012:22328824}" "" "c.768G>T, p.V256V" "" "Germline" "-" "" "0" "" "" "g.94098794C>A" "" "VUS" ""
"0000123255" "0" "50" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "13, 121216, 0, 0.0001072" "{PMID:Roberts 2012:22328824}" "" "c.768G>T, p.V256V" "" "Germline" "-" "" "0" "" "" "g.94098794C>A" "" "VUS" ""
"0000123256" "0" "50" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "13, 121216, 0, 0.0001072" "{PMID:Roberts 2012:22328824}" "" "c.768G>T, p.V256V" "" "Germline" "-" "" "0" "" "" "g.94098794C>A" "" "VUS" ""
"0000123257" "0" "50" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "13, 121216, 0, 0.0001072" "{PMID:Roberts 2012:22328824}" "" "c.768G>T, p.V256V" "" "Germline" "-" "" "0" "" "" "g.94098794C>A" "" "VUS" ""
"0000123258" "0" "50" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "13, 121216, 0, 0.0001072" "{PMID:Roberts 2012:22328824}" "" "c.768G>T, p.V256V" "" "Germline" "-" "" "0" "" "" "g.94098794C>A" "" "VUS" ""
"0000123259" "0" "50" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "13, 121216, 0, 0.0001072" "{PMID:Roberts 2012:22328824}" "" "c.768G>T, p.V256V" "" "Germline" "-" "" "0" "" "" "g.94098794C>A" "" "VUS" ""
"0000123260" "0" "50" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "13, 121216, 0, 0.0001072" "{PMID:Roberts 2012:22328824}" "" "c.768G>T, p.V256V" "" "Germline" "-" "" "0" "" "" "g.94098794C>A" "" "VUS" ""
"0000123261" "0" "50" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "13, 121216, 0, 0.0001072" "{PMID:Roberts 2012:22328824}" "" "c.768G>T, p.V256V" "" "Germline" "-" "" "0" "" "" "g.94098794C>A" "" "VUS" ""
"0000123262" "0" "50" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "13, 121216, 0, 0.0001072" "{PMID:Roberts 2012:22328824}" "" "c.768G>T, p.V256V" "" "Germline" "-" "" "0" "" "" "g.94098794C>A" "" "VUS" ""
"0000123263" "0" "50" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "13, 121216, 0, 0.0001072" "{PMID:Roberts 2012:22328824}" "" "c.768G>T, p.V256V" "" "Germline" "-" "" "0" "" "" "g.94098794C>A" "" "VUS" ""
"0000123264" "0" "50" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "13, 121216, 0, 0.0001072" "{PMID:Roberts 2012:22328824}" "" "c.768G>T, p.V256V" "" "Germline" "-" "" "0" "" "" "g.94098794C>A" "" "VUS" ""
"0000123265" "0" "50" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "13, 121216, 0, 0.0001072" "{PMID:Roberts 2012:22328824}" "" "c.768G>T, p.V256V" "" "Germline" "-" "" "0" "" "" "g.94098794C>A" "" "VUS" ""
"0000123266" "0" "50" "1" "94546261" "94546261" "subst" "0.000648567" "01695" "ABCA4_000353" "g.94546261G>A" "65, 120922, 1, 0.0005375" "{PMID:Roberts 2012:22328824}" "" "c.872C>T, p.Pro291Leu" "" "Germline" "-" "" "0" "" "" "g.94080705G>A" "" "VUS" ""
"0000123267" "0" "90" "1" "94544185" "94544185" "subst" "8.12137E-6" "01695" "ABCA4_000177" "g.94544185C>T" "1, 121412, 0, 0.000008236" "{PMID:Roberts 2012:22328824}" "" "c.1317G>A, p.Trp439*" "" "Germline" "-" "" "0" "" "" "g.94078629C>T" "" "pathogenic" ""
"0000123268" "0" "50" "1" "94528815" "94528815" "subst" "0" "01695" "ABCA4_000300" "g.94528815G>T" "" "{PMID:Roberts 2012:22328824}" "" "c.1613C>A, p.Ala538Asp" "" "Germline" "-" "" "0" "" "" "g.94063259G>T" "" "VUS" ""
"0000123269" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "15, 121412, 0, 0.0001235" "{PMID:Roberts 2012:22328824}" "" "c.1622T>C, p.Leu541Pro" "" "Germline" "-" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000123270" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "6, 119038, 0, 0.0000504" "{PMID:Roberts 2012:22328824}" "" "c.1804C>T" "" "Germline" "-" "" "0" "" "" "g.94062710G>A" "" "pathogenic" ""
"0000123271" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "6, 119038, 0, 0.0000504" "{PMID:Roberts 2012:22328824}" "" "c.1804C>T" "" "Germline" "-" "" "0" "" "" "g.94062710G>A" "" "pathogenic" ""
"0000123272" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "6, 119038, 0, 0.0000504" "{PMID:Roberts 2012:22328824}" "" "c.1804C>T" "" "Germline" "-" "" "0" "" "" "g.94062710G>A" "" "pathogenic" ""
"0000123273" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "6, 119038, 0, 0.0000504" "{PMID:Roberts 2012:22328824}" "" "c.1804C>T" "" "Germline" "-" "" "0" "" "" "g.94062710G>A" "" "pathogenic" ""
"0000123274" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "6, 119038, 0, 0.0000504" "{PMID:Roberts 2012:22328824}" "" "c.1804C>T" "" "Germline" "-" "" "0" "" "" "g.94062710G>A" "" "pathogenic" ""
"0000123275" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "6, 119038, 0, 0.0000504" "{PMID:Roberts 2012:22328824}" "" "c.1804C>T" "" "Germline" "-" "" "0" "" "" "g.94062710G>A" "" "pathogenic" ""
"0000123276" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "6, 119038, 0, 0.0000504" "{PMID:Roberts 2012:22328824}" "" "c.1804C>T" "" "Germline" "-" "" "0" "" "" "g.94062710G>A" "" "pathogenic" ""
"0000123277" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "6, 119038, 0, 0.0000504" "{PMID:Roberts 2012:22328824}" "" "c.1804C>T" "" "Germline" "-" "" "0" "" "" "g.94062710G>A" "" "pathogenic" ""
"0000123278" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "6, 119038, 0, 0.0000504" "{PMID:Roberts 2012:22328824}" "" "c.1804C>T" "" "Germline" "-" "" "0" "" "" "g.94062710G>A" "" "pathogenic" ""
"0000123279" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "6, 119038, 0, 0.0000504" "{PMID:Roberts 2012:22328824}" "" "c.1804C>T" "" "Germline" "-" "" "0" "" "" "g.94062710G>A" "" "pathogenic" ""
"0000123280" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "6, 119038, 0, 0.0000504" "{PMID:Roberts 2012:22328824}" "" "c.1804C>T" "" "Germline" "-" "" "0" "" "" "g.94062710G>A" "" "pathogenic" ""
"0000123281" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "6, 119038, 0, 0.0000504" "{PMID:Roberts 2012:22328824}" "" "c.1804C>T" "" "Germline" "-" "" "0" "" "" "g.94062710G>A" "" "pathogenic" ""
"0000123282" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "6, 119038, 0, 0.0000504" "{PMID:Roberts 2012:22328824}" "" "c.1804C>T" "" "Germline" "-" "" "0" "" "" "g.94062710G>A" "" "pathogenic" ""
"0000123283" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "6, 119038, 0, 0.0000504" "{PMID:Roberts 2012:22328824}" "" "c.1804C>T" "" "Germline" "-" "" "0" "" "" "g.94062710G>A" "" "pathogenic" ""
"0000123284" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "6, 119038, 0, 0.0000504" "{PMID:Roberts 2012:22328824}" "" "c.1804C>T" "" "Germline" "-" "" "0" "" "" "g.94062710G>A" "" "pathogenic" ""
"0000123285" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "6, 119038, 0, 0.0000504" "{PMID:Roberts 2012:22328824}" "" "c.1804C>T" "" "Germline" "-" "" "0" "" "" "g.94062710G>A" "" "pathogenic" ""
"0000123286" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "6, 119038, 0, 0.0000504" "{PMID:Roberts 2012:22328824}" "" "c.1804C>T" "" "Germline" "-" "" "0" "" "" "g.94062710G>A" "" "pathogenic" ""
"0000123287" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "6, 119038, 0, 0.0000504" "{PMID:Roberts 2012:22328824}" "" "c.1804C>T" "" "Germline" "-" "" "0" "" "" "g.94062710G>A" "" "pathogenic" ""
"0000123288" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "6, 119038, 0, 0.0000504" "{PMID:Roberts 2012:22328824}" "" "c.1804C>T" "" "Germline" "-" "" "0" "" "" "g.94062710G>A" "" "pathogenic" ""
"0000123289" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "6, 119038, 0, 0.0000504" "{PMID:Roberts 2012:22328824}" "" "c.1804C>T" "" "Germline" "-" "" "0" "" "" "g.94062710G>A" "" "pathogenic" ""
"0000123290" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "6, 119038, 0, 0.0000504" "{PMID:Roberts 2012:22328824}" "" "c.1804C>T" "" "Germline" "-" "" "0" "" "" "g.94062710G>A" "" "pathogenic" ""
"0000123291" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "6, 119038, 0, 0.0000504" "{PMID:Roberts 2012:22328824}" "" "c.1804C>T" "" "Germline" "-" "" "0" "" "" "g.94062710G>A" "" "pathogenic" ""
"0000123292" "0" "50" "1" "94528143" "94528143" "subst" "0.00124448" "01695" "ABCA4_000076" "g.94528143C>T" "196, 121108, 1, 0.001618" "{PMID:Roberts 2012:22328824}" "" "c.1927G>A, p.Val643Met" "" "Germline" "-" "" "0" "" "" "g.94062587C>T" "" "VUS" ""
"0000123293" "0" "50" "1" "94526296" "94526296" "subst" "1.64555E-5" "01695" "ABCA4_000768" "g.94526296G>A" "1, 96614, 0, 0.00001035" "{PMID:Roberts 2012:22328824}" "" "c.1957C>T, p.Arg653Cys" "" "Germline" "-" "" "0" "" "" "g.94060740G>A" "" "VUS" ""
"0000123294" "0" "50" "1" "94526212" "94526212" "subst" "1.22012E-5" "01695" "ABCA4_000075" "g.94526212G>A" "3, 120836, 0, 0.00002483" "{PMID:Roberts 2012:22328824}" "" "c.2041C>T, p.Arg681*" "" "Germline" "-" "" "0" "" "" "g.94060656G>A" "" "VUS" ""
"0000123295" "0" "50" "1" "94526212" "94526212" "subst" "1.22012E-5" "01695" "ABCA4_000075" "g.94526212G>A" "3, 120836, 0, 0.00002483" "{PMID:Roberts 2012:22328824}" "" "c.2041C>T, p.Arg681*" "" "Germline" "-" "" "0" "" "" "g.94060656G>A" "" "VUS" ""
"0000123296" "0" "50" "1" "94526212" "94526212" "subst" "1.22012E-5" "01695" "ABCA4_000075" "g.94526212G>A" "3, 120836, 0, 0.00002483" "{PMID:Roberts 2012:22328824}" "" "c.2041C>T, p.Arg681*" "" "Germline" "-" "" "0" "" "" "g.94060656G>A" "" "VUS" ""
"0000123297" "0" "50" "1" "94522239" "94522239" "subst" "2.03305E-5" "01695" "ABCA4_000736" "g.94522239A>T" "1, 119332, 0, 0.00000838" "{PMID:Roberts 2012:22328824}" "" "c.2300T>A, p.Val767Asp" "" "Germline" "-" "" "0" "" "" "g.94056683A>T" "" "VUS" ""
"0000123298" "0" "50" "1" "94520686" "94520693" "del" "0" "01695" "ABCA4_000708" "g.94520686_94520693del" "" "{PMID:Roberts 2012:22328824}" "" "c.2564_2571delGGTACCTT, p.Trp855*" "" "Germline" "-" "" "0" "" "" "g.94055130_94055137del" "" "VUS" ""
"0000123299" "0" "50" "1" "94520686" "94520693" "del" "0" "01695" "ABCA4_000708" "g.94520686_94520693del" "" "{PMID:Roberts 2012:22328824}" "" "c.2564_2571delGGTACCTT, p.Trp855*" "" "Germline" "-" "" "0" "" "" "g.94055130_94055137del" "" "VUS" ""
"0000123300" "0" "50" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Roberts 2012:22328824}" "" "c.2588G>C, p.Gly863Ala" "" "Germline" "-" "rs76157638" "0" "" "" "g.94051698C>G" "" "VUS" ""
"0000123301" "0" "50" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Roberts 2012:22328824}" "" "c.2588G>C, p.Gly863Ala" "" "Germline" "-" "rs76157638" "0" "" "" "g.94051698C>G" "" "VUS" ""
"0000123302" "0" "50" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Roberts 2012:22328824}" "" "c.2588G>C, p.Gly863Ala" "" "Germline" "-" "rs76157638" "0" "" "" "g.94051698C>G" "" "VUS" ""
"0000123303" "0" "50" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Roberts 2012:22328824}" "" "c.2588G>C, p.Gly863Ala" "" "Germline" "-" "rs76157638" "0" "" "" "g.94051698C>G" "" "VUS" ""
"0000123304" "0" "50" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Roberts 2012:22328824}" "" "c.2588G>C, p.Gly863Ala" "" "Germline" "-" "rs76157638" "0" "" "" "g.94051698C>G" "" "VUS" ""
"0000123305" "0" "50" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Roberts 2012:22328824}" "" "c.2588G>C, p.Gly863Ala" "" "Germline" "-" "rs76157638" "0" "" "" "g.94051698C>G" "" "VUS" ""
"0000123306" "0" "50" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Roberts 2012:22328824}" "" "c.2588G>C, p.Gly863Ala" "" "Germline" "-" "rs76157638" "0" "" "" "g.94051698C>G" "" "VUS" ""
"0000123307" "0" "50" "1" "94512602" "94512602" "subst" "0.000369717" "01695" "ABCA4_000052" "g.94512602C>T" "59, 120896, 0, 0.000488" "{PMID:Roberts 2012:22328824}" "" "c.2791G>A, p.Val931Met" "" "Germline" "-" "" "0" "" "" "g.94047046C>T" "" "VUS" ""
"0000123308" "0" "50" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "21, 121302, 0, 0.0001731" "{PMID:Roberts 2012:22328824}" "" "c.2894A>G, p.Asn965Ser" "" "Germline" "-" "" "0" "" "" "g.94046943T>C" "" "VUS" ""
"0000123309" "0" "50" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "21, 121302, 0, 0.0001731" "{PMID:Roberts 2012:22328824}" "" "c.2894A>G, p.Asn965Ser" "" "Germline" "-" "" "0" "" "" "g.94046943T>C" "" "VUS" ""
"0000123310" "0" "50" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "21, 121302, 0, 0.0001731" "{PMID:Roberts 2012:22328824}" "" "c.2894A>G, p.Asn965Ser" "" "Germline" "-" "" "0" "" "" "g.94046943T>C" "" "VUS" ""
"0000123311" "0" "50" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "21, 121302, 0, 0.0001731" "{PMID:Roberts 2012:22328824}" "" "c.2894A>G, p.Asn965Ser" "" "Germline" "-" "" "0" "" "" "g.94046943T>C" "" "VUS" ""
"0000123312" "0" "50" "1" "94510248" "94510248" "subst" "0.000544123" "01695" "ABCA4_000107" "g.94510248C>G" "87, 121410, 0, 0.0007166" "{PMID:Roberts 2012:22328824}" "" "c.2971G>C, p.Gly991Arg" "" "Germline" "-" "" "0" "" "" "g.94044692C>G" "" "VUS" ""
"0000123313" "0" "50" "1" "94509026" "94509026" "subst" "4.06497E-5" "01695" "ABCA4_000660" "g.94509026G>A" "5, 120988, 0, 0.00004133" "{PMID:Roberts 2012:22328824}" "" "c.3056C>T, p.Thr1019Met" "" "Germline" "-" "" "0" "" "" "g.94043470G>A" "" "VUS" ""
"0000123314" "0" "50" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "173, 121304, 0, 0.001426" "{PMID:Roberts 2012:22328824}" "" "c.3113C>T, p.Ala1038Val" "" "Germline" "-" "" "0" "" "" "g.94043413G>A" "" "VUS" ""
"0000123315" "0" "50" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "173, 121304, 0, 0.001426" "{PMID:Roberts 2012:22328824}" "" "c.3113C>T, p.Ala1038Val" "" "Germline" "-" "" "0" "" "" "g.94043413G>A" "" "VUS" ""
"0000123316" "0" "50" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "173, 121304, 0, 0.001426" "{PMID:Roberts 2012:22328824}" "" "c.3113C>T, p.Ala1038Val" "" "Germline" "-" "" "0" "" "" "g.94043413G>A" "" "VUS" ""
"0000123317" "0" "50" "1" "94508386" "94508386" "subst" "1.62443E-5" "01695" "ABCA4_000642" "g.94508386C>T" "4, 121376, 0, 0.00003296" "{PMID:Roberts 2012:22328824}" "" "c.3259G>A, p.Glu1087Lys" "" "Germline" "-" "" "0" "" "" "g.94042830C>T" "" "VUS" ""
"0000123318" "0" "50" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "14, 121282, 0, 0.0001154" "{PMID:Roberts 2012:22328824}" "" "c.3322C>T, p.Arg1108Cys" "" "Germline" "-" "" "0" "" "" "g.94042767G>A" "" "VUS" ""
"0000123319" "0" "50" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "14, 121282, 0, 0.0001154" "{PMID:Roberts 2012:22328824}" "" "c.3322C>T, p.Arg1108Cys" "" "Germline" "-" "" "0" "" "" "g.94042767G>A" "" "VUS" ""
"0000123320" "0" "50" "1" "94505604" "94505604" "subst" "0.00645586" "01695" "ABCA4_000092" "g.94505604A>C" "879, 64452, 44, 0.01364" "{PMID:Roberts 2012:22328824}" "" "c.3602T>G, p.Leu1201Arg" "" "Germline" "-" "" "0" "" "" "g.94040048A>C" "" "VUS" ""
"0000123321" "0" "50" "1" "94497563" "94497563" "subst" "0.00492504" "01695" "ABCA4_000090" "g.94497563C>T" "757, 118654, 27, 0.00638" "{PMID:Roberts 2012:22328824}" "" "c.3899G>A, p.Arg1300Gln" "" "Germline" "-" "" "0" "" "" "g.94032007C>T" "" "VUS" ""
"0000123322" "0" "50" "1" "94505604" "94505604" "subst" "0.00645586" "01695" "ABCA4_000092" "g.94505604A>C" "879, 64452, 44, 0.01364" "{PMID:Roberts 2012:22328824}" "" "c.3602T>G, p.Leu1201Arg" "" "Germline" "-" "" "0" "" "" "g.94040048A>C" "" "VUS" ""
"0000123323" "0" "50" "1" "94497563" "94497563" "subst" "0.00492504" "01695" "ABCA4_000090" "g.94497563C>T" "757, 118654, 27, 0.00638" "{PMID:Roberts 2012:22328824}" "" "c.3899G>A, p.Arg1300Gln" "" "Germline" "-" "" "0" "" "" "g.94032007C>T" "" "VUS" ""
"0000123324" "0" "50" "1" "94505604" "94505604" "subst" "0.00645586" "01695" "ABCA4_000092" "g.94505604A>C" "879, 64452, 44, 0.01364" "{PMID:Roberts 2012:22328824}" "" "c.3602T>G, p.Leu1201Arg" "" "Germline" "-" "" "0" "" "" "g.94040048A>C" "" "VUS" ""
"0000123325" "0" "50" "1" "94497563" "94497563" "subst" "0.00492504" "01695" "ABCA4_000090" "g.94497563C>T" "757, 118654, 27, 0.00638" "{PMID:Roberts 2012:22328824}" "" "c.3899G>A, p.Arg1300Gln" "" "Germline" "-" "" "0" "" "" "g.94032007C>T" "" "VUS" ""
"0000123326" "0" "50" "1" "94505604" "94505604" "subst" "0.00645586" "01695" "ABCA4_000092" "g.94505604A>C" "879, 64452, 44, 0.01364" "{PMID:Roberts 2012:22328824}" "" "c.3602T>G, p.Leu1201Arg" "" "Germline" "-" "" "0" "" "" "g.94040048A>C" "" "VUS" ""
"0000123327" "0" "50" "1" "94497563" "94497563" "subst" "0.00492504" "01695" "ABCA4_000090" "g.94497563C>T" "757, 118654, 27, 0.00638" "{PMID:Roberts 2012:22328824}" "" "c.3899G>A, p.Arg1300Gln" "" "Germline" "-" "" "0" "" "" "g.94032007C>T" "" "VUS" ""
"0000123328" "0" "50" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "24, 119274, 0, 0.0002012" "{PMID:Roberts 2012:22328824}" "" "c.4139C>T, p.Pro1380Leu" "" "Germline" "-" "" "0" "" "" "g.94031110G>A" "" "VUS" ""
"0000123329" "0" "50" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "24, 119274, 0, 0.0002012" "{PMID:Roberts 2012:22328824}" "" "c.4139C>T, p.Pro1380Leu" "" "Germline" "-" "" "0" "" "" "g.94031110G>A" "" "VUS" ""
"0000123330" "0" "50" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "24, 119274, 0, 0.0002012" "{PMID:Roberts 2012:22328824}" "" "c.4139C>T, p.Pro1380Leu" "" "Germline" "-" "" "0" "" "" "g.94031110G>A" "" "VUS" ""
"0000123331" "0" "50" "1" "94496583" "94496583" "subst" "2.03092E-5" "01695" "ABCA4_000190" "g.94496583A>G" "1, 120898, 0, 0.000008271" "{PMID:Roberts 2012:22328824}" "" "c.4222T>C, p.Trp1408Arg" "" "Germline" "-" "" "0" "" "" "g.94031027A>G" "" "VUS" ""
"0000123332" "0" "50" "1" "94496547" "94496547" "subst" "1.21904E-5" "01695" "ABCA4_000560" "g.94496547C>T" "" "{PMID:Roberts 2012:22328824}" "" "c.4253+5G>A, -" "" "Germline" "-" "" "0" "" "" "g.94030991C>T" "" "VUS" ""
"0000123333" "0" "50" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "12, 60116, 0, 0.0001996" "{PMID:Roberts 2012:22328824}" "" "c.4469G>A, p.Cys1490Tyr" "" "Germline" "-" "" "0" "" "" "g.94029515C>T" "" "VUS" ""
"0000123334" "0" "50" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "12, 60116, 0, 0.0001996" "{PMID:Roberts 2012:22328824}" "" "c.4469G>A, p.Cys1490Tyr" "" "Germline" "-" "" "0" "" "" "g.94029515C>T" "" "VUS" ""
"0000123335" "0" "50" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "12, 60116, 0, 0.0001996" "{PMID:Roberts 2012:22328824}" "" "c.4469G>A, p.Cys1490Tyr" "" "Germline" "-" "" "0" "" "" "g.94029515C>T" "" "VUS" ""
"0000123336" "0" "50" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "12, 60116, 0, 0.0001996" "{PMID:Roberts 2012:22328824}" "" "c.4469G>A, p.Cys1490Tyr" "" "Germline" "-" "" "0" "" "" "g.94029515C>T" "" "VUS" ""
"0000123337" "0" "50" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "12, 60116, 0, 0.0001996" "{PMID:Roberts 2012:22328824}" "" "c.4469G>A, p.Cys1490Tyr" "" "Germline" "-" "" "0" "" "" "g.94029515C>T" "" "VUS" ""
"0000123338" "0" "50" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "12, 60116, 0, 0.0001996" "{PMID:Roberts 2012:22328824}" "" "c.4469G>A, p.Cys1490Tyr" "" "Germline" "-" "" "0" "" "" "g.94029515C>T" "" "VUS" ""
"0000123339" "0" "50" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "12, 60116, 0, 0.0001996" "{PMID:Roberts 2012:22328824}" "" "c.4469G>A, p.Cys1490Tyr" "" "Germline" "-" "" "0" "" "" "g.94029515C>T" "" "VUS" ""
"0000123340" "0" "50" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "12, 60116, 0, 0.0001996" "{PMID:Roberts 2012:22328824}" "" "c.4469G>A, p.Cys1490Tyr" "" "Germline" "-" "" "0" "" "" "g.94029515C>T" "" "VUS" ""
"0000123341" "0" "50" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "12, 60116, 0, 0.0001996" "{PMID:Roberts 2012:22328824}" "" "c.4469G>A, p.Cys1490Tyr" "" "Germline" "-" "" "0" "" "" "g.94029515C>T" "" "VUS" ""
"0000123342" "0" "50" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "12, 60116, 0, 0.0001996" "{PMID:Roberts 2012:22328824}" "" "c.4469G>A, p.Cys1490Tyr" "" "Germline" "-" "" "0" "" "" "g.94029515C>T" "" "VUS" ""
"0000123343" "0" "50" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "12, 60116, 0, 0.0001996" "{PMID:Roberts 2012:22328824}" "" "c.4469G>A, p.Cys1490Tyr" "" "Germline" "-" "" "0" "" "" "g.94029515C>T" "" "VUS" ""
"0000123344" "0" "50" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "12, 60116, 0, 0.0001996" "{PMID:Roberts 2012:22328824}" "" "c.4469G>A, p.Cys1490Tyr" "" "Germline" "-" "" "0" "" "" "g.94029515C>T" "" "VUS" ""
"0000123345" "0" "50" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "12, 60116, 0, 0.0001996" "{PMID:Roberts 2012:22328824}" "" "c.4469G>A, p.Cys1490Tyr" "" "Germline" "-" "" "0" "" "" "g.94029515C>T" "" "VUS" ""
"0000123346" "0" "50" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "12, 60116, 0, 0.0001996" "{PMID:Roberts 2012:22328824}" "" "c.4469G>A, p.Cys1490Tyr" "" "Germline" "-" "" "0" "" "" "g.94029515C>T" "" "VUS" ""
"0000123347" "0" "50" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "12, 60116, 0, 0.0001996" "{PMID:Roberts 2012:22328824}" "" "c.4469G>A, p.Cys1490Tyr" "" "Germline" "-" "" "0" "" "" "g.94029515C>T" "" "VUS" ""
"0000123348" "0" "50" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "12, 60116, 0, 0.0001996" "{PMID:Roberts 2012:22328824}" "" "c.4469G>A, p.Cys1490Tyr" "" "Germline" "-" "" "0" "" "" "g.94029515C>T" "" "VUS" ""
"0000123349" "0" "50" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "12, 60116, 0, 0.0001996" "{PMID:Roberts 2012:22328824}" "" "c.4469G>A, p.Cys1490Tyr" "" "Germline" "-" "" "0" "" "" "g.94029515C>T" "" "VUS" ""
"0000123350" "0" "50" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "12, 60116, 0, 0.0001996" "{PMID:Roberts 2012:22328824}" "" "c.4469G>A, p.Cys1490Tyr" "" "Germline" "-" "" "0" "" "" "g.94029515C>T" "" "VUS" ""
"0000123351" "0" "50" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "12, 60116, 0, 0.0001996" "{PMID:Roberts 2012:22328824}" "" "c.4469G>A, p.Cys1490Tyr" "" "Germline" "-" "" "0" "" "" "g.94029515C>T" "" "VUS" ""
"0000123352" "0" "50" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "12, 60116, 0, 0.0001996" "{PMID:Roberts 2012:22328824}" "" "c.4469G>A, p.Cys1490Tyr" "" "Germline" "-" "" "0" "" "" "g.94029515C>T" "" "VUS" ""
"0000123353" "0" "50" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "12, 60116, 0, 0.0001996" "{PMID:Roberts 2012:22328824}" "" "c.4469G>A, p.Cys1490Tyr" "" "Germline" "-" "" "0" "" "" "g.94029515C>T" "" "VUS" ""
"0000123354" "0" "50" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "12, 60116, 0, 0.0001996" "{PMID:Roberts 2012:22328824}" "" "c.4469G>A, p.Cys1490Tyr" "" "Germline" "-" "" "0" "" "" "g.94029515C>T" "" "VUS" ""
"0000123355" "0" "50" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "12, 60116, 0, 0.0001996" "{PMID:Roberts 2012:22328824}" "" "c.4469G>A, p.Cys1490Tyr" "" "Germline" "-" "" "0" "" "" "g.94029515C>T" "" "VUS" ""
"0000123356" "0" "50" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "12, 60116, 0, 0.0001996" "{PMID:Roberts 2012:22328824}" "" "c.4469G>A, p.Cys1490Tyr" "" "Germline" "-" "" "0" "" "" "g.94029515C>T" "" "VUS" ""
"0000123357" "0" "50" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "12, 60116, 0, 0.0001996" "{PMID:Roberts 2012:22328824}" "" "c.4469G>A, p.Cys1490Tyr" "" "Germline" "-" "" "0" "" "" "g.94029515C>T" "" "VUS" ""
"0000123358" "0" "50" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "12, 60116, 0, 0.0001996" "{PMID:Roberts 2012:22328824}" "" "c.4469G>A, p.Cys1490Tyr" "" "Germline" "-" "" "0" "" "" "g.94029515C>T" "" "VUS" ""
"0000123359" "0" "50" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "12, 60116, 0, 0.0001996" "{PMID:Roberts 2012:22328824}" "" "c.4469G>A, p.Cys1490Tyr" "" "Germline" "-" "" "0" "" "" "g.94029515C>T" "" "VUS" ""
"0000123360" "0" "50" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "12, 60116, 0, 0.0001996" "{PMID:Roberts 2012:22328824}" "" "c.4469G>A, p.Cys1490Tyr" "" "Germline" "-" "" "0" "" "" "g.94029515C>T" "" "VUS" ""
"0000123361" "0" "50" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "12, 60116, 0, 0.0001996" "{PMID:Roberts 2012:22328824}" "" "c.4469G>A, p.Cys1490Tyr" "" "Germline" "-" "" "0" "" "" "g.94029515C>T" "" "VUS" ""
"0000123362" "0" "50" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "12, 60116, 0, 0.0001996" "{PMID:Roberts 2012:22328824}" "" "c.4469G>A, p.Cys1490Tyr" "" "Germline" "-" "" "0" "" "" "g.94029515C>T" "" "VUS" ""
"0000123363" "0" "50" "1" "94495009" "94495009" "dup" "0" "01695" "ABCA4_000087" "g.94495009dup" "" "{PMID:Roberts 2012:22328824}" "" "c.4535insC, p.Gln1513Profs*42" "" "Germline" "-" "" "0" "" "" "g.94029453dup" "" "VUS" ""
"0000123364" "0" "50" "1" "94487251" "94487251" "subst" "2.85679E-5" "01695" "ABCA4_000490" "g.94487251G>T" "3, 113672, 0, 0.00002639" "{PMID:Roberts 2012:22328824}" "" "c.4793C>A, p.Ala1598Asp" "" "Germline" "-" "" "0" "" "" "g.94021695G>T" "" "VUS" ""
"0000123365" "0" "50" "1" "94486896" "94486896" "subst" "3.65562E-5" "01695" "ABCA4_000085" "g.94486896G>A" "1, 121394, 0, 0.000008238" "{PMID:Roberts 2012:22328824}" "" "c.4918C>T, p.Arg1640Trp" "" "Germline" "-" "" "0" "" "" "g.94021340G>A" "" "VUS" ""
"0000123366" "0" "50" "1" "94486896" "94486896" "subst" "3.65562E-5" "01695" "ABCA4_000085" "g.94486896G>A" "1, 121394, 0, 0.000008238" "{PMID:Roberts 2012:22328824}" "" "c.4918C>T, p.Arg1640Trp" "" "Germline" "-" "" "0" "" "" "g.94021340G>A" "" "VUS" ""
"0000123367" "0" "50" "1" "94486888" "94486888" "subst" "3.65548E-5" "01695" "ABCA4_000137" "g.94486888G>C" "4, 121404, 0, 0.00003295" "{PMID:Roberts 2012:22328824}" "" "c.4926C>G, p.Ser1642Arg" "" "Germline" "-" "" "0" "" "" "g.94021332G>C" "" "VUS" ""
"0000123368" "0" "50" "1" "94485279" "94485293" "del" "0" "01695" "ABCA4_000476" "g.94485279_94485293del" "" "{PMID:Roberts 2012:22328824}" "" "c.5041del15, p.V1681_C1685del" "" "Germline" "-" "" "0" "" "" "g.94019723_94019737del" "" "VUS" ""
"0000123369" "0" "50" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Roberts 2012:22328824}" "" "c.5461–10T>C, -" "" "Germline" "-" "" "0" "" "" "g.94011395A>G" "" "VUS" ""
"0000123370" "0" "50" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Roberts 2012:22328824}" "" "c.5461–10T>C, -" "" "Germline" "-" "" "0" "" "" "g.94011395A>G" "" "VUS" ""
"0000123371" "0" "50" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Roberts 2012:22328824}" "" "c.5461–10T>C, -" "" "Germline" "-" "" "0" "" "" "g.94011395A>G" "" "VUS" ""
"0000123372" "0" "50" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Roberts 2012:22328824}" "" "c.5461–10T>C, -" "" "Germline" "-" "" "0" "" "" "g.94011395A>G" "" "VUS" ""
"0000123373" "0" "50" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Roberts 2012:22328824}" "" "c.5461–10T>C, -" "" "Germline" "-" "" "0" "" "" "g.94011395A>G" "" "VUS" ""
"0000123374" "0" "50" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Roberts 2012:22328824}" "" "c.5461–10T>C, -" "" "Germline" "-" "" "0" "" "" "g.94011395A>G" "" "VUS" ""
"0000123375" "0" "50" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Roberts 2012:22328824}" "" "c.5461–10T>C, -" "" "Germline" "-" "" "0" "" "" "g.94011395A>G" "" "VUS" ""
"0000123376" "0" "50" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Roberts 2012:22328824}" "" "c.5461–10T>C, -" "" "Germline" "-" "" "0" "" "" "g.94011395A>G" "" "VUS" ""
"0000123377" "0" "50" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Roberts 2012:22328824}" "" "c.5461–10T>C, -" "" "Germline" "-" "" "0" "" "" "g.94011395A>G" "" "VUS" ""
"0000123378" "0" "50" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Roberts 2012:22328824}" "" "c.5461–10T>C, -" "" "Germline" "-" "" "0" "" "" "g.94011395A>G" "" "VUS" ""
"0000123379" "0" "50" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Roberts 2012:22328824}" "" "c.5461–10T>C, -" "" "Germline" "-" "" "0" "" "" "g.94011395A>G" "" "VUS" ""
"0000123380" "0" "50" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Roberts 2012:22328824}" "" "c.5461–10T>C, -" "" "Germline" "-" "" "0" "" "" "g.94011395A>G" "" "VUS" ""
"0000123381" "0" "50" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Roberts 2012:22328824}" "" "c.5461–10T>C, -" "" "Germline" "-" "" "0" "" "" "g.94011395A>G" "" "VUS" ""
"0000123382" "0" "50" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Roberts 2012:22328824}" "" "c.5461–10T>C, -" "" "Germline" "-" "" "0" "" "" "g.94011395A>G" "" "VUS" ""
"0000123383" "0" "50" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Roberts 2012:22328824}" "" "c.5461–10T>C, -" "" "Germline" "-" "" "0" "" "" "g.94011395A>G" "" "VUS" ""
"0000123384" "0" "50" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Roberts 2012:22328824}" "" "c.5461–10T>C, -" "" "Germline" "-" "" "0" "" "" "g.94011395A>G" "" "VUS" ""
"0000123385" "0" "50" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Roberts 2012:22328824}" "" "c.5461–10T>C, -" "" "Germline" "-" "" "0" "" "" "g.94011395A>G" "" "VUS" ""
"0000123386" "0" "50" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Roberts 2012:22328824}" "" "c.5461–10T>C, -" "" "Germline" "-" "" "0" "" "" "g.94011395A>G" "" "VUS" ""
"0000123387" "0" "50" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Roberts 2012:22328824}" "" "c.5461–10T>C, -" "" "Germline" "-" "" "0" "" "" "g.94011395A>G" "" "VUS" ""
"0000123388" "0" "50" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Roberts 2012:22328824}" "" "c.5461–10T>C, -" "" "Germline" "-" "" "0" "" "" "g.94011395A>G" "" "VUS" ""
"0000123389" "0" "50" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Roberts 2012:22328824}" "" "c.5461–10T>C, -" "" "Germline" "-" "" "0" "" "" "g.94011395A>G" "" "VUS" ""
"0000123390" "0" "50" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Roberts 2012:22328824}" "" "c.5461–10T>C, -" "" "Germline" "-" "" "0" "" "" "g.94011395A>G" "" "VUS" ""
"0000123391" "0" "50" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Roberts 2012:22328824}" "" "c.5461–10T>C, -" "" "Germline" "-" "" "0" "" "" "g.94011395A>G" "" "VUS" ""
"0000123392" "0" "50" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Roberts 2012:22328824}" "" "c.5461–10T>C, -" "" "Germline" "-" "" "0" "" "" "g.94011395A>G" "" "VUS" ""
"0000123393" "0" "50" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "42, 120772, 0, 0.0003478" "{PMID:Roberts 2012:22328824}" "" "c.5714+5G>A, -" "" "Germline" "-" "" "0" "" "" "g.94010795C>T" "" "VUS" ""
"0000123394" "0" "50" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "42, 120772, 0, 0.0003478" "{PMID:Roberts 2012:22328824}" "" "c.5714+5G>A, -" "" "Germline" "-" "" "0" "" "" "g.94010795C>T" "" "VUS" ""
"0000123395" "0" "50" "1" "94473846" "94473846" "subst" "0.0315833" "01695" "ABCA4_000001" "g.94473846G>A" "3709, 121372, 57, 0.03056" "{PMID:Roberts 2012:22328824}" "" "c.5843C>T, p.Pro1948Leu" "" "Germline" "-" "" "0" "" "" "g.94008290G>A" "" "VUS" ""
"0000123396" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Roberts 2012:22328824}" "" "c.5882G>A, p.Gly1961Glu" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000123397" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Roberts 2012:22328824}" "" "c.5882G>A, p.Gly1961Glu" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000123398" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Roberts 2012:22328824}" "" "c.5882G>A, p.Gly1961Glu" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000123399" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Roberts 2012:22328824}" "" "c.5882G>A, p.Gly1961Glu" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000123400" "0" "50" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "26, 121404, 0, 0.0002142" "{PMID:Roberts 2012:22328824}" "" "c.6079C>T, p.Leu2027Phe" "" "Germline" "-" "" "0" "" "" "g.94005509G>A" "" "VUS" ""
"0000123401" "0" "50" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "26, 121404, 0, 0.0002142" "{PMID:Roberts 2012:22328824}" "" "c.6079C>T, p.Leu2027Phe" "" "Germline" "-" "" "0" "" "" "g.94005509G>A" "" "VUS" ""
"0000123402" "0" "50" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "26, 121404, 0, 0.0002142" "{PMID:Roberts 2012:22328824}" "" "c.6079C>T, p.Leu2027Phe" "" "Germline" "-" "" "0" "" "" "g.94005509G>A" "" "VUS" ""
"0000123403" "0" "50" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "26, 121404, 0, 0.0002142" "{PMID:Roberts 2012:22328824}" "" "c.6079C>T, p.Leu2027Phe" "" "Germline" "-" "" "0" "" "" "g.94005509G>A" "" "VUS" ""
"0000123404" "0" "50" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "26, 121404, 0, 0.0002142" "{PMID:Roberts 2012:22328824}" "" "c.6079C>T, p.Leu2027Phe" "" "Germline" "-" "" "0" "" "" "g.94005509G>A" "" "VUS" ""
"0000123405" "0" "50" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "26, 121404, 0, 0.0002142" "{PMID:Roberts 2012:22328824}" "" "c.6079C>T, p.Leu2027Phe" "" "Germline" "-" "" "0" "" "" "g.94005509G>A" "" "VUS" ""
"0000123406" "0" "50" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "26, 121404, 0, 0.0002142" "{PMID:Roberts 2012:22328824}" "" "c.6079C>T, p.Leu2027Phe" "" "Germline" "-" "" "0" "" "" "g.94005509G>A" "" "VUS" ""
"0000123407" "0" "50" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "26, 121404, 0, 0.0002142" "{PMID:Roberts 2012:22328824}" "" "c.6079C>T, p.Leu2027Phe" "" "Germline" "-" "" "0" "" "" "g.94005509G>A" "" "VUS" ""
"0000123408" "0" "50" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "26, 121404, 0, 0.0002142" "{PMID:Roberts 2012:22328824}" "" "c.6079C>T, p.Leu2027Phe" "" "Germline" "-" "" "0" "" "" "g.94005509G>A" "" "VUS" ""
"0000123409" "0" "50" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "26, 121404, 0, 0.0002142" "{PMID:Roberts 2012:22328824}" "" "c.6079C>T, p.Leu2027Phe" "" "Germline" "-" "" "0" "" "" "g.94005509G>A" "" "VUS" ""
"0000123410" "0" "50" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "26, 121404, 0, 0.0002142" "{PMID:Roberts 2012:22328824}" "" "c.6079C>T, p.Leu2027Phe" "" "Germline" "-" "" "0" "" "" "g.94005509G>A" "" "VUS" ""
"0000123411" "0" "50" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "26, 121404, 0, 0.0002142" "{PMID:Roberts 2012:22328824}" "" "c.6079C>T, p.Leu2027Phe" "" "Germline" "-" "" "0" "" "" "g.94005509G>A" "" "VUS" ""
"0000123412" "0" "50" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "26, 121404, 0, 0.0002142" "{PMID:Roberts 2012:22328824}" "" "c.6079C>T, p.Leu2027Phe" "" "Germline" "-" "" "0" "" "" "g.94005509G>A" "" "VUS" ""
"0000123413" "0" "50" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "26, 121404, 0, 0.0002142" "{PMID:Roberts 2012:22328824}" "" "c.6079C>T, p.Leu2027Phe" "" "Germline" "-" "" "0" "" "" "g.94005509G>A" "" "VUS" ""
"0000123414" "0" "50" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "26, 121404, 0, 0.0002142" "{PMID:Roberts 2012:22328824}" "" "c.6079C>T, p.Leu2027Phe" "" "Germline" "-" "" "0" "" "" "g.94005509G>A" "" "VUS" ""
"0000123415" "0" "50" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "26, 121404, 0, 0.0002142" "{PMID:Roberts 2012:22328824}" "" "c.6079C>T, p.Leu2027Phe" "" "Germline" "-" "" "0" "" "" "g.94005509G>A" "" "VUS" ""
"0000123416" "0" "50" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "26, 121404, 0, 0.0002142" "{PMID:Roberts 2012:22328824}" "" "c.6079C>T, p.Leu2027Phe" "" "Germline" "-" "" "0" "" "" "g.94005509G>A" "" "VUS" ""
"0000123417" "0" "50" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "26, 121404, 0, 0.0002142" "{PMID:Roberts 2012:22328824}" "" "c.6079C>T, p.Leu2027Phe" "" "Germline" "-" "" "0" "" "" "g.94005509G>A" "" "VUS" ""
"0000123418" "0" "50" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "26, 121404, 0, 0.0002142" "{PMID:Roberts 2012:22328824}" "" "c.6079C>T, p.Leu2027Phe" "" "Germline" "-" "" "0" "" "" "g.94005509G>A" "" "VUS" ""
"0000123419" "0" "50" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "26, 121404, 0, 0.0002142" "{PMID:Roberts 2012:22328824}" "" "c.6079C>T, p.Leu2027Phe" "" "Germline" "-" "" "0" "" "" "g.94005509G>A" "" "VUS" ""
"0000123420" "0" "50" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "26, 121404, 0, 0.0002142" "{PMID:Roberts 2012:22328824}" "" "c.6079C>T, p.Leu2027Phe" "" "Germline" "-" "" "0" "" "" "g.94005509G>A" "" "VUS" ""
"0000123421" "0" "50" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "26, 121404, 0, 0.0002142" "{PMID:Roberts 2012:22328824}" "" "c.6079C>T, p.Leu2027Phe" "" "Germline" "-" "" "0" "" "" "g.94005509G>A" "" "VUS" ""
"0000123422" "0" "50" "1" "94471055" "94471055" "subst" "0.00035346" "01695" "ABCA4_000029" "g.94471055C>T" "47, 121404, 1, 0.0003871" "{PMID:Roberts 2012:22328824}" "" "c.6089G>A, p.Arg2030Gln" "" "Germline" "-" "" "0" "" "" "g.94005499C>T" "" "VUS" ""
"0000123423" "0" "50" "1" "94471055" "94471055" "subst" "0.00035346" "01695" "ABCA4_000029" "g.94471055C>T" "47, 121404, 1, 0.0003871" "{PMID:Roberts 2012:22328824}" "" "c.6089G>A, p.Arg2030Gln" "" "Germline" "-" "" "0" "" "" "g.94005499C>T" "" "VUS" ""
"0000123424" "0" "50" "1" "94471055" "94471055" "subst" "0.00035346" "01695" "ABCA4_000029" "g.94471055C>T" "47, 121404, 1, 0.0003871" "{PMID:Roberts 2012:22328824}" "" "c.6089G>A, p.Arg2030Gln" "" "Germline" "-" "" "0" "" "" "g.94005499C>T" "" "VUS" ""
"0000123425" "0" "50" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "227, 121250, 3, 0.001872" "{PMID:Roberts 2012:22328824}" "" "c.6320G>A, p.Arg2107His" "" "Germline" "-" "" "0" "" "" "g.94001068C>T" "" "VUS" ""
"0000123426" "0" "50" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "227, 121250, 3, 0.001872" "{PMID:Roberts 2012:22328824}" "" "c.6320G>A, p.Arg2107His" "" "Germline" "-" "" "0" "" "" "g.94001068C>T" "" "VUS" ""
"0000123427" "0" "50" "1" "94466422" "94466422" "subst" "2.43651E-5" "01695" "ABCA4_000817" "g.94466422C>T" "3, 121398, 0, 0.00002471" "{PMID:Roberts 2012:22328824}" "" "c.6449G>A, p.Cys2150Tyr" "" "Germline" "-" "" "0" "" "" "g.94000866C>T" "" "VUS" ""
"0000123428" "0" "50" "1" "94463488" "94463488" "subst" "5.2803E-5" "01695" "ABCA4_000802" "g.94463488G>A" "6, 121316, 0, 0.00004946" "{PMID:Roberts 2012:22328824}" "" "c.6658C>T, p.Gln2220*" "" "Germline" "-" "" "0" "" "" "g.93997932G>A" "" "VUS" ""
"0000123429" "0" "50" "1" "94577010" "94577010" "subst" "1.22004E-5" "01695" "ABCA4_000224" "g.94577010T>C" "3, 119734, 0, 0.00002506" "{PMID:Maia-Lopes 2008:18326749}" "" "N96D" "" "Germline" "-" "" "0" "" "" "g.94111454T>C" "" "VUS" ""
"0000123430" "0" "50" "1" "94577010" "94577010" "subst" "1.22004E-5" "01695" "ABCA4_000224" "g.94577010T>C" "3, 119734, 0, 0.00002506" "{PMID:Maia-Lopes 2008:18326749}" "" "N96D" "" "Germline" "-" "" "0" "" "" "g.94111454T>C" "" "VUS" ""
"0000123431" "0" "50" "1" "94577010" "94577010" "subst" "1.22004E-5" "01695" "ABCA4_000224" "g.94577010T>C" "3, 119734, 0, 0.00002506" "{PMID:Maia-Lopes 2008:18326749}" "" "N96D" "" "Germline" "-" "" "0" "" "" "g.94111454T>C" "" "VUS" ""
"0000123432" "0" "50" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "42, 120772, 0, 0.0003478" "{PMID:Maia-Lopes 2008:18326749}" "" "IVS40+5G>A" "" "Germline" "-" "" "0" "" "" "g.94010795C>T" "" "VUS" ""
"0000123433" "0" "50" "1" "94508435" "94508436" "dup" "0" "01695" "ABCA4_000998" "g.94508435_94508436dup" "" "{PMID:Maia-Lopes 2008:18326749}" "" "3211insGT" "" "Germline" "-" "" "0" "" "" "g.94042879_94042880dup" "" "VUS" ""
"0000123434" "1" "70" "1" "94586601" "94586601" "subst" "8.12156E-6" "01695" "ABCA4_000264" "g.94586601T>C" "" "{PMID:Maia-Lopes 2008:18326749}" "" "M1V;R2030Q" "" "Germline" "-" "" "0" "" "" "g.94121045T>C" "" "likely pathogenic" ""
"0000123435" "1" "50" "1" "94471055" "94471055" "subst" "0.00035346" "01695" "ABCA4_000029" "g.94471055C>T" "" "{PMID:Maia-Lopes 2008:18326749}" "" "M1V;R2030Q" "" "Germline" "-" "" "0" "" "" "g.94005499C>T" "" "VUS" ""
"0000123436" "0" "50" "1" "94546265" "94546265" "subst" "2.04063E-5" "01695" "ABCA4_000355" "g.94546265G>A" "4, 120876, 0, 0.00003309" "{PMID:Maia-Lopes 2008:18326749}" "" "R290W" "" "Germline" "-" "" "0" "" "" "g.94080709G>A" "" "VUS" ""
"0000123437" "0" "50" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "26, 121404, 0, 0.0002142" "{PMID:Maia-Lopes 2008:18326749}" "" "L2027F" "" "Germline" "-" "" "0" "" "" "g.94005509G>A" "" "VUS" ""
"0000123438" "0" "50" "1" "94467548" "94467548" "subst" "0.00295661" "01695" "ABCA4_000788" "g.94467548C>G" "334, 121350, 0, 0.002752" "{PMID:Maia-Lopes 2008:18326749}" "" "V2050L" "" "Germline" "-" "" "0" "" "" "g.94001992C>G" "" "VUS" ""
"0000123439" "0" "70" "1" "94586600" "94586600" "subst" "0" "01695" "ABCA4_000263" "g.94586600A>G" "" "{PMID:Maia-Lopes 2008:18326749}" "" "M1T" "" "Germline" "-" "" "0" "" "" "g.94121044A>G" "" "likely pathogenic" ""
"0000123440" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Maia-Lopes 2008:18326749}" "" "G1961E" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000123441" "0" "50" "1" "94586570" "94586570" "subst" "4.06101E-6" "01695" "ABCA4_000154" "g.94586570A>G" "1, 121404, 0, 0.000008237" "{PMID:Maia-Lopes 2008:18326749}" "" "L11P" "" "Germline" "-" "" "0" "" "" "g.94121014A>G" "" "VUS" ""
"0000123442" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Maia-Lopes 2008:18326749}" "" "G1961E" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000123443" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Maia-Lopes 2008:18326749}" "" "G1961E" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000123444" "0" "50" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "13, 121216, 0, 0.0001072" "{PMID:Westeneng-van Haaften 2012:22449572}" "" "768G>T" "" "Germline" "-" "" "0" "" "" "g.94098794C>A" "" "VUS" ""
"0000123445" "0" "30" "1" "94497588" "94497588" "subst" "4.153E-6" "01695" "ABCA4_000049" "g.94497588G>A" "1, 117696, 0, 0.000008496" "{PMID:Westeneng-van Haaften 2012:22449572}, {PMID:van Huet 2014:25324290}" "" "3874C>T" "" "Germline" "-" "" "0" "" "" "g.94032032G>A" "" "likely benign" ""
"0000123446" "0" "90" "1" "94528142" "94528142" "subst" "0.00153303" "01695" "ABCA4_000125" "g.94528142A>C" "163, 121098, 1, 0.001346" "{PMID:Westeneng-van Haaften 2012:22449572}, {PMID:van Huet 2014:25324290}" "" "1928T>G" "" "Germline" "?" "" "0" "" "" "g.94062586A>C" "" "pathogenic" ""
"0000123447" "0" "90" "1" "94467460" "94467461" "del" "0" "01695" "ABCA4_000778" "g.94467460_94467461del" "" "{PMID:Westeneng-van Haaften 2012:22449572}" "" "6238_6239delTC" "" "Germline" "-" "" "0" "" "" "g.94001904_94001905del" "" "pathogenic" ""
"0000123448" "1" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Westeneng-van Haaften 2012:22449572}" "" "2588G>C; 656G>T" "" "Germline" "?" "rs76157638" "0" "" "" "g.94051698C>G" "" "pathogenic" ""
"0000123449" "1" "50" "1" "94564462" "94564462" "subst" "4.06775E-5" "01695" "ABCA4_000380" "g.94564462C>G" "" "{PMID:Westeneng-van Haaften 2012:22449572}" "" "2588G>C; 656G>T" "" "Germline" "?" "" "0" "" "" "g.94098906C>G" "" "VUS" ""
"0000123450" "0" "70" "1" "94528265" "94528265" "subst" "2.44212E-5" "01695" "ABCA4_000284" "g.94528265C>T" "2, 119074, 0, 0.0000168" "{PMID:Westeneng-van Haaften 2012:22449572}, {PMID:van Huet 2014:25324290}" "" "1805G>A" "" "Germline" "-" "" "0" "" "" "g.94062709C>T" "" "likely pathogenic" ""
"0000123451" "0" "70" "1" "94495078" "94495078" "subst" "8.37044E-6" "01695" "ABCA4_000042" "g.94495078A>G" "1, 70400, 0, 0.0000142" "{PMID:Westeneng-van Haaften 2012:22449572}, {PMID:van Huet 2014:25324290}" "" "4462T>C" "" "Germline" "?" "" "0" "" "" "g.94029522A>G" "" "likely pathogenic" ""
"0000123452" "0" "50" "1" "94497588" "94497588" "subst" "4.153E-6" "01695" "ABCA4_000049" "g.94497588G>A" "1, 117696, 0, 0.000008496" "{PMID:Westeneng-van Haaften 2012:22449572}, {PMID:van Huet 2014:25324290}" "" "3874C>T" "" "Germline" "-" "" "0" "" "" "g.94032032G>A" "" "VUS" ""
"0000123453" "0" "50" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "13, 121216, 0, 0.0001072" "{PMID:Westeneng-van Haaften 2012:22449572}" "" "768G>T" "" "Germline" "-" "" "0" "" "" "g.94098794C>A" "" "VUS" ""
"0000123454" "0" "50" "1" "94495078" "94495078" "subst" "8.37044E-6" "01695" "ABCA4_000042" "g.94495078A>G" "1, 70400, 0, 0.0000142" "{PMID:Westeneng-van Haaften 2012:22449572}" "" "4462T>C" "" "Germline" "-" "" "0" "" "" "g.94029522A>G" "" "VUS" ""
"0000123455" "0" "30" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "13, 121216, 0, 0.0001072" "{PMID:Westeneng-van Haaften 2012:22449572}, {PMID:van Huet 2014:25324290}" "" "768G>T" "" "Germline" "-" "" "0" "" "" "g.94098794C>A" "" "likely benign" ""
"0000123456" "0" "50" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "173, 121304, 0, 0.001426" "{PMID:Westeneng-van Haaften 2012:22449572}, {PMID:van Huet 2014:25324290}" "" "3113C>T" "" "Germline" "?" "" "0" "" "" "g.94043413G>A" "" "VUS" ""
"0000123457" "0" "50" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "13, 121216, 0, 0.0001072" "{PMID:Westeneng-van Haaften 2012:22449572}" "" "768G>T" "" "Germline" "-" "" "0" "" "" "g.94098794C>A" "" "VUS" ""
"0000123458" "0" "50" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "13, 121216, 0, 0.0001072" "{PMID:Westeneng-van Haaften 2012:22449572}" "" "768G>T" "" "Germline" "-" "" "0" "" "" "g.94098794C>A" "" "VUS" ""
"0000123459" "0" "30" "1" "94497588" "94497588" "subst" "4.153E-6" "01695" "ABCA4_000049" "g.94497588G>A" "1, 117696, 0, 0.000008496" "{PMID:Westeneng-van Haaften 2012:22449572}, {PMID:van Huet 2014:25324290}" "" "3874C>T" "" "Germline" "-" "" "0" "" "" "g.94032032G>A" "" "likely benign" ""
"0000123460" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "173, 121304, 0, 0.001426" "{PMID:Westeneng-van Haaften 2012:22449572}, {PMID:van Huet 2014:25324290}" "" "3113C>T" "" "Germline" "?" "" "0" "" "" "g.94043413G>A" "" "pathogenic" ""
"0000123461" "0" "70" "1" "94495177" "94495177" "subst" "1.22342E-5" "01695" "ABCA4_000023" "g.94495177A>G" "2, 109474, 0, 0.00001827" "{PMID:Westeneng-van Haaften 2012:22449572}" "" "4363T>C" "" "Germline" "-" "" "0" "" "" "g.94029621A>G" "" "likely pathogenic" ""
"0000123462" "0" "70" "1" "94495021" "94495021" "subst" "0" "01695" "ABCA4_000537" "g.94495021C>A" "" "{PMID:Westeneng-van Haaften 2012:22449572}" "" "4519G>T" "" "Germline" "?" "" "0" "" "" "g.94029465C>A" "" "likely pathogenic" ""
"0000123463" "0" "50" "1" "94495177" "94495177" "subst" "1.22342E-5" "01695" "ABCA4_000023" "g.94495177A>G" "2, 109474, 0, 0.00001827" "{PMID:Westeneng-van Haaften 2012:22449572}, {PMID:van Huet 2014:25324290}" "" "4363T>C" "" "Germline" "-" "" "0" "" "" "g.94029621A>G" "" "VUS" ""
"0000123464" "0" "50" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "13, 121216, 0, 0.0001072" "{PMID:Westeneng-van Haaften 2012:22449572}" "" "768G>T" "" "Germline" "-" "" "0" "" "" "g.94098794C>A" "" "VUS" ""
"0000123465" "0" "50" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "13, 121216, 0, 0.0001072" "{PMID:Westeneng-van Haaften 2012:22449572}" "" "768G>T" "" "Germline" "-" "" "0" "" "" "g.94098794C>A" "" "VUS" ""
"0000123466" "0" "70" "1" "94577132" "94577132" "subst" "0" "01695" "ABCA4_000239" "g.94577132T>C" "" "{PMID:Westeneng-van Haaften 2012:22449572}" "" "164A>G" "" "Germline" "-" "" "0" "" "" "g.94111576T>C" "" "likely pathogenic" ""
"0000123467" "0" "70" "1" "94471025" "94471025" "subst" "0.00031698" "01695" "ABCA4_000096" "g.94471025C>T" "41, 121396, 0, 0.0003377" "{PMID:Westeneng-van Haaften 2012:22449572}" "" "6119G>A" "On its own not significantely found more often in published STGD compared to ExAC (p-value 0.21). However, together with other non-significant variants published related to STGD, they are significantly more often in STGD patients (p-value <0.01)." "Germline" "?" "" "0" "" "" "g.94005469C>T" "" "likely pathogenic" ""
"0000123468" "0" "50" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "13, 121216, 0, 0.0001072" "{PMID:Westeneng-van Haaften 2012:22449572}" "" "768G>T" "" "Germline" "-" "" "0" "" "" "g.94098794C>A" "" "VUS" ""
"0000123469" "0" "50" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "13, 121216, 0, 0.0001072" "{PMID:Westeneng-van Haaften 2012:22449572}" "" "768G>T" "" "Germline" "-" "" "0" "" "" "g.94098794C>A" "" "VUS" ""
"0000123470" "0" "50" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Westeneng-van Haaften 2012:22449572}, {PMID:van Huet 2014:25324290}" "" "5461-10T>C" "" "Germline" "-" "" "0" "" "" "g.94011395A>G" "" "VUS" ""
"0000123471" "0" "70" "1" "94476377" "94476377" "subst" "0.00160473" "01695" "ABCA4_000411" "g.94476377C>T" "216, 121058, 1, 0.001784" "{PMID:Westeneng-van Haaften 2012:22449572}" "" "5693G>A" "On its own not significantely found more often in published STGD compared to ExAC (p-value 0.39). However, together with other non-significant variants published related to STGD, they are significantly more often in STGD patients (p-value <0.01)." "Germline" "-" "" "0" "" "" "g.94010821C>T" "" "likely pathogenic" ""
"0000123472" "0" "30" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Westeneng-van Haaften 2012:22449572}" "" "5882G>A" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "likely benign" ""
"0000123473" "3" "70" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "14, 120056, 0, 0.0001166" "{PMID:Westeneng-van Haaften 2012:22449572}" "" "634C>T" "" "Germline" "?" "" "0" "" "" "g.94098928G>A" "" "likely pathogenic" ""
"0000123474" "3" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Westeneng-van Haaften 2012:22449572}" "" "2588G>C" "" "Germline" "?" "rs76157638" "0" "" "" "g.94051698C>G" "" "pathogenic" ""
"0000123475" "0" "50" "1" "94485137" "94485137" "subst" "0" "01695" "ABCA4_000465" "g.94485137C>A" "" "{PMID:Westeneng-van Haaften 2012:22449572}, {PMID:van Huet 2014:25324290}" "" "5196+1G>T" "" "Germline" "-" "" "0" "" "" "g.94019581C>A" "" "VUS" ""
"0000123476" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Testa 2012:22661472}" "" "G1961E" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "pathogenic" ""
"0000123477" "0" "70" "1" "94577046" "94577049" "dup" "0" "01695" "ABCA4_000227" "g.94577046_94577049dup" "" "{PMID:Testa 2012:22661472}" "" "250InsCAAA" "" "Germline" "?" "" "0" "" "" "g.94111490_94111493dup" "" "likely pathogenic" ""
"0000123478" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Testa 2012:22661472}" "" "G1961E" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "pathogenic" ""
"0000123479" "0" "70" "1" "94577046" "94577049" "dup" "0" "01695" "ABCA4_000227" "g.94577046_94577049dup" "" "{PMID:Testa 2012:22661472}" "" "250InsCAAA" "" "Germline" "?" "" "0" "" "" "g.94111490_94111493dup" "" "likely pathogenic" ""
"0000123480" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Testa 2012:22661472}" "" "G1961E" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "pathogenic" ""
"0000123481" "0" "70" "1" "94466426" "94466426" "subst" "1.62433E-5" "01695" "ABCA4_000124" "g.94466426G>A" "2, 121400, 0, 0.00001647" "{PMID:Testa 2012:22661472}" "" "R2149X" "" "Germline" "?" "" "0" "" "" "g.94000870G>A" "" "likely pathogenic" ""
"0000123482" "3" "90" "1" "94473278" "94473278" "del" "3.25908E-5" "01695" "ABCA4_000392" "g.94473278del" "" "{PMID:Testa 2012:22661472}" "" "5917delG" "" "Germline" "?" "" "0" "" "" "g.94007722del" "" "pathogenic" ""
"0000123483" "3" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Testa 2012:22661472}" "" "L541P;A1038V" "" "Germline" "?" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000123484" "3" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Testa 2012:22661472}" "" "L541P;A1038V" "" "Germline" "?" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic" ""
"0000123485" "0" "70" "1" "94487251" "94487251" "subst" "2.85679E-5" "01695" "ABCA4_000490" "g.94487251G>T" "3, 113672, 0, 0.00002639" "{PMID:Testa 2012:22661472}" "" "A1598D" "" "Germline" "-" "" "0" "" "" "g.94021695G>T" "" "likely pathogenic" ""
"0000123486" "0" "50" "1" "0" "0" "" "0" "01695" "ABCA4_000000" "g.?" "" "{PMID:Testa 2012:22661472}" "" "Y850K" "" "Germline" "?" "" "0" "" "" "" "" "VUS" ""
"0000123487" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "15, 121412, 0, 0.0001235" "{PMID:Testa 2012:22661472}" "" "L541P" "" "Germline" "-" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000123488" "0" "70" "1" "94508353" "94508353" "subst" "2.8431E-5" "01695" "ABCA4_000141" "g.94508353G>A" "4, 121358, 0, 0.00003296" "{PMID:Testa 2012:22661472}" "" "R1098C" "" "Germline" "?" "" "0" "" "" "g.94042797G>A" "" "likely pathogenic" ""
"0000123489" "0" "70" "1" "94486794" "94486794" "subst" "0" "01695" "ABCA4_000478" "g.94486794A>G" "" "{PMID:Testa 2012:22661472}" "" "IVS35+2t>c" "" "Germline" "-" "" "0" "" "" "g.94021238A>G" "" "likely pathogenic" ""
"0000123490" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Testa 2012:22661472}" "" "G1961E" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "pathogenic" ""
"0000123491" "3" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Testa 2012:22661472}" "" "L541P;A1038V" "" "Germline" "?" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000123492" "3" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Testa 2012:22661472}" "" "L541P;A1038V" "" "Germline" "?" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic" ""
"0000123493" "3" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Testa 2012:22661472}" "" "L541P;A1038V" "" "Germline" "?" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000123494" "3" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Testa 2012:22661472}" "" "L541P;A1038V" "" "Germline" "?" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic" ""
"0000123495" "3" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Testa 2012:22661472}" "" "L541P;A1038V" "" "Germline" "?" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000123496" "3" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Testa 2012:22661472}" "" "L541P;A1038V" "" "Germline" "?" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic" ""
"0000123497" "3" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Testa 2012:22661472}" "" "L541P;A1038V" "" "Germline" "?" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000123498" "3" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Testa 2012:22661472}" "" "L541P;A1038V" "" "Germline" "?" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic" ""
"0000123499" "0" "90" "1" "94496008" "94496008" "subst" "2.03056E-5" "01695" "ABCA4_000148" "g.94496008C>T" "3, 121360, 0, 0.00002472" "{PMID:Testa 2012:22661472}" "" "R1443H" "" "Germline" "-" "" "0" "" "" "g.94030452C>T" "" "pathogenic" ""
"0000123500" "0" "70" "1" "94486794" "94486794" "subst" "0" "01695" "ABCA4_000478" "g.94486794A>G" "" "{PMID:Testa 2012:22661472}" "" "IVS35+2t>c" "" "Germline" "?" "" "0" "" "" "g.94021238A>G" "" "likely pathogenic" ""
"0000123501" "0" "70" "1" "94526296" "94526296" "subst" "1.64555E-5" "01695" "ABCA4_000768" "g.94526296G>A" "1, 96614, 0, 0.00001035" "{PMID:Testa 2012:22661472}" "" "R653C" "" "Germline" "-" "" "0" "" "" "g.94060740G>A" "" "likely pathogenic" ""
"0000123502" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Testa 2012:22661472}" "" "G1961E" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000123503" "0" "90" "1" "94487490" "94487490" "subst" "0.00122268" "01695" "ABCA4_000506" "g.94487490A>G" "158, 121114, 0, 0.001305" "{PMID:Testa 2012:22661472}" "" "I1562T" "On its own not significantely found more often in published STGD compared to ExAC (p-value 0.92). However, together with other non-significant variants published related to STGD, they are significantly more often in STGD patients (p-value <0.01)." "Germline" "-" "" "0" "" "" "g.94021934A>G" "" "pathogenic" ""
"0000123504" "0" "30" "1" "94466426" "94466426" "subst" "1.62433E-5" "01695" "ABCA4_000124" "g.94466426G>A" "2, 121400, 0, 0.00001647" "{PMID:Testa 2012:22661472}" "" "R2149X" "" "Germline" "yes" "" "0" "" "" "g.94000870G>A" "" "likely benign" ""
"0000123505" "0" "90" "1" "94487490" "94487490" "subst" "0.00122268" "01695" "ABCA4_000506" "g.94487490A>G" "158, 121114, 0, 0.001305" "{PMID:Testa 2012:22661472}" "" "I1562T" "On its own not significantely found more often in published STGD compared to ExAC (p-value 0.92). However, together with other non-significant variants published related to STGD, they are significantly more often in STGD patients (p-value <0.01)." "Germline" "-" "" "0" "" "" "g.94021934A>G" "" "pathogenic" ""
"0000123506" "0" "30" "1" "94467413" "94467413" "subst" "8.12612E-6" "01695" "ABCA4_000131" "g.94467413C>G" "1, 120956, 0, 0.000008267" "{PMID:Testa 2012:22661472}" "" "IVS45+1g>c" "" "Germline" "yes" "" "0" "" "" "g.94001857C>G" "" "likely benign" ""
"0000123507" "0" "70" "1" "94586550" "94586550" "subst" "1.21864E-5" "01695" "ABCA4_000037" "g.94586550G>A" "3, 121392, 0, 0.00002471" "{PMID:Testa 2012:22661472}" "" "R18W" "" "Germline" "-" "" "0" "" "" "g.94120994G>A" "" "likely pathogenic" ""
"0000123508" "0" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "12, 60116, 0, 0.0001996" "{PMID:Testa 2012:22661472}" "" "C1490Y" "" "Germline" "?" "" "0" "" "" "g.94029515C>T" "" "likely pathogenic" ""
"0000123509" "3" "90" "1" "94473278" "94473278" "del" "3.25908E-5" "01695" "ABCA4_000392" "g.94473278del" "" "{PMID:Testa 2012:22661472}" "" "5917delG" "" "Germline" "?" "" "0" "" "" "g.94007722del" "" "pathogenic" ""
"0000123510" "3" "90" "1" "94473278" "94473278" "del" "3.25908E-5" "01695" "ABCA4_000392" "g.94473278del" "" "{PMID:Testa 2012:22661472}" "" "5917delG" "" "Germline" "?" "" "0" "" "" "g.94007722del" "" "pathogenic" ""
"0000123511" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "15, 121412, 0, 0.0001235" "{PMID:Testa 2012:22661472}" "" "L541P" "" "Germline" "-" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000123512" "0" "70" "1" "94526289" "94526289" "subst" "0.000417202" "01695" "ABCA4_000767" "g.94526289A>C" "67, 103634, 0, 0.0006465" "{PMID:Testa 2012:22661472}" "" "F655C" "" "Germline" "?" "" "0" "" "" "g.94060733A>C" "" "likely pathogenic" ""
"0000123513" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "15, 121412, 0, 0.0001235" "{PMID:Testa 2012:22661472}" "" "L541P" "" "Germline" "-" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000123514" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Testa 2012:22661472}" "" "G1961E" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000123515" "0" "70" "1" "94577046" "94577049" "dup" "0" "01695" "ABCA4_000227" "g.94577046_94577049dup" "" "{PMID:Testa 2012:22661472}" "" "250insCAAA" "" "Germline" "-" "" "0" "" "" "g.94111490_94111493dup" "" "likely pathogenic" ""
"0000123516" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Testa 2012:22661472}" "" "G1961E" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "pathogenic" ""
"0000123517" "0" "50" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "42, 120772, 0, 0.0003478" "{PMID:Testa 2012:22661472}" "" "IVS40+5g>a" "" "Germline" "-" "" "0" "" "" "g.94010795C>T" "" "VUS" ""
"0000123518" "0" "90" "1" "94522386" "94522386" "subst" "0" "01695" "ABCA4_000746" "g.94522386C>T" "" "{PMID:Testa 2012:22661472}" "" "IVS15-8g>a" "" "Germline" "?" "" "0" "" "" "g.94056830C>T" "" "pathogenic" ""
"0000123519" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Testa 2012:22661472}" "" "G1961E" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000123520" "0" "70" "1" "94487436" "94487440" "delins" "0" "01695" "ABCA4_000501" "g.94487436_94487440delinsGG" "" "{PMID:Testa 2012:22661472}" "" "4736del6bpins2bp" "" "Germline" "?" "" "0" "" "" "g.94021880_94021884delinsGG" "" "likely pathogenic" ""
"0000123521" "0" "70" "1" "94528218" "94528218" "subst" "0" "01695" "ABCA4_000273" "g.94528218C>T" "" "{PMID:Testa 2012:22661472}" "" "G618R" "" "Germline" "-" "" "0" "" "" "g.94062662C>T" "" "likely pathogenic" ""
"0000123522" "0" "70" "1" "94473281" "94473281" "subst" "0" "01695" "ABCA4_000393" "g.94473281C>T" "" "{PMID:Testa 2012:22661472}" "" "G1972R" "" "Germline" "?" "" "0" "" "" "g.94007725C>T" "" "likely pathogenic" ""
"0000123523" "0" "70" "1" "94495009" "94495009" "dup" "0" "01695" "ABCA4_000087" "g.94495009dup" "" "{PMID:Testa 2012:22661472}" "" "4538insC" "" "Germline" "-" "" "0" "" "" "g.94029453dup" "" "likely pathogenic" ""
"0000123524" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Testa 2012:22661472}" "" "G1961E" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "pathogenic" ""
"0000123525" "0" "70" "1" "94486794" "94486794" "subst" "0" "01695" "ABCA4_000478" "g.94486794A>G" "" "{PMID:Testa 2012:22661472}" "" "IVS35+2t>c" "" "Germline" "-" "" "0" "" "" "g.94021238A>G" "" "likely pathogenic" ""
"0000123526" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Testa 2012:22661472}" "" "G1961E" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "pathogenic" ""
"0000123527" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "26, 121404, 0, 0.0002142" "{PMID:Testa 2012:22661472}" "" "L2027F" "" "Germline" "-" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic" ""
"0000123528" "0" "70" "1" "94476428" "94476428" "subst" "7.71699E-5" "01695" "ABCA4_000422" "g.94476428G>A" "7, 121344, 0, 0.00005769" "{PMID:Testa 2012:22661472}" "" "A1881V" "On its own not significantely found more often in published STGD compared to ExAC (p-value 0.47). However, together with other non-significant variants published related to STGD, they are significantly more often in STGD patients (p-value <0.01)." "Germline" "?" "" "0" "" "" "g.94010872G>A" "" "likely pathogenic" ""
"0000123529" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Testa 2012:22661472}" "" "G1961E" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "pathogenic" ""
"0000123530" "0" "70" "1" "94471056" "94471056" "subst" "2.84398E-5" "01695" "ABCA4_000050" "g.94471056G>A" "3, 121402, 0, 0.00002471" "{PMID:Testa 2012:22661472}" "" "R2030X" "" "Germline" "yes" "" "0" "" "" "g.94005500G>A" "" "likely pathogenic" ""
"0000123531" "0" "70" "1" "94486794" "94486794" "subst" "0" "01695" "ABCA4_000478" "g.94486794A>G" "" "{PMID:Testa 2012:22661472}" "" "IVS35+2t>c" "" "Germline" "-" "" "0" "" "" "g.94021238A>G" "" "likely pathogenic" ""
"0000123532" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Testa 2012:22661472}" "" "G1961E" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "pathogenic" ""
"0000123533" "0" "70" "1" "94486794" "94486794" "subst" "0" "01695" "ABCA4_000478" "g.94486794A>G" "" "{PMID:Testa 2012:22661472}" "" "IVS35+2t>c" "" "Germline" "-" "" "0" "" "" "g.94021238A>G" "" "likely pathogenic" ""
"0000123534" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Testa 2012:22661472}" "" "G1961E" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "pathogenic" ""
"0000123535" "0" "70" "1" "94577046" "94577049" "dup" "0" "01695" "ABCA4_000227" "g.94577046_94577049dup" "" "{PMID:Testa 2012:22661472}" "" "250InsCAAA" "" "Germline" "-" "" "0" "" "" "g.94111490_94111493dup" "" "likely pathogenic" ""
"0000123536" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Testa 2012:22661472}" "" "G1961E" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "pathogenic" ""
"0000123537" "0" "70" "1" "94486895" "94486895" "subst" "3.24923E-5" "01695" "ABCA4_000484" "g.94486895C>T" "7, 121398, 0, 0.00005766" "{PMID:Testa 2012:22661472}" "" "R1640Q" "" "Germline" "-" "" "0" "" "" "g.94021339C>T" "" "likely pathogenic" ""
"0000123538" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Testa 2012:22661472}" "" "G1961E" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000123539" "0" "90" "1" "94466423" "94466423" "subst" "0" "01695" "ABCA4_000818" "g.94466423A>G" "" "{PMID:Testa 2012:22661472}" "" "C2150R" "" "Germline" "-" "" "0" "" "" "g.94000867A>G" "" "pathogenic" ""
"0000123540" "0" "70" "1" "94517215" "94517216" "ins" "0" "01695" "ABCA4_000702" "g.94517215_94517216insAAA" "" "{PMID:Testa 2012:22661472}" "" "2626InsTTT" "" "Germline" "?" "" "0" "" "" "g.94051659_94051660insAAA" "" "likely pathogenic" ""
"0000123541" "0" "90" "1" "94466423" "94466423" "subst" "0" "01695" "ABCA4_000818" "g.94466423A>G" "" "{PMID:Testa 2012:22661472}" "" "C2150R" "" "Germline" "-" "" "0" "" "" "g.94000867A>G" "" "pathogenic" ""
"0000123542" "0" "70" "1" "94517215" "94517216" "ins" "0" "01695" "ABCA4_000702" "g.94517215_94517216insAAA" "" "{PMID:Testa 2012:22661472}" "" "2626InsTTT" "" "Germline" "?" "" "0" "" "" "g.94051659_94051660insAAA" "" "likely pathogenic" ""
"0000123543" "0" "90" "1" "94577010" "94577010" "subst" "1.22004E-5" "01695" "ABCA4_000224" "g.94577010T>C" "3, 119734, 0, 0.00002506" "{PMID:Testa 2012:22661472}" "" "N96D" "" "Germline" "-" "" "0" "" "" "g.94111454T>C" "" "pathogenic" ""
"0000123544" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "42, 120772, 0, 0.0003478" "{PMID:Testa 2012:22661472}" "" "IVS40+5g>a" "" "Germline" "?" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic" ""
"0000123545" "3" "90" "1" "94548999" "94548999" "subst" "0" "01695" "ABCA4_000363" "g.94548999T>A" "" "{PMID:Testa 2012:22661472}" "" "IVS6-2a>t" "" "Germline" "?" "" "0" "" "" "g.94083443T>A" "" "pathogenic" ""
"0000123546" "0" "70" "1" "94543268" "94543268" "subst" "0.000778106" "01695" "ABCA4_000306" "g.94543268C>T" "97, 120202, 0, 0.000807" "{PMID:Testa 2012:22661472}" "" "R511H" "" "Germline" "-" "" "0" "" "" "g.94077712C>T" "" "likely pathogenic" ""
"0000123547" "0" "70" "1" "94528842" "94528842" "subst" "4.06441E-6" "01695" "ABCA4_000302" "g.94528842T>C" "" "{PMID:Testa 2012:22661472}" "" "N529S" "" "Germline" "?" "" "0" "" "" "g.94063286T>C" "" "likely pathogenic" ""
"0000123548" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "42, 120772, 0, 0.0003478" "{PMID:Testa 2012:22661472}" "" "IVS40+5g>a" "" "Germline" "-" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic" ""
"0000123549" "0" "90" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "21, 121302, 0, 0.0001731" "{PMID:Testa 2012:22661472}" "" "N965S" "" "Germline" "?" "" "0" "" "" "g.94046943T>C" "" "pathogenic" ""
"0000123550" "0" "70" "1" "94577010" "94577010" "subst" "1.22004E-5" "01695" "ABCA4_000224" "g.94577010T>C" "3, 119734, 0, 0.00002506" "{PMID:Testa 2012:22661472}" "" "N96D" "" "Germline" "-" "" "0" "" "" "g.94111454T>C" "" "likely pathogenic" ""
"0000123551" "0" "70" "1" "94466452" "94466452" "subst" "4.06088E-6" "01695" "ABCA4_000822" "g.94466452A>T" "1, 121406, 0, 0.000008237" "{PMID:Testa 2012:22661472}" "" "L2140Q" "" "Germline" "?" "" "0" "" "" "g.94000896A>T" "" "likely pathogenic" ""
"0000123552" "0" "70" "1" "94526184" "94526184" "subst" "0" "01695" "ABCA4_000756" "g.94526184C>T" "" "{PMID:Testa 2012:22661472}" "" "G690D" "" "Germline" "-" "" "0" "" "" "g.94060628C>T" "" "likely pathogenic" ""
"0000123553" "0" "70" "1" "94487251" "94487251" "subst" "2.85679E-5" "01695" "ABCA4_000490" "g.94487251G>T" "3, 113672, 0, 0.00002639" "{PMID:Testa 2012:22661472}" "" "A1598D" "" "Germline" "?" "" "0" "" "" "g.94021695G>T" "" "likely pathogenic" ""
"0000123554" "0" "70" "1" "94486794" "94486794" "subst" "0" "01695" "ABCA4_000478" "g.94486794A>G" "" "{PMID:Testa 2012:22661472}" "" "IVS35+2t>c" "" "Germline" "-" "" "0" "" "" "g.94021238A>G" "" "likely pathogenic" ""
"0000123555" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Testa 2012:22661472}" "" "G1961E" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "pathogenic" ""
"0000123556" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Testa 2012:22661472}" "" "G1961E" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000123557" "0" "70" "1" "94528218" "94528218" "subst" "0" "01695" "ABCA4_000273" "g.94528218C>T" "" "{PMID:Testa 2012:22661472}" "" "G618R" "" "Germline" "?" "" "0" "" "" "g.94062662C>T" "" "likely pathogenic" ""
"0000123558" "0" "70" "1" "94577010" "94577010" "subst" "1.22004E-5" "01695" "ABCA4_000224" "g.94577010T>C" "3, 119734, 0, 0.00002506" "{PMID:Testa 2012:22661472}" "" "N96D" "" "Germline" "-" "" "0" "" "" "g.94111454T>C" "" "likely pathogenic" ""
"0000123559" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Testa 2012:22661472}" "" "G1961E" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000123560" "0" "90" "1" "94495009" "94495009" "dup" "0" "01695" "ABCA4_000087" "g.94495009dup" "" "{PMID:Testa 2012:22661472}" "" "4538insC" "" "Germline" "-" "" "0" "" "" "g.94029453dup" "" "pathogenic" ""
"0000123561" "0" "90" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "42, 120772, 0, 0.0003478" "{PMID:Testa 2012:22661472}" "" "IVS40+5g>a" "" "Germline" "?" "" "0" "" "" "g.94010795C>T" "" "pathogenic" ""
"0000123562" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Testa 2012:22661472}" "" "G1961E" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "pathogenic" ""
"0000123563" "0" "70" "1" "94467413" "94467413" "subst" "8.12612E-6" "01695" "ABCA4_000131" "g.94467413C>G" "1, 120956, 0, 0.000008267" "{PMID:Testa 2012:22661472}" "" "IVS45+1g>c" "" "Germline" "?" "" "0" "" "" "g.94001857C>G" "" "likely pathogenic" ""
"0000123564" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Testa 2012:22661472}" "" "G1961E" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "pathogenic" ""
"0000123565" "0" "70" "1" "94467413" "94467413" "subst" "8.12612E-6" "01695" "ABCA4_000131" "g.94467413C>G" "1, 120956, 0, 0.000008267" "{PMID:Testa 2012:22661472}" "" "IVS45+1g>c" "" "Germline" "?" "" "0" "" "" "g.94001857C>G" "" "likely pathogenic" ""
"0000123566" "0" "90" "1" "94486794" "94486794" "subst" "0" "01695" "ABCA4_000478" "g.94486794A>G" "" "{PMID:Testa 2012:22661472}" "" "IVS35+2t>c" "" "Germline" "-" "" "0" "" "" "g.94021238A>G" "" "pathogenic" ""
"0000123567" "0" "90" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "42, 120772, 0, 0.0003478" "{PMID:Testa 2012:22661472}" "" "IVS40+5g>a" "" "Germline" "?" "" "0" "" "" "g.94010795C>T" "" "pathogenic" ""
"0000123568" "0" "70" "1" "94577010" "94577010" "subst" "1.22004E-5" "01695" "ABCA4_000224" "g.94577010T>C" "3, 119734, 0, 0.00002506" "{PMID:Testa 2012:22661472}" "" "N96D" "" "Germline" "-" "" "0" "" "" "g.94111454T>C" "" "likely pathogenic" ""
"0000123569" "0" "70" "1" "94466452" "94466452" "subst" "4.06088E-6" "01695" "ABCA4_000822" "g.94466452A>T" "1, 121406, 0, 0.000008237" "{PMID:Testa 2012:22661472}" "" "L2140Q" "" "Germline" "?" "" "0" "" "" "g.94000896A>T" "" "likely pathogenic" ""
"0000123570" "0" "90" "1" "94467413" "94467413" "subst" "8.12612E-6" "01695" "ABCA4_000131" "g.94467413C>G" "1, 120956, 0, 0.000008267" "{PMID:Testa 2012:22661472}" "" "IVS45+1g>c" "" "Germline" "-" "" "0" "" "" "g.94001857C>G" "" "pathogenic" ""
"0000123571" "0" "90" "1" "94466426" "94466426" "subst" "1.62433E-5" "01695" "ABCA4_000124" "g.94466426G>A" "2, 121400, 0, 0.00001647" "{PMID:Testa 2012:22661472}" "" "R2149X" "" "Germline" "?" "" "0" "" "" "g.94000870G>A" "" "pathogenic" ""
"0000123572" "0" "90" "1" "94544913" "94544913" "subst" "0" "01695" "ABCA4_000331" "g.94544913G>C" "" "{PMID:Testa 2012:22661472}" "" "P402A" "" "Germline" "-" "" "0" "" "" "g.94079357G>C" "" "pathogenic" ""
"0000123573" "0" "70" "1" "94577046" "94577049" "dup" "0" "01695" "ABCA4_000227" "g.94577046_94577049dup" "" "{PMID:Testa 2012:22661472}" "" "250insCAAA" "" "Germline" "?" "" "0" "" "" "g.94111490_94111493dup" "" "likely pathogenic" ""
"0000123574" "0" "90" "1" "94487251" "94487251" "subst" "2.85679E-5" "01695" "ABCA4_000490" "g.94487251G>T" "3, 113672, 0, 0.00002639" "{PMID:Testa 2012:22661472}" "" "A1598D" "" "Germline" "-" "" "0" "" "" "g.94021695G>T" "" "pathogenic" ""
"0000123575" "0" "70" "1" "94471056" "94471056" "subst" "2.84398E-5" "01695" "ABCA4_000050" "g.94471056G>A" "3, 121402, 0, 0.00002471" "{PMID:Testa 2012:22661472}" "" "R2030X" "" "Germline" "?" "" "0" "" "" "g.94005500G>A" "" "likely pathogenic" ""
"0000123576" "3" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Burke 2012:22661473}" "" "G1961E" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000123577" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Burke 2012:22661473}" "" "G1961E" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000123578" "1" "70" "1" "94502756" "94502756" "subst" "0.000422575" "01695" "ABCA4_000032" "g.94502756G>A" "" "{PMID:Burke 2012:22661473}" "" "G1961E, T1253M" "" "Germline" "?" "" "0" "" "" "g.94037200G>A" "" "likely pathogenic" ""
"0000123579" "1" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Burke 2012:22661473}" "" "G1961E, T1253M" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000123580" "3" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Burke 2012:22661473}" "" "G1961E" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000123581" "3" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Burke 2012:22661473}" "" "G1961E" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000123582" "3" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Burke 2012:22661473}" "" "G1961E" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000123583" "3" "50" "1" "94476890" "94476890" "subst" "4.06227E-6" "01695" "ABCA4_000434" "g.94476890G>C" "" "{PMID:Burke 2012:22661473}" "" "G1961E, H1838D" "" "Germline" "?" "" "0" "" "" "g.94011334G>C" "" "VUS" ""
"0000123584" "3" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Burke 2012:22661473}" "" "G1961E, H1838D" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000123585" "3" "50" "1" "94476890" "94476890" "subst" "4.06227E-6" "01695" "ABCA4_000434" "g.94476890G>C" "" "{PMID:Burke 2012:22661473}" "" "G1961E, H1838D" "" "Germline" "?" "" "0" "" "" "g.94011334G>C" "" "VUS" ""
"0000123586" "3" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Burke 2012:22661473}" "" "G1961E, H1838D" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000123587" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Burke 2012:22661473}" "" "G1961E" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000123588" "1" "70" "1" "94577008" "94577008" "subst" "0" "01695" "ABCA4_000223" "g.94577008G>T" "" "{PMID:Burke 2012:22661473}" "" "G1961E, N96K" "" "Germline" "?" "" "0" "" "" "g.94111452G>T" "" "likely pathogenic" ""
"0000123589" "1" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Burke 2012:22661473}" "" "G1961E, N96K" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000123590" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Burke 2012:22661473}" "" "G1961E" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000123591" "1" "70" "1" "94577008" "94577008" "subst" "0" "01695" "ABCA4_000223" "g.94577008G>T" "" "{PMID:Burke 2012:22661473}" "" "G1961E, N96K" "" "Germline" "?" "" "0" "" "" "g.94111452G>T" "" "likely pathogenic" ""
"0000123592" "1" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Burke 2012:22661473}" "" "G1961E, N96K" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000123593" "3" "70" "1" "94577008" "94577008" "subst" "0" "01695" "ABCA4_000223" "g.94577008G>T" "" "{PMID:Burke 2012:22661473}" "" "G1961E, N96K" "" "Germline" "?" "" "0" "" "" "g.94111452G>T" "" "likely pathogenic" ""
"0000123594" "3" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Burke 2012:22661473}" "" "G1961E, N96K" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000123595" "3" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Burke 2012:22661473}" "" "G1961E" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000123596" "0" "70" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "21, 121302, 0, 0.0001731" "{PMID:Strom 2012:22863181}" "" "p.N965S" "" "Germline" "-" "" "0" "" "" "g.94046943T>C" "" "likely pathogenic" ""
"0000123597" "0" "70" "1" "94471032" "94471032" "subst" "1.62553E-5" "01695" "ABCA4_000792" "g.94471032G>A" "3, 121400, 0, 0.00002471" "{PMID:Strom 2012:22863181}" "" "p.R2038W" "" "Germline" "?" "" "0" "" "" "g.94005476G>A" "" "likely pathogenic" ""
"0000123598" "0" "70" "1" "94528164" "94528164" "subst" "2.03336E-5" "01695" "ABCA4_000267" "g.94528164G>A" "" "{PMID:Strom 2012:22863181}" "" "p.Q636X" "" "Germline" "-" "" "0" "" "" "g.94062608G>A" "" "likely pathogenic" ""
"0000123599" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Strom 2012:22863181}" "" "p.G1961E" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "pathogenic" ""
"0000123600" "0" "50" "1" "94510253" "94510253" "subst" "0.000247694" "01695" "ABCA4_000108" "g.94510253A>G" "36, 121412, 0, 0.0002965" "{PMID:Strom 2012:22863181}" "" "p.V989A" "" "Germline" "-" "" "0" "" "" "g.94044697A>G" "" "VUS" ""
"0000123601" "0" "90" "1" "94476824" "94476824" "subst" "8.12889E-6" "01695" "ABCA4_000428" "g.94476824G>A" "" "{PMID:Oldani 2012:23096905}" "" "Tyr1858Asp" "" "Germline" "-" "" "0" "" "" "g.94011268G>A" "" "pathogenic" ""
"0000123602" "1" "70" "1" "94586601" "94586601" "subst" "8.12156E-6" "01695" "ABCA4_000264" "g.94586601T>C" "" "{PMID:Oldani 2012:23096905}" "" "Met1Val;Arg2030Gln" "" "Germline" "?" "" "0" "" "" "g.94121045T>C" "" "likely pathogenic" ""
"0000123603" "1" "70" "1" "94471055" "94471055" "subst" "0.00035346" "01695" "ABCA4_000029" "g.94471055C>T" "" "{PMID:Oldani 2012:23096905}" "" "Met1Val;Arg2030Gln" "" "Germline" "?" "" "0" "" "" "g.94005499C>T" "" "likely pathogenic" ""
"0000123604" "0" "70" "1" "94568675" "94568675" "subst" "0.00146249" "01695" "ABCA4_000210" "g.94568675T>C" "159, 120956, 0, 0.001315" "{PMID:Oldani 2012:23096905}" "" "Ile156Val" "On its own not significantely found more often in published STGD compared to ExAC (p-value 0.50). However, together with other non-significant variants published related to STGD, they are significantly more often in STGD patients (p-value <0.01)." "Germline" "-" "" "0" "" "" "g.94103119T>C" "" "likely pathogenic" ""
"0000123605" "1" "70" "1" "94528251" "94528251" "subst" "0" "01695" "ABCA4_000282" "g.94528251C>K" "" "{PMID:Oldani 2012:23096905}" "" "Gly607Arg;Gly1961Glu" "Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message." "Germline" "?" "" "0" "" "" "g.94062695C>K" "" "likely pathogenic" ""
"0000123606" "1" "30" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Oldani 2012:23096905}" "" "Gly607Arg;Gly1961Glu" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "likely benign" ""
"0000123607" "0" "70" "1" "94586601" "94586601" "subst" "8.12156E-6" "01695" "ABCA4_000264" "g.94586601T>C" "" "{PMID:Oldani 2012:23096905}" "" "Met1Val" "" "Germline" "-" "" "0" "" "" "g.94121045T>C" "" "likely pathogenic" ""
"0000123608" "1" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Oldani 2012:23096905}" "" "Gly1961Glu;Arg2030Gln" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000123609" "1" "90" "1" "94471055" "94471055" "subst" "0.00035346" "01695" "ABCA4_000029" "g.94471055C>T" "" "{PMID:Oldani 2012:23096905}" "" "Gly1961Glu;Arg2030Gln" "" "Germline" "?" "" "0" "" "" "g.94005499C>T" "" "pathogenic" ""
"0000123610" "0" "90" "1" "94490550" "94490550" "subst" "0.000105588" "01695" "ABCA4_000523" "g.94490550C>T" "11, 121406, 0, 0.00009061" "{PMID:Oldani 2012:23096905}" "" "Asp1532Asn" "" "Germline" "-" "" "0" "" "" "g.94024994C>T" "" "pathogenic" ""
"0000123611" "0" "70" "1" "94471056" "94471056" "subst" "2.84398E-5" "01695" "ABCA4_000050" "g.94471056G>A" "3, 121402, 0, 0.00002471" "{PMID:Oldani 2012:23096905}" "" "Arg2030term" "" "Germline" "?" "" "0" "" "" "g.94005500G>A" "" "likely pathogenic" ""
"0000123612" "0" "90" "1" "94546047" "94546047" "subst" "0" "01695" "ABCA4_000150" "g.94546047A>T" "" "{PMID:Oldani 2012:23096905}" "" "Tyr362Term" "" "Germline" "-" "" "0" "" "" "g.94080491A>T" "" "pathogenic" ""
"0000123613" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Oldani 2012:23096905}" "" "Gly863Ala" "" "Germline" "?" "rs76157638" "0" "" "" "g.94051698C>G" "" "pathogenic" ""
"0000123614" "0" "70" "1" "94508353" "94508353" "subst" "2.8431E-5" "01695" "ABCA4_000141" "g.94508353G>A" "4, 121358, 0, 0.00003296" "{PMID:Oldani 2012:23096905}" "" "Arg1098Cys" "" "Germline" "-" "" "0" "" "" "g.94042797G>A" "" "likely pathogenic" ""
"0000123615" "0" "70" "1" "94495078" "94495078" "subst" "8.37044E-6" "01695" "ABCA4_000042" "g.94495078A>G" "1, 70400, 0, 0.0000142" "{PMID:Oldani 2012:23096905}" "" "Cys1488Arg" "" "Germline" "?" "" "0" "" "" "g.94029522A>G" "" "likely pathogenic" ""
"0000123616" "0" "70" "1" "94586550" "94586550" "subst" "1.21864E-5" "01695" "ABCA4_000037" "g.94586550G>A" "3, 121392, 0, 0.00002471" "{PMID:Oldani 2012:23096905}" "" "Arg18Trp" "" "Germline" "-" "" "0" "" "" "g.94120994G>A" "" "likely pathogenic" ""
"0000123617" "0" "70" "1" "94522239" "94522239" "subst" "2.03305E-5" "01695" "ABCA4_000736" "g.94522239A>T" "1, 119332, 0, 0.00000838" "{PMID:Oldani 2012:23096905}" "" "Val767Asp" "" "Germline" "?" "" "0" "" "" "g.94056683A>T" "" "likely pathogenic" ""
"0000123618" "0" "90" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "42, 120772, 0, 0.0003478" "{PMID:Oldani 2012:23096905}" "" "IVS40+5G>A" "" "Germline" "-" "" "0" "" "" "g.94010795C>T" "" "pathogenic" ""
"0000123619" "0" "90" "1" "94528132" "94528132" "subst" "4.06835E-6" "01695" "ABCA4_000773" "g.94528132C>T" "1, 120972, 0, 0.000008266" "{PMID:Oldani 2012:23096905}" "" "IVS13+1G>A" "" "Germline" "?" "" "0" "" "" "g.94062576C>T" "" "pathogenic" ""
"0000123620" "0" "50" "1" "94495009" "94495009" "dup" "0" "01695" "ABCA4_000087" "g.94495009dup" "" "{PMID:Oldani 2012:23096905}" "" "p.Gln1513Profs*42" "" "Germline" "-" "" "0" "" "" "g.94029453dup" "" "VUS" ""
"0000123621" "0" "50" "1" "94505622" "94505623" "ins" "0" "01695" "ABCA4_001010" "g.94505622_94505623insNN" "" "{PMID:Oldani 2012:23096905}" "" "Leu1195Argfs*2" "" "Germline" "-" "" "0" "" "" "g.94040066_94040067insNN" "" "VUS" ""
"0000123622" "0" "50" "1" "94466422" "94466422" "subst" "2.43651E-5" "01695" "ABCA4_000817" "g.94466422C>T" "3, 121398, 0, 0.00002471" "{PMID:Oldani 2012:23096905}" "" "Cys2150Tyr" "" "Germline" "-" "" "0" "" "" "g.94000866C>T" "" "VUS" ""
"0000123623" "0" "70" "1" "94520705" "94520705" "subst" "0" "01695" "ABCA4_000714" "g.94520705T>C" "" "{PMID:Oldani 2012:23096905}" "" "p.Tyr850Cys" "" "Germline" "-" "" "0" "" "" "g.94055149T>C" "" "likely pathogenic" ""
"0000123624" "0" "70" "1" "94512518" "94512518" "subst" "1.62517E-5" "01695" "ABCA4_000687" "g.94512518T>C" "2, 121268, 0, 0.00001649" "{PMID:Oldani 2012:23096905}" "" "p.Thr959Ala" "" "Germline" "?" "" "0" "" "" "g.94046962T>C" "" "likely pathogenic" ""
"0000123625" "1" "70" "1" "94586601" "94586601" "subst" "8.12156E-6" "01695" "ABCA4_000264" "g.94586601T>C" "" "{PMID:Downes 2012:23143460}" "" "1A>G" "" "Germline" "-" "" "0" "" "" "g.94121045T>C" "" "likely pathogenic" ""
"0000123626" "1" "90" "1" "94471055" "94471055" "subst" "0.00035346" "01695" "ABCA4_000029" "g.94471055C>T" "" "{PMID:Downes 2012:23143460}" "" "1A>G" "" "Germline" "-" "" "0" "" "" "g.94005499C>T" "" "pathogenic" ""
"0000123627" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Downes 2012:23143460}" "" "2588G>C" "" "Germline" "yes" "rs76157638" "0" "" "" "g.94051698C>G" "" "pathogenic" ""
"0000123628" "0" "90" "1" "94577135" "94577135" "subst" "2.43718E-5" "01695" "ABCA4_000240" "g.94577135C>T" "2, 121210, 0, 0.0000165" "{PMID:Downes 2012:23143460}" "" "161G>A" "" "Germline" "-" "" "0" "" "" "g.94111579C>T" "" "pathogenic" ""
"0000123629" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Downes 2012:23143460}" "" "2588G>C" "" "Germline" "?" "rs76157638" "0" "" "" "g.94051698C>G" "" "pathogenic" ""
"0000123630" "0" "90" "1" "94577135" "94577135" "subst" "2.43718E-5" "01695" "ABCA4_000240" "g.94577135C>T" "2, 121210, 0, 0.0000165" "{PMID:Downes 2012:23143460}" "" "161G>A" "" "Germline" "-" "" "0" "" "" "g.94111579C>T" "" "pathogenic" ""
"0000123631" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Downes 2012:23143460}" "" "2588G>C" "" "Germline" "?" "rs76157638" "0" "" "" "g.94051698C>G" "" "pathogenic" ""
"0000123632" "0" "70" "1" "94577135" "94577135" "subst" "2.43718E-5" "01695" "ABCA4_000240" "g.94577135C>T" "2, 121210, 0, 0.0000165" "{PMID:Downes 2012:23143460}" "" "161G>A" "" "Germline" "-" "" "0" "" "" "g.94111579C>T" "" "likely pathogenic" ""
"0000123633" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Downes 2012:23143460}" "" "5882G>A" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "pathogenic" ""
"0000123634" "0" "70" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "14, 120056, 0, 0.0001166" "{PMID:Downes 2012:23143460}" "" "634C>T" "" "Germline" "-" "" "0" "" "" "g.94098928G>A" "" "likely pathogenic" ""
"0000123635" "0" "70" "1" "94495083" "94495083" "subst" "0.000124542" "01695" "ABCA4_000542" "g.94495083G>A" "11, 77176, 0, 0.0001425" "{PMID:Downes 2012:23143460}" "" "4457C>T" "" "Germline" "yes" "" "0" "" "" "g.94029527G>A" "" "likely pathogenic" ""
"0000123636" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Downes 2012:23143460}" "" "2588G>C" "" "Germline" "-" "rs76157638" "0" "" "" "g.94051698C>G" "" "likely pathogenic" ""
"0000123637" "0" "90" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "12, 60116, 0, 0.0001996" "{PMID:Downes 2012:23143460}" "" "4469G>A" "" "Germline" "?" "" "0" "" "" "g.94029515C>T" "" "pathogenic" ""
"0000123638" "0" "90" "1" "94510248" "94510248" "subst" "0.000544123" "01695" "ABCA4_000107" "g.94510248C>G" "87, 121410, 0, 0.0007166" "{PMID:Downes 2012:23143460}" "" "2971G>C" "" "Germline" "-" "" "0" "" "" "g.94044692C>G" "" "pathogenic" ""
"0000123639" "0" "70" "1" "94496084" "94496084" "subst" "0" "01695" "ABCA4_000011" "g.94496084T>C" "" "{PMID:Downes 2012:23143460}" "" "4254-2A>G" "" "Germline" "?" "" "0" "" "" "g.94030528T>C" "" "likely pathogenic" ""
"0000123640" "0" "30" "1" "94510248" "94510248" "subst" "0.000544123" "01695" "ABCA4_000107" "g.94510248C>G" "87, 121410, 0, 0.0007166" "{PMID:Downes 2012:23143460}" "" "2971G>C" "" "Germline" "-" "" "0" "" "" "g.94044692C>G" "" "likely benign" ""
"0000123641" "0" "70" "1" "94505604" "94505604" "subst" "0.00645586" "01695" "ABCA4_000092" "g.94505604A>C" "879, 64452, 44, 0.01364" "{PMID:Downes 2012:23143460}" "" "3602T>G" "" "Germline" "?" "" "0" "" "" "g.94040048A>C" "" "likely pathogenic" ""
"0000123642" "0" "50" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "14, 121282, 0, 0.0001154" "{PMID:Downes 2012:23143460}" "" "3322C>T" "" "Germline" "-" "" "0" "" "" "g.94042767G>A" "" "VUS" ""
"0000123643" "0" "70" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "13, 121216, 0, 0.0001072" "{PMID:Downes 2012:23143460}" "" "768G>T" "" "Germline" "?" "" "0" "" "" "g.94098794C>A" "" "likely pathogenic" ""
"0000123644" "0" "70" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "14, 121282, 0, 0.0001154" "{PMID:Downes 2012:23143460}" "" "3322C>T" "" "Germline" "-" "" "0" "" "" "g.94042767G>A" "" "likely pathogenic" ""
"0000123645" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "26, 121404, 0, 0.0002142" "{PMID:Downes 2012:23143460}" "" "6079C>T" "" "Germline" "?" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic" ""
"0000123646" "0" "70" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "30, 121388, 0, 0.0002471" "{PMID:Downes 2012:23143460}" "" "3386G>T" "" "Germline" "-" "" "0" "" "" "g.94041345C>A" "" "likely pathogenic" ""
"0000123647" "0" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "12, 60116, 0, 0.0001996" "{PMID:Downes 2012:23143460}" "" "4469G>A" "" "Germline" "yes" "" "0" "" "" "g.94029515C>T" "" "likely pathogenic" ""
"0000123648" "0" "90" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "24, 119274, 0, 0.0002012" "{PMID:Downes 2012:23143460}" "" "4139C>T" "" "Germline" "-" "" "0" "" "" "g.94031110G>A" "" "pathogenic" ""
"0000123649" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "42, 120772, 0, 0.0003478" "{PMID:Downes 2012:23143460}" "" "5714+5G>A" "" "Germline" "?" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic" ""
"0000123650" "3" "70" "1" "94495083" "94495083" "subst" "0.000124542" "01695" "ABCA4_000542" "g.94495083G>A" "11, 77176, 0, 0.0001425" "{PMID:Downes 2012:23143460}" "" "4457C>T" "" "Germline" "yes" "" "0" "" "" "g.94029527G>A" "" "likely pathogenic" ""
"0000123651" "0" "70" "1" "94495009" "94495009" "dup" "0" "01695" "ABCA4_000087" "g.94495009dup" "" "{PMID:Downes 2012:23143460}" "" "4537dupC" "" "Germline" "-" "" "0" "" "" "g.94029453dup" "" "likely pathogenic" ""
"0000123652" "0" "90" "1" "94466480" "94466480" "subst" "4.06088E-6" "01695" "ABCA4_000827" "g.94466480C>T" "" "{PMID:Downes 2012:23143460}" "" "6391G>A" "" "Germline" "yes" "" "0" "" "" "g.94000924C>T" "" "pathogenic" ""
"0000123653" "3" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "26, 121404, 0, 0.0002142" "{PMID:Downes 2012:23143460}" "" "6079C>T" "" "Germline" "yes" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic" ""
"0000123654" "0" "70" "1" "94486794" "94486794" "subst" "0" "01695" "ABCA4_000478" "g.94486794A>G" "" "{PMID:Downes 2012:23143460}" "" "5018+2T>C" "" "Germline" "-" "" "0" "" "" "g.94021238A>G" "" "likely pathogenic" ""
"0000123655" "0" "90" "1" "94466628" "94466628" "subst" "0.000109748" "01695" "ABCA4_000094" "g.94466628G>A" "14, 121222, 0, 0.0001155" "{PMID:Downes 2012:23143460}" "" "6316C>T" "" "Germline" "?" "" "0" "" "" "g.94001072G>A" "" "pathogenic" ""
"0000123656" "0" "70" "1" "94486794" "94486794" "subst" "0" "01695" "ABCA4_000478" "g.94486794A>G" "" "{PMID:Downes 2012:23143460}" "" "5018+2T>C" "" "Germline" "-" "" "0" "" "" "g.94021238A>G" "" "likely pathogenic" ""
"0000123657" "0" "90" "1" "94466628" "94466628" "subst" "0.000109748" "01695" "ABCA4_000094" "g.94466628G>A" "14, 121222, 0, 0.0001155" "{PMID:Downes 2012:23143460}" "" "6316C>T" "" "Germline" "?" "" "0" "" "" "g.94001072G>A" "" "pathogenic" ""
"0000123658" "0" "70" "1" "94510215" "94510215" "subst" "1.21818E-5" "01695" "ABCA4_000666" "g.94510215G>A" "2, 121402, 0, 0.00001647" "{PMID:Downes 2012:23143460}" "" "3004C>T" "" "Germline" "-" "" "0" "" "" "g.94044659G>A" "" "likely pathogenic" ""
"0000123659" "0" "70" "1" "94526296" "94526296" "subst" "1.64555E-5" "01695" "ABCA4_000768" "g.94526296G>A" "1, 96614, 0, 0.00001035" "{PMID:Downes 2012:23143460}" "" "1957C>T" "" "Germline" "?" "" "0" "" "" "g.94060740G>A" "" "likely pathogenic" ""
"0000123660" "0" "90" "1" "94544249" "94544249" "subst" "8.12196E-6" "01695" "ABCA4_000323" "g.94544249A>G" "" "{PMID:Downes 2012:23143460}" "" "1253T>C" "" "Germline" "-" "" "0" "" "" "g.94078693A>G" "" "pathogenic" ""
"0000123661" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Downes 2012:23143460}" "" "2588G>C" "" "Germline" "?" "rs76157638" "0" "" "" "g.94051698C>G" "" "likely pathogenic" ""
"0000123662" "0" "70" "1" "94463437" "94463437" "subst" "0" "01695" "ABCA4_000796" "g.94463437T>G" "" "{PMID:Downes 2012:23143460}" "" "6709A>C" "" "Germline" "-" "" "0" "" "" "g.93997881T>G" "" "likely pathogenic" ""
"0000123663" "0" "70" "1" "94509018" "94509018" "subst" "8.12869E-6" "01695" "ABCA4_000659" "g.94509018C>T" "1, 121086, 0, 0.000008259" "{PMID:Downes 2012:23143460}" "" "3064G>A" "" "Germline" "?" "" "0" "" "" "g.94043462C>T" "" "likely pathogenic" ""
"0000123664" "0" "70" "1" "94463437" "94463437" "subst" "0" "01695" "ABCA4_000796" "g.94463437T>G" "" "{PMID:Downes 2012:23143460}" "" "6709A>C" "" "Germline" "-" "" "0" "" "" "g.93997881T>G" "" "likely pathogenic" ""
"0000123665" "0" "70" "1" "94509018" "94509018" "subst" "8.12869E-6" "01695" "ABCA4_000659" "g.94509018C>T" "1, 121086, 0, 0.000008259" "{PMID:Downes 2012:23143460}" "" "3064G>A" "" "Germline" "?" "" "0" "" "" "g.94043462C>T" "" "likely pathogenic" ""
"0000123666" "0" "70" "1" "94481347" "94481347" "subst" "0" "01695" "ABCA4_000455" "g.94481347A>C" "" "{PMID:Downes 2012:23143460}" "" "5260T>G" "" "Germline" "-" "" "0" "" "" "g.94015791A>C" "" "likely pathogenic" ""
"0000123667" "0" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "12, 60116, 0, 0.0001996" "{PMID:Downes 2012:23143460}" "" "4469G>A" "" "Germline" "?" "" "0" "" "" "g.94029515C>T" "" "likely pathogenic" ""
"0000123668" "0" "70" "1" "94568590" "94568590" "subst" "0" "01695" "ABCA4_000204" "g.94568590G>A" "" "{PMID:Downes 2012:23143460}" "" "551C>T" "" "Germline" "-" "" "0" "" "" "g.94103034G>A" "" "likely pathogenic" ""
"0000123669" "0" "70" "1" "94487251" "94487251" "subst" "2.85679E-5" "01695" "ABCA4_000490" "g.94487251G>T" "3, 113672, 0, 0.00002639" "{PMID:Downes 2012:23143460}" "" "4793C>A" "" "Germline" "?" "" "0" "" "" "g.94021695G>T" "" "likely pathogenic" ""
"0000123670" "0" "70" "1" "94568590" "94568590" "subst" "0" "01695" "ABCA4_000204" "g.94568590G>A" "" "{PMID:Downes 2012:23143460}" "" "551C>T" "" "Germline" "-" "" "0" "" "" "g.94103034G>A" "" "likely pathogenic" ""
"0000123671" "0" "70" "1" "94487251" "94487251" "subst" "2.85679E-5" "01695" "ABCA4_000490" "g.94487251G>T" "3, 113672, 0, 0.00002639" "{PMID:Downes 2012:23143460}" "" "4793C>A" "" "Germline" "?" "" "0" "" "" "g.94021695G>T" "" "likely pathogenic" ""
"0000123672" "0" "70" "1" "94568590" "94568591" "delins" "0" "01695" "ABCA4_000205" "g.94568590_94568591delinsCG" "" "{PMID:Downes 2012:23143460}" "" "550-551TC>CG" "" "Germline" "-" "" "0" "" "" "g.94103034_94103035delinsCG" "" "likely pathogenic" ""
"0000123673" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Downes 2012:23143460}" "" "5882G>A" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000123674" "0" "70" "1" "94568590" "94568591" "delins" "0" "01695" "ABCA4_000205" "g.94568590_94568591delinsCG" "" "{PMID:Downes 2012:23143460}" "" "550-551TC>CG" "" "Germline" "-" "" "0" "" "" "g.94103034_94103035delinsCG" "" "likely pathogenic" ""
"0000123675" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Downes 2012:23143460}" "" "5882G>A" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000123676" "0" "70" "1" "94480249" "94480249" "subst" "0" "01695" "ABCA4_000449" "g.94480249G>C" "" "{PMID:Downes 2012:23143460}" "" "5313-3C>G" "" "Germline" "-" "" "0" "" "" "g.94014693G>C" "" "likely pathogenic" ""
"0000123677" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Downes 2012:23143460}" "" "5882G>A" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000123678" "0" "50" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Downes 2012:23143460}" "" "2588G>C" "" "Germline" "-" "rs76157638" "0" "" "" "g.94051698C>G" "" "VUS" ""
"0000123679" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Downes 2012:23143460}" "" "5461-10T>C" "" "Germline" "?" "" "0" "" "" "g.94011395A>G" "" "pathogenic" ""
"0000123680" "0" "50" "1" "94476865" "94476865" "subst" "2.03107E-5" "01695" "ABCA4_000430" "g.94476865A>G" "3, 121186, 0, 0.00002476" "{PMID:Downes 2012:23143460}" "" "5537T>C" "" "Germline" "-" "" "0" "" "" "g.94011309A>G" "" "VUS" ""
"0000123681" "0" "70" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Downes 2012:23143460}" "" "5461-10T>C" "" "Germline" "yes" "" "0" "" "" "g.94011395A>G" "" "likely pathogenic" ""
"0000123682" "0" "50" "1" "94471055" "94471055" "subst" "0.00035346" "01695" "ABCA4_000029" "g.94471055C>T" "47, 121404, 1, 0.0003871" "{PMID:Downes 2012:23143460}" "" "6089G>A" "" "Germline" "-" "" "0" "" "" "g.94005499C>T" "" "VUS" ""
"0000123683" "0" "70" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Downes 2012:23143460}" "" "5461-10T>C" "" "Germline" "yes" "" "0" "" "" "g.94011395A>G" "" "likely pathogenic" ""
"0000123684" "0" "90" "1" "94461752" "94461752" "subst" "0" "01695" "ABCA4_000849" "g.94461752C>G" "" "{PMID:Downes 2012:23143460}" "" "6730-1G>C" "" "Germline" "-" "" "0" "" "" "g.93996196C>G" "" "pathogenic" ""
"0000123685" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Downes 2012:23143460}" "" "2588G>C" "" "Germline" "?" "rs76157638" "0" "" "" "g.94051698C>G" "" "pathogenic" ""
"0000123686" "0" "70" "1" "94508354" "94508354" "subst" "0" "01695" "ABCA4_000634" "g.94508354T>A" "" "{PMID:Downes 2012:23143460}" "" "3291A>T" "" "Germline" "-" "" "0" "" "" "g.94042798T>A" "" "likely pathogenic" ""
"0000123687" "0" "70" "1" "94509026" "94509026" "subst" "4.06497E-5" "01695" "ABCA4_000660" "g.94509026G>A" "5, 120988, 0, 0.00004133" "{PMID:Downes 2012:23143460}" "" "3056C>T" "" "Germline" "?" "" "0" "" "" "g.94043470G>A" "" "likely pathogenic" ""
"0000123688" "0" "50" "1" "94486836" "94486836" "del" "0" "01695" "ABCA4_000481" "g.94486836del" "" "{PMID:Downes 2012:23143460}" "" "498delT" "" "Germline" "-" "" "0" "" "" "g.94021280del" "" "VUS" ""
"0000123689" "0" "50" "1" "94522194" "94522194" "subst" "0" "01695" "ABCA4_000733" "g.94522194C>T" "" "{PMID:Downes 2012:23143460}" "" "2345G>A" "" "Germline" "-" "" "0" "" "" "g.94056638C>T" "" "VUS" ""
"0000123690" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Downes 2012:23143460}" "" "2588G>C" "" "Germline" "-" "rs76157638" "0" "" "" "g.94051698C>G" "" "likely pathogenic" ""
"0000123691" "0" "90" "1" "94496010" "94496010" "subst" "1.62434E-5" "01695" "ABCA4_000549" "g.94496010G>T" "3, 121366, 0, 0.00002472" "{PMID:Downes 2012:23143460}" "" "4326C>A" "" "Germline" "?" "" "0" "" "" "g.94030454G>T" "" "pathogenic" ""
"0000123692" "0" "50" "1" "94510253" "94510253" "subst" "0.000247694" "01695" "ABCA4_000108" "g.94510253A>G" "36, 121412, 0, 0.0002965" "{PMID:Downes 2012:23143460}" "" "2966T>C" "" "Germline" "-" "" "0" "" "" "g.94044697A>G" "" "VUS" ""
"0000123693" "0" "50" "1" "94506923" "94506923" "subst" "2.43657E-5" "01695" "ABCA4_000012" "g.94506923C>T" "3, 121394, 0, 0.00002471" "{PMID:Downes 2012:23143460}" "" "3364G>A" "" "Germline" "-" "" "0" "" "" "g.94041367C>T" "" "VUS" ""
"0000123694" "0" "50" "1" "94506923" "94506923" "subst" "2.43657E-5" "01695" "ABCA4_000012" "g.94506923C>T" "3, 121394, 0, 0.00002471" "{PMID:Downes 2012:23143460}" "" "3364G>A" "" "Germline" "-" "" "0" "" "" "g.94041367C>T" "" "VUS" ""
"0000123695" "0" "30" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "12, 60116, 0, 0.0001996" "{PMID:Downes 2012:23143460}" "" "4469G>A" "" "Germline" "-" "" "0" "" "" "g.94029515C>T" "" "likely benign" ""
"0000123696" "0" "70" "1" "94568686" "94568686" "subst" "0.00258122" "01695" "ABCA4_000212" "g.94568686C>T" "290, 120866, 1, 0.002399" "{PMID:Downes 2012:23143460}" "" "455G>A" "" "Germline" "?" "" "0" "" "" "g.94103130C>T" "" "likely pathogenic" ""
"0000123697" "0" "70" "1" "94466422" "94466422" "subst" "2.43651E-5" "01695" "ABCA4_000817" "g.94466422C>T" "3, 121398, 0, 0.00002471" "{PMID:Downes 2012:23143460}" "" "6449G>A" "" "Germline" "-" "" "0" "" "" "g.94000866C>T" "" "likely pathogenic" ""
"0000123698" "0" "70" "1" "94496010" "94496010" "subst" "1.62434E-5" "01695" "ABCA4_000549" "g.94496010G>T" "3, 121366, 0, 0.00002472" "{PMID:Downes 2012:23143460}" "" "4326C>A" "" "Germline" "?" "" "0" "" "" "g.94030454G>T" "" "likely pathogenic" ""
"0000123699" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "24, 119274, 0, 0.0002012" "{PMID:Downes 2012:23143460}" "" "4139C>T" "" "Germline" "-" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic" ""
"0000123700" "0" "70" "1" "94495078" "94495078" "subst" "8.37044E-6" "01695" "ABCA4_000042" "g.94495078A>G" "1, 70400, 0, 0.0000142" "{PMID:Downes 2012:23143460}" "" "4462T>C" "" "Germline" "?" "" "0" "" "" "g.94029522A>G" "" "likely pathogenic" ""
"0000123701" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "24, 119274, 0, 0.0002012" "{PMID:Downes 2012:23143460}" "" "4139C>T" "" "Germline" "-" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic" ""
"0000123702" "0" "70" "1" "94495078" "94495078" "subst" "8.37044E-6" "01695" "ABCA4_000042" "g.94495078A>G" "1, 70400, 0, 0.0000142" "{PMID:Downes 2012:23143460}" "" "4462T>C" "" "Germline" "?" "" "0" "" "" "g.94029522A>G" "" "likely pathogenic" ""
"0000123703" "0" "90" "1" "94490567" "94490567" "subst" "5.68528E-5" "01695" "ABCA4_000026" "g.94490567G>A" "4, 121406, 0, 0.00003295" "{PMID:Downes 2012:23143460}" "" "4577C>T" "" "Germline" "-" "" "0" "" "" "g.94025011G>A" "" "pathogenic" ""
"0000123704" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "42, 120772, 0, 0.0003478" "{PMID:Downes 2012:23143460}" "" "5714+5G>A" "" "Germline" "?" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic" ""
"0000123705" "0" "90" "1" "94471026" "94471026" "subst" "1.21925E-5" "01695" "ABCA4_000791" "g.94471026G>A" "2, 121394, 0, 0.00001648" "{PMID:Downes 2012:23143460}" "" "6118C>T" "" "Germline" "-" "" "0" "" "" "g.94005470G>A" "" "pathogenic" ""
"0000123706" "0" "90" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "42, 120772, 0, 0.0003478" "{PMID:Downes 2012:23143460}" "" "5714+5G>A" "" "Germline" "?" "" "0" "" "" "g.94010795C>T" "" "pathogenic" ""
"0000123707" "0" "70" "1" "94487505" "94487505" "subst" "4.06349E-6" "01695" "ABCA4_000507" "g.94487505T>C" "" "{PMID:Downes 2012:23143460}" "" "4670A>G" "" "Germline" "-" "" "0" "" "" "g.94021949T>C" "" "likely pathogenic" ""
"0000123708" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "24, 119274, 0, 0.0002012" "{PMID:Downes 2012:23143460}" "" "4139C>T" "" "Germline" "?" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic" ""
"0000123709" "0" "70" "1" "94487505" "94487505" "subst" "4.06349E-6" "01695" "ABCA4_000507" "g.94487505T>C" "" "{PMID:Downes 2012:23143460}" "" "4670A>G" "" "Germline" "-" "" "0" "" "" "g.94021949T>C" "" "likely pathogenic" ""
"0000123710" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "24, 119274, 0, 0.0002012" "{PMID:Downes 2012:23143460}" "" "4139C>T" "" "Germline" "?" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic" ""
"0000123711" "0" "70" "1" "94480241" "94480241" "subst" "0" "01695" "ABCA4_000447" "g.94480241G>T" "" "{PMID:Downes 2012:23143460}" "" "5318C>A" "" "Germline" "-" "" "0" "" "" "g.94014685G>T" "" "likely pathogenic" ""
"0000123712" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "26, 121404, 0, 0.0002142" "{PMID:Downes 2012:23143460}" "" "6079C>T" "" "Germline" "?" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic" ""
"0000123713" "0" "50" "1" "94564463" "94564463" "subst" "0" "01695" "ABCA4_000381" "g.94564463T>A" "" "{PMID:Downes 2012:23143460}" "" "655A>T" "" "Germline" "-" "" "0" "" "" "g.94098907T>A" "" "VUS" ""
"0000123714" "0" "50" "1" "94564463" "94564463" "subst" "0" "01695" "ABCA4_000381" "g.94564463T>A" "" "{PMID:Downes 2012:23143460}" "" "655A>T" "" "Germline" "-" "" "0" "" "" "g.94098907T>A" "" "VUS" ""
"0000123715" "0" "50" "1" "94512565" "94512565" "subst" "0.030364" "01695" "ABCA4_000002" "g.94512565C>T" "3722, 121196, 87, 0.03071" "{PMID:Downes 2012:23143460}" "" "2828G>A" "" "Germline" "-" "" "0" "" "" "g.94047009C>T" "" "VUS" ""
"0000123716" "0" "70" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "13, 121216, 0, 0.0001072" "{PMID:Downes 2012:23143460}" "" "768G>T" "" "Germline" "-" "" "0" "" "" "g.94098794C>A" "" "likely pathogenic" ""
"0000123717" "0" "50" "1" "94466625" "94466625" "subst" "1.62559E-5" "01695" "ABCA4_000839" "g.94466625G>A" "2, 121244, 0, 0.0000165" "{PMID:Downes 2012:23143460}" "" "6319C>T" "" "Germline" "?" "" "0" "" "" "g.94001069G>A" "" "VUS" ""
"0000123718" "0" "70" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "13, 121216, 0, 0.0001072" "{PMID:Downes 2012:23143460}" "" "768G>T" "" "Germline" "-" "" "0" "" "" "g.94098794C>A" "" "likely pathogenic" ""
"0000123719" "0" "50" "1" "94466625" "94466625" "subst" "1.62559E-5" "01695" "ABCA4_000839" "g.94466625G>A" "2, 121244, 0, 0.0000165" "{PMID:Downes 2012:23143460}" "" "6319C>T" "" "Germline" "?" "" "0" "" "" "g.94001069G>A" "" "VUS" ""
"0000123720" "0" "50" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Downes 2012:23143460}" "" "2588G>C" "" "Germline" "-" "rs76157638" "0" "" "" "g.94051698C>G" "" "VUS" ""
"0000123721" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Downes 2012:23143460}" "" "5461-10T>C" "" "Germline" "?" "" "0" "" "" "g.94011395A>G" "" "pathogenic" ""
"0000123722" "0" "50" "1" "94480178" "94480178" "subst" "2.43692E-5" "01695" "ABCA4_000005" "g.94480178G>T" "3, 121408, 0, 0.00002471" "{PMID:Downes 2012:23143460}" "" "5381C>T, Ala1794Asp" "" "Germline" "-" "" "0" "" "" "g.94014622G>T" "" "VUS" ""
"0000123723" "0" "50" "1" "94487490" "94487490" "subst" "0.00122268" "01695" "ABCA4_000506" "g.94487490A>G" "158, 121114, 0, 0.001305" "{PMID:Downes 2012:23143460}" "" "4685T>C" "On its own not significantely found more often in published STGD compared to ExAC (p-value 0.92). However, together with other non-significant variants published related to STGD, they are significantly more often in STGD patients (p-value <0.01)." "Germline" "-" "" "0" "" "" "g.94021934A>G" "" "VUS" ""
"0000123724" "0" "70" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Downes 2012:23143460}" "" "5461-10T>C" "" "Germline" "-" "" "0" "" "" "g.94011395A>G" "" "likely pathogenic" ""
"0000123725" "0" "50" "1" "94528702" "94528702" "subst" "1.62468E-5" "01695" "ABCA4_000293" "g.94528702C>G" "1, 121412, 0, 0.000008236" "{PMID:Downes 2012:23143460}" "" "D576H" "" "Germline" "?" "" "0" "" "" "g.94063146C>G" "" "VUS" ""
"0000123726" "0" "70" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "21, 121302, 0, 0.0001731" "{PMID:Rossi 2012:23341817}" "" "N965S" "" "Germline" "-" "" "0" "" "" "g.94046943T>C" "" "likely pathogenic" ""
"0000123727" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Rossi 2012:23341817}" "" "G1961E" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000123728" "0" "50" "1" "94564549" "94564549" "subst" "0" "01695" "ABCA4_000199" "g.94564549T>A" "1, 95836, 0, 0.00001043" "{PMID:Rossi 2012:23341817}" "" "c.571–2A>T" "" "Germline" "-" "" "0" "" "" "g.94098993T>A" "" "VUS" ""
"0000123729" "0" "50" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "173, 121304, 0, 0.001426" "{PMID:Rossi 2012:23341817}" "" "A1038V" "" "Germline" "-" "" "0" "" "" "g.94043413G>A" "" "VUS" ""
"0000123730" "0" "70" "1" "94487399" "94487399" "subst" "7.30959E-5" "01695" "ABCA4_000038" "g.94487399T>C" "14, 121126, 0, 0.0001156" "{PMID:Jonsson 2013:23443024}" "" "c.4773+3A>G" "" "Germline" "-" "" "0" "" "" "g.94021843T>C" "" "likely pathogenic" ""
"0000123731" "1" "50" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Jonsson 2013:23443024}" "" "c.5461-10T>C, c.5603A>T" "" "Germline" "?" "" "0" "" "" "g.94011395A>G" "" "VUS" ""
"0000123732" "1" "90" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Jonsson 2013:23443024}" "" "c.5461-10T>C, c.5603A>T" "" "Germline" "?" "" "0" "" "" "g.94010911T>A" "" "pathogenic" ""
"0000123733" "3" "50" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Jonsson 2013:23443024}" "" "c.5461-10T>C, c.5603A>T" "" "Germline" "yes" "" "0" "" "" "g.94011395A>G" "" "VUS" ""
"0000123734" "3" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Jonsson 2013:23443024}" "" "c.5461-10T>C, c.5603A>T" "" "Germline" "yes" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic" ""
"0000123735" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "13, 121216, 0, 0.0001072" "{PMID:Fujinami 2013:23499370}" "" "c.768G>T" "" "Germline" "-" "" "0" "" "" "g.94098794C>A" "" "pathogenic" ""
"0000123736" "0" "50" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Fujinami 2013:23499370}" "" "p.Gly863Ala" "" "Germline" "?" "rs76157638" "0" "" "" "g.94051698C>G" "" "VUS" ""
"0000123737" "0" "50" "1" "94496008" "94496008" "subst" "2.03056E-5" "01695" "ABCA4_000148" "g.94496008C>T" "3, 121360, 0, 0.00002472" "{PMID:Fujinami 2013:23499370}" "" "p.Arg1443His" "" "Germline" "-" "" "0" "" "" "g.94030452C>T" "" "VUS" ""
"0000123738" "0" "90" "1" "94544185" "94544185" "subst" "8.12137E-6" "01695" "ABCA4_000177" "g.94544185C>T" "1, 121412, 0, 0.000008236" "{PMID:Fujinami 2013:23499370}" "" "p.Trp439*" "" "Germline" "-" "" "0" "" "" "g.94078629C>T" "" "pathogenic" ""
"0000123739" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Fujinami 2013:23499370}" "" "p.Gly863Ala" "" "Germline" "?" "rs76157638" "0" "" "" "g.94051698C>G" "" "pathogenic" ""
"0000123740" "0" "50" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "26, 121404, 0, 0.0002142" "{PMID:Fujinami 2013:23499370}" "" "p.Leu2027Phe" "" "Germline" "-" "" "0" "" "" "g.94005509G>A" "" "VUS" ""
"0000123741" "1" "50" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Fujinami 2013:23499370}" "" "p.Gly863Ala, c.5461-10T>C" "" "Germline" "-" "rs76157638" "0" "" "" "g.94051698C>G" "" "VUS" ""
"0000123742" "1" "50" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Fujinami 2013:23499370}" "" "p.Gly863Ala, c.5461-10T>C" "" "Germline" "-" "" "0" "" "" "g.94011395A>G" "" "VUS" ""
"0000123743" "0" "50" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "24, 119274, 0, 0.0002012" "{PMID:Fujinami 2013:23499370}" "" "p.Pro1380Leu" "" "Germline" "-" "" "0" "" "" "g.94031110G>A" "" "VUS" ""
"0000123744" "0" "70" "1" "94544249" "94544249" "subst" "8.12196E-6" "01695" "ABCA4_000323" "g.94544249A>G" "" "{PMID:Fujinami 2013:23499370}" "" "p.Phe418Ser" "" "Germline" "-" "" "0" "" "" "g.94078693A>G" "" "likely pathogenic" ""
"0000123745" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "26, 121404, 0, 0.0002142" "{PMID:Fujinami 2013:23499370}" "" "p.Leu2027Phe" "" "Germline" "?" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic" ""
"0000123746" "0" "70" "1" "94496547" "94496547" "subst" "4.06345E-6" "01695" "ABCA4_000559" "g.94496547C>A" "1, 120798, 0, 0.000008278" "{PMID:Fujinami 2013:23499370}" "" "c.4253+5G>T" "" "Germline" "-" "" "0" "" "" "g.94030991C>A" "" "likely pathogenic" ""
"0000123747" "0" "50" "1" "94495021" "94495021" "subst" "0.000161713" "01695" "ABCA4_000538" "g.94495021C>T" "3, 22706, 0, 0.0001321" "{PMID:Fujinami 2013:23499370}" "" "p.Gly1507Arg" "" "Germline" "?" "" "0" "" "" "g.94029465C>T" "" "VUS" ""
"0000123748" "0" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "12, 60116, 0, 0.0001996" "{PMID:Fujinami 2013:23499370}, {PMID:Fujinami 2013:23982839}" "" "p.Cys1490Tyr" "" "Germline" "-" "" "0" "" "" "g.94029515C>T" "" "likely pathogenic" ""
"0000123749" "0" "70" "1" "94471055" "94471055" "subst" "0.00035346" "01695" "ABCA4_000029" "g.94471055C>T" "47, 121404, 1, 0.0003871" "{PMID:Fujinami 2013:23499370}, {PMID:Fujinami 2013:23982839}" "" "p.Arg2030Gln" "" "Germline" "?" "" "0" "" "" "g.94005499C>T" "" "likely pathogenic" ""
"0000123750" "0" "50" "1" "94577010" "94577010" "subst" "4.06679E-6" "01695" "ABCA4_000225" "g.94577010T>G" "" "{PMID:Fujinami 2013:23499370}" "" "p.Asn96His" "" "Germline" "-" "" "0" "" "" "g.94111454T>G" "" "VUS" ""
"0000123751" "0" "50" "1" "94495009" "94495009" "dup" "0" "01695" "ABCA4_000087" "g.94495009dup" "" "{PMID:Fujinami 2013:23499370}" "" "p.Gly1513Profs*1554" "" "Germline" "-" "" "0" "" "" "g.94029453dup" "" "VUS" ""
"0000123752" "0" "50" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "227, 121250, 3, 0.001872" "{PMID:Fujinami 2013:23499370}" "" "p.Arg2107His" "" "Germline" "-" "" "0" "" "" "g.94001068C>T" "" "VUS" ""
"0000123753" "0" "90" "1" "94577135" "94577135" "subst" "2.43718E-5" "01695" "ABCA4_000240" "g.94577135C>T" "2, 121210, 0, 0.0000165" "{PMID:Fujinami 2013:23499370}" "" "p.Cys54Tyr" "" "Germline" "-" "" "0" "" "" "g.94111579C>T" "" "pathogenic" ""
"0000123754" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "24, 119274, 0, 0.0002012" "{PMID:Fujinami 2013:23499370}" "" "p.Pro1380Leu" "" "Germline" "-" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic" ""
"0000123755" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Fujinami 2013:23499370}" "" "p.Gly1961Glu" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000123756" "0" "50" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "14, 121282, 0, 0.0001154" "{PMID:Fujinami 2013:23499370}" "" "p.Arg1108Cys" "" "Germline" "-" "" "0" "" "" "g.94042767G>A" "" "VUS" ""
"0000123757" "0" "90" "1" "94544185" "94544185" "subst" "8.12137E-6" "01695" "ABCA4_000177" "g.94544185C>T" "1, 121412, 0, 0.000008236" "{PMID:Fujinami 2013:23499370}" "" "p.Trp439*" "" "Germline" "-" "" "0" "" "" "g.94078629C>T" "" "pathogenic" ""
"0000123758" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Fujinami 2013:23499370}" "" "p.Gly863Ala" "" "Germline" "?" "rs76157638" "0" "" "" "g.94051698C>G" "" "pathogenic" ""
"0000123759" "0" "70" "1" "94476886" "94476886" "subst" "4.06227E-6" "01695" "ABCA4_000433" "g.94476886A>G" "" "{PMID:Fujinami 2013:23499370}" "" "p.Phe1839Ser" "" "Germline" "-" "" "0" "" "" "g.94011330A>G" "" "likely pathogenic" ""
"0000123760" "0" "70" "1" "94495177" "94495177" "subst" "1.22342E-5" "01695" "ABCA4_000023" "g.94495177A>G" "2, 109474, 0, 0.00001827" "{PMID:Fujinami 2013:23499370}" "" "p.Cys1455Arg" "" "Germline" "?" "" "0" "" "" "g.94029621A>G" "" "likely pathogenic" ""
"0000123761" "0" "50" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "227, 121250, 3, 0.001872" "{PMID:Fujinami 2013:23499370}" "" "p.Arg2107His" "" "Germline" "-" "" "0" "" "" "g.94001068C>T" "" "VUS" ""
"0000123762" "0" "50" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Fujinami 2013:23499370}" "" "p.Gly863Ala" "" "Germline" "-" "rs76157638" "0" "" "" "g.94051698C>G" "" "VUS" ""
"0000123763" "0" "50" "1" "94486858" "94486858" "subst" "0" "01695" "ABCA4_000482" "g.94486858A>C" "" "{PMID:Fujinami 2013:23499370}" "" "p.Tyr1652*" "" "Germline" "-" "" "0" "" "" "g.94021302A>C" "" "VUS" ""
"0000123764" "0" "50" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Fujinami 2013:23499370}" "" "c.5461-10T>C" "" "Germline" "-" "" "0" "" "" "g.94011395A>G" "" "VUS" ""
"0000123765" "0" "50" "1" "94508435" "94508436" "dup" "0" "01695" "ABCA4_000998" "g.94508435_94508436dup" "" "{PMID:Fujinami 2013:23499370}" "" "p.Ser1071Cysfs*1084" "" "Germline" "-" "" "0" "" "" "g.94042879_94042880dup" "" "VUS" ""
"0000123766" "0" "70" "1" "94544895" "94544895" "subst" "1.62455E-5" "01695" "ABCA4_000329" "g.94544895G>A" "3, 121410, 0, 0.00002471" "{PMID:Fujinami 2013:23499370}, {PMID:Fujinami 2013:23982839}" "" "p.Arg408*" "" "Germline" "-" "" "0" "" "" "g.94079339G>A" "" "likely pathogenic" ""
"0000123767" "0" "90" "1" "94526230" "94526230" "subst" "7.32136E-5" "01695" "ABCA4_000760" "g.94526230C>T" "6, 120152, 0, 0.00004994" "{PMID:Fujinami 2013:23499370}, {PMID:Fujinami 2013:23982839}" "" "p.Val675lle" "" "Germline" "?" "" "0" "" "" "g.94060674C>T" "" "pathogenic" ""
"0000123768" "0" "50" "1" "94466422" "94466422" "subst" "2.43651E-5" "01695" "ABCA4_000817" "g.94466422C>T" "3, 121398, 0, 0.00002471" "{PMID:Fujinami 2013:23499370}" "" "p.Cys2150Tyr" "" "Germline" "-" "" "0" "" "" "g.94000866C>T" "" "VUS" ""
"0000123769" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Fujinami 2013:23499370}" "" "p.Gly863Ala" "" "Germline" "-" "rs76157638" "0" "" "" "g.94051698C>G" "" "likely pathogenic" ""
"0000123770" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "14, 121282, 0, 0.0001154" "{PMID:Fujinami 2013:23499370}" "" "p.Arg1108Cys" "" "Germline" "?" "" "0" "" "" "g.94042767G>A" "" "pathogenic" ""
"0000123771" "0" "70" "1" "94526296" "94526296" "subst" "1.64555E-5" "01695" "ABCA4_000768" "g.94526296G>A" "1, 96614, 0, 0.00001035" "{PMID:Fujinami 2013:23499370}" "" "p.Arg653Cys" "" "Germline" "-" "" "0" "" "" "g.94060740G>A" "" "likely pathogenic" ""
"0000123772" "0" "70" "1" "94471055" "94471055" "subst" "0.00035346" "01695" "ABCA4_000029" "g.94471055C>T" "47, 121404, 1, 0.0003871" "{PMID:Fujinami 2013:23499370}" "" "p.Arg2030Gln" "" "Germline" "?" "" "0" "" "" "g.94005499C>T" "" "likely pathogenic" ""
"0000123773" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Fujinami 2013:23499370}" "" "p.Gly863Ala" "" "Germline" "-" "rs76157638" "0" "" "" "g.94051698C>G" "" "likely pathogenic" ""
"0000123774" "0" "90" "1" "94508386" "94508386" "subst" "1.62443E-5" "01695" "ABCA4_000642" "g.94508386C>T" "4, 121376, 0, 0.00003296" "{PMID:Fujinami 2013:23499370}" "" "p.Glu1087Lys" "" "Germline" "?" "" "0" "" "" "g.94042830C>T" "" "pathogenic" ""
"0000123775" "0" "90" "1" "94577135" "94577135" "subst" "2.43718E-5" "01695" "ABCA4_000240" "g.94577135C>T" "2, 121210, 0, 0.0000165" "{PMID:Fujinami 2013:23499370}, {PMID:Fujinami 2013:23982839}" "" "p.Cys54Tyr" "" "Germline" "-" "" "0" "" "" "g.94111579C>T" "" "pathogenic" ""
"0000123776" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Fujinami 2013:23499370}, {PMID:Fujinami 2013:23982839}" "" "p.Gly863Ala" "" "Germline" "?" "rs76157638" "0" "" "" "g.94051698C>G" "" "pathogenic" ""
"0000123777" "0" "50" "1" "94512602" "94512602" "subst" "0.000369717" "01695" "ABCA4_000052" "g.94512602C>T" "59, 120896, 0, 0.000488" "{PMID:Fujinami 2013:23499370}" "" "p.Val931Met" "" "Germline" "-" "" "0" "" "" "g.94047046C>T" "" "VUS" ""
"0000123778" "0" "70" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Fujinami 2013:23499370}" "" "c.5461-10T>C" "" "Germline" "?" "" "0" "" "" "g.94011395A>G" "" "likely pathogenic" ""
"0000123779" "0" "50" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "24, 119274, 0, 0.0002012" "{PMID:Fujinami 2013:23499370}" "" "p.Pro1380Leu" "" "Germline" "-" "" "0" "" "" "g.94031110G>A" "" "VUS" ""
"0000123780" "0" "70" "1" "94508435" "94508436" "dup" "0" "01695" "ABCA4_000998" "g.94508435_94508436dup" "" "{PMID:Fujinami 2013:23499370}" "" "p.Ser1071Cysfs*1084" "" "Germline" "-" "" "0" "" "" "g.94042879_94042880dup" "" "likely pathogenic" ""
"0000123781" "0" "90" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "24, 119274, 0, 0.0002012" "{PMID:Fujinami 2013:23499370}" "" "p.Pro1380Leu" "" "Germline" "?" "" "0" "" "" "g.94031110G>A" "" "pathogenic" ""
"0000123782" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Fujinami 2013:23499370}" "" "c.5461-10T>C" "" "Germline" "-" "" "0" "" "" "g.94011395A>G" "" "pathogenic" ""
"0000123783" "0" "50" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "42, 120772, 0, 0.0003478" "{PMID:Fujinami 2013:23499370}" "" "c.5714+5G>A" "" "Germline" "?" "" "0" "" "" "g.94010795C>T" "" "VUS" ""
"0000123784" "0" "90" "1" "94577135" "94577135" "subst" "2.43718E-5" "01695" "ABCA4_000240" "g.94577135C>T" "2, 121210, 0, 0.0000165" "{PMID:Fujinami 2013:23499370}" "" "p.Cys54Tyr" "" "Germline" "-" "" "0" "" "" "g.94111579C>T" "" "pathogenic" ""
"0000123785" "0" "50" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "21, 121302, 0, 0.0001731" "{PMID:Fujinami 2013:23499370}" "" "p.Asn965Ser" "" "Germline" "-" "" "0" "" "" "g.94046943T>C" "" "VUS" ""
"0000123786" "0" "50" "1" "94509026" "94509026" "subst" "4.06497E-5" "01695" "ABCA4_000660" "g.94509026G>A" "5, 120988, 0, 0.00004133" "{PMID:Fujinami 2013:23499370}" "" "p.Thr1019Met" "" "Germline" "-" "" "0" "" "" "g.94043470G>A" "" "VUS" ""
"0000123787" "0" "50" "1" "94509026" "94509026" "subst" "4.06497E-5" "01695" "ABCA4_000660" "g.94509026G>A" "5, 120988, 0, 0.00004133" "{PMID:Fujinami 2013:23499370}" "" "p.Thr1019Met" "" "Germline" "-" "" "0" "" "" "g.94043470G>A" "" "VUS" ""
"0000123788" "0" "50" "1" "94466422" "94466422" "subst" "2.43651E-5" "01695" "ABCA4_000817" "g.94466422C>T" "3, 121398, 0, 0.00002471" "{PMID:Fujinami 2013:23499370}" "" "p.Cys2150Tyr" "" "Germline" "-" "" "0" "" "" "g.94000866C>T" "" "VUS" ""
"0000123789" "0" "70" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Fujinami 2013:23499370}" "" "c.5461-10T>C" "" "Germline" "-" "" "0" "" "" "g.94011395A>G" "" "likely pathogenic" ""
"0000123790" "0" "50" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "26, 121404, 0, 0.0002142" "{PMID:Fujinami 2013:23499370}" "" "p.Leu2027Phe" "" "Germline" "?" "" "0" "" "" "g.94005509G>A" "" "VUS" ""
"0000123791" "0" "70" "1" "94528706" "94528707" "del" "0" "01695" "ABCA4_000294" "g.94528706_94528707del" "" "{PMID:Fujinami 2013:23499370}" "" "p.Asp574Aspfs*582" "" "Germline" "-" "" "0" "" "" "g.94063150_94063151del" "" "likely pathogenic" ""
"0000123792" "0" "50" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Fujinami 2013:23499370}" "" "c.5461-10T>C" "" "Germline" "-" "" "0" "" "" "g.94011395A>G" "" "VUS" ""
"0000123793" "0" "70" "1" "94486896" "94486896" "subst" "3.65562E-5" "01695" "ABCA4_000085" "g.94486896G>A" "1, 121394, 0, 0.000008238" "{PMID:Fujinami 2013:23499370}" "" "p.Arg1640Trp" "" "Germline" "-" "" "0" "" "" "g.94021340G>A" "" "likely pathogenic" ""
"0000123794" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "26, 121404, 0, 0.0002142" "{PMID:Fujinami 2013:23499370}" "" "p.Leu2027Phe" "" "Germline" "?" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic" ""
"0000123795" "0" "50" "1" "94508322" "94508322" "subst" "1.62513E-5" "01695" "ABCA4_000128" "g.94508322C>T" "2, 121288, 0, 0.00001649" "{PMID:Fujinami 2013:23499370}" "" "p.Arg1108His" "" "Germline" "-" "" "0" "" "" "g.94042766C>T" "" "VUS" ""
"0000123796" "0" "70" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Fujinami 2013:23499370}" "" "c.5461-10T>C" "" "Germline" "-" "" "0" "" "" "g.94011395A>G" "" "likely pathogenic" ""
"0000123797" "0" "50" "1" "94466422" "94466422" "subst" "2.43651E-5" "01695" "ABCA4_000817" "g.94466422C>T" "3, 121398, 0, 0.00002471" "{PMID:Fujinami 2013:23499370}" "" "p.Cys2150Tyr" "" "Germline" "?" "" "0" "" "" "g.94000866C>T" "" "VUS" ""
"0000123798" "0" "70" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Fujinami 2013:23499370}" "" "c.5461-10T>C" "" "Germline" "-" "" "0" "" "" "g.94011395A>G" "" "likely pathogenic" ""
"0000123799" "0" "50" "1" "94466422" "94466422" "subst" "2.43651E-5" "01695" "ABCA4_000817" "g.94466422C>T" "3, 121398, 0, 0.00002471" "{PMID:Fujinami 2013:23499370}" "" "p.Cys2150Tyr" "" "Germline" "?" "" "0" "" "" "g.94000866C>T" "" "VUS" ""
"0000123800" "0" "70" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Fujinami 2013:23499370}" "" "c.5461-10T>C" "" "Germline" "-" "" "0" "" "" "g.94011395A>G" "" "likely pathogenic" ""
"0000123801" "0" "50" "1" "94466422" "94466422" "subst" "2.43651E-5" "01695" "ABCA4_000817" "g.94466422C>T" "3, 121398, 0, 0.00002471" "{PMID:Fujinami 2013:23499370}" "" "p.Cys2150Tyr" "" "Germline" "?" "" "0" "" "" "g.94000866C>T" "" "VUS" ""
"0000123802" "0" "50" "1" "94522300" "94522300" "del" "0" "01695" "ABCA4_000744" "g.94522300del" "" "{PMID:Fujinami 2013:23499370}" "" "p.Leu747Cysfs*787" "" "Germline" "-" "" "0" "" "" "g.94056744del" "" "VUS" ""
"0000123803" "0" "50" "1" "94568675" "94568675" "subst" "0.00146249" "01695" "ABCA4_000210" "g.94568675T>C" "159, 120956, 0, 0.001315" "{PMID:Fujinami 2013:23499370}" "" "p.Ile156Val" "On its own not significantely found more often in published STGD compared to ExAC (p-value 0.50). However, together with other non-significant variants published related to STGD, they are significantly more often in STGD patients (p-value <0.01)." "Germline" "-" "" "0" "" "" "g.94103119T>C" "" "VUS" ""
"0000123804" "3" "70" "1" "94480241" "94480241" "subst" "7.71705E-5" "01695" "ABCA4_000446" "g.94480241G>A" "14, 121408, 0, 0.0001153" "{PMID:Chacón-Camacho 2013:23419329}" "" "c.5318C>T" "" "Germline" "?" "" "0" "" "" "g.94014685G>A" "" "likely pathogenic" ""
"0000123805" "0" "70" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "14, 120056, 0, 0.0001166" "{PMID:Chacón-Camacho 2013:23419329}" "" "c.634C>T" "" "Germline" "-" "" "0" "" "" "g.94098928G>A" "" "likely pathogenic" ""
"0000123806" "0" "70" "1" "94480241" "94480241" "subst" "7.71705E-5" "01695" "ABCA4_000446" "g.94480241G>A" "14, 121408, 0, 0.0001153" "{PMID:Chacón-Camacho 2013:23419329}" "" "c.5318C>T" "" "Germline" "?" "" "0" "" "" "g.94014685G>A" "" "likely pathogenic" ""
"0000123807" "0" "70" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "30, 121388, 0, 0.0002471" "{PMID:Chacón-Camacho 2013:23419329}" "" "c.3386G>T" "" "Germline" "-" "" "0" "" "" "g.94041345C>A" "" "likely pathogenic" ""
"0000123808" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "24, 119274, 0, 0.0002012" "{PMID:Chacón-Camacho 2013:23419329}" "" "c.4139C>T" "" "Germline" "?" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic" ""
"0000123809" "3" "70" "1" "94480241" "94480241" "subst" "7.71705E-5" "01695" "ABCA4_000446" "g.94480241G>A" "14, 121408, 0, 0.0001153" "{PMID:Chacón-Camacho 2013:23419329}" "" "c.5318C>T" "" "Germline" "?" "" "0" "" "" "g.94014685G>A" "" "likely pathogenic" ""
"0000123810" "0" "70" "1" "94520801" "94520801" "subst" "0.000211489" "01695" "ABCA4_000724" "g.94520801C>T" "24, 121324, 0, 0.0001978" "{PMID:Chacón-Camacho 2013:23419329}" "" "c.2453G>A" "" "Germline" "-" "" "0" "" "" "g.94055245C>T" "" "likely pathogenic" ""
"0000123811" "0" "70" "1" "94496558" "94496560" "del" "0" "01695" "ABCA4_000561" "g.94496558_94496560del" "" "{PMID:Chacón-Camacho 2013:23419329}" "" "c.4249_4251delTTC" "" "Germline" "?" "" "0" "" "" "g.94031002_94031004del" "" "likely pathogenic" ""
"0000123812" "3" "70" "1" "94480241" "94480241" "subst" "7.71705E-5" "01695" "ABCA4_000446" "g.94480241G>A" "14, 121408, 0, 0.0001153" "{PMID:Chacón-Camacho 2013:23419329}" "" "c.5318C>T" "" "Germline" "?" "" "0" "" "" "g.94014685G>A" "" "likely pathogenic" ""
"0000123813" "0" "90" "1" "94546265" "94546265" "subst" "2.04063E-5" "01695" "ABCA4_000355" "g.94546265G>A" "4, 120876, 0, 0.00003309" "{PMID:Chacón-Camacho 2013:23419329}" "" "c.868C>T" "" "Germline" "-" "" "0" "" "" "g.94080709G>A" "" "pathogenic" ""
"0000123814" "0" "70" "1" "94546033" "94546033" "subst" "0" "01695" "ABCA4_000335" "g.94546033C>T" "" "{PMID:Chacón-Camacho 2013:23419329}" "" "IVS8+1G>A" "" "Germline" "?" "" "0" "" "" "g.94080477C>T" "" "likely pathogenic" ""
"0000123815" "0" "50" "1" "94480241" "94480241" "subst" "7.71705E-5" "01695" "ABCA4_000446" "g.94480241G>A" "14, 121408, 0, 0.0001153" "{PMID:Chacón-Camacho 2013:23419329}" "" "c.5318C>T" "" "Germline" "-" "" "0" "" "" "g.94014685G>A" "" "VUS" ""
"0000123816" "0" "70" "1" "94510178" "94510178" "subst" "0" "01695" "ABCA4_000664" "g.94510178A>C" "" "{PMID:Chacón-Camacho 2013:23419329}" "" "c.3041T>G" "" "Germline" "-" "" "0" "" "" "g.94044622A>C" "" "likely pathogenic" ""
"0000123817" "0" "70" "1" "94586550" "94586550" "subst" "1.21864E-5" "01695" "ABCA4_000037" "g.94586550G>A" "3, 121392, 0, 0.00002471" "{PMID:Chacón-Camacho 2013:23419329}" "" "c.52C>T;" "" "Germline" "?" "" "0" "" "" "g.94120994G>A" "" "likely pathogenic" ""
"0000123818" "1" "70" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Chacón-Camacho 2013:23419329}" "" "1804C>T;2828G>A" "" "Germline" "-" "" "0" "" "" "g.94062710G>A" "" "likely pathogenic" ""
"0000123819" "2" "70" "1" "94520801" "94520801" "subst" "0.000211489" "01695" "ABCA4_000724" "g.94520801C>T" "24, 121324, 0, 0.0001978" "{PMID:Chacón-Camacho 2013:23419329}" "" "c.2453G>A" "" "Germline" "?" "" "0" "" "" "g.94055245C>T" "" "likely pathogenic" ""
"0000123820" "3" "70" "1" "94480235" "94480235" "subst" "8.12236E-6" "01695" "ABCA4_000445" "g.94480235A>T" "1, 121410, 0, 0.000008237" "{PMID:Chacón-Camacho 2013:23419329}" "" "c.5324T>A" "" "Germline" "?" "" "0" "" "" "g.94014679A>T" "" "likely pathogenic" ""
"0000123821" "0" "90" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "5406, 121330, 156, 0.04456" "{PMID:Chacón-Camacho 2013:23419329}" "" "c.5503A>T" "" "Germline" "-" "" "0" "" "" "g.94010911T>A" "" "pathogenic" ""
"0000123822" "0" "30" "1" "94577031" "94577031" "subst" "0" "01695" "ABCA4_000226" "g.94577031C>A" "" "{PMID:Chacón-Camacho 2013:23419329}" "" "c.265G>T" "" "Germline" "?" "" "0" "" "" "g.94111475C>A" "" "likely benign" ""
"0000123823" "3" "70" "1" "94480224" "94480224" "subst" "0" "01695" "ABCA4_000443" "g.94480224A>G" "" "{PMID:Chacón-Camacho 2013:23419329}" "" "c.5335T>C" "" "Germline" "?" "" "0" "" "" "g.94014668A>G" "" "likely pathogenic" ""
"0000123824" "3" "70" "1" "94520801" "94520801" "subst" "0.000211489" "01695" "ABCA4_000724" "g.94520801C>T" "24, 121324, 0, 0.0001978" "{PMID:Chacón-Camacho 2013:23419329}" "" "c.2453G>A" "" "Germline" "?" "" "0" "" "" "g.94055245C>T" "" "likely pathogenic" ""
"0000123825" "0" "70" "1" "94564395" "94564395" "subst" "0" "01695" "ABCA4_000374" "g.94564395T>A" "" "{PMID:Chacón-Camacho 2013:23419329}" "" "c.723A>T" "" "Germline" "-" "" "0" "" "" "g.94098839T>A" "" "likely pathogenic" ""
"0000123826" "0" "70" "1" "94485220" "94485220" "subst" "0.000106324" "01695" "ABCA4_000121" "g.94485220C>T" "8, 103118, 0, 0.00007758" "{PMID:Chacón-Camacho 2013:23419329}" "" "c.5114G>A" "On its own not significantely found more often in published STGD compared to ExAC (p-value 0.56). However, together with other non-significant variants published related to STGD, they are significantly more often in STGD patients (p-value <0.01)." "Germline" "?" "" "0" "" "" "g.94019664C>T" "" "likely pathogenic" ""
"0000123827" "0" "50" "1" "94578618" "94578618" "subst" "0.000166918" "01695" "ABCA4_000252" "g.94578618C>T" "23, 120444, 0, 0.000191" "{PMID:Chacón-Camacho 2013:23419329}" "" "c.71G>A" "" "Germline" "-" "" "0" "" "" "g.94113062C>T" "" "VUS" ""
"0000123828" "0" "50" "1" "94495009" "94495009" "dup" "0" "01695" "ABCA4_000087" "g.94495009dup" "" "{PMID:Chacón-Camacho 2013:23419329}" "" "c.4537_4538insC" "" "Germline" "-" "" "0" "" "" "g.94029453dup" "" "VUS" ""
"0000123829" "3" "90" "1" "94488942" "94488942" "subst" "8.19309E-6" "01695" "ABCA4_000512" "g.94488942C>G" "" "{PMID:Chacón-Camacho 2013:23419329}" "" "c.4667G>C" "" "Germline" "?" "" "0" "" "" "g.94023386C>G" "" "pathogenic" ""
"0000123830" "0" "70" "1" "94467475" "94467475" "subst" "3.65542E-5" "01695" "ABCA4_000171" "g.94467475C>A" "" "{PMID:Chacón-Camacho 2013:23419329}" "" "c.6221G>T" "" "Germline" "-" "" "0" "" "" "g.94001919C>A" "" "likely pathogenic" ""
"0000123831" "0" "70" "1" "94520801" "94520801" "subst" "0.000211489" "01695" "ABCA4_000724" "g.94520801C>T" "24, 121324, 0, 0.0001978" "{PMID:Chacón-Camacho 2013:23419329}" "" "c.2453G>A" "" "Germline" "?" "" "0" "" "" "g.94055245C>T" "" "likely pathogenic" ""
"0000123832" "0" "70" "1" "94520801" "94520801" "subst" "0.000211489" "01695" "ABCA4_000724" "g.94520801C>T" "24, 121324, 0, 0.0001978" "{PMID:Chacón-Camacho 2013:23419329}" "" "c.2453G>A" "" "Germline" "-" "" "0" "" "" "g.94055245C>T" "" "likely pathogenic" ""
"0000123833" "0" "70" "1" "94466561" "94466561" "subst" "8.12288E-6" "01695" "ABCA4_000834" "g.94466561T>C" "1, 121390, 0, 0.000008238" "{PMID:Chacón-Camacho 2013:23419329}" "" "c.6383A>G" "" "Germline" "?" "" "0" "" "" "g.94001005T>C" "" "likely pathogenic" ""
"0000123834" "0" "50" "1" "94520801" "94520801" "subst" "0.000211489" "01695" "ABCA4_000724" "g.94520801C>T" "24, 121324, 0, 0.0001978" "{PMID:Chacón-Camacho 2013:23419329}" "" "c.2453G>A" "" "Germline" "-" "" "0" "" "" "g.94055245C>T" "" "VUS" ""
"0000123835" "0" "50" "1" "94488956" "94488956" "subst" "0" "01695" "ABCA4_000515" "g.94488956C>T" "" "{PMID:Chacón-Camacho 2013:23419329}" "" "c.4653G>A" "" "Germline" "-" "" "0" "" "" "g.94023400C>T" "" "VUS" ""
"0000123836" "0" "50" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "30, 121388, 0, 0.0002471" "{PMID:Chacón-Camacho 2013:23419329}" "" "c.3386G>T" "" "Germline" "-" "" "0" "" "" "g.94041345C>A" "" "VUS" ""
"0000123837" "0" "70" "1" "94485279" "94485293" "del" "0" "01695" "ABCA4_000476" "g.94485279_94485293del" "" "{PMID:Chacón-Camacho 2013:23419329}" "" "c.5045_5059delGTTGCCATCTGCGTG" "" "Germline" "-" "" "0" "" "" "g.94019723_94019737del" "" "likely pathogenic" ""
"0000123838" "0" "70" "1" "94496008" "94496008" "subst" "2.03056E-5" "01695" "ABCA4_000148" "g.94496008C>T" "3, 121360, 0, 0.00002472" "{PMID:Chacón-Camacho 2013:23419329}" "" "c.4328G>A;" "" "Germline" "?" "" "0" "" "" "g.94030452C>T" "" "likely pathogenic" ""
"0000123839" "3" "70" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "21, 121302, 0, 0.0001731" "{PMID:Chacón-Camacho 2013:23419329}" "" "c.2894A>G" "" "Germline" "?" "" "0" "" "" "g.94046943T>C" "" "likely pathogenic" ""
"0000123840" "0" "50" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Heathfield 2013:23695285}" "" "c.5461–10T>C" "" "Germline" "-" "" "0" "" "" "g.94011395A>G" "" "VUS" ""
"0000123841" "0" "50" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "13, 121216, 0, 0.0001072" "{PMID:Heathfield 2013:23695285}" "" "c.768G>T" "" "Germline" "?" "" "0" "" "" "g.94098794C>A" "" "VUS" ""
"0000123842" "3" "50" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Heathfield 2013:23695285}" "" "c.5461–10T>C" "" "Germline" "?" "" "0" "" "" "g.94011395A>G" "" "VUS" ""
"0000123843" "3" "50" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Heathfield 2013:23695285}" "" "c.5461–10T>C" "" "Germline" "?" "" "0" "" "" "g.94011395A>G" "" "VUS" ""
"0000123844" "0" "50" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "6, 119038, 0, 0.0000504" "{PMID:Heathfield 2013:23695285}" "" "c.1804C>T" "" "Germline" "-" "" "0" "" "" "g.94062710G>A" "" "VUS" ""
"0000123845" "0" "70" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "13, 121216, 0, 0.0001072" "{PMID:Heathfield 2013:23695285}" "" "c.768G>T" "" "Germline" "?" "" "0" "" "" "g.94098794C>A" "" "likely pathogenic" ""
"0000123846" "0" "50" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "6, 119038, 0, 0.0000504" "{PMID:Heathfield 2013:23695285}" "" "c.1804C>T" "" "Germline" "-" "" "0" "" "" "g.94062710G>A" "" "VUS" ""
"0000123847" "0" "70" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "13, 121216, 0, 0.0001072" "{PMID:Heathfield 2013:23695285}" "" "c.768G>T" "" "Germline" "?" "" "0" "" "" "g.94098794C>A" "" "likely pathogenic" ""
"0000123848" "0" "50" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "6, 119038, 0, 0.0000504" "{PMID:Heathfield 2013:23695285}" "" "c.1804C>T" "" "Germline" "-" "" "0" "" "" "g.94062710G>A" "" "VUS" ""
"0000123849" "0" "70" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "13, 121216, 0, 0.0001072" "{PMID:Heathfield 2013:23695285}" "" "c.768G>T" "" "Germline" "?" "" "0" "" "" "g.94098794C>A" "" "likely pathogenic" ""
"0000123850" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Heathfield 2013:23695285}" "" "c.5461–10T>C" "" "Germline" "-" "" "0" "" "" "g.94011395A>G" "" "pathogenic" ""
"0000123851" "0" "50" "1" "94568687" "94568687" "subst" "1.62641E-5" "01695" "ABCA4_000024" "g.94568687G>A" "1, 120844, 0, 0.000008275" "{PMID:Heathfield 2013:23695285}" "" "c.454C>T" "" "Germline" "?" "" "0" "" "" "g.94103131G>A" "" "VUS" ""
"0000123852" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Heathfield 2013:23695285}" "" "c.5461–10T>C" "" "Germline" "-" "" "0" "" "" "g.94011395A>G" "" "pathogenic" ""
"0000123853" "0" "50" "1" "94568687" "94568687" "subst" "1.62641E-5" "01695" "ABCA4_000024" "g.94568687G>A" "1, 120844, 0, 0.000008275" "{PMID:Heathfield 2013:23695285}" "" "c.454C>T" "" "Germline" "?" "" "0" "" "" "g.94103131G>A" "" "VUS" ""
"0000123854" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Heathfield 2013:23695285}" "" "c.5461–10T>C" "" "Germline" "-" "" "0" "" "" "g.94011395A>G" "" "pathogenic" ""
"0000123855" "0" "50" "1" "94568687" "94568687" "subst" "1.62641E-5" "01695" "ABCA4_000024" "g.94568687G>A" "1, 120844, 0, 0.000008275" "{PMID:Heathfield 2013:23695285}" "" "c.454C>T" "" "Germline" "?" "" "0" "" "" "g.94103131G>A" "" "VUS" ""
"0000123856" "0" "90" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "12, 60116, 0, 0.0001996" "{PMID:Heathfield 2013:23695285}" "" "c.4469G>A" "" "Germline" "-" "" "0" "" "" "g.94029515C>T" "" "pathogenic" ""
"0000123857" "0" "70" "1" "94568687" "94568687" "subst" "1.62641E-5" "01695" "ABCA4_000024" "g.94568687G>A" "1, 120844, 0, 0.000008275" "{PMID:Heathfield 2013:23695285}" "" "c.454C>T" "" "Germline" "?" "" "0" "" "" "g.94103131G>A" "" "likely pathogenic" ""
"0000123858" "0" "90" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "12, 60116, 0, 0.0001996" "{PMID:Heathfield 2013:23695285}" "" "c.4469G>A" "" "Germline" "-" "" "0" "" "" "g.94029515C>T" "" "pathogenic" ""
"0000123859" "0" "70" "1" "94568687" "94568687" "subst" "1.62641E-5" "01695" "ABCA4_000024" "g.94568687G>A" "1, 120844, 0, 0.000008275" "{PMID:Heathfield 2013:23695285}" "" "c.454C>T" "" "Germline" "?" "" "0" "" "" "g.94103131G>A" "" "likely pathogenic" ""
"0000123860" "0" "90" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "12, 60116, 0, 0.0001996" "{PMID:Heathfield 2013:23695285}" "" "c.4469G>A" "" "Germline" "-" "" "0" "" "" "g.94029515C>T" "" "pathogenic" ""
"0000123861" "0" "70" "1" "94568687" "94568687" "subst" "1.62641E-5" "01695" "ABCA4_000024" "g.94568687G>A" "1, 120844, 0, 0.000008275" "{PMID:Heathfield 2013:23695285}" "" "c.454C>T" "" "Germline" "?" "" "0" "" "" "g.94103131G>A" "" "likely pathogenic" ""
"0000123862" "0" "90" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "12, 60116, 0, 0.0001996" "{PMID:Heathfield 2013:23695285}" "" "c.4469G>A" "" "Germline" "-" "" "0" "" "" "g.94029515C>T" "" "pathogenic" ""
"0000123863" "0" "70" "1" "94568687" "94568687" "subst" "1.62641E-5" "01695" "ABCA4_000024" "g.94568687G>A" "1, 120844, 0, 0.000008275" "{PMID:Heathfield 2013:23695285}" "" "c.454C>T" "" "Germline" "?" "" "0" "" "" "g.94103131G>A" "" "likely pathogenic" ""
"0000123864" "0" "90" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "12, 60116, 0, 0.0001996" "{PMID:Heathfield 2013:23695285}" "" "c.4469G>A" "" "Germline" "-" "" "0" "" "" "g.94029515C>T" "" "pathogenic" ""
"0000123865" "0" "70" "1" "94568687" "94568687" "subst" "1.62641E-5" "01695" "ABCA4_000024" "g.94568687G>A" "1, 120844, 0, 0.000008275" "{PMID:Heathfield 2013:23695285}" "" "c.454C>T" "" "Germline" "?" "" "0" "" "" "g.94103131G>A" "" "likely pathogenic" ""
"0000123866" "0" "90" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "12, 60116, 0, 0.0001996" "{PMID:Heathfield 2013:23695285}" "" "c.4469G>A" "" "Germline" "-" "" "0" "" "" "g.94029515C>T" "" "pathogenic" ""
"0000123867" "0" "70" "1" "94568687" "94568687" "subst" "1.62641E-5" "01695" "ABCA4_000024" "g.94568687G>A" "1, 120844, 0, 0.000008275" "{PMID:Heathfield 2013:23695285}" "" "c.454C>T" "" "Germline" "?" "" "0" "" "" "g.94103131G>A" "" "likely pathogenic" ""
"0000123868" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "13, 121216, 0, 0.0001072" "{PMID:Heathfield 2013:23695285}" "" "c.768G>T" "" "Germline" "-" "" "0" "" "" "g.94098794C>A" "" "pathogenic" ""
"0000123869" "0" "50" "1" "94568687" "94568687" "subst" "1.62641E-5" "01695" "ABCA4_000024" "g.94568687G>A" "1, 120844, 0, 0.000008275" "{PMID:Heathfield 2013:23695285}" "" "c.454C>T" "" "Germline" "?" "" "0" "" "" "g.94103131G>A" "" "VUS" ""
"0000123870" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "13, 121216, 0, 0.0001072" "{PMID:Heathfield 2013:23695285}" "" "c.768G>T" "" "Germline" "-" "" "0" "" "" "g.94098794C>A" "" "pathogenic" ""
"0000123871" "0" "50" "1" "94568687" "94568687" "subst" "1.62641E-5" "01695" "ABCA4_000024" "g.94568687G>A" "1, 120844, 0, 0.000008275" "{PMID:Heathfield 2013:23695285}" "" "c.454C>T" "" "Germline" "?" "" "0" "" "" "g.94103131G>A" "" "VUS" ""
"0000123872" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "13, 121216, 0, 0.0001072" "{PMID:Heathfield 2013:23695285}" "" "c.768G>T" "" "Germline" "-" "" "0" "" "" "g.94098794C>A" "" "pathogenic" ""
"0000123873" "0" "50" "1" "94568687" "94568687" "subst" "1.62641E-5" "01695" "ABCA4_000024" "g.94568687G>A" "1, 120844, 0, 0.000008275" "{PMID:Heathfield 2013:23695285}" "" "c.454C>T" "" "Germline" "?" "" "0" "" "" "g.94103131G>A" "" "VUS" ""
"0000123874" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "13, 121216, 0, 0.0001072" "{PMID:Heathfield 2013:23695285}" "" "c.768G>T" "" "Germline" "-" "" "0" "" "" "g.94098794C>A" "" "pathogenic" ""
"0000123875" "0" "50" "1" "94568687" "94568687" "subst" "1.62641E-5" "01695" "ABCA4_000024" "g.94568687G>A" "1, 120844, 0, 0.000008275" "{PMID:Heathfield 2013:23695285}" "" "c.454C>T" "" "Germline" "?" "" "0" "" "" "g.94103131G>A" "" "VUS" ""
"0000123876" "3" "50" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "13, 121216, 0, 0.0001072" "{PMID:Heathfield 2013:23695285}" "" "c.768G>T" "" "Germline" "?" "" "0" "" "" "g.94098794C>A" "" "VUS" ""
"0000123877" "3" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "12, 60116, 0, 0.0001996" "{PMID:Heathfield 2013:23695285}" "" "c.4469G>A" "" "Germline" "?" "" "0" "" "" "g.94029515C>T" "" "likely pathogenic" ""
"0000123878" "3" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "12, 60116, 0, 0.0001996" "{PMID:Heathfield 2013:23695285}" "" "c.4469G>A" "" "Germline" "?" "" "0" "" "" "g.94029515C>T" "" "likely pathogenic" ""
"0000123879" "3" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "12, 60116, 0, 0.0001996" "{PMID:Heathfield 2013:23695285}" "" "c.4469G>A" "" "Germline" "?" "" "0" "" "" "g.94029515C>T" "" "likely pathogenic" ""
"0000123880" "3" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "12, 60116, 0, 0.0001996" "{PMID:Heathfield 2013:23695285}" "" "c.4469G>A" "" "Germline" "?" "" "0" "" "" "g.94029515C>T" "" "likely pathogenic" ""
"0000123881" "3" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "12, 60116, 0, 0.0001996" "{PMID:Heathfield 2013:23695285}" "" "c.4469G>A" "" "Germline" "?" "" "0" "" "" "g.94029515C>T" "" "likely pathogenic" ""
"0000123882" "3" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "12, 60116, 0, 0.0001996" "{PMID:Heathfield 2013:23695285}" "" "c.4469G>A" "" "Germline" "?" "" "0" "" "" "g.94029515C>T" "" "likely pathogenic" ""
"0000123883" "3" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "12, 60116, 0, 0.0001996" "{PMID:Heathfield 2013:23695285}" "" "c.4469G>A" "" "Germline" "?" "" "0" "" "" "g.94029515C>T" "" "likely pathogenic" ""
"0000123884" "3" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "12, 60116, 0, 0.0001996" "{PMID:Heathfield 2013:23695285}" "" "c.4469G>A" "" "Germline" "?" "" "0" "" "" "g.94029515C>T" "" "likely pathogenic" ""
"0000123885" "3" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "12, 60116, 0, 0.0001996" "{PMID:Heathfield 2013:23695285}" "" "c.4469G>A" "" "Germline" "?" "" "0" "" "" "g.94029515C>T" "" "likely pathogenic" ""
"0000123886" "0" "90" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "26, 121404, 0, 0.0002142" "{PMID:Heathfield 2013:23695285}" "" "c.6079C>T" "" "Germline" "-" "" "0" "" "" "g.94005509G>A" "" "pathogenic" ""
"0000123887" "0" "70" "1" "94568687" "94568687" "subst" "1.62641E-5" "01695" "ABCA4_000024" "g.94568687G>A" "1, 120844, 0, 0.000008275" "{PMID:Heathfield 2013:23695285}" "" "c.454C>T" "" "Germline" "?" "" "0" "" "" "g.94103131G>A" "" "likely pathogenic" ""
"0000123888" "0" "90" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "26, 121404, 0, 0.0002142" "{PMID:Heathfield 2013:23695285}" "" "c.6079C>T" "" "Germline" "-" "" "0" "" "" "g.94005509G>A" "" "pathogenic" ""
"0000123889" "0" "70" "1" "94568687" "94568687" "subst" "1.62641E-5" "01695" "ABCA4_000024" "g.94568687G>A" "1, 120844, 0, 0.000008275" "{PMID:Heathfield 2013:23695285}" "" "c.454C>T" "" "Germline" "?" "" "0" "" "" "g.94103131G>A" "" "likely pathogenic" ""
"0000123890" "0" "90" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "26, 121404, 0, 0.0002142" "{PMID:Heathfield 2013:23695285}" "" "c.6079C>T" "" "Germline" "-" "" "0" "" "" "g.94005509G>A" "" "pathogenic" ""
"0000123891" "0" "70" "1" "94568687" "94568687" "subst" "1.62641E-5" "01695" "ABCA4_000024" "g.94568687G>A" "1, 120844, 0, 0.000008275" "{PMID:Heathfield 2013:23695285}" "" "c.454C>T" "" "Germline" "?" "" "0" "" "" "g.94103131G>A" "" "likely pathogenic" ""
"0000123892" "0" "90" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "26, 121404, 0, 0.0002142" "{PMID:Heathfield 2013:23695285}" "" "c.6079C>T" "" "Germline" "-" "" "0" "" "" "g.94005509G>A" "" "pathogenic" ""
"0000123893" "0" "70" "1" "94568687" "94568687" "subst" "1.62641E-5" "01695" "ABCA4_000024" "g.94568687G>A" "1, 120844, 0, 0.000008275" "{PMID:Heathfield 2013:23695285}" "" "c.454C>T" "" "Germline" "?" "" "0" "" "" "g.94103131G>A" "" "likely pathogenic" ""
"0000123894" "0" "90" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "26, 121404, 0, 0.0002142" "{PMID:Heathfield 2013:23695285}" "" "c.6079C>T" "" "Germline" "-" "" "0" "" "" "g.94005509G>A" "" "pathogenic" ""
"0000123895" "0" "70" "1" "94568687" "94568687" "subst" "1.62641E-5" "01695" "ABCA4_000024" "g.94568687G>A" "1, 120844, 0, 0.000008275" "{PMID:Heathfield 2013:23695285}" "" "c.454C>T" "" "Germline" "?" "" "0" "" "" "g.94103131G>A" "" "likely pathogenic" ""
"0000123896" "0" "90" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "26, 121404, 0, 0.0002142" "{PMID:Heathfield 2013:23695285}" "" "c.6079C>T" "" "Germline" "-" "" "0" "" "" "g.94005509G>A" "" "pathogenic" ""
"0000123897" "0" "70" "1" "94568687" "94568687" "subst" "1.62641E-5" "01695" "ABCA4_000024" "g.94568687G>A" "1, 120844, 0, 0.000008275" "{PMID:Heathfield 2013:23695285}" "" "c.454C>T" "" "Germline" "?" "" "0" "" "" "g.94103131G>A" "" "likely pathogenic" ""
"0000123898" "0" "90" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "26, 121404, 0, 0.0002142" "{PMID:Heathfield 2013:23695285}" "" "c.6079C>T" "" "Germline" "-" "" "0" "" "" "g.94005509G>A" "" "pathogenic" ""
"0000123899" "0" "70" "1" "94568687" "94568687" "subst" "1.62641E-5" "01695" "ABCA4_000024" "g.94568687G>A" "1, 120844, 0, 0.000008275" "{PMID:Heathfield 2013:23695285}" "" "c.454C>T" "" "Germline" "?" "" "0" "" "" "g.94103131G>A" "" "likely pathogenic" ""
"0000123900" "0" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "12, 60116, 0, 0.0001996" "{PMID:Heathfield 2013:23695285}" "" "c.4469G>A" "" "Germline" "-" "" "0" "" "" "g.94029515C>T" "" "likely pathogenic" ""
"0000123901" "0" "70" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "6, 119038, 0, 0.0000504" "{PMID:Heathfield 2013:23695285}" "" "c.1804C>T" "" "Germline" "?" "" "0" "" "" "g.94062710G>A" "" "likely pathogenic" ""
"0000123902" "0" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "12, 60116, 0, 0.0001996" "{PMID:Heathfield 2013:23695285}" "" "c.4469G>A" "" "Germline" "-" "" "0" "" "" "g.94029515C>T" "" "likely pathogenic" ""
"0000123903" "0" "70" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "6, 119038, 0, 0.0000504" "{PMID:Heathfield 2013:23695285}" "" "c.1804C>T" "" "Germline" "?" "" "0" "" "" "g.94062710G>A" "" "likely pathogenic" ""
"0000123904" "0" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "12, 60116, 0, 0.0001996" "{PMID:Heathfield 2013:23695285}" "" "c.4469G>A" "" "Germline" "-" "" "0" "" "" "g.94029515C>T" "" "likely pathogenic" ""
"0000123905" "0" "70" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "6, 119038, 0, 0.0000504" "{PMID:Heathfield 2013:23695285}" "" "c.1804C>T" "" "Germline" "?" "" "0" "" "" "g.94062710G>A" "" "likely pathogenic" ""
"0000123906" "0" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "12, 60116, 0, 0.0001996" "{PMID:Heathfield 2013:23695285}" "" "c.4469G>A" "" "Germline" "-" "" "0" "" "" "g.94029515C>T" "" "likely pathogenic" ""
"0000123907" "0" "70" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "6, 119038, 0, 0.0000504" "{PMID:Heathfield 2013:23695285}" "" "c.1804C>T" "" "Germline" "?" "" "0" "" "" "g.94062710G>A" "" "likely pathogenic" ""
"0000123908" "0" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "12, 60116, 0, 0.0001996" "{PMID:Heathfield 2013:23695285}" "" "c.4469G>A" "" "Germline" "-" "" "0" "" "" "g.94029515C>T" "" "likely pathogenic" ""
"0000123909" "0" "70" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "6, 119038, 0, 0.0000504" "{PMID:Heathfield 2013:23695285}" "" "c.1804C>T" "" "Germline" "?" "" "0" "" "" "g.94062710G>A" "" "likely pathogenic" ""
"0000123910" "0" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "12, 60116, 0, 0.0001996" "{PMID:Heathfield 2013:23695285}" "" "c.4469G>A" "" "Germline" "-" "" "0" "" "" "g.94029515C>T" "" "likely pathogenic" ""
"0000123911" "0" "70" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "6, 119038, 0, 0.0000504" "{PMID:Heathfield 2013:23695285}" "" "c.1804C>T" "" "Germline" "?" "" "0" "" "" "g.94062710G>A" "" "likely pathogenic" ""
"0000123912" "0" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "12, 60116, 0, 0.0001996" "{PMID:Heathfield 2013:23695285}" "" "c.4469G>A" "" "Germline" "-" "" "0" "" "" "g.94029515C>T" "" "likely pathogenic" ""
"0000123913" "0" "70" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "6, 119038, 0, 0.0000504" "{PMID:Heathfield 2013:23695285}" "" "c.1804C>T" "" "Germline" "?" "" "0" "" "" "g.94062710G>A" "" "likely pathogenic" ""
"0000123914" "0" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "12, 60116, 0, 0.0001996" "{PMID:Heathfield 2013:23695285}" "" "c.4469G>A" "" "Germline" "-" "" "0" "" "" "g.94029515C>T" "" "likely pathogenic" ""
"0000123915" "0" "70" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "6, 119038, 0, 0.0000504" "{PMID:Heathfield 2013:23695285}" "" "c.1804C>T" "" "Germline" "?" "" "0" "" "" "g.94062710G>A" "" "likely pathogenic" ""
"0000123916" "0" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "12, 60116, 0, 0.0001996" "{PMID:Heathfield 2013:23695285}" "" "c.4469G>A" "" "Germline" "-" "" "0" "" "" "g.94029515C>T" "" "likely pathogenic" ""
"0000123917" "0" "70" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "6, 119038, 0, 0.0000504" "{PMID:Heathfield 2013:23695285}" "" "c.1804C>T" "" "Germline" "?" "" "0" "" "" "g.94062710G>A" "" "likely pathogenic" ""
"0000123918" "0" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "12, 60116, 0, 0.0001996" "{PMID:Heathfield 2013:23695285}" "" "c.4469G>A" "" "Germline" "-" "" "0" "" "" "g.94029515C>T" "" "likely pathogenic" ""
"0000123919" "0" "70" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "6, 119038, 0, 0.0000504" "{PMID:Heathfield 2013:23695285}" "" "c.1804C>T" "" "Germline" "?" "" "0" "" "" "g.94062710G>A" "" "likely pathogenic" ""
"0000123920" "0" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "12, 60116, 0, 0.0001996" "{PMID:Heathfield 2013:23695285}" "" "c.4469G>A" "" "Germline" "-" "" "0" "" "" "g.94029515C>T" "" "likely pathogenic" ""
"0000123921" "0" "70" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "6, 119038, 0, 0.0000504" "{PMID:Heathfield 2013:23695285}" "" "c.1804C>T" "" "Germline" "?" "" "0" "" "" "g.94062710G>A" "" "likely pathogenic" ""
"0000123922" "0" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "12, 60116, 0, 0.0001996" "{PMID:Heathfield 2013:23695285}" "" "c.4469G>A" "" "Germline" "-" "" "0" "" "" "g.94029515C>T" "" "likely pathogenic" ""
"0000123923" "0" "70" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "6, 119038, 0, 0.0000504" "{PMID:Heathfield 2013:23695285}" "" "c.1804C>T" "" "Germline" "?" "" "0" "" "" "g.94062710G>A" "" "likely pathogenic" ""
"0000123924" "0" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "12, 60116, 0, 0.0001996" "{PMID:Heathfield 2013:23695285}" "" "c.4469G>A" "" "Germline" "-" "" "0" "" "" "g.94029515C>T" "" "likely pathogenic" ""
"0000123925" "0" "70" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "6, 119038, 0, 0.0000504" "{PMID:Heathfield 2013:23695285}" "" "c.1804C>T" "" "Germline" "?" "" "0" "" "" "g.94062710G>A" "" "likely pathogenic" ""
"0000123926" "0" "50" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "12, 60116, 0, 0.0001996" "{PMID:Heathfield 2013:23695285}" "" "c.4469G>A" "" "Germline" "-" "" "0" "" "" "g.94029515C>T" "" "VUS" ""
"0000123927" "0" "70" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Heathfield 2013:23695285}" "" "c.5461–10T>C" "" "Germline" "?" "" "0" "" "" "g.94011395A>G" "" "likely pathogenic" ""
"0000123928" "0" "50" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "12, 60116, 0, 0.0001996" "{PMID:Heathfield 2013:23695285}" "" "c.4469G>A" "" "Germline" "-" "" "0" "" "" "g.94029515C>T" "" "VUS" ""
"0000123929" "0" "70" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Heathfield 2013:23695285}" "" "c.5461–10T>C" "" "Germline" "?" "" "0" "" "" "g.94011395A>G" "" "likely pathogenic" ""
"0000123930" "0" "50" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "12, 60116, 0, 0.0001996" "{PMID:Heathfield 2013:23695285}" "" "c.4469G>A" "" "Germline" "-" "" "0" "" "" "g.94029515C>T" "" "VUS" ""
"0000123931" "0" "70" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Heathfield 2013:23695285}" "" "c.5461–10T>C" "" "Germline" "?" "" "0" "" "" "g.94011395A>G" "" "likely pathogenic" ""
"0000123932" "0" "50" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "12, 60116, 0, 0.0001996" "{PMID:Heathfield 2013:23695285}" "" "c.4469G>A" "" "Germline" "-" "" "0" "" "" "g.94029515C>T" "" "VUS" ""
"0000123933" "0" "70" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Heathfield 2013:23695285}" "" "c.5461–10T>C" "" "Germline" "?" "" "0" "" "" "g.94011395A>G" "" "likely pathogenic" ""
"0000123934" "0" "50" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "12, 60116, 0, 0.0001996" "{PMID:Heathfield 2013:23695285}" "" "c.4469G>A" "" "Germline" "-" "" "0" "" "" "g.94029515C>T" "" "VUS" ""
"0000123935" "0" "70" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Heathfield 2013:23695285}" "" "c.5461–10T>C" "" "Germline" "?" "" "0" "" "" "g.94011395A>G" "" "likely pathogenic" ""
"0000123936" "0" "50" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "12, 60116, 0, 0.0001996" "{PMID:Heathfield 2013:23695285}" "" "c.4469G>A" "" "Germline" "-" "" "0" "" "" "g.94029515C>T" "" "VUS" ""
"0000123937" "0" "70" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Heathfield 2013:23695285}" "" "c.5461–10T>C" "" "Germline" "?" "" "0" "" "" "g.94011395A>G" "" "likely pathogenic" ""
"0000123938" "0" "50" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "12, 60116, 0, 0.0001996" "{PMID:Heathfield 2013:23695285}" "" "c.4469G>A" "" "Germline" "-" "" "0" "" "" "g.94029515C>T" "" "VUS" ""
"0000123939" "0" "70" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Heathfield 2013:23695285}" "" "c.5461–10T>C" "" "Germline" "?" "" "0" "" "" "g.94011395A>G" "" "likely pathogenic" ""
"0000123940" "0" "50" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "12, 60116, 0, 0.0001996" "{PMID:Heathfield 2013:23695285}" "" "c.4469G>A" "" "Germline" "-" "" "0" "" "" "g.94029515C>T" "" "VUS" ""
"0000123941" "0" "70" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Heathfield 2013:23695285}" "" "c.5461–10T>C" "" "Germline" "?" "" "0" "" "" "g.94011395A>G" "" "likely pathogenic" ""
"0000123942" "0" "50" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "12, 60116, 0, 0.0001996" "{PMID:Heathfield 2013:23695285}" "" "c.4469G>A" "" "Germline" "-" "" "0" "" "" "g.94029515C>T" "" "VUS" ""
"0000123943" "0" "70" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Heathfield 2013:23695285}" "" "c.5461–10T>C" "" "Germline" "?" "" "0" "" "" "g.94011395A>G" "" "likely pathogenic" ""
"0000123944" "0" "50" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "12, 60116, 0, 0.0001996" "{PMID:Heathfield 2013:23695285}" "" "c.4469G>A" "" "Germline" "-" "" "0" "" "" "g.94029515C>T" "" "VUS" ""
"0000123945" "0" "70" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Heathfield 2013:23695285}" "" "c.5461–10T>C" "" "Germline" "?" "" "0" "" "" "g.94011395A>G" "" "likely pathogenic" ""
"0000123946" "0" "50" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "12, 60116, 0, 0.0001996" "{PMID:Heathfield 2013:23695285}" "" "c.4469G>A" "" "Germline" "-" "" "0" "" "" "g.94029515C>T" "" "VUS" ""
"0000123947" "0" "70" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Heathfield 2013:23695285}" "" "c.5461–10T>C" "" "Germline" "?" "" "0" "" "" "g.94011395A>G" "" "likely pathogenic" ""
"0000123948" "0" "50" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "12, 60116, 0, 0.0001996" "{PMID:Heathfield 2013:23695285}" "" "c.4469G>A" "" "Germline" "-" "" "0" "" "" "g.94029515C>T" "" "VUS" ""
"0000123949" "0" "70" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Heathfield 2013:23695285}" "" "c.5461–10T>C" "" "Germline" "?" "" "0" "" "" "g.94011395A>G" "" "likely pathogenic" ""
"0000123950" "0" "50" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "12, 60116, 0, 0.0001996" "{PMID:Heathfield 2013:23695285}" "" "c.4469G>A" "" "Germline" "-" "" "0" "" "" "g.94029515C>T" "" "VUS" ""
"0000123951" "0" "70" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Heathfield 2013:23695285}" "" "c.5461–10T>C" "" "Germline" "?" "" "0" "" "" "g.94011395A>G" "" "likely pathogenic" ""
"0000123952" "0" "50" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "12, 60116, 0, 0.0001996" "{PMID:Heathfield 2013:23695285}" "" "c.4469G>A" "" "Germline" "-" "" "0" "" "" "g.94029515C>T" "" "VUS" ""
"0000123953" "0" "70" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "13, 121216, 0, 0.0001072" "{PMID:Heathfield 2013:23695285}" "" "c.768G>T" "" "Germline" "?" "" "0" "" "" "g.94098794C>A" "" "likely pathogenic" ""
"0000123954" "0" "50" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "12, 60116, 0, 0.0001996" "{PMID:Heathfield 2013:23695285}" "" "c.4469G>A" "" "Germline" "-" "" "0" "" "" "g.94029515C>T" "" "VUS" ""
"0000123955" "0" "70" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "13, 121216, 0, 0.0001072" "{PMID:Heathfield 2013:23695285}" "" "c.768G>T" "" "Germline" "?" "" "0" "" "" "g.94098794C>A" "" "likely pathogenic" ""
"0000123956" "0" "50" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "12, 60116, 0, 0.0001996" "{PMID:Heathfield 2013:23695285}" "" "c.4469G>A" "" "Germline" "-" "" "0" "" "" "g.94029515C>T" "" "VUS" ""
"0000123957" "0" "70" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "13, 121216, 0, 0.0001072" "{PMID:Heathfield 2013:23695285}" "" "c.768G>T" "" "Germline" "?" "" "0" "" "" "g.94098794C>A" "" "likely pathogenic" ""
"0000123958" "0" "50" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "12, 60116, 0, 0.0001996" "{PMID:Heathfield 2013:23695285}" "" "c.4469G>A" "" "Germline" "-" "" "0" "" "" "g.94029515C>T" "" "VUS" ""
"0000123959" "0" "70" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "13, 121216, 0, 0.0001072" "{PMID:Heathfield 2013:23695285}" "" "c.768G>T" "" "Germline" "?" "" "0" "" "" "g.94098794C>A" "" "likely pathogenic" ""
"0000123960" "0" "50" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "12, 60116, 0, 0.0001996" "{PMID:Heathfield 2013:23695285}" "" "c.4469G>A" "" "Germline" "-" "" "0" "" "" "g.94029515C>T" "" "VUS" ""
"0000123961" "0" "70" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "13, 121216, 0, 0.0001072" "{PMID:Heathfield 2013:23695285}" "" "c.768G>T" "" "Germline" "?" "" "0" "" "" "g.94098794C>A" "" "likely pathogenic" ""
"0000123962" "0" "50" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "12, 60116, 0, 0.0001996" "{PMID:Heathfield 2013:23695285}" "" "c.4469G>A" "" "Germline" "-" "" "0" "" "" "g.94029515C>T" "" "VUS" ""
"0000123963" "0" "70" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "13, 121216, 0, 0.0001072" "{PMID:Heathfield 2013:23695285}" "" "c.768G>T" "" "Germline" "?" "" "0" "" "" "g.94098794C>A" "" "likely pathogenic" ""
"0000123964" "0" "50" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "12, 60116, 0, 0.0001996" "{PMID:Heathfield 2013:23695285}" "" "c.4469G>A" "" "Germline" "-" "" "0" "" "" "g.94029515C>T" "" "VUS" ""
"0000123965" "0" "70" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "13, 121216, 0, 0.0001072" "{PMID:Heathfield 2013:23695285}" "" "c.768G>T" "" "Germline" "?" "" "0" "" "" "g.94098794C>A" "" "likely pathogenic" ""
"0000123966" "0" "50" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "12, 60116, 0, 0.0001996" "{PMID:Heathfield 2013:23695285}" "" "c.4469G>A" "" "Germline" "-" "" "0" "" "" "g.94029515C>T" "" "VUS" ""
"0000123967" "0" "70" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "13, 121216, 0, 0.0001072" "{PMID:Heathfield 2013:23695285}" "" "c.768G>T" "" "Germline" "?" "" "0" "" "" "g.94098794C>A" "" "likely pathogenic" ""
"0000123968" "0" "50" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "12, 60116, 0, 0.0001996" "{PMID:Heathfield 2013:23695285}" "" "c.4469G>A" "" "Germline" "-" "" "0" "" "" "g.94029515C>T" "" "VUS" ""
"0000123969" "0" "70" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "13, 121216, 0, 0.0001072" "{PMID:Heathfield 2013:23695285}" "" "c.768G>T" "" "Germline" "?" "" "0" "" "" "g.94098794C>A" "" "likely pathogenic" ""
"0000123970" "0" "50" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "12, 60116, 0, 0.0001996" "{PMID:Heathfield 2013:23695285}" "" "c.4469G>A" "" "Germline" "-" "" "0" "" "" "g.94029515C>T" "" "VUS" ""
"0000123971" "0" "70" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "13, 121216, 0, 0.0001072" "{PMID:Heathfield 2013:23695285}" "" "c.768G>T" "" "Germline" "?" "" "0" "" "" "g.94098794C>A" "" "likely pathogenic" ""
"0000123972" "0" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "12, 60116, 0, 0.0001996" "{PMID:Heathfield 2013:23695285}" "" "c.4469G>A" "" "Germline" "-" "" "0" "" "" "g.94029515C>T" "" "likely pathogenic" ""
"0000123973" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "26, 121404, 0, 0.0002142" "{PMID:Heathfield 2013:23695285}" "" "c.6079C>T" "" "Germline" "?" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic" ""
"0000123974" "0" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "12, 60116, 0, 0.0001996" "{PMID:Heathfield 2013:23695285}" "" "c.4469G>A" "" "Germline" "-" "" "0" "" "" "g.94029515C>T" "" "likely pathogenic" ""
"0000123975" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "26, 121404, 0, 0.0002142" "{PMID:Heathfield 2013:23695285}" "" "c.6079C>T" "" "Germline" "?" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic" ""
"0000123976" "0" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "12, 60116, 0, 0.0001996" "{PMID:Heathfield 2013:23695285}" "" "c.4469G>A" "" "Germline" "-" "" "0" "" "" "g.94029515C>T" "" "likely pathogenic" ""
"0000123977" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "26, 121404, 0, 0.0002142" "{PMID:Heathfield 2013:23695285}" "" "c.6079C>T" "" "Germline" "?" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic" ""
"0000123978" "0" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "12, 60116, 0, 0.0001996" "{PMID:Heathfield 2013:23695285}" "" "c.4469G>A" "" "Germline" "-" "" "0" "" "" "g.94029515C>T" "" "likely pathogenic" ""
"0000123979" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "26, 121404, 0, 0.0002142" "{PMID:Heathfield 2013:23695285}" "" "c.6079C>T" "" "Germline" "?" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic" ""
"0000123980" "0" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "12, 60116, 0, 0.0001996" "{PMID:Heathfield 2013:23695285}" "" "c.4469G>A" "" "Germline" "-" "" "0" "" "" "g.94029515C>T" "" "likely pathogenic" ""
"0000123981" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "26, 121404, 0, 0.0002142" "{PMID:Heathfield 2013:23695285}" "" "c.6079C>T" "" "Germline" "?" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic" ""
"0000123982" "0" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "12, 60116, 0, 0.0001996" "{PMID:Heathfield 2013:23695285}" "" "c.4469G>A" "" "Germline" "-" "" "0" "" "" "g.94029515C>T" "" "likely pathogenic" ""
"0000123983" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "26, 121404, 0, 0.0002142" "{PMID:Heathfield 2013:23695285}" "" "c.6079C>T" "" "Germline" "?" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic" ""
"0000123984" "0" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "12, 60116, 0, 0.0001996" "{PMID:Heathfield 2013:23695285}" "" "c.4469G>A" "" "Germline" "-" "" "0" "" "" "g.94029515C>T" "" "likely pathogenic" ""
"0000123985" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "26, 121404, 0, 0.0002142" "{PMID:Heathfield 2013:23695285}" "" "c.6079C>T" "" "Germline" "?" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic" ""
"0000123986" "0" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "12, 60116, 0, 0.0001996" "{PMID:Heathfield 2013:23695285}" "" "c.4469G>A" "" "Germline" "-" "" "0" "" "" "g.94029515C>T" "" "likely pathogenic" ""
"0000123987" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "26, 121404, 0, 0.0002142" "{PMID:Heathfield 2013:23695285}" "" "c.6079C>T" "" "Germline" "?" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic" ""
"0000123988" "0" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "12, 60116, 0, 0.0001996" "{PMID:Heathfield 2013:23695285}" "" "c.4469G>A" "" "Germline" "-" "" "0" "" "" "g.94029515C>T" "" "likely pathogenic" ""
"0000123989" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "26, 121404, 0, 0.0002142" "{PMID:Heathfield 2013:23695285}" "" "c.6079C>T" "" "Germline" "?" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic" ""
"0000123990" "0" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "12, 60116, 0, 0.0001996" "{PMID:Heathfield 2013:23695285}" "" "c.4469G>A" "" "Germline" "-" "" "0" "" "" "g.94029515C>T" "" "likely pathogenic" ""
"0000123991" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "26, 121404, 0, 0.0002142" "{PMID:Heathfield 2013:23695285}" "" "c.6079C>T" "" "Germline" "?" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic" ""
"0000123992" "0" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "12, 60116, 0, 0.0001996" "{PMID:Heathfield 2013:23695285}" "" "c.4469G>A" "" "Germline" "-" "" "0" "" "" "g.94029515C>T" "" "likely pathogenic" ""
"0000123993" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "26, 121404, 0, 0.0002142" "{PMID:Heathfield 2013:23695285}" "" "c.6079C>T" "" "Germline" "?" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic" ""
"0000123994" "0" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "12, 60116, 0, 0.0001996" "{PMID:Heathfield 2013:23695285}" "" "c.4469G>A" "" "Germline" "-" "" "0" "" "" "g.94029515C>T" "" "likely pathogenic" ""
"0000123995" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "26, 121404, 0, 0.0002142" "{PMID:Heathfield 2013:23695285}" "" "c.6079C>T" "" "Germline" "?" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic" ""
"0000123996" "0" "50" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "26, 121404, 0, 0.0002142" "{PMID:Heathfield 2013:23695285}" "" "c.6079C>T" "" "Germline" "-" "" "0" "" "" "g.94005509G>A" "" "VUS" ""
"0000123997" "0" "70" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Heathfield 2013:23695285}" "" "c.5461–10T>C" "" "Germline" "?" "" "0" "" "" "g.94011395A>G" "" "likely pathogenic" ""
"0000123998" "0" "50" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "26, 121404, 0, 0.0002142" "{PMID:Heathfield 2013:23695285}" "" "c.6079C>T" "" "Germline" "-" "" "0" "" "" "g.94005509G>A" "" "VUS" ""
"0000123999" "0" "70" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Heathfield 2013:23695285}" "" "c.5461–10T>C" "" "Germline" "?" "" "0" "" "" "g.94011395A>G" "" "likely pathogenic" ""
"0000124000" "0" "50" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "26, 121404, 0, 0.0002142" "{PMID:Heathfield 2013:23695285}" "" "c.6079C>T" "" "Germline" "-" "" "0" "" "" "g.94005509G>A" "" "VUS" ""
"0000124001" "0" "70" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Heathfield 2013:23695285}" "" "c.5461–10T>C" "" "Germline" "?" "" "0" "" "" "g.94011395A>G" "" "likely pathogenic" ""
"0000124002" "0" "50" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "6, 119038, 0, 0.0000504" "{PMID:Heathfield 2013:23695285}" "" "c.1804C>T" "" "Germline" "-" "" "0" "" "" "g.94062710G>A" "" "VUS" ""
"0000124003" "0" "70" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Heathfield 2013:23695285}" "" "c.5461–10T>C" "" "Germline" "?" "" "0" "" "" "g.94011395A>G" "" "likely pathogenic" ""
"0000124004" "0" "70" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "6, 119038, 0, 0.0000504" "{PMID:Heathfield 2013:23695285}" "" "c.1804C>T" "" "Germline" "-" "" "0" "" "" "g.94062710G>A" "" "likely pathogenic" ""
"0000124005" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "26, 121404, 0, 0.0002142" "{PMID:Heathfield 2013:23695285}" "" "c.6079C>T" "" "Germline" "?" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic" ""
"0000124006" "0" "70" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "6, 119038, 0, 0.0000504" "{PMID:Heathfield 2013:23695285}" "" "c.1804C>T" "" "Germline" "-" "" "0" "" "" "g.94062710G>A" "" "likely pathogenic" ""
"0000124007" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "26, 121404, 0, 0.0002142" "{PMID:Heathfield 2013:23695285}" "" "c.6079C>T" "" "Germline" "?" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic" ""
"0000124008" "0" "70" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "6, 119038, 0, 0.0000504" "{PMID:Heathfield 2013:23695285}" "" "c.1804C>T" "" "Germline" "-" "" "0" "" "" "g.94062710G>A" "" "likely pathogenic" ""
"0000124009" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "26, 121404, 0, 0.0002142" "{PMID:Heathfield 2013:23695285}" "" "c.6079C>T" "" "Germline" "?" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic" ""
"0000124010" "0" "70" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "6, 119038, 0, 0.0000504" "{PMID:Heathfield 2013:23695285}" "" "c.1804C>T" "" "Germline" "-" "" "0" "" "" "g.94062710G>A" "" "likely pathogenic" ""
"0000124011" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "26, 121404, 0, 0.0002142" "{PMID:Heathfield 2013:23695285}" "" "c.6079C>T" "" "Germline" "?" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic" ""
"0000124012" "0" "70" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "6, 119038, 0, 0.0000504" "{PMID:Heathfield 2013:23695285}" "" "c.1804C>T" "" "Germline" "-" "" "0" "" "" "g.94062710G>A" "" "likely pathogenic" ""
"0000124013" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "26, 121404, 0, 0.0002142" "{PMID:Heathfield 2013:23695285}" "" "c.6079C>T" "" "Germline" "?" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic" ""
"0000124014" "0" "70" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "6, 119038, 0, 0.0000504" "{PMID:Heathfield 2013:23695285}" "" "c.1804C>T" "" "Germline" "-" "" "0" "" "" "g.94062710G>A" "" "likely pathogenic" ""
"0000124015" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "26, 121404, 0, 0.0002142" "{PMID:Heathfield 2013:23695285}" "" "c.6079C>T" "" "Germline" "?" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic" ""
"0000124016" "0" "70" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "6, 119038, 0, 0.0000504" "{PMID:Heathfield 2013:23695285}" "" "c.1804C>T" "" "Germline" "-" "" "0" "" "" "g.94062710G>A" "" "likely pathogenic" ""
"0000124017" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "26, 121404, 0, 0.0002142" "{PMID:Heathfield 2013:23695285}" "" "c.6079C>T" "" "Germline" "?" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic" ""
"0000124018" "0" "70" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "6, 119038, 0, 0.0000504" "{PMID:Heathfield 2013:23695285}" "" "c.1804C>T" "" "Germline" "-" "" "0" "" "" "g.94062710G>A" "" "likely pathogenic" ""
"0000124019" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "26, 121404, 0, 0.0002142" "{PMID:Heathfield 2013:23695285}" "" "c.6079C>T" "" "Germline" "?" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic" ""
"0000124020" "0" "50" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "26, 121404, 0, 0.0002142" "{PMID:Heathfield 2013:23695285}" "" "c.6079C>T" "" "Germline" "-" "" "0" "" "" "g.94005509G>A" "" "VUS" ""
"0000124021" "0" "70" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "13, 121216, 0, 0.0001072" "{PMID:Heathfield 2013:23695285}" "" "c.768G>T" "" "Germline" "?" "" "0" "" "" "g.94098794C>A" "" "likely pathogenic" ""
"0000124022" "0" "50" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "26, 121404, 0, 0.0002142" "{PMID:Heathfield 2013:23695285}" "" "c.6079C>T" "" "Germline" "-" "" "0" "" "" "g.94005509G>A" "" "VUS" ""
"0000124023" "0" "70" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "13, 121216, 0, 0.0001072" "{PMID:Heathfield 2013:23695285}" "" "c.768G>T" "" "Germline" "?" "" "0" "" "" "g.94098794C>A" "" "likely pathogenic" ""
"0000124024" "0" "50" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "26, 121404, 0, 0.0002142" "{PMID:Heathfield 2013:23695285}" "" "c.6079C>T" "" "Germline" "-" "" "0" "" "" "g.94005509G>A" "" "VUS" ""
"0000124025" "0" "70" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "13, 121216, 0, 0.0001072" "{PMID:Heathfield 2013:23695285}" "" "c.768G>T" "" "Germline" "?" "" "0" "" "" "g.94098794C>A" "" "likely pathogenic" ""
"0000124026" "0" "50" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "26, 121404, 0, 0.0002142" "{PMID:Heathfield 2013:23695285}" "" "c.6079C>T" "" "Germline" "-" "" "0" "" "" "g.94005509G>A" "" "VUS" ""
"0000124027" "0" "70" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "13, 121216, 0, 0.0001072" "{PMID:Heathfield 2013:23695285}" "" "c.768G>T" "" "Germline" "?" "" "0" "" "" "g.94098794C>A" "" "likely pathogenic" ""
"0000124028" "0" "50" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "26, 121404, 0, 0.0002142" "{PMID:Heathfield 2013:23695285}" "" "c.6079C>T" "" "Germline" "-" "" "0" "" "" "g.94005509G>A" "" "VUS" ""
"0000124029" "0" "70" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "13, 121216, 0, 0.0001072" "{PMID:Heathfield 2013:23695285}" "" "c.768G>T" "" "Germline" "?" "" "0" "" "" "g.94098794C>A" "" "likely pathogenic" ""
"0000124030" "0" "50" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "26, 121404, 0, 0.0002142" "{PMID:Heathfield 2013:23695285}" "" "c.6079C>T" "" "Germline" "-" "" "0" "" "" "g.94005509G>A" "" "VUS" ""
"0000124031" "0" "70" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "13, 121216, 0, 0.0001072" "{PMID:Heathfield 2013:23695285}" "" "c.768G>T" "" "Germline" "?" "" "0" "" "" "g.94098794C>A" "" "likely pathogenic" ""
"0000124032" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "13, 121216, 0, 0.0001072" "{PMID:Heathfield 2013:23695285}" "" "c.768G>T" "" "Germline" "-" "" "0" "" "" "g.94098794C>A" "" "pathogenic" ""
"0000124033" "0" "50" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Heathfield 2013:23695285}" "" "c.2588G>C" "" "Germline" "?" "rs76157638" "0" "" "" "g.94051698C>G" "" "VUS" ""
"0000124034" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "13, 121216, 0, 0.0001072" "{PMID:Heathfield 2013:23695285}" "" "c.768G>T" "" "Germline" "-" "" "0" "" "" "g.94098794C>A" "" "pathogenic" ""
"0000124035" "0" "50" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Heathfield 2013:23695285}" "" "c.2588G>C" "" "Germline" "?" "rs76157638" "0" "" "" "g.94051698C>G" "" "VUS" ""
"0000124036" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "13, 121216, 0, 0.0001072" "{PMID:Heathfield 2013:23695285}" "" "c.768G>T" "" "Germline" "-" "" "0" "" "" "g.94098794C>A" "" "pathogenic" ""
"0000124037" "0" "50" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Heathfield 2013:23695285}" "" "c.2588G>C" "" "Germline" "?" "rs76157638" "0" "" "" "g.94051698C>G" "" "VUS" ""
"0000124038" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "6, 119038, 0, 0.0000504" "{PMID:Heathfield 2013:23695285}" "" "c.1804C>T" "" "Germline" "-" "" "0" "" "" "g.94062710G>A" "" "pathogenic" ""
"0000124039" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Heathfield 2013:23695285}" "" "c.2588G>C" "" "Germline" "?" "rs76157638" "0" "" "" "g.94051698C>G" "" "likely pathogenic" ""
"0000124040" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "6, 119038, 0, 0.0000504" "{PMID:Heathfield 2013:23695285}" "" "c.1804C>T" "" "Germline" "-" "" "0" "" "" "g.94062710G>A" "" "pathogenic" ""
"0000124041" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Heathfield 2013:23695285}" "" "c.2588G>C" "" "Germline" "?" "rs76157638" "0" "" "" "g.94051698C>G" "" "likely pathogenic" ""
"0000124042" "0" "90" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "12, 60116, 0, 0.0001996" "{PMID:Heathfield 2013:23695285}" "" "c.4469G>A" "" "Germline" "-" "" "0" "" "" "g.94029515C>T" "" "pathogenic" ""
"0000124043" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Heathfield 2013:23695285}" "" "c.2588G>C" "" "Germline" "?" "rs76157638" "0" "" "" "g.94051698C>G" "" "likely pathogenic" ""
"0000124044" "0" "90" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "12, 60116, 0, 0.0001996" "{PMID:Heathfield 2013:23695285}" "" "c.4469G>A" "" "Germline" "-" "" "0" "" "" "g.94029515C>T" "" "pathogenic" ""
"0000124045" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Heathfield 2013:23695285}" "" "c.2588G>C" "" "Germline" "?" "rs76157638" "0" "" "" "g.94051698C>G" "" "likely pathogenic" ""
"0000124046" "0" "90" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "12, 60116, 0, 0.0001996" "{PMID:Heathfield 2013:23695285}" "" "c.4469G>A" "" "Germline" "-" "" "0" "" "" "g.94029515C>T" "" "pathogenic" ""
"0000124047" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Heathfield 2013:23695285}" "" "c.2588G>C" "" "Germline" "?" "rs76157638" "0" "" "" "g.94051698C>G" "" "likely pathogenic" ""
"0000124048" "0" "90" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "12, 60116, 0, 0.0001996" "{PMID:Heathfield 2013:23695285}" "" "c.4469G>A" "" "Germline" "-" "" "0" "" "" "g.94029515C>T" "" "pathogenic" ""
"0000124049" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Heathfield 2013:23695285}" "" "c.2588G>C" "" "Germline" "?" "rs76157638" "0" "" "" "g.94051698C>G" "" "likely pathogenic" ""
"0000124050" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Heathfield 2013:23695285}" "" "c.5461–10T>C" "" "Germline" "-" "" "0" "" "" "g.94011395A>G" "" "pathogenic" ""
"0000124051" "0" "50" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Heathfield 2013:23695285}" "" "c.2588G>C" "" "Germline" "?" "rs76157638" "0" "" "" "g.94051698C>G" "" "VUS" ""
"0000124052" "3" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "26, 121404, 0, 0.0002142" "{PMID:Heathfield 2013:23695285}" "" "c.6079C>T" "" "Germline" "?" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic" ""
"0000124053" "3" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "26, 121404, 0, 0.0002142" "{PMID:Heathfield 2013:23695285}" "" "c.6079C>T" "" "Germline" "?" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic" ""
"0000124054" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Heathfield 2013:23695285}" "" "c.2588G>C" "" "Germline" "-" "rs76157638" "0" "" "" "g.94051698C>G" "" "pathogenic" ""
"0000124055" "0" "90" "1" "94568687" "94568687" "subst" "1.62641E-5" "01695" "ABCA4_000024" "g.94568687G>A" "1, 120844, 0, 0.000008275" "{PMID:Heathfield 2013:23695285}" "" "c.454C>T" "" "Germline" "?" "" "0" "" "" "g.94103131G>A" "" "pathogenic" ""
"0000124056" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Heathfield 2013:23695285}" "" "c.2588G>C" "" "Germline" "-" "rs76157638" "0" "" "" "g.94051698C>G" "" "pathogenic" ""
"0000124057" "0" "90" "1" "94568687" "94568687" "subst" "1.62641E-5" "01695" "ABCA4_000024" "g.94568687G>A" "1, 120844, 0, 0.000008275" "{PMID:Heathfield 2013:23695285}" "" "c.454C>T" "" "Germline" "?" "" "0" "" "" "g.94103131G>A" "" "pathogenic" ""
"0000124058" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Heathfield 2013:23695285}" "" "c.2588G>C" "" "Germline" "-" "rs76157638" "0" "" "" "g.94051698C>G" "" "pathogenic" ""
"0000124059" "0" "90" "1" "94568687" "94568687" "subst" "1.62641E-5" "01695" "ABCA4_000024" "g.94568687G>A" "1, 120844, 0, 0.000008275" "{PMID:Heathfield 2013:23695285}" "" "c.454C>T" "" "Germline" "?" "" "0" "" "" "g.94103131G>A" "" "pathogenic" ""
"0000124060" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Heathfield 2013:23695285}" "" "c.2588G>C" "" "Germline" "-" "rs76157638" "0" "" "" "g.94051698C>G" "" "pathogenic" ""
"0000124061" "0" "90" "1" "94568687" "94568687" "subst" "1.62641E-5" "01695" "ABCA4_000024" "g.94568687G>A" "1, 120844, 0, 0.000008275" "{PMID:Heathfield 2013:23695285}" "" "c.454C>T" "" "Germline" "?" "" "0" "" "" "g.94103131G>A" "" "pathogenic" ""
"0000124062" "3" "50" "1" "94480146" "94480146" "subst" "2.84273E-5" "01695" "ABCA4_000122" "g.94480146T>C" "2, 121410, 0, 0.00001647" "{PMID:Riveiro-Alvarez 2013:23755871}, {PMID:Sanchez-Alcudia 2014:25342620}" "" "c.5413A>G" "" "Germline" "-" "" "0" "" "" "g.94014590T>C" "" "VUS" ""
"0000124063" "0" "50" "1" "94473266" "94473266" "subst" "8.14677E-6" "01695" "ABCA4_000389" "g.94473266C>T" "1, 120422, 0, 0.000008304" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.5929G>A" "" "Germline" "-" "" "0" "" "" "g.94007710C>T" "" "VUS" ""
"0000124064" "0" "50" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.2588G>C" "" "Germline" "-" "rs76157638" "0" "" "" "g.94051698C>G" "" "VUS" ""
"0000124065" "0" "50" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "30, 121388, 0, 0.0002471" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.3386G>T" "" "Germline" "-" "" "0" "" "" "g.94041345C>A" "" "VUS" ""
"0000124066" "0" "50" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "42, 120772, 0, 0.0003478" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.5714+5G>A" "" "Germline" "-" "" "0" "" "" "g.94010795C>T" "" "VUS" ""
"0000124067" "0" "50" "1" "94467548" "94467548" "subst" "0.00295661" "01695" "ABCA4_000788" "g.94467548C>G" "334, 121350, 0, 0.002752" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.6148G>C" "" "Germline" "-" "" "0" "" "" "g.94001992C>G" "" "VUS" ""
"0000124068" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.5882G>A" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000124069" "0" "50" "1" "94487251" "94487251" "subst" "2.85679E-5" "01695" "ABCA4_000490" "g.94487251G>T" "3, 113672, 0, 0.00002639" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.4793C>A" "" "Germline" "-" "" "0" "" "" "g.94021695G>T" "" "VUS" ""
"0000124070" "0" "90" "1" "94526212" "94526212" "subst" "1.22012E-5" "01695" "ABCA4_000075" "g.94526212G>A" "3, 120836, 0, 0.00002483" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.2041C>T" "" "Germline" "-" "" "0" "" "" "g.94060656G>A" "" "pathogenic" ""
"0000124071" "0" "90" "1" "94508435" "94508436" "dup" "0" "01695" "ABCA4_000998" "g.94508435_94508436dup" "" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.3211_3212insGT" "" "Germline" "?" "" "0" "" "" "g.94042879_94042880dup" "" "pathogenic" ""
"0000124072" "3" "90" "1" "94473278" "94473278" "del" "3.25908E-5" "01695" "ABCA4_000392" "g.94473278del" "" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.5917delG" "" "Germline" "?" "" "0" "" "" "g.94007722del" "" "pathogenic" ""
"0000124073" "0" "90" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "15, 121412, 0, 0.0001235" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.1622T>C" "" "Germline" "-" "" "0" "" "" "g.94063250A>G" "" "pathogenic" ""
"0000124074" "0" "70" "1" "94473278" "94473278" "del" "3.25908E-5" "01695" "ABCA4_000392" "g.94473278del" "" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.5917delG" "" "Germline" "?" "" "0" "" "" "g.94007722del" "" "likely pathogenic" ""
"0000124075" "0" "70" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.5461-10T>C" "" "Germline" "-" "" "0" "" "" "g.94011395A>G" "" "likely pathogenic" ""
"0000124076" "0" "50" "1" "94485279" "94485293" "del" "0" "01695" "ABCA4_000476" "g.94485279_94485293del" "" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.5041_5055del" "" "Germline" "?" "" "0" "" "" "g.94019723_94019737del" "" "VUS" ""
"0000124077" "3" "90" "1" "94473278" "94473278" "del" "3.25908E-5" "01695" "ABCA4_000392" "g.94473278del" "" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.5917delG" "" "Germline" "?" "" "0" "" "" "g.94007722del" "" "pathogenic" ""
"0000124078" "0" "90" "1" "94502295" "94502295" "subst" "0" "01695" "ABCA4_000589" "g.94502295C>T" "" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.3862+1G>A" "" "Germline" "-" "" "0" "" "" "g.94036739C>T" "" "pathogenic" ""
"0000124079" "0" "90" "1" "94466615" "94466615" "subst" "0" "01695" "ABCA4_000836" "g.94466615C>T" "" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.6329G>A" "" "Germline" "?" "" "0" "" "" "g.94001059C>T" "" "pathogenic" ""
"0000124080" "0" "90" "1" "94466624" "94466624" "subst" "0" "01695" "ABCA4_000838" "g.94466624C>G" "" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.6320G>C" "" "Germline" "-" "" "0" "" "" "g.94001068C>G" "" "pathogenic" ""
"0000124081" "0" "70" "1" "94466615" "94466615" "subst" "0" "01695" "ABCA4_000836" "g.94466615C>T" "" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.6329G>A" "" "Germline" "?" "" "0" "" "" "g.94001059C>T" "" "likely pathogenic" ""
"0000124082" "0" "50" "1" "94467517" "94467517" "subst" "0" "01695" "ABCA4_000786" "g.94467517A>C" "" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.6179T>G" "" "Germline" "-" "" "0" "" "" "g.94001961A>C" "" "VUS" ""
"0000124083" "0" "70" "1" "94474323" "94474323" "subst" "2.03034E-5" "01695" "ABCA4_000156" "g.94474323A>G" "1, 121410, 0, 0.000008237" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.5819T>C" "" "Germline" "-" "" "0" "" "" "g.94008767A>G" "" "likely pathogenic" ""
"0000124084" "0" "70" "1" "94506907" "94506907" "subst" "0" "01695" "ABCA4_000624" "g.94506907C>T" "" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.3380G>A" "" "Germline" "?" "" "0" "" "" "g.94041351C>T" "" "likely pathogenic" ""
"0000124085" "0" "70" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "6, 119038, 0, 0.0000504" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.1804C>T" "" "Germline" "-" "" "0" "" "" "g.94062710G>A" "" "likely pathogenic" ""
"0000124086" "0" "70" "1" "94486895" "94486895" "subst" "3.24923E-5" "01695" "ABCA4_000484" "g.94486895C>T" "7, 121398, 0, 0.00005766" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.4919G>A" "" "Germline" "?" "" "0" "" "" "g.94021339C>T" "" "likely pathogenic" ""
"0000124087" "3" "70" "1" "94473266" "94473266" "subst" "8.14677E-6" "01695" "ABCA4_000389" "g.94473266C>T" "1, 120422, 0, 0.000008304" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.5929G>A" "" "Germline" "?" "" "0" "" "" "g.94007710C>T" "" "likely pathogenic" ""
"0000124088" "3" "50" "1" "94496548" "94496548" "subst" "2.43787E-5" "01695" "ABCA4_000088" "g.94496548G>A" "2, 120802, 0, 0.00001656" "{PMID:Riveiro-Alvarez 2013:23755871}, {PMID:Sanchez-Alcudia 2014:25342620}" "" "c.4253+4C>T" "" "Germline" "?" "" "0" "" "" "g.94030992G>A" "" "VUS" ""
"0000124089" "0" "70" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "6, 119038, 0, 0.0000504" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.1804C>T" "" "Germline" "-" "" "0" "" "" "g.94062710G>A" "" "likely pathogenic" ""
"0000124090" "0" "70" "1" "94485279" "94485293" "del" "0" "01695" "ABCA4_000476" "g.94485279_94485293del" "" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.5041_5055del" "" "Germline" "?" "" "0" "" "" "g.94019723_94019737del" "" "likely pathogenic" ""
"0000124091" "0" "70" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "30, 121388, 0, 0.0002471" "{PMID:Riveiro-Alvarez 2013:23755871}, {PMID:Aguirre-Lamban 2009:19959634}" "" "c.3386G>T" "" "Germline" "-" "" "0" "" "" "g.94041345C>A" "" "likely pathogenic" ""
"0000124092" "0" "70" "1" "94466461" "94466461" "subst" "0" "01695" "ABCA4_000825" "g.94466461C>T" "" "{PMID:Riveiro-Alvarez 2013:23755871}, {PMID:Aguirre-Lamban 2009:19959634}" "" "c.6410G>A" "" "Germline" "?" "" "0" "" "" "g.94000905C>T" "" "likely pathogenic" ""
"0000124093" "0" "70" "1" "94586550" "94586550" "subst" "1.21864E-5" "01695" "ABCA4_000037" "g.94586550G>A" "3, 121392, 0, 0.00002471" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.52C>T" "" "Germline" "-" "" "0" "" "" "g.94120994G>A" "" "likely pathogenic" ""
"0000124094" "0" "70" "1" "94467517" "94467517" "subst" "0" "01695" "ABCA4_000786" "g.94467517A>C" "" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.6179T>G" "" "Germline" "?" "" "0" "" "" "g.94001961A>C" "" "likely pathogenic" ""
"0000124095" "3" "70" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "6, 119038, 0, 0.0000504" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.1804C>T" "" "Germline" "?" "" "0" "" "" "g.94062710G>A" "" "likely pathogenic" ""
"0000124096" "3" "90" "1" "94471056" "94471056" "subst" "2.84398E-5" "01695" "ABCA4_000050" "g.94471056G>A" "3, 121402, 0, 0.00002471" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.6088C>T" "" "Germline" "?" "" "0" "" "" "g.94005500G>A" "" "pathogenic" ""
"0000124097" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "15, 121412, 0, 0.0001235" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.1622T>C" "" "Germline" "-" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000124098" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.5882G>A" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000124099" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "30, 121388, 0, 0.0002471" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.3386G>T" "" "Germline" "-" "" "0" "" "" "g.94041345C>A" "" "pathogenic" ""
"0000124100" "0" "70" "1" "94512507" "94512507" "del" "0" "01695" "ABCA4_000155" "g.94512507del" "" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.2888delG" "" "Germline" "?" "" "0" "" "" "g.94046951del" "" "likely pathogenic" ""
"0000124101" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "6, 119038, 0, 0.0000504" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.1804C>T" "" "Germline" "-" "" "0" "" "" "g.94062710G>A" "" "pathogenic" ""
"0000124102" "0" "70" "1" "94497588" "94497588" "subst" "4.153E-6" "01695" "ABCA4_000049" "g.94497588G>A" "1, 117696, 0, 0.000008496" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.3874C>T" "" "Germline" "?" "" "0" "" "" "g.94032032G>A" "" "likely pathogenic" ""
"0000124103" "0" "50" "1" "94528815" "94528815" "subst" "0" "01695" "ABCA4_000301" "g.94528815G>A" "" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.1613C>T" "" "Germline" "-" "" "0" "" "" "g.94063259G>A" "" "VUS" ""
"0000124104" "0" "50" "1" "94467548" "94467548" "subst" "0.00295661" "01695" "ABCA4_000788" "g.94467548C>G" "334, 121350, 0, 0.002752" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.6148G>C" "" "Germline" "-" "" "0" "" "" "g.94001992C>G" "" "VUS" ""
"0000124105" "0" "50" "1" "94496039" "94496039" "subst" "0.00157963" "01695" "ABCA4_000552" "g.94496039C>T" "173, 121380, 1, 0.001425" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.4297G>A" "On its own not significantely found more often in published STGD compared to ExAC (p-value 0.71). However, together with other non-significant variants published related to STGD, they are significantly more often in STGD patients (p-value <0.01)." "Germline" "-" "" "0" "" "" "g.94030483C>T" "" "VUS" ""
"0000124106" "0" "50" "1" "94508435" "94508436" "dup" "0" "01695" "ABCA4_000998" "g.94508435_94508436dup" "" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.3211_3212insGT" "" "Germline" "-" "" "0" "" "" "g.94042879_94042880dup" "" "VUS" ""
"0000124107" "0" "50" "1" "94508435" "94508436" "dup" "0" "01695" "ABCA4_000998" "g.94508435_94508436dup" "" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.3211_3212insGT" "" "Germline" "-" "" "0" "" "" "g.94042879_94042880dup" "" "VUS" ""
"0000124108" "0" "50" "1" "94512507" "94512507" "del" "0" "01695" "ABCA4_000155" "g.94512507del" "" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.2888delG" "" "Germline" "-" "" "0" "" "" "g.94046951del" "" "VUS" ""
"0000124109" "0" "50" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "30, 121388, 0, 0.0002471" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.3386G>T" "" "Germline" "-" "" "0" "" "" "g.94041345C>A" "" "VUS" ""
"0000124110" "0" "50" "1" "94466624" "94466624" "subst" "0" "01695" "ABCA4_000838" "g.94466624C>G" "" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.6320G>C" "" "Germline" "-" "" "0" "" "" "g.94001068C>G" "" "VUS" ""
"0000124111" "0" "50" "1" "94508435" "94508436" "dup" "0" "01695" "ABCA4_000998" "g.94508435_94508436dup" "" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.3211_3212insGT" "" "Germline" "-" "" "0" "" "" "g.94042879_94042880dup" "" "VUS" ""
"0000124112" "0" "50" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "30, 121388, 0, 0.0002471" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.3386G>T" "" "Germline" "-" "" "0" "" "" "g.94041345C>A" "" "VUS" ""
"0000124113" "3" "70" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "30, 121388, 0, 0.0002471" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.3386G>T" "" "Germline" "?" "" "0" "" "" "g.94041345C>A" "" "likely pathogenic" ""
"0000124114" "3" "70" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "30, 121388, 0, 0.0002471" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.3386G>T" "" "Germline" "?" "" "0" "" "" "g.94041345C>A" "" "likely pathogenic" ""
"0000124115" "3" "70" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "30, 121388, 0, 0.0002471" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.3386G>T" "" "Germline" "?" "" "0" "" "" "g.94041345C>A" "" "likely pathogenic" ""
"0000124116" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "30, 121388, 0, 0.0002471" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.3386G>T" "" "Germline" "-" "" "0" "" "" "g.94041345C>A" "" "pathogenic" ""
"0000124117" "0" "70" "1" "94512507" "94512507" "del" "0" "01695" "ABCA4_000155" "g.94512507del" "" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.2888delG" "" "Germline" "?" "" "0" "" "" "g.94046951del" "" "likely pathogenic" ""
"0000124118" "0" "70" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "30, 121388, 0, 0.0002471" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.3386G>T" "" "Germline" "-" "" "0" "" "" "g.94041345C>A" "" "likely pathogenic" ""
"0000124119" "1" "50" "1" "94476890" "94476890" "subst" "4.06227E-6" "01695" "ABCA4_000434" "g.94476890G>C" "" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.[5512C>G; 5882G>A]" "" "Germline" "?" "" "0" "" "" "g.94011334G>C" "" "VUS" ""
"0000124120" "1" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.[5512C>G; 5882G>A]" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000124121" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "30, 121388, 0, 0.0002471" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.3386G>T" "" "Germline" "-" "" "0" "" "" "g.94041345C>A" "" "pathogenic" ""
"0000124122" "0" "70" "1" "94508435" "94508436" "dup" "0" "01695" "ABCA4_000998" "g.94508435_94508436dup" "" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.3211_3212insGT" "" "Germline" "?" "" "0" "" "" "g.94042879_94042880dup" "" "likely pathogenic" ""
"0000124123" "0" "70" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "30, 121388, 0, 0.0002471" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.3386G>T" "" "Germline" "-" "" "0" "" "" "g.94041345C>A" "" "likely pathogenic" ""
"0000124124" "0" "70" "1" "94528238" "94528238" "subst" "4.06769E-6" "01695" "ABCA4_000277" "g.94528238A>G" "1, 120324, 0, 0.000008311" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.1832T>C" "" "Germline" "?" "" "0" "" "" "g.94062682A>G" "" "likely pathogenic" ""
"0000124125" "0" "70" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "30, 121388, 0, 0.0002471" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.3386G>T" "" "Germline" "-" "" "0" "" "" "g.94041345C>A" "" "likely pathogenic" ""
"0000124126" "0" "70" "1" "94509026" "94509026" "subst" "4.06497E-5" "01695" "ABCA4_000660" "g.94509026G>A" "5, 120988, 0, 0.00004133" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.3056C>T" "" "Germline" "?" "" "0" "" "" "g.94043470G>A" "" "likely pathogenic" ""
"0000124127" "0" "70" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "30, 121388, 0, 0.0002471" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.3386G>T" "" "Germline" "-" "" "0" "" "" "g.94041345C>A" "" "likely pathogenic" ""
"0000124128" "0" "70" "1" "94467517" "94467517" "subst" "0" "01695" "ABCA4_000786" "g.94467517A>C" "" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.6179T>G" "" "Germline" "?" "" "0" "" "" "g.94001961A>C" "" "likely pathogenic" ""
"0000124129" "0" "70" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "30, 121388, 0, 0.0002471" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.3386G>T" "" "Germline" "-" "" "0" "" "" "g.94041345C>A" "" "likely pathogenic" ""
"0000124130" "0" "70" "1" "94509026" "94509026" "subst" "4.06497E-5" "01695" "ABCA4_000660" "g.94509026G>A" "5, 120988, 0, 0.00004133" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.3056C>T" "" "Germline" "?" "" "0" "" "" "g.94043470G>A" "" "likely pathogenic" ""
"0000124131" "0" "70" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "30, 121388, 0, 0.0002471" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.3386G>T" "" "Germline" "-" "" "0" "" "" "g.94041345C>A" "" "likely pathogenic" ""
"0000124132" "0" "70" "1" "94480164" "94480164" "subst" "0" "01695" "ABCA4_000440" "g.94480164T>C" "" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.5395A>G" "" "Germline" "?" "" "0" "" "" "g.94014608T>C" "" "likely pathogenic" ""
"0000124133" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "30, 121388, 0, 0.0002471" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.3386G>T" "" "Germline" "-" "" "0" "" "" "g.94041345C>A" "" "pathogenic" ""
"0000124134" "0" "70" "1" "94512507" "94512507" "del" "0" "01695" "ABCA4_000155" "g.94512507del" "" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.2888delG" "" "Germline" "?" "" "0" "" "" "g.94046951del" "" "likely pathogenic" ""
"0000124135" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "30, 121388, 0, 0.0002471" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.3386G>T" "" "Germline" "-" "" "0" "" "" "g.94041345C>A" "" "pathogenic" ""
"0000124136" "0" "70" "1" "94546098" "94546111" "del" "0" "01695" "ABCA4_000022" "g.94546098_94546111del" "" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.1022_1035delAAGACAATAACTAT" "" "Germline" "?" "" "0" "" "" "g.94080542_94080555del" "" "likely pathogenic" ""
"0000124137" "0" "70" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "30, 121388, 0, 0.0002471" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.3386G>T" "" "Germline" "-" "" "0" "" "" "g.94041345C>A" "" "likely pathogenic" ""
"0000124138" "0" "70" "1" "94474323" "94474323" "subst" "2.03034E-5" "01695" "ABCA4_000156" "g.94474323A>G" "1, 121410, 0, 0.000008237" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.5819T>C" "" "Germline" "?" "" "0" "" "" "g.94008767A>G" "" "likely pathogenic" ""
"0000124139" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "30, 121388, 0, 0.0002471" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.3386G>T" "" "Germline" "-" "" "0" "" "" "g.94041345C>A" "" "pathogenic" ""
"0000124140" "0" "70" "1" "94568687" "94568687" "subst" "1.62641E-5" "01695" "ABCA4_000024" "g.94568687G>A" "1, 120844, 0, 0.000008275" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.454C>T" "" "Germline" "?" "" "0" "" "" "g.94103131G>A" "" "likely pathogenic" ""
"0000124141" "0" "70" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "30, 121388, 0, 0.0002471" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.3386G>T" "" "Germline" "-" "" "0" "" "" "g.94041345C>A" "" "likely pathogenic" ""
"0000124142" "0" "70" "1" "94485279" "94485293" "del" "0" "01695" "ABCA4_000476" "g.94485279_94485293del" "" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.5041_5055del" "" "Germline" "?" "" "0" "" "" "g.94019723_94019737del" "" "likely pathogenic" ""
"0000124143" "0" "70" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "30, 121388, 0, 0.0002471" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.3386G>T" "" "Germline" "-" "" "0" "" "" "g.94041345C>A" "" "likely pathogenic" ""
"0000124144" "0" "70" "1" "94466422" "94466422" "subst" "2.43651E-5" "01695" "ABCA4_000817" "g.94466422C>T" "3, 121398, 0, 0.00002471" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.6449G>A" "" "Germline" "?" "" "0" "" "" "g.94000866C>T" "" "likely pathogenic" ""
"0000124145" "0" "50" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "30, 121388, 0, 0.0002471" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.3386G>T" "" "Germline" "-" "" "0" "" "" "g.94041345C>A" "" "VUS" ""
"0000124146" "0" "70" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.5461-10T>C" "" "Germline" "?" "" "0" "" "" "g.94011395A>G" "" "likely pathogenic" ""
"0000124147" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "30, 121388, 0, 0.0002471" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.3386G>T" "" "Germline" "-" "" "0" "" "" "g.94041345C>A" "" "pathogenic" ""
"0000124148" "0" "70" "1" "94526212" "94526212" "subst" "1.22012E-5" "01695" "ABCA4_000075" "g.94526212G>A" "3, 120836, 0, 0.00002483" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.2041C>T" "" "Germline" "?" "" "0" "" "" "g.94060656G>A" "" "likely pathogenic" ""
"0000124149" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "30, 121388, 0, 0.0002471" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.3386G>T" "" "Germline" "-" "" "0" "" "" "g.94041345C>A" "" "pathogenic" ""
"0000124150" "0" "70" "1" "94544895" "94544895" "subst" "1.62455E-5" "01695" "ABCA4_000329" "g.94544895G>A" "3, 121410, 0, 0.00002471" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.1222C>T" "" "Germline" "?" "" "0" "" "" "g.94079339G>A" "" "likely pathogenic" ""
"0000124151" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "30, 121388, 0, 0.0002471" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.3386G>T" "" "Germline" "-" "" "0" "" "" "g.94041345C>A" "" "pathogenic" ""
"0000124152" "0" "70" "1" "94512507" "94512507" "del" "0" "01695" "ABCA4_000155" "g.94512507del" "" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.2888delG" "" "Germline" "?" "" "0" "" "" "g.94046951del" "" "likely pathogenic" ""
"0000124153" "0" "50" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "30, 121388, 0, 0.0002471" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.3386G>T" "" "Germline" "-" "" "0" "" "" "g.94041345C>A" "" "VUS" ""
"0000124154" "0" "70" "1" "94522152" "94522152" "subst" "0" "01695" "ABCA4_000731" "g.94522152C>G" "" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.2382+5G>C" "" "Germline" "?" "" "0" "" "" "g.94056596C>G" "" "likely pathogenic" ""
"0000124155" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "30, 121388, 0, 0.0002471" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.3386G>T" "" "Germline" "-" "" "0" "" "" "g.94041345C>A" "" "pathogenic" ""
"0000124156" "0" "70" "1" "94586599" "94586599" "subst" "0" "01695" "ABCA4_000261" "g.94586599C>T" "3, 121340, 0, 0.00002472" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.3G>A" "On its own not significantely found more often in published STGD compared to ExAC (p-value 0.12). However, together with other non-significant variants published related to STGD, they are significantly more often in STGD patients (p-value <0.01)." "Germline" "?" "" "0" "" "" "g.94121043C>T" "" "likely pathogenic" ""
"0000124157" "0" "70" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "30, 121388, 0, 0.0002471" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.3386G>T" "" "Germline" "-" "" "0" "" "" "g.94041345C>A" "" "likely pathogenic" ""
"0000124158" "0" "70" "1" "94526296" "94526296" "subst" "1.64555E-5" "01695" "ABCA4_000768" "g.94526296G>A" "1, 96614, 0, 0.00001035" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.1957C>T" "" "Germline" "?" "" "0" "" "" "g.94060740G>A" "" "likely pathogenic" ""
"0000124159" "0" "70" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "30, 121388, 0, 0.0002471" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.3386G>T" "" "Germline" "-" "" "0" "" "" "g.94041345C>A" "" "likely pathogenic" ""
"0000124160" "0" "70" "1" "94476853" "94476853" "subst" "4.06243E-6" "01695" "ABCA4_000429" "g.94476853A>G" "1, 121164, 0, 0.000008253" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.5549T>C" "" "Germline" "?" "" "0" "" "" "g.94011297A>G" "" "likely pathogenic" ""
"0000124161" "0" "70" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "30, 121388, 0, 0.0002471" "{PMID:Riveiro-Alvarez 2013:23755871}, {PMID:Aguirre-Lamban 2009:19959634}" "" "c.3386G>T" "" "Germline" "-" "" "0" "" "" "g.94041345C>A" "" "likely pathogenic" ""
"0000124162" "0" "70" "1" "94466461" "94466461" "subst" "0" "01695" "ABCA4_000825" "g.94466461C>T" "" "{PMID:Riveiro-Alvarez 2013:23755871}, {PMID:Aguirre-Lamban 2009:19959634}" "" "c.6410G>A" "" "Germline" "?" "" "0" "" "" "g.94000905C>T" "" "likely pathogenic" ""
"0000124163" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "30, 121388, 0, 0.0002471" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.3386G>T" "" "Germline" "-" "" "0" "" "" "g.94041345C>A" "" "pathogenic" ""
"0000124164" "0" "70" "1" "94526212" "94526212" "subst" "1.22012E-5" "01695" "ABCA4_000075" "g.94526212G>A" "3, 120836, 0, 0.00002483" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.2041C>T" "" "Germline" "?" "" "0" "" "" "g.94060656G>A" "" "likely pathogenic" ""
"0000124165" "0" "70" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "30, 121388, 0, 0.0002471" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.3386G>T" "" "Germline" "-" "" "0" "" "" "g.94041345C>A" "" "likely pathogenic" ""
"0000124166" "0" "70" "1" "94474323" "94474323" "subst" "2.03034E-5" "01695" "ABCA4_000156" "g.94474323A>G" "1, 121410, 0, 0.000008237" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.5819T>C" "" "Germline" "?" "" "0" "" "" "g.94008767A>G" "" "likely pathogenic" ""
"0000124167" "0" "70" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "30, 121388, 0, 0.0002471" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.3386G>T" "" "Germline" "-" "" "0" "" "" "g.94041345C>A" "" "likely pathogenic" ""
"0000124168" "0" "70" "1" "94473266" "94473266" "subst" "8.14677E-6" "01695" "ABCA4_000389" "g.94473266C>T" "1, 120422, 0, 0.000008304" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.5929G>A" "" "Germline" "?" "" "0" "" "" "g.94007710C>T" "" "likely pathogenic" ""
"0000124169" "0" "70" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "30, 121388, 0, 0.0002471" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.3386G>T" "" "Germline" "-" "" "0" "" "" "g.94041345C>A" "" "likely pathogenic" ""
"0000124170" "0" "70" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "6, 119038, 0, 0.0000504" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.1804C>T" "" "Germline" "?" "" "0" "" "" "g.94062710G>A" "" "likely pathogenic" ""
"0000124171" "0" "70" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "30, 121388, 0, 0.0002471" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.3386G>T" "" "Germline" "-" "" "0" "" "" "g.94041345C>A" "" "likely pathogenic" ""
"0000124172" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "24, 119274, 0, 0.0002012" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.4139C>T" "" "Germline" "?" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic" ""
"0000124173" "0" "70" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "30, 121388, 0, 0.0002471" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.3386G>T" "" "Germline" "-" "" "0" "" "" "g.94041345C>A" "" "likely pathogenic" ""
"0000124174" "0" "70" "1" "94467467" "94467467" "subst" "4.06164E-6" "01695" "ABCA4_000780" "g.94467467G>A" "" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.6229C>T" "" "Germline" "?" "" "0" "" "" "g.94001911G>A" "" "likely pathogenic" ""
"0000124175" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "30, 121388, 0, 0.0002471" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.3386G>T" "" "Germline" "-" "" "0" "" "" "g.94041345C>A" "" "pathogenic" ""
"0000124176" "0" "70" "1" "94512507" "94512507" "del" "0" "01695" "ABCA4_000155" "g.94512507del" "" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.2888delG" "" "Germline" "?" "" "0" "" "" "g.94046951del" "" "likely pathogenic" ""
"0000124177" "0" "70" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "30, 121388, 0, 0.0002471" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.3386G>T" "" "Germline" "-" "" "0" "" "" "g.94041345C>A" "" "likely pathogenic" ""
"0000124178" "0" "70" "1" "94528251" "94528251" "subst" "2.84824E-5" "01695" "ABCA4_000281" "g.94528251C>T" "3, 119908, 0, 0.00002502" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.1819G>A" "" "Germline" "?" "" "0" "" "" "g.94062695C>T" "" "likely pathogenic" ""
"0000124179" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "30, 121388, 0, 0.0002471" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.3386G>T" "" "Germline" "-" "" "0" "" "" "g.94041345C>A" "" "pathogenic" ""
"0000124180" "0" "70" "1" "94564321" "94564376" "del" "0" "01695" "ABCA4_000364" "g.94564321_94564376del" "" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.742_768+29del56bp" "" "Germline" "?" "" "0" "" "" "g.94098765_94098820del" "" "likely pathogenic" ""
"0000124181" "0" "70" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "30, 121388, 0, 0.0002471" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.3386G>T" "" "Germline" "-" "" "0" "" "" "g.94041345C>A" "" "likely pathogenic" ""
"0000124182" "0" "70" "1" "94476426" "94476426" "subst" "0" "01695" "ABCA4_000420" "g.94476426T>C" "" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.5644A>G" "" "Germline" "?" "" "0" "" "" "g.94010870T>C" "" "likely pathogenic" ""
"0000124183" "0" "70" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "30, 121388, 0, 0.0002471" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.3386G>T" "" "Germline" "-" "" "0" "" "" "g.94041345C>A" "" "likely pathogenic" ""
"0000124184" "0" "70" "1" "94473266" "94473266" "subst" "8.14677E-6" "01695" "ABCA4_000389" "g.94473266C>T" "1, 120422, 0, 0.000008304" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.5929G>A" "" "Germline" "?" "" "0" "" "" "g.94007710C>T" "" "likely pathogenic" ""
"0000124185" "0" "70" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "30, 121388, 0, 0.0002471" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.3386G>T" "" "Germline" "-" "" "0" "" "" "g.94041345C>A" "" "likely pathogenic" ""
"0000124186" "0" "70" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "6, 119038, 0, 0.0000504" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.1804C>T" "" "Germline" "?" "" "0" "" "" "g.94062710G>A" "" "likely pathogenic" ""
"0000124187" "0" "70" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "30, 121388, 0, 0.0002471" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.3386G>T" "" "Germline" "-" "" "0" "" "" "g.94041345C>A" "" "likely pathogenic" ""
"0000124188" "0" "70" "1" "94473266" "94473266" "subst" "8.14677E-6" "01695" "ABCA4_000389" "g.94473266C>T" "1, 120422, 0, 0.000008304" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.5929G>A" "" "Germline" "?" "" "0" "" "" "g.94007710C>T" "" "likely pathogenic" ""
"0000124189" "0" "70" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "30, 121388, 0, 0.0002471" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.3386G>T" "" "Germline" "-" "" "0" "" "" "g.94041345C>A" "" "likely pathogenic" ""
"0000124190" "0" "70" "1" "94586550" "94586550" "subst" "1.21864E-5" "01695" "ABCA4_000037" "g.94586550G>A" "3, 121392, 0, 0.00002471" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.52C>T" "" "Germline" "?" "" "0" "" "" "g.94120994G>A" "" "likely pathogenic" ""
"0000124191" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "30, 121388, 0, 0.0002471" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.3386G>T" "" "Germline" "-" "" "0" "" "" "g.94041345C>A" "" "pathogenic" ""
"0000124192" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "42, 120772, 0, 0.0003478" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.5714+5G>A" "" "Germline" "?" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic" ""
"0000124193" "0" "70" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "30, 121388, 0, 0.0002471" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.3386G>T" "" "Germline" "-" "" "0" "" "" "g.94041345C>A" "" "likely pathogenic" ""
"0000124194" "0" "70" "1" "94528819" "94528819" "subst" "2.03128E-5" "01695" "ABCA4_000078" "g.94528819G>A" "2, 121412, 0, 0.00001647" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.1609C>T" "" "Germline" "?" "" "0" "" "" "g.94063263G>A" "" "likely pathogenic" ""
"0000124195" "0" "70" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "30, 121388, 0, 0.0002471" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.3386G>T" "" "Germline" "-" "" "0" "" "" "g.94041345C>A" "" "likely pathogenic" ""
"0000124196" "1" "50" "1" "94476890" "94476890" "subst" "4.06227E-6" "01695" "ABCA4_000434" "g.94476890G>C" "" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.[5512C>G; 5882G>A]" "" "Germline" "?" "" "0" "" "" "g.94011334G>C" "" "VUS" ""
"0000124197" "1" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.[5512C>G; 5882G>A]" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000124198" "0" "50" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "30, 121388, 0, 0.0002471" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.3386G>T" "" "Germline" "-" "" "0" "" "" "g.94041345C>A" "" "VUS" ""
"0000124199" "0" "70" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.5461-10T>C" "" "Germline" "?" "" "0" "" "" "g.94011395A>G" "" "likely pathogenic" ""
"0000124200" "0" "70" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "30, 121388, 0, 0.0002471" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.3386G>T" "" "Germline" "-" "" "0" "" "" "g.94041345C>A" "" "likely pathogenic" ""
"0000124201" "0" "70" "1" "94495083" "94495083" "subst" "0.000124542" "01695" "ABCA4_000542" "g.94495083G>A" "11, 77176, 0, 0.0001425" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.4457C>T" "" "Germline" "?" "" "0" "" "" "g.94029527G>A" "" "likely pathogenic" ""
"0000124202" "0" "70" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "30, 121388, 0, 0.0002471" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.3386G>T" "" "Germline" "-" "" "0" "" "" "g.94041345C>A" "" "likely pathogenic" ""
"0000124203" "0" "70" "1" "94509026" "94509026" "subst" "4.06497E-5" "01695" "ABCA4_000660" "g.94509026G>A" "5, 120988, 0, 0.00004133" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.3056C>T" "" "Germline" "?" "" "0" "" "" "g.94043470G>A" "" "likely pathogenic" ""
"0000124204" "0" "70" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "30, 121388, 0, 0.0002471" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.3386G>T" "" "Germline" "-" "" "0" "" "" "g.94041345C>A" "" "likely pathogenic" ""
"0000124205" "0" "70" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "14, 120056, 0, 0.0001166" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.634C>T" "" "Germline" "?" "" "0" "" "" "g.94098928G>A" "" "likely pathogenic" ""
"0000124206" "0" "70" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "30, 121388, 0, 0.0002471" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.3386G>T" "" "Germline" "-" "" "0" "" "" "g.94041345C>A" "" "likely pathogenic" ""
"0000124207" "0" "70" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "14, 120056, 0, 0.0001166" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.634C>T" "" "Germline" "?" "" "0" "" "" "g.94098928G>A" "" "likely pathogenic" ""
"0000124208" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "30, 121388, 0, 0.0002471" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.3386G>T" "" "Germline" "-" "" "0" "" "" "g.94041345C>A" "" "pathogenic" ""
"0000124209" "0" "70" "1" "94466615" "94466615" "subst" "0" "01695" "ABCA4_000836" "g.94466615C>T" "" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.6329G>A" "" "Germline" "?" "" "0" "" "" "g.94001059C>T" "" "likely pathogenic" ""
"0000124210" "0" "70" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "30, 121388, 0, 0.0002471" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.3386G>T" "" "Germline" "-" "" "0" "" "" "g.94041345C>A" "" "likely pathogenic" ""
"0000124211" "0" "70" "1" "94473266" "94473266" "subst" "8.14677E-6" "01695" "ABCA4_000389" "g.94473266C>T" "1, 120422, 0, 0.000008304" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.5929G>A" "" "Germline" "?" "" "0" "" "" "g.94007710C>T" "" "likely pathogenic" ""
"0000124212" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "30, 121388, 0, 0.0002471" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.3386G>T" "" "Germline" "-" "" "0" "" "" "g.94041345C>A" "" "pathogenic" ""
"0000124213" "0" "70" "1" "94528304" "94528304" "subst" "0" "01695" "ABCA4_000288" "g.94528304C>T" "" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.1766G>A" "" "Germline" "?" "" "0" "" "" "g.94062748C>T" "" "likely pathogenic" ""
"0000124214" "3" "50" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.[3322C>T; 6320G>A]" "" "Germline" "?" "" "0" "" "" "g.94042767G>A" "" "VUS" ""
"0000124215" "3" "70" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.[3322C>T; 6320G>A]" "" "Germline" "?" "" "0" "" "" "g.94001068C>T" "" "likely pathogenic" ""
"0000124216" "1" "50" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.[3322C>T; 6320G>A]" "" "Germline" "-" "" "0" "" "" "g.94042767G>A" "" "VUS" ""
"0000124217" "1" "70" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.[3322C>T; 6320G>A]" "" "Germline" "-" "" "0" "" "" "g.94001068C>T" "" "likely pathogenic" ""
"0000124218" "0" "70" "1" "94466624" "94466624" "subst" "0" "01695" "ABCA4_000838" "g.94466624C>G" "" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.6320G>C" "" "Germline" "?" "" "0" "" "" "g.94001068C>G" "" "likely pathogenic" ""
"0000124219" "1" "50" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.[3322C>T; 6320G>A]" "" "Germline" "-" "" "0" "" "" "g.94042767G>A" "" "VUS" ""
"0000124220" "1" "70" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.[3322C>T; 6320G>A]" "" "Germline" "-" "" "0" "" "" "g.94001068C>T" "" "likely pathogenic" ""
"0000124221" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.5582G>A" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000124222" "1" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.[2588G>C; c.3163C>T]" "" "Germline" "-" "rs76157638" "0" "" "" "g.94051698C>G" "" "pathogenic" ""
"0000124223" "1" "90" "1" "94508919" "94508919" "subst" "7.31707E-5" "01695" "ABCA4_000653" "g.94508919G>A" "" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.[2588G>C; c.3163C>T]" "" "Germline" "-" "" "0" "" "" "g.94043363G>A" "" "pathogenic" ""
"0000124224" "0" "90" "1" "94512507" "94512507" "del" "0" "01695" "ABCA4_000155" "g.94512507del" "" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.2888delG" "" "Germline" "?" "" "0" "" "" "g.94046951del" "" "pathogenic" ""
"0000124225" "1" "50" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.[3322C>T; 6320G>A]" "" "Germline" "-" "" "0" "" "" "g.94042767G>A" "" "VUS" ""
"0000124226" "1" "70" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.[3322C>T; 6320G>A]" "" "Germline" "-" "" "0" "" "" "g.94001068C>T" "" "likely pathogenic" ""
"0000124227" "0" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "12, 60116, 0, 0.0001996" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.4469G>A" "" "Germline" "?" "" "0" "" "" "g.94029515C>T" "" "likely pathogenic" ""
"0000124228" "0" "70" "1" "94528675" "94528677" "delins" "0" "01695" "ABCA4_000291" "g.94528675_94528677delinsAT" "" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.[1751T>A; 1753delA]" "" "Germline" "-" "" "0" "" "" "g.94063119_94063121delinsAT" "" "likely pathogenic" ""
"0000124229" "0" "90" "1" "94467517" "94467517" "subst" "0" "01695" "ABCA4_000786" "g.94467517A>C" "" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.6179T>G" "" "Germline" "?" "" "0" "" "" "g.94001961A>C" "" "pathogenic" ""
"0000124230" "1" "50" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.[3322C>T; 6320G>A]" "" "Germline" "-" "" "0" "" "" "g.94042767G>A" "" "VUS" ""
"0000124231" "1" "90" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.[3322C>T; 6320G>A]" "" "Germline" "-" "" "0" "" "" "g.94001068C>T" "" "pathogenic" ""
"0000124232" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "42, 120772, 0, 0.0003478" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.5714+5G>A" "" "Germline" "?" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic" ""
"0000124233" "1" "50" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.[3322C>T; 6320G>A]" "" "Germline" "-" "" "0" "" "" "g.94042767G>A" "" "VUS" ""
"0000124234" "1" "70" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.[3322C>T; 6320G>A]" "" "Germline" "-" "" "0" "" "" "g.94001068C>T" "" "likely pathogenic" ""
"0000124235" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.5582G>A" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000124236" "1" "70" "1" "94502756" "94502756" "subst" "0.000422575" "01695" "ABCA4_000032" "g.94502756G>A" "" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.[3758C>T; 5582G>A]" "" "Germline" "-" "" "0" "" "" "g.94037200G>A" "" "likely pathogenic" ""
"0000124237" "1" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.[3758C>T; 5582G>A]" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "pathogenic" ""
"0000124238" "0" "70" "1" "94497519" "94497519" "subst" "0" "01695" "ABCA4_000585" "g.94497519G>A" "" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.3943C>T" "" "Germline" "?" "" "0" "" "" "g.94031963G>A" "" "likely pathogenic" ""
"0000124239" "1" "50" "1" "94496583" "94496583" "subst" "2.03092E-5" "01695" "ABCA4_000190" "g.94496583A>G" "" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.[4222T>C; 4918C>T]" "" "Germline" "-" "" "0" "" "" "g.94031027A>G" "" "VUS" ""
"0000124240" "1" "70" "1" "94486896" "94486896" "subst" "3.65562E-5" "01695" "ABCA4_000085" "g.94486896G>A" "" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.[4222T>C; 4918C>T]" "" "Germline" "-" "" "0" "" "" "g.94021340G>A" "" "likely pathogenic" ""
"0000124241" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.5582G>A" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000124242" "0" "90" "1" "94473266" "94473266" "subst" "8.14677E-6" "01695" "ABCA4_000389" "g.94473266C>T" "1, 120422, 0, 0.000008304" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.5929G>A" "" "Germline" "-" "" "0" "" "" "g.94007710C>T" "" "pathogenic" ""
"0000124243" "0" "70" "1" "94546151" "94546151" "subst" "4.06855E-6" "01695" "ABCA4_000347" "g.94546151C>A" "" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.982G>T" "" "Germline" "?" "" "0" "" "" "g.94080595C>A" "" "likely pathogenic" ""
"0000124244" "3" "50" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.5461-10T>C" "" "Germline" "?" "" "0" "" "" "g.94011395A>G" "" "VUS" ""
"0000124245" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "14, 121282, 0, 0.0001154" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.3322C>T" "" "Germline" "-" "" "0" "" "" "g.94042767G>A" "" "pathogenic" ""
"0000124246" "0" "70" "1" "94546151" "94546151" "subst" "4.06855E-6" "01695" "ABCA4_000347" "g.94546151C>A" "" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.982G>T" "" "Germline" "?" "" "0" "" "" "g.94080595C>A" "" "likely pathogenic" ""
"0000124247" "0" "90" "1" "94496605" "94496605" "subst" "0" "01695" "ABCA4_000570" "g.94496605G>T" "" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.4200C>A" "" "Germline" "-" "" "0" "" "" "g.94031049G>T" "" "pathogenic" ""
"0000124248" "0" "90" "1" "94486794" "94486794" "subst" "0" "01695" "ABCA4_000478" "g.94486794A>G" "" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.5018+2T>C" "" "Germline" "?" "" "0" "" "" "g.94021238A>G" "" "pathogenic" ""
"0000124249" "3" "70" "1" "94474323" "94474323" "subst" "2.03034E-5" "01695" "ABCA4_000156" "g.94474323A>G" "1, 121410, 0, 0.000008237" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.5819T>C" "" "Germline" "?" "" "0" "" "" "g.94008767A>G" "" "likely pathogenic" ""
"0000124250" "0" "90" "1" "94508435" "94508436" "dup" "0" "01695" "ABCA4_000998" "g.94508435_94508436dup" "" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.3211_3212insGT" "" "Germline" "-" "" "0" "" "" "g.94042879_94042880dup" "" "pathogenic" ""
"0000124251" "0" "90" "1" "94526212" "94526212" "subst" "1.22012E-5" "01695" "ABCA4_000075" "g.94526212G>A" "3, 120836, 0, 0.00002483" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.2041C>T" "" "Germline" "?" "" "0" "" "" "g.94060656G>A" "" "pathogenic" ""
"0000124252" "3" "70" "1" "94466461" "94466461" "subst" "0" "01695" "ABCA4_000825" "g.94466461C>T" "" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.6410G>A" "" "Germline" "?" "" "0" "" "" "g.94000905C>T" "" "likely pathogenic" ""
"0000124253" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.5582G>A" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "pathogenic" ""
"0000124254" "0" "70" "1" "94487508" "94487508" "subst" "0" "01695" "ABCA4_000508" "g.94487508C>T" "" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.4668-1G>A" "" "Germline" "?" "" "0" "" "" "g.94021952C>T" "" "likely pathogenic" ""
"0000124255" "0" "90" "1" "94509026" "94509026" "subst" "4.06497E-5" "01695" "ABCA4_000660" "g.94509026G>A" "5, 120988, 0, 0.00004133" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.3056C>T" "" "Germline" "-" "" "0" "" "" "g.94043470G>A" "" "pathogenic" ""
"0000124256" "0" "70" "1" "94497519" "94497519" "subst" "0" "01695" "ABCA4_000585" "g.94497519G>A" "" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.3943C>T" "" "Germline" "?" "" "0" "" "" "g.94031963G>A" "" "likely pathogenic" ""
"0000124257" "0" "90" "1" "94512602" "94512602" "subst" "0.000369717" "01695" "ABCA4_000052" "g.94512602C>T" "59, 120896, 0, 0.000488" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.2791G>A" "" "Germline" "-" "" "0" "" "" "g.94047046C>T" "" "pathogenic" ""
"0000124258" "0" "70" "1" "94508435" "94508436" "dup" "0" "01695" "ABCA4_000998" "g.94508435_94508436dup" "" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.3211_3212insGT" "" "Germline" "?" "" "0" "" "" "g.94042879_94042880dup" "" "likely pathogenic" ""
"0000124259" "0" "90" "1" "94466624" "94466624" "subst" "0" "01695" "ABCA4_000838" "g.94466624C>G" "" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.6320G>C" "" "Germline" "-" "" "0" "" "" "g.94001068C>G" "" "pathogenic" ""
"0000124260" "0" "70" "1" "94508435" "94508436" "dup" "0" "01695" "ABCA4_000998" "g.94508435_94508436dup" "" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.3211_3212insGT" "" "Germline" "?" "" "0" "" "" "g.94042879_94042880dup" "" "likely pathogenic" ""
"0000124261" "3" "50" "1" "94496548" "94496548" "subst" "2.43787E-5" "01695" "ABCA4_000088" "g.94496548G>A" "2, 120802, 0, 0.00001656" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.4253+4C>T" "" "Germline" "?" "" "0" "" "" "g.94030992G>A" "" "VUS" ""
"0000124262" "0" "90" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "15, 121412, 0, 0.0001235" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.1622T>C" "" "Germline" "-" "" "0" "" "" "g.94063250A>G" "" "pathogenic" ""
"0000124263" "0" "70" "1" "94496571" "94496571" "subst" "4.06174E-6" "01695" "ABCA4_000111" "g.94496571G>A" "" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.4234C>T" "" "Germline" "?" "" "0" "" "" "g.94031015G>A" "" "likely pathogenic" ""
"0000124264" "3" "70" "1" "94485279" "94485293" "del" "0" "01695" "ABCA4_000476" "g.94485279_94485293del" "" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.5041_5055del" "" "Germline" "?" "" "0" "" "" "g.94019723_94019737del" "" "likely pathogenic" ""
"0000124265" "0" "70" "1" "94474323" "94474323" "subst" "2.03034E-5" "01695" "ABCA4_000156" "g.94474323A>G" "1, 121410, 0, 0.000008237" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.5819T>C" "" "Germline" "-" "" "0" "" "" "g.94008767A>G" "" "likely pathogenic" ""
"0000124266" "0" "70" "1" "94466422" "94466422" "subst" "2.43651E-5" "01695" "ABCA4_000817" "g.94466422C>T" "3, 121398, 0, 0.00002471" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.6449G>A" "" "Germline" "?" "" "0" "" "" "g.94000866C>T" "" "likely pathogenic" ""
"0000124267" "0" "70" "1" "94474323" "94474323" "subst" "2.03034E-5" "01695" "ABCA4_000156" "g.94474323A>G" "1, 121410, 0, 0.000008237" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.5819T>C" "" "Germline" "-" "" "0" "" "" "g.94008767A>G" "" "likely pathogenic" ""
"0000124268" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.5582G>A" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000124269" "0" "90" "1" "94463583" "94463583" "subst" "8.12183E-6" "01695" "ABCA4_000806" "g.94463583A>G" "2, 121380, 0, 0.00001648" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.6563T>C" "" "Germline" "-" "" "0" "" "" "g.93998027A>G" "" "pathogenic" ""
"0000124270" "0" "70" "1" "94508435" "94508436" "dup" "0" "01695" "ABCA4_000998" "g.94508435_94508436dup" "" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.3211_3212insGT" "" "Germline" "?" "" "0" "" "" "g.94042879_94042880dup" "" "likely pathogenic" ""
"0000124271" "0" "70" "1" "94506923" "94506923" "subst" "2.43657E-5" "01695" "ABCA4_000012" "g.94506923C>T" "3, 121394, 0, 0.00002471" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.3364G>A" "" "Germline" "-" "" "0" "" "" "g.94041367C>T" "" "likely pathogenic" ""
"0000124272" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.5582G>A" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000124273" "0" "90" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "24, 119274, 0, 0.0002012" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.4139C>T" "" "Germline" "-" "" "0" "" "" "g.94031110G>A" "" "pathogenic" ""
"0000124274" "0" "70" "1" "94508435" "94508436" "dup" "0" "01695" "ABCA4_000998" "g.94508435_94508436dup" "" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.3211_3212insGT" "" "Germline" "?" "" "0" "" "" "g.94042879_94042880dup" "" "likely pathogenic" ""
"0000124275" "0" "90" "1" "94510253" "94510253" "subst" "0.000247694" "01695" "ABCA4_000108" "g.94510253A>G" "36, 121412, 0, 0.0002965" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.2966T>C" "" "Germline" "-" "" "0" "" "" "g.94044697A>G" "" "pathogenic" ""
"0000124276" "0" "70" "1" "94497474" "94497474" "subst" "0" "01695" "ABCA4_000583" "g.94497474C>A" "" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.3988G>T" "" "Germline" "?" "" "0" "" "" "g.94031918C>A" "" "likely pathogenic" ""
"0000124277" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.5582G>A" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "pathogenic" ""
"0000124278" "0" "70" "1" "94495009" "94495009" "dup" "0" "01695" "ABCA4_000087" "g.94495009dup" "" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.4537_4538insC" "" "Germline" "?" "" "0" "" "" "g.94029453dup" "" "likely pathogenic" ""
"0000124279" "0" "70" "1" "94466422" "94466422" "subst" "2.43651E-5" "01695" "ABCA4_000817" "g.94466422C>T" "3, 121398, 0, 0.00002471" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.6449G>A" "" "Germline" "-" "" "0" "" "" "g.94000866C>T" "" "likely pathogenic" ""
"0000124280" "0" "70" "1" "94485279" "94485293" "del" "0" "01695" "ABCA4_000476" "g.94485279_94485293del" "" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.5041_5055del" "" "Germline" "?" "" "0" "" "" "g.94019723_94019737del" "" "likely pathogenic" ""
"0000124281" "0" "70" "1" "94508353" "94508353" "subst" "2.8431E-5" "01695" "ABCA4_000141" "g.94508353G>A" "4, 121358, 0, 0.00003296" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.3292C>T" "" "Germline" "-" "" "0" "" "" "g.94042797G>A" "" "likely pathogenic" ""
"0000124282" "0" "70" "1" "94486895" "94486895" "subst" "3.24923E-5" "01695" "ABCA4_000484" "g.94486895C>T" "7, 121398, 0, 0.00005766" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.4919G>A" "" "Germline" "?" "" "0" "" "" "g.94021339C>T" "" "likely pathogenic" ""
"0000124283" "0" "70" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "6, 119038, 0, 0.0000504" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.1804C>T" "" "Germline" "-" "" "0" "" "" "g.94062710G>A" "" "likely pathogenic" ""
"0000124284" "0" "70" "1" "94508358" "94508358" "subst" "4.06167E-6" "01695" "ABCA4_000636" "g.94508358G>A" "1, 121358, 0, 0.00000824" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.3287C>T" "" "Germline" "?" "" "0" "" "" "g.94042802G>A" "" "likely pathogenic" ""
"0000124285" "0" "70" "1" "94486896" "94486896" "subst" "3.65562E-5" "01695" "ABCA4_000085" "g.94486896G>A" "1, 121394, 0, 0.000008238" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.4918C>T" "" "Germline" "-" "" "0" "" "" "g.94021340G>A" "" "likely pathogenic" ""
"0000124286" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.5582G>A" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000124287" "0" "90" "1" "94485279" "94485293" "del" "0" "01695" "ABCA4_000476" "g.94485279_94485293del" "" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.5041_5055del" "" "Germline" "-" "" "0" "" "" "g.94019723_94019737del" "" "pathogenic" ""
"0000124288" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "42, 120772, 0, 0.0003478" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.5714+5G>A" "" "Germline" "?" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic" ""
"0000124289" "0" "90" "1" "94495083" "94495083" "subst" "0.000124542" "01695" "ABCA4_000542" "g.94495083G>A" "11, 77176, 0, 0.0001425" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.4457C>T" "" "Germline" "-" "" "0" "" "" "g.94029527G>A" "" "pathogenic" ""
"0000124290" "0" "70" "1" "94544895" "94544895" "subst" "1.62455E-5" "01695" "ABCA4_000329" "g.94544895G>A" "3, 121410, 0, 0.00002471" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.1222C>T" "" "Germline" "?" "" "0" "" "" "g.94079339G>A" "" "likely pathogenic" ""
"0000124291" "0" "70" "1" "94526196" "94526196" "subst" "0" "01695" "ABCA4_000757" "g.94526196A>G" "" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.2057T>C" "" "Germline" "-" "" "0" "" "" "g.94060640A>G" "" "likely pathogenic" ""
"0000124292" "0" "70" "1" "94497393" "94497393" "subst" "2.04188E-5" "01695" "ABCA4_000578" "g.94497393C>T" "4, 121362, 0, 0.00003296" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.4069G>A" "" "Germline" "?" "" "0" "" "" "g.94031837C>T" "" "likely pathogenic" ""
"0000124293" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.5582G>A" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "pathogenic" ""
"0000124294" "0" "70" "1" "94497461" "94497462" "del" "0" "01695" "ABCA4_000581" "g.94497461_94497462del" "" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.4000_4001delCC" "" "Germline" "?" "" "0" "" "" "g.94031905_94031906del" "" "likely pathogenic" ""
"0000124295" "0" "50" "1" "94497393" "94497393" "subst" "2.04188E-5" "01695" "ABCA4_000578" "g.94497393C>T" "4, 121362, 0, 0.00003296" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.4069G>A" "" "Germline" "-" "" "0" "" "" "g.94031837C>T" "" "VUS" ""
"0000124296" "0" "70" "1" "94496547" "94496547" "subst" "1.21904E-5" "01695" "ABCA4_000560" "g.94496547C>T" "" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.4253+5G>A" "" "Germline" "?" "" "0" "" "" "g.94030991C>T" "" "likely pathogenic" ""
"0000124297" "0" "70" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "14, 120056, 0, 0.0001166" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.634C>T" "" "Germline" "-" "" "0" "" "" "g.94098928G>A" "" "likely pathogenic" ""
"0000124298" "0" "70" "1" "94473266" "94473266" "subst" "8.14677E-6" "01695" "ABCA4_000389" "g.94473266C>T" "1, 120422, 0, 0.000008304" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.5929G>A" "" "Germline" "?" "" "0" "" "" "g.94007710C>T" "" "likely pathogenic" ""
"0000124299" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.5582G>A" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000124300" "0" "70" "1" "94467517" "94467517" "subst" "0" "01695" "ABCA4_000786" "g.94467517A>C" "" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.6179T>G" "" "Germline" "?" "" "0" "" "" "g.94001961A>C" "" "likely pathogenic" ""
"0000124301" "0" "70" "1" "94487251" "94487251" "subst" "2.85679E-5" "01695" "ABCA4_000490" "g.94487251G>T" "3, 113672, 0, 0.00002639" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.4793C>A" "" "Germline" "-" "" "0" "" "" "g.94021695G>T" "" "likely pathogenic" ""
"0000124302" "0" "70" "1" "94474323" "94474323" "subst" "2.03034E-5" "01695" "ABCA4_000156" "g.94474323A>G" "1, 121410, 0, 0.000008237" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.5819T>C" "" "Germline" "?" "" "0" "" "" "g.94008767A>G" "" "likely pathogenic" ""
"0000124303" "0" "90" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "24, 119274, 0, 0.0002012" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.4139C>T" "" "Germline" "-" "" "0" "" "" "g.94031110G>A" "" "pathogenic" ""
"0000124304" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "42, 120772, 0, 0.0003478" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.5714+5G>A" "" "Germline" "?" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic" ""
"0000124305" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.2588G>C" "" "Germline" "-" "rs76157638" "0" "" "" "g.94051698C>G" "" "likely pathogenic" ""
"0000124306" "0" "90" "1" "94467517" "94467517" "subst" "0" "01695" "ABCA4_000786" "g.94467517A>C" "" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.6179T>G" "" "Germline" "?" "" "0" "" "" "g.94001961A>C" "" "pathogenic" ""
"0000124307" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.5582G>A" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000124308" "0" "70" "1" "94476871" "94476871" "subst" "0" "01695" "ABCA4_000432" "g.94476871C>T" "" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.5531G>A" "" "Germline" "?" "" "0" "" "" "g.94011315C>T" "" "likely pathogenic" ""
"0000124309" "0" "70" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "6, 119038, 0, 0.0000504" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.1804C>T" "" "Germline" "-" "" "0" "" "" "g.94062710G>A" "" "likely pathogenic" ""
"0000124310" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.5582G>A" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000124311" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "6, 119038, 0, 0.0000504" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.1804C>T" "" "Germline" "-" "" "0" "" "" "g.94062710G>A" "" "pathogenic" ""
"0000124312" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "42, 120772, 0, 0.0003478" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.5714+5G>A" "" "Germline" "?" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic" ""
"0000124313" "0" "70" "1" "94509026" "94509026" "subst" "4.06497E-5" "01695" "ABCA4_000660" "g.94509026G>A" "5, 120988, 0, 0.00004133" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.3056C>T" "" "Germline" "-" "" "0" "" "" "g.94043470G>A" "" "likely pathogenic" ""
"0000124314" "0" "70" "1" "94508322" "94508322" "subst" "1.62513E-5" "01695" "ABCA4_000128" "g.94508322C>T" "2, 121288, 0, 0.00001649" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.3323G>A" "" "Germline" "?" "" "0" "" "" "g.94042766C>T" "" "likely pathogenic" ""
"0000124315" "0" "90" "1" "94508322" "94508322" "subst" "1.62513E-5" "01695" "ABCA4_000128" "g.94508322C>T" "2, 121288, 0, 0.00001649" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.3323G>A" "" "Germline" "-" "" "0" "" "" "g.94042766C>T" "" "pathogenic" ""
"0000124316" "0" "70" "1" "94502295" "94502295" "subst" "0" "01695" "ABCA4_000589" "g.94502295C>T" "" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.3862+1G>A" "" "Germline" "?" "" "0" "" "" "g.94036739C>T" "" "likely pathogenic" ""
"0000124317" "0" "70" "1" "94496039" "94496039" "subst" "0.00157963" "01695" "ABCA4_000552" "g.94496039C>T" "173, 121380, 1, 0.001425" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.4297G>A" "On its own not significantely found more often in published STGD compared to ExAC (p-value 0.71). However, together with other non-significant variants published related to STGD, they are significantly more often in STGD patients (p-value <0.01)." "Germline" "-" "" "0" "" "" "g.94030483C>T" "" "likely pathogenic" ""
"0000124318" "0" "30" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.5582G>A" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "likely benign" ""
"0000124319" "0" "90" "1" "94512602" "94512602" "subst" "0.000369717" "01695" "ABCA4_000052" "g.94512602C>T" "59, 120896, 0, 0.000488" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.2791G>A" "" "Germline" "-" "" "0" "" "" "g.94047046C>T" "" "pathogenic" ""
"0000124320" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "42, 120772, 0, 0.0003478" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.5714+5G>A" "" "Germline" "?" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic" ""
"0000124321" "3" "70" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "21, 121302, 0, 0.0001731" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.2894A>G" "" "Germline" "?" "" "0" "" "" "g.94046943T>C" "" "likely pathogenic" ""
"0000124322" "0" "90" "1" "94495083" "94495083" "subst" "0.000124542" "01695" "ABCA4_000542" "g.94495083G>A" "11, 77176, 0, 0.0001425" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.4457C>T" "" "Germline" "-" "" "0" "" "" "g.94029527G>A" "" "pathogenic" ""
"0000124323" "0" "70" "1" "94508435" "94508436" "dup" "0" "01695" "ABCA4_000998" "g.94508435_94508436dup" "" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.3211_3212insGT" "" "Germline" "?" "" "0" "" "" "g.94042879_94042880dup" "" "likely pathogenic" ""
"0000124324" "0" "50" "1" "94528836" "94528836" "subst" "6.50068E-5" "01695" "ABCA4_000079" "g.94528836T>C" "8, 121408, 0, 0.00006589" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.1592A>G" "" "Germline" "-" "" "0" "" "" "g.94063280T>C" "" "VUS" ""
"0000124325" "0" "70" "1" "94496548" "94496548" "subst" "2.43787E-5" "01695" "ABCA4_000088" "g.94496548G>A" "2, 120802, 0, 0.00001656" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.4253+4C>T" "" "Germline" "?" "" "0" "" "" "g.94030992G>A" "" "likely pathogenic" ""
"0000124326" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.5582G>A" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000124327" "0" "70" "1" "94467517" "94467517" "subst" "0" "01695" "ABCA4_000786" "g.94467517A>C" "" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.6179T>G" "" "Germline" "?" "" "0" "" "" "g.94001961A>C" "" "likely pathogenic" ""
"0000124328" "0" "70" "1" "94508435" "94508436" "dup" "0" "01695" "ABCA4_000998" "g.94508435_94508436dup" "" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.3211_3212insGT" "" "Germline" "-" "" "0" "" "" "g.94042879_94042880dup" "" "likely pathogenic" ""
"0000124329" "0" "90" "1" "94508364" "94508364" "subst" "0" "01695" "ABCA4_000637" "g.94508364G>C" "" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.3281C>G" "" "Germline" "?" "" "0" "" "" "g.94042808G>C" "" "pathogenic" ""
"0000124330" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.2588G>C" "" "Germline" "-" "rs76157638" "0" "" "" "g.94051698C>G" "" "pathogenic" ""
"0000124331" "0" "90" "1" "94495009" "94495009" "dup" "0" "01695" "ABCA4_000087" "g.94495009dup" "" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.4537_4538insC" "" "Germline" "?" "" "0" "" "" "g.94029453dup" "" "pathogenic" ""
"0000124332" "0" "70" "1" "94508435" "94508436" "dup" "0" "01695" "ABCA4_000998" "g.94508435_94508436dup" "" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.3211_3212insGT" "" "Germline" "-" "" "0" "" "" "g.94042879_94042880dup" "" "likely pathogenic" ""
"0000124333" "0" "90" "1" "94473808" "94473808" "subst" "8.52861E-5" "01695" "ABCA4_000196" "g.94473808C>T" "" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.5881G>A" "" "Germline" "?" "" "0" "" "" "g.94008252C>T" "" "pathogenic" ""
"0000124334" "0" "70" "1" "94495083" "94495083" "subst" "0.000124542" "01695" "ABCA4_000542" "g.94495083G>A" "11, 77176, 0, 0.0001425" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.4457C>T" "" "Germline" "-" "" "0" "" "" "g.94029527G>A" "" "likely pathogenic" ""
"0000124335" "0" "70" "1" "94473266" "94473266" "subst" "8.14677E-6" "01695" "ABCA4_000389" "g.94473266C>T" "1, 120422, 0, 0.000008304" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.5929G>A" "" "Germline" "?" "" "0" "" "" "g.94007710C>T" "" "likely pathogenic" ""
"0000124336" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.5582G>A" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000124337" "0" "70" "1" "94467517" "94467517" "subst" "0" "01695" "ABCA4_000786" "g.94467517A>C" "" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.6179T>G" "" "Germline" "?" "" "0" "" "" "g.94001961A>C" "" "likely pathogenic" ""
"0000124338" "0" "90" "1" "94508353" "94508353" "subst" "2.8431E-5" "01695" "ABCA4_000141" "g.94508353G>A" "4, 121358, 0, 0.00003296" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.3292C>T" "" "Germline" "-" "" "0" "" "" "g.94042797G>A" "" "pathogenic" ""
"0000124339" "0" "70" "1" "94487401" "94487401" "subst" "0" "01695" "ABCA4_000495" "g.94487401C>A" "" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.4773+1G>T" "" "Germline" "?" "" "0" "" "" "g.94021845C>A" "" "likely pathogenic" ""
"0000124340" "0" "70" "1" "94486896" "94486896" "subst" "3.65562E-5" "01695" "ABCA4_000085" "g.94486896G>A" "1, 121394, 0, 0.000008238" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.4918C>T" "" "Germline" "-" "" "0" "" "" "g.94021340G>A" "" "likely pathogenic" ""
"0000124341" "0" "70" "1" "94568684" "94568684" "subst" "0" "01695" "ABCA4_000211" "g.94568684T>A" "" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.457A>T" "" "Germline" "?" "" "0" "" "" "g.94103128T>A" "" "likely pathogenic" ""
"0000124342" "0" "70" "1" "94476890" "94476890" "subst" "4.06227E-6" "01695" "ABCA4_000434" "g.94476890G>C" "" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.5512C>G" "" "Germline" "-" "" "0" "" "" "g.94011334G>C" "" "likely pathogenic" ""
"0000124343" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.5582G>A" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000124344" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.2588G>C" "" "Germline" "-" "rs76157638" "0" "" "" "g.94051698C>G" "" "pathogenic" ""
"0000124345" "0" "90" "1" "94470995" "94470995" "subst" "0" "01695" "ABCA4_000183" "g.94470995A>T" "" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.6147+2T>A" "" "Germline" "?" "" "0" "" "" "g.94005439A>T" "" "pathogenic" ""
"0000124346" "0" "70" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "6, 119038, 0, 0.0000504" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.1804C>T" "" "Germline" "-" "" "0" "" "" "g.94062710G>A" "" "likely pathogenic" ""
"0000124347" "0" "70" "1" "94495083" "94495083" "subst" "0.000124542" "01695" "ABCA4_000542" "g.94495083G>A" "11, 77176, 0, 0.0001425" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.4457C>T" "" "Germline" "?" "" "0" "" "" "g.94029527G>A" "" "likely pathogenic" ""
"0000124348" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.5582G>A" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "pathogenic" ""
"0000124349" "0" "70" "1" "94546098" "94546111" "del" "0" "01695" "ABCA4_000022" "g.94546098_94546111del" "" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.1022_1035delAAGACAATAACTAT" "" "Germline" "?" "" "0" "" "" "g.94080542_94080555del" "" "likely pathogenic" ""
"0000124350" "0" "90" "1" "94490567" "94490567" "subst" "5.68528E-5" "01695" "ABCA4_000026" "g.94490567G>A" "4, 121406, 0, 0.00003295" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.4577C>T" "" "Germline" "-" "" "0" "" "" "g.94025011G>A" "" "pathogenic" ""
"0000124351" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "42, 120772, 0, 0.0003478" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.5714+5G>A" "" "Germline" "?" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic" ""
"0000124352" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "24, 119274, 0, 0.0002012" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.4139C>T" "" "Germline" "-" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic" ""
"0000124353" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.5582G>A" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000124354" "0" "70" "1" "94466422" "94466422" "subst" "2.43651E-5" "01695" "ABCA4_000817" "g.94466422C>T" "3, 121398, 0, 0.00002471" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.6449G>A" "" "Germline" "-" "" "0" "" "" "g.94000866C>T" "" "likely pathogenic" ""
"0000124355" "0" "70" "1" "94467466" "94467466" "subst" "8.12328E-6" "01695" "ABCA4_000779" "g.94467466C>T" "" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.6230G>A" "" "Germline" "?" "" "0" "" "" "g.94001910C>T" "" "likely pathogenic" ""
"0000124356" "0" "70" "1" "94508322" "94508322" "subst" "1.62513E-5" "01695" "ABCA4_000128" "g.94508322C>T" "2, 121288, 0, 0.00001649" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.3323G>A" "" "Germline" "-" "" "0" "" "" "g.94042766C>T" "" "likely pathogenic" ""
"0000124357" "0" "70" "1" "94485279" "94485293" "del" "0" "01695" "ABCA4_000476" "g.94485279_94485293del" "" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.5041_5055del" "" "Germline" "?" "" "0" "" "" "g.94019723_94019737del" "" "likely pathogenic" ""
"0000124358" "0" "70" "1" "94474323" "94474323" "subst" "2.03034E-5" "01695" "ABCA4_000156" "g.94474323A>G" "1, 121410, 0, 0.000008237" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.5819T>C" "" "Germline" "-" "" "0" "" "" "g.94008767A>G" "" "likely pathogenic" ""
"0000124359" "0" "70" "1" "94471055" "94471055" "subst" "0.00035346" "01695" "ABCA4_000029" "g.94471055C>T" "47, 121404, 1, 0.0003871" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.6089G>A" "" "Germline" "?" "" "0" "" "" "g.94005499C>T" "" "likely pathogenic" ""
"0000124360" "0" "70" "1" "94486895" "94486895" "subst" "3.24923E-5" "01695" "ABCA4_000484" "g.94486895C>T" "7, 121398, 0, 0.00005766" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.4919G>A" "" "Germline" "-" "" "0" "" "" "g.94021339C>T" "" "likely pathogenic" ""
"0000124361" "0" "70" "1" "94474323" "94474323" "subst" "2.03034E-5" "01695" "ABCA4_000156" "g.94474323A>G" "1, 121410, 0, 0.000008237" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.5819T>C" "" "Germline" "?" "" "0" "" "" "g.94008767A>G" "" "likely pathogenic" ""
"0000124362" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.2588G>C" "" "Germline" "-" "rs76157638" "0" "" "" "g.94051698C>G" "" "pathogenic" ""
"0000124363" "0" "90" "1" "94471026" "94471026" "subst" "1.21925E-5" "01695" "ABCA4_000791" "g.94471026G>A" "2, 121394, 0, 0.00001648" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.6118C>T" "" "Germline" "?" "" "0" "" "" "g.94005470G>A" "" "pathogenic" ""
"0000124364" "0" "70" "1" "94474323" "94474323" "subst" "2.03034E-5" "01695" "ABCA4_000156" "g.94474323A>G" "1, 121410, 0, 0.000008237" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.5819T>C" "" "Germline" "-" "" "0" "" "" "g.94008767A>G" "" "likely pathogenic" ""
"0000124365" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.5582G>A" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000124366" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.5582G>A" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "pathogenic" ""
"0000124367" "0" "70" "1" "94528714" "94528714" "subst" "0" "01695" "ABCA4_000296" "g.94528714G>A" "" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.1714C>T" "" "Germline" "?" "" "0" "" "" "g.94063158G>A" "" "likely pathogenic" ""
"0000124368" "0" "70" "1" "94506923" "94506923" "subst" "2.43657E-5" "01695" "ABCA4_000012" "g.94506923C>T" "3, 121394, 0, 0.00002471" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.3364G>A" "" "Germline" "-" "" "0" "" "" "g.94041367C>T" "" "likely pathogenic" ""
"0000124369" "0" "70" "1" "94546262" "94546262" "subst" "0" "01695" "ABCA4_000354" "g.94546262G>C" "" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.871C>G" "" "Germline" "?" "" "0" "" "" "g.94080706G>C" "" "likely pathogenic" ""
"0000124370" "0" "50" "1" "94463428" "94463428" "subst" "1.62621E-5" "01695" "ABCA4_000854" "g.94463428T>C" "2, 121086, 0, 0.00001652" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.6718A>G" "" "Germline" "-" "" "0" "" "" "g.93997872T>C" "" "VUS" ""
"0000124371" "0" "70" "1" "94496547" "94496547" "subst" "1.21904E-5" "01695" "ABCA4_000560" "g.94496547C>T" "" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.4253+5G>A" "" "Germline" "?" "" "0" "" "" "g.94030991C>T" "" "likely pathogenic" ""
"0000124372" "0" "90" "1" "94471055" "94471055" "subst" "0.00035346" "01695" "ABCA4_000029" "g.94471055C>T" "47, 121404, 1, 0.0003871" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.6089G>A" "" "Germline" "-" "" "0" "" "" "g.94005499C>T" "" "pathogenic" ""
"0000124373" "0" "70" "1" "94564383" "94564383" "subst" "0" "01695" "ABCA4_000371" "g.94564383A>C" "" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.735T>G" "" "Germline" "?" "" "0" "" "" "g.94098827A>C" "" "likely pathogenic" ""
"0000124374" "0" "50" "1" "94496548" "94496548" "subst" "2.43787E-5" "01695" "ABCA4_000088" "g.94496548G>A" "2, 120802, 0, 0.00001656" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.4253+4C>T" "" "Germline" "-" "" "0" "" "" "g.94030992G>A" "" "VUS" ""
"0000124375" "0" "90" "1" "94528251" "94528251" "subst" "2.84824E-5" "01695" "ABCA4_000281" "g.94528251C>T" "3, 119908, 0, 0.00002502" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.1819G>A" "" "Germline" "-" "" "0" "" "" "g.94062695C>T" "" "pathogenic" ""
"0000124376" "0" "50" "1" "94467548" "94467548" "subst" "0.00295661" "01695" "ABCA4_000788" "g.94467548C>G" "334, 121350, 0, 0.002752" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.6148G>C" "" "Germline" "-" "" "0" "" "" "g.94001992C>G" "" "VUS" ""
"0000124377" "0" "50" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "30, 121388, 0, 0.0002471" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.3386G>T" "" "Germline" "-" "" "0" "" "" "g.94041345C>A" "" "VUS" ""
"0000124378" "0" "50" "1" "94509026" "94509026" "subst" "4.06497E-5" "01695" "ABCA4_000660" "g.94509026G>A" "5, 120988, 0, 0.00004133" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.3056C>T" "" "Germline" "-" "" "0" "" "" "g.94043470G>A" "" "VUS" ""
"0000124379" "0" "50" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "42, 120772, 0, 0.0003478" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.5714+5G>A" "" "Germline" "-" "" "0" "" "" "g.94010795C>T" "" "VUS" ""
"0000124380" "0" "50" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "30, 121388, 0, 0.0002471" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.3386G>T" "" "Germline" "-" "" "0" "" "" "g.94041345C>A" "" "VUS" ""
"0000124381" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.5582G>A" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000124382" "0" "50" "1" "94512602" "94512602" "subst" "0.000369717" "01695" "ABCA4_000052" "g.94512602C>T" "59, 120896, 0, 0.000488" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.2791G>A" "" "Germline" "-" "" "0" "" "" "g.94047046C>T" "" "VUS" ""
"0000124383" "0" "50" "1" "94496039" "94496039" "subst" "0.00157963" "01695" "ABCA4_000552" "g.94496039C>T" "173, 121380, 1, 0.001425" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.4297G>A" "On its own not significantely found more often in published STGD compared to ExAC (p-value 0.71). However, together with other non-significant variants published related to STGD, they are significantly more often in STGD patients (p-value <0.01)." "Germline" "-" "" "0" "" "" "g.94030483C>T" "" "VUS" ""
"0000124384" "0" "50" "1" "94512602" "94512602" "subst" "0.000369717" "01695" "ABCA4_000052" "g.94512602C>T" "59, 120896, 0, 0.000488" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.2791G>A" "" "Germline" "-" "" "0" "" "" "g.94047046C>T" "" "VUS" ""
"0000124385" "0" "50" "1" "94473266" "94473266" "subst" "8.14677E-6" "01695" "ABCA4_000389" "g.94473266C>T" "1, 120422, 0, 0.000008304" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.5929G>A" "" "Germline" "-" "" "0" "" "" "g.94007710C>T" "" "VUS" ""
"0000124386" "0" "50" "1" "94474381" "94474381" "subst" "1.21849E-5" "01695" "ABCA4_000410" "g.94474381C>T" "2, 121412, 0, 0.00001647" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.5761G>A" "" "Germline" "-" "" "0" "" "" "g.94008825C>T" "" "VUS" ""
"0000124387" "0" "50" "1" "94463425" "94463425" "subst" "0.000109787" "01695" "ABCA4_000853" "g.94463425G>C" "20, 121058, 0, 0.0001652" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.6721C>G" "On its own not significantely found more often in published STGD compared to ExAC (p-value 0.77). However, together with other non-significant variants published related to STGD, they are significantly more often in STGD patients (p-value <0.01)." "Germline" "-" "" "0" "" "" "g.93997869G>C" "" "VUS" ""
"0000124388" "0" "50" "1" "94470995" "94470995" "subst" "0" "01695" "ABCA4_000183" "g.94470995A>T" "" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.6147+2T>A" "" "Germline" "-" "" "0" "" "" "g.94005439A>T" "" "VUS" ""
"0000124389" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.5582G>A" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000124390" "0" "50" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "30, 121388, 0, 0.0002471" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.3386G>T" "" "Germline" "-" "" "0" "" "" "g.94041345C>A" "" "VUS" ""
"0000124391" "0" "50" "1" "94528713" "94528713" "subst" "0" "01695" "ABCA4_000295" "g.94528713C>G" "" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.1715G>C" "" "Germline" "-" "" "0" "" "" "g.94063157C>G" "" "VUS" ""
"0000124392" "0" "50" "1" "94508353" "94508353" "subst" "2.8431E-5" "01695" "ABCA4_000141" "g.94508353G>A" "4, 121358, 0, 0.00003296" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.3292C>T" "" "Germline" "-" "" "0" "" "" "g.94042797G>A" "" "VUS" ""
"0000124393" "0" "50" "1" "94470995" "94470995" "subst" "0" "01695" "ABCA4_000183" "g.94470995A>T" "" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.6147+2T>A" "" "Germline" "-" "" "0" "" "" "g.94005439A>T" "" "VUS" ""
"0000124394" "0" "50" "1" "94512602" "94512602" "subst" "0.000369717" "01695" "ABCA4_000052" "g.94512602C>T" "59, 120896, 0, 0.000488" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.2791G>A" "" "Germline" "-" "" "0" "" "" "g.94047046C>T" "" "VUS" ""
"0000124395" "0" "50" "1" "94473281" "94473281" "subst" "0" "01695" "ABCA4_000393" "g.94473281C>T" "" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.5914G>A" "" "Germline" "-" "" "0" "" "" "g.94007725C>T" "" "VUS" ""
"0000124396" "0" "50" "1" "94508435" "94508436" "dup" "0" "01695" "ABCA4_000998" "g.94508435_94508436dup" "" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.3211_3212insGT" "" "Germline" "-" "" "0" "" "" "g.94042879_94042880dup" "" "VUS" ""
"0000124397" "0" "50" "1" "94508435" "94508436" "dup" "0" "01695" "ABCA4_000998" "g.94508435_94508436dup" "" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.3211_3212insGT" "" "Germline" "-" "" "0" "" "" "g.94042879_94042880dup" "" "VUS" ""
"0000124398" "0" "50" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "227, 121250, 3, 0.001872" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.6320G>A" "" "Germline" "-" "" "0" "" "" "g.94001068C>T" "" "VUS" ""
"0000124399" "0" "50" "1" "94508435" "94508436" "dup" "0" "01695" "ABCA4_000998" "g.94508435_94508436dup" "" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.3211_3212insGT" "" "Germline" "-" "" "0" "" "" "g.94042879_94042880dup" "" "VUS" ""
"0000124400" "0" "50" "1" "94467548" "94467548" "subst" "0.00295661" "01695" "ABCA4_000788" "g.94467548C>G" "334, 121350, 0, 0.002752" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.6148G>C" "" "Germline" "-" "" "0" "" "" "g.94001992C>G" "" "VUS" ""
"0000124401" "0" "50" "1" "94496039" "94496039" "subst" "0.00157963" "01695" "ABCA4_000552" "g.94496039C>T" "173, 121380, 1, 0.001425" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.4297G>A" "On its own not significantely found more often in published STGD compared to ExAC (p-value 0.71). However, together with other non-significant variants published related to STGD, they are significantly more often in STGD patients (p-value <0.01)." "Germline" "-" "" "0" "" "" "g.94030483C>T" "" "VUS" ""
"0000124402" "0" "50" "1" "94467548" "94467548" "subst" "0.00295661" "01695" "ABCA4_000788" "g.94467548C>G" "334, 121350, 0, 0.002752" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.6148G>C" "" "Germline" "-" "" "0" "" "" "g.94001992C>G" "" "VUS" ""
"0000124403" "0" "50" "1" "94495083" "94495083" "subst" "0.000124542" "01695" "ABCA4_000542" "g.94495083G>A" "11, 77176, 0, 0.0001425" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.4457C>T" "" "Germline" "-" "" "0" "" "" "g.94029527G>A" "" "VUS" ""
"0000124404" "0" "50" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "30, 121388, 0, 0.0002471" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.3386G>T" "" "Germline" "-" "" "0" "" "" "g.94041345C>A" "" "VUS" ""
"0000124405" "0" "50" "1" "94496547" "94496547" "subst" "1.21904E-5" "01695" "ABCA4_000560" "g.94496547C>T" "" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.4253+5G>A" "" "Germline" "-" "" "0" "" "" "g.94030991C>T" "" "VUS" ""
"0000124406" "0" "50" "1" "94486895" "94486895" "subst" "3.24923E-5" "01695" "ABCA4_000484" "g.94486895C>T" "7, 121398, 0, 0.00005766" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.4919G>A" "" "Germline" "-" "" "0" "" "" "g.94021339C>T" "" "VUS" ""
"0000124407" "0" "50" "1" "94496547" "94496547" "subst" "1.21904E-5" "01695" "ABCA4_000560" "g.94496547C>T" "" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.4253+5G>A" "" "Germline" "-" "" "0" "" "" "g.94030991C>T" "" "VUS" ""
"0000124408" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "15, 121412, 0, 0.0001235" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.1622T>C" "" "Germline" "-" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000124409" "0" "50" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "14, 120056, 0, 0.0001166" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.634C>T" "" "Germline" "-" "" "0" "" "" "g.94098928G>A" "" "VUS" ""
"0000124410" "0" "50" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.5461-10T>C" "" "Germline" "-" "" "0" "" "" "g.94011395A>G" "" "VUS" ""
"0000124411" "0" "50" "1" "94568687" "94568687" "subst" "1.62641E-5" "01695" "ABCA4_000024" "g.94568687G>A" "1, 120844, 0, 0.000008275" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.454C>T" "" "Germline" "-" "" "0" "" "" "g.94103131G>A" "" "VUS" ""
"0000124412" "0" "50" "1" "94474323" "94474323" "subst" "2.03034E-5" "01695" "ABCA4_000156" "g.94474323A>G" "1, 121410, 0, 0.000008237" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.5819T>C" "" "Germline" "-" "" "0" "" "" "g.94008767A>G" "" "VUS" ""
"0000124413" "0" "50" "1" "94486896" "94486896" "subst" "3.65562E-5" "01695" "ABCA4_000085" "g.94486896G>A" "1, 121394, 0, 0.000008238" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.4918C>T" "" "Germline" "-" "" "0" "" "" "g.94021340G>A" "" "VUS" ""
"0000124414" "0" "50" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "30, 121388, 0, 0.0002471" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.3386G>T" "" "Germline" "-" "" "0" "" "" "g.94041345C>A" "" "VUS" ""
"0000124415" "0" "50" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "30, 121388, 0, 0.0002471" "{PMID:Riveiro-Alvarez 2013:23755871}" "" "c.3386G>T" "" "Germline" "-" "" "0" "" "" "g.94041345C>A" "" "VUS" ""
"0000124416" "3" "70" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "14, 120056, 0, 0.0001166" "{PMID:Fujinami 2013:23769331}" "" "c.634C>TC2C2256:C2316" "" "Germline" "?" "" "0" "" "" "g.94098928G>A" "" "likely pathogenic" ""
"0000124417" "3" "70" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "14, 120056, 0, 0.0001166" "{PMID:Fujinami 2013:23769331}" "" "c.634C>T" "" "Germline" "?" "" "0" "" "" "g.94098928G>A" "" "likely pathogenic" ""
"0000124418" "3" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Fujinami 2013:23769331}" "" "c.1622T>C, c.3113C>T" "" "Germline" "?" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000124419" "3" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Fujinami 2013:23769331}" "" "c.1622T>C, c.3113C>T" "" "Germline" "?" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic" ""
"0000124420" "3" "90" "1" "94514455" "94514455" "del" "0" "01695" "ABCA4_000699" "g.94514455del" "" "{PMID:Fujinami 2013:23769331}" "" "c.2713delG" "" "Germline" "?" "" "0" "" "" "g.94048899del" "" "pathogenic" ""
"0000124421" "3" "70" "1" "94512602" "94512602" "subst" "0.000369717" "01695" "ABCA4_000052" "g.94512602C>T" "" "{PMID:Fujinami 2013:23769331}" "" "c.2791G>A, c.5114G>A" "" "Germline" "?" "" "0" "" "" "g.94047046C>T" "" "likely pathogenic" ""
"0000124422" "3" "70" "1" "94485220" "94485220" "subst" "0.000106324" "01695" "ABCA4_000121" "g.94485220C>T" "" "{PMID:Fujinami 2013:23769331}" "" "c.2791G>A, c.5114G>A" "" "Germline" "?" "" "0" "" "" "g.94019664C>T" "" "likely pathogenic" ""
"0000124423" "3" "70" "1" "94495078" "94495078" "subst" "8.37044E-6" "01695" "ABCA4_000042" "g.94495078A>G" "1, 70400, 0, 0.0000142" "{PMID:Fujinami 2013:23769331}" "" "c.4462T>C" "" "Germline" "?" "" "0" "" "" "g.94029522A>G" "" "likely pathogenic" ""
"0000124424" "3" "70" "1" "94495078" "94495078" "subst" "8.37044E-6" "01695" "ABCA4_000042" "g.94495078A>G" "1, 70400, 0, 0.0000142" "{PMID:Fujinami 2013:23769331}" "" "c.4462T>C" "" "Germline" "?" "" "0" "" "" "g.94029522A>G" "" "likely pathogenic" ""
"0000124425" "3" "70" "1" "94486896" "94486896" "subst" "3.65562E-5" "01695" "ABCA4_000085" "g.94486896G>A" "1, 121394, 0, 0.000008238" "{PMID:Fujinami 2013:23769331}" "" "c.4918C>T" "" "Germline" "?" "" "0" "" "" "g.94021340G>A" "" "likely pathogenic" ""
"0000124426" "3" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Fujinami 2013:23769331}" "" "c.5882G>A" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000124427" "3" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Fujinami 2013:23769331}" "" "c.5882G>A" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000124428" "3" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Fujinami 2013:23769331}" "" "c.5882G>A" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000124429" "3" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "26, 121404, 0, 0.0002142" "{PMID:Fujinami 2013:23769331}" "" "c.6079C>T" "" "Germline" "?" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic" ""
"0000124430" "3" "90" "1" "94497564" "94497564" "subst" "1.64383E-5" "01695" "ABCA4_000091" "g.94497564G>A" "4, 118564, 0, 0.00003374" "{PMID:Fujinami 2013:23769331}" "" "c.3898C>T" "" "Germline" "?" "" "0" "" "" "g.94032008G>A" "" "pathogenic" ""
"0000124431" "3" "50" "1" "94496548" "94496548" "subst" "2.43787E-5" "01695" "ABCA4_000088" "g.94496548G>A" "2, 120802, 0, 0.00001656" "{PMID:Fujinami 2013:23769331}" "" "c.4253+4C>T" "" "Germline" "?" "" "0" "" "" "g.94030992G>A" "" "VUS" ""
"0000124432" "3" "90" "1" "94463488" "94463488" "subst" "5.2803E-5" "01695" "ABCA4_000802" "g.94463488G>A" "6, 121316, 0, 0.00004946" "{PMID:Fujinami 2013:23769331}" "" "c.6658C>T" "" "Germline" "?" "" "0" "" "" "g.93997932G>A" "" "pathogenic" ""
"0000124433" "3" "90" "1" "94463488" "94463488" "subst" "5.2803E-5" "01695" "ABCA4_000802" "g.94463488G>A" "6, 121316, 0, 0.00004946" "{PMID:Fujinami 2013:23769331}" "" "c.6658C>T" "" "Germline" "?" "" "0" "" "" "g.93997932G>A" "" "pathogenic" ""
"0000124434" "3" "90" "1" "94463488" "94463488" "subst" "5.2803E-5" "01695" "ABCA4_000802" "g.94463488G>A" "6, 121316, 0, 0.00004946" "{PMID:Fujinami 2013:23769331}" "" "c.6658C>T" "" "Germline" "?" "" "0" "" "" "g.93997932G>A" "" "pathogenic" ""
"0000124435" "3" "90" "1" "94463488" "94463488" "subst" "5.2803E-5" "01695" "ABCA4_000802" "g.94463488G>A" "6, 121316, 0, 0.00004946" "{PMID:Fujinami 2013:23769331}" "" "c.6658C>T" "" "Germline" "?" "" "0" "" "" "g.93997932G>A" "" "pathogenic" ""
"0000124436" "11" "70" "1" "94490540" "94490540" "dup" "0" "01695" "ABCA4_000522" "g.94490540dup" "" "{PMID:Huang 2013:23776498}" "" "c.4604dup" "" "Germline" "-" "" "0" "" "" "g.94024984dup" "" "likely pathogenic" ""
"0000124437" "21" "90" "1" "94526296" "94526296" "subst" "1.64555E-5" "01695" "ABCA4_000768" "g.94526296G>A" "1, 96614, 0, 0.00001035" "{PMID:Huang 2013:23776498}" "" "c.1957C.T" "" "Germline" "yes" "" "0" "" "" "g.94060740G>A" "" "pathogenic" ""
"0000124438" "0" "30" "1" "94487439" "94487440" "del" "0" "01695" "ABCA4_000500" "g.94487439_94487440del" "" "{PMID:Ritter 2013:23882696}" "" "c.4738_4739delTT" "" "Germline" "-" "" "0" "" "" "g.94021883_94021884del" "" "likely benign" ""
"0000124439" "0" "90" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "227, 121250, 3, 0.001872" "{PMID:Ritter 2013:23882696}" "" "c.6320G>A" "" "Germline" "?" "" "0" "" "" "g.94001068C>T" "" "pathogenic" ""
"0000124440" "0" "50" "1" "94512565" "94512565" "del" "0" "01695" "ABCA4_000692" "g.94512565del" "" "{PMID:Ritter 2013:23882696}" "" "c.2829delG" "" "Germline" "-" "" "0" "" "" "g.94047009del" "" "VUS" ""
"0000124441" "0" "50" "1" "94586533" "94586533" "subst" "4.06237E-6" "01695" "ABCA4_000254" "g.94586533T>G" "1, 121380, 0, 0.000008239" "{PMID:Ritter 2013:23882696}" "" "c.66+3A>C" "" "Germline" "-" "" "0" "" "" "g.94120977T>G" "" "VUS" ""
"0000124442" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Ritter 2013:23882696}" "" "c.2588G>C" "" "Germline" "-" "rs76157638" "0" "" "" "g.94051698C>G" "" "likely pathogenic" ""
"0000124443" "0" "90" "1" "94508379" "94508379" "subst" "0" "01695" "ABCA4_000640" "g.94508379G>A" "" "{PMID:Ritter 2013:23882696}" "" "c.3266C>T" "" "Germline" "?" "" "0" "" "" "g.94042823G>A" "" "pathogenic" ""
"0000124444" "3" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Ritter 2013:23882696}" "" "c.5882G>A" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000124445" "0" "50" "1" "94528205" "94528205" "del" "0" "01695" "ABCA4_000271" "g.94528205del" "" "{PMID:Ritter 2013:23882696}" "" "c.1865delG" "" "Germline" "-" "" "0" "" "" "g.94062649del" "" "VUS" ""
"0000124446" "0" "70" "1" "94502888" "94502888" "subst" "0.00310941" "01695" "ABCA4_000603" "g.94502888A>G" "325, 120738, 4, 0.002692" "{PMID:Ritter 2013:23882696}" "" "c.3626T>C" "" "Germline" "-" "" "0" "" "" "g.94037332A>G" "" "likely pathogenic" ""
"0000124447" "0" "30" "1" "94487436" "94487436" "subst" "2.03047E-5" "01695" "ABCA4_000498" "g.94487436A>G" "3, 121364, 0, 0.00002472" "{PMID:Ritter 2013:23882696}" "" "c.4739T>C" "" "Germline" "?" "" "0" "" "" "g.94021880A>G" "" "likely benign" ""
"0000124448" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "15, 121412, 0, 0.0001235" "{PMID:Ritter 2013:23882696}" "" "c.1622T>C" "" "Germline" "-" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000124449" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Ritter 2013:23882696}" "" "c.5882G>A" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000124450" "0" "50" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "42, 120772, 0, 0.0003478" "{PMID:Ritter 2013:23882696}" "" "c.5714+5G>A" "" "Germline" "-" "" "0" "" "" "g.94010795C>T" "" "VUS" ""
"0000124451" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "15, 121412, 0, 0.0001235" "{PMID:Ritter 2013:23882696}" "" "c.1622T>C" "" "Germline" "-" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000124452" "0" "70" "1" "94512529" "94512529" "subst" "0" "01695" "ABCA4_000690" "g.94512529T>C" "" "{PMID:Ritter 2013:23882696}" "" "c.2864A>G" "" "Germline" "?" "" "0" "" "" "g.94046973T>C" "" "likely pathogenic" ""
"0000124453" "0" "90" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "15, 121412, 0, 0.0001235" "{PMID:Ritter 2013:23882696}" "" "c.1622T>C" "" "Germline" "-" "" "0" "" "" "g.94063250A>G" "" "pathogenic" ""
"0000124454" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Ritter 2013:23882696}" "" "c.2588G>C" "" "Germline" "?" "rs76157638" "0" "" "" "g.94051698C>G" "" "likely pathogenic" ""
"0000124455" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "15, 121412, 0, 0.0001235" "{PMID:Ritter 2013:23882696}" "" "c.1622T>C" "" "Germline" "-" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000124456" "0" "70" "1" "94512529" "94512529" "subst" "0" "01695" "ABCA4_000690" "g.94512529T>C" "" "{PMID:Ritter 2013:23882696}" "" "c.2864A>G" "" "Germline" "?" "" "0" "" "" "g.94046973T>C" "" "likely pathogenic" ""
"0000124457" "0" "90" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "15, 121412, 0, 0.0001235" "{PMID:Ritter 2013:23882696}" "" "c.1622T>C" "" "Germline" "-" "" "0" "" "" "g.94063250A>G" "" "pathogenic" ""
"0000124458" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "42, 120772, 0, 0.0003478" "{PMID:Ritter 2013:23882696}" "" "c.5714+5G>A" "" "Germline" "?" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic" ""
"0000124459" "0" "50" "1" "94528132" "94528132" "subst" "4.06835E-6" "01695" "ABCA4_000773" "g.94528132C>T" "1, 120972, 0, 0.000008266" "{PMID:Ritter 2013:23882696}" "" "c.1937+1G>A" "" "Germline" "-" "" "0" "" "" "g.94062576C>T" "" "VUS" ""
"0000124460" "0" "50" "1" "94577105" "94577105" "subst" "0" "01695" "ABCA4_000235" "g.94577105G>A" "" "{PMID:Gemenetzi 2013:23949494}" "" "191C>T" "" "Germline" "-" "" "0" "" "" "g.94111549G>A" "" "VUS" ""
"0000124461" "0" "70" "1" "94528265" "94528265" "subst" "2.44212E-5" "01695" "ABCA4_000284" "g.94528265C>T" "2, 119074, 0, 0.0000168" "{PMID:Gemenetzi 2013:23949494}" "" "1805G>A" "" "Germline" "-" "" "0" "" "" "g.94062709C>T" "" "likely pathogenic" ""
"0000124462" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "26, 121404, 0, 0.0002142" "{PMID:Gemenetzi 2013:23949494}" "" "6079C>T" "" "Germline" "?" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic" ""
"0000124463" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Gemenetzi 2013:23949494}" "" "5882G>A" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "pathogenic" ""
"0000124464" "0" "70" "1" "94463437" "94463437" "dup" "0" "01695" "ABCA4_000797" "g.94463437dup" "" "{PMID:Gemenetzi 2013:23949494}" "" "6709insA" "" "Germline" "?" "" "0" "" "" "g.93997881dup" "" "likely pathogenic" ""
"0000124465" "0" "50" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "12, 60116, 0, 0.0001996" "{PMID:Gemenetzi 2013:23949494}" "" "4469G>A" "" "Germline" "-" "" "0" "" "" "g.94029515C>T" "" "VUS" ""
"0000124466" "0" "50" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Gemenetzi 2013:23949494}" "" "2588G>C" "" "Germline" "-" "rs76157638" "0" "" "" "g.94051698C>G" "" "VUS" ""
"0000124467" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Gemenetzi 2013:23949494}" "" "5461-10T>C" "" "Germline" "?" "" "0" "" "" "g.94011395A>G" "" "pathogenic" ""
"0000124468" "0" "70" "1" "94486794" "94486794" "subst" "0" "01695" "ABCA4_000478" "g.94486794A>G" "" "{PMID:Gemenetzi 2013:23949494}" "" "5018+2T>C" "" "Germline" "-" "" "0" "" "" "g.94021238A>G" "" "likely pathogenic" ""
"0000124469" "0" "90" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "26, 121404, 0, 0.0002142" "{PMID:Gemenetzi 2013:23949494}" "" "6079C>T" "" "Germline" "?" "" "0" "" "" "g.94005509G>A" "" "pathogenic" ""
"0000124470" "0" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "173, 121304, 0, 0.001426" "{PMID:Gemenetzi 2013:23949494}" "" "3113C>T" "" "Germline" "-" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic" ""
"0000124471" "0" "30" "1" "94496589" "94496589" "subst" "0" "01695" "ABCA4_000568" "g.94496589G>A" "" "{PMID:Gemenetzi 2013:23949494}" "" "4216C>T" "" "Germline" "?" "" "0" "" "" "g.94031033G>A" "" "likely benign" ""
"0000124472" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Fujinami 2013:23953153}" "" "c.2588G>C" "" "Germline" "-" "rs76157638" "0" "" "" "g.94051698C>G" "" "likely pathogenic" ""
"0000124473" "0" "90" "1" "94490550" "94490550" "subst" "0.000105588" "01695" "ABCA4_000523" "g.94490550C>T" "11, 121406, 0, 0.00009061" "{PMID:Fujinami 2013:23953153}" "" "c.4594G>A" "" "Germline" "?" "" "0" "" "" "g.94024994C>T" "" "pathogenic" ""
"0000124474" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Fujinami 2013:23953153}" "" "c.1622T>C, c.3113C>T" "" "Germline" "-" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000124475" "1" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Fujinami 2013:23953153}" "" "c.1622T>C, c.3113C>T" "" "Germline" "-" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic" ""
"0000124476" "0" "70" "1" "94471055" "94471055" "subst" "0.00035346" "01695" "ABCA4_000029" "g.94471055C>T" "47, 121404, 1, 0.0003871" "{PMID:Fujinami 2013:23953153}" "" "c.6089G>A" "" "Germline" "?" "" "0" "" "" "g.94005499C>T" "" "likely pathogenic" ""
"0000124477" "0" "30" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "13, 121216, 0, 0.0001072" "{PMID:Fujinami 2013:23953153}" "" "c.768G>T" "" "Germline" "-" "" "0" "" "" "g.94098794C>A" "" "likely benign" ""
"0000124478" "0" "50" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "227, 121250, 3, 0.001872" "{PMID:Fujinami 2013:23953153}" "" "c.6320G>A" "" "Germline" "?" "" "0" "" "" "g.94001068C>T" "" "VUS" ""
"0000124479" "0" "70" "1" "94528667" "94528667" "subst" "0" "01695" "ABCA4_000290" "g.94528667C>A" "" "{PMID:Fujinami 2013:23953153}" "" "c.1760+1G>T" "" "Germline" "-" "" "0" "" "" "g.94063111C>A" "" "likely pathogenic" ""
"0000124480" "0" "90" "1" "94490550" "94490550" "subst" "0" "01695" "ABCA4_000524" "g.94490550C>A" "" "{PMID:Fujinami 2013:23953153}" "" "c.4594G>T" "" "Germline" "?" "" "0" "" "" "g.94024994C>A" "" "pathogenic" ""
"0000124481" "0" "90" "1" "94528265" "94528265" "subst" "2.44212E-5" "01695" "ABCA4_000284" "g.94528265C>T" "2, 119074, 0, 0.0000168" "{PMID:Fujinami 2013:23953153}" "" "c.1805G>A" "" "Germline" "-" "" "0" "" "" "g.94062709C>T" "" "pathogenic" ""
"0000124482" "0" "70" "1" "94497564" "94497564" "subst" "1.64383E-5" "01695" "ABCA4_000091" "g.94497564G>A" "4, 118564, 0, 0.00003374" "{PMID:Fujinami 2013:23953153}" "" "c.3898C>T" "" "Germline" "?" "" "0" "" "" "g.94032008G>A" "" "likely pathogenic" ""
"0000124483" "0" "70" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Fujinami 2013:23953153}" "" "c.5461-10T>C" "" "Germline" "-" "" "0" "" "" "g.94011395A>G" "" "likely pathogenic" ""
"0000124484" "0" "50" "1" "94471055" "94471055" "subst" "0.00035346" "01695" "ABCA4_000029" "g.94471055C>T" "47, 121404, 1, 0.0003871" "{PMID:Fujinami 2013:23953153}" "" "c.6089G>A" "" "Germline" "?" "" "0" "" "" "g.94005499C>T" "" "VUS" ""
"0000124485" "0" "90" "1" "94471055" "94471055" "subst" "0.00035346" "01695" "ABCA4_000029" "g.94471055C>T" "47, 121404, 1, 0.0003871" "{PMID:Fujinami 2013:23953153}" "" "c.6089G>A" "" "Germline" "-" "" "0" "" "" "g.94005499C>T" "" "pathogenic" ""
"0000124486" "0" "70" "1" "94471026" "94471026" "subst" "1.21925E-5" "01695" "ABCA4_000791" "g.94471026G>A" "2, 121394, 0, 0.00001648" "{PMID:Fujinami 2013:23953153}" "" "c.6118C>T" "" "Germline" "?" "" "0" "" "" "g.94005470G>A" "" "likely pathogenic" ""
"0000124487" "0" "70" "1" "94578618" "94578618" "subst" "0.000166918" "01695" "ABCA4_000252" "g.94578618C>T" "23, 120444, 0, 0.000191" "{PMID:Fujinami 2013:23953153}" "" "c.71G>A" "" "Germline" "-" "" "0" "" "" "g.94113062C>T" "" "likely pathogenic" ""
"0000124488" "0" "70" "1" "94490567" "94490567" "subst" "5.68528E-5" "01695" "ABCA4_000026" "g.94490567G>A" "4, 121406, 0, 0.00003295" "{PMID:Fujinami 2013:23953153}" "" "c.4577C>T" "" "Germline" "?" "" "0" "" "" "g.94025011G>A" "" "likely pathogenic" ""
"0000124489" "0" "90" "1" "94564460" "94564460" "subst" "8.1355E-6" "01695" "ABCA4_000056" "g.94564460G>A" "" "{PMID:Fujinami 2013:23953153}" "" "c.658C>T" "" "Germline" "-" "" "0" "" "" "g.94098904G>A" "" "pathogenic" ""
"0000124490" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Fujinami 2013:23953153}" "" "c.2588G>C" "" "Germline" "?" "rs76157638" "0" "" "" "g.94051698C>G" "" "likely pathogenic" ""
"0000124491" "0" "30" "1" "94526296" "94526296" "subst" "1.64555E-5" "01695" "ABCA4_000768" "g.94526296G>A" "1, 96614, 0, 0.00001035" "{PMID:Fujinami 2013:23953153}" "" "c.1957C>T" "" "Germline" "-" "" "0" "" "" "g.94060740G>A" "" "likely benign" ""
"0000124492" "0" "70" "1" "94476377" "94476377" "subst" "0.00160473" "01695" "ABCA4_000411" "g.94476377C>T" "216, 121058, 1, 0.001784" "{PMID:Fujinami 2013:23953153}" "" "c.5693G>A" "On its own not significantely found more often in published STGD compared to ExAC (p-value 0.39). However, together with other non-significant variants published related to STGD, they are significantly more often in STGD patients (p-value <0.01)." "Germline" "?" "" "0" "" "" "g.94010821C>T" "" "likely pathogenic" ""
"0000124493" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Fujinami 2013:23953153}" "" "c.2588G>C" "" "Germline" "-" "rs76157638" "0" "" "" "g.94051698C>G" "" "likely pathogenic" ""
"0000124494" "0" "90" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "24, 119274, 0, 0.0002012" "{PMID:Fujinami 2013:23953153}" "" "c.4139C>T" "" "Germline" "?" "" "0" "" "" "g.94031110G>A" "" "pathogenic" ""
"0000124495" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "24, 119274, 0, 0.0002012" "{PMID:Fujinami 2013:23953153}" "" "c.4139C>T" "" "Germline" "-" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic" ""
"0000124496" "0" "70" "1" "94490550" "94490550" "subst" "0.000105588" "01695" "ABCA4_000523" "g.94490550C>T" "11, 121406, 0, 0.00009061" "{PMID:Fujinami 2013:23953153}" "" "c.4594G>T" "" "Germline" "?" "" "0" "" "" "g.94024994C>T" "" "likely pathogenic" ""
"0000124497" "0" "70" "1" "94496583" "94496583" "subst" "2.03092E-5" "01695" "ABCA4_000190" "g.94496583A>G" "1, 120898, 0, 0.000008271" "{PMID:Fujinami 2013:23953153}" "" "c.4222T>C" "" "Germline" "-" "" "0" "" "" "g.94031027A>G" "" "likely pathogenic" ""
"0000124498" "0" "70" "1" "94486896" "94486896" "subst" "3.65562E-5" "01695" "ABCA4_000085" "g.94486896G>A" "1, 121394, 0, 0.000008238" "{PMID:Fujinami 2013:23953153}" "" "c.4918C>T" "" "Germline" "?" "" "0" "" "" "g.94021340G>A" "" "likely pathogenic" ""
"0000124499" "0" "70" "1" "94496583" "94496583" "subst" "2.03092E-5" "01695" "ABCA4_000190" "g.94496583A>G" "1, 120898, 0, 0.000008271" "{PMID:Fujinami 2013:23953153}" "" "c.4222T>C" "" "Germline" "-" "" "0" "" "" "g.94031027A>G" "" "likely pathogenic" ""
"0000124500" "0" "70" "1" "94486896" "94486896" "subst" "3.65562E-5" "01695" "ABCA4_000085" "g.94486896G>A" "1, 121394, 0, 0.000008238" "{PMID:Fujinami 2013:23953153}" "" "c.4918C>T" "" "Germline" "?" "" "0" "" "" "g.94021340G>A" "" "likely pathogenic" ""
"0000124501" "0" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "12, 60116, 0, 0.0001996" "{PMID:Fujinami 2013:23953153}" "" "c.4469G>A" "" "Germline" "-" "" "0" "" "" "g.94029515C>T" "" "likely pathogenic" ""
"0000124502" "0" "70" "1" "94471055" "94471055" "subst" "0.00035346" "01695" "ABCA4_000029" "g.94471055C>T" "47, 121404, 1, 0.0003871" "{PMID:Fujinami 2013:23953153}" "" "c.6089G>A" "" "Germline" "?" "" "0" "" "" "g.94005499C>T" "" "likely pathogenic" ""
"0000124503" "3" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "26, 121404, 0, 0.0002142" "{PMID:Fujinami 2013:23953153}" "" "c.6079C>T" "" "Germline" "?" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic" ""
"0000124504" "0" "50" "1" "94486858" "94486858" "subst" "0" "01695" "ABCA4_000482" "g.94486858A>C" "" "{PMID:Fujinami 2013:23953153}" "" "c.4956T>G" "" "Germline" "-" "" "0" "" "" "g.94021302A>C" "" "VUS" ""
"0000124505" "0" "50" "1" "94486794" "94486794" "subst" "0" "01695" "ABCA4_000478" "g.94486794A>G" "" "{PMID:Fujinami 2013:23953153}" "" "c.5018+2T>C" "" "Germline" "-" "" "0" "" "" "g.94021238A>G" "" "VUS" ""
"0000124506" "0" "50" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Fujinami 2013:23953153}" "" "c.5461-10T>C" "" "Germline" "-" "" "0" "" "" "g.94011395A>G" "" "VUS" ""
"0000124507" "0" "50" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Fujinami 2013:23953153}" "" "c.5461-10T>C" "" "Germline" "-" "" "0" "" "" "g.94011395A>G" "" "VUS" ""
"0000124508" "0" "90" "1" "94528265" "94528265" "subst" "2.44212E-5" "01695" "ABCA4_000284" "g.94528265C>T" "2, 119074, 0, 0.0000168" "{PMID:Fujinami 2013:23953153}" "" "c.1805G>A" "" "Germline" "-" "" "0" "" "" "g.94062709C>T" "" "pathogenic" ""
"0000124509" "0" "50" "1" "94526296" "94526296" "subst" "1.64555E-5" "01695" "ABCA4_000768" "g.94526296G>A" "1, 96614, 0, 0.00001035" "{PMID:Fujinami 2013:23953153}" "" "c.1957C>T" "" "Germline" "-" "" "0" "" "" "g.94060740G>A" "" "VUS" ""
"0000124510" "0" "50" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Fujinami 2013:23953153}" "" "c.2588G>C" "" "Germline" "-" "rs76157638" "0" "" "" "g.94051698C>G" "" "VUS" ""
"0000124511" "0" "50" "1" "94505604" "94505604" "subst" "0.00645586" "01695" "ABCA4_000092" "g.94505604A>C" "879, 64452, 44, 0.01364" "{PMID:Fujinami 2013:23953153}" "" "c.3602T>G" "" "Germline" "-" "" "0" "" "" "g.94040048A>C" "" "VUS" ""
"0000124512" "0" "50" "1" "94505604" "94505604" "subst" "0.00645586" "01695" "ABCA4_000092" "g.94505604A>C" "879, 64452, 44, 0.01364" "{PMID:Fujinami 2013:23953153}" "" "c.3602T>G" "" "Germline" "-" "" "0" "" "" "g.94040048A>C" "" "VUS" ""
"0000124513" "0" "50" "1" "94496017" "94496017" "subst" "4.06075E-6" "01695" "ABCA4_000130" "g.94496017A>G" "" "{PMID:Fujinami 2013:23953153}" "" "c.4319T>C" "" "Germline" "-" "" "0" "" "" "g.94030461A>G" "" "VUS" ""
"0000124514" "0" "50" "1" "94487490" "94487490" "subst" "0.00122268" "01695" "ABCA4_000506" "g.94487490A>G" "158, 121114, 0, 0.001305" "{PMID:Fujinami 2013:23953153}" "" "c.4685T>C" "On its own not significantely found more often in published STGD compared to ExAC (p-value 0.92). However, together with other non-significant variants published related to STGD, they are significantly more often in STGD patients (p-value <0.01)." "Germline" "-" "" "0" "" "" "g.94021934A>G" "" "VUS" ""
"0000124515" "0" "50" "1" "94486888" "94486888" "subst" "3.65548E-5" "01695" "ABCA4_000137" "g.94486888G>C" "4, 121404, 0, 0.00003295" "{PMID:Fujinami 2013:23953153}" "" "c.4926C>G" "" "Germline" "-" "" "0" "" "" "g.94021332G>C" "" "VUS" ""
"0000124516" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Fujinami 2013:23953153}" "" "c.5882G>A" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000124517" "0" "50" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "26, 121404, 0, 0.0002142" "{PMID:Fujinami 2013:23953153}" "" "c.6079C>T" "" "Germline" "-" "" "0" "" "" "g.94005509G>A" "" "VUS" ""
"0000124518" "0" "50" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "26, 121404, 0, 0.0002142" "{PMID:Fujinami 2013:23953153}" "" "c.6079C>T" "" "Germline" "-" "" "0" "" "" "g.94005509G>A" "" "VUS" ""
"0000124519" "0" "70" "1" "94577135" "94577135" "subst" "2.43718E-5" "01695" "ABCA4_000240" "g.94577135C>T" "2, 121210, 0, 0.0000165" "{PMID:Fujinami 2013:23982839}" "" "c.161G>A" "" "Germline" "-" "" "0" "" "" "g.94111579C>T" "" "likely pathogenic" ""
"0000124520" "0" "90" "1" "94522242" "94522242" "subst" "4.06636E-6" "01695" "ABCA4_000737" "g.94522242C>A" "" "{PMID:Fujinami 2013:23982839}" "" "c.2297G>T" "" "Germline" "?" "" "0" "" "" "g.94056686C>A" "" "pathogenic" ""
"0000124521" "0" "70" "1" "94577073" "94577073" "subst" "0" "01695" "ABCA4_000231" "g.94577073A>C" "" "{PMID:Fujinami 2013:23982839}" "" "c.223T>G" "" "Germline" "-" "" "0" "" "" "g.94111517A>C" "" "likely pathogenic" ""
"0000124522" "0" "70" "1" "94485246" "94485246" "subst" "0" "01695" "ABCA4_000474" "g.94485246G>C" "" "{PMID:Fujinami 2013:23982839}" "" "c.5088C>G" "" "Germline" "?" "" "0" "" "" "g.94019690G>C" "" "likely pathogenic" ""
"0000124523" "0" "90" "1" "94564378" "94564378" "subst" "0" "01695" "ABCA4_000369" "g.94564378T>G" "" "{PMID:Fujinami 2013:23982839}" "" "c.740A>C" "" "Germline" "-" "" "0" "" "" "g.94098822T>G" "" "pathogenic" ""
"0000124524" "0" "70" "1" "94522194" "94522194" "subst" "0" "01695" "ABCA4_000733" "g.94522194C>T" "" "{PMID:Fujinami 2013:23982839}" "" "c.2345G>A" "" "Germline" "?" "" "0" "" "" "g.94056638C>T" "" "likely pathogenic" ""
"0000124525" "0" "50" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "13, 121216, 0, 0.0001072" "{PMID:Fujinami 2013:23982839}" "" "c.768G>T" "" "Germline" "-" "" "0" "" "" "g.94098794C>A" "" "VUS" ""
"0000124526" "0" "90" "1" "94544895" "94544895" "subst" "1.62455E-5" "01695" "ABCA4_000329" "g.94544895G>A" "3, 121410, 0, 0.00002471" "{PMID:Fujinami 2013:23982839}" "" "c.1222C>T" "" "Germline" "-" "" "0" "" "" "g.94079339G>A" "" "pathogenic" ""
"0000124527" "0" "90" "1" "94520686" "94520686" "subst" "0" "01695" "ABCA4_000710" "g.94520686G>T" "" "{PMID:Fujinami 2013:23982839}" "" "c.2568C>A" "" "Germline" "?" "" "0" "" "" "g.94055130G>T" "" "pathogenic" ""
"0000124528" "0" "50" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "6, 119038, 0, 0.0000504" "{PMID:Fujinami 2013:23982839}" "" "c.1804C>T" "" "Germline" "-" "" "0" "" "" "g.94062710G>A" "" "VUS" ""
"0000124529" "0" "70" "1" "94546283" "94546283" "subst" "8.18311E-5" "01695" "ABCA4_000356" "g.94546283A>G" "18, 120572, 0, 0.0001493" "{PMID:Fujinami 2013:23982839}" "" "c.859-9T>C" "" "Germline" "?" "" "0" "" "" "g.94080727A>G" "" "likely pathogenic" ""
"0000124530" "0" "70" "1" "94528265" "94528265" "subst" "2.44212E-5" "01695" "ABCA4_000284" "g.94528265C>T" "2, 119074, 0, 0.0000168" "{PMID:Fujinami 2013:23982839}" "" "c.1805G>A" "" "Germline" "-" "" "0" "" "" "g.94062709C>T" "" "likely pathogenic" ""
"0000124531" "0" "70" "1" "94485221" "94485221" "subst" "0" "01695" "ABCA4_000471" "g.94485221G>A" "4, 103872, 0, 0.00003851" "{PMID:Fujinami 2013:23982839}" "" "c.5113C>T" "" "Germline" "?" "" "0" "" "" "g.94019665G>A" "" "likely pathogenic" ""
"0000124532" "0" "50" "1" "94528148" "94528148" "subst" "0" "01695" "ABCA4_000777" "g.94528148C>G" "" "{PMID:Fujinami 2013:23982839}" "" "c.1922G>C" "" "Germline" "-" "" "0" "" "" "g.94062592C>G" "" "VUS" ""
"0000124533" "0" "50" "1" "94526296" "94526296" "subst" "1.64555E-5" "01695" "ABCA4_000768" "g.94526296G>A" "1, 96614, 0, 0.00001035" "{PMID:Fujinami 2013:23982839}" "" "c.1957C>T" "" "Germline" "-" "" "0" "" "" "g.94060740G>A" "" "VUS" ""
"0000124534" "0" "50" "1" "94526296" "94526296" "subst" "1.64555E-5" "01695" "ABCA4_000768" "g.94526296G>A" "1, 96614, 0, 0.00001035" "{PMID:Fujinami 2013:23982839}" "" "c.1957C>T" "" "Germline" "-" "" "0" "" "" "g.94060740G>A" "" "VUS" ""
"0000124535" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Fujinami 2013:23982839}" "" "c.2588G>C" "" "Germline" "-" "rs76157638" "0" "" "" "g.94051698C>G" "" "pathogenic" ""
"0000124536" "0" "90" "1" "94564463" "94564463" "subst" "0" "01695" "ABCA4_000381" "g.94564463T>A" "" "{PMID:Fujinami 2013:23982839}" "" "c.655A>T" "" "Germline" "?" "" "0" "" "" "g.94098907T>A" "" "pathogenic" ""
"0000124537" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Fujinami 2013:23982839}" "" "c.2588G>C" "" "Germline" "-" "rs76157638" "0" "" "" "g.94051698C>G" "" "pathogenic" ""
"0000124538" "0" "90" "1" "94528164" "94528164" "subst" "2.03336E-5" "01695" "ABCA4_000267" "g.94528164G>A" "" "{PMID:Fujinami 2013:23982839}" "" "c.1906C>T" "" "Germline" "?" "" "0" "" "" "g.94062608G>A" "" "pathogenic" ""
"0000124539" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Fujinami 2013:23982839}" "" "c.2588G>C" "" "Germline" "-" "rs76157638" "0" "" "" "g.94051698C>G" "" "pathogenic" ""
"0000124540" "0" "90" "1" "94528164" "94528164" "subst" "2.03336E-5" "01695" "ABCA4_000267" "g.94528164G>A" "" "{PMID:Fujinami 2013:23982839}" "" "c.1906C>T" "" "Germline" "?" "" "0" "" "" "g.94062608G>A" "" "pathogenic" ""
"0000124541" "0" "50" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Fujinami 2013:23982839}" "" "c.2588G>C" "" "Germline" "-" "rs76157638" "0" "" "" "g.94051698C>G" "" "VUS" ""
"0000124542" "0" "50" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Fujinami 2013:23982839}" "" "c.2588G>C" "" "Germline" "-" "rs76157638" "0" "" "" "g.94051698C>G" "" "VUS" ""
"0000124543" "0" "70" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "21, 121302, 0, 0.0001731" "{PMID:Fujinami 2013:23982839}" "" "c.2894A>G" "" "Germline" "-" "" "0" "" "" "g.94046943T>C" "" "likely pathogenic" ""
"0000124544" "0" "70" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "14, 121282, 0, 0.0001154" "{PMID:Fujinami 2013:23982839}" "" "c.3322C>T" "" "Germline" "?" "" "0" "" "" "g.94042767G>A" "" "likely pathogenic" ""
"0000124545" "0" "50" "1" "94509018" "94509018" "subst" "8.12869E-6" "01695" "ABCA4_000659" "g.94509018C>T" "1, 121086, 0, 0.000008259" "{PMID:Fujinami 2013:23982839}" "" "c.3064G>A" "" "Germline" "-" "" "0" "" "" "g.94043462C>T" "" "VUS" ""
"0000124546" "0" "70" "1" "94463399" "94463413" "del" "0" "01695" "ABCA4_000851" "g.94463399_94463413del" "" "{PMID:Fujinami 2013:23982839}" "" "c.6729+4_+18delAGTTGGCCCTGGGGC" "" "Germline" "?" "" "0" "" "" "g.93997843_93997857del" "" "likely pathogenic" ""
"0000124547" "0" "50" "1" "94509018" "94509018" "subst" "8.12869E-6" "01695" "ABCA4_000659" "g.94509018C>T" "1, 121086, 0, 0.000008259" "{PMID:Fujinami 2013:23982839}" "" "c.3064G>A" "" "Germline" "-" "" "0" "" "" "g.94043462C>T" "" "VUS" ""
"0000124548" "0" "70" "1" "94508436" "94508437" "ins" "0" "01695" "ABCA4_000645" "g.94508436_94508437insAC" "" "{PMID:Fujinami 2013:23982839}" "" "c.3208_3209insGT" "" "Germline" "-" "" "0" "" "" "g.94042880_94042881insAC" "" "likely pathogenic" ""
"0000124549" "0" "90" "1" "94510277" "94510277" "subst" "8.12123E-6" "01695" "ABCA4_000671" "g.94510277G>A" "1, 121408, 0, 0.000008237" "{PMID:Fujinami 2013:23982839}" "" "c.2942C>T" "" "Germline" "?" "" "0" "" "" "g.94044721G>A" "" "pathogenic" ""
"0000124550" "0" "70" "1" "94508436" "94508437" "ins" "0" "01695" "ABCA4_000645" "g.94508436_94508437insAC" "" "{PMID:Fujinami 2013:23982839}" "" "c.3208_3209insGT" "" "Germline" "-" "" "0" "" "" "g.94042880_94042881insAC" "" "likely pathogenic" ""
"0000124551" "0" "90" "1" "94543281" "94543281" "subst" "4.0661E-6" "01695" "ABCA4_000309" "g.94543281C>A" "1, 121136, 0, 0.000008255" "{PMID:Fujinami 2013:23982839}" "" "c.1519G>T" "" "Germline" "?" "" "0" "" "" "g.94077725C>A" "" "pathogenic" ""
"0000124552" "0" "90" "1" "94508436" "94508437" "ins" "0" "01695" "ABCA4_000645" "g.94508436_94508437insAC" "" "{PMID:Fujinami 2013:23982839}" "" "c.3208_3209insGT" "" "Germline" "-" "" "0" "" "" "g.94042880_94042881insAC" "" "pathogenic" ""
"0000124553" "0" "90" "1" "94490510" "94490510" "subst" "0" "01695" "ABCA4_000518" "g.94490510C>T" "" "{PMID:Fujinami 2013:23982839}" "" "c.4634G>A" "" "Germline" "?" "" "0" "" "" "g.94024954C>T" "" "pathogenic" ""
"0000124554" "0" "50" "1" "94508436" "94508437" "ins" "0" "01695" "ABCA4_000645" "g.94508436_94508437insAC" "" "{PMID:Fujinami 2013:23982839}" "" "c.3208_3209insGT" "" "Germline" "-" "" "0" "" "" "g.94042880_94042881insAC" "" "VUS" ""
"0000124555" "0" "70" "1" "94508353" "94508353" "subst" "2.8431E-5" "01695" "ABCA4_000141" "g.94508353G>A" "4, 121358, 0, 0.00003296" "{PMID:Fujinami 2013:23982839}" "" "c.3292C>T" "" "Germline" "-" "" "0" "" "" "g.94042797G>A" "" "likely pathogenic" ""
"0000124556" "0" "70" "1" "94508346" "94508346" "subst" "0" "01695" "ABCA4_000632" "g.94508346A>T" "" "{PMID:Fujinami 2013:23982839}" "" "c.3299T>A" "" "Germline" "?" "" "0" "" "" "g.94042790A>T" "" "likely pathogenic" ""
"0000124557" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "14, 121282, 0, 0.0001154" "{PMID:Fujinami 2013:23982839}" "" "c.3322C>T" "" "Germline" "-" "" "0" "" "" "g.94042767G>A" "" "pathogenic" ""
"0000124558" "0" "70" "1" "94486836" "94486836" "del" "0" "01695" "ABCA4_000481" "g.94486836del" "" "{PMID:Fujinami 2013:23982839}" "" "c.4978delC" "" "Germline" "?" "" "0" "" "" "g.94021280del" "" "likely pathogenic" ""
"0000124559" "0" "90" "1" "94506901" "94506901" "subst" "4.06138E-6" "01695" "ABCA4_000622" "g.94506901C>T" "" "{PMID:Fujinami 2013:23982839}" "" "c.3386G>A" "" "Germline" "-" "" "0" "" "" "g.94041345C>T" "" "pathogenic" ""
"0000124560" "0" "70" "1" "94508436" "94508437" "ins" "0" "01695" "ABCA4_000645" "g.94508436_94508437insAC" "" "{PMID:Fujinami 2013:23982839}" "" "c.3208_3209insGT" "" "Germline" "?" "" "0" "" "" "g.94042880_94042881insAC" "" "likely pathogenic" ""
"0000124561" "0" "90" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "24, 119274, 0, 0.0002012" "{PMID:Fujinami 2013:23982839}" "" "c.4139C>T" "" "Germline" "-" "" "0" "" "" "g.94031110G>A" "" "pathogenic" ""
"0000124562" "0" "70" "1" "94508455" "94508455" "subst" "8.12434E-6" "01695" "ABCA4_000649" "g.94508455C>A" "" "{PMID:Fujinami 2013:23982839}" "" "c.3191-1G>T" "" "Germline" "?" "" "0" "" "" "g.94042899C>A" "" "likely pathogenic" ""
"0000124563" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "24, 119274, 0, 0.0002012" "{PMID:Fujinami 2013:23982839}" "" "c.4139C>T" "" "Germline" "-" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic" ""
"0000124564" "0" "70" "1" "94506889" "94506889" "subst" "4.06091E-6" "01695" "ABCA4_000619" "g.94506889A>G" "" "{PMID:Fujinami 2013:23982839}" "" "c.3398T>C" "" "Germline" "?" "" "0" "" "" "g.94041333A>G" "" "likely pathogenic" ""
"0000124565" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "24, 119274, 0, 0.0002012" "{PMID:Fujinami 2013:23982839}" "" "c.4139C>T" "" "Germline" "-" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic" ""
"0000124566" "0" "70" "1" "94497392" "94497392" "subst" "0" "01695" "ABCA4_000576" "g.94497392G>T" "" "{PMID:Fujinami 2013:23982839}" "" "c.4070C>A" "" "Germline" "?" "" "0" "" "" "g.94031836G>T" "" "likely pathogenic" ""
"0000124567" "0" "90" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "24, 119274, 0, 0.0002012" "{PMID:Fujinami 2013:23982839}" "" "c.4139C>T" "" "Germline" "-" "" "0" "" "" "g.94031110G>A" "" "pathogenic" ""
"0000124568" "0" "70" "1" "94487402" "94487402" "subst" "0" "01695" "ABCA4_000496" "g.94487402C>G" "" "{PMID:Fujinami 2013:23982839}" "" "c.4773G>C" "" "Germline" "?" "" "0" "" "" "g.94021846C>G" "" "likely pathogenic" ""
"0000124569" "0" "50" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "24, 119274, 0, 0.0002012" "{PMID:Fujinami 2013:23982839}" "" "c.4139C>T" "" "Germline" "-" "" "0" "" "" "g.94031110G>A" "" "VUS" ""
"0000124570" "0" "50" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "24, 119274, 0, 0.0002012" "{PMID:Fujinami 2013:23982839}" "" "c.4139C>T" "" "Germline" "-" "" "0" "" "" "g.94031110G>A" "" "VUS" ""
"0000124571" "0" "50" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "24, 119274, 0, 0.0002012" "{PMID:Fujinami 2013:23982839}" "" "c.4139C>T" "" "Germline" "-" "" "0" "" "" "g.94031110G>A" "" "VUS" ""
"0000124572" "0" "50" "1" "94496571" "94496571" "subst" "4.06174E-6" "01695" "ABCA4_000111" "g.94496571G>A" "" "{PMID:Fujinami 2013:23982839}" "" "c.4234C>T" "" "Germline" "-" "" "0" "" "" "g.94031015G>A" "" "VUS" ""
"0000124573" "0" "50" "1" "94496017" "94496017" "subst" "4.06075E-6" "01695" "ABCA4_000130" "g.94496017A>G" "" "{PMID:Fujinami 2013:23982839}" "" "c.4319T>C" "" "Germline" "-" "" "0" "" "" "g.94030461A>G" "" "VUS" ""
"0000124574" "0" "90" "1" "94496008" "94496008" "subst" "2.03056E-5" "01695" "ABCA4_000148" "g.94496008C>T" "3, 121360, 0, 0.00002472" "{PMID:Fujinami 2013:23982839}" "" "c.4328G>A" "" "Germline" "-" "" "0" "" "" "g.94030452C>T" "" "pathogenic" ""
"0000124575" "0" "70" "1" "94577116" "94577116" "del" "0" "01695" "ABCA4_000236" "g.94577116del" "" "{PMID:Fujinami 2013:23982839}" "" "c.180delG" "" "Germline" "?" "" "0" "" "" "g.94111560del" "" "likely pathogenic" ""
"0000124576" "0" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "12, 60116, 0, 0.0001996" "{PMID:Fujinami 2013:23982839}" "" "c.4469G>A" "" "Germline" "-" "" "0" "" "" "g.94029515C>T" "" "likely pathogenic" ""
"0000124577" "0" "70" "1" "94528702" "94528702" "subst" "1.62468E-5" "01695" "ABCA4_000293" "g.94528702C>G" "1, 121412, 0, 0.000008236" "{PMID:Fujinami 2013:23982839}" "" "c.1726G>C" "" "Germline" "?" "" "0" "" "" "g.94063146C>G" "" "likely pathogenic" ""
"0000124578" "0" "50" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "12, 60116, 0, 0.0001996" "{PMID:Fujinami 2013:23982839}" "" "c.4469G>A" "" "Germline" "-" "" "0" "" "" "g.94029515C>T" "" "VUS" ""
"0000124579" "0" "70" "1" "94495009" "94495009" "dup" "0" "01695" "ABCA4_000087" "g.94495009dup" "" "{PMID:Fujinami 2013:23982839}" "" "c.4537_4538insC" "" "Germline" "-" "" "0" "" "" "g.94029453dup" "" "likely pathogenic" ""
"0000124580" "0" "90" "1" "94476824" "94476824" "subst" "8.12889E-6" "01695" "ABCA4_000428" "g.94476824G>A" "" "{PMID:Fujinami 2013:23982839}" "" "c.5578C>T" "" "Germline" "?" "" "0" "" "" "g.94011268G>A" "" "pathogenic" ""
"0000124581" "0" "50" "1" "94490567" "94490567" "subst" "5.68528E-5" "01695" "ABCA4_000026" "g.94490567G>A" "4, 121406, 0, 0.00003295" "{PMID:Fujinami 2013:23982839}" "" "c.4577C>T" "" "Germline" "-" "" "0" "" "" "g.94025011G>A" "" "VUS" ""
"0000124582" "0" "70" "1" "94486888" "94486888" "subst" "3.65548E-5" "01695" "ABCA4_000137" "g.94486888G>C" "4, 121404, 0, 0.00003295" "{PMID:Fujinami 2013:23982839}" "" "c.4926C>G" "" "Germline" "-" "" "0" "" "" "g.94021332G>C" "" "likely pathogenic" ""
"0000124583" "0" "70" "1" "94485279" "94485293" "del" "0" "01695" "ABCA4_000476" "g.94485279_94485293del" "" "{PMID:Fujinami 2013:23982839}" "" "c.5041_5055delGTGGTTGCCATCTGC" "" "Germline" "?" "" "0" "" "" "g.94019723_94019737del" "" "likely pathogenic" ""
"0000124584" "0" "50" "1" "94486858" "94486858" "subst" "0" "01695" "ABCA4_000482" "g.94486858A>C" "" "{PMID:Fujinami 2013:23982839}" "" "c.4956T>G" "" "Germline" "-" "" "0" "" "" "g.94021302A>C" "" "VUS" ""
"0000124585" "0" "50" "1" "94486794" "94486794" "subst" "0" "01695" "ABCA4_000478" "g.94486794A>G" "" "{PMID:Fujinami 2013:23982839}" "" "c.5018+2T>C" "" "Germline" "-" "" "0" "" "" "g.94021238A>G" "" "VUS" ""
"0000124586" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Fujinami 2013:23982839}" "" "c.5461-10T>C" "" "Germline" "-" "" "0" "" "" "g.94011395A>G" "" "pathogenic" ""
"0000124587" "0" "50" "1" "94466559" "94466559" "subst" "0" "01695" "ABCA4_000833" "g.94466559T>C" "" "{PMID:Fujinami 2013:23982839}" "" "c.6385A>G" "" "Germline" "?" "" "0" "" "" "g.94001003T>C" "" "VUS" ""
"0000124588" "0" "50" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Fujinami 2013:23982839}" "" "c.5461-10T>C" "" "Germline" "-" "" "0" "" "" "g.94011395A>G" "" "VUS" ""
"0000124589" "0" "50" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Fujinami 2013:23982839}" "" "c.5461-10T>C" "" "Germline" "-" "" "0" "" "" "g.94011395A>G" "" "VUS" ""
"0000124590" "0" "50" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Fujinami 2013:23982839}" "" "c.5461-10T>C" "" "Germline" "-" "" "0" "" "" "g.94011395A>G" "" "VUS" ""
"0000124591" "0" "50" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Fujinami 2013:23982839}" "" "c.5461-10T>C" "" "Germline" "-" "" "0" "" "" "g.94011395A>G" "" "VUS" ""
"0000124592" "0" "50" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Fujinami 2013:23982839}" "" "c.5461-10T>C" "" "Germline" "-" "" "0" "" "" "g.94011395A>G" "" "VUS" ""
"0000124593" "0" "50" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Fujinami 2013:23982839}" "" "c.5461-10T>C" "" "Germline" "-" "" "0" "" "" "g.94011395A>G" "" "VUS" ""
"0000124594" "0" "50" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Fujinami 2013:23982839}" "" "c.5461-10T>C" "" "Germline" "-" "" "0" "" "" "g.94011395A>G" "" "VUS" ""
"0000124595" "0" "50" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Fujinami 2013:23982839}" "" "c.5585-1G>A" "" "Germline" "-" "" "0" "" "" "g.94011395A>G" "" "VUS" ""
"0000124596" "0" "70" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Fujinami 2013:23982839}" "" "c.5714+5G>A" "" "Germline" "-" "" "0" "" "" "g.94011395A>G" "" "likely pathogenic" ""
"0000124597" "0" "50" "1" "94467487" "94467487" "subst" "0" "01695" "ABCA4_000783" "g.94467487G>C" "" "{PMID:Fujinami 2013:23982839}" "" "c.6209C>G" "" "Germline" "?" "" "0" "" "" "g.94001931G>C" "" "VUS" ""
"0000124598" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Fujinami 2013:23982839}" "" "c.5882G>A" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000124599" "0" "70" "1" "94514481" "94514481" "subst" "0" "01695" "ABCA4_000701" "g.94514481T>C" "" "{PMID:Fujinami 2013:23982839}" "" "c.2686A>G" "" "Germline" "?" "" "0" "" "" "g.94048925T>C" "" "likely pathogenic" ""
"0000124600" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Fujinami 2013:23982839}" "" "c.5882G>A" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "pathogenic" ""
"0000124601" "0" "70" "1" "94510168" "94510168" "subst" "0" "01695" "ABCA4_000662" "g.94510168C>G" "" "{PMID:Fujinami 2013:23982839}" "" "c.3050+1G>C" "" "Germline" "?" "" "0" "" "" "g.94044612C>G" "" "likely pathogenic" ""
"0000124602" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Fujinami 2013:23982839}" "" "c.5882G>A" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "pathogenic" ""
"0000124603" "0" "70" "1" "94506894" "94506895" "delins" "0" "01695" "ABCA4_000621" "g.94506894_94506895delinsC" "" "{PMID:Fujinami 2013:23982839}" "" "c.3392delC/3393C>G" "" "Germline" "?" "" "0" "" "" "g.94041338_94041339delinsC" "" "likely pathogenic" ""
"0000124604" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Fujinami 2013:23982839}" "" "c.5882G>A" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "pathogenic" ""
"0000124605" "0" "70" "1" "94494999" "94494999" "subst" "0" "01695" "ABCA4_000530" "g.94494999A>C" "" "{PMID:Fujinami 2013:23982839}" "" "c.4539+2T>G" "" "Germline" "?" "" "0" "" "" "g.94029443A>C" "" "likely pathogenic" ""
"0000124606" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Fujinami 2013:23982839}" "" "c.5882G>A" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000124607" "0" "70" "1" "94490592" "94490592" "subst" "0" "01695" "ABCA4_000527" "g.94490592T>G" "" "{PMID:Fujinami 2013:23982839}" "" "c.4552A>C" "" "Germline" "?" "" "0" "" "" "g.94025036T>G" "" "likely pathogenic" ""
"0000124608" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Fujinami 2013:23982839}" "" "c.5882G>A" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "pathogenic" ""
"0000124609" "0" "70" "1" "94473298" "94473298" "del" "0" "01695" "ABCA4_000396" "g.94473298del" "" "{PMID:Fujinami 2013:23982839}" "" "c.5899-2delA" "" "Germline" "?" "" "0" "" "" "g.94007742del" "" "likely pathogenic" ""
"0000124610" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Fujinami 2013:23982839}" "" "c.5882G>A" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000124611" "0" "90" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "26, 121404, 0, 0.0002142" "{PMID:Fujinami 2013:23982839}, {PMID:Zernant 2011:21911583}" "" "c.6079C>T" "" "Germline" "-" "" "0" "" "" "g.94005509G>A" "" "pathogenic" ""
"0000124612" "0" "70" "1" "94528164" "94528164" "subst" "2.03336E-5" "01695" "ABCA4_000267" "g.94528164G>A" "" "{PMID:Fujinami 2013:23982839}, {PMID:Zernant 2011:21911583}" "" "c.1906C>T" "" "Germline" "?" "" "0" "" "" "g.94062608G>A" "" "likely pathogenic" ""
"0000124613" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "26, 121404, 0, 0.0002142" "{PMID:Fujinami 2013:23982839}" "" "c.6079C>T" "" "Germline" "-" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic" ""
"0000124614" "0" "70" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "14, 121282, 0, 0.0001154" "{PMID:Fujinami 2013:23982839}" "" "c.3322C>T" "" "Germline" "?" "" "0" "" "" "g.94042767G>A" "" "likely pathogenic" ""
"0000124615" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "26, 121404, 0, 0.0002142" "{PMID:Fujinami 2013:23982839}" "" "c.6079C>T" "" "Germline" "-" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic" ""
"0000124616" "0" "70" "1" "94506917" "94506917" "subst" "0" "01695" "ABCA4_000625" "g.94506917C>A" "" "{PMID:Fujinami 2013:23982839}" "" "c.3370G>T" "" "Germline" "?" "" "0" "" "" "g.94041361C>A" "" "likely pathogenic" ""
"0000124617" "0" "50" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "26, 121404, 0, 0.0002142" "{PMID:Fujinami 2013:23982839}" "" "c.6079C>T" "" "Germline" "-" "" "0" "" "" "g.94005509G>A" "" "VUS" ""
"0000124618" "0" "70" "1" "94471055" "94471055" "subst" "0.00035346" "01695" "ABCA4_000029" "g.94471055C>T" "47, 121404, 1, 0.0003871" "{PMID:Fujinami 2013:23982839}" "" "c.6089G>A" "" "Germline" "-" "" "0" "" "" "g.94005499C>T" "" "likely pathogenic" ""
"0000124619" "0" "70" "1" "94496010" "94496010" "subst" "1.62434E-5" "01695" "ABCA4_000549" "g.94496010G>T" "3, 121366, 0, 0.00002472" "{PMID:Fujinami 2013:23982839}" "" "c.4326C>A" "" "Germline" "?" "" "0" "" "" "g.94030454G>T" "" "likely pathogenic" ""
"0000124620" "0" "50" "1" "94466426" "94466426" "subst" "1.62433E-5" "01695" "ABCA4_000124" "g.94466426G>A" "2, 121400, 0, 0.00001647" "{PMID:Fujinami 2013:23982839}" "" "c.6445C>T" "" "Germline" "-" "" "0" "" "" "g.94000870G>A" "" "VUS" ""
"0000124621" "0" "90" "1" "94463437" "94463437" "subst" "0" "01695" "ABCA4_000796" "g.94463437T>G" "" "{PMID:Fujinami 2013:23982839}" "" "c.6709A>C" "" "Germline" "-" "" "0" "" "" "g.93997881T>G" "" "pathogenic" ""
"0000124622" "0" "70" "1" "94473298" "94473299" "del" "0" "01695" "ABCA4_000397" "g.94473298_94473299del" "" "{PMID:Fujinami 2013:23982839}" "" "c.5899-3_5899-2delTA" "" "Germline" "?" "" "0" "" "" "g.94007742_94007743del" "" "likely pathogenic" ""
"0000124623" "0" "70" "1" "94510248" "94510248" "subst" "0.000544123" "01695" "ABCA4_000107" "g.94510248C>G" "87, 121410, 0, 0.0007166" "{PMID:Fujinami 2013:23982839}" "" "c.2971G>C" "" "Germline" "-" "" "0" "" "" "g.94044692C>G" "" "likely pathogenic" ""
"0000124624" "0" "70" "1" "94495002" "94495002" "subst" "0" "01695" "ABCA4_000533" "g.94495002T>C" "" "{PMID:Fujinami 2013:23982839}" "" "c.4538A>G" "" "Germline" "?" "" "0" "" "" "g.94029446T>C" "" "likely pathogenic" ""
"0000124625" "0" "70" "1" "94505604" "94505604" "subst" "0.00645586" "01695" "ABCA4_000092" "g.94505604A>C" "879, 64452, 44, 0.01364" "{PMID:Fujinami 2013:23982839}" "" "c.3602T>G" "" "Germline" "-" "" "0" "" "" "g.94040048A>C" "" "likely pathogenic" ""
"0000124626" "0" "30" "1" "94528679" "94528679" "subst" "2.84368E-5" "01695" "ABCA4_000292" "g.94528679C>G" "5, 121412, 0, 0.00004118" "{PMID:Fujinami 2013:23982839}" "" "c.1749G>C" "On its own not significantely found more often in published STGD compared to ExAC (p-value 0.29). However, together with other non-significant variants published related to STGD, they are significantly more often in STGD patients (p-value <0.01)." "Germline" "?" "" "0" "" "" "g.94063123C>G" "" "likely benign" ""
"0000124627" "0" "90" "1" "94505604" "94505604" "subst" "0.00645586" "01695" "ABCA4_000092" "g.94505604A>C" "879, 64452, 44, 0.01364" "{PMID:Fujinami 2013:23982839}" "" "c.3602T>G" "" "Germline" "-" "" "0" "" "" "g.94040048A>C" "" "pathogenic" ""
"0000124628" "0" "30" "1" "94526270" "94526270" "dup" "0" "01695" "ABCA4_000764" "g.94526270dup" "" "{PMID:Fujinami 2013:23982839}" "" "c.1982_1983insG" "" "Germline" "?" "" "0" "" "" "g.94060714dup" "" "likely benign" ""
"0000124629" "0" "70" "1" "94505604" "94505604" "subst" "0.00645586" "01695" "ABCA4_000092" "g.94505604A>C" "879, 64452, 44, 0.01364" "{PMID:Fujinami 2013:23982839}" "" "c.3602T>G" "" "Germline" "-" "" "0" "" "" "g.94040048A>C" "" "likely pathogenic" ""
"0000124630" "0" "30" "1" "94510247" "94510247" "subst" "0" "01695" "ABCA4_000668" "g.94510247C>A" "" "{PMID:Fujinami 2013:23982839}" "" "c.2972G>T" "" "Germline" "?" "" "0" "" "" "g.94044691C>A" "" "likely benign" ""
"0000124631" "0" "90" "1" "94487490" "94487490" "subst" "0.00122268" "01695" "ABCA4_000506" "g.94487490A>G" "158, 121114, 0, 0.001305" "{PMID:Fujinami 2013:23982839}" "" "c.4685T>C" "On its own not significantely found more often in published STGD compared to ExAC (p-value 0.92). However, together with other non-significant variants published related to STGD, they are significantly more often in STGD patients (p-value <0.01)." "Germline" "-" "" "0" "" "" "g.94021934A>G" "" "pathogenic" ""
"0000124632" "0" "30" "1" "94508356" "94508356" "subst" "0" "01695" "ABCA4_000635" "g.94508356T>A" "" "{PMID:Fujinami 2013:23982839}" "" "c.3289A>T" "" "Germline" "?" "" "0" "" "" "g.94042800T>A" "" "likely benign" ""
"0000124633" "0" "70" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "227, 121250, 3, 0.001872" "{PMID:Fujinami 2013:23982839}" "" "c.6320G>A" "" "Germline" "-" "" "0" "" "" "g.94001068C>T" "" "likely pathogenic" ""
"0000124634" "0" "30" "1" "94520744" "94520744" "subst" "0" "01695" "ABCA4_000719" "g.94520744A>G" "" "{PMID:Fujinami 2013:23982839}" "" "c.2510T>C" "" "Germline" "?" "" "0" "" "" "g.94055188A>G" "" "likely benign" ""
"0000124635" "0" "90" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "227, 121250, 3, 0.001872" "{PMID:Fujinami 2013:23982839}" "" "c.6320G>A" "" "Germline" "-" "" "0" "" "" "g.94001068C>T" "" "pathogenic" ""
"0000124636" "0" "30" "1" "94495983" "94495983" "subst" "8.12348E-6" "01695" "ABCA4_000547" "g.94495983C>T" "1, 121268, 0, 0.000008246" "{PMID:Fujinami 2013:23982839}" "" "c.4352+1G>A" "" "Germline" "?" "" "0" "" "" "g.94030427C>T" "" "likely benign" ""
"0000124637" "0" "50" "1" "94514466" "94514466" "subst" "0.00192081" "01695" "ABCA4_000008" "g.94514466T>C" "212, 121284, 0, 0.001748" "{PMID:Fujinami 2013:23982839}" "" "c.2701A>G" "" "Germline" "-" "" "0" "" "" "g.94048910T>C" "" "VUS" ""
"0000124638" "0" "50" "1" "94505604" "94505604" "subst" "0.00645586" "01695" "ABCA4_000092" "g.94505604A>C" "879, 64452, 44, 0.01364" "{PMID:Fujinami 2013:23982839}" "" "c.3602T>G" "" "Germline" "-" "" "0" "" "" "g.94040048A>C" "" "VUS" ""
"0000124639" "0" "50" "1" "94496053" "94496053" "subst" "0.00437371" "01695" "ABCA4_000556" "g.94496053G>A" "500, 121376, 12, 0.004119" "{PMID:Fujinami 2013:23982839}" "" "c.4283C>T" "" "Germline" "-" "" "0" "" "" "g.94030497G>A" "" "VUS" ""
"0000124640" "0" "50" "1" "94568675" "94568675" "subst" "0.00146249" "01695" "ABCA4_000210" "g.94568675T>C" "159, 120956, 0, 0.001315" "{PMID:Fujinami 2013:23982839}" "" "c.466A>G" "On its own not significantely found more often in published STGD compared to ExAC (p-value 0.50). However, together with other non-significant variants published related to STGD, they are significantly more often in STGD patients (p-value <0.01)." "Germline" "-" "" "0" "" "" "g.94103119T>C" "" "VUS" ""
"0000124641" "0" "50" "1" "94568675" "94568675" "subst" "0.00146249" "01695" "ABCA4_000210" "g.94568675T>C" "159, 120956, 0, 0.001315" "{PMID:Fujinami 2013:23982839}" "" "c.466A>G" "On its own not significantely found more often in published STGD compared to ExAC (p-value 0.50). However, together with other non-significant variants published related to STGD, they are significantly more often in STGD patients (p-value <0.01)." "Germline" "-" "" "0" "" "" "g.94103119T>C" "" "VUS" ""
"0000124642" "0" "50" "1" "94487460" "94487460" "subst" "0.000113716" "01695" "ABCA4_000505" "g.94487460G>A" "15, 121334, 0, 0.0001236" "{PMID:Fujinami 2013:23982839}" "" "c.4715C>T" "" "Germline" "-" "" "0" "" "" "g.94021904G>A" "" "VUS" ""
"0000124643" "0" "70" "1" "94568675" "94568675" "subst" "0.00146249" "01695" "ABCA4_000210" "g.94568675T>C" "159, 120956, 0, 0.001315" "{PMID:Fujinami 2013:23982839}" "" "c.466A>G, p.Ile156Valc.4363 C>T, p.Cys1455Arg" "On its own not significantely found more often in published STGD compared to ExAC (p-value 0.50). However, together with other non-significant variants published related to STGD, they are significantly more often in STGD patients (p-value <0.01)." "Germline" "-" "" "0" "" "" "g.94103119T>C" "" "likely pathogenic" ""
"0000124644" "0" "30" "1" "94476886" "94476886" "subst" "4.06227E-6" "01695" "ABCA4_000433" "g.94476886A>G" "" "{PMID:Fujinami 2013:23982839}" "" "c.5516T>C, p.Phe1839Ser" "" "Germline" "?" "" "0" "" "" "g.94011330A>G" "" "likely benign" ""
"0000124645" "0" "50" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "14, 121282, 0, 0.0001154" "{PMID:Fujinami 2013:23982839}" "" "c.3322C>T, p.Arg1108Cys" "" "Germline" "-" "" "0" "" "" "g.94042767G>A" "" "VUS" ""
"0000124646" "0" "50" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "24, 119274, 0, 0.0002012" "{PMID:Fujinami 2013:23982839}" "" "c.4139C>T, p.Pro1380Leu" "" "Germline" "-" "" "0" "" "" "g.94031110G>A" "" "VUS" ""
"0000124647" "0" "70" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Fujinami 2013:23982839}" "" "c.5461-10T>C, uncertain effect" "" "Germline" "-" "" "0" "" "" "g.94011395A>G" "" "likely pathogenic" ""
"0000124648" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Fujinami 2013:23982839}" "" "c.5882G>A, p.Gly1961Glu" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000124649" "0" "50" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "26, 121404, 0, 0.0002142" "{PMID:Fujinami 2013:23982839}" "" "c.6079C>T, p.Leu2027Phe" "" "Germline" "-" "" "0" "" "" "g.94005509G>A" "" "VUS" ""
"0000124650" "0" "70" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "14, 121282, 0, 0.0001154" "{PMID:Fujinami 2013:23982839}" "" "c.3322C>T, p.Arg1108Cys" "" "Germline" "-" "" "0" "" "" "g.94042767G>A" "" "likely pathogenic" ""
"0000124651" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "26, 121404, 0, 0.0002142" "{PMID:Fujinami 2013:23982839}" "" "c.6079C>T, p.Leu2027Phe" "" "Germline" "?" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic" ""
"0000124652" "0" "50" "1" "94486888" "94486888" "subst" "3.65548E-5" "01695" "ABCA4_000137" "g.94486888G>C" "4, 121404, 0, 0.00003295" "{PMID:Fujinami 2013:23982839}" "" "c.4926C>G, p.Ser1642Arg" "" "Germline" "-" "" "0" "" "" "g.94021332G>C" "" "VUS" ""
"0000124653" "0" "70" "1" "94506923" "94506923" "subst" "2.43657E-5" "01695" "ABCA4_000012" "g.94506923C>T" "3, 121394, 0, 0.00002471" "{PMID:Fujinami 2013:23982839}" "" "c.3364G>A, p.Glu1122Lys" "" "Germline" "-" "" "0" "" "" "g.94041367C>T" "" "likely pathogenic" ""
"0000124654" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Fujinami 2013:23982839}" "" "c.5882G>A, p.Gly1961Glu" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000124655" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Fujinami 2013:23982839}" "" "c.5882G>A, p.Gly1961Glu" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000124656" "0" "50" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "24, 119274, 0, 0.0002012" "{PMID:Fujinami 2013:23982839}" "" "c.4139C>T, p.Pro1380Leu" "" "Germline" "-" "" "0" "" "" "g.94031110G>A" "" "VUS" ""
"0000124657" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "13, 121216, 0, 0.0001072" "{PMID:Fujinami 2013:23982839}" "" "c.768G>T, Splice site" "" "Germline" "-" "" "0" "" "" "g.94098794C>A" "" "pathogenic" ""
"0000124658" "0" "50" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Fujinami 2013:23982839}" "" "c.2588 G>C, p.Gly863Ala" "" "Germline" "?" "rs76157638" "0" "" "" "g.94051698C>G" "" "VUS" ""
"0000124659" "0" "50" "1" "94495009" "94495009" "dup" "0" "01695" "ABCA4_000087" "g.94495009dup" "" "{PMID:Fujinami 2013:23982839}" "" "c.4537_4538insC, p.Gly1513Pro fs*1554" "" "Germline" "-" "" "0" "" "" "g.94029453dup" "" "VUS" ""
"0000124660" "0" "70" "1" "94544249" "94544249" "subst" "8.12196E-6" "01695" "ABCA4_000323" "g.94544249A>G" "" "{PMID:Fujinami 2013:23982839}" "" "c.1253T>C, p.Phe418Ser" "" "Germline" "-" "" "0" "" "" "g.94078693A>G" "" "likely pathogenic" ""
"0000124661" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "26, 121404, 0, 0.0002142" "{PMID:Fujinami 2013:23982839}" "" "c.6079C>T, p.Leu2027Phe" "" "Germline" "?" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic" ""
"0000124662" "0" "50" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "26, 121404, 0, 0.0002142" "{PMID:Fujinami 2013:23982839}" "" "c.6079C>T, p.Leu2027Phe" "" "Germline" "-" "" "0" "" "" "g.94005509G>A" "" "VUS" ""
"0000124663" "0" "90" "1" "94577135" "94577135" "subst" "2.43718E-5" "01695" "ABCA4_000240" "g.94577135C>T" "2, 121210, 0, 0.0000165" "{PMID:Fujinami 2013:23982839}" "" "c.161G>A, p.Cys54Tyr" "" "Germline" "-" "" "0" "" "" "g.94111579C>T" "" "pathogenic" ""
"0000124664" "0" "70" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Fujinami 2013:23982839}" "" "c.5461-10T>C, uncertain effect" "" "Germline" "-" "" "0" "" "" "g.94011395A>G" "" "likely pathogenic" ""
"0000124665" "0" "50" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "26, 121404, 0, 0.0002142" "{PMID:Fujinami 2013:23982839}" "" "c.6079C>T, p.Leu2027Phe" "" "Germline" "?" "" "0" "" "" "g.94005509G>A" "" "VUS" ""
"0000124666" "0" "50" "1" "94577010" "94577010" "subst" "4.06679E-6" "01695" "ABCA4_000225" "g.94577010T>G" "" "{PMID:Fujinami 2013:23982839}" "" "c.286A>C, p.Asn96His" "" "Germline" "-" "" "0" "" "" "g.94111454T>G" "" "VUS" ""
"0000124667" "0" "90" "1" "94577135" "94577135" "subst" "2.43718E-5" "01695" "ABCA4_000240" "g.94577135C>T" "2, 121210, 0, 0.0000165" "{PMID:Fujinami 2013:23982839}" "" "c.161G>A, p.Cys54Tyr" "" "Germline" "-" "" "0" "" "" "g.94111579C>T" "" "pathogenic" ""
"0000124668" "0" "90" "1" "94544185" "94544185" "subst" "8.12137E-6" "01695" "ABCA4_000177" "g.94544185C>T" "1, 121412, 0, 0.000008236" "{PMID:Fujinami 2013:23982839}" "" "c.1317G>A, p.Trp439*" "" "Germline" "-" "" "0" "" "" "g.94078629C>T" "" "pathogenic" ""
"0000124669" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Fujinami 2013:23982839}" "" "c.2588 G>C, p.Gly863Ala" "" "Germline" "?" "rs76157638" "0" "" "" "g.94051698C>G" "" "pathogenic" ""
"0000124670" "0" "50" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Fujinami 2013:23982839}" "" "c.2588 G>C, p.Gly863Ala" "" "Germline" "-" "rs76157638" "0" "" "" "g.94051698C>G" "" "VUS" ""
"0000124671" "0" "50" "1" "94486858" "94486858" "subst" "0" "01695" "ABCA4_000482" "g.94486858A>C" "" "{PMID:Fujinami 2013:23982839}" "" "c.4956T>G, p.Tyr1652*" "" "Germline" "-" "" "0" "" "" "g.94021302A>C" "" "VUS" ""
"0000124672" "0" "50" "1" "94508435" "94508436" "dup" "0" "01695" "ABCA4_000998" "g.94508435_94508436dup" "" "{PMID:Fujinami 2013:23982839}" "" "c.3211_3212insGT, p.Ser1071Cys fs*1084" "" "Germline" "-" "" "0" "" "" "g.94042879_94042880dup" "" "VUS" ""
"0000124673" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Fujinami 2013:23982839}" "" "c.2588 G>C, p.Gly863Ala" "" "Germline" "-" "rs76157638" "0" "" "" "g.94051698C>G" "" "likely pathogenic" ""
"0000124674" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "14, 121282, 0, 0.0001154" "{PMID:Fujinami 2013:23982839}" "" "c.3322C>T,p.Arg1108Cys" "" "Germline" "?" "" "0" "" "" "g.94042767G>A" "" "pathogenic" ""
"0000124675" "0" "50" "1" "94466422" "94466422" "subst" "2.43651E-5" "01695" "ABCA4_000817" "g.94466422C>T" "3, 121398, 0, 0.00002471" "{PMID:Fujinami 2013:23982839}" "" "c.6449G>A, p.Cys2150Tyr" "" "Germline" "-" "" "0" "" "" "g.94000866C>T" "" "VUS" ""
"0000124676" "0" "50" "1" "94509026" "94509026" "subst" "4.06497E-5" "01695" "ABCA4_000660" "g.94509026G>A" "5, 120988, 0, 0.00004133" "{PMID:Fujinami 2013:23982839}" "" "c.3056C>T, p.Thr1019Met" "" "Germline" "-" "" "0" "" "" "g.94043470G>A" "" "VUS" ""
"0000124677" "0" "50" "1" "94509026" "94509026" "subst" "4.06497E-5" "01695" "ABCA4_000660" "g.94509026G>A" "5, 120988, 0, 0.00004133" "{PMID:Fujinami 2013:23982839}" "" "c.3056C>T, p.Thr1019Met" "" "Germline" "-" "" "0" "" "" "g.94043470G>A" "" "VUS" ""
"0000124678" "0" "50" "1" "94466422" "94466422" "subst" "2.43651E-5" "01695" "ABCA4_000817" "g.94466422C>T" "3, 121398, 0, 0.00002471" "{PMID:Fujinami 2013:23982839}" "" "c.6449G>A, p.Cys2150Tyr" "" "Germline" "-" "" "0" "" "" "g.94000866C>T" "" "VUS" ""
"0000124679" "0" "70" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Fujinami 2013:23982839}" "" "c.5461-10T>C, uncertain effect" "" "Germline" "-" "" "0" "" "" "g.94011395A>G" "" "likely pathogenic" ""
"0000124680" "0" "50" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "26, 121404, 0, 0.0002142" "{PMID:Fujinami 2013:23982839}" "" "c.6079C>T, p.Leu2027Phe" "" "Germline" "?" "" "0" "" "" "g.94005509G>A" "" "VUS" ""
"0000124681" "0" "50" "1" "94509026" "94509026" "subst" "4.06497E-5" "01695" "ABCA4_000660" "g.94509026G>A" "5, 120988, 0, 0.00004133" "{PMID:Fujinami 2013:23982839}" "" "c.3056C>T, p.Asp574Asp fs*582" "" "Germline" "-" "" "0" "" "" "g.94043470G>A" "" "VUS" ""
"0000124682" "0" "50" "1" "94568675" "94568675" "subst" "0.00146249" "01695" "ABCA4_000210" "g.94568675T>C" "159, 120956, 0, 0.001315" "{PMID:Fujinami 2013:23982839}" "" "c.466A>G, p.Ile156Val" "On its own not significantely found more often in published STGD compared to ExAC (p-value 0.50). However, together with other non-significant variants published related to STGD, they are significantly more often in STGD patients (p-value <0.01)." "Germline" "-" "" "0" "" "" "g.94103119T>C" "" "VUS" ""
"0000124683" "0" "50" "1" "94508322" "94508322" "subst" "1.62513E-5" "01695" "ABCA4_000128" "g.94508322C>T" "2, 121288, 0, 0.00001649" "{PMID:Fujinami 2013:23982839}" "" "c.3323G>A, p.Arg1108His" "" "Germline" "-" "" "0" "" "" "g.94042766C>T" "" "VUS" ""
"0000124684" "0" "50" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Fujinami 2013:23982839}" "" "c.2588 G>C, p.Gly863Ala" "" "Germline" "-" "rs76157638" "0" "" "" "g.94051698C>G" "" "VUS" ""
"0000124685" "0" "70" "1" "94578596" "94578596" "subst" "4.06478E-6" "01695" "ABCA4_000250" "g.94578596C>T" "" "{PMID:Fujinami 2013:23982839}" "" "c.93G>A, p.Tyr31*" "" "Germline" "-" "" "0" "" "" "g.94113040C>T" "" "likely pathogenic" ""
"0000124686" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Fujinami 2013:23982839}" "" "c.5882G>A, p.Gly1961Glu" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "pathogenic" ""
"0000124687" "0" "50" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "26, 121404, 0, 0.0002142" "{PMID:Fujinami 2013:23982839}" "" "c.6079C>T, p.Leu2027Phe" "" "Germline" "-" "" "0" "" "" "g.94005509G>A" "" "VUS" ""
"0000124688" "0" "70" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "14, 120056, 0, 0.0001166" "{PMID:Fujinami 2013:23982839}" "" "c.634C>T, p.Arg212Cys" "" "Germline" "-" "" "0" "" "" "g.94098928G>A" "" "likely pathogenic" ""
"0000124689" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "24, 119274, 0, 0.0002012" "{PMID:Fujinami 2013:23982839}" "" "c.4139C>T, p.Pro1380Leu" "" "Germline" "?" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic" ""
"0000124690" "0" "70" "1" "94508386" "94508386" "subst" "1.62443E-5" "01695" "ABCA4_000642" "g.94508386C>T" "4, 121376, 0, 0.00003296" "{PMID:Fujinami 2013:23982839}" "" "c.3259G>A, p.Glu1087Lys" "" "Germline" "-" "" "0" "" "" "g.94042830C>T" "" "likely pathogenic" ""
"0000124691" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Fujinami 2013:23982839}" "" "c.5882G>A, p.Gly1961Glu" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000124692" "0" "70" "1" "94510253" "94510253" "subst" "0.000247694" "01695" "ABCA4_000108" "g.94510253A>G" "36, 121412, 0, 0.0002965" "{PMID:Fujinami 2013:23982839}" "" "c.2966T>C, p.Val989Ala" "" "Germline" "-" "" "0" "" "" "g.94044697A>G" "" "likely pathogenic" ""
"0000124693" "0" "70" "1" "94466658" "94466658" "subst" "8.14817E-6" "01695" "ABCA4_000132" "g.94466658C>T" "1, 120798, 0, 0.000008278" "{PMID:Fujinami 2013:23982839}" "" "c.6286G>A, p.Glu2096Lys" "" "Germline" "?" "" "0" "" "" "g.94001102C>T" "" "likely pathogenic" ""
"0000124694" "0" "50" "1" "94490567" "94490567" "subst" "5.68528E-5" "01695" "ABCA4_000026" "g.94490567G>A" "4, 121406, 0, 0.00003295" "{PMID:Fujinami 2013:23982839}" "" "c.4577C>T, p.Thr1526Met" "" "Germline" "-" "" "0" "" "" "g.94025011G>A" "" "VUS" ""
"0000124695" "0" "50" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "24, 119274, 0, 0.0002012" "{PMID:Fujinami 2013:23982839}" "" "c.4139C>T, p.Pro1380Leu" "" "Germline" "-" "" "0" "" "" "g.94031110G>A" "" "VUS" ""
"0000124696" "0" "50" "1" "94490567" "94490567" "subst" "5.68528E-5" "01695" "ABCA4_000026" "g.94490567G>A" "4, 121406, 0, 0.00003295" "{PMID:Fujinami 2013:23982839}" "" "c.4577C>T, p.Thr1526Met" "" "Germline" "-" "" "0" "" "" "g.94025011G>A" "" "VUS" ""
"0000124697" "0" "30" "1" "94526296" "94526296" "subst" "1.64555E-5" "01695" "ABCA4_000768" "g.94526296G>A" "1, 96614, 0, 0.00001035" "{PMID:Fujinami 2013:23982839}" "" "c.1957C>T, p.Arg653Cys" "" "Germline" "-" "" "0" "" "" "g.94060740G>A" "" "likely benign" ""
"0000124698" "0" "70" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "227, 121250, 3, 0.001872" "{PMID:Fujinami 2013:23982839}" "" "c.6320G>A, p.Arg2107His" "" "Germline" "?" "" "0" "" "" "g.94001068C>T" "" "likely pathogenic" ""
"0000124699" "0" "50" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "13, 121216, 0, 0.0001072" "{PMID:Fujinami 2013:23982839}" "" "c.768G>T, Splice site" "" "Germline" "-" "" "0" "" "" "g.94098794C>A" "" "VUS" ""
"0000124700" "0" "50" "1" "94508322" "94508322" "subst" "1.62513E-5" "01695" "ABCA4_000128" "g.94508322C>T" "2, 121288, 0, 0.00001649" "{PMID:Fujinami 2013:23982839}" "" "c.3323G>A, p.Arg1108His" "" "Germline" "-" "" "0" "" "" "g.94042766C>T" "" "VUS" ""
"0000124701" "0" "70" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Fujinami 2013:23982839}" "" "c.5461-10T>C, uncertain effect" "" "Germline" "?" "" "0" "" "" "g.94011395A>G" "" "likely pathogenic" ""
"0000124702" "0" "70" "1" "94486896" "94486896" "subst" "3.65562E-5" "01695" "ABCA4_000085" "g.94486896G>A" "1, 121394, 0, 0.000008238" "{PMID:Fujinami 2013:23982839}" "" "c.4918C>T, p.Arg1640Trp" "" "Germline" "-" "" "0" "" "" "g.94021340G>A" "" "likely pathogenic" ""
"0000124703" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "26, 121404, 0, 0.0002142" "{PMID:Fujinami 2013:23982839}" "" "c.6079C>T, p.Leu2027Phe" "" "Germline" "?" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic" ""
"0000124704" "0" "90" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "15, 121412, 0, 0.0001235" "{PMID:Fujinami 2013:23982839}" "" "c.1622T>C, p.Leu541Pro c.3113C>T, p.Ala1038Val" "" "Germline" "-" "" "0" "" "" "g.94063250A>G" "" "pathogenic" ""
"0000124705" "0" "70" "1" "94564500" "94564501" "del" "0" "01695" "ABCA4_000382" "g.94564500_94564501del" "" "{PMID:Fujinami 2013:23982839}" "" "c.617_618delCG, p.Ser206Arg fs*320" "" "Germline" "?" "" "0" "" "" "g.94098944_94098945del" "" "likely pathogenic" ""
"0000124706" "0" "90" "1" "94578618" "94578618" "subst" "0.000166918" "01695" "ABCA4_000252" "g.94578618C>T" "23, 120444, 0, 0.000191" "{PMID:Fujinami 2013:23982839}" "" "c.71G>A, p.Arg24His" "" "Germline" "-" "" "0" "" "" "g.94113062C>T" "" "pathogenic" ""
"0000124707" "0" "70" "1" "94463488" "94463488" "subst" "5.2803E-5" "01695" "ABCA4_000802" "g.94463488G>A" "6, 121316, 0, 0.00004946" "{PMID:Fujinami 2013:23982839}" "" "c.6658C>T, p.Gln2220*" "" "Germline" "?" "" "0" "" "" "g.93997932G>A" "" "likely pathogenic" ""
"0000124708" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Fujinami 2013:23982839}" "" "c.5461-10T>C, uncertain effect" "" "Germline" "-" "" "0" "" "" "g.94011395A>G" "" "pathogenic" ""
"0000124709" "0" "50" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "42, 120772, 0, 0.0003478" "{PMID:Fujinami 2013:23982839}" "" "c.5714+5G>A, Splice site" "" "Germline" "?" "" "0" "" "" "g.94010795C>T" "" "VUS" ""
"0000124710" "0" "50" "1" "94522300" "94522300" "del" "0" "01695" "ABCA4_000744" "g.94522300del" "" "{PMID:Fujinami 2013:23982839}" "" "c.2239delC,p.Leu747Cys fs*787" "" "Germline" "-" "" "0" "" "" "g.94056744del" "" "VUS" ""
"0000124711" "0" "50" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Fujinami 2013:23982839}" "" "c.5461-10T>C, uncertain effect" "" "Germline" "-" "" "0" "" "" "g.94011395A>G" "" "VUS" ""
"0000124712" "0" "70" "1" "94508435" "94508436" "dup" "0" "01695" "ABCA4_000998" "g.94508435_94508436dup" "" "{PMID:Fujinami 2013:23982839}" "" "c.3211_3212insGT,p.Ser1071Cys fs*1084" "" "Germline" "-" "" "0" "" "" "g.94042879_94042880dup" "" "likely pathogenic" ""
"0000124713" "0" "90" "1" "94490567" "94490567" "subst" "5.68528E-5" "01695" "ABCA4_000026" "g.94490567G>A" "4, 121406, 0, 0.00003295" "{PMID:Fujinami 2013:23982839}" "" "c.4577C>T, p.Thr1526Met" "" "Germline" "?" "" "0" "" "" "g.94025011G>A" "" "pathogenic" ""
"0000124714" "0" "50" "1" "94577073" "94577073" "subst" "0" "01695" "ABCA4_000231" "g.94577073A>C" "" "{PMID:Fujinami 2013:23982839}" "" "c.223T>C, p.Cys75Gly" "" "Germline" "-" "" "0" "" "" "g.94111517A>C" "" "VUS" ""
"0000124715" "0" "70" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "13, 121216, 0, 0.0001072" "{PMID:Kjellström 2014:24453473}" "" "c768 G>T" "" "Germline" "-" "" "0" "" "" "g.94098794C>A" "" "likely pathogenic" ""
"0000124716" "0" "50" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "21, 121302, 0, 0.0001731" "{PMID:Kjellström 2014:24453473}" "" "c2894 A>G" "" "Germline" "?" "" "0" "" "" "g.94046943T>C" "" "VUS" ""
"0000124717" "3" "50" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "13, 121216, 0, 0.0001072" "{PMID:Kjellström 2014:24453473}" "" "c768 G>T" "" "Germline" "yes" "" "0" "" "" "g.94098794C>A" "" "VUS" ""
"0000124718" "0" "70" "1" "94473278" "94473278" "del" "3.25908E-5" "01695" "ABCA4_000392" "g.94473278del" "" "{PMID:Kjellström 2014:24453473}" "" "c5917 delG" "" "Germline" "-" "" "0" "" "" "g.94007722del" "" "likely pathogenic" ""
"0000124719" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Kjellström 2014:24453473}" "" "c5882 G>A" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "pathogenic" ""
"0000124720" "3" "90" "1" "94473278" "94473278" "del" "3.25908E-5" "01695" "ABCA4_000392" "g.94473278del" "" "{PMID:Kjellström 2014:24453473}" "" "c5917 delG" "" "Germline" "yes" "" "0" "" "" "g.94007722del" "" "pathogenic" ""
"0000124721" "0" "70" "1" "94473278" "94473278" "del" "3.25908E-5" "01695" "ABCA4_000392" "g.94473278del" "" "{PMID:Kjellström 2014:24453473}, {PMID:Kjellström 2015:26261413}" "" "c5917 delG" "" "Germline" "-" "" "0" "" "" "g.94007722del" "" "likely pathogenic" ""
"0000124722" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Kjellström 2014:24453473}, {PMID:Kjellström 2015:26261413}" "" "c5882 G>A" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "pathogenic" ""
"0000124723" "0" "70" "1" "94473278" "94473278" "del" "3.25908E-5" "01695" "ABCA4_000392" "g.94473278del" "" "{PMID:Kjellström 2014:24453473}" "" "c5917 delG" "" "Germline" "-" "" "0" "" "" "g.94007722del" "" "likely pathogenic" ""
"0000124724" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Kjellström 2014:24453473}" "" "c5882 G>A" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "pathogenic" ""
"0000124725" "0" "30" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "13, 121216, 0, 0.0001072" "{PMID:Kjellström 2014:24453473}" "" "c768 G>T" "" "Germline" "-" "" "0" "" "" "g.94098794C>A" "" "likely benign" ""
"0000124726" "0" "50" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "173, 121304, 0, 0.001426" "{PMID:Kjellström 2014:24453473}" "" "c3113 C>T" "" "Germline" "yes" "" "0" "" "" "g.94043413G>A" "" "VUS" ""
"0000124727" "3" "50" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "13, 121216, 0, 0.0001072" "{PMID:Kjellström 2014:24453473}" "" "c768 G>T" "" "Germline" "yes" "" "0" "" "" "g.94098794C>A" "" "VUS" ""
"0000124728" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Miraldi 2014:24457364}" "" "c.5882G>A" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000124729" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Miraldi 2014:24457364}" "" "c.5882G>A" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000124730" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Miraldi 2014:24457364}" "" "c.5882G>A" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000124731" "0" "70" "1" "94486896" "94486896" "subst" "3.65562E-5" "01695" "ABCA4_000085" "g.94486896G>A" "1, 121394, 0, 0.000008238" "{PMID:Miraldi 2014:24457364}" "" "c.4918C>T" "" "Germline" "?" "" "0" "" "" "g.94021340G>A" "" "likely pathogenic" ""
"0000124732" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Miraldi 2014:24457364}" "" "c.5882G>A" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "pathogenic" ""
"0000124733" "0" "70" "1" "94481385" "94481395" "del" "0" "01695" "ABCA4_000459" "g.94481385_94481395del" "" "{PMID:Miraldi 2014:24457364}" "" "c.5222del11" "" "Germline" "?" "" "0" "" "" "g.94015829_94015839del" "" "likely pathogenic" ""
"0000124734" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Miraldi 2014:24457364}" "" "c.5882G>A" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "pathogenic" ""
"0000124735" "0" "70" "1" "94488943" "94488943" "del" "0" "01695" "ABCA4_000513" "g.94488943del" "" "{PMID:Miraldi 2014:24457364}" "" "c.4666delA" "" "Germline" "?" "" "0" "" "" "g.94023387del" "" "likely pathogenic" ""
"0000124736" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Miraldi 2014:24457364}" "" "c.5882G>A" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000124737" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Miraldi 2014:24457364}" "" "c.5882G>A" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000124738" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Miraldi 2014:24457364}" "" "c.5882G>A" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000124739" "1" "50" "1" "94476890" "94476890" "subst" "4.06227E-6" "01695" "ABCA4_000434" "g.94476890G>C" "" "{PMID:Miraldi 2014:24457364}" "" "c.5512C>G, c.5882G>A," "" "Germline" "?" "" "0" "" "" "g.94011334G>C" "" "VUS" ""
"0000124740" "1" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Miraldi 2014:24457364}" "" "c.5512C>G, c.5882G>A," "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000124741" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Miraldi 2014:24457364}" "" "c.5882G>A" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000124742" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Miraldi 2014:24457364}" "" "c.1622T>C, c.3113C>T" "" "Germline" "?" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000124743" "1" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Miraldi 2014:24457364}" "" "c.1622T>C, c.3113C>T" "" "Germline" "?" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic" ""
"0000124744" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Miraldi 2014:24457364}" "" "c.5882G>A" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000124745" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Miraldi 2014:24457364}" "" "c.1622T>C, c.3113C>T" "" "Germline" "?" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000124746" "1" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Miraldi 2014:24457364}" "" "c.1622T>C, c.3113C>T" "" "Germline" "?" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic" ""
"0000124747" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Miraldi 2014:24457364}" "" "c.5882G>A" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000124748" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Miraldi 2014:24457364}" "" "c.5882G>A" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000124749" "0" "70" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "14, 120056, 0, 0.0001166" "{PMID:Miraldi 2014:24457364}" "" "c.634C>T" "" "Germline" "?" "" "0" "" "" "g.94098928G>A" "" "likely pathogenic" ""
"0000124750" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Miraldi 2014:24457364}" "" "c.5882G>A" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000124751" "0" "70" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Miraldi 2014:24457364}" "" "c.5461-10T>C" "" "Germline" "?" "" "0" "" "" "g.94011395A>G" "" "likely pathogenic" ""
"0000124752" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Miraldi 2014:24457364}" "" "c.5882G>A" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000124753" "0" "70" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Miraldi 2014:24457364}" "" "c.5461-10T>C" "" "Germline" "?" "" "0" "" "" "g.94011395A>G" "" "likely pathogenic" ""
"0000124754" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Miraldi 2014:24457364}" "" "c.5882G>A" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "pathogenic" ""
"0000124755" "1" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Miraldi 2014:24457364}" "" "c.5882G>A, c.6386+2C>G" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000124756" "1" "70" "1" "94466556" "94466556" "subst" "4.06164E-6" "01695" "ABCA4_000831" "g.94466556G>C" "" "{PMID:Miraldi 2014:24457364}" "" "c.5882G>A, c.6386+2C>G" "" "Germline" "?" "" "0" "" "" "g.94001000G>C" "" "likely pathogenic" ""
"0000124757" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Miraldi 2014:24457364}" "" "c.5882G>A" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000124758" "1" "70" "1" "94496583" "94496583" "subst" "2.03092E-5" "01695" "ABCA4_000190" "g.94496583A>G" "" "{PMID:Miraldi 2014:24457364}" "" "c.4222T>C (c.4918C>T)" "" "Germline" "?" "" "0" "" "" "g.94031027A>G" "" "likely pathogenic" ""
"0000124759" "1" "70" "1" "94486896" "94486896" "subst" "3.65562E-5" "01695" "ABCA4_000085" "g.94486896G>A" "" "{PMID:Miraldi 2014:24457364}" "" "c.4222T>C (c.4918C>T)" "" "Germline" "?" "" "0" "" "" "g.94021340G>A" "" "likely pathogenic" ""
"0000124760" "0" "70" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Miraldi 2014:24457364}" "" "c.5461-10T>C" "" "Germline" "-" "" "0" "" "" "g.94011395A>G" "" "likely pathogenic" ""
"0000124761" "0" "50" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "15, 121412, 0, 0.0001235" "{PMID:Miraldi 2014:24457364}" "" "c.1622T>C, c.3113C>T" "" "Germline" "?" "" "0" "" "" "g.94063250A>G" "" "VUS" ""
"0000124762" "0" "70" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Miraldi 2014:24457364}" "" "c.5461-10T>C" "" "Germline" "-" "" "0" "" "" "g.94011395A>G" "" "likely pathogenic" ""
"0000124763" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Miraldi 2014:24457364}" "" "c.5882G>A" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000124764" "0" "70" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Miraldi 2014:24457364}" "" "c.5461-10T>C" "" "Germline" "-" "" "0" "" "" "g.94011395A>G" "" "likely pathogenic" ""
"0000124765" "0" "50" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "14, 121282, 0, 0.0001154" "{PMID:Miraldi 2014:24457364}" "" "c.3322C>T" "" "Germline" "?" "" "0" "" "" "g.94042767G>A" "" "VUS" ""
"0000124766" "0" "70" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Miraldi 2014:24457364}" "" "c.5461-10T>C" "" "Germline" "-" "" "0" "" "" "g.94011395A>G" "" "likely pathogenic" ""
"0000124767" "0" "50" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "14, 121282, 0, 0.0001154" "{PMID:Miraldi 2014:24457364}" "" "c.3322C>T" "" "Germline" "?" "" "0" "" "" "g.94042767G>A" "" "VUS" ""
"0000124768" "0" "70" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Miraldi 2014:24457364}" "" "c.5461-10T>C" "" "Germline" "-" "" "0" "" "" "g.94011395A>G" "" "likely pathogenic" ""
"0000124769" "0" "50" "1" "94486895" "94486895" "subst" "3.24923E-5" "01695" "ABCA4_000484" "g.94486895C>T" "7, 121398, 0, 0.00005766" "{PMID:Miraldi 2014:24457364}" "" "c.4919G>A" "" "Germline" "?" "" "0" "" "" "g.94021339C>T" "" "VUS" ""
"0000124770" "0" "70" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Miraldi 2014:24457364}" "" "c.5461-10T>C" "" "Germline" "-" "" "0" "" "" "g.94011395A>G" "" "likely pathogenic" ""
"0000124771" "0" "50" "1" "94528151" "94528151" "subst" "0" "01695" "ABCA4_000265" "g.94528151G>A" "" "{PMID:Miraldi 2014:24457364}" "" "c.1919C>T" "" "Germline" "?" "" "0" "" "" "g.94062595G>A" "" "VUS" ""
"0000124772" "0" "70" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Miraldi 2014:24457364}" "" "c.5461-10T>C" "" "Germline" "-" "" "0" "" "" "g.94011395A>G" "" "likely pathogenic" ""
"0000124773" "0" "50" "1" "94522239" "94522239" "subst" "2.03305E-5" "01695" "ABCA4_000736" "g.94522239A>T" "1, 119332, 0, 0.00000838" "{PMID:Miraldi 2014:24457364}" "" "c.2300T>A" "" "Germline" "?" "" "0" "" "" "g.94056683A>T" "" "VUS" ""
"0000124774" "0" "30" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Miraldi 2014:24457364}" "" "c.5461-10T>C" "" "Germline" "-" "" "0" "" "" "g.94011395A>G" "" "likely benign" ""
"0000124775" "0" "50" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "227, 121250, 3, 0.001872" "{PMID:Miraldi 2014:24457364}" "" "c.6320G>A" "" "Germline" "?" "" "0" "" "" "g.94001068C>T" "" "VUS" ""
"0000124776" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Miraldi 2014:24457364}" "" "c.5461-10T>C" "" "Germline" "-" "" "0" "" "" "g.94011395A>G" "" "pathogenic" ""
"0000124777" "0" "50" "1" "94487399" "94487399" "subst" "7.30959E-5" "01695" "ABCA4_000038" "g.94487399T>C" "14, 121126, 0, 0.0001156" "{PMID:Miraldi 2014:24457364}" "" "c.4773+3A>G" "" "Germline" "?" "" "0" "" "" "g.94021843T>C" "" "VUS" ""
"0000124778" "0" "70" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Miraldi 2014:24457364}" "" "c.5461-10T>C" "" "Germline" "-" "" "0" "" "" "g.94011395A>G" "" "likely pathogenic" ""
"0000124779" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Miraldi 2014:24457364}" "" "c.5882G>A" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000124780" "0" "50" "1" "94578618" "94578618" "subst" "0.000166918" "01695" "ABCA4_000252" "g.94578618C>T" "23, 120444, 0, 0.000191" "{PMID:Jinda 2014:24618324}, {PMID:Jinda 2017:28453600}" "" "c.71G>A" "" "Germline" "-" "" "0" "" "" "g.94113062C>T" "" "VUS" ""
"0000124781" "0" "90" "1" "94528251" "94528251" "subst" "2.84824E-5" "01695" "ABCA4_000281" "g.94528251C>T" "3, 119908, 0, 0.00002502" "{PMID:Zhou 2014:24632595}" "" "1819G>A" "" "Germline" "-" "" "0" "" "" "g.94062695C>T" "" "pathogenic" ""
"0000124782" "0" "70" "1" "94520830" "94520830" "subst" "0" "01695" "ABCA4_000727" "g.94520830G>C" "" "{PMID:Zhou 2014:24632595}" "" "2424C>G" "" "Germline" "yes" "" "0" "" "" "g.94055274G>C" "" "likely pathogenic" ""
"0000124783" "0" "90" "1" "94528251" "94528251" "subst" "2.84824E-5" "01695" "ABCA4_000281" "g.94528251C>T" "3, 119908, 0, 0.00002502" "{PMID:Zhou 2014:24632595}" "" "1819G>A" "" "Germline" "-" "" "0" "" "" "g.94062695C>T" "" "pathogenic" ""
"0000124784" "0" "70" "1" "94520830" "94520830" "subst" "0" "01695" "ABCA4_000727" "g.94520830G>C" "" "{PMID:Zhou 2014:24632595}" "" "2424C>G" "" "Germline" "yes" "" "0" "" "" "g.94055274G>C" "" "likely pathogenic" ""
"0000124785" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Burke 2014:24677105}" "" "p.[L541P;A1038V]" "" "Germline" "-" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000124786" "1" "50" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Burke 2014:24677105}" "" "p.[L541P;A1038V]" "" "Germline" "-" "" "0" "" "" "g.94043413G>A" "" "VUS" ""
"0000124787" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Burke 2014:24677105}" "" "p.[L541P;A1038V]" "" "Germline" "-" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000124788" "1" "50" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Burke 2014:24677105}" "" "p.[L541P;A1038V]" "" "Germline" "-" "" "0" "" "" "g.94043413G>A" "" "VUS" ""
"0000124789" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Burke 2014:24677105}, {PMID:Duncker 2015:26551331}" "" "p.G863A" "" "Germline" "-" "rs76157638" "0" "" "" "g.94051698C>G" "" "pathogenic" ""
"0000124790" "0" "90" "1" "94473790" "94473790" "subst" "0" "01695" "ABCA4_000399" "g.94473790C>T" "" "{PMID:Burke 2014:24677105}, {PMID:Duncker 2015:26551331}" "" "c.5898+1G>A" "" "Germline" "?" "" "0" "" "" "g.94008234C>T" "" "pathogenic" ""
"0000124791" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Burke 2014:24677105}" "" "p.G1961E" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000124792" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "24, 119274, 0, 0.0002012" "{PMID:Burke 2014:24677105}" "" "p.P1380L" "" "Germline" "?" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic" ""
"0000124793" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Burke 2014:24677105}" "" "p.G1961E" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000124794" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Burke 2014:24677105}" "" "p.[L541P;A1038V]" "" "Germline" "?" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000124795" "1" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Burke 2014:24677105}" "" "p.[L541P;A1038V]" "" "Germline" "?" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic" ""
"0000124796" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Burke 2014:24677105}" "" "p.G1961E" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000124797" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Burke 2014:24677105}" "" "p.[L541P;A1038V]" "" "Germline" "?" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000124798" "1" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Burke 2014:24677105}" "" "p.[L541P;A1038V]" "" "Germline" "?" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic" ""
"0000124799" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "26, 121404, 0, 0.0002142" "{PMID:Burke 2014:24677105}" "" "p.L2027F" "" "Germline" "-" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic" ""
"0000124800" "0" "70" "1" "94512478" "94512478" "subst" "3.65871E-5" "01695" "ABCA4_000678" "g.94512478G>T" "7, 121308, 0, 0.0000577" "{PMID:Burke 2014:24677105}" "" "p.T972N" "" "Germline" "?" "" "0" "" "" "g.94046922G>T" "" "likely pathogenic" ""
"0000124801" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Burke 2014:24677105}" "" "p.G1961E" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000124802" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "24, 119274, 0, 0.0002012" "{PMID:Burke 2014:24677105}" "" "p.P1380L" "" "Germline" "?" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic" ""
"0000124803" "0" "50" "1" "94502760" "94502760" "subst" "4.0626E-6" "01695" "ABCA4_000599" "g.94502760C>A" "" "{PMID:Burke 2014:24677105}" "" "p.E1252*" "" "Germline" "-" "" "0" "" "" "g.94037204C>A" "" "VUS" ""
"0000124804" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "26, 121404, 0, 0.0002142" "{PMID:Burke 2014:24677105}" "" "p.L2027F" "" "Germline" "-" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic" ""
"0000124805" "0" "70" "1" "94467467" "94467467" "subst" "4.06164E-6" "01695" "ABCA4_000780" "g.94467467G>A" "" "{PMID:Burke 2014:24677105}" "" "p.R2077W" "" "Germline" "?" "" "0" "" "" "g.94001911G>A" "" "likely pathogenic" ""
"0000124806" "0" "50" "1" "94506806" "94506806" "subst" "0" "01695" "ABCA4_000614" "g.94506806G>T" "" "{PMID:Burke 2014:24677105}" "" "p.R1161S" "" "Germline" "-" "" "0" "" "" "g.94041250G>T" "" "VUS" ""
"0000124807" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Burke 2014:24677105}" "" "p.G1961E" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000124808" "0" "70" "1" "94528162" "94528162" "subst" "0" "01695" "ABCA4_000266" "g.94528162C>A" "" "{PMID:Burke 2014:24677105}" "" "p.Q636H" "" "Germline" "?" "" "0" "" "" "g.94062606C>A" "" "likely pathogenic" ""
"0000124809" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Burke 2014:24677105}" "" "p.[L541P;A1038V]" "" "Germline" "-" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000124810" "1" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Burke 2014:24677105}" "" "p.[L541P;A1038V]" "" "Germline" "-" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic" ""
"0000124811" "0" "70" "1" "94486896" "94486896" "subst" "3.65562E-5" "01695" "ABCA4_000085" "g.94486896G>A" "1, 121394, 0, 0.000008238" "{PMID:Burke 2014:24677105}" "" "p.R1640W" "" "Germline" "?" "" "0" "" "" "g.94021340G>A" "" "likely pathogenic" ""
"0000124812" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Burke 2014:24677105}" "" "p.[L541P;A1038V]" "" "Germline" "-" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000124813" "1" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Burke 2014:24677105}" "" "p.[L541P;A1038V]" "" "Germline" "-" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic" ""
"0000124814" "0" "70" "1" "94486896" "94486896" "subst" "3.65562E-5" "01695" "ABCA4_000085" "g.94486896G>A" "1, 121394, 0, 0.000008238" "{PMID:Burke 2014:24677105}" "" "p.R1640W" "" "Germline" "?" "" "0" "" "" "g.94021340G>A" "" "likely pathogenic" ""
"0000124815" "3" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "24, 119274, 0, 0.0002012" "{PMID:Burke 2014:24677105}" "" "p.P1380L" "" "Germline" "?" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic" ""
"0000124816" "0" "50" "1" "94577046" "94577049" "dup" "0" "01695" "ABCA4_000227" "g.94577046_94577049dup" "" "{PMID:Burke 2014:24677105}" "" "c.250_251insCAAA" "" "Germline" "-" "" "0" "" "" "g.94111490_94111493dup" "" "VUS" ""
"0000124817" "0" "90" "1" "94577135" "94577135" "subst" "2.43718E-5" "01695" "ABCA4_000240" "g.94577135C>T" "2, 121210, 0, 0.0000165" "{PMID:Burke 2014:24677105}" "" "p.C54Y" "" "Germline" "-" "" "0" "" "" "g.94111579C>T" "" "pathogenic" ""
"0000124818" "0" "50" "1" "94487505" "94487505" "subst" "4.06349E-6" "01695" "ABCA4_000507" "g.94487505T>C" "" "{PMID:Burke 2014:24677105}" "" "p.Y1557C" "" "Germline" "-" "" "0" "" "" "g.94021949T>C" "" "VUS" ""
"0000124819" "0" "50" "1" "94487505" "94487505" "subst" "4.06349E-6" "01695" "ABCA4_000507" "g.94487505T>C" "" "{PMID:Burke 2014:24677105}" "" "p.Y1557C" "" "Germline" "-" "" "0" "" "" "g.94021949T>C" "" "VUS" ""
"0000124820" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "26, 121404, 0, 0.0002142" "{PMID:Burke 2014:24677105}" "" "p.L2027F" "" "Germline" "-" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic" ""
"0000124821" "0" "70" "1" "94520702" "94520702" "subst" "0" "01695" "ABCA4_000713" "g.94520702C>T" "" "{PMID:Burke 2014:24677105}" "" "p.G851D" "" "Germline" "?" "" "0" "" "" "g.94055146C>T" "" "likely pathogenic" ""
"0000124822" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "26, 121404, 0, 0.0002142" "{PMID:Burke 2014:24677105}, {PMID:Duncker 2015:26551331}" "" "p.L2027F" "" "Germline" "-" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic" ""
"0000124823" "0" "70" "1" "94520702" "94520702" "subst" "0" "01695" "ABCA4_000713" "g.94520702C>T" "" "{PMID:Burke 2014:24677105}, {PMID:Duncker 2015:26551331}" "" "p.G851D" "" "Germline" "?" "" "0" "" "" "g.94055146C>T" "" "likely pathogenic" ""
"0000124824" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "24, 119274, 0, 0.0002012" "{PMID:Burke 2014:24677105}" "" "p.P1380L" "" "Germline" "-" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic" ""
"0000124825" "0" "70" "1" "94471055" "94471055" "subst" "0.00035346" "01695" "ABCA4_000029" "g.94471055C>T" "47, 121404, 1, 0.0003871" "{PMID:Burke 2014:24677105}" "" "p.R2030Q" "" "Germline" "?" "" "0" "" "" "g.94005499C>T" "" "likely pathogenic" ""
"0000124826" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Burke 2014:24677105}" "" "p.G1961E" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "pathogenic" ""
"0000124827" "0" "70" "1" "94490606" "94490606" "subst" "4.06091E-6" "01695" "ABCA4_000086" "g.94490606T>C" "" "{PMID:Burke 2014:24677105}" "" "c.4540-2A>G" "" "Germline" "?" "" "0" "" "" "g.94025050T>C" "" "likely pathogenic" ""
"0000124828" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Burke 2014:24677105}" "" "p.G1961E" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000124829" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Burke 2014:24677105}" "" "p.[L541P;A1038V]" "" "Germline" "?" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000124830" "1" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Burke 2014:24677105}" "" "p.[L541P;A1038V]" "" "Germline" "?" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic" ""
"0000124831" "0" "50" "1" "94486896" "94486896" "subst" "3.65562E-5" "01695" "ABCA4_000085" "g.94486896G>A" "1, 121394, 0, 0.000008238" "{PMID:Burke 2014:24677105}" "" "p.R1640W" "" "Germline" "-" "" "0" "" "" "g.94021340G>A" "" "VUS" ""
"0000124832" "0" "90" "1" "94480241" "94480241" "subst" "7.71705E-5" "01695" "ABCA4_000446" "g.94480241G>A" "14, 121408, 0, 0.0001153" "{PMID:Burke 2014:24677105}" "" "p.A1773V" "" "Germline" "-" "" "0" "" "" "g.94014685G>A" "" "pathogenic" ""
"0000124833" "0" "70" "1" "94487402" "94487402" "subst" "0" "01695" "ABCA4_000496" "g.94487402C>G" "" "{PMID:Burke 2014:24677105}" "" "p.G1591G" "" "Germline" "?" "" "0" "" "" "g.94021846C>G" "" "likely pathogenic" ""
"0000124834" "0" "70" "1" "94495083" "94495083" "subst" "0.000124542" "01695" "ABCA4_000542" "g.94495083G>A" "11, 77176, 0, 0.0001425" "{PMID:Burke 2014:24677105}" "" "p.P1486L" "" "Germline" "-" "" "0" "" "" "g.94029527G>A" "" "likely pathogenic" ""
"0000124835" "0" "70" "1" "94487251" "94487251" "subst" "2.85679E-5" "01695" "ABCA4_000490" "g.94487251G>T" "3, 113672, 0, 0.00002639" "{PMID:Burke 2014:24677105}" "" "p.A1598D" "" "Germline" "?" "" "0" "" "" "g.94021695G>T" "" "likely pathogenic" ""
"0000124836" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Burke 2014:24677105}" "" "p.G1961E" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000124837" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "24, 119274, 0, 0.0002012" "{PMID:Burke 2014:24677105}" "" "p.P1380L" "" "Germline" "?" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic" ""
"0000124838" "1" "50" "1" "94520694" "94520694" "subst" "8.12414E-6" "01695" "ABCA4_000712" "g.94520694C>T" "" "{PMID:Burke 2014:24677105}, {PMID:Duncker 2015:26024099}" "" "p.[A854T;A1038V];" "" "Germline" "-" "" "0" "" "" "g.94055138C>T" "" "VUS" ""
"0000124839" "1" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Burke 2014:24677105}, {PMID:Duncker 2015:26024099}" "" "p.[A854T;A1038V];" "" "Germline" "-" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic" ""
"0000124840" "0" "70" "1" "94466422" "94466422" "subst" "2.43651E-5" "01695" "ABCA4_000817" "g.94466422C>T" "3, 121398, 0, 0.00002471" "{PMID:Burke 2014:24677105}, {PMID:Duncker 2015:26024099}" "" "p.C2150Y" "" "Germline" "?" "" "0" "" "" "g.94000866C>T" "" "likely pathogenic" ""
"0000124841" "0" "50" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "14, 120056, 0, 0.0001166" "{PMID:Burke 2014:24677105}" "" "p.R212C" "" "Germline" "-" "" "0" "" "" "g.94098928G>A" "" "VUS" ""
"0000124842" "0" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "173, 121304, 0, 0.001426" "{PMID:Burke 2014:24677105}" "" "p.A1038V" "" "Germline" "-" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic" ""
"0000124843" "0" "30" "1" "94520711" "94520711" "subst" "0" "01695" "ABCA4_000715" "g.94520711G>T" "" "{PMID:Burke 2014:24677105}" "" "p.A848D" "" "Germline" "?" "" "0" "" "" "g.94055155G>T" "" "likely benign" ""
"0000124844" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "26, 121404, 0, 0.0002142" "{PMID:Burke 2014:24677105}" "" "p.L2027F" "" "Germline" "-" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic" ""
"0000124845" "0" "70" "1" "94508322" "94508322" "subst" "1.62513E-5" "01695" "ABCA4_000128" "g.94508322C>T" "2, 121288, 0, 0.00001649" "{PMID:Burke 2014:24677105}" "" "p.R1108H" "" "Germline" "?" "" "0" "" "" "g.94042766C>T" "" "likely pathogenic" ""
"0000124846" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Burke 2014:24677105}" "" "p.G1961E" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000124847" "0" "70" "1" "94471055" "94471055" "subst" "0.00035346" "01695" "ABCA4_000029" "g.94471055C>T" "47, 121404, 1, 0.0003871" "{PMID:Burke 2014:24677105}" "" "p.R2030Q" "" "Germline" "?" "" "0" "" "" "g.94005499C>T" "" "likely pathogenic" ""
"0000124848" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "24, 119274, 0, 0.0002012" "{PMID:Burke 2014:24677105}" "" "p.P1380L" "" "Germline" "-" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic" ""
"0000124849" "0" "70" "1" "94508322" "94508322" "subst" "1.62513E-5" "01695" "ABCA4_000128" "g.94508322C>T" "2, 121288, 0, 0.00001649" "{PMID:Burke 2014:24677105}" "" "p.R1108H" "" "Germline" "?" "" "0" "" "" "g.94042766C>T" "" "likely pathogenic" ""
"0000124850" "0" "70" "1" "94520793" "94520793" "subst" "8.13292E-6" "01695" "ABCA4_000723" "g.94520793A>T" "1, 121346, 0, 0.000008241" "{PMID:Burke 2014:24677105}" "" "p.W821R" "" "Germline" "-" "" "0" "" "" "g.94055237A>T" "" "likely pathogenic" ""
"0000124851" "0" "70" "1" "94466422" "94466422" "subst" "2.43651E-5" "01695" "ABCA4_000817" "g.94466422C>T" "3, 121398, 0, 0.00002471" "{PMID:Burke 2014:24677105}" "" "p.C2150Y" "" "Germline" "?" "" "0" "" "" "g.94000866C>T" "" "likely pathogenic" ""
"0000124852" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Burke 2014:24677105}, {PMID:Nõupuu 2014:25301883}" "" "p.G1961E" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000124853" "0" "70" "1" "94506902" "94506902" "subst" "1.21834E-5" "01695" "ABCA4_000623" "g.94506902G>A" "2, 121396, 0, 0.00001648" "{PMID:Burke 2014:24677105}, {PMID:Nõupuu 2014:25301883}" "" "p.R1129C" "" "Germline" "?" "" "0" "" "" "g.94041346G>A" "" "likely pathogenic" ""
"0000124854" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Burke 2014:24677105}" "" "p.[L541P;A1038V]" "" "Germline" "-" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000124855" "1" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Burke 2014:24677105}" "" "p.[L541P;A1038V]" "" "Germline" "-" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic" ""
"0000124856" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "26, 121404, 0, 0.0002142" "{PMID:Burke 2014:24677105}" "" "p.L2027F" "" "Germline" "?" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic" ""
"0000124857" "0" "50" "1" "94486896" "94486896" "subst" "3.65562E-5" "01695" "ABCA4_000085" "g.94486896G>A" "1, 121394, 0, 0.000008238" "{PMID:Burke 2014:24677105}" "" "p.R1640W" "" "Germline" "-" "" "0" "" "" "g.94021340G>A" "" "VUS" ""
"0000124858" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "14, 121282, 0, 0.0001154" "{PMID:Burke 2014:24677105}, {PMID:Duncker 2015:26551331}" "" "p.R1108C" "" "Germline" "-" "" "0" "" "" "g.94042767G>A" "" "pathogenic" ""
"0000124859" "0" "70" "1" "94496571" "94496571" "subst" "4.06174E-6" "01695" "ABCA4_000111" "g.94496571G>A" "" "{PMID:Burke 2014:24677105}, {PMID:Duncker 2015:26551331}" "" "p.Q1412*" "" "Germline" "?" "" "0" "" "" "g.94031015G>A" "" "likely pathogenic" ""
"0000124860" "11" "70" "1" "94496548" "94496548" "subst" "2.43787E-5" "01695" "ABCA4_000088" "g.94496548G>A" "2, 120802, 0, 0.00001656" "{PMID:Zernant 2014:25082829}" "" "c.4253+4C>T" "" "Germline" "-" "" "0" "" "" "g.94030992G>A" "" "likely pathogenic" ""
"0000124861" "21" "50" "1" "94492937" "94492937" "subst" "0" "01695" "ABCA4_000529" "g.94492937G>A" "" "{PMID:Zernant 2014:25082829}" "" "c.[4539+2064C>T; 5461-1389A>G]" "" "Germline" "yes" "" "0" "" "" "g.94027381G>A" "" "VUS" ""
"0000124862" "21" "50" "1" "94478330" "94478330" "subst" "0" "01695" "ABCA4_000195" "g.94478330G>T" "" "{PMID:Zernant 2014:25082829}" "" "c.[4539+2064C>T; 5461-1389A>G]" "" "Germline" "yes" "" "0" "" "" "g.94012774G>T" "" "VUS" ""
"0000124863" "11" "70" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "30, 121388, 0, 0.0002471" "{PMID:Zernant 2014:25082829}" "" "p.R1129L" "" "Germline" "-" "" "0" "" "" "g.94041345C>A" "" "likely pathogenic" ""
"0000124864" "21" "50" "1" "94492937" "94492937" "subst" "0" "01695" "ABCA4_000529" "g.94492937G>A" "" "{PMID:Zernant 2014:25082829}" "" "c.[4539+2064C>T; 5461-1389A>G]" "" "Germline" "yes" "" "0" "" "" "g.94027381G>A" "" "VUS" ""
"0000124865" "21" "70" "1" "94478330" "94478330" "subst" "0" "01695" "ABCA4_000195" "g.94478330G>T" "" "{PMID:Zernant 2014:25082829}" "" "c.[4539+2064C>T; 5461-1389A>G]" "" "Germline" "yes" "" "0" "" "" "g.94012774G>T" "" "likely pathogenic" ""
"0000124866" "0" "70" "1" "94495083" "94495083" "subst" "0.000124542" "01695" "ABCA4_000542" "g.94495083G>A" "11, 77176, 0, 0.0001425" "{PMID:Zernant 2014:25082829}" "" "p.P1486L" "" "Germline" "-" "" "0" "" "" "g.94029527G>A" "" "likely pathogenic" ""
"0000124867" "1" "50" "1" "94492937" "94492937" "subst" "0" "01695" "ABCA4_000529" "g.94492937G>A" "" "{PMID:Zernant 2014:25082829}" "" "c.[4539+2064C>T; 5461-1389A>G]" "" "Germline" "yes" "" "0" "" "" "g.94027381G>A" "" "VUS" ""
"0000124868" "1" "70" "1" "94478330" "94478330" "subst" "0" "01695" "ABCA4_000195" "g.94478330G>T" "" "{PMID:Zernant 2014:25082829}" "" "c.[4539+2064C>T; 5461-1389A>G]" "" "Germline" "yes" "" "0" "" "" "g.94012774G>T" "" "likely pathogenic" ""
"0000124869" "10" "90" "1" "94484082" "94484082" "subst" "0" "01695" "ABCA4_000028" "g.94484082T>C" "" "{PMID:Zernant 2014:25082829}" "" "c.5196+1056A>G" "" "Germline" "-" "" "0" "" "" "g.94018526T>C" "" "pathogenic" ""
"0000124870" "21" "70" "1" "94509026" "94509026" "subst" "4.06497E-5" "01695" "ABCA4_000660" "g.94509026G>A" "5, 120988, 0, 0.00004133" "{PMID:Zernant 2014:25082829}" "" "p.T1019M" "" "Germline" "yes" "" "0" "" "" "g.94043470G>A" "" "likely pathogenic" ""
"0000124871" "21" "90" "1" "94546283" "94546283" "subst" "8.18311E-5" "01695" "ABCA4_000356" "g.94546283A>G" "18, 120572, 0, 0.0001493" "{PMID:Zernant 2014:25082829}, {PMID:Duncker 2015:26551331}" "" "c.859-9T>C" "" "Germline" "-" "" "0" "" "" "g.94080727A>G" "" "pathogenic" ""
"0000124872" "11" "50" "1" "94473278" "94473278" "del" "3.25908E-5" "01695" "ABCA4_000392" "g.94473278del" "" "{PMID:Zernant 2014:25082829}, {PMID:Duncker 2015:26551331}" "" "c.5917del" "" "Germline" "yes" "" "0" "" "" "g.94007722del" "" "VUS" ""
"0000124873" "21" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Zernant 2014:25082829}" "" "p.G1961E" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000124874" "11" "70" "1" "94526934" "94526934" "subst" "0" "01695" "ABCA4_000771" "g.94526934T>C" "" "{PMID:Zernant 2014:25082829}" "" "c.1938-619A>G" "" "Germline" "yes" "" "0" "" "" "g.94061378T>C" "" "likely pathogenic" ""
"0000124875" "0" "70" "1" "94577010" "94577010" "subst" "1.22004E-5" "01695" "ABCA4_000224" "g.94577010T>C" "3, 119734, 0, 0.00002506" "{PMID:Nõupuu 2014:25301883}, {PMID:Duncker 2015:26551331}" "" "c.[286A>G]" "" "Germline" "-" "" "0" "" "" "g.94111454T>C" "" "likely pathogenic" ""
"0000124876" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Nõupuu 2014:25301883}, {PMID:Duncker 2015:26551331}" "" "c.[5882G>A]" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000124877" "0" "70" "1" "94577010" "94577010" "subst" "1.22004E-5" "01695" "ABCA4_000224" "g.94577010T>C" "3, 119734, 0, 0.00002506" "{PMID:Nõupuu 2014:25301883}, {PMID:Duncker 2015:26551331}" "" "c.[286A>G]" "" "Germline" "-" "" "0" "" "" "g.94111454T>C" "" "likely pathogenic" ""
"0000124878" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Nõupuu 2014:25301883}, {PMID:Duncker 2015:26551331}" "" "c.[5882G>A]" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000124879" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Nõupuu 2014:25301883}" "" "c.[1622T>C(;)3113C>T(;)5882G>A]" "" "Germline" "-" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000124880" "1" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Nõupuu 2014:25301883}" "" "c.[1622T>C(;)3113C>T(;)5882G>A]" "" "Germline" "-" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic" ""
"0000124881" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Nõupuu 2014:25301883}" "" "c.[1622T>C(;)3113C>T(;)5882G>A]" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000124882" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Nõupuu 2014:25301883}" "" "c.[1622T>C(;)3113C>T(;)5882G>A]" "" "Germline" "-" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000124883" "1" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Nõupuu 2014:25301883}" "" "c.[1622T>C(;)3113C>T(;)5882G>A]" "" "Germline" "-" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic" ""
"0000124884" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Nõupuu 2014:25301883}" "" "c.[1622T>C(;)3113C>T(;)5882G>A]" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000124885" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Nõupuu 2014:25301883}" "" "c.[1622T>C;3113C>T]" "" "Germline" "-" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000124886" "1" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Nõupuu 2014:25301883}" "" "c.[1622T>C;3113C>T]" "" "Germline" "-" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic" ""
"0000124887" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Nõupuu 2014:25301883}" "" "c.[5882G>A]" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000124888" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Nõupuu 2014:25301883}" "" "c.[1622T>C;3113C>T]" "" "Germline" "-" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000124889" "1" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Nõupuu 2014:25301883}" "" "c.[1622T>C;3113C>T]" "" "Germline" "-" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic" ""
"0000124890" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Nõupuu 2014:25301883}" "" "c.[5882G>A]" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000124891" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "15, 121412, 0, 0.0001235" "{PMID:Nõupuu 2014:25301883}" "" "c.[1622T>C]" "" "Germline" "-" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000124892" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Nõupuu 2014:25301883}" "" "c.[5882G>A]" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000124893" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "15, 121412, 0, 0.0001235" "{PMID:Nõupuu 2014:25301883}" "" "c.[1622T>C]" "" "Germline" "-" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000124894" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Nõupuu 2014:25301883}" "" "c.[5882G>A]" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000124895" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Nõupuu 2014:25301883}, {PMID:Duncker 2015:26551331}" "" "c.[5882G>A]" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000124896" "0" "70" "1" "94466423" "94466423" "subst" "0" "01695" "ABCA4_000818" "g.94466423A>G" "" "{PMID:Nõupuu 2014:25301883}, {PMID:Duncker 2015:26551331}" "" "c.[6448T>C]" "" "Germline" "yes" "" "0" "" "" "g.94000867A>G" "" "likely pathogenic" ""
"0000124897" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "24, 119274, 0, 0.0002012" "{PMID:Nõupuu 2014:25301883}" "" "c.[4139C>T]" "" "Germline" "-" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic" ""
"0000124898" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Nõupuu 2014:25301883}" "" "c.[5882G>A]" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000124899" "0" "70" "1" "94480241" "94480241" "subst" "7.71705E-5" "01695" "ABCA4_000446" "g.94480241G>A" "14, 121408, 0, 0.0001153" "{PMID:Nõupuu 2014:25301883}" "" "c.[5318C>T(;)5882G>A]" "" "Germline" "-" "" "0" "" "" "g.94014685G>A" "" "likely pathogenic" ""
"0000124900" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Nõupuu 2014:25301883}" "" "c.[5318C>T(;)5882G>A]" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000124901" "0" "70" "1" "94484082" "94484082" "subst" "0" "01695" "ABCA4_000028" "g.94484082T>C" "" "{PMID:Nõupuu 2014:25301883}" "" "c.[5196+1056A>G]" "" "Germline" "-" "" "0" "" "" "g.94018526T>C" "" "likely pathogenic" ""
"0000124902" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Nõupuu 2014:25301883}" "" "c.[5882G>A]" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "pathogenic" ""
"0000124903" "0" "70" "1" "94520793" "94520793" "subst" "8.13292E-6" "01695" "ABCA4_000723" "g.94520793A>T" "1, 121346, 0, 0.000008241" "{PMID:Nõupuu 2014:25301883}, {PMID:Duncker 2015:25283059}" "" "c.[2461T>A]" "" "Germline" "-" "" "0" "" "" "g.94055237A>T" "" "likely pathogenic" ""
"0000124904" "0" "70" "1" "94466422" "94466422" "subst" "2.43651E-5" "01695" "ABCA4_000817" "g.94466422C>T" "3, 121398, 0, 0.00002471" "{PMID:Nõupuu 2014:25301883}, {PMID:Duncker 2015:25283059}" "" "c.[6449G>A]" "" "Germline" "yes" "" "0" "" "" "g.94000866C>T" "" "likely pathogenic" ""
"0000124905" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Nõupuu 2014:25301883}" "" "c.[5882G>A(;)6229C>T]" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000124906" "0" "70" "1" "94467467" "94467467" "subst" "4.06164E-6" "01695" "ABCA4_000780" "g.94467467G>A" "" "{PMID:Nõupuu 2014:25301883}" "" "c.[5882G>A(;)6229C>T]" "" "Germline" "?" "" "0" "" "" "g.94001911G>A" "" "likely pathogenic" ""
"0000124907" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Nõupuu 2014:25301883}" "" "c.[1622T>C;4328G>A]" "" "Germline" "-" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000124908" "1" "70" "1" "94496008" "94496008" "subst" "2.03056E-5" "01695" "ABCA4_000148" "g.94496008C>T" "" "{PMID:Nõupuu 2014:25301883}" "" "c.[1622T>C;4328G>A]" "" "Germline" "-" "" "0" "" "" "g.94030452C>T" "" "likely pathogenic" ""
"0000124909" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Nõupuu 2014:25301883}" "" "c.[5882G>A]" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000124910" "3" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Nõupuu 2014:25301883}" "" "p.[(G1961E)]" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000124911" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Nõupuu 2014:25301883}" "" "p.[(L541P(;)A1038V(;)G1961E)]" "" "Germline" "-" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000124912" "1" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Nõupuu 2014:25301883}" "" "p.[(L541P(;)A1038V(;)G1961E)]" "" "Germline" "-" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic" ""
"0000124913" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Nõupuu 2014:25301883}" "" "p.[(L541P(;)A1038V(;)G1961E)]" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000124914" "0" "70" "1" "94490550" "94490550" "subst" "0.000105588" "01695" "ABCA4_000523" "g.94490550C>T" "11, 121406, 0, 0.00009061" "{PMID:Nõupuu 2014:25301883}" "" "p.[(D1532N)]" "" "Germline" "-" "" "0" "" "" "g.94024994C>T" "" "likely pathogenic" ""
"0000124915" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Nõupuu 2014:25301883}" "" "p.[(G1961E)]" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000124916" "0" "70" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "14, 120056, 0, 0.0001166" "{PMID:Nõupuu 2014:25301883}" "" "p.[(R212C)]" "" "Germline" "-" "" "0" "" "" "g.94098928G>A" "" "likely pathogenic" ""
"0000124917" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Nõupuu 2014:25301883}" "" "p.[(G1961E)]" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000124918" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "24, 119274, 0, 0.0002012" "{PMID:Nõupuu 2014:25301883}" "" "p.[(P1380L)]" "" "Germline" "-" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic" ""
"0000124919" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Nõupuu 2014:25301883}" "" "p.[(G1961E)]" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000124920" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "24, 119274, 0, 0.0002012" "{PMID:Nõupuu 2014:25301883}" "" "p.[(P1380L)]" "" "Germline" "-" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic" ""
"0000124921" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Nõupuu 2014:25301883}" "" "p.[(G1961E)]" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000124922" "0" "70" "1" "94526265" "94526265" "subst" "0" "01695" "ABCA4_000143" "g.94526265C>T" "" "{PMID:Nõupuu 2014:25301883}" "" "p.[(W663*)]" "" "Germline" "-" "" "0" "" "" "g.94060709C>T" "" "likely pathogenic" ""
"0000124923" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Nõupuu 2014:25301883}" "" "p.[(G1961E)]" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "pathogenic" ""
"0000124924" "0" "70" "1" "94486794" "94486794" "subst" "0" "01695" "ABCA4_000478" "g.94486794A>G" "" "{PMID:Nõupuu 2014:25301883}" "" "c.5018+2T>C" "" "Germline" "-" "" "0" "" "" "g.94021238A>G" "" "likely pathogenic" ""
"0000124925" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Nõupuu 2014:25301883}" "" "p.(G1961E)" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "pathogenic" ""
"0000124926" "0" "70" "1" "94510272" "94510272" "subst" "4.06062E-6" "01695" "ABCA4_000070" "g.94510272T>C" "" "{PMID:Nõupuu 2014:25301883}" "" "p.[(T983A)]" "" "Germline" "-" "" "0" "" "" "g.94044716T>C" "" "likely pathogenic" ""
"0000124927" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Nõupuu 2014:25301883}" "" "p.[(G1961E)]" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000124928" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Nõupuu 2014:25301883}, {PMID:Duncker 2015:25283059}" "" "p.(G1961E)" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000124929" "0" "70" "1" "94463399" "94463413" "del" "0" "01695" "ABCA4_000851" "g.94463399_94463413del" "" "{PMID:Nõupuu 2014:25301883}, {PMID:Duncker 2015:25283059}" "" "c.6729+4_+18del" "" "Germline" "yes" "" "0" "" "" "g.93997843_93997857del" "" "likely pathogenic" ""
"0000124930" "0" "70" "1" "94586557" "94586557" "subst" "4.06134E-6" "01695" "ABCA4_000259" "g.94586557C>T" "" "{PMID:Nõupuu 2014:25301883}, {PMID:Duncker 2015:25283059}" "" "p.[(W15*)]" "" "Germline" "-" "" "0" "" "" "g.94121001C>T" "" "likely pathogenic" ""
"0000124931" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Nõupuu 2014:25301883}, {PMID:Duncker 2015:25283059}" "" "p.[(G1961E)]" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "pathogenic" ""
"0000124932" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Nõupuu 2014:25301883}" "" "p.[(G1961E(;)C2150Y)]" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000124933" "0" "70" "1" "94466422" "94466422" "subst" "2.43651E-5" "01695" "ABCA4_000817" "g.94466422C>T" "3, 121398, 0, 0.00002471" "{PMID:Nõupuu 2014:25301883}" "" "p.[(G1961E(;)C2150Y)]" "" "Germline" "?" "" "0" "" "" "g.94000866C>T" "" "likely pathogenic" ""
"0000124934" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "24, 119274, 0, 0.0002012" "{PMID:Nõupuu 2014:25301883}" "" "p.[(P1380L)]" "" "Germline" "-" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic" ""
"0000124935" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Nõupuu 2014:25301883}" "" "p.[(G1961E)]" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000124936" "0" "70" "1" "94586601" "94586601" "subst" "8.12156E-6" "01695" "ABCA4_000264" "g.94586601T>C" "" "{PMID:Nõupuu 2014:25301883}" "" "[c.1A>G;p.R2030Q]" "" "Germline" "-" "" "0" "" "" "g.94121045T>C" "" "likely pathogenic" ""
"0000124937" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Nõupuu 2014:25301883}" "" "p.[(G1961E)]" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "pathogenic" ""
"0000124938" "3" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Nõupuu 2014:25301883}" "" "p.[(G1961E)]" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000124939" "0" "70" "1" "94480241" "94480241" "subst" "7.71705E-5" "01695" "ABCA4_000446" "g.94480241G>A" "14, 121408, 0, 0.0001153" "{PMID:Nõupuu 2014:25301883}, {PMID:Duncker 2015:26551331}" "" "p.[(A1773V)]" "" "Germline" "-" "" "0" "" "" "g.94014685G>A" "" "likely pathogenic" ""
"0000124940" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Nõupuu 2014:25301883}, {PMID:Duncker 2015:26551331}" "" "p.[(G1961E)]" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000124941" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Nõupuu 2014:25301883}" "" "p.[(G1961E)" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000124942" "0" "70" "1" "94525509" "94525509" "subst" "0" "01695" "ABCA4_000747" "g.94525509T>C" "" "{PMID:Nõupuu 2014:25301883}" "" "c.2160+584A>G]" "" "Germline" "?" "" "0" "" "" "g.94059953T>C" "" "likely pathogenic" ""
"0000124943" "0" "70" "1" "94510164" "94510164" "subst" "1.62441E-5" "01695" "ABCA4_000144" "g.94510164C>T" "2, 121386, 0, 0.00001648" "{PMID:Nõupuu 2014:25301883}" "" "c.3050+5G>A" "" "Germline" "-" "" "0" "" "" "g.94044608C>T" "" "likely pathogenic" ""
"0000124944" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Nõupuu 2014:25301883}" "" "p.(G1961E)" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000124945" "0" "70" "1" "94545018" "94545018" "subst" "0" "01695" "ABCA4_000333" "g.94545018C>T" "" "{PMID:Nõupuu 2014:25301883}" "" "c.1100-1G>A" "" "Germline" "-" "" "0" "" "" "g.94079462C>T" "" "likely pathogenic" ""
"0000124946" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Nõupuu 2014:25301883}" "" "p.(G1961E)" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "pathogenic" ""
"0000124947" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Nõupuu 2014:25301883}" "" "p.(G1961E)" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "pathogenic" ""
"0000124948" "0" "70" "1" "94466602" "94466602" "subst" "1.62472E-5" "01695" "ABCA4_000035" "g.94466602C>T" "1, 121354, 0, 0.00000824" "{PMID:Nõupuu 2014:25301883}" "" "c.6342G>A" "" "Germline" "?" "" "0" "" "" "g.94001046C>T" "" "likely pathogenic" ""
"0000124949" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Nõupuu 2014:25301883}" "" "p.[(G863A)]" "" "Germline" "-" "rs76157638" "0" "" "" "g.94051698C>G" "" "likely pathogenic" ""
"0000124950" "1" "70" "1" "94502756" "94502756" "subst" "0.000422575" "01695" "ABCA4_000032" "g.94502756G>A" "" "{PMID:Nõupuu 2014:25301883}" "" "p.[(T1253M;G1961E)]" "" "Germline" "?" "" "0" "" "" "g.94037200G>A" "" "likely pathogenic" ""
"0000124951" "1" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Nõupuu 2014:25301883}" "" "p.[(T1253M;G1961E)]" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "pathogenic" ""
"0000124952" "0" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "12, 60116, 0, 0.0001996" "{PMID:Nõupuu 2014:25301883}" "" "p.[(C1490Y)]" "" "Germline" "-" "" "0" "" "" "g.94029515C>T" "" "likely pathogenic" ""
"0000124953" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Nõupuu 2014:25301883}" "" "p.[(G1961E)]" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000124954" "0" "70" "1" "94495000" "94495000" "subst" "0" "01695" "ABCA4_000164" "g.94495000C>A" "" "{PMID:Nõupuu 2014:25301883}" "" "c.4539+1G>T" "" "Germline" "-" "" "0" "" "" "g.94029444C>A" "" "likely pathogenic" ""
"0000124955" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Nõupuu 2014:25301883}" "" "p.(G1961E)" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "pathogenic" ""
"0000124956" "0" "70" "1" "94496589" "94496589" "subst" "0" "01695" "ABCA4_000568" "g.94496589G>A" "" "{PMID:Nõupuu 2014:25301883}" "" "p.[(H1406Y)]" "" "Germline" "-" "" "0" "" "" "g.94031033G>A" "" "likely pathogenic" ""
"0000124957" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Nõupuu 2014:25301883}" "" "p.[(G1961E)]" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000124958" "0" "70" "1" "94510212" "94510212" "subst" "0" "01695" "ABCA4_000665" "g.94510212G>A" "" "{PMID:Nõupuu 2014:25301883}, {PMID:Duncker 2015:25283059}" "" "p.[(Q1003*)]" "" "Germline" "-" "" "0" "" "" "g.94044656G>A" "" "likely pathogenic" ""
"0000124959" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Nõupuu 2014:25301883}, {PMID:Duncker 2015:25283059}" "" "p.[(G1961E)]" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "pathogenic" ""
"0000124960" "0" "70" "1" "94502756" "94502756" "subst" "0.000422575" "01695" "ABCA4_000032" "g.94502756G>A" "37, 121234, 1, 0.0003052" "{PMID:Nõupuu 2014:25301883}" "" "p.[(T1253M)]" "On its own not significantely found more often in published STGD compared to ExAC (p-value 0.14). However, together with other non-significant variants published related to STGD, they are significantly more often in STGD patients (p-value <0.01)." "Germline" "-" "" "0" "" "" "g.94037200G>A" "" "likely pathogenic" ""
"0000124961" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Nõupuu 2014:25301883}" "" "p.[(G1961E)]" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000124962" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "24, 119274, 0, 0.0002012" "{PMID:Nõupuu 2014:25301883}" "" "p.[(P1380L)]" "" "Germline" "-" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic" ""
"0000124963" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Nõupuu 2014:25301883}" "" "p.[(G1961E)]" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000124964" "0" "70" "1" "94486794" "94486794" "subst" "0" "01695" "ABCA4_000478" "g.94486794A>G" "" "{PMID:Nõupuu 2014:25301883}" "" "c.5018+2T>C" "" "Germline" "-" "" "0" "" "" "g.94021238A>G" "" "likely pathogenic" ""
"0000124965" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Nõupuu 2014:25301883}" "" "p.(G1961E)" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "pathogenic" ""
"0000124966" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "24, 119274, 0, 0.0002012" "{PMID:Nõupuu 2014:25301883}" "" "p.[(T1253M(;)P1380L(;)G1961E)]" "" "Germline" "-" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic" ""
"0000124967" "1" "70" "1" "94502756" "94502756" "subst" "0.000422575" "01695" "ABCA4_000032" "g.94502756G>A" "" "{PMID:Nõupuu 2014:25301883}" "" "p.[(T1253M(;)P1380L(;)G1961E)]" "" "Germline" "?" "" "0" "" "" "g.94037200G>A" "" "likely pathogenic" ""
"0000124968" "1" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Nõupuu 2014:25301883}" "" "p.[(T1253M(;)P1380L(;)G1961E)]" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000124969" "0" "70" "1" "94544209" "94544209" "subst" "0" "01695" "ABCA4_000113" "g.94544209C>T" "" "{PMID:Bauwens 2014:25346251}" "" "c.1293G>A" "" "Germline" "-" "" "0" "" "" "g.94078653C>T" "" "likely pathogenic" ""
"0000124970" "0" "90" "1" "94493000" "94493000" "subst" "0" "01695" "ABCA4_000015" "g.94493000C>T" "" "{PMID:Bauwens 2014:25346251}" "" "c.4539+2001G>A" "" "Germline" "?" "" "0" "" "" "g.94027444C>T" "" "pathogenic" ""
"0000124971" "0" "70" "1" "94495009" "94495009" "dup" "0" "01695" "ABCA4_000087" "g.94495009dup" "" "{PMID:Bauwens 2014:25346251}" "" "c.4537_4538insC" "" "Germline" "-" "" "0" "" "" "g.94029453dup" "" "likely pathogenic" ""
"0000124972" "0" "90" "1" "94493000" "94493000" "subst" "0" "01695" "ABCA4_000015" "g.94493000C>T" "" "{PMID:Bauwens 2014:25346251}" "" "c.4539+2001G>A" "" "Germline" "?" "" "0" "" "" "g.94027444C>T" "" "pathogenic" ""
"0000124973" "0" "70" "1" "94496547" "94496547" "subst" "1.21904E-5" "01695" "ABCA4_000560" "g.94496547C>T" "" "{PMID:Bauwens 2014:25346251}" "" "c.4253+5G>A" "" "Germline" "-" "" "0" "" "" "g.94030991C>T" "" "likely pathogenic" ""
"0000124974" "0" "50" "1" "94493000" "94493000" "subst" "0" "01695" "ABCA4_000015" "g.94493000C>T" "" "{PMID:Bauwens 2014:25346251}" "" "c.4539+2001G>A" "" "Germline" "?" "" "0" "" "" "g.94027444C>T" "" "VUS" ""
"0000124975" "0" "70" "1" "94485173" "94485174" "del" "0" "01695" "ABCA4_000468" "g.94485173_94485174del" "" "{PMID:Bauwens 2014:25346251}" "" "c.5160_5161del" "" "Germline" "-" "" "0" "" "" "g.94019617_94019618del" "" "likely pathogenic" ""
"0000124976" "0" "90" "1" "94493000" "94493000" "subst" "0" "01695" "ABCA4_000015" "g.94493000C>T" "" "{PMID:Bauwens 2014:25346251}" "" "c.4539+2001G>A" "" "Germline" "?" "" "0" "" "" "g.94027444C>T" "" "pathogenic" ""
"0000124977" "21" "70" "1" "94463568" "94463603" "del" "0" "01695" "ABCA4_000805" "g.94463568_94463603del" "" "{PMID:Bauwens 2014:25346251}" "" "c.6543_6578del" "" "Germline" "-" "" "0" "" "" "g.93998012_93998047del" "" "likely pathogenic" ""
"0000124978" "11" "70" "1" "94493000" "94493000" "subst" "0" "01695" "ABCA4_000015" "g.94493000C>T" "" "{PMID:Bauwens 2014:25346251}" "" "c.4539+2001G>A" "" "Germline" "?" "" "0" "" "" "g.94027444C>T" "" "likely pathogenic" ""
"0000124979" "0" "70" "1" "94486794" "94486794" "subst" "0" "01695" "ABCA4_000478" "g.94486794A>G" "" "{PMID:Bauwens 2014:25346251}" "" "c.5018+2T>C" "" "Germline" "-" "" "0" "" "" "g.94021238A>G" "" "likely pathogenic" ""
"0000124980" "0" "90" "1" "94493000" "94493000" "subst" "0" "01695" "ABCA4_000015" "g.94493000C>T" "" "{PMID:Bauwens 2014:25346251}" "" "c.4539+2001G>A" "" "Germline" "?" "" "0" "" "" "g.94027444C>T" "" "pathogenic" ""
"0000124981" "21" "70" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "13, 121216, 0, 0.0001072" "{PMID:Bauwens 2014:25346251}" "" "c.768G>T" "" "Germline" "-" "" "0" "" "" "g.94098794C>A" "" "likely pathogenic" ""
"0000124982" "11" "50" "1" "94493000" "94493000" "subst" "0" "01695" "ABCA4_000015" "g.94493000C>T" "" "{PMID:Bauwens 2014:25346251}" "" "c.4539+2001G>A" "" "Germline" "?" "" "0" "" "" "g.94027444C>T" "" "VUS" ""
"0000124983" "0" "70" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Bauwens 2014:25346251}" "" "c.5461-10T>C" "" "Germline" "-" "" "0" "" "" "g.94011395A>G" "" "likely pathogenic" ""
"0000124984" "0" "50" "1" "94493000" "94493000" "subst" "0" "01695" "ABCA4_000015" "g.94493000C>T" "" "{PMID:Bauwens 2014:25346251}" "" "c.4539+2001G>A" "" "Germline" "?" "" "0" "" "" "g.94027444C>T" "" "VUS" ""
"0000124985" "0" "70" "1" "94496547" "94496547" "subst" "1.21904E-5" "01695" "ABCA4_000560" "g.94496547C>T" "" "{PMID:Bauwens 2014:25346251}" "" "c.4253+5G>A" "" "Germline" "-" "" "0" "" "" "g.94030991C>T" "" "likely pathogenic" ""
"0000124986" "0" "50" "1" "94493000" "94493000" "subst" "0" "01695" "ABCA4_000015" "g.94493000C>T" "" "{PMID:Bauwens 2014:25346251}" "" "c.4539+2001G>A" "" "Germline" "?" "" "0" "" "" "g.94027444C>T" "" "VUS" ""
"0000124987" "0" "70" "1" "94578618" "94578618" "subst" "0.000166918" "01695" "ABCA4_000252" "g.94578618C>T" "23, 120444, 0, 0.000191" "{PMID:Bauwens 2014:25346251}" "" "c.71G>A" "" "Germline" "-" "" "0" "" "" "g.94113062C>T" "" "likely pathogenic" ""
"0000124988" "0" "70" "1" "94493000" "94493000" "subst" "0" "01695" "ABCA4_000015" "g.94493000C>T" "" "{PMID:Bauwens 2014:25346251}" "" "c.4539+2001G>A" "" "Germline" "?" "" "0" "" "" "g.94027444C>T" "" "likely pathogenic" ""
"0000124989" "0" "70" "1" "94486896" "94486896" "subst" "3.65562E-5" "01695" "ABCA4_000085" "g.94486896G>A" "1, 121394, 0, 0.000008238" "{PMID:Bauwens 2014:25346251}" "" "c.4918c>t" "" "Germline" "-" "" "0" "" "" "g.94021340G>A" "" "likely pathogenic" ""
"0000124990" "0" "70" "1" "94493000" "94493000" "subst" "0" "01695" "ABCA4_000015" "g.94493000C>T" "" "{PMID:Bauwens 2014:25346251}" "" "c.4539+2001G>A" "" "Germline" "?" "" "0" "" "" "g.94027444C>T" "" "likely pathogenic" ""
"0000124991" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "26, 121404, 0, 0.0002142" "{PMID:Bauwens 2014:25346251}" "" "c.6079C>T" "" "Germline" "-" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic" ""
"0000124992" "0" "70" "1" "94493000" "94493000" "subst" "0" "01695" "ABCA4_000015" "g.94493000C>T" "" "{PMID:Bauwens 2014:25346251}" "" "c.4539+2001G>A" "" "Germline" "?" "" "0" "" "" "g.94027444C>T" "" "likely pathogenic" ""
"0000124993" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Bauwens 2014:25346251}" "" "c.5882G>A" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000124994" "0" "70" "1" "94493000" "94493000" "subst" "0" "01695" "ABCA4_000015" "g.94493000C>T" "" "{PMID:Bauwens 2014:25346251}" "" "c.4539+2001G>A" "" "Germline" "?" "" "0" "" "" "g.94027444C>T" "" "likely pathogenic" ""
"0000124995" "0" "70" "1" "94471046" "94471046" "subst" "0" "01695" "ABCA4_000793" "g.94471046A>C" "" "{PMID:Bauwens 2014:25346251}" "" "c.6098T>G" "" "Germline" "-" "" "0" "" "" "g.94005490A>C" "" "likely pathogenic" ""
"0000124996" "0" "70" "1" "94493000" "94493000" "subst" "0" "01695" "ABCA4_000015" "g.94493000C>T" "" "{PMID:Bauwens 2014:25346251}" "" "c.4539+2001G>A" "" "Germline" "yes" "" "0" "" "" "g.94027444C>T" "" "likely pathogenic" ""
"0000124997" "0" "90" "1" "94471046" "94471046" "subst" "0" "01695" "ABCA4_000793" "g.94471046A>C" "" "{PMID:Bauwens 2014:25346251}" "" "c.6098T>G" "" "Germline" "-" "" "0" "" "" "g.94005490A>C" "" "pathogenic" ""
"0000124998" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Bauwens 2014:25346251}" "" "c.2588G>C" "" "Germline" "?" "rs76157638" "0" "" "" "g.94051698C>G" "" "likely pathogenic" ""
"0000124999" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Bauwens 2014:25346251}" "" "c.2588G>C" "" "Germline" "-" "rs76157638" "0" "" "" "g.94051698C>G" "" "likely pathogenic" ""
"0000125000" "0" "90" "1" "94493000" "94493000" "subst" "0" "01695" "ABCA4_000015" "g.94493000C>T" "" "{PMID:Bauwens 2014:25346251}" "" "c.4539+2001G>A" "" "Germline" "?" "" "0" "" "" "g.94027444C>T" "" "pathogenic" ""
"0000125001" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Bauwens 2014:25346251}" "" "c.2588G>C" "" "Germline" "-" "rs76157638" "0" "" "" "g.94051698C>G" "" "likely pathogenic" ""
"0000125002" "0" "90" "1" "94493000" "94493000" "subst" "0" "01695" "ABCA4_000015" "g.94493000C>T" "" "{PMID:Bauwens 2014:25346251}" "" "c.4539+2001G>A" "" "Germline" "?" "" "0" "" "" "g.94027444C>T" "" "pathogenic" ""
"0000125003" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Bauwens 2014:25346251}" "" "c.2588G>C" "" "Germline" "-" "rs76157638" "0" "" "" "g.94051698C>G" "" "likely pathogenic" ""
"0000125004" "0" "90" "1" "94493000" "94493000" "subst" "0" "01695" "ABCA4_000015" "g.94493000C>T" "" "{PMID:Bauwens 2014:25346251}" "" "c.4539+2001G>A" "" "Germline" "?" "" "0" "" "" "g.94027444C>T" "" "pathogenic" ""
"0000125005" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Bauwens 2014:25346251}" "" "c.2588G>C" "" "Germline" "-" "rs76157638" "0" "" "" "g.94051698C>G" "" "likely pathogenic" ""
"0000125006" "0" "90" "1" "94493000" "94493000" "subst" "0" "01695" "ABCA4_000015" "g.94493000C>T" "" "{PMID:Bauwens 2014:25346251}" "" "c.4539+2001G>A" "" "Germline" "?" "" "0" "" "" "g.94027444C>T" "" "pathogenic" ""
"0000125007" "0" "50" "1" "94493000" "94493000" "subst" "0" "01695" "ABCA4_000015" "g.94493000C>T" "" "{PMID:Bauwens 2014:25346251}" "" "c.4539+2001G>A" "" "Germline" "-" "" "0" "" "" "g.94027444C>T" "" "VUS" ""
"0000125008" "0" "50" "1" "94493000" "94493000" "subst" "0" "01695" "ABCA4_000015" "g.94493000C>T" "" "{PMID:Bauwens 2014:25346251}" "" "c.4539+2001G>A" "" "Germline" "-" "" "0" "" "" "g.94027444C>T" "" "VUS" ""
"0000125009" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Bauwens 2014:25346251}" "" "c.5882G>A" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000125010" "0" "50" "1" "94526212" "94526212" "subst" "1.22012E-5" "01695" "ABCA4_000075" "g.94526212G>A" "3, 120836, 0, 0.00002483" "{PMID:Bauwens 2014:25346251}" "" "c.2041C>T" "" "Germline" "-" "" "0" "" "" "g.94060656G>A" "" "VUS" ""
"0000125011" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Bauwens 2014:25346251}" "" "c.5882G>A" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000125012" "0" "50" "1" "94546167" "94546167" "del" "0" "01695" "ABCA4_000348" "g.94546167del" "" "{PMID:Bauwens 2014:25346251}" "" "c.967del" "" "Germline" "-" "" "0" "" "" "g.94080611del" "" "VUS" ""
"0000125013" "0" "50" "1" "94487404" "94487404" "subst" "0.00244055" "01695" "ABCA4_000497" "g.94487404C>T" "317, 121146, 0, 0.002617" "{PMID:Bauwens 2014:25346251}" "" "c.4771G>A" "" "Germline" "-" "" "0" "" "" "g.94021848C>T" "" "VUS" ""
"0000125014" "0" "50" "1" "94522239" "94522239" "subst" "2.03305E-5" "01695" "ABCA4_000736" "g.94522239A>T" "1, 119332, 0, 0.00000838" "{PMID:Bauwens 2014:25346251}" "" "c.2300T>A" "" "Germline" "-" "" "0" "" "" "g.94056683A>T" "" "VUS" ""
"0000125015" "0" "50" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Bauwens 2014:25346251}" "" "c.2584+4G>C" "" "Germline" "-" "rs76157638" "0" "" "" "g.94051698C>G" "" "VUS" ""
"0000125016" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Bauwens 2014:25346251}" "" "c.5882G>A" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000125017" "0" "50" "1" "94564378" "94564378" "subst" "8.12222E-6" "01695" "ABCA4_000367" "g.94564378T>C" "" "{PMID:Bauwens 2014:25346251}" "" "c.740A>G" "" "Germline" "-" "" "0" "" "" "g.94098822T>C" "" "VUS" ""
"0000125018" "0" "50" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Bauwens 2014:25346251}" "" "c.5461-10T>C" "" "Germline" "-" "" "0" "" "" "g.94011395A>G" "" "VUS" ""
"0000125019" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Bauwens 2014:25346251}" "" "c.5882G>A" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000125020" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Bauwens 2014:25346251}" "" "c.[1622T>C;3113C>T]" "" "Germline" "-" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000125021" "1" "50" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Bauwens 2014:25346251}" "" "c.[1622T>C;3113C>T]" "" "Germline" "-" "" "0" "" "" "g.94043413G>A" "" "VUS" ""
"0000125022" "0" "50" "1" "94473287" "94473287" "subst" "0.00293818" "01695" "ABCA4_000395" "g.94473287G>A" "352, 120336, 1, 0.002925" "{PMID:Bauwens 2014:25346251}" "" "c.5908C>T" "" "Germline" "-" "" "0" "" "" "g.94007731G>A" "" "VUS" ""
"0000125023" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Bauwens 2014:25346251}" "" "c.5882T>C" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000125024" "0" "50" "1" "94476377" "94476377" "subst" "0.00160473" "01695" "ABCA4_000411" "g.94476377C>T" "216, 121058, 1, 0.001784" "{PMID:Bauwens 2014:25346251}" "" "c.5693G>A" "On its own not significantely found more often in published STGD compared to ExAC (p-value 0.39). However, together with other non-significant variants published related to STGD, they are significantly more often in STGD patients (p-value <0.01)." "Germline" "-" "" "0" "" "" "g.94010821C>T" "" "VUS" ""
"0000125025" "0" "50" "1" "94490534" "94490534" "subst" "0.000125895" "01695" "ABCA4_000520" "g.94490534G>A" "14, 121396, 0, 0.0001153" "{PMID:Bauwens 2014:25346251}" "" "c.4610C>T" "" "Germline" "-" "" "0" "" "" "g.94024978G>A" "" "VUS" ""
"0000125026" "0" "50" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "173, 121304, 0, 0.001426" "{PMID:Bauwens 2014:25346251}" "" "c.3113C>T" "" "Germline" "-" "" "0" "" "" "g.94043413G>A" "" "VUS" ""
"0000125027" "0" "90" "1" "94528251" "94528251" "subst" "2.84824E-5" "01695" "ABCA4_000281" "g.94528251C>T" "3, 119908, 0, 0.00002502" "{PMID:Bauwens 2014:25346251}" "" "c.1819G>A" "" "Germline" "-" "" "0" "" "" "g.94062695C>T" "" "pathogenic" ""
"0000125028" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Bauwens 2014:25346251}" "" "c.5882G>A" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000125029" "0" "50" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "42, 120772, 0, 0.0003478" "{PMID:Bauwens 2014:25346251}" "" "c.5714+5A>G" "" "Germline" "-" "" "0" "" "" "g.94010795C>T" "" "VUS" ""
"0000125030" "0" "50" "1" "94577102" "94577102" "subst" "4.06161E-6" "01695" "ABCA4_000033" "g.94577102C>T" "" "{PMID:Bauwens 2014:25346251}" "" "c.194G>A" "" "Germline" "-" "" "0" "" "" "g.94111546C>T" "" "VUS" ""
"0000125031" "0" "50" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Bauwens 2014:25346251}" "" "c.5461-10T>C" "" "Germline" "-" "" "0" "" "" "g.94011395A>G" "" "VUS" ""
"0000125032" "0" "50" "1" "94471055" "94471055" "subst" "0.00035346" "01695" "ABCA4_000029" "g.94471055C>T" "47, 121404, 1, 0.0003871" "{PMID:Bauwens 2014:25346251}" "" "c.6089G>A" "" "Germline" "-" "" "0" "" "" "g.94005499C>T" "" "VUS" ""
"0000125033" "0" "50" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Bauwens 2014:25346251}" "" "c.5461-10T>C" "" "Germline" "-" "" "0" "" "" "g.94011395A>G" "" "VUS" ""
"0000125034" "0" "50" "1" "94502906" "94502906" "subst" "0.000314086" "01695" "ABCA4_000605" "g.94502906C>T" "41, 120342, 0, 0.0003407" "{PMID:Bauwens 2014:25346251}" "" "c.3608G>A" "On its own not significantely found more often in published STGD compared to ExAC (p-value 0.89). However, together with other non-significant variants published related to STGD, they are significantly more often in STGD patients (p-value <0.01)." "Germline" "-" "" "0" "" "" "g.94037350C>T" "" "VUS" ""
"0000125035" "0" "50" "1" "94467548" "94467548" "subst" "0.00295661" "01695" "ABCA4_000788" "g.94467548C>G" "334, 121350, 0, 0.002752" "{PMID:Bauwens 2014:25346251}" "" "c.6148G>C" "" "Germline" "-" "" "0" "" "" "g.94001992C>G" "" "VUS" ""
"0000125036" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Bauwens 2014:25346251}" "" "c.5882G>A" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000125037" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Bauwens 2014:25346251}" "" "c.[1622T>C;3113C>T]" "" "Germline" "-" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000125038" "1" "50" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Bauwens 2014:25346251}" "" "c.[1622T>C;3113C>T]" "" "Germline" "-" "" "0" "" "" "g.94043413G>A" "" "VUS" ""
"0000125039" "0" "70" "1" "94544183" "94544183" "subst" "0.000146186" "01695" "ABCA4_000317" "g.94544183T>C" "23, 121412, 0, 0.0001894" "{PMID:Bauwens 2014:25346251}" "" "c.1319A>G" "" "Germline" "-" "" "0" "" "" "g.94078627T>C" "" "likely pathogenic" ""
"0000125040" "0" "50" "1" "94510168" "94510168" "subst" "0" "01695" "ABCA4_000662" "g.94510168C>G" "" "{PMID:Bauwens 2014:25346251}" "" "c.3050+1G>C" "" "Germline" "-" "" "0" "" "" "g.94044612C>G" "" "VUS" ""
"0000125041" "0" "50" "1" "94463617" "94463617" "subst" "0.0109114" "01695" "ABCA4_000013" "g.94463617C>T" "1235, 121366, 14, 0.01018" "{PMID:Bauwens 2014:25346251}" "" "c.6529G>A" "" "Germline" "-" "" "0" "" "" "g.93998061C>T" "" "VUS" ""
"0000125042" "0" "50" "1" "94528142" "94528142" "subst" "0.00153303" "01695" "ABCA4_000125" "g.94528142A>C" "163, 121098, 1, 0.001346" "{PMID:Bauwens 2014:25346251}" "" "c.1928T>G" "" "Germline" "-" "" "0" "" "" "g.94062586A>C" "" "VUS" ""
"0000125043" "0" "50" "1" "94520744" "94520744" "del" "0" "01695" "ABCA4_000720" "g.94520744del" "" "{PMID:Bauwens 2014:25346251}" "" "c.2510del" "" "Germline" "-" "" "0" "" "" "g.94055188del" "" "VUS" ""
"0000125044" "0" "50" "1" "94506853" "94506853" "subst" "0" "01695" "ABCA4_000618" "g.94506853A>T" "" "{PMID:Bauwens 2014:25346251}" "" "c.3434T>A" "" "Germline" "-" "" "0" "" "" "g.94041297A>T" "" "VUS" ""
"0000125045" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Bauwens 2014:25346251}" "" "c.5882G>A" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000125046" "0" "50" "1" "94473287" "94473287" "subst" "0.00293818" "01695" "ABCA4_000395" "g.94473287G>A" "352, 120336, 1, 0.002925" "{PMID:Bauwens 2014:25346251}" "" "c.5909C>T" "" "Germline" "-" "" "0" "" "" "g.94007731G>A" "" "VUS" ""
"0000125047" "0" "50" "1" "94508435" "94508436" "dup" "0" "01695" "ABCA4_000998" "g.94508435_94508436dup" "" "{PMID:Bauwens 2014:25346251}" "" "c.3210_3211dup" "" "Germline" "-" "" "0" "" "" "g.94042879_94042880dup" "" "VUS" ""
"0000125048" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Bauwens 2014:25346251}" "" "c.5882G>A" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000125049" "0" "50" "1" "94466556" "94466556" "subst" "4.06164E-6" "01695" "ABCA4_000831" "g.94466556G>C" "" "{PMID:Bauwens 2014:25346251}" "" "c.6386+2C>G" "" "Germline" "-" "" "0" "" "" "g.94001000G>C" "" "VUS" ""
"0000125050" "0" "50" "1" "94528774" "94528774" "subst" "0.00264827" "01695" "ABCA4_000298" "g.94528774C>T" "320, 121410, 2, 0.002636" "{PMID:Bauwens 2014:25346251}" "" "c.1654G>A" "" "Germline" "-" "" "0" "" "" "g.94063218C>T" "" "VUS" ""
"0000125051" "0" "50" "1" "94543437" "94543437" "subst" "1.62693E-5" "01695" "ABCA4_000115" "g.94543437G>T" "3, 121292, 0, 0.00002473" "{PMID:Bauwens 2014:25346251}" "" "c.1363C>A" "on its own not significantely found more often in published STGD compared to ExAC (p-value 0.12). However, together with other non-significant variants published related to STGD, they are significantly more often in STGD patients" "Germline" "-" "" "0" "" "" "g.94077881G>T" "" "VUS" ""
"0000125052" "0" "50" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "42, 120772, 0, 0.0003478" "{PMID:Bauwens 2014:25346251}" "" "c.5714+5G>A" "" "Germline" "-" "" "0" "" "" "g.94010795C>T" "" "VUS" ""
"0000125053" "1" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Lambertus 2015:25444351}" "" "c.656G>C, c.2588G>C," "" "Germline" "-" "rs76157638" "0" "" "" "g.94051698C>G" "" "likely pathogenic" ""
"0000125054" "1" "50" "1" "94564462" "94564462" "subst" "4.06775E-5" "01695" "ABCA4_000380" "g.94564462C>G" "" "{PMID:Lambertus 2015:25444351}" "" "c.656G>C, c.2588G>C," "" "Germline" "-" "" "0" "" "" "g.94098906C>G" "" "VUS" ""
"0000125055" "0" "90" "1" "94528248" "94528248" "subst" "1.22148E-5" "01695" "ABCA4_000279" "g.94528248A>T" "" "{PMID:Lambertus 2015:25444351}" "" "c.1822T>A" "" "Germline" "?" "" "0" "" "" "g.94062692A>T" "" "pathogenic" ""
"0000125056" "3" "50" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Lambertus 2015:25444351}" "" "c.5461-10T>C" "" "Germline" "?" "" "0" "" "" "g.94011395A>G" "" "VUS" ""
"0000125057" "3" "50" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Lambertus 2015:25444351}" "" "c.5461-10T>C" "" "Germline" "?" "" "0" "" "" "g.94011395A>G" "" "VUS" ""
"0000125058" "0" "50" "1" "94510272" "94510272" "subst" "4.06062E-6" "01695" "ABCA4_000070" "g.94510272T>C" "" "{PMID:Lambertus 2015:25444351}" "" "c.2947A>G" "" "Germline" "-" "" "0" "" "" "g.94044716T>C" "" "VUS" ""
"0000125059" "0" "70" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Lambertus 2015:25444351}" "" "c.5461-10T>C" "" "Germline" "?" "" "0" "" "" "g.94011395A>G" "" "likely pathogenic" ""
"0000125060" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "13, 121216, 0, 0.0001072" "{PMID:Lambertus 2015:25444351}" "" "c.768G>T" "" "Germline" "-" "" "0" "" "" "g.94098794C>A" "" "pathogenic" ""
"0000125061" "0" "50" "1" "94568570" "94568699" "del" "0" "01695" "ABCA4_000047" "g.(94564548_94568570)_(94568699_94574132)del" "" "{PMID:Lambertus 2015:25444351}" "" "c.443-?_570+?del" "" "Germline" "?" "" "0" "" "" "g.(94098992_94103014)_(94103143_94108576)del" "" "VUS" ""
"0000125062" "0" "50" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "13, 121216, 0, 0.0001072" "{PMID:Lambertus 2015:25444351}" "" "c.768G>T" "" "Germline" "-" "" "0" "" "" "g.94098794C>A" "" "VUS" ""
"0000125063" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Lambertus 2015:25444351}" "" "c.5461-10T>C" "" "Germline" "-" "" "0" "" "" "g.94011395A>G" "" "pathogenic" ""
"0000125064" "0" "50" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "42, 120772, 0, 0.0003478" "{PMID:Lambertus 2015:25444351}" "" "c.5714+5G>A" "" "Germline" "?" "" "0" "" "" "g.94010795C>T" "" "VUS" ""
"0000125065" "0" "90" "1" "94495078" "94495078" "subst" "8.37044E-6" "01695" "ABCA4_000042" "g.94495078A>G" "1, 70400, 0, 0.0000142" "{PMID:Lambertus 2015:25444351}" "" "c.4462T>C" "" "Germline" "-" "" "0" "" "" "g.94029522A>G" "" "pathogenic" ""
"0000125066" "0" "70" "1" "94508316" "94510301" "del" "0" "01695" "ABCA4_000041" "g.(94506959_94508316)_(94510301_94512474)del" "" "{PMID:Lambertus 2015:25444351}" "" "c.2919-?_3328+?del" "" "Germline" "?" "" "0" "" "" "g.(94041403_94042760)_(94044745_94046918)del" "" "likely pathogenic" ""
"0000125067" "0" "50" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "13, 121216, 0, 0.0001072" "{PMID:Lambertus 2015:25444351}" "" "c.768G>T" "" "Germline" "-" "" "0" "" "" "g.94098794C>A" "" "VUS" ""
"0000125068" "0" "50" "1" "94502701" "94502701" "subst" "0" "01695" "ABCA4_000594" "g.94502701C>G" "" "{PMID:Lambertus 2015:25444351}" "" "c.3813G>C" "" "Germline" "-" "" "0" "" "" "g.94037145C>G" "" "VUS" ""
"0000125069" "0" "50" "1" "94466460" "94466460" "subst" "0" "01695" "ABCA4_000824" "g.94466460A>T" "" "{PMID:Lambertus 2015:25444351}" "" "c.6411T>A" "" "Germline" "-" "" "0" "" "" "g.94000904A>T" "" "VUS" ""
"0000125070" "0" "50" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "13, 121216, 0, 0.0001072" "{PMID:Lambertus 2015:25444351}" "" "c.768G>T" "" "Germline" "-" "" "0" "" "" "g.94098794C>A" "" "VUS" ""
"0000125071" "0" "50" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Lambertus 2015:25444351}" "" "c.5461-10T>C" "" "Germline" "?" "" "0" "" "" "g.94011395A>G" "" "VUS" ""
"0000125072" "0" "70" "1" "94497588" "94497588" "subst" "4.153E-6" "01695" "ABCA4_000049" "g.94497588G>A" "1, 117696, 0, 0.000008496" "{PMID:Lambertus 2015:25444351}" "" "c.3874C>T" "" "Germline" "-" "" "0" "" "" "g.94032032G>A" "" "likely pathogenic" ""
"0000125073" "0" "90" "1" "94463568" "94463603" "del" "0" "01695" "ABCA4_000805" "g.94463568_94463603del" "" "{PMID:Lambertus 2015:25444351}" "" "c.6543_6578del" "" "Germline" "?" "" "0" "" "" "g.93998012_93998047del" "" "pathogenic" ""
"0000125074" "0" "50" "1" "94495000" "94495000" "subst" "0" "01695" "ABCA4_000164" "g.94495000C>A" "" "{PMID:Lambertus 2015:25444351}" "" "c.4539+1G>T" "" "Germline" "-" "" "0" "" "" "g.94029444C>A" "" "VUS" ""
"0000125075" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "13, 121216, 0, 0.0001072" "{PMID:Lambertus 2015:25444351}" "" "c.768G>T" "" "Germline" "?" "" "0" "" "" "g.94098794C>A" "" "pathogenic" ""
"0000125076" "0" "50" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "13, 121216, 0, 0.0001072" "{PMID:Lambertus 2015:25444351}" "" "c.768G>T" "" "Germline" "-" "" "0" "" "" "g.94098794C>A" "" "VUS" ""
"0000125077" "0" "50" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Lambertus 2015:25444351}" "" "c.5461-10T>C" "" "Germline" "?" "" "0" "" "" "g.94011395A>G" "" "VUS" ""
"0000125078" "0" "50" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "13, 121216, 0, 0.0001072" "{PMID:Lambertus 2015:25444351}" "" "c.768G>T" "" "Germline" "-" "" "0" "" "" "g.94098794C>A" "" "VUS" ""
"0000125079" "0" "50" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Lambertus 2015:25444351}" "" "c.5461-10T>C" "" "Germline" "?" "" "0" "" "" "g.94011395A>G" "" "VUS" ""
"0000125080" "0" "70" "1" "94485173" "94485174" "del" "0" "01695" "ABCA4_000468" "g.94485173_94485174del" "" "{PMID:Lambertus 2015:25444351}" "" "c.5161-5162delAC" "" "Germline" "-" "" "0" "" "" "g.94019617_94019618del" "" "likely pathogenic" ""
"0000125081" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Lambertus 2015:25444351}" "" "c.5882G>A" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "pathogenic" ""
"0000125082" "0" "90" "1" "94510272" "94510272" "subst" "4.06062E-6" "01695" "ABCA4_000070" "g.94510272T>C" "" "{PMID:Lambertus 2015:25444351}" "" "c.2947A>G" "" "Germline" "-" "" "0" "" "" "g.94044716T>C" "" "pathogenic" ""
"0000125083" "0" "70" "1" "94495034" "94495034" "subst" "5.28994E-6" "01695" "ABCA4_000539" "g.94495034G>T" "" "{PMID:Lambertus 2015:25444351}" "" "c.4506C>A" "" "Germline" "?" "" "0" "" "" "g.94029478G>T" "" "likely pathogenic" ""
"0000125084" "0" "50" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "13, 121216, 0, 0.0001072" "{PMID:Lambertus 2015:25444351}" "" "c.768G>T" "" "Germline" "-" "" "0" "" "" "g.94098794C>A" "" "VUS" ""
"0000125085" "0" "50" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Lambertus 2015:25444351}" "" "c.5461-10T>C" "" "Germline" "?" "" "0" "" "" "g.94011395A>G" "" "VUS" ""
"0000125086" "0" "30" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Lambertus 2015:25444351}" "" "c.5461-10T>C" "" "Germline" "-" "" "0" "" "" "g.94011395A>G" "" "likely benign" ""
"0000125087" "0" "50" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "227, 121250, 3, 0.001872" "{PMID:Lambertus 2015:25444351}" "" "c.6320G>A" "" "Germline" "?" "" "0" "" "" "g.94001068C>T" "" "VUS" ""
"0000125088" "0" "50" "1" "94577082" "94577082" "subst" "2.84315E-5" "01695" "ABCA4_000232" "g.94577082C>T" "3, 121252, 0, 0.00002474" "{PMID:Lambertus 2015:25444351}" "" "c.214G>A" "" "Germline" "-" "" "0" "" "" "g.94111526C>T" "" "VUS" ""
"0000125089" "0" "70" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Lambertus 2015:25444351}" "" "c.5461-10T>C" "" "Germline" "?" "" "0" "" "" "g.94011395A>G" "" "likely pathogenic" ""
"0000125090" "0" "90" "1" "94474381" "94474382" "dup" "0" "01695" "ABCA4_000409" "g.94474381_94474382dup" "" "{PMID:Lambertus 2015:25444351}" "" "c.5762_5763dup" "" "Germline" "-" "" "0" "" "" "g.94008825_94008826dup" "" "pathogenic" ""
"0000125091" "0" "90" "1" "94508316" "94510301" "del" "0" "01695" "ABCA4_000041" "g.(94506959_94508316)_(94510301_94512474)del" "" "{PMID:Lambertus 2015:25444351}" "" "c.2919-?_3328+?del" "" "Germline" "?" "" "0" "" "" "g.(94041403_94042760)_(94044745_94046918)del" "" "pathogenic" ""
"0000125092" "0" "50" "1" "94568686" "94568686" "subst" "0.00258122" "01695" "ABCA4_000212" "g.94568686C>T" "290, 120866, 1, 0.002399" "{PMID:Lambertus 2015:25444351}" "" "c.455G>A" "" "Germline" "-" "" "0" "" "" "g.94103130C>T" "" "VUS" ""
"0000125093" "0" "30" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Lambertus 2015:25444351}" "" "c.5461-10T>C" "" "Germline" "?" "" "0" "" "" "g.94011395A>G" "" "likely benign" ""
"0000125094" "0" "50" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Lambertus 2015:25444351}" "" "c.5461-10T>C" "" "Germline" "-" "" "0" "" "" "g.94011395A>G" "" "VUS" ""
"0000125095" "0" "50" "1" "94476495" "94476495" "subst" "0" "01695" "ABCA4_000424" "g.94476495A>G" "" "{PMID:Lambertus 2015:25444351}" "" "c.5585-10T>C" "" "Germline" "-" "" "0" "" "" "g.94010939A>G" "" "VUS" ""
"0000125096" "0" "70" "1" "94481294" "94481294" "subst" "0" "01695" "ABCA4_000110" "g.94481294C>T" "" "{PMID:Lambertus 2015:25444351}" "" "c.5312+1G>A" "" "Germline" "-" "" "0" "" "" "g.94015738C>T" "" "likely pathogenic" ""
"0000125097" "0" "90" "1" "94577010" "94577010" "subst" "1.22004E-5" "01695" "ABCA4_000224" "g.94577010T>C" "3, 119734, 0, 0.00002506" "{PMID:Lambertus 2015:25444351}" "" "c.286A>G" "" "Germline" "?" "" "0" "" "" "g.94111454T>C" "" "pathogenic" ""
"0000125098" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Lambertus 2015:25444351}" "" "c.2588G>C" "" "Germline" "-" "rs76157638" "0" "" "" "g.94051698C>G" "" "pathogenic" ""
"0000125099" "0" "90" "1" "94495000" "94495000" "subst" "0" "01695" "ABCA4_000164" "g.94495000C>A" "" "{PMID:Lambertus 2015:25444351}" "" "c.4539+1G>T" "" "Germline" "?" "" "0" "" "" "g.94029444C>A" "" "pathogenic" ""
"0000125100" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Lambertus 2015:25444351}" "" "c.2588G>C" "" "Germline" "-" "rs76157638" "0" "" "" "g.94051698C>G" "" "pathogenic" ""
"0000125101" "0" "90" "1" "94495000" "94495000" "subst" "0" "01695" "ABCA4_000164" "g.94495000C>A" "" "{PMID:Lambertus 2015:25444351}" "" "c.4539+1G>T" "" "Germline" "?" "" "0" "" "" "g.94029444C>A" "" "pathogenic" ""
"0000125102" "0" "70" "1" "94526296" "94526296" "subst" "1.64555E-5" "01695" "ABCA4_000768" "g.94526296G>A" "1, 96614, 0, 0.00001035" "{PMID:Lambertus 2015:25444351}" "" "c.1957C>T," "" "Germline" "-" "" "0" "" "" "g.94060740G>A" "" "likely pathogenic" ""
"0000125103" "0" "70" "1" "94506838" "94506838" "subst" "1.21827E-5" "01695" "ABCA4_000616" "g.94506838C>T" "3, 121394, 0, 0.00002471" "{PMID:Lambertus 2015:25444351}" "" "c.3449G>A" "On its own not significantely found more often in published STGD compared to ExAC (p-value 0.12). However, together with other non-significant variants published related to STGD, they are significantly more often in STGD patients (p-value <0.01)." "Germline" "?" "" "0" "" "" "g.94041282C>T" "" "likely pathogenic" ""
"0000125104" "0" "70" "1" "94476495" "94476495" "subst" "0" "01695" "ABCA4_000424" "g.94476495A>G" "" "{PMID:Lambertus 2015:25444351}" "" "c.5461-10T>C" "" "Germline" "-" "" "0" "" "" "g.94010939A>G" "" "likely pathogenic" ""
"0000125105" "0" "50" "1" "94476865" "94476865" "subst" "2.03107E-5" "01695" "ABCA4_000430" "g.94476865A>G" "3, 121186, 0, 0.00002476" "{PMID:Lambertus 2015:25444351}" "" "c.5537T>C" "" "Germline" "?" "" "0" "" "" "g.94011309A>G" "" "VUS" ""
"0000125106" "0" "50" "1" "94548948" "94548948" "subst" "0" "01695" "ABCA4_000360" "g.94548948C>T" "" "{PMID:Lambertus 2015:25444351}" "" "c.818G>A" "" "Germline" "-" "" "0" "" "" "g.94083392C>T" "" "VUS" ""
"0000125107" "1" "70" "1" "94496581" "94496581" "subst" "0" "01695" "ABCA4_000566" "g.94496581C>A" "" "{PMID:Lambertus 2015:25444351}" "" "c.872C>T;4224G>T" "" "Germline" "-" "" "0" "" "" "g.94031025C>A" "" "likely pathogenic" ""
"0000125108" "1" "50" "1" "94546261" "94546261" "subst" "0.000648567" "01695" "ABCA4_000353" "g.94546261G>A" "" "{PMID:Lambertus 2015:25444351}" "" "c.872C>T;4224G>T" "" "Germline" "-" "" "0" "" "" "g.94080705G>A" "" "VUS" ""
"0000125109" "0" "70" "1" "94510272" "94510272" "subst" "4.06062E-6" "01695" "ABCA4_000070" "g.94510272T>C" "" "{PMID:Lambertus 2015:25444351}" "" "c.2947AC" "" "likely pathogenic" ""
"0000125110" "0" "70" "1" "94528248" "94528248" "subst" "1.22148E-5" "01695" "ABCA4_000279" "g.94528248A>T" "1, 119894, 0, 0.000008341" "{PMID:Lambertus 2015:25444351}" "" "c.1822T>A" "" "Germline" "-" "" "0" "" "" "g.94062692A>T" "" "likely pathogenic" ""
"0000125111" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Lambertus 2015:25444351}" "" "c.5882G>A" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000125112" "3" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Lambertus 2015:25444351}" "" "c.5882G>A" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000125113" "0" "70" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "13, 121216, 0, 0.0001072" "{PMID:Lambertus 2015:25444351}" "" "c.768G>T" "" "Germline" "-" "" "0" "" "" "g.94098794C>A" "" "likely pathogenic" ""
"0000125114" "0" "50" "1" "94528248" "94528248" "subst" "1.22148E-5" "01695" "ABCA4_000279" "g.94528248A>T" "1, 119894, 0, 0.000008341" "{PMID:Lambertus 2015:25444351}" "" "c.1822T>A" "" "Germline" "?" "" "0" "" "" "g.94062692A>T" "" "VUS" ""
"0000125115" "0" "50" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "13, 121216, 0, 0.0001072" "{PMID:Lambertus 2015:25444351}" "" "c.768G>T" "" "Germline" "-" "" "0" "" "" "g.94098794C>A" "" "VUS" ""
"0000125116" "0" "50" "1" "94476495" "94476495" "subst" "0" "01695" "ABCA4_000424" "g.94476495A>G" "" "{PMID:Lambertus 2015:25444351}" "" "c.5461-10T>C" "" "Germline" "?" "" "0" "" "" "g.94010939A>G" "" "VUS" ""
"0000125117" "3" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Lambertus 2015:25444351}" "" "c.1622T>C;3113C>T" "" "Germline" "?" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000125118" "3" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Lambertus 2015:25444351}" "" "c.1622T>C;3113C>T" "" "Germline" "?" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic" ""
"0000125119" "0" "50" "1" "94506952" "94506952" "subst" "0" "01695" "ABCA4_000628" "g.94506952G>T" "" "{PMID:Lambertus 2015:25444351}" "" "c.3335C>A" "" "Germline" "-" "" "0" "" "" "g.94041396G>T" "" "VUS" ""
"0000125120" "0" "70" "1" "94476495" "94476495" "subst" "0" "01695" "ABCA4_000424" "g.94476495A>G" "" "{PMID:Lambertus 2015:25444351}" "" "c.5461-10T>C" "" "Germline" "?" "" "0" "" "" "g.94010939A>G" "" "likely pathogenic" ""
"0000125121" "0" "50" "1" "94528248" "94528248" "subst" "1.22148E-5" "01695" "ABCA4_000279" "g.94528248A>T" "1, 119894, 0, 0.000008341" "{PMID:Lambertus 2015:25444351}" "" "c.1822T>A" "" "Germline" "-" "" "0" "" "" "g.94062692A>T" "" "VUS" ""
"0000125122" "0" "70" "1" "94476495" "94476495" "subst" "0" "01695" "ABCA4_000424" "g.94476495A>G" "" "{PMID:Lambertus 2015:25444351}" "" "c.5461-10T>C" "" "Germline" "?" "" "0" "" "" "g.94010939A>G" "" "likely pathogenic" ""
"0000125123" "0" "70" "1" "94578567" "94578567" "subst" "4.06204E-6" "01695" "ABCA4_000247" "g.94578567C>T" "" "{PMID:Lambertus 2015:25444351}" "" "c.122G>A" "" "Germline" "-" "" "0" "" "" "g.94113011C>T" "" "likely pathogenic" ""
"0000125124" "0" "90" "1" "94577010" "94577010" "subst" "1.22004E-5" "01695" "ABCA4_000224" "g.94577010T>C" "3, 119734, 0, 0.00002506" "{PMID:Lambertus 2015:25444351}" "" "c.286A>G" "" "Germline" "?" "" "0" "" "" "g.94111454T>C" "" "pathogenic" ""
"0000125125" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Lambertus 2015:25444351}" "" "c.5882G>A" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000125126" "3" "70" "1" "94577010" "94577010" "subst" "1.22004E-5" "01695" "ABCA4_000224" "g.94577010T>C" "3, 119734, 0, 0.00002506" "{PMID:Lambertus 2015:25444351}" "" "c.286A>G" "" "Germline" "?" "" "0" "" "" "g.94111454T>C" "" "likely pathogenic" ""
"0000125127" "0" "50" "1" "94487401" "94487401" "subst" "4.06085E-6" "01695" "ABCA4_000995" "g.94487401C>T" "" "{PMID:Lambertus 2015:25444351}" "" "c.4773+1G>A" "" "Germline" "-" "" "0" "" "" "g.94021845C>T" "" "VUS" ""
"0000125128" "0" "90" "1" "94476495" "94476495" "subst" "0" "01695" "ABCA4_000424" "g.94476495A>G" "" "{PMID:Lambertus 2015:25444351}" "" "c.5461-10T>C" "" "Germline" "?" "" "0" "" "" "g.94010939A>G" "" "pathogenic" ""
"0000125129" "0" "70" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "13, 121216, 0, 0.0001072" "{PMID:Lambertus 2015:25444351}" "" "c.768G>T" "" "Germline" "-" "" "0" "" "" "g.94098794C>A" "" "likely pathogenic" ""
"0000125130" "0" "50" "1" "94485221" "94485221" "subst" "0" "01695" "ABCA4_000471" "g.94485221G>A" "4, 103872, 0, 0.00003851" "{PMID:Lambertus 2015:25444351}" "" "c.5113C>T" "" "Germline" "?" "" "0" "" "" "g.94019665G>A" "" "VUS" ""
"0000125131" "0" "70" "1" "94466561" "94466561" "subst" "8.12288E-6" "01695" "ABCA4_000834" "g.94466561T>C" "1, 121390, 0, 0.000008238" "{PMID:Zaneveld 2015:25474345}" "" "c.6383 A>G" "" "Germline" "-" "" "0" "" "" "g.94001005T>C" "" "likely pathogenic" ""
"0000125132" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Lambertus 2015:25444351}" "" "c.785 G>A" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000125133" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "26, 121404, 0, 0.0002142" "{PMID:Zaneveld 2015:25474345}" "" "c.6079 C>T" "" "Germline" "-" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic" ""
"0000125134" "0" "70" "1" "94520793" "94520793" "subst" "8.13292E-6" "01695" "ABCA4_000723" "g.94520793A>T" "1, 121346, 0, 0.000008241" "{PMID:Zaneveld 2015:25474345}" "" "c.2461 T>A" "" "Germline" "?" "" "0" "" "" "g.94055237A>T" "" "likely pathogenic" ""
"0000125135" "0" "90" "1" "94496080" "94496080" "subst" "0.000982813" "01695" "ABCA4_000558" "g.94496080A>G" "143, 121354, 1, 0.001178" "{PMID:Zaneveld 2015:25474345}" "" "c.4256 T>C" "" "Germline" "-" "" "0" "" "" "g.94030524A>G" "" "pathogenic" ""
"0000125136" "0" "30" "1" "94526258" "94526258" "subst" "4.07183E-6" "01695" "ABCA4_000762" "g.94526258G>T" "1, 117152, 0, 0.000008536" "{PMID:Zaneveld 2015:25474345}" "" "c.1995 C>A" "" "Germline" "?" "" "0" "" "" "g.94060702G>T" "" "likely benign" ""
"0000125137" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "24, 119274, 0, 0.0002012" "{PMID:Zaneveld 2015:25474345}" "" "c.4139 C>T" "" "Germline" "-" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic" ""
"0000125138" "0" "70" "1" "94577010" "94577010" "subst" "4.06679E-6" "01695" "ABCA4_000225" "g.94577010T>G" "" "{PMID:Zaneveld 2015:25474345}" "" "c.286 A>C" "" "Germline" "?" "" "0" "" "" "g.94111454T>G" "" "likely pathogenic" ""
"0000125139" "0" "70" "1" "94471049" "94471049" "subst" "0" "01695" "ABCA4_000795" "g.94471049T>C" "" "{PMID:Zaneveld 2015:25474345}" "" "c.6095 A>G" "" "Germline" "-" "" "0" "" "" "g.94005493T>C" "" "likely pathogenic" ""
"0000125140" "0" "70" "1" "94476378" "94476378" "subst" "0.000499679" "01695" "ABCA4_000412" "g.94476378G>A" "62, 121082, 0, 0.000512" "{PMID:Zaneveld 2015:25474345}" "" "c.5692 C>T" "" "Germline" "?" "" "0" "" "" "g.94010822G>A" "" "likely pathogenic" ""
"0000125141" "0" "90" "1" "94577129" "94577129" "subst" "4.06154E-6" "01695" "ABCA4_000238" "g.94577129A>G" "1, 121230, 0, 0.000008249" "{PMID:Zaneveld 2015:25474345}" "" "c.167 T>C" "" "Germline" "-" "" "0" "" "" "g.94111573A>G" "" "pathogenic" ""
"0000125142" "0" "70" "1" "94484001" "94484001" "subst" "0" "01695" "ABCA4_000016" "g.94484001C>T" "" "{PMID:Zaneveld 2015:25474345}" "" "c.5196+1137 G>A" "" "Germline" "?" "" "0" "" "" "g.94018445C>T" "" "likely pathogenic" ""
"0000125143" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Zaneveld 2015:25474345}" "" "c.5882 G>A" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000125144" "0" "70" "1" "94509017" "94509017" "subst" "0" "01695" "ABCA4_000658" "g.94509017T>C" "" "{PMID:Zaneveld 2015:25474345}" "" "c.3065 A>G" "" "Germline" "?" "" "0" "" "" "g.94043461T>C" "" "likely pathogenic" ""
"0000125145" "0" "70" "1" "94517233" "94517233" "subst" "4.06161E-6" "01695" "ABCA4_000706" "g.94517233G>A" "1, 120440, 0, 0.000008303" "{PMID:Zaneveld 2015:25474345}" "" "c.2609 C>T" "" "Germline" "-" "" "0" "" "" "g.94051677G>A" "" "likely pathogenic" ""
"0000125146" "0" "70" "1" "94526219" "94526219" "subst" "4.06673E-6" "01695" "ABCA4_000759" "g.94526219C>A" "" "{PMID:Zaneveld 2015:25474345}" "" "c.2034 G>T" "" "Germline" "?" "" "0" "" "" "g.94060663C>A" "" "likely pathogenic" ""
"0000125147" "0" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "173, 121304, 0, 0.001426" "{PMID:Zaneveld 2015:25474345}" "" "c.3113 C>T" "" "Germline" "-" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic" ""
"0000125148" "0" "30" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "15, 121412, 0, 0.0001235" "{PMID:Zaneveld 2015:25474345}" "" "c.1622 T>C" "" "Germline" "?" "" "0" "" "" "g.94063250A>G" "" "likely benign" ""
"0000125149" "1" "70" "1" "94502756" "94502756" "subst" "0.000422575" "01695" "ABCA4_000032" "g.94502756G>A" "" "{PMID:Zaneveld 2015:25474345}" "" "c.3758 C>T; c.5882 G>A" "" "Germline" "-" "" "0" "" "" "g.94037200G>A" "" "likely pathogenic" ""
"0000125150" "1" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Zaneveld 2015:25474345}" "" "c.3758 C>T; c.5882 G>A" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000125151" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "24, 119274, 0, 0.0002012" "{PMID:Zaneveld 2015:25474345}" "" "c.4139 C>T" "" "Germline" "?" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic" ""
"0000125152" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Zaneveld 2015:25474345}" "" "c.5882 G>A" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000125153" "0" "70" "1" "94502756" "94502756" "subst" "0.000422575" "01695" "ABCA4_000032" "g.94502756G>A" "37, 121234, 1, 0.0003052" "{PMID:Zaneveld 2015:25474345}" "" "c.3758 C>T" "" "Germline" "?" "" "0" "" "" "g.94037200G>A" "" "likely pathogenic" ""
"0000125154" "0" "70" "1" "94476378" "94476378" "subst" "0.000499679" "01695" "ABCA4_000412" "g.94476378G>A" "62, 121082, 0, 0.000512" "{PMID:Zaneveld 2015:25474345}" "" "c.5692 C>T" "" "Germline" "-" "" "0" "" "" "g.94010822G>A" "" "likely pathogenic" ""
"0000125155" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Zaneveld 2015:25474345}" "" "c.5882 G>A" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000125156" "0" "90" "1" "94528236" "94528236" "subst" "0" "01695" "ABCA4_000276" "g.94528236G>A" "" "{PMID:Zaneveld 2015:25474345}" "" "c.1834 C>T" "" "Germline" "-" "" "0" "" "" "g.94062680G>A" "" "pathogenic" ""
"0000125157" "0" "90" "1" "94520665" "94520665" "subst" "0" "01695" "ABCA4_000707" "g.94520665A>G" "" "{PMID:Zaneveld 2015:25474345}" "" "c.2587+2T>C" "" "Germline" "?" "" "0" "" "" "g.94055109A>G" "" "pathogenic" ""
"0000125158" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Zaneveld 2015:25474345}" "" "c.5882 G>A" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000125159" "0" "70" "1" "94476890" "94476890" "subst" "4.06227E-6" "01695" "ABCA4_000434" "g.94476890G>C" "" "{PMID:Zaneveld 2015:25474345}" "" "c.5512 C>G" "" "Germline" "?" "" "0" "" "" "g.94011334G>C" "" "likely pathogenic" ""
"0000125160" "3" "70" "1" "94466482" "94466482" "subst" "0" "01695" "ABCA4_000828" "g.94466482A>G" "" "{PMID:Zaneveld 2015:25474345}" "" "c.6389 T>C" "" "Germline" "?" "" "0" "" "" "g.94000926A>G" "" "likely pathogenic" ""
"0000125161" "3" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "24, 119274, 0, 0.0002012" "{PMID:Zaneveld 2015:25474345}" "" "c.4139 C>T" "" "Germline" "?" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic" ""
"0000125162" "0" "70" "1" "94526125" "94526125" "subst" "0" "01695" "ABCA4_000751" "g.94526125T>C" "" "{PMID:Zaneveld 2015:25474345}" "" "c.2128 A>G" "" "Germline" "-" "" "0" "" "" "g.94060569T>C" "" "likely pathogenic" ""
"0000125163" "0" "70" "1" "94528251" "94528251" "subst" "0" "01695" "ABCA4_000077" "g.94528251C>G" "" "{PMID:Zaneveld 2015:25474345}" "" "c.1819 G>C" "" "Germline" "?" "" "0" "" "" "g.94062695C>G" "" "likely pathogenic" ""
"0000125164" "0" "70" "1" "94466657" "94466657" "subst" "0" "01695" "ABCA4_000843" "g.94466657T>C" "" "{PMID:Zaneveld 2015:25474345}" "" "c.6287 A>G" "" "Germline" "-" "" "0" "" "" "g.94001101T>C" "" "likely pathogenic" ""
"0000125165" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Zaneveld 2015:25474345}" "" "c.5882 G>A" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000125166" "0" "70" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "14, 120056, 0, 0.0001166" "{PMID:Zaneveld 2015:25474345}" "" "c.634 C>T" "" "Germline" "-" "" "0" "" "" "g.94098928G>A" "" "likely pathogenic" ""
"0000125167" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Zaneveld 2015:25474345}" "" "c.1622 T>C; c.3113 C>T" "" "Germline" "?" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000125168" "1" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Zaneveld 2015:25474345}" "" "c.1622 T>C; c.3113 C>T" "" "Germline" "?" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic" ""
"0000125169" "0" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "173, 121304, 0, 0.001426" "{PMID:Zaneveld 2015:25474345}" "" "c.3113 C>T" "" "Germline" "-" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic" ""
"0000125170" "0" "30" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "15, 121412, 0, 0.0001235" "{PMID:Zaneveld 2015:25474345}" "" "c.1622 T>C" "" "Germline" "?" "" "0" "" "" "g.94063250A>G" "" "likely benign" ""
"0000125171" "3" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "24, 119274, 0, 0.0002012" "{PMID:Zaneveld 2015:25474345}" "" "c.4139 C>T" "" "Germline" "?" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic" ""
"0000125172" "3" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "24, 119274, 0, 0.0002012" "{PMID:Zaneveld 2015:25474345}" "" "c.4139 C>T" "" "Germline" "?" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic" ""
"0000125173" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Zaneveld 2015:25474345}" "" "c.5882 G>A" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000125174" "0" "70" "1" "94486895" "94486895" "subst" "3.24923E-5" "01695" "ABCA4_000484" "g.94486895C>T" "7, 121398, 0, 0.00005766" "{PMID:Zaneveld 2015:25474345}" "" "c.4919 G>A" "" "Germline" "?" "" "0" "" "" "g.94021339C>T" "" "likely pathogenic" ""
"0000125175" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Zaneveld 2015:25474345}" "" "c.5882 G>A" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000125176" "0" "70" "1" "94486895" "94486895" "subst" "3.24923E-5" "01695" "ABCA4_000484" "g.94486895C>T" "7, 121398, 0, 0.00005766" "{PMID:Zaneveld 2015:25474345}" "" "c.4919 G>A" "" "Germline" "?" "" "0" "" "" "g.94021339C>T" "" "likely pathogenic" ""
"0000125177" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "24, 119274, 0, 0.0002012" "{PMID:Zaneveld 2015:25474345}" "" "c.4139 C>T" "" "Germline" "-" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic" ""
"0000125178" "0" "70" "1" "94490550" "94490550" "subst" "0.000105588" "01695" "ABCA4_000523" "g.94490550C>T" "11, 121406, 0, 0.00009061" "{PMID:Zaneveld 2015:25474345}" "" "c.4594 G>A" "" "Germline" "?" "" "0" "" "" "g.94024994C>T" "" "likely pathogenic" ""
"0000125179" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "24, 119274, 0, 0.0002012" "{PMID:Zaneveld 2015:25474345}" "" "c.4139 C>T" "" "Germline" "-" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic" ""
"0000125180" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "26, 121404, 0, 0.0002142" "{PMID:Zaneveld 2015:25474345}" "" "c.6079 C>T" "" "Germline" "?" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic" ""
"0000125181" "3" "70" "1" "94474320" "94474320" "subst" "4.06065E-6" "01695" "ABCA4_000407" "g.94474320T>G" "" "{PMID:Zaneveld 2015:25474345}" "" "c.5822 A>C" "" "Germline" "?" "" "0" "" "" "g.94008764T>G" "" "likely pathogenic" ""
"0000125182" "0" "70" "1" "94466657" "94466657" "subst" "0" "01695" "ABCA4_000843" "g.94466657T>C" "" "{PMID:Zaneveld 2015:25474345}" "" "c.6287 A>G" "" "Germline" "-" "" "0" "" "" "g.94001101T>C" "" "likely pathogenic" ""
"0000125183" "1" "70" "1" "94502756" "94502756" "subst" "0.000422575" "01695" "ABCA4_000032" "g.94502756G>A" "" "{PMID:Zaneveld 2015:25474345}" "" "c.3758 C>T; c.5882 G>A" "" "Germline" "?" "" "0" "" "" "g.94037200G>A" "" "likely pathogenic" ""
"0000125184" "1" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Zaneveld 2015:25474345}" "" "c.3758 C>T; c.5882 G>A" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000125185" "0" "90" "1" "94502906" "94502906" "subst" "0.000314086" "01695" "ABCA4_000605" "g.94502906C>T" "41, 120342, 0, 0.0003407" "{PMID:Zaneveld 2015:25474345}" "" "c.3608 G>A" "" "Germline" "-" "" "0" "" "" "g.94037350C>T" "" "pathogenic" ""
"0000125186" "0" "90" "1" "94495001" "94495002" "ins" "0" "01695" "ABCA4_000531" "g.94495001_94495002insG" "" "{PMID:Zaneveld 2015:25474345}" "" "c.4538_4539insC" "" "Germline" "?" "" "0" "" "" "g.94029445_94029446insG" "" "pathogenic" ""
"0000125187" "0" "90" "1" "94467413" "94467413" "subst" "8.12612E-6" "01695" "ABCA4_000131" "g.94467413C>G" "1, 120956, 0, 0.000008267" "{PMID:Zaneveld 2015:25474345}" "" "c.6282+1 G>C" "" "Germline" "-" "" "0" "" "" "g.94001857C>G" "" "pathogenic" ""
"0000125188" "0" "90" "1" "94546098" "94546098" "subst" "0" "01695" "ABCA4_000338" "g.94546098A>C" "" "{PMID:Zaneveld 2015:25474345}" "" "c.1035 T>G" "" "Germline" "?" "" "0" "" "" "g.94080542A>C" "" "pathogenic" ""
"0000125189" "3" "70" "1" "94528251" "94528251" "subst" "2.84824E-5" "01695" "ABCA4_000281" "g.94528251C>T" "3, 119908, 0, 0.00002502" "{PMID:Zaneveld 2015:25474345}" "" "c.1819 G>A" "" "Germline" "?" "" "0" "" "" "g.94062695C>T" "" "likely pathogenic" ""
"0000125190" "0" "90" "1" "94461664" "94461664" "subst" "4.06841E-6" "01695" "ABCA4_000860" "g.94461664C>T" "" "{PMID:Zaneveld 2015:25474345}" "" "c.6816+1 G>A" "" "Germline" "-" "" "0" "" "" "g.93996108C>T" "" "pathogenic" ""
"0000125191" "0" "90" "1" "94485137" "94485137" "subst" "0" "01695" "ABCA4_000464" "g.94485137C>T" "3, 49858, 0, 0.00006017" "{PMID:Zaneveld 2015:25474345}" "" "c.5196+1 G>A" "" "Germline" "?" "" "0" "" "" "g.94019581C>T" "" "pathogenic" ""
"0000125192" "0" "70" "1" "94471046" "94471046" "subst" "0" "01695" "ABCA4_000794" "g.94471046A>G" "" "{PMID:Zaneveld 2015:25474345}" "" "c.6098 T>C" "" "Germline" "-" "" "0" "" "" "g.94005490A>G" "" "likely pathogenic" ""
"0000125193" "0" "70" "1" "94578619" "94578619" "subst" "2.85088E-5" "01695" "ABCA4_000253" "g.94578619G>A" "5, 120400, 0, 0.00004153" "{PMID:Zaneveld 2015:25474345}" "" "c.70 C>T" "" "Germline" "?" "" "0" "" "" "g.94113063G>A" "" "likely pathogenic" ""
"0000125194" "0" "90" "1" "94471025" "94471025" "subst" "0.00031698" "01695" "ABCA4_000096" "g.94471025C>T" "41, 121396, 0, 0.0003377" "{PMID:Zaneveld 2015:25474345}" "" "c.6119 G>A" "On its own not significantely found more often in published STGD compared to ExAC (p-value 0.21). However, together with other non-significant variants published related to STGD, they are significantly more often in STGD patients (p-value <0.01)." "Germline" "-" "" "0" "" "" "g.94005469C>T" "" "pathogenic" ""
"0000125195" "0" "70" "1" "94474366" "94474366" "subst" "0" "01695" "ABCA4_000408" "g.94474366G>A" "" "{PMID:Zaneveld 2015:25474345}" "" "c.5776 C>T" "" "Germline" "?" "" "0" "" "" "g.94008810G>A" "" "likely pathogenic" ""
"0000125196" "0" "70" "1" "94463583" "94463583" "subst" "8.12183E-6" "01695" "ABCA4_000806" "g.94463583A>G" "2, 121380, 0, 0.00001648" "{PMID:Zaneveld 2015:25474345}" "" "c.6563 T>C" "" "Germline" "-" "" "0" "" "" "g.93998027A>G" "" "likely pathogenic" ""
"0000125197" "0" "70" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "6, 119038, 0, 0.0000504" "{PMID:Zaneveld 2015:25474345}" "" "c.1804 C>T" "" "Germline" "?" "" "0" "" "" "g.94062710G>A" "" "likely pathogenic" ""
"0000125198" "0" "90" "1" "94497591" "94497591" "subst" "0" "01695" "ABCA4_000587" "g.94497591G>A" "1, 117564, 0, 0.000008506" "{PMID:Zaneveld 2015:25474345}" "" "c.3871 C>T" "" "Germline" "-" "" "0" "" "" "g.94032035G>A" "" "pathogenic" ""
"0000125199" "0" "90" "1" "94467500" "94467500" "del" "0" "01695" "ABCA4_000784" "g.94467500del" "" "{PMID:Zaneveld 2015:25474345}" "" "c.6196delT" "" "Germline" "?" "" "0" "" "" "g.94001944del" "" "pathogenic" ""
"0000125200" "0" "70" "1" "94510271" "94510271" "subst" "0" "01695" "ABCA4_000670" "g.94510271G>A" "" "{PMID:Zaneveld 2015:25474345}" "" "c.2948 C>T" "" "Germline" "-" "" "0" "" "" "g.94044715G>A" "" "likely pathogenic" ""
"0000125201" "0" "70" "1" "94506923" "94506923" "subst" "2.43657E-5" "01695" "ABCA4_000012" "g.94506923C>T" "3, 121394, 0, 0.00002471" "{PMID:Zaneveld 2015:25474345}" "" "c.3364 G>A" "" "Germline" "?" "" "0" "" "" "g.94041367C>T" "" "likely pathogenic" ""
"0000125202" "0" "90" "1" "94466655" "94466655" "subst" "0" "01695" "ABCA4_000842" "g.94466655G>A" "" "{PMID:Zaneveld 2015:25474345}" "" "c.6289 C>T" "" "Germline" "-" "" "0" "" "" "g.94001099G>A" "" "pathogenic" ""
"0000125203" "0" "70" "1" "94490538" "94490539" "ins" "0" "01695" "ABCA4_000521" "g.94490538_94490539insA" "" "{PMID:Zaneveld 2015:25474345}" "" "c.4605_4606insT" "" "Germline" "?" "" "0" "" "" "g.94024982_94024983insA" "" "likely pathogenic" ""
"0000125204" "0" "90" "1" "94463583" "94463583" "subst" "8.12183E-6" "01695" "ABCA4_000806" "g.94463583A>G" "2, 121380, 0, 0.00001648" "{PMID:Zaneveld 2015:25474345}" "" "c.6563 T>C" "" "Germline" "-" "" "0" "" "" "g.93998027A>G" "" "pathogenic" ""
"0000125205" "0" "70" "1" "94546248" "94546248" "del" "2.03666E-5" "01695" "ABCA4_000352" "g.94546248del" "" "{PMID:Zaneveld 2015:25474345}" "" "c.885delC" "" "Germline" "?" "" "0" "" "" "g.94080692del" "" "likely pathogenic" ""
"0000125206" "0" "70" "1" "94526295" "94526295" "subst" "3.69731E-5" "01695" "ABCA4_000114" "g.94526295C>T" "1, 98698, 0, 0.00001013" "{PMID:Zaneveld 2015:25474345}" "" "c.1958 G>A" "" "Germline" "-" "" "0" "" "" "g.94060739C>T" "" "likely pathogenic" ""
"0000125207" "0" "70" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "6, 119038, 0, 0.0000504" "{PMID:Zaneveld 2015:25474345}" "" "c.1804 C>T" "" "Germline" "?" "" "0" "" "" "g.94062710G>A" "" "likely pathogenic" ""
"0000125208" "3" "70" "1" "94520817" "94520817" "subst" "0" "01695" "ABCA4_000726" "g.94520817C>T" "" "{PMID:Zaneveld 2015:25474345}" "" "c.2437 G>A" "" "Germline" "?" "" "0" "" "" "g.94055261C>T" "" "likely pathogenic" ""
"0000125209" "0" "90" "1" "94466657" "94466657" "subst" "0" "01695" "ABCA4_000844" "g.94466657T>A" "" "{PMID:Zaneveld 2015:25474345}" "" "c.6287 A>T" "" "Germline" "-" "" "0" "" "" "g.94001101T>A" "" "pathogenic" ""
"0000125210" "0" "70" "1" "94502702" "94502702" "del" "0" "01695" "ABCA4_000596" "g.94502702del" "" "{PMID:Zaneveld 2015:25474345}" "" "c.3812delA" "" "Germline" "?" "" "0" "" "" "g.94037146del" "" "likely pathogenic" ""
"0000125211" "0" "90" "1" "94520830" "94520830" "subst" "0" "01695" "ABCA4_000727" "g.94520830G>C" "" "{PMID:Zaneveld 2015:25474345}" "" "c.2424 C>G (c.5593 C>T)" "" "Germline" "-" "" "0" "" "" "g.94055274G>C" "" "pathogenic" ""
"0000125212" "0" "90" "1" "94481304" "94481305" "del" "0" "01695" "ABCA4_000451" "g.94481304_94481305del" "" "{PMID:Zaneveld 2015:25474345}" "" "c.5302-5303del" "" "Germline" "?" "" "0" "" "" "g.94015748_94015749del" "" "pathogenic" ""
"0000125213" "3" "90" "1" "94528868" "94528868" "del" "0" "01695" "ABCA4_000304" "g.94528868del" "" "{PMID:Zaneveld 2015:25474345}" "" "c.1561delG" "" "Germline" "?" "" "0" "" "" "g.94063312del" "" "pathogenic" ""
"0000125214" "0" "70" "1" "94520830" "94520830" "subst" "0" "01695" "ABCA4_000727" "g.94520830G>C" "" "{PMID:Zaneveld 2015:25474345}" "" "c.2424 C>G" "" "Germline" "-" "" "0" "" "" "g.94055274G>C" "" "likely pathogenic" ""
"0000125215" "0" "90" "1" "94509011" "94509011" "subst" "0" "01695" "ABCA4_000657" "g.94509011A>G" "" "{PMID:Zaneveld 2015:25474345}" "" "c.3071 T>C" "" "Germline" "?" "" "0" "" "" "g.94043455A>G" "" "pathogenic" ""
"0000125216" "0" "70" "1" "94466482" "94466482" "subst" "0" "01695" "ABCA4_000829" "g.94466482A>T" "" "{PMID:Zaneveld 2015:25474345}" "" "c.6389 T>A" "" "Germline" "-" "" "0" "" "" "g.94000926A>T" "" "likely pathogenic" ""
"0000125217" "0" "70" "1" "94508451" "94508451" "subst" "0" "01695" "ABCA4_000648" "g.94508451C>A" "" "{PMID:Zaneveld 2015:25474345}" "" "c.3194 G>T" "" "Germline" "?" "" "0" "" "" "g.94042895C>A" "" "likely pathogenic" ""
"0000125218" "0" "70" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "6, 119038, 0, 0.0000504" "{PMID:Zaneveld 2015:25474345}" "" "c.1804 C>T" "" "Germline" "-" "" "0" "" "" "g.94062710G>A" "" "likely pathogenic" ""
"0000125219" "0" "70" "1" "94467506" "94467506" "subst" "3.24913E-5" "01695" "ABCA4_000785" "g.94467506C>T" "4, 121382, 0, 0.00003295" "{PMID:Zaneveld 2015:25474345}" "" "c.6190 G>A" "On its own not significantely found more often in published STGD compared to ExAC (p-value 0.20). However, together with other non-significant variants published related to STGD, they are significantly more often in STGD patients (p-value <0.01)." "Germline" "?" "" "0" "" "" "g.94001950C>T" "" "likely pathogenic" ""
"0000125220" "0" "90" "1" "94546150" "94546150" "subst" "4.06828E-6" "01695" "ABCA4_000346" "g.94546150T>A" "" "{PMID:Zaneveld 2015:25474345}" "" "c.983 A>T" "" "Germline" "-" "" "0" "" "" "g.94080594T>A" "" "pathogenic" ""
"0000125221" "0" "70" "1" "94568625" "94568625" "del" "0" "01695" "ABCA4_000206" "g.94568625del" "" "{PMID:Zaneveld 2015:25474345}" "" "c.517delC" "" "Germline" "?" "" "0" "" "" "g.94103069del" "" "likely pathogenic" ""
"0000125222" "0" "70" "1" "94496571" "94496571" "subst" "4.06174E-6" "01695" "ABCA4_000111" "g.94496571G>A" "" "{PMID:Kousal 2014:25640233}" "" "c.4234C>T" "" "Germline" "-" "" "0" "" "" "g.94031015G>A" "" "likely pathogenic" ""
"0000125223" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Kousal 2014:25640233}" "" "c.5882G>A" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "pathogenic" ""
"0000125224" "0" "50" "1" "94526265" "94526265" "subst" "0" "01695" "ABCA4_000143" "g.94526265C>T" "" "{PMID:Kousal 2014:25640233}" "" "c.1988G>A" "" "Germline" "-" "" "0" "" "" "g.94060709C>T" "" "VUS" ""
"0000125225" "21" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "30, 121388, 0, 0.0002471" "{PMID:Fernandez-San Jose 2015:25698705}" "" "c.3386G>T" "" "Germline" "-" "" "0" "" "" "g.94041345C>A" "" "pathogenic" ""
"0000125226" "11" "70" "1" "94467548" "94467548" "subst" "0.00295661" "01695" "ABCA4_000788" "g.94467548C>G" "334, 121350, 0, 0.002752" "{PMID:Fernandez-San Jose 2015:25698705}" "" "c.6148G>C" "" "Germline" "yes" "" "0" "" "" "g.94001992C>G" "" "likely pathogenic" ""
"0000125227" "21" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "30, 121388, 0, 0.0002471" "{PMID:Fernandez-San Jose 2015:25698705}" "" "c.3386G>T" "" "Germline" "-" "" "0" "" "" "g.94041345C>A" "" "pathogenic" ""
"0000125228" "11" "70" "1" "94467548" "94467548" "subst" "0.00295661" "01695" "ABCA4_000788" "g.94467548C>G" "334, 121350, 0, 0.002752" "{PMID:Fernandez-San Jose 2015:25698705}" "" "c.6148G>C" "" "Germline" "yes" "" "0" "" "" "g.94001992C>G" "" "likely pathogenic" ""
"0000125229" "10" "50" "1" "94467548" "94467548" "subst" "0.00295661" "01695" "ABCA4_000788" "g.94467548C>G" "334, 121350, 0, 0.002752" "{PMID:Fernandez-San Jose 2015:25698705}" "" "c.6148G>C" "" "Germline" "-" "" "0" "" "" "g.94001992C>G" "" "VUS" ""
"0000125230" "0" "70" "1" "94486896" "94486896" "subst" "3.65562E-5" "01695" "ABCA4_000085" "g.94486896G>A" "1, 121394, 0, 0.000008238" "{PMID:Battu 2015:25922843}" "" "Arg1640Trp" "" "Germline" "-" "" "0" "" "" "g.94021340G>A" "" "likely pathogenic" ""
"0000125231" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Battu 2015:25922843}" "" "Gly1961Glu" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000125232" "0" "70" "1" "94568570" "94568570" "subst" "0" "01695" "ABCA4_000200" "g.94568570C>T" "" "{PMID:Battu 2015:25922843}" "" "c.570+1G>A" "" "Germline" "-" "" "0" "" "" "g.94103014C>T" "" "likely pathogenic" ""
"0000125233" "0" "90" "1" "94568627" "94568627" "subst" "0.000422314" "01695" "ABCA4_000207" "g.94568627C>T" "56, 121358, 0, 0.0004614" "{PMID:Battu 2015:25922843}" "" "Gly172Ser" "On its own not significantely found more often in published STGD compared to ExAC (p-value 0.55). However, together with other non-significant variants published related to STGD, they are significantly more often in STGD patients (p-value <0.01)." "Germline" "?" "" "0" "" "" "g.94103071C>T" "" "pathogenic" ""
"0000125234" "3" "70" "1" "94512481" "94512481" "subst" "4.06524E-6" "01695" "ABCA4_000679" "g.94512481G>T" "" "{PMID:Battu 2015:25922843}" "" "Thr971Asn" "" "Germline" "?" "" "0" "" "" "g.94046925G>T" "" "likely pathogenic" ""
"0000125235" "21" "70" "1" "94517226" "94517226" "subst" "0" "01695" "ABCA4_000705" "g.94517226G>C" "" "{PMID:Battu 2015:25922843}" "" "Tyr872X" "" "Germline" "-" "" "0" "" "" "g.94051670G>C" "" "likely pathogenic" ""
"0000125236" "10" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Battu 2015:25922843}" "" "Gly1961Glu" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "pathogenic" ""
"0000125237" "3" "90" "1" "94466426" "94466426" "subst" "1.62433E-5" "01695" "ABCA4_000124" "g.94466426G>A" "2, 121400, 0, 0.00001647" "{PMID:Battu 2015:25922843}" "" "Arg2149X" "" "Germline" "?" "" "0" "" "" "g.94000870G>A" "" "pathogenic" ""
"0000125238" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Duncker 2015:26024099}" "" "p.G1961E" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000125239" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Duncker 2015:26024099}" "" "p.[L541P;A1038V]" "" "Germline" "?" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000125240" "1" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Duncker 2015:26024099}" "" "p.[L541P;A1038V]" "" "Germline" "?" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic" ""
"0000125241" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Duncker 2015:26024099}" "" "p.G1961E" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000125242" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Duncker 2015:26024099}" "" "p.[L541P;A1038V]" "" "Germline" "?" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000125243" "1" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Duncker 2015:26024099}" "" "p.[L541P;A1038V]" "" "Germline" "?" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic" ""
"0000125244" "0" "50" "1" "94496558" "94496560" "del" "0" "01695" "ABCA4_000561" "g.94496558_94496560del" "" "{PMID:Duncker 2015:26024099}" "" "c.4248_4250delCTT" "" "Germline" "-" "" "0" "" "" "g.94031002_94031004del" "" "VUS" ""
"0000125245" "0" "50" "1" "94526186" "94526186" "del" "0" "01695" "ABCA4_000754" "g.94526186del" "" "{PMID:Duncker 2015:26024099}" "" "c.2069delG" "" "Germline" "-" "" "0" "" "" "g.94060630del" "" "VUS" ""
"0000125246" "0" "50" "1" "94564548" "94564548" "subst" "0" "01695" "ABCA4_000197" "g.94564548C>A" "" "{PMID:Duncker 2015:26024099}" "" "c.571-1G>T" "" "Germline" "-" "" "0" "" "" "g.94098992C>A" "" "VUS" ""
"0000125247" "0" "50" "1" "94577046" "94577049" "dup" "0" "01695" "ABCA4_000227" "g.94577046_94577049dup" "" "{PMID:Duncker 2015:26024099}" "" "c.250_251insCAAA" "" "Germline" "-" "" "0" "" "" "g.94111490_94111493dup" "" "VUS" ""
"0000125248" "0" "70" "1" "94526230" "94526230" "subst" "7.32136E-5" "01695" "ABCA4_000760" "g.94526230C>T" "6, 120152, 0, 0.00004994" "{PMID:Duncker 2015:26024099}" "" "p.V675I" "" "Germline" "-" "" "0" "" "" "g.94060674C>T" "" "likely pathogenic" ""
"0000125249" "0" "70" "1" "94476424" "94476424" "subst" "2.43694E-5" "01695" "ABCA4_000418" "g.94476424C>T" "" "{PMID:Duncker 2015:26024099}" "" "p.M1882I" "" "Germline" "?" "" "0" "" "" "g.94010868C>T" "" "likely pathogenic" ""
"0000125250" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Duncker 2015:26024099}" "" "p.G1961E" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000125251" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Duncker 2015:26024099}" "" "p.[L541P;A1038V]" "" "Germline" "?" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000125252" "1" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Duncker 2015:26024099}" "" "p.[L541P;A1038V]" "" "Germline" "?" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic" ""
"0000125253" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Duncker 2015:26024099}" "" "p.G1961E" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000125254" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "24, 119274, 0, 0.0002012" "{PMID:Duncker 2015:26024099}" "" "p.P1380L" "" "Germline" "?" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic" ""
"0000125255" "0" "50" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "14, 120056, 0, 0.0001166" "{PMID:Duncker 2015:26024099}" "" "p.R212C" "" "Germline" "-" "" "0" "" "" "g.94098928G>A" "" "VUS" ""
"0000125256" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Duncker 2015:26024099}" "" "p.G1961E" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000125257" "0" "70" "1" "94510164" "94510164" "subst" "1.62441E-5" "01695" "ABCA4_000144" "g.94510164C>T" "2, 121386, 0, 0.00001648" "{PMID:Duncker 2015:26024099}" "" "c.3050+5G>A" "" "Germline" "?" "" "0" "" "" "g.94044608C>T" "" "likely pathogenic" ""
"0000125258" "3" "50" "1" "94546283" "94546283" "subst" "8.18311E-5" "01695" "ABCA4_000356" "g.94546283A>G" "18, 120572, 0, 0.0001493" "{PMID:Duncker 2015:26024099}" "" "c.859-9T>C" "" "Germline" "?" "" "0" "" "" "g.94080727A>G" "" "VUS" ""
"0000125259" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Duncker 2015:26024099}" "" "p.G1961E" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000125260" "0" "70" "1" "94510164" "94510164" "subst" "1.62441E-5" "01695" "ABCA4_000144" "g.94510164C>T" "2, 121386, 0, 0.00001648" "{PMID:Duncker 2015:26024099}" "" "c.3050+5G>A" "" "Germline" "?" "" "0" "" "" "g.94044608C>T" "" "likely pathogenic" ""
"0000125261" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Duncker 2015:26024099}" "" "p.G1961E" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000125262" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Duncker 2015:26024099}" "" "p.[L541P;R1443H]" "" "Germline" "?" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000125263" "1" "70" "1" "94496008" "94496008" "subst" "2.03056E-5" "01695" "ABCA4_000148" "g.94496008C>T" "" "{PMID:Duncker 2015:26024099}" "" "p.[L541P;R1443H]" "" "Germline" "?" "" "0" "" "" "g.94030452C>T" "" "likely pathogenic" ""
"0000125264" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Duncker 2015:26024099}" "" "p.G1961E" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000125265" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "24, 119274, 0, 0.0002012" "{PMID:Duncker 2015:26024099}" "" "p.P1380L" "" "Germline" "?" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic" ""
"0000125266" "0" "50" "1" "94480164" "94480164" "subst" "0" "01695" "ABCA4_000440" "g.94480164T>C" "" "{PMID:Duncker 2015:26024099}" "" "p.N1799D" "" "Germline" "-" "" "0" "" "" "g.94014608T>C" "" "VUS" ""
"0000125267" "0" "50" "1" "94467467" "94467467" "subst" "4.06164E-6" "01695" "ABCA4_000780" "g.94467467G>A" "" "{PMID:Duncker 2015:26024099}" "" "p.R2077W" "" "Germline" "-" "" "0" "" "" "g.94001911G>A" "" "VUS" ""
"0000125268" "0" "90" "1" "94467523" "94467523" "subst" "0" "01695" "ABCA4_000787" "g.94467523A>C" "" "{PMID:Xin 2015:26161775}" "" "c.6173T>G" "" "Germline" "-" "" "0" "" "" "g.94001967A>C" "" "pathogenic" ""
"0000125269" "0" "70" "1" "94487401" "94487401" "subst" "0" "01695" "ABCA4_000495" "g.94487401C>A" "" "{PMID:Xin 2015:26161775}" "" "c.4773+1G>T" "" "Germline" "?" "" "0" "" "" "g.94021845C>A" "" "likely pathogenic" ""
"0000125270" "0" "90" "1" "94467523" "94467523" "subst" "0" "01695" "ABCA4_000787" "g.94467523A>C" "" "{PMID:Xin 2015:26161775}" "" "c.6173T>G" "" "Germline" "-" "" "0" "" "" "g.94001967A>C" "" "pathogenic" ""
"0000125271" "0" "70" "1" "94473263" "94473263" "del" "0" "01695" "ABCA4_000388" "g.94473263del" "" "{PMID:Xin 2015:26161775}" "" "c.5932delA" "" "Germline" "?" "" "0" "" "" "g.94007707del" "" "likely pathogenic" ""
"0000125272" "0" "90" "1" "94466482" "94466482" "subst" "0" "01695" "ABCA4_000829" "g.94466482A>T" "" "{PMID:Xin 2015:26161775}" "" "c.6389T>A" "" "Germline" "-" "" "0" "" "" "g.94000926A>T" "" "pathogenic" ""
"0000125273" "0" "70" "1" "94471026" "94471026" "subst" "1.21925E-5" "01695" "ABCA4_000791" "g.94471026G>A" "2, 121394, 0, 0.00001648" "{PMID:Xin 2015:26161775}" "" "c.6118C>T" "" "Germline" "?" "" "0" "" "" "g.94005470G>A" "" "likely pathogenic" ""
"0000125274" "0" "90" "1" "94461664" "94461664" "subst" "4.06841E-6" "01695" "ABCA4_000860" "g.94461664C>T" "" "{PMID:Xin 2015:26161775}" "" "c.6816+1G>A" "" "Germline" "-" "" "0" "" "" "g.93996108C>T" "" "pathogenic" ""
"0000125275" "0" "90" "1" "94490589" "94490589" "del" "0" "01695" "ABCA4_000526" "g.94490589del" "" "{PMID:Xin 2015:26161775}" "" "c.4555delA" "" "Germline" "?" "" "0" "" "" "g.94025033del" "" "pathogenic" ""
"0000125276" "10" "70" "1" "94495983" "94495983" "subst" "8.12348E-6" "01695" "ABCA4_000547" "g.94495983C>T" "1, 121268, 0, 0.000008246" "{PMID:Xin 2015:26161775}" "" "c.4352+1G>A" "" "Germline" "-" "" "0" "" "" "g.94030427C>T" "" "likely pathogenic" ""
"0000125277" "21" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "6, 119038, 0, 0.0000504" "{PMID:Xin 2015:26161775}" "" "c.1804C>T" "" "Germline" "?" "" "0" "" "" "g.94062710G>A" "" "pathogenic" ""
"0000125278" "10" "70" "1" "94495983" "94495983" "subst" "8.12348E-6" "01695" "ABCA4_000547" "g.94495983C>T" "1, 121268, 0, 0.000008246" "{PMID:Xin 2015:26161775}" "" "c.4352+1G>A" "" "Germline" "-" "" "0" "" "" "g.94030427C>T" "" "likely pathogenic" ""
"0000125279" "21" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "6, 119038, 0, 0.0000504" "{PMID:Xin 2015:26161775}" "" "c.1804C>T" "" "Germline" "?" "" "0" "" "" "g.94062710G>A" "" "pathogenic" ""
"0000125280" "0" "70" "1" "94476424" "94476424" "subst" "2.43694E-5" "01695" "ABCA4_000418" "g.94476424C>T" "" "{PMID:Xin 2015:26161775}" "" "c.5646G>A" "" "Germline" "-" "" "0" "" "" "g.94010868C>T" "" "likely pathogenic" ""
"0000125281" "0" "70" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "6, 119038, 0, 0.0000504" "{PMID:Xin 2015:26161775}" "" "c.1804C>T" "" "Germline" "?" "" "0" "" "" "g.94062710G>A" "" "likely pathogenic" ""
"0000125282" "0" "70" "1" "94490589" "94490589" "del" "0" "01695" "ABCA4_000526" "g.94490589del" "" "{PMID:Xin 2015:26161775}" "" "c.4555delA" "" "Germline" "-" "" "0" "" "" "g.94025033del" "" "likely pathogenic" ""
"0000125283" "0" "90" "1" "94577132" "94577132" "subst" "0" "01695" "ABCA4_000239" "g.94577132T>C" "" "{PMID:Xin 2015:26161775}" "" "c.164A>G" "" "Germline" "?" "" "0" "" "" "g.94111576T>C" "" "pathogenic" ""
"0000125284" "21" "70" "1" "94577137" "94577137" "subst" "0" "01695" "ABCA4_000242" "g.94577137T>C" "" "{PMID:Xin 2015:26161775}" "" "c.161-2A>G" "" "Germline" "-" "" "0" "" "" "g.94111581T>C" "" "likely pathogenic" ""
"0000125285" "10" "90" "1" "94578589" "94578594" "del" "0" "01695" "ABCA4_000249" "g.94578589_94578594del" "" "{PMID:Xin 2015:26161775}" "" "c.101_106del" "" "Germline" "?" "" "0" "" "" "g.94113033_94113038del" "" "pathogenic" ""
"0000125286" "21" "70" "1" "94577137" "94577137" "subst" "0" "01695" "ABCA4_000242" "g.94577137T>C" "" "{PMID:Xin 2015:26161775}" "" "c.161-2A>G" "" "Germline" "-" "" "0" "" "" "g.94111581T>C" "" "likely pathogenic" ""
"0000125287" "10" "90" "1" "94578589" "94578594" "del" "0" "01695" "ABCA4_000249" "g.94578589_94578594del" "" "{PMID:Xin 2015:26161775}" "" "c.101_106del" "" "Germline" "?" "" "0" "" "" "g.94113033_94113038del" "" "pathogenic" ""
"0000125288" "11" "90" "1" "94520830" "94520830" "subst" "0" "01695" "ABCA4_000727" "g.94520830G>C" "" "{PMID:Xin 2015:26161775}" "" "c.2424C>G" "" "Germline" "-" "" "0" "" "" "g.94055274G>C" "" "pathogenic" ""
"0000125289" "20" "90" "1" "94528868" "94528868" "del" "0" "01695" "ABCA4_000304" "g.94528868del" "" "{PMID:Xin 2015:26161775}" "" "c.1560delG" "" "Germline" "?" "" "0" "" "" "g.94063312del" "" "pathogenic" ""
"0000125290" "11" "90" "1" "94466660" "94466660" "subst" "0" "01695" "ABCA4_000845" "g.94466660T>A" "" "{PMID:Xin 2015:26161775}" "" "c.6284A>T" "" "Germline" "-" "" "0" "" "" "g.94001104T>A" "" "pathogenic" ""
"0000125291" "21" "70" "1" "94586580" "94586580" "subst" "0" "01695" "ABCA4_000260" "g.94586580G>A" "" "{PMID:Xin 2015:26161775}" "" "c.22C>T" "" "Germline" "?" "" "0" "" "" "g.94121024G>A" "" "likely pathogenic" ""
"0000125292" "11" "70" "1" "94577055" "94577056" "del" "0" "01695" "ABCA4_000229" "g.94577055_94577056del" "" "{PMID:Xin 2015:26161775}" "" "c.240_241del" "" "Germline" "-" "" "0" "" "" "g.94111499_94111500del" "" "likely pathogenic" ""
"0000125293" "21" "90" "1" "94578589" "94578594" "del" "0" "01695" "ABCA4_000249" "g.94578589_94578594del" "" "{PMID:Xin 2015:26161775}" "" "c.101_106del" "" "Germline" "?" "" "0" "" "" "g.94113033_94113038del" "" "pathogenic" ""
"0000125294" "11" "70" "1" "94577055" "94577056" "del" "0" "01695" "ABCA4_000229" "g.94577055_94577056del" "" "{PMID:Xin 2015:26161775}" "" "c.240_241del" "" "Germline" "-" "" "0" "" "" "g.94111499_94111500del" "" "likely pathogenic" ""
"0000125295" "21" "90" "1" "94578589" "94578594" "del" "0" "01695" "ABCA4_000249" "g.94578589_94578594del" "" "{PMID:Xin 2015:26161775}" "" "c.101_106del" "" "Germline" "?" "" "0" "" "" "g.94113033_94113038del" "" "pathogenic" ""
"0000125296" "21" "70" "1" "94496610" "94496610" "subst" "1.21877E-5" "01695" "ABCA4_000572" "g.94496610C>A" "2, 120596, 0, 0.00001658" "{PMID:Xin 2015:26161775}" "" "c.4195G>T" "" "Germline" "-" "" "0" "" "" "g.94031054C>A" "" "likely pathogenic" ""
"0000125297" "10" "90" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "21, 121302, 0, 0.0001731" "{PMID:Xin 2015:26161775}" "" "c.2894A>G" "" "Germline" "?" "" "0" "" "" "g.94046943T>C" "" "pathogenic" ""
"0000125298" "21" "70" "1" "94496610" "94496610" "subst" "1.21877E-5" "01695" "ABCA4_000572" "g.94496610C>A" "2, 120596, 0, 0.00001658" "{PMID:Xin 2015:26161775}" "" "c.4195G>T" "" "Germline" "-" "" "0" "" "" "g.94031054C>A" "" "likely pathogenic" ""
"0000125299" "10" "90" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "21, 121302, 0, 0.0001731" "{PMID:Xin 2015:26161775}" "" "c.2894A>G" "" "Germline" "?" "" "0" "" "" "g.94046943T>C" "" "pathogenic" ""
"0000125300" "21" "70" "1" "94496610" "94496610" "subst" "1.21877E-5" "01695" "ABCA4_000572" "g.94496610C>A" "2, 120596, 0, 0.00001658" "{PMID:Xin 2015:26161775}" "" "c.4195G>T" "" "Germline" "-" "" "0" "" "" "g.94031054C>A" "" "likely pathogenic" ""
"0000125301" "10" "90" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "21, 121302, 0, 0.0001731" "{PMID:Xin 2015:26161775}" "" "c.2894A>G" "" "Germline" "?" "" "0" "" "" "g.94046943T>C" "" "pathogenic" ""
"0000125302" "3" "90" "1" "94487401" "94487401" "subst" "0" "01695" "ABCA4_000495" "g.94487401C>A" "" "{PMID:Xin 2015:26161775}" "" "c.4773+1G>T" "" "Germline" "yes" "" "0" "" "" "g.94021845C>A" "" "pathogenic" ""
"0000125303" "20" "70" "1" "94476424" "94476424" "subst" "2.43694E-5" "01695" "ABCA4_000418" "g.94476424C>T" "" "{PMID:Xin 2015:26161775}" "" "c.5646G>A" "" "Germline" "-" "" "0" "" "" "g.94010868C>T" "" "likely pathogenic" ""
"0000125304" "11" "70" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "21, 121302, 0, 0.0001731" "{PMID:Xin 2015:26161775}" "" "c.2894A>G" "" "Germline" "?" "" "0" "" "" "g.94046943T>C" "" "likely pathogenic" ""
"0000125305" "21" "90" "1" "94463583" "94463583" "subst" "8.12183E-6" "01695" "ABCA4_000806" "g.94463583A>G" "2, 121380, 0, 0.00001648" "{PMID:Xin 2015:26161775}" "" "c.6563T>C" "" "Germline" "-" "" "0" "" "" "g.93998027A>G" "" "pathogenic" ""
"0000125306" "11" "70" "1" "94548906" "94548906" "subst" "0" "01695" "ABCA4_000358" "g.94548906A>T" "" "{PMID:Xin 2015:26161775}" "" "c.858+2T>A" "" "Germline" "yes" "" "0" "" "" "g.94083350A>T" "" "likely pathogenic" ""
"0000125307" "11" "70" "1" "94466627" "94466627" "subst" "0" "01695" "ABCA4_000840" "g.94466627C>G" "" "{PMID:Xin 2015:26161775}" "" "c.6317G>C" "" "Germline" "-" "" "0" "" "" "g.94001071C>G" "" "likely pathogenic" ""
"0000125308" "21" "70" "1" "94578589" "94578594" "del" "0" "01695" "ABCA4_000249" "g.94578589_94578594del" "" "{PMID:Xin 2015:26161775}" "" "c.101_106del" "" "Germline" "yes" "" "0" "" "" "g.94113033_94113038del" "" "likely pathogenic" ""
"0000125309" "20" "90" "1" "94466390" "94466390" "subst" "0" "01695" "ABCA4_000812" "g.94466390A>G" "" "{PMID:Xin 2015:26161775}" "" "c.6479+2T>C" "" "Germline" "-" "" "0" "" "" "g.94000834A>G" "" "pathogenic" ""
"0000125310" "11" "90" "1" "94485137" "94485137" "subst" "0" "01695" "ABCA4_000464" "g.94485137C>T" "3, 49858, 0, 0.00006017" "{PMID:Xin 2015:26161775}" "" "c.5196+1G>A" "" "Germline" "?" "" "0" "" "" "g.94019581C>T" "" "pathogenic" ""
"0000125311" "11" "70" "1" "94476424" "94476424" "subst" "2.43694E-5" "01695" "ABCA4_000418" "g.94476424C>T" "" "{PMID:Xin 2015:26161775}" "" "c.5646G>A" "" "Germline" "-" "" "0" "" "" "g.94010868C>T" "" "likely pathogenic" ""
"0000125312" "20" "70" "1" "94490522" "94490522" "subst" "0" "01695" "ABCA4_000519" "g.94490522A>G" "" "{PMID:Xin 2015:26161775}" "" "c.4622T>C" "" "Germline" "?" "" "0" "" "" "g.94024966A>G" "" "likely pathogenic" ""
"0000125313" "0" "70" "1" "94487251" "94487251" "subst" "0" "01695" "ABCA4_000491" "g.94487251G>C" "" "{PMID:Xin 2015:26161775}" "" "c.4793C>G" "" "Germline" "-" "" "0" "" "" "g.94021695G>C" "" "likely pathogenic" ""
"0000125314" "0" "70" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "14, 120056, 0, 0.0001166" "{PMID:Xin 2015:26161775}" "" "c.634C>T" "" "Germline" "?" "" "0" "" "" "g.94098928G>A" "" "likely pathogenic" ""
"0000125315" "3" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Audere 2015:26229699}" "" "(c.1622T>C, p.L541P; c.3113C>T, p.A1038V)" "" "Germline" "?" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000125316" "3" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Audere 2015:26229699}" "" "(c.1622T>C, p.L541P; c.3113C>T, p.A1038V)" "" "Germline" "?" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic" ""
"0000125317" "3" "50" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "13, 121216, 0, 0.0001072" "{PMID:Kjellström 2015:26261413}" "" "c.768 G>T" "" "Germline" "?" "" "0" "" "" "g.94098794C>A" "" "VUS" ""
"0000125318" "3" "50" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "13, 121216, 0, 0.0001072" "{PMID:Kjellström 2015:26261413}" "" "c.768 G>T" "" "Germline" "?" "" "0" "" "" "g.94098794C>A" "" "VUS" ""
"0000125319" "11" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Kjellström 2015:26261413}" "" "c.5461–10T>C" "" "Germline" "-" "" "0" "" "" "g.94011395A>G" "" "pathogenic" ""
"0000125320" "21" "50" "1" "94574256" "94574256" "subst" "2.8425E-5" "01695" "ABCA4_000040" "g.94574256G>A" "7, 121378, 0, 0.00005767" "{PMID:Kjellström 2015:26261413}" "" "c.319 C>T" "" "Germline" "?" "" "0" "" "" "g.94108700G>A" "" "VUS" ""
"0000125321" "11" "50" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "21, 121302, 0, 0.0001731" "{PMID:Kjellström 2015:26261413}" "" "c.2894 A>G" "" "Germline" "-" "" "0" "" "" "g.94046943T>C" "" "VUS" ""
"0000125322" "21" "70" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "13, 121216, 0, 0.0001072" "{PMID:Kjellström 2015:26261413}" "" "c.768 G>T" "" "Germline" "?" "" "0" "" "" "g.94098794C>A" "" "likely pathogenic" ""
"0000125323" "11" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "15, 121412, 0, 0.0001235" "{PMID:Kjellström 2015:26261413}" "" "c.1622 T>C" "" "Germline" "-" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000125324" "21" "70" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "6, 119038, 0, 0.0000504" "{PMID:Kjellström 2015:26261413}" "" "c.1804 C>T" "" "Germline" "?" "" "0" "" "" "g.94062710G>A" "" "likely pathogenic" ""
"0000125325" "11" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "12, 60116, 0, 0.0001996" "{PMID:Kjellström 2015:26261413}" "" "c.4469 G>A" "" "Germline" "-" "" "0" "" "" "g.94029515C>T" "" "likely pathogenic" ""
"0000125326" "21" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "26, 121404, 0, 0.0002142" "{PMID:Kjellström 2015:26261413}" "" "c.6079 C>T" "" "Germline" "?" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic" ""
"0000125327" "3" "70" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "21, 121302, 0, 0.0001731" "{PMID:Kjellström 2015:26261413}" "" "c.2894 A>G" "" "Germline" "?" "" "0" "" "" "g.94046943T>C" "" "likely pathogenic" ""
"0000125328" "11" "90" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "21, 121302, 0, 0.0001731" "{PMID:Kjellström 2015:26261413}" "" "c.2894 A>G" "" "Germline" "-" "" "0" "" "" "g.94046943T>C" "" "pathogenic" ""
"0000125329" "21" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "42, 120772, 0, 0.0003478" "{PMID:Kjellström 2015:26261413}" "" "c.5714+5G>A" "" "Germline" "?" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic" ""
"0000125330" "11" "90" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "21, 121302, 0, 0.0001731" "{PMID:Kjellström 2015:26261413}" "" "c.2894 A>G" "" "Germline" "-" "" "0" "" "" "g.94046943T>C" "" "pathogenic" ""
"0000125331" "21" "70" "1" "94488940" "94488940" "subst" "0" "01695" "ABCA4_000511" "g.94488940A>G" "1, 99492, 0, 0.00001005" "{PMID:Kjellström 2015:26261413}" "" "c.4667+2T>C" "" "Germline" "?" "" "0" "" "" "g.94023384A>G" "" "likely pathogenic" ""
"0000125332" "0" "50" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Nõupuu 2015:26311262}" "" "c.[5461-10T>C]" "" "Germline" "-" "" "0" "" "" "g.94011395A>G" "" "VUS" ""
"0000125333" "0" "70" "1" "94497392" "94497392" "subst" "0" "01695" "ABCA4_000577" "g.94497392G>A" "" "{PMID:Nõupuu 2015:26311262}" "" "p.[A1357V]" "" "Germline" "-" "" "0" "" "" "g.94031836G>A" "" "likely pathogenic" ""
"0000125334" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Nõupuu 2015:26311262}" "" "p.[G1961E]" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000125335" "0" "50" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "227, 121250, 3, 0.001872" "{PMID:Nõupuu 2015:26311262}" "" "p.[R2107H]" "" "Germline" "-" "" "0" "" "" "g.94001068C>T" "" "VUS" ""
"0000125336" "0" "70" "1" "94568663" "94568663" "subst" "0" "01695" "ABCA4_000209" "g.94568663C>A" "" "{PMID:Nõupuu 2015:26311262}" "" "p.[E160*]" "" "Germline" "-" "" "0" "" "" "g.94103107C>A" "" "likely pathogenic" ""
"0000125337" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "14, 121282, 0, 0.0001154" "{PMID:Nõupuu 2015:26311262}" "" "p.[R1108C]" "" "Germline" "?" "" "0" "" "" "g.94042767G>A" "" "pathogenic" ""
"0000125338" "0" "70" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "227, 121250, 3, 0.001872" "{PMID:Nõupuu 2015:26311262}, {PMID:Duncker 2015:26551331}" "" "p.[R2107H]" "" "Germline" "-" "" "0" "" "" "g.94001068C>T" "" "likely pathogenic" ""
"0000125339" "0" "30" "1" "94528851" "94528851" "subst" "0" "01695" "ABCA4_000303" "g.94528851T>G" "" "{PMID:Nõupuu 2015:26311262}, {PMID:Duncker 2015:26551331}" "" "p.[E526A]" "" "Germline" "?" "" "0" "" "" "g.94063295T>G" "" "likely benign" ""
"0000125340" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "6, 119038, 0, 0.0000504" "{PMID:Nõupuu 2015:26311262}" "" "p.[R602W]" "" "Germline" "-" "" "0" "" "" "g.94062710G>A" "" "pathogenic" ""
"0000125341" "0" "70" "1" "94510212" "94510212" "subst" "0" "01695" "ABCA4_000665" "g.94510212G>A" "" "{PMID:Nõupuu 2015:26311262}" "" "p.[Q1003*]" "" "Germline" "-" "" "0" "" "" "g.94044656G>A" "" "likely pathogenic" ""
"0000125342" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Nõupuu 2015:26311262}" "" "p.[G1961E]" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "pathogenic" ""
"0000125343" "3" "90" "1" "94528132" "94528132" "subst" "4.06835E-6" "01695" "ABCA4_000773" "g.94528132C>T" "1, 120972, 0, 0.000008266" "{PMID:Eandi 2014:24585425}" "" "c.1937+1G>A" "" "Germline" "yes" "" "0" "" "" "g.94062576C>T" "" "pathogenic" ""
"0000125344" "3" "90" "1" "94528132" "94528132" "subst" "4.06835E-6" "01695" "ABCA4_000773" "g.94528132C>T" "1, 120972, 0, 0.000008266" "{PMID:Eandi 2014:24585425}" "" "c.1937+1G>A" "" "Germline" "yes" "" "0" "" "" "g.94062576C>T" "" "pathogenic" ""
"0000125345" "0" "50" "1" "94463476" "94468246" "delins" "0" "01695" "ABCA4_000800" "g.94463476_94468246delinsCTAGGGAGGTGCACA" "" "{PMID:Lee 2015:26527198}" "" "c.6148-698_c.6670del/insTGTGCACCTCCCTAG" "" "Germline" "-" "" "0" "" "" "g.93997920_94002690delinsCTAGGGAGGTGCACA" "" "VUS" ""
"0000125346" "1" "30" "1" "94576926" "94576926" "subst" "0" "01695" "ABCA4_000219" "g.94576926G>A" "" "{PMID:Lee 2015:26527198}, {PMID:Albert 2018:29526278}" "" "c.[302+68C>T;4539+2028C>T]" "" "Germline" "" "" "0" "" "" "g.94111370G>A" "" "likely benign" ""
"0000125347" "1" "90" "1" "94492973" "94492973" "subst" "0" "01695" "ABCA4_000030" "g.94492973G>A" "" "{PMID:Lee 2015:26527198}, {PMID:Albert 2018:29526278}" "" "c.[302+68C>T;4539+2028C>T]" "0.15 ABCA4 transcripts" "Germline" "" "" "0" "" "" "g.94027417G>A" "" "pathogenic (recessive)" ""
"0000125348" "0" "50" "1" "94463476" "94468246" "delins" "0" "01695" "ABCA4_000800" "g.94463476_94468246delinsCTAGGGAGGTGCACA" "" "{PMID:Lee 2015:26527198}" "" "c.6148-698_c.6670del/insTGTGCACCTCCCTAG" "" "Germline" "-" "" "0" "" "" "g.93997920_94002690delinsCTAGGGAGGTGCACA" "" "VUS" ""
"0000125349" "1" "50" "1" "94576926" "94576926" "subst" "0" "01695" "ABCA4_000219" "g.94576926G>A" "" "{PMID:Lee 2015:26527198}" "" "c.[302+68C>T;4539+2028C>T]" "" "Germline" "" "" "0" "" "" "g.94111370G>A" "" "VUS" ""
"0000125350" "1" "90" "1" "94492973" "94492973" "subst" "0" "01695" "ABCA4_000030" "g.94492973G>A" "" "{PMID:Lee 2015:26527198}" "" "c.[302+68C>T;4539+2028C>T]" "" "Germline" "" "" "0" "" "" "g.94027417G>A" "" "pathogenic (recessive)" ""
"0000125351" "11" "50" "1" "94577135" "94577135" "subst" "2.43718E-5" "01695" "ABCA4_000240" "g.94577135C>T" "2, 121210, 0, 0.0000165" "{PMID:Lee 2015:26527198}" "" "p.C54Y" "" "Germline" "-" "" "0" "" "" "g.94111579C>T" "" "VUS" ""
"0000125352" "21" "50" "1" "94576926" "94576926" "subst" "0" "01695" "ABCA4_000219" "g.94576926G>A" "" "{PMID:Lee 2015:26527198}" "" "c.[302+68C>T;4539+2028C>T]" "" "Germline" "yes" "" "0" "" "" "g.94111370G>A" "" "VUS" ""
"0000125353" "21" "90" "1" "94492973" "94492973" "subst" "0" "01695" "ABCA4_000030" "g.94492973G>A" "" "{PMID:Lee 2015:26527198}" "" "c.[302+68C>T;4539+2028C>T]" "" "Germline" "yes" "" "0" "" "" "g.94027417G>A" "" "pathogenic (recessive)" ""
"0000125354" "21" "50" "1" "94576926" "94576926" "subst" "0" "01695" "ABCA4_000219" "g.94576926G>A" "" "{PMID:Lee 2015:26527198}" "" "c.[302+68C>T;4539+2028C>T]" "" "Germline" "-" "" "0" "" "" "g.94111370G>A" "" "VUS" ""
"0000125355" "21" "70" "1" "94492973" "94492973" "subst" "0" "01695" "ABCA4_000030" "g.94492973G>A" "" "{PMID:Lee 2015:26527198}" "" "c.[302+68C>T;4539+2028C>T]" "" "Germline" "-" "" "0" "" "" "g.94027417G>A" "" "likely pathogenic (recessive)" ""
"0000125356" "11" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Lee 2015:26527198}" "" "p.G1961E" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000125357" "21" "70" "1" "94463476" "94468246" "delins" "0" "01695" "ABCA4_000800" "g.94463476_94468246delinsCTAGGGAGGTGCACA" "" "{PMID:Lee 2015:26527198}" "" "c.6148-698_c.6670del/insTGTGCACCTCCCTAG" "" "Germline" "-" "" "0" "" "" "g.93997920_94002690delinsCTAGGGAGGTGCACA" "" "likely pathogenic (recessive)" ""
"0000125358" "11" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Lee 2015:26527198}" "" "p.G1961E" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000125359" "3" "90" "1" "94510292" "94510292" "del" "0" "01695" "ABCA4_000673" "g.94510292del" "" "{PMID:Beheshtian 2015:26497376}" "" "c.2927del" "" "Germline" "?" "" "0" "" "" "g.94044736del" "" "pathogenic" ""
"0000125360" "3" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Sciezynska 2015:26593885}" "" "p.[(L541P; A1038V)]" "" "Germline" "?" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000125361" "3" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Sciezynska 2015:26593885}" "" "p.[(L541P; A1038V)]" "" "Germline" "?" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic" ""
"0000125362" "3" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Sciezynska 2015:26593885}" "" "p.[(L541P; A1038V)]" "" "Germline" "?" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000125363" "3" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Sciezynska 2015:26593885}" "" "p.[(L541P; A1038V)]" "" "Germline" "?" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic" ""
"0000125364" "3" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Sciezynska 2015:26593885}" "" "p.[(L541P; A1038V)]" "" "Germline" "?" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000125365" "3" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Sciezynska 2015:26593885}" "" "p.[(L541P; A1038V)]" "" "Germline" "?" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic" ""
"0000125366" "3" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Sciezynska 2015:26593885}" "" "p.[(L541P; A1038V)]" "" "Germline" "?" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000125367" "3" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Sciezynska 2015:26593885}" "" "p.[(L541P; A1038V)]" "" "Germline" "?" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic" ""
"0000125368" "3" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Sciezynska 2015:26593885}" "" "p.[(L541P; A1038V)]" "" "Germline" "?" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000125369" "3" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Sciezynska 2015:26593885}" "" "p.[(L541P; A1038V)]" "" "Germline" "?" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic" ""
"0000125370" "3" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Sciezynska 2015:26593885}" "" "p.[(L541P; A1038V)]" "" "Germline" "?" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000125371" "3" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Sciezynska 2015:26593885}" "" "p.[(L541P; A1038V)]" "" "Germline" "?" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic" ""
"0000125372" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Sciezynska 2015:26593885}" "" "p.[(L541P; A1038V)]" "" "Germline" "-" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000125373" "1" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Sciezynska 2015:26593885}" "" "p.[(L541P; A1038V)]" "" "Germline" "-" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic" ""
"0000125374" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Sciezynska 2015:26593885}" "" "p.G1961E" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000125375" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Sciezynska 2015:26593885}" "" "p.[(L541P; A1038V)]" "" "Germline" "-" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000125376" "1" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Sciezynska 2015:26593885}" "" "p.[(L541P; A1038V)]" "" "Germline" "-" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic" ""
"0000125377" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Sciezynska 2015:26593885}" "" "p.G1961E" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000125378" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Sciezynska 2015:26593885}" "" "p.[(L541P; A1038V)]" "" "Germline" "-" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000125379" "1" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Sciezynska 2015:26593885}" "" "p.[(L541P; A1038V)]" "" "Germline" "-" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic" ""
"0000125380" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Sciezynska 2015:26593885}" "" "p.G1961E" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000125381" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Sciezynska 2015:26593885}" "" "p.[(L541P; A1038V)]" "" "Germline" "-" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000125382" "1" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Sciezynska 2015:26593885}" "" "p.[(L541P; A1038V)]" "" "Germline" "-" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic" ""
"0000125383" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Sciezynska 2015:26593885}" "" "p.G1961E" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000125384" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Sciezynska 2015:26593885}" "" "p.[(L541P; A1038V)]" "" "Germline" "-" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000125385" "1" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Sciezynska 2015:26593885}" "" "p.[(L541P; A1038V)]" "" "Germline" "-" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic" ""
"0000125386" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Sciezynska 2015:26593885}" "" "p.G1961E" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000125387" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Sciezynska 2015:26593885}" "" "p.[(L541P; A1038V)]" "" "Germline" "-" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000125388" "1" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Sciezynska 2015:26593885}" "" "p.[(L541P; A1038V)]" "" "Germline" "-" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic" ""
"0000125389" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Sciezynska 2015:26593885}" "" "p.G1961E" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000125390" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Sciezynska 2015:26593885}" "" "p.[(L541P; A1038V)]" "" "Germline" "-" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000125391" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Sciezynska 2015:26593885}" "" "p.[(L541P; A1038V)]" "" "Germline" "-" "" "0" "" "" "g.94043413G>A" "" "pathogenic" ""
"0000125392" "1" "50" "1" "94568686" "94568686" "subst" "0.00258122" "01695" "ABCA4_000212" "g.94568686C>T" "" "{PMID:Sciezynska 2015:26593885}" "" "p.[(R152*; V2050L)]" "" "Germline" "?" "" "0" "" "" "g.94103130C>T" "" "VUS" ""
"0000125393" "1" "70" "1" "94467548" "94467548" "subst" "0.00295661" "01695" "ABCA4_000788" "g.94467548C>G" "" "{PMID:Sciezynska 2015:26593885}" "" "p.[(R152*; V2050L)]" "" "Germline" "?" "" "0" "" "" "g.94001992C>G" "" "likely pathogenic" ""
"0000125394" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Sciezynska 2015:26593885}" "" "p.[(L541P; A1038V)]" "" "Germline" "-" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000125395" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Sciezynska 2015:26593885}" "" "p.[(L541P; A1038V)]" "" "Germline" "-" "" "0" "" "" "g.94043413G>A" "" "pathogenic" ""
"0000125396" "1" "50" "1" "94568686" "94568686" "subst" "0.00258122" "01695" "ABCA4_000212" "g.94568686C>T" "" "{PMID:Sciezynska 2015:26593885}" "" "p.[(R152*; V2050L)]" "" "Germline" "?" "" "0" "" "" "g.94103130C>T" "" "VUS" ""
"0000125397" "1" "70" "1" "94467548" "94467548" "subst" "0.00295661" "01695" "ABCA4_000788" "g.94467548C>G" "" "{PMID:Sciezynska 2015:26593885}" "" "p.[(R152*; V2050L)]" "" "Germline" "?" "" "0" "" "" "g.94001992C>G" "" "likely pathogenic" ""
"0000125398" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Sciezynska 2015:26593885}" "" "p.[(L541P; A1038V)]" "" "Germline" "-" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000125399" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Sciezynska 2015:26593885}" "" "p.[(L541P; A1038V)]" "" "Germline" "-" "" "0" "" "" "g.94043413G>A" "" "pathogenic" ""
"0000125400" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Sciezynska 2015:26593885}" "" "p.G863A" "" "Germline" "?" "rs76157638" "0" "" "" "g.94051698C>G" "" "likely pathogenic" ""
"0000125401" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Sciezynska 2015:26593885}" "" "p.[(L541P; A1038V)]" "" "Germline" "-" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000125402" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Sciezynska 2015:26593885}" "" "p.[(L541P; A1038V)]" "" "Germline" "-" "" "0" "" "" "g.94043413G>A" "" "pathogenic" ""
"0000125403" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Sciezynska 2015:26593885}" "" "p.G863A" "" "Germline" "?" "rs76157638" "0" "" "" "g.94051698C>G" "" "likely pathogenic" ""
"0000125404" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Sciezynska 2015:26593885}" "" "p.[(L541P; A1038V)]" "" "Germline" "-" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000125405" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Sciezynska 2015:26593885}" "" "p.[(L541P; A1038V)]" "" "Germline" "-" "" "0" "" "" "g.94043413G>A" "" "pathogenic" ""
"0000125406" "0" "70" "1" "94490606" "94490606" "subst" "4.06091E-6" "01695" "ABCA4_000086" "g.94490606T>C" "" "{PMID:Sciezynska 2015:26593885}" "" "c.4540-2A>G" "" "Germline" "?" "" "0" "" "" "g.94025050T>C" "" "likely pathogenic" ""
"0000125407" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Sciezynska 2015:26593885}" "" "p.[(L541P; A1038V)]" "" "Germline" "-" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000125408" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Sciezynska 2015:26593885}" "" "p.[(L541P; A1038V)]" "" "Germline" "-" "" "0" "" "" "g.94043413G>A" "" "pathogenic" ""
"0000125409" "0" "70" "1" "94490606" "94490606" "subst" "4.06091E-6" "01695" "ABCA4_000086" "g.94490606T>C" "" "{PMID:Sciezynska 2015:26593885}" "" "c.4540-2A>G" "" "Germline" "?" "" "0" "" "" "g.94025050T>C" "" "likely pathogenic" ""
"0000125410" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Sciezynska 2015:26593885}" "" "p.[(L541P; A1038V)]" "" "Germline" "-" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000125411" "1" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Sciezynska 2015:26593885}" "" "p.[(L541P; A1038V)]" "" "Germline" "-" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic" ""
"0000125412" "0" "70" "1" "94544159" "94544159" "subst" "2.03079E-5" "01695" "ABCA4_000063" "g.94544159A>T" "2, 121412, 0, 0.00001647" "{PMID:Sciezynska 2015:26593885}" "" "p.M448K" "" "Germline" "?" "" "0" "" "" "g.94078603A>T" "" "likely pathogenic" ""
"0000125413" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Sciezynska 2015:26593885}" "" "p.[(L541P; A1038V)]" "" "Germline" "-" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000125414" "1" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Sciezynska 2015:26593885}" "" "p.[(L541P; A1038V)]" "" "Germline" "-" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic" ""
"0000125415" "0" "70" "1" "94544159" "94544159" "subst" "2.03079E-5" "01695" "ABCA4_000063" "g.94544159A>T" "2, 121412, 0, 0.00001647" "{PMID:Sciezynska 2015:26593885}" "" "p.M448K" "" "Germline" "?" "" "0" "" "" "g.94078603A>T" "" "likely pathogenic" ""
"0000125416" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Sciezynska 2015:26593885}" "" "p.[(L541P; A1038V)]" "" "Germline" "-" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000125417" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Sciezynska 2015:26593885}" "" "p.[(L541P; A1038V)]" "" "Germline" "-" "" "0" "" "" "g.94043413G>A" "" "pathogenic" ""
"0000125418" "0" "70" "1" "94480098" "94480098" "subst" "0" "01695" "ABCA4_000437" "g.94480098C>T" "" "{PMID:Sciezynska 2015:26593885}" "" "c.5460+1G>A" "" "Germline" "?" "" "0" "" "" "g.94014542C>T" "" "likely pathogenic" ""
"0000125419" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Sciezynska 2015:26593885}" "" "p.[(L541P; A1038V)]" "" "Germline" "-" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000125420" "1" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Sciezynska 2015:26593885}" "" "p.[(L541P; A1038V)]" "" "Germline" "-" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic" ""
"0000125421" "0" "70" "1" "94486895" "94486895" "subst" "3.24923E-5" "01695" "ABCA4_000484" "g.94486895C>T" "7, 121398, 0, 0.00005766" "{PMID:Sciezynska 2015:26593885}" "" "p.R1640Q" "" "Germline" "?" "" "0" "" "" "g.94021339C>T" "" "likely pathogenic" ""
"0000125422" "1" "30" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Sciezynska 2015:26593885}" "" "p.[(L541P; A1038V)]" "" "Germline" "-" "" "0" "" "" "g.94063250A>G" "" "likely benign" ""
"0000125423" "1" "30" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Sciezynska 2015:26593885}" "" "p.[(L541P; A1038V)]" "" "Germline" "-" "" "0" "" "" "g.94043413G>A" "" "likely benign" ""
"0000125424" "0" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "173, 121304, 0, 0.001426" "{PMID:Sciezynska 2015:26593885}" "" "p.A1038V" "" "Germline" "?" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic" ""
"0000125425" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Sciezynska 2015:26593885}" "" "p.[(L541P; A1038V)]" "" "Germline" "-" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000125426" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Sciezynska 2015:26593885}" "" "p.[(L541P; A1038V)]" "" "Germline" "-" "" "0" "" "" "g.94043413G>A" "" "pathogenic" ""
"0000125427" "0" "70" "1" "94496571" "94496571" "subst" "4.06174E-6" "01695" "ABCA4_000111" "g.94496571G>A" "" "{PMID:Sciezynska 2015:26593885}" "" "p.Q1412*" "" "Germline" "?" "" "0" "" "" "g.94031015G>A" "" "likely pathogenic" ""
"0000125428" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Sciezynska 2015:26593885}" "" "p.[(L541P; A1038V)]" "" "Germline" "-" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000125429" "1" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Sciezynska 2015:26593885}" "" "p.[(L541P; A1038V)]" "" "Germline" "-" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic" ""
"0000125430" "0" "70" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "14, 120056, 0, 0.0001166" "{PMID:Sciezynska 2015:26593885}" "" "p.R212C" "" "Germline" "?" "" "0" "" "" "g.94098928G>A" "" "likely pathogenic" ""
"0000125431" "1" "50" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Sciezynska 2015:26593885}" "" "p.[(L541P; A1038V)]" "" "Germline" "-" "" "0" "" "" "g.94063250A>G" "" "VUS" ""
"0000125432" "1" "50" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Sciezynska 2015:26593885}" "" "p.[(L541P; A1038V)]" "" "Germline" "-" "" "0" "" "" "g.94043413G>A" "" "VUS" ""
"0000125433" "0" "70" "1" "94473856" "94473856" "subst" "0" "01695" "ABCA4_000058" "g.94473856G>T" "" "{PMID:Sciezynska 2015:26593885}" "" "c.5836-3C>A" "" "Germline" "?" "" "0" "" "" "g.94008300G>T" "" "likely pathogenic" ""
"0000125434" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Sciezynska 2015:26593885}" "" "p.[(L541P; A1038V)]" "" "Germline" "-" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000125435" "1" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Sciezynska 2015:26593885}" "" "p.[(L541P; A1038V)]" "" "Germline" "-" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic" ""
"0000125436" "0" "70" "1" "94528680" "94528680" "subst" "0" "01695" "ABCA4_000064" "g.94528680T>A" "" "{PMID:Sciezynska 2015:26593885}" "" "p.K583M" "" "Germline" "?" "" "0" "" "" "g.94063124T>A" "" "likely pathogenic" ""
"0000125437" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Sciezynska 2015:26593885}" "" "p.[(L541P; A1038V)]" "" "Germline" "-" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000125438" "1" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Sciezynska 2015:26593885}" "" "p.[(L541P; A1038V)]" "" "Germline" "-" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic" ""
"0000125439" "0" "70" "1" "94495021" "94495021" "subst" "0.000161713" "01695" "ABCA4_000538" "g.94495021C>T" "3, 22706, 0, 0.0001321" "{PMID:Sciezynska 2015:26593885}" "" "p.G1507R" "" "Germline" "?" "" "0" "" "" "g.94029465C>T" "" "likely pathogenic" ""
"0000125440" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Sciezynska 2015:26593885}" "" "p.[(L541P; A1038V)]" "" "Germline" "-" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000125441" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Sciezynska 2015:26593885}" "" "p.[(L541P; A1038V)]" "" "Germline" "-" "" "0" "" "" "g.94043413G>A" "" "pathogenic" ""
"0000125442" "0" "70" "1" "94467548" "94467548" "subst" "0.00295661" "01695" "ABCA4_000788" "g.94467548C>G" "334, 121350, 0, 0.002752" "{PMID:Sciezynska 2015:26593885}" "" "p.V2050L" "" "Germline" "?" "" "0" "" "" "g.94001992C>G" "" "likely pathogenic" ""
"0000125443" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Sciezynska 2015:26593885}" "" "p.[(L541P; A1038V)]" "" "Germline" "-" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000125444" "1" "50" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Sciezynska 2015:26593885}" "" "p.[(L541P; A1038V)]" "" "Germline" "-" "" "0" "" "" "g.94043413G>A" "" "VUS" ""
"0000125445" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Sciezynska 2015:26593885}" "" "p.G1961E" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000125446" "0" "70" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Sciezynska 2015:26593885}" "" "c.5461-10T>C" "" "Germline" "?" "" "0" "" "" "g.94011395A>G" "" "likely pathogenic" ""
"0000125447" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Sciezynska 2015:26593885}" "" "p.G1961E" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000125448" "0" "70" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Sciezynska 2015:26593885}" "" "c.5461-10T>C" "" "Germline" "?" "" "0" "" "" "g.94011395A>G" "" "likely pathogenic" ""
"0000125449" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Sciezynska 2015:26593885}" "" "p.G1961E" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "pathogenic" ""
"0000125450" "0" "70" "1" "94526265" "94526265" "subst" "0" "01695" "ABCA4_000143" "g.94526265C>T" "" "{PMID:Sciezynska 2015:26593885}" "" "p.W663*" "" "Germline" "?" "" "0" "" "" "g.94060709C>T" "" "likely pathogenic" ""
"0000125451" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Sciezynska 2015:26593885}" "" "p.G1961E" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "pathogenic" ""
"0000125452" "0" "70" "1" "94481294" "94481294" "subst" "0" "01695" "ABCA4_000110" "g.94481294C>T" "" "{PMID:Sciezynska 2015:26593885}" "" "c.5312+1G>A" "" "Germline" "?" "" "0" "" "" "g.94015738C>T" "" "likely pathogenic" ""
"0000125453" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Sciezynska 2015:26593885}" "" "p.G1961E" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "pathogenic" ""
"0000125454" "0" "70" "1" "94481293" "94481293" "subst" "4.07448E-6" "01695" "ABCA4_000057" "g.94481293A>C" "" "{PMID:Sciezynska 2015:26593885}" "" "c.5312+2T>G" "" "Germline" "?" "" "0" "" "" "g.94015737A>C" "" "likely pathogenic" ""
"0000125455" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Sciezynska 2015:26593885}" "" "p.G1961E" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000125456" "0" "70" "1" "94512541" "94512541" "subst" "0" "01695" "ABCA4_000066" "g.94512541A>G" "" "{PMID:Sciezynska 2015:26593885}" "" "p.I951T" "" "Germline" "?" "" "0" "" "" "g.94046985A>G" "" "likely pathogenic" ""
"0000125457" "3" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Sciezynska 2015:26593885}" "" "p.G1961E" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000125458" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Sciezynska 2015:26593885}" "" "p.G1961E" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "pathogenic" ""
"0000125459" "0" "70" "1" "94520733" "94520733" "subst" "4.06345E-6" "01695" "ABCA4_000717" "g.94520733G>A" "1, 121386, 0, 0.000008238" "{PMID:Sciezynska 2015:26593885}" "" "p.Q841*" "" "Germline" "?" "" "0" "" "" "g.94055177G>A" "" "likely pathogenic" ""
"0000125460" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Sciezynska 2015:26593885}" "" "p.G1961E" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "pathogenic" ""
"0000125461" "0" "70" "1" "94466621" "94466627" "del" "0" "01695" "ABCA4_000837" "g.94466621_94466627del" "" "{PMID:Sciezynska 2015:26593885}" "" "p.R2107Cfs*6" "" "Germline" "?" "" "0" "" "" "g.94001065_94001071del" "" "likely pathogenic" ""
"0000125462" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Sciezynska 2015:26593885}" "" "p.G1961E" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000125463" "0" "70" "1" "94490585" "94490585" "subst" "0" "01695" "ABCA4_000067" "g.94490585T>C" "" "{PMID:Sciezynska 2015:26593885}" "" "p.E1520G" "" "Germline" "?" "" "0" "" "" "g.94025029T>C" "" "likely pathogenic" ""
"0000125464" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Sciezynska 2015:26593885}" "" "p.G1961E" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "pathogenic" ""
"0000125465" "1" "50" "1" "94568686" "94568686" "subst" "0.00258122" "01695" "ABCA4_000212" "g.94568686C>T" "" "{PMID:Sciezynska 2015:26593885}" "" "p.[(R152*; V2050L)]" "" "Germline" "?" "" "0" "" "" "g.94103130C>T" "" "VUS" ""
"0000125466" "1" "70" "1" "94467548" "94467548" "subst" "0.00295661" "01695" "ABCA4_000788" "g.94467548C>G" "" "{PMID:Sciezynska 2015:26593885}" "" "p.[(R152*; V2050L)]" "" "Germline" "?" "" "0" "" "" "g.94001992C>G" "" "likely pathogenic" ""
"0000125467" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Sciezynska 2015:26593885}" "" "p.G1961E" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "pathogenic" ""
"0000125468" "0" "70" "1" "94496571" "94496571" "subst" "4.06174E-6" "01695" "ABCA4_000111" "g.94496571G>A" "" "{PMID:Sciezynska 2015:26593885}" "" "p.Q1412*" "" "Germline" "?" "" "0" "" "" "g.94031015G>A" "" "likely pathogenic" ""
"0000125469" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Sciezynska 2015:26593885}" "" "p.G1961E" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000125470" "0" "70" "1" "94512518" "94512518" "subst" "1.62517E-5" "01695" "ABCA4_000687" "g.94512518T>C" "2, 121268, 0, 0.00001649" "{PMID:Sciezynska 2015:26593885}" "" "p.T959A" "" "Germline" "?" "" "0" "" "" "g.94046962T>C" "" "likely pathogenic" ""
"0000125471" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Sciezynska 2015:26593885}" "" "p.G1961E" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000125472" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Sciezynska 2015:26593885}" "" "p.G1961E" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000125473" "0" "90" "1" "94496571" "94496571" "subst" "4.06174E-6" "01695" "ABCA4_000111" "g.94496571G>A" "" "{PMID:Sciezynska 2015:26593885}" "" "p.Q1412*" "" "Germline" "-" "" "0" "" "" "g.94031015G>A" "" "pathogenic" ""
"0000125474" "0" "90" "1" "94466391" "94466391" "subst" "0" "01695" "ABCA4_000814" "g.94466391C>T" "" "{PMID:Sciezynska 2015:26593885}" "" "c.6479+1G>A" "" "Germline" "?" "" "0" "" "" "g.94000835C>T" "" "pathogenic" ""
"0000125475" "0" "70" "1" "94496571" "94496571" "subst" "4.06174E-6" "01695" "ABCA4_000111" "g.94496571G>A" "" "{PMID:Sciezynska 2015:26593885}" "" "p.Q1412*" "" "Germline" "-" "" "0" "" "" "g.94031015G>A" "" "likely pathogenic" ""
"0000125476" "0" "90" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "14, 120056, 0, 0.0001166" "{PMID:Sciezynska 2015:26593885}" "" "p.R212C" "" "Germline" "?" "" "0" "" "" "g.94098928G>A" "" "pathogenic" ""
"0000125477" "0" "70" "1" "94496571" "94496571" "subst" "4.06174E-6" "01695" "ABCA4_000111" "g.94496571G>A" "" "{PMID:Sciezynska 2015:26593885}" "" "p.Q1412*" "" "Germline" "-" "" "0" "" "" "g.94031015G>A" "" "likely pathogenic" ""
"0000125478" "0" "90" "1" "94508386" "94508386" "subst" "1.62443E-5" "01695" "ABCA4_000642" "g.94508386C>T" "4, 121376, 0, 0.00003296" "{PMID:Sciezynska 2015:26593885}" "" "p.E1087K" "" "Germline" "?" "" "0" "" "" "g.94042830C>T" "" "pathogenic" ""
"0000125479" "0" "70" "1" "94496571" "94496571" "subst" "4.06174E-6" "01695" "ABCA4_000111" "g.94496571G>A" "" "{PMID:Sciezynska 2015:26593885}" "" "p.Q1412*" "" "Germline" "-" "" "0" "" "" "g.94031015G>A" "" "likely pathogenic" ""
"0000125480" "0" "90" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "15, 121412, 0, 0.0001235" "{PMID:Sciezynska 2015:26593885}" "" "p.L541P" "" "Germline" "?" "" "0" "" "" "g.94063250A>G" "" "pathogenic" ""
"0000125481" "0" "50" "1" "94496571" "94496571" "subst" "4.06174E-6" "01695" "ABCA4_000111" "g.94496571G>A" "" "{PMID:Sciezynska 2015:26593885}" "" "p.Q1412*" "" "Germline" "-" "" "0" "" "" "g.94031015G>A" "" "VUS" ""
"0000125482" "0" "50" "1" "94496571" "94496571" "subst" "4.06174E-6" "01695" "ABCA4_000111" "g.94496571G>A" "" "{PMID:Sciezynska 2015:26593885}" "" "p.Q1412*" "" "Germline" "-" "" "0" "" "" "g.94031015G>A" "" "VUS" ""
"0000125483" "0" "50" "1" "94496571" "94496571" "subst" "4.06174E-6" "01695" "ABCA4_000111" "g.94496571G>A" "" "{PMID:Sciezynska 2015:26593885}" "" "p.Q1412*" "" "Germline" "-" "" "0" "" "" "g.94031015G>A" "" "VUS" ""
"0000125484" "1" "50" "1" "94568686" "94568686" "subst" "0.00258122" "01695" "ABCA4_000212" "g.94568686C>T" "" "{PMID:Sciezynska 2015:26593885}" "" "p.[(R152*; V2050L)]" "" "Germline" "-" "" "0" "" "" "g.94103130C>T" "" "VUS" ""
"0000125485" "1" "90" "1" "94467548" "94467548" "subst" "0.00295661" "01695" "ABCA4_000788" "g.94467548C>G" "" "{PMID:Sciezynska 2015:26593885}" "" "p.[(R152*; V2050L)]" "" "Germline" "-" "" "0" "" "" "g.94001992C>G" "" "pathogenic" ""
"0000125486" "0" "90" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "42, 120772, 0, 0.0003478" "{PMID:Sciezynska 2015:26593885}" "" "c.5714+5G>A" "" "Germline" "?" "" "0" "" "" "g.94010795C>T" "" "pathogenic" ""
"0000125487" "1" "50" "1" "94568686" "94568686" "subst" "0.00258122" "01695" "ABCA4_000212" "g.94568686C>T" "" "{PMID:Sciezynska 2015:26593885}" "" "p.[(R152*; V2050L)]" "" "Germline" "-" "" "0" "" "" "g.94103130C>T" "" "VUS" ""
"0000125488" "1" "90" "1" "94467548" "94467548" "subst" "0.00295661" "01695" "ABCA4_000788" "g.94467548C>G" "" "{PMID:Sciezynska 2015:26593885}" "" "p.[(R152*; V2050L)]" "" "Germline" "-" "" "0" "" "" "g.94001992C>G" "" "pathogenic" ""
"0000125489" "0" "90" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "42, 120772, 0, 0.0003478" "{PMID:Sciezynska 2015:26593885}" "" "c.5714+5G>A" "" "Germline" "?" "" "0" "" "" "g.94010795C>T" "" "pathogenic" ""
"0000125490" "1" "50" "1" "94568686" "94568686" "subst" "0.00258122" "01695" "ABCA4_000212" "g.94568686C>T" "" "{PMID:Sciezynska 2015:26593885}" "" "p.[(R152*; V2050L)]" "" "Germline" "-" "" "0" "" "" "g.94103130C>T" "" "VUS" ""
"0000125491" "1" "90" "1" "94467548" "94467548" "subst" "0.00295661" "01695" "ABCA4_000788" "g.94467548C>G" "" "{PMID:Sciezynska 2015:26593885}" "" "p.[(R152*; V2050L)]" "" "Germline" "-" "" "0" "" "" "g.94001992C>G" "" "pathogenic" ""
"0000125492" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Sciezynska 2015:26593885}" "" "p.G863A" "" "Germline" "?" "rs76157638" "0" "" "" "g.94051698C>G" "" "pathogenic" ""
"0000125493" "1" "50" "1" "94568686" "94568686" "subst" "0.00258122" "01695" "ABCA4_000212" "g.94568686C>T" "" "{PMID:Sciezynska 2015:26593885}" "" "p.[(R152*; V2050L)]" "" "Germline" "-" "" "0" "" "" "g.94103130C>T" "" "VUS" ""
"0000125494" "1" "70" "1" "94467548" "94467548" "subst" "0.00295661" "01695" "ABCA4_000788" "g.94467548C>G" "" "{PMID:Sciezynska 2015:26593885}" "" "p.[(R152*; V2050L)]" "" "Germline" "-" "" "0" "" "" "g.94001992C>G" "" "likely pathogenic" ""
"0000125495" "0" "90" "1" "94466425" "94466425" "subst" "0" "01695" "ABCA4_000819" "g.94466425C>A" "" "{PMID:Sciezynska 2015:26593885}" "" "p.R2149L" "" "Germline" "?" "" "0" "" "" "g.94000869C>A" "" "pathogenic" ""
"0000125496" "1" "50" "1" "94568686" "94568686" "subst" "0.00258122" "01695" "ABCA4_000212" "g.94568686C>T" "" "{PMID:Sciezynska 2015:26593885}" "" "p.[(R152*; V2050L)]" "" "Germline" "-" "" "0" "" "" "g.94103130C>T" "" "VUS" ""
"0000125497" "1" "50" "1" "94467548" "94467548" "subst" "0.00295661" "01695" "ABCA4_000788" "g.94467548C>G" "" "{PMID:Sciezynska 2015:26593885}" "" "p.[(R152*; V2050L)]" "" "Germline" "-" "" "0" "" "" "g.94001992C>G" "" "VUS" ""
"0000125498" "0" "90" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "14, 120056, 0, 0.0001166" "{PMID:Sciezynska 2015:26593885}" "" "p.R212C" "" "Germline" "-" "" "0" "" "" "g.94098928G>A" "" "pathogenic" ""
"0000125499" "0" "70" "1" "94490606" "94490606" "subst" "4.06091E-6" "01695" "ABCA4_000086" "g.94490606T>C" "" "{PMID:Sciezynska 2015:26593885}" "" "c.4540-2A>G" "" "Germline" "?" "" "0" "" "" "g.94025050T>C" "" "likely pathogenic" ""
"0000125500" "0" "90" "1" "94481294" "94481294" "subst" "0" "01695" "ABCA4_000110" "g.94481294C>T" "" "{PMID:Sciezynska 2015:26593885}" "" "c.5312+1G>A" "" "Germline" "-" "" "0" "" "" "g.94015738C>T" "" "pathogenic" ""
"0000125501" "0" "90" "1" "94486942" "94486942" "subst" "0" "01695" "ABCA4_000061" "g.94486942C>T" "" "{PMID:Sciezynska 2015:26593885}" "" "p.W1624*" "" "Germline" "?" "" "0" "" "" "g.94021386C>T" "" "pathogenic" ""
"0000125502" "0" "50" "1" "94481294" "94481294" "subst" "0" "01695" "ABCA4_000110" "g.94481294C>T" "" "{PMID:Sciezynska 2015:26593885}" "" "c.5312+1G>A" "" "Germline" "-" "" "0" "" "" "g.94015738C>T" "" "VUS" ""
"0000125503" "3" "90" "1" "94481294" "94481294" "subst" "0" "01695" "ABCA4_000110" "g.94481294C>T" "" "{PMID:Sciezynska 2015:26593885}" "" "c.5714+5G>A" "" "Germline" "?" "" "0" "" "" "g.94015738C>T" "" "pathogenic" ""
"0000125504" "0" "50" "1" "94471055" "94471055" "subst" "0.00035346" "01695" "ABCA4_000029" "g.94471055C>T" "47, 121404, 1, 0.0003871" "{PMID:Sciezynska 2015:26593885}" "" "p.R2030Q" "" "Germline" "-" "" "0" "" "" "g.94005499C>T" "" "VUS" ""
"0000125505" "0" "50" "1" "94471055" "94471055" "subst" "0.00035346" "01695" "ABCA4_000029" "g.94471055C>T" "47, 121404, 1, 0.0003871" "{PMID:Sciezynska 2015:26593885}" "" "p.R2030Q" "" "Germline" "-" "" "0" "" "" "g.94005499C>T" "" "VUS" ""
"0000125506" "3" "70" "1" "94546111" "94546111" "subst" "0" "01695" "ABCA4_000340" "g.94546111T>C" "" "{PMID:Sciezynska 2015:26593885}" "" "p.E341G" "" "Germline" "?" "" "0" "" "" "g.94080555T>C" "" "likely pathogenic" ""
"0000125507" "0" "90" "1" "94471026" "94471026" "subst" "1.21925E-5" "01695" "ABCA4_000791" "g.94471026G>A" "2, 121394, 0, 0.00001648" "{PMID:Sciezynska 2015:26593885}" "" "p.R2040*" "" "Germline" "-" "" "0" "" "" "g.94005470G>A" "" "pathogenic" ""
"0000125508" "0" "90" "1" "94480098" "94480098" "subst" "0" "01695" "ABCA4_000437" "g.94480098C>T" "" "{PMID:Sciezynska 2015:26593885}" "" "c.5460+1G>A" "" "Germline" "?" "" "0" "" "" "g.94014542C>T" "" "pathogenic" ""
"0000125509" "0" "70" "1" "94485137" "94485137" "subst" "0" "01695" "ABCA4_000464" "g.94485137C>T" "3, 49858, 0, 0.00006017" "{PMID:Sciezynska 2015:26593885}" "" "c.5196+1G>A" "" "Germline" "-" "" "0" "" "" "g.94019581C>T" "" "likely pathogenic" ""
"0000125510" "0" "90" "1" "94520793" "94520793" "subst" "8.13292E-6" "01695" "ABCA4_000723" "g.94520793A>T" "1, 121346, 0, 0.000008241" "{PMID:Sciezynska 2015:26593885}" "" "p.W821R" "" "Germline" "?" "" "0" "" "" "g.94055237A>T" "" "pathogenic" ""
"0000125511" "0" "70" "1" "94526296" "94526296" "subst" "1.64555E-5" "01695" "ABCA4_000768" "g.94526296G>A" "1, 96614, 0, 0.00001035" "{PMID:Sciezynska 2015:26593885}" "" "p.R653C" "" "Germline" "-" "" "0" "" "" "g.94060740G>A" "" "likely pathogenic" ""
"0000125512" "0" "70" "1" "94528680" "94528680" "subst" "0" "01695" "ABCA4_000064" "g.94528680T>A" "" "{PMID:Sciezynska 2015:26593885}" "" "p.K583M" "" "Germline" "?" "" "0" "" "" "g.94063124T>A" "" "likely pathogenic" ""
"0000125513" "1" "70" "1" "94502756" "94502756" "subst" "0.000422575" "01695" "ABCA4_000032" "g.94502756G>A" "" "{PMID:Sciezynska 2015:26593885}" "" "p.[T1253M; p.G1961E]" "" "Germline" "-" "" "0" "" "" "g.94037200G>A" "" "likely pathogenic" ""
"0000125514" "1" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sciezynska 2015:26593885}" "" "p.[T1253M; p.G1961E]" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000125515" "0" "70" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Sciezynska 2015:26593885}" "" "c.5461-10T>C" "" "Germline" "?" "" "0" "" "" "g.94011395A>G" "" "likely pathogenic" ""
"0000125516" "0" "50" "1" "94526230" "94526230" "subst" "7.32136E-5" "01695" "ABCA4_000760" "g.94526230C>T" "6, 120152, 0, 0.00004994" "{PMID:Sciezynska 2015:26593885}" "" "p.V675I" "" "Germline" "-" "" "0" "" "" "g.94060674C>T" "" "VUS" ""
"0000125517" "0" "70" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Sciezynska 2015:26593885}" "" "c.5461-10T>C" "" "Germline" "?" "" "0" "" "" "g.94011395A>G" "" "likely pathogenic" ""
"0000125518" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "15, 121412, 0, 0.0001235" "{PMID:Sciezynska 2015:26593885}" "" "p.L541P" "" "Germline" "-" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000125519" "0" "50" "1" "94528142" "94528142" "subst" "0.00153303" "01695" "ABCA4_000125" "g.94528142A>C" "163, 121098, 1, 0.001346" "{PMID:Sciezynska 2015:26593885}" "" "p.V643G" "" "Germline" "-" "" "0" "" "" "g.94062586A>C" "" "VUS" ""
"0000125520" "0" "50" "1" "94520690" "94520690" "subst" "2.03102E-5" "01695" "ABCA4_000149" "g.94520690C>T" "4, 121342, 0, 0.00003296" "{PMID:Sciezynska 2015:26593885}" "" "p.W855*" "" "Germline" "-" "" "0" "" "" "g.94055134C>T" "" "VUS" ""
"0000125521" "0" "50" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Allikmets 1998:9666097}" "" "G863A" "" "Germline" "-" "rs76157638" "0" "" "" "g.94051698C>G" "" "VUS" ""
"0000125522" "0" "50" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Allikmets 1998:9666097}" "" "G863A" "" "Germline" "-" "rs76157638" "0" "" "" "g.94051698C>G" "" "VUS" ""
"0000125523" "0" "50" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Allikmets 1998:9666097}" "" "G863A" "" "Germline" "-" "rs76157638" "0" "" "" "g.94051698C>G" "" "VUS" ""
"0000125524" "0" "50" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Allikmets 1998:9666097}" "" "G863A" "" "Germline" "-" "rs76157638" "0" "" "" "g.94051698C>G" "" "VUS" ""
"0000125525" "0" "50" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Allikmets 1998:9666097}" "" "G863A" "" "Germline" "-" "rs76157638" "0" "" "" "g.94051698C>G" "" "VUS" ""
"0000125526" "0" "50" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Allikmets 1998:9666097}" "" "G863A" "" "Germline" "-" "rs76157638" "0" "" "" "g.94051698C>G" "" "VUS" ""
"0000125527" "0" "50" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Allikmets 1998:9666097}" "" "G863A" "" "Germline" "-" "rs76157638" "0" "" "" "g.94051698C>G" "" "VUS" ""
"0000125528" "0" "50" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Allikmets 1998:9666097}" "" "G863A" "" "Germline" "-" "rs76157638" "0" "" "" "g.94051698C>G" "" "VUS" ""
"0000125529" "0" "50" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Allikmets 1998:9666097}" "" "G863A" "" "Germline" "-" "rs76157638" "0" "" "" "g.94051698C>G" "" "VUS" ""
"0000125530" "0" "50" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Allikmets 1998:9666097}" "" "G863A" "" "Germline" "-" "rs76157638" "0" "" "" "g.94051698C>G" "" "VUS" ""
"0000125531" "0" "50" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Allikmets 1998:9666097}" "" "G863A" "" "Germline" "-" "rs76157638" "0" "" "" "g.94051698C>G" "" "VUS" ""
"0000125532" "0" "50" "1" "94496547" "94496547" "subst" "4.06345E-6" "01695" "ABCA4_000559" "g.94496547C>A" "1, 120798, 0, 0.000008278" "{PMID:Allikmets 1998:9666097}" "" "4253+5G/T" "" "Germline" "-" "" "0" "" "" "g.94030991C>A" "" "VUS" ""
"0000125533" "0" "50" "1" "94485136" "94485136" "subst" "0" "01695" "ABCA4_000189" "g.94485136A>G" "" "{PMID:Allikmets 1998:9666097}" "" "5196+2T/C" "" "Germline" "-" "" "0" "" "" "g.94019580A>G" "" "VUS" ""
"0000125534" "0" "50" "1" "94476486" "94476486" "subst" "0" "01695" "ABCA4_000423" "g.94476486C>T" "-" "{PMID:Allikmets 1998:9666097}" "" "55851G/A" "" "Germline" "-" "" "0" "" "" "g.94010930C>T" "" "VUS" ""
"0000125535" "0" "50" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "42, 120772, 0, 0.0003478" "{PMID:Allikmets 1998:9666097}" "" "5714+5G/A" "" "Germline" "-" "" "0" "" "" "g.94010795C>T" "" "VUS" ""
"0000125536" "0" "50" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "42, 120772, 0, 0.0003478" "{PMID:Allikmets 1998:9666097}" "" "5714+5G/A" "" "Germline" "-" "" "0" "" "" "g.94010795C>T" "" "VUS" ""
"0000125537" "0" "50" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "42, 120772, 0, 0.0003478" "{PMID:Allikmets 1998:9666097}" "" "5714+5G/A" "" "Germline" "-" "" "0" "" "" "g.94010795C>T" "" "VUS" ""
"0000125538" "0" "50" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "42, 120772, 0, 0.0003478" "{PMID:Allikmets 1998:9666097}" "" "5714+5G/A" "" "Germline" "-" "" "0" "" "" "g.94010795C>T" "" "VUS" ""
"0000125539" "0" "50" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "42, 120772, 0, 0.0003478" "{PMID:Allikmets 1998:9666097}" "" "5714+5G/A" "" "Germline" "-" "" "0" "" "" "g.94010795C>T" "" "VUS" ""
"0000125540" "0" "50" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "42, 120772, 0, 0.0003478" "{PMID:Allikmets 1998:9666097}" "" "5714+5G/A" "" "Germline" "-" "" "0" "" "" "g.94010795C>T" "" "VUS" ""
"0000125541" "0" "50" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "42, 120772, 0, 0.0003478" "{PMID:Allikmets 1998:9666097}" "" "5714+5G/A" "" "Germline" "-" "" "0" "" "" "g.94010795C>T" "" "VUS" ""
"0000125542" "0" "50" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "42, 120772, 0, 0.0003478" "{PMID:Allikmets 1998:9666097}" "" "5714+5G/A" "" "Germline" "-" "" "0" "" "" "g.94010795C>T" "" "VUS" ""
"0000125543" "0" "50" "1" "94473790" "94473790" "subst" "0" "01695" "ABCA4_000400" "g.94473790C>A" "" "{PMID:Allikmets 1998:9666097}" "" "5898+1G/T" "" "Germline" "-" "" "0" "" "" "g.94008234C>A" "" "VUS" ""
"0000125544" "0" "50" "1" "94473790" "94473790" "subst" "0" "01695" "ABCA4_000400" "g.94473790C>A" "" "{PMID:Allikmets 1998:9666097}" "" "5898+1G/T" "" "Germline" "-" "" "0" "" "" "g.94008234C>A" "" "VUS" ""
"0000125545" "0" "50" "1" "94473790" "94473790" "subst" "0" "01695" "ABCA4_000400" "g.94473790C>A" "" "{PMID:Allikmets 1998:9666097}" "" "5898+1G/T" "" "Germline" "-" "" "0" "" "" "g.94008234C>A" "" "VUS" ""
"0000125546" "0" "50" "1" "94473189" "94473189" "subst" "0" "01695" "ABCA4_000385" "g.94473189C>A" "" "{PMID:Allikmets 1998:9666097}" "" "6005+1G/T" "" "Germline" "-" "" "0" "" "" "g.94007633C>A" "" "VUS" ""
"0000125547" "0" "50" "1" "94467548" "94467548" "subst" "0.00295661" "01695" "ABCA4_000788" "g.94467548C>G" "334, 121350, 0, 0.002752" "{PMID:Allikmets 1998:9666097}" "" "V2050L" "" "Germline" "-" "" "0" "" "" "g.94001992C>G" "" "VUS" ""
"0000125548" "0" "50" "1" "94467548" "94467548" "subst" "0.00295661" "01695" "ABCA4_000788" "g.94467548C>G" "334, 121350, 0, 0.002752" "{PMID:Allikmets 1998:9666097}" "" "V2050L" "" "Germline" "-" "" "0" "" "" "g.94001992C>G" "" "VUS" ""
"0000125549" "3" "50" "1" "94576990" "94576990" "subst" "0" "01695" "ABCA4_000221" "g.94576990T>G" "-" "{PMID:Siemiatkowska 2011:22128245}" "" "c.302+4A>C" "" "Germline" "?" "" "0" "" "" "g.94111434T>G" "" "VUS" ""
"0000125550" "3" "50" "1" "94576990" "94576990" "subst" "0" "01695" "ABCA4_000221" "g.94576990T>G" "-" "{PMID:Siemiatkowska 2011:22128245}" "" "c.302+4A>C" "" "Germline" "?" "" "0" "" "" "g.94111434T>G" "" "VUS" ""
"0000125551" "10" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Duncker 2015:26551331}, {PMID:Duncker 2015:25283059}" "" "p.G863A" "" "Germline" "-" "rs76157638" "0" "" "" "g.94051698C>G" "" "pathogenic" ""
"0000125552" "21" "90" "1" "94473790" "94473790" "subst" "0" "01695" "ABCA4_000399" "g.94473790C>T" "" "{PMID:Duncker 2015:26551331}, {PMID:Duncker 2015:25283059}" "" "c.5898+1G>A" "" "Germline" "?" "" "0" "" "" "g.94008234C>T" "" "pathogenic" ""
"0000125553" "21" "70" "1" "94520690" "94520690" "subst" "2.03102E-5" "01695" "ABCA4_000149" "g.94520690C>T" "4, 121342, 0, 0.00003296" "{PMID:Duncker 2015:26551331}" "" "p.W855*" "" "Germline" "-" "" "0" "" "" "g.94055134C>T" "" "likely pathogenic" ""
"0000125554" "11" "90" "1" "94490567" "94490567" "subst" "5.68528E-5" "01695" "ABCA4_000026" "g.94490567G>A" "4, 121406, 0, 0.00003295" "{PMID:Duncker 2015:26551331}" "" "p.T1526M" "" "Germline" "?" "" "0" "" "" "g.94025011G>A" "" "pathogenic" ""
"0000125555" "0" "50" "1" "94490567" "94490567" "subst" "5.68528E-5" "01695" "ABCA4_000026" "g.94490567G>A" "4, 121406, 0, 0.00003295" "{PMID:Duncker 2015:26551331}" "" "p.T1526M" "" "Germline" "-" "" "0" "" "" "g.94025011G>A" "" "VUS" ""
"0000125556" "10" "70" "1" "94485137" "94485137" "subst" "0" "01695" "ABCA4_000464" "g.94485137C>T" "3, 49858, 0, 0.00006017" "{PMID:Duncker 2015:26551331}" "" "c.5196+1G>A" "" "Germline" "-" "" "0" "" "" "g.94019581C>T" "" "likely pathogenic" ""
"0000125557" "21" "90" "1" "94463443" "94463443" "subst" "0" "01695" "ABCA4_000798" "g.94463443A>G" "-" "{PMID:Duncker 2015:26551331}" "" "p.S2235P" "" "Germline" "?" "" "0" "" "" "g.93997887A>G" "" "pathogenic" ""
"0000125558" "21" "90" "1" "94577135" "94577135" "subst" "2.43718E-5" "01695" "ABCA4_000240" "g.94577135C>T" "2, 121210, 0, 0.0000165" "{PMID:Duncker 2015:26551331}" "" "p.C54Y" "" "Germline" "-" "" "0" "" "" "g.94111579C>T" "" "pathogenic" ""
"0000125559" "11" "90" "1" "94484001" "94484001" "subst" "0" "01695" "ABCA4_000016" "g.94484001C>T" "-" "{PMID:Duncker 2015:26551331}" "" "c.5196+1137G>A" "" "Germline" "yes" "" "0" "" "" "g.94018445C>T" "" "pathogenic" ""
"0000125560" "1" "50" "1" "94586536" "94586536" "subst" "0" "01695" "ABCA4_000255" "g.94586536C>T" "" "{PMID:Duncker 2015:26551331}" "" "c.[66G>A;859-9T>C]" "" "Germline" "-" "" "0" "" "" "g.94120980C>T" "" "VUS" ""
"0000125561" "1" "90" "1" "94546283" "94546283" "subst" "8.18311E-5" "01695" "ABCA4_000356" "g.94546283A>G" "-" "{PMID:Duncker 2015:26551331}" "" "c.[66G>A;859-9T>C]" "" "Germline" "-" "" "0" "" "" "g.94080727A>G" "" "pathogenic" ""
"0000125562" "0" "90" "1" "94463488" "94463488" "subst" "5.2803E-5" "01695" "ABCA4_000802" "g.94463488G>A" "6, 121316, 0, 0.00004946" "{PMID:Duncker 2015:26551331}" "" "p.Q2220*" "" "Germline" "?" "" "0" "" "" "g.93997932G>A" "" "pathogenic" ""
"0000125563" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Duncker 2015:26551331}" "" "p.G1961E" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000125564" "0" "70" "1" "94510164" "94510164" "subst" "1.62441E-5" "01695" "ABCA4_000144" "g.94510164C>T" "2, 121386, 0, 0.00001648" "{PMID:Duncker 2015:26551331}" "" "c.3050+5G>A" "" "Germline" "?" "" "0" "" "" "g.94044608C>T" "" "likely pathogenic" ""
"0000125565" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Duncker 2015:26551331}" "" "p.G1961E" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000125566" "0" "70" "1" "94510164" "94510164" "subst" "1.62441E-5" "01695" "ABCA4_000144" "g.94510164C>T" "2, 121386, 0, 0.00001648" "{PMID:Duncker 2015:26551331}" "" "c.3050+5G>A" "" "Germline" "?" "" "0" "" "" "g.94044608C>T" "" "likely pathogenic" ""
"0000125567" "11" "50" "1" "94510253" "94510253" "subst" "0.000247694" "01695" "ABCA4_000108" "g.94510253A>G" "36, 121412, 0, 0.0002965" "{PMID:Duncker 2015:26551331}" "" "p.V989A" "" "Germline" "-" "" "0" "" "" "g.94044697A>G" "" "VUS" ""
"0000125568" "20" "70" "1" "94496547" "94496547" "subst" "4.06345E-6" "01695" "ABCA4_000559" "g.94496547C>A" "1, 120798, 0, 0.000008278" "{PMID:Duncker 2015:26551331}" "" "c.4253+5G>T" "" "Germline" "?" "" "0" "" "" "g.94030991C>A" "" "likely pathogenic" ""
"0000125569" "10" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "173, 121304, 0, 0.001426" "{PMID:Duncker 2015:26551331}" "" "p.A1038V" "" "Germline" "-" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic" ""
"0000125570" "21" "30" "1" "94496014" "94496014" "subst" "0" "01695" "ABCA4_000550" "g.94496014C>T" "-" "{PMID:Duncker 2015:26551331}" "" "p.G1441D" "" "Germline" "?" "" "0" "" "" "g.94030458C>T" "" "likely benign" ""
"0000125571" "11" "90" "1" "94481294" "94481294" "subst" "0" "01695" "ABCA4_000110" "g.94481294C>T" "" "{PMID:Duncker 2015:26551331}" "" "c.5312+1G>A" "" "Germline" "-" "" "0" "" "" "g.94015738C>T" "" "pathogenic" ""
"0000125572" "21" "90" "1" "94471056" "94471056" "subst" "2.84398E-5" "01695" "ABCA4_000050" "g.94471056G>A" "3, 121402, 0, 0.00002471" "{PMID:Duncker 2015:26551331}" "" "p.R2030*" "" "Germline" "?" "" "0" "" "" "g.94005500G>A" "" "pathogenic" ""
"0000125573" "11" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "-" "{PMID:Duncker 2015:26551331}" "" "p.[L541P;A1038V]" "" "Germline" "-" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000125574" "11" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "-" "{PMID:Duncker 2015:26551331}" "" "p.[L541P;A1038V]" "" "Germline" "-" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic" ""
"0000125575" "21" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "26, 121404, 0, 0.0002142" "{PMID:Duncker 2015:26551331}" "" "p.L2027F" "" "Germline" "yes" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic" ""
"0000125576" "11" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "-" "{PMID:Duncker 2015:26551331}" "" "p.[L541P;A1038V]" "" "Germline" "-" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000125577" "11" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "-" "{PMID:Duncker 2015:26551331}" "" "p.[L541P;A1038V]" "" "Germline" "-" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic" ""
"0000125578" "21" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "26, 121404, 0, 0.0002142" "{PMID:Duncker 2015:26551331}" "" "p.L2027F" "" "Germline" "yes" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic" ""
"0000125579" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Duncker 2015:26551331}" "" "p.G1961E" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "pathogenic" ""
"0000125580" "0" "70" "1" "94484082" "94484082" "subst" "0" "01695" "ABCA4_000028" "g.94484082T>C" "-" "{PMID:Duncker 2015:26551331}" "" "c.5196+1056A>G" "" "Germline" "?" "" "0" "" "" "g.94018526T>C" "" "likely pathogenic" ""
"0000125581" "0" "50" "1" "94577046" "94577049" "dup" "0" "01695" "ABCA4_000227" "g.94577046_94577049dup" "-" "{PMID:Duncker 2015:26551331}" "" "c.247_250dup" "" "Germline" "-" "" "0" "" "" "g.94111490_94111493dup" "" "VUS" ""
"0000125582" "21" "30" "1" "94528851" "94528851" "subst" "0" "01695" "ABCA4_000303" "g.94528851T>G" "-" "{PMID:Duncker 2015:26551331}" "" "p.E526A" "" "Germline" "-" "" "0" "" "" "g.94063295T>G" "" "likely benign" ""
"0000125583" "10" "70" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "227, 121250, 3, 0.001872" "{PMID:Duncker 2015:26551331}" "" "p.R2107H" "" "Germline" "?" "" "0" "" "" "g.94001068C>T" "" "likely pathogenic" ""
"0000125584" "21" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "-" "{PMID:Duncker 2015:26551331}" "" "p.[L541P;A1038V]" "" "Germline" "-" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000125585" "21" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "-" "{PMID:Duncker 2015:26551331}" "" "p.[L541P;A1038V]" "" "Germline" "-" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic" ""
"0000125586" "11" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Duncker 2015:26551331}" "" "p.G1961E" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000125587" "0" "90" "1" "94512580" "94512580" "subst" "2.8431E-5" "01695" "ABCA4_000695" "g.94512580A>G" "5, 121110, 0, 0.00004128" "{PMID:Duncker 2015:26551331}" "" "p.F938S" "On its own not significantely found more often in published STGD compared to ExAC (p-value 0.29). However, together with other non-significant variants published related to STGD, they are significantly more often in STGD patients (p-value <0.01)." "Germline" "-" "" "0" "" "" "g.94047024A>G" "" "pathogenic" ""
"0000125588" "0" "70" "1" "94497564" "94497564" "subst" "1.64383E-5" "01695" "ABCA4_000091" "g.94497564G>A" "4, 118564, 0, 0.00003374" "{PMID:Duncker 2015:26551331}" "" "p.R1300*" "" "Germline" "?" "" "0" "" "" "g.94032008G>A" "" "likely pathogenic" ""
"0000125589" "20" "50" "1" "94522239" "94522239" "subst" "2.03305E-5" "01695" "ABCA4_000736" "g.94522239A>T" "-" "{PMID:Duncker 2015:26551331}" "" "p.[Y245*;V767D]" "" "Germline" "-" "" "0" "" "" "g.94056683A>T" "" "VUS" ""
"0000125590" "20" "50" "1" "94564383" "94564383" "subst" "0" "01695" "ABCA4_000371" "g.94564383A>C" "" "{PMID:Duncker 2015:26551331}" "" "p.[Y245*;V767D]" "" "Germline" "-" "" "0" "" "" "g.94098827A>C" "" "VUS" ""
"0000125591" "21" "70" "1" "94506935" "94506935" "subst" "4.06098E-6" "01695" "ABCA4_000626" "g.94506935G>A" "1, 121380, 0, 0.000008239" "{PMID:Duncker 2015:26551331}" "" "p.H1118Y" "" "Germline" "-" "" "0" "" "" "g.94041379G>A" "" "likely pathogenic" ""
"0000125592" "10" "70" "1" "94496583" "94496583" "subst" "2.03092E-5" "01695" "ABCA4_000190" "g.94496583A>G" "" "{PMID:Duncker 2015:26551331}" "" "p.[W1408R;R1640W]" "" "Germline" "?" "" "0" "" "" "g.94031027A>G" "" "likely pathogenic" ""
"0000125593" "10" "70" "1" "94486896" "94486896" "subst" "3.65562E-5" "01695" "ABCA4_000085" "g.94486896G>A" "-" "{PMID:Duncker 2015:26551331}" "" "p.[W1408R;R1640W]" "" "Germline" "?" "" "0" "" "" "g.94021340G>A" "" "likely pathogenic" ""
"0000125594" "0" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "12, 60116, 0, 0.0001996" "{PMID:Duncker 2015:26551331}" "" "p.C1490Y" "" "Germline" "-" "" "0" "" "" "g.94029515C>T" "" "likely pathogenic" ""
"0000125595" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Duncker 2015:26551331}" "" "p.G1961E" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000125596" "21" "90" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "24, 119274, 0, 0.0002012" "{PMID:Duncker 2015:26551331}" "" "p.P1380L" "" "Germline" "-" "" "0" "" "" "g.94031110G>A" "" "pathogenic" ""
"0000125597" "10" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "42, 120772, 0, 0.0003478" "{PMID:Duncker 2015:26551331}" "" "c.5714+5G>A" "" "Germline" "?" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic" ""
"0000125598" "21" "90" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "24, 119274, 0, 0.0002012" "{PMID:Duncker 2015:26551331}" "" "p.P1380L" "" "Germline" "-" "" "0" "" "" "g.94031110G>A" "" "pathogenic" ""
"0000125599" "10" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "42, 120772, 0, 0.0003478" "{PMID:Duncker 2015:26551331}" "" "c.5714+5G>A" "" "Germline" "?" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic" ""
"0000125600" "21" "70" "1" "94488970" "94488970" "subst" "0" "01695" "ABCA4_000516" "g.94488970T>A" "-" "{PMID:Duncker 2015:26551331}" "" "p.K1547*" "" "Germline" "-" "" "0" "" "" "g.94023414T>A" "" "likely pathogenic" ""
"0000125601" "11" "90" "1" "94471055" "94471055" "subst" "0.00035346" "01695" "ABCA4_000029" "g.94471055C>T" "47, 121404, 1, 0.0003871" "{PMID:Duncker 2015:26551331}" "" "p.R2030Q" "" "Germline" "?" "" "0" "" "" "g.94005499C>T" "" "pathogenic" ""
"0000125602" "0" "90" "1" "94577135" "94577135" "subst" "2.43718E-5" "01695" "ABCA4_000240" "g.94577135C>T" "2, 121210, 0, 0.0000165" "{PMID:Duncker 2015:26551331}" "" "p.C54Y" "" "Germline" "-" "" "0" "" "" "g.94111579C>T" "" "pathogenic" ""
"0000125603" "11" "70" "1" "94544895" "94544895" "subst" "1.62455E-5" "01695" "ABCA4_000329" "g.94544895G>A" "3, 121410, 0, 0.00002471" "{PMID:Duncker 2015:26551331}" "" "p.R408*" "" "Germline" "-" "" "0" "" "" "g.94079339G>A" "" "likely pathogenic" ""
"0000125604" "20" "90" "1" "94496558" "94496560" "del" "0" "01695" "ABCA4_000561" "g.94496558_94496560del" "-" "{PMID:Duncker 2015:26551331}" "" "c.4248_4250del" "" "Germline" "?" "" "0" "" "" "g.94031002_94031004del" "" "pathogenic" ""
"0000125605" "11" "70" "1" "94544895" "94544895" "subst" "1.62455E-5" "01695" "ABCA4_000329" "g.94544895G>A" "3, 121410, 0, 0.00002471" "{PMID:Duncker 2015:26551331}" "" "p.R408*" "" "Germline" "-" "" "0" "" "" "g.94079339G>A" "" "likely pathogenic" ""
"0000125606" "20" "90" "1" "94496558" "94496560" "del" "0" "01695" "ABCA4_000561" "g.94496558_94496560del" "-" "{PMID:Duncker 2015:26551331}" "" "c.4248_4250del" "" "Germline" "?" "" "0" "" "" "g.94031002_94031004del" "" "pathogenic" ""
"0000125607" "11" "70" "1" "94512500" "94512500" "subst" "0" "01695" "ABCA4_000685" "g.94512500T>A" "-" "{PMID:Duncker 2015:26551331}" "" "p.N965Y" "" "Germline" "-" "" "0" "" "" "g.94046944T>A" "" "likely pathogenic" ""
"0000125608" "21" "70" "1" "94495083" "94495083" "subst" "0.000124542" "01695" "ABCA4_000542" "g.94495083G>A" "11, 77176, 0, 0.0001425" "{PMID:Duncker 2015:26551331}" "" "p.P1486L" "" "Germline" "yes" "" "0" "" "" "g.94029527G>A" "" "likely pathogenic" ""
"0000125609" "3" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Duncker 2015:25283059}" "" "p.G1961E" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000125610" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Duncker 2015:25283059}" "" "p.G1961E" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000125611" "0" "70" "1" "94506902" "94506902" "subst" "1.21834E-5" "01695" "ABCA4_000623" "g.94506902G>A" "2, 121396, 0, 0.00001648" "{PMID:Duncker 2015:25283059}" "" "p.R1129C" "" "Germline" "?" "" "0" "" "" "g.94041346G>A" "" "likely pathogenic" ""
"0000125612" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Duncker 2015:25283059}" "" "p.G1961E" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "pathogenic" ""
"0000125613" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Duncker 2015:25283059}" "" "p.G863A" "" "Germline" "?" "rs76157638" "0" "" "" "g.94051698C>G" "" "likely pathogenic" ""
"0000125614" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Duncker 2015:25283059}" "" "p.G1961E" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000125615" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "15, 121412, 0, 0.0001235" "{PMID:Duncker 2015:25283059}" "" "p.L541P" "" "Germline" "?" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000125616" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Duncker 2015:25283059}" "" "p.G1961E" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000125617" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "24, 119274, 0, 0.0002012" "{PMID:Duncker 2015:25283059}" "" "p.P1380L" "" "Germline" "?" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic" ""
"0000125618" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Duncker 2015:25283059}" "" "p.G1961E" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000125619" "0" "70" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "14, 120056, 0, 0.0001166" "{PMID:Duncker 2015:25283059}" "" "p.R212C" "" "Germline" "?" "" "0" "" "" "g.94098928G>A" "" "likely pathogenic" ""
"0000125620" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "-" "{PMID:Duncker 2015:25283059}" "" "p.[L541P; A1038V]" "" "Germline" "-" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000125621" "1" "50" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "-" "{PMID:Duncker 2015:25283059}" "" "p.[L541P; A1038V]" "" "Germline" "-" "" "0" "" "" "g.94043413G>A" "" "VUS" ""
"0000125622" "0" "30" "1" "94577046" "94577049" "dup" "0" "01695" "ABCA4_000227" "g.94577046_94577049dup" "-" "{PMID:Duncker 2015:25283059}" "" "p.S84fs" "" "Germline" "-" "" "0" "" "" "g.94111490_94111493dup" "" "likely benign" ""
"0000125623" "0" "90" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "227, 121250, 3, 0.001872" "{PMID:Duncker 2015:25283059}" "" "p.R2107H" "" "Germline" "?" "" "0" "" "" "g.94001068C>T" "" "pathogenic" ""
"0000125624" "0" "70" "1" "94497564" "94497564" "subst" "1.64383E-5" "01695" "ABCA4_000091" "g.94497564G>A" "4, 118564, 0, 0.00003374" "{PMID:Duncker 2015:25283059}" "" "p.R1300*" "" "Germline" "-" "" "0" "" "" "g.94032008G>A" "" "likely pathogenic" ""
"0000125625" "0" "90" "1" "94466628" "94466628" "subst" "0.000109748" "01695" "ABCA4_000094" "g.94466628G>A" "14, 121222, 0, 0.0001155" "{PMID:Duncker 2015:25283059}" "" "p.R2106C" "" "Germline" "?" "" "0" "" "" "g.94001072G>A" "" "pathogenic" ""
"0000125626" "0" "70" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:van Huet 2014:25324290}" "" "c.5461-10T>C" "" "Germline" "-" "" "0" "" "" "g.94011395A>G" "" "likely pathogenic" ""
"0000125627" "0" "50" "1" "94476865" "94476865" "subst" "2.03107E-5" "01695" "ABCA4_000430" "g.94476865A>G" "3, 121186, 0, 0.00002476" "{PMID:van Huet 2014:25324290}" "" "c.5537T>C" "" "Germline" "?" "" "0" "" "" "g.94011309A>G" "" "VUS" ""
"0000125628" "0" "70" "1" "94528248" "94528248" "subst" "1.22148E-5" "01695" "ABCA4_000279" "g.94528248A>T" "1, 119894, 0, 0.000008341" "{PMID:van Huet 2014:25324290}" "" "c.1822T>A" "" "Germline" "-" "" "0" "" "" "g.94062692A>T" "" "likely pathogenic" ""
"0000125629" "0" "70" "1" "94487490" "94487490" "subst" "0.00122268" "01695" "ABCA4_000506" "g.94487490A>G" "158, 121114, 0, 0.001305" "{PMID:van Huet 2014:25324290}" "" "c.4685T>C" "On its own not significantely found more often in published STGD compared to ExAC (p-value 0.92). However, together with other non-significant variants published related to STGD, they are significantly more often in STGD patients (p-value <0.01)." "Germline" "?" "" "0" "" "" "g.94021934A>G" "" "likely pathogenic" ""
"0000125630" "0" "50" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:van Huet 2014:25324290}" "" "c.5461-10T>C" "" "Germline" "-" "" "0" "" "" "g.94011395A>G" "" "VUS" ""
"0000125631" "0" "50" "1" "94528248" "94528248" "subst" "1.22148E-5" "01695" "ABCA4_000279" "g.94528248A>T" "1, 119894, 0, 0.000008341" "{PMID:van Huet 2014:25324290}" "" "c.1822T>A" "" "Germline" "-" "" "0" "" "" "g.94062692A>T" "" "VUS" ""
"0000125632" "0" "50" "1" "94577010" "94577010" "subst" "1.22004E-5" "01695" "ABCA4_000224" "g.94577010T>C" "3, 119734, 0, 0.00002506" "{PMID:van Huet 2014:25324290}" "" "c.286A>G" "" "Germline" "-" "" "0" "" "" "g.94111454T>C" "" "VUS" ""
"0000125633" "11" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "-" "{PMID:Müller 2015:26720470}" "" "c.1622T>C/c.3113C>T" "" "Germline" "-" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000125634" "11" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "-" "{PMID:Müller 2015:26720470}" "" "c.1622T>C/c.3113C>T" "" "Germline" "-" "" "0" "" "" "g.94043413G>A" "" "pathogenic" ""
"0000125635" "21" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Müller 2015:26720470}" "" "c.2588G>C/c.5603A>T" "" "Germline" "?" "rs76157638" "0" "" "" "g.94051698C>G" "" "likely pathogenic" ""
"0000125636" "11" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Müller 2015:26720470}" "" "c.5882G>A" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "pathogenic" ""
"0000125637" "21" "70" "1" "94577090" "94577090" "subst" "0" "01695" "ABCA4_000233" "g.94577090C>T" "-" "{PMID:Müller 2015:26720470}" "" "c.206G>A" "" "Germline" "?" "" "0" "" "" "g.94111534C>T" "" "likely pathogenic" ""
"0000125638" "11" "70" "1" "94586557" "94586557" "subst" "4.06134E-6" "01695" "ABCA4_000259" "g.94586557C>T" "-" "{PMID:Müller 2015:26720470}" "" "c.45G>A" "" "Germline" "-" "" "0" "" "" "g.94121001C>T" "" "likely pathogenic" ""
"0000125639" "21" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Müller 2015:26720470}" "" "c.5882G>A" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "pathogenic" ""
"0000125640" "11" "90" "1" "94544249" "94544249" "subst" "8.12196E-6" "01695" "ABCA4_000323" "g.94544249A>G" "-" "{PMID:Müller 2015:26720470}" "" "c.1253T>C/c.656G>C" "" "Germline" "-" "" "0" "" "" "g.94078693A>G" "" "pathogenic" ""
"0000125641" "11" "50" "1" "94564462" "94564462" "subst" "4.06775E-5" "01695" "ABCA4_000380" "g.94564462C>G" "" "{PMID:Müller 2015:26720470}" "" "c.1253T>C/c.656G>C" "" "Germline" "-" "" "0" "" "" "g.94098906C>G" "" "VUS" ""
"0000125642" "21" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Müller 2015:26720470}" "" "c.2588G>C/c.5603A>T" "" "Germline" "?" "rs76157638" "0" "" "" "g.94051698C>G" "" "pathogenic" ""
"0000125643" "11" "90" "1" "94546124" "94546124" "subst" "0" "01695" "ABCA4_000342" "g.94546124A>G" "-" "{PMID:Müller 2015:26720470}" "" "c.1009T>C/c.5603A>T" "" "Germline" "-" "" "0" "" "" "g.94080568A>G" "" "pathogenic" ""
"0000125644" "21" "70" "1" "94528132" "94528132" "subst" "4.06835E-6" "01695" "ABCA4_000773" "g.94528132C>T" "1, 120972, 0, 0.000008266" "{PMID:Müller 2015:26720470}" "" "c.1931+1G>A" "" "Germline" "?" "" "0" "" "" "g.94062576C>T" "" "likely pathogenic" ""
"0000125645" "11" "70" "1" "94508433" "94508433" "subst" "8.12209E-6" "01695" "ABCA4_000151" "g.94508433G>A" "2, 121366, 0, 0.00001648" "{PMID:Müller 2015:26720470}" "" "c.3212C>T" "" "Germline" "-" "" "0" "" "" "g.94042877G>A" "" "likely pathogenic" ""
"0000125646" "21" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "-" "{PMID:Müller 2015:26720470}" "" "c.1622T>C/c.3113C>T" "" "Germline" "?" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000125647" "21" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "-" "{PMID:Müller 2015:26720470}" "" "c.1622T>C/c.3113C>T" "" "Germline" "?" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic" ""
"0000125648" "11" "70" "1" "94544196" "94544196" "del" "0" "01695" "ABCA4_000318" "g.94544196del" "-" "{PMID:Müller 2015:26720470}" "" "c.1309delC" "" "Germline" "-" "" "0" "" "" "g.94078640del" "" "likely pathogenic" ""
"0000125649" "21" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Müller 2015:26720470}" "" "c.5882G>A" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "pathogenic" ""
"0000125650" "11" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "-" "{PMID:Müller 2015:26720470}" "" "c.1622T>C/c.3113C>T" "" "Germline" "-" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000125651" "11" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "-" "{PMID:Müller 2015:26720470}" "" "c.1622T>C/c.3113C>T" "" "Germline" "-" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic" ""
"0000125652" "21" "50" "1" "94528774" "94528774" "subst" "0.00264827" "01695" "ABCA4_000298" "g.94528774C>T" "-" "{PMID:Müller 2015:26720470}" "" "c.1654G>A/c.4771G>A" "" "Germline" "?" "" "0" "" "" "g.94063218C>T" "" "VUS" ""
"0000125653" "21" "70" "1" "94487404" "94487404" "subst" "0.00244055" "01695" "ABCA4_000497" "g.94487404C>T" "-" "{PMID:Müller 2015:26720470}" "" "c.1654G>A/c.4771G>A" "" "Germline" "?" "" "0" "" "" "g.94021848C>T" "" "likely pathogenic" ""
"0000125654" "11" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Müller 2015:26720470}" "" "c.5882G>A" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000125655" "21" "70" "1" "94522239" "94522239" "subst" "2.03305E-5" "01695" "ABCA4_000736" "g.94522239A>T" "1, 119332, 0, 0.00000838" "{PMID:Müller 2015:26720470}" "" "c.2300T>A" "" "Germline" "?" "" "0" "" "" "g.94056683A>T" "" "likely pathogenic" ""
"0000125656" "11" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Müller 2015:26720470}" "" "c.2588G>C" "" "Germline" "-" "rs76157638" "0" "" "" "g.94051698C>G" "" "likely pathogenic" ""
"0000125657" "21" "90" "1" "94577102" "94577102" "subst" "0" "01695" "ABCA4_000234" "g.94577102C>G" "-" "{PMID:Müller 2015:26720470}" "" "c.194G>C" "" "Germline" "?" "" "0" "" "" "g.94111546C>G" "" "pathogenic" ""
"0000125658" "11" "90" "1" "94473278" "94473278" "del" "3.25908E-5" "01695" "ABCA4_000392" "g.94473278del" "-" "{PMID:Müller 2015:26720470}" "" "c.5917delG" "" "Germline" "-" "" "0" "" "" "g.94007722del" "" "pathogenic" ""
"0000125659" "21" "90" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "42, 120772, 0, 0.0003478" "{PMID:Müller 2015:26720470}" "" "c.5714+5G>A" "" "Germline" "?" "" "0" "" "" "g.94010795C>T" "" "pathogenic" ""
"0000125660" "11" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "-" "{PMID:Müller 2015:26720470}" "" "c.1622T>C/c.3113C>T" "" "Germline" "-" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000125661" "11" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "-" "{PMID:Müller 2015:26720470}" "" "c.1622T>C/c.3113C>T" "" "Germline" "-" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic" ""
"0000125662" "21" "79" "1" "94528132" "94528310" "del" "0" "01695" "ABCA4_000193" "g.(94526316_94528132)_(94528310_94528667)del" "-" "{PMID:Müller 2015:26720470}" "" "ex13 deletion" "" "Germline" "?" "" "0" "" "" "g.(94060760_94062576)_(94062754_94063111)del" "" "likely pathogenic" ""
"0000125663" "11" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "42, 120772, 0, 0.0003478" "{PMID:Müller 2015:26720470}" "" "c.5714+5G>A" "" "Germline" "-" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic" ""
"0000125664" "21" "90" "1" "94508384" "94508384" "subst" "0" "01695" "ABCA4_000641" "g.94508384T>G" "-" "{PMID:Müller 2015:26720470}" "" "c.3261A>C" "" "Germline" "?" "" "0" "" "" "g.94042828T>G" "" "pathogenic" ""
"0000125665" "11" "90" "1" "94508316" "94510301" "del" "0" "01695" "ABCA4_000041" "g.(94506959_94508316)_(94510301_94512474)del" "-" "{PMID:Müller 2015:26720470}" "" "E20-22deletion" "" "Germline" "-" "" "0" "" "" "g.(94041403_94042760)_(94044745_94046918)del" "" "pathogenic" ""
"0000125666" "21" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Müller 2015:26720470}" "" "c.2588G>C" "" "Germline" "?" "rs76157638" "0" "" "" "g.94051698C>G" "" "pathogenic" ""
"0000125667" "11" "70" "1" "94466452" "94466452" "subst" "0" "01695" "ABCA4_000823" "g.94466452A>C" "-" "{PMID:Müller 2015:26720470}" "" "c.6419T>G" "" "Germline" "-" "" "0" "" "" "g.94000896A>C" "" "likely pathogenic" ""
"0000125668" "21" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "5406, 121330, 156, 0.04456" "{PMID:Müller 2015:26720470}" "" "c.5603A>T" "this is most likely a non-causative polymorphism" "Germline" "?" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic" ""
"0000125669" "11" "70" "1" "94496571" "94496571" "subst" "4.06174E-6" "01695" "ABCA4_000111" "g.94496571G>A" "-" "{PMID:Müller 2015:26720470}" "" "c.4234C>T" "" "Germline" "-" "" "0" "" "" "g.94031015G>A" "" "likely pathogenic" ""
"0000125670" "21" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "-" "{PMID:Müller 2015:26720470}" "" "c.1622T>C/c.3113C>T" "" "Germline" "?" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000125671" "21" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "-" "{PMID:Müller 2015:26720470}" "" "c.1622T>C/c.3113C>T" "" "Germline" "?" "" "0" "" "" "g.94043413G>A" "" "pathogenic" ""
"0000125672" "0" "70" "1" "94586570" "94586570" "subst" "4.06101E-6" "01695" "ABCA4_000154" "g.94586570A>G" "1, 121404, 0, 0.000008237" "{PMID:Cideciyan 2009:19074458}" "" "L11P" "" "Germline" "-" "" "0" "" "" "g.94121014A>G" "" "likely pathogenic" ""
"0000125673" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "26, 121404, 0, 0.0002142" "{PMID:Cideciyan 2009:19074458}" "" "L2027F" "" "Germline" "?" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic" ""
"0000125674" "0" "70" "1" "94586550" "94586550" "subst" "1.21864E-5" "01695" "ABCA4_000037" "g.94586550G>A" "3, 121392, 0, 0.00002471" "{PMID:Cideciyan 2009:19074458}" "" "R18W" "" "Germline" "-" "" "0" "" "" "g.94120994G>A" "" "likely pathogenic" ""
"0000125675" "0" "70" "1" "94528270" "94528270" "subst" "0" "01695" "ABCA4_000285" "g.94528270A>C" "1, 113416, 0, 0.000008817" "{PMID:Cideciyan 2009:19074458}" "" "D600E" "" "Germline" "?" "" "0" "" "" "g.94062714A>C" "" "likely pathogenic" ""
"0000125676" "0" "70" "1" "94578566" "94578566" "subst" "4.06207E-6" "01695" "ABCA4_000246" "g.94578566C>T" "1, 120980, 0, 0.000008266" "{PMID:Cideciyan 2009:19074458}" "" "W41X" "" "Germline" "-" "" "0" "" "" "g.94113010C>T" "" "likely pathogenic" ""
"0000125677" "0" "90" "1" "94508353" "94508353" "subst" "2.8431E-5" "01695" "ABCA4_000141" "g.94508353G>A" "4, 121358, 0, 0.00003296" "{PMID:Cideciyan 2009:19074458}" "" "R1098C" "" "Germline" "yes" "" "0" "" "" "g.94042797G>A" "" "pathogenic" ""
"0000125678" "0" "90" "1" "94577135" "94577135" "subst" "2.43718E-5" "01695" "ABCA4_000240" "g.94577135C>T" "2, 121210, 0, 0.0000165" "{PMID:Cideciyan 2009:19074458}" "" "C54Y" "" "Germline" "-" "" "0" "" "" "g.94111579C>T" "" "pathogenic" ""
"0000125679" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Cideciyan 2009:19074458}" "" "G863A" "" "Germline" "yes" "rs76157638" "0" "" "" "g.94051698C>G" "" "pathogenic" ""
"0000125680" "0" "70" "1" "94577135" "94577135" "subst" "2.43718E-5" "01695" "ABCA4_000240" "g.94577135C>T" "2, 121210, 0, 0.0000165" "{PMID:Cideciyan 2009:19074458}" "" "C54Y" "" "Germline" "-" "" "0" "" "" "g.94111579C>T" "" "likely pathogenic" ""
"0000125681" "0" "90" "1" "94506902" "94506902" "subst" "1.21834E-5" "01695" "ABCA4_000623" "g.94506902G>A" "2, 121396, 0, 0.00001648" "{PMID:Cideciyan 2009:19074458}" "" "R1129C" "" "Germline" "yes" "" "0" "" "" "g.94041346G>A" "" "pathogenic" ""
"0000125682" "0" "90" "1" "94577135" "94577135" "subst" "2.43718E-5" "01695" "ABCA4_000240" "g.94577135C>T" "2, 121210, 0, 0.0000165" "{PMID:Cideciyan 2009:19074458}" "" "C54Y" "" "Germline" "-" "" "0" "" "" "g.94111579C>T" "" "pathogenic" ""
"0000125683" "0" "90" "1" "94486794" "94486794" "subst" "0" "01695" "ABCA4_000478" "g.94486794A>G" "" "{PMID:Cideciyan 2009:19074458}" "" "IVS35+2T>C" "" "Germline" "yes" "" "0" "" "" "g.94021238A>G" "" "pathogenic" ""
"0000125684" "0" "70" "1" "94577135" "94577135" "subst" "2.43718E-5" "01695" "ABCA4_000240" "g.94577135C>T" "2, 121210, 0, 0.0000165" "{PMID:Cideciyan 2009:19074458}" "" "C54Y" "" "Germline" "-" "" "0" "" "" "g.94111579C>T" "" "likely pathogenic" ""
"0000125685" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Cideciyan 2009:19074458}" "" "G1961E" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "pathogenic" ""
"0000125686" "0" "70" "1" "94577117" "94577117" "subst" "1.62472E-5" "01695" "ABCA4_000237" "g.94577117G>A" "1, 121292, 0, 0.000008245" "{PMID:Cideciyan 2009:19074458}" "" "A60V" "" "Germline" "-" "" "0" "" "" "g.94111561G>A" "" "likely pathogenic" ""
"0000125687" "0" "70" "1" "94512602" "94512602" "subst" "0.000369717" "01695" "ABCA4_000052" "g.94512602C>T" "59, 120896, 0, 0.000488" "{PMID:Cideciyan 2009:19074458}" "" "V931M" "" "Germline" "yes" "" "0" "" "" "g.94047046C>T" "" "likely pathogenic" ""
"0000125688" "0" "70" "1" "94576998" "94576998" "subst" "0" "01695" "ABCA4_000222" "g.94576998A>G" "-" "{PMID:Cideciyan 2009:19074458}" "" "S100P" "" "Germline" "-" "" "0" "" "" "g.94111442A>G" "" "likely pathogenic" ""
"0000125689" "0" "70" "1" "94505604" "94505604" "subst" "0.00645586" "01695" "ABCA4_000092" "g.94505604A>C" "879, 64452, 44, 0.01364" "{PMID:Cideciyan 2009:19074458}" "" "L1201R" "" "Germline" "?" "" "0" "" "" "g.94040048A>C" "" "likely pathogenic" ""
"0000125690" "0" "50" "1" "94568687" "94568687" "subst" "1.62641E-5" "01695" "ABCA4_000024" "g.94568687G>A" "1, 120844, 0, 0.000008275" "{PMID:Cideciyan 2009:19074458}" "" "R152X" "" "Germline" "-" "" "0" "" "" "g.94103131G>A" "" "VUS" ""
"0000125691" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Cideciyan 2009:19074458}" "" "IVS38-10T>C" "" "Germline" "yes" "" "0" "" "" "g.94011395A>G" "" "pathogenic" ""
"0000125692" "0" "70" "1" "94568687" "94568687" "subst" "1.62641E-5" "01695" "ABCA4_000024" "g.94568687G>A" "1, 120844, 0, 0.000008275" "{PMID:Cideciyan 2009:19074458}" "" "R152X" "" "Germline" "-" "" "0" "" "" "g.94103131G>A" "" "likely pathogenic" ""
"0000125693" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Cideciyan 2009:19074458}" "" "G1961E" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "pathogenic" ""
"0000125694" "0" "70" "1" "94568687" "94568687" "subst" "1.62641E-5" "01695" "ABCA4_000024" "g.94568687G>A" "1, 120844, 0, 0.000008275" "{PMID:Cideciyan 2009:19074458}" "" "R152X" "" "Germline" "-" "" "0" "" "" "g.94103131G>A" "" "likely pathogenic" ""
"0000125695" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Cideciyan 2009:19074458}" "" "G1961E" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "pathogenic" ""
"0000125696" "0" "70" "1" "94564544" "94564544" "subst" "0.000432798" "01695" "ABCA4_000383" "g.94564544C>T" "63, 98822, 0, 0.0006375" "{PMID:Cideciyan 2009:19074458}" "" "A192T" "" "Germline" "-" "" "0" "" "" "g.94098988C>T" "" "likely pathogenic" ""
"0000125697" "0" "70" "1" "94490570" "94490570" "subst" "0" "01695" "ABCA4_000525" "g.94490570A>G" "-" "{PMID:Cideciyan 2009:19074458}" "" "L1525P" "" "Germline" "yes" "" "0" "" "" "g.94025014A>G" "" "likely pathogenic" ""
"0000125698" "3" "70" "1" "94564460" "94564460" "subst" "8.1355E-6" "01695" "ABCA4_000056" "g.94564460G>A" "-" "{PMID:Cideciyan 2009:19074458}" "" "R220C" "" "Germline" "?" "" "0" "" "" "g.94098904G>A" "" "likely pathogenic" ""
"0000125699" "3" "70" "1" "94564387" "94564387" "subst" "4.06111E-6" "01695" "ABCA4_000372" "g.94564387A>G" "1, 121328, 0, 0.000008242" "{PMID:Cideciyan 2009:19074458}" "" "L244P" "" "Germline" "yes" "" "0" "" "" "g.94098831A>G" "" "likely pathogenic" ""
"0000125700" "3" "70" "1" "94564387" "94564387" "subst" "4.06111E-6" "01695" "ABCA4_000372" "g.94564387A>G" "1, 121328, 0, 0.000008242" "{PMID:Cideciyan 2009:19074458}" "" "L244P" "" "Germline" "yes" "" "0" "" "" "g.94098831A>G" "" "likely pathogenic" ""
"0000125701" "3" "70" "1" "94564387" "94564387" "subst" "4.06111E-6" "01695" "ABCA4_000372" "g.94564387A>G" "1, 121328, 0, 0.000008242" "{PMID:Cideciyan 2009:19074458}" "" "L244P" "" "Germline" "yes" "" "0" "" "" "g.94098831A>G" "" "likely pathogenic" ""
"0000125702" "3" "70" "1" "94564387" "94564387" "subst" "4.06111E-6" "01695" "ABCA4_000372" "g.94564387A>G" "1, 121328, 0, 0.000008242" "{PMID:Cideciyan 2009:19074458}" "" "L244P" "" "Germline" "yes" "" "0" "" "" "g.94098831A>G" "" "likely pathogenic" ""
"0000125703" "3" "90" "1" "94564383" "94564383" "subst" "0" "01695" "ABCA4_000371" "g.94564383A>C" "-" "{PMID:Cideciyan 2009:19074458}" "" "Y245X" "" "Germline" "yes" "" "0" "" "" "g.94098827A>C" "" "pathogenic" ""
"0000125704" "3" "90" "1" "94564383" "94564383" "subst" "0" "01695" "ABCA4_000371" "g.94564383A>C" "-" "{PMID:Cideciyan 2009:19074458}" "" "Y245X" "" "Germline" "yes" "" "0" "" "" "g.94098827A>C" "" "pathogenic" ""
"0000125705" "0" "70" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "13, 121216, 0, 0.0001072" "{PMID:Cideciyan 2009:19074458}" "" "V256V" "" "Germline" "-" "" "0" "" "" "g.94098794C>A" "" "likely pathogenic" ""
"0000125706" "0" "50" "1" "94490567" "94490567" "subst" "5.68528E-5" "01695" "ABCA4_000026" "g.94490567G>A" "4, 121406, 0, 0.00003295" "{PMID:Cideciyan 2009:19074458}" "" "T1526M" "" "Germline" "yes" "" "0" "" "" "g.94025011G>A" "" "VUS" ""
"0000125707" "0" "70" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "13, 121216, 0, 0.0001072" "{PMID:Cideciyan 2009:19074458}" "" "V256V" "" "Germline" "-" "" "0" "" "" "g.94098794C>A" "" "likely pathogenic" ""
"0000125708" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Cideciyan 2009:19074458}" "" "G1961E" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000125709" "0" "70" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "13, 121216, 0, 0.0001072" "{PMID:Cideciyan 2009:19074458}" "" "V256V" "" "Germline" "-" "" "0" "" "" "g.94098794C>A" "" "likely pathogenic" ""
"0000125710" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Cideciyan 2009:19074458}" "" "G1961E" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000125711" "0" "50" "1" "94546047" "94546047" "subst" "0" "01695" "ABCA4_000150" "g.94546047A>T" "-" "{PMID:Cideciyan 2009:19074458}" "" "Y362X" "" "Germline" "-" "" "0" "" "" "g.94080491A>T" "" "VUS" ""
"0000125712" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Cideciyan 2009:19074458}" "" "IVS38-10T>C" "" "Germline" "?" "" "0" "" "" "g.94011395A>G" "" "pathogenic" ""
"0000125713" "0" "70" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "6, 119038, 0, 0.0000504" "{PMID:Cideciyan 2009:19074458}" "" "R602W" "" "Germline" "-" "" "0" "" "" "g.94062710G>A" "" "likely pathogenic" ""
"0000125714" "0" "70" "1" "94476383" "94476383" "subst" "4.0622E-6" "01695" "ABCA4_000413" "g.94476383A>T" "1, 121106, 0, 0.000008257" "{PMID:Cideciyan 2009:19074458}" "" "V1896D" "" "Germline" "?" "" "0" "" "" "g.94010827A>T" "" "likely pathogenic" ""
"0000125715" "0" "50" "1" "94526265" "94526265" "subst" "0" "01695" "ABCA4_000143" "g.94526265C>T" "-" "{PMID:Cideciyan 2009:19074458}" "" "W663X" "" "Germline" "-" "" "0" "" "" "g.94060709C>T" "" "VUS" ""
"0000125716" "0" "90" "1" "0" "0" "" "0" "01695" "ABCA4_000000" "g.?" "-" "{PMID:Cideciyan 2009:19074458}" "" "D654N" "" "Germline" "?" "" "0" "" "" "" "" "pathogenic" ""
"0000125717" "0" "70" "1" "94526212" "94526212" "subst" "1.22012E-5" "01695" "ABCA4_000075" "g.94526212G>A" "3, 120836, 0, 0.00002483" "{PMID:Cideciyan 2009:19074458}" "" "R681X" "" "Germline" "-" "" "0" "" "" "g.94060656G>A" "" "likely pathogenic" ""
"0000125718" "0" "90" "1" "94546207" "94546207" "subst" "0.000101665" "01695" "ABCA4_000083" "g.94546207G>C" "16, 121336, 0, 0.0001319" "{PMID:Cideciyan 2009:19074458}" "" "P309R" "" "Germline" "yes" "" "0" "" "" "g.94080651G>C" "" "pathogenic" ""
"0000125719" "0" "70" "1" "94526212" "94526212" "subst" "1.22012E-5" "01695" "ABCA4_000075" "g.94526212G>A" "3, 120836, 0, 0.00002483" "{PMID:Cideciyan 2009:19074458}" "" "R681X" "" "Germline" "-" "" "0" "" "" "g.94060656G>A" "" "likely pathogenic" ""
"0000125720" "0" "90" "1" "94466422" "94466422" "subst" "2.43651E-5" "01695" "ABCA4_000817" "g.94466422C>T" "3, 121398, 0, 0.00002471" "{PMID:Cideciyan 2009:19074458}" "" "C2150Y" "" "Germline" "yes" "" "0" "" "" "g.94000866C>T" "" "pathogenic" ""
"0000125721" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Cideciyan 2009:19074458}" "" "G863A" "" "Germline" "-" "rs76157638" "0" "" "" "g.94051698C>G" "" "likely pathogenic" ""
"0000125722" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "14, 121282, 0, 0.0001154" "{PMID:Cideciyan 2009:19074458}" "" "R1108C" "" "Germline" "yes" "" "0" "" "" "g.94042767G>A" "" "pathogenic" ""
"0000125723" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Cideciyan 2009:19074458}" "" "G863A" "" "Germline" "-" "rs76157638" "0" "" "" "g.94051698C>G" "" "likely pathogenic" ""
"0000125724" "0" "90" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "12, 60116, 0, 0.0001996" "{PMID:Cideciyan 2009:19074458}" "" "C1490Y" "" "Germline" "yes" "" "0" "" "" "g.94029515C>T" "" "pathogenic" ""
"0000125725" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Cideciyan 2009:19074458}" "" "G863A" "" "Germline" "-" "rs76157638" "0" "" "" "g.94051698C>G" "" "likely pathogenic" ""
"0000125726" "0" "90" "1" "94480164" "94480164" "subst" "0" "01695" "ABCA4_000440" "g.94480164T>C" "-" "{PMID:Cideciyan 2009:19074458}" "" "N1799D" "" "Germline" "yes" "" "0" "" "" "g.94014608T>C" "" "pathogenic" ""
"0000125727" "0" "90" "1" "94512589" "94512589" "subst" "4.06184E-6" "01695" "ABCA4_000696" "g.94512589A>G" "1, 121032, 0, 0.000008262" "{PMID:Cideciyan 2009:19074458}" "" "V935A" "" "Germline" "-" "" "0" "" "" "g.94047033A>G" "" "pathogenic" ""
"0000125728" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "42, 120772, 0, 0.0003478" "{PMID:Cideciyan 2009:19074458}" "" "IVS40+5G>A" "" "Germline" "yes" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic" ""
"0000125729" "3" "70" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "21, 121302, 0, 0.0001731" "{PMID:Cideciyan 2009:19074458}" "" "N965S" "" "Germline" "?" "" "0" "" "" "g.94046943T>C" "" "likely pathogenic" ""
"0000125730" "0" "70" "1" "94509026" "94509026" "subst" "4.06497E-5" "01695" "ABCA4_000660" "g.94509026G>A" "5, 120988, 0, 0.00004133" "{PMID:Cideciyan 2009:19074458}" "" "T1019M" "" "Germline" "-" "" "0" "" "" "g.94043470G>A" "" "likely pathogenic" ""
"0000125731" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Cideciyan 2009:19074458}" "" "G1961E" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000125732" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "-" "{PMID:Cideciyan 2009:19074458}" "" "A1038V;L541P" "" "Germline" "-" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000125733" "1" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "-" "{PMID:Cideciyan 2009:19074458}" "" "A1038V;L541P" "" "Germline" "-" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic" ""
"0000125734" "0" "70" "1" "94520801" "94520801" "subst" "0.000211489" "01695" "ABCA4_000724" "g.94520801C>T" "24, 121324, 0, 0.0001978" "{PMID:Cideciyan 2009:19074458}" "" "G818E" "" "Germline" "yes" "" "0" "" "" "g.94055245C>T" "" "likely pathogenic" ""
"0000125735" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "-" "{PMID:Cideciyan 2009:19074458}" "" "A1038V;L541P" "" "Germline" "-" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000125736" "1" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "-" "{PMID:Cideciyan 2009:19074458}" "" "A1038V;L541P" "" "Germline" "-" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic" ""
"0000125737" "0" "70" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "21, 121302, 0, 0.0001731" "{PMID:Cideciyan 2009:19074458}" "" "N965S" "" "Germline" "yes" "" "0" "" "" "g.94046943T>C" "" "likely pathogenic" ""
"0000125738" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "-" "{PMID:Cideciyan 2009:19074458}" "" "A1038V;L541P" "" "Germline" "-" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000125739" "1" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "-" "{PMID:Cideciyan 2009:19074458}" "" "A1038V;L541P" "" "Germline" "-" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic" ""
"0000125740" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "24, 119274, 0, 0.0002012" "{PMID:Cideciyan 2009:19074458}" "" "P1380L" "" "Germline" "?" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic" ""
"0000125741" "0" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "173, 121304, 0, 0.001426" "{PMID:Cideciyan 2009:19074458}" "" "A1038V" "" "Germline" "-" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic" ""
"0000125742" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "24, 119274, 0, 0.0002012" "{PMID:Cideciyan 2009:19074458}" "" "P1380L" "" "Germline" "yes" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic" ""
"0000125743" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "-" "{PMID:Cideciyan 2009:19074458}" "" "A1038V;L541P" "" "Germline" "-" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000125744" "1" "50" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "-" "{PMID:Cideciyan 2009:19074458}" "" "A1038V;L541P" "" "Germline" "-" "" "0" "" "" "g.94043413G>A" "" "VUS" ""
"0000125745" "0" "70" "1" "94476812" "94476812" "subst" "0" "01695" "ABCA4_000048" "g.94476812A>G" "-" "{PMID:Cideciyan 2009:19074458}" "" "IVS39+6T>C" "" "Germline" "yes" "" "0" "" "" "g.94011256A>G" "" "likely pathogenic" ""
"0000125746" "0" "70" "1" "94508386" "94508386" "subst" "1.62443E-5" "01695" "ABCA4_000642" "g.94508386C>T" "4, 121376, 0, 0.00003296" "{PMID:Cideciyan 2009:19074458}" "" "E1087K" "" "Germline" "-" "" "0" "" "" "g.94042830C>T" "" "likely pathogenic" ""
"0000125747" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Cideciyan 2009:19074458}" "" "G1961E" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000125748" "0" "50" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "14, 121282, 0, 0.0001154" "{PMID:Cideciyan 2009:19074458}" "" "R1108C" "" "Germline" "-" "" "0" "" "" "g.94042767G>A" "" "VUS" ""
"0000125749" "0" "70" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Cideciyan 2009:19074458}" "" "IVS38-10T>C" "" "Germline" "yes" "" "0" "" "" "g.94011395A>G" "" "likely pathogenic" ""
"0000125750" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "14, 121282, 0, 0.0001154" "{PMID:Cideciyan 2009:19074458}" "" "R1108C" "" "Germline" "-" "" "0" "" "" "g.94042767G>A" "" "pathogenic" ""
"0000125751" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "42, 120772, 0, 0.0003478" "{PMID:Cideciyan 2009:19074458}" "" "IVS40+5G>A" "" "Germline" "yes" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic" ""
"0000125752" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "14, 121282, 0, 0.0001154" "{PMID:Cideciyan 2009:19074458}" "" "R1108C" "" "Germline" "-" "" "0" "" "" "g.94042767G>A" "" "pathogenic" ""
"0000125753" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "42, 120772, 0, 0.0003478" "{PMID:Cideciyan 2009:19074458}" "" "IVS40+5G>A" "" "Germline" "?" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic" ""
"0000125754" "0" "70" "1" "94506923" "94506923" "subst" "2.43657E-5" "01695" "ABCA4_000012" "g.94506923C>T" "3, 121394, 0, 0.00002471" "{PMID:Cideciyan 2009:19074458}" "" "E1122K" "" "Germline" "-" "" "0" "" "" "g.94041367C>T" "" "likely pathogenic" ""
"0000125755" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Cideciyan 2009:19074458}" "" "G1961E" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000125756" "3" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "24, 119274, 0, 0.0002012" "{PMID:Cideciyan 2009:19074458}" "" "P1380L" "" "Germline" "yes" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic" ""
"0000125757" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "24, 119274, 0, 0.0002012" "{PMID:Cideciyan 2009:19074458}" "" "P1380L" "" "Germline" "-" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic" ""
"0000125758" "0" "70" "1" "94485278" "94485278" "subst" "0.000487317" "01695" "ABCA4_000101" "g.94485278C>T" "55, 106206, 0, 0.0005179" "{PMID:Cideciyan 2009:19074458}" "" "V1686M" "" "Germline" "?" "" "0" "" "" "g.94019722C>T" "" "likely pathogenic" ""
"0000125759" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "24, 119274, 0, 0.0002012" "{PMID:Cideciyan 2009:19074458}" "" "P1380L" "" "Germline" "-" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic" ""
"0000125760" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Cideciyan 2009:19074458}" "" "G1961E" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000125761" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "24, 119274, 0, 0.0002012" "{PMID:Cideciyan 2009:19074458}" "" "P1380L" "" "Germline" "-" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic" ""
"0000125762" "0" "70" "1" "94463631" "94463631" "subst" "0" "01695" "ABCA4_000810" "g.94463631T>C" "-" "{PMID:Cideciyan 2009:19074458}" "" "K2172R" "" "Germline" "yes" "" "0" "" "" "g.93998075T>C" "" "likely pathogenic" ""
"0000125763" "0" "90" "1" "94496583" "94496583" "subst" "2.03092E-5" "01695" "ABCA4_000190" "g.94496583A>G" "1, 120898, 0, 0.000008271" "{PMID:Cideciyan 2009:19074458}" "" "W1408R" "" "Germline" "-" "" "0" "" "" "g.94031027A>G" "" "pathogenic" ""
"0000125764" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "42, 120772, 0, 0.0003478" "{PMID:Cideciyan 2009:19074458}" "" "IVS40+5G>A" "" "Germline" "yes" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic" ""
"0000125765" "0" "70" "1" "94496039" "94496039" "subst" "0.00157963" "01695" "ABCA4_000552" "g.94496039C>T" "173, 121380, 1, 0.001425" "{PMID:Cideciyan 2009:19074458}" "" "V1433I" "" "Germline" "-" "" "0" "" "" "g.94030483C>T" "" "likely pathogenic" ""
"0000125766" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "26, 121404, 0, 0.0002142" "{PMID:Cideciyan 2009:19074458}" "" "L2027F" "" "Germline" "yes" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic" ""
"0000125767" "0" "70" "1" "94495009" "94495009" "dup" "0" "01695" "ABCA4_000087" "g.94495009dup" "-" "{PMID:Cideciyan 2009:19074458}" "" "P1511ins1ccgC" "" "Germline" "-" "" "0" "" "" "g.94029453dup" "" "likely pathogenic" ""
"0000125768" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Cideciyan 2009:19074458}" "" "G1961E" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "pathogenic" ""
"0000125769" "0" "70" "1" "94495009" "94495009" "dup" "0" "01695" "ABCA4_000087" "g.94495009dup" "-" "{PMID:Cideciyan 2009:19074458}" "" "P1511ins1ccgC" "" "Germline" "-" "" "0" "" "" "g.94029453dup" "" "likely pathogenic" ""
"0000125770" "0" "90" "1" "94485220" "94485220" "subst" "0.000106324" "01695" "ABCA4_000121" "g.94485220C>T" "8, 103118, 0, 0.00007758" "{PMID:Cideciyan 2009:19074458}" "" "R1705Q" "" "Germline" "yes" "" "0" "" "" "g.94019664C>T" "" "pathogenic" ""
"0000125771" "0" "70" "1" "94490567" "94490567" "subst" "5.68528E-5" "01695" "ABCA4_000026" "g.94490567G>A" "4, 121406, 0, 0.00003295" "{PMID:Cideciyan 2009:19074458}" "" "T1526M" "" "Germline" "-" "" "0" "" "" "g.94025011G>A" "" "likely pathogenic" ""
"0000125772" "0" "70" "1" "94471055" "94471055" "subst" "0.00035346" "01695" "ABCA4_000029" "g.94471055C>T" "47, 121404, 1, 0.0003871" "{PMID:Cideciyan 2009:19074458}" "" "R2030Q" "" "Germline" "yes" "" "0" "" "" "g.94005499C>T" "" "likely pathogenic" ""
"0000125773" "0" "70" "1" "94490567" "94490567" "subst" "5.68528E-5" "01695" "ABCA4_000026" "g.94490567G>A" "4, 121406, 0, 0.00003295" "{PMID:Cideciyan 2009:19074458}" "" "T1526M" "" "Germline" "-" "" "0" "" "" "g.94025011G>A" "" "likely pathogenic" ""
"0000125774" "0" "70" "1" "94471055" "94471055" "subst" "0.00035346" "01695" "ABCA4_000029" "g.94471055C>T" "47, 121404, 1, 0.0003871" "{PMID:Cideciyan 2009:19074458}" "" "R2030Q" "" "Germline" "yes" "" "0" "" "" "g.94005499C>T" "" "likely pathogenic" ""
"0000125775" "0" "70" "1" "94490567" "94490567" "subst" "5.68528E-5" "01695" "ABCA4_000026" "g.94490567G>A" "4, 121406, 0, 0.00003295" "{PMID:Cideciyan 2009:19074458}" "" "T1526M" "" "Germline" "-" "" "0" "" "" "g.94025011G>A" "" "likely pathogenic" ""
"0000125776" "0" "70" "1" "94471055" "94471055" "subst" "0.00035346" "01695" "ABCA4_000029" "g.94471055C>T" "47, 121404, 1, 0.0003871" "{PMID:Cideciyan 2009:19074458}" "" "R2030Q" "" "Germline" "yes" "" "0" "" "" "g.94005499C>T" "" "likely pathogenic" ""
"0000125777" "0" "70" "1" "94487251" "94487251" "subst" "2.85679E-5" "01695" "ABCA4_000490" "g.94487251G>T" "3, 113672, 0, 0.00002639" "{PMID:Cideciyan 2009:19074458}" "" "A1598D" "" "Germline" "-" "" "0" "" "" "g.94021695G>T" "" "likely pathogenic" ""
"0000125778" "0" "70" "1" "94486895" "94486895" "subst" "3.24923E-5" "01695" "ABCA4_000484" "g.94486895C>T" "7, 121398, 0, 0.00005766" "{PMID:Cideciyan 2009:19074458}" "" "R1640Q" "" "Germline" "yes" "" "0" "" "" "g.94021339C>T" "" "likely pathogenic" ""
"0000125779" "0" "70" "1" "94487251" "94487251" "subst" "2.85679E-5" "01695" "ABCA4_000490" "g.94487251G>T" "3, 113672, 0, 0.00002639" "{PMID:Cideciyan 2009:19074458}" "" "A1598D" "" "Germline" "-" "" "0" "" "" "g.94021695G>T" "" "likely pathogenic" ""
"0000125780" "0" "70" "1" "94486895" "94486895" "subst" "3.24923E-5" "01695" "ABCA4_000484" "g.94486895C>T" "7, 121398, 0, 0.00005766" "{PMID:Cideciyan 2009:19074458}" "" "R1640Q" "" "Germline" "yes" "" "0" "" "" "g.94021339C>T" "" "likely pathogenic" ""
"0000125781" "0" "70" "1" "94486895" "94486895" "subst" "3.24923E-5" "01695" "ABCA4_000484" "g.94486895C>T" "7, 121398, 0, 0.00005766" "{PMID:Cideciyan 2009:19074458}" "" "R1640Q" "" "Germline" "-" "" "0" "" "" "g.94021339C>T" "" "likely pathogenic" ""
"0000125782" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Cideciyan 2009:19074458}" "" "G1961E" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000125783" "0" "70" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Cideciyan 2009:19074458}" "" "IVS38-10T>C" "" "Germline" "-" "" "0" "" "" "g.94011395A>G" "" "likely pathogenic" ""
"0000125784" "0" "50" "1" "94508384" "94508384" "subst" "0" "01695" "ABCA4_000641" "g.94508384T>G" "-" "{PMID:Cideciyan 2009:19074458}" "" "E1087D" "" "Germline" "yes" "" "0" "" "" "g.94042828T>G" "" "VUS" ""
"0000125785" "0" "90" "1" "94474323" "94474323" "subst" "2.03034E-5" "01695" "ABCA4_000156" "g.94474323A>G" "1, 121410, 0, 0.000008237" "{PMID:Cideciyan 2009:19074458}" "" "L1940P" "" "Germline" "-" "" "0" "" "" "g.94008767A>G" "" "pathogenic" ""
"0000125786" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "42, 120772, 0, 0.0003478" "{PMID:Cideciyan 2009:19074458}" "" "IVS40+5G>A" "" "Germline" "yes" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic" ""
"0000125787" "0" "90" "1" "94474323" "94474323" "subst" "2.03034E-5" "01695" "ABCA4_000156" "g.94474323A>G" "1, 121410, 0, 0.000008237" "{PMID:Cideciyan 2009:19074458}" "" "L1940P" "" "Germline" "-" "" "0" "" "" "g.94008767A>G" "" "pathogenic" ""
"0000125788" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "42, 120772, 0, 0.0003478" "{PMID:Cideciyan 2009:19074458}" "" "IVS40+5G>A" "" "Germline" "yes" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic" ""
"0000125789" "0" "90" "1" "94474323" "94474323" "subst" "2.03034E-5" "01695" "ABCA4_000156" "g.94474323A>G" "1, 121410, 0, 0.000008237" "{PMID:Cideciyan 2009:19074458}" "" "L1940P" "" "Germline" "-" "" "0" "" "" "g.94008767A>G" "" "pathogenic" ""
"0000125790" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "42, 120772, 0, 0.0003478" "{PMID:Cideciyan 2009:19074458}" "" "IVS40+5G>A" "" "Germline" "yes" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic" ""
"0000125791" "0" "90" "1" "94474323" "94474323" "subst" "2.03034E-5" "01695" "ABCA4_000156" "g.94474323A>G" "1, 121410, 0, 0.000008237" "{PMID:Cideciyan 2009:19074458}" "" "L1940P" "" "Germline" "-" "" "0" "" "" "g.94008767A>G" "" "pathogenic" ""
"0000125792" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "42, 120772, 0, 0.0003478" "{PMID:Cideciyan 2009:19074458}" "" "IVS40+5G>A" "" "Germline" "yes" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic" ""
"0000125793" "0" "70" "1" "94474323" "94474323" "subst" "2.03034E-5" "01695" "ABCA4_000156" "g.94474323A>G" "1, 121410, 0, 0.000008237" "{PMID:Cideciyan 2009:19074458}" "" "L1940P" "" "Germline" "-" "" "0" "" "" "g.94008767A>G" "" "likely pathogenic" ""
"0000125794" "0" "70" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "30, 121388, 0, 0.0002471" "{PMID:Cideciyan 2009:19074458}" "" "R1129L" "" "Germline" "yes" "" "0" "" "" "g.94041345C>A" "" "likely pathogenic" ""
"0000125795" "0" "90" "1" "94473808" "94473808" "subst" "8.52861E-5" "01695" "ABCA4_000196" "g.94473808C>T" "-" "{PMID:Cideciyan 2009:19074458}" "" "G1961R" "" "Germline" "-" "" "0" "" "" "g.94008252C>T" "" "pathogenic" ""
"0000125796" "0" "70" "1" "94481380" "94481390" "del" "0" "01695" "ABCA4_000458" "g.94481380_94481390del" "-" "{PMID:Cideciyan 2009:19074458}" "" "A1739del11g" "" "Germline" "yes" "" "0" "" "" "g.94015824_94015834del" "" "likely pathogenic" ""
"0000125797" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Cideciyan 2009:19074458}" "" "G1961E" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "pathogenic" ""
"0000125798" "0" "70" "1" "94526247" "94526248" "del" "0" "01695" "ABCA4_000761" "g.94526247_94526248del" "-" "{PMID:Cideciyan 2009:19074458}" "" "M669del2tccAT" "" "Germline" "yes" "" "0" "" "" "g.94060691_94060692del" "" "likely pathogenic" ""
"0000125799" "21" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Song 2015:26247787}" "" "Gly1961Glu" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000125800" "11" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Song 2015:26247787}" "" "Gly863Ala and Arg2030Stop" "" "Germline" "yes" "rs76157638" "0" "" "" "g.94051698C>G" "" "likely pathogenic" ""
"0000125801" "11" "70" "1" "94471055" "94471055" "subst" "0.00035346" "01695" "ABCA4_000029" "g.94471055C>T" "-" "{PMID:Song 2015:26247787}" "" "Gly863Ala and Arg2030Stop" "" "Germline" "yes" "" "0" "" "" "g.94005499C>T" "" "likely pathogenic" ""
"0000125802" "21" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Song 2015:26247787}" "" "Gly1961Glu" "" "Germline" "-" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000125803" "11" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Song 2015:26247787}" "" "Gly863Ala and Arg2030Stop" "" "Germline" "yes" "rs76157638" "0" "" "" "g.94051698C>G" "" "likely pathogenic" ""
"0000125804" "11" "70" "1" "94471055" "94471055" "subst" "0.00035346" "01695" "ABCA4_000029" "g.94471055C>T" "-" "{PMID:Song 2015:26247787}" "" "Gly863Ala and Arg2030Stop" "" "Germline" "yes" "" "0" "" "" "g.94005499C>T" "" "likely pathogenic" ""
"0000125805" "10" "70" "1" "94496548" "94496548" "subst" "2.43787E-5" "01695" "ABCA4_000088" "g.94496548G>A" "2, 120802, 0, 0.00001656" "{PMID:Sánchez-Alcudia 2014:25342620}" "" "Gly1961Glu" "" "Germline" "-" "" "0" "" "" "g.94030992G>A" "" "likely pathogenic" ""
"0000125806" "21" "50" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "30, 121388, 0, 0.0002471" "{PMID:Sánchez-Alcudia 2014:25342620}" "" "Gly863Ala and Arg2030Stop" "" "Germline" "?" "" "0" "" "" "g.94041345C>A" "" "VUS" ""
"0000125807" "1" "50" "1" "94463396" "94463396" "subst" "0.00599713" "01695" "ABCA4_000139" "g.94463396G>A" "" "{PMID:Valverde 2006:16917483}, {PMID:Riveiro-Alvarez 2013:23755871}" "" "Ex.48 IVS+21C>T Splice" "" "Germline" "" "" "0" "" "" "g.93997840G>A" "" "VUS" ""
"0000125811" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Eisenberger 2013:24265693}" "" "" "" "Germline" "" "rs1801466" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000126921" "21" "50" "1" "94544234" "94544234" "subst" "0" "00006" "ABCA4_000194" "g.94544234T>G" "" "{PMID:Rozet 1999:10874631}" "" "" "" "Germline" "" "" "0" "" "" "g.94078678T>G" "" "VUS" ""
"0000126922" "21" "50" "1" "94517254" "94517254" "subst" "0.00442654" "00006" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Rozet 1999:10874631}" "" "" "" "Germline" "" "rs76157638" "0" "" "" "g.94051698C>G" "" "VUS" ""
"0000126923" "1" "70" "1" "94505622" "94505623" "ins" "0" "01695" "ABCA4_001010" "g.94505622_94505623insNN" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant significantly enriched in >3000 likely Caucasian STGD1 patients compared to the non-Finnish ExAC population" "SUMMARY record" "" "" "0" "" "" "g.94040066_94040067insNN" "" "likely pathogenic (recessive)" "ACMG"
"0000126924" "1" "77" "1" "94517255" "94544233" "del" "0" "01695" "ABCA4_000000" "g.(94517255_94544233)delN[?]" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}" "" "" "variant significantly enriched in >3000 likely Caucasian STGD1 patients compared to the non-Finnish ExAC population" "SUMMARY record" "" "" "0" "" "" "g.(94055111_94078677)delN[?]" "" "VUS" "ACMG"
"0000126925" "1" "50" "1" "94586599" "94586601" "delins" "0" "01695" "ABCA4_000262" "g.94586599_94586601delinsGAC" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94121043_94121045delinsGAC" "" "VUS" "ACMG"
"0000126926" "1" "70" "1" "94458792" "94586602" "del" "0" "01695" "ABCA4_000862" "g.(?_94458792)_(94586602_?)del" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "del gene, c.(?_-1)_(*1_?)del" "deletion entire ABCA4 gene" "SUMMARY record" "" "" "0" "" "" "g.(?_93993236)_(94121046_?)del" "" "likely pathogenic (recessive)" "ACMG"
"0000126927" "1" "70" "1" "94546126" "94546126" "subst" "2.03383E-5" "01695" "ABCA4_000343" "g.94546126G>C" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94080570G>C" "" "likely pathogenic (recessive)" "ACMG"
"0000126928" "1" "50" "1" "94546124" "94546124" "subst" "0" "01695" "ABCA4_000342" "g.94546124A>G" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94080568A>G" "" "VUS" "ACMG"
"0000126929" "1" "90" "1" "94578589" "94578594" "del" "0" "01695" "ABCA4_000249" "g.94578589_94578594del" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "not statistically tested, classification unknown" "SUMMARY record" "" "" "0" "" "" "g.94113033_94113038del" "" "pathogenic (recessive)" "ACMG"
"0000126930" "1" "90" "1" "94546118" "94546118" "subst" "8.13326E-6" "01695" "ABCA4_000082" "g.94546118A>C" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94080562A>C" "" "pathogenic (recessive)" "ACMG"
"0000126931" "1" "90" "1" "94546115" "94546115" "subst" "0" "01695" "ABCA4_000341" "g.94546115A>C" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant significantly enriched in >3000 likely Caucasian STGD1 patients compared to the non-Finnish ExAC population" "SUMMARY record" "" "" "0" "" "" "g.94080559A>C" "" "pathogenic (recessive)" "ACMG"
"0000126932" "1" "90" "1" "94546111" "94546111" "subst" "0" "01695" "ABCA4_000340" "g.94546111T>C" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94080555T>C" "" "pathogenic (recessive)" "ACMG"
"0000126933" "1" "90" "1" "94546098" "94546111" "del" "0" "01695" "ABCA4_000022" "g.94546098_94546111del" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94080542_94080555del" "" "pathogenic (recessive)" "ACMG"
"0000126934" "1" "90" "1" "94546104" "94546104" "dup" "0" "01695" "ABCA4_000339" "g.94546104dup" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94080548dup" "" "pathogenic (recessive)" "ACMG"
"0000126935" "1" "90" "1" "94546098" "94546098" "subst" "0" "01695" "ABCA4_000338" "g.94546098A>C" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "not statistically tested, classification unknown" "SUMMARY record" "" "" "0" "" "" "g.94080542A>C" "" "pathogenic (recessive)" "ACMG"
"0000126936" "1" "70" "1" "94546096" "94546096" "subst" "4.06583E-6" "01695" "ABCA4_000337" "g.94546096T>G" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant significantly enriched in >3000 likely Caucasian STGD1 patients compared to the non-Finnish ExAC population" "SUMMARY record" "" "" "0" "" "" "g.94080540T>G" "" "likely pathogenic (recessive)" "ACMG"
"0000126937" "1" "90" "1" "94546067" "94546067" "subst" "0" "01695" "ABCA4_000336" "g.94546067T>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94080511T>A" "" "pathogenic (recessive)" "ACMG"
"0000126938" "1" "90" "1" "94546047" "94546047" "subst" "0" "01695" "ABCA4_000150" "g.94546047A>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94080491A>T" "" "pathogenic (recessive)" "ACMG"
"0000126939" "1" "90" "1" "94578583" "94578583" "del" "0" "01695" "ABCA4_000248" "g.94578583del" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94113027del" "" "pathogenic (recessive)" "ACMG"
"0000126940" "1" "90" "1" "94546033" "94546033" "subst" "0" "01695" "ABCA4_000335" "g.94546033C>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "not statistically tested, classification unknown" "SUMMARY record" "" "" "0" "" "" "g.94080477C>T" "" "pathogenic (recessive)" "ACMG"
"0000126941" "1" "90" "1" "94545018" "94545018" "subst" "0" "01695" "ABCA4_000333" "g.94545018C>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94079462C>T" "" "pathogenic (recessive)" "ACMG"
"0000126942" "1" "50" "1" "94545023" "94545023" "subst" "4.06299E-6" "01695" "ABCA4_000334" "g.94545023A>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant significantly enriched in >3000 likely Caucasian STGD1 patients compared to the non-Finnish ExAC population" "SUMMARY record" "" "" "0" "" "" "g.94079467A>T" "" "VUS" "ACMG"
"0000126943" "1" "50" "1" "94544977" "94544977" "subst" "0.000544432" "01695" "ABCA4_000332" "g.94544977A>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant frequency lower in a group of >3000 likely Caucasian STGD1 patients than in the ExAC non-Finnish population" "SUMMARY record" "" "" "0" "" "" "g.94079421A>T" "" "VUS" "ACMG"
"0000126944" "1" "50" "1" "94544967" "94544967" "subst" "0" "01695" "ABCA4_000994" "g.94544967T>C" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant significantly enriched in >3000 likely Caucasian STGD1 patients compared to the non-Finnish ExAC population" "SUMMARY record" "" "" "0" "" "" "g.94079411T>C" "" "VUS" "ACMG"
"0000126945" "1" "70" "1" "94544913" "94544913" "subst" "0" "01695" "ABCA4_000331" "g.94544913G>C" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant significantly enriched in >3000 likely Caucasian STGD1 patients compared to the non-Finnish ExAC population" "SUMMARY record" "" "" "0" "" "" "g.94079357G>C" "" "likely pathogenic (recessive)" "ACMG"
"0000126946" "1" "70" "1" "94544909" "94544909" "subst" "4.06111E-6" "01695" "ABCA4_000081" "g.94544909T>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "not statistically tested, classification unknown" "SUMMARY record" "" "" "0" "" "" "g.94079353T>A" "" "likely pathogenic (recessive)" "ACMG"
"0000126947" "1" "50" "1" "94544897" "94544897" "subst" "0" "01695" "ABCA4_000330" "g.94544897G>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant significantly enriched in >3000 likely Caucasian STGD1 patients compared to the non-Finnish ExAC population" "SUMMARY record" "" "" "0" "" "" "g.94079341G>A" "" "VUS" "ACMG"
"0000126948" "1" "90" "1" "94544895" "94544895" "subst" "1.62455E-5" "01695" "ABCA4_000329" "g.94544895G>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94079339G>A" "" "pathogenic (recessive)" "ACMG"
"0000126949" "1" "90" "1" "94544893" "94544893" "del" "0" "01695" "ABCA4_000328" "g.94544893del" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "not statistically tested, classification unknown" "SUMMARY record" "" "" "0" "" "" "g.94079337del" "" "pathogenic (recessive)" "ACMG"
"0000126950" "1" "90" "1" "94578567" "94578567" "subst" "4.06204E-6" "01695" "ABCA4_000247" "g.94578567C>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94113011C>T" "" "pathogenic (recessive)" "ACMG"
"0000126951" "1" "50" "1" "94544884" "94544886" "dup" "0" "01695" "ABCA4_000327" "g.94544884_94544886dup" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94079328_94079330dup" "" "VUS" "ACMG"
"0000126952" "1" "90" "1" "94544877" "94544877" "subst" "4.06124E-6" "01695" "ABCA4_000326" "g.94544877C>G" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94079321C>G" "" "pathogenic (recessive)" "ACMG"
"0000126953" "1" "90" "1" "94578566" "94578566" "subst" "4.06207E-6" "01695" "ABCA4_000246" "g.94578566C>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94113010C>T" "" "pathogenic (recessive)" "ACMG"
"0000126954" "1" "70" "1" "94544264" "94544264" "subst" "0" "01695" "ABCA4_000325" "g.94544264T>C" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94078708T>C" "" "likely pathogenic (recessive)" "ACMG"
"0000126955" "1" "70" "1" "94544257" "94544257" "subst" "0" "01695" "ABCA4_000324" "g.94544257G>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant significantly enriched in >3000 likely Caucasian STGD1 patients compared to the non-Finnish ExAC population" "SUMMARY record" "" "" "0" "" "" "g.94078701G>T" "" "likely pathogenic (recessive)" "ACMG"
"0000126956" "1" "70" "1" "94544249" "94544249" "subst" "8.12196E-6" "01695" "ABCA4_000323" "g.94544249A>G" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94078693A>G" "" "likely pathogenic (recessive)" "ACMG"
"0000126957" "1" "30" "1" "94544234" "94544234" "subst" "0.255245" "01695" "ABCA4_000322" "g.94544234T>C" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94078678T>C" "" "likely benign" "ACMG"
"0000126958" "1" "50" "1" "94544231" "94544231" "subst" "0" "01695" "ABCA4_000321" "g.94544231A>G" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant significantly enriched in >3000 likely Caucasian STGD1 patients compared to the non-Finnish ExAC population" "SUMMARY record" "" "" "0" "" "" "g.94078675A>G" "" "VUS" "ACMG"
"0000126959" "1" "90" "1" "94544209" "94544209" "subst" "0" "01695" "ABCA4_000113" "g.94544209C>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94078653C>T" "" "pathogenic (recessive)" "ACMG"
"0000126960" "1" "50" "1" "94544208" "94544208" "subst" "0.000158364" "01695" "ABCA4_000320" "g.94544208C>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "not statistically tested, classification unknown" "SUMMARY record" "" "" "0" "" "" "g.94078652C>T" "" "VUS" "ACMG"
"0000126961" "1" "90" "1" "94544200" "94544200" "del" "4.06072E-6" "01695" "ABCA4_000319" "g.94544200del" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94078644del" "" "pathogenic (recessive)" "ACMG"
"0000126962" "1" "90" "1" "94544196" "94544196" "del" "0" "01695" "ABCA4_000318" "g.94544196del" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94078640del" "" "pathogenic (recessive)" "ACMG"
"0000126963" "1" "90" "1" "94544185" "94544185" "subst" "8.12137E-6" "01695" "ABCA4_000177" "g.94544185C>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94078629C>T" "" "pathogenic (recessive)" "ACMG"
"0000126964" "1" "50" "1" "94544183" "94544183" "subst" "0.000146186" "01695" "ABCA4_000317" "g.94544183T>C" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94078627T>C" "" "VUS" "ACMG"
"0000126965" "1" "70" "1" "94544167" "94544167" "subst" "8.12269E-6" "01695" "ABCA4_000316" "g.94544167G>C" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant significantly enriched in >3000 likely Caucasian STGD1 patients compared to the non-Finnish ExAC population" "SUMMARY record" "" "" "0" "" "" "g.94078611G>C" "" "likely pathogenic (recessive)" "ACMG"
"0000126966" "1" "90" "1" "94544159" "94544159" "subst" "2.03079E-5" "01695" "ABCA4_000063" "g.94544159A>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant significantly enriched in >3000 likely Caucasian STGD1 patients compared to the non-Finnish ExAC population" "SUMMARY record" "" "" "0" "" "" "g.94078603A>T" "" "pathogenic (recessive)" "ACMG"
"0000126967" "1" "90" "1" "94544158" "94544158" "del" "0" "01695" "ABCA4_000315" "g.94544158del" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94078602del" "" "pathogenic (recessive)" "ACMG"
"0000126968" "1" "50" "1" "94543437" "94543437" "subst" "1.62693E-5" "01695" "ABCA4_000115" "g.94543437G>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94077881G>T" "" "VUS" "ACMG"
"0000126969" "1" "90" "1" "94543426" "94543426" "del" "0" "01695" "ABCA4_000314" "g.94543426del" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94077870del" "" "pathogenic (recessive)" "ACMG"
"0000126970" "1" "90" "1" "94543419" "94543419" "subst" "0" "01695" "ABCA4_000188" "g.94543419T>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "not statistically tested, classification unknown" "SUMMARY record" "" "" "0" "" "" "g.94077863T>A" "" "pathogenic (recessive)" "ACMG"
"0000126971" "1" "90" "1" "94543412" "94543413" "del" "0" "01695" "ABCA4_000313" "g.94543412_94543413del" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94077856_94077857del" "" "pathogenic (recessive)" "ACMG"
"0000126972" "1" "50" "1" "94543389" "94543389" "subst" "0.000861235" "01695" "ABCA4_000312" "g.94543389C>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant frequency lower in a group of >3000 likely Caucasian STGD1 patients than in the ExAC non-Finnish population" "SUMMARY record" "" "" "0" "" "" "g.94077833C>T" "" "VUS" "ACMG"
"0000126973" "1" "50" "1" "94543306" "94543306" "subst" "0" "01695" "ABCA4_000311" "g.94543306G>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant significantly enriched in >3000 likely Caucasian STGD1 patients compared to the non-Finnish ExAC population" "SUMMARY record" "" "" "0" "" "" "g.94077750G>T" "" "VUS" "ACMG"
"0000126974" "1" "90" "1" "94543285" "94543289" "del" "0" "01695" "ABCA4_000310" "g.94543285_94543289del" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94077729_94077733del" "" "pathogenic (recessive)" "ACMG"
"0000126975" "1" "70" "1" "94543281" "94543281" "subst" "4.0661E-6" "01695" "ABCA4_000309" "g.94543281C>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94077725C>A" "" "likely pathogenic (recessive)" "ACMG"
"0000126976" "1" "50" "1" "94543278" "94543278" "subst" "0.000178952" "01695" "ABCA4_000004" "g.94543278G>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant frequency lower in a group of >3000 likely Caucasian STGD1 patients than in the ExAC non-Finnish population" "SUMMARY record" "" "" "0" "" "" "g.94077722G>A" "" "VUS" "ACMG"
"0000126977" "1" "70" "1" "94543271" "94543271" "subst" "0" "01695" "ABCA4_000308" "g.94543271A>C" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94077715A>C" "" "likely pathogenic (recessive)" "ACMG"
"0000126978" "1" "70" "1" "94543269" "94543269" "subst" "0.000179087" "01695" "ABCA4_000307" "g.94543269G>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94077713G>A" "" "likely pathogenic (recessive)" "ACMG"
"0000126979" "1" "50" "1" "94543268" "94543268" "subst" "0.000778106" "01695" "ABCA4_000306" "g.94543268C>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant frequency lower in a group of >3000 likely Caucasian STGD1 patients than in the ExAC non-Finnish population" "SUMMARY record" "" "" "0" "" "" "g.94077712C>T" "" "VUS" "ACMG"
"0000126980" "1" "70" "1" "94543245" "94543245" "subst" "0" "01695" "ABCA4_000305" "g.94543245C>G" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94077689C>G" "" "likely pathogenic (recessive)" "ACMG"
"0000126981" "1" "90" "1" "94528868" "94528868" "del" "0" "01695" "ABCA4_000304" "g.94528868del" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "not statistically tested, classification unknown" "SUMMARY record" "" "" "0" "" "" "g.94063312del" "" "pathogenic (recessive)" "ACMG"
"0000126982" "1" "70" "1" "94528854" "94528854" "subst" "0" "01695" "ABCA4_000186" "g.94528854A>C" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant significantly enriched in >3000 likely Caucasian STGD1 patients compared to the non-Finnish ExAC population" "SUMMARY record" "" "" "0" "" "" "g.94063298A>C" "" "likely pathogenic (recessive)" "ACMG"
"0000126983" "1" "50" "1" "94528851" "94528851" "subst" "0" "01695" "ABCA4_000303" "g.94528851T>G" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant significantly enriched in >3000 likely Caucasian STGD1 patients compared to the non-Finnish ExAC population" "SUMMARY record" "" "" "0" "" "" "g.94063295T>G" "" "VUS" "ACMG"
"0000126984" "1" "50" "1" "94528842" "94528842" "subst" "4.06441E-6" "01695" "ABCA4_000302" "g.94528842T>C" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant significantly enriched in >3000 likely Caucasian STGD1 patients compared to the non-Finnish ExAC population" "SUMMARY record" "" "" "0" "" "" "g.94063286T>C" "" "VUS" "ACMG"
"0000126985" "1" "50" "1" "94528836" "94528836" "subst" "6.50068E-5" "01695" "ABCA4_000079" "g.94528836T>C" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94063280T>C" "" "VUS" "ACMG"
"0000126986" "1" "70" "1" "94578528" "94578528" "subst" "0" "01695" "ABCA4_000244" "g.94578528C>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94112972C>T" "" "likely pathogenic (recessive)" "ACMG"
"0000126987" "1" "90" "1" "94578527" "94578527" "subst" "0" "01695" "ABCA4_000243" "g.94578527A>G" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94112971A>G" "" "pathogenic (recessive)" "ACMG"
"0000126988" "1" "70" "1" "94578524" "94578524" "subst" "0" "01695" "ABCA4_000068" "g.94578524C>G" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant significantly enriched in >3000 likely Caucasian STGD1 patients compared to the non-Finnish ExAC population" "SUMMARY record" "" "" "0" "" "" "g.94112968C>G" "" "likely pathogenic (recessive)" "ACMG"
"0000126989" "1" "90" "1" "94528819" "94528819" "subst" "2.03128E-5" "01695" "ABCA4_000078" "g.94528819G>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94063263G>A" "" "pathogenic (recessive)" "ACMG"
"0000126990" "1" "70" "1" "94578529" "94578529" "subst" "0" "01695" "ABCA4_000245" "g.94578529A>C" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "not statistically tested, classification unknown" "SUMMARY record" "" "" "0" "" "" "g.94112973A>C" "" "likely pathogenic (recessive)" "ACMG"
"0000126991" "1" "90" "1" "94577136" "94577136" "subst" "0" "01695" "ABCA4_000116" "g.94577136C>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94111580C>T" "" "pathogenic (recessive)" "ACMG"
"0000126992" "1" "90" "1" "94577137" "94577137" "subst" "0" "01695" "ABCA4_000242" "g.94577137T>C" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "not statistically tested, classification unknown" "SUMMARY record" "" "" "0" "" "" "g.94111581T>C" "" "pathogenic (recessive)" "ACMG"
"0000126993" "1" "50" "1" "94528815" "94528815" "subst" "0" "01695" "ABCA4_000300" "g.94528815G>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94063259G>T" "" "VUS" "ACMG"
"0000126994" "1" "50" "1" "94528815" "94528815" "subst" "0" "01695" "ABCA4_000301" "g.94528815G>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94063259G>A" "" "VUS" "ACMG"
"0000126995" "1" "90" "1" "94577135" "94577135" "subst" "2.43718E-5" "01695" "ABCA4_000240" "g.94577135C>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94111579C>T" "" "pathogenic (recessive)" "ACMG"
"0000126996" "1" "90" "1" "94577135" "94577135" "subst" "4.06197E-6" "01695" "ABCA4_000241" "g.94577135C>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "not statistically tested, classification unknown" "SUMMARY record" "" "" "0" "" "" "g.94111579C>A" "" "pathogenic (recessive)" "ACMG"
"0000126997" "1" "90" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94063250A>G" "" "pathogenic (recessive)" "ACMG"
"0000126998" "1" "50" "1" "94528783" "94528783" "subst" "0" "01695" "ABCA4_000173" "g.94528783C>G" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant significantly enriched in >3000 likely Caucasian STGD1 patients compared to the non-Finnish ExAC population" "SUMMARY record" "" "" "0" "" "" "g.94063227C>G" "" "VUS" "ACMG"
"0000126999" "1" "90" "1" "94528780" "94528780" "subst" "4.06171E-6" "01695" "ABCA4_000299" "g.94528780C>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94063224C>T" "" "pathogenic (recessive)" "ACMG"
"0000127000" "1" "90" "1" "94577132" "94577132" "subst" "0" "01695" "ABCA4_000239" "g.94577132T>C" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant significantly enriched in >3000 likely Caucasian STGD1 patients compared to the non-Finnish ExAC population" "SUMMARY record" "" "" "0" "" "" "g.94111576T>C" "" "pathogenic (recessive)" "ACMG"
"0000127001" "1" "50" "1" "94528774" "94528774" "subst" "0.00264827" "01695" "ABCA4_000298" "g.94528774C>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant frequency lower in a group of >3000 likely Caucasian STGD1 patients than in the ExAC non-Finnish population" "SUMMARY record" "" "" "0" "" "" "g.94063218C>T" "" "VUS" "ACMG"
"0000127002" "1" "70" "1" "94528769" "94528769" "subst" "0" "01695" "ABCA4_000140" "g.94528769G>C" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94063213G>C" "" "likely pathogenic (recessive)" "ACMG"
"0000127003" "1" "70" "1" "94577129" "94577129" "subst" "4.06154E-6" "01695" "ABCA4_000238" "g.94577129A>G" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94111573A>G" "" "likely pathogenic (recessive)" "ACMG"
"0000127004" "1" "50" "1" "94528729" "94528729" "subst" "0.000255885" "01695" "ABCA4_000297" "g.94528729C>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "not statistically tested, classification unknown" "SUMMARY record" "" "" "0" "" "" "g.94063173C>T" "" "VUS" "ACMG"
"0000127005" "1" "90" "1" "94528714" "94528714" "subst" "0" "01695" "ABCA4_000296" "g.94528714G>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94063158G>A" "" "pathogenic (recessive)" "ACMG"
"0000127006" "1" "90" "1" "94528713" "94528713" "subst" "0" "01695" "ABCA4_000295" "g.94528713C>G" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant significantly enriched in >3000 likely Caucasian STGD1 patients compared to the non-Finnish ExAC population" "SUMMARY record" "" "" "0" "" "" "g.94063157C>G" "" "pathogenic (recessive)" "ACMG"
"0000127007" "1" "90" "1" "94528706" "94528707" "del" "0" "01695" "ABCA4_000294" "g.94528706_94528707del" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94063150_94063151del" "" "pathogenic (recessive)" "ACMG"
"0000127008" "1" "70" "1" "94528702" "94528702" "subst" "1.62468E-5" "01695" "ABCA4_000293" "g.94528702C>G" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94063146C>G" "" "likely pathogenic (recessive)" "ACMG"
"0000127009" "1" "90" "1" "94528680" "94528680" "subst" "0" "01695" "ABCA4_000064" "g.94528680T>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94063124T>A" "" "pathogenic (recessive)" "ACMG"
"0000127010" "1" "70" "1" "94528679" "94528679" "subst" "2.84368E-5" "01695" "ABCA4_000292" "g.94528679C>G" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94063123C>G" "" "likely pathogenic (recessive)" "ACMG"
"0000127011" "1" "50" "1" "94577122" "94577122" "subst" "0" "01695" "ABCA4_000175" "g.94577122G>C" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94111566G>C" "" "VUS" "ACMG"
"0000127012" "1" "90" "1" "94528675" "94528677" "delins" "0" "01695" "ABCA4_000291" "g.94528675_94528677delinsAT" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94063119_94063121delinsAT" "" "pathogenic (recessive)" "ACMG"
"0000127013" "1" "50" "1" "94577121" "94577121" "subst" "0" "01695" "ABCA4_000062" "g.94577121T>C" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant significantly enriched in >3000 likely Caucasian STGD1 patients compared to the non-Finnish ExAC population" "SUMMARY record" "" "" "0" "" "" "g.94111565T>C" "" "VUS" "ACMG"
"0000127014" "1" "90" "1" "94528667" "94528667" "subst" "0" "01695" "ABCA4_000290" "g.94528667C>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94063111C>A" "" "pathogenic (recessive)" "ACMG"
"0000127015" "1" "90" "1" "94528666" "94528666" "subst" "0" "01695" "ABCA4_000289" "g.94528666A>C" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "not statistically tested, classification unknown" "SUMMARY record" "" "" "0" "" "" "g.94063110A>C" "" "pathogenic (recessive)" "ACMG"
"0000127016" "1" "90" "1" "94528132" "94528310" "del" "0" "01695" "ABCA4_000193" "g.(94526316_94528132)_(94528310_94528667)del" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.(94060760_94062576)_(94062754_94063111)del" "" "pathogenic (recessive)" "ACMG"
"0000127017" "1" "90" "1" "94528304" "94528304" "subst" "0" "01695" "ABCA4_000288" "g.94528304C>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94062748C>T" "" "pathogenic (recessive)" "ACMG"
"0000127018" "1" "50" "1" "94528281" "94528281" "subst" "4.07292E-6" "01695" "ABCA4_000287" "g.94528281G>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant significantly enriched in >3000 likely Caucasian STGD1 patients compared to the non-Finnish ExAC population" "SUMMARY record" "" "" "0" "" "" "g.94062725G>A" "" "VUS" "ACMG"
"0000127019" "1" "70" "1" "94577118" "94577118" "subst" "0" "01695" "ABCA4_000185" "g.94577118C>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94111562C>T" "" "likely pathogenic (recessive)" "ACMG"
"0000127020" "1" "50" "1" "94528278" "94528278" "subst" "8.14571E-5" "01695" "ABCA4_000286" "g.94528278C>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94062722C>T" "" "VUS" "ACMG"
"0000127021" "1" "70" "1" "94528272" "94528272" "subst" "4.06984E-6" "01695" "ABCA4_000999" "g.94528272C>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94062716C>A" "" "likely pathogenic (recessive)" "ACMG"
"0000127022" "1" "90" "1" "94577117" "94577117" "subst" "1.62472E-5" "01695" "ABCA4_000237" "g.94577117G>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94111561G>A" "" "pathogenic (recessive)" "ACMG"
"0000127023" "1" "50" "1" "94528270" "94528270" "subst" "0" "01695" "ABCA4_000285" "g.94528270A>C" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94062714A>C" "" "VUS" "ACMG"
"0000127024" "1" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant significantly enriched in >3000 likely Caucasian STGD1 patients compared to the non-Finnish ExAC population; multiple other variant changes at the same position are enriched in >3000 likely Caucasian STGD1 patients, supporting pathogenicity according to ACMG guidelines" "SUMMARY record" "" "" "0" "" "" "g.94062710G>A" "" "pathogenic (recessive)" "ACMG"
"0000127025" "1" "90" "1" "94528265" "94528265" "subst" "2.44212E-5" "01695" "ABCA4_000284" "g.94528265C>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94062709C>T" "" "pathogenic (recessive)" "ACMG"
"0000127026" "1" "90" "1" "94577116" "94577116" "del" "0" "01695" "ABCA4_000236" "g.94577116del" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94111560del" "" "pathogenic (recessive)" "ACMG"
"0000127027" "1" "90" "1" "94528251" "94528251" "subst" "2.84824E-5" "01695" "ABCA4_000281" "g.94528251C>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant significantly enriched in >3000 likely Caucasian STGD1 patients compared to the non-Finnish ExAC population; another variant, giving the same predicted amino acid change, was significantly enriched in the same cohort, supporting its pathogenicity according to ACMG guidelines" "SUMMARY record" "" "" "0" "" "" "g.94062695C>T" "" "pathogenic (recessive)" "ACMG"
"0000127028" "1" "90" "1" "94528251" "94528251" "subst" "0" "01695" "ABCA4_000077" "g.94528251C>G" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant significantly enriched in >3000 likely Caucasian STGD1 patients compared to the non-Finnish ExAC population; another variant, giving the same predicted amino acid change, was significantly enriched in the same cohort, supporting its pathogenicity according to ACMG guidelines" "SUMMARY record" "" "" "0" "" "" "g.94062695C>G" "" "pathogenic (recessive)" "ACMG"
"0000127029" "1" "50" "1" "94528251" "94528251" "subst" "0" "01695" "ABCA4_000283" "g.94528251C>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94062695C>A" "" "VUS" "ACMG"
"0000127030" "1" "90" "1" "94528248" "94528248" "subst" "1.22148E-5" "01695" "ABCA4_000279" "g.94528248A>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94062692A>T" "" "pathogenic (recessive)" "ACMG"
"0000127031" "1" "70" "1" "94528248" "94528248" "subst" "0" "01695" "ABCA4_000280" "g.94528248A>G" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94062692A>G" "" "likely pathogenic (recessive)" "ACMG"
"0000127032" "1" "50" "1" "94528247" "94528247" "subst" "0" "01695" "ABCA4_000278" "g.94528247A>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94062691A>T" "" "VUS" "ACMG"
"0000127033" "1" "70" "1" "94528238" "94528238" "subst" "4.06769E-6" "01695" "ABCA4_000277" "g.94528238A>G" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94062682A>G" "" "likely pathogenic (recessive)" "ACMG"
"0000127034" "1" "90" "1" "94528236" "94528236" "subst" "0" "01695" "ABCA4_000276" "g.94528236G>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94062680G>A" "" "pathogenic (recessive)" "ACMG"
"0000127035" "1" "70" "1" "94528224" "94528224" "subst" "0" "01695" "ABCA4_000275" "g.94528224C>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant significantly enriched in >3000 likely Caucasian STGD1 patients compared to the non-Finnish ExAC population" "SUMMARY record" "" "" "0" "" "" "g.94062668C>T" "" "likely pathogenic (recessive)" "ACMG"
"0000127036" "1" "70" "1" "94577112" "94577112" "subst" "4.06164E-6" "01695" "ABCA4_000051" "g.94577112G>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant significantly enriched in >3000 likely Caucasian STGD1 patients compared to the non-Finnish ExAC population" "SUMMARY record" "" "" "0" "" "" "g.94111556G>A" "" "likely pathogenic (recessive)" "ACMG"
"0000127037" "1" "70" "1" "94528218" "94528218" "subst" "0" "01695" "ABCA4_000273" "g.94528218C>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94062662C>T" "" "likely pathogenic (recessive)" "ACMG"
"0000127038" "1" "70" "1" "94528217" "94528217" "subst" "0" "01695" "ABCA4_000272" "g.94528217C>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94062661C>T" "" "likely pathogenic (recessive)" "ACMG"
"0000127039" "1" "90" "1" "94528205" "94528205" "del" "0" "01695" "ABCA4_000271" "g.94528205del" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94062649del" "" "pathogenic (recessive)" "ACMG"
"0000127040" "1" "70" "1" "94528202" "94528202" "subst" "0" "01695" "ABCA4_000270" "g.94528202T>C" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant significantly enriched in >3000 likely Caucasian STGD1 patients compared to the non-Finnish ExAC population" "SUMMARY record" "" "" "0" "" "" "g.94062646T>C" "" "likely pathogenic (recessive)" "ACMG"
"0000127041" "1" "90" "1" "94528177" "94528177" "del" "0" "01695" "ABCA4_000269" "g.94528177del" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "not statistically tested, classification unknown" "SUMMARY record" "" "" "0" "" "" "g.94062621del" "" "pathogenic (recessive)" "ACMG"
"0000127042" "1" "70" "1" "94528167" "94528167" "subst" "0" "01695" "ABCA4_000145" "g.94528167G>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant significantly enriched in >3000 likely Caucasian STGD1 patients compared to the non-Finnish ExAC population" "SUMMARY record" "" "" "0" "" "" "g.94062611G>T" "" "likely pathogenic (recessive)" "ACMG"
"0000127043" "1" "90" "1" "94528167" "94528167" "subst" "0" "01695" "ABCA4_000268" "g.94528167G>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94062611G>A" "" "pathogenic (recessive)" "ACMG"
"0000127044" "1" "90" "1" "94528164" "94528164" "subst" "2.03336E-5" "01695" "ABCA4_000267" "g.94528164G>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94062608G>A" "" "pathogenic (recessive)" "ACMG"
"0000127045" "1" "70" "1" "94528162" "94528162" "subst" "0" "01695" "ABCA4_000266" "g.94528162C>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant significantly enriched in >3000 likely Caucasian STGD1 patients compared to the non-Finnish ExAC population" "SUMMARY record" "" "" "0" "" "" "g.94062606C>A" "" "likely pathogenic (recessive)" "ACMG"
"0000127046" "1" "70" "1" "94528151" "94528151" "subst" "0" "01695" "ABCA4_000265" "g.94528151G>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94062595G>A" "" "likely pathogenic (recessive)" "ACMG"
"0000127047" "1" "50" "1" "94577105" "94577105" "subst" "0" "01695" "ABCA4_000235" "g.94577105G>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant significantly enriched in >3000 likely Caucasian STGD1 patients compared to the non-Finnish ExAC population" "SUMMARY record" "" "" "0" "" "" "g.94111549G>A" "" "VUS" "ACMG"
"0000127048" "1" "50" "1" "94528148" "94528148" "subst" "0" "01695" "ABCA4_000777" "g.94528148C>G" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94062592C>G" "" "VUS" "ACMG"
"0000127049" "1" "70" "1" "94528146" "94528146" "subst" "0" "01695" "ABCA4_000775" "g.94528146A>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "not statistically tested, classification unknown" "SUMMARY record" "" "" "0" "" "" "g.94062590A>T" "" "likely pathogenic (recessive)" "ACMG"
"0000127050" "1" "50" "1" "94528146" "94528146" "subst" "0" "01695" "ABCA4_000776" "g.94528146A>G" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94062590A>G" "" "VUS" "ACMG"
"0000127051" "1" "30" "1" "94528143" "94528143" "subst" "0.00124448" "01695" "ABCA4_000076" "g.94528143C>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94062587C>T" "" "likely benign" "ACMG"
"0000127052" "1" "50" "1" "94528142" "94528142" "subst" "0.00153303" "01695" "ABCA4_000125" "g.94528142A>C" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant frequency lower in a group of >3000 likely Caucasian STGD1 patients than in the ExAC non-Finnish population" "SUMMARY record" "" "" "0" "" "" "g.94062586A>C" "" "VUS" "ACMG"
"0000127053" "1" "90" "1" "94528137" "94528137" "subst" "2.03363E-5" "01695" "ABCA4_000774" "g.94528137C>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant significantly enriched in >3000 likely Caucasian STGD1 patients compared to the non-Finnish ExAC population" "SUMMARY record" "" "" "0" "" "" "g.94062581C>T" "" "pathogenic (recessive)" "ACMG"
"0000127054" "1" "90" "1" "94528132" "94528132" "subst" "4.06835E-6" "01695" "ABCA4_000773" "g.94528132C>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94062576C>T" "" "pathogenic (recessive)" "ACMG"
"0000127055" "1" "50" "1" "94528131" "94528131" "subst" "0" "01695" "ABCA4_000772" "g.94528131A>G" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94062575A>G" "" "VUS" "ACMG"
"0000127056" "1" "90" "1" "94526316" "94526316" "subst" "4.25152E-6" "01695" "ABCA4_000118" "g.94526316C>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94060760C>T" "" "pathogenic (recessive)" "ACMG"
"0000127057" "1" "90" "1" "94526317" "94526317" "subst" "0" "01695" "ABCA4_000770" "g.94526317T>C" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94060761T>C" "" "pathogenic (recessive)" "ACMG"
"0000127058" "1" "90" "1" "94577102" "94577102" "subst" "4.06161E-6" "01695" "ABCA4_000033" "g.94577102C>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94111546C>T" "" "pathogenic (recessive)" "ACMG"
"0000127059" "1" "50" "1" "94577102" "94577102" "subst" "0" "01695" "ABCA4_000234" "g.94577102C>G" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant significantly enriched in >3000 likely Caucasian STGD1 patients compared to the non-Finnish ExAC population; multiple other variant changes at the same position are enriched in >3000 likely Caucasian STGD1 patients, supporting pathogenicity according to ACMG guidelines" "SUMMARY record" "" "" "0" "" "" "g.94111546C>G" "" "VUS" "ACMG"
"0000127060" "1" "50" "1" "94526301" "94526301" "subst" "0" "01695" "ABCA4_000769" "g.94526301A>C" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94060745A>C" "" "VUS" "ACMG"
"0000127061" "1" "90" "1" "94526296" "94526296" "subst" "1.64555E-5" "01695" "ABCA4_000768" "g.94526296G>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant significantly enriched in >3000 likely Caucasian STGD1 patients compared to the non-Finnish ExAC population; multiple other variant changes at the same position are enriched in >3000 likely Caucasian STGD1 patients, supporting pathogenicity according to ACMG guidelines" "SUMMARY record" "" "" "0" "" "" "g.94060740G>A" "" "pathogenic (recessive)" "ACMG"
"0000127062" "1" "90" "1" "94526295" "94526295" "subst" "3.69731E-5" "01695" "ABCA4_000114" "g.94526295C>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94060739C>T" "" "pathogenic (recessive)" "ACMG"
"0000127063" "1" "50" "1" "94526289" "94526289" "subst" "0.000417202" "01695" "ABCA4_000767" "g.94526289A>C" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant frequency lower in a group of >3000 likely Caucasian STGD1 patients than in the ExAC non-Finnish population" "SUMMARY record" "" "" "0" "" "" "g.94060733A>C" "" "VUS" "ACMG"
"0000127064" "1" "50" "1" "94526286" "94526286" "subst" "0" "01695" "ABCA4_000766" "g.94526286G>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94060730G>A" "" "VUS" "ACMG"
"0000127065" "1" "50" "1" "94526276" "94526276" "subst" "0" "01695" "ABCA4_000765" "g.94526276C>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant significantly enriched in >3000 likely Caucasian STGD1 patients compared to the non-Finnish ExAC population" "SUMMARY record" "" "" "0" "" "" "g.94060720C>T" "" "VUS" "ACMG"
"0000127066" "1" "90" "1" "94526270" "94526270" "dup" "0" "01695" "ABCA4_000764" "g.94526270dup" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "c.1983_1984insG" "" "SUMMARY record" "" "" "0" "" "" "g.94060714dup" "" "pathogenic (recessive)" "ACMG"
"0000127067" "1" "90" "1" "94526265" "94526265" "subst" "0" "01695" "ABCA4_000143" "g.94526265C>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94060709C>T" "" "pathogenic (recessive)" "ACMG"
"0000127068" "1" "50" "1" "94526264" "94526264" "subst" "0" "01695" "ABCA4_000763" "g.94526264C>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94060708C>A" "" "VUS" "ACMG"
"0000127069" "1" "90" "1" "94526258" "94526258" "subst" "4.07183E-6" "01695" "ABCA4_000762" "g.94526258G>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94060702G>T" "" "pathogenic (recessive)" "ACMG"
"0000127070" "1" "70" "1" "94586601" "94586601" "subst" "8.12156E-6" "01695" "ABCA4_000264" "g.94586601T>C" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94121045T>C" "" "likely pathogenic (recessive)" "ACMG"
"0000127071" "1" "90" "1" "94526247" "94526248" "del" "0" "01695" "ABCA4_000761" "g.94526247_94526248del" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94060691_94060692del" "" "pathogenic (recessive)" "ACMG"
"0000127072" "1" "90" "1" "94526230" "94526230" "subst" "7.32136E-5" "01695" "ABCA4_000760" "g.94526230C>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant significantly enriched in >3000 likely Caucasian STGD1 patients compared to the non-Finnish ExAC population" "SUMMARY record" "" "" "0" "" "" "g.94060674C>T" "" "pathogenic (recessive)" "ACMG"
"0000127073" "1" "70" "1" "94526219" "94526219" "subst" "4.06673E-6" "01695" "ABCA4_000759" "g.94526219C>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant significantly enriched in >3000 likely Caucasian STGD1 patients compared to the non-Finnish ExAC population" "SUMMARY record" "" "" "0" "" "" "g.94060663C>A" "" "likely pathogenic (recessive)" "ACMG"
"0000127074" "1" "90" "1" "94577093" "94577093" "subst" "0" "01695" "ABCA4_000178" "g.94577093G>C" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94111537G>C" "" "pathogenic (recessive)" "ACMG"
"0000127075" "1" "90" "1" "94577093" "94577093" "subst" "8.12394E-6" "01695" "ABCA4_000147" "g.94577093G>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94111537G>A" "" "pathogenic (recessive)" "ACMG"
"0000127076" "1" "90" "1" "94526212" "94526212" "subst" "1.22012E-5" "01695" "ABCA4_000075" "g.94526212G>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94060656G>A" "" "pathogenic (recessive)" "ACMG"
"0000127077" "1" "50" "1" "94526211" "94526211" "subst" "2.43974E-5" "01695" "ABCA4_000758" "g.94526211C>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94060655C>T" "" "VUS" "ACMG"
"0000127078" "1" "70" "1" "94526196" "94526196" "subst" "0" "01695" "ABCA4_000757" "g.94526196A>G" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94060640A>G" "" "likely pathogenic (recessive)" "ACMG"
"0000127079" "1" "90" "1" "94526186" "94526186" "del" "0" "01695" "ABCA4_000754" "g.94526186del" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94060630del" "" "pathogenic (recessive)" "ACMG"
"0000127080" "1" "70" "1" "94526184" "94526184" "subst" "0" "01695" "ABCA4_000756" "g.94526184C>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94060628C>T" "" "likely pathogenic (recessive)" "ACMG"
"0000127081" "1" "90" "1" "94526184" "94526184" "subst" "0" "01695" "ABCA4_000755" "g.94526184C>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94060628C>A" "" "pathogenic (recessive)" "ACMG"
"0000127082" "1" "90" "1" "94577090" "94577090" "subst" "0" "01695" "ABCA4_000233" "g.94577090C>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94111534C>T" "" "pathogenic (recessive)" "ACMG"
"0000127083" "1" "90" "1" "94526163" "94526163" "subst" "0" "01695" "ABCA4_000753" "g.94526163C>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94060607C>T" "" "pathogenic (recessive)" "ACMG"
"0000127084" "1" "90" "1" "94526154" "94526154" "subst" "4.06441E-6" "01695" "ABCA4_000752" "g.94526154C>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94060598C>T" "" "pathogenic (recessive)" "ACMG"
"0000127085" "1" "50" "1" "94526125" "94526125" "subst" "0" "01695" "ABCA4_000751" "g.94526125T>C" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant significantly enriched in >3000 likely Caucasian STGD1 patients compared to the non-Finnish ExAC population" "SUMMARY record" "" "" "0" "" "" "g.94060569T>C" "" "VUS" "ACMG"
"0000127086" "1" "50" "1" "94526106" "94526106" "subst" "2.43893E-5" "01695" "ABCA4_000750" "g.94526106G>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94060550G>A" "" "VUS" "ACMG"
"0000127087" "1" "90" "1" "94577082" "94577082" "subst" "2.84315E-5" "01695" "ABCA4_000232" "g.94577082C>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94111526C>T" "" "pathogenic (recessive)" "ACMG"
"0000127088" "1" "90" "1" "94526092" "94526092" "subst" "0" "01695" "ABCA4_000748" "g.94526092C>G" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94060536C>G" "" "pathogenic (recessive)" "ACMG"
"0000127089" "1" "90" "1" "94526092" "94526092" "subst" "0" "01695" "ABCA4_000749" "g.94526092C>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94060536C>A" "" "pathogenic (recessive)" "ACMG"
"0000127090" "1" "70" "1" "94522386" "94522386" "subst" "0" "01695" "ABCA4_000746" "g.94522386C>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant significantly enriched in >3000 likely Caucasian STGD1 patients compared to the non-Finnish ExAC population" "SUMMARY record" "" "" "0" "" "" "g.94056830C>T" "" "likely pathogenic (recessive)" "ACMG"
"0000127091" "1" "50" "1" "94522347" "94522358" "del" "0" "01695" "ABCA4_000745" "g.94522347_94522358del" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94056791_94056802del" "" "VUS" "ACMG"
"0000127092" "1" "90" "1" "94522300" "94522300" "del" "0" "01695" "ABCA4_000744" "g.94522300del" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94056744del" "" "pathogenic (recessive)" "ACMG"
"0000127093" "1" "90" "1" "94577073" "94577073" "subst" "0" "01695" "ABCA4_000231" "g.94577073A>C" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94111517A>C" "" "pathogenic (recessive)" "ACMG"
"0000127094" "1" "70" "1" "94522296" "94522296" "subst" "0" "01695" "ABCA4_000743" "g.94522296C>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94056740C>T" "" "likely pathogenic (recessive)" "ACMG"
"0000127095" "1" "70" "1" "94522254" "94522254" "subst" "0" "01695" "ABCA4_000742" "g.94522254G>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94056698G>T" "" "likely pathogenic (recessive)" "ACMG"
"0000127096" "1" "70" "1" "94522236" "94522250" "del" "0" "01695" "ABCA4_000735" "g.94522236_94522250del" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94056680_94056694del" "" "likely pathogenic (recessive)" "ACMG"
"0000127097" "1" "50" "1" "94522248" "94522248" "subst" "0" "01695" "ABCA4_000741" "g.94522248C>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94056692C>T" "" "VUS" "ACMG"
"0000127098" "1" "70" "1" "94522246" "94522247" "delins" "0" "01695" "ABCA4_000187" "g.94522246_94522247delinsG" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94056690_94056691delinsG" "" "likely pathogenic (recessive)" "ACMG"
"0000127099" "1" "90" "1" "94522244" "94522247" "delins" "0" "01695" "ABCA4_000739" "g.94522244_94522247delinsCCT" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94056688_94056691delinsCCT" "" "pathogenic (recessive)" "ACMG"
"0000127100" "1" "50" "1" "94522245" "94522245" "subst" "0" "01695" "ABCA4_000740" "g.94522245C>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94056689C>T" "" "VUS" "ACMG"
"0000127101" "1" "50" "1" "94522244" "94522244" "subst" "0" "01695" "ABCA4_000738" "g.94522244A>C" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94056688A>C" "" "VUS" "ACMG"
"0000127102" "1" "50" "1" "94522242" "94522242" "subst" "4.06636E-6" "01695" "ABCA4_000737" "g.94522242C>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94056686C>A" "" "VUS" "ACMG"
"0000127103" "1" "90" "1" "94586580" "94586580" "subst" "0" "01695" "ABCA4_000260" "g.94586580G>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "not statistically tested, classification unknown" "SUMMARY record" "" "" "0" "" "" "g.94121024G>A" "" "pathogenic (recessive)" "ACMG"
"0000127104" "1" "90" "1" "94522239" "94522239" "subst" "2.03305E-5" "01695" "ABCA4_000736" "g.94522239A>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94056683A>T" "" "pathogenic (recessive)" "ACMG"
"0000127105" "1" "50" "1" "94577066" "94577066" "subst" "0" "01695" "ABCA4_000230" "g.94577066A>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant significantly enriched in >3000 likely Caucasian STGD1 patients compared to the non-Finnish ExAC population" "SUMMARY record" "" "" "0" "" "" "g.94111510A>T" "" "VUS" "ACMG"
"0000127106" "1" "90" "1" "94522202" "94522202" "subst" "0" "01695" "ABCA4_000734" "g.94522202G>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94056646G>T" "" "pathogenic (recessive)" "ACMG"
"0000127107" "1" "90" "1" "94522194" "94522194" "subst" "0" "01695" "ABCA4_000733" "g.94522194C>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94056638C>T" "" "pathogenic (recessive)" "ACMG"
"0000127108" "1" "70" "1" "94522156" "94522156" "subst" "0" "01695" "ABCA4_000732" "g.94522156C>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94056600C>T" "" "likely pathogenic (recessive)" "ACMG"
"0000127109" "1" "50" "1" "94522152" "94522152" "subst" "0" "01695" "ABCA4_000731" "g.94522152C>G" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94056596C>G" "" "VUS" "ACMG"
"0000127110" "1" "90" "1" "94520855" "94520870" "del" "0" "01695" "ABCA4_000730" "g.94520855_94520870del" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94055299_94055314del" "" "pathogenic (recessive)" "ACMG"
"0000127111" "1" "30" "1" "94520869" "94520869" "subst" "0" "01695" "ABCA4_000163" "g.94520869G>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant significantly enriched in >3000 likely Caucasian STGD1 patients compared to the non-Finnish ExAC population" "SUMMARY record" "" "" "0" "" "" "g.94055313G>A" "" "likely benign" "ACMG"
"0000127112" "1" "70" "1" "94520864" "94520864" "subst" "0" "01695" "ABCA4_000166" "g.94520864A>G" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94055308A>G" "" "likely pathogenic (recessive)" "ACMG"
"0000127113" "1" "90" "1" "94577055" "94577056" "del" "0" "01695" "ABCA4_000229" "g.94577055_94577056del" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "not statistically tested, classification unknown" "SUMMARY record" "" "" "0" "" "" "g.94111499_94111500del" "" "pathogenic (recessive)" "ACMG"
"0000127114" "1" "90" "1" "94520853" "94520853" "subst" "8.14783E-6" "01695" "ABCA4_000729" "g.94520853C>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant significantly enriched in >3000 likely Caucasian STGD1 patients compared to the non-Finnish ExAC population" "SUMMARY record" "" "" "0" "" "" "g.94055297C>T" "" "pathogenic (recessive)" "ACMG"
"0000127115" "1" "90" "1" "94520847" "94520847" "del" "0" "01695" "ABCA4_000728" "g.94520847del" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94055291del" "" "pathogenic (recessive)" "ACMG"
"0000127116" "1" "90" "1" "94520830" "94520830" "subst" "0" "01695" "ABCA4_000727" "g.94520830G>C" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "not statistically tested, classification unknown" "SUMMARY record" "" "" "0" "" "" "g.94055274G>C" "" "pathogenic (recessive)" "ACMG"
"0000127117" "1" "70" "1" "94520817" "94520817" "subst" "0" "01695" "ABCA4_000726" "g.94520817C>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "not statistically tested, classification unknown" "SUMMARY record" "" "" "0" "" "" "g.94055261C>T" "" "likely pathogenic (recessive)" "ACMG"
"0000127118" "1" "90" "1" "94520801" "94520801" "subst" "0.000211489" "01695" "ABCA4_000724" "g.94520801C>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94055245C>T" "" "pathogenic (recessive)" "ACMG"
"0000127119" "1" "50" "1" "94520801" "94520801" "subst" "0" "01695" "ABCA4_000725" "g.94520801C>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94055245C>A" "" "VUS" "ACMG"
"0000127120" "1" "90" "1" "94520793" "94520793" "subst" "8.13292E-6" "01695" "ABCA4_000723" "g.94520793A>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94055237A>T" "" "pathogenic (recessive)" "ACMG"
"0000127121" "1" "90" "1" "94577046" "94577049" "del" "0" "01695" "ABCA4_000228" "g.94577046_94577049del" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94111490_94111493del" "" "pathogenic (recessive)" "ACMG"
"0000127122" "1" "90" "1" "94577046" "94577049" "dup" "0" "01695" "ABCA4_000227" "g.94577046_94577049dup" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94111490_94111493dup" "" "pathogenic (recessive)" "ACMG"
"0000127123" "1" "50" "1" "94520784" "94520784" "subst" "0" "01695" "ABCA4_000174" "g.94520784T>C" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94055228T>C" "" "VUS" "ACMG"
"0000127124" "1" "50" "1" "94520783" "94520783" "subst" "0" "01695" "ABCA4_000722" "g.94520783A>G" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94055227A>G" "" "VUS" "ACMG"
"0000127125" "1" "50" "1" "94520768" "94520768" "subst" "0.00016668" "01695" "ABCA4_000721" "g.94520768G>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "not statistically tested, classification unknown" "SUMMARY record" "" "" "0" "" "" "g.94055212G>A" "" "VUS" "ACMG"
"0000127126" "1" "90" "1" "94520744" "94520744" "del" "0" "01695" "ABCA4_000720" "g.94520744del" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94055188del" "" "pathogenic (recessive)" "ACMG"
"0000127127" "1" "50" "1" "94520744" "94520744" "subst" "0" "01695" "ABCA4_000719" "g.94520744A>G" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94055188A>G" "" "VUS" "ACMG"
"0000127128" "1" "50" "1" "94520735" "94520735" "subst" "0" "01695" "ABCA4_000718" "g.94520735A>C" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94055179A>C" "" "VUS" "ACMG"
"0000127129" "1" "90" "1" "94520733" "94520733" "subst" "4.06345E-6" "01695" "ABCA4_000717" "g.94520733G>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94055177G>A" "" "pathogenic (recessive)" "ACMG"
"0000127130" "1" "70" "1" "94520723" "94520723" "subst" "0" "01695" "ABCA4_000716" "g.94520723A>C" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant significantly enriched in >3000 likely Caucasian STGD1 patients compared to the non-Finnish ExAC population" "SUMMARY record" "" "" "0" "" "" "g.94055167A>C" "" "likely pathogenic (recessive)" "ACMG"
"0000127131" "1" "70" "1" "94520718" "94520718" "subst" "0" "01695" "ABCA4_000161" "g.94520718C>G" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94055162C>G" "" "likely pathogenic (recessive)" "ACMG"
"0000127132" "1" "50" "1" "94520711" "94520711" "subst" "0" "01695" "ABCA4_000715" "g.94520711G>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant significantly enriched in >3000 likely Caucasian STGD1 patients compared to the non-Finnish ExAC population" "SUMMARY record" "" "" "0" "" "" "g.94055155G>T" "" "VUS" "ACMG"
"0000127133" "1" "50" "1" "94520708" "94520708" "subst" "0.00102774" "01695" "ABCA4_000074" "g.94520708A>G" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant significantly enriched in >3000 likely Caucasian STGD1 patients compared to the non-Finnish ExAC population" "SUMMARY record" "" "" "0" "" "" "g.94055152A>G" "" "VUS" "ACMG"
"0000127134" "1" "70" "1" "94520705" "94520705" "subst" "0" "01695" "ABCA4_000714" "g.94520705T>C" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94055149T>C" "" "likely pathogenic (recessive)" "ACMG"
"0000127135" "1" "70" "1" "94520702" "94520702" "subst" "0" "01695" "ABCA4_000713" "g.94520702C>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94055146C>T" "" "likely pathogenic (recessive)" "ACMG"
"0000127136" "1" "50" "1" "94520694" "94520694" "subst" "8.12414E-6" "01695" "ABCA4_000712" "g.94520694C>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant significantly enriched in >3000 likely Caucasian STGD1 patients compared to the non-Finnish ExAC population" "SUMMARY record" "" "" "0" "" "" "g.94055138C>T" "" "VUS" "ACMG"
"0000127137" "1" "90" "1" "94520690" "94520690" "subst" "2.03102E-5" "01695" "ABCA4_000149" "g.94520690C>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94055134C>T" "" "pathogenic (recessive)" "ACMG"
"0000127138" "1" "90" "1" "94520686" "94520693" "del" "0" "01695" "ABCA4_000708" "g.94520686_94520693del" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "not statistically tested, classification unknown" "SUMMARY record" "" "" "0" "" "" "g.94055130_94055137del" "" "pathogenic (recessive)" "ACMG"
"0000127139" "1" "90" "1" "94520689" "94520689" "subst" "0" "01695" "ABCA4_000711" "g.94520689C>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94055133C>T" "" "pathogenic (recessive)" "ACMG"
"0000127140" "1" "90" "1" "94520686" "94520686" "subst" "0" "01695" "ABCA4_000710" "g.94520686G>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94055130G>T" "" "pathogenic (recessive)" "ACMG"
"0000127141" "1" "70" "1" "94520684" "94520684" "del" "0" "01695" "ABCA4_000709" "g.94520684del" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94055128del" "" "likely pathogenic (recessive)" "ACMG"
"0000127142" "1" "90" "1" "94520665" "94520665" "subst" "0" "01695" "ABCA4_000707" "g.94520665A>G" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94055109A>G" "" "pathogenic (recessive)" "ACMG"
"0000127143" "1" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "rs76157638" "0" "" "" "g.94051698C>G" "" "pathogenic (!)" "ACMG"
"0000127144" "1" "70" "1" "94517234" "94517234" "subst" "0" "01695" "ABCA4_000073" "g.94517234G>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "not statistically tested, classification unknown" "SUMMARY record" "" "" "0" "" "" "g.94051678G>A" "" "likely pathogenic (recessive)" "ACMG"
"0000127145" "1" "70" "1" "94517233" "94517233" "subst" "4.06161E-6" "01695" "ABCA4_000706" "g.94517233G>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94051677G>A" "" "likely pathogenic (recessive)" "ACMG"
"0000127146" "1" "90" "1" "94517225" "94517226" "del" "0" "01695" "ABCA4_000704" "g.94517225_94517226del" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94051669_94051670del" "" "pathogenic (recessive)" "ACMG"
"0000127147" "1" "90" "1" "94517226" "94517226" "subst" "0" "01695" "ABCA4_000705" "g.94517226G>C" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "not statistically tested, classification unknown" "SUMMARY record" "" "" "0" "" "" "g.94051670G>C" "" "pathogenic (recessive)" "ACMG"
"0000127148" "1" "70" "1" "94517225" "94517225" "subst" "8.12249E-6" "01695" "ABCA4_000703" "g.94517225A>G" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant significantly enriched in >3000 likely Caucasian STGD1 patients compared to the non-Finnish ExAC population" "SUMMARY record" "" "" "0" "" "" "g.94051669A>G" "" "likely pathogenic (recessive)" "ACMG"
"0000127149" "1" "90" "1" "94517215" "94517216" "ins" "0" "01695" "ABCA4_000702" "g.94517215_94517216insAAA" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94051659_94051660insAAA" "" "pathogenic (recessive)" "ACMG"
"0000127150" "1" "50" "1" "94514390" "94515419" "del" "0" "01695" "ABCA4_000698" "g.94514390_94515419del" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94048834_94049863del" "" "VUS" "ACMG"
"0000127151" "1" "90" "1" "94577031" "94577031" "subst" "0" "01695" "ABCA4_000226" "g.94577031C>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "not statistically tested, classification unknown" "SUMMARY record" "" "" "0" "" "" "g.94111475C>A" "" "pathogenic (recessive)" "ACMG"
"0000127152" "1" "50" "1" "94514481" "94514481" "subst" "0" "01695" "ABCA4_000701" "g.94514481T>C" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant significantly enriched in >3000 likely Caucasian STGD1 patients compared to the non-Finnish ExAC population" "SUMMARY record" "" "" "0" "" "" "g.94048925T>C" "" "VUS" "ACMG"
"0000127153" "1" "50" "1" "94514477" "94514477" "subst" "0.00118992" "01695" "ABCA4_000700" "g.94514477G>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant frequency lower in a group of >3000 likely Caucasian STGD1 patients than in the ExAC non-Finnish population" "SUMMARY record" "" "" "0" "" "" "g.94048921G>A" "" "VUS" "ACMG"
"0000127154" "1" "50" "1" "94514466" "94514466" "subst" "0.00192081" "01695" "ABCA4_000008" "g.94514466T>C" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant frequency lower in a group of >3000 likely Caucasian STGD1 patients than in the ExAC non-Finnish population" "SUMMARY record" "" "" "0" "" "" "g.94048910T>C" "" "VUS" "ACMG"
"0000127155" "1" "90" "1" "94514455" "94514455" "del" "0" "01695" "ABCA4_000699" "g.94514455del" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "not statistically tested, classification unknown" "SUMMARY record" "" "" "0" "" "" "g.94048899del" "" "pathogenic (recessive)" "ACMG"
"0000127156" "1" "70" "1" "94512611" "94512611" "subst" "0" "01695" "ABCA4_000697" "g.94512611C>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94047055C>A" "" "likely pathogenic (recessive)" "ACMG"
"0000127157" "1" "70" "1" "94512602" "94512602" "subst" "0.000369717" "01695" "ABCA4_000052" "g.94512602C>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant significantly enriched in >3000 likely Caucasian STGD1 patients compared to the non-Finnish ExAC population" "SUMMARY record" "" "" "0" "" "" "g.94047046C>T" "" "likely pathogenic (recessive)" "ACMG"
"0000127158" "1" "50" "1" "94512595" "94512595" "subst" "0" "01695" "ABCA4_000180" "g.94512595T>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "not statistically tested, classification unknown" "SUMMARY record" "" "" "0" "" "" "g.94047039T>A" "" "VUS" "ACMG"
"0000127159" "1" "70" "1" "94512589" "94512589" "subst" "4.06184E-6" "01695" "ABCA4_000696" "g.94512589A>G" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant significantly enriched in >3000 likely Caucasian STGD1 patients compared to the non-Finnish ExAC population" "SUMMARY record" "" "" "0" "" "" "g.94047033A>G" "" "likely pathogenic (recessive)" "ACMG"
"0000127160" "1" "70" "1" "94512580" "94512580" "subst" "2.8431E-5" "01695" "ABCA4_000695" "g.94512580A>G" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "not statistically tested, classification unknown" "SUMMARY record" "" "" "0" "" "" "g.94047024A>G" "" "likely pathogenic (recessive)" "ACMG"
"0000127161" "1" "30" "1" "94512574" "94512574" "subst" "0.00025589" "01695" "ABCA4_000694" "g.94512574G>C" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant frequency lower in a group of >3000 likely Caucasian STGD1 patients than in the ExAC non-Finnish population" "SUMMARY record" "" "" "0" "" "" "g.94047018G>C" "" "likely benign" "ACMG"
"0000127162" "1" "70" "1" "94512566" "94512566" "subst" "7.31149E-5" "01695" "ABCA4_000693" "g.94512566G>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94047010G>A" "" "likely pathogenic (recessive)" "ACMG"
"0000127163" "1" "30" "1" "94512565" "94512565" "subst" "0.030364" "01695" "ABCA4_000002" "g.94512565C>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94047009C>T" "" "likely benign" "ACMG"
"0000127164" "1" "90" "1" "94512565" "94512565" "del" "0" "01695" "ABCA4_000692" "g.94512565del" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94047009del" "" "pathogenic (recessive)" "ACMG"
"0000127165" "1" "70" "1" "94512541" "94512541" "subst" "0" "01695" "ABCA4_000066" "g.94512541A>G" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant significantly enriched in >3000 likely Caucasian STGD1 patients compared to the non-Finnish ExAC population" "SUMMARY record" "" "" "0" "" "" "g.94046985A>G" "" "likely pathogenic (recessive)" "ACMG"
"0000127166" "1" "50" "1" "94512533" "94512533" "subst" "0" "01695" "ABCA4_000133" "g.94512533A>C" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant significantly enriched in >3000 likely Caucasian STGD1 patients compared to the non-Finnish ExAC population; multiple other variant changes at the same position are enriched in >3000 likely Caucasian STGD1 patients, supporting pathogenicity according to ACMG guidelines" "SUMMARY record" "" "" "0" "" "" "g.94046977A>C" "" "VUS" "ACMG"
"0000127167" "1" "50" "1" "94512532" "94512532" "subst" "0" "01695" "ABCA4_000691" "g.94512532T>G" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94046976T>G" "" "VUS" "ACMG"
"0000127168" "1" "70" "1" "94512529" "94512529" "subst" "0" "01695" "ABCA4_000690" "g.94512529T>C" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94046973T>C" "" "likely pathogenic (recessive)" "ACMG"
"0000127169" "1" "70" "1" "94512524" "94512524" "subst" "0" "01695" "ABCA4_000689" "g.94512524G>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94046968G>T" "" "likely pathogenic (recessive)" "ACMG"
"0000127170" "1" "90" "1" "94577010" "94577010" "subst" "4.06679E-6" "01695" "ABCA4_000225" "g.94577010T>G" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94111454T>G" "" "pathogenic (recessive)" "ACMG"
"0000127171" "1" "90" "1" "94577010" "94577010" "subst" "1.22004E-5" "01695" "ABCA4_000224" "g.94577010T>C" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94111454T>C" "" "pathogenic (recessive)" "ACMG"
"0000127172" "1" "50" "1" "94512523" "94512523" "subst" "0" "01695" "ABCA4_000688" "g.94512523T>C" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94046967T>C" "" "VUS" "ACMG"
"0000127173" "1" "70" "1" "94512518" "94512518" "subst" "1.62517E-5" "01695" "ABCA4_000687" "g.94512518T>C" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94046962T>C" "" "likely pathogenic (recessive)" "ACMG"
"0000127174" "1" "90" "1" "94512517" "94512517" "subst" "0" "01695" "ABCA4_000686" "g.94512517G>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94046961G>A" "" "pathogenic (recessive)" "ACMG"
"0000127175" "1" "90" "1" "94577011" "94577011" "del" "0" "01695" "ABCA4_000160" "g.94577011del" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94111455del" "" "pathogenic (recessive)" "ACMG"
"0000127176" "1" "90" "1" "94512510" "94512510" "del" "0" "01695" "ABCA4_000119" "g.94512510del" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94046954del" "" "pathogenic (recessive)" "ACMG"
"0000127177" "1" "90" "1" "94512507" "94512507" "del" "0" "01695" "ABCA4_000155" "g.94512507del" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94046951del" "" "pathogenic (recessive)" "ACMG"
"0000127178" "1" "70" "1" "94577008" "94577008" "subst" "0" "01695" "ABCA4_000223" "g.94577008G>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94111452G>T" "" "likely pathogenic (recessive)" "ACMG"
"0000127179" "1" "70" "1" "94512500" "94512500" "subst" "0" "01695" "ABCA4_000684" "g.94512500T>C" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant significantly enriched in >3000 likely Caucasian STGD1 patients compared to the non-Finnish ExAC population; located in the ATPase domain, supporting pathogenicity according to ACMG guidelines" "SUMMARY record" "" "" "0" "" "" "g.94046944T>C" "" "likely pathogenic (recessive)" "ACMG"
"0000127180" "1" "70" "1" "94512500" "94512500" "subst" "0" "01695" "ABCA4_000685" "g.94512500T>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant significantly enriched in >3000 likely Caucasian STGD1 patients compared to the non-Finnish ExAC population; located in the ATPase domain, supporting pathogenicity according to ACMG guidelines" "SUMMARY record" "" "" "0" "" "" "g.94046944T>A" "" "likely pathogenic (recessive)" "ACMG"
"0000127181" "1" "90" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant significantly enriched in >3000 likely Caucasian STGD1 patients compared to the non-Finnish ExAC population; located in the ATPase domain, supporting pathogenicity according to ACMG guidelines" "SUMMARY record" "" "" "0" "" "" "g.94046943T>C" "" "pathogenic (recessive)" "ACMG"
"0000127182" "1" "70" "1" "94512498" "94512498" "subst" "0" "01695" "ABCA4_000683" "g.94512498A>C" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94046942A>C" "" "likely pathogenic (recessive)" "ACMG"
"0000127183" "1" "50" "1" "94512487" "94512487" "subst" "0" "01695" "ABCA4_000682" "g.94512487T>C" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94046931T>C" "" "VUS" "ACMG"
"0000127184" "1" "50" "1" "94512484" "94512484" "subst" "0" "01695" "ABCA4_000680" "g.94512484G>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94046928G>A" "" "VUS" "ACMG"
"0000127185" "1" "70" "1" "94512481" "94512481" "subst" "4.06524E-6" "01695" "ABCA4_000679" "g.94512481G>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94046925G>T" "" "likely pathogenic (recessive)" "ACMG"
"0000127186" "1" "90" "1" "94512478" "94512478" "subst" "3.65871E-5" "01695" "ABCA4_000678" "g.94512478G>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94046922G>T" "" "pathogenic (recessive)" "ACMG"
"0000127187" "1" "90" "1" "94508316" "94510301" "del" "0" "01695" "ABCA4_000041" "g.(94506959_94508316)_(94510301_94512474)del" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "c.2919-?_3328+?del" "" "SUMMARY record" "" "" "0" "" "" "g.(94041403_94042760)_(94044745_94046918)del" "" "pathogenic (recessive)" "ACMG"
"0000127188" "1" "70" "1" "94510302" "94510302" "subst" "0" "01695" "ABCA4_000676" "g.94510302T>C" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94044746T>C" "" "likely pathogenic (recessive)" "ACMG"
"0000127189" "1" "30" "1" "94510306" "94510306" "subst" "0" "01695" "ABCA4_000677" "g.94510306G>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "not statistically tested, classification unknown" "SUMMARY record" "" "" "0" "" "" "g.94044750G>T" "" "likely benign" "ACMG"
"0000127190" "1" "90" "1" "94510301" "94510301" "del" "0" "01695" "ABCA4_000675" "g.94510301del" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94044745del" "" "pathogenic (recessive)" "ACMG"
"0000127191" "1" "50" "1" "94510299" "94510299" "subst" "4.06072E-6" "01695" "ABCA4_000674" "g.94510299A>G" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94044743A>G" "" "VUS" "ACMG"
"0000127192" "1" "50" "1" "94510294" "94510294" "subst" "0" "01695" "ABCA4_000071" "g.94510294G>C" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "not statistically tested, classification unknown" "SUMMARY record" "" "" "0" "" "" "g.94044738G>C" "" "VUS" "ACMG"
"0000127193" "1" "90" "1" "94510292" "94510292" "del" "0" "01695" "ABCA4_000673" "g.94510292del" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94044736del" "" "pathogenic (recessive)" "ACMG"
"0000127194" "1" "70" "1" "94510290" "94510290" "subst" "0" "01695" "ABCA4_000672" "g.94510290T>G" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94044734T>G" "" "likely pathogenic (recessive)" "ACMG"
"0000127195" "1" "90" "1" "94510286" "94510286" "subst" "0" "01695" "ABCA4_000182" "g.94510286C>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant significantly enriched in >3000 likely Caucasian STGD1 patients compared to the non-Finnish ExAC population; located in the ATPase domain, supporting pathogenicity according to ACMG guidelines" "SUMMARY record" "" "" "0" "" "" "g.94044730C>T" "" "pathogenic (recessive)" "ACMG"
"0000127196" "1" "50" "1" "94510277" "94510277" "subst" "8.12123E-6" "01695" "ABCA4_000671" "g.94510277G>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94044721G>A" "" "VUS" "ACMG"
"0000127197" "1" "90" "1" "94510272" "94510272" "subst" "4.06062E-6" "01695" "ABCA4_000070" "g.94510272T>C" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94044716T>C" "" "pathogenic (recessive)" "ACMG"
"0000127198" "1" "90" "1" "94510271" "94510271" "subst" "0" "01695" "ABCA4_000670" "g.94510271G>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "not statistically tested, therefore unknown; variant located in the ATPase domain; multiple other variants reported at same position, supporting the importance of this variant locatio; PhyloP 2.8, CADD >15, Grantham >80, indicating pathogenicity accroding to ACMG guidelines" "SUMMARY record" "" "" "0" "" "" "g.94044715G>A" "" "pathogenic (recessive)" "ACMG"
"0000127199" "1" "90" "1" "94510253" "94510253" "subst" "0.000247694" "01695" "ABCA4_000108" "g.94510253A>G" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant significantly enriched in >3000 likely Caucasian STGD1 patients compared to the non-Finnish ExAC population; located in the ATPase domain, supporting pathogenicity according to ACMG guidelines" "SUMMARY record" "" "" "0" "" "" "g.94044697A>G" "" "pathogenic (recessive)" "ACMG"
"0000127200" "1" "90" "1" "94577001" "94577001" "dup" "0" "01695" "ABCA4_000179" "g.94577001dup" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94111445dup" "" "pathogenic (recessive)" "ACMG"
"0000127201" "1" "90" "1" "94510248" "94510248" "subst" "0.000544123" "01695" "ABCA4_000107" "g.94510248C>G" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant significantly enriched in >3000 likely Caucasian STGD1 patients compared to the non-Finnish ExAC population; located in the ATPase domain, supporting pathogenicity according to ACMG guidelines" "SUMMARY record" "" "" "0" "" "" "g.94044692C>G" "" "pathogenic (recessive)" "ACMG"
"0000127202" "1" "90" "1" "94510248" "94510248" "subst" "0" "01695" "ABCA4_000669" "g.94510248C>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94044692C>A" "" "pathogenic (recessive)" "ACMG"
"0000127203" "1" "70" "1" "94510247" "94510247" "subst" "0" "01695" "ABCA4_000668" "g.94510247C>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94044691C>A" "" "likely pathogenic (recessive)" "ACMG"
"0000127204" "1" "90" "1" "94510235" "94510242" "del" "0" "01695" "ABCA4_000667" "g.94510235_94510242del" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94044679_94044686del" "" "pathogenic (recessive)" "ACMG"
"0000127205" "1" "50" "1" "94576998" "94576998" "subst" "0" "01695" "ABCA4_000222" "g.94576998A>G" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant significantly enriched in >3000 likely Caucasian STGD1 patients compared to the non-Finnish ExAC population" "SUMMARY record" "" "" "0" "" "" "g.94111442A>G" "" "VUS" "ACMG"
"0000127206" "1" "70" "1" "94586600" "94586600" "subst" "0" "01695" "ABCA4_000263" "g.94586600A>G" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94121044A>G" "" "likely pathogenic (recessive)" "ACMG"
"0000127207" "1" "50" "1" "94510215" "94510215" "subst" "1.21818E-5" "01695" "ABCA4_000666" "g.94510215G>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94044659G>A" "" "VUS" "ACMG"
"0000127208" "1" "90" "1" "94510212" "94510212" "subst" "0" "01695" "ABCA4_000665" "g.94510212G>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94044656G>A" "" "pathogenic (recessive)" "ACMG"
"0000127209" "1" "90" "1" "94576993" "94576993" "subst" "2.03513E-5" "01695" "ABCA4_000069" "g.94576993C>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94111437C>T" "" "pathogenic (recessive)" "ACMG"
"0000127210" "1" "30" "1" "94576974" "94576974" "subst" "0.00115785" "01695" "ABCA4_000220" "g.94576974G>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94111418G>A" "" "likely benign" "ACMG"
"0000127211" "1" "70" "1" "94576990" "94576990" "subst" "0" "01695" "ABCA4_000221" "g.94576990T>G" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant significantly enriched in >3000 likely Caucasian STGD1 patients compared to the non-Finnish ExAC population" "SUMMARY record" "" "" "0" "" "" "g.94111434T>G" "" "likely pathogenic (recessive)" "ACMG"
"0000127212" "1" "70" "1" "94510178" "94510178" "subst" "0" "01695" "ABCA4_000664" "g.94510178A>C" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94044622A>C" "" "likely pathogenic (recessive)" "ACMG"
"0000127213" "1" "50" "1" "94510176" "94510176" "subst" "0" "01695" "ABCA4_000106" "g.94510176A>G" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "not statistically tested, classification unknown" "SUMMARY record" "" "" "0" "" "" "g.94044620A>G" "" "VUS" "ACMG"
"0000127214" "1" "70" "1" "94510168" "94510168" "subst" "0" "01695" "ABCA4_000662" "g.94510168C>G" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94044612C>G" "" "likely pathogenic (recessive)" "ACMG"
"0000127215" "1" "70" "1" "94510164" "94510164" "subst" "1.62441E-5" "01695" "ABCA4_000144" "g.94510164C>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant significantly enriched in >3000 likely Caucasian STGD1 patients compared to the non-Finnish ExAC population; located in the ATPase domain, supporting pathogenicity according to ACMG guidelines" "SUMMARY record" "" "" "0" "" "" "g.94044608C>T" "" "likely pathogenic (recessive)" "ACMG"
"0000127216" "1" "90" "1" "94509027" "94509027" "subst" "4.06478E-6" "01695" "ABCA4_000661" "g.94509027T>C" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94043471T>C" "" "pathogenic (recessive)" "ACMG"
"0000127217" "1" "90" "1" "94509026" "94509026" "subst" "4.06497E-5" "01695" "ABCA4_000660" "g.94509026G>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant significantly enriched in >3000 likely Caucasian STGD1 patients compared to the non-Finnish ExAC population; located in the ATPase domain, supporting pathogenicity according to ACMG guidelines" "SUMMARY record" "" "" "0" "" "" "g.94043470G>A" "" "pathogenic (recessive)" "ACMG"
"0000127218" "1" "70" "1" "94509018" "94509018" "subst" "8.12869E-6" "01695" "ABCA4_000659" "g.94509018C>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94043462C>T" "" "likely pathogenic (recessive)" "ACMG"
"0000127219" "1" "70" "1" "94509017" "94509017" "subst" "0" "01695" "ABCA4_000658" "g.94509017T>C" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94043461T>C" "" "likely pathogenic (recessive)" "ACMG"
"0000127220" "1" "70" "1" "94509011" "94509011" "subst" "0" "01695" "ABCA4_000657" "g.94509011A>G" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "not statistically tested, classification unknown" "SUMMARY record" "" "" "0" "" "" "g.94043455A>G" "" "likely pathogenic (recessive)" "ACMG"
"0000127221" "1" "90" "1" "94508997" "94508997" "subst" "0" "01695" "ABCA4_000112" "g.94508997G>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94043441G>A" "" "pathogenic (recessive)" "ACMG"
"0000127222" "1" "50" "1" "94508991" "94508991" "subst" "0" "01695" "ABCA4_000656" "g.94508991T>C" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94043435T>C" "" "VUS" "ACMG"
"0000127223" "1" "70" "1" "94508976" "94508976" "subst" "1.21906E-5" "01695" "ABCA4_000655" "g.94508976C>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94043420C>T" "" "likely pathogenic (recessive)" "ACMG"
"0000127224" "1" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant significantly enriched in >3000 likely Caucasian STGD1 patients compared to the non-Finnish ExAC population; located in the ATPase domain, supporting pathogenicity according to ACMG guidelines" "SUMMARY record" "" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic (!)" "ACMG"
"0000127225" "1" "50" "1" "94508934" "94508934" "subst" "0" "01695" "ABCA4_000654" "g.94508934C>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94043378C>T" "" "VUS" "ACMG"
"0000127226" "1" "50" "1" "94508933" "94508933" "subst" "2.43853E-5" "01695" "ABCA4_000134" "g.94508933C>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant significantly enriched in >3000 likely Caucasian STGD1 patients compared to the non-Finnish ExAC population; located in the ATPase domain, supporting pathogenicity according to ACMG guidelines" "SUMMARY record" "" "" "0" "" "" "g.94043377C>T" "" "VUS" "ACMG"
"0000127227" "1" "50" "1" "94508919" "94508919" "subst" "7.31707E-5" "01695" "ABCA4_000653" "g.94508919G>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94043363G>A" "" "VUS" "ACMG"
"0000127228" "1" "50" "1" "94508895" "94508895" "subst" "0" "01695" "ABCA4_000652" "g.94508895A>G" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94043339A>G" "" "VUS" "ACMG"
"0000127229" "1" "90" "1" "94574257" "94574257" "subst" "0" "01695" "ABCA4_000218" "g.94574257A>C" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94108701A>C" "" "pathogenic (recessive)" "ACMG"
"0000127230" "1" "90" "1" "94508455" "94508455" "subst" "8.12434E-6" "01695" "ABCA4_000649" "g.94508455C>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94042899C>A" "" "pathogenic (recessive)" "ACMG"
"0000127231" "1" "90" "1" "94508456" "94508456" "subst" "4.0621E-6" "01695" "ABCA4_000650" "g.94508456T>C" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94042900T>C" "" "pathogenic (recessive)" "ACMG"
"0000127232" "1" "55" "1" "94508456" "94508456" "subst" "0" "01695" "ABCA4_000651" "g.94508456T>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}" "" "" "not statistically tested, classification unknown" "SUMMARY record" "" "" "0" "" "" "g.94042900T>A" "" "VUS" "ACMG"
"0000127233" "1" "90" "1" "94508451" "94508451" "subst" "0" "01695" "ABCA4_000648" "g.94508451C>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "not statistically tested, classification unknown" "SUMMARY record" "" "" "0" "" "" "g.94042895C>A" "" "pathogenic (recessive)" "ACMG"
"0000127234" "1" "90" "1" "94574256" "94574256" "subst" "2.8425E-5" "01695" "ABCA4_000040" "g.94574256G>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94108700G>A" "" "pathogenic (recessive)" "ACMG"
"0000127235" "1" "50" "1" "94508441" "94508441" "subst" "0" "01695" "ABCA4_001005" "g.94508441T>R" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "c.3204A>T/C" "ACMG PM2_sup; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94042885T>R" "" "VUS" "ACMG"
"0000127236" "1" "90" "1" "94508440" "94508441" "dup" "0" "01695" "ABCA4_000646" "g.94508440_94508441dup" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94042884_94042885dup" "" "pathogenic (recessive)" "ACMG"
"0000127237" "1" "50" "1" "94508440" "94508440" "subst" "0" "01695" "ABCA4_000647" "g.94508440T>C" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94042884T>C" "" "VUS" "ACMG"
"0000127238" "1" "90" "1" "94508436" "94508437" "ins" "0" "01695" "ABCA4_000645" "g.94508436_94508437insAC" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94042880_94042881insAC" "" "pathogenic (recessive)" "ACMG"
"0000127239" "1" "90" "1" "94508435" "94508436" "dup" "0" "01695" "ABCA4_000998" "g.94508435_94508436dup" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94042879_94042880dup" "" "pathogenic (recessive)" "ACMG"
"0000127240" "1" "90" "1" "94508433" "94508433" "subst" "8.12209E-6" "01695" "ABCA4_000151" "g.94508433G>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant significantly enriched in >3000 likely Caucasian STGD1 patients compared to the non-Finnish ExAC population; located in the ATPase domain, supporting pathogenicity according to ACMG guidelines" "SUMMARY record" "" "" "0" "" "" "g.94042877G>A" "" "pathogenic (recessive)" "ACMG"
"0000127241" "1" "70" "1" "94508412" "94508412" "subst" "0" "01695" "ABCA4_000644" "g.94508412C>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94042856C>T" "" "likely pathogenic (recessive)" "ACMG"
"0000127242" "1" "50" "1" "94574252" "94574252" "subst" "0" "01695" "ABCA4_000217" "g.94574252T>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94108696T>A" "" "VUS" "ACMG"
"0000127243" "1" "90" "1" "94508386" "94508386" "subst" "1.62443E-5" "01695" "ABCA4_000642" "g.94508386C>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant significantly enriched in >3000 likely Caucasian STGD1 patients compared to the non-Finnish ExAC population; located in the ATPase domain, supporting pathogenicity according to ACMG guidelines" "SUMMARY record" "" "" "0" "" "" "g.94042830C>T" "" "pathogenic (recessive)" "ACMG"
"0000127244" "1" "90" "1" "94508386" "94508386" "subst" "0" "01695" "ABCA4_000643" "g.94508386C>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94042830C>A" "" "pathogenic (recessive)" "ACMG"
"0000127245" "1" "90" "1" "94508384" "94508384" "subst" "0" "01695" "ABCA4_000641" "g.94508384T>G" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant significantly enriched in >3000 likely Caucasian STGD1 patients compared to the non-Finnish ExAC population; located in the ATPase domain, supporting pathogenicity according to ACMG guidelines" "SUMMARY record" "" "" "0" "" "" "g.94042828T>G" "" "pathogenic (recessive)" "ACMG"
"0000127246" "1" "70" "1" "94508379" "94508379" "subst" "0" "01695" "ABCA4_000640" "g.94508379G>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94042823G>A" "" "likely pathogenic (recessive)" "ACMG"
"0000127247" "1" "70" "1" "94508373" "94508373" "subst" "0" "01695" "ABCA4_000639" "g.94508373C>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94042817C>T" "" "likely pathogenic (recessive)" "ACMG"
"0000127248" "1" "90" "1" "94508366" "94508366" "subst" "0" "01695" "ABCA4_000638" "g.94508366G>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94042810G>T" "" "pathogenic (recessive)" "ACMG"
"0000127249" "1" "90" "1" "94574251" "94574251" "dup" "0" "01695" "ABCA4_000216" "g.94574251dup" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94108695dup" "" "pathogenic (recessive)" "ACMG"
"0000127250" "1" "50" "1" "94508364" "94508364" "subst" "0" "01695" "ABCA4_000637" "g.94508364G>C" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94042808G>C" "" "VUS" "ACMG"
"0000127251" "1" "90" "1" "94508358" "94508358" "subst" "4.06167E-6" "01695" "ABCA4_000636" "g.94508358G>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94042802G>A" "" "pathogenic (recessive)" "ACMG"
"0000127252" "1" "90" "1" "94508356" "94508356" "subst" "0" "01695" "ABCA4_000635" "g.94508356T>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94042800T>A" "" "pathogenic (recessive)" "ACMG"
"0000127253" "1" "50" "1" "94508354" "94508354" "subst" "0" "01695" "ABCA4_000634" "g.94508354T>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94042798T>A" "" "VUS" "ACMG"
"0000127254" "1" "90" "1" "94508353" "94508353" "subst" "2.8431E-5" "01695" "ABCA4_000141" "g.94508353G>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant significantly enriched in >3000 likely Caucasian STGD1 patients compared to the non-Finnish ExAC population; located in the ATPase domain, supporting pathogenicity according to ACMG guidelines" "SUMMARY record" "" "" "0" "" "" "g.94042797G>A" "" "pathogenic (recessive)" "ACMG"
"0000127255" "1" "70" "1" "94508350" "94508350" "subst" "0" "01695" "ABCA4_000633" "g.94508350A>G" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94042794A>G" "" "likely pathogenic (recessive)" "ACMG"
"0000127256" "1" "70" "1" "94508349" "94508349" "subst" "0" "01695" "ABCA4_001006" "g.94508349G>Y" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "c.3296C>G/A" "ACMG PVS1, PM2_sup; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94042793G>Y" "" "likely pathogenic (recessive)" "ACMG"
"0000127257" "1" "70" "1" "94508346" "94508346" "subst" "0" "01695" "ABCA4_000632" "g.94508346A>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94042790A>T" "" "likely pathogenic (recessive)" "ACMG"
"0000127258" "1" "90" "1" "94586570" "94586570" "subst" "4.06101E-6" "01695" "ABCA4_000154" "g.94586570A>G" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94121014A>G" "" "pathogenic (recessive)" "ACMG"
"0000127259" "1" "90" "1" "94508342" "94508342" "subst" "0" "01695" "ABCA4_000631" "g.94508342C>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94042786C>T" "" "pathogenic (recessive)" "ACMG"
"0000127260" "1" "70" "1" "94508340" "94508340" "subst" "4.06171E-6" "01695" "ABCA4_000630" "g.94508340T>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94042784T>A" "" "likely pathogenic (recessive)" "ACMG"
"0000127261" "1" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant significantly enriched in >3000 likely Caucasian STGD1 patients compared to the non-Finnish ExAC population; located in the ATPase domain, supporting pathogenicity according to ACMG guidelines" "SUMMARY record" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" "ACMG"
"0000127262" "1" "90" "1" "94508322" "94508322" "subst" "1.62513E-5" "01695" "ABCA4_000128" "g.94508322C>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94042766C>T" "" "pathogenic (recessive)" "ACMG"
"0000127263" "1" "70" "1" "94506960" "94506960" "subst" "0" "01695" "ABCA4_000629" "g.94506960T>C" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94041404T>C" "" "likely pathogenic (recessive)" "ACMG"
"0000127264" "1" "70" "1" "94506952" "94506952" "subst" "0" "01695" "ABCA4_000628" "g.94506952G>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94041396G>T" "" "likely pathogenic (recessive)" "ACMG"
"0000127265" "1" "50" "1" "94506937" "94506937" "subst" "0" "01695" "ABCA4_000627" "g.94506937G>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94041381G>A" "" "VUS" "ACMG"
"0000127266" "1" "70" "1" "94506935" "94506935" "subst" "4.06098E-6" "01695" "ABCA4_000626" "g.94506935G>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "not statistically tested, classification unknown" "SUMMARY record" "" "" "0" "" "" "g.94041379G>A" "" "likely pathogenic (recessive)" "ACMG"
"0000127267" "1" "90" "1" "94506923" "94506923" "subst" "2.43657E-5" "01695" "ABCA4_000012" "g.94506923C>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94041367C>T" "" "pathogenic (recessive)" "ACMG"
"0000127268" "1" "50" "1" "94506917" "94506917" "subst" "0" "01695" "ABCA4_000625" "g.94506917C>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94041361C>A" "" "VUS" "ACMG"
"0000127269" "1" "70" "1" "94506910" "94506910" "subst" "4.06098E-6" "01695" "ABCA4_000105" "g.94506910A>G" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "not statistically tested, classification unknown" "SUMMARY record" "" "" "0" "" "" "g.94041354A>G" "" "likely pathogenic (recessive)" "ACMG"
"0000127270" "1" "70" "1" "94506907" "94506907" "subst" "0" "01695" "ABCA4_000624" "g.94506907C>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94041351C>T" "" "likely pathogenic (recessive)" "ACMG"
"0000127271" "1" "90" "1" "94506902" "94506902" "subst" "1.21834E-5" "01695" "ABCA4_000623" "g.94506902G>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94041346G>A" "" "pathogenic (recessive)" "ACMG"
"0000127272" "1" "90" "1" "94506901" "94506901" "subst" "4.06138E-6" "01695" "ABCA4_000622" "g.94506901C>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94041345C>T" "" "pathogenic (recessive)" "ACMG"
"0000127273" "1" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant significantly enriched in >3000 likely Caucasian STGD1 patients compared to the non-Finnish ExAC population; located in the ATPase domain, supporting pathogenicity according to ACMG guidelines" "SUMMARY record" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" "ACMG"
"0000127274" "1" "90" "1" "94506894" "94506895" "delins" "0" "01695" "ABCA4_000621" "g.94506894_94506895delinsC" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94041338_94041339delinsC" "" "pathogenic (recessive)" "ACMG"
"0000127275" "1" "90" "1" "94506895" "94506895" "del" "0" "01695" "ABCA4_000620" "g.94506895del" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94041339del" "" "pathogenic (recessive)" "ACMG"
"0000127276" "1" "70" "1" "94506889" "94506889" "subst" "4.06091E-6" "01695" "ABCA4_000619" "g.94506889A>G" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94041333A>G" "" "likely pathogenic (recessive)" "ACMG"
"0000127277" "1" "70" "1" "94506874" "94506874" "subst" "0" "01695" "ABCA4_000104" "g.94506874A>G" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "not statistically tested, classification unknown" "SUMMARY record" "" "" "0" "" "" "g.94041318A>G" "" "likely pathogenic (recessive)" "ACMG"
"0000127278" "1" "50" "1" "94506853" "94506853" "subst" "0" "01695" "ABCA4_000618" "g.94506853A>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94041297A>T" "" "VUS" "ACMG"
"0000127279" "1" "50" "1" "94506844" "94506844" "subst" "0" "01695" "ABCA4_000617" "g.94506844T>G" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94041288T>G" "" "VUS" "ACMG"
"0000127280" "1" "50" "1" "94506838" "94506840" "del" "0" "01695" "ABCA4_000615" "g.94506838_94506840del" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "not statistically tested, classification unknown" "SUMMARY record" "" "" "0" "" "" "g.94041282_94041284del" "" "VUS" "ACMG"
"0000127281" "1" "50" "1" "94506838" "94506838" "subst" "1.21827E-5" "01695" "ABCA4_000616" "g.94506838C>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94041282C>T" "" "VUS" "ACMG"
"0000127282" "1" "50" "1" "94506806" "94506806" "subst" "0" "01695" "ABCA4_000614" "g.94506806G>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94041250G>T" "" "VUS" "ACMG"
"0000127283" "1" "50" "1" "94506761" "94506761" "del" "0" "01695" "ABCA4_000613" "g.94506761del" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94041205del" "" "VUS" "ACMG"
"0000127284" "1" "70" "1" "94505684" "94505684" "subst" "1.73969E-5" "01695" "ABCA4_000102" "g.94505684C>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94040128C>T" "" "likely pathogenic (recessive)" "ACMG"
"0000127285" "1" "90" "1" "94505685" "94505685" "subst" "0" "01695" "ABCA4_000611" "g.94505685T>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant not significantly enriched in >3000 likely Caucasian STGD1-patients compared to non-Finnish ExAC population; it affects a canonical splice site and therefore classified as pathogenic according to ACMG guidelines" "SUMMARY record" "" "" "0" "" "" "g.94040129T>A" "" "pathogenic (recessive)" "ACMG"
"0000127286" "1" "90" "1" "94505674" "94505677" "dup" "0" "01695" "ABCA4_000609" "g.94505674_94505677dup" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94040118_94040121dup" "" "pathogenic (recessive)" "ACMG"
"0000127287" "1" "90" "1" "94505675" "94505675" "subst" "0" "01695" "ABCA4_000610" "g.94505675G>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94040119G>T" "" "pathogenic (recessive)" "ACMG"
"0000127288" "1" "90" "1" "94505652" "94505667" "del" "0" "01695" "ABCA4_000607" "g.94505652_94505667del" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94040096_94040111del" "" "pathogenic (recessive)" "ACMG"
"0000127289" "1" "90" "1" "94505663" "94505663" "del" "0" "01695" "ABCA4_000608" "g.94505663del" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94040107del" "" "pathogenic (recessive)" "ACMG"
"0000127290" "1" "90" "1" "94574223" "94574224" "del" "0" "01695" "ABCA4_000215" "g.94574223_94574224del" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94108667_94108668del" "" "pathogenic (recessive)" "ACMG"
"0000127291" "1" "30" "1" "94505604" "94505604" "subst" "0.00645586" "01695" "ABCA4_000092" "g.94505604A>C" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94040048A>C" "" "likely benign" "ACMG"
"0000127292" "1" "50" "1" "94505596" "94505596" "subst" "0" "01695" "ABCA4_000606" "g.94505596T>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94040040T>A" "" "VUS" "ACMG"
"0000127293" "1" "90" "1" "94505599" "94505599" "subst" "0" "01695" "ABCA4_000152" "g.94505599C>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94040043C>T" "" "pathogenic (recessive)" "ACMG"
"0000127294" "1" "50" "1" "94502906" "94502906" "subst" "0.000314086" "01695" "ABCA4_000605" "g.94502906C>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant frequency lower in a group of >3000 likely Caucasian STGD1 patients than in the ExAC non-Finnish population" "SUMMARY record" "" "" "0" "" "" "g.94037350C>T" "" "VUS" "ACMG"
"0000127295" "1" "30" "1" "94502888" "94502888" "subst" "0.00310941" "01695" "ABCA4_000603" "g.94502888A>G" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94037332A>G" "" "likely benign" "ACMG"
"0000127296" "1" "70" "1" "94502859" "94502859" "subst" "8.13206E-6" "01695" "ABCA4_000602" "g.94502859C>G" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94037303C>G" "" "likely pathogenic (recessive)" "ACMG"
"0000127297" "1" "50" "1" "94502778" "94502778" "subst" "0" "01695" "ABCA4_000601" "g.94502778G>C" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant significantly enriched in >3000 likely Caucasian STGD1 patients compared to the non-Finnish ExAC population" "SUMMARY record" "" "" "0" "" "" "g.94037222G>C" "" "VUS" "ACMG"
"0000127298" "1" "50" "1" "94502765" "94502765" "subst" "0" "01695" "ABCA4_000600" "g.94502765A>G" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94037209A>G" "" "VUS" "ACMG"
"0000127299" "1" "90" "1" "94502760" "94502760" "subst" "4.0626E-6" "01695" "ABCA4_000599" "g.94502760C>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94037204C>A" "" "pathogenic (recessive)" "ACMG"
"0000127300" "1" "50" "1" "94502756" "94502756" "subst" "0.000422575" "01695" "ABCA4_000032" "g.94502756G>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94037200G>A" "" "VUS" "ACMG"
"0000127301" "1" "90" "1" "94502748" "94502749" "dup" "0" "01695" "ABCA4_000598" "g.94502748_94502749dup" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94037192_94037193dup" "" "pathogenic (recessive)" "ACMG"
"0000127302" "1" "50" "1" "94586561" "94586569" "del" "0" "01695" "ABCA4_000258" "g.94586561_94586569del" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94121005_94121013del" "" "VUS" "ACMG"
"0000127303" "1" "90" "1" "94502706" "94502706" "subst" "0" "01695" "ABCA4_000597" "g.94502706C>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94037150C>A" "" "pathogenic (recessive)" "ACMG"
"0000127304" "1" "90" "1" "94502702" "94502702" "subst" "0" "01695" "ABCA4_000595" "g.94502702T>C" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant significantly enriched in >3000 likely Caucasian STGD1 patients compared to the non-Finnish ExAC population" "SUMMARY record" "" "" "0" "" "" "g.94037146T>C" "" "pathogenic (recessive)" "ACMG"
"0000127305" "1" "90" "1" "94502702" "94502702" "del" "0" "01695" "ABCA4_000596" "g.94502702del" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "not statistically tested, classification unknown" "SUMMARY record" "" "" "0" "" "" "g.94037146del" "" "pathogenic (recessive)" "ACMG"
"0000127306" "1" "90" "1" "94502701" "94502701" "subst" "0" "01695" "ABCA4_000594" "g.94502701C>G" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant significantly enriched in >3000 likely Caucasian STGD1 patients compared to the non-Finnish ExAC population" "SUMMARY record" "" "" "0" "" "" "g.94037145C>G" "" "pathogenic (recessive)" "ACMG"
"0000127307" "1" "70" "1" "94502346" "94502346" "subst" "0" "01695" "ABCA4_000593" "g.94502346T>C" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94036790T>C" "" "likely pathogenic (recessive)" "ACMG"
"0000127308" "1" "90" "1" "94502343" "94502343" "dup" "0" "01695" "ABCA4_000592" "g.94502343dup" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94036787dup" "" "pathogenic (recessive)" "ACMG"
"0000127309" "1" "50" "1" "94502318" "94502323" "del" "0" "01695" "ABCA4_000591" "g.94502318_94502323del" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94036762_94036767del" "" "VUS" "ACMG"
"0000127310" "1" "70" "1" "94502312" "94502312" "del" "0" "01695" "ABCA4_000590" "g.94502312del" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94036756del" "" "likely pathogenic (recessive)" "ACMG"
"0000127311" "1" "90" "1" "94502295" "94502295" "subst" "0" "01695" "ABCA4_000589" "g.94502295C>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94036739C>T" "" "pathogenic (recessive)" "ACMG"
"0000127312" "1" "50" "1" "94502293" "94502293" "subst" "0" "01695" "ABCA4_000588" "g.94502293T>C" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant significantly enriched in >3000 likely Caucasian STGD1 patients compared to the non-Finnish ExAC population" "SUMMARY record" "" "" "0" "" "" "g.94036737T>C" "" "VUS" "ACMG"
"0000127313" "1" "90" "1" "94497591" "94497591" "subst" "0" "01695" "ABCA4_000587" "g.94497591G>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "not statistically tested, classification unknown" "SUMMARY record" "" "" "0" "" "" "g.94032035G>A" "" "pathogenic (recessive)" "ACMG"
"0000127314" "1" "90" "1" "94497588" "94497588" "subst" "4.153E-6" "01695" "ABCA4_000049" "g.94497588G>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94032032G>A" "" "pathogenic (recessive)" "ACMG"
"0000127315" "1" "90" "1" "94497564" "94497564" "subst" "1.64383E-5" "01695" "ABCA4_000091" "g.94497564G>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94032008G>A" "" "pathogenic (recessive)" "ACMG"
"0000127316" "1" "30" "1" "94497563" "94497563" "subst" "0.00492504" "01695" "ABCA4_000090" "g.94497563C>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94032007C>T" "" "likely benign" "ACMG"
"0000127317" "1" "90" "1" "94497551" "94497551" "subst" "0" "01695" "ABCA4_000586" "g.94497551A>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94031995A>T" "" "pathogenic (recessive)" "ACMG"
"0000127318" "1" "90" "1" "94497519" "94497519" "subst" "0" "01695" "ABCA4_000585" "g.94497519G>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94031963G>A" "" "pathogenic (recessive)" "ACMG"
"0000127319" "1" "90" "1" "94497495" "94497495" "del" "0" "01695" "ABCA4_000584" "g.94497495del" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94031939del" "" "pathogenic (recessive)" "ACMG"
"0000127320" "1" "90" "1" "94497474" "94497474" "subst" "0" "01695" "ABCA4_000583" "g.94497474C>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94031918C>A" "" "pathogenic (recessive)" "ACMG"
"0000127321" "1" "90" "1" "94497468" "94497468" "subst" "0" "01695" "ABCA4_000582" "g.94497468G>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94031912G>A" "" "pathogenic (recessive)" "ACMG"
"0000127322" "1" "70" "1" "94586599" "94586599" "subst" "0" "01695" "ABCA4_000261" "g.94586599C>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant significantly enriched in >3000 likely Caucasian STGD1 patients compared to the non-Finnish ExAC population" "SUMMARY record" "" "" "0" "" "" "g.94121043C>T" "" "likely pathogenic (recessive)" "ACMG"
"0000127323" "1" "90" "1" "94497461" "94497462" "del" "0" "01695" "ABCA4_000581" "g.94497461_94497462del" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94031905_94031906del" "" "pathogenic (recessive)" "ACMG"
"0000127324" "1" "90" "1" "94574175" "94574175" "subst" "0" "01695" "ABCA4_000214" "g.94574175G>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94108619G>A" "" "pathogenic (recessive)" "ACMG"
"0000127325" "1" "77" "1" "94497441" "94497441" "ins" "0" "01695" "ABCA4_001007" "g.94497441_94497441insN[24]" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "c.4021ins(24)" "ACMG PM2_sup; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94031885_94031886insN[24]" "" "VUS" "ACMG"
"0000127326" "1" "90" "1" "94497427" "94497428" "del" "0" "01695" "ABCA4_000580" "g.94497427_94497428del" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94031871_94031872del" "" "pathogenic (recessive)" "ACMG"
"0000127327" "1" "90" "1" "94497427" "94497428" "dup" "0" "01695" "ABCA4_000579" "g.94497427_94497428dup" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94031871_94031872dup" "" "pathogenic (recessive)" "ACMG"
"0000127328" "1" "90" "1" "94497393" "94497393" "subst" "2.04188E-5" "01695" "ABCA4_000578" "g.94497393C>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94031837C>T" "" "pathogenic (recessive)" "ACMG"
"0000127329" "1" "70" "1" "94497392" "94497392" "subst" "0" "01695" "ABCA4_000576" "g.94497392G>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94031836G>T" "" "likely pathogenic (recessive)" "ACMG"
"0000127330" "1" "90" "1" "94497392" "94497392" "subst" "0" "01695" "ABCA4_000577" "g.94497392G>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94031836G>A" "" "pathogenic (recessive)" "ACMG"
"0000127331" "1" "90" "1" "94497360" "94497360" "subst" "4.0949E-6" "01695" "ABCA4_000575" "g.94497360G>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant significantly enriched in >3000 likely Caucasian STGD1 patients compared to the non-Finnish ExAC population" "SUMMARY record" "" "" "0" "" "" "g.94031804G>A" "" "pathogenic (recessive)" "ACMG"
"0000127332" "1" "70" "1" "94497334" "94497334" "subst" "0" "01695" "ABCA4_000574" "g.94497334C>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant significantly enriched in >3000 likely Caucasian STGD1 patients compared to the non-Finnish ExAC population" "SUMMARY record" "" "" "0" "" "" "g.94031778C>T" "" "likely pathogenic (recessive)" "ACMG"
"0000127333" "1" "90" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94031110G>A" "" "pathogenic (recessive)" "ACMG"
"0000127334" "1" "90" "1" "94496642" "94496642" "subst" "4.06398E-6" "01695" "ABCA4_000168" "g.94496642A>G" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94031086A>G" "" "pathogenic (recessive)" "ACMG"
"0000127335" "1" "70" "1" "94496636" "94496636" "subst" "4.06296E-6" "01695" "ABCA4_000159" "g.94496636A>G" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94031080A>G" "" "likely pathogenic (recessive)" "ACMG"
"0000127336" "1" "50" "1" "94496628" "94496628" "subst" "0" "01695" "ABCA4_000573" "g.94496628C>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant significantly enriched in >3000 likely Caucasian STGD1 patients compared to the non-Finnish ExAC population" "SUMMARY record" "" "" "0" "" "" "g.94031072C>T" "" "VUS" "ACMG"
"0000127337" "1" "90" "1" "94496610" "94496610" "subst" "2.03128E-5" "01695" "ABCA4_000571" "g.94496610C>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant significantly enriched in >3000 likely Caucasian STGD1 patients compared to the non-Finnish ExAC population" "SUMMARY record" "" "" "0" "" "" "g.94031054C>T" "" "pathogenic (recessive)" "ACMG"
"0000127338" "1" "90" "1" "94496610" "94496610" "subst" "1.21877E-5" "01695" "ABCA4_000572" "g.94496610C>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "not statistically tested, classification unknown" "SUMMARY record" "" "" "0" "" "" "g.94031054C>A" "" "pathogenic (recessive)" "ACMG"
"0000127339" "1" "90" "1" "94496605" "94496605" "subst" "0" "01695" "ABCA4_000570" "g.94496605G>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94031049G>T" "" "pathogenic (recessive)" "ACMG"
"0000127340" "1" "70" "1" "94496589" "94496589" "subst" "0" "01695" "ABCA4_000568" "g.94496589G>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94031033G>A" "" "likely pathogenic (recessive)" "ACMG"
"0000127341" "1" "70" "1" "94496588" "94496588" "subst" "0" "01695" "ABCA4_000567" "g.94496588T>C" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94031032T>C" "" "likely pathogenic (recessive)" "ACMG"
"0000127342" "1" "90" "1" "94496583" "94496583" "subst" "2.03092E-5" "01695" "ABCA4_000190" "g.94496583A>G" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94031027A>G" "" "pathogenic (recessive)" "ACMG"
"0000127343" "1" "70" "1" "94496582" "94496582" "subst" "0" "01695" "ABCA4_000089" "g.94496582C>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94031026C>A" "" "likely pathogenic (recessive)" "ACMG"
"0000127344" "1" "90" "1" "94496581" "94496581" "subst" "0" "01695" "ABCA4_000565" "g.94496581C>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94031025C>T" "" "pathogenic (recessive)" "ACMG"
"0000127345" "1" "70" "1" "94496580" "94496580" "subst" "0" "01695" "ABCA4_000564" "g.94496580T>C" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant significantly enriched in >3000 likely Caucasian STGD1 patients compared to the non-Finnish ExAC population" "SUMMARY record" "" "" "0" "" "" "g.94031024T>C" "" "likely pathogenic (recessive)" "ACMG"
"0000127346" "1" "90" "1" "94496573" "94496574" "ins" "0" "01695" "ABCA4_001000" "g.94496573_94496574insATAC" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94031017_94031018insATAC" "" "pathogenic (recessive)" "ACMG"
"0000127347" "1" "90" "1" "94496571" "94496571" "subst" "4.06174E-6" "01695" "ABCA4_000111" "g.94496571G>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94031015G>A" "" "pathogenic (recessive)" "ACMG"
"0000127348" "1" "50" "1" "94496562" "94496562" "subst" "0" "01695" "ABCA4_000563" "g.94496562T>G" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant significantly enriched in >3000 likely Caucasian STGD1 patients compared to the non-Finnish ExAC population" "SUMMARY record" "" "" "0" "" "" "g.94031006T>G" "" "VUS" "ACMG"
"0000127349" "1" "50" "1" "94496557" "94496557" "subst" "8.12381E-6" "01695" "ABCA4_000562" "g.94496557G>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant significantly enriched in >3000 likely Caucasian STGD1 patients compared to the non-Finnish ExAC population" "SUMMARY record" "" "" "0" "" "" "g.94031001G>T" "" "VUS" "ACMG"
"0000127350" "1" "70" "1" "94496558" "94496560" "del" "0" "01695" "ABCA4_000561" "g.94496558_94496560del" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94031002_94031004del" "" "likely pathogenic (recessive)" "ACMG"
"0000127351" "1" "90" "1" "94496548" "94496548" "subst" "2.43787E-5" "01695" "ABCA4_000088" "g.94496548G>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94030992G>A" "" "pathogenic (recessive)" "ACMG"
"0000127352" "1" "90" "1" "94496547" "94496547" "subst" "1.21904E-5" "01695" "ABCA4_000560" "g.94496547C>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant significantly enriched in >3000 likely Caucasian STGD1 patients compared to the non-Finnish ExAC population" "SUMMARY record" "" "" "0" "" "" "g.94030991C>T" "" "pathogenic (recessive)" "ACMG"
"0000127353" "1" "90" "1" "94496547" "94496547" "subst" "4.06345E-6" "01695" "ABCA4_000559" "g.94496547C>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94030991C>A" "" "pathogenic (recessive)" "ACMG"
"0000127354" "1" "50" "1" "94496097" "94496119" "del" "0" "01695" "ABCA4_000557" "g.94496097_94496119del" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "not statistically tested, classification unknown" "SUMMARY record" "" "" "0" "" "" "g.94030541_94030563del" "" "VUS" "ACMG"
"0000127355" "1" "70" "1" "94496084" "94496084" "subst" "0" "01695" "ABCA4_000011" "g.94496084T>C" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94030528T>C" "" "likely pathogenic (recessive)" "ACMG"
"0000127356" "1" "50" "1" "94496080" "94496080" "subst" "0.000982813" "01695" "ABCA4_000558" "g.94496080A>G" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94030524A>G" "" "VUS" "ACMG"
"0000127357" "1" "30" "1" "94496053" "94496053" "subst" "0.00437371" "01695" "ABCA4_000556" "g.94496053G>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant frequency lower in a group of >3000 likely Caucasian STGD1 patients than in the ExAC non-Finnish population" "SUMMARY record" "" "" "0" "" "" "g.94030497G>A" "" "likely benign" "ACMG"
"0000127358" "1" "50" "1" "94496050" "94496050" "subst" "0" "01695" "ABCA4_000555" "g.94496050A>G" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant significantly enriched in >3000 likely Caucasian STGD1 patients compared to the non-Finnish ExAC population" "SUMMARY record" "" "" "0" "" "" "g.94030494A>G" "" "VUS" "ACMG"
"0000127359" "1" "70" "1" "94496047" "94496047" "subst" "0" "01695" "ABCA4_000554" "g.94496047A>G" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94030491A>G" "" "likely pathogenic (recessive)" "ACMG"
"0000127360" "1" "70" "1" "94574147" "94574147" "subst" "8.12236E-6" "01695" "ABCA4_000213" "g.94574147G>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94108591G>A" "" "likely pathogenic (recessive)" "ACMG"
"0000127361" "1" "90" "1" "94496047" "94496047" "del" "0" "01695" "ABCA4_000553" "g.94496047del" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94030491del" "" "pathogenic (recessive)" "ACMG"
"0000127362" "1" "50" "1" "94496039" "94496039" "subst" "0.00157963" "01695" "ABCA4_000552" "g.94496039C>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant frequency lower in a group of >3000 likely Caucasian STGD1 patients than in the ExAC non-Finnish population" "SUMMARY record" "" "" "0" "" "" "g.94030483C>T" "" "VUS" "ACMG"
"0000127363" "1" "90" "1" "94586557" "94586561" "del" "0" "01695" "ABCA4_000257" "g.94586557_94586561del" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94121001_94121005del" "" "pathogenic (recessive)" "ACMG"
"0000127364" "1" "90" "1" "94496020" "94496020" "subst" "8.12143E-6" "01695" "ABCA4_000014" "g.94496020C>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94030464C>T" "" "pathogenic (recessive)" "ACMG"
"0000127365" "1" "70" "1" "94496018" "94496018" "subst" "0" "01695" "ABCA4_001002" "g.94496018A>C" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94030462A>C" "" "likely pathogenic (recessive)" "ACMG"
"0000127366" "1" "90" "1" "94496017" "94496017" "subst" "4.06075E-6" "01695" "ABCA4_000130" "g.94496017A>G" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94030461A>G" "" "pathogenic (recessive)" "ACMG"
"0000127367" "1" "90" "1" "94496018" "94496018" "del" "0" "01695" "ABCA4_000551" "g.94496018del" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94030462del" "" "pathogenic (recessive)" "ACMG"
"0000127368" "1" "70" "1" "94496014" "94496014" "subst" "0" "01695" "ABCA4_000550" "g.94496014C>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "not statistically tested, classification unknown" "SUMMARY record" "" "" "0" "" "" "g.94030458C>T" "" "likely pathogenic (recessive)" "ACMG"
"0000127369" "1" "70" "1" "94496010" "94496010" "subst" "1.62434E-5" "01695" "ABCA4_000549" "g.94496010G>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant significantly enriched in >3000 likely Caucasian STGD1 patients compared to the non-Finnish ExAC population" "SUMMARY record" "" "" "0" "" "" "g.94030454G>T" "" "likely pathogenic (recessive)" "ACMG"
"0000127370" "1" "90" "1" "94496008" "94496008" "subst" "2.03056E-5" "01695" "ABCA4_000148" "g.94496008C>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant significantly enriched in >3000 likely Caucasian STGD1 patients compared to the non-Finnish ExAC population" "SUMMARY record" "" "" "0" "" "" "g.94030452C>T" "" "pathogenic (recessive)" "ACMG"
"0000127371" "1" "50" "1" "94495994" "94495994" "subst" "0.00019493" "01695" "ABCA4_000548" "g.94495994C>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "not statistically tested, classification unknown" "SUMMARY record" "" "" "0" "" "" "g.94030438C>T" "" "VUS" "ACMG"
"0000127372" "1" "90" "1" "94495983" "94495983" "subst" "8.12348E-6" "01695" "ABCA4_000547" "g.94495983C>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94030427C>T" "" "pathogenic (recessive)" "ACMG"
"0000127373" "1" "70" "1" "94495188" "94495188" "subst" "0" "01695" "ABCA4_000546" "g.94495188C>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94029632C>A" "" "likely pathogenic (recessive)" "ACMG"
"0000127374" "1" "90" "1" "94495177" "94495177" "subst" "1.22342E-5" "01695" "ABCA4_000023" "g.94495177A>G" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94029621A>G" "" "pathogenic (recessive)" "ACMG"
"0000127376" "1" "90" "1" "94495157" "94495157" "subst" "0" "01695" "ABCA4_000545" "g.94495157C>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94029601C>T" "" "pathogenic (recessive)" "ACMG"
"0000127377" "1" "50" "1" "94495123" "94495123" "subst" "0.000117967" "01695" "ABCA4_000544" "g.94495123G>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant significantly enriched in >3000 likely Caucasian STGD1 patients compared to the non-Finnish ExAC population" "SUMMARY record" "" "" "0" "" "" "g.94029567G>T" "" "VUS" "ACMG"
"0000127378" "1" "70" "1" "94568570" "94568699" "del" "0" "01695" "ABCA4_000047" "g.(94564548_94568570)_(94568699_94574132)del" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "c.(?_443-1)_(570+1_?)del, c.443-?_570+?del" "" "SUMMARY record" "" "" "0" "" "" "g.(94098992_94103014)_(94103143_94108576)del" "" "likely pathogenic (recessive)" "ACMG"
"0000127380" "1" "90" "1" "94495083" "94495083" "subst" "0.000124542" "01695" "ABCA4_000542" "g.94495083G>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94029527G>A" "" "pathogenic (recessive)" "ACMG"
"0000127381" "1" "90" "1" "94495078" "94495078" "subst" "8.37044E-6" "01695" "ABCA4_000042" "g.94495078A>G" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94029522A>G" "" "pathogenic (recessive)" "ACMG"
"0000127382" "1" "90" "1" "94495077" "94495077" "subst" "0" "01695" "ABCA4_000184" "g.94495077C>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94029521C>T" "" "pathogenic (recessive)" "ACMG"
"0000127383" "1" "70" "1" "94495077" "94495077" "subst" "8.39461E-6" "01695" "ABCA4_000541" "g.94495077C>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94029521C>A" "" "likely pathogenic (recessive)" "ACMG"
"0000127384" "1" "50" "1" "94495073" "94495073" "subst" "0.000245534" "01695" "ABCA4_000540" "g.94495073C>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant significantly enriched in >3000 likely Caucasian STGD1 patients compared to the non-Finnish ExAC population" "SUMMARY record" "" "" "0" "" "" "g.94029517C>A" "" "VUS" "ACMG"
"0000127385" "1" "90" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94029515C>T" "" "pathogenic (recessive)" "ACMG"
"0000127386" "1" "90" "1" "94495034" "94495034" "subst" "5.28994E-6" "01695" "ABCA4_000539" "g.94495034G>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94029478G>T" "" "pathogenic (recessive)" "ACMG"
"0000127387" "1" "90" "1" "94495021" "94495021" "subst" "0.000161713" "01695" "ABCA4_000538" "g.94495021C>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94029465C>T" "" "pathogenic (recessive)" "ACMG"
"0000127388" "1" "70" "1" "94495021" "94495021" "subst" "0" "01695" "ABCA4_000537" "g.94495021C>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94029465C>A" "" "likely pathogenic (recessive)" "ACMG"
"0000127389" "1" "50" "1" "94495018" "94495018" "subst" "0" "01695" "ABCA4_000536" "g.94495018C>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94029462C>A" "" "VUS" "ACMG"
"0000127390" "1" "70" "1" "94495008" "94495008" "subst" "0" "01695" "ABCA4_000055" "g.94495008G>C" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94029452G>C" "" "likely pathogenic (recessive)" "ACMG"
"0000127391" "1" "50" "1" "94495005" "94495005" "subst" "6.58562E-6" "01695" "ABCA4_000535" "g.94495005G>C" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94029449G>C" "" "VUS" "ACMG"
"0000127392" "1" "90" "1" "94495009" "94495009" "del" "0" "01695" "ABCA4_000534" "g.94495009del" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant significantly enriched in >3000 likely Caucasian STGD1 patients compared to the non-Finnish ExAC population" "SUMMARY record" "" "" "0" "" "" "g.94029453del" "" "pathogenic (recessive)" "ACMG"
"0000127393" "1" "90" "1" "94495009" "94495009" "dup" "0" "01695" "ABCA4_000087" "g.94495009dup" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "c.4536_4537insC" "" "SUMMARY record" "" "" "0" "" "" "g.94029453dup" "" "pathogenic (recessive)" "ACMG"
"0000127394" "1" "90" "1" "94495001" "94495002" "ins" "0" "01695" "ABCA4_000531" "g.94495001_94495002insG" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant significantly enriched in >3000 likely Caucasian STGD1 patients compared to the non-Finnish ExAC population" "SUMMARY record" "" "" "0" "" "" "g.94029445_94029446insG" "" "pathogenic (recessive)" "ACMG"
"0000127395" "1" "70" "1" "94495002" "94495002" "subst" "0" "01695" "ABCA4_000532" "g.94495002T>G" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94029446T>G" "" "likely pathogenic (recessive)" "ACMG"
"0000127396" "1" "90" "1" "94495002" "94495002" "subst" "0" "01695" "ABCA4_000533" "g.94495002T>C" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94029446T>C" "" "pathogenic (recessive)" "ACMG"
"0000127397" "1" "90" "1" "94495000" "94495000" "subst" "0" "01695" "ABCA4_000164" "g.94495000C>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94029444C>A" "" "pathogenic (recessive)" "ACMG"
"0000127398" "1" "70" "1" "94494999" "94494999" "subst" "0" "01695" "ABCA4_000530" "g.94494999A>C" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94029443A>C" "" "likely pathogenic (recessive)" "ACMG"
"0000127399" "1" "90" "1" "94490606" "94490606" "subst" "4.06091E-6" "01695" "ABCA4_000086" "g.94490606T>C" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94025050T>C" "" "pathogenic (recessive)" "ACMG"
"0000127400" "1" "90" "1" "94490600" "94490601" "del" "0" "01695" "ABCA4_000528" "g.94490600_94490601del" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94025044_94025045del" "" "pathogenic (recessive)" "ACMG"
"0000127401" "1" "90" "1" "94568687" "94568687" "subst" "1.62641E-5" "01695" "ABCA4_000024" "g.94568687G>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94103131G>A" "" "pathogenic (recessive)" "ACMG"
"0000127402" "1" "50" "1" "94490592" "94490592" "subst" "0" "01695" "ABCA4_000527" "g.94490592T>G" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94025036T>G" "" "VUS" "ACMG"
"0000127403" "1" "90" "1" "94490589" "94490589" "del" "0" "01695" "ABCA4_000526" "g.94490589del" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "not statistically tested, classification unknown" "SUMMARY record" "" "" "0" "" "" "g.94025033del" "" "pathogenic (recessive)" "ACMG"
"0000127404" "1" "50" "1" "94490585" "94490585" "subst" "0" "01695" "ABCA4_000067" "g.94490585T>C" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant significantly enriched in >3000 likely Caucasian STGD1 patients compared to the non-Finnish ExAC population" "SUMMARY record" "" "" "0" "" "" "g.94025029T>C" "" "VUS" "ACMG"
"0000127405" "1" "50" "1" "94568686" "94568686" "subst" "0.00258122" "01695" "ABCA4_000212" "g.94568686C>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant frequency lower in a group of >3000 likely Caucasian STGD1 patients than in the ExAC non-Finnish population" "SUMMARY record" "" "" "0" "" "" "g.94103130C>T" "" "VUS" "ACMG"
"0000127406" "1" "50" "1" "94490570" "94490570" "subst" "0" "01695" "ABCA4_000525" "g.94490570A>G" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94025014A>G" "" "VUS" "ACMG"
"0000127407" "1" "90" "1" "94490567" "94490567" "subst" "5.68528E-5" "01695" "ABCA4_000026" "g.94490567G>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94025011G>A" "" "pathogenic (recessive)" "ACMG"
"0000127408" "1" "50" "1" "94568684" "94568684" "subst" "0" "01695" "ABCA4_000211" "g.94568684T>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant significantly enriched in >3000 likely Caucasian STGD1 patients compared to the non-Finnish ExAC population" "SUMMARY record" "" "" "0" "" "" "g.94103128T>A" "" "VUS" "ACMG"
"0000127409" "1" "90" "1" "94490550" "94490550" "subst" "0.000105588" "01695" "ABCA4_000523" "g.94490550C>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94024994C>T" "" "pathogenic (recessive)" "ACMG"
"0000127410" "1" "70" "1" "94490550" "94490550" "subst" "0" "01695" "ABCA4_000524" "g.94490550C>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94024994C>A" "" "likely pathogenic (recessive)" "ACMG"
"0000127411" "1" "90" "1" "94586557" "94586557" "subst" "4.06134E-6" "01695" "ABCA4_000259" "g.94586557C>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94121001C>T" "" "pathogenic (recessive)" "ACMG"
"0000127412" "1" "90" "1" "94490540" "94490540" "dup" "0" "01695" "ABCA4_000522" "g.94490540dup" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "not statistically tested, classification unknown" "SUMMARY record" "" "" "0" "" "" "g.94024984dup" "" "pathogenic (recessive)" "ACMG"
"0000127413" "1" "90" "1" "94490538" "94490539" "ins" "0" "01695" "ABCA4_000521" "g.94490538_94490539insA" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "not statistically tested, classification unknown" "SUMMARY record" "" "" "0" "" "" "g.94024982_94024983insA" "" "pathogenic (recessive)" "ACMG"
"0000127414" "1" "70" "1" "94490534" "94490534" "subst" "0.000125895" "01695" "ABCA4_000520" "g.94490534G>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94024978G>A" "" "likely pathogenic (recessive)" "ACMG"
"0000127415" "1" "50" "1" "94490522" "94490522" "subst" "0" "01695" "ABCA4_000519" "g.94490522A>G" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "not statistically tested, classification unknown" "SUMMARY record" "" "" "0" "" "" "g.94024966A>G" "" "VUS" "ACMG"
"0000127416" "1" "50" "1" "94490510" "94490510" "subst" "0" "01695" "ABCA4_000518" "g.94490510C>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant significantly enriched in >3000 likely Caucasian STGD1 patients compared to the non-Finnish ExAC population" "SUMMARY record" "" "" "0" "" "" "g.94024954C>T" "" "VUS" "ACMG"
"0000127417" "1" "90" "1" "94488975" "94488975" "subst" "0" "01695" "ABCA4_000517" "g.94488975C>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94023419C>A" "" "pathogenic (recessive)" "ACMG"
"0000127418" "1" "90" "1" "94488970" "94488970" "subst" "0" "01695" "ABCA4_000516" "g.94488970T>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94023414T>A" "" "pathogenic (recessive)" "ACMG"
"0000127419" "1" "90" "1" "94488956" "94488956" "subst" "0" "01695" "ABCA4_000515" "g.94488956C>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94023400C>T" "" "pathogenic (recessive)" "ACMG"
"0000127420" "1" "70" "1" "94488948" "94488948" "subst" "0" "01695" "ABCA4_000514" "g.94488948T>C" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94023392T>C" "" "likely pathogenic (recessive)" "ACMG"
"0000127421" "1" "90" "1" "94488943" "94488943" "del" "0" "01695" "ABCA4_000513" "g.94488943del" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94023387del" "" "pathogenic (recessive)" "ACMG"
"0000127422" "1" "90" "1" "94488941" "94488941" "subst" "4.09836E-6" "01695" "ABCA4_000127" "g.94488941C>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94023385C>T" "" "pathogenic (recessive)" "ACMG"
"0000127423" "1" "70" "1" "94488940" "94488940" "subst" "0" "01695" "ABCA4_000511" "g.94488940A>G" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94023384A>G" "" "likely pathogenic (recessive)" "ACMG"
"0000127424" "1" "70" "1" "94488940" "94488940" "subst" "0" "01695" "ABCA4_000510" "g.94488940A>C" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94023384A>C" "" "likely pathogenic (recessive)" "ACMG"
"0000127425" "1" "70" "1" "94488942" "94488942" "subst" "8.19309E-6" "01695" "ABCA4_000512" "g.94488942C>G" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "not statistically tested, classification unknown" "SUMMARY record" "" "" "0" "" "" "g.94023386C>G" "" "likely pathogenic (recessive)" "ACMG"
"0000127426" "1" "70" "1" "94487508" "94487508" "subst" "0" "01695" "ABCA4_000508" "g.94487508C>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94021952C>T" "" "likely pathogenic (recessive)" "ACMG"
"0000127427" "1" "70" "1" "94487509" "94487509" "subst" "0" "01695" "ABCA4_000509" "g.94487509T>C" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94021953T>C" "" "likely pathogenic (recessive)" "ACMG"
"0000127428" "1" "50" "1" "94568675" "94568675" "subst" "0.00146249" "01695" "ABCA4_000210" "g.94568675T>C" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94103119T>C" "" "VUS" "ACMG"
"0000127429" "1" "70" "1" "94487505" "94487505" "subst" "4.06349E-6" "01695" "ABCA4_000507" "g.94487505T>C" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94021949T>C" "" "likely pathogenic (recessive)" "ACMG"
"0000127430" "1" "50" "1" "94487490" "94487490" "subst" "0.00122268" "01695" "ABCA4_000506" "g.94487490A>G" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant frequency lower in a group of >3000 likely Caucasian STGD1 patients than in the ExAC non-Finnish population" "SUMMARY record" "" "" "0" "" "" "g.94021934A>G" "" "VUS" "ACMG"
"0000127431" "1" "90" "1" "94487468" "94487468" "del" "0" "01695" "ABCA4_000169" "g.94487468del" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94021912del" "" "pathogenic (recessive)" "ACMG"
"0000127432" "1" "50" "1" "94487460" "94487460" "subst" "0.000113716" "01695" "ABCA4_000505" "g.94487460G>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant significantly enriched in >3000 likely Caucasian STGD1 patients compared to the non-Finnish ExAC population" "SUMMARY record" "" "" "0" "" "" "g.94021904G>A" "" "VUS" "ACMG"
"0000127433" "1" "90" "1" "94487455" "94487455" "subst" "4.06128E-6" "01695" "ABCA4_000504" "g.94487455C>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94021899C>A" "" "pathogenic (recessive)" "ACMG"
"0000127434" "1" "90" "1" "94487438" "94487441" "del" "0" "01695" "ABCA4_000502" "g.94487438_94487441del" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94021882_94021885del" "" "pathogenic (recessive)" "ACMG"
"0000127435" "1" "90" "1" "94487443" "94487443" "del" "0" "01695" "ABCA4_000503" "g.94487443del" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94021887del" "" "pathogenic (recessive)" "ACMG"
"0000127436" "1" "50" "1" "94487436" "94487440" "delins" "0" "01695" "ABCA4_000501" "g.94487436_94487440delinsGG" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94021880_94021884delinsGG" "" "VUS" "ACMG"
"0000127437" "1" "90" "1" "94487439" "94487440" "del" "0" "01695" "ABCA4_000500" "g.94487439_94487440del" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94021883_94021884del" "" "pathogenic (recessive)" "ACMG"
"0000127438" "1" "90" "1" "94487440" "94487440" "del" "0" "01695" "ABCA4_000499" "g.94487440del" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94021884del" "" "pathogenic (recessive)" "ACMG"
"0000127439" "1" "70" "1" "94487436" "94487436" "subst" "2.03047E-5" "01695" "ABCA4_000498" "g.94487436A>G" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant significantly enriched in >3000 likely Caucasian STGD1 patients compared to the non-Finnish ExAC population" "SUMMARY record" "" "" "0" "" "" "g.94021880A>G" "" "likely pathogenic (recessive)" "ACMG"
"0000127440" "1" "50" "1" "94487404" "94487404" "subst" "0.00244055" "01695" "ABCA4_000497" "g.94487404C>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant frequency lower in a group of >3000 likely Caucasian STGD1 patients than in the ExAC non-Finnish population" "SUMMARY record" "" "" "0" "" "" "g.94021848C>T" "" "VUS" "ACMG"
"0000127441" "1" "90" "1" "94487401" "94487401" "subst" "4.06085E-6" "01695" "ABCA4_000995" "g.94487401C>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94021845C>T" "" "pathogenic (recessive)" "ACMG"
"0000127442" "1" "90" "1" "94487401" "94487401" "subst" "0" "01695" "ABCA4_000495" "g.94487401C>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94021845C>A" "" "pathogenic (recessive)" "ACMG"
"0000127443" "1" "70" "1" "94487400" "94487400" "subst" "0" "01695" "ABCA4_000494" "g.94487400A>G" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94021844A>G" "" "likely pathogenic (recessive)" "ACMG"
"0000127444" "1" "90" "1" "94487399" "94487399" "subst" "7.30959E-5" "01695" "ABCA4_000038" "g.94487399T>C" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94021843T>C" "" "pathogenic (recessive)" "ACMG"
"0000127445" "1" "70" "1" "94487397" "94487397" "subst" "0" "01695" "ABCA4_000493" "g.94487397C>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94021841C>T" "" "likely pathogenic (recessive)" "ACMG"
"0000127446" "1" "90" "1" "94487402" "94487402" "subst" "0" "01695" "ABCA4_000496" "g.94487402C>G" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant significantly enriched in >3000 likely Caucasian STGD1 patients compared to the non-Finnish ExAC population" "SUMMARY record" "" "" "0" "" "" "g.94021846C>G" "" "pathogenic (recessive)" "ACMG"
"0000127447" "1" "50" "1" "94487272" "94487272" "subst" "0" "01695" "ABCA4_000492" "g.94487272T>G" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94021716T>G" "" "VUS" "ACMG"
"0000127448" "1" "90" "1" "94568663" "94568663" "subst" "0" "01695" "ABCA4_000209" "g.94568663C>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94103107C>A" "" "pathogenic (recessive)" "ACMG"
"0000127449" "1" "90" "1" "94487251" "94487251" "subst" "2.85679E-5" "01695" "ABCA4_000490" "g.94487251G>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94021695G>T" "" "pathogenic (recessive)" "ACMG"
"0000127450" "1" "50" "1" "94487251" "94487251" "subst" "0" "01695" "ABCA4_000491" "g.94487251G>C" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "not statistically tested, classification unknown" "SUMMARY record" "" "" "0" "" "" "g.94021695G>C" "" "VUS" "ACMG"
"0000127451" "1" "50" "1" "94568660" "94568660" "subst" "4.06138E-6" "01695" "ABCA4_000208" "g.94568660C>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "not statistically tested, classification unknown" "SUMMARY record" "" "" "0" "" "" "g.94103104C>T" "" "VUS" "ACMG"
"0000127452" "1" "90" "1" "94487194" "94487194" "subst" "0" "01695" "ABCA4_000488" "g.94487194A>G" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94021638A>G" "" "pathogenic (recessive)" "ACMG"
"0000127453" "1" "90" "1" "94486960" "94486960" "subst" "8.13206E-6" "01695" "ABCA4_000487" "g.94486960C>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94021404C>T" "" "pathogenic (recessive)" "ACMG"
"0000127454" "1" "90" "1" "94486950" "94486955" "delins" "0" "01695" "ABCA4_000192" "g.94486950_94486955delinsAGGA" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94021394_94021399delinsAGGA" "" "pathogenic (recessive)" "ACMG"
"0000127456" "1" "50" "1" "94486944" "94486944" "subst" "0" "01695" "ABCA4_000039" "g.94486944A>C" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94021388A>C" "" "VUS" "ACMG"
"0000127457" "1" "90" "1" "94486942" "94486942" "subst" "0" "01695" "ABCA4_000061" "g.94486942C>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94021386C>T" "" "pathogenic (recessive)" "ACMG"
"0000127458" "1" "50" "1" "94486922" "94486922" "subst" "0" "01695" "ABCA4_000044" "g.94486922A>G" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94021366A>G" "" "VUS" "ACMG"
"0000127459" "1" "50" "1" "94486905" "94486905" "subst" "0.000105614" "01695" "ABCA4_000485" "g.94486905C>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94021349C>T" "" "VUS" "ACMG"
"0000127460" "1" "90" "1" "94486896" "94486896" "subst" "3.65562E-5" "01695" "ABCA4_000085" "g.94486896G>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94021340G>A" "" "pathogenic (recessive)" "ACMG"
"0000127461" "1" "90" "1" "94486895" "94486895" "subst" "3.24923E-5" "01695" "ABCA4_000484" "g.94486895C>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94021339C>T" "" "pathogenic (recessive)" "ACMG"
"0000127462" "1" "70" "1" "94486888" "94486888" "subst" "3.65548E-5" "01695" "ABCA4_000137" "g.94486888G>C" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant significantly enriched in >3000 likely Caucasian STGD1 patients compared to the non-Finnish ExAC population" "SUMMARY record" "" "" "0" "" "" "g.94021332G>C" "" "likely pathogenic (recessive)" "ACMG"
"0000127463" "1" "90" "1" "94486870" "94486870" "del" "0" "01695" "ABCA4_000483" "g.94486870del" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94021314del" "" "pathogenic (recessive)" "ACMG"
"0000127464" "1" "70" "1" "94486860" "94486860" "subst" "0" "01695" "ABCA4_000153" "g.94486860A>C" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant significantly enriched in >3000 likely Caucasian STGD1 patients compared to the non-Finnish ExAC population" "SUMMARY record" "" "" "0" "" "" "g.94021304A>C" "" "likely pathogenic (recessive)" "ACMG"
"0000127465" "1" "90" "1" "94486858" "94486858" "subst" "0" "01695" "ABCA4_000482" "g.94486858A>C" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94021302A>C" "" "pathogenic (recessive)" "ACMG"
"0000127466" "1" "90" "1" "94486836" "94486836" "del" "0" "01695" "ABCA4_000481" "g.94486836del" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94021280del" "" "pathogenic (recessive)" "ACMG"
"0000127467" "1" "50" "1" "94486815" "94486815" "subst" "0" "01695" "ABCA4_000480" "g.94486815G>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant significantly enriched in >3000 likely Caucasian STGD1 patients compared to the non-Finnish ExAC population" "SUMMARY record" "" "" "0" "" "" "g.94021259G>T" "" "VUS" "ACMG"
"0000127468" "1" "90" "1" "94486794" "94486794" "subst" "0" "01695" "ABCA4_000479" "g.94486794A>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94021238A>T" "" "pathogenic (recessive)" "ACMG"
"0000127469" "1" "90" "1" "94486794" "94486794" "subst" "0" "01695" "ABCA4_000478" "g.94486794A>G" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94021238A>G" "" "pathogenic (recessive)" "ACMG"
"0000127470" "1" "90" "1" "94485316" "94485319" "del" "0" "01695" "ABCA4_000477" "g.94485316_94485319del" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94019760_94019763del" "" "pathogenic (recessive)" "ACMG"
"0000127471" "1" "90" "1" "94485279" "94485293" "del" "0" "01695" "ABCA4_000476" "g.94485279_94485293del" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94019723_94019737del" "" "pathogenic (recessive)" "ACMG"
"0000127472" "1" "50" "1" "94485278" "94485278" "subst" "0.000487317" "01695" "ABCA4_000101" "g.94485278C>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant frequency lower in a group of >3000 likely Caucasian STGD1 patients than in the ExAC non-Finnish population" "SUMMARY record" "" "" "0" "" "" "g.94019722C>T" "" "VUS" "ACMG"
"0000127473" "1" "50" "1" "94485269" "94485269" "subst" "0" "01695" "ABCA4_000146" "g.94485269A>G" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant significantly enriched in >3000 likely Caucasian STGD1 patients compared to the non-Finnish ExAC population" "SUMMARY record" "" "" "0" "" "" "g.94019713A>G" "" "VUS" "ACMG"
"0000127474" "1" "50" "1" "94485257" "94485257" "subst" "0.00017945" "01695" "ABCA4_000100" "g.94485257C>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94019701C>T" "" "VUS" "ACMG"
"0000127475" "1" "70" "1" "94485247" "94485247" "subst" "4.07647E-5" "01695" "ABCA4_000475" "g.94485247C>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94019691C>T" "" "likely pathogenic (recessive)" "ACMG"
"0000127476" "1" "70" "1" "94485246" "94485246" "subst" "0" "01695" "ABCA4_000474" "g.94485246G>C" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94019690G>C" "" "likely pathogenic (recessive)" "ACMG"
"0000127477" "1" "50" "1" "94485227" "94485227" "subst" "0" "01695" "ABCA4_000473" "g.94485227G>C" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant significantly enriched in >3000 likely Caucasian STGD1 patients compared to the non-Finnish ExAC population" "SUMMARY record" "" "" "0" "" "" "g.94019671G>C" "" "VUS" "ACMG"
"0000127478" "1" "70" "1" "94485221" "94485221" "subst" "0" "01695" "ABCA4_000471" "g.94485221G>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94019665G>A" "" "likely pathogenic (recessive)" "ACMG"
"0000127479" "1" "90" "1" "94485220" "94485220" "subst" "0.000106324" "01695" "ABCA4_000121" "g.94485220C>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94019664C>T" "" "pathogenic (recessive)" "ACMG"
"0000127480" "1" "90" "1" "94485220" "94485220" "subst" "4.08938E-6" "01695" "ABCA4_000470" "g.94485220C>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94019664C>A" "" "pathogenic (recessive)" "ACMG"
"0000127481" "1" "90" "1" "94485196" "94485196" "subst" "8.239E-6" "01695" "ABCA4_000469" "g.94485196T>C" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant significantly enriched in >3000 likely Caucasian STGD1 patients compared to the non-Finnish ExAC population" "SUMMARY record" "" "" "0" "" "" "g.94019640T>C" "" "pathogenic (recessive)" "ACMG"
"0000127482" "1" "50" "1" "94568627" "94568627" "subst" "0.000422314" "01695" "ABCA4_000207" "g.94568627C>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant frequency lower in a group of >3000 likely Caucasian STGD1 patients than in the ExAC non-Finnish population" "SUMMARY record" "" "" "0" "" "" "g.94103071C>T" "" "VUS" "ACMG"
"0000127483" "1" "90" "1" "94485173" "94485174" "del" "0" "01695" "ABCA4_000468" "g.94485173_94485174del" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94019617_94019618del" "" "pathogenic (recessive)" "ACMG"
"0000127484" "1" "70" "1" "94485162" "94485162" "subst" "0" "01695" "ABCA4_000467" "g.94485162C>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94019606C>A" "" "likely pathogenic (recessive)" "ACMG"
"0000127485" "1" "50" "1" "94485157" "94485157" "subst" "0" "01695" "ABCA4_000466" "g.94485157G>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant significantly enriched in >3000 likely Caucasian STGD1 patients compared to the non-Finnish ExAC population" "SUMMARY record" "" "" "0" "" "" "g.94019601G>T" "" "VUS" "ACMG"
"0000127486" "1" "90" "1" "94568625" "94568625" "del" "0" "01695" "ABCA4_000206" "g.94568625del" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "not statistically tested, classification unknown" "SUMMARY record" "" "" "0" "" "" "g.94103069del" "" "pathogenic (recessive)" "ACMG"
"0000127487" "1" "70" "1" "94485148" "94485148" "subst" "4.27562E-6" "01695" "ABCA4_000099" "g.94485148A>G" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant significantly enriched in >3000 likely Caucasian STGD1 patients compared to the non-Finnish ExAC population" "SUMMARY record" "" "" "0" "" "" "g.94019592A>G" "" "likely pathogenic (recessive)" "ACMG"
"0000127488" "1" "90" "1" "94485137" "94485137" "subst" "0" "01695" "ABCA4_000464" "g.94485137C>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94019581C>T" "" "pathogenic (recessive)" "ACMG"
"0000127489" "1" "90" "1" "94485137" "94485137" "subst" "0" "01695" "ABCA4_000465" "g.94485137C>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94019581C>A" "" "pathogenic (recessive)" "ACMG"
"0000127490" "1" "90" "1" "94485136" "94485136" "subst" "0" "01695" "ABCA4_000189" "g.94485136A>G" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94019580A>G" "" "pathogenic (recessive)" "ACMG"
"0000127491" "1" "90" "1" "94485136" "94485136" "subst" "0" "01695" "ABCA4_000463" "g.94485136A>C" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94019580A>C" "" "pathogenic (recessive)" "ACMG"
"0000127492" "1" "70" "1" "94485134" "94485137" "del" "0" "01695" "ABCA4_000462" "g.94485134_94485137del" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant significantly enriched in >3000 likely Caucasian STGD1 patients compared to the non-Finnish ExAC population" "SUMMARY record" "" "" "0" "" "" "g.94019578_94019581del" "" "likely pathogenic (recessive)" "ACMG"
"0000127493" "1" "50" "1" "94485132" "94485137" "del" "0" "01695" "ABCA4_000461" "g.94485132_94485137del" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant significantly enriched in >3000 likely Caucasian STGD1 patients compared to the non-Finnish ExAC population" "SUMMARY record" "" "" "0" "" "" "g.94019576_94019581del" "" "VUS" "ACMG"
"0000127494" "1" "50" "1" "94481401" "94481401" "subst" "4.09199E-6" "01695" "ABCA4_000460" "g.94481401A>G" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant significantly enriched in >3000 likely Caucasian STGD1 patients compared to the non-Finnish ExAC population" "SUMMARY record" "" "" "0" "" "" "g.94015845A>G" "" "VUS" "ACMG"
"0000127495" "1" "90" "1" "94481385" "94481395" "del" "0" "01695" "ABCA4_000459" "g.94481385_94481395del" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94015829_94015839del" "" "pathogenic (recessive)" "ACMG"
"0000127496" "1" "90" "1" "94481380" "94481390" "del" "0" "01695" "ABCA4_000458" "g.94481380_94481390del" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94015824_94015834del" "" "pathogenic (recessive)" "ACMG"
"0000127497" "1" "50" "1" "94481373" "94481383" "del" "0" "01695" "ABCA4_001003" "g.94481373_94481383del" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94015817_94015827del" "" "VUS" "ACMG"
"0000127498" "1" "70" "1" "94481365" "94481365" "subst" "4.06636E-5" "01695" "ABCA4_000457" "g.94481365C>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant significantly enriched in >3000 likely Caucasian STGD1 patients compared to the non-Finnish ExAC population" "SUMMARY record" "" "" "0" "" "" "g.94015809C>T" "" "likely pathogenic (recessive)" "ACMG"
"0000127499" "1" "90" "1" "94481359" "94481359" "subst" "0" "01695" "ABCA4_000456" "g.94481359G>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94015803G>A" "" "pathogenic (recessive)" "ACMG"
"0000127500" "1" "50" "1" "94481347" "94481347" "subst" "0" "01695" "ABCA4_000455" "g.94481347A>C" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94015791A>C" "" "VUS" "ACMG"
"0000127501" "1" "70" "1" "94481322" "94481330" "del" "0" "01695" "ABCA4_000453" "g.94481322_94481330del" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94015766_94015774del" "" "likely pathogenic (recessive)" "ACMG"
"0000127502" "1" "70" "1" "94481322" "94481322" "subst" "0" "01695" "ABCA4_000129" "g.94481322G>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94015766G>T" "" "likely pathogenic (recessive)" "ACMG"
"0000127503" "1" "50" "1" "94481319" "94481319" "subst" "0" "01695" "ABCA4_000454" "g.94481319A>G" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94015763A>G" "" "VUS" "ACMG"
"0000127504" "1" "90" "1" "94481319" "94481319" "del" "0" "01695" "ABCA4_000098" "g.94481319del" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94015763del" "" "pathogenic (recessive)" "ACMG"
"0000127505" "1" "90" "1" "94586550" "94586550" "subst" "1.21864E-5" "01695" "ABCA4_000037" "g.94586550G>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94120994G>A" "" "pathogenic (recessive)" "ACMG"
"0000127506" "1" "50" "1" "94481307" "94481307" "subst" "0" "01695" "ABCA4_000452" "g.94481307A>G" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94015751A>G" "" "VUS" "ACMG"
"0000127507" "1" "90" "1" "94481304" "94481305" "del" "0" "01695" "ABCA4_000451" "g.94481304_94481305del" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "not statistically tested, classification unknown" "SUMMARY record" "" "" "0" "" "" "g.94015748_94015749del" "" "pathogenic (recessive)" "ACMG"
"0000127508" "1" "90" "1" "94481294" "94481294" "subst" "0" "01695" "ABCA4_000110" "g.94481294C>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94015738C>T" "" "pathogenic (recessive)" "ACMG"
"0000127509" "1" "90" "1" "94481293" "94481293" "subst" "4.07448E-6" "01695" "ABCA4_000057" "g.94481293A>C" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94015737A>C" "" "pathogenic (recessive)" "ACMG"
"0000127510" "1" "70" "1" "94481292" "94481292" "subst" "0" "01695" "ABCA4_000450" "g.94481292T>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94015736T>A" "" "likely pathogenic (recessive)" "ACMG"
"0000127511" "1" "50" "1" "94480249" "94480249" "subst" "0" "01695" "ABCA4_000449" "g.94480249G>C" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant significantly enriched in >3000 likely Caucasian STGD1 patients compared to the non-Finnish ExAC population" "SUMMARY record" "" "" "0" "" "" "g.94014693G>C" "" "VUS" "ACMG"
"0000127512" "1" "90" "1" "94480243" "94480243" "subst" "4.06124E-6" "01695" "ABCA4_000448" "g.94480243C>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94014687C>T" "" "pathogenic (recessive)" "ACMG"
"0000127513" "1" "70" "1" "94480241" "94480241" "subst" "0" "01695" "ABCA4_000447" "g.94480241G>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94014685G>T" "" "likely pathogenic (recessive)" "ACMG"
"0000127514" "1" "90" "1" "94480241" "94480241" "subst" "7.71705E-5" "01695" "ABCA4_000446" "g.94480241G>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94014685G>A" "" "pathogenic (recessive)" "ACMG"
"0000127515" "1" "70" "1" "94480235" "94480235" "subst" "8.12236E-6" "01695" "ABCA4_000445" "g.94480235A>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "not statistically tested, classification unknown" "SUMMARY record" "" "" "0" "" "" "g.94014679A>T" "" "likely pathogenic (recessive)" "ACMG"
"0000127516" "1" "90" "1" "94480232" "94480232" "subst" "0" "01695" "ABCA4_000444" "g.94480232G>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94014676G>A" "" "pathogenic (recessive)" "ACMG"
"0000127517" "1" "70" "1" "94480224" "94480224" "subst" "0" "01695" "ABCA4_000443" "g.94480224A>G" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "not statistically tested, classification unknown" "SUMMARY record" "" "" "0" "" "" "g.94014668A>G" "" "likely pathogenic (recessive)" "ACMG"
"0000127518" "1" "90" "1" "94480222" "94480222" "subst" "4.06121E-6" "01695" "ABCA4_000442" "g.94480222G>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94014666G>T" "" "pathogenic (recessive)" "ACMG"
"0000127519" "1" "90" "1" "94480222" "94480222" "subst" "0" "01695" "ABCA4_000441" "g.94480222G>C" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94014666G>C" "" "pathogenic (recessive)" "ACMG"
"0000127520" "1" "50" "1" "94480221" "94480221" "subst" "0.000109654" "01695" "ABCA4_000176" "g.94480221G>C" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant frequency lower in a group of >3000 likely Caucasian STGD1 patients than in the ExAC non-Finnish population" "SUMMARY record" "" "" "0" "" "" "g.94014665G>C" "" "VUS" "ACMG"
"0000127521" "1" "90" "1" "94480178" "94480178" "subst" "2.43692E-5" "01695" "ABCA4_000005" "g.94480178G>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94014622G>T" "" "pathogenic (recessive)" "ACMG"
"0000127522" "1" "90" "1" "94480164" "94480164" "subst" "0" "01695" "ABCA4_000440" "g.94480164T>C" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant significantly enriched in >3000 likely Caucasian STGD1 patients compared to the non-Finnish ExAC population" "SUMMARY record" "" "" "0" "" "" "g.94014608T>C" "" "pathogenic (recessive)" "ACMG"
"0000127523" "1" "70" "1" "94480146" "94480146" "subst" "2.84273E-5" "01695" "ABCA4_000122" "g.94480146T>C" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant significantly enriched in >3000 likely Caucasian STGD1 patients compared to the non-Finnish ExAC population" "SUMMARY record" "" "" "0" "" "" "g.94014590T>C" "" "likely pathogenic (recessive)" "ACMG"
"0000127524" "1" "50" "1" "94480108" "94480108" "subst" "0" "01695" "ABCA4_000439" "g.94480108C>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant significantly enriched in >3000 likely Caucasian STGD1 patients compared to the non-Finnish ExAC population" "SUMMARY record" "" "" "0" "" "" "g.94014552C>A" "" "VUS" "ACMG"
"0000127525" "1" "50" "1" "94480100" "94480100" "subst" "8.1217E-6" "01695" "ABCA4_000438" "g.94480100C>G" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant significantly enriched in >3000 likely Caucasian STGD1 patients compared to the non-Finnish ExAC population" "SUMMARY record" "" "" "0" "" "" "g.94014544C>G" "" "VUS" "ACMG"
"0000127526" "1" "90" "1" "94480098" "94480098" "subst" "0" "01695" "ABCA4_000437" "g.94480098C>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94014542C>T" "" "pathogenic (recessive)" "ACMG"
"0000127527" "1" "50" "1" "94480094" "94480094" "subst" "0" "01695" "ABCA4_000436" "g.94480094C>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94014538C>T" "" "VUS" "ACMG"
"0000127528" "1" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" "ACMG"
"0000127529" "1" "30" "1" "94476936" "94476936" "subst" "0" "01695" "ABCA4_000435" "g.94476936C>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant significantly enriched in >3000 likely Caucasian STGD1 patients compared to the non-Finnish ExAC population" "SUMMARY record" "" "" "0" "" "" "g.94011380C>T" "" "likely benign" "ACMG"
"0000127530" "1" "50" "1" "94568590" "94568591" "delins" "0" "01695" "ABCA4_000205" "g.94568590_94568591delinsCG" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94103034_94103035delinsCG" "" "VUS" "ACMG"
"0000127531" "1" "70" "1" "94476890" "94476890" "subst" "4.06227E-6" "01695" "ABCA4_000126" "g.94476890G>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94011334G>T" "" "likely pathogenic (recessive)" "ACMG"
"0000127532" "1" "70" "1" "94476890" "94476890" "subst" "4.06227E-6" "01695" "ABCA4_000434" "g.94476890G>C" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94011334G>C" "" "likely pathogenic (recessive)" "ACMG"
"0000127533" "1" "70" "1" "94476886" "94476886" "subst" "4.06227E-6" "01695" "ABCA4_000433" "g.94476886A>G" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant significantly enriched in >3000 likely Caucasian STGD1 patients compared to the non-Finnish ExAC population" "SUMMARY record" "" "" "0" "" "" "g.94011330A>G" "" "likely pathogenic (recessive)" "ACMG"
"0000127534" "1" "50" "1" "94568590" "94568590" "subst" "0" "01695" "ABCA4_000204" "g.94568590G>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94103034G>A" "" "VUS" "ACMG"
"0000127535" "1" "70" "1" "94476874" "94476879" "del" "0" "01695" "ABCA4_000431" "g.94476874_94476879del" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94011318_94011323del" "" "likely pathogenic (recessive)" "ACMG"
"0000127536" "1" "50" "1" "94476871" "94476871" "subst" "0" "01695" "ABCA4_000432" "g.94476871C>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94011315C>T" "" "VUS" "ACMG"
"0000127537" "1" "90" "1" "94476865" "94476865" "subst" "2.03107E-5" "01695" "ABCA4_000430" "g.94476865A>G" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94011309A>G" "" "pathogenic (recessive)" "ACMG"
"0000127538" "1" "70" "1" "94476853" "94476853" "subst" "4.06243E-6" "01695" "ABCA4_000429" "g.94476853A>G" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94011297A>G" "" "likely pathogenic (recessive)" "ACMG"
"0000127539" "1" "70" "1" "94476824" "94476824" "subst" "8.12889E-6" "01695" "ABCA4_000428" "g.94476824G>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant significantly enriched in >3000 likely Caucasian STGD1 patients compared to the non-Finnish ExAC population" "SUMMARY record" "" "" "0" "" "" "g.94011268G>A" "" "likely pathogenic (recessive)" "ACMG"
"0000127540" "1" "90" "1" "94476817" "94476817" "subst" "4.06458E-6" "01695" "ABCA4_000427" "g.94476817C>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94011261C>T" "" "pathogenic (recessive)" "ACMG"
"0000127541" "1" "70" "1" "94476813" "94476813" "subst" "0" "01695" "ABCA4_000426" "g.94476813C>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94011257C>T" "" "likely pathogenic (recessive)" "ACMG"
"0000127542" "1" "90" "1" "94476812" "94476812" "subst" "0" "01695" "ABCA4_000048" "g.94476812A>G" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant significantly enriched in >3000 likely Caucasian STGD1 patients compared to the non-Finnish ExAC population" "SUMMARY record" "" "" "0" "" "" "g.94011256A>G" "" "pathogenic (recessive)" "ACMG"
"0000127543" "1" "90" "1" "94476818" "94476818" "subst" "0" "01695" "ABCA4_000162" "g.94476818C>G" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "not statistically tested, classification unknown" "SUMMARY record" "" "" "0" "" "" "g.94011262C>G" "" "pathogenic (recessive)" "ACMG"
"0000127544" "1" "50" "1" "94476495" "94476495" "subst" "0" "01695" "ABCA4_000424" "g.94476495A>G" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant significantly enriched in >3000 likely Caucasian STGD1 patients compared to the non-Finnish ExAC population" "SUMMARY record" "" "" "0" "" "" "g.94010939A>G" "" "VUS" "ACMG"
"0000127545" "1" "90" "1" "94476486" "94476486" "subst" "0" "01695" "ABCA4_000423" "g.94476486C>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94010930C>T" "" "pathogenic (recessive)" "ACMG"
"0000127546" "1" "70" "1" "94568582" "94568582" "subst" "2.03034E-5" "01695" "ABCA4_000203" "g.94568582G>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94103026G>A" "" "likely pathogenic (recessive)" "ACMG"
"0000127547" "1" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94010911T>A" "" "VUS (!)" "ACMG"
"0000127548" "1" "50" "1" "94568581" "94568581" "subst" "3.65458E-5" "01695" "ABCA4_000202" "g.94568581C>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94103025C>T" "" "VUS" "ACMG"
"0000127549" "1" "50" "1" "94476427" "94476441" "dup" "0" "01695" "ABCA4_000421" "g.94476427_94476441dup" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94010871_94010885dup" "" "VUS" "ACMG"
"0000127550" "1" "50" "1" "94476428" "94476428" "subst" "7.71699E-5" "01695" "ABCA4_000422" "g.94476428G>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94010872G>A" "" "VUS" "ACMG"
"0000127551" "1" "70" "1" "94476426" "94476426" "subst" "0" "01695" "ABCA4_000420" "g.94476426T>C" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94010870T>C" "" "likely pathogenic (recessive)" "ACMG"
"0000127552" "1" "90" "1" "94476425" "94476425" "subst" "8.12282E-6" "01695" "ABCA4_000419" "g.94476425A>G" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94010869A>G" "" "pathogenic (recessive)" "ACMG"
"0000127553" "1" "90" "1" "94476424" "94476424" "subst" "2.43694E-5" "01695" "ABCA4_000418" "g.94476424C>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94010868C>T" "" "pathogenic (recessive)" "ACMG"
"0000127554" "1" "90" "1" "94568577" "94568577" "del" "0" "01695" "ABCA4_000201" "g.94568577del" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94103021del" "" "pathogenic (recessive)" "ACMG"
"0000127555" "1" "50" "1" "94476419" "94476419" "subst" "0" "01695" "ABCA4_000417" "g.94476419A>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant significantly enriched in >3000 likely Caucasian STGD1 patients compared to the non-Finnish ExAC population" "SUMMARY record" "" "" "0" "" "" "g.94010863A>T" "" "VUS" "ACMG"
"0000127556" "1" "70" "1" "94476417" "94476417" "subst" "0" "01695" "ABCA4_000416" "g.94476417C>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant significantly enriched in >3000 likely Caucasian STGD1 patients compared to the non-Finnish ExAC population" "SUMMARY record" "" "" "0" "" "" "g.94010861C>T" "" "likely pathogenic (recessive)" "ACMG"
"0000127557" "1" "70" "1" "94476413" "94476413" "subst" "0" "01695" "ABCA4_000415" "g.94476413C>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94010857C>T" "" "likely pathogenic (recessive)" "ACMG"
"0000127558" "1" "50" "1" "94476401" "94476403" "del" "0" "01695" "ABCA4_000414" "g.94476401_94476403del" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94010845_94010847del" "" "VUS" "ACMG"
"0000127559" "1" "50" "1" "94476383" "94476383" "subst" "4.0622E-6" "01695" "ABCA4_000413" "g.94476383A>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant significantly enriched in >3000 likely Caucasian STGD1 patients compared to the non-Finnish ExAC population" "SUMMARY record" "" "" "0" "" "" "g.94010827A>T" "" "VUS" "ACMG"
"0000127560" "1" "50" "1" "94476378" "94476378" "subst" "0.000499679" "01695" "ABCA4_000412" "g.94476378G>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94010822G>A" "" "VUS" "ACMG"
"0000127561" "1" "50" "1" "94476377" "94476377" "subst" "0.00160473" "01695" "ABCA4_000411" "g.94476377C>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94010821C>T" "" "VUS" "ACMG"
"0000127562" "1" "90" "1" "94568570" "94568570" "subst" "0" "01695" "ABCA4_000200" "g.94568570C>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "not statistically tested, classification unknown" "SUMMARY record" "" "" "0" "" "" "g.94103014C>T" "" "pathogenic (recessive)" "ACMG"
"0000127563" "1" "50" "1" "94568571" "94568571" "subst" "0" "01695" "ABCA4_000172" "g.94568571C>G" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant significantly enriched in >3000 likely Caucasian STGD1 patients compared to the non-Finnish ExAC population" "SUMMARY record" "" "" "0" "" "" "g.94103015C>G" "" "VUS" "ACMG"
"0000127564" "1" "90" "1" "94564548" "94564548" "subst" "0" "01695" "ABCA4_000197" "g.94564548C>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94098992C>A" "" "pathogenic (recessive)" "ACMG"
"0000127565" "1" "90" "1" "94564549" "94564549" "subst" "0" "01695" "ABCA4_000198" "g.94564549T>C" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94098993T>C" "" "pathogenic (recessive)" "ACMG"
"0000127566" "1" "90" "1" "94564549" "94564549" "subst" "0" "01695" "ABCA4_000199" "g.94564549T>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94098993T>A" "" "pathogenic (recessive)" "ACMG"
"0000127567" "1" "90" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94010795C>T" "" "pathogenic (!)" "ACMG"
"0000127568" "1" "50" "1" "94564544" "94564544" "subst" "0.000432798" "01695" "ABCA4_000383" "g.94564544C>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant significantly enriched in >3000 likely Caucasian STGD1 patients compared to the non-Finnish ExAC population" "SUMMARY record" "" "" "0" "" "" "g.94098988C>T" "" "VUS" "ACMG"
"0000127569" "1" "90" "1" "94474381" "94474381" "subst" "1.21849E-5" "01695" "ABCA4_000410" "g.94474381C>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant significantly enriched in >3000 likely Caucasian STGD1 patients compared to the non-Finnish ExAC population" "SUMMARY record" "" "" "0" "" "" "g.94008825C>T" "" "pathogenic (recessive)" "ACMG"
"0000127570" "1" "90" "1" "94474381" "94474382" "dup" "0" "01695" "ABCA4_000409" "g.94474381_94474382dup" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94008825_94008826dup" "" "pathogenic (recessive)" "ACMG"
"0000127571" "1" "90" "1" "94474366" "94474366" "subst" "0" "01695" "ABCA4_000408" "g.94474366G>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "not statistically tested, classification unknown" "SUMMARY record" "" "" "0" "" "" "g.94008810G>A" "" "pathogenic (recessive)" "ACMG"
"0000127572" "1" "90" "1" "94474323" "94474323" "subst" "2.03034E-5" "01695" "ABCA4_000156" "g.94474323A>G" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94008767A>G" "" "pathogenic (recessive)" "ACMG"
"0000127573" "1" "50" "1" "94474320" "94474320" "subst" "4.06065E-6" "01695" "ABCA4_000407" "g.94474320T>G" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant significantly enriched in >3000 likely Caucasian STGD1 patients compared to the non-Finnish ExAC population" "SUMMARY record" "" "" "0" "" "" "g.94008764T>G" "" "VUS" "ACMG"
"0000127574" "1" "50" "1" "94474314" "94474314" "subst" "0" "01695" "ABCA4_000406" "g.94474314A>G" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94008758A>G" "" "VUS" "ACMG"
"0000127575" "1" "50" "1" "94473855" "94473855" "subst" "0" "01695" "ABCA4_000405" "g.94473855T>G" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94008299T>G" "" "VUS" "ACMG"
"0000127576" "1" "90" "1" "94473855" "94473855" "del" "4.06105E-6" "01695" "ABCA4_000404" "g.94473855del" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94008299del" "" "pathogenic (recessive)" "ACMG"
"0000127577" "1" "90" "1" "94473856" "94473856" "subst" "0" "01695" "ABCA4_000058" "g.94473856G>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant significantly enriched in >3000 likely Caucasian STGD1 patients compared to the non-Finnish ExAC population" "SUMMARY record" "" "" "0" "" "" "g.94008300G>T" "" "pathogenic (recessive)" "ACMG"
"0000127578" "1" "50" "1" "94473845" "94473846" "inv" "0" "01695" "ABCA4_000403" "g.94473845_94473846inv" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94008289_94008290inv" "" "VUS" "ACMG"
"0000127579" "1" "30" "1" "94473846" "94473846" "subst" "0.0315833" "01695" "ABCA4_000001" "g.94473846G>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94008290G>A" "" "likely benign" "ACMG"
"0000127580" "1" "70" "1" "94473808" "94473808" "subst" "8.52861E-5" "01695" "ABCA4_000196" "g.94473808C>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94008252C>T" "" "likely pathogenic (recessive)" "ACMG"
"0000127581" "1" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (!)" "ACMG"
"0000127582" "1" "90" "1" "94473801" "94473801" "del" "0" "01695" "ABCA4_000402" "g.94473801del" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94008245del" "" "pathogenic (recessive)" "ACMG"
"0000127583" "1" "90" "1" "94473797" "94473797" "del" "0" "01695" "ABCA4_000401" "g.94473797del" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94008241del" "" "pathogenic (recessive)" "ACMG"
"0000127584" "1" "90" "1" "94473790" "94473790" "subst" "0" "01695" "ABCA4_000399" "g.94473790C>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94008234C>T" "" "pathogenic (recessive)" "ACMG"
"0000127585" "1" "70" "1" "94473790" "94473790" "subst" "0" "01695" "ABCA4_000400" "g.94473790C>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94008234C>A" "" "likely pathogenic (recessive)" "ACMG"
"0000127586" "1" "70" "1" "94473788" "94473788" "del" "0" "01695" "ABCA4_000398" "g.94473788del" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant significantly enriched in >3000 likely Caucasian STGD1 patients compared to the non-Finnish ExAC population" "SUMMARY record" "" "" "0" "" "" "g.94008232del" "" "likely pathogenic (recessive)" "ACMG"
"0000127587" "1" "70" "1" "94473298" "94473298" "del" "0" "01695" "ABCA4_000396" "g.94473298del" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94007742del" "" "likely pathogenic (recessive)" "ACMG"
"0000127588" "1" "90" "1" "94473298" "94473299" "del" "0" "01695" "ABCA4_000397" "g.94473298_94473299del" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94007742_94007743del" "" "pathogenic (recessive)" "ACMG"
"0000127589" "1" "50" "1" "94473287" "94473287" "subst" "0.00293818" "01695" "ABCA4_000395" "g.94473287G>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant frequency lower in a group of >3000 likely Caucasian STGD1 patients than in the ExAC non-Finnish population" "SUMMARY record" "" "" "0" "" "" "g.94007731G>A" "" "VUS" "ACMG"
"0000127590" "1" "50" "1" "94473283" "94473283" "subst" "0" "01695" "ABCA4_000394" "g.94473283A>C" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94007727A>C" "" "VUS" "ACMG"
"0000127591" "1" "70" "1" "94473281" "94473281" "subst" "0" "01695" "ABCA4_000393" "g.94473281C>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94007725C>T" "" "likely pathogenic (recessive)" "ACMG"
"0000127592" "1" "90" "1" "94473278" "94473278" "del" "3.25908E-5" "01695" "ABCA4_000392" "g.94473278del" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94007722del" "" "pathogenic (recessive)" "ACMG"
"0000127593" "1" "50" "1" "94473274" "94473274" "subst" "0" "01695" "ABCA4_000391" "g.94473274T>C" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant significantly enriched in >3000 likely Caucasian STGD1 patients compared to the non-Finnish ExAC population" "SUMMARY record" "" "" "0" "" "" "g.94007718T>C" "" "VUS" "ACMG"
"0000127594" "1" "70" "1" "94473272" "94473272" "subst" "0" "01695" "ABCA4_000390" "g.94473272C>G" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94007716C>G" "" "likely pathogenic (recessive)" "ACMG"
"0000127595" "1" "90" "1" "94473266" "94473266" "subst" "8.14677E-6" "01695" "ABCA4_000389" "g.94473266C>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94007710C>T" "" "pathogenic (recessive)" "ACMG"
"0000127596" "1" "70" "1" "94473263" "94473263" "subst" "0" "01695" "ABCA4_000097" "g.94473263T>C" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "not statistically tested, classification unknown" "SUMMARY record" "" "" "0" "" "" "g.94007707T>C" "" "likely pathogenic (recessive)" "ACMG"
"0000127597" "1" "90" "1" "94473263" "94473263" "del" "0" "01695" "ABCA4_000388" "g.94473263del" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "not statistically tested, classification unknown" "SUMMARY record" "" "" "0" "" "" "g.94007707del" "" "pathogenic (recessive)" "ACMG"
"0000127598" "1" "90" "1" "94473231" "94473234" "del" "0" "01695" "ABCA4_000387" "g.94473231_94473234del" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94007675_94007678del" "" "pathogenic (recessive)" "ACMG"
"0000127599" "1" "90" "1" "94473189" "94473189" "subst" "0" "01695" "ABCA4_000386" "g.94473189C>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94007633C>T" "" "pathogenic (recessive)" "ACMG"
"0000127600" "1" "90" "1" "94473189" "94473189" "subst" "0" "01695" "ABCA4_000385" "g.94473189C>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94007633C>A" "" "pathogenic (recessive)" "ACMG"
"0000127601" "1" "90" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94005509G>A" "" "pathogenic (recessive)" "ACMG"
"0000127602" "1" "90" "1" "94471056" "94471056" "subst" "2.84398E-5" "01695" "ABCA4_000050" "g.94471056G>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94005500G>A" "" "pathogenic (recessive)" "ACMG"
"0000127603" "1" "90" "1" "94471055" "94471055" "subst" "0.00035346" "01695" "ABCA4_000029" "g.94471055C>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94005499C>T" "" "pathogenic (!)" "ACMG"
"0000127604" "1" "90" "1" "94471049" "94471049" "subst" "0" "01695" "ABCA4_000795" "g.94471049T>C" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant significantly enriched in >3000 likely Caucasian STGD1 patients compared to the non-Finnish ExAC population" "SUMMARY record" "" "" "0" "" "" "g.94005493T>C" "" "pathogenic (recessive)" "ACMG"
"0000127605" "1" "90" "1" "94471046" "94471046" "subst" "0" "01695" "ABCA4_000794" "g.94471046A>G" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "not statistically tested, classification unknown" "SUMMARY record" "" "" "0" "" "" "g.94005490A>G" "" "pathogenic (recessive)" "ACMG"
"0000127606" "1" "90" "1" "94471046" "94471046" "subst" "0" "01695" "ABCA4_000793" "g.94471046A>C" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94005490A>C" "" "pathogenic (recessive)" "ACMG"
"0000127607" "1" "50" "1" "94471040" "94471040" "subst" "0" "01695" "ABCA4_000123" "g.94471040A>G" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94005484A>G" "" "VUS" "ACMG"
"0000127608" "1" "90" "1" "94471032" "94471032" "subst" "1.62553E-5" "01695" "ABCA4_000792" "g.94471032G>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94005476G>A" "" "pathogenic (recessive)" "ACMG"
"0000127609" "1" "90" "1" "94471026" "94471026" "subst" "1.21925E-5" "01695" "ABCA4_000791" "g.94471026G>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94005470G>A" "" "pathogenic (recessive)" "ACMG"
"0000127610" "1" "90" "1" "94471025" "94471025" "subst" "0.00031698" "01695" "ABCA4_000096" "g.94471025C>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94005469C>T" "" "pathogenic (recessive)" "ACMG"
"0000127611" "1" "70" "1" "94471022" "94471022" "subst" "0" "01695" "ABCA4_000790" "g.94471022C>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94005466C>T" "" "likely pathogenic (recessive)" "ACMG"
"0000127612" "1" "50" "1" "94471004" "94471004" "subst" "0" "01695" "ABCA4_000789" "g.94471004A>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94005448A>T" "" "VUS" "ACMG"
"0000127613" "1" "90" "1" "94470995" "94470995" "subst" "0" "01695" "ABCA4_000183" "g.94470995A>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94005439A>T" "" "pathogenic (recessive)" "ACMG"
"0000127614" "1" "90" "1" "94463476" "94468246" "delins" "0" "01695" "ABCA4_000800" "g.94463476_94468246delinsCTAGGGAGGTGCACA" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.93997920_94002690delinsCTAGGGAGGTGCACA" "" "pathogenic (recessive)" "ACMG"
"0000127615" "1" "50" "1" "94467548" "94467548" "subst" "0.00295661" "01695" "ABCA4_000788" "g.94467548C>G" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant frequency lower in a group of >3000 likely Caucasian STGD1 patients than in the ExAC non-Finnish population" "SUMMARY record" "" "" "0" "" "" "g.94001992C>G" "" "VUS" "ACMG"
"0000127616" "1" "70" "1" "94467523" "94467523" "subst" "0" "01695" "ABCA4_000787" "g.94467523A>C" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "not statistically tested, classification unknown" "SUMMARY record" "" "" "0" "" "" "g.94001967A>C" "" "likely pathogenic (recessive)" "ACMG"
"0000127617" "1" "90" "1" "94467517" "94467517" "subst" "0" "01695" "ABCA4_000786" "g.94467517A>C" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94001961A>C" "" "pathogenic (recessive)" "ACMG"
"0000127618" "1" "70" "1" "94564500" "94564501" "del" "0" "01695" "ABCA4_000382" "g.94564500_94564501del" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94098944_94098945del" "" "likely pathogenic (recessive)" "ACMG"
"0000127619" "1" "50" "1" "94564500" "94564500" "subst" "0.00100414" "01695" "ABCA4_000069" "g.94564500G>C" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94098944G>C" "" "VUS" "ACMG"
"0000127620" "1" "90" "1" "94467506" "94467506" "subst" "3.24913E-5" "01695" "ABCA4_000785" "g.94467506C>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "not statistically tested, classification unknown" "SUMMARY record" "" "" "0" "" "" "g.94001950C>T" "" "pathogenic (recessive)" "ACMG"
"0000127621" "1" "90" "1" "94467500" "94467500" "del" "0" "01695" "ABCA4_000784" "g.94467500del" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "not statistically tested, classification unknown" "SUMMARY record" "" "" "0" "" "" "g.94001944del" "" "pathogenic (recessive)" "ACMG"
"0000127622" "1" "90" "1" "94586541" "94586541" "subst" "4.0624E-6" "01695" "ABCA4_000256" "g.94586541G>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94120985G>A" "" "pathogenic (recessive)" "ACMG"
"0000127623" "1" "70" "1" "94467487" "94467487" "subst" "0" "01695" "ABCA4_000783" "g.94467487G>C" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant significantly enriched in >3000 likely Caucasian STGD1 patients compared to the non-Finnish ExAC population" "SUMMARY record" "" "" "0" "" "" "g.94001931G>C" "" "likely pathogenic (recessive)" "ACMG"
"0000127624" "1" "50" "1" "94467484" "94467484" "subst" "0" "01695" "ABCA4_000782" "g.94467484T>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant significantly enriched in >3000 likely Caucasian STGD1 patients compared to the non-Finnish ExAC population" "SUMMARY record" "" "" "0" "" "" "g.94001928T>A" "" "VUS" "ACMG"
"0000127625" "1" "70" "1" "94467476" "94467476" "subst" "0" "01695" "ABCA4_000781" "g.94467476C>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94001920C>T" "" "likely pathogenic (recessive)" "ACMG"
"0000127626" "1" "90" "1" "94467475" "94467475" "subst" "3.65542E-5" "01695" "ABCA4_000171" "g.94467475C>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94001919C>A" "" "pathogenic (recessive)" "ACMG"
"0000127627" "1" "90" "1" "94467467" "94467467" "subst" "4.06164E-6" "01695" "ABCA4_000095" "g.94467467G>C" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94001911G>C" "" "pathogenic (recessive)" "ACMG"
"0000127628" "1" "90" "1" "94467467" "94467467" "subst" "4.06164E-6" "01695" "ABCA4_000780" "g.94467467G>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94001911G>A" "" "pathogenic (recessive)" "ACMG"
"0000127629" "1" "50" "1" "94467466" "94467466" "subst" "8.12328E-6" "01695" "ABCA4_000779" "g.94467466C>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94001910C>T" "" "VUS" "ACMG"
"0000127630" "1" "90" "1" "94467460" "94467461" "del" "0" "01695" "ABCA4_000778" "g.94467460_94467461del" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94001904_94001905del" "" "pathogenic (recessive)" "ACMG"
"0000127631" "1" "90" "1" "94467413" "94467413" "subst" "8.12612E-6" "01695" "ABCA4_000131" "g.94467413C>G" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94001857C>G" "" "pathogenic (recessive)" "ACMG"
"0000127632" "1" "10" "1" "94467407" "94467407" "subst" "0.0756573" "01695" "ABCA4_000846" "g.94467407C>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94001851C>T" "" "benign" "ACMG"
"0000127633" "1" "70" "1" "94466660" "94466660" "subst" "0" "01695" "ABCA4_000845" "g.94466660T>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "not statistically tested, classification unknown" "SUMMARY record" "" "" "0" "" "" "g.94001104T>A" "" "likely pathogenic (recessive)" "ACMG"
"0000127634" "1" "70" "1" "94466658" "94466658" "subst" "8.14817E-6" "01695" "ABCA4_000132" "g.94466658C>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94001102C>T" "" "likely pathogenic (recessive)" "ACMG"
"0000127635" "1" "70" "1" "94466657" "94466657" "subst" "0" "01695" "ABCA4_000843" "g.94466657T>C" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94001101T>C" "" "likely pathogenic (recessive)" "ACMG"
"0000127636" "1" "90" "1" "94466657" "94466657" "subst" "0" "01695" "ABCA4_000844" "g.94466657T>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "not statistically tested, classification unknown" "SUMMARY record" "" "" "0" "" "" "g.94001101T>A" "" "pathogenic (recessive)" "ACMG"
"0000127637" "1" "90" "1" "94466655" "94466655" "subst" "0" "01695" "ABCA4_000842" "g.94466655G>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "not statistically tested, classification unknown" "SUMMARY record" "" "" "0" "" "" "g.94001099G>A" "" "pathogenic (recessive)" "ACMG"
"0000127638" "1" "90" "1" "94466646" "94466646" "del" "0" "01695" "ABCA4_000170" "g.94466646del" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94001090del" "" "pathogenic (recessive)" "ACMG"
"0000127639" "1" "90" "1" "94466638" "94466638" "subst" "2.8465E-5" "01695" "ABCA4_000841" "g.94466638G>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant significantly enriched in >3000 likely Caucasian STGD1 patients compared to the non-Finnish ExAC population" "SUMMARY record" "" "" "0" "" "" "g.94001082G>T" "" "pathogenic (recessive)" "ACMG"
"0000127640" "1" "90" "1" "94466628" "94466628" "subst" "0.000109748" "01695" "ABCA4_000094" "g.94466628G>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94001072G>A" "" "pathogenic (recessive)" "ACMG"
"0000127641" "1" "90" "1" "94466627" "94466627" "subst" "0" "01695" "ABCA4_000840" "g.94466627C>G" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "not statistically tested, classification unknown" "SUMMARY record" "" "" "0" "" "" "g.94001071C>G" "" "pathogenic (recessive)" "ACMG"
"0000127642" "1" "90" "1" "94466621" "94466627" "del" "0" "01695" "ABCA4_000837" "g.94466621_94466627del" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94001065_94001071del" "" "pathogenic (recessive)" "ACMG"
"0000127643" "1" "90" "1" "94466625" "94466625" "subst" "1.62559E-5" "01695" "ABCA4_000839" "g.94466625G>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94001069G>A" "" "pathogenic (recessive)" "ACMG"
"0000127644" "1" "70" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94001068C>T" "" "likely pathogenic (recessive)" "ACMG"
"0000127645" "1" "90" "1" "94466624" "94466624" "subst" "0" "01695" "ABCA4_000838" "g.94466624C>G" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94001068C>G" "" "pathogenic (recessive)" "ACMG"
"0000127646" "1" "90" "1" "94466615" "94466615" "subst" "0" "01695" "ABCA4_000836" "g.94466615C>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94001059C>T" "" "pathogenic (recessive)" "ACMG"
"0000127647" "1" "70" "1" "94466605" "94466605" "subst" "0" "01695" "ABCA4_000157" "g.94466605G>C" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94001049G>C" "" "likely pathogenic (recessive)" "ACMG"
"0000127648" "1" "70" "1" "94466602" "94466602" "subst" "1.62472E-5" "01695" "ABCA4_000035" "g.94466602C>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94001046C>T" "" "likely pathogenic (recessive)" "ACMG"
"0000127649" "1" "90" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant significantly enriched in >3000 likely Caucasian STGD1 patients compared to the non-Finnish ExAC population; multiple other variant changes at the same position are enriched in >3000 likely Caucasian STGD1 patients, supporting pathogenicity according to ACMG guidelines" "SUMMARY record" "" "" "0" "" "" "g.94098928G>A" "" "pathogenic (recessive)" "ACMG"
"0000127650" "1" "90" "1" "94466592" "94466592" "del" "0" "01695" "ABCA4_000835" "g.94466592del" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "not statistically tested, classification unknown" "SUMMARY record" "" "" "0" "" "" "g.94001036del" "" "pathogenic (recessive)" "ACMG"
"0000127651" "1" "30" "1" "94564483" "94564483" "subst" "0.0409724" "01695" "ABCA4_000009" "g.94564483C>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94098927C>T" "" "likely benign" "ACMG"
"0000127652" "1" "70" "1" "94466561" "94466561" "subst" "8.12288E-6" "01695" "ABCA4_000834" "g.94466561T>C" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant significantly enriched in >3000 likely Caucasian STGD1 patients compared to the non-Finnish ExAC population" "SUMMARY record" "" "" "0" "" "" "g.94001005T>C" "" "likely pathogenic (recessive)" "ACMG"
"0000127653" "1" "90" "1" "94466559" "94466559" "subst" "0" "01695" "ABCA4_000833" "g.94466559T>C" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant significantly enriched in >3000 likely Caucasian STGD1 patients compared to the non-Finnish ExAC population" "SUMMARY record" "" "" "0" "" "" "g.94001003T>C" "" "pathogenic (recessive)" "ACMG"
"0000127654" "1" "90" "1" "94466557" "94466557" "subst" "4.06154E-6" "01695" "ABCA4_000832" "g.94466557C>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94001001C>T" "" "pathogenic (recessive)" "ACMG"
"0000127655" "1" "90" "1" "94466556" "94466556" "subst" "4.06164E-6" "01695" "ABCA4_000831" "g.94466556G>C" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94001000G>C" "" "pathogenic (recessive)" "ACMG"
"0000127656" "1" "70" "1" "94466485" "94466485" "subst" "0" "01695" "ABCA4_000830" "g.94466485C>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94000929C>A" "" "likely pathogenic (recessive)" "ACMG"
"0000127657" "1" "90" "1" "94466482" "94466482" "subst" "0" "01695" "ABCA4_000829" "g.94466482A>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "not statistically tested, classification unknown" "SUMMARY record" "" "" "0" "" "" "g.94000926A>T" "" "pathogenic (recessive)" "ACMG"
"0000127658" "1" "70" "1" "94466482" "94466482" "subst" "0" "01695" "ABCA4_000828" "g.94466482A>G" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94000926A>G" "" "likely pathogenic (recessive)" "ACMG"
"0000127659" "1" "70" "1" "94466480" "94466480" "subst" "4.06088E-6" "01695" "ABCA4_000827" "g.94466480C>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant significantly enriched in >3000 likely Caucasian STGD1 patients compared to the non-Finnish ExAC population" "SUMMARY record" "" "" "0" "" "" "g.94000924C>T" "" "likely pathogenic (recessive)" "ACMG"
"0000127660" "1" "70" "1" "94466477" "94466477" "subst" "0" "01695" "ABCA4_000826" "g.94466477C>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant significantly enriched in >3000 likely Caucasian STGD1 patients compared to the non-Finnish ExAC population" "SUMMARY record" "" "" "0" "" "" "g.94000921C>T" "" "likely pathogenic (recessive)" "ACMG"
"0000127661" "1" "90" "1" "94466461" "94466461" "subst" "0" "01695" "ABCA4_000825" "g.94466461C>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94000905C>T" "" "pathogenic (recessive)" "ACMG"
"0000127662" "1" "90" "1" "94466460" "94466460" "subst" "0" "01695" "ABCA4_000824" "g.94466460A>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94000904A>T" "" "pathogenic (recessive)" "ACMG"
"0000127663" "1" "90" "1" "94466456" "94466456" "subst" "8.1217E-6" "01695" "ABCA4_000181" "g.94466456G>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94000900G>A" "" "pathogenic (recessive)" "ACMG"
"0000127664" "1" "70" "1" "94466455" "94466455" "subst" "0" "01695" "ABCA4_000165" "g.94466455C>G" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94000899C>G" "" "likely pathogenic (recessive)" "ACMG"
"0000127665" "1" "90" "1" "94466452" "94466452" "subst" "4.06088E-6" "01695" "ABCA4_000822" "g.94466452A>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant significantly enriched in >3000 likely Caucasian STGD1 patients compared to the non-Finnish ExAC population; another variant, giving the same predicted amino acid change, was significantly enriched in the same cohort, supporting its pathogenicity according to ACMG guidelines" "SUMMARY record" "" "" "0" "" "" "g.94000896A>T" "" "pathogenic (recessive)" "ACMG"
"0000127666" "1" "70" "1" "94466452" "94466452" "subst" "0" "01695" "ABCA4_000823" "g.94466452A>C" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant significantly enriched in >3000 likely Caucasian STGD1 patients compared to the non-Finnish ExAC population; another variant, giving the same predicted amino acid change, was significantly enriched in the same cohort, supporting its pathogenicity according to ACMG guidelines" "SUMMARY record" "" "" "0" "" "" "g.94000896A>C" "" "likely pathogenic (recessive)" "ACMG"
"0000127667" "1" "90" "1" "94466433" "94466434" "delins" "0" "01695" "ABCA4_000820" "g.94466433_94466434delinsA" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94000877_94000878delinsA" "" "pathogenic (recessive)" "ACMG"
"0000127668" "1" "70" "1" "94466434" "94466434" "subst" "0" "01695" "ABCA4_000821" "g.94466434C>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant significantly enriched in >3000 likely Caucasian STGD1 patients compared to the non-Finnish ExAC population" "SUMMARY record" "" "" "0" "" "" "g.94000878C>T" "" "likely pathogenic (recessive)" "ACMG"
"0000127669" "1" "90" "1" "94466426" "94466426" "subst" "1.62433E-5" "01695" "ABCA4_000124" "g.94466426G>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94000870G>A" "" "pathogenic (recessive)" "ACMG"
"0000127670" "1" "50" "1" "94466425" "94466425" "subst" "0" "01695" "ABCA4_000819" "g.94466425C>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94000869C>A" "" "VUS" "ACMG"
"0000127671" "1" "90" "1" "94466423" "94466423" "subst" "0" "01695" "ABCA4_000818" "g.94466423A>G" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94000867A>G" "" "pathogenic (recessive)" "ACMG"
"0000127672" "1" "90" "1" "94466422" "94466422" "subst" "2.43651E-5" "01695" "ABCA4_000817" "g.94466422C>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94000866C>T" "" "pathogenic (recessive)" "ACMG"
"0000127673" "1" "70" "1" "94466393" "94466393" "subst" "0" "01695" "ABCA4_000816" "g.94466393T>C" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant significantly enriched in >3000 likely Caucasian STGD1 patients compared to the non-Finnish ExAC population" "SUMMARY record" "" "" "0" "" "" "g.94000837T>C" "" "likely pathogenic (recessive)" "ACMG"
"0000127674" "1" "70" "1" "94466391" "94466391" "subst" "0" "01695" "ABCA4_000814" "g.94466391C>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94000835C>T" "" "likely pathogenic (recessive)" "ACMG"
"0000127675" "1" "90" "1" "94466391" "94466391" "subst" "0" "01695" "ABCA4_000813" "g.94466391C>G" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94000835C>G" "" "pathogenic (recessive)" "ACMG"
"0000127676" "1" "70" "1" "94466390" "94466390" "subst" "0" "01695" "ABCA4_000812" "g.94466390A>G" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "not statistically tested, classification unknown" "SUMMARY record" "" "" "0" "" "" "g.94000834A>G" "" "likely pathogenic (recessive)" "ACMG"
"0000127677" "1" "50" "1" "94466388" "94466388" "subst" "0" "01695" "ABCA4_000811" "g.94466388T>C" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "not statistically tested, classification unknown" "SUMMARY record" "" "" "0" "" "" "g.94000832T>C" "" "VUS" "ACMG"
"0000127678" "1" "50" "1" "94466392" "94466392" "subst" "0" "01695" "ABCA4_000815" "g.94466392T>C" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant significantly enriched in >3000 likely Caucasian STGD1 patients compared to the non-Finnish ExAC population" "SUMMARY record" "" "" "0" "" "" "g.94000836T>C" "" "VUS" "ACMG"
"0000127679" "1" "50" "1" "94463631" "94463631" "subst" "0" "01695" "ABCA4_000810" "g.94463631T>C" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant significantly enriched in >3000 likely Caucasian STGD1 patients compared to the non-Finnish ExAC population" "SUMMARY record" "" "" "0" "" "" "g.93998075T>C" "" "VUS" "ACMG"
"0000127680" "1" "90" "1" "94463617" "94463627" "del" "0" "01695" "ABCA4_000809" "g.94463617_94463627del" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.93998061_93998071del" "" "pathogenic (recessive)" "ACMG"
"0000127681" "1" "30" "1" "94463617" "94463617" "subst" "0.0109114" "01695" "ABCA4_000013" "g.94463617C>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.93998061C>T" "" "likely benign" "ACMG"
"0000127682" "1" "90" "1" "94463598" "94463601" "dup" "0" "01695" "ABCA4_000808" "g.94463598_94463601dup" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.93998042_93998045dup" "" "pathogenic (recessive)" "ACMG"
"0000127683" "1" "90" "1" "94463568" "94463603" "del" "0" "01695" "ABCA4_000805" "g.94463568_94463603del" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.93998012_93998047del" "" "pathogenic (recessive)" "ACMG"
"0000127684" "1" "90" "1" "94463587" "94463587" "subst" "0" "01695" "ABCA4_000136" "g.94463587G>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.93998031G>A" "" "pathogenic (recessive)" "ACMG"
"0000127685" "1" "90" "1" "94564463" "94564463" "subst" "0" "01695" "ABCA4_000381" "g.94564463T>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94098907T>A" "" "pathogenic (recessive)" "ACMG"
"0000127686" "1" "50" "1" "94463586" "94463586" "subst" "0" "01695" "ABCA4_000807" "g.94463586T>G" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant significantly enriched in >3000 likely Caucasian STGD1 patients compared to the non-Finnish ExAC population" "SUMMARY record" "" "" "0" "" "" "g.93998030T>G" "" "VUS" "ACMG"
"0000127687" "1" "90" "1" "94463583" "94463583" "subst" "8.12183E-6" "01695" "ABCA4_000806" "g.94463583A>G" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.93998027A>G" "" "pathogenic (recessive)" "ACMG"
"0000127688" "1" "50" "1" "94564462" "94564462" "subst" "4.06775E-5" "01695" "ABCA4_000380" "g.94564462C>G" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant significantly enriched in >3000 likely Caucasian STGD1 patients compared to the non-Finnish ExAC population" "SUMMARY record" "" "" "0" "" "" "g.94098906C>G" "" "VUS" "ACMG"
"0000127689" "1" "70" "1" "94564460" "94564460" "subst" "8.1355E-6" "01695" "ABCA4_000056" "g.94564460G>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant significantly enriched in >3000 likely Caucasian STGD1 patients compared to the non-Finnish ExAC population" "SUMMARY record" "" "" "0" "" "" "g.94098904G>A" "" "likely pathogenic (recessive)" "ACMG"
"0000127690" "1" "50" "1" "94586533" "94586533" "subst" "4.06237E-6" "01695" "ABCA4_000254" "g.94586533T>G" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant significantly enriched in >3000 likely Caucasian STGD1 patients compared to the non-Finnish ExAC population" "SUMMARY record" "" "" "0" "" "" "g.94120977T>G" "" "VUS" "ACMG"
"0000127691" "1" "90" "1" "94463547" "94463548" "del" "0" "01695" "ABCA4_000804" "g.94463547_94463548del" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.93997991_93997992del" "" "pathogenic (recessive)" "ACMG"
"0000127692" "1" "90" "1" "94463537" "94463537" "subst" "0" "01695" "ABCA4_000803" "g.94463537G>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.93997981G>T" "" "pathogenic (recessive)" "ACMG"
"0000127693" "1" "90" "1" "94564457" "94564457" "del" "0" "01695" "ABCA4_000379" "g.94564457del" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94098901del" "" "pathogenic (recessive)" "ACMG"
"0000127694" "1" "90" "1" "94463488" "94463488" "subst" "5.2803E-5" "01695" "ABCA4_000802" "g.94463488G>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.93997932G>A" "" "pathogenic (recessive)" "ACMG"
"0000127695" "1" "90" "1" "94564442" "94564454" "del" "0" "01695" "ABCA4_000377" "g.94564442_94564454del" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94098886_94098898del" "" "pathogenic (recessive)" "ACMG"
"0000127696" "1" "50" "1" "94463484" "94463484" "subst" "0" "01695" "ABCA4_000801" "g.94463484A>G" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.93997928A>G" "" "VUS" "ACMG"
"0000127697" "1" "30" "1" "94564451" "94564451" "subst" "0.000150413" "01695" "ABCA4_000378" "g.94564451T>G" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94098895T>G" "" "likely benign" "ACMG"
"0000127698" "1" "70" "1" "94463460" "94463460" "subst" "6.90507E-5" "01695" "ABCA4_000799" "g.94463460A>G" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.93997904A>G" "" "likely pathogenic (recessive)" "ACMG"
"0000127699" "1" "50" "1" "94463443" "94463443" "subst" "0" "01695" "ABCA4_000798" "g.94463443A>G" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant significantly enriched in >3000 likely Caucasian STGD1 patients compared to the non-Finnish ExAC population" "SUMMARY record" "" "" "0" "" "" "g.93997887A>G" "" "VUS" "ACMG"
"0000127700" "1" "90" "1" "94463435" "94463442" "del" "0" "01695" "ABCA4_000855" "g.94463435_94463442del" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.93997879_93997886del" "" "pathogenic (recessive)" "ACMG"
"0000127701" "1" "90" "1" "94463436" "94463437" "ins" "0" "01695" "ABCA4_000858" "g.94463436_94463437insC" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.93997880_93997881insC" "" "pathogenic (recessive)" "ACMG"
"0000127702" "1" "70" "1" "94463437" "94463437" "subst" "0" "01695" "ABCA4_000796" "g.94463437T>G" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant significantly enriched in >3000 likely Caucasian STGD1 patients compared to the non-Finnish ExAC population" "SUMMARY record" "" "" "0" "" "" "g.93997881T>G" "" "likely pathogenic (recessive)" "ACMG"
"0000127703" "1" "90" "1" "94463437" "94463437" "dup" "0" "01695" "ABCA4_000797" "g.94463437dup" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.93997881dup" "" "pathogenic (recessive)" "ACMG"
"0000127704" "1" "90" "1" "94463435" "94463435" "dup" "0" "01695" "ABCA4_000857" "g.94463435dup" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.93997879dup" "" "pathogenic (recessive)" "ACMG"
"0000127705" "1" "90" "1" "94463434" "94463434" "subst" "0" "01695" "ABCA4_000856" "g.94463434G>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.93997878G>A" "" "pathogenic (recessive)" "ACMG"
"0000127706" "1" "90" "1" "94463428" "94463428" "subst" "1.62621E-5" "01695" "ABCA4_000854" "g.94463428T>C" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant significantly enriched in >3000 likely Caucasian STGD1 patients compared to the non-Finnish ExAC population" "SUMMARY record" "" "" "0" "" "" "g.93997872T>C" "" "pathogenic (recessive)" "ACMG"
"0000127707" "1" "90" "1" "94564447" "94564447" "del" "0" "01695" "ABCA4_000138" "g.94564447del" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94098891del" "" "pathogenic (recessive)" "ACMG"
"0000127708" "1" "90" "1" "94564415" "94564446" "delins" "0" "01695" "ABCA4_001004" "g.94564415_94564446delinsN[6]" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "672_703delins(6bp)" "" "SUMMARY record" "" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG"
"0000127709" "1" "70" "1" "94463425" "94463425" "subst" "0.000109787" "01695" "ABCA4_000853" "g.94463425G>C" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant frequency lower in a group of >3000 likely Caucasian STGD1 patients than in the ExAC non-Finnish population" "SUMMARY record" "" "" "0" "" "" "g.93997869G>C" "" "likely pathogenic (recessive)" "ACMG"
"0000127710" "1" "90" "1" "94463416" "94463416" "subst" "0" "01695" "ABCA4_000852" "g.94463416C>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.93997860C>T" "" "pathogenic (recessive)" "ACMG"
"0000127711" "1" "70" "1" "94463399" "94463413" "del" "0" "01695" "ABCA4_000851" "g.94463399_94463413del" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant significantly enriched in >3000 likely Caucasian STGD1 patients compared to the non-Finnish ExAC population" "SUMMARY record" "" "" "0" "" "" "g.93997843_93997857del" "" "likely pathogenic (recessive)" "ACMG"
"0000127712" "1" "70" "1" "94461753" "94461761" "del" "0" "01695" "ABCA4_000850" "g.94461753_94461761del" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.93996197_93996205del" "" "likely pathogenic (recessive)" "ACMG"
"0000127713" "1" "90" "1" "94461724" "94461767" "del" "0" "01695" "ABCA4_000848" "g.94461724_94461767del" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.93996168_93996211del" "" "pathogenic (recessive)" "ACMG"
"0000127714" "1" "70" "1" "94461752" "94461752" "subst" "0" "01695" "ABCA4_000849" "g.94461752C>G" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.93996196C>G" "" "likely pathogenic (recessive)" "ACMG"
"0000127715" "1" "90" "1" "94461733" "94461733" "del" "0" "01695" "ABCA4_000135" "g.94461733del" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.93996177del" "" "pathogenic (recessive)" "ACMG"
"0000127716" "1" "50" "1" "94461724" "94461724" "subst" "0" "01695" "ABCA4_000847" "g.94461724T>C" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant significantly enriched in >3000 likely Caucasian STGD1 patients compared to the non-Finnish ExAC population" "SUMMARY record" "" "" "0" "" "" "g.93996168T>C" "" "VUS" "ACMG"
"0000127717" "1" "30" "1" "94461717" "94461717" "subst" "0.0703199" "01695" "ABCA4_000003" "g.94461717C>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.93996161C>A" "" "likely benign" "ACMG"
"0000127718" "1" "50" "1" "94461693" "94461693" "subst" "0" "01695" "ABCA4_000861" "g.94461693C>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.93996137C>A" "" "VUS" "ACMG"
"0000127719" "1" "90" "1" "94461664" "94461664" "subst" "4.06841E-6" "01695" "ABCA4_000860" "g.94461664C>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "not statistically tested, classification unknown" "SUMMARY record" "" "" "0" "" "" "g.93996108C>T" "" "pathogenic (recessive)" "ACMG"
"0000127720" "1" "50" "1" "94458799" "94458799" "subst" "4.06964E-6" "01695" "ABCA4_000859" "g.94458799C>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.93993243C>T" "" "VUS" "ACMG"
"0000127721" "1" "70" "1" "94564430" "94564430" "subst" "0" "01695" "ABCA4_000376" "g.94564430A>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94098874A>T" "" "likely pathogenic (recessive)" "ACMG"
"0000127722" "1" "90" "1" "94564418" "94564418" "subst" "0" "01695" "ABCA4_000375" "g.94564418G>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94098862G>A" "" "pathogenic (recessive)" "ACMG"
"0000127723" "1" "90" "1" "94578619" "94578619" "subst" "2.85088E-5" "01695" "ABCA4_000253" "g.94578619G>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94113063G>A" "" "pathogenic (recessive)" "ACMG"
"0000127724" "1" "90" "1" "94578618" "94578618" "subst" "0.000166918" "01695" "ABCA4_000252" "g.94578618C>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94113062C>T" "" "pathogenic (recessive)" "ACMG"
"0000127725" "1" "50" "1" "94564395" "94564395" "subst" "0" "01695" "ABCA4_000374" "g.94564395T>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "not statistically tested, classification unknown" "SUMMARY record" "" "" "0" "" "" "g.94098839T>A" "" "VUS" "ACMG"
"0000127726" "1" "90" "1" "94564389" "94564390" "del" "0" "01695" "ABCA4_000373" "g.94564389_94564390del" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94098833_94098834del" "" "pathogenic (recessive)" "ACMG"
"0000127727" "1" "90" "1" "94564387" "94564387" "subst" "4.06111E-6" "01695" "ABCA4_000372" "g.94564387A>G" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94098831A>G" "" "pathogenic (recessive)" "ACMG"
"0000127728" "1" "90" "1" "94564383" "94564383" "subst" "0" "01695" "ABCA4_000371" "g.94564383A>C" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94098827A>C" "" "pathogenic (recessive)" "ACMG"
"0000127729" "1" "50" "1" "94564382" "94564382" "subst" "0" "01695" "ABCA4_000370" "g.94564382C>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant significantly enriched in >3000 likely Caucasian STGD1 patients compared to the non-Finnish ExAC population" "SUMMARY record" "" "" "0" "" "" "g.94098826C>T" "" "VUS" "ACMG"
"0000127730" "1" "50" "1" "94564378" "94564378" "subst" "0" "01695" "ABCA4_000369" "g.94564378T>G" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94098822T>G" "" "VUS" "ACMG"
"0000127731" "1" "50" "1" "94564378" "94564378" "subst" "8.12222E-6" "01695" "ABCA4_000367" "g.94564378T>C" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94098822T>C" "" "VUS" "ACMG"
"0000127732" "1" "70" "1" "94564378" "94564378" "subst" "0" "01695" "ABCA4_000368" "g.94564378T>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94098822T>A" "" "likely pathogenic (recessive)" "ACMG"
"0000127733" "1" "90" "1" "94564321" "94564376" "del" "0" "01695" "ABCA4_000364" "g.94564321_94564376del" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94098765_94098820del" "" "pathogenic (recessive)" "ACMG"
"0000127734" "1" "70" "1" "94564372" "94564372" "subst" "0" "01695" "ABCA4_000366" "g.94564372T>C" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94098816T>C" "" "likely pathogenic (recessive)" "ACMG"
"0000127735" "1" "50" "1" "94564355" "94564355" "subst" "0.000105612" "01695" "ABCA4_000365" "g.94564355G>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant significantly enriched in >3000 likely Caucasian STGD1 patients compared to the non-Finnish ExAC population" "SUMMARY record" "" "" "0" "" "" "g.94098799G>A" "" "VUS" "ACMG"
"0000127736" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" "ACMG"
"0000127737" "1" "70" "1" "94548998" "94548998" "subst" "0" "01695" "ABCA4_000362" "g.94548998C>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94083442C>A" "" "likely pathogenic (recessive)" "ACMG"
"0000127738" "1" "70" "1" "94548999" "94548999" "subst" "0" "01695" "ABCA4_000363" "g.94548999T>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94083443T>A" "" "likely pathogenic (recessive)" "ACMG"
"0000127739" "1" "50" "1" "94548996" "94548996" "subst" "0" "01695" "ABCA4_000361" "g.94548996A>C" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94083440A>C" "" "VUS" "ACMG"
"0000127740" "1" "90" "1" "94548948" "94548948" "subst" "0" "01695" "ABCA4_000360" "g.94548948C>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94083392C>T" "" "pathogenic (recessive)" "ACMG"
"0000127741" "1" "90" "1" "94548913" "94548913" "subst" "0" "01695" "ABCA4_000359" "g.94548913G>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94083357G>A" "" "pathogenic (recessive)" "ACMG"
"0000127742" "1" "90" "1" "94548906" "94548906" "subst" "0" "01695" "ABCA4_000358" "g.94548906A>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "not statistically tested, classification unknown" "SUMMARY record" "" "" "0" "" "" "g.94083350A>T" "" "pathogenic (recessive)" "ACMG"
"0000127743" "1" "50" "1" "94548900" "94548900" "subst" "0" "01695" "ABCA4_000357" "g.94548900C>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant significantly enriched in >3000 likely Caucasian STGD1 patients compared to the non-Finnish ExAC population" "SUMMARY record" "" "" "0" "" "" "g.94083344C>A" "" "VUS" "ACMG"
"0000127744" "1" "90" "1" "94546181" "94546319" "delins" "0" "01695" "ABCA4_000349" "g.94546181_94546319delinsGGTCAGA" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "not statistically tested, classification unknown" "SUMMARY record" "" "" "0" "" "" "g.94080625_94080763delinsGGTCAGA" "" "pathogenic (recessive)" "ACMG"
"0000127745" "1" "90" "1" "94546283" "94546283" "subst" "8.18311E-5" "01695" "ABCA4_000356" "g.94546283A>G" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94080727A>G" "" "pathogenic (recessive)" "ACMG"
"0000127746" "1" "70" "1" "94546265" "94546265" "subst" "2.04063E-5" "01695" "ABCA4_000355" "g.94546265G>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant significantly enriched in >3000 likely Caucasian STGD1 patients compared to the non-Finnish ExAC population" "SUMMARY record" "" "" "0" "" "" "g.94080709G>A" "" "likely pathogenic (recessive)" "ACMG"
"0000127747" "1" "70" "1" "94546262" "94546262" "subst" "0" "01695" "ABCA4_000354" "g.94546262G>C" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94080706G>C" "" "likely pathogenic (recessive)" "ACMG"
"0000127748" "1" "70" "1" "94546261" "94546261" "subst" "0.000648567" "01695" "ABCA4_000353" "g.94546261G>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94080705G>A" "" "likely pathogenic (recessive)" "ACMG"
"0000127749" "1" "90" "1" "94546248" "94546248" "del" "2.03666E-5" "01695" "ABCA4_000352" "g.94546248del" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94080692del" "" "pathogenic (recessive)" "ACMG"
"0000127750" "1" "90" "1" "94546244" "94546244" "del" "0" "01695" "ABCA4_000059" "g.94546244del" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94080688del" "" "pathogenic (recessive)" "ACMG"
"0000127751" "1" "50" "1" "94546234" "94546234" "subst" "0" "01695" "ABCA4_000351" "g.94546234G>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "variant significantly enriched in >3000 likely Caucasian STGD1 patients compared to the non-Finnish ExAC population" "SUMMARY record" "" "" "0" "" "" "g.94080678G>T" "" "VUS" "ACMG"
"0000127752" "1" "90" "1" "94546220" "94546220" "subst" "0" "01695" "ABCA4_000060" "g.94546220G>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94080664G>A" "" "pathogenic (recessive)" "ACMG"
"0000127753" "1" "70" "1" "94578598" "94578598" "subst" "0" "01695" "ABCA4_000251" "g.94578598A>G" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94113042A>G" "" "likely pathogenic (recessive)" "ACMG"
"0000127754" "1" "70" "1" "94546207" "94546207" "subst" "0.000101665" "01695" "ABCA4_000083" "g.94546207G>C" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94080651G>C" "" "likely pathogenic (recessive)" "ACMG"
"0000127755" "1" "90" "1" "94578596" "94578596" "subst" "4.06478E-6" "01695" "ABCA4_000250" "g.94578596C>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94113040C>T" "" "pathogenic (recessive)" "ACMG"
"0000127756" "1" "90" "1" "94546185" "94546185" "del" "0" "01695" "ABCA4_000350" "g.94546185del" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94080629del" "" "pathogenic (recessive)" "ACMG"
"0000127757" "1" "90" "1" "94546167" "94546167" "del" "0" "01695" "ABCA4_000348" "g.94546167del" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94080611del" "" "pathogenic (recessive)" "ACMG"
"0000127758" "1" "90" "1" "94546151" "94546151" "subst" "4.06855E-6" "01695" "ABCA4_000347" "g.94546151C>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94080595C>A" "" "pathogenic (recessive)" "ACMG"
"0000127759" "1" "90" "1" "94546150" "94546150" "subst" "4.06828E-6" "01695" "ABCA4_000346" "g.94546150T>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94080594T>A" "" "pathogenic (recessive)" "ACMG"
"0000127760" "1" "50" "1" "94546136" "94546136" "subst" "1.22031E-5" "01695" "ABCA4_000345" "g.94546136G>A" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94080580G>A" "" "VUS" "ACMG"
"0000127761" "1" "50" "1" "94546135" "94546135" "subst" "0.000109834" "01695" "ABCA4_000344" "g.94546135C>T" "" "{PMID:Cornelis 2017:28044389}, {DOI:Cornelis 2017:10.1002/humu.23165}, {DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.94080579C>T" "" "VUS" "ACMG"
"0000129955" "0" "77" "1" "94528248" "94528248" "subst" "1.22148E-5" "01763" "ABCA4_000279" "g.94528248A>T" "" "" "" "" "" "Germline" "" "rs61752398" "0" "" "" "g.94062692A>T" "" "likely pathogenic" ""
"0000129956" "0" "79" "1" "94476951" "94476951" "subst" "0.000236097" "01763" "ABCA4_000025" "g.94476951A>G" "" "{CV:RCV000008366.3}" "" "" "" "Germline" "" "rs1800728" "0" "" "" "g.94011395A>G" "" "likely pathogenic" ""
"0000129957" "0" "70" "1" "94528248" "94528248" "subst" "1.22148E-5" "01763" "ABCA4_000279" "g.94528248A>T" "" "" "" "" "" "Germline" "-" "rs61752398" "0" "" "" "g.94062692A>T" "" "likely pathogenic" ""
"0000129958" "0" "70" "1" "94484001" "94484001" "subst" "0" "01763" "ABCA4_000016" "g.94484001C>T" "" "" "" "" "" "Germline" "" "rs778234759" "0" "" "" "g.94018445C>T" "" "likely pathogenic" ""
"0000129959" "0" "95" "1" "94508969" "94508969" "subst" "0.00168642" "01763" "ABCA4_000021" "g.94508969G>A" "" "{CV:RCV000008348.3}, {CV:RCV000008350.2}" "" "" "" "Germline" "" "rs61751374" "0" "" "" "g.94043413G>A" "" "pathogenic" ""
"0000129960" "0" "90" "1" "94493000" "94493000" "subst" "0" "01763" "ABCA4_000015" "g.94493000C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.94027444C>T" "" "pathogenic" ""
"0000129961" "0" "99" "1" "94476951" "94476951" "subst" "0.000236097" "01763" "ABCA4_000025" "g.94476951A>G" "" "{CV:RCV000008366.3}, {CV:RCV000078669.4}" "" "" "" "Germline" "" "rs1800728" "0" "" "" "g.94011395A>G" "" "pathogenic" ""
"0000129962" "0" "97" "1" "94473807" "94473807" "subst" "0.00480453" "01763" "ABCA4_000046" "g.94473807C>T" "" "{CV:RCV000078670.4}, {CV:RCV000008341.3}, {CV:RCV000008339.2}, {CV:RCV000008340.8}" "" "" "" "Germline" "" "rs1800553" "0" "" "" "g.94008251C>T" "" "pathogenic" ""
"0000129963" "0" "75" "1" "94476812" "94476812" "subst" "0" "01763" "ABCA4_000048" "g.94476812A>G" "" "" "" "" "" "Germline" "" "rs61750633" "0" "" "" "g.94011256A>G" "" "likely pathogenic" ""
"0000129964" "0" "90" "1" "94493000" "94493000" "subst" "0" "01763" "ABCA4_000015" "g.94493000C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.94027444C>T" "" "pathogenic" ""
"0000129965" "1" "99" "1" "94473278" "94473278" "del" "3.25908E-5" "01763" "ABCA4_000392" "g.94473278del" "" "" "" "" "" "Germline" "yes" "rs61751389" "0" "" "" "g.94007722del" "" "pathogenic" ""
"0000129966" "2" "97" "1" "94473807" "94473807" "subst" "0.00480453" "01763" "ABCA4_000046" "g.94473807C>T" "" "{CV:RCV000008340.8}, {CV:RCV000008339.2}, {CV:RCV000008341.3}, {CV:RCV000078670.4}" "" "" "" "Germline" "yes" "rs1800553" "0" "" "" "g.94008251C>T" "" "pathogenic" ""
"0000129967" "0" "95" "1" "94564484" "94564484" "subst" "0.000110199" "01763" "ABCA4_000036" "g.94564484G>A" "" "{CV:RCV000179293.1}, {CV:RCV000008355.4}" "" "" "" "Germline" "" "rs61750200" "0" "" "" "g.94098928G>A" "" "pathogenic" ""
"0000129968" "0" "99" "1" "94493000" "94493000" "subst" "0" "01763" "ABCA4_000015" "g.94493000C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.94027444C>T" "" "pathogenic" ""
"0000129970" "0" "99" "1" "94564350" "94564350" "subst" "9.34268E-5" "01763" "ABCA4_000045" "g.94564350C>A" "" "" "" "" "" "Germline" "" "rs62645944" "0" "" "" "g.94098794C>A" "" "pathogenic" ""
"0000129971" "0" "99" "1" "94495009" "94495009" "dup" "0" "01763" "ABCA4_000087" "g.94495009dup" "" "{CV:RCV000210298.1}" "" "" "" "Germline" "" "rs281865377" "0" "" "" "g.94029453dup" "" "pathogenic" ""
"0000148384" "2" "70" "1" "94510253" "94510253" "subst" "0.000247694" "00717" "ABCA4_000108" "g.94510253A>G" "" "{PMID:Lee 2017:28327576}, {DOI:Lee 2017:10.1038/ejhg.2017.13}" "" "" "" "Germline" "" "" "0" "" "" "g.94044697A>G" "" "likely pathogenic (recessive)" ""
"0000148385" "1" "99" "1" "94473278" "94473278" "del" "3.25908E-5" "00717" "ABCA4_000392" "g.94473278del" "" "{PMID:Lee 2017:28327576}, {DOI:Lee 2017:10.1038/ejhg.2017.13}" "" "" "" "Germline" "" "" "0" "" "" "g.94007722del" "" "pathogenic (recessive)" ""
"0000148386" "1" "75" "1" "94543268" "94543268" "subst" "0.000778106" "00717" "ABCA4_000306" "g.94543268C>T" "" "{PMID:Lee 2017:28327576}, {DOI:Lee 2017:10.1038/ejhg.2017.13}" "" "" "" "Germline" "" "" "0" "" "" "g.94077712C>T" "" "likely pathogenic (recessive)" ""
"0000148387" "1" "90" "1" "94490567" "94490567" "subst" "5.68528E-5" "00717" "ABCA4_000026" "g.94490567G>A" "" "{PMID:Lee 2017:28327576}, {DOI:Lee 2017:10.1038/ejhg.2017.13}" "" "" "" "Germline" "" "" "0" "" "" "g.94025011G>A" "" "pathogenic (recessive)" ""
"0000148388" "2" "50" "1" "94527129" "94527143" "del" "0" "00717" "ABCA4_001034" "g.94527129_94527143del" "" "{PMID:Lee 2017:28327576}, {DOI:Lee 2017:10.1038/ejhg.2017.13}" "" "" "" "Germline" "" "" "0" "" "" "g.94061573_94061587del" "" "VUS" ""
"0000148389" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "00717" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Lee 2017:28327576}, {DOI:Lee 2017:10.1038/ejhg.2017.13}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000148390" "1" "70" "1" "94463399" "94463413" "del" "0" "00717" "ABCA4_000851" "g.94463399_94463413del" "" "{PMID:Lee 2017:28327576}, {DOI:Lee 2017:10.1038/ejhg.2017.13}" "" "" "" "Germline" "" "" "0" "" "" "g.93997843_93997857del" "" "likely pathogenic (recessive)" ""
"0000148391" "3" "90" "1" "94578596" "94578596" "subst" "4.06478E-6" "00717" "ABCA4_000250" "g.94578596C>T" "" "{PMID:Lee 2017:28327576}, {DOI:Lee 2017:10.1038/ejhg.2017.13}" "" "" "" "Germline" "" "" "0" "" "" "g.94113040C>T" "" "pathogenic (recessive)" ""
"0000148392" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "00717" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Lee 2017:28327576}, {DOI:Lee 2017:10.1038/ejhg.2017.13}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000148393" "1" "70" "1" "94463399" "94463413" "del" "0" "00717" "ABCA4_000851" "g.94463399_94463413del" "" "{PMID:Lee 2017:28327576}, {DOI:Lee 2017:10.1038/ejhg.2017.13}" "" "" "" "Germline" "" "" "0" "" "" "g.93997843_93997857del" "" "likely pathogenic (recessive)" ""
"0000148394" "1" "90" "1" "94586536" "94586536" "subst" "0" "00717" "ABCA4_000871" "g.94586536C>T" "" "{PMID:Lee 2017:28327576}, {DOI:Lee 2017:10.1038/ejhg.2017.13}" "" "" "" "Germline" "" "" "0" "" "" "g.94120980C>T" "" "pathogenic (recessive)" ""
"0000148395" "2" "90" "1" "94463488" "94463488" "subst" "5.2803E-5" "00717" "ABCA4_000802" "g.94463488G>A" "" "{PMID:Lee 2017:28327576}, {DOI:Lee 2017:10.1038/ejhg.2017.13}" "" "" "" "Germline" "" "" "0" "" "" "g.93997932G>A" "" "pathogenic (recessive)" ""
"0000148396" "2" "70" "1" "94506880" "94506880" "subst" "0" "00717" "ABCA4_000865" "g.94506880C>A" "" "{PMID:Lee 2017:28327576}, {DOI:Lee 2017:10.1038/ejhg.2017.13}" "" "" "" "Germline" "" "" "0" "" "" "g.94041324C>A" "" "likely pathogenic (recessive)" ""
"0000148397" "1" "90" "1" "94473807" "94473807" "subst" "0.00480453" "00717" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Lee 2017:28327576}, {DOI:Lee 2017:10.1038/ejhg.2017.13}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000148398" "2" "70" "1" "94528162" "94528162" "subst" "0" "00717" "ABCA4_000266" "g.94528162C>A" "" "{PMID:Lee 2017:28327576}, {DOI:Lee 2017:10.1038/ejhg.2017.13}" "" "" "" "Germline" "" "" "0" "" "" "g.94062606C>A" "" "likely pathogenic (recessive)" ""
"0000148399" "1" "90" "1" "94473807" "94473807" "subst" "0.00480453" "00717" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Lee 2017:28327576}, {DOI:Lee 2017:10.1038/ejhg.2017.13}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000148400" "3" "70" "1" "94467505" "94467505" "subst" "4.06128E-6" "00717" "ABCA4_000868" "g.94467505G>A" "" "{PMID:Lee 2017:28327576}, {DOI:Lee 2017:10.1038/ejhg.2017.13}" "" "" "" "Germline" "" "" "0" "" "" "g.94001949G>A" "" "likely pathogenic (recessive)" ""
"0000148401" "2" "70" "1" "94528251" "94528251" "subst" "0" "00717" "ABCA4_000283" "g.94528251C>A" "" "{PMID:Lee 2017:28327576}, {DOI:Lee 2017:10.1038/ejhg.2017.13}" "" "" "" "Germline" "" "" "0" "" "" "g.94062695C>A" "" "likely pathogenic (recessive)" ""
"0000148402" "1" "90" "1" "94473807" "94473807" "subst" "0.00480453" "00717" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Lee 2017:28327576}, {DOI:Lee 2017:10.1038/ejhg.2017.13}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000148403" "2" "90" "1" "94564484" "94564484" "subst" "0.000110199" "00717" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Lee 2017:28327576}, {DOI:Lee 2017:10.1038/ejhg.2017.13}" "" "" "" "Germline" "" "" "0" "" "" "g.94098928G>A" "" "pathogenic (recessive)" ""
"0000148404" "1" "90" "1" "94473807" "94473807" "subst" "0.00480453" "00717" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Lee 2017:28327576}, {DOI:Lee 2017:10.1038/ejhg.2017.13}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000148405" "2" "70" "1" "94526296" "94526296" "subst" "1.64555E-5" "00717" "ABCA4_000768" "g.94526296G>A" "" "{PMID:Lee 2017:28327576}, {DOI:Lee 2017:10.1038/ejhg.2017.13}" "" "" "" "Germline" "" "" "0" "" "" "g.94060740G>A" "" "likely pathogenic (recessive)" ""
"0000148406" "1" "90" "1" "94473807" "94473807" "subst" "0.00480453" "00717" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Lee 2017:28327576}, {DOI:Lee 2017:10.1038/ejhg.2017.13}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000148408" "3" "50" "1" "94546283" "94546283" "subst" "8.18311E-5" "00717" "ABCA4_000356" "g.94546283A>G" "" "{PMID:Lee 2017:28327576}, {DOI:Lee 2017:10.1038/ejhg.2017.13}" "" "" "" "Germline" "" "" "0" "" "" "g.94080727A>G" "" "VUS" ""
"0000148409" "3" "50" "1" "94546283" "94546283" "subst" "8.18311E-5" "00717" "ABCA4_000356" "g.94546283A>G" "" "{PMID:Lee 2017:28327576}, {DOI:Lee 2017:10.1038/ejhg.2017.13}" "" "" "" "Germline" "" "" "0" "" "" "g.94080727A>G" "" "VUS" ""
"0000148410" "3" "90" "1" "94512499" "94512499" "subst" "0.000130029" "00717" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Lee 2017:28327576}, {DOI:Lee 2017:10.1038/ejhg.2017.13}" "" "" "" "Germline" "" "" "0" "" "" "g.94046943T>C" "" "pathogenic (recessive)" ""
"0000148411" "1" "90" "1" "94473807" "94473807" "subst" "0.00480453" "00717" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Lee 2017:28327576}, {DOI:Lee 2017:10.1038/ejhg.2017.13}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000148412" "2" "90" "1" "94480241" "94480241" "subst" "7.71705E-5" "00717" "ABCA4_000446" "g.94480241G>A" "" "{PMID:Lee 2017:28327576}, {DOI:Lee 2017:10.1038/ejhg.2017.13}" "" "" "" "Germline" "" "" "0" "" "" "g.94014685G>A" "" "pathogenic (recessive)" ""
"0000148413" "2" "70" "1" "94526230" "94526230" "subst" "7.32136E-5" "00717" "ABCA4_000760" "g.94526230C>T" "" "{PMID:Lee 2017:28327576}, {DOI:Lee 2017:10.1038/ejhg.2017.13}" "" "" "" "Germline" "" "" "0" "" "" "g.94060674C>T" "" "likely pathogenic (recessive)" ""
"0000148414" "1" "70" "1" "94476424" "94476424" "subst" "2.43694E-5" "00717" "ABCA4_000418" "g.94476424C>T" "" "{PMID:Lee 2017:28327576}, {DOI:Lee 2017:10.1038/ejhg.2017.13}" "" "" "" "Germline" "" "" "0" "" "" "g.94010868C>T" "" "likely pathogenic (recessive)" ""
"0000148415" "1" "90" "1" "94473807" "94473807" "subst" "0.00480453" "00717" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Lee 2017:28327576}, {DOI:Lee 2017:10.1038/ejhg.2017.13}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000148417" "2" "90" "1" "94564545" "94564551" "del" "0" "00717" "ABCA4_000866" "g.94564545_94564551del" "" "{PMID:Lee 2017:28327576}, {DOI:Lee 2017:10.1038/ejhg.2017.13}" "" "" "" "Germline" "" "" "0" "" "" "g.94098989_94098995del" "" "pathogenic (recessive)" ""
"0000148418" "1" "90" "1" "94480243" "94480248" "del" "0" "00717" "ABCA4_000863" "g.94480243_94480248del" "" "{PMID:Lee 2017:28327576}, {DOI:Lee 2017:10.1038/ejhg.2017.13}" "" "" "" "Germline" "" "" "0" "" "" "g.94014687_94014692del" "" "pathogenic (recessive)" ""
"0000148419" "1" "70" "1" "94463452" "94463452" "subst" "9.34412E-5" "00717" "ABCA4_000870" "g.94463452C>T" "" "{PMID:Lee 2017:28327576}, {DOI:Lee 2017:10.1038/ejhg.2017.13}" "" "" "" "Germline" "" "" "0" "" "" "g.93997896C>T" "" "likely pathogenic (recessive)" ""
"0000148420" "1" "90" "1" "94473807" "94473807" "subst" "0.00480453" "00717" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Lee 2017:28327576}, {DOI:Lee 2017:10.1038/ejhg.2017.13}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000148422" "2" "70" "1" "94481364" "94481364" "subst" "0" "00717" "ABCA4_000864" "g.94481364C>T" "" "{PMID:Lee 2017:28327576}, {DOI:Lee 2017:10.1038/ejhg.2017.13}" "" "" "" "Germline" "" "" "0" "" "" "g.94015808C>T" "" "likely pathogenic (recessive)" ""
"0000148423" "1" "70" "1" "94466627" "94466627" "subst" "4.06408E-6" "00717" "ABCA4_000867" "g.94466627C>T" "" "{PMID:Lee 2017:28327576}, {DOI:Lee 2017:10.1038/ejhg.2017.13}" "" "" "" "Germline" "" "" "0" "" "" "g.94001071C>T" "" "likely pathogenic (recessive)" ""
"0000148424" "3" "90" "1" "94473807" "94473807" "subst" "0.00480453" "00717" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Lee 2017:28327576}, {DOI:Lee 2017:10.1038/ejhg.2017.13}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000148426" "1" "70" "1" "94471046" "94471046" "subst" "0" "00717" "ABCA4_000869" "g.94471046A>T" "" "{PMID:Lee 2017:28327576}, {DOI:Lee 2017:10.1038/ejhg.2017.13}" "" "" "" "Germline" "" "" "0" "" "" "g.94005490A>T" "" "likely pathogenic (recessive)" ""
"0000148427" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "00717" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Lee 2017:28327576}, {DOI:Lee 2017:10.1038/ejhg.2017.13}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000148428" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "00717" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Lee 2017:28327576}, {DOI:Lee 2017:10.1038/ejhg.2017.13}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000148429" "1" "90" "1" "94466391" "94466391" "subst" "0" "00717" "ABCA4_000814" "g.94466391C>T" "" "{PMID:Lee 2017:28327576}, {DOI:Lee 2017:10.1038/ejhg.2017.13}" "" "" "" "Germline" "" "" "0" "" "" "g.94000835C>T" "" "pathogenic (recessive)" ""
"0000148430" "3" "70" "1" "94577117" "94577117" "subst" "1.62472E-5" "00717" "ABCA4_000237" "g.94577117G>A" "" "{PMID:Lee 2017:28327576}, {DOI:Lee 2017:10.1038/ejhg.2017.13}" "" "" "" "Germline" "" "" "0" "" "" "g.94111561G>A" "" "likely pathogenic (recessive)" ""
"0000148431" "3" "70" "1" "94578598" "94578598" "subst" "0" "00717" "ABCA4_000251" "g.94578598A>G" "" "{PMID:Lee 2017:28327576}, {DOI:Lee 2017:10.1038/ejhg.2017.13}" "" "" "" "Germline" "" "" "0" "" "" "g.94113042A>G" "" "likely pathogenic (recessive)" ""
"0000148432" "2" "90" "1" "94526258" "94526258" "subst" "4.07183E-6" "00717" "ABCA4_000762" "g.94526258G>T" "" "{PMID:Lee 2017:28327576}, {DOI:Lee 2017:10.1038/ejhg.2017.13}" "" "" "" "Germline" "" "" "0" "" "" "g.94060702G>T" "" "pathogenic (recessive)" ""
"0000148433" "1" "70" "1" "94510253" "94510253" "subst" "0.000247694" "00717" "ABCA4_000108" "g.94510253A>G" "" "{PMID:Lee 2017:28327576}, {DOI:Lee 2017:10.1038/ejhg.2017.13}" "" "" "" "Germline" "" "" "0" "" "" "g.94044697A>G" "" "likely pathogenic (recessive)" ""
"0000148434" "2" "90" "1" "94526258" "94526258" "subst" "4.07183E-6" "00717" "ABCA4_000762" "g.94526258G>T" "" "{PMID:Lee 2017:28327576}, {DOI:Lee 2017:10.1038/ejhg.2017.13}" "" "" "" "Germline" "" "" "0" "" "" "g.94060702G>T" "" "pathogenic (recessive)" ""
"0000148435" "1" "70" "1" "94510253" "94510253" "subst" "0.000247694" "00717" "ABCA4_000108" "g.94510253A>G" "" "{PMID:Lee 2017:28327576}, {DOI:Lee 2017:10.1038/ejhg.2017.13}" "" "" "" "Germline" "" "" "0" "" "" "g.94044697A>G" "" "likely pathogenic (recessive)" ""
"0000169040" "3" "90" "1" "94463399" "94463413" "del" "0" "00006" "ABCA4_000851" "g.94463399_94463413del" "" "{PMID:Eldomery 2017:28327206}, {DOI:Eldomery 2017:10.1186/s13073-017-0412-6}" "" "1:94463397_GTGCCCCAGGGCCAAC>G" "" "Germline" "" "" "0" "" "" "g.93997843_93997857del" "" "pathogenic" ""
"0000170881" "11" "75" "1" "94506901" "94506901" "subst" "0.000308665" "01244" "ABCA4_000054" "g.94506901C>A" "" "{PMID:de Castro-Miró 2016:28005958}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94041345C>A" "" "likely pathogenic" "ACMG"
"0000170882" "21" "50" "1" "94492937" "94492937" "subst" "0" "01244" "ABCA4_000529" "g.94492937G>A" "" "{PMID:de Castro-Miró 2016:28005958}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94027381G>A" "" "VUS" "ACMG"
"0000171134" "0" "70" "1" "94497474" "94497474" "subst" "0" "01244" "ABCA4_000583" "g.94497474C>A" "" "{PMID:de Castro-Miró 2014:24516651}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94031918C>A" "" "likely pathogenic" ""
"0000171135" "21" "70" "1" "94466461" "94466461" "subst" "0" "01244" "ABCA4_000825" "g.94466461C>T" "" "{PMID:de Castro-Miró 2014:24516651}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94000905C>T" "" "likely pathogenic" ""
"0000238524" "3" "50" "1" "94487200" "94487200" "del" "0" "02348" "ABCA4_000873" "g.94487200del" "" "" "" "4845delT" "" "Germline" "yes" "" "0" "" "" "g.94021644del" "" "VUS" ""
"0000245400" "0" "10" "1" "94546104" "94546104" "subst" "0.00103684" "02330" "ABCA4_000941" "g.94546104A>G" "" "" "" "ABCA4(NM_000350.2):c.1029T>C (p.N343=), ABCA4(NM_000350.3):c.1029T>C (p.N343=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94080548A>G" "" "benign" ""
"0000245407" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "02330" "ABCA4_000025" "g.94476951A>G" "" "" "" "ABCA4(NM_000350.2):c.5461-10T>C, ABCA4(NM_000350.3):c.5461-10T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic" ""
"0000245464" "0" "10" "1" "94522327" "94522327" "subst" "0" "02330" "ABCA4_000930" "g.94522327A>G" "" "" "" "ABCA4(NM_000350.3):c.2212T>C (p.L738=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94056771A>G" "" "benign" ""
"0000245525" "0" "10" "1" "94490493" "94490493" "subst" "0" "02330" "ABCA4_000899" "g.94490493A>C" "" "" "" "ABCA4(NM_000350.3):c.4634+17T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94024937A>C" "" "benign" ""
"0000245531" "0" "30" "1" "94505604" "94505604" "subst" "0.00645586" "02330" "ABCA4_000092" "g.94505604A>C" "" "" "" "ABCA4(NM_000350.3):c.3602T>G (p.L1201R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94040048A>C" "" "likely benign" ""
"0000245577" "0" "50" "1" "94471747" "94471747" "subst" "0" "02330" "ABCA4_000882" "g.94471747A>T" "" "" "" "ABCA4(NM_000350.3):c.6006-609T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94006191A>T" "" "VUS" ""
"0000245595" "0" "50" "1" "94528238" "94528238" "subst" "4.06769E-6" "02330" "ABCA4_000277" "g.94528238A>G" "" "" "" "ABCA4(NM_000350.3):c.1832T>C (p.L611P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94062682A>G" "" "VUS" ""
"0000245596" "0" "50" "1" "94496080" "94496080" "subst" "0.000982813" "02330" "ABCA4_000558" "g.94496080A>G" "" "" "" "ABCA4(NM_000350.3):c.4256T>C (p.M1419T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94030524A>G" "" "VUS" ""
"0000245604" "0" "50" "1" "94528142" "94528142" "subst" "0.00153303" "02330" "ABCA4_000125" "g.94528142A>C" "" "" "" "ABCA4(NM_000350.2):c.1928T>G (p.V643G), ABCA4(NM_000350.3):c.1928T>G (p.V643G, p.(Val643Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94062586A>C" "" "VUS" ""
"0000247937" "0" "10" "1" "94471075" "94471075" "subst" "0.899539" "02325" "ABCA4_000880" "g.94471075A>G" "" "" "" "ABCA4(NM_000350.2):c.6069T>C (p.I2023=), ABCA4(NM_000350.3):c.6069T>C (p.I2023=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94005519A>G" "" "benign" ""
"0000253198" "0" "10" "1" "94471075" "94471075" "subst" "0.899539" "01943" "ABCA4_000880" "g.94471075A>G" "" "" "" "ABCA4(NM_000350.2):c.6069T>C (p.I2023=), ABCA4(NM_000350.3):c.6069T>C (p.I2023=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94005519A>G" "" "benign" ""
"0000253745" "0" "10" "1" "94507080" "94507080" "del" "0" "01943" "ABCA4_000923" "g.94507080del" "" "" "" "ABCA4(NM_000350.2):c.3329-112delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94041524del" "" "benign" ""
"0000254125" "0" "30" "1" "94546104" "94546104" "subst" "0.00103684" "01943" "ABCA4_000941" "g.94546104A>G" "" "" "" "ABCA4(NM_000350.2):c.1029T>C (p.N343=), ABCA4(NM_000350.3):c.1029T>C (p.N343=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94080548A>G" "" "likely benign" ""
"0000255191" "0" "30" "1" "94495191" "94495191" "subst" "0.000428195" "01943" "ABCA4_000910" "g.94495191A>G" "" "" "" "ABCA4(NM_000350.2):c.4353-4T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94029635A>G" "" "likely benign" ""
"0000255360" "0" "70" "1" "94490570" "94490570" "subst" "0" "01943" "ABCA4_000525" "g.94490570A>G" "" "" "" "ABCA4(NM_000350.2):c.4574T>C (p.L1525P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94025014A>G" "" "likely pathogenic" ""
"0000255414" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01943" "ABCA4_000025" "g.94476951A>G" "" "" "" "ABCA4(NM_000350.2):c.5461-10T>C, ABCA4(NM_000350.3):c.5461-10T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic" ""
"0000255516" "0" "90" "1" "94568671" "94568671" "subst" "0" "01943" "ABCA4_000947" "g.94568671A>T" "" "" "" "ABCA4(NM_000350.2):c.470T>A (p.L157*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94103115A>T" "" "pathogenic" ""
"0000256263" "0" "50" "1" "94528806" "94528806" "subst" "0.000150298" "01943" "ABCA4_000020" "g.94528806A>G" "" "" "" "ABCA4(NM_000350.2):c.1622T>C (p.L541P), ABCA4(NM_000350.3):c.1622T>C (p.L541P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94063250A>G" "" "VUS" ""
"0000256906" "0" "10" "1" "94458783" "94458783" "subst" "0.00174189" "02330" "ABCA4_000874" "g.94458783G>T" "" "" "" "ABCA4(NM_000350.3):c.*10C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93993227G>T" "" "benign" ""
"0000256907" "0" "50" "1" "94544235" "94544235" "subst" "0.0001137" "02330" "ABCA4_000939" "g.94544235G>A" "" "" "" "ABCA4(NM_000350.3):c.1267C>T (p.H423Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94078679G>A" "" "VUS" ""
"0000256908" "0" "50" "1" "94543277" "94543277" "subst" "1.62787E-5" "02330" "ABCA4_000934" "g.94543277C>T" "" "" "" "ABCA4(NM_000350.3):c.1523G>A (p.R508H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94077721C>T" "" "VUS" ""
"0000256909" "0" "10" "1" "94528814" "94528814" "subst" "0.000406237" "02330" "ABCA4_000933" "g.94528814G>A" "" "" "" "ABCA4(NM_000350.3):c.1614C>T (p.A538=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94063258G>A" "" "benign" ""
"0000256910" "0" "30" "1" "94528138" "94528138" "subst" "0.000833801" "02330" "ABCA4_000932" "g.94528138G>A" "" "" "" "ABCA4(NM_000350.2):c.1932C>T (p.D644=), ABCA4(NM_000350.3):c.1932C>T (p.D644=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94062582G>A" "" "likely benign" ""
"0000256911" "0" "90" "1" "94526934" "94526934" "subst" "0" "02330" "ABCA4_000771" "g.94526934T>C" "" "" "" "ABCA4(NM_000350.3):c.1938-619A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94061378T>C" "" "pathogenic" ""
"0000256912" "0" "10" "1" "94526198" "94526198" "subst" "1.21964E-5" "02330" "ABCA4_000931" "g.94526198G>A" "" "" "" "ABCA4(NM_000350.3):c.2055C>T (p.T685=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94060642G>A" "" "benign" ""
"0000256913" "0" "90" "1" "94525509" "94525509" "subst" "0" "02330" "ABCA4_000747" "g.94525509T>C" "" "" "" "ABCA4(NM_000350.3):c.2160+584A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94059953T>C" "" "pathogenic" ""
"0000256914" "0" "10" "1" "94512565" "94512565" "subst" "0.030364" "02330" "ABCA4_000002" "g.94512565C>T" "" "" "" "ABCA4(NM_000350.3):c.2828G>A (p.R943Q, p.(Arg943Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94047009C>T" "" "benign" ""
"0000256915" "0" "90" "1" "94512565" "94512565" "del" "0" "02330" "ABCA4_000692" "g.94512565del" "" "" "" "ABCA4(NM_000350.3):c.2829delG (p.P944Qfs*6)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94047009del" "" "pathogenic" ""
"0000256916" "0" "90" "1" "94576926" "94576926" "subst" "0" "02330" "ABCA4_000219" "g.94576926G>A" "" "" "" "ABCA4(NM_000350.3):c.302+68C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94111370G>A" "" "pathogenic" ""
"0000256917" "0" "90" "1" "94509799" "94509799" "subst" "0" "02330" "ABCA4_000925" "g.94509799G>A" "" "" "" "ABCA4(NM_000350.3):c.3050+370C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94044243G>A" "" "pathogenic" ""
"0000256918" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "02330" "ABCA4_000031" "g.94508323G>A" "" "" "" "ABCA4(NM_000350.3):c.3322C>T (p.R1108C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic" ""
"0000256919" "0" "10" "1" "94506924" "94506924" "subst" "9.34063E-5" "02330" "ABCA4_000922" "g.94506924G>A" "" "" "" "ABCA4(NM_000350.3):c.3363C>T (p.D1121=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94041368G>A" "" "benign" ""
"0000256920" "0" "50" "1" "94502906" "94502906" "subst" "0.000314086" "02330" "ABCA4_000605" "g.94502906C>T" "" "" "" "ABCA4(NM_000350.3):c.3608G>A (p.G1203E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94037350C>T" "" "VUS" ""
"0000256921" "0" "10" "1" "94502327" "94502327" "subst" "0.00175849" "02330" "ABCA4_000918" "g.94502327C>T" "" "" "" "ABCA4(NM_000350.3):c.3831G>A (p.T1277=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94036771C>T" "" "benign" ""
"0000256922" "0" "10" "1" "94497562" "94497562" "subst" "0" "02330" "ABCA4_000917" "g.94497562T>C" "" "" "" "ABCA4(NM_000350.3):c.3900A>G (p.R1300=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94032006T>C" "" "benign" ""
"0000256923" "0" "10" "1" "94497499" "94497499" "subst" "0" "02330" "ABCA4_000916" "g.94497499G>A" "" "" "" "ABCA4(NM_000350.3):c.3963C>T (p.S1321=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94031943G>A" "" "benign" ""
"0000256924" "0" "10" "1" "94497412" "94497412" "subst" "0.00112076" "02330" "ABCA4_000915" "g.94497412C>G" "" "" "" "ABCA4(NM_000350.2):c.4050G>C (p.L1350=), ABCA4(NM_000350.3):c.4050G>C (p.L1350=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94031856C>G" "" "benign" ""
"0000256925" "0" "10" "1" "94497337" "94497337" "subst" "9.42662E-5" "02330" "ABCA4_000914" "g.94497337C>T" "" "" "" "ABCA4(NM_000350.3):c.4125G>A (p.A1375=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94031781C>T" "" "benign" ""
"0000256926" "0" "10" "1" "94496602" "94496602" "subst" "0.000987227" "02330" "ABCA4_000912" "g.94496602G>A" "" "" "" "ABCA4(NM_000350.3):c.4203C>T (p.P1401=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94031046G>A" "" "benign" ""
"0000256927" "0" "50" "1" "94496039" "94496039" "subst" "0.00157963" "02330" "ABCA4_000552" "g.94496039C>T" "" "" "" "ABCA4(NM_000350.2):c.4297G>A (p.V1433I), ABCA4(NM_000350.3):c.4297G>A (p.V1433I, p.(Val1433Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94030483C>T" "" "VUS" ""
"0000256928" "0" "10" "1" "94495970" "94495970" "subst" "0.000804486" "02330" "ABCA4_000911" "g.94495970G>A" "" "" "" "ABCA4(NM_000350.3):c.4352+14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94030414G>A" "" "benign" ""
"0000256929" "0" "50" "1" "94495138" "94495138" "subst" "2.43952E-5" "02330" "ABCA4_000909" "g.94495138G>C" "" "" "" "ABCA4(NM_000350.3):c.4402C>G (p.P1468A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94029582G>C" "" "VUS" ""
"0000256930" "0" "30" "1" "94495037" "94495037" "subst" "0.000830658" "02330" "ABCA4_000908" "g.94495037C>G" "" "" "" "ABCA4(NM_000350.3):c.4503G>C (p.E1501D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94029481C>G" "" "likely benign" ""
"0000256931" "0" "50" "1" "94495005" "94495005" "subst" "3.95137E-5" "02330" "ABCA4_000907" "g.94495005G>T" "" "" "" "ABCA4(NM_000350.3):c.4535C>A (p.P1512H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94029449G>T" "" "VUS" ""
"0000256932" "0" "90" "1" "94493272" "94493272" "subst" "0" "02330" "ABCA4_000904" "g.94493272C>A" "" "" "" "ABCA4(NM_000350.2):c.4539+1729G>T, ABCA4(NM_000350.3):c.4539+1729G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94027716C>A" "" "pathogenic" ""
"0000256933" "0" "70" "1" "94493000" "94493000" "subst" "0" "02330" "ABCA4_000015" "g.94493000C>T" "" "" "" "ABCA4(NM_000350.2):c.4539+2001G>A, ABCA4(NM_000350.3):c.4539+2001G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94027444C>T" "" "likely pathogenic" ""
"0000256935" "0" "10" "1" "94490587" "94490587" "subst" "2.03051E-5" "02330" "ABCA4_000901" "g.94490587C>T" "" "" "" "ABCA4(NM_000350.3):c.4557G>A (p.T1519=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94025031C>T" "" "benign" ""
"0000256936" "0" "10" "1" "94490533" "94490533" "subst" "0.00112903" "02330" "ABCA4_000900" "g.94490533C>T" "" "" "" "ABCA4(NM_000350.3):c.4611G>A (p.T1537=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94024977C>T" "" "benign" ""
"0000256937" "0" "10" "1" "94568673" "94568673" "subst" "0.000507808" "02330" "ABCA4_000948" "g.94568673G>A" "" "" "" "ABCA4(NM_000350.3):c.468C>T (p.I156=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94103117G>A" "" "benign" ""
"0000256940" "0" "30" "1" "94486889" "94486889" "subst" "0.000995166" "02330" "ABCA4_000895" "g.94486889C>A" "" "" "" "ABCA4(NM_000350.3):c.4925G>T (p.S1642I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94021333C>A" "" "likely benign" ""
"0000256941" "0" "90" "1" "94484082" "94484082" "subst" "0" "02330" "ABCA4_000028" "g.94484082T>C" "" "" "" "ABCA4(NM_000350.2):c.5196+1056A>G, ABCA4(NM_000350.3):c.5196+1056A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94018526T>C" "" "pathogenic" ""
"0000256942" "0" "30" "1" "94484002" "94484002" "subst" "0" "02330" "ABCA4_000017" "g.94484002G>T" "" "" "" "ABCA4(NM_000350.2):c.5196+1136C>A, ABCA4(NM_000350.3):c.5196+1136C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94018446G>T" "" "likely benign" ""
"0000256943" "0" "90" "1" "94484001" "94484001" "subst" "0" "02330" "ABCA4_000043" "g.94484001C>A" "" "" "" "ABCA4(NM_000350.2):c.5196+1137G>T, ABCA4(NM_000350.3):c.5196+1137G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94018445C>A" "" "pathogenic" ""
"0000256944" "0" "90" "1" "94483979" "94483979" "subst" "0" "02330" "ABCA4_000018" "g.94483979C>T" "" "" "" "ABCA4(NM_000350.2):c.5196+1159G>A, ABCA4(NM_000350.3):c.5196+1159G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94018423C>T" "" "pathogenic" ""
"0000256945" "0" "90" "1" "94483922" "94483922" "subst" "0" "02330" "ABCA4_000027" "g.94483922G>T" "" "" "" "ABCA4(NM_000350.2):c.5196+1216C>A, ABCA4(NM_000350.3):c.5196+1216C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94018366G>T" "" "pathogenic" ""
"0000256947" "0" "10" "1" "94476808" "94476808" "subst" "4.06597E-6" "02330" "ABCA4_000891" "g.94476808T>C" "" "" "" "ABCA4(NM_000350.3):c.5584+10A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94011252T>C" "" "benign" ""
"0000256948" "0" "50" "1" "94568581" "94568581" "subst" "3.65458E-5" "02330" "ABCA4_000202" "g.94568581C>T" "" "" "" "ABCA4(NM_000350.3):c.560G>A (p.R187H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94103025C>T" "" "VUS" ""
"0000256950" "0" "50" "1" "94476377" "94476377" "subst" "0.00160473" "02330" "ABCA4_000411" "g.94476377C>T" "" "" "" "ABCA4(NM_000350.2):c.5693G>A (p.R1898H), ABCA4(NM_000350.3):c.5693G>A (p.R1898H, p.(Arg1898His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94010821C>T" "" "VUS" ""
"0000256951" "0" "90" "1" "94566773" "94566773" "subst" "0" "02330" "ABCA4_000946" "g.94566773T>C" "" "" "" "ABCA4(NM_000350.3):c.570+1798A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94101217T>C" "" "pathogenic" ""
"0000256953" "0" "50" "1" "94564543" "94564543" "subst" "0.000211952" "02330" "ABCA4_000945" "g.94564543G>A" "" "" "" "ABCA4(NM_000350.3):c.575C>T (p.A192V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94098987G>A" "" "VUS" ""
"0000256954" "0" "50" "1" "94474368" "94474368" "subst" "4.06128E-6" "02330" "ABCA4_000887" "g.94474368C>A" "" "" "" "ABCA4(NM_000350.3):c.5774G>T (p.R1925I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94008812C>A" "" "VUS" ""
"0000256957" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "02330" "ABCA4_000046" "g.94473807C>T" "" "" "" "ABCA4(NM_000350.2):c.5882G>A (p.G1961E), ABCA4(NM_000350.3):c.5882G>A (p.G1961E, p.(Gly1961Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic" ""
"0000256958" "0" "10" "1" "94473771" "94473771" "subst" "4.06237E-5" "02330" "ABCA4_000883" "g.94473771G>A" "" "" "" "ABCA4(NM_000350.3):c.5898+20C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94008215G>A" "" "benign" ""
"0000256959" "0" "90" "1" "94468019" "94468019" "subst" "0" "02330" "ABCA4_000877" "g.94468019G>A" "" "" "" "ABCA4(NM_000350.3):c.6148-471C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94002463G>A" "" "pathogenic" ""
"0000256960" "0" "50" "1" "94466624" "94466624" "subst" "0.0014345" "02330" "ABCA4_000093" "g.94466624C>T" "" "" "" "ABCA4(NM_000350.3):c.6320G>A (p.R2107H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94001068C>T" "" "VUS" ""
"0000256961" "0" "90" "1" "94564484" "94564484" "subst" "0.000110199" "02330" "ABCA4_000036" "g.94564484G>A" "" "" "" "ABCA4(NM_000350.3):c.634C>T (p.R212C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94098928G>A" "" "pathogenic" ""
"0000256962" "0" "10" "1" "94463648" "94463648" "subst" "0.00109246" "02330" "ABCA4_000876" "g.94463648G>A" "" "" "" "ABCA4(NM_000350.2):c.6498C>T (p.I2166=), ABCA4(NM_000350.3):c.6498C>T (p.I2166=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93998092G>A" "" "benign" ""
"0000256963" "0" "50" "1" "94564462" "94564462" "subst" "4.06775E-5" "02330" "ABCA4_000380" "g.94564462C>G" "" "" "" "ABCA4(NM_000350.2):c.656G>C (p.R219T), ABCA4(NM_000350.3):c.656G>C (p.R219T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94098906C>G" "" "VUS" ""
"0000256964" "0" "30" "1" "94563992" "94563992" "subst" "0" "02330" "ABCA4_000943" "g.94563992G>A" "" "" "" "ABCA4(NM_000350.3):c.768+358C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94098436G>A" "" "likely benign" ""
"0000258699" "0" "10" "1" "94476388" "94476388" "subst" "0.215397" "02325" "ABCA4_000890" "g.94476388C>G" "" "" "" "ABCA4(NM_000350.2):c.5682G>C (p.L1894=), ABCA4(NM_000350.3):c.5682G>C (p.L1894=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94010832C>G" "" "benign" ""
"0000258700" "0" "10" "1" "94474328" "94474328" "subst" "0.189409" "02325" "ABCA4_000886" "g.94474328T>C" "" "" "" "ABCA4(NM_000350.2):c.5814A>G (p.L1938=), ABCA4(NM_000350.3):c.5814A>G (p.L1938=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94008772T>C" "" "benign" ""
"0000258701" "0" "10" "1" "94473864" "94473864" "subst" "0.173865" "02325" "ABCA4_000885" "g.94473864C>T" "" "" "" "ABCA4(NM_000350.2):c.5836-11G>A, ABCA4(NM_000350.3):c.5836-11G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94008308C>T" "" "benign" ""
"0000258828" "0" "10" "1" "94544276" "94544276" "subst" "0.485644" "02325" "ABCA4_000940" "g.94544276G>A" "" "" "" "ABCA4(NM_000350.2):c.1240-14C>T, ABCA4(NM_000350.3):c.1240-14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94078720G>A" "" "benign" ""
"0000258829" "0" "10" "1" "94578548" "94578548" "subst" "0.997194" "02325" "ABCA4_000950" "g.94578548T>C" "" "" "" "ABCA4(NM_000350.3):c.141A>G (p.P47=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "benign" ""
"0000258830" "0" "10" "1" "94511533" "94511533" "subst" "0" "02325" "ABCA4_000926" "g.94511533G>A" "" "" "" "ABCA4(NM_000350.3):c.2918+942C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94045977G>A" "" "benign" ""
"0000258831" "0" "10" "1" "94473845" "94473845" "subst" "0.172485" "02325" "ABCA4_000884" "g.94473845T>C" "" "" "" "ABCA4(NM_000350.2):c.5844A>G (p.P1948=), ABCA4(NM_000350.3):c.5844A>G (p.P1948=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94008289T>C" "" "benign" ""
"0000258832" "0" "10" "1" "94471154" "94471154" "subst" "0.156733" "02325" "ABCA4_000881" "g.94471154C>T" "" "" "" "ABCA4(NM_000350.2):c.6006-16G>A, ABCA4(NM_000350.3):c.6006-16G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94005598C>T" "" "benign" ""
"0000258833" "0" "10" "1" "94564483" "94564483" "subst" "0.0409724" "02325" "ABCA4_000009" "g.94564483C>T" "" "" "" "ABCA4(NM_000350.3):c.635G>A (p.R212H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94098927C>T" "" "benign" ""
"0000261580" "0" "10" "1" "94544276" "94544276" "subst" "0.485644" "01943" "ABCA4_000940" "g.94544276G>A" "" "" "" "ABCA4(NM_000350.2):c.1240-14C>T, ABCA4(NM_000350.3):c.1240-14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94078720G>A" "" "benign" ""
"0000261581" "0" "10" "1" "94544234" "94544234" "subst" "0.255245" "01943" "ABCA4_000322" "g.94544234T>C" "" "" "" "ABCA4(NM_000350.2):c.1268A>G (p.H423R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94078678T>C" "" "benign" ""
"0000261583" "0" "70" "1" "94543389" "94543389" "subst" "0.000861235" "01943" "ABCA4_000312" "g.94543389C>T" "" "" "" "ABCA4(NM_000350.2):c.1411G>A (p.E471K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94077833C>T" "" "likely pathogenic" ""
"0000261584" "0" "50" "1" "94543323" "94543323" "subst" "0.000182838" "01943" "ABCA4_000936" "g.94543323C>T" "" "" "" "ABCA4(NM_000350.2):c.1477G>A (p.D493N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94077767C>T" "" "VUS" ""
"0000261585" "0" "30" "1" "94543300" "94543300" "subst" "0.000682782" "01943" "ABCA4_000935" "g.94543300C>T" "" "" "" "ABCA4(NM_000350.2):c.1500G>A (p.R500=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94077744C>T" "" "likely benign" ""
"0000261586" "0" "50" "1" "94543268" "94543268" "subst" "0.000778106" "01943" "ABCA4_000306" "g.94543268C>T" "" "" "" "ABCA4(NM_000350.2):c.1532G>A (p.R511H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94077712C>T" "" "VUS" ""
"0000261587" "0" "50" "1" "94528713" "94528713" "subst" "4.87381E-5" "01943" "ABCA4_000072" "g.94528713C>T" "" "" "" "ABCA4(NM_000350.2):c.1715G>A (p.R572Q), ABCA4(NM_000350.3):c.1715G>A (p.R572Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94063157C>T" "" "VUS" ""
"0000261588" "0" "70" "1" "94526296" "94526296" "subst" "1.64555E-5" "01943" "ABCA4_000768" "g.94526296G>A" "" "" "" "ABCA4(NM_000350.2):c.1957C>T (p.R653C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94060740G>A" "" "likely pathogenic" ""
"0000261589" "0" "30" "1" "94522226" "94522226" "subst" "4.06577E-6" "01943" "ABCA4_000929" "g.94522226G>A" "" "" "" "ABCA4(NM_000350.2):c.2313C>T (p.T771=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94056670G>A" "" "likely benign" ""
"0000261591" "0" "50" "1" "94514477" "94514477" "subst" "0.00118992" "01943" "ABCA4_000700" "g.94514477G>A" "" "" "" "ABCA4(NM_000350.2):c.2690C>T (p.T897I, p.(Thr897Ile)), ABCA4(NM_000350.3):c.2690C>T (p.T897I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94048921G>A" "" "VUS" ""
"0000261592" "0" "50" "1" "94514466" "94514466" "subst" "0.00192081" "01943" "ABCA4_000008" "g.94514466T>C" "" "" "" "ABCA4(NM_000350.2):c.2701A>G (p.T901A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94048910T>C" "" "VUS" ""
"0000261593" "0" "30" "1" "94512516" "94512516" "subst" "0.000446984" "01943" "ABCA4_000927" "g.94512516G>A" "" "" "" "ABCA4(NM_000350.2):c.2877C>T (p.T959=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94046960G>A" "" "likely benign" ""
"0000261594" "0" "10" "1" "94576968" "94576968" "subst" "0.519705" "01943" "ABCA4_000949" "g.94576968T>C" "" "" "" "ABCA4(NM_000350.2):c.302+26A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94111412T>C" "" "benign" ""
"0000261595" "0" "30" "1" "94508357" "94508357" "subst" "4.06157E-6" "01943" "ABCA4_000924" "g.94508357C>T" "" "" "" "ABCA4(NM_000350.2):c.3288G>A (p.S1096=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94042801C>T" "" "likely benign" ""
"0000261596" "0" "50" "1" "94505659" "94505659" "subst" "0.000942724" "01943" "ABCA4_000921" "g.94505659C>A" "" "" "" "ABCA4(NM_000350.2):c.3547G>T (p.G1183C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94040103C>A" "" "VUS" ""
"0000261597" "0" "90" "1" "94502899" "94502899" "del" "0" "01943" "ABCA4_000920" "g.94502899del" "" "" "" "ABCA4(NM_000350.2):c.3617delA (p.N1206Mfs*3)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94037343del" "" "pathogenic" ""
"0000261598" "0" "50" "1" "94502877" "94502877" "subst" "3.6608E-5" "01943" "ABCA4_000919" "g.94502877G>A" "" "" "" "ABCA4(NM_000350.2):c.3637C>T (p.L1213F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94037321G>A" "" "VUS" ""
"0000261599" "0" "30" "1" "94497412" "94497412" "subst" "0.00112076" "01943" "ABCA4_000915" "g.94497412C>G" "" "" "" "ABCA4(NM_000350.2):c.4050G>C (p.L1350=), ABCA4(NM_000350.3):c.4050G>C (p.L1350=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94031856C>G" "" "likely benign" ""
"0000261600" "0" "10" "1" "94496602" "94496602" "subst" "0.0234538" "01943" "ABCA4_000913" "g.94496602G>T" "" "" "" "ABCA4(NM_000350.2):c.4203C>A (p.P1401=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94031046G>T" "" "benign" ""
"0000261601" "0" "90" "1" "94495071" "94495071" "subst" "6.39479E-5" "01943" "ABCA4_000997" "g.94495071C>T" "" "" "" "ABCA4(NM_000350.2):c.4469G>A (p.C1490Y), ABCA4(NM_000350.3):c.4469G>A (p.C1490Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94029515C>T" "" "pathogenic" ""
"0000261602" "0" "90" "1" "94495034" "94495034" "subst" "5.28994E-6" "01943" "ABCA4_000539" "g.94495034G>T" "" "" "" "ABCA4(NM_000350.2):c.4506C>A (p.C1502*), ABCA4(NM_000350.3):c.4506C>A (p.C1502*, p.(Cys1502Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94029478G>T" "" "pathogenic" ""
"0000261603" "0" "10" "1" "94493299" "94493299" "subst" "0" "01943" "ABCA4_000905" "g.94493299T>C" "" "" "" "ABCA4(NM_000350.2):c.4539+1702A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94027743T>C" "" "benign" ""
"0000261604" "0" "90" "1" "94493272" "94493272" "subst" "0" "01943" "ABCA4_000904" "g.94493272C>A" "" "" "" "ABCA4(NM_000350.2):c.4539+1729G>T, ABCA4(NM_000350.3):c.4539+1729G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94027716C>A" "" "pathogenic" ""
"0000261605" "0" "10" "1" "94493231" "94493231" "subst" "0" "01943" "ABCA4_000903" "g.94493231G>T" "" "" "" "ABCA4(NM_000350.2):c.4539+1770C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94027675G>T" "" "benign" ""
"0000261606" "0" "90" "1" "94493000" "94493000" "subst" "0" "01943" "ABCA4_000015" "g.94493000C>T" "" "" "" "ABCA4(NM_000350.2):c.4539+2001G>A, ABCA4(NM_000350.3):c.4539+2001G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94027444C>T" "" "pathogenic" ""
"0000261607" "0" "10" "1" "94492972" "94492972" "subst" "0" "01943" "ABCA4_000902" "g.94492972G>C" "" "" "" "ABCA4(NM_000350.2):c.4539+2029C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94027416G>C" "" "benign" ""
"0000261608" "0" "50" "1" "94487404" "94487404" "subst" "0.00244055" "01943" "ABCA4_000497" "g.94487404C>T" "" "" "" "ABCA4(NM_000350.2):c.4771G>A (p.G1591R), ABCA4(NM_000350.3):c.4771G>A (p.G1591R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94021848C>T" "" "VUS" ""
"0000261609" "0" "30" "1" "94487392" "94487392" "subst" "2.84264E-5" "01943" "ABCA4_000898" "g.94487392G>A" "" "" "" "ABCA4(NM_000350.2):c.4773+10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94021836G>A" "" "likely benign" ""
"0000261610" "0" "10" "1" "94487287" "94487288" "del" "0" "01943" "ABCA4_000896" "g.94487287_94487288del" "" "" "" "ABCA4(NM_000350.2):c.4774-17_4774-16delGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94021731_94021732del" "" "benign" ""
"0000261611" "0" "30" "1" "94486788" "94486788" "subst" "0.000735109" "01943" "ABCA4_000894" "g.94486788T>C" "" "" "" "ABCA4(NM_000350.2):c.5018+8A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94021232T>C" "" "likely benign" ""
"0000261612" "0" "50" "1" "94568627" "94568627" "subst" "0.000422314" "01943" "ABCA4_000207" "g.94568627C>T" "" "" "" "ABCA4(NM_000350.2):c.514G>A (p.G172S), ABCA4(NM_000350.3):c.514G>A (p.G172S, p.(Gly172Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94103071C>T" "" "VUS" ""
"0000261613" "0" "90" "1" "94484082" "94484082" "subst" "0" "01943" "ABCA4_000028" "g.94484082T>C" "" "" "" "ABCA4(NM_000350.2):c.5196+1056A>G, ABCA4(NM_000350.3):c.5196+1056A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94018526T>C" "" "pathogenic" ""
"0000261614" "0" "50" "1" "94484002" "94484002" "subst" "0" "01943" "ABCA4_000017" "g.94484002G>T" "" "" "" "ABCA4(NM_000350.2):c.5196+1136C>A, ABCA4(NM_000350.3):c.5196+1136C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94018446G>T" "" "VUS" ""
"0000261615" "0" "90" "1" "94484001" "94484001" "subst" "0" "01943" "ABCA4_000043" "g.94484001C>A" "" "" "" "ABCA4(NM_000350.2):c.5196+1137G>T, ABCA4(NM_000350.3):c.5196+1137G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94018445C>A" "" "pathogenic" ""
"0000261616" "0" "50" "1" "94483979" "94483979" "subst" "0" "01943" "ABCA4_000018" "g.94483979C>T" "" "" "" "ABCA4(NM_000350.2):c.5196+1159G>A, ABCA4(NM_000350.3):c.5196+1159G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94018423C>T" "" "VUS" ""
"0000261617" "0" "90" "1" "94483922" "94483922" "subst" "0" "01943" "ABCA4_000027" "g.94483922G>T" "" "" "" "ABCA4(NM_000350.2):c.5196+1216C>A, ABCA4(NM_000350.3):c.5196+1216C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94018366G>T" "" "pathogenic" ""
"0000261618" "0" "10" "1" "94476992" "94476992" "del" "0" "01943" "ABCA4_000893" "g.94476992del" "" "" "" "ABCA4(NM_000350.2):c.5461-51delA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94011436del" "" "benign" ""
"0000261619" "0" "50" "1" "94476889" "94476889" "subst" "0" "01943" "ABCA4_000892" "g.94476889T>C" "" "" "" "ABCA4(NM_000350.2):c.5513A>G (p.H1838R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94011333T>C" "" "VUS" ""
"0000261620" "0" "50" "1" "94476428" "94476428" "subst" "7.71699E-5" "01943" "ABCA4_000422" "g.94476428G>A" "" "" "" "ABCA4(NM_000350.2):c.5642C>T (p.A1881V), ABCA4(NM_000350.3):c.5642C>T (p.A1881V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94010872G>A" "" "VUS" ""
"0000261621" "0" "10" "1" "94476388" "94476388" "subst" "0.215397" "01943" "ABCA4_000890" "g.94476388C>G" "" "" "" "ABCA4(NM_000350.2):c.5682G>C (p.L1894=), ABCA4(NM_000350.3):c.5682G>C (p.L1894=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94010832C>G" "" "benign" ""
"0000261622" "0" "50" "1" "94476377" "94476377" "subst" "0.00160473" "01943" "ABCA4_000411" "g.94476377C>T" "" "" "" "ABCA4(NM_000350.2):c.5693G>A (p.R1898H), ABCA4(NM_000350.3):c.5693G>A (p.R1898H, p.(Arg1898His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94010821C>T" "" "VUS" ""
"0000261623" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01943" "ABCA4_000996" "g.94476351C>T" "" "" "" "ABCA4(NM_000350.2):c.5714+5G>A, ABCA4(NM_000350.3):c.5714+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic" ""
"0000261624" "0" "10" "1" "94474452" "94474452" "subst" "0.189549" "01943" "ABCA4_000888" "g.94474452T>G" "" "" "" "ABCA4(NM_000350.2):c.5715-25A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94008896T>G" "" "benign" ""
"0000261625" "0" "10" "1" "94474328" "94474328" "subst" "0.189409" "01943" "ABCA4_000886" "g.94474328T>C" "" "" "" "ABCA4(NM_000350.2):c.5814A>G (p.L1938=), ABCA4(NM_000350.3):c.5814A>G (p.L1938=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94008772T>C" "" "benign" ""
"0000261626" "0" "10" "1" "94473864" "94473864" "subst" "0.173865" "01943" "ABCA4_000885" "g.94473864C>T" "" "" "" "ABCA4(NM_000350.2):c.5836-11G>A, ABCA4(NM_000350.3):c.5836-11G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94008308C>T" "" "benign" ""
"0000261627" "0" "10" "1" "94473845" "94473845" "subst" "0.172485" "01943" "ABCA4_000884" "g.94473845T>C" "" "" "" "ABCA4(NM_000350.2):c.5844A>G (p.P1948=), ABCA4(NM_000350.3):c.5844A>G (p.P1948=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94008289T>C" "" "benign" ""
"0000261628" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01943" "ABCA4_000046" "g.94473807C>T" "" "" "" "ABCA4(NM_000350.2):c.5882G>A (p.G1961E), ABCA4(NM_000350.3):c.5882G>A (p.G1961E, p.(Gly1961Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic" ""
"0000261629" "0" "10" "1" "94471154" "94471154" "subst" "0.156733" "01943" "ABCA4_000881" "g.94471154C>T" "" "" "" "ABCA4(NM_000350.2):c.6006-16G>A, ABCA4(NM_000350.3):c.6006-16G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94005598C>T" "" "benign" ""
"0000261632" "0" "50" "1" "94564500" "94564500" "subst" "0.00100414" "01943" "ABCA4_000069" "g.94564500G>C" "" "" "" "ABCA4(NM_000350.2):c.618C>G (p.S206R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94098944G>C" "" "VUS" ""
"0000261633" "0" "50" "1" "94564451" "94564451" "subst" "0.000150413" "01943" "ABCA4_000378" "g.94564451T>G" "" "" "" "ABCA4(NM_000350.2):c.667A>C (p.K223Q, p.(Lys223Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94098895T>G" "" "VUS" ""
"0000261634" "0" "50" "1" "94564441" "94564441" "subst" "0.000219425" "01943" "ABCA4_000944" "g.94564441C>T" "" "" "" "ABCA4(NM_000350.2):c.677G>A (p.R226H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94098885C>T" "" "VUS" ""
"0000261635" "0" "50" "1" "94461675" "94461675" "subst" "3.25388E-5" "01943" "ABCA4_000875" "g.94461675C>T" "" "" "" "ABCA4(NM_000350.2):c.6806G>A (p.R2269Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93996119C>T" "" "VUS" ""
"0000261636" "0" "70" "1" "94578618" "94578618" "subst" "0.000166918" "01943" "ABCA4_000252" "g.94578618C>T" "" "" "" "ABCA4(NM_000350.2):c.71G>A (p.R24H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94113062C>T" "" "likely pathogenic" ""
"0000261637" "0" "50" "1" "94564355" "94564355" "subst" "0.000105612" "01943" "ABCA4_000365" "g.94564355G>A" "" "" "" "ABCA4(NM_000350.2):c.763C>T (p.R255C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94098799G>A" "" "VUS" ""
"0000261638" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01943" "ABCA4_000045" "g.94564350C>A" "" "" "" "ABCA4(NM_000350.2):c.768G>T (p.V256=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic" ""
"0000261639" "0" "30" "1" "94546152" "94546152" "subst" "0.000455685" "01943" "ABCA4_000942" "g.94546152G>A" "" "" "" "ABCA4(NM_000350.2):c.981C>T (p.P327=), ABCA4(NM_000350.3):c.981C>T (p.P327=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94080596G>A" "" "likely benign" ""
"0000336341" "21" "90" "1" "94473807" "94473807" "subst" "0.00480453" "00006" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Weisz Hubshman 2018:29272404}" "" "" "variant has mild effect, late onset" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (!)" ""
"0000336342" "21" "30" "1" "94568675" "94568675" "subst" "0.00146249" "00006" "ABCA4_000210" "g.94568675T>C" "" "{PMID:Weisz Hubshman 2018:29272404}" "" "" "" "Germline" "" "" "0" "" "" "g.94103119T>C" "" "likely benign" ""
"0000338914" "0" "10" "1" "94458783" "94458783" "subst" "0.00174189" "02327" "ABCA4_000874" "g.94458783G>T" "" "" "" "ABCA4(NM_000350.3):c.*10C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93993227G>T" "" "benign" ""
"0000338915" "0" "10" "1" "94461754" "94461754" "subst" "0.0642229" "02327" "ABCA4_000951" "g.94461754A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93996198A>G" "" "benign" ""
"0000338916" "0" "50" "1" "94461770" "94461770" "subst" "0.000816533" "02327" "ABCA4_000952" "g.94461770C>T" "" "" "" "ABCA4(NM_000350.3):c.6730-19G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93996214C>T" "" "VUS" ""
"0000338917" "0" "70" "1" "94466556" "94466556" "subst" "4.06164E-6" "02327" "ABCA4_000831" "g.94466556G>C" "" "" "" "ABCA4(NM_000350.2):c.6386+2C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94001000G>C" "" "likely pathogenic" ""
"0000338918" "0" "10" "1" "94467407" "94467407" "subst" "0.0756573" "02327" "ABCA4_000846" "g.94467407C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94001851C>T" "" "benign" ""
"0000338919" "0" "10" "1" "94471154" "94471154" "subst" "0.156733" "02327" "ABCA4_000881" "g.94471154C>T" "" "" "" "ABCA4(NM_000350.2):c.6006-16G>A, ABCA4(NM_000350.3):c.6006-16G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94005598C>T" "" "benign" ""
"0000338920" "0" "10" "1" "94473173" "94473173" "subst" "0" "02327" "ABCA4_000957" "g.94473173A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94007617A>G" "" "benign" ""
"0000338921" "0" "10" "1" "94473864" "94473864" "subst" "0.173865" "02327" "ABCA4_000885" "g.94473864C>T" "" "" "" "ABCA4(NM_000350.2):c.5836-11G>A, ABCA4(NM_000350.3):c.5836-11G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94008308C>T" "" "benign" ""
"0000338923" "0" "90" "1" "94481294" "94481294" "subst" "0" "02327" "ABCA4_000110" "g.94481294C>T" "" "" "" "ABCA4(NM_000350.3):c.5312+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94015738C>T" "" "pathogenic" ""
"0000338924" "0" "50" "1" "94483979" "94483979" "subst" "0" "02327" "ABCA4_000018" "g.94483979C>T" "" "" "" "ABCA4(NM_000350.2):c.5196+1159G>A, ABCA4(NM_000350.3):c.5196+1159G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94018423C>T" "" "VUS" ""
"0000338925" "0" "70" "1" "94484001" "94484001" "subst" "0" "02327" "ABCA4_000016" "g.94484001C>T" "" "" "" "ABCA4(NM_000350.3):c.5196+1137G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94018445C>T" "" "likely pathogenic" ""
"0000338926" "0" "30" "1" "94485118" "94485118" "subst" "0.00129183" "02327" "ABCA4_000963" "g.94485118C>T" "" "" "" "ABCA4(NM_000350.3):c.5196+20G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94019562C>T" "" "likely benign" ""
"0000338927" "0" "90" "1" "94485137" "94485137" "subst" "0" "02327" "ABCA4_000465" "g.94485137C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94019581C>A" "" "pathogenic" ""
"0000338928" "0" "90" "1" "94486794" "94486794" "subst" "0" "02327" "ABCA4_000478" "g.94486794A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94021238A>G" "" "pathogenic" ""
"0000338930" "0" "90" "1" "94490606" "94490606" "subst" "4.06091E-6" "02327" "ABCA4_000086" "g.94490606T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94025050T>C" "" "pathogenic" ""
"0000338931" "0" "90" "1" "94493000" "94493000" "subst" "0" "02327" "ABCA4_000015" "g.94493000C>T" "" "" "" "ABCA4(NM_000350.2):c.4539+2001G>A, ABCA4(NM_000350.3):c.4539+2001G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94027444C>T" "" "pathogenic" ""
"0000338932" "0" "90" "1" "94495000" "94495000" "subst" "0" "02327" "ABCA4_000164" "g.94495000C>A" "" "" "" "ABCA4(NM_000350.3):c.4539+1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94029444C>A" "" "pathogenic" ""
"0000338933" "0" "70" "1" "94508454" "94508456" "del" "0" "02327" "ABCA4_000006" "g.94508454_94508456del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94042898_94042900del" "" "likely pathogenic" ""
"0000338934" "0" "70" "1" "94522155" "94522155" "subst" "0" "02327" "ABCA4_000975" "g.94522155A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94056599A>G" "" "likely pathogenic" ""
"0000338935" "0" "90" "1" "94526092" "94526092" "subst" "0" "02327" "ABCA4_000749" "g.94526092C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94060536C>A" "" "pathogenic" ""
"0000338936" "0" "90" "1" "94528132" "94528132" "subst" "0" "02327" "ABCA4_000977" "g.94528132C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94062576C>A" "" "pathogenic" ""
"0000338938" "0" "10" "1" "94544276" "94544276" "subst" "0.485644" "02327" "ABCA4_000940" "g.94544276G>A" "" "" "" "ABCA4(NM_000350.2):c.1240-14C>T, ABCA4(NM_000350.3):c.1240-14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94078720G>A" "" "benign" ""
"0000338939" "0" "10" "1" "94576974" "94576974" "subst" "0.00115785" "02327" "ABCA4_000220" "g.94576974G>A" "" "" "" "ABCA4(NM_000350.3):c.302+20C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94111418G>A" "" "benign" ""
"0000340571" "0" "10" "1" "94466659" "94466659" "subst" "0.155961" "02327" "ABCA4_000953" "g.94466659A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94001103A>G" "" "benign" ""
"0000340572" "0" "10" "1" "94467447" "94467447" "subst" "0.0757472" "02327" "ABCA4_000954" "g.94467447G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94001891G>A" "" "benign" ""
"0000340573" "0" "10" "1" "94471075" "94471075" "subst" "0.899539" "02327" "ABCA4_000880" "g.94471075A>G" "" "" "" "ABCA4(NM_000350.2):c.6069T>C (p.I2023=), ABCA4(NM_000350.3):c.6069T>C (p.I2023=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94005519A>G" "" "benign" ""
"0000340574" "0" "10" "1" "94473845" "94473845" "subst" "0.172485" "02327" "ABCA4_000884" "g.94473845T>C" "" "" "" "ABCA4(NM_000350.2):c.5844A>G (p.P1948=), ABCA4(NM_000350.3):c.5844A>G (p.P1948=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94008289T>C" "" "benign" ""
"0000340575" "0" "10" "1" "94474328" "94474328" "subst" "0.189409" "02327" "ABCA4_000886" "g.94474328T>C" "" "" "" "ABCA4(NM_000350.2):c.5814A>G (p.L1938=), ABCA4(NM_000350.3):c.5814A>G (p.L1938=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94008772T>C" "" "benign" ""
"0000340576" "0" "10" "1" "94476388" "94476388" "subst" "0.215397" "02327" "ABCA4_000890" "g.94476388C>G" "" "" "" "ABCA4(NM_000350.2):c.5682G>C (p.L1894=), ABCA4(NM_000350.3):c.5682G>C (p.L1894=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94010832C>G" "" "benign" ""
"0000340578" "0" "10" "1" "94496602" "94496602" "subst" "0.0234538" "02327" "ABCA4_000913" "g.94496602G>T" "" "" "" "ABCA4(NM_000350.2):c.4203C>A (p.P1401=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94031046G>T" "" "benign" ""
"0000340579" "0" "30" "1" "94497412" "94497412" "subst" "0.00112076" "02327" "ABCA4_000915" "g.94497412C>G" "" "" "" "ABCA4(NM_000350.2):c.4050G>C (p.L1350=), ABCA4(NM_000350.3):c.4050G>C (p.L1350=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94031856C>G" "" "likely benign" ""
"0000340580" "0" "10" "1" "94544233" "94544233" "subst" "0.0868298" "02327" "ABCA4_000980" "g.94544233G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94078677G>A" "" "benign" ""
"0000340709" "0" "10" "1" "94577059" "94577059" "subst" "0.000686506" "02327" "ABCA4_000988" "g.94577059A>G" "" "" "" "ABCA4(NM_000350.3):c.237T>C (p.N79=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94111503A>G" "" "benign" ""
"0000340738" "0" "30" "1" "94495034" "94495034" "subst" "1.58698E-5" "02327" "ABCA4_000964" "g.94495034G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94029478G>A" "" "likely benign" ""
"0000341096" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "02327" "ABCA4_000021" "g.94508969G>A" "" "" "" "ABCA4(NM_000350.2):c.3113C>T (p.A1038V, p.(Ala1038Val)), ABCA4(NM_000350.3):c.3113C>T (p.A1038V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic" ""
"0000341195" "0" "70" "1" "94487251" "94487251" "subst" "2.85679E-5" "02327" "ABCA4_000490" "g.94487251G>T" "" "" "" "ABCA4(NM_000350.2):c.4793C>A (p.A1598D), ABCA4(NM_000350.3):c.4793C>A (p.A1598D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94021695G>T" "" "likely pathogenic" ""
"0000341717" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "02327" "ABCA4_000031" "g.94508323G>A" "" "" "" "ABCA4(NM_000350.3):c.3322C>T (p.R1108C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic" ""
"0000341736" "0" "70" "1" "94506902" "94506902" "subst" "1.21834E-5" "02327" "ABCA4_000623" "g.94506902G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94041346G>A" "" "likely pathogenic" ""
"0000341836" "0" "10" "1" "94497563" "94497563" "subst" "0.00492504" "02327" "ABCA4_000090" "g.94497563C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94032007C>T" "" "benign" ""
"0000341965" "0" "90" "1" "94568687" "94568687" "subst" "1.62641E-5" "02327" "ABCA4_000024" "g.94568687G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94103131G>A" "" "pathogenic" ""
"0000342145" "0" "50" "1" "94476377" "94476377" "subst" "0.00160473" "02327" "ABCA4_000411" "g.94476377C>T" "" "" "" "ABCA4(NM_000350.2):c.5693G>A (p.R1898H), ABCA4(NM_000350.3):c.5693G>A (p.R1898H, p.(Arg1898His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94010821C>T" "" "VUS" ""
"0000342234" "0" "90" "1" "94466628" "94466628" "subst" "0.000109748" "02327" "ABCA4_000094" "g.94466628G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94001072G>A" "" "pathogenic" ""
"0000342235" "0" "70" "1" "94466625" "94466625" "subst" "1.62559E-5" "02327" "ABCA4_000839" "g.94466625G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94001069G>A" "" "likely pathogenic" ""
"0000342242" "0" "90" "1" "94564484" "94564484" "subst" "0.000110199" "02327" "ABCA4_000036" "g.94564484G>A" "" "" "" "ABCA4(NM_000350.3):c.634C>T (p.R212C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94098928G>A" "" "pathogenic" ""
"0000342247" "0" "10" "1" "94564483" "94564483" "subst" "0.0409724" "02327" "ABCA4_000009" "g.94564483C>T" "" "" "" "ABCA4(NM_000350.3):c.635G>A (p.R212H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94098927C>T" "" "benign" ""
"0000342251" "0" "90" "1" "94466426" "94466426" "subst" "1.62433E-5" "02327" "ABCA4_000124" "g.94466426G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94000870G>A" "" "pathogenic" ""
"0000342282" "0" "50" "1" "94564462" "94564462" "subst" "4.06775E-5" "02327" "ABCA4_000380" "g.94564462C>G" "" "" "" "ABCA4(NM_000350.2):c.656G>C (p.R219T), ABCA4(NM_000350.3):c.656G>C (p.R219T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94098906C>G" "" "VUS" ""
"0000342314" "0" "50" "1" "94564441" "94564441" "subst" "0.000219425" "02327" "ABCA4_000944" "g.94564441C>T" "" "" "" "ABCA4(NM_000350.2):c.677G>A (p.R226H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94098885C>T" "" "VUS" ""
"0000342411" "0" "70" "1" "94578619" "94578619" "subst" "2.85088E-5" "02327" "ABCA4_000253" "g.94578619G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94113063G>A" "" "likely pathogenic" ""
"0000342413" "0" "90" "1" "94578618" "94578618" "subst" "0.000166918" "02327" "ABCA4_000252" "g.94578618C>T" "" "" "" "ABCA4(NM_000350.2):c.71G>A (p.R24H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94113062C>T" "" "pathogenic" ""
"0000342549" "0" "90" "1" "94546265" "94546265" "subst" "2.04063E-5" "02327" "ABCA4_000355" "g.94546265G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94080709G>A" "" "pathogenic" ""
"0000343257" "0" "90" "1" "94526212" "94526212" "subst" "1.22012E-5" "02327" "ABCA4_000075" "g.94526212G>A" "" "" "" "ABCA4(NM_000350.3):c.2041C>T (p.R681*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94060656G>A" "" "pathogenic" ""
"0000343500" "0" "10" "1" "94512565" "94512565" "subst" "0.030364" "02327" "ABCA4_000002" "g.94512565C>T" "" "" "" "ABCA4(NM_000350.3):c.2828G>A (p.R943Q, p.(Arg943Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94047009C>T" "" "benign" ""
"0000343644" "0" "90" "1" "94467543" "94467543" "del" "0" "02327" "ABCA4_000955" "g.94467543del" "" "" "" "ABCA4(NM_000350.3):c.6155delA (p.N2052Tfs*9)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94001987del" "" "pathogenic" ""
"0000343668" "0" "50" "1" "94564378" "94564378" "subst" "0" "02327" "ABCA4_000368" "g.94564378T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94098822T>A" "" "VUS" ""
"0000343736" "0" "30" "1" "94544977" "94544977" "subst" "0.000544432" "02327" "ABCA4_000332" "g.94544977A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94079421A>T" "" "likely benign" ""
"0000343851" "0" "90" "1" "94512499" "94512499" "subst" "0.000130029" "02327" "ABCA4_000072" "g.94512499T>C" "" "" "" "ABCA4(NM_000350.2):c.2894A>G (p.N965S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94046943T>C" "" "pathogenic" ""
"0000343853" "0" "50" "1" "94577008" "94577008" "subst" "0" "02327" "ABCA4_000223" "g.94577008G>T" "" "" "" "ABCA4(NM_000350.3):c.288C>A (p.N96K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94111452G>T" "" "VUS" ""
"0000343857" "0" "50" "1" "94577002" "94577002" "subst" "7.32398E-5" "02327" "ABCA4_000987" "g.94577002G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94111446G>C" "" "VUS" ""
"0000344206" "0" "70" "1" "94514424" "94514424" "subst" "4.06105E-6" "02327" "ABCA4_000972" "g.94514424C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94048868C>T" "" "likely pathogenic" ""
"0000344279" "0" "90" "1" "94495078" "94495078" "subst" "8.37044E-6" "02327" "ABCA4_000042" "g.94495078A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94029522A>G" "" "pathogenic" ""
"0000344280" "0" "90" "1" "94495071" "94495071" "subst" "6.39479E-5" "02327" "ABCA4_000997" "g.94495071C>T" "" "" "" "ABCA4(NM_000350.2):c.4469G>A (p.C1490Y), ABCA4(NM_000350.3):c.4469G>A (p.C1490Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94029515C>T" "" "pathogenic" ""
"0000344282" "0" "90" "1" "94495034" "94495034" "subst" "5.28994E-6" "02327" "ABCA4_000539" "g.94495034G>T" "" "" "" "ABCA4(NM_000350.2):c.4506C>A (p.C1502*), ABCA4(NM_000350.3):c.4506C>A (p.C1502*, p.(Cys1502Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94029478G>T" "" "pathogenic" ""
"0000344299" "0" "50" "1" "94473295" "94473295" "subst" "0" "02327" "ABCA4_000958" "g.94473295C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94007739C>T" "" "VUS" ""
"0000344312" "0" "90" "1" "94466460" "94466460" "subst" "0" "02327" "ABCA4_000824" "g.94466460A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94000904A>T" "" "pathogenic" ""
"0000344553" "0" "90" "1" "94496571" "94496571" "subst" "4.06174E-6" "02327" "ABCA4_000111" "g.94496571G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94031015G>A" "" "pathogenic" ""
"0000344654" "0" "90" "1" "94586541" "94586541" "subst" "4.0624E-6" "02327" "ABCA4_000256" "g.94586541G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94120985G>A" "" "pathogenic" ""
"0000344670" "0" "90" "1" "94463488" "94463488" "subst" "5.2803E-5" "02327" "ABCA4_000802" "g.94463488G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93997932G>A" "" "pathogenic" ""
"0000344918" "0" "90" "1" "94528236" "94528236" "subst" "0" "02327" "ABCA4_000276" "g.94528236G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94062680G>A" "" "pathogenic" ""
"0000344987" "0" "50" "1" "94520732" "94520732" "subst" "0" "02327" "ABCA4_000973" "g.94520732T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94055176T>G" "" "VUS" ""
"0000345063" "0" "70" "1" "94506923" "94506923" "subst" "2.43657E-5" "02327" "ABCA4_000012" "g.94506923C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94041367C>T" "" "likely pathogenic" ""
"0000345100" "0" "90" "1" "94502681" "94502681" "subst" "0" "02327" "ABCA4_000968" "g.94502681A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94037125A>C" "" "pathogenic" ""
"0000345443" "0" "50" "1" "94543389" "94543389" "subst" "0.000861235" "02327" "ABCA4_000312" "g.94543389C>T" "" "" "" "ABCA4(NM_000350.2):c.1411G>A (p.E471K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94077833C>T" "" "VUS" ""
"0000345741" "0" "70" "1" "94495021" "94495021" "subst" "0.000161713" "02327" "ABCA4_000538" "g.94495021C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94029465C>T" "" "likely pathogenic" ""
"0000345757" "0" "30" "1" "94487404" "94487404" "subst" "0.00244055" "02327" "ABCA4_000497" "g.94487404C>T" "" "" "" "ABCA4(NM_000350.2):c.4771G>A (p.G1591R), ABCA4(NM_000350.3):c.4771G>A (p.G1591R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94021848C>T" "" "likely benign" ""
"0000345791" "0" "50" "1" "94568627" "94568627" "subst" "0.000422314" "02327" "ABCA4_000207" "g.94568627C>T" "" "" "" "ABCA4(NM_000350.2):c.514G>A (p.G172S), ABCA4(NM_000350.3):c.514G>A (p.G172S, p.(Gly172Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94103071C>T" "" "VUS" ""
"0000345827" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "02327" "ABCA4_000046" "g.94473807C>T" "" "" "" "ABCA4(NM_000350.2):c.5882G>A (p.G1961E), ABCA4(NM_000350.3):c.5882G>A (p.G1961E, p.(Gly1961Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic" ""
"0000345829" "0" "70" "1" "94473281" "94473281" "subst" "0" "02327" "ABCA4_000393" "g.94473281C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94007725C>T" "" "likely pathogenic" ""
"0000346193" "0" "70" "1" "94528217" "94528217" "subst" "0" "02327" "ABCA4_000272" "g.94528217C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94062661C>T" "" "likely pathogenic" ""
"0000346273" "0" "90" "1" "94577064" "94577064" "subst" "0" "02327" "ABCA4_000989" "g.94577064T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94111508T>C" "" "pathogenic" ""
"0000346305" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "02327" "ABCA4_000034" "g.94517254C>G" "" "" "" "ABCA4(NM_000350.2):c.2588G>C (p.G863A, p.(Gly863Ala)), ABCA4(NM_000350.3):c.2588G>C (p.G863A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic" ""
"0000346398" "0" "50" "1" "94474321" "94474321" "subst" "0" "02327" "ABCA4_000959" "g.94474321G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94008765G>A" "" "VUS" ""
"0000346472" "0" "10" "1" "94544234" "94544234" "subst" "0.255245" "02327" "ABCA4_000322" "g.94544234T>C" "" "" "" "ABCA4(NM_000350.2):c.1268A>G (p.H423R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94078678T>C" "" "benign" ""
"0000346591" "0" "30" "1" "94568675" "94568675" "subst" "0.00146249" "02327" "ABCA4_000210" "g.94568675T>C" "" "" "" "ABCA4(NM_000350.2):c.466A>G (p.I156V), ABCA4(NM_000350.3):c.466A>G (p.I156V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94103119T>C" "" "likely benign" ""
"0000346928" "0" "70" "1" "94486922" "94486922" "subst" "0" "02327" "ABCA4_000044" "g.94486922A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94021366A>G" "" "likely pathogenic" ""
"0000346968" "0" "90" "1" "94474329" "94474329" "subst" "0" "02327" "ABCA4_000960" "g.94474329A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94008773A>C" "" "pathogenic" ""
"0000346978" "0" "90" "1" "94471065" "94471065" "subst" "0.000194997" "02327" "ABCA4_000384" "g.94471065G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94005509G>A" "" "pathogenic" ""
"0000346999" "0" "70" "1" "94463568" "94463603" "del" "0" "02327" "ABCA4_000805" "g.94463568_94463603del" "" "" "" "ABCA4(NM_000350.3):c.6545_6580del (p.L2182_F2193del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93998012_93998047del" "" "likely pathogenic" ""
"0000347218" "0" "90" "1" "94528806" "94528806" "subst" "0.000150298" "02327" "ABCA4_000020" "g.94528806A>G" "" "" "" "ABCA4(NM_000350.2):c.1622T>C (p.L541P), ABCA4(NM_000350.3):c.1622T>C (p.L541P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94063250A>G" "" "pathogenic" ""
"0000348077" "0" "90" "1" "94528248" "94528248" "subst" "1.22148E-5" "02327" "ABCA4_000279" "g.94528248A>T" "" "" "" "ABCA4(NM_000350.2):c.1822T>A (p.F608I), ABCA4(NM_000350.3):c.1822T>A (p.F608I, p.(Phe608Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94062692A>T" "" "pathogenic" ""
"0000348085" "0" "50" "1" "94526289" "94526289" "subst" "0.000417202" "02327" "ABCA4_000767" "g.94526289A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94060733A>C" "" "VUS" ""
"0000348190" "0" "50" "1" "94496622" "94496622" "subst" "0" "02327" "ABCA4_000965" "g.94496622G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94031066G>A" "" "VUS" ""
"0000348199" "0" "50" "1" "94495138" "94495138" "subst" "2.43952E-5" "02327" "ABCA4_000909" "g.94495138G>C" "" "" "" "ABCA4(NM_000350.3):c.4402C>G (p.P1468A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94029582G>C" "" "VUS" ""
"0000348260" "0" "10" "1" "94473846" "94473846" "subst" "0.0315833" "02327" "ABCA4_000001" "g.94473846G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94008290G>A" "" "benign" ""
"0000348261" "0" "50" "1" "94564531" "94564531" "subst" "8.3561E-6" "02327" "ABCA4_000986" "g.94564531G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94098975G>A" "" "VUS" ""
"0000348646" "0" "70" "1" "94508433" "94508433" "subst" "8.12209E-6" "02327" "ABCA4_000151" "g.94508433G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94042877G>A" "" "likely pathogenic" ""
"0000348686" "0" "50" "1" "94502780" "94502780" "subst" "4.06336E-6" "02327" "ABCA4_000969" "g.94502780C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94037224C>T" "" "VUS" ""
"0000348701" "0" "50" "1" "94497500" "94497500" "subst" "5.28838E-5" "02327" "ABCA4_000967" "g.94497500G>A" "" "" "" "ABCA4(NM_000350.3):c.3962C>T (p.S1321F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94031944G>A" "" "VUS" ""
"0000348840" "0" "10" "1" "94461717" "94461717" "subst" "0.0703199" "02327" "ABCA4_000003" "g.94461717C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93996161C>A" "" "benign" ""
"0000349236" "0" "50" "1" "94508463" "94508463" "subst" "0" "02327" "ABCA4_000971" "g.94508463A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94042907A>G" "" "VUS" ""
"0000349266" "0" "50" "1" "94502756" "94502756" "subst" "0.000422575" "02327" "ABCA4_000032" "g.94502756G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94037200G>A" "" "VUS" ""
"0000349292" "0" "90" "1" "94490567" "94490567" "subst" "5.68528E-5" "02327" "ABCA4_000026" "g.94490567G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94025011G>A" "" "pathogenic" ""
"0000349366" "0" "50" "1" "94564447" "94564447" "subst" "5.69013E-5" "02327" "ABCA4_000985" "g.94564447G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94098891G>A" "" "VUS" ""
"0000349650" "0" "50" "1" "94514477" "94514477" "subst" "0.00118992" "02327" "ABCA4_000700" "g.94514477G>A" "" "" "" "ABCA4(NM_000350.2):c.2690C>T (p.T897I, p.(Thr897Ile)), ABCA4(NM_000350.3):c.2690C>T (p.T897I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94048921G>A" "" "VUS" ""
"0000349653" "0" "30" "1" "94514466" "94514466" "subst" "0.00192081" "02327" "ABCA4_000008" "g.94514466T>C" "" "" "" "ABCA4(NM_000350.2):c.2701A>G (p.T901A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94048910T>C" "" "likely benign" ""
"0000349666" "0" "90" "1" "94510272" "94510272" "subst" "4.06062E-6" "02327" "ABCA4_000070" "g.94510272T>C" "" "" "" "ABCA4(NM_000350.3):c.2947A>G (p.T983A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94044716T>C" "" "pathogenic" ""
"0000349796" "0" "90" "1" "94578567" "94578567" "subst" "4.06204E-6" "02327" "ABCA4_000247" "g.94578567C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94113011C>T" "" "pathogenic" ""
"0000349803" "0" "50" "1" "94544185" "94544185" "subst" "8.12137E-5" "02327" "ABCA4_000979" "g.94544185C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94078629C>G" "" "VUS" ""
"0000349861" "0" "90" "1" "94520690" "94520690" "subst" "2.03102E-5" "02327" "ABCA4_000149" "g.94520690C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94055134C>T" "" "pathogenic" ""
"0000350049" "0" "50" "1" "94546114" "94546114" "subst" "0" "02327" "ABCA4_000983" "g.94546114T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94080558T>C" "" "VUS" ""
"0000350050" "0" "50" "1" "94546115" "94546115" "subst" "0" "02327" "ABCA4_000984" "g.94546115A>G" "" "" "" "ABCA4(NM_000350.3):c.1018T>C (p.Y340H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94080559A>G" "" "VUS" ""
"0000350058" "0" "50" "1" "94546048" "94546048" "subst" "0" "02327" "ABCA4_000982" "g.94546048T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94080492T>C" "" "VUS" ""
"0000350294" "0" "30" "1" "94496039" "94496039" "subst" "0.00157963" "02327" "ABCA4_000552" "g.94496039C>T" "" "" "" "ABCA4(NM_000350.2):c.4297G>A (p.V1433I), ABCA4(NM_000350.3):c.4297G>A (p.V1433I, p.(Val1433Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94030483C>T" "" "likely benign" ""
"0000350340" "0" "50" "1" "94485278" "94485278" "subst" "0.000487317" "02327" "ABCA4_000101" "g.94485278C>T" "" "" "" "ABCA4(NM_000350.3):c.5056G>A (p.V1686M, p.(Val1686Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94019722C>T" "" "VUS" ""
"0000350377" "0" "90" "1" "94473278" "94473278" "del" "3.25908E-5" "02327" "ABCA4_000392" "g.94473278del" "" "" "" "ABCA4(NM_000350.3):c.5917delG (p.V1973*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94007722del" "" "pathogenic" ""
"0000350379" "0" "70" "1" "94471115" "94471115" "subst" "0" "02327" "ABCA4_000956" "g.94471115A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94005559A>C" "" "likely pathogenic" ""
"0000350384" "0" "30" "1" "94467548" "94467548" "subst" "0.00295661" "02327" "ABCA4_000788" "g.94467548C>G" "" "" "" "ABCA4(NM_000350.2):c.6148G>C (p.V2050L), ABCA4(NM_000350.3):c.6148G>C (p.V2050L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94001992C>G" "" "likely benign" ""
"0000350621" "0" "30" "1" "94528142" "94528142" "subst" "0.00153303" "02327" "ABCA4_000125" "g.94528142A>C" "" "" "" "ABCA4(NM_000350.2):c.1928T>G (p.V643G), ABCA4(NM_000350.3):c.1928T>G (p.V643G, p.(Val643Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94062586A>C" "" "likely benign" ""
"0000350629" "0" "90" "1" "94526230" "94526230" "subst" "7.32136E-5" "02327" "ABCA4_000760" "g.94526230C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94060674C>T" "" "pathogenic" ""
"0000350656" "0" "70" "1" "94522239" "94522239" "subst" "2.03305E-5" "02327" "ABCA4_000736" "g.94522239A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94056683A>T" "" "likely pathogenic" ""
"0000350676" "0" "50" "1" "94520708" "94520708" "subst" "0.00102774" "02327" "ABCA4_000074" "g.94520708A>G" "" "" "" "ABCA4(NM_000350.3):c.2546T>C (p.V849A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94055152A>G" "" "VUS" ""
"0000351450" "0" "90" "1" "94476351" "94476351" "subst" "0.000296608" "02327" "ABCA4_000996" "g.94476351C>T" "" "" "" "ABCA4(NM_000350.2):c.5714+5G>A, ABCA4(NM_000350.3):c.5714+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94010795C>T" "" "pathogenic" ""
"0000351451" "0" "50" "1" "94476812" "94476812" "subst" "0" "02327" "ABCA4_000048" "g.94476812A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94011256A>G" "" "VUS" ""
"0000351452" "0" "50" "1" "94476949" "94476949" "subst" "0" "02327" "ABCA4_000961" "g.94476949A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94011393A>C" "" "VUS" ""
"0000351453" "0" "90" "1" "94480248" "94480248" "subst" "0" "02327" "ABCA4_000962" "g.94480248T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94014692T>G" "" "pathogenic" ""
"0000351454" "0" "90" "1" "94485137" "94485137" "subst" "0" "02327" "ABCA4_000464" "g.94485137C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94019581C>T" "" "pathogenic" ""
"0000351456" "0" "90" "1" "94487401" "94487401" "subst" "4.06085E-6" "02327" "ABCA4_000995" "g.94487401C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94021845C>T" "" "pathogenic" ""
"0000351457" "0" "10" "1" "94492972" "94492972" "subst" "0" "02327" "ABCA4_000902" "g.94492972G>C" "" "" "" "ABCA4(NM_000350.2):c.4539+2029C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94027416G>C" "" "benign" ""
"0000351458" "0" "90" "1" "94495983" "94495983" "subst" "8.12348E-6" "02327" "ABCA4_000547" "g.94495983C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94030427C>T" "" "pathogenic" ""
"0000351459" "0" "90" "1" "94496666" "94496666" "subst" "0.000219568" "02327" "ABCA4_000019" "g.94496666G>A" "" "" "" "ABCA4(NM_000350.3):c.4139C>T (p.P1380L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94031110G>A" "" "pathogenic" ""
"0000351460" "0" "50" "1" "94502293" "94502293" "subst" "0" "02327" "ABCA4_000588" "g.94502293T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94036737T>C" "" "VUS" ""
"0000351461" "0" "70" "1" "94522153" "94522153" "subst" "0" "02327" "ABCA4_000974" "g.94522153T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94056597T>C" "" "likely pathogenic" ""
"0000351462" "0" "90" "1" "94526316" "94526316" "subst" "4.25152E-6" "02327" "ABCA4_000118" "g.94526316C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94060760C>T" "" "pathogenic" ""
"0000351463" "0" "50" "1" "94528120" "94528120" "subst" "0" "02327" "ABCA4_000976" "g.94528120A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94062564A>C" "" "VUS" ""
"0000351464" "0" "70" "1" "94528713" "94528713" "subst" "4.87381E-5" "02327" "ABCA4_000072" "g.94528713C>T" "" "" "" "ABCA4(NM_000350.2):c.1715G>A (p.R572Q), ABCA4(NM_000350.3):c.1715G>A (p.R572Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94063157C>T" "" "likely pathogenic" ""
"0000351465" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "02327" "ABCA4_000045" "g.94564350C>A" "" "" "" "ABCA4(NM_000350.2):c.768G>T (p.V256=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic" ""
"0000351738" "3" "90" "1" "94480179" "94480179" "subst" "0" "02383" "ABCA4_000991" "g.94480179C>G" "" "{PMID:Garces 2018:29847635}, {DOI:Garces 2018:10.1167/iovs.17-23364}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94014623C>G" "" "pathogenic" ""
"0000352699" "0" "97" "1" "94473807" "94473807" "subst" "0.00480453" "02383" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Garces 2018:29847635}, {DOI:Garces 2018:10.1167/iovs.17-23364}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic" ""
"0000352700" "0" "97" "1" "94577082" "94577082" "subst" "2.84315E-5" "02383" "ABCA4_000232" "g.94577082C>T" "" "{PMID:Garces 2018:29847635}, {DOI:Garces 2018:10.1167/iovs.17-23364}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94111526C>T" "" "pathogenic" ""
"0000352701" "0" "97" "1" "94473807" "94473807" "subst" "0.00480453" "02383" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Garces 2018:29847635}, {DOI:Garces 2018:10.1167/iovs.17-23364}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic" ""
"0000352702" "0" "97" "1" "94577082" "94577082" "subst" "2.84315E-5" "02383" "ABCA4_000232" "g.94577082C>T" "" "{PMID:Garces 2018:29847635}, {DOI:Garces 2018:10.1167/iovs.17-23364}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94111526C>T" "" "pathogenic" ""
"0000352703" "0" "97" "1" "94473807" "94473807" "subst" "0.00480453" "02383" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Garces 2018:29847635}, {DOI:Garces 2018:10.1167/iovs.17-23364}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic" ""
"0000352704" "0" "90" "1" "94577083" "94577083" "dup" "0" "02383" "ABCA4_000993" "g.94577083dup" "" "{PMID:Garces 2018:29847635}, {DOI:Garces 2018:10.1167/iovs.17-23364}" "" "213dupG" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94111527dup" "" "pathogenic" ""
"0000352715" "0" "97" "1" "94467467" "94467467" "subst" "4.06164E-6" "02383" "ABCA4_000780" "g.94467467G>A" "" "{PMID:Garces 2018:29847635}, {DOI:Garces 2018:10.1167/iovs.17-23364}" "" "" "no variant found on 2nd chromosome" "Germline/De novo (untested)" "" "" "0" "" "" "g.94001911G>A" "" "pathogenic" ""
"0000352717" "0" "97" "1" "94528806" "94528806" "subst" "0.000150298" "02383" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Garces 2018:29847635}, {DOI:Garces 2018:10.1167/iovs.17-23364}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94063250A>G" "" "pathogenic" ""
"0000352718" "0" "97" "1" "94508969" "94508969" "subst" "0.00168642" "02383" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Garces 2018:29847635}, {DOI:Garces 2018:10.1167/iovs.17-23364}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic" ""
"0000352719" "0" "97" "1" "94508373" "94508373" "subst" "0" "02383" "ABCA4_000639" "g.94508373C>T" "" "{PMID:Garces 2018:29847635}, {DOI:Garces 2018:10.1167/iovs.17-23364}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94042817C>T" "" "pathogenic" ""
"0000352720" "0" "97" "1" "94476351" "94476351" "subst" "0.000296608" "02383" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Garces 2018:29847635}, {DOI:Garces 2018:10.1167/iovs.17-23364}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94010795C>T" "" "pathogenic" ""
"0000352721" "0" "99" "1" "94476951" "94476951" "subst" "0.000236097" "02383" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Garces 2018:29847635}, {DOI:Garces 2018:10.1167/iovs.17-23364}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic" ""
"0000352722" "0" "97" "1" "94471065" "94471065" "subst" "0.000194997" "02383" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Garces 2018:29847635}, {DOI:Garces 2018:10.1167/iovs.17-23364}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94005509G>A" "" "pathogenic" ""
"0000352770" "0" "90" "1" "94546033" "94546033" "subst" "0" "02383" "ABCA4_000992" "g.94546033C>G" "" "{PMID:Garces 2018:29847635}, {DOI:Garces 2018:10.1167/iovs.17-23364}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94080477C>G" "" "pathogenic" ""
"0000352771" "0" "97" "1" "94544159" "94544159" "subst" "2.03079E-5" "02383" "ABCA4_000063" "g.94544159A>T" "" "{PMID:Garces 2018:29847635}, {DOI:Garces 2018:10.1167/iovs.17-23364}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94078603A>T" "" "pathogenic" ""
"0000352772" "0" "97" "1" "94497393" "94497393" "subst" "2.04188E-5" "02383" "ABCA4_000578" "g.94497393C>T" "" "{PMID:Garces 2018:29847635}, {DOI:Garces 2018:10.1167/iovs.17-23364}" "" "" "no variant found on 2nd chromosome" "Germline/De novo (untested)" "" "" "0" "" "" "g.94031837C>T" "" "pathogenic" ""
"0000353740" "0" "55" "1" "94528774" "94528774" "subst" "0.00264827" "02383" "ABCA4_000298" "g.94528774C>T" "" "{PMID:Garces 2018:29847635}, {DOI:Garces 2018:10.1167/iovs.17-23364}" "" "" "" "Germline" "" "" "0" "" "" "g.94063218C>T" "" "VUS" ""
"0000358104" "3" "70" "1" "94463583" "94463583" "subst" "8.12183E-6" "01243" "ABCA4_000806" "g.94463583A>G" "" "Sharon, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.93998027A>G" "" "likely pathogenic" ""
"0000358105" "21" "70" "1" "94463583" "94463583" "subst" "8.12183E-6" "01243" "ABCA4_000806" "g.94463583A>G" "" "Sharon, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.93998027A>G" "" "likely pathogenic" ""
"0000358106" "11" "70" "1" "94463583" "94463583" "subst" "8.12183E-6" "01243" "ABCA4_000806" "g.94463583A>G" "" "Sharon, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.93998027A>G" "" "likely pathogenic" ""
"0000358107" "0" "70" "1" "94466558" "94466558" "subst" "0" "01243" "ABCA4_001011" "g.94466558C>T" "" "Sharon, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.94001002C>T" "" "likely pathogenic" ""
"0000358108" "0" "90" "1" "94471067" "94471067" "del" "0" "01243" "ABCA4_001012" "g.94471067del" "" "Sharon, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.94005511del" "" "pathogenic" ""
"0000358109" "0" "90" "1" "94471067" "94471067" "del" "0" "01243" "ABCA4_001012" "g.94471067del" "" "Sharon, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.94005511del" "" "pathogenic" ""
"0000358110" "3" "70" "1" "94473266" "94473266" "subst" "8.14677E-6" "01243" "ABCA4_000389" "g.94473266C>T" "" "Sharon, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.94007710C>T" "" "likely pathogenic" ""
"0000358111" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01243" "ABCA4_000046" "g.94473807C>T" "" "Sharon, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000358112" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01243" "ABCA4_000046" "g.94473807C>T" "" "Sharon, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000358113" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01243" "ABCA4_000046" "g.94473807C>T" "" "Sharon, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000358114" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01243" "ABCA4_000046" "g.94473807C>T" "" "Sharon, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000358115" "3" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01243" "ABCA4_000046" "g.94473807C>T" "" "Sharon, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000358116" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01243" "ABCA4_000046" "g.94473807C>T" "" "Sharon, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000358117" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01243" "ABCA4_000046" "g.94473807C>T" "" "Sharon, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000358118" "3" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01243" "ABCA4_000046" "g.94473807C>T" "" "Sharon, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000358119" "3" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01243" "ABCA4_000046" "g.94473807C>T" "" "Sharon, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000358120" "21" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01243" "ABCA4_000046" "g.94473807C>T" "" "Sharon, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000358121" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01243" "ABCA4_000046" "g.94473807C>T" "" "Sharon, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000358122" "1" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01243" "ABCA4_000046" "g.94473807C>T" "" "Sharon, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000358123" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01243" "ABCA4_000046" "g.94473807C>T" "" "Sharon, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000358124" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01243" "ABCA4_000046" "g.94473807C>T" "" "Sharon, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000358125" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01243" "ABCA4_000046" "g.94473807C>T" "" "Sharon, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000358126" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01243" "ABCA4_000046" "g.94473807C>T" "" "Sharon, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000358127" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01243" "ABCA4_000046" "g.94473807C>T" "" "Sharon, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000358128" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01243" "ABCA4_000996" "g.94476351C>T" "" "Sharon, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic" ""
"0000358129" "3" "90" "1" "94480179" "94480179" "subst" "0" "01243" "ABCA4_000991" "g.94480179C>G" "" "Sharon, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.94014623C>G" "" "pathogenic" ""
"0000358130" "0" "70" "1" "94480208" "94480208" "subst" "8.12275E-6" "01243" "ABCA4_001013" "g.94480208A>C" "" "Sharon, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.94014652A>C" "" "likely pathogenic" ""
"0000358131" "3" "90" "1" "94480224" "94480227" "del" "0" "01243" "ABCA4_001014" "g.94480224_94480227del" "" "Sharon, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.94014668_94014671del" "" "pathogenic" ""
"0000358132" "0" "70" "1" "94480241" "94480241" "subst" "7.71705E-5" "01243" "ABCA4_000446" "g.94480241G>A" "" "Sharon, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.94014685G>A" "" "likely pathogenic" ""
"0000358133" "0" "90" "1" "94481294" "94481294" "subst" "0" "01243" "ABCA4_000110" "g.94481294C>T" "" "Sharon, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.94015738C>T" "" "pathogenic" ""
"0000358134" "0" "90" "1" "94485165" "94485165" "subst" "0" "01243" "ABCA4_001016" "g.94485165G>C" "" "Sharon, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.94019609G>C" "" "pathogenic" ""
"0000358135" "3" "90" "1" "94485275" "94485275" "del" "0" "01243" "ABCA4_001017" "g.94485275del" "" "Sharon, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.94019719del" "" "pathogenic" ""
"0000358136" "1" "70" "1" "94486835" "94486835" "subst" "0" "01243" "ABCA4_001018" "g.94486835G>A" "" "Sharon, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.94021279G>A" "" "likely pathogenic" ""
"0000358137" "0" "70" "1" "94486835" "94486835" "subst" "0" "01243" "ABCA4_001018" "g.94486835G>A" "" "Sharon, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.94021279G>A" "" "likely pathogenic" ""
"0000358138" "3" "70" "1" "94486835" "94486835" "subst" "0" "01243" "ABCA4_001018" "g.94486835G>A" "" "Sharon, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.94021279G>A" "" "likely pathogenic" ""
"0000358139" "0" "70" "1" "94486895" "94486895" "subst" "3.24923E-5" "01243" "ABCA4_000484" "g.94486895C>T" "" "Sharon, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.94021339C>T" "" "likely pathogenic" ""
"0000358140" "3" "70" "1" "94486895" "94486895" "subst" "3.24923E-5" "01243" "ABCA4_000484" "g.94486895C>T" "" "Sharon, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.94021339C>T" "" "likely pathogenic" ""
"0000358141" "3" "70" "1" "94490567" "94490567" "subst" "5.68528E-5" "01243" "ABCA4_000026" "g.94490567G>A" "" "Sharon, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.94025011G>A" "" "likely pathogenic" ""
"0000358142" "3" "90" "1" "94495002" "94495002" "dup" "0" "01243" "ABCA4_000087" "g.94495002dup" "" "Sharon, submitted" "" "" "Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000358143" "3" "70" "1" "94495083" "94495083" "subst" "0.000124542" "01243" "ABCA4_000542" "g.94495083G>A" "" "Sharon, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.94029527G>A" "" "likely pathogenic" ""
"0000358144" "0" "70" "1" "94495083" "94495083" "subst" "0.000124542" "01243" "ABCA4_000542" "g.94495083G>A" "" "Sharon, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.94029527G>A" "" "likely pathogenic" ""
"0000358145" "1" "90" "1" "94496075" "94496097" "del" "0" "01243" "ABCA4_001020" "g.94496075_94496097del" "" "Sharon, submitted" "" "" "Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000358146" "3" "90" "1" "94496075" "94496097" "del" "0" "01243" "ABCA4_001020" "g.94496075_94496097del" "" "Sharon, submitted" "" "" "Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000358147" "3" "90" "1" "94496666" "94496666" "subst" "0.000219568" "01243" "ABCA4_000019" "g.94496666G>A" "" "Sharon, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.94031110G>A" "" "pathogenic" ""
"0000358148" "0" "90" "1" "94496666" "94496666" "subst" "0.000219568" "01243" "ABCA4_000019" "g.94496666G>A" "" "Sharon, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.94031110G>A" "" "pathogenic" ""
"0000358149" "3" "70" "1" "94502906" "94502906" "subst" "0.000314086" "01243" "ABCA4_000605" "g.94502906C>T" "" "Sharon, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.94037350C>T" "" "likely pathogenic" ""
"0000358150" "3" "90" "1" "94510164" "94510164" "subst" "1.62441E-5" "01243" "ABCA4_000144" "g.94510164C>T" "" "Sharon, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.94044608C>T" "" "pathogenic" ""
"0000358151" "3" "70" "1" "94512499" "94512499" "subst" "0.000130029" "01243" "ABCA4_000072" "g.94512499T>C" "" "Sharon, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.94046943T>C" "" "likely pathogenic" ""
"0000358152" "0" "70" "1" "94512602" "94512602" "subst" "0.000369717" "01243" "ABCA4_000052" "g.94512602C>T" "" "Sharon, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.94047046C>T" "" "likely pathogenic" ""
"0000358153" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01243" "ABCA4_000034" "g.94517254C>G" "" "Sharon, submitted" "" "" "" "Germline" "" "rs76157638" "0" "" "" "g.94051698C>G" "" "likely pathogenic" ""
"0000358154" "3" "70" "1" "94522245" "94522245" "subst" "0" "01243" "ABCA4_000740" "g.94522245C>T" "" "Sharon, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.94056689C>T" "" "likely pathogenic" ""
"0000358155" "3" "90" "1" "94544947" "94544947" "del" "0" "01243" "ABCA4_001021" "g.94544947del" "" "Sharon, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.94079391del" "" "pathogenic" ""
"0000358156" "3" "90" "1" "94548931" "94548931" "del" "0" "01243" "ABCA4_001022" "g.94548931del" "" "Sharon, submitted" "" "" "Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000358157" "3" "90" "1" "94564484" "94564484" "subst" "0.000110199" "01243" "ABCA4_000036" "g.94564484G>A" "" "Sharon, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.94098928G>A" "" "pathogenic" ""
"0000358158" "3" "90" "1" "94480098" "94480098" "subst" "0" "01243" "ABCA4_000437" "g.94480098C>T" "" "Sharon, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.94014542C>T" "" "pathogenic" ""
"0000358159" "21" "90" "1" "94480098" "94480098" "subst" "0" "01243" "ABCA4_000437" "g.94480098C>T" "" "Sharon, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.94014542C>T" "" "pathogenic" ""
"0000358379" "11" "90" "1" "94480179" "94480179" "subst" "0" "01243" "ABCA4_000991" "g.94480179C>G" "" "Sharon, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.94014623C>G" "" "pathogenic" ""
"0000358380" "21" "90" "1" "94480179" "94480179" "subst" "0" "01243" "ABCA4_000991" "g.94480179C>G" "" "Sharon, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.94014623C>G" "" "pathogenic" ""
"0000358381" "0" "90" "1" "94496666" "94496666" "subst" "0.000219568" "01243" "ABCA4_000019" "g.94496666G>A" "" "Sharon, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.94031110G>A" "" "pathogenic" ""
"0000358382" "0" "70" "1" "94487251" "94487251" "subst" "2.85679E-5" "01243" "ABCA4_000490" "g.94487251G>T" "" "Sharon, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.94021695G>T" "" "likely pathogenic" ""
"0000358383" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01243" "ABCA4_000046" "g.94473807C>T" "" "Sharon, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000358384" "0" "90" "1" "94564484" "94564484" "subst" "0.000110199" "01243" "ABCA4_000036" "g.94564484G>A" "" "Sharon, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.94098928G>A" "" "pathogenic" ""
"0000358385" "0" "70" "1" "94509026" "94509026" "subst" "4.06497E-5" "01243" "ABCA4_000660" "g.94509026G>A" "" "Sharon, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.94043470G>A" "" "likely pathogenic" ""
"0000358386" "0" "90" "1" "94528806" "94528806" "subst" "0.000150298" "01243" "ABCA4_000020" "g.94528806A>G" "" "Sharon, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.94063250A>G" "" "pathogenic" ""
"0000358387" "0" "90" "1" "94496666" "94496666" "subst" "0.000219568" "01243" "ABCA4_000019" "g.94496666G>A" "" "Sharon, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.94031110G>A" "" "pathogenic" ""
"0000358388" "0" "90" "1" "94486920" "94486920" "dup" "0" "01243" "ABCA4_001019" "g.94486920dup" "" "Sharon, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.94021364dup" "" "pathogenic" ""
"0000358389" "0" "90" "1" "94496666" "94496666" "subst" "0.000219568" "01243" "ABCA4_000019" "g.94496666G>A" "" "Sharon, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.94031110G>A" "" "pathogenic" ""
"0000358390" "11" "70" "1" "94486895" "94486895" "subst" "3.24923E-5" "01243" "ABCA4_000484" "g.94486895C>T" "" "Sharon, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.94021339C>T" "" "likely pathogenic" ""
"0000358391" "0" "90" "1" "94485275" "94485275" "del" "0" "01243" "ABCA4_001017" "g.94485275del" "" "Sharon, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.94019719del" "" "pathogenic" ""
"0000358392" "21" "90" "1" "94510164" "94510164" "subst" "1.62441E-5" "01243" "ABCA4_000144" "g.94510164C>T" "" "Sharon, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.94044608C>T" "" "pathogenic" ""
"0000358393" "0" "70" "1" "94528224" "94528224" "subst" "0" "01243" "ABCA4_000275" "g.94528224C>T" "" "Sharon, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.94062668C>T" "" "likely pathogenic" ""
"0000358394" "0" "70" "1" "94474320" "94474320" "subst" "4.06065E-6" "01243" "ABCA4_000407" "g.94474320T>G" "" "Sharon, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.94008764T>G" "" "likely pathogenic" ""
"0000358395" "0" "90" "1" "94485145" "94485145" "subst" "0" "01243" "ABCA4_001015" "g.94485145C>T" "" "Sharon, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.94019589C>T" "" "pathogenic" ""
"0000358396" "0" "70" "1" "94490550" "94490550" "subst" "0.000105588" "01243" "ABCA4_000523" "g.94490550C>T" "" "Sharon, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.94024994C>T" "" "likely pathogenic" ""
"0000358397" "0" "90" "1" "94586601" "94586601" "subst" "8.12156E-6" "01243" "ABCA4_000264" "g.94586601T>C" "" "Sharon, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.94121045T>C" "" "pathogenic" ""
"0000358398" "0" "70" "1" "94495083" "94495083" "subst" "0.000124542" "01243" "ABCA4_000542" "g.94495083G>A" "" "Sharon, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.94029527G>A" "" "likely pathogenic" ""
"0000358399" "0" "90" "1" "94485275" "94485275" "del" "0" "01243" "ABCA4_001017" "g.94485275del" "" "Sharon, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.94019719del" "" "pathogenic" ""
"0000358400" "0" "70" "1" "94486895" "94486895" "subst" "3.24923E-5" "01243" "ABCA4_000484" "g.94486895C>T" "" "Sharon, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.94021339C>T" "" "likely pathogenic" ""
"0000358401" "0" "90" "1" "94528806" "94528806" "subst" "0.000150298" "01243" "ABCA4_000020" "g.94528806A>G" "" "Sharon, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.94063250A>G" "" "pathogenic" ""
"0000358402" "0" "70" "1" "94495083" "94495083" "subst" "0.000124542" "01243" "ABCA4_000542" "g.94495083G>A" "" "Sharon, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.94029527G>A" "" "likely pathogenic" ""
"0000358403" "2" "90" "1" "94496075" "94496097" "del" "0" "01243" "ABCA4_001020" "g.94496075_94496097del" "" "Sharon, submitted" "" "" "Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000358404" "0" "70" "1" "94512499" "94512499" "subst" "0.000130029" "01243" "ABCA4_000072" "g.94512499T>C" "" "Sharon, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.94046943T>C" "" "likely pathogenic" ""
"0000358405" "0" "70" "1" "94543389" "94543389" "subst" "0.000861235" "01243" "ABCA4_000312" "g.94543389C>T" "" "Sharon, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.94077833C>T" "" "likely pathogenic" ""
"0000358406" "2" "90" "1" "94506838" "94506840" "del" "0" "01243" "ABCA4_000615" "g.94506838_94506840del" "" "Sharon, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.94041282_94041284del" "" "pathogenic" ""
"0000358407" "0" "70" "1" "94508323" "94508323" "subst" "0.000125953" "01243" "ABCA4_000031" "g.94508323G>A" "" "Sharon, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.94042767G>A" "" "likely pathogenic" ""
"0000358408" "0" "90" "1" "94528806" "94528806" "subst" "0.000150298" "01243" "ABCA4_000020" "g.94528806A>G" "" "Sharon, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.94063250A>G" "" "pathogenic" ""
"0000358409" "0" "70" "1" "94543389" "94543389" "subst" "0.000861235" "01243" "ABCA4_000312" "g.94543389C>T" "" "Sharon, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.94077833C>T" "" "likely pathogenic" ""
"0000358410" "11" "70" "1" "94568689" "94568689" "subst" "0" "01243" "ABCA4_001023" "g.94568689A>G" "" "Sharon, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.94103133A>G" "" "likely pathogenic" ""
"0000368458" "0" "90" "1" "94528806" "94528806" "subst" "0.000150298" "00717" "ABCA4_000020" "g.94528806A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.94063250A>G" "" "pathogenic" ""
"0000368459" "0" "97" "1" "94508969" "94508969" "subst" "0.00168642" "00717" "ABCA4_000021" "g.94508969G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic" ""
"0000368460" "0" "70" "1" "94496509" "94496509" "subst" "0.00475243" "00717" "ABCA4_001024" "g.94496509C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.94030953C>T" "" "likely pathogenic" ""
"0000368461" "0" "30" "1" "94471747" "94471747" "subst" "0" "00717" "ABCA4_000882" "g.94471747A>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.94006191A>T" "" "likely benign" ""
"0000369230" "1" "77" "1" "94546283" "94546283" "subst" "8.18311E-5" "00006" "ABCA4_000356" "g.94546283A>G" "" "{PMID:Sangermano 2018:29162642}" "" "" "" "Germline" "" "" "0" "" "" "g.94080727A>G" "" "likely pathogenic" ""
"0000369231" "2" "77" "1" "94574275" "94574275" "subst" "0" "00006" "ABCA4_001025" "g.94574275G>C" "" "{PMID:Sangermano 2018:29162642}" "" "" "" "Germline" "" "" "0" "" "" "g.94108719G>C" "" "likely pathogenic" ""
"0000369232" "1" "77" "1" "94578619" "94578619" "subst" "2.85088E-5" "00006" "ABCA4_000253" "g.94578619G>A" "" "{PMID:Sangermano 2018:29162642}" "" "" "" "Germline" "" "" "0" "" "" "g.94113063G>A" "" "likely pathogenic" ""
"0000369233" "2" "77" "1" "94528120" "94528120" "subst" "0" "00006" "ABCA4_000976" "g.94528120A>C" "" "{PMID:Sangermano 2018:29162642}" "" "" "" "Germline" "" "" "0" "" "" "g.94062564A>C" "" "likely pathogenic" ""
"0000369234" "3" "90" "1" "94476949" "94476949" "subst" "0" "00006" "ABCA4_000961" "g.94476949A>C" "" "{PMID:Sangermano 2018:29162642}" "" "" "" "Germline" "" "" "0" "" "" "g.94011393A>C" "" "likely pathogenic" ""
"0000392081" "21" "97" "1" "94496547" "94496547" "subst" "1.21904E-5" "00244" "ABCA4_000560" "g.94496547C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.94030991C>T" "" "pathogenic" ""
"0000392082" "10" "70" "1" "94473791" "94473791" "subst" "0" "00244" "ABCA4_001026" "g.94473791C>T" "" "" "" "" "last base of the exon 42, predicted to disrupt splice donor site" "Germline" "yes" "" "0" "" "" "g.94008235C>T" "" "likely pathogenic" ""
"0000392084" "11" "55" "1" "94568675" "94568675" "subst" "0.00146249" "00244" "ABCA4_000210" "g.94568675T>C" "" "" "" "" "" "Germline" "?" "" "0" "" "" "g.94103119T>C" "" "VUS" ""
"0000392086" "0" "55" "1" "94467548" "94467548" "subst" "0.00295661" "00244" "ABCA4_000788" "g.94467548C>G" "" "" "" "" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94001992C>G" "" "VUS" ""
"0000405595" "0" "70" "1" "94578524" "94578524" "subst" "0" "01251" "ABCA4_000068" "g.94578524C>G" "" "{PMID:Sangermano 2018:29162642}" "" "" "expression cloning midigene splicing construct: 0.343 correctly spliced RNA" "In vitro (cloned)" "-" "" "0" "" "" "g.94112968C>G" "" "NA" ""
"0000405596" "0" "90" "1" "94577135" "94577135" "subst" "4.06197E-6" "01251" "ABCA4_000241" "g.94577135C>A" "" "{PMID:Sangermano 2018:29162642}" "" "" "expression cloning midigene splicing construct: no correctly spliced RNA" "In vitro (cloned)" "-" "" "0" "" "" "g.94111579C>A" "" "NA" ""
"0000405597" "0" "90" "1" "94576990" "94576990" "subst" "0" "01251" "ABCA4_000221" "g.94576990T>G" "" "{PMID:Sangermano 2018:29162642}" "" "" "expression cloning midigene splicing construct: no correctly spliced RNA" "In vitro (cloned)" "-" "" "0" "" "" "g.94111434T>G" "" "NA" ""
"0000405598" "0" "90" "1" "94574275" "94574275" "subst" "0" "01251" "ABCA4_001025" "g.94574275G>C" "" "{PMID:Sangermano 2018:29162642}" "" "" "expression cloning midigene splicing construct: no correctly spliced RNA" "In vitro (cloned)" "-" "" "0" "" "" "g.94108719G>C" "" "NA" ""
"0000405599" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01251" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Sangermano 2018:29162642}" "" "" "expression cloning midigene splicing construct: no correctly spliced RNA" "In vitro (cloned)" "-" "" "0" "" "" "g.94098794C>A" "" "NA" ""
"0000405600" "0" "30" "1" "94546283" "94546283" "subst" "8.18311E-5" "01251" "ABCA4_000356" "g.94546283A>G" "" "{PMID:Sangermano 2018:29162642}" "" "" "expression cloning midigene splicing construct: 0.757 correctly spliced RNA" "In vitro (cloned)" "-" "" "0" "" "" "g.94080727A>G" "" "NA" ""
"0000405601" "0" "90" "1" "94545023" "94545023" "subst" "4.06299E-6" "01251" "ABCA4_000334" "g.94545023A>T" "" "{PMID:Sangermano 2018:29162642}" "" "" "expression cloning midigene splicing construct: no correctly spliced RNA" "In vitro (cloned)" "-" "" "0" "" "" "g.94079467A>T" "" "NA" ""
"0000405602" "0" "90" "1" "94528120" "94528120" "subst" "0" "01251" "ABCA4_000976" "g.94528120A>C" "" "{PMID:Sangermano 2018:29162642}" "" "" "expression cloning midigene splicing construct: 0.14 correctly spliced RNA" "In vitro (cloned)" "-" "" "0" "" "" "g.94062564A>C" "" "NA" ""
"0000405603" "0" "70" "1" "94522152" "94522152" "subst" "0" "01251" "ABCA4_000731" "g.94522152C>G" "" "{PMID:Sangermano 2018:29162642}" "" "" "expression cloning midigene splicing construct: 0.479 correctly spliced RNA" "In vitro (cloned)" "-" "" "0" "" "" "g.94056596C>G" "" "NA" ""
"0000405604" "0" "30" "1" "94517254" "94517254" "subst" "0.00442654" "01251" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Sangermano 2018:29162642}" "" "" "expression cloning midigene splicing construct: 0.60 correctly spliced RNA" "In vitro (cloned)" "-" "rs76157638" "0" "" "" "g.94051698C>G" "" "NA" ""
"0000405605" "0" "70" "1" "94510310" "94510310" "subst" "4.06088E-6" "01251" "ABCA4_001027" "g.94510310A>G" "" "{PMID:Sangermano 2018:29162642}" "" "" "expression cloning midigene splicing construct: 0.611 correctly spliced RNA" "In vitro (cloned)" "-" "" "0" "" "" "g.94044754A>G" "" "NA" ""
"0000405606" "0" "30" "1" "94510306" "94510306" "subst" "0" "01251" "ABCA4_000677" "g.94510306G>T" "" "{PMID:Sangermano 2018:29162642}" "" "" "expression cloning midigene splicing construct: 0.796 correctly spliced RNA" "In vitro (cloned)" "-" "" "0" "" "" "g.94044750G>T" "" "NA" ""
"0000405607" "0" "90" "1" "94510164" "94510164" "subst" "1.62441E-5" "01251" "ABCA4_000144" "g.94510164C>T" "" "{PMID:Sangermano 2018:29162642}" "" "" "expression cloning midigene splicing construct: no correctly spliced RNA" "In vitro (cloned)" "-" "" "0" "" "" "g.94044608C>T" "" "NA" ""
"0000405608" "0" "70" "1" "94506761" "94506761" "del" "0" "01251" "ABCA4_000613" "g.94506761del" "" "{PMID:Sangermano 2018:29162642}" "" "" "expression cloning midigene splicing construct: 0.530 correctly spliced RNA" "In vitro (cloned)" "-" "" "0" "" "" "g.94041205del" "" "NA" ""
"0000405609" "0" "90" "1" "94505599" "94505599" "subst" "0" "01251" "ABCA4_000152" "g.94505599C>T" "" "{PMID:Sangermano 2018:29162642}" "" "" "expression cloning midigene splicing construct: 0.109 correctly spliced RNA" "In vitro (cloned)" "-" "" "0" "" "" "g.94040043C>T" "" "NA" ""
"0000405610" "0" "90" "1" "94505596" "94505596" "subst" "0" "01251" "ABCA4_000606" "g.94505596T>A" "" "{PMID:Sangermano 2018:29162642}" "" "" "expression cloning midigene splicing construct: no correctly spliced RNA" "In vitro (cloned)" "-" "" "0" "" "" "g.94040040T>A" "" "NA" ""
"0000405611" "0" "90" "1" "94502702" "94502702" "subst" "0" "01251" "ABCA4_000595" "g.94502702T>C" "" "{PMID:Sangermano 2018:29162642}" "" "" "expression cloning midigene splicing construct: no correctly spliced RNA" "In vitro (cloned)" "-" "" "0" "" "" "g.94037146T>C" "" "NA" ""
"0000405612" "0" "90" "1" "94502701" "94502701" "subst" "0" "01251" "ABCA4_000594" "g.94502701C>G" "" "{PMID:Sangermano 2018:29162642}" "" "" "expression cloning midigene splicing construct: no correctly spliced RNA" "In vitro (cloned)" "-" "" "0" "" "" "g.94037145C>G" "" "NA" ""
"0000405613" "0" "70" "1" "94502293" "94502293" "subst" "0" "01251" "ABCA4_000588" "g.94502293T>C" "" "{PMID:Sangermano 2018:29162642}" "" "" "expression cloning midigene splicing construct: 0.534 correctly spliced RNA" "In vitro (cloned)" "-" "" "0" "" "" "g.94036737T>C" "" "NA" ""
"0000405614" "0" "90" "1" "94497334" "94497334" "subst" "0" "01251" "ABCA4_000574" "g.94497334C>T" "" "{PMID:Sangermano 2018:29162642}" "" "" "expression cloning midigene splicing construct: no correctly spliced RNA" "In vitro (cloned)" "-" "" "0" "" "" "g.94031778C>T" "" "NA" ""
"0000405615" "0" "90" "1" "94496548" "94496548" "subst" "2.43787E-5" "01251" "ABCA4_000088" "g.94496548G>A" "" "{PMID:Sangermano 2018:29162642}" "" "" "expression cloning midigene splicing construct: 0.078 correctly spliced RNA" "In vitro (cloned)" "-" "" "0" "" "" "g.94030992G>A" "" "NA" ""
"0000405616" "0" "90" "1" "94496547" "94496547" "subst" "1.21904E-5" "01251" "ABCA4_000560" "g.94496547C>T" "" "{PMID:Sangermano 2018:29162642}" "" "" "expression cloning midigene splicing construct: no correctly spliced RNA" "In vitro (cloned)" "-" "" "0" "" "" "g.94030991C>T" "" "NA" ""
"0000405617" "0" "90" "1" "94496547" "94496547" "subst" "4.06345E-6" "01251" "ABCA4_000559" "g.94496547C>A" "" "{PMID:Sangermano 2018:29162642}" "" "" "expression cloning midigene splicing construct: 0.054 correctly spliced RNA" "In vitro (cloned)" "-" "" "0" "" "" "g.94030991C>A" "" "NA" ""
"0000405618" "0" "90" "1" "94495002" "94495002" "subst" "0" "01251" "ABCA4_000533" "g.94495002T>C" "" "{PMID:Sangermano 2018:29162642}" "" "" "expression cloning midigene splicing construct: no correctly spliced RNA" "In vitro (cloned)" "-" "" "0" "" "" "g.94029446T>C" "" "NA" ""
"0000405619" "0" "90" "1" "94495002" "94495002" "subst" "0" "01251" "ABCA4_000532" "g.94495002T>G" "" "{PMID:Sangermano 2018:29162642}" "" "" "expression cloning midigene splicing construct: 0.043 correctly spliced RNA" "In vitro (cloned)" "-" "" "0" "" "" "g.94029446T>G" "" "NA" ""
"0000405620" "0" "10" "1" "94490510" "94490510" "subst" "0" "01251" "ABCA4_000518" "g.94490510C>T" "" "{PMID:Sangermano 2018:29162642}" "" "" "expression cloning midigene splicing construct: only normal splicing" "In vitro (cloned)" "-" "" "0" "" "" "g.94024954C>T" "" "NA" ""
"0000405621" "0" "90" "1" "94488942" "94488942" "subst" "8.19309E-6" "01251" "ABCA4_000512" "g.94488942C>G" "" "{PMID:Sangermano 2018:29162642}" "" "" "expression cloning midigene splicing construct: no correctly spliced RNA" "In vitro (cloned)" "-" "" "0" "" "" "g.94023386C>G" "" "NA" ""
"0000405622" "0" "90" "1" "94487402" "94487402" "subst" "0" "01251" "ABCA4_000496" "g.94487402C>G" "" "{PMID:Sangermano 2018:29162642}" "" "" "expression cloning midigene splicing construct: no correctly spliced RNA" "In vitro (cloned)" "-" "" "0" "" "" "g.94021846C>G" "" "NA" ""
"0000405623" "0" "90" "1" "94487399" "94487399" "subst" "7.30959E-5" "01251" "ABCA4_000038" "g.94487399T>C" "" "{PMID:Sangermano 2018:29162642}" "" "" "expression cloning midigene splicing construct: 0.246 correctly spliced RNA" "In vitro (cloned)" "-" "" "0" "" "" "g.94021843T>C" "" "NA" ""
"0000405624" "0" "90" "1" "94487397" "94487397" "subst" "0" "01251" "ABCA4_000493" "g.94487397C>T" "" "{PMID:Sangermano 2018:29162642}" "" "" "expression cloning midigene splicing construct: 0.291 correctly spliced RNA" "In vitro (cloned)" "-" "" "0" "" "" "g.94021841C>T" "" "NA" ""
"0000405625" "0" "90" "1" "94485134" "94485137" "del" "0" "01251" "ABCA4_000462" "g.94485134_94485137del" "" "{PMID:Sangermano 2018:29162642}" "" "" "expression cloning midigene splicing construct: no correctly spliced RNA" "In vitro (cloned)" "-" "" "0" "" "" "g.94019578_94019581del" "" "NA" ""
"0000405626" "0" "10" "1" "94485132" "94485137" "del" "0" "01251" "ABCA4_000461" "g.94485132_94485137del" "" "{PMID:Sangermano 2018:29162642}" "" "" "expression cloning midigene splicing construct: only normal splicing" "In vitro (cloned)" "-" "" "0" "" "" "g.94019576_94019581del" "" "NA" ""
"0000405627" "0" "90" "1" "94481292" "94481292" "subst" "0" "01251" "ABCA4_000450" "g.94481292T>A" "" "{PMID:Sangermano 2018:29162642}" "" "" "expression cloning midigene splicing construct: no correctly spliced RNA" "In vitro (cloned)" "-" "" "0" "" "" "g.94015736T>A" "" "NA" ""
"0000405628" "0" "90" "1" "94480249" "94480249" "subst" "0" "01251" "ABCA4_000449" "g.94480249G>C" "" "{PMID:Sangermano 2018:29162642}" "" "" "expression cloning midigene splicing construct: no correctly spliced RNA" "In vitro (cloned)" "-" "" "0" "" "" "g.94014693G>C" "" "NA" ""
"0000405629" "0" "90" "1" "94480094" "94480094" "subst" "0" "01251" "ABCA4_000436" "g.94480094C>T" "" "{PMID:Sangermano 2018:29162642}" "" "" "expression cloning midigene splicing construct: no correctly spliced RNA" "In vitro (cloned)" "-" "" "0" "" "" "g.94014538C>T" "" "NA" ""
"0000405630" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01251" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Sangermano 2018:29162642}" "" "" "expression cloning midigene splicing construct: no correctly spliced RNA" "In vitro (cloned)" "-" "" "0" "" "" "g.94011395A>G" "" "NA" ""
"0000405631" "0" "90" "1" "94476949" "94476949" "subst" "0" "01251" "ABCA4_000961" "g.94476949A>C" "" "{PMID:Sangermano 2018:29162642}" "" "" "expression cloning midigene splicing construct: no correctly spliced RNA" "In vitro (cloned)" "-" "" "0" "" "" "g.94011393A>C" "" "NA" ""
"0000405632" "0" "90" "1" "94476818" "94476818" "subst" "0" "01251" "ABCA4_000162" "g.94476818C>G" "" "{PMID:Sangermano 2018:29162642}" "" "" "expression cloning midigene splicing construct: no correctly spliced RNA" "In vitro (cloned)" "-" "" "0" "" "" "g.94011262C>G" "" "NA" ""
"0000405633" "0" "90" "1" "94476813" "94476813" "subst" "0" "01251" "ABCA4_000426" "g.94476813C>T" "" "{PMID:Sangermano 2018:29162642}" "" "" "expression cloning midigene splicing construct: no correctly spliced RNA" "In vitro (cloned)" "-" "" "0" "" "" "g.94011257C>T" "" "NA" ""
"0000405634" "0" "90" "1" "94476812" "94476812" "subst" "0" "01251" "ABCA4_000048" "g.94476812A>G" "" "{PMID:Sangermano 2018:29162642}" "" "" "expression cloning midigene splicing construct: no correctly spliced RNA" "In vitro (cloned)" "-" "" "0" "" "" "g.94011256A>G" "" "NA" ""
"0000405635" "0" "10" "1" "94476495" "94476495" "subst" "0" "01251" "ABCA4_000424" "g.94476495A>G" "" "{PMID:Sangermano 2018:29162642}" "" "" "expression cloning midigene splicing construct: only normal splicing" "In vitro (cloned)" "-" "" "0" "" "" "g.94010939A>G" "" "NA" ""
"0000405636" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01251" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Sangermano 2018:29162642}" "" "" "expression cloning midigene splicing construct: 0.398 correctly spliced RNA" "In vitro (cloned)" "-" "" "0" "" "" "g.94010795C>T" "" "NA" ""
"0000405637" "0" "90" "1" "94473856" "94473856" "subst" "0" "01251" "ABCA4_000058" "g.94473856G>T" "" "{PMID:Sangermano 2018:29162642}" "" "" "expression cloning midigene splicing construct: no correctly spliced RNA" "In vitro (cloned)" "-" "" "0" "" "" "g.94008300G>T" "" "NA" ""
"0000405638" "0" "90" "1" "94473788" "94473788" "del" "0" "01251" "ABCA4_000398" "g.94473788del" "" "{PMID:Sangermano 2018:29162642}" "" "" "expression cloning midigene splicing construct: 0.045 correctly spliced RNA" "In vitro (cloned)" "-" "" "0" "" "" "g.94008232del" "" "NA" ""
"0000405639" "0" "70" "1" "94466393" "94466393" "subst" "0" "01251" "ABCA4_000816" "g.94466393T>C" "" "{PMID:Sangermano 2018:29162642}" "" "" "expression cloning midigene splicing construct: 0.552 correctly spliced RNA" "In vitro (cloned)" "-" "" "0" "" "" "g.94000837T>C" "" "NA" ""
"0000405640" "0" "90" "1" "94466388" "94466388" "subst" "0" "01251" "ABCA4_000811" "g.94466388T>C" "" "{PMID:Sangermano 2018:29162642}" "" "" "expression cloning midigene splicing construct: no correctly spliced RNA" "In vitro (cloned)" "-" "" "0" "" "" "g.94000832T>C" "" "NA" ""
"0000405641" "0" "90" "1" "94463399" "94463413" "del" "0" "01251" "ABCA4_000851" "g.94463399_94463413del" "" "{PMID:Sangermano 2018:29162642}" "" "" "expression cloning midigene splicing construct: no correctly spliced RNA" "In vitro (cloned)" "-" "" "0" "" "" "g.93997843_93997857del" "" "NA" ""
"0000408237" "11" "70" "1" "94586549" "94586549" "subst" "0" "02597" "ABCA4_001028" "g.94586549C>T" "" "{PMID:Nassisi 2018:30060493}" "" "" "" "Germline" "yes" "rs868543294" "0" "" "" "g.94120993C>T" "" "likely pathogenic (recessive)" ""
"0000408311" "21" "70" "1" "94564432" "94564432" "subst" "0" "02597" "ABCA4_001029" "g.94564432A>G" "" "{PMID:Nassisi 2018:30060493}" "" "" "" "Germline" "?" "" "0" "" "" "g.94098876A>G" "" "likely pathogenic (recessive)" ""
"0000408316" "21" "77" "1" "94473807" "94473807" "subst" "0.00480453" "02597" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Nassisi 2018:30060493}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000408317" "10" "53" "1" "94505604" "94505604" "subst" "0.00645586" "02597" "ABCA4_000092" "g.94505604A>C" "" "{PMID:Nassisi 2018:30060493}" "" "" "" "Germline" "" "" "0" "" "" "g.94040048A>C" "" "VUS" ""
"0000408318" "10" "70" "1" "94476449" "94476449" "subst" "0" "02597" "ABCA4_001030" "g.94476449A>G" "" "{PMID:Nassisi 2018:30060493}" "" "" "" "Germline" "" "" "0" "" "" "g.94010893A>G" "" "likely pathogenic (recessive)" ""
"0000408357" "21" "70" "1" "94564432" "94564432" "subst" "0" "02597" "ABCA4_001029" "g.94564432A>G" "" "{PMID:Nassisi 2018:30060493}" "" "" "" "Germline" "?" "" "0" "" "" "g.94098876A>G" "" "likely pathogenic" ""
"0000408358" "21" "30" "1" "94463617" "94463617" "subst" "0.0109114" "02597" "ABCA4_000013" "g.94463617C>T" "" "{PMID:Nassisi 2018:30060493}" "" "" "" "Germline" "?" "" "0" "" "" "g.93998061C>T" "{CV:7885}" "likely benign" ""
"0000408359" "10" "90" "1" "94473807" "94473807" "subst" "0.00480453" "02597" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Nassisi 2018:30060493}" "" "" "" "Germline" "?" "rs1800553" "0" "" "" "g.94008251C>T" "{CV:7888}" "pathogenic" ""
"0000408362" "3" "70" "1" "94546114" "94546114" "subst" "0" "02597" "ABCA4_000983" "g.94546114T>C" "" "{PMID:Nassisi 2018:30060493}" "" "" "" "Germline" "?" "" "0" "" "" "g.94080558T>C" "" "likely pathogenic" ""
"0000408365" "21" "70" "1" "94544916" "94544916" "subst" "0" "02597" "ABCA4_001033" "g.94544916T>G" "" "{PMID:Nassisi 2018:30060493}" "" "" "" "Germline" "?" "" "0" "" "" "g.94079360T>G" "" "likely pathogenic" ""
"0000408366" "11" "70" "1" "94517254" "94517254" "subst" "0.00442654" "02597" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Nassisi 2018:30060493}" "" "" "" "Germline" "?" "rs76157638" "0" "" "" "g.94051698C>G" "{CV:7879}" "likely pathogenic" ""
"0000408367" "11" "70" "1" "94476467" "94476467" "subst" "0.0424562" "02597" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Nassisi 2018:30060493}" "" "" "" "Germline" "?" "rs1801466" "0" "" "" "g.94010911T>A" "{CV:99390}" "likely pathogenic" ""
"0000408371" "0" "70" "1" "94544250" "94544250" "subst" "0" "02597" "ABCA4_001032" "g.94544250A>G" "" "{PMID:Nassisi 2018:30060493}" "" "" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94078694A>G" "" "likely pathogenic" ""
"0000408372" "0" "70" "1" "94473190" "94473190" "del" "0" "02597" "ABCA4_001031" "g.94473190del" "" "{PMID:Nassisi 2018:30060493}" "" "" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94007634del" "" "likely pathogenic" ""
"0000408373" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "02597" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Nassisi 2018:30060493}" "" "" "" "Germline/De novo (untested)" "?" "rs1800553" "0" "" "" "g.94008251C>T" "{CV:7888}" "pathogenic" ""
"0000435599" "1" "50" "1" "94546283" "94546283" "subst" "8.18311E-5" "00717" "ABCA4_000356" "g.94546283A>G" "" "{PMID:Lee 2017:28327576}, {DOI:Lee 2017:10.1038/ejhg.2017.13}" "" "" "reduces downstream acceptor by 14%" "Germline" "" "" "0" "" "" "g.94080727A>G" "" "VUS" ""
"0000435600" "3" "50" "1" "94502328" "94502328" "subst" "0.000255854" "00717" "ABCA4_001035" "g.94502328G>A" "" "{PMID:Lee 2017:28327576}, {DOI:Lee 2017:10.1038/ejhg.2017.13}" "" "" "" "Germline" "" "" "0" "" "" "g.94036772G>A" "" "VUS" ""
"0000435601" "2" "70" "1" "94546283" "94546283" "subst" "8.18311E-5" "00006" "ABCA4_000356" "g.94546283A>G" "" "{PMID:Lee 2017:28327576}, {DOI:Lee 2017:10.1038/ejhg.2017.13}" "" "" "" "Germline" "" "" "0" "" "" "g.94080727A>G" "" "likely pathogenic (recessive)" ""
"0000438552" "3" "90" "1" "94492937" "94492937" "subst" "0" "01244" "ABCA4_000529" "g.94492937G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.94027381G>A" "" "pathogenic" ""
"0000438655" "3" "90" "1" "94520675" "94520678" "dup" "0" "01244" "ABCA4_001036" "g.94520675_94520678dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.94055119_94055122dup" "" "pathogenic" ""
"0000438689" "1" "90" "1" "94495021" "94495021" "subst" "0.000161713" "01244" "ABCA4_000538" "g.94495021C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.94029465C>T" "" "pathogenic" ""
"0000438690" "2" "90" "1" "94490550" "94490550" "subst" "0.000105588" "01244" "ABCA4_000523" "g.94490550C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.94024994C>T" "" "pathogenic" ""
"0000441240" "1" "97" "1" "94476890" "94476890" "subst" "4.06227E-6" "00006" "ABCA4_000434" "g.94476890G>C" "" "{PMID:Lionel 2018:28771251}" "" "" "" "Germline" "" "" "0" "" "" "g.94011334G>C" "" "pathogenic (recessive)" ""
"0000441241" "2" "95" "1" "94506901" "94506901" "subst" "0.000308665" "00006" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Lionel 2018:28771251}" "" "" "" "Germline" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000441245" "1" "90" "1" "94544249" "94544249" "subst" "8.12196E-6" "00006" "ABCA4_000323" "g.94544249A>G" "" "{PMID:Lionel 2018:28771251}" "" "" "" "Germline" "" "" "0" "" "" "g.94078693A>G" "" "pathogenic (recessive)" ""
"0000441246" "0" "99" "1" "94564350" "94564350" "subst" "9.34268E-5" "00006" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Lionel 2018:28771251}" "" "" "" "Germline" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000441247" "1" "90" "1" "94505675" "94505675" "del" "0" "00006" "ABCA4_001037" "g.94505675del" "" "{PMID:Lionel 2018:28771251}" "" "3531delC" "" "Germline" "" "" "0" "" "" "g.94040119del" "" "pathogenic (recessive)" ""
"0000441248" "2" "90" "1" "94522386" "94522386" "subst" "0" "00006" "ABCA4_000746" "g.94522386C>T" "" "{PMID:Lionel 2018:28771251}" "" "" "" "Germline" "" "" "0" "" "" "g.94056830C>T" "" "pathogenic (recessive)" ""
"0000441253" "1" "90" "1" "94492973" "94492973" "subst" "0" "00006" "ABCA4_000030" "g.94492973G>A" "" "{PMID:Lionel 2018:28771251}" "" "" "" "Germline" "" "" "0" "" "" "g.94027417G>A" "" "pathogenic (recessive)" ""
"0000441254" "2" "90" "1" "94495177" "94495177" "del" "0" "00006" "ABCA4_001038" "g.94495177del" "" "{PMID:Lionel 2018:28771251}" "" "4363delT" "" "Germline" "" "" "0" "" "" "g.94029621del" "" "pathogenic (recessive)" ""
"0000441255" "2" "53" "1" "94487490" "94487490" "subst" "0.00122268" "00006" "ABCA4_000506" "g.94487490A>G" "" "{PMID:Lionel 2018:28771251}" "" "" "" "Germline" "" "" "0" "" "" "g.94021934A>G" "" "VUS" ""
"0000454330" "0" "90" "1" "94578623" "94578623" "del" "0" "03188" "ABCA4_001093" "g.94578623del" "" "" "" "67-1delG" "" "Germline" "" "" "0" "" "" "g.94113067del" "" "pathogenic" ""
"0000454331" "0" "70" "1" "94568686" "94568686" "subst" "0.00258122" "03188" "ABCA4_000212" "g.94568686C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.94103130C>T" "" "likely pathogenic" ""
"0000454332" "0" "70" "1" "94564484" "94564484" "subst" "0.000110199" "03188" "ABCA4_000036" "g.94564484G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.94098928G>A" "" "likely pathogenic" ""
"0000473843" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000473844" "1" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic" ""
"0000473845" "2" "10" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94010911T>A" "" "benign" ""
"0000473846" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000473847" "1" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic" ""
"0000473848" "2" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000473849" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000473850" "1" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic" ""
"0000473851" "2" "10" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94010911T>A" "" "benign" ""
"0000473852" "1" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Khan 2019:31212395}" "" "" "unknown variant 2nd allele" "Unknown" "no" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic" ""
"0000473853" "1" "70" "1" "94471067" "94471067" "subst" "4.06237E-6" "01695" "ABCA4_001001" "g.94471067A>G" "" "{PMID:Khan 2019:31212395}" "" "" "unknown variant 2nd allele" "Unknown" "no" "" "0" "" "" "g.94005511A>G" "" "likely pathogenic" ""
"0000473854" "1" "10" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2019:31212395}" "" "" "unknown variant 2nd allele" "Unknown" "no" "" "0" "" "" "g.94010911T>A" "" "benign" ""
"0000473855" "1" "10" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2019:31212395}" "" "" "unknown variant 2nd allele" "Unknown" "no" "" "0" "" "" "g.94010911T>A" "" "benign" ""
"0000473856" "1" "70" "1" "94495009" "94495009" "del" "0" "01695" "ABCA4_000534" "g.94495009del" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94029453del" "" "likely pathogenic" ""
"0000473857" "2" "10" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94010911T>A" "" "benign" ""
"0000473858" "1" "30" "1" "94526289" "94526289" "subst" "0.000417202" "01695" "ABCA4_000767" "g.94526289A>C" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94060733A>C" "" "likely benign" ""
"0000473859" "2" "30" "1" "94473287" "94473287" "subst" "0.00293818" "01695" "ABCA4_000395" "g.94473287G>A" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94007731G>A" "" "likely benign" ""
"0000473860" "1" "10" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2019:31212395}" "" "" "unknown variant 2nd allele" "Unknown" "no" "" "0" "" "" "g.94010911T>A" "" "benign" ""
"0000473861" "1" "10" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2019:31212395}" "" "" "unknown variant 2nd allele" "Unknown" "no" "" "0" "" "" "g.94010911T>A" "" "benign" ""
"0000473862" "1" "70" "1" "94495989" "94495989" "subst" "8.12229E-6" "01695" "ABCA4_001090" "g.94495989C>A" "" "{PMID:Khan 2019:31212395}" "" "" "unknown variant 2nd allele" "Unknown" "no" "" "0" "" "" "g.94030433C>A" "" "likely pathogenic" ""
"0000473863" "1" "50" "1" "94496509" "94496509" "subst" "0.00475243" "01695" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94030953C>T" "" "VUS" ""
"0000473864" "2" "50" "1" "94494142" "94494142" "subst" "0" "01695" "ABCA4_001091" "g.94494142G>A" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94028586G>A" "" "VUS" ""
"0000473865" "1" "50" "1" "94492973" "94492973" "subst" "0" "01695" "ABCA4_000030" "g.94492973G>A" "" "{PMID:Khan 2019:31212395}" "" "" "unknown variant 2nd allele" "Unknown" "no" "" "0" "" "" "g.94027417G>A" "" "VUS" ""
"0000473866" "1" "90" "1" "94495983" "94495983" "subst" "8.12348E-6" "01695" "ABCA4_000547" "g.94495983C>T" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94030427C>T" "" "pathogenic" ""
"0000473867" "2" "50" "1" "94496509" "94496509" "subst" "0.00475243" "01695" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94030953C>T" "" "VUS" ""
"0000473868" "1" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000473869" "2" "70" "1" "94476364" "94476364" "dup" "0" "01695" "ABCA4_001092" "g.94476364dup" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94010808dup" "" "likely pathogenic" ""
"0000473870" "1" "90" "1" "94463488" "94463488" "subst" "5.2803E-5" "01695" "ABCA4_000802" "g.94463488G>A" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.93997932G>A" "" "pathogenic" ""
"0000473871" "2" "50" "1" "94496509" "94496509" "subst" "0.00475243" "01695" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94030953C>T" "" "VUS" ""
"0000473872" "1" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Khan 2019:31212395}" "" "" "unknown variant 2nd allele" "Unknown" "no" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000473873" "1" "70" "1" "94485157" "94485158" "ins" "0" "01695" "ABCA4_001040" "g.94485157_94485158insC" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94019601_94019602insC" "" "likely pathogenic" ""
"0000473874" "2" "70" "1" "94546124" "94546124" "subst" "0" "01695" "ABCA4_000342" "g.94546124A>G" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94080568A>G" "" "likely pathogenic" ""
"0000473875" "1" "70" "1" "94486895" "94486895" "subst" "3.24923E-5" "01695" "ABCA4_000484" "g.94486895C>T" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94021339C>T" "" "likely pathogenic" ""
"0000473876" "2" "10" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94010911T>A" "" "benign" ""
"0000473877" "1" "10" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2019:31212395}" "" "" "unknown variant 2nd allele" "Unknown" "no" "" "0" "" "" "g.94010911T>A" "" "benign" ""
"0000473878" "1" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Khan 2019:31212395}" "" "" "unknown variant 2nd allele" "Unknown" "no" "rs76157638" "0" "" "" "g.94051698C>G" "" "likely pathogenic" ""
"0000473879" "1" "90" "1" "94508356" "94508356" "subst" "0" "01695" "ABCA4_000635" "g.94508356T>A" "" "{PMID:Khan 2019:31212395}" "" "" "unknown variant 2nd allele" "Unknown" "no" "" "0" "" "" "g.94042800T>A" "" "pathogenic" ""
"0000473880" "1" "10" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2019:31212395}" "" "" "unknown variant 2nd allele" "Unknown" "no" "" "0" "" "" "g.94010911T>A" "" "benign" ""
"0000473881" "1" "10" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2019:31212395}" "" "" "unknown variant 2nd allele" "Unknown" "no" "" "0" "" "" "g.94010911T>A" "" "benign" ""
"0000473882" "1" "30" "1" "94528774" "94528774" "subst" "0.00264827" "01695" "ABCA4_000298" "g.94528774C>T" "" "{PMID:Khan 2019:31212395}" "" "" "unknown variant 2nd allele" "Unknown" "no" "" "0" "" "" "g.94063218C>T" "" "likely benign" ""
"0000473883" "1" "50" "1" "94496509" "94496509" "subst" "0.00475243" "01695" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94030953C>T" "" "VUS" ""
"0000473884" "2" "50" "1" "94494142" "94494142" "subst" "0" "01695" "ABCA4_001091" "g.94494142G>A" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94028586G>A" "" "VUS" ""
"0000473885" "1" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94011395A>G" "" "pathogenic" ""
"0000473886" "1" "10" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94010911T>A" "" "benign" ""
"0000473887" "2" "50" "1" "94508473" "94508473" "subst" "8.53457E-5" "01695" "ABCA4_001041" "g.94508473C>T" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94042917C>T" "" "VUS" ""
"0000473888" "1" "70" "1" "94471055" "94471055" "subst" "0.00035346" "01695" "ABCA4_000029" "g.94471055C>T" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94005499C>T" "" "likely pathogenic" ""
"0000473889" "2" "90" "1" "94526247" "94526248" "del" "0" "01695" "ABCA4_000761" "g.94526247_94526248del" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94060691_94060692del" "" "pathogenic" ""
"0000473890" "1" "50" "1" "94578529" "94578529" "subst" "0" "01695" "ABCA4_000245" "g.94578529A>C" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94112973A>C" "" "VUS" ""
"0000473891" "1" "10" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94010911T>A" "" "benign" ""
"0000473892" "2" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000473893" "1" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Khan 2019:31212395}" "" "" "unknown variant 2nd allele" "Unknown" "no" "" "0" "" "" "g.94011395A>G" "" "pathogenic" ""
"0000473894" "1" "90" "1" "94496571" "94496571" "subst" "4.06174E-6" "01695" "ABCA4_000111" "g.94496571G>A" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94031015G>A" "" "pathogenic" ""
"0000473895" "2" "10" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94010911T>A" "" "benign" ""
"0000473896" "1" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94011395A>G" "" "pathogenic" ""
"0000473897" "1" "10" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94010911T>A" "" "benign" ""
"0000473898" "2" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000473899" "1" "10" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2019:31212395}" "" "" "unknown variant 2nd allele" "Unknown" "no" "" "0" "" "" "g.94010911T>A" "" "benign" ""
"0000473900" "1" "90" "1" "94578527" "94578527" "subst" "0" "01695" "ABCA4_000243" "g.94578527A>G" "" "{PMID:Khan 2019:31212395}" "" "" "unknown variant 2nd allele" "Unknown" "no" "" "0" "" "" "g.94112971A>G" "" "pathogenic" ""
"0000473901" "1" "70" "1" "94485145" "94485145" "subst" "0" "01695" "ABCA4_001015" "g.94485145C>T" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94019589C>T" "" "likely pathogenic" ""
"0000473902" "2" "10" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94010911T>A" "" "benign" ""
"0000473903" "1" "70" "1" "94577117" "94577117" "subst" "1.62472E-5" "01695" "ABCA4_000237" "g.94577117G>A" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94111561G>A" "" "likely pathogenic" ""
"0000473904" "1" "50" "1" "94476377" "94476377" "subst" "0.00160473" "01695" "ABCA4_000411" "g.94476377C>T" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94010821C>T" "" "VUS" ""
"0000473905" "2" "90" "1" "94546248" "94546248" "del" "2.03666E-5" "01695" "ABCA4_000352" "g.94546248del" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94080692del" "" "pathogenic" ""
"0000473906" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000473907" "1" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic" ""
"0000473908" "2" "10" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94010911T>A" "" "benign" ""
"0000473909" "1" "30" "1" "94514477" "94514477" "subst" "0.00118992" "01695" "ABCA4_000700" "g.94514477G>A" "" "{PMID:Khan 2019:31212395}" "" "" "unknown variant 2nd allele" "Unknown" "no" "" "0" "" "" "g.94048921G>A" "" "likely benign" ""
"0000473910" "1" "30" "1" "94487404" "94487404" "subst" "0.00244055" "01695" "ABCA4_000497" "g.94487404C>T" "" "{PMID:Khan 2019:31212395}" "" "" "unknown variant 2nd allele" "Unknown" "no" "" "0" "" "" "g.94021848C>T" "" "likely benign" ""
"0000473911" "1" "30" "1" "94487404" "94487404" "subst" "0.00244055" "01695" "ABCA4_000497" "g.94487404C>T" "" "{PMID:Khan 2019:31212395}" "" "" "unknown variant 2nd allele" "Unknown" "no" "" "0" "" "" "g.94021848C>T" "" "likely benign" ""
"0000473912" "1" "50" "1" "94506910" "94506910" "subst" "4.06098E-6" "01695" "ABCA4_000105" "g.94506910A>G" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94041354A>G" "" "VUS" ""
"0000473913" "2" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000473914" "1" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94098794C>A" "" "pathogenic" ""
"0000473915" "2" "10" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94010911T>A" "" "benign" ""
"0000473916" "1" "10" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2019:31212395}" "" "" "unknown variant 2nd allele" "Unknown" "no" "" "0" "" "" "g.94010911T>A" "" "benign" ""
"0000473917" "1" "70" "1" "94471032" "94471032" "subst" "1.62553E-5" "01695" "ABCA4_000792" "g.94471032G>A" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94005476G>A" "" "likely pathogenic" ""
"0000473918" "2" "70" "1" "94543277" "94543277" "subst" "0" "01695" "ABCA4_001042" "g.94543277C>G" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94077721C>G" "" "likely pathogenic" ""
"0000473919" "1" "90" "1" "94473278" "94473278" "del" "3.25908E-5" "01695" "ABCA4_000392" "g.94473278del" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94007722del" "" "pathogenic" ""
"0000473920" "2" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000473921" "1" "90" "1" "94473278" "94473278" "del" "3.25908E-5" "01695" "ABCA4_000392" "g.94473278del" "" "{PMID:Khan 2019:31212395}" "" "" "unknown variant 2nd allele" "Unknown" "no" "" "0" "" "" "g.94007722del" "" "pathogenic" ""
"0000473922" "1" "70" "1" "94522239" "94522239" "subst" "2.03305E-5" "01695" "ABCA4_000736" "g.94522239A>T" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94056683A>T" "" "likely pathogenic" ""
"0000473923" "2" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000473924" "1" "70" "1" "94577135" "94577135" "subst" "2.43718E-5" "01695" "ABCA4_000240" "g.94577135C>T" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94111579C>T" "" "likely pathogenic" ""
"0000473925" "2" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000473926" "1" "50" "1" "94473222" "94473222" "subst" "8.14578E-6" "01695" "ABCA4_001043" "g.94473222C>G" "" "{PMID:Khan 2019:31212395}" "" "" "unknown variant 2nd allele" "Unknown" "no" "" "0" "" "" "g.94007666C>G" "" "VUS" ""
"0000473927" "1" "90" "1" "94496571" "94496571" "subst" "4.06174E-6" "01695" "ABCA4_000111" "g.94496571G>A" "" "{PMID:Khan 2019:31212395}" "" "" "unknown variant 2nd allele" "Unknown" "no" "" "0" "" "" "g.94031015G>A" "" "pathogenic" ""
"0000473928" "1" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000473929" "2" "70" "1" "94471046" "94471046" "del" "0" "01695" "ABCA4_001044" "g.94471046del" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94005490del" "" "likely pathogenic" ""
"0000473930" "1" "30" "1" "94568686" "94568686" "subst" "0.00258122" "01695" "ABCA4_000212" "g.94568686C>T" "" "{PMID:Khan 2019:31212395}" "" "" "unknown variant 2nd allele" "Unknown" "no" "" "0" "" "" "g.94103130C>T" "" "likely benign" ""
"0000473931" "1" "30" "1" "94528142" "94528142" "subst" "0.00153303" "01695" "ABCA4_000125" "g.94528142A>C" "" "{PMID:Khan 2019:31212395}" "" "" "unknown variant 2nd allele" "Unknown" "no" "" "0" "" "" "g.94062586A>C" "" "likely benign" ""
"0000473932" "1" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000473933" "2" "70" "1" "94473259" "94473259" "subst" "0" "01695" "ABCA4_001045" "g.94473259G>A" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94007703G>A" "" "likely pathogenic" ""
"0000473934" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000473935" "1" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic" ""
"0000473936" "2" "30" "1" "94549781" "94549781" "subst" "0" "01695" "ABCA4_001046" "g.94549781G>A" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94084225G>A" "" "likely benign" ""
"0000473937" "0" "10" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94010911T>A" "" "benign" ""
"0000473938" "1" "10" "1" "94463617" "94463617" "subst" "0.0109114" "01695" "ABCA4_000013" "g.94463617C>T" "" "{PMID:Khan 2019:31212395}" "" "" "unknown variant 2nd allele" "Unknown" "no" "" "0" "" "" "g.93998061C>T" "" "benign" ""
"0000473939" "1" "70" "1" "94467467" "94467467" "subst" "4.06164E-6" "01695" "ABCA4_000780" "g.94467467G>A" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94001911G>A" "" "likely pathogenic" ""
"0000473940" "2" "10" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94010911T>A" "" "benign" ""
"0000473941" "1" "70" "1" "94546177" "94546177" "subst" "0" "01695" "ABCA4_001047" "g.94546177A>C" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94080621A>C" "" "likely pathogenic" ""
"0000473942" "2" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000473943" "1" "70" "1" "94466663" "94466664" "delins" "0" "01695" "ABCA4_001048" "g.94466663_94466664delinsCT" "" "{PMID:Khan 2019:31212395}" "" "" "unknown variant 2nd allele" "Unknown" "no" "" "0" "" "" "g.94001107_94001108delinsCT" "" "likely pathogenic" ""
"0000473944" "1" "70" "1" "94528709" "94528709" "subst" "0" "01695" "ABCA4_001049" "g.94528709C>T" "" "{PMID:Khan 2019:31212395}" "" "" "unknown variant 2nd allele" "Unknown" "no" "" "0" "" "" "g.94063153C>T" "" "likely pathogenic" ""
"0000473945" "1" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94011395A>G" "" "pathogenic" ""
"0000473946" "1" "10" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94010911T>A" "" "benign" ""
"0000473947" "2" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000473948" "1" "10" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2019:31212395}" "" "" "unknown variant 2nd allele" "Unknown" "no" "" "0" "" "" "g.94010911T>A" "" "benign" ""
"0000473949" "1" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000473950" "2" "70" "1" "94480107" "94480107" "del" "0" "01695" "ABCA4_001050" "g.94480107del" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94014551del" "" "likely pathogenic" ""
"0000473951" "1" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Khan 2019:31212395}" "" "" "unknown variant 2nd allele" "Unknown" "no" "" "0" "" "" "g.94011395A>G" "" "pathogenic" ""
"0000473952" "1" "50" "1" "94496509" "94496509" "subst" "0.00475243" "01695" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Khan 2019:31212395}" "" "" "unknown variant 2nd allele" "Unknown" "no" "" "0" "" "" "g.94030953C>T" "" "VUS" ""
"0000473953" "1" "70" "1" "94528248" "94528248" "subst" "1.22148E-5" "01695" "ABCA4_000279" "g.94528248A>T" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94062692A>T" "" "likely pathogenic" ""
"0000473954" "2" "10" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94010911T>A" "" "benign" ""
"0000473955" "1" "10" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2019:31212395}" "" "" "unknown variant 2nd allele" "Unknown" "no" "" "0" "" "" "g.94010911T>A" "" "benign" ""
"0000473956" "1" "70" "1" "94496548" "94496548" "subst" "2.43787E-5" "01695" "ABCA4_000088" "g.94496548G>A" "" "{PMID:Khan 2019:31212395}" "" "" "unknown variant 2nd allele" "Unknown" "no" "" "0" "" "" "g.94030992G>A" "" "likely pathogenic" ""
"0000473957" "1" "70" "1" "94543445" "94543445" "subst" "0" "01695" "ABCA4_001051" "g.94543445T>C" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94077889T>C" "" "likely pathogenic" ""
"0000473958" "2" "10" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94010911T>A" "" "benign" ""
"0000473959" "1" "70" "1" "94495077" "94495077" "subst" "0" "01695" "ABCA4_000184" "g.94495077C>T" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94029521C>T" "" "likely pathogenic" ""
"0000473960" "2" "70" "1" "94467548" "94467548" "subst" "0.00295661" "01695" "ABCA4_000788" "g.94467548C>G" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94001992C>G" "" "likely pathogenic" ""
"0000473961" "1" "10" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2019:31212395}" "" "" "unknown variant 2nd allele" "Unknown" "no" "" "0" "" "" "g.94010911T>A" "" "benign" ""
"0000473962" "1" "90" "1" "94526092" "94526092" "subst" "0" "01695" "ABCA4_000749" "g.94526092C>A" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94060536C>A" "" "pathogenic" ""
"0000473963" "2" "10" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94010911T>A" "" "benign" ""
"0000473964" "1" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94098794C>A" "" "pathogenic" ""
"0000473965" "2" "10" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94010911T>A" "" "benign" ""
"0000473966" "1" "70" "1" "94528277" "94528277" "subst" "0" "01695" "ABCA4_001052" "g.94528277A>C" "" "{PMID:Khan 2019:31212395}" "" "" "unknown variant 2nd allele" "Unknown" "no" "" "0" "" "" "g.94062721A>C" "" "likely pathogenic" ""
"0000473967" "1" "70" "1" "94486896" "94486896" "subst" "3.65562E-5" "01695" "ABCA4_000085" "g.94486896G>A" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94021340G>A" "" "likely pathogenic" ""
"0000473968" "1" "50" "1" "94476377" "94476377" "subst" "0.00160473" "01695" "ABCA4_000411" "g.94476377C>T" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94010821C>T" "" "VUS" ""
"0000473969" "2" "50" "1" "94496509" "94496509" "subst" "0.00475243" "01695" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94030953C>T" "" "VUS" ""
"0000473970" "1" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Khan 2019:31212395}" "" "" "unknown variant 2nd allele" "Unknown" "no" "rs76157638" "0" "" "" "g.94051698C>G" "" "likely pathogenic" ""
"0000473971" "1" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Khan 2019:31212395}" "" "" "unknown variant 2nd allele" "Unknown" "no" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000473972" "1" "70" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94046943T>C" "" "likely pathogenic" ""
"0000473973" "2" "70" "1" "94480230" "94480230" "subst" "6.09177E-5" "01695" "ABCA4_001053" "g.94480230T>A" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94014674T>A" "" "likely pathogenic" ""
"0000473974" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000473975" "1" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic" ""
"0000473976" "2" "10" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94010911T>A" "" "benign" ""
"0000473977" "1" "70" "1" "94543348" "94543348" "del" "0" "01695" "ABCA4_001054" "g.94543348del" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94077792del" "" "likely pathogenic" ""
"0000473978" "2" "30" "1" "94549781" "94549781" "subst" "0" "01695" "ABCA4_001046" "g.94549781G>A" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94084225G>A" "" "likely benign" ""
"0000473979" "0" "10" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94010911T>A" "" "benign" ""
"0000473980" "1" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "" "{PMID:Khan 2019:31212395}" "" "" "unknown variant 2nd allele" "Unknown" "no" "" "0" "" "" "g.94029515C>T" "" "likely pathogenic" ""
"0000473981" "1" "10" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2019:31212395}" "" "" "unknown variant 2nd allele" "Unknown" "no" "" "0" "" "" "g.94010911T>A" "" "benign" ""
"0000473982" "1" "70" "1" "94508373" "94508373" "subst" "0" "01695" "ABCA4_000639" "g.94508373C>T" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94042817C>T" "" "likely pathogenic" ""
"0000473983" "2" "10" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94010911T>A" "" "benign" ""
"0000473984" "1" "90" "1" "94578567" "94578567" "subst" "4.06204E-6" "01695" "ABCA4_000247" "g.94578567C>T" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94113011C>T" "" "pathogenic" ""
"0000473985" "2" "10" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94010911T>A" "" "benign" ""
"0000473986" "1" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "rs76157638" "0" "" "" "g.94051698C>G" "" "likely pathogenic" ""
"0000473987" "1" "10" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94010911T>A" "" "benign" ""
"0000473988" "2" "50" "1" "94484082" "94484082" "subst" "0" "01695" "ABCA4_000028" "g.94484082T>C" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94018526T>C" "" "VUS" ""
"0000473989" "1" "10" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2019:31212395}" "" "" "unknown variant 2nd allele" "Unknown" "no" "" "0" "" "" "g.94010911T>A" "" "benign" ""
"0000473990" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000473991" "1" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic" ""
"0000473992" "2" "10" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94010911T>A" "" "benign" ""
"0000473993" "1" "70" "1" "94578624" "94578624" "subst" "4.07408E-6" "01695" "ABCA4_001055" "g.94578624T>C" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94113068T>C" "" "likely pathogenic" ""
"0000473994" "2" "30" "1" "94549781" "94549781" "subst" "0" "01695" "ABCA4_001046" "g.94549781G>A" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94084225G>A" "" "likely benign" ""
"0000473995" "0" "50" "1" "94506910" "94506910" "subst" "4.06098E-6" "01695" "ABCA4_000105" "g.94506910A>G" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94041354A>G" "" "VUS" ""
"0000473996" "1" "10" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2019:31212395}" "" "" "unknown variant 2nd allele" "Unknown" "no" "" "0" "" "" "g.94010911T>A" "" "benign" ""
"0000473997" "1" "50" "1" "94476377" "94476377" "subst" "0.00160473" "01695" "ABCA4_000411" "g.94476377C>T" "" "{PMID:Khan 2019:31212395}" "" "" "unknown variant 2nd allele" "Unknown" "no" "" "0" "" "" "g.94010821C>T" "" "VUS" ""
"0000473998" "1" "10" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2019:31212395}" "" "" "unknown variant 2nd allele" "Unknown" "no" "" "0" "" "" "g.94010911T>A" "" "benign" ""
"0000473999" "1" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Khan 2019:31212395}" "" "" "unknown variant 2nd allele" "Unknown" "no" "rs76157638" "0" "" "" "g.94051698C>G" "" "likely pathogenic" ""
"0000474000" "1" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Khan 2019:31212395}" "" "" "unknown variant 2nd allele" "Unknown" "no" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000474001" "1" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94098794C>A" "" "pathogenic" ""
"0000474002" "2" "50" "1" "94496509" "94496509" "subst" "0.00475243" "01695" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94030953C>T" "" "VUS" ""
"0000474003" "1" "90" "1" "94544209" "94544209" "subst" "0" "01695" "ABCA4_000113" "g.94544209C>T" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94078653C>T" "" "pathogenic" ""
"0000474004" "2" "50" "1" "94496509" "94496509" "subst" "0.00475243" "01695" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94030953C>T" "" "VUS" ""
"0000474005" "1" "30" "1" "94528774" "94528774" "subst" "0.00264827" "01695" "ABCA4_000298" "g.94528774C>T" "" "{PMID:Khan 2019:31212395}" "" "" "unknown variant 2nd allele" "Unknown" "no" "" "0" "" "" "g.94063218C>T" "" "likely benign" ""
"0000474006" "1" "90" "1" "94526092" "94526092" "subst" "0" "01695" "ABCA4_000749" "g.94526092C>A" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94060536C>A" "" "pathogenic" ""
"0000474007" "2" "10" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94010911T>A" "" "benign" ""
"0000474008" "1" "70" "1" "94526296" "94526296" "subst" "1.64555E-5" "01695" "ABCA4_000768" "g.94526296G>A" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94060740G>A" "" "likely pathogenic" ""
"0000474009" "2" "50" "1" "94496509" "94496509" "subst" "0.00475243" "01695" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94030953C>T" "" "VUS" ""
"0000474010" "1" "10" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2019:31212395}" "" "" "unknown variant 2nd allele" "Unknown" "no" "" "0" "" "" "g.94010911T>A" "" "benign" ""
"0000474011" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000474012" "1" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic" ""
"0000474013" "2" "50" "1" "94496509" "94496509" "subst" "0.00475243" "01695" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94030953C>T" "" "VUS" ""
"0000474014" "0" "10" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94010911T>A" "" "benign" ""
"0000474015" "1" "30" "1" "94487404" "94487404" "subst" "0.00244055" "01695" "ABCA4_000497" "g.94487404C>T" "" "{PMID:Khan 2019:31212395}" "" "" "unknown variant 2nd allele" "Unknown" "no" "" "0" "" "" "g.94021848C>T" "" "likely benign" ""
"0000474016" "1" "50" "1" "94495021" "94495021" "subst" "0.000161713" "01695" "ABCA4_000538" "g.94495021C>T" "" "{PMID:Khan 2019:31212395}" "" "" "unknown variant 2nd allele" "Unknown" "no" "" "0" "" "" "g.94029465C>T" "" "VUS" ""
"0000474017" "1" "90" "1" "94471056" "94471056" "subst" "2.84398E-5" "01695" "ABCA4_000050" "g.94471056G>A" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94005500G>A" "" "pathogenic" ""
"0000474018" "2" "10" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94010911T>A" "" "benign" ""
"0000474019" "1" "70" "1" "94485269" "94485269" "subst" "0" "01695" "ABCA4_000146" "g.94485269A>G" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94019713A>G" "" "likely pathogenic" ""
"0000474020" "2" "10" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94010911T>A" "" "benign" ""
"0000474021" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000474022" "1" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic" ""
"0000474023" "2" "10" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94010911T>A" "" "benign" ""
"0000474024" "1" "90" "1" "94546047" "94546047" "subst" "0" "01695" "ABCA4_000150" "g.94546047A>T" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94080491A>T" "" "pathogenic" ""
"0000474025" "2" "10" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94010911T>A" "" "benign" ""
"0000474026" "1" "10" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2019:31212395}" "" "" "unknown variant 2nd allele" "Unknown" "no" "" "0" "" "" "g.94010911T>A" "" "benign" ""
"0000474027" "1" "10" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2019:31212395}" "" "" "unknown variant 2nd allele" "Unknown" "no" "" "0" "" "" "g.94010911T>A" "" "benign" ""
"0000474028" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000474029" "1" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic" ""
"0000474030" "2" "10" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94010911T>A" "" "benign" ""
"0000474031" "1" "10" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2019:31212395}" "" "" "unknown variant 2nd allele" "Unknown" "no" "" "0" "" "" "g.94010911T>A" "" "benign" ""
"0000474032" "1" "50" "1" "94483979" "94483979" "subst" "0" "01695" "ABCA4_000018" "g.94483979C>T" "" "{PMID:Khan 2019:31212395}" "" "" "unknown variant 2nd allele" "Unknown" "no" "" "0" "" "" "g.94018423C>T" "" "VUS" ""
"0000474033" "1" "10" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2019:31212395}" "" "" "unknown variant 2nd allele" "Unknown" "no" "" "0" "" "" "g.94010911T>A" "" "benign" ""
"0000474034" "1" "10" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2019:31212395}" "" "" "unknown variant 2nd allele" "Unknown" "no" "" "0" "" "" "g.94010911T>A" "" "benign" ""
"0000474035" "1" "30" "1" "94487404" "94487404" "subst" "0.00244055" "01695" "ABCA4_000497" "g.94487404C>T" "" "{PMID:Khan 2019:31212395}" "" "" "unknown variant 2nd allele" "Unknown" "no" "" "0" "" "" "g.94021848C>T" "" "likely benign" ""
"0000474036" "1" "90" "1" "94528132" "94528132" "subst" "4.06835E-6" "01695" "ABCA4_000773" "g.94528132C>T" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94062576C>T" "" "pathogenic" ""
"0000474037" "2" "10" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94010911T>A" "" "benign" ""
"0000474038" "1" "70" "1" "94476853" "94476853" "subst" "4.06243E-6" "01695" "ABCA4_000429" "g.94476853A>G" "" "{PMID:Khan 2019:31212395}" "" "" "unknown variant 2nd allele" "Unknown" "no" "" "0" "" "" "g.94011297A>G" "" "likely pathogenic" ""
"0000474039" "1" "30" "1" "94473287" "94473287" "subst" "0.00293818" "01695" "ABCA4_000395" "g.94473287G>A" "" "{PMID:Khan 2019:31212395}" "" "" "unknown variant 2nd allele" "Unknown" "no" "" "0" "" "" "g.94007731G>A" "" "likely benign" ""
"0000474040" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000474041" "1" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic" ""
"0000474042" "2" "10" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94010911T>A" "" "benign" ""
"0000474043" "1" "70" "1" "94496547" "94496547" "subst" "1.21904E-5" "01695" "ABCA4_000560" "g.94496547C>T" "" "{PMID:Khan 2019:31212395}" "" "" "unknown variant 2nd allele" "Unknown" "no" "" "0" "" "" "g.94030991C>T" "" "likely pathogenic" ""
"0000474044" "1" "70" "1" "94508933" "94508933" "subst" "2.43853E-5" "01695" "ABCA4_000134" "g.94508933C>T" "" "{PMID:Khan 2019:31212395}" "" "" "unknown variant 2nd allele" "Unknown" "no" "" "0" "" "" "g.94043377C>T" "" "likely pathogenic" ""
"0000474045" "1" "50" "1" "94476377" "94476377" "subst" "0.00160473" "01695" "ABCA4_000411" "g.94476377C>T" "" "{PMID:Khan 2019:31212395}" "" "" "unknown variant 2nd allele" "Unknown" "no" "" "0" "" "" "g.94010821C>T" "" "VUS" ""
"0000474046" "1" "90" "1" "94528132" "94528132" "subst" "4.06835E-6" "01695" "ABCA4_000773" "g.94528132C>T" "" "{PMID:Khan 2019:31212395}" "" "" "unknown variant 2nd allele" "Unknown" "no" "" "0" "" "" "g.94062576C>T" "" "pathogenic" ""
"0000474047" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000474048" "1" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic" ""
"0000474049" "2" "50" "1" "94496509" "94496509" "subst" "0.00475243" "01695" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94030953C>T" "" "VUS" ""
"0000474050" "1" "50" "1" "94496080" "94496080" "subst" "0.000982813" "01695" "ABCA4_000558" "g.94496080A>G" "" "{PMID:Khan 2019:31212395}" "" "" "unknown variant 2nd allele" "Unknown" "no" "" "0" "" "" "g.94030524A>G" "" "VUS" ""
"0000474051" "1" "70" "1" "94471055" "94471055" "subst" "0.00035346" "01695" "ABCA4_000029" "g.94471055C>T" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94005499C>T" "" "likely pathogenic" ""
"0000474052" "2" "50" "1" "94492937" "94492937" "subst" "0" "01695" "ABCA4_000529" "g.94492937G>A" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94027381G>A" "" "VUS" ""
"0000474053" "1" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Khan 2019:31212395}" "" "" "unknown variant 2nd allele" "Unknown" "no" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000474054" "1" "70" "1" "94520708" "94520708" "subst" "0.00102774" "01695" "ABCA4_000074" "g.94520708A>G" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94055152A>G" "" "likely pathogenic" ""
"0000474055" "2" "50" "1" "94484002" "94484002" "subst" "0" "01695" "ABCA4_000017" "g.94484002G>T" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94018446G>T" "" "VUS" ""
"0000474056" "1" "70" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94062710G>A" "" "likely pathogenic" ""
"0000474057" "2" "50" "1" "94484001" "94484001" "subst" "0" "01695" "ABCA4_000016" "g.94484001C>T" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94018445C>T" "" "VUS" ""
"0000474058" "1" "10" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2019:31212395}" "" "" "unknown variant 2nd allele" "Unknown" "no" "" "0" "" "" "g.94010911T>A" "" "benign" ""
"0000474059" "1" "30" "1" "94486905" "94486905" "subst" "0.000105614" "01695" "ABCA4_000485" "g.94486905C>T" "" "{PMID:Khan 2019:31212395}" "" "" "unknown variant 2nd allele" "Unknown" "no" "" "0" "" "" "g.94021349C>T" "" "likely benign" ""
"0000474060" "1" "70" "1" "94495009" "94495009" "del" "0" "01695" "ABCA4_000534" "g.94495009del" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94029453del" "" "likely pathogenic" ""
"0000474061" "2" "10" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94010911T>A" "" "benign" ""
"0000474062" "1" "90" "1" "94508356" "94508356" "subst" "0" "01695" "ABCA4_000635" "g.94508356T>A" "" "{PMID:Khan 2019:31212395}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94042800T>A" "" "pathogenic" ""
"0000474063" "2" "50" "1" "94484001" "94484001" "subst" "0" "01695" "ABCA4_000016" "g.94484001C>T" "" "{PMID:Khan 2019:31212395}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94018445C>T" "" "VUS" ""
"0000474064" "1" "10" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2019:31212395}" "" "" "unknown variant 2nd allele" "Unknown" "no" "" "0" "" "" "g.94010911T>A" "" "benign" ""
"0000474065" "1" "30" "1" "94549781" "94549781" "subst" "0" "01695" "ABCA4_001046" "g.94549781G>A" "" "{PMID:Khan 2019:31212395}" "" "" "unknown variant 2nd allele" "Unknown" "no" "" "0" "" "" "g.94084225G>A" "" "likely benign" ""
"0000474066" "1" "90" "1" "94480248" "94480248" "del" "0" "01695" "ABCA4_001056" "g.94480248del" "" "{PMID:Khan 2019:31212395}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94014692del" "" "pathogenic" ""
"0000474067" "2" "10" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2019:31212395}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94010911T>A" "" "benign" ""
"0000474068" "1" "50" "1" "94517266" "94517266" "subst" "0.00217349" "01695" "ABCA4_001057" "g.94517266G>C" "" "{PMID:Khan 2019:31212395}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94051710G>C" "" "VUS" ""
"0000474069" "1" "90" "1" "94508997" "94508997" "subst" "0" "01695" "ABCA4_000112" "g.94508997G>A" "" "{PMID:Khan 2019:31212395}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94043441G>A" "" "pathogenic" ""
"0000474070" "2" "50" "1" "94484001" "94484001" "subst" "0" "01695" "ABCA4_000016" "g.94484001C>T" "" "{PMID:Khan 2019:31212395}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94018445C>T" "" "VUS" ""
"0000474071" "1" "70" "1" "94497392" "94497392" "subst" "0" "01695" "ABCA4_000577" "g.94497392G>A" "" "{PMID:Khan 2019:31212395}" "" "" "unknown variant 2nd allele" "Unknown" "no" "" "0" "" "" "g.94031836G>A" "" "likely pathogenic" ""
"0000474072" "1" "70" "1" "94528679" "94528679" "subst" "2.84368E-5" "01695" "ABCA4_000292" "g.94528679C>G" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94063123C>G" "" "likely pathogenic" ""
"0000474073" "2" "50" "1" "94492937" "94492937" "subst" "0" "01695" "ABCA4_000529" "g.94492937G>A" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94027381G>A" "" "VUS" ""
"0000474074" "1" "70" "1" "94490511" "94490511" "subst" "0" "01695" "ABCA4_001058" "g.94490511T>C" "" "{PMID:Khan 2019:31212395}" "" "" "unknown variant 2nd allele" "Unknown" "no" "" "0" "" "" "g.94024955T>C" "" "likely pathogenic" ""
"0000474075" "1" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "rs76157638" "0" "" "" "g.94051698C>G" "" "likely pathogenic" ""
"0000474076" "2" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94011395A>G" "" "pathogenic" ""
"0000474077" "0" "10" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94010911T>A" "" "benign" ""
"0000474078" "1" "70" "1" "94476893" "94476893" "subst" "0" "01695" "ABCA4_001059" "g.94476893G>A" "" "{PMID:Khan 2019:31212395}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94011337G>A" "" "likely pathogenic" ""
"0000474079" "2" "50" "1" "94496509" "94496509" "subst" "0.00475243" "01695" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Khan 2019:31212395}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94030953C>T" "" "VUS" ""
"0000474080" "1" "70" "1" "94466422" "94466422" "subst" "2.43651E-5" "01695" "ABCA4_000817" "g.94466422C>T" "" "{PMID:Khan 2019:31212395}" "" "" "unknown variant 2nd allele" "Unknown" "no" "" "0" "" "" "g.94000866C>T" "" "likely pathogenic" ""
"0000474081" "1" "90" "1" "94546185" "94546185" "del" "0" "01695" "ABCA4_000350" "g.94546185del" "" "{PMID:Khan 2019:31212395}" "" "" "unknown variant 2nd allele" "Germline" "yes" "" "0" "" "" "g.94080629del" "" "pathogenic" ""
"0000474082" "1" "10" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2019:31212395}" "" "" "unknown variant 2nd allele" "Germline" "yes" "" "0" "" "" "g.94010911T>A" "" "benign" ""
"0000474083" "1" "70" "1" "94467548" "94467548" "subst" "0.00295661" "01695" "ABCA4_000788" "g.94467548C>G" "" "{PMID:Khan 2019:31212395}" "" "" "unknown variant 2nd allele" "Germline" "yes" "" "0" "" "" "g.94001992C>G" "" "likely pathogenic" ""
"0000474084" "1" "10" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2019:31212395}" "" "" "unknown variant 2nd allele" "Unknown" "no" "" "0" "" "" "g.94010911T>A" "" "benign" ""
"0000474085" "1" "90" "1" "94486794" "94486794" "subst" "0" "01695" "ABCA4_000478" "g.94486794A>G" "" "{PMID:Khan 2019:31212395}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94021238A>G" "" "pathogenic" ""
"0000474086" "2" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Khan 2019:31212395}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94011395A>G" "" "pathogenic" ""
"0000474087" "2" "10" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2019:31212395}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94010911T>A" "" "benign" ""
"0000474088" "1" "90" "1" "94508435" "94508436" "dup" "0" "01695" "ABCA4_000998" "g.94508435_94508436dup" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94042879_94042880dup" "" "pathogenic" ""
"0000474089" "2" "10" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94010911T>A" "" "benign" ""
"0000474090" "1" "90" "1" "94564383" "94564383" "subst" "0" "01695" "ABCA4_000371" "g.94564383A>C" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94098827A>C" "" "pathogenic" ""
"0000474091" "2" "50" "1" "94496509" "94496509" "subst" "0.00475243" "01695" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94030953C>T" "" "VUS" ""
"0000474092" "1" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Khan 2019:31212395}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic" ""
"0000474093" "2" "70" "1" "94512611" "94512611" "dup" "0" "01695" "ABCA4_001060" "g.94512611dup" "" "{PMID:Khan 2019:31212395}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94047055dup" "" "likely pathogenic" ""
"0000474094" "1" "70" "1" "94467476" "94467476" "subst" "0" "01695" "ABCA4_000781" "g.94467476C>T" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94001920C>T" "" "likely pathogenic" ""
"0000474095" "2" "50" "1" "94496509" "94496509" "subst" "0.00475243" "01695" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94030953C>T" "" "VUS" ""
"0000474096" "1" "70" "1" "94564544" "94564544" "subst" "0.000432798" "01695" "ABCA4_000383" "g.94564544C>T" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94098988C>T" "" "likely pathogenic" ""
"0000474097" "0" "70" "1" "94506943" "94506943" "subst" "8.12183E-6" "01695" "ABCA4_001061" "g.94506943A>G" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94041387A>G" "" "likely pathogenic" ""
"0000474098" "0" "10" "1" "94497563" "94497563" "subst" "0.00492504" "01695" "ABCA4_000090" "g.94497563C>T" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94032007C>T" "" "benign" ""
"0000474099" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "rs76157638" "0" "" "" "g.94051698C>G" "" "likely pathogenic" ""
"0000474100" "0" "10" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94010911T>A" "" "benign" ""
"0000474101" "1" "70" "1" "94564462" "94564462" "subst" "4.06775E-5" "01695" "ABCA4_000380" "g.94564462C>G" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94098906C>G" "" "likely pathogenic" ""
"0000474102" "1" "70" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Khan 2019:31212395}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94001068C>T" "" "likely pathogenic" ""
"0000474103" "2" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Khan 2019:31212395}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94011395A>G" "" "pathogenic" ""
"0000474104" "2" "10" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2019:31212395}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94010911T>A" "" "benign" ""
"0000474105" "1" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Khan 2019:31212395}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic" ""
"0000474106" "2" "50" "1" "94492937" "94492937" "subst" "0" "01695" "ABCA4_000529" "g.94492937G>A" "" "{PMID:Khan 2019:31212395}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94027381G>A" "" "VUS" ""
"0000474107" "1" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Khan 2019:31212395}" "" "" "" "Germline" "yes" "rs76157638" "0" "" "" "g.94051698C>G" "" "likely pathogenic" ""
"0000474108" "1" "10" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2019:31212395}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94010911T>A" "" "benign" ""
"0000474109" "2" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Khan 2019:31212395}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94011395A>G" "" "pathogenic" ""
"0000474110" "2" "10" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2019:31212395}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94010911T>A" "" "benign" ""
"0000474111" "1" "70" "1" "94480178" "94480178" "subst" "2.43692E-5" "01695" "ABCA4_000005" "g.94480178G>T" "" "{PMID:Khan 2019:31212395}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94014622G>T" "" "likely pathogenic" ""
"0000474112" "2" "70" "1" "94471037" "94471037" "subst" "0" "01695" "ABCA4_001062" "g.94471037T>C" "" "{PMID:Khan 2019:31212395}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94005481T>C" "" "likely pathogenic" ""
"0000474113" "1" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "rs76157638" "0" "" "" "g.94051698C>G" "" "likely pathogenic" ""
"0000474114" "0" "10" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94010911T>A" "" "benign" ""
"0000474115" "2" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic" ""
"0000474116" "1" "70" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94098928G>A" "" "likely pathogenic" ""
"0000474117" "2" "70" "1" "94520853" "94520853" "subst" "8.14783E-6" "01695" "ABCA4_000729" "g.94520853C>T" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94055297C>T" "" "likely pathogenic" ""
"0000474118" "1" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94029515C>T" "" "likely pathogenic" ""
"0000474119" "0" "10" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94010911T>A" "" "benign" ""
"0000474120" "1" "70" "1" "94496583" "94496583" "subst" "2.03092E-5" "01695" "ABCA4_000190" "g.94496583A>G" "" "{PMID:Khan 2019:31212395}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94031027A>G" "" "likely pathogenic" ""
"0000474121" "1" "70" "1" "94486896" "94486896" "subst" "3.65562E-5" "01695" "ABCA4_000085" "g.94486896G>A" "" "{PMID:Khan 2019:31212395}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94021340G>A" "" "likely pathogenic" ""
"0000474122" "2" "50" "1" "94484001" "94484001" "subst" "0" "01695" "ABCA4_000016" "g.94484001C>T" "" "{PMID:Khan 2019:31212395}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94018445C>T" "" "VUS" ""
"0000474123" "1" "10" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2019:31212395}" "" "" "unknown variant 2nd allele" "Unknown" "no" "" "0" "" "" "g.94010911T>A" "" "benign" ""
"0000474124" "1" "70" "1" "94471055" "94471055" "subst" "0.00035346" "01695" "ABCA4_000029" "g.94471055C>T" "" "{PMID:Khan 2019:31212395}" "" "" "unknown variant 2nd allele" "Unknown" "no" "" "0" "" "" "g.94005499C>T" "" "likely pathogenic" ""
"0000474125" "1" "70" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Khan 2019:31212395}" "" "" "unknown variant 2nd allele" "Unknown" "no" "" "0" "" "" "g.94041345C>A" "" "likely pathogenic" ""
"0000474126" "1" "70" "1" "94486965" "94486965" "subst" "0" "01695" "ABCA4_001063" "g.94486965C>T" "" "{PMID:Khan 2019:31212395}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94021409C>T" "" "likely pathogenic" ""
"0000474127" "2" "70" "1" "94495001" "94495001" "subst" "0" "01695" "ABCA4_001064" "g.94495001C>T" "" "{PMID:Khan 2019:31212395}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94029445C>T" "" "likely pathogenic" ""
"0000474128" "1" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Khan 2019:31212395}" "" "" "unknown variant 2nd allele" "Unknown" "no" "rs76157638" "0" "" "" "g.94051698C>G" "" "likely pathogenic" ""
"0000474129" "1" "30" "1" "94487404" "94487404" "subst" "0.00244055" "01695" "ABCA4_000497" "g.94487404C>T" "" "{PMID:Khan 2019:31212395}" "" "" "unknown variant 2nd allele" "Unknown" "no" "" "0" "" "" "g.94021848C>T" "" "likely benign" ""
"0000474130" "1" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94011395A>G" "" "pathogenic" ""
"0000474131" "0" "10" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94010911T>A" "" "benign" ""
"0000474132" "1" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Khan 2019:31212395}" "" "" "unknown variant 2nd allele" "Unknown" "no" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic" ""
"0000474133" "1" "50" "1" "94577158" "94577158" "subst" "0" "01695" "ABCA4_001065" "g.94577158A>T" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94111602A>T" "" "VUS" ""
"0000474134" "2" "10" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94010911T>A" "" "benign" ""
"0000474135" "1" "10" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2019:31212395}" "" "" "unknown variant 2nd allele" "Unknown" "no" "" "0" "" "" "g.94010911T>A" "" "benign" ""
"0000474136" "1" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic" ""
"0000474137" "2" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94011395A>G" "" "pathogenic" ""
"0000474138" "0" "10" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94010911T>A" "" "benign" ""
"0000474139" "1" "70" "1" "94467548" "94467548" "subst" "0.00295661" "01695" "ABCA4_000788" "g.94467548C>G" "" "{PMID:Khan 2019:31212395}" "" "" "unknown variant 2nd allele" "Unknown" "no" "" "0" "" "" "g.94001992C>G" "" "likely pathogenic" ""
"0000474140" "1" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000474141" "2" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94011395A>G" "" "pathogenic" ""
"0000474142" "0" "10" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94010911T>A" "" "benign" ""
"0000474143" "1" "10" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2019:31212395}" "" "" "unknown variant 2nd allele" "Unknown" "no" "" "0" "" "" "g.94010911T>A" "" "benign" ""
"0000474144" "1" "50" "1" "94568675" "94568675" "subst" "0.00146249" "01695" "ABCA4_000210" "g.94568675T>C" "" "{PMID:Khan 2019:31212395}" "" "" "unknown variant 2nd allele" "Unknown" "no" "" "0" "" "" "g.94103119T>C" "" "VUS" ""
"0000474145" "1" "10" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2019:31212395}" "" "" "unknown variant 2nd allele" "Unknown" "no" "" "0" "" "" "g.94010911T>A" "" "benign" ""
"0000474146" "1" "70" "1" "94564408" "94564408" "subst" "4.06128E-6" "01695" "ABCA4_001066" "g.94564408A>G" "" "{PMID:Khan 2019:31212395}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94098852A>G" "" "likely pathogenic" ""
"0000474147" "2" "50" "1" "94496509" "94496509" "subst" "0.00475243" "01695" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Khan 2019:31212395}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94030953C>T" "" "VUS" ""
"0000474148" "1" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Khan 2019:31212395}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94011395A>G" "" "pathogenic" ""
"0000474149" "1" "10" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2019:31212395}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94010911T>A" "" "benign" ""
"0000474150" "2" "10" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2019:31212395}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94010911T>A" "" "benign" ""
"0000474151" "1" "10" "1" "94505604" "94505604" "subst" "0.00645586" "01695" "ABCA4_000092" "g.94505604A>C" "" "{PMID:Khan 2019:31212395}" "" "" "unknown variant 2nd allele" "Unknown" "no" "" "0" "" "" "g.94040048A>C" "" "VUS" ""
"0000474152" "1" "70" "1" "94467442" "94467442" "subst" "0" "01695" "ABCA4_001067" "g.94467442A>G" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94001886A>G" "" "likely pathogenic" ""
"0000474153" "2" "10" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94010911T>A" "" "benign" ""
"0000474154" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Khan 2019:31212395}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000474155" "1" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Khan 2019:31212395}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic" ""
"0000474156" "2" "10" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2019:31212395}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94010911T>A" "" "benign" ""
"0000474157" "1" "70" "1" "94471055" "94471055" "subst" "0.00035346" "01695" "ABCA4_000029" "g.94471055C>T" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94005499C>T" "" "likely pathogenic" ""
"0000474158" "2" "70" "1" "94486888" "94486888" "del" "0" "01695" "ABCA4_001068" "g.94486888del" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94021332del" "" "likely pathogenic" ""
"0000474159" "1" "70" "1" "94520684" "94520684" "subst" "0" "01695" "ABCA4_001069" "g.94520684A>G" "" "{PMID:Khan 2019:31212395}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94055128A>G" "" "likely pathogenic" ""
"0000474160" "2" "50" "1" "94484001" "94484001" "subst" "0" "01695" "ABCA4_000016" "g.94484001C>T" "" "{PMID:Khan 2019:31212395}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94018445C>T" "" "VUS" ""
"0000474161" "1" "10" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2019:31212395}" "" "" "unknown variant 2nd allele" "Unknown" "no" "" "0" "" "" "g.94010911T>A" "" "benign" ""
"0000474162" "1" "10" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2019:31212395}" "" "" "unknown variant 2nd allele" "Unknown" "no" "" "0" "" "" "g.94010911T>A" "" "benign" ""
"0000474163" "1" "90" "1" "94486794" "94486794" "subst" "0" "01695" "ABCA4_000478" "g.94486794A>G" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94021238A>G" "" "pathogenic" ""
"0000474164" "2" "50" "1" "94484001" "94484001" "subst" "0" "01695" "ABCA4_000016" "g.94484001C>T" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94018445C>T" "" "VUS" ""
"0000474165" "1" "70" "1" "94466628" "94466628" "subst" "0.000109748" "01695" "ABCA4_000094" "g.94466628G>A" "" "{PMID:Khan 2019:31212395}" "" "" "unknown variant 2nd allele" "Unknown" "no" "" "0" "" "" "g.94001072G>A" "" "likely pathogenic" ""
"0000474166" "1" "90" "1" "94497495" "94497495" "del" "0" "01695" "ABCA4_000584" "g.94497495del" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94031939del" "" "pathogenic" ""
"0000474167" "2" "70" "1" "94466628" "94466628" "subst" "0.000109748" "01695" "ABCA4_000094" "g.94466628G>A" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94001072G>A" "" "likely pathogenic" ""
"0000474168" "1" "90" "1" "94480248" "94480248" "del" "0" "01695" "ABCA4_001056" "g.94480248del" "" "{PMID:Khan 2019:31212395}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94014692del" "" "pathogenic" ""
"0000474169" "2" "50" "1" "94496509" "94496509" "subst" "0.00475243" "01695" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Khan 2019:31212395}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94030953C>T" "" "VUS" ""
"0000474170" "1" "70" "1" "94546118" "94546118" "subst" "8.13326E-6" "01695" "ABCA4_000082" "g.94546118A>C" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94080562A>C" "" "likely pathogenic" ""
"0000474171" "2" "10" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94010911T>A" "" "benign" ""
"0000474172" "1" "50" "1" "94492937" "94492937" "subst" "0" "01695" "ABCA4_000529" "g.94492937G>A" "" "{PMID:Khan 2019:31212395}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94027381G>A" "" "VUS" ""
"0000474173" "2" "10" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2019:31212395}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94010911T>A" "" "benign" ""
"0000474174" "1" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Khan 2019:31212395}" "" "" "unknown variant 2nd allele" "Unknown" "no" "rs76157638" "0" "" "" "g.94051698C>G" "" "likely pathogenic" ""
"0000474175" "1" "70" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Khan 2019:31212395}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94041345C>A" "" "likely pathogenic" ""
"0000474176" "2" "50" "1" "94496509" "94496509" "subst" "0.00475243" "01695" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Khan 2019:31212395}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94030953C>T" "" "VUS" ""
"0000474177" "2" "10" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2019:31212395}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94010911T>A" "" "benign" ""
"0000474178" "1" "70" "1" "94546118" "94546118" "subst" "8.13326E-6" "01695" "ABCA4_000082" "g.94546118A>C" "" "{PMID:Khan 2019:31212395}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94080562A>C" "" "likely pathogenic" ""
"0000474179" "2" "50" "1" "94493000" "94493000" "subst" "0" "01695" "ABCA4_000015" "g.94493000C>T" "" "{PMID:Khan 2019:31212395}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94027444C>T" "" "VUS" ""
"0000474180" "1" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "rs76157638" "0" "" "" "g.94051698C>G" "" "likely pathogenic" ""
"0000474181" "0" "10" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94010911T>A" "" "benign" ""
"0000474182" "2" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic" ""
"0000474183" "1" "70" "1" "94546118" "94546118" "subst" "8.13326E-6" "01695" "ABCA4_000082" "g.94546118A>C" "" "{PMID:Khan 2019:31212395}" "" "" "unknown variant 2nd allele" "Unknown" "no" "" "0" "" "" "g.94080562A>C" "" "likely pathogenic" ""
"0000474184" "1" "10" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94010911T>A" "" "benign" ""
"0000474185" "2" "30" "1" "94549602" "94549602" "subst" "0" "01695" "ABCA4_001070" "g.94549602A>G" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94084046A>G" "" "VUS" ""
"0000474186" "1" "70" "1" "94496583" "94496583" "subst" "2.03092E-5" "01695" "ABCA4_000190" "g.94496583A>G" "" "{PMID:Khan 2019:31212395}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94031027A>G" "" "likely pathogenic" ""
"0000474187" "1" "70" "1" "94486896" "94486896" "subst" "3.65562E-5" "01695" "ABCA4_000085" "g.94486896G>A" "" "{PMID:Khan 2019:31212395}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94021340G>A" "" "likely pathogenic" ""
"0000474188" "2" "30" "1" "94568686" "94568686" "subst" "0.00258122" "01695" "ABCA4_000212" "g.94568686C>T" "" "{PMID:Khan 2019:31212395}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94103130C>T" "" "likely benign" ""
"0000474189" "2" "10" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2019:31212395}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94010911T>A" "" "benign" ""
"0000474190" "1" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Khan 2019:31212395}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94011395A>G" "" "pathogenic" ""
"0000474191" "1" "10" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2019:31212395}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94010911T>A" "" "benign" ""
"0000474192" "2" "50" "1" "94496509" "94496509" "subst" "0.00475243" "01695" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Khan 2019:31212395}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94030953C>T" "" "VUS" ""
"0000474193" "2" "10" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2019:31212395}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94010911T>A" "" "benign" ""
"0000474194" "1" "70" "1" "94546118" "94546118" "subst" "8.13326E-6" "01695" "ABCA4_000082" "g.94546118A>C" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94080562A>C" "" "likely pathogenic" ""
"0000474195" "2" "10" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94010911T>A" "" "benign" ""
"0000474196" "1" "70" "1" "94508322" "94508322" "subst" "1.62513E-5" "01695" "ABCA4_000128" "g.94508322C>T" "" "{PMID:Khan 2019:31212395}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94042766C>T" "" "likely pathogenic" ""
"0000474197" "2" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Khan 2019:31212395}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94011395A>G" "" "pathogenic" ""
"0000474198" "2" "10" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2019:31212395}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94010911T>A" "" "benign" ""
"0000474199" "1" "70" "1" "94544249" "94544249" "subst" "8.12196E-6" "01695" "ABCA4_000323" "g.94544249A>G" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94078693A>G" "" "likely pathogenic" ""
"0000474200" "2" "70" "1" "94544258" "94544258" "subst" "0" "01695" "ABCA4_001071" "g.94544258T>C" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94078702T>C" "" "likely pathogenic" ""
"0000474201" "1" "70" "1" "94471046" "94471046" "subst" "0" "01695" "ABCA4_000793" "g.94471046A>C" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94005490A>C" "" "likely pathogenic" ""
"0000474202" "2" "50" "1" "94496509" "94496509" "subst" "0.00475243" "01695" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94030953C>T" "" "VUS" ""
"0000474203" "1" "90" "1" "94508349" "94508349" "subst" "0" "01695" "ABCA4_001072" "g.94508349G>C" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94042793G>C" "" "pathogenic" ""
"0000474204" "2" "10" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94010911T>A" "" "benign" ""
"0000474205" "1" "70" "1" "94520723" "94520723" "subst" "0" "01695" "ABCA4_000716" "g.94520723A>C" "" "{PMID:Khan 2019:31212395}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94055167A>C" "" "likely pathogenic" ""
"0000474206" "2" "50" "1" "94484001" "94484001" "subst" "0" "01695" "ABCA4_000016" "g.94484001C>T" "" "{PMID:Khan 2019:31212395}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94018445C>T" "" "VUS" ""
"0000474207" "1" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Khan 2019:31212395}" "" "" "unknown variant 2nd allele" "Unknown" "no" "rs76157638" "0" "" "" "g.94051698C>G" "" "likely pathogenic" ""
"0000474208" "1" "10" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2019:31212395}" "" "" "unknown variant 2nd allele" "Unknown" "no" "" "0" "" "" "g.94010911T>A" "" "benign" ""
"0000474209" "1" "10" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2019:31212395}" "" "" "unknown variant 2nd allele" "Unknown" "no" "" "0" "" "" "g.94010911T>A" "" "benign" ""
"0000474210" "1" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000474211" "2" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94011395A>G" "" "pathogenic" ""
"0000474212" "0" "10" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94010911T>A" "" "benign" ""
"0000474213" "1" "10" "1" "94463617" "94463617" "subst" "0.0109114" "01695" "ABCA4_000013" "g.94463617C>T" "" "{PMID:Khan 2019:31212395}" "" "" "unknown variant 2nd allele" "Unknown" "no" "" "0" "" "" "g.93998061C>T" "" "benign" ""
"0000474214" "1" "50" "1" "94493000" "94493000" "subst" "0" "01695" "ABCA4_000015" "g.94493000C>T" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94027444C>T" "" "VUS" ""
"0000474215" "2" "10" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94010911T>A" "" "benign" ""
"0000474216" "1" "70" "1" "94528667" "94528667" "subst" "0" "01695" "ABCA4_001073" "g.94528667C>T" "" "{PMID:Khan 2019:31212395}" "" "" "unknown variant 2nd allele" "Unknown" "no" "" "0" "" "" "g.94063111C>T" "" "likely pathogenic" ""
"0000474217" "1" "10" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2019:31212395}" "" "" "unknown variant 2nd allele" "Unknown" "no" "" "0" "" "" "g.94010911T>A" "" "benign" ""
"0000474218" "1" "90" "1" "94508435" "94508436" "dup" "0" "01695" "ABCA4_000998" "g.94508435_94508436dup" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94042879_94042880dup" "" "pathogenic" ""
"0000474219" "2" "70" "1" "94528287" "94528287" "subst" "0" "01695" "ABCA4_001074" "g.94528287C>T" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94062731C>T" "" "likely pathogenic" ""
"0000474220" "1" "70" "1" "94546111" "94546111" "subst" "0" "01695" "ABCA4_000340" "g.94546111T>C" "" "{PMID:Khan 2019:31212395}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94080555T>C" "" "likely pathogenic" ""
"0000474221" "2" "50" "1" "94484001" "94484001" "subst" "0" "01695" "ABCA4_000016" "g.94484001C>T" "" "{PMID:Khan 2019:31212395}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94018445C>T" "" "VUS" ""
"0000474222" "1" "70" "1" "94546118" "94546118" "subst" "8.13326E-6" "01695" "ABCA4_000082" "g.94546118A>C" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94080562A>C" "" "likely pathogenic" ""
"0000474223" "2" "10" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94010911T>A" "" "benign" ""
"0000474224" "1" "90" "1" "94564383" "94564383" "subst" "0" "01695" "ABCA4_000371" "g.94564383A>C" "" "{PMID:Khan 2019:31212395}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94098827A>C" "" "pathogenic" ""
"0000474225" "2" "50" "1" "94484001" "94484001" "subst" "0" "01695" "ABCA4_000016" "g.94484001C>T" "" "{PMID:Khan 2019:31212395}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94018445C>T" "" "VUS" ""
"0000474226" "1" "70" "1" "94544253" "94544253" "subst" "0" "01695" "ABCA4_001075" "g.94544253T>C" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94078697T>C" "" "likely pathogenic" ""
"0000474227" "2" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94011395A>G" "" "pathogenic" ""
"0000474228" "0" "10" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94010911T>A" "" "benign" ""
"0000474229" "1" "70" "1" "94564432" "94564432" "subst" "0" "01695" "ABCA4_001029" "g.94564432A>G" "" "{PMID:Khan 2019:31212395}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94098876A>G" "" "likely pathogenic" ""
"0000474230" "1" "10" "1" "94463617" "94463617" "subst" "0.0109114" "01695" "ABCA4_000013" "g.94463617C>T" "" "{PMID:Khan 2019:31212395}" "" "" "" "Germline" "yes" "" "0" "" "" "g.93998061C>T" "" "benign" ""
"0000474231" "2" "50" "1" "94484001" "94484001" "subst" "0" "01695" "ABCA4_000016" "g.94484001C>T" "" "{PMID:Khan 2019:31212395}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94018445C>T" "" "VUS" ""
"0000474232" "1" "70" "1" "94497334" "94497334" "subst" "0" "01695" "ABCA4_001076" "g.94497334C>G" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94031778C>G" "" "likely pathogenic" ""
"0000474233" "2" "50" "1" "94496509" "94496509" "subst" "0.00475243" "01695" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94030953C>T" "" "VUS" ""
"0000474234" "1" "70" "1" "94467468" "94467468" "del" "0" "01695" "ABCA4_001077" "g.94467468del" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94001912del" "" "likely pathogenic" ""
"0000474235" "2" "50" "1" "94496509" "94496509" "subst" "0.00475243" "01695" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94030953C>T" "" "VUS" ""
"0000474236" "0" "10" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94010911T>A" "" "benign" ""
"0000474237" "1" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Khan 2019:31212395}" "" "" "unknown variant 2nd allele" "Unknown" "no" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000474238" "1" "50" "1" "94483979" "94483979" "subst" "0" "01695" "ABCA4_000018" "g.94483979C>T" "" "{PMID:Khan 2019:31212395}" "" "" "unknown variant 2nd allele" "Unknown" "no" "" "0" "" "" "g.94018423C>T" "" "VUS" ""
"0000474239" "1" "70" "1" "94471037" "94471037" "subst" "0" "01695" "ABCA4_001062" "g.94471037T>C" "" "{PMID:Khan 2019:31212395}" "" "" "unknown variant 2nd allele" "Unknown" "no" "" "0" "" "" "g.94005481T>C" "" "likely pathogenic" ""
"0000474240" "1" "70" "1" "94526295" "94526295" "subst" "3.69731E-5" "01695" "ABCA4_000114" "g.94526295C>T" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94060739C>T" "" "likely pathogenic" ""
"0000474241" "2" "10" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94010911T>A" "" "benign" ""
"0000474242" "1" "30" "1" "94496039" "94496039" "subst" "0.00157963" "01695" "ABCA4_000552" "g.94496039C>T" "" "{PMID:Khan 2019:31212395}" "" "" "unknown variant 2nd allele" "Unknown" "no" "" "0" "" "" "g.94030483C>T" "" "VUS" ""
"0000474243" "1" "30" "1" "94568686" "94568686" "subst" "0.00258122" "01695" "ABCA4_000212" "g.94568686C>T" "" "{PMID:Khan 2019:31212395}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94103130C>T" "" "likely benign" ""
"0000474244" "1" "70" "1" "94528819" "94528819" "subst" "2.03128E-5" "01695" "ABCA4_000078" "g.94528819G>A" "" "{PMID:Khan 2019:31212395}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94063263G>A" "" "likely pathogenic" ""
"0000474245" "2" "50" "1" "94493000" "94493000" "subst" "0" "01695" "ABCA4_000015" "g.94493000C>T" "" "{PMID:Khan 2019:31212395}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94027444C>T" "" "VUS" ""
"0000474246" "1" "90" "1" "94520690" "94520690" "subst" "2.03102E-5" "01695" "ABCA4_000149" "g.94520690C>T" "" "{PMID:Khan 2019:31212395}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94055134C>T" "" "pathogenic" ""
"0000474247" "2" "50" "1" "94484001" "94484001" "subst" "0" "01695" "ABCA4_000016" "g.94484001C>T" "" "{PMID:Khan 2019:31212395}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94018445C>T" "" "VUS" ""
"0000474248" "1" "70" "1" "94496547" "94496547" "subst" "4.06345E-6" "01695" "ABCA4_000559" "g.94496547C>A" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94030991C>A" "" "likely pathogenic" ""
"0000474249" "2" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94011395A>G" "" "pathogenic" ""
"0000474250" "0" "10" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94010911T>A" "" "benign" ""
"0000474251" "1" "50" "1" "94492937" "94492937" "subst" "0" "01695" "ABCA4_000529" "g.94492937G>A" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94027381G>A" "" "VUS" ""
"0000474252" "2" "50" "1" "94496509" "94496509" "subst" "0.00475243" "01695" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94030953C>T" "" "VUS" ""
"0000474253" "1" "30" "1" "94568686" "94568686" "subst" "0.00258122" "01695" "ABCA4_000212" "g.94568686C>T" "" "{PMID:Khan 2019:31212395}" "" "" "unknown variant 2nd allele" "Unknown" "no" "" "0" "" "" "g.94103130C>T" "" "likely benign" ""
"0000474254" "1" "10" "1" "94463617" "94463617" "subst" "0.0109114" "01695" "ABCA4_000013" "g.94463617C>T" "" "{PMID:Khan 2019:31212395}" "" "" "unknown variant 2nd allele" "Unknown" "no" "" "0" "" "" "g.93998061C>T" "" "benign" ""
"0000474255" "1" "90" "1" "94496571" "94496571" "subst" "4.06174E-6" "01695" "ABCA4_000111" "g.94496571G>A" "" "{PMID:Khan 2019:31212395}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94031015G>A" "" "pathogenic" ""
"0000474256" "2" "10" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2019:31212395}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94010911T>A" "" "benign" ""
"0000474257" "1" "10" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2019:31212395}" "" "" "unknown variant 2nd allele" "Unknown" "no" "" "0" "" "" "g.94010911T>A" "" "benign" ""
"0000474258" "1" "70" "1" "94506959" "94506959" "subst" "8.12321E-6" "01695" "ABCA4_001078" "g.94506959C>T" "" "{PMID:Khan 2019:31212395}" "" "" "unknown variant 2nd allele" "Unknown" "no" "" "0" "" "" "g.94041403C>T" "" "likely pathogenic" ""
"0000474259" "1" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94098794C>A" "" "pathogenic" ""
"0000474260" "2" "10" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94010911T>A" "" "benign" ""
"0000474261" "1" "90" "1" "94485137" "94485137" "subst" "0" "01695" "ABCA4_000464" "g.94485137C>T" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94019581C>T" "" "pathogenic" ""
"0000474262" "2" "50" "1" "94496509" "94496509" "subst" "0.00475243" "01695" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94030953C>T" "" "VUS" ""
"0000474263" "1" "70" "1" "94564460" "94564460" "subst" "8.1355E-6" "01695" "ABCA4_000056" "g.94564460G>A" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94098904G>A" "" "likely pathogenic" ""
"0000474264" "2" "10" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94010911T>A" "" "benign" ""
"0000474265" "1" "30" "1" "94549602" "94549602" "subst" "0" "01695" "ABCA4_001070" "g.94549602A>G" "" "{PMID:Khan 2019:31212395}" "" "" "unknown variant 2nd allele" "Unknown" "no" "" "0" "" "" "g.94084046A>G" "" "VUS" ""
"0000474266" "1" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Khan 2019:31212395}" "" "" "unknown variant 2nd allele" "Unknown" "no" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic" ""
"0000474267" "1" "70" "1" "94517248" "94517249" "del" "0" "01695" "ABCA4_001079" "g.94517248_94517249del" "" "{PMID:Khan 2019:31212395}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94051692_94051693del" "" "likely pathogenic" ""
"0000474268" "2" "50" "1" "94492937" "94492937" "subst" "0" "01695" "ABCA4_000529" "g.94492937G>A" "" "{PMID:Khan 2019:31212395}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94027381G>A" "" "VUS" ""
"0000474269" "1" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic" ""
"0000474270" "2" "10" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94010911T>A" "" "benign" ""
"0000474271" "1" "90" "1" "94508435" "94508436" "dup" "0" "01695" "ABCA4_000998" "g.94508435_94508436dup" "" "{PMID:Khan 2019:31212395}" "" "" "unknown variant 2nd allele" "Germline" "yes" "" "0" "" "" "g.94042879_94042880dup" "" "pathogenic" ""
"0000474272" "1" "70" "1" "94568581" "94568581" "subst" "3.65458E-5" "01695" "ABCA4_000202" "g.94568581C>T" "" "{PMID:Khan 2019:31212395}" "" "" "unknown variant 2nd allele" "Unknown" "no" "" "0" "" "" "g.94103025C>T" "" "likely pathogenic" ""
"0000474273" "1" "70" "1" "94520760" "94520760" "subst" "0" "01695" "ABCA4_001080" "g.94520760C>A" "" "{PMID:Khan 2019:31212395}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94055204C>A" "" "likely pathogenic" ""
"0000474274" "2" "90" "1" "94497495" "94497495" "del" "0" "01695" "ABCA4_000584" "g.94497495del" "" "{PMID:Khan 2019:31212395}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94031939del" "" "pathogenic" ""
"0000474275" "1" "30" "1" "94549602" "94549602" "subst" "0" "01695" "ABCA4_001070" "g.94549602A>G" "" "{PMID:Khan 2019:31212395}" "" "" "unknown variant 2nd allele" "Unknown" "no" "" "0" "" "" "g.94084046A>G" "" "VUS" ""
"0000474276" "1" "70" "1" "94546118" "94546118" "subst" "8.13326E-6" "01695" "ABCA4_000082" "g.94546118A>C" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94080562A>C" "" "likely pathogenic" ""
"0000474277" "2" "10" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94010911T>A" "" "benign" ""
"0000474278" "1" "50" "1" "94496509" "94496509" "subst" "0.00475243" "01695" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Khan 2019:31212395}" "" "" "unknown variant 2nd allele" "Unknown" "no" "" "0" "" "" "g.94030953C>T" "" "VUS" ""
"0000474279" "1" "90" "1" "94467460" "94467461" "del" "0" "01695" "ABCA4_000778" "g.94467460_94467461del" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94001904_94001905del" "" "pathogenic" ""
"0000474280" "2" "50" "1" "94496509" "94496509" "subst" "0.00475243" "01695" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94030953C>T" "" "VUS" ""
"0000474281" "1" "70" "1" "94476893" "94476893" "subst" "0" "01695" "ABCA4_001059" "g.94476893G>A" "" "{PMID:Khan 2019:31212395}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94011337G>A" "" "likely pathogenic" ""
"0000474282" "2" "10" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2019:31212395}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94010911T>A" "" "benign" ""
"0000474283" "1" "70" "1" "94487469" "94487469" "del" "0" "01695" "ABCA4_001081" "g.94487469del" "" "{PMID:Khan 2019:31212395}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94021913del" "" "likely pathogenic" ""
"0000474284" "2" "10" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2019:31212395}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94010911T>A" "" "benign" ""
"0000474285" "1" "10" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2019:31212395}" "" "" "unknown variant 2nd allele" "Unknown" "no" "" "0" "" "" "g.94010911T>A" "" "benign" ""
"0000474286" "1" "70" "1" "94574132" "94574132" "subst" "4.06151E-6" "01695" "ABCA4_001082" "g.94574132C>T" "" "{PMID:Khan 2019:31212395}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94108576C>T" "" "likely pathogenic" ""
"0000474287" "1" "30" "1" "94496039" "94496039" "subst" "0.00157963" "01695" "ABCA4_000552" "g.94496039C>T" "" "{PMID:Khan 2019:31212395}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94030483C>T" "" "likely benign" ""
"0000474288" "2" "50" "1" "94492936" "94492936" "subst" "0" "01695" "ABCA4_001083" "g.94492936G>C" "" "{PMID:Khan 2019:31212395}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94027380G>C" "" "VUS" ""
"0000474289" "1" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Khan 2019:31212395}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94011395A>G" "" "pathogenic" ""
"0000474290" "1" "10" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2019:31212395}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94010911T>A" "" "benign" ""
"0000474291" "2" "50" "1" "94496509" "94496509" "subst" "0.00475243" "01695" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Khan 2019:31212395}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94030953C>T" "" "VUS" ""
"0000474292" "1" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "rs76157638" "0" "" "" "g.94051698C>G" "" "likely pathogenic" ""
"0000474293" "0" "10" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94010911T>A" "" "benign" ""
"0000474294" "2" "50" "1" "94493895" "94493895" "subst" "0" "01695" "ABCA4_001084" "g.94493895G>A" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94028339G>A" "" "VUS" ""
"0000474295" "1" "90" "1" "94520684" "94520684" "del" "0" "01695" "ABCA4_000709" "g.94520684del" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94055128del" "" "pathogenic" ""
"0000474296" "2" "10" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94010911T>A" "" "benign" ""
"0000474297" "1" "50" "1" "94496509" "94496509" "subst" "0.00475243" "01695" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Khan 2019:31212395}" "" "" "unknown variant 2nd allele" "Unknown" "no" "" "0" "" "" "g.94030953C>T" "" "VUS" ""
"0000474298" "1" "70" "1" "94467548" "94467548" "subst" "0.00295661" "01695" "ABCA4_000788" "g.94467548C>G" "" "{PMID:Khan 2019:31212395}" "" "" "unknown variant 2nd allele" "Unknown" "no" "" "0" "" "" "g.94001992C>G" "" "likely pathogenic" ""
"0000474299" "1" "70" "1" "94495001" "94495001" "subst" "0" "01695" "ABCA4_001064" "g.94495001C>T" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94029445C>T" "" "likely pathogenic" ""
"0000474300" "2" "70" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94098928G>A" "" "likely pathogenic" ""
"0000474301" "1" "70" "1" "94496583" "94496583" "subst" "2.03092E-5" "01695" "ABCA4_000190" "g.94496583A>G" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94031027A>G" "" "likely pathogenic" ""
"0000474302" "2" "10" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94010911T>A" "" "benign" ""
"0000474303" "1" "10" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2019:31212395}" "" "" "unknown variant 2nd allele" "Unknown" "no" "" "0" "" "" "g.94010911T>A" "" "benign" ""
"0000474304" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000474305" "0" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic" ""
"0000474306" "2" "50" "1" "94496509" "94496509" "subst" "0.00475243" "01695" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94030953C>T" "" "VUS" ""
"0000474307" "1" "70" "1" "94502848" "94502848" "dup" "0" "01695" "ABCA4_001085" "g.94502848dup" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94037292dup" "" "likely pathogenic" ""
"0000474308" "2" "10" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94010911T>A" "" "benign" ""
"0000474309" "1" "10" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2019:31212395}" "" "" "unknown variant 2nd allele" "Unknown" "no" "" "0" "" "" "g.94010911T>A" "" "benign" ""
"0000474310" "1" "70" "1" "94506789" "94506789" "del" "0" "01695" "ABCA4_001086" "g.94506789del" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94041233del" "" "likely pathogenic" ""
"0000474311" "2" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000474312" "1" "70" "1" "94463428" "94463428" "subst" "1.62621E-5" "01695" "ABCA4_000854" "g.94463428T>C" "" "{PMID:Khan 2019:31212395}" "" "" "unknown variant 2nd allele" "Unknown" "no" "" "0" "" "" "g.93997872T>C" "" "likely pathogenic" ""
"0000474313" "1" "10" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2019:31212395}" "" "" "unknown variant 2nd allele" "Unknown" "no" "" "0" "" "" "g.94010911T>A" "" "benign" ""
"0000474314" "1" "70" "1" "94471055" "94471055" "subst" "0.00035346" "01695" "ABCA4_000029" "g.94471055C>T" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94005499C>T" "" "likely pathogenic" ""
"0000474315" "2" "30" "1" "94528142" "94528142" "subst" "0.00153303" "01695" "ABCA4_000125" "g.94528142A>C" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94062586A>C" "" "likely benign" ""
"0000474316" "1" "10" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2019:31212395}" "" "" "unknown variant 2nd allele" "Unknown" "no" "" "0" "" "" "g.94010911T>A" "" "benign" ""
"0000474317" "1" "70" "1" "94485269" "94485269" "subst" "0" "01695" "ABCA4_000146" "g.94485269A>G" "" "{PMID:Khan 2019:31212395}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94019713A>G" "" "likely pathogenic" ""
"0000474318" "2" "10" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2019:31212395}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94010911T>A" "" "benign" ""
"0000474319" "1" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Khan 2019:31212395}" "" "" "unknown variant 2nd allele" "Unknown" "no" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000474320" "1" "70" "1" "94485185" "94485185" "subst" "0" "01695" "ABCA4_001087" "g.94485185C>A" "" "{PMID:Khan 2019:31212395}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94019629C>A" "" "likely pathogenic" ""
"0000474321" "2" "10" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2019:31212395}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94010911T>A" "" "benign" ""
"0000474322" "1" "70" "1" "94502906" "94502906" "subst" "0.000314086" "01695" "ABCA4_000605" "g.94502906C>T" "" "{PMID:Khan 2019:31212395}" "" "" "unknown variant 2nd allele" "Unknown" "no" "" "0" "" "" "g.94037350C>T" "" "likely pathogenic" ""
"0000474323" "1" "70" "1" "94487399" "94487399" "subst" "7.30959E-5" "01695" "ABCA4_000038" "g.94487399T>C" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94021843T>C" "" "likely pathogenic" ""
"0000474324" "2" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94011395A>G" "" "pathogenic" ""
"0000474325" "0" "10" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94010911T>A" "" "benign" ""
"0000474326" "1" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic" ""
"0000474327" "2" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94011395A>G" "" "pathogenic" ""
"0000474328" "0" "10" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94010911T>A" "" "benign" ""
"0000474329" "1" "70" "1" "94467548" "94467548" "subst" "0.00295661" "01695" "ABCA4_000788" "g.94467548C>G" "" "{PMID:Khan 2019:31212395}" "" "" "unknown variant 2nd allele" "Unknown" "no" "" "0" "" "" "g.94001992C>G" "" "VUS" ""
"0000474330" "1" "70" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Khan 2019:31212395}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94042767G>A" "" "likely pathogenic" ""
"0000474331" "1" "30" "1" "94568686" "94568686" "subst" "0.00258122" "01695" "ABCA4_000212" "g.94568686C>T" "" "{PMID:Khan 2019:31212395}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94103130C>T" "" "likely benign" ""
"0000474332" "1" "70" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Khan 2019:31212395}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94001068C>T" "" "likely pathogenic" ""
"0000474333" "2" "70" "1" "94497514" "94497524" "delins" "0" "01695" "ABCA4_001088" "g.94497514_94497524delinsCCC" "" "{PMID:Khan 2019:31212395}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94031958_94031968delinsCCC" "" "likely pathogenic" ""
"0000474334" "1" "10" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2019:31212395}" "" "" "unknown variant 2nd allele" "Unknown" "no" "" "0" "" "" "g.94010911T>A" "" "benign" ""
"0000474335" "1" "90" "1" "94528714" "94528714" "subst" "0" "01695" "ABCA4_000296" "g.94528714G>A" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94063158G>A" "" "pathogenic" ""
"0000474336" "2" "10" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94010911T>A" "" "benign" ""
"0000474337" "1" "10" "1" "94497563" "94497563" "subst" "0.00492504" "01695" "ABCA4_000090" "g.94497563C>T" "" "{PMID:Khan 2019:31212395}" "" "" "unknown variant 2nd allele" "Unknown" "no" "" "0" "" "" "g.94032007C>T" "" "benign" ""
"0000474338" "1" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94098794C>A" "" "pathogenic" ""
"0000474339" "2" "10" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94010911T>A" "" "benign" ""
"0000474340" "1" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Khan 2019:31212395}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic" ""
"0000474341" "1" "70" "1" "94497392" "94497392" "subst" "0" "01695" "ABCA4_000577" "g.94497392G>A" "" "{PMID:Khan 2019:31212395}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94031836G>A" "" "likely pathogenic" ""
"0000474342" "2" "50" "1" "94484001" "94484001" "subst" "0" "01695" "ABCA4_000016" "g.94484001C>T" "" "{PMID:Khan 2019:31212395}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94018445C>T" "" "VUS" ""
"0000474343" "1" "10" "1" "94463617" "94463617" "subst" "0.0109114" "01695" "ABCA4_000013" "g.94463617C>T" "" "{PMID:Khan 2019:31212395}" "" "" "unknown variant 2nd allele" "Unknown" "no" "" "0" "" "" "g.93998061C>T" "" "VUS" ""
"0000474344" "1" "30" "1" "94514466" "94514466" "subst" "0.00192081" "01695" "ABCA4_000008" "g.94514466T>C" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94048910T>C" "" "likely benign" ""
"0000474345" "2" "10" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94010911T>A" "" "benign" ""
"0000474346" "1" "90" "1" "94463547" "94463548" "del" "0" "01695" "ABCA4_000804" "g.94463547_94463548del" "" "{PMID:Khan 2019:31212395}" "" "" "" "Germline" "yes" "" "0" "" "" "g.93997991_93997992del" "" "pathogenic" ""
"0000474347" "2" "10" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2019:31212395}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94010911T>A" "" "benign" ""
"0000474348" "1" "70" "1" "94485275" "94485275" "subst" "4.09068E-5" "01695" "ABCA4_001089" "g.94485275T>A" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94019719T>A" "" "likely pathogenic" ""
"0000474349" "2" "10" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94010911T>A" "" "benign" ""
"0000474350" "1" "70" "1" "94486895" "94486895" "subst" "3.24923E-5" "01695" "ABCA4_000484" "g.94486895C>T" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94021339C>T" "" "likely pathogenic" ""
"0000474351" "2" "10" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94010911T>A" "" "benign" ""
"0000474352" "1" "70" "1" "94480178" "94480178" "subst" "2.43692E-5" "01695" "ABCA4_000005" "g.94480178G>T" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94014622G>T" "" "likely pathogenic" ""
"0000474353" "2" "50" "1" "94577158" "94577158" "subst" "0" "01695" "ABCA4_001065" "g.94577158A>T" "" "{PMID:Khan 2019:31212395}" "" "" "" "Unknown" "no" "" "0" "" "" "g.94111602A>T" "" "VUS" ""
"0000474354" "1" "70" "1" "94466422" "94466422" "subst" "2.43651E-5" "01695" "ABCA4_000817" "g.94466422C>T" "" "{PMID:Khan 2019:31212395}" "" "" "unknown variant 2nd allele" "Unknown" "no" "" "0" "" "" "g.94000866C>T" "" "likely pathogenic" ""
"0000474355" "1" "50" "1" "94492937" "94492937" "subst" "0" "01695" "ABCA4_000529" "g.94492937G>A" "" "{PMID:Khan 2019:31212395}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94027381G>A" "" "VUS" ""
"0000474356" "2" "50" "1" "94484001" "94484001" "subst" "0" "01695" "ABCA4_000016" "g.94484001C>T" "" "{PMID:Khan 2019:31212395}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94018445C>T" "" "VUS" ""
"0000475715" "0" "50" "1" "94461709" "94461709" "subst" "4.06474E-6" "02591" "ABCA4_001094" "g.94461709G>A" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs757212387" "0" "" "" "g.93996153G>A" "" "VUS" ""
"0000475716" "0" "50" "1" "94461717" "94461717" "subst" "0.0703199" "02591" "ABCA4_000003" "g.94461717C>A" "47/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs6666652" "0" "" "" "g.93996161C>A" "" "VUS" ""
"0000475717" "0" "10" "1" "94461754" "94461754" "subst" "0.0642229" "02591" "ABCA4_000951" "g.94461754A>G" "47/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs1800717" "0" "" "" "g.93996198A>G" "" "benign" ""
"0000475718" "0" "90" "1" "94463537" "94463537" "subst" "0" "02591" "ABCA4_000803" "g.94463537G>T" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs61753045" "0" "" "" "g.93997981G>T" "" "pathogenic" ""
"0000475719" "0" "90" "1" "94466426" "94466426" "subst" "1.62433E-5" "02591" "ABCA4_000124" "g.94466426G>A" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs61750654" "0" "" "" "g.94000870G>A" "" "pathogenic" ""
"0000475720" "0" "50" "1" "94466604" "94466604" "subst" "0.000166548" "02591" "ABCA4_001095" "g.94466604C>T" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs202127235" "0" "" "" "g.94001048C>T" "" "VUS" ""
"0000475721" "0" "50" "1" "94466624" "94466624" "subst" "0.0014345" "02591" "ABCA4_000093" "g.94466624C>T" "5/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs62642564" "0" "" "" "g.94001068C>T" "" "VUS" ""
"0000475722" "3" "90" "1" "94466628" "94466628" "subst" "0.000109748" "02591" "ABCA4_000094" "g.94466628G>A" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs61750648" "0" "" "" "g.94001072G>A" "" "pathogenic" ""
"0000475723" "0" "50" "1" "94466639" "94466639" "subst" "0" "02591" "ABCA4_001096" "g.94466639T>G" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.94001083T>G" "" "VUS" ""
"0000475724" "0" "50" "1" "94467439" "94467439" "subst" "0" "02591" "ABCA4_001097" "g.94467439A>C" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.94001883A>C" "" "VUS" ""
"0000475725" "0" "50" "1" "94471025" "94471025" "subst" "0.00031698" "02591" "ABCA4_000096" "g.94471025C>T" "9/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs148460146" "0" "" "" "g.94005469C>T" "" "VUS" ""
"0000475726" "0" "90" "1" "94473266" "94473266" "subst" "8.14677E-6" "02591" "ABCA4_000389" "g.94473266C>T" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs61750639" "0" "" "" "g.94007710C>T" "" "pathogenic" ""
"0000475727" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "02591" "ABCA4_000046" "g.94473807C>T" "2/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs1800553" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000475728" "0" "90" "1" "94476417" "94476417" "subst" "0" "02591" "ABCA4_000416" "g.94476417C>T" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs62642563" "0" "" "" "g.94010861C>T" "" "pathogenic" ""
"0000475729" "0" "50" "1" "94476459" "94476459" "subst" "0" "02591" "ABCA4_001098" "g.94476459G>A" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.94010903G>A" "" "VUS" ""
"0000475730" "0" "50" "1" "94476477" "94476477" "subst" "0.000125969" "02591" "ABCA4_001099" "g.94476477G>A" "12/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs201707267" "0" "" "" "g.94010921G>A" "" "VUS" ""
"0000475731" "0" "50" "1" "94476827" "94476827" "subst" "0" "02591" "ABCA4_001100" "g.94476827C>T" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.94011271C>T" "" "VUS" ""
"0000475732" "0" "50" "1" "94486934" "94486934" "subst" "0" "02591" "ABCA4_001101" "g.94486934A>G" "2/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.94021378A>G" "" "VUS" ""
"0000475733" "0" "50" "1" "94487398" "94487398" "subst" "0" "02591" "ABCA4_001102" "g.94487398A>C" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.94021842A>C" "" "VUS" ""
"0000475734" "0" "50" "1" "94487404" "94487404" "subst" "0.00244055" "02591" "ABCA4_000497" "g.94487404C>T" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs113106943" "0" "" "" "g.94021848C>T" "" "VUS" ""
"0000475735" "0" "50" "1" "94487460" "94487460" "subst" "0.000113716" "02591" "ABCA4_000505" "g.94487460G>A" "5/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs185093512" "0" "" "" "g.94021904G>A" "" "VUS" ""
"0000475736" "0" "50" "1" "94487475" "94487475" "subst" "4.06144E-6" "02591" "ABCA4_001103" "g.94487475G>A" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs752150372" "0" "" "" "g.94021919G>A" "" "VUS" ""
"0000475737" "0" "90" "1" "94495021" "94495021" "subst" "0.000161713" "02591" "ABCA4_000538" "g.94495021C>T" "2/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs568792949" "0" "" "" "g.94029465C>T" "" "pathogenic" ""
"0000475738" "0" "90" "1" "94495078" "94495078" "subst" "8.37044E-6" "02591" "ABCA4_000042" "g.94495078A>G" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs61750146" "0" "" "" "g.94029522A>G" "" "pathogenic" ""
"0000475739" "0" "50" "1" "94495114" "94495114" "subst" "0" "02591" "ABCA4_001105" "g.94495114T>C" "2/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.94029558T>C" "" "VUS" ""
"0000475740" "0" "90" "1" "94496008" "94496008" "subst" "2.03056E-5" "02591" "ABCA4_000148" "g.94496008C>T" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs61750142" "0" "" "" "g.94030452C>T" "" "pathogenic" ""
"0000475741" "0" "90" "1" "94496039" "94496039" "subst" "0.00157963" "02591" "ABCA4_000552" "g.94496039C>T" "3/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs56357060" "0" "" "" "g.94030483C>T" "" "pathogenic" ""
"0000475742" "0" "50" "1" "94496053" "94496053" "subst" "0.00437371" "02591" "ABCA4_000556" "g.94496053G>A" "94/1203 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs1800549" "0" "" "" "g.94030497G>A" "" "VUS" ""
"0000475743" "0" "90" "1" "94496610" "94496610" "subst" "2.03128E-5" "02591" "ABCA4_000571" "g.94496610C>T" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs62642573" "0" "" "" "g.94031054C>T" "" "pathogenic" ""
"0000475744" "0" "50" "1" "94497383" "94497383" "subst" "0" "02591" "ABCA4_001106" "g.94497383A>G" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.94031827A>G" "" "VUS" ""
"0000475745" "0" "50" "1" "94502787" "94502787" "subst" "0" "02591" "ABCA4_001107" "g.94502787A>C" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.94037231A>C" "" "VUS" ""
"0000475746" "0" "50" "1" "94502888" "94502888" "subst" "0.00310941" "02591" "ABCA4_000603" "g.94502888A>G" "38/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs76258939" "0" "" "" "g.94037332A>G" "" "VUS" ""
"0000475747" "0" "50" "1" "94502889" "94502889" "subst" "4.0706E-6" "02591" "ABCA4_001108" "g.94502889T>G" "2/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.94037333T>G" "" "VUS" ""
"0000475748" "0" "10" "1" "94505659" "94505659" "subst" "0.000942724" "02591" "ABCA4_000921" "g.94505659C>A" "9/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs75267647" "0" "" "" "g.94040103C>A" "" "benign" ""
"0000475749" "0" "90" "1" "94508358" "94508358" "subst" "4.06167E-6" "02591" "ABCA4_000636" "g.94508358G>A" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs763267492" "0" "" "" "g.94042802G>A" "" "pathogenic" ""
"0000475750" "0" "50" "1" "94508918" "94508918" "subst" "0.000121946" "02591" "ABCA4_001109" "g.94508918C>T" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs187071406" "0" "" "" "g.94043362C>T" "" "VUS" ""
"0000475751" "0" "50" "1" "94508963" "94508963" "subst" "8.12645E-6" "02591" "ABCA4_001110" "g.94508963A>G" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs566342133" "0" "" "" "g.94043407A>G" "" "VUS" ""
"0000475752" "0" "50" "1" "94508965" "94508965" "subst" "0" "02591" "ABCA4_001111" "g.94508965C>G" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.94043409C>G" "" "VUS" ""
"0000475753" "0" "50" "1" "94510295" "94510295" "subst" "4.06065E-5" "02591" "ABCA4_001112" "g.94510295A>G" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs146140442" "0" "" "" "g.94044739A>G" "" "VUS" ""
"0000475754" "0" "90" "1" "94512499" "94512499" "subst" "0.000130029" "02591" "ABCA4_000072" "g.94512499T>C" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs201471607" "0" "" "" "g.94046943T>C" "" "pathogenic" ""
"0000475755" "0" "50" "1" "94512522" "94512542" "del" "0" "02591" "ABCA4_001113" "g.94512522_94512542del" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.94046966_94046986del" "" "VUS" ""
"0000475756" "0" "50" "1" "94512565" "94512565" "subst" "0.030364" "02591" "ABCA4_000002" "g.94512565C>T" "2/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs1801581" "0" "" "" "g.94047009C>T" "" "VUS" ""
"0000475757" "0" "50" "1" "94512602" "94512602" "subst" "0" "02591" "ABCA4_001114" "g.94512602C>A" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.94047046C>A" "" "VUS" ""
"0000475758" "0" "50" "1" "94512634" "94512634" "subst" "4.87928E-5" "02591" "ABCA4_001115" "g.94512634C>T" "2/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs376526710" "0" "" "" "g.94047078C>T" "" "VUS" ""
"0000475759" "0" "10" "1" "94512654" "94512654" "subst" "0.000566575" "02591" "ABCA4_001116" "g.94512654G>A" "10/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs76305791" "0" "" "" "g.94047098G>A" "" "benign" ""
"0000475760" "0" "50" "1" "94520790" "94520790" "subst" "4.06646E-6" "02591" "ABCA4_001117" "g.94520790T>C" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs769908894" "0" "" "" "g.94055234T>C" "" "VUS" ""
"0000475761" "0" "50" "1" "94526284" "94526284" "subst" "0.000347234" "02591" "ABCA4_001118" "g.94526284T>C" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs199590367" "0" "" "" "g.94060728T>C" "" "VUS" ""
"0000475762" "0" "50" "1" "94528208" "94528208" "subst" "0" "02591" "ABCA4_001119" "g.94528208C>G" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.94062652C>G" "" "VUS" ""
"0000475763" "0" "90" "1" "94528259" "94528259" "subst" "0" "02591" "ABCA4_001120" "g.94528259A>C" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs61749411" "0" "" "" "g.94062703A>C" "" "pathogenic" ""
"0000475764" "3" "90" "1" "94528666" "94528666" "subst" "0" "02591" "ABCA4_000289" "g.94528666A>C" "2/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs61751385" "0" "" "" "g.94063110A>C" "" "pathogenic" ""
"0000475765" "0" "50" "1" "94528729" "94528729" "subst" "0.000255885" "02591" "ABCA4_000297" "g.94528729C>T" "33/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs74516571" "0" "" "" "g.94063173C>T" "" "VUS" ""
"0000475766" "0" "50" "1" "94528813" "94528813" "subst" "1.62485E-5" "02591" "ABCA4_001121" "g.94528813G>C" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs748615703" "0" "" "" "g.94063257G>C" "" "VUS" ""
"0000475767" "0" "90" "1" "94543268" "94543268" "subst" "0.000778106" "02591" "ABCA4_000306" "g.94543268C>T" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs140482171" "0" "" "" "g.94077712C>T" "" "pathogenic" ""
"0000475768" "0" "90" "1" "94543269" "94543269" "subst" "0.000179087" "02591" "ABCA4_000307" "g.94543269G>A" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs752786160" "0" "" "" "g.94077713G>A" "" "pathogenic" ""
"0000475769" "0" "50" "1" "94544151" "94544151" "subst" "0" "02591" "ABCA4_001122" "g.94544151T>G" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.94078595T>G" "" "VUS" ""
"0000475770" "0" "50" "1" "94544208" "94544208" "subst" "0.000158364" "02591" "ABCA4_000320" "g.94544208C>T" "21/1187 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs201117452" "0" "" "" "g.94078652C>T" "" "VUS" ""
"0000475771" "0" "10" "1" "94544234" "94544234" "subst" "0.255245" "02591" "ABCA4_000322" "g.94544234T>C" "453/1203 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs3112831" "0" "" "" "g.94078678T>C" "" "benign" ""
"0000475772" "0" "50" "1" "94548975" "94548975" "subst" "0.000162661" "02591" "ABCA4_001123" "g.94548975C>T" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs567985213" "0" "" "" "g.94083419C>T" "" "VUS" ""
"0000475773" "0" "50" "1" "94548976" "94548976" "subst" "8.13292E-6" "02591" "ABCA4_001124" "g.94548976G>A" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs767947718" "0" "" "" "g.94083420G>A" "" "VUS" ""
"0000475774" "0" "50" "1" "94564354" "94564354" "subst" "4.06171E-5" "02591" "ABCA4_001125" "g.94564354C>T" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs148387660" "0" "" "" "g.94098798C>T" "" "VUS" ""
"0000475775" "0" "90" "1" "94564355" "94564355" "subst" "0.000105612" "02591" "ABCA4_000365" "g.94564355G>A" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs62645952" "0" "" "" "g.94098799G>A" "" "pathogenic" ""
"0000475776" "0" "50" "1" "94564442" "94564442" "subst" "4.06408E-5" "02591" "ABCA4_001126" "g.94564442G>A" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs149780335" "0" "" "" "g.94098886G>A" "" "VUS" ""
"0000475777" "0" "50" "1" "94564445" "94564445" "subst" "0.000203219" "02591" "ABCA4_001127" "g.94564445C>T" "3/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs540124349" "0" "" "" "g.94098889C>T" "" "VUS" ""
"0000475778" "0" "10" "1" "94564483" "94564483" "subst" "0.0409724" "02591" "ABCA4_000009" "g.94564483C>T" "136/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs6657239" "0" "" "" "g.94098927C>T" "" "benign" ""
"0000475779" "0" "50" "1" "94564543" "94564543" "subst" "0.000211952" "02591" "ABCA4_000945" "g.94564543G>A" "3/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs185729337" "0" "" "" "g.94098987G>A" "" "VUS" ""
"0000475780" "0" "50" "1" "94564552" "94564552" "subst" "9.10873E-5" "02591" "ABCA4_001128" "g.94564552A>C" "4/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs200013776" "0" "" "" "g.94098996A>C" "" "VUS" ""
"0000475781" "0" "90" "1" "94568569" "94568569" "subst" "0" "02591" "ABCA4_001129" "g.94568569A>C" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.94103013A>C" "" "pathogenic" ""
"0000475782" "0" "90" "1" "94568699" "94568702" "del" "0" "02591" "ABCA4_001130" "g.94568699_94568702del" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.94103143_94103146del" "" "pathogenic" ""
"0000475783" "0" "50" "1" "94574234" "94574234" "subst" "2.03031E-5" "02591" "ABCA4_001131" "g.94574234A>G" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs768544956" "0" "" "" "g.94108678A>G" "" "VUS" ""
"0000475784" "0" "50" "1" "94574258" "94574258" "subst" "0.00115728" "02591" "ABCA4_001132" "g.94574258T>A" "5/1203 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs201150919" "0" "" "" "g.94108702T>A" "" "VUS" ""
"0000477401" "3" "50" "1" "94461717" "94461717" "subst" "0.0703199" "02591" "ABCA4_000003" "g.94461717C>A" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs6666652" "0" "" "" "g.93996161C>A" "" "VUS" ""
"0000477402" "3" "10" "1" "94461754" "94461754" "subst" "0.0642229" "02591" "ABCA4_000951" "g.94461754A>G" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs1800717" "0" "" "" "g.93996198A>G" "" "benign" ""
"0000477403" "3" "50" "1" "94466639" "94466639" "subst" "0" "02591" "ABCA4_001096" "g.94466639T>G" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.94001083T>G" "" "VUS" ""
"0000477404" "3" "50" "1" "94496053" "94496053" "subst" "0.00437371" "02591" "ABCA4_000556" "g.94496053G>A" "1/1203 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs1800549" "0" "" "" "g.94030497G>A" "" "VUS" ""
"0000477405" "3" "50" "1" "94544208" "94544208" "subst" "0.000158364" "02591" "ABCA4_000320" "g.94544208C>T" "1/1187 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs201117452" "0" "" "" "g.94078652C>T" "" "VUS" ""
"0000477406" "3" "10" "1" "94544234" "94544234" "subst" "0.255245" "02591" "ABCA4_000322" "g.94544234T>C" "80/1203 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs3112831" "0" "" "" "g.94078678T>C" "" "benign" ""
"0000477407" "3" "10" "1" "94564483" "94564483" "subst" "0.0409724" "02591" "ABCA4_000009" "g.94564483C>T" "3/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs6657239" "0" "" "" "g.94098927C>T" "" "benign" ""
"0000477408" "3" "50" "1" "94574258" "94574258" "subst" "0.00115728" "02591" "ABCA4_001132" "g.94574258T>A" "1/1203 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs201150919" "0" "" "" "g.94108702T>A" "" "VUS" ""
"0000477618" "3" "90" "1" "94476351" "94476351" "subst" "0.000296608" "00020" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Green 2020:32467599}, {DOI:Green 2020:10.1038/s41431-020-0581-4}" "" "" "" "Germline" "" "" "0" "" "" "g.94010795C>T" "" "pathogenic (recessive)" ""
"0000477619" "3" "90" "1" "94476351" "94476351" "subst" "0.000296608" "00020" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Green 2020:32467599}, {DOI:Green 2020:10.1038/s41431-020-0581-4}" "" "" "" "Germline" "" "" "0" "" "" "g.94010795C>T" "" "pathogenic (recessive)" ""
"0000477620" "3" "30" "1" "94568686" "94568686" "subst" "0.00258122" "00020" "ABCA4_000212" "g.94568686C>T" "" "{PMID:Green 2020:32467599}, {DOI:Green 2020:10.1038/s41431-020-0581-4}" "" "" "" "Germline" "" "" "0" "" "" "g.94103130C>T" "" "likely benign" ""
"0000477621" "3" "30" "1" "94568686" "94568686" "subst" "0.00258122" "00020" "ABCA4_000212" "g.94568686C>T" "" "{PMID:Green 2020:32467599}, {DOI:Green 2020:10.1038/s41431-020-0581-4}" "" "" "" "Germline" "" "" "0" "" "" "g.94103130C>T" "" "likely benign" ""
"0000477622" "3" "90" "1" "94476351" "94476351" "subst" "0.000296608" "00020" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Green 2020:32467599}, {DOI:Green 2020:10.1038/s41431-020-0581-4}" "" "" "" "Germline" "" "" "0" "" "" "g.94010795C>T" "" "pathogenic (recessive)" ""
"0000477623" "3" "90" "1" "94476351" "94476351" "subst" "0.000296608" "00020" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Green 2020:32467599}, {DOI:Green 2020:10.1038/s41431-020-0581-4}" "" "" "" "Germline" "" "" "0" "" "" "g.94010795C>T" "" "pathogenic (recessive)" ""
"0000477624" "3" "90" "1" "94476951" "94476951" "subst" "0.000236097" "00020" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Green 2020:32467599}, {DOI:Green 2020:10.1038/s41431-020-0581-4}" "" "" "" "Germline" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000477625" "3" "90" "1" "94476951" "94476951" "subst" "0.000236097" "00020" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Green 2020:32467599}, {DOI:Green 2020:10.1038/s41431-020-0581-4}" "" "" "" "Germline" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000477626" "3" "90" "1" "94476951" "94476951" "subst" "0.000236097" "00020" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Green 2020:32467599}, {DOI:Green 2020:10.1038/s41431-020-0581-4}" "" "" "" "Germline" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000477627" "3" "90" "1" "94476351" "94476351" "subst" "0.000296608" "00020" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Green 2020:32467599}, {DOI:Green 2020:10.1038/s41431-020-0581-4}" "" "" "" "Germline" "" "" "0" "" "" "g.94010795C>T" "" "pathogenic (recessive)" ""
"0000477628" "3" "90" "1" "94476351" "94476351" "subst" "0.000296608" "00020" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Green 2020:32467599}, {DOI:Green 2020:10.1038/s41431-020-0581-4}" "" "" "" "Germline" "" "" "0" "" "" "g.94010795C>T" "" "pathogenic (recessive)" ""
"0000477629" "3" "90" "1" "94476351" "94476351" "subst" "0.000296608" "00020" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Green 2020:32467599}, {DOI:Green 2020:10.1038/s41431-020-0581-4}" "" "" "" "Germline" "" "" "0" "" "" "g.94010795C>T" "" "pathogenic (recessive)" ""
"0000477630" "3" "90" "1" "94496666" "94496666" "subst" "0.000219568" "00020" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Green 2020:32467599}, {DOI:Green 2020:10.1038/s41431-020-0581-4}" "" "" "" "Germline" "" "" "0" "" "" "g.94031110G>A" "" "pathogenic (recessive)" ""
"0000477631" "1" "90" "1" "94476951" "94476951" "subst" "0.000236097" "00020" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Green 2020:32467599}, {DOI:Green 2020:10.1038/s41431-020-0581-4}" "" "" "" "Germline" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000477632" "1" "90" "1" "94476351" "94476351" "subst" "0.000296608" "00020" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Green 2020:32467599}, {DOI:Green 2020:10.1038/s41431-020-0581-4}" "" "" "" "Germline" "" "" "0" "" "" "g.94010795C>T" "" "pathogenic (recessive)" ""
"0000477633" "1" "90" "1" "94543278" "94543278" "subst" "0.000178952" "00020" "ABCA4_000004" "g.94543278G>A" "" "{PMID:Green 2020:32467599}, {DOI:Green 2020:10.1038/s41431-020-0581-4}" "" "" "" "Germline" "" "" "0" "" "" "g.94077722G>A" "" "pathogenic (recessive)" ""
"0000477634" "1" "90" "1" "94543278" "94543278" "subst" "0.000178952" "00020" "ABCA4_000004" "g.94543278G>A" "" "{PMID:Green 2020:32467599}, {DOI:Green 2020:10.1038/s41431-020-0581-4}" "" "" "" "Germline" "" "" "0" "" "" "g.94077722G>A" "" "pathogenic (recessive)" ""
"0000477635" "1" "90" "1" "94476351" "94476351" "subst" "0.000296608" "00020" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Green 2020:32467599}, {DOI:Green 2020:10.1038/s41431-020-0581-4}" "" "" "" "Germline" "" "" "0" "" "" "g.94010795C>T" "" "pathogenic (recessive)" ""
"0000477636" "1" "90" "1" "94476351" "94476351" "subst" "0.000296608" "00020" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Green 2020:32467599}, {DOI:Green 2020:10.1038/s41431-020-0581-4}" "" "" "" "Germline" "" "" "0" "" "" "g.94010795C>T" "" "pathogenic (recessive)" ""
"0000477637" "1" "90" "1" "94508323" "94508323" "subst" "0.000125953" "00020" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Green 2020:32467599}, {DOI:Green 2020:10.1038/s41431-020-0581-4}" "" "" "" "Germline" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000477638" "1" "90" "1" "94520690" "94520690" "subst" "2.03102E-5" "00020" "ABCA4_000149" "g.94520690C>T" "" "{PMID:Green 2020:32467599}, {DOI:Green 2020:10.1038/s41431-020-0581-4}" "" "" "" "Germline" "" "" "0" "" "" "g.94055134C>T" "" "pathogenic (recessive)" ""
"0000477639" "1" "90" "1" "94476351" "94476351" "subst" "0.000296608" "00020" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Green 2020:32467599}, {DOI:Green 2020:10.1038/s41431-020-0581-4}" "" "" "" "Germline" "" "" "0" "" "" "g.94010795C>T" "" "pathogenic (recessive)" ""
"0000477640" "1" "30" "1" "94568686" "94568686" "subst" "0.00258122" "00020" "ABCA4_000212" "g.94568686C>T" "" "{PMID:Green 2020:32467599}, {DOI:Green 2020:10.1038/s41431-020-0581-4}" "" "" "" "Germline" "" "" "0" "" "" "g.94103130C>T" "" "likely benign" ""
"0000477641" "1" "90" "1" "94517254" "94517254" "subst" "0.00442654" "00020" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Green 2020:32467599}, {DOI:Green 2020:10.1038/s41431-020-0581-4}" "" "" "" "Germline" "" "rs76157638" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000477642" "1" "90" "1" "94476951" "94476951" "subst" "0.000236097" "00020" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Green 2020:32467599}, {DOI:Green 2020:10.1038/s41431-020-0581-4}" "" "" "" "Germline" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000477643" "1" "90" "1" "94476951" "94476951" "subst" "0.000236097" "00020" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Green 2020:32467599}, {DOI:Green 2020:10.1038/s41431-020-0581-4}" "" "" "" "Germline" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000477644" "1" "90" "1" "94476351" "94476351" "subst" "0.000296608" "00020" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Green 2020:32467599}, {DOI:Green 2020:10.1038/s41431-020-0581-4}" "" "" "" "Germline" "" "" "0" "" "" "g.94010795C>T" "" "pathogenic (recessive)" ""
"0000477645" "1" "90" "1" "94476351" "94476351" "subst" "0.000296608" "00020" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Green 2020:32467599}, {DOI:Green 2020:10.1038/s41431-020-0581-4}" "" "" "" "Germline" "" "" "0" "" "" "g.94010795C>T" "" "pathogenic (recessive)" ""
"0000477646" "1" "90" "1" "94476351" "94476351" "subst" "0.000296608" "00020" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Green 2020:32467599}, {DOI:Green 2020:10.1038/s41431-020-0581-4}" "" "" "" "Germline" "" "" "0" "" "" "g.94010795C>T" "" "pathogenic (recessive)" ""
"0000477647" "1" "90" "1" "94490567" "94490567" "subst" "5.68528E-5" "00020" "ABCA4_000026" "g.94490567G>A" "" "{PMID:Green 2020:32467599}, {DOI:Green 2020:10.1038/s41431-020-0581-4}" "" "" "" "Germline" "" "" "0" "" "" "g.94025011G>A" "" "pathogenic (recessive)" ""
"0000477648" "1" "90" "1" "94476351" "94476351" "subst" "0.000296608" "00020" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Green 2020:32467599}, {DOI:Green 2020:10.1038/s41431-020-0581-4}" "" "" "" "Germline" "" "" "0" "" "" "g.94010795C>T" "" "pathogenic (recessive)" ""
"0000477649" "1" "90" "1" "94476351" "94476351" "subst" "0.000296608" "00020" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Green 2020:32467599}, {DOI:Green 2020:10.1038/s41431-020-0581-4}" "" "" "" "Germline" "" "" "0" "" "" "g.94010795C>T" "" "pathogenic (recessive)" ""
"0000477650" "1" "90" "1" "94476351" "94476351" "subst" "0.000296608" "00020" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Green 2020:32467599}, {DOI:Green 2020:10.1038/s41431-020-0581-4}" "" "" "" "Germline" "" "" "0" "" "" "g.94010795C>T" "" "pathogenic (recessive)" ""
"0000477651" "1" "90" "1" "94476351" "94476351" "subst" "0.000296608" "00020" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Green 2020:32467599}, {DOI:Green 2020:10.1038/s41431-020-0581-4}" "" "" "" "Germline" "" "" "0" "" "" "g.94010795C>T" "" "pathogenic (recessive)" ""
"0000477652" "1" "90" "1" "94495071" "94495071" "subst" "6.39479E-5" "00020" "ABCA4_000997" "g.94495071C>T" "" "{PMID:Green 2020:32467599}, {DOI:Green 2020:10.1038/s41431-020-0581-4}" "" "" "" "Germline" "" "" "0" "" "" "g.94029515C>T" "" "pathogenic (recessive)" ""
"0000477653" "1" "90" "1" "94476351" "94476351" "subst" "0.000296608" "00020" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Green 2020:32467599}, {DOI:Green 2020:10.1038/s41431-020-0581-4}" "" "" "" "Germline" "" "" "0" "" "" "g.94010795C>T" "" "pathogenic (recessive)" ""
"0000477654" "1" "90" "1" "94517254" "94517254" "subst" "0.00442654" "00020" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Green 2020:32467599}, {DOI:Green 2020:10.1038/s41431-020-0581-4}" "" "" "" "Germline" "" "rs76157638" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000477655" "1" "90" "1" "94476351" "94476351" "subst" "0.000296608" "00020" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Green 2020:32467599}, {DOI:Green 2020:10.1038/s41431-020-0581-4}" "" "" "" "Germline" "" "" "0" "" "" "g.94010795C>T" "" "pathogenic (recessive)" ""
"0000477656" "1" "90" "1" "94476351" "94476351" "subst" "0.000296608" "00020" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Green 2020:32467599}, {DOI:Green 2020:10.1038/s41431-020-0581-4}" "" "" "" "Germline" "" "" "0" "" "" "g.94010795C>T" "" "pathogenic (recessive)" ""
"0000477657" "1" "90" "1" "94476351" "94476351" "subst" "0.000296608" "00020" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Green 2020:32467599}, {DOI:Green 2020:10.1038/s41431-020-0581-4}" "" "" "" "Germline" "" "" "0" "" "" "g.94010795C>T" "" "pathogenic (recessive)" ""
"0000477658" "1" "90" "1" "94490567" "94490567" "subst" "5.68528E-5" "00020" "ABCA4_000026" "g.94490567G>A" "" "{PMID:Green 2020:32467599}, {DOI:Green 2020:10.1038/s41431-020-0581-4}" "" "" "unknown variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.94025011G>A" "" "pathogenic (recessive)" ""
"0000477659" "2" "90" "1" "94520690" "94520690" "subst" "2.03102E-5" "00020" "ABCA4_000149" "g.94520690C>T" "" "{PMID:Green 2020:32467599}, {DOI:Green 2020:10.1038/s41431-020-0581-4}" "" "" "" "Germline" "" "" "0" "" "" "g.94055134C>T" "" "pathogenic (recessive)" ""
"0000477660" "2" "90" "1" "94520690" "94520690" "subst" "2.03102E-5" "00020" "ABCA4_000149" "g.94520690C>T" "" "{PMID:Green 2020:32467599}, {DOI:Green 2020:10.1038/s41431-020-0581-4}" "" "" "" "Germline" "" "" "0" "" "" "g.94055134C>T" "" "pathogenic (recessive)" ""
"0000477661" "2" "90" "1" "94520690" "94520690" "subst" "2.03102E-5" "00020" "ABCA4_000149" "g.94520690C>T" "" "{PMID:Green 2020:32467599}, {DOI:Green 2020:10.1038/s41431-020-0581-4}" "" "" "" "Germline" "" "" "0" "" "" "g.94055134C>T" "" "pathogenic (recessive)" ""
"0000477662" "2" "90" "1" "94520690" "94520690" "subst" "2.03102E-5" "00020" "ABCA4_000149" "g.94520690C>T" "" "{PMID:Green 2020:32467599}, {DOI:Green 2020:10.1038/s41431-020-0581-4}" "" "" "" "Germline" "" "" "0" "" "" "g.94055134C>T" "" "pathogenic (recessive)" ""
"0000477663" "2" "90" "1" "94508323" "94508323" "subst" "0.000125953" "00020" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Green 2020:32467599}, {DOI:Green 2020:10.1038/s41431-020-0581-4}" "" "" "" "Germline" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000477664" "2" "90" "1" "94508323" "94508323" "subst" "0.000125953" "00020" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Green 2020:32467599}, {DOI:Green 2020:10.1038/s41431-020-0581-4}" "" "" "" "Germline" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000477665" "2" "90" "1" "94508322" "94508322" "subst" "1.62513E-5" "00020" "ABCA4_000128" "g.94508322C>T" "" "{PMID:Green 2020:32467599}, {DOI:Green 2020:10.1038/s41431-020-0581-4}" "" "" "" "Germline" "" "" "0" "" "" "g.94042766C>T" "" "pathogenic (recessive)" ""
"0000477666" "2" "90" "1" "94496666" "94496666" "subst" "0.000219568" "00020" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Green 2020:32467599}, {DOI:Green 2020:10.1038/s41431-020-0581-4}" "" "" "" "Germline" "" "" "0" "" "" "g.94031110G>A" "" "pathogenic (recessive)" ""
"0000477667" "2" "90" "1" "94496666" "94496666" "subst" "0.000219568" "00020" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Green 2020:32467599}, {DOI:Green 2020:10.1038/s41431-020-0581-4}" "" "" "" "Germline" "" "" "0" "" "" "g.94031110G>A" "" "pathogenic (recessive)" ""
"0000477668" "2" "90" "1" "94495071" "94495071" "subst" "6.39479E-5" "00020" "ABCA4_000997" "g.94495071C>T" "" "{PMID:Green 2020:32467599}, {DOI:Green 2020:10.1038/s41431-020-0581-4}" "" "" "" "Germline" "" "" "0" "" "" "g.94029515C>T" "" "pathogenic (recessive)" ""
"0000477669" "2" "90" "1" "94495009" "94495009" "del" "0" "00020" "ABCA4_001104" "g.94495009del" "" "{PMID:Green 2020:32467599}, {DOI:Green 2020:10.1038/s41431-020-0581-4}" "" "" "" "Germline" "" "" "0" "" "" "g.94029453del" "" "pathogenic (recessive)" ""
"0000477670" "2" "30" "1" "94568686" "94568686" "subst" "0.00258122" "00020" "ABCA4_000212" "g.94568686C>T" "" "{PMID:Green 2020:32467599}, {DOI:Green 2020:10.1038/s41431-020-0581-4}" "" "" "" "Germline" "" "" "0" "" "" "g.94103130C>T" "" "likely benign" ""
"0000477671" "2" "30" "1" "94568686" "94568686" "subst" "0.00258122" "00020" "ABCA4_000212" "g.94568686C>T" "" "{PMID:Green 2020:32467599}, {DOI:Green 2020:10.1038/s41431-020-0581-4}" "" "" "" "Germline" "" "" "0" "" "" "g.94103130C>T" "" "likely benign" ""
"0000477672" "2" "30" "1" "94568686" "94568686" "subst" "0.00258122" "00020" "ABCA4_000212" "g.94568686C>T" "" "{PMID:Green 2020:32467599}, {DOI:Green 2020:10.1038/s41431-020-0581-4}" "" "" "" "Germline" "" "" "0" "" "" "g.94103130C>T" "" "likely benign" ""
"0000477673" "2" "30" "1" "94568686" "94568686" "subst" "0.00258122" "00020" "ABCA4_000212" "g.94568686C>T" "" "{PMID:Green 2020:32467599}, {DOI:Green 2020:10.1038/s41431-020-0581-4}" "" "" "" "Germline" "" "" "0" "" "" "g.94103130C>T" "" "likely benign" ""
"0000477674" "2" "30" "1" "94568686" "94568686" "subst" "0.00258122" "00020" "ABCA4_000212" "g.94568686C>T" "" "{PMID:Green 2020:32467599}, {DOI:Green 2020:10.1038/s41431-020-0581-4}" "" "" "" "Germline" "" "" "0" "" "" "g.94103130C>T" "" "likely benign" ""
"0000477675" "2" "30" "1" "94568686" "94568686" "subst" "0.00258122" "00020" "ABCA4_000212" "g.94568686C>T" "" "{PMID:Green 2020:32467599}, {DOI:Green 2020:10.1038/s41431-020-0581-4}" "" "" "" "Germline" "" "" "0" "" "" "g.94103130C>T" "" "likely benign" ""
"0000477676" "2" "90" "1" "94496642" "94496642" "subst" "4.06398E-6" "00020" "ABCA4_000168" "g.94496642A>G" "" "{PMID:Green 2020:32467599}, {DOI:Green 2020:10.1038/s41431-020-0581-4}" "" "" "" "Germline" "" "" "0" "" "" "g.94031086A>G" "" "pathogenic (recessive)" ""
"0000477677" "2" "90" "1" "94496642" "94496642" "subst" "4.06398E-6" "00020" "ABCA4_000168" "g.94496642A>G" "" "{PMID:Green 2020:32467599}, {DOI:Green 2020:10.1038/s41431-020-0581-4}" "" "" "" "Germline" "" "" "0" "" "" "g.94031086A>G" "" "pathogenic (recessive)" ""
"0000477678" "2" "90" "1" "94496642" "94496642" "subst" "4.06398E-6" "00020" "ABCA4_000168" "g.94496642A>G" "" "{PMID:Green 2020:32467599}, {DOI:Green 2020:10.1038/s41431-020-0581-4}" "" "" "" "Germline" "" "" "0" "" "" "g.94031086A>G" "" "pathogenic (recessive)" ""
"0000477679" "2" "90" "1" "94496642" "94496642" "subst" "4.06398E-6" "00020" "ABCA4_000168" "g.94496642A>G" "" "{PMID:Green 2020:32467599}, {DOI:Green 2020:10.1038/s41431-020-0581-4}" "" "" "" "Germline" "" "" "0" "" "" "g.94031086A>G" "" "pathogenic (recessive)" ""
"0000477680" "2" "90" "1" "94490567" "94490567" "subst" "5.68528E-5" "00020" "ABCA4_000026" "g.94490567G>A" "" "{PMID:Green 2020:32467599}, {DOI:Green 2020:10.1038/s41431-020-0581-4}" "" "" "" "Germline" "" "" "0" "" "" "g.94025011G>A" "" "pathogenic (recessive)" ""
"0000477681" "2" "90" "1" "94476951" "94476951" "subst" "0.000236097" "00020" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Green 2020:32467599}, {DOI:Green 2020:10.1038/s41431-020-0581-4}" "" "" "" "Germline" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000477682" "2" "90" "1" "94476951" "94476951" "subst" "0.000236097" "00020" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Green 2020:32467599}, {DOI:Green 2020:10.1038/s41431-020-0581-4}" "" "" "" "Germline" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000477683" "2" "90" "1" "94476951" "94476951" "subst" "0.000236097" "00020" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Green 2020:32467599}, {DOI:Green 2020:10.1038/s41431-020-0581-4}" "" "" "" "Germline" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000477684" "2" "90" "1" "94471055" "94471055" "subst" "0.00035346" "00020" "ABCA4_000029" "g.94471055C>T" "" "{PMID:Green 2020:32467599}, {DOI:Green 2020:10.1038/s41431-020-0581-4}" "" "" "" "Germline" "" "" "0" "" "" "g.94005499C>T" "" "pathogenic (recessive)" ""
"0000477685" "2" "90" "1" "94564484" "94564484" "subst" "0.000110199" "00020" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Green 2020:32467599}, {DOI:Green 2020:10.1038/s41431-020-0581-4}" "" "" "" "Germline" "" "" "0" "" "" "g.94098928G>A" "" "pathogenic (recessive)" ""
"0000477686" "2" "90" "1" "94466422" "94466422" "subst" "2.43651E-5" "00020" "ABCA4_000817" "g.94466422C>T" "" "{PMID:Green 2020:32467599}, {DOI:Green 2020:10.1038/s41431-020-0581-4}" "" "" "" "Germline" "" "" "0" "" "" "g.94000866C>T" "" "pathogenic (recessive)" ""
"0000477687" "2" "90" "1" "94578623" "94578623" "del" "0" "00020" "ABCA4_001093" "g.94578623del" "" "{PMID:Green 2020:32467599}, {DOI:Green 2020:10.1038/s41431-020-0581-4}" "" "" "67-1delG" "Germline" "" "" "0" "" "" "g.94113067del" "" "pathogenic (recessive)" ""
"0000477688" "2" "90" "1" "94578623" "94578623" "del" "0" "00020" "ABCA4_001093" "g.94578623del" "" "{PMID:Green 2020:32467599}, {DOI:Green 2020:10.1038/s41431-020-0581-4}" "" "" "67-1delG" "Germline" "" "" "0" "" "" "g.94113067del" "" "pathogenic (recessive)" ""
"0000477689" "2" "90" "1" "94578623" "94578623" "del" "0" "00020" "ABCA4_001093" "g.94578623del" "" "{PMID:Green 2020:32467599}, {DOI:Green 2020:10.1038/s41431-020-0581-4}" "" "" "67-1delG" "Germline" "" "" "0" "" "" "g.94113067del" "" "pathogenic (recessive)" ""
"0000477690" "1" "90" "1" "94496642" "94496642" "subst" "4.06398E-6" "00020" "ABCA4_000168" "g.94496642A>G" "" "{PMID:Green 2020:32467599}, {DOI:Green 2020:10.1038/s41431-020-0581-4}" "" "" "" "Germline" "" "" "0" "" "" "g.94031086A>G" "" "pathogenic (recessive)" ""
"0000477691" "3" "90" "1" "94496642" "94496642" "subst" "4.06398E-6" "00020" "ABCA4_000168" "g.94496642A>G" "" "{PMID:Green 2020:32467599}, {DOI:Green 2020:10.1038/s41431-020-0581-4}" "" "" "" "Germline" "" "" "0" "" "" "g.94031086A>G" "" "pathogenic (recessive)" ""
"0000477692" "3" "90" "1" "94496642" "94496642" "subst" "4.06398E-6" "00020" "ABCA4_000168" "g.94496642A>G" "" "{PMID:Green 2020:32467599}, {DOI:Green 2020:10.1038/s41431-020-0581-4}" "" "" "" "Germline" "" "" "0" "" "" "g.94031086A>G" "" "pathogenic (recessive)" ""
"0000487537" "21" "90" "1" "94543380" "94543383" "dup" "0" "03335" "ABCA4_001187" "g.94543380_94543383dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.94077824_94077827dup" "" "pathogenic (recessive)" ""
"0000487538" "0" "70" "1" "94486960" "94486960" "subst" "1.62641E-5" "03335" "ABCA4_001169" "g.94486960C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.94021404C>G" "" "pathogenic (recessive)" ""
"0000487539" "0" "70" "1" "94467411" "94467411" "subst" "0" "03335" "ABCA4_001162" "g.94467411T>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.94001855T>A" "" "likely pathogenic (recessive)" ""
"0000487540" "0" "70" "1" "94506904" "94506904" "subst" "0" "03335" "ABCA4_001176" "g.94506904T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.94041348T>C" "" "likely pathogenic (recessive)" ""
"0000487541" "0" "90" "1" "94487242" "94487242" "del" "0" "03335" "ABCA4_001170" "g.94487242del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.94021686del" "" "pathogenic (recessive)" ""
"0000487594" "0" "50" "1" "94578589" "94578594" "del" "0" "03336" "ABCA4_000249" "g.94578589_94578594del" "" "{PMID:Hu 2019:31543898}" "" "101_106delCTTTAT" "" "Germline" "" "" "0" "" "" "g.94113033_94113038del" "" "VUS" ""
"0000487595" "1" "50" "1" "94490534" "94490534" "subst" "0.000125895" "03336" "ABCA4_000520" "g.94490534G>A" "" "{PMID:Hu 2019:31543898}" "" "" "no variant found 2nd allele" "Germline" "" "" "0" "" "" "g.94024978G>A" "" "VUS" ""
"0000487615" "1" "90" "1" "94506764" "94506764" "subst" "0" "03336" "ABCA4_001173" "g.94506764C>T" "" "{PMID:Hu 2019:31543898}" "" "" "" "Germline" "" "" "0" "" "" "g.94041208C>T" "" "pathogenic (recessive)" ""
"0000487616" "2" "90" "1" "94508433" "94508433" "subst" "0" "03336" "ABCA4_001300" "g.94508433G>T" "" "{PMID:Hu 2019:31543898}" "" "" "" "Germline" "" "" "0" "" "" "g.94042877G>T" "" "pathogenic (recessive)" ""
"0000487620" "1" "90" "1" "94474381" "94474381" "subst" "1.21849E-5" "03336" "ABCA4_000410" "g.94474381C>T" "" "{PMID:Hu 2019:31543898}" "" "" "" "Germline" "" "" "0" "" "" "g.94008825C>T" "" "pathogenic (recessive)" ""
"0000487621" "2" "90" "1" "94512619" "94512619" "subst" "0" "03336" "ABCA4_001305" "g.94512619C>T" "" "{PMID:Hu 2019:31543898}" "" "" "" "Germline" "" "" "0" "" "" "g.94047063C>T" "" "pathogenic (recessive)" ""
"0000487623" "1" "90" "1" "94467413" "94467413" "subst" "0" "03336" "ABCA4_001276" "g.94467413C>T" "" "{PMID:Hu 2019:31543898}" "" "" "" "Germline" "" "" "0" "" "" "g.94001857C>T" "" "pathogenic (recessive)" ""
"0000487626" "2" "90" "1" "94578595" "94578595" "subst" "4.06471E-6" "03336" "ABCA4_001328" "g.94578595G>T" "" "{PMID:Hu 2019:31543898}" "" "" "" "Germline" "" "" "0" "" "" "g.94113039G>T" "" "pathogenic (recessive)" ""
"0000487627" "1" "90" "1" "94490583" "94490583" "" "0" "03336" "ABCA4_001287" "g.94490583del" "" "{PMID:Hu 2019:31543898}" "" "4561delA" "" "De novo" "" "" "0" "" "" "g.94025027del" "" "pathogenic (recessive)" ""
"0000487628" "2" "90" "1" "94578594" "94578594" "subst" "0" "03336" "ABCA4_001327" "g.94578594G>A" "" "{PMID:Hu 2019:31543898}" "" "" "" "Germline" "" "" "0" "" "" "g.94113038G>A" "" "pathogenic (recessive)" ""
"0000487630" "1" "90" "1" "94512499" "94512499" "subst" "0.000130029" "03336" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Hu 2019:31543898}" "" "" "" "Germline" "" "" "0" "" "" "g.94046943T>C" "" "pathogenic (recessive)" ""
"0000487632" "2" "90" "1" "94546127" "94546127" "" "0" "03336" "ABCA4_001320" "g.94546127del" "" "{PMID:Hu 2019:31543898}" "" "1006delT" "" "Germline" "" "" "0" "" "" "g.94080571del" "" "pathogenic (recessive)" ""
"0000487636" "1" "90" "1" "94496547" "94496547" "subst" "1.21904E-5" "03336" "ABCA4_000560" "g.94496547C>T" "" "{PMID:Hu 2019:31543898}" "" "" "" "Germline" "" "" "0" "" "" "g.94030991C>T" "" "pathogenic (recessive)" ""
"0000487637" "2" "90" "1" "94528251" "94528251" "subst" "2.84824E-5" "03336" "ABCA4_000281" "g.94528251C>T" "" "{PMID:Hu 2019:31543898}" "" "" "" "Germline" "" "" "0" "" "" "g.94062695C>T" "" "pathogenic (recessive)" ""
"0000487643" "3" "90" "1" "94502880" "94502880" "subst" "0" "03336" "ABCA4_001293" "g.94502880C>A" "" "{PMID:Hu 2019:31543898}" "" "" "" "Germline" "" "" "0" "" "" "g.94037324C>A" "" "pathogenic (recessive)" ""
"0000487645" "1" "90" "1" "94466658" "94466658" "subst" "8.14817E-6" "03336" "ABCA4_000132" "g.94466658C>T" "" "{PMID:Hu 2019:31543898}" "" "" "" "Germline" "" "" "0" "" "" "g.94001102C>T" "" "pathogenic (recessive)" ""
"0000487647" "2" "50" "1" "94506805" "94506805" "subst" "2.03051E-5" "03336" "ABCA4_001294" "g.94506805C>T" "" "{PMID:Hu 2019:31543898}" "" "" "" "Germline" "" "" "0" "" "" "g.94041249C>T" "" "VUS" ""
"0000487648" "1" "50" "1" "94473280" "94473280" "subst" "0" "03336" "ABCA4_001278" "g.94473280C>T" "" "{PMID:Hu 2019:31543898}" "" "" "" "Germline" "" "" "0" "" "" "g.94007724C>T" "" "VUS" ""
"0000487650" "2" "50" "1" "94512499" "94512499" "subst" "0.000130029" "03336" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Hu 2019:31543898}" "" "" "" "Germline" "" "" "0" "" "" "g.94046943T>C" "" "VUS" ""
"0000487653" "1" "50" "1" "94463583" "94463583" "subst" "8.12183E-6" "03336" "ABCA4_000806" "g.94463583A>G" "" "{PMID:Hu 2019:31543898}" "" "" "" "Germline" "" "" "0" "" "" "g.93998027A>G" "" "VUS" ""
"0000487655" "2" "50" "1" "94466426" "94466426" "subst" "1.62433E-5" "03336" "ABCA4_000124" "g.94466426G>A" "" "{PMID:Hu 2019:31543898}" "" "" "" "Germline" "" "" "0" "" "" "g.94000870G>A" "" "VUS" ""
"0000487656" "1" "50" "1" "94466482" "94466482" "subst" "0" "03336" "ABCA4_000829" "g.94466482A>T" "" "{PMID:Hu 2019:31543898}" "" "" "" "Germline" "" "" "0" "" "" "g.94000926A>T" "" "VUS" ""
"0000487657" "2" "50" "1" "94467413" "94467413" "subst" "0" "03336" "ABCA4_001276" "g.94467413C>T" "" "{PMID:Hu 2019:31543898}" "" "" "" "Germline" "" "" "0" "" "" "g.94001857C>T" "" "VUS" ""
"0000487658" "1" "50" "1" "94546029" "94546029" "subst" "0" "03336" "ABCA4_001318" "g.94546029C>T" "" "{PMID:Hu 2019:31543898}" "" "" "" "Germline" "" "" "0" "" "" "g.94080473C>T" "" "VUS" ""
"0000487660" "2" "50" "1" "94578589" "94578594" "" "0" "03336" "ABCA4_000249" "g.94578589_94578594del" "" "{PMID:Hu 2019:31543898}" "" "101_106delCTTTAT" "" "Germline" "" "" "0" "" "" "g.94113033_94113038del" "" "VUS" ""
"0000487663" "1" "50" "1" "94522278" "94522278" "subst" "0" "03336" "ABCA4_001306" "g.94522278A>G" "" "{PMID:Hu 2019:31543898}" "" "" "" "Germline" "" "" "0" "" "" "g.94056722A>G" "" "VUS" ""
"0000487664" "2" "50" "1" "94528251" "94528251" "subst" "2.84824E-5" "03336" "ABCA4_000281" "g.94528251C>T" "" "{PMID:Hu 2019:31543898}" "" "" "" "Germline" "" "" "0" "" "" "g.94062695C>T" "" "VUS" ""
"0000487666" "1" "50" "1" "94486961" "94486961" "subst" "0" "03336" "ABCA4_001286" "g.94486961C>T" "" "{PMID:Hu 2019:31543898}" "" "" "" "Germline" "" "" "0" "" "" "g.94021405C>T" "" "VUS" ""
"0000487667" "2" "50" "1" "94522362" "94522362" "" "0" "03336" "ABCA4_001307" "g.94522362del" "" "{PMID:Hu 2019:31543898}" "" "2177delA" "" "Germline" "" "" "0" "" "" "g.94056806del" "" "VUS" ""
"0000487669" "1" "50" "1" "94522362" "94522362" "" "0" "03336" "ABCA4_001307" "g.94522362del" "" "{PMID:Hu 2019:31543898}" "" "2177delA" "" "Germline" "" "" "0" "" "" "g.94056806del" "" "VUS" ""
"0000487670" "2" "50" "1" "94543428" "94543428" "subst" "0" "03336" "ABCA4_001315" "g.94543428G>A" "" "{PMID:Hu 2019:31543898}" "" "" "" "Germline" "" "" "0" "" "" "g.94077872G>A" "" "VUS" ""
"0000487671" "1" "50" "1" "94522278" "94522278" "subst" "0" "03336" "ABCA4_001306" "g.94522278A>G" "" "{PMID:Hu 2019:31543898}" "" "" "" "Germline" "" "" "0" "" "" "g.94056722A>G" "" "VUS" ""
"0000487673" "0" "50" "1" "94528164" "94528164" "subst" "0" "03336" "ABCA4_001311" "g.94528164G>T" "" "{PMID:Hu 2019:31543898}" "" "" "" "Germline" "" "" "0" "" "" "g.94062608G>T" "" "VUS" ""
"0000487674" "0" "50" "1" "94543278" "94543278" "subst" "0.000178952" "03336" "ABCA4_000004" "g.94543278G>A" "" "{PMID:Hu 2019:31543898}" "" "" "" "Germline" "" "" "0" "" "" "g.94077722G>A" "" "VUS" ""
"0000489015" "1" "50" "1" "94528164" "94528164" "subst" "0" "03336" "ABCA4_001311" "g.94528164G>T" "" "{PMID:Hu 2019:31543898}" "" "" "" "Germline" "" "" "0" "" "" "g.94062608G>T" "" "VUS" ""
"0000489016" "2" "50" "1" "94543278" "94543278" "subst" "0.000178952" "03336" "ABCA4_000004" "g.94543278G>A" "" "{PMID:Hu 2019:31543898}" "" "" "" "Germline" "" "" "0" "" "" "g.94077722G>A" "" "VUS" ""
"0000489017" "1" "50" "1" "94543428" "94543428" "subst" "0" "03336" "ABCA4_001315" "g.94543428G>A" "" "{PMID:Hu 2019:31543898}" "" "" "" "Germline" "" "" "0" "" "" "g.94077872G>A" "" "VUS" ""
"0000489018" "2" "90" "1" "94546127" "94546127" "" "0" "03336" "ABCA4_001320" "g.94546127del" "" "{PMID:Hu 2019:31543898}" "" "1006delT" "" "Germline" "" "" "0" "" "" "g.94080571del" "" "pathogenic (recessive)" ""
"0000489020" "1" "50" "1" "94508322" "94508322" "subst" "1.62513E-5" "03336" "ABCA4_000128" "g.94508322C>T" "" "{PMID:Hu 2019:31543898}" "" "" "" "Germline" "" "" "0" "" "" "g.94042766C>T" "" "VUS" ""
"0000489022" "2" "50" "1" "94496548" "94496548" "subst" "2.43787E-5" "03336" "ABCA4_000088" "g.94496548G>A" "" "{PMID:Hu 2019:31543898}" "" "" "" "Germline" "" "" "0" "" "" "g.94030992G>A" "" "VUS" ""
"0000489024" "1" "50" "1" "94480232" "94480232" "subst" "0" "03336" "ABCA4_000444" "g.94480232G>A" "" "{PMID:Hu 2019:31543898}" "" "" "" "Germline" "" "" "0" "" "" "g.94014676G>A" "" "VUS" ""
"0000489025" "2" "50" "1" "94578589" "94578594" "" "0" "03336" "ABCA4_000249" "g.94578589_94578594del" "" "{PMID:Hu 2019:31543898}" "" "101_106delCTTTAT" "" "Germline" "" "" "0" "" "" "g.94113033_94113038del" "" "VUS" ""
"0000489028" "1" "50" "1" "94467550" "94467550" "subst" "0" "03336" "ABCA4_001277" "g.94467550T>A" "" "{PMID:Hu 2019:31543898}" "" "" "" "Germline" "" "" "0" "" "" "g.94001994T>A" "" "VUS" ""
"0000489029" "2" "50" "1" "94528780" "94528780" "subst" "4.06171E-6" "03336" "ABCA4_000299" "g.94528780C>T" "" "{PMID:Hu 2019:31543898}" "" "" "" "Germline" "" "" "0" "" "" "g.94063224C>T" "" "VUS" ""
"0000489031" "1" "50" "1" "94476875" "94476875" "subst" "1.62489E-5" "03336" "ABCA4_001280" "g.94476875G>A" "" "{PMID:Hu 2019:31543898}" "" "" "" "Germline" "" "" "0" "" "" "g.94011319G>A" "" "VUS" ""
"0000489033" "2" "50" "1" "94548907" "94548907" "subst" "4.07126E-6" "03336" "ABCA4_001322" "g.94548907C>A" "" "{PMID:Hu 2019:31543898}" "" "" "" "Germline" "" "" "0" "" "" "g.94083351C>A" "" "VUS" ""
"0000489036" "1" "50" "1" "94485234" "94485234" "subst" "0" "03336" "ABCA4_001282" "g.94485234A>C" "" "{PMID:Hu 2019:31543898}" "" "" "" "Germline" "" "" "0" "" "" "g.94019678A>C" "" "VUS" ""
"0000489037" "2" "50" "1" "94578589" "94578594" "" "0" "03336" "ABCA4_000249" "g.94578589_94578594del" "" "{PMID:Hu 2019:31543898}" "" "101_106delCTTTAT" "" "Germline" "" "" "0" "" "" "g.94113033_94113038del" "" "VUS" ""
"0000489046" "1" "50" "1" "94463521" "94463521" "subst" "0" "03336" "ABCA4_001272" "g.94463521G>A" "" "{PMID:Hu 2019:31543898}" "" "" "" "Germline" "" "" "0" "" "" "g.93997965G>A" "" "VUS" ""
"0000489047" "2" "50" "1" "94578589" "94578594" "" "0" "03336" "ABCA4_000249" "g.94578589_94578594del" "" "{PMID:Hu 2019:31543898}" "" "101_106delCTTTAT" "" "Germline" "" "" "0" "" "" "g.94113033_94113038del" "" "VUS" ""
"0000489049" "1" "50" "1" "94463521" "94463521" "subst" "0" "03336" "ABCA4_001272" "g.94463521G>A" "" "{PMID:Hu 2019:31543898}" "" "" "" "Germline" "" "" "0" "" "" "g.93997965G>A" "" "VUS" ""
"0000489050" "2" "50" "1" "94578589" "94578594" "" "0" "03336" "ABCA4_000249" "g.94578589_94578594del" "" "{PMID:Hu 2019:31543898}" "" "101_106delCTTTAT" "" "Germline" "" "" "0" "" "" "g.94113033_94113038del" "" "VUS" ""
"0000489052" "1" "50" "1" "94495157" "94495157" "subst" "0" "03336" "ABCA4_000545" "g.94495157C>T" "" "{PMID:Hu 2019:31543898}" "" "" "" "Germline" "" "" "0" "" "" "g.94029601C>T" "" "VUS" ""
"0000489054" "2" "50" "1" "94528668" "94528668" "subst" "0" "03336" "ABCA4_001313" "g.94528668C>T" "" "{PMID:Hu 2019:31543898}" "" "" "" "Germline" "" "" "0" "" "" "g.94063112C>T" "" "VUS" ""
"0000489065" "1" "50" "1" "94577006" "94577006" "subst" "8.13511E-6" "03336" "ABCA4_001324" "g.94577006T>C" "" "{PMID:Hu 2019:31543898}" "" "" "" "Germline" "" "" "0" "" "" "g.94111450T>C" "" "VUS" ""
"0000489066" "2" "50" "1" "94578589" "94578594" "" "0" "03336" "ABCA4_000249" "g.94578589_94578594del" "" "{PMID:Hu 2019:31543898}" "" "101_106delCTTTAT" "" "Germline" "" "" "0" "" "" "g.94113033_94113038del" "" "VUS" ""
"0000495285" "1" "50" "1" "94512499" "94512499" "subst" "0.000130029" "03336" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Hu 2019:31543898}" "" "" "" "Germline" "" "" "0" "" "" "g.94046943T>C" "" "VUS" ""
"0000495286" "2" "50" "1" "94486959" "94486959" "subst" "0" "03336" "ABCA4_001285" "g.94486959A>G" "" "{PMID:Hu 2019:31543898}" "" "" "" "Germline" "" "" "0" "" "" "g.94021403A>G" "" "VUS" ""
"0000495287" "1" "50" "1" "94506910" "94506910" "subst" "0" "03336" "ABCA4_001297" "g.94506910A>C" "" "{PMID:Hu 2019:31543898}" "" "" "" "Germline" "" "" "0" "" "" "g.94041354A>C" "" "VUS" ""
"0000495288" "2" "90" "1" "94528868" "94528868" "del" "0" "03336" "ABCA4_000304" "g.94528868del" "" "{PMID:Hu 2019:31543898}" "" "1561delG" "" "Germline" "" "" "0" "" "" "g.94063312del" "" "pathogenic (recessive)" ""
"0000495289" "1" "90" "1" "94528868" "94528868" "del" "0" "03336" "ABCA4_000304" "g.94528868del" "" "{PMID:Hu 2019:31543898}" "" "1561delG" "" "Germline" "" "" "0" "" "" "g.94063312del" "" "pathogenic (recessive)" ""
"0000495290" "2" "50" "1" "94471026" "94471026" "subst" "1.21925E-5" "03336" "ABCA4_000791" "g.94471026G>A" "" "{PMID:Hu 2019:31543898}" "" "" "" "Germline" "" "" "0" "" "" "g.94005470G>A" "" "VUS" ""
"0000495291" "1" "50" "1" "94528311" "94528311" "subst" "0" "03336" "ABCA4_001138" "g.94528311T>C" "" "{PMID:Hu 2019:31543898}" "" "" "" "Germline" "" "" "0" "" "" "g.94062755T>C" "" "VUS" ""
"0000495292" "2" "50" "1" "94512499" "94512499" "subst" "0.000130029" "03336" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Hu 2019:31543898}" "" "" "" "Germline" "" "" "0" "" "" "g.94046943T>C" "" "VUS" ""
"0000497553" "1" "50" "1" "94526317" "94526317" "subst" "0" "03336" "ABCA4_000770" "g.94526317T>C" "" "{PMID:Hu 2019:31543898}" "" "" "" "Germline" "" "" "0" "" "" "g.94060761T>C" "" "VUS" ""
"0000497554" "2" "50" "1" "94520830" "94520830" "subst" "0" "03336" "ABCA4_000727" "g.94520830G>C" "" "{PMID:Hu 2019:31543898}" "" "" "" "Germline" "" "" "0" "" "" "g.94055274G>C" "" "VUS" ""
"0000497555" "1" "90" "1" "94528868" "94528868" "del" "0" "03336" "ABCA4_000304" "g.94528868del" "" "{PMID:Hu 2019:31543898}" "" "1561delG" "" "Germline" "" "" "0" "" "" "g.94063312del" "" "pathogenic (recessive)" ""
"0000497556" "2" "50" "1" "94463583" "94463583" "subst" "8.12183E-6" "03336" "ABCA4_000806" "g.94463583A>G" "" "{PMID:Hu 2019:31543898}" "" "" "" "Germline" "" "" "0" "" "" "g.93998027A>G" "" "VUS" ""
"0000497557" "3" "50" "1" "94496648" "94496648" "del" "0" "03336" "ABCA4_001290" "g.94496648del" "" "{PMID:Hu 2019:31543898}" "" "" "" "Germline" "" "" "0" "" "" "g.94031092del" "" "VUS" ""
"0000497558" "1" "50" "1" "94528178" "94528178" "subst" "4.06666E-6" "03336" "ABCA4_001312" "g.94528178C>A" "" "{PMID:Hu 2019:31543898}" "" "" "" "Germline" "" "" "0" "" "" "g.94062622C>A" "" "VUS" ""
"0000497559" "2" "50" "1" "94528146" "94528146" "subst" "0" "03336" "ABCA4_000775" "g.94528146A>T" "" "{PMID:Hu 2019:31543898}" "" "" "" "Germline" "" "" "0" "" "" "g.94062590A>T" "" "VUS" ""
"0000497560" "1" "50" "1" "94546150" "94546150" "subst" "4.06828E-6" "03336" "ABCA4_000346" "g.94546150T>A" "" "{PMID:Hu 2019:31543898}" "" "" "" "Germline" "" "" "0" "" "" "g.94080594T>A" "" "VUS" ""
"0000497561" "2" "50" "1" "94506867" "94506867" "subst" "0" "03336" "ABCA4_001296" "g.94506867G>C" "" "{PMID:Hu 2019:31543898}" "" "" "" "Germline" "" "" "0" "" "" "g.94041311G>C" "" "VUS" ""
"0000497562" "1" "50" "1" "94512499" "94512499" "subst" "0.000130029" "03336" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Hu 2019:31543898}" "" "" "" "Germline" "" "" "0" "" "" "g.94046943T>C" "" "VUS" ""
"0000497563" "2" "50" "1" "94508383" "94508383" "subst" "0" "03336" "ABCA4_001299" "g.94508383G>T" "" "{PMID:Hu 2019:31543898}" "" "" "" "Germline" "" "" "0" "" "" "g.94042827G>T" "" "VUS" ""
"0000497564" "1" "50" "1" "94578589" "94578594" "" "0" "03336" "ABCA4_000249" "g.94578589_94578594del" "" "{PMID:Hu 2019:31543898}" "" "101_106delCTTTAT" "" "Germline" "" "" "0" "" "" "g.94113033_94113038del" "" "VUS" ""
"0000497565" "2" "50" "1" "94528137" "94528137" "subst" "2.03363E-5" "03336" "ABCA4_000774" "g.94528137C>T" "" "{PMID:Hu 2019:31543898}" "" "" "" "Germline" "" "" "0" "" "" "g.94062581C>T" "" "VUS" ""
"0000497566" "1" "50" "1" "94574147" "94574147" "del" "0" "03336" "ABCA4_001323" "g.94574147del" "" "{PMID:Hu 2019:31543898}" "" "428delC" "" "Germline" "" "" "0" "" "" "g.94108591del" "" "VUS" ""
"0000497567" "2" "50" "1" "94473807" "94473807" "subst" "0.00480453" "03336" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Hu 2019:31543898}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000497568" "1" "50" "1" "94506867" "94506867" "subst" "0" "03336" "ABCA4_001296" "g.94506867G>C" "" "{PMID:Hu 2019:31543898}" "" "" "" "Germline" "" "" "0" "" "" "g.94041311G>C" "" "VUS" ""
"0000497569" "2" "50" "1" "94528266" "94528266" "subst" "4.477E-5" "03336" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Hu 2019:31543898}" "" "" "" "Germline" "" "" "0" "" "" "g.94062710G>A" "" "VUS" ""
"0000497571" "1" "50" "1" "94528266" "94528266" "subst" "4.477E-5" "03336" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Hu 2019:31543898}" "" "" "" "Germline" "" "" "0" "" "" "g.94062710G>A" "" "VUS" ""
"0000497572" "2" "50" "1" "94526230" "94526230" "subst" "7.32136E-5" "03336" "ABCA4_000760" "g.94526230C>T" "" "{PMID:Hu 2019:31543898}" "" "" "" "Germline" "" "" "0" "" "" "g.94060674C>T" "" "VUS" ""
"0000497574" "1" "50" "1" "94528266" "94528266" "subst" "4.477E-5" "03336" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Hu 2019:31543898}" "" "" "" "Germline" "" "" "0" "" "" "g.94062710G>A" "" "VUS" ""
"0000497575" "2" "50" "1" "94463583" "94463583" "subst" "8.12183E-6" "03336" "ABCA4_000806" "g.94463583A>G" "" "{PMID:Hu 2019:31543898}" "" "" "" "Germline" "" "" "0" "" "" "g.93998027A>G" "" "VUS" ""
"0000497576" "3" "50" "1" "94476424" "94476424" "subst" "2.43694E-5" "03336" "ABCA4_000418" "g.94476424C>T" "" "{PMID:Hu 2019:31543898}" "" "" "" "Germline" "" "" "0" "" "" "g.94010868C>T" "" "VUS" ""
"0000497578" "1" "50" "1" "94476818" "94476818" "subst" "0" "03336" "ABCA4_000162" "g.94476818C>G" "" "{PMID:Hu 2019:31543898}" "" "" "" "Germline" "" "" "0" "" "" "g.94011262C>G" "" "VUS" ""
"0000497579" "2" "50" "1" "94466482" "94466482" "subst" "0" "03336" "ABCA4_000829" "g.94466482A>T" "" "{PMID:Hu 2019:31543898}" "" "" "" "Germline" "" "" "0" "" "" "g.94000926A>T" "" "VUS" ""
"0000497580" "1" "50" "1" "94520830" "94520830" "subst" "0" "03336" "ABCA4_000727" "g.94520830G>C" "" "{PMID:Hu 2019:31543898}" "" "" "" "Germline" "" "" "0" "" "" "g.94055274G>C" "" "VUS" ""
"0000497581" "2" "50" "1" "94502295" "94502295" "subst" "0" "03336" "ABCA4_000589" "g.94502295C>T" "" "{PMID:Hu 2019:31543898}" "" "" "" "Germline" "" "" "0" "" "" "g.94036739C>T" "" "VUS" ""
"0000497582" "1" "90" "1" "94543417" "94543418" "" "0" "03336" "ABCA4_001314" "g.94543417_94543418del" "" "{PMID:Hu 2019:31543898}" "" "1382_1383delAA" "" "Germline" "" "" "0" "" "" "g.94077861_94077862del" "" "pathogenic (recessive)" ""
"0000497583" "0" "50" "1" "94544142" "94544142" "subst" "0" "03336" "ABCA4_001316" "g.94544142T>C" "" "{PMID:Hu 2019:31543898}" "" "" "" "Germline" "" "" "0" "" "" "g.94078586T>C" "" "VUS" ""
"0000497584" "0" "50" "1" "94463583" "94463583" "subst" "8.12183E-6" "03336" "ABCA4_000806" "g.94463583A>G" "" "{PMID:Hu 2019:31543898}" "" "" "" "Germline" "" "" "0" "" "" "g.93998027A>G" "" "VUS" ""
"0000497585" "1" "50" "1" "94578589" "94578594" "del" "0" "03336" "ABCA4_000249" "g.94578589_94578594del" "" "{PMID:Hu 2019:31543898}" "" "101_106delCTTTAT" "" "Germline" "" "" "0" "" "" "g.94113033_94113038del" "" "VUS" ""
"0000497586" "2" "50" "1" "94496053" "94496053" "subst" "0.00437371" "03336" "ABCA4_000556" "g.94496053G>A" "" "{PMID:Hu 2019:31543898}" "" "" "" "Germline" "" "" "0" "" "" "g.94030497G>A" "" "VUS" ""
"0000497587" "1" "50" "1" "94508341" "94508341" "subst" "1.21857E-5" "03336" "ABCA4_001298" "g.94508341C>A" "" "{PMID:Hu 2019:31543898}" "" "" "" "Germline" "" "" "0" "" "" "g.94042785C>A" "" "VUS" ""
"0000497588" "2" "50" "1" "94485284" "94485284" "del" "0" "03336" "ABCA4_001284" "g.94485284del" "" "{PMID:Hu 2019:31543898}" "" "5050delA" "" "Germline" "" "" "0" "" "" "g.94019728del" "" "VUS" ""
"0000497589" "1" "50" "1" "94526190" "94526190" "" "0" "03336" "ABCA4_001308" "g.94526190dup" "" "{PMID:Hu 2019:31543898}" "" "2063_2064insA" "" "Germline" "" "" "0" "" "" "g.94060634dup" "" "VUS" ""
"0000497590" "0" "50" "1" "94544142" "94544142" "subst" "0" "03336" "ABCA4_001316" "g.94544142T>C" "" "{PMID:Hu 2019:31543898}" "" "" "" "Germline" "" "" "0" "" "" "g.94078586T>C" "" "VUS" ""
"0000497591" "0" "50" "1" "94476813" "94476813" "subst" "0" "03336" "ABCA4_000426" "g.94476813C>T" "" "{PMID:Hu 2019:31543898}" "" "" "" "Germline" "" "" "0" "" "" "g.94011257C>T" "" "VUS" ""
"0000497592" "1" "50" "1" "94485137" "94485137" "subst" "0" "03336" "ABCA4_000464" "g.94485137C>T" "" "{PMID:Hu 2019:31543898}" "" "" "" "Germline" "" "" "0" "" "" "g.94019581C>T" "" "VUS" ""
"0000497593" "2" "50" "1" "94474381" "94474381" "subst" "1.21849E-5" "03336" "ABCA4_000410" "g.94474381C>T" "" "{PMID:Hu 2019:31543898}" "" "" "" "Germline" "" "" "0" "" "" "g.94008825C>T" "" "VUS" ""
"0000497594" "1" "50" "1" "94526230" "94526230" "subst" "7.32136E-5" "03336" "ABCA4_000760" "g.94526230C>T" "" "{PMID:Hu 2019:31543898}" "" "" "" "Germline" "" "" "0" "" "" "g.94060674C>T" "" "VUS" ""
"0000497595" "2" "50" "1" "94528266" "94528266" "subst" "4.477E-5" "03336" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Hu 2019:31543898}" "" "" "" "Germline" "" "" "0" "" "" "g.94062710G>A" "" "VUS" ""
"0000497596" "1" "50" "1" "94546116" "94546116" "subst" "0" "03336" "ABCA4_001319" "g.94546116C>T" "" "{PMID:Hu 2019:31543898}" "" "" "" "Germline" "" "" "0" "" "" "g.94080560C>T" "" "VUS" ""
"0000497597" "2" "50" "1" "94510223" "94510223" "del" "0" "03336" "ABCA4_001303" "g.94510223del" "" "{PMID:Hu 2019:31543898}" "" "2996delA" "" "Germline" "" "" "0" "" "" "g.94044667del" "" "VUS" ""
"0000497598" "1" "50" "1" "94486895" "94486895" "subst" "3.24923E-5" "03336" "ABCA4_000484" "g.94486895C>T" "" "{PMID:Hu 2019:31543898}" "" "" "" "Germline" "" "" "0" "" "" "g.94021339C>T" "" "VUS" ""
"0000497599" "2" "50" "1" "94486896" "94486896" "subst" "3.65562E-5" "03336" "ABCA4_000085" "g.94486896G>A" "" "{PMID:Hu 2019:31543898}" "" "" "" "Germline" "" "" "0" "" "" "g.94021340G>A" "" "VUS" ""
"0000497600" "1" "90" "1" "94546127" "94546127" "del" "0" "03336" "ABCA4_001320" "g.94546127del" "" "{PMID:Hu 2019:31543898}" "" "1006delT" "" "Germline" "" "" "0" "" "" "g.94080571del" "" "pathogenic (recessive)" ""
"0000497601" "2" "50" "1" "94509027" "94509027" "subst" "4.06478E-6" "03336" "ABCA4_000661" "g.94509027T>C" "" "{PMID:Hu 2019:31543898}" "" "" "" "Germline" "" "" "0" "" "" "g.94043471T>C" "" "VUS" ""
"0000497602" "1" "50" "1" "94528137" "94528137" "subst" "2.03363E-5" "03336" "ABCA4_000774" "g.94528137C>T" "" "{PMID:Hu 2019:31543898}" "" "" "" "Germline" "" "" "0" "" "" "g.94062581C>T" "" "VUS" ""
"0000497603" "2" "50" "1" "94508993" "94508993" "subst" "0" "03336" "ABCA4_001301" "g.94508993A>C" "" "{PMID:Hu 2019:31543898}" "" "" "" "Germline" "" "" "0" "" "" "g.94043437A>C" "" "VUS" ""
"0000497604" "1" "50" "1" "94528311" "94528311" "subst" "0" "03336" "ABCA4_001138" "g.94528311T>C" "" "{PMID:Hu 2019:31543898}" "" "" "" "Germline" "" "" "0" "" "" "g.94062755T>C" "" "VUS" ""
"0000497605" "2" "50" "1" "94480095" "94480095" "subst" "4.06095E-6" "03336" "ABCA4_001281" "g.94480095T>A" "" "{PMID:Hu 2019:31543898}" "" "" "" "Germline" "" "" "0" "" "" "g.94014539T>A" "" "VUS" ""
"0000497606" "1" "50" "1" "94512499" "94512499" "subst" "0.000130029" "03336" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Hu 2019:31543898}" "" "" "" "Germline" "" "" "0" "" "" "g.94046943T>C" "" "VUS" ""
"0000497607" "2" "50" "1" "94476424" "94476424" "subst" "2.43694E-5" "03336" "ABCA4_000418" "g.94476424C>T" "" "{PMID:Hu 2019:31543898}" "" "" "" "Germline" "" "" "0" "" "" "g.94010868C>T" "" "VUS" ""
"0000497608" "1" "50" "1" "94463583" "94463583" "subst" "8.12183E-6" "03336" "ABCA4_000806" "g.94463583A>G" "" "{PMID:Hu 2019:31543898}" "" "" "" "Germline" "" "" "0" "" "" "g.93998027A>G" "" "VUS" ""
"0000497609" "2" "50" "1" "94578589" "94578594" "" "0" "03336" "ABCA4_000249" "g.94578589_94578594del" "" "{PMID:Hu 2019:31543898}" "" "101_106delCTTTAT" "" "Germline" "" "" "0" "" "" "g.94113033_94113038del" "" "VUS" ""
"0000497610" "1" "50" "1" "94508996" "94508996" "subst" "0" "03336" "ABCA4_001302" "g.94508996T>G" "" "{PMID:Hu 2019:31543898}" "" "" "" "Germline" "" "" "0" "" "" "g.94043440T>G" "" "VUS" ""
"0000497611" "2" "50" "1" "94578589" "94578594" "" "0" "03336" "ABCA4_000249" "g.94578589_94578594del" "" "{PMID:Hu 2019:31543898}" "" "101_106delCTTTAT" "" "Germline" "" "" "0" "" "" "g.94113033_94113038del" "" "VUS" ""
"0000497612" "1" "50" "1" "94506811" "94506811" "subst" "0" "03336" "ABCA4_001295" "g.94506811A>G" "" "{PMID:Hu 2019:31543898}" "" "" "" "Germline" "" "" "0" "" "" "g.94041255A>G" "" "VUS" ""
"0000497613" "2" "50" "1" "94466482" "94466482" "subst" "0" "03336" "ABCA4_000829" "g.94466482A>T" "" "{PMID:Hu 2019:31543898}" "" "" "" "Germline" "" "" "0" "" "" "g.94000926A>T" "" "VUS" ""
"0000497614" "3" "50" "1" "94577129" "94577129" "subst" "0" "03336" "ABCA4_001326" "g.94577129A>C" "" "{PMID:Hu 2019:31543898}" "" "" "" "Germline" "" "" "0" "" "" "g.94111573A>C" "" "VUS" ""
"0000497615" "1" "50" "1" "94528137" "94528137" "subst" "2.03363E-5" "03336" "ABCA4_000774" "g.94528137C>T" "" "{PMID:Hu 2019:31543898}" "" "" "" "Germline" "" "" "0" "" "" "g.94062581C>T" "" "VUS" ""
"0000497616" "2" "50" "1" "94578589" "94578594" "" "0" "03336" "ABCA4_000249" "g.94578589_94578594del" "" "{PMID:Hu 2019:31543898}" "" "101_106delCTTTAT" "" "Germline" "" "" "0" "" "" "g.94113033_94113038del" "" "VUS" ""
"0000497617" "1" "50" "1" "94485242" "94485242" "subst" "0" "03336" "ABCA4_001283" "g.94485242C>A" "" "{PMID:Hu 2019:31543898}" "" "" "" "Germline" "" "" "0" "" "" "g.94019686C>A" "" "VUS" ""
"0000497618" "2" "50" "1" "94510295" "94510296" "ins" "0" "03336" "ABCA4_001304" "g.94510295_94510296insTGGACCTGTGTT" "" "{PMID:Hu 2019:31543898}" "" "" "" "Germline" "" "" "0" "" "" "g.94044739_94044740insTGGACCTGTGTT" "" "VUS" ""
"0000497619" "1" "50" "1" "94473807" "94473807" "subst" "0.00480453" "03336" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Hu 2019:31543898}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000497620" "2" "50" "1" "94497396" "94497396" "subst" "0" "03336" "ABCA4_001291" "g.94497396G>A" "" "{PMID:Hu 2019:31543898}" "" "" "" "Germline" "" "" "0" "" "" "g.94031840G>A" "" "VUS" ""
"0000497621" "1" "50" "1" "94474381" "94474381" "subst" "1.21849E-5" "03336" "ABCA4_000410" "g.94474381C>T" "" "{PMID:Hu 2019:31543898}" "" "" "" "Germline" "" "" "0" "" "" "g.94008825C>T" "" "VUS" ""
"0000497622" "2" "90" "1" "94543417" "94543418" "del" "0" "03336" "ABCA4_001314" "g.94543417_94543418del" "" "{PMID:Hu 2019:31543898}" "" "1382_1383delAA" "" "Germline" "" "" "0" "" "" "g.94077861_94077862del" "" "pathogenic (recessive)" ""
"0000497623" "3" "50" "1" "94577010" "94577010" "subst" "1.22004E-5" "03336" "ABCA4_000224" "g.94577010T>C" "" "{PMID:Hu 2019:31543898}" "" "" "" "Germline" "" "" "0" "" "" "g.94111454T>C" "" "VUS" ""
"0000497624" "1" "50" "1" "94476424" "94476424" "subst" "2.43694E-5" "03336" "ABCA4_000418" "g.94476424C>T" "" "{PMID:Hu 2019:31543898}" "" "" "" "Germline" "" "" "0" "" "" "g.94010868C>T" "" "VUS" ""
"0000497625" "2" "50" "1" "94512499" "94512499" "subst" "0.000130029" "03336" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Hu 2019:31543898}" "" "" "" "Germline" "" "" "0" "" "" "g.94046943T>C" "" "VUS" ""
"0000497626" "1" "50" "1" "94467506" "94467506" "subst" "3.24913E-5" "03336" "ABCA4_000785" "g.94467506C>T" "" "{PMID:Hu 2019:31543898}" "" "" "" "Germline" "" "" "0" "" "" "g.94001950C>T" "" "VUS" ""
"0000497627" "2" "50" "1" "94526190" "94526190" "ins" "0" "03336" "ABCA4_001308" "g.94526190dup" "" "{PMID:Hu 2019:31543898}" "" "2063_2064insA" "" "Germline" "" "" "0" "" "" "g.94060634dup" "" "VUS" ""
"0000497628" "3" "50" "1" "94476351" "94476351" "subst" "0.000296608" "03336" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Hu 2019:31543898}" "" "" "" "Germline" "" "" "0" "" "" "g.94010795C>T" "" "VUS" ""
"0000497629" "1" "50" "1" "94463452" "94463452" "subst" "0" "03336" "ABCA4_001274" "g.94463452C>A" "" "{PMID:Hu 2019:31543898}" "" "" "" "Germline" "" "" "0" "" "" "g.93997896C>A" "" "VUS" ""
"0000497631" "2" "50" "1" "94467506" "94467506" "subst" "3.24913E-5" "03336" "ABCA4_000785" "g.94467506C>T" "" "{PMID:Hu 2019:31543898}" "" "" "" "Germline" "" "" "0" "" "" "g.94001950C>T" "" "VUS" ""
"0000497632" "1" "50" "1" "94526271" "94526271" "subst" "0" "03336" "ABCA4_001309" "g.94526271A>C" "" "{PMID:Hu 2019:31543898}" "" "" "" "Germline" "" "" "0" "" "" "g.94060715A>C" "" "VUS" ""
"0000497633" "2" "50" "1" "94586549" "94586549" "subst" "0" "03336" "ABCA4_001329" "g.94586549C>G" "" "{PMID:Hu 2019:31543898}" "" "" "" "Germline" "" "" "0" "" "" "g.94120993C>G" "" "VUS" ""
"0000497634" "1" "50" "1" "94528178" "94528178" "subst" "4.06666E-6" "03336" "ABCA4_001312" "g.94528178C>A" "" "{PMID:Hu 2019:31543898}" "" "" "" "Germline" "" "" "0" "" "" "g.94062622C>A" "" "VUS" ""
"0000497635" "2" "90" "1" "94528868" "94528868" "del" "0" "03336" "ABCA4_000304" "g.94528868del" "" "{PMID:Hu 2019:31543898}" "" "1561delG" "" "Germline" "" "" "0" "" "" "g.94063312del" "" "pathogenic (recessive)" ""
"0000497636" "1" "50" "1" "94471032" "94471032" "subst" "1.62553E-5" "03336" "ABCA4_000792" "g.94471032G>A" "" "{PMID:Hu 2019:31543898}" "" "" "" "Germline" "" "" "0" "" "" "g.94005476G>A" "" "VUS" ""
"0000497637" "2" "50" "1" "94528668" "94528668" "subst" "0" "03336" "ABCA4_001313" "g.94528668C>T" "" "{PMID:Hu 2019:31543898}" "" "" "" "Germline" "" "" "0" "" "" "g.94063112C>T" "" "VUS" ""
"0000497638" "1" "50" "1" "94463583" "94463583" "subst" "8.12183E-6" "03336" "ABCA4_000806" "g.94463583A>G" "" "{PMID:Hu 2019:31543898}" "" "" "" "Germline" "" "" "0" "" "" "g.93998027A>G" "" "VUS" ""
"0000497639" "2" "50" "1" "94526190" "94526190" "" "0" "03336" "ABCA4_001308" "g.94526190dup" "" "{PMID:Hu 2019:31543898}" "" "2063_2064insA" "" "Germline" "" "" "0" "" "" "g.94060634dup" "" "VUS" ""
"0000497640" "1" "50" "1" "94471026" "94471026" "subst" "1.21925E-5" "03336" "ABCA4_000791" "g.94471026G>A" "" "{PMID:Hu 2019:31543898}" "" "" "" "Germline" "" "" "0" "" "" "g.94005470G>A" "" "VUS" ""
"0000497641" "2" "50" "1" "94577013" "94577013" "subst" "0" "03336" "ABCA4_001325" "g.94577013A>G" "" "{PMID:Hu 2019:31543898}" "" "" "" "Germline" "" "" "0" "" "" "g.94111457A>G" "" "VUS" ""
"0000497642" "1" "50" "1" "94502737" "94502737" "subst" "0" "03336" "ABCA4_001292" "g.94502737G>C" "" "{PMID:Hu 2019:31543898}" "" "" "" "Germline" "" "" "0" "" "" "g.94037181G>C" "" "VUS" ""
"0000497643" "1" "50" "1" "94473260" "94473260" "del" "0" "03336" "ABCA4_000388" "g.94473260del" "" "{PMID:Hu 2019:31543898}" "" "5935delA" "" "Germline" "" "" "0" "" "" "g.94007704del" "" "VUS" ""
"0000497644" "2" "50" "1" "94577132" "94577132" "subst" "0" "03336" "ABCA4_000239" "g.94577132T>C" "" "{PMID:Hu 2019:31543898}" "" "" "" "Germline" "" "" "0" "" "" "g.94111576T>C" "" "VUS" ""
"0000497645" "3" "50" "1" "94546116" "94546116" "subst" "0" "03336" "ABCA4_001319" "g.94546116C>T" "" "{PMID:Hu 2019:31543898}" "" "" "" "Germline" "" "" "0" "" "" "g.94080560C>T" "" "VUS" ""
"0000497646" "0" "50" "1" "94471032" "94471032" "subst" "1.62553E-5" "03336" "ABCA4_000792" "g.94471032G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.94005476G>A" "" "VUS" ""
"0000497647" "0" "50" "1" "94505602" "94505602" "subst" "0" "03336" "ABCA4_001273" "g.94505602C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.94040046C>T" "" "VUS" ""
"0000497648" "1" "50" "1" "94471032" "94471032" "subst" "1.62553E-5" "03336" "ABCA4_000792" "g.94471032G>A" "" "{PMID:Hu 2019:31543898}" "" "" "" "Germline" "" "" "0" "" "" "g.94005476G>A" "" "VUS" ""
"0000497649" "2" "50" "1" "94496020" "94496020" "subst" "0" "03336" "ABCA4_001289" "g.94496020C>A" "" "{PMID:Hu 2019:31543898}" "" "" "" "Germline" "" "" "0" "" "" "g.94030464C>A" "" "VUS" ""
"0000497650" "1" "50" "1" "94509027" "94509027" "subst" "4.06478E-6" "03336" "ABCA4_000661" "g.94509027T>C" "" "{PMID:Hu 2019:31543898}" "" "" "" "Germline" "" "" "0" "" "" "g.94043471T>C" "" "VUS" ""
"0000497651" "2" "50" "1" "94485284" "94485284" "del" "0" "03336" "ABCA4_001284" "g.94485284del" "" "{PMID:Hu 2019:31543898}" "" "5050delA" "" "Germline" "" "" "0" "" "" "g.94019728del" "" "VUS" ""
"0000497652" "1" "50" "1" "94512499" "94512499" "subst" "0.000130029" "03336" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Hu 2019:31543898}" "" "" "" "Germline" "" "" "0" "" "" "g.94046943T>C" "" "VUS" ""
"0000497653" "2" "50" "1" "94578589" "94578594" "" "0" "03336" "ABCA4_000249" "g.94578589_94578594del" "" "{PMID:Hu 2019:31543898}" "" "101_106delCTTTAT" "" "Germline" "" "" "0" "" "" "g.94113033_94113038del" "" "VUS" ""
"0000497654" "1" "50" "1" "94528251" "94528251" "subst" "2.84824E-5" "03336" "ABCA4_000281" "g.94528251C>T" "" "{PMID:Hu 2019:31543898}" "" "" "" "Germline" "" "" "0" "" "" "g.94062695C>T" "" "VUS" ""
"0000497655" "2" "50" "1" "94546150" "94546150" "subst" "4.06828E-6" "03336" "ABCA4_000346" "g.94546150T>A" "" "{PMID:Hu 2019:31543898}" "" "" "" "Germline" "" "" "0" "" "" "g.94080594T>A" "" "VUS" ""
"0000497656" "1" "90" "1" "94543417" "94543418" "" "0" "03336" "ABCA4_001314" "g.94543417_94543418del" "" "{PMID:Hu 2019:31543898}" "" "1382_1383delAA" "" "Germline" "" "" "0" "" "" "g.94077861_94077862del" "" "pathogenic (recessive)" ""
"0000497657" "2" "50" "1" "94586560" "94586560" "subst" "0" "03336" "ABCA4_001330" "g.94586560G>T" "" "{PMID:Hu 2019:31543898}" "" "" "" "Germline" "" "" "0" "" "" "g.94121004G>T" "" "VUS" ""
"0000497658" "3" "70" "1" "94576998" "94576998" "subst" "0" "03336" "ABCA4_000222" "g.94576998A>G" "" "{PMID:Hu 2019:31543898}" "" "" "" "Germline" "" "" "0" "" "" "g.94111442A>G" "" "likely pathogenic (recessive)" ""
"0000497659" "1" "50" "1" "94496020" "94496020" "subst" "0" "03336" "ABCA4_001289" "g.94496020C>A" "" "{PMID:Hu 2019:31543898}" "" "" "" "Germline" "" "" "0" "" "" "g.94030464C>A" "" "VUS" ""
"0000497660" "2" "50" "1" "94546163" "94546163" "subst" "0" "03336" "ABCA4_001321" "g.94546163A>G" "" "{PMID:Hu 2019:31543898}" "" "" "" "Germline" "" "" "0" "" "" "g.94080607A>G" "" "VUS" ""
"0000508598" "0" "10" "1" "94461749" "94461749" "subst" "0.00632561" "02327" "ABCA4_001198" "g.94461749C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93996193C>T" "" "benign" ""
"0000508599" "0" "50" "1" "94463399" "94463413" "del" "0" "02330" "ABCA4_000851" "g.94463399_94463413del" "" "" "" "ABCA4(NM_000350.3):c.6729+5_6729+19delGTTGGCCCTGGGGCA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93997843_93997857del" "" "VUS" ""
"0000508600" "0" "50" "1" "94463425" "94463425" "subst" "0.000109787" "02327" "ABCA4_000853" "g.94463425G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93997869G>C" "" "VUS" ""
"0000508601" "0" "90" "1" "94463442" "94463442" "subst" "0" "02327" "ABCA4_001199" "g.94463442G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93997886G>C" "" "pathogenic" ""
"0000508602" "0" "70" "1" "94463568" "94463603" "del" "0" "02330" "ABCA4_000805" "g.94463568_94463603del" "" "" "" "ABCA4(NM_000350.3):c.6545_6580del (p.L2182_F2193del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93998012_93998047del" "" "likely pathogenic" ""
"0000508603" "0" "50" "1" "94466417" "94466417" "subst" "0" "02327" "ABCA4_001200" "g.94466417C>A" "" "" "" "ABCA4(NM_000350.3):c.6454G>T (p.G2152C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94000861C>A" "" "VUS" ""
"0000508604" "0" "50" "1" "94466455" "94466455" "subst" "0.000174618" "01943" "ABCA4_001201" "g.94466455C>T" "" "" "" "ABCA4(NM_000350.2):c.6416G>A (p.R2139Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94000899C>T" "" "VUS" ""
"0000508605" "0" "50" "1" "94466474" "94466474" "subst" "0" "02327" "ABCA4_001202" "g.94466474A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94000918A>G" "" "VUS" ""
"0000508606" "0" "10" "1" "94467441" "94467441" "subst" "0.0033225" "02330" "ABCA4_001203" "g.94467441G>A" "" "" "" "ABCA4(NM_000350.3):c.6255C>T (p.L2085=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94001885G>A" "" "benign" ""
"0000508607" "0" "50" "1" "94467478" "94467478" "subst" "8.93503E-5" "02327" "ABCA4_001204" "g.94467478C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94001922C>G" "" "VUS" ""
"0000508608" "0" "30" "1" "94467548" "94467548" "subst" "0.00295661" "02330" "ABCA4_000788" "g.94467548C>G" "" "" "" "ABCA4(NM_000350.2):c.6148G>C (p.V2050L), ABCA4(NM_000350.3):c.6148G>C (p.V2050L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94001992C>G" "" "likely benign" ""
"0000508609" "0" "50" "1" "94467548" "94467548" "subst" "0.00295661" "01943" "ABCA4_000788" "g.94467548C>G" "" "" "" "ABCA4(NM_000350.2):c.6148G>C (p.V2050L), ABCA4(NM_000350.3):c.6148G>C (p.V2050L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94001992C>G" "" "VUS" ""
"0000508610" "0" "90" "1" "94471025" "94471025" "subst" "0.00031698" "02327" "ABCA4_000096" "g.94471025C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94005469C>T" "" "pathogenic" ""
"0000508612" "0" "90" "1" "94471055" "94471055" "subst" "0.00035346" "01943" "ABCA4_000029" "g.94471055C>T" "" "" "" "ABCA4(NM_000350.2):c.6089G>A (p.R2030Q), ABCA4(NM_000350.3):c.6089G>A (p.R2030Q, p.(Arg2030Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94005499C>T" "" "pathogenic" ""
"0000508613" "0" "70" "1" "94471055" "94471055" "subst" "0.00035346" "02327" "ABCA4_000029" "g.94471055C>T" "" "" "" "ABCA4(NM_000350.2):c.6089G>A (p.R2030Q), ABCA4(NM_000350.3):c.6089G>A (p.R2030Q, p.(Arg2030Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94005499C>T" "" "likely pathogenic" ""
"0000508615" "0" "50" "1" "94476464" "94476464" "subst" "4.06266E-5" "02330" "ABCA4_001205" "g.94476464G>A" "" "" "" "ABCA4(NM_000350.3):c.5606C>T (p.P1869L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94010908G>A" "" "VUS" ""
"0000508618" "0" "10" "1" "94476805" "94476805" "subst" "2.84722E-5" "02330" "ABCA4_001206" "g.94476805G>A" "" "" "" "ABCA4(NM_000350.3):c.5584+13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94011249G>A" "" "benign" ""
"0000508619" "0" "50" "1" "94476890" "94476890" "subst" "4.06227E-6" "02327" "ABCA4_000434" "g.94476890G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94011334G>C" "" "VUS" ""
"0000508620" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "02327" "ABCA4_000025" "g.94476951A>G" "" "" "" "ABCA4(NM_000350.2):c.5461-10T>C, ABCA4(NM_000350.3):c.5461-10T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94011395A>G" "" "pathogenic" ""
"0000508621" "0" "90" "1" "94480178" "94480178" "subst" "2.43692E-5" "01943" "ABCA4_000005" "g.94480178G>T" "" "" "" "ABCA4(NM_000350.2):c.5381C>A (p.A1794D), ABCA4(NM_000350.3):c.5381C>A (p.A1794D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94014622G>T" "" "pathogenic" ""
"0000508622" "0" "90" "1" "94480178" "94480178" "subst" "2.43692E-5" "02327" "ABCA4_000005" "g.94480178G>T" "" "" "" "ABCA4(NM_000350.2):c.5381C>A (p.A1794D), ABCA4(NM_000350.3):c.5381C>A (p.A1794D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94014622G>T" "" "pathogenic" ""
"0000508623" "0" "50" "1" "94480221" "94480221" "subst" "0.000109654" "02330" "ABCA4_000176" "g.94480221G>C" "" "" "" "ABCA4(NM_000350.3):c.5338C>G (p.P1780A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94014665G>C" "" "VUS" ""
"0000508624" "0" "90" "1" "94480222" "94480222" "subst" "4.06121E-6" "02327" "ABCA4_000442" "g.94480222G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94014666G>T" "" "pathogenic" ""
"0000508625" "0" "50" "1" "94480230" "94480230" "subst" "6.09177E-5" "02327" "ABCA4_001053" "g.94480230T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94014674T>A" "" "VUS" ""
"0000508626" "0" "30" "1" "94481287" "94481287" "subst" "0.000171629" "01943" "ABCA4_001207" "g.94481287C>T" "" "" "" "ABCA4(NM_000350.2):c.5312+8G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94015731C>T" "" "likely benign" ""
"0000508627" "0" "30" "1" "94481399" "94481399" "subst" "8.18645E-6" "01943" "ABCA4_001208" "g.94481399G>A" "" "" "" "ABCA4(NM_000350.2):c.5208C>T (p.S1736=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94015843G>A" "" "likely benign" ""
"0000508628" "0" "10" "1" "94483995" "94483995" "subst" "0" "02330" "ABCA4_001209" "g.94483995T>C" "" "" "" "ABCA4(NM_000350.3):c.5196+1143A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94018439T>C" "" "benign" ""
"0000508629" "0" "90" "1" "94484125" "94484125" "subst" "0" "02330" "ABCA4_001210" "g.94484125T>C" "" "" "" "ABCA4(NM_000350.3):c.5196+1013A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94018569T>C" "" "pathogenic" ""
"0000508630" "0" "10" "1" "94485118" "94485118" "subst" "0.00129183" "02330" "ABCA4_000963" "g.94485118C>T" "" "" "" "ABCA4(NM_000350.3):c.5196+20G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94019562C>T" "" "benign" ""
"0000508631" "0" "90" "1" "94485173" "94485174" "del" "0" "02330" "ABCA4_000468" "g.94485173_94485174del" "" "" "" "ABCA4(NM_000350.3):c.5161_5162delAC (p.T1721Hfs*65)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94019617_94019618del" "" "pathogenic" ""
"0000508632" "0" "50" "1" "94486939" "94486939" "subst" "0" "02327" "ABCA4_001211" "g.94486939A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94021383A>T" "" "VUS" ""
"0000508633" "0" "10" "1" "94486973" "94486973" "subst" "1.22038E-5" "02330" "ABCA4_001212" "g.94486973G>A" "" "" "" "ABCA4(NM_000350.3):c.4849-8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94021417G>A" "" "benign" ""
"0000508634" "0" "30" "1" "94487404" "94487404" "subst" "0.00244055" "02330" "ABCA4_000497" "g.94487404C>T" "" "" "" "ABCA4(NM_000350.2):c.4771G>A (p.G1591R), ABCA4(NM_000350.3):c.4771G>A (p.G1591R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94021848C>T" "" "likely benign" ""
"0000508635" "0" "50" "1" "94487422" "94487422" "subst" "4.06108E-6" "02330" "ABCA4_001213" "g.94487422G>A" "" "" "" "ABCA4(NM_000350.3):c.4753C>T (p.R1585W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94021866G>A" "" "VUS" ""
"0000508636" "0" "50" "1" "94487490" "94487490" "subst" "0.00122268" "02330" "ABCA4_000506" "g.94487490A>G" "" "" "" "ABCA4(NM_000350.2):c.4685T>C (p.I1562T), ABCA4(NM_000350.3):c.4685T>C (p.I1562T, p.(Ile1562Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94021934A>G" "" "VUS" ""
"0000508637" "0" "50" "1" "94487490" "94487490" "subst" "0.00122268" "01943" "ABCA4_000506" "g.94487490A>G" "" "" "" "ABCA4(NM_000350.2):c.4685T>C (p.I1562T), ABCA4(NM_000350.3):c.4685T>C (p.I1562T, p.(Ile1562Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94021934A>G" "" "VUS" ""
"0000508638" "0" "10" "1" "94490499" "94490499" "subst" "0" "02330" "ABCA4_001214" "g.94490499T>A" "" "" "" "ABCA4(NM_000350.3):c.4634+11A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94024943T>A" "" "benign" ""
"0000508639" "0" "50" "1" "94490573" "94490573" "subst" "0" "02327" "ABCA4_001215" "g.94490573T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94025017T>A" "" "VUS" ""
"0000508640" "0" "90" "1" "94492937" "94492937" "subst" "0" "02330" "ABCA4_000529" "g.94492937G>A" "" "" "" "ABCA4(NM_000350.3):c.4539+2064C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94027381G>A" "" "pathogenic" ""
"0000508641" "0" "90" "1" "94492973" "94492973" "subst" "0" "02330" "ABCA4_000030" "g.94492973G>A" "" "" "" "ABCA4(NM_000350.2):c.4539+2028C>T, ABCA4(NM_000350.3):c.4539+2028C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94027417G>A" "" "pathogenic" ""
"0000508642" "0" "90" "1" "94492973" "94492973" "subst" "0" "01943" "ABCA4_000030" "g.94492973G>A" "" "" "" "ABCA4(NM_000350.2):c.4539+2028C>T, ABCA4(NM_000350.3):c.4539+2028C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94027417G>A" "" "pathogenic" ""
"0000508643" "0" "90" "1" "94495000" "94495000" "subst" "0" "02330" "ABCA4_000164" "g.94495000C>A" "" "" "" "ABCA4(NM_000350.3):c.4539+1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94029444C>A" "" "pathogenic" ""
"0000508644" "0" "50" "1" "94495021" "94495021" "subst" "0" "02330" "ABCA4_000537" "g.94495021C>A" "" "" "" "ABCA4(NM_000350.3):c.4519G>T (p.G1507W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94029465C>A" "" "VUS" ""
"0000508645" "0" "90" "1" "94495034" "94495034" "subst" "5.28994E-6" "02330" "ABCA4_000539" "g.94495034G>T" "" "" "" "ABCA4(NM_000350.2):c.4506C>A (p.C1502*), ABCA4(NM_000350.3):c.4506C>A (p.C1502*, p.(Cys1502Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94029478G>T" "" "pathogenic" ""
"0000508647" "0" "50" "1" "94495073" "94495073" "subst" "0.000245534" "01943" "ABCA4_000540" "g.94495073C>A" "" "" "" "ABCA4(NM_000350.2):c.4467G>T (p.R1489S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94029517C>A" "" "VUS" ""
"0000508648" "0" "90" "1" "94495104" "94495104" "subst" "0" "02327" "ABCA4_001216" "g.94495104C>T" "" "" "" "ABCA4(NM_000350.3):c.4436G>A (p.W1479*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94029548C>T" "" "pathogenic" ""
"0000508649" "0" "50" "1" "94495123" "94495123" "subst" "0.000117967" "02330" "ABCA4_000544" "g.94495123G>T" "" "" "" "ABCA4(NM_000350.3):c.4417C>A (p.L1473M, p.(Leu1473Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94029567G>T" "" "VUS" ""
"0000508650" "0" "70" "1" "94495177" "94495177" "subst" "1.22342E-5" "02327" "ABCA4_000023" "g.94495177A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94029621A>G" "" "likely pathogenic" ""
"0000508651" "0" "30" "1" "94495969" "94495969" "subst" "0.000162546" "02330" "ABCA4_001217" "g.94495969C>T" "" "" "" "ABCA4(NM_000350.3):c.4352+15G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94030413C>T" "" "likely benign" ""
"0000508652" "0" "50" "1" "94496097" "94496097" "subst" "0" "02327" "ABCA4_001218" "g.94496097A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94030541A>T" "" "VUS" ""
"0000508653" "0" "90" "1" "94496509" "94496509" "subst" "0.00475243" "02330" "ABCA4_001024" "g.94496509C>T" "" "" "" "ABCA4(NM_000350.3):c.4253+43G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94030953C>T" "" "pathogenic" ""
"0000508654" "0" "70" "1" "94496509" "94496509" "subst" "0.00475243" "02327" "ABCA4_001024" "g.94496509C>T" "" "" "" "ABCA4(NM_000350.3):c.4253+43G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94030953C>T" "" "likely pathogenic" ""
"0000508655" "0" "90" "1" "94496548" "94496548" "subst" "2.43787E-5" "02327" "ABCA4_000088" "g.94496548G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94030992G>A" "" "pathogenic" ""
"0000508656" "0" "30" "1" "94496611" "94496611" "subst" "4.06342E-5" "02330" "ABCA4_001219" "g.94496611G>A" "" "" "" "ABCA4(NM_000350.3):c.4194C>T (p.G1398=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94031055G>A" "" "likely benign" ""
"0000508657" "0" "30" "1" "94496665" "94496665" "subst" "3.25206E-5" "02330" "ABCA4_001220" "g.94496665C>T" "" "" "" "ABCA4(NM_000350.3):c.4140G>A (p.P1380=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94031109C>T" "" "likely benign" ""
"0000508658" "0" "90" "1" "94496666" "94496666" "subst" "0.000219568" "02330" "ABCA4_000019" "g.94496666G>A" "" "" "" "ABCA4(NM_000350.3):c.4139C>T (p.P1380L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94031110G>A" "" "pathogenic" ""
"0000508659" "0" "90" "1" "94497333" "94497333" "subst" "0" "02327" "ABCA4_001221" "g.94497333C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94031777C>T" "" "pathogenic" ""
"0000508660" "0" "50" "1" "94497425" "94497425" "subst" "0" "02330" "ABCA4_001222" "g.94497425G>C" "" "" "" "ABCA4(NM_000350.3):c.4037C>G (p.T1346R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94031869G>C" "" "VUS" ""
"0000508661" "0" "90" "1" "94497588" "94497588" "subst" "4.153E-6" "02327" "ABCA4_000049" "g.94497588G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94032032G>A" "" "pathogenic" ""
"0000508662" "0" "30" "1" "94502755" "94502755" "subst" "0.000528202" "01943" "ABCA4_001223" "g.94502755C>T" "" "" "" "ABCA4(NM_000350.2):c.3759G>A (p.T1253=), ABCA4(NM_000350.3):c.3759G>A (p.T1253=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94037199C>T" "" "likely benign" ""
"0000508663" "0" "10" "1" "94502851" "94502851" "subst" "3.25261E-5" "02330" "ABCA4_001224" "g.94502851C>T" "" "" "" "ABCA4(NM_000350.3):c.3663G>A (p.L1221=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94037295C>T" "" "benign" ""
"0000508664" "0" "10" "1" "94505604" "94505604" "subst" "0.00645586" "02327" "ABCA4_000092" "g.94505604A>C" "" "" "" "ABCA4(NM_000350.3):c.3602T>G (p.L1201R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94040048A>C" "" "benign" ""
"0000508665" "0" "50" "1" "94506952" "94506952" "subst" "0" "02327" "ABCA4_000628" "g.94506952G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94041396G>T" "" "VUS" ""
"0000508666" "0" "10" "1" "94508299" "94508299" "subst" "0.00039013" "02330" "ABCA4_001225" "g.94508299C>T" "" "" "" "ABCA4(NM_000350.3):c.3328+18G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94042743C>T" "" "benign" ""
"0000508667" "0" "70" "1" "94508373" "94508373" "subst" "0" "02330" "ABCA4_000639" "g.94508373C>T" "" "" "" "ABCA4(NM_000350.3):c.3272G>A (p.G1091E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94042817C>T" "" "likely pathogenic" ""
"0000508669" "0" "50" "1" "94508412" "94508412" "subst" "0" "02327" "ABCA4_000644" "g.94508412C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94042856C>T" "" "VUS" ""
"0000508670" "0" "30" "1" "94508432" "94508432" "subst" "0.000138077" "02330" "ABCA4_001226" "g.94508432C>T" "" "" "" "ABCA4(NM_000350.3):c.3213G>A (p.S1071=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94042876C>T" "" "likely benign" ""
"0000508671" "0" "50" "1" "94508888" "94508888" "subst" "0" "01943" "ABCA4_001227" "g.94508888G>C" "" "" "" "ABCA4(NM_000350.2):c.3190+4C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94043332G>C" "" "VUS" ""
"0000508672" "0" "70" "1" "94508969" "94508969" "subst" "0.00168642" "02330" "ABCA4_000021" "g.94508969G>A" "" "" "" "ABCA4(NM_000350.2):c.3113C>T (p.A1038V, p.(Ala1038Val)), ABCA4(NM_000350.3):c.3113C>T (p.A1038V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94043413G>A" "" "likely pathogenic" ""
"0000508673" "0" "50" "1" "94508969" "94508969" "subst" "0.00168642" "01943" "ABCA4_000021" "g.94508969G>A" "" "" "" "ABCA4(NM_000350.2):c.3113C>T (p.A1038V, p.(Ala1038Val)), ABCA4(NM_000350.3):c.3113C>T (p.A1038V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94043413G>A" "" "VUS" ""
"0000508674" "0" "30" "1" "94509019" "94509019" "subst" "1.6257E-5" "01943" "ABCA4_001228" "g.94509019A>C" "" "" "" "ABCA4(NM_000350.2):c.3063T>G (p.A1021=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94043463A>C" "" "likely benign" ""
"0000508675" "0" "30" "1" "94510163" "94510163" "subst" "3.24899E-5" "01943" "ABCA4_001229" "g.94510163G>A" "" "" "" "ABCA4(NM_000350.2):c.3050+6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94044607G>A" "" "likely benign" ""
"0000508676" "0" "70" "1" "94510272" "94510272" "subst" "4.06062E-6" "02325" "ABCA4_000070" "g.94510272T>C" "" "" "" "ABCA4(NM_000350.3):c.2947A>G (p.T983A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94044716T>C" "" "likely pathogenic" ""
"0000508677" "0" "50" "1" "94512518" "94512518" "subst" "8.12585E-5" "02330" "ABCA4_001230" "g.94512518T>A" "" "" "" "ABCA4(NM_000350.3):c.2875A>T (p.T959S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94046962T>A" "" "VUS" ""
"0000508678" "0" "50" "1" "94512550" "94512550" "subst" "2.8434E-5" "02330" "ABCA4_001231" "g.94512550C>T" "" "" "" "ABCA4(NM_000350.3):c.2843G>A (p.R948H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94046994C>T" "" "VUS" ""
"0000508679" "0" "10" "1" "94512565" "94512565" "subst" "0.030364" "02325" "ABCA4_000002" "g.94512565C>T" "" "" "" "ABCA4(NM_000350.3):c.2828G>A (p.R943Q, p.(Arg943Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94047009C>T" "" "benign" ""
"0000508680" "0" "50" "1" "94512574" "94512574" "subst" "0.00025589" "02330" "ABCA4_000694" "g.94512574G>C" "" "" "" "ABCA4(NM_000350.2):c.2819C>G (p.P940R), ABCA4(NM_000350.3):c.2819C>G (p.P940R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94047018G>C" "" "VUS" ""
"0000508681" "0" "50" "1" "94512602" "94512602" "subst" "0.000369717" "02330" "ABCA4_000052" "g.94512602C>T" "" "" "" "ABCA4(NM_000350.3):c.2791G>A (p.V931M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94047046C>T" "" "VUS" ""
"0000508682" "0" "50" "1" "94512605" "94512605" "subst" "0" "02327" "ABCA4_001232" "g.94512605A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94047049A>T" "" "VUS" ""
"0000508683" "0" "50" "1" "94514475" "94514475" "subst" "9.74667E-5" "02330" "ABCA4_001233" "g.94514475C>T" "" "" "" "ABCA4(NM_000350.3):c.2692G>A (p.E898K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94048919C>T" "" "VUS" ""
"0000508684" "0" "30" "1" "94514477" "94514477" "subst" "0.00118992" "02330" "ABCA4_000700" "g.94514477G>A" "" "" "" "ABCA4(NM_000350.2):c.2690C>T (p.T897I, p.(Thr897Ile)), ABCA4(NM_000350.3):c.2690C>T (p.T897I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94048921G>A" "" "likely benign" ""
"0000508685" "0" "10" "1" "94514521" "94514521" "subst" "8.12559E-6" "02330" "ABCA4_001234" "g.94514521A>C" "" "" "" "ABCA4(NM_000350.3):c.2654-8T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94048965A>C" "" "benign" ""
"0000508686" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "02330" "ABCA4_000034" "g.94517254C>G" "" "" "" "ABCA4(NM_000350.2):c.2588G>C (p.G863A, p.(Gly863Ala)), ABCA4(NM_000350.3):c.2588G>C (p.G863A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "rs76157638" "" "" "" "g.94051698C>G" "" "likely pathogenic" ""
"0000508687" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01943" "ABCA4_000034" "g.94517254C>G" "" "" "" "ABCA4(NM_000350.2):c.2588G>C (p.G863A, p.(Gly863Ala)), ABCA4(NM_000350.3):c.2588G>C (p.G863A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "rs76157638" "" "" "" "g.94051698C>G" "" "pathogenic" ""
"0000508688" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "02325" "ABCA4_000034" "g.94517254C>G" "" "" "" "ABCA4(NM_000350.2):c.2588G>C (p.G863A, p.(Gly863Ala)), ABCA4(NM_000350.3):c.2588G>C (p.G863A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "rs76157638" "" "" "" "g.94051698C>G" "" "likely pathogenic" ""
"0000508689" "0" "30" "1" "94517266" "94517266" "subst" "0.00217349" "02330" "ABCA4_001057" "g.94517266G>C" "" "" "" "ABCA4(NM_000350.2):c.2588-12C>G, ABCA4(NM_000350.3):c.2588-12C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94051710G>C" "" "likely benign" ""
"0000508690" "0" "50" "1" "94520708" "94520708" "subst" "0.00102774" "02330" "ABCA4_000074" "g.94520708A>G" "" "" "" "ABCA4(NM_000350.3):c.2546T>C (p.V849A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94055152A>G" "" "VUS" ""
"0000508691" "0" "30" "1" "94520881" "94520881" "subst" "1.2258E-5" "01943" "ABCA4_001235" "g.94520881G>C" "" "" "" "ABCA4(NM_000350.2):c.2383-10C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94055325G>C" "" "likely benign" ""
"0000508692" "0" "50" "1" "94526106" "94526106" "subst" "2.43893E-5" "02330" "ABCA4_000750" "g.94526106G>A" "" "" "" "ABCA4(NM_000350.3):c.2147C>T (p.T716M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94060550G>A" "" "VUS" ""
"0000508693" "0" "90" "1" "94526212" "94526212" "subst" "1.22012E-5" "02330" "ABCA4_000075" "g.94526212G>A" "" "" "" "ABCA4(NM_000350.3):c.2041C>T (p.R681*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94060656G>A" "" "pathogenic" ""
"0000508694" "0" "30" "1" "94528142" "94528142" "subst" "0.00153303" "01943" "ABCA4_000125" "g.94528142A>C" "" "" "" "ABCA4(NM_000350.2):c.1928T>G (p.V643G), ABCA4(NM_000350.3):c.1928T>G (p.V643G, p.(Val643Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94062586A>C" "" "likely benign" ""
"0000508695" "0" "30" "1" "94528143" "94528143" "subst" "0.00124448" "02330" "ABCA4_000076" "g.94528143C>T" "" "" "" "ABCA4(NM_000350.3):c.1927G>A (p.V643M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94062587C>T" "" "likely benign" ""
"0000508696" "0" "10" "1" "94528192" "94528192" "subst" "0.000797091" "02330" "ABCA4_001236" "g.94528192C>T" "" "" "" "ABCA4(NM_000350.3):c.1878G>A (p.A626=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94062636C>T" "" "benign" ""
"0000508697" "0" "90" "1" "94528248" "94528248" "subst" "1.22148E-5" "02330" "ABCA4_000279" "g.94528248A>T" "" "" "" "ABCA4(NM_000350.2):c.1822T>A (p.F608I), ABCA4(NM_000350.3):c.1822T>A (p.F608I, p.(Phe608Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94062692A>T" "" "pathogenic" ""
"0000508698" "0" "70" "1" "94528679" "94528679" "subst" "2.84368E-5" "02327" "ABCA4_000292" "g.94528679C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94063123C>G" "" "likely pathogenic" ""
"0000508699" "0" "30" "1" "94528736" "94528736" "subst" "0.000235562" "01943" "ABCA4_001237" "g.94528736T>C" "" "" "" "ABCA4(NM_000350.2):c.1692A>G (p.P564=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94063180T>C" "" "likely benign" ""
"0000508700" "0" "30" "1" "94528774" "94528774" "subst" "0.00264827" "02330" "ABCA4_000298" "g.94528774C>T" "" "" "" "ABCA4(NM_000350.2):c.1654G>A (p.V552I, p.(Val552Ile)), ABCA4(NM_000350.3):c.1654G>A (p.V552I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94063218C>T" "" "likely benign" ""
"0000508701" "0" "50" "1" "94528774" "94528774" "subst" "0.00264827" "01943" "ABCA4_000298" "g.94528774C>T" "" "" "" "ABCA4(NM_000350.2):c.1654G>A (p.V552I, p.(Val552Ile)), ABCA4(NM_000350.3):c.1654G>A (p.V552I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94063218C>T" "" "VUS" ""
"0000508702" "0" "10" "1" "94528781" "94528781" "subst" "3.65577E-5" "02330" "ABCA4_001238" "g.94528781G>A" "" "" "" "ABCA4(NM_000350.3):c.1647C>T (p.A549=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94063225G>A" "" "benign" ""
"0000508703" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "02330" "ABCA4_000020" "g.94528806A>G" "" "" "" "ABCA4(NM_000350.2):c.1622T>C (p.L541P), ABCA4(NM_000350.3):c.1622T>C (p.L541P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000508704" "0" "30" "1" "94528818" "94528818" "subst" "0.00205975" "02330" "ABCA4_001239" "g.94528818C>T" "" "" "" "ABCA4(NM_000350.2):c.1610G>A (p.R537H), ABCA4(NM_000350.3):c.1610G>A (p.R537H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94063262C>T" "" "likely benign" ""
"0000508705" "0" "50" "1" "94528818" "94528818" "subst" "0.00205975" "01943" "ABCA4_001239" "g.94528818C>T" "" "" "" "ABCA4(NM_000350.2):c.1610G>A (p.R537H), ABCA4(NM_000350.3):c.1610G>A (p.R537H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94063262C>T" "" "VUS" ""
"0000508706" "0" "70" "1" "94543278" "94543278" "subst" "0.000178952" "01943" "ABCA4_000004" "g.94543278G>A" "" "" "" "ABCA4(NM_000350.2):c.1522C>T (p.R508C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94077722G>A" "" "likely pathogenic" ""
"0000508707" "0" "50" "1" "94543291" "94543291" "subst" "1.21939E-5" "02330" "ABCA4_001240" "g.94543291A>T" "" "" "" "ABCA4(NM_000350.3):c.1509T>A (p.F503L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94077735A>T" "" "VUS" ""
"0000508708" "0" "10" "1" "94544140" "94544141" "ins" "0.000938872" "02330" "ABCA4_001241" "g.94544140_94544141insG" "" "" "" "ABCA4(NM_000350.3):c.1356+5_1356+6insC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94078584_94078585insG" "" "benign" ""
"0000508709" "0" "10" "1" "94544141" "94544141" "dup" "0" "02325" "ABCA4_000978" "g.94544141dup" "" "" "" "ABCA4(NM_000350.2):c.1356+10dupG, ABCA4(NM_000350.3):c.1356+10dupG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94078585dup" "" "benign" ""
"0000508710" "0" "10" "1" "94544141" "94544141" "dup" "0" "01943" "ABCA4_000978" "g.94544141dup" "" "" "" "ABCA4(NM_000350.2):c.1356+10dupG, ABCA4(NM_000350.3):c.1356+10dupG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94078585dup" "" "benign" ""
"0000508711" "0" "10" "1" "94544200" "94544200" "subst" "0" "02330" "ABCA4_001242" "g.94544200T>C" "" "" "" "ABCA4(NM_000350.3):c.1302A>G (p.V434=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94078644T>C" "" "benign" ""
"0000508712" "0" "10" "1" "94544251" "94544251" "subst" "3.24873E-5" "02330" "ABCA4_001243" "g.94544251A>G" "" "" "" "ABCA4(NM_000350.3):c.1251T>C (p.T417=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94078695A>G" "" "benign" ""
"0000508713" "0" "90" "1" "94544895" "94544895" "subst" "1.62455E-5" "02330" "ABCA4_000329" "g.94544895G>A" "" "" "" "ABCA4(NM_000350.3):c.1222C>T (p.R408*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94079339G>A" "" "pathogenic" ""
"0000508714" "0" "50" "1" "94546115" "94546115" "subst" "0" "02330" "ABCA4_000984" "g.94546115A>G" "" "" "" "ABCA4(NM_000350.3):c.1018T>C (p.Y340H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94080559A>G" "" "VUS" ""
"0000508715" "0" "50" "1" "94546261" "94546261" "subst" "0.000648567" "02327" "ABCA4_000353" "g.94546261G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94080705G>A" "" "VUS" ""
"0000508716" "0" "90" "1" "94546283" "94546283" "subst" "8.18311E-5" "02327" "ABCA4_000356" "g.94546283A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94080727A>G" "" "pathogenic" ""
"0000508717" "0" "50" "1" "94564385" "94564385" "subst" "1.21833E-5" "02327" "ABCA4_001244" "g.94564385A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94098829A>G" "" "VUS" ""
"0000508718" "0" "50" "1" "94568627" "94568627" "subst" "0.000422314" "02330" "ABCA4_000207" "g.94568627C>T" "" "" "" "ABCA4(NM_000350.2):c.514G>A (p.G172S), ABCA4(NM_000350.3):c.514G>A (p.G172S, p.(Gly172Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94103071C>T" "" "VUS" ""
"0000508719" "0" "30" "1" "94568675" "94568675" "subst" "0.00146249" "02330" "ABCA4_000210" "g.94568675T>C" "" "" "" "ABCA4(NM_000350.2):c.466A>G (p.I156V), ABCA4(NM_000350.3):c.466A>G (p.I156V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94103119T>C" "" "likely benign" ""
"0000508720" "0" "30" "1" "94568675" "94568675" "subst" "0.00146249" "01943" "ABCA4_000210" "g.94568675T>C" "" "" "" "ABCA4(NM_000350.2):c.466A>G (p.I156V), ABCA4(NM_000350.3):c.466A>G (p.I156V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94103119T>C" "" "likely benign" ""
"0000508721" "0" "90" "1" "94574256" "94574256" "subst" "2.8425E-5" "02327" "ABCA4_000040" "g.94574256G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94108700G>A" "" "pathogenic" ""
"0000508722" "0" "10" "1" "94576974" "94576974" "subst" "0.00115785" "02330" "ABCA4_000220" "g.94576974G>A" "" "" "" "ABCA4(NM_000350.3):c.302+20C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94111418G>A" "" "benign" ""
"0000508723" "0" "10" "1" "94577059" "94577059" "subst" "0.000686506" "02330" "ABCA4_000988" "g.94577059A>G" "" "" "" "ABCA4(NM_000350.3):c.237T>C (p.N79=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94111503A>G" "" "benign" ""
"0000508724" "0" "30" "1" "94578572" "94578572" "subst" "0" "02327" "ABCA4_001245" "g.94578572C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94113016C>T" "" "likely benign" ""
"0000508725" "0" "10" "1" "94578602" "94578602" "subst" "2.03321E-5" "02330" "ABCA4_001246" "g.94578602G>A" "" "" "" "ABCA4(NM_000350.3):c.87C>T (p.L29=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94113046G>A" "" "benign" ""
"0000597314" "21" "90" "1" "94512499" "94512499" "subst" "0.000130029" "03433" "ABCA4_000072" "g.94512499T>C" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.94046943T>C" "" "likely pathogenic" ""
"0000597315" "11" "70" "1" "94506764" "94506764" "subst" "0" "03433" "ABCA4_001173" "g.94506764C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.94041208C>T" "" "likely pathogenic" ""
"0000597316" "11" "90" "1" "94512499" "94512499" "subst" "0.000130029" "03433" "ABCA4_000072" "g.94512499T>C" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.94046943T>C" "" "pathogenic" ""
"0000597317" "21" "70" "1" "94490591" "94490591" "subst" "0" "03433" "ABCA4_001249" "g.94490591C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.94025035C>T" "" "likely pathogenic" ""
"0000597318" "21" "90" "1" "94528868" "94528868" "del" "0" "03433" "ABCA4_000304" "g.94528868del" "" "" "" "1561delG" "" "Germline" "yes" "" "0" "" "" "g.94063312del" "" "pathogenic" ""
"0000597319" "0" "90" "1" "94586580" "94586580" "subst" "0" "03433" "ABCA4_000260" "g.94586580G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.94121024G>A" "" "pathogenic" ""
"0000597320" "21" "90" "1" "94471026" "94471026" "subst" "1.21925E-5" "03433" "ABCA4_000791" "g.94471026G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.94005470G>A" "" "pathogenic" ""
"0000597337" "11" "90" "1" "94495983" "94495983" "subst" "8.12348E-6" "03433" "ABCA4_000547" "g.94495983C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.94030427C>T" "" "pathogenic" ""
"0000597340" "3" "70" "1" "94578589" "94578594" "del" "0" "03433" "ABCA4_000249" "g.94578589_94578594del" "" "" "" "101_106delCTTTAT" "" "Germline" "yes" "" "0" "" "" "g.94113033_94113038del" "" "likely pathogenic" ""
"0000597342" "11" "70" "1" "94495111" "94495111" "subst" "0" "03433" "ABCA4_001248" "g.94495111G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.94029555G>A" "" "likely pathogenic" ""
"0000597343" "21" "50" "1" "94471061" "94471061" "subst" "0" "03433" "ABCA4_001247" "g.94471061G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.94005505G>A" "" "VUS" ""
"0000597344" "21" "50" "1" "94528311" "94528311" "subst" "0" "03433" "ABCA4_001138" "g.94528311T>C" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.94062755T>C" "" "VUS" ""
"0000597346" "0" "90" "1" "94487455" "94487455" "subst" "4.06128E-6" "03433" "ABCA4_000504" "g.94487455C>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.94021899C>A" "" "pathogenic" ""
"0000597347" "0" "70" "1" "94466655" "94466655" "subst" "0" "03433" "ABCA4_000842" "g.94466655G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.94001099G>A" "" "likely pathogenic" ""
"0000597348" "21" "70" "1" "94490567" "94490567" "subst" "5.68528E-5" "03433" "ABCA4_000026" "g.94490567G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.94025011G>A" "" "likely pathogenic" ""
"0000597349" "11" "70" "1" "94508358" "94508358" "subst" "4.06167E-6" "03433" "ABCA4_000636" "g.94508358G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.94042802G>A" "" "likely pathogenic" ""
"0000602993" "3" "70" "1" "94486967" "94486967" "subst" "0" "01807" "ABCA4_001250" "g.94486967T>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.94021411T>C" "" "likely pathogenic" ""
"0000604204" "0" "90" "1" "94577135" "94577135" "subst" "2.43718E-5" "03265" "ABCA4_000240" "g.94577135C>T" "" "{PMID:Fadaie et al 2019:31397521}; {DOI:Fadaie et al 2019:10.1002/humu.23890}" "" "" "Midigene splicing assay shows 56% expression of deletion and 44% expression of missense variant." "In vitro (cloned)" "" "" "0" "" "" "g.94111579C>T" "" "NA" ""
"0000604205" "0" "10" "1" "94563992" "94563992" "subst" "0" "03265" "ABCA4_000943" "g.94563992G>A" "" "{PMID:Fadaie et al 2019:31397521}; {DOI:Fadaie et al 2019:10.1002/humu.23890}" "" "" "Midigene splicing assay normal" "In vitro (cloned)" "" "" "0" "" "" "g.94098436G>A" "" "NA" ""
"0000604206" "0" "10" "1" "94550775" "94550775" "subst" "0" "03265" "ABCA4_001259" "g.94550775A>G" "" "{PMID:Fadaie et al 2019:31397521}; {DOI:Fadaie et al 2019:10.1002/humu.23890}" "" "" "Midigene splicing assay normal" "In vitro (cloned)" "" "" "0" "" "" "g.94085219A>G" "" "NA" ""
"0000604207" "0" "90" "1" "94528128" "94528128" "subst" "0" "03265" "ABCA4_001258" "g.94528128C>T" "" "{PMID:Fadaie et al 2019:31397521}; {DOI:Fadaie et al 2019:10.1002/humu.23890}" "" "" "" "In vitro (cloned)" "" "" "0" "" "" "g.94062572C>T" "" "NA" ""
"0000604208" "0" "90" "1" "94526934" "94526934" "subst" "0" "03265" "ABCA4_000771" "g.94526934T>C" "" "{PMID:Fadaie et al 2019:31397521}; {DOI:Fadaie et al 2019:10.1002/humu.23890}" "" "" "" "In vitro (cloned)" "" "" "0" "" "" "g.94061378T>C" "" "NA" ""
"0000604209" "0" "10" "1" "94525509" "94525509" "subst" "0" "03265" "ABCA4_000747" "g.94525509T>C" "" "{PMID:Fadaie et al 2019:31397521}; {DOI:Fadaie et al 2019:10.1002/humu.23890}" "" "" "Midigene splicing assay normal" "In vitro (cloned)" "" "" "0" "" "" "g.94059953T>C" "" "NA" ""
"0000604210" "0" "90" "1" "94522386" "94522386" "subst" "0" "03265" "ABCA4_000746" "g.94522386C>T" "" "{PMID:Fadaie et al 2019:31397521}; {DOI:Fadaie et al 2019:10.1002/humu.23890}" "" "" "" "In vitro (cloned)" "" "" "0" "" "" "g.94056830C>T" "" "NA" ""
"0000604211" "0" "90" "1" "94511126" "94511126" "subst" "0" "03265" "ABCA4_001257" "g.94511126A>T" "" "{PMID:Fadaie et al 2019:31397521}; {DOI:Fadaie et al 2019:10.1002/humu.23890}" "" "" "Midigene splicing assay shows WT transcript expression down to 18%." "In vitro (cloned)" "" "" "0" "" "" "g.94045570A>T" "" "NA" ""
"0000604212" "0" "90" "1" "94509799" "94509799" "subst" "0" "03265" "ABCA4_000925" "g.94509799G>A" "" "{PMID:Fadaie et al 2019:31397521}; {DOI:Fadaie et al 2019:10.1002/humu.23890}" "" "" "" "In vitro (cloned)" "" "" "0" "" "" "g.94044243G>A" "" "NA" ""
"0000604213" "0" "10" "1" "94502913" "94502913" "subst" "4.08664E-6" "03265" "ABCA4_001256" "g.94502913C>T" "" "{PMID:Fadaie et al 2019:31397521}; {DOI:Fadaie et al 2019:10.1002/humu.23890}" "" "" "Midigene splicing assay normal" "In vitro (cloned)" "" "" "0" "" "" "g.94037357C>T" "" "NA" ""
"0000604214" "0" "90" "1" "94495923" "94495923" "subst" "0" "03265" "ABCA4_001255" "g.94495923C>T" "" "{PMID:Fadaie et al 2019:31397521}; {DOI:Fadaie et al 2019:10.1002/humu.23890}" "" "" "Midigene splicing assay shows WT transcript expression down to 16%." "In vitro (cloned)" "" "" "0" "" "" "g.94030367C>T" "" "NA" ""
"0000604215" "0" "10" "1" "94493272" "94493272" "subst" "0" "03265" "ABCA4_000904" "g.94493272C>A" "" "{PMID:Fadaie et al 2019:31397521}; {DOI:Fadaie et al 2019:10.1002/humu.23890}" "" "" "Midigene splicing assay normal" "In vitro (cloned)" "" "" "0" "" "" "g.94027716C>A" "" "NA" ""
"0000604216" "0" "90" "1" "94488942" "94488942" "subst" "0" "03265" "ABCA4_001254" "g.94488942C>T" "" "{PMID:Fadaie et al 2019:31397521}; {DOI:Fadaie et al 2019:10.1002/humu.23890}" "" "" "" "In vitro (cloned)" "" "" "0" "" "" "g.94023386C>T" "" "NA" ""
"0000604217" "0" "90" "1" "94486791" "94486791" "subst" "0" "03265" "ABCA4_001253" "g.94486791C>T" "" "{PMID:Fadaie et al 2019:31397521}; {DOI:Fadaie et al 2019:10.1002/humu.23890}" "" "" "" "In vitro (cloned)" "" "" "0" "" "" "g.94021235C>T" "" "NA" ""
"0000604218" "0" "10" "1" "94478330" "94478330" "subst" "0" "03265" "ABCA4_000195" "g.94478330G>T" "" "{PMID:Fadaie et al 2019:31397521}; {DOI:Fadaie et al 2019:10.1002/humu.23890}" "" "" "Midigene splicing assay normal" "In vitro (cloned)" "" "" "0" "" "" "g.94012774G>T" "" "NA" ""
"0000604219" "0" "90" "1" "94474432" "94474432" "subst" "0" "03265" "ABCA4_001252" "g.94474432A>C" "" "{PMID:Fadaie et al 2019:31397521}; {DOI:Fadaie et al 2019:10.1002/humu.23890}" "" "" "" "In vitro (cloned)" "" "" "0" "" "" "g.94008876A>C" "" "NA" ""
"0000604220" "0" "90" "1" "94470997" "94470997" "subst" "0" "03265" "ABCA4_001251" "g.94470997C>T" "" "{PMID:Fadaie et al 2019:31397521}; {DOI:Fadaie et al 2019:10.1002/humu.23890}" "" "" "" "In vitro (cloned)" "" "" "0" "" "" "g.94005441C>T" "" "NA" ""
"0000604221" "0" "10" "1" "94468019" "94468019" "subst" "0" "03265" "ABCA4_000877" "g.94468019G>A" "" "{PMID:Fadaie et al 2019:31397521}; {DOI:Fadaie et al 2019:10.1002/humu.23890}" "" "" "Midigene splicing assay normal" "In vitro (cloned)" "" "" "0" "" "" "g.94002463G>A" "" "NA" ""
"0000604222" "0" "90" "1" "94466559" "94466559" "subst" "0" "03265" "ABCA4_000833" "g.94466559T>C" "" "{PMID:Fadaie et al 2019:31397521}; {DOI:Fadaie et al 2019:10.1002/humu.23890}" "" "" "" "In vitro (cloned)" "" "" "0" "" "" "g.94001003T>C" "" "NA" ""
"0000606007" "0" "90" "1" "94471056" "94471056" "subst" "2.84398E-5" "02327" "ABCA4_000050" "g.94471056G>A" "" "" "" "ABCA4(NM_000350.3):c.6088C>T (p.R2030*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94005500G>A" "" "pathogenic" ""
"0000606008" "0" "10" "1" "94481904" "94481904" "subst" "0" "02327" "ABCA4_001260" "g.94481904C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94016348C>T" "" "benign" ""
"0000606009" "0" "50" "1" "94490534" "94490534" "subst" "0.000125895" "01943" "ABCA4_000520" "g.94490534G>A" "" "" "" "ABCA4(NM_000350.2):c.4610C>T (p.T1537M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94024978G>A" "" "VUS" ""
"0000606010" "0" "90" "1" "94496008" "94496008" "subst" "2.03056E-5" "02327" "ABCA4_000148" "g.94496008C>T" "" "" "" "ABCA4(NM_000350.3):c.4328G>A (p.(Arg1443His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94030452C>T" "" "pathogenic" ""
"0000606011" "0" "50" "1" "94496020" "94496020" "subst" "8.12143E-6" "02327" "ABCA4_000014" "g.94496020C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94030464C>T" "" "VUS" ""
"0000606012" "0" "30" "1" "94497487" "94497487" "subst" "1.62759E-5" "01943" "ABCA4_001261" "g.94497487C>T" "" "" "" "ABCA4(NM_000350.2):c.3975G>A (p.P1325=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94031931C>T" "" "likely benign" ""
"0000606013" "0" "30" "1" "94497594" "94497594" "subst" "0" "01943" "ABCA4_001262" "g.94497594C>T" "" "" "" "ABCA4(NM_000350.2):c.3868G>A (p.A1290T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94032038C>T" "" "likely benign" ""
"0000606014" "0" "90" "1" "94502343" "94502343" "dup" "0" "02327" "ABCA4_000592" "g.94502343dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94036787dup" "" "pathogenic" ""
"0000606015" "0" "30" "1" "94508432" "94508432" "subst" "0.000138077" "02327" "ABCA4_001226" "g.94508432C>T" "" "" "" "ABCA4(NM_000350.3):c.3213G>A (p.S1071=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94042876C>T" "" "likely benign" ""
"0000606016" "0" "50" "1" "94512574" "94512574" "subst" "0.00025589" "01943" "ABCA4_000694" "g.94512574G>C" "" "" "" "ABCA4(NM_000350.2):c.2819C>G (p.P940R), ABCA4(NM_000350.3):c.2819C>G (p.P940R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94047018G>C" "" "VUS" ""
"0000606017" "0" "30" "1" "94528775" "94528775" "subst" "0.000528009" "02330" "ABCA4_001263" "g.94528775C>T" "" "" "" "ABCA4(NM_000350.3):c.1653G>A (p.V551=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94063219C>T" "" "likely benign" ""
"0000606018" "0" "50" "1" "94544884" "94544886" "dup" "0" "02327" "ABCA4_000327" "g.94544884_94544886dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94079328_94079330dup" "" "VUS" ""
"0000606019" "0" "90" "1" "94548932" "94548932" "del" "4.06587E-6" "02327" "ABCA4_001022" "g.94548932del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94083376del" "" "pathogenic" ""
"0000630868" "0" "50" "1" "94528151" "94528151" "subst" "0" "01164" "ABCA4_000265" "g.94528151G>A" "" "" "" "" "ACMG: PM1,PM2,PP3; onset of symptoms at age 30y" "Germline" "" "" "0" "" "" "g.94062595G>A" "" "VUS" "ACMG"
"0000630869" "0" "70" "1" "94544200" "94544200" "del" "4.06072E-6" "01164" "ABCA4_000319" "g.94544200del" "" "" "" "" "ACMG: PVS1,PM2; onset of symptoms at age 30y" "Germline" "" "" "0" "" "" "g.94078644del" "" "likely pathogenic" "ACMG"
"0000644176" "0" "90" "1" "94487258" "94487258" "dup" "0" "01807" "ABCA4_001264" "g.94487258dup" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.94021702dup" "" "pathogenic" ""
"0000644178" "0" "90" "1" "94546148" "94546148" "subst" "0" "01807" "ABCA4_001265" "g.94546148C>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.94080592C>A" "" "pathogenic" ""
"0000647784" "1" "10" "1" "94461717" "94461717" "subst" "0.0703199" "03575" "ABCA4_000003" "g.94461717C>A" "235/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "235 heterozygous; {DB:CLININrs6666652}" "Germline" "" "rs6666652" "0" "" "" "g.93996161C>A" "" "benign" ""
"0000647785" "1" "70" "1" "94471025" "94471025" "subst" "0.00031698" "03575" "ABCA4_000096" "g.94471025C>T" "3/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 heterozygous, no homozygous; {DB:CLININrs148460146}" "Germline" "" "rs148460146" "0" "" "" "g.94005469C>T" "" "likely pathogenic" ""
"0000647786" "1" "70" "1" "94471055" "94471055" "subst" "0.00035346" "03575" "ABCA4_000029" "g.94471055C>T" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs61750641}" "Germline" "" "rs61750641" "0" "" "" "g.94005499C>T" "" "likely pathogenic" ""
"0000647787" "1" "50" "1" "94473287" "94473287" "subst" "0.00293818" "03575" "ABCA4_000395" "g.94473287G>A" "3/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 3 heterozygous, no homozygous; {DB:CLININrs28938473}" "Germline" "" "rs28938473" "0" "" "" "g.94007731G>A" "" "VUS" ""
"0000647788" "1" "70" "1" "94473807" "94473807" "subst" "0.00480453" "03575" "ABCA4_000046" "g.94473807C>T" "64/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "64 heterozygous; {DB:CLININrs1800553}" "Germline" "" "rs1800553" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000647789" "1" "70" "1" "94480169" "94480170" "del" "0" "03575" "ABCA4_001266" "g.94480169_94480170del" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs786205445}" "Germline" "" "rs786205445" "0" "" "" "g.94014613_94014614del" "" "likely pathogenic" ""
"0000647790" "1" "70" "1" "94490567" "94490567" "subst" "5.68528E-5" "03575" "ABCA4_000026" "g.94490567G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs61750152}" "Germline" "" "rs61750152" "0" "" "" "g.94025011G>A" "" "likely pathogenic" ""
"0000647791" "1" "30" "1" "94496539" "94496539" "subst" "0.00288232" "03575" "ABCA4_001267" "g.94496539C>T" "19/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "19 heterozygous, no homozygous; {DB:CLININrs145766145}" "Germline" "" "rs145766145" "0" "" "" "g.94030983C>T" "" "likely benign" ""
"0000647792" "1" "90" "1" "94496666" "94496666" "subst" "0.000219568" "03575" "ABCA4_000019" "g.94496666G>A" "3/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 heterozygous, no homozygous; {DB:CLININrs61750130}" "Germline" "" "rs61750130" "0" "" "" "g.94031110G>A" "" "pathogenic" ""
"0000647793" "1" "70" "1" "94508969" "94508969" "subst" "0.00168642" "03575" "ABCA4_000021" "g.94508969G>A" "4/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "4 heterozygous, no homozygous; {DB:CLININrs61751374}" "Germline" "" "rs61751374" "0" "" "" "g.94043413G>A" "" "likely pathogenic" ""
"0000647794" "1" "30" "1" "94512565" "94512565" "subst" "0.030364" "03575" "ABCA4_000002" "g.94512565C>T" "182/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "182 heterozygous; {DB:CLININrs1801581}" "Germline" "" "rs1801581" "0" "" "" "g.94047009C>T" "" "likely benign" ""
"0000647795" "1" "50" "1" "94517254" "94517254" "subst" "0.00442654" "03575" "ABCA4_000034" "g.94517254C>G" "7/2792 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 7 heterozygous, no homozygous; {DB:CLININrs76157638}" "Germline" "" "rs76157638" "0" "" "" "g.94051698C>G" "" "VUS" ""
"0000647796" "1" "50" "1" "94528806" "94528806" "subst" "0.000150298" "03575" "ABCA4_000020" "g.94528806A>G" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; {DB:CLININrs61751392}" "Germline" "" "rs61751392" "0" "" "" "g.94063250A>G" "" "VUS" ""
"0000647797" "1" "30" "1" "94528818" "94528818" "subst" "0.00205975" "03575" "ABCA4_001239" "g.94528818C>T" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs61752395}" "Germline" "" "rs61752395" "0" "" "" "g.94063262C>T" "" "likely benign" ""
"0000647798" "1" "90" "1" "94564355" "94564355" "subst" "0.000105612" "03575" "ABCA4_000365" "g.94564355G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs62645952}" "Germline" "" "rs62645952" "0" "" "" "g.94098799G>A" "" "pathogenic" ""
"0000647800" "1" "70" "1" "94564484" "94564484" "subst" "0.000110199" "03575" "ABCA4_000036" "g.94564484G>A" "2/2788 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs61750200}" "Germline" "" "rs61750200" "0" "" "" "g.94098928G>A" "" "likely pathogenic" ""
"0000647801" "1" "50" "1" "94574205" "94574205" "subst" "2.03029E-5" "03575" "ABCA4_001268" "g.94574205G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs138359497}" "Germline" "" "rs138359497" "0" "" "" "g.94108649G>A" "" "VUS" ""
"0000653313" "1" "50" "1" "94528713" "94528713" "subst" "4.87381E-5" "03575" "ABCA4_000072" "g.94528713C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; {DB:CLININrs61748559}" "Germline" "" "rs61748559" "0" "" "" "g.94063157C>T" "" "VUS" ""
"0000654128" "0" "90" "1" "94467549" "94467549" "subst" "0" "02327" "ABCA4_001269" "g.94467549C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94001993C>A" "" "pathogenic" ""
"0000654129" "0" "90" "1" "94471056" "94471056" "subst" "2.84398E-5" "02330" "ABCA4_000050" "g.94471056G>A" "" "" "" "ABCA4(NM_000350.3):c.6088C>T (p.R2030*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94005500G>A" "" "pathogenic" ""
"0000654130" "0" "50" "1" "94473274" "94473274" "subst" "0" "02327" "ABCA4_000391" "g.94473274T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94007718T>C" "" "VUS" ""
"0000654131" "0" "50" "1" "94486964" "94486964" "subst" "0" "02327" "ABCA4_001270" "g.94486964A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94021408A>T" "" "VUS" ""
"0000654132" "0" "50" "1" "94495021" "94495021" "subst" "0" "02327" "ABCA4_000537" "g.94495021C>A" "" "" "" "ABCA4(NM_000350.3):c.4519G>T (p.G1507W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94029465C>A" "" "VUS" ""
"0000654133" "0" "90" "1" "94495071" "94495071" "subst" "6.39479E-5" "02330" "ABCA4_000997" "g.94495071C>T" "" "" "" "ABCA4(NM_000350.2):c.4469G>A (p.C1490Y), ABCA4(NM_000350.3):c.4469G>A (p.C1490Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94029515C>T" "" "pathogenic" ""
"0000654134" "0" "30" "1" "94502755" "94502755" "subst" "0.000528202" "02330" "ABCA4_001223" "g.94502755C>T" "" "" "" "ABCA4(NM_000350.2):c.3759G>A (p.T1253=), ABCA4(NM_000350.3):c.3759G>A (p.T1253=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94037199C>T" "" "likely benign" ""
"0000654136" "0" "70" "1" "94509026" "94509026" "subst" "4.06497E-5" "02327" "ABCA4_000660" "g.94509026G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94043470G>A" "" "likely pathogenic" ""
"0000654137" "0" "50" "1" "94514475" "94514475" "subst" "9.74667E-5" "02327" "ABCA4_001233" "g.94514475C>T" "" "" "" "ABCA4(NM_000350.3):c.2692G>A (p.E898K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94048919C>T" "" "VUS" ""
"0000654138" "0" "30" "1" "94517266" "94517266" "subst" "0.00217349" "02326" "ABCA4_001057" "g.94517266G>C" "" "" "" "ABCA4(NM_000350.2):c.2588-12C>G, ABCA4(NM_000350.3):c.2588-12C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94051710G>C" "" "likely benign" ""
"0000654139" "0" "50" "1" "94520801" "94520801" "subst" "0.000211489" "02327" "ABCA4_000724" "g.94520801C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94055245C>T" "" "VUS" ""
"0000654140" "0" "70" "1" "94577010" "94577010" "subst" "1.22004E-5" "02330" "ABCA4_000224" "g.94577010T>C" "" "" "" "ABCA4(NM_000350.3):c.286A>G (p.N96D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.94111454T>C" "" "likely pathogenic" ""
"0000659823" "0" "90" "1" "94467548" "94467548" "subst" "0.00295661" "00006" "ABCA4_000788" "g.94467548C>G" "" "{PMID:Blanco-Kelly 2017:28061825}" "" "" "no 2nd variant found; variant not related to phenotype reported" "Germline" "no" "" "0" "" "" "g.94001992C>G" "" "pathogenic (recessive)" ""
"0000663592" "1" "50" "1" "94544977" "94544977" "subst" "0.000544432" "00006" "ABCA4_000332" "g.94544977A>T" "" "{PMID:Arno 2017:28132693}" "" "" "heterozygous variant only, does not fit phenotype" "Germline" "" "" "0" "" "" "g.94079421A>T" "" "VUS" ""
"0000669032" "3" "10" "1" "94461717" "94461717" "subst" "0.0703199" "03575" "ABCA4_000003" "g.94461717C>A" "8/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "8 homozygous; {DB:CLININrs6666652}" "Germline" "" "rs6666652" "0" "" "" "g.93996161C>A" "" "benign" ""
"0000669033" "3" "70" "1" "94473807" "94473807" "subst" "0.00480453" "03575" "ABCA4_000046" "g.94473807C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs1800553}" "Germline" "" "rs1800553" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000669034" "3" "30" "1" "94512565" "94512565" "subst" "0.030364" "03575" "ABCA4_000002" "g.94512565C>T" "5/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "5 homozygous; {DB:CLININrs1801581}" "Germline" "" "rs1801581" "0" "" "" "g.94047009C>T" "" "likely benign" ""
"0000669035" "3" "30" "1" "94564483" "94564483" "subst" "0.0409724" "03575" "ABCA4_000009" "g.94564483C>T" "6/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "6 homozygous; {DB:CLININrs6657239}" "Germline" "" "rs6657239" "0" "" "" "g.94098927C>T" "" "likely benign" ""
"0000673650" "0" "90" "1" "94486794" "94486794" "subst" "0" "01164" "ABCA4_000478" "g.94486794A>G" "" "Burke et al. 2012. Ophthalmic Genet 34: 75; Riveiro-Alvarez et al. 2013. Ophthalmology 120: 2332; Downes et al. 2012. Arch Ophthalmol 130: 1486" "" "" "ACMG grading: PVS1,PM2,PP5" "Germline" "" "rs61750562" "0" "" "" "" "" "pathogenic" "ACMG"
"0000673651" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01164" "ABCA4_000117" "g.94528266G>A" "" "Ortube et al. 2014. BMC Med Genet 15: 11; Cideciyan et al. 2008. Hum Mol Genet 18: 931; Wiszniewski et al. 2005. Hum Mol Genet 14: 2769; Aguirre-Lamban et al. 2011. Invest Ophthalmol Vis Sci 52: 6206" "" "" "ACMG grading: PS4,PM2,PM3,PP1,PP3" "Germline" "" "rs61749409" "0" "" "" "" "" "pathogenic" "ACMG"
"0000674427" "2" "90" "1" "94546780" "94546780" "subst" "0" "01695" "ABCA4_001271" "g.94546780C>G" "" "{PMID:Sangermano 2019:30643219}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000674428" "1" "70" "1" "94528248" "94528248" "subst" "1.22148E-5" "01695" "ABCA4_000279" "g.94528248A>T" "" "{PMID:Sangermano 2019:30643219}" "" "" "" "Germline" "" "" "0" "" "" "g.94062692A>T" "" "likely pathogenic (recessive)" ""
"0000674429" "1" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Sangermano 2019:30643219}" "" "" "" "Germline" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000674430" "1" "90" "1" "94495177" "94495177" "subst" "1.22342E-5" "01695" "ABCA4_000023" "g.94495177A>G" "" "{PMID:Sangermano 2019:30643219}" "" "" "" "Germline" "" "" "0" "" "" "g.94029621A>G" "" "pathogenic (recessive)" ""
"0000674431" "1" "90" "1" "94548948" "94548948" "subst" "0" "01695" "ABCA4_000360" "g.94548948C>T" "" "{PMID:Sangermano 2019:30643219}" "" "[818G>A;5603A>T]" "" "Germline" "" "" "0" "" "" "g.94083392C>T" "" "pathogenic (recessive)" ""
"0000674432" "1" "90" "1" "94528248" "94528248" "subst" "1.22148E-5" "01695" "ABCA4_000279" "g.94528248A>T" "" "{PMID:Sangermano 2019:30643219}" "" "" "" "Germline" "" "" "0" "" "" "g.94062692A>T" "" "pathogenic (recessive)" ""
"0000674433" "1" "90" "1" "94528248" "94528248" "subst" "1.22148E-5" "01695" "ABCA4_000279" "g.94528248A>T" "" "{PMID:Sangermano 2019:30643219}" "" "" "" "Germline" "" "" "0" "" "" "g.94062692A>T" "" "pathogenic (recessive)" ""
"0000674434" "1" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Sangermano 2019:30643219}" "" "[5461-10T>C;5603A>T]" "" "Germline" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000674435" "1" "70" "1" "94490567" "94490567" "subst" "5.68528E-5" "01695" "ABCA4_000026" "g.94490567G>A" "" "{PMID:Sangermano 2019:30643219}" "" "" "" "Germline" "" "" "0" "" "" "g.94025011G>A" "" "likely pathogenic (recessive)" ""
"0000674436" "1" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Sangermano 2019:30643219}" "" "" "" "Germline" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000674437" "1" "90" "1" "94467541" "94467541" "del" "0" "01695" "ABCA4_000955" "g.94467541del" "" "{PMID:Sangermano 2019:30643219}" "" "" "" "Germline" "" "" "0" "" "" "g.94001985del" "" "pathogenic (recessive)" ""
"0000674438" "1" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Sangermano 2019:30643219}" "" "[5461-10T>C;5603A>T]" "" "Germline" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000674439" "1" "90" "1" "94493000" "94493000" "subst" "0" "01695" "ABCA4_000015" "g.94493000C>T" "" "{PMID:Sangermano 2019:30643219}" "" "" "" "Germline" "" "" "0" "" "" "g.94027444C>T" "" "pathogenic (recessive)" ""
"0000674440" "1" "90" "1" "94487401" "94487401" "subst" "4.06085E-6" "01695" "ABCA4_000995" "g.94487401C>T" "" "{PMID:Sangermano 2019:30643219}" "" "" "" "Germline" "" "" "0" "" "" "g.94021845C>T" "" "pathogenic (recessive)" ""
"0000674441" "1" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Sangermano 2019:30643219}" "" "" "" "Germline" "" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic (recessive)" ""
"0000674442" "1" "90" "1" "94484001" "94484001" "subst" "0" "01695" "ABCA4_000016" "g.94484001C>T" "" "{PMID:Sangermano 2019:30643219}" "" "" "" "Germline" "" "" "0" "" "" "g.94018445C>T" "" "pathogenic (recessive)" ""
"0000674443" "1" "90" "1" "94495000" "94495000" "subst" "0" "01695" "ABCA4_000164" "g.94495000C>A" "" "{PMID:Sangermano 2019:30643219}" "" "" "" "Germline" "" "" "0" "" "" "g.94029444C>A" "" "pathogenic (recessive)" ""
"0000674444" "1" "90" "1" "94495000" "94495000" "subst" "0" "01695" "ABCA4_000164" "g.94495000C>A" "" "{PMID:Sangermano 2019:30643219}" "" "" "" "Germline" "" "" "0" "" "" "g.94029444C>A" "" "pathogenic (recessive)" ""
"0000674445" "1" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Sangermano 2019:30643219}" "" "" "" "Germline" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000674446" "1" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Sangermano 2019:30643219}" "" "[2588G>C;5603A>T]" "" "Germline" "" "rs76157638" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000674447" "1" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Sangermano 2019:30643219}" "" "" "" "Germline" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000674448" "1" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Sangermano 2019:30643219}" "" "[2588G>C;5603A>T]" "" "Germline" "" "rs76157638" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000674449" "1" "10" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Sangermano 2019:30643219}" "" "[818G>A;5603A>T]" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "benign" ""
"0000674450" "1" "10" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Sangermano 2019:30643219}" "" "[5461-10T>C;5603A>T]" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "benign" ""
"0000674451" "1" "10" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Sangermano 2019:30643219}" "" "[5461-10T>C;5603A>T]" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "benign" ""
"0000674452" "1" "10" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Sangermano 2019:30643219}" "" "[2588G>C;5603A>T]" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "benign" ""
"0000674453" "1" "10" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Sangermano 2019:30643219}" "" "[2588G>C;5603A>T]" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "benign" ""
"0000674454" "2" "10" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Sangermano 2019:30643219}" "" "[769-784C>T;5603A>T]" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "benign" ""
"0000674455" "2" "10" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Sangermano 2019:30643219}" "" "[769-784C>T;5603A>T]" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "benign" ""
"0000674456" "2" "10" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Sangermano 2019:30643219}" "" "[769-784C>T;5603A>T]" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "benign" ""
"0000674457" "2" "10" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Sangermano 2019:30643219}" "" "[769-784C>T;5603A>T]" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "benign" ""
"0000674458" "2" "10" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Sangermano 2019:30643219}" "" "[769-784C>T;5603A>T]" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "benign" ""
"0000674459" "2" "10" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Sangermano 2019:30643219}" "" "[4253+43G>A;5603A>T]" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "benign" ""
"0000674460" "2" "10" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Sangermano 2019:30643219}" "" "[769-784C>T;5603A>T]" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "benign" ""
"0000674461" "2" "30" "1" "94471747" "94471747" "subst" "0" "01695" "ABCA4_000882" "g.94471747A>T" "" "{PMID:Sangermano 2019:30643219}" "" "[4253+43G>A;6006-609T>A]" "analysis mini-gene splicing assay" "Germline" "" "" "0" "" "" "g.94006191A>T" "" "likely benign" ""
"0000674462" "2" "10" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Sangermano 2019:30643219}" "" "[769-784C>T;5603A>T]" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "benign" ""
"0000674463" "2" "90" "1" "94527698" "94527698" "subst" "0" "01695" "ABCA4_001310" "g.94527698G>C" "" "{PMID:Sangermano 2019:30643219}" "" "" "analysis mini-gene splicing assay" "Germline" "" "" "0" "" "" "g.94062142G>C" "" "pathogenic (recessive)" ""
"0000674464" "2" "90" "1" "94527698" "94527698" "subst" "0" "01695" "ABCA4_001310" "g.94527698G>C" "" "{PMID:Sangermano 2019:30643219}" "" "" "analysis mini-gene splicing assay" "Germline" "" "" "0" "" "" "g.94062142G>C" "" "pathogenic (recessive)" ""
"0000674465" "2" "90" "1" "94496509" "94496509" "subst" "0.00475243" "01695" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Sangermano 2019:30643219}" "" "[4253+43G>A;6006-609T>A]" "analysis mini-gene splicing assay" "Germline" "" "" "0" "" "" "g.94030953C>T" "" "pathogenic (recessive)" ""
"0000674466" "2" "90" "1" "94496509" "94496509" "subst" "0.00475243" "01695" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Sangermano 2019:30643219}" "" "[4253+43G>A;6006-609T>A]" "analysis mini-gene splicing assay" "Germline" "" "" "0" "" "" "g.94030953C>T" "" "pathogenic (recessive)" ""
"0000674467" "2" "90" "1" "94496509" "94496509" "subst" "0.00475243" "01695" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Sangermano 2019:30643219}" "" "[4253+43G>A;6006-609T>A]" "analysis mini-gene splicing assay" "Germline" "" "" "0" "" "" "g.94030953C>T" "" "pathogenic (recessive)" ""
"0000674468" "2" "90" "1" "94496509" "94496509" "subst" "0.00475243" "01695" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Sangermano 2019:30643219}" "" "[4253+43G>A;6006-609T>A]" "analysis mini-gene splicing assay" "Germline" "" "" "0" "" "" "g.94030953C>T" "" "pathogenic (recessive)" ""
"0000674469" "2" "90" "1" "94496509" "94496509" "subst" "0.00475243" "01695" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Sangermano 2019:30643219}" "" "[4253+43G>A;6006-609T>A]" "analysis mini-gene splicing assay" "Germline" "" "" "0" "" "" "g.94030953C>T" "" "pathogenic (recessive)" ""
"0000674470" "2" "90" "1" "94496509" "94496509" "subst" "0.00475243" "01695" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Sangermano 2019:30643219}" "" "[4253+43G>A;5603A>T]" "analysis mini-gene splicing assay" "Germline" "" "" "0" "" "" "g.94030953C>T" "" "pathogenic (recessive)" ""
"0000674471" "2" "90" "1" "94496509" "94496509" "subst" "0.00475243" "01695" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Sangermano 2019:30643219}" "" "[4253+43G>A;6006-609T>A]" "analysis mini-gene splicing assay" "Germline" "" "" "0" "" "" "g.94030953C>T" "" "pathogenic (recessive)" ""
"0000674472" "2" "90" "1" "94496509" "94496509" "subst" "0.00475243" "01695" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Sangermano 2019:30643219}" "" "[4253+43G>A;6006-609T>A]" "analysis mini-gene splicing assay" "Germline" "" "" "0" "" "" "g.94030953C>T" "" "pathogenic (recessive)" ""
"0000674473" "2" "90" "1" "94549781" "94549781" "subst" "0" "01695" "ABCA4_001046" "g.94549781G>A" "" "{PMID:Sangermano 2019:30643219}" "" "[769-784C>T;5603A>T]" "analysis mini-gene splicing assay; variant activates pseudo-exon branch point" "Germline" "" "" "0" "" "" "g.94084225G>A" "" "pathogenic (recessive)" ""
"0000674474" "2" "90" "1" "94549781" "94549781" "subst" "0" "01695" "ABCA4_001046" "g.94549781G>A" "" "{PMID:Sangermano 2019:30643219}" "" "[769-784C>T;5603A>T]" "analysis mini-gene splicing assay; variant activates pseudo-exon branch point" "Germline" "" "" "0" "" "" "g.94084225G>A" "" "pathogenic (recessive)" ""
"0000674475" "2" "90" "1" "94549781" "94549781" "subst" "0" "01695" "ABCA4_001046" "g.94549781G>A" "" "{PMID:Sangermano 2019:30643219}" "" "[769-784C>T;5603A>T]" "analysis mini-gene splicing assay; variant activates pseudo-exon branch point" "Germline" "" "" "0" "" "" "g.94084225G>A" "" "pathogenic (recessive)" ""
"0000674476" "2" "90" "1" "94549781" "94549781" "subst" "0" "01695" "ABCA4_001046" "g.94549781G>A" "" "{PMID:Sangermano 2019:30643219}" "" "[769-784C>T;5603A>T]" "analysis mini-gene splicing assay; variant activates pseudo-exon branch point" "Germline" "" "" "0" "" "" "g.94084225G>A" "" "pathogenic (recessive)" ""
"0000674477" "2" "90" "1" "94549781" "94549781" "subst" "0" "01695" "ABCA4_001046" "g.94549781G>A" "" "{PMID:Sangermano 2019:30643219}" "" "[769-784C>T;5603A>T]" "analysis mini-gene splicing assay; variant activates pseudo-exon branch point" "Germline" "" "" "0" "" "" "g.94084225G>A" "" "pathogenic (recessive)" ""
"0000674478" "2" "90" "1" "94549781" "94549781" "subst" "0" "01695" "ABCA4_001046" "g.94549781G>A" "" "{PMID:Sangermano 2019:30643219}" "" "[769-784C>T;5603A>T]" "analysis mini-gene splicing assay; variant activates pseudo-exon branch point" "Germline" "" "" "0" "" "" "g.94084225G>A" "" "pathogenic (recessive)" ""
"0000674479" "2" "90" "1" "94549781" "94549781" "subst" "0" "01695" "ABCA4_001046" "g.94549781G>A" "" "{PMID:Sangermano 2019:30643219}" "" "[769-784C>T;5603A>T]" "analysis mini-gene splicing assay; variant activates pseudo-exon branch point" "Germline" "" "" "0" "" "" "g.94084225G>A" "" "pathogenic (recessive)" ""
"0000674480" "2" "30" "1" "94471747" "94471747" "subst" "0" "01695" "ABCA4_000882" "g.94471747A>T" "" "{PMID:Sangermano 2019:30643219}" "" "[4253+43G>A;6006-609T>A]" "analysis mini-gene splicing assay" "Germline" "" "" "0" "" "" "g.94006191A>T" "" "likely benign" ""
"0000674481" "2" "30" "1" "94471747" "94471747" "subst" "0" "01695" "ABCA4_000882" "g.94471747A>T" "" "{PMID:Sangermano 2019:30643219}" "" "[4253+43G>A;6006-609T>A]" "analysis mini-gene splicing assay" "Germline" "" "" "0" "" "" "g.94006191A>T" "" "likely benign" ""
"0000674482" "2" "30" "1" "94471747" "94471747" "subst" "0" "01695" "ABCA4_000882" "g.94471747A>T" "" "{PMID:Sangermano 2019:30643219}" "" "[4253+43G>A;6006-609T>A]" "analysis mini-gene splicing assay" "Germline" "" "" "0" "" "" "g.94006191A>T" "" "likely benign" ""
"0000674483" "2" "30" "1" "94471747" "94471747" "subst" "0" "01695" "ABCA4_000882" "g.94471747A>T" "" "{PMID:Sangermano 2019:30643219}" "" "[4253+43G>A;6006-609T>A]" "analysis mini-gene splicing assay" "Germline" "" "" "0" "" "" "g.94006191A>T" "" "likely benign" ""
"0000674484" "2" "30" "1" "94471747" "94471747" "subst" "0" "01695" "ABCA4_000882" "g.94471747A>T" "" "{PMID:Sangermano 2019:30643219}" "" "[4253+43G>A;6006-609T>A]" "analysis mini-gene splicing assay" "Germline" "" "" "0" "" "" "g.94006191A>T" "" "likely benign" ""
"0000674485" "2" "30" "1" "94471747" "94471747" "subst" "0" "01695" "ABCA4_000882" "g.94471747A>T" "" "{PMID:Sangermano 2019:30643219}" "" "[4253+43G>A;6006-609T>A]" "analysis mini-gene splicing assay" "Germline" "" "" "0" "" "" "g.94006191A>T" "" "likely benign" ""
"0000674486" "2" "90" "1" "94493901" "94493901" "subst" "0" "01695" "ABCA4_001288" "g.94493901T>C" "" "{PMID:Sangermano 2019:30643219}" "" "" "analysis mini-gene splicing assay" "Germline" "" "" "0" "" "" "g.94028345T>C" "" "pathogenic (recessive)" ""
"0000674487" "2" "90" "1" "94493901" "94493901" "subst" "0" "01695" "ABCA4_001288" "g.94493901T>C" "" "{PMID:Sangermano 2019:30643219}" "" "" "analysis mini-gene splicing assay" "Germline" "" "" "0" "" "" "g.94028345T>C" "" "pathogenic (recessive)" ""
"0000674488" "2" "90" "1" "94546780" "94546780" "subst" "0" "01695" "ABCA4_001271" "g.94546780C>G" "" "{PMID:Sangermano 2019:30643219}" "" "" "analysis mini-gene splicing assay" "Germline" "" "" "0" "" "" "g.94081224C>G" "" "pathogenic (recessive)" ""
"0000674489" "2" "90" "1" "94546780" "94546780" "subst" "0" "01695" "ABCA4_001271" "g.94546780C>G" "" "{PMID:Sangermano 2019:30643219}" "" "" "analysis mini-gene splicing assay" "Germline" "" "" "0" "" "" "g.94081224C>G" "" "pathogenic (recessive)" ""
"0000674490" "1" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Runhart 2018:29971439}" "" "" "" "Germline" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000674491" "1" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Runhart 2018:29971439}" "" "" "" "Germline" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000674492" "1" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Runhart 2018:29971439}" "" "" "" "Germline" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000674493" "1" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Runhart 2018:29971439}" "" "" "" "Germline" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000674494" "1" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Runhart 2018:29971439}" "" "" "" "Germline" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000674495" "1" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Runhart 2018:29971439}" "" "" "" "Germline" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000674496" "1" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Runhart 2018:29971439}" "" "" "" "Germline" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000674497" "1" "90" "1" "94495078" "94495078" "subst" "8.37044E-6" "01695" "ABCA4_000042" "g.94495078A>G" "" "{PMID:Runhart 2018:29971439}" "" "" "" "Germline" "" "" "0" "" "" "g.94029522A>G" "" "pathogenic (recessive)" ""
"0000674498" "1" "90" "1" "94528248" "94528248" "subst" "1.22148E-5" "01695" "ABCA4_000279" "g.94528248A>T" "" "{PMID:Runhart 2018:29971439}" "" "" "" "Germline" "" "" "0" "" "" "g.94062692A>T" "" "pathogenic (recessive)" ""
"0000674499" "1" "90" "1" "94474379" "94474380" "dup" "0" "01695" "ABCA4_000409" "g.94474379_94474380dup" "" "{PMID:Runhart 2018:29971439}" "" "" "" "Germline" "" "" "0" "" "" "g.94008823_94008824dup" "" "pathogenic (recessive)" ""
"0000674500" "1" "90" "1" "94508316" "94510301" "del" "0" "01695" "ABCA4_000041" "g.(94506959_94508316)_(94510301_94512474)del" "" "{PMID:Runhart 2018:29971439}" "" "" "" "Germline" "" "" "0" "" "" "g.(94041403_94042760)_(94044745_94046918)del" "" "pathogenic (recessive)" ""
"0000674501" "1" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Runhart 2018:29971439}" "" "" "" "Germline" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000674502" "1" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Runhart 2018:29971439}" "" "[5461-10T>C;5603A>T]" "" "Germline" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000674503" "1" "90" "1" "94473281" "94473281" "subst" "0" "01695" "ABCA4_000393" "g.94473281C>T" "" "{PMID:Runhart 2018:29971439}" "" "" "" "Germline" "" "" "0" "" "" "g.94007725C>T" "" "pathogenic (recessive)" ""
"0000674504" "1" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Runhart 2018:29971439}" "" "" "" "Germline" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000674505" "1" "90" "1" "94467541" "94467541" "del" "0" "01695" "ABCA4_000955" "g.94467541del" "" "{PMID:Runhart 2018:29971439}" "" "" "" "Germline" "" "" "0" "" "" "g.94001985del" "" "pathogenic (recessive)" ""
"0000674506" "1" "90" "1" "94497588" "94497588" "subst" "4.153E-6" "01695" "ABCA4_000049" "g.94497588G>A" "" "{PMID:Runhart 2018:29971439}" "" "" "" "Germline" "" "" "0" "" "" "g.94032032G>A" "" "pathogenic (recessive)" ""
"0000674507" "1" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Runhart 2018:29971439}" "" "" "" "Germline" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000674508" "1" "90" "1" "94466443" "94466443" "subst" "0" "01695" "ABCA4_001275" "g.94466443A>C" "" "{PMID:Runhart 2018:29971439}" "" "" "" "Germline" "" "" "0" "" "" "g.94000887A>C" "" "pathogenic (recessive)" ""
"0000674509" "1" "90" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Runhart 2018:29971439}" "" "" "" "Germline" "" "" "0" "" "" "g.94010795C>T" "" "pathogenic (recessive)" ""
"0000674510" "1" "90" "1" "94473278" "94473278" "del" "3.25908E-5" "01695" "ABCA4_000392" "g.94473278del" "" "{PMID:Runhart 2018:29971439}" "" "" "" "Germline" "" "" "0" "" "" "g.94007722del" "" "pathogenic (recessive)" ""
"0000674511" "1" "90" "1" "94528248" "94528248" "subst" "1.22148E-5" "01695" "ABCA4_000279" "g.94528248A>T" "" "{PMID:Runhart 2018:29971439}" "" "" "" "Germline" "" "" "0" "" "" "g.94062692A>T" "" "pathogenic (recessive)" ""
"0000674512" "1" "90" "1" "94508386" "94508386" "subst" "1.62443E-5" "01695" "ABCA4_000642" "g.94508386C>T" "" "{PMID:Runhart 2018:29971439}" "" "" "" "Germline" "" "" "0" "" "" "g.94042830C>T" "" "pathogenic (recessive)" ""
"0000674513" "1" "90" "1" "94526316" "94526316" "subst" "4.25152E-6" "01695" "ABCA4_000118" "g.94526316C>T" "" "{PMID:Runhart 2018:29971439}" "" "" "" "Germline" "" "" "0" "" "" "g.94060760C>T" "" "pathogenic (recessive)" ""
"0000674514" "1" "90" "1" "94473807" "94473807" "subst" "0" "01695" "ABCA4_001279" "g.94473807C>G" "" "{PMID:Runhart 2018:29971439}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>G" "" "pathogenic (recessive)" ""
"0000674515" "1" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Runhart 2018:29971439}" "" "" "" "Germline" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000674516" "1" "90" "1" "94495034" "94495034" "subst" "5.28994E-6" "01695" "ABCA4_000539" "g.94495034G>T" "" "{PMID:Runhart 2018:29971439}" "" "" "" "Germline" "" "" "0" "" "" "g.94029478G>T" "" "pathogenic (recessive)" ""
"0000674517" "1" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Runhart 2018:29971439}" "" "[5461-10T>C;5603A>T]" "" "Germline" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000674518" "1" "90" "1" "94496571" "94496571" "subst" "4.06174E-6" "01695" "ABCA4_000111" "g.94496571G>A" "" "{PMID:Runhart 2018:29971439}" "" "" "" "Germline" "" "" "0" "" "" "g.94031015G>A" "" "pathogenic (recessive)" ""
"0000674519" "1" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Runhart 2018:29971439}" "" "[5461-10T>C;5603A>T]" "incomplete penetrance" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS (!)" ""
"0000674520" "1" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Runhart 2018:29971439}" "" "[5461-10T>C;5603A>T]" "incomplete penetrance" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS (!)" ""
"0000674521" "2" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Runhart 2018:29971439}" "" "" "incomplete penetrance" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS (!)" ""
"0000674522" "2" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Runhart 2018:29971439}" "" "" "incomplete penetrance" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS (!)" ""
"0000674523" "2" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Runhart 2018:29971439}" "" "" "incomplete penetrance" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS (!)" ""
"0000674524" "2" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Runhart 2018:29971439}" "" "" "incomplete penetrance" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS (!)" ""
"0000674525" "2" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Runhart 2018:29971439}" "" "" "incomplete penetrance" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS (!)" ""
"0000674526" "2" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Runhart 2018:29971439}" "" "" "incomplete penetrance" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS (!)" ""
"0000674527" "2" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Runhart 2018:29971439}" "" "" "incomplete penetrance" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS (!)" ""
"0000674528" "2" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Runhart 2018:29971439}" "" "" "incomplete penetrance" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS (!)" ""
"0000674529" "2" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Runhart 2018:29971439}" "" "" "incomplete penetrance" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS (!)" ""
"0000674530" "2" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Runhart 2018:29971439}" "" "" "incomplete penetrance" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS (!)" ""
"0000674531" "2" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Runhart 2018:29971439}" "" "" "incomplete penetrance" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS (!)" ""
"0000674532" "2" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Runhart 2018:29971439}" "" "" "incomplete penetrance" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS (!)" ""
"0000674533" "2" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Runhart 2018:29971439}" "" "" "incomplete penetrance" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS (!)" ""
"0000674534" "2" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Runhart 2018:29971439}" "" "" "incomplete penetrance" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS (!)" ""
"0000674535" "2" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Runhart 2018:29971439}" "" "" "incomplete penetrance" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS (!)" ""
"0000674536" "2" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Runhart 2018:29971439}" "" "" "incomplete penetrance" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS (!)" ""
"0000674537" "2" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Runhart 2018:29971439}" "" "" "incomplete penetrance" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS (!)" ""
"0000674538" "2" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Runhart 2018:29971439}" "" "" "incomplete penetrance" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS (!)" ""
"0000674539" "2" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Runhart 2018:29971439}" "" "" "incomplete penetrance" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS (!)" ""
"0000674540" "2" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Runhart 2018:29971439}" "" "" "incomplete penetrance" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS (!)" ""
"0000674541" "2" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Runhart 2018:29971439}" "" "" "incomplete penetrance" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS (!)" ""
"0000674542" "2" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Runhart 2018:29971439}" "" "" "incomplete penetrance" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS (!)" ""
"0000674543" "2" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Runhart 2018:29971439}" "" "" "incomplete penetrance" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS (!)" ""
"0000674544" "2" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Runhart 2018:29971439}" "" "" "incomplete penetrance" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS (!)" ""
"0000674545" "2" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Runhart 2018:29971439}" "" "" "incomplete penetrance" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS (!)" ""
"0000674546" "2" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Runhart 2018:29971439}" "" "" "incomplete penetrance" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS (!)" ""
"0000674547" "2" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Runhart 2018:29971439}" "" "" "incomplete penetrance" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS (!)" ""
"0000674548" "2" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Runhart 2018:29971439}" "" "" "incomplete penetrance" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS (!)" ""
"0000674549" "2" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Runhart 2018:29971439}" "" "" "incomplete penetrance" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS (!)" ""
"0000674662" "2" "50" "1" "94480232" "94480232" "subst" "0" "03336" "ABCA4_000444" "g.94480232G>A" "" "{PMID:Hu 2019:31543898}" "" "" "" "Germline" "" "" "0" "" "" "g.94014676G>A" "" "VUS" ""
"0000674663" "1" "90" "1" "94463521" "94463521" "subst" "0" "03336" "ABCA4_001272" "g.94463521G>A" "" "{PMID:Hu 2019:31543898}" "" "" "" "Germline" "" "" "0" "" "" "g.93997965G>A" "" "pathogenic (recessive)" ""
"0000674664" "2" "50" "1" "94578589" "94578594" "del" "0" "03336" "ABCA4_000249" "g.94578589_94578594del" "" "{PMID:Hu 2019:31543898}" "" "101_106delCTTTAT" "" "Germline" "" "" "0" "" "" "g.94113033_94113038del" "" "VUS" ""
"0000674665" "1" "70" "1" "94461693" "94461693" "subst" "0" "00006" "ABCA4_000861" "g.94461693C>A" "" "{PMID:Hu 2019:31543898}" "" "" "no variant found 2nd allele" "Germline" "" "" "0" "" "" "g.93996137C>A" "" "VUS" ""
"0000674666" "1" "70" "1" "94466655" "94466655" "subst" "0" "00006" "ABCA4_000842" "g.94466655G>A" "" "{PMID:Hu 2019:31543898}" "" "" "no variant found 2nd allele" "Germline" "" "" "0" "" "" "g.94001099G>A" "" "VUS" ""
"0000674667" "1" "70" "1" "94544888" "94544888" "subst" "0" "00006" "ABCA4_001317" "g.94544888A>G" "" "{PMID:Hu 2019:31543898}" "" "" "no variant found 2nd allele" "Germline" "" "" "0" "" "" "g.94079332A>G" "" "VUS" ""
"0000674668" "1" "70" "1" "94543278" "94543278" "subst" "0.000178952" "00006" "ABCA4_000004" "g.94543278G>A" "" "{PMID:Hu 2019:31543898}" "" "" "no variant found 2nd allele" "Germline" "" "" "0" "" "" "g.94077722G>A" "" "VUS" ""
"0000675956" "0" "50" "1" "94467518" "94467518" "subst" "0" "01943" "ABCA4_001331" "g.94467518G>C" "" "" "" "ABCA4(NM_000350.2):c.6178C>G (p.L2060V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000675957" "0" "30" "1" "94473267" "94473267" "subst" "2.44407E-5" "01943" "ABCA4_001332" "g.94473267G>A" "" "" "" "ABCA4(NM_000350.2):c.5928C>T (p.A1976=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000675958" "0" "30" "1" "94481334" "94481334" "subst" "8.12625E-6" "01943" "ABCA4_001333" "g.94481334T>C" "" "" "" "ABCA4(NM_000350.2):c.5273A>G (p.E1758G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000675959" "0" "50" "1" "94512636" "94512636" "subst" "4.06669E-6" "02327" "ABCA4_001334" "g.94512636T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000675960" "0" "30" "1" "94520782" "94520782" "subst" "4.47271E-5" "01943" "ABCA4_001335" "g.94520782G>A" "" "" "" "ABCA4(NM_000350.2):c.2472C>T (p.I824=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000675961" "0" "30" "1" "94543327" "94543327" "subst" "0" "01943" "ABCA4_001336" "g.94543327A>C" "" "" "" "ABCA4(NM_000350.2):c.1473T>G (p.A491=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000684439" "1" "70" "1" "94578618" "94578618" "subst" "0.000166918" "00004" "ABCA4_000252" "g.94578618C>T" "2/899 cases" "{PMID:Holtan 2020:31429209}" "" "" "" "Germline" "" "" "0" "" "" "g.94113062C>T" "" "likely pathogenic (recessive)" ""
"0000684440" "1" "70" "1" "94577135" "94577135" "subst" "2.43718E-5" "00004" "ABCA4_000240" "g.94577135C>T" "2/899 cases" "{PMID:Holtan 2020:31429209}" "" "" "" "Germline" "" "" "0" "" "" "g.94111579C>T" "" "likely pathogenic (recessive)" ""
"0000684441" "1" "70" "1" "94577010" "94577010" "subst" "1.22004E-5" "00004" "ABCA4_000224" "g.94577010T>C" "1/899 cases" "{PMID:Holtan 2020:31429209}" "" "" "" "Germline" "" "" "0" "" "" "g.94111454T>C" "" "likely pathogenic (recessive)" ""
"0000684442" "1" "70" "1" "94568687" "94568687" "subst" "1.62641E-5" "00004" "ABCA4_000024" "g.94568687G>A" "1/899 cases" "{PMID:Holtan 2020:31429209}" "" "" "" "Germline" "" "" "0" "" "" "g.94103131G>A" "" "likely pathogenic (recessive)" ""
"0000684443" "1" "70" "1" "94564484" "94564484" "subst" "0.000110199" "00004" "ABCA4_000036" "g.94564484G>A" "1/899 cases" "{PMID:Holtan 2020:31429209}" "" "" "" "Germline" "" "" "0" "" "" "g.94098928G>A" "" "likely pathogenic (recessive)" ""
"0000684444" "1" "70" "1" "94564350" "94564350" "subst" "9.34268E-5" "00004" "ABCA4_000045" "g.94564350C>A" "2/899 cases" "{PMID:Holtan 2020:31429209}" "" "" "" "Germline" "" "" "0" "" "" "g.94098794C>A" "" "likely pathogenic (recessive)" ""
"0000684445" "1" "70" "1" "94546126" "94546126" "subst" "2.03383E-5" "00004" "ABCA4_000343" "g.94546126G>C" "1/899 cases" "{PMID:Holtan 2020:31429209}" "" "" "" "Germline" "" "" "0" "" "" "g.94080570G>C" "" "likely pathogenic (recessive)" ""
"0000684446" "1" "70" "1" "94543343" "94543343" "del" "0" "00004" "ABCA4_001350" "g.94543343del" "1/899 cases" "{PMID:Holtan 2020:31429209}" "" "" "" "Germline" "" "" "0" "" "" "g.94077787del" "" "likely pathogenic (recessive)" ""
"0000684447" "1" "70" "1" "94528818" "94528818" "subst" "0.00205975" "00004" "ABCA4_001239" "g.94528818C>T" "1/899 cases" "{PMID:Holtan 2020:31429209}" "" "" "" "Germline" "" "" "0" "" "" "g.94063262C>T" "" "likely pathogenic (recessive)" ""
"0000684448" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "00004" "ABCA4_000020" "g.94528806A>G" "5/899 cases" "{PMID:Holtan 2020:31429209}" "" "" "" "Germline" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000684449" "1" "70" "1" "94528774" "94528774" "subst" "0.00264827" "00004" "ABCA4_000298" "g.94528774C>T" "1/899 cases" "{PMID:Holtan 2020:31429209}" "" "" "" "Germline" "" "" "0" "" "" "g.94063218C>T" "" "likely pathogenic (recessive)" ""
"0000684450" "1" "70" "1" "94528266" "94528266" "subst" "4.477E-5" "00004" "ABCA4_000117" "g.94528266G>A" "1/899 cases" "{PMID:Holtan 2020:31429209}" "" "" "" "Germline" "" "" "0" "" "" "g.94062710G>A" "" "likely pathogenic (recessive)" ""
"0000684451" "1" "70" "1" "94528263" "94528263" "subst" "0" "00004" "ABCA4_001348" "g.94528263A>G" "1/899 cases" "{PMID:Holtan 2020:31429209}" "" "" "" "Germline" "" "" "0" "" "" "g.94062707A>G" "" "likely pathogenic (recessive)" ""
"0000684452" "1" "70" "1" "94528251" "94528251" "subst" "2.84824E-5" "00004" "ABCA4_000281" "g.94528251C>T" "2/899 cases" "{PMID:Holtan 2020:31429209}" "" "" "" "Germline" "" "" "0" "" "" "g.94062695C>T" "" "likely pathogenic (recessive)" ""
"0000684453" "1" "70" "1" "94528142" "94528142" "subst" "0.00153303" "00004" "ABCA4_000125" "g.94528142A>C" "1/899 cases" "{PMID:Holtan 2020:31429209}" "" "" "" "Germline" "" "" "0" "" "" "g.94062586A>C" "" "likely pathogenic (recessive)" ""
"0000684454" "1" "70" "1" "94526212" "94526212" "subst" "1.22012E-5" "00004" "ABCA4_000075" "g.94526212G>A" "7/899 cases" "{PMID:Holtan 2020:31429209}" "" "" "" "Germline" "" "" "0" "" "" "g.94060656G>A" "" "likely pathogenic (recessive)" ""
"0000684455" "1" "70" "1" "94520690" "94520690" "subst" "2.03102E-5" "00004" "ABCA4_000149" "g.94520690C>T" "1/899 cases" "{PMID:Holtan 2020:31429209}" "" "" "" "Germline" "" "" "0" "" "" "g.94055134C>T" "" "likely pathogenic (recessive)" ""
"0000684456" "1" "70" "1" "94517254" "94517254" "subst" "0.00442654" "00004" "ABCA4_000034" "g.94517254C>G" "5/899 cases" "{PMID:Holtan 2020:31429209}" "" "" "" "Germline" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000684457" "1" "70" "1" "94514466" "94514466" "subst" "0.00192081" "00004" "ABCA4_000008" "g.94514466T>C" "1/899 cases" "{PMID:Holtan 2020:31429209}" "" "" "" "Germline" "" "" "0" "" "" "g.94048910T>C" "" "likely pathogenic (recessive)" ""
"0000684458" "1" "70" "1" "94512478" "94512478" "subst" "3.65871E-5" "00004" "ABCA4_000678" "g.94512478G>T" "1/899 cases" "{PMID:Holtan 2020:31429209}" "" "" "" "Germline" "" "" "0" "" "" "g.94046922G>T" "" "likely pathogenic (recessive)" ""
"0000684459" "1" "70" "1" "94510192" "94510192" "del" "0" "00004" "ABCA4_001346" "g.94510192del" "1/899 cases" "{PMID:Holtan 2020:31429209}" "" "" "" "Germline" "" "" "0" "" "" "g.94044636del" "" "likely pathogenic (recessive)" ""
"0000684460" "1" "70" "1" "94508969" "94508969" "subst" "0.00168642" "00004" "ABCA4_000021" "g.94508969G>A" "6/899 cases" "{PMID:Holtan 2020:31429209}" "" "" "" "Germline" "" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic (recessive)" ""
"0000684461" "1" "70" "1" "94508904" "94508904" "subst" "0" "00004" "ABCA4_001345" "g.94508904G>A" "1/899 cases" "{PMID:Holtan 2020:31429209}" "" "" "" "Germline" "" "" "0" "" "" "g.94043348G>A" "" "likely pathogenic (recessive)" ""
"0000684462" "1" "70" "1" "94505684" "94505684" "subst" "1.73969E-5" "00004" "ABCA4_000102" "g.94505684C>T" "2/899 cases" "{PMID:Holtan 2020:31429209}" "" "" "" "Germline" "" "" "0" "" "" "g.94040128C>T" "" "likely pathogenic (recessive)" ""
"0000684463" "1" "70" "1" "94502832" "94502832" "subst" "0" "00004" "ABCA4_001341" "g.94502832C>T" "1/899 cases" "{PMID:Holtan 2020:31429209}" "" "" "" "Germline" "" "" "0" "" "" "g.94037276C>T" "" "likely pathogenic (recessive)" ""
"0000684464" "1" "70" "1" "94502295" "94502295" "subst" "0" "00004" "ABCA4_000589" "g.94502295C>T" "1/899 cases" "{PMID:Holtan 2020:31429209}" "" "" "" "Germline" "" "" "0" "" "" "g.94036739C>T" "" "likely pathogenic (recessive)" ""
"0000684465" "1" "70" "1" "94497563" "94497563" "subst" "0.00492504" "00004" "ABCA4_000090" "g.94497563C>T" "1/899 cases" "{PMID:Holtan 2020:31429209}" "" "" "" "Germline" "" "" "0" "" "" "g.94032007C>T" "" "likely pathogenic (recessive)" ""
"0000684466" "1" "70" "1" "94496666" "94496666" "subst" "0.000219568" "00004" "ABCA4_000019" "g.94496666G>A" "5/899 cases" "{PMID:Holtan 2020:31429209}" "" "" "" "Germline" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000684467" "1" "70" "1" "94496548" "94496548" "subst" "2.43787E-5" "00004" "ABCA4_000088" "g.94496548G>A" "2/899 cases" "{PMID:Holtan 2020:31429209}" "" "" "" "Germline" "" "" "0" "" "" "g.94030992G>A" "" "likely pathogenic (recessive)" ""
"0000684468" "1" "70" "1" "94495078" "94495078" "subst" "8.37044E-6" "00004" "ABCA4_000042" "g.94495078A>G" "1/899 cases" "{PMID:Holtan 2020:31429209}" "" "" "" "Germline" "" "" "0" "" "" "g.94029522A>G" "" "likely pathogenic (recessive)" ""
"0000684469" "1" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "00004" "ABCA4_000997" "g.94495071C>T" "1/899 cases" "{PMID:Holtan 2020:31429209}" "" "" "" "Germline" "" "" "0" "" "" "g.94029515C>T" "" "likely pathogenic (recessive)" ""
"0000684470" "1" "70" "1" "94495003" "94495003" "del" "0" "00004" "ABCA4_000534" "g.94495003del" "2/899 cases" "{PMID:Holtan 2020:31429209}" "" "" "" "Germline" "" "" "0" "" "" "g.94029447del" "" "likely pathogenic (recessive)" ""
"0000684471" "1" "70" "1" "94495003" "94495003" "dup" "0" "00004" "ABCA4_000087" "g.94495003dup" "3/899 cases" "{PMID:Holtan 2020:31429209}" "" "" "" "Germline" "" "" "0" "" "" "g.94029447dup" "" "likely pathogenic (recessive)" ""
"0000684472" "1" "70" "1" "94488940" "94488940" "subst" "0" "00004" "ABCA4_000511" "g.94488940A>G" "1/899 cases" "{PMID:Holtan 2020:31429209}" "" "" "" "Germline" "" "" "0" "" "" "g.94023384A>G" "" "likely pathogenic (recessive)" ""
"0000684473" "1" "70" "1" "94487490" "94487490" "subst" "0.00122268" "00004" "ABCA4_000506" "g.94487490A>G" "2/899 cases" "{PMID:Holtan 2020:31429209}" "" "" "" "Germline" "" "" "0" "" "" "g.94021934A>G" "" "likely pathogenic (recessive)" ""
"0000684474" "1" "70" "1" "94487401" "94487401" "subst" "4.06085E-6" "00004" "ABCA4_000995" "g.94487401C>T" "1/899 cases" "{PMID:Holtan 2020:31429209}" "" "" "" "Germline" "" "" "0" "" "" "g.94021845C>T" "" "likely pathogenic (recessive)" ""
"0000684475" "1" "70" "1" "94487399" "94487399" "subst" "7.30959E-5" "00004" "ABCA4_000038" "g.94487399T>C" "1/899 cases" "{PMID:Holtan 2020:31429209}" "" "" "" "Germline" "" "" "0" "" "" "g.94021843T>C" "" "likely pathogenic (recessive)" ""
"0000684476" "1" "70" "1" "94486895" "94486895" "subst" "3.24923E-5" "00004" "ABCA4_000484" "g.94486895C>T" "2/899 cases" "{PMID:Holtan 2020:31429209}" "" "" "" "Germline" "" "" "0" "" "" "g.94021339C>T" "" "likely pathogenic (recessive)" ""
"0000684477" "1" "70" "1" "94485137" "94485137" "subst" "0" "00004" "ABCA4_000464" "g.94485137C>T" "1/899 cases" "{PMID:Holtan 2020:31429209}" "" "" "" "Germline" "" "" "0" "" "" "g.94019581C>T" "" "likely pathogenic (recessive)" ""
"0000684478" "1" "70" "1" "94476951" "94476951" "subst" "0.000236097" "00004" "ABCA4_000025" "g.94476951A>G" "13/899 cases" "{PMID:Holtan 2020:31429209}" "" "" "" "Germline" "" "" "0" "" "" "g.94011395A>G" "" "likely pathogenic (recessive)" ""
"0000684479" "1" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00004" "ABCA4_000007" "g.94476467T>A" "9/899 cases" "{PMID:Holtan 2020:31429209}" "" "" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000684480" "1" "70" "1" "94476351" "94476351" "subst" "0.000296608" "00004" "ABCA4_000996" "g.94476351C>T" "1/899 cases" "{PMID:Holtan 2020:31429209}" "" "" "" "Germline" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000684481" "1" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00004" "ABCA4_000046" "g.94473807C>T" "12/899 cases" "{PMID:Holtan 2020:31429209}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000684482" "1" "70" "1" "94473266" "94473266" "subst" "8.14677E-6" "00004" "ABCA4_000389" "g.94473266C>T" "1/899 cases" "{PMID:Holtan 2020:31429209}" "" "" "" "Germline" "" "" "0" "" "" "g.94007710C>T" "" "likely pathogenic (recessive)" ""
"0000684483" "1" "70" "1" "94471065" "94471065" "subst" "0.000194997" "00004" "ABCA4_000384" "g.94471065G>A" "10/899 cases" "{PMID:Holtan 2020:31429209}" "" "" "" "Germline" "" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic (recessive)" ""
"0000684484" "1" "70" "1" "94467548" "94467548" "subst" "0.00295661" "00004" "ABCA4_000788" "g.94467548C>G" "1/899 cases" "{PMID:Holtan 2020:31429209}" "" "" "" "Germline" "" "" "0" "" "" "g.94001992C>G" "" "likely pathogenic (recessive)" ""
"0000684485" "1" "70" "1" "94467467" "94467467" "subst" "4.06164E-6" "00004" "ABCA4_000780" "g.94467467G>A" "2/899 cases" "{PMID:Holtan 2020:31429209}" "" "" "" "Germline" "" "" "0" "" "" "g.94001911G>A" "" "likely pathogenic (recessive)" ""
"0000684486" "1" "70" "1" "94466422" "94466422" "subst" "2.43651E-5" "00004" "ABCA4_000817" "g.94466422C>T" "1/899 cases" "{PMID:Holtan 2020:31429209}" "" "" "" "Germline" "" "" "0" "" "" "g.94000866C>T" "" "likely pathogenic (recessive)" ""
"0000684614" "3" "70" "1" "94476951" "94476951" "subst" "0.000236097" "00004" "ABCA4_000025" "g.94476951A>G" "1/899 cases" "{PMID:Holtan 2020:31429209}" "" "" "" "Germline" "" "" "0" "" "" "g.94011395A>G" "" "likely pathogenic (recessive)" ""
"0000684650" "3" "70" "1" "94463488" "94463488" "subst" "5.2803E-5" "00004" "ABCA4_000802" "g.94463488G>A" "2/899 cases" "{PMID:Holtan 2020:31429209}" "" "" "" "Germline" "" "" "0" "" "" "g.93997932G>A" "" "likely pathogenic (recessive)" ""
"0000684672" "1" "50" "1" "94528164" "94528164" "subst" "0" "00004" "ABCA4_001311" "g.94528164G>T" "1/86 cases" "{PMID:Kim 2019:31144483}" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "ACMG"
"0000684679" "1" "50" "1" "94487427" "94487427" "subst" "8.12176E-6" "00004" "ABCA4_001339" "g.94487427A>G" "1/86 cases" "{PMID:Kim 2019:31144483}" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "ACMG"
"0000684684" "1" "70" "1" "94470998" "94470998" "del" "0" "00004" "ABCA4_001337" "g.94470998del" "1/86 cases" "{PMID:Kim 2019:31144483}" "" "c.6146delA" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "ACMG"
"0000684685" "1" "70" "1" "94470998" "94470998" "del" "0" "00004" "ABCA4_001337" "g.94470998del" "1/86 cases" "{PMID:Kim 2019:31144483}" "" "c.6146delA" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "ACMG"
"0000684686" "1" "70" "1" "94506867" "94506867" "subst" "0" "00004" "ABCA4_001296" "g.94506867G>C" "1/86 cases" "{PMID:Kim 2019:31144483}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "ACMG"
"0000684687" "1" "70" "1" "94506867" "94506867" "subst" "0" "00004" "ABCA4_001296" "g.94506867G>C" "1/86 cases" "{PMID:Kim 2019:31144483}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "ACMG"
"0000684688" "1" "70" "1" "94506817" "94506817" "subst" "0" "00004" "ABCA4_001342" "g.94506817A>C" "1/86 cases" "{PMID:Kim 2019:31144483}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "ACMG"
"0000684689" "1" "50" "1" "94487413" "94487413" "subst" "0" "00004" "ABCA4_001338" "g.94487413T>A" "1/86 cases" "{PMID:Kim 2019:31144483}" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "ACMG"
"0000684706" "2" "70" "1" "94546253" "94546253" "subst" "0" "00004" "ABCA4_001351" "g.94546253G>A" "1/86 cases" "{PMID:Kim 2019:31144483}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "ACMG"
"0000684709" "2" "50" "1" "94528164" "94528164" "subst" "0" "00004" "ABCA4_001311" "g.94528164G>T" "1/86 cases" "{PMID:Kim 2019:31144483}" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "ACMG"
"0000684713" "2" "50" "1" "94528137" "94528137" "subst" "2.03363E-5" "00004" "ABCA4_000774" "g.94528137C>T" "1/86 cases" "{PMID:Kim 2019:31144483}" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "ACMG"
"0000684714" "2" "70" "1" "94506938" "94506938" "subst" "0" "00004" "ABCA4_001343" "g.94506938T>C" "1/86 cases" "{PMID:Kim 2019:31144483}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "ACMG"
"0000684715" "2" "70" "1" "94506943" "94506945" "del" "0" "00004" "ABCA4_001344" "g.94506943_94506945del" "1/86 cases" "{PMID:Kim 2019:31144483}" "" "c.3342_3344delCAT" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "ACMG"
"0000684716" "2" "70" "1" "94506943" "94506945" "del" "0" "00004" "ABCA4_001344" "g.94506943_94506945del" "1/86 cases" "{PMID:Kim 2019:31144483}" "" "c.3342_3344delCAT" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "ACMG"
"0000684717" "2" "50" "1" "94546264" "94546264" "subst" "4.08077E-6" "00004" "ABCA4_001352" "g.94546264C>T" "1/86 cases" "{PMID:Kim 2019:31144483}" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "ACMG"
"0000684718" "2" "70" "1" "94506817" "94506817" "subst" "0" "00004" "ABCA4_001342" "g.94506817A>C" "1/86 cases" "{PMID:Kim 2019:31144483}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "ACMG"
"0000684725" "0" "30" "1" "94578618" "94578618" "subst" "0.000166918" "00004" "ABCA4_000252" "g.94578618C>T" "frequency 0.016" "{PMID:Le 2019:31180159}" "" "" "classification based on frequency in 305 unrelated individuals" "Germline" "" "" "0" "" "" "g.94113062C>T" "" "likely benign" ""
"0000684893" "1" "70" "1" "94543269" "94543269" "subst" "0.000179087" "00004" "ABCA4_000307" "g.94543269G>A" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "c.[1531C>T; 872C>T]" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "ACMG"
"0000684894" "1" "70" "1" "94543389" "94543389" "subst" "0.000861235" "00004" "ABCA4_000312" "g.94543389C>T" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "c.[1411G>A;5693G>A]" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "ACMG"
"0000684895" "1" "90" "1" "94586601" "94586601" "subst" "8.12156E-6" "00004" "ABCA4_000264" "g.94586601T>C" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "c.[1A>G;6089G>A]" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG"
"0000684896" "0" "90" "1" "94463583" "94463583" "subst" "8.12183E-6" "00004" "ABCA4_000806" "g.94463583A>G" "6/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG"
"0000684897" "0" "70" "1" "94466558" "94466558" "subst" "0" "00004" "ABCA4_001011" "g.94466558C>T" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "ACMG"
"0000684898" "0" "90" "1" "94471067" "94471067" "del" "0" "00004" "ABCA4_001012" "g.94471067del" "4/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG"
"0000684899" "0" "70" "1" "94473266" "94473266" "subst" "8.14677E-6" "00004" "ABCA4_000389" "g.94473266C>T" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "ACMG"
"0000684900" "0" "90" "1" "94473278" "94473278" "del" "3.25908E-5" "00004" "ABCA4_000392" "g.94473278del" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG"
"0000684901" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "00004" "ABCA4_000046" "g.94473807C>T" "9/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG"
"0000684902" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "00004" "ABCA4_000046" "g.94473807C>T" "23/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG"
"0000684903" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "00004" "ABCA4_000046" "g.94473807C>T" "3/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG"
"0000684904" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "00004" "ABCA4_000046" "g.94473807C>T" "55/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG"
"0000684905" "0" "70" "1" "94474320" "94474320" "subst" "4.06065E-6" "00004" "ABCA4_000407" "g.94474320T>G" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "ACMG"
"0000684906" "0" "90" "1" "94476351" "94476351" "subst" "0.000296608" "00004" "ABCA4_000996" "g.94476351C>T" "2/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG"
"0000684907" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00004" "ABCA4_000007" "g.94476467T>A" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "ACMG"
"0000684908" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00004" "ABCA4_000007" "g.94476467T>A" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "ACMG"
"0000684909" "0" "90" "1" "94480098" "94480098" "subst" "0" "00004" "ABCA4_000437" "g.94480098C>T" "3/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG"
"0000684910" "0" "90" "1" "94480098" "94480098" "subst" "0" "00004" "ABCA4_000437" "g.94480098C>T" "5/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG"
"0000684911" "0" "90" "1" "94480179" "94480179" "subst" "0" "00004" "ABCA4_000991" "g.94480179C>G" "16/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG"
"0000684912" "0" "90" "1" "94480208" "94480208" "subst" "8.12275E-6" "00004" "ABCA4_001013" "g.94480208A>C" "5/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG"
"0000684913" "0" "90" "1" "94480223" "94480226" "del" "0" "00004" "ABCA4_001014" "g.94480223_94480226del" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG"
"0000684914" "0" "90" "1" "94480241" "94480241" "subst" "7.71705E-5" "00004" "ABCA4_000446" "g.94480241G>A" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG"
"0000684915" "0" "90" "1" "94480241" "94480241" "subst" "7.71705E-5" "00004" "ABCA4_000446" "g.94480241G>A" "2/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG"
"0000684916" "0" "90" "1" "94481294" "94481294" "subst" "0" "00004" "ABCA4_000110" "g.94481294C>T" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG"
"0000684917" "0" "90" "1" "94485137" "94485137" "subst" "0" "00004" "ABCA4_000464" "g.94485137C>T" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG"
"0000684918" "0" "90" "1" "94485145" "94485145" "subst" "0" "00004" "ABCA4_001015" "g.94485145C>T" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG"
"0000684919" "0" "90" "1" "94485165" "94485165" "subst" "0" "00004" "ABCA4_001016" "g.94485165G>C" "2/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG"
"0000684920" "0" "90" "1" "94485275" "94485275" "del" "0" "00004" "ABCA4_001017" "g.94485275del" "7/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG"
"0000684921" "0" "90" "1" "94486835" "94486835" "subst" "0" "00004" "ABCA4_001018" "g.94486835G>A" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG"
"0000684922" "0" "90" "1" "94486835" "94486835" "subst" "0" "00004" "ABCA4_001018" "g.94486835G>A" "2/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG"
"0000684923" "0" "90" "1" "94486835" "94486835" "subst" "0" "00004" "ABCA4_001018" "g.94486835G>A" "4/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG"
"0000684924" "0" "90" "1" "94486895" "94486895" "subst" "3.24923E-5" "00004" "ABCA4_000484" "g.94486895C>T" "2/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG"
"0000684925" "0" "90" "1" "94486895" "94486895" "subst" "3.24923E-5" "00004" "ABCA4_000484" "g.94486895C>T" "2/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG"
"0000684926" "0" "90" "1" "94486895" "94486895" "subst" "3.24923E-5" "00004" "ABCA4_000484" "g.94486895C>T" "3/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG"
"0000684927" "0" "90" "1" "94486896" "94486896" "subst" "3.65562E-5" "00004" "ABCA4_000085" "g.94486896G>A" "2/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG"
"0000684928" "0" "90" "1" "94486919" "94486919" "dup" "0" "00004" "ABCA4_001019" "g.94486919dup" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG"
"0000684929" "0" "70" "1" "94486960" "94486960" "subst" "1.62641E-5" "00004" "ABCA4_001169" "g.94486960C>G" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "ACMG"
"0000684930" "0" "90" "1" "94487251" "94487251" "subst" "2.85679E-5" "00004" "ABCA4_000490" "g.94487251G>T" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG"
"0000684931" "0" "90" "1" "94487251" "94487251" "subst" "2.85679E-5" "00004" "ABCA4_000490" "g.94487251G>T" "2/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG"
"0000684932" "0" "70" "1" "94490550" "94490550" "subst" "0.000105588" "00004" "ABCA4_000523" "g.94490550C>T" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "ACMG"
"0000684933" "0" "70" "1" "94490567" "94490567" "subst" "5.68528E-5" "00004" "ABCA4_000026" "g.94490567G>A" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "ACMG"
"0000684934" "0" "70" "1" "94490567" "94490567" "subst" "5.68528E-5" "00004" "ABCA4_000026" "g.94490567G>A" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "ACMG"
"0000684935" "0" "90" "1" "94495003" "94495003" "dup" "0" "00004" "ABCA4_000087" "g.94495003dup" "3/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG"
"0000684936" "0" "90" "1" "94495003" "94495003" "dup" "0" "00004" "ABCA4_000087" "g.94495003dup" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG"
"0000684937" "0" "90" "1" "94495083" "94495083" "subst" "0.000124542" "00004" "ABCA4_000542" "g.94495083G>A" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG"
"0000684938" "0" "90" "1" "94495083" "94495083" "subst" "0.000124542" "00004" "ABCA4_000542" "g.94495083G>A" "3/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG"
"0000684939" "0" "90" "1" "94496083" "94496083" "subst" "0" "00004" "ABCA4_001340" "g.94496083C>T" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG"
"0000684940" "0" "90" "1" "94496083" "94496083" "subst" "0" "00004" "ABCA4_001340" "g.94496083C>T" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG"
"0000684941" "0" "90" "1" "94496097" "94496097" "del" "0" "00004" "ABCA4_001020" "g.94496097del" "10/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "c.4254-15del23" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG"
"0000684942" "0" "90" "1" "94496666" "94496666" "subst" "0.000219568" "00004" "ABCA4_000019" "g.94496666G>A" "5/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG"
"0000684943" "0" "90" "1" "94496666" "94496666" "subst" "0.000219568" "00004" "ABCA4_000019" "g.94496666G>A" "6/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG"
"0000684944" "0" "90" "1" "94496666" "94496666" "subst" "0.000219568" "00004" "ABCA4_000019" "g.94496666G>A" "9/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG"
"0000684945" "0" "70" "1" "94502906" "94502906" "subst" "0.000314086" "00004" "ABCA4_000605" "g.94502906C>T" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "ACMG"
"0000684946" "0" "70" "1" "94506805" "94506805" "subst" "2.03051E-5" "00004" "ABCA4_001294" "g.94506805C>T" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "ACMG"
"0000684947" "0" "90" "1" "94506836" "94506838" "del" "0" "00004" "ABCA4_000615" "g.94506836_94506838del" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG"
"0000684948" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "00004" "ABCA4_000031" "g.94508323G>A" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG"
"0000684949" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "00004" "ABCA4_000031" "g.94508323G>A" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG"
"0000684950" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "00004" "ABCA4_000031" "g.94508323G>A" "2/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG"
"0000684951" "0" "70" "1" "94508969" "94508969" "subst" "0.00168642" "00004" "ABCA4_000021" "g.94508969G>A" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "ACMG"
"0000684952" "0" "70" "1" "94509026" "94509026" "subst" "4.06497E-5" "00004" "ABCA4_000660" "g.94509026G>A" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "ACMG"
"0000684953" "0" "90" "1" "94510164" "94510164" "subst" "1.62441E-5" "00004" "ABCA4_000144" "g.94510164C>T" "3/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG"
"0000684954" "0" "90" "1" "94510164" "94510164" "subst" "1.62441E-5" "00004" "ABCA4_000144" "g.94510164C>T" "3/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG"
"0000684955" "0" "90" "1" "94510164" "94510164" "subst" "1.62441E-5" "00004" "ABCA4_000144" "g.94510164C>T" "3/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG"
"0000684956" "0" "90" "1" "94512499" "94512499" "subst" "0.000130029" "00004" "ABCA4_000072" "g.94512499T>C" "2/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG"
"0000684957" "0" "90" "1" "94512499" "94512499" "subst" "0.000130029" "00004" "ABCA4_000072" "g.94512499T>C" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG"
"0000684958" "0" "70" "1" "94512565" "94512565" "subst" "0.030364" "00004" "ABCA4_000002" "g.94512565C>T" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "ACMG"
"0000684959" "0" "90" "1" "94512602" "94512602" "subst" "0.000369717" "00004" "ABCA4_000052" "g.94512602C>T" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG"
"0000684960" "0" "90" "1" "94512602" "94512602" "subst" "0.000369717" "00004" "ABCA4_000052" "g.94512602C>T" "2/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG"
"0000684961" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "00004" "ABCA4_000034" "g.94517254C>G" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "ACMG"
"0000684962" "0" "70" "1" "94522245" "94522245" "subst" "0" "00004" "ABCA4_000740" "g.94522245C>T" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "ACMG"
"0000684963" "0" "70" "1" "94526295" "94526295" "subst" "0" "00004" "ABCA4_001347" "g.94526295C>A" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "ACMG"
"0000684964" "0" "70" "1" "94528224" "94528224" "subst" "0" "00004" "ABCA4_000275" "g.94528224C>T" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "ACMG"
"0000684965" "0" "70" "1" "94528670" "94528670" "subst" "0" "00004" "ABCA4_001349" "g.94528670G>T" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "ACMG"
"0000684966" "0" "90" "1" "94528714" "94528714" "subst" "0" "00004" "ABCA4_000296" "g.94528714G>A" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG"
"0000684967" "0" "90" "1" "94528806" "94528806" "subst" "0.000150298" "00004" "ABCA4_000020" "g.94528806A>G" "3/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG"
"0000684968" "0" "90" "1" "94528806" "94528806" "subst" "0.000150298" "00004" "ABCA4_000020" "g.94528806A>G" "5/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG"
"0000684969" "0" "70" "1" "94543389" "94543389" "subst" "0.000861235" "00004" "ABCA4_000312" "g.94543389C>T" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "ACMG"
"0000684970" "0" "90" "1" "94544945" "94544945" "del" "0" "00004" "ABCA4_001021" "g.94544945del" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG"
"0000684971" "0" "90" "1" "94544945" "94544945" "del" "0" "00004" "ABCA4_001021" "g.94544945del" "3/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG"
"0000684972" "0" "90" "1" "94548932" "94548932" "del" "4.06587E-6" "00004" "ABCA4_001022" "g.94548932del" "2/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG"
"0000684973" "0" "90" "1" "94548932" "94548932" "del" "4.06587E-6" "00004" "ABCA4_001022" "g.94548932del" "3/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG"
"0000684974" "0" "90" "1" "94564484" "94564484" "subst" "0.000110199" "00004" "ABCA4_000036" "g.94564484G>A" "7/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG"
"0000684975" "0" "70" "1" "94568686" "94568686" "subst" "0.00258122" "00004" "ABCA4_000212" "g.94568686C>T" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "ACMG"
"0000684976" "0" "70" "1" "94568689" "94568689" "subst" "0" "00004" "ABCA4_001023" "g.94568689A>G" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "ACMG"
"0000684977" "0" "70" "1" "94577054" "94577054" "subst" "0" "00004" "ABCA4_001353" "g.94577054C>G" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "ACMG"
"0000685578" "1" "70" "1" "94546261" "94546261" "subst" "0.000648567" "00004" "ABCA4_000353" "g.94546261G>A" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "c.[1531C>T; 872C>T]" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "ACMG"
"0000685579" "1" "70" "1" "94476377" "94476377" "subst" "0.00160473" "00004" "ABCA4_000411" "g.94476377C>T" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "c.[1411G>A;5693G>A]" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "ACMG"
"0000685580" "1" "90" "1" "94471055" "94471055" "subst" "0.00035346" "00004" "ABCA4_000029" "g.94471055C>T" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "c.[1A>G;6089G>A]" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG"
"0000685852" "1" "90" "1" "94490550" "94490550" "subst" "0.000105588" "00006" "ABCA4_000523" "g.94490550C>T" "" "{PMID:Tucker 2011:21825139}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000686507" "21" "70" "1" "94508358" "94508358" "subst" "4.06167E-6" "03336" "ABCA4_000636" "g.94508358G>A" "" "" "" "" "" "Germline" "yes" "rs763267492" "" "" "" "" "" "pathogenic (recessive)" "other"
"0000686508" "11" "70" "1" "94528868" "94528868" "del" "0" "03336" "ABCA4_000304" "g.94528868del" "" "" "" "1561delG" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "other"
"0000686509" "21" "70" "1" "94508383" "94508383" "subst" "0" "03336" "ABCA4_001299" "g.94508383G>T" "" "" "" "" "" "Germline" "yes" "" "" "" "" "" "" "likely pathogenic (recessive)" "other"
"0000686510" "11" "70" "1" "94578589" "94578594" "del" "0" "03336" "ABCA4_000249" "g.94578589_94578594del" "" "" "" "101_106delCTTTAT" "" "Germline" "yes" "rs745925619" "0" "" "" "" "" "pathogenic (recessive)" "other"
"0000686511" "11" "90" "1" "94497396" "94497396" "subst" "0" "03336" "ABCA4_001291" "g.94497396G>A" "" "" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic (recessive)" "other"
"0000686512" "21" "70" "1" "94508383" "94508383" "subst" "0" "03336" "ABCA4_001299" "g.94508383G>T" "" "" "" "" "" "Germline" "yes" "" "" "" "" "" "" "likely pathogenic (recessive)" "other"
"0000686513" "11" "50" "1" "94476813" "94476813" "subst" "0" "03336" "ABCA4_000426" "g.94476813C>T" "" "" "" "" "" "Germline" "yes" "rs61750576" "" "" "" "" "" "pathogenic (recessive)" "other"
"0000686514" "21" "70" "1" "94546114" "94546114" "subst" "0" "03336" "ABCA4_000983" "g.94546114T>C" "" "" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic (recessive)" "other"
"0000686516" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "03336" "ABCA4_000046" "g.94473807C>T" "" "" "" "" "" "Germline" "yes" "rs1800553" "" "" "" "" "" "pathogenic (recessive)" "other"
"0000686517" "21" "50" "1" "94528311" "94528311" "subst" "0" "03336" "ABCA4_001138" "g.94528311T>C" "" "" "" "" "" "Germline" "yes" "rs754765164" "" "" "" "" "" "pathogenic (recessive)" "other"
"0000686519" "21" "70" "1" "94526219" "94526219" "subst" "4.06673E-6" "03336" "ABCA4_000759" "g.94526219C>A" "" "" "" "" "" "Germline" "yes" "rs61748530" "" "" "" "" "" "pathogenic (recessive)" "other"
"0000686520" "11" "70" "1" "94526190" "94526190" "dup" "0" "03336" "ABCA4_001308" "g.94526190dup" "" "" "" "2063_2064insA" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "other"
"0000686521" "21" "90" "1" "94512499" "94512499" "subst" "0.000130029" "03336" "ABCA4_000072" "g.94512499T>C" "" "" "" "" "" "Germline" "yes" "rs201471607" "" "" "" "" "" "pathogenic (recessive)" "other"
"0000686522" "11" "50" "1" "94509032" "94509032" "subst" "0" "03336" "ABCA4_001354" "g.94509032C>T" "" "" "" "" "" "Germline" "yes" "" "" "" "" "" "" "likely pathogenic (recessive)" "other"
"0000686523" "21" "90" "1" "94512499" "94512499" "subst" "0.000130029" "03336" "ABCA4_000072" "g.94512499T>C" "" "" "" "" "" "Germline" "yes" "rs201471607" "" "" "" "" "" "pathogenic (recessive)" "other"
"0000686524" "0" "70" "1" "94480232" "94480232" "subst" "0" "03336" "ABCA4_000444" "g.94480232G>A" "" "" "" "" "" "Germline" "?" "" "" "" "" "" "" "pathogenic (recessive)" "other"
"0000686525" "21" "90" "1" "94528668" "94528668" "subst" "0" "03336" "ABCA4_001313" "g.94528668C>T" "" "" "" "" "" "Germline" "yes" "" "" "" "" "" "" "likely pathogenic (recessive)" "other"
"0000686526" "11" "70" "1" "94574147" "94574147" "subst" "8.12236E-6" "03336" "ABCA4_000213" "g.94574147G>A" "" "" "" "" "" "Germline" "yes" "rs62646860" "" "" "" "" "" "likely pathogenic (recessive)" "other"
"0000686527" "21" "70" "1" "94528178" "94528178" "subst" "4.06666E-6" "03336" "ABCA4_001312" "g.94528178C>A" "" "" "" "" "" "Germline" "yes" "" "" "" "" "" "" "likely pathogenic (recessive)" "other"
"0000686528" "11" "70" "1" "94544888" "94544888" "subst" "0" "03336" "ABCA4_001317" "g.94544888A>G" "" "" "" "" "" "Germline" "yes" "" "" "" "" "" "" "likely pathogenic (recessive)" "other"
"0000686529" "11" "70" "1" "94508323" "94508323" "subst" "0.000125953" "03336" "ABCA4_000031" "g.94508323G>A" "" "" "" "" "" "Germline" "yes" "rs61750120" "" "" "" "" "" "pathogenic (recessive)" "other"
"0000686530" "21" "70" "1" "94510202" "94510202" "subst" "0" "03336" "ABCA4_001355" "g.94510202C>T" "" "" "" "" "" "Germline" "yes" "" "" "" "" "" "" "likely pathogenic (recessive)" "other"
"0000686531" "11" "70" "1" "94485167" "94485167" "subst" "0" "03336" "ABCA4_001356" "g.94485167A>G" "" "" "" "" "" "Germline" "yes" "" "" "" "" "" "" "likely pathogenic (recessive)" "other"
"0000686532" "21" "70" "1" "94578589" "94578594" "del" "0" "03336" "ABCA4_000249" "g.94578589_94578594del" "" "" "" "101_106delCTTTAT" "" "Germline" "yes" "rs745925619" "0" "" "" "" "" "pathogenic (recessive)" "other"
"0000687746" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01164" "ABCA4_000034" "g.94517254C>G" "" "Maugeri et al. 1999. Am J Hum Genet 64: 1024; Heathfield et al. 2013. Eur J Hum Genet 21: 1173; Biswas-Fiss et al. 2012. J Biol Chem 28: 44097-107; Wang et al. 2014. Hum Genet 133: 331; Zhang et al. 1999. Am J Ophthalmol 128: 720" "" "" "ACMG grading: PS3,PM3,PP1,PP3" "Germline" "" "rs76157638" "0" "" "" "" "" "likely pathogenic" "ACMG"
"0000687747" "0" "90" "1" "94564548" "94564548" "subst" "0" "01164" "ABCA4_000197" "g.94564548C>A" "" "Tanaka et al. 2018. Ophthalmology 125: 89" "" "" "ACMG grading: PVS1,PM2,PM3" "Germline" "" "rs61748533" "0" "" "" "" "" "pathogenic" "ACMG"
"0000688265" "0" "30" "1" "94463648" "94463648" "subst" "0.00109246" "01943" "ABCA4_000876" "g.94463648G>A" "" "" "" "ABCA4(NM_000350.2):c.6498C>T (p.I2166=), ABCA4(NM_000350.3):c.6498C>T (p.I2166=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000688266" "0" "50" "1" "94487410" "94487410" "subst" "2.84257E-5" "02327" "ABCA4_001357" "g.94487410C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000688267" "0" "10" "1" "94493853" "94493853" "subst" "0" "02327" "ABCA4_001358" "g.94493853C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000688268" "0" "50" "1" "94510248" "94510248" "subst" "0.000544123" "01943" "ABCA4_000107" "g.94510248C>G" "" "" "" "ABCA4(NM_000350.2):c.2971G>C (p.G991R), ABCA4(NM_000350.3):c.2971G>C (p.G991R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000688269" "0" "90" "1" "94526296" "94526296" "subst" "1.64555E-5" "02327" "ABCA4_000768" "g.94526296G>A" "" "" "" "ABCA4(NM_000350.2):c.1957C>T (p.R653C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000688270" "0" "50" "1" "94546234" "94546234" "subst" "0" "02327" "ABCA4_000351" "g.94546234G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000697202" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "03779" "ABCA4_000025" "g.94476951A>G" "" "" "" "" "" "CLASSIFICATION record" "" "rs1800728" "0" "" "" "" "" "pathogenic" ""
"0000703771" "1" "70" "1" "94517254" "94517254" "subst" "4.06478E-6" "00008" "ABCA4_000158" "g.94517254C>T" "" "{PMID:Scholl 2001:11372548}" "" "2588G>C (G863A)" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" ""
"0000703772" "2" "70" "1" "94496571" "94496571" "subst" "4.06174E-6" "00008" "ABCA4_000111" "g.94496571G>A" "" "{PMID:Scholl 2001:11372548}" "" "4234C>T (Q1412X)" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" ""
"0000703773" "1" "50" "1" "94476417" "94476417" "subst" "0" "00008" "ABCA4_000416" "g.94476417C>T" "" "{PMID:Scholl 2001:11372548}" "" "5653G>A (E1885 K)" "" "Germline" "yes" "" "0" "" "" "" "" "VUS" ""
"0000703774" "2" "50" "1" "94517254" "94517254" "subst" "4.06478E-6" "00008" "ABCA4_000158" "g.94517254C>T" "" "{PMID:Scholl 2001:11372548}" "" "2588G>C (G863A)" "" "Germline" "yes" "" "0" "" "" "" "" "VUS" ""
"0000704066" "0" "70" "1" "94586549" "94586549" "subst" "0" "03846" "ABCA4_001329" "g.94586549C>G" "" "Zixi Sun 2020, submitted" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "ACMG"
"0000704067" "0" "90" "1" "94520830" "94520830" "subst" "0" "03846" "ABCA4_000727" "g.94520830G>C" "" "Zixi Sun 2020,submitted" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG"
"0000704068" "0" "90" "1" "94548998" "94548998" "subst" "0" "03846" "ABCA4_001362" "g.94548998C>T" "" "Zixi Sun 2020, submitted" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG"
"0000704069" "0" "90" "1" "94528868" "94528868" "del" "0" "03846" "ABCA4_000304" "g.94528868del" "" "Zixi Sun 2020,submitted" "" "1561delG" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94063312del" "" "pathogenic (recessive)" "ACMG"
"0000704070" "0" "90" "1" "94520830" "94520830" "subst" "0" "03846" "ABCA4_000727" "g.94520830G>C" "" "Zixi Sun 2020, submitted" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG"
"0000704071" "0" "70" "1" "94512523" "94512523" "subst" "0" "03846" "ABCA4_001359" "g.94512523T>G" "" "Zixi Sun 2020, submitted" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "ACMG"
"0000704072" "11" "70" "1" "94578589" "94578594" "del" "0" "03846" "ABCA4_000249" "g.94578589_94578594del" "" "Zixi Sun 2020, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.94113033_94113038del" "" "likely pathogenic (recessive)" "ACMG"
"0000704073" "21" "90" "1" "94471026" "94471026" "subst" "1.21925E-5" "03846" "ABCA4_000791" "g.94471026G>A" "" "Zixi Sun 2020, submitted" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG"
"0000704074" "0" "90" "1" "94471026" "94471026" "subst" "1.21925E-5" "03846" "ABCA4_000791" "g.94471026G>A" "" "Zixi Sun 2020, submitted" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG"
"0000704075" "0" "50" "1" "94544885" "94544885" "subst" "0" "03846" "ABCA4_001361" "g.94544885A>G" "" "Zixi Sun 2020, submitted" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "VUS" "ACMG"
"0000704076" "0" "90" "1" "94471026" "94471026" "subst" "1.21925E-5" "03846" "ABCA4_000791" "g.94471026G>A" "" "Zixi Sun 2020, submitted" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG"
"0000704077" "0" "50" "1" "94544885" "94544885" "subst" "0" "03846" "ABCA4_001361" "g.94544885A>G" "" "Zixi Sun 2020, submitted" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "VUS" "ACMG"
"0000704191" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01807" "ABCA4_000046" "g.94473807C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000704213" "0" "90" "1" "94544957" "94544957" "subst" "0" "03846" "ABCA4_001363" "g.94544957C>T" "" "Zixi Sun 2020, submitted" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG"
"0000704214" "0" "90" "1" "94528251" "94528251" "subst" "2.84824E-5" "03846" "ABCA4_000281" "g.94528251C>T" "" "Zixi Sun 2020, submmited" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG"
"0000704215" "11" "90" "1" "94471056" "94471056" "subst" "2.84398E-5" "03846" "ABCA4_000050" "g.94471056G>A" "" "Zixi Sun 2020, submmitted" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG"
"0000704216" "21" "70" "1" "94508976" "94508976" "subst" "1.21906E-5" "03846" "ABCA4_000655" "g.94508976C>T" "" "Zixi Sun 2020, submmitted" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "ACMG"
"0000704217" "11" "90" "1" "94528868" "94528868" "del" "0" "03846" "ABCA4_000304" "g.94528868del" "" "Zixi Sun 2020, submitted" "" "1561delG" "" "Germline" "" "" "0" "" "" "g.94063312del" "" "pathogenic (recessive)" "ACMG"
"0000704218" "21" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "03846" "ABCA4_000117" "g.94528266G>A" "" "Zixi Sun 2020, submitted" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG"
"0000704219" "3" "90" "1" "94486866" "94486866" "subst" "0" "03846" "ABCA4_001364" "g.94486866C>A" "" "Zixi Sun 2020,submitted" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG"
"0000704221" "3" "90" "1" "94480241" "94480241" "subst" "7.71705E-5" "03846" "ABCA4_000446" "g.94480241G>A" "" "Zixi Sun 2020, submitted" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG"
"0000704223" "21" "90" "1" "94568636" "94568636" "subst" "0" "03846" "ABCA4_001365" "g.94568636T>A" "" "Zixi Sun 2020, submitted" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG"
"0000704224" "11" "90" "1" "94546248" "94546248" "del" "2.03666E-5" "03846" "ABCA4_000352" "g.94546248del" "" "Zixi Sun 2020, submitted" "" "885delC" "" "Germline" "" "" "0" "" "" "g.94080692del" "" "pathogenic (recessive)" "ACMG"
"0000704225" "3" "70" "1" "94578589" "94578594" "del" "0" "03846" "ABCA4_000249" "g.94578589_94578594del" "" "Zixi Sun 2020, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.94113033_94113038del" "" "likely pathogenic (recessive)" "ACMG"
"0000704227" "0" "90" "1" "94528311" "94528311" "subst" "0" "03846" "ABCA4_001138" "g.94528311T>C" "" "Zixi Sun 2020, submitted" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG"
"0000704228" "0" "90" "1" "94480098" "94480098" "subst" "4.06081E-6" "03846" "ABCA4_001366" "g.94480098C>G" "" "Zixi Sun 2020, submitted" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG"
"0000704229" "0" "90" "1" "94520717" "94520717" "subst" "0" "03846" "ABCA4_001367" "g.94520717T>A" "" "Zixi Sun 2020, submitted" "" "" "" "De novo" "" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG"
"0000704230" "21" "50" "1" "94487427" "94487427" "subst" "8.12176E-6" "03846" "ABCA4_001339" "g.94487427A>G" "" "Zixi Sun 2020, submitted" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "ACMG"
"0000704231" "0" "70" "1" "94520830" "94520830" "subst" "0" "03846" "ABCA4_000727" "g.94520830G>C" "" "Zixi Sun 2020, submitted" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG"
"0000704232" "0" "90" "1" "94467413" "94467413" "subst" "8.12612E-6" "03846" "ABCA4_000131" "g.94467413C>G" "" "Zixi Sun 2020, submitted" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG"
"0000704262" "11" "90" "1" "94528819" "94528819" "subst" "2.03128E-5" "03846" "ABCA4_000078" "g.94528819G>A" "" "Zixi Sun 2020, submitted" "" "" "This variant is in cis with the c.5881G>A variant and no variant on 2nd allele was identified." "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG"
"0000704263" "11" "90" "1" "94473808" "94473808" "subst" "8.52861E-5" "03846" "ABCA4_000196" "g.94473808C>T" "" "Zixi Sun 2020, submitted" "" "" "This variant is in cis with the c.1609C>T variant and no variant on 2nd allele was identified." "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG"
"0000704264" "21" "90" "1" "94544895" "94544895" "subst" "1.62455E-5" "03846" "ABCA4_000329" "g.94544895G>A" "" "Zixi Sun 2020, submitted" "" "" "no variant on 2nd allele identified" "Germline" "" "" "" "" "" "" "" "pathogenic" "ACMG"
"0000704265" "0" "90" "1" "94544895" "94544895" "subst" "1.62455E-5" "03846" "ABCA4_000329" "g.94544895G>A" "" "Zixi Sun 2020, submitted" "" "" "no variant on 2nd allele identified" "Germline/De novo (untested)" "" "" "" "" "" "" "" "pathogenic" "ACMG"
"0000704266" "0" "90" "1" "94463667" "94463667" "subst" "0" "03846" "ABCA4_001371" "g.94463667C>A" "" "Zixi Sun 2020, submitted" "" "" "no variant on 2nd allele identified" "Germline/De novo (untested)" "" "" "" "" "" "" "" "pathogenic" "ACMG"
"0000704267" "0" "70" "1" "94512485" "94512485" "subst" "0" "03846" "ABCA4_001370" "g.94512485T>C" "" "Zixi Sun 2020, submitted" "" "" "no variant on 2nd allele identified" "Germline/De novo (untested)" "" "" "" "" "" "" "" "likely pathogenic" "ACMG"
"0000704268" "0" "50" "1" "94505659" "94505659" "subst" "0.000942724" "03846" "ABCA4_000921" "g.94505659C>A" "" "Zixi Sun 2020, submitted" "" "" "no variant on 2nd allele identified" "Germline/De novo (untested)" "" "" "" "" "" "" "" "VUS" "ACMG"
"0000704269" "0" "50" "1" "94505659" "94505659" "subst" "0.000942724" "03846" "ABCA4_000921" "g.94505659C>A" "" "Zixi Sun 2020, submitted" "" "" "no variant on 2nd allele identified" "Germline/De novo (untested)" "" "" "" "" "" "" "" "VUS" "ACMG"
"0000704270" "0" "70" "1" "94471019" "94471019" "subst" "0" "03846" "ABCA4_001369" "g.94471019A>C" "" "Zixi Sun 2020, submitted" "" "" "no variant on 2nd allele identified" "Germline/De novo (untested)" "" "" "" "" "" "" "" "likely pathogenic" "ACMG"
"0000704271" "0" "50" "1" "94486819" "94486819" "subst" "0" "03846" "ABCA4_001368" "g.94486819C>A" "" "Zixi Sun 2020, submitted" "" "" "no variant on 2nd allele identified" "Germline/De novo (untested)" "" "" "" "" "" "" "" "VUS" "ACMG"
"0000704274" "11" "90" "1" "94512499" "94512499" "subst" "0.000130029" "03846" "ABCA4_000072" "g.94512499T>C" "" "Zixi Sun 2020, submitted" "" "" "no variant on 2nd allele identified" "Germline" "" "" "" "" "" "" "" "likely pathogenic" "ACMG"
"0000704275" "21" "90" "1" "94528868" "94528868" "del" "0" "03846" "ABCA4_000304" "g.94528868del" "" "" "" "1561delG" "no variant on 2nd allele identified" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG"
"0000704276" "0" "90" "1" "94476425" "94476425" "subst" "8.12282E-6" "03846" "ABCA4_000419" "g.94476425A>G" "" "Zixi Sun 2020, submitted" "" "" "no variant on 2nd allele identified" "Germline/De novo (untested)" "" "" "" "" "" "" "" "pathogenic" "ACMG"
"0000704277" "0" "70" "1" "94490534" "94490534" "subst" "0.000125895" "03846" "ABCA4_000520" "g.94490534G>A" "" "Zixi Sun 2020, submitted" "" "" "no variant on 2nd allele identified" "Germline/De novo (untested)" "" "" "" "" "" "" "" "likely pathogenic" "ACMG"
"0000704394" "3" "70" "1" "94508379" "94508379" "subst" "0" "03846" "ABCA4_000640" "g.94508379G>A" "" "Zixi Sun 2020, submitted" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "likely pathogenic" "ACMG"
"0000704395" "3" "90" "1" "94512499" "94512499" "subst" "0.000130029" "03846" "ABCA4_000072" "g.94512499T>C" "" "Zixi Sun 2020, submitted" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "pathogenic" "ACMG"
"0000704396" "0" "90" "1" "94574256" "94574256" "subst" "2.8425E-5" "03846" "ABCA4_000040" "g.94574256G>A" "" "Zixi Sun 2020, submitted" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "pathogenic" "ACMG"
"0000704397" "0" "90" "1" "94520830" "94520830" "subst" "0" "03846" "ABCA4_000727" "g.94520830G>C" "" "Zixi Sun 2020, submitted" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "pathogenic" "ACMG"
"0000704398" "0" "50" "1" "94544208" "94544208" "subst" "0.000158364" "03846" "ABCA4_000320" "g.94544208C>T" "" "Zixi Sun 2020, submitted" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "VUS" "ACMG"
"0000704400" "0" "50" "1" "94520781" "94520781" "subst" "8.53867E-5" "03846" "ABCA4_001377" "g.94520781C>T" "" "Zixi Sun 2020, submitted" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "VUS" "ACMG"
"0000704401" "3" "90" "1" "94473790" "94473790" "subst" "0" "03846" "ABCA4_000399" "g.94473790C>T" "" "Zixi Sun 2020, submitted" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "pathogenic" "ACMG"
"0000704402" "3" "90" "1" "94495153" "94495153" "del" "0" "03846" "ABCA4_001376" "g.94495153del" "" "Zixi Sun 2020, submitted" "" "4387delA" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic" "ACMG"
"0000704403" "0" "90" "1" "94485137" "94485137" "subst" "0" "03846" "ABCA4_000464" "g.94485137C>T" "" "Zixi Sun 2020, submitted" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "pathogenic" "ACMG"
"0000704404" "0" "70" "1" "94577118" "94577118" "subst" "0" "03846" "ABCA4_000185" "g.94577118C>T" "" "Zixi Sun 2020, submitted" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "likely pathogenic" "ACMG"
"0000704427" "0" "90" "1" "94544895" "94544895" "subst" "1.62455E-5" "03846" "ABCA4_000329" "g.94544895G>A" "" "Zixi Sun 2020, submitted" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "pathogenic" "ACMG"
"0000704428" "0" "70" "1" "94520870" "94520870" "subst" "0" "03846" "ABCA4_001375" "g.94520870C>A" "" "Zixi Sun 2020, submitted" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "likely pathogenic" "ACMG"
"0000704430" "0" "50" "1" "94526221" "94526223" "del" "0" "03846" "ABCA4_001374" "g.94526221_94526223del" "" "Zixi Sun 2020, submitted" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "VUS" "ACMG"
"0000704431" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "03846" "ABCA4_000117" "g.94528266G>A" "" "Zixi Sun 2020, submitted" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "pathogenic" "ACMG"
"0000704432" "0" "70" "1" "94512566" "94512566" "subst" "7.31149E-5" "03846" "ABCA4_000693" "g.94512566G>A" "" "Zixi Sun 2020, submitted" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "likely pathogenic" "ACMG"
"0000704433" "0" "50" "1" "94463648" "94463648" "subst" "0.000162447" "03846" "ABCA4_001373" "g.94463648G>C" "" "Zixi Sun 2020, submitted" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "VUS" "ACMG"
"0000704434" "0" "90" "1" "94528868" "94528868" "del" "0" "03846" "ABCA4_000304" "g.94528868del" "" "Zixi Sun 2020, submitted" "" "1561delG" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94063312del" "" "pathogenic" "ACMG"
"0000704435" "0" "90" "1" "94471139" "94471139" "subst" "0" "03846" "ABCA4_001372" "g.94471139C>T" "" "Zixi Sun 2020, submitted" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "pathogenic" "ACMG"
"0000704436" "11" "90" "1" "94528714" "94528714" "subst" "0" "03846" "ABCA4_000296" "g.94528714G>A" "" "Zixi Sun 2020, submitted" "" "" "" "Germline" "" "" "" "" "" "" "" "pathogenic" "ACMG"
"0000704437" "21" "90" "1" "94512499" "94512499" "subst" "0.000130029" "03846" "ABCA4_000072" "g.94512499T>C" "" "Zixi Sun 2020, submitted" "" "" "" "Germline" "" "" "" "" "" "" "" "pathogenic" "ACMG"
"0000704538" "0" "90" "1" "94546098" "94546098" "subst" "0" "03846" "ABCA4_000338" "g.94546098A>C" "" "Zixi Sun 2020, submitted" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "pathogenic" "ACMG"
"0000704539" "0" "90" "1" "94467413" "94467413" "subst" "8.12612E-6" "03846" "ABCA4_000131" "g.94467413C>G" "" "Zixi Sun 2020, submitted" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "pathogenic" "ACMG"
"0000704541" "3" "90" "1" "94528251" "94528251" "subst" "2.84824E-5" "03846" "ABCA4_000281" "g.94528251C>T" "" "Zixi Sun 2020, submitted" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "pathogenic" "ACMG"
"0000704542" "0" "90" "1" "94485137" "94485137" "subst" "0" "03846" "ABCA4_000464" "g.94485137C>T" "" "Zixi Sun 2020, submitted" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "pathogenic" "ACMG"
"0000704543" "0" "90" "1" "94461664" "94461664" "subst" "4.06841E-6" "03846" "ABCA4_000860" "g.94461664C>T" "" "Zixi Sun 2020, submitted" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "pathogenic" "ACMG"
"0000704544" "0" "70" "1" "94578619" "94578619" "subst" "2.85088E-5" "03846" "ABCA4_000253" "g.94578619G>A" "" "Zixi Sun 2020, submitted" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "likely pathogenic" "ACMG"
"0000704545" "0" "70" "1" "94471046" "94471046" "subst" "0" "03846" "ABCA4_000794" "g.94471046A>G" "" "Zixi Sun 2020, submitted" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "likely pathogenic" "ACMG"
"0000704555" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "03846" "ABCA4_000117" "g.94528266G>A" "" "Zixi Sun 2020, submitted" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "pathogenic" "ACMG"
"0000704556" "0" "70" "1" "94463583" "94463583" "subst" "8.12183E-6" "03846" "ABCA4_000806" "g.94463583A>G" "" "Zixi Sun 2020, submitted" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "likely pathogenic" "ACMG"
"0000704559" "21" "70" "1" "94510271" "94510271" "subst" "0" "03846" "ABCA4_000670" "g.94510271G>A" "" "Zixi Sun 2020, submitted" "" "" "" "Germline" "" "" "" "" "" "" "" "likely pathogenic" "ACMG"
"0000704560" "11" "90" "1" "94506923" "94506923" "subst" "2.43657E-5" "03846" "ABCA4_000012" "g.94506923C>T" "" "Zixi Sun 2020, submitted" "" "" "" "Germline" "" "" "" "" "" "" "" "pathogenic" "ACMG"
"0000704563" "0" "70" "1" "94510271" "94510271" "subst" "0" "03846" "ABCA4_000670" "g.94510271G>A" "" "Zixi Sun 2020, submitted" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "likely pathogenic" "ACMG"
"0000704564" "0" "70" "1" "94463583" "94463583" "subst" "8.12183E-6" "03846" "ABCA4_000806" "g.94463583A>G" "" "Zixi Sun 2020, submitted" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "likely pathogenic" "ACMG"
"0000704565" "0" "70" "1" "94510271" "94510271" "subst" "0" "03846" "ABCA4_000670" "g.94510271G>A" "" "Zixi Sun 2020, submitted" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "likely pathogenic" "ACMG"
"0000704566" "0" "70" "1" "94463583" "94463583" "subst" "8.12183E-6" "03846" "ABCA4_000806" "g.94463583A>G" "" "Zixi Sun 2020, submitted" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "likely pathogenic" "ACMG"
"0000704568" "21" "90" "1" "94490538" "94490539" "ins" "0" "03846" "ABCA4_000521" "g.94490538_94490539insA" "" "Zixi Sun 2020, submitted" "" "" "" "Germline" "" "" "" "" "" "" "" "pathogenic" "ACMG"
"0000704569" "11" "70" "1" "94466655" "94466655" "subst" "0" "03846" "ABCA4_000842" "g.94466655G>A" "" "Zixi Sun 2020, submitted" "" "" "" "Germline" "" "" "" "" "" "" "" "likely pathogenic" "ACMG"
"0000704571" "3" "90" "1" "94490538" "94490539" "ins" "0" "03846" "ABCA4_000521" "g.94490538_94490539insA" "" "Zixi Sun 2020, submitted" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "pathogenic" "ACMG"
"0000704572" "0" "90" "1" "94546248" "94546248" "del" "2.03666E-5" "03846" "ABCA4_000352" "g.94546248del" "" "Zixi Sun 2020, submitted" "" "885delC" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94080692del" "" "pathogenic" "ACMG"
"0000704573" "0" "70" "1" "94463583" "94463583" "subst" "8.12183E-6" "03846" "ABCA4_000806" "g.94463583A>G" "" "Zixi Sun 2020, submitted" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "likely pathogenic" "ACMG"
"0000704575" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "03846" "ABCA4_000117" "g.94528266G>A" "" "Zixi Sun 2020, submitted" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "pathogenic" "ACMG"
"0000706964" "0" "90" "1" "94526295" "94526295" "subst" "3.69731E-5" "03846" "ABCA4_000114" "g.94526295C>T" "" "Zixi Sun 2020, submitted" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "pathogenic" "ACMG"
"0000706965" "0" "90" "1" "94502702" "94502702" "del" "0" "03846" "ABCA4_000596" "g.94502702del" "" "Zixi Sun 2020, submitted" "" "3812delA" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94037146del" "" "pathogenic" "ACMG"
"0000706966" "0" "70" "1" "94461664" "94461664" "subst" "4.06841E-6" "03846" "ABCA4_000860" "g.94461664C>T" "" "Zixi Sun 2020, submitted" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "likely pathogenic" "ACMG"
"0000708317" "3" "90" "1" "94528868" "94528868" "del" "0" "03846" "ABCA4_000304" "g.94528868del" "" "Zixi Sun 2020, submitted" "" "1561delG" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94063312del" "" "pathogenic" "ACMG"
"0000708318" "21" "90" "1" "94497591" "94497591" "subst" "0" "03846" "ABCA4_000587" "g.94497591G>A" "" "Zixi Sun 2020, submitted" "" "" "" "Germline" "" "" "" "" "" "" "" "pathogenic" "ACMG"
"0000708319" "11" "90" "1" "94508892" "94508892" "subst" "0" "03846" "ABCA4_001378" "g.94508892C>G" "" "Zixi Sun 2020, submitted" "" "" "" "Germline" "" "" "" "" "" "" "" "pathogenic" "ACMG"
"0000708320" "0" "90" "1" "94467413" "94467413" "subst" "8.12612E-6" "03846" "ABCA4_000131" "g.94467413C>G" "" "Zixi Sun 2020, submitted" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "pathogenic" "ACMG"
"0000708321" "0" "90" "1" "94508892" "94508892" "subst" "0" "03846" "ABCA4_001378" "g.94508892C>G" "" "Zixi Sun 2020, submitted" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "pathogenic" "ACMG"
"0000708322" "0" "90" "1" "94520830" "94520830" "subst" "0" "03846" "ABCA4_000727" "g.94520830G>C" "" "Zixi Sun 2020, submitted" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "pathogenic" "ACMG"
"0000708323" "0" "90" "1" "94508947" "94508948" "ins" "0" "03846" "ABCA4_001379" "g.94508947_94508948insT" "" "Zixi Sun 2020, submitted" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "pathogenic" "ACMG"
"0000708324" "0" "90" "1" "94471056" "94471056" "subst" "2.84398E-5" "03846" "ABCA4_000050" "g.94471056G>A" "" "Zixi Sun 2020, submitted" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "pathogenic" "ACMG"
"0000708325" "0" "90" "1" "94528668" "94528668" "subst" "0" "03846" "ABCA4_001313" "g.94528668C>T" "" "Zixi Sun 2020, submitted" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "likely pathogenic" "ACMG"
"0000708326" "0" "70" "1" "94578589" "94578594" "del" "0" "03846" "ABCA4_000249" "g.94578589_94578594del" "" "Zixi Sun 2020, submitted" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94113033_94113038del" "" "likely pathogenic" "ACMG"
"0000708327" "0" "90" "1" "94526296" "94526296" "subst" "1.64555E-5" "03846" "ABCA4_000768" "g.94526296G>A" "" "Zixi Sun 2020, submitted" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "pathogenic" "ACMG"
"0000708328" "0" "90" "1" "94467515" "94467518" "del" "0" "03846" "ABCA4_001380" "g.94467515_94467518del" "" "Zixi Sun 2020, submitted" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94001959_94001962del" "" "pathogenic" "ACMG"
"0000708329" "0" "70" "1" "94463583" "94463583" "subst" "8.12183E-6" "03846" "ABCA4_000806" "g.94463583A>G" "" "Zixi Sun 2020, submitted" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "likely pathogenic" "ACMG"
"0000708330" "0" "90" "1" "94544184" "94544184" "del" "0" "03846" "ABCA4_001381" "g.94544184del" "" "Zixi Sun 2020, submitted" "" "1318delT" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94078628del" "" "pathogenic" "ACMG"
"0000708331" "0" "90" "1" "94509026" "94509026" "subst" "4.06497E-5" "03846" "ABCA4_000660" "g.94509026G>A" "" "Zixi Sun 2020, submitted" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "pathogenic" "ACMG"
"0000708332" "0" "70" "1" "94508451" "94508451" "subst" "0" "03846" "ABCA4_000648" "g.94508451C>A" "" "Zixi Sun 2020, subnitted" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "likely pathogenic" "ACMG"
"0000708333" "0" "70" "1" "94466482" "94466482" "subst" "0" "03846" "ABCA4_000829" "g.94466482A>T" "" "Zixi Sun 2020, submitted" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "likely pathogenic" "ACMG"
"0000708334" "3" "70" "1" "94522257" "94522257" "subst" "0" "03846" "ABCA4_001382" "g.94522257G>A" "" "Zixi Sun 2020, submitted" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "likely pathogenic" "ACMG"
"0000708335" "0" "90" "1" "94474366" "94474366" "subst" "0" "03846" "ABCA4_000408" "g.94474366G>A" "" "Zixi Sun 2020, submitted" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "pathogenic" "ACMG"
"0000708336" "0" "70" "1" "94471025" "94471025" "subst" "0.00031698" "03846" "ABCA4_000096" "g.94471025C>T" "" "Zixi Sun 2020, submitted" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "likely pathogenic" "ACMG"
"0000708902" "0" "50" "1" "94520781" "94520781" "subst" "8.53867E-5" "03957" "ABCA4_001377" "g.94520781C>T" "" "" "" "" "" "Unknown" "" "" "" "" "" "" "" "VUS" "ACMG"
"0000708903" "0" "50" "1" "94564445" "94564445" "subst" "0.000203219" "03957" "ABCA4_001127" "g.94564445C>T" "" "" "" "" "" "Unknown" "" "" "" "" "" "" "" "VUS" "ACMG"
"0000708904" "11" "90" "1" "94512499" "94512499" "subst" "0.000130029" "03957" "ABCA4_000072" "g.94512499T>C" "" "PMID:Molday 2018:29145636" "" "" "" "Unknown" "yes" "" "" "" "" "" "" "pathogenic (recessive)" "ACMG"
"0000708905" "21" "90" "1" "94526194" "94526194" "dup" "0" "03957" "ABCA4_001308" "g.94526194dup" "" "" "" "2063dupA" "" "Unknown" "" "" "0" "" "" "g.94060638dup" "" "pathogenic (recessive)" "ACMG"
"0000708906" "0" "90" "1" "94512499" "94512499" "subst" "0.000130029" "03957" "ABCA4_000072" "g.94512499T>C" "" "" "" "" "" "Unknown" "" "" "" "" "" "" "" "pathogenic (recessive)" "ACMG"
"0000708907" "0" "90" "1" "94544213" "94544213" "dup" "0" "03957" "ABCA4_001383" "g.94544213dup" "" "" "" "1290dupC" "" "Unknown" "" "" "0" "" "" "g.94078657dup" "" "pathogenic (recessive)" "ACMG"
"0000708908" "11" "50" "1" "94487427" "94487427" "subst" "8.12176E-6" "03957" "ABCA4_001339" "g.94487427A>G" "" "" "" "" "" "Unknown" "" "" "" "" "" "" "" "VUS" "ACMG"
"0000708909" "21" "90" "1" "94510253" "94510253" "dup" "0" "03957" "ABCA4_001384" "g.94510253dup" "" "" "" "2967dupT" "" "Unknown" "" "" "0" "" "" "g.94044697dup" "" "pathogenic (recessive)" "ACMG"
"0000708926" "0" "70" "1" "94476890" "94476890" "subst" "0" "03957" "ABCA4_001386" "g.94476890G>A" "" "" "" "" "" "Unknown" "" "" "" "" "" "" "" "likely pathogenic (recessive)" "ACMG"
"0000708927" "0" "90" "1" "94528311" "94528311" "subst" "0" "03957" "ABCA4_001138" "g.94528311T>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG"
"0000708928" "0" "90" "1" "94577125" "94577126" "ins" "0" "03957" "ABCA4_001393" "g.94577125_94577126insTT" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG"
"0000708929" "0" "50" "1" "94577126" "94577126" "subst" "0" "03957" "ABCA4_001394" "g.94577126G>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "ACMG"
"0000708930" "0" "90" "1" "94546127" "94546127" "del" "0" "03957" "ABCA4_001391" "g.94546127del" "" "" "" "1006delT" "" "Unknown" "" "" "0" "" "" "g.94080571del" "" "pathogenic (recessive)" "ACMG"
"0000708932" "0" "70" "1" "94564500" "94564517" "dup" "0" "03957" "ABCA4_001395" "g.94564500_94564517dup" "" "" "" "618_619insAAGGACATCGCCTGCAGC" "" "Unknown" "" "" "0" "" "" "g.94098944_94098961dup" "" "likely pathogenic (recessive)" "ACMG"
"0000708933" "0" "90" "1" "94512499" "94512499" "subst" "0.000130029" "03957" "ABCA4_000072" "g.94512499T>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG"
"0000708934" "0" "70" "1" "94546099" "94546099" "subst" "0" "03957" "ABCA4_001389" "g.94546099T>C" "" "" "" "" "" "Unknown" "" "" "" "" "" "" "" "likely pathogenic (recessive)" "ACMG"
"0000708935" "11" "90" "1" "94546098" "94546098" "subst" "0" "03957" "ABCA4_000338" "g.94546098A>C" "" "" "" "" "" "Unknown" "yes" "" "" "" "" "" "" "pathogenic (recessive)" "ACMG"
"0000708936" "21" "70" "1" "94546099" "94546099" "subst" "0" "03957" "ABCA4_001390" "g.94546099T>G" "" "" "" "" "" "Unknown" "yes" "" "" "" "" "" "" "likely pathogenic (recessive)" "ACMG"
"0000708937" "11" "90" "1" "94546098" "94546098" "subst" "0" "03957" "ABCA4_000338" "g.94546098A>C" "" "" "" "" "" "Unknown" "yes" "" "" "" "" "" "" "pathogenic (recessive)" "ACMG"
"0000708938" "21" "70" "1" "94546099" "94546099" "subst" "0" "03957" "ABCA4_001390" "g.94546099T>G" "" "" "" "" "" "Unknown" "yes" "" "" "" "" "" "" "likely pathogenic (recessive)" "ACMG"
"0000708940" "11" "90" "1" "94471026" "94471026" "subst" "1.21925E-5" "03957" "ABCA4_000791" "g.94471026G>A" "" "" "" "" "" "Unknown" "" "" "" "" "" "" "" "pathogenic (recessive)" "ACMG"
"0000708941" "21" "90" "1" "94578589" "94578594" "del" "0" "03957" "ABCA4_000249" "g.94578589_94578594del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.94113033_94113038del" "" "pathogenic (recessive)" "ACMG"
"0000708942" "11" "90" "1" "94496605" "94496605" "del" "0" "03957" "ABCA4_001396" "g.94496605del" "" "" "" "4203delC" "" "Unknown" "yes" "" "0" "" "" "g.94031049del" "" "pathogenic (recessive)" "ACMG"
"0000708943" "21" "70" "1" "94577093" "94577093" "subst" "8.12394E-6" "03957" "ABCA4_000147" "g.94577093G>A" "" "" "" "" "" "Unknown" "yes" "" "" "" "" "" "" "likely pathogenic (recessive)" "ACMG"
"0000708944" "11" "90" "1" "94528868" "94528868" "del" "0" "03957" "ABCA4_000304" "g.94528868del" "" "" "" "1561delG" "" "Unknown" "yes" "" "0" "" "" "g.94063312del" "" "pathogenic (recessive)" "ACMG"
"0000708945" "21" "70" "1" "94528668" "94528668" "subst" "0" "03957" "ABCA4_001313" "g.94528668C>T" "" "" "" "" "" "Unknown" "yes" "" "" "" "" "" "" "likely pathogenic (recessive)" "ACMG"
"0000708946" "11" "70" "1" "94474381" "94474381" "subst" "0" "03957" "ABCA4_001385" "g.94474381C>A" "" "" "" "" "" "Unknown" "" "" "" "" "" "" "" "likely pathogenic (recessive)" "ACMG"
"0000708947" "11" "50" "1" "94476477" "94476477" "subst" "0.000125969" "03957" "ABCA4_001099" "g.94476477G>A" "" "" "" "" "" "Unknown" "" "" "" "" "" "" "" "VUS" "ACMG"
"0000708948" "20" "90" "1" "94480241" "94480241" "subst" "7.71705E-5" "03957" "ABCA4_000446" "g.94480241G>A" "" "" "" "" "" "Unknown" "" "" "" "" "" "" "" "pathogenic (recessive)" "ACMG"
"0000708949" "20" "70" "1" "94508976" "94508976" "subst" "1.21906E-5" "03957" "ABCA4_000655" "g.94508976C>T" "" "" "" "" "" "Unknown" "" "" "" "" "" "" "" "likely pathogenic" "ACMG"
"0000708950" "3" "70" "1" "94497392" "94497392" "subst" "0" "03957" "ABCA4_000577" "g.94497392G>A" "" "" "" "" "" "Unknown" "" "" "" "" "" "" "" "likely pathogenic (recessive)" "ACMG"
"0000710010" "0" "70" "1" "94508323" "94508323" "subst" "0.000125953" "03957" "ABCA4_000031" "g.94508323G>A" "" "" "" "" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic" "ACMG"
"0000710011" "0" "70" "1" "94528780" "94528780" "subst" "4.06171E-6" "03957" "ABCA4_000299" "g.94528780C>T" "" "" "" "" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" "ACMG"
"0000710014" "11" "90" "1" "94512499" "94512499" "subst" "0.000130029" "03957" "ABCA4_000072" "g.94512499T>C" "" "" "" "" "" "Unknown" "yes" "" "" "" "" "" "" "pathogenic (recessive)" "ACMG"
"0000710015" "21" "70" "1" "94508976" "94508976" "subst" "1.21906E-5" "03957" "ABCA4_000655" "g.94508976C>T" "" "" "" "" "" "Unknown" "yes" "" "" "" "" "" "" "likely pathogenic (recessive)" "ACMG"
"0000710163" "21" "50" "1" "94546150" "94546150" "subst" "4.06828E-6" "03957" "ABCA4_000346" "g.94546150T>A" "" "" "Qing Zhu" "" "" "Unknown" "yes" "" "0" "" "" "" "" "VUS" "ACMG"
"0000710224" "1" "90" "1" "94467475" "94467475" "subst" "3.65542E-5" "00006" "ABCA4_000171" "g.94467475C>A" "1/143 cases" "{PMID:Zenteno 2020:31736247}" "" "" "" "Germline" "" "" "0" "" "" "g.94001919C>A" "" "pathogenic" ""
"0000710260" "2" "70" "1" "94506904" "94506904" "subst" "0" "00006" "ABCA4_001176" "g.94506904T>C" "1/143 cases" "{PMID:Zenteno 2020:31736247}" "" "" "ACMG PM2, PM3, PP3, PP4" "Germline" "" "" "0" "" "" "g.94041348T>C" "" "likely pathogenic" "ACMG"
"0000710273" "3" "90" "1" "94467548" "94467548" "subst" "0.00295661" "00006" "ABCA4_000788" "g.94467548C>G" "1/143 cases" "{PMID:Zenteno 2020:31736247}" "" "" "" "Germline" "" "" "0" "" "" "g.94001992C>G" "" "pathogenic" ""
"0000710278" "2" "90" "1" "94474323" "94474323" "subst" "2.03034E-5" "00006" "ABCA4_000156" "g.94474323A>G" "1/143 cases" "{PMID:Zenteno 2020:31736247}" "" "" "" "Germline" "" "" "0" "" "" "g.94008767A>G" "" "pathogenic" ""
"0000710282" "2" "90" "1" "94467475" "94467475" "subst" "3.65542E-5" "00006" "ABCA4_000171" "g.94467475C>A" "1/143 cases" "{PMID:Zenteno 2020:31736247}" "" "" "" "Germline" "" "" "0" "" "" "g.94001919C>A" "" "pathogenic" ""
"0000710288" "3" "90" "1" "94486895" "94486895" "subst" "3.24923E-5" "00006" "ABCA4_000484" "g.94486895C>T" "1/143 cases" "{PMID:Zenteno 2020:31736247}" "" "" "" "Germline" "" "" "0" "" "" "g.94021339C>T" "" "pathogenic" ""
"0000710292" "1" "90" "1" "94486895" "94486895" "subst" "3.24923E-5" "00006" "ABCA4_000484" "g.94486895C>T" "1/143 cases" "{PMID:Zenteno 2020:31736247}" "" "" "" "Germline" "" "" "0" "" "" "g.94021339C>T" "" "pathogenic" ""
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"0000713847" "0" "70" "1" "94510248" "94510248" "subst" "0.000544123" "00000" "ABCA4_000107" "g.94510248C>G" "" "{PMID:Carss 2017:28041643}" "" "1:94510248C>G ENST00000370225.3:c.2971G>C (Gly991Arg)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000713850" "0" "90" "1" "94544167" "94544167" "subst" "8.12269E-6" "00000" "ABCA4_000316" "g.94544167G>C" "" "{PMID:Carss 2017:28041643}" "" "1:94544167G>C ENST00000370225.3:c.1335C>G (Ser445Arg)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000713854" "2" "90" "1" "94476951" "94476951" "subst" "0.000236097" "00000" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Carss 2017:28041643}" "" "1:94476951A>G ENST00000370225.3:c.5461-10T>C" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000713856" "0" "70" "1" "94495177" "94495177" "subst" "1.22342E-5" "00000" "ABCA4_000023" "g.94495177A>G" "" "{PMID:Carss 2017:28041643}" "" "1:94495177A>G ENST00000370225.3:c.4363T>C (Cys1455Arg)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000713857" "0" "70" "1" "94568675" "94568675" "subst" "0.00146249" "00000" "ABCA4_000210" "g.94568675T>C" "" "{PMID:Carss 2017:28041643}" "" "1:94568675T>C ENST00000370225.3:c.466A>G (Ile156Val)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000713860" "0" "90" "1" "94526230" "94526230" "subst" "7.32136E-5" "00000" "ABCA4_000760" "g.94526230C>T" "" "{PMID:Carss 2017:28041643}" "" "1:94526230C>T ENST00000370225.3:c.2023G>A (Val675Ile)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000713861" "0" "70" "1" "94508969" "94508969" "subst" "0.00168642" "00000" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Carss 2017:28041643}" "" "1:94508969G>A ENST00000370225.3:c.3113C>T (Ala1038Val)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000713862" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "00000" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Carss 2017:28041643}" "" "1:94528806A>G ENST00000370225.3:c.1622T>C (Leu541Pro)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000713864" "0" "90" "1" "94528871" "94528871" "subst" "0" "00000" "ABCA4_001410" "g.94528871G>T" "" "{PMID:Carss 2017:28041643}" "" "1:94528871G>T ENST00000370225.3:c.1557C>A (Cys519Ter)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000713866" "0" "90" "1" "94528251" "94528251" "subst" "2.84824E-5" "00000" "ABCA4_000281" "g.94528251C>T" "" "{PMID:Carss 2017:28041643}" "" "1:94528251C>T ENST00000370225.3:c.1819G>A (Gly607Arg)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000713867" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "00000" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Carss 2017:28041643}" "" "1:94508969G>A ENST00000370225.3:c.3113C>T (Ala1038Val)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000713872" "0" "90" "1" "94528819" "94528819" "subst" "2.03128E-5" "00000" "ABCA4_000078" "g.94528819G>A" "" "{PMID:Carss 2017:28041643}" "" "1:94528819G>A ENST00000370225.3:c.1609C>T (Arg537Cys)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000713873" "0" "90" "1" "94546207" "94546207" "subst" "0.000101665" "00000" "ABCA4_000083" "g.94546207G>C" "" "{PMID:Carss 2017:28041643}" "" "1:94546207G>C ENST00000370225.3:c.926C>G (Pro309Arg)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000713874" "0" "90" "1" "94471056" "94471056" "subst" "2.84398E-5" "00000" "ABCA4_000050" "g.94471056G>A" "" "{PMID:Carss 2017:28041643}" "" "1:94471056G>A ENST00000370225.3:c.6088C>T (Arg2030Ter)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000713883" "0" "90" "1" "94543268" "94543268" "subst" "0.000778106" "00000" "ABCA4_000306" "g.94543268C>T" "" "{PMID:Carss 2017:28041643}" "" "1:94543268C>T ENST00000370225.3:c.1532G>A (Arg511His)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000713907" "0" "90" "1" "94564460" "94564460" "subst" "8.1355E-6" "00000" "ABCA4_000056" "g.94564460G>A" "" "{PMID:Carss 2017:28041643}" "" "1:94564460G>A ENST00000370225.3:c.658C>T (Arg220Cys)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000714027" "2" "70" "1" "94544249" "94544249" "subst" "8.12196E-6" "00000" "ABCA4_000323" "g.94544249A>G" "" "{PMID:Taylor 2017:28341476}" "" "" "" "Germline" "" "" "0" "" "" "g.94078693A>G" "" "likely pathogenic (recessive)" ""
"0000714028" "2" "70" "1" "94490556" "94490556" "subst" "0" "00000" "ABCA4_001401" "g.94490556T>A" "" "{PMID:Taylor 2017:28341476}" "" "" "" "Germline" "" "" "0" "" "" "g.94025000T>A" "" "likely pathogenic (recessive)" ""
"0000714034" "2" "70" "1" "94520816" "94520816" "subst" "0" "00000" "ABCA4_001407" "g.94520816T>G" "" "{PMID:Taylor 2017:28341476}" "" "" "" "Germline" "" "" "0" "" "" "g.94055260T>G" "" "likely pathogenic (recessive)" ""
"0000714035" "3" "70" "1" "94476951" "94476951" "subst" "0.000236097" "00000" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Taylor 2017:28341476}" "" "" "" "Germline" "" "" "0" "" "" "g.94011395A>G" "" "likely pathogenic (recessive)" ""
"0000714036" "3" "70" "1" "94473278" "94473278" "del" "3.25908E-5" "00000" "ABCA4_000392" "g.94473278del" "" "{PMID:Taylor 2017:28341476}" "" "5917delG" "" "Germline" "" "" "0" "" "" "g.94007722del" "" "likely pathogenic (recessive)" ""
"0000714037" "3" "70" "1" "94463488" "94463488" "subst" "5.2803E-5" "00000" "ABCA4_000802" "g.94463488G>A" "" "{PMID:Taylor 2017:28341476}" "" "" "" "Germline" "" "" "0" "" "" "g.93997932G>A" "" "likely pathogenic (recessive)" ""
"0000714038" "2" "70" "1" "94526194" "94526194" "dup" "0" "00000" "ABCA4_001308" "g.94526194dup" "" "{PMID:Taylor 2017:28341476}" "" "2063dupA" "" "Germline" "" "" "0" "" "" "g.94060638dup" "" "likely pathogenic (recessive)" ""
"0000714058" "3" "70" "1" "94473278" "94473278" "del" "3.25908E-5" "00000" "ABCA4_000392" "g.94473278del" "" "{PMID:Taylor 2017:28341476}" "" "5917delG" "" "Germline" "" "" "0" "" "" "g.94007722del" "" "likely pathogenic (recessive)" ""
"0000714085" "0" "50" "1" "94496039" "94496039" "subst" "0.00157963" "00000" "ABCA4_000552" "g.94496039C>T" "" "{PMID:Taylor 2017:28341476}" "" "" "" "Germline" "" "" "0" "" "" "g.94030483C>T" "" "VUS" ""
"0000714086" "0" "50" "1" "94476351" "94476351" "subst" "0.000296608" "00000" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Taylor 2017:28341476}" "" "" "" "Germline" "" "" "0" "" "" "g.94010795C>T" "" "VUS" ""
"0000714087" "0" "50" "1" "94467548" "94467548" "subst" "0.00295661" "00000" "ABCA4_000788" "g.94467548C>G" "" "{PMID:Taylor 2017:28341476}" "" "" "" "Germline" "" "" "0" "" "" "g.94001992C>G" "" "VUS" ""
"0000714088" "0" "50" "1" "94514466" "94514466" "subst" "0.00192081" "00000" "ABCA4_000008" "g.94514466T>C" "" "{PMID:Taylor 2017:28341476}" "" "" "" "Germline" "" "" "0" "" "" "g.94048910T>C" "" "VUS" ""
"0000714089" "0" "50" "1" "94496666" "94496666" "subst" "0.000219568" "00000" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Taylor 2017:28341476}" "" "" "" "Germline" "" "" "0" "" "" "g.94031110G>A" "" "VUS" ""
"0000714094" "1" "70" "1" "94487401" "94487401" "subst" "0" "00000" "ABCA4_000495" "g.94487401C>A" "" "{PMID:Taylor 2017:28341476}" "" "" "" "Germline" "" "" "0" "" "" "g.94021845C>A" "" "likely pathogenic (recessive)" ""
"0000714095" "1" "70" "1" "94463437" "94463437" "dup" "0" "00000" "ABCA4_000797" "g.94463437dup" "" "{PMID:Taylor 2017:28341476}" "" "6709dupA" "" "Germline" "" "" "0" "" "" "g.93997881dup" "" "likely pathogenic (recessive)" ""
"0000714096" "1" "70" "1" "94517254" "94517254" "subst" "0.00442654" "00000" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Taylor 2017:28341476}" "" "" "" "Germline" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000714097" "1" "70" "1" "94474381" "94474381" "subst" "1.21849E-5" "00000" "ABCA4_000410" "g.94474381C>T" "" "{PMID:Taylor 2017:28341476}" "" "" "" "Germline" "" "" "0" "" "" "g.94008825C>T" "" "likely pathogenic (recessive)" ""
"0000717735" "0" "90" "1" "94466556" "94466556" "subst" "4.06164E-6" "01943" "ABCA4_000831" "g.94466556G>C" "" "" "" "ABCA4(NM_000350.2):c.6386+2C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000717736" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "02329" "ABCA4_000025" "g.94476951A>G" "" "" "" "ABCA4(NM_000350.2):c.5461-10T>C, ABCA4(NM_000350.3):c.5461-10T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000717737" "0" "50" "1" "94485275" "94485275" "subst" "4.09068E-5" "02330" "ABCA4_001089" "g.94485275T>A" "" "" "" "ABCA4(NM_000350.3):c.5059A>T (p.I1687F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000717738" "0" "50" "1" "94485279" "94485293" "del" "0" "01943" "ABCA4_000476" "g.94485279_94485293del" "" "" "" "ABCA4(NM_000350.2):c.5044_5058delGTTGCCATCTGCGTG (p.V1682_V1686del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000717739" "0" "50" "1" "94486888" "94486888" "subst" "3.65548E-5" "01943" "ABCA4_000137" "g.94486888G>C" "" "" "" "ABCA4(NM_000350.2):c.4926C>G (p.S1642R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000717740" "0" "90" "1" "94495071" "94495071" "subst" "6.39479E-5" "02329" "ABCA4_000997" "g.94495071C>T" "" "" "" "ABCA4(NM_000350.2):c.4469G>A (p.C1490Y), ABCA4(NM_000350.3):c.4469G>A (p.C1490Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000717741" "0" "30" "1" "94495096" "94495096" "subst" "4.09987E-6" "01943" "ABCA4_001424" "g.94495096C>T" "" "" "" "ABCA4(NM_000350.2):c.4444G>A (p.V1482I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000717742" "0" "70" "1" "94496010" "94496010" "subst" "1.62434E-5" "02327" "ABCA4_000549" "g.94496010G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0000717743" "0" "50" "1" "94497500" "94497500" "subst" "5.28838E-5" "02330" "ABCA4_000967" "g.94497500G>A" "" "" "" "ABCA4(NM_000350.3):c.3962C>T (p.S1321F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000717744" "0" "50" "1" "94502888" "94502888" "subst" "0.00310941" "02329" "ABCA4_000603" "g.94502888A>G" "" "" "" "ABCA4(NM_000350.2):c.3626T>C (p.M1209T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000717745" "0" "90" "1" "94505622" "94505623" "ins" "0" "02327" "ABCA4_001425" "g.94505622_94505623insAC" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000717746" "0" "50" "1" "94510253" "94510253" "subst" "0.000247694" "01943" "ABCA4_000108" "g.94510253A>G" "" "" "" "ABCA4(NM_000350.2):c.2966T>C (p.V989A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000717747" "0" "90" "1" "94522267" "94522271" "del" "0" "02327" "ABCA4_001430" "g.94522267_94522271del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000717748" "0" "50" "1" "94526097" "94526097" "subst" "0" "01943" "ABCA4_001432" "g.94526097A>G" "" "" "" "ABCA4(NM_000350.2):c.2156T>C (p.I719T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000717749" "0" "30" "1" "94528138" "94528138" "subst" "0.000833801" "01943" "ABCA4_000932" "g.94528138G>A" "" "" "" "ABCA4(NM_000350.2):c.1932C>T (p.D644=), ABCA4(NM_000350.3):c.1932C>T (p.D644=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000717750" "0" "70" "1" "94543269" "94543269" "subst" "0.000179087" "01943" "ABCA4_000307" "g.94543269G>A" "" "" "" "ABCA4(NM_000350.2):c.1531C>T (p.R511C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0000717751" "0" "30" "1" "94546128" "94546128" "subst" "0" "01943" "ABCA4_001437" "g.94546128G>C" "" "" "" "ABCA4(NM_000350.2):c.1005C>G (p.L335=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000717752" "0" "50" "1" "94546207" "94546207" "subst" "0.000101665" "02327" "ABCA4_000083" "g.94546207G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000717753" "0" "50" "1" "94549000" "94549000" "subst" "0.000517603" "01943" "ABCA4_001438" "g.94549000G>A" "" "" "" "ABCA4(NM_000350.2):c.769-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000717754" "0" "90" "1" "94577010" "94577010" "subst" "1.22004E-5" "02327" "ABCA4_000224" "g.94577010T>C" "" "" "" "ABCA4(NM_000350.3):c.286A>G (p.N96D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000717755" "0" "70" "1" "94577010" "94577010" "subst" "1.22004E-5" "02329" "ABCA4_000224" "g.94577010T>C" "" "" "" "ABCA4(NM_000350.3):c.286A>G (p.N96D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0000729365" "0" "50" "1" "94487490" "94487490" "subst" "0.00122268" "03779" "ABCA4_000506" "g.94487490A>G" "" "" "" "" "" "CLASSIFICATION record" "" "rs1762111" "0" "" "" "" "" "VUS" ""
"0000729795" "1" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Wawrocka 2018:29769798}" "" "3142_3143dupAA" "no variant 2nd chromosome identified" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000730506" "1" "90" "1" "94496571" "94496571" "subst" "4.06174E-6" "00000" "ABCA4_000111" "g.94496571G>A" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94031015G>A" "" "pathogenic (recessive)" ""
"0000730507" "1" "90" "1" "94508323" "94508323" "subst" "0.000125953" "00000" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000730508" "1" "90" "1" "94476890" "94476890" "subst" "4.06227E-6" "00000" "ABCA4_000434" "g.94476890G>C" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94011334G>C" "" "pathogenic (recessive)" ""
"0000730509" "3" "90" "1" "94461735" "94461735" "subst" "0" "00000" "ABCA4_001414" "g.94461735G>T" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.93996179G>T" "" "pathogenic (recessive)" ""
"0000730510" "1" "90" "1" "94528248" "94528248" "subst" "1.22148E-5" "00000" "ABCA4_000279" "g.94528248A>T" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94062692A>T" "" "pathogenic (recessive)" ""
"0000730511" "1" "90" "1" "94544249" "94544249" "subst" "8.12196E-6" "00000" "ABCA4_000323" "g.94544249A>G" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94078693A>G" "" "pathogenic (recessive)" ""
"0000730512" "1" "90" "1" "94586550" "94586550" "subst" "1.21864E-5" "00000" "ABCA4_000037" "g.94586550G>A" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94120994G>A" "" "pathogenic (recessive)" ""
"0000730513" "1" "90" "1" "94476893" "94476893" "subst" "4.0624E-6" "00000" "ABCA4_001418" "g.94476893G>T" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94011337G>T" "" "pathogenic (recessive)" ""
"0000730514" "0" "30" "1" "94528774" "94528774" "subst" "0.00264827" "00000" "ABCA4_000298" "g.94528774C>T" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94063218C>T" "" "likely benign" ""
"0000730515" "1" "90" "1" "94544196" "94544196" "del" "0" "00000" "ABCA4_000318" "g.94544196del" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94078640del" "" "pathogenic (recessive)" ""
"0000730516" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "00000" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000730517" "1" "90" "1" "94577090" "94577090" "subst" "0" "00000" "ABCA4_000233" "g.94577090C>T" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94111534C>T" "" "pathogenic (recessive)" ""
"0000730518" "1" "90" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000730519" "1" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "00000" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000730520" "1" "90" "1" "94528240" "94528240" "subst" "4.06775E-6" "00000" "ABCA4_001434" "g.94528240A>T" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94062684A>T" "" "pathogenic (recessive)" ""
"0000730521" "1" "90" "1" "94520853" "94520853" "subst" "8.14783E-6" "00000" "ABCA4_000729" "g.94520853C>T" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94055297C>T" "" "pathogenic (recessive)" ""
"0000730522" "3" "90" "1" "94495078" "94495078" "subst" "8.37044E-6" "00000" "ABCA4_000042" "g.94495078A>G" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94029522A>G" "" "pathogenic (recessive)" ""
"0000730523" "1" "90" "1" "94586557" "94586557" "subst" "4.06134E-6" "00000" "ABCA4_000259" "g.94586557C>T" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94121001C>T" "" "pathogenic (recessive)" ""
"0000730524" "1" "90" "1" "94486896" "94486896" "subst" "3.65562E-5" "00000" "ABCA4_000085" "g.94486896G>A" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94021340G>A" "" "pathogenic (recessive)" ""
"0000730525" "1" "90" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000730526" "3" "90" "1" "94495078" "94495078" "subst" "8.37044E-6" "00000" "ABCA4_000042" "g.94495078A>G" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94029522A>G" "" "pathogenic (recessive)" ""
"0000730527" "1" "90" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000730528" "1" "90" "1" "94508373" "94508373" "subst" "0" "00000" "ABCA4_000639" "g.94508373C>T" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94042817C>T" "" "pathogenic (recessive)" ""
"0000730529" "1" "90" "1" "94496610" "94496610" "subst" "2.03128E-5" "00000" "ABCA4_000571" "g.94496610C>T" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94031054C>T" "" "pathogenic (recessive)" ""
"0000730530" "0" "90" "1" "94528806" "94528806" "subst" "0.000150298" "00000" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94063250A>G" "" "pathogenic (recessive)" ""
"0000730531" "1" "90" "1" "94520853" "94520853" "subst" "8.14783E-6" "00000" "ABCA4_000729" "g.94520853C>T" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94055297C>T" "" "pathogenic (recessive)" ""
"0000730532" "1" "90" "1" "94517254" "94517254" "subst" "0.00442654" "00000" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000730533" "1" "90" "1" "94476890" "94476890" "subst" "4.06227E-6" "00000" "ABCA4_000434" "g.94476890G>C" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94011334G>C" "" "pathogenic (recessive)" ""
"0000730534" "1" "90" "1" "94577102" "94577102" "subst" "4.06161E-6" "00000" "ABCA4_000033" "g.94577102C>T" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94111546C>T" "" "pathogenic (recessive)" ""
"0000730535" "1" "90" "1" "94543389" "94543389" "subst" "0" "00000" "ABCA4_001436" "g.94543389C>G" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94077833C>G" "" "pathogenic (recessive)" ""
"0000730536" "1" "90" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000730537" "1" "90" "1" "94496571" "94496571" "subst" "4.06174E-6" "00000" "ABCA4_000111" "g.94496571G>A" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94031015G>A" "" "pathogenic (recessive)" ""
"0000730538" "1" "90" "1" "94476351" "94476351" "subst" "0.000296608" "00000" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94010795C>T" "" "pathogenic (recessive)" ""
"0000730539" "1" "90" "1" "94495009" "94495009" "dup" "0" "00000" "ABCA4_000087" "g.94495009dup" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94029453dup" "" "pathogenic (recessive)" ""
"0000730540" "1" "90" "1" "94496610" "94496610" "subst" "2.03128E-5" "00000" "ABCA4_000571" "g.94496610C>T" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94031054C>T" "" "pathogenic (recessive)" ""
"0000730541" "1" "90" "1" "94485145" "94485145" "subst" "0" "00000" "ABCA4_001015" "g.94485145C>T" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94019589C>T" "" "pathogenic (recessive)" ""
"0000730542" "1" "90" "1" "94495989" "94495989" "subst" "8.12229E-6" "00000" "ABCA4_001090" "g.94495989C>A" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94030433C>A" "" "pathogenic (recessive)" ""
"0000730543" "1" "90" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000730544" "3" "90" "1" "94485162" "94485162" "subst" "0" "00000" "ABCA4_001419" "g.94485162C>T" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94019606C>T" "" "pathogenic (recessive)" ""
"0000730545" "1" "90" "1" "94528806" "94528806" "subst" "0.000150298" "00000" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94063250A>G" "" "pathogenic (recessive)" ""
"0000730546" "1" "30" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "likely benign" ""
"0000730547" "1" "90" "1" "94506819" "94506819" "subst" "0" "00000" "ABCA4_001426" "g.94506819G>C" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94041263G>C" "" "pathogenic (recessive)" ""
"0000730548" "1" "90" "1" "94508986" "94508986" "del" "0" "00000" "ABCA4_001428" "g.94508986del" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94043430del" "" "pathogenic (recessive)" ""
"0000730549" "1" "90" "1" "94508433" "94508433" "subst" "8.12209E-6" "00000" "ABCA4_000151" "g.94508433G>A" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94042877G>A" "" "pathogenic (recessive)" ""
"0000730550" "1" "90" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000730551" "1" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "00000" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000730552" "1" "90" "1" "94471055" "94471055" "subst" "0.00035346" "00000" "ABCA4_000029" "g.94471055C>T" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94005499C>T" "" "pathogenic (recessive)" ""
"0000730553" "1" "30" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "likely benign" ""
"0000730554" "1" "90" "1" "94497591" "94497591" "subst" "0" "00000" "ABCA4_000587" "g.94497591G>A" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94032035G>A" "" "pathogenic (recessive)" ""
"0000730555" "1" "90" "1" "94528806" "94528806" "subst" "0.000150298" "00000" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94063250A>G" "" "pathogenic (recessive)" ""
"0000730556" "1" "90" "1" "94508316" "94510301" "del" "0" "00000" "ABCA4_000041" "g.(94506959_94508316)_(94510301_94512474)del" "" "{PMID:Birtel 2018:29555955}" "" "del ex20-22" "" "Germline" "" "" "0" "" "" "g.(94041403_94042760)_(94044745_94046918)del" "" "pathogenic (recessive)" ""
"0000730557" "1" "90" "1" "94528248" "94528248" "subst" "1.22148E-5" "00000" "ABCA4_000279" "g.94528248A>T" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94062692A>T" "" "pathogenic (recessive)" ""
"0000730558" "1" "90" "1" "94510271" "94510271" "subst" "0" "00000" "ABCA4_000670" "g.94510271G>A" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94044715G>A" "" "pathogenic (recessive)" ""
"0000730559" "1" "90" "1" "94528806" "94528806" "subst" "0.000150298" "00000" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Birtel 2018:29555955}" "" "" "pseudo-dominant" "Germline" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (!)" ""
"0000730560" "1" "90" "1" "94471055" "94471055" "subst" "0.00035346" "00000" "ABCA4_000029" "g.94471055C>T" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94005499C>T" "" "pathogenic (recessive)" ""
"0000730561" "1" "90" "1" "94528263" "94528263" "subst" "0" "00000" "ABCA4_001348" "g.94528263A>G" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94062707A>G" "" "pathogenic (recessive)" ""
"0000730562" "1" "90" "1" "94476351" "94476351" "subst" "0.000296608" "00000" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94010795C>T" "" "pathogenic (recessive)" ""
"0000730563" "1" "90" "1" "94564484" "94564484" "subst" "0.000110199" "00000" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94098928G>A" "" "pathogenic (recessive)" ""
"0000730564" "1" "90" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000730565" "1" "90" "1" "94476951" "94476951" "subst" "0.000236097" "00000" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000730566" "1" "30" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "likely benign" ""
"0000730567" "1" "90" "1" "94471032" "94471032" "subst" "1.62553E-5" "00000" "ABCA4_000792" "g.94471032G>A" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94005476G>A" "" "pathogenic (recessive)" ""
"0000730568" "1" "90" "1" "94508435" "94508436" "dup" "0" "00000" "ABCA4_000998" "g.94508435_94508436dup" "" "{PMID:Birtel 2018:29555955}" "" "" "pseudo-dominant" "Germline" "" "" "0" "" "" "g.94042879_94042880dup" "" "likely pathogenic (!)" ""
"0000730569" "1" "90" "1" "94496571" "94496571" "subst" "4.06174E-6" "00000" "ABCA4_000111" "g.94496571G>A" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94031015G>A" "" "pathogenic (recessive)" ""
"0000730570" "1" "90" "1" "94564374" "94564377" "del" "0" "00000" "ABCA4_001439" "g.94564374_94564377del" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94098818_94098821del" "" "pathogenic (recessive)" ""
"0000730571" "1" "90" "1" "94528278" "94528278" "subst" "8.14571E-5" "00000" "ABCA4_000286" "g.94528278C>T" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94062722C>T" "" "pathogenic (recessive)" ""
"0000730572" "1" "90" "1" "94476351" "94476351" "subst" "0.000296608" "00000" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94010795C>T" "" "pathogenic (recessive)" ""
"0000730573" "1" "30" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "likely benign" ""
"0000730574" "1" "90" "1" "94526212" "94526212" "subst" "1.22012E-5" "00000" "ABCA4_000075" "g.94526212G>A" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94060656G>A" "" "pathogenic (recessive)" ""
"0000730575" "1" "30" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "likely benign" ""
"0000730576" "1" "90" "1" "94476951" "94476951" "subst" "0.000236097" "00000" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000730577" "1" "30" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "likely benign" ""
"0000730578" "1" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "00000" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000730579" "1" "90" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000730580" "1" "90" "1" "94568671" "94568671" "subst" "0" "00000" "ABCA4_000947" "g.94568671A>T" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94103115A>T" "" "pathogenic (recessive)" ""
"0000730581" "1" "90" "1" "94520705" "94520705" "subst" "0" "00000" "ABCA4_000714" "g.94520705T>C" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94055149T>C" "" "pathogenic (recessive)" ""
"0000730582" "1" "90" "1" "94495072" "94495072" "subst" "0" "00000" "ABCA4_001422" "g.94495072A>G" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94029516A>G" "" "pathogenic (recessive)" ""
"0000730583" "1" "90" "1" "94486960" "94486960" "subst" "0" "00000" "ABCA4_001421" "g.94486960C>A" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94021404C>A" "" "pathogenic (recessive)" ""
"0000730584" "1" "90" "1" "94546261" "94546261" "subst" "0.000648567" "00000" "ABCA4_000353" "g.94546261G>A" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94080705G>A" "" "pathogenic (recessive)" ""
"0000730585" "1" "90" "1" "94517254" "94517254" "subst" "0.00442654" "00000" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000730586" "1" "90" "1" "94517216" "94517216" "subst" "0" "00000" "ABCA4_001429" "g.94517216G>A" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94051660G>A" "" "pathogenic (recessive)" ""
"0000730587" "1" "90" "1" "94517254" "94517254" "subst" "0.00442654" "00000" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000730588" "1" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "00000" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Birtel 2018:29555955}" "" "" "pseudo-dominant" "Germline" "" "" "0" "" "" "g.94098794C>A" "" "likely pathogenic (!)" ""
"0000730589" "1" "90" "1" "94485136" "94485136" "subst" "0" "00000" "ABCA4_000189" "g.94485136A>G" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94019580A>G" "" "pathogenic (recessive)" ""
"0000730590" "1" "90" "1" "94577082" "94577082" "subst" "2.84315E-5" "00000" "ABCA4_000232" "g.94577082C>T" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94111526C>T" "" "pathogenic (recessive)" ""
"0000730591" "1" "90" "1" "94522284" "94522284" "subst" "0" "00000" "ABCA4_001431" "g.94522284C>T" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94056728C>T" "" "pathogenic (recessive)" ""
"0000730592" "1" "90" "1" "94497591" "94497591" "subst" "0" "00000" "ABCA4_000587" "g.94497591G>A" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94032035G>A" "" "pathogenic (recessive)" ""
"0000730593" "1" "90" "1" "94546261" "94546261" "subst" "0.000648567" "00000" "ABCA4_000353" "g.94546261G>A" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94080705G>A" "" "pathogenic (recessive)" ""
"0000730594" "1" "90" "1" "94467481" "94467481" "subst" "0" "00000" "ABCA4_001417" "g.94467481C>T" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94001925C>T" "" "pathogenic (recessive)" ""
"0000730595" "1" "90" "1" "94467481" "94467481" "subst" "0" "00000" "ABCA4_001417" "g.94467481C>T" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94001925C>T" "" "pathogenic (recessive)" ""
"0000730596" "1" "90" "1" "94528806" "94528806" "subst" "0.000150298" "00000" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94063250A>G" "" "pathogenic (recessive)" ""
"0000730597" "1" "90" "1" "94528806" "94528806" "subst" "0.000150298" "00000" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94063250A>G" "" "pathogenic (recessive)" ""
"0000730598" "1" "90" "1" "94487399" "94487399" "subst" "7.30959E-5" "00000" "ABCA4_000038" "g.94487399T>C" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94021843T>C" "" "pathogenic (recessive)" ""
"0000730599" "1" "90" "1" "94528806" "94528806" "subst" "0.000150298" "00000" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94063250A>G" "" "pathogenic (recessive)" ""
"0000730697" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000730698" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000730699" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000730700" "0" "30" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "likely benign" ""
"0000730701" "2" "90" "1" "94517254" "94517254" "subst" "0.00442654" "00000" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000730702" "0" "90" "1" "94528713" "94528713" "subst" "4.87381E-5" "00000" "ABCA4_000072" "g.94528713C>T" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94063157C>T" "" "pathogenic (recessive)" ""
"0000730703" "2" "90" "1" "94476853" "94476853" "subst" "4.06243E-6" "00000" "ABCA4_000429" "g.94476853A>G" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94011297A>G" "" "pathogenic (recessive)" ""
"0000730704" "0" "30" "1" "94487404" "94487404" "subst" "0.00244055" "00000" "ABCA4_000497" "g.94487404C>T" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94021848C>T" "" "likely benign" ""
"0000730705" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000730706" "2" "90" "1" "94496571" "94496571" "subst" "4.06174E-6" "00000" "ABCA4_000111" "g.94496571G>A" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94031015G>A" "" "pathogenic (recessive)" ""
"0000730707" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000730708" "2" "90" "1" "94486941" "94486941" "subst" "0" "00000" "ABCA4_001420" "g.94486941G>A" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94021385G>A" "" "pathogenic (recessive)" ""
"0000730709" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000730710" "0" "90" "1" "94564462" "94564462" "subst" "4.06775E-5" "00000" "ABCA4_000380" "g.94564462C>G" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94098906C>G" "" "pathogenic (recessive)" ""
"0000730711" "2" "90" "1" "94496571" "94496571" "subst" "4.06174E-6" "00000" "ABCA4_000111" "g.94496571G>A" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94031015G>A" "" "pathogenic (recessive)" ""
"0000730712" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000730713" "2" "90" "1" "94476377" "94476377" "subst" "0.00160473" "00000" "ABCA4_000411" "g.94476377C>T" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94010821C>T" "" "pathogenic (recessive)" ""
"0000730714" "2" "90" "1" "94473278" "94473278" "del" "3.25908E-5" "00000" "ABCA4_000392" "g.94473278del" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94007722del" "" "pathogenic (recessive)" ""
"0000730715" "0" "90" "1" "94496039" "94496039" "subst" "0.00157963" "00000" "ABCA4_000552" "g.94496039C>T" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94030483C>T" "" "pathogenic (recessive)" ""
"0000730716" "2" "30" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "likely benign" ""
"0000730717" "2" "90" "1" "94473266" "94473266" "subst" "8.14677E-6" "00000" "ABCA4_000389" "g.94473266C>T" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94007710C>T" "" "pathogenic (recessive)" ""
"0000730718" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "00000" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000730719" "2" "90" "1" "94586557" "94586557" "subst" "4.06134E-6" "00000" "ABCA4_000259" "g.94586557C>T" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94121001C>T" "" "pathogenic (recessive)" ""
"0000730720" "0" "30" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "likely benign" ""
"0000730721" "3" "90" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000730722" "2" "90" "1" "94517254" "94517254" "subst" "0.00442654" "00000" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000730723" "2" "90" "1" "94528167" "94528167" "subst" "0" "00000" "ABCA4_000268" "g.94528167G>A" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94062611G>A" "" "pathogenic (recessive)" ""
"0000730724" "2" "90" "1" "94522239" "94522239" "subst" "2.03305E-5" "00000" "ABCA4_000736" "g.94522239A>T" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94056683A>T" "" "pathogenic (recessive)" ""
"0000730725" "2" "90" "1" "94476951" "94476951" "subst" "0.000236097" "00000" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000730726" "2" "90" "1" "94473278" "94473278" "del" "3.25908E-5" "00000" "ABCA4_000392" "g.94473278del" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94007722del" "" "pathogenic (recessive)" ""
"0000730727" "2" "30" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "likely benign" ""
"0000730728" "0" "90" "1" "94473266" "94473266" "subst" "8.14677E-6" "00000" "ABCA4_000389" "g.94473266C>T" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94007710C>T" "" "pathogenic (recessive)" ""
"0000730729" "3" "30" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "likely benign" ""
"0000730730" "2" "90" "1" "94528132" "94528874" "del" "0" "00000" "ABCA4_002353" "g.(94526316_94528132)_(94528874_94543245)del" "" "{PMID:Birtel 2018:29555955}" "" "del ex12-13" "" "Germline" "" "" "0" "" "" "g.(94060760_94062576)_(94063318_94077689)del" "" "pathogenic (recessive)" ""
"0000730731" "2" "90" "1" "94528844" "94528844" "subst" "0" "00000" "ABCA4_001435" "g.94528844G>T" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94063288G>T" "" "pathogenic (recessive)" ""
"0000730732" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "00000" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000730733" "0" "90" "1" "94528132" "94528132" "subst" "4.06835E-6" "00000" "ABCA4_000773" "g.94528132C>T" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94062576C>T" "" "pathogenic (recessive)" ""
"0000730734" "2" "90" "1" "94485275" "94485275" "subst" "4.09068E-5" "00000" "ABCA4_001089" "g.94485275T>A" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94019719T>A" "" "pathogenic (recessive)" ""
"0000730735" "2" "90" "1" "94508402" "94508402" "subst" "0" "00000" "ABCA4_001427" "g.94508402C>A" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94042846C>A" "" "pathogenic (recessive)" ""
"0000730736" "0" "90" "1" "94528806" "94528806" "subst" "0.000150298" "00000" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94063250A>G" "" "pathogenic (recessive)" ""
"0000730737" "2" "90" "1" "94485136" "94485136" "subst" "0" "00000" "ABCA4_000189" "g.94485136A>G" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94019580A>G" "" "pathogenic (recessive)" ""
"0000730738" "2" "90" "1" "94506901" "94506901" "subst" "0.000308665" "00000" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000730739" "0" "90" "1" "94528806" "94528806" "subst" "0.000150298" "00000" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94063250A>G" "" "pathogenic (recessive)" ""
"0000730740" "2" "90" "1" "94466452" "94466452" "subst" "0" "00000" "ABCA4_000823" "g.94466452A>C" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94000896A>C" "" "pathogenic (recessive)" ""
"0000730741" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000730742" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "00000" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000730743" "2" "90" "1" "94517254" "94517254" "subst" "0.00442654" "00000" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000730744" "2" "30" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "likely benign" ""
"0000730745" "0" "30" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "likely benign" ""
"0000730746" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "00000" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000730747" "2" "90" "1" "94463568" "94463603" "del" "0" "00000" "ABCA4_000805" "g.94463568_94463603del" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.93998012_93998047del" "" "pathogenic (recessive)" ""
"0000730748" "2" "90" "1" "94495078" "94495078" "subst" "8.37044E-6" "00000" "ABCA4_000042" "g.94495078A>G" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94029522A>G" "" "pathogenic (recessive)" ""
"0000730749" "2" "90" "1" "94508384" "94508384" "subst" "0" "00000" "ABCA4_000641" "g.94508384T>G" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94042828T>G" "" "pathogenic (recessive)" ""
"0000730750" "2" "30" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "likely benign" ""
"0000730751" "2" "90" "1" "94473278" "94473278" "del" "3.25908E-5" "00000" "ABCA4_000392" "g.94473278del" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94007722del" "" "pathogenic (recessive)" ""
"0000730752" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "00000" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000730753" "0" "90" "1" "94546261" "94546261" "subst" "0.000648567" "00000" "ABCA4_000353" "g.94546261G>A" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94080705G>A" "" "pathogenic (recessive)" ""
"0000730754" "2" "90" "1" "94543277" "94543277" "subst" "0" "00000" "ABCA4_001042" "g.94543277C>G" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94077721C>G" "" "pathogenic (recessive)" ""
"0000730755" "3" "30" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "likely benign" ""
"0000730756" "0" "90" "1" "94528806" "94528806" "subst" "0.000150298" "00000" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94063250A>G" "" "pathogenic (recessive)" ""
"0000730757" "2" "30" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "likely benign" ""
"0000730758" "0" "30" "1" "94487404" "94487404" "subst" "0.00244055" "00000" "ABCA4_000497" "g.94487404C>T" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94021848C>T" "" "likely benign" ""
"0000730759" "0" "90" "1" "94495077" "94495077" "subst" "0" "00000" "ABCA4_000184" "g.94495077C>T" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94029521C>T" "" "pathogenic (recessive)" ""
"0000730760" "0" "30" "1" "94467548" "94467548" "subst" "0.00295661" "00000" "ABCA4_000788" "g.94467548C>G" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94001992C>G" "" "likely benign" ""
"0000730761" "2" "90" "1" "94480178" "94480178" "subst" "2.43692E-5" "00000" "ABCA4_000005" "g.94480178G>T" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94014622G>T" "" "pathogenic (recessive)" ""
"0000730762" "2" "90" "1" "94467467" "94467467" "subst" "4.06164E-6" "00000" "ABCA4_000780" "g.94467467G>A" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94001911G>A" "" "pathogenic (recessive)" ""
"0000730763" "3" "30" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "likely benign" ""
"0000730764" "0" "90" "1" "94528806" "94528806" "subst" "0.000150298" "00000" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94063250A>G" "" "pathogenic (recessive)" ""
"0000730765" "0" "90" "1" "94544234" "94544234" "subst" "0.255245" "00000" "ABCA4_000322" "g.94544234T>C" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94078678T>C" "" "pathogenic (recessive)" ""
"0000730766" "2" "90" "1" "94463399" "94463413" "del" "0" "00000" "ABCA4_000851" "g.94463399_94463413del" "" "{PMID:Birtel 2018:29555955}" "" "6729+19del13" "" "Germline" "" "" "0" "" "" "g.93997843_93997857del" "" "pathogenic (recessive)" ""
"0000730767" "3" "30" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "likely benign" ""
"0000730768" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000730769" "0" "30" "1" "94487490" "94487490" "subst" "0.00122268" "00000" "ABCA4_000506" "g.94487490A>G" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94021934A>G" "" "likely benign" ""
"0000730770" "2" "30" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "likely benign" ""
"0000730771" "0" "90" "1" "94543269" "94543269" "subst" "0.000179087" "00000" "ABCA4_000307" "g.94543269G>A" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94077713G>A" "" "pathogenic (recessive)" ""
"0000730772" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "00000" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000730773" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000730774" "0" "30" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "likely benign" ""
"0000730775" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "00000" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000730776" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000730777" "2" "30" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "likely benign" ""
"0000730778" "2" "90" "1" "94476425" "94476425" "subst" "8.12282E-6" "00000" "ABCA4_000419" "g.94476425A>G" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94010869A>G" "" "pathogenic (recessive)" ""
"0000730779" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000730780" "2" "90" "1" "94528142" "94528142" "subst" "0.00153303" "00000" "ABCA4_000125" "g.94528142A>C" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94062586A>C" "" "pathogenic (recessive)" ""
"0000730781" "0" "30" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "likely benign" ""
"0000730782" "2" "30" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "likely benign" ""
"0000730783" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "00000" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000730784" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "00000" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000730785" "2" "90" "1" "94471026" "94471026" "subst" "1.21925E-5" "00000" "ABCA4_000791" "g.94471026G>A" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94005470G>A" "" "pathogenic (recessive)" ""
"0000730786" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "00000" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000730798" "0" "50" "1" "94487354" "94487354" "subst" "0.584631" "00000" "ABCA4_000897" "g.94487354G>A" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94021798G>A" "" "VUS" ""
"0000730799" "0" "30" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "likely benign" ""
"0000730800" "0" "90" "1" "94517254" "94517254" "subst" "4.06478E-6" "00000" "ABCA4_000158" "g.94517254C>T" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94051698C>T" "" "pathogenic (recessive)" ""
"0000730801" "1" "90" "1" "94528806" "94528806" "subst" "0.000150298" "00000" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94063250A>G" "" "pathogenic (recessive)" ""
"0000730802" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "00000" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000730803" "0" "90" "1" "94466618" "94466618" "subst" "0" "00000" "ABCA4_001415" "g.94466618A>G" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94001062A>G" "" "pathogenic (recessive)" ""
"0000730804" "1" "90" "1" "94528132" "94528310" "del" "0" "00000" "ABCA4_000193" "g.(94526316_94528132)_(94528310_94528667)del" "" "{PMID:Birtel 2018:29555955}" "" "whole-exon deletion" "" "Germline" "" "" "0" "" "" "g.(94060760_94062576)_(94062754_94063111)del" "" "pathogenic (recessive)" ""
"0000730805" "0" "90" "1" "94528806" "94528806" "subst" "0.000150298" "00000" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94063250A>G" "" "pathogenic (recessive)" ""
"0000730806" "0" "90" "1" "94471065" "94471065" "subst" "0.000194997" "00000" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94005509G>A" "" "pathogenic (recessive)" ""
"0000730807" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "00000" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000730808" "0" "90" "1" "94546124" "94546124" "subst" "0" "00000" "ABCA4_000342" "g.94546124A>G" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94080568A>G" "" "pathogenic (recessive)" ""
"0000730809" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "00000" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000730810" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "00000" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000730811" "0" "90" "1" "94528132" "94528310" "del" "0" "00000" "ABCA4_000193" "g.(94526316_94528132)_(94528310_94528667)del" "" "{PMID:Birtel 2018:29555955}" "" "whole-exon deletion" "" "Germline" "" "" "0" "" "" "g.(94060760_94062576)_(94062754_94063111)del" "" "pathogenic (recessive)" ""
"0000730812" "0" "90" "1" "94476351" "94476351" "subst" "0.000296608" "00000" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94010795C>T" "" "pathogenic (recessive)" ""
"0000730813" "0" "90" "1" "94528179" "94528179" "subst" "0" "00000" "ABCA4_001433" "g.94528179C>T" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94062623C>T" "" "pathogenic (recessive)" ""
"0000730814" "3" "30" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "likely benign" ""
"0000730815" "0" "90" "1" "94466638" "94466638" "dup" "0" "00000" "ABCA4_001416" "g.94466638dup" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94001082dup" "" "pathogenic (recessive)" ""
"0000730816" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "00000" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000730817" "0" "90" "1" "94496571" "94496571" "subst" "4.06174E-6" "00000" "ABCA4_000111" "g.94496571G>A" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94031015G>A" "" "pathogenic (recessive)" ""
"0000730818" "0" "30" "1" "94467548" "94467548" "subst" "0.00295661" "00000" "ABCA4_000788" "g.94467548C>G" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94001992C>G" "" "likely benign" ""
"0000730819" "0" "90" "1" "94568687" "94568687" "subst" "1.62641E-5" "00000" "ABCA4_000024" "g.94568687G>A" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94103131G>A" "" "pathogenic (recessive)" ""
"0000730821" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "00000" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000730822" "0" "30" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "likely benign" ""
"0000730823" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "00000" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000730824" "0" "90" "1" "94495082" "94495082" "del" "0" "00000" "ABCA4_001423" "g.94495082del" "" "{PMID:Birtel 2018:29555955}" "" "4458delA" "" "Germline" "" "" "0" "" "" "g.94029526del" "" "pathogenic (recessive)" ""
"0000730825" "0" "90" "1" "94506805" "94506805" "subst" "2.03051E-5" "00000" "ABCA4_001294" "g.94506805C>T" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94041249C>T" "" "pathogenic (recessive)" ""
"0000730826" "3" "30" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "likely benign" ""
"0000730827" "0" "90" "1" "94564424" "94564424" "subst" "5.6868E-5" "00000" "ABCA4_001440" "g.94564424G>A" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94098868G>A" "" "pathogenic (recessive)" ""
"0000730828" "0" "90" "1" "94508997" "94508997" "subst" "0" "00000" "ABCA4_000112" "g.94508997G>A" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94043441G>A" "" "pathogenic (recessive)" ""
"0000730829" "0" "30" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "likely benign" ""
"0000730830" "2" "90" "1" "94484001" "94484001" "subst" "0" "00000" "ABCA4_000016" "g.94484001C>T" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94018445C>T" "" "pathogenic (recessive)" ""
"0000730831" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000730832" "0" "90" "1" "94466624" "94466624" "subst" "0.0014345" "00000" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94001068C>T" "" "pathogenic (recessive)" ""
"0000730833" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "00000" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000730834" "0" "90" "1" "94476388" "94476388" "subst" "0.215397" "00000" "ABCA4_000890" "g.94476388C>G" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94010832C>G" "" "pathogenic (recessive)" ""
"0000730835" "0" "90" "1" "94512565" "94512565" "subst" "0.030364" "00000" "ABCA4_000002" "g.94512565C>T" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94047009C>T" "" "pathogenic (recessive)" ""
"0000730836" "2" "90" "1" "94508969" "94508969" "subst" "0.00168642" "00000" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000730837" "0" "30" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "likely benign" ""
"0000730838" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "00000" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000730839" "0" "30" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "likely benign" ""
"0000730840" "0" "30" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "likely benign" ""
"0000730841" "0" "30" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "likely benign" ""
"0000730842" "0" "30" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "likely benign" ""
"0000730975" "1" "70" "1" "94471025" "94471025" "subst" "0.00031698" "00000" "ABCA4_000096" "g.94471025C>T" "" "{PMID:Bryant 2018:29343940}" "" "" "" "Germline" "" "rs148460146" "0" "" "" "g.94005469C>T" "" "likely pathogenic (recessive)" ""
"0000730976" "1" "70" "1" "94495177" "94495177" "subst" "1.22342E-5" "00000" "ABCA4_000023" "g.94495177A>G" "" "{PMID:Bryant 2018:29343940}" "" "" "" "Germline" "" "rs758835368" "0" "" "" "g.94029621A>G" "" "likely pathogenic (recessive)" ""
"0000730977" "1" "70" "1" "94517254" "94517254" "subst" "0.00442654" "00000" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Bryant 2018:29343940}" "" "" "" "Germline" "" "rs76157638" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000730978" "3" "70" "1" "94473278" "94473278" "del" "3.25908E-5" "00000" "ABCA4_000392" "g.94473278del" "" "{PMID:Bryant 2018:29343940}" "" "" "" "Germline" "" "rs61751389" "0" "" "" "g.94007722del" "" "likely pathogenic (recessive)" ""
"0000730979" "1" "70" "1" "94528679" "94528679" "subst" "2.84368E-5" "00000" "ABCA4_000292" "g.94528679C>G" "" "{PMID:Bryant 2018:29343940}" "" "" "" "Germline" "" "rs145265791" "0" "" "" "g.94063123C>G" "" "likely pathogenic (recessive)" ""
"0000731018" "0" "50" "1" "94512565" "94512565" "subst" "0.030364" "00000" "ABCA4_000002" "g.94512565C>T" "" "{PMID:Bryant 2018:29343940}" "" "" "" "Germline" "" "rs61749446" "0" "" "" "g.94047009C>T" "" "VUS" ""
"0000731021" "1" "30" "1" "94512565" "94512565" "subst" "0.030364" "00000" "ABCA4_000002" "g.94512565C>T" "" "{PMID:Bryant 2018:29343940}" "" "" "" "Germline" "" "rs1801581" "0" "" "" "g.94047009C>T" "" "likely benign" ""
"0000731026" "2" "70" "1" "94512514" "94512514" "del" "0" "00000" "ABCA4_001442" "g.94512514del" "" "{PMID:Bryant 2018:29343940}" "" "" "" "Germline" "" "" "0" "" "" "g.94046958del" "" "likely pathogenic (recessive)" ""
"0000731027" "2" "70" "1" "94488943" "94488943" "del" "0" "00000" "ABCA4_000513" "g.94488943del" "" "{PMID:Bryant 2018:29343940}" "" "" "" "Germline" "" "" "0" "" "" "g.94023387del" "" "likely pathogenic (recessive)" ""
"0000731029" "2" "70" "1" "94497477" "94497480" "del" "0" "00000" "ABCA4_001441" "g.94497477_94497480del" "" "{PMID:Bryant 2018:29343940}" "" "" "" "Germline" "" "" "0" "" "" "g.94031921_94031924del" "" "likely pathogenic (recessive)" ""
"0000731030" "2" "70" "1" "94490550" "94490550" "subst" "0.000105588" "00000" "ABCA4_000523" "g.94490550C>T" "" "{PMID:Bryant 2018:29343940}" "" "" "" "Germline" "" "rs62642574" "0" "" "" "g.94024994C>T" "" "likely pathogenic (recessive)" ""
"0000731062" "0" "50" "1" "94512565" "94512565" "subst" "0.030364" "00000" "ABCA4_000002" "g.94512565C>T" "" "{PMID:Bryant 2018:29343940}" "" "" "" "Germline" "" "rs61749446" "0" "" "" "g.94047009C>T" "" "VUS" ""
"0000731076" "0" "50" "1" "94505604" "94505604" "subst" "0.00645586" "00000" "ABCA4_000092" "g.94505604A>C" "" "{PMID:Bryant 2018:29343940}" "" "3602G>T" "" "Germline" "" "rs61750126" "0" "" "" "g.94040048A>C" "" "VUS" ""
"0000731087" "0" "50" "1" "94544977" "94544977" "subst" "0.000544432" "00000" "ABCA4_000332" "g.94544977A>T" "" "{PMID:Bryant 2018:29343940}" "" "" "" "Germline" "" "rs61748549" "0" "" "" "g.94079421A>T" "" "VUS" ""
"0000731131" "11" "30" "1" "94476377" "94476377" "subst" "0.00160473" "00006" "ABCA4_000411" "g.94476377C>T" "" "{PMID:Lin 2018:29207047}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "VUS" ""
"0000731151" "3" "90" "1" "94486888" "94486888" "subst" "3.65548E-5" "00000" "ABCA4_000137" "g.94486888G>C" "" "{PMID:Porto 2017:29186038}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000731153" "1" "90" "1" "94471056" "94471056" "subst" "2.84398E-5" "00000" "ABCA4_000050" "g.94471056G>A" "" "{PMID:Porto 2017:29186038}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000731157" "1" "90" "1" "94496008" "94496008" "subst" "2.03056E-5" "00000" "ABCA4_000148" "g.94496008C>T" "" "{PMID:Porto 2017:29186038}" "" "" "" "Germline" "" "" "0" "" "" "g.94030452C>T" "" "pathogenic (recessive)" ""
"0000731158" "1" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "00000" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Porto 2017:29186038}" "" "" "" "Germline" "" "" "0" "" "" "g.94062710G>A" "" "pathogenic (recessive)" ""
"0000731159" "3" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "00000" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Porto 2017:29186038}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000731173" "3" "90" "1" "94485279" "94485293" "del" "0" "00000" "ABCA4_000476" "g.94485279_94485293del" "" "{PMID:Porto 2017:29186038}" "" "94485275TCACGCAGATGGCAAC>T" "" "Germline" "" "" "0" "" "" "g.94019723_94019737del" "" "pathogenic (recessive)" ""
"0000731175" "2" "90" "1" "94508435" "94508436" "dup" "0" "00000" "ABCA4_000998" "g.94508435_94508436dup" "" "{PMID:Porto 2017:29186038}" "" "3211_3212insGT" "" "Germline" "" "" "0" "" "" "g.94042879_94042880dup" "" "pathogenic (recessive)" ""
"0000731177" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "00000" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Porto 2017:29186038}" "" "" "" "Germline" "" "" "0" "" "" "g.94062710G>A" "" "pathogenic (recessive)" ""
"0000731178" "0" "90" "1" "94528806" "94528806" "subst" "0.000150298" "00000" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Porto 2017:29186038}" "" "" "" "Germline" "" "" "0" "" "" "g.94063250A>G" "" "pathogenic (recessive)" ""
"0000731179" "2" "90" "1" "94528806" "94528806" "subst" "0.000150298" "00000" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Porto 2017:29186038}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000731481" "1" "90" "1" "94528806" "94528806" "subst" "0.000150298" "00000" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Avela 2018:29068140}" "" "" "" "Germline" "" "" "0" "" "" "g.94063250A>G" "" "pathogenic (recessive)" ""
"0000731482" "1" "90" "1" "94528806" "94528806" "subst" "0.000150298" "00000" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Avela 2018:29068140}" "" "" "" "Germline" "" "" "0" "" "" "g.94063250A>G" "" "pathogenic (recessive)" ""
"0000731498" "1" "50" "1" "94528806" "94528806" "subst" "0.000150298" "00000" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Avela 2018:29068140}" "" "unknown variant 2n chromosome" "" "Germline" "" "" "0" "" "" "g.94063250A>G" "" "VUS" ""
"0000731499" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "00000" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Avela 2018:29068140}" "" "unknown variant 2n chromosome" "" "Germline" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000731502" "0" "90" "1" "94487490" "94487490" "subst" "0.00122268" "00000" "ABCA4_000506" "g.94487490A>G" "" "{PMID:Avela 2018:29068140}" "" "" "" "Germline" "" "" "0" "" "" "g.94021934A>G" "" "pathogenic (recessive)" ""
"0000731512" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "00000" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Avela 2018:29068140}" "" "" "" "Germline" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000731513" "2" "90" "1" "94508969" "94508969" "subst" "0.00168642" "00000" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Avela 2018:29068140}" "" "" "" "Germline" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000731518" "1" "50" "1" "94508969" "94508969" "subst" "0.00168642" "00000" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Avela 2018:29068140}" "" "unknown variant 2n chromosome" "" "Germline" "" "" "0" "" "" "g.94043413G>A" "" "VUS" ""
"0000731524" "0" "70" "1" "94528818" "94528818" "subst" "0.00205975" "00006" "ABCA4_001239" "g.94528818C>T" "" "{PMID:Avela 2018:29068140}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000732365" "0" "70" "1" "94564430" "94564430" "subst" "0" "03971" "ABCA4_000376" "g.94564430A>T" "" "Mena et al., 2020 submitted." "" "" "" "Germline" "?" "rs1057518767" "" "" "" "" "" "likely pathogenic" "ACMG"
"0000732366" "0" "90" "1" "94546248" "94546248" "del" "2.03666E-5" "03971" "ABCA4_000352" "g.94546248del" "" "Mena et al., 2020 submitted." "" "885delC" "" "Germline" "?" "" "0" "" "" "g.94080692del" "" "pathogenic" "ACMG"
"0000732367" "0" "90" "1" "94564484" "94564484" "subst" "0.000110199" "03971" "ABCA4_000036" "g.94564484G>A" "" "Mena et al., 2020 submitted." "" "" "" "Germline" "?" "rs61750200" "" "" "" "" "" "pathogenic" "ACMG"
"0000732368" "0" "70" "1" "94526296" "94526296" "subst" "1.64555E-5" "03971" "ABCA4_000768" "g.94526296G>A" "" "Mena et al., 2020 submitted." "" "" "" "Germline" "?" "" "" "" "" "" "" "likely pathogenic" "ACMG"
"0000732369" "0" "70" "1" "94485221" "94485221" "subst" "0" "03971" "ABCA4_000471" "g.94485221G>A" "" "Mena et al., 2020 submitted." "" "" "" "Germline" "?" "rs771038310" "" "" "" "" "" "likely pathogenic" "ACMG"
"0000732370" "0" "70" "1" "94467466" "94467466" "subst" "8.12328E-6" "03971" "ABCA4_000779" "g.94467466C>T" "" "Mena et al., 2020 submitted" "" "" "" "Germline" "?" "rs886044759" "" "" "" "" "" "likely pathogenic" "ACMG"
"0000732371" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sheremet 2017:28980559}" "" "G5882A" "" "Germline" "" "rs1800553" "0" "" "" "g.94008251C>T" "" "pathogenic" ""
"0000732372" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sheremet 2017:28980559}" "" "G5882A" "" "Germline" "" "rs1800553" "0" "" "" "g.94008251C>T" "" "pathogenic" ""
"0000732373" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sheremet 2017:28980559}" "" "G5882A" "" "Germline" "" "rs1800553" "0" "" "" "g.94008251C>T" "" "pathogenic" ""
"0000732374" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sheremet 2017:28980559}" "" "G5882A" "" "Germline" "" "rs1800553" "0" "" "" "g.94008251C>T" "" "pathogenic" ""
"0000732375" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sheremet 2017:28980559}" "" "G5882A" "" "Germline" "" "rs1800553" "0" "" "" "g.94008251C>T" "" "pathogenic" ""
"0000732376" "0" "90" "1" "94528197" "94528197" "subst" "0" "00000" "ABCA4_001473" "g.94528197G>A" "" "{PMID:Sheremet 2017:28980559}" "" "C1873T" "" "Germline" "" "" "0" "" "" "g.94062641G>A" "" "pathogenic" ""
"0000732377" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "00000" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Sheremet 2017:28980559}" "" "C3113T" "" "Germline" "" "rs61751374" "0" "" "" "g.94043413G>A" "" "pathogenic" ""
"0000732378" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sheremet 2017:28980559}" "" "G5882A" "" "Germline" "" "rs1800553" "0" "" "" "g.94008251C>T" "" "pathogenic" ""
"0000732379" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "00000" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Sheremet 2017:28980559}" "" "C3113T" "" "Germline" "" "rs61751374" "0" "" "" "g.94043413G>A" "" "pathogenic" ""
"0000732380" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "00000" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Sheremet 2017:28980559}" "" "C3113T" "" "Germline" "" "rs61751374" "0" "" "" "g.94043413G>A" "" "pathogenic" ""
"0000732381" "0" "90" "1" "94467475" "94467475" "subst" "3.65542E-5" "00000" "ABCA4_000171" "g.94467475C>A" "" "{PMID:Sheremet 2017:28980559}" "" "G2074V" "" "Germline" "" "" "0" "" "" "g.94001919C>A" "" "pathogenic" ""
"0000732382" "0" "90" "1" "94495071" "94495071" "subst" "6.39479E-5" "00000" "ABCA4_000997" "g.94495071C>T" "" "{PMID:Sheremet 2017:28980559}" "" "G4469A" "" "Germline" "" "rs61751402" "0" "" "" "g.94029515C>T" "" "pathogenic" ""
"0000732383" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sheremet 2017:28980559}" "" "G5882A" "" "Germline" "" "rs1800553" "0" "" "" "g.94008251C>T" "" "pathogenic" ""
"0000732384" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "00000" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Sheremet 2017:28980559}" "" "C3113T" "" "Germline" "" "rs61751374" "0" "" "" "g.94043413G>A" "" "pathogenic" ""
"0000732385" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "00000" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Sheremet 2017:28980559}" "" "C3113T" "" "Germline" "" "rs61751374" "0" "" "" "g.94043413G>A" "" "pathogenic" ""
"0000732386" "0" "90" "1" "94528806" "94528806" "subst" "0.000150298" "00000" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Sheremet 2017:28980559}" "" "T1622C" "" "Germline" "" "rs61751392" "0" "" "" "g.94063250A>G" "" "pathogenic" ""
"0000732387" "0" "90" "1" "94506910" "94506910" "subst" "0" "00000" "ABCA4_001465" "g.94506910A>T" "" "{PMID:Sheremet 2017:28980559}" "" "T3377A" "" "Germline" "" "" "0" "" "" "g.94041354A>T" "" "pathogenic" ""
"0000732388" "0" "90" "1" "94506910" "94506910" "subst" "0" "00000" "ABCA4_001465" "g.94506910A>T" "" "{PMID:Sheremet 2017:28980559}" "" "T3377A" "" "Germline" "" "" "0" "" "" "g.94041354A>T" "" "pathogenic" ""
"0000732389" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "00000" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Sheremet 2017:28980559}" "" "C3113T" "" "Germline" "" "rs61751374" "0" "" "" "g.94043413G>A" "" "pathogenic" ""
"0000732394" "0" "90" "1" "94486896" "94486896" "subst" "3.65562E-5" "00000" "ABCA4_000085" "g.94486896G>A" "" "{PMID:Sheremet 2017:28980559}" "" "C4918T" "" "Germline" "" "rs61751404" "0" "" "" "g.94021340G>A" "" "pathogenic" ""
"0000732395" "0" "90" "1" "94480146" "94480146" "subst" "2.84273E-5" "00000" "ABCA4_000122" "g.94480146T>C" "" "{PMID:Sheremet 2017:28980559}" "" "A5413G" "" "Germline" "" "rs61753029" "0" "" "" "g.94014590T>C" "" "pathogenic" ""
"0000732396" "0" "90" "1" "94490605" "94490605" "subst" "0" "00000" "ABCA4_001458" "g.94490605C>T" "" "{PMID:Sheremet 2017:28980559}" "" "4540-1G>A" "" "Germline" "" "" "0" "" "" "g.94025049C>T" "" "pathogenic" ""
"0000732397" "0" "90" "1" "94528806" "94528806" "subst" "0.000150298" "00000" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Sheremet 2017:28980559}" "" "T1622C" "" "Germline" "" "rs61751392" "0" "" "" "g.94063250A>G" "" "pathogenic" ""
"0000732398" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "00000" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Sheremet 2017:28980559}" "" "C3113T" "" "Germline" "" "rs61751374" "0" "" "" "g.94043413G>A" "" "pathogenic" ""
"0000732399" "0" "90" "1" "94528806" "94528806" "subst" "0.000150298" "00000" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Sheremet 2017:28980559}" "" "T1622C" "" "Germline" "" "rs61751392" "0" "" "" "g.94063250A>G" "" "pathogenic" ""
"0000732400" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "00000" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Sheremet 2017:28980559}" "" "C3113T" "" "Germline" "" "rs61751374" "0" "" "" "g.94043413G>A" "" "pathogenic" ""
"0000732401" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "00000" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Sheremet 2017:28980559}" "" "G2588C" "" "Germline" "" "rs76157638" "0" "" "" "g.94051698C>G" "" "pathogenic" ""
"0000732402" "0" "90" "1" "94512565" "94512565" "subst" "0.030364" "00000" "ABCA4_000002" "g.94512565C>T" "" "{PMID:Sheremet 2017:28980559}" "" "G2828A" "" "Germline" "" "rs1801581" "0" "" "" "g.94047009C>T" "" "pathogenic" ""
"0000732403" "0" "90" "1" "94528806" "94528806" "subst" "0.000150298" "00000" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Sheremet 2017:28980559}" "" "T1622C" "" "Germline" "" "rs61751392" "0" "" "" "g.94063250A>G" "" "pathogenic" ""
"0000732404" "0" "90" "1" "94548998" "94548998" "subst" "0" "00000" "ABCA4_000362" "g.94548998C>A" "" "{PMID:Sheremet 2017:28980559}" "" "768-1G>T" "" "Germline" "" "rs62645944" "0" "" "" "g.94083442C>A" "" "pathogenic" ""
"0000732405" "0" "90" "1" "94528806" "94528806" "subst" "0.000150298" "00000" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Sheremet 2017:28980559}" "" "T1622C" "" "Germline" "" "rs61751392" "0" "" "" "g.94063250A>G" "" "pathogenic" ""
"0000732406" "0" "90" "1" "94564484" "94564484" "subst" "0.000110199" "00000" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Sheremet 2017:28980559}" "" "C634T" "" "Germline" "" "rs61750200" "0" "" "" "g.94098928G>A" "" "pathogenic" ""
"0000732407" "0" "90" "1" "94544906" "94544906" "subst" "4.06144E-6" "00000" "ABCA4_001478" "g.94544906G>C" "" "{PMID:Sheremet 2017:28980559}" "" "C1211G" "" "Germline" "" "rs150686179" "0" "" "" "g.94079350G>C" "" "pathogenic" ""
"0000732408" "0" "90" "1" "94528806" "94528806" "subst" "0.000150298" "00000" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Sheremet 2017:28980559}" "" "T1622C" "" "Germline" "" "rs61751392" "0" "" "" "g.94063250A>G" "" "pathogenic" ""
"0000732409" "0" "90" "1" "94528806" "94528806" "subst" "0.000150298" "00000" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Sheremet 2017:28980559}" "" "T1622C" "" "Germline" "" "rs61751392" "0" "" "" "g.94063250A>G" "" "pathogenic" ""
"0000732410" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "00000" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Sheremet 2017:28980559}" "" "C3113T" "" "Germline" "" "rs61751374" "0" "" "" "g.94043413G>A" "" "pathogenic" ""
"0000732411" "0" "90" "1" "94528806" "94528806" "subst" "0.000150298" "00000" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Sheremet 2017:28980559}" "" "T1622C" "" "Germline" "" "rs61751392" "0" "" "" "g.94063250A>G" "" "pathogenic" ""
"0000732412" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "00000" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Sheremet 2017:28980559}" "" "C3113T" "" "Germline" "" "rs61751374" "0" "" "" "g.94043413G>A" "" "pathogenic" ""
"0000732413" "0" "90" "1" "94528806" "94528806" "subst" "0.000150298" "00000" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Sheremet 2017:28980559}" "" "T1622C" "" "Germline" "" "rs61751392" "0" "" "" "g.94063250A>G" "" "pathogenic" ""
"0000732414" "0" "90" "1" "94490510" "94490510" "del" "0" "00000" "ABCA4_001457" "g.94490510del" "" "{PMID:Sheremet 2017:28980559}" "" "4634+1G>-" "" "Germline" "" "" "0" "" "" "g.94024954del" "" "pathogenic" ""
"0000732415" "0" "90" "1" "94528806" "94528806" "subst" "0.000150298" "00000" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Sheremet 2017:28980559}" "" "T1622C" "" "Germline" "" "rs61751392" "0" "" "" "g.94063250A>G" "" "pathogenic" ""
"0000732416" "0" "90" "1" "94490510" "94490510" "del" "0" "00000" "ABCA4_001457" "g.94490510del" "" "{PMID:Sheremet 2017:28980559}" "" "4634+1G>-" "" "Germline" "" "" "0" "" "" "g.94024954del" "" "pathogenic" ""
"0000732417" "0" "90" "1" "94528167" "94528167" "subst" "0" "00000" "ABCA4_000145" "g.94528167G>T" "" "{PMID:Sheremet 2017:28980559}" "" "C1903A" "" "Germline" "" "rs61749415" "0" "" "" "g.94062611G>T" "" "pathogenic" ""
"0000732418" "0" "90" "1" "94517216" "94517216" "subst" "0" "00000" "ABCA4_001429" "g.94517216G>A" "" "{PMID:Sheremet 2017:28980559}" "" "C2626T" "" "Germline" "" "" "0" "" "" "g.94051660G>A" "" "pathogenic" ""
"0000732419" "0" "90" "1" "94517216" "94517216" "subst" "0" "00000" "ABCA4_001429" "g.94517216G>A" "" "{PMID:Sheremet 2017:28980559}" "" "C2626T" "" "Germline" "" "" "0" "" "" "g.94051660G>A" "" "pathogenic" ""
"0000732420" "0" "90" "1" "94528806" "94528806" "subst" "0.000150298" "00000" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Sheremet 2017:28980559}" "" "T1622C" "" "Germline" "" "rs61751392" "0" "" "" "g.94063250A>G" "" "pathogenic" ""
"0000732421" "0" "90" "1" "94476351" "94476351" "subst" "0" "00000" "ABCA4_001450" "g.94476351C>A" "" "{PMID:Sheremet 2017:28980559}" "" "" "" "Germline" "" "" "0" "" "" "g.94010795C>A" "" "pathogenic" ""
"0000732427" "3" "90" "1" "94466638" "94466638" "subst" "2.8465E-5" "00000" "ABCA4_000841" "g.94466638G>T" "" "{PMID:Villanueva 2018:28945494}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94001082G>T" "" "pathogenic (recessive)" ""
"0000732451" "0" "50" "1" "94502755" "94502755" "subst" "0.000528202" "00000" "ABCA4_001223" "g.94502755C>T" "" "{PMID:Costa 2017:28912962}" "" "" "" "Germline" "" "" "0" "" "" "g.94037199C>T" "" "VUS" ""
"0000732459" "0" "50" "1" "94546104" "94546104" "subst" "0.00103684" "00000" "ABCA4_000941" "g.94546104A>G" "" "{PMID:Costa 2017:28912962}" "" "" "" "Germline" "" "" "0" "" "" "g.94080548A>G" "" "VUS" ""
"0000732552" "3" "50" "1" "94528266" "94528266" "subst" "4.477E-5" "00000" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Wang 2017:28838317}" "" "" "" "Germline" "" "" "0" "" "" "g.94062710G>A" "" "VUS" ""
"0000732583" "0" "50" "1" "94476351" "94476351" "subst" "0.000296608" "00000" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Wang 2017:28838317}" "" "IVS40+5G>A" "" "Germline" "" "" "0" "" "" "g.94010795C>T" "" "VUS" ""
"0000732584" "0" "50" "1" "94487490" "94487490" "subst" "0.00122268" "00000" "ABCA4_000506" "g.94487490A>G" "" "{PMID:Wang 2017:28838317}" "" "" "" "Germline" "" "" "0" "" "" "g.94021934A>G" "" "VUS" ""
"0000732623" "0" "90" "1" "94528818" "94528818" "subst" "0.00205975" "00000" "ABCA4_001239" "g.94528818C>T" "" "{PMID:Wang 2017:28838317}" "" "" "" "Germline" "" "" "0" "" "" "g.94063262C>T" "" "pathogenic" ""
"0000732626" "0" "90" "1" "94471055" "94471055" "subst" "0.00035346" "00000" "ABCA4_000029" "g.94471055C>T" "" "{PMID:Wang 2017:28838317}" "" "" "" "Germline" "" "rs61750641" "0" "" "" "g.94005499C>T" "" "pathogenic" ""
"0000732672" "1" "70" "1" "94496547" "94496547" "subst" "1.21904E-5" "00000" "ABCA4_000560" "g.94496547C>T" "" "{PMID:Soens 2017:28714225}" "" "" "effect on splicing predicted from mini-gene splicing assay" "Germline" "" "" "0" "" "" "g.94030991C>T" "" "likely pathogenic" ""
"0000732673" "1" "70" "1" "94476351" "94476351" "subst" "0.000296608" "00000" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Soens 2017:28714225}" "" "" "effect on splicing predicted from mini-gene splicing assay" "Germline" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic" ""
"0000732679" "1" "70" "1" "94473856" "94473856" "subst" "0" "00000" "ABCA4_000058" "g.94473856G>T" "" "{PMID:Soens 2017:28714225}" "" "" "" "Germline" "" "" "0" "" "" "g.94008300G>T" "" "likely pathogenic" ""
"0000732698" "2" "70" "1" "94528266" "94528266" "subst" "4.477E-5" "00000" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Soens 2017:28714225}" "" "" "" "Germline" "" "" "0" "" "" "g.94062710G>A" "" "likely pathogenic" ""
"0000732706" "2" "70" "1" "94487505" "94487505" "subst" "4.06349E-6" "00000" "ABCA4_000507" "g.94487505T>C" "" "{PMID:Soens 2017:28714225}" "" "" "" "Germline" "" "" "0" "" "" "g.94021949T>C" "" "likely pathogenic" ""
"0000732707" "2" "70" "1" "94564350" "94564350" "subst" "9.34268E-5" "00000" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Soens 2017:28714225}" "" "" "" "Germline" "" "" "0" "" "" "g.94098794C>A" "" "likely pathogenic" ""
"0000732714" "21" "90" "1" "94506901" "94506901" "subst" "0.000308665" "03971" "ABCA4_000054" "g.94506901C>A" "" "Mena et al., 2020 submitted." "" "" "" "Germline" "yes" "rs1801269" "" "" "" "" "" "pathogenic" "ACMG"
"0000732715" "10" "70" "1" "94473812" "94473812" "subst" "0" "03971" "ABCA4_001443" "g.94473812A>T" "" "Mena et al., 2020 submitted." "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic" "ACMG"
"0000732716" "10" "70" "1" "94510301" "94510301" "del" "0" "03971" "ABCA4_000675" "g.94510301del" "" "Mena et al., 2020 submitted" "" "" "." "Germline" "yes" "" "0" "" "" "g.94044745del" "" "pathogenic" "ACMG"
"0000732717" "21" "90" "1" "94476351" "94476351" "subst" "0.000296608" "03971" "ABCA4_000996" "g.94476351C>T" "" "Mena et al., 2020 submitted." "" "" "" "Germline" "yes" "rs61751407" "" "" "" "" "" "pathogenic" "ACMG"
"0000732718" "20" "70" "1" "94577136" "94577136" "subst" "0" "03971" "ABCA4_001444" "g.94577136C>A" "" "Mena et al., 2020 submitted." "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic" "ACMG"
"0000732719" "11" "70" "1" "94466452" "94466452" "subst" "4.06088E-6" "03971" "ABCA4_000822" "g.94466452A>T" "" "Mena et al., 2020 submitted." "" "" "" "Germline" "yes" "" "" "" "" "" "" "likely pathogenic" "ACMG"
"0000732721" "11" "70" "1" "94502899" "94502899" "del" "0" "03971" "ABCA4_000920" "g.94502899del" "" "Mena et al., 2020 submitted." "" "" "" "Germline" "yes" "" "0" "" "" "g.94037343del" "" "pathogenic" "ACMG"
"0000732722" "21" "90" "1" "94476351" "94476351" "subst" "0.000296608" "03971" "ABCA4_000996" "g.94476351C>T" "" "Mena et al., 2020 submitted." "gene panel (ABCA4, CNGB3, ELOVL4, PROM1)" "" "" "Germline" "yes" "rs61751407" "" "" "" "" "" "pathogenic" "ACMG"
"0000732723" "21" "70" "1" "94480241" "94480241" "del" "0" "03971" "ABCA4_001446" "g.94480241del" "" "Mena et al., 2020 submitted." "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "ACMG"
"0000732724" "11" "70" "1" "94502899" "94502899" "del" "0" "03971" "ABCA4_000920" "g.94502899del" "" "Mena et al., 2020 submitted" "" "" "" "Germline" "yes" "" "0" "" "" "g.94037343del" "" "pathogenic" "ACMG"
"0000732725" "0" "50" "1" "94528730" "94528730" "subst" "4.06171E-6" "03971" "ABCA4_001474" "g.94528730G>T" "" "Mena et al., 2020 submitted." "" "" "" "Germline" "?" "" "" "" "" "" "" "VUS" "ACMG"
"0000732726" "0" "70" "1" "94528165" "94528165" "subst" "0" "03971" "ABCA4_001472" "g.94528165C>A" "" "Mena et al., 2020 submitted." "" "" "" "Germline" "?" "" "" "" "" "" "" "likely pathogenic" "ACMG"
"0000732727" "0" "70" "1" "94508384" "94508384" "subst" "0" "03971" "ABCA4_000641" "g.94508384T>G" "" "Mena et al., 2020 submitted." "" "" "" "Germline" "?" "rs61752416" "" "" "" "" "" "likely pathogenic" "ACMG"
"0000732728" "0" "70" "1" "94497468" "94497468" "subst" "0" "03971" "ABCA4_000582" "g.94497468G>A" "" "Mena et al., 2020 submitted." "" "" "" "Germline" "?" "rs61752428" "" "" "" "" "" "pathogenic" "ACMG"
"0000732729" "0" "70" "1" "94490567" "94490567" "subst" "5.68528E-5" "03971" "ABCA4_000026" "g.94490567G>A" "" "Mena et al., 2020 submitted." "" "" "" "Germline" "?" "rs61750152" "" "" "" "" "" "pathogenic" "ACMG"
"0000732730" "0" "90" "1" "94476351" "94476351" "subst" "0.000296608" "03971" "ABCA4_000996" "g.94476351C>T" "" "Mena et al., 2020 submitted." "" "" "" "Germline" "?" "rs61751407" "" "" "" "" "" "pathogenic" "ACMG"
"0000732731" "0" "70" "1" "94509026" "94509026" "subst" "4.06497E-5" "03971" "ABCA4_000660" "g.94509026G>A" "" "Mena et al., 2020 submitted." "" "" "" "Germline" "?" "" "" "" "" "" "" "likely pathogenic" "ACMG"
"0000732732" "0" "70" "1" "94508435" "94508436" "dup" "0" "03971" "ABCA4_000998" "g.94508435_94508436dup" "" "Mena et al., 2020 submitted." "" "" "" "Germline" "?" "rs387906385" "0" "" "" "g.94042879_94042880dup" "" "pathogenic" "ACMG"
"0000732733" "0" "70" "1" "94510286" "94510286" "subst" "0" "03971" "ABCA4_000182" "g.94510286C>T" "" "Mena et al., 2020 submitted" "" "" "." "Germline" "?" "rs61749453" "" "" "" "" "" "likely pathogenic" "ACMG"
"0000732734" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "03971" "ABCA4_000046" "g.94473807C>T" "" "Mena et al., 2020 submitted." "" "" "" "Germline" "?" "rs1800553" "" "" "" "" "" "pathogenic" "ACMG"
"0000732735" "0" "70" "1" "94471055" "94471055" "subst" "0.00035346" "03971" "ABCA4_000029" "g.94471055C>T" "" "Mena et al., 2020 submitted." "" "" "" "Germline" "?" "rs61750641" "" "" "" "" "" "likely pathogenic" "ACMG"
"0000732736" "0" "70" "1" "94495983" "94495983" "subst" "8.12348E-6" "03971" "ABCA4_000547" "g.94495983C>T" "" "Mena et al., 2020 submitted." "" "" "" "Germline" "?" "" "" "" "" "" "" "pathogenic" "ACMG"
"0000732890" "1" "70" "1" "94508969" "94508969" "subst" "0.00168642" "00000" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Stone 2017:28559085}" "" "3113C>T/1622T>C" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "" "" "VUS" ""
"0000732891" "0" "70" "1" "94476951" "94476951" "subst" "0.000236097" "00000" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Stone 2017:28559085}" "" "IVS38-10 T>C" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.94011395A>G" "" "likely pathogenic" ""
"0000732892" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "00000" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Stone 2017:28559085}" "" "" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic" ""
"0000732893" "0" "70" "1" "94564350" "94564350" "subst" "9.34268E-5" "00000" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Stone 2017:28559085}" "" "" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.94098794C>A" "" "likely pathogenic" ""
"0000732894" "0" "70" "1" "94508323" "94508323" "subst" "0.000125953" "00000" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Stone 2017:28559085}" "" "" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.94042767G>A" "" "likely pathogenic" ""
"0000732895" "0" "70" "1" "94526212" "94526212" "subst" "1.22012E-5" "00000" "ABCA4_000075" "g.94526212G>A" "" "{PMID:Stone 2017:28559085}" "" "" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.94060656G>A" "" "likely pathogenic" ""
"0000732896" "0" "70" "1" "94486896" "94486896" "subst" "3.65562E-5" "00000" "ABCA4_000085" "g.94486896G>A" "" "{PMID:Stone 2017:28559085}" "" "" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.94021340G>A" "" "likely pathogenic" ""
"0000732897" "0" "70" "1" "94522239" "94522239" "subst" "2.03305E-5" "00000" "ABCA4_000736" "g.94522239A>T" "" "{PMID:Stone 2017:28559085}" "" "" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.94056683A>T" "" "likely pathogenic" ""
"0000732898" "0" "70" "1" "94522239" "94522239" "subst" "2.03305E-5" "00000" "ABCA4_000736" "g.94522239A>T" "" "{PMID:Stone 2017:28559085}" "" "" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.94056683A>T" "" "likely pathogenic" ""
"0000732899" "0" "70" "1" "94481294" "94481294" "subst" "0" "00000" "ABCA4_000110" "g.94481294C>T" "" "{PMID:Stone 2017:28559085}" "" "IVS37+1 G>A" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.94015738C>T" "" "likely pathogenic" ""
"0000732900" "0" "70" "1" "94466625" "94466625" "subst" "1.62559E-5" "00000" "ABCA4_000839" "g.94466625G>A" "" "{PMID:Stone 2017:28559085}" "" "" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.94001069G>A" "" "likely pathogenic" ""
"0000732901" "0" "70" "1" "94526296" "94526296" "subst" "1.64555E-5" "00000" "ABCA4_000768" "g.94526296G>A" "" "{PMID:Stone 2017:28559085}" "" "" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.94060740G>A" "" "likely pathogenic" ""
"0000732902" "0" "70" "1" "94496010" "94496010" "subst" "1.62434E-5" "00000" "ABCA4_000549" "g.94496010G>T" "" "{PMID:Stone 2017:28559085}" "" "" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.94030454G>T" "" "likely pathogenic" ""
"0000732903" "0" "70" "1" "94490550" "94490550" "subst" "0.000105588" "00000" "ABCA4_000523" "g.94490550C>T" "" "{PMID:Stone 2017:28559085}" "" "" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.94024994C>T" "" "likely pathogenic" ""
"0000732904" "0" "70" "1" "94528167" "94528167" "subst" "0" "00000" "ABCA4_000268" "g.94528167G>A" "" "{PMID:Stone 2017:28559085}" "" "" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.94062611G>A" "" "likely pathogenic" ""
"0000732905" "0" "70" "1" "94544249" "94544249" "subst" "8.12196E-6" "00000" "ABCA4_000323" "g.94544249A>G" "" "{PMID:Stone 2017:28559085}" "" "" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.94078693A>G" "" "likely pathogenic" ""
"0000732906" "0" "70" "1" "94506859" "94506859" "subst" "8.12163E-6" "00000" "ABCA4_001464" "g.94506859G>T" "" "{PMID:Stone 2017:28559085}" "" "" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.94041303G>T" "" "likely pathogenic" ""
"0000732907" "0" "70" "1" "94496574" "94496577" "dup" "0" "00000" "ABCA4_001461" "g.94496574_94496577dup" "" "{PMID:Stone 2017:28559085}" "" "4227_4228insTATG" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.94031018_94031021dup" "" "likely pathogenic" ""
"0000732908" "0" "70" "1" "94485159" "94485159" "dup" "0" "00000" "ABCA4_001453" "g.94485159dup" "" "{PMID:Stone 2017:28559085}" "" "5174_5175insG" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.94019603dup" "" "likely pathogenic" ""
"0000732909" "0" "70" "1" "94528774" "94528774" "subst" "0.00264827" "00000" "ABCA4_000298" "g.94528774C>T" "" "{PMID:Stone 2017:28559085}" "" "" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.94063218C>T" "" "likely pathogenic" ""
"0000732935" "0" "70" "1" "94564350" "94564350" "subst" "9.34268E-5" "00000" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Stone 2017:28559085}" "" "" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.94098794C>A" "" "likely pathogenic" ""
"0000732936" "0" "70" "1" "94512499" "94512499" "subst" "0.000130029" "00000" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Stone 2017:28559085}" "" "" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.94046943T>C" "" "likely pathogenic" ""
"0000732937" "0" "70" "1" "94544158" "94544158" "del" "0" "00000" "ABCA4_000315" "g.94544158del" "" "{PMID:Stone 2017:28559085}" "" "1344delG" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.94078602del" "" "likely pathogenic" ""
"0000733023" "1" "50" "1" "94528806" "94528806" "subst" "0.000150298" "00006" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Stone 2017:28559085}" "" "3113C>T/1622T>C" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "" "" "VUS" ""
"0000733349" "1" "70" "1" "94508969" "94508969" "subst" "0.00168642" "00000" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic" ""
"0000733350" "1" "70" "1" "94508969" "94508969" "subst" "0.00168642" "00000" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic" ""
"0000733351" "1" "70" "1" "94508969" "94508969" "subst" "0.00168642" "00000" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic" ""
"0000733352" "1" "70" "1" "94508969" "94508969" "subst" "0.00168642" "00000" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic" ""
"0000733353" "1" "70" "1" "94508969" "94508969" "subst" "0.00168642" "00000" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic" ""
"0000733354" "1" "70" "1" "94508969" "94508969" "subst" "0.00168642" "00000" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic" ""
"0000733355" "1" "70" "1" "94508969" "94508969" "subst" "0.00168642" "00000" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic" ""
"0000733356" "0" "70" "1" "94508969" "94508969" "subst" "0.00168642" "00000" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic" ""
"0000733357" "1" "70" "1" "94508969" "94508969" "subst" "0.00168642" "00000" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic" ""
"0000733358" "1" "70" "1" "94508969" "94508969" "subst" "0.00168642" "00000" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Stone 2017:28559085}" "" "3113C>T/2560G>A" "" "Germline" "" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic" ""
"0000733359" "1" "70" "1" "94508969" "94508969" "subst" "0.00168642" "00000" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Stone 2017:28559085}" "" "3113C>T/2560G>A" "" "Germline" "" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic" ""
"0000733360" "1" "70" "1" "94508969" "94508969" "subst" "0.00168642" "00000" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Stone 2017:28559085}" "" "3113C>T/1622T>C" "" "Germline" "" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic" ""
"0000733361" "1" "70" "1" "94508969" "94508969" "subst" "0.00168642" "00000" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Stone 2017:28559085}" "" "3113C>T/1622T>C" "" "Germline" "" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic" ""
"0000733362" "1" "70" "1" "94508969" "94508969" "subst" "0.00168642" "00000" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Stone 2017:28559085}" "" "3113C>T/1622T>C" "" "Germline" "" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic" ""
"0000733363" "1" "70" "1" "94508969" "94508969" "subst" "0.00168642" "00000" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Stone 2017:28559085}" "" "3113C>T/1622T>C" "" "Germline" "" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic" ""
"0000733364" "1" "70" "1" "94508969" "94508969" "subst" "0.00168642" "00000" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Stone 2017:28559085}" "" "3113C>T/1622T>C" "" "Germline" "" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic" ""
"0000733365" "1" "70" "1" "94508969" "94508969" "subst" "0.00168642" "00000" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Stone 2017:28559085}" "" "3113C>T/1622T>C" "" "Germline" "" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic" ""
"0000733366" "1" "70" "1" "94508969" "94508969" "subst" "0.00168642" "00000" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Stone 2017:28559085}" "" "3113C>T/1622T>C" "" "Germline" "" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic" ""
"0000733367" "1" "70" "1" "94508969" "94508969" "subst" "0.00168642" "00000" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Stone 2017:28559085}" "" "3113C>T/1622T>C" "" "Germline" "" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic" ""
"0000733368" "1" "70" "1" "94508969" "94508969" "subst" "0.00168642" "00000" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Stone 2017:28559085}" "" "3113C>T/1622T>C" "" "Germline" "" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic" ""
"0000733369" "1" "70" "1" "94508969" "94508969" "subst" "0.00168642" "00000" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Stone 2017:28559085}" "" "3113C>T/1622T>C" "" "Germline" "" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic" ""
"0000733370" "1" "70" "1" "94508969" "94508969" "subst" "0.00168642" "00000" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Stone 2017:28559085}" "" "3113C>T/1622T>C" "" "Germline" "" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic" ""
"0000733371" "1" "70" "1" "94476951" "94476951" "subst" "0.000236097" "00000" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Stone 2017:28559085}" "" "IVS38-10T>C" "" "Germline" "" "" "0" "" "" "g.94011395A>G" "" "likely pathogenic" ""
"0000733372" "1" "70" "1" "94476951" "94476951" "subst" "0.000236097" "00000" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Stone 2017:28559085}" "" "IVS38-10T>C" "" "Germline" "" "" "0" "" "" "g.94011395A>G" "" "likely pathogenic" ""
"0000733373" "1" "70" "1" "94476951" "94476951" "subst" "0.000236097" "00000" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Stone 2017:28559085}" "" "IVS38-10T>C" "" "Germline" "" "" "0" "" "" "g.94011395A>G" "" "likely pathogenic" ""
"0000733374" "1" "70" "1" "94476951" "94476951" "subst" "0.000236097" "00000" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Stone 2017:28559085}" "" "IVS38-10T>C" "" "Germline" "" "" "0" "" "" "g.94011395A>G" "" "likely pathogenic" ""
"0000733375" "1" "70" "1" "94476951" "94476951" "subst" "0.000236097" "00000" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Stone 2017:28559085}" "" "IVS38-10T>C" "" "Germline" "" "" "0" "" "" "g.94011395A>G" "" "likely pathogenic" ""
"0000733376" "1" "70" "1" "94476951" "94476951" "subst" "0.000236097" "00000" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Stone 2017:28559085}" "" "IVS38-10T>C" "" "Germline" "" "" "0" "" "" "g.94011395A>G" "" "likely pathogenic" ""
"0000733377" "1" "70" "1" "94476951" "94476951" "subst" "0.000236097" "00000" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Stone 2017:28559085}" "" "IVS38-10T>C" "" "Germline" "" "" "0" "" "" "g.94011395A>G" "" "likely pathogenic" ""
"0000733378" "1" "70" "1" "94476951" "94476951" "subst" "0.000236097" "00000" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Stone 2017:28559085}" "" "IVS38-10T>C" "" "Germline" "" "" "0" "" "" "g.94011395A>G" "" "likely pathogenic" ""
"0000733379" "1" "70" "1" "94476951" "94476951" "subst" "0.000236097" "00000" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Stone 2017:28559085}" "" "IVS38-10T>C" "" "Germline" "" "" "0" "" "" "g.94011395A>G" "" "likely pathogenic" ""
"0000733380" "1" "70" "1" "94476951" "94476951" "subst" "0.000236097" "00000" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Stone 2017:28559085}" "" "IVS38-10T>C" "" "Germline" "" "" "0" "" "" "g.94011395A>G" "" "likely pathogenic" ""
"0000733381" "1" "70" "1" "94476951" "94476951" "subst" "0.000236097" "00000" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Stone 2017:28559085}" "" "IVS38-10T>C" "" "Germline" "" "" "0" "" "" "g.94011395A>G" "" "likely pathogenic" ""
"0000733382" "1" "70" "1" "94476951" "94476951" "subst" "0.000236097" "00000" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Stone 2017:28559085}" "" "IVS38-10T>C" "" "Germline" "" "" "0" "" "" "g.94011395A>G" "" "likely pathogenic" ""
"0000733383" "1" "70" "1" "94476951" "94476951" "subst" "0.000236097" "00000" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Stone 2017:28559085}" "" "IVS38-10T>C" "" "Germline" "" "" "0" "" "" "g.94011395A>G" "" "likely pathogenic" ""
"0000733384" "1" "70" "1" "94476951" "94476951" "subst" "0.000236097" "00000" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Stone 2017:28559085}" "" "IVS38-10T>C" "" "Germline" "" "" "0" "" "" "g.94011395A>G" "" "likely pathogenic" ""
"0000733385" "1" "70" "1" "94476951" "94476951" "subst" "0.000236097" "00000" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Stone 2017:28559085}" "" "IVS38-10T>C" "" "Germline" "" "" "0" "" "" "g.94011395A>G" "" "likely pathogenic" ""
"0000733386" "1" "70" "1" "94476951" "94476951" "subst" "0.000236097" "00000" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Stone 2017:28559085}" "" "IVS38-10T>C" "" "Germline" "" "" "0" "" "" "g.94011395A>G" "" "likely pathogenic" ""
"0000733387" "1" "70" "1" "94476951" "94476951" "subst" "0.000236097" "00000" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Stone 2017:28559085}" "" "IVS38-10T>C" "" "Germline" "" "" "0" "" "" "g.94011395A>G" "" "likely pathogenic" ""
"0000733388" "1" "70" "1" "94476951" "94476951" "subst" "0.000236097" "00000" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Stone 2017:28559085}" "" "IVS38-10T>C" "" "Germline" "" "" "0" "" "" "g.94011395A>G" "" "likely pathogenic" ""
"0000733389" "1" "70" "1" "94476951" "94476951" "subst" "0.000236097" "00000" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Stone 2017:28559085}" "" "IVS38-10T>C" "" "Germline" "" "" "0" "" "" "g.94011395A>G" "" "likely pathogenic" ""
"0000733390" "1" "70" "1" "94476951" "94476951" "subst" "0.000236097" "00000" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Stone 2017:28559085}" "" "IVS38-10T>C" "" "Germline" "" "" "0" "" "" "g.94011395A>G" "" "likely pathogenic" ""
"0000733391" "3" "70" "1" "94476951" "94476951" "subst" "0.000236097" "00000" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Stone 2017:28559085}" "" "IVS38-10T>C" "" "Germline" "" "" "0" "" "" "g.94011395A>G" "" "likely pathogenic" ""
"0000733392" "1" "70" "1" "94476951" "94476951" "subst" "0.000236097" "00000" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Stone 2017:28559085}" "" "IVS38-10T>C" "" "Germline" "" "" "0" "" "" "g.94011395A>G" "" "likely pathogenic" ""
"0000733393" "1" "70" "1" "94476951" "94476951" "subst" "0.000236097" "00000" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Stone 2017:28559085}" "" "IVS38-10T>C" "" "Germline" "" "" "0" "" "" "g.94011395A>G" "" "likely pathogenic" ""
"0000733394" "1" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000733395" "1" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000733396" "1" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000733397" "1" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000733398" "1" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000733399" "1" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000733400" "1" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000733401" "1" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000733402" "1" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000733403" "1" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000733404" "1" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000733405" "1" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000733406" "1" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000733407" "1" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000733408" "1" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000733409" "1" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000733410" "3" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Stone 2017:28559085}" "" "5882G>A/634C>T" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000733411" "1" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Stone 2017:28559085}" "" "5882G>A/2042G>A" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000733412" "1" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Stone 2017:28559085}" "" "5882G>A/3799A>G" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000733413" "1" "70" "1" "94517254" "94517254" "subst" "0.00442654" "00000" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic" ""
"0000733414" "1" "70" "1" "94517254" "94517254" "subst" "0.00442654" "00000" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic" ""
"0000733415" "1" "70" "1" "94517254" "94517254" "subst" "0.00442654" "00000" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic" ""
"0000733416" "1" "70" "1" "94517254" "94517254" "subst" "0.00442654" "00000" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic" ""
"0000733417" "1" "70" "1" "94517254" "94517254" "subst" "0.00442654" "00000" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic" ""
"0000733418" "1" "70" "1" "94517254" "94517254" "subst" "0.00442654" "00000" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic" ""
"0000733419" "1" "70" "1" "94517254" "94517254" "subst" "0.00442654" "00000" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic" ""
"0000733420" "1" "70" "1" "94517254" "94517254" "subst" "0.00442654" "00000" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic" ""
"0000733421" "1" "70" "1" "94517254" "94517254" "subst" "0.00442654" "00000" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic" ""
"0000733422" "1" "70" "1" "94517254" "94517254" "subst" "0.00442654" "00000" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic" ""
"0000733423" "1" "70" "1" "94517254" "94517254" "subst" "0.00442654" "00000" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic" ""
"0000733424" "1" "70" "1" "94517254" "94517254" "subst" "0.00442654" "00000" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic" ""
"0000733425" "1" "70" "1" "94517254" "94517254" "subst" "0.00442654" "00000" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic" ""
"0000733426" "1" "70" "1" "94517254" "94517254" "subst" "0.00442654" "00000" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic" ""
"0000733427" "1" "70" "1" "94517254" "94517254" "subst" "0.00442654" "00000" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic" ""
"0000733428" "1" "70" "1" "94517254" "94517254" "subst" "0.00442654" "00000" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic" ""
"0000733429" "1" "70" "1" "94496666" "94496666" "subst" "0.000219568" "00000" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic" ""
"0000733430" "1" "70" "1" "94496666" "94496666" "subst" "0.000219568" "00000" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic" ""
"0000733431" "1" "70" "1" "94496666" "94496666" "subst" "0.000219568" "00000" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic" ""
"0000733432" "1" "70" "1" "94496666" "94496666" "subst" "0.000219568" "00000" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic" ""
"0000733433" "1" "70" "1" "94496666" "94496666" "subst" "0.000219568" "00000" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic" ""
"0000733434" "1" "70" "1" "94496666" "94496666" "subst" "0.000219568" "00000" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic" ""
"0000733435" "1" "70" "1" "94496666" "94496666" "subst" "0.000219568" "00000" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic" ""
"0000733436" "1" "70" "1" "94496666" "94496666" "subst" "0.000219568" "00000" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic" ""
"0000733437" "1" "70" "1" "94496666" "94496666" "subst" "0.000219568" "00000" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic" ""
"0000733438" "1" "70" "1" "94476351" "94476351" "subst" "0.000296608" "00000" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Stone 2017:28559085}" "" "IVS40+5G>A" "" "Germline" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic" ""
"0000733439" "1" "70" "1" "94476351" "94476351" "subst" "0.000296608" "00000" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Stone 2017:28559085}" "" "IVS40+5G>A" "" "Germline" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic" ""
"0000733440" "1" "70" "1" "94476351" "94476351" "subst" "0.000296608" "00000" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Stone 2017:28559085}" "" "IVS40+5G>A" "" "Germline" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic" ""
"0000733441" "1" "70" "1" "94476351" "94476351" "subst" "0.000296608" "00000" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Stone 2017:28559085}" "" "IVS40+5G>A" "" "Germline" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic" ""
"0000733442" "1" "70" "1" "94476351" "94476351" "subst" "0.000296608" "00000" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Stone 2017:28559085}" "" "IVS40+5G>A" "" "Germline" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic" ""
"0000733443" "1" "70" "1" "94476351" "94476351" "subst" "0.000296608" "00000" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Stone 2017:28559085}" "" "IVS40+5G>A" "" "Germline" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic" ""
"0000733444" "1" "70" "1" "94476351" "94476351" "subst" "0.000296608" "00000" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Stone 2017:28559085}" "" "IVS40+5G>A" "" "Germline" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic" ""
"0000733445" "1" "70" "1" "94564350" "94564350" "subst" "9.34268E-5" "00000" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94098794C>A" "" "likely pathogenic" ""
"0000733446" "1" "70" "1" "94564350" "94564350" "subst" "9.34268E-5" "00000" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94098794C>A" "" "likely pathogenic" ""
"0000733447" "1" "70" "1" "94564350" "94564350" "subst" "9.34268E-5" "00000" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94098794C>A" "" "likely pathogenic" ""
"0000733448" "1" "70" "1" "94564350" "94564350" "subst" "9.34268E-5" "00000" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94098794C>A" "" "likely pathogenic" ""
"0000733449" "1" "70" "1" "94564350" "94564350" "subst" "9.34268E-5" "00000" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94098794C>A" "" "likely pathogenic" ""
"0000733450" "1" "70" "1" "94471065" "94471065" "subst" "0.000194997" "00000" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic" ""
"0000733451" "1" "70" "1" "94471065" "94471065" "subst" "0.000194997" "00000" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic" ""
"0000733452" "1" "70" "1" "94471065" "94471065" "subst" "0.000194997" "00000" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic" ""
"0000733453" "1" "70" "1" "94471065" "94471065" "subst" "0.000194997" "00000" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic" ""
"0000733454" "1" "70" "1" "94508323" "94508323" "subst" "0.000125953" "00000" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94042767G>A" "" "likely pathogenic" ""
"0000733455" "1" "70" "1" "94508323" "94508323" "subst" "0.000125953" "00000" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94042767G>A" "" "likely pathogenic" ""
"0000733456" "1" "70" "1" "94508323" "94508323" "subst" "0.000125953" "00000" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94042767G>A" "" "likely pathogenic" ""
"0000733457" "1" "70" "1" "94512499" "94512499" "subst" "0.000130029" "00000" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94046943T>C" "" "likely pathogenic" ""
"0000733458" "1" "70" "1" "94512499" "94512499" "subst" "0.000130029" "00000" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94046943T>C" "" "likely pathogenic" ""
"0000733459" "1" "70" "1" "94512499" "94512499" "subst" "0.000130029" "00000" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94046943T>C" "" "likely pathogenic" ""
"0000733460" "1" "70" "1" "94512499" "94512499" "subst" "0.000130029" "00000" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94046943T>C" "" "likely pathogenic" ""
"0000733461" "1" "70" "1" "94512499" "94512499" "subst" "0.000130029" "00000" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94046943T>C" "" "likely pathogenic" ""
"0000733462" "1" "70" "1" "94493680" "94493680" "subst" "0" "00000" "ABCA4_001459" "g.94493680T>C" "" "{PMID:Stone 2017:28559085}" "" "IVS30+1321A>G" "" "Germline" "" "" "0" "" "" "g.94028124T>C" "" "likely pathogenic" ""
"0000733463" "1" "70" "1" "94526212" "94526212" "subst" "1.22012E-5" "00000" "ABCA4_000075" "g.94526212G>A" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94060656G>A" "" "likely pathogenic" ""
"0000733464" "1" "70" "1" "94526212" "94526212" "subst" "1.22012E-5" "00000" "ABCA4_000075" "g.94526212G>A" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94060656G>A" "" "likely pathogenic" ""
"0000733465" "1" "70" "1" "94526212" "94526212" "subst" "1.22012E-5" "00000" "ABCA4_000075" "g.94526212G>A" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94060656G>A" "" "likely pathogenic" ""
"0000733466" "1" "70" "1" "94486896" "94486896" "subst" "3.65562E-5" "00000" "ABCA4_000085" "g.94486896G>A" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94021340G>A" "" "likely pathogenic" ""
"0000733467" "1" "70" "1" "94484001" "94484001" "subst" "0" "00000" "ABCA4_000016" "g.94484001C>T" "" "{PMID:Stone 2017:28559085}" "" "IVS36+1137G>A" "" "Germline" "" "" "0" "" "" "g.94018445C>T" "" "likely pathogenic" ""
"0000733468" "1" "70" "1" "94484001" "94484001" "subst" "0" "00000" "ABCA4_000016" "g.94484001C>T" "" "{PMID:Stone 2017:28559085}" "" "IVS36+1137G>A" "" "Germline" "" "" "0" "" "" "g.94018445C>T" "" "likely pathogenic" ""
"0000733469" "1" "70" "1" "94484001" "94484001" "subst" "0" "00000" "ABCA4_000016" "g.94484001C>T" "" "{PMID:Stone 2017:28559085}" "" "IVS36+1137G>A" "" "Germline" "" "" "0" "" "" "g.94018445C>T" "" "likely pathogenic" ""
"0000733470" "0" "70" "1" "94522239" "94522239" "subst" "2.03305E-5" "00000" "ABCA4_000736" "g.94522239A>T" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94056683A>T" "" "likely pathogenic" ""
"0000733471" "1" "70" "1" "94476377" "94476377" "subst" "0.00160473" "00000" "ABCA4_000411" "g.94476377C>T" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94010821C>T" "" "likely pathogenic" ""
"0000733472" "1" "70" "1" "94476377" "94476377" "subst" "0.00160473" "00000" "ABCA4_000411" "g.94476377C>T" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94010821C>T" "" "likely pathogenic" ""
"0000733473" "1" "70" "1" "94471055" "94471055" "subst" "0.00035346" "00000" "ABCA4_000029" "g.94471055C>T" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94005499C>T" "" "likely pathogenic" ""
"0000733474" "1" "70" "1" "94471055" "94471055" "subst" "0.00035346" "00000" "ABCA4_000029" "g.94471055C>T" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94005499C>T" "" "likely pathogenic" ""
"0000733475" "1" "70" "1" "94481294" "94481294" "subst" "0" "00000" "ABCA4_000110" "g.94481294C>T" "" "{PMID:Stone 2017:28559085}" "" "IVS37+1G>A" "" "Germline" "" "" "0" "" "" "g.94015738C>T" "" "likely pathogenic" ""
"0000733476" "1" "70" "1" "94546118" "94546118" "subst" "8.13326E-6" "00000" "ABCA4_000082" "g.94546118A>C" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94080562A>C" "" "likely pathogenic" ""
"0000733477" "1" "70" "1" "94546118" "94546118" "subst" "8.13326E-6" "00000" "ABCA4_000082" "g.94546118A>C" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94080562A>C" "" "likely pathogenic" ""
"0000733478" "1" "70" "1" "94497338" "94497338" "subst" "4.09836E-6" "00000" "ABCA4_001462" "g.94497338G>T" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94031782G>T" "" "likely pathogenic" ""
"0000733479" "1" "70" "1" "94577117" "94577117" "subst" "1.62472E-5" "00000" "ABCA4_000237" "g.94577117G>A" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94111561G>A" "" "likely pathogenic" ""
"0000733480" "1" "70" "1" "94508353" "94508353" "subst" "2.8431E-5" "00000" "ABCA4_000141" "g.94508353G>A" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94042797G>A" "" "likely pathogenic" ""
"0000733481" "1" "70" "1" "94480100" "94480100" "subst" "8.1217E-6" "00000" "ABCA4_000438" "g.94480100C>G" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94014544C>G" "" "likely pathogenic" ""
"0000733482" "1" "70" "1" "94471055" "94471055" "subst" "0.00035346" "00000" "ABCA4_000029" "g.94471055C>T" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94005499C>T" "" "likely pathogenic" ""
"0000733483" "1" "70" "1" "94526296" "94526296" "subst" "1.64555E-5" "00000" "ABCA4_000768" "g.94526296G>A" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94060740G>A" "" "likely pathogenic" ""
"0000733484" "1" "70" "1" "94466638" "94466638" "del" "0" "00000" "ABCA4_001447" "g.94466638del" "" "{PMID:Stone 2017:28559085}" "" "6306delC" "" "Germline" "" "" "0" "" "" "g.94001082del" "" "likely pathogenic" ""
"0000733485" "1" "70" "1" "94463568" "94463603" "del" "0" "00000" "ABCA4_000805" "g.94463568_94463603del" "" "{PMID:Stone 2017:28559085}" "" "6543_6578delCCTGAACCCTGTGGAGCAGTTCTTCCAGGGGAACTT" "" "Germline" "" "" "0" "" "" "g.93998012_93998047del" "" "likely pathogenic" ""
"0000733486" "1" "70" "1" "94528137" "94528137" "subst" "2.03363E-5" "00000" "ABCA4_000774" "g.94528137C>T" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94062581C>T" "" "likely pathogenic" ""
"0000733487" "1" "70" "1" "94495002" "94495002" "subst" "0" "00000" "ABCA4_000533" "g.94495002T>C" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94029446T>C" "" "likely pathogenic" ""
"0000733488" "3" "70" "1" "94508386" "94508386" "subst" "1.62443E-5" "00000" "ABCA4_000642" "g.94508386C>T" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94042830C>T" "" "likely pathogenic" ""
"0000733489" "1" "70" "1" "94487499" "94487499" "subst" "0" "00000" "ABCA4_001456" "g.94487499C>T" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94021943C>T" "" "likely pathogenic" ""
"0000733490" "1" "70" "1" "94520872" "94520872" "subst" "0" "00000" "ABCA4_001468" "g.94520872C>T" "" "{PMID:Stone 2017:28559085}" "" "IVS15-1G>A" "" "Germline" "" "" "0" "" "" "g.94055316C>T" "" "likely pathogenic" ""
"0000733491" "1" "70" "1" "94467467" "94467467" "subst" "4.06164E-6" "00000" "ABCA4_000780" "g.94467467G>A" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94001911G>A" "" "likely pathogenic" ""
"0000733492" "3" "70" "1" "94522274" "94522274" "subst" "0" "00000" "ABCA4_001470" "g.94522274G>C" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94056718G>C" "" "likely pathogenic" ""
"0000733493" "1" "70" "1" "94495083" "94495083" "subst" "0.000124542" "00000" "ABCA4_000542" "g.94495083G>A" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94029527G>A" "" "likely pathogenic" ""
"0000733494" "1" "70" "1" "94508358" "94508358" "subst" "4.06167E-6" "00000" "ABCA4_000636" "g.94508358G>A" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94042802G>A" "" "likely pathogenic" ""
"0000733504" "1" "70" "1" "94508969" "94508969" "subst" "0.00168642" "00000" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic" ""
"0000733505" "1" "70" "1" "94508969" "94508969" "subst" "0.00168642" "00000" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic" ""
"0000733506" "1" "70" "1" "94508969" "94508969" "subst" "0.00168642" "00000" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic" ""
"0000733507" "1" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000733727" "2" "70" "1" "94528248" "94528248" "subst" "1.22148E-5" "00000" "ABCA4_000279" "g.94528248A>T" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94062692A>T" "" "likely pathogenic" ""
"0000733728" "2" "70" "1" "94528248" "94528248" "subst" "1.22148E-5" "00000" "ABCA4_000279" "g.94528248A>T" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94062692A>T" "" "likely pathogenic" ""
"0000733729" "2" "70" "1" "94526212" "94526212" "subst" "1.22012E-5" "00000" "ABCA4_000075" "g.94526212G>A" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94060656G>A" "" "likely pathogenic" ""
"0000733730" "2" "70" "1" "94476848" "94476848" "subst" "0" "00000" "ABCA4_001451" "g.94476848G>A" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94011292G>A" "" "likely pathogenic" ""
"0000733731" "2" "70" "1" "94577102" "94577102" "subst" "4.06161E-6" "00000" "ABCA4_000033" "g.94577102C>T" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94111546C>T" "" "likely pathogenic" ""
"0000733732" "2" "70" "1" "94484082" "94484082" "subst" "0" "00000" "ABCA4_000028" "g.94484082T>C" "" "{PMID:Stone 2017:28559085}" "" "IVS36+1056A>G" "" "Germline" "" "" "0" "" "" "g.94018526T>C" "" "likely pathogenic" ""
"0000733733" "2" "70" "1" "94476351" "94476351" "subst" "0.000296608" "00000" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Stone 2017:28559085}" "" "IVS40+5G>A" "" "Germline" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic" ""
"0000733734" "0" "70" "1" "94546261" "94546261" "subst" "0.000648567" "00000" "ABCA4_000353" "g.94546261G>A" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94080705G>A" "" "likely pathogenic" ""
"0000733735" "2" "70" "1" "94546118" "94546118" "subst" "8.13326E-6" "00000" "ABCA4_000082" "g.94546118A>C" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94080562A>C" "" "likely pathogenic" ""
"0000733736" "2" "70" "1" "94508323" "94508323" "subst" "0.000125953" "00000" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94042767G>A" "" "likely pathogenic" ""
"0000733737" "2" "70" "1" "94517254" "94517254" "subst" "0.00442654" "00000" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Stone 2017:28559085}" "" "2588G>C/1715G>A" "" "Germline" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic" ""
"0000733738" "2" "70" "1" "94528806" "94528806" "subst" "0.000150298" "00000" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000733739" "2" "70" "1" "94466426" "94466426" "subst" "1.62433E-5" "00000" "ABCA4_000124" "g.94466426G>A" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94000870G>A" "" "likely pathogenic" ""
"0000733740" "2" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000733741" "2" "70" "1" "94517254" "94517254" "subst" "0.00442654" "00000" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic" ""
"0000733742" "2" "70" "1" "94496580" "94496580" "subst" "0" "00000" "ABCA4_000564" "g.94496580T>C" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94031024T>C" "" "likely pathogenic" ""
"0000733743" "2" "70" "1" "94578623" "94578623" "subst" "0" "00000" "ABCA4_001481" "g.94578623C>G" "" "{PMID:Stone 2017:28559085}" "" "IVS1-1G>C" "" "Germline" "" "" "0" "" "" "g.94113067C>G" "" "likely pathogenic" ""
"0000733744" "2" "70" "1" "94493680" "94493680" "subst" "0" "00000" "ABCA4_001459" "g.94493680T>C" "" "{PMID:Stone 2017:28559085}" "" "IVS30+1321A>G" "" "Germline" "" "" "0" "" "" "g.94028124T>C" "" "likely pathogenic" ""
"0000733745" "2" "70" "1" "94487399" "94487399" "subst" "7.30959E-5" "00000" "ABCA4_000038" "g.94487399T>C" "" "{PMID:Stone 2017:28559085}" "" "IVS33+3A>G" "" "Germline" "" "" "0" "" "" "g.94021843T>C" "" "likely pathogenic" ""
"0000733746" "2" "70" "1" "94483922" "94483922" "subst" "0" "00000" "ABCA4_000027" "g.94483922G>T" "" "{PMID:Stone 2017:28559085}" "" "IVS36+1216C>A" "" "Germline" "" "" "0" "" "" "g.94018366G>T" "" "likely pathogenic" ""
"0000733747" "2" "70" "1" "94476351" "94476351" "subst" "0.000296608" "00000" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Stone 2017:28559085}" "" "IVS40+5G>A" "" "Germline" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic" ""
"0000733748" "2" "70" "1" "94485269" "94485269" "subst" "0" "00000" "ABCA4_000146" "g.94485269A>G" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94019713A>G" "" "likely pathogenic" ""
"0000733749" "2" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000733750" "2" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000733751" "2" "70" "1" "94517254" "94517254" "subst" "0.00442654" "00000" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic" ""
"0000733752" "2" "70" "1" "94517254" "94517254" "subst" "0.00442654" "00000" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic" ""
"0000733753" "2" "70" "1" "94493680" "94493680" "subst" "0" "00000" "ABCA4_001459" "g.94493680T>C" "" "{PMID:Stone 2017:28559085}" "" "IVS30+1321A>G" "" "Germline" "" "" "0" "" "" "g.94028124T>C" "" "likely pathogenic" ""
"0000733754" "2" "70" "1" "94493680" "94493680" "subst" "0" "00000" "ABCA4_001459" "g.94493680T>C" "" "{PMID:Stone 2017:28559085}" "" "IVS30+1321A>G" "" "Germline" "" "" "0" "" "" "g.94028124T>C" "" "likely pathogenic" ""
"0000733755" "2" "70" "1" "94492973" "94492973" "subst" "0" "00000" "ABCA4_000030" "g.94492973G>A" "" "{PMID:Stone 2017:28559085}" "" "IVS30+2028C>T" "" "Germline" "" "" "0" "" "" "g.94027417G>A" "" "likely pathogenic" ""
"0000733756" "2" "70" "1" "94492973" "94492973" "subst" "0" "00000" "ABCA4_000030" "g.94492973G>A" "" "{PMID:Stone 2017:28559085}" "" "IVS30+2028C>T" "" "Germline" "" "" "0" "" "" "g.94027417G>A" "" "likely pathogenic" ""
"0000733757" "2" "70" "1" "94496666" "94496666" "subst" "0.000219568" "00000" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic" ""
"0000733758" "2" "70" "1" "94496666" "94496666" "subst" "0.000219568" "00000" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic" ""
"0000733759" "2" "70" "1" "94577105" "94577105" "subst" "0" "00000" "ABCA4_000235" "g.94577105G>A" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94111549G>A" "" "likely pathogenic" ""
"0000733760" "2" "70" "1" "94508356" "94508356" "subst" "0" "00000" "ABCA4_000635" "g.94508356T>A" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94042800T>A" "" "likely pathogenic" ""
"0000733761" "2" "70" "1" "94508322" "94508322" "subst" "1.62513E-5" "00000" "ABCA4_000128" "g.94508322C>T" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94042766C>T" "" "likely pathogenic" ""
"0000733762" "2" "70" "1" "94467467" "94467467" "subst" "4.06164E-6" "00000" "ABCA4_000780" "g.94467467G>A" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94001911G>A" "" "likely pathogenic" ""
"0000733763" "2" "70" "1" "94466624" "94466624" "subst" "0.0014345" "00000" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94001068C>T" "" "likely pathogenic" ""
"0000733764" "2" "70" "1" "94543278" "94543278" "subst" "0.000178952" "00000" "ABCA4_000004" "g.94543278G>A" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94077722G>A" "" "likely pathogenic" ""
"0000733765" "2" "70" "1" "94495078" "94495078" "subst" "8.37044E-6" "00000" "ABCA4_000042" "g.94495078A>G" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94029522A>G" "" "likely pathogenic" ""
"0000733766" "2" "70" "1" "94508386" "94508386" "subst" "1.62443E-5" "00000" "ABCA4_000642" "g.94508386C>T" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94042830C>T" "" "likely pathogenic" ""
"0000733767" "2" "70" "1" "94510287" "94510287" "subst" "0" "00000" "ABCA4_001467" "g.94510287C>T" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94044731C>T" "" "likely pathogenic" ""
"0000733768" "2" "70" "1" "94493000" "94493000" "subst" "0" "00000" "ABCA4_000015" "g.94493000C>T" "" "{PMID:Stone 2017:28559085}" "" "IVS30+2001G>A" "" "Germline" "" "" "0" "" "" "g.94027444C>T" "" "likely pathogenic" ""
"0000733769" "2" "70" "1" "94471065" "94471065" "subst" "0.000194997" "00000" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic" ""
"0000733770" "2" "70" "1" "94512478" "94512478" "subst" "3.65871E-5" "00000" "ABCA4_000678" "g.94512478G>T" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94046922G>T" "" "likely pathogenic" ""
"0000733771" "2" "70" "1" "94473278" "94473278" "del" "3.25908E-5" "00000" "ABCA4_000392" "g.94473278del" "" "{PMID:Stone 2017:28559085}" "" "5917delG" "" "Germline" "" "" "0" "" "" "g.94007722del" "" "likely pathogenic" ""
"0000733772" "2" "70" "1" "94473278" "94473278" "del" "3.25908E-5" "00000" "ABCA4_000392" "g.94473278del" "" "{PMID:Stone 2017:28559085}" "" "5917delG" "" "Germline" "" "" "0" "" "" "g.94007722del" "" "likely pathogenic" ""
"0000733773" "2" "70" "1" "94473278" "94473278" "del" "3.25908E-5" "00000" "ABCA4_000392" "g.94473278del" "" "{PMID:Stone 2017:28559085}" "" "5917delG" "" "Germline" "" "" "0" "" "" "g.94007722del" "" "likely pathogenic" ""
"0000733774" "2" "70" "1" "94506923" "94506923" "subst" "2.43657E-5" "00000" "ABCA4_000012" "g.94506923C>T" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94041367C>T" "" "likely pathogenic" ""
"0000733775" "2" "70" "1" "94506923" "94506923" "subst" "2.43657E-5" "00000" "ABCA4_000012" "g.94506923C>T" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94041367C>T" "" "likely pathogenic" ""
"0000733776" "2" "70" "1" "94496010" "94496010" "subst" "1.62434E-5" "00000" "ABCA4_000549" "g.94496010G>T" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94030454G>T" "" "likely pathogenic" ""
"0000733777" "2" "70" "1" "94487206" "94487206" "del" "0" "00000" "ABCA4_001455" "g.94487206del" "" "{PMID:Stone 2017:28559085}" "" "4838delA" "" "Germline" "" "" "0" "" "" "g.94021650del" "" "likely pathogenic" ""
"0000733778" "2" "70" "1" "94495177" "94495177" "subst" "1.22342E-5" "00000" "ABCA4_000023" "g.94495177A>G" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94029621A>G" "" "likely pathogenic" ""
"0000733779" "2" "70" "1" "94466422" "94466422" "subst" "2.43651E-5" "00000" "ABCA4_000817" "g.94466422C>T" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94000866C>T" "" "likely pathogenic" ""
"0000733780" "2" "70" "1" "94507707" "94510220" "del" "0" "00000" "ABCA4_001445" "g.94507707_94510220del" "" "{PMID:Stone 2017:28559085}" "" "del codon 1001-ex23, chr1:94507707-94510220del" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000733781" "2" "70" "1" "94517254" "94517254" "subst" "0.00442654" "00000" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Stone 2017:28559085}" "" "2588G>C/6088C>T" "" "Germline" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic" ""
"0000733782" "2" "70" "1" "94577136" "94577136" "subst" "0" "00000" "ABCA4_000116" "g.94577136C>T" "" "{PMID:Stone 2017:28559085}" "" "IVS2-1G>A" "" "Germline" "" "" "0" "" "" "g.94111580C>T" "" "likely pathogenic" ""
"0000733783" "2" "70" "1" "94496666" "94496666" "subst" "0.000219568" "00000" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic" ""
"0000733784" "2" "70" "1" "94495008" "94495008" "subst" "0" "00000" "ABCA4_000055" "g.94495008G>C" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94029452G>C" "" "likely pathogenic" ""
"0000733785" "2" "70" "1" "94496583" "94496583" "subst" "2.03092E-5" "00000" "ABCA4_000190" "g.94496583A>G" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94031027A>G" "" "likely pathogenic" ""
"0000733786" "2" "70" "1" "94564350" "94564350" "subst" "9.34268E-5" "00000" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94098794C>A" "" "likely pathogenic" ""
"0000733787" "2" "70" "1" "94497393" "94497393" "subst" "2.04188E-5" "00000" "ABCA4_000578" "g.94497393C>T" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94031837C>T" "" "likely pathogenic" ""
"0000733788" "2" "70" "1" "94471065" "94471065" "subst" "0.000194997" "00000" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic" ""
"0000733789" "2" "70" "1" "94487251" "94487251" "subst" "2.85679E-5" "00000" "ABCA4_000490" "g.94487251G>T" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94021695G>T" "" "likely pathogenic" ""
"0000733790" "2" "70" "1" "94508323" "94508323" "subst" "0.000125953" "00000" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94042767G>A" "" "likely pathogenic" ""
"0000733791" "2" "70" "1" "94467467" "94467467" "subst" "4.06164E-6" "00000" "ABCA4_000780" "g.94467467G>A" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94001911G>A" "" "likely pathogenic" ""
"0000733792" "2" "70" "1" "94466455" "94466455" "subst" "0" "00000" "ABCA4_000165" "g.94466455C>G" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94000899C>G" "" "likely pathogenic" ""
"0000733793" "2" "70" "1" "94496010" "94496010" "subst" "1.62434E-5" "00000" "ABCA4_000549" "g.94496010G>T" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94030454G>T" "" "likely pathogenic" ""
"0000733794" "2" "70" "1" "94512499" "94512499" "subst" "0.000130029" "00000" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94046943T>C" "" "likely pathogenic" ""
"0000733795" "2" "70" "1" "94564504" "94564504" "subst" "0" "00000" "ABCA4_001479" "g.94564504C>A" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94098948C>A" "" "likely pathogenic" ""
"0000733796" "2" "70" "1" "94466422" "94466422" "subst" "2.43651E-5" "00000" "ABCA4_000817" "g.94466422C>T" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94000866C>T" "" "likely pathogenic" ""
"0000733797" "2" "70" "1" "94528164" "94528164" "subst" "2.03336E-5" "00000" "ABCA4_000267" "g.94528164G>A" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94062608G>A" "" "likely pathogenic" ""
"0000733798" "2" "70" "1" "94476351" "94476351" "subst" "0.000296608" "00000" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Stone 2017:28559085}" "" "IVS40+5G>A" "" "Germline" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic" ""
"0000733799" "2" "70" "1" "94546185" "94546185" "del" "0" "00000" "ABCA4_000350" "g.94546185del" "" "{PMID:Stone 2017:28559085}" "" "948delG" "" "Germline" "" "" "0" "" "" "g.94080629del" "" "likely pathogenic" ""
"0000733800" "2" "70" "1" "94546126" "94546126" "subst" "2.03383E-5" "00000" "ABCA4_000343" "g.94546126G>C" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94080570G>C" "" "likely pathogenic" ""
"0000733801" "2" "70" "1" "94544185" "94544185" "subst" "8.12137E-6" "00000" "ABCA4_000177" "g.94544185C>T" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94078629C>T" "" "likely pathogenic" ""
"0000733802" "2" "70" "1" "94528784" "94528784" "subst" "0" "00000" "ABCA4_001475" "g.94528784C>T" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94063228C>T" "" "likely pathogenic" ""
"0000733803" "2" "70" "1" "94564350" "94564350" "subst" "9.34268E-5" "00000" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94098794C>A" "" "likely pathogenic" ""
"0000733804" "2" "70" "1" "94568677" "94568677" "subst" "0" "00000" "ABCA4_001480" "g.94568677T>A" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94103121T>A" "" "likely pathogenic" ""
"0000733805" "2" "70" "1" "94508322" "94508322" "subst" "1.62513E-5" "00000" "ABCA4_000128" "g.94508322C>T" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94042766C>T" "" "likely pathogenic" ""
"0000733806" "2" "70" "1" "94508456" "94508456" "subst" "4.0621E-6" "00000" "ABCA4_000650" "g.94508456T>C" "" "{PMID:Stone 2017:28559085}" "" "IVS21-2A>G" "" "Germline" "" "" "0" "" "" "g.94042900T>C" "" "likely pathogenic" ""
"0000733807" "2" "70" "1" "94484001" "94484001" "subst" "0" "00000" "ABCA4_000016" "g.94484001C>T" "" "{PMID:Stone 2017:28559085}" "" "IVS36+1137G>A" "" "Germline" "" "" "0" "" "" "g.94018445C>T" "" "likely pathogenic" ""
"0000733808" "2" "70" "1" "94476351" "94476351" "subst" "0.000296608" "00000" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Stone 2017:28559085}" "" "IVS40+5G>A" "" "Germline" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic" ""
"0000733809" "2" "70" "1" "94473790" "94473790" "subst" "0" "00000" "ABCA4_000399" "g.94473790C>T" "" "{PMID:Stone 2017:28559085}" "" "IVS42+1G>A" "" "Germline" "" "" "0" "" "" "g.94008234C>T" "" "likely pathogenic" ""
"0000733810" "2" "70" "1" "94520723" "94520723" "subst" "0" "00000" "ABCA4_000716" "g.94520723A>C" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94055167A>C" "" "likely pathogenic" ""
"0000733811" "2" "70" "1" "94473244" "94473244" "subst" "4.07169E-6" "00000" "ABCA4_001449" "g.94473244A>C" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94007688A>C" "" "likely pathogenic" ""
"0000733812" "2" "70" "1" "94544249" "94544249" "subst" "8.12196E-6" "00000" "ABCA4_000323" "g.94544249A>G" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94078693A>G" "" "likely pathogenic" ""
"0000733813" "2" "70" "1" "94564350" "94564350" "subst" "9.34268E-5" "00000" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94098794C>A" "" "likely pathogenic" ""
"0000733814" "2" "70" "1" "94528266" "94528266" "subst" "4.477E-5" "00000" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94062710G>A" "" "likely pathogenic" ""
"0000733815" "2" "70" "1" "94528266" "94528266" "subst" "4.477E-5" "00000" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94062710G>A" "" "likely pathogenic" ""
"0000733816" "2" "70" "1" "94467467" "94467467" "subst" "4.06164E-6" "00000" "ABCA4_000780" "g.94467467G>A" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94001911G>A" "" "likely pathogenic" ""
"0000733817" "2" "70" "1" "94526296" "94526296" "subst" "1.64555E-5" "00000" "ABCA4_000768" "g.94526296G>A" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94060740G>A" "" "likely pathogenic" ""
"0000733818" "2" "70" "1" "94471065" "94471065" "subst" "0.000194997" "00000" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic" ""
"0000733819" "2" "70" "1" "94528248" "94528248" "subst" "1.22148E-5" "00000" "ABCA4_000279" "g.94528248A>T" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94062692A>T" "" "likely pathogenic" ""
"0000733820" "2" "70" "1" "94480182" "94480182" "subst" "0" "00000" "ABCA4_001452" "g.94480182C>T" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94014626C>T" "" "likely pathogenic" ""
"0000733821" "2" "70" "1" "94528780" "94528780" "subst" "4.06171E-6" "00000" "ABCA4_000299" "g.94528780C>T" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94063224C>T" "" "likely pathogenic" ""
"0000733822" "2" "70" "1" "94506935" "94506935" "subst" "0" "00000" "ABCA4_001466" "g.94506935G>C" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94041379G>C" "" "likely pathogenic" ""
"0000733823" "2" "70" "1" "94492973" "94492973" "subst" "0" "00000" "ABCA4_000030" "g.94492973G>A" "" "{PMID:Stone 2017:28559085}" "" "IVS30+2028C>T" "" "Germline" "" "" "0" "" "" "g.94027417G>A" "" "likely pathogenic" ""
"0000733824" "2" "70" "1" "94476853" "94476853" "subst" "4.06243E-6" "00000" "ABCA4_000429" "g.94476853A>G" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94011297A>G" "" "likely pathogenic" ""
"0000733825" "2" "70" "1" "94471065" "94471065" "subst" "0.000194997" "00000" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic" ""
"0000733826" "2" "70" "1" "94522266" "94522266" "subst" "0" "00000" "ABCA4_001469" "g.94522266G>A" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94056710G>A" "" "likely pathogenic" ""
"0000733827" "2" "70" "1" "94508322" "94508322" "subst" "1.62513E-5" "00000" "ABCA4_000128" "g.94508322C>T" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94042766C>T" "" "likely pathogenic" ""
"0000733828" "2" "70" "1" "94526296" "94526296" "subst" "1.64555E-5" "00000" "ABCA4_000768" "g.94526296G>A" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94060740G>A" "" "likely pathogenic" ""
"0000733829" "2" "70" "1" "94493680" "94493680" "subst" "0" "00000" "ABCA4_001459" "g.94493680T>C" "" "{PMID:Stone 2017:28559085}" "" "IVS30+1321A>G" "" "Germline" "" "" "0" "" "" "g.94028124T>C" "" "likely pathogenic" ""
"0000733830" "2" "70" "1" "94577135" "94577135" "subst" "2.43718E-5" "00000" "ABCA4_000240" "g.94577135C>T" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94111579C>T" "" "likely pathogenic" ""
"0000733831" "2" "70" "1" "94546098" "94546111" "del" "0" "00000" "ABCA4_000022" "g.94546098_94546111del" "" "{PMID:Stone 2017:28559085}" "" "1022_1035delAAGACAATAACTAT" "" "Germline" "" "" "0" "" "" "g.94080542_94080555del" "" "likely pathogenic" ""
"0000733832" "2" "70" "1" "94505604" "94505604" "subst" "0.00645586" "00000" "ABCA4_000092" "g.94505604A>C" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94040048A>C" "" "likely pathogenic" ""
"0000733833" "2" "70" "1" "94467467" "94467467" "subst" "4.06164E-6" "00000" "ABCA4_000780" "g.94467467G>A" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94001911G>A" "" "likely pathogenic" ""
"0000733834" "2" "70" "1" "94466422" "94466422" "subst" "2.43651E-5" "00000" "ABCA4_000817" "g.94466422C>T" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94000866C>T" "" "likely pathogenic" ""
"0000733835" "2" "70" "1" "94574275" "94574275" "subst" "0" "00000" "ABCA4_001025" "g.94574275G>C" "" "{PMID:Stone 2017:28559085}" "" "IVS3-3C>G" "" "Germline" "" "" "0" "" "" "g.94108719G>C" "" "likely pathogenic" ""
"0000733836" "2" "70" "1" "94493680" "94493680" "subst" "0" "00000" "ABCA4_001459" "g.94493680T>C" "" "{PMID:Stone 2017:28559085}" "" "IVS30+1321A>G" "" "Germline" "" "" "0" "" "" "g.94028124T>C" "" "likely pathogenic" ""
"0000733837" "2" "70" "1" "94505604" "94505604" "subst" "0.00645586" "00000" "ABCA4_000092" "g.94505604A>C" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94040048A>C" "" "likely pathogenic" ""
"0000733838" "2" "70" "1" "94528251" "94528251" "subst" "2.84824E-5" "00000" "ABCA4_000281" "g.94528251C>T" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94062695C>T" "" "likely pathogenic" ""
"0000733839" "2" "70" "1" "94476824" "94476824" "subst" "8.12889E-6" "00000" "ABCA4_000428" "g.94476824G>A" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94011268G>A" "" "likely pathogenic" ""
"0000733840" "2" "70" "1" "94578619" "94578619" "subst" "2.85088E-5" "00000" "ABCA4_000253" "g.94578619G>A" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94113063G>A" "" "likely pathogenic" ""
"0000733841" "2" "70" "1" "94496571" "94496571" "subst" "4.06174E-6" "00000" "ABCA4_000111" "g.94496571G>A" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94031015G>A" "" "likely pathogenic" ""
"0000733842" "2" "70" "1" "94546261" "94546261" "subst" "0.000648567" "00000" "ABCA4_000353" "g.94546261G>A" "" "{PMID:Stone 2017:28559085}" "" "872C>T/4222T>C" "" "Germline" "" "" "0" "" "" "g.94080705G>A" "" "likely pathogenic" ""
"0000733843" "2" "70" "1" "94546098" "94546111" "del" "0" "00000" "ABCA4_000022" "g.94546098_94546111del" "" "{PMID:Stone 2017:28559085}" "" "1022_1035delAAGACAATAACTAT" "" "Germline" "" "" "0" "" "" "g.94080542_94080555del" "" "likely pathogenic" ""
"0000733844" "2" "70" "1" "94490567" "94490567" "subst" "5.68528E-5" "00000" "ABCA4_000026" "g.94490567G>A" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94025011G>A" "" "likely pathogenic" ""
"0000733845" "2" "70" "1" "94490567" "94490567" "subst" "5.68528E-5" "00000" "ABCA4_000026" "g.94490567G>A" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94025011G>A" "" "likely pathogenic" ""
"0000733846" "0" "70" "1" "94466624" "94466624" "subst" "0.0014345" "00000" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94001068C>T" "" "likely pathogenic" ""
"0000733847" "2" "70" "1" "94564372" "94564372" "subst" "0" "00000" "ABCA4_000366" "g.94564372T>C" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94098816T>C" "" "likely pathogenic" ""
"0000733848" "2" "70" "1" "94467530" "94467530" "subst" "0" "00000" "ABCA4_001448" "g.94467530T>A" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94001974T>A" "" "likely pathogenic" ""
"0000733849" "2" "70" "1" "94528157" "94528157" "subst" "0" "00000" "ABCA4_001471" "g.94528157G>A" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94062601G>A" "" "likely pathogenic" ""
"0000733850" "2" "70" "1" "94544185" "94544185" "subst" "8.12137E-6" "00000" "ABCA4_000177" "g.94544185C>T" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94078629C>T" "" "likely pathogenic" ""
"0000733851" "2" "70" "1" "94544877" "94544877" "subst" "0" "00000" "ABCA4_001477" "g.94544877C>T" "" "{PMID:Stone 2017:28559085}" "" "IVS9+1G>A" "" "Germline" "" "" "0" "" "" "g.94079321C>T" "" "likely pathogenic" ""
"0000733852" "2" "70" "1" "94564484" "94564484" "subst" "0.000110199" "00000" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94098928G>A" "" "likely pathogenic" ""
"0000733853" "2" "70" "1" "94480221" "94480221" "subst" "0.000109654" "00000" "ABCA4_000176" "g.94480221G>C" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94014665G>C" "" "likely pathogenic" ""
"0000733854" "2" "70" "1" "94487195" "94487195" "subst" "0" "00000" "ABCA4_001454" "g.94487195C>A" "" "{PMID:Stone 2017:28559085}" "" "IVS34+1G>T" "" "Germline" "" "" "0" "" "" "g.94021639C>A" "" "likely pathogenic" ""
"0000733855" "2" "70" "1" "94495078" "94495078" "subst" "8.37044E-6" "00000" "ABCA4_000042" "g.94495078A>G" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94029522A>G" "" "likely pathogenic" ""
"0000733856" "2" "70" "1" "94506952" "94506952" "subst" "0" "00000" "ABCA4_000628" "g.94506952G>T" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94041396G>T" "" "likely pathogenic" ""
"0000733857" "2" "70" "1" "94476413" "94476413" "subst" "0" "00000" "ABCA4_000415" "g.94476413C>T" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94010857C>T" "" "likely pathogenic" ""
"0000733858" "2" "70" "1" "94493000" "94493000" "subst" "0" "00000" "ABCA4_000015" "g.94493000C>T" "" "{PMID:Stone 2017:28559085}" "" "IVS30+2001G>A" "" "Germline" "" "" "0" "" "" "g.94027444C>T" "" "likely pathogenic" ""
"0000733859" "2" "70" "1" "94526286" "94526286" "subst" "0" "00000" "ABCA4_000766" "g.94526286G>A" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94060730G>A" "" "likely pathogenic" ""
"0000733860" "2" "70" "1" "94520853" "94520853" "subst" "8.14783E-6" "00000" "ABCA4_000729" "g.94520853C>T" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94055297C>T" "" "likely pathogenic" ""
"0000733861" "2" "70" "1" "94543389" "94543389" "subst" "0.000861235" "00000" "ABCA4_000312" "g.94543389C>T" "" "{PMID:Stone 2017:28559085}" "" "1411G>A/6391G>A" "" "Germline" "" "" "0" "" "" "g.94077833C>T" "" "likely pathogenic" ""
"0000733862" "2" "70" "1" "94526265" "94526265" "subst" "0" "00000" "ABCA4_000143" "g.94526265C>T" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94060709C>T" "" "likely pathogenic" ""
"0000733863" "2" "70" "1" "94466624" "94466624" "subst" "0.0014345" "00000" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94001068C>T" "" "likely pathogenic" ""
"0000733864" "2" "70" "1" "94476424" "94476424" "subst" "2.43694E-5" "00000" "ABCA4_000418" "g.94476424C>T" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94010868C>T" "" "likely pathogenic" ""
"0000733865" "2" "70" "1" "94496571" "94496571" "subst" "4.06174E-6" "00000" "ABCA4_000111" "g.94496571G>A" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94031015G>A" "" "likely pathogenic" ""
"0000733866" "2" "70" "1" "94483922" "94483922" "subst" "0" "00000" "ABCA4_000027" "g.94483922G>T" "" "{PMID:Stone 2017:28559085}" "" "IVS36+1216C>A" "" "Germline" "" "" "0" "" "" "g.94018366G>T" "" "likely pathogenic" ""
"0000733867" "2" "70" "1" "94490605" "94490605" "subst" "0" "00000" "ABCA4_001458" "g.94490605C>T" "" "{PMID:Stone 2017:28559085}" "" "IVS30-1G>A" "" "Germline" "" "" "0" "" "" "g.94025049C>T" "" "likely pathogenic" ""
"0000733868" "2" "70" "1" "94577135" "94577135" "subst" "2.43718E-5" "00000" "ABCA4_000240" "g.94577135C>T" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94111579C>T" "" "likely pathogenic" ""
"0000733877" "2" "70" "1" "94486896" "94486896" "subst" "3.65562E-5" "00000" "ABCA4_000085" "g.94486896G>A" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94021340G>A" "" "likely pathogenic" ""
"0000733878" "2" "70" "1" "94508386" "94508386" "subst" "1.62443E-5" "00000" "ABCA4_000642" "g.94508386C>T" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94042830C>T" "" "likely pathogenic" ""
"0000733879" "2" "70" "1" "94517254" "94517254" "subst" "0.00442654" "00000" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Stone 2017:28559085}" "" "2588G>C/6088C>T" "" "Germline" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic" ""
"0000733880" "2" "70" "1" "94508323" "94508323" "subst" "0.000125953" "00000" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94042767G>A" "" "likely pathogenic" ""
"0000733886" "2" "70" "1" "94466480" "94466480" "subst" "4.06088E-6" "00000" "ABCA4_000827" "g.94466480C>T" "" "{PMID:Stone 2017:28559085}" "" "1411G>A/6391G>A" "" "Germline" "" "" "0" "" "" "g.94000924C>T" "" "likely pathogenic" ""
"0000733887" "2" "70" "1" "94528713" "94528713" "subst" "4.87381E-5" "00000" "ABCA4_000072" "g.94528713C>T" "" "{PMID:Stone 2017:28559085}" "" "2588G>C/1715G>A" "" "Germline" "" "" "0" "" "" "g.94063157C>T" "" "likely pathogenic" ""
"0000733888" "1" "70" "1" "94528713" "94528713" "subst" "4.87381E-5" "00000" "ABCA4_000072" "g.94528713C>T" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94063157C>T" "" "likely pathogenic" ""
"0000733889" "2" "70" "1" "94471056" "94471056" "subst" "2.84398E-5" "00000" "ABCA4_000050" "g.94471056G>A" "" "{PMID:Stone 2017:28559085}" "" "2588G>C/6088C>T" "" "Germline" "" "" "0" "" "" "g.94005500G>A" "" "likely pathogenic" ""
"0000733890" "2" "70" "1" "94471056" "94471056" "subst" "2.84398E-5" "00000" "ABCA4_000050" "g.94471056G>A" "" "{PMID:Stone 2017:28559085}" "" "2588G>C/6088C>T" "" "Germline" "" "" "0" "" "" "g.94005500G>A" "" "likely pathogenic" ""
"0000733891" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "00000" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Stone 2017:28559085}" "" "3113C>T/1622T>C" "" "Germline" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000733892" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "00000" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Stone 2017:28559085}" "" "3113C>T/1622T>C" "" "Germline" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000733893" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "00000" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Stone 2017:28559085}" "" "3113C>T/1622T>C" "" "Germline" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000733894" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "00000" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Stone 2017:28559085}" "" "3113C>T/1622T>C" "" "Germline" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000733895" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "00000" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Stone 2017:28559085}" "" "3113C>T/1622T>C" "" "Germline" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000733896" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "00000" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Stone 2017:28559085}" "" "3113C>T/1622T>C" "" "Germline" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000733897" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "00000" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Stone 2017:28559085}" "" "3113C>T/1622T>C" "" "Germline" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000733898" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "00000" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Stone 2017:28559085}" "" "3113C>T/1622T>C" "" "Germline" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000733899" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "00000" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Stone 2017:28559085}" "" "3113C>T/1622T>C" "" "Germline" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000733900" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "00000" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Stone 2017:28559085}" "" "3113C>T/1622T>C" "" "Germline" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000733901" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "00000" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Stone 2017:28559085}" "" "3113C>T/1622T>C" "" "Germline" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000733902" "1" "70" "1" "94520694" "94520694" "subst" "8.12414E-6" "00000" "ABCA4_000712" "g.94520694C>T" "" "{PMID:Stone 2017:28559085}" "" "3113C>T/2560G>A" "" "Germline" "" "" "0" "" "" "g.94055138C>T" "" "likely pathogenic" ""
"0000733903" "1" "70" "1" "94520694" "94520694" "subst" "8.12414E-6" "00000" "ABCA4_000712" "g.94520694C>T" "" "{PMID:Stone 2017:28559085}" "" "3113C>T/2560G>A" "" "Germline" "" "" "0" "" "" "g.94055138C>T" "" "likely pathogenic" ""
"0000733904" "2" "70" "1" "94471025" "94471025" "subst" "0.00031698" "00000" "ABCA4_000096" "g.94471025C>T" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94005469C>T" "" "likely pathogenic" ""
"0000733905" "2" "70" "1" "94486896" "94486896" "subst" "3.65562E-5" "00000" "ABCA4_000085" "g.94486896G>A" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94021340G>A" "" "likely pathogenic" ""
"0000733906" "1" "70" "1" "94526211" "94526211" "subst" "2.43974E-5" "00000" "ABCA4_000758" "g.94526211C>T" "" "{PMID:Stone 2017:28559085}" "" "5882G>A/2042G>A" "" "Germline" "" "" "0" "" "" "g.94060655C>T" "" "likely pathogenic" ""
"0000733907" "1" "70" "1" "94502715" "94502715" "subst" "0" "00000" "ABCA4_001463" "g.94502715T>C" "" "{PMID:Stone 2017:28559085}" "" "5882G>A/3799A>G" "" "Germline" "" "" "0" "" "" "g.94037159T>C" "" "likely pathogenic" ""
"0000733908" "3" "70" "1" "94564484" "94564484" "subst" "0.000110199" "00000" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Stone 2017:28559085}" "" "5882G>A/634C>T" "" "Germline" "" "" "0" "" "" "g.94098928G>A" "" "likely pathogenic" ""
"0000733909" "2" "70" "1" "94496583" "94496583" "subst" "2.03092E-5" "00000" "ABCA4_000190" "g.94496583A>G" "" "{PMID:Stone 2017:28559085}" "" "872C>T/4222T>C" "" "Germline" "" "" "0" "" "" "g.94031027A>G" "" "likely pathogenic" ""
"0000733910" "0" "70" "1" "94522239" "94522239" "subst" "2.03305E-5" "00000" "ABCA4_000736" "g.94522239A>T" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94056683A>T" "" "likely pathogenic" ""
"0000733911" "0" "70" "1" "94508969" "94508969" "subst" "0.00168642" "00000" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic" ""
"0000734087" "0" "70" "1" "94564430" "94564430" "subst" "0" "03971" "ABCA4_000376" "g.94564430A>T" "" "Mena et al., 2020 submitted." "" "" "" "Germline" "?" "" "" "" "" "" "" "likely pathogenic" "ACMG"
"0000734088" "0" "70" "1" "94520735" "94520735" "subst" "0" "03971" "ABCA4_000718" "g.94520735A>C" "" "Mena et al., 2020 submitted" "" "" "" "Germline" "?" "" "" "" "" "" "" "likely pathogenic" "ACMG"
"0000734089" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "03971" "ABCA4_000117" "g.94528266G>A" "" "Mena et al., 2020 submitted" "" "" "" "Germline" "?" "rs61749409" "" "" "" "" "" "pathogenic" "ACMG"
"0000734090" "0" "70" "1" "94495083" "94495083" "subst" "0.000124542" "03971" "ABCA4_000542" "g.94495083G>A" "" "Mena et al., 2020 submitted" "" "" "" "Germline" "?" "rs61750145" "" "" "" "" "" "likely pathogenic" "ACMG"
"0000734091" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "03971" "ABCA4_000054" "g.94506901C>A" "" "Mena et al., 2020 submitted." "" "" "" "Germline" "?" "rs1801269" "" "" "" "" "" "pathogenic" "ACMG"
"0000734092" "0" "70" "1" "94576990" "94576990" "subst" "0" "03971" "ABCA4_000221" "g.94576990T>G" "" "Mena et al., 2020 submitted" "" "" "" "Germline" "?" "" "" "" "" "" "866885" "likely pathogenic" "ACMG"
"0000734093" "0" "90" "1" "94473278" "94473278" "del" "3.25908E-5" "03971" "ABCA4_000392" "g.94473278del" "" "Mena et al., 2020 submitted" "" "" "" "Germline" "?" "" "0" "" "" "" "" "pathogenic" "ACMG"
"0000734094" "0" "70" "1" "94471040" "94471040" "subst" "0" "03971" "ABCA4_000123" "g.94471040A>G" "" "Mena et al., 2020 submitted" "" "" "" "Germline" "?" "rs61750642" "" "" "" "" "" "likely pathogenic" "ACMG"
"0000734095" "0" "70" "1" "94486895" "94486895" "subst" "3.24923E-5" "03971" "ABCA4_000484" "g.94486895C>T" "" "Mena et al., 2020 submitted" "" "" "" "Germline" "?" "rs61751403" "" "" "" "" "" "likely pathogenic" "ACMG"
"0000734096" "0" "70" "1" "94474323" "94474323" "subst" "2.03034E-5" "03971" "ABCA4_000156" "g.94474323A>G" "" "Mena et al., 2020 submitted" "" "" "" "Germline" "?" "rs61753033" "" "" "" "" "" "likely pathogenic" "ACMG"
"0000734097" "0" "70" "1" "94486895" "94486895" "subst" "3.24923E-5" "03971" "ABCA4_000484" "g.94486895C>T" "" "Mena et al., 2020 submitted" "" "" "" "Germline" "?" "rs61751403" "" "" "" "" "" "likely pathogenic" "ACMG"
"0000734098" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "03971" "ABCA4_000046" "g.94473807C>T" "" "Mena et al., 2020 submitted" "" "" "" "Germline" "?" "rs1800553" "" "" "" "" "" "pathogenic" "ACMG"
"0000734099" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "03971" "ABCA4_000046" "g.94473807C>T" "" "Mena et al., 2020 submitted" "" "" "" "Germline" "?" "rs1800553" "" "" "" "" "" "pathogenic" "ACMG"
"0000734100" "0" "70" "1" "94466422" "94466422" "subst" "2.43651E-5" "03971" "ABCA4_000817" "g.94466422C>T" "" "Mena et al., 2020 submitted" "" "" "" "Germline" "?" "rs61751384" "" "" "" "" "" "likely pathogenic" "ACMG"
"0000734101" "0" "70" "1" "94509026" "94509026" "subst" "4.06497E-5" "03971" "ABCA4_000660" "g.94509026G>A" "" "Mena et al., 2020 submitted" "" "" "" "Germline" "?" "" "" "" "" "" "" "likely pathogenic" "ACMG"
"0000734102" "0" "90" "1" "94487251" "94487251" "subst" "2.85679E-5" "03971" "ABCA4_000490" "g.94487251G>T" "" "Mena et al., 2020 submitted" "" "" "" "Germline" "?" "rs61750155" "" "" "" "" "" "pathogenic" "ACMG"
"0000734103" "0" "70" "1" "94526230" "94526230" "subst" "7.32136E-5" "03971" "ABCA4_000760" "g.94526230C>T" "" "Mena et al., 2020 submitted" "" "" "" "Germline" "?" "rs575453437" "" "" "" "" "" "likely pathogenic" "ACMG"
"0000734104" "0" "90" "1" "94510164" "94510164" "subst" "1.62441E-5" "03971" "ABCA4_000144" "g.94510164C>T" "" "Mena et al., 2020 submitted" "" "" "" "Germline" "?" "rs61751262" "" "" "" "" "" "pathogenic" "ACMG"
"0000734105" "0" "90" "1" "94497519" "94497519" "subst" "0" "03971" "ABCA4_000585" "g.94497519G>A" "" "Mena et al., 2020 submitted" "" "" "" "Germline" "?" "" "" "" "" "" "" "pathogenic" "ACMG"
"0000734106" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "03971" "ABCA4_000046" "g.94473807C>T" "" "Mena et al., 2020 submitted" "" "" "" "Germline" "?" "rs1800553" "" "" "" "" "" "pathogenic" "ACMG"
"0000734107" "0" "70" "1" "94485279" "94485293" "del" "0" "03971" "ABCA4_000476" "g.94485279_94485293del" "" "Mena et al., 2020 submitted" "" "" "" "Germline" "?" "rs62646872" "0" "" "" "g.94019723_94019737del" "" "likely pathogenic" "ACMG"
"0000734108" "0" "90" "1" "94476351" "94476351" "subst" "0.000296608" "03971" "ABCA4_000996" "g.94476351C>T" "" "Mena et al., 2020 submitted" "" "" "" "Germline" "?" "rs61751407" "" "" "" "" "" "pathogenic" "ACMG"
"0000734109" "0" "90" "1" "94577046" "94577049" "dup" "0" "03971" "ABCA4_000227" "g.94577046_94577049dup" "" "Mena et al., 2020 submitted" "" "" "" "Germline" "?" "" "" "" "" "" "" "pathogenic" "ACMG"
"0000734110" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "03971" "ABCA4_000054" "g.94506901C>A" "" "Mena et al., 2020 submitted" "" "" "" "Germline" "?" "rs1801269" "" "" "" "" "" "pathogenic" "ACMG"
"0000734111" "0" "70" "1" "94526296" "94526296" "subst" "1.64555E-5" "03971" "ABCA4_000768" "g.94526296G>A" "" "Mena et al., 2020 submitted" "" "" "" "Germline" "?" "rs61749420" "" "" "" "" "" "likely pathogenic" "ACMG"
"0000734112" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "03971" "ABCA4_000054" "g.94506901C>A" "" "Mena et al., 2020 submitted" "" "" "" "Germline" "?" "rs1801269" "" "" "" "" "" "pathogenic" "ACMG"
"0000734113" "0" "90" "1" "94568689" "94568689" "subst" "0" "03971" "ABCA4_001023" "g.94568689A>G" "" "Mena et al., 2020 submitted" "" "" "" "Germline" "yes" "rs1012017728" "" "" "" "" "" "pathogenic" "ACMG"
"0000734114" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "03971" "ABCA4_000054" "g.94506901C>A" "" "Mena et al., 2020 submitted" "" "" "" "Germline" "yes" "rs1801269" "" "" "" "" "" "pathogenic" "ACMG"
"0000734115" "0" "90" "1" "94568689" "94568689" "subst" "0" "03971" "ABCA4_001023" "g.94568689A>G" "" "Mena et al., 2020 submitted" "" "" "" "Germline" "yes" "rs1012017728" "" "" "" "" "" "pathogenic" "ACMG"
"0000734116" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "03971" "ABCA4_000054" "g.94506901C>A" "" "Mena et al., 2020 submitted" "" "" "" "Germline" "yes" "rs1801269" "" "" "" "" "" "pathogenic" "ACMG"
"0000734229" "0" "90" "1" "94495990" "94495990" "subst" "0" "03971" "ABCA4_001460" "g.94495990C>T" "" "Mena et al., 2020 submitted" "" "" "" "Germline" "?" "" "" "" "" "" "" "pathogenic" "ACMG"
"0000734230" "0" "90" "1" "94476351" "94476351" "subst" "0.000296608" "03971" "ABCA4_000996" "g.94476351C>T" "" "Mena et al., 2020 submitted" "" "" "" "Germline" "?" "rs61751407" "" "" "" "" "" "pathogenic" "ACMG"
"0000734243" "0" "90" "1" "94564484" "94564484" "subst" "0.000110199" "03971" "ABCA4_000036" "g.94564484G>A" "" "Mena et al., 2020 submitted" "" "" "" "Germline" "?" "rs61750200" "" "" "" "" "" "pathogenic" "ACMG"
"0000734245" "0" "90" "1" "94481319" "94481319" "del" "0" "03971" "ABCA4_000098" "g.94481319del" "" "Mena et al., 2020 submitted" "" "" "" "Germline" "?" "rs1553188071" "0" "" "" "g.94015763del" "" "pathogenic" "ACMG"
"0000734249" "0" "70" "1" "94526296" "94526296" "subst" "1.64555E-5" "03971" "ABCA4_000768" "g.94526296G>A" "" "Mena et al., 2020 submitted" "" "" "" "Germline" "?" "rs61749420" "" "" "" "" "" "likely pathogenic" "ACMG"
"0000734250" "0" "70" "1" "94466624" "94466624" "subst" "0.0014345" "03971" "ABCA4_000093" "g.94466624C>T" "" "Mena et al., 2020 submitted" "" "" "" "Germline" "?" "" "" "" "" "" "" "likely pathogenic" "ACMG"
"0000734261" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "03971" "ABCA4_000117" "g.94528266G>A" "" "Mena et al., 2020 submitted" "" "" "" "Germline" "?" "rs61749409" "" "" "" "" "" "pathogenic" "ACMG"
"0000734262" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "03971" "ABCA4_000054" "g.94506901C>A" "" "Mena et al., 2020 submitted" "" "" "" "Germline" "?" "rs1801269" "" "" "" "" "" "pathogenic" "ACMG"
"0000734263" "0" "90" "1" "94490567" "94490567" "subst" "5.68528E-5" "03971" "ABCA4_000026" "g.94490567G>A" "" "Mena et al., 2020 submitted" "" "" "" "Germline" "?" "rs61750152" "" "" "" "" "" "pathogenic" "ACMG"
"0000734264" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "03971" "ABCA4_000046" "g.94473807C>T" "" "Mena et al., 2020 submitted" "" "" "" "Germline" "?" "rs1800553" "" "" "" "" "" "pathogenic" "ACMG"
"0000734266" "0" "70" "1" "94466461" "94466461" "subst" "0" "03971" "ABCA4_000825" "g.94466461C>T" "" "Mena et al., 2020 submitted" "" "" "" "Germline" "?" "" "" "" "" "" "" "likely pathogenic" "ACMG"
"0000734267" "0" "70" "1" "94466624" "94466624" "subst" "0.0014345" "03971" "ABCA4_000093" "g.94466624C>T" "" "Mena et al., 2020 submitted" "" "" "" "Germline" "?" "" "" "" "" "" "" "likely pathogenic" "ACMG"
"0000734268" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "03971" "ABCA4_000046" "g.94473807C>T" "" "Mena et al., 2020 submitted" "" "" "" "Germline" "?" "rs1800553" "" "" "" "" "" "pathogenic" "ACMG"
"0000734269" "0" "90" "1" "94471056" "94471056" "subst" "2.84398E-5" "03971" "ABCA4_000050" "g.94471056G>A" "" "Mena et al., 2020 submitted" "" "" "" "Germline" "?" "rs61751383" "" "" "" "" "" "pathogenic" "ACMG"
"0000734274" "0" "90" "1" "94497468" "94497468" "subst" "0" "03971" "ABCA4_000582" "g.94497468G>A" "" "Mena et al., 2020 submitted" "" "" "" "Germline" "?" "rs61752428" "" "" "" "" "" "pathogenic" "ACMG"
"0000734275" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "03971" "ABCA4_000046" "g.94473807C>T" "" "Mena et al., 2020 submitted" "" "" "" "Germline" "?" "rs1800553" "" "" "" "" "" "pathogenic" "ACMG"
"0000734276" "0" "90" "1" "94526212" "94526212" "subst" "1.22012E-5" "03971" "ABCA4_000075" "g.94526212G>A" "" "Mena et al., 2020 submitted" "" "" "" "Germline" "?" "" "" "" "" "" "" "pathogenic" "ACMG"
"0000734277" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "03971" "ABCA4_000054" "g.94506901C>A" "" "Mena et al., 2020 submitted" "" "" "" "Germline" "?" "rs1801269" "" "" "" "" "" "pathogenic" "ACMG"
"0000734279" "0" "70" "1" "94546265" "94546265" "subst" "2.04063E-5" "03971" "ABCA4_000355" "g.94546265G>A" "" "Mena et al., 2020 submitted" "" "" "" "Germline" "?" "" "" "" "" "" "" "likely pathogenic" "ACMG"
"0000734280" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "03971" "ABCA4_000046" "g.94473807C>T" "" "Mena et al., 2020 submitted" "" "" "" "Germline" "?" "rs1800553" "" "" "" "" "" "pathogenic" "ACMG"
"0000734281" "0" "70" "1" "94526296" "94526296" "subst" "1.64555E-5" "03971" "ABCA4_000768" "g.94526296G>A" "" "Mena et al., 2020 submitted" "" "" "" "Germline" "?" "rs61749420" "" "" "" "" "" "likely pathogenic" "ACMG"
"0000734282" "0" "70" "1" "94466456" "94466456" "subst" "8.1217E-6" "03971" "ABCA4_000181" "g.94466456G>A" "" "Mena et al., 2020 submitted" "" "" "" "Germline" "?" "" "" "" "" "" "" "likely pathogenic" "ACMG"
"0000734330" "1" "70" "1" "94471061" "94471061" "subst" "0" "00000" "ABCA4_001247" "g.94471061G>A" "" "{PMID:Huang 2017:28512305}" "" "" "" "Germline" "" "" "0" "" "" "g.94005505G>A" "" "likely pathogenic" ""
"0000734331" "1" "70" "1" "94506923" "94506923" "subst" "2.43657E-5" "00000" "ABCA4_000012" "g.94506923C>T" "" "{PMID:Huang 2017:28512305}" "" "" "" "Germline" "" "" "0" "" "" "g.94041367C>T" "" "likely pathogenic" ""
"0000734332" "1" "70" "1" "94480241" "94480241" "subst" "7.71705E-5" "00000" "ABCA4_000446" "g.94480241G>A" "" "{PMID:Huang 2017:28512305}" "" "" "" "Germline" "" "" "0" "" "" "g.94014685G>A" "" "likely pathogenic" ""
"0000734386" "2" "70" "1" "94564378" "94564378" "subst" "0" "00000" "ABCA4_000368" "g.94564378T>A" "" "{PMID:Huang 2017:28512305}" "" "" "" "Germline" "" "" "0" "" "" "g.94098822T>A" "" "likely pathogenic" ""
"0000734387" "2" "70" "1" "94543304" "94543304" "subst" "0" "00000" "ABCA4_001476" "g.94543304C>T" "" "{PMID:Huang 2017:28512305}" "" "" "" "Germline" "" "" "0" "" "" "g.94077748C>T" "" "likely pathogenic" ""
"0000734388" "2" "70" "1" "94577132" "94577132" "subst" "0" "00000" "ABCA4_000239" "g.94577132T>C" "" "{PMID:Huang 2017:28512305}" "" "" "" "Germline" "" "" "0" "" "" "g.94111576T>C" "" "likely pathogenic" ""
"0000734410" "3" "90" "1" "94522194" "94522194" "subst" "0" "00000" "ABCA4_000733" "g.94522194C>T" "" "{PMID:Habibi 2016:27874104}" "" "" "" "Germline" "" "" "0" "" "" "g.94056638C>T" "" "pathogenic (recessive)" ""
"0000734519" "0" "70" "1" "94502906" "94502906" "subst" "0.000314086" "03971" "ABCA4_000605" "g.94502906C>T" "" "Mena et al., 2020 submitted" "" "" "" "Germline" "?" "" "" "" "" "" "" "likely pathogenic" "ACMG"
"0000734520" "0" "70" "1" "94485279" "94485293" "del" "0" "03971" "ABCA4_000476" "g.94485279_94485293del" "" "Mena et al., 2020 submitted" "" "" "" "Germline" "?" "rs62646872" "0" "" "" "g.94019723_94019737del" "" "likely pathogenic" "ACMG"
"0000734521" "0" "90" "1" "94487251" "94487251" "subst" "2.85679E-5" "03971" "ABCA4_000490" "g.94487251G>T" "" "Mena et al., 2020 submitted" "" "" "" "Germline" "?" "rs61750155" "" "" "" "" "" "pathogenic" "ACMG"
"0000734522" "0" "70" "1" "94476853" "94476853" "subst" "4.06243E-6" "03971" "ABCA4_000429" "g.94476853A>G" "" "Mena et al., 2020 submitted" "" "" "" "Germline" "?" "" "" "" "" "" "" "likely pathogenic" "ACMG"
"0000734523" "0" "70" "1" "94473266" "94473266" "subst" "8.14677E-6" "03971" "ABCA4_000389" "g.94473266C>T" "" "Mena et al., 2020 submitted" "" "" "" "Germline" "?" "" "" "" "" "" "" "likely pathogenic" "ACMG"
"0000734524" "0" "90" "1" "94508435" "94508436" "dup" "0" "03971" "ABCA4_000998" "g.94508435_94508436dup" "" "Mena et al., 2020 submitted" "" "" "" "Germline" "?" "rs387906385" "0" "" "" "g.94042879_94042880dup" "" "pathogenic" "ACMG"
"0000734525" "0" "90" "1" "94564484" "94564484" "subst" "0.000110199" "03971" "ABCA4_000036" "g.94564484G>A" "" "Mena et al., 2020 submitted" "" "" "" "Germline" "?" "rs61750200" "" "" "" "" "" "pathogenic" "ACMG"
"0000734526" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "03971" "ABCA4_000054" "g.94506901C>A" "" "Mena et al., 2020 submitted" "" "" "" "Germline" "?" "rs1801269" "" "" "" "" "" "pathogenic" "ACMG"
"0000734537" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "03971" "ABCA4_000046" "g.94473807C>T" "" "Mena et al., 2020 submitted" "" "" "" "Germline" "?" "rs1800553" "" "" "" "" "" "pathogenic" "ACMG"
"0000734540" "0" "70" "1" "94466422" "94466422" "subst" "2.43651E-5" "03971" "ABCA4_000817" "g.94466422C>T" "" "Mena et al., 2020 submitted" "" "" "" "Germline" "?" "rs61751384" "" "" "" "" "" "likely pathogenic" "ACMG"
"0000734544" "0" "70" "1" "94564430" "94564430" "subst" "0" "03971" "ABCA4_000376" "g.94564430A>T" "" "Mena et al., 2020 submitted" "" "" "" "Germline" "?" "rs1057518767" "" "" "" "" "" "likely pathogenic" "ACMG"
"0000734546" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "03971" "ABCA4_000031" "g.94508323G>A" "" "Mena et al., 2020 submitted" "" "" "" "Germline" "?" "" "" "" "" "" "" "pathogenic" "ACMG"
"0000734553" "0" "90" "1" "94546248" "94546248" "del" "2.03666E-5" "03971" "ABCA4_000352" "g.94546248del" "" "Mena et al., 2020 submitted" "" "" "" "Germline" "?" "rs764759172" "0" "" "" "" "" "pathogenic" "ACMG"
"0000734554" "0" "90" "1" "94505598" "94505598" "subst" "0" "03971" "ABCA4_001482" "g.94505598C>T" "" "Mena et al., 2020 submitted" "" "" "" "Germline" "" "" "" "" "" "" "" "pathogenic" "ACMG"
"0000734555" "0" "90" "1" "94546248" "94546248" "del" "2.03666E-5" "03971" "ABCA4_000352" "g.94546248del" "" "Mena et al., 2020 submitted" "" "" "" "Germline" "?" "rs764759172" "" "" "" "" "" "pathogenic" "ACMG"
"0000734556" "0" "70" "1" "94485279" "94485293" "del" "0" "03971" "ABCA4_000476" "g.94485279_94485293del" "" "Mena et al., 2020 submitted" "" "" "" "Germline" "?" "rs62646872" "0" "" "" "g.94019723_94019737del" "" "likely pathogenic" "ACMG"
"0000734557" "0" "70" "1" "94577073" "94577073" "subst" "0" "03971" "ABCA4_000231" "g.94577073A>C" "" "Mena et al., 2020 submitted" "" "" "" "Germline" "?" "rs61748526" "" "" "" "" "" "likely pathogenic" ""
"0000734558" "0" "70" "1" "94576990" "94576990" "subst" "0" "03971" "ABCA4_000221" "g.94576990T>G" "" "Mena et al., 2020 submitted" "" "" "" "Germline" "?" "" "" "" "" "" "" "likely pathogenic" "ACMG"
"0000734559" "0" "70" "1" "94526296" "94526296" "subst" "1.64555E-5" "03971" "ABCA4_000768" "g.94526296G>A" "" "Mena et al., 2020 submitted" "" "" "" "Germline" "?" "rs61749420" "" "" "" "" "" "likely pathogenic" "ACMG"
"0000734560" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "03971" "ABCA4_000054" "g.94506901C>A" "" "Mena et al., 2020 submitted" "" "" "" "Germline" "?" "rs1801269" "" "" "" "" "" "pathogenic" "ACMG"
"0000734561" "0" "70" "1" "94526296" "94526296" "subst" "1.64555E-5" "03971" "ABCA4_000768" "g.94526296G>A" "" "Mena et al., 2020 submitted" "" "" "" "Germline" "?" "rs61749420" "" "" "" "" "" "likely pathogenic" "ACMG"
"0000734562" "0" "70" "1" "94466658" "94466658" "subst" "8.14817E-6" "03971" "ABCA4_000132" "g.94466658C>T" "" "Mena et al., 2020 submitted" "" "" "" "Germline" "?" "rs61750646" "" "" "" "" "" "likely pathogenic" "ACMG"
"0000734563" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "03971" "ABCA4_000054" "g.94506901C>A" "" "Mena et al., 2020 submitted" "" "" "" "Germline" "?" "rs1801269" "" "" "" "" "" "pathogenic" "ACMG"
"0000734564" "0" "90" "1" "94488941" "94488941" "subst" "4.09836E-6" "03971" "ABCA4_000127" "g.94488941C>T" "" "Mena et al., 2020 submitted" "" "" "" "Germline" "?" "" "" "" "" "" "" "pathogenic" "ACMG"
"0000734601" "3" "90" "1" "94506901" "94506901" "subst" "0.000308665" "03971" "ABCA4_000054" "g.94506901C>A" "" "Mena et al., 2020 submitted" "" "" "" "Germline" "?" "rs1801269" "" "" "" "" "" "pathogenic" "ACMG"
"0000734602" "3" "70" "1" "94463428" "94463428" "subst" "1.62621E-5" "03971" "ABCA4_000854" "g.94463428T>C" "" "Mena et al., 2020 submitted" "" "" "" "Germline" "?" "" "" "" "" "" "" "likely pathogenic" "ACMG"
"0000734605" "21" "90" "1" "94508386" "94508386" "subst" "1.62443E-5" "03971" "ABCA4_000642" "g.94508386C>T" "" "Mena et al., 2020 submitted" "" "" "" "Germline" "yes" "rs61751398" "" "" "" "" "" "pathogenic" "ACMG"
"0000734609" "0" "70" "1" "94467482" "94467482" "subst" "0" "03971" "ABCA4_001483" "g.94467482T>G" "" "Mena et al., 2020 submitted" "" "" "" "De novo" "yes" "" "" "" "" "" "" "likely pathogenic" "ACMG"
"0000734610" "10" "70" "1" "94473236" "94473236" "subst" "0" "03971" "ABCA4_001484" "g.94473236C>A" "" "Mena et al., 2020 submitted" "" "" "" "Germline" "yes" "" "" "" "" "" "" "likely pathogenic" "ACMG"
"0000734611" "10" "90" "1" "94473231" "94473234" "del" "0" "03971" "ABCA4_000387" "g.94473231_94473234del" "" "Mena et al., 2020 submitted" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "ACMG"
"0000734615" "21" "90" "1" "94476351" "94476351" "subst" "0.000296608" "03971" "ABCA4_000996" "g.94476351C>T" "" "Mena et al., 2020 submitted" "" "" "" "Germline" "yes" "rs61751407" "" "" "" "" "" "pathogenic" "ACMG"
"0000734707" "0" "50" "1" "94564451" "94564451" "subst" "0.000150413" "00000" "ABCA4_000378" "g.94564451T>G" "" "{PMID:Vincent 2017:28488341}" "" "" "" "Germline" "" "" "0" "" "" "g.94098895T>G" "" "VUS" ""
"0000735156" "11" "70" "1" "94564430" "94564430" "subst" "0" "03971" "ABCA4_000376" "g.94564430A>T" "" "Mena et al., 2020 submitted" "" "" "" "Germline" "yes" "rs1057518767" "" "" "" "" "" "likely pathogenic" "ACMG"
"0000735158" "0" "70" "1" "94463428" "94463428" "subst" "1.62621E-5" "03971" "ABCA4_000854" "g.94463428T>C" "" "Mena et al., 2020 submitted" "" "" "" "De novo" "?" "" "" "" "" "" "" "likely pathogenic" "ACMG"
"0000735159" "21" "90" "1" "94476351" "94476351" "subst" "0.000296608" "03971" "ABCA4_000996" "g.94476351C>T" "" "Mena et al., 2020 submitted" "" "" "" "Germline" "yes" "rs61751407" "" "" "" "" "" "pathogenic" "ACMG"
"0000735160" "21" "90" "1" "94508323" "94508323" "subst" "0.000125953" "03971" "ABCA4_000031" "g.94508323G>A" "" "Mena et al., 2020 submitted" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic" "ACMG"
"0000735161" "21" "70" "1" "94466624" "94466624" "subst" "0.0014345" "03971" "ABCA4_000093" "g.94466624C>T" "" "Mena et al., 2020 submitted" "" "" "" "Germline" "yes" "" "" "" "" "" "" "likely pathogenic" "ACMG"
"0000735162" "11" "90" "1" "94476351" "94476351" "subst" "0.000296608" "03971" "ABCA4_000996" "g.94476351C>T" "" "Mena et al., 2020 submitted" "" "" "" "Germline" "yes" "rs61751407" "" "" "" "" "" "pathogenic" "ACMG"
"0000735310" "21" "70" "1" "94528806" "94528806" "subst" "0.000150298" "03971" "ABCA4_000020" "g.94528806A>G" "" "Mena et al., 2020 submitted" "" "" "" "Germline" "yes" "" "" "" "" "" "" "likely pathogenic" "ACMG"
"0000735311" "21" "70" "1" "94508969" "94508969" "subst" "0.00168642" "03971" "ABCA4_000021" "g.94508969G>A" "" "Mena et al., 2020 submitted" "" "" "" "Germline" "yes" "" "" "" "" "" "" "likely pathogenic" "ACMG"
"0000735313" "10" "90" "1" "94473807" "94473807" "subst" "0.00480453" "03971" "ABCA4_000046" "g.94473807C>T" "" "Mena et al., 2020 submitted" "" "" "" "Germline" "yes" "rs1800553" "" "" "" "" "" "pathogenic" "ACMG"
"0000735314" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "03971" "ABCA4_000034" "g.94517254C>G" "" "Mena et al., 2020 submitted" "" "" "" "Germline" "?" "" "" "" "" "" "" "likely pathogenic" "ACMG"
"0000735315" "0" "50" "1" "94543389" "94543389" "subst" "0.000861235" "03971" "ABCA4_000312" "g.94543389C>T" "" "Mena et al., 2020 submitted" "" "" "" "Germline" "?" "rs1800548" "" "" "" "" "" "VUS" "ACMG"
"0000735316" "0" "70" "1" "94486895" "94486895" "subst" "3.24923E-5" "03971" "ABCA4_000484" "g.94486895C>T" "" "Mena et al., 2020 submitted" "" "" "" "Germline" "?" "rs61751403" "" "" "" "" "" "likely pathogenic" "ACMG"
"0000735317" "0" "50" "1" "94476377" "94476377" "subst" "0.00160473" "03971" "ABCA4_000411" "g.94476377C>T" "" "Mena et al., 2020 submitted" "" "" "" "Germline" "?" "" "" "" "" "" "" "VUS" "ACMG"
"0000735319" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "03971" "ABCA4_000031" "g.94508323G>A" "" "Mena et al., 2020 submitted" "" "" "" "Germline" "?" "" "" "" "" "" "" "pathogenic" "ACMG"
"0000735320" "0" "70" "1" "94466624" "94466624" "subst" "0.0014345" "03971" "ABCA4_000093" "g.94466624C>T" "" "Mena et al., 2020 submitted" "" "" "" "Germline" "?" "" "" "" "" "" "" "likely pathogenic" "ACMG"
"0000735321" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "03971" "ABCA4_000046" "g.94473807C>T" "" "Mena et al., 2020 submitted" "" "" "" "Germline" "?" "rs1800553" "" "" "" "" "" "pathogenic" "ACMG"
"0000735323" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "03971" "ABCA4_000034" "g.94517254C>G" "" "Mena et al., 2020 submitted" "" "" "" "Germline" "?" "" "" "" "" "" "" "likely pathogenic" "ACMG"
"0000735324" "0" "90" "1" "94495983" "94495983" "subst" "8.12348E-6" "03971" "ABCA4_000547" "g.94495983C>T" "" "Mena et al., 2020 submitted" "" "" "" "Germline" "?" "" "" "" "" "" "" "pathogenic" "ACMG"
"0000735326" "11" "70" "1" "94528806" "94528806" "subst" "0.000150298" "03971" "ABCA4_000020" "g.94528806A>G" "" "Mena et al., 2020 submitted" "" "" "" "Germline" "yes" "" "" "" "" "" "" "likely pathogenic" "ACMG"
"0000735328" "11" "70" "1" "94508969" "94508969" "subst" "0.00168642" "03971" "ABCA4_000021" "g.94508969G>A" "" "Mena et al., 2020 submitted" "" "" "" "Germline" "yes" "" "" "" "" "" "" "likely pathogenic" "ACMG"
"0000735329" "21" "90" "1" "94473807" "94473807" "subst" "0.00480453" "03971" "ABCA4_000046" "g.94473807C>T" "" "Mena et al., 2020 submitted" "" "" "" "Germline" "yes" "rs1800553" "" "" "" "" "" "pathogenic" "ACMG"
"0000735330" "0" "70" "1" "94476951" "94476951" "subst" "0.000236097" "03971" "ABCA4_000025" "g.94476951A>G" "" "Mena et al., 2020 submitted" "" "" "" "Germline" "?" "" "" "" "" "" "" "likely pathogenic" "ACMG"
"0000735331" "0" "90" "1" "94476351" "94476351" "subst" "0.000296608" "03971" "ABCA4_000996" "g.94476351C>T" "" "Mena et al., 2020 submitted" "" "" "" "Germline" "?" "rs61751407" "" "" "" "" "" "pathogenic" "ACMG"
"0000735334" "0" "70" "1" "94508322" "94508322" "subst" "1.62513E-5" "03971" "ABCA4_000128" "g.94508322C>T" "" "Mena et al., 2020 submitted" "" "" "" "Germline" "?" "" "" "" "" "" "" "likely pathogenic" "ACMG"
"0000735335" "0" "50" "1" "94496039" "94496039" "subst" "0.00157963" "03971" "ABCA4_000552" "g.94496039C>T" "" "Mena et al., 2020 submitted" "" "" "" "Germline" "?" "rs56357060" "" "" "" "" "" "VUS" "ACMG"
"0000735336" "0" "90" "1" "94497495" "94497495" "del" "0" "03971" "ABCA4_000584" "g.94497495del" "" "Mena et al., 2020 submitted" "" "" "" "Germline" "?" "" "0" "" "" "g.94031939del" "" "pathogenic" "ACMG"
"0000735337" "0" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "03971" "ABCA4_000997" "g.94495071C>T" "" "Mena et al., 2020 submitted" "" "" "" "Germline" "?" "" "" "" "" "" "" "likely pathogenic" "ACMG"
"0000735338" "0" "70" "1" "94466624" "94466624" "subst" "0.0014345" "03971" "ABCA4_000093" "g.94466624C>T" "" "Mena et al., 2020 submitted" "" "" "" "Germline" "?" "" "" "" "" "" "" "likely pathogenic" "ACMG"
"0000735339" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "03971" "ABCA4_000031" "g.94508323G>A" "" "Mena et al., 2020 submitted" "" "" "" "Germline" "?" "" "" "" "" "" "" "pathogenic" "ACMG"
"0000735340" "0" "70" "1" "94466624" "94466624" "subst" "0.0014345" "03971" "ABCA4_000093" "g.94466624C>T" "" "Mena et al., 2020 submitted" "" "" "" "Germline" "?" "" "" "" "" "" "" "likely pathogenic" "ACMG"
"0000735341" "0" "90" "1" "94490567" "94490567" "subst" "5.68528E-5" "03971" "ABCA4_000026" "g.94490567G>A" "" "Mena et al., 2020 submitted" "" "" "" "Germline" "?" "rs61750152" "" "" "" "" "" "pathogenic" "ACMG"
"0000735342" "0" "70" "1" "94476951" "94476951" "subst" "0.000236097" "03971" "ABCA4_000025" "g.94476951A>G" "" "Mena et al., 2020 submitted" "" "" "" "Germline" "?" "rs1800728" "" "" "" "" "" "likely pathogenic" "ACMG"
"0000735343" "0" "90" "1" "94476351" "94476351" "subst" "0.000296608" "03971" "ABCA4_000996" "g.94476351C>T" "" "Mena et al., 2020 submitted" "" "" "" "Germline" "?" "rs61751407" "" "" "" "" "" "pathogenic" "ACMG"
"0000735364" "0" "70" "1" "94522254" "94522254" "subst" "0" "03971" "ABCA4_000742" "g.94522254G>T" "" "Mena et al., 2020 submitted" "" "" "" "Germline" "yes" "" "" "" "" "" "" "likely pathogenic" "ACMG"
"0000735365" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "03971" "ABCA4_000054" "g.94506901C>A" "" "Mena et al., 2020 submitted" "" "" "" "Germline" "yes" "rs1801269" "" "" "" "" "" "pathogenic" "ACMG"
"0000735367" "0" "70" "1" "94522254" "94522254" "subst" "0" "03971" "ABCA4_000742" "g.94522254G>T" "" "Mena et al., 2020 submitted" "" "" "" "Germline" "yes" "" "" "" "" "" "" "likely pathogenic" "ACMG"
"0000735368" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "03971" "ABCA4_000054" "g.94506901C>A" "" "Mena et al., 2020 submitted" "" "" "" "Germline" "yes" "rs1801269" "" "" "" "" "" "pathogenic" "ACMG"
"0000735370" "0" "90" "1" "94543412" "94543413" "del" "0" "03971" "ABCA4_000313" "g.94543412_94543413del" "" "Mena et al., 2020 submitted" "" "" "" "Germline" "yes" "rs61748555" "0" "" "" "g.94077856_94077857del" "" "pathogenic" "ACMG"
"0000735372" "0" "90" "1" "94486896" "94486896" "subst" "3.65562E-5" "03971" "ABCA4_000085" "g.94486896G>A" "" "Mena et al., 2020 submitted" "" "" "" "Germline" "yes" "rs61751404" "" "" "" "" "" "pathogenic" "ACMG"
"0000735377" "0" "90" "1" "94543412" "94543413" "del" "0" "03971" "ABCA4_000313" "g.94543412_94543413del" "" "Mena et al., 2020 submitted" "" "" "" "Germline" "yes" "rs61748555" "0" "" "" "g.94077856_94077857del" "" "pathogenic" "ACMG"
"0000735379" "0" "90" "1" "94486896" "94486896" "subst" "3.65562E-5" "03971" "ABCA4_000085" "g.94486896G>A" "" "Mena et al., 2020 submitted" "" "" "" "Germline" "yes" "rs61751404" "" "" "" "" "" "pathogenic" "ACMG"
"0000735575" "0" "90" "1" "94528248" "94528248" "subst" "1.22148E-5" "00000" "ABCA4_000279" "g.94528248A>T" "" "{PMID:Haer-Wigman 2017:28224992}" "" "" "" "Germline" "" "" "0" "" "" "g.94062692A>T" "" "pathogenic" ""
"0000735576" "0" "90" "1" "94528248" "94528248" "subst" "1.22148E-5" "00000" "ABCA4_000279" "g.94528248A>T" "" "{PMID:Haer-Wigman 2017:28224992}" "" "" "" "Germline" "" "" "0" "" "" "g.94062692A>T" "" "pathogenic" ""
"0000735577" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "00000" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Haer-Wigman 2017:28224992}" "" "" "" "Germline" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic" ""
"0000735578" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "00000" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Haer-Wigman 2017:28224992}" "" "" "" "Germline" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic" ""
"0000735579" "0" "90" "1" "94476812" "94476812" "subst" "0" "00000" "ABCA4_000048" "g.94476812A>G" "" "{PMID:Haer-Wigman 2017:28224992}" "" "" "" "Germline" "" "" "0" "" "" "g.94011256A>G" "" "pathogenic" ""
"0000735580" "1" "90" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Haer-Wigman 2017:28224992}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic" ""
"0000735581" "0" "90" "1" "94564484" "94564484" "subst" "0.000110199" "00000" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Haer-Wigman 2017:28224992}" "" "" "" "Germline" "" "" "0" "" "" "g.94098928G>A" "" "pathogenic" ""
"0000735582" "0" "90" "1" "94463399" "94463413" "del" "0" "00000" "ABCA4_000851" "g.94463399_94463413del" "" "{PMID:Haer-Wigman 2017:28224992}" "" "" "" "Germline" "yes" "" "0" "" "" "g.93997843_93997857del" "" "pathogenic" ""
"0000735583" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "00000" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Haer-Wigman 2017:28224992}" "" "" "" "Germline" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic" ""
"0000735702" "0" "90" "1" "94484001" "94484001" "subst" "0" "00000" "ABCA4_000016" "g.94484001C>T" "" "{PMID:Haer-Wigman 2017:28224992}" "" "" "" "Germline" "" "" "0" "" "" "g.94018445C>T" "" "pathogenic" ""
"0000735703" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "00000" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Haer-Wigman 2017:28224992}" "" "" "" "Germline" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic" ""
"0000735704" "0" "90" "1" "94493000" "94493000" "subst" "0" "00000" "ABCA4_000015" "g.94493000C>T" "" "{PMID:Haer-Wigman 2017:28224992}" "" "" "" "Germline" "" "" "0" "" "" "g.94027444C>T" "" "pathogenic" ""
"0000735705" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Haer-Wigman 2017:28224992}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic" ""
"0000735706" "0" "90" "1" "94493000" "94493000" "subst" "0" "00000" "ABCA4_000015" "g.94493000C>T" "" "{PMID:Haer-Wigman 2017:28224992}" "" "" "" "Germline" "" "" "0" "" "" "g.94027444C>T" "" "pathogenic" ""
"0000735707" "2" "90" "1" "94473278" "94473278" "del" "3.25908E-5" "00000" "ABCA4_000392" "g.94473278del" "" "{PMID:Haer-Wigman 2017:28224992}" "" "" "" "Germline" "" "" "0" "" "" "g.94007722del" "" "pathogenic" ""
"0000735708" "0" "90" "1" "94493000" "94493000" "subst" "0" "00000" "ABCA4_000015" "g.94493000C>T" "" "{PMID:Haer-Wigman 2017:28224992}" "" "" "" "Germline" "" "" "0" "" "" "g.94027444C>T" "" "pathogenic" ""
"0000735709" "0" "90" "1" "94463399" "94463413" "del" "0" "00000" "ABCA4_000851" "g.94463399_94463413del" "" "{PMID:Haer-Wigman 2017:28224992}" "" "" "" "Germline" "yes" "" "0" "" "" "g.93997843_93997857del" "" "pathogenic" ""
"0000735710" "0" "90" "1" "94495009" "94495009" "dup" "0" "00000" "ABCA4_000087" "g.94495009dup" "" "{PMID:Haer-Wigman 2017:28224992}" "" "" "" "Germline" "" "" "0" "" "" "g.94029453dup" "" "pathogenic" ""
"0000735846" "1" "50" "1" "94568627" "94568627" "subst" "0.000422314" "00000" "ABCA4_000207" "g.94568627C>T" "" "{PMID:Riera 2017:28181551}" "" "[514G>A,2023G>A,6148G>C]" "" "Germline" "yes" "" "0" "" "" "g.94103071C>T" "" "VUS" ""
"0000735850" "1" "70" "1" "94526212" "94526212" "subst" "1.22012E-5" "00000" "ABCA4_000075" "g.94526212G>A" "" "{PMID:Riera 2017:28181551}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94060656G>A" "" "likely pathogenic" ""
"0000735851" "1" "70" "1" "94528266" "94528266" "subst" "4.477E-5" "00000" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Riera 2017:28181551}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94062710G>A" "" "likely pathogenic" ""
"0000735852" "1" "70" "1" "94497474" "94497474" "subst" "0" "00000" "ABCA4_000583" "g.94497474C>A" "" "{PMID:Riera 2017:28181551}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94031918C>A" "" "likely pathogenic" ""
"0000735854" "1" "70" "1" "94476942" "94476942" "subst" "0" "00000" "ABCA4_001487" "g.94476942C>A" "" "{PMID:Riera 2017:28181551}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94011386C>A" "" "likely pathogenic" ""
"0000735866" "2" "70" "1" "94508435" "94508436" "dup" "0" "00000" "ABCA4_000998" "g.94508435_94508436dup" "" "{PMID:Riera 2017:28181551}" "" "3211_3212insGT" "" "Germline" "yes" "" "0" "" "" "g.94042879_94042880dup" "" "likely pathogenic" ""
"0000735870" "2" "70" "1" "94486895" "94486895" "subst" "3.24923E-5" "00000" "ABCA4_000484" "g.94486895C>T" "" "{PMID:Riera 2017:28181551}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94021339C>T" "" "likely pathogenic" ""
"0000735871" "2" "70" "1" "94474323" "94474323" "subst" "2.03034E-5" "00000" "ABCA4_000156" "g.94474323A>G" "" "{PMID:Riera 2017:28181551}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94008767A>G" "" "likely pathogenic" ""
"0000735872" "2" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Riera 2017:28181551}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000735874" "2" "70" "1" "94471026" "94471026" "subst" "1.21925E-5" "00000" "ABCA4_000791" "g.94471026G>A" "" "{PMID:Riera 2017:28181551}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94005470G>A" "" "likely pathogenic" ""
"0000735879" "1" "50" "1" "94526230" "94526230" "subst" "7.32136E-5" "00006" "ABCA4_000760" "g.94526230C>T" "" "{PMID:Riera 2017:28181551}" "" "[514G>A,2023G>A,6148G>C]" "" "Germline" "" "" "0" "" "" "" "" "VUS" ""
"0000735880" "1" "50" "1" "94467548" "94467548" "subst" "0.00295661" "00006" "ABCA4_000788" "g.94467548C>G" "" "{PMID:Riera 2017:28181551}" "" "[514G>A,2023G>A,6148G>C]" "" "Germline" "" "" "0" "" "" "" "" "VUS" ""
"0000735882" "1" "70" "1" "94586550" "94586550" "subst" "1.21864E-5" "02485" "ABCA4_000037" "g.94586550G>A" "" "{PMID:Bravo-Gil 2017:28157192}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94120994G>A" "" "likely pathogenic" ""
"0000735883" "3" "70" "1" "94506901" "94506901" "subst" "0.000308665" "02485" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Bravo-Gil 2017:28157192}" "" "" "" "Germline" "" "" "0" "" "" "g.94041345C>A" "" "likely pathogenic" ""
"0000735950" "2" "70" "1" "94544895" "94544895" "subst" "1.62455E-5" "02485" "ABCA4_000329" "g.94544895G>A" "" "{PMID:Bravo-Gil 2017:28157192}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94079339G>A" "" "likely pathogenic" ""
"0000735980" "1" "90" "1" "94473807" "94473807" "subst" "0.00480453" "02485" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Bravo-Gil 2017:28157192}" "" "" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic" ""
"0000735981" "1" "90" "1" "94473287" "94473287" "subst" "0.00293818" "02485" "ABCA4_000395" "g.94473287G>A" "" "{PMID:Bravo-Gil 2017:28157192}" "" "" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.94007731G>A" "" "pathogenic" ""
"0000735982" "1" "50" "1" "94467548" "94467548" "subst" "0.00295661" "02485" "ABCA4_000788" "g.94467548C>G" "" "{PMID:Bravo-Gil 2017:28157192}" "" "" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.94001992C>G" "" "VUS" ""
"0000735983" "1" "50" "1" "94467548" "94467548" "subst" "0.00295661" "02485" "ABCA4_000788" "g.94467548C>G" "" "{PMID:Bravo-Gil 2017:28157192}" "" "" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.94001992C>G" "" "VUS" ""
"0000735984" "1" "50" "1" "94467548" "94467548" "subst" "0.00295661" "02485" "ABCA4_000788" "g.94467548C>G" "" "{PMID:Bravo-Gil 2017:28157192}" "" "" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.94001992C>G" "" "VUS" ""
"0000736076" "1" "70" "1" "94528266" "94528266" "subst" "4.477E-5" "00000" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Huang 2018:29641573}" "" "" "" "Germline" "" "" "0" "" "" "g.94062710G>A" "" "likely pathogenic" ""
"0000736096" "0" "70" "1" "94471056" "94471056" "subst" "2.84398E-5" "00000" "ABCA4_000050" "g.94471056G>A" "" "{PMID:Huang 2018:29641573}" "" "" "" "Germline" "" "" "0" "" "" "g.94005500G>A" "" "likely pathogenic" ""
"0000736100" "1" "70" "1" "94480241" "94480241" "subst" "7.71705E-5" "00000" "ABCA4_000446" "g.94480241G>A" "" "{PMID:Huang 2018:29641573}" "" "" "" "Germline" "" "" "0" "" "" "g.94014685G>A" "" "likely pathogenic" ""
"0000736107" "0" "70" "1" "94466655" "94466655" "subst" "0" "00000" "ABCA4_000842" "g.94466655G>A" "" "{PMID:Huang 2018:29641573}" "" "" "" "Germline" "" "" "0" "" "" "g.94001099G>A" "" "likely pathogenic" ""
"0000736110" "1" "70" "1" "94471061" "94471061" "subst" "0" "00000" "ABCA4_001247" "g.94471061G>A" "" "{PMID:Huang 2018:29641573}" "" "" "" "Germline" "" "" "0" "" "" "g.94005505G>A" "" "likely pathogenic" ""
"0000736116" "1" "70" "1" "94476901" "94476901" "subst" "6.50005E-5" "00000" "ABCA4_001486" "g.94476901A>G" "" "{PMID:Huang 2018:29641573}" "" "" "" "Germline" "" "" "0" "" "" "g.94011345A>G" "" "likely pathogenic" ""
"0000736124" "2" "70" "1" "94463554" "94463554" "subst" "0" "00000" "ABCA4_001485" "g.94463554G>A" "" "{PMID:Huang 2018:29641573}" "" "" "" "Germline" "" "" "0" "" "" "g.93997998G>A" "" "likely pathogenic" ""
"0000736137" "0" "70" "1" "94497428" "94497428" "subst" "1.22128E-5" "00000" "ABCA4_001489" "g.94497428T>C" "" "{PMID:Huang 2018:29641573}" "" "" "" "Germline" "" "" "0" "" "" "g.94031872T>C" "" "likely pathogenic" ""
"0000736138" "0" "70" "1" "94574258" "94574258" "subst" "0.00115728" "00000" "ABCA4_001132" "g.94574258T>A" "" "{PMID:Huang 2018:29641573}" "" "" "" "Germline" "" "" "0" "" "" "g.94108702T>A" "" "likely pathogenic" ""
"0000736143" "2" "70" "1" "94480192" "94480192" "subst" "0" "00000" "ABCA4_001488" "g.94480192G>C" "" "{PMID:Huang 2018:29641573}" "" "" "" "Germline" "" "" "0" "" "" "g.94014636G>C" "" "likely pathogenic" ""
"0000736148" "0" "70" "1" "94578589" "94578594" "del" "0" "00000" "ABCA4_000249" "g.94578589_94578594del" "" "{PMID:Huang 2018:29641573}" "" "c.101_106delCTTTAT (Leu34_Tyr35del)" "" "Germline" "" "" "0" "" "" "g.94113033_94113038del" "" "likely pathogenic" ""
"0000736149" "0" "70" "1" "94510265" "94510265" "subst" "0" "00000" "ABCA4_001491" "g.94510265C>A" "" "{PMID:Huang 2018:29641573}" "" "" "" "Germline" "" "" "0" "" "" "g.94044709C>A" "" "likely pathogenic" ""
"0000736152" "2" "70" "1" "94564378" "94564378" "subst" "0" "00000" "ABCA4_000368" "g.94564378T>A" "" "{PMID:Huang 2018:29641573}" "" "" "" "Germline" "" "" "0" "" "" "g.94098822T>A" "" "likely pathogenic" ""
"0000736156" "2" "70" "1" "94510254" "94510254" "subst" "7.71517E-5" "00000" "ABCA4_001490" "g.94510254C>T" "" "{PMID:Huang 2018:29641573}" "" "" "" "Germline" "" "" "0" "" "" "g.94044698C>T" "" "likely pathogenic" ""
"0000736165" "3" "90" "1" "94578597" "94578597" "subst" "0" "00006" "ABCA4_000250" "g.94578597C>T" "" "{PMID:Todorova 2017:28147405}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000736168" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "00006" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Todorova 2017:28147405}" "" "588G>A (G1961E)" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000736169" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "00006" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Todorova 2017:28147405}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000736170" "1" "90" "1" "94528806" "94528806" "subst" "0.000150298" "00006" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Todorova 2017:28147405}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000736172" "3" "90" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Biswas 2017:28130426}" "" "" "" "Germline" "" "rs1800553" "0" "" "" "g.94008251C>T" "" "pathogenic" ""
"0000736173" "1" "90" "1" "94480241" "94480241" "subst" "7.71705E-5" "00000" "ABCA4_000446" "g.94480241G>A" "" "{PMID:Biswas 2017:28130426}" "" "" "" "Germline" "" "rs760549861" "0" "" "" "g.94014685G>A" "" "pathogenic" ""
"0000736181" "1" "90" "1" "94476351" "94476351" "subst" "0.000296608" "00000" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Bernardis 2016:28127548}" "" "" "" "Germline" "" "" "0" "" "" "g.94010795C>T" "" "pathogenic" ""
"0000736182" "1" "90" "1" "94526154" "94526154" "subst" "4.06441E-6" "00000" "ABCA4_000752" "g.94526154C>T" "" "{PMID:Bernardis 2016:28127548}" "" "" "" "Germline" "" "" "0" "" "" "g.94060598C>T" "" "pathogenic" ""
"0000736183" "1" "90" "1" "94526154" "94526154" "subst" "4.06441E-6" "00000" "ABCA4_000752" "g.94526154C>T" "" "{PMID:Bernardis 2016:28127548}" "" "" "" "Germline" "" "" "0" "" "" "g.94060598C>T" "" "pathogenic" ""
"0000736184" "1" "90" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Bernardis 2016:28127548}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic" ""
"0000736185" "1" "90" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Bernardis 2016:28127548}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic" ""
"0000736186" "1" "90" "1" "94520793" "94520793" "subst" "8.13292E-6" "00000" "ABCA4_000723" "g.94520793A>T" "" "{PMID:Bernardis 2016:28127548}" "" "" "" "Germline" "" "" "0" "" "" "g.94055237A>T" "" "pathogenic" ""
"0000736187" "1" "90" "1" "94466426" "94466426" "subst" "1.62433E-5" "00000" "ABCA4_000124" "g.94466426G>A" "" "{PMID:Bernardis 2016:28127548}" "" "" "" "Germline" "" "" "0" "" "" "g.94000870G>A" "" "pathogenic" ""
"0000736188" "1" "90" "1" "94512551" "94512551" "subst" "1.21863E-5" "00000" "ABCA4_001492" "g.94512551G>A" "" "{PMID:Bernardis 2016:28127548}" "" "" "" "Germline" "" "" "0" "" "" "g.94046995G>A" "" "pathogenic" ""
"0000736189" "1" "90" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Bernardis 2016:28127548}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic" ""
"0000736190" "1" "90" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Bernardis 2016:28127548}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic" ""
"0000736191" "3" "90" "1" "94512499" "94512499" "subst" "0.000130029" "00000" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Bernardis 2016:28127548}" "" "" "" "Germline" "" "" "0" "" "" "g.94046943T>C" "" "pathogenic" ""
"0000736192" "1" "90" "1" "94481322" "94481322" "subst" "0" "00000" "ABCA4_000129" "g.94481322G>T" "" "{PMID:Bernardis 2016:28127548}" "" "" "" "Germline" "" "" "0" "" "" "g.94015766G>T" "" "pathogenic" ""
"0000736235" "2" "90" "1" "94476951" "94476951" "subst" "0.000236097" "00000" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Biswas 2017:28130426}" "" "" "" "Germline" "" "rs1800728" "0" "" "" "g.94011395A>G" "" "pathogenic" ""
"0000736241" "2" "90" "1" "94543426" "94543426" "del" "0" "00000" "ABCA4_000314" "g.94543426del" "" "{PMID:Bernardis 2016:28127548}" "" "c.1375delA" "" "Germline" "" "" "0" "" "" "g.94077870del" "" "pathogenic" ""
"0000736242" "2" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "00000" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Bernardis 2016:28127548}" "" "" "" "Germline" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic" ""
"0000736243" "2" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "00000" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Bernardis 2016:28127548}" "" "" "" "Germline" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic" ""
"0000736244" "2" "90" "1" "94564484" "94564484" "subst" "0.000110199" "00000" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Bernardis 2016:28127548}" "" "" "" "Germline" "" "" "0" "" "" "g.94098928G>A" "" "pathogenic" ""
"0000736245" "2" "90" "1" "94528806" "94528806" "subst" "0.000150298" "00000" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Bernardis 2016:28127548}" "" "" "" "Germline" "" "" "0" "" "" "g.94063250A>G" "" "pathogenic" ""
"0000736246" "2" "90" "1" "94522239" "94522239" "subst" "2.03305E-5" "00000" "ABCA4_000736" "g.94522239A>T" "" "{PMID:Bernardis 2016:28127548}" "" "" "" "Germline" "" "" "0" "" "" "g.94056683A>T" "" "pathogenic" ""
"0000736247" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Bernardis 2016:28127548}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic" ""
"0000736248" "2" "90" "1" "94522239" "94522239" "subst" "2.03305E-5" "00000" "ABCA4_000736" "g.94522239A>T" "" "{PMID:Bernardis 2016:28127548}" "" "" "" "Germline" "" "" "0" "" "" "g.94056683A>T" "" "pathogenic" ""
"0000736249" "2" "90" "1" "94496666" "94496666" "subst" "0.000219568" "00000" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Bernardis 2016:28127548}" "" "" "" "Germline" "" "" "0" "" "" "g.94031110G>A" "" "pathogenic" ""
"0000736250" "2" "90" "1" "94520705" "94520705" "subst" "0" "00000" "ABCA4_000714" "g.94520705T>C" "" "{PMID:Bernardis 2016:28127548}" "" "" "" "Germline" "" "" "0" "" "" "g.94055149T>C" "" "pathogenic" ""
"0000736251" "2" "90" "1" "94522239" "94522239" "subst" "2.03305E-5" "00000" "ABCA4_000736" "g.94522239A>T" "" "{PMID:Bernardis 2016:28127548}" "" "" "" "Germline" "" "" "0" "" "" "g.94056683A>T" "" "pathogenic" ""
"0000736513" "3" "90" "1" "94474323" "94474323" "subst" "2.03034E-5" "00000" "ABCA4_000156" "g.94474323A>G" "" "{PMID:Zolnikova 2017:27939946}" "" "" "" "Germline" "" "rs61753033" "0" "" "" "g.94008767A>G" "" "pathogenic" ""
"0000736514" "3" "70" "1" "94512565" "94512565" "subst" "0.030364" "00000" "ABCA4_000002" "g.94512565C>T" "" "{PMID:Zolnikova 2017:27939946}" "" "" "" "Germline" "" "rs1801581" "0" "" "" "g.94047009C>T" "" "likely pathogenic" ""
"0000736515" "1" "90" "1" "94526296" "94526296" "subst" "1.64555E-5" "00000" "ABCA4_000768" "g.94526296G>A" "" "{PMID:Zolnikova 2017:27939946}" "" "" "" "Germline" "" "rs61749420" "0" "" "" "g.94060740G>A" "" "pathogenic" ""
"0000736516" "0" "90" "1" "94512499" "94512499" "subst" "0.000130029" "00000" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Zolnikova 2017:27939946}" "" "" "" "Germline" "" "rs201471607" "0" "" "" "g.94046943T>C" "" "pathogenic" ""
"0000736517" "0" "70" "1" "94512565" "94512565" "subst" "0.030364" "00000" "ABCA4_000002" "g.94512565C>T" "" "{PMID:Zolnikova 2017:27939946}" "" "" "" "Germline" "" "rs1801581" "0" "" "" "g.94047009C>T" "" "likely pathogenic" ""
"0000736518" "1" "90" "1" "94520689" "94520689" "subst" "0" "00000" "ABCA4_000711" "g.94520689C>T" "" "{PMID:Zolnikova 2017:27939946}" "" "" "" "Germline" "" "rs61749438" "0" "" "" "g.94055133C>T" "" "pathogenic" ""
"0000736520" "1" "90" "1" "94512602" "94512602" "subst" "0.000369717" "00000" "ABCA4_000052" "g.94512602C>T" "" "{PMID:Zolnikova 2017:27939946}" "" "" "" "Germline" "" "rs58331765" "0" "" "" "g.94047046C>T" "" "pathogenic" ""
"0000736521" "1" "90" "1" "94471065" "94471065" "subst" "0.000194997" "00000" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Zolnikova 2017:27939946}" "" "" "" "Germline" "" "rs61751408" "0" "" "" "g.94005509G>A" "" "pathogenic" ""
"0000736522" "1" "90" "1" "94517254" "94517254" "subst" "0.00442654" "00000" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Zolnikova 2017:27939946}" "" "" "" "Germline" "" "rs76157638" "0" "" "" "g.94051698C>G" "" "pathogenic" ""
"0000736523" "1" "90" "1" "94496666" "94496666" "subst" "0.000219568" "00000" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Zolnikova 2017:27939946}" "" "" "" "Germline" "" "rs61750130" "0" "" "" "g.94031110G>A" "" "pathogenic" ""
"0000736524" "1" "90" "1" "94528806" "94528806" "subst" "0.000150298" "00000" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Zolnikova 2017:27939946}" "" "" "" "Germline" "" "rs61751392" "0" "" "" "g.94063250A>G" "" "pathogenic" ""
"0000736525" "1" "90" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Zolnikova 2017:27939946}" "" "" "" "Germline" "" "rs1800553" "0" "" "" "g.94008251C>T" "" "pathogenic" ""
"0000736526" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "00000" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Zolnikova 2017:27939946}" "" "" "" "Germline" "" "rs61751374" "0" "" "" "g.94043413G>A" "" "pathogenic" ""
"0000736527" "1" "90" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Zolnikova 2017:27939946}" "" "" "" "Germline" "" "rs1800553" "0" "" "" "g.94008251C>T" "" "pathogenic" ""
"0000736528" "1" "90" "1" "94466628" "94466628" "subst" "0.000109748" "00000" "ABCA4_000094" "g.94466628G>A" "" "{PMID:Zolnikova 2017:27939946}" "" "" "" "Germline" "" "rs61750648" "0" "" "" "g.94001072G>A" "" "pathogenic" ""
"0000736529" "1" "70" "1" "94577066" "94577066" "subst" "0" "00000" "ABCA4_000230" "g.94577066A>T" "" "{PMID:Zolnikova 2017:27939946}" "" "" "" "Germline" "" "rs61748527" "0" "" "" "g.94111510A>T" "" "likely pathogenic" ""
"0000736530" "1" "90" "1" "0" "0" "" "0" "00000" "NPHS2_000000" "g.?" "" "{PMID:Zolnikova 2017:27939946}" "" "5226delC" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000736531" "1" "50" "1" "94520717" "94520717" "subst" "0" "00000" "ABCA4_001367" "g.94520717T>A" "" "{PMID:Zolnikova 2017:27939946}" "" "" "" "Germline" "" "" "0" "" "" "g.94055161T>A" "" "VUS" ""
"0000736532" "1" "90" "1" "94546240" "94546240" "del" "0" "00000" "ABCA4_000000" "g.94546240del" "" "{PMID:Zolnikova 2017:27939946}" "" "893delG" "" "Germline" "" "" "0" "" "" "g.94080684del" "" "pathogenic" ""
"0000736533" "1" "90" "1" "94528265" "94528265" "subst" "2.44212E-5" "00000" "ABCA4_000284" "g.94528265C>T" "" "{PMID:Zolnikova 2017:27939946}" "" "" "" "Germline" "" "rs61749410" "0" "" "" "g.94062709C>T" "" "pathogenic" ""
"0000736534" "1" "90" "1" "94509018" "94509018" "subst" "8.12869E-6" "00000" "ABCA4_000659" "g.94509018C>T" "" "{PMID:Zolnikova 2017:27939946}" "" "" "" "Germline" "" "rs61749459" "0" "" "" "g.94043462C>T" "" "pathogenic" ""
"0000736535" "1" "90" "1" "94486922" "94486922" "subst" "0" "00000" "ABCA4_000044" "g.94486922A>G" "" "{PMID:Zolnikova 2017:27939946}" "" "" "" "Germline" "" "rs61750158" "0" "" "" "g.94021366A>G" "" "pathogenic" ""
"0000736536" "1" "90" "1" "94564416" "94564417" "ins" "0" "00000" "ABCA4_001512" "g.94564416_94564417insGAT" "" "{PMID:Zolnikova 2017:27939946}" "" "702insATC" "" "Germline" "" "" "0" "" "" "g.94098860_94098861insGAT" "" "pathogenic" ""
"0000736537" "3" "90" "1" "94544234" "94544234" "subst" "0.255245" "00000" "ABCA4_000322" "g.94544234T>C" "" "{PMID:Zolnikova 2017:27939946}" "" "" "" "Germline" "" "rs3112831" "0" "" "" "g.94078678T>C" "" "pathogenic" ""
"0000736538" "1" "70" "1" "94520702" "94520702" "subst" "0" "00000" "ABCA4_000713" "g.94520702C>T" "" "{PMID:Zolnikova 2017:27939946}" "" "" "" "Germline" "" "rs61749436" "0" "" "" "g.94055146C>T" "" "likely pathogenic" ""
"0000736539" "3" "70" "1" "94481401" "94481401" "subst" "4.09199E-6" "00000" "ABCA4_000460" "g.94481401A>G" "" "{PMID:Zolnikova 2017:27939946}" "" "" "" "Germline" "" "rs61750568" "0" "" "" "g.94015845A>G" "" "likely pathogenic" ""
"0000736540" "1" "70" "1" "94508350" "94508350" "subst" "0" "00000" "ABCA4_000633" "g.94508350A>G" "" "{PMID:Zolnikova 2017:27939946}" "" "" "" "Germline" "" "rs61750119" "0" "" "" "g.94042794A>G" "" "likely pathogenic" ""
"0000736541" "1" "70" "1" "0" "0" "" "0" "00000" "NPHS2_000000" "g.?" "" "{PMID:Zolnikova 2017:27939946}" "" "3896G>T intronic" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000736542" "1" "90" "1" "94512589" "94512589" "subst" "4.06184E-6" "00000" "ABCA4_000696" "g.94512589A>G" "" "{PMID:Zolnikova 2017:27939946}" "" "" "" "Germline" "" "rs61749444" "0" "" "" "g.94047033A>G" "" "pathogenic" ""
"0000736543" "1" "90" "1" "94528247" "94528247" "subst" "0" "00000" "ABCA4_000278" "g.94528247A>T" "" "{PMID:Zolnikova 2017:27939946}" "" "Phe608Ile" "" "Germline" "" "rs61752399" "0" "" "" "g.94062691A>T" "" "pathogenic" ""
"0000736544" "1" "90" "1" "94546126" "94546126" "subst" "2.03383E-5" "00000" "ABCA4_000343" "g.94546126G>C" "" "{PMID:Zolnikova 2017:27939946}" "" "" "" "Germline" "" "rs61748547" "0" "" "" "g.94080570G>C" "" "pathogenic" ""
"0000736545" "1" "90" "1" "94544146" "94544146" "del" "0" "00000" "ABCA4_001508" "g.94544146del" "" "{PMID:Zolnikova 2017:27939946}" "" "1356delA" "" "Germline" "" "" "0" "" "" "g.94078590del" "" "pathogenic" ""
"0000736546" "1" "90" "1" "94544159" "94544161" "del" "0" "00000" "ABCA4_001509" "g.94544159_94544161del" "" "{PMID:Zolnikova 2017:27939946}" "" "1341delGAT" "" "Germline" "" "" "0" "" "" "g.94078603_94078605del" "" "pathogenic" ""
"0000736547" "1" "90" "1" "94574147" "94574147" "subst" "8.12236E-6" "00000" "ABCA4_000213" "g.94574147G>A" "" "{PMID:Zolnikova 2017:27939946}" "" "" "" "Germline" "" "rs62646860" "0" "" "" "g.94108591G>A" "" "pathogenic" ""
"0000736548" "1" "90" "1" "94577065" "94577066" "ins" "0" "00000" "ABCA4_001514" "g.94577065_94577066insTTTTC" "" "{PMID:Zolnikova 2017:27939946}" "" "231insGAAAA" "" "Germline" "" "" "0" "" "" "g.94111509_94111510insTTTTC" "" "pathogenic" ""
"0000736549" "1" "90" "1" "94528713" "94528713" "subst" "4.87381E-5" "00000" "ABCA4_000072" "g.94528713C>T" "" "{PMID:Zolnikova 2017:27939946}" "" "" "" "Germline" "" "rs61748559" "0" "" "" "g.94063157C>T" "" "pathogenic" ""
"0000736550" "2" "70" "1" "94577093" "94577093" "subst" "8.12394E-6" "00000" "ABCA4_000147" "g.94577093G>A" "" "{PMID:Zolnikova 2017:27939946}" "" "" "" "Germline" "" "" "0" "" "" "g.94111537G>A" "" "likely pathogenic" ""
"0000736551" "0" "70" "1" "94512565" "94512565" "subst" "0.030364" "00000" "ABCA4_000002" "g.94512565C>T" "" "{PMID:Zolnikova 2017:27939946}" "" "" "" "Germline" "" "rs1801581" "0" "" "" "g.94047009C>T" "" "likely pathogenic" ""
"0000736552" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "00000" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Zolnikova 2017:27939946}" "" "" "" "Germline" "" "rs76157638" "0" "" "" "g.94051698C>G" "" "pathogenic" ""
"0000736553" "0" "90" "1" "94528806" "94528806" "subst" "0.000150298" "00000" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Zolnikova 2017:27939946}" "" "" "" "Germline" "" "rs61751392" "0" "" "" "g.94063250A>G" "" "pathogenic" ""
"0000736554" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "00000" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Zolnikova 2017:27939946}" "" "" "" "Germline" "" "rs61751374" "0" "" "" "g.94043413G>A" "" "pathogenic" ""
"0000736555" "0" "90" "1" "94508367" "94508367" "subst" "0" "00000" "ABCA4_001502" "g.94508367T>G" "" "{PMID:Zolnikova 2017:27939946}" "" "A3278A>C" "" "Germline" "" "rs61752418" "0" "" "" "g.94042811T>G" "" "pathogenic" ""
"0000736559" "2" "70" "1" "94474389" "94474389" "subst" "0" "00000" "ABCA4_001493" "g.94474389T>A" "" "{PMID:Zolnikova 2017:27939946}" "" "" "" "Germline" "" "" "0" "" "" "g.94008833T>A" "" "likely pathogenic" ""
"0000736603" "1" "10" "1" "94577002" "94577002" "subst" "7.32398E-5" "00000" "ABCA4_000987" "g.94577002G>C" "" "{PMID:Ramkumar 2017:28005406}" "" "" "variant other allele not reported" "Germline" "" "rs145133167" "0" "" "" "g.94111446G>C" "" "benign" ""
"0000736604" "1" "90" "1" "94568577" "94568577" "del" "0" "00000" "ABCA4_000201" "g.94568577del" "" "{PMID:Ramkumar 2017:28005406}" "" "564delA" "variant other allele not reported" "Germline" "" "" "0" "" "" "g.94103021del" "" "pathogenic" ""
"0000736605" "1" "70" "1" "94506892" "94506892" "subst" "0" "00000" "ABCA4_001501" "g.94506892A>G" "" "{PMID:Ramkumar 2017:28005406}" "" "" "variant other allele not reported" "Germline" "" "" "0" "" "" "g.94041336A>G" "" "likely pathogenic" ""
"0000736606" "1" "10" "1" "94544880" "94544880" "subst" "4.06101E-6" "00000" "ABCA4_001510" "g.94544880T>A" "" "{PMID:Ramkumar 2017:28005406}" "" "" "variant other allele not reported" "Germline" "" "" "0" "" "" "g.94079324T>A" "" "benign" ""
"0000736607" "1" "70" "1" "94564441" "94564441" "subst" "0.000203171" "00000" "ABCA4_001513" "g.94564441C>A" "" "{PMID:Ramkumar 2017:28005406}" "" "" "variant other allele not reported" "Germline" "" "rs144310835" "0" "" "" "g.94098885C>A" "" "likely pathogenic" ""
"0000736608" "1" "10" "1" "94505659" "94505659" "subst" "0.000942724" "00000" "ABCA4_000921" "g.94505659C>A" "" "{PMID:Ramkumar 2017:28005406}" "" "" "variant other allele not reported" "Germline" "" "rs75267647" "0" "" "" "g.94040103C>A" "" "benign" ""
"0000736609" "1" "70" "1" "94485197" "94485197" "subst" "1.23624E-5" "00000" "ABCA4_001496" "g.94485197G>T" "" "{PMID:Ramkumar 2017:28005406}" "" "" "variant other allele not reported" "Germline" "" "rs374343397" "0" "" "" "g.94019641G>T" "" "likely pathogenic" ""
"0000736610" "1" "70" "1" "94485196" "94485196" "subst" "8.239E-6" "00000" "ABCA4_000469" "g.94485196T>C" "" "{PMID:Ramkumar 2017:28005406}" "" "5137A>G (Gln1713Arg)" "variant other allele not reported" "Germline" "" "rs374343397" "0" "" "" "g.94019640T>C" "" "likely pathogenic" ""
"0000736611" "3" "70" "1" "94508366" "94508366" "subst" "0" "00000" "ABCA4_000638" "g.94508366G>T" "" "{PMID:Ramkumar 2017:28005406}" "" "" "" "Germline" "" "rs61752418" "0" "" "" "g.94042810G>T" "" "likely pathogenic" ""
"0000736612" "1" "70" "1" "94495036" "94495036" "subst" "0" "00000" "ABCA4_001499" "g.94495036A>C" "" "{PMID:Ramkumar 2017:28005406}" "" "" "variant other allele not reported" "Germline" "" "rs61750149" "0" "" "" "g.94029480A>C" "" "likely pathogenic" ""
"0000736613" "1" "70" "1" "94480112" "94480112" "subst" "0" "00000" "ABCA4_001494" "g.94480112A>G" "" "{PMID:Ramkumar 2017:28005406}" "" "" "variant other allele not reported" "Germline" "" "" "0" "" "" "g.94014556A>G" "" "likely pathogenic" ""
"0000736614" "1" "90" "1" "94548913" "94548913" "subst" "0" "00000" "ABCA4_000359" "g.94548913G>A" "" "{PMID:Ramkumar 2017:28005406}" "" "" "variant other allele not reported" "Germline" "" "" "0" "" "" "g.94083357G>A" "" "pathogenic" ""
"0000736615" "1" "70" "1" "94528751" "94528751" "subst" "0" "00000" "ABCA4_001506" "g.94528751C>G" "" "{PMID:Ramkumar 2017:28005406}" "" "" "variant other allele not reported" "Germline" "" "" "0" "" "" "g.94063195C>G" "" "likely pathogenic" ""
"0000736616" "1" "10" "1" "94528209" "94528209" "subst" "0.000418852" "00000" "ABCA4_001505" "g.94528209T>C" "" "{PMID:Ramkumar 2017:28005406}" "" "" "variant other allele not reported" "Germline" "" "rs141122703" "0" "" "" "g.94062653T>C" "" "benign" ""
"0000736617" "3" "70" "1" "94512541" "94512541" "subst" "0" "00000" "ABCA4_000066" "g.94512541A>G" "" "{PMID:Ramkumar 2017:28005406}" "" "" "" "Germline" "" "" "0" "" "" "g.94046985A>G" "" "likely pathogenic" ""
"0000736618" "3" "10" "1" "94490588" "94490588" "subst" "6.90361E-5" "00000" "ABCA4_001498" "g.94490588G>A" "" "{PMID:Ramkumar 2017:28005406}" "" "" "" "Germline" "" "rs115859773" "0" "" "" "g.94025032G>A" "" "benign" ""
"0000736619" "1" "50" "1" "94480168" "94480168" "subst" "9.7473E-5" "00000" "ABCA4_001495" "g.94480168A>G" "" "{PMID:Ramkumar 2017:28005406}" "" "" "variant other allele not reported" "Germline" "" "rs147187030" "0" "" "" "g.94014612A>G" "" "VUS" ""
"0000736620" "1" "90" "1" "94497591" "94497591" "subst" "0" "00000" "ABCA4_000587" "g.94497591G>A" "" "{PMID:Ramkumar 2017:28005406}" "" "" "variant other allele not reported" "Germline" "" "" "0" "" "" "g.94032035G>A" "" "pathogenic" ""
"0000736621" "1" "70" "1" "94508434" "94508434" "subst" "8.12236E-6" "00000" "ABCA4_001503" "g.94508434A>G" "" "{PMID:Ramkumar 2017:28005406}" "" "" "variant other allele not reported" "Germline" "" "" "0" "" "" "g.94042878A>G" "" "likely pathogenic" ""
"0000736622" "1" "70" "1" "94496010" "94496010" "subst" "1.62434E-5" "00000" "ABCA4_000549" "g.94496010G>T" "" "{PMID:Ramkumar 2017:28005406}" "" "" "variant other allele not reported" "Germline" "" "" "0" "" "" "g.94030454G>T" "" "likely pathogenic" ""
"0000736623" "1" "90" "1" "94485159" "94485159" "dup" "0" "00000" "ABCA4_001453" "g.94485159dup" "" "{PMID:Ramkumar 2017:28005406}" "" "5176insG" "variant other allele not reported" "Germline" "" "" "0" "" "" "g.94019603dup" "" "pathogenic" ""
"0000736624" "1" "50" "1" "94576968" "94576968" "subst" "0.519705" "00000" "ABCA4_000949" "g.94576968T>C" "" "{PMID:Ramkumar 2017:28005406}" "" "" "variant other allele not reported" "Germline" "" "" "0" "" "" "g.94111412T>C" "" "VUS" ""
"0000736625" "1" "90" "1" "94496589" "94496589" "del" "0" "00000" "ABCA4_001500" "g.94496589del" "" "{PMID:Ramkumar 2017:28005406}" "" "4216delC" "variant other allele not reported" "Germline" "" "" "0" "" "" "g.94031033del" "" "pathogenic" ""
"0000736626" "1" "70" "1" "94510202" "94510202" "subst" "0" "00000" "ABCA4_001504" "g.94510202C>A" "" "{PMID:Ramkumar 2017:28005406}" "" "" "variant other allele not reported" "Germline" "" "" "0" "" "" "g.94044646C>A" "" "likely pathogenic" ""
"0000736627" "1" "90" "1" "94564463" "94564463" "subst" "0" "00000" "ABCA4_000381" "g.94564463T>A" "" "{PMID:Ramkumar 2017:28005406}" "" "" "variant other allele not reported" "Germline" "" "" "0" "" "" "g.94098907T>A" "" "pathogenic" ""
"0000736628" "1" "70" "1" "94510248" "94510248" "subst" "0.000544123" "00000" "ABCA4_000107" "g.94510248C>G" "" "{PMID:Ramkumar 2017:28005406}" "" "" "variant other allele not reported" "Germline" "" "rs61749455" "0" "" "" "g.94044692C>G" "" "likely pathogenic" ""
"0000736629" "1" "70" "1" "94543271" "94543271" "subst" "0" "00000" "ABCA4_001507" "g.94543271A>G" "" "{PMID:Ramkumar 2017:28005406}" "" "" "" "Germline" "" "" "0" "" "" "g.94077715A>G" "" "likely pathogenic" ""
"0000736805" "1" "90" "1" "94487212" "94487212" "del" "0" "00000" "ABCA4_001497" "g.94487212del" "" "{PMID:Roberts 2016:27898983}" "" "4832delC" "" "Germline" "" "" "0" "" "" "g.94021656del" "" "pathogenic (recessive)" ""
"0000736808" "2" "70" "1" "94546090" "94546090" "subst" "0" "00000" "ABCA4_001511" "g.94546090A>C" "" "{PMID:Roberts 2016:27898983}" "" "" "" "Germline" "" "" "0" "" "" "g.94080534A>C" "" "likely pathogenic (recessive)" ""
"0000736815" "1" "70" "1" "94502318" "94502323" "del" "0" "00000" "ABCA4_000591" "g.94502318_94502323del" "2/486 individuals" "{PMID:Sergouniotis 2016:27628848}" "" "" "no genotypes reported" "Germline" "" "rs62642572" "0" "" "" "g.94036762_94036767del" "" "likely pathogenic" ""
"0000759658" "1" "90" "1" "94467517" "94467517" "subst" "0" "00000" "ABCA4_000786" "g.94467517A>C" "" "{PMID:Zhang 2016:27596865}" "" "c.T6179G" "" "Germline" "" "" "0" "" "" "g.94001961A>C" "" "pathogenic (recessive)" "ACMG"
"0000759674" "2" "90" "1" "94471055" "94471055" "subst" "0.00035346" "00000" "ABCA4_000029" "g.94471055C>T" "" "{PMID:Zhang 2016:27596865}" "" "c.G6089A" "" "Germline" "" "" "0" "" "" "g.94005499C>T" "" "pathogenic (recessive)" "ACMG"
"0000759898" "3" "90" "1" "94543338" "94543338" "subst" "0" "00006" "ABCA4_000109" "g.94543338C>A" "" "{PMID:Sundaramurthy 2016:27383656}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000759903" "21" "50" "1" "94528142" "94528142" "subst" "0.00153303" "00006" "ABCA4_000125" "g.94528142A>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" ""
"0000759910" "1" "90" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Tiwari 2016:27353947}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000759911" "3" "90" "1" "94486941" "94486941" "subst" "0" "00000" "ABCA4_001420" "g.94486941G>A" "" "{PMID:Tiwari 2016:27353947}" "" "" "" "Germline" "" "" "0" "" "" "g.94021385G>A" "" "pathogenic" ""
"0000759912" "1" "90" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Tiwari 2016:27353947}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000759913" "1" "90" "1" "94526265" "94526265" "subst" "0" "00000" "ABCA4_000143" "g.94526265C>T" "" "{PMID:Tiwari 2016:27353947}" "" "" "" "Germline" "" "" "0" "" "" "g.94060709C>T" "" "pathogenic (recessive)" ""
"0000759914" "1" "90" "1" "94480178" "94480178" "subst" "2.43692E-5" "00000" "ABCA4_000005" "g.94480178G>T" "" "{PMID:Tiwari 2016:27353947}" "" "" "" "Germline" "" "" "0" "" "" "g.94014622G>T" "" "pathogenic (recessive)" ""
"0000759915" "1" "90" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Tiwari 2016:27353947}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000759916" "1" "90" "1" "94471022" "94471022" "subst" "0" "00000" "ABCA4_000790" "g.94471022C>T" "" "{PMID:Tiwari 2016:27353947}" "" "" "" "Germline" "" "" "0" "" "" "g.94005466C>T" "" "pathogenic (recessive)" ""
"0000759947" "2" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "00000" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Tiwari 2016:27353947}" "" "" "" "Germline" "" "" "0" "" "" "g.94062710G>A" "" "pathogenic (recessive)" ""
"0000759948" "2" "90" "1" "94476951" "94476951" "subst" "0.000236097" "00000" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Tiwari 2016:27353947}" "" "" "" "Germline" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000759949" "2" "90" "1" "94526092" "94526092" "subst" "0" "00000" "ABCA4_000749" "g.94526092C>A" "" "{PMID:Tiwari 2016:27353947}" "" "" "" "Germline" "" "" "0" "" "" "g.94060536C>A" "" "pathogenic (recessive)" ""
"0000759950" "2" "90" "1" "94520853" "94520853" "subst" "8.14783E-6" "00000" "ABCA4_000729" "g.94520853C>T" "" "{PMID:Tiwari 2016:27353947}" "" "" "" "Germline" "" "" "0" "" "" "g.94055297C>T" "" "pathogenic (recessive)" ""
"0000759951" "2" "90" "1" "94526212" "94526212" "subst" "1.22012E-5" "00000" "ABCA4_000075" "g.94526212G>A" "" "{PMID:Tiwari 2016:27353947}" "" "" "" "Germline" "" "" "0" "" "" "g.94060656G>A" "" "pathogenic (recessive)" ""
"0000759952" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Tiwari 2016:27353947}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000760008" "0" "50" "1" "94508969" "94508969" "subst" "0.00168642" "00000" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Tiwari 2016:27353947}" "" "" "" "Germline" "" "" "0" "" "" "g.94043413G>A" "" "VUS" ""
"0000760032" "0" "50" "1" "94544200" "94544200" "del" "4.06072E-6" "00000" "ABCA4_000319" "g.94544200del" "" "{PMID:Tiwari 2016:27353947}" "" "" "" "Germline" "" "" "0" "" "" "g.94078644del" "" "VUS" ""
"0000760035" "0" "50" "1" "94564430" "94564430" "subst" "0" "00000" "ABCA4_000376" "g.94564430A>T" "" "{PMID:Tiwari 2016:27353947}" "" "" "" "Germline" "" "" "0" "" "" "g.94098874A>T" "" "VUS" ""
"0000760083" "0" "50" "1" "94568675" "94568675" "subst" "0.00146249" "00000" "ABCA4_000210" "g.94568675T>C" "" "{PMID:Tiwari 2016:27353947}" "" "" "" "Germline" "" "" "0" "" "" "g.94103119T>C" "" "VUS" ""
"0000760101" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Tiwari 2016:27353947}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000760140" "0" "70" "1" "94473287" "94473287" "subst" "0.00293818" "00000" "ABCA4_000395" "g.94473287G>A" "" "{PMID:Ellingford 2016:27208204}" "" "" "" "Germline" "" "" "0" "" "" "g.94007731G>A" "" "likely pathogenic" ""
"0000760164" "3" "70" "1" "94485164" "94485164" "subst" "0" "00000" "ABCA4_001515" "g.94485164A>G" "" "{PMID:Ellingford 2016:27208204}" "" "" "" "Germline" "" "" "0" "" "" "g.94019608A>G" "" "likely pathogenic" ""
"0000760166" "0" "70" "1" "94466422" "94466422" "subst" "2.43651E-5" "00000" "ABCA4_000817" "g.94466422C>T" "" "{PMID:Ellingford 2016:27208204}" "" "" "" "Germline" "" "" "0" "" "" "g.94000866C>T" "" "likely pathogenic" ""
"0000760168" "0" "50" "1" "94508986" "94508986" "del" "0" "00000" "ABCA4_001428" "g.94508986del" "" "{PMID:Ellingford 2016:27208204}" "" "3098delA" "" "Germline" "" "" "0" "" "" "g.94043430del" "" "VUS" ""
"0000760169" "0" "70" "1" "94473278" "94473278" "del" "3.25908E-5" "00000" "ABCA4_000392" "g.94473278del" "" "{PMID:Ellingford 2016:27208204}" "" "5917delG" "" "Germline" "" "" "0" "" "" "g.94007722del" "" "likely pathogenic" ""
"0000760273" "0" "70" "1" "94528164" "94528164" "subst" "2.03336E-5" "00000" "ABCA4_000267" "g.94528164G>A" "" "{PMID:Ellingford 2016:27208204}" "" "" "" "Germline" "" "" "0" "" "" "g.94062608G>A" "" "likely pathogenic" ""
"0000760274" "3" "70" "1" "94506945" "94506945" "del" "0" "00000" "ABCA4_001516" "g.94506945del" "" "{PMID:Ellingford 2016:27208204}" "" "3342delC" "" "Germline" "" "" "0" "" "" "g.94041389del" "" "likely pathogenic" ""
"0000760327" "3" "70" "1" "94463488" "94463488" "subst" "5.2803E-5" "00000" "ABCA4_000802" "g.94463488G>A" "" "{PMID:Ellingford 2016:27208204}" "" "" "" "Germline" "" "" "0" "" "" "g.93997932G>A" "" "likely pathogenic" ""
"0000760351" "0" "70" "1" "94514477" "94514477" "subst" "0.00118992" "00000" "ABCA4_000700" "g.94514477G>A" "" "{PMID:Ellingford 2016:27208204}" "" "" "" "Germline" "" "" "0" "" "" "g.94048921G>A" "" "likely pathogenic" ""
"0000760354" "0" "70" "1" "94528164" "94528164" "subst" "2.03336E-5" "00000" "ABCA4_000267" "g.94528164G>A" "" "{PMID:Ellingford 2016:27208204}" "" "" "" "Germline" "" "" "0" "" "" "g.94062608G>A" "" "likely pathogenic" ""
"0000760355" "0" "70" "1" "94496010" "94496010" "subst" "1.62434E-5" "00000" "ABCA4_000549" "g.94496010G>T" "" "{PMID:Ellingford 2016:27208204}" "" "" "" "Germline" "" "" "0" "" "" "g.94030454G>T" "" "likely pathogenic" ""
"0000760358" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Ellingford 2016:27208204}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000760361" "3" "70" "1" "94508386" "94508386" "subst" "1.62443E-5" "00000" "ABCA4_000642" "g.94508386C>T" "" "{PMID:Ellingford 2016:27208204}" "" "" "" "Germline" "" "" "0" "" "" "g.94042830C>T" "" "likely pathogenic" ""
"0000760362" "0" "70" "1" "94490567" "94490567" "subst" "5.68528E-5" "00000" "ABCA4_000026" "g.94490567G>A" "" "{PMID:Ellingford 2016:27208204}" "" "" "" "Germline" "" "" "0" "" "" "g.94025011G>A" "" "likely pathogenic" ""
"0000760363" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Ellingford 2016:27208204}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000760365" "0" "50" "1" "94471037" "94471037" "subst" "0" "00000" "ABCA4_001062" "g.94471037T>C" "" "{PMID:Ellingford 2016:27208204}" "" "" "" "Germline" "" "" "0" "" "" "g.94005481T>C" "" "VUS" ""
"0000760369" "3" "70" "1" "94528819" "94528819" "subst" "2.03128E-5" "00000" "ABCA4_000078" "g.94528819G>A" "" "{PMID:Ellingford 2016:27208204}" "" "" "" "Germline" "" "" "0" "" "" "g.94063263G>A" "" "likely pathogenic" ""
"0000760371" "0" "70" "1" "94508969" "94508969" "subst" "0.00168642" "00000" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Ellingford 2016:27208204}" "" "" "" "Germline" "" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic" ""
"0000760372" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Ellingford 2016:27208204}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000760397" "0" "70" "1" "94480243" "94480243" "subst" "4.06124E-6" "00000" "ABCA4_000448" "g.94480243C>T" "" "{PMID:Ellingford 2016:27208204}" "" "" "" "Germline" "" "" "0" "" "" "g.94014687C>T" "" "likely pathogenic" ""
"0000760418" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "00000" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Ellingford 2016:27208204}" "" "" "" "Germline" "" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic" ""
"0000760426" "0" "70" "1" "94568687" "94568687" "subst" "1.62641E-5" "00000" "ABCA4_000024" "g.94568687G>A" "" "{PMID:Ellingford 2016:27208204}" "" "" "" "Germline" "" "" "0" "" "" "g.94103131G>A" "" "likely pathogenic" ""
"0000760428" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "00000" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Ellingford 2016:27208204}" "" "" "" "Germline" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic" ""
"0000760429" "0" "70" "1" "94463488" "94463488" "subst" "5.2803E-5" "00000" "ABCA4_000802" "g.94463488G>A" "" "{PMID:Ellingford 2016:27208204}" "" "" "" "Germline" "" "" "0" "" "" "g.93997932G>A" "" "likely pathogenic" ""
"0000760480" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "00000" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Ellingford 2016:27208204}" "" "" "" "Germline" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic" ""
"0000760502" "0" "70" "1" "94544977" "94544977" "subst" "0.000544432" "00000" "ABCA4_000332" "g.94544977A>T" "" "{PMID:Ellingford 2016:27208204}" "" "" "" "Germline" "" "" "0" "" "" "g.94079421A>T" "" "likely pathogenic" ""
"0000760504" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "00000" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Ellingford 2016:27208204}" "" "" "" "Germline" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic" ""
"0000760505" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "00000" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Ellingford 2016:27208204}" "" "" "" "Germline" "" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic" ""
"0000760506" "0" "50" "1" "94528197" "94528197" "subst" "0" "00000" "ABCA4_001473" "g.94528197G>A" "" "{PMID:Ellingford 2016:27208204}" "" "" "" "Germline" "" "" "0" "" "" "g.94062641G>A" "" "VUS" ""
"0000760507" "0" "70" "1" "94486794" "94486794" "subst" "0" "00000" "ABCA4_000478" "g.94486794A>G" "" "{PMID:Ellingford 2016:27208204}" "" "" "" "Germline" "" "" "0" "" "" "g.94021238A>G" "" "likely pathogenic" ""
"0000760508" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "00000" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Ellingford 2016:27208204}" "" "" "" "Germline" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic" ""
"0000760509" "0" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "00000" "ABCA4_000997" "g.94495071C>T" "" "{PMID:Ellingford 2016:27208204}" "" "" "" "Germline" "" "" "0" "" "" "g.94029515C>T" "" "likely pathogenic" ""
"0000760511" "0" "70" "1" "94577135" "94577135" "subst" "2.43718E-5" "00000" "ABCA4_000240" "g.94577135C>T" "" "{PMID:Ellingford 2016:27208204}" "" "" "" "Germline" "" "" "0" "" "" "g.94111579C>T" "" "likely pathogenic" ""
"0000760512" "0" "50" "1" "94520688" "94520688" "subst" "0" "00000" "ABCA4_001517" "g.94520688A>T" "" "{PMID:Ellingford 2016:27208204}" "" "" "" "Germline" "" "" "0" "" "" "g.94055132A>T" "" "VUS" ""
"0000760528" "0" "70" "1" "94471055" "94471055" "subst" "0.00035346" "00000" "ABCA4_000029" "g.94471055C>T" "" "{PMID:Ellingford 2016:27208204}" "" "" "" "Germline" "" "" "0" "" "" "g.94005499C>T" "" "likely pathogenic" ""
"0000760649" "1" "90" "1" "94506901" "94506901" "subst" "0.000308665" "00000" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Bravo-Gil 2016:27032803}" "" "" "" "Germline" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic" ""
"0000760671" "2" "90" "1" "94528251" "94528251" "subst" "0" "00000" "ABCA4_000077" "g.94528251C>G" "" "{PMID:Bravo-Gil 2016:27032803}" "" "" "" "Germline" "" "" "0" "" "" "g.94062695C>G" "" "pathogenic" ""
"0000760764" "0" "90" "1" "94543359" "94543359" "del" "0" "01807" "ABCA4_001518" "g.94543359del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.94077803del" "" "pathogenic" ""
"0000760821" "0" "50" "1" "94586550" "94586550" "subst" "1.21864E-5" "00000" "ABCA4_000037" "g.94586550G>A" "" "{PMID:Tsipi 2016:27014590}" "" "" "" "Germline" "" "" "0" "" "" "g.94120994G>A" "" "VUS" ""
"0000760822" "0" "50" "1" "94544234" "94544234" "subst" "0.255245" "00000" "ABCA4_000322" "g.94544234T>C" "" "{PMID:Tsipi 2016:27014590}" "" "" "" "Germline" "" "" "0" "" "" "g.94078678T>C" "" "VUS" ""
"0000760823" "0" "50" "1" "94544234" "94544234" "subst" "0.255245" "00000" "ABCA4_000322" "g.94544234T>C" "" "{PMID:Tsipi 2016:27014590}" "" "" "" "Germline" "" "" "0" "" "" "g.94078678T>C" "" "VUS" ""
"0000760824" "0" "50" "1" "94544234" "94544234" "subst" "0.255245" "00000" "ABCA4_000322" "g.94544234T>C" "" "{PMID:Tsipi 2016:27014590}" "" "" "" "Germline" "" "" "0" "" "" "g.94078678T>C" "" "VUS" ""
"0000760825" "0" "50" "1" "94514477" "94514477" "subst" "0.00118992" "00000" "ABCA4_000700" "g.94514477G>A" "" "{PMID:Tsipi 2016:27014590}" "" "" "" "Germline" "" "" "0" "" "" "g.94048921G>A" "" "VUS" ""
"0000760826" "0" "50" "1" "94512565" "94512565" "subst" "0.030364" "00000" "ABCA4_000002" "g.94512565C>T" "" "{PMID:Tsipi 2016:27014590}" "" "" "" "Germline" "" "" "0" "" "" "g.94047009C>T" "" "VUS" ""
"0000760827" "0" "50" "1" "94473278" "94473278" "del" "3.25908E-5" "00000" "ABCA4_000392" "g.94473278del" "" "{PMID:Tsipi 2016:27014590}" "" "5917delG" "" "Germline" "" "" "0" "" "" "g.94007722del" "" "VUS" ""
"0000760828" "0" "50" "1" "94577140" "94577140" "subst" "0" "00000" "ABCA4_001520" "g.94577140A>G" "" "{PMID:Tsipi 2016:27014590}" "" "" "" "Germline" "" "" "0" "" "" "g.94111584A>G" "" "VUS" ""
"0000760829" "0" "50" "1" "94564484" "94564484" "subst" "0.000110199" "00000" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Tsipi 2016:27014590}" "" "" "" "Germline" "" "" "0" "" "" "g.94098928G>A" "" "VUS" ""
"0000760830" "0" "50" "1" "94544234" "94544234" "subst" "0.255245" "00000" "ABCA4_000322" "g.94544234T>C" "" "{PMID:Tsipi 2016:27014590}" "" "" "" "Germline" "" "" "0" "" "" "g.94078678T>C" "" "VUS" ""
"0000760831" "0" "50" "1" "94467407" "94467407" "subst" "0.0756573" "00000" "ABCA4_000846" "g.94467407C>T" "" "{PMID:Tsipi 2016:27014590}" "" "" "" "Germline" "" "" "0" "" "" "g.94001851C>T" "" "VUS" ""
"0000760832" "0" "50" "1" "94544234" "94544234" "subst" "0.255245" "00000" "ABCA4_000322" "g.94544234T>C" "" "{PMID:Tsipi 2016:27014590}" "" "" "" "Germline" "" "" "0" "" "" "g.94078678T>C" "" "VUS" ""
"0000760833" "0" "50" "1" "94467407" "94467407" "subst" "0.0756573" "00000" "ABCA4_000846" "g.94467407C>T" "" "{PMID:Tsipi 2016:27014590}" "" "" "" "Germline" "" "" "0" "" "" "g.94001851C>T" "" "VUS" ""
"0000760834" "0" "50" "1" "94467407" "94467407" "subst" "0.0756573" "00000" "ABCA4_000846" "g.94467407C>T" "" "{PMID:Tsipi 2016:27014590}" "" "" "" "Germline" "" "" "0" "" "" "g.94001851C>T" "" "VUS" ""
"0000760835" "0" "50" "1" "94487251" "94487251" "subst" "2.85679E-5" "00000" "ABCA4_000490" "g.94487251G>T" "" "{PMID:Tsipi 2016:27014590}" "" "" "" "Germline" "" "" "0" "" "" "g.94021695G>T" "" "VUS" ""
"0000760836" "0" "50" "1" "94528806" "94528806" "subst" "0.000150298" "00000" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Tsipi 2016:27014590}" "" "" "" "Germline" "" "" "0" "" "" "g.94063250A>G" "" "VUS" ""
"0000760837" "0" "50" "1" "94476351" "94476351" "subst" "0.000296608" "00000" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Tsipi 2016:27014590}" "" "" "" "Germline" "" "" "0" "" "" "g.94010795C>T" "" "VUS" ""
"0000760838" "0" "50" "1" "94490571" "94490571" "subst" "0" "00000" "ABCA4_001519" "g.94490571G>C" "" "{PMID:Tsipi 2016:27014590}" "" "" "" "Germline" "" "" "0" "" "" "g.94025015G>C" "" "VUS" ""
"0000760839" "0" "50" "1" "94528806" "94528806" "subst" "0.000150298" "00000" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Tsipi 2016:27014590}" "" "" "" "Germline" "" "" "0" "" "" "g.94063250A>G" "" "VUS" ""
"0000760840" "0" "50" "1" "94528806" "94528806" "subst" "0.000150298" "00000" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Tsipi 2016:27014590}" "" "" "" "Germline" "" "" "0" "" "" "g.94063250A>G" "" "VUS" ""
"0000760841" "0" "50" "1" "94528806" "94528806" "subst" "0.000150298" "00000" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Tsipi 2016:27014590}" "" "" "" "Germline" "" "" "0" "" "" "g.94063250A>G" "" "VUS" ""
"0000760842" "0" "50" "1" "94508322" "94508322" "subst" "1.62513E-5" "00000" "ABCA4_000128" "g.94508322C>T" "" "{PMID:Tsipi 2016:27014590}" "" "" "" "Germline" "" "" "0" "" "" "g.94042766C>T" "" "VUS" ""
"0000760843" "0" "50" "1" "94467407" "94467407" "subst" "0.0756573" "00000" "ABCA4_000846" "g.94467407C>T" "" "{PMID:Tsipi 2016:27014590}" "" "" "" "Germline" "" "" "0" "" "" "g.94001851C>T" "" "VUS" ""
"0000760844" "0" "50" "1" "94495983" "94495983" "subst" "8.12348E-6" "00000" "ABCA4_000547" "g.94495983C>T" "" "{PMID:Tsipi 2016:27014590}" "" "" "" "Germline" "" "" "0" "" "" "g.94030427C>T" "" "VUS" ""
"0000760845" "0" "50" "1" "94495983" "94495983" "subst" "8.12348E-6" "00000" "ABCA4_000547" "g.94495983C>T" "" "{PMID:Tsipi 2016:27014590}" "" "" "" "Germline" "" "" "0" "" "" "g.94030427C>T" "" "VUS" ""
"0000760846" "0" "50" "1" "94495983" "94495983" "subst" "8.12348E-6" "00000" "ABCA4_000547" "g.94495983C>T" "" "{PMID:Tsipi 2016:27014590}" "" "" "" "Germline" "" "" "0" "" "" "g.94030427C>T" "" "VUS" ""
"0000760847" "0" "50" "1" "94461717" "94461717" "subst" "0.0703199" "00000" "ABCA4_000003" "g.94461717C>A" "" "{PMID:Tsipi 2016:27014590}" "" "" "" "Germline" "" "" "0" "" "" "g.93996161C>A" "" "VUS" ""
"0000760848" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Tsipi 2016:27014590}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000760849" "0" "50" "1" "94508969" "94508969" "subst" "0.00168642" "00000" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Tsipi 2016:27014590}" "" "" "" "Germline" "" "" "0" "" "" "g.94043413G>A" "" "VUS" ""
"0000760850" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Tsipi 2016:27014590}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000760851" "0" "50" "1" "94473278" "94473278" "del" "3.25908E-5" "00000" "ABCA4_000392" "g.94473278del" "" "{PMID:Tsipi 2016:27014590}" "" "5917delT" "" "Germline" "" "" "0" "" "" "g.94007722del" "" "VUS" ""
"0000760852" "0" "50" "1" "94508969" "94508969" "subst" "0.00168642" "00000" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Tsipi 2016:27014590}" "" "" "" "Germline" "" "" "0" "" "" "g.94043413G>A" "" "VUS" ""
"0000760853" "0" "50" "1" "94508969" "94508969" "subst" "0.00168642" "00000" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Tsipi 2016:27014590}" "" "" "" "Germline" "" "" "0" "" "" "g.94043413G>A" "" "VUS" ""
"0000760854" "0" "50" "1" "94508969" "94508969" "subst" "0.00168642" "00000" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Tsipi 2016:27014590}" "" "" "" "Germline" "" "" "0" "" "" "g.94043413G>A" "" "VUS" ""
"0000760855" "0" "50" "1" "94544234" "94544234" "subst" "0.255245" "00000" "ABCA4_000322" "g.94544234T>C" "" "{PMID:Tsipi 2016:27014590}" "" "" "" "Germline" "" "" "0" "" "" "g.94078678T>C" "" "VUS" ""
"0000760856" "0" "50" "1" "94520694" "94520694" "subst" "8.12414E-6" "00000" "ABCA4_000712" "g.94520694C>T" "" "{PMID:Tsipi 2016:27014590}" "" "" "" "Germline" "" "" "0" "" "" "g.94055138C>T" "" "VUS" ""
"0000760857" "0" "50" "1" "94476351" "94476351" "subst" "0.000296608" "00000" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Tsipi 2016:27014590}" "" "" "" "Germline" "" "" "0" "" "" "g.94010795C>T" "" "VUS" ""
"0000763473" "3" "90" "1" "94486895" "94486895" "subst" "3.24923E-5" "02404" "ABCA4_000484" "g.94486895C>T" "" "{PMID:Bahena 2021:34148116}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG"
"0000763881" "1" "70" "1" "94528266" "94528266" "subst" "4.477E-5" "00006" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Huang 2016:26992781}" "" "" "" "Germline" "" "" "0" "" "" "g.94062710G>A" "" "likely pathogenic (recessive)" ""
"0000763882" "1" "70" "1" "94528266" "94528266" "subst" "4.477E-5" "00006" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Huang 2016:26992781}" "" "" "" "Germline" "" "" "0" "" "" "g.94062710G>A" "" "likely pathogenic (recessive)" ""
"0000763883" "3" "70" "1" "94526199" "94526199" "del" "0" "00006" "ABCA4_001526" "g.94526199del" "" "{PMID:Huang 2016:26992781}" "" "" "" "Germline" "" "" "0" "" "" "g.94060643del" "" "likely pathogenic (recessive)" ""
"0000763884" "1" "70" "1" "94526296" "94526296" "subst" "1.64555E-5" "00006" "ABCA4_000768" "g.94526296G>A" "" "{PMID:Huang 2013:23776498}, {PMID:Huang 2016:26992781}" "" "" "" "Germline" "" "" "0" "" "" "g.94060740G>A" "" "likely pathogenic (recessive)" ""
"0000763885" "1" "70" "1" "94528782" "94528782" "subst" "0" "00006" "ABCA4_001528" "g.94528782G>T" "" "{PMID:Huang 2016:26992781}" "" "" "" "Germline" "" "" "0" "" "" "g.94063226G>T" "" "likely pathogenic (recessive)" ""
"0000763886" "1" "70" "1" "94509027" "94509027" "subst" "4.06478E-6" "00006" "ABCA4_000661" "g.94509027T>C" "" "{PMID:Huang 2016:26992781}" "" "" "" "Germline" "" "" "0" "" "" "g.94043471T>C" "" "likely pathogenic (recessive)" ""
"0000763964" "2" "70" "1" "94463554" "94463554" "subst" "0" "00006" "ABCA4_001485" "g.94463554G>A" "" "{PMID:Huang 2016:26992781}" "" "" "" "Germline" "" "" "0" "" "" "g.93997998G>A" "" "likely pathogenic (recessive)" ""
"0000763965" "2" "70" "1" "94528276" "94528276" "del" "0" "00006" "ABCA4_001527" "g.94528276del" "" "{PMID:Huang 2016:26992781}" "" "" "" "Germline" "" "" "0" "" "" "g.94062720del" "" "likely pathogenic (recessive)" ""
"0000763966" "2" "70" "1" "94490540" "94490540" "dup" "0" "00006" "ABCA4_000522" "g.94490540dup" "" "{PMID:Huang 2013:23776498}, {PMID:Huang 2016:26992781}" "" "4605insT" "" "Germline" "" "" "0" "" "" "g.94024984dup" "" "likely pathogenic (recessive)" ""
"0000763967" "2" "70" "1" "94486966" "94486966" "" "0" "00006" "ABCA4_001521" "g.94486966C=" "" "{PMID:Huang 2016:26992781}" "" "" "" "Germline" "" "" "0" "" "" "g.94021410C=" "" "likely pathogenic (recessive)" ""
"0000763968" "2" "70" "1" "94487401" "94487401" "subst" "4.06085E-6" "00006" "ABCA4_000995" "g.94487401C>T" "" "{PMID:Huang 2016:26992781}" "" "" "" "Germline" "" "" "0" "" "" "g.94021845C>T" "" "likely pathogenic (recessive)" ""
"0000764024" "3" "70" "1" "94466426" "94466426" "subst" "1.62433E-5" "00000" "ABCA4_000124" "g.94466426G>A" "" "{PMID:Oishi 2016:26957898}" "" "" "" "Germline" "" "rs61750654" "0" "" "" "g.94000870G>A" "" "likely pathogenic" ""
"0000764025" "3" "70" "1" "94528666" "94528666" "subst" "0" "00000" "ABCA4_000289" "g.94528666A>C" "" "{PMID:Oishi 2016:26957898}" "" "" "" "Germline" "" "rs61751385" "0" "" "" "g.94063110A>C" "" "likely pathogenic" ""
"0000764028" "3" "70" "1" "94526296" "94526296" "subst" "1.64555E-5" "00000" "ABCA4_000768" "g.94526296G>A" "" "{PMID:Oishi 2016:26957898}" "" "" "" "Germline" "" "rs61749420" "0" "" "" "g.94060740G>A" "" "likely pathogenic" ""
"0000764030" "3" "70" "1" "94510168" "94510168" "subst" "0" "00000" "ABCA4_001525" "g.94510168C>T" "" "{PMID:Oishi 2016:26957898}" "" "" "" "Germline" "" "" "0" "" "" "g.94044612C>T" "" "likely pathogenic" ""
"0000764051" "1" "70" "1" "94496571" "94496571" "subst" "4.06174E-6" "00000" "ABCA4_000111" "g.94496571G>A" "" "{PMID:Perez-Carro 2016:26806561}" "" "" "" "Germline" "" "" "0" "" "" "g.94031015G>A" "" "likely pathogenic" ""
"0000764077" "2" "70" "1" "94473278" "94473278" "del" "3.25908E-5" "00000" "ABCA4_000392" "g.94473278del" "" "{PMID:Perez-Carro 2016:26806561}" "" "5917delG" "" "Germline" "" "" "0" "" "" "g.94007722del" "" "likely pathogenic" ""
"0000764089" "1" "90" "1" "94471065" "94471065" "subst" "0.000194997" "04043" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Fadaie 2021:34795310}" "" "" "" "Germline" "no" "" "0" "" "" "g.94005509G>A" "" "pathogenic (recessive)" ""
"0000764090" "1" "90" "1" "94461738" "94461738" "subst" "0" "04043" "ABCA4_001522" "g.94461738A>G" "" "{PMID:Fadaie 2021:34795310}" "" "" "" "Germline" "no" "" "0" "" "" "g.93996182A>G" "" "pathogenic (recessive)" ""
"0000764091" "1" "90" "1" "94476467" "94476467" "subst" "0.0424562" "04043" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Fadaie 2021:34795310}" "" "" "" "Germline" "no" "" "0" "" "" "g.94010911T>A" "" "pathogenic (recessive)" ""
"0000764092" "1" "90" "1" "94577135" "94577135" "subst" "2.43718E-5" "04043" "ABCA4_000240" "g.94577135C>T" "" "{PMID:Fadaie 2021:34795310}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000764126" "3" "30" "1" "94478782" "94478784" "delins" "0" "04043" "ABCA4_001524" "g.94478782_94478784delinsTA" "" "{PMID:Fadaie 2021:34795310}" "" "" "" "Germline" "" "" "0" "" "" "g.94013226_94013228delinsTA" "" "likely benign" ""
"0000764135" "2" "90" "1" "94484001" "94484001" "subst" "0" "04043" "ABCA4_000016" "g.94484001C>T" "" "{PMID:Fadaie 2021:34795310}" "" "" "" "Germline" "no" "" "0" "" "" "g.94018445C>T" "" "pathogenic (recessive)" ""
"0000764136" "2" "90" "1" "94492973" "94492973" "subst" "0" "04043" "ABCA4_000030" "g.94492973G>A" "" "{PMID:Fadaie 2021:34795310}" "" "" "" "Germline" "no" "" "0" "" "" "g.94027417G>A" "" "pathogenic (recessive)" ""
"0000764137" "2" "90" "1" "94577010" "94577010" "subst" "4.06679E-6" "04043" "ABCA4_000225" "g.94577010T>G" "" "{PMID:Fadaie 2021:34795310}" "" "" "" "Germline" "no" "" "0" "" "" "g.94111454T>G" "" "pathogenic (recessive)" ""
"0000764138" "2" "10" "1" "94467637" "94467637" "subst" "0" "04043" "ABCA4_001523" "g.94467637C>T" "" "{PMID:Fadaie 2021:34795310}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94002081C>T" "" "VUS" ""
"0000764586" "1" "70" "1" "94577132" "94577132" "subst" "0" "00008" "ABCA4_001545" "g.94577132T>G" "" "{PMID:Downs 2007:17296903}" "" "164A>C (H55P)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000764587" "1" "70" "1" "94564508" "94564508" "subst" "2.46494E-5" "00008" "ABCA4_000355" "g.94564508C>T" "" "{PMID:Downs 2007:17296903}" "" "611G>A (A204T)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000764588" "1" "70" "1" "94546265" "94546265" "subst" "2.04063E-5" "00008" "ABCA4_000355" "g.94546265G>A" "" "{PMID:Downs 2007:17296903}" "" "868C>T (R290W)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000764589" "1" "70" "1" "94528729" "94528729" "subst" "0.000255885" "00008" "ABCA4_000297" "g.94528729C>T" "" "{PMID:Downs 2007:17296903}" "" "1699G>A (V567M)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000764590" "1" "70" "1" "94528702" "94528702" "subst" "1.62468E-5" "00008" "ABCA4_000293" "g.94528702C>G" "" "{PMID:Downs 2007:17296903}" "" "1726G>C (D576H)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000764591" "1" "70" "1" "94528253" "94528253" "subst" "8.13729E-6" "00008" "ABCA4_000767" "g.94528253C>T" "" "{PMID:Downs 2007:17296903}" "" "1817G>A (G606A)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000764592" "1" "70" "1" "94526289" "94526289" "subst" "0.000417202" "00008" "ABCA4_000767" "g.94526289A>C" "" "{PMID:Downs 2007:17296903}" "" "1964T>G (L725I)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000764593" "1" "70" "1" "94522366" "94522366" "subst" "0" "00008" "ABCA4_001542" "g.94522366G>T" "" "{PMID:Downs 2007:17296903}" "" "2173C>A (F655C)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000764594" "1" "70" "1" "94522242" "94522242" "subst" "0" "00008" "ABCA4_001541" "g.94522242C>T" "" "{PMID:Downs 2007:17296903}" "" "2297G>A (G766D)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000764595" "1" "70" "1" "94520869" "94520869" "subst" "0" "00008" "ABCA4_000729" "g.94520869G>C" "" "{PMID:Downs 2007:17296903}" "" "2385C>G (S795R)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000764596" "1" "70" "1" "94520853" "94520853" "subst" "8.14783E-6" "00008" "ABCA4_000729" "g.94520853C>T" "" "{PMID:Downs 2007:17296903}" "" "2401G>A (A801T)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000764597" "1" "70" "1" "94509006" "94509006" "subst" "3.65717E-5" "00008" "ABCA4_001538" "g.94509006A>G" "" "{PMID:Downs 2007:17296903}" "" "3076T>C (F1026L)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000764598" "1" "70" "1" "94508945" "94508945" "subst" "0" "00008" "ABCA4_000104" "g.94508945A>C" "" "{PMID:Downs 2007:17296903}" "" "3138T>G (L1046W)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000764599" "1" "70" "1" "94506874" "94506874" "subst" "0" "00008" "ABCA4_000104" "g.94506874A>G" "" "{PMID:Downs 2007:17296903}" "" "3414T>C (L1138P)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000764600" "1" "70" "1" "94496080" "94496080" "subst" "0.000982813" "00008" "ABCA4_000558" "g.94496080A>G" "" "{PMID:Downs 2007:17296903}" "" "4256T>C (M1419T)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000764601" "1" "70" "1" "94495005" "94495005" "subst" "3.95137E-5" "00008" "ABCA4_000907" "g.94495005G>T" "" "{PMID:Downs 2007:17296903}" "" "4535C>A (P1512H)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000764602" "1" "70" "1" "94486965" "94486965" "subst" "0" "00008" "ABCA4_001063" "g.94486965C>T" "" "{PMID:Downs 2007:17296903}" "" "4849G>A (V1617M)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000764603" "1" "70" "1" "94486944" "94486944" "subst" "0" "00008" "ABCA4_000039" "g.94486944A>C" "" "{PMID:Downs 2007:17296903}" "" "4870T>G (W1624G)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000764604" "1" "70" "1" "94485308" "94485308" "subst" "0" "00008" "ABCA4_001534" "g.94485308T>G" "" "{PMID:Downs 2007:17296903}" "" "5026A>C (T1676P)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000764605" "1" "70" "1" "94481413" "94481413" "subst" "0" "00008" "ABCA4_001533" "g.94481413C>G" "" "{PMID:Downs 2007:17296903}" "" "IVS36-3G>C (Splice)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000764606" "1" "70" "1" "94476370" "94476370" "subst" "0" "00008" "ABCA4_001531" "g.94476370G>T" "" "{PMID:Downs 2007:17296903}" "" "5701C>A (F1900L)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000764607" "1" "70" "1" "94473804" "94473804" "subst" "0" "00008" "ABCA4_000854" "g.94473804A>T" "" "{PMID:Downs 2007:17296903}" "" "5885T>A (V1962D)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000764608" "1" "70" "1" "94463428" "94463428" "subst" "1.62621E-5" "00008" "ABCA4_000854" "g.94463428T>C" "" "{PMID:Downs 2007:17296903}" "" "6718A>G (T2240A)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000764609" "1" "70" "1" "94473297" "94473297" "subst" "0" "00008" "ABCA4_002392" "g.94473297C>T" "" "{PMID:Downs 2007:17296903}" "" "IVS42-1G>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000764615" "1" "30" "1" "94574256" "94574256" "subst" "0" "00008" "ABCA4_001544" "g.94574256G>T" "" "{PMID:Downs 2007:17296903}" "" "320C>A (R107R)" "" "Germline" "" "" "0" "" "" "" "" "likely benign" ""
"0000764616" "1" "30" "1" "94528736" "94528736" "subst" "0.000235562" "00008" "ABCA4_001237" "g.94528736T>C" "" "{PMID:Downs 2007:17296903}" "" "1692A>G (P562P)" "" "Germline" "" "" "0" "" "" "" "" "likely benign" ""
"0000764617" "1" "30" "1" "94512570" "94512570" "subst" "0" "00008" "ABCA4_001539" "g.94512570A>G" "" "{PMID:Downs 2007:17296903}" "" "2823T>C (C941C)" "" "Germline" "" "" "0" "" "" "" "" "likely benign" ""
"0000764618" "1" "30" "1" "94486945" "94486945" "subst" "0" "00008" "ABCA4_001536" "g.94486945G>C" "" "{PMID:Downs 2007:17296903}" "" "4869C>G (G1623G)" "" "Germline" "" "" "0" "" "" "" "" "likely benign" ""
"0000764619" "1" "30" "1" "94480241" "94480241" "subst" "7.71705E-5" "00008" "ABCA4_000446" "g.94480241G>A" "" "{PMID:Downs 2007:17296903}" "" "5318C>T (A1773V)" "" "Germline" "" "" "0" "" "" "" "" "likely benign" ""
"0000764620" "1" "30" "1" "94480168" "94480168" "subst" "9.7473E-5" "00008" "ABCA4_001495" "g.94480168A>G" "" "{PMID:Downs 2007:17296903}" "" "5390T>C (C1797C)" "" "Germline" "" "" "0" "" "" "" "" "likely benign" ""
"0000764621" "1" "30" "1" "94520884" "94520884" "subst" "0" "00008" "ABCA4_001540" "g.94520884A>G" "" "{PMID:Downs 2007:17296903}" "" "IVS15-13T>C" "" "Germline" "" "" "0" "" "" "" "" "likely benign" ""
"0000764622" "1" "30" "1" "94505553" "94505553" "subst" "0" "00008" "ABCA4_001537" "g.94505553T>A" "" "{PMID:Downs 2007:17296903}" "" "IVS24+46A>T" "" "Germline" "" "" "0" "" "" "" "" "likely benign" ""
"0000764623" "1" "30" "1" "94486788" "94486788" "subst" "0" "00008" "ABCA4_001535" "g.94486788C>T" "" "{PMID:Downs 2007:17296903}" "" "IVS35+8G>A" "" "Germline" "" "" "0" "" "" "" "" "likely benign" ""
"0000764624" "1" "30" "1" "94474462" "94474462" "subst" "0" "00008" "ABCA4_001530" "g.94474462T>G" "" "{PMID:Downs 2007:17296903}" "" "IVS40-35A>C" "" "Germline" "" "" "0" "" "" "" "" "likely benign" ""
"0000764625" "1" "30" "1" "94466363" "94466363" "subst" "8.52986E-5" "00008" "ABCA4_001529" "g.94466363A>G" "" "{PMID:Downs 2007:17296903}" "" "IVS47+29T>C" "" "Germline" "" "" "0" "" "" "" "" "likely benign" ""
"0000764626" "1" "30" "1" "0" "0" "subst" "0" "00008" "NPHS2_000000" "g.?" "" "{PMID:Downs 2007:17296903}" "" "IVS50-131ins/del" "" "Germline" "" "" "0" "" "" "" "" "likely benign" ""
"0000764909" "1" "70" "1" "94484001" "94484001" "subst" "0" "00000" "ABCA4_000016" "g.94484001C>T" "" "{PMID:Weisschuh 2016:26766544}" "" "" "" "Germline" "" "" "0" "" "" "g.94018445C>T" "" "likely pathogenic (recessive)" ""
"0000764917" "1" "70" "1" "94517254" "94517254" "subst" "0.00442654" "00000" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Weisschuh 2016:26766544}" "" "" "" "Germline" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000764925" "1" "70" "1" "94496666" "94496666" "subst" "0.000219568" "00000" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Weisschuh 2016:26766544}" "" "" "" "Germline" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000764926" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "00000" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Weisschuh 2016:26766544}" "" "1622A>G" "" "Germline" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000764935" "2" "70" "1" "94481296" "94481296" "subst" "4.07329E-6" "00000" "ABCA4_001532" "g.94481296C>T" "" "{PMID:Weisschuh 2016:26766544}" "" "" "" "Germline" "" "" "0" "" "" "g.94015740C>T" "" "likely pathogenic (recessive)" ""
"0000764938" "2" "70" "1" "94497564" "94497564" "subst" "1.64383E-5" "00000" "ABCA4_000091" "g.94497564G>A" "" "{PMID:Weisschuh 2016:26766544}" "" "" "" "Germline" "" "" "0" "" "" "g.94032008G>A" "" "likely pathogenic (recessive)" ""
"0000764945" "2" "70" "1" "94496548" "94496548" "subst" "2.43787E-5" "00000" "ABCA4_000088" "g.94496548G>A" "" "{PMID:Weisschuh 2016:26766544}" "" "" "" "Germline" "" "" "0" "" "" "g.94030992G>A" "" "likely pathogenic (recessive)" ""
"0000764946" "2" "70" "1" "94528785" "94528785" "subst" "0" "00000" "ABCA4_001543" "g.94528785C>T" "" "{PMID:Weisschuh 2016:26766544}" "" "1643C>T" "" "Germline" "" "" "0" "" "" "g.94063229C>T" "" "likely pathogenic (recessive)" ""
"0000765749" "3" "70" "1" "94480169" "94480170" "del" "0" "00000" "ABCA4_001266" "g.94480169_94480170del" "" "{PMID:Patel 2016:26355662}" "" "" "" "Germline" "" "" "0" "" "" "g.94014613_94014614del" "" "likely pathogenic" ""
"0000765750" "3" "70" "1" "94486947" "94486947" "subst" "0" "00000" "ABCA4_001547" "g.94486947C>G" "" "{PMID:Patel 2016:26355662}" "" "" "" "Germline" "" "" "0" "" "" "g.94021391C>G" "" "likely pathogenic" ""
"0000765752" "3" "70" "1" "94528795" "94528798" "dup" "0" "00000" "ABCA4_001550" "g.94528795_94528798dup" "" "{PMID:Patel 2016:26355662}" "" "" "" "Germline" "" "" "0" "" "" "g.94063239_94063242dup" "" "likely pathogenic" ""
"0000765758" "3" "70" "1" "94528795" "94528798" "dup" "0" "00000" "ABCA4_001550" "g.94528795_94528798dup" "" "{PMID:Patel 2016:26355662}" "" "" "" "Germline" "" "" "0" "" "" "g.94063239_94063242dup" "" "likely pathogenic" ""
"0000765796" "1" "70" "1" "94512578" "94512578" "subst" "0" "00000" "ABCA4_001549" "g.94512578C>A" "" "{PMID:Patel 2016:26355662}" "" "" "" "Germline" "" "" "0" "" "" "g.94047022C>A" "" "likely pathogenic" ""
"0000765816" "3" "70" "1" "94528795" "94528798" "dup" "0" "00000" "ABCA4_001550" "g.94528795_94528798dup" "" "{PMID:Patel 2016:26355662}" "" "" "" "Germline" "" "" "0" "" "" "g.94063239_94063242dup" "" "likely pathogenic" ""
"0000765826" "1" "70" "1" "94543268" "94543268" "subst" "0.000778106" "00000" "ABCA4_000306" "g.94543268C>T" "" "{PMID:Patel 2016:26355662}" "" "" "" "Germline" "" "" "0" "" "" "g.94077712C>T" "" "likely pathogenic" ""
"0000765838" "1" "70" "1" "94544977" "94544977" "subst" "0.000544432" "00000" "ABCA4_000332" "g.94544977A>T" "" "{PMID:Patel 2016:26355662}" "" "" "" "Germline" "" "" "0" "" "" "g.94079421A>T" "" "likely pathogenic" ""
"0000765877" "3" "70" "1" "94466658" "94466658" "subst" "8.14817E-6" "00000" "ABCA4_000132" "g.94466658C>T" "" "{PMID:Patel 2016:26355662}" "" "" "" "Germline" "" "" "0" "" "" "g.94001102C>T" "" "likely pathogenic" ""
"0000765895" "3" "70" "1" "94486962" "94486962" "subst" "0" "00000" "ABCA4_001548" "g.94486962A>T" "" "{PMID:Patel 2016:26355662}" "" "" "" "Germline" "" "" "0" "" "" "g.94021406A>T" "" "likely pathogenic" ""
"0000765897" "3" "70" "1" "94486947" "94486947" "subst" "0" "00000" "ABCA4_001547" "g.94486947C>G" "" "{PMID:Patel 2016:26355662}" "" "" "" "Germline" "" "" "0" "" "" "g.94021391C>G" "" "likely pathogenic" ""
"0000765912" "3" "70" "1" "94480169" "94480170" "del" "0" "00000" "ABCA4_001266" "g.94480169_94480170del" "" "{PMID:Patel 2016:26355662}" "" "" "" "Germline" "" "" "0" "" "" "g.94014613_94014614del" "" "likely pathogenic" ""
"0000765919" "3" "70" "1" "94522245" "94522245" "subst" "0" "00000" "ABCA4_000740" "g.94522245C>T" "" "{PMID:Patel 2016:26355662}" "" "" "" "Germline" "" "" "0" "" "" "g.94056689C>T" "" "likely pathogenic" ""
"0000765925" "2" "70" "1" "94476428" "94476428" "subst" "0" "00000" "ABCA4_001546" "g.94476428G>C" "" "{PMID:Patel 2016:26355662}" "" "" "" "Germline" "" "" "0" "" "" "g.94010872G>C" "" "likely pathogenic" ""
"0000765926" "2" "70" "1" "94514477" "94514477" "subst" "0.00118992" "00000" "ABCA4_000700" "g.94514477G>A" "" "{PMID:Patel 2016:26355662}" "" "" "" "Germline" "" "" "0" "" "" "g.94048921G>A" "" "likely pathogenic" ""
"0000765927" "2" "70" "1" "94528815" "94528815" "del" "0" "00000" "ABCA4_001551" "g.94528815del" "" "{PMID:Patel 2016:26355662}" "" "" "" "Germline" "" "" "0" "" "" "g.94063259del" "" "likely pathogenic" ""
"0000766083" "0" "70" "1" "94490567" "94490567" "subst" "5.68528E-5" "01695" "ABCA4_000026" "g.94490567G>A" "" "{PMID:Jiang 2016:26780318}" "" "p.T1526M" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94025011G>A" "" "likely pathogenic (recessive)" ""
"0000766084" "0" "90" "1" "94520830" "94520830" "subst" "0" "01695" "ABCA4_000727" "g.94520830G>C" "" "{PMID:Jiang 2016:26780318}" "" "p.Y808X" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94055274G>C" "" "pathogenic (recessive)" ""
"0000766085" "0" "90" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Jiang 2016:26780318}" "" "p.N965S" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94046943T>C" "" "pathogenic (recessive)" ""
"0000766086" "0" "70" "1" "94543269" "94543269" "subst" "0.000179087" "01695" "ABCA4_000307" "g.94543269G>A" "" "{PMID:Jiang 2016:26780318}" "" "p.R511C" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94077713G>A" "" "likely pathogenic (recessive)" ""
"0000766087" "1" "70" "1" "94506805" "94506805" "subst" "2.03051E-5" "01695" "ABCA4_001294" "g.94506805C>T" "" "{PMID:Jiang 2016:26780318}" "" "p.R1161H" "" "Unknown" "yes" "" "0" "" "" "g.94041249C>T" "" "likely pathogenic (recessive)" ""
"0000766088" "0" "90" "1" "94496601" "94496601" "del" "0" "01695" "ABCA4_001841" "g.94496601del" "" "{PMID:Jiang 2016:26780318}" "" "p.A1402LfsTer2" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94031045del" "" "pathogenic (recessive)" ""
"0000766089" "0" "90" "1" "94520830" "94520830" "subst" "0" "01695" "ABCA4_000727" "g.94520830G>C" "" "{PMID:Jiang 2016:26780318}" "" "p.Y808X" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94055274G>C" "" "pathogenic (recessive)" ""
"0000766090" "0" "70" "1" "94528128" "94528128" "subst" "0" "01695" "ABCA4_001258" "g.94528128C>T" "" "{PMID:Jiang 2016:26780318}" "" "c.1937+5G>A" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94062572C>T" "" "likely pathogenic (recessive)" ""
"0000766091" "1" "50" "1" "94543278" "94543278" "subst" "0.000178952" "01695" "ABCA4_000004" "g.94543278G>A" "" "{PMID:Jiang 2016:26780318}" "" "p.R508C" "" "Unknown" "yes" "" "0" "" "" "g.94077722G>A" "" "VUS" ""
"0000766092" "1" "50" "1" "94578589" "94578594" "del" "0" "01695" "ABCA4_000249" "g.94578589_94578594del" "" "{PMID:Jiang 2016:26780318}" "" "p.S34-L35del" "" "Unknown" "yes" "" "0" "" "" "g.94113033_94113038del" "" "VUS" ""
"0000766093" "1" "70" "1" "94544888" "94544888" "subst" "0" "01695" "ABCA4_001317" "g.94544888A>G" "" "{PMID:Jiang 2016:26780318}" "" "p.I410T" "" "Unknown" "yes" "" "0" "" "" "g.94079332A>G" "" "likely pathogenic (recessive)" ""
"0000766094" "1" "90" "1" "94520830" "94520830" "subst" "0" "01695" "ABCA4_000727" "g.94520830G>C" "" "{PMID:Jiang 2016:26780318}" "" "p.Y808X" "" "Unknown" "yes" "" "0" "" "" "g.94055274G>C" "" "pathogenic (recessive)" ""
"0000766095" "1" "70" "1" "94480232" "94480232" "subst" "0" "01695" "ABCA4_000444" "g.94480232G>A" "" "{PMID:Jiang 2016:26780318}" "" "p.P1776L" "" "Unknown" "yes" "" "0" "" "" "g.94014676G>A" "" "likely pathogenic (recessive)" ""
"0000766096" "1" "90" "1" "94528868" "94528868" "del" "0" "01695" "ABCA4_000304" "g.94528868del" "" "{PMID:Jiang 2016:26780318}" "" "p.V521SfsTer47" "" "Unknown" "yes" "" "0" "" "" "g.94063312del" "" "pathogenic (recessive)" ""
"0000766097" "1" "70" "1" "94480241" "94480241" "subst" "7.71705E-5" "01695" "ABCA4_000446" "g.94480241G>A" "" "{PMID:Jiang 2016:26780318}" "" "p.A1773V" "" "Unknown" "yes" "" "0" "" "" "g.94014685G>A" "" "likely pathogenic (recessive)" ""
"0000766098" "1" "70" "1" "94506923" "94506923" "subst" "2.43657E-5" "01695" "ABCA4_000012" "g.94506923C>T" "" "{PMID:Jiang 2016:26780318}" "" "p.E1122K" "" "Unknown" "yes" "" "0" "" "" "g.94041367C>T" "" "likely pathogenic (recessive)" ""
"0000766099" "1" "90" "1" "94485240" "94485240" "del" "0" "01695" "ABCA4_001731" "g.94485240del" "" "{PMID:Jiang 2016:26780318}" "" "p.L1699FfsTer3" "" "Unknown" "yes" "" "0" "" "" "g.94019684del" "" "pathogenic (recessive)" ""
"0000766100" "0" "90" "1" "94520830" "94520830" "subst" "0" "01695" "ABCA4_000727" "g.94520830G>C" "" "{PMID:Jiang 2016:26780318}" "" "p.Y808X" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94055274G>C" "" "pathogenic (recessive)" ""
"0000766101" "0" "90" "1" "94520662" "94520669" "del" "0" "01695" "ABCA4_002011" "g.94520662_94520669del" "" "{PMID:Jiang 2016:26780318}" "" "c.2587_2587+7delGgtaagca" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94055106_94055113del" "" "pathogenic (recessive)" ""
"0000766102" "3" "50" "1" "94578589" "94578594" "del" "0" "01695" "ABCA4_000249" "g.94578589_94578594del" "" "{PMID:Jiang 2016:26780318}" "" "p.S34-L35del" "" "Unknown" "yes" "" "0" "" "" "g.94113033_94113038del" "" "VUS" ""
"0000766103" "1" "70" "1" "94546261" "94546261" "subst" "0.000648567" "01695" "ABCA4_000353" "g.94546261G>A" "" "{PMID:Jiang 2016:26780318}" "" "p.P291L" "" "Unknown" "yes" "" "0" "" "" "g.94080705G>A" "" "likely pathogenic (recessive)" ""
"0000766104" "2" "70" "1" "94546150" "94546150" "subst" "4.06828E-6" "01695" "ABCA4_000346" "g.94546150T>A" "" "{PMID:Jiang 2016:26780318}" "" "p.E328V;p.E1036K" "" "Unknown" "yes" "" "0" "" "" "g.94080594T>A" "" "likely pathogenic (recessive)" ""
"0000766105" "1" "90" "1" "94520830" "94520830" "subst" "0" "01695" "ABCA4_000727" "g.94520830G>C" "" "{PMID:Jiang 2016:26780318}" "" "p.Y808X" "" "Unknown" "yes" "" "0" "" "" "g.94055274G>C" "" "pathogenic (recessive)" ""
"0000766106" "0" "70" "1" "94528819" "94528819" "subst" "2.03128E-5" "01695" "ABCA4_000078" "g.94528819G>A" "" "{PMID:Jiang 2016:26780318}" "" "p.R537C" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94063263G>A" "" "likely pathogenic (recessive)" ""
"0000766107" "0" "50" "1" "94578589" "94578594" "del" "0" "01695" "ABCA4_000249" "g.94578589_94578594del" "" "{PMID:Jiang 2016:26780318}" "" "p.S34-L35del" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94113033_94113038del" "" "VUS" ""
"0000766108" "1" "50" "1" "94487404" "94487404" "subst" "0.00244055" "01695" "ABCA4_000497" "g.94487404C>T" "" "{PMID:Jiang 2016:26780318}" "" "p.G1591R" "" "Unknown" "yes" "" "0" "" "" "g.94021848C>T" "" "VUS" ""
"0000766109" "3" "70" "1" "94506811" "94506811" "subst" "0" "01695" "ABCA4_001295" "g.94506811A>G" "" "{PMID:Jiang 2016:26780318}" "" "p.L1159S" "" "Unknown" "yes" "" "0" "" "" "g.94041255A>G" "" "likely pathogenic (recessive)" ""
"0000766110" "0" "90" "1" "94473855" "94473855" "subst" "0" "01695" "ABCA4_001649" "g.94473855T>C" "" "{PMID:Jiang 2016:26780318}" "" "c.5836-2A>G" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94008299T>C" "" "pathogenic (recessive)" ""
"0000766111" "0" "90" "1" "94568588" "94568588" "subst" "0" "01695" "ABCA4_002200" "g.94568588G>A" "" "{PMID:Jiang 2016:26780318}" "" "p.Q185X" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94103032G>A" "" "pathogenic (recessive)" ""
"0000766112" "1" "70" "1" "94506898" "94506898" "subst" "0" "01695" "ABCA4_001904" "g.94506898A>G" "" "{PMID:Jiang 2016:26780318}" "" "p.I1130T" "" "Unknown" "yes" "" "0" "" "" "g.94041342A>G" "" "likely pathogenic (recessive)" ""
"0000766113" "0" "70" "1" "94463583" "94463583" "subst" "8.12183E-6" "01695" "ABCA4_000806" "g.94463583A>G" "" "{PMID:Jiang 2016:26780318}" "" "p.F2188S" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.93998027A>G" "" "likely pathogenic (recessive)" ""
"0000766114" "1" "90" "1" "94548906" "94548906" "subst" "0" "01695" "ABCA4_000358" "g.94548906A>T" "" "{PMID:Jiang 2016:26780318}" "" "c.858+2T>A" "" "Unknown" "yes" "" "0" "" "" "g.94083350A>T" "" "pathogenic (recessive)" ""
"0000766115" "1" "90" "1" "94495181" "94495181" "subst" "0" "01695" "ABCA4_001816" "g.94495181G>T" "" "{PMID:Jiang 2016:26780318}" "" "p.Y1453X" "" "Unknown" "yes" "" "0" "" "" "g.94029625G>T" "" "pathogenic (recessive)" ""
"0000766116" "0" "90" "1" "94528868" "94528868" "del" "0" "01695" "ABCA4_000304" "g.94528868del" "" "{PMID:Jiang 2016:26780318}" "" "p.V521SfsTer47" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94063312del" "" "pathogenic (recessive)" ""
"0000766117" "0" "70" "1" "94564399" "94564399" "subst" "0" "01695" "ABCA4_001412" "g.94564399A>C" "" "{PMID:Jiang 2016:26780318}" "" "p.I240R" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94098843A>C" "" "likely pathogenic (recessive)" ""
"0000766118" "1" "90" "1" "94471056" "94471056" "subst" "2.84398E-5" "01695" "ABCA4_000050" "g.94471056G>A" "" "{PMID:Jiang 2016:26780318}" "" "p.R2030X" "" "Unknown" "yes" "" "0" "" "" "g.94005500G>A" "" "pathogenic (recessive)" ""
"0000766119" "1" "90" "1" "94577055" "94577056" "del" "0" "01695" "ABCA4_000229" "g.94577055_94577056del" "" "{PMID:Jiang 2016:26780318}" "" "p.C81FfsTer17" "" "Unknown" "yes" "" "0" "" "" "g.94111499_94111500del" "" "pathogenic (recessive)" ""
"0000766120" "1" "70" "1" "94496548" "94496548" "subst" "2.43787E-5" "01695" "ABCA4_000088" "g.94496548G>A" "" "{PMID:Jiang 2016:26780318}" "" "c.4253+4C>T" "" "Unknown" "yes" "" "0" "" "" "g.94030992G>A" "" "likely pathogenic (recessive)" ""
"0000766121" "0" "90" "1" "94508455" "94508455" "subst" "8.12434E-6" "01695" "ABCA4_000649" "g.94508455C>A" "" "{PMID:Jiang 2016:26780318}" "" "c.3191-1G>T" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94042899C>A" "" "pathogenic (recessive)" ""
"0000766122" "1" "70" "1" "94486895" "94486895" "subst" "3.24923E-5" "01695" "ABCA4_000484" "g.94486895C>T" "" "{PMID:Jiang 2016:26780318}" "" "p.R1640Q" "" "Unknown" "yes" "" "0" "" "" "g.94021339C>T" "" "likely pathogenic (recessive)" ""
"0000766123" "1" "90" "1" "94520830" "94520830" "subst" "0" "01695" "ABCA4_000727" "g.94520830G>C" "" "{PMID:Jiang 2016:26780318}" "" "p.Y808X" "" "Unknown" "yes" "" "0" "" "" "g.94055274G>C" "" "pathogenic (recessive)" ""
"0000766124" "1" "70" "1" "94586549" "94586549" "subst" "0" "01695" "ABCA4_001329" "g.94586549C>G" "" "{PMID:Jiang 2016:26780318}" "" "p.R18P" "" "Unknown" "yes" "" "0" "" "" "g.94120993C>G" "" "likely pathogenic (recessive)" ""
"0000766125" "1" "90" "1" "94528868" "94528868" "del" "0" "01695" "ABCA4_000304" "g.94528868del" "" "{PMID:Jiang 2016:26780318}" "" "p.V521SfsTer47" "" "Unknown" "yes" "" "0" "" "" "g.94063312del" "" "pathogenic (recessive)" ""
"0000766126" "0" "70" "1" "94528292" "94528292" "subst" "0" "01695" "ABCA4_002084" "g.94528292G>A" "" "{PMID:Jiang 2016:26780318}" "" "p.P593L" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94062736G>A" "" "likely pathogenic (recessive)" ""
"0000766127" "1" "70" "1" "94508322" "94508322" "subst" "1.62513E-5" "01695" "ABCA4_000128" "g.94508322C>T" "" "{PMID:Jiang 2016:26780318}" "" "p.R1108H" "" "Unknown" "yes" "" "0" "" "" "g.94042766C>T" "" "likely pathogenic (recessive)" ""
"0000766128" "1" "90" "1" "94520830" "94520830" "subst" "0" "01695" "ABCA4_000727" "g.94520830G>C" "" "{PMID:Jiang 2016:26780318}" "" "p.Y808X" "" "Unknown" "yes" "" "0" "" "" "g.94055274G>C" "" "pathogenic (recessive)" ""
"0000766129" "1" "70" "1" "94546150" "94546150" "subst" "4.06828E-6" "01695" "ABCA4_000346" "g.94546150T>A" "" "{PMID:Jiang 2016:26780318}" "" "p.E328V;p.E1036K" "" "Unknown" "yes" "" "0" "" "" "g.94080594T>A" "" "likely pathogenic (recessive)" ""
"0000766130" "1" "90" "1" "94528868" "94528868" "del" "0" "01695" "ABCA4_000304" "g.94528868del" "" "{PMID:Jiang 2016:26780318}" "" "p.V521SfsTer47" "" "Unknown" "yes" "" "0" "" "" "g.94063312del" "" "pathogenic (recessive)" ""
"0000766131" "1" "90" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Jiang 2016:26780318}" "" "p.N965S" "" "Unknown" "yes" "" "0" "" "" "g.94046943T>C" "" "pathogenic (recessive)" ""
"0000766132" "1" "70" "1" "94495008" "94495008" "subst" "0" "01695" "ABCA4_001802" "g.94495008G>T" "" "{PMID:Jiang 2016:26780318}" "" "p.P1511H" "" "Unknown" "yes" "" "0" "" "" "g.94029452G>T" "" "likely pathogenic (recessive)" ""
"0000766133" "0" "90" "1" "94520830" "94520830" "subst" "0" "01695" "ABCA4_000727" "g.94520830G>C" "" "{PMID:Jiang 2016:26780318}" "" "p.Y808X" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94055274G>C" "" "pathogenic (recessive)" ""
"0000766134" "1" "90" "1" "94546033" "94546033" "subst" "0" "01695" "ABCA4_000335" "g.94546033C>T" "" "{PMID:Jiang 2016:26780318}" "" "c.1099+1G>A" "" "Unknown" "yes" "" "0" "" "" "g.94080477C>T" "" "pathogenic (recessive)" ""
"0000766135" "1" "90" "1" "94520830" "94520830" "subst" "0" "01695" "ABCA4_000727" "g.94520830G>C" "" "{PMID:Jiang 2016:26780318}" "" "p.Y808X" "" "Unknown" "yes" "" "0" "" "" "g.94055274G>C" "" "pathogenic (recessive)" ""
"0000766136" "1" "90" "1" "94528868" "94528868" "del" "0" "01695" "ABCA4_000304" "g.94528868del" "" "{PMID:Jiang 2016:26780318}" "" "p.V521SfsTer47" "" "Unknown" "yes" "" "0" "" "" "g.94063312del" "" "pathogenic (recessive)" ""
"0000766137" "1" "70" "1" "94508425" "94508425" "subst" "0" "01695" "ABCA4_001937" "g.94508425T>G" "" "{PMID:Jiang 2016:26780318}" "" "p.I1074L;p.S34-L35del" "" "Unknown" "yes" "" "0" "" "" "g.94042869T>G" "" "likely pathogenic (recessive)" ""
"0000766138" "1" "50" "1" "94528137" "94528137" "subst" "2.03363E-5" "01695" "ABCA4_000774" "g.94528137C>T" "" "{PMID:Jiang 2016:26780318}" "" "p.D645N" "" "Unknown" "yes" "" "0" "" "" "g.94062581C>T" "" "VUS" ""
"0000766139" "1" "70" "1" "94471019" "94471019" "subst" "0" "01695" "ABCA4_001369" "g.94471019A>C" "" "{PMID:Jiang 2016:26780318}" "" "p.V2042G" "" "Unknown" "yes" "" "0" "" "" "g.94005463A>C" "" "likely pathogenic (recessive)" ""
"0000766140" "0" "70" "1" "94520807" "94520807" "subst" "0" "01695" "ABCA4_002026" "g.94520807C>A" "" "{PMID:Jiang 2016:26780318}" "" "p.G816V" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94055251C>A" "" "likely pathogenic (recessive)" ""
"0000766141" "1" "70" "1" "94577081" "94577081" "subst" "0" "01695" "ABCA4_002228" "g.94577081C>A" "" "{PMID:Jiang 2016:26780318}" "" "p.G72V" "" "Unknown" "yes" "" "0" "" "" "g.94111525C>A" "" "likely pathogenic (recessive)" ""
"0000766142" "3" "70" "1" "94506923" "94506923" "subst" "2.43657E-5" "01695" "ABCA4_000012" "g.94506923C>T" "" "{PMID:Jiang 2016:26780318}" "" "p.E1122K" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94041367C>T" "" "likely pathogenic (recessive)" ""
"0000766143" "3" "70" "1" "94522157" "94522157" "subst" "0" "01695" "ABCA4_002034" "g.94522157C>G" "" "{PMID:Jiang 2016:26780318}" "" "p.Q794Q*" "" "Unknown" "yes" "" "0" "" "" "g.94056601C>G" "" "likely pathogenic (recessive)" ""
"0000766144" "0" "90" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Jiang 2016:26780318}" "" "p.N965S" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94046943T>C" "" "pathogenic (recessive)" ""
"0000766145" "1" "70" "1" "94577006" "94577006" "subst" "8.13511E-6" "01695" "ABCA4_001324" "g.94577006T>C" "" "{PMID:Jiang 2016:26780318}" "" "p.Y97C" "" "Unknown" "yes" "" "0" "" "" "g.94111450T>C" "" "likely pathogenic (recessive)" ""
"0000766146" "0" "70" "1" "94543269" "94543269" "subst" "0.000179087" "01695" "ABCA4_000307" "g.94543269G>A" "" "{PMID:Jiang 2016:26780318}" "" "p.R511C" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94077713G>A" "" "likely pathogenic (recessive)" ""
"0000766147" "1" "50" "1" "94467506" "94467506" "subst" "3.24913E-5" "01695" "ABCA4_000785" "g.94467506C>T" "" "{PMID:Jiang 2016:26780318}" "" "p.A2064T" "" "Unknown" "yes" "" "0" "" "" "g.94001950C>T" "" "VUS" ""
"0000766148" "0" "70" "1" "94586560" "94586560" "subst" "0" "01695" "ABCA4_001330" "g.94586560G>T" "" "{PMID:Jiang 2016:26780318}" "" "p.N14K" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94121004G>T" "" "likely pathogenic (recessive)" ""
"0000766149" "1" "90" "1" "94509026" "94509026" "subst" "4.06497E-5" "01695" "ABCA4_000660" "g.94509026G>A" "" "{PMID:Jiang 2016:26780318}" "" "p.T1019M" "" "Unknown" "yes" "" "0" "" "" "g.94043470G>A" "" "pathogenic (recessive)" ""
"0000766150" "1" "70" "1" "94546150" "94546150" "subst" "4.06828E-6" "01695" "ABCA4_000346" "g.94546150T>A" "" "{PMID:Jiang 2016:26780318}" "" "p.E328V" "" "Unknown" "yes" "" "0" "" "" "g.94080594T>A" "" "likely pathogenic (recessive)" ""
"0000766151" "1" "70" "1" "94586549" "94586549" "subst" "0" "01695" "ABCA4_001329" "g.94586549C>G" "" "{PMID:Jiang 2016:26780318}" "" "p.R18P" "" "Unknown" "yes" "" "0" "" "" "g.94120993C>G" "" "likely pathogenic (recessive)" ""
"0000766152" "3" "90" "1" "94505684" "94505684" "del" "0" "01695" "ABCA4_001892" "g.94505684del" "" "{PMID:Jiang 2016:26780318}" "" "p.T1176PfsTer20" "" "Unknown" "yes" "" "0" "" "" "g.94040128del" "" "pathogenic (recessive)" ""
"0000766153" "1" "70" "1" "94506805" "94506805" "subst" "2.03051E-5" "01695" "ABCA4_001294" "g.94506805C>T" "" "{PMID:Jiang 2016:26780318}" "" "p.R1161H" "" "Unknown" "yes" "" "0" "" "" "g.94041249C>T" "" "likely pathogenic (recessive)" ""
"0000766154" "0" "70" "1" "94546099" "94546099" "subst" "0" "01695" "ABCA4_001390" "g.94546099T>G" "" "{PMID:Jiang 2016:26780318}" "" "p.Y345S" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94080543T>G" "" "likely pathogenic (recessive)" ""
"0000766155" "1" "90" "1" "94528868" "94528868" "del" "0" "01695" "ABCA4_000304" "g.94528868del" "" "{PMID:Jiang 2016:26780318}" "" "p.V521SfsTer47" "" "Unknown" "yes" "" "0" "" "" "g.94063312del" "" "pathogenic (recessive)" ""
"0000766156" "0" "70" "1" "94522278" "94522278" "subst" "0" "01695" "ABCA4_001306" "g.94522278A>G" "" "{PMID:Jiang 2016:26780318}" "" "p.F754S" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94056722A>G" "" "likely pathogenic (recessive)" ""
"0000766157" "0" "90" "1" "94520830" "94520830" "subst" "0" "01695" "ABCA4_000727" "g.94520830G>C" "" "{PMID:Jiang 2016:26780318}" "" "p.Y808X" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94055274G>C" "" "pathogenic (recessive)" ""
"0000766158" "0" "70" "1" "94526295" "94526295" "subst" "3.69731E-5" "01695" "ABCA4_000114" "g.94526295C>T" "" "{PMID:Jiang 2016:26780318}" "" "p.R653H" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94060739C>T" "" "likely pathogenic (recessive)" ""
"0000766159" "1" "50" "1" "94578589" "94578594" "del" "0" "01695" "ABCA4_000249" "g.94578589_94578594del" "" "{PMID:Jiang 2016:26780318}" "" "p.S34-L35del" "" "Unknown" "yes" "" "0" "" "" "g.94113033_94113038del" "" "VUS" ""
"0000766160" "0" "70" "1" "94528873" "94528873" "subst" "4.0714E-6" "01695" "ABCA4_002109" "g.94528873A>G" "" "{PMID:Jiang 2016:26780318}" "" "p.C519R;p.G550R" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94063317A>G" "" "likely pathogenic (recessive)" ""
"0000766161" "1" "90" "1" "94528868" "94528868" "del" "0" "01695" "ABCA4_000304" "g.94528868del" "" "{PMID:Jiang 2016:26780318}" "" "p.V521SfsTer47" "" "Unknown" "yes" "" "0" "" "" "g.94063312del" "" "pathogenic (recessive)" ""
"0000766162" "1" "90" "1" "94520830" "94520830" "subst" "0" "01695" "ABCA4_000727" "g.94520830G>C" "" "{PMID:Jiang 2016:26780318}" "" "p.Y808X" "" "Unknown" "yes" "" "0" "" "" "g.94055274G>C" "" "pathogenic (recessive)" ""
"0000766163" "0" "90" "1" "94487401" "94487401" "subst" "0" "01695" "ABCA4_000495" "g.94487401C>A" "" "{PMID:Jiang 2016:26780318}" "" "c.4773+1G>T" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94021845C>A" "" "pathogenic (recessive)" ""
"0000766164" "1" "70" "1" "94546150" "94546150" "subst" "4.06828E-6" "01695" "ABCA4_000346" "g.94546150T>A" "" "{PMID:Jiang 2016:26780318}" "" "p.E328V;p.E1036K" "" "Unknown" "yes" "" "0" "" "" "g.94080594T>A" "" "likely pathogenic (recessive)" ""
"0000766165" "1" "90" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Jiang 2016:26780318}" "" "p.N965S" "" "Unknown" "yes" "" "0" "" "" "g.94046943T>C" "" "pathogenic (recessive)" ""
"0000766166" "1" "90" "1" "94568625" "94568625" "del" "0" "01695" "ABCA4_000206" "g.94568625del" "" "{PMID:Jiang 2016:26780318}" "" "p.L173CfsTer9" "" "Unknown" "yes" "" "0" "" "" "g.94103069del" "" "pathogenic (recessive)" ""
"0000766167" "1" "90" "1" "94520830" "94520830" "subst" "0" "01695" "ABCA4_000727" "g.94520830G>C" "" "{PMID:Jiang 2016:26780318}" "" "p.Y808X" "" "Unknown" "yes" "" "0" "" "" "g.94055274G>C" "" "pathogenic (recessive)" ""
"0000766168" "0" "90" "1" "94512500" "94512500" "subst" "0" "01695" "ABCA4_000685" "g.94512500T>A" "" "{PMID:Jiang 2016:26780318}" "" "p.N965Y" "no variant 2nd chromosome; no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94046944T>A" "" "pathogenic (recessive)" ""
"0000766169" "0" "70" "1" "94546150" "94546150" "subst" "4.06828E-6" "01695" "ABCA4_000346" "g.94546150T>A" "" "{PMID:Jiang 2016:26780318}" "" "p.E328V" "no variant 2nd chromosome; no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94080594T>A" "" "likely pathogenic (recessive)" ""
"0000766170" "0" "50" "1" "94476417" "94476417" "subst" "0" "01695" "ABCA4_000416" "g.94476417C>T" "" "{PMID:Jiang 2016:26780318}" "" "p.E1885K" "no variant 2nd chromosome; no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010861C>T" "" "VUS" ""
"0000766171" "1" "70" "1" "94528262" "94528262" "subst" "0" "01695" "ABCA4_002082" "g.94528262T>C" "" "{PMID:Jiang 2016:26780318}" "" "p.Y603;Cp.R2038W" "" "Unknown" "yes" "" "0" "" "" "g.94062706T>C" "" "likely pathogenic (recessive)" ""
"0000766172" "0" "70" "1" "94463583" "94463583" "subst" "8.12183E-6" "01695" "ABCA4_000806" "g.94463583A>G" "" "{PMID:Jiang 2016:26780318}" "" "p.F2188S" "no variant 2nd chromosome; no segregation analysis done" "Unknown" "" "" "0" "" "" "g.93998027A>G" "" "likely pathogenic (recessive)" ""
"0000766173" "0" "90" "1" "94526194" "94526194" "dup" "0" "01695" "ABCA4_001308" "g.94526194dup" "" "{PMID:Jiang 2016:26780318}" "" "p.N688KfsTer78" "no variant 2nd chromosome; no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94060638dup" "" "pathogenic (recessive)" ""
"0000766174" "0" "70" "1" "94509017" "94509017" "subst" "0" "01695" "ABCA4_000658" "g.94509017T>C" "" "{PMID:Jiang 2016:26780318}" "" "p.E1022G" "no variant 2nd chromosome; no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94043461T>C" "" "likely pathogenic (recessive)" ""
"0000766175" "0" "70" "1" "94496547" "94496547" "subst" "1.21904E-5" "01695" "ABCA4_000560" "g.94496547C>T" "" "{PMID:Jiang 2016:26780318}" "" "c.4253+5G>A" "no variant 2nd chromosome; no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94030991C>T" "" "likely pathogenic (recessive)" ""
"0000766176" "0" "70" "1" "94474380" "94474380" "subst" "0" "01695" "ABCA4_001659" "g.94474380A>C" "" "{PMID:Jiang 2016:26780318}" "" "p.V1921G" "no variant 2nd chromosome; no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94008824A>C" "" "likely pathogenic (recessive)" ""
"0000766177" "1" "90" "1" "94486866" "94486866" "subst" "0" "01695" "ABCA4_001364" "g.94486866C>A" "" "{PMID:Jiang 2016:26780318}" "" "p.E1650X" "" "Unknown" "yes" "" "0" "" "" "g.94021310C>A" "" "pathogenic (recessive)" ""
"0000766178" "1" "50" "1" "94578589" "94578594" "del" "0" "01695" "ABCA4_000249" "g.94578589_94578594del" "" "{PMID:Jiang 2016:26780318}" "" "p.S34-L35del" "" "Unknown" "yes" "" "0" "" "" "g.94113033_94113038del" "" "VUS" ""
"0000766179" "1" "90" "1" "94488941" "94488941" "subst" "0" "01695" "ABCA4_001772" "g.94488941C>A" "" "{PMID:Jiang 2016:26780318}" "" "c.4667+1G>T" "" "Unknown" "yes" "" "0" "" "" "g.94023385C>A" "" "pathogenic (recessive)" ""
"0000766180" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Jiang 2016:26780318}" "" "p.G1961E" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000766181" "1" "90" "1" "94526199" "94526199" "del" "0" "01695" "ABCA4_001526" "g.94526199del" "" "{PMID:Jiang 2016:26780318}" "" "p.L686X" "" "Unknown" "yes" "" "0" "" "" "g.94060643del" "" "pathogenic (recessive)" ""
"0000766182" "0" "70" "1" "94480241" "94480241" "subst" "7.71705E-5" "01695" "ABCA4_000446" "g.94480241G>A" "" "{PMID:Jiang 2016:26780318}" "" "p.A1773V" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94014685G>A" "" "likely pathogenic (recessive)" ""
"0000766183" "1" "90" "1" "94502700" "94502700" "subst" "0" "01695" "ABCA4_001868" "g.94502700C>T" "" "{PMID:Jiang 2016:26780318}" "" "c.3813+1G>A" "" "Unknown" "yes" "" "0" "" "" "g.94037144C>T" "" "pathogenic (recessive)" ""
"0000766184" "1" "70" "1" "94546174" "94546174" "subst" "0" "01695" "ABCA4_002151" "g.94546174G>C" "" "{PMID:Jiang 2016:26780318}" "" "p.S320C;p.W339X" "" "Unknown" "yes" "" "0" "" "" "g.94080618G>C" "" "likely pathogenic (recessive)" ""
"0000766185" "3" "90" "1" "94520830" "94520830" "subst" "0" "01695" "ABCA4_000727" "g.94520830G>C" "" "{PMID:Jiang 2016:26780318}" "" "p.Y808X" "" "Unknown" "yes" "" "0" "" "" "g.94055274G>C" "" "pathogenic (recessive)" ""
"0000766186" "1" "50" "1" "94577132" "94577132" "subst" "0" "01695" "ABCA4_000239" "g.94577132T>C" "" "{PMID:Jiang 2016:26780318}" "" "p.H55R" "" "Unknown" "yes" "" "0" "" "" "g.94111576T>C" "" "VUS" ""
"0000766187" "1" "70" "1" "94543269" "94543269" "subst" "0.000179087" "01695" "ABCA4_000307" "g.94543269G>A" "" "{PMID:Jiang 2016:26780318}" "" "p.R511C;p.P2043S" "" "Unknown" "yes" "" "0" "" "" "g.94077713G>A" "" "likely pathogenic (recessive)" ""
"0000766188" "3" "90" "1" "94578532" "94578532" "subst" "4.06141E-6" "01695" "ABCA4_002238" "g.94578532C>A" "" "{PMID:Jiang 2016:26780318}" "" "p.E53X" "" "Unknown" "yes" "" "0" "" "" "g.94112976C>A" "" "pathogenic (recessive)" ""
"0000766189" "1" "90" "1" "94528256" "94528256" "subst" "0" "01695" "ABCA4_002080" "g.94528256C>T" "" "{PMID:Jiang 2016:26780318}" "" "p.W605X" "" "Unknown" "yes" "" "0" "" "" "g.94062700C>T" "" "pathogenic (recessive)" ""
"0000766190" "1" "50" "1" "94543278" "94543278" "subst" "0.000178952" "01695" "ABCA4_000004" "g.94543278G>A" "" "{PMID:Jiang 2016:26780318}" "" "p.R508C" "" "Unknown" "yes" "" "0" "" "" "g.94077722G>A" "" "VUS" ""
"0000766191" "0" "50" "1" "94471025" "94471025" "subst" "0.00031698" "01695" "ABCA4_000096" "g.94471025C>T" "" "{PMID:Jiang 2016:26780318}" "" "p.R2040Q" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94005469C>T" "" "VUS" ""
"0000766192" "3" "70" "1" "94577109" "94577109" "subst" "0" "01695" "ABCA4_002229" "g.94577109A>G" "" "{PMID:Jiang 2016:26780318}" "" "p.S63P" "" "Unknown" "yes" "" "0" "" "" "g.94111553A>G" "" "likely pathogenic (recessive)" ""
"0000766193" "1" "70" "1" "94586549" "94586549" "subst" "0" "01695" "ABCA4_001329" "g.94586549C>G" "" "{PMID:Jiang 2016:26780318}" "" "p.R18P" "" "Unknown" "yes" "" "0" "" "" "g.94120993C>G" "" "likely pathogenic (recessive)" ""
"0000766194" "1" "90" "1" "94528868" "94528868" "del" "0" "01695" "ABCA4_000304" "g.94528868del" "" "{PMID:Jiang 2016:26780318}" "" "p.V521SfsTer47" "" "Unknown" "yes" "" "0" "" "" "g.94063312del" "" "pathogenic (recessive)" ""
"0000766195" "0" "90" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Jiang 2016:26780318}" "" "p.R2107H" "no variant 2nd chromosome; no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94001068C>T" "" "pathogenic (recessive)" ""
"0000766196" "0" "70" "1" "94466434" "94466434" "subst" "0" "01695" "ABCA4_000821" "g.94466434C>T" "" "{PMID:Jiang 2016:26780318}" "" "p.G2146D" "no variant 2nd chromosome; no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94000878C>T" "" "likely pathogenic (recessive)" ""
"0000766197" "0" "90" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Jiang 2016:26780318}" "" "p.N965S" "no variant 2nd chromosome; no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94046943T>C" "" "pathogenic (recessive)" ""
"0000766198" "0" "50" "1" "94578589" "94578594" "del" "0" "01695" "ABCA4_000249" "g.94578589_94578594del" "" "{PMID:Jiang 2016:26780318}" "" "p.S34-L35del" "no variant 2nd chromosome; no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94113033_94113038del" "" "VUS" ""
"0000766199" "0" "70" "1" "94495032" "94495032" "subst" "0" "01695" "ABCA4_001805" "g.94495032G>A" "" "{PMID:Jiang 2016:26780318}" "" "p.P1503L" "no variant 2nd chromosome; no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94029476G>A" "" "likely pathogenic (recessive)" ""
"0000766200" "0" "70" "1" "94495032" "94495032" "subst" "0" "01695" "ABCA4_001805" "g.94495032G>A" "" "{PMID:Jiang 2016:26780318}" "" "p.P1503L" "no variant 2nd chromosome; no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94029476G>A" "" "likely pathogenic (recessive)" ""
"0000766201" "0" "50" "1" "94526230" "94526230" "subst" "7.32136E-5" "01695" "ABCA4_000760" "g.94526230C>T" "" "{PMID:Jiang 2016:26780318}" "" "p.V675I" "no variant 2nd chromosome; not in Suppl.1" "Unknown" "" "" "0" "" "" "g.94060674C>T" "" "VUS" ""
"0000766202" "0" "90" "1" "94496571" "94496571" "subst" "4.06174E-6" "01695" "ABCA4_000111" "g.94496571G>A" "" "{PMID:Birtel 2018:29555955}" "" "p.Gln1412*" "" "Unknown" "" "" "0" "" "" "g.94031015G>A" "" "pathogenic (recessive)" ""
"0000766203" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Birtel 2018:29555955}" "" "p.Arg1108Cys" "" "Unknown" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000766204" "0" "70" "1" "94476890" "94476890" "subst" "4.06227E-6" "01695" "ABCA4_000434" "g.94476890G>C" "" "{PMID:Birtel 2018:29555955}" "" "p.His1838Asp" "" "Unknown" "" "" "0" "" "" "g.94011334G>C" "" "likely pathogenic (recessive)" ""
"0000766205" "3" "70" "1" "94461735" "94461735" "subst" "0" "01695" "ABCA4_001414" "g.94461735G>T" "" "{PMID:Birtel 2018:29555955}" "" "p.Ala2249Asp" "" "Unknown" "" "" "0" "" "" "g.93996179G>T" "" "likely pathogenic (recessive)" ""
"0000766206" "1" "70" "1" "94528248" "94528248" "subst" "1.22148E-5" "01695" "ABCA4_000279" "g.94528248A>T" "" "{PMID:Birtel 2018:29555955}" "" "p.Phe608Ile" "" "Unknown" "" "" "0" "" "" "g.94062692A>T" "" "likely pathogenic (recessive)" ""
"0000766207" "0" "70" "1" "94544249" "94544249" "subst" "8.12196E-6" "01695" "ABCA4_000323" "g.94544249A>G" "" "{PMID:Birtel 2018:29555955}" "" "p.Phe418Ser" "" "Unknown" "" "" "0" "" "" "g.94078693A>G" "" "likely pathogenic (recessive)" ""
"0000766208" "2" "70" "1" "94586550" "94586550" "subst" "1.21864E-5" "01695" "ABCA4_000037" "g.94586550G>A" "" "{PMID:Birtel 2018:29555955}" "" "p.Arg18Trp" "" "Unknown" "" "" "0" "" "" "g.94120994G>A" "" "likely pathogenic (recessive)" ""
"0000766209" "0" "70" "1" "94476893" "94476893" "subst" "4.0624E-6" "01695" "ABCA4_001418" "g.94476893G>T" "" "{PMID:Birtel 2018:29555955}" "" "p.Pro1837Thr" "" "Unknown" "" "" "0" "" "" "g.94011337G>T" "" "likely pathogenic (recessive)" ""
"0000766210" "0" "50" "1" "94528774" "94528774" "subst" "0.00264827" "01695" "ABCA4_000298" "g.94528774C>T" "" "{PMID:Birtel 2018:29555955}" "" "p.Val552Ile" "" "Unknown" "" "" "0" "" "" "g.94063218C>T" "" "VUS" ""
"0000766211" "0" "90" "1" "94544196" "94544196" "del" "0" "01695" "ABCA4_000318" "g.94544196del" "" "{PMID:Birtel 2018:29555955}" "" "p.Gln437Argfs*12" "" "Unknown" "" "" "0" "" "" "g.94078640del" "" "pathogenic (recessive)" ""
"0000766212" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Birtel 2018:29555955}" "" "p.Ala1038Val" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000766213" "0" "90" "1" "94577090" "94577090" "subst" "0" "01695" "ABCA4_000233" "g.94577090C>T" "" "{PMID:Birtel 2018:29555955}" "" "p.Trp69*" "" "Unknown" "" "" "0" "" "" "g.94111534C>T" "" "pathogenic (recessive)" ""
"0000766214" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Birtel 2018:29555955}" "" "p.Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000766215" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Birtel 2018:29555955}" "" "p.(?)" "" "Unknown" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000766216" "2" "90" "1" "94528240" "94528240" "subst" "4.06775E-6" "01695" "ABCA4_001434" "g.94528240A>T" "" "{PMID:Birtel 2018:29555955}" "" "p.Tyr610*" "" "Unknown" "" "" "0" "" "" "g.94062684A>T" "" "pathogenic (recessive)" ""
"0000766217" "0" "50" "1" "94520853" "94520853" "subst" "8.14783E-6" "01695" "ABCA4_000729" "g.94520853C>T" "" "{PMID:Birtel 2018:29555955}" "" "p.Ala801Thr" "" "Unknown" "" "" "0" "" "" "g.94055297C>T" "" "VUS" ""
"0000766218" "3" "70" "1" "94495078" "94495078" "subst" "8.37044E-6" "01695" "ABCA4_000042" "g.94495078A>G" "" "{PMID:Birtel 2018:29555955}" "" "p.Cys1488Arg" "" "Unknown" "" "" "0" "" "" "g.94029522A>G" "" "likely pathogenic (recessive)" ""
"0000766219" "0" "90" "1" "94586557" "94586557" "subst" "4.06134E-6" "01695" "ABCA4_000259" "g.94586557C>T" "" "{PMID:Birtel 2018:29555955}" "" "p.Trp15*" "" "Unknown" "" "" "0" "" "" "g.94121001C>T" "" "pathogenic (recessive)" ""
"0000766220" "0" "70" "1" "94486896" "94486896" "subst" "3.65562E-5" "01695" "ABCA4_000085" "g.94486896G>A" "" "{PMID:Birtel 2018:29555955}" "" "p.Arg1640Trp" "" "Unknown" "" "" "0" "" "" "g.94021340G>A" "" "likely pathogenic (recessive)" ""
"0000766221" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Birtel 2018:29555955}" "" "p.Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000766222" "3" "70" "1" "94495078" "94495078" "subst" "8.37044E-6" "01695" "ABCA4_000042" "g.94495078A>G" "" "{PMID:Birtel 2018:29555955}" "" "p.Cys1488Arg" "" "Unknown" "" "" "0" "" "" "g.94029522A>G" "" "likely pathogenic (recessive)" ""
"0000766223" "1" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Birtel 2018:29555955}" "" "p.Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000766224" "0" "70" "1" "94508373" "94508373" "subst" "0" "01695" "ABCA4_000639" "g.94508373C>T" "" "{PMID:Birtel 2018:29555955}" "" "p.Gly1091Glu" "" "Unknown" "" "" "0" "" "" "g.94042817C>T" "" "likely pathogenic (recessive)" ""
"0000766225" "0" "50" "1" "94496610" "94496610" "subst" "2.03128E-5" "01695" "ABCA4_000571" "g.94496610C>T" "" "{PMID:Birtel 2018:29555955}" "" "p.Glu1399Lys" "" "Unknown" "" "" "0" "" "" "g.94031054C>T" "" "VUS" ""
"0000766227" "0" "50" "1" "94520853" "94520853" "subst" "8.14783E-6" "01695" "ABCA4_000729" "g.94520853C>T" "" "{PMID:Birtel 2018:29555955}" "" "p.Ala801Thr" "" "Unknown" "" "" "0" "" "" "g.94055297C>T" "" "VUS" ""
"0000766228" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Birtel 2018:29555955}" "" "p.Gly863Ala" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000766229" "0" "70" "1" "94476890" "94476890" "subst" "4.06227E-6" "01695" "ABCA4_000434" "g.94476890G>C" "" "{PMID:Birtel 2018:29555955}" "" "p.His1838Asp" "" "Unknown" "" "" "0" "" "" "g.94011334G>C" "" "likely pathogenic (recessive)" ""
"0000766230" "0" "70" "1" "94577102" "94577102" "subst" "4.06161E-6" "01695" "ABCA4_000033" "g.94577102C>T" "" "{PMID:Birtel 2018:29555955}" "" "p.Gly65Glu" "" "Unknown" "" "" "0" "" "" "g.94111546C>T" "" "likely pathogenic (recessive)" ""
"0000766231" "0" "70" "1" "94543389" "94543389" "subst" "0" "01695" "ABCA4_001436" "g.94543389C>G" "" "{PMID:Birtel 2018:29555955}" "" "p.Glu471Lys" "" "Unknown" "" "" "0" "" "" "g.94077833C>G" "" "likely pathogenic (recessive)" ""
"0000766232" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Birtel 2018:29555955}" "" "p.Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000766233" "0" "90" "1" "94496571" "94496571" "subst" "4.06174E-6" "01695" "ABCA4_000111" "g.94496571G>A" "" "{PMID:Birtel 2018:29555955}" "" "p.Gln412Tyr" "" "Unknown" "" "" "0" "" "" "g.94031015G>A" "" "pathogenic (recessive)" ""
"0000766234" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Birtel 2018:29555955}" "" "p.(?)" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000766235" "0" "90" "1" "94495009" "94495009" "dup" "0" "01695" "ABCA4_000087" "g.94495009dup" "" "{PMID:Birtel 2018:29555955}" "" "p.Gln1513Profs*42" "" "Unknown" "" "" "0" "" "" "g.94029453dup" "" "pathogenic (recessive)" ""
"0000766236" "0" "50" "1" "94496610" "94496610" "subst" "2.03128E-5" "01695" "ABCA4_000571" "g.94496610C>T" "" "{PMID:Birtel 2018:29555955}" "" "p.Glu1399Lys" "" "Unknown" "" "" "0" "" "" "g.94031054C>T" "" "VUS" ""
"0000766237" "0" "90" "1" "94485145" "94485145" "subst" "0" "01695" "ABCA4_001015" "g.94485145C>T" "" "{PMID:Birtel 2018:29555955}{PMID:Müller 2020:31917732}" "" "p.Trp1730*" "" "Unknown" "" "" "0" "" "" "g.94019589C>T" "" "pathogenic (recessive)" ""
"0000766238" "0" "90" "1" "94528132" "94528132" "subst" "4.06835E-6" "01695" "ABCA4_000773" "g.94528132C>T" "" "{PMID:Birtel 2018:29555955}" "" "del Exons 12-13" "" "Unknown" "" "" "0" "" "" "g.94062576C>T" "" "pathogenic (recessive)" ""
"0000766239" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Birtel 2018:29555955}" "" "p.Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000766240" "3" "90" "1" "94485162" "94485162" "subst" "0" "01695" "ABCA4_001419" "g.94485162C>T" "" "{PMID:Birtel 2018:29555955}" "" "p.Trp1724*" "" "Unknown" "" "" "0" "" "" "g.94019606C>T" "" "pathogenic (recessive)" ""
"0000766241" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Birtel 2018:29555955}" "" "p.Leu541Pro" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000766242" "2" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Birtel 2018:29555955}" "" "p.Asn1868Ile" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000766243" "0" "90" "1" "94506819" "94506819" "subst" "0" "01695" "ABCA4_001426" "g.94506819G>C" "" "{PMID:Birtel 2018:29555955}" "" "p.Tyr1156*" "" "Unknown" "" "" "0" "" "" "g.94041263G>C" "" "pathogenic (recessive)" ""
"0000766244" "0" "90" "1" "94508986" "94508986" "del" "0" "01695" "ABCA4_001428" "g.94508986del" "" "{PMID:Birtel 2018:29555955}" "" "p.Lys1033Serfs*51" "" "Unknown" "" "" "0" "" "" "g.94043430del" "" "pathogenic (recessive)" ""
"0000766245" "0" "90" "1" "94508433" "94508433" "subst" "8.12209E-6" "01695" "ABCA4_000151" "g.94508433G>A" "" "{PMID:Birtel 2018:29555955}" "" "p.Ser1071Leu" "" "Unknown" "" "" "0" "" "" "g.94042877G>A" "" "pathogenic (recessive)" ""
"0000766246" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Birtel 2018:29555955}" "" "p.Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000766247" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Birtel 2018:29555955}" "" "p.Val256Val" "" "Unknown" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000766248" "0" "70" "1" "94471055" "94471055" "subst" "0.00035346" "01695" "ABCA4_000029" "g.94471055C>T" "" "{PMID:Birtel 2018:29555955}" "" "p.Arg2030Gln" "" "Unknown" "" "" "0" "" "" "g.94005499C>T" "" "likely pathogenic (recessive)" ""
"0000766249" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Birtel 2018:29555955}{PMID:Müller 2020:32891696}{PMID:Müller 2020:32751377}" "" "p.Asn1868Ile" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000766250" "0" "90" "1" "94497591" "94497591" "subst" "0" "01695" "ABCA4_000587" "g.94497591G>A" "" "{PMID:Birtel 2018:29555955}" "" "p.Gln1291*" "" "Unknown" "" "" "0" "" "" "g.94032035G>A" "" "pathogenic (recessive)" ""
"0000766252" "0" "90" "1" "94508316" "94510301" "del" "0" "01695" "ABCA4_000041" "g.(94506959_94508316)_(94510301_94512474)del" "" "{PMID:Birtel 2018:29555955}" "" "p.(?)" "" "Unknown" "" "" "0" "" "" "g.(94041403_94042760)_(94044745_94046918)del" "" "pathogenic (recessive)" ""
"0000766253" "0" "70" "1" "94528248" "94528248" "subst" "1.22148E-5" "01695" "ABCA4_000279" "g.94528248A>T" "" "{PMID:Birtel 2018:29555955}" "" "p.Phe608Ile" "" "Unknown" "" "" "0" "" "" "g.94062692A>T" "" "likely pathogenic (recessive)" ""
"0000766254" "0" "70" "1" "94510271" "94510271" "subst" "0" "01695" "ABCA4_000670" "g.94510271G>A" "" "{PMID:Birtel 2018:29555955}" "" "p.Thr983Ile" "" "Unknown" "" "" "0" "" "" "g.94044715G>A" "" "likely pathogenic (recessive)" ""
"0000766255" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Birtel 2018:29555955}" "" "p.Leu541Pro" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000766256" "0" "70" "1" "94471055" "94471055" "subst" "0.00035346" "01695" "ABCA4_000029" "g.94471055C>T" "" "{PMID:Birtel 2018:29555955}" "" "p.Arg2030Gln" "" "Unknown" "" "" "0" "" "" "g.94005499C>T" "" "likely pathogenic (recessive)" ""
"0000766257" "0" "70" "1" "94528263" "94528263" "subst" "0" "01695" "ABCA4_001348" "g.94528263A>G" "" "{PMID:Birtel 2018:29555955}" "" "p.Tyr603His" "" "Unknown" "" "" "0" "" "" "g.94062707A>G" "" "likely pathogenic (recessive)" ""
"0000766258" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Birtel 2018:29555955}" "" "p.(?)" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000766259" "0" "90" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Birtel 2018:29555955}" "" "p.Arg212Cys" "" "Unknown" "" "" "0" "" "" "g.94098928G>A" "" "pathogenic (recessive)" ""
"0000766260" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Birtel 2018:29555955}" "" "p.Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000766261" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Birtel 2018:29555955}" "" "p.(?)" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000766262" "1" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Birtel 2018:29555955}" "" "p.Asn1868Ile" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000766263" "0" "70" "1" "94471032" "94471032" "subst" "1.62553E-5" "01695" "ABCA4_000792" "g.94471032G>A" "" "{PMID:Birtel 2018:29555955}" "" "p.Arg2038Trp" "" "Unknown" "" "" "0" "" "" "g.94005476G>A" "" "likely pathogenic (recessive)" ""
"0000766264" "0" "90" "1" "94508435" "94508436" "dup" "0" "01695" "ABCA4_000998" "g.94508435_94508436dup" "" "{PMID:Birtel 2018:29555955}" "" "p.Ser1071Cysfs*14" "" "Unknown" "" "" "0" "" "" "g.94042879_94042880dup" "" "pathogenic (recessive)" ""
"0000766265" "0" "90" "1" "94496571" "94496571" "subst" "4.06174E-6" "01695" "ABCA4_000111" "g.94496571G>A" "" "{PMID:Birtel 2018:29555955}" "" "p.Glu1412*" "" "Unknown" "" "" "0" "" "" "g.94031015G>A" "" "pathogenic (recessive)" ""
"0000766266" "0" "90" "1" "94564374" "94564377" "del" "0" "01695" "ABCA4_001439" "g.94564374_94564377del" "" "{PMID:Birtel 2018:29555955}" "" "p.Asn247Lysfs*14" "" "Unknown" "" "" "0" "" "" "g.94098818_94098821del" "" "pathogenic (recessive)" ""
"0000766267" "0" "50" "1" "94528278" "94528278" "subst" "8.14571E-5" "01695" "ABCA4_000286" "g.94528278C>T" "" "{PMID:Birtel 2018:29555955}" "" "p.Val598Met" "" "Unknown" "" "" "0" "" "" "g.94062722C>T" "" "VUS" ""
"0000766268" "1" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Birtel 2018:29555955}" "" "p.(?)" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000766269" "1" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Birtel 2018:29555955}" "" "p.Asn1868Ile" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000766270" "0" "90" "1" "94526212" "94526212" "subst" "1.22012E-5" "01695" "ABCA4_000075" "g.94526212G>A" "" "{PMID:Birtel 2018:29555955}" "" "p.Arg681*" "" "Unknown" "" "" "0" "" "" "g.94060656G>A" "" "pathogenic (recessive)" ""
"0000766271" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Birtel 2018:29555955}" "" "p.Asn1868Ile" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000766272" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Birtel 2018:29555955}" "" "p.(?)" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000766273" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Birtel 2018:29555955}" "" "p.Asn1868Ile" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000766274" "1" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Birtel 2018:29555955}" "" "p.(?)" "" "Unknown" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000766275" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Birtel 2018:29555955}" "" "p.Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000766276" "0" "90" "1" "94568671" "94568671" "subst" "0" "01695" "ABCA4_000947" "g.94568671A>T" "" "{PMID:Birtel 2018:29555955}" "" "p.Leu157*" "" "Unknown" "" "" "0" "" "" "g.94103115A>T" "" "pathogenic (recessive)" ""
"0000766277" "0" "70" "1" "94520705" "94520705" "subst" "0" "01695" "ABCA4_000714" "g.94520705T>C" "" "{PMID:Birtel 2018:29555955}" "" "p.Tyr850Cys" "" "Unknown" "" "" "0" "" "" "g.94055149T>C" "" "likely pathogenic (recessive)" ""
"0000766278" "2" "70" "1" "94495072" "94495072" "subst" "0" "01695" "ABCA4_001422" "g.94495072A>G" "" "{PMID:Birtel 2018:29555955}" "" "p.Cys1490Arg" "" "Unknown" "" "" "0" "" "" "g.94029516A>G" "" "likely pathogenic (recessive)" ""
"0000766279" "0" "70" "1" "94486960" "94486960" "subst" "0" "01695" "ABCA4_001421" "g.94486960C>A" "" "{PMID:Birtel 2018:29555955}" "" "p.Trp1618Cys" "" "Unknown" "" "" "0" "" "" "g.94021404C>A" "" "likely pathogenic (recessive)" ""
"0000766280" "1" "70" "1" "94546261" "94546261" "subst" "0.000648567" "01695" "ABCA4_000353" "g.94546261G>A" "" "{PMID:Birtel 2018:29555955}" "" "p.Pro291Leu" "" "Unknown" "" "" "0" "" "" "g.94080705G>A" "" "likely pathogenic (recessive)" ""
"0000766281" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Birtel 2018:29555955}" "" "p.Gly863Ala" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000766282" "1" "90" "1" "94517216" "94517216" "subst" "0" "01695" "ABCA4_001429" "g.94517216G>A" "" "{PMID:Birtel 2018:29555955}" "" "p.Gln876*" "" "Unknown" "" "" "0" "" "" "g.94051660G>A" "" "pathogenic (recessive)" ""
"0000766283" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Birtel 2018:29555955}" "" "p.Gly863Ala" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000766284" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Birtel 2018:29555955}" "" "p.(?)" "" "Unknown" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000766285" "0" "90" "1" "94485136" "94485136" "subst" "0" "01695" "ABCA4_000189" "g.94485136A>G" "" "{PMID:Birtel 2018:29555955}" "" "p.(?)" "" "Unknown" "" "" "0" "" "" "g.94019580A>G" "" "pathogenic (recessive)" ""
"0000766286" "0" "70" "1" "94577082" "94577082" "subst" "2.84315E-5" "01695" "ABCA4_000232" "g.94577082C>T" "" "{PMID:Birtel 2018:29555955}" "" "p.Gly72Arg" "" "Unknown" "" "" "0" "" "" "g.94111526C>T" "" "likely pathogenic (recessive)" ""
"0000766287" "0" "70" "1" "94522284" "94522284" "subst" "0" "01695" "ABCA4_001431" "g.94522284C>T" "" "{PMID:Birtel 2018:29555955}" "" "p.Ser752Asn" "" "Unknown" "" "" "0" "" "" "g.94056728C>T" "" "likely pathogenic (recessive)" ""
"0000766288" "0" "90" "1" "94497591" "94497591" "subst" "0" "01695" "ABCA4_000587" "g.94497591G>A" "" "{PMID:Birtel 2018:29555955}" "" "p.Gln1291*" "" "Unknown" "" "" "0" "" "" "g.94032035G>A" "" "pathogenic (recessive)" ""
"0000766289" "0" "70" "1" "94546261" "94546261" "subst" "0.000648567" "01695" "ABCA4_000353" "g.94546261G>A" "" "{PMID:Birtel 2018:29555955}" "" "p.Pro291Leu" "" "Unknown" "" "" "0" "" "" "g.94080705G>A" "" "likely pathogenic (recessive)" ""
"0000766290" "0" "70" "1" "94467481" "94467481" "subst" "0" "01695" "ABCA4_001417" "g.94467481C>T" "" "{PMID:Birtel 2018:29555955}" "" "p.Ser2072Asn" "" "Unknown" "" "" "0" "" "" "g.94001925C>T" "" "likely pathogenic (recessive)" ""
"0000766291" "0" "70" "1" "94467481" "94467481" "subst" "0" "01695" "ABCA4_001417" "g.94467481C>T" "" "{PMID:Birtel 2018:29555955}" "" "p.Ser2072Asn" "" "Unknown" "" "" "0" "" "" "g.94001925C>T" "" "likely pathogenic (recessive)" ""
"0000766292" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Birtel 2018:29555955}" "" "p.Leu541Pro" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000766293" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Birtel 2018:29555955}" "" "p.Leu541Pro" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000766294" "0" "70" "1" "94487399" "94487399" "subst" "7.30959E-5" "01695" "ABCA4_000038" "g.94487399T>C" "" "{PMID:Birtel 2018:29555955}" "" "p.(?)" "" "Unknown" "" "" "0" "" "" "g.94021843T>C" "" "likely pathogenic (recessive)" ""
"0000766295" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Birtel 2018:29555955}" "" "p.Leu541Pro" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000766296" "0" "90" "1" "94522194" "94522194" "subst" "0" "01695" "ABCA4_000733" "g.94522194C>T" "" "{PMID:Sodi 2016:26743751}" "" "(p.Trp782*)" "" "Unknown" "" "" "0" "" "" "g.94056638C>T" "" "pathogenic (recessive)" ""
"0000766297" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sodi 2016:26743751}" "" "(p.Gly1961Glu)" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000766298" "0" "70" "1" "94512505" "94512505" "subst" "0" "01695" "ABCA4_001981" "g.94512505C>A" "" "{PMID:Sodi 2016:26743751}" "" "(p.Gly963Val)" "" "Unknown" "" "" "0" "" "" "g.94046949C>A" "" "likely pathogenic (recessive)" ""
"0000766299" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sodi 2016:26743751}" "" "(p.Gly1961Glu)" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000766300" "1" "90" "1" "94528714" "94528714" "subst" "0" "01695" "ABCA4_000296" "g.94528714G>A" "" "{PMID:Sodi 2016:26743751}" "" "(p.Arg572*)" "" "Unknown" "" "" "0" "" "" "g.94063158G>A" "" "pathogenic (recessive)" ""
"0000766301" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sodi 2016:26743751}" "" "(p.Gly1961Glu)" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000766302" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sodi 2016:26743751}" "" "(p.Gly1961Glu)" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000766303" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sodi 2016:26743751}" "" "(p.Gly1961Glu)" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000766304" "0" "90" "1" "94485137" "94485137" "subst" "0" "01695" "ABCA4_000464" "g.94485137C>T" "" "{PMID:Sodi 2016:26743751}" "" "c.5196+1G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94019581C>T" "" "pathogenic (recessive)" ""
"0000766305" "0" "70" "1" "94520793" "94520793" "subst" "8.13292E-6" "01695" "ABCA4_000723" "g.94520793A>T" "" "{PMID:Sodi 2016:26743751}" "" "(p.Trp821Arg)" "" "Unknown" "" "" "0" "" "" "g.94055237A>T" "" "likely pathogenic (recessive)" ""
"0000766306" "0" "90" "1" "94488941" "94488941" "subst" "4.09836E-6" "01695" "ABCA4_000127" "g.94488941C>T" "" "{PMID:Sodi 2016:26743751}" "" "c.4667+1G>A" "" "Unknown" "" "" "0" "" "" "g.94023385C>T" "" "pathogenic (recessive)" ""
"0000766307" "0" "70" "1" "94577010" "94577010" "subst" "1.22004E-5" "01695" "ABCA4_000224" "g.94577010T>C" "" "{PMID:Sodi 2016:26743751}" "" "(p.Asn96Asp)" "" "Unknown" "" "" "0" "" "" "g.94111454T>C" "" "likely pathogenic (recessive)" ""
"0000766308" "0" "90" "1" "94463610" "94463610" "del" "0" "01695" "ABCA4_001571" "g.94463610del" "" "{PMID:Sodi 2016:26743751}" "" "(p.Pro2180Leufs*3)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.93998054del" "" "pathogenic (recessive)" ""
"0000766309" "0" "50" "1" "94512602" "94512602" "subst" "0.000369717" "01695" "ABCA4_000052" "g.94512602C>T" "" "{PMID:Sodi 2016:26743751}" "" "(p.Val931Met)" "" "Unknown" "" "" "0" "" "" "g.94047046C>T" "" "VUS" ""
"0000766310" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sodi 2016:26743751}" "" "(p.Gly1961Glu)" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000766311" "0" "90" "1" "94488941" "94488941" "subst" "4.09836E-6" "01695" "ABCA4_000127" "g.94488941C>T" "" "{PMID:Sodi 2016:26743751}" "" "p.(?)" "" "Unknown" "" "" "0" "" "" "g.94023385C>T" "" "pathogenic (recessive)" ""
"0000766312" "0" "70" "1" "94520793" "94520793" "subst" "8.13292E-6" "01695" "ABCA4_000723" "g.94520793A>T" "" "{PMID:Sodi 2016:26743751}" "" "(p.Trp821Arg)" "" "Unknown" "" "" "0" "" "" "g.94055237A>T" "" "likely pathogenic (recessive)" ""
"0000766313" "0" "90" "1" "94528714" "94528714" "subst" "0" "01695" "ABCA4_000296" "g.94528714G>A" "" "{PMID:Sodi 2016:26743751}" "" "(p.Arg572*)" "" "Unknown" "" "" "0" "" "" "g.94063158G>A" "" "pathogenic (recessive)" ""
"0000766314" "0" "70" "1" "94486895" "94486895" "subst" "3.24923E-5" "01695" "ABCA4_000484" "g.94486895C>T" "" "{PMID:Sodi 2016:26743751}" "" "(p.Arg1640Glu)" "" "Unknown" "" "" "0" "" "" "g.94021339C>T" "" "likely pathogenic (recessive)" ""
"0000766315" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Sodi 2016:26743751}" "" "(p.Val256Val)" "" "Unknown" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000766316" "0" "90" "1" "94495983" "94495983" "subst" "8.12348E-6" "01695" "ABCA4_000547" "g.94495983C>T" "" "{PMID:Sodi 2016:26743751}" "" "c.4352+1G>A" "" "Unknown" "" "" "0" "" "" "g.94030427C>T" "" "pathogenic (recessive)" ""
"0000766317" "1" "70" "1" "94577008" "94577008" "subst" "0" "01695" "ABCA4_000223" "g.94577008G>T" "" "{PMID:Sodi 2016:26743751}" "" "(p.Asn96Lys)" "" "Unknown" "" "" "0" "" "" "g.94111452G>T" "" "likely pathogenic (recessive)" ""
"0000766318" "1" "70" "1" "94577008" "94577008" "subst" "0" "01695" "ABCA4_000223" "g.94577008G>T" "" "{PMID:Sodi 2016:26743751}" "" "(p.Asn96Lys)" "" "Unknown" "" "" "0" "" "" "g.94111452G>T" "" "likely pathogenic (recessive)" ""
"0000766319" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sodi 2016:26743751}" "" "(p.Gly1961Glu)" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000766320" "0" "70" "1" "94520793" "94520793" "subst" "8.13292E-6" "01695" "ABCA4_000723" "g.94520793A>T" "" "{PMID:Sodi 2016:26743751}" "" "(p.Trp821Arg)" "" "Unknown" "" "" "0" "" "" "g.94055237A>T" "" "likely pathogenic (recessive)" ""
"0000766321" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Sodi 2016:26743751}" "" "(p.Leu541Pro)" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000766322" "0" "90" "1" "94564549" "94564549" "subst" "0" "01695" "ABCA4_000199" "g.94564549T>A" "" "{PMID:Sodi 2016:26743751}" "" "c.571-2A>T" "" "Unknown" "" "" "0" "" "" "g.94098993T>A" "" "pathogenic (recessive)" ""
"0000766323" "0" "90" "1" "94486794" "94486794" "subst" "0" "01695" "ABCA4_000478" "g.94486794A>G" "" "{PMID:Sodi 2016:26743751}" "" "c.5018+2T>C" "" "Unknown" "" "" "0" "" "" "g.94021238A>G" "" "pathogenic (recessive)" ""
"0000766324" "0" "90" "1" "94486794" "94486794" "subst" "0" "01695" "ABCA4_000478" "g.94486794A>G" "" "{PMID:Sodi 2016:26743751}" "" "c.5018+2T>C" "" "Unknown" "" "" "0" "" "" "g.94021238A>G" "" "pathogenic (recessive)" ""
"0000766325" "0" "70" "1" "94512506" "94512506" "subst" "0" "01695" "ABCA4_001982" "g.94512506C>G" "" "{PMID:Sodi 2016:26743751}" "" "(p.Gly963Arg)" "" "Unknown" "" "" "0" "" "" "g.94046950C>G" "" "likely pathogenic (recessive)" ""
"0000766326" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Sodi 2016:26743751}" "" "c.5714+5G>A" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000766327" "3" "90" "1" "94564549" "94564549" "subst" "0" "01695" "ABCA4_000199" "g.94564549T>A" "" "{PMID:Sodi 2016:26743751}" "" "c.571-2A>T" "" "Unknown" "" "" "0" "" "" "g.94098993T>A" "" "pathogenic (recessive)" ""
"0000766328" "21" "90" "1" "94492937" "94492937" "subst" "0" "01695" "ABCA4_000529" "g.94492937G>A" "" "{PMID:Nassisi 2019:31614660}" "" "p.[=,Arg1514Leufs*36]" "" "Unknown" "yes" "" "0" "" "" "g.94027381G>A" "" "pathogenic (recessive)" ""
"0000766329" "11" "90" "1" "94544158" "94544158" "del" "0" "01695" "ABCA4_000315" "g.94544158del" "" "{PMID:Nassisi 2019:31614660}" "" "p.(Ile449Metfs*3)" "" "Unknown" "yes" "" "0" "" "" "g.94078602del" "" "pathogenic (recessive)" ""
"0000766330" "0" "70" "1" "94484001" "94484001" "subst" "0" "01695" "ABCA4_000016" "g.94484001C>T" "" "{PMID:Nassisi 2019:31614660}" "" "p.[=,Met1733Glufs*78]" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94018445C>T" "" "likely pathogenic (recessive)" ""
"0000766331" "10" "70" "1" "94496509" "94496509" "subst" "0.00475243" "01695" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Nassisi 2019:31614660}" "" "p.[=,Ile1377Hisfs*3]" "" "Unknown" "yes" "" "0" "" "" "g.94030953C>T" "" "likely pathogenic (recessive)" ""
"0000766332" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Nassisi 2019:31614660}" "" "p.(Pro1380Leu)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000766333" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Nassisi 2019:31614660}" "" "p.(Pro1380Leu)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000766334" "0" "90" "1" "94492937" "94492937" "subst" "0" "01695" "ABCA4_000529" "g.94492937G>A" "" "{PMID:Nassisi 2019:31614660}" "" "p.[=,Arg1514Leufs*36]" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94027381G>A" "" "pathogenic (recessive)" ""
"0000766335" "0" "90" "1" "94492937" "94492937" "subst" "0" "01695" "ABCA4_000529" "g.94492937G>A" "" "{PMID:Nassisi 2019:31614660}" "" "p.[=,Arg1514Leufs*36]" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94027381G>A" "" "pathogenic (recessive)" ""
"0000766336" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Nassisi 2019:31614660}" "" "p.(Arg1108Cys)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000766337" "0" "70" "1" "94496509" "94496509" "subst" "0.00475243" "01695" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Nassisi 2019:31614660}" "" "p.[=,Ile1377Hisfs*3]" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94030953C>T" "" "likely pathogenic (recessive)" ""
"0000766338" "11" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Nassisi 2019:31614660}" "" "p.(Arg602Trp)" "" "Unknown" "yes" "" "0" "" "" "g.94062710G>A" "" "pathogenic (recessive)" ""
"0000766339" "0" "70" "1" "94564430" "94564430" "subst" "0" "01695" "ABCA4_002182" "g.94564430A>C" "" "{PMID:Nassisi 2019:31614660}" "" "p.(Cys230Gly)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94098874A>C" "" "likely pathogenic (recessive)" ""
"0000766340" "21" "70" "1" "94564432" "94564432" "subst" "0" "01695" "ABCA4_001029" "g.94564432A>G" "" "{PMID:Nassisi 2019:31614660}" "" "p.(Leu229Pro)" "" "Unknown" "yes" "" "0" "" "" "g.94098876A>G" "" "likely pathogenic (recessive)" ""
"0000766341" "0" "70" "1" "94496509" "94496509" "subst" "0.00475243" "01695" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Nassisi 2019:31614660}" "" "p.[=,Ile1377Hisfs*3]" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94030953C>T" "" "likely pathogenic (recessive)" ""
"0000766342" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Nassisi 2019:31614660}" "" "p.(Arg602Trp)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94062710G>A" "" "pathogenic (recessive)" ""
"0000766343" "0" "50" "1" "94563842" "94563842" "subst" "0" "01695" "ABCA4_002168" "g.94563842T>C" "" "{PMID:Nassisi 2019:31614660}" "" "c.768+508A>G" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94098286T>C" "" "VUS" ""
"0000766344" "0" "50" "1" "94546517" "94546519" "delins" "0" "01695" "ABCA4_002157" "g.94546517_94546519delinsTCA" "" "{PMID:Nassisi 2019:31614660}" "" "c.768+508A>G" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94080961_94080963delinsTCA" "" "VUS" ""
"0000766345" "21" "90" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Souied 1999:10458172}" "" "Arg212Cys" "" "Unknown" "yes" "" "0" "" "" "g.94098928G>A" "" "pathogenic (recessive)" ""
"0000766346" "21" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Souied 1999:10458172}" "" "Arg1107Cys" "" "Unknown" "yes" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000766347" "21" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Souied 1999:10458172}" "" "Arg1107Cys" "" "Unknown" "yes" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000766348" "21" "90" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Souied 1999:10458172}" "" "Arg212Cys" "" "Unknown" "yes" "" "0" "" "" "g.94098928G>A" "" "pathogenic (recessive)" ""
"0000766349" "0" "50" "1" "94463425" "94463425" "subst" "0.000109787" "01695" "ABCA4_000853" "g.94463425G>C" "" "{PMID:Scholl 2001:11328755}" "" "L2241V" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.93997869G>C" "" "VUS" ""
"0000766350" "0" "90" "1" "94526265" "94526265" "subst" "0" "01695" "ABCA4_000143" "g.94526265C>T" "" "{PMID:Scholl 2001:11328755}" "" "W663X" "" "Unknown" "" "" "0" "" "" "g.94060709C>T" "" "pathogenic (recessive)" ""
"0000766351" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Scholl 2001:11328755}" "" "G1961E" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000766352" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Scholl 2001:11328755}" "" "G768T/splice" "" "Unknown" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000766353" "0" "70" "1" "94564430" "94564430" "subst" "0" "01695" "ABCA4_000376" "g.94564430A>T" "" "{PMID:Scholl 2001:11328755}" "" "C230S" "" "Unknown" "" "" "0" "" "" "g.94098874A>T" "" "likely pathogenic (recessive)" ""
"0000766354" "0" "50" "1" "94476378" "94476378" "subst" "0.000499679" "01695" "ABCA4_000412" "g.94476378G>A" "" "{PMID:Scholl 2001:11328755}" "" "R1898H" "" "Unknown" "" "" "0" "" "" "g.94010822G>A" "" "VUS" ""
"0000766355" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Scholl 2001:11328755}" "" "L541P+A1038V" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000766356" "0" "90" "1" "94528251" "94528251" "subst" "2.84824E-5" "01695" "ABCA4_000281" "g.94528251C>T" "" "{PMID:Scholl 2001:11328755}" "" "G607R" "" "Unknown" "" "" "0" "" "" "g.94062695C>T" "" "pathogenic (recessive)" ""
"0000766357" "0" "70" "1" "94577118" "94577118" "subst" "0" "01695" "ABCA4_000185" "g.94577118C>T" "" "{PMID:Scholl 2001:11328755}" "" "A60T" "" "Unknown" "" "" "0" "" "" "g.94111562C>T" "" "likely pathogenic (recessive)" ""
"0000766358" "0" "50" "1" "94543389" "94543389" "subst" "0.000861235" "01695" "ABCA4_000312" "g.94543389C>T" "" "{PMID:Scholl 2001:11328755}" "" "E471K" "" "Unknown" "" "" "0" "" "" "g.94077833C>T" "" "VUS" ""
"0000766359" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Scholl 2001:11328755}" "" "G863A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000766360" "0" "50" "1" "94476378" "94476378" "subst" "0.000499679" "01695" "ABCA4_000412" "g.94476378G>A" "" "{PMID:Scholl 2001:11328755}" "" "R1898H" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94010822G>A" "" "VUS" ""
"0000766361" "0" "70" "1" "94577093" "94577093" "subst" "8.12394E-6" "01695" "ABCA4_000147" "g.94577093G>A" "" "{PMID:Scholl 2001:11328755}; {PMID:Reinhard 2007:17562343}" "" "P68L" "" "Unknown" "" "" "0" "" "" "g.94111537G>A" "" "likely pathogenic (recessive)" ""
"0000766362" "0" "50" "1" "94496610" "94496610" "subst" "2.03128E-5" "01695" "ABCA4_000571" "g.94496610C>T" "" "{PMID:Scholl 2001:11328755}" "" "E1399K" "" "Unknown" "" "" "0" "" "" "g.94031054C>T" "" "VUS" ""
"0000766363" "0" "70" "1" "94496018" "94496018" "subst" "0" "01695" "ABCA4_001002" "g.94496018A>C" "" "{PMID:Scholl 2001:11328755}" "" "F1440V" "" "Unknown" "" "" "0" "" "" "g.94030462A>C" "" "likely pathogenic (recessive)" ""
"0000766364" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Scholl 2001:11328755}" "" "G1961E" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000766365" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Scholl 2001:11328755}" "" "A1038V" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000766366" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Scholl 2001:11328755}" "" "L541P+A1038V" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000766367" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Scholl 2001:11328755}" "" "G863A" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000766368" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Scholl 2001:11328755}" "" "R1108C" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000766369" "0" "50" "1" "94496610" "94496610" "subst" "2.03128E-5" "01695" "ABCA4_000571" "g.94496610C>T" "" "{PMID:Scholl 2001:11328755}{PMID:Reinhard 2007:17562343}" "" "E1399K" "" "Unknown" "" "" "0" "" "" "g.94031054C>T" "" "VUS" ""
"0000766370" "0" "70" "1" "94481319" "94481319" "subst" "0" "01695" "ABCA4_000454" "g.94481319A>G" "" "{PMID:Scholl 2001:11328755}" "" "L1763P" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94015763A>G" "" "likely pathogenic (recessive)" ""
"0000766371" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Scholl 2001:11328755}" "" "R1108C" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000766372" "0" "90" "1" "94526212" "94526212" "subst" "1.22012E-5" "01695" "ABCA4_000075" "g.94526212G>A" "" "{PMID:Scholl 2001:11328755}" "" "R681X" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94060656G>A" "" "pathogenic (recessive)" ""
"0000766373" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Scholl 2001:11328755}" "" "L541P+A1038V" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000766374" "0" "90" "1" "94496571" "94496571" "subst" "4.06174E-6" "01695" "ABCA4_000111" "g.94496571G>A" "" "{PMID:Scholl 2001:11328755}" "" "Q1412X" "" "Unknown" "" "" "0" "" "" "g.94031015G>A" "" "pathogenic (recessive)" ""
"0000766375" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Scholl 2001:11328755}" "" "G768T/splice" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000766376" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Scholl 2001:11328755}" "" "G863A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000766377" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Scholl 2001:11328755}{PMID:Scholl 2001:11372548}" "" "G863A" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000766378" "1" "90" "1" "94528713" "94528713" "subst" "4.87381E-5" "01695" "ABCA4_000072" "g.94528713C>T" "" "{PMID:Scholl 2001:11328755}" "" "R572Q+G863A" "" "Unknown" "" "" "0" "" "" "g.94063157C>T" "" "pathogenic (recessive)" ""
"0000766379" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Scholl 2001:11328755}" "" "G863A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000766380" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Scholl 2001:11328755}" "" "L541P+A1038V" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000766381" "0" "70" "1" "94564378" "94564378" "subst" "8.12222E-6" "01695" "ABCA4_000367" "g.94564378T>C" "" "{PMID:Scholl 2001:11328755}" "" "N247S" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94098822T>C" "" "likely pathogenic (recessive)" ""
"0000766382" "0" "90" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Scholl 2001:11328755}" "" "R212C" "" "Unknown" "" "" "0" "" "" "g.94098928G>A" "" "pathogenic (recessive)" ""
"0000766383" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Scholl 2001:11328755}" "" "A1038V" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000766384" "0" "90" "1" "94496571" "94496571" "subst" "4.06174E-6" "01695" "ABCA4_000111" "g.94496571G>A" "" "{PMID:Scholl 2001:11328755}" "" "Q1412X" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94031015G>A" "" "pathogenic (recessive)" ""
"0000766385" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Scholl 2001:11328755}{PMID:Reinhard 2007:17562343}" "" "G863A" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000766386" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Scholl 2001:11328755}{PMID:Reinhard 2007:17562343}" "" "G863A" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000766387" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Scholl 2001:11372548}" "" "G863A" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000766388" "0" "70" "1" "94506902" "94506902" "subst" "1.21834E-5" "01695" "ABCA4_000623" "g.94506902G>A" "" "{PMID:Shroyer 2001:11384574}" "" "" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94041346G>A" "" "likely pathogenic (recessive)" ""
"0000766389" "3" "90" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Shroyer 2001:11384574}" "" "" "" "Unknown" "" "" "0" "" "" "g.94001068C>T" "" "pathogenic (recessive)" ""
"0000766390" "3" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Eksandh 2001:11594993}" "" "" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000766391" "3" "70" "1" "94512478" "94512478" "subst" "3.65871E-5" "01695" "ABCA4_000678" "g.94512478G>T" "" "{PMID:Eksandh 2001:11594993}" "" "" "" "Unknown" "" "" "0" "" "" "g.94046922G>T" "" "likely pathogenic (recessive)" ""
"0000766392" "3" "70" "1" "94473845" "94473846" "inv" "0" "01695" "ABCA4_000403" "g.94473845_94473846inv" "" "{PMID:Eksandh 2001:11594993}" "" "5843CA>TG" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008289_94008290inv" "" "likely pathogenic (recessive)" ""
"0000766393" "3" "70" "1" "94473845" "94473846" "inv" "0" "01695" "ABCA4_000403" "g.94473845_94473846inv" "" "{PMID:Eksandh 2001:11594993}" "" "5843CA>TG" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008289_94008290inv" "" "likely pathogenic (recessive)" ""
"0000766394" "0" "90" "1" "0" "0" "" "0" "01695" "NPHS2_000000" "g.?" "" "{PMID:Oh 2004:15579991}" "" "11-basepair deletion in exon 38" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000766395" "0" "50" "1" "94480108" "94480108" "subst" "0" "01695" "ABCA4_000439" "g.94480108C>A" "" "{PMID:Oh 2004:15579991}" "" "Asp1817Glu" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94014552C>A" "" "VUS" ""
"0000766396" "0" "50" "1" "94476377" "94476377" "subst" "0.00160473" "01695" "ABCA4_000411" "g.94476377C>T" "" "{PMID:Oh 2004:15579991}" "" "Arg1898His" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94010821C>T" "" "VUS" ""
"0000766397" "0" "70" "1" "94466422" "94466422" "subst" "2.43651E-5" "01695" "ABCA4_000817" "g.94466422C>T" "" "{PMID:Oh 2004:15579991}" "" "Cys2150Tyr" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94000866C>T" "" "likely pathogenic (recessive)" ""
"0000766398" "0" "90" "1" "94485137" "94485137" "subst" "0" "01695" "ABCA4_000464" "g.94485137C>T" "" "{PMID:Wiszniewski 2005:16103129}" "" "36 IVS+1G >A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94019581C>T" "" "pathogenic (recessive)" ""
"0000766399" "3" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Wiszniewski 2005:16103129}" "" "[L541P; A1038V]" "" "Unknown" "yes" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000766400" "3" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Wiszniewski 2005:16103129}" "" "[L541P; A1038V]" "" "Unknown" "yes" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000766401" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Wiszniewski 2005:16103129}" "" "G1961E" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000766402" "10" "90" "1" "94544895" "94544895" "subst" "1.62455E-5" "01695" "ABCA4_000329" "g.94544895G>A" "" "{PMID:Wiszniewski 2005:16103129}" "" "R408X" "" "Unknown" "yes" "" "0" "" "" "g.94079339G>A" "" "pathogenic (recessive)" ""
"0000766403" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Wiszniewski 2005:16103129}" "" "[L541P;A1038V]" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000766404" "3" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Wiszniewski 2005:16103129}" "" "[L541P;A1038V]" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000766405" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Wiszniewski 2005:16103129}" "" "[L541P;A1038V]" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000766406" "3" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Wiszniewski 2005:16103129}" "" "R602W" "" "Unknown" "" "" "0" "" "" "g.94062710G>A" "" "pathogenic (recessive)" ""
"0000766407" "3" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Wiszniewski 2005:16103129}" "" "[L541P;A1038V]" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000766408" "3" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "" "{PMID:Wiszniewski 2005:16103129}" "" "C1490Y" "" "Unknown" "" "" "0" "" "" "g.94029515C>T" "" "likely pathogenic (recessive)" ""
"0000766409" "0" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "" "{PMID:Wiszniewski 2005:16103129}" "" "C1490Y" "" "Unknown" "" "" "0" "" "" "g.94029515C>T" "" "likely pathogenic (recessive)" ""
"0000766410" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Wiszniewski 2005:16103129}" "" "[L541P;A1038V]" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000766411" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Wiszniewski 2005:16103129}" "" "[L541P;A1038V]" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000766412" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Wiszniewski 2005:16103129}" "" "[L541P;A1038V]" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000766413" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Wiszniewski 2005:16103129}" "" "[L541P;A1038V]" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000766414" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Wiszniewski 2005:16103129}" "" "[L541P;A1038V]" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000766415" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Wiszniewski 2005:16103129}" "" "[L541P;A1038V]" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000766416" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Wiszniewski 2005:16103129}" "" "[L541P;A1038V]" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000766417" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Wiszniewski 2005:16103129}" "" "[L541P;A1038V]" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000766418" "0" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "" "{PMID:Wiszniewski 2005:16103129}" "" "C1490Y" "" "Unknown" "" "" "0" "" "" "g.94029515C>T" "" "likely pathogenic (recessive)" ""
"0000766419" "0" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "" "{PMID:Wiszniewski 2005:16103129}" "" "C1490Y" "" "Unknown" "" "" "0" "" "" "g.94029515C>T" "" "likely pathogenic (recessive)" ""
"0000766420" "0" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "" "{PMID:Wiszniewski 2005:16103129}" "" "C1490Y" "" "Unknown" "" "" "0" "" "" "g.94029515C>T" "" "likely pathogenic (recessive)" ""
"0000766421" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Wiszniewski 2005:16103129}" "" "R602W" "" "Unknown" "" "" "0" "" "" "g.94062710G>A" "" "pathogenic (recessive)" ""
"0000766422" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Wiszniewski 2005:16103129}" "" "[L541P;A1038V]" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000766423" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Hargitai 2005:16303926}" "" "L541P/A1038V" "" "Unknown" "yes" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000766424" "3" "90" "1" "94473278" "94473278" "del" "3.25908E-5" "01695" "ABCA4_000392" "g.94473278del" "" "{PMID:Hargitai 2005:16303926}" "" "5917delG" "" "Unknown" "yes" "" "0" "" "" "g.94007722del" "" "pathogenic (recessive)" ""
"0000766425" "0" "50" "1" "94467548" "94467548" "subst" "0.00295661" "01695" "ABCA4_000788" "g.94467548C>G" "" "{PMID:Hargitai 2005:16303926}" "" "V2050L" "no variant 2nd chromosome" "Unknown" "yes" "" "0" "" "" "g.94001992C>G" "" "VUS" ""
"0000766426" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Hargitai 2005:16303926}" "" "IVS40+5G>A" "no variant 2nd chromosome" "Unknown" "yes" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000766427" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Hargitai 2005:16303926}" "" "L541P/A1038V" "" "Unknown" "yes" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000766428" "1" "90" "1" "94578583" "94578583" "del" "0" "01695" "ABCA4_000248" "g.94578583del" "" "{PMID:Hargitai 2005:16303926}" "" "106delT" "" "Unknown" "yes" "" "0" "" "" "g.94113027del" "" "pathogenic (recessive)" ""
"0000766429" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Hargitai 2005:16303926}" "" "L541P/A1038V" "" "Unknown" "yes" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000766430" "1" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Hargitai 2005:16303926}" "" "IVS40+5G>A" "" "Unknown" "yes" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000766431" "1" "70" "1" "94476413" "94476413" "subst" "0" "01695" "ABCA4_000415" "g.94476413C>T" "" "{PMID:Hargitai 2005:16303926}" "" "G1886E" "" "Unknown" "yes" "" "0" "" "" "g.94010857C>T" "" "likely pathogenic (recessive)" ""
"0000766432" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Hargitai 2005:16303926}" "" "G1961E" "no variant 2nd chromosome" "Unknown" "yes" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000766433" "1" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Hargitai 2005:16303926}" "" "IVS40+5G>A" "" "Unknown" "yes" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000766434" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Hargitai 2005:16303926}" "" "L541P/A1038V" "" "Unknown" "yes" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000766435" "3" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Hargitai 2005:16303926}" "" "L541P" "" "Unknown" "yes" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000766436" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Hargitai 2005:16303926}" "" "L541P/A1038V" "" "Unknown" "yes" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000766437" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Hargitai 2005:16303926}" "" "L541P/A1038V" "" "Unknown" "yes" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000766438" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Hargitai 2005:16303926}" "" "G1961E" "no variant 2nd chromosome" "Unknown" "yes" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000766439" "0" "70" "1" "94577093" "94577093" "subst" "8.12394E-6" "01695" "ABCA4_000147" "g.94577093G>A" "" "{PMID:Hargitai 2005:16303926}" "" "P68L" "" "Unknown" "yes" "" "0" "" "" "g.94111537G>A" "" "likely pathogenic (recessive)" ""
"0000766440" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Hargitai 2005:16303926}" "" "L541P/A1038V" "" "Unknown" "yes" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000766441" "1" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Hargitai 2005:16303926}" "" "IVS40>5G>A" "" "Unknown" "yes" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000766442" "3" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Hargitai 2005:16303926}" "" "R1108C" "" "Unknown" "yes" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000766443" "1" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Hargitai 2005:16303926}" "" "G1961E" "no variant 2nd chromosome" "Unknown" "yes" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000766444" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Hargitai 2005:16303926}" "" "L541P/A1038V" "" "Unknown" "yes" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000766445" "3" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Hargitai 2005:16303926}" "" "IVS40>5G>A" "" "Unknown" "yes" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000766446" "11" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Fingert 2006:16682602}" "" "P1380L" "confirmed uniparental isodisomy" "Uniparental disomy" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000766447" "11" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Sodi 2006:16703556}" "" "R1108C (CGC->TGC)" "" "Unknown" "yes" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000766448" "1" "90" "1" "94480098" "94480098" "subst" "0" "01695" "ABCA4_000437" "g.94480098C>T" "" "{PMID:Ducroq 2006:16896346}" "" "c.5460+1G>A" "" "Germline" "yes" "" "0" "" "" "g.94014542C>T" "" "pathogenic (recessive)" ""
"0000766449" "1" "90" "1" "94480098" "94480098" "subst" "0" "01695" "ABCA4_000437" "g.94480098C>T" "" "{PMID:Ducroq 2006:16896346}" "" "c.5460+1G>A" "" "Germline" "yes" "" "0" "" "" "g.94014542C>T" "" "pathogenic (recessive)" ""
"0000766450" "3" "90" "1" "94480098" "94480098" "subst" "0" "01695" "ABCA4_000437" "g.94480098C>T" "" "{PMID:Ducroq 2006:16896346}" "" "c.5460+1G>A" "" "Germline" "yes" "" "0" "" "" "g.94014542C>T" "" "pathogenic (recessive)" ""
"0000766451" "3" "90" "1" "94480098" "94480098" "subst" "0" "01695" "ABCA4_000437" "g.94480098C>T" "" "{PMID:Ducroq 2006:16896346}" "" "c.5460+1G>A" "" "Germline" "yes" "" "0" "" "" "g.94014542C>T" "" "pathogenic (recessive)" ""
"0000766452" "21" "90" "1" "94480098" "94480098" "subst" "0" "01695" "ABCA4_000437" "g.94480098C>T" "" "{PMID:Ducroq 2006:16896346}" "" "c.5460+1G>A" "" "Germline" "yes" "" "0" "" "" "g.94014542C>T" "" "pathogenic (recessive)" ""
"0000766453" "11" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Ducroq 2006:16896346}" "" "p.G1961E" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000766454" "3" "90" "1" "94480098" "94480098" "subst" "0" "01695" "ABCA4_000437" "g.94480098C>T" "" "{PMID:Ducroq 2006:16896346}" "" "c.5460+1G>A" "" "Germline" "yes" "" "0" "" "" "g.94014542C>T" "" "pathogenic (recessive)" ""
"0000766455" "3" "90" "1" "94480098" "94480098" "subst" "0" "01695" "ABCA4_000437" "g.94480098C>T" "" "{PMID:Ducroq 2006:16896346}" "" "c.5460+1G>A" "" "Germline" "yes" "" "0" "" "" "g.94014542C>T" "" "pathogenic (recessive)" ""
"0000766456" "11" "90" "1" "94480098" "94480098" "subst" "0" "01695" "ABCA4_000437" "g.94480098C>T" "" "{PMID:Ducroq 2006:16896346}" "" "c.5460+1G>A" "" "Germline" "yes" "" "0" "" "" "g.94014542C>T" "" "pathogenic (recessive)" ""
"0000766457" "11" "90" "1" "94480098" "94480098" "subst" "0" "01695" "ABCA4_000437" "g.94480098C>T" "" "{PMID:Ducroq 2006:16896346}" "" "c.5460+1G>A" "" "Germline" "yes" "" "0" "" "" "g.94014542C>T" "" "pathogenic (recessive)" ""
"0000766458" "0" "90" "1" "94487440" "94487440" "del" "0" "01695" "ABCA4_000499" "g.94487440del" "" "{PMID:Riveiro-Alvarez 2006:17128450}" "" "GGGTTT^TtA AGC" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.94021884del" "" "pathogenic (recessive)" ""
"0000766459" "0" "70" "1" "94577132" "94577132" "subst" "0" "01695" "ABCA4_001545" "g.94577132T>G" "" "{PMID:Downs 2007:17296903}" "" "164A?C H55P" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94111576T>G" "" "likely pathogenic (recessive)" ""
"0000766460" "0" "70" "1" "94564508" "94564508" "subst" "2.46494E-5" "01695" "ABCA4_000355" "g.94564508C>T" "" "{PMID:Downs 2007:17296903}" "" "611G?A A204T" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94098952C>T" "" "likely pathogenic (recessive)" ""
"0000766461" "0" "50" "1" "94546265" "94546265" "subst" "2.04063E-5" "01695" "ABCA4_000355" "g.94546265G>A" "" "{PMID:Downs 2007:17296903}" "" "868C?T R290W" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94080709G>A" "" "VUS" ""
"0000766462" "0" "50" "1" "94528729" "94528729" "subst" "0.000255885" "01695" "ABCA4_000297" "g.94528729C>T" "" "{PMID:Downs 2007:17296903}" "" "1699G?A V567M" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94063173C>T" "" "VUS" ""
"0000766463" "0" "70" "1" "94528702" "94528702" "subst" "1.62468E-5" "01695" "ABCA4_000293" "g.94528702C>G" "" "{PMID:Downs 2007:17296903}" "" "1726G?C D576H" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94063146C>G" "" "likely pathogenic (recessive)" ""
"0000766464" "0" "70" "1" "94528253" "94528253" "subst" "8.13729E-6" "01695" "ABCA4_000767" "g.94528253C>T" "" "{PMID:Downs 2007:17296903}" "" "1817G?A G606A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94062697C>T" "" "likely pathogenic (recessive)" ""
"0000766465" "0" "50" "1" "94526289" "94526289" "subst" "0.000417202" "01695" "ABCA4_000767" "g.94526289A>C" "" "{PMID:Downs 2007:17296903}" "" "1964T?G L725I" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94060733A>C" "" "VUS" ""
"0000766466" "0" "70" "1" "94522366" "94522366" "subst" "0" "01695" "ABCA4_001542" "g.94522366G>T" "" "{PMID:Downs 2007:17296903}" "" "2173C?A F655C" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94056810G>T" "" "likely pathogenic (recessive)" ""
"0000766467" "0" "70" "1" "94522242" "94522242" "subst" "0" "01695" "ABCA4_001541" "g.94522242C>T" "" "{PMID:Downs 2007:17296903}" "" "2297G?A G766D" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94056686C>T" "" "likely pathogenic (recessive)" ""
"0000766468" "0" "70" "1" "94520869" "94520869" "subst" "0" "01695" "ABCA4_000729" "g.94520869G>C" "" "{PMID:Downs 2007:17296903}" "" "2385C?G S795R" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94055313G>C" "" "likely pathogenic (recessive)" ""
"0000766469" "0" "50" "1" "94520853" "94520853" "subst" "8.14783E-6" "01695" "ABCA4_000729" "g.94520853C>T" "" "{PMID:Downs 2007:17296903}" "" "2401G? A A801T" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94055297C>T" "" "VUS" ""
"0000766470" "0" "70" "1" "94509006" "94509006" "subst" "3.65717E-5" "01695" "ABCA4_001538" "g.94509006A>G" "" "{PMID:Downs 2007:17296903}" "" "3076T?C F1026L" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94043450A>G" "" "likely pathogenic (recessive)" ""
"0000766471" "0" "70" "1" "94508944" "94508944" "subst" "0" "01695" "ABCA4_001948" "g.94508944C>A" "" "{PMID:Downs 2007:17296903}" "" "3138T?G L1046W" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94043388C>A" "" "likely pathogenic (recessive)" ""
"0000766472" "0" "70" "1" "94508948" "94508948" "subst" "4.06336E-6" "01695" "ABCA4_001949" "g.94508948A>G" "" "{PMID:Downs 2007:17296903}" "" "3414T?C L1138P" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94043392A>G" "" "likely pathogenic (recessive)" ""
"0000766473" "0" "50" "1" "94496080" "94496080" "subst" "0.000982813" "01695" "ABCA4_000558" "g.94496080A>G" "" "{PMID:Downs 2007:17296903}" "" "4256T?C M1419T" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94030524A>G" "" "VUS" ""
"0000766474" "0" "70" "1" "94495005" "94495005" "subst" "3.95137E-5" "01695" "ABCA4_000907" "g.94495005G>T" "" "{PMID:Downs 2007:17296903}" "" "4535C?A P1512H" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94029449G>T" "" "likely pathogenic (recessive)" ""
"0000766475" "0" "70" "1" "94486965" "94486965" "subst" "0" "01695" "ABCA4_001063" "g.94486965C>T" "" "{PMID:Downs 2007:17296903}" "" "4849G?A V1617M" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94021409C>T" "" "likely pathogenic (recessive)" ""
"0000766476" "0" "70" "1" "94486944" "94486944" "subst" "0" "01695" "ABCA4_000039" "g.94486944A>C" "" "{PMID:Downs 2007:17296903}" "" "4870T?G W1624G" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94021388A>C" "" "likely pathogenic (recessive)" ""
"0000766477" "0" "70" "1" "94485308" "94485308" "subst" "0" "01695" "ABCA4_001534" "g.94485308T>G" "" "{PMID:Downs 2007:17296903}" "" "5026A?C T1676P" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94019752T>G" "" "likely pathogenic (recessive)" ""
"0000766478" "0" "70" "1" "94481413" "94481413" "subst" "0" "01695" "ABCA4_001533" "g.94481413C>G" "" "{PMID:Downs 2007:17296903}" "" "IVS36 ? 3G? C Splice site change" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94015857C>G" "" "likely pathogenic (recessive)" ""
"0000766479" "0" "70" "1" "94476370" "94476370" "subst" "0" "01695" "ABCA4_001531" "g.94476370G>T" "" "{PMID:Downs 2007:17296903}" "" "5701C?A F1900L" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94010814G>T" "" "likely pathogenic (recessive)" ""
"0000766480" "0" "70" "1" "94473804" "94473804" "subst" "0" "01695" "ABCA4_000854" "g.94473804A>T" "" "{PMID:Downs 2007:17296903}" "" "5885T?A V1962D" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008248A>T" "" "likely pathogenic (recessive)" ""
"0000766481" "0" "50" "1" "94463428" "94463428" "subst" "1.62621E-5" "01695" "ABCA4_000854" "g.94463428T>C" "" "{PMID:Downs 2007:17296903}" "" "6718A?G T2240A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.93997872T>C" "" "VUS" ""
"0000766482" "0" "90" "1" "94473790" "94473790" "subst" "0" "01695" "ABCA4_000400" "g.94473790C>A" "" "{PMID:Downs 2007:17296903}" "" "IVS42+1G?A Intronic change" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008234C>A" "" "pathogenic (recessive)" ""
"0000766483" "0" "90" "1" "94497519" "94497519" "subst" "0" "01695" "ABCA4_000585" "g.94497519G>A" "" "{PMID:Riveiro-Alvarez 2006:17297691}" "" "Codon 1315 cCAG-TAG Gln-Ter" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94031963G>A" "" "pathogenic (recessive)" ""
"0000766484" "0" "70" "1" "94473808" "94473808" "subst" "8.52861E-5" "01695" "ABCA4_000196" "g.94473808C>T" "" "{PMID:Riveiro-Alvarez 2006:17297692}" "" "Codon 1961 cGGA-AGA Gly-Arg" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008252C>T" "" "likely pathogenic (recessive)" ""
"0000766485" "0" "90" "1" "94463587" "94463587" "subst" "0" "01695" "ABCA4_000136" "g.94463587G>A" "" "{PMID:Riveiro-Alvarez 2006:17297693}" "" "Codon 2187 gCAG-TAG Gln-Ter" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.93998031G>A" "" "pathogenic (recessive)" ""
"0000766486" "0" "90" "1" "94506960" "94506960" "subst" "0" "01695" "ABCA4_000629" "g.94506960T>C" "" "{PMID:Riveiro-Alvarez 2006:17297718}" "" "Intron 22 Donor -2 A-T" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94041404T>C" "" "pathogenic (recessive)" ""
"0000766487" "1" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Aleman 2007:17325179}" "" "G863A" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000766488" "0" "90" "1" "94508386" "94508386" "subst" "1.62443E-5" "01695" "ABCA4_000642" "g.94508386C>T" "" "{PMID:Aleman 2007:17325179}" "" "E1087K" "" "Unknown" "" "" "0" "" "" "g.94042830C>T" "" "pathogenic (recessive)" ""
"0000766489" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Aleman 2007:17325179}{PMID:Cideciyan 2007:17429493}" "" "R1129L" "" "Unknown" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000766490" "0" "90" "1" "94495009" "94495009" "del" "0" "01695" "ABCA4_000534" "g.94495009del" "" "{PMID:Aleman 2007:17325179}" "" "P1511del1ccgC" "" "Unknown" "" "" "0" "" "" "g.94029453del" "" "pathogenic (recessive)" ""
"0000766491" "0" "90" "1" "94509026" "94509026" "subst" "4.06497E-5" "01695" "ABCA4_000660" "g.94509026G>A" "" "{PMID:Aleman 2007:17325179}{PMID:Cideciyan 2007:17429493}" "" "T1019M" "" "Unknown" "" "" "0" "" "" "g.94043470G>A" "" "pathogenic (recessive)" ""
"0000766492" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Aleman 2007:17325179}" "" "R1108C" "" "Unknown" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000766493" "0" "50" "1" "94512589" "94512589" "subst" "4.06184E-6" "01695" "ABCA4_000696" "g.94512589A>G" "" "{PMID:Aleman 2007:17325179}{PMID:Cideciyan 2007:17429493}" "" "V935A" "" "Unknown" "" "" "0" "" "" "g.94047033A>G" "" "VUS" ""
"0000766494" "0" "90" "1" "94526212" "94526212" "subst" "1.22012E-5" "01695" "ABCA4_000075" "g.94526212G>A" "" "{PMID:Aleman 2007:17325179}" "" "R681X" "" "Unknown" "" "" "0" "" "" "g.94060656G>A" "" "pathogenic (recessive)" ""
"0000766495" "0" "70" "1" "94577135" "94577135" "subst" "2.43718E-5" "01695" "ABCA4_000240" "g.94577135C>T" "" "{PMID:Aleman 2007:17325179}" "" "C54Y" "" "Unknown" "" "" "0" "" "" "g.94111579C>T" "" "likely pathogenic (recessive)" ""
"0000766496" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Aleman 2007:17325179}{PMID:Cideciyan 2007:17429493}" "" "V256V" "" "Unknown" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000766497" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Aleman 2007:17325179}{PMID:Cideciyan 2007:17429493}" "" "V256V" "" "Unknown" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000766498" "0" "10" "1" "94497563" "94497563" "subst" "0.00492504" "01695" "ABCA4_000090" "g.94497563C>T" "" "{PMID:Aleman 2007:17325179}" "" "R1300Q" "" "Unknown" "" "" "0" "" "" "g.94032007C>T" "" "benign" ""
"0000766499" "0" "70" "1" "94473266" "94473266" "subst" "8.14677E-6" "01695" "ABCA4_000389" "g.94473266C>T" "" "{PMID:Aleman 2007:17325179}" "" "G1977S" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94007710C>T" "" "likely pathogenic (recessive)" ""
"0000766500" "0" "90" "1" "94568687" "94568687" "subst" "1.62641E-5" "01695" "ABCA4_000024" "g.94568687G>A" "" "{PMID:Cideciyan 2007:17429493}" "" "R152X" "" "Unknown" "" "" "0" "" "" "g.94103131G>A" "" "pathogenic (recessive)" ""
"0000766501" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Reinhard 2007:17562343}" "" "L2241V" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000766502" "0" "90" "1" "94526265" "94526265" "subst" "0" "01695" "ABCA4_000143" "g.94526265C>T" "" "{PMID:Reinhard 2007:17562343}" "" "W663X" "" "Unknown" "" "" "0" "" "" "g.94060709C>T" "" "pathogenic (recessive)" ""
"0000766503" "0" "50" "1" "94476377" "94476377" "subst" "0.00160473" "01695" "ABCA4_000411" "g.94476377C>T" "" "{PMID:Reinhard 2007:17562343}" "" "R1898H" "" "Unknown" "" "" "0" "" "" "g.94010821C>T" "" "VUS" ""
"0000766504" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Reinhard 2007:17562343}" "" "L541P+A1038V" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000766505" "0" "50" "1" "94543389" "94543389" "subst" "0.000861235" "01695" "ABCA4_000312" "g.94543389C>T" "" "{PMID:Reinhard 2007:17562343}" "" "E471K" "" "Unknown" "" "" "0" "" "" "g.94077833C>T" "" "VUS" ""
"0000766506" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Reinhard 2007:17562343}" "" "G863A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000766507" "0" "70" "1" "94577093" "94577093" "subst" "8.12394E-6" "01695" "ABCA4_000147" "g.94577093G>A" "" "{PMID:Reinhard 2007:17562343}" "" "P68L" "" "Unknown" "" "" "0" "" "" "g.94111537G>A" "" "likely pathogenic (recessive)" ""
"0000766508" "0" "50" "1" "94496610" "94496610" "subst" "2.03128E-5" "01695" "ABCA4_000571" "g.94496610C>T" "" "{PMID:Reinhard 2007:17562343}" "" "E1399K" "" "Unknown" "" "" "0" "" "" "g.94031054C>T" "" "VUS" ""
"0000766509" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Reinhard 2007:17562343}" "" "G1961E" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000766510" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Reinhard 2007:17562343}" "" "A1038V" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000766511" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Reinhard 2007:17562343}" "" "L541P+A1038V" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000766512" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Reinhard 2007:17562343}" "" "R1108C" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000766513" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Reinhard 2007:17562343}" "" "R1108C" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000766514" "0" "90" "1" "94526212" "94526212" "subst" "1.22012E-5" "01695" "ABCA4_000075" "g.94526212G>A" "" "{PMID:Reinhard 2007:17562343}" "" "R681X" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94060656G>A" "" "pathogenic (recessive)" ""
"0000766515" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Reinhard 2007:17562343}" "" "G768T/splice" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000766516" "3" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Reinhard 2007:17562343}" "" "G1961E" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000766517" "0" "90" "1" "94564418" "94564418" "subst" "0" "01695" "ABCA4_000375" "g.94564418G>A" "" "{PMID:Aguirre-Lambán 2007:17879441}" "" "Codon 234 cCAG–TAG Gln–Stop" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94098862G>A" "" "pathogenic (recessive)" ""
"0000766518" "0" "50" "1" "94496039" "94496039" "subst" "0.00157963" "01695" "ABCA4_000552" "g.94496039C>T" "" "{PMID:Stenirri 2007:17932850}" "" "V1433I (4297G>A)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94030483C>T" "" "VUS" ""
"0000766519" "0" "70" "1" "94485275" "94485275" "subst" "4.09068E-5" "01695" "ABCA4_001089" "g.94485275T>A" "" "{PMID:Stenirri 2007:17932850}" "" "I1687F (5059A>T)" "" "Unknown" "" "" "0" "" "" "g.94019719T>A" "" "likely pathogenic (recessive)" ""
"0000766520" "0" "50" "1" "94473287" "94473287" "subst" "0.00293818" "01695" "ABCA4_000395" "g.94473287G>A" "" "{PMID:Stenirri 2007:17932850}" "" "L1970F (5908C>T)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94007731G>A" "" "VUS" ""
"0000766521" "0" "50" "1" "94568675" "94568675" "subst" "0.00146249" "01695" "ABCA4_000210" "g.94568675T>C" "" "{PMID:Stenirri 2007:17932850}" "" "I156V (466A>G)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94103119T>C" "" "VUS" ""
"0000766522" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Stenirri 2007:17932850}" "" "G863A (G2588C)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000766523" "0" "90" "1" "94564447" "94564447" "del" "0" "01695" "ABCA4_000138" "g.94564447del" "" "{PMID:Stenirri 2007:17932850}" "" "C671del" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94098891del" "" "pathogenic (recessive)" ""
"0000766524" "0" "70" "1" "94495083" "94495083" "subst" "0.000124542" "01695" "ABCA4_000542" "g.94495083G>A" "" "{PMID:Stenirri 2007:17932850}" "" "P1486L (4457C>T)" "" "Unknown" "" "" "0" "" "" "g.94029527G>A" "" "likely pathogenic (recessive)" ""
"0000766525" "0" "90" "1" "94564447" "94564447" "del" "0" "01695" "ABCA4_000138" "g.94564447del" "" "{PMID:Cremonesi 2003:12815600}" "" "671delC on ex 6" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94098891del" "" "pathogenic (recessive)" ""
"0000766526" "0" "90" "1" "94543442" "94543443" "del" "0" "01695" "ABCA4_002123" "g.94543442_94543443del" "" "{PMID:Cremonesi 2003:12815600}" "" "1357_1358delTT on ex 11" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94077886_94077887del" "" "pathogenic (recessive)" ""
"0000766527" "11" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Bini 2007:17997789}" "" "L541P (CTA > CCA)" "" "Unknown" "yes" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000766528" "0" "90" "1" "94546104" "94546104" "dup" "0" "01695" "ABCA4_000339" "g.94546104dup" "" "{PMID:Aguirre-Lambán 2007:18380025}" "" "codon 343 insertion TGAAGAC^AATtAACTATAAGG" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94080548dup" "" "pathogenic (recessive)" ""
"0000766529" "0" "90" "1" "94564418" "94564418" "subst" "0" "01695" "ABCA4_000375" "g.94564418G>A" "" "{PMID:Aguirre-Lambán 2007:18386363}" "" "codon 234 cCAG-TAG Gln-Term" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94098862G>A" "" "pathogenic (recessive)" ""
"0000766530" "0" "90" "1" "94586600" "94586600" "subst" "0" "01695" "ABCA4_000263" "g.94586600A>G" "" "{PMID:Maia-Lopes 2008:18386365}" "" "Codon 1 ATG-ACG Met-Thr" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94121044A>G" "" "pathogenic (recessive)" ""
"0000766531" "0" "90" "1" "94574175" "94574175" "subst" "0" "01695" "ABCA4_000214" "g.94574175G>A" "" "{PMID:Maia-Lopes 2008:18386369}" "" "Codon 134 cCAA-TAA Gln-Term" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94108619G>A" "" "pathogenic (recessive)" ""
"0000766532" "0" "70" "1" "94486959" "94486959" "subst" "0" "01695" "ABCA4_001285" "g.94486959A>G" "" "{PMID:Aguirre-Lambán 2008:18846660}" "" "Codon 1619 gTTT-CTT Phe-Leu" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94021403A>G" "" "likely pathogenic (recessive)" ""
"0000766533" "0" "70" "1" "94512532" "94512532" "subst" "0" "01695" "ABCA4_000691" "g.94512532T>G" "" "{PMID:Aguirre-Lambán 2008:18846675}" "" "Codon 954 TAC-TCC Tyr-Ser" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94046976T>G" "" "likely pathogenic (recessive)" ""
"0000766534" "0" "50" "1" "94502888" "94502888" "subst" "0.00310941" "01695" "ABCA4_000603" "g.94502888A>G" "" "{PMID:Aguirre-Lambán 2008:18846678}" "" "Codon 1209 ATG-ACG Met-Thr" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94037332A>G" "" "VUS" ""
"0000766535" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Hwang 2008:18854780}" "" "P1380L" "" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000766536" "3" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Hwang 2008:18854780}" "" "P1380L" "" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000766537" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Hwang 2008:18854780}" "" "P1380L" "" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000766538" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Hwang 2008:18854780}" "" "P1380L" "" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000766539" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Hwang 2008:18854780}" "" "IVS40 + 5G>A," "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000766540" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Hwang 2008:18854780}" "" "IVS40 + 5G>A," "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000766541" "0" "70" "1" "94508322" "94508322" "subst" "1.62513E-5" "01695" "ABCA4_000128" "g.94508322C>T" "" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "Arg1108His" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94042766C>T" "" "likely pathogenic (recessive)" ""
"0000766542" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "Arg1129Leu" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000766543" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "Arg1129Leu" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000766544" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "Arg1129Leu" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000766545" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "Arg1129Leu" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000766546" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "Arg1129Leu" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000766547" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "Arg1129Leu" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000766548" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "Arg1129Leu" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000766549" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "Arg1129Leu" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000766550" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "Arg1129Leu" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000766551" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "Arg1129Leu" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000766552" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "Arg1129Leu" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000766553" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "Arg1129Leu" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000766554" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "Arg1129Leu" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000766555" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "Arg1129Leu" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000766556" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "Arg1129Leu" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000766557" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "Arg1129Leu" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000766558" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "Arg1129Leu" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000766559" "1" "50" "1" "94568686" "94568686" "subst" "0.00258122" "01695" "ABCA4_000212" "g.94568686C>T" "" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "Arg152Gln, Arg1108Cys, Arg2107His" "" "Unknown" "" "" "0" "" "" "g.94103130C>T" "" "VUS" ""
"0000766560" "1" "50" "1" "94568686" "94568686" "subst" "0.00258122" "01695" "ABCA4_000212" "g.94568686C>T" "" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "Arg152Gln, Arg1108Cys, Arg2107His" "" "Unknown" "" "" "0" "" "" "g.94103130C>T" "" "VUS" ""
"0000766561" "1" "50" "1" "94568686" "94568686" "subst" "0.00258122" "01695" "ABCA4_000212" "g.94568686C>T" "" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "Arg152Gln, Arg1108Cys, Arg2107His" "" "Unknown" "" "" "0" "" "" "g.94103130C>T" "" "VUS" ""
"0000766562" "1" "50" "1" "94568686" "94568686" "subst" "0.00258122" "01695" "ABCA4_000212" "g.94568686C>T" "" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "Arg152Gln, Arg1108Cys, Arg2107His" "" "Unknown" "" "" "0" "" "" "g.94103130C>T" "" "VUS" ""
"0000766563" "1" "50" "1" "94568686" "94568686" "subst" "0.00258122" "01695" "ABCA4_000212" "g.94568686C>T" "" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "Arg152Gln, Arg1108Cys, Arg2107His" "" "Unknown" "" "" "0" "" "" "g.94103130C>T" "" "VUS" ""
"0000766564" "1" "50" "1" "94568686" "94568686" "subst" "0.00258122" "01695" "ABCA4_000212" "g.94568686C>T" "" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "Arg152Gln, Arg1108Cys, Arg2107His" "" "Unknown" "" "" "0" "" "" "g.94103130C>T" "" "VUS" ""
"0000766565" "0" "90" "1" "94568687" "94568687" "subst" "1.62641E-5" "01695" "ABCA4_000024" "g.94568687G>A" "" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "Arg152Ter" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94103131G>A" "" "pathogenic (recessive)" ""
"0000766566" "0" "70" "1" "94486895" "94486895" "subst" "3.24923E-5" "01695" "ABCA4_000484" "g.94486895C>T" "" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "Arg1640Gln" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94021339C>T" "" "likely pathogenic (recessive)" ""
"0000766567" "0" "70" "1" "94486896" "94486896" "subst" "3.65562E-5" "01695" "ABCA4_000085" "g.94486896G>A" "" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "Arg1640Trp" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94021340G>A" "" "likely pathogenic (recessive)" ""
"0000766568" "0" "90" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "Arg2107His" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94001068C>T" "" "pathogenic (recessive)" ""
"0000766569" "0" "70" "1" "94466624" "94466624" "subst" "0" "01695" "ABCA4_000838" "g.94466624C>G" "" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "Arg2107Pro" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94001068C>G" "" "likely pathogenic (recessive)" ""
"0000766570" "0" "70" "1" "94466624" "94466624" "subst" "0" "01695" "ABCA4_000838" "g.94466624C>G" "" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "Arg2107Pro" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94001068C>G" "" "likely pathogenic (recessive)" ""
"0000766571" "0" "70" "1" "94466624" "94466624" "subst" "0" "01695" "ABCA4_000838" "g.94466624C>G" "" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "Arg2107Pro" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94001068C>G" "" "likely pathogenic (recessive)" ""
"0000766572" "0" "90" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "Arg212Cys" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94098928G>A" "" "pathogenic (recessive)" ""
"0000766573" "0" "90" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "Arg212Cys" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94098928G>A" "" "pathogenic (recessive)" ""
"0000766574" "0" "90" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "Arg212Cys" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94098928G>A" "" "pathogenic (recessive)" ""
"0000766575" "0" "90" "1" "94544895" "94544895" "subst" "1.62455E-5" "01695" "ABCA4_000329" "g.94544895G>A" "" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "Arg408Ter" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94079339G>A" "" "pathogenic (recessive)" ""
"0000766576" "0" "50" "1" "94528713" "94528713" "subst" "0" "01695" "ABCA4_000295" "g.94528713C>G" "" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "Arg572Pro" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94063157C>G" "" "VUS" ""
"0000766577" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "Arg602Trp" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94062710G>A" "" "pathogenic (recessive)" ""
"0000766578" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "Arg602Trp" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94062710G>A" "" "pathogenic (recessive)" ""
"0000766579" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "Arg602Trp" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94062710G>A" "" "pathogenic (recessive)" ""
"0000766580" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "Arg602Trp" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94062710G>A" "" "pathogenic (recessive)" ""
"0000766581" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "Arg602Trp" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94062710G>A" "" "pathogenic (recessive)" ""
"0000766582" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "Arg602Trp" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94062710G>A" "" "pathogenic (recessive)" ""
"0000766583" "0" "90" "1" "94526296" "94526296" "subst" "1.64555E-5" "01695" "ABCA4_000768" "g.94526296G>A" "" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "ARg653Cys" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94060740G>A" "" "pathogenic (recessive)" ""
"0000766584" "0" "90" "1" "94526212" "94526212" "subst" "1.22012E-5" "01695" "ABCA4_000075" "g.94526212G>A" "" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "Arg681Ter" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94060656G>A" "" "pathogenic (recessive)" ""
"0000766585" "0" "50" "1" "94480164" "94480164" "subst" "0" "01695" "ABCA4_000440" "g.94480164T>C" "" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "Asn1799Asp" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94014608T>C" "" "VUS" ""
"0000766586" "0" "50" "1" "94544977" "94544977" "subst" "0.000544432" "01695" "ABCA4_000332" "g.94544977A>T" "" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "Asn380Lys" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94079421A>T" "" "VUS" ""
"0000766587" "0" "90" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "Asn965Ser" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94046943T>C" "" "pathogenic (recessive)" ""
"0000766588" "0" "90" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "Asn965Ser" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94046943T>C" "" "pathogenic (recessive)" ""
"0000766589" "0" "90" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "Asn965Ser" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94046943T>C" "" "pathogenic (recessive)" ""
"0000766590" "0" "90" "1" "94512507" "94512507" "del" "0" "01695" "ABCA4_000155" "g.94512507del" "" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "c.2888del" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94046951del" "" "pathogenic (recessive)" ""
"0000766591" "0" "90" "1" "94512507" "94512507" "del" "0" "01695" "ABCA4_000155" "g.94512507del" "" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "c.2888del" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94046951del" "" "pathogenic (recessive)" ""
"0000766592" "0" "90" "1" "94512507" "94512507" "del" "0" "01695" "ABCA4_000155" "g.94512507del" "" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "c.2888del" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94046951del" "" "pathogenic (recessive)" ""
"0000766593" "0" "90" "1" "94512507" "94512507" "del" "0" "01695" "ABCA4_000155" "g.94512507del" "" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "c.2888del" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94046951del" "" "pathogenic (recessive)" ""
"0000766594" "0" "90" "1" "94512507" "94512507" "del" "0" "01695" "ABCA4_000155" "g.94512507del" "" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "c.2888del" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94046951del" "" "pathogenic (recessive)" ""
"0000766595" "0" "90" "1" "94508435" "94508436" "dup" "0" "01695" "ABCA4_000998" "g.94508435_94508436dup" "" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "c.3211insGT" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94042879_94042880dup" "" "pathogenic (recessive)" ""
"0000766596" "0" "90" "1" "94508435" "94508436" "dup" "0" "01695" "ABCA4_000998" "g.94508435_94508436dup" "" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "c.3211insGT" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94042879_94042880dup" "" "pathogenic (recessive)" ""
"0000766597" "0" "90" "1" "94508435" "94508436" "dup" "0" "01695" "ABCA4_000998" "g.94508435_94508436dup" "" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "c.3211insGT" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94042879_94042880dup" "" "pathogenic (recessive)" ""
"0000766598" "0" "90" "1" "94508435" "94508436" "dup" "0" "01695" "ABCA4_000998" "g.94508435_94508436dup" "" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "c.3211insGT" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94042879_94042880dup" "" "pathogenic (recessive)" ""
"0000766599" "0" "90" "1" "94508435" "94508436" "dup" "0" "01695" "ABCA4_000998" "g.94508435_94508436dup" "" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "c.3211insGT" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94042879_94042880dup" "" "pathogenic (recessive)" ""
"0000766600" "0" "90" "1" "94508435" "94508436" "dup" "0" "01695" "ABCA4_000998" "g.94508435_94508436dup" "" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "c.3211insGT" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94042879_94042880dup" "" "pathogenic (recessive)" ""
"0000766601" "0" "90" "1" "94508435" "94508436" "dup" "0" "01695" "ABCA4_000998" "g.94508435_94508436dup" "" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "c.3211insGT" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94042879_94042880dup" "" "pathogenic (recessive)" ""
"0000766602" "0" "90" "1" "94508435" "94508436" "dup" "0" "01695" "ABCA4_000998" "g.94508435_94508436dup" "" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "c.3211insGT" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94042879_94042880dup" "" "pathogenic (recessive)" ""
"0000766603" "0" "90" "1" "94508435" "94508436" "dup" "0" "01695" "ABCA4_000998" "g.94508435_94508436dup" "" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "c.3211insGT" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94042879_94042880dup" "" "pathogenic (recessive)" ""
"0000766604" "0" "90" "1" "94495009" "94495009" "dup" "0" "01695" "ABCA4_000087" "g.94495009dup" "" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "c.4537insC" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94029453dup" "" "pathogenic (recessive)" ""
"0000766605" "0" "90" "1" "94495009" "94495009" "dup" "0" "01695" "ABCA4_000087" "g.94495009dup" "" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "c.4537insC" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94029453dup" "" "pathogenic (recessive)" ""
"0000766606" "0" "90" "1" "94495009" "94495009" "dup" "0" "01695" "ABCA4_000087" "g.94495009dup" "" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "c.4537insC" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94029453dup" "" "pathogenic (recessive)" ""
"0000766607" "1" "70" "1" "94485279" "94485293" "del" "0" "01695" "ABCA4_000476" "g.94485279_94485293del" "" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "c.5041del15; Ser1642Arg" "" "Unknown" "" "" "0" "" "" "g.94019723_94019737del" "" "likely pathogenic (recessive)" ""
"0000766608" "1" "70" "1" "94485279" "94485293" "del" "0" "01695" "ABCA4_000476" "g.94485279_94485293del" "" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "c.5041del15; Ser1642Arg" "" "Unknown" "" "" "0" "" "" "g.94019723_94019737del" "" "likely pathogenic (recessive)" ""
"0000766609" "1" "70" "1" "94485279" "94485293" "del" "0" "01695" "ABCA4_000476" "g.94485279_94485293del" "" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "c.5041del15; Ser1642Arg" "" "Unknown" "" "" "0" "" "" "g.94019723_94019737del" "" "likely pathogenic (recessive)" ""
"0000766610" "1" "70" "1" "94485279" "94485293" "del" "0" "01695" "ABCA4_000476" "g.94485279_94485293del" "" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "c.5041del15; Ser1642Arg" "" "Unknown" "" "" "0" "" "" "g.94019723_94019737del" "" "likely pathogenic (recessive)" ""
"0000766611" "1" "70" "1" "94485279" "94485293" "del" "0" "01695" "ABCA4_000476" "g.94485279_94485293del" "" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "c.5041del15; Ser1642Arg" "" "Unknown" "" "" "0" "" "" "g.94019723_94019737del" "" "likely pathogenic (recessive)" ""
"0000766612" "0" "90" "1" "94473278" "94473278" "del" "3.25908E-5" "01695" "ABCA4_000392" "g.94473278del" "" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "c.5917del" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94007722del" "" "pathogenic (recessive)" ""
"0000766613" "0" "90" "1" "94473278" "94473278" "del" "3.25908E-5" "01695" "ABCA4_000392" "g.94473278del" "" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "c.5917del" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94007722del" "" "pathogenic (recessive)" ""
"0000766614" "0" "90" "1" "94473278" "94473278" "del" "3.25908E-5" "01695" "ABCA4_000392" "g.94473278del" "" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "c.5917del" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94007722del" "" "pathogenic (recessive)" ""
"0000766615" "0" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "Cys1490Tyr" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94029515C>T" "" "likely pathogenic (recessive)" ""
"0000766616" "0" "70" "1" "94466422" "94466422" "subst" "2.43651E-5" "01695" "ABCA4_000817" "g.94466422C>T" "" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "Cys2150Tyr" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94000866C>T" "" "likely pathogenic (recessive)" ""
"0000766617" "0" "90" "1" "94546151" "94546151" "subst" "4.06855E-6" "01695" "ABCA4_000347" "g.94546151C>A" "" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "Glu328Ter" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94080595C>A" "" "pathogenic (recessive)" ""
"0000766618" "0" "50" "1" "94481365" "94481365" "subst" "4.06636E-5" "01695" "ABCA4_000457" "g.94481365C>T" "" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "Gly1748Arg" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94015809C>T" "" "VUS" ""
"0000766619" "0" "70" "1" "94473808" "94473808" "subst" "8.52861E-5" "01695" "ABCA4_000196" "g.94473808C>T" "" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "Gly1961Arg" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008252C>T" "" "likely pathogenic (recessive)" ""
"0000766620" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "Gly1961Glu" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000766621" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "Gly1961Glu" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000766622" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "Gly1961Glu" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000766623" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "Gly1961Glu" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000766624" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "Gly1961Glu" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000766625" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "Gly1961Glu" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000766626" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "Gly1961Glu" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000766627" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "Gly1961Glu" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000766628" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "Gly1961Glu" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000766629" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "Gly1961Glu" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000766630" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "Gly1961Glu" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000766631" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "Gly1961Glu" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000766632" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "Gly1961Glu" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000766633" "0" "70" "1" "94473266" "94473266" "subst" "8.14677E-6" "01695" "ABCA4_000389" "g.94473266C>T" "" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "Gly1977Ser" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94007710C>T" "" "likely pathogenic (recessive)" ""
"0000766634" "0" "70" "1" "94473266" "94473266" "subst" "8.14677E-6" "01695" "ABCA4_000389" "g.94473266C>T" "" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "Gly1977Ser" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94007710C>T" "" "likely pathogenic (recessive)" ""
"0000766635" "0" "70" "1" "94473266" "94473266" "subst" "8.14677E-6" "01695" "ABCA4_000389" "g.94473266C>T" "" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "Gly1977Ser" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94007710C>T" "" "likely pathogenic (recessive)" ""
"0000766636" "0" "70" "1" "94473266" "94473266" "subst" "8.14677E-6" "01695" "ABCA4_000389" "g.94473266C>T" "" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "Gly1977Ser" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94007710C>T" "" "likely pathogenic (recessive)" ""
"0000766637" "0" "70" "1" "94528780" "94528780" "subst" "4.06171E-6" "01695" "ABCA4_000299" "g.94528780C>T" "" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "Gly550Arg" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94063224C>T" "" "likely pathogenic (recessive)" ""
"0000766638" "0" "90" "1" "94528251" "94528251" "subst" "2.84824E-5" "01695" "ABCA4_000281" "g.94528251C>T" "" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "Gly607Arg" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94062695C>T" "" "pathogenic (recessive)" ""
"0000766639" "1" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "Gly863Ala; Arg943Gln" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000766640" "1" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "Gly863Alal Arg1055Trp" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000766641" "0" "50" "1" "94568675" "94568675" "subst" "0.00146249" "01695" "ABCA4_000210" "g.94568675T>C" "" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "Ile156Val" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94103119T>C" "" "VUS" ""
"0000766642" "0" "50" "1" "94476495" "94476495" "subst" "0" "01695" "ABCA4_000424" "g.94476495A>G" "" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "IVS39-10T>C" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94010939A>G" "" "VUS" ""
"0000766643" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "IVS40 +5 G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000766644" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "IVS40 +5 G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000766645" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "IVS40 +5 G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000766646" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "IVS40 +5 G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000766647" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "IVS40 +5 G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000766648" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "IVS40 +5 G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000766649" "0" "70" "1" "94474323" "94474323" "subst" "2.03034E-5" "01695" "ABCA4_000156" "g.94474323A>G" "" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "Leu1940Pro" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008767A>G" "" "likely pathogenic (recessive)" ""
"0000766650" "0" "70" "1" "94474323" "94474323" "subst" "2.03034E-5" "01695" "ABCA4_000156" "g.94474323A>G" "" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "Leu1940Pro" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008767A>G" "" "likely pathogenic (recessive)" ""
"0000766651" "0" "70" "1" "94474323" "94474323" "subst" "2.03034E-5" "01695" "ABCA4_000156" "g.94474323A>G" "" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "Leu1940Pro" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008767A>G" "" "likely pathogenic (recessive)" ""
"0000766652" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "Leu2027Phe" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic (recessive)" ""
"0000766653" "0" "70" "1" "94467517" "94467517" "subst" "0" "01695" "ABCA4_000786" "g.94467517A>C" "" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "Leu2060Arg" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94001961A>C" "" "likely pathogenic (recessive)" ""
"0000766654" "0" "70" "1" "94467517" "94467517" "subst" "0" "01695" "ABCA4_000786" "g.94467517A>C" "" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "Leu2060Arg" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94001961A>C" "" "likely pathogenic (recessive)" ""
"0000766655" "0" "70" "1" "94467517" "94467517" "subst" "0" "01695" "ABCA4_000786" "g.94467517A>C" "" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "Leu2060Arg" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94001961A>C" "" "likely pathogenic (recessive)" ""
"0000766656" "0" "70" "1" "94467517" "94467517" "subst" "0" "01695" "ABCA4_000786" "g.94467517A>C" "" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "Leu2060Arg" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94001961A>C" "" "likely pathogenic (recessive)" ""
"0000766657" "0" "70" "1" "94467517" "94467517" "subst" "0" "01695" "ABCA4_000786" "g.94467517A>C" "" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "Leu2060Arg" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94001961A>C" "" "likely pathogenic (recessive)" ""
"0000766658" "0" "50" "1" "94463425" "94463425" "subst" "0.000109787" "01695" "ABCA4_000853" "g.94463425G>C" "" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "Leu2241Val" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.93997869G>C" "" "VUS" ""
"0000766659" "0" "70" "1" "94476426" "94476426" "subst" "0" "01695" "ABCA4_000420" "g.94476426T>C" "" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "Met1882Val" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94010870T>C" "" "likely pathogenic (recessive)" ""
"0000766660" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "Pro1380Leu" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000766661" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "Pro1380Leu" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000766662" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "Pro1380Leu" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000766663" "0" "70" "1" "94495083" "94495083" "subst" "0.000124542" "01695" "ABCA4_000542" "g.94495083G>A" "" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "Pro1486Leu" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94029527G>A" "" "likely pathogenic (recessive)" ""
"0000766664" "0" "70" "1" "94495083" "94495083" "subst" "0.000124542" "01695" "ABCA4_000542" "g.94495083G>A" "" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "Pro1486Leu" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94029527G>A" "" "likely pathogenic (recessive)" ""
"0000766665" "0" "70" "1" "94495083" "94495083" "subst" "0.000124542" "01695" "ABCA4_000542" "g.94495083G>A" "" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "Pro1486Leu" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94029527G>A" "" "likely pathogenic (recessive)" ""
"0000766666" "0" "90" "1" "94509026" "94509026" "subst" "4.06497E-5" "01695" "ABCA4_000660" "g.94509026G>A" "" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "Thr1019Met" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94043470G>A" "" "pathogenic (recessive)" ""
"0000766667" "0" "90" "1" "94509026" "94509026" "subst" "4.06497E-5" "01695" "ABCA4_000660" "g.94509026G>A" "" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "Thr1019Met" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94043470G>A" "" "pathogenic (recessive)" ""
"0000766668" "0" "90" "1" "94509026" "94509026" "subst" "4.06497E-5" "01695" "ABCA4_000660" "g.94509026G>A" "" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "Thr1019Met" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94043470G>A" "" "pathogenic (recessive)" ""
"0000766669" "0" "90" "1" "94509026" "94509026" "subst" "4.06497E-5" "01695" "ABCA4_000660" "g.94509026G>A" "" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "Thr1019Met" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94043470G>A" "" "pathogenic (recessive)" ""
"0000766670" "0" "90" "1" "94509026" "94509026" "subst" "4.06497E-5" "01695" "ABCA4_000660" "g.94509026G>A" "" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "Thr1019Met" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94043470G>A" "" "pathogenic (recessive)" ""
"0000766671" "1" "50" "1" "94502756" "94502756" "subst" "0.000422575" "01695" "ABCA4_000032" "g.94502756G>A" "" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "Thr1253Met; Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94037200G>A" "" "VUS" ""
"0000766672" "0" "50" "1" "94502756" "94502756" "subst" "0.000422575" "01695" "ABCA4_000032" "g.94502756G>A" "" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "Thr1256Met" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94037200G>A" "" "VUS" ""
"0000766673" "0" "50" "1" "94514477" "94514477" "subst" "0.00118992" "01695" "ABCA4_000700" "g.94514477G>A" "" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "Thr897Ile" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94048921G>A" "" "VUS" ""
"0000766674" "0" "50" "1" "94514466" "94514466" "subst" "0.00192081" "01695" "ABCA4_000008" "g.94514466T>C" "" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "Thr901Ala" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94048910T>C" "" "VUS" ""
"0000766675" "0" "50" "1" "94496039" "94496039" "subst" "0.00157963" "01695" "ABCA4_000552" "g.94496039C>T" "" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "Val1433Ile" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94030483C>T" "" "VUS" ""
"0000766676" "0" "70" "1" "94522239" "94522239" "subst" "2.03305E-5" "01695" "ABCA4_000736" "g.94522239A>T" "" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "Val767Asp" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94056683A>T" "" "likely pathogenic (recessive)" ""
"0000766677" "0" "50" "1" "94512602" "94512602" "subst" "0.000369717" "01695" "ABCA4_000052" "g.94512602C>T" "" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "Val931Met" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94047046C>T" "" "VUS" ""
"0000766678" "0" "50" "1" "94512602" "94512602" "subst" "0.000369717" "01695" "ABCA4_000052" "g.94512602C>T" "" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "Val931Met" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94047046C>T" "" "VUS" ""
"0000766679" "0" "50" "1" "94512602" "94512602" "subst" "0.000369717" "01695" "ABCA4_000052" "g.94512602C>T" "" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "Val931Met" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94047046C>T" "" "VUS" ""
"0000766680" "0" "50" "1" "94512602" "94512602" "subst" "0.000369717" "01695" "ABCA4_000052" "g.94512602C>T" "" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "Val931Met" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94047046C>T" "" "VUS" ""
"0000766681" "0" "50" "1" "94512602" "94512602" "subst" "0.000369717" "01695" "ABCA4_000052" "g.94512602C>T" "" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "Val931Met" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94047046C>T" "" "VUS" ""
"0000766682" "1" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Aguirre-Lamban 2009:19028736}" "" "c.5882G>A (42) p.Gly1961Glu" "" "Unknown" "yes" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000766683" "1" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Aguirre-Lamban 2009:19028736}" "" "c.3386G>T (23) p.Arg1129Leu" "no variant 2nd chromosome" "Unknown" "yes" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000766684" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Aguirre-Lamban 2009:19028736}" "" "c.3386G>T (23) p.Arg1129Leu" "no variant 2nd chromosome; no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000766685" "0" "90" "1" "94508435" "94508436" "dup" "0" "01695" "ABCA4_000998" "g.94508435_94508436dup" "" "{PMID:Aguirre-Lamban 2009:19028736}" "" "c.3211insGT (22) FS" "no variant 2nd chromosome; no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94042879_94042880dup" "" "pathogenic (recessive)" ""
"0000766686" "0" "90" "1" "94508435" "94508436" "dup" "0" "01695" "ABCA4_000998" "g.94508435_94508436dup" "" "{PMID:Aguirre-Lamban 2009:19028736}" "" "c.3211insGT (22) FS" "no variant 2nd chromosome; no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94042879_94042880dup" "" "pathogenic (recessive)" ""
"0000766687" "1" "70" "1" "94487251" "94487251" "subst" "2.85679E-5" "01695" "ABCA4_000490" "g.94487251G>T" "" "{PMID:Aguirre-Lamban 2009:19028736}" "" "c.4793C>A (34) p.Ala1598Asp" "" "Unknown" "yes" "" "0" "" "" "g.94021695G>T" "" "likely pathogenic (recessive)" ""
"0000766688" "1" "90" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Aguirre-Lamban 2009:19028736}" "" "c.6320G>A (46) p.Arg2107His" "no variant 2nd chromosome" "Unknown" "yes" "" "0" "" "" "g.94001068C>T" "" "pathogenic (recessive)" ""
"0000766689" "0" "50" "1" "94512602" "94512602" "subst" "0.000369717" "01695" "ABCA4_000052" "g.94512602C>T" "" "{PMID:Aguirre-Lamban 2009:19028736}" "" "c.2791G>A (19) p.Val931Met" "no variant 2nd chromosome; no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94047046C>T" "" "VUS" ""
"0000766690" "0" "70" "1" "94486895" "94486895" "subst" "3.24923E-5" "01695" "ABCA4_000484" "g.94486895C>T" "" "{PMID:Aguirre-Lamban 2009:19028736}" "" "c.4919G>A (35) p.Arg1640Gln" "no variant 2nd chromosome; no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94021339C>T" "" "likely pathogenic (recessive)" ""
"0000766691" "0" "50" "1" "94496039" "94496039" "subst" "0.00157963" "01695" "ABCA4_000552" "g.94496039C>T" "" "{PMID:Aguirre-Lamban 2009:19028736}" "" "c.4297G>A (29) p.Val1433Ile" "no variant 2nd chromosome; no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94030483C>T" "" "VUS" ""
"0000766692" "1" "50" "1" "94514466" "94514466" "subst" "0.00192081" "01695" "ABCA4_000008" "g.94514466T>C" "" "{PMID:Aguirre-Lamban 2009:19028736}" "" "c.2701A>G (18) p.Thr901Ala" "no variant 2nd chromosome" "Unknown" "yes" "" "0" "" "" "g.94048910T>C" "" "VUS" ""
"0000766693" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Aguirre-Lamban 2009:19028736}" "" "c.33N86G>T (23) p.Arg1129Leu" "no variant 2nd chromosome; no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000766694" "1" "50" "1" "94568675" "94568675" "subst" "0.00146249" "01695" "ABCA4_000210" "g.94568675T>C" "" "{PMID:Aguirre-Lamban 2009:19028736}" "" "c.466A>G (5) p.Ile156Val" "no variant 2nd chromosome" "Unknown" "yes" "" "0" "" "" "g.94103119T>C" "" "VUS" ""
"0000766695" "0" "50" "1" "94496039" "94496039" "subst" "0.00157963" "01695" "ABCA4_000552" "g.94496039C>T" "" "{PMID:Aguirre-Lamban 2009:19028736}" "" "c.4297G>A (29) p.Val1433Ile" "no variant 2nd chromosome; no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94030483C>T" "" "VUS" ""
"0000766696" "0" "50" "1" "94480146" "94480146" "subst" "2.84273E-5" "01695" "ABCA4_000122" "g.94480146T>C" "" "{PMID:Kellner 2009:19243736}" "" "c.5413A>G (p.Asn1805Asp)" "" "Unknown" "" "" "0" "" "" "g.94014590T>C" "" "VUS" ""
"0000766697" "0" "50" "1" "94514477" "94514477" "subst" "0.00118992" "01695" "ABCA4_000700" "g.94514477G>A" "" "{PMID:Kellner 2009:19243736}" "" "c.2690C>T (p.Thr897Ile)," "" "Unknown" "" "" "0" "" "" "g.94048921G>A" "" "VUS" ""
"0000766698" "0" "50" "1" "94496039" "94496039" "subst" "0.00157963" "01695" "ABCA4_000552" "g.94496039C>T" "" "{PMID:Kellner 2009:19243736}" "" "c.4297G>A (p.Val1433Ile)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94030483C>T" "" "VUS" ""
"0000766699" "0" "70" "1" "94495078" "94495078" "subst" "8.37044E-6" "01695" "ABCA4_000042" "g.94495078A>G" "" "{PMID:Kellner 2009:19243736}" "" "c.4462T>C (p.Cys1488Arg)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94029522A>G" "" "likely pathogenic (recessive)" ""
"0000766700" "0" "90" "1" "94578567" "94578567" "subst" "4.06204E-6" "01695" "ABCA4_000247" "g.94578567C>T" "" "{PMID:Kellner 2009:19243736}" "" "c.122G>A (p.Trp41Ter)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94113011C>T" "" "pathogenic (recessive)" ""
"0000766701" "0" "90" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Kellner 2009:19243736}" "" "c.634C>T (p.Arg212Cys)," "" "Unknown" "" "" "0" "" "" "g.94098928G>A" "" "pathogenic (recessive)" ""
"0000766702" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Kellner 2009:19243736}" "" "c.1622T>C (p.Leu541Pro)/c.3113C>T (p.Ala1038Val)" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000766703" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Kellner 2009:19243736}" "" "c.1622T>C (p.Leu541Pro)/c.3113C>T (p.Ala1038Val)" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000766704" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Kellner 2009:19243736}" "" "c.768G>T (splice mutation)" "" "Unknown" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000766705" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Kellner 2009:19243736}" "" "c.1622T>C (p.Leu541Pro)" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000766706" "0" "70" "1" "94471055" "94471055" "subst" "0.00035346" "01695" "ABCA4_000029" "g.94471055C>T" "" "{PMID:Kellner 2009:19243736}" "" "c.6089G>A (p.Arg2030Gln)" "" "Unknown" "" "" "0" "" "" "g.94005499C>T" "" "likely pathogenic (recessive)" ""
"0000766707" "0" "70" "1" "94528819" "94528819" "subst" "2.03128E-5" "01695" "ABCA4_000078" "g.94528819G>A" "" "{PMID:Kellner 2009:19243736}" "" "c.1609C>T (p.Arg537Cys)" "" "Unknown" "" "" "0" "" "" "g.94063263G>A" "" "likely pathogenic (recessive)" ""
"0000766708" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Kellner 2009:19243736}" "" "c.768G>T (splice mutation)" "" "Unknown" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000766709" "0" "70" "1" "94528819" "94528819" "subst" "2.03128E-5" "01695" "ABCA4_000078" "g.94528819G>A" "" "{PMID:Kellner 2009:19243736}" "" "c.1609C>T (p.Arg537Cys)" "" "Unknown" "" "" "0" "" "" "g.94063263G>A" "" "likely pathogenic (recessive)" ""
"0000766710" "0" "50" "1" "94528142" "94528142" "subst" "0.00153303" "01695" "ABCA4_000125" "g.94528142A>C" "" "{PMID:Kellner 2009:19243736}" "" "c.1928T>G (p.Val643Gly)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94062586A>C" "" "VUS" ""
"0000766711" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Kellner 2009:19243736}" "" "c.3113C>T (p.Ala1038Val)" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000766712" "0" "50" "1" "94546096" "94546096" "subst" "4.06583E-6" "01695" "ABCA4_000337" "g.94546096T>G" "" "{PMID:Gomes 2009:19324865}" "" "K346T" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94080540T>G" "" "VUS" ""
"0000766713" "3" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Gomes 2009:19324865}" "" "G1961E" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000766714" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Gomes 2009:19324865}" "" "P1380L" "" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000766715" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Gomes 2009:19324865}" "" "L541P/A1038V" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000766716" "0" "70" "1" "94490550" "94490550" "subst" "0.000105588" "01695" "ABCA4_000523" "g.94490550C>T" "" "{PMID:Gomes 2009:19324865}" "" "D1532N," "" "Unknown" "" "" "0" "" "" "g.94024994C>T" "" "likely pathogenic (recessive)" ""
"0000766717" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Gomes 2009:19324865}" "" "G1961E" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000766718" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Gomes 2009:19324865}" "" "G1961E" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000766719" "3" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Gomes 2009:19324865}" "" "P1380L" "" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000766720" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Gomes 2009:19324865}" "" "L541P/A1038V" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000766721" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Gomes 2009:19324865}" "" "L541P/A1038V" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000766722" "3" "90" "1" "94520686" "94520693" "del" "0" "01695" "ABCA4_000708" "g.94520686_94520693del" "" "{PMID:Roberts 2009:19365039}" "" "2565delGTACCTTG" "" "Unknown" "" "" "0" "" "" "g.94055130_94055137del" "" "pathogenic (recessive)" ""
"0000766723" "11" "70" "1" "94496017" "94496017" "subst" "4.06075E-6" "01695" "ABCA4_000130" "g.94496017A>G" "" "{PMID:Roberts 2009:19365039}" "" "1440ser already known" "" "Unknown" "yes" "" "0" "" "" "g.94030461A>G" "" "likely pathogenic (recessive)" ""
"0000766724" "11" "90" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Roberts 2009:19365039}" "" "R2107H" "" "Unknown" "" "" "0" "" "" "g.94001068C>T" "" "pathogenic (recessive)" ""
"0000766725" "3" "10" "1" "94497563" "94497563" "subst" "0.00492504" "01695" "ABCA4_000090" "g.94497563C>T" "" "{PMID:Roberts 2009:19365039}" "" "R1300Q" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94032007C>T" "" "benign" ""
"0000766726" "11" "70" "1" "94486896" "94486896" "subst" "3.65562E-5" "01695" "ABCA4_000085" "g.94486896G>A" "" "{PMID:Roberts 2009:19365039}" "" "Het R1640W" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94021340G>A" "" "likely pathogenic (recessive)" ""
"0000766727" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Pasadhika 2009:19406377}" "" "IVS40+5G>A" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000766728" "0" "90" "1" "94546151" "94546151" "subst" "4.06855E-6" "01695" "ABCA4_000347" "g.94546151C>A" "" "{PMID:Pasadhika 2009:19406377}" "" "glu328stop exon 8" "" "Unknown" "" "" "0" "" "" "g.94080595C>A" "" "pathogenic (recessive)" ""
"0000766729" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Pasadhika 2009:19406377}" "" "ala1038val exon 21 leu541pro exon 12, heterozygous" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000766730" "1" "90" "1" "94510253" "94510253" "subst" "0.000247694" "01695" "ABCA4_000108" "g.94510253A>G" "" "{PMID:Pasadhika 2009:19406377}" "" "val989ala exon 20, heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94044697A>G" "" "pathogenic (recessive)" ""
"0000766731" "0" "50" "1" "94520733" "94520733" "subst" "4.06345E-6" "01695" "ABCA4_002022" "g.94520733G>T" "" "{PMID:Aguirre-Lambán 2009:19694024}" "" "Codon 841 gCAG-AAG Gln-Lys" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94055177G>T" "" "VUS" ""
"0000766732" "0" "70" "1" "94568581" "94568581" "subst" "3.65458E-5" "01695" "ABCA4_000202" "g.94568581C>T" "" "{PMID:Aguirre-Lambán 2009:19693992}" "" "Codon 187 CGT-CAT Arg-His" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94103025C>T" "" "likely pathogenic (recessive)" ""
"0000766733" "0" "70" "1" "94528836" "94528836" "subst" "6.50068E-5" "01695" "ABCA4_000079" "g.94528836T>C" "" "{PMID:Aguirre-Lambán 2010:20108396}" "" "Codon 531 GAA-GGA Glu-Gly" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94063280T>C" "" "likely pathogenic (recessive)" ""
"0000766734" "0" "70" "1" "94476853" "94476853" "subst" "4.06243E-6" "01695" "ABCA4_000429" "g.94476853A>G" "" "{PMID:Aguirre-Lambán 2010:20108432}" "" "Codon 1850 CTG-CCG Leu-Pro" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94011297A>G" "" "likely pathogenic (recessive)" ""
"0000766735" "0" "90" "1" "94486794" "94486794" "subst" "0" "01695" "ABCA4_000478" "g.94486794A>G" "" "{PMID:Sohrab 2010:20149343}" "" "c5018+2C>T" "" "Unknown" "yes" "" "0" "" "" "g.94021238A>G" "" "pathogenic (recessive)" ""
"0000766736" "0" "50" "1" "94548927" "94548927" "subst" "2.4398E-5" "01695" "ABCA4_002160" "g.94548927A>G" "" "{PMID:Fujinami 2011:20163366}" "" "Met280Thr" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94083371A>G" "" "VUS" ""
"0000766737" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Chen 2010:20398653}" "" "L541P/A1038V" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000766738" "1" "10" "1" "94461717" "94461717" "subst" "0.0703199" "01695" "ABCA4_000003" "g.94461717C>A" "" "{PMID:Chen 2010:20398653}" "" "S2255I" "segregation analysis done when possible" "Unknown" "" "" "0" "" "" "g.93996161C>A" "" "benign" ""
"0000766739" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Chen 2010:20398653}" "" "L541P/A1038V" "segregation analysis done when possible" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000766740" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Chen 2010:20398653}" "" "G1961E" "segregation analysis done when possible" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000766741" "0" "10" "1" "94512565" "94512565" "subst" "0.030364" "01695" "ABCA4_000002" "g.94512565C>T" "" "{PMID:Chen 2010:20398653}" "" "R943Q" "segregation analysis done when possible" "Unknown" "" "" "0" "" "" "g.94047009C>T" "" "benign" ""
"0000766742" "0" "50" "1" "94546264" "94546264" "subst" "4.08077E-6" "01695" "ABCA4_001352" "g.94546264C>T" "" "{PMID:Chen 2010:20398653}" "" "R290Q" "segregation analysis done when possible" "Unknown" "" "" "0" "" "" "g.94080708C>T" "" "VUS" ""
"0000766743" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Chen 2010:20398653}" "" "R1129L" "segregation analysis done when possible" "Unknown" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000766744" "0" "70" "1" "94471055" "94471055" "subst" "0.00035346" "01695" "ABCA4_000029" "g.94471055C>T" "" "{PMID:Chen 2010:20398653}" "" "R2030Q" "no variant 2nd chromosome; segregation analysis done when possible" "Unknown" "" "" "0" "" "" "g.94005499C>T" "" "likely pathogenic (recessive)" ""
"0000766745" "0" "50" "1" "94476495" "94476495" "subst" "0" "01695" "ABCA4_000424" "g.94476495A>G" "" "{PMID:Chen 2010:20398653}" "" "IVS39-10,T>C" "no variant 2nd chromosome; segregation analysis done when possible" "Unknown" "" "" "0" "" "" "g.94010939A>G" "" "VUS" ""
"0000766746" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Chen 2010:20398653}" "" "R1108C" "segregation analysis done when possible" "Unknown" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000766747" "0" "50" "1" "94543389" "94543389" "subst" "0.000861235" "01695" "ABCA4_000312" "g.94543389C>T" "" "{PMID:Chen 2010:20398653}" "" "E471K" "no variant 2nd chromosome; segregation analysis done when possible" "Unknown" "" "" "0" "" "" "g.94077833C>T" "" "VUS" ""
"0000766748" "0" "10" "1" "94461717" "94461717" "subst" "0.0703199" "01695" "ABCA4_000003" "g.94461717C>A" "" "{PMID:Chen 2010:20398653}" "" "S2255I" "segregation analysis done when possible" "Unknown" "" "" "0" "" "" "g.93996161C>A" "" "benign" ""
"0000766749" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Chen 2010:20398653}" "" "G1961E" "segregation analysis done when possible" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000766750" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Chen 2010:20398653}" "" "R1129L" "no variant 2nd chromosome; segregation analysis done when possible" "Unknown" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000766751" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Chen 2010:20398653}" "" "IVS40,+5,G>A" "no variant 2nd chromosome; segregation analysis done when possible" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000766752" "0" "10" "1" "94461717" "94461717" "subst" "0.0703199" "01695" "ABCA4_000003" "g.94461717C>A" "" "{PMID:Chen 2010:20398653}" "" "S2255I" "no variant 2nd chromosome; segregation analysis done when possible" "Unknown" "" "" "0" "" "" "g.93996161C>A" "" "benign" ""
"0000766753" "0" "70" "1" "94490548" "94490548" "subst" "0" "01695" "ABCA4_001786" "g.94490548G>C" "" "{PMID:Chen 2010:20398653}" "" "D1532E" "no variant 2nd chromosome; segregation analysis done when possible" "Unknown" "" "" "0" "" "" "g.94024992G>C" "" "likely pathogenic (recessive)" ""
"0000766754" "0" "70" "1" "94506923" "94506923" "subst" "2.43657E-5" "01695" "ABCA4_000012" "g.94506923C>T" "" "{PMID:Chen 2010:20398653}" "" "E1122K" "segregation analysis done when possible" "Unknown" "" "" "0" "" "" "g.94041367C>T" "" "likely pathogenic (recessive)" ""
"0000766755" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Chen 2010:20398653}" "" "P1380L" "segregation analysis done when possible" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000766756" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Chen 2010:20398653}" "" "G863A" "no variant 2nd chromosome; segregation analysis done when possible" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000766757" "0" "70" "1" "94496583" "94496583" "subst" "2.03092E-5" "01695" "ABCA4_000190" "g.94496583A>G" "" "{PMID:Chen 2010:20398653}" "" "W1408R" "segregation analysis done when possible" "Unknown" "" "" "0" "" "" "g.94031027A>G" "" "likely pathogenic (recessive)" ""
"0000766758" "0" "50" "1" "94578529" "94578529" "subst" "0" "01695" "ABCA4_000245" "g.94578529A>C" "" "{PMID:Chen 2010:20398653}" "" "C54T" "segregation analysis done when possible" "Unknown" "" "" "0" "" "" "g.94112973A>C" "" "VUS" ""
"0000766759" "0" "70" "1" "94480178" "94480178" "subst" "2.43692E-5" "01695" "ABCA4_000005" "g.94480178G>T" "" "{PMID:Chen 2010:20398653}" "" "A1794D" "segregation analysis done when possible" "Unknown" "" "" "0" "" "" "g.94014622G>T" "" "likely pathogenic (recessive)" ""
"0000766760" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Chen 2010:20398653}" "" "G863A" "segregation analysis done when possible" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000766761" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Chen 2010:20398653}" "" "G1961E" "no variant 2nd chromosome; segregation analysis done when possible" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000766762" "0" "50" "1" "94476377" "94476377" "subst" "0.00160473" "01695" "ABCA4_000411" "g.94476377C>T" "" "{PMID:Chen 2010:20398653}" "" "R1898H" "no variant 2nd chromosome; segregation analysis done when possible" "Unknown" "" "" "0" "" "" "g.94010821C>T" "" "VUS" ""
"0000766763" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Chen 2010:20398653}" "" "L541P/A1038V" "segregation analysis done when possible" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000766764" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Chen 2010:20398653}" "" "G1961E" "segregation analysis done when possible" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000766765" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Chen 2010:20398653}" "" "A1038V" "segregation analysis done when possible" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000766766" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Chen 2010:20398653}" "" "R1129L" "no variant 2nd chromosome; segregation analysis done when possible" "Unknown" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000766767" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Chen 2010:20398653}" "" "R1129L" "no variant 2nd chromosome; segregation analysis done when possible" "Unknown" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000766768" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Chen 2010:20398653}" "" "G1961E" "no variant 2nd chromosome; segregation analysis done when possible" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000766769" "0" "90" "1" "94586601" "94586601" "subst" "8.12156E-6" "01695" "ABCA4_000264" "g.94586601T>C" "" "{PMID:Chen 2010:20398653}" "" "M1V" "segregation analysis done when possible" "Unknown" "" "" "0" "" "" "g.94121045T>C" "" "pathogenic (recessive)" ""
"0000766770" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Chen 2010:20398653}" "" "G1961E" "segregation analysis done when possible" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000766771" "0" "90" "1" "94528714" "94528714" "subst" "0" "01695" "ABCA4_000296" "g.94528714G>A" "" "{PMID:Chen 2010:20398653}" "" "R572X" "segregation analysis done when possible" "Unknown" "" "" "0" "" "" "g.94063158G>A" "" "pathogenic (recessive)" ""
"0000766772" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Chen 2010:20398653}" "" "L541P/A1038V" "segregation analysis done when possible" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000766773" "1" "90" "1" "94495009" "94495009" "del" "0" "01695" "ABCA4_000534" "g.94495009del" "" "{PMID:Aguirre-Lambán 2008:20960623}" "" "Deletion CCTCCCG^CCCcCCCAG_E30I30_GTACC codon 1512" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94029453del" "" "pathogenic (recessive)" ""
"0000766774" "1" "70" "1" "94471004" "94471004" "subst" "0" "01695" "ABCA4_000789" "g.94471004A>T" "" "{PMID:Aguirre-Lambán 2008:20960624}" "" "Codon 2047 ATC-AAC Ile-Asn" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94005448A>T" "" "likely pathogenic (recessive)" ""
"0000766775" "1" "70" "1" "94522254" "94522254" "subst" "0" "01695" "ABCA4_000742" "g.94522254G>T" "" "{PMID:Aguirre-Lambán 2008:20960628}" "" "Codon 762 GCA-GAA Ala-Glu" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94056698G>T" "" "likely pathogenic (recessive)" ""
"0000766776" "1" "70" "1" "94480094" "94480094" "subst" "0" "01695" "ABCA4_000436" "g.94480094C>T" "" "{PMID:Aguirre-Lambán 2008:20960632}" "" "intron 38 Donor +5 G-A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94014538C>T" "" "likely pathogenic (recessive)" ""
"0000766777" "1" "70" "1" "94466461" "94466461" "subst" "0" "01695" "ABCA4_000825" "g.94466461C>T" "" "{PMID:Aguirre-Lambán 2008:20960633}" "" "Codon 2137 TGT-TAT Cys-Tyr" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94000905C>T" "" "likely pathogenic (recessive)" ""
"0000766778" "1" "90" "1" "94497427" "94497428" "del" "0" "01695" "ABCA4_000580" "g.94497427_94497428del" "" "{PMID:Maia-Lopes 2008:20960665}" "" "Deletion GCAGCTC^AACacGGGGACACAG codon 1345" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94031871_94031872del" "" "pathogenic (recessive)" ""
"0000766779" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Anastasakis 2011:21293320}" "" "(Gly863Ala" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000766780" "0" "50" "1" "94476377" "94476377" "subst" "0.00160473" "01695" "ABCA4_000411" "g.94476377C>T" "" "{PMID:Anastasakis 2011:21293320}" "" "Arg1898his & Lys2056stop" "" "Unknown" "" "" "0" "" "" "g.94010821C>T" "" "VUS" ""
"0000766781" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Anastasakis 2011:21293320}" "" "Leu514Pro & Ala1038Val" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000766782" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Anastasakis 2011:21293320}" "" "Gly1961Glu & Gly65Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000766783" "3" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Aguirre-Lambán 2011:21330655}" "" "c.3386G_x005F_x0001_T, p.Arg1129Leu" "" "Unknown" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000766784" "3" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Aguirre-Lambán 2011:21330655}" "" "c.3386G_x005F_x0001_T, p.Arg1129Leu" "" "Unknown" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000766785" "3" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Aguirre-Lambán 2011:21330655}" "" "c.3386G_x005F_x0001_T, p.Arg1129Leu" "" "Unknown" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000766786" "3" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Aguirre-Lambán 2011:21330655}" "" "c.3386G_x005F_x0001_T, p.Arg1129Leu" "" "Unknown" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000766787" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Aguirre-Lambán 2011:21330655}" "" "c.3386G_x005F_x0001_T, p.Arg1129Leu" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000766788" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Aguirre-Lambán 2011:21330655}" "" "c.3386G_x005F_x0001_T, p.Arg1129Leu" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000766789" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Aguirre-Lambán 2011:21330655}" "" "c.3386G_x005F_x0001_T, p.Arg1129Leu" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000766790" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Aguirre-Lambán 2011:21330655}" "" "c.3386G_x005F_x0001_T, p.Arg1129Leu" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000766791" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Aguirre-Lambán 2011:21330655}" "" "c.3386G_x005F_x0001_T, p.Arg1129Leu" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000766792" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Aguirre-Lambán 2011:21330655}" "" "c.3386G_x005F_x0001_T, p.Arg1129Leu" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000766793" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Aguirre-Lambán 2011:21330655}" "" "c.3386G_x005F_x0001_T, p.Arg1129Leu" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000766794" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Aguirre-Lambán 2011:21330655}" "" "c.3386G_x005F_x0001_T, p.Arg1129Leu" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000766795" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Aguirre-Lambán 2011:21330655}" "" "c.3386G_x005F_x0001_T, p.Arg1129Leu" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000766796" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Aguirre-Lambán 2011:21330655}" "" "c.3386G_x005F_x0001_T, p.Arg1129Leu" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000766797" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Aguirre-Lambán 2011:21330655}" "" "c.3386G_x005F_x0001_T, p.Arg1129Leu" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000766798" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Aguirre-Lambán 2011:21330655}" "" "c.3386G_x005F_x0001_T, p.Arg1129Leu" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000766799" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Aguirre-Lambán 2011:21330655}" "" "c.3386G_x005F_x0001_T, p.Arg1129Leu" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000766800" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Aguirre-Lambán 2011:21330655}" "" "c.3386G_x005F_x0001_T, p.Arg1129Leu" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000766801" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Aguirre-Lambán 2011:21330655}" "" "c.3386G_x005F_x0001_T, p.Arg1129Leu" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000766802" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Aguirre-Lambán 2011:21330655}" "" "c.3386G_x005F_x0001_T, p.Arg1129Leu" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000766803" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Aguirre-Lambán 2011:21330655}" "" "c.3386G_x005F_x0001_T, p.Arg1129Leu" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000766804" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Aguirre-Lambán 2011:21330655}" "" "c.3386G_x005F_x0001_T, p.Arg1129Leu" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000766805" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Aguirre-Lambán 2011:21330655}" "" "c.3386G_x005F_x0001_T, p.Arg1129Leu" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000766806" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Aguirre-Lambán 2011:21330655}" "" "c.3386G_x005F_x0001_T, p.Arg1129Leu" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000766807" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Aguirre-Lambán 2011:21330655}" "" "c.3386G_x005F_x0001_T, p.Arg1129Leu" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000766808" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Aguirre-Lambán 2011:21330655}" "" "c.3386G_x005F_x0001_T, p.Arg1129Leu" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000766809" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Aguirre-Lambán 2011:21330655}" "" "c.3386G_x005F_x0001_T, p.Arg1129Leu" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000766810" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Aguirre-Lambán 2011:21330655}" "" "c.3386G_x005F_x0001_T, p.Arg1129Leu" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000766811" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Aguirre-Lambán 2011:21330655}" "" "c.3386G_x005F_x0001_T, p.Arg1129Leu" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000766812" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Aguirre-Lambán 2011:21330655}" "" "c.3386G_x005F_x0001_T, p.Arg1129Leu" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000766813" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Aguirre-Lambán 2011:21330655}" "" "c.3386G_x005F_x0001_T, p.Arg1129Leu" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000766814" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Aguirre-Lambán 2011:21330655}" "" "c.3386G_x005F_x0001_T, p.Arg1129Leu" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000766815" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Aguirre-Lambán 2011:21330655}" "" "c.3386G_x005F_x0001_T, p.Arg1129Leu" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000766816" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Aguirre-Lambán 2011:21330655}" "" "c.3386G_x005F_x0001_T, p.Arg1129Leu" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000766817" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Aguirre-Lambán 2011:21330655}" "" "c.5882G_x005F_x0001_A, p.Gly1961Glu" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000766818" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Aguirre-Lambán 2011:21330655}" "" "c.5882G_x005F_x0001_A, p.Gly1961Glu" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000766819" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Aguirre-Lambán 2011:21330655}" "" "c.5882G_x005F_x0001_A, p.Gly1961Glu" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000766820" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Aguirre-Lambán 2011:21330655}" "" "c.5882G_x005F_x0001_A, p.Gly1961Glu" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000766821" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Aguirre-Lambán 2011:21330655}" "" "c.5882G_x005F_x0001_A, p.Gly1961Glu" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000766822" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Aguirre-Lambán 2011:21330655}" "" "c.5882G_x005F_x0001_A, p.Gly1961Glu" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000766823" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Aguirre-Lambán 2011:21330655}" "" "c.5882G_x005F_x0001_A, p.Gly1961Glu" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000766824" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Aguirre-Lambán 2011:21330655}" "" "c.5882G_x005F_x0001_A, p.Gly1961Glu" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000766825" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Aguirre-Lambán 2011:21330655}" "" "c.5882G_x005F_x0001_A, p.Gly1961Glu" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000766826" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Aguirre-Lambán 2011:21330655}" "" "c.5882G_x005F_x0001_A, p.Gly1961Glu" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000766827" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Aguirre-Lambán 2011:21330655}" "" "c.5882G_x005F_x0001_A, p.Gly1961Glu" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000766828" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Aguirre-Lambán 2011:21330655}" "" "c.5882G_x005F_x0001_A, p.Gly1961Glu" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000766829" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Aguirre-Lambán 2011:21330655}" "" "c.5882G_x005F_x0001_A, p.Gly1961Glu" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000766830" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Aguirre-Lambán 2011:21330655}" "" "c.5882G_x005F_x0001_A, p.Gly1961Glu" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000766831" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Aguirre-Lambán 2011:21330655}" "" "c.5882G_x005F_x0001_A, p.Gly1961Glu" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000766832" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Aguirre-Lambán 2011:21330655}" "" "c.5882G_x005F_x0001_A, p.Gly1961Glu" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000766833" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Aguirre-Lambán 2011:21330655}" "" "c.5882G_x005F_x0001_A, p.Gly1961Glu" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000766834" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Aguirre-Lambán 2011:21330655}" "" "c.5882G_x005F_x0001_A, p.Gly1961Glu" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000766835" "3" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Aguirre-Lambán 2011:21330655}" "" "c.1804C_x005F_x0001_T, p.Arg602Trp" "" "Unknown" "" "" "0" "" "" "g.94062710G>A" "" "pathogenic (recessive)" ""
"0000766836" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Aguirre-Lambán 2011:21330655}" "" "c.1804C_x005F_x0001_T, p.Arg602Trp" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94062710G>A" "" "pathogenic (recessive)" ""
"0000766837" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Aguirre-Lambán 2011:21330655}" "" "c.1804C_x005F_x0001_T, p.Arg602Trp" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94062710G>A" "" "pathogenic (recessive)" ""
"0000766838" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Aguirre-Lambán 2011:21330655}" "" "c.1804C_x005F_x0001_T, p.Arg602Trp" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94062710G>A" "" "pathogenic (recessive)" ""
"0000766839" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Aguirre-Lambán 2011:21330655}" "" "c.1804C_x005F_x0001_T, p.Arg602Trp" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94062710G>A" "" "pathogenic (recessive)" ""
"0000766840" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Aguirre-Lambán 2011:21330655}" "" "c.1804C_x005F_x0001_T, p.Arg602Trp" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94062710G>A" "" "pathogenic (recessive)" ""
"0000766841" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Aguirre-Lambán 2011:21330655}" "" "c.1804C_x005F_x0001_T, p.Arg602Trp" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94062710G>A" "" "pathogenic (recessive)" ""
"0000766842" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Aguirre-Lambán 2011:21330655}" "" "c.1804C_x005F_x0001_T, p.Arg602Trp" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94062710G>A" "" "pathogenic (recessive)" ""
"0000766843" "0" "90" "1" "94508435" "94508436" "dup" "0" "01695" "ABCA4_000998" "g.94508435_94508436dup" "" "{PMID:Aguirre-Lambán 2011:21330655}" "" "c.3211insGT, Frameshift" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94042879_94042880dup" "" "pathogenic (recessive)" ""
"0000766844" "0" "90" "1" "94508435" "94508436" "dup" "0" "01695" "ABCA4_000998" "g.94508435_94508436dup" "" "{PMID:Aguirre-Lambán 2011:21330655}" "" "c.3211insGT, Frameshift" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94042879_94042880dup" "" "pathogenic (recessive)" ""
"0000766845" "0" "90" "1" "94508435" "94508436" "dup" "0" "01695" "ABCA4_000998" "g.94508435_94508436dup" "" "{PMID:Aguirre-Lambán 2011:21330655}" "" "c.3211insGT, Frameshift" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94042879_94042880dup" "" "pathogenic (recessive)" ""
"0000766846" "0" "90" "1" "94508435" "94508436" "dup" "0" "01695" "ABCA4_000998" "g.94508435_94508436dup" "" "{PMID:Aguirre-Lambán 2011:21330655}" "" "c.3211insGT, Frameshift" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94042879_94042880dup" "" "pathogenic (recessive)" ""
"0000766847" "0" "90" "1" "94508435" "94508436" "dup" "0" "01695" "ABCA4_000998" "g.94508435_94508436dup" "" "{PMID:Aguirre-Lambán 2011:21330655}" "" "c.3211insGT, Frameshift" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94042879_94042880dup" "" "pathogenic (recessive)" ""
"0000766848" "0" "90" "1" "94508435" "94508436" "dup" "0" "01695" "ABCA4_000998" "g.94508435_94508436dup" "" "{PMID:Aguirre-Lambán 2011:21330655}" "" "c.3211insGT, Frameshift" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94042879_94042880dup" "" "pathogenic (recessive)" ""
"0000766849" "0" "90" "1" "94508435" "94508436" "dup" "0" "01695" "ABCA4_000998" "g.94508435_94508436dup" "" "{PMID:Aguirre-Lambán 2011:21330655}" "" "c.3211insGT, Frameshift" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94042879_94042880dup" "" "pathogenic (recessive)" ""
"0000766850" "0" "70" "1" "94467517" "94467517" "subst" "0" "01695" "ABCA4_000786" "g.94467517A>C" "" "{PMID:Aguirre-Lambán 2011:21330655}" "" "c.6179T_x005F_x0001_G, p.Leu2060Arg" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94001961A>C" "" "likely pathogenic (recessive)" ""
"0000766851" "0" "70" "1" "94467517" "94467517" "subst" "0" "01695" "ABCA4_000786" "g.94467517A>C" "" "{PMID:Aguirre-Lambán 2011:21330655}" "" "c.6179T_x005F_x0001_G, p.Leu2060Arg" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94001961A>C" "" "likely pathogenic (recessive)" ""
"0000766852" "0" "70" "1" "94467517" "94467517" "subst" "0" "01695" "ABCA4_000786" "g.94467517A>C" "" "{PMID:Aguirre-Lambán 2011:21330655}" "" "c.6179T_x005F_x0001_G, p.Leu2060Arg" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94001961A>C" "" "likely pathogenic (recessive)" ""
"0000766853" "0" "70" "1" "94467517" "94467517" "subst" "0" "01695" "ABCA4_000786" "g.94467517A>C" "" "{PMID:Aguirre-Lambán 2011:21330655}" "" "c.6179T_x005F_x0001_G, p.Leu2060Arg" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94001961A>C" "" "likely pathogenic (recessive)" ""
"0000766854" "0" "70" "1" "94467517" "94467517" "subst" "0" "01695" "ABCA4_000786" "g.94467517A>C" "" "{PMID:Aguirre-Lambán 2011:21330655}" "" "c.6179T_x005F_x0001_G, p.Leu2060Arg" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94001961A>C" "" "likely pathogenic (recessive)" ""
"0000766855" "0" "70" "1" "94467517" "94467517" "subst" "0" "01695" "ABCA4_000786" "g.94467517A>C" "" "{PMID:Aguirre-Lambán 2011:21330655}" "" "c.6179T_x005F_x0001_G, p.Leu2060Arg" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94001961A>C" "" "likely pathogenic (recessive)" ""
"0000766856" "0" "70" "1" "94467517" "94467517" "subst" "0" "01695" "ABCA4_000786" "g.94467517A>C" "" "{PMID:Aguirre-Lambán 2011:21330655}" "" "c.6179T_x005F_x0001_G, p.Leu2060Arg" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94001961A>C" "" "likely pathogenic (recessive)" ""
"0000766857" "0" "50" "1" "94480164" "94480164" "subst" "0" "01695" "ABCA4_000440" "g.94480164T>C" "" "{PMID:Burke 2011:21873672}" "" "A1799D" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94014608T>C" "" "VUS" ""
"0000766858" "0" "50" "1" "94502756" "94502756" "subst" "0.000422575" "01695" "ABCA4_000032" "g.94502756G>A" "" "{PMID:Burke 2011:21873672}" "" "T1253M" "" "Unknown" "" "" "0" "" "" "g.94037200G>A" "" "VUS" ""
"0000766859" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Burke 2011:21873672}" "" "G863A" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000766860" "0" "50" "1" "94568660" "94568660" "subst" "4.06138E-6" "01695" "ABCA4_000208" "g.94568660C>T" "" "{PMID:Burke 2011:21873672}" "" "E161K" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94103104C>T" "" "VUS" ""
"0000766861" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Burke 2011:21873672}" "" "L541P/A1038V" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000766862" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Burke 2011:21873672}" "" "L541P/A1038V" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000766863" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Burke 2011:21873672}" "" "L541P/A1038V" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000766864" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Burke 2011:21873672}" "" "L541P/A1038V" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000766865" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Burke 2011:21873672}" "" "L2027F" "" "Unknown" "" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic (recessive)" ""
"0000766866" "3" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Burke 2011:21873672}" "" "G1961E" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000766867" "0" "70" "1" "94510164" "94510164" "subst" "1.62441E-5" "01695" "ABCA4_000144" "g.94510164C>T" "" "{PMID:Burke 2011:21873672}" "" "IVS20+5G>A" "" "Unknown" "" "" "0" "" "" "g.94044608C>T" "" "likely pathogenic (recessive)" ""
"0000766868" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Burke 2011:21873672}" "" "L541P/A1038V" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000766869" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Burke 2011:21873672}" "" "P1380L" "" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000766870" "0" "70" "1" "94508322" "94508322" "subst" "1.62513E-5" "01695" "ABCA4_000128" "g.94508322C>T" "" "{PMID:Burke 2011:21873672}" "" "R1108H" "" "Unknown" "" "" "0" "" "" "g.94042766C>T" "" "likely pathogenic (recessive)" ""
"0000766871" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Burke 2011:21873672}" "" "G863A" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000766872" "0" "90" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Burke 2011:21873672}" "" "N965S" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94046943T>C" "" "pathogenic (recessive)" ""
"0000766873" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Burke 2011:21873672}" "" "IVS38–10T>C" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000766874" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Burke 2011:21873672}" "" "IVS38–10T>C" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000766875" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Burke 2011:21873672}" "" "L541P/A1038V" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000766876" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Burke 2011:21873672}" "" "G1961E" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000766877" "0" "50" "1" "94520694" "94520694" "subst" "8.12414E-6" "01695" "ABCA4_000712" "g.94520694C>T" "" "{PMID:Burke 2011:21873672}" "" "A854T" "" "Unknown" "" "" "0" "" "" "g.94055138C>T" "" "VUS" ""
"0000766878" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Burke 2011:21873672}" "" "G1961E" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000766879" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Burke 2011:21873672}" "" "R602W" "" "Unknown" "" "" "0" "" "" "g.94062710G>A" "" "pathogenic (recessive)" ""
"0000766880" "3" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Burke 2011:21873672}" "" "P1380L" "" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000766881" "0" "70" "1" "94486896" "94486896" "subst" "3.65562E-5" "01695" "ABCA4_000085" "g.94486896G>A" "" "{PMID:Burke 2011:21873672}" "" "R1640W" "" "Unknown" "" "" "0" "" "" "g.94021340G>A" "" "likely pathogenic (recessive)" ""
"0000766882" "0" "70" "1" "94577135" "94577135" "subst" "2.43718E-5" "01695" "ABCA4_000240" "g.94577135C>T" "" "{PMID:Burke 2011:21873672}" "" "C54Y" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94111579C>T" "" "likely pathogenic (recessive)" ""
"0000766883" "0" "70" "1" "94486896" "94486896" "subst" "3.65562E-5" "01695" "ABCA4_000085" "g.94486896G>A" "" "{PMID:Burke 2011:21873672}" "" "R1640W" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94021340G>A" "" "likely pathogenic (recessive)" ""
"0000766884" "0" "70" "1" "94496583" "94496583" "subst" "2.03092E-5" "01695" "ABCA4_000190" "g.94496583A>G" "" "{PMID:Cukras 2012:21987580}" "" "c.4222T>C" "" "Unknown" "" "" "0" "" "" "g.94031027A>G" "" "likely pathogenic (recessive)" ""
"0000766885" "0" "50" "1" "94476495" "94476495" "subst" "0" "01695" "ABCA4_000424" "g.94476495A>G" "" "{PMID:Cukras 2012:21987580}" "" "IVS39 + 10 T>C" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94010939A>G" "" "VUS" ""
"0000766886" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Park 2012:22060670}" "" "IVS40 + 5G?A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000766887" "0" "70" "1" "94496589" "94496589" "subst" "0" "01695" "ABCA4_000568" "g.94496589G>A" "" "{PMID:Park 2012:22060670}" "" "H1406Y" "" "Unknown" "" "" "0" "" "" "g.94031033G>A" "" "likely pathogenic (recessive)" ""
"0000766888" "3" "70" "1" "94576990" "94576990" "subst" "0" "01695" "ABCA4_000221" "g.94576990T>G" "" "{PMID:Siemiatkowska 2011:22128245}" "" "c.302+4A>C" "" "Unknown" "" "" "0" "" "" "g.94111434T>G" "" "likely pathogenic (recessive)" ""
"0000766889" "3" "70" "1" "94576990" "94576990" "subst" "0" "01695" "ABCA4_000221" "g.94576990T>G" "" "{PMID:Siemiatkowska 2011:22128245}" "" "c.302+4A>C" "" "Unknown" "" "" "0" "" "" "g.94111434T>G" "" "likely pathogenic (recessive)" ""
"0000766890" "1" "90" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Cideciyan 2012:22247458}{PMID:Cideciyan 2015:26377081}" "" "N965S" "" "Unknown" "yes" "" "0" "" "" "g.94046943T>C" "" "pathogenic (recessive)" ""
"0000766891" "1" "90" "1" "94510253" "94510253" "subst" "0.000247694" "01695" "ABCA4_000108" "g.94510253A>G" "" "{PMID:Cideciyan 2012:22247458}{PMID:Huang 2014:24550365}" "" "V989A" "" "Unknown" "yes" "" "0" "" "" "g.94044697A>G" "" "pathogenic (recessive)" ""
"0000766892" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cideciyan 2012:22247458}" "" "G1961E" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000766893" "1" "90" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Cideciyan 2012:22247458}" "" "R212C" "" "Unknown" "yes" "" "0" "" "" "g.94098928G>A" "" "pathogenic (recessive)" ""
"0000766894" "1" "90" "1" "94495009" "94495009" "del" "0" "01695" "ABCA4_000534" "g.94495009del" "" "{PMID:Cideciyan 2012:22247458}" "" "P1511del1ccgC" "" "Unknown" "yes" "" "0" "" "" "g.94029453del" "" "pathogenic (recessive)" ""
"0000766895" "1" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cideciyan 2012:22247458}" "" "G1961E" "no variant 2nd chromosome" "Unknown" "yes" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000766896" "1" "90" "1" "94510253" "94510253" "subst" "0.000247694" "01695" "ABCA4_000108" "g.94510253A>G" "" "{PMID:Cideciyan 2012:22247458}" "" "V989A" "" "Unknown" "yes" "" "0" "" "" "g.94044697A>G" "" "pathogenic (recessive)" ""
"0000766897" "1" "90" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Cideciyan 2012:22247458}{PMID:Cideciyan 2015:26377081}" "" "N965S" "" "Unknown" "yes" "" "0" "" "" "g.94046943T>C" "" "pathogenic (recessive)" ""
"0000766898" "1" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Cideciyan 2012:22247458}" "" "G863A" "" "Unknown" "yes" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000766899" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Cideciyan 2012:22247458}" "" "G863A" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000766900" "1" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cideciyan 2012:22247458}" "" "G1961E" "" "Unknown" "yes" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000766901" "1" "70" "1" "94495083" "94495083" "subst" "0.000124542" "01695" "ABCA4_000542" "g.94495083G>A" "" "{PMID:Cideciyan 2012:22247458}" "" "P1486L" "" "Unknown" "yes" "" "0" "" "" "g.94029527G>A" "" "likely pathogenic (recessive)" ""
"0000766902" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Cideciyan 2012:22247458}" "" "A1038V/L541P" "" "Unknown" "yes" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000766903" "1" "90" "1" "94520690" "94520690" "subst" "2.03102E-5" "01695" "ABCA4_000149" "g.94520690C>T" "" "{PMID:Cideciyan 2012:22247458}" "" "W855X" "no variant 2nd chromosome" "Unknown" "yes" "" "0" "" "" "g.94055134C>T" "" "pathogenic (recessive)" ""
"0000766904" "0" "70" "1" "94577082" "94577082" "subst" "2.84315E-5" "01695" "ABCA4_000232" "g.94577082C>T" "" "{PMID:Thiadens 2012:22264887}" "" "c.214G>A p.G72R" "" "Unknown" "" "" "0" "" "" "g.94111526C>T" "" "likely pathogenic (recessive)" ""
"0000766905" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Thiadens 2012:22264887}" "" "c.768G>T p.V256V / splice defect" "" "Unknown" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000766906" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Thiadens 2012:22264887}" "" "c.768G>T p.V256V / splice defect" "" "Unknown" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000766907" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Thiadens 2012:22264887}" "" "c.768G>T p.V256V / splice defect" "" "Unknown" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000766908" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Thiadens 2012:22264887}" "" "c.768G>T p.V256V / splice defect" "" "Unknown" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000766909" "0" "70" "1" "94528248" "94528248" "subst" "1.22148E-5" "01695" "ABCA4_000279" "g.94528248A>T" "" "{PMID:Thiadens 2012:22264887}" "" "c.1822T>A p.F608I" "" "Unknown" "" "" "0" "" "" "g.94062692A>T" "" "likely pathogenic (recessive)" ""
"0000766910" "0" "90" "1" "94495000" "94495000" "subst" "0" "01695" "ABCA4_000164" "g.94495000C>A" "" "{PMID:Thiadens 2012:22264887}" "" "c.4539+1G>T splice defect" "" "Unknown" "" "" "0" "" "" "g.94029444C>A" "" "pathogenic (recessive)" ""
"0000766911" "0" "70" "1" "94467467" "94467467" "subst" "4.06164E-6" "01695" "ABCA4_000095" "g.94467467G>C" "" "{PMID:Thiadens 2012:22264887}" "" "c.6229C>G p.R2077G" "" "Unknown" "" "" "0" "" "" "g.94001911G>C" "" "likely pathogenic (recessive)" ""
"0000766912" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Thiadens 2012:22264887}" "" "c.5882G>A p.G1961E" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000766913" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Thiadens 2012:22264887}" "" "c.768G>T p.V256V / splice defect" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000766914" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Thiadens 2012:22264887}" "" "c.768G>T p.V256V / splice defect" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000766915" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Thiadens 2012:22264887}" "" "c.768G>T p.V256V / splice defect" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000766916" "0" "50" "1" "94514477" "94514477" "subst" "0.00118992" "01695" "ABCA4_000700" "g.94514477G>A" "" "{PMID:Thiadens 2012:22264887}" "" "c.2690C>T p.T897I" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94048921G>A" "" "VUS" ""
"0000766917" "0" "50" "1" "94514477" "94514477" "subst" "0.00118992" "01695" "ABCA4_000700" "g.94514477G>A" "" "{PMID:Thiadens 2012:22264887}" "" "c.2690C>T p.T897I" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94048921G>A" "" "VUS" ""
"0000766918" "0" "50" "1" "94514477" "94514477" "subst" "0.00118992" "01695" "ABCA4_000700" "g.94514477G>A" "" "{PMID:Thiadens 2012:22264887}" "" "c.2690C>T p.T897I" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94048921G>A" "" "VUS" ""
"0000766919" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Thiadens 2012:22264887}" "" "c.5461-10T>C splice defect" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000766920" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Thiadens 2012:22264887}" "" "c.5461-10T>C splice defect" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000766921" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Thiadens 2012:22264887}" "" "c.5461-10T>C splice defect" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000766922" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Thiadens 2012:22264887}" "" "c.5461-10T>C splice defect" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000766923" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Thiadens 2012:22264887}" "" "c.5461-10T>C splice defect" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000766924" "0" "50" "1" "94473287" "94473287" "subst" "0.00293818" "01695" "ABCA4_000395" "g.94473287G>A" "" "{PMID:Thiadens 2012:22264887}" "" "c.5908C>T p.L1970F" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94007731G>A" "" "VUS" ""
"0000766925" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Thiadens 2012:22264887}" "" "c.2588G>C/ c.2828G>A p.G863A/ p.R943Q" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000766926" "0" "90" "1" "94528844" "94528844" "subst" "0" "01695" "ABCA4_001435" "g.94528844G>T" "" "{PMID:Leng 2012:22466470}" "" "c.1584C.A (p.Tyr528X)" "" "Unknown" "" "" "0" "" "" "g.94063288G>T" "" "pathogenic (recessive)" ""
"0000766927" "0" "70" "1" "94490550" "94490550" "subst" "0.000105588" "01695" "ABCA4_000523" "g.94490550C>T" "" "{PMID:Giani 2012:22589445}" "" "c.4594G > A (pAsp1532Asn)" "" "Unknown" "" "" "0" "" "" "g.94024994C>T" "" "likely pathogenic (recessive)" ""
"0000766928" "0" "90" "1" "94526154" "94526154" "subst" "4.06441E-6" "01695" "ABCA4_000752" "g.94526154C>T" "" "{PMID:Giani 2012:22589445}" "" "c.2099G > A (p.Trp700Term)" "" "Unknown" "" "" "0" "" "" "g.94060598C>T" "" "pathogenic (recessive)" ""
"0000766929" "3" "90" "1" "94486794" "94486794" "subst" "0" "01695" "ABCA4_000478" "g.94486794A>G" "" "{PMID:Burke 2013:22871184}" "" "IVS 35+2 T>C" "" "Unknown" "yes" "" "0" "" "" "g.94021238A>G" "" "pathogenic (recessive)" ""
"0000766930" "0" "90" "1" "94517209" "94517209" "subst" "0" "01695" "ABCA4_002000" "g.94517209G>T" "" "{PMID:Yi 2012:22948568}" "" "2633C>A Ser878X" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94051653G>T" "" "pathogenic (recessive)" ""
"0000766931" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Burton 2013:23329737}" "" "G1961E" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000766932" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Burton 2013:23329737}" "" "G1961E" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000766933" "0" "70" "1" "94466391" "94467549" "" "0" "01695" "ABCA4_002274" "g.(94463667_94466391)_(94467549_94470996)del" "" "{PMID:Schorderet 2013:23484092}" "" "g.ABCA4-ex45-47del" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.(93998111_94000835)_(94001993_94005440)del" "" "likely pathogenic (recessive)" ""
"0000766934" "0" "10" "1" "94505604" "94505604" "subst" "0.00645586" "01695" "ABCA4_000092" "g.94505604A>C" "" "{PMID:Utz 2013:24011517}" "" "c.3602T>G (p.L1201R" "" "Unknown" "" "" "0" "" "" "g.94040048A>C" "" "benign" ""
"0000766935" "0" "10" "1" "94505604" "94505604" "subst" "0.00645586" "01695" "ABCA4_000092" "g.94505604A>C" "" "{PMID:Utz 2013:24011517}" "" "c.3602T>G (p.L1201R)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94040048A>C" "" "benign" ""
"0000766936" "0" "10" "1" "94505604" "94505604" "subst" "0.00645586" "01695" "ABCA4_000092" "g.94505604A>C" "" "{PMID:Utz 2013:24011517}" "" "c.3602T>G (p.L1201R)" "" "Unknown" "" "" "0" "" "" "g.94040048A>C" "" "benign" ""
"0000766937" "0" "10" "1" "94497563" "94497563" "subst" "0.00492504" "01695" "ABCA4_000090" "g.94497563C>T" "" "{PMID:Utz 2013:24011517}" "" "c.3899G>A (p.R1300Q)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94032007C>T" "" "benign" ""
"0000766938" "0" "10" "1" "94497563" "94497563" "subst" "0.00492504" "01695" "ABCA4_000090" "g.94497563C>T" "" "{PMID:Utz 2013:24011517}" "" "c.3899G>A (p.R1300Q)" "" "Unknown" "" "" "0" "" "" "g.94032007C>T" "" "benign" ""
"0000766939" "0" "10" "1" "94497563" "94497563" "subst" "0.00492504" "01695" "ABCA4_000090" "g.94497563C>T" "" "{PMID:Utz 2013:24011517}" "" "c.3899G>A (p.R1300Q)" "" "Unknown" "" "" "0" "" "" "g.94032007C>T" "" "benign" ""
"0000766940" "0" "90" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Utz 2013:24011517}" "" "c.6320G>A (p.R2107H)" "" "Unknown" "" "" "0" "" "" "g.94001068C>T" "" "pathogenic (recessive)" ""
"0000766941" "0" "90" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Utz 2013:24011517}" "" "c.6320G>A (p.R2107H)" "" "Unknown" "" "" "0" "" "" "g.94001068C>T" "" "pathogenic (recessive)" ""
"0000766942" "0" "90" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Utz 2013:24011517}" "" "c.6320G>A (p.R2107H)" "" "Unknown" "" "" "0" "" "" "g.94001068C>T" "" "pathogenic (recessive)" ""
"0000766943" "0" "90" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Utz 2013:24011517}" "" "c.6320G>A (p.R2107H)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94001068C>T" "" "pathogenic (recessive)" ""
"0000766944" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Fujinami 2014:24020726}" "" "c.768G > T, p.V256V" "" "Unknown" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000766945" "0" "90" "1" "94528164" "94528164" "subst" "2.03336E-5" "01695" "ABCA4_000267" "g.94528164G>A" "" "{PMID:Fujinami 2014:24020726}" "" "c.1906C > T" "" "Unknown" "" "" "0" "" "" "g.94062608G>A" "" "pathogenic (recessive)" ""
"0000766946" "0" "70" "1" "94577135" "94577135" "subst" "2.43718E-5" "01695" "ABCA4_000240" "g.94577135C>T" "" "{PMID:Duncker 2013:24071957}" "" "p.C54Y" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94111579C>T" "" "likely pathogenic (recessive)" ""
"0000766947" "0" "70" "1" "94467467" "94467467" "subst" "4.06164E-6" "01695" "ABCA4_000780" "g.94467467G>A" "" "{PMID:Duncker 2013:24071957}" "" "p.R2077W" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94001911G>A" "" "likely pathogenic (recessive)" ""
"0000766948" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Duncker 2013:24071957}" "" "p.[L541P;A1038V]" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000766949" "0" "70" "1" "94512478" "94512478" "subst" "3.65871E-5" "01695" "ABCA4_000678" "g.94512478G>T" "" "{PMID:Duncker 2013:24071957}" "" "p.T972N," "" "Unknown" "" "" "0" "" "" "g.94046922G>T" "" "likely pathogenic (recessive)" ""
"0000766950" "0" "90" "1" "94495009" "94495009" "dup" "0" "01695" "ABCA4_000087" "g.94495009dup" "" "{PMID:Duncker 2013:24071957}" "" "c.4537_4538insC," "" "Unknown" "" "" "0" "" "" "g.94029453dup" "" "pathogenic (recessive)" ""
"0000766951" "0" "70" "1" "94508322" "94508322" "subst" "1.62513E-5" "01695" "ABCA4_000128" "g.94508322C>T" "" "{PMID:Duncker 2013:24071957}" "" "p.R1108H," "" "Unknown" "" "" "0" "" "" "g.94042766C>T" "" "likely pathogenic (recessive)" ""
"0000766952" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Duncker 2013:24071957}" "" "c.5714+5G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000766953" "0" "50" "1" "94528162" "94528162" "subst" "0" "01695" "ABCA4_000266" "g.94528162C>A" "" "{PMID:Duncker 2013:24071957}{PMID:Lee 2017:28327576}" "" "p.Q636H," "" "Unknown" "" "" "0" "" "" "g.94062606C>A" "" "VUS" ""
"0000766954" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Duncker 2013:24071957}" "" "c.5461-10T>C" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000766955" "0" "70" "1" "94486896" "94486896" "subst" "3.65562E-5" "01695" "ABCA4_000085" "g.94486896G>A" "" "{PMID:Duncker 2013:24071957}" "" "p.R1640W" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94021340G>A" "" "likely pathogenic (recessive)" ""
"0000766956" "0" "50" "1" "94546265" "94546265" "subst" "2.04063E-5" "01695" "ABCA4_000355" "g.94546265G>A" "" "{PMID:Duncker 2013:24071957}" "" "p.R290W" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94080709G>A" "" "VUS" ""
"0000766957" "0" "70" "1" "94480241" "94480241" "subst" "7.71705E-5" "01695" "ABCA4_000446" "g.94480241G>A" "" "{PMID:Duncker 2013:24071957}" "" "p.A1773V," "" "Unknown" "" "" "0" "" "" "g.94014685G>A" "" "likely pathogenic (recessive)" ""
"0000766958" "3" "90" "1" "94526212" "94526212" "subst" "1.22012E-5" "01695" "ABCA4_000075" "g.94526212G>A" "" "{PMID:Chouchene 2013:24342785}" "" "c.2041C>T" "" "Germline" "" "" "0" "" "" "g.94060656G>A" "" "pathogenic (recessive)" ""
"0000766959" "3" "90" "1" "94526212" "94526212" "subst" "1.22012E-5" "01695" "ABCA4_000075" "g.94526212G>A" "" "{PMID:Chouchene 2013:24342785}" "" "c.2041C>T" "" "Germline" "" "" "0" "" "" "g.94060656G>A" "" "pathogenic (recessive)" ""
"0000766960" "0" "70" "1" "94467467" "94467467" "subst" "4.06164E-6" "01695" "ABCA4_000095" "g.94467467G>C" "" "{PMID:Huynh 2014:24397708}" "" "R2077G (c.6229 C>G)" "" "Unknown" "" "" "0" "" "" "g.94001911G>C" "" "likely pathogenic (recessive)" ""
"0000766961" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Verdina 2012:24409374}" "" "c.4139C>T (p.Pro1380Leu);" "" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000766962" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Verdina 2012:24409374}" "" "c.1622T>C (p.Leu541Pro)/c.3113C>T (p.Ala1038Val)" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000766963" "3" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Verdina 2012:24409374}" "" "c.5882G>A (p.Gly1961Glu);" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000766964" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Verdina 2012:24409374}" "" "c.1622T>C (p.Leu541Pro)/c.3113C>T (p.Ala1038Val)" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000766965" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Verdina 2012:24409374}" "" "c.5882G>A (p.Gly1961Glu)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000766966" "0" "90" "1" "94522194" "94522194" "subst" "0" "01695" "ABCA4_000733" "g.94522194C>T" "" "{PMID:Verdina 2012:24409374}" "" "c.2345G>A (p.Trp782*);" "" "Unknown" "" "" "0" "" "" "g.94056638C>T" "" "pathogenic (recessive)" ""
"0000766967" "3" "50" "1" "94496039" "94496039" "subst" "0.00157963" "01695" "ABCA4_000552" "g.94496039C>T" "" "{PMID:Verdina 2012:24409374}" "" "c.4297G>A (p.Val1433Ile);" "" "Unknown" "" "" "0" "" "" "g.94030483C>T" "" "VUS" ""
"0000766968" "0" "70" "1" "94502904" "94502904" "subst" "2.03899E-5" "01695" "ABCA4_000604" "g.94502904C>T" "" "{PMID:Verdina 2012:24409374}" "" "c.3610G>A (p.Asp1204Asn);" "" "Unknown" "" "" "0" "" "" "g.94037348C>T" "" "likely pathogenic (recessive)" ""
"0000766969" "0" "70" "1" "94508322" "94508322" "subst" "1.62513E-5" "01695" "ABCA4_000128" "g.94508322C>T" "" "{PMID:Verdina 2012:24409374}" "" "c.3323G>A (p.Arg1108His)" "" "Unknown" "" "" "0" "" "" "g.94042766C>T" "" "likely pathogenic (recessive)" ""
"0000766970" "0" "90" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Verdina 2012:24409374}" "" "c.634C>T (p.Arg212Cys);" "" "Unknown" "" "" "0" "" "" "g.94098928G>A" "" "pathogenic (recessive)" ""
"0000766971" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Verdina 2012:24409374}" "" "c.768G>T (p.Val256Val);" "" "Unknown" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000766972" "0" "90" "1" "94495157" "94495157" "subst" "0" "01695" "ABCA4_000545" "g.94495157C>T" "" "{PMID:Verdina 2012:24409374}" "" "c.4383G>A (p.Trp1461*);" "" "Unknown" "" "" "0" "" "" "g.94029601C>T" "" "pathogenic (recessive)" ""
"0000766973" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Verdina 2012:24409374}" "" "c.5882G>A (p.Gly1961Glu);" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000766974" "3" "70" "1" "94520793" "94520793" "subst" "8.13292E-6" "01695" "ABCA4_000723" "g.94520793A>T" "" "{PMID:Verdina 2012:24409374}" "" "c.2461T>A (p.Trp821Arg);" "" "Unknown" "" "" "0" "" "" "g.94055237A>T" "" "likely pathogenic (recessive)" ""
"0000766975" "0" "90" "1" "94463610" "94463610" "del" "0" "01695" "ABCA4_001571" "g.94463610del" "" "{PMID:Verdina 2012:24409374}" "" "c.6537del (p.Pro2180Leufs*3)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.93998054del" "" "pathogenic (recessive)" ""
"0000766976" "10" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Singh 2014:24428930}" "" "(p.L541P/p.A1038V)" "" "Unknown" "yes" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000766977" "10" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Singh 2014:24428930}" "" "(p.L541P/p.A1038V)" "" "Unknown" "yes" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000766978" "3" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Ortube 2014:24444108}" "" "p.Arg602Trp" "" "Unknown" "yes" "" "0" "" "" "g.94062710G>A" "" "pathogenic (recessive)" ""
"0000766979" "3" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Serapinas 2013:24509150}" "" "(c.1622T>C;L541P)" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000766980" "0" "70" "1" "94546111" "94546111" "subst" "0" "01695" "ABCA4_000340" "g.94546111T>C" "" "{PMID:Huang 2014:24550365}" "" "E341G" "" "Unknown" "" "" "0" "" "" "g.94080555T>C" "" "likely pathogenic (recessive)" ""
"0000766981" "0" "90" "1" "94546047" "94546047" "subst" "0" "01695" "ABCA4_000150" "g.94546047A>T" "" "{PMID:Huang 2014:24550365}" "" "Y362X" "" "Unknown" "" "" "0" "" "" "g.94080491A>T" "" "pathogenic (recessive)" ""
"0000766982" "0" "70" "1" "94486895" "94486895" "subst" "3.24923E-5" "01695" "ABCA4_000484" "g.94486895C>T" "" "{PMID:Huang 2014:24550365}" "" "R1640Q" "" "Unknown" "" "" "0" "" "" "g.94021339C>T" "" "likely pathogenic (recessive)" ""
"0000766983" "3" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Huang 2014:24550365}{PMID:Cideciyan 2015:26377081}" "" "G1961E" "" "Unknown" "yes" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000766984" "3" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Huang 2014:24550365}{PMID:Cideciyan 2015:26377081}" "" "G1961E" "" "Unknown" "yes" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000766985" "0" "70" "1" "94474369" "94474369" "subst" "4.06118E-6" "01695" "ABCA4_001658" "g.94474369T>C" "" "{PMID:Huang 2014:24550365}" "" "R1925G" "" "Unknown" "" "" "0" "" "" "g.94008813T>C" "" "likely pathogenic (recessive)" ""
"0000766986" "0" "70" "1" "94495083" "94495083" "subst" "0.000124542" "01695" "ABCA4_000542" "g.94495083G>A" "" "{PMID:Huang 2014:24550365}" "" "P1486L" "" "Unknown" "" "" "0" "" "" "g.94029527G>A" "" "likely pathogenic (recessive)" ""
"0000766987" "0" "90" "1" "94508435" "94508436" "dup" "0" "01695" "ABCA4_000998" "g.94508435_94508436dup" "" "{PMID:Huang 2014:24550365}" "" "c.3208_3209insTG" "" "Unknown" "" "" "0" "" "" "g.94042879_94042880dup" "" "pathogenic (recessive)" ""
"0000766988" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Huang 2014:24550365}" "" "IVS38-10T>C" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000766989" "3" "90" "1" "94502343" "94502343" "dup" "0" "01695" "ABCA4_000592" "g.94502343dup" "" "{PMID:Coppieters 2014:24625443}" "" "c.3819dup (p.Leu1274fs)" "" "Unknown" "yes" "" "0" "" "" "g.94036787dup" "" "pathogenic (recessive)" ""
"0000766990" "21" "70" "1" "94487399" "94487399" "subst" "7.30959E-5" "01695" "ABCA4_000038" "g.94487399T>C" "" "{PMID:Jonsson 2014:24664696}" "" "c. 4773+3A>G" "" "Unknown" "yes" "" "0" "" "" "g.94021843T>C" "" "likely pathogenic (recessive)" ""
"0000766991" "3" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Jonsson 2014:24664696}" "" "c.5461-10T>C" "" "Unknown" "yes" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000766992" "0" "70" "1" "94577093" "94577093" "subst" "8.12394E-6" "01695" "ABCA4_000147" "g.94577093G>A" "" "{PMID:Bertelsen 2014:24713488}" "" "c.203C>T p.P68L" "" "Unknown" "" "" "0" "" "" "g.94111537G>A" "" "likely pathogenic (recessive)" ""
"0000766993" "0" "90" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Bertelsen 2014:24713488}" "" "c.2894A>G p.N965S" "" "Unknown" "" "" "0" "" "" "g.94046943T>C" "" "pathogenic (recessive)" ""
"0000766994" "0" "50" "1" "94486888" "94486888" "subst" "3.65548E-5" "01695" "ABCA4_000137" "g.94486888G>C" "" "{PMID:Bertelsen 2014:24713488}" "" "c.4926C>G p.S1642R" "" "Unknown" "" "" "0" "" "" "g.94021332G>C" "" "VUS" ""
"0000766995" "0" "90" "1" "94485165" "94485165" "subst" "0" "01695" "ABCA4_001016" "g.94485165G>C" "" "{PMID:Bertelsen 2014:24713488}" "" "c.5169C>G p.Y1723*" "" "Unknown" "" "" "0" "" "" "g.94019609G>C" "" "pathogenic (recessive)" ""
"0000766996" "3" "90" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Bertelsen 2014:24713488}" "" "c.2894A>G p.N965S" "" "Unknown" "" "" "0" "" "" "g.94046943T>C" "" "pathogenic (recessive)" ""
"0000766997" "0" "90" "1" "94466557" "94466557" "subst" "4.06154E-6" "01695" "ABCA4_000832" "g.94466557C>T" "" "{PMID:Bertelsen 2014:24713488}" "" "c.6386+1G>A Aberrant splicing" "" "Unknown" "" "" "0" "" "" "g.94001001C>T" "" "pathogenic (recessive)" ""
"0000766998" "0" "90" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Bertelsen 2014:24713488}" "" "c.2894A>G p.N965S" "" "Unknown" "" "" "0" "" "" "g.94046943T>C" "" "pathogenic (recessive)" ""
"0000766999" "3" "70" "1" "94467467" "94467467" "subst" "4.06164E-6" "01695" "ABCA4_000780" "g.94467467G>A" "" "{PMID:Bertelsen 2014:24713488}" "" "c.6229C>T p.R2077W" "" "Unknown" "" "" "0" "" "" "g.94001911G>A" "" "likely pathogenic (recessive)" ""
"0000767000" "0" "90" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Bertelsen 2014:24713488}" "" "c.2894A>G p.N965S" "" "Unknown" "" "" "0" "" "" "g.94046943T>C" "" "pathogenic (recessive)" ""
"0000767001" "0" "90" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Bertelsen 2014:24713488}" "" "c.2894A>G p.N965S" "" "Unknown" "" "" "0" "" "" "g.94046943T>C" "" "pathogenic (recessive)" ""
"0000767002" "0" "70" "1" "94577093" "94577093" "subst" "8.12394E-6" "01695" "ABCA4_000147" "g.94577093G>A" "" "{PMID:Bertelsen 2014:24713488}" "" "c.203C>T p.P68L" "" "Unknown" "" "" "0" "" "" "g.94111537G>A" "" "likely pathogenic (recessive)" ""
"0000767003" "0" "90" "1" "94564442" "94564454" "del" "0" "01695" "ABCA4_000377" "g.94564442_94564454del" "" "{PMID:Bertelsen 2014:24713488}" "" "c.666_678del p.K223_R226delfs" "" "Unknown" "" "" "0" "" "" "g.94098886_94098898del" "" "pathogenic (recessive)" ""
"0000767004" "0" "90" "1" "94506960" "94506960" "subst" "0" "01695" "ABCA4_000629" "g.94506960T>C" "" "{PMID:Bertelsen 2014:24713488}" "" "c.3329-2A>G Aberrant splicing" "" "Unknown" "" "" "0" "" "" "g.94041404T>C" "" "pathogenic (recessive)" ""
"0000767005" "0" "90" "1" "94564442" "94564454" "del" "0" "01695" "ABCA4_000377" "g.94564442_94564454del" "" "{PMID:Bertelsen 2014:24713488}" "" "c.666_678del p.K223_R226delfs" "" "Unknown" "" "" "0" "" "" "g.94098886_94098898del" "" "pathogenic (recessive)" ""
"0000767006" "3" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Bertelsen 2014:24713488}" "" "c.2588G>C p.G863A" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000767007" "0" "70" "1" "94522239" "94522239" "subst" "2.03305E-5" "01695" "ABCA4_000736" "g.94522239A>T" "" "{PMID:Bertelsen 2014:24713488}" "" "c.2300T>A p.V767D" "" "Unknown" "" "" "0" "" "" "g.94056683A>T" "" "likely pathogenic (recessive)" ""
"0000767008" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sisk 2014:24743636}" "" "Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000767009" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Sisk 2014:24743636}" "" "Val256Val c768G.T" "" "Unknown" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000767010" "0" "90" "1" "94506884" "94506884" "subst" "0" "01695" "ABCA4_001903" "g.94506884G>A" "" "{PMID:Sisk 2014:24743636}" "" "Gln 1135 Stop" "" "Unknown" "" "" "0" "" "" "g.94041328G>A" "" "pathogenic (recessive)" ""
"0000767011" "0" "90" "1" "94506884" "94506884" "subst" "0" "01695" "ABCA4_001903" "g.94506884G>A" "" "{PMID:Sisk 2014:24743636}" "" "Gln 1135 Stop" "" "Unknown" "" "" "0" "" "" "g.94041328G>A" "" "pathogenic (recessive)" ""
"0000767012" "0" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "" "{PMID:Sisk 2014:24743636}" "" "C1490Y" "" "Unknown" "" "" "0" "" "" "g.94029515C>T" "" "likely pathogenic (recessive)" ""
"0000767013" "0" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "" "{PMID:Sisk 2014:24743636}" "" "C1490Y" "" "Unknown" "" "" "0" "" "" "g.94029515C>T" "" "likely pathogenic (recessive)" ""
"0000767014" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sisk 2014:24743636}" "" "Gly1961Glu" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000767015" "11" "70" "1" "94480241" "94480241" "subst" "7.71705E-5" "01695" "ABCA4_000446" "g.94480241G>A" "" "{PMID:Zhang 2014:24763286}" "" "c.5318C>T" "" "Unknown" "" "" "0" "" "" "g.94014685G>A" "" "likely pathogenic (recessive)" ""
"0000767016" "11" "70" "1" "94480241" "94480241" "subst" "7.71705E-5" "01695" "ABCA4_000446" "g.94480241G>A" "" "{PMID:Zhang 2014:24763286}" "" "c.5318C>T" "" "Unknown" "" "" "0" "" "" "g.94014685G>A" "" "likely pathogenic (recessive)" ""
"0000767017" "11" "70" "1" "94471032" "94471032" "subst" "1.62553E-5" "01695" "ABCA4_000792" "g.94471032G>A" "" "{PMID:Zhang 2014:24763286}" "" "c.6112C>T" "" "Unknown" "" "" "0" "" "" "g.94005476G>A" "" "likely pathogenic (recessive)" ""
"0000767018" "11" "70" "1" "94471032" "94471032" "subst" "1.62553E-5" "01695" "ABCA4_000792" "g.94471032G>A" "" "{PMID:Zhang 2014:24763286}" "" "c.6112C>T" "" "Unknown" "" "" "0" "" "" "g.94005476G>A" "" "likely pathogenic (recessive)" ""
"0000767019" "3" "90" "1" "94528251" "94528251" "subst" "2.84824E-5" "01695" "ABCA4_000281" "g.94528251C>T" "" "{PMID:Zhang 2014:24763286}" "" "c.1819G>A" "" "Unknown" "" "" "0" "" "" "g.94062695C>T" "" "pathogenic (recessive)" ""
"0000767020" "11" "70" "1" "94471049" "94471049" "subst" "0" "01695" "ABCA4_000795" "g.94471049T>C" "" "{PMID:Zhang 2014:24763286}" "" "c.6095A>G" "" "Unknown" "" "" "0" "" "" "g.94005493T>C" "" "likely pathogenic (recessive)" ""
"0000767021" "3" "90" "1" "94471056" "94471056" "subst" "2.84398E-5" "01695" "ABCA4_000050" "g.94471056G>A" "" "{PMID:Watson 2014:25133751}" "" "NM_000350.2:c.6088C.T p.Arg2030*" "" "Unknown" "yes" "" "0" "" "" "g.94005500G>A" "" "pathogenic (recessive)" ""
"0000767022" "3" "90" "1" "94471056" "94471056" "subst" "2.84398E-5" "01695" "ABCA4_000050" "g.94471056G>A" "" "{PMID:Watson 2014:25133751}" "" "NM_000350.2:c.6088C.T p.Arg2030*" "no variant 2nd chromosome" "Unknown" "yes" "" "0" "" "" "g.94005500G>A" "" "pathogenic (recessive)" ""
"0000767023" "3" "90" "1" "94471056" "94471056" "subst" "2.84398E-5" "01695" "ABCA4_000050" "g.94471056G>A" "" "{PMID:Watson 2014:25133751}" "" "NM_000350.2:c.6088C.T p.Arg2030*" "no variant 2nd chromosome" "Unknown" "yes" "" "0" "" "" "g.94005500G>A" "" "pathogenic (recessive)" ""
"0000767024" "3" "90" "1" "94508316" "94508316" "subst" "0" "01695" "ABCA4_000053" "g.94508316C>G" "" "{PMID:Watson 2014:25133751}" "" "NM_000350.2:c.3328+1G.C p.?" "" "Unknown" "yes" "" "0" "" "" "g.94042760C>G" "" "pathogenic (recessive)" ""
"0000767025" "3" "90" "1" "94508316" "94508316" "subst" "0" "01695" "ABCA4_000053" "g.94508316C>G" "" "{PMID:Watson 2014:25133751}" "" "NM_000350.2:c.3328+1G.C p.?" "" "Unknown" "yes" "" "0" "" "" "g.94042760C>G" "" "pathogenic (recessive)" ""
"0000767026" "3" "90" "1" "94508316" "94508316" "subst" "0" "01695" "ABCA4_000053" "g.94508316C>G" "" "{PMID:Watson 2014:25133751}" "" "NM_000350.2:c.3328+1G.C p.?" "" "Unknown" "yes" "" "0" "" "" "g.94042760C>G" "" "pathogenic (recessive)" ""
"0000767027" "1" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Lee 2014:25139735}" "" "p.P1380L" "" "Unknown" "yes" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000767028" "1" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Lee 2014:25139735}" "" "p.P1380L" "" "Unknown" "yes" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000767029" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Lee 2014:25139735}" "" "p.[L541P;A1038V]" "" "Unknown" "yes" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000767030" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Lee 2014:25139735}" "" "p.[L541P;A1038V]" "" "Unknown" "yes" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000767031" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Lee 2014:25139735}" "" "p.[L541P;A1038V]" "" "Unknown" "yes" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000767032" "1" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Lee 2014:25139735}" "" "p.P1380L" "" "Unknown" "yes" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000767033" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Lee 2014:25139735}" "" "p.[L541P;A1038V]" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000767034" "1" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Lee 2014:25139735}" "" "p.G863A" "" "Unknown" "yes" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000767035" "1" "70" "1" "94486896" "94486896" "subst" "3.65562E-5" "01695" "ABCA4_000085" "g.94486896G>A" "" "{PMID:Lee 2014:25139735}" "" "p.R1640W" "no variant 2nd chromosome" "Unknown" "yes" "" "0" "" "" "g.94021340G>A" "" "likely pathogenic (recessive)" ""
"0000767036" "1" "70" "1" "94520793" "94520793" "subst" "8.13292E-6" "01695" "ABCA4_000723" "g.94520793A>T" "" "{PMID:Lee 2014:25139735}" "" "p.W821R" "" "Unknown" "yes" "" "0" "" "" "g.94055237A>T" "" "likely pathogenic (recessive)" ""
"0000767037" "1" "90" "1" "94546248" "94546248" "del" "2.03666E-5" "01695" "ABCA4_000352" "g.94546248del" "" "{PMID:Lee 2014:25139735}" "" "c.885del" "" "Unknown" "yes" "" "0" "" "" "g.94080692del" "" "pathogenic (recessive)" ""
"0000767038" "1" "70" "1" "94480241" "94480241" "subst" "7.71705E-5" "01695" "ABCA4_000446" "g.94480241G>A" "" "{PMID:Lee 2014:25139735}" "" "p.A1773V" "" "Unknown" "yes" "" "0" "" "" "g.94014685G>A" "" "likely pathogenic (recessive)" ""
"0000767039" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Bonilha 2014:25265374}{PMID:Edwards 2020:32692840}" "" "p.Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000767040" "1" "90" "1" "94526296" "94526296" "subst" "1.64555E-5" "01695" "ABCA4_000768" "g.94526296G>A" "" "{PMID:Fujinami 2015:25312043}" "" "p.[Arg653Cys];[Arg2030*]" "" "Unknown" "yes" "" "0" "" "" "g.94060740G>A" "" "pathogenic (recessive)" ""
"0000767041" "3" "90" "1" "94470996" "94470996" "subst" "0" "01695" "ABCA4_001615" "g.94470996C>T" "" "{PMID:Fujinami 2015:25312043}" "" "c.[6479+1G>A];[6479+1G>A]" "" "Unknown" "yes" "" "0" "" "" "g.94005440C>T" "" "pathogenic (recessive)" ""
"0000767042" "3" "90" "1" "94514455" "94514455" "del" "0" "01695" "ABCA4_000699" "g.94514455del" "" "{PMID:Fujinami 2015:25312043}" "" "p.[Glu905fs];[Glu905fs]" "" "Unknown" "" "" "0" "" "" "g.94048899del" "" "pathogenic (recessive)" ""
"0000767043" "1" "90" "1" "94508356" "94508356" "subst" "0" "01695" "ABCA4_000635" "g.94508356T>A" "" "{PMID:Fujinami 2015:25312043}" "" "p.[Arg1097*];c.[5196+1G>A]" "" "Unknown" "yes" "" "0" "" "" "g.94042800T>A" "" "pathogenic (recessive)" ""
"0000767044" "1" "90" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Fujinami 2015:25312043}" "" "p.[Arg212Cys];c.[5461-10T>C]" "" "Unknown" "yes" "" "0" "" "" "g.94098928G>A" "" "pathogenic (recessive)" ""
"0000767045" "3" "90" "1" "94509001" "94509001" "subst" "0" "01695" "ABCA4_001405" "g.94509001A>C" "" "{PMID:Fujinami 2015:25312043}" "" "p.[Tyr1027*];[Tyr1027*]" "" "Unknown" "" "" "0" "" "" "g.94043445A>C" "" "pathogenic (recessive)" ""
"0000767046" "1" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "" "{PMID:Fujinami 2015:25312043}" "" "p.[Cys1490Tyr];c.[5461-10T>C]" "" "Unknown" "yes" "" "0" "" "" "g.94029515C>T" "" "likely pathogenic (recessive)" ""
"0000767047" "1" "90" "1" "94508386" "94508386" "subst" "1.62443E-5" "01695" "ABCA4_000642" "g.94508386C>T" "" "{PMID:Fujinami 2015:25312043}" "" "p.[Glu1087Lys];c.[5461-10T>C]" "" "Unknown" "yes" "" "0" "" "" "g.94042830C>T" "" "pathogenic (recessive)" ""
"0000767048" "1" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Fujinami 2015:25312043}" "" "p.[Arg1108Cys];[Cys1490Tyr]" "" "Unknown" "yes" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000767049" "1" "90" "1" "94528871" "94528871" "subst" "0" "01695" "ABCA4_001410" "g.94528871G>T" "" "{PMID:Fujinami 2015:25312043}" "" "p.Cys519*" "no variant 2nd chromosome" "Unknown" "yes" "" "0" "" "" "g.94063315G>T" "" "pathogenic (recessive)" ""
"0000767050" "1" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Fujinami 2015:25312043}" "" "p.[Arg1108Cys];[Thr1526Met]" "" "Unknown" "yes" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000767051" "1" "70" "1" "94496589" "94496589" "subst" "0" "01695" "ABCA4_000568" "g.94496589G>A" "" "{PMID:Fujinami 2015:25312043}" "" "p.[His1406Tyr];[Trp1408Arg;Arg1640Trp]" "" "Unknown" "yes" "" "0" "" "" "g.94031033G>A" "" "likely pathogenic (recessive)" ""
"0000767052" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Fujinami 2015:25312043}" "" "c.5461-10T>C" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000767053" "1" "70" "1" "94512532" "94512532" "subst" "0" "01695" "ABCA4_000691" "g.94512532T>G" "" "{PMID:Fujinami 2015:25312043}" "" "p.[Tyr954Ser];c.[5461-10T>C]" "" "Unknown" "yes" "" "0" "" "" "g.94046976T>G" "" "likely pathogenic (recessive)" ""
"0000767054" "1" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Fujinami 2015:25312043}" "" "c.[768G>T];p.[Cys1455Arg]" "" "Unknown" "yes" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000767055" "1" "70" "1" "94528164" "94528164" "subst" "0" "01695" "ABCA4_001311" "g.94528164G>T" "" "{PMID:Fujinami 2015:25312043}" "" "p.[Gln636*];c.[5461-10T>C]" "" "Unknown" "yes" "" "0" "" "" "g.94062608G>T" "" "likely pathogenic (recessive)" ""
"0000767056" "1" "90" "1" "94586581" "94586581" "dup" "0" "01695" "ABCA4_002253" "g.94586581dup" "" "{PMID:Fujinami 2015:25312043}" "" "p.[Gln8fs];c.[5461-10T>C]" "" "Unknown" "yes" "" "0" "" "" "g.94121025dup" "" "pathogenic (recessive)" ""
"0000767057" "1" "90" "1" "94544185" "94544185" "subst" "8.12137E-6" "01695" "ABCA4_000177" "g.94544185C>T" "" "{PMID:Fujinami 2015:25312043}" "" "p.[Trp439*];[Pro1380Leu]" "" "Unknown" "yes" "" "0" "" "" "g.94078629C>T" "" "pathogenic (recessive)" ""
"0000767058" "1" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Fujinami 2015:25312043}" "" "c.[5461-10T>C];p.[Leu2027Phe]" "" "Unknown" "yes" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000767059" "1" "70" "1" "94495177" "94495177" "subst" "1.22342E-5" "01695" "ABCA4_000023" "g.94495177A>G" "" "{PMID:Fujinami 2015:25312043}" "" "p.[Cys1455Arg];c.[5714+5G>A]" "" "Unknown" "yes" "" "0" "" "" "g.94029621A>G" "" "likely pathogenic (recessive)" ""
"0000767060" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Fujinami 2015:25312043}" "" "p.[Gly863Ala(;)Glu1122Lys(;)Arg2030*]" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000767061" "1" "70" "1" "94528780" "94528780" "subst" "4.06171E-6" "01695" "ABCA4_000299" "g.94528780C>T" "" "{PMID:Fujinami 2015:25312043}" "" "p.[Gly550Arg];[Cys2150Tyr]" "" "Unknown" "yes" "" "0" "" "" "g.94063224C>T" "" "likely pathogenic (recessive)" ""
"0000767062" "1" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Fujinami 2015:25312043}" "" "p.[Gly863Ala];[Thr1721fs]" "" "Unknown" "yes" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000767063" "3" "70" "1" "94509018" "94509018" "subst" "8.12869E-6" "01695" "ABCA4_000659" "g.94509018C>T" "" "{PMID:Fujinami 2015:25312043}" "" "p.[Glu1022Lys];[Glu1022Lys]" "" "Unknown" "yes" "" "0" "" "" "g.94043462C>T" "" "likely pathogenic (recessive)" ""
"0000767064" "1" "90" "1" "94528668" "94528668" "subst" "0" "01695" "ABCA4_001313" "g.94528668C>T" "" "{PMID:Fujinami 2015:25312043}" "" "p.[Arg587Lys];[Trp855*]" "" "Unknown" "yes" "" "0" "" "" "g.94063112C>T" "" "pathogenic (recessive)" ""
"0000767065" "1" "90" "1" "94528167" "94528167" "subst" "0" "01695" "ABCA4_000268" "g.94528167G>A" "" "{PMID:Fujinami 2015:25312043}" "" "p.[Gln636*];c.[6817-2A>C]" "" "Unknown" "yes" "" "0" "" "" "g.94062611G>A" "" "pathogenic (recessive)" ""
"0000767066" "1" "90" "1" "94509026" "94509026" "subst" "4.06497E-5" "01695" "ABCA4_000660" "g.94509026G>A" "" "{PMID:Fujinami 2015:25312043}" "" "p.[Thr1019Met];[Gly1961Glu]" "" "Unknown" "yes" "" "0" "" "" "g.94043470G>A" "" "pathogenic (recessive)" ""
"0000767067" "1" "90" "1" "94486794" "94486794" "subst" "0" "01695" "ABCA4_000478" "g.94486794A>G" "" "{PMID:Fujinami 2015:25312043}" "" "c.[5018+2T>C];p.[Ser2072Asn]" "" "Unknown" "yes" "" "0" "" "" "g.94021238A>G" "" "pathogenic (recessive)" ""
"0000767068" "1" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Fujinami 2015:25312043}" "" "p.[Gly1961Glu];c.[6729+4_6729+18del]" "" "Unknown" "yes" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000767069" "1" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Fujinami 2015:25312043}" "" "p.[Pro1380Leu]; [Tyr1770Asp]" "" "Unknown" "yes" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000767070" "3" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Fujinami 2015:25312043}" "" "p.Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000767071" "1" "90" "1" "94526296" "94526296" "subst" "1.64555E-5" "01695" "ABCA4_000768" "g.94526296G>A" "" "{PMID:Fujinami 2015:25312043}" "" "p.[Arg653Cys];[Pro1380Leu]" "" "Unknown" "yes" "" "0" "" "" "g.94060740G>A" "" "pathogenic (recessive)" ""
"0000767072" "0" "70" "1" "94543269" "94543269" "subst" "0.000179087" "01695" "ABCA4_000307" "g.94543269G>A" "" "{PMID:Fujinami 2015:25312043}" "" "p.[Arg511Cys(;)Ala1739dup(;)Gly1961Glu]" "" "Unknown" "" "" "0" "" "" "g.94077713G>A" "" "likely pathogenic (recessive)" ""
"0000767073" "1" "70" "1" "94508448" "94508448" "subst" "4.06147E-6" "01695" "ABCA4_001941" "g.94508448A>C" "" "{PMID:Fujinami 2015:25312043}" "" "p.[Met1066Arg];[Cys1490Tyr]" "" "Unknown" "yes" "" "0" "" "" "g.94042892A>C" "" "likely pathogenic (recessive)" ""
"0000767074" "1" "70" "1" "94528671" "94528671" "subst" "0" "01695" "ABCA4_001409" "g.94528671T>C" "" "{PMID:Fujinami 2015:25312043}" "" "p.[Asp586Gly];[Gly1961Glu]" "" "Unknown" "yes" "" "0" "" "" "g.94063115T>C" "" "likely pathogenic (recessive)" ""
"0000767075" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Fujinami 2015:25312043}" "" "p.Leu2027Phe" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic (recessive)" ""
"0000767076" "1" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Fujinami 2015:25312043}" "" "c.[5461-10T>C];p.[Leu2027Phe]" "" "Unknown" "yes" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000767077" "1" "70" "1" "94506902" "94506902" "subst" "1.21834E-5" "01695" "ABCA4_000623" "g.94506902G>A" "" "{PMID:Fujinami 2015:25312043}" "" "p.[Arg1129Cys];[Cys1490Tyr]" "" "Unknown" "yes" "" "0" "" "" "g.94041346G>A" "" "likely pathogenic (recessive)" ""
"0000767078" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Duncker 2014:25342616}" "" "p.G1961E" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000767079" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Duncker 2014:25342616}" "" "p.[L541P;A1038V]" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000767080" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Duncker 2014:25342616}" "" "p.[L541P;A1038V]" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000767081" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Duncker 2014:25342616}" "" "p.G1961E" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000767082" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Duncker 2014:25342616}" "" "p.G1961E" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000767083" "0" "70" "1" "94490567" "94490567" "subst" "5.68528E-5" "01695" "ABCA4_000026" "g.94490567G>A" "" "{PMID:Duncker 2014:25342616}" "" "p.T1526M" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94025011G>A" "" "likely pathogenic (recessive)" ""
"0000767084" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Duncker 2014:25342616}" "" "p.G1961E" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000767085" "0" "90" "1" "94564548" "94564548" "subst" "0" "01695" "ABCA4_000197" "g.94564548C>A" "" "{PMID:Duncker 2014:25342616}" "" "c.571-1G>T" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94098992C>A" "" "pathogenic (recessive)" ""
"0000767086" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Duncker 2014:25342616}{PMID:Chen 2019:31015497}" "" "p.G1961E" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000767087" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Duncker 2014:25342616}" "" "p.[L541P;A1038V]" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000767088" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Duncker 2014:25342616}" "" "p.G1961E" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000767089" "0" "90" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Duncker 2014:25342616}" "" "p.R212C" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94098928G>A" "" "pathogenic (recessive)" ""
"0000767090" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Duncker 2014:25342616}" "" "p.G1961E" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000767091" "0" "90" "1" "94497564" "94497564" "subst" "1.64383E-5" "01695" "ABCA4_000091" "g.94497564G>A" "" "{PMID:Duncker 2014:25342616}" "" "p.R1300*" "" "Unknown" "" "" "0" "" "" "g.94032008G>A" "" "pathogenic (recessive)" ""
"0000767092" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Duncker 2014:25342616}" "" "p.G1961E" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000767093" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Duncker 2014:25342616}" "" "p.G1961E" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000767094" "0" "70" "1" "94520793" "94520793" "subst" "8.13292E-6" "01695" "ABCA4_000723" "g.94520793A>T" "" "{PMID:Duncker 2014:25342616}" "" "p.W821R" "" "Unknown" "" "" "0" "" "" "g.94055237A>T" "" "likely pathogenic (recessive)" ""
"0000767095" "0" "90" "1" "94577046" "94577049" "dup" "0" "01695" "ABCA4_000227" "g.94577046_94577049dup" "" "{PMID:Duncker 2014:25342616}" "" "c.250_251insCAAA" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94111490_94111493dup" "" "pathogenic (recessive)" ""
"0000767096" "0" "50" "1" "94480164" "94480164" "subst" "0" "01695" "ABCA4_000440" "g.94480164T>C" "" "{PMID:Duncker 2014:25342616}" "" "p.N1799D" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94014608T>C" "" "VUS" ""
"0000767097" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Duncker 2014:25342616}" "" "p.R1108C" "" "Unknown" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000767098" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Duncker 2014:25342616}" "" "p.G1961E" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000767099" "0" "70" "1" "94467467" "94467467" "subst" "4.06164E-6" "01695" "ABCA4_000780" "g.94467467G>A" "" "{PMID:Duncker 2014:25342616}" "" "p.R2077W" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94001911G>A" "" "likely pathogenic (recessive)" ""
"0000767100" "11" "70" "1" "94577093" "94577093" "subst" "8.12394E-6" "01695" "ABCA4_000147" "g.94577093G>A" "" "{PMID:Sodi 2008:25389627}" "" "P68L" "" "Unknown" "" "" "0" "" "" "g.94111537G>A" "" "likely pathogenic (recessive)" ""
"0000767101" "11" "70" "1" "94577093" "94577093" "subst" "8.12394E-6" "01695" "ABCA4_000147" "g.94577093G>A" "" "{PMID:Sodi 2008:25389627}" "" "P68L" "" "Unknown" "" "" "0" "" "" "g.94111537G>A" "" "likely pathogenic (recessive)" ""
"0000767102" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Teussink 2015:25681002}" "" "c.768G>T" "" "Unknown" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000767103" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Teussink 2015:25681002}" "" "c.2588G>C c.2828G>A" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000767104" "0" "70" "1" "94506952" "94506952" "subst" "0" "01695" "ABCA4_000628" "g.94506952G>T" "" "{PMID:Teussink 2015:25681002}" "" "c.3335C>A" "" "Unknown" "" "" "0" "" "" "g.94041396G>T" "" "likely pathogenic (recessive)" ""
"0000767105" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Teussink 2015:25681002}" "" "c.2588G>C" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000767106" "0" "50" "1" "94476495" "94476495" "subst" "0" "01695" "ABCA4_000424" "g.94476495A>G" "" "{PMID:Teussink 2015:25681002}" "" "c.IVS39> -10T>C" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94010939A>G" "" "VUS" ""
"0000767107" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Pang 2015:25707054}" "" "p.Arg602Trp:c.1804C > T" "" "Unknown" "" "" "0" "" "" "g.94062710G>A" "" "pathogenic (recessive)" ""
"0000767108" "0" "90" "1" "94517249" "94517249" "dup" "0" "01695" "ABCA4_002007" "g.94517249dup" "" "{PMID:Arai 2015:26161267}" "" "c.2593 2594insT" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94051693dup" "" "pathogenic (recessive)" ""
"0000767109" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Sparrow 2015:26230768}" "" "p.[L541P;A1038V]" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000767110" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Sparrow 2015:26230768}" "" "p.[L541P;A1038V];" "" "Unknown" "yes" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000767111" "1" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "" "{PMID:Sparrow 2015:26230768}" "" "p.[C1490Y];" "" "Unknown" "yes" "" "0" "" "" "g.94029515C>T" "" "likely pathogenic (recessive)" ""
"0000767112" "1" "70" "1" "94510164" "94510164" "subst" "1.62441E-5" "01695" "ABCA4_000144" "g.94510164C>T" "" "{PMID:Sparrow 2015:26230768}" "" "c.[3050+5G>A];" "" "Unknown" "yes" "" "0" "" "" "g.94044608C>T" "" "likely pathogenic (recessive)" ""
"0000767113" "0" "90" "1" "94510248" "94510248" "subst" "0.000544123" "01695" "ABCA4_000107" "g.94510248C>G" "" "{PMID:Sparrow 2015:26230768}" "" "p.[G991R];" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94044692C>G" "" "pathogenic (recessive)" ""
"0000767114" "0" "50" "1" "94480164" "94480164" "subst" "0" "01695" "ABCA4_000440" "g.94480164T>C" "" "{PMID:Sparrow 2015:26230768}" "" "p.[N1799D]" "no variant 2nd chromosome; no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94014608T>C" "" "VUS" ""
"0000767115" "0" "70" "1" "94467467" "94467467" "subst" "4.06164E-6" "01695" "ABCA4_000780" "g.94467467G>A" "" "{PMID:Sparrow 2015:26230768}" "" "p.[R2077W]" "no variant 2nd chromosome; no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94001911G>A" "" "likely pathogenic (recessive)" ""
"0000767116" "1" "70" "1" "94577093" "94577093" "subst" "0" "01695" "ABCA4_000178" "g.94577093G>C" "" "{PMID:Cideciyan 2015:26377081}" "" "c.203C>G p.Pro68Arg" "" "Unknown" "yes" "" "0" "" "" "g.94111537G>C" "" "likely pathogenic (recessive)" ""
"0000767117" "0" "50" "1" "94564460" "94564460" "subst" "8.1355E-6" "01695" "ABCA4_000056" "g.94564460G>A" "" "{PMID:Cideciyan 2015:26377081}" "" "c.658C>T p.Arg220Cys" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94098904G>A" "" "VUS" ""
"0000767118" "1" "90" "1" "94546047" "94546047" "subst" "0" "01695" "ABCA4_000150" "g.94546047A>T" "" "{PMID:Cideciyan 2015:26377081}" "" "c.1086T>A p.Tyr362Stop" "" "Unknown" "yes" "" "0" "" "" "g.94080491A>T" "" "pathogenic (recessive)" ""
"0000767119" "1" "70" "1" "94528248" "94528248" "subst" "1.22148E-5" "01695" "ABCA4_000279" "g.94528248A>T" "" "{PMID:Cideciyan 2015:26377081}" "" "c.1822T>A p.Phe608Ile" "" "Unknown" "yes" "" "0" "" "" "g.94062692A>T" "" "likely pathogenic (recessive)" ""
"0000767120" "1" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Cideciyan 2015:26377081}" "" "c.2588G>C p.Gly863Ala" "" "Unknown" "yes" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000767121" "1" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Cideciyan 2015:26377081}" "" "c.2588G>C p.Gly863Ala" "" "Unknown" "yes" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000767122" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Cideciyan 2015:26377081}" "" "c.2588G>C p.Gly863Ala" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000767123" "1" "90" "1" "94510253" "94510253" "subst" "0.000247694" "01695" "ABCA4_000108" "g.94510253A>G" "" "{PMID:Cideciyan 2015:26377081}" "" "c.2966T>C p.Val989Ala" "" "Unknown" "yes" "" "0" "" "" "g.94044697A>G" "" "pathogenic (recessive)" ""
"0000767124" "1" "90" "1" "94510253" "94510253" "subst" "0.000247694" "01695" "ABCA4_000108" "g.94510253A>G" "" "{PMID:Cideciyan 2015:26377081}" "" "c.2966T>C p.Val989Ala" "" "Unknown" "yes" "" "0" "" "" "g.94044697A>G" "" "pathogenic (recessive)" ""
"0000767125" "1" "90" "1" "94510253" "94510253" "subst" "0.000247694" "01695" "ABCA4_000108" "g.94510253A>G" "" "{PMID:Cideciyan 2015:26377081}" "" "c.2966T>C p.Val989Ala" "" "Unknown" "yes" "" "0" "" "" "g.94044697A>G" "" "pathogenic (recessive)" ""
"0000767126" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Cideciyan 2015:26377081}" "" "c.1622T>C;c.3113C>T p.Leu541Pro;p.Ala1038Val" "" "Unknown" "yes" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000767127" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Cideciyan 2015:26377081}" "" "c.1622T>C;c.3113C>T p.Leu541Pro;p.Ala1038Val" "" "Unknown" "yes" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000767128" "1" "90" "1" "94508353" "94508353" "subst" "2.8431E-5" "01695" "ABCA4_000141" "g.94508353G>A" "" "{PMID:Cideciyan 2015:26377081}" "" "c.3292C>T p.Arg1098Cys" "" "Unknown" "yes" "" "0" "" "" "g.94042797G>A" "" "pathogenic (recessive)" ""
"0000767129" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Cideciyan 2015:26377081}" "" "c.3386G>T p.Arg1129Leu" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000767130" "0" "50" "1" "94508871" "94508871" "subst" "0" "01695" "ABCA4_001944" "g.94508871T>C" "" "{PMID:Cideciyan 2015:26377081}" "" "c.3190+21A>G -" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94043315T>C" "" "VUS" ""
"0000767131" "1" "70" "1" "94548907" "94548998" "" "0" "01695" "ABCA4_002593" "g.(94546275_94548907)_(94548998_94564349)del" "" "{PMID:Cideciyan 2015:26377081}" "" "deletionof exon 7" "" "Unknown" "yes" "" "0" "" "" "g.(94080719_94083351)_(94083442_94098793)del" "" "likely pathogenic (recessive)" ""
"0000767132" "1" "70" "1" "94548907" "94548998" "" "0" "01695" "ABCA4_002593" "g.(94546275_94548907)_(94548998_94564349)del" "" "{PMID:Cideciyan 2015:26377081}" "" "deletionof exon 7" "" "Unknown" "yes" "" "0" "" "" "g.(94080719_94083351)_(94083442_94098793)del" "" "likely pathogenic (recessive)" ""
"0000767133" "0" "90" "1" "94481294" "94481294" "subst" "0" "01695" "ABCA4_000110" "g.94481294C>T" "" "{PMID:Cideciyan 2015:26377081}{PMID:Cideciyan 2012:22247458}" "" "c.5312+1G>A -" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94015738C>T" "" "pathogenic (recessive)" ""
"0000767134" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cideciyan 2015:26377081}" "" "c.5461-10T>C -" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000767135" "1" "90" "1" "94467483" "94467483" "subst" "0" "01695" "ABCA4_001601" "g.94467483G>C" "" "{PMID:Cideciyan 2015:26377081}" "" "c.6213C>G p.Tyr2071Stop" "" "Unknown" "yes" "" "0" "" "" "g.94001927G>C" "" "pathogenic (recessive)" ""
"0000767136" "0" "90" "1" "94577046" "94577049" "dup" "0" "01695" "ABCA4_000227" "g.94577046_94577049dup" "" "{PMID:Olivo 2015:26574798}" "" "250insCAAA" "" "Unknown" "" "" "0" "" "" "g.94111490_94111493dup" "" "pathogenic (recessive)" ""
"0000767137" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Olivo 2015:26574798}" "" "L541P/A1038V" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000767138" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Olivo 2015:26574798}" "" "L541P/A1038V" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000767139" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Olivo 2015:26574798}" "" "G1961E" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000767140" "0" "70" "1" "94577010" "94577010" "subst" "1.22004E-5" "01695" "ABCA4_000224" "g.94577010T>C" "" "{PMID:Olivo 2015:26574798}{PMID:Melillo 2018:29625472}{PMID:Melillo 2020:32821503}" "" "N96D" "" "Unknown" "" "" "0" "" "" "g.94111454T>C" "" "likely pathogenic (recessive)" ""
"0000767141" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Olivo 2015:26574798}" "" "G1961E" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000767142" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Olivo 2015:26574798}" "" "L541P/A1038V" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000767143" "0" "50" "1" "94568686" "94568686" "subst" "0.00258122" "01695" "ABCA4_000212" "g.94568686C>T" "" "{PMID:Olivo 2015:26574798}" "" "R152Q" "" "Unknown" "" "" "0" "" "" "g.94103130C>T" "" "VUS" ""
"0000767144" "0" "70" "1" "94577117" "94577117" "subst" "1.62472E-5" "01695" "ABCA4_000237" "g.94577117G>A" "" "{PMID:Olivo 2015:26574798}{PMID:Melillo 2018:29625472}{PMID:Melillo 2020:32821503}" "" "A60V" "" "Unknown" "" "" "0" "" "" "g.94111561G>A" "" "likely pathogenic (recessive)" ""
"0000767145" "0" "70" "1" "94526184" "94526184" "subst" "0" "01695" "ABCA4_000755" "g.94526184C>A" "" "{PMID:Olivo 2015:26574798}{PMID:Melillo 2018:29625472}{PMID:Melillo 2020:32821503}" "" "G690V" "" "Unknown" "" "" "0" "" "" "g.94060628C>A" "" "likely pathogenic (recessive)" ""
"0000767146" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Olivo 2015:26574798}" "" "G1961E" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000767147" "0" "70" "1" "94528226" "94528226" "subst" "0" "01695" "ABCA4_002077" "g.94528226A>G" "" "{PMID:Olivo 2015:26574798}{PMID:Melillo 2018:29625472}{PMID:Melillo 2020:32821503}" "" "V615A" "" "Unknown" "" "" "0" "" "" "g.94062670A>G" "" "likely pathogenic (recessive)" ""
"0000767148" "0" "70" "1" "94577010" "94577010" "subst" "1.22004E-5" "01695" "ABCA4_000224" "g.94577010T>C" "" "{PMID:Olivo 2015:26574798}{PMID:Melillo 2018:29625472}" "" "N96D" "" "Unknown" "" "" "0" "" "" "g.94111454T>C" "" "likely pathogenic (recessive)" ""
"0000767149" "0" "90" "1" "94577046" "94577049" "dup" "0" "01695" "ABCA4_000227" "g.94577046_94577049dup" "" "{PMID:Olivo 2015:26574798}{PMID:Melillo 2018:29625472}{PMID:Melillo 2020:32821503}" "" "250insCAAA" "" "Unknown" "" "" "0" "" "" "g.94111490_94111493dup" "" "pathogenic (recessive)" ""
"0000767150" "0" "70" "1" "94495993" "94495994" "delins" "0" "01695" "ABCA4_001823" "g.94495993_94495994delinsTT" "" "{PMID:Olivo 2015:26574798}{PMID:Melillo 2018:29625472}{PMID:Melillo 2020:32821503}" "" "R1448K" "" "Unknown" "" "" "0" "" "" "g.94030437_94030438delinsTT" "" "likely pathogenic (recessive)" ""
"0000767151" "0" "90" "1" "94495001" "94495002" "ins" "0" "01695" "ABCA4_000531" "g.94495001_94495002insG" "" "{PMID:Olivo 2015:26574798}" "" "4538insC" "" "Unknown" "" "" "0" "" "" "g.94029445_94029446insG" "" "pathogenic (recessive)" ""
"0000767152" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Olivo 2015:26574798}{PMID:Melillo 2018:29625472}{PMID:Melillo 2020:32821503}" "" "G1961E" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000767153" "0" "70" "1" "94577010" "94577010" "subst" "1.22004E-5" "01695" "ABCA4_000224" "g.94577010T>C" "" "{PMID:Olivo 2015:26574798}{PMID:Melillo 2018:29625472}{PMID:Melillo 2020:32821503}" "" "N96D" "" "Unknown" "" "" "0" "" "" "g.94111454T>C" "" "likely pathogenic (recessive)" ""
"0000767154" "0" "90" "1" "94496571" "94496571" "subst" "4.06174E-6" "01695" "ABCA4_000111" "g.94496571G>A" "" "{PMID:Perez-Carro 2016:26806561}" "" "c.4234C > T" "" "Unknown" "" "" "0" "" "" "g.94031015G>A" "" "pathogenic (recessive)" ""
"0000767155" "0" "90" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Bernstein 2016:26909568}" "" "c.634C>T" "" "Unknown" "" "" "0" "" "" "g.94098928G>A" "" "pathogenic (recessive)" ""
"0000767156" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Bernstein 2016:26909568}" "" "R1108C" "" "Unknown" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000767157" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Bernstein 2016:26909568}" "" "P1380L" "" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000767158" "0" "90" "1" "94466615" "94466615" "subst" "0" "01695" "ABCA4_000836" "g.94466615C>T" "" "{PMID:Bernstein 2016:26909568}" "" "c.6329G>A" "" "Unknown" "" "" "0" "" "" "g.94001059C>T" "" "pathogenic (recessive)" ""
"0000767159" "0" "70" "1" "94487251" "94487251" "subst" "2.85679E-5" "01695" "ABCA4_000490" "g.94487251G>T" "" "{PMID:Bernstein 2016:26909568}" "" "c.4793C>A" "" "Unknown" "" "" "0" "" "" "g.94021695G>T" "" "likely pathogenic (recessive)" ""
"0000767160" "0" "50" "1" "94476804" "94476804" "subst" "1.22034E-5" "01695" "ABCA4_001676" "g.94476804C>T" "" "{PMID:Bernstein 2016:26909568}" "" "c.5584+14G>A" "" "Unknown" "" "" "0" "" "" "g.94011248C>T" "" "VUS" ""
"0000767161" "3" "90" "1" "94466426" "94466426" "subst" "1.62433E-5" "01695" "ABCA4_000124" "g.94466426G>A" "" "{PMID:Oishi 2016:26957898}" "" "c.6445C>T" "" "Unknown" "yes" "" "0" "" "" "g.94000870G>A" "" "pathogenic (recessive)" ""
"0000767162" "3" "90" "1" "94510168" "94510168" "subst" "0" "01695" "ABCA4_001525" "g.94510168C>T" "" "{PMID:Oishi 2016:26957898}" "" "c.3050+1G>A (homo)" "" "Unknown" "" "" "0" "" "" "g.94044612C>T" "" "pathogenic (recessive)" ""
"0000767163" "3" "90" "1" "94528666" "94528666" "subst" "0" "01695" "ABCA4_000289" "g.94528666A>C" "" "{PMID:Oishi 2016:26957898}" "" "c.1760+2T>G (homo)" "" "Unknown" "" "" "0" "" "" "g.94063110A>C" "" "pathogenic (recessive)" ""
"0000767164" "3" "90" "1" "94526296" "94526296" "subst" "1.64555E-5" "01695" "ABCA4_000768" "g.94526296G>A" "" "{PMID:Oishi 2016:26957898}" "" "c.1957C>T" "" "Unknown" "" "" "0" "" "" "g.94060740G>A" "" "pathogenic (recessive)" ""
"0000767165" "1" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Huang 2016:26992781}" "" "c.[1804C>T];[6592C>T]" "" "Unknown" "yes" "" "0" "" "" "g.94062710G>A" "" "pathogenic (recessive)" ""
"0000767166" "1" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Huang 2016:26992781}" "" "c.[1804C>T];[1795del]" "" "Unknown" "yes" "" "0" "" "" "g.94062710G>A" "" "pathogenic (recessive)" ""
"0000767167" "3" "90" "1" "94526199" "94526199" "del" "0" "01695" "ABCA4_001526" "g.94526199del" "" "{PMID:Huang 2016:26992781}" "" "c.[2055del];[2055del]" "" "Unknown" "yes" "" "0" "" "" "g.94060643del" "" "pathogenic (recessive)" ""
"0000767168" "1" "70" "1" "94528782" "94528782" "subst" "0" "01695" "ABCA4_001528" "g.94528782G>T" "" "{PMID:Huang 2016:26992781}" "" "c.[1646C>A];[4849-1C>G]" "" "Unknown" "yes" "" "0" "" "" "g.94063226G>T" "" "likely pathogenic (recessive)" ""
"0000767169" "1" "70" "1" "94509027" "94509027" "subst" "4.06478E-6" "01695" "ABCA4_000661" "g.94509027T>C" "" "{PMID:Huang 2016:26992781}" "" "c.[3055A>G];[4773+1C>A]" "" "Unknown" "yes" "" "0" "" "" "g.94043471T>C" "" "likely pathogenic (recessive)" ""
"0000767170" "0" "70" "1" "94586550" "94586550" "subst" "1.21864E-5" "01695" "ABCA4_000037" "g.94586550G>A" "" "{PMID:Tsipi 2016:27014590}" "" "p.Arg18Trp c.52C>T" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94120994G>A" "" "likely pathogenic (recessive)" ""
"0000767171" "0" "50" "1" "94514477" "94514477" "subst" "0.00118992" "01695" "ABCA4_000700" "g.94514477G>A" "" "{PMID:Tsipi 2016:27014590}" "" "p.Thr897Ile c.2690C>T" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94048921G>A" "" "VUS" ""
"0000767172" "0" "90" "1" "94473278" "94473278" "del" "3.25908E-5" "01695" "ABCA4_000392" "g.94473278del" "" "{PMID:Tsipi 2016:27014590}" "" "p.Val1973X c.5917delG" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94007722del" "" "pathogenic (recessive)" ""
"0000767173" "0" "50" "1" "94577140" "94577140" "subst" "0" "01695" "ABCA4_001520" "g.94577140A>G" "" "{PMID:Tsipi 2016:27014590}" "" "– c.161-5T>C" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94111584A>G" "" "VUS" ""
"0000767174" "1" "70" "1" "94466602" "94466602" "subst" "1.62472E-5" "01695" "ABCA4_000035" "g.94466602C>T" "" "{PMID:Tsipi 2016:27014590}" "" "p.Arg212Cys c.634C>T" "" "Unknown" "yes" "" "0" "" "" "g.94001046C>T" "" "likely pathogenic (recessive)" ""
"0000767175" "1" "70" "1" "94487251" "94487251" "subst" "2.85679E-5" "01695" "ABCA4_000490" "g.94487251G>T" "" "{PMID:Tsipi 2016:27014590}" "" "p.Ala1598Asp c.4793C>A" "" "Unknown" "yes" "" "0" "" "" "g.94021695G>T" "" "likely pathogenic (recessive)" ""
"0000767176" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Tsipi 2016:27014590}" "" "p.Leu541Pro c.1622T>C" "" "Unknown" "yes" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000767177" "1" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Tsipi 2016:27014590}" "" "– c.5714+5G>A" "" "Unknown" "yes" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000767178" "0" "70" "1" "94490571" "94490571" "subst" "0" "01695" "ABCA4_001519" "g.94490571G>C" "" "{PMID:Tsipi 2016:27014590}" "" "p.Leu1525Val c.4573C>G" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94025015G>C" "" "likely pathogenic (recessive)" ""
"0000767179" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Tsipi 2016:27014590}" "" "p.Leu541Pro c.1622T>C" "" "Unknown" "yes" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000767180" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Tsipi 2016:27014590}" "" "p.Leu541Pro c.1622T>C" "" "Unknown" "yes" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000767181" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Tsipi 2016:27014590}" "" "p.Leu541Pro c.1622T>C" "" "Unknown" "yes" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000767182" "0" "70" "1" "94508322" "94508322" "subst" "1.62513E-5" "01695" "ABCA4_000128" "g.94508322C>T" "" "{PMID:Tsipi 2016:27014590}" "" "p.Arg1108His c.3323G>A" "" "Unknown" "yes" "" "0" "" "" "g.94042766C>T" "" "likely pathogenic (recessive)" ""
"0000767183" "1" "50" "1" "94495021" "94495021" "subst" "0.000161713" "01695" "ABCA4_000538" "g.94495021C>T" "" "{PMID:Huckfeldt 2016:27030965}" "" "Gly1507Arg" "" "Unknown" "" "" "0" "" "" "g.94029465C>T" "" "VUS" ""
"0000767184" "10" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Huckfeldt 2016:27030965}" "" "Pro1380Leu" "" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000767185" "10" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Huckfeldt 2016:27030965}{PMID:Stone 2017:28559085}" "" "Pro1380Leu" "" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000767186" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Bravo-Gil 2016:27032803}" "" "c.3386G > T (*)" "" "Unknown" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000767187" "11" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Lee 2016:27367509}" "" "p.G1961E" "" "Unknown" "yes" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000767188" "11" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Lee 2016:27367509}" "" "p.G1961E" "" "Unknown" "yes" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000767189" "3" "90" "1" "94543338" "94543338" "subst" "0" "01695" "ABCA4_000109" "g.94543338C>A" "" "{PMID:Sundaramurthy 2016:27383656}" "" "c.1462G>T" "" "Unknown" "" "" "0" "" "" "g.94077782C>A" "" "pathogenic (recessive)" ""
"0000767190" "1" "70" "1" "94522239" "94522239" "subst" "2.03305E-5" "01695" "ABCA4_000736" "g.94522239A>T" "" "{PMID:Müller 2017:27414126}{PMID:Gliem 2020:32646556}" "" "E15 c.2300T>A (p.Val767Asp)" "" "Unknown" "yes" "" "0" "" "" "g.94056683A>T" "" "likely pathogenic (recessive)" ""
"0000767191" "1" "70" "1" "94577102" "94577102" "subst" "4.06161E-6" "01695" "ABCA4_000033" "g.94577102C>T" "" "{PMID:Müller 2017:27414126}{PMID:Gliem 2020:32646556}" "" "E3 c.194G>A (p.Gly65Glu)" "" "Unknown" "yes" "" "0" "" "" "g.94111546C>T" "" "likely pathogenic (recessive)" ""
"0000767192" "3" "90" "1" "94506894" "94506895" "delins" "0" "01695" "ABCA4_000621" "g.94506894_94506895delinsC" "" "{PMID:Fakin 2016:27583828}" "" "c.3392delCCinsG p.A1131fs" "" "Unknown" "" "" "0" "" "" "g.94041338_94041339delinsC" "" "pathogenic (recessive)" ""
"0000767193" "3" "90" "1" "94546248" "94546248" "del" "2.03666E-5" "01695" "ABCA4_000352" "g.94546248del" "" "{PMID:Fakin 2016:27583828}" "" "c.885delC p.D295fs" "" "Unknown" "" "" "0" "" "" "g.94080692del" "" "pathogenic (recessive)" ""
"0000767194" "3" "90" "1" "94463488" "94463488" "subst" "5.2803E-5" "01695" "ABCA4_000802" "g.94463488G>A" "" "{PMID:Fakin 2016:27583828}" "" "c.6658 C>T p.Q2220X" "" "Unknown" "" "" "0" "" "" "g.93997932G>A" "" "pathogenic (recessive)" ""
"0000767195" "3" "90" "1" "94463488" "94463488" "subst" "5.2803E-5" "01695" "ABCA4_000802" "g.94463488G>A" "" "{PMID:Fakin 2016:27583828}" "" "c.6658 C>T p.Q2220X" "" "Unknown" "" "" "0" "" "" "g.93997932G>A" "" "pathogenic (recessive)" ""
"0000767196" "3" "90" "1" "94463488" "94463488" "subst" "5.2803E-5" "01695" "ABCA4_000802" "g.94463488G>A" "" "{PMID:Fakin 2016:27583828}" "" "c.6658 C>T p.Q2220X" "" "Unknown" "" "" "0" "" "" "g.93997932G>A" "" "pathogenic (recessive)" ""
"0000767197" "3" "90" "1" "94463488" "94463488" "subst" "5.2803E-5" "01695" "ABCA4_000802" "g.94463488G>A" "" "{PMID:Fakin 2016:27583828}" "" "c.6658 C>T p.Q2220X" "" "Unknown" "" "" "0" "" "" "g.93997932G>A" "" "pathogenic (recessive)" ""
"0000767198" "0" "90" "1" "94544895" "94544895" "subst" "1.62455E-5" "01695" "ABCA4_000329" "g.94544895G>A" "" "{PMID:Fakin 2016:27583828}" "" "c.1222C>T p.R408X" "" "Unknown" "" "" "0" "" "" "g.94079339G>A" "" "pathogenic (recessive)" ""
"0000767199" "3" "90" "1" "94514455" "94514455" "del" "0" "01695" "ABCA4_000699" "g.94514455del" "" "{PMID:Fakin 2016:27583828}" "" "c.2712delG p.E905fs" "" "Unknown" "" "" "0" "" "" "g.94048899del" "" "pathogenic (recessive)" ""
"0000767200" "3" "90" "1" "94509001" "94509001" "subst" "0" "01695" "ABCA4_001405" "g.94509001A>C" "" "{PMID:Fakin 2016:27583828}" "" "c.3081T>G p.Y1027X" "" "Unknown" "" "" "0" "" "" "g.94043445A>C" "" "pathogenic (recessive)" ""
"0000767201" "3" "90" "1" "94509001" "94509001" "subst" "0" "01695" "ABCA4_001405" "g.94509001A>C" "" "{PMID:Fakin 2016:27583828}" "" "c.3081T>G p.Y1027X" "" "Unknown" "" "" "0" "" "" "g.94043445A>C" "" "pathogenic (recessive)" ""
"0000767202" "3" "90" "1" "94473278" "94473278" "del" "3.25908E-5" "01695" "ABCA4_000392" "g.94473278del" "" "{PMID:Fakin 2016:27583828}" "" "c.5917delG p.V1973fs" "" "Unknown" "" "" "0" "" "" "g.94007722del" "" "pathogenic (recessive)" ""
"0000767203" "3" "90" "1" "94497564" "94497564" "subst" "1.64383E-5" "01695" "ABCA4_000091" "g.94497564G>A" "" "{PMID:Fakin 2016:27583828}" "" "c.3898C>T p.R1300X" "" "Unknown" "" "" "0" "" "" "g.94032008G>A" "" "pathogenic (recessive)" ""
"0000767204" "3" "90" "1" "94543303" "94543303" "subst" "0" "01695" "ABCA4_001411" "g.94543303C>T" "" "{PMID:Fakin 2016:27583828}" "" "c.1497G>A p.W499X" "" "Unknown" "" "" "0" "" "" "g.94077747C>T" "" "pathogenic (recessive)" ""
"0000767205" "3" "90" "1" "94463488" "94463488" "subst" "5.2803E-5" "01695" "ABCA4_000802" "g.94463488G>A" "" "{PMID:Fakin 2016:27583828}" "" "c.6658 C>T p.Q2220X" "" "Unknown" "" "" "0" "" "" "g.93997932G>A" "" "pathogenic (recessive)" ""
"0000767206" "3" "90" "1" "94463488" "94463488" "subst" "5.2803E-5" "01695" "ABCA4_000802" "g.94463488G>A" "" "{PMID:Fakin 2016:27583828}" "" "c.6658 C>T p.Q2220X" "" "Unknown" "" "" "0" "" "" "g.93997932G>A" "" "pathogenic (recessive)" ""
"0000767207" "3" "90" "1" "94463488" "94463488" "subst" "5.2803E-5" "01695" "ABCA4_000802" "g.94463488G>A" "" "{PMID:Fakin 2016:27583828}" "" "c.6658 C>T p.Q2220X" "" "Unknown" "" "" "0" "" "" "g.93997932G>A" "" "pathogenic (recessive)" ""
"0000767208" "3" "90" "1" "94471056" "94471056" "subst" "2.84398E-5" "01695" "ABCA4_000050" "g.94471056G>A" "" "{PMID:Fakin 2016:27583828}" "" "c.6088C>T p.R2030X" "" "Unknown" "" "" "0" "" "" "g.94005500G>A" "" "pathogenic (recessive)" ""
"0000767209" "3" "90" "1" "94508356" "94508356" "subst" "0" "01695" "ABCA4_000635" "g.94508356T>A" "" "{PMID:Fakin 2016:27583828}" "" "c.3289A>T p.R1097X" "" "Unknown" "" "" "0" "" "" "g.94042800T>A" "" "pathogenic (recessive)" ""
"0000767210" "3" "90" "1" "94544185" "94544185" "subst" "8.12137E-6" "01695" "ABCA4_000177" "g.94544185C>T" "" "{PMID:Fakin 2016:27583828}" "" "c.1317G>A p.W439X" "" "Unknown" "" "" "0" "" "" "g.94078629C>T" "" "pathogenic (recessive)" ""
"0000767211" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Fakin 2016:27583828}" "" "c.5714+5G>A Splice" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000767212" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Fakin 2016:27583828}{PMID:Fakin 2016:27820952}" "" "c.5714+5G>A Splice" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000767213" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Fakin 2016:27583828}" "" "c.5714+5G>A Splice" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000767214" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Fakin 2016:27583828}" "" "c.5461-10T>C Splice" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000767215" "3" "90" "1" "94466391" "94466391" "subst" "0" "01695" "ABCA4_000814" "g.94466391C>T" "" "{PMID:Fakin 2016:27583828}" "" "c.6479+1G>A Splice" "" "Unknown" "" "" "0" "" "" "g.94000835C>T" "" "pathogenic (recessive)" ""
"0000767216" "3" "90" "1" "94466391" "94466391" "subst" "0" "01695" "ABCA4_000814" "g.94466391C>T" "" "{PMID:Fakin 2016:27583828}" "" "c.6479+1G>A Splice" "" "Unknown" "" "" "0" "" "" "g.94000835C>T" "" "pathogenic (recessive)" ""
"0000767217" "3" "70" "1" "94496548" "94496548" "subst" "2.43787E-5" "01695" "ABCA4_000088" "g.94496548G>A" "" "{PMID:Fakin 2016:27583828}" "" "c.4253+4C>T Splice" "" "Unknown" "" "" "0" "" "" "g.94030992G>A" "" "likely pathogenic (recessive)" ""
"0000767218" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Fakin 2016:27583828}" "" "c.5461-10T>C Splice" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000767219" "3" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Fakin 2016:27583828}" "" "c.5461-10T>C Splice" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000767220" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Fakin 2016:27583828}" "" "c.768G>T p.V256V (splice)" "" "Unknown" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000767221" "3" "70" "1" "94463399" "94463413" "del" "0" "01695" "ABCA4_000851" "g.94463399_94463413del" "" "{PMID:Fakin 2016:27583828}" "" "c.6729+4del15 Splice" "" "Unknown" "" "" "0" "" "" "g.93997843_93997857del" "" "likely pathogenic (recessive)" ""
"0000767222" "3" "70" "1" "94463399" "94463413" "del" "0" "01695" "ABCA4_000851" "g.94463399_94463413del" "" "{PMID:Fakin 2016:27583828}" "" "c.6729+4del15 Splice" "" "Unknown" "" "" "0" "" "" "g.93997843_93997857del" "" "likely pathogenic (recessive)" ""
"0000767223" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Fakin 2016:27583828}" "" "c.5461-10T>C Splice" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000767224" "0" "90" "1" "94458800" "94458800" "subst" "0" "01695" "ABCA4_001557" "g.94458800T>G" "" "{PMID:Fakin 2016:27583828}" "" "c.6817-2A>C Splice" "" "Unknown" "" "" "0" "" "" "g.93993244T>G" "" "pathogenic (recessive)" ""
"0000767225" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Fakin 2016:27583828}" "" "c.5461-10T>C Splice" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000767226" "0" "90" "1" "94485137" "94485137" "subst" "0" "01695" "ABCA4_000464" "g.94485137C>T" "" "{PMID:Fakin 2016:27583828}" "" "c.5196+1G>A Splice" "" "Unknown" "" "" "0" "" "" "g.94019581C>T" "" "pathogenic (recessive)" ""
"0000767227" "0" "90" "1" "94485137" "94485137" "subst" "0" "01695" "ABCA4_000464" "g.94485137C>T" "" "{PMID:Fakin 2016:27583828}" "" "c.5196+1G>A Splice" "" "Unknown" "" "" "0" "" "" "g.94019581C>T" "" "pathogenic (recessive)" ""
"0000767228" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Fakin 2016:27583828}" "" "c.5461-10T>C Splice" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000767229" "3" "70" "1" "94463399" "94463413" "del" "0" "01695" "ABCA4_000851" "g.94463399_94463413del" "" "{PMID:Fakin 2016:27583828}" "" "c.6729+4del15 Splice" "" "Unknown" "" "" "0" "" "" "g.93997843_93997857del" "" "likely pathogenic (recessive)" ""
"0000767230" "3" "70" "1" "94463399" "94463413" "del" "0" "01695" "ABCA4_000851" "g.94463399_94463413del" "" "{PMID:Fakin 2016:27583828}" "" "c.6729+4del15 Splice" "" "Unknown" "" "" "0" "" "" "g.93997843_93997857del" "" "likely pathogenic (recessive)" ""
"0000767231" "3" "70" "1" "94463399" "94463413" "del" "0" "01695" "ABCA4_000851" "g.94463399_94463413del" "" "{PMID:Fakin 2016:27583828}" "" "c.6729+4del15 Splice" "" "Unknown" "" "" "0" "" "" "g.93997843_93997857del" "" "likely pathogenic (recessive)" ""
"0000767232" "3" "70" "1" "94463399" "94463413" "del" "0" "01695" "ABCA4_000851" "g.94463399_94463413del" "" "{PMID:Fakin 2016:27583828}" "" "c.6729+4del15 Splice" "" "Unknown" "" "" "0" "" "" "g.93997843_93997857del" "" "likely pathogenic (recessive)" ""
"0000767233" "0" "70" "1" "94546283" "94546283" "subst" "8.18311E-5" "01695" "ABCA4_000356" "g.94546283A>G" "" "{PMID:Fakin 2016:27583828}" "" "c.859-9T>C Splice" "" "Unknown" "" "" "0" "" "" "g.94080727A>G" "" "likely pathogenic (recessive)" ""
"0000767234" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Fakin 2016:27583828}" "" "c.5714+5G>A Splice" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000767235" "0" "70" "1" "94546283" "94546283" "subst" "8.18311E-5" "01695" "ABCA4_000356" "g.94546283A>G" "" "{PMID:Fakin 2016:27583828}" "" "c.859-9T>C Splice" "" "Unknown" "" "" "0" "" "" "g.94080727A>G" "" "likely pathogenic (recessive)" ""
"0000767236" "3" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Fakin 2016:27583828}" "" "c.5461-10T>C Splice" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000767237" "3" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Fakin 2016:27583828}" "" "c.5461-10T>C Splice" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000767238" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Fakin 2016:27583828}{PMID:Fakin 2016:27820952}" "" "c.5882G>A p.G1961E" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000767239" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Fakin 2016:27583828}{PMID:Fakin 2016:27820952}" "" "c.5882G>A p.G1961E" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000767240" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Fakin 2016:27583828}{PMID:Fakin 2016:27820952}" "" "c.5882G>A p.G1961E" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000767241" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Fakin 2016:27583828}" "" "c.5882G>A p.G1961E" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000767242" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Fakin 2016:27583828}{PMID:Fakin 2016:27820952}" "" "c.5882G>A p.G1961E" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000767243" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Fakin 2016:27583828}{PMID:Fakin 2016:27820952}" "" "c.5882G>A p.G1961E" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000767244" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Fakin 2016:27583828}{PMID:Fakin 2016:27820952}" "" "c.5882G>A p.G1961E" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000767245" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Fakin 2016:27583828}" "" "c.5882G>A p.G1961E" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000767246" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Fakin 2016:27583828}{PMID:Fakin 2016:27820952}" "" "c.5882G>A p.G1961E" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000767247" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Fakin 2016:27583828}" "" "c.5882G>A p.G1961E" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000767248" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Fakin 2016:27583828}{PMID:Fakin 2016:27820952}" "" "c.5882G>A p.G1961E" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000767249" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Fakin 2016:27583828}{PMID:Fakin 2016:27820952}" "" "c.5882G>A p.G1961E" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000767250" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Fakin 2016:27583828}" "" "c.5882G>A p.G1961E" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000767251" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Fakin 2016:27583828}" "" "c.5882G>A p.G1961E" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000767252" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Fakin 2016:27583828}" "" "c.5882G>A p.G1961E" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000767253" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Fakin 2016:27583828}" "" "c.5882G>A p.G1961E" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000767254" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Fakin 2016:27583828}" "" "c.5882G>A p.G1961E" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000767255" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Fakin 2016:27583828}" "" "c.5882G>A p.G1961E" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000767256" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Fakin 2016:27583828}" "" "c.5882G>A p.G1961E" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000767257" "1" "70" "1" "94506923" "94506923" "subst" "2.43657E-5" "01695" "ABCA4_000012" "g.94506923C>T" "" "{PMID:Lambertus 2016:27699414}" "" "c.3364G>A p.(Glu1122Lys)" "" "Unknown" "" "" "0" "" "" "g.94041367C>T" "" "likely pathogenic (recessive)" ""
"0000767258" "1" "70" "1" "94495177" "94495177" "subst" "1.22342E-5" "01695" "ABCA4_000023" "g.94495177A>G" "" "{PMID:Lambertus 2016:27699414}" "" "c.4363T>C p.(Cys1455Arg)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94029621A>G" "" "likely pathogenic (recessive)" ""
"0000767259" "1" "90" "1" "94495000" "94495000" "subst" "0" "01695" "ABCA4_000164" "g.94495000C>A" "" "{PMID:Lambertus 2016:27699414}" "" "c.4539+1G>T p.(?)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94029444C>A" "" "pathogenic (recessive)" ""
"0000767260" "1" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Lambertus 2016:27699414}" "" "c.5882G>A p.(Gly1961Glu)" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000767261" "1" "70" "1" "94506952" "94506952" "subst" "0" "01695" "ABCA4_000628" "g.94506952G>T" "" "{PMID:Lambertus 2016:27699414}" "" "c.3335C>A p.(Thr1112Asn" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94041396G>T" "" "likely pathogenic (recessive)" ""
"0000767262" "1" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Lambertus 2016:27699414}" "" "c.2588G>C p.[Gly863Ala, Gly863del]" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000767263" "1" "70" "1" "94512636" "94512636" "subst" "4.06669E-6" "01695" "ABCA4_001334" "g.94512636T>G" "" "{PMID:Lambertus 2016:27699414}" "" "c.2757A>C p.(Glu919Asp)" "" "Unknown" "" "" "0" "" "" "g.94047080T>G" "" "likely pathogenic (recessive)" ""
"0000767264" "1" "70" "1" "94495078" "94495078" "subst" "8.37044E-6" "01695" "ABCA4_000042" "g.94495078A>G" "" "{PMID:Lambertus 2016:27699414}" "" "c.4462T>C p.(Cys1488Arg)" "" "Unknown" "" "" "0" "" "" "g.94029522A>G" "" "likely pathogenic (recessive)" ""
"0000767265" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Lambertus 2016:27699414}" "" "c.1622T>C;3113C>T p.[Leu541Pro; Ala1038Val]" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000767266" "1" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Lambertus 2016:27699414}" "" "c.5461-10T>C p.[Thr1821Valfs*13, Thr1821Aspfs*6]" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000767267" "1" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Lambertus 2016:27699414}" "" "c.2588G>C p.[Gly863Ala, Gly863del]" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000767268" "1" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Lambertus 2016:27699414}" "" "c.2588G>C p.[Gly863Ala, Gly863del]" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000767269" "1" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Lambertus 2016:27699414}" "" "c.5882G>A p.(Gly1961Glu)" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000767270" "1" "70" "1" "94528248" "94528248" "subst" "1.22148E-5" "01695" "ABCA4_000279" "g.94528248A>T" "" "{PMID:Lambertus 2016:27699414}" "" "c.1822T>A p.(Phe608Ile)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94062692A>T" "" "likely pathogenic (recessive)" ""
"0000767271" "1" "90" "1" "94485173" "94485174" "del" "0" "01695" "ABCA4_000468" "g.94485173_94485174del" "" "{PMID:Lambertus 2016:27699414}" "" "c.5161_5162del p.(Thr1721fs)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94019617_94019618del" "" "pathogenic (recessive)" ""
"0000767272" "1" "90" "1" "94495034" "94495034" "subst" "5.28994E-6" "01695" "ABCA4_000539" "g.94495034G>T" "" "{PMID:Lambertus 2016:27699414}" "" "c.4506C>A p.(Cys1502*)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94029478G>T" "" "pathogenic (recessive)" ""
"0000767273" "1" "70" "1" "94522239" "94522239" "subst" "2.03305E-5" "01695" "ABCA4_000736" "g.94522239A>T" "" "{PMID:Parker 2016:27730010}" "" "c.2300 T>A" "" "Unknown" "" "" "0" "" "" "g.94056683A>T" "" "likely pathogenic (recessive)" ""
"0000767274" "1" "70" "1" "94466422" "94466422" "subst" "2.43651E-5" "01695" "ABCA4_000817" "g.94466422C>T" "" "{PMID:Parker 2016:27730010}" "" "c.6449G>A" "" "Unknown" "" "" "0" "" "" "g.94000866C>T" "" "likely pathogenic (recessive)" ""
"0000767275" "1" "50" "1" "94544167" "94544167" "subst" "8.12269E-6" "01695" "ABCA4_000316" "g.94544167G>C" "" "{PMID:Parker 2016:27730010}" "" "c.1335C>G" "" "Unknown" "" "" "0" "" "" "g.94078611G>C" "" "VUS" ""
"0000767276" "1" "90" "1" "94544200" "94544200" "del" "4.06072E-6" "01695" "ABCA4_000319" "g.94544200del" "" "{PMID:Parker 2016:27730010}" "" "c.1302de" "" "Unknown" "" "" "0" "" "" "g.94078644del" "" "pathogenic (recessive)" ""
"0000767277" "0" "70" "1" "94520705" "94520705" "subst" "0" "01695" "ABCA4_000714" "g.94520705T>C" "" "{PMID:Parker 2016:27730010}" "" "c.2549A>G" "" "Unknown" "" "" "0" "" "" "g.94055149T>C" "" "likely pathogenic (recessive)" ""
"0000767278" "1" "90" "1" "94508435" "94508436" "dup" "0" "01695" "ABCA4_000998" "g.94508435_94508436dup" "" "{PMID:Parker 2016:27730010}" "" "c.3209_3210dup" "" "Unknown" "" "" "0" "" "" "g.94042879_94042880dup" "" "pathogenic (recessive)" ""
"0000767279" "1" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Parker 2016:27730010}" "" "c.2588G>C" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000767280" "3" "90" "1" "94568700" "94568700" "subst" "0" "01695" "ABCA4_002206" "g.94568700T>C" "" "{PMID:Parker 2016:27730010}" "" "c.443-2A>G" "" "Unknown" "" "" "0" "" "" "g.94103144T>C" "" "pathogenic (recessive)" ""
"0000767281" "1" "70" "1" "94528263" "94528263" "subst" "0" "01695" "ABCA4_001348" "g.94528263A>G" "" "{PMID:Parker 2016:27730010}" "" "c.1807 T>C" "" "Unknown" "" "" "0" "" "" "g.94062707A>G" "" "likely pathogenic (recessive)" ""
"0000767282" "1" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Parker 2016:27730010}" "" "c.4139C>T" "" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000767283" "1" "90" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Parker 2016:27730010}" "" "c.634C>T" "" "Unknown" "" "" "0" "" "" "g.94098928G>A" "" "pathogenic (recessive)" ""
"0000767284" "1" "70" "1" "94508893" "94508909" "delins" "0" "01695" "ABCA4_001946" "g.94508893_94508909delinsACAAC" "" "{PMID:Parker 2016:27730010}" "" "c.3173_3189delinsGTTGT" "" "Unknown" "" "" "0" "" "" "g.94043337_94043353delinsACAAC" "" "likely pathogenic (recessive)" ""
"0000767285" "1" "70" "1" "94496642" "94496642" "subst" "4.06398E-6" "01695" "ABCA4_000168" "g.94496642A>G" "" "{PMID:Parker 2016:27730010}" "" "c.4163T>C" "" "Unknown" "" "" "0" "" "" "g.94031086A>G" "" "likely pathogenic (recessive)" ""
"0000767286" "1" "10" "1" "94497563" "94497563" "subst" "0.00492504" "01695" "ABCA4_000090" "g.94497563C>T" "" "{PMID:Parker 2016:27730010}" "" "c.3899G>A" "" "Unknown" "" "" "0" "" "" "g.94032007C>T" "" "benign" ""
"0000767287" "1" "70" "1" "94463568" "94463603" "del" "0" "01695" "ABCA4_000805" "g.94463568_94463603del" "" "{PMID:Parker 2016:27730010}" "" "c.6545_6580del" "" "Unknown" "" "" "0" "" "" "g.93998012_93998047del" "" "likely pathogenic (recessive)" ""
"0000767288" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Parker 2016:27730010}" "" "c.1622T>C" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000767289" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Parker 2016:27730010}" "" "c.3113C>T" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000767290" "1" "90" "1" "94526247" "94526248" "del" "0" "01695" "ABCA4_000761" "g.94526247_94526248del" "" "{PMID:Parker 2016:27730010}" "" "c.2005_2006del" "" "Unknown" "" "" "0" "" "" "g.94060691_94060692del" "" "pathogenic (recessive)" ""
"0000767291" "1" "50" "1" "94496610" "94496610" "subst" "2.03128E-5" "01695" "ABCA4_000571" "g.94496610C>T" "" "{PMID:Parker 2016:27730010}" "" "c.4195G>A" "" "Unknown" "" "" "0" "" "" "g.94031054C>T" "" "VUS" ""
"0000767292" "1" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Parker 2016:27730010}" "" "c.3386G>T" "" "Unknown" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000767293" "3" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Parker 2016:27730010}" "" "c.1804C>T" "" "Unknown" "" "" "0" "" "" "g.94062710G>A" "" "pathogenic (recessive)" ""
"0000767294" "3" "90" "1" "94473278" "94473278" "del" "3.25908E-5" "01695" "ABCA4_000392" "g.94473278del" "" "{PMID:Parker 2016:27730010}" "" "c.5917del" "" "Unknown" "" "" "0" "" "" "g.94007722del" "" "pathogenic (recessive)" ""
"0000767295" "1" "90" "1" "94528714" "94528714" "subst" "0" "01695" "ABCA4_000296" "g.94528714G>A" "" "{PMID:Lin 2016:27739528}" "" "c.1714C>T p.R572X" "" "Unknown" "yes" "" "0" "" "" "g.94063158G>A" "" "pathogenic (recessive)" ""
"0000767296" "1" "50" "1" "94467506" "94467506" "subst" "3.24913E-5" "01695" "ABCA4_000785" "g.94467506C>T" "" "{PMID:Lin 2016:27739528}" "" "c.6190G>A p.A2064T" "" "Unknown" "yes" "" "0" "" "" "g.94001950C>T" "" "VUS" ""
"0000767297" "1" "90" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Lin 2016:27739528}" "" "c.2894A>G p.N965S" "" "Unknown" "yes" "" "0" "" "" "g.94046943T>C" "" "pathogenic (recessive)" ""
"0000767298" "1" "90" "1" "94546248" "94546248" "del" "2.03666E-5" "01695" "ABCA4_000352" "g.94546248del" "" "{PMID:Lin 2016:27739528}" "" "c.885delC p.L296CfsX4" "" "Unknown" "yes" "" "0" "" "" "g.94080692del" "" "pathogenic (recessive)" ""
"0000767299" "3" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Aukrust 2017:27775217}" "" "c.5461-10T>C (homo)" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000767300" "1" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Aukrust 2017:27775217}" "" "c.5461-10T>C (hetero); c.5603A>T (hetero)" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000767301" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Aukrust 2017:27775217}" "" "c.5603A>T (hetero)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000767302" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Aukrust 2017:27775217}" "" "c.5603A>T (hetero)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000767303" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Fakin 2016:27820952}" "" "c.5882G>A p.G1961E" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000767304" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Fakin 2016:27820952}" "" "c.5882G>A p.G1961E" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000767305" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Fakin 2016:27820952}" "" "c.5882G>A p.G1961E" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000767306" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Fakin 2016:27820952}" "" "c.5882G>A p.G1961E" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000767307" "0" "90" "1" "94568687" "94568687" "subst" "1.62641E-5" "01695" "ABCA4_000024" "g.94568687G>A" "" "{PMID:Fakin 2016:27820952}" "" "c.454C>T p.R152X" "" "Unknown" "" "" "0" "" "" "g.94103131G>A" "" "pathogenic (recessive)" ""
"0000767308" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Fakin 2016:27820952}" "" "c.5882G>A p.G1961E" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000767309" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Fakin 2016:27820952}" "" "c.5882G>A p.G1961E" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000767310" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Fakin 2016:27820952}" "" "c.5882G>A p.G1961E" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000767311" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Fakin 2016:27820952}" "" "c.5882G>A p.G1961E" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000767312" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Fakin 2016:27820952}" "" "c.5882G>A p.G1961E" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000767313" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Fakin 2016:27820952}{PMID:Fujinami 2019:29925512}{PMID:Fakin 2016:27583828}" "" "c.5882G>A p.G1961E" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000767314" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Fakin 2016:27820952}" "" "c.5882G>A p.G1961E" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000767315" "0" "70" "1" "94471055" "94471055" "subst" "0.00035346" "01695" "ABCA4_000029" "g.94471055C>T" "" "{PMID:Fakin 2016:27820952}" "" "c.6089G>A p.R2030Q" "" "Unknown" "" "" "0" "" "" "g.94005499C>T" "" "likely pathogenic (recessive)" ""
"0000767316" "0" "70" "1" "94471055" "94471055" "subst" "0.00035346" "01695" "ABCA4_000029" "g.94471055C>T" "" "{PMID:Fakin 2016:27820952}" "" "c.6089G>A p.R2030Q" "" "Unknown" "" "" "0" "" "" "g.94005499C>T" "" "likely pathogenic (recessive)" ""
"0000767317" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Fakin 2016:27820952}" "" "c.2588G>C p.G863A/p.863delG" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000767318" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Fakin 2016:27820952}" "" "c.2588G>C p.G863A/p.863delG" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000767319" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Fakin 2016:27820952}" "" "c.2588G>C p.G863A/p.863delG" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000767320" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Fakin 2016:27820952}" "" "c.2588G>C p.G863A/p.863delG" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000767321" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Fakin 2016:27820952}" "" "c.2588G>C p.G863A/p.863delG" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000767322" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Fakin 2016:27820952}" "" "c.2588G>C p.G863A/p.863delG" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000767323" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Fakin 2016:27820952}" "" "c.2588G>C p.G863A/p.863delG" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000767324" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Fakin 2016:27820952}" "" "c.2588G>C p.G863A/p.863delG" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000767325" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Fakin 2016:27820952}" "" "c.2588G>C p.G863A/p.863delG" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000767326" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Fakin 2016:27820952}" "" "c.2588G>C p.G863A/p.863delG" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000767327" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Fakin 2016:27820952}" "" "c.2588G>C p.G863A/p.863delG" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000767328" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Fakin 2016:27820952}" "" "c.2588G>C p.G863A/p.863delG" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000767329" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Fakin 2016:27820952}" "" "c.2588G>C p.G863A/p.863delG" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000767330" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Fakin 2016:27820952}" "" "c.2588G>C p.G863A/p.863delG" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000767331" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Fakin 2016:27820952}" "" "c.2588G>C p.G863A/p.863delG" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000767332" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Fakin 2016:27820952}" "" "c.2588G>C p.G863A/p.863delG" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000767333" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Fakin 2016:27820952}" "" "c.2588G>C p.G863A/p.863delG" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000767334" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Fakin 2016:27820952}" "" "c.2588G>C p.G863A/p.863delG" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000767335" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Fakin 2016:27820952}" "" "c.6079C>T p.L2027F" "" "Unknown" "" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic (recessive)" ""
"0000767336" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Fakin 2016:27820952}" "" "c.6079C>T p.L2027F" "" "Unknown" "" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic (recessive)" ""
"0000767337" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Fakin 2016:27820952}" "" "c.6079C>T p.L2027F" "" "Unknown" "" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic (recessive)" ""
"0000767338" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Fakin 2016:27820952}{PMID:Georgiou 2019:31812472}" "" "c.6079C>T p.L2027F" "" "Unknown" "" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic (recessive)" ""
"0000767339" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Fakin 2016:27820952}" "" "c.6079C>T p.L2027F" "" "Unknown" "" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic (recessive)" ""
"0000767340" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Fakin 2016:27820952}" "" "c.6079C>T p.L2027F" "" "Unknown" "" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic (recessive)" ""
"0000767341" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Fakin 2016:27820952}" "" "c.6079C>T p.L2027F" "" "Unknown" "" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic (recessive)" ""
"0000767342" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Fakin 2016:27820952}" "" "c.6079C>T p.L2027F" "" "Unknown" "" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic (recessive)" ""
"0000767343" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Fakin 2016:27820952}" "" "c.6079C>T p.L2027F" "" "Unknown" "" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic (recessive)" ""
"0000767344" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Fakin 2016:27820952}" "" "c.5714+5G>A Splice" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000767345" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Fakin 2016:27820952}" "" "c.5714+5G>A Splice" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000767346" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Fakin 2016:27820952}" "" "c.5714+5G>A Splice" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000767347" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Fakin 2016:27820952}" "" "c.5714+5G>A Splice" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000767348" "0" "70" "1" "94578618" "94578618" "subst" "0.000166918" "01695" "ABCA4_000252" "g.94578618C>T" "" "{PMID:Fakin 2016:27820952}" "" "c.71G>A p.R24H" "" "Unknown" "" "" "0" "" "" "g.94113062C>T" "" "likely pathogenic (recessive)" ""
"0000767349" "3" "90" "1" "94522194" "94522194" "subst" "0" "01695" "ABCA4_000733" "g.94522194C>T" "" "{PMID:Habibi 2016:27874104}" "" "p.W782*" "" "Unknown" "" "" "0" "" "" "g.94056638C>T" "" "pathogenic (recessive)" ""
"0000767350" "1" "90" "1" "94487212" "94487212" "del" "0" "01695" "ABCA4_001497" "g.94487212del" "" "{PMID:Roberts 2016:27898983}" "" "c.4832delC; p.(Thr1611MetfsTer51)" "" "Unknown" "yes" "" "0" "" "" "g.94021656del" "" "pathogenic (recessive)" ""
"0000767351" "1" "90" "1" "94487212" "94487212" "del" "0" "01695" "ABCA4_001497" "g.94487212del" "" "{PMID:Roberts 2016:27898983}" "" "c.4832delC; p.(Thr1611MetfsTer51)" "" "Unknown" "yes" "" "0" "" "" "g.94021656del" "" "pathogenic (recessive)" ""
"0000767352" "3" "70" "1" "94474323" "94474323" "subst" "2.03034E-5" "01695" "ABCA4_000156" "g.94474323A>G" "" "{PMID:Zolnikova 2017:27939946}" "" "c.5819T>C Leu1940Pro Homozygous" "" "Unknown" "" "" "0" "" "" "g.94008767A>G" "" "likely pathogenic (recessive)" ""
"0000767353" "0" "90" "1" "94526296" "94526296" "subst" "1.64555E-5" "01695" "ABCA4_000768" "g.94526296G>A" "" "{PMID:Zolnikova 2017:27939946}" "" "c.1957C>T Arg653Cys Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94060740G>A" "" "pathogenic (recessive)" ""
"0000767354" "0" "90" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Zolnikova 2017:27939946}" "" "c.2894A>G Asn965Ser Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94046943T>C" "" "pathogenic (recessive)" ""
"0000767355" "0" "70" "1" "94508367" "94508367" "subst" "0" "01695" "ABCA4_001929" "g.94508367T>C" "" "{PMID:Zolnikova 2017:27939946}" "" "c.A3278A>C Asp1093Ala/Gly Heterozygous" "in this patient 2 variants were identified in the RDH12 gene as well: c.133A>G Thr45Ala Heterozygously, c.482G>A Arg161Gln Heterozygously" "Unknown" "" "" "0" "" "" "g.94042811T>C" "" "likely pathogenic (recessive)" ""
"0000767356" "0" "90" "1" "94520689" "94520689" "subst" "0" "01695" "ABCA4_000711" "g.94520689C>T" "" "{PMID:Zolnikova 2017:27939946}" "" "c.2565G>A Trp855Ter Heterozygous" "no variant 2nd chromosome; In this patient, the c.279G>C variant in BEST1 was also identified" "Unknown" "" "" "0" "" "" "g.94055133C>T" "" "pathogenic (recessive)" ""
"0000767357" "0" "50" "1" "94512602" "94512602" "subst" "0.000369717" "01695" "ABCA4_000052" "g.94512602C>T" "" "{PMID:Zolnikova 2017:27939946}" "" "c.2791G>A Val931Met Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94047046C>T" "" "VUS" ""
"0000767358" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Zolnikova 2017:27939946}" "" "c.6079C>T Leu2027Phe Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic (recessive)" ""
"0000767359" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Zolnikova 2017:27939946}" "" "c.2588G>C Gly863Ala Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000767360" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Zolnikova 2017:27939946}" "" "c.4139C>T Pro1380Leu Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000767361" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Zolnikova 2017:27939946}" "" "c.1622T>C Leu541Pro Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000767362" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Zolnikova 2017:27939946}" "" "c.5882G>A Gly1961Glu Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000767363" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Zolnikova 2017:27939946}" "" "c.3113C>T Ala1038Val Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000767364" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Zolnikova 2017:27939946}" "" "c.5882G>A Gly1961Glu Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000767365" "0" "90" "1" "94466628" "94466628" "subst" "0.000109748" "01695" "ABCA4_000094" "g.94466628G>A" "" "{PMID:Zolnikova 2017:27939946}" "" "c.6316C>T Arg2107Cys Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94001072G>A" "" "pathogenic (recessive)" ""
"0000767366" "0" "50" "1" "94577066" "94577066" "subst" "0" "01695" "ABCA4_000230" "g.94577066A>T" "" "{PMID:Zolnikova 2017:27939946}" "" "c.230T>A Val77Glu Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94111510A>T" "" "VUS" ""
"0000767367" "0" "90" "1" "94481381" "94481381" "del" "0" "01695" "ABCA4_001710" "g.94481381del" "" "{PMID:Zolnikova 2017:27939946}" "" "c.5226delC Frame shift Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94015825del" "" "pathogenic (recessive)" ""
"0000767368" "0" "70" "1" "94520717" "94520717" "subst" "0" "01695" "ABCA4_001367" "g.94520717T>A" "" "{PMID:Zolnikova 2017:27939946}" "" "c.2537A>T Asp846Val Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94055161T>A" "" "likely pathogenic (recessive)" ""
"0000767369" "0" "90" "1" "94546240" "94546240" "del" "0" "01695" "ABCA4_000000" "g.94546240del" "" "{PMID:Zolnikova 2017:27939946}" "" "c.893delG Frame shift Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94080684del" "" "pathogenic (recessive)" ""
"0000767370" "0" "70" "1" "94528265" "94528265" "subst" "2.44212E-5" "01695" "ABCA4_000284" "g.94528265C>T" "" "{PMID:Zolnikova 2017:27939946}" "" "c.1805G>A Arg602Gln Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94062709C>T" "" "likely pathogenic (recessive)" ""
"0000767371" "0" "70" "1" "94509018" "94509018" "subst" "8.12869E-6" "01695" "ABCA4_000659" "g.94509018C>T" "" "{PMID:Zolnikova 2017:27939946}" "" "c.3064G>A Glu1022Lys Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94043462C>T" "" "likely pathogenic (recessive)" ""
"0000767372" "0" "70" "1" "94486922" "94486922" "subst" "0" "01695" "ABCA4_000044" "g.94486922A>G" "" "{PMID:Zolnikova 2017:27939946}" "" "c.4892T>C Leu1631Pro Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94021366A>G" "" "likely pathogenic (recessive)" ""
"0000767373" "0" "70" "1" "94564415" "94564416" "ins" "0" "01695" "ABCA4_002180" "g.94564415_94564416insGAT" "" "{PMID:Zolnikova 2017:27939946}" "" "c.702insATC Frame shift Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94098859_94098860insGAT" "" "likely pathogenic (recessive)" ""
"0000767374" "0" "70" "1" "94520702" "94520702" "subst" "0" "01695" "ABCA4_000713" "g.94520702C>T" "" "{PMID:Zolnikova 2017:27939946}" "" "c.2552G>A Gly851Asp Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94055146C>T" "" "likely pathogenic (recessive)" ""
"0000767375" "3" "50" "1" "94481401" "94481401" "subst" "4.09199E-6" "01695" "ABCA4_000460" "g.94481401A>G" "" "{PMID:Zolnikova 2017:27939946}" "" "c.5206T>C Ser1736Pro Homozygous" "" "Unknown" "" "" "0" "" "" "g.94015845A>G" "" "VUS" ""
"0000767376" "0" "70" "1" "94508350" "94508350" "subst" "0" "01695" "ABCA4_000633" "g.94508350A>G" "" "{PMID:Zolnikova 2017:27939946}" "" "c.3295T>C Ser1099Pro Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94042794A>G" "" "likely pathogenic (recessive)" ""
"0000767377" "0" "50" "1" "94512589" "94512589" "subst" "4.06184E-6" "01695" "ABCA4_000696" "g.94512589A>G" "" "{PMID:Zolnikova 2017:27939946}" "" "c.2804T>C Val935Ala Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94047033A>G" "" "VUS" ""
"0000767378" "0" "70" "1" "94528247" "94528247" "subst" "0" "01695" "ABCA4_000278" "g.94528247A>T" "" "{PMID:Zolnikova 2017:27939946}" "" "c.1823T>A Phe608Ile Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94062691A>T" "" "likely pathogenic (recessive)" ""
"0000767379" "0" "70" "1" "94546126" "94546126" "subst" "2.03383E-5" "01695" "ABCA4_000343" "g.94546126G>C" "" "{PMID:Zolnikova 2017:27939946}" "" "c.1007C>G Ser336Cys Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94080570G>C" "" "likely pathogenic (recessive)" ""
"0000767380" "0" "90" "1" "94544146" "94544146" "del" "0" "01695" "ABCA4_001508" "g.94544146del" "" "{PMID:Zolnikova 2017:27939946}" "" "c.1356delA Frame shift Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94078590del" "" "pathogenic (recessive)" ""
"0000767381" "0" "70" "1" "94544159" "94544161" "del" "0" "01695" "ABCA4_001509" "g.94544159_94544161del" "" "{PMID:Zolnikova 2017:27939946}" "" "c.1341delGAT Frame shift Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94078603_94078605del" "" "likely pathogenic (recessive)" ""
"0000767382" "0" "70" "1" "94574147" "94574147" "subst" "8.12236E-6" "01695" "ABCA4_000213" "g.94574147G>A" "" "{PMID:Zolnikova 2017:27939946}" "" "c.428C>T Pro143Leu Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94108591G>A" "" "likely pathogenic (recessive)" ""
"0000767383" "0" "90" "1" "94577064" "94577065" "ins" "0" "01695" "ABCA4_002224" "g.94577064_94577065insTTTTC" "" "{PMID:Zolnikova 2017:27939946}" "" "c.231insGAAAA Frame shift Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94111508_94111509insTTTTC" "" "pathogenic (recessive)" ""
"0000767384" "0" "70" "1" "94528713" "94528713" "subst" "4.87381E-5" "01695" "ABCA4_000072" "g.94528713C>T" "" "{PMID:Zolnikova 2017:27939946}" "" "c.1715G>A Arg572Gln Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94063157C>T" "" "likely pathogenic (recessive)" ""
"0000767385" "0" "90" "1" "94520844" "94520845" "del" "0" "01695" "ABCA4_002030" "g.94520844_94520845del" "" "{PMID:Lambertus 2016:28002570}" "" "c.2409_2410del p.(Phe804Trpfs*3)" "" "Unknown" "" "" "0" "" "" "g.94055288_94055289del" "" "pathogenic (recessive)" ""
"0000767386" "0" "70" "1" "94508316" "94510301" "del" "0" "01695" "ABCA4_000041" "g.(94506959_94508316)_(94510301_94512474)del" "" "{PMID:Lambertus 2016:28002570}" "" "c.3033-?_3364+?del p.(?)" "" "Unknown" "" "" "0" "" "" "g.(94041403_94042760)_(94044745_94046918)del" "" "likely pathogenic (recessive)" ""
"0000767387" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Lambertus 2016:28002570}" "" "c.768G>T p.(?)" "" "Unknown" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000767388" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Lambertus 2016:28002570}" "" "c.768G>T p.(?)" "" "Unknown" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000767389" "0" "90" "1" "94520844" "94520845" "del" "0" "01695" "ABCA4_002030" "g.94520844_94520845del" "" "{PMID:Lambertus 2016:28002570}" "" "c.2409_2410del p.(Phe804Trpfs*3)" "" "Unknown" "" "" "0" "" "" "g.94055288_94055289del" "" "pathogenic (recessive)" ""
"0000767390" "1" "70" "1" "94528217" "94528217" "subst" "0" "01695" "ABCA4_000272" "g.94528217C>T" "" "{PMID:Lambertus 2016:28002570}" "" "c.1853G>A;4297G>A p.(Gly618Glu;Val1433Ile)" "" "Unknown" "" "" "0" "" "" "g.94062661C>T" "" "likely pathogenic (recessive)" ""
"0000767391" "0" "70" "1" "94528248" "94528248" "subst" "1.22148E-5" "01695" "ABCA4_000279" "g.94528248A>T" "" "{PMID:Lambertus 2016:28002570}" "" "c.1822T>A p.(Phe608Ile)" "" "Unknown" "" "" "0" "" "" "g.94062692A>T" "" "likely pathogenic (recessive)" ""
"0000767392" "0" "90" "1" "94495034" "94495034" "subst" "5.28994E-6" "01695" "ABCA4_000539" "g.94495034G>T" "" "{PMID:Lambertus 2016:28002570}" "" "c.4506C>A p.(Cys1502*)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94029478G>T" "" "pathogenic (recessive)" ""
"0000767393" "0" "70" "1" "94508412" "94508412" "subst" "0" "01695" "ABCA4_000644" "g.94508412C>T" "" "{PMID:Lambertus 2016:28002570}" "" "c.3233G>A p.(Gly1078Glu)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94042856C>T" "" "likely pathogenic (recessive)" ""
"0000767394" "0" "90" "1" "94480222" "94480222" "subst" "4.06121E-6" "01695" "ABCA4_000442" "g.94480222G>T" "" "{PMID:Lambertus 2016:28002570}" "" "c.5337C>A p.(Tyr1779*)" "" "Unknown" "" "" "0" "" "" "g.94014666G>T" "" "pathogenic (recessive)" ""
"0000767395" "0" "90" "1" "94474381" "94474382" "dup" "0" "01695" "ABCA4_000409" "g.94474381_94474382dup" "" "{PMID:Lambertus 2016:28002570}" "" "c.5762_5763dup p.(Ala1922Trpfs*18)" "" "Unknown" "" "" "0" "" "" "g.94008825_94008826dup" "" "pathogenic (recessive)" ""
"0000767396" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Lambertus 2016:28002570}" "" "c.5882G>A p.(Gly1961Glu)" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000767397" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Lambertus 2016:28002570}" "" "c.5461-10T>C p.(Thr1821Valfs*13, Thr1821Aspfs*6)" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000767398" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Lambertus 2016:28002570}" "" "c.5461-10T>C p.(Thr1821Valfs*13, Thr1821Aspfs*6)" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000767399" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Lambertus 2016:28002570}" "" "c.5882G>A p.(Gly1961Glu)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000767400" "0" "90" "1" "94471056" "94471056" "subst" "2.84398E-5" "01695" "ABCA4_000050" "g.94471056G>A" "" "{PMID:Lambertus 2016:28002570}" "" "c.6088C>T p.(Arg2030*)" "" "Unknown" "" "" "0" "" "" "g.94005500G>A" "" "pathogenic (recessive)" ""
"0000767401" "0" "90" "1" "94520844" "94520845" "del" "0" "01695" "ABCA4_002030" "g.94520844_94520845del" "" "{PMID:Lambertus 2016:28002570}" "" "c.2409_2410del p.(Phe804Trpfs*3)" "" "Unknown" "" "" "0" "" "" "g.94055288_94055289del" "" "pathogenic (recessive)" ""
"0000767402" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Lambertus 2016:28002570}" "" "c.5882G>A p.(Gly1961Glu)" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000767403" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Lambertus 2016:28002570}" "" "c.768G>T p.(?)" "" "Unknown" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000767404" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Lambertus 2016:28002570}" "" "c.768G>T p.(?)" "" "Unknown" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000767405" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Lambertus 2016:28002570}" "" "c.5882G>A p.(Gly1961Glu)" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000767406" "0" "90" "1" "94487401" "94487401" "subst" "4.06085E-6" "01695" "ABCA4_000995" "g.94487401C>T" "" "{PMID:Lambertus 2016:28002570}" "" "c.4773+1G>A p.(?)" "" "Unknown" "" "" "0" "" "" "g.94021845C>T" "" "pathogenic (recessive)" ""
"0000767407" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Lambertus 2016:28002570}" "" "c.1622T>C;3113C>T p.[Leu541Pro;Ala1038Val]" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000767408" "0" "70" "1" "94466443" "94466443" "subst" "0" "01695" "ABCA4_001275" "g.94466443A>C" "" "{PMID:Lambertus 2016:28002570}" "" "c.6428T>G p.(Met2143Arg)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94000887A>C" "" "likely pathogenic (recessive)" ""
"0000767409" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Lambertus 2016:28002570}" "" "c.5461-10T>C p.(Thr1821Valfs*13, Thr1821Aspfs*6)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000767410" "0" "90" "1" "94497588" "94497588" "subst" "4.153E-6" "01695" "ABCA4_000049" "g.94497588G>A" "" "{PMID:Lambertus 2016:28002570}" "" "c.3874C>T p.(Gln1292*)" "" "Unknown" "" "" "0" "" "" "g.94032032G>A" "" "pathogenic (recessive)" ""
"0000767411" "0" "70" "1" "94484001" "94484001" "subst" "0" "01695" "ABCA4_000016" "g.94484001C>T" "" "{PMID:Lambertus 2016:28002570}" "" "c.5196+1137G>A p.(?)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94018445C>T" "" "likely pathogenic (recessive)" ""
"0000767412" "3" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Lambertus 2016:28002570}" "" "c.768G>T p.(?)" "" "Unknown" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000767413" "0" "70" "1" "94528248" "94528248" "subst" "1.22148E-5" "01695" "ABCA4_000279" "g.94528248A>T" "" "{PMID:Lambertus 2016:28002570}" "" "c.1822T>A p.(Phe608Ile)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94062692A>T" "" "likely pathogenic (recessive)" ""
"0000767414" "0" "70" "1" "94508316" "94510301" "del" "0" "01695" "ABCA4_000041" "g.(94506959_94508316)_(94510301_94512474)del" "" "{PMID:Lambertus 2016:28002570}" "" "c.3033-?_3364+?del p.(?)" "" "Unknown" "" "" "0" "" "" "g.(94041403_94042760)_(94044745_94046918)del" "" "likely pathogenic (recessive)" ""
"0000767415" "0" "90" "1" "94487401" "94487401" "subst" "4.06085E-6" "01695" "ABCA4_000995" "g.94487401C>T" "" "{PMID:Lambertus 2016:28002570}" "" "c.4773+1G>A p.(?)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94021845C>T" "" "pathogenic (recessive)" ""
"0000767416" "0" "90" "1" "94497333" "94497333" "subst" "0" "01695" "ABCA4_001221" "g.94497333C>T" "" "{PMID:Lambertus 2016:28002570}" "" "c.4128+1G>A p.(?)" "" "Unknown" "" "" "0" "" "" "g.94031777C>T" "" "pathogenic (recessive)" ""
"0000767417" "0" "90" "1" "94497333" "94497333" "subst" "0" "01695" "ABCA4_001221" "g.94497333C>T" "" "{PMID:Lambertus 2016:28002570}" "" "c.4128+1G>A p.(?)" "" "Unknown" "" "" "0" "" "" "g.94031777C>T" "" "pathogenic (recessive)" ""
"0000767418" "0" "90" "1" "94526092" "94526092" "subst" "0" "01695" "ABCA4_000749" "g.94526092C>A" "" "{PMID:Lambertus 2016:28002570}" "" "c.2160+1G>T p.(?)" "" "Unknown" "" "" "0" "" "" "g.94060536C>A" "" "pathogenic (recessive)" ""
"0000767419" "0" "90" "1" "94490606" "94490606" "subst" "4.06091E-6" "01695" "ABCA4_000086" "g.94490606T>C" "" "{PMID:Lambertus 2016:28002570}" "" "c.4540-2A>G p.(?)" "" "Unknown" "" "" "0" "" "" "g.94025050T>C" "" "pathogenic (recessive)" ""
"0000767420" "0" "90" "1" "94508386" "94508386" "subst" "1.62443E-5" "01695" "ABCA4_000642" "g.94508386C>T" "" "{PMID:Lambertus 2016:28002570}" "" "c.3259G>A p.(Glu1087Lys)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94042830C>T" "" "pathogenic (recessive)" ""
"0000767421" "0" "90" "1" "94474381" "94474382" "dup" "0" "01695" "ABCA4_000409" "g.94474381_94474382dup" "" "{PMID:Lambertus 2016:28002570}" "" "c.5762_5763dup p.(Ala1922Trpfs*18)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008825_94008826dup" "" "pathogenic (recessive)" ""
"0000767422" "0" "70" "1" "94577002" "94577002" "subst" "7.32398E-5" "01695" "ABCA4_000987" "g.94577002G>C" "" "{PMID:Ramkumar 2017:28005406}" "" "c.294C>G p.Asn98Lys Het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94111446G>C" "" "likely pathogenic (recessive)" ""
"0000767423" "0" "90" "1" "94568577" "94568577" "del" "0" "01695" "ABCA4_000201" "g.94568577del" "" "{PMID:Ramkumar 2017:28005406}" "" "c.564delA p.Glu189SerfsX12 Het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94103021del" "" "pathogenic (recessive)" ""
"0000767424" "0" "70" "1" "94506892" "94506892" "subst" "0" "01695" "ABCA4_001501" "g.94506892A>G" "" "{PMID:Ramkumar 2017:28005406}" "" "c.3395T>C p.Ile1132Thr Het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94041336A>G" "" "likely pathogenic (recessive)" ""
"0000767425" "0" "70" "1" "94544880" "94544880" "subst" "4.06101E-6" "01695" "ABCA4_001510" "g.94544880T>A" "" "{PMID:Ramkumar 2017:28005406}" "" "c.1237A>T p.Asn413Tyr Het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94079324T>A" "" "likely pathogenic (recessive)" ""
"0000767426" "0" "50" "1" "94564441" "94564441" "subst" "0.000203171" "01695" "ABCA4_001513" "g.94564441C>A" "" "{PMID:Ramkumar 2017:28005406}" "" "c.677G>T p.Arg226Leu Het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94098885C>A" "" "VUS" ""
"0000767427" "0" "70" "1" "94505659" "94505659" "subst" "0.000942724" "01695" "ABCA4_000921" "g.94505659C>A" "" "{PMID:Ramkumar 2017:28005406}" "" "c.3547G>T p.Gly1183Cys Het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94040103C>A" "" "likely pathogenic (recessive)" ""
"0000767428" "0" "70" "1" "94485197" "94485197" "subst" "1.23624E-5" "01695" "ABCA4_001496" "g.94485197G>T" "" "{PMID:Ramkumar 2017:28005406}" "" "c.5137C>A p.Gln1713Lys Het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94019641G>T" "" "likely pathogenic (recessive)" ""
"0000767429" "0" "70" "1" "94485197" "94485197" "subst" "0" "01695" "ABCA4_001728" "g.94485197G>C" "" "{PMID:Ramkumar 2017:28005406}" "" "c.5137A>G p.Gln1713Arg Het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94019641G>C" "" "likely pathogenic (recessive)" ""
"0000767430" "3" "70" "1" "94508366" "94508366" "subst" "0" "01695" "ABCA4_000638" "g.94508366G>T" "" "{PMID:Ramkumar 2017:28005406}" "" "c.3279C>A p.Asp1093Glu Hom" "" "Unknown" "" "" "0" "" "" "g.94042810G>T" "" "likely pathogenic (recessive)" ""
"0000767431" "0" "70" "1" "94495036" "94495036" "subst" "0" "01695" "ABCA4_001499" "g.94495036A>C" "" "{PMID:Ramkumar 2017:28005406}" "" "c.4504T>G p.Cys1502Gly Het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94029480A>C" "" "likely pathogenic (recessive)" ""
"0000767432" "0" "70" "1" "94480112" "94480112" "subst" "0" "01695" "ABCA4_001494" "g.94480112A>G" "" "{PMID:Ramkumar 2017:28005406}" "" "c.5447T>C p.Phe1816Ser Het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94014556A>G" "" "likely pathogenic (recessive)" ""
"0000767433" "0" "90" "1" "94548913" "94548913" "subst" "0" "01695" "ABCA4_000359" "g.94548913G>A" "" "{PMID:Ramkumar 2017:28005406}" "" "c.853C>T p.Gln285Ter Het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94083357G>A" "" "pathogenic (recessive)" ""
"0000767434" "0" "70" "1" "94528751" "94528751" "subst" "0" "01695" "ABCA4_001506" "g.94528751C>G" "" "{PMID:Ramkumar 2017:28005406}" "" "c.1677G>C p.Trp559Cys Het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94063195C>G" "" "likely pathogenic (recessive)" ""
"0000767435" "0" "70" "1" "94528209" "94528209" "subst" "0.000418852" "01695" "ABCA4_001505" "g.94528209T>C" "" "{PMID:Ramkumar 2017:28005406}" "" "c.1861A>G p.Arg621Gly Het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94062653T>C" "" "likely pathogenic (recessive)" ""
"0000767436" "3" "50" "1" "94512541" "94512541" "subst" "0" "01695" "ABCA4_000066" "g.94512541A>G" "" "{PMID:Ramkumar 2017:28005406}" "" "c.2852T>C p.Ile951Thr Hom" "" "Unknown" "" "" "0" "" "" "g.94046985A>G" "" "VUS" ""
"0000767437" "3" "70" "1" "94490588" "94490588" "subst" "6.90361E-5" "01695" "ABCA4_001498" "g.94490588G>A" "" "{PMID:Ramkumar 2017:28005406}" "" "c.4556C>T p.Thr1519Met Hom" "" "Unknown" "" "" "0" "" "" "g.94025032G>A" "" "likely pathogenic (recessive)" ""
"0000767438" "0" "50" "1" "94480168" "94480168" "subst" "9.7473E-5" "01695" "ABCA4_001495" "g.94480168A>G" "" "{PMID:Ramkumar 2017:28005406}" "" "c.5391T>C p.Cys1797Cys Het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94014612A>G" "" "VUS" ""
"0000767439" "0" "90" "1" "94497591" "94497591" "subst" "0" "01695" "ABCA4_000587" "g.94497591G>A" "" "{PMID:Ramkumar 2017:28005406}" "" "c.3871C>T p.Gln1291Ter Het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94032035G>A" "" "pathogenic (recessive)" ""
"0000767440" "0" "70" "1" "94508434" "94508434" "subst" "8.12236E-6" "01695" "ABCA4_001503" "g.94508434A>G" "" "{PMID:Ramkumar 2017:28005406}" "" "c.3211T>C p.Ser1071Pro Het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94042878A>G" "" "likely pathogenic (recessive)" ""
"0000767441" "0" "50" "1" "94496010" "94496010" "subst" "1.62434E-5" "01695" "ABCA4_000549" "g.94496010G>T" "" "{PMID:Ramkumar 2017:28005406}" "" "c.4326C>A p.Asn1442Lys Het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94030454G>T" "" "VUS" ""
"0000767442" "0" "90" "1" "94485157" "94485158" "ins" "0" "01695" "ABCA4_001040" "g.94485157_94485158insC" "" "{PMID:Ramkumar 2017:28005406}" "" "c.5176insG p.Thr1726AspfsX61 Het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94019601_94019602insC" "" "pathogenic (recessive)" ""
"0000767443" "0" "30" "1" "94576968" "94576968" "subst" "0.519705" "01695" "ABCA4_000949" "g.94576968T>C" "" "{PMID:Ramkumar 2017:28005406}" "" "c.302+26A>G Intronic Het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94111412T>C" "" "likely benign" ""
"0000767444" "0" "90" "1" "94496589" "94496589" "del" "0" "01695" "ABCA4_001500" "g.94496589del" "" "{PMID:Ramkumar 2017:28005406}" "" "c.4216delC p.H1406TfsX29 Het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94031033del" "" "pathogenic (recessive)" ""
"0000767445" "0" "70" "1" "94510202" "94510202" "subst" "0" "01695" "ABCA4_001504" "g.94510202C>A" "" "{PMID:Ramkumar 2017:28005406}" "" "c.3017G>T p.Gly1006Val Het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94044646C>A" "" "likely pathogenic (recessive)" ""
"0000767446" "0" "90" "1" "94564463" "94564463" "subst" "0" "01695" "ABCA4_000381" "g.94564463T>A" "" "{PMID:Ramkumar 2017:28005406}" "" "c.655A>T p.Arg219Ter Het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94098907T>A" "" "pathogenic (recessive)" ""
"0000767447" "0" "90" "1" "94510248" "94510248" "subst" "0.000544123" "01695" "ABCA4_000107" "g.94510248C>G" "" "{PMID:Ramkumar 2017:28005406}" "" "c.2971G>C p.Gly991Arg Het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94044692C>G" "" "pathogenic (recessive)" ""
"0000767448" "0" "70" "1" "94543271" "94543271" "subst" "0" "01695" "ABCA4_001507" "g.94543271A>G" "" "{PMID:Ramkumar 2017:28005406}" "" "c.1529T>C p.Leu510Pro Het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94077715A>G" "" "likely pathogenic (recessive)" ""
"0000767449" "20" "70" "1" "94476424" "94476424" "subst" "2.43694E-5" "01695" "ABCA4_000418" "g.94476424C>T" "" "{PMID:Zhang 2016:28050124}" "" "NM_000350.2; c.5646G>A; p.Met1882Ile" "" "Unknown" "yes" "" "0" "" "" "g.94010868C>T" "" "likely pathogenic (recessive)" ""
"0000767450" "20" "70" "1" "94476424" "94476424" "subst" "2.43694E-5" "01695" "ABCA4_000418" "g.94476424C>T" "" "{PMID:Zhang 2016:28050124}" "" "NM_000350.2; c.5646G>A; p.Met1882Ile" "" "Unknown" "yes" "" "0" "" "" "g.94010868C>T" "" "likely pathogenic (recessive)" ""
"0000767451" "20" "70" "1" "94476424" "94476424" "subst" "2.43694E-5" "01695" "ABCA4_000418" "g.94476424C>T" "" "{PMID:Zhang 2016:28050124}" "" "NM_000350.2; c.5646G>A; p.Met1882Ile" "" "Unknown" "yes" "" "0" "" "" "g.94010868C>T" "" "likely pathogenic (recessive)" ""
"0000767452" "0" "90" "1" "94586601" "94586601" "subst" "8.12156E-6" "01695" "ABCA4_000264" "g.94586601T>C" "" "{PMID:Schulz 2017:28118664}" "" "c.1A>G p.(M1?)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94121045T>C" "" "pathogenic (recessive)" ""
"0000767453" "0" "90" "1" "94586557" "94586557" "subst" "4.06134E-6" "01695" "ABCA4_000259" "g.94586557C>T" "" "{PMID:Schulz 2017:28118664}" "" "c.45G>A p.(W15*)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94121001C>T" "" "pathogenic (recessive)" ""
"0000767454" "0" "70" "1" "94586550" "94586550" "subst" "1.21864E-5" "01695" "ABCA4_000037" "g.94586550G>A" "" "{PMID:Schulz 2017:28118664}" "" "c.52C>T p.(R18W)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94120994G>A" "" "likely pathogenic (recessive)" ""
"0000767455" "0" "90" "1" "94578624" "94578624" "subst" "4.07408E-6" "01695" "ABCA4_001055" "g.94578624T>C" "" "{PMID:Schulz 2017:28118664}" "" "c.67-2A>G p.(?)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94113068T>C" "" "pathogenic (recessive)" ""
"0000767456" "0" "90" "1" "94578623" "94578623" "subst" "0" "01695" "ABCA4_001481" "g.94578623C>G" "" "{PMID:Schulz 2017:28118664}" "" "c.67-1G>C p.(I23Afs*24)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94113067C>G" "" "pathogenic (recessive)" ""
"0000767457" "0" "70" "1" "94578603" "94578603" "subst" "0" "01695" "ABCA4_002242" "g.94578603A>C" "" "{PMID:Schulz 2017:28118664}" "" "c.86T>G p.(L29R)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94113047A>C" "" "likely pathogenic (recessive)" ""
"0000767458" "0" "90" "1" "94578567" "94578567" "subst" "4.06204E-6" "01695" "ABCA4_000247" "g.94578567C>T" "" "{PMID:Schulz 2017:28118664}" "" "c.122G>A p.(W41*)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94113011C>T" "" "pathogenic (recessive)" ""
"0000767459" "0" "50" "1" "94578529" "94578529" "subst" "0" "01695" "ABCA4_000245" "g.94578529A>C" "" "{PMID:Schulz 2017:28118664}" "" "c.160T>G p.(C54G)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94112973A>C" "" "VUS" ""
"0000767460" "0" "90" "1" "94578527" "94578527" "subst" "0" "01695" "ABCA4_000243" "g.94578527A>G" "" "{PMID:Schulz 2017:28118664}" "" "c.160+2T>C p.(?)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94112971A>G" "" "pathogenic (recessive)" ""
"0000767461" "0" "70" "1" "94577135" "94577135" "subst" "2.43718E-5" "01695" "ABCA4_000240" "g.94577135C>T" "" "{PMID:Schulz 2017:28118664}" "" "c.161G>A p.(C54Y)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94111579C>T" "" "likely pathogenic (recessive)" ""
"0000767462" "0" "70" "1" "94577117" "94577117" "subst" "1.62472E-5" "01695" "ABCA4_000237" "g.94577117G>A" "" "{PMID:Schulz 2017:28118664}" "" "c.179C>T p.(A60V)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94111561G>A" "" "likely pathogenic (recessive)" ""
"0000767463" "0" "50" "1" "94577116" "94577116" "subst" "0" "01695" "ABCA4_002234" "g.94577116C>G" "" "{PMID:Schulz 2017:28118664}" "" "c.180G>C p.(A60A)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94111560C>G" "" "VUS" ""
"0000767464" "0" "70" "1" "94577102" "94577102" "subst" "4.06161E-6" "01695" "ABCA4_000033" "g.94577102C>T" "" "{PMID:Schulz 2017:28118664}" "" "c.194G>A p.(G65E)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94111546C>T" "" "likely pathogenic (recessive)" ""
"0000767465" "0" "70" "1" "94577093" "94577093" "subst" "0" "01695" "ABCA4_000178" "g.94577093G>C" "" "{PMID:Schulz 2017:28118664}" "" "c.203C>G p.(P68R)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94111537G>C" "" "likely pathogenic (recessive)" ""
"0000767466" "0" "90" "1" "94577090" "94577090" "subst" "0" "01695" "ABCA4_000233" "g.94577090C>T" "" "{PMID:Schulz 2017:28118664}" "" "c.206G>A p.(W69*)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94111534C>T" "" "pathogenic (recessive)" ""
"0000767467" "0" "90" "1" "94577001" "94577001" "dup" "0" "01695" "ABCA4_000179" "g.94577001dup" "" "{PMID:Schulz 2017:28118664}" "" "c.296dupA p.(N99Kfs*62)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94111445dup" "" "pathogenic (recessive)" ""
"0000767468" "0" "50" "1" "94574258" "94574258" "subst" "0.00115728" "01695" "ABCA4_001132" "g.94574258T>A" "" "{PMID:Schulz 2017:28118664}" "" "c.317A>T p.(Y106F)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94108702T>A" "" "VUS" ""
"0000767469" "0" "90" "1" "94568687" "94568687" "subst" "1.62641E-5" "01695" "ABCA4_000024" "g.94568687G>A" "" "{PMID:Schulz 2017:28118664}" "" "c.454C>T p.(R152*)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94103131G>A" "" "pathogenic (recessive)" ""
"0000767470" "0" "50" "1" "94568686" "94568686" "subst" "0.00258122" "01695" "ABCA4_000212" "g.94568686C>T" "" "{PMID:Schulz 2017:28118664}" "" "c.455G>A p.(R152Q)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94103130C>T" "" "VUS" ""
"0000767471" "0" "10" "1" "94564483" "94564483" "subst" "0.0409724" "01695" "ABCA4_000009" "g.94564483C>T" "" "{PMID:Schulz 2017:28118664}" "" "c.635G>A p.(R212H)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94098927C>T" "" "benign" ""
"0000767472" "0" "50" "1" "94564462" "94564462" "subst" "4.06775E-5" "01695" "ABCA4_000380" "g.94564462C>G" "" "{PMID:Schulz 2017:28118664}" "" "c.656G>C p.(R219T)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94098906C>G" "" "VUS" ""
"0000767473" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Schulz 2017:28118664}" "" "c.768G>T p.[(V256V, L257Vfs*17)]" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000767474" "0" "70" "1" "94546177" "94546177" "subst" "0" "01695" "ABCA4_001047" "g.94546177A>C" "" "{PMID:Schulz 2017:28118664}" "" "c.956T>G p.(L319R)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94080621A>C" "" "likely pathogenic (recessive)" ""
"0000767475" "0" "50" "1" "94546152" "94546152" "subst" "0.000455685" "01695" "ABCA4_000942" "g.94546152G>A" "" "{PMID:Schulz 2017:28118664}" "" "c.981C>T p.(P327P)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94080596G>A" "" "VUS" ""
"0000767476" "0" "70" "1" "94546124" "94546124" "subst" "0" "01695" "ABCA4_000342" "g.94546124A>G" "" "{PMID:Schulz 2017:28118664}" "" "c.1009T>C p.(F337L)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94080568A>G" "" "likely pathogenic (recessive)" ""
"0000767477" "0" "50" "1" "94546104" "94546104" "subst" "0.00103684" "01695" "ABCA4_000941" "g.94546104A>G" "" "{PMID:Schulz 2017:28118664}" "" "c.1029T>C p.(N343N)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94080548A>G" "" "VUS" ""
"0000767478" "0" "90" "1" "94546047" "94546047" "subst" "0" "01695" "ABCA4_000150" "g.94546047A>T" "" "{PMID:Schulz 2017:28118664}" "" "c.1086T>A p.(Y362*)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94080491A>T" "" "pathogenic (recessive)" ""
"0000767479" "0" "90" "1" "94544895" "94544895" "subst" "1.62455E-5" "01695" "ABCA4_000329" "g.94544895G>A" "" "{PMID:Schulz 2017:28118664}" "" "c.1222C>T p.(R408*)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94079339G>A" "" "pathogenic (recessive)" ""
"0000767480" "0" "90" "1" "94544877" "94544877" "subst" "4.06124E-6" "01695" "ABCA4_000326" "g.94544877C>G" "" "{PMID:Schulz 2017:28118664}" "" "c.1239+1G>C p.(T367Sfs*6)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94079321C>G" "" "pathogenic (recessive)" ""
"0000767481" "0" "10" "1" "94544234" "94544234" "subst" "0.255245" "01695" "ABCA4_000322" "g.94544234T>C" "" "{PMID:Schulz 2017:28118664}" "" "c.1268A>G p.(H423R)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94078678T>C" "" "benign" ""
"0000767482" "0" "10" "1" "94544233" "94544233" "subst" "0.0868298" "01695" "ABCA4_000980" "g.94544233G>A" "" "{PMID:Schulz 2017:28118664}" "" "c.1269C>T p.(H423H)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94078677G>A" "" "benign" ""
"0000767483" "0" "90" "1" "94544209" "94544209" "subst" "0" "01695" "ABCA4_000113" "g.94544209C>T" "" "{PMID:Schulz 2017:28118664}" "" "c.1293G>A p.(W431*)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94078653C>T" "" "pathogenic (recessive)" ""
"0000767484" "0" "90" "1" "94543445" "94543445" "subst" "0" "01695" "ABCA4_001051" "g.94543445T>C" "" "{PMID:Schulz 2017:28118664}" "" "c.1357-2A>G p.(D453Gfs*14)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94077889T>C" "" "pathogenic (recessive)" ""
"0000767485" "0" "50" "1" "94543300" "94543300" "subst" "0.000682782" "01695" "ABCA4_000935" "g.94543300C>T" "" "{PMID:Schulz 2017:28118664}" "" "c.1500G>A p.(R500R)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94077744C>T" "" "VUS" ""
"0000767486" "0" "90" "1" "94528844" "94528844" "subst" "0" "01695" "ABCA4_001435" "g.94528844G>T" "" "{PMID:Schulz 2017:28118664}" "" "c.1584C>A p.(Y528*)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94063288G>T" "" "pathogenic (recessive)" ""
"0000767487" "0" "70" "1" "94528819" "94528819" "subst" "2.03128E-5" "01695" "ABCA4_000078" "g.94528819G>A" "" "{PMID:Schulz 2017:28118664}" "" "c.1609C>T p.(R537C)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94063263G>A" "" "likely pathogenic (recessive)" ""
"0000767488" "0" "50" "1" "94528814" "94528814" "subst" "0.000406237" "01695" "ABCA4_000933" "g.94528814G>A" "" "{PMID:Schulz 2017:28118664}" "" "c.1614C>T p.(A538A)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94063258G>A" "" "VUS" ""
"0000767489" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Schulz 2017:28118664}" "" "c.1622T>C p.(L541P)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000767490" "0" "50" "1" "94528774" "94528774" "subst" "0.00264827" "01695" "ABCA4_000298" "g.94528774C>T" "" "{PMID:Schulz 2017:28118664}" "" "c.1654G>A p.(V552I)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94063218C>T" "" "VUS" ""
"0000767491" "0" "50" "1" "94528736" "94528736" "subst" "0.000235562" "01695" "ABCA4_001237" "g.94528736T>C" "" "{PMID:Schulz 2017:28118664}" "" "c.1692A>G p.(P564P)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94063180T>C" "" "VUS" ""
"0000767492" "0" "70" "1" "94528713" "94528713" "subst" "4.87381E-5" "01695" "ABCA4_000072" "g.94528713C>T" "" "{PMID:Schulz 2017:28118664}" "" "c.1715G>A p.(R572Q)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94063157C>T" "" "likely pathogenic (recessive)" ""
"0000767493" "0" "70" "1" "94528709" "94528709" "subst" "0" "01695" "ABCA4_001049" "g.94528709C>T" "" "{PMID:Schulz 2017:28118664}" "" "c.1719G>A p.(M573I)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94063153C>T" "" "likely pathogenic (recessive)" ""
"0000767494" "0" "50" "1" "94528281" "94528281" "subst" "4.07292E-6" "01695" "ABCA4_000287" "g.94528281G>A" "" "{PMID:Schulz 2017:28118664}" "" "c.1789C>T p.(P597S)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94062725G>A" "" "VUS" ""
"0000767495" "0" "70" "1" "94528277" "94528277" "subst" "0" "01695" "ABCA4_001052" "g.94528277A>C" "" "{PMID:Schulz 2017:28118664}" "" "c.1793T>G p.(V598G)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94062721A>C" "" "likely pathogenic (recessive)" ""
"0000767496" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Schulz 2017:28118664}" "" "c.1804C>T p.(R602W)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94062710G>A" "" "pathogenic (recessive)" ""
"0000767497" "0" "90" "1" "94528251" "94528251" "subst" "2.84824E-5" "01695" "ABCA4_000281" "g.94528251C>T" "" "{PMID:Schulz 2017:28118664}" "" "c.1819G>A p.(G607R)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94062695C>T" "" "pathogenic (recessive)" ""
"0000767498" "0" "70" "1" "94528248" "94528248" "subst" "1.22148E-5" "01695" "ABCA4_000279" "g.94528248A>T" "" "{PMID:Schulz 2017:28118664}" "" "c.1822T>A p.(F608I)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94062692A>T" "" "likely pathogenic (recessive)" ""
"0000767499" "0" "70" "1" "94528179" "94528179" "subst" "0" "01695" "ABCA4_001433" "g.94528179C>T" "" "{PMID:Schulz 2017:28118664}" "" "c.1891G>A p.(G631R)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94062623C>T" "" "likely pathogenic (recessive)" ""
"0000767500" "0" "90" "1" "94528167" "94528167" "subst" "0" "01695" "ABCA4_000268" "g.94528167G>A" "" "{PMID:Schulz 2017:28118664}" "" "c.1903C>T p.(Q635*)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94062611G>A" "" "pathogenic (recessive)" ""
"0000767501" "0" "70" "1" "94528152" "94528152" "subst" "4.06613E-6" "01695" "ABCA4_002070" "g.94528152G>C" "" "{PMID:Schulz 2017:28118664}" "" "c.1918C>G p.(P640A)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94062596G>C" "" "likely pathogenic (recessive)" ""
"0000767502" "0" "50" "1" "94528142" "94528142" "subst" "0.00153303" "01695" "ABCA4_000125" "g.94528142A>C" "" "{PMID:Schulz 2017:28118664}" "" "c.1928T>G p.(V643G)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94062586A>C" "" "VUS" ""
"0000767503" "0" "90" "1" "94528132" "94528132" "subst" "4.06835E-6" "01695" "ABCA4_000773" "g.94528132C>T" "" "{PMID:Schulz 2017:28118664}" "" "c.1937+1G>A p.[(Y603_S646del, F647*)]" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94062576C>T" "" "pathogenic (recessive)" ""
"0000767504" "0" "90" "1" "94526296" "94526296" "subst" "1.64555E-5" "01695" "ABCA4_000768" "g.94526296G>A" "" "{PMID:Schulz 2017:28118664}" "" "c.1957C>T p.(R653C)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94060740G>A" "" "pathogenic (recessive)" ""
"0000767505" "0" "50" "1" "94526289" "94526289" "subst" "0.000417202" "01695" "ABCA4_000767" "g.94526289A>C" "" "{PMID:Schulz 2017:28118664}" "" "c.1964T>G p.(F655C)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94060733A>C" "" "VUS" ""
"0000767506" "0" "90" "1" "94526212" "94526212" "subst" "1.22012E-5" "01695" "ABCA4_000075" "g.94526212G>A" "" "{PMID:Schulz 2017:28118664}" "" "c.2041C>T p.(R681*)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94060656G>A" "" "pathogenic (recessive)" ""
"0000767507" "0" "90" "1" "94526092" "94526092" "subst" "0" "01695" "ABCA4_000749" "g.94526092C>A" "" "{PMID:Schulz 2017:28118664}" "" "c.2160+1G>T p.(?)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94060536C>A" "" "pathogenic (recessive)" ""
"0000767508" "0" "70" "1" "94522248" "94522248" "subst" "0" "01695" "ABCA4_000741" "g.94522248C>T" "" "{PMID:Schulz 2017:28118664}" "" "c.2291G>A p.(C764Y)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94056692C>T" "" "likely pathogenic (recessive)" ""
"0000767509" "0" "70" "1" "94522239" "94522239" "subst" "2.03305E-5" "01695" "ABCA4_000736" "g.94522239A>T" "" "{PMID:Schulz 2017:28118664}" "" "c.2300T>A p.(V767D)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94056683A>T" "" "likely pathogenic (recessive)" ""
"0000767510" "0" "90" "1" "94520690" "94520690" "subst" "2.03102E-5" "01695" "ABCA4_000149" "g.94520690C>T" "" "{PMID:Schulz 2017:28118664}" "" "c.2564G>A p.(W855*)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94055134C>T" "" "pathogenic (recessive)" ""
"0000767511" "0" "50" "1" "94517266" "94517266" "subst" "0.00217349" "01695" "ABCA4_001057" "g.94517266G>C" "" "{PMID:Schulz 2017:28118664}" "" "c.2588-12C>G p.(?)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94051710G>C" "" "VUS" ""
"0000767512" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Schulz 2017:28118664}" "" "c.2588G>C p.[(G863A, G863del)]" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000767513" "0" "70" "1" "94517233" "94517233" "subst" "4.06161E-6" "01695" "ABCA4_000706" "g.94517233G>A" "" "{PMID:Schulz 2017:28118664}" "" "c.2609C>T p.(P870L)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94051677G>A" "" "likely pathogenic (recessive)" ""
"0000767514" "0" "50" "1" "94514477" "94514477" "subst" "0.00118992" "01695" "ABCA4_000700" "g.94514477G>A" "" "{PMID:Schulz 2017:28118664}" "" "c.2690C>T p.(T897I)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94048921G>A" "" "VUS" ""
"0000767515" "0" "90" "1" "94514475" "94514475" "subst" "0" "01695" "ABCA4_001995" "g.94514475C>A" "" "{PMID:Schulz 2017:28118664}" "" "c.2692G>T p.(E898*)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94048919C>A" "" "pathogenic (recessive)" ""
"0000767516" "0" "10" "1" "94512565" "94512565" "subst" "0.030364" "01695" "ABCA4_000002" "g.94512565C>T" "" "{PMID:Schulz 2017:28118664}" "" "c.2828G>A p.(R943Q)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94047009C>T" "" "benign" ""
"0000767517" "0" "70" "1" "94512518" "94512518" "subst" "1.62517E-5" "01695" "ABCA4_000687" "g.94512518T>C" "" "{PMID:Schulz 2017:28118664}" "" "c.2875A>G p.(T959A)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94046962T>C" "" "likely pathogenic (recessive)" ""
"0000767518" "0" "50" "1" "94512516" "94512516" "subst" "0.000446984" "01695" "ABCA4_000927" "g.94512516G>A" "" "{PMID:Schulz 2017:28118664}" "" "c.2877C>T p.(T959T)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94046960G>A" "" "VUS" ""
"0000767519" "0" "90" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Schulz 2017:28118664}" "" "c.2894A>G p.(N965S)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94046943T>C" "" "pathogenic (recessive)" ""
"0000767520" "0" "70" "1" "94510310" "94510310" "subst" "4.06088E-6" "01695" "ABCA4_001027" "g.94510310A>G" "" "{PMID:Schulz 2017:28118664}" "" "c.2919-10T>C p.(?)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94044754A>G" "" "likely pathogenic (recessive)" ""
"0000767521" "0" "70" "1" "94510279" "94510279" "subst" "0" "01695" "ABCA4_001969" "g.94510279C>G" "" "{PMID:Schulz 2017:28118664}" "" "c.2940G>C p.(L980F)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94044723C>G" "" "likely pathogenic (recessive)" ""
"0000767522" "0" "70" "1" "94509018" "94509018" "subst" "8.12869E-6" "01695" "ABCA4_000659" "g.94509018C>T" "" "{PMID:Schulz 2017:28118664}" "" "c.3064G>A p.(E1022K)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94043462C>T" "" "likely pathogenic (recessive)" ""
"0000767523" "0" "90" "1" "94508997" "94508997" "subst" "0" "01695" "ABCA4_000112" "g.94508997G>A" "" "{PMID:Schulz 2017:28118664}" "" "c.3085C>T p.(Q1029*)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94043441G>A" "" "pathogenic (recessive)" ""
"0000767524" "0" "90" "1" "94508991" "94508991" "del" "0" "01695" "ABCA4_001953" "g.94508991del" "" "{PMID:Schulz 2017:28118664}" "" "c.3093delA p.(G1032Efs*52)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94043435del" "" "pathogenic (recessive)" ""
"0000767525" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Schulz 2017:28118664}" "" "c.3113C>T p.(A1038V)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000767526" "0" "90" "1" "94508384" "94508384" "subst" "0" "01695" "ABCA4_000641" "g.94508384T>G" "" "{PMID:Schulz 2017:28118664}" "" "c.3261A>C p.(E1087D)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94042828T>G" "" "pathogenic (recessive)" ""
"0000767527" "0" "70" "1" "94508373" "94508373" "subst" "0" "01695" "ABCA4_000639" "g.94508373C>T" "" "{PMID:Schulz 2017:28118664}" "" "c.3272G>A p.(G1091E)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94042817C>T" "" "likely pathogenic (recessive)" ""
"0000767528" "0" "90" "1" "94508356" "94508356" "subst" "0" "01695" "ABCA4_000635" "g.94508356T>A" "" "{PMID:Schulz 2017:28118664}" "" "c.3289A>T p.(R1097*)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94042800T>A" "" "pathogenic (recessive)" ""
"0000767529" "0" "90" "1" "94508353" "94508353" "subst" "2.8431E-5" "01695" "ABCA4_000141" "g.94508353G>A" "" "{PMID:Schulz 2017:28118664}" "" "c.3292C>T p.(R1098C)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94042797G>A" "" "pathogenic (recessive)" ""
"0000767530" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Schulz 2017:28118664}" "" "c.3322C>T p.(R1108C)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000767531" "0" "70" "1" "94508322" "94508322" "subst" "0" "01695" "ABCA4_001920" "g.94508322C>A" "" "{PMID:Schulz 2017:28118664}" "" "c.3323G>T p.(R1108L)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94042766C>A" "" "likely pathogenic (recessive)" ""
"0000767532" "0" "50" "1" "94506910" "94506910" "subst" "4.06098E-6" "01695" "ABCA4_000105" "g.94506910A>G" "" "{PMID:Schulz 2017:28118664}" "" "c.3377T>C p.(L1126P)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94041354A>G" "" "VUS" ""
"0000767533" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Schulz 2017:28118664}" "" "c.3386G>T p.(R1129L)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000767534" "0" "70" "1" "94506805" "94506805" "subst" "2.03051E-5" "01695" "ABCA4_001294" "g.94506805C>T" "" "{PMID:Schulz 2017:28118664}" "" "c.3482G>A p.(R1161H)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94041249C>T" "" "likely pathogenic (recessive)" ""
"0000767535" "0" "90" "1" "94505674" "94505677" "dup" "0" "01695" "ABCA4_000609" "g.94505674_94505677dup" "" "{PMID:Schulz 2017:28118664}" "" "c.3529_3532dupTGCA p.(S1178Mfs*6)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94040118_94040121dup" "" "pathogenic (recessive)" ""
"0000767536" "0" "10" "1" "94505604" "94505604" "subst" "0.00645586" "01695" "ABCA4_000092" "g.94505604A>C" "" "{PMID:Schulz 2017:28118664}" "" "c.3602T>G p.(L1201R)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94040048A>C" "" "benign" ""
"0000767537" "0" "50" "1" "94502756" "94502756" "subst" "0.000422575" "01695" "ABCA4_000032" "g.94502756G>A" "" "{PMID:Schulz 2017:28118664}" "" "c.3758C>T p.(T1253M)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94037200G>A" "" "VUS" ""
"0000767538" "0" "90" "1" "94502706" "94502706" "subst" "0" "01695" "ABCA4_000597" "g.94502706C>A" "" "{PMID:Schulz 2017:28118664}" "" "c.3808G>T p.(E1270*)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94037150C>A" "" "pathogenic (recessive)" ""
"0000767539" "0" "70" "1" "94502701" "94502701" "subst" "0" "01695" "ABCA4_001870" "g.94502701C>T" "" "{PMID:Schulz 2017:28118664}" "" "c.3813G>A p.(?)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94037145C>T" "" "likely pathogenic (recessive)" ""
"0000767540" "0" "70" "1" "94502343" "94502343" "subst" "0" "01695" "ABCA4_001867" "g.94502343A>G" "" "{PMID:Schulz 2017:28118664}" "" "c.3815T>C p.(I1272T)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94036787A>G" "" "likely pathogenic (recessive)" ""
"0000767541" "0" "90" "1" "94497591" "94497591" "subst" "0" "01695" "ABCA4_000587" "g.94497591G>A" "" "{PMID:Schulz 2017:28118664}" "" "c.3871C>T p.(Q1291*)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94032035G>A" "" "pathogenic (recessive)" ""
"0000767542" "0" "50" "1" "94497562" "94497562" "subst" "0" "01695" "ABCA4_000917" "g.94497562T>C" "" "{PMID:Schulz 2017:28118664}" "" "c.3900A>G p.(R1300R)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94032006T>C" "" "VUS" ""
"0000767543" "0" "50" "1" "94496665" "94496665" "subst" "3.25206E-5" "01695" "ABCA4_001220" "g.94496665C>T" "" "{PMID:Schulz 2017:28118664}" "" "c.4140G>A p.(P1380P)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94031109C>T" "" "VUS" ""
"0000767544" "0" "90" "1" "94496610" "94496610" "subst" "1.21877E-5" "01695" "ABCA4_000572" "g.94496610C>A" "" "{PMID:Schulz 2017:28118664}" "" "c.4195G>T p.(E1399*)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94031054C>A" "" "pathogenic (recessive)" ""
"0000767545" "0" "50" "1" "94496610" "94496610" "subst" "2.03128E-5" "01695" "ABCA4_000571" "g.94496610C>T" "" "{PMID:Schulz 2017:28118664}" "" "c.4195G>A p.(E1399K)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94031054C>T" "" "VUS" ""
"0000767546" "0" "30" "1" "94496602" "94496602" "subst" "0.0234538" "01695" "ABCA4_000913" "g.94496602G>T" "" "{PMID:Schulz 2017:28118664}" "" "c.4203C>A p.(P1401P)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94031046G>T" "" "likely benign" ""
"0000767547" "0" "70" "1" "94496583" "94496583" "subst" "2.03092E-5" "01695" "ABCA4_000190" "g.94496583A>G" "" "{PMID:Schulz 2017:28118664}" "" "c.4222T>C p.(W1408R)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94031027A>G" "" "likely pathogenic (recessive)" ""
"0000767548" "0" "90" "1" "94496571" "94496571" "subst" "4.06174E-6" "01695" "ABCA4_000111" "g.94496571G>A" "" "{PMID:Schulz 2017:28118664}" "" "c.4234C>T p.(Q1412*)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94031015G>A" "" "pathogenic (recessive)" ""
"0000767549" "0" "70" "1" "94496547" "94496547" "subst" "1.21904E-5" "01695" "ABCA4_000560" "g.94496547C>T" "" "{PMID:Schulz 2017:28118664}" "" "c.4253+5G>A p.(?)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94030991C>T" "" "likely pathogenic (recessive)" ""
"0000767550" "0" "90" "1" "94496083" "94496083" "subst" "0" "01695" "ABCA4_001835" "g.94496083C>G" "" "{PMID:Schulz 2017:28118664}" "" "c.4254-1G>C p.(?)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94030527C>G" "" "pathogenic (recessive)" ""
"0000767551" "0" "50" "1" "94496039" "94496039" "subst" "0.00157963" "01695" "ABCA4_000552" "g.94496039C>T" "" "{PMID:Schulz 2017:28118664}" "" "c.4297G>A p.(V1433I)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94030483C>T" "" "VUS" ""
"0000767552" "0" "50" "1" "94496008" "94496008" "subst" "2.03056E-5" "01695" "ABCA4_000148" "g.94496008C>T" "" "{PMID:Schulz 2017:28118664}" "" "c.4328G>A p.(R1443H)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94030452C>T" "" "VUS" ""
"0000767553" "0" "70" "1" "94495989" "94495989" "subst" "8.12229E-6" "01695" "ABCA4_001090" "g.94495989C>A" "" "{PMID:Schulz 2017:28118664}" "" "c.4347G>T p.(W1449C)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94030433C>A" "" "likely pathogenic (recessive)" ""
"0000767554" "0" "90" "1" "94495983" "94495983" "subst" "8.12348E-6" "01695" "ABCA4_000547" "g.94495983C>T" "" "{PMID:Schulz 2017:28118664}" "" "c.4352+1G>A p.(S1418_P1451delinsR)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94030427C>T" "" "pathogenic (recessive)" ""
"0000767555" "0" "90" "1" "94495186" "94495186" "subst" "0" "01695" "ABCA4_001817" "g.94495186C>A" "" "{PMID:Schulz 2017:28118664}" "" "c.4354G>T p.(E1452*)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94029630C>A" "" "pathogenic (recessive)" ""
"0000767556" "0" "70" "1" "94495083" "94495083" "subst" "0.000124542" "01695" "ABCA4_000542" "g.94495083G>A" "" "{PMID:Schulz 2017:28118664}" "" "c.4457C>T p.(P1486L)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94029527G>A" "" "likely pathogenic (recessive)" ""
"0000767557" "0" "70" "1" "94495077" "94495077" "subst" "0" "01695" "ABCA4_000184" "g.94495077C>T" "" "{PMID:Schulz 2017:28118664}" "" "c.4463G>A p.(C1488Y)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94029521C>T" "" "likely pathogenic (recessive)" ""
"0000767558" "0" "70" "1" "94495078" "94495078" "subst" "8.37044E-6" "01695" "ABCA4_000042" "g.94495078A>G" "" "{PMID:Schulz 2017:28118664}" "" "c.4462T>C p.(C1488R)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94029522A>G" "" "likely pathogenic (recessive)" ""
"0000767559" "0" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "" "{PMID:Schulz 2017:28118664}" "" "c.4469G>A p.[(C1490Y, C1490Efs*12)]" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94029515C>T" "" "likely pathogenic (recessive)" ""
"0000767560" "0" "50" "1" "94495021" "94495021" "subst" "0.000161713" "01695" "ABCA4_000538" "g.94495021C>T" "" "{PMID:Schulz 2017:28118664}" "" "c.4519G>A p.(G1507R)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94029465C>T" "" "VUS" ""
"0000767561" "0" "30" "1" "94493231" "94493231" "subst" "0" "01695" "ABCA4_000903" "g.94493231G>T" "" "{PMID:Schulz 2017:28118664}" "" "c.4539+1770C>A p.(?)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94027675G>T" "" "likely benign" ""
"0000767562" "0" "50" "1" "94492973" "94492973" "subst" "0" "01695" "ABCA4_000030" "g.94492973G>A" "" "{PMID:Schulz 2017:28118664}" "" "c.4539+2028C>T p.(?)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94027417G>A" "" "VUS" ""
"0000767563" "0" "50" "1" "94492773" "94492773" "subst" "0" "01695" "ABCA4_001796" "g.94492773T>C" "" "{PMID:Schulz 2017:28118664}" "" "c.4540-2169A>G p.(?)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94027217T>C" "" "VUS" ""
"0000767564" "0" "50" "1" "94492681" "94492681" "subst" "0" "01695" "ABCA4_001795" "g.94492681G>A" "" "{PMID:Schulz 2017:28118664}" "" "c.4540-2077C>T p.(?)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94027125G>A" "" "VUS" ""
"0000767565" "0" "50" "1" "94492640" "94492640" "subst" "0" "01695" "ABCA4_001794" "g.94492640G>T" "" "{PMID:Schulz 2017:28118664}" "" "c.4540-2036C>A p.(?)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94027084G>T" "" "VUS" ""
"0000767566" "0" "70" "1" "94490550" "94490550" "subst" "0.000105588" "01695" "ABCA4_000523" "g.94490550C>T" "" "{PMID:Schulz 2017:28118664}" "" "c.4594G>A p.(D1532N)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94024994C>T" "" "likely pathogenic (recessive)" ""
"0000767567" "0" "70" "1" "94490534" "94490534" "subst" "0.000125895" "01695" "ABCA4_000520" "g.94490534G>A" "" "{PMID:Schulz 2017:28118664}" "" "c.4610C>T p.(T1537M)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94024978G>A" "" "likely pathogenic (recessive)" ""
"0000767568" "0" "30" "1" "94490533" "94490533" "subst" "0.00112903" "01695" "ABCA4_000900" "g.94490533C>T" "" "{PMID:Schulz 2017:28118664}" "" "c.4611G>A p.(T1537T)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94024977C>T" "" "likely benign" ""
"0000767569" "0" "70" "1" "94488974" "94488974" "subst" "0" "01695" "ABCA4_001778" "g.94488974G>A" "" "{PMID:Schulz 2017:28118664}" "" "c.4635C>T p.(S1545S)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94023418G>A" "" "likely pathogenic (recessive)" ""
"0000767570" "0" "90" "1" "94488971" "94488971" "del" "0" "01695" "ABCA4_001776" "g.94488971del" "" "{PMID:Schulz 2017:28118664}" "" "c.4640delA p.(K1547Rfs*34)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94023415del" "" "pathogenic (recessive)" ""
"0000767571" "0" "50" "1" "94487490" "94487490" "subst" "0.00122268" "01695" "ABCA4_000506" "g.94487490A>G" "" "{PMID:Schulz 2017:28118664}" "" "c.4685T>C p.(I1562T)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94021934A>G" "" "VUS" ""
"0000767572" "0" "50" "1" "94487436" "94487436" "subst" "2.03047E-5" "01695" "ABCA4_000498" "g.94487436A>G" "" "{PMID:Schulz 2017:28118664}" "" "c.4739T>C p.(L1580S)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94021880A>G" "" "VUS" ""
"0000767573" "0" "50" "1" "94487404" "94487404" "subst" "0.00244055" "01695" "ABCA4_000497" "g.94487404C>T" "" "{PMID:Schulz 2017:28118664}" "" "c.4771G>A p.(G1591R)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94021848C>T" "" "VUS" ""
"0000767574" "0" "70" "1" "94487399" "94487399" "subst" "7.30959E-5" "01695" "ABCA4_000038" "g.94487399T>C" "" "{PMID:Schulz 2017:28118664}" "" "c.4773+3A>G p.(Y1557Afs*18)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94021843T>C" "" "likely pathogenic (recessive)" ""
"0000767575" "0" "70" "1" "94487251" "94487251" "subst" "2.85679E-5" "01695" "ABCA4_000490" "g.94487251G>T" "" "{PMID:Schulz 2017:28118664}" "" "c.4793C>A p.(A1598D)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94021695G>T" "" "likely pathogenic (recessive)" ""
"0000767576" "0" "70" "1" "94486896" "94486896" "subst" "3.65562E-5" "01695" "ABCA4_000085" "g.94486896G>A" "" "{PMID:Schulz 2017:28118664}" "" "c.4918C>T p.(R1640W)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94021340G>A" "" "likely pathogenic (recessive)" ""
"0000767577" "0" "70" "1" "94486895" "94486895" "subst" "3.24923E-5" "01695" "ABCA4_000484" "g.94486895C>T" "" "{PMID:Schulz 2017:28118664}" "" "c.4919G>A p.[(V1617_R1640del, R1640Q)]" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94021339C>T" "" "likely pathogenic (recessive)" ""
"0000767578" "0" "70" "1" "94486835" "94486835" "subst" "0" "01695" "ABCA4_001018" "g.94486835G>A" "" "{PMID:Schulz 2017:28118664}" "" "c.4979C>T p.(P1660L)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94021279G>A" "" "likely pathogenic (recessive)" ""
"0000767579" "0" "90" "1" "94486794" "94486794" "subst" "0" "01695" "ABCA4_000478" "g.94486794A>G" "" "{PMID:Schulz 2017:28118664}" "" "c.5018+2T>C p.(?)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94021238A>G" "" "pathogenic (recessive)" ""
"0000767580" "0" "50" "1" "94485269" "94485269" "subst" "0" "01695" "ABCA4_000146" "g.94485269A>G" "" "{PMID:Schulz 2017:28118664}" "" "c.5065T>C p.(S1689P)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94019713A>G" "" "VUS" ""
"0000767581" "0" "70" "1" "94485247" "94485247" "subst" "4.07647E-5" "01695" "ABCA4_000475" "g.94485247C>T" "" "{PMID:Schulz 2017:28118664}" "" "c.5087G>A p.(S1696N)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94019691C>T" "" "likely pathogenic (recessive)" ""
"0000767582" "0" "70" "1" "94485220" "94485220" "subst" "4.08938E-6" "01695" "ABCA4_000470" "g.94485220C>A" "" "{PMID:Schulz 2017:28118664}" "" "c.5114G>T p.(R1705L)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94019664C>A" "" "likely pathogenic (recessive)" ""
"0000767583" "0" "70" "1" "94485197" "94485197" "subst" "1.23624E-5" "01695" "ABCA4_001496" "g.94485197G>T" "" "{PMID:Schulz 2017:28118664}" "" "c.5137C>A p.(Q1713K)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94019641G>T" "" "likely pathogenic (recessive)" ""
"0000767584" "0" "70" "1" "94485181" "94485181" "subst" "0" "01695" "ABCA4_001726" "g.94485181A>C" "" "{PMID:Schulz 2017:28118664}" "" "c.5153T>G p.(V1718G)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94019625A>C" "" "likely pathogenic (recessive)" ""
"0000767585" "0" "90" "1" "94485145" "94485145" "subst" "0" "01695" "ABCA4_001015" "g.94485145C>T" "" "{PMID:Schulz 2017:28118664}" "" "c.5189G>A p.(W1730*)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94019589C>T" "" "pathogenic (recessive)" ""
"0000767586" "0" "90" "1" "94485137" "94485137" "subst" "0" "01695" "ABCA4_000464" "g.94485137C>T" "" "{PMID:Schulz 2017:28118664}" "" "c.5196+1G>A p.(?)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94019581C>T" "" "pathogenic (recessive)" ""
"0000767587" "0" "90" "1" "94485136" "94485136" "subst" "0" "01695" "ABCA4_000189" "g.94485136A>G" "" "{PMID:Schulz 2017:28118664}" "" "c.5196+2T>C p.(?)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94019580A>G" "" "pathogenic (recessive)" ""
"0000767588" "0" "50" "1" "94484239" "94484239" "subst" "0" "01695" "ABCA4_001723" "g.94484239G>A" "" "{PMID:Schulz 2017:28118664}" "" "c.5196+899C>T p.(?)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94018683G>A" "" "VUS" ""
"0000767589" "0" "70" "1" "94484125" "94484125" "subst" "0" "01695" "ABCA4_001210" "g.94484125T>C" "" "{PMID:Schulz 2017:28118664}" "" "c.5196+1013A>G p.(?)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94018569T>C" "" "likely pathogenic (recessive)" ""
"0000767590" "0" "50" "1" "94484123" "94484123" "subst" "0" "01695" "ABCA4_001722" "g.94484123T>C" "" "{PMID:Schulz 2017:28118664}" "" "c.5196+1015A>G p.(?)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94018567T>C" "" "VUS" ""
"0000767591" "0" "90" "1" "94484082" "94484082" "subst" "0" "01695" "ABCA4_000028" "g.94484082T>C" "" "{PMID:Schulz 2017:28118664}" "" "c.5196+1056A>G p.(?)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94018526T>C" "" "pathogenic (recessive)" ""
"0000767592" "0" "50" "1" "94484061" "94484061" "del" "0" "01695" "ABCA4_001721" "g.94484061del" "" "{PMID:Schulz 2017:28118664}" "" "c.5196+1078delA p.(?)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94018505del" "" "VUS" ""
"0000767593" "0" "70" "1" "94481319" "94481319" "subst" "0" "01695" "ABCA4_000454" "g.94481319A>G" "" "{PMID:Schulz 2017:28118664}" "" "c.5288T>C p.(L1763P)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94015763A>G" "" "likely pathogenic (recessive)" ""
"0000767594" "0" "90" "1" "94481294" "94481294" "subst" "0" "01695" "ABCA4_000110" "g.94481294C>T" "" "{PMID:Schulz 2017:28118664}" "" "c.5312+1G>A p.(N1734Gfs*14)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94015738C>T" "" "pathogenic (recessive)" ""
"0000767595" "0" "70" "1" "94480241" "94480241" "subst" "7.71705E-5" "01695" "ABCA4_000446" "g.94480241G>A" "" "{PMID:Schulz 2017:28118664}" "" "c.5318C>T p.(A1773V)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94014685G>A" "" "likely pathogenic (recessive)" ""
"0000767596" "0" "70" "1" "94480196" "94480196" "subst" "0" "01695" "ABCA4_001696" "g.94480196G>A" "" "{PMID:Schulz 2017:28118664}" "" "c.5363C>T p.(P1788L)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94014640G>A" "" "likely pathogenic (recessive)" ""
"0000767597" "0" "70" "1" "94480178" "94480178" "subst" "2.43692E-5" "01695" "ABCA4_000005" "g.94480178G>T" "" "{PMID:Schulz 2017:28118664}" "" "c.5381C>A p.(A1794D)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94014622G>T" "" "likely pathogenic (recessive)" ""
"0000767598" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Schulz 2017:28118664}" "" "c.5461-10T>C p.[(T1821Vfs*13, T1821Dfs*6)]" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000767599" "0" "50" "1" "94476924" "94476924" "subst" "1.62614E-5" "01695" "ABCA4_001689" "g.94476924G>A" "" "{PMID:Schulz 2017:28118664}" "" "c.5478C>T p.(N1826N)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94011368G>A" "" "VUS" ""
"0000767600" "0" "70" "1" "94476890" "94476890" "subst" "4.06227E-6" "01695" "ABCA4_000434" "g.94476890G>C" "" "{PMID:Schulz 2017:28118664}" "" "c.5512C>G p.(H1838D)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94011334G>C" "" "likely pathogenic (recessive)" ""
"0000767601" "0" "70" "1" "94476890" "94476890" "subst" "4.06227E-6" "01695" "ABCA4_000126" "g.94476890G>T" "" "{PMID:Schulz 2017:28118664}" "" "c.5512C>A p.(H1838N)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94011334G>T" "" "likely pathogenic (recessive)" ""
"0000767602" "0" "70" "1" "94476889" "94476889" "subst" "0" "01695" "ABCA4_000892" "g.94476889T>C" "" "{PMID:Schulz 2017:28118664}" "" "c.5513A>G p.(H1838R)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94011333T>C" "" "likely pathogenic (recessive)" ""
"0000767603" "0" "70" "1" "94476853" "94476853" "subst" "4.06243E-6" "01695" "ABCA4_000429" "g.94476853A>G" "" "{PMID:Schulz 2017:28118664}" "" "c.5549T>C p.(L1850P)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94011297A>G" "" "likely pathogenic (recessive)" ""
"0000767604" "0" "70" "1" "94476844" "94476844" "subst" "0" "01695" "ABCA4_001683" "g.94476844G>T" "" "{PMID:Schulz 2017:28118664}" "" "c.5558C>A p.(A1853D)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94011288G>T" "" "likely pathogenic (recessive)" ""
"0000767605" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Schulz 2017:28118664}" "" "c.5603A>T p.(N1868I)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000767606" "0" "70" "1" "94476464" "94476464" "subst" "4.06266E-5" "01695" "ABCA4_001205" "g.94476464G>A" "" "{PMID:Schulz 2017:28118664}" "" "c.5606C>T p.(P1869L)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94010908G>A" "" "likely pathogenic (recessive)" ""
"0000767607" "0" "70" "1" "94476414" "94476414" "subst" "0" "01695" "ABCA4_001670" "g.94476414C>T" "" "{PMID:Schulz 2017:28118664}" "" "c.5656G>A p.(G1886R)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94010858C>T" "" "likely pathogenic (recessive)" ""
"0000767608" "0" "50" "1" "94476388" "94476388" "subst" "0.215397" "01695" "ABCA4_000890" "g.94476388C>G" "" "{PMID:Schulz 2017:28118664}" "" "c.5682G>C p.(L1894L)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94010832C>G" "" "VUS" ""
"0000767609" "0" "50" "1" "94476377" "94476377" "subst" "0.00160473" "01695" "ABCA4_000411" "g.94476377C>T" "" "{PMID:Schulz 2017:28118664}" "" "c.5693G>A p.(R1898H)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94010821C>T" "" "VUS" ""
"0000767610" "0" "70" "1" "94476352" "94476352" "subst" "4.46955E-5" "01695" "ABCA4_001664" "g.94476352G>A" "" "{PMID:Schulz 2017:28118664}" "" "c.5714+4C>T p.(?)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94010796G>A" "" "likely pathogenic (recessive)" ""
"0000767611" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Schulz 2017:28118664}" "" "c.5714+5G>A p.(E1863Lfs*33)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000767612" "0" "50" "1" "94474328" "94474328" "subst" "0.189409" "01695" "ABCA4_000886" "g.94474328T>C" "" "{PMID:Schulz 2017:28118664}" "" "c.5814A>G p.(L1938L)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008772T>C" "" "VUS" ""
"0000767613" "0" "70" "1" "94474314" "94474314" "subst" "0" "01695" "ABCA4_000406" "g.94474314A>G" "" "{PMID:Schulz 2017:28118664}" "" "c.5828T>C p.(L1943P)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008758A>G" "" "likely pathogenic (recessive)" ""
"0000767614" "0" "50" "1" "94473864" "94473864" "subst" "0.173865" "01695" "ABCA4_000885" "g.94473864C>T" "" "{PMID:Schulz 2017:28118664}" "" "c.5836-11G>A p.(?)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008308C>T" "" "VUS" ""
"0000767615" "0" "10" "1" "94473846" "94473846" "subst" "0.0315833" "01695" "ABCA4_000001" "g.94473846G>A" "" "{PMID:Schulz 2017:28118664}" "" "c.5843C>T p.(P1948L)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008290G>A" "" "benign" ""
"0000767616" "0" "50" "1" "94473845" "94473845" "subst" "0.172485" "01695" "ABCA4_000884" "g.94473845T>C" "" "{PMID:Schulz 2017:28118664}" "" "c.5844A>G p.(P1948P)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008289T>C" "" "VUS" ""
"0000767617" "0" "70" "1" "94473808" "94473808" "subst" "8.52861E-5" "01695" "ABCA4_000196" "g.94473808C>T" "" "{PMID:Schulz 2017:28118664}" "" "c.5881G>A p.(G1961R)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008252C>T" "" "likely pathogenic (recessive)" ""
"0000767618" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Schulz 2017:28118664}" "" "c.5882G>A p.(G1961E)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000767619" "0" "50" "1" "94473287" "94473287" "subst" "0.00293818" "01695" "ABCA4_000395" "g.94473287G>A" "" "{PMID:Schulz 2017:28118664}" "" "c.5908C>T p.(L1970F)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94007731G>A" "" "VUS" ""
"0000767620" "0" "70" "1" "94473286" "94473286" "subst" "0" "01695" "ABCA4_001639" "g.94473286A>G" "" "{PMID:Schulz 2017:28118664}" "" "c.5909T>C p.(L1970P)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94007730A>G" "" "likely pathogenic (recessive)" ""
"0000767621" "0" "90" "1" "94473278" "94473278" "del" "3.25908E-5" "01695" "ABCA4_000392" "g.94473278del" "" "{PMID:Schulz 2017:28118664}" "" "c.5917delG p.(V1973*)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94007722del" "" "pathogenic (recessive)" ""
"0000767622" "0" "70" "1" "94473259" "94473259" "subst" "0" "01695" "ABCA4_001045" "g.94473259G>A" "" "{PMID:Schulz 2017:28118664}" "" "c.5936C>T p.(T1979I)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94007703G>A" "" "likely pathogenic (recessive)" ""
"0000767623" "0" "70" "1" "94473253" "94473253" "subst" "0" "01695" "ABCA4_001636" "g.94473253G>C" "" "{PMID:Schulz 2017:28118664}" "" "c.5942C>G p.(T1981R)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94007697G>C" "" "likely pathogenic (recessive)" ""
"0000767624" "0" "50" "1" "94473222" "94473222" "subst" "8.14578E-6" "01695" "ABCA4_001043" "g.94473222C>G" "" "{PMID:Schulz 2017:28118664}" "" "c.5973G>C p.(V1991V)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94007666C>G" "" "VUS" ""
"0000767625" "0" "70" "1" "94471067" "94471067" "subst" "4.06237E-6" "01695" "ABCA4_001001" "g.94471067A>G" "" "{PMID:Schulz 2017:28118664}" "" "c.6077T>C p.(L2026P)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94005511A>G" "" "likely pathogenic (recessive)" ""
"0000767626" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Schulz 2017:28118664}" "" "c.6079C>T p.(L2027F)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic (recessive)" ""
"0000767627" "0" "70" "1" "94471055" "94471055" "subst" "0.00035346" "01695" "ABCA4_000029" "g.94471055C>T" "" "{PMID:Schulz 2017:28118664}" "" "c.6089G>A p.(R2030Q)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94005499C>T" "" "likely pathogenic (recessive)" ""
"0000767628" "0" "70" "1" "94471032" "94471032" "subst" "1.62553E-5" "01695" "ABCA4_000792" "g.94471032G>A" "" "{PMID:Schulz 2017:28118664}" "" "c.6112C>T p.(R2038W)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94005476G>A" "" "likely pathogenic (recessive)" ""
"0000767629" "0" "50" "1" "94467548" "94467548" "subst" "0.00295661" "01695" "ABCA4_000788" "g.94467548C>G" "" "{PMID:Schulz 2017:28118664}" "" "c.6148G>C p.(V2050L)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94001992C>G" "" "VUS" ""
"0000767630" "0" "70" "1" "94467467" "94467467" "subst" "4.06164E-6" "01695" "ABCA4_000780" "g.94467467G>A" "" "{PMID:Schulz 2017:28118664}" "" "c.6229C>T p.(R2077W)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94001911G>A" "" "likely pathogenic (recessive)" ""
"0000767631" "0" "70" "1" "94467466" "94467466" "subst" "8.12328E-6" "01695" "ABCA4_000779" "g.94467466C>T" "" "{PMID:Schulz 2017:28118664}" "" "c.6230G>A p.(R2077Q)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94001910C>T" "" "likely pathogenic (recessive)" ""
"0000767632" "0" "50" "1" "94467447" "94467447" "subst" "0.0757472" "01695" "ABCA4_000954" "g.94467447G>A" "" "{PMID:Schulz 2017:28118664}" "" "c.6249C>T p.(I2083I)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94001891G>A" "" "VUS" ""
"0000767633" "0" "50" "1" "94467441" "94467441" "subst" "0.0033225" "01695" "ABCA4_001203" "g.94467441G>A" "" "{PMID:Schulz 2017:28118664}" "" "c.6255C>T p.(L2085L)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94001885G>A" "" "VUS" ""
"0000767634" "0" "90" "1" "94466663" "94466664" "delins" "0" "01695" "ABCA4_001048" "g.94466663_94466664delinsCT" "" "{PMID:Schulz 2017:28118664}" "" "c.6283-3_6283-2delinsAG p.(D2095Gfs*2)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94001107_94001108delinsCT" "" "pathogenic (recessive)" ""
"0000767635" "0" "10" "1" "94466659" "94466659" "subst" "0.155961" "01695" "ABCA4_000953" "g.94466659A>G" "" "{PMID:Schulz 2017:28118664}" "" "c.6285T>C p.(D2095D)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94001103A>G" "" "benign" ""
"0000767636" "0" "90" "1" "94466628" "94466628" "subst" "0.000109748" "01695" "ABCA4_000094" "g.94466628G>A" "" "{PMID:Schulz 2017:28118664}" "" "c.6316C>T p.(R2106C)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94001072G>A" "" "pathogenic (recessive)" ""
"0000767637" "0" "90" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Schulz 2017:28118664}" "" "c.6320G>A p.(R2107H)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94001068C>T" "" "pathogenic (recessive)" ""
"0000767638" "0" "70" "1" "94466618" "94466618" "subst" "0" "01695" "ABCA4_001415" "g.94466618A>G" "" "{PMID:Schulz 2017:28118664}" "" "c.6326T>C p.(L2109P)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94001062A>G" "" "likely pathogenic (recessive)" ""
"0000767639" "0" "90" "1" "94466556" "94466556" "subst" "4.06164E-6" "01695" "ABCA4_000831" "g.94466556G>C" "" "{PMID:Schulz 2017:28118664}" "" "c.6386+2C>G p.(V2114Hfs*5)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94001000G>C" "" "pathogenic (recessive)" ""
"0000767640" "0" "70" "1" "94466422" "94466422" "subst" "2.43651E-5" "01695" "ABCA4_000817" "g.94466422C>T" "" "{PMID:Schulz 2017:28118664}" "" "c.6449G>A p.(C2150Y)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94000866C>T" "" "likely pathogenic (recessive)" ""
"0000767641" "0" "50" "1" "94463631" "94463631" "subst" "0" "01695" "ABCA4_000810" "g.94463631T>C" "" "{PMID:Schulz 2017:28118664}" "" "c.6515A>G p.(K2172R)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.93998075T>C" "" "VUS" ""
"0000767642" "0" "10" "1" "94463617" "94463617" "subst" "0.0109114" "01695" "ABCA4_000013" "g.94463617C>T" "" "{PMID:Schulz 2017:28118664}" "" "c.6529G>A p.(D2177N)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.93998061C>T" "" "benign" ""
"0000767643" "0" "90" "1" "94463537" "94463537" "subst" "0" "01695" "ABCA4_000803" "g.94463537G>T" "" "{PMID:Schulz 2017:28118664}" "" "c.6609C>A p.(Y2203*)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.93997981G>T" "" "pathogenic (recessive)" ""
"0000767644" "0" "70" "1" "94463499" "94463499" "subst" "1.21857E-5" "01695" "ABCA4_001568" "g.94463499G>A" "" "{PMID:Schulz 2017:28118664}" "" "c.6647C>T p.[(A2216V, A2216_Q2243del)]" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.93997943G>A" "" "likely pathogenic (recessive)" ""
"0000767645" "0" "90" "1" "94463488" "94463488" "subst" "5.2803E-5" "01695" "ABCA4_000802" "g.94463488G>A" "" "{PMID:Schulz 2017:28118664}" "" "c.6658C>T p.(Q2220*)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.93997932G>A" "" "pathogenic (recessive)" ""
"0000767646" "0" "70" "1" "94463433" "94463433" "subst" "0" "01695" "ABCA4_001563" "g.94463433T>C" "" "{PMID:Schulz 2017:28118664}" "" "c.6713A>G p.(Q2238R)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.93997877T>C" "" "likely pathogenic (recessive)" ""
"0000767647" "0" "30" "1" "94461754" "94461754" "subst" "0.0642229" "01695" "ABCA4_000951" "g.94461754A>G" "" "{PMID:Schulz 2017:28118664}" "" "c.6730-3T>C p.(?)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.93996198A>G" "" "likely benign" ""
"0000767648" "0" "70" "1" "94461749" "94461749" "subst" "0.00632561" "01695" "ABCA4_001198" "g.94461749C>T" "" "{PMID:Schulz 2017:28118664}" "" "c.6732G>A p.(V2244V)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.93996193C>T" "" "likely pathogenic (recessive)" ""
"0000767649" "0" "10" "1" "94461717" "94461717" "subst" "0.0703199" "01695" "ABCA4_000003" "g.94461717C>A" "" "{PMID:Schulz 2017:28118664}" "" "c.6764G>T p.(S2255I)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.93996161C>A" "" "benign" ""
"0000767650" "0" "90" "1" "94486794" "94486794" "subst" "0" "01695" "ABCA4_000478" "g.94486794A>G" "" "{PMID:Rizzo 2017:28121212}" "" "c.5018+2T>C (p.?)" "" "Unknown" "" "" "0" "" "" "g.94021238A>G" "" "pathogenic (recessive)" ""
"0000767651" "3" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Biswas 2017:28130426}" "" "c.5882G>A" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000767652" "3" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Biswas 2017:28130426}" "" "c.5882G>A" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000767653" "3" "70" "1" "94480241" "94480241" "subst" "7.71705E-5" "01695" "ABCA4_000446" "g.94480241G>A" "" "{PMID:Biswas 2017:28130426}" "" "c.5318C>T; p.Ala1773Val" "" "Germline" "yes" "" "0" "" "" "g.94014685G>A" "" "likely pathogenic (recessive)" ""
"0000767654" "3" "70" "1" "94480241" "94480241" "subst" "7.71705E-5" "01695" "ABCA4_000446" "g.94480241G>A" "" "{PMID:Biswas 2017:28130426}" "" "c.5318C>T; p.Ala1773Val" "" "Germline" "yes" "" "0" "" "" "g.94014685G>A" "" "likely pathogenic (recessive)" ""
"0000767655" "3" "70" "1" "94480241" "94480241" "subst" "7.71705E-5" "01695" "ABCA4_000446" "g.94480241G>A" "" "{PMID:Biswas 2017:28130426}" "" "c.5318C>T; p.Ala1773Val" "" "Germline" "yes" "" "0" "" "" "g.94014685G>A" "" "likely pathogenic (recessive)" ""
"0000767656" "3" "90" "1" "94578596" "94578596" "subst" "4.06478E-6" "01695" "ABCA4_000250" "g.94578596C>T" "" "{PMID:Todorova 2017:28147405}" "" "p.(W31*)" "" "Unknown" "" "" "0" "" "" "g.94113040C>T" "" "pathogenic (recessive)" ""
"0000767657" "1" "70" "1" "94586550" "94586550" "subst" "1.21864E-5" "01695" "ABCA4_000037" "g.94586550G>A" "" "{PMID:Bravo-Gil 2017:28157192}" "" "c.52C> T, p.R18W" "" "Unknown" "yes" "" "0" "" "" "g.94120994G>A" "" "likely pathogenic (recessive)" ""
"0000767658" "3" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Bravo-Gil 2017:28157192}" "" "c.3386G> T p.R1129L" "" "Unknown" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000767659" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Bravo-Gil 2017:28157192}" "" "c.5882G>A p.G1961E Het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000767660" "0" "50" "1" "94473287" "94473287" "subst" "0.00293818" "01695" "ABCA4_000395" "g.94473287G>A" "" "{PMID:Bravo-Gil 2017:28157192}" "" "c.5908C>T p.L1970F Het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94007731G>A" "" "VUS" ""
"0000767661" "0" "50" "1" "94467548" "94467548" "subst" "0.00295661" "01695" "ABCA4_000788" "g.94467548C>G" "" "{PMID:Bravo-Gil 2017:28157192}" "" "c.6148G>C p.V2050L Het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94001992C>G" "" "VUS" ""
"0000767662" "0" "50" "1" "94467548" "94467548" "subst" "0.00295661" "01695" "ABCA4_000788" "g.94467548C>G" "" "{PMID:Bravo-Gil 2017:28157192}" "" "c.6148G>C p.V2050L Het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94001992C>G" "" "VUS" ""
"0000767663" "0" "50" "1" "94467548" "94467548" "subst" "0.00295661" "01695" "ABCA4_000788" "g.94467548C>G" "" "{PMID:Bravo-Gil 2017:28157192}" "" "c.6148G>C p.V2050L Het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94001992C>G" "" "VUS" ""
"0000767664" "0" "90" "1" "94568577" "94568577" "del" "0" "01695" "ABCA4_000201" "g.94568577del" "" "{PMID:Klufas 2017:28248825}" "" "c.564delA" "" "Unknown" "" "" "0" "" "" "g.94103021del" "" "pathogenic (recessive)" ""
"0000767665" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Klufas 2017:28248825}" "" "c.1804C.T" "" "Unknown" "" "" "0" "" "" "g.94062710G>A" "" "pathogenic (recessive)" ""
"0000767666" "0" "90" "1" "94526258" "94526258" "subst" "4.07183E-6" "01695" "ABCA4_000762" "g.94526258G>T" "" "{PMID:Klufas 2017:28248825}" "" "c.1995C.A" "" "Unknown" "" "" "0" "" "" "g.94060702G>T" "" "pathogenic (recessive)" ""
"0000767667" "0" "90" "1" "94512565" "94512565" "del" "0" "01695" "ABCA4_000692" "g.94512565del" "" "{PMID:Klufas 2017:28248825}" "" "c.2829delG" "" "Unknown" "" "" "0" "" "" "g.94047009del" "" "pathogenic (recessive)" ""
"0000767668" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Klufas 2017:28248825}" "" "c.5882G.A" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000767669" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Klufas 2017:28248825}" "" "c.1622T.C" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000767670" "0" "50" "1" "94487404" "94487404" "subst" "0.00244055" "01695" "ABCA4_000497" "g.94487404C>T" "" "{PMID:Klufas 2017:28248825}" "" "c.4771G.A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94021848C>T" "" "VUS" ""
"0000767671" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Klufas 2017:28248825}" "" "c.2588G.C" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000767672" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Klufas 2017:28248825}" "" "c.5461-10T.C" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000767673" "1" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Klufas 2017:28248825}" "" "c.2588G.C" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000767674" "0" "90" "1" "94526212" "94526212" "subst" "1.22012E-5" "01695" "ABCA4_000075" "g.94526212G>A" "" "{PMID:Klufas 2017:28248825}" "" "c.2041C.T" "" "Unknown" "" "" "0" "" "" "g.94060656G>A" "" "pathogenic (recessive)" ""
"0000767675" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Klufas 2017:28248825}" "" "c.5882G.A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000767676" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Klufas 2017:28248825}" "" "c.5714+5G.A" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000767677" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Klufas 2017:28248825}" "" "c.1622T.C" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000767678" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Klufas 2017:28248825}" "" "c.2588G.C" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000767679" "0" "70" "1" "94528713" "94528713" "subst" "4.87381E-5" "01695" "ABCA4_000072" "g.94528713C>T" "" "{PMID:Klufas 2017:28248825}" "" "c.1715G.A" "" "Unknown" "" "" "0" "" "" "g.94063157C>T" "" "likely pathogenic (recessive)" ""
"0000767680" "0" "90" "1" "94495009" "94495009" "dup" "0" "01695" "ABCA4_000087" "g.94495009dup" "" "{PMID:Klufas 2017:28248825}" "" "c.4537dupC" "" "Unknown" "" "" "0" "" "" "g.94029453dup" "" "pathogenic (recessive)" ""
"0000767681" "0" "70" "1" "94578618" "94578618" "subst" "0.000166918" "01695" "ABCA4_000252" "g.94578618C>T" "" "{PMID:Klufas 2017:28248825}" "" "c.71G.A" "" "Unknown" "" "" "0" "" "" "g.94113062C>T" "" "likely pathogenic (recessive)" ""
"0000767682" "0" "90" "1" "94473278" "94473278" "del" "3.25908E-5" "01695" "ABCA4_000392" "g.94473278del" "" "{PMID:Klufas 2017:28248825}" "" "c.5917delG" "" "Unknown" "" "" "0" "" "" "g.94007722del" "" "pathogenic (recessive)" ""
"0000767683" "3" "70" "1" "94480241" "94480241" "subst" "7.71705E-5" "01695" "ABCA4_000446" "g.94480241G>A" "" "{PMID:Klufas 2017:28248825}" "" "c.5318C.T" "" "Unknown" "" "" "0" "" "" "g.94014685G>A" "" "likely pathogenic (recessive)" ""
"0000767684" "0" "90" "1" "94526212" "94526212" "subst" "1.22012E-5" "01695" "ABCA4_000075" "g.94526212G>A" "" "{PMID:Klufas 2017:28248825}" "" "c.2041C.T" "" "Unknown" "" "" "0" "" "" "g.94060656G>A" "" "pathogenic (recessive)" ""
"0000767685" "0" "50" "1" "94495021" "94495021" "subst" "0.000161713" "01695" "ABCA4_000538" "g.94495021C>T" "" "{PMID:Klufas 2017:28248825}" "" "c.4519G.A" "" "Unknown" "" "" "0" "" "" "g.94029465C>T" "" "VUS" ""
"0000767686" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Klufas 2017:28248825}" "" "c.768G.T" "" "Unknown" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000767687" "0" "70" "1" "94578618" "94578618" "subst" "0.000166918" "01695" "ABCA4_000252" "g.94578618C>T" "" "{PMID:Klufas 2017:28248825}" "" "c.71G.A" "" "Unknown" "" "" "0" "" "" "g.94113062C>T" "" "likely pathogenic (recessive)" ""
"0000767688" "3" "90" "1" "94528666" "94528666" "subst" "0" "01695" "ABCA4_000289" "g.94528666A>C" "" "{PMID:Klufas 2017:28248825}" "" "IVS12+2T.G" "" "Unknown" "" "" "0" "" "" "g.94063110A>C" "" "pathogenic (recessive)" ""
"0000767689" "0" "90" "1" "94528810" "94528813" "del" "0" "01695" "ABCA4_002102" "g.94528810_94528813del" "" "{PMID:Klufas 2017:28248825}" "" "c.1619_1622delCTCT" "" "Unknown" "" "" "0" "" "" "g.94063254_94063257del" "" "pathogenic (recessive)" ""
"0000767690" "0" "70" "1" "94490567" "94490567" "subst" "5.68528E-5" "01695" "ABCA4_000026" "g.94490567G>A" "" "{PMID:Klufas 2017:28248825}" "" "c.4577C.T" "" "Unknown" "" "" "0" "" "" "g.94025011G>A" "" "likely pathogenic (recessive)" ""
"0000767691" "0" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "" "{PMID:Klufas 2017:28248825}" "" "c.4469G.A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94029515C>T" "" "likely pathogenic (recessive)" ""
"0000767692" "0" "70" "1" "94490550" "94490550" "subst" "0.000105588" "01695" "ABCA4_000523" "g.94490550C>T" "" "{PMID:Klufas 2017:28248825}" "" "c.4594G.A" "" "Unknown" "" "" "0" "" "" "g.94024994C>T" "" "likely pathogenic (recessive)" ""
"0000767693" "0" "90" "1" "94510253" "94510253" "subst" "0.000247694" "01695" "ABCA4_000108" "g.94510253A>G" "" "{PMID:Lee 2017:28327576}" "" "p.(V989A)" "" "Unknown" "" "" "0" "" "" "g.94044697A>G" "" "pathogenic (recessive)" ""
"0000767694" "0" "50" "1" "94543268" "94543268" "subst" "0.000778106" "01695" "ABCA4_000306" "g.94543268C>T" "" "{PMID:Lee 2017:28327576}" "" "p.(R511H)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94077712C>T" "" "VUS" ""
"0000767695" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Lee 2017:28327576}" "" "p.(G1961E)" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000767696" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Lee 2017:28327576}" "" "p.(G1961E)" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000767697" "0" "70" "1" "94490567" "94490567" "subst" "5.68528E-5" "01695" "ABCA4_000026" "g.94490567G>A" "" "{PMID:Lee 2017:28327576}" "" "p.(T1526M)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94025011G>A" "" "likely pathogenic (recessive)" ""
"0000767698" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Lee 2017:28327576}" "" "p.(G1961E)" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000767699" "3" "70" "1" "94578598" "94578598" "subst" "0" "01695" "ABCA4_000251" "g.94578598A>G" "" "{PMID:Lee 2017:28327576}" "" "p.(W31*)" "" "Unknown" "" "" "0" "" "" "g.94113042A>G" "" "likely pathogenic (recessive)" ""
"0000767700" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Lee 2017:28327576}" "" "p.(G1961E)" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000767701" "0" "90" "1" "94546248" "94546248" "del" "2.03666E-5" "01695" "ABCA4_000352" "g.94546248del" "" "{PMID:Lee 2017:28327576}" "" "c.885del" "" "Unknown" "" "" "0" "" "" "g.94080692del" "" "pathogenic (recessive)" ""
"0000767702" "1" "90" "1" "94586536" "94586536" "subst" "0" "01695" "ABCA4_000255" "g.94586536C>T" "" "{PMID:Lee 2017:28327576}" "" "c.[66G4A;859-9T4C]" "" "Unknown" "" "" "0" "" "" "g.94120980C>T" "" "pathogenic (recessive)" ""
"0000767703" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Lee 2017:28327576}" "" "p.(G1961E)" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000767704" "3" "70" "1" "94467505" "94467505" "subst" "4.06128E-6" "01695" "ABCA4_000868" "g.94467505G>A" "" "{PMID:Lee 2017:28327576}" "" "p.(A2064V)" "" "Unknown" "" "" "0" "" "" "g.94001949G>A" "" "likely pathogenic (recessive)" ""
"0000767705" "0" "70" "1" "94546283" "94546283" "subst" "8.18311E-5" "01695" "ABCA4_000356" "g.94546283A>G" "" "{PMID:Lee 2017:28327576}" "" "c.859-9T4C" "" "Unknown" "" "" "0" "" "" "g.94080727A>G" "" "likely pathogenic (recessive)" ""
"0000767706" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Lee 2017:28327576}" "" "p.(G1961E)" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000767707" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Lee 2017:28327576}" "" "p.(G1961E)" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000767708" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Lee 2017:28327576}" "" "p.(G1961E)" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000767709" "3" "70" "1" "94546283" "94546283" "subst" "8.18311E-5" "01695" "ABCA4_000356" "g.94546283A>G" "" "{PMID:Lee 2017:28327576}" "" "c.859-9T4C" "" "Unknown" "" "" "0" "" "" "g.94080727A>G" "" "likely pathogenic (recessive)" ""
"0000767710" "3" "70" "1" "94546283" "94546283" "subst" "8.18311E-5" "01695" "ABCA4_000356" "g.94546283A>G" "" "{PMID:Lee 2017:28327576}" "" "c.859-9T4C" "" "Unknown" "" "" "0" "" "" "g.94080727A>G" "" "likely pathogenic (recessive)" ""
"0000767711" "3" "90" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Lee 2017:28327576}" "" "p.(N965S)" "" "Unknown" "" "" "0" "" "" "g.94046943T>C" "" "pathogenic (recessive)" ""
"0000767712" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Lee 2017:28327576}" "" "p.(G1961E)" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000767713" "0" "50" "1" "94526230" "94526230" "subst" "7.32136E-5" "01695" "ABCA4_000760" "g.94526230C>T" "" "{PMID:Lee 2017:28327576}" "" "p.(V675I)" "" "Unknown" "" "" "0" "" "" "g.94060674C>T" "" "VUS" ""
"0000767714" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Lee 2017:28327576}" "" "p.(G1961E)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000767715" "0" "90" "1" "94564545" "94564551" "del" "0" "01695" "ABCA4_000866" "g.94564545_94564551del" "" "{PMID:Lee 2017:28327576}{PMID:Zernant 2017:28446513}" "" "c.571-2_575del" "" "Unknown" "" "" "0" "" "" "g.94098989_94098995del" "" "pathogenic (recessive)" ""
"0000767716" "0" "70" "1" "94463452" "94463452" "subst" "9.34412E-5" "01695" "ABCA4_000870" "g.94463452C>T" "" "{PMID:Lee 2017:28327576}" "" "p.(E2232K)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.93997896C>T" "" "likely pathogenic (recessive)" ""
"0000767717" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Lee 2017:28327576}" "" "p.(G1961E)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000767718" "0" "70" "1" "94481364" "94481364" "subst" "0" "01695" "ABCA4_000864" "g.94481364C>T" "" "{PMID:Lee 2017:28327576}" "" "p.(G1748E)" "" "Unknown" "" "" "0" "" "" "g.94015808C>T" "" "likely pathogenic (recessive)" ""
"0000767719" "3" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Lee 2017:28327576}" "" "p.(G1961E)" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000767720" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Lee 2017:28327576}" "" "p.(G1961E)" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000767721" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Lee 2017:28327576}" "" "p.(G1961E)" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000767722" "3" "70" "1" "94543269" "94543269" "subst" "0.000179087" "01695" "ABCA4_000307" "g.94543269G>A" "" "{PMID:Lee 2017:28327576}" "" "p.(R511C)" "" "Unknown" "" "" "0" "" "" "g.94077713G>A" "" "likely pathogenic (recessive)" ""
"0000767723" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Lee 2017:28327576}" "" "p.(G1961E)" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000767724" "3" "70" "1" "94577117" "94577117" "subst" "1.62472E-5" "01695" "ABCA4_000237" "g.94577117G>A" "" "{PMID:Lee 2017:28327576}" "" "p.[(A60V;T1277M)]" "" "Unknown" "" "" "0" "" "" "g.94111561G>A" "" "likely pathogenic (recessive)" ""
"0000767725" "3" "70" "1" "94578598" "94578598" "subst" "0" "01695" "ABCA4_000251" "g.94578598A>G" "" "{PMID:Lee 2017:28327576}" "" "p.(W31R)" "" "Unknown" "" "" "0" "" "" "g.94113042A>G" "" "likely pathogenic (recessive)" ""
"0000767726" "1" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Lee 2017:28327576}" "" "p.[(G1961E;R2149*)]" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000767727" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Lee 2017:28327576}" "" "p.[(G1961E;R2149*)]" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000767728" "0" "90" "1" "94526258" "94526258" "subst" "4.07183E-6" "01695" "ABCA4_000762" "g.94526258G>T" "" "{PMID:Lee 2017:28327576}" "" "p.(Y665*)" "" "Unknown" "" "" "0" "" "" "g.94060702G>T" "" "pathogenic (recessive)" ""
"0000767729" "0" "90" "1" "94526258" "94526258" "subst" "4.07183E-6" "01695" "ABCA4_000762" "g.94526258G>T" "" "{PMID:Lee 2017:28327576}" "" "p.(Y665*)" "" "Unknown" "" "" "0" "" "" "g.94060702G>T" "" "pathogenic (recessive)" ""
"0000767730" "0" "70" "1" "94544249" "94544249" "subst" "8.12196E-6" "01695" "ABCA4_000323" "g.94544249A>G" "" "{PMID:Taylor 2017:28341476}" "" "ABCA4 c.1253T>C, p.(Phe418Ser)" "" "Unknown" "" "" "0" "" "" "g.94078693A>G" "" "likely pathogenic (recessive)" ""
"0000767731" "0" "70" "1" "94490556" "94490556" "subst" "0" "01695" "ABCA4_001401" "g.94490556T>A" "" "{PMID:Taylor 2017:28341476}" "" "ABCA4 c.4588A>T, p.(Ile1530Phe)" "" "Unknown" "" "" "0" "" "" "g.94025000T>A" "" "likely pathogenic (recessive)" ""
"0000767732" "0" "70" "1" "94520816" "94520816" "subst" "0" "01695" "ABCA4_001407" "g.94520816T>G" "" "{PMID:Taylor 2017:28341476}" "" "ABCA4 c.2438A>C, p.(Glu813Ala)" "" "Unknown" "" "" "0" "" "" "g.94055260T>G" "" "likely pathogenic (recessive)" ""
"0000767733" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Taylor 2017:28341476}" "" "ABCA4 c.5461-10T>C hom" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000767734" "0" "90" "1" "94473278" "94473278" "del" "3.25908E-5" "01695" "ABCA4_000392" "g.94473278del" "" "{PMID:Taylor 2017:28341476}" "" "ABCA4 c.5917delG, p.(Val1973*)" "" "Unknown" "" "" "0" "" "" "g.94007722del" "" "pathogenic (recessive)" ""
"0000767735" "0" "90" "1" "94463488" "94463488" "subst" "5.2803E-5" "01695" "ABCA4_000802" "g.94463488G>A" "" "{PMID:Taylor 2017:28341476}" "" "ABCA4 c.6658C>T, p.(Gln2220*)" "" "Unknown" "" "" "0" "" "" "g.93997932G>A" "" "pathogenic (recessive)" ""
"0000767736" "0" "90" "1" "94526194" "94526194" "dup" "0" "01695" "ABCA4_001308" "g.94526194dup" "" "{PMID:Taylor 2017:28341476}" "" "ABCA4 c.2063dupA, p.(Asn688fs)" "" "Unknown" "" "" "0" "" "" "g.94060638dup" "" "pathogenic (recessive)" ""
"0000767737" "0" "90" "1" "94473278" "94473278" "del" "3.25908E-5" "01695" "ABCA4_000392" "g.94473278del" "" "{PMID:Taylor 2017:28341476}" "" "ABCA4 c.5917delG, p.(Val1973*)" "" "Unknown" "" "" "0" "" "" "g.94007722del" "" "pathogenic (recessive)" ""
"0000767738" "0" "50" "1" "94496039" "94496039" "subst" "0.00157963" "01695" "ABCA4_000552" "g.94496039C>T" "" "{PMID:Taylor 2017:28341476}" "" "ABCA4 c.4297G>A, p.(Val1433Ile)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94030483C>T" "" "VUS" ""
"0000767739" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Taylor 2017:28341476}" "" "ABCA4 c.5714+5G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000767740" "0" "50" "1" "94467548" "94467548" "subst" "0.00295661" "01695" "ABCA4_000788" "g.94467548C>G" "" "{PMID:Taylor 2017:28341476}" "" "ABCA4 c.6148G>C, p.(Val2050Leu)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94001992C>G" "" "VUS" ""
"0000767741" "0" "50" "1" "94514466" "94514466" "subst" "0.00192081" "01695" "ABCA4_000008" "g.94514466T>C" "" "{PMID:Taylor 2017:28341476}" "" "ABCA4 c.2701A>G, p.(Thr901Ala)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94048910T>C" "" "VUS" ""
"0000767742" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Taylor 2017:28341476}" "" "ABCA4 c.4139C>T, p.(Pro1380Leu)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000767743" "0" "90" "1" "94508455" "94508455" "subst" "8.12434E-6" "01695" "ABCA4_000649" "g.94508455C>A" "" "{PMID:Lambertus 2017:28355279}" "" "c.3191-1G>T p.(?)" "" "Unknown" "" "" "0" "" "" "g.94042899C>A" "" "pathogenic (recessive)" ""
"0000767744" "3" "90" "1" "94509001" "94509001" "subst" "0" "01695" "ABCA4_001405" "g.94509001A>C" "" "{PMID:Lambertus 2017:28355279}" "" "c.3081T>G p.(Tyr1027*)" "" "Unknown" "" "" "0" "" "" "g.94043445A>C" "" "pathogenic (recessive)" ""
"0000767745" "0" "90" "1" "94466658" "94466658" "subst" "8.14817E-6" "01695" "ABCA4_000132" "g.94466658C>T" "" "{PMID:Lambertus 2017:28355279}" "" "c.6286G>A p.(Glu2096Lys)" "" "Unknown" "" "" "0" "" "" "g.94001102C>T" "" "pathogenic (recessive)" ""
"0000767746" "0" "70" "1" "94490567" "94490567" "subst" "5.68528E-5" "01695" "ABCA4_000026" "g.94490567G>A" "" "{PMID:Lambertus 2017:28355279}" "" "c.4577C>T p.(Thr1526Met)" "" "Unknown" "" "" "0" "" "" "g.94025011G>A" "" "likely pathogenic (recessive)" ""
"0000767747" "0" "90" "1" "94578596" "94578596" "subst" "4.06478E-6" "01695" "ABCA4_000250" "g.94578596C>T" "" "{PMID:Lambertus 2017:28355279}" "" "c.93G>A p.(Trp31*)" "" "Unknown" "" "" "0" "" "" "g.94113040C>T" "" "pathogenic (recessive)" ""
"0000767748" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Lambertus 2017:28355279}" "" "c.4139C>T p.(Pro1380Leu)" "" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000767749" "3" "70" "1" "94463399" "94463413" "del" "0" "01695" "ABCA4_000851" "g.94463399_94463413del" "" "{PMID:Lambertus 2017:28355279}" "" "c.6729+4_6729+18del p.(?)" "" "Unknown" "" "" "0" "" "" "g.93997843_93997857del" "" "likely pathogenic (recessive)" ""
"0000767750" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Lambertus 2017:28355279}" "" "c.5714+5G>A p.(?)" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000767751" "3" "70" "1" "94463399" "94463413" "del" "0" "01695" "ABCA4_000851" "g.94463399_94463413del" "" "{PMID:Lambertus 2017:28355279}" "" "c.6729+4_6729+18del p.(?)" "" "Unknown" "" "" "0" "" "" "g.93997843_93997857del" "" "likely pathogenic (recessive)" ""
"0000767752" "3" "70" "1" "94512481" "94512481" "subst" "4.06524E-6" "01695" "ABCA4_000679" "g.94512481G>T" "" "{PMID:Lambertus 2017:28355279}" "" "c.2912C>A p.(Thr971Asn)" "" "Unknown" "" "" "0" "" "" "g.94046925G>T" "" "likely pathogenic (recessive)" ""
"0000767753" "3" "70" "1" "94495078" "94495078" "subst" "8.37044E-6" "01695" "ABCA4_000042" "g.94495078A>G" "" "{PMID:Lambertus 2017:28355279}" "" "c.4462T>C p.(Cys1488Arg)" "" "Unknown" "" "" "0" "" "" "g.94029522A>G" "" "likely pathogenic (recessive)" ""
"0000767754" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Lambertus 2017:28355279}" "" "c.6079C>T p.(Leu2027Phe)" "" "Unknown" "" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic (recessive)" ""
"0000767755" "3" "90" "1" "94466391" "94466391" "subst" "0" "01695" "ABCA4_000814" "g.94466391C>T" "" "{PMID:Lambertus 2017:28355279}" "" "c.6479+1G>A p.(?)" "" "Unknown" "" "" "0" "" "" "g.94000835C>T" "" "pathogenic (recessive)" ""
"0000767756" "3" "90" "1" "94466391" "94466391" "subst" "0" "01695" "ABCA4_000814" "g.94466391C>T" "" "{PMID:Lambertus 2017:28355279}" "" "c.6479+1G>A p.(?)" "" "Unknown" "" "" "0" "" "" "g.94000835C>T" "" "pathogenic (recessive)" ""
"0000767757" "0" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "" "{PMID:Lambertus 2017:28355279}" "" "c.4469G>A p.(Cys1490Tyr)" "" "Unknown" "" "" "0" "" "" "g.94029515C>T" "" "likely pathogenic (recessive)" ""
"0000767758" "3" "70" "1" "94496548" "94496548" "subst" "2.43787E-5" "01695" "ABCA4_000088" "g.94496548G>A" "" "{PMID:Lambertus 2017:28355279}" "" "c.4253+4C>T p.(?)" "" "Unknown" "" "" "0" "" "" "g.94030992G>A" "" "likely pathogenic (recessive)" ""
"0000767759" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Lambertus 2017:28355279}" "" "c.5461-10T>C p.[Thr1821Valfs*13,Thr1821Aspfs*6]" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000767760" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Lambertus 2017:28355279}" "" "c.768G>T p.(?)" "" "Unknown" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000767761" "3" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Lambertus 2017:28355279}" "" "c.5461-10T>C p.[Thr1821Valfs*13,Thr1821Aspfs*6]" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000767762" "3" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Lambertus 2017:28355279}" "" "c.768G>T p.(?)" "" "Unknown" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000767763" "0" "90" "1" "94508316" "94510301" "del" "0" "01695" "ABCA4_000041" "g.(94506959_94508316)_(94510301_94512474)del" "" "{PMID:Lambertus 2017:28355279}" "" "c.3033-?_3364+?del p.(?)" "" "Unknown" "" "" "0" "" "" "g.(94041403_94042760)_(94044745_94046918)del" "" "pathogenic (recessive)" ""
"0000767764" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Lambertus 2017:28355279}" "" "c.4139C>T p.(Pro1380Leu)" "" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000767765" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Lambertus 2017:28355279}" "" "c.5461-10T>C p.[Thr1821Valfs*13,Thr1821Aspfs*6]" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000767766" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Lambertus 2017:28355279}{PMID:Bax 2019:30903310}" "" "c.5461-10T>C p.[Thr1821Valfs*13,Thr1821Aspfs*6]" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000767767" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Lambertus 2017:28355279}" "" "c.768G>T p.(?)" "" "Unknown" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000767768" "0" "90" "1" "94508316" "94510301" "del" "0" "01695" "ABCA4_000041" "g.(94506959_94508316)_(94510301_94512474)del" "" "{PMID:Lambertus 2017:28355279}" "" "c.3033-?_3364+?del p.(?)" "" "Unknown" "" "" "0" "" "" "g.(94041403_94042760)_(94044745_94046918)del" "" "pathogenic (recessive)" ""
"0000767769" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Lambertus 2017:28355279}" "" "c.5461-10T>C p.[Thr1821Valfs*13,Thr1821Aspfs*6]" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000767770" "3" "70" "1" "94577010" "94577010" "subst" "1.22004E-5" "01695" "ABCA4_000224" "g.94577010T>C" "" "{PMID:Lambertus 2017:28355279}" "" "c.286A>G p.(Asn96Asp)" "" "Unknown" "" "" "0" "" "" "g.94111454T>C" "" "likely pathogenic (recessive)" ""
"0000767771" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Lambertus 2017:28355279}" "" "c.5461-10T>C p.[Thr1821Valfs*13,Thr1821Aspfs*6]" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000767772" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Lambertus 2017:28355279}" "" "c.1622T>C;3113C>T p.[Leu541Pro;Ala1038Val]" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000767773" "0" "50" "1" "94512602" "94512602" "subst" "0.000369717" "01695" "ABCA4_000052" "g.94512602C>T" "" "{PMID:Verdina 2017:28365912}" "" "c.2791G>A (p.Val931Met)" "" "Unknown" "" "" "0" "" "" "g.94047046C>T" "" "VUS" ""
"0000767774" "0" "50" "1" "94512602" "94512602" "subst" "0.000369717" "01695" "ABCA4_000052" "g.94512602C>T" "" "{PMID:Verdina 2017:28365912}" "" "c.2791G>A (p.Val931Met)" "" "Unknown" "" "" "0" "" "" "g.94047046C>T" "" "VUS" ""
"0000767775" "0" "70" "1" "94480142" "94480142" "subst" "0" "01695" "ABCA4_001693" "g.94480142C>T" "" "{PMID:Verdina 2017:28365912}" "" "c.5417G>A (p.Ser1806Asn)" "" "Unknown" "" "" "0" "" "" "g.94014586C>T" "" "likely pathogenic (recessive)" ""
"0000767776" "0" "70" "1" "94480142" "94480142" "subst" "0" "01695" "ABCA4_001693" "g.94480142C>T" "" "{PMID:Verdina 2017:28365912}" "" "c.5417G>A (p.Ser1806Asn)" "" "Unknown" "" "" "0" "" "" "g.94014586C>T" "" "likely pathogenic (recessive)" ""
"0000767777" "0" "90" "1" "94488941" "94488941" "subst" "4.09836E-6" "01695" "ABCA4_000127" "g.94488941C>T" "" "{PMID:Verdina 2017:28365912}" "" "c.4667+1G>A (p.?)" "" "Unknown" "" "" "0" "" "" "g.94023385C>T" "" "pathogenic (recessive)" ""
"0000767778" "3" "70" "1" "94487251" "94487251" "subst" "2.85679E-5" "01695" "ABCA4_000490" "g.94487251G>T" "" "{PMID:Verdina 2017:28365912}" "" "c.4793C>A (p.Ala1598Asp)" "" "Unknown" "" "" "0" "" "" "g.94021695G>T" "" "likely pathogenic (recessive)" ""
"0000767779" "0" "70" "1" "94520793" "94520793" "subst" "8.13292E-6" "01695" "ABCA4_000723" "g.94520793A>T" "" "{PMID:Verdina 2017:28365912}" "" "c.2461T>A (p.Trp821Arg)" "" "Unknown" "" "" "0" "" "" "g.94055237A>T" "" "likely pathogenic (recessive)" ""
"0000767780" "0" "90" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Verdina 2017:28365912}" "" "c.634C>T (p.Arg212Cys)" "" "Unknown" "" "" "0" "" "" "g.94098928G>A" "" "pathogenic (recessive)" ""
"0000767781" "0" "50" "1" "94568627" "94568627" "subst" "0.000422314" "01695" "ABCA4_000207" "g.94568627C>T" "" "{PMID:Verdina 2017:28365912}" "" "c.514G>A (p.Gly172Ser)" "" "Unknown" "" "" "0" "" "" "g.94103071C>T" "" "VUS" ""
"0000767782" "0" "90" "1" "94546151" "94546151" "subst" "4.06855E-6" "01695" "ABCA4_000347" "g.94546151C>A" "" "{PMID:Verdina 2017:28365912}" "" "c.982G>T (p.Glu328*)" "" "Unknown" "" "" "0" "" "" "g.94080595C>A" "" "pathogenic (recessive)" ""
"0000767783" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Verdina 2017:28365912}" "" "c.5882G>A (p.Gly1961Glu)" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000767784" "0" "70" "1" "94508412" "94508412" "subst" "0" "01695" "ABCA4_000644" "g.94508412C>T" "" "{PMID:Verdina 2017:28365912}" "" "c.3233G>A (p.Gly1078Glu)" "" "Unknown" "" "" "0" "" "" "g.94042856C>T" "" "likely pathogenic (recessive)" ""
"0000767785" "0" "90" "1" "94522194" "94522194" "subst" "0" "01695" "ABCA4_000733" "g.94522194C>T" "" "{PMID:Verdina 2017:28365912}" "" "c.2345G>A (p.Trp782*)" "" "Unknown" "" "" "0" "" "" "g.94056638C>T" "" "pathogenic (recessive)" ""
"0000767786" "0" "70" "1" "94577093" "94577093" "subst" "8.12394E-6" "01695" "ABCA4_000147" "g.94577093G>A" "" "{PMID:Verdina 2017:28365912}" "" "c.203C>T (p.Pro68Leu)" "" "Unknown" "" "" "0" "" "" "g.94111537G>A" "" "likely pathogenic (recessive)" ""
"0000767787" "3" "50" "1" "94496039" "94496039" "subst" "0.00157963" "01695" "ABCA4_000552" "g.94496039C>T" "" "{PMID:Verdina 2017:28365912}" "" "c.4297G>A (p.Val1433Ile)" "" "Unknown" "" "" "0" "" "" "g.94030483C>T" "" "VUS" ""
"0000767788" "0" "90" "1" "94505675" "94505675" "subst" "0" "01695" "ABCA4_000610" "g.94505675G>T" "" "{PMID:Verdina 2017:28365912}" "" "c.3531C>A (p.Cys1177*)" "" "Unknown" "" "" "0" "" "" "g.94040119G>T" "" "pathogenic (recessive)" ""
"0000767789" "0" "90" "1" "94577046" "94577049" "dup" "0" "01695" "ABCA4_000227" "g.94577046_94577049dup" "" "{PMID:Verdina 2017:28365912}" "" "c.247_250dup (p.Ser84Thrfs*16)" "" "Unknown" "" "" "0" "" "" "g.94111490_94111493dup" "" "pathogenic (recessive)" ""
"0000767790" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Verdina 2017:28365912}" "" "c.5882G>A (p.Gly1961Glu)" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000767791" "0" "90" "1" "94495103" "94495103" "subst" "0" "01695" "ABCA4_001813" "g.94495103C>T" "" "{PMID:Verdina 2017:28365912}" "" "c.4437G>A (p.Trp1479*)" "" "Unknown" "" "" "0" "" "" "g.94029547C>T" "" "pathogenic (recessive)" ""
"0000767792" "0" "90" "1" "94495103" "94495103" "subst" "0" "01695" "ABCA4_001813" "g.94495103C>T" "" "{PMID:Verdina 2017:28365912}" "" "c.4437G>A (p.Trp1479*)" "" "Unknown" "" "" "0" "" "" "g.94029547C>T" "" "pathogenic (recessive)" ""
"0000767793" "0" "70" "1" "94520793" "94520793" "subst" "8.13292E-6" "01695" "ABCA4_000723" "g.94520793A>T" "" "{PMID:Verdina 2017:28365912}" "" "c.2461T>A (p.Trp821Arg)" "" "Unknown" "" "" "0" "" "" "g.94055237A>T" "" "likely pathogenic (recessive)" ""
"0000767794" "0" "90" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Verdina 2017:28365912}" "" "c.634C>T (p.Arg212Cys)" "" "Unknown" "" "" "0" "" "" "g.94098928G>A" "" "pathogenic (recessive)" ""
"0000767795" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Verdina 2017:28365912}" "" "c.768G>T p.=(p.Val256Val)" "" "Unknown" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000767796" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Verdina 2017:28365912}" "" "c.3322C>T (p.Arg1108Cys)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000767797" "0" "90" "1" "94497495" "94497495" "del" "0" "01695" "ABCA4_000584" "g.94497495del" "" "{PMID:Verdina 2017:28365912}" "" "c.3970del (p.Ala1324Argfs*65)" "" "Unknown" "" "" "0" "" "" "g.94031939del" "" "pathogenic (recessive)" ""
"0000767798" "0" "70" "1" "94495157" "94495157" "subst" "4.06752E-6" "01695" "ABCA4_001815" "g.94495157C>G" "" "{PMID:Verdina 2017:28365912}" "" "c.4383G>C (p.Trp1461*)" "" "Unknown" "" "" "0" "" "" "g.94029601C>G" "" "likely pathogenic (recessive)" ""
"0000767799" "0" "70" "1" "94520793" "94520793" "subst" "8.13292E-6" "01695" "ABCA4_000723" "g.94520793A>T" "" "{PMID:Verdina 2017:28365912}" "" "c.2461T>A (Trp821Arg)" "" "Unknown" "" "" "0" "" "" "g.94055237A>T" "" "likely pathogenic (recessive)" ""
"0000767800" "0" "90" "1" "94510286" "94510286" "subst" "0" "01695" "ABCA4_000182" "g.94510286C>T" "" "{PMID:Verdina 2017:28365912}" "" "c.3933G>A (p.Gly978Asp)" "" "Unknown" "" "" "0" "" "" "g.94044730C>T" "" "pathogenic (recessive)" ""
"0000767801" "0" "70" "1" "94520735" "94520735" "subst" "0" "01695" "ABCA4_000718" "g.94520735A>C" "" "{PMID:Verdina 2017:28365912}" "" "c.2519T>G (p.Met840Arg)" "" "Unknown" "" "" "0" "" "" "g.94055179A>C" "" "likely pathogenic (recessive)" ""
"0000767802" "0" "50" "1" "94544257" "94544257" "subst" "0" "01695" "ABCA4_000324" "g.94544257G>T" "" "{PMID:Verdina 2017:28365912}" "" "c.1245C>A (p.Asn415Lys)" "" "Unknown" "" "" "0" "" "" "g.94078701G>T" "" "VUS" ""
"0000767803" "0" "70" "1" "94574195" "94574232" "delins" "0" "01695" "ABCA4_002214" "g.94574195_94574232delinsTGTCC" "" "{PMID:Verdina 2017:28365912}" "" "c.343_381delinsGGACAA (p.Asn115_Thr127delinsGlyGln)" "" "Unknown" "" "" "0" "" "" "g.94108639_94108676delinsTGTCC" "" "likely pathogenic (recessive)" ""
"0000767804" "0" "90" "1" "94564549" "94564549" "subst" "0" "01695" "ABCA4_000199" "g.94564549T>A" "" "{PMID:Verdina 2017:28365912}" "" "c.571-2A>T (p.?)" "" "Unknown" "" "" "0" "" "" "g.94098993T>A" "" "pathogenic (recessive)" ""
"0000767805" "0" "90" "1" "94486794" "94486794" "subst" "0" "01695" "ABCA4_000478" "g.94486794A>G" "" "{PMID:Verdina 2017:28365912}" "" "c.5018+2T>C (p.?)" "" "Unknown" "" "" "0" "" "" "g.94021238A>G" "" "pathogenic (recessive)" ""
"0000767806" "0" "90" "1" "94463610" "94463610" "del" "0" "01695" "ABCA4_001571" "g.94463610del" "" "{PMID:Verdina 2017:28365912}" "" "c.6537del (p.Pro2180Leufs*3)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.93998054del" "" "pathogenic (recessive)" ""
"0000767807" "0" "90" "1" "94505675" "94505675" "subst" "0" "01695" "ABCA4_000610" "g.94505675G>T" "" "{PMID:Verdina 2017:28365912}" "" "c.3531C>A (p.Cys1177*)" "" "Unknown" "" "" "0" "" "" "g.94040119G>T" "" "pathogenic (recessive)" ""
"0000767808" "0" "90" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Verdina 2017:28365912}" "" "c.634C>T (p.Arg212Cys)" "" "Unknown" "" "" "0" "" "" "g.94098928G>A" "" "pathogenic (recessive)" ""
"0000767809" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Verdina 2017:28365912}" "" "c.5882G>A (p.Gly1961Glu)" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000767810" "0" "90" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Verdina 2017:28365912}" "" "c.6320G>A (p.Arg2107His)" "" "Unknown" "" "" "0" "" "" "g.94001068C>T" "" "pathogenic (recessive)" ""
"0000767811" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Verdina 2017:28365912}" "" "c.5882G>A (p.Gly1961Glu)" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000767812" "3" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Verdina 2017:28365912}" "" "c.4139C>T (p.Pro1380Leu)" "" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000767813" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Verdina 2017:28365912}" "" "c.4139C>T (p.Pro1380Leu)" "" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000767814" "0" "90" "1" "94574257" "94574257" "subst" "0" "01695" "ABCA4_000218" "g.94574257A>C" "" "{PMID:Verdina 2017:28365912}" "" "c.318T>G (p.Tyr106*)" "" "Unknown" "" "" "0" "" "" "g.94108701A>C" "" "pathogenic (recessive)" ""
"0000767815" "0" "70" "1" "94520702" "94520702" "subst" "0" "01695" "ABCA4_000713" "g.94520702C>T" "" "{PMID:Verdina 2017:28365912}" "" "c.2552G>A (p.Gly851Asp)" "" "Unknown" "" "" "0" "" "" "g.94055146C>T" "" "likely pathogenic (recessive)" ""
"0000767816" "3" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Verdina 2017:28365912}" "" "c.5882G>A (p.Gly1961Glu)" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000767817" "3" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Verdina 2017:28365912}" "" "c.5882G>A (p.Gly1961Glu)" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000767818" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Verdina 2017:28365912}" "" "p.[c.1622T>C (p.Leu541Pro);c.3113C>T (p.Ala1038Val)]" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000767819" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Verdina 2017:28365912}" "" "c.5882G>A (p.Gly1961Glu)" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000767820" "3" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Verdina 2017:28365912}" "" "c.5882G>A (p.Gly1961Glu)" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000767821" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Verdina 2017:28365912}" "" "c.1622T>C (p.Leu541Pro)" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000767822" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Verdina 2017:28365912}" "" "c.1622T>C (p.Leu541Pro)" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000767823" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Verdina 2017:28365912}" "" "p.[c.1622T>C (p.Leu541Pro);c.3113C>T (p.Ala1038Val)]" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000767824" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Verdina 2017:28365912}" "" "c.5882G>A (p.Gly1961Glu)" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000767825" "1" "70" "1" "94476830" "94476830" "subst" "8.12671E-6" "01695" "ABCA4_001680" "g.94476830A>T" "" "{PMID:Zernant 2017:28446513}" "" "c.5572T>A (p.Tyr1858Asn)" "" "Unknown" "yes" "" "0" "" "" "g.94011274A>T" "" "likely pathogenic (recessive)" ""
"0000767826" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Zernant 2017:28446513}" "" "c.[1622T>C;3113C>T] (p.[Leu541Pro;Ala1038Val])" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000767827" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Zernant 2017:28446513}" "" "c.5461-10T>C (p.?)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000767828" "1" "70" "1" "94520702" "94520702" "subst" "0" "01695" "ABCA4_000713" "g.94520702C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.2552G>A (p.Gly851Asp)" "" "Unknown" "yes" "" "0" "" "" "g.94055146C>T" "" "likely pathogenic (recessive)" ""
"0000767829" "0" "70" "1" "94544249" "94544249" "subst" "8.12196E-6" "01695" "ABCA4_000323" "g.94544249A>G" "" "{PMID:Zernant 2017:28446513}" "" "c.1253T>C (p.Phe418Ser)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94078693A>G" "" "likely pathogenic (recessive)" ""
"0000767830" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Zernant 2017:28446513}" "" "c.2588G>C (p.Gly863Ala)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000767831" "1" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Zernant 2017:28446513}" "" "c.2588G>C (p.Gly863Ala)" "" "Unknown" "yes" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000767832" "0" "90" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Zernant 2017:28446513}" "" "c.2894A>G (p.Asn965Ser)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94046943T>C" "" "pathogenic (recessive)" ""
"0000767833" "1" "90" "1" "94495009" "94495009" "del" "0" "01695" "ABCA4_000534" "g.94495009del" "" "{PMID:Zernant 2017:28446513}" "" "c.4537del (p.Gln1513fs)" "" "Unknown" "yes" "" "0" "" "" "g.94029453del" "" "pathogenic (recessive)" ""
"0000767834" "1" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Zernant 2017:28446513}" "" "c.2588G>C (p.Gly863Ala)" "" "Unknown" "yes" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000767835" "1" "70" "1" "94544249" "94544249" "subst" "8.12196E-6" "01695" "ABCA4_000323" "g.94544249A>G" "" "{PMID:Zernant 2017:28446513}" "" "c.1253T>C (p.Phe418Ser)" "" "Unknown" "yes" "" "0" "" "" "g.94078693A>G" "" "likely pathogenic (recessive)" ""
"0000767836" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Zernant 2017:28446513}" "" "c.2588G>C (p.Gly863Ala)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000767837" "1" "90" "1" "94520690" "94520690" "subst" "2.03102E-5" "01695" "ABCA4_000149" "g.94520690C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.2564G>A (p.Trp855*)" "" "Unknown" "yes" "" "0" "" "" "g.94055134C>T" "" "pathogenic (recessive)" ""
"0000767838" "1" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Zernant 2017:28446513}" "" "c.2588G>C (p.Gly863Ala)" "" "Unknown" "yes" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000767839" "1" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.4469G>A (p.Cys1490Tyr)" "" "Unknown" "yes" "" "0" "" "" "g.94029515C>T" "" "likely pathogenic (recessive)" ""
"0000767840" "0" "90" "1" "94526212" "94526212" "subst" "1.22012E-5" "01695" "ABCA4_000075" "g.94526212G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.[2041C>T;2588G>C] (p.[Arg681*;Gly863Ala])" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94060656G>A" "" "pathogenic (recessive)" ""
"0000767841" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Zernant 2017:28446513}" "" "c.2588G>C (p.Gly863Ala)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000767842" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Zernant 2017:28446513}" "" "c.5461-10T>C (p.?)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000767843" "0" "90" "1" "94526296" "94526296" "subst" "1.64555E-5" "01695" "ABCA4_000768" "g.94526296G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.1957C>T (p.Arg653Cys)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94060740G>A" "" "pathogenic (recessive)" ""
"0000767844" "0" "90" "1" "94510253" "94510253" "subst" "0.000247694" "01695" "ABCA4_000108" "g.94510253A>G" "" "{PMID:Zernant 2017:28446513}" "" "c.2966T>C (p.Val989Ala)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94044697A>G" "" "pathogenic (recessive)" ""
"0000767845" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Zernant 2017:28446513}" "" "c.2588G>C (p.Gly863Ala)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000767846" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.3322C>T (p.Arg1108Cys)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000767847" "0" "90" "1" "94510302" "94510302" "subst" "0" "01695" "ABCA4_000676" "g.94510302T>C" "" "{PMID:Zernant 2017:28446513}" "" "c.2919-2A>G (p.?)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94044746T>C" "" "pathogenic (recessive)" ""
"0000767848" "1" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Zernant 2017:28446513}" "" "c.2588G>C (p.Gly863Ala)" "" "Unknown" "yes" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000767849" "1" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Zernant 2017:28446513}" "" "c.5461-10T>C (p.?)" "" "Unknown" "yes" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000767850" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Zernant 2017:28446513}" "" "c.5461-10T>C (p.?)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000767851" "2" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Zernant 2017:28446513}" "" "c.2588G>C (p.Gly863Ala)" "" "Unknown" "yes" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000767852" "1" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Zernant 2017:28446513}" "" "c.2588G>C (p.Gly863Ala)" "" "Unknown" "yes" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000767853" "1" "50" "1" "94502756" "94502756" "subst" "0.000422575" "01695" "ABCA4_000032" "g.94502756G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.[3758C>T;5882G>A] (p.[Thr1253Met;Gly1961Glu])" "" "Unknown" "yes" "" "0" "" "" "g.94037200G>A" "" "VUS" ""
"0000767854" "1" "90" "1" "94564548" "94564548" "subst" "0" "01695" "ABCA4_000197" "g.94564548C>A" "" "{PMID:Zernant 2017:28446513}" "" "c.571-1G>T (p.?)" "" "Unknown" "yes" "" "0" "" "" "g.94098992C>A" "" "pathogenic (recessive)" ""
"0000767855" "1" "70" "1" "94577135" "94577135" "subst" "2.43718E-5" "01695" "ABCA4_000240" "g.94577135C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.161G>A (p.Cys54Tyr)" "" "Unknown" "yes" "" "0" "" "" "g.94111579C>T" "" "likely pathogenic (recessive)" ""
"0000767856" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.3113C>T (p.Ala1038Val)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000767857" "0" "90" "1" "94510248" "94510248" "subst" "0.000544123" "01695" "ABCA4_000107" "g.94510248C>G" "" "{PMID:Zernant 2017:28446513}" "" "c.2971G>C (p.Gly991Arg)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94044692C>G" "" "pathogenic (recessive)" ""
"0000767858" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Zernant 2017:28446513}" "" "c.2588G>C (p.Gly863Ala)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000767859" "1" "90" "1" "94510253" "94510253" "subst" "0.000247694" "01695" "ABCA4_000108" "g.94510253A>G" "" "{PMID:Zernant 2017:28446513}" "" "c.2966T>C (p.Val989Ala)" "" "Unknown" "yes" "" "0" "" "" "g.94044697A>G" "" "pathogenic (recessive)" ""
"0000767860" "0" "70" "1" "94506901" "94506901" "subst" "4.06138E-6" "01695" "ABCA4_000622" "g.94506901C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.3386G>A (p.Arg1129His)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94041345C>T" "" "likely pathogenic (recessive)" ""
"0000767861" "1" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Zernant 2017:28446513}" "" "c.768G>T (p.?)" "" "Unknown" "yes" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000767862" "0" "90" "1" "94520690" "94520690" "subst" "2.03102E-5" "01695" "ABCA4_000149" "g.94520690C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.2564G>A (p.Trp855*)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94055134C>T" "" "pathogenic (recessive)" ""
"0000767863" "0" "70" "1" "94546111" "94546111" "subst" "0" "01695" "ABCA4_000340" "g.94546111T>C" "" "{PMID:Zernant 2017:28446513}" "" "c.1022A>G (p.Glu341Gly)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94080555T>C" "" "likely pathogenic (recessive)" ""
"0000767864" "1" "70" "1" "94577135" "94577135" "subst" "2.43718E-5" "01695" "ABCA4_000240" "g.94577135C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.161G>A (p.Cys54Tyr)" "" "Unknown" "yes" "" "0" "" "" "g.94111579C>T" "" "likely pathogenic (recessive)" ""
"0000767865" "0" "70" "1" "94490567" "94490567" "subst" "5.68528E-5" "01695" "ABCA4_000026" "g.94490567G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.4577C>T (p.Thr1526Met)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94025011G>A" "" "likely pathogenic (recessive)" ""
"0000767866" "0" "70" "1" "94485221" "94485221" "subst" "0" "01695" "ABCA4_000471" "g.94485221G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.5113C>T (p.Arg1705Trp)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94019665G>A" "" "likely pathogenic (recessive)" ""
"0000767867" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Zernant 2017:28446513}" "" "c.[1622T>C;3113C>T] (p.[Leu541Pro;Ala1038Val])" "" "Unknown" "yes" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000767868" "0" "70" "1" "94577135" "94577135" "subst" "2.43718E-5" "01695" "ABCA4_000240" "g.94577135C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.161G>A (p.Cys54Tyr)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94111579C>T" "" "likely pathogenic (recessive)" ""
"0000767869" "3" "90" "1" "94486794" "94486794" "subst" "0" "01695" "ABCA4_000478" "g.94486794A>G" "" "{PMID:Zernant 2017:28446513}" "" "c.5018+2T>C (p.?)" "" "Unknown" "yes" "" "0" "" "" "g.94021238A>G" "" "pathogenic (recessive)" ""
"0000767870" "0" "70" "1" "94528702" "94528702" "subst" "1.62468E-5" "01695" "ABCA4_000293" "g.94528702C>G" "" "{PMID:Zernant 2017:28446513}" "" "c.1726G>C (p.Asp576His)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94063146C>G" "" "likely pathogenic (recessive)" ""
"0000767871" "0" "70" "1" "94506874" "94506874" "subst" "0" "01695" "ABCA4_001900" "g.94506874A>T" "" "{PMID:Zernant 2017:28446513}" "" "c.3413T>A (p.Leu1138His)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94041318A>T" "" "likely pathogenic (recessive)" ""
"0000767872" "1" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.5882G>A (p.Gly1961Glu)" "" "Unknown" "yes" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000767873" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.5882G>A (p.Gly1961Glu)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000767874" "1" "70" "1" "94577135" "94577135" "subst" "2.43718E-5" "01695" "ABCA4_000240" "g.94577135C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.161G>A (p.Cys54Tyr)" "" "Unknown" "yes" "" "0" "" "" "g.94111579C>T" "" "likely pathogenic (recessive)" ""
"0000767875" "1" "70" "1" "94577135" "94577135" "subst" "2.43718E-5" "01695" "ABCA4_000240" "g.94577135C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.161G>A (p.Cys54Tyr)" "" "Unknown" "yes" "" "0" "" "" "g.94111579C>T" "" "likely pathogenic (recessive)" ""
"0000767876" "0" "90" "1" "94564442" "94564454" "del" "0" "01695" "ABCA4_000377" "g.94564442_94564454del" "" "{PMID:Zernant 2017:28446513}" "" "c.666_678del (p.Lys223_Arg226delfs)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94098886_94098898del" "" "pathogenic (recessive)" ""
"0000767877" "1" "90" "1" "94564442" "94564454" "del" "0" "01695" "ABCA4_000377" "g.94564442_94564454del" "" "{PMID:Zernant 2017:28446513}" "" "c.666_678del (p.Lys223_Arg226delfs)" "" "Unknown" "yes" "" "0" "" "" "g.94098886_94098898del" "" "pathogenic (recessive)" ""
"0000767878" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Zernant 2017:28446513}" "" "c.[1622T>C;3113C>T] (p.[Leu541Pro;Ala1038Val])" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000767879" "0" "90" "1" "94510248" "94510248" "subst" "0.000544123" "01695" "ABCA4_000107" "g.94510248C>G" "" "{PMID:Zernant 2017:28446513}" "" "c.2971G>C (p.Gly991Arg)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94044692C>G" "" "pathogenic (recessive)" ""
"0000767880" "0" "70" "1" "94586550" "94586550" "subst" "1.21864E-5" "01695" "ABCA4_000037" "g.94586550G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.52C>T (p.Arg18Trp)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94120994G>A" "" "likely pathogenic (recessive)" ""
"0000767881" "3" "90" "1" "94564548" "94564548" "subst" "0" "01695" "ABCA4_000197" "g.94564548C>A" "" "{PMID:Zernant 2017:28446513}" "" "c.571-1G>T (p.?)" "" "Unknown" "yes" "" "0" "" "" "g.94098992C>A" "" "pathogenic (recessive)" ""
"0000767882" "0" "70" "1" "94506761" "94506761" "del" "0" "01695" "ABCA4_000613" "g.94506761del" "" "{PMID:Zernant 2017:28446513}" "" "c.3522+5del (p.?)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94041205del" "" "likely pathogenic (recessive)" ""
"0000767883" "3" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.5714+5G>A (p.?)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000767884" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Zernant 2017:28446513}" "" "c.[1622T>C;3113C>T] (p.[Leu541Pro;Ala1038Val])" "" "Unknown" "yes" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000767885" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Zernant 2017:28446513}" "" "c.[1622T>C;3113C>T] (p.[Leu541Pro;Ala1038Val])" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000767886" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Zernant 2017:28446513}" "" "c.1622T>C (p.Leu541Pro)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000767887" "0" "70" "1" "94528780" "94528780" "subst" "4.06171E-6" "01695" "ABCA4_000299" "g.94528780C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.1648G>A (p.Gly550Arg)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94063224C>T" "" "likely pathogenic (recessive)" ""
"0000767888" "0" "70" "1" "94526161" "94526161" "subst" "0" "01695" "ABCA4_002055" "g.94526161A>G" "" "{PMID:Zernant 2017:28446513}" "" "c.2092T>C (p.Cys698Arg)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94060605A>G" "" "likely pathogenic (recessive)" ""
"0000767889" "0" "70" "1" "94512478" "94512478" "subst" "3.65871E-5" "01695" "ABCA4_000678" "g.94512478G>T" "" "{PMID:Zernant 2017:28446513}" "" "c.2915C>A (p.Thr972Asn)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94046922G>T" "" "likely pathogenic (recessive)" ""
"0000767890" "1" "50" "1" "94506935" "94506935" "subst" "4.06098E-6" "01695" "ABCA4_000626" "g.94506935G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.3352C>T (p.His1118Tyr)" "" "Unknown" "yes" "" "0" "" "" "g.94041379G>A" "" "VUS" ""
"0000767891" "1" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.4139C>T (p.Pro1380Leu)" "" "Unknown" "yes" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000767892" "1" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.4139C>T (p.Pro1380Leu)" "" "Unknown" "yes" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000767893" "1" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.4139C>T (p.Pro1380Leu)" "" "Unknown" "yes" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000767894" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.4139C>T (p.Pro1380Leu)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000767895" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.4139C>T (p.Pro1380Leu)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000767896" "1" "90" "1" "94578583" "94578583" "del" "0" "01695" "ABCA4_000248" "g.94578583del" "" "{PMID:Zernant 2017:28446513}" "" "c.106del (p.Leu37fs)" "" "Unknown" "yes" "" "0" "" "" "g.94113027del" "" "pathogenic (recessive)" ""
"0000767897" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Zernant 2017:28446513}" "" "c.[1622T>C;3113C>T] (p.[Leu541Pro;Ala1038Val])" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000767898" "1" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.5882G>A (p.Gly1961Glu)" "" "Unknown" "yes" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000767899" "0" "90" "1" "94502346" "94502346" "subst" "0" "01695" "ABCA4_000593" "g.94502346T>C" "" "{PMID:Zernant 2017:28446513}" "" "c.3814-2A>G (p.?)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94036790T>C" "" "pathogenic (recessive)" ""
"0000767900" "1" "90" "1" "94481293" "94481293" "subst" "4.07448E-6" "01695" "ABCA4_000057" "g.94481293A>C" "" "{PMID:Zernant 2017:28446513}" "" "c.5312+2T>G (p.?)" "" "Unknown" "yes" "" "0" "" "" "g.94015737A>C" "" "pathogenic (recessive)" ""
"0000767901" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Zernant 2017:28446513}" "" "c.[1622T>C;3113C>T] (p.[Leu541Pro;Ala1038Val])" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000767902" "1" "70" "1" "94577135" "94577135" "subst" "2.43718E-5" "01695" "ABCA4_000240" "g.94577135C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.161G>A (p.Cys54Tyr)" "" "Unknown" "yes" "" "0" "" "" "g.94111579C>T" "" "likely pathogenic (recessive)" ""
"0000767903" "0" "90" "1" "94526265" "94526265" "subst" "0" "01695" "ABCA4_000143" "g.94526265C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.1988G>A (p.Trp663*)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94060709C>T" "" "pathogenic (recessive)" ""
"0000767904" "1" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.5882G>A (p.Gly1961Glu)" "" "Unknown" "yes" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000767905" "1" "70" "1" "94490567" "94490567" "subst" "5.68528E-5" "01695" "ABCA4_000026" "g.94490567G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.4577C>T (p.Thr1526Met)" "" "Unknown" "yes" "" "0" "" "" "g.94025011G>A" "" "likely pathogenic (recessive)" ""
"0000767906" "1" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.5882G>A (p.Gly1961Glu)" "" "Unknown" "yes" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000767907" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.5882G>A (p.Gly1961Glu)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000767908" "1" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.5882G>A (p.Gly1961Glu)" "" "Unknown" "yes" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000767909" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.5882G>A (p.Gly1961Glu)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000767910" "3" "70" "1" "94546283" "94546283" "subst" "8.18311E-5" "01695" "ABCA4_000356" "g.94546283A>G" "" "{PMID:Zernant 2017:28446513}" "" "c.859-9T>C (p.?)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94080727A>G" "" "likely pathogenic (recessive)" ""
"0000767911" "3" "70" "1" "94546283" "94546283" "subst" "8.18311E-5" "01695" "ABCA4_000356" "g.94546283A>G" "" "{PMID:Zernant 2017:28446513}" "" "c.859-9T>C (p.?)" "" "Unknown" "yes" "" "0" "" "" "g.94080727A>G" "" "likely pathogenic (recessive)" ""
"0000767912" "0" "70" "1" "94480241" "94480241" "subst" "7.71705E-5" "01695" "ABCA4_000446" "g.94480241G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.5318C>T (p.Ala1773Val)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94014685G>A" "" "likely pathogenic (recessive)" ""
"0000767913" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.5882G>A (p.Gly1961Glu)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000767914" "0" "90" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Zernant 2017:28446513}" "" "c.2894A>G (p.Asn965Ser)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94046943T>C" "" "pathogenic (recessive)" ""
"0000767915" "0" "70" "1" "94577102" "94577102" "subst" "4.06161E-6" "01695" "ABCA4_000033" "g.94577102C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.194G>A (p.Gly65Glu)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94111546C>T" "" "likely pathogenic (recessive)" ""
"0000767916" "1" "90" "1" "94526265" "94526265" "subst" "0" "01695" "ABCA4_000143" "g.94526265C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.1988G>A (p.Trp663*)" "" "Unknown" "yes" "" "0" "" "" "g.94060709C>T" "" "pathogenic (recessive)" ""
"0000767917" "1" "90" "1" "94577046" "94577049" "dup" "0" "01695" "ABCA4_000227" "g.94577046_94577049dup" "" "{PMID:Zernant 2017:28446513}" "" "c.247_250dup (p.Ser84fs)" "" "Unknown" "yes" "" "0" "" "" "g.94111490_94111493dup" "" "pathogenic (recessive)" ""
"0000767918" "1" "70" "1" "94495083" "94495083" "subst" "0.000124542" "01695" "ABCA4_000542" "g.94495083G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.4457C>T (p.Pro1486Leu)" "" "Unknown" "yes" "" "0" "" "" "g.94029527G>A" "" "likely pathogenic (recessive)" ""
"0000767919" "3" "70" "1" "94487251" "94487251" "subst" "2.85679E-5" "01695" "ABCA4_000490" "g.94487251G>T" "" "{PMID:Zernant 2017:28446513}" "" "c.4793C>A (p.Ala1598Asp)" "" "Unknown" "yes" "" "0" "" "" "g.94021695G>T" "" "likely pathogenic (recessive)" ""
"0000767920" "3" "70" "1" "94487251" "94487251" "subst" "2.85679E-5" "01695" "ABCA4_000490" "g.94487251G>T" "" "{PMID:Zernant 2017:28446513}" "" "c.4793C>A (p.Ala1598Asp)" "" "Unknown" "yes" "" "0" "" "" "g.94021695G>T" "" "likely pathogenic (recessive)" ""
"0000767921" "1" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Zernant 2017:28446513}" "" "c.3386G>T (p.Arg1129Leu)" "" "Unknown" "yes" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000767922" "3" "70" "1" "94480179" "94480179" "subst" "0" "01695" "ABCA4_000991" "g.94480179C>G" "" "{PMID:Zernant 2017:28446513}" "" "c.5380G>C (p.Ala1794Pro)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94014623C>G" "" "likely pathogenic (recessive)" ""
"0000767923" "0" "70" "1" "94508358" "94508358" "subst" "4.06167E-6" "01695" "ABCA4_000636" "g.94508358G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.3287C>T (p.Ser1096Leu)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94042802G>A" "" "likely pathogenic (recessive)" ""
"0000767924" "0" "70" "1" "94520801" "94520801" "subst" "0.000211489" "01695" "ABCA4_000724" "g.94520801C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.2453G>A (p.Gly818Glu)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94055245C>T" "" "likely pathogenic (recessive)" ""
"0000767925" "1" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.5882G>A (p.Gly1961Glu)" "" "Unknown" "yes" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000767926" "1" "50" "1" "94520694" "94520694" "subst" "8.12414E-6" "01695" "ABCA4_000712" "g.94520694C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.[2560G>A;3113C>T] (p.[Ala854Thr;Ala1038Val])" "" "Unknown" "yes" "" "0" "" "" "g.94055138C>T" "" "VUS" ""
"0000767927" "1" "70" "1" "94520793" "94520793" "subst" "8.13292E-6" "01695" "ABCA4_000723" "g.94520793A>T" "" "{PMID:Zernant 2017:28446513}" "" "c.2461T>A (p.Trp821Arg)" "" "Unknown" "yes" "" "0" "" "" "g.94055237A>T" "" "likely pathogenic (recessive)" ""
"0000767928" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.5882G>A (p.Gly1961Glu)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000767929" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.5714+5G>A (p.?)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000767930" "0" "90" "1" "94577046" "94577049" "dup" "0" "01695" "ABCA4_000227" "g.94577046_94577049dup" "" "{PMID:Zernant 2017:28446513}" "" "c.247_250dup (p.Ser84fs)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94111490_94111493dup" "" "pathogenic (recessive)" ""
"0000767931" "0" "70" "1" "94586550" "94586550" "subst" "1.21864E-5" "01695" "ABCA4_000037" "g.94586550G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.52C>T (p.Arg18Trp)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94120994G>A" "" "likely pathogenic (recessive)" ""
"0000767932" "3" "90" "1" "94548932" "94548932" "del" "4.06587E-6" "01695" "ABCA4_001022" "g.94548932del" "" "{PMID:Zernant 2017:28446513}" "" "c.834del (p.Asp279fs)" "" "Unknown" "yes" "" "0" "" "" "g.94083376del" "" "pathogenic (recessive)" ""
"0000767933" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Zernant 2017:28446513}" "" "c.[1622T>C;3113C>T] (p.[Leu541Pro;Ala1038Val])" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000767934" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Zernant 2017:28446513}" "" "c.[1622T>C;1933G>A;3113C>T] (p.[Leu541Pro;Asp645Asn;Ala1038Val])" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000767935" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Zernant 2017:28446513}" "" "c.[1622T>C;3113C>T] (p.[Leu541Pro;Ala1038Val])" "" "Unknown" "yes" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000767936" "1" "50" "1" "94520853" "94520853" "subst" "8.14783E-6" "01695" "ABCA4_000729" "g.94520853C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.2401G>A (p.Ala801Thr)" "" "Unknown" "yes" "" "0" "" "" "g.94055297C>T" "" "VUS" ""
"0000767937" "3" "90" "1" "94497474" "94497474" "subst" "0" "01695" "ABCA4_000583" "g.94497474C>A" "" "{PMID:Zernant 2017:28446513}" "" "c.3988G>T (p.Glu1330*)" "" "Unknown" "yes" "" "0" "" "" "g.94031918C>A" "" "pathogenic (recessive)" ""
"0000767938" "0" "70" "1" "94486960" "94486960" "subst" "0" "01695" "ABCA4_001421" "g.94486960C>A" "" "{PMID:Zernant 2017:28446513}" "" "c.4854G>T (p.Trp1618Cys)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94021404C>A" "" "likely pathogenic (recessive)" ""
"0000767939" "1" "90" "1" "94544895" "94544895" "subst" "1.62455E-5" "01695" "ABCA4_000329" "g.94544895G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.1222C>T (p.Arg408*)" "" "Unknown" "yes" "" "0" "" "" "g.94079339G>A" "" "pathogenic (recessive)" ""
"0000767940" "0" "70" "1" "94508322" "94508322" "subst" "1.62513E-5" "01695" "ABCA4_000128" "g.94508322C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.3323G>A (p.Arg1108His)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94042766C>T" "" "likely pathogenic (recessive)" ""
"0000767941" "0" "70" "1" "94578618" "94578618" "subst" "0.000166918" "01695" "ABCA4_000252" "g.94578618C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.71G>A (p.Arg24His)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94113062C>T" "" "likely pathogenic (recessive)" ""
"0000767942" "1" "50" "1" "94578589" "94578594" "del" "0" "01695" "ABCA4_000249" "g.94578589_94578594del" "" "{PMID:Zernant 2017:28446513}" "" "c.101_106del (p.Ser34_Leu35delfs)" "" "Unknown" "yes" "" "0" "" "" "g.94113033_94113038del" "" "VUS" ""
"0000767943" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.3113C>T (p.Ala1038Val)" "" "Unknown" "yes" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000767944" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Zernant 2017:28446513}" "" "c.[1622T>C;4328G>A] (p.[Leu541Pro;Arg1443His])" "" "Unknown" "yes" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000767945" "1" "50" "1" "94502756" "94502756" "subst" "0.000422575" "01695" "ABCA4_000032" "g.94502756G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.[3758C>T;5882G>A] (p.[Thr1253Met;Gly1961Glu])" "" "Unknown" "yes" "" "0" "" "" "g.94037200G>A" "" "VUS" ""
"0000767946" "1" "90" "1" "94586601" "94586601" "subst" "8.12156E-6" "01695" "ABCA4_000264" "g.94586601T>C" "" "{PMID:Zernant 2017:28446513}" "" "c.[1A>G;6089G>A] (p.[?;Arg2030Gln])" "" "Unknown" "yes" "" "0" "" "" "g.94121045T>C" "" "pathogenic (recessive)" ""
"0000767947" "1" "70" "1" "94502906" "94502906" "subst" "0.000314086" "01695" "ABCA4_000605" "g.94502906C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.[3608G>A;4537del] (p.[Gly1203Glu;Gln1513fs])" "" "Unknown" "yes" "" "0" "" "" "g.94037350C>T" "" "likely pathogenic (recessive)" ""
"0000767948" "1" "90" "1" "94545018" "94545018" "subst" "0" "01695" "ABCA4_000333" "g.94545018C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.1100-1G>A (p.?)" "" "Unknown" "yes" "" "0" "" "" "g.94079462C>T" "" "pathogenic (recessive)" ""
"0000767949" "0" "70" "1" "94578524" "94578524" "subst" "0" "01695" "ABCA4_000068" "g.94578524C>G" "" "{PMID:Zernant 2017:28446513}" "" "c.160+5G>C (p.?)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94112968C>G" "" "likely pathogenic (recessive)" ""
"0000767950" "1" "70" "1" "94510164" "94510164" "subst" "1.62441E-5" "01695" "ABCA4_000144" "g.94510164C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.3050+5G>A (p.?)" "" "Unknown" "yes" "" "0" "" "" "g.94044608C>T" "" "likely pathogenic (recessive)" ""
"0000767951" "1" "70" "1" "94510164" "94510164" "subst" "1.62441E-5" "01695" "ABCA4_000144" "g.94510164C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.3050+5G>A (p.?)" "" "Unknown" "yes" "" "0" "" "" "g.94044608C>T" "" "likely pathogenic (recessive)" ""
"0000767952" "0" "70" "1" "94510164" "94510164" "subst" "1.62441E-5" "01695" "ABCA4_000144" "g.94510164C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.3050+5G>A (p.?)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94044608C>T" "" "likely pathogenic (recessive)" ""
"0000767953" "0" "70" "1" "94510164" "94510164" "subst" "1.62441E-5" "01695" "ABCA4_000144" "g.94510164C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.3050+5G>A (p.?)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94044608C>T" "" "likely pathogenic (recessive)" ""
"0000767954" "0" "90" "1" "94495000" "94495000" "subst" "0" "01695" "ABCA4_000164" "g.94495000C>A" "" "{PMID:Zernant 2017:28446513}" "" "c.4539+1G>T (p.?)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94029444C>A" "" "pathogenic (recessive)" ""
"0000767955" "0" "90" "1" "94486794" "94486794" "subst" "0" "01695" "ABCA4_000478" "g.94486794A>G" "" "{PMID:Zernant 2017:28446513}" "" "c.5018+2T>C (p.?)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94021238A>G" "" "pathogenic (recessive)" ""
"0000767956" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Zernant 2017:28446513}" "" "c.[1622T>C;3113C>T] (p.[Leu541Pro;Ala1038Val])" "" "Unknown" "yes" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000767957" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Zernant 2017:28446513}" "" "c.[1622T>C;3113C>T] (p.[Leu541Pro;Ala1038Val])" "" "Unknown" "yes" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000767958" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Zernant 2017:28446513}" "" "c.[1622T>C;3113C>T] (p.[Leu541Pro;Ala1038Val])" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000767959" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Zernant 2017:28446513}" "" "c.[1622T>C;3113C>T] (p.[Leu541Pro;Ala1038Val])" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000767960" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Zernant 2017:28446513}" "" "c.[1622T>C;3113C>T] (p.[Leu541Pro;Ala1038Val])" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000767961" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Zernant 2017:28446513}" "" "c.[1622T>C;3113C>T] (p.[Leu541Pro;Ala1038Val])" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000767962" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Zernant 2017:28446513}" "" "c.[1622T>C;3113C>T] (p.[Leu541Pro;Ala1038Val])" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000767963" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Zernant 2017:28446513}" "" "c.[1622T>C;3113C>T] (p.[Leu541Pro;Ala1038Val])" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000767964" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Zernant 2017:28446513}" "" "c.[1622T>C;3113C>T] (p.[Leu541Pro;Ala1038Val])" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000767965" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Zernant 2017:28446513}" "" "c.[1622T>C;3113C>T] (p.[Leu541Pro;Ala1038Val])" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000767966" "0" "50" "1" "94544909" "94544909" "subst" "4.06111E-6" "01695" "ABCA4_000081" "g.94544909T>A" "" "{PMID:Zernant 2017:28446513}" "" "c.1208A>T (p.Asp403Val)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94079353T>A" "" "VUS" ""
"0000767967" "0" "70" "1" "94577135" "94577135" "subst" "2.43718E-5" "01695" "ABCA4_000240" "g.94577135C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.161G>A (p.Cys54Tyr)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94111579C>T" "" "likely pathogenic (recessive)" ""
"0000767968" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Zernant 2017:28446513}" "" "c.1622T>C (p.Leu541Pro)" "" "Unknown" "yes" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000767969" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.1804C>T (p.Arg602Trp)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94062710G>A" "" "pathogenic (recessive)" ""
"0000767970" "0" "70" "1" "94528251" "94528251" "subst" "0" "01695" "ABCA4_000283" "g.94528251C>A" "" "{PMID:Zernant 2017:28446513}" "" "c.1819G>T (p.Gly607Trp)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94062695C>A" "" "likely pathogenic (recessive)" ""
"0000767971" "0" "50" "1" "94528162" "94528162" "subst" "0" "01695" "ABCA4_000266" "g.94528162C>A" "" "{PMID:Zernant 2017:28446513}" "" "c.1908G>T (p.Gln636His)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94062606C>A" "" "VUS" ""
"0000767972" "0" "90" "1" "94526296" "94526296" "subst" "1.64555E-5" "01695" "ABCA4_000768" "g.94526296G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.1957C>T (p.Arg653Cys)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94060740G>A" "" "pathogenic (recessive)" ""
"0000767973" "1" "90" "1" "94526265" "94526265" "subst" "0" "01695" "ABCA4_000143" "g.94526265C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.1988G>A (p.Trp663*)" "" "Unknown" "yes" "" "0" "" "" "g.94060709C>T" "" "pathogenic (recessive)" ""
"0000767974" "1" "90" "1" "94586601" "94586601" "subst" "8.12156E-6" "01695" "ABCA4_000264" "g.94586601T>C" "" "{PMID:Zernant 2017:28446513}" "" "c.1A>G (p.?)" "" "Unknown" "yes" "" "0" "" "" "g.94121045T>C" "" "pathogenic (recessive)" ""
"0000767975" "0" "70" "1" "94520801" "94520801" "subst" "0" "01695" "ABCA4_000725" "g.94520801C>A" "" "{PMID:Zernant 2017:28446513}" "" "c.2453G>T (p.Gly818Val)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94055245C>A" "" "likely pathogenic (recessive)" ""
"0000767976" "1" "70" "1" "94577010" "94577010" "subst" "1.22004E-5" "01695" "ABCA4_000224" "g.94577010T>C" "" "{PMID:Zernant 2017:28446513}" "" "c.286A>G (p.Asn96Asp)" "" "Unknown" "yes" "" "0" "" "" "g.94111454T>C" "" "likely pathogenic (recessive)" ""
"0000767977" "0" "90" "1" "94510212" "94510212" "subst" "0" "01695" "ABCA4_000665" "g.94510212G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.3007C>T (p.Gln1003*)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94044656G>A" "" "pathogenic (recessive)" ""
"0000767978" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.3322C>T (p.Arg1108Cys)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000767979" "0" "70" "1" "94506923" "94506923" "subst" "2.43657E-5" "01695" "ABCA4_000012" "g.94506923C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.3364G>A (p.Glu1122Lys)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94041367C>T" "" "likely pathogenic (recessive)" ""
"0000767980" "0" "70" "1" "94506902" "94506902" "subst" "1.21834E-5" "01695" "ABCA4_000623" "g.94506902G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.3385C>T (p.Arg1129Cys)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94041346G>A" "" "likely pathogenic (recessive)" ""
"0000767981" "0" "70" "1" "94497392" "94497392" "subst" "0" "01695" "ABCA4_000577" "g.94497392G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.4070C>T (p.Ala1357Val)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94031836G>A" "" "likely pathogenic (recessive)" ""
"0000767982" "1" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.4139C>T (p.Pro1380Leu)" "" "Unknown" "yes" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000767983" "1" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.4139C>T (p.Pro1380Leu)" "" "Unknown" "yes" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000767984" "1" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.4139C>T (p.Pro1380Leu)" "" "Unknown" "yes" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000767985" "1" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.4139C>T (p.Pro1380Leu)" "" "Unknown" "yes" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000767986" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.4139C>T (p.Pro1380Leu)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000767987" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.4139C>T (p.Pro1380Leu)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000767988" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.4139C>T (p.Pro1380Leu)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000767989" "0" "90" "1" "94496571" "94496571" "subst" "4.06174E-6" "01695" "ABCA4_000111" "g.94496571G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.4234C>T (p.Gln1415*)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94031015G>A" "" "pathogenic (recessive)" ""
"0000767990" "0" "90" "1" "94496571" "94496571" "subst" "4.06174E-6" "01695" "ABCA4_000111" "g.94496571G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.4234C>T (p.Gln1415*)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94031015G>A" "" "pathogenic (recessive)" ""
"0000767991" "0" "70" "1" "94495078" "94495078" "subst" "8.37044E-6" "01695" "ABCA4_000042" "g.94495078A>G" "" "{PMID:Zernant 2017:28446513}" "" "c.4462T>C (p.Cys1488Arg)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94029522A>G" "" "likely pathogenic (recessive)" ""
"0000767992" "0" "90" "1" "94568687" "94568687" "subst" "1.62641E-5" "01695" "ABCA4_000024" "g.94568687G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.454C>T (p.Arg152*)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94103131G>A" "" "pathogenic (recessive)" ""
"0000767993" "1" "90" "1" "94586557" "94586557" "subst" "4.06134E-6" "01695" "ABCA4_000259" "g.94586557C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.45G>A (p.Trp15*)" "" "Unknown" "yes" "" "0" "" "" "g.94121001C>T" "" "pathogenic (recessive)" ""
"0000767994" "0" "70" "1" "94485247" "94485247" "subst" "4.07647E-5" "01695" "ABCA4_000475" "g.94485247C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.5087G>A (p.Ser1696Asn)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94019691C>T" "" "likely pathogenic (recessive)" ""
"0000767995" "0" "70" "1" "94485220" "94485220" "subst" "4.08938E-6" "01695" "ABCA4_000470" "g.94485220C>A" "" "{PMID:Zernant 2017:28446513}" "" "c.5114G>T (p.Arg1705Leu)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94019664C>A" "" "likely pathogenic (recessive)" ""
"0000767996" "0" "90" "1" "94480243" "94480243" "subst" "4.06124E-6" "01695" "ABCA4_000448" "g.94480243C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.5316G>A (p.Trp1772*)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94014687C>T" "" "pathogenic (recessive)" ""
"0000767997" "0" "70" "1" "94480241" "94480241" "subst" "7.71705E-5" "01695" "ABCA4_000446" "g.94480241G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.5318C>T (p.Ala1773Val)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94014685G>A" "" "likely pathogenic (recessive)" ""
"0000767998" "3" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.5882G>A (p.Gly1961Glu)" "" "Unknown" "yes" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000767999" "3" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.5882G>A (p.Gly1961Glu)" "" "Unknown" "yes" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000768000" "3" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.5882G>A (p.Gly1961Glu)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000768001" "3" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.5882G>A (p.Gly1961Glu)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000768002" "1" "90" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.634C>T (p.Arg212Cys)" "" "Unknown" "yes" "" "0" "" "" "g.94098928G>A" "" "pathogenic (recessive)" ""
"0000768003" "1" "90" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.634C>T (p.Arg212Cys)" "" "Unknown" "yes" "" "0" "" "" "g.94098928G>A" "" "pathogenic (recessive)" ""
"0000768004" "0" "70" "1" "94522340" "94522348" "del" "0" "01695" "ABCA4_002048" "g.94522340_94522348del" "" "{PMID:Zernant 2017:28446513}" "" "c.2191_2199del (p.Phe731_Leu733del)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94056784_94056792del" "" "likely pathogenic (recessive)" ""
"0000768005" "0" "90" "1" "94495009" "94495009" "dup" "0" "01695" "ABCA4_000087" "g.94495009dup" "" "{PMID:Zernant 2017:28446513}" "" "c.4537dup (p.Gln1513fs)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94029453dup" "" "pathogenic (recessive)" ""
"0000768006" "0" "90" "1" "94485137" "94485137" "subst" "0" "01695" "ABCA4_000464" "g.94485137C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.5196+1G>A (p.?)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94019581C>T" "" "pathogenic (recessive)" ""
"0000768007" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Zernant 2017:28446513}" "" "c.[1622T>C;3113C>T] (p.[Leu541Pro;Ala1038Val])" "" "Unknown" "yes" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000768008" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Zernant 2017:28446513}" "" "c.[1622T>C;3113C>T] (p.[Leu541Pro;Ala1038Val])" "" "Unknown" "yes" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000768009" "3" "70" "1" "94506880" "94506880" "subst" "0" "01695" "ABCA4_000865" "g.94506880C>A" "" "{PMID:Zernant 2017:28446513}" "" "c.3407G>T (p.Gly1136Val)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94041324C>A" "" "likely pathogenic (recessive)" ""
"0000768010" "3" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.5882G>A (p.Gly1961Glu)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000768011" "3" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.5882G>A (p.Gly1961Glu)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000768012" "1" "90" "1" "94486870" "94486870" "del" "0" "01695" "ABCA4_000483" "g.94486870del" "" "{PMID:Zernant 2017:28446513}" "" "c.4947del (p.Glu1650fs)" "" "Unknown" "yes" "" "0" "" "" "g.94021314del" "" "pathogenic (recessive)" ""
"0000768013" "0" "70" "1" "94510272" "94510272" "subst" "4.06062E-6" "01695" "ABCA4_000070" "g.94510272T>C" "" "{PMID:Zernant 2017:28446513}" "" "c.2947A>G (p.Thr983Ala)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94044716T>C" "" "likely pathogenic (recessive)" ""
"0000768014" "0" "70" "1" "94577010" "94577010" "subst" "1.22004E-5" "01695" "ABCA4_000224" "g.94577010T>C" "" "{PMID:Zernant 2017:28446513}" "" "c.286A>G (p.Asn96Asp)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94111454T>C" "" "likely pathogenic (recessive)" ""
"0000768015" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Zernant 2017:28446513}" "" "c.2588G>C (p.Gly863Ala)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000768016" "0" "90" "1" "94510248" "94510248" "subst" "0.000544123" "01695" "ABCA4_000107" "g.94510248C>G" "" "{PMID:Zernant 2017:28446513}" "" "c.2971G>C (p.Gly991Arg)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94044692C>G" "" "pathogenic (recessive)" ""
"0000768017" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Zernant 2017:28446513}" "" "c.[1622T>C;3113C>T] (p.[Leu541Pro;Ala1038Val])" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000768018" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Zernant 2017:28446513}" "" "c.[1622T>C;3113C>T] (p.[Leu541Pro;Ala1038Val])" "" "Unknown" "yes" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000768019" "0" "50" "1" "94510294" "94510294" "subst" "0" "01695" "ABCA4_000071" "g.94510294G>C" "" "{PMID:Zernant 2017:28446513}" "" "c.2925C>G (p.Ile975Met)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94044738G>C" "" "VUS" ""
"0000768020" "0" "90" "1" "94510248" "94510248" "subst" "0.000544123" "01695" "ABCA4_000107" "g.94510248C>G" "" "{PMID:Zernant 2017:28446513}" "" "c.2971G>C (p.Gly991Arg)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94044692C>G" "" "pathogenic (recessive)" ""
"0000768021" "1" "90" "1" "94510248" "94510248" "subst" "0.000544123" "01695" "ABCA4_000107" "g.94510248C>G" "" "{PMID:Zernant 2017:28446513}" "" "c.2971G>C (p.Gly991Arg)" "" "Unknown" "yes" "" "0" "" "" "g.94044692C>G" "" "pathogenic (recessive)" ""
"0000768022" "0" "50" "1" "94512580" "94512580" "subst" "2.8431E-5" "01695" "ABCA4_000695" "g.94512580A>G" "" "{PMID:Zernant 2017:28446513}" "" "c.2813T>C (p.Phe938Ser)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94047024A>G" "" "VUS" ""
"0000768023" "0" "70" "1" "94510272" "94510272" "subst" "4.06062E-6" "01695" "ABCA4_000070" "g.94510272T>C" "" "{PMID:Zernant 2017:28446513}" "" "c.2947A>G (p.Thr983Ala)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94044716T>C" "" "likely pathogenic (recessive)" ""
"0000768024" "0" "90" "1" "94485275" "94485275" "del" "0" "01695" "ABCA4_001017" "g.94485275del" "" "{PMID:Zernant 2017:28446513}" "" "c.5059del (p.Ile1687fs)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94019719del" "" "pathogenic (recessive)" ""
"0000768025" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.4139C>T (p.Pro1380Leu)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000768026" "0" "70" "1" "94578618" "94578618" "subst" "0.000166918" "01695" "ABCA4_000252" "g.94578618C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.[71G>A;5882G>A] (p.[Arg24His;Gly1961Glu])" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94113062C>T" "" "likely pathogenic (recessive)" ""
"0000768027" "0" "70" "1" "94496547" "94496547" "subst" "4.06345E-6" "01695" "ABCA4_000559" "g.94496547C>A" "" "{PMID:Zernant 2017:28446513}" "" "c.4253+5G>T (p.?)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94030991C>A" "" "likely pathogenic (recessive)" ""
"0000768028" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Zernant 2017:28446513}" "" "c.[1622T>C;3113C>T] (p.[Leu541Pro;Ala1038Val])" "" "Unknown" "yes" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000768029" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Zernant 2017:28446513}" "" "c.[1622T>C;3113C>T] (p.[Leu541Pro;Ala1038Val])" "" "Unknown" "yes" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000768030" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Zernant 2017:28446513}" "" "c.[1622T>C;3113C>T] (p.[Leu541Pro;Ala1038Val])" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000768031" "1" "70" "1" "94512478" "94512478" "subst" "3.65871E-5" "01695" "ABCA4_000678" "g.94512478G>T" "" "{PMID:Zernant 2017:28446513}" "" "c.2915C>A (p.Thr972Asn)" "" "Unknown" "yes" "" "0" "" "" "g.94046922G>T" "" "likely pathogenic (recessive)" ""
"0000768032" "1" "70" "1" "94508322" "94508322" "subst" "1.62513E-5" "01695" "ABCA4_000128" "g.94508322C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.3323G>A (p.Arg1108His)" "" "Unknown" "yes" "" "0" "" "" "g.94042766C>T" "" "likely pathogenic (recessive)" ""
"0000768033" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.4139C>T (p.Pro1380Leu)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000768034" "0" "70" "1" "94495083" "94495083" "subst" "0.000124542" "01695" "ABCA4_000542" "g.94495083G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.4457C>T (p.Pro1486Leu)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94029527G>A" "" "likely pathogenic (recessive)" ""
"0000768035" "0" "70" "1" "94490567" "94490567" "subst" "5.68528E-5" "01695" "ABCA4_000026" "g.94490567G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.4577C>T (p.Thr1526Met)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94025011G>A" "" "likely pathogenic (recessive)" ""
"0000768036" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.5882G>A (p.Gly1961Glu)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000768037" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.5882G>A (p.Gly1961Glu)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000768038" "0" "90" "1" "94508353" "94508353" "subst" "2.8431E-5" "01695" "ABCA4_000141" "g.94508353G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.3292C>T (p.Arg1098Cys)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94042797G>A" "" "pathogenic (recessive)" ""
"0000768039" "1" "90" "1" "94495103" "94495103" "subst" "0" "01695" "ABCA4_001813" "g.94495103C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.4437G>A (p.Trp1479*)" "" "Unknown" "yes" "" "0" "" "" "g.94029547C>T" "" "pathogenic (recessive)" ""
"0000768040" "3" "70" "1" "94463568" "94463603" "del" "0" "01695" "ABCA4_000805" "g.94463568_94463603del" "" "{PMID:Zernant 2017:28446513}" "" "c.6543_6578del (p.Leu2182_Phe2193del)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.93998012_93998047del" "" "likely pathogenic (recessive)" ""
"0000768041" "0" "70" "1" "94546283" "94546283" "subst" "8.18311E-5" "01695" "ABCA4_000356" "g.94546283A>G" "" "{PMID:Zernant 2017:28446513}" "" "c.859-9T>C (p.?)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94080727A>G" "" "likely pathogenic (recessive)" ""
"0000768042" "3" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Zernant 2017:28446513}" "" "c.1622T>C (p.Leu541Pro)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000768043" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Zernant 2017:28446513}" "" "c.[1622T>C;3113C>T] (p.[Leu541Pro;Ala1038Val])" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000768044" "0" "70" "1" "94520793" "94520793" "subst" "8.13292E-6" "01695" "ABCA4_000723" "g.94520793A>T" "" "{PMID:Zernant 2017:28446513}" "" "c.2461T>A (p.Trp821Arg)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94055237A>T" "" "likely pathogenic (recessive)" ""
"0000768045" "3" "90" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Zernant 2017:28446513}" "" "c.2894A>G (p.Asn965Ser)" "" "Unknown" "yes" "" "0" "" "" "g.94046943T>C" "" "pathogenic (recessive)" ""
"0000768046" "0" "90" "1" "94526212" "94526212" "subst" "1.22012E-5" "01695" "ABCA4_000075" "g.94526212G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.2041C>T (p.Arg681*)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94060656G>A" "" "pathogenic (recessive)" ""
"0000768047" "1" "50" "1" "94502756" "94502756" "subst" "0.000422575" "01695" "ABCA4_000032" "g.94502756G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.[3758C>T;5882G>A] (p.[Thr1253Met;Gly1961Glu])" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94037200G>A" "" "VUS" ""
"0000768048" "1" "50" "1" "94502756" "94502756" "subst" "0.000422575" "01695" "ABCA4_000032" "g.94502756G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.[3758C>T;5882G>A] (p.[Thr1253Met;Gly1961Glu])" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94037200G>A" "" "VUS" ""
"0000768049" "1" "50" "1" "94502756" "94502756" "subst" "0.000422575" "01695" "ABCA4_000032" "g.94502756G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.[3758C>T;5882G>A] (p.[Thr1253Met;Gly1961Glu])" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94037200G>A" "" "VUS" ""
"0000768050" "1" "90" "1" "94586601" "94586601" "subst" "8.12156E-6" "01695" "ABCA4_000264" "g.94586601T>C" "" "{PMID:Zernant 2017:28446513}" "" "c.[1A>G;6089G>A] (p.[?;Arg2030Gln])" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94121045T>C" "" "pathogenic (recessive)" ""
"0000768051" "1" "70" "1" "94510164" "94510164" "subst" "1.62441E-5" "01695" "ABCA4_000144" "g.94510164C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.3050+5G>A (p.?)" "" "Unknown" "yes" "" "0" "" "" "g.94044608C>T" "" "likely pathogenic (recessive)" ""
"0000768052" "0" "70" "1" "94546283" "94546283" "subst" "8.18311E-5" "01695" "ABCA4_000356" "g.94546283A>G" "" "{PMID:Zernant 2017:28446513}" "" "c.859-9T>C (p.?)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94080727A>G" "" "likely pathogenic (recessive)" ""
"0000768053" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.3322C>T (p.Arg1108Cys)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000768054" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.3322C>T (p.Arg1108Cys)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000768055" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.3322C>T (p.Arg1108Cys)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000768056" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.3322C>T (p.Arg1108Cys)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000768057" "1" "70" "1" "94508322" "94508322" "subst" "1.62513E-5" "01695" "ABCA4_000128" "g.94508322C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.3323G>A (p.Arg1108His)" "" "Unknown" "yes" "" "0" "" "" "g.94042766C>T" "" "likely pathogenic (recessive)" ""
"0000768058" "0" "70" "1" "94508322" "94508322" "subst" "1.62513E-5" "01695" "ABCA4_000128" "g.94508322C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.3323G>A (p.Arg1108His)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94042766C>T" "" "likely pathogenic (recessive)" ""
"0000768059" "0" "90" "1" "94497551" "94497551" "subst" "0" "01695" "ABCA4_000586" "g.94497551A>T" "" "{PMID:Zernant 2017:28446513}" "" "c.3911T>A (p.Leu1304*)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94031995A>T" "" "pathogenic (recessive)" ""
"0000768060" "3" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.4139C>T (p.Pro1380Leu)" "" "Unknown" "yes" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000768061" "3" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.4139C>T (p.Pro1380Leu)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000768062" "3" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.4139C>T (p.Pro1380Leu)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000768063" "3" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.4139C>T (p.Pro1380Leu)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000768064" "3" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.4139C>T (p.Pro1380Leu)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000768065" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.5882G>A (p.Gly1961Glu)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000768066" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Zernant 2017:28446513}" "" "c.768G>T (p.?)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000768067" "1" "90" "1" "94546098" "94546111" "del" "0" "01695" "ABCA4_000022" "g.94546098_94546111del" "" "{PMID:Zernant 2017:28446513}" "" "c.1025_1038del (p.Asp342_Lys346delfs)" "" "Unknown" "yes" "" "0" "" "" "g.94080542_94080555del" "" "pathogenic (recessive)" ""
"0000768068" "0" "90" "1" "94506817" "94506817" "subst" "0" "01695" "ABCA4_001342" "g.94506817A>C" "" "{PMID:Zernant 2017:28446513}" "" "c.3470T>G (p.Leu1157*)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94041261A>C" "" "pathogenic (recessive)" ""
"0000768069" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Zernant 2017:28446513}" "" "c.[1622T>C;3113C>T] (p.[Leu541Pro;Ala1038Val])" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000768070" "1" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.3322C>T (p.Arg1108Cys)" "" "Unknown" "yes" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000768071" "1" "90" "1" "94586536" "94586536" "subst" "0" "01695" "ABCA4_000255" "g.94586536C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.66G>A (p.?)" "" "Unknown" "yes" "" "0" "" "" "g.94120980C>T" "" "pathogenic (recessive)" ""
"0000768072" "1" "70" "1" "94517215" "94517215" "subst" "0" "01695" "ABCA4_002001" "g.94517215T>G" "" "{PMID:Zernant 2017:28446513}" "" "c.[2627A>C;3322C>T] (p.[Gln876Pro;Arg1108Cys])" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94051659T>G" "" "likely pathogenic (recessive)" ""
"0000768073" "0" "90" "1" "94528251" "94528251" "subst" "2.84824E-5" "01695" "ABCA4_000281" "g.94528251C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.1819G>A (p.Gly607Arg)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94062695C>T" "" "pathogenic (recessive)" ""
"0000768074" "0" "50" "1" "94517225" "94517225" "subst" "8.12249E-6" "01695" "ABCA4_000703" "g.94517225A>G" "" "{PMID:Zernant 2017:28446513}" "" "c.2617T>C (p.Phe873Leu)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94051669A>G" "" "VUS" ""
"0000768075" "3" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.3322C>T (p.Arg1108Cys)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000768076" "0" "70" "1" "94510272" "94510272" "subst" "4.06062E-6" "01695" "ABCA4_000070" "g.94510272T>C" "" "{PMID:Zernant 2017:28446513}" "" "c.2947A>G (p.Thr983Ala)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94044716T>C" "" "likely pathogenic (recessive)" ""
"0000768077" "1" "70" "1" "94508358" "94508358" "subst" "4.06167E-6" "01695" "ABCA4_000636" "g.94508358G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.3287C>T (p.Ser1096Leu)" "" "Unknown" "yes" "" "0" "" "" "g.94042802G>A" "" "likely pathogenic (recessive)" ""
"0000768078" "1" "90" "1" "94568663" "94568663" "subst" "0" "01695" "ABCA4_000209" "g.94568663C>A" "" "{PMID:Zernant 2017:28446513}" "" "c.478G>T (p.Glu160*)" "" "Unknown" "yes" "" "0" "" "" "g.94103107C>A" "" "pathogenic (recessive)" ""
"0000768079" "0" "90" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.634C>T (p.Arg212Cys)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94098928G>A" "" "pathogenic (recessive)" ""
"0000768080" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Zernant 2017:28446513}" "" "c.[1622T>C;3113C>T] (p.[Leu541Pro;Ala1038Val])" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000768081" "0" "90" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Zernant 2017:28446513}" "" "c.2894A>G (p.Asn965Ser)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94046943T>C" "" "pathogenic (recessive)" ""
"0000768082" "1" "90" "1" "94546098" "94546111" "del" "0" "01695" "ABCA4_000022" "g.94546098_94546111del" "" "{PMID:Zernant 2017:28446513}" "" "c.1025_1038del (p.Asp342_Lys346delfs)" "" "Unknown" "yes" "" "0" "" "" "g.94080542_94080555del" "" "pathogenic (recessive)" ""
"0000768083" "1" "50" "1" "94512580" "94512580" "subst" "2.8431E-5" "01695" "ABCA4_000695" "g.94512580A>G" "" "{PMID:Zernant 2017:28446513}" "" "c.2813T>C (p.Phe938Ser)" "" "Unknown" "yes" "" "0" "" "" "g.94047024A>G" "" "VUS" ""
"0000768084" "1" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.1804C>T (p.Arg602Trp)" "" "Unknown" "yes" "" "0" "" "" "g.94062710G>A" "" "pathogenic (recessive)" ""
"0000768085" "3" "90" "1" "94488942" "94488942" "subst" "0" "01695" "ABCA4_001254" "g.94488942C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.4667G>A (p.Arg1556Lys)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94023386C>T" "" "pathogenic (recessive)" ""
"0000768086" "0" "90" "1" "94509026" "94509026" "subst" "4.06497E-5" "01695" "ABCA4_000660" "g.94509026G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.3056C>T (p.Thr1019Met)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94043470G>A" "" "pathogenic (recessive)" ""
"0000768087" "1" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.3322C>T (p.Arg1108Cys)" "" "Unknown" "yes" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000768088" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.4139C>T (p.Pro1380Leu)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000768089" "0" "90" "1" "94485137" "94485137" "subst" "0" "01695" "ABCA4_000464" "g.94485137C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.5196+1G>A (p.?)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94019581C>T" "" "pathogenic (recessive)" ""
"0000768090" "0" "70" "1" "94528780" "94528780" "subst" "4.06171E-6" "01695" "ABCA4_000299" "g.94528780C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.1648G>A (p.Gly550Arg)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94063224C>T" "" "likely pathogenic (recessive)" ""
"0000768091" "1" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.4139C>T (p.Pro1380Leu)" "" "Unknown" "yes" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000768092" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.6079C>T (p.L2027Phe)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic (recessive)" ""
"0000768093" "0" "90" "1" "94564402" "94564402" "subst" "4.06118E-6" "01695" "ABCA4_002178" "g.94564402C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.716G>A (p.Trp239*)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94098846C>T" "" "pathogenic (recessive)" ""
"0000768094" "0" "90" "1" "94481293" "94481293" "subst" "4.07448E-6" "01695" "ABCA4_000057" "g.94481293A>C" "" "{PMID:Zernant 2017:28446513}" "" "c.5312+2T>G (p.?)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94015737A>C" "" "pathogenic (recessive)" ""
"0000768095" "3" "90" "1" "94471056" "94471056" "subst" "2.84398E-5" "01695" "ABCA4_000050" "g.94471056G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.6088C>T (p.Arg2030*)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94005500G>A" "" "pathogenic (recessive)" ""
"0000768096" "0" "90" "1" "94543426" "94543426" "del" "0" "01695" "ABCA4_000314" "g.94543426del" "" "{PMID:Zernant 2017:28446513}" "" "c.1374del (p.Thr459fs)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94077870del" "" "pathogenic (recessive)" ""
"0000768097" "1" "70" "1" "94490567" "94490567" "subst" "5.68528E-5" "01695" "ABCA4_000026" "g.94490567G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.4577C>T (p.Thr1526Met)" "" "Unknown" "yes" "" "0" "" "" "g.94025011G>A" "" "likely pathogenic (recessive)" ""
"0000768098" "0" "90" "1" "94528251" "94528251" "subst" "2.84824E-5" "01695" "ABCA4_000281" "g.94528251C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.1819G>A (p.Gly607Arg)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94062695C>T" "" "pathogenic (recessive)" ""
"0000768099" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.5882G>A (p.Gly1961Glu)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000768100" "1" "70" "1" "94564430" "94564430" "subst" "0" "01695" "ABCA4_000376" "g.94564430A>T" "" "{PMID:Zernant 2017:28446513}" "" "c.688T>A (p.Cys230Ser" "" "Unknown" "yes" "" "0" "" "" "g.94098874A>T" "" "likely pathogenic (recessive)" ""
"0000768101" "0" "70" "1" "94506902" "94506902" "subst" "1.21834E-5" "01695" "ABCA4_000623" "g.94506902G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.3385C>T (p.Arg1129Cys)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94041346G>A" "" "likely pathogenic (recessive)" ""
"0000768102" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.5882G>A (p.Gly1961Glu)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000768103" "1" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.6079C>T (p.L2027Phe)" "" "Unknown" "yes" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic (recessive)" ""
"0000768104" "1" "70" "1" "94496547" "94496547" "subst" "1.21904E-5" "01695" "ABCA4_000560" "g.94496547C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.4253+5G>A (p.?)" "" "Unknown" "yes" "" "0" "" "" "g.94030991C>T" "" "likely pathogenic (recessive)" ""
"0000768105" "0" "90" "1" "94497564" "94497564" "subst" "1.64383E-5" "01695" "ABCA4_000091" "g.94497564G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.3898C>T (p.Arg1300*)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94032008G>A" "" "pathogenic (recessive)" ""
"0000768106" "0" "70" "1" "94495002" "94495002" "subst" "0" "01695" "ABCA4_000533" "g.94495002T>C" "" "{PMID:Zernant 2017:28446513}" "" "c.4538A>G (p.Gln1513Arg)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94029446T>C" "" "likely pathogenic (recessive)" ""
"0000768107" "0" "90" "1" "94505651" "94505652" "delins" "0" "01695" "ABCA4_001890" "g.94505651_94505652delinsTC" "" "{PMID:Zernant 2017:28446513}" "" "c.3554_3555CC>GA (p.Ser1185*)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94040095_94040096delinsTC" "" "pathogenic (recessive)" ""
"0000768108" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.1804C>T (p.Arg602Trp)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94062710G>A" "" "pathogenic (recessive)" ""
"0000768109" "0" "90" "1" "94576993" "94576993" "subst" "2.03513E-5" "01695" "ABCA4_000069" "g.94576993C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.302+1G>A (p.?)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94111437C>T" "" "pathogenic (recessive)" ""
"0000768110" "1" "70" "1" "94510164" "94510164" "subst" "1.62441E-5" "01695" "ABCA4_000144" "g.94510164C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.3050+5G>A (p.?)" "" "Unknown" "yes" "" "0" "" "" "g.94044608C>T" "" "likely pathogenic (recessive)" ""
"0000768111" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Zernant 2017:28446513}" "" "c.768G>T (p.?)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000768112" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Zernant 2017:28446513}" "" "c.[1622T>C;3113C>T] (p.[Leu541Pro;Ala1038Val])" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000768113" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Zernant 2017:28446513}" "" "c.[1622T>C;3113C>T] (p.[Leu541Pro;Ala1038Val])" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000768114" "0" "70" "1" "94546118" "94546118" "subst" "8.13326E-6" "01695" "ABCA4_000082" "g.94546118A>C" "" "{PMID:Zernant 2017:28446513}" "" "c.1015T>G (p.Trp339Gly)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94080562A>C" "" "likely pathogenic (recessive)" ""
"0000768115" "1" "50" "1" "94528851" "94528851" "subst" "0" "01695" "ABCA4_000303" "g.94528851T>G" "" "{PMID:Zernant 2017:28446513}" "" "c.1577A>C (p.Glu526Ala)" "" "Unknown" "yes" "" "0" "" "" "g.94063295T>G" "" "VUS" ""
"0000768116" "0" "50" "1" "94528851" "94528851" "subst" "0" "01695" "ABCA4_000303" "g.94528851T>G" "" "{PMID:Zernant 2017:28446513}" "" "c.1577A>C (p.Glu526Ala)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94063295T>G" "" "VUS" ""
"0000768117" "0" "70" "1" "94528819" "94528819" "subst" "2.03128E-5" "01695" "ABCA4_000078" "g.94528819G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.1609C>T (p.Arg537Cys)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94063263G>A" "" "likely pathogenic (recessive)" ""
"0000768118" "0" "90" "1" "94510253" "94510253" "subst" "0.000247694" "01695" "ABCA4_000108" "g.94510253A>G" "" "{PMID:Zernant 2017:28446513}" "" "c.2966T>C (p.Val989Ala)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94044697A>G" "" "pathogenic (recessive)" ""
"0000768119" "0" "90" "1" "94510248" "94510248" "subst" "0.000544123" "01695" "ABCA4_000107" "g.94510248C>G" "" "{PMID:Zernant 2017:28446513}" "" "c.2971G>C (p.Gly991Arg)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94044692C>G" "" "pathogenic (recessive)" ""
"0000768120" "0" "70" "1" "94496582" "94496582" "subst" "0" "01695" "ABCA4_000089" "g.94496582C>A" "" "{PMID:Zernant 2017:28446513}" "" "c.4223G>T (p.Trp1408Leu)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94031026C>A" "" "likely pathogenic (recessive)" ""
"0000768121" "1" "70" "1" "94574147" "94574147" "subst" "8.12236E-6" "01695" "ABCA4_000213" "g.94574147G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.428C>T (p.Pro143Leu)" "" "Unknown" "yes" "" "0" "" "" "g.94108591G>A" "" "likely pathogenic (recessive)" ""
"0000768122" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.6079C>T (p.L2027Phe)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic (recessive)" ""
"0000768123" "0" "70" "1" "94467467" "94467467" "subst" "4.06164E-6" "01695" "ABCA4_000095" "g.94467467G>C" "" "{PMID:Zernant 2017:28446513}" "" "c.6229C>G (p.Arg2077Gly)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94001911G>C" "" "likely pathogenic (recessive)" ""
"0000768124" "0" "90" "1" "94466628" "94466628" "subst" "0.000109748" "01695" "ABCA4_000094" "g.94466628G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.6316C>T (p.Arg2106Cys)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94001072G>A" "" "pathogenic (recessive)" ""
"0000768125" "3" "90" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.6320G>A (p.Arg2107His)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94001068C>T" "" "pathogenic (recessive)" ""
"0000768126" "0" "50" "1" "94564460" "94564460" "subst" "8.1355E-6" "01695" "ABCA4_000056" "g.94564460G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.658C>T (p.Arg220Cys)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94098904G>A" "" "VUS" ""
"0000768127" "3" "90" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.634C>T (p.Arg212Cys)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94098928G>A" "" "pathogenic (recessive)" ""
"0000768128" "0" "90" "1" "94568687" "94568687" "subst" "1.62641E-5" "01695" "ABCA4_000024" "g.94568687G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.454C>T (p.Arg152*)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94103131G>A" "" "pathogenic (recessive)" ""
"0000768129" "1" "90" "1" "94546248" "94546248" "del" "2.03666E-5" "01695" "ABCA4_000352" "g.94546248del" "" "{PMID:Zernant 2017:28446513}" "" "c.885del (p.Leu296fs)" "" "Unknown" "yes" "" "0" "" "" "g.94080692del" "" "pathogenic (recessive)" ""
"0000768130" "0" "90" "1" "94546248" "94546248" "del" "2.03666E-5" "01695" "ABCA4_000352" "g.94546248del" "" "{PMID:Zernant 2017:28446513}" "" "c.885del (p.Leu296fs)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94080692del" "" "pathogenic (recessive)" ""
"0000768131" "3" "70" "1" "94528265" "94528265" "subst" "2.44212E-5" "01695" "ABCA4_000284" "g.94528265C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.1805G>A (p.Arg602Gln)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94062709C>T" "" "likely pathogenic (recessive)" ""
"0000768132" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.4139C>T (p.Pro1380Leu)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000768133" "1" "90" "1" "94485137" "94485137" "subst" "0" "01695" "ABCA4_000464" "g.94485137C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.5196+1G>A (p.?)" "" "Unknown" "yes" "" "0" "" "" "g.94019581C>T" "" "pathogenic (recessive)" ""
"0000768134" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Zernant 2017:28446513}" "" "c.[1622T>C;3113C>T] (p.[Leu541Pro;Ala1038Val])" "" "Unknown" "yes" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000768135" "1" "70" "1" "94496583" "94496583" "subst" "2.03092E-5" "01695" "ABCA4_000190" "g.94496583A>G" "" "{PMID:Zernant 2017:28446513}" "" "c.[4222T>C;4918C>T] (p.[Trp1408Arg;Arg1640Trp])" "" "Unknown" "yes" "" "0" "" "" "g.94031027A>G" "" "likely pathogenic (recessive)" ""
"0000768136" "3" "90" "1" "94509026" "94509026" "subst" "4.06497E-5" "01695" "ABCA4_000660" "g.94509026G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.3056C>T (p.Thr1019Met)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94043470G>A" "" "pathogenic (recessive)" ""
"0000768137" "3" "90" "1" "94497427" "94497428" "del" "0" "01695" "ABCA4_000580" "g.94497427_94497428del" "" "{PMID:Zernant 2017:28446513}" "" "c.4036_4037del (p.Thr1346fs)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94031871_94031872del" "" "pathogenic (recessive)" ""
"0000768138" "1" "90" "1" "94520690" "94520690" "subst" "2.03102E-5" "01695" "ABCA4_000149" "g.94520690C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.2564G>A (p.Trp855*)" "" "Unknown" "yes" "" "0" "" "" "g.94055134C>T" "" "pathogenic (recessive)" ""
"0000768139" "3" "70" "1" "94490567" "94490567" "subst" "5.68528E-5" "01695" "ABCA4_000026" "g.94490567G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.4577C>T (p.Thr1526Met)" "" "Unknown" "yes" "" "0" "" "" "g.94025011G>A" "" "likely pathogenic (recessive)" ""
"0000768140" "1" "90" "1" "94544895" "94544895" "subst" "1.62455E-5" "01695" "ABCA4_000329" "g.94544895G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.1222C>T (p.Arg408*)" "" "Unknown" "yes" "" "0" "" "" "g.94079339G>A" "" "pathogenic (recessive)" ""
"0000768141" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.4139C>T (p.Pro1380Leu)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000768142" "1" "90" "1" "94495009" "94495009" "dup" "0" "01695" "ABCA4_000087" "g.94495009dup" "" "{PMID:Zernant 2017:28446513}" "" "c.4537dup (p.Gln1513fs)" "" "Unknown" "yes" "" "0" "" "" "g.94029453dup" "" "pathogenic (recessive)" ""
"0000768143" "0" "90" "1" "94510253" "94510253" "subst" "0.000247694" "01695" "ABCA4_000108" "g.94510253A>G" "" "{PMID:Zernant 2017:28446513}" "" "c.2966T>C (p.Val989Ala)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94044697A>G" "" "pathogenic (recessive)" ""
"0000768144" "0" "90" "1" "94510253" "94510253" "subst" "0.000247694" "01695" "ABCA4_000108" "g.94510253A>G" "" "{PMID:Zernant 2017:28446513}" "" "c.2966T>C (p.Val989Ala)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94044697A>G" "" "pathogenic (recessive)" ""
"0000768145" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.5714+5G>A (p.?)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000768146" "1" "70" "1" "94546283" "94546283" "subst" "8.18311E-5" "01695" "ABCA4_000356" "g.94546283A>G" "" "{PMID:Zernant 2017:28446513}" "" "c.859-9T>C (p.?)" "" "Unknown" "yes" "" "0" "" "" "g.94080727A>G" "" "likely pathogenic (recessive)" ""
"0000768147" "0" "90" "1" "94495006" "94495016" "del" "0" "01695" "ABCA4_001801" "g.94495006_94495016del" "" "{PMID:Zernant 2017:28446513}" "" "c.4524_4534del (p.Leu1509_Pro1511delfs)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94029450_94029460del" "" "pathogenic (recessive)" ""
"0000768148" "1" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.5714+5G>A (p.?)" "" "Unknown" "yes" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000768149" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.5882G>A (p.Gly1961Glu)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000768150" "1" "90" "1" "94510253" "94510253" "subst" "0.000247694" "01695" "ABCA4_000108" "g.94510253A>G" "" "{PMID:Zernant 2017:28446513}" "" "c.2966T>C (p.Val989Ala)" "" "Unknown" "yes" "" "0" "" "" "g.94044697A>G" "" "pathogenic (recessive)" ""
"0000768151" "1" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.5882G>A (p.Gly1961Glu)" "" "Unknown" "yes" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000768152" "0" "70" "1" "94578618" "94578618" "subst" "0.000166918" "01695" "ABCA4_000252" "g.94578618C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.71G>A (p.Arg24His)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94113062C>T" "" "likely pathogenic (recessive)" ""
"0000768153" "0" "90" "1" "94526296" "94526296" "subst" "1.64555E-5" "01695" "ABCA4_000768" "g.94526296G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.1957C>T (p.Arg653Cys)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94060740G>A" "" "pathogenic (recessive)" ""
"0000768154" "1" "90" "1" "94526258" "94526258" "subst" "4.07183E-6" "01695" "ABCA4_000762" "g.94526258G>T" "" "{PMID:Zernant 2017:28446513}" "" "c.1995C>A (p.Tyr665*)" "" "Unknown" "yes" "" "0" "" "" "g.94060702G>T" "" "pathogenic (recessive)" ""
"0000768155" "3" "90" "1" "94510253" "94510253" "subst" "0.000247694" "01695" "ABCA4_000108" "g.94510253A>G" "" "{PMID:Zernant 2017:28446513}" "" "c.2966T>C (p.Val989Ala)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94044697A>G" "" "pathogenic (recessive)" ""
"0000768156" "0" "70" "1" "94586550" "94586550" "subst" "1.21864E-5" "01695" "ABCA4_000037" "g.94586550G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.52C>T (p.Arg18Trp)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94120994G>A" "" "likely pathogenic (recessive)" ""
"0000768157" "0" "90" "1" "94544185" "94544185" "subst" "8.12137E-6" "01695" "ABCA4_000177" "g.94544185C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.1317G>A (p.Trp439*)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94078629C>T" "" "pathogenic (recessive)" ""
"0000768158" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.4139C>T (p.Pro1380Leu)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000768159" "1" "50" "1" "94480164" "94480164" "subst" "0" "01695" "ABCA4_000440" "g.94480164T>C" "" "{PMID:Zernant 2017:28446513}" "" "c.5395A>G (p.Asn1799Asp)" "" "Unknown" "yes" "" "0" "" "" "g.94014608T>C" "" "VUS" ""
"0000768160" "1" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Zernant 2017:28446513}" "" "c.2588G>C (p.Gly863Ala)" "" "Unknown" "yes" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000768161" "1" "70" "1" "94487505" "94487505" "subst" "4.06349E-6" "01695" "ABCA4_000507" "g.94487505T>C" "" "{PMID:Zernant 2017:28446513}" "" "c.4670A>G (p.Tyr1557Cys)" "" "Unknown" "yes" "" "0" "" "" "g.94021949T>C" "" "likely pathogenic (recessive)" ""
"0000768162" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Zernant 2017:28446513}" "" "c.5461-10T>C (p.?)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000768163" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Zernant 2017:28446513}" "" "c.5461-10T>C (p.?)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000768164" "0" "90" "1" "94564463" "94564463" "subst" "0" "01695" "ABCA4_000381" "g.94564463T>A" "" "{PMID:Zernant 2017:28446513}" "" "c.655A>T (p.Arg219*)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94098907T>A" "" "pathogenic (recessive)" ""
"0000768165" "1" "70" "1" "94506806" "94506806" "subst" "0" "01695" "ABCA4_000614" "g.94506806G>T" "" "{PMID:Zernant 2017:28446513}" "" "c.[3481C>A;5714+5G>A] (p.[Arg1161Ser;?])" "" "Unknown" "yes" "" "0" "" "" "g.94041250G>T" "" "likely pathogenic (recessive)" ""
"0000768166" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Zernant 2017:28446513}" "" "c.[1622T>C;3113C>T] (p.[Leu541Pro;Ala1038Val])" "" "Unknown" "yes" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000768167" "0" "70" "1" "94496558" "94496560" "del" "0" "01695" "ABCA4_000561" "g.94496558_94496560del" "" "{PMID:Zernant 2017:28446513}" "" "c.4249_4251del (p.Phe1417del)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94031002_94031004del" "" "likely pathogenic (recessive)" ""
"0000768168" "1" "90" "1" "94577046" "94577049" "dup" "0" "01695" "ABCA4_000227" "g.94577046_94577049dup" "" "{PMID:Zernant 2017:28446513}" "" "c.247_250dup (p.Ser84fs)" "" "Unknown" "yes" "" "0" "" "" "g.94111490_94111493dup" "" "pathogenic (recessive)" ""
"0000768169" "1" "70" "1" "94577135" "94577135" "subst" "2.43718E-5" "01695" "ABCA4_000240" "g.94577135C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.161G>A (p.Cys54Tyr)" "" "Unknown" "yes" "" "0" "" "" "g.94111579C>T" "" "likely pathogenic (recessive)" ""
"0000768170" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Zernant 2017:28446513}" "" "c.[1622T>C;3113C>T] (p.[Leu541Pro;Ala1038Val])" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000768171" "3" "70" "1" "94578598" "94578598" "subst" "0" "01695" "ABCA4_000251" "g.94578598A>G" "" "{PMID:Zernant 2017:28446513}" "" "c.91T>C (p.Trp31Arg)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94113042A>G" "" "likely pathogenic (recessive)" ""
"0000768172" "3" "90" "1" "94578596" "94578596" "subst" "4.06478E-6" "01695" "ABCA4_000250" "g.94578596C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.93G>A (p.Trp31*)" "" "Unknown" "yes" "" "0" "" "" "g.94113040C>T" "" "pathogenic (recessive)" ""
"0000768173" "0" "90" "1" "94486794" "94486794" "subst" "0" "01695" "ABCA4_000478" "g.94486794A>G" "" "{PMID:Zernant 2017:28446513}" "" "c.5018+2T>C (p.?)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94021238A>G" "" "pathogenic (recessive)" ""
"0000768174" "3" "70" "1" "94577117" "94577117" "subst" "1.62472E-5" "01695" "ABCA4_000237" "g.94577117G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.[179C>T;3830C>T] (p.[Ala60Val;Thr1277Met])" "" "Unknown" "yes" "" "0" "" "" "g.94111561G>A" "" "likely pathogenic (recessive)" ""
"0000768175" "3" "70" "1" "94520705" "94520705" "subst" "0" "01695" "ABCA4_000714" "g.94520705T>C" "" "{PMID:Zernant 2017:28446513}" "" "c.[2549A>G;5882G>A] (p.[Tyr850Cys;Gly1961Glu])" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94055149T>C" "" "likely pathogenic (recessive)" ""
"0000768176" "3" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Zernant 2017:28446513}" "" "c.[1622T>C;3113C>T] (p.[Leu541Pro;Ala1038Val])" "" "Unknown" "yes" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000768177" "3" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Zernant 2017:28446513}" "" "c.[1622T>C;3113C>T] (p.[Leu541Pro;Ala1038Val])" "" "Unknown" "yes" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000768178" "3" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Zernant 2017:28446513}" "" "c.[1622T>C;3113C>T] (p.[Leu541Pro;Ala1038Val])" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000768179" "0" "70" "1" "94543271" "94543271" "subst" "0" "01695" "ABCA4_001507" "g.94543271A>G" "" "{PMID:Zernant 2017:28446513}" "" "c.1529T>C (p.Leu510Pro)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94077715A>G" "" "likely pathogenic (recessive)" ""
"0000768180" "1" "50" "1" "94506935" "94506935" "subst" "4.06098E-6" "01695" "ABCA4_000626" "g.94506935G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.3352C>T (p.His1118Tyr)" "" "Unknown" "yes" "" "0" "" "" "g.94041379G>A" "" "VUS" ""
"0000768181" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.4139C>T (p.Pro1380Leu)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000768182" "1" "70" "1" "94578618" "94578618" "subst" "0.000166918" "01695" "ABCA4_000252" "g.94578618C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.71G>A (p.Arg24His)" "" "Unknown" "yes" "" "0" "" "" "g.94113062C>T" "" "likely pathogenic (recessive)" ""
"0000768183" "3" "70" "1" "94546261" "94546261" "subst" "0.000648567" "01695" "ABCA4_000353" "g.94546261G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.[872C>T;1531C>T] (p.[Pro291Leu;Arg511Cys])" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94080705G>A" "" "likely pathogenic (recessive)" ""
"0000768184" "0" "90" "1" "94502760" "94502760" "subst" "4.0626E-6" "01695" "ABCA4_000599" "g.94502760C>A" "" "{PMID:Zernant 2017:28446513}" "" "c.3754G>T (p.Glu1252*)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94037204C>A" "" "pathogenic (recessive)" ""
"0000768185" "1" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Zernant 2017:28446513}" "" "c.5461-10T>C (p.?)" "" "Unknown" "yes" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000768186" "1" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.4469G>A (p.Cys1490Tyr)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94029515C>T" "" "likely pathogenic (recessive)" ""
"0000768187" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Zernant 2017:28446513}" "" "c.5461-10T>C (p.?)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000768188" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Zernant 2017:28446513}" "" "c.5461-10T>C (p.?)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000768189" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Zernant 2017:28446513}" "" "c.5461-10T>C (p.?)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000768190" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Zernant 2017:28446513}" "" "c.5461-10T>C (p.?)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000768191" "0" "90" "1" "94526186" "94526186" "del" "0" "01695" "ABCA4_000754" "g.94526186del" "" "{PMID:Zernant 2017:28446513}" "" "c.2069del (p.Gly690fs)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94060630del" "" "pathogenic (recessive)" ""
"0000768192" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Zernant 2017:28446513}" "" "c.5461-10T>C (p.?)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000768193" "1" "70" "1" "94486896" "94486896" "subst" "3.65562E-5" "01695" "ABCA4_000085" "g.94486896G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.4918C>T (p.Arg1640Trp)" "" "Unknown" "yes" "" "0" "" "" "g.94021340G>A" "" "likely pathogenic (recessive)" ""
"0000768194" "3" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Zernant 2017:28446513}" "" "c.[1622T>C;3113C>T] (p.[Leu541Pro;Ala1038Val])" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000768195" "1" "90" "1" "94564548" "94564548" "subst" "0" "01695" "ABCA4_000197" "g.94564548C>A" "" "{PMID:Zernant 2017:28446513}" "" "c.571-1G>T (p.?)" "" "Unknown" "yes" "" "0" "" "" "g.94098992C>A" "" "pathogenic (recessive)" ""
"0000768196" "1" "70" "1" "94467467" "94467467" "subst" "4.06164E-6" "01695" "ABCA4_000780" "g.94467467G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.6229C>T (p.Arg2077Trp)" "" "Unknown" "yes" "" "0" "" "" "g.94001911G>A" "" "likely pathogenic (recessive)" ""
"0000768197" "1" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.1804C>T (p.Arg602Trp)" "" "Unknown" "yes" "" "0" "" "" "g.94062710G>A" "" "pathogenic (recessive)" ""
"0000768198" "1" "90" "1" "94485137" "94485137" "subst" "0" "01695" "ABCA4_000464" "g.94485137C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.5196+1G>A (p.?)" "" "Unknown" "yes" "" "0" "" "" "g.94019581C>T" "" "pathogenic (recessive)" ""
"0000768199" "1" "90" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Zernant 2017:28446513}" "" "c.2894A>G (p.Asn965Ser)" "" "Unknown" "yes" "" "0" "" "" "g.94046943T>C" "" "pathogenic (recessive)" ""
"0000768200" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Zernant 2017:28446513}" "" "c.[1622T>C;3113C>T] (p.[Leu541Pro;Ala1038Val])" "" "Unknown" "yes" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000768201" "0" "90" "1" "94496571" "94496571" "subst" "4.06174E-6" "01695" "ABCA4_000111" "g.94496571G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.4234C>T (p.Gln1415*)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94031015G>A" "" "pathogenic (recessive)" ""
"0000768202" "0" "90" "1" "94526296" "94526296" "subst" "1.64555E-5" "01695" "ABCA4_000768" "g.94526296G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.1957C>T (p.Arg653Cys)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94060740G>A" "" "pathogenic (recessive)" ""
"0000768203" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Zernant 2017:28446513}" "" "c.5461-10T>C (p.?)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000768204" "0" "90" "1" "94466557" "94466557" "subst" "4.06154E-6" "01695" "ABCA4_000832" "g.94466557C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.6386+1G>A (p.?)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94001001C>T" "" "pathogenic (recessive)" ""
"0000768205" "0" "70" "1" "94586550" "94586550" "subst" "1.21864E-5" "01695" "ABCA4_000037" "g.94586550G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.52C>T (p.Arg18Trp)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94120994G>A" "" "likely pathogenic (recessive)" ""
"0000768206" "0" "70" "1" "94577034" "94577034" "subst" "4.06441E-6" "01695" "ABCA4_002223" "g.94577034C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.262G>A (p.Gly88Arg)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94111478C>T" "" "likely pathogenic (recessive)" ""
"0000768207" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Zernant 2017:28446513}" "" "c.2588G>C (p.Gly863Ala)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000768208" "0" "90" "1" "94508316" "94508316" "subst" "0" "01695" "ABCA4_001918" "g.94508316C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.3328+1G>A (p.?)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94042760C>T" "" "pathogenic (recessive)" ""
"0000768209" "0" "90" "1" "94496571" "94496571" "subst" "4.06174E-6" "01695" "ABCA4_000111" "g.94496571G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.4234C>T (p.Gln1415*)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94031015G>A" "" "pathogenic (recessive)" ""
"0000768210" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Zernant 2017:28446513}" "" "c.[1622T>C;3113C>T] (p.[Leu541Pro;Ala1038Val])" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000768211" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Zernant 2017:28446513}" "" "c.[1622T>C;3113C>T] (p.[Leu541Pro;Ala1038Val])" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000768212" "0" "90" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Zernant 2017:28446513}" "" "c.2894A>G (p.Asn965Ser)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94046943T>C" "" "pathogenic (recessive)" ""
"0000768213" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.4139C>T (p.Pro1380Leu)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000768214" "0" "70" "1" "94528149" "94528149" "subst" "0" "01695" "ABCA4_002068" "g.94528149A>G" "" "{PMID:Zernant 2017:28446513}" "" "c.1921T>C (p.Cys641Arg)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94062593A>G" "" "likely pathogenic (recessive)" ""
"0000768215" "0" "70" "1" "94486896" "94486896" "subst" "3.65562E-5" "01695" "ABCA4_000085" "g.94486896G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.4918C>T (p.Arg1640Trp)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94021340G>A" "" "likely pathogenic (recessive)" ""
"0000768216" "0" "90" "1" "94467530" "94467530" "subst" "0" "01695" "ABCA4_001448" "g.94467530T>A" "" "{PMID:Zernant 2017:28446513}" "" "c.6166A>T (p.Lys2056*)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94001974T>A" "" "pathogenic (recessive)" ""
"0000768217" "0" "90" "1" "94502312" "94502312" "del" "0" "01695" "ABCA4_000590" "g.94502312del" "" "{PMID:Zernant 2017:28446513}{PMID:Collison 2019:30204727}" "" "c.3846del (p.Gly1283fs)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94036756del" "" "pathogenic (recessive)" ""
"0000768218" "0" "90" "1" "94466556" "94466556" "subst" "4.06164E-6" "01695" "ABCA4_000831" "g.94466556G>C" "" "{PMID:Zernant 2017:28446513}" "" "c.6386+2C>G (p.?)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94001000G>C" "" "pathogenic (recessive)" ""
"0000768219" "0" "70" "1" "94577135" "94577135" "subst" "2.43718E-5" "01695" "ABCA4_000240" "g.94577135C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.161G>A (p.Cys54Tyr)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94111579C>T" "" "likely pathogenic (recessive)" ""
"0000768220" "0" "90" "1" "94544895" "94544895" "subst" "1.62455E-5" "01695" "ABCA4_000329" "g.94544895G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.1222C>T (p.Arg408*)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94079339G>A" "" "pathogenic (recessive)" ""
"0000768221" "0" "50" "1" "94546265" "94546265" "subst" "2.04063E-5" "01695" "ABCA4_000355" "g.94546265G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.868C>T (p.Arg290Trp)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94080709G>A" "" "VUS" ""
"0000768222" "0" "70" "1" "94463568" "94463603" "del" "0" "01695" "ABCA4_000805" "g.94463568_94463603del" "" "{PMID:Zernant 2017:28446513}" "" "c.6543_6578del (p.Leu2182_Phe2193del)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.93998012_93998047del" "" "likely pathogenic (recessive)" ""
"0000768223" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.4139C>T (p.Pro1380Leu)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000768224" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Zernant 2017:28446513}" "" "c.[1622T>C;3113C>T] (p.[Leu541Pro;Ala1038Val])" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000768225" "0" "90" "1" "94528167" "94528167" "subst" "0" "01695" "ABCA4_000268" "g.94528167G>A" "" "{PMID:Zernant 2017:28446513}{PMID:Collison 2019:30204727}" "" "c.1903C>T (p.Gln635*)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94062611G>A" "" "pathogenic (recessive)" ""
"0000768226" "0" "90" "1" "94508384" "94508384" "subst" "0" "01695" "ABCA4_000641" "g.94508384T>G" "" "{PMID:Zernant 2017:28446513}" "" "c.3261A>C (p.Glu1087Asp)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94042828T>G" "" "pathogenic (recessive)" ""
"0000768227" "0" "90" "1" "94577136" "94577136" "subst" "0" "01695" "ABCA4_000116" "g.94577136C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.161-1G>A (p.?)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94111580C>T" "" "pathogenic (recessive)" ""
"0000768228" "0" "70" "1" "94473272" "94473272" "subst" "0" "01695" "ABCA4_000390" "g.94473272C>G" "" "{PMID:Zernant 2017:28446513}" "" "c.5923G>C (p.Gly1975Arg)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94007716C>G" "" "likely pathogenic (recessive)" ""
"0000768229" "0" "90" "1" "94508386" "94508386" "subst" "1.62443E-5" "01695" "ABCA4_000642" "g.94508386C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.3259G>A (p.Glu1087Lys)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94042830C>T" "" "pathogenic (recessive)" ""
"0000768230" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Zernant 2017:28446513}" "" "c.[1622T>C;3113C>T] (p.[Leu541Pro;Ala1038Val])" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000768231" "0" "90" "1" "94586557" "94586557" "subst" "4.06134E-6" "01695" "ABCA4_000259" "g.94586557C>T" "" "{PMID:Zernant 2017:28446513}{PMID:Collison 2019:30204727}" "" "c.45G>A (p.Trp15*)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94121001C>T" "" "pathogenic (recessive)" ""
"0000768232" "0" "70" "1" "94502702" "94502702" "subst" "0" "01695" "ABCA4_000595" "g.94502702T>C" "" "{PMID:Zernant 2017:28446513}" "" "c.3812A>G (p.Glu1271Gly)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94037146T>C" "" "likely pathogenic (recessive)" ""
"0000768233" "0" "70" "1" "94467467" "94467467" "subst" "4.06164E-6" "01695" "ABCA4_000780" "g.94467467G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.6229C>T (p.Arg2077Trp)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94001911G>A" "" "likely pathogenic (recessive)" ""
"0000768234" "0" "90" "1" "94528164" "94528164" "subst" "2.03336E-5" "01695" "ABCA4_000267" "g.94528164G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.1906C>T (p.Gln636*)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94062608G>A" "" "pathogenic (recessive)" ""
"0000768235" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Zernant 2017:28446513}" "" "c.5461-10T>C (p.?)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000768236" "1" "70" "1" "94496583" "94496583" "subst" "2.03092E-5" "01695" "ABCA4_000190" "g.94496583A>G" "" "{PMID:Zernant 2017:28446513}" "" "c.[4222T>C;4918C>T] (p.[Trp1408Arg;Arg1640Trp])" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94031027A>G" "" "likely pathogenic (recessive)" ""
"0000768237" "0" "90" "1" "94577046" "94577049" "dup" "0" "01695" "ABCA4_000227" "g.94577046_94577049dup" "" "{PMID:Zernant 2017:28446513}" "" "c.247_250dup (p.Ser84fs)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94111490_94111493dup" "" "pathogenic (recessive)" ""
"0000768238" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Zernant 2017:28446513}" "" "c.[1622T>C;3113C>T] (p.[Leu541Pro;Ala1038Val])" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000768239" "0" "70" "1" "94508934" "94508934" "subst" "0" "01695" "ABCA4_000654" "g.94508934C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.3148G>A (p.Gly1050Ser)" "no variant 2nd chromosome" "Unknown" "yes" "" "0" "" "" "g.94043378C>T" "" "likely pathogenic (recessive)" ""
"0000768240" "1" "90" "1" "94564383" "94564383" "subst" "0" "01695" "ABCA4_000371" "g.94564383A>C" "" "{PMID:Zernant 2017:28446513}" "" "c.[735T>G;2300T>A] (p.[Tyr245*;Val767Asp])" "" "Unknown" "yes" "" "0" "" "" "g.94098827A>C" "" "pathogenic (recessive)" ""
"0000768241" "0" "70" "1" "94508934" "94508934" "subst" "0" "01695" "ABCA4_000654" "g.94508934C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.3148G>A (p.Gly1050Ser)" "no variant 2nd chromosome" "Unknown" "yes" "" "0" "" "" "g.94043378C>T" "" "likely pathogenic (recessive)" ""
"0000768242" "1" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.[5882G>A;6445C>T] (p.[Gly1961Glu;Arg2149*])" "" "Unknown" "yes" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000768243" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.5714+5G>A (p.?)" "no variant 2nd chromosome" "Unknown" "yes" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000768244" "0" "50" "1" "94496557" "94496557" "subst" "8.12381E-6" "01695" "ABCA4_000562" "g.94496557G>T" "" "{PMID:Zernant 2017:28446513}" "" "c.4248C>A (p.Phe1416Leu)" "no variant 2nd chromosome; no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94031001G>T" "" "VUS" ""
"0000768245" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.5714+5G>A (p.?)" "no variant 2nd chromosome; no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000768246" "0" "90" "1" "94577046" "94577049" "dup" "0" "01695" "ABCA4_000227" "g.94577046_94577049dup" "" "{PMID:Zernant 2017:28446513}" "" "c.247_250dup (p.Ser84fs)" "no variant 2nd chromosome; no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94111490_94111493dup" "" "pathogenic (recessive)" ""
"0000768247" "0" "50" "1" "94510176" "94510176" "subst" "0" "01695" "ABCA4_000106" "g.94510176A>G" "" "{PMID:Zernant 2017:28446513}" "" "c.3043T>C (p.Phe1015Leu)" "no variant 2nd chromosome; no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94044620A>G" "" "VUS" ""
"0000768248" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.5714+5G>A (p.?)" "no variant 2nd chromosome; no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000768249" "0" "90" "1" "94510248" "94510248" "subst" "0.000544123" "01695" "ABCA4_000107" "g.94510248C>G" "" "{PMID:Zernant 2017:28446513}" "" "c.2971G>C (p.Gly991Arg)" "no variant 2nd chromosome; no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94044692C>G" "" "pathogenic (recessive)" ""
"0000768250" "0" "90" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.6320G>A (p.Arg2107His)" "no variant 2nd chromosome" "Unknown" "yes" "" "0" "" "" "g.94001068C>T" "" "pathogenic (recessive)" ""
"0000768251" "0" "70" "1" "94486896" "94486896" "subst" "3.65562E-5" "01695" "ABCA4_000085" "g.94486896G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.4918C>T (p.Arg1640Trp)" "no variant 2nd chromosome; no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94021340G>A" "" "likely pathogenic (recessive)" ""
"0000768252" "0" "90" "1" "94510253" "94510253" "subst" "0.000247694" "01695" "ABCA4_000108" "g.94510253A>G" "" "{PMID:Zernant 2017:28446513}" "" "c.2966T>C (p.Val989Ala)" "no variant 2nd chromosome; no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94044697A>G" "" "pathogenic (recessive)" ""
"0000768253" "0" "70" "1" "94490567" "94490567" "subst" "5.68528E-5" "01695" "ABCA4_000026" "g.94490567G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.4577C>T (p.Thr1526Met)" "no variant 2nd chromosome" "Unknown" "yes" "" "0" "" "" "g.94025011G>A" "" "likely pathogenic (recessive)" ""
"0000768254" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.5882G>A (p.Gly1961Glu)" "no variant 2nd chromosome" "Unknown" "yes" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000768255" "0" "50" "1" "94564385" "94564385" "subst" "1.21833E-5" "01695" "ABCA4_001244" "g.94564385A>G" "" "{PMID:Zernant 2017:28446513}" "" "c.733T>C (p.Tyr245His)" "no variant 2nd chromosome" "Unknown" "yes" "" "0" "" "" "g.94098829A>G" "" "VUS" ""
"0000768256" "0" "70" "1" "94487251" "94487251" "subst" "2.85679E-5" "01695" "ABCA4_000490" "g.94487251G>T" "" "{PMID:Zernant 2017:28446513}" "" "c.4793C>A (p.Ala1598Asp)" "no variant 2nd chromosome" "Unknown" "yes" "" "0" "" "" "g.94021695G>T" "" "likely pathogenic (recessive)" ""
"0000768257" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.5882G>A (p.Gly1961Glu)" "no variant 2nd chromosome" "Unknown" "yes" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000768258" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.3322C>T (p.Arg1108Cys)" "no variant 2nd chromosome" "Unknown" "yes" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000768259" "0" "50" "1" "94474381" "94474381" "subst" "1.21849E-5" "01695" "ABCA4_000410" "g.94474381C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.5761G>A (p.Val1921Met)" "no variant 2nd chromosome" "Unknown" "yes" "" "0" "" "" "g.94008825C>T" "" "VUS" ""
"0000768260" "0" "90" "1" "94508353" "94508353" "subst" "2.8431E-5" "01695" "ABCA4_000141" "g.94508353G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.3292C>T (p.Arg1098Cys)" "no variant 2nd chromosome" "Unknown" "yes" "" "0" "" "" "g.94042797G>A" "" "pathogenic (recessive)" ""
"0000768261" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.5882G>A (p.Gly1961Glu)" "no variant 2nd chromosome" "Unknown" "yes" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000768262" "0" "50" "1" "94495191" "94495191" "subst" "0.000428195" "01695" "ABCA4_000910" "g.94495191A>G" "" "{PMID:Zernant 2017:28446513}" "" "c.4353-4T>C (p.?)" "no variant 2nd chromosome; no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94029635A>G" "" "VUS" ""
"0000768263" "0" "90" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.634C>T (p.Arg212Cys)" "no variant 2nd chromosome; no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94098928G>A" "" "pathogenic (recessive)" ""
"0000768264" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.5882G>A (p.Gly1961Glu)" "no variant 2nd chromosome; no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000768265" "0" "70" "1" "94471055" "94471055" "subst" "0.00035346" "01695" "ABCA4_000029" "g.94471055C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.6089G>A (p.Arg2030Gln)" "no variant 2nd chromosome; no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94005499C>T" "" "likely pathogenic (recessive)" ""
"0000768266" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.5882G>A (p.Gly1961Glu)" "no variant 2nd chromosome; no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000768267" "0" "90" "1" "94517226" "94517226" "del" "0" "01695" "ABCA4_002003" "g.94517226del" "" "{PMID:Zernant 2017:28446513}" "" "c.2616del (p.Leu274fs)" "no variant 2nd chromosome; no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94051670del" "" "pathogenic (recessive)" ""
"0000768268" "0" "70" "1" "94577135" "94577135" "subst" "2.43718E-5" "01695" "ABCA4_000240" "g.94577135C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.161G>A (p.Cys54Tyr)" "no variant 2nd chromosome; no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94111579C>T" "" "likely pathogenic (recessive)" ""
"0000768269" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.3113C>T(p.Ala1038Val)" "no variant 2nd chromosome; no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000768270" "0" "90" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.6320G>A (p.Arg2107His)" "no variant 2nd chromosome; no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94001068C>T" "" "pathogenic (recessive)" ""
"0000768271" "0" "90" "1" "94481294" "94481294" "subst" "0" "01695" "ABCA4_000110" "g.94481294C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.5312+1G>A (p.?)" "no variant 2nd chromosome; no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94015738C>T" "" "pathogenic (recessive)" ""
"0000768272" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.3113C>T(p.Ala1038Val)" "no variant 2nd chromosome; no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000768273" "0" "90" "1" "94510253" "94510253" "subst" "0.000247694" "01695" "ABCA4_000108" "g.94510253A>G" "" "{PMID:Zernant 2017:28446513}" "" "c.2966T>C (p.Val989Ala)" "no variant 2nd chromosome; no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94044697A>G" "" "pathogenic (recessive)" ""
"0000768274" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Zernant 2017:28446513}" "" "c.[1622T>C;3113C>T] (p.[Leu541Pro;Ala1038Val])" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000768275" "0" "70" "1" "94467467" "94467467" "subst" "4.06164E-6" "01695" "ABCA4_000780" "g.94467467G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.6229C>T (p.Arg2077Trp)" "no variant 2nd chromosome; no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94001911G>A" "" "likely pathogenic (recessive)" ""
"0000768276" "0" "90" "1" "94526212" "94526212" "subst" "1.22012E-5" "01695" "ABCA4_000075" "g.94526212G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.2041C>T (p.Arg681*)" "no variant 2nd chromosome; no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94060656G>A" "" "pathogenic (recessive)" ""
"0000768277" "0" "90" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.6320G>A (p.Arg2107His)" "no variant 2nd chromosome; no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94001068C>T" "" "pathogenic (recessive)" ""
"0000768278" "0" "70" "1" "94473808" "94473808" "subst" "8.52861E-5" "01695" "ABCA4_000196" "g.94473808C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.5881G>A (p.Gly1961Arg)" "no variant 2nd chromosome; no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94008252C>T" "" "likely pathogenic (recessive)" ""
"0000768279" "0" "70" "1" "94463452" "94463452" "subst" "9.34412E-5" "01695" "ABCA4_000870" "g.94463452C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.6694G>A (p.Glu2232Lys)" "no variant 2nd chromosome; no segregation analysis done" "Unknown" "" "" "0" "" "" "g.93997896C>T" "" "likely pathogenic (recessive)" ""
"0000768280" "0" "90" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.634C>T (p.Arg212Cys)" "no variant 2nd chromosome; no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94098928G>A" "" "pathogenic (recessive)" ""
"0000768281" "0" "70" "1" "94546099" "94546099" "subst" "0" "01695" "ABCA4_001389" "g.94546099T>C" "" "{PMID:Zernant 2017:28446513}" "" "c.1034A>G (p.Tyr345Cys)" "no variant 2nd chromosome; no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94080543T>C" "" "likely pathogenic (recessive)" ""
"0000768282" "0" "90" "1" "94471056" "94471056" "subst" "2.84398E-5" "01695" "ABCA4_000050" "g.94471056G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.6088C>T (p.Arg2030*)" "no variant 2nd chromosome; no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94005500G>A" "" "pathogenic (recessive)" ""
"0000768283" "0" "50" "1" "94528729" "94528729" "subst" "0.000255885" "01695" "ABCA4_000297" "g.94528729C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.1699G>A (p.Val567Met)" "no variant 2nd chromosome; no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94063173C>T" "" "VUS" ""
"0000768284" "0" "50" "1" "94577112" "94577112" "subst" "4.06164E-6" "01695" "ABCA4_000051" "g.94577112G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.184C>T (p.Pro62Ser)" "no variant 2nd chromosome; no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94111556G>A" "" "VUS" ""
"0000768285" "1" "50" "1" "94502756" "94502756" "subst" "0.000422575" "01695" "ABCA4_000032" "g.94502756G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.[3758C>T;5882G>A] (p.[Thr1253Met;Gly1961Glu])" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94037200G>A" "" "VUS" ""
"0000768286" "0" "70" "1" "94490567" "94490567" "subst" "5.68528E-5" "01695" "ABCA4_000026" "g.94490567G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.4577C>T (p.Thr1526Met)" "no variant 2nd chromosome; no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94025011G>A" "" "likely pathogenic (recessive)" ""
"0000768287" "0" "90" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.6320G>A (p.Arg2107His)" "no variant 2nd chromosome; no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94001068C>T" "" "pathogenic (recessive)" ""
"0000768288" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.4139C>T (p.Pro1380Leu)" "no variant 2nd chromosome; no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000768289" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Stone 2017:28559085}" "" "c.3113C>T Ala1038Val GCC>GTC" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000768290" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Stone 2017:28559085}" "" "c.3113C>T Ala1038Val GCC>GTC" "" "Unknown" "yes" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000768291" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Stone 2017:28559085}" "" "c.3113C>T Ala1038Val GCC>GTC" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000768292" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Stone 2017:28559085}" "" "c.3113C>T Ala1038Val GCC>GTC" "" "Unknown" "yes" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000768293" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Stone 2017:28559085}" "" "c.3113C>T Ala1038Val GCC>GTC" "" "Unknown" "yes" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000768294" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Stone 2017:28559085}" "" "c.3113C>T Ala1038Val GCC>GTC" "" "Unknown" "yes" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000768295" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Stone 2017:28559085}" "" "c.3113C>T Ala1038Val GCC>GTC" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000768296" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Stone 2017:28559085}" "" "c.3113C>T Ala1038Val GCC>GTC" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000768297" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Stone 2017:28559085}" "" "c.3113C>T Ala1038Val GCC>GTC" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000768298" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Stone 2017:28559085}" "" "c.3113C>T / c.2560G>A Ala1038Val GCC>GTC / Ala854Thr GCT>ACT" "" "Unknown" "yes" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000768299" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Stone 2017:28559085}" "" "c.3113C>T / c.2560G>A Ala1038Val GCC>GTC / Ala854Thr GCT>ACT" "" "Unknown" "yes" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000768300" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Stone 2017:28559085}" "" "c.3113C>T / c.1622T>C Ala1038Val GCC>GTC / Leu541Pro CTA>CCA" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000768301" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Stone 2017:28559085}" "" "c.3113C>T / c.1622T>C Ala1038Val GCC>GTC / Leu541Pro CTA>CCA" "" "Unknown" "yes" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000768302" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Stone 2017:28559085}" "" "c.3113C>T / c.1622T>C Ala1038Val GCC>GTC / Leu541Pro CTA>CCA" "" "Unknown" "yes" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000768303" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Stone 2017:28559085}" "" "c.3113C>T / c.1622T>C Ala1038Val GCC>GTC / Leu541Pro CTA>CCA" "" "Unknown" "yes" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000768304" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Stone 2017:28559085}" "" "c.3113C>T / c.1622T>C Ala1038Val GCC>GTC / Leu541Pro CTA>CCA" "" "Unknown" "yes" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000768305" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Stone 2017:28559085}" "" "c.3113C>T / c.1622T>C Ala1038Val GCC>GTC / Leu541Pro CTA>CCA" "" "Unknown" "yes" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000768306" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Stone 2017:28559085}" "" "c.3113C>T / c.1622T>C Ala1038Val GCC>GTC / Leu541Pro CTA>CCA" "" "Unknown" "yes" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000768307" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Stone 2017:28559085}" "" "c.3113C>T / c.1622T>C Ala1038Val GCC>GTC / Leu541Pro CTA>CCA" "" "Unknown" "yes" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000768308" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Stone 2017:28559085}" "" "c.3113C>T / c.1622T>C Ala1038Val GCC>GTC / Leu541Pro CTA>CCA" "" "Unknown" "yes" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000768309" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Stone 2017:28559085}" "" "c.3113C>T / c.1622T>C Ala1038Val GCC>GTC / Leu541Pro CTA>CCA" "" "Unknown" "yes" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000768310" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Stone 2017:28559085}" "" "c.3113C>T / c.1622T>C Ala1038Val GCC>GTC / Leu541Pro CTA>CCA" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000768311" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Stone 2017:28559085}" "" "c.3113C>T / c.1622T>C Ala1038Val GCC>GTC / Leu541Pro CTA>CCA" "no variant 2nd chromosome; no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000768312" "1" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Stone 2017:28559085}" "" "c.5461-10T>C IVS38-10 T>C" "" "Unknown" "yes" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000768313" "1" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Stone 2017:28559085}" "" "c.5461-10T>C IVS38-10 T>C" "" "Unknown" "yes" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000768314" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Stone 2017:28559085}" "" "c.5461-10T>C IVS38-10 T>C" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000768315" "1" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Stone 2017:28559085}" "" "c.5461-10T>C IVS38-10 T>C" "" "Unknown" "yes" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000768316" "1" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Stone 2017:28559085}" "" "c.5461-10T>C IVS38-10 T>C" "" "Unknown" "yes" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000768317" "1" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Stone 2017:28559085}" "" "c.5461-10T>C IVS38-10 T>C" "" "Unknown" "yes" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000768318" "1" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Stone 2017:28559085}" "" "c.5461-10T>C IVS38-10 T>C" "" "Unknown" "yes" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000768319" "1" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Stone 2017:28559085}" "" "c.5461-10T>C IVS38-10 T>C" "" "Unknown" "yes" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000768320" "1" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Stone 2017:28559085}" "" "c.5461-10T>C IVS38-10 T>C" "" "Unknown" "yes" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000768321" "1" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Stone 2017:28559085}" "" "c.5461-10T>C IVS38-10 T>C" "" "Unknown" "yes" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000768322" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Stone 2017:28559085}" "" "c.5461-10T>C IVS38-10 T>C" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000768323" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Stone 2017:28559085}" "" "c.5461-10T>C IVS38-10 T>C" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000768324" "1" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Stone 2017:28559085}" "" "c.5461-10T>C IVS38-10 T>C" "" "Unknown" "yes" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000768325" "1" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Stone 2017:28559085}" "" "c.5461-10T>C IVS38-10 T>C" "" "Unknown" "yes" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000768326" "1" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Stone 2017:28559085}" "" "c.5461-10T>C IVS38-10 T>C" "" "Unknown" "yes" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000768327" "1" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Stone 2017:28559085}" "" "c.5461-10T>C IVS38-10 T>C" "" "Unknown" "yes" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000768328" "1" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Stone 2017:28559085}" "" "c.5461-10T>C IVS38-10 T>C" "" "Unknown" "yes" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000768329" "1" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Stone 2017:28559085}" "" "c.5461-10T>C IVS38-10 T>C" "" "Unknown" "yes" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000768330" "1" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Stone 2017:28559085}" "" "c.5461-10T>C IVS38-10 T>C" "" "Unknown" "yes" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000768331" "1" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Stone 2017:28559085}" "" "c.5461-10T>C IVS38-10 T>C" "" "Unknown" "yes" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000768332" "3" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Stone 2017:28559085}" "" "c.5461-10T>C IVS38-10 T>C" "" "Unknown" "yes" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000768333" "1" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Stone 2017:28559085}" "" "c.5461-10T>C IVS38-10 T>C" "" "Unknown" "yes" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000768334" "1" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Stone 2017:28559085}" "" "c.5461-10T>C IVS38-10 T>C" "" "Unknown" "yes" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000768335" "1" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Stone 2017:28559085}" "" "c.5461-10T>C IVS38-10 T>C" "no variant 2nd chromosome" "Unknown" "yes" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000768336" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Stone 2017:28559085}" "" "c.5882G>A Gly1961Glu GGA>GAA" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000768337" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Stone 2017:28559085}" "" "c.5882G>A Gly1961Glu GGA>GAA" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000768338" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Stone 2017:28559085}" "" "c.5882G>A Gly1961Glu GGA>GAA" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000768339" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Stone 2017:28559085}" "" "c.5882G>A Gly1961Glu GGA>GAA" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000768340" "1" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Stone 2017:28559085}" "" "c.5882G>A Gly1961Glu GGA>GAA" "" "Unknown" "yes" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000768341" "1" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Stone 2017:28559085}" "" "c.5882G>A Gly1961Glu GGA>GAA" "" "Unknown" "yes" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000768342" "1" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Stone 2017:28559085}" "" "c.5882G>A Gly1961Glu GGA>GAA" "" "Unknown" "yes" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000768343" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Stone 2017:28559085}" "" "c.5882G>A Gly1961Glu GGA>GAA" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000768344" "1" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Stone 2017:28559085}" "" "c.5882G>A Gly1961Glu GGA>GAA" "" "Unknown" "yes" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000768345" "1" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Stone 2017:28559085}" "" "c.5882G>A Gly1961Glu GGA>GAA" "" "Unknown" "yes" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000768346" "1" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Stone 2017:28559085}" "" "c.5882G>A Gly1961Glu GGA>GAA" "" "Unknown" "yes" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000768347" "1" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Stone 2017:28559085}" "" "c.5882G>A Gly1961Glu GGA>GAA" "" "Unknown" "yes" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000768348" "1" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Stone 2017:28559085}" "" "c.5882G>A Gly1961Glu GGA>GAA" "" "Unknown" "yes" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000768349" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Stone 2017:28559085}" "" "c.5882G>A Gly1961Glu GGA>GAA" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000768350" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Stone 2017:28559085}" "" "c.5882G>A Gly1961Glu GGA>GAA" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000768351" "1" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Stone 2017:28559085}" "" "c.5882G>A Gly1961Glu GGA>GAA" "" "Unknown" "yes" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000768352" "3" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Stone 2017:28559085}" "" "c.5882G>A / c.634C>T Gly1961Glu GGA>GAA / Arg212Cys CGC>TGC" "" "Unknown" "yes" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000768353" "1" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Stone 2017:28559085}" "" "c.5882G>A / c.2042G>A Gly1961Glu GGA>GAA / Arg681Gln CGA>CAA" "" "Unknown" "yes" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000768354" "1" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Stone 2017:28559085}" "" "c.5882G>A / c.3799A>G Gly1961Glu GGA>GAA / Thr1267Ala ACT>GCT" "" "Unknown" "yes" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000768355" "1" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Stone 2017:28559085}" "" "c.2588G>C Gly863Ala (G)GA>(G)CA" "" "Unknown" "yes" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000768356" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Stone 2017:28559085}" "" "c.2588G>C Gly863Ala (G)GA>(G)CA" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000768357" "1" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Stone 2017:28559085}" "" "c.2588G>C Gly863Ala (G)GA>(G)CA" "" "Unknown" "yes" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000768358" "1" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Stone 2017:28559085}" "" "c.2588G>C Gly863Ala (G)GA>(G)CA" "" "Unknown" "yes" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000768359" "1" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Stone 2017:28559085}" "" "c.2588G>C Gly863Ala (G)GA>(G)CA" "" "Unknown" "yes" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000768360" "1" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Stone 2017:28559085}" "" "c.2588G>C Gly863Ala (G)GA>(G)CA" "" "Unknown" "yes" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000768361" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Stone 2017:28559085}" "" "c.2588G>C Gly863Ala (G)GA>(G)CA" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000768362" "1" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Stone 2017:28559085}" "" "c.2588G>C Gly863Ala (G)GA>(G)CA" "" "Unknown" "yes" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000768363" "1" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Stone 2017:28559085}" "" "c.2588G>C Gly863Ala (G)GA>(G)CA" "" "Unknown" "yes" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000768364" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Stone 2017:28559085}" "" "c.2588G>C Gly863Ala (G)GA>(G)CA" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000768365" "1" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Stone 2017:28559085}" "" "c.2588G>C Gly863Ala (G)GA>(G)CA" "" "Unknown" "yes" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000768366" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Stone 2017:28559085}" "" "c.2588G>C Gly863Ala (G)GA>(G)CA" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000768367" "1" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Stone 2017:28559085}" "" "c.2588G>C Gly863Ala (G)GA>(G)CA" "" "Unknown" "yes" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000768368" "1" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Stone 2017:28559085}" "" "c.2588G>C Gly863Ala (G)GA>(G)CA" "" "Unknown" "yes" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000768369" "1" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Stone 2017:28559085}" "" "c.2588G>C Gly863Ala (G)GA>(G)CA" "" "Unknown" "yes" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000768370" "1" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Stone 2017:28559085}" "" "c.2588G>C / c.1715G>A Gly863Ala (G)GA>(G)CA / Arg572Gln CGA>CAA" "" "Unknown" "yes" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000768371" "1" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Stone 2017:28559085}" "" "c.4139C>T Pro1380Leu CCG>CTG" "" "Unknown" "yes" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000768372" "1" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Stone 2017:28559085}" "" "c.4139C>T Pro1380Leu CCG>CTG" "" "Unknown" "yes" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000768373" "1" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Stone 2017:28559085}" "" "c.4139C>T Pro1380Leu CCG>CTG" "" "Unknown" "yes" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000768374" "1" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Stone 2017:28559085}" "" "c.4139C>T Pro1380Leu CCG>CTG" "" "Unknown" "yes" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000768375" "1" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Stone 2017:28559085}" "" "c.4139C>T Pro1380Leu CCG>CTG" "" "Unknown" "yes" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000768376" "1" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Stone 2017:28559085}" "" "c.4139C>T Pro1380Leu CCG>CTG" "" "Unknown" "yes" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000768377" "1" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Stone 2017:28559085}" "" "c.4139C>T Pro1380Leu CCG>CTG" "" "Unknown" "yes" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000768378" "1" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Stone 2017:28559085}" "" "c.4139C>T Pro1380Leu CCG>CTG" "" "Unknown" "yes" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000768379" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Stone 2017:28559085}" "" "c.4139C>T Pro1380Leu CCG>CTG" "no variant 2nd chromosome; no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000768380" "1" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Stone 2017:28559085}" "" "c.5714+5G>A IVS40+5 G>A" "" "Unknown" "yes" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000768381" "1" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Stone 2017:28559085}" "" "c.5714+5G>A IVS40+5 G>A" "" "Unknown" "yes" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000768382" "1" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Stone 2017:28559085}" "" "c.5714+5G>A IVS40+5 G>A" "" "Unknown" "yes" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000768383" "1" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Stone 2017:28559085}" "" "c.5714+5G>A IVS40+5 G>A" "" "Unknown" "yes" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000768384" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Stone 2017:28559085}" "" "c.5714+5G>A IVS40+5 G>A" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000768385" "1" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Stone 2017:28559085}" "" "c.5714+5G>A IVS40+5 G>A" "" "Unknown" "yes" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000768386" "1" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Stone 2017:28559085}" "" "c.5714+5G>A IVS40+5 G>A" "" "Unknown" "yes" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000768387" "1" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Stone 2017:28559085}" "" "c.768G>T Val256Val GTG>GTT" "" "Unknown" "yes" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000768388" "1" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Stone 2017:28559085}" "" "c.768G>T Val256Val GTG>GTT" "" "Unknown" "yes" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000768389" "1" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Stone 2017:28559085}" "" "c.768G>T Val256Val GTG>GTT" "" "Unknown" "yes" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000768390" "1" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Stone 2017:28559085}" "" "c.768G>T Val256Val GTG>GTT" "" "Unknown" "yes" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000768391" "1" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Stone 2017:28559085}" "" "c.768G>T Val256Val GTG>GTT" "" "Unknown" "yes" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000768392" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Stone 2017:28559085}" "" "c.768G>T Val256Val GTG>GTT" "no variant 2nd chromosome; no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000768393" "1" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Stone 2017:28559085}" "" "c.6079C>T Leu2027Phe CTC>TTC" "" "Unknown" "yes" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic (recessive)" ""
"0000768394" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Stone 2017:28559085}" "" "c.6079C>T Leu2027Phe CTC>TTC" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic (recessive)" ""
"0000768395" "1" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Stone 2017:28559085}" "" "c.6079C>T Leu2027Phe CTC>TTC" "" "Unknown" "yes" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic (recessive)" ""
"0000768396" "1" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Stone 2017:28559085}" "" "c.6079C>T Leu2027Phe CTC>TTC" "" "Unknown" "yes" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic (recessive)" ""
"0000768397" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Stone 2017:28559085}" "" "c.3322C>T Arg1108Cys CGC>TGC" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000768398" "1" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Stone 2017:28559085}" "" "c.3322C>T Arg1108Cys CGC>TGC" "" "Unknown" "yes" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000768399" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Stone 2017:28559085}" "" "c.3322C>T Arg1108Cys CGC>TGC" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000768400" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Stone 2017:28559085}" "" "c.3322C>T Arg1108Cys CGC>TGC" "no variant 2nd chromosome; no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000768401" "1" "90" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Stone 2017:28559085}" "" "c.2894A>G Asn965Ser AAT>AGT" "" "Unknown" "yes" "" "0" "" "" "g.94046943T>C" "" "pathogenic (recessive)" ""
"0000768402" "0" "90" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Stone 2017:28559085}" "" "c.2894A>G Asn965Ser AAT>AGT" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94046943T>C" "" "pathogenic (recessive)" ""
"0000768403" "1" "90" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Stone 2017:28559085}" "" "c.2894A>G Asn965Ser AAT>AGT" "" "Unknown" "yes" "" "0" "" "" "g.94046943T>C" "" "pathogenic (recessive)" ""
"0000768404" "1" "90" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Stone 2017:28559085}" "" "c.2894A>G Asn965Ser AAT>AGT" "" "Unknown" "yes" "" "0" "" "" "g.94046943T>C" "" "pathogenic (recessive)" ""
"0000768405" "1" "90" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Stone 2017:28559085}" "" "c.2894A>G Asn965Ser AAT>AGT" "" "Unknown" "yes" "" "0" "" "" "g.94046943T>C" "" "pathogenic (recessive)" ""
"0000768406" "1" "50" "1" "94493680" "94493680" "subst" "0" "01695" "ABCA4_001459" "g.94493680T>C" "" "{PMID:Stone 2017:28559085}" "" "c.4539+1321A>G IVS30+1321 A>G" "" "Unknown" "yes" "" "0" "" "" "g.94028124T>C" "" "VUS" ""
"0000768407" "0" "90" "1" "94526212" "94526212" "subst" "1.22012E-5" "01695" "ABCA4_000075" "g.94526212G>A" "" "{PMID:Stone 2017:28559085}" "" "c.2041C>T Arg681Stop CGA>TGA" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94060656G>A" "" "pathogenic (recessive)" ""
"0000768408" "0" "90" "1" "94526212" "94526212" "subst" "1.22012E-5" "01695" "ABCA4_000075" "g.94526212G>A" "" "{PMID:Stone 2017:28559085}" "" "c.2041C>T Arg681Stop CGA>TGA" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94060656G>A" "" "pathogenic (recessive)" ""
"0000768409" "1" "90" "1" "94526212" "94526212" "subst" "1.22012E-5" "01695" "ABCA4_000075" "g.94526212G>A" "" "{PMID:Stone 2017:28559085}" "" "c.2041C>T Arg681Stop CGA>TGA" "" "Unknown" "yes" "" "0" "" "" "g.94060656G>A" "" "pathogenic (recessive)" ""
"0000768410" "1" "90" "1" "94526212" "94526212" "subst" "1.22012E-5" "01695" "ABCA4_000075" "g.94526212G>A" "" "{PMID:Stone 2017:28559085}" "" "c.2041C>T Arg681Stop CGA>TGA" "no variant 2nd chromosome" "Unknown" "yes" "" "0" "" "" "g.94060656G>A" "" "pathogenic (recessive)" ""
"0000768411" "1" "70" "1" "94486896" "94486896" "subst" "3.65562E-5" "01695" "ABCA4_000085" "g.94486896G>A" "" "{PMID:Stone 2017:28559085}" "" "c.4918C>T Arg1640Trp CGG>TGG" "" "Unknown" "yes" "" "0" "" "" "g.94021340G>A" "" "likely pathogenic (recessive)" ""
"0000768412" "1" "70" "1" "94486896" "94486896" "subst" "3.65562E-5" "01695" "ABCA4_000085" "g.94486896G>A" "" "{PMID:Stone 2017:28559085}" "" "c.4918C>T Arg1640Trp CGG>TGG" "no variant 2nd chromosome" "Unknown" "yes" "" "0" "" "" "g.94021340G>A" "" "likely pathogenic (recessive)" ""
"0000768413" "1" "70" "1" "94484001" "94484001" "subst" "0" "01695" "ABCA4_000016" "g.94484001C>T" "" "{PMID:Stone 2017:28559085}" "" "c.5196+1137G>A IVS36+1137 G>A" "" "Unknown" "yes" "" "0" "" "" "g.94018445C>T" "" "likely pathogenic (recessive)" ""
"0000768414" "1" "70" "1" "94484001" "94484001" "subst" "0" "01695" "ABCA4_000016" "g.94484001C>T" "" "{PMID:Stone 2017:28559085}" "" "c.5196+1137G>A IVS36+1137 G>A" "" "Unknown" "yes" "" "0" "" "" "g.94018445C>T" "" "likely pathogenic (recessive)" ""
"0000768415" "1" "70" "1" "94484001" "94484001" "subst" "0" "01695" "ABCA4_000016" "g.94484001C>T" "" "{PMID:Stone 2017:28559085}" "" "c.5196+1137G>A IVS36+1137 G>A" "" "Unknown" "yes" "" "0" "" "" "g.94018445C>T" "" "likely pathogenic (recessive)" ""
"0000768416" "0" "70" "1" "94522239" "94522239" "subst" "2.03305E-5" "01695" "ABCA4_000736" "g.94522239A>T" "" "{PMID:Stone 2017:28559085}" "" "c.2300T>A Val767Asp GTC>GAC" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94056683A>T" "" "likely pathogenic (recessive)" ""
"0000768417" "0" "70" "1" "94522239" "94522239" "subst" "2.03305E-5" "01695" "ABCA4_000736" "g.94522239A>T" "" "{PMID:Stone 2017:28559085}" "" "c.2300T>A Val767Asp GTC>GAC" "no variant 2nd chromosome; no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94056683A>T" "" "likely pathogenic (recessive)" ""
"0000768418" "1" "70" "1" "94522239" "94522239" "subst" "2.03305E-5" "01695" "ABCA4_000736" "g.94522239A>T" "" "{PMID:Stone 2017:28559085}" "" "c.2300T>A Val767Asp GTC>GAC" "no variant 2nd chromosome" "Unknown" "yes" "" "0" "" "" "g.94056683A>T" "" "likely pathogenic (recessive)" ""
"0000768419" "1" "50" "1" "94476377" "94476377" "subst" "0.00160473" "01695" "ABCA4_000411" "g.94476377C>T" "" "{PMID:Stone 2017:28559085}" "" "c.5693G>A Arg1898His CGC>CAC" "" "Unknown" "yes" "" "0" "" "" "g.94010821C>T" "" "VUS" ""
"0000768420" "0" "50" "1" "94476377" "94476377" "subst" "0.00160473" "01695" "ABCA4_000411" "g.94476377C>T" "" "{PMID:Stone 2017:28559085}" "" "c.5693G>A Arg1898His CGC>CAC" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010821C>T" "" "VUS" ""
"0000768421" "1" "70" "1" "94471055" "94471055" "subst" "0.00035346" "01695" "ABCA4_000029" "g.94471055C>T" "" "{PMID:Stone 2017:28559085}" "" "c.6089G>A Arg2030Gln CGA>CAA" "" "Unknown" "yes" "" "0" "" "" "g.94005499C>T" "" "likely pathogenic (recessive)" ""
"0000768422" "1" "70" "1" "94471055" "94471055" "subst" "0.00035346" "01695" "ABCA4_000029" "g.94471055C>T" "" "{PMID:Stone 2017:28559085}" "" "c.6089G>A Arg2030Gln CGA>CAA" "" "Unknown" "yes" "" "0" "" "" "g.94005499C>T" "" "likely pathogenic (recessive)" ""
"0000768423" "1" "90" "1" "94481294" "94481294" "subst" "0" "01695" "ABCA4_000110" "g.94481294C>T" "" "{PMID:Stone 2017:28559085}" "" "c.5312+1G>A IVS37+1 G>A" "" "Unknown" "yes" "" "0" "" "" "g.94015738C>T" "" "pathogenic (recessive)" ""
"0000768424" "1" "90" "1" "94481294" "94481294" "subst" "0" "01695" "ABCA4_000110" "g.94481294C>T" "" "{PMID:Stone 2017:28559085}" "" "c.5312+1G>A IVS37+1 G>A" "no variant 2nd chromosome" "Unknown" "yes" "" "0" "" "" "g.94015738C>T" "" "pathogenic (recessive)" ""
"0000768425" "0" "70" "1" "94546118" "94546118" "subst" "8.13326E-6" "01695" "ABCA4_000082" "g.94546118A>C" "" "{PMID:Stone 2017:28559085}" "" "c.1015T>G Trp339Gly TGG>GGG" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94080562A>C" "" "likely pathogenic (recessive)" ""
"0000768426" "1" "70" "1" "94546118" "94546118" "subst" "8.13326E-6" "01695" "ABCA4_000082" "g.94546118A>C" "" "{PMID:Stone 2017:28559085}" "" "c.1015T>G Trp339Gly TGG>GGG" "" "Unknown" "yes" "" "0" "" "" "g.94080562A>C" "" "likely pathogenic (recessive)" ""
"0000768427" "0" "70" "1" "94497338" "94497338" "subst" "4.09836E-6" "01695" "ABCA4_001462" "g.94497338G>T" "" "{PMID:Stone 2017:28559085}" "" "c.4124C>A Ala1375Glu GCG>GAG" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94031782G>T" "" "likely pathogenic (recessive)" ""
"0000768428" "1" "70" "1" "94577117" "94577117" "subst" "1.62472E-5" "01695" "ABCA4_000237" "g.94577117G>A" "" "{PMID:Stone 2017:28559085}" "" "c.179C>T Ala60Val GCC>GTC" "" "Unknown" "yes" "" "0" "" "" "g.94111561G>A" "" "likely pathogenic (recessive)" ""
"0000768429" "2" "90" "1" "94508353" "94508353" "subst" "2.8431E-5" "01695" "ABCA4_000141" "g.94508353G>A" "" "{PMID:Stone 2017:28559085}" "" "c.3292C>T Arg1098Cys CGC>TGC" "" "Unknown" "yes" "" "0" "" "" "g.94042797G>A" "" "pathogenic (recessive)" ""
"0000768430" "1" "50" "1" "94480100" "94480100" "subst" "8.1217E-6" "01695" "ABCA4_000438" "g.94480100C>G" "" "{PMID:Stone 2017:28559085}" "" "c.5459G>C Arg1820Pro CGG>CCG" "" "Unknown" "yes" "" "0" "" "" "g.94014544C>G" "" "VUS" ""
"0000768431" "1" "70" "1" "94471055" "94471055" "subst" "0.00035346" "01695" "ABCA4_000029" "g.94471055C>T" "" "{PMID:Stone 2017:28559085}" "" "c.6089G>A Arg2030Gln CGA>CAA" "" "Unknown" "yes" "" "0" "" "" "g.94005499C>T" "" "likely pathogenic (recessive)" ""
"0000768432" "1" "90" "1" "94526296" "94526296" "subst" "1.64555E-5" "01695" "ABCA4_000768" "g.94526296G>A" "" "{PMID:Stone 2017:28559085}" "" "c.1957C>T Arg653Cys CGC>TGC" "" "Unknown" "yes" "" "0" "" "" "g.94060740G>A" "" "pathogenic (recessive)" ""
"0000768433" "0" "90" "1" "94466638" "94466638" "del" "0" "01695" "ABCA4_001447" "g.94466638del" "" "{PMID:Stone 2017:28559085}" "" "c.6306delC Asp2102 del1gaC" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94001082del" "" "pathogenic (recessive)" ""
"0000768434" "1" "70" "1" "94463568" "94463603" "del" "0" "01695" "ABCA4_000805" "g.94463568_94463603del" "" "{PMID:Stone 2017:28559085}" "" "c.6543_6578delCCTGAACCCTGTGGAGCAGTTCTTCCAGGGGAACTT Asp2181 del36gaCCTGAACCCTGTGGAGCAGTTCTTCCAGGGGAACTT" "" "Unknown" "yes" "" "0" "" "" "g.93998012_93998047del" "" "likely pathogenic (recessive)" ""
"0000768435" "1" "50" "1" "94528137" "94528137" "subst" "2.03363E-5" "01695" "ABCA4_000774" "g.94528137C>T" "" "{PMID:Stone 2017:28559085}" "" "c.1933G>A Asp645Asn GAT>AAT" "" "Unknown" "yes" "" "0" "" "" "g.94062581C>T" "" "VUS" ""
"0000768436" "1" "70" "1" "94495002" "94495002" "subst" "0" "01695" "ABCA4_000533" "g.94495002T>C" "" "{PMID:Stone 2017:28559085}" "" "c.4538A>G Gln1513Arg CAG>CGG" "" "Unknown" "yes" "" "0" "" "" "g.94029446T>C" "" "likely pathogenic (recessive)" ""
"0000768437" "3" "90" "1" "94508386" "94508386" "subst" "1.62443E-5" "01695" "ABCA4_000642" "g.94508386C>T" "" "{PMID:Stone 2017:28559085}" "" "c.3259G>A Glu1087Lys GAA>AAA" "" "Unknown" "yes" "" "0" "" "" "g.94042830C>T" "" "pathogenic (recessive)" ""
"0000768438" "1" "70" "1" "94487499" "94487499" "subst" "0" "01695" "ABCA4_001456" "g.94487499C>T" "" "{PMID:Stone 2017:28559085}" "" "c.4676G>A Gly1559Glu GGA>GAA" "" "Unknown" "yes" "" "0" "" "" "g.94021943C>T" "" "likely pathogenic (recessive)" ""
"0000768439" "0" "90" "1" "94520872" "94520872" "subst" "0" "01695" "ABCA4_001468" "g.94520872C>T" "" "{PMID:Stone 2017:28559085}" "" "c.2383-1G>A IVS15-1 G>A" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94055316C>T" "" "pathogenic (recessive)" ""
"0000768440" "1" "70" "1" "94467467" "94467467" "subst" "4.06164E-6" "01695" "ABCA4_000780" "g.94467467G>A" "" "{PMID:Stone 2017:28559085}" "" "c.6229C>T Arg2077Trp CGG>TGG" "" "Unknown" "yes" "" "0" "" "" "g.94001911G>A" "" "likely pathogenic (recessive)" ""
"0000768441" "3" "70" "1" "94522274" "94522274" "subst" "0" "01695" "ABCA4_001470" "g.94522274G>C" "" "{PMID:Stone 2017:28559085}" "" "c.2265C>G Phe755Leu TTC>TTG" "" "Unknown" "yes" "" "0" "" "" "g.94056718G>C" "" "likely pathogenic (recessive)" ""
"0000768442" "0" "70" "1" "94495083" "94495083" "subst" "0.000124542" "01695" "ABCA4_000542" "g.94495083G>A" "" "{PMID:Stone 2017:28559085}" "" "c.4457C>T Pro1486Leu CCA>CTA" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94029527G>A" "" "likely pathogenic (recessive)" ""
"0000768443" "1" "70" "1" "94508358" "94508358" "subst" "4.06167E-6" "01695" "ABCA4_000636" "g.94508358G>A" "" "{PMID:Stone 2017:28559085}" "" "c.3287C>T Ser1096Leu TCG>TTG" "" "Unknown" "yes" "" "0" "" "" "g.94042802G>A" "" "likely pathogenic (recessive)" ""
"0000768444" "0" "90" "1" "94466625" "94466625" "subst" "1.62559E-5" "01695" "ABCA4_000839" "g.94466625G>A" "" "{PMID:Stone 2017:28559085}" "" "c.6319C>T Arg2107Cys CGC>TGC" "no variant 2nd chromosome; no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94001069G>A" "" "pathogenic (recessive)" ""
"0000768445" "0" "90" "1" "94526296" "94526296" "subst" "1.64555E-5" "01695" "ABCA4_000768" "g.94526296G>A" "" "{PMID:Stone 2017:28559085}" "" "c.1957C>T Arg653Cys CGC>TGC" "no variant 2nd chromosome; no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94060740G>A" "" "pathogenic (recessive)" ""
"0000768446" "1" "50" "1" "94496010" "94496010" "subst" "1.62434E-5" "01695" "ABCA4_000549" "g.94496010G>T" "" "{PMID:Stone 2017:28559085}" "" "c.4326C>A Asn1442Lys AAC>AAA" "no variant 2nd chromosome" "Unknown" "yes" "" "0" "" "" "g.94030454G>T" "" "VUS" ""
"0000768447" "1" "70" "1" "94490550" "94490550" "subst" "0.000105588" "01695" "ABCA4_000523" "g.94490550C>T" "" "{PMID:Stone 2017:28559085}" "" "c.4594G>A Asp1532Asn GAC>AAC" "no variant 2nd chromosome" "Unknown" "yes" "" "0" "" "" "g.94024994C>T" "" "likely pathogenic (recessive)" ""
"0000768448" "1" "90" "1" "94528167" "94528167" "subst" "0" "01695" "ABCA4_000268" "g.94528167G>A" "" "{PMID:Stone 2017:28559085}" "" "c.1903C>T Gln635Stop CAG>TAG" "no variant 2nd chromosome" "Unknown" "yes" "" "0" "" "" "g.94062611G>A" "" "pathogenic (recessive)" ""
"0000768449" "0" "70" "1" "94544249" "94544249" "subst" "8.12196E-6" "01695" "ABCA4_000323" "g.94544249A>G" "" "{PMID:Stone 2017:28559085}" "" "c.1253T>C Phe418Ser TTT>TCT" "no variant 2nd chromosome; no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94078693A>G" "" "likely pathogenic (recessive)" ""
"0000768450" "0" "70" "1" "94506859" "94506859" "subst" "8.12163E-6" "01695" "ABCA4_001464" "g.94506859G>T" "" "{PMID:Stone 2017:28559085}" "" "c.3428C>A Thr1143Asn ACC>AAC" "no variant 2nd chromosome; no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94041303G>T" "" "likely pathogenic (recessive)" ""
"0000768451" "0" "90" "1" "94496574" "94496577" "dup" "0" "01695" "ABCA4_001461" "g.94496574_94496577dup" "" "{PMID:Stone 2017:28559085}" "" "c.4227_4228insTATG Tyr1410 ins4ataTATG" "no variant 2nd chromosome; no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94031018_94031021dup" "" "pathogenic (recessive)" ""
"0000768452" "1" "90" "1" "94485159" "94485159" "dup" "0" "01695" "ABCA4_001453" "g.94485159dup" "" "{PMID:Stone 2017:28559085}" "" "c.5174_5175insG Val1725 ins1gtG" "no variant 2nd chromosome" "Unknown" "yes" "" "0" "" "" "g.94019603dup" "" "pathogenic (recessive)" ""
"0000768453" "0" "50" "1" "94528774" "94528774" "subst" "0.00264827" "01695" "ABCA4_000298" "g.94528774C>T" "" "{PMID:Stone 2017:28559085}" "" "c.1654G>A Val552Ile GTA>ATA" "no variant 2nd chromosome; no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94063218C>T" "" "VUS" ""
"0000768454" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Stone 2017:28559085}" "" "c.3113C>T Ala1038Val GCC>GTC" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000768455" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Stone 2017:28559085}" "" "c.3113C>T Ala1038Val GCC>GTC" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000768456" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Stone 2017:28559085}" "" "c.3113C>T Ala1038Val GCC>GTC" "" "Unknown" "yes" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000768457" "1" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Stone 2017:28559085}" "" "c.5882G>A Gly1961Glu GGA>GAA" "" "Unknown" "yes" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000768458" "1" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Stone 2017:28559085}" "" "c.768G>T Val256Val GTG>GTT" "no variant 2nd chromosome" "Unknown" "yes" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000768459" "1" "90" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Stone 2017:28559085}" "" "c.2894A>G Asn965Ser AAT>AGT" "no variant 2nd chromosome" "Unknown" "yes" "" "0" "" "" "g.94046943T>C" "" "pathogenic (recessive)" ""
"0000768460" "1" "90" "1" "94544158" "94544158" "del" "0" "01695" "ABCA4_000315" "g.94544158del" "" "{PMID:Stone 2017:28559085}" "" "c.1344delG Met448 del1atG" "no variant 2nd chromosome" "Unknown" "yes" "" "0" "" "" "g.94078602del" "" "pathogenic (recessive)" ""
"0000768461" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Jimenez-Rolando 2018:28571903}" "" "Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000768462" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Jimenez-Rolando 2018:28571903}" "" "Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000768463" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Kaway 2017:28611652}" "" "Gly1961Glu (c.5882G>A)" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000768464" "2" "90" "1" "94505685" "94505685" "subst" "0" "01695" "ABCA4_001893" "g.94505685T>C" "" "{PMID:Abalem 2017:28726568}" "" "IVS23-2A>G (c.3523-2A>G)" "" "Unknown" "yes" "" "0" "" "" "g.94040129T>C" "" "pathogenic (recessive)" ""
"0000768465" "0" "70" "1" "94487427" "94487427" "subst" "8.12176E-6" "01695" "ABCA4_001339" "g.94487427A>G" "" "{PMID:Abalem 2017:28726568}" "" "(c.4748T>C:p.Leu1583Pro)" "" "Unknown" "yes" "" "0" "" "" "g.94021871A>G" "" "likely pathogenic (recessive)" ""
"0000768466" "3" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Wang 2017:28838317}" "" "c.1804C > T p.R602W" "" "Unknown" "" "" "0" "" "" "g.94062710G>A" "" "pathogenic (recessive)" ""
"0000768467" "21" "90" "1" "94548914" "94548921" "del" "0" "01695" "ABCA4_002159" "g.94548914_94548921del" "" "{PMID:Wangtiraumnuay 2018:28885670}" "" "c.850_857delATTCAAGA" "" "Unknown" "" "" "0" "" "" "g.94083358_94083365del" "" "pathogenic (recessive)" ""
"0000768468" "3" "70" "1" "94466638" "94466638" "subst" "2.8465E-5" "01695" "ABCA4_000841" "g.94466638G>T" "" "{PMID:Villanueva 2018:28945494}" "" "c.6306C>A (p.Asp2102Glu)" "" "Unknown" "" "" "0" "" "" "g.94001082G>T" "" "likely pathogenic (recessive)" ""
"0000768469" "3" "70" "1" "94466638" "94466638" "subst" "2.8465E-5" "01695" "ABCA4_000841" "g.94466638G>T" "" "{PMID:Villanueva 2018:28945494}" "" "c.6306C>A (p.Asp2102Glu)" "" "Unknown" "" "" "0" "" "" "g.94001082G>T" "" "likely pathogenic (recessive)" ""
"0000768470" "0" "90" "1" "94546248" "94546248" "del" "2.03666E-5" "01695" "ABCA4_000352" "g.94546248del" "" "{PMID:Tanaka 2018:28947085}" "" "p.L296fs" "" "Unknown" "" "" "0" "" "" "g.94080692del" "" "pathogenic (recessive)" ""
"0000768471" "0" "90" "1" "94481294" "94481294" "subst" "0" "01695" "ABCA4_000110" "g.94481294C>T" "" "{PMID:Tanaka 2018:28947085}" "" "c.5312+1G>A" "" "Unknown" "" "" "0" "" "" "g.94015738C>T" "" "pathogenic (recessive)" ""
"0000768472" "0" "90" "1" "94544895" "94544895" "subst" "1.62455E-5" "01695" "ABCA4_000329" "g.94544895G>A" "" "{PMID:Tanaka 2018:28947085}" "" "p.R408*" "" "Unknown" "" "" "0" "" "" "g.94079339G>A" "" "pathogenic (recessive)" ""
"0000768473" "1" "90" "1" "94564383" "94564383" "subst" "0" "01695" "ABCA4_000371" "g.94564383A>C" "" "{PMID:Tanaka 2018:28947085}" "" "p.[Y245*/V767D]" "" "Unknown" "" "" "0" "" "" "g.94098827A>C" "" "pathogenic (recessive)" ""
"0000768474" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Tanaka 2018:28947085}" "" "p.R602W" "" "Unknown" "" "" "0" "" "" "g.94062710G>A" "" "pathogenic (recessive)" ""
"0000768475" "0" "90" "1" "94564548" "94564548" "subst" "0" "01695" "ABCA4_000197" "g.94564548C>A" "" "{PMID:Tanaka 2018:28947085}" "" "c.571-1G>T" "" "Unknown" "" "" "0" "" "" "g.94098992C>A" "" "pathogenic (recessive)" ""
"0000768476" "0" "90" "1" "94564548" "94564548" "subst" "0" "01695" "ABCA4_000197" "g.94564548C>A" "" "{PMID:Tanaka 2018:28947085}" "" "c.571-1G>T" "" "Unknown" "" "" "0" "" "" "g.94098992C>A" "" "pathogenic (recessive)" ""
"0000768477" "3" "90" "1" "94497427" "94497428" "del" "0" "01695" "ABCA4_000580" "g.94497427_94497428del" "" "{PMID:Tanaka 2018:28947085}" "" "p.T1346fs" "" "Unknown" "" "" "0" "" "" "g.94031871_94031872del" "" "pathogenic (recessive)" ""
"0000768478" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Tanaka 2018:28947085}" "" "c.5461-10T>C" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000768479" "0" "90" "1" "94505651" "94505652" "delins" "0" "01695" "ABCA4_001890" "g.94505651_94505652delinsTC" "" "{PMID:Tanaka 2018:28947085}" "" "p.S1185*" "" "Unknown" "" "" "0" "" "" "g.94040095_94040096delinsTC" "" "pathogenic (recessive)" ""
"0000768480" "0" "70" "1" "94578598" "94578598" "subst" "0" "01695" "ABCA4_000251" "g.94578598A>G" "" "{PMID:Tanaka 2018:28947085}" "" "p.W31*" "" "Unknown" "" "" "0" "" "" "g.94113042A>G" "" "likely pathogenic (recessive)" ""
"0000768481" "3" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Tanaka 2018:28947085}" "" "p.P1380L" "" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000768482" "3" "90" "1" "94486794" "94486794" "subst" "0" "01695" "ABCA4_000478" "g.94486794A>G" "" "{PMID:Tanaka 2018:28947085}" "" "c.5018+2T>C" "" "Unknown" "" "" "0" "" "" "g.94021238A>G" "" "pathogenic (recessive)" ""
"0000768483" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sheremet 2017:28980559}" "" "c.G5882A p.G1961E" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000768484" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sheremet 2017:28980559}" "" "c.G5882A p G1961E" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000768485" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sheremet 2017:28980559}" "" "c.G5882A p.G1961E" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000768486" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sheremet 2017:28980559}" "" "c.G5882A p.G1961E" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000768487" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Sheremet 2017:28980559}" "" "c.C 3113T c.T1622C p.A1038V p.L541P" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000768488" "0" "90" "1" "94528197" "94528197" "subst" "0" "01695" "ABCA4_001473" "g.94528197G>A" "" "{PMID:Sheremet 2017:28980559}" "" "?.C1873T p.Q625X" "" "Unknown" "" "" "0" "" "" "g.94062641G>A" "" "pathogenic (recessive)" ""
"0000768489" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Sheremet 2017:28980559}" "" "c.C3113T p.A1038V p.L541P" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000768490" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sheremet 2017:28980559}" "" "c.G5882A p.G1961E" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000768491" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Sheremet 2017:28980559}" "" "c.C3113T c.T1622C p.A1038V p.L541P" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000768492" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Sheremet 2017:28980559}" "" "c.C3113T c.T1622C p.A1038V p.L541P" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000768493" "3" "70" "1" "94467475" "94467475" "subst" "3.65542E-5" "01695" "ABCA4_000171" "g.94467475C>A" "" "{PMID:Sheremet 2017:28980559}" "" "p.G2074V" "" "Unknown" "" "" "0" "" "" "g.94001919C>A" "" "likely pathogenic (recessive)" ""
"0000768494" "0" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "" "{PMID:Sheremet 2017:28980559}" "" "c.G4469A p.C1490Y" "" "Unknown" "" "" "0" "" "" "g.94029515C>T" "" "likely pathogenic (recessive)" ""
"0000768495" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sheremet 2017:28980559}" "" "c.G5882A p.G1961E" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000768496" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Sheremet 2017:28980559}" "" "c.C 3113T c.T1622C" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000768497" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Sheremet 2017:28980559}" "" "c.C 3113T c.T1622C" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000768498" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Sheremet 2017:28980559}" "" "c.T1622C p.L541P" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000768499" "0" "70" "1" "94506910" "94506910" "subst" "0" "01695" "ABCA4_001465" "g.94506910A>T" "" "{PMID:Sheremet 2017:28980559}" "" "c.T3377A p.L1126H" "" "Unknown" "" "" "0" "" "" "g.94041354A>T" "" "likely pathogenic (recessive)" ""
"0000768500" "0" "70" "1" "94506910" "94506910" "subst" "0" "01695" "ABCA4_001465" "g.94506910A>T" "" "{PMID:Sheremet 2017:28980559}" "" "c.T3377A p.L1126H" "" "Unknown" "" "" "0" "" "" "g.94041354A>T" "" "likely pathogenic (recessive)" ""
"0000768501" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Sheremet 2017:28980559}" "" "c.C 3113T c.T1622C p.A1038V p.L541P" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000768502" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sheremet 2017:28980559}" "" "p.G1961E" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000768503" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sheremet 2017:28980559}" "" "p.G1961E" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000768504" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sheremet 2017:28980559}" "" "p.G1961E" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000768505" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sheremet 2017:28980559}" "" "p.G1961E" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000768506" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sheremet 2017:28980559}" "" "p.G1961E" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000768507" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sheremet 2017:28980559}" "" "p.G1961E" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000768508" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sheremet 2017:28980559}" "" "p.G1961E" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000768509" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sheremet 2017:28980559}" "" "p.G1961E" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000768510" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sheremet 2017:28980559}" "" "p.G1961E" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000768511" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sheremet 2017:28980559}" "" "p.G1961E" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000768512" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sheremet 2017:28980559}" "" "p.G1961E" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000768513" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sheremet 2017:28980559}" "" "p.G1961E" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000768514" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sheremet 2017:28980559}" "" "p.G1961E" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000768515" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Sheremet 2017:28980559}" "" "p.L541P" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000768516" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Sheremet 2017:28980559}" "" "p.P1380L" "" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000768517" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Sheremet 2017:28980559}" "" "[p.L541P;p.A1038V]" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000768518" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Sheremet 2017:28980559}" "" "[p.L541P;p.A1038V]" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000768519" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Sheremet 2017:28980559}" "" "[p.L541P;p.A1038V]" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000768520" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Sheremet 2017:28980559}" "" "[p.L541P;p.A1038V]" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000768521" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Sheremet 2017:28980559}" "" "[p.L541P;p.A1038V]" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000768522" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Sheremet 2017:28980559}" "" "[p.L541P;p.A1038V]" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000768523" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Sheremet 2017:28980559}" "" "[p.L541P;p.A1038V]" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000768524" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Sheremet 2017:28980559}" "" "[p.L541P;p.A1038V]" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000768525" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Sheremet 2017:28980559}" "" "[p.L541P;p.A1038V]" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000768526" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Sheremet 2017:28980559}" "" "[p.L541P;p.A1038V]" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000768527" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Sheremet 2017:28980559}" "" "N/p.L541P" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000768528" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Sheremet 2017:28980559}" "" "N/p.G863A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000768529" "3" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Ciccone 2018:29028687}" "" "p.P1380L" "" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000768530" "3" "90" "1" "94497427" "94497428" "del" "0" "01695" "ABCA4_000580" "g.94497427_94497428del" "" "{PMID:Ciccone 2018:29028687}" "" "c.4036_4037delAC" "" "Unknown" "" "" "0" "" "" "g.94031871_94031872del" "" "pathogenic (recessive)" ""
"0000768531" "0" "70" "1" "94546283" "94546283" "subst" "8.18311E-5" "01695" "ABCA4_000356" "g.94546283A>G" "" "{PMID:Ciccone 2018:29028687}" "" "IVS7:c.859-9T>C" "" "Unknown" "" "" "0" "" "" "g.94080727A>G" "" "likely pathogenic (recessive)" ""
"0000768532" "0" "70" "1" "94490567" "94490567" "subst" "5.68528E-5" "01695" "ABCA4_000026" "g.94490567G>A" "" "{PMID:Ciccone 2018:29028687}" "" "p.T1526M" "" "Unknown" "" "" "0" "" "" "g.94025011G>A" "" "likely pathogenic (recessive)" ""
"0000768533" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Ciccone 2018:29028687}" "" "p.P1380L" "" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000768534" "0" "70" "1" "94578618" "94578618" "subst" "0.000166918" "01695" "ABCA4_000252" "g.94578618C>T" "" "{PMID:Ciccone 2018:29028687}{PMID:Chen 2019:31015497}" "" "p.R24H" "" "Unknown" "" "" "0" "" "" "g.94113062C>T" "" "likely pathogenic (recessive)" ""
"0000768535" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Avela 2018:29068140}" "" "c.1622T>C p.(Leu541Pro), c.3113C>T p.(Ala1038Val)," "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000768536" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Avela 2018:29068140}" "" "c.1622T>C p.(Leu541Pro), c.3113C>T p.(Ala1038Val)," "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000768537" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Avela 2018:29068140}" "" "c.1622T>C p.(Leu541Pro), c.3113C>T p.(Ala1038Val) heterozygous complex allele in one chromosome" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000768538" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Avela 2018:29068140}" "" "c.3113C>T p.(Ala1038Val) heterozygous mutation" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000768539" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Salles 2017:29114839}" "" "p.[Leu541Pro;" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000768540" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Salles 2017:29114839}" "" "p.[Leu541Pro;" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000768541" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Salles 2017:29114839}" "" "p.[Leu541Pro;" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000768542" "3" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Salles 2017:29114839}{PMID:Salles 2018:30093795}" "" "p.[Leu541Pro;" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000768543" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Salles 2017:29114839}" "" "p.[Leu541Pro;" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000768544" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Salles 2017:29114839}" "" "p.[Leu541Pro;" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000768545" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Salles 2017:29114839}" "" "p.[Leu541Pro;" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000768546" "1" "50" "1" "94486888" "94486888" "subst" "3.65548E-5" "01695" "ABCA4_000137" "g.94486888G>C" "" "{PMID:Salles 2017:29114839}" "" "p.[Ser1642Arg;" "" "Unknown" "" "" "0" "" "" "g.94021332G>C" "" "VUS" ""
"0000768547" "1" "50" "1" "94486888" "94486888" "subst" "3.65548E-5" "01695" "ABCA4_000137" "g.94486888G>C" "" "{PMID:Salles 2017:29114839}" "" "p.[Ser1642Arg;" "" "Unknown" "" "" "0" "" "" "g.94021332G>C" "" "VUS" ""
"0000768548" "1" "50" "1" "94486888" "94486888" "subst" "3.65548E-5" "01695" "ABCA4_000137" "g.94486888G>C" "" "{PMID:Salles 2017:29114839}" "" "p.[Ser1642Arg;" "" "Unknown" "" "" "0" "" "" "g.94021332G>C" "" "VUS" ""
"0000768549" "1" "50" "1" "94486888" "94486888" "subst" "3.65548E-5" "01695" "ABCA4_000137" "g.94486888G>C" "" "{PMID:Salles 2017:29114839}" "" "p.[Ser1642Arg;" "" "Unknown" "" "" "0" "" "" "g.94021332G>C" "" "VUS" ""
"0000768550" "1" "50" "1" "94486888" "94486888" "subst" "3.65548E-5" "01695" "ABCA4_000137" "g.94486888G>C" "" "{PMID:Salles 2017:29114839}" "" "p.[Ser1642Arg;" "" "Unknown" "" "" "0" "" "" "g.94021332G>C" "" "VUS" ""
"0000768551" "1" "50" "1" "94486888" "94486888" "subst" "3.65548E-5" "01695" "ABCA4_000137" "g.94486888G>C" "" "{PMID:Salles 2017:29114839}" "" "p.[Ser1642Arg;" "" "Unknown" "" "" "0" "" "" "g.94021332G>C" "" "VUS" ""
"0000768552" "1" "50" "1" "94486888" "94486888" "subst" "3.65548E-5" "01695" "ABCA4_000137" "g.94486888G>C" "" "{PMID:Salles 2017:29114839}" "" "p.[Ser1642Arg;" "" "Unknown" "" "" "0" "" "" "g.94021332G>C" "" "VUS" ""
"0000768553" "1" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Salles 2017:29114839}{PMID:Salles 2018:30093795}" "" "p.Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000768554" "1" "50" "1" "94486888" "94486888" "subst" "3.65548E-5" "01695" "ABCA4_000137" "g.94486888G>C" "" "{PMID:Salles 2017:29114839}" "" "p.[Ser1642Arg;" "" "Unknown" "" "" "0" "" "" "g.94021332G>C" "" "VUS" ""
"0000768555" "1" "70" "1" "94481325" "94481325" "subst" "0" "01695" "ABCA4_001707" "g.94481325G>C" "" "{PMID:Salles 2017:29114839}" "" "p.[Pro1761Arg;" "" "Unknown" "" "" "0" "" "" "g.94015769G>C" "" "likely pathogenic (recessive)" ""
"0000768556" "1" "70" "1" "94481325" "94481325" "subst" "0" "01695" "ABCA4_001707" "g.94481325G>C" "" "{PMID:Salles 2017:29114839}" "" "p.[Pro1761Arg;" "" "Unknown" "" "" "0" "" "" "g.94015769G>C" "" "likely pathogenic (recessive)" ""
"0000768557" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cai 2018:29126757}" "" "c.5603A>T" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000768558" "0" "90" "1" "94586601" "94586601" "subst" "8.12156E-6" "01695" "ABCA4_000264" "g.94586601T>C" "" "{PMID:Cai 2018:29126757}" "" "c.1A>G" "" "Unknown" "" "" "0" "" "" "g.94121045T>C" "" "pathogenic (recessive)" ""
"0000768559" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Cai 2018:29126757}" "" "c.4139C>T" "" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000768560" "0" "70" "1" "94495177" "94495177" "subst" "1.22342E-5" "01695" "ABCA4_000023" "g.94495177A>G" "" "{PMID:Cai 2018:29126757}" "" "c.4363T>C," "" "Unknown" "" "" "0" "" "" "g.94029621A>G" "" "likely pathogenic (recessive)" ""
"0000768561" "0" "90" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Light 2017:28099317}{PMID:Cai 2018:29126757}" "" "c.2894A>G;" "" "Unknown" "" "" "0" "" "" "g.94046943T>C" "" "pathogenic (recessive)" ""
"0000768562" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Cai 2018:29126757}" "" "c.3322C>T" "" "Unknown" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000768563" "0" "90" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Cai 2018:29126757}" "" "c.6320G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94001068C>T" "" "pathogenic (recessive)" ""
"0000768564" "0" "90" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Cai 2018:29126757}" "" "c.6320G>A" "" "Unknown" "" "" "0" "" "" "g.94001068C>T" "" "pathogenic (recessive)" ""
"0000768565" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Cai 2018:29126757}" "" "c.3322C>T" "" "Unknown" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000768566" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cai 2018:29126757}" "" "c.5882G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000768567" "0" "70" "1" "94473807" "94473807" "subst" "0" "01695" "ABCA4_001279" "g.94473807C>G" "" "{PMID:Abed 2018:29178665}" "" "Het NM_000350.2: c.5882G>C;" "" "Unknown" "" "" "0" "" "" "g.94008251C>G" "" "likely pathogenic (recessive)" ""
"0000768568" "0" "70" "1" "94487251" "94487251" "subst" "2.85679E-5" "01695" "ABCA4_000490" "g.94487251G>T" "" "{PMID:Abed 2018:29178665}" "" "Het NM_000350.2: c.4793C>A;" "" "Unknown" "" "" "0" "" "" "g.94021695G>T" "" "likely pathogenic (recessive)" ""
"0000768569" "0" "70" "1" "94473807" "94473807" "subst" "0" "01695" "ABCA4_001279" "g.94473807C>G" "" "{PMID:Abed 2018:29178665}" "" "Het NM_000350.2: c.5882G>C;" "" "Unknown" "" "" "0" "" "" "g.94008251C>G" "" "likely pathogenic (recessive)" ""
"0000768570" "0" "70" "1" "94522239" "94522239" "subst" "2.03305E-5" "01695" "ABCA4_000736" "g.94522239A>T" "" "{PMID:Abed 2018:29178665}" "" "Het NM_000350: c.2300T>A:" "" "Unknown" "" "" "0" "" "" "g.94056683A>T" "" "likely pathogenic (recessive)" ""
"0000768571" "0" "70" "1" "94481346" "94481346" "subst" "0" "01695" "ABCA4_001708" "g.94481346T>C" "" "{PMID:Abed 2018:29178665}" "" "Het NM_000350:c.5261A>G:p.Y1754C Novel" "" "Unknown" "" "" "0" "" "" "g.94015790T>C" "" "likely pathogenic (recessive)" ""
"0000768572" "0" "90" "1" "94586541" "94586541" "subst" "4.0624E-6" "01695" "ABCA4_000256" "g.94586541G>A" "" "{PMID:Abed 2018:29178665}" "" "Het NM_000350.2: c.61C>T;" "" "Unknown" "" "" "0" "" "" "g.94120985G>A" "" "pathogenic (recessive)" ""
"0000768573" "0" "70" "1" "94473807" "94473807" "subst" "0" "01695" "ABCA4_001279" "g.94473807C>G" "" "{PMID:Abed 2018:29178665}" "" "Het NM_000350.2: c.5882G>C;" "" "Unknown" "" "" "0" "" "" "g.94008251C>G" "" "likely pathogenic (recessive)" ""
"0000768574" "3" "70" "1" "94505599" "94505599" "subst" "0" "01695" "ABCA4_000152" "g.94505599C>T" "" "{PMID:Abed 2018:29178665}" "" "Hom NM_000350.2: c.3607G>A;" "" "Unknown" "" "" "0" "" "" "g.94040043C>T" "" "likely pathogenic (recessive)" ""
"0000768575" "0" "90" "1" "94495990" "94495990" "subst" "0" "01695" "ABCA4_001460" "g.94495990C>T" "" "{PMID:Abed 2018:29178665}" "" "Het NM_000350.2: c.4346G>A;" "" "Unknown" "" "" "0" "" "" "g.94030434C>T" "" "pathogenic (recessive)" ""
"0000768576" "0" "50" "1" "94476428" "94476428" "subst" "7.71699E-5" "01695" "ABCA4_000422" "g.94476428G>A" "" "{PMID:Abed 2018:29178665}" "" "Het NM_000350.2: c.5642C>T;" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94010872G>A" "" "VUS" ""
"0000768577" "0" "70" "1" "94485247" "94485247" "subst" "4.07647E-5" "01695" "ABCA4_000475" "g.94485247C>T" "" "{PMID:Abed 2018:29178665}" "" "Het NM_000350.2: c.5087G>A;" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94019691C>T" "" "likely pathogenic (recessive)" ""
"0000768578" "0" "70" "1" "94487503" "94487503" "subst" "0" "01695" "ABCA4_001769" "g.94487503C>T" "" "{PMID:Abed 2018:29178665}" "" "Het NM_000350.2: c.4672G>A;" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94021947C>T" "" "likely pathogenic (recessive)" ""
"0000768579" "0" "90" "1" "94467413" "94467413" "subst" "8.12612E-6" "01695" "ABCA4_000131" "g.94467413C>G" "" "{PMID:Abed 2018:29178665}" "" "Het NM_000350.2: c.6282+1G>C" "" "Unknown" "" "" "0" "" "" "g.94001857C>G" "" "pathogenic (recessive)" ""
"0000768580" "0" "70" "1" "94480230" "94480230" "subst" "6.09177E-5" "01695" "ABCA4_001053" "g.94480230T>A" "" "{PMID:Abed 2018:29178665}" "" "Het NM_000350.2:c.5329A>T; NP_000341.2:p.M1777L" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94014674T>A" "" "likely pathogenic (recessive)" ""
"0000768581" "0" "90" "1" "94508386" "94508386" "subst" "1.62443E-5" "01695" "ABCA4_000642" "g.94508386C>T" "" "{PMID:Abed 2018:29178665}" "" "Het NM_000350.2: c.3259G>A;" "" "Unknown" "" "" "0" "" "" "g.94042830C>T" "" "pathogenic (recessive)" ""
"0000768582" "0" "70" "1" "94485247" "94485247" "subst" "4.07647E-5" "01695" "ABCA4_000475" "g.94485247C>T" "" "{PMID:Abed 2018:29178665}" "" "Het NM_000350.2: c.5087G>A;" "" "Unknown" "" "" "0" "" "" "g.94019691C>T" "" "likely pathogenic (recessive)" ""
"0000768583" "0" "70" "1" "94473807" "94473807" "subst" "0" "01695" "ABCA4_001279" "g.94473807C>G" "" "{PMID:Abed 2018:29178665}" "" "Het NM_000350.2: c.5882G>C;" "" "Unknown" "" "" "0" "" "" "g.94008251C>G" "" "likely pathogenic (recessive)" ""
"0000768584" "3" "70" "1" "94574147" "94574147" "subst" "8.12236E-6" "01695" "ABCA4_000213" "g.94574147G>A" "" "{PMID:Abed 2018:29178665}" "" "Hom NM_000350.2: c.428C>T;" "" "Unknown" "" "" "0" "" "" "g.94108591G>A" "" "likely pathogenic (recessive)" ""
"0000768585" "0" "50" "1" "94514477" "94514477" "subst" "0.00118992" "01695" "ABCA4_000700" "g.94514477G>A" "" "{PMID:Abed 2018:29178665}" "" "Het NM_000350.2: c.2690C>T;" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94048921G>A" "" "VUS" ""
"0000768586" "0" "70" "1" "94473807" "94473807" "subst" "0" "01695" "ABCA4_001279" "g.94473807C>G" "" "{PMID:Abed 2018:29178665}" "" "Het NM_000350.2: c.5882G>C;" "" "Unknown" "" "" "0" "" "" "g.94008251C>G" "" "likely pathogenic (recessive)" ""
"0000768587" "0" "50" "1" "94564451" "94564451" "subst" "0.000150413" "01695" "ABCA4_000378" "g.94564451T>G" "" "{PMID:Abed 2018:29178665}" "" "Het NM_000350.2: c.667A>C;" "" "Unknown" "" "" "0" "" "" "g.94098895T>G" "" "VUS" ""
"0000768588" "0" "70" "1" "94520705" "94520705" "subst" "0" "01695" "ABCA4_000714" "g.94520705T>C" "" "{PMID:Abed 2018:29178665}" "" "Het NM_000350.2: c.2549A>G;" "" "Unknown" "" "" "0" "" "" "g.94055149T>C" "" "likely pathogenic (recessive)" ""
"0000768589" "0" "90" "1" "94473231" "94473234" "del" "0" "01695" "ABCA4_000387" "g.94473231_94473234del" "" "{PMID:Abed 2018:29178665}" "" "Het NM_000350:c.5961_5964delGGAC:p. D1988Pfs*3" "" "Unknown" "" "" "0" "" "" "g.94007675_94007678del" "" "pathogenic (recessive)" ""
"0000768590" "0" "70" "1" "94564432" "94564432" "subst" "0" "01695" "ABCA4_001029" "g.94564432A>G" "" "{PMID:Abed 2018:29178665}" "" "Het NM_000350.2: c.686T>C;" "" "Unknown" "" "" "0" "" "" "g.94098876A>G" "" "likely pathogenic (recessive)" ""
"0000768591" "0" "70" "1" "94473807" "94473807" "subst" "0" "01695" "ABCA4_001279" "g.94473807C>G" "" "{PMID:Abed 2018:29178665}" "" "Het NM_000350.2: c.5882G>C;" "" "Unknown" "" "" "0" "" "" "g.94008251C>G" "" "likely pathogenic (recessive)" ""
"0000768592" "0" "90" "1" "94564548" "94564548" "subst" "0" "01695" "ABCA4_000197" "g.94564548C>A" "" "{PMID:Abed 2018:29178665}" "" "Het NM_000350.2: c.571-1G>T" "" "Unknown" "" "" "0" "" "" "g.94098992C>A" "" "pathogenic (recessive)" ""
"0000768593" "0" "90" "1" "94508353" "94508353" "subst" "2.8431E-5" "01695" "ABCA4_000141" "g.94508353G>A" "" "{PMID:Abed 2018:29178665}" "" "Het NM_000350.2: c.3292C>T;" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94042797G>A" "" "pathogenic (recessive)" ""
"0000768594" "0" "70" "1" "94467476" "94467476" "subst" "0" "01695" "ABCA4_000781" "g.94467476C>T" "" "{PMID:Abed 2018:29178665}" "" "Het NM_000350.2: c.6220G>A;" "" "Unknown" "" "" "0" "" "" "g.94001920C>T" "" "likely pathogenic (recessive)" ""
"0000768595" "0" "70" "1" "94473807" "94473807" "subst" "0" "01695" "ABCA4_001279" "g.94473807C>G" "" "{PMID:Abed 2018:29178665}" "" "Het NM_000350.2: c.5882G>C;" "" "Unknown" "" "" "0" "" "" "g.94008251C>G" "" "likely pathogenic (recessive)" ""
"0000768596" "0" "70" "1" "94473266" "94473266" "subst" "8.14677E-6" "01695" "ABCA4_000389" "g.94473266C>T" "" "{PMID:Abed 2018:29178665}" "" "Het NM_000350.2: c.5929G>A;" "" "Unknown" "" "" "0" "" "" "g.94007710C>T" "" "likely pathogenic (recessive)" ""
"0000768597" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Abed 2018:29178665}" "" "Het NM_000350.2: c.4139C>T;" "" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000768598" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Abed 2018:29178665}" "" "Het NM_000350.2: c.4139C>T;" "" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000768599" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Abed 2018:29178665}" "" "Het NM_000350.2: c.1622T>C;" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000768600" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Abed 2018:29178665}" "" "Het NM_000350.2: c.1622T>C;" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000768601" "0" "90" "1" "94463488" "94463488" "subst" "5.2803E-5" "01695" "ABCA4_000802" "g.94463488G>A" "" "{PMID:Abed 2018:29178665}" "" "Het NM_000350.2: c.6658C>T;" "" "Unknown" "" "" "0" "" "" "g.93997932G>A" "" "pathogenic (recessive)" ""
"0000768602" "0" "50" "1" "94476377" "94476377" "subst" "0.00160473" "01695" "ABCA4_000411" "g.94476377C>T" "" "{PMID:Lin 2018:29207047}" "" "c.5693G>A (p.R1898H)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94010821C>T" "" "VUS" ""
"0000768603" "0" "50" "1" "94564460" "94564460" "subst" "8.1355E-6" "01695" "ABCA4_000056" "g.94564460G>A" "" "{PMID:Zhao 2018:29288030}" "" "p.Arg220Cys" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94098904G>A" "" "VUS" ""
"0000768604" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Zhao 2018:29288030}" "" "p.Val256Val" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000768605" "0" "90" "1" "94546248" "94546248" "del" "2.03666E-5" "01695" "ABCA4_000352" "g.94546248del" "" "{PMID:Zhao 2018:29288030}" "" "p.Leu296fs" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94080692del" "" "pathogenic (recessive)" ""
"0000768606" "0" "90" "1" "94546047" "94546047" "subst" "0" "01695" "ABCA4_000150" "g.94546047A>T" "" "{PMID:Zhao 2018:29288030}" "" "p.Tyr362X" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94080491A>T" "" "pathogenic (recessive)" ""
"0000768607" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Zhao 2018:29288030}" "" "p.Leu541Pro" "no variant 2nd chromosome; Likely found as a complex allele (c.1622T>C; 3113C>T)" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000768608" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Zhao 2018:29288030}" "" "p.Leu541Pro" "no variant 2nd chromosome; Likely found as a complex allele (c.1622T>C; 3113C>T)" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000768609" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Zhao 2018:29288030}" "" "p.Leu541Pro" "no variant 2nd chromosome; Likely found as a complex allele (c.1622T>C; 3113C>T)" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000768610" "0" "70" "1" "94528151" "94528151" "subst" "0" "01695" "ABCA4_000265" "g.94528151G>A" "" "{PMID:Zhao 2018:29288030}" "" "p.Pro640Leu" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94062595G>A" "" "likely pathogenic (recessive)" ""
"0000768611" "0" "70" "1" "94522290" "94522290" "subst" "0" "01695" "ABCA4_002047" "g.94522290A>G" "" "{PMID:Zhao 2018:29288030}" "" "p.Leu750Pro" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94056734A>G" "" "likely pathogenic (recessive)" ""
"0000768612" "0" "70" "1" "94512478" "94512478" "subst" "3.65871E-5" "01695" "ABCA4_000678" "g.94512478G>T" "" "{PMID:Zhao 2018:29288030}" "" "p.Thr972Asn" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94046922G>T" "" "likely pathogenic (recessive)" ""
"0000768613" "0" "90" "1" "94509026" "94509026" "subst" "4.06497E-5" "01695" "ABCA4_000660" "g.94509026G>A" "" "{PMID:Zhao 2018:29288030}" "" "p.Thr1019Met" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94043470G>A" "" "pathogenic (recessive)" ""
"0000768614" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Zhao 2018:29288030}" "" "p.Ala1038Val" "no variant 2nd chromosome; Likely found as a complex allele (c.1622T>C; 3113C>T)" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000768615" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Zhao 2018:29288030}" "" "p.Ala1038Val" "no variant 2nd chromosome; Likely found as a complex allele (c.1622T>C; 3113C>T)" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000768616" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Zhao 2018:29288030}" "" "p.Ala1038Val" "no variant 2nd chromosome; Likely found as a complex allele (c.1622T>C; 3113C>T)" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000768617" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Zhao 2018:29288030}" "" "p.Arg1108Cys" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000768618" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Zhao 2018:29288030}" "" "p.Pro1380Leu" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000768619" "0" "70" "1" "94495078" "94495078" "subst" "8.37044E-6" "01695" "ABCA4_000042" "g.94495078A>G" "" "{PMID:Zhao 2018:29288030}" "" "p.Cys1488Arg" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94029522A>G" "" "likely pathogenic (recessive)" ""
"0000768620" "0" "70" "1" "94490567" "94490567" "subst" "5.68528E-5" "01695" "ABCA4_000026" "g.94490567G>A" "" "{PMID:Zhao 2018:29288030}" "" "p.Thr1526Met" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94025011G>A" "" "likely pathogenic (recessive)" ""
"0000768621" "0" "70" "1" "94487427" "94487427" "subst" "8.12176E-6" "01695" "ABCA4_001339" "g.94487427A>G" "" "{PMID:Zhao 2018:29288030}" "" "p.Leu1583Pro" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94021871A>G" "" "likely pathogenic (recessive)" ""
"0000768622" "0" "70" "1" "94486895" "94486895" "subst" "3.24923E-5" "01695" "ABCA4_000484" "g.94486895C>T" "" "{PMID:Zhao 2018:29288030}" "" "p.Arg1640Gln" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94021339C>T" "" "likely pathogenic (recessive)" ""
"0000768623" "0" "70" "1" "94480241" "94480241" "subst" "7.71705E-5" "01695" "ABCA4_000446" "g.94480241G>A" "" "{PMID:Zhao 2018:29288030}" "" "p.Ala1773Val" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94014685G>A" "" "likely pathogenic (recessive)" ""
"0000768624" "0" "70" "1" "94480241" "94480241" "subst" "7.71705E-5" "01695" "ABCA4_000446" "g.94480241G>A" "" "{PMID:Zhao 2018:29288030}" "" "p.Ala1773Val" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94014685G>A" "" "likely pathogenic (recessive)" ""
"0000768625" "0" "70" "1" "94480241" "94480241" "subst" "7.71705E-5" "01695" "ABCA4_000446" "g.94480241G>A" "" "{PMID:Zhao 2018:29288030}" "" "p.Ala1773Val" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94014685G>A" "" "likely pathogenic (recessive)" ""
"0000768626" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Zhao 2018:29288030}" "" "c.5461-10T>C" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000768627" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Zhao 2018:29288030}" "" "c.5461-10T>C" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000768628" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Zhao 2018:29288030}" "" "c.5461-10T>C" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000768629" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Zhao 2018:29288030}" "" "c.5461-10T>C" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000768630" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Zhao 2018:29288030}" "" "c.5461-10T>C" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000768631" "0" "50" "1" "94476377" "94476377" "subst" "0.00160473" "01695" "ABCA4_000411" "g.94476377C>T" "" "{PMID:Zhao 2018:29288030}" "" "p.Arg1898His" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94010821C>T" "" "VUS" ""
"0000768632" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Zhao 2018:29288030}" "" "c.5714+5G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000768633" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Zhao 2018:29288030}" "" "c.5714+5G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000768634" "0" "50" "1" "94473287" "94473287" "subst" "0.00293818" "01695" "ABCA4_000395" "g.94473287G>A" "" "{PMID:Zhao 2018:29288030}" "" "p.Leu1970Phe" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94007731G>A" "" "VUS" ""
"0000768635" "0" "70" "1" "94467467" "94467467" "subst" "4.06164E-6" "01695" "ABCA4_000780" "g.94467467G>A" "" "{PMID:Zhao 2018:29288030}" "" "p.Arg2077Trp" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94001911G>A" "" "likely pathogenic (recessive)" ""
"0000768636" "0" "70" "1" "94577082" "94577082" "subst" "2.84315E-5" "01695" "ABCA4_000232" "g.94577082C>T" "" "{PMID:Khan 2018:29310964}" "" "c.214G>A, p.Gly72Arg;" "" "Unknown" "" "" "0" "" "" "g.94111526C>T" "" "likely pathogenic (recessive)" ""
"0000768637" "0" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "" "{PMID:Khan 2018:29310964}" "" "c.4469G>A, p.Cys1490Tyr" "" "Unknown" "" "" "0" "" "" "g.94029515C>T" "" "likely pathogenic (recessive)" ""
"0000768638" "0" "70" "1" "94495177" "94495177" "subst" "1.22342E-5" "01695" "ABCA4_000023" "g.94495177A>G" "" "{PMID:Khan 2018:29310964}" "" "c.4363T>C, p.Cys1455Arg" "" "Unknown" "" "" "0" "" "" "g.94029621A>G" "" "likely pathogenic (recessive)" ""
"0000768639" "0" "70" "1" "94466624" "94466624" "subst" "0" "01695" "ABCA4_000838" "g.94466624C>G" "" "{PMID:Khan 2018:29310964}" "" "c. 6320G>C, p.Arg2107Cys;" "" "Unknown" "" "" "0" "" "" "g.94001068C>G" "" "likely pathogenic (recessive)" ""
"0000768640" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Khan 2018:29310964}" "" "c.2588G>C, p.Gly863Ala;" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000768641" "0" "90" "1" "94520733" "94520733" "subst" "4.06345E-6" "01695" "ABCA4_000717" "g.94520733G>A" "" "{PMID:Khan 2018:29310964}" "" "c.2521C>T, p.Gln841Ter;" "" "Unknown" "" "" "0" "" "" "g.94055177G>A" "" "pathogenic (recessive)" ""
"0000768642" "0" "90" "1" "94509026" "94509026" "subst" "4.06497E-5" "01695" "ABCA4_000660" "g.94509026G>A" "" "{PMID:Khan 2018:29310964}" "" "c.3056C>T, p.Thr1019Met" "" "Unknown" "" "" "0" "" "" "g.94043470G>A" "" "pathogenic (recessive)" ""
"0000768643" "3" "70" "1" "94487399" "94487399" "subst" "7.30959E-5" "01695" "ABCA4_000038" "g.94487399T>C" "" "{PMID:Schroeder 2018:29386879}" "" "c.4773+3A>G (hom)" "" "Unknown" "" "" "0" "" "" "g.94021843T>C" "" "likely pathogenic (recessive)" ""
"0000768644" "0" "90" "1" "94520690" "94520690" "subst" "2.03102E-5" "01695" "ABCA4_000149" "g.94520690C>T" "" "{PMID:Schroeder 2018:29386879}" "" "c.2564 G>Ac.3113 C>Tc.4506 C>T" "" "Unknown" "" "" "0" "" "" "g.94055134C>T" "" "pathogenic (recessive)" ""
"0000768645" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Schroeder 2018:29386879}" "" "c.1622 T>Cc.3113 C>Tc.5882 G>A" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000768646" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Schroeder 2018:29386879}" "" "c.5882 G>Ac.5917del" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000768647" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Schroeder 2018:29386879}" "" "c.3113 C>Tc.768 G>T" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000768648" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Schroeder 2018:29386879}" "" "c.768 G>Tc.1610 G>A" "" "Unknown" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000768649" "0" "70" "1" "94512478" "94512478" "subst" "3.65871E-5" "01695" "ABCA4_000678" "g.94512478G>T" "" "{PMID:Schroeder 2018:29386879}" "" "c.2915 C>Ac.5537 T>C" "" "Unknown" "" "" "0" "" "" "g.94046922G>T" "" "likely pathogenic (recessive)" ""
"0000768650" "0" "50" "1" "94546265" "94546265" "subst" "2.04063E-5" "01695" "ABCA4_000355" "g.94546265G>A" "" "{PMID:Schroeder 2018:29386879}" "" "c.868 C>Tc.317 A>T" "" "Unknown" "" "" "0" "" "" "g.94080709G>A" "" "VUS" ""
"0000768651" "3" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Schroeder 2018:29386879}" "" "c.3386 G>T (hom)" "" "Unknown" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000768652" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Schroeder 2018:29386879}" "" "c.5882 G>Ac.5917del" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000768653" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Schroeder 2018:29386879}" "" "c.2588 G>Cc.4253+4 C>T" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000768654" "3" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Schroeder 2018:29386879}" "" "c.768 G>T (hom)" "" "Unknown" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000768655" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Schroeder 2018:29386879}" "" "c.1622 T>Cc.3113 C>Tc.1804 C>T" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000768656" "0" "70" "1" "94528137" "94528137" "subst" "3.2538E-5" "01695" "ABCA4_002067" "g.94528137C>A" "" "{PMID:Schroeder 2018:29386879}" "" "c.1933 G>Tc.4249_4 251del" "" "Unknown" "" "" "0" "" "" "g.94062581C>A" "" "likely pathogenic (recessive)" ""
"0000768657" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Schroeder 2018:29386879}" "" "c.5882 G>Ac.4773+1 G>A" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000768658" "0" "70" "1" "94577010" "94577010" "subst" "1.22004E-5" "01695" "ABCA4_000224" "g.94577010T>C" "" "{PMID:Schroeder 2018:29386879}" "" "c.286 A>Gc.1798 G>T" "" "Unknown" "" "" "0" "" "" "g.94111454T>C" "" "likely pathogenic (recessive)" ""
"0000768659" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Schroeder 2018:29386879}" "" "c.768 G>Tc.6112 C>T" "" "Unknown" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000768660" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Schroeder 2018:29386879}" "" "c.2588 G>Cc.4253+4 C>T" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000768661" "0" "90" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Schroeder 2018:29386879}" "" "c.634 C>Tc.5882 G>A" "" "Unknown" "" "" "0" "" "" "g.94098928G>A" "" "pathogenic (recessive)" ""
"0000768662" "0" "50" "1" "94528774" "94528774" "subst" "0.00264827" "01695" "ABCA4_000298" "g.94528774C>T" "" "{PMID:Schroeder 2018:29386879}" "" "c.1654 G>Ac.4363 T>C" "" "Unknown" "" "" "0" "" "" "g.94063218C>T" "" "VUS" ""
"0000768663" "3" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Schroeder 2018:29386879}" "" "c.768 G>T (hom)" "" "Unknown" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000768664" "0" "90" "1" "94574256" "94574256" "subst" "2.8425E-5" "01695" "ABCA4_000040" "g.94574256G>A" "" "{PMID:Schroeder 2018:29386879}" "" "c.319 C>Tc.5461–10 T>C" "" "Unknown" "" "" "0" "" "" "g.94108700G>A" "" "pathogenic (recessive)" ""
"0000768665" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Schroeder 2018:29386879}" "" "c.768 G>Tc.2894 A>G" "" "Unknown" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000768666" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Schroeder 2018:29386879}" "" "c.1622 T>Cc.3113 C>Tc.1804 C>T" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000768667" "0" "90" "1" "94487401" "94487401" "subst" "4.06085E-6" "01695" "ABCA4_000995" "g.94487401C>T" "" "{PMID:Schroeder 2018:29386879}" "" "c.4773+1 G>Ac.53 G>A" "" "Unknown" "" "" "0" "" "" "g.94021845C>T" "" "pathogenic (recessive)" ""
"0000768668" "3" "90" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Schroeder 2018:29386879}" "" "c.2894 A>G (hom)" "" "Unknown" "" "" "0" "" "" "g.94046943T>C" "" "pathogenic (recessive)" ""
"0000768669" "0" "90" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Schroeder 2018:29386879}" "" "c.2894 A>Gc.4667+ T>C" "" "Unknown" "" "" "0" "" "" "g.94046943T>C" "" "pathogenic (recessive)" ""
"0000768670" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Schroeder 2018:29386879}" "" "c.768 G>Tc.2894 A>G" "" "Unknown" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000768671" "0" "70" "1" "94546126" "94546126" "subst" "2.03383E-5" "01695" "ABCA4_000343" "g.94546126G>C" "" "{PMID:Schroeder 2018:29386879}" "" "c.1007 C>Gc.5714+ 5G>A" "" "Unknown" "" "" "0" "" "" "g.94080570G>C" "" "likely pathogenic (recessive)" ""
"0000768672" "3" "90" "1" "94473278" "94473278" "del" "3.25908E-5" "01695" "ABCA4_000392" "g.94473278del" "" "{PMID:Schroeder 2018:29386879}" "" "c. 5917 del (hom)" "" "Unknown" "" "" "0" "" "" "g.94007722del" "" "pathogenic (recessive)" ""
"0000768673" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Schroeder 2018:29386879}" "" "c.768 G>Tc.4253+ 4C>T" "" "Unknown" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000768674" "3" "90" "1" "94508386" "94508386" "subst" "1.62443E-5" "01695" "ABCA4_000642" "g.94508386C>T" "" "{PMID:Schroeder 2018:29386879}" "" "c.3259 G>A (hom)" "" "Unknown" "" "" "0" "" "" "g.94042830C>T" "" "pathogenic (recessive)" ""
"0000768675" "3" "70" "1" "94467467" "94467467" "subst" "4.06164E-6" "01695" "ABCA4_000780" "g.94467467G>A" "" "{PMID:Schroeder 2018:29386879}" "" "c.6229 C>T (hom)" "" "Unknown" "" "" "0" "" "" "g.94001911G>A" "" "likely pathogenic (recessive)" ""
"0000768676" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Schroeder 2018:29386879}" "" "c.768 G>Tc.2894 A>G" "" "Unknown" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000768677" "3" "70" "1" "94480241" "94480241" "subst" "7.71705E-5" "01695" "ABCA4_000446" "g.94480241G>A" "" "{PMID:López-Rubio 2018:29422768}" "" "Homozygous" "" "Unknown" "yes" "" "0" "" "" "g.94014685G>A" "" "likely pathogenic (recessive)" ""
"0000768678" "3" "70" "1" "94480241" "94480241" "subst" "7.71705E-5" "01695" "ABCA4_000446" "g.94480241G>A" "" "{PMID:López-Rubio 2018:29422768}" "" "Homozygous" "" "Unknown" "yes" "" "0" "" "" "g.94014685G>A" "" "likely pathogenic (recessive)" ""
"0000768679" "3" "70" "1" "94480241" "94480241" "subst" "7.71705E-5" "01695" "ABCA4_000446" "g.94480241G>A" "" "{PMID:López-Rubio 2018:29422768}" "" "Homozygous" "" "Unknown" "yes" "" "0" "" "" "g.94014685G>A" "" "likely pathogenic (recessive)" ""
"0000768680" "3" "70" "1" "94480241" "94480241" "subst" "7.71705E-5" "01695" "ABCA4_000446" "g.94480241G>A" "" "{PMID:López-Rubio 2018:29422768}" "" "Homozygous" "" "Unknown" "yes" "" "0" "" "" "g.94014685G>A" "" "likely pathogenic (recessive)" ""
"0000768681" "3" "70" "1" "94480241" "94480241" "subst" "7.71705E-5" "01695" "ABCA4_000446" "g.94480241G>A" "" "{PMID:López-Rubio 2018:29422768}" "" "Homozygous" "" "Unknown" "yes" "" "0" "" "" "g.94014685G>A" "" "likely pathogenic (recessive)" ""
"0000768682" "3" "70" "1" "94480241" "94480241" "subst" "7.71705E-5" "01695" "ABCA4_000446" "g.94480241G>A" "" "{PMID:López-Rubio 2018:29422768}" "" "Homozygous" "" "Unknown" "yes" "" "0" "" "" "g.94014685G>A" "" "likely pathogenic (recessive)" ""
"0000768683" "3" "70" "1" "94480241" "94480241" "subst" "7.71705E-5" "01695" "ABCA4_000446" "g.94480241G>A" "" "{PMID:López-Rubio 2018:29422768}" "" "Homozygous" "" "Unknown" "yes" "" "0" "" "" "g.94014685G>A" "" "likely pathogenic (recessive)" ""
"0000768684" "3" "70" "1" "94480241" "94480241" "subst" "7.71705E-5" "01695" "ABCA4_000446" "g.94480241G>A" "" "{PMID:López-Rubio 2018:29422768}" "" "Homozygous" "" "Unknown" "yes" "" "0" "" "" "g.94014685G>A" "" "likely pathogenic (recessive)" ""
"0000768685" "0" "70" "1" "94480241" "94480241" "subst" "7.71705E-5" "01695" "ABCA4_000446" "g.94480241G>A" "" "{PMID:López-Rubio 2018:29422768}" "" "Heterozygous" "no variant 2nd chromosome" "Unknown" "yes" "" "0" "" "" "g.94014685G>A" "" "likely pathogenic (recessive)" ""
"0000768686" "3" "70" "1" "94480241" "94480241" "subst" "7.71705E-5" "01695" "ABCA4_000446" "g.94480241G>A" "" "{PMID:López-Rubio 2018:29422768}" "" "Homozygous" "" "Unknown" "yes" "" "0" "" "" "g.94014685G>A" "" "likely pathogenic (recessive)" ""
"0000768687" "3" "90" "1" "94487200" "94487200" "del" "0" "01695" "ABCA4_000873" "g.94487200del" "" "{PMID:Huang 2018:29437900}" "" "c.4845delT, (p.K1616Rfs*46)" "" "Unknown" "yes" "" "0" "" "" "g.94021644del" "" "pathogenic (recessive)" ""
"0000768688" "3" "90" "1" "94487200" "94487200" "del" "0" "01695" "ABCA4_000873" "g.94487200del" "" "{PMID:Huang 2018:29437900}" "" "c.4845delT, (p.K1616Rfs*46)" "" "Unknown" "yes" "" "0" "" "" "g.94021644del" "" "pathogenic (recessive)" ""
"0000768689" "3" "90" "1" "94487200" "94487200" "del" "0" "01695" "ABCA4_000873" "g.94487200del" "" "{PMID:Huang 2018:29437900}" "" "c.4845delT, (p.K1616Rfs*46)" "" "Unknown" "yes" "" "0" "" "" "g.94021644del" "" "pathogenic (recessive)" ""
"0000768690" "0" "90" "1" "94574256" "94574256" "subst" "2.8425E-5" "01695" "ABCA4_000040" "g.94574256G>A" "" "{PMID:Essilfie 2018:29470301}" "" "pArg107Ter" "" "Unknown" "yes" "" "0" "" "" "g.94108700G>A" "" "pathogenic (recessive)" ""
"0000768691" "0" "90" "1" "94577046" "94577049" "dup" "0" "01695" "ABCA4_000227" "g.94577046_94577049dup" "" "{PMID:Melillo 2018:29625472}" "" "p.Ser84Thrfs*16" "" "Unknown" "" "" "0" "" "" "g.94111490_94111493dup" "" "pathogenic (recessive)" ""
"0000768692" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Melillo 2018:29625472}" "" "p.Leu541Pro/p.Ala1038Val" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000768693" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Melillo 2018:29625472}" "" "p.Leu541Pro/p.Ala1038Val" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000768694" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Melillo 2018:29625472}{PMID:Melillo 2020:32821503}" "" "p.Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000768695" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Melillo 2018:29625472}{PMID:Melillo 2020:32821503}" "" "p.Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000768696" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Melillo 2018:29625472}" "" "p.Leu541Pro/p.Ala1038Val" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000768697" "0" "50" "1" "94568686" "94568686" "subst" "0.00258122" "01695" "ABCA4_000212" "g.94568686C>T" "" "{PMID:Melillo 2018:29625472}" "" "p.Arg152Gln" "" "Unknown" "" "" "0" "" "" "g.94103130C>T" "" "VUS" ""
"0000768698" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Melillo 2018:29625472}" "" "p.Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000768699" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Melillo 2018:29625472}{PMID:Melillo 2020:32821503}" "" "p.Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000768700" "0" "90" "1" "94495009" "94495009" "dup" "0" "01695" "ABCA4_000087" "g.94495009dup" "" "{PMID:Melillo 2018:29625472}" "" "4538insC" "" "Unknown" "" "" "0" "" "" "g.94029453dup" "" "pathogenic (recessive)" ""
"0000768701" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Melillo 2018:29625472}" "" "p.Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000768702" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Melillo 2018:29625472}" "" "p.Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000768703" "0" "90" "1" "94564383" "94564383" "subst" "0" "01695" "ABCA4_000371" "g.94564383A>C" "" "{PMID:Melillo 2018:29625472}" "" "p.Tyr245X" "" "Unknown" "" "" "0" "" "" "g.94098827A>C" "" "pathogenic (recessive)" ""
"0000768704" "3" "70" "1" "94577010" "94577010" "subst" "1.22004E-5" "01695" "ABCA4_000224" "g.94577010T>C" "" "{PMID:Melillo 2018:29625472}" "" "p.Asn96Asp" "" "Unknown" "" "" "0" "" "" "g.94111454T>C" "" "likely pathogenic (recessive)" ""
"0000768705" "3" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Melillo 2018:29625472}" "" "p.Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000768722" "3" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Mahroo 2018:29765157}" "" "c.5882G>A" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000768723" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Wawrocka 2018:29769798}" "" "c.5882G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000768724" "0" "70" "1" "94577082" "94577082" "subst" "2.84315E-5" "01695" "ABCA4_000232" "g.94577082C>T" "" "{PMID:Garces 2018:29847635}" "" "c.214G>A, p.(Gly72Arg)12" "" "Unknown" "" "" "0" "" "" "g.94111526C>T" "" "likely pathogenic (recessive)" ""
"0000768725" "0" "70" "1" "94577082" "94577082" "subst" "2.84315E-5" "01695" "ABCA4_000232" "g.94577082C>T" "" "{PMID:Garces 2018:29847635}" "" "c.214G>A, p.(Gly72Arg)12" "" "Unknown" "" "" "0" "" "" "g.94111526C>T" "" "likely pathogenic (recessive)" ""
"0000768726" "0" "90" "1" "94577083" "94577083" "dup" "0" "01695" "ABCA4_000993" "g.94577083dup" "" "{PMID:Garces 2018:29847635}" "" "c.213dupG, p.(Ile73Aspfs*26)‡" "" "Unknown" "" "" "0" "" "" "g.94111527dup" "" "pathogenic (recessive)" ""
"0000768727" "3" "70" "1" "94480179" "94480179" "subst" "0" "01695" "ABCA4_000991" "g.94480179C>G" "" "{PMID:Garces 2018:29847635}" "" "c.5380G>C, p.(Ala1794Pro)‡" "" "Unknown" "" "" "0" "" "" "g.94014623C>G" "" "likely pathogenic (recessive)" ""
"0000768728" "0" "70" "1" "94467467" "94467467" "subst" "4.06164E-6" "01695" "ABCA4_000780" "g.94467467G>A" "" "{PMID:Garces 2018:29847635}" "" "c.6229C>T, p.(Arg2077Trp)12" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94001911G>A" "" "likely pathogenic (recessive)" ""
"0000768729" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Garces 2018:29847635}" "" "[1622T>C;3113C>T] p.[Leu541Pro;Ala1038Val]20,36" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000768730" "0" "70" "1" "94508373" "94508373" "subst" "0" "01695" "ABCA4_000639" "g.94508373C>T" "" "{PMID:Garces 2018:29847635}" "" "c.3272G>A, p.(Gly1091Glu)55" "" "Unknown" "" "" "0" "" "" "g.94042817C>T" "" "likely pathogenic (recessive)" ""
"0000768731" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Garces 2018:29847635}" "" "c.5461–10T>C, p.(Thr1821Aspfs*6)54" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000768732" "0" "90" "1" "94546033" "94546033" "subst" "0" "01695" "ABCA4_000992" "g.94546033C>G" "" "{PMID:Garces 2018:29847635}" "" "c.1099+1G>C, p.(?)56" "" "Unknown" "" "" "0" "" "" "g.94080477C>G" "" "pathogenic (recessive)" ""
"0000768733" "0" "70" "1" "94497393" "94497393" "subst" "2.04188E-5" "01695" "ABCA4_000578" "g.94497393C>T" "" "{PMID:Garces 2018:29847635}" "" "c.4069G>A, p.(Ala1357Thr)58" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94031837C>T" "" "likely pathogenic (recessive)" ""
"0000768734" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Paavo 2018:29847651}" "" "p.G1961E" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000768735" "0" "90" "1" "94526296" "94526296" "subst" "1.64555E-5" "01695" "ABCA4_000768" "g.94526296G>A" "" "{PMID:Paavo 2018:29847651}" "" "p.R653C" "" "Unknown" "" "" "0" "" "" "g.94060740G>A" "" "pathogenic (recessive)" ""
"0000768736" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Paavo 2018:29847651}" "" "p.[L541P;A1038V]" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000768737" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Paavo 2018:29847651}" "" "p.R1108C" "" "Unknown" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000768738" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Paavo 2018:29847651}" "" "p.G1961E" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000768739" "0" "70" "1" "94480241" "94480241" "subst" "7.71705E-5" "01695" "ABCA4_000446" "g.94480241G>A" "" "{PMID:Paavo 2018:29847651}" "" "p.A1773V" "" "Unknown" "" "" "0" "" "" "g.94014685G>A" "" "likely pathogenic (recessive)" ""
"0000768740" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Paavo 2018:29847651}" "" "p.G1961E" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000768741" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Paavo 2018:29847651}" "" "p.R602W" "" "Unknown" "" "" "0" "" "" "g.94062710G>A" "" "pathogenic (recessive)" ""
"0000768742" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Paavo 2018:29847651}" "" "p.G1961E" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000768743" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Paavo 2018:29847651}" "" "p.G1961E" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000768744" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Paavo 2018:29847651}" "" "p.G1961E" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000768745" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Paavo 2018:29847651}" "" "p.G1961E" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000768746" "0" "70" "1" "94510164" "94510164" "subst" "1.62441E-5" "01695" "ABCA4_000144" "g.94510164C>T" "" "{PMID:Paavo 2018:29847651}" "" "c.3050+5G>A" "" "Unknown" "" "" "0" "" "" "g.94044608C>T" "" "likely pathogenic (recessive)" ""
"0000768747" "0" "90" "1" "94497564" "94497564" "subst" "1.64383E-5" "01695" "ABCA4_000091" "g.94497564G>A" "" "{PMID:Paavo 2018:29847651}" "" "p.R1300" "" "Unknown" "" "" "0" "" "" "g.94032008G>A" "" "pathogenic (recessive)" ""
"0000768748" "0" "50" "1" "94480164" "94480164" "subst" "0" "01695" "ABCA4_000440" "g.94480164T>C" "" "{PMID:Paavo 2018:29847651}" "" "p.N1799D" "" "Unknown" "" "" "0" "" "" "g.94014608T>C" "" "VUS" ""
"0000768749" "0" "90" "1" "94466628" "94466628" "subst" "0.000109748" "01695" "ABCA4_000094" "g.94466628G>A" "" "{PMID:Paavo 2018:29847651}" "" "p.R2106C" "" "Unknown" "" "" "0" "" "" "g.94001072G>A" "" "pathogenic (recessive)" ""
"0000768750" "0" "70" "1" "94490567" "94490567" "subst" "5.68528E-5" "01695" "ABCA4_000026" "g.94490567G>A" "" "{PMID:Paavo 2018:29847651}" "" "p.T1526M" "" "Unknown" "" "" "0" "" "" "g.94025011G>A" "" "likely pathogenic (recessive)" ""
"0000768751" "0" "70" "1" "94467467" "94467467" "subst" "4.06164E-6" "01695" "ABCA4_000095" "g.94467467G>C" "" "{PMID:Paavo 2018:29847651}" "" "p.R2077G" "" "Unknown" "" "" "0" "" "" "g.94001911G>C" "" "likely pathogenic (recessive)" ""
"0000768752" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Paavo 2018:29847651}" "" "p.N1868I" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000768753" "3" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Paavo 2018:29847651}" "" "p.G1961E" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000768754" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Paavo 2018:29847651}" "" "p.G1961E" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000768755" "0" "70" "1" "94481364" "94481364" "subst" "0" "01695" "ABCA4_000864" "g.94481364C>T" "" "{PMID:Paavo 2018:29847651}" "" "p.G1748E" "" "Unknown" "" "" "0" "" "" "g.94015808C>T" "" "likely pathogenic (recessive)" ""
"0000768756" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Paavo 2018:29847651}" "" "p.G1961E" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000768757" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Paavo 2018:29847651}" "" "p.[L541P;A1038V]" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000768758" "0" "90" "1" "94510253" "94510253" "subst" "0.000247694" "01695" "ABCA4_000108" "g.94510253A>G" "" "{PMID:Paavo 2018:29847651}" "" "p.V989A" "" "Unknown" "" "" "0" "" "" "g.94044697A>G" "" "pathogenic (recessive)" ""
"0000768759" "0" "70" "1" "94577135" "94577135" "subst" "2.43718E-5" "01695" "ABCA4_000240" "g.94577135C>T" "" "{PMID:Zernant 2018:29848554}" "" "c.161G>A (p.Cys54Tyr)" "" "Unknown" "" "" "0" "" "" "g.94111579C>T" "" "likely pathogenic (recessive)" ""
"0000768760" "0" "70" "1" "94577135" "94577135" "subst" "2.43718E-5" "01695" "ABCA4_000240" "g.94577135C>T" "" "{PMID:Zernant 2018:29848554}" "" "c.161G>A (p.Cys54Tyr)" "" "Unknown" "" "" "0" "" "" "g.94111579C>T" "" "likely pathogenic (recessive)" ""
"0000768761" "0" "90" "1" "94577046" "94577049" "dup" "0" "01695" "ABCA4_000227" "g.94577046_94577049dup" "" "{PMID:Zernant 2018:29848554}" "" "c.247_250dup (p.Ser84Thrfs?15)" "" "Unknown" "" "" "0" "" "" "g.94111490_94111493dup" "" "pathogenic (recessive)" ""
"0000768762" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Zernant 2018:29848554}" "" "c.768G>T (p.Leu257Valfs?17)" "" "Unknown" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000768763" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Zernant 2018:29848554}" "" "c.768G>T (p.Leu257Valfs?17)" "" "Unknown" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000768764" "2" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Zernant 2018:29848554}" "" "c.[1622T>C;3113C>T] (p.[Leu541Pro;Ala1038Val])" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000768765" "0" "90" "1" "94528251" "94528251" "subst" "2.84824E-5" "01695" "ABCA4_000281" "g.94528251C>T" "" "{PMID:Zernant 2018:29848554}" "" "c.1819G>A (p.Gly607Arg)" "" "Unknown" "" "" "0" "" "" "g.94062695C>T" "" "pathogenic (recessive)" ""
"0000768766" "0" "90" "1" "94528251" "94528251" "subst" "2.84824E-5" "01695" "ABCA4_000281" "g.94528251C>T" "" "{PMID:Zernant 2018:29848554}" "" "c.1819G>A (p.Gly607Arg)" "" "Unknown" "" "" "0" "" "" "g.94062695C>T" "" "pathogenic (recessive)" ""
"0000768767" "1" "70" "1" "94496509" "94496509" "subst" "0.00475243" "01695" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Zernant 2018:29848554}" "" "c.[4253+43G>A;6006-609T>A]" "" "Unknown" "" "" "0" "" "" "g.94030953C>T" "" "likely pathogenic (recessive)" ""
"0000768768" "0" "90" "1" "94506817" "94506817" "subst" "0" "01695" "ABCA4_001342" "g.94506817A>C" "" "{PMID:Zernant 2018:29848554}" "" "c.3470T>G (p.Leu1157?)" "" "Unknown" "" "" "0" "" "" "g.94041261A>C" "" "pathogenic (recessive)" ""
"0000768769" "0" "90" "1" "94502346" "94502346" "subst" "0" "01695" "ABCA4_000593" "g.94502346T>C" "" "{PMID:Zernant 2018:29848554}" "" "c.3814-2A>G (p.?)" "" "Unknown" "" "" "0" "" "" "g.94036790T>C" "" "pathogenic (recessive)" ""
"0000768770" "0" "90" "1" "94497564" "94497564" "subst" "1.64383E-5" "01695" "ABCA4_000091" "g.94497564G>A" "" "{PMID:Zernant 2018:29848554}" "" "c.3898C>T (p.Arg1300?)" "" "Unknown" "" "" "0" "" "" "g.94032008G>A" "" "pathogenic (recessive)" ""
"0000768771" "0" "50" "1" "94496557" "94496557" "subst" "8.12381E-6" "01695" "ABCA4_000562" "g.94496557G>T" "" "{PMID:Zernant 2018:29848554}" "" "c.4248C>A (p.Phe1416Leu)" "" "Unknown" "" "" "0" "" "" "g.94031001G>T" "" "VUS" ""
"0000768772" "0" "90" "1" "94495000" "94495000" "subst" "0" "01695" "ABCA4_000164" "g.94495000C>A" "" "{PMID:Zernant 2018:29848554}" "" "c.4539+1G>T (p.?)" "" "Unknown" "" "" "0" "" "" "g.94029444C>A" "" "pathogenic (recessive)" ""
"0000768773" "0" "30" "1" "94493272" "94493272" "subst" "0" "01695" "ABCA4_000904" "g.94493272C>A" "" "{PMID:Zernant 2018:29848554}" "" "c.4539+1729G>T (p.?)" "" "Unknown" "" "" "0" "" "" "g.94027716C>A" "" "likely benign" ""
"0000768774" "0" "70" "1" "94486896" "94486896" "subst" "3.65562E-5" "01695" "ABCA4_000085" "g.94486896G>A" "" "{PMID:Zernant 2018:29848554}" "" "c.4918C>T (p.Arg1640Trp)" "" "Unknown" "" "" "0" "" "" "g.94021340G>A" "" "likely pathogenic (recessive)" ""
"0000768775" "0" "90" "1" "94481293" "94481293" "subst" "4.07448E-6" "01695" "ABCA4_000057" "g.94481293A>C" "" "{PMID:Zernant 2018:29848554}" "" "c.5312+2T>G (p.?)" "" "Unknown" "" "" "0" "" "" "g.94015737A>C" "" "pathogenic (recessive)" ""
"0000768776" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Zernant 2018:29848554}" "" "c.5461-10T>C (p.Thr1821Valfs?13, p.Thr1821Aspfs?6)" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000768777" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Zernant 2018:29848554}" "" "c.5461-10T>C (p.Thr1821Valfs?13, p.Thr1821Aspfs?6)" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000768778" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Zernant 2018:29848554}" "" "c.5461-10T>C (p.Thr1821Valfs?13, p.Thr1821Aspfs?6)" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000768779" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Zernant 2018:29848554}" "" "c.5461-10T>C (p.Thr1821Valfs?13, p.Thr1821Aspfs?6)" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000768780" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Zernant 2018:29848554}" "" "c.5461-10T>C (p.Thr1821Valfs?13, p.Thr1821Aspfs?6)" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000768781" "0" "70" "1" "94473281" "94473281" "subst" "0" "01695" "ABCA4_000393" "g.94473281C>T" "" "{PMID:Zernant 2018:29848554}" "" "c.5914G>A (p.Gly1972Arg)" "" "Unknown" "" "" "0" "" "" "g.94007725C>T" "" "likely pathogenic (recessive)" ""
"0000768782" "0" "70" "1" "94578619" "94578619" "subst" "2.85088E-5" "01695" "ABCA4_000253" "g.94578619G>A" "" "{PMID:Zernant 2018:29848554}" "" "c.[70C>T(;)2041C>T] (p.[Arg24Cys(;)Arg681?])" "" "Unknown" "" "" "0" "" "" "g.94113063G>A" "" "likely pathogenic (recessive)" ""
"0000768783" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Zernant 2018:29848554}" "" "c.[4139C>T(;)5308T>G] (p.[Pro1380Leu(;)Tyr1770Asp])" "" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000768784" "3" "70" "1" "94463568" "94463603" "del" "0" "01695" "ABCA4_000805" "g.94463568_94463603del" "" "{PMID:Zernant 2018:29848554}" "" "c.6543_6578del (p.Leu2182_Phe2193del) homozygote" "" "Unknown" "" "" "0" "" "" "g.93998012_93998047del" "" "likely pathogenic (recessive)" ""
"0000768785" "1" "70" "1" "94496509" "94496509" "subst" "0.00475243" "01695" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Zernant 2018:29848554}" "" "ND c.[4253+43G>A;6006-609T>A]" "" "Unknown" "" "" "0" "" "" "g.94030953C>T" "" "likely pathogenic (recessive)" ""
"0000768786" "0" "70" "1" "94496509" "94496509" "subst" "0.00475243" "01695" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Zernant 2018:29848554}" "" "ND c.4253+43G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94030953C>T" "" "likely pathogenic (recessive)" ""
"0000768787" "0" "70" "1" "94496509" "94496509" "subst" "0.00475243" "01695" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Zernant 2018:29848554}" "" "ND c.4253+43G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94030953C>T" "" "likely pathogenic (recessive)" ""
"0000768788" "0" "70" "1" "94528702" "94528702" "subst" "1.62468E-5" "01695" "ABCA4_000293" "g.94528702C>G" "" "{PMID:Zernant 2018:29848554}" "" "c.1726G>C (p.Asp576His)" "" "Unknown" "" "" "0" "" "" "g.94063146C>G" "" "likely pathogenic (recessive)" ""
"0000768789" "0" "90" "1" "94509026" "94509026" "subst" "4.06497E-5" "01695" "ABCA4_000660" "g.94509026G>A" "" "{PMID:Zernant 2018:29848554}" "" "c.3056C>T (p.Thr1019Met)" "" "Unknown" "" "" "0" "" "" "g.94043470G>A" "" "pathogenic (recessive)" ""
"0000768790" "0" "70" "1" "94506874" "94506874" "subst" "0" "01695" "ABCA4_001900" "g.94506874A>T" "" "{PMID:Zernant 2018:29848554}" "" "c.3413T>A (p.Leu1138His)" "" "Unknown" "" "" "0" "" "" "g.94041318A>T" "" "likely pathogenic (recessive)" ""
"0000768791" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Zernant 2018:29848554}" "" "c.5882G>A (p.Gly1961Glu)" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000768792" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Zernant 2018:29848554}" "" "c.5882G>A (p.Gly1961Glu)" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000768793" "0" "70" "1" "94577069" "94577069" "subst" "0" "01695" "ABCA4_002225" "g.94577069T>G" "" "{PMID:Smaragda 2018:29854428}" "" "c.227A>C" "" "Unknown" "" "" "0" "" "" "g.94111513T>G" "" "likely pathogenic (recessive)" ""
"0000768794" "0" "70" "1" "94526161" "94526161" "subst" "0" "01695" "ABCA4_002055" "g.94526161A>G" "" "{PMID:Smaragda 2018:29854428}" "" "c.2092T>C" "" "Unknown" "" "" "0" "" "" "g.94060605A>G" "" "likely pathogenic (recessive)" ""
"0000768795" "0" "70" "1" "94586550" "94586550" "subst" "1.21864E-5" "01695" "ABCA4_000037" "g.94586550G>A" "" "{PMID:Smaragda 2018:29854428}" "" "c.52C>T" "" "Unknown" "" "" "0" "" "" "g.94120994G>A" "" "likely pathogenic (recessive)" ""
"0000768796" "0" "90" "1" "94495983" "94495983" "subst" "8.12348E-6" "01695" "ABCA4_000547" "g.94495983C>T" "" "{PMID:Smaragda 2018:29854428}" "" "c.4352+1G>A" "" "Unknown" "yes" "" "0" "" "" "g.94030427C>T" "" "pathogenic (recessive)" ""
"0000768797" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Smaragda 2018:29854428}" "" "p.Leu541Pro, p.Ala1038Val" "" "Unknown" "yes" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000768798" "3" "90" "1" "94476355" "94476355" "subst" "0" "01695" "ABCA4_001665" "g.94476355C>G" "" "{PMID:Smaragda 2018:29854428}" "" "c.5714+1G>C" "" "Unknown" "yes" "" "0" "" "" "g.94010799C>G" "" "pathogenic (recessive)" ""
"0000768799" "3" "90" "1" "94476355" "94476355" "subst" "0" "01695" "ABCA4_001665" "g.94476355C>G" "" "{PMID:Smaragda 2018:29854428}" "" "c.5714+1G>C" "" "Unknown" "" "" "0" "" "" "g.94010799C>G" "" "pathogenic (recessive)" ""
"0000768800" "0" "90" "1" "94526225" "94526237" "del" "0" "01695" "ABCA4_002059" "g.94526225_94526237del" "" "{PMID:Smaragda 2018:29854428}" "" "c.2019_2031del13 p.Ser673Argfs*6" "" "Unknown" "" "" "0" "" "" "g.94060669_94060681del" "" "pathogenic (recessive)" ""
"0000768801" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Smaragda 2018:29854428}" "" "c.5714+5G>A -" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000768802" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Smaragda 2018:29854428}" "" "c.5714+5G>A ?" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000768803" "3" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Smaragda 2018:29854428}" "" "c.5714+5G>A ?" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000768804" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Smaragda 2018:29854428}" "" "c.5714+5G>A ?" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000768805" "3" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Smaragda 2018:29854428}" "" "c.5714+5G>A ?" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000768806" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Smaragda 2018:29854428}" "" "c.5714+5G>A ?" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000768807" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Smaragda 2018:29854428}" "" "c.5714+5G>A ?" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000768808" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Smaragda 2018:29854428}" "" "c.5714+5G>A ?" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000768809" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Smaragda 2018:29854428}" "" "c.5714+5G>A ?" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000768810" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Smaragda 2018:29854428}" "" "c.5714+5G>A ?" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000768811" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Smaragda 2018:29854428}" "" "c.5714+5G>A ?" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000768812" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Smaragda 2018:29854428}" "" "c.5714+5G>A -" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000768813" "3" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Smaragda 2018:29854428}" "" "c.5714+5G>A ?" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000768814" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Smaragda 2018:29854428}" "" "c.5714+5G>A -" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000768815" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Smaragda 2018:29854428}" "" "c.5882G>A p.Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000768816" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Smaragda 2018:29854428}" "" "c.5882G>A p.Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000768817" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Smaragda 2018:29854428}" "" "c.5882G>A p.Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000768818" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Smaragda 2018:29854428}" "" "c.5882G>A p.Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000768819" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Smaragda 2018:29854428}" "" "c.5882G>A p.Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000768820" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Smaragda 2018:29854428}" "" "c.5882G>A p.Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000768821" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Smaragda 2018:29854428}" "" "c.5882G>A p.Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000768822" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Smaragda 2018:29854428}" "" "c.5882G>A p.Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000768823" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Smaragda 2018:29854428}" "" "c.5882G>A p.Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000768824" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Smaragda 2018:29854428}" "" "c.5882G>A p.Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000768825" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Smaragda 2018:29854428}" "" "c.5882G>A p.Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000768826" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Smaragda 2018:29854428}" "" "c.5882G>A p.Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000768827" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Smaragda 2018:29854428}" "" "c.5882G>A p.Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000768828" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Smaragda 2018:29854428}" "" "c.5882G>A p.Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000768829" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Smaragda 2018:29854428}" "" "c.5882G>A p.Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000768830" "3" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Smaragda 2018:29854428}" "" "c.1622T>C, c.3113C>T p.Leu541Pro, p.Ala1038Val" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000768831" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Smaragda 2018:29854428}" "" "c.1622T>C, c.3113C>T p.Leu541Pro, p.Ala1038Val" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000768832" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Smaragda 2018:29854428}" "" "c.1622T>C p.Leu541Pro" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000768833" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Smaragda 2018:29854428}" "" "c. 1622T>C, c.3113 C>T p.Leu541Pro, p.Ala1038Val" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000768834" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Smaragda 2018:29854428}" "" "c. 1622T>C, c.3113 C>T p.Leu541Pro, p.Ala1038Val" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000768835" "0" "50" "1" "94544977" "94544977" "subst" "0.000544432" "01695" "ABCA4_000332" "g.94544977A>T" "" "{PMID:Smaragda 2018:29854428}" "" "c.1140T>A p.Asn380Lys" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94079421A>T" "" "VUS" ""
"0000768836" "0" "70" "1" "94486896" "94486896" "subst" "3.65562E-5" "01695" "ABCA4_000085" "g.94486896G>A" "" "{PMID:Smaragda 2018:29854428}" "" "c.4918C>T p.Arg1640Trp" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94021340G>A" "" "likely pathogenic (recessive)" ""
"0000768837" "3" "90" "1" "94473278" "94473278" "del" "3.25908E-5" "01695" "ABCA4_000392" "g.94473278del" "" "{PMID:Smaragda 2018:29854428}" "" "c.5917delG p.Val1973*" "" "Unknown" "" "" "0" "" "" "g.94007722del" "" "pathogenic (recessive)" ""
"0000768838" "0" "90" "1" "94564549" "94564549" "subst" "0" "01695" "ABCA4_000199" "g.94564549T>A" "" "{PMID:Smaragda 2018:29854428}" "" "c.571-2A>T -" "" "Unknown" "" "" "0" "" "" "g.94098993T>A" "" "pathogenic (recessive)" ""
"0000768839" "0" "90" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Smaragda 2018:29854428}" "" "c.635C>T p.Arg212Cys" "" "Unknown" "" "" "0" "" "" "g.94098928G>A" "" "pathogenic (recessive)" ""
"0000768840" "0" "70" "1" "94586550" "94586550" "subst" "1.21864E-5" "01695" "ABCA4_000037" "g.94586550G>A" "" "{PMID:Smaragda 2018:29854428}" "" "c.52C>T p.Arg18Trp" "" "Unknown" "" "" "0" "" "" "g.94120994G>A" "" "likely pathogenic (recessive)" ""
"0000768841" "3" "90" "1" "94476355" "94476355" "subst" "0" "01695" "ABCA4_001665" "g.94476355C>G" "" "{PMID:Smaragda 2018:29854428}" "" "c.5714+1G>C ?" "" "Unknown" "" "" "0" "" "" "g.94010799C>G" "" "pathogenic (recessive)" ""
"0000768842" "0" "50" "1" "94564460" "94564460" "subst" "8.1355E-6" "01695" "ABCA4_000056" "g.94564460G>A" "" "{PMID:Smaragda 2018:29854428}" "" "c.658C>T p.Arg220Cys" "" "Unknown" "" "" "0" "" "" "g.94098904G>A" "" "VUS" ""
"0000768843" "0" "70" "1" "94506923" "94506923" "subst" "2.43657E-5" "01695" "ABCA4_000012" "g.94506923C>T" "" "{PMID:Smaragda 2018:29854428}" "" "c.3364G>A p.Glu1122Lys" "" "Unknown" "" "" "0" "" "" "g.94041367C>T" "" "likely pathogenic (recessive)" ""
"0000768844" "0" "90" "1" "94520855" "94520870" "del" "0" "01695" "ABCA4_000730" "g.94520855_94520870del" "" "{PMID:Smaragda 2018:29854428}" "" "c.2385_2400delCTTACTGTCTCCGGTG p.Ser795Argfs*43" "" "Unknown" "" "" "0" "" "" "g.94055299_94055314del" "" "pathogenic (recessive)" ""
"0000768845" "0" "90" "1" "94528251" "94528251" "subst" "2.84824E-5" "01695" "ABCA4_000281" "g.94528251C>T" "" "{PMID:Smaragda 2018:29854428}" "" "c.1819G>A p.Gly607Arg" "" "Unknown" "" "" "0" "" "" "g.94062695C>T" "" "pathogenic (recessive)" ""
"0000768846" "0" "70" "1" "94544235" "94544235" "subst" "0.0001137" "01695" "ABCA4_000939" "g.94544235G>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.1267C>T,p.His423Tyr" "" "Unknown" "" "" "0" "" "" "g.94078679G>A" "" "likely pathogenic (recessive)" ""
"0000768847" "0" "90" "1" "94526296" "94526296" "subst" "1.64555E-5" "01695" "ABCA4_000768" "g.94526296G>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.1957C>T,p.Arg653Cys" "" "Unknown" "" "" "0" "" "" "g.94060740G>A" "" "pathogenic (recessive)" ""
"0000768848" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Fujinami 2019:29925512}" "" "c.5461-10T>C, splicesite alteration" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000768849" "0" "70" "1" "94495177" "94495177" "subst" "1.22342E-5" "01695" "ABCA4_000023" "g.94495177A>G" "" "{PMID:Fujinami 2019:29925512}" "" "c.4363T>C,p.Cys1455Arg" "" "Unknown" "" "" "0" "" "" "g.94029621A>G" "" "likely pathogenic (recessive)" ""
"0000768850" "0" "90" "1" "94490606" "94490606" "subst" "4.06091E-6" "01695" "ABCA4_000086" "g.94490606T>C" "" "{PMID:Fujinami 2019:29925512}" "" "c.4540-2A>G, splicesite alteration" "" "Unknown" "" "" "0" "" "" "g.94025050T>C" "" "pathogenic (recessive)" ""
"0000768851" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Fujinami 2019:29925512}" "" "c.5461-10T>C, splicesite alteration" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000768852" "0" "90" "1" "94586601" "94586601" "subst" "8.12156E-6" "01695" "ABCA4_000264" "g.94586601T>C" "" "{PMID:Fujinami 2019:29925512}" "" "c.1A>G, p.Met1Val(splice site alteration)" "" "Unknown" "" "" "0" "" "" "g.94121045T>C" "" "pathogenic (recessive)" ""
"0000768853" "0" "50" "1" "94502756" "94502756" "subst" "0.000422575" "01695" "ABCA4_000032" "g.94502756G>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.3758C>T,p.Thr1253Met" "" "Unknown" "" "" "0" "" "" "g.94037200G>A" "" "VUS" ""
"0000768854" "0" "90" "1" "94510253" "94510253" "subst" "0.000247694" "01695" "ABCA4_000108" "g.94510253A>G" "" "{PMID:Fujinami 2019:29925512}" "" "c.2966T>C, p.Val989Ala" "" "Unknown" "" "" "0" "" "" "g.94044697A>G" "" "pathogenic (recessive)" ""
"0000768855" "0" "70" "1" "94512478" "94512478" "subst" "3.65871E-5" "01695" "ABCA4_000678" "g.94512478G>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.2915C>A,p.Thr972Asm" "" "Unknown" "" "" "0" "" "" "g.94046922G>T" "" "likely pathogenic (recessive)" ""
"0000768856" "0" "70" "1" "94520801" "94520801" "subst" "0.000211489" "01695" "ABCA4_000724" "g.94520801C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.2453G>A,p.Gly818Glu" "" "Unknown" "" "" "0" "" "" "g.94055245C>T" "" "likely pathogenic (recessive)" ""
"0000768857" "0" "70" "1" "94528143" "94528143" "subst" "0.00124448" "01695" "ABCA4_000076" "g.94528143C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.1927G>A,p.Val643Met" "" "Unknown" "" "" "0" "" "" "g.94062587C>T" "" "likely pathogenic (recessive)" ""
"0000768858" "0" "50" "1" "94520708" "94520708" "subst" "0.00102774" "01695" "ABCA4_000074" "g.94520708A>G" "" "{PMID:Fujinami 2019:29925512}" "" "c.2546T>C, p.Val849Ala" "" "Unknown" "" "" "0" "" "" "g.94055152A>G" "" "VUS" ""
"0000768859" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.3322C>T,p.Arg1108Cys" "" "Unknown" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000768860" "0" "90" "1" "94586601" "94586601" "subst" "8.12156E-6" "01695" "ABCA4_000264" "g.94586601T>C" "" "{PMID:Fujinami 2019:29925512}" "" "c.1A>G, p.Met1Val(splice site alteration)" "" "Unknown" "" "" "0" "" "" "g.94121045T>C" "" "pathogenic (recessive)" ""
"0000768861" "0" "90" "1" "94510248" "94510248" "subst" "0.000544123" "01695" "ABCA4_000107" "g.94510248C>G" "" "{PMID:Fujinami 2019:29925512}" "" "c.2971G>C,p.Gly991Arg" "" "Unknown" "" "" "0" "" "" "g.94044692C>G" "" "pathogenic (recessive)" ""
"0000768862" "0" "90" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.6320G>A,p.Arg2107His" "" "Unknown" "" "" "0" "" "" "g.94001068C>T" "" "pathogenic (recessive)" ""
"0000768863" "0" "90" "1" "94586586" "94586586" "subst" "0" "01695" "ABCA4_002255" "g.94586586G>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.16C>T, p.Gln6Ter" "" "Unknown" "" "" "0" "" "" "g.94121030G>A" "" "pathogenic (recessive)" ""
"0000768864" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.3322C>T,p.Arg1108Cys" "" "Unknown" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000768865" "0" "50" "1" "94517234" "94517234" "subst" "0" "01695" "ABCA4_000073" "g.94517234G>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.2608C>T,p.Pro870Ser" "" "Unknown" "" "" "0" "" "" "g.94051678G>A" "" "VUS" ""
"0000768866" "3" "70" "1" "94577013" "94577013" "subst" "0" "01695" "ABCA4_001325" "g.94577013A>G" "" "{PMID:Fujinami 2019:29925512}" "" "c.283T>C, p.Ser95Pro" "" "Unknown" "" "" "0" "" "" "g.94111457A>G" "" "likely pathogenic (recessive)" ""
"0000768867" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Fujinami 2019:29925512}" "" "c.2588G>C,p.Gly863Ala" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000768868" "0" "90" "1" "94568687" "94568687" "subst" "1.62641E-5" "01695" "ABCA4_000024" "g.94568687G>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.454C>T, p.Arg152Ter" "" "Unknown" "" "" "0" "" "" "g.94103131G>A" "" "pathogenic (recessive)" ""
"0000768869" "0" "90" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.634C>T, p.Arg212Cys" "" "Unknown" "" "" "0" "" "" "g.94098928G>A" "" "pathogenic (recessive)" ""
"0000768870" "0" "90" "1" "94496571" "94496571" "subst" "4.06174E-6" "01695" "ABCA4_000111" "g.94496571G>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.4234C>T,p.Gln1412Ter" "" "Unknown" "" "" "0" "" "" "g.94031015G>A" "" "pathogenic (recessive)" ""
"0000768871" "0" "90" "1" "94510253" "94510253" "subst" "0.000247694" "01695" "ABCA4_000108" "g.94510253A>G" "" "{PMID:Fujinami 2019:29925512}" "" "c.2966T>C, p.Val989Ala" "" "Unknown" "" "" "0" "" "" "g.94044697A>G" "" "pathogenic (recessive)" ""
"0000768872" "0" "90" "1" "94510235" "94510242" "del" "0" "01695" "ABCA4_000667" "g.94510235_94510242del" "" "{PMID:Fujinami 2019:29925512}" "" "c.2977_2984delGACATTGA,p.Asp993AsnfsTer27" "" "Unknown" "" "" "0" "" "" "g.94044679_94044686del" "" "pathogenic (recessive)" ""
"0000768873" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.5882G>A,p.Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000768874" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Fujinami 2019:29925512}" "" "c.2588G>C,p.Gly863Ala" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000768875" "0" "70" "1" "94546283" "94546283" "subst" "8.18311E-5" "01695" "ABCA4_000356" "g.94546283A>G" "" "{PMID:Fujinami 2019:29925512}" "" "c.859-9T>C, splice sitealteration" "" "Unknown" "" "" "0" "" "" "g.94080727A>G" "" "likely pathogenic (recessive)" ""
"0000768876" "0" "90" "1" "94576993" "94576993" "subst" "2.03513E-5" "01695" "ABCA4_000069" "g.94576993C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.302+1G>A, splice sitealteration" "" "Unknown" "" "" "0" "" "" "g.94111437C>T" "" "pathogenic (recessive)" ""
"0000768877" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.4139C>T,p.Pro1380Leu" "" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000768878" "0" "70" "1" "94496574" "94496574" "subst" "0" "01695" "ABCA4_001839" "g.94496574C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.4231G>A,p.Gly1411Arg" "" "Unknown" "" "" "0" "" "" "g.94031018C>T" "" "likely pathogenic (recessive)" ""
"0000768879" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.768G>T, p.Val256Val(splice site alteration)" "" "Unknown" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000768880" "0" "70" "1" "94528854" "94528854" "subst" "0" "01695" "ABCA4_002105" "g.94528854A>G" "" "{PMID:Fujinami 2019:29925512}" "" "c.1574T>C,p.Phe525Ser" "" "Unknown" "" "" "0" "" "" "g.94063298A>G" "" "likely pathogenic (recessive)" ""
"0000768881" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.4139C>T,p.Pro1380Leu" "" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000768882" "0" "90" "1" "94586601" "94586601" "subst" "8.12156E-6" "01695" "ABCA4_000264" "g.94586601T>C" "" "{PMID:Fujinami 2019:29925512}" "" "c.1A>G, p.Met1Val(splice site alteration)" "" "Unknown" "" "" "0" "" "" "g.94121045T>C" "" "pathogenic (recessive)" ""
"0000768883" "0" "50" "1" "94502756" "94502756" "subst" "0.000422575" "01695" "ABCA4_000032" "g.94502756G>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.3758C>T,p.Thr1253Met" "" "Unknown" "" "" "0" "" "" "g.94037200G>A" "" "VUS" ""
"0000768884" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.4139C>T,p.Pro1380Leu" "" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000768885" "0" "50" "1" "94486788" "94486788" "subst" "0.000735109" "01695" "ABCA4_000894" "g.94486788T>C" "" "{PMID:Fujinami 2019:29925512}" "" "c.5018+8A>G, possiblesplice site alteration" "" "Unknown" "" "" "0" "" "" "g.94021232T>C" "" "VUS" ""
"0000768886" "0" "90" "1" "94528251" "94528251" "subst" "2.84824E-5" "01695" "ABCA4_000281" "g.94528251C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.1819G>A,p.Gly607Arg" "" "Unknown" "" "" "0" "" "" "g.94062695C>T" "" "pathogenic (recessive)" ""
"0000768887" "0" "90" "1" "94528132" "94528132" "subst" "4.06835E-6" "01695" "ABCA4_000773" "g.94528132C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.1937+1G>A, splicesite alteration" "" "Unknown" "" "" "0" "" "" "g.94062576C>T" "" "pathogenic (recessive)" ""
"0000768888" "0" "50" "1" "94502756" "94502756" "subst" "0.000422575" "01695" "ABCA4_000032" "g.94502756G>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.3758C>T,p.Thr1253Met" "" "Unknown" "" "" "0" "" "" "g.94037200G>A" "" "VUS" ""
"0000768889" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Fujinami 2019:29925512}" "" "c.1622T>C,p.Leu541Pro" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000768890" "0" "90" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.634C>T, p.Arg212Cys" "" "Unknown" "" "" "0" "" "" "g.94098928G>A" "" "pathogenic (recessive)" ""
"0000768891" "0" "70" "1" "94577102" "94577102" "subst" "4.06161E-6" "01695" "ABCA4_000033" "g.94577102C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.194G>A, p.Gly65Glu" "" "Unknown" "" "" "0" "" "" "g.94111546C>T" "" "likely pathogenic (recessive)" ""
"0000768892" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.3322C>T,p.Arg1108Cys" "" "Unknown" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000768893" "0" "70" "1" "94577135" "94577135" "subst" "2.43718E-5" "01695" "ABCA4_000240" "g.94577135C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.161G>A, p.Cys54Tyr" "" "Unknown" "" "" "0" "" "" "g.94111579C>T" "" "likely pathogenic (recessive)" ""
"0000768894" "0" "50" "1" "94520853" "94520853" "subst" "8.14783E-6" "01695" "ABCA4_000729" "g.94520853C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.2401G>A, p.Ala801Thr" "" "Unknown" "" "" "0" "" "" "g.94055297C>T" "" "VUS" ""
"0000768895" "0" "70" "1" "94564500" "94564500" "subst" "0.00100414" "01695" "ABCA4_000069" "g.94564500G>C" "" "{PMID:Fujinami 2019:29925512}" "" "c.618C>G, p.Ser206Arg" "" "Unknown" "" "" "0" "" "" "g.94098944G>C" "" "likely pathogenic (recessive)" ""
"0000768896" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.3386G>T,p.Arg1129Leu" "" "Unknown" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000768897" "3" "90" "1" "94526212" "94526212" "subst" "1.22012E-5" "01695" "ABCA4_000075" "g.94526212G>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.2041C>T, p.Arg681Ter" "" "Unknown" "yes" "" "0" "" "" "g.94060656G>A" "" "pathogenic (recessive)" ""
"0000768898" "0" "70" "1" "94490567" "94490567" "subst" "5.68528E-5" "01695" "ABCA4_000026" "g.94490567G>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.4577C>T,p.Thr1526Met" "" "Unknown" "yes" "" "0" "" "" "g.94025011G>A" "" "likely pathogenic (recessive)" ""
"0000768899" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.3386G>T,p.Arg1129Leu" "" "Unknown" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000768900" "0" "10" "1" "94497563" "94497563" "subst" "0.00492504" "01695" "ABCA4_000090" "g.94497563C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.3899G>A,p.Arg1300Gln" "" "Unknown" "" "" "0" "" "" "g.94032007C>T" "" "benign" ""
"0000768901" "0" "70" "1" "94512525" "94512525" "subst" "0" "01695" "ABCA4_001984" "g.94512525G>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.2868C>A,p.Asn956Lys" "" "Unknown" "" "" "0" "" "" "g.94046969G>T" "" "likely pathogenic (recessive)" ""
"0000768902" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Fujinami 2019:29925512}" "" "c.1622T>C,p.Leu541Pro" "" "Unknown" "yes" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000768903" "3" "90" "1" "94473231" "94473234" "del" "0" "01695" "ABCA4_000387" "g.94473231_94473234del" "" "{PMID:Fujinami 2019:29925512}" "" "c.5961_5964delGGAC,p.Gly1987GlyfsTer4" "" "Unknown" "yes" "" "0" "" "" "g.94007675_94007678del" "" "pathogenic (recessive)" ""
"0000768904" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Fujinami 2019:29925512}" "" "c.1622T>C,p.Leu541Pro" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000768905" "3" "70" "1" "94471067" "94471067" "subst" "4.06237E-6" "01695" "ABCA4_001001" "g.94471067A>G" "" "{PMID:Fujinami 2019:29925512}" "" "c.6077T>C,p.Leu2026Pro" "" "Unknown" "yes" "" "0" "" "" "g.94005511A>G" "" "likely pathogenic (recessive)" ""
"0000768906" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.6079C>T,p.Leu2027Phe" "" "Unknown" "" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic (recessive)" ""
"0000768907" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.3322C>T,p.Arg1108Cys" "" "Unknown" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000768908" "0" "90" "1" "94495009" "94495009" "dup" "0" "01695" "ABCA4_000087" "g.94495009dup" "" "{PMID:Fujinami 2019:29925512}" "" "c.4537_4538insC,p.Pro1513GlnfsTer42" "" "Unknown" "" "" "0" "" "" "g.94029453dup" "" "pathogenic (recessive)" ""
"0000768909" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.3113C>T,p.Ala1038Val" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000768910" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.5882G>A,p.Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000768911" "0" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.4469G>A,p.Cys1490Tyr" "" "Unknown" "" "" "0" "" "" "g.94029515C>T" "" "likely pathogenic (recessive)" ""
"0000768912" "0" "90" "1" "94495983" "94495983" "subst" "0" "01695" "ABCA4_001822" "g.94495983C>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.4352+1G>T, splicesite alteration" "" "Unknown" "" "" "0" "" "" "g.94030427C>A" "" "pathogenic (recessive)" ""
"0000768913" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.4139C>T,p.Pro1380Leu" "" "Unknown" "yes" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000768914" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.5714+5G>A, splicesite alteration" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000768915" "0" "90" "1" "94528251" "94528251" "subst" "2.84824E-5" "01695" "ABCA4_000281" "g.94528251C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.1819G>A,p.Gly607Arg" "" "Unknown" "" "" "0" "" "" "g.94062695C>T" "" "pathogenic (recessive)" ""
"0000768916" "0" "90" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.634C>T, p.Arg212Cys" "" "Unknown" "" "" "0" "" "" "g.94098928G>A" "" "pathogenic (recessive)" ""
"0000768917" "0" "90" "1" "94487455" "94487455" "subst" "4.06128E-6" "01695" "ABCA4_000504" "g.94487455C>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.4720G>T,p.Glu1574Ter" "" "Unknown" "" "" "0" "" "" "g.94021899C>A" "" "pathogenic (recessive)" ""
"0000768918" "0" "90" "1" "94520690" "94520690" "subst" "2.03102E-5" "01695" "ABCA4_000149" "g.94520690C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.2564G>A,p.Trp855Ter" "" "Unknown" "" "" "0" "" "" "g.94055134C>T" "" "pathogenic (recessive)" ""
"0000768919" "0" "70" "1" "94486895" "94486895" "subst" "3.24923E-5" "01695" "ABCA4_000484" "g.94486895C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.4919G>A,p.Arg1640Gln" "" "Unknown" "" "" "0" "" "" "g.94021339C>T" "" "likely pathogenic (recessive)" ""
"0000768920" "0" "90" "1" "94520694" "94520694" "dup" "0" "01695" "ABCA4_002018" "g.94520694dup" "" "{PMID:Fujinami 2019:29925512}" "" "c.2560_2561insG,p.Ala854GlyfsTer5" "" "Unknown" "" "" "0" "" "" "g.94055138dup" "" "pathogenic (recessive)" ""
"0000768921" "0" "50" "1" "94528862" "94528862" "subst" "0" "01695" "ABCA4_002106" "g.94528862C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.1556G>A,p.Cys519Tyr" "" "Unknown" "" "" "0" "" "" "g.94063306C>T" "" "VUS" ""
"0000768922" "0" "50" "1" "94574152" "94574152" "subst" "4.06101E-6" "01695" "ABCA4_002209" "g.94574152A>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.423T>A, p.Thr141Thr" "" "Unknown" "" "" "0" "" "" "g.94108596A>T" "" "VUS" ""
"0000768923" "0" "90" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.634C>T, p.Arg212Cys" "" "Unknown" "" "" "0" "" "" "g.94098928G>A" "" "pathogenic (recessive)" ""
"0000768924" "0" "90" "1" "94486794" "94486794" "subst" "0" "01695" "ABCA4_000478" "g.94486794A>G" "" "{PMID:Fujinami 2019:29925512}" "" "c.5018+2T>C, splice sitealteration" "" "Unknown" "" "" "0" "" "" "g.94021238A>G" "" "pathogenic (recessive)" ""
"0000768925" "0" "70" "1" "94510271" "94510271" "subst" "0" "01695" "ABCA4_000670" "g.94510271G>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.2948C>T, p.Thr983Ile" "" "Unknown" "" "" "0" "" "" "g.94044715G>A" "" "likely pathogenic (recessive)" ""
"0000768926" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.5882G>A,p.Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000768927" "0" "50" "1" "94476495" "94476495" "subst" "0" "01695" "ABCA4_000424" "g.94476495A>G" "" "{PMID:Fujinami 2019:29925512}" "" "c.5585-10T>C, splicesite alteration" "" "Unknown" "" "" "0" "" "" "g.94010939A>G" "" "VUS" ""
"0000768928" "0" "90" "1" "94495009" "94495009" "dup" "0" "01695" "ABCA4_000087" "g.94495009dup" "" "{PMID:Fujinami 2019:29925512}" "" "c.4537_4538insC,p.Pro1513GlnfsTer42" "" "Unknown" "" "" "0" "" "" "g.94029453dup" "" "pathogenic (recessive)" ""
"0000768929" "0" "70" "1" "94509018" "94509018" "subst" "8.12869E-6" "01695" "ABCA4_000659" "g.94509018C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.3064G>A,p.Glu1022Lys" "" "Unknown" "" "" "0" "" "" "g.94043462C>T" "" "likely pathogenic (recessive)" ""
"0000768930" "3" "90" "1" "94526212" "94526212" "subst" "1.22012E-5" "01695" "ABCA4_000075" "g.94526212G>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.2041C>T, p.Arg681Ter" "" "Unknown" "" "" "0" "" "" "g.94060656G>A" "" "pathogenic (recessive)" ""
"0000768931" "0" "70" "1" "94546114" "94546114" "subst" "0" "01695" "ABCA4_000983" "g.94546114T>C" "" "{PMID:Fujinami 2019:29925512}" "" "c.1019AC" "" "likely pathogenic (recessive)" ""
"0000768932" "0" "90" "1" "94495009" "94495009" "dup" "0" "01695" "ABCA4_000087" "g.94495009dup" "" "{PMID:Fujinami 2019:29925512}" "" "c.4537_4538insC,p.Pro1513GlnfsTer42" "" "Unknown" "yes" "" "0" "" "" "g.94029453dup" "" "pathogenic (recessive)" ""
"0000768933" "0" "70" "1" "94546261" "94546261" "subst" "0.000648567" "01695" "ABCA4_000353" "g.94546261G>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.872C>T, p.Pro291Leu" "" "Unknown" "" "" "0" "" "" "g.94080705G>A" "" "likely pathogenic (recessive)" ""
"0000768934" "0" "70" "1" "94544916" "94544916" "subst" "0" "01695" "ABCA4_001033" "g.94544916T>G" "" "{PMID:Fujinami 2019:29925512}" "" "c.1201A>C,p.Thr401Pro" "" "Unknown" "" "" "0" "" "" "g.94079360T>G" "" "likely pathogenic (recessive)" ""
"0000768935" "0" "90" "1" "94546248" "94546248" "del" "2.03666E-5" "01695" "ABCA4_000352" "g.94546248del" "" "{PMID:Fujinami 2019:29925512}" "" "c.885delC,p.Asp295AspfsTer5" "" "Unknown" "" "" "0" "" "" "g.94080692del" "" "pathogenic (recessive)" ""
"0000768936" "0" "90" "1" "94486794" "94486794" "subst" "0" "01695" "ABCA4_000478" "g.94486794A>G" "" "{PMID:Fujinami 2019:29925512}" "" "c.5018+2T>C, splice sitealteration" "" "Unknown" "" "" "0" "" "" "g.94021238A>G" "" "pathogenic (recessive)" ""
"0000768937" "0" "70" "1" "94496583" "94496583" "subst" "2.03092E-5" "01695" "ABCA4_000190" "g.94496583A>G" "" "{PMID:Fujinami 2019:29925512}" "" "c.4222T>C,p.Trp1408Arg" "" "Unknown" "" "" "0" "" "" "g.94031027A>G" "" "likely pathogenic (recessive)" ""
"0000768938" "0" "90" "1" "94508435" "94508436" "dup" "0" "01695" "ABCA4_000998" "g.94508435_94508436dup" "" "{PMID:Fujinami 2019:29925512}" "" "c.3210_3211insGT,p.Ser1071CysfsTer14" "" "Unknown" "" "" "0" "" "" "g.94042879_94042880dup" "" "pathogenic (recessive)" ""
"0000768939" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.4139C>T,p.Pro1380Leu" "" "Unknown" "yes" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000768940" "0" "70" "1" "94495078" "94495078" "subst" "8.37044E-6" "01695" "ABCA4_000042" "g.94495078A>G" "" "{PMID:Fujinami 2019:29925512}" "" "c.4462T>C,p.Cys1488Arg" "" "Unknown" "" "" "0" "" "" "g.94029522A>G" "" "likely pathogenic (recessive)" ""
"0000768941" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Fujinami 2019:29925512}" "" "c.1622T>C,p.Leu541Pro" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000768942" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.3386G>T,p.Arg1129Leu" "" "Unknown" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000768943" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.5882G>A,p.Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000768944" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Fujinami 2019:29925512}" "" "c.5461-10T>C, splicesite alteration" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000768945" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Fujinami 2019:29925512}" "" "c.2588G>C,p.Gly863Ala" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000768946" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Fujinami 2019:29925512}" "" "c.5461-10T>C, splicesite alteration" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000768947" "0" "70" "1" "94508334" "94508334" "subst" "0" "01695" "ABCA4_001921" "g.94508334A>G" "" "{PMID:Fujinami 2019:29925512}" "" "c.3311T>C,p.Leu1104Pro" "" "Unknown" "" "" "0" "" "" "g.94042778A>G" "" "likely pathogenic (recessive)" ""
"0000768948" "0" "50" "1" "94546265" "94546265" "subst" "2.04063E-5" "01695" "ABCA4_000355" "g.94546265G>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.868C>T, p.Arg290Trp" "" "Unknown" "yes" "" "0" "" "" "g.94080709G>A" "" "VUS" ""
"0000768949" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.4139C>T,p.Pro1380Leu" "" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000768950" "0" "70" "1" "94577010" "94577010" "subst" "1.22004E-5" "01695" "ABCA4_000224" "g.94577010T>C" "" "{PMID:Fujinami 2019:29925512}" "" "c.286A>G, p.Asn96Asp" "" "Unknown" "" "" "0" "" "" "g.94111454T>C" "" "likely pathogenic (recessive)" ""
"0000768951" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.3386G>T,p.Arg1129Leu" "" "Unknown" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000768952" "0" "90" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Fujinami 2019:29925512}" "" "c.2894A>G,p.Asn965Ser" "" "Unknown" "" "" "0" "" "" "g.94046943T>C" "" "pathogenic (recessive)" ""
"0000768953" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.3322C>T,p.Arg1108Cys" "" "Unknown" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000768954" "0" "50" "1" "94476377" "94476377" "subst" "0.00160473" "01695" "ABCA4_000411" "g.94476377C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.5693G>A,p.Arg1898His" "" "Unknown" "" "" "0" "" "" "g.94010821C>T" "" "VUS" ""
"0000768955" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Fujinami 2019:29925512}" "" "c.2588G>C,p.Gly863Ala" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000768956" "0" "50" "1" "94486888" "94486888" "subst" "3.65548E-5" "01695" "ABCA4_000137" "g.94486888G>C" "" "{PMID:Fujinami 2019:29925512}" "" "c.4926C>G,p.Ser1642Arg" "" "Unknown" "" "" "0" "" "" "g.94021332G>C" "" "VUS" ""
"0000768957" "0" "90" "1" "94544185" "94544185" "subst" "8.12137E-6" "01695" "ABCA4_000177" "g.94544185C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.1317G>A,p.Trp439Ter" "" "Unknown" "" "" "0" "" "" "g.94078629C>T" "" "pathogenic (recessive)" ""
"0000768958" "0" "90" "1" "94577116" "94577116" "del" "0" "01695" "ABCA4_000236" "g.94577116del" "" "{PMID:Fujinami 2019:29925512}" "" "c.180delG,p.Ala60AlafsTer18" "" "Unknown" "" "" "0" "" "" "g.94111560del" "" "pathogenic (recessive)" ""
"0000768959" "0" "50" "1" "94486888" "94486888" "subst" "3.65548E-5" "01695" "ABCA4_000137" "g.94486888G>C" "" "{PMID:Fujinami 2019:29925512}" "" "c.4926C>G,p.Ser1642Arg" "" "Unknown" "" "" "0" "" "" "g.94021332G>C" "" "VUS" ""
"0000768960" "0" "90" "1" "94508455" "94508455" "subst" "8.12434E-6" "01695" "ABCA4_000649" "g.94508455C>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.3191-1G>T, splice sitealteration" "" "Unknown" "" "" "0" "" "" "g.94042899C>A" "" "pathogenic (recessive)" ""
"0000768961" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.5714+5G>A, splicesite alteration" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000768962" "0" "70" "1" "94510277" "94510277" "subst" "8.12123E-6" "01695" "ABCA4_000671" "g.94510277G>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.2942C>T,p.Pro981Leu" "" "Unknown" "" "" "0" "" "" "g.94044721G>A" "" "likely pathogenic (recessive)" ""
"0000768963" "0" "70" "1" "94512532" "94512532" "subst" "0" "01695" "ABCA4_000691" "g.94512532T>G" "" "{PMID:Fujinami 2019:29925512}" "" "c.2861A>C, p.Tyr954Ser" "" "Unknown" "" "" "0" "" "" "g.94046976T>G" "" "likely pathogenic (recessive)" ""
"0000768964" "0" "50" "1" "94568675" "94568675" "subst" "0.00146249" "01695" "ABCA4_000210" "g.94568675T>C" "" "{PMID:Fujinami 2019:29925512}" "" "c.466A>G, p.Ile156Val" "" "Unknown" "" "" "0" "" "" "g.94103119T>C" "" "VUS" ""
"0000768965" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Fujinami 2019:29925512}" "" "c.2588G>C,p.Gly863Ala" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000768966" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Fujinami 2019:29925512}" "" "c.2588G>C,p.Gly863Ala" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000768967" "0" "90" "1" "94526296" "94526296" "subst" "1.64555E-5" "01695" "ABCA4_000768" "g.94526296G>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.1957C>T,p.Arg653Cys" "" "Unknown" "" "" "0" "" "" "g.94060740G>A" "" "pathogenic (recessive)" ""
"0000768968" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Fujinami 2019:29925512}" "" "c.2588G>C,p.Gly863Ala" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000768969" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Fujinami 2019:29925512}" "" "c.5461-10T>C, splicesite alteration" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000768970" "0" "90" "1" "94526296" "94526296" "subst" "1.64555E-5" "01695" "ABCA4_000768" "g.94526296G>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.1957C>T,p.Arg653Cys" "" "Unknown" "" "" "0" "" "" "g.94060740G>A" "" "pathogenic (recessive)" ""
"0000768971" "0" "70" "1" "94528671" "94528671" "subst" "0" "01695" "ABCA4_001409" "g.94528671T>C" "" "{PMID:Fujinami 2019:29925512}" "" "c.1757A>G,p.Asp586Gly" "" "Unknown" "" "" "0" "" "" "g.94063115T>C" "" "likely pathogenic (recessive)" ""
"0000768972" "3" "70" "1" "94496583" "94496583" "subst" "2.03092E-5" "01695" "ABCA4_000190" "g.94496583A>G" "" "{PMID:Fujinami 2019:29925512}" "" "c.4222T>C,p.Trp1408Arg" "" "Unknown" "" "" "0" "" "" "g.94031027A>G" "" "likely pathogenic (recessive)" ""
"0000768973" "0" "70" "1" "94528702" "94528702" "subst" "1.62468E-5" "01695" "ABCA4_000293" "g.94528702C>G" "" "{PMID:Fujinami 2019:29925512}" "" "c.1726G>C,p.Asp576His" "" "Unknown" "" "" "0" "" "" "g.94063146C>G" "" "likely pathogenic (recessive)" ""
"0000768974" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.3322C>T,p.Arg1108Cys" "" "Unknown" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000768975" "0" "70" "1" "94471055" "94471055" "subst" "0.00035346" "01695" "ABCA4_000029" "g.94471055C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.6089G>A,p.Arg2030Gln" "" "Unknown" "" "" "0" "" "" "g.94005499C>T" "" "likely pathogenic (recessive)" ""
"0000768976" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.4139C>T,p.Pro1380Leu" "" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000768977" "0" "50" "1" "94564460" "94564460" "subst" "8.1355E-6" "01695" "ABCA4_000056" "g.94564460G>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.658C>T, p.Arg220Cys" "" "Unknown" "" "" "0" "" "" "g.94098904G>A" "" "VUS" ""
"0000768978" "0" "70" "1" "94546261" "94546261" "subst" "0.000648567" "01695" "ABCA4_000353" "g.94546261G>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.872C>T, p.Pro291Leu" "" "Unknown" "" "" "0" "" "" "g.94080705G>A" "" "likely pathogenic (recessive)" ""
"0000768979" "0" "70" "1" "94543269" "94543269" "subst" "0.000179087" "01695" "ABCA4_000307" "g.94543269G>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.1531C>T,p.Arg511Cys" "" "Unknown" "" "" "0" "" "" "g.94077713G>A" "" "likely pathogenic (recessive)" ""
"0000768980" "3" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.5882G>A,p.Gly1961Glu" "" "Unknown" "yes" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000768981" "0" "50" "1" "94543389" "94543389" "subst" "0.000861235" "01695" "ABCA4_000312" "g.94543389C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.1411G>A,p.Glu471Lys" "" "Unknown" "" "" "0" "" "" "g.94077833C>T" "" "VUS" ""
"0000768982" "0" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.4469G>A,p.Cys1490Tyr" "" "Unknown" "" "" "0" "" "" "g.94029515C>T" "" "likely pathogenic (recessive)" ""
"0000768983" "0" "70" "1" "94577135" "94577135" "subst" "2.43718E-5" "01695" "ABCA4_000240" "g.94577135C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.161G>A, p.Cys54Tyr" "" "Unknown" "" "" "0" "" "" "g.94111579C>T" "" "likely pathogenic (recessive)" ""
"0000768984" "0" "70" "1" "94508322" "94508322" "subst" "1.62513E-5" "01695" "ABCA4_000128" "g.94508322C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.3323G>A,p.Arg1108His" "" "Unknown" "" "" "0" "" "" "g.94042766C>T" "" "likely pathogenic (recessive)" ""
"0000768985" "0" "90" "1" "94528164" "94528164" "subst" "2.03336E-5" "01695" "ABCA4_000267" "g.94528164G>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.1906C>T, p.Gln636Ter" "" "Unknown" "" "" "0" "" "" "g.94062608G>A" "" "pathogenic (recessive)" ""
"0000768986" "0" "70" "1" "94528148" "94528148" "subst" "0" "01695" "ABCA4_000777" "g.94528148C>G" "" "{PMID:Fujinami 2019:29925512}" "" "c.1922G>C,p.Cys641Ser" "" "Unknown" "" "" "0" "" "" "g.94062592C>G" "" "likely pathogenic (recessive)" ""
"0000768987" "0" "70" "1" "94490592" "94490592" "subst" "0" "01695" "ABCA4_000527" "g.94490592T>G" "" "{PMID:Fujinami 2019:29925512}" "" "c.4552A>C,p.Ser1518Arg" "" "Unknown" "" "" "0" "" "" "g.94025036T>G" "" "likely pathogenic (recessive)" ""
"0000768988" "0" "70" "1" "94508322" "94508322" "subst" "1.62513E-5" "01695" "ABCA4_000128" "g.94508322C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.3323G>A,p.Arg1108His" "" "Unknown" "" "" "0" "" "" "g.94042766C>T" "" "likely pathogenic (recessive)" ""
"0000768989" "0" "90" "1" "94528668" "94528668" "subst" "0" "01695" "ABCA4_001313" "g.94528668C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.1760G>A,p.Arg587Lys(splice sitealteration)" "" "Unknown" "" "" "0" "" "" "g.94063112C>T" "" "pathogenic (recessive)" ""
"0000768990" "0" "90" "1" "94486794" "94486794" "subst" "0" "01695" "ABCA4_000478" "g.94486794A>G" "" "{PMID:Fujinami 2019:29925512}" "" "c.5018+2T>C, splice sitealteration" "" "Unknown" "" "" "0" "" "" "g.94021238A>G" "" "pathogenic (recessive)" ""
"0000768991" "0" "90" "1" "94528164" "94528164" "subst" "2.03336E-5" "01695" "ABCA4_000267" "g.94528164G>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.1906C>T, p.Gln636Ter" "" "Unknown" "" "" "0" "" "" "g.94062608G>A" "" "pathogenic (recessive)" ""
"0000768992" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.5882G>A,p.Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000768993" "0" "90" "1" "94510253" "94510253" "subst" "0.000247694" "01695" "ABCA4_000108" "g.94510253A>G" "" "{PMID:Fujinami 2019:29925512}" "" "c.2966T>C, p.Val989Ala" "" "Unknown" "" "" "0" "" "" "g.94044697A>G" "" "pathogenic (recessive)" ""
"0000768994" "3" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.5882G>A,p.Gly1961Glu" "" "Unknown" "yes" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000768995" "0" "70" "1" "94506923" "94506923" "subst" "2.43657E-5" "01695" "ABCA4_000012" "g.94506923C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.3364G>A,p.Glu1122Lys" "" "Unknown" "" "" "0" "" "" "g.94041367C>T" "" "likely pathogenic (recessive)" ""
"0000768996" "0" "90" "1" "94586581" "94586581" "dup" "0" "01695" "ABCA4_002253" "g.94586581dup" "" "{PMID:Fujinami 2019:29925512}" "" "c.21_22insA,p.Gln8ThrfsTer46" "" "Unknown" "" "" "0" "" "" "g.94121025dup" "" "pathogenic (recessive)" ""
"0000768997" "0" "50" "1" "94487436" "94487436" "subst" "2.03047E-5" "01695" "ABCA4_000498" "g.94487436A>G" "" "{PMID:Fujinami 2019:29925512}" "" "c.4739T>C, Leu1580Ser" "" "Unknown" "" "" "0" "" "" "g.94021880A>G" "" "VUS" ""
"0000768998" "0" "90" "1" "94574274" "94574274" "subst" "0" "01695" "ABCA4_002218" "g.94574274T>C" "" "{PMID:Fujinami 2019:29925512}" "" "c.303-2A>G,Spliceacceptor" "" "Unknown" "" "" "0" "" "" "g.94108718T>C" "" "pathogenic (recessive)" ""
"0000768999" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.5882G>A,p.Gly1961Glu" "" "Unknown" "yes" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000769000" "0" "90" "1" "94495009" "94495009" "dup" "0" "01695" "ABCA4_000087" "g.94495009dup" "" "{PMID:Fujinami 2019:29925512}" "" "c.4537_4538insC,p.Pro1513GlnfsTer42" "" "Unknown" "" "" "0" "" "" "g.94029453dup" "" "pathogenic (recessive)" ""
"0000769001" "0" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.4469G>A,p.Cys1490Tyr" "" "Unknown" "" "" "0" "" "" "g.94029515C>T" "" "likely pathogenic (recessive)" ""
"0000769002" "0" "90" "1" "94544185" "94544185" "subst" "8.12137E-6" "01695" "ABCA4_000177" "g.94544185C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.1317G>A,p.Trp439Ter" "" "Unknown" "" "" "0" "" "" "g.94078629C>T" "" "pathogenic (recessive)" ""
"0000769003" "3" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.5882G>A,p.Gly1961Glu" "" "Unknown" "yes" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000769004" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Fujinami 2019:29925512}" "" "c.2588G>C,p.Gly863Ala" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000769005" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.4139C>T,p.Pro1380Leu" "" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000769006" "0" "70" "1" "94520801" "94520801" "subst" "0.000211489" "01695" "ABCA4_000724" "g.94520801C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.2453G>A,p.Gly818Glu" "" "Unknown" "" "" "0" "" "" "g.94055245C>T" "" "likely pathogenic (recessive)" ""
"0000769007" "3" "70" "1" "94496548" "94496548" "subst" "2.43787E-5" "01695" "ABCA4_000088" "g.94496548G>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.4253+4C>T, splice sitealteration" "" "Unknown" "yes" "" "0" "" "" "g.94030992G>A" "" "likely pathogenic (recessive)" ""
"0000769008" "0" "90" "1" "94508353" "94508353" "subst" "2.8431E-5" "01695" "ABCA4_000141" "g.94508353G>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.3292C>T,p.Arg1098Cys" "" "Unknown" "" "" "0" "" "" "g.94042797G>A" "" "pathogenic (recessive)" ""
"0000769009" "0" "90" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.634C>T, p.Arg212Cys" "" "Unknown" "" "" "0" "" "" "g.94098928G>A" "" "pathogenic (recessive)" ""
"0000769010" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.3113C>T,p.Ala1038Val" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000769011" "0" "90" "1" "94473790" "94473790" "subst" "0" "01695" "ABCA4_000399" "g.94473790C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.5898+1G>A, splicesite alteration" "" "Unknown" "" "" "0" "" "" "g.94008234C>T" "" "pathogenic (recessive)" ""
"0000769012" "0" "90" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.634C>T, p.Arg212Cys" "" "Unknown" "" "" "0" "" "" "g.94098928G>A" "" "pathogenic (recessive)" ""
"0000769013" "0" "90" "1" "94485137" "94485137" "subst" "0" "01695" "ABCA4_000464" "g.94485137C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.5196+1G>A, splicesite alteration" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94019581C>T" "" "pathogenic (recessive)" ""
"0000769014" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.3322C>T,p.Arg1108Cys" "" "Unknown" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000769015" "0" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.4469G>A,p.Cys1490Tyr" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94029515C>T" "" "likely pathogenic (recessive)" ""
"0000769016" "0" "70" "1" "94508421" "94508421" "subst" "0" "01695" "ABCA4_001936" "g.94508421G>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.3224C>A,p.Ala1075Asp" "" "Unknown" "" "" "0" "" "" "g.94042865G>T" "" "likely pathogenic (recessive)" ""
"0000769017" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Fujinami 2019:29925512}" "" "c.2588G>C,p.Gly863Ala" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000769018" "0" "90" "1" "94564463" "94564463" "subst" "0" "01695" "ABCA4_000381" "g.94564463T>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.655A>T, p.Arg219Ter" "" "Unknown" "" "" "0" "" "" "g.94098907T>A" "" "pathogenic (recessive)" ""
"0000769019" "0" "90" "1" "94526091" "94526091" "subst" "0" "01695" "ABCA4_002052" "g.94526091A>C" "" "{PMID:Fujinami 2019:29925512}" "" "c.2160+2T>G, splicesite alteration" "" "Unknown" "" "" "0" "" "" "g.94060535A>C" "" "pathogenic (recessive)" ""
"0000769020" "0" "70" "1" "94463399" "94463413" "del" "0" "01695" "ABCA4_000851" "g.94463399_94463413del" "" "{PMID:Fujinami 2019:29925512}" "" "c.6729+5_19delGTTGGCCCTGGGGCA, splicesite alteration" "" "Unknown" "yes" "" "0" "" "" "g.93997843_93997857del" "" "likely pathogenic (recessive)" ""
"0000769021" "0" "90" "1" "94548932" "94548932" "del" "4.06587E-6" "01695" "ABCA4_001022" "g.94548932del" "" "{PMID:Fujinami 2019:29925512}" "" "c.834delT,p.Ser278SerfsTer22" "" "Unknown" "" "" "0" "" "" "g.94083376del" "" "pathogenic (recessive)" ""
"0000769022" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Fujinami 2019:29925512}" "" "c.5461-10T>C, splicesite alteration" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000769023" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.5882G>A,p.Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000769024" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.5714+5G>A, splicesite alteration" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000769025" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.3322C>T,p.Arg1108Cys" "" "Unknown" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000769026" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.4139C>T,p.Pro1380Leu" "" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000769027" "0" "70" "1" "94463399" "94463413" "del" "0" "01695" "ABCA4_000851" "g.94463399_94463413del" "" "{PMID:Fujinami 2019:29925512}" "" "c.6729+5_19delGTTGGCCCTGGGGCA, splicesite alteration" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.93997843_93997857del" "" "likely pathogenic (recessive)" ""
"0000769028" "0" "70" "1" "94506806" "94506806" "subst" "2.84278E-5" "01695" "ABCA4_001896" "g.94506806G>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.3481C>T,p.Arg1161Cys" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94041250G>A" "" "likely pathogenic (recessive)" ""
"0000769029" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Fujinami 2019:29925512}" "" "c.2588G>C,p.Gly863Ala" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000769030" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.5882G>A,p.Gly1961Glu" "" "Unknown" "yes" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000769031" "0" "70" "1" "94512481" "94512481" "subst" "4.06524E-6" "01695" "ABCA4_000679" "g.94512481G>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.2912C>A,p.Thr971Asn" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94046925G>T" "" "likely pathogenic (recessive)" ""
"0000769032" "0" "70" "1" "94546283" "94546283" "subst" "8.18311E-5" "01695" "ABCA4_000356" "g.94546283A>G" "" "{PMID:Fujinami 2019:29925512}" "" "c.859-9T>C, splice sitealteration" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94080727A>G" "" "likely pathogenic (recessive)" ""
"0000769033" "0" "90" "1" "94463434" "94463434" "subst" "0" "01695" "ABCA4_000856" "g.94463434G>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.6712C>T,p.Gln2238Ter" "" "Unknown" "" "" "0" "" "" "g.93997878G>A" "" "pathogenic (recessive)" ""
"0000769034" "0" "90" "1" "94466658" "94466658" "subst" "8.14817E-6" "01695" "ABCA4_000132" "g.94466658C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.6286G>A,p.Glu2096Lys" "" "Unknown" "" "" "0" "" "" "g.94001102C>T" "" "pathogenic (recessive)" ""
"0000769035" "0" "70" "1" "94544235" "94544235" "subst" "0.0001137" "01695" "ABCA4_000939" "g.94544235G>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.1267C>T,p.His423Tyr" "" "Unknown" "" "" "0" "" "" "g.94078679G>A" "" "likely pathogenic (recessive)" ""
"0000769036" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Fujinami 2019:29925512}" "" "c.1622T>C,p.Leu541Pro" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000769037" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Fujinami 2019:29925512}" "" "c.2588G>C,p.Gly863Ala" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000769038" "0" "90" "1" "94544185" "94544185" "subst" "8.12137E-6" "01695" "ABCA4_000177" "g.94544185C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.1317G>A,p.Trp439Ter" "" "Unknown" "" "" "0" "" "" "g.94078629C>T" "" "pathogenic (recessive)" ""
"0000769039" "0" "70" "1" "94506923" "94506923" "subst" "2.43657E-5" "01695" "ABCA4_000012" "g.94506923C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.3364G>A,p.Glu1122Lys" "" "Unknown" "" "" "0" "" "" "g.94041367C>T" "" "likely pathogenic (recessive)" ""
"0000769040" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Fujinami 2019:29925512}" "" "c.2588G>C,p.Gly863Ala" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000769041" "0" "90" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.634C>T, p.Arg212Cys" "" "Unknown" "" "" "0" "" "" "g.94098928G>A" "" "pathogenic (recessive)" ""
"0000769042" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.3113C>T,p.Ala1038Val" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000769043" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Fujinami 2019:29925512}" "" "c.5461-10T>C, splicesite alteration" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000769044" "0" "70" "1" "94528780" "94528780" "subst" "4.06171E-6" "01695" "ABCA4_000299" "g.94528780C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.1648G>A,p.Gly550Arg" "" "Unknown" "" "" "0" "" "" "g.94063224C>T" "" "likely pathogenic (recessive)" ""
"0000769045" "0" "70" "1" "94528854" "94528854" "subst" "0" "01695" "ABCA4_002105" "g.94528854A>G" "" "{PMID:Fujinami 2019:29925512}" "" "c.1574T>C,p.Phe525Ser" "" "Unknown" "" "" "0" "" "" "g.94063298A>G" "" "likely pathogenic (recessive)" ""
"0000769046" "0" "90" "1" "94577136" "94577136" "subst" "0" "01695" "ABCA4_000116" "g.94577136C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.161-1G>A, splice sitealteration" "" "Unknown" "yes" "" "0" "" "" "g.94111580C>T" "" "pathogenic (recessive)" ""
"0000769047" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Fujinami 2019:29925512}" "" "c.1622T>C,p.Leu541Pro" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000769048" "0" "70" "1" "94577113" "94577113" "subst" "4.06141E-6" "01695" "ABCA4_002232" "g.94577113C>G" "" "{PMID:Fujinami 2019:29925512}" "" "c.183G>C, p.Met61Ile" "" "Unknown" "" "" "0" "" "" "g.94111557C>G" "" "likely pathogenic (recessive)" ""
"0000769049" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Fujinami 2019:29925512}" "" "c.1622T>C,p.Leu541Pro" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000769050" "0" "90" "1" "94488946" "94488947" "del" "0" "01695" "ABCA4_001774" "g.94488946_94488947del" "" "{PMID:Fujinami 2019:29925512}" "" "c.4663_4664delCA,p.Gln1555GlufsTer41" "" "Unknown" "" "" "0" "" "" "g.94023390_94023391del" "" "pathogenic (recessive)" ""
"0000769051" "0" "90" "1" "94564548" "94564548" "subst" "0" "01695" "ABCA4_000197" "g.94564548C>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.571-1G>T, splice sitealteration" "" "Unknown" "yes" "" "0" "" "" "g.94098992C>A" "" "pathogenic (recessive)" ""
"0000769052" "0" "70" "1" "94502811" "94502811" "subst" "0" "01695" "ABCA4_001877" "g.94502811T>C" "" "{PMID:Fujinami 2019:29925512}" "" "c.3703A>G,p.Asn1235Asp" "" "Unknown" "" "" "0" "" "" "g.94037255T>C" "" "likely pathogenic (recessive)" ""
"0000769053" "0" "70" "1" "94485197" "94485197" "subst" "1.23624E-5" "01695" "ABCA4_001496" "g.94485197G>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.5137C>A,p.Gln1713Lys" "" "Unknown" "" "" "0" "" "" "g.94019641G>T" "" "likely pathogenic (recessive)" ""
"0000769054" "0" "90" "1" "94508435" "94508436" "dup" "0" "01695" "ABCA4_000998" "g.94508435_94508436dup" "" "{PMID:Fujinami 2019:29925512}" "" "c.3210_3211insGT,p.Ser1071CysfsTer14" "" "Unknown" "" "" "0" "" "" "g.94042879_94042880dup" "" "pathogenic (recessive)" ""
"0000769055" "0" "70" "1" "94528780" "94528780" "subst" "4.06171E-6" "01695" "ABCA4_000299" "g.94528780C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.1648G>A,p.Gly550Arg" "" "Unknown" "" "" "0" "" "" "g.94063224C>T" "" "likely pathogenic (recessive)" ""
"0000769056" "0" "70" "1" "94481319" "94481319" "subst" "0" "01695" "ABCA4_000454" "g.94481319A>G" "" "{PMID:Fujinami 2019:29925512}" "" "c.5288T>C,p.Leu1763Pro" "" "Unknown" "" "" "0" "" "" "g.94015763A>G" "" "likely pathogenic (recessive)" ""
"0000769057" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Fujinami 2019:29925512}" "" "c.2588G>C,p.Gly863Ala" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000769058" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Fujinami 2019:29925512}" "" "c.1622T>C,p.Leu541Pro" "" "Unknown" "yes" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000769059" "0" "90" "1" "94510253" "94510253" "subst" "0.000247694" "01695" "ABCA4_000108" "g.94510253A>G" "" "{PMID:Fujinami 2019:29925512}" "" "c.2966T>C, p.Val989Ala" "" "Unknown" "" "" "0" "" "" "g.94044697A>G" "" "pathogenic (recessive)" ""
"0000769060" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.3113C>T,p.Ala1038Val" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000769061" "0" "70" "1" "94546099" "94546099" "subst" "0" "01695" "ABCA4_001389" "g.94546099T>C" "" "{PMID:Fujinami 2019:29925512}" "" "c.1034A>G,p.Tyr345Cys" "" "Unknown" "" "" "0" "" "" "g.94080543T>C" "" "likely pathogenic (recessive)" ""
"0000769062" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.5882G>A,p.Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000769063" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Fujinami 2019:29925512}" "" "c.5461-10T>C, splicesite alteration" "no variant 2nd chromosome" "Unknown" "yes" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000769064" "0" "50" "1" "94528774" "94528774" "subst" "0.00264827" "01695" "ABCA4_000298" "g.94528774C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.1654G>A, p.Val552Ile" "" "Unknown" "" "" "0" "" "" "g.94063218C>T" "" "VUS" ""
"0000769065" "0" "50" "1" "94568686" "94568686" "subst" "0.00258122" "01695" "ABCA4_000212" "g.94568686C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.455G>A, p.Arg152Gln" "" "Unknown" "" "" "0" "" "" "g.94103130C>T" "" "VUS" ""
"0000769066" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Fujinami 2019:29925512}" "" "c.5461-10T>C, splicesite alteration" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000769067" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.3322C>T,p.Arg1108Cys" "" "Unknown" "yes" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000769068" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.5714+5G>A, splicesite alteration" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000769069" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Fujinami 2019:29925512}" "" "c.5461-10T>C, splicesite alteration" "" "Unknown" "yes" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000769070" "0" "50" "1" "94526289" "94526289" "subst" "0.000417202" "01695" "ABCA4_000767" "g.94526289A>C" "" "{PMID:Fujinami 2019:29925512}" "" "c.1964T>G,p.Phe655Cys" "" "Unknown" "yes" "" "0" "" "" "g.94060733A>C" "" "VUS" ""
"0000769071" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Fujinami 2019:29925512}" "" "c.5461-10T>C, splicesite alteration" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000769072" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Fujinami 2019:29925512}" "" "c.1622T>C,p.Leu541Pro" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000769073" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Fujinami 2019:29925512}" "" "c.2588G>C,p.Gly863Ala" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000769074" "3" "70" "1" "94471032" "94471032" "subst" "1.62553E-5" "01695" "ABCA4_000792" "g.94471032G>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.6112C>T,p.Arg2038Trp" "" "Unknown" "" "" "0" "" "" "g.94005476G>A" "" "likely pathogenic (recessive)" ""
"0000769075" "0" "70" "1" "94577102" "94577102" "subst" "4.06161E-6" "01695" "ABCA4_000033" "g.94577102C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.194G>A, p.Gly65Glu" "" "Unknown" "" "" "0" "" "" "g.94111546C>T" "" "likely pathogenic (recessive)" ""
"0000769076" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Fujinami 2019:29925512}" "" "c.1622T>C,p.Leu541Pro" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000769077" "0" "70" "1" "94577113" "94577113" "subst" "4.06141E-6" "01695" "ABCA4_002232" "g.94577113C>G" "" "{PMID:Fujinami 2019:29925512}" "" "c.183G>C, p.Met61Ile" "" "Unknown" "yes" "" "0" "" "" "g.94111557C>G" "" "likely pathogenic (recessive)" ""
"0000769078" "3" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.5714+5G>A, splicesite alteration" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000769079" "0" "90" "1" "94564549" "94564549" "subst" "0" "01695" "ABCA4_000199" "g.94564549T>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.571-2A>T, splice sitealteration" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94098993T>A" "" "pathogenic (recessive)" ""
"0000769080" "0" "70" "1" "94496023" "94496023" "subst" "0" "01695" "ABCA4_001828" "g.94496023G>C" "" "{PMID:Fujinami 2019:29925512}" "" "c.4313C>G,p.Pro1438Arg" "" "Unknown" "" "" "0" "" "" "g.94030467G>C" "" "likely pathogenic (recessive)" ""
"0000769081" "0" "90" "1" "94586557" "94586557" "subst" "4.06134E-6" "01695" "ABCA4_000259" "g.94586557C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.45G>A, p.Trp15Ter" "" "Unknown" "" "" "0" "" "" "g.94121001C>T" "" "pathogenic (recessive)" ""
"0000769082" "0" "90" "1" "94528251" "94528251" "subst" "2.84824E-5" "01695" "ABCA4_000281" "g.94528251C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.1819G>A,p.Gly607Arg" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94062695C>T" "" "pathogenic (recessive)" ""
"0000769083" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Fujinami 2019:29925512}" "" "c.2588G>C,p.Gly863Ala" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000769084" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.5882G>A,p.Gly1961Glu" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000769085" "0" "90" "1" "94526212" "94526212" "subst" "1.22012E-5" "01695" "ABCA4_000075" "g.94526212G>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.2041C>T, p.Arg681Ter" "" "Unknown" "" "" "0" "" "" "g.94060656G>A" "" "pathogenic (recessive)" ""
"0000769086" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Fujinami 2019:29925512}" "" "c.5461-10T>C, splicesite alteration" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000769087" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.5882G>A,p.Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000769088" "0" "50" "1" "94526230" "94526230" "subst" "7.32136E-5" "01695" "ABCA4_000760" "g.94526230C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.2023G>A, p.Val675Ile" "" "Unknown" "" "" "0" "" "" "g.94060674C>T" "" "VUS" ""
"0000769089" "0" "50" "1" "94463425" "94463425" "subst" "0.000109787" "01695" "ABCA4_000853" "g.94463425G>C" "" "{PMID:Fujinami 2019:29925512}" "" "c.6721C>G,p.Leu2241Val" "" "Unknown" "" "" "0" "" "" "g.93997869G>C" "" "VUS" ""
"0000769090" "0" "70" "1" "94546111" "94546111" "subst" "0" "01695" "ABCA4_000340" "g.94546111T>C" "" "{PMID:Fujinami 2019:29925512}" "" "c.1022A>G,p.Glu341Gly" "" "Unknown" "" "" "0" "" "" "g.94080555T>C" "" "likely pathogenic (recessive)" ""
"0000769091" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Fujinami 2019:29925512}" "" "c.1622T>C,p.Leu541Pro" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000769092" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Fujinami 2019:29925512}" "" "c.5461-10T>C, splicesite alteration" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000769093" "0" "50" "1" "94512589" "94512589" "subst" "4.06184E-6" "01695" "ABCA4_000696" "g.94512589A>G" "" "{PMID:Fujinami 2019:29925512}" "" "c.2804T>C, p.Val935Ala" "" "Unknown" "" "" "0" "" "" "g.94047033A>G" "" "VUS" ""
"0000769094" "0" "70" "1" "94486895" "94486895" "subst" "3.24923E-5" "01695" "ABCA4_000484" "g.94486895C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.4919G>A,p.Arg1640Gln" "" "Unknown" "" "" "0" "" "" "g.94021339C>T" "" "likely pathogenic (recessive)" ""
"0000769095" "0" "90" "1" "94568687" "94568687" "subst" "1.62641E-5" "01695" "ABCA4_000024" "g.94568687G>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.454C>T, p.Arg152Ter" "" "Unknown" "" "" "0" "" "" "g.94103131G>A" "" "pathogenic (recessive)" ""
"0000769096" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Fujinami 2019:29925512}" "" "c.2588G>C,p.Gly863Ala" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000769097" "0" "70" "1" "94506923" "94506923" "subst" "2.43657E-5" "01695" "ABCA4_000012" "g.94506923C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.3364G>A,p.Glu1122Lys" "" "Unknown" "" "" "0" "" "" "g.94041367C>T" "" "likely pathogenic (recessive)" ""
"0000769098" "0" "90" "1" "94495009" "94495009" "dup" "0" "01695" "ABCA4_000087" "g.94495009dup" "" "{PMID:Fujinami 2019:29925512}" "" "c.4530_4531insC,p.Pro1511ProfsTer44" "" "Unknown" "" "" "0" "" "" "g.94029453dup" "" "pathogenic (recessive)" ""
"0000769099" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.768G>T, p.Val256Val(splice site alteration)" "" "Unknown" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000769100" "0" "50" "1" "94564460" "94564460" "subst" "8.1355E-6" "01695" "ABCA4_000056" "g.94564460G>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.658C>T, p.Arg220Cys" "" "Unknown" "" "" "0" "" "" "g.94098904G>A" "" "VUS" ""
"0000769101" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Fujinami 2019:29925512}" "" "c.2588G>C,p.Gly863Ala" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000769102" "0" "90" "1" "94568687" "94568687" "subst" "1.62641E-5" "01695" "ABCA4_000024" "g.94568687G>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.454C>T, p.Arg152Ter" "" "Unknown" "" "" "0" "" "" "g.94103131G>A" "" "pathogenic (recessive)" ""
"0000769103" "0" "70" "1" "94520793" "94520793" "subst" "8.13292E-6" "01695" "ABCA4_000723" "g.94520793A>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.2461T>A, p.Trp821Arg" "" "Unknown" "" "" "0" "" "" "g.94055237A>T" "" "likely pathogenic (recessive)" ""
"0000769104" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.4139C>T,p.Pro1380Leu" "" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000769105" "0" "70" "1" "94490567" "94490567" "subst" "5.68528E-5" "01695" "ABCA4_000026" "g.94490567G>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.4577C>T,p.Thr1526Met" "" "Unknown" "" "" "0" "" "" "g.94025011G>A" "" "likely pathogenic (recessive)" ""
"0000769106" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.768G>T, p.Val256Val(splice site alteration)" "" "Unknown" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000769107" "0" "70" "1" "94548907" "94548998" "" "0" "01695" "ABCA4_002593" "g.(94546275_94548907)_(94548998_94564349)del" "" "{PMID:Fujinami 2019:29925512}" "" "exon7del, large exonicdeletion" "" "Unknown" "" "" "0" "" "" "g.(94080719_94083351)_(94083442_94098793)del" "" "likely pathogenic (recessive)" ""
"0000769108" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.3386G>T,p.Arg1129Leu" "" "Unknown" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000769109" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Fujinami 2019:29925512}" "" "c.2588G>C,p.Gly863Ala" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000769110" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Fujinami 2019:29925512}" "" "c.1622T>C,p.Leu541Pro" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000769111" "0" "90" "1" "94520690" "94520690" "subst" "2.03102E-5" "01695" "ABCA4_000149" "g.94520690C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.2564G>A,p.Trp855Ter" "" "Unknown" "" "" "0" "" "" "g.94055134C>T" "" "pathogenic (recessive)" ""
"0000769112" "0" "90" "1" "94526247" "94526248" "del" "0" "01695" "ABCA4_000761" "g.94526247_94526248del" "" "{PMID:Fujinami 2019:29925512}" "" "c.2005_2006delAT,p.Met669AspfsTer96" "" "Unknown" "" "" "0" "" "" "g.94060691_94060692del" "" "pathogenic (recessive)" ""
"0000769113" "0" "70" "1" "94496583" "94496583" "subst" "2.03092E-5" "01695" "ABCA4_000190" "g.94496583A>G" "" "{PMID:Fujinami 2019:29925512}" "" "c.4222T>C,p.Trp1408Arg" "" "Unknown" "" "" "0" "" "" "g.94031027A>G" "" "likely pathogenic (recessive)" ""
"0000769114" "0" "90" "1" "94509026" "94509026" "subst" "4.06497E-5" "01695" "ABCA4_000660" "g.94509026G>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.3056C>T,p.Thr1019Met" "" "Unknown" "" "" "0" "" "" "g.94043470G>A" "" "pathogenic (recessive)" ""
"0000769115" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Fujinami 2019:29925512}" "" "c.2588G>C,p.Gly863Ala" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000769116" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Fujinami 2019:29925512}" "" "c.2588G>C,p.Gly863Ala" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000769117" "0" "10" "1" "94505604" "94505604" "subst" "0.00645586" "01695" "ABCA4_000092" "g.94505604A>C" "" "{PMID:Fujinami 2019:29925512}" "" "c.3602T>G,p.Leu1201Arg" "" "Unknown" "" "" "0" "" "" "g.94040048A>C" "" "benign" ""
"0000769118" "0" "90" "1" "94510248" "94510248" "subst" "0.000544123" "01695" "ABCA4_000107" "g.94510248C>G" "" "{PMID:Fujinami 2019:29925512}" "" "c.2971G>C,p.Gly991Arg" "" "Unknown" "" "" "0" "" "" "g.94044692C>G" "" "pathogenic (recessive)" ""
"0000769119" "0" "70" "1" "94496583" "94496583" "subst" "2.03092E-5" "01695" "ABCA4_000190" "g.94496583A>G" "" "{PMID:Fujinami 2019:29925512}" "" "c.4222T>C,p.Trp1408Arg" "" "Unknown" "" "" "0" "" "" "g.94031027A>G" "" "likely pathogenic (recessive)" ""
"0000769120" "0" "70" "1" "94528143" "94528143" "subst" "0.00124448" "01695" "ABCA4_000076" "g.94528143C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.1927G>A,p.Val643Met" "" "Unknown" "" "" "0" "" "" "g.94062587C>T" "" "likely pathogenic (recessive)" ""
"0000769121" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Fujinami 2019:29925512}" "" "c.2588G>C,p.Gly863Ala" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000769122" "0" "70" "1" "94490567" "94490567" "subst" "5.68528E-5" "01695" "ABCA4_000026" "g.94490567G>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.4577C>T,p.Thr1526Met" "" "Unknown" "" "" "0" "" "" "g.94025011G>A" "" "likely pathogenic (recessive)" ""
"0000769123" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.4139C>T,p.Pro1380Leu" "" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000769124" "0" "70" "1" "94546118" "94546118" "subst" "8.13326E-6" "01695" "ABCA4_000082" "g.94546118A>C" "" "{PMID:Fujinami 2019:29925512}" "" "c.1015T>G, p.Trp339Gly" "" "Unknown" "" "" "0" "" "" "g.94080562A>C" "" "likely pathogenic (recessive)" ""
"0000769125" "0" "70" "1" "94528713" "94528713" "subst" "4.87381E-5" "01695" "ABCA4_000072" "g.94528713C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.1715G>A,p.Arg572Gln" "" "Unknown" "" "" "0" "" "" "g.94063157C>T" "" "likely pathogenic (recessive)" ""
"0000769126" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.3386G>T,p.Arg1129Leu" "" "Unknown" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000769127" "0" "70" "1" "94486895" "94486895" "subst" "3.24923E-5" "01695" "ABCA4_000484" "g.94486895C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.4919G>A,p.Arg1640Gln" "" "Unknown" "" "" "0" "" "" "g.94021339C>T" "" "likely pathogenic (recessive)" ""
"0000769128" "0" "90" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.634C>T, p.Arg212Cys" "" "Unknown" "" "" "0" "" "" "g.94098928G>A" "" "pathogenic (recessive)" ""
"0000769129" "0" "10" "1" "94505604" "94505604" "subst" "0.00645586" "01695" "ABCA4_000092" "g.94505604A>C" "" "{PMID:Fujinami 2019:29925512}" "" "c.3602T>G,p.Leu1201Arg" "" "Unknown" "" "" "0" "" "" "g.94040048A>C" "" "benign" ""
"0000769130" "0" "50" "1" "94480164" "94480164" "subst" "0" "01695" "ABCA4_000440" "g.94480164T>C" "" "{PMID:Fujinami 2019:29925512}" "" "c.5395A>G,p.Asn1799Asp" "" "Unknown" "" "" "0" "" "" "g.94014608T>C" "" "VUS" ""
"0000769131" "0" "50" "1" "94512574" "94512574" "subst" "0.00025589" "01695" "ABCA4_000694" "g.94512574G>C" "" "{PMID:Fujinami 2019:29925512}" "" "c.2819C>G,p.Pro940Arg" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94047018G>C" "" "VUS" ""
"0000769132" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.768G>T, p.Val256Val(splice site alteration)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000769133" "0" "70" "1" "94543271" "94543271" "subst" "0" "01695" "ABCA4_001507" "g.94543271A>G" "" "{PMID:Fujinami 2019:29925512}" "" "c.1529T>C,p.Leu510Pro" "" "Unknown" "" "" "0" "" "" "g.94077715A>G" "" "likely pathogenic (recessive)" ""
"0000769134" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.5882G>A,p.Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000769135" "0" "50" "1" "94487404" "94487404" "subst" "0.00244055" "01695" "ABCA4_000497" "g.94487404C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.4771G>A,p.Gly591Arg" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94021848C>T" "" "VUS" ""
"0000769136" "0" "90" "1" "94578623" "94578623" "subst" "0" "01695" "ABCA4_001481" "g.94578623C>G" "" "{PMID:Fujinami 2019:29925512}" "" "c.67-1G>C, splice sitealteration" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94113067C>G" "" "pathogenic (recessive)" ""
"0000769137" "0" "90" "1" "94485137" "94485137" "subst" "0" "01695" "ABCA4_000464" "g.94485137C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.5196+1G>A,Splicedonor" "" "Unknown" "" "" "0" "" "" "g.94019581C>T" "" "pathogenic (recessive)" ""
"0000769138" "0" "70" "1" "94528818" "94528818" "subst" "0.00205975" "01695" "ABCA4_001239" "g.94528818C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.1610G>A,p.Arg537His" "" "Unknown" "" "" "0" "" "" "g.94063262C>T" "" "likely pathogenic (recessive)" ""
"0000769139" "0" "70" "1" "94586570" "94586570" "subst" "4.06101E-6" "01695" "ABCA4_000154" "g.94586570A>G" "" "{PMID:Fujinami 2019:29925512}" "" "c.32T>C, p.Leu11Pro" "" "Unknown" "yes" "" "0" "" "" "g.94121014A>G" "" "likely pathogenic (recessive)" ""
"0000769140" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.768G>T, p.Val256Val(splice site alteration)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000769141" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Fujinami 2019:29925512}" "" "c.2588G>C,p.Gly863Ala" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000769142" "0" "70" "1" "94495002" "94495002" "subst" "0" "01695" "ABCA4_000533" "g.94495002T>C" "" "{PMID:Fujinami 2019:29925512}" "" "c.4538A>G,p.Gln1513Arg (splicesite alteration)" "" "Unknown" "" "" "0" "" "" "g.94029446T>C" "" "likely pathogenic (recessive)" ""
"0000769143" "0" "70" "1" "94528780" "94528780" "subst" "4.06171E-6" "01695" "ABCA4_000299" "g.94528780C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.1648G>A,p.Gly550Arg" "" "Unknown" "" "" "0" "" "" "g.94063224C>T" "" "likely pathogenic (recessive)" ""
"0000769144" "0" "70" "1" "94506898" "94506898" "subst" "0" "01695" "ABCA4_001904" "g.94506898A>G" "" "{PMID:Fujinami 2019:29925512}" "" "c.3389T>C,p.Ile1130Thr" "" "Unknown" "" "" "0" "" "" "g.94041342A>G" "" "likely pathogenic (recessive)" ""
"0000769145" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Fujinami 2019:29925512}" "" "c.1622T>C,p.Leu541Pro" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000769146" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Fujinami 2019:29925512}" "" "c.1622T>C,p.Leu541Pro" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000769147" "0" "70" "1" "94506923" "94506923" "subst" "2.43657E-5" "01695" "ABCA4_000012" "g.94506923C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.3364G>A,p.Glu1122Lys" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94041367C>T" "" "likely pathogenic (recessive)" ""
"0000769148" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Fujinami 2019:29925512}" "" "c.2588G>C,p.Gly863Ala" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000769149" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.3322C>T,p.Arg1108Cys" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000769150" "0" "70" "1" "94506902" "94506902" "subst" "1.21834E-5" "01695" "ABCA4_000623" "g.94506902G>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.3385C>T,p.Arg1129Cys" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94041346G>A" "" "likely pathogenic (recessive)" ""
"0000769151" "0" "90" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Fujinami 2019:29925512}" "" "c.2894A>G,p.Asn965Ser" "" "Unknown" "" "" "0" "" "" "g.94046943T>C" "" "pathogenic (recessive)" ""
"0000769152" "0" "70" "1" "94496548" "94496548" "subst" "2.43787E-5" "01695" "ABCA4_000088" "g.94496548G>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.4253+4C>T, splice sitealteration" "" "Unknown" "" "" "0" "" "" "g.94030992G>A" "" "likely pathogenic (recessive)" ""
"0000769153" "0" "50" "1" "94578524" "94578524" "subst" "0" "01695" "ABCA4_002237" "g.94578524C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.160+5G>A, splice sitealteration" "" "Unknown" "" "" "0" "" "" "g.94112968C>T" "" "VUS" ""
"0000769154" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Fujinami 2019:29925512}" "" "c.2588G>C,p.Gly863Ala" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000769155" "0" "70" "1" "94543271" "94543271" "subst" "0" "01695" "ABCA4_001507" "g.94543271A>G" "" "{PMID:Fujinami 2019:29925512}" "" "c.1529T>C,p.Leu510Pro" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94077715A>G" "" "likely pathogenic (recessive)" ""
"0000769156" "0" "70" "1" "94522239" "94522239" "subst" "2.03305E-5" "01695" "ABCA4_000736" "g.94522239A>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.2300T>A,p.Val767Asp" "" "Unknown" "" "" "0" "" "" "g.94056683A>T" "" "likely pathogenic (recessive)" ""
"0000769157" "0" "90" "1" "94586557" "94586557" "subst" "4.06134E-6" "01695" "ABCA4_000259" "g.94586557C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.45G>A, p.Trp15Ter" "" "Unknown" "" "" "0" "" "" "g.94121001C>T" "" "pathogenic (recessive)" ""
"0000769158" "0" "70" "1" "94512478" "94512478" "subst" "3.65871E-5" "01695" "ABCA4_000678" "g.94512478G>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.2915C>A,p.Thr972Asm" "" "Unknown" "" "" "0" "" "" "g.94046922G>T" "" "likely pathogenic (recessive)" ""
"0000769159" "0" "70" "1" "94496548" "94496548" "subst" "2.43787E-5" "01695" "ABCA4_000088" "g.94496548G>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.4253+4C>T, splice sitealteration" "" "Unknown" "" "" "0" "" "" "g.94030992G>A" "" "likely pathogenic (recessive)" ""
"0000769160" "0" "70" "1" "94506902" "94506902" "subst" "1.21834E-5" "01695" "ABCA4_000623" "g.94506902G>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.3385C>T,p.Arg1129Cys" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94041346G>A" "" "likely pathogenic (recessive)" ""
"0000769161" "0" "90" "1" "94520690" "94520690" "subst" "2.03102E-5" "01695" "ABCA4_000149" "g.94520690C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.2564G>A,p.Trp855Ter" "" "Unknown" "" "" "0" "" "" "g.94055134C>T" "" "pathogenic (recessive)" ""
"0000769162" "0" "90" "1" "94508386" "94508386" "subst" "1.62443E-5" "01695" "ABCA4_000642" "g.94508386C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.3259G>A,p.Glu1087Lys" "" "Unknown" "" "" "0" "" "" "g.94042830C>T" "" "pathogenic (recessive)" ""
"0000769163" "0" "70" "1" "94496548" "94496548" "subst" "2.43787E-5" "01695" "ABCA4_000088" "g.94496548G>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.4253+4C>T, splice sitealteration" "" "Unknown" "" "" "0" "" "" "g.94030992G>A" "" "likely pathogenic (recessive)" ""
"0000769164" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.3113C>T,p.Ala1038Val" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000769165" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.4139C>T,p.Pro1380Leu" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000769166" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Fujinami 2019:29925512}" "" "c.2588G>C,p.Gly863Ala" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000769167" "0" "50" "1" "94546265" "94546265" "subst" "2.04063E-5" "01695" "ABCA4_000355" "g.94546265G>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.868C>T, p.Arg290Trp" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94080709G>A" "" "VUS" ""
"0000769168" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Fujinami 2019:29925512}" "" "c.5461-10T>C, splicesite alteration" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000769169" "0" "50" "1" "94485257" "94485257" "subst" "0.00017945" "01695" "ABCA4_000100" "g.94485257C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.5077G>A,p.Val1693Ile" "" "Unknown" "" "" "0" "" "" "g.94019701C>T" "" "VUS" ""
"0000769170" "0" "50" "1" "94568675" "94568675" "subst" "0.00146249" "01695" "ABCA4_000210" "g.94568675T>C" "" "{PMID:Fujinami 2019:29925512}" "" "c.466A>G, p.Ile156Val" "" "Unknown" "" "" "0" "" "" "g.94103119T>C" "" "VUS" ""
"0000769171" "0" "70" "1" "94496583" "94496583" "subst" "2.03092E-5" "01695" "ABCA4_000190" "g.94496583A>G" "" "{PMID:Fujinami 2019:29925512}" "" "c.4222T>C,p.Trp1408Arg" "" "Unknown" "" "" "0" "" "" "g.94031027A>G" "" "likely pathogenic (recessive)" ""
"0000769172" "0" "90" "1" "94495009" "94495009" "dup" "0" "01695" "ABCA4_000087" "g.94495009dup" "" "{PMID:Fujinami 2019:29925512}" "" "c.4537_4538insC,p.Pro1513GlnfsTer42" "" "Unknown" "" "" "0" "" "" "g.94029453dup" "" "pathogenic (recessive)" ""
"0000769173" "0" "70" "1" "94508385" "94508385" "subst" "4.06095E-6" "01695" "ABCA4_001932" "g.94508385T>C" "" "{PMID:Fujinami 2019:29925512}" "" "c.3260A>G,p.Glu1087Gly" "" "Unknown" "" "" "0" "" "" "g.94042829T>C" "" "likely pathogenic (recessive)" ""
"0000769174" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Fujinami 2019:29925512}" "" "c.2588G>C,p.Gly863Ala" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000769175" "0" "70" "1" "94522239" "94522239" "subst" "2.03305E-5" "01695" "ABCA4_000736" "g.94522239A>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.2300T>A,p.Val767Asp" "" "Unknown" "" "" "0" "" "" "g.94056683A>T" "" "likely pathogenic (recessive)" ""
"0000769176" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Fujinami 2019:29925512}" "" "c.2588G>C,p.Gly863Ala" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000769177" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.3113C>T,p.Ala1038Val" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000769178" "0" "70" "1" "94485220" "94485220" "subst" "4.08938E-6" "01695" "ABCA4_000470" "g.94485220C>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.5114G>T,p.Arg1705Leu" "" "Unknown" "" "" "0" "" "" "g.94019664C>A" "" "likely pathogenic (recessive)" ""
"0000769179" "0" "70" "1" "94486895" "94486895" "subst" "3.24923E-5" "01695" "ABCA4_000484" "g.94486895C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.4919G>A,p.Arg1640Gln" "" "Unknown" "" "" "0" "" "" "g.94021339C>T" "" "likely pathogenic (recessive)" ""
"0000769180" "0" "90" "1" "94546047" "94546047" "subst" "0" "01695" "ABCA4_000150" "g.94546047A>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.1086T>A, p.Tyr362Ter" "" "Unknown" "" "" "0" "" "" "g.94080491A>T" "" "pathogenic (recessive)" ""
"0000769181" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.5882G>A,p.Gly1961Glu" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000769182" "0" "70" "1" "94578524" "94578524" "subst" "0" "01695" "ABCA4_000068" "g.94578524C>G" "" "{PMID:Fujinami 2019:29925512}" "" "c.160+5G>C, splice sitealteration" "" "Unknown" "" "" "0" "" "" "g.94112968C>G" "" "likely pathogenic (recessive)" ""
"0000769183" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Fujinami 2019:29925512}" "" "c.1622T>C,p.Leu541Pro" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000769184" "0" "70" "1" "94528151" "94528151" "subst" "0" "01695" "ABCA4_000265" "g.94528151G>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.1919C>T,p.Pro640Leu" "" "Unknown" "" "" "0" "" "" "g.94062595G>A" "" "likely pathogenic (recessive)" ""
"0000769185" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.4139C>T,p.Pro1380Leu" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000769186" "0" "70" "1" "94486895" "94486895" "subst" "3.24923E-5" "01695" "ABCA4_000484" "g.94486895C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.4919G>A,p.Arg1640Gln" "" "Unknown" "" "" "0" "" "" "g.94021339C>T" "" "likely pathogenic (recessive)" ""
"0000769187" "0" "70" "1" "94528217" "94528217" "subst" "0" "01695" "ABCA4_000272" "g.94528217C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.1853G>A,p.Gly618Glu" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94062661C>T" "" "likely pathogenic (recessive)" ""
"0000769188" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Fujinami 2019:29925512}" "" "c.1622T>C,p.Leu541Pro" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000769189" "0" "70" "1" "94528818" "94528818" "subst" "0.00205975" "01695" "ABCA4_001239" "g.94528818C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.1610G>A,p.Arg537His" "" "Unknown" "" "" "0" "" "" "g.94063262C>T" "" "likely pathogenic (recessive)" ""
"0000769190" "1" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Runhart 2018:29971439}" "" "c.768G>T p.(Leu257Valfs*17)" "" "Unknown" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000769191" "1" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Runhart 2018:29971439}" "" "c.768G>T p.(Leu257Valfs*17)" "" "Unknown" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000769192" "1" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Runhart 2018:29971439}" "" "c.768G>T p.(Leu257Valfs*17)" "" "Unknown" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000769193" "1" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Runhart 2018:29971439}" "" "c.768G>T p.(Leu257Valfs*17)" "" "Unknown" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000769194" "1" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Runhart 2018:29971439}" "" "c.768G>T p.(Leu257Valfs*17)" "" "Unknown" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000769195" "1" "70" "1" "94528248" "94528248" "subst" "1.22148E-5" "01695" "ABCA4_000279" "g.94528248A>T" "" "{PMID:Runhart 2018:29971439}" "" "c.1822T>A p.(Phe608Ile)" "" "Unknown" "" "" "0" "" "" "g.94062692A>T" "" "likely pathogenic (recessive)" ""
"0000769196" "1" "90" "1" "94474381" "94474382" "dup" "0" "01695" "ABCA4_000409" "g.94474381_94474382dup" "" "{PMID:Runhart 2018:29971439}" "" "c.5762_5763dup p.(Ala1922Trpfs*18)" "" "Unknown" "" "" "0" "" "" "g.94008825_94008826dup" "" "pathogenic (recessive)" ""
"0000769197" "1" "90" "1" "94474381" "94474382" "dup" "0" "01695" "ABCA4_000409" "g.94474381_94474382dup" "" "{PMID:Runhart 2018:29971439}" "" "c.5762_5763dup p.(Ala1922Trpfs*18)" "" "Unknown" "" "" "0" "" "" "g.94008825_94008826dup" "" "pathogenic (recessive)" ""
"0000769198" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Runhart 2018:29971439}" "" "c.[5461-10T>C;5603A>T] p.[Thr1821Valfs*13, Thr1821Aspfs*6; Asn1868Ile]" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000769199" "0" "70" "1" "94473281" "94473281" "subst" "0" "01695" "ABCA4_000393" "g.94473281C>T" "" "{PMID:Runhart 2018:29971439}" "" "c.5914G>A#** p.(Gly1972Arg)" "" "Unknown" "" "" "0" "" "" "g.94007725C>T" "" "likely pathogenic (recessive)" ""
"0000769200" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Runhart 2018:29971439}" "" "c.768G>T p.(Leu257Valfs*17)" "" "Unknown" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000769201" "1" "90" "1" "94467543" "94467543" "del" "0" "01695" "ABCA4_000955" "g.94467543del" "" "{PMID:Runhart 2018:29971439}" "" "c.6155del p.(Asn2052Thrfs*9)" "" "Unknown" "" "" "0" "" "" "g.94001987del" "" "pathogenic (recessive)" ""
"0000769202" "1" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Runhart 2018:29971439}" "" "c.768G>T p.(Leu257Valfs*17)" "" "Unknown" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000769203" "1" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Runhart 2018:29971439}" "" "c.5714+5G>A p.[¼, Glu1863Leufs*33)" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000769204" "0" "90" "1" "94473278" "94473278" "del" "3.25908E-5" "01695" "ABCA4_000392" "g.94473278del" "" "{PMID:Runhart 2018:29971439}" "" "c.5917delG# p.(Val1973*)" "" "Unknown" "" "" "0" "" "" "g.94007722del" "" "pathogenic (recessive)" ""
"0000769205" "1" "70" "1" "94528248" "94528248" "subst" "1.22148E-5" "01695" "ABCA4_000279" "g.94528248A>T" "" "{PMID:Runhart 2018:29971439}" "" "c.1822T>A p.(Phe608Ile)" "" "Unknown" "" "" "0" "" "" "g.94062692A>T" "" "likely pathogenic (recessive)" ""
"0000769206" "1" "90" "1" "94526316" "94526316" "subst" "4.25152E-6" "01695" "ABCA4_000118" "g.94526316C>T" "" "{PMID:Runhart 2018:29971439}" "" "c.1938-1G>A p.(?)" "" "Unknown" "" "" "0" "" "" "g.94060760C>T" "" "pathogenic (recessive)" ""
"0000769207" "1" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Runhart 2018:29971439}" "" "c.5882G>A p.(Gly1961Glu)" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000769208" "1" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Runhart 2018:29971439}" "" "c.768G>T p.(Leu257Valfs*17)" "" "Unknown" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000769209" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Runhart 2018:29971439}" "" "c.[5461-10T>C; 5603A>T] p.[Thr1821Valfs*13, Thr1821Aspfs*6; Asn1868Ile]" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000769210" "0" "90" "1" "94496571" "94496571" "subst" "4.06174E-6" "01695" "ABCA4_000111" "g.94496571G>A" "" "{PMID:Runhart 2018:29971439}" "" "c.4234C>T# p.(Gln1412*)" "" "Unknown" "" "" "0" "" "" "g.94031015G>A" "" "pathogenic (recessive)" ""
"0000769211" "0" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "" "{PMID:Runhart 2018:29971439}" "" "c.[4469G>A; 5603A>T] p.[Cys1490Glufs*12; Asn1868Ile]" "" "Unknown" "" "" "0" "" "" "g.94029515C>T" "" "likely pathogenic (recessive)" ""
"0000769212" "0" "70" "1" "94546150" "94546150" "subst" "4.06828E-6" "01695" "ABCA4_000346" "g.94546150T>A" "" "{PMID:Sung 2019:29975949}" "" "c.983A>T p.Glu328Val" "" "Unknown" "" "" "0" "" "" "g.94080594T>A" "" "likely pathogenic (recessive)" ""
"0000769213" "0" "90" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Sung 2019:29975949}" "" "c.2894A>G p.Asn965Ser" "" "Unknown" "" "" "0" "" "" "g.94046943T>C" "" "pathogenic (recessive)" ""
"0000769214" "0" "70" "1" "94510185" "94510187" "del" "0" "01695" "ABCA4_001962" "g.94510185_94510187del" "" "{PMID:Sung 2019:29975949}" "" "c.3035_3037delACA p.Asn1012del" "" "Unknown" "" "" "0" "" "" "g.94044629_94044631del" "" "likely pathogenic (recessive)" ""
"0000769215" "0" "50" "1" "94512479" "94512479" "subst" "0" "01695" "ABCA4_002271" "g.94512479T>G" "" "{PMID:Sung 2019:29975949}" "" "2974A>C (Thr972Pro)" "" "Unknown" "" "" "0" "" "" "" "" "VUS" ""
"0000769216" "0" "10" "1" "94544234" "94544234" "subst" "0.255245" "01695" "ABCA4_000322" "g.94544234T>C" "" "{PMID:Sung 2019:29975949}" "" "c.1268A>G p.His423Arg" "" "Unknown" "" "" "0" "" "" "g.94078678T>C" "" "benign" ""
"0000769217" "0" "10" "1" "94544234" "94544234" "subst" "0.255245" "01695" "ABCA4_000322" "g.94544234T>C" "" "{PMID:Sung 2019:29975949}" "" "c.1268A>G p.His423Arg" "" "Unknown" "" "" "0" "" "" "g.94078678T>C" "" "benign" ""
"0000769218" "0" "10" "1" "94564483" "94564483" "subst" "0.0409724" "01695" "ABCA4_000009" "g.94564483C>T" "" "{PMID:Sung 2019:29975949}" "" "c.635G>A p.Arg212His" "" "Unknown" "" "" "0" "" "" "g.94098927C>T" "" "benign" ""
"0000769219" "0" "10" "1" "94564483" "94564483" "subst" "0.0409724" "01695" "ABCA4_000009" "g.94564483C>T" "" "{PMID:Sung 2019:29975949}" "" "c.635G>A p.Arg212His" "" "Unknown" "" "" "0" "" "" "g.94098927C>T" "" "benign" ""
"0000769220" "0" "70" "1" "94568581" "94568581" "subst" "3.65458E-5" "01695" "ABCA4_000202" "g.94568581C>T" "" "{PMID:Sung 2019:29975949}" "" "c.560G>A p.Arg187His" "" "Unknown" "" "" "0" "" "" "g.94103025C>T" "" "likely pathogenic (recessive)" ""
"0000769221" "0" "90" "1" "94546253" "94546253" "subst" "0" "01695" "ABCA4_001351" "g.94546253G>A" "" "{PMID:Sung 2019:29975949}" "" "c.880C>T p.Gln294*" "" "Unknown" "" "" "0" "" "" "g.94080697G>A" "" "pathogenic (recessive)" ""
"0000769222" "0" "10" "1" "94544234" "94544234" "subst" "0.255245" "01695" "ABCA4_000322" "g.94544234T>C" "" "{PMID:Sung 2019:29975949}" "" "c.1268A>G p.His423Arg" "" "Unknown" "" "" "0" "" "" "g.94078678T>C" "" "benign" ""
"0000769223" "0" "90" "1" "94546253" "94546253" "subst" "0" "01695" "ABCA4_001351" "g.94546253G>A" "" "{PMID:Sung 2019:29975949}" "" "c.880C>T p.Gln294*" "" "Unknown" "" "" "0" "" "" "g.94080697G>A" "" "pathogenic (recessive)" ""
"0000769224" "0" "70" "1" "94526295" "94526295" "subst" "3.69731E-5" "01695" "ABCA4_000114" "g.94526295C>T" "" "{PMID:Sung 2019:29975949}" "" "c.1958G>A p.Arg653His" "" "Unknown" "" "" "0" "" "" "g.94060739C>T" "" "likely pathogenic (recessive)" ""
"0000769225" "0" "50" "1" "94528137" "94528137" "subst" "2.03363E-5" "01695" "ABCA4_000774" "g.94528137C>T" "" "{PMID:Sung 2019:29975949}" "" "c.1933G>A p.Asp645Asn" "" "Unknown" "" "" "0" "" "" "g.94062581C>T" "" "VUS" ""
"0000769226" "0" "70" "1" "94510185" "94510187" "del" "0" "01695" "ABCA4_001962" "g.94510185_94510187del" "" "{PMID:Sung 2019:29975949}" "" "c.3035_3037delACA p.Asn1012Ile" "" "Unknown" "" "" "0" "" "" "g.94044629_94044631del" "" "likely pathogenic (recessive)" ""
"0000769227" "0" "10" "1" "94544234" "94544234" "subst" "0.255245" "01695" "ABCA4_000322" "g.94544234T>C" "" "{PMID:Sung 2019:29975949}" "" "c.1268A>G p.His423Arg" "" "Unknown" "" "" "0" "" "" "g.94078678T>C" "" "benign" ""
"0000769228" "0" "70" "1" "94520870" "94520870" "subst" "4.07774E-6" "01695" "ABCA4_002032" "g.94520870C>T" "" "{PMID:Sung 2019:29975949}" "" "c.2384G>A p.Ser795Asn" "" "Unknown" "" "" "0" "" "" "g.94055314C>T" "" "likely pathogenic (recessive)" ""
"0000769229" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Lee 2018:30055151}" "" "c.3322C>T p.(R1108C)" "" "Unknown" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000769230" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Lee 2018:30055151}" "" "c.4139C>T p.(P1380L)" "" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000769231" "1" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Lee 2018:30055151}" "" "c.2588G>Ca p.(G863A)" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000769232" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Lee 2018:30055151}" "" "c.3322C>T p.(R1108C)" "" "Unknown" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000769233" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Lee 2018:30055151}" "" "c.768G>T p.(?)" "" "Unknown" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000769234" "0" "70" "1" "94510164" "94510164" "subst" "1.62441E-5" "01695" "ABCA4_000144" "g.94510164C>T" "" "{PMID:Lee 2018:30055151}" "" "c.3050+5G>A p.(?)" "" "Unknown" "" "" "0" "" "" "g.94044608C>T" "" "likely pathogenic (recessive)" ""
"0000769235" "3" "90" "1" "94509026" "94509026" "subst" "4.06497E-5" "01695" "ABCA4_000660" "g.94509026G>A" "" "{PMID:Lee 2018:30055151}" "" "c.3056C>T p.(T1019M)" "" "Unknown" "" "" "0" "" "" "g.94043470G>A" "" "pathogenic (recessive)" ""
"0000769236" "0" "70" "1" "94577135" "94577135" "subst" "2.43718E-5" "01695" "ABCA4_000240" "g.94577135C>T" "" "{PMID:Lee 2018:30055151}" "" "c.161G>A p.(C54Y)" "" "Unknown" "" "" "0" "" "" "g.94111579C>T" "" "likely pathogenic (recessive)" ""
"0000769237" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Lee 2018:30055151}" "" "c.4139C>T p.(P1380L)" "" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000769238" "1" "50" "1" "94576926" "94576926" "subst" "0" "01695" "ABCA4_000219" "g.94576926G>A" "" "{PMID:Lee 2018:30055151}" "" "c.302+68C>Ta p.(?)" "" "Unknown" "" "" "0" "" "" "g.94111370G>A" "" "VUS" ""
"0000769239" "1" "50" "1" "94576926" "94576926" "subst" "0" "01695" "ABCA4_000219" "g.94576926G>A" "" "{PMID:Lee 2018:30055151}" "" "c.302+68C>Ta p.(?)" "" "Unknown" "" "" "0" "" "" "g.94111370G>A" "" "VUS" ""
"0000769240" "1" "90" "1" "94463453" "94463453" "del" "0" "01695" "ABCA4_001565" "g.94463453del" "" "{PMID:Nassisi 2018:30060493}" "" "c.6693del p.(Ile2231Metfs*16)" "" "Unknown" "yes" "" "0" "" "" "g.93997897del" "" "pathogenic (recessive)" ""
"0000769241" "1" "90" "1" "94520682" "94520682" "dup" "0" "01695" "ABCA4_002016" "g.94520682dup" "" "{PMID:Nassisi 2018:30060493}" "" "c.2572dup p.(Asp858Glyfs*27)" "" "Unknown" "yes" "" "0" "" "" "g.94055126dup" "" "pathogenic (recessive)" ""
"0000769242" "1" "90" "1" "94546086" "94546086" "del" "0" "01695" "ABCA4_002144" "g.94546086del" "" "{PMID:Nassisi 2018:30060493}" "" "c.1050del p.(Ile351Leufs*23)" "" "Unknown" "yes" "" "0" "" "" "g.94080530del" "" "pathogenic (recessive)" ""
"0000769243" "1" "90" "1" "94467515" "94467518" "del" "0" "01695" "ABCA4_001380" "g.94467515_94467518del" "" "{PMID:Nassisi 2018:30060493}" "" "c.6181_6184del p.(Thr2061Serfs*53)" "" "Unknown" "yes" "" "0" "" "" "g.94001959_94001962del" "" "pathogenic (recessive)" ""
"0000769244" "0" "70" "1" "94528872" "94528872" "subst" "0" "01695" "ABCA4_002108" "g.94528872C>T" "" "{PMID:Nassisi 2018:30060493}" "" "c.1556G>A p.(Cys519Tyr)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94063316C>T" "" "likely pathogenic (recessive)" ""
"0000769245" "1" "90" "1" "94497496" "94497496" "del" "0" "01695" "ABCA4_001859" "g.94497496del" "" "{PMID:Nassisi 2018:30060493}" "" "c.3966del p.(Ala1324Argfs*65)" "" "Unknown" "yes" "" "0" "" "" "g.94031940del" "" "pathogenic (recessive)" ""
"0000769246" "1" "90" "1" "94497496" "94497496" "del" "0" "01695" "ABCA4_001859" "g.94497496del" "" "{PMID:Nassisi 2018:30060493}" "" "c.3966del p.(Ala1324Argfs*65)" "" "Unknown" "yes" "" "0" "" "" "g.94031940del" "" "pathogenic (recessive)" ""
"0000769247" "0" "70" "1" "94502703" "94502703" "subst" "0" "01695" "ABCA4_001872" "g.94502703C>G" "" "{PMID:Nassisi 2018:30060493}" "" "c.3811G>C p.(Glu1271Gln)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94037147C>G" "" "likely pathogenic (recessive)" ""
"0000769248" "1" "50" "1" "94496679" "94496679" "subst" "0" "01695" "ABCA4_001844" "g.94496679G>T" "" "{PMID:Nassisi 2018:30060493}" "" "c.4129??3C>A p.?" "" "Unknown" "yes" "" "0" "" "" "g.94031123G>T" "" "VUS" ""
"0000769249" "0" "70" "1" "94544250" "94544250" "subst" "0" "01695" "ABCA4_001032" "g.94544250A>G" "" "{PMID:Nassisi 2018:30060493}" "" "c.1252T>C p.(Phe418Leu)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94078694A>G" "" "likely pathogenic (recessive)" ""
"0000769250" "1" "90" "1" "94487486" "94487486" "del" "0" "01695" "ABCA4_001767" "g.94487486del" "" "{PMID:Nassisi 2018:30060493}" "" "c.4689del p.(Gly1564Glufs*17)" "" "Unknown" "yes" "" "0" "" "" "g.94021930del" "" "pathogenic (recessive)" ""
"0000769251" "1" "70" "1" "94512525" "94512525" "subst" "0" "01695" "ABCA4_001984" "g.94512525G>T" "" "{PMID:Nassisi 2018:30060493}" "" "c.2868C>A p.(Asn956Lys)" "" "Unknown" "yes" "" "0" "" "" "g.94046969G>T" "" "likely pathogenic (recessive)" ""
"0000769252" "1" "70" "1" "94467505" "94467505" "subst" "4.06128E-6" "01695" "ABCA4_000868" "g.94467505G>A" "" "{PMID:Nassisi 2018:30060493}" "" "c.6191C>T p.(Ala2064Val)" "" "Unknown" "yes" "" "0" "" "" "g.94001949G>A" "" "likely pathogenic (recessive)" ""
"0000769253" "1" "70" "1" "94586549" "94586549" "subst" "0" "01695" "ABCA4_001028" "g.94586549C>T" "" "{PMID:Nassisi 2018:30060493}" "" "c.53G>A p.(Arg18Gln)" "" "Unknown" "yes" "" "0" "" "" "g.94120993C>T" "" "likely pathogenic (recessive)" ""
"0000769254" "1" "70" "1" "94586549" "94586549" "subst" "0" "01695" "ABCA4_001028" "g.94586549C>T" "" "{PMID:Nassisi 2018:30060493}" "" "c.53G>A p.(Arg18Gln)" "" "Unknown" "yes" "" "0" "" "" "g.94120993C>T" "" "likely pathogenic (recessive)" ""
"0000769255" "0" "90" "1" "94502832" "94502832" "subst" "0" "01695" "ABCA4_001879" "g.94502832C>A" "" "{PMID:Nassisi 2018:30060493}" "" "c.3682G>T p.(Glu1228*)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94037276C>A" "" "pathogenic (recessive)" ""
"0000769256" "0" "70" "1" "94528722" "94528722" "subst" "0" "01695" "ABCA4_002090" "g.94528722T>C" "" "{PMID:Nassisi 2018:30060493}" "" "c.1706A>G p.(Tyr569Cys)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94063166T>C" "" "likely pathogenic (recessive)" ""
"0000769257" "1" "90" "1" "94546086" "94546086" "del" "0" "01695" "ABCA4_002144" "g.94546086del" "" "{PMID:Nassisi 2018:30060493}" "" "c.1050del p.(Ile351Leufs*23)" "" "Unknown" "yes" "" "0" "" "" "g.94080530del" "" "pathogenic (recessive)" ""
"0000769258" "0" "70" "1" "94509002" "94509002" "subst" "0" "01695" "ABCA4_001955" "g.94509002T>C" "" "{PMID:Nassisi 2018:30060493}" "" "c.3080A>G p.(Tyr1027Cys)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94043446T>C" "" "likely pathogenic (recessive)" ""
"0000769259" "1" "70" "1" "94467446" "94467446" "subst" "1.21856E-5" "01695" "ABCA4_001594" "g.94467446C>T" "" "{PMID:Nassisi 2018:30060493}" "" "c.6250G>A p.(Ala2084Thr)" "" "Unknown" "yes" "" "0" "" "" "g.94001890C>T" "" "likely pathogenic (recessive)" ""
"0000769260" "1" "90" "1" "94520682" "94520682" "dup" "0" "01695" "ABCA4_002016" "g.94520682dup" "" "{PMID:Nassisi 2018:30060493}" "" "c.2572dup p.(Asp858Glyfs*27)" "" "Unknown" "yes" "" "0" "" "" "g.94055126dup" "" "pathogenic (recessive)" ""
"0000769261" "1" "70" "1" "94544916" "94544916" "subst" "0" "01695" "ABCA4_001033" "g.94544916T>G" "" "{PMID:Nassisi 2018:30060493}" "" "c.1201A>C p.(Thr401Pro)" "" "Unknown" "yes" "" "0" "" "" "g.94079360T>G" "" "likely pathogenic (recessive)" ""
"0000769262" "0" "70" "1" "94502703" "94502703" "subst" "0" "01695" "ABCA4_001872" "g.94502703C>G" "" "{PMID:Nassisi 2018:30060493}" "" "c.3811G>C p.(Glu1271Gln)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94037147C>G" "" "likely pathogenic (recessive)" ""
"0000769263" "1" "90" "1" "94546160" "94546161" "delins" "0" "01695" "ABCA4_002150" "g.94546160_94546161delinsAT" "" "{PMID:Nassisi 2018:30060493}" "" "c.972_973delinsAT p.(Cys324*)" "" "Unknown" "yes" "" "0" "" "" "g.94080604_94080605delinsAT" "" "pathogenic (recessive)" ""
"0000769264" "0" "90" "1" "94522240" "94522240" "del" "0" "01695" "ABCA4_002042" "g.94522240del" "" "{PMID:Nassisi 2018:30060493}" "" "c.2299del p.(Val767Serfs*20)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94056684del" "" "pathogenic (recessive)" ""
"0000769265" "1" "70" "1" "94528770" "94528781" "del" "0" "01695" "ABCA4_002095" "g.94528770_94528781del" "" "{PMID:Nassisi 2018:30060493}" "" "c.1648_1659del p.(Gly550_Phe553del)" "" "Unknown" "yes" "" "0" "" "" "g.94063214_94063225del" "" "likely pathogenic (recessive)" ""
"0000769266" "3" "90" "1" "94466434" "94466435" "ins" "0" "01695" "ABCA4_001575" "g.94466434_94466435insA" "" "{PMID:Nassisi 2018:30060493}" "" "c.6436_6437insT p.(Gly2146Valfs*36)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94000878_94000879insA" "" "pathogenic (recessive)" ""
"0000769267" "1" "90" "1" "94495009" "94495034" "del" "0" "01695" "ABCA4_001803" "g.94495009_94495034del" "" "{PMID:Nassisi 2018:30060493}" "" "c.4510_4535del p.(Glu1504Profs*42)" "" "Unknown" "yes" "" "0" "" "" "g.94029453_94029478del" "" "pathogenic (recessive)" ""
"0000769268" "0" "90" "1" "94546231" "94546231" "del" "0" "01695" "ABCA4_002154" "g.94546231del" "" "{PMID:Nassisi 2018:30060493}" "" "c.902del p.(Arg301Serfs*15)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94080675del" "" "pathogenic (recessive)" ""
"0000769269" "1" "90" "1" "94568564" "94568571" "del" "0" "01695" "ABCA4_002197" "g.94568564_94568571del" "" "{PMID:Nassisi 2018:30060493}" "" "c.570+1_570+8del p.?" "" "Unknown" "yes" "" "0" "" "" "g.94103008_94103015del" "" "pathogenic (recessive)" ""
"0000769270" "0" "70" "1" "94481325" "94481325" "subst" "0" "01695" "ABCA4_001707" "g.94481325G>C" "" "{PMID:Nassisi 2018:30060493}" "" "c.5282C>G p.(Pro1761Arg)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94015769G>C" "" "likely pathogenic (recessive)" ""
"0000769271" "0" "70" "1" "94502333" "94502333" "subst" "0" "01695" "ABCA4_001866" "g.94502333C>G" "" "{PMID:Nassisi 2018:30060493}" "" "c.3825G>C p.(Lys1275Asn)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94036777C>G" "" "likely pathogenic (recessive)" ""
"0000769272" "0" "90" "1" "94546086" "94546086" "del" "0" "01695" "ABCA4_002144" "g.94546086del" "" "{PMID:Nassisi 2018:30060493}" "" "c.1050del p.(Ile351Leufs*23)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94080530del" "" "pathogenic (recessive)" ""
"0000769273" "1" "90" "1" "94473789" "94473789" "subst" "0" "01695" "ABCA4_001644" "g.94473789A>G" "" "{PMID:Nassisi 2018:30060493}" "" "c.5898+2T>C p.?" "" "Unknown" "yes" "" "0" "" "" "g.94008233A>G" "" "pathogenic (recessive)" ""
"0000769274" "3" "70" "1" "94546114" "94546114" "subst" "0" "01695" "ABCA4_000983" "g.94546114T>C" "" "{PMID:Nassisi 2018:30060493}" "" "c.1019A>G p.(Tyr340Cys)" "" "Unknown" "yes" "" "0" "" "" "g.94080558T>C" "" "likely pathogenic (recessive)" ""
"0000769275" "1" "70" "1" "94497401" "94497401" "subst" "0" "01695" "ABCA4_001852" "g.94497401T>G" "" "{PMID:Nassisi 2018:30060493}" "" "c.4061A>C p.(His1354Pro)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94031845T>G" "" "likely pathogenic (recessive)" ""
"0000769276" "1" "70" "1" "94466660" "94466660" "subst" "4.07594E-6" "01695" "ABCA4_001586" "g.94466660T>C" "" "{PMID:Nassisi 2018:30060493}" "" "c.6284A>G p.(Asp2095Gly)" "" "Unknown" "yes" "" "0" "" "" "g.94001104T>C" "" "likely pathogenic (recessive)" ""
"0000769277" "0" "70" "1" "94528175" "94528175" "subst" "0" "01695" "ABCA4_002073" "g.94528175A>T" "" "{PMID:Nassisi 2018:30060493}" "" "c.1895T>A p.(Ile632Asn)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94062619A>T" "" "likely pathogenic (recessive)" ""
"0000769278" "0" "70" "1" "94480227" "94480227" "subst" "8.12222E-6" "01695" "ABCA4_001700" "g.94480227T>A" "" "{PMID:Nassisi 2018:30060493}" "" "c.5332A>T p.(Met1778Leu)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94014671T>A" "" "likely pathogenic (recessive)" ""
"0000769279" "1" "70" "1" "94564432" "94564432" "subst" "0" "01695" "ABCA4_001029" "g.94564432A>G" "" "{PMID:Nassisi 2018:30060493}" "" "c.686T>C p.(Leu229Pro)" "" "Unknown" "yes" "" "0" "" "" "g.94098876A>G" "" "likely pathogenic (recessive)" ""
"0000769280" "1" "70" "1" "94564432" "94564432" "subst" "0" "01695" "ABCA4_001029" "g.94564432A>G" "" "{PMID:Nassisi 2018:30060493}" "" "c.686T>C p.(Leu229Pro)" "" "Unknown" "yes" "" "0" "" "" "g.94098876A>G" "" "likely pathogenic (recessive)" ""
"0000769281" "1" "70" "1" "94481325" "94481325" "subst" "0" "01695" "ABCA4_001707" "g.94481325G>C" "" "{PMID:Nassisi 2018:30060493}" "" "c.5282C>G p.(Pro1761Arg)" "" "Unknown" "yes" "" "0" "" "" "g.94015769G>C" "" "likely pathogenic (recessive)" ""
"0000769282" "0" "90" "1" "94522367" "94522370" "dup" "0" "01695" "ABCA4_002050" "g.94522367_94522370dup" "" "{PMID:Nassisi 2018:30060493}" "" "c.2169_2172dup p.(Leu725Asnfs*42)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94056811_94056814dup" "" "pathogenic (recessive)" ""
"0000769283" "0" "70" "1" "94496012" "94496012" "subst" "0" "01695" "ABCA4_001826" "g.94496012T>C" "" "{PMID:Nassisi 2018:30060493}" "" "c.4324A>G p.(Asn1442Asp)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94030456T>C" "" "likely pathogenic (recessive)" ""
"0000769284" "1" "90" "1" "94467515" "94467518" "del" "0" "01695" "ABCA4_001380" "g.94467515_94467518del" "" "{PMID:Nassisi 2018:30060493}" "" "c.6181_6184del p.(Thr2061Serfs*53)" "" "Unknown" "yes" "" "0" "" "" "g.94001959_94001962del" "" "pathogenic (recessive)" ""
"0000769285" "0" "70" "1" "94496616" "94496630" "del" "0" "01695" "ABCA4_001843" "g.94496616_94496630del" "" "{PMID:Nassisi 2018:30060493}" "" "c.4178_4192del p.(Val1393_Phe1397del)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94031060_94031074del" "" "likely pathogenic (recessive)" ""
"0000769286" "1" "70" "1" "94480217" "94480217" "subst" "0" "01695" "ABCA4_001698" "g.94480217G>T" "" "{PMID:Nassisi 2018:30060493}" "" "c.5342C>A p.(Ala1781Glu)" "" "Unknown" "yes" "" "0" "" "" "g.94014661G>T" "" "likely pathogenic (recessive)" ""
"0000769287" "0" "90" "1" "94488946" "94488947" "del" "0" "01695" "ABCA4_001774" "g.94488946_94488947del" "" "{PMID:Nassisi 2018:30060493}" "" "c.4663_4664del p.(Gln1555Glufs*41)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94023390_94023391del" "" "pathogenic (recessive)" ""
"0000769288" "0" "70" "1" "94480175" "94480175" "subst" "0" "01695" "ABCA4_001694" "g.94480175A>G" "" "{PMID:Nassisi 2018:30060493}" "" "c.5384T>C p.(Leu1795Ser)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94014619A>G" "" "likely pathogenic (recessive)" ""
"0000769289" "0" "90" "1" "94546033" "94546033" "subst" "0" "01695" "ABCA4_000992" "g.94546033C>G" "" "{PMID:Nassisi 2018:30060493}" "" "c.1099+1G>C p.?" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94080477C>G" "" "pathogenic (recessive)" ""
"0000769290" "1" "90" "1" "94461664" "94461664" "subst" "4.06841E-6" "01695" "ABCA4_001559" "g.94461664C>A" "" "{PMID:Nassisi 2018:30060493}" "" "c.6816+1G>T p.?" "" "Unknown" "yes" "" "0" "" "" "g.93996108C>A" "" "pathogenic (recessive)" ""
"0000769291" "1" "90" "1" "94461664" "94461664" "subst" "4.06841E-6" "01695" "ABCA4_001559" "g.94461664C>A" "" "{PMID:Nassisi 2018:30060493}" "" "c.6816+1G>T p.?" "" "Unknown" "yes" "" "0" "" "" "g.93996108C>A" "" "pathogenic (recessive)" ""
"0000769292" "0" "70" "1" "94480227" "94480227" "subst" "8.12222E-6" "01695" "ABCA4_001700" "g.94480227T>A" "" "{PMID:Nassisi 2018:30060493}" "" "c.5332A>T p.(Met1778Leu)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94014671T>A" "" "likely pathogenic (recessive)" ""
"0000769293" "0" "70" "1" "94508334" "94508334" "subst" "0" "01695" "ABCA4_001921" "g.94508334A>G" "" "{PMID:Nassisi 2018:30060493}" "" "c.3311T>C p.(Leu1104Pro)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94042778A>G" "" "likely pathogenic (recessive)" ""
"0000769294" "0" "70" "1" "94461735" "94461735" "subst" "0" "01695" "ABCA4_001414" "g.94461735G>T" "" "{PMID:Nassisi 2018:30060493}" "" "c.6746C>A p.(Ala2249Asp)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.93996179G>T" "" "likely pathogenic (recessive)" ""
"0000769295" "1" "70" "1" "94526170" "94526170" "subst" "0" "01695" "ABCA4_002056" "g.94526170C>G" "" "{PMID:Nassisi 2018:30060493}" "" "c.2083G>C p.(Val695Leu)" "" "Unknown" "yes" "" "0" "" "" "g.94060614C>G" "" "likely pathogenic (recessive)" ""
"0000769296" "1" "70" "1" "94526170" "94526170" "subst" "0" "01695" "ABCA4_002056" "g.94526170C>G" "" "{PMID:Nassisi 2018:30060493}" "" "c.2083G>C p.(Val695Leu)" "" "Unknown" "yes" "" "0" "" "" "g.94060614C>G" "" "likely pathogenic (recessive)" ""
"0000769297" "1" "90" "1" "94487269" "94487269" "subst" "0" "01695" "ABCA4_001755" "g.94487269C>T" "" "{PMID:Nassisi 2018:30060493}" "" "c.4775G>A p.(Gly1592Asp)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94021713C>T" "" "pathogenic (recessive)" ""
"0000769298" "0" "90" "1" "94463442" "94463442" "subst" "0" "01695" "ABCA4_001199" "g.94463442G>C" "" "{PMID:Nassisi 2018:30060493}" "" "c.6704C>G p.(Ser2235*)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.93997886G>C" "" "pathogenic (recessive)" ""
"0000769299" "1" "70" "1" "94487479" "94487479" "subst" "4.06151E-6" "01695" "ABCA4_001765" "g.94487479G>A" "" "{PMID:Nassisi 2018:30060493}" "" "c.4696C>T p.(Leu1566Phe)" "" "Unknown" "yes" "" "0" "" "" "g.94021923G>A" "" "likely pathogenic (recessive)" ""
"0000769300" "1" "70" "1" "94466416" "94466416" "subst" "0" "01695" "ABCA4_001572" "g.94466416C>A" "" "{PMID:Nassisi 2018:30060493}" "" "c.6455G>T p.(Gly2152Val)" "" "Unknown" "yes" "" "0" "" "" "g.94000860C>A" "" "likely pathogenic (recessive)" ""
"0000769301" "0" "90" "1" "94546155" "94546155" "subst" "0" "01695" "ABCA4_002148" "g.94546155G>T" "" "{PMID:Nassisi 2018:30060493}" "" "c.978C>A p.(Tyr326*)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94080599G>T" "" "pathogenic (recessive)" ""
"0000769302" "0" "90" "1" "94520811" "94520811" "subst" "0" "01695" "ABCA4_002027" "g.94520811G>A" "" "{PMID:Nassisi 2018:30060493}" "" "c.2443C>T p.(Gln815*)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94055255G>A" "" "pathogenic (recessive)" ""
"0000769303" "1" "70" "1" "94481325" "94481325" "subst" "0" "01695" "ABCA4_001707" "g.94481325G>C" "" "{PMID:Nassisi 2018:30060493}" "" "c.5282C>G p.(Pro1761Arg)" "" "Unknown" "yes" "" "0" "" "" "g.94015769G>C" "" "likely pathogenic (recessive)" ""
"0000769304" "3" "90" "1" "94544201" "94544201" "subst" "0" "01695" "ABCA4_002131" "g.94544201A>C" "" "{PMID:Nassisi 2018:30060493}" "" "c.1301T>G p.(Val434Gly)" "" "Unknown" "yes" "" "0" "" "" "g.94078645A>C" "" "pathogenic (recessive)" ""
"0000769305" "3" "90" "1" "94544201" "94544201" "subst" "0" "01695" "ABCA4_002131" "g.94544201A>C" "" "{PMID:Nassisi 2018:30060493}" "" "c.1301T>G p.(Val434Gly)" "" "Unknown" "yes" "" "0" "" "" "g.94078645A>C" "" "pathogenic (recessive)" ""
"0000769306" "1" "90" "1" "94546276" "94546276" "subst" "4.08644E-6" "01695" "ABCA4_002156" "g.94546276T>C" "" "{PMID:Nassisi 2018:30060493}" "" "c.859??2A>G -" "" "Unknown" "yes" "" "0" "" "" "g.94080720T>C" "" "pathogenic (recessive)" ""
"0000769307" "1" "70" "1" "94471034" "94471034" "subst" "0" "01695" "ABCA4_001621" "g.94471034G>T" "" "{PMID:Nassisi 2018:30060493}" "" "c.6110C>A p.(Ala2037Asp)" "" "Unknown" "yes" "" "0" "" "" "g.94005478G>T" "" "likely pathogenic (recessive)" ""
"0000769308" "0" "70" "1" "94528872" "94528872" "subst" "0" "01695" "ABCA4_002108" "g.94528872C>T" "" "{PMID:Nassisi 2018:30060493}" "" "c.1556G>A p.(Cys519Tyr)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94063316C>T" "" "likely pathogenic (recessive)" ""
"0000769309" "0" "90" "1" "94497564" "94497564" "subst" "1.64383E-5" "01695" "ABCA4_000091" "g.94497564G>A" "" "{PMID:Salles 2018:30093795}" "" "c.3898C>T p.Arg1300*" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94032008G>A" "" "pathogenic (recessive)" ""
"0000769310" "0" "90" "1" "94502295" "94502295" "subst" "0" "01695" "ABCA4_000589" "g.94502295C>T" "" "{PMID:Salles 2018:30093795}" "" "c.3862+1G>A p.?" "no variant 2nd chromosome; no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94036739C>T" "" "pathogenic (recessive)" ""
"0000769311" "0" "70" "1" "94471032" "94471032" "subst" "1.62553E-5" "01695" "ABCA4_000792" "g.94471032G>A" "" "{PMID:Salles 2018:30093795}" "" "c.6112C>T p.Arg2038Trp" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94005476G>A" "" "likely pathogenic (recessive)" ""
"0000769312" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Salles 2018:30093795}" "" "c.6079C>T p.Leu2027Phe" "no variant 2nd chromosome; no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic (recessive)" ""
"0000769313" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Salles 2018:30093795}" "" "c.5714+5G>A p.?" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000769314" "0" "90" "1" "94487455" "94487455" "subst" "4.06128E-6" "01695" "ABCA4_000504" "g.94487455C>A" "" "{PMID:Salles 2018:30093795}" "" "c.4720G>T p.Glu1574*" "no variant 2nd chromosome; no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94021899C>A" "" "pathogenic (recessive)" ""
"0000769315" "0" "90" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Salles 2018:30093795}" "" "c.634C>T p.Arg212Cys" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94098928G>A" "" "pathogenic (recessive)" ""
"0000769316" "0" "90" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Salles 2018:30093795}" "" "c.634C>T p.Arg212Cys" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94098928G>A" "" "pathogenic (recessive)" ""
"0000769317" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Salles 2018:30093795}" "" "c.3386G>T p.Arg1129Leu" "no variant 2nd chromosome; no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000769318" "0" "70" "1" "94495083" "94495083" "subst" "0.000124542" "01695" "ABCA4_000542" "g.94495083G>A" "" "{PMID:Salles 2018:30093795}" "" "c.4457C>T p.Pro1486Leu" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94029527G>A" "" "likely pathogenic (recessive)" ""
"0000769319" "0" "70" "1" "94485279" "94485293" "del" "0" "01695" "ABCA4_000476" "g.94485279_94485293del" "" "{PMID:Salles 2018:30093795}" "" "c.5044_5058del15‡ p.Val1682_Val1686del‡" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94019723_94019737del" "" "likely pathogenic (recessive)" ""
"0000769320" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Salles 2018:30093795}" "" "c.5714+5G>A p.?" "no variant 2nd chromosome; no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000769321" "0" "70" "1" "94578619" "94578619" "subst" "2.85088E-5" "01695" "ABCA4_000253" "g.94578619G>A" "" "{PMID:Salles 2018:30093795}" "" "c.70C>T p.Arg24Cys" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94113063G>A" "" "likely pathogenic (recessive)" ""
"0000769322" "0" "70" "1" "94577073" "94577073" "subst" "0" "01695" "ABCA4_000231" "g.94577073A>C" "" "{PMID:Salles 2018:30093795}" "" "c.223T>G p.Cys75Gly" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94111517A>C" "" "likely pathogenic (recessive)" ""
"0000769323" "0" "50" "1" "94568686" "94568686" "subst" "0.00258122" "01695" "ABCA4_000212" "g.94568686C>T" "" "{PMID:Salles 2018:30093795}" "" "c.455G>A p.Arg152Gln" "no variant 2nd chromosome; no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94103130C>T" "" "VUS" ""
"0000769324" "0" "90" "1" "94497461" "94497462" "del" "0" "01695" "ABCA4_000581" "g.94497461_94497462del" "" "{PMID:Salles 2018:30093795}" "" "c.4003_4004delCC p.Pro1335Argfs*86" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94031905_94031906del" "" "pathogenic (recessive)" ""
"0000769325" "0" "70" "1" "94528780" "94528780" "subst" "4.06171E-6" "01695" "ABCA4_000299" "g.94528780C>T" "" "{PMID:Salles 2018:30093795}" "" "c.1648G>A p.Gly550Arg" "no variant 2nd chromosome; no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94063224C>T" "" "likely pathogenic (recessive)" ""
"0000769326" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Salles 2018:30093795}" "" "c.5461–10T>C p.[Thr1821Valfs*13, Thr1821Aspfs*6]" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000769327" "1" "50" "1" "94486888" "94486888" "subst" "3.65548E-5" "01695" "ABCA4_000137" "g.94486888G>C" "" "{PMID:Salles 2018:30093795}" "" "c.4926C>G c.5044_5058del15‡ p.Ser1642Arg p.Val1682_Val1686del‡" "" "Unknown" "yes" "" "0" "" "" "g.94021332G>C" "" "VUS" ""
"0000769328" "1" "50" "1" "94486888" "94486888" "subst" "3.65548E-5" "01695" "ABCA4_000137" "g.94486888G>C" "" "{PMID:Salles 2018:30093795}" "" "c.4926C>G c.5044_5058del15‡ p.Ser1642Arg p.Val1682_Val1686del‡" "" "Unknown" "yes" "" "0" "" "" "g.94021332G>C" "" "VUS" ""
"0000769329" "1" "50" "1" "94496008" "94496008" "subst" "2.03056E-5" "01695" "ABCA4_000148" "g.94496008C>T" "" "{PMID:Salles 2018:30093795}" "" "c.4328G>A c.1622T>C p.Leu541Pro p.Arg1443His" "" "Unknown" "yes" "" "0" "" "" "g.94030452C>T" "" "VUS" ""
"0000769330" "1" "50" "1" "94486888" "94486888" "subst" "3.65548E-5" "01695" "ABCA4_000137" "g.94486888G>C" "" "{PMID:Salles 2018:30093795}" "" "c.4926C>G c.5044_5058del15‡ p.Ser1642Arg p.Val1682_Val1686del‡" "" "Unknown" "yes" "" "0" "" "" "g.94021332G>C" "" "VUS" ""
"0000769331" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Salles 2018:30093795}" "" "c.1622T>C c.3113C>T p.Leu541Pro p.Ala1038Val" "" "Unknown" "yes" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000769332" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Salles 2018:30093795}" "" "c.1622T>C c.3113C>T p.Leu541Pro p.Ala1038Val" "" "Unknown" "yes" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000769333" "1" "50" "1" "94486888" "94486888" "subst" "3.65548E-5" "01695" "ABCA4_000137" "g.94486888G>C" "" "{PMID:Salles 2018:30093795}" "" "c.4926C>G c.5044_5058del15‡ p.Ser1642Arg p.Val1682_Val1686del‡" "" "Unknown" "yes" "" "0" "" "" "g.94021332G>C" "" "VUS" ""
"0000769334" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Salles 2018:30093795}" "" "c.1622T>C c.4328G>A p.Leu541Pro p.Arg1443His" "" "Unknown" "yes" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000769335" "0" "50" "1" "94546265" "94546265" "subst" "2.04063E-5" "01695" "ABCA4_000355" "g.94546265G>A" "" "{PMID:Salles 2018:30093795}" "" "c.868C>T c.2690C>T p.Arg290Trp p.Thr897Ile" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94080709G>A" "" "VUS" ""
"0000769336" "1" "50" "1" "94486888" "94486888" "subst" "3.65548E-5" "01695" "ABCA4_000137" "g.94486888G>C" "" "{PMID:Salles 2018:30093795}" "" "c.4926C>G c.5044_5058del15‡ p.Ser1642Arg p.Val1682_Val1686del‡" "" "Unknown" "yes" "" "0" "" "" "g.94021332G>C" "" "VUS" ""
"0000769337" "3" "90" "1" "94471056" "94471056" "subst" "2.84398E-5" "01695" "ABCA4_000050" "g.94471056G>A" "" "{PMID:Salles 2018:30093795}" "" "c.6088C>T p.Arg2030* †" "" "Unknown" "yes" "" "0" "" "" "g.94005500G>A" "" "pathogenic (recessive)" ""
"0000769338" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Salles 2018:30093795}" "" "c.1622T>C c.4328G>A p.Leu541Pro p.Arg1443His" "" "Unknown" "yes" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000769339" "3" "90" "1" "94502295" "94502295" "subst" "0" "01695" "ABCA4_000589" "g.94502295C>T" "" "{PMID:Salles 2018:30093795}" "" "c.3862+1G>A† p.?" "" "Unknown" "yes" "" "0" "" "" "g.94036739C>T" "" "pathogenic (recessive)" ""
"0000769340" "1" "50" "1" "94486888" "94486888" "subst" "3.65548E-5" "01695" "ABCA4_000137" "g.94486888G>C" "" "{PMID:Salles 2018:30093795}" "" "c.4926C>G c.5044_5058del15‡ p.Ser1642Arg p.Val1682_Val1686del‡" "" "Unknown" "yes" "" "0" "" "" "g.94021332G>C" "" "VUS" ""
"0000769341" "1" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Salles 2018:30093795}" "" "c.6079C>T p.Leu2027Phe" "" "Unknown" "yes" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic (recessive)" ""
"0000769342" "1" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Salles 2018:30093795}" "" "c.1804C>T p.Arg602Trp" "no variant 2nd chromosome" "Unknown" "yes" "" "0" "" "" "g.94062710G>A" "" "pathogenic (recessive)" ""
"0000769343" "1" "70" "1" "94586570" "94586570" "subst" "4.06101E-6" "01695" "ABCA4_000154" "g.94586570A>G" "" "{PMID:Salles 2018:30093795}" "" "c.32T>C p. Leu11Pro" "" "Unknown" "yes" "" "0" "" "" "g.94121014A>G" "" "likely pathogenic (recessive)" ""
"0000769344" "3" "70" "1" "94577010" "94577010" "subst" "1.22004E-5" "01695" "ABCA4_000224" "g.94577010T>C" "" "{PMID:Salles 2018:30093795}" "" "c.286A>G p.Asn96Asp†" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94111454T>C" "" "likely pathogenic (recessive)" ""
"0000769345" "1" "70" "1" "94481325" "94481325" "subst" "0" "01695" "ABCA4_001707" "g.94481325G>C" "" "{PMID:Salles 2018:30093795}" "" "c.5282C>G c.6316C>T p.Pro1761Arg p.Arg2106Cys" "" "Unknown" "yes" "" "0" "" "" "g.94015769G>C" "" "likely pathogenic (recessive)" ""
"0000769346" "1" "90" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Salles 2018:30093795}" "" "c.2894 A>G p.Asn965Ser" "" "Unknown" "yes" "" "0" "" "" "g.94046943T>C" "" "pathogenic (recessive)" ""
"0000769347" "1" "50" "1" "94486888" "94486888" "subst" "3.65548E-5" "01695" "ABCA4_000137" "g.94486888G>C" "" "{PMID:Salles 2018:30093795}" "" "c.4926C>G c.5044_5058del15‡ p.Ser1642Arg p.Val1682_Val1686del‡" "" "Unknown" "yes" "" "0" "" "" "g.94021332G>C" "" "VUS" ""
"0000769348" "1" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Salles 2018:30093795}" "" "c.1804C>T p.Arg602Trp" "" "Unknown" "yes" "" "0" "" "" "g.94062710G>A" "" "pathogenic (recessive)" ""
"0000769349" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Salles 2018:30093795}" "" "c.1622T>C c.4328G>A p.Leu541Pro p.Arg1443His" "" "Unknown" "yes" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000769350" "1" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Salles 2018:30093795}" "" "c.5882 G>A c.3113 C>T p.Gly1961Glu p.Ala1038Val" "" "Unknown" "yes" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000769351" "1" "70" "1" "94481325" "94481325" "subst" "0" "01695" "ABCA4_001707" "g.94481325G>C" "" "{PMID:Salles 2018:30093795}" "" "c.5282C>G c.6316C>T p.Pro1761Arg p.Arg2106Cys" "" "Unknown" "yes" "" "0" "" "" "g.94015769G>C" "" "likely pathogenic (recessive)" ""
"0000769352" "1" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Salles 2018:30093795}" "" "c.1804C>T p.Arg602Trp" "" "Unknown" "yes" "" "0" "" "" "g.94062710G>A" "" "pathogenic (recessive)" ""
"0000769353" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Salles 2018:30093795}" "" "c.1622T>C c.3113C>T p.Leu541Pro p.Ala1038Val" "" "Unknown" "yes" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000769354" "3" "70" "1" "94577010" "94577010" "subst" "1.22004E-5" "01695" "ABCA4_000224" "g.94577010T>C" "" "{PMID:Salles 2018:30093795}" "" "c.286A>G p.Asn96Asp†" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94111454T>C" "" "likely pathogenic (recessive)" ""
"0000769355" "1" "90" "1" "94476455" "94476455" "subst" "0" "01695" "ABCA4_001675" "g.94476455C>T" "" "{PMID:Zuazo 2018:30156925}" "" "Trp1872Stop" "" "Unknown" "yes" "" "0" "" "" "g.94010899C>T" "" "pathogenic (recessive)" ""
"0000769356" "0" "90" "1" "94508384" "94508384" "subst" "0" "01695" "ABCA4_000641" "g.94508384T>G" "" "{PMID:Zuazo 2018:30156925}" "" "Glu1087Asp" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94042828T>G" "" "pathogenic (recessive)" ""
"0000769357" "1" "70" "1" "94496547" "94496547" "subst" "1.21904E-5" "01695" "ABCA4_000560" "g.94496547C>T" "" "{PMID:González-del Pozo 2018:30190494}" "" "c.4253 + 5G > A" "" "Unknown" "yes" "" "0" "" "" "g.94030991C>T" "" "likely pathogenic (recessive)" ""
"0000769358" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Collison 2019:30204727}" "" "c.5603A>T" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000769359" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Collison 2019:30204727}" "" "c.5603A>T" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000769360" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Collison 2019:30204727}" "" "c.5603A>T" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000769361" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Collison 2019:30204727}" "" "c.5603A>T" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000769362" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Collison 2019:30204727}" "" "c.5603A>T" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000769363" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Collison 2019:30204727}" "" "c.5603A>T" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000769364" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Collison 2019:30204727}" "" "c.5603A>T" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000769365" "3" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Collison 2019:30204727}" "" "c.5603A>T" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000769366" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Collison 2019:30204727}" "" "c.5603A>T" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000769367" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Collison 2019:30204727}" "" "c.5603A>T" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000769368" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Collison 2019:30204727}" "" "c.5603A>T" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000769369" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Collison 2019:30204727}" "" "c.5603A>T" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000769370" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Collison 2019:30204727}" "" "c.5603A>T" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000769371" "3" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Collison 2019:30204727}" "" "c.5603A>T" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000769372" "3" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Collison 2019:30204727}" "" "c.5603A>T" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000769373" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Collison 2019:30204727}" "" "c.5603A>T" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000769374" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Collison 2019:30204727}" "" "c.5603A>T" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000769375" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Collison 2019:30204727}" "" "c.5603A>T" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000769376" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Collison 2019:30204727}" "" "c.5603A>T" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000769377" "3" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Collison 2019:30204727}{PMID:Zernant 2017:28446513}" "" "c.5603A>T" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000769378" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Collison 2019:30204727}" "" "c.5603A>T" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000769379" "0" "50" "1" "94543427" "94543427" "subst" "0" "01695" "ABCA4_002120" "g.94543427G>A" "" "{PMID:Saatci 2018:30186147}" "" "p.458L (c.1373 C>T)" "" "Unknown" "" "" "0" "" "" "g.94077871G>A" "" "VUS" ""
"0000769380" "3" "90" "1" "94528251" "94528251" "subst" "0" "01695" "ABCA4_000077" "g.94528251C>G" "" "{PMID:Ravesh 2018:30416334}" "" "c.1819G>C (p.G607R) rs61749412" "" "Unknown" "" "" "0" "" "" "g.94062695C>G" "" "pathogenic (recessive)" ""
"0000769381" "21" "70" "1" "94505599" "94505599" "subst" "0" "01695" "ABCA4_001884" "g.94505599C>A" "" "{PMID:Xiang 2019:30563929}" "" "(c.3607G>T and c.6722T>C)" "" "Unknown" "yes" "" "0" "" "" "g.94040043C>A" "" "likely pathogenic (recessive)" ""
"0000769382" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Claassen 2019:30634128}" "" "c.[5461-10 T > C];[4139C > T]" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000769383" "1" "70" "1" "94528248" "94528248" "subst" "0" "01695" "ABCA4_000280" "g.94528248A>G" "" "{PMID:Sangermano 2019:30643219} {PMID:Runhart 2019:31618761}" "" "c.1822T>A p.(Phe608Ile)" "" "Unknown" "yes" "" "0" "" "" "g.94062692A>G" "" "likely pathogenic (recessive)" ""
"0000769384" "1" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Sangermano 2019:30643219}" "" "c.768G>T p.(Leu257Valfs*17)c" "" "Unknown" "yes" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000769385" "1" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Sangermano 2019:30643219} {PMID:Runhart 2019:31618761}" "" "c.768G>T p.(Leu257Valfs*17)c" "" "Unknown" "yes" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000769386" "1" "70" "1" "94495177" "94495177" "subst" "1.22342E-5" "01695" "ABCA4_000023" "g.94495177A>G" "" "{PMID:Sangermano 2019:30643219} {PMID:Runhart 2019:31618761}" "" "c.4363T>C p.(Cys1455Arg)" "" "Unknown" "yes" "" "0" "" "" "g.94029621A>G" "" "likely pathogenic (recessive)" ""
"0000769387" "1" "90" "1" "94548948" "94548948" "subst" "0" "01695" "ABCA4_000360" "g.94548948C>T" "" "{PMID:Sangermano 2019:30643219}" "" "c.[818G>A;5603A>T] p.[Trp273*;Asn1868Ile]" "" "Unknown" "yes" "" "0" "" "" "g.94083392C>T" "" "pathogenic (recessive)" ""
"0000769388" "1" "70" "1" "94528248" "94528248" "subst" "1.22148E-5" "01695" "ABCA4_000279" "g.94528248A>T" "" "{PMID:Sangermano 2019:30643219} {PMID:Runhart 2019:31618761}" "" "c.1822T>A p.(Phe608Ile)" "" "Unknown" "yes" "" "0" "" "" "g.94062692A>T" "" "likely pathogenic (recessive)" ""
"0000769389" "1" "70" "1" "94528248" "94528248" "subst" "1.22148E-5" "01695" "ABCA4_000279" "g.94528248A>T" "" "{PMID:Sangermano 2019:30643219} {PMID:Runhart 2019:31618761}" "" "c.1822T>A p.(Phe608Ile)" "" "Unknown" "yes" "" "0" "" "" "g.94062692A>T" "" "likely pathogenic (recessive)" ""
"0000769390" "1" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Sangermano 2019:30643219} {PMID:Runhart 2019:31618761}" "" "c.[5461-10T>C;5603A>T] p.[Thr1821Valfs*13,Thr1821Aspfs*6;Asn1868Ile]" "" "Unknown" "yes" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000769391" "1" "70" "1" "94490567" "94490567" "subst" "5.68528E-5" "01695" "ABCA4_000026" "g.94490567G>A" "" "{PMID:Sangermano 2019:30643219} {PMID:Runhart 2019:31618761}" "" "c.4577C>T p.(Thr1526Met)" "" "Unknown" "yes" "" "0" "" "" "g.94025011G>A" "" "likely pathogenic (recessive)" ""
"0000769392" "1" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Sangermano 2019:30643219} {PMID:Runhart 2019:31618761}" "" "c.768G>T p.(Leu257Valfs*17)c" "" "Unknown" "yes" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000769393" "1" "90" "1" "94467543" "94467543" "del" "0" "01695" "ABCA4_000955" "g.94467543del" "" "{PMID:Sangermano 2019:30643219} {PMID:Runhart 2019:31618761}" "" "c.6155del p.(Asn2052Thrfs*9)" "" "Unknown" "yes" "" "0" "" "" "g.94001987del" "" "pathogenic (recessive)" ""
"0000769394" "1" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Sangermano 2019:30643219} {PMID:Runhart 2019:31618761}" "" "c.[5461-10T>C;5603A>T] p.[Thr1821Valfs*13,Thr1821Aspfs*6;Asn1868Ile]" "" "Unknown" "yes" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000769395" "1" "70" "1" "94493000" "94493000" "subst" "0" "01695" "ABCA4_000015" "g.94493000C>T" "" "{PMID:Sangermano 2019:30643219} {PMID:Runhart 2019:31618761}" "" "c.4539+2001G>A p.[=,Arg1514Leufs*36]d" "" "Unknown" "yes" "" "0" "" "" "g.94027444C>T" "" "likely pathogenic (recessive)" ""
"0000769396" "1" "90" "1" "94487401" "94487401" "subst" "4.06085E-6" "01695" "ABCA4_000995" "g.94487401C>T" "" "{PMID:Sangermano 2019:30643219} {PMID:Runhart 2019:31618761}" "" "c.4773+1G>A p.(?)" "" "Unknown" "yes" "" "0" "" "" "g.94021845C>T" "" "pathogenic (recessive)" ""
"0000769397" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Sangermano 2019:30643219}" "" "c.3113C>T p.(Ala1038Val)" "" "Unknown" "yes" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000769398" "1" "70" "1" "94484001" "94484001" "subst" "0" "01695" "ABCA4_000016" "g.94484001C>T" "" "{PMID:Sangermano 2019:30643219}" "" "c.5196+1137G>A p.[Met1733Glufs*78,=]e" "" "Unknown" "yes" "" "0" "" "" "g.94018445C>T" "" "likely pathogenic (recessive)" ""
"0000769399" "1" "90" "1" "94495000" "94495000" "subst" "0" "01695" "ABCA4_000164" "g.94495000C>A" "" "{PMID:Sangermano 2019:30643219} {PMID:Runhart 2019:31618761}" "" "c.4539+1G>T p.(?)" "" "Unknown" "yes" "" "0" "" "" "g.94029444C>A" "" "pathogenic (recessive)" ""
"0000769400" "0" "90" "1" "94495000" "94495000" "subst" "0" "01695" "ABCA4_000164" "g.94495000C>A" "" "{PMID:Sangermano 2019:30643219}" "" "c.4539+1G>T p.(?)" "" "Unknown" "" "" "0" "" "" "g.94029444C>A" "" "pathogenic (recessive)" ""
"0000769401" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Sangermano 2019:30643219}" "" "c.768G>T p.(Leu257Valfs*17)c" "" "Unknown" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000769402" "1" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Sangermano 2019:30643219}" "" "c.[2588G>C;5603A>T] p.[Gly863Ala,Gly863del;Asn1868Ile]" "" "Unknown" "yes" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000769403" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Sangermano 2019:30643219}" "" "c.768G>T p.(Leu257Valfs*17)c" "" "Unknown" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000769404" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Sangermano 2019:30643219}" "" "c.[2588G>C;5603A>T] p.[Gly863Ala,Gly863del;Asn1868Ile]" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000769405" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Sangermano 2019:30643219}" "" "c.[1622T>C;3113C>T] p.[Leu541Pro;Ala1038Val]" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000769406" "0" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "" "{PMID:Sangermano 2019:30643219}" "" "c.4469G>A p.(Cys1490Tyr)" "" "Unknown" "" "" "0" "" "" "g.94029515C>T" "" "likely pathogenic (recessive)" ""
"0000769407" "1" "90" "1" "94578567" "94578567" "subst" "4.06204E-6" "01695" "ABCA4_000247" "g.94578567C>T" "" "{PMID:Bauwens 2019:30670881}" "" "c.[122G>A]" "" "Unknown" "yes" "" "0" "" "" "g.94113011C>T" "" "pathogenic (recessive)" ""
"0000769408" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Bauwens 2019:30670881}" "" "c.[2588G>C; 5603A>T]" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000769409" "1" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Bauwens 2019:30670881}" "" "c.[5461-10T>C; 5603A>T]" "" "Unknown" "yes" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000769410" "0" "90" "1" "94485145" "94485145" "subst" "0" "01695" "ABCA4_001015" "g.94485145C>T" "" "{PMID:Bauwens 2019:30670881}" "" "c.[5189G>A]" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94019589C>T" "" "pathogenic (recessive)" ""
"0000769411" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Bauwens 2019:30670881}" "" "c.[1622T>C; 3113C>T]" "" "Unknown" "yes" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000769412" "1" "90" "1" "94508997" "94508997" "subst" "0" "01695" "ABCA4_000112" "g.94508997G>A" "" "{PMID:Bauwens 2019:30670881}" "" "c.[3085C>T]" "" "Unknown" "yes" "" "0" "" "" "g.94043441G>A" "" "pathogenic (recessive)" ""
"0000769413" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Bauwens 2019:30670881}" "" "c.[5461-10T>C; 5603A>T]" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000769414" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Bauwens 2019:30670881}" "" "c.[2588G>C; 5603A>T]" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000769415" "0" "70" "1" "94485134" "94485137" "del" "0" "01695" "ABCA4_000462" "g.94485134_94485137del" "" "{PMID:Bauwens 2019:30670881}" "" "c.[5196+3_5196+6delAAGT]" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94019578_94019581del" "" "likely pathogenic (recessive)" ""
"0000769416" "0" "70" "1" "94471055" "94471055" "subst" "0.00035346" "01695" "ABCA4_000029" "g.94471055C>T" "" "{PMID:Bauwens 2019:30670881}" "" "c.[6089G>A]" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94005499C>T" "" "likely pathogenic (recessive)" ""
"0000769417" "1" "70" "1" "94506923" "94506923" "subst" "2.43657E-5" "01695" "ABCA4_000012" "g.94506923C>T" "" "{PMID:Bauwens 2019:30670881}" "" "c.[3364G>A]" "" "Unknown" "yes" "" "0" "" "" "g.94041367C>T" "" "likely pathogenic (recessive)" ""
"0000769418" "1" "70" "1" "94577102" "94577102" "subst" "4.06161E-6" "01695" "ABCA4_000033" "g.94577102C>T" "" "{PMID:Bauwens 2019:30670881}" "" "c.[194G>A]" "" "Unknown" "yes" "" "0" "" "" "g.94111546C>T" "" "likely pathogenic (recessive)" ""
"0000769419" "0" "90" "1" "94528132" "94528132" "subst" "4.06835E-6" "01695" "ABCA4_000773" "g.94528132C>T" "" "{PMID:Bauwens 2019:30670881}{PMID:Weisschuh 2020:32531858}" "" "c.[1937+1G>A]" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94062576C>T" "" "pathogenic (recessive)" ""
"0000769420" "0" "70" "1" "94490534" "94490534" "subst" "0.000125895" "01695" "ABCA4_000520" "g.94490534G>A" "" "{PMID:Bauwens 2019:30670881}" "" "c.[4610C>T]" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94024978G>A" "" "likely pathogenic (recessive)" ""
"0000769421" "1" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Bauwens 2019:30670881}" "" "c.[5882G>A]" "" "Unknown" "yes" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000769422" "1" "70" "1" "94471055" "94471055" "subst" "0.00035346" "01695" "ABCA4_000029" "g.94471055C>T" "" "{PMID:Bauwens 2019:30670881}" "" "c.[6089G>A]" "" "Unknown" "yes" "" "0" "" "" "g.94005499C>T" "" "likely pathogenic (recessive)" ""
"0000769423" "1" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Bauwens 2019:30670881}" "" "c.[6079C>T]" "" "Unknown" "yes" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic (recessive)" ""
"0000769424" "1" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Bauwens 2019:30670881}" "" "c.[4139C>T]" "" "Unknown" "yes" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000769425" "1" "70" "1" "94578618" "94578618" "subst" "0.000166918" "01695" "ABCA4_000252" "g.94578618C>T" "" "{PMID:Bauwens 2019:30670881}" "" "c.[71G>A; 5603A>T]" "" "Unknown" "yes" "" "0" "" "" "g.94113062C>T" "" "likely pathogenic (recessive)" ""
"0000769426" "1" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Bauwens 2019:30670881}" "" "c.[5882G>A]" "" "Unknown" "yes" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000769427" "0" "70" "1" "94493000" "94493000" "subst" "0" "01695" "ABCA4_000015" "g.94493000C>T" "" "{PMID:Bauwens 2019:30670881}" "" "c.[4539+2001G>A]" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94027444C>T" "" "likely pathogenic (recessive)" ""
"0000769428" "1" "90" "1" "94544209" "94544209" "subst" "0" "01695" "ABCA4_000113" "g.94544209C>T" "" "{PMID:Bauwens 2019:30670881}" "" "c.[1293G>A]" "" "Unknown" "yes" "" "0" "" "" "g.94078653C>T" "" "pathogenic (recessive)" ""
"0000769429" "1" "70" "1" "94493000" "94493000" "subst" "0" "01695" "ABCA4_000015" "g.94493000C>T" "" "{PMID:Bauwens 2019:30670881}" "" "c.[4539+2001G>A]" "" "Unknown" "yes" "" "0" "" "" "g.94027444C>T" "" "likely pathogenic (recessive)" ""
"0000769430" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Bauwens 2019:30670881}" "" "c.[5882G>A]" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000769431" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Bauwens 2019:30670881}" "" "c.[5714+5G>A;]" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000769432" "1" "90" "1" "94473278" "94473278" "del" "3.25908E-5" "01695" "ABCA4_000392" "g.94473278del" "" "{PMID:Bauwens 2019:30670881}" "" "c.[5917del]" "" "Unknown" "yes" "" "0" "" "" "g.94007722del" "" "pathogenic (recessive)" ""
"0000769433" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Bauwens 2019:30670881}" "" "c.[5714+5G>A]" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000769434" "1" "70" "1" "94480178" "94480178" "subst" "2.43692E-5" "01695" "ABCA4_000005" "g.94480178G>T" "" "{PMID:Bauwens 2019:30670881}" "" "c.[5381C>A]" "" "Unknown" "yes" "" "0" "" "" "g.94014622G>T" "" "likely pathogenic (recessive)" ""
"0000769435" "0" "90" "1" "94543348" "94543348" "del" "0" "01695" "ABCA4_001054" "g.94543348del" "" "{PMID:Bauwens 2019:30670881}" "" "c.[1454del]" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94077792del" "" "pathogenic (recessive)" ""
"0000769436" "1" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Bauwens 2019:30670881}" "" "c.[5461-10T>C; 5603A>T]" "" "Unknown" "yes" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000769437" "0" "90" "1" "94476454" "94476454" "subst" "4.062E-6" "01695" "ABCA4_001674" "g.94476454C>T" "" "{PMID:Bauwens 2019:30670881}" "" "c.[5616G>A]" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010898C>T" "" "pathogenic (recessive)" ""
"0000769438" "0" "70" "1" "94473281" "94473281" "subst" "0" "01695" "ABCA4_000393" "g.94473281C>T" "" "{PMID:Bauwens 2019:30670881}" "" "c.[5914G>A]" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94007725C>T" "" "likely pathogenic (recessive)" ""
"0000769439" "1" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Bauwens 2019:30670881}" "" "c.[5461-10T>C; 5603A>T]" "" "Unknown" "yes" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000769440" "1" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Bauwens 2019:30670881}" "" "c.[5461-10T>C; 5603A>T]" "" "Unknown" "yes" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000769441" "0" "90" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Bauwens 2019:30670881}" "" "c.[2894A>G]" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94046943T>C" "" "pathogenic (recessive)" ""
"0000769442" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Bauwens 2019:30670881}" "" "c.[5882G>A]" "no variant 2nd chromosome; no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000769443" "1" "90" "1" "94512510" "94512510" "del" "0" "01695" "ABCA4_000119" "g.94512510del" "" "{PMID:Bauwens 2019:30670881}" "" "c.[2884del; 5603A>T]" "" "Unknown" "yes" "" "0" "" "" "g.94046954del" "" "pathogenic (recessive)" ""
"0000769444" "1" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Bauwens 2019:30670881}" "" "c.[5461-10T>C; 5603A>T]" "" "Unknown" "yes" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000769445" "1" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Bauwens 2019:30670881}" "" "c.[5461-10T>C; 5603A>T]" "" "Unknown" "yes" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000769446" "1" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "" "{PMID:Bauwens 2019:30670881}" "" "c.[4469G>A; 5603A>T]" "" "Unknown" "yes" "" "0" "" "" "g.94029515C>T" "" "likely pathogenic (recessive)" ""
"0000769447" "1" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Bauwens 2019:30670881}" "" "c.[5461-10T>C; 5603A>T]" "" "Unknown" "yes" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000769448" "0" "70" "1" "94496547" "94496547" "subst" "1.21904E-5" "01695" "ABCA4_000560" "g.94496547C>T" "" "{PMID:Bauwens 2019:30670881}" "" "c.[4253+5G>A]" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94030991C>T" "" "likely pathogenic (recessive)" ""
"0000769449" "1" "70" "1" "94577010" "94577010" "subst" "1.22004E-5" "01695" "ABCA4_000224" "g.94577010T>C" "" "{PMID:Bauwens 2019:30670881}" "" "c.[286A>G]" "no variant 2nd chromosome" "Unknown" "yes" "" "0" "" "" "g.94111454T>C" "" "likely pathogenic (recessive)" ""
"0000769450" "0" "90" "1" "94473298" "94473298" "del" "0" "01695" "ABCA4_000396" "g.94473298del" "" "{PMID:Bauwens 2019:30670881}" "" "c.[5899-2del]" "no variant 2nd chromosome; no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94007742del" "" "pathogenic (recessive)" ""
"0000769451" "1" "70" "1" "94522239" "94522239" "subst" "2.03305E-5" "01695" "ABCA4_000736" "g.94522239A>T" "" "{PMID:Bauwens 2019:30670881}" "" "c.[2300T>A]" "" "Unknown" "yes" "" "0" "" "" "g.94056683A>T" "" "likely pathogenic (recessive)" ""
"0000769452" "0" "70" "1" "94546118" "94546118" "subst" "8.13326E-6" "01695" "ABCA4_000082" "g.94546118A>C" "" "{PMID:Bauwens 2019:30670881}" "" "c.[1015T>G; c.3608-7G>A]" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94080562A>C" "" "likely pathogenic (recessive)" ""
"0000769453" "1" "90" "1" "94512510" "94512510" "del" "0" "01695" "ABCA4_000119" "g.94512510del" "" "{PMID:Bauwens 2019:30670881}" "" "c.[2884del; 5603A>T]" "" "Unknown" "yes" "" "0" "" "" "g.94046954del" "" "pathogenic (recessive)" ""
"0000769454" "1" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Bauwens 2019:30670881}" "" "c.[5461-10T>C; 5603A>T]" "" "Unknown" "yes" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000769455" "0" "90" "1" "94466556" "94466556" "subst" "4.06164E-6" "01695" "ABCA4_000831" "g.94466556G>C" "" "{PMID:Bauwens 2019:30670881}" "" "c.[6386+2C>G]" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94001000G>C" "" "pathogenic (recessive)" ""
"0000769456" "0" "70" "1" "94546118" "94546118" "subst" "8.13326E-6" "01695" "ABCA4_000082" "g.94546118A>C" "" "{PMID:Bauwens 2019:30670881}" "" "c.[1015T>G; 3608-7G>A]" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94080562A>C" "" "likely pathogenic (recessive)" ""
"0000769457" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Bauwens 2019:30670881}" "" "c.[3322C>T]" "no variant 2nd chromosome; no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000769458" "1" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Bauwens 2019:30670881}" "" "c.[5461-10T>C]" "" "Unknown" "yes" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000769459" "1" "70" "1" "94463568" "94463603" "del" "0" "01695" "ABCA4_000805" "g.94463568_94463603del" "" "{PMID:Bauwens 2019:30670881}" "" "c.[6543_6578del]" "" "Unknown" "yes" "" "0" "" "" "g.93998012_93998047del" "" "likely pathogenic (recessive)" ""
"0000769460" "0" "90" "1" "94528251" "94528251" "subst" "2.84824E-5" "01695" "ABCA4_000281" "g.94528251C>T" "" "{PMID:Bauwens 2019:30670881}" "" "c.[1819G>A]" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94062695C>T" "" "pathogenic (recessive)" ""
"0000769461" "1" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Bauwens 2019:30670881}" "" "c.[.5461-10T>C; 5603A>T]" "" "Unknown" "yes" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000769462" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Bauwens 2019:30670881}" "" "c.[5714+5G>A]" "no variant 2nd chromosome; no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000769463" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Bauwens 2019:30670881}" "" "c.[5882G>A]" "no variant 2nd chromosome; no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000769464" "0" "70" "1" "94577102" "94577102" "subst" "4.06161E-6" "01695" "ABCA4_000033" "g.94577102C>T" "" "{PMID:Bauwens 2019:30670881}" "" "c.[194G>A]" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94111546C>T" "" "likely pathogenic (recessive)" ""
"0000769465" "0" "90" "1" "94476454" "94476454" "subst" "4.062E-6" "01695" "ABCA4_001674" "g.94476454C>T" "" "{PMID:Bauwens 2019:30670881}" "" "c.[5616G>A]" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010898C>T" "" "pathogenic (recessive)" ""
"0000769466" "0" "90" "1" "94508356" "94508356" "subst" "0" "01695" "ABCA4_000635" "g.94508356T>A" "" "{PMID:Bauwens 2019:30670881}" "" "c.[3289A>T]" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94042800T>A" "" "pathogenic (recessive)" ""
"0000769467" "0" "50" "1" "94476428" "94476428" "subst" "7.71699E-5" "01695" "ABCA4_000422" "g.94476428G>A" "" "{PMID:Bauwens 2019:30670881}" "" "c.[5642C>T]" "no variant 2nd chromosome; no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010872G>A" "" "VUS" ""
"0000769468" "0" "90" "1" "94528666" "94528666" "subst" "0" "01695" "ABCA4_002086" "g.94528666A>G" "" "{PMID:Bauwens 2019:30670881}" "" "c.[1760+2T>C]" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94063110A>G" "" "pathogenic (recessive)" ""
"0000769469" "0" "70" "1" "94487410" "94487410" "subst" "2.84257E-5" "01695" "ABCA4_001357" "g.94487410C>T" "" "{PMID:Bauwens 2019:30670881}" "" "c.[4765G>A]" "no variant 2nd chromosome; no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94021854C>T" "" "likely pathogenic (recessive)" ""
"0000769470" "0" "70" "1" "94495083" "94495083" "subst" "0.000124542" "01695" "ABCA4_000542" "g.94495083G>A" "" "{PMID:Bauwens 2019:30670881}" "" "c.[4457C>T]" "no variant 2nd chromosome; no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94029527G>A" "" "likely pathogenic (recessive)" ""
"0000769471" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Bauwens 2019:30670881}" "" "c.[1622T>C; 3113C>T]" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000769472" "1" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Bauwens 2019:30670881}" "" "c.[.5461-10T>C; 5603A>T]" "" "Unknown" "yes" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000769473" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sheremet 2018:30721205}" "" "c.5882 G>A p.G1961E" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000769474" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Sheremet 2018:30721205}" "" "c.[3113C>T;1622T>C] p.[A1038V;L541P]" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000769475" "0" "70" "1" "94496548" "94496548" "subst" "2.43787E-5" "01695" "ABCA4_000088" "g.94496548G>A" "" "{PMID:Riera 2019:30798147}" "" "c.4253 + 4C > T" "" "Unknown" "" "" "0" "" "" "g.94030992G>A" "" "likely pathogenic (recessive)" ""
"0000769476" "1" "50" "1" "94568627" "94568627" "subst" "0.000422314" "01695" "ABCA4_000207" "g.94568627C>T" "" "{PMID:Riera 2019:30798147} {PMID:Riera 2017:28181551}" "" "c.514G > A (p.Gly172Ser); c.2023G > A (p.Val675Ile); c.6148G > C (p.Val2050Leu)" "" "Unknown" "" "" "0" "" "" "g.94103071C>T" "" "VUS" ""
"0000769477" "1" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Riera 2017:28181551}" "" "c.1804C?>?T Arg602Trp" "" "Unknown" "" "" "0" "" "" "g.94062710G>A" "" "pathogenic (recessive)" ""
"0000769478" "1" "90" "1" "94476942" "94476942" "subst" "0" "01695" "ABCA4_001487" "g.94476942C>A" "" "{PMID:Riera 2017:28181551}" "" "c.5461-1G?>?T Splicing" "" "Unknown" "" "" "0" "" "" "g.94011386C>A" "" "pathogenic (recessive)" ""
"0000769479" "1" "90" "1" "94497474" "94497474" "subst" "0" "01695" "ABCA4_000583" "g.94497474C>A" "" "{PMID:Riera 2017:28181551}" "" "c.3988G?>?T Glu1330Ter" "" "Unknown" "" "" "0" "" "" "g.94031918C>A" "" "pathogenic (recessive)" ""
"0000769480" "1" "90" "1" "94526212" "94526212" "subst" "1.22012E-5" "01695" "ABCA4_000075" "g.94526212G>A" "" "{PMID:Riera 2017:28181551}" "" "c.2041C?>?T Arg681Ter" "" "Unknown" "" "" "0" "" "" "g.94060656G>A" "" "pathogenic (recessive)" ""
"0000769481" "3" "90" "1" "94586601" "94586601" "subst" "8.12156E-6" "01695" "ABCA4_000264" "g.94586601T>C" "" "{PMID:Tayebi 2019:30820146}" "" "c.1A>G p.(Met1?)" "" "Unknown" "" "" "0" "" "" "g.94121045T>C" "" "pathogenic (recessive)" ""
"0000769482" "0" "90" "1" "94473189" "94473189" "subst" "0" "01695" "ABCA4_000386" "g.94473189C>T" "" "{PMID:Tayebi 2019:30820146}" "" "c.6005+1G>A p.?" "" "Unknown" "" "" "0" "" "" "g.94007633C>T" "" "pathogenic (recessive)" ""
"0000769483" "0" "70" "1" "94495078" "94495078" "subst" "8.37044E-6" "01695" "ABCA4_000042" "g.94495078A>G" "" "{PMID:Tayebi 2019:30820146}" "" "c.4462T>C p.(Cys1488Arg)" "" "Unknown" "" "" "0" "" "" "g.94029522A>G" "" "likely pathogenic (recessive)" ""
"0000769484" "3" "70" "1" "94466559" "94466559" "subst" "0" "01695" "ABCA4_000833" "g.94466559T>C" "" "{PMID:Tayebi 2019:30820146}" "" "c.6385A>G p.(Ser2129Gly)" "" "Unknown" "" "" "0" "" "" "g.94001003T>C" "" "likely pathogenic (recessive)" ""
"0000769485" "3" "90" "1" "94509033" "94509033" "subst" "0" "01695" "ABCA4_001957" "g.94509033T>C" "" "{PMID:Tayebi 2019:30820146}" "" "c.3051–2A>G p.?" "" "Unknown" "" "" "0" "" "" "g.94043477T>C" "" "pathogenic (recessive)" ""
"0000769486" "3" "90" "1" "94497333" "94497333" "subst" "0" "01695" "ABCA4_001221" "g.94497333C>T" "" "{PMID:Tayebi 2019:30820146}" "" "c.4128+1G>A p.?" "" "Unknown" "" "" "0" "" "" "g.94031777C>T" "" "pathogenic (recessive)" ""
"0000769487" "1" "70" "1" "94486896" "94486896" "subst" "3.65562E-5" "01695" "ABCA4_000085" "g.94486896G>A" "" "{PMID:Tanna 2019:30834176}" "" "c.4918C.T;c.4222T.C p.Arg1640Trp;p.Trp1408Arg" "" "Unknown" "" "" "0" "" "" "g.94021340G>A" "" "likely pathogenic (recessive)" ""
"0000769488" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Tanna 2019:30834176}" "" "c.5461-10T.C" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000769489" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Tanna 2019:30834176}" "" "c.4139C.T p.Pro1380Leu" "" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000769490" "0" "70" "1" "94466480" "94466480" "subst" "4.06088E-6" "01695" "ABCA4_000827" "g.94466480C>T" "" "{PMID:Tanna 2019:30834176}" "" "c.6391G.A p.Glu2131Lys" "" "Unknown" "" "" "0" "" "" "g.94000924C>T" "" "likely pathogenic (recessive)" ""
"0000769491" "0" "70" "1" "94487251" "94487251" "subst" "2.85679E-5" "01695" "ABCA4_000490" "g.94487251G>T" "" "{PMID:Tanna 2019:30834176}" "" "c.4793C.A p.Ala1598Asp" "" "Unknown" "" "" "0" "" "" "g.94021695G>T" "" "likely pathogenic (recessive)" ""
"0000769492" "0" "50" "1" "94487490" "94487490" "subst" "0.00122268" "01695" "ABCA4_000506" "g.94487490A>G" "" "{PMID:Tanna 2019:30834176}" "" "c.4685T.C p.Ile1562Thr" "" "Unknown" "" "" "0" "" "" "g.94021934A>G" "" "VUS" ""
"0000769493" "0" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "" "{PMID:Tanna 2019:30834176}" "" "c.4469G.A p.Cys1490Tyr" "" "Unknown" "" "" "0" "" "" "g.94029515C>T" "" "likely pathogenic (recessive)" ""
"0000769494" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Tanna 2019:30834176}" "" "c.5461-10T.C" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000769495" "3" "70" "1" "94544249" "94544249" "subst" "8.12196E-6" "01695" "ABCA4_000323" "g.94544249A>G" "" "{PMID:Tanna 2019:30834176}" "" "c.1253T.C p.Phe418Ser" "" "Unknown" "" "" "0" "" "" "g.94078693A>G" "" "likely pathogenic (recessive)" ""
"0000769496" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Tanna 2019:30834176}" "" "c.3322C.T p.Arg1108Cys" "" "Unknown" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000769497" "3" "70" "1" "94577082" "94577082" "subst" "2.84315E-5" "01695" "ABCA4_000232" "g.94577082C>T" "" "{PMID:Tanna 2019:30834176}" "" "c.214G.A p.Gly72Arg" "" "Unknown" "" "" "0" "" "" "g.94111526C>T" "" "likely pathogenic (recessive)" ""
"0000769498" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Tanna 2019:30834176}" "" "c.5882G.A p.Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000769499" "0" "70" "1" "94544249" "94544249" "subst" "8.12196E-6" "01695" "ABCA4_000323" "g.94544249A>G" "" "{PMID:Tanna 2019:30834176}" "" "c.1253T.C p.Phe418Ser" "" "Unknown" "" "" "0" "" "" "g.94078693A>G" "" "likely pathogenic (recessive)" ""
"0000769500" "0" "70" "1" "94528780" "94528780" "subst" "4.06171E-6" "01695" "ABCA4_000299" "g.94528780C>T" "" "{PMID:Tanna 2019:30834176}" "" "c.1648G.A p.Gly550Arg" "" "Unknown" "" "" "0" "" "" "g.94063224C>T" "" "likely pathogenic (recessive)" ""
"0000769501" "0" "70" "1" "94476853" "94476853" "subst" "4.06243E-6" "01695" "ABCA4_000429" "g.94476853A>G" "" "{PMID:Tanna 2019:30834176}" "" "c.5549T.C p.Leu1850Pro" "" "Unknown" "" "" "0" "" "" "g.94011297A>G" "" "likely pathogenic (recessive)" ""
"0000769502" "0" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "" "{PMID:Tanna 2019:30834176}" "" "c.4469G.A p.Cys1490Tyr" "" "Unknown" "" "" "0" "" "" "g.94029515C>T" "" "likely pathogenic (recessive)" ""
"0000769503" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Tanna 2019:30834176}" "" "c.768G.T p.Val256Val," "" "Unknown" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000769504" "3" "70" "1" "94577082" "94577082" "subst" "2.84315E-5" "01695" "ABCA4_000232" "g.94577082C>T" "" "{PMID:Tanna 2019:30834176}" "" "c.214G.A p.Gly72Arg" "" "Unknown" "" "" "0" "" "" "g.94111526C>T" "" "likely pathogenic (recessive)" ""
"0000769505" "0" "90" "1" "94466426" "94466426" "subst" "1.62433E-5" "01695" "ABCA4_000124" "g.94466426G>A" "" "{PMID:Tanna 2019:30834176}" "" "c.6445C.T p.Arg2149Ter" "" "Unknown" "" "" "0" "" "" "g.94000870G>A" "" "pathogenic (recessive)" ""
"0000769506" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Tanna 2019:30834176}" "" "c.1622T.C;c.3113C.T p.Leu541Pro;p.Ala1038Val" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000769507" "3" "70" "1" "94490573" "94490573" "subst" "0" "01695" "ABCA4_001789" "g.94490573T>C" "" "{PMID:Tanna 2019:30834176}" "" "c.4571A.G p.Asp1524Gly" "" "Unknown" "" "" "0" "" "" "g.94025017T>C" "" "likely pathogenic (recessive)" ""
"0000769508" "0" "90" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Tanna 2019:30834176}" "" "c.6320G.A p.Arg2107His" "" "Unknown" "" "" "0" "" "" "g.94001068C>T" "" "pathogenic (recessive)" ""
"0000769509" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Tanna 2019:30834176}" "" "c.5882G.A p.Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000769510" "0" "70" "1" "94495078" "94495078" "subst" "8.37044E-6" "01695" "ABCA4_000042" "g.94495078A>G" "" "{PMID:Tanna 2019:30834176}" "" "c.4462T.C p.Cys1488Arg" "" "Unknown" "" "" "0" "" "" "g.94029522A>G" "" "likely pathogenic (recessive)" ""
"0000769511" "0" "90" "1" "94586576" "94586576" "dup" "0" "01695" "ABCA4_002252" "g.94586576dup" "" "{PMID:Tanna 2019:30834176}" "" "c.29_30insT p.Leu10PhefsTer44" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94121020dup" "" "pathogenic (recessive)" ""
"0000769512" "0" "90" "1" "94458800" "94458800" "subst" "0" "01695" "ABCA4_001557" "g.94458800T>G" "" "{PMID:Tanna 2019:30834176}" "" "c.6817-2A.C" "" "Unknown" "" "" "0" "" "" "g.93993244T>G" "" "pathogenic (recessive)" ""
"0000769513" "1" "70" "1" "94486896" "94486896" "subst" "3.65562E-5" "01695" "ABCA4_000085" "g.94486896G>A" "" "{PMID:Tanna 2019:30834176}" "" "c.4918C.T;c.4222T.C p.Arg1640Trp;p.Trp1408Arg" "" "Unknown" "" "" "0" "" "" "g.94021340G>A" "" "likely pathogenic (recessive)" ""
"0000769514" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Tanna 2019:30834176}" "" "c.5461-10T.C" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000769515" "0" "70" "1" "94492936" "94492936" "subst" "0" "01695" "ABCA4_001083" "g.94492936G>C" "" "{PMID:Tanna 2019:30834176}" "" "c.4539+2065C.G" "" "Unknown" "" "" "0" "" "" "g.94027380G>C" "" "likely pathogenic (recessive)" ""
"0000769516" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Tanna 2019:30834176}" "" "c.5461-10T.C" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000769517" "0" "90" "1" "94485173" "94485174" "del" "0" "01695" "ABCA4_000468" "g.94485173_94485174del" "" "{PMID:Tanna 2019:30834176}" "" "c.5161_5162delAC p.Thr1721HisfsTer65" "" "Unknown" "" "" "0" "" "" "g.94019617_94019618del" "" "pathogenic (recessive)" ""
"0000769518" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Tanna 2019:30834176}" "" "c.3113C.T;c.1622T.C p.Ala1038Val;p.Leu541Pro" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000769519" "3" "70" "1" "94509018" "94509018" "subst" "8.12869E-6" "01695" "ABCA4_000659" "g.94509018C>T" "" "{PMID:Tanna 2019:30834176}" "" "c.3064G.A p.Glu1022Lys" "" "Unknown" "" "" "0" "" "" "g.94043462C>T" "" "likely pathogenic (recessive)" ""
"0000769520" "1" "50" "1" "94502756" "94502756" "subst" "0.000422575" "01695" "ABCA4_000032" "g.94502756G>A" "" "{PMID:Tanna 2019:30834176}" "" "c.5882G.A;c.3758C.T p.Gly1961Glu;p.Thr1253Met" "" "Unknown" "" "" "0" "" "" "g.94037200G>A" "" "VUS" ""
"0000769521" "3" "70" "1" "94463399" "94463413" "del" "0" "01695" "ABCA4_000851" "g.94463399_94463413del" "" "{PMID:Tanna 2019:30834176}" "" "c.6729+5_19delGTTGGCCCTGGGGCA" "" "Unknown" "" "" "0" "" "" "g.93997843_93997857del" "" "likely pathogenic (recessive)" ""
"0000769522" "3" "70" "1" "94463399" "94463413" "del" "0" "01695" "ABCA4_000851" "g.94463399_94463413del" "" "{PMID:Tanna 2019:30834176}" "" "c.6729+5_19delGTTGGCCCTGGGGCA" "" "Unknown" "" "" "0" "" "" "g.93997843_93997857del" "" "likely pathogenic (recessive)" ""
"0000769523" "0" "70" "1" "94544249" "94544249" "subst" "8.12196E-6" "01695" "ABCA4_000323" "g.94544249A>G" "" "{PMID:Tanna 2019:30834176}" "" "c.1253T.C p.Phe418Ser" "" "Unknown" "" "" "0" "" "" "g.94078693A>G" "" "likely pathogenic (recessive)" ""
"0000769524" "0" "90" "1" "94546248" "94546248" "del" "2.03666E-5" "01695" "ABCA4_000352" "g.94546248del" "" "{PMID:Tanna 2019:30834176}" "" "c.885delC p.Asp295AspfsTer5" "" "Unknown" "" "" "0" "" "" "g.94080692del" "" "pathogenic (recessive)" ""
"0000769525" "0" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "" "{PMID:Tanna 2019:30834176}" "" "c.4469G.A p.Cys1490Tyr" "" "Unknown" "" "" "0" "" "" "g.94029515C>T" "" "likely pathogenic (recessive)" ""
"0000769526" "3" "70" "1" "94577082" "94577082" "subst" "2.84315E-5" "01695" "ABCA4_000232" "g.94577082C>T" "" "{PMID:Tanna 2019:30834176}" "" "c.214G.A p.Gly72Arg" "" "Unknown" "" "" "0" "" "" "g.94111526C>T" "" "likely pathogenic (recessive)" ""
"0000769527" "0" "90" "1" "94466625" "94466625" "subst" "1.62559E-5" "01695" "ABCA4_000839" "g.94466625G>A" "" "{PMID:Tanna 2019:30834176}" "" "c.6319C.T p.Arg2107Cys" "" "Unknown" "" "" "0" "" "" "g.94001069G>A" "" "pathogenic (recessive)" ""
"0000769528" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Tanna 2019:30834176}" "" "c.3322C.T p.Arg1108Cys" "" "Unknown" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000769529" "0" "90" "1" "94485173" "94485174" "del" "0" "01695" "ABCA4_000468" "g.94485173_94485174del" "" "{PMID:Tanna 2019:30834176}" "" "c.5161_5162delAC p.Thr1721HisfsTer65" "" "Unknown" "" "" "0" "" "" "g.94019617_94019618del" "" "pathogenic (recessive)" ""
"0000769530" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Tanna 2019:30834176}" "" "c.768G.T p.Val256Val," "" "Unknown" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000769531" "0" "90" "1" "94473789" "94473789" "subst" "0" "01695" "ABCA4_001644" "g.94473789A>G" "" "{PMID:Tanna 2019:30834176}" "" "c.5898+2T.C" "" "Unknown" "" "" "0" "" "" "g.94008233A>G" "" "pathogenic (recessive)" ""
"0000769532" "0" "70" "1" "94484001" "94484001" "subst" "0" "01695" "ABCA4_000016" "g.94484001C>T" "" "{PMID:Tanna 2019:30834176}" "" "c.5196+1137G.A" "" "Unknown" "" "" "0" "" "" "g.94018445C>T" "" "likely pathogenic (recessive)" ""
"0000769533" "0" "50" "1" "94476495" "94476495" "subst" "0" "01695" "ABCA4_000424" "g.94476495A>G" "" "{PMID:Bax 2019:30903310}" "" "c.5585-10T>C p.(?)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94010939A>G" "" "VUS" ""
"0000769534" "3" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Bax 2019:30903310}" "" "c.[1622 T>C;3113C>T] p.[Leu541Pro;Ala1038Val]" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000769535" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Bax 2019:30903310}" "" "c.5882G>A p.(Gly1961Glu)" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000769536" "0" "90" "1" "94495000" "94495000" "subst" "0" "01695" "ABCA4_000164" "g.94495000C>A" "" "{PMID:Bax 2019:30903310}" "" "c.4539+1G>T p.(?)" "" "Unknown" "" "" "0" "" "" "g.94029444C>A" "" "pathogenic (recessive)" ""
"0000769537" "0" "70" "1" "94471055" "94471055" "subst" "0.00035346" "01695" "ABCA4_000029" "g.94471055C>T" "" "{PMID:Bax 2019:30903310}" "" "c.6089G>A p.(Arg2030Gln)" "" "Unknown" "" "" "0" "" "" "g.94005499C>T" "" "likely pathogenic (recessive)" ""
"0000769538" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Bax 2019:30903310}" "" "c.2588G>C p.[Gly863Ala,Gly863del]" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000769539" "0" "90" "1" "94508386" "94508386" "subst" "1.62443E-5" "01695" "ABCA4_000642" "g.94508386C>T" "" "{PMID:Bax 2019:30903310}" "" "c.3259G>A p.(Glu1087*)" "" "Unknown" "" "" "0" "" "" "g.94042830C>T" "" "pathogenic (recessive)" ""
"0000769540" "0" "90" "1" "94508386" "94508386" "subst" "1.62443E-5" "01695" "ABCA4_000642" "g.94508386C>T" "" "{PMID:Bax 2019:30903310}" "" "c.3259G>A p.(Glu1087*)" "" "Unknown" "" "" "0" "" "" "g.94042830C>T" "" "pathogenic (recessive)" ""
"0000769541" "0" "90" "1" "94474381" "94474382" "dup" "0" "01695" "ABCA4_000409" "g.94474381_94474382dup" "" "{PMID:Bax 2019:30903310}" "" "c.5762_5763dup p.(Ala1922Trpfs*18)" "" "Unknown" "" "" "0" "" "" "g.94008825_94008826dup" "" "pathogenic (recessive)" ""
"0000769542" "0" "90" "1" "94495000" "94495000" "subst" "0" "01695" "ABCA4_000164" "g.94495000C>A" "" "{PMID:Bax 2019:30903310}" "" "c.4539+1G>T p.(?)" "" "Unknown" "" "" "0" "" "" "g.94029444C>A" "" "pathogenic (recessive)" ""
"0000769543" "0" "90" "1" "94497588" "94497588" "subst" "4.153E-6" "01695" "ABCA4_000049" "g.94497588G>A" "" "{PMID:Bax 2019:30903310}" "" "c.3874C>T p.(Gln1292*)" "" "Unknown" "" "" "0" "" "" "g.94032032G>A" "" "pathogenic (recessive)" ""
"0000769544" "0" "70" "1" "94484001" "94484001" "subst" "0" "01695" "ABCA4_000016" "g.94484001C>T" "" "{PMID:Bax 2019:30903310}" "" "c.5196+1137G>A p.(?)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94018445C>T" "" "likely pathogenic (recessive)" ""
"0000769545" "0" "90" "1" "94481294" "94481294" "subst" "0" "01695" "ABCA4_000110" "g.94481294C>T" "" "{PMID:Bax 2019:30903310}" "" "c.5312+1G>A p.(?)" "" "Unknown" "" "" "0" "" "" "g.94015738C>T" "" "pathogenic (recessive)" ""
"0000769546" "0" "90" "1" "94485173" "94485174" "del" "0" "01695" "ABCA4_000468" "g.94485173_94485174del" "" "{PMID:Bax 2019:30903310}" "" "c.5161_5162del p.(Thr1721Hisfs*65)" "" "Unknown" "" "" "0" "" "" "g.94019617_94019618del" "" "pathogenic (recessive)" ""
"0000769547" "0" "90" "1" "94497588" "94497588" "subst" "4.153E-6" "01695" "ABCA4_000049" "g.94497588G>A" "" "{PMID:Bax 2019:30903310}" "" "c.3874C>T p.(Gln1292*)" "" "Unknown" "" "" "0" "" "" "g.94032032G>A" "" "pathogenic (recessive)" ""
"0000769548" "0" "70" "1" "94577082" "94577082" "subst" "2.84315E-5" "01695" "ABCA4_000232" "g.94577082C>T" "" "{PMID:Bax 2019:30903310}" "" "c.214G>A p.(Gly72Arg)" "" "Unknown" "" "" "0" "" "" "g.94111526C>T" "" "likely pathogenic (recessive)" ""
"0000769549" "0" "90" "1" "94487401" "94487401" "subst" "4.06085E-6" "01695" "ABCA4_000995" "g.94487401C>T" "" "{PMID:Bax 2019:30903310}" "" "c.4773+1G>A p.(?)" "" "Unknown" "" "" "0" "" "" "g.94021845C>T" "" "pathogenic (recessive)" ""
"0000769550" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Bax 2019:30903310}" "" "c.768G>T p.(?)" "" "Unknown" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000769551" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Bax 2019:30903310}" "" "c.768G>T p.(?)" "" "Unknown" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000769552" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Bax 2019:30903310}" "" "c.[1622T>C;3113C>T] p.[Leu541Pro;Ala1038Val]" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000769553" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Bax 2019:30903310}" "" "c.5714+5G>A p.(?)" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000769554" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Bax 2019:30903310}" "" "c.5714+5G>A p.(?)" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000769555" "0" "70" "1" "94546261" "94546261" "subst" "0.000648567" "01695" "ABCA4_000353" "g.94546261G>A" "" "{PMID:Bax 2019:30903310}" "" "c.[872C>T;4224G>T] p.[Pro291Leu;Trp1408Cys]" "" "Unknown" "" "" "0" "" "" "g.94080705G>A" "" "likely pathogenic (recessive)" ""
"0000769556" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Bax 2019:30903310}" "" "c.768G>T p.(?)" "" "Unknown" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000769557" "0" "70" "1" "94510272" "94510272" "subst" "4.06062E-6" "01695" "ABCA4_000070" "g.94510272T>C" "" "{PMID:Bax 2019:30903310}" "" "c.2947A>G p.(Thr983Ala)" "" "Unknown" "" "" "0" "" "" "g.94044716T>C" "" "likely pathogenic (recessive)" ""
"0000769558" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Bax 2019:30903310}" "" "c.768G>T p.(?)" "" "Unknown" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000769559" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Bax 2019:30903310}" "" "c.5461-10T>C p.(Thr1821Valfs*13,Thr1821Aspfs*6)" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000769560" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Bax 2019:30903310}" "" "c.5882G>A p.(Gly1961Glu)" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000769561" "3" "70" "1" "94577082" "94577082" "subst" "2.84315E-5" "01695" "ABCA4_000232" "g.94577082C>T" "" "{PMID:Nasser 2019:30945053}" "" "c.214G[A;p.Gly72Arg" "" "Unknown" "" "" "0" "" "" "g.94111526C>T" "" "likely pathogenic (recessive)" ""
"0000769562" "0" "70" "1" "94528164" "94528164" "subst" "0" "01695" "ABCA4_001311" "g.94528164G>T" "" "{PMID:Kim 2019:31144483}" "" "c.1906C>A p.Q636K" "" "Unknown" "" "" "0" "" "" "g.94062608G>T" "" "likely pathogenic (recessive)" ""
"0000769563" "0" "70" "1" "94487427" "94487427" "subst" "8.12176E-6" "01695" "ABCA4_001339" "g.94487427A>G" "" "{PMID:Kim 2019:31144483}" "" "c.4748T>C p.L1583P" "" "Unknown" "" "" "0" "" "" "g.94021871A>G" "" "likely pathogenic (recessive)" ""
"0000769564" "0" "90" "1" "94471001" "94471001" "del" "0" "01695" "ABCA4_001337" "g.94471001del" "" "{PMID:Kim 2019:31144483}" "" "c.6146delA p.R2049fs" "" "Unknown" "" "" "0" "" "" "g.94005445del" "" "pathogenic (recessive)" ""
"0000769565" "0" "90" "1" "94471001" "94471001" "del" "0" "01695" "ABCA4_001337" "g.94471001del" "" "{PMID:Kim 2019:31144483}" "" "c.6146delA p.R2049fs" "" "Unknown" "" "" "0" "" "" "g.94005445del" "" "pathogenic (recessive)" ""
"0000769566" "0" "70" "1" "94506867" "94506867" "subst" "0" "01695" "ABCA4_001296" "g.94506867G>C" "" "{PMID:Kim 2019:31144483}" "" "c.3420C>G p.C1140W" "" "Unknown" "" "" "0" "" "" "g.94041311G>C" "" "likely pathogenic (recessive)" ""
"0000769567" "0" "70" "1" "94506867" "94506867" "subst" "0" "01695" "ABCA4_001296" "g.94506867G>C" "" "{PMID:Kim 2019:31144483}" "" "c.3420C>G p.C1140W" "" "Unknown" "" "" "0" "" "" "g.94041311G>C" "" "likely pathogenic (recessive)" ""
"0000769568" "0" "90" "1" "94506817" "94506817" "subst" "0" "01695" "ABCA4_001342" "g.94506817A>C" "" "{PMID:Kim 2019:31144483}" "" "c.3470T>G p.L1157X" "" "Unknown" "" "" "0" "" "" "g.94041261A>C" "" "pathogenic (recessive)" ""
"0000769569" "0" "70" "1" "94487413" "94487413" "subst" "0" "01695" "ABCA4_001338" "g.94487413T>A" "" "{PMID:Kim 2019:31144483}" "" "c.4762A>T p.N1588Y" "" "Unknown" "" "" "0" "" "" "g.94021857T>A" "" "likely pathogenic (recessive)" ""
"0000769570" "1" "50" "1" "94576926" "94576926" "subst" "0" "01695" "ABCA4_000219" "g.94576926G>A" "" "{PMID:Albert 2018:29526278}" "" "c.302+68C>T (p.?)" "" "Unknown" "" "" "0" "" "" "g.94111370G>A" "" "VUS" ""
"0000769571" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Khan 2019:31212395}" "" "c.[1622T>C;3113C>T] p.[(Leu541Pro;Ala1038Val)]" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000769572" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2019:31212395}" "" "c.5603A>T p.(Asn1868Ile)" "no variant 2nd chromosome; no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000769573" "0" "70" "1" "94496509" "94496509" "subst" "0.00475243" "01695" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Khan 2019:31212395}" "" "c.4253+43G>A p.[=,Ile1377Hisfs*3]" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94030953C>T" "" "likely pathogenic (recessive)" ""
"0000769574" "0" "90" "1" "94495983" "94495983" "subst" "8.12348E-6" "01695" "ABCA4_000547" "g.94495983C>T" "" "{PMID:Khan 2019:31212395}" "" "c.4352+1G>A p.(?)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94030427C>T" "" "pathogenic (recessive)" ""
"0000769575" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Khan 2019:31212395}" "" "c.5882G>A p.(Gly1961Glu)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000769576" "0" "90" "1" "94463488" "94463488" "subst" "5.2803E-5" "01695" "ABCA4_000802" "g.94463488G>A" "" "{PMID:Khan 2019:31212395}" "" "c.6658C>T p.(Gln2220*)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.93997932G>A" "" "pathogenic (recessive)" ""
"0000769577" "0" "90" "1" "94485159" "94485159" "dup" "0" "01695" "ABCA4_001453" "g.94485159dup" "" "{PMID:Khan 2019:31212395}" "" "c.5175dup p.(Thr1726Aspfs*61)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94019603dup" "" "pathogenic (recessive)" ""
"0000769578" "0" "70" "1" "94471055" "94471055" "subst" "0.00035346" "01695" "ABCA4_000029" "g.94471055C>T" "" "{PMID:Khan 2019:31212395}" "" "c.6089G>A p.(Arg2030Gln)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94005499C>T" "" "likely pathogenic (recessive)" ""
"0000769579" "1" "50" "1" "94578529" "94578529" "subst" "0" "01695" "ABCA4_000245" "g.94578529A>C" "" "{PMID:Khan 2019:31212395}" "" "c.[160T>G;5603A>T] p.[Cys54Gly;Asn1868Ile]" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94112973A>C" "" "VUS" ""
"0000769580" "1" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Khan 2019:31212395}" "" "c.[5461-10T>C;5603A>T] p.[Thr1821Aspfs*6,Thr1821Valfs*13;(Asn1868Ile)]" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000769581" "1" "70" "1" "94577117" "94577117" "subst" "1.62472E-5" "01695" "ABCA4_000237" "g.94577117G>A" "" "{PMID:Khan 2019:31212395}" "" "c.[179C>T;5693G>A] p.[Ala60Val;Arg1898His]" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94111561G>A" "" "likely pathogenic (recessive)" ""
"0000769582" "0" "50" "1" "94514477" "94514477" "subst" "0.00118992" "01695" "ABCA4_000700" "g.94514477G>A" "" "{PMID:Khan 2019:31212395}" "" "c.2690C>T p.(Thr897Ile)" "no variant 2nd chromosome; no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94048921G>A" "" "VUS" ""
"0000769583" "0" "50" "1" "94487404" "94487404" "subst" "0.00244055" "01695" "ABCA4_000497" "g.94487404C>T" "" "{PMID:Khan 2019:31212395}" "" "c.4771G>A p.(Gly1591Arg)" "no variant 2nd chromosome; no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94021848C>T" "" "VUS" ""
"0000769584" "0" "50" "1" "94487404" "94487404" "subst" "0.00244055" "01695" "ABCA4_000497" "g.94487404C>T" "" "{PMID:Khan 2019:31212395}" "" "c.4771G>A p.(Gly1591Arg)" "no variant 2nd chromosome; no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94021848C>T" "" "VUS" ""
"0000769585" "0" "50" "1" "94506910" "94506910" "subst" "4.06098E-6" "01695" "ABCA4_000105" "g.94506910A>G" "" "{PMID:Khan 2019:31212395}" "" "c.3377T>C p.(Leu1126Pro)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94041354A>G" "" "VUS" ""
"0000769586" "0" "70" "1" "94471032" "94471032" "subst" "1.62553E-5" "01695" "ABCA4_000792" "g.94471032G>A" "" "{PMID:Khan 2019:31212395}" "" "c.6112C>T p.(Arg2038Trp)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94005476G>A" "" "likely pathogenic (recessive)" ""
"0000769587" "0" "90" "1" "94473278" "94473278" "del" "3.25908E-5" "01695" "ABCA4_000392" "g.94473278del" "" "{PMID:Khan 2019:31212395}" "" "c.5917del p.(Val1973*)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94007722del" "" "pathogenic (recessive)" ""
"0000769588" "0" "90" "1" "94473278" "94473278" "del" "3.25908E-5" "01695" "ABCA4_000392" "g.94473278del" "" "{PMID:Khan 2019:31212395}" "" "c.5917del p.(Val1973*)" "no variant 2nd chromosome; no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94007722del" "" "pathogenic (recessive)" ""
"0000769589" "0" "70" "1" "94522239" "94522239" "subst" "2.03305E-5" "01695" "ABCA4_000736" "g.94522239A>T" "" "{PMID:Khan 2019:31212395}" "" "c.2300T>A p.(Val767Asp)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94056683A>T" "" "likely pathogenic (recessive)" ""
"0000769590" "0" "70" "1" "94577135" "94577135" "subst" "2.43718E-5" "01695" "ABCA4_000240" "g.94577135C>T" "" "{PMID:Khan 2019:31212395}" "" "c.161G>A p.[Cys54Tyr,?]" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94111579C>T" "" "likely pathogenic (recessive)" ""
"0000769591" "0" "50" "1" "94473222" "94473222" "subst" "8.14578E-6" "01695" "ABCA4_001043" "g.94473222C>G" "" "{PMID:Khan 2019:31212395}" "" "c.5973G>C# p.(=)" "no variant 2nd chromosome; no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94007666C>G" "" "VUS" ""
"0000769592" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Khan 2019:31212395}" "" "c.5882G>A p.(Gly1961Glu)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000769593" "0" "50" "1" "94568686" "94568686" "subst" "0.00258122" "01695" "ABCA4_000212" "g.94568686C>T" "" "{PMID:Khan 2019:31212395}" "" "c.455G>A p.(Arg152Gln)" "no variant 2nd chromosome; no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94103130C>T" "" "VUS" ""
"0000769594" "0" "50" "1" "94528142" "94528142" "subst" "0.00153303" "01695" "ABCA4_000125" "g.94528142A>C" "" "{PMID:Khan 2019:31212395}" "" "c.1928T>G p.(Val643Gly)" "no variant 2nd chromosome; no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94062586A>C" "" "VUS" ""
"0000769595" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Khan 2019:31212395}" "" "c.5882G>A p.(Gly1961Glu)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000769596" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Khan 2019:31212395}" "" "c.[1622T>C;3113C>T] p.[(Leu541Pro;Ala1038Val)]" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000769597" "0" "10" "1" "94463617" "94463617" "subst" "0.0109114" "01695" "ABCA4_000013" "g.94463617C>T" "" "{PMID:Khan 2019:31212395}" "" "c.6529G>A p.(Asp2177Asn)" "no variant 2nd chromosome; no segregation analysis done" "Unknown" "" "" "0" "" "" "g.93998061C>T" "" "benign" ""
"0000769598" "0" "70" "1" "94546177" "94546177" "subst" "0" "01695" "ABCA4_001047" "g.94546177A>C" "" "{PMID:Khan 2019:31212395}" "" "c.956T>G p.(Leu319Arg)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94080621A>C" "" "likely pathogenic (recessive)" ""
"0000769599" "0" "70" "1" "94528709" "94528709" "subst" "0" "01695" "ABCA4_001049" "g.94528709C>T" "" "{PMID:Khan 2019:31212395}" "" "c.1719G>A p.(Met573Ile)" "no variant 2nd chromosome; no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94063153C>T" "" "likely pathogenic (recessive)" ""
"0000769600" "1" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Khan 2019:31212395}" "" "c.[5461-10T>C;5603A>T] p.[Thr1821Aspfs*6,Thr1821Valfs*13;(Asn1868Ile)]" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000769601" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Khan 2019:31212395}" "" "c.5882G>A p.(Gly1961Glu)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000769602" "0" "70" "1" "94496548" "94496548" "subst" "2.43787E-5" "01695" "ABCA4_000088" "g.94496548G>A" "" "{PMID:Khan 2019:31212395}" "" "c.4253+4C>T p.(?)" "no variant 2nd chromosome; no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94030992G>A" "" "likely pathogenic (recessive)" ""
"0000769603" "1" "70" "1" "94486896" "94486896" "subst" "3.65562E-5" "01695" "ABCA4_000085" "g.94486896G>A" "" "{PMID:Khan 2019:31212395}" "" "c.[4918C>T;5693G>A] p.[Arg1640Trp;Arg1898His]" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94021340G>A" "" "likely pathogenic (recessive)" ""
"0000769604" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Khan 2019:31212395}" "" "c.5882G>A p.(Gly1961Glu)" "no variant 2nd chromosome; no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000769605" "0" "90" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Khan 2019:31212395}" "" "c.2894A>G p.(Asn965Ser)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94046943T>C" "" "pathogenic (recessive)" ""
"0000769606" "0" "90" "1" "94543348" "94543348" "del" "0" "01695" "ABCA4_001054" "g.94543348del" "" "{PMID:Khan 2019:31212395}" "" "c.1454del p.(Gly485Alafs*83)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94077792del" "" "pathogenic (recessive)" ""
"0000769607" "1" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Khan 2019:31212395}" "" "c.[2588G>C;5603A>T] p.[Gly863Ala,Gly863del;(Asn1868Ile)]" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000769608" "0" "90" "1" "94578624" "94578624" "subst" "4.07408E-6" "01695" "ABCA4_001055" "g.94578624T>C" "" "{PMID:Khan 2019:31212395}" "" "c.67-2A>G p.(?)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94113068T>C" "" "pathogenic (recessive)" ""
"0000769609" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Khan 2019:31212395}" "" "c.768G>T p.(Leu257Valfs*17)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000769610" "0" "90" "1" "94544209" "94544209" "subst" "0" "01695" "ABCA4_000113" "g.94544209C>T" "" "{PMID:Khan 2019:31212395}" "" "c.1293G>A p.(Trp431*)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94078653C>T" "" "pathogenic (recessive)" ""
"0000769611" "0" "90" "1" "94526296" "94526296" "subst" "1.64555E-5" "01695" "ABCA4_000768" "g.94526296G>A" "" "{PMID:Khan 2019:31212395}" "" "c.1957C>T p.(Arg653Cys)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94060740G>A" "" "pathogenic (recessive)" ""
"0000769612" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Khan 2019:31212395}" "" "c.[1622T>C;3113C>T] p.[(Leu541Pro;Ala1038Val)]" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000769613" "0" "50" "1" "94487404" "94487404" "subst" "0.00244055" "01695" "ABCA4_000497" "g.94487404C>T" "" "{PMID:Khan 2019:31212395}" "" "c.4771G>A p.(Gly1591Arg)" "no variant 2nd chromosome; no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94021848C>T" "" "VUS" ""
"0000769614" "0" "50" "1" "94485269" "94485269" "subst" "0" "01695" "ABCA4_000146" "g.94485269A>G" "" "{PMID:Khan 2019:31212395}" "" "c.5065T>C p.(Ser1689Pro)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94019713A>G" "" "VUS" ""
"0000769615" "0" "50" "1" "94483979" "94483979" "subst" "0" "01695" "ABCA4_000018" "g.94483979C>T" "" "{PMID:Khan 2019:31212395}" "" "c.5196+1159G>A [p.(?)]" "no variant 2nd chromosome; no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94018423C>T" "" "VUS" ""
"0000769616" "0" "50" "1" "94487404" "94487404" "subst" "0.00244055" "01695" "ABCA4_000497" "g.94487404C>T" "" "{PMID:Khan 2019:31212395}" "" "c.4771G>A p.(Gly1591Arg)" "no variant 2nd chromosome; no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94021848C>T" "" "VUS" ""
"0000769617" "0" "50" "1" "94473287" "94473287" "subst" "0.00293818" "01695" "ABCA4_000395" "g.94473287G>A" "" "{PMID:Khan 2019:31212395}" "" "c.5908C>T p.(Leu1970Phe)" "no variant 2nd chromosome; no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94007731G>A" "" "VUS" ""
"0000769618" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Khan 2019:31212395}" "" "c.[1622T>C;3113C>T] p.[(Leu541Pro;Ala1038Val)]" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000769619" "0" "70" "1" "94471055" "94471055" "subst" "0.00035346" "01695" "ABCA4_000029" "g.94471055C>T" "" "{PMID:Khan 2019:31212395}" "" "c.6089G>A p.(Arg2030Gln)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94005499C>T" "" "likely pathogenic (recessive)" ""
"0000769620" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Khan 2019:31212395}" "" "c.1804C>T p.(Arg602Trp)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94062710G>A" "" "pathogenic (recessive)" ""
"0000769621" "1" "90" "1" "94508356" "94508356" "subst" "0" "01695" "ABCA4_000635" "g.94508356T>A" "" "{PMID:Khan 2019:31212395}" "" "c.3289A>T p.(Arg1097*)" "" "Unknown" "yes" "" "0" "" "" "g.94042800T>A" "" "pathogenic (recessive)" ""
"0000769622" "1" "50" "1" "94517266" "94517266" "subst" "0.00217349" "01695" "ABCA4_001057" "g.94517266G>C" "" "{PMID:Khan 2019:31212395}" "" "c.[2588-12C>G;3085C>T] p.[p.?;(Gln1029*)]" "" "Unknown" "yes" "" "0" "" "" "g.94051710G>C" "" "VUS" ""
"0000769623" "0" "70" "1" "94528679" "94528679" "subst" "2.84368E-5" "01695" "ABCA4_000292" "g.94528679C>G" "" "{PMID:Khan 2019:31212395}" "" "c.1749G>C p.(Lys583Asn)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94063123C>G" "" "likely pathogenic (recessive)" ""
"0000769624" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Khan 2019:31212395}" "" "c.2588G>C p.[Gly863Ala,Gly863del]" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000769625" "1" "70" "1" "94476893" "94476893" "subst" "0" "01695" "ABCA4_001059" "g.94476893G>A" "" "{PMID:Khan 2019:31212395}" "" "c.5509C>T p.(Pro1837Ser)" "" "Unknown" "yes" "" "0" "" "" "g.94011337G>A" "" "likely pathogenic (recessive)" ""
"0000769626" "1" "90" "1" "94486794" "94486794" "subst" "0" "01695" "ABCA4_000478" "g.94486794A>G" "" "{PMID:Khan 2019:31212395}" "" "c.5018+2T>C p.(?)" "" "Unknown" "yes" "" "0" "" "" "g.94021238A>G" "" "pathogenic (recessive)" ""
"0000769627" "0" "90" "1" "94564383" "94564383" "subst" "0" "01695" "ABCA4_000371" "g.94564383A>C" "" "{PMID:Khan 2019:31212395}" "" "c.735T>G p.(Tyr245*)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94098827A>C" "" "pathogenic (recessive)" ""
"0000769628" "1" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Khan 2019:31212395}" "" "c.5714+5G>A p.[=,Glu1863Leufs*33]" "" "Unknown" "yes" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000769629" "0" "70" "1" "94467476" "94467476" "subst" "0" "01695" "ABCA4_000781" "g.94467476C>T" "" "{PMID:Khan 2019:31212395}" "" "c.6220G>A p.(Gly2074Ser)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94001920C>T" "" "likely pathogenic (recessive)" ""
"0000769630" "0" "50" "1" "94564462" "94564462" "subst" "4.06775E-5" "01695" "ABCA4_000380" "g.94564462C>G" "" "{PMID:Khan 2019:31212395}" "" "c.656G>C(;)2588G>C(;)5603A>T p.[Gly863Ala,Gly863del](;)(Asn1868Ile)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94098906C>G" "" "VUS" ""
"0000769631" "1" "90" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Khan 2019:31212395}" "" "c.6320G>A p.(Arg2107His)" "" "Unknown" "yes" "" "0" "" "" "g.94001068C>T" "" "pathogenic (recessive)" ""
"0000769632" "1" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Khan 2019:31212395}" "" "c.4139C>T p.(Pro1380Leu)" "" "Unknown" "yes" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000769633" "1" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Khan 2019:31212395}" "" "c.[2588G>C;5603A>T] p.[Gly863Ala,Gly863del;(Asn1868Ile)]" "" "Unknown" "yes" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000769634" "1" "70" "1" "94480178" "94480178" "subst" "2.43692E-5" "01695" "ABCA4_000005" "g.94480178G>T" "" "{PMID:Khan 2019:31212395}" "" "c.5381C>A p.(Ala1794Asp)" "" "Unknown" "yes" "" "0" "" "" "g.94014622G>T" "" "likely pathogenic (recessive)" ""
"0000769635" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Khan 2019:31212395}" "" "c.2588G>C(;)5603A>T p.[Gly863Ala,Gly863del];(Asn1868Ile)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000769636" "0" "90" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Khan 2019:31212395}" "" "c.634C>T p.(Arg212Cys)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94098928G>A" "" "pathogenic (recessive)" ""
"0000769637" "1" "70" "1" "94496583" "94496583" "subst" "2.03092E-5" "01695" "ABCA4_000190" "g.94496583A>G" "" "{PMID:Khan 2019:31212395}" "" "c.[4222T>C;4918C>T] p.[Trp1408Arg;Arg1640Trp]" "" "Unknown" "yes" "" "0" "" "" "g.94031027A>G" "" "likely pathogenic (recessive)" ""
"0000769638" "1" "70" "1" "94486965" "94486965" "subst" "0" "01695" "ABCA4_001063" "g.94486965C>T" "" "{PMID:Khan 2019:31212395}" "" "c.4849G>A p.(Val1617Alafs*113,Val1617Met)" "" "Unknown" "yes" "" "0" "" "" "g.94021409C>T" "" "likely pathogenic (recessive)" ""
"0000769639" "0" "50" "1" "94487404" "94487404" "subst" "0.00244055" "01695" "ABCA4_000497" "g.94487404C>T" "" "{PMID:Khan 2019:31212395}" "" "c.4771G>A p.(Gly1591Arg)" "no variant 2nd chromosome; no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94021848C>T" "" "VUS" ""
"0000769640" "3" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Khan 2019:31212395}" "" "c.5461-10T>C(;)5603A>T p.[Thr1821Aspfs*6,Thr1821Valfs*13](;)(Asn1868Ile)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000769641" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Khan 2019:31212395}" "" "c.5714+5G>A p.[=,Glu1863Leufs*33]" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000769642" "0" "50" "1" "94467548" "94467548" "subst" "0.00295661" "01695" "ABCA4_000788" "g.94467548C>G" "" "{PMID:Khan 2019:31212395}" "" "c.6148G>C p.(Val2050Leu)" "no variant 2nd chromosome; no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94001992C>G" "" "VUS" ""
"0000769643" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Khan 2019:31212395}" "" "c.5882G>A p.(Gly1961Glu)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000769644" "1" "70" "1" "94564408" "94564408" "subst" "4.06128E-6" "01695" "ABCA4_001066" "g.94564408A>G" "" "{PMID:Khan 2019:31212395}" "" "c.710T>C p.(Leu237Pro)" "" "Unknown" "yes" "" "0" "" "" "g.94098852A>G" "" "likely pathogenic (recessive)" ""
"0000769645" "0" "10" "1" "94505604" "94505604" "subst" "0.00645586" "01695" "ABCA4_000092" "g.94505604A>C" "" "{PMID:Khan 2019:31212395}" "" "c.3602T>G# p.(Leu1201Arg)" "no variant 2nd chromosome; no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94040048A>C" "" "benign" ""
"0000769646" "0" "70" "1" "94471055" "94471055" "subst" "0.00035346" "01695" "ABCA4_000029" "g.94471055C>T" "" "{PMID:Khan 2019:31212395}" "" "c.6089G>A p.(Arg2030Gln)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94005499C>T" "" "likely pathogenic (recessive)" ""
"0000769647" "1" "70" "1" "94520684" "94520684" "subst" "0" "01695" "ABCA4_001069" "g.94520684A>G" "" "{PMID:Khan 2019:31212395}" "" "c.2570T>C p.(Leu857Pro)" "" "Unknown" "yes" "" "0" "" "" "g.94055128A>G" "" "likely pathogenic (recessive)" ""
"0000769648" "0" "90" "1" "94486794" "94486794" "subst" "0" "01695" "ABCA4_000478" "g.94486794A>G" "" "{PMID:Khan 2019:31212395}" "" "c.5018+2T>C p.(?)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94021238A>G" "" "pathogenic (recessive)" ""
"0000769649" "0" "90" "1" "94497495" "94497495" "del" "0" "01695" "ABCA4_000584" "g.94497495del" "" "{PMID:Khan 2019:31212395}" "" "c.3970del p.(Ala1324Argfs*65)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94031939del" "" "pathogenic (recessive)" ""
"0000769650" "1" "90" "1" "94480248" "94480248" "del" "0" "01695" "ABCA4_001056" "g.94480248del" "" "{PMID:Khan 2019:31212395}" "" "c.5313-2del p.(?)" "" "Unknown" "yes" "" "0" "" "" "g.94014692del" "" "pathogenic (recessive)" ""
"0000769651" "1" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Khan 2019:31212395}" "" "c.3386G>T p.(Arg1129Leu)" "" "Unknown" "yes" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000769652" "1" "70" "1" "94546118" "94546118" "subst" "8.13326E-6" "01695" "ABCA4_000082" "g.94546118A>C" "" "{PMID:Khan 2019:31212395}" "" "c.1015T>G p.(Trp339Gly)" "" "Unknown" "yes" "" "0" "" "" "g.94080562A>C" "" "likely pathogenic (recessive)" ""
"0000769653" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Khan 2019:31212395}" "" "c.2588G>C(;)5603A>T p.[Gly863Ala,Gly863del](;)(Asn1868Ile)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000769654" "1" "70" "1" "94496583" "94496583" "subst" "2.03092E-5" "01695" "ABCA4_000190" "g.94496583A>G" "" "{PMID:Khan 2019:31212395}" "" "c.[4222T>C;4918C>T] p.[Trp1408Arg;Arg1640Trp]" "" "Unknown" "yes" "" "0" "" "" "g.94031027A>G" "" "likely pathogenic (recessive)" ""
"0000769655" "1" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Khan 2019:31212395}" "" "c.[5461-10T>C;5603A>T] p.[Thr1821Aspfs*6,Thr1821Valfs*13;(Asn1868Ile)]" "" "Unknown" "yes" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000769656" "1" "70" "1" "94508322" "94508322" "subst" "1.62513E-5" "01695" "ABCA4_000128" "g.94508322C>T" "" "{PMID:Khan 2019:31212395}" "" "c.3323G>A p.(Arg1108His)" "" "Unknown" "yes" "" "0" "" "" "g.94042766C>T" "" "likely pathogenic (recessive)" ""
"0000769657" "0" "70" "1" "94544249" "94544249" "subst" "8.12196E-6" "01695" "ABCA4_000323" "g.94544249A>G" "" "{PMID:Khan 2019:31212395}" "" "c.1253T>C p.(Phe418Ser)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94078693A>G" "" "likely pathogenic (recessive)" ""
"0000769658" "0" "70" "1" "94471046" "94471046" "subst" "0" "01695" "ABCA4_000793" "g.94471046A>C" "" "{PMID:Khan 2019:31212395}" "" "c.6098T>G p.(Leu2033Arg)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94005490A>C" "" "likely pathogenic (recessive)" ""
"0000769659" "1" "50" "1" "94520723" "94520723" "subst" "0" "01695" "ABCA4_000716" "g.94520723A>C" "" "{PMID:Khan 2019:31212395}" "" "c.2531T>G p.(Leu844Arg)" "" "Unknown" "yes" "" "0" "" "" "g.94055167A>C" "" "VUS" ""
"0000769660" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Khan 2019:31212395}" "" "c.5882G>A p.(Gly1961Glu)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000769661" "0" "10" "1" "94463617" "94463617" "subst" "0.0109114" "01695" "ABCA4_000013" "g.94463617C>T" "" "{PMID:Khan 2019:31212395}" "" "c.6529G>A p.(Asp2177Asn)" "no variant 2nd chromosome; no segregation analysis done" "Unknown" "" "" "0" "" "" "g.93998061C>T" "" "benign" ""
"0000769662" "0" "90" "1" "94508435" "94508436" "dup" "0" "01695" "ABCA4_000998" "g.94508435_94508436dup" "" "{PMID:Khan 2019:31212395}" "" "c.3210_3211dup p.(Ser1071Cysfs*14)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94042879_94042880dup" "" "pathogenic (recessive)" ""
"0000769663" "1" "70" "1" "94546111" "94546111" "subst" "0" "01695" "ABCA4_000340" "g.94546111T>C" "" "{PMID:Khan 2019:31212395}" "" "c.1022A>G p.(Glu341Gly)" "" "Unknown" "yes" "" "0" "" "" "g.94080555T>C" "" "likely pathogenic (recessive)" ""
"0000769664" "1" "90" "1" "94564383" "94564383" "subst" "0" "01695" "ABCA4_000371" "g.94564383A>C" "" "{PMID:Khan 2019:31212395}" "" "c.735T>G p.(Tyr245*)" "" "Unknown" "yes" "" "0" "" "" "g.94098827A>C" "" "pathogenic (recessive)" ""
"0000769665" "0" "70" "1" "94544253" "94544253" "subst" "0" "01695" "ABCA4_001075" "g.94544253T>C" "" "{PMID:Khan 2019:31212395}" "" "c.1249A>G p.(Thr417Ala)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94078697T>C" "" "likely pathogenic (recessive)" ""
"0000769666" "1" "70" "1" "94564432" "94564432" "subst" "0" "01695" "ABCA4_001029" "g.94564432A>G" "" "{PMID:Khan 2019:31212395}" "" "c.[686T>C;6529G>A] p.[(Leu229Pro;Asp2177Asn)]" "" "Unknown" "yes" "" "0" "" "" "g.94098876A>G" "" "likely pathogenic (recessive)" ""
"0000769667" "0" "90" "1" "94497334" "94497334" "subst" "0" "01695" "ABCA4_001076" "g.94497334C>G" "" "{PMID:Khan 2019:31212395}" "" "c.4128G>C p.(Gln1376_Ile1377ins4)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94031778C>G" "" "pathogenic (recessive)" ""
"0000769668" "0" "90" "1" "94467468" "94467468" "del" "0" "01695" "ABCA4_001077" "g.94467468del" "" "{PMID:Khan 2019:31212395}" "" "c.6228del p.(Lys2076Asnfs*39)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94001912del" "" "pathogenic (recessive)" ""
"0000769669" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Khan 2019:31212395}" "" "c.5882G>A p.(Gly1961Glu)" "no variant 2nd chromosome; no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000769670" "0" "50" "1" "94483979" "94483979" "subst" "0" "01695" "ABCA4_000018" "g.94483979C>T" "" "{PMID:Khan 2019:31212395}" "" "c.5196+1159G>A [p.(?)]" "no variant 2nd chromosome; no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94018423C>T" "" "VUS" ""
"0000769671" "1" "50" "1" "94568686" "94568686" "subst" "0.00258122" "01695" "ABCA4_000212" "g.94568686C>T" "" "{PMID:Khan 2019:31212395}" "" "c.[455G>A;1609C>T] p.[(Arg152Gln;Arg537Cys)]" "" "Unknown" "yes" "" "0" "" "" "g.94103130C>T" "" "VUS" ""
"0000769672" "1" "90" "1" "94520690" "94520690" "subst" "2.03102E-5" "01695" "ABCA4_000149" "g.94520690C>T" "" "{PMID:Khan 2019:31212395}" "" "c.2564G>A p.(Trp855*)" "" "Unknown" "yes" "" "0" "" "" "g.94055134C>T" "" "pathogenic (recessive)" ""
"0000769673" "0" "70" "1" "94496547" "94496547" "subst" "4.06345E-6" "01695" "ABCA4_000559" "g.94496547C>A" "" "{PMID:Khan 2019:31212395}" "" "c.4253+5G>T p.[Ile1377Hisfs*3,=]" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94030991C>A" "" "likely pathogenic (recessive)" ""
"0000769674" "0" "90" "1" "94492937" "94492937" "subst" "0" "01695" "ABCA4_000529" "g.94492937G>A" "" "{PMID:Khan 2019:31212395}" "" "c.4539+2064C>T p.[=,Arg1514Leufs*36]" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94027381G>A" "" "pathogenic (recessive)" ""
"0000769675" "0" "10" "1" "94463617" "94463617" "subst" "0.0109114" "01695" "ABCA4_000013" "g.94463617C>T" "" "{PMID:Khan 2019:31212395}" "" "c.6529G>A p.(Asp2177Asn)" "no variant 2nd chromosome; no segregation analysis done" "Unknown" "" "" "0" "" "" "g.93998061C>T" "" "benign" ""
"0000769676" "0" "90" "1" "94485137" "94485137" "subst" "0" "01695" "ABCA4_000464" "g.94485137C>T" "" "{PMID:Khan 2019:31212395}" "" "c.5196+1G>A p.(?)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94019581C>T" "" "pathogenic (recessive)" ""
"0000769677" "0" "50" "1" "94549602" "94549602" "subst" "0" "01695" "ABCA4_001070" "g.94549602A>G" "" "{PMID:Khan 2019:31212395}" "" "c.769-605T>C# [p.(=)]" "no variant 2nd chromosome; no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94084046A>G" "" "VUS" ""
"0000769678" "1" "90" "1" "94517248" "94517249" "del" "0" "01695" "ABCA4_001079" "g.94517248_94517249del" "" "{PMID:Khan 2019:31212395}" "" "c.2594_2595del p.(Tyr865Trpfs*19)" "" "Unknown" "yes" "" "0" "" "" "g.94051692_94051693del" "" "pathogenic (recessive)" ""
"0000769679" "1" "70" "1" "94520760" "94520760" "subst" "0" "01695" "ABCA4_001080" "g.94520760C>A" "" "{PMID:Khan 2019:31212395}" "" "c.2494G>T p.(Asp832Tyr)" "" "Unknown" "yes" "" "0" "" "" "g.94055204C>A" "" "likely pathogenic (recessive)" ""
"0000769680" "0" "50" "1" "94549602" "94549602" "subst" "0" "01695" "ABCA4_001070" "g.94549602A>G" "" "{PMID:Khan 2019:31212395}" "" "c.769-605T>C# [p.(=)]" "no variant 2nd chromosome; no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94084046A>G" "" "VUS" ""
"0000769681" "0" "90" "1" "94467460" "94467461" "del" "0" "01695" "ABCA4_000778" "g.94467460_94467461del" "" "{PMID:Khan 2019:31212395}" "" "c.6238_6239del p.(Ser2080Hisfs*16)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94001904_94001905del" "" "pathogenic (recessive)" ""
"0000769682" "1" "90" "1" "94574132" "94574132" "subst" "4.06151E-6" "01695" "ABCA4_001082" "g.94574132C>T" "" "{PMID:Khan 2019:31212395}" "" "c.[442+1G>A;4297G>A] p.[(?;Val1433Ile)]" "" "Unknown" "yes" "" "0" "" "" "g.94108576C>T" "" "pathogenic (recessive)" ""
"0000769683" "1" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Khan 2019:31212395}" "" "c.[5461-10T>C;5603A>T] p.[Thr1821Aspfs*6,Thr1821Valfs*13;(Asn1868Ile)]" "" "Unknown" "yes" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000769684" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Khan 2019:31212395}" "" "c.2588G>C(;)5603A>T p.[Gly863Ala,Gly863del(;)(Asn1868Ile)]" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000769685" "0" "50" "1" "94467548" "94467548" "subst" "0.00295661" "01695" "ABCA4_000788" "g.94467548C>G" "" "{PMID:Khan 2019:31212395}" "" "[c.6148G>C] [p.(Val2050Leu)]" "no variant 2nd chromosome; no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94001992C>G" "" "VUS" ""
"0000769686" "0" "90" "1" "94495001" "94495001" "subst" "0" "01695" "ABCA4_001064" "g.94495001C>T" "" "{PMID:Khan 2019:31212395}" "" "c.4539G>A p.(Cys1490Glufs*12,=)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94029445C>T" "" "pathogenic (recessive)" ""
"0000769687" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Khan 2019:31212395}" "" "c.1622T>C(;)3113C>T p.(Leu541Pro)(;)(Ala1038Val)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000769688" "0" "90" "1" "94506789" "94506789" "del" "0" "01695" "ABCA4_001086" "g.94506789del" "" "{PMID:Khan 2019:31212395}" "" "c.3499del p.(Gln1167Argfs*29)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94041233del" "" "pathogenic (recessive)" ""
"0000769689" "0" "70" "1" "94471055" "94471055" "subst" "0.00035346" "01695" "ABCA4_000029" "g.94471055C>T" "" "{PMID:Khan 2019:31212395}" "" "c.6089G>A p.(Arg2030Gln)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94005499C>T" "" "likely pathogenic (recessive)" ""
"0000769690" "0" "70" "1" "94487399" "94487399" "subst" "7.30959E-5" "01695" "ABCA4_000038" "g.94487399T>C" "" "{PMID:Khan 2019:31212395}" "" "c.4773+3A>G p.[Tyr1557Alafs*18,=]" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94021843T>C" "" "likely pathogenic (recessive)" ""
"0000769691" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Khan 2019:31212395}" "" "c.5714+5G>A p.[=;Glu1863Leufs*33]" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000769692" "0" "50" "1" "94467548" "94467548" "subst" "0.00295661" "01695" "ABCA4_000788" "g.94467548C>G" "" "{PMID:Khan 2019:31212395}" "" "c.6148G>C# p.(Val2050Leu)" "no variant 2nd chromosome; no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94001992C>G" "" "VUS" ""
"0000769693" "1" "50" "1" "94568686" "94568686" "subst" "0.00258122" "01695" "ABCA4_000212" "g.94568686C>T" "" "{PMID:Khan 2019:31212395}" "" "c.[455G>A;3322C>T;6320G>A] p.[Arg152Gln;Arg1108Cys;Arg2107His]" "" "Unknown" "yes" "" "0" "" "" "g.94103130C>T" "" "VUS" ""
"0000769694" "0" "10" "1" "94497563" "94497563" "subst" "0.00492504" "01695" "ABCA4_000090" "g.94497563C>T" "" "{PMID:Khan 2019:31212395}" "" "c.3899G>A p.(Arg1300Gln)" "no variant 2nd chromosome; no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94032007C>T" "" "benign" ""
"0000769695" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Khan 2019:31212395}" "" "c.[3113C>T;4070C>T] p.[(Ala1038Val;Ala1357Val)]" "" "Unknown" "yes" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000769696" "0" "10" "1" "94463617" "94463617" "subst" "0.0109114" "01695" "ABCA4_000013" "g.94463617C>T" "" "{PMID:Khan 2019:31212395}" "" "c.6529G>A# p.(Asp2177Asn)" "no variant 2nd chromosome; no segregation analysis done" "Unknown" "" "" "0" "" "" "g.93998061C>T" "" "benign" ""
"0000769697" "0" "70" "1" "94480178" "94480178" "subst" "2.43692E-5" "01695" "ABCA4_000005" "g.94480178G>T" "" "{PMID:Khan 2019:31212395}" "" "c.5381C>A p.(Ala1794Asp)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94014622G>T" "" "likely pathogenic (recessive)" ""
"0000769698" "1" "90" "1" "94492937" "94492937" "subst" "0" "01695" "ABCA4_000529" "g.94492937G>A" "" "{PMID:Khan 2019:31212395}" "" "c.4539+2064C>T p.[=,Arg1514Leufs*36]" "" "Unknown" "yes" "" "0" "" "" "g.94027381G>A" "" "pathogenic (recessive)" ""
"0000769699" "3" "70" "1" "94520684" "94520684" "subst" "0" "01695" "ABCA4_001069" "g.94520684A>G" "" "{PMID:Khan 2019:31318848}" "" "c.5882G.A; p.G1961E/c.2570T.C;pL857P" "" "Unknown" "" "" "0" "" "" "g.94055128A>G" "" "likely pathogenic (recessive)" ""
"0000769700" "3" "70" "1" "94502891" "94502891" "subst" "0" "01695" "ABCA4_001882" "g.94502891A>C" "" "{PMID:Khan 2019:31318848}" "" "c.3623T.G; p.L1208R" "" "Unknown" "" "" "0" "" "" "g.94037335A>C" "" "likely pathogenic (recessive)" ""
"0000769701" "3" "70" "1" "94502891" "94502891" "subst" "0" "01695" "ABCA4_001882" "g.94502891A>C" "" "{PMID:Khan 2019:31318848}" "" "c.3623T.G; p.L1208R" "" "Unknown" "" "" "0" "" "" "g.94037335A>C" "" "likely pathogenic (recessive)" ""
"0000769702" "3" "70" "1" "94520684" "94520684" "subst" "0" "01695" "ABCA4_001069" "g.94520684A>G" "" "{PMID:Khan 2019:31318848}" "" "c.5882G.A; p.G1961E/c.2570T.C; pL857P" "" "Unknown" "" "" "0" "" "" "g.94055128A>G" "" "likely pathogenic (recessive)" ""
"0000769703" "3" "70" "1" "94520684" "94520684" "subst" "0" "01695" "ABCA4_001069" "g.94520684A>G" "" "{PMID:Khan 2019:31318848}" "" "c.5882G.A; p.G1961E/c.2570T.C; pL857P" "" "Unknown" "" "" "0" "" "" "g.94055128A>G" "" "likely pathogenic (recessive)" ""
"0000769704" "3" "70" "1" "94520684" "94520684" "subst" "0" "01695" "ABCA4_001069" "g.94520684A>G" "" "{PMID:Khan 2019:31318848}" "" "c.5882G.A; p.G1961E/c.2570T.C; pL857P" "" "Unknown" "" "" "0" "" "" "g.94055128A>G" "" "likely pathogenic (recessive)" ""
"0000769705" "3" "70" "1" "94520684" "94520684" "subst" "0" "01695" "ABCA4_001069" "g.94520684A>G" "" "{PMID:Khan 2019:31318848}" "" "c.5882G.A; p.G1961E/c.2570T.C; pL857P" "" "Unknown" "" "" "0" "" "" "g.94055128A>G" "" "likely pathogenic (recessive)" ""
"0000769706" "3" "70" "1" "94520684" "94520684" "subst" "0" "01695" "ABCA4_001069" "g.94520684A>G" "" "{PMID:Khan 2019:31318848}" "" "c.5882G.A; p.G1961E/c.2570T.C; pL857P" "" "Unknown" "" "" "0" "" "" "g.94055128A>G" "" "likely pathogenic (recessive)" ""
"0000769707" "3" "90" "1" "94490577" "94490577" "subst" "0" "01695" "ABCA4_001791" "g.94490577G>A" "" "{PMID:Khan 2019:31318848}" "" "c.4567C.t; p.Q1523*" "" "Unknown" "" "" "0" "" "" "g.94025021G>A" "" "pathogenic (recessive)" ""
"0000769708" "3" "70" "1" "94520684" "94520684" "subst" "0" "01695" "ABCA4_001069" "g.94520684A>G" "" "{PMID:Khan 2019:31318848}" "" "c.5882G.A; p.G1961E/c.2570T.C;pL857P" "" "Unknown" "" "" "0" "" "" "g.94055128A>G" "" "likely pathogenic (recessive)" ""
"0000769709" "3" "70" "1" "94520684" "94520684" "subst" "0" "01695" "ABCA4_001069" "g.94520684A>G" "" "{PMID:Khan 2019:31318848}" "" "c.5882G.A; p.G1961E/c.2570T.C;pL857P" "" "Unknown" "" "" "0" "" "" "g.94055128A>G" "" "likely pathogenic (recessive)" ""
"0000769710" "3" "70" "1" "94520684" "94520684" "subst" "0" "01695" "ABCA4_001069" "g.94520684A>G" "" "{PMID:Khan 2019:31318848}" "" "c.5882G.A; p.G1961E/c.2570T.C;pL857P" "" "Unknown" "" "" "0" "" "" "g.94055128A>G" "" "likely pathogenic (recessive)" ""
"0000769711" "3" "70" "1" "94520684" "94520684" "subst" "0" "01695" "ABCA4_001069" "g.94520684A>G" "" "{PMID:Khan 2019:31318848}" "" "c.5882G.A; p.G1961E/c.2570T.C; pL857P" "" "Unknown" "" "" "0" "" "" "g.94055128A>G" "" "likely pathogenic (recessive)" ""
"0000769712" "3" "70" "1" "94520684" "94520684" "subst" "0" "01695" "ABCA4_001069" "g.94520684A>G" "" "{PMID:Khan 2019:31318848}" "" "c.5882G.A; p.G1961E/c.2570T.C; pL857P" "" "Unknown" "" "" "0" "" "" "g.94055128A>G" "" "likely pathogenic (recessive)" ""
"0000769713" "3" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Khan 2019:31318848}" "" "c.5882G.A; p.G1961E" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000769714" "3" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Khan 2019:31318848}" "" "c.5882G.A; p.G1961E" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000769715" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Khan 2019:31318848}" "" "c.5882G.A; p.G1961E" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000769716" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Khan 2019:31318848}" "" "c.5882G.A; p.G1961E" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000769717" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Khan 2019:31318848}" "" "c.5882G.A; p.G1961E" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000769718" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Khan 2019:31318848}" "" "c.5882G.A; p.G1961E" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000769719" "0" "90" "1" "94514510" "94514510" "del" "0" "01695" "ABCA4_001998" "g.94514510del" "" "{PMID:Khan 2019:31318848}" "" "c.2657del; p.C886Ffs*15" "" "Unknown" "" "" "0" "" "" "g.94048954del" "" "pathogenic (recessive)" ""
"0000769720" "3" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Khan 2019:31318848}" "" "c.5882G.A; p.G1961E" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000769721" "0" "70" "1" "94577135" "94577135" "subst" "2.43718E-5" "01695" "ABCA4_000240" "g.94577135C>T" "" "{PMID:Fadaie 2019:31397521}" "" "c.161G>A" "" "Unknown" "" "" "0" "" "" "g.94111579C>T" "" "likely pathogenic (recessive)" ""
"0000769722" "0" "70" "1" "94577135" "94577135" "subst" "2.43718E-5" "01695" "ABCA4_000240" "g.94577135C>T" "" "{PMID:Fadaie 2019:31397521}" "" "c.161G>A" "" "Unknown" "" "" "0" "" "" "g.94111579C>T" "" "likely pathogenic (recessive)" ""
"0000769723" "3" "90" "1" "94528128" "94528128" "subst" "0" "01695" "ABCA4_001258" "g.94528128C>T" "" "{PMID:Fadaie 2019:31397521}" "" "c.1937+5G>A" "" "Unknown" "" "" "0" "" "" "g.94062572C>T" "" "pathogenic (recessive)" ""
"0000769724" "0" "90" "1" "94526934" "94526934" "subst" "0" "01695" "ABCA4_000771" "g.94526934T>C" "" "{PMID:Fadaie 2019:31397521}" "" "c.1938?619A>G" "" "Unknown" "" "" "0" "" "" "g.94061378T>C" "" "pathogenic (recessive)" ""
"0000769725" "0" "70" "1" "94522386" "94522386" "subst" "0" "01695" "ABCA4_000746" "g.94522386C>T" "" "{PMID:Fadaie 2019:31397521}" "" "c.2161?8G>A" "" "Unknown" "" "" "0" "" "" "g.94056830C>T" "" "likely pathogenic (recessive)" ""
"0000769726" "0" "90" "1" "94511126" "94511126" "subst" "0" "01695" "ABCA4_001257" "g.94511126A>T" "" "{PMID:Fadaie 2019:31397521}" "" "c.2919?826T>A" "" "Unknown" "" "" "0" "" "" "g.94045570A>T" "" "pathogenic (recessive)" ""
"0000769727" "0" "90" "1" "94509799" "94509799" "subst" "0" "01695" "ABCA4_000925" "g.94509799G>A" "" "{PMID:Fadaie 2019:31397521}" "" "c.3050+370C>T" "" "Unknown" "" "" "0" "" "" "g.94044243G>A" "" "pathogenic (recessive)" ""
"0000769728" "0" "90" "1" "94495923" "94495923" "subst" "0" "01695" "ABCA4_001255" "g.94495923C>T" "" "{PMID:Fadaie 2019:31397521}" "" "c.4352+61G>A" "" "Unknown" "" "" "0" "" "" "g.94030367C>T" "" "pathogenic (recessive)" ""
"0000769729" "3" "90" "1" "94488942" "94488942" "subst" "0" "01695" "ABCA4_001254" "g.94488942C>T" "" "{PMID:Fadaie 2019:31397521}" "" "c.4667G>A" "" "Unknown" "" "" "0" "" "" "g.94023386C>T" "" "pathogenic (recessive)" ""
"0000769730" "0" "90" "1" "94486791" "94486791" "subst" "0" "01695" "ABCA4_001253" "g.94486791C>T" "" "{PMID:Fadaie 2019:31397521}" "" "c.5018+5G>A" "" "Unknown" "" "" "0" "" "" "g.94021235C>T" "" "pathogenic (recessive)" ""
"0000769731" "0" "90" "1" "94474432" "94474432" "subst" "0" "01695" "ABCA4_001252" "g.94474432A>C" "" "{PMID:Fadaie 2019:31397521}" "" "c.5715?5T>G" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008876A>C" "" "pathogenic (recessive)" ""
"0000769732" "0" "90" "1" "94470997" "94470997" "subst" "0" "01695" "ABCA4_001251" "g.94470997C>T" "" "{PMID:Fadaie 2019:31397521}" "" "c.6147G>A" "" "Unknown" "" "" "0" "" "" "g.94005441C>T" "" "pathogenic (recessive)" ""
"0000769733" "0" "70" "1" "94466559" "94466559" "subst" "0" "01695" "ABCA4_000833" "g.94466559T>C" "" "{PMID:Fadaie 2019:31397521}" "" "c.6385A>G" "" "Unknown" "" "" "0" "" "" "g.94001003T>C" "" "likely pathogenic (recessive)" ""
"0000769734" "0" "90" "1" "94474432" "94474432" "subst" "0" "01695" "ABCA4_001252" "g.94474432A>C" "" "{PMID:Fadaie 2019:31397521}" "" "c.5715?5T>G" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008876A>C" "" "pathogenic (recessive)" ""
"0000769735" "3" "90" "1" "94528128" "94528128" "subst" "0" "01695" "ABCA4_001258" "g.94528128C>T" "" "{PMID:Fadaie 2019:31397521}" "" "c.1937+5G>A" "" "Unknown" "" "" "0" "" "" "g.94062572C>T" "" "pathogenic (recessive)" ""
"0000769736" "3" "90" "1" "94463488" "94463488" "subst" "5.2803E-5" "01695" "ABCA4_000802" "g.94463488G>A" "" "{PMID:Holtan 2019:31429209}" "" "c.6658 C>T" "" "Unknown" "" "" "0" "" "" "g.93997932G>A" "" "pathogenic (recessive)" ""
"0000769737" "3" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Holtan 2019:31429209}" "" "c.5461-10T>C" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000769738" "3" "90" "1" "94463488" "94463488" "subst" "5.2803E-5" "01695" "ABCA4_000802" "g.94463488G>A" "" "{PMID:Holtan 2019:31429209}" "" "c.6658 C>T" "" "Unknown" "" "" "0" "" "" "g.93997932G>A" "" "pathogenic (recessive)" ""
"0000769739" "0" "70" "1" "94546126" "94546126" "subst" "2.03383E-5" "01695" "ABCA4_000343" "g.94546126G>C" "" "{PMID:Holtan 2019:31429209}" "" "c.1007C>G" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94080570G>C" "" "likely pathogenic (recessive)" ""
"0000769740" "0" "90" "1" "94543345" "94543345" "del" "0" "01695" "ABCA4_001350" "g.94543345del" "" "{PMID:Holtan 2019:31429209}" "" "c.1457del" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94077789del" "" "pathogenic (recessive)" ""
"0000769741" "0" "70" "1" "94577135" "94577135" "subst" "2.43718E-5" "01695" "ABCA4_000240" "g.94577135C>T" "" "{PMID:Holtan 2019:31429209}" "" "c.161 G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94111579C>T" "" "likely pathogenic (recessive)" ""
"0000769742" "0" "70" "1" "94577135" "94577135" "subst" "2.43718E-5" "01695" "ABCA4_000240" "g.94577135C>T" "" "{PMID:Holtan 2019:31429209}" "" "c.161 G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94111579C>T" "" "likely pathogenic (recessive)" ""
"0000769743" "0" "70" "1" "94528818" "94528818" "subst" "0.00205975" "01695" "ABCA4_001239" "g.94528818C>T" "" "{PMID:Holtan 2019:31429209}" "" "c.1610G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94063262C>T" "" "likely pathogenic (recessive)" ""
"0000769744" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Holtan 2019:31429209}" "" "c.1622 T>C" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000769745" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Holtan 2019:31429209}" "" "c.1622 T>C" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000769746" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Holtan 2019:31429209}" "" "c.1622 T>C" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000769747" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Holtan 2019:31429209}" "" "c.1622 T>C" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000769748" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Holtan 2019:31429209}" "" "c.1622 T>C" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000769749" "0" "50" "1" "94528774" "94528774" "subst" "0.00264827" "01695" "ABCA4_000298" "g.94528774C>T" "" "{PMID:Holtan 2019:31429209}" "" "c.1654 G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94063218C>T" "" "VUS" ""
"0000769750" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Holtan 2019:31429209}" "" "c.1804C>T" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94062710G>A" "" "pathogenic (recessive)" ""
"0000769751" "0" "70" "1" "94528263" "94528263" "subst" "0" "01695" "ABCA4_001348" "g.94528263A>G" "" "{PMID:Holtan 2019:31429209}" "" "c.1807T>C" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94062707A>G" "" "likely pathogenic (recessive)" ""
"0000769752" "0" "90" "1" "94528251" "94528251" "subst" "2.84824E-5" "01695" "ABCA4_000281" "g.94528251C>T" "" "{PMID:Holtan 2019:31429209}" "" "c.1819G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94062695C>T" "" "pathogenic (recessive)" ""
"0000769753" "0" "90" "1" "94528251" "94528251" "subst" "2.84824E-5" "01695" "ABCA4_000281" "g.94528251C>T" "" "{PMID:Holtan 2019:31429209}" "" "c.1819G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94062695C>T" "" "pathogenic (recessive)" ""
"0000769754" "0" "50" "1" "94528142" "94528142" "subst" "0.00153303" "01695" "ABCA4_000125" "g.94528142A>C" "" "{PMID:Holtan 2019:31429209}" "" "c.1928 T>G" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94062586A>C" "" "VUS" ""
"0000769755" "0" "90" "1" "94526212" "94526212" "subst" "1.22012E-5" "01695" "ABCA4_000075" "g.94526212G>A" "" "{PMID:Holtan 2019:31429209}" "" "c.2041 C>T" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94060656G>A" "" "pathogenic (recessive)" ""
"0000769756" "0" "90" "1" "94526212" "94526212" "subst" "1.22012E-5" "01695" "ABCA4_000075" "g.94526212G>A" "" "{PMID:Holtan 2019:31429209}" "" "c.2041 C>T" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94060656G>A" "" "pathogenic (recessive)" ""
"0000769757" "0" "90" "1" "94526212" "94526212" "subst" "1.22012E-5" "01695" "ABCA4_000075" "g.94526212G>A" "" "{PMID:Holtan 2019:31429209}" "" "c.2041 C>T" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94060656G>A" "" "pathogenic (recessive)" ""
"0000769758" "0" "90" "1" "94526212" "94526212" "subst" "1.22012E-5" "01695" "ABCA4_000075" "g.94526212G>A" "" "{PMID:Holtan 2019:31429209}" "" "c.2041 C>T" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94060656G>A" "" "pathogenic (recessive)" ""
"0000769759" "0" "90" "1" "94526212" "94526212" "subst" "1.22012E-5" "01695" "ABCA4_000075" "g.94526212G>A" "" "{PMID:Holtan 2019:31429209}" "" "c.2041 C>T" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94060656G>A" "" "pathogenic (recessive)" ""
"0000769760" "0" "90" "1" "94526212" "94526212" "subst" "1.22012E-5" "01695" "ABCA4_000075" "g.94526212G>A" "" "{PMID:Holtan 2019:31429209}" "" "c.2041 C>T" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94060656G>A" "" "pathogenic (recessive)" ""
"0000769761" "0" "90" "1" "94526212" "94526212" "subst" "1.22012E-5" "01695" "ABCA4_000075" "g.94526212G>A" "" "{PMID:Holtan 2019:31429209}" "" "c.2041 C>T" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94060656G>A" "" "pathogenic (recessive)" ""
"0000769762" "0" "90" "1" "94520690" "94520690" "subst" "2.03102E-5" "01695" "ABCA4_000149" "g.94520690C>T" "" "{PMID:Holtan 2019:31429209}" "" "c.2564G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94055134C>T" "" "pathogenic (recessive)" ""
"0000769763" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Holtan 2019:31429209}" "" "c.2588 G>C" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000769764" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Holtan 2019:31429209}" "" "c.2588 G>C" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000769765" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Holtan 2019:31429209}" "" "c.2588 G>C" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000769766" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Holtan 2019:31429209}" "" "c.2588 G>C" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000769767" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Holtan 2019:31429209}" "" "c.2588 G>C" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000769768" "0" "50" "1" "94514466" "94514466" "subst" "0.00192081" "01695" "ABCA4_000008" "g.94514466T>C" "" "{PMID:Holtan 2019:31429209}" "" "c.2701 A>G" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94048910T>C" "" "VUS" ""
"0000769769" "0" "70" "1" "94577010" "94577010" "subst" "1.22004E-5" "01695" "ABCA4_000224" "g.94577010T>C" "" "{PMID:Holtan 2019:31429209}" "" "c.286A>G" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94111454T>C" "" "likely pathogenic (recessive)" ""
"0000769770" "0" "70" "1" "94512478" "94512478" "subst" "3.65871E-5" "01695" "ABCA4_000678" "g.94512478G>T" "" "{PMID:Holtan 2019:31429209}" "" "c.2915C>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94046922G>T" "" "likely pathogenic (recessive)" ""
"0000769771" "0" "90" "1" "94510192" "94510192" "del" "0" "01695" "ABCA4_001346" "g.94510192del" "" "{PMID:Holtan 2019:31429209}" "" "c.3027del" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94044636del" "" "pathogenic (recessive)" ""
"0000769772" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Holtan 2019:31429209}" "" "c.3113 C>T" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000769773" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Holtan 2019:31429209}" "" "c.3113 C>T" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000769774" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Holtan 2019:31429209}" "" "c.3113 C>T" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000769775" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Holtan 2019:31429209}" "" "c.3113 C>T" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000769776" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Holtan 2019:31429209}" "" "c.3113 C>T" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000769777" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Holtan 2019:31429209}" "" "c.3113 C>T" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000769778" "0" "90" "1" "94508904" "94508904" "subst" "0" "01695" "ABCA4_001345" "g.94508904G>A" "" "{PMID:Holtan 2019:31429209}" "" "c.3178C>T" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94043348G>A" "" "pathogenic (recessive)" ""
"0000769779" "0" "90" "1" "94505684" "94505684" "subst" "1.73969E-5" "01695" "ABCA4_000102" "g.94505684C>T" "" "{PMID:Holtan 2019:31429209}" "" "c.3523-1G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94040128C>T" "" "pathogenic (recessive)" ""
"0000769780" "0" "90" "1" "94505684" "94505684" "subst" "1.73969E-5" "01695" "ABCA4_000102" "g.94505684C>T" "" "{PMID:Holtan 2019:31429209}" "" "c.3523-1G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94040128C>T" "" "pathogenic (recessive)" ""
"0000769781" "0" "70" "1" "94502832" "94502832" "subst" "0" "01695" "ABCA4_001341" "g.94502832C>T" "" "{PMID:Holtan 2019:31429209}" "" "c.3682G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94037276C>T" "" "likely pathogenic (recessive)" ""
"0000769782" "0" "90" "1" "94502295" "94502295" "subst" "0" "01695" "ABCA4_000589" "g.94502295C>T" "" "{PMID:Holtan 2019:31429209}" "" "c.3862+1G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94036739C>T" "" "pathogenic (recessive)" ""
"0000769783" "0" "10" "1" "94497563" "94497563" "subst" "0.00492504" "01695" "ABCA4_000090" "g.94497563C>T" "" "{PMID:Holtan 2019:31429209}" "" "c.3899 G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94032007C>T" "" "benign" ""
"0000769784" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Holtan 2019:31429209}" "" "c.4139C>T" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000769785" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Holtan 2019:31429209}" "" "c.4139C>T" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000769786" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Holtan 2019:31429209}" "" "c.4139C>T" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000769787" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Holtan 2019:31429209}" "" "c.4139C>T" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000769788" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Holtan 2019:31429209}" "" "c.4139C>T" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000769789" "0" "70" "1" "94496548" "94496548" "subst" "2.43787E-5" "01695" "ABCA4_000088" "g.94496548G>A" "" "{PMID:Holtan 2019:31429209}" "" "c.4253+4C>T" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94030992G>A" "" "likely pathogenic (recessive)" ""
"0000769790" "0" "70" "1" "94496548" "94496548" "subst" "2.43787E-5" "01695" "ABCA4_000088" "g.94496548G>A" "" "{PMID:Holtan 2019:31429209}" "" "c.4253+4C>T" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94030992G>A" "" "likely pathogenic (recessive)" ""
"0000769791" "0" "70" "1" "94495078" "94495078" "subst" "8.37044E-6" "01695" "ABCA4_000042" "g.94495078A>G" "" "{PMID:Holtan 2019:31429209}" "" "c.4462T>C" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94029522A>G" "" "likely pathogenic (recessive)" ""
"0000769792" "0" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "" "{PMID:Holtan 2019:31429209}" "" "c.4469G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94029515C>T" "" "likely pathogenic (recessive)" ""
"0000769793" "0" "90" "1" "94495009" "94495009" "del" "0" "01695" "ABCA4_000534" "g.94495009del" "" "{PMID:Holtan 2019:31429209}" "" "c.4537del" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94029453del" "" "pathogenic (recessive)" ""
"0000769794" "0" "90" "1" "94495009" "94495009" "del" "0" "01695" "ABCA4_000534" "g.94495009del" "" "{PMID:Holtan 2019:31429209}" "" "c.4537del" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94029453del" "" "pathogenic (recessive)" ""
"0000769795" "0" "90" "1" "94495009" "94495009" "dup" "0" "01695" "ABCA4_000087" "g.94495009dup" "" "{PMID:Holtan 2019:31429209}" "" "c.4537dup" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94029453dup" "" "pathogenic (recessive)" ""
"0000769796" "0" "90" "1" "94495009" "94495009" "dup" "0" "01695" "ABCA4_000087" "g.94495009dup" "" "{PMID:Holtan 2019:31429209}" "" "c.4537dup" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94029453dup" "" "pathogenic (recessive)" ""
"0000769797" "0" "90" "1" "94495009" "94495009" "dup" "0" "01695" "ABCA4_000087" "g.94495009dup" "" "{PMID:Holtan 2019:31429209}" "" "c.4537dup" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94029453dup" "" "pathogenic (recessive)" ""
"0000769798" "0" "90" "1" "94568687" "94568687" "subst" "1.62641E-5" "01695" "ABCA4_000024" "g.94568687G>A" "" "{PMID:Holtan 2019:31429209}" "" "c.454 C>T" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94103131G>A" "" "pathogenic (recessive)" ""
"0000769799" "0" "90" "1" "94488940" "94488940" "subst" "0" "01695" "ABCA4_000511" "g.94488940A>G" "" "{PMID:Holtan 2019:31429209}" "" "c.4667+2T>C" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94023384A>G" "" "pathogenic (recessive)" ""
"0000769800" "0" "50" "1" "94487490" "94487490" "subst" "0.00122268" "01695" "ABCA4_000506" "g.94487490A>G" "" "{PMID:Holtan 2019:31429209}" "" "c.4685T>C" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94021934A>G" "" "VUS" ""
"0000769801" "0" "50" "1" "94487490" "94487490" "subst" "0.00122268" "01695" "ABCA4_000506" "g.94487490A>G" "" "{PMID:Holtan 2019:31429209}" "" "c.4685T>C" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94021934A>G" "" "VUS" ""
"0000769802" "0" "90" "1" "94487401" "94487401" "subst" "4.06085E-6" "01695" "ABCA4_000995" "g.94487401C>T" "" "{PMID:Holtan 2019:31429209}" "" "c.4773+1 G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94021845C>T" "" "pathogenic (recessive)" ""
"0000769803" "0" "70" "1" "94487399" "94487399" "subst" "7.30959E-5" "01695" "ABCA4_000038" "g.94487399T>C" "" "{PMID:Holtan 2019:31429209}" "" "c.4773+3A>G" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94021843T>C" "" "likely pathogenic (recessive)" ""
"0000769804" "0" "70" "1" "94486895" "94486895" "subst" "3.24923E-5" "01695" "ABCA4_000484" "g.94486895C>T" "" "{PMID:Holtan 2019:31429209}" "" "c.4919G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94021339C>T" "" "likely pathogenic (recessive)" ""
"0000769805" "0" "70" "1" "94486895" "94486895" "subst" "3.24923E-5" "01695" "ABCA4_000484" "g.94486895C>T" "" "{PMID:Holtan 2019:31429209}" "" "c.4919G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94021339C>T" "" "likely pathogenic (recessive)" ""
"0000769806" "0" "90" "1" "94485137" "94485137" "subst" "0" "01695" "ABCA4_000464" "g.94485137C>T" "" "{PMID:Holtan 2019:31429209}" "" "c.5196+1G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94019581C>T" "" "pathogenic (recessive)" ""
"0000769807" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Holtan 2019:31429209}" "" "c.5461-10T>C" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000769808" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Holtan 2019:31429209}" "" "c.5461-10T>C" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000769809" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Holtan 2019:31429209}" "" "c.5461-10T>C" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000769810" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Holtan 2019:31429209}" "" "c.5461-10T>C" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000769811" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Holtan 2019:31429209}" "" "c.5461-10T>C" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000769812" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Holtan 2019:31429209}" "" "c.5461-10T>C" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000769813" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Holtan 2019:31429209}" "" "c.5461-10T>C" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000769814" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Holtan 2019:31429209}" "" "c.5461-10T>C" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000769815" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Holtan 2019:31429209}" "" "c.5461-10T>C" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000769816" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Holtan 2019:31429209}" "" "c.5461-10T>C" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000769817" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Holtan 2019:31429209}" "" "c.5461-10T>C" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000769818" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Holtan 2019:31429209}" "" "c.5461-10T>C" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000769819" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Holtan 2019:31429209}" "" "c.5461-10T>C" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000769820" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Holtan 2019:31429209}" "" "c.5603A>T" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000769821" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Holtan 2019:31429209}" "" "c.5603A>T" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000769822" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Holtan 2019:31429209}" "" "c.5603A>T" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000769823" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Holtan 2019:31429209}" "" "c.5603A>T" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000769824" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Holtan 2019:31429209}" "" "c.5603A>T" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000769825" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Holtan 2019:31429209}" "" "c.5603A>T" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000769826" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Holtan 2019:31429209}" "" "c.5603A>T" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000769827" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Holtan 2019:31429209}" "" "c.5603A>T" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000769828" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Holtan 2019:31429209}" "" "c.5603A>T" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000769829" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Holtan 2019:31429209}" "" "c.5714+5G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000769830" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Holtan 2019:31429209}" "" "c.5882G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000769831" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Holtan 2019:31429209}" "" "c.5882G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000769832" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Holtan 2019:31429209}" "" "c.5882G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000769833" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Holtan 2019:31429209}" "" "c.5882G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000769834" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Holtan 2019:31429209}" "" "c.5882G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000769835" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Holtan 2019:31429209}" "" "c.5882G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000769836" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Holtan 2019:31429209}" "" "c.5882G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000769837" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Holtan 2019:31429209}" "" "c.5882G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000769838" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Holtan 2019:31429209}" "" "c.5882G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000769839" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Holtan 2019:31429209}" "" "c.5882G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000769840" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Holtan 2019:31429209}" "" "c.5882G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000769841" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Holtan 2019:31429209}" "" "c.5882G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000769842" "0" "70" "1" "94473266" "94473266" "subst" "8.14677E-6" "01695" "ABCA4_000389" "g.94473266C>T" "" "{PMID:Holtan 2019:31429209}" "" "c.5929G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94007710C>T" "" "likely pathogenic (recessive)" ""
"0000769843" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Holtan 2019:31429209}" "" "c.6079C>T" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic (recessive)" ""
"0000769844" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Holtan 2019:31429209}" "" "c.6079C>T" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic (recessive)" ""
"0000769845" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Holtan 2019:31429209}" "" "c.6079C>T" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic (recessive)" ""
"0000769846" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Holtan 2019:31429209}" "" "c.6079C>T" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic (recessive)" ""
"0000769847" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Holtan 2019:31429209}" "" "c.6079C>T" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic (recessive)" ""
"0000769848" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Holtan 2019:31429209}" "" "c.6079C>T" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic (recessive)" ""
"0000769849" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Holtan 2019:31429209}" "" "c.6079C>T" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic (recessive)" ""
"0000769850" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Holtan 2019:31429209}" "" "c.6079C>T" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic (recessive)" ""
"0000769851" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Holtan 2019:31429209}" "" "c.6079C>T" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic (recessive)" ""
"0000769852" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Holtan 2019:31429209}" "" "c.6079C>T" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic (recessive)" ""
"0000769853" "0" "50" "1" "94467548" "94467548" "subst" "0.00295661" "01695" "ABCA4_000788" "g.94467548C>G" "" "{PMID:Holtan 2019:31429209}" "" "c.6148G>C" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94001992C>G" "" "VUS" ""
"0000769854" "0" "70" "1" "94467467" "94467467" "subst" "4.06164E-6" "01695" "ABCA4_000780" "g.94467467G>A" "" "{PMID:Holtan 2019:31429209}" "" "c.6229 C>T" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94001911G>A" "" "likely pathogenic (recessive)" ""
"0000769855" "0" "70" "1" "94467467" "94467467" "subst" "4.06164E-6" "01695" "ABCA4_000780" "g.94467467G>A" "" "{PMID:Holtan 2019:31429209}" "" "c.6229 C>T" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94001911G>A" "" "likely pathogenic (recessive)" ""
"0000769856" "0" "90" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Holtan 2019:31429209}" "" "c.634C>T" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94098928G>A" "" "pathogenic (recessive)" ""
"0000769857" "0" "70" "1" "94466422" "94466422" "subst" "2.43651E-5" "01695" "ABCA4_000817" "g.94466422C>T" "" "{PMID:Holtan 2019:31429209}" "" "c.6449 G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94000866C>T" "" "likely pathogenic (recessive)" ""
"0000769858" "0" "70" "1" "94578618" "94578618" "subst" "0.000166918" "01695" "ABCA4_000252" "g.94578618C>T" "" "{PMID:Holtan 2019:31429209}" "" "c.71 G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94113062C>T" "" "likely pathogenic (recessive)" ""
"0000769859" "0" "70" "1" "94578618" "94578618" "subst" "0.000166918" "01695" "ABCA4_000252" "g.94578618C>T" "" "{PMID:Holtan 2019:31429209}" "" "c.71 G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94113062C>T" "" "likely pathogenic (recessive)" ""
"0000769860" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Holtan 2019:31429209}" "" "c.768G>T" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000769861" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Holtan 2019:31429209}" "" "c.768G>T" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000769862" "1" "50" "1" "94543389" "94543389" "subst" "0.000861235" "01695" "ABCA4_000312" "g.94543389C>T" "" "{PMID:Sharon 2019:31456290}" "" "c.[1411G>A;5693G>A]" "" "Unknown" "" "" "0" "" "" "g.94077833C>T" "" "VUS" ""
"0000769863" "0" "70" "1" "94543269" "94543269" "subst" "0.000179087" "01695" "ABCA4_000307" "g.94543269G>A" "" "{PMID:Sharon 2019:31456290}" "" "c.[1531C>T; 872C>T]" "" "Unknown" "" "" "0" "" "" "g.94077713G>A" "" "likely pathogenic (recessive)" ""
"0000769864" "0" "90" "1" "94586601" "94586601" "subst" "8.12156E-6" "01695" "ABCA4_000264" "g.94586601T>C" "" "{PMID:Sharon 2019:31456290}" "" "c.[1A>G;6089G>A]" "" "Unknown" "" "" "0" "" "" "g.94121045T>C" "" "pathogenic (recessive)" ""
"0000769865" "0" "90" "1" "94544947" "94544947" "del" "0" "01695" "ABCA4_001021" "g.94544947del" "" "{PMID:Sharon 2019:31456290}" "" "c.1172del" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94079391del" "" "pathogenic (recessive)" ""
"0000769866" "0" "90" "1" "94544947" "94544947" "del" "0" "01695" "ABCA4_001021" "g.94544947del" "" "{PMID:Sharon 2019:31456290}" "" "c.1172del" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94079391del" "" "pathogenic (recessive)" ""
"0000769867" "0" "90" "1" "94544947" "94544947" "del" "0" "01695" "ABCA4_001021" "g.94544947del" "" "{PMID:Sharon 2019:31456290}" "" "c.1172del" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94079391del" "" "pathogenic (recessive)" ""
"0000769868" "0" "90" "1" "94544947" "94544947" "del" "0" "01695" "ABCA4_001021" "g.94544947del" "" "{PMID:Sharon 2019:31456290}" "" "c.1172del" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94079391del" "" "pathogenic (recessive)" ""
"0000769869" "0" "50" "1" "94543389" "94543389" "subst" "0.000861235" "01695" "ABCA4_000312" "g.94543389C>T" "" "{PMID:Sharon 2019:31456290}" "" "c.1411G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94077833C>T" "" "VUS" ""
"0000769870" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Sharon 2019:31456290}" "" "c.1622T>C" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000769871" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Sharon 2019:31456290}" "" "c.1622T>C" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000769872" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Sharon 2019:31456290}" "" "c.1622T>C" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000769873" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Sharon 2019:31456290}" "" "c.1622T>C" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000769874" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Sharon 2019:31456290}" "" "c.1622T>C" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000769875" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Sharon 2019:31456290}" "" "c.1622T>C" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000769876" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Sharon 2019:31456290}" "" "c.1622T>C" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000769877" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Sharon 2019:31456290}" "" "c.1622T>C" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000769878" "0" "90" "1" "94528714" "94528714" "subst" "0" "01695" "ABCA4_000296" "g.94528714G>A" "" "{PMID:Sharon 2019:31456290}" "" "c.1714C>T" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94063158G>A" "" "pathogenic (recessive)" ""
"0000769879" "0" "70" "1" "94528670" "94528670" "subst" "0" "01695" "ABCA4_001349" "g.94528670G>T" "" "{PMID:Sharon 2019:31456290}" "" "c.1758C>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94063114G>T" "" "likely pathogenic (recessive)" ""
"0000769880" "0" "50" "1" "94528224" "94528224" "subst" "0" "01695" "ABCA4_000275" "g.94528224C>T" "" "{PMID:Sharon 2019:31456290}" "" "c.1846G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94062668C>T" "" "VUS" ""
"0000769881" "0" "70" "1" "94526295" "94526295" "subst" "0" "01695" "ABCA4_001347" "g.94526295C>A" "" "{PMID:Sharon 2019:31456290}" "" "c.1958G>T" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94060739C>A" "" "likely pathogenic (recessive)" ""
"0000769882" "0" "70" "1" "94522245" "94522245" "subst" "0" "01695" "ABCA4_000740" "g.94522245C>T" "" "{PMID:Sharon 2019:31456290}" "" "c.2294G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94056689C>T" "" "likely pathogenic (recessive)" ""
"0000769883" "0" "70" "1" "94577054" "94577054" "subst" "0" "01695" "ABCA4_001353" "g.94577054C>G" "" "{PMID:Sharon 2019:31456290}" "" "c.242G>C" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94111498C>G" "" "likely pathogenic (recessive)" ""
"0000769884" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Sharon 2019:31456290}" "" "c.2588G>C" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000769885" "0" "50" "1" "94512602" "94512602" "subst" "0.000369717" "01695" "ABCA4_000052" "g.94512602C>T" "" "{PMID:Sharon 2019:31456290}" "" "c.2791G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94047046C>T" "" "VUS" ""
"0000769886" "0" "50" "1" "94512602" "94512602" "subst" "0.000369717" "01695" "ABCA4_000052" "g.94512602C>T" "" "{PMID:Sharon 2019:31456290}" "" "c.2791G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94047046C>T" "" "VUS" ""
"0000769887" "0" "50" "1" "94512602" "94512602" "subst" "0.000369717" "01695" "ABCA4_000052" "g.94512602C>T" "" "{PMID:Sharon 2019:31456290}" "" "c.2791G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94047046C>T" "" "VUS" ""
"0000769888" "0" "10" "1" "94512565" "94512565" "subst" "0.030364" "01695" "ABCA4_000002" "g.94512565C>T" "" "{PMID:Sharon 2019:31456290}" "" "c.2828G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94047009C>T" "" "benign" ""
"0000769889" "0" "90" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Sharon 2019:31456290}" "" "c.2894A>G" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94046943T>C" "" "pathogenic (recessive)" ""
"0000769890" "0" "90" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Sharon 2019:31456290}" "" "c.2894A>G" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94046943T>C" "" "pathogenic (recessive)" ""
"0000769891" "0" "90" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Sharon 2019:31456290}" "" "c.2894A>G" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94046943T>C" "" "pathogenic (recessive)" ""
"0000769892" "0" "70" "1" "94510164" "94510164" "subst" "1.62441E-5" "01695" "ABCA4_000144" "g.94510164C>T" "" "{PMID:Sharon 2019:31456290}" "" "c.3050+5G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94044608C>T" "" "likely pathogenic (recessive)" ""
"0000769893" "0" "70" "1" "94510164" "94510164" "subst" "1.62441E-5" "01695" "ABCA4_000144" "g.94510164C>T" "" "{PMID:Sharon 2019:31456290}" "" "c.3050+5G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94044608C>T" "" "likely pathogenic (recessive)" ""
"0000769894" "0" "70" "1" "94510164" "94510164" "subst" "1.62441E-5" "01695" "ABCA4_000144" "g.94510164C>T" "" "{PMID:Sharon 2019:31456290}" "" "c.3050+5G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94044608C>T" "" "likely pathogenic (recessive)" ""
"0000769895" "0" "70" "1" "94510164" "94510164" "subst" "1.62441E-5" "01695" "ABCA4_000144" "g.94510164C>T" "" "{PMID:Sharon 2019:31456290}" "" "c.3050+5G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94044608C>T" "" "likely pathogenic (recessive)" ""
"0000769896" "0" "70" "1" "94510164" "94510164" "subst" "1.62441E-5" "01695" "ABCA4_000144" "g.94510164C>T" "" "{PMID:Sharon 2019:31456290}" "" "c.3050+5G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94044608C>T" "" "likely pathogenic (recessive)" ""
"0000769897" "0" "70" "1" "94510164" "94510164" "subst" "1.62441E-5" "01695" "ABCA4_000144" "g.94510164C>T" "" "{PMID:Sharon 2019:31456290}" "" "c.3050+5G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94044608C>T" "" "likely pathogenic (recessive)" ""
"0000769898" "0" "70" "1" "94510164" "94510164" "subst" "1.62441E-5" "01695" "ABCA4_000144" "g.94510164C>T" "" "{PMID:Sharon 2019:31456290}" "" "c.3050+5G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94044608C>T" "" "likely pathogenic (recessive)" ""
"0000769899" "0" "70" "1" "94510164" "94510164" "subst" "1.62441E-5" "01695" "ABCA4_000144" "g.94510164C>T" "" "{PMID:Sharon 2019:31456290}" "" "c.3050+5G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94044608C>T" "" "likely pathogenic (recessive)" ""
"0000769900" "0" "70" "1" "94510164" "94510164" "subst" "1.62441E-5" "01695" "ABCA4_000144" "g.94510164C>T" "" "{PMID:Sharon 2019:31456290}" "" "c.3050+5G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94044608C>T" "" "likely pathogenic (recessive)" ""
"0000769901" "0" "90" "1" "94509026" "94509026" "subst" "4.06497E-5" "01695" "ABCA4_000660" "g.94509026G>A" "" "{PMID:Sharon 2019:31456290}" "" "c.3056C>T" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94043470G>A" "" "pathogenic (recessive)" ""
"0000769902" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Sharon 2019:31456290}" "" "c.3113C>T" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000769903" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Sharon 2019:31456290}" "" "c.3322C>T" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000769904" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Sharon 2019:31456290}" "" "c.3322C>T" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000769905" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Sharon 2019:31456290}" "" "c.3322C>T" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000769906" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Sharon 2019:31456290}" "" "c.3322C>T" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000769907" "0" "50" "1" "94506838" "94506840" "del" "0" "01695" "ABCA4_000615" "g.94506838_94506840del" "" "{PMID:Sharon 2019:31456290}" "" "c.3449_3451del" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94041282_94041284del" "" "VUS" ""
"0000769908" "0" "70" "1" "94506805" "94506805" "subst" "2.03051E-5" "01695" "ABCA4_001294" "g.94506805C>T" "" "{PMID:Sharon 2019:31456290}" "" "c.3482G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94041249C>T" "" "likely pathogenic (recessive)" ""
"0000769909" "0" "70" "1" "94502906" "94502906" "subst" "0.000314086" "01695" "ABCA4_000605" "g.94502906C>T" "" "{PMID:Sharon 2019:31456290}" "" "c.3608G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94037350C>T" "" "likely pathogenic (recessive)" ""
"0000769910" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Sharon 2019:31456290}" "" "c.4139C>T" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000769911" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Sharon 2019:31456290}" "" "c.4139C>T" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000769912" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Sharon 2019:31456290}" "" "c.4139C>T" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000769913" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Sharon 2019:31456290}" "" "c.4139C>T" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000769914" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Sharon 2019:31456290}" "" "c.4139C>T" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000769915" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Sharon 2019:31456290}" "" "c.4139C>T" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000769916" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Sharon 2019:31456290}" "" "c.4139C>T" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000769917" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Sharon 2019:31456290}" "" "c.4139C>T" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000769918" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Sharon 2019:31456290}" "" "c.4139C>T" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000769919" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Sharon 2019:31456290}" "" "c.4139C>T" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000769920" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Sharon 2019:31456290}" "" "c.4139C>T" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000769921" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Sharon 2019:31456290}" "" "c.4139C>T" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000769922" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Sharon 2019:31456290}" "" "c.4139C>T" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000769923" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Sharon 2019:31456290}" "" "c.4139C>T" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000769924" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Sharon 2019:31456290}" "" "c.4139C>T" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000769925" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Sharon 2019:31456290}" "" "c.4139C>T" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000769926" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Sharon 2019:31456290}" "" "c.4139C>T" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000769927" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Sharon 2019:31456290}" "" "c.4139C>T" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000769928" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Sharon 2019:31456290}" "" "c.4139C>T" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000769929" "0" "50" "1" "94496078" "94496100" "del" "0" "01695" "ABCA4_001833" "g.94496078_94496100del" "" "{PMID:Sharon 2019:31456290}" "" "c.4254-15del23" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94030522_94030544del" "" "VUS" ""
"0000769930" "0" "50" "1" "94496078" "94496100" "del" "0" "01695" "ABCA4_001833" "g.94496078_94496100del" "" "{PMID:Sharon 2019:31456290}" "" "c.4254-15del23" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94030522_94030544del" "" "VUS" ""
"0000769931" "0" "50" "1" "94496078" "94496100" "del" "0" "01695" "ABCA4_001833" "g.94496078_94496100del" "" "{PMID:Sharon 2019:31456290}" "" "c.4254-15del23" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94030522_94030544del" "" "VUS" ""
"0000769932" "0" "50" "1" "94496078" "94496100" "del" "0" "01695" "ABCA4_001833" "g.94496078_94496100del" "" "{PMID:Sharon 2019:31456290}" "" "c.4254-15del23" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94030522_94030544del" "" "VUS" ""
"0000769933" "0" "50" "1" "94496078" "94496100" "del" "0" "01695" "ABCA4_001833" "g.94496078_94496100del" "" "{PMID:Sharon 2019:31456290}" "" "c.4254-15del23" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94030522_94030544del" "" "VUS" ""
"0000769934" "0" "50" "1" "94496078" "94496100" "del" "0" "01695" "ABCA4_001833" "g.94496078_94496100del" "" "{PMID:Sharon 2019:31456290}" "" "c.4254-15del23" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94030522_94030544del" "" "VUS" ""
"0000769935" "0" "50" "1" "94496078" "94496100" "del" "0" "01695" "ABCA4_001833" "g.94496078_94496100del" "" "{PMID:Sharon 2019:31456290}" "" "c.4254-15del23" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94030522_94030544del" "" "VUS" ""
"0000769936" "0" "50" "1" "94496078" "94496100" "del" "0" "01695" "ABCA4_001833" "g.94496078_94496100del" "" "{PMID:Sharon 2019:31456290}" "" "c.4254-15del23" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94030522_94030544del" "" "VUS" ""
"0000769937" "0" "50" "1" "94496078" "94496100" "del" "0" "01695" "ABCA4_001833" "g.94496078_94496100del" "" "{PMID:Sharon 2019:31456290}" "" "c.4254-15del23" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94030522_94030544del" "" "VUS" ""
"0000769938" "0" "90" "1" "94496083" "94496083" "subst" "0" "01695" "ABCA4_001340" "g.94496083C>T" "" "{PMID:Sharon 2019:31456290}" "" "c.4254-1G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94030527C>T" "" "pathogenic (recessive)" ""
"0000769939" "0" "90" "1" "94496083" "94496083" "subst" "0" "01695" "ABCA4_001340" "g.94496083C>T" "" "{PMID:Sharon 2019:31456290}" "" "c.4254-1G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94030527C>T" "" "pathogenic (recessive)" ""
"0000769940" "0" "70" "1" "94495083" "94495083" "subst" "0.000124542" "01695" "ABCA4_000542" "g.94495083G>A" "" "{PMID:Sharon 2019:31456290}" "" "c.4457C>T" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94029527G>A" "" "likely pathogenic (recessive)" ""
"0000769941" "0" "70" "1" "94495083" "94495083" "subst" "0.000124542" "01695" "ABCA4_000542" "g.94495083G>A" "" "{PMID:Sharon 2019:31456290}" "" "c.4457C>T" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94029527G>A" "" "likely pathogenic (recessive)" ""
"0000769942" "0" "70" "1" "94495083" "94495083" "subst" "0.000124542" "01695" "ABCA4_000542" "g.94495083G>A" "" "{PMID:Sharon 2019:31456290}" "" "c.4457C>T" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94029527G>A" "" "likely pathogenic (recessive)" ""
"0000769943" "0" "70" "1" "94495083" "94495083" "subst" "0.000124542" "01695" "ABCA4_000542" "g.94495083G>A" "" "{PMID:Sharon 2019:31456290}" "" "c.4457C>T" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94029527G>A" "" "likely pathogenic (recessive)" ""
"0000769944" "0" "70" "1" "94568689" "94568689" "subst" "0" "01695" "ABCA4_001023" "g.94568689A>G" "" "{PMID:Sharon 2019:31456290}" "" "c.452T>C" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94103133A>G" "" "likely pathogenic (recessive)" ""
"0000769945" "0" "90" "1" "94495009" "94495009" "dup" "0" "01695" "ABCA4_000087" "g.94495009dup" "" "{PMID:Sharon 2019:31456290}" "" "c.4537dup" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94029453dup" "" "pathogenic (recessive)" ""
"0000769946" "0" "90" "1" "94495009" "94495009" "dup" "0" "01695" "ABCA4_000087" "g.94495009dup" "" "{PMID:Sharon 2019:31456290}" "" "c.4537dup" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94029453dup" "" "pathogenic (recessive)" ""
"0000769947" "0" "90" "1" "94495009" "94495009" "dup" "0" "01695" "ABCA4_000087" "g.94495009dup" "" "{PMID:Sharon 2019:31456290}" "" "c.4537dup" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94029453dup" "" "pathogenic (recessive)" ""
"0000769948" "0" "90" "1" "94495009" "94495009" "dup" "0" "01695" "ABCA4_000087" "g.94495009dup" "" "{PMID:Sharon 2019:31456290}" "" "c.4537dup" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94029453dup" "" "pathogenic (recessive)" ""
"0000769949" "0" "50" "1" "94568686" "94568686" "subst" "0.00258122" "01695" "ABCA4_000212" "g.94568686C>T" "" "{PMID:Sharon 2019:31456290}" "" "c.455G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94103130C>T" "" "VUS" ""
"0000769950" "0" "70" "1" "94490567" "94490567" "subst" "5.68528E-5" "01695" "ABCA4_000026" "g.94490567G>A" "" "{PMID:Sharon 2019:31456290}" "" "c.4577C>T" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94025011G>A" "" "likely pathogenic (recessive)" ""
"0000769951" "0" "70" "1" "94490567" "94490567" "subst" "5.68528E-5" "01695" "ABCA4_000026" "g.94490567G>A" "" "{PMID:Sharon 2019:31456290}" "" "c.4577C>T" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94025011G>A" "" "likely pathogenic (recessive)" ""
"0000769952" "0" "70" "1" "94490550" "94490550" "subst" "0.000105588" "01695" "ABCA4_000523" "g.94490550C>T" "" "{PMID:Sharon 2019:31456290}" "" "c.4594G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94024994C>T" "" "likely pathogenic (recessive)" ""
"0000769953" "0" "70" "1" "94487251" "94487251" "subst" "2.85679E-5" "01695" "ABCA4_000490" "g.94487251G>T" "" "{PMID:Sharon 2019:31456290}" "" "c.4793C>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94021695G>T" "" "likely pathogenic (recessive)" ""
"0000769954" "0" "70" "1" "94487251" "94487251" "subst" "2.85679E-5" "01695" "ABCA4_000490" "g.94487251G>T" "" "{PMID:Sharon 2019:31456290}" "" "c.4793C>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94021695G>T" "" "likely pathogenic (recessive)" ""
"0000769955" "0" "70" "1" "94487251" "94487251" "subst" "2.85679E-5" "01695" "ABCA4_000490" "g.94487251G>T" "" "{PMID:Sharon 2019:31456290}" "" "c.4793C>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94021695G>T" "" "likely pathogenic (recessive)" ""
"0000769956" "0" "70" "1" "94486960" "94486960" "subst" "1.62641E-5" "01695" "ABCA4_001169" "g.94486960C>G" "" "{PMID:Sharon 2019:31456290}" "" "c.4854G>C" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94021404C>G" "" "likely pathogenic (recessive)" ""
"0000769957" "0" "90" "1" "94486920" "94486920" "dup" "0" "01695" "ABCA4_001019" "g.94486920dup" "" "{PMID:Sharon 2019:31456290}" "" "c.4895dup" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94021364dup" "" "pathogenic (recessive)" ""
"0000769958" "0" "70" "1" "94486896" "94486896" "subst" "3.65562E-5" "01695" "ABCA4_000085" "g.94486896G>A" "" "{PMID:Sharon 2019:31456290}" "" "c.4918C>T" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94021340G>A" "" "likely pathogenic (recessive)" ""
"0000769959" "0" "70" "1" "94486896" "94486896" "subst" "3.65562E-5" "01695" "ABCA4_000085" "g.94486896G>A" "" "{PMID:Sharon 2019:31456290}" "" "c.4918C>T" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94021340G>A" "" "likely pathogenic (recessive)" ""
"0000769960" "0" "70" "1" "94486895" "94486895" "subst" "3.24923E-5" "01695" "ABCA4_000484" "g.94486895C>T" "" "{PMID:Sharon 2019:31456290}" "" "c.4919G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94021339C>T" "" "likely pathogenic (recessive)" ""
"0000769961" "0" "70" "1" "94486895" "94486895" "subst" "3.24923E-5" "01695" "ABCA4_000484" "g.94486895C>T" "" "{PMID:Sharon 2019:31456290}" "" "c.4919G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94021339C>T" "" "likely pathogenic (recessive)" ""
"0000769962" "0" "70" "1" "94486895" "94486895" "subst" "3.24923E-5" "01695" "ABCA4_000484" "g.94486895C>T" "" "{PMID:Sharon 2019:31456290}" "" "c.4919G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94021339C>T" "" "likely pathogenic (recessive)" ""
"0000769963" "0" "70" "1" "94486895" "94486895" "subst" "3.24923E-5" "01695" "ABCA4_000484" "g.94486895C>T" "" "{PMID:Sharon 2019:31456290}" "" "c.4919G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94021339C>T" "" "likely pathogenic (recessive)" ""
"0000769964" "0" "70" "1" "94486895" "94486895" "subst" "3.24923E-5" "01695" "ABCA4_000484" "g.94486895C>T" "" "{PMID:Sharon 2019:31456290}" "" "c.4919G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94021339C>T" "" "likely pathogenic (recessive)" ""
"0000769965" "0" "70" "1" "94486895" "94486895" "subst" "3.24923E-5" "01695" "ABCA4_000484" "g.94486895C>T" "" "{PMID:Sharon 2019:31456290}" "" "c.4919G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94021339C>T" "" "likely pathogenic (recessive)" ""
"0000769966" "0" "70" "1" "94486895" "94486895" "subst" "3.24923E-5" "01695" "ABCA4_000484" "g.94486895C>T" "" "{PMID:Sharon 2019:31456290}" "" "c.4919G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94021339C>T" "" "likely pathogenic (recessive)" ""
"0000769967" "0" "70" "1" "94486835" "94486835" "subst" "0" "01695" "ABCA4_001018" "g.94486835G>A" "" "{PMID:Sharon 2019:31456290}" "" "c.4979C>T" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94021279G>A" "" "likely pathogenic (recessive)" ""
"0000769968" "0" "70" "1" "94486835" "94486835" "subst" "0" "01695" "ABCA4_001018" "g.94486835G>A" "" "{PMID:Sharon 2019:31456290}" "" "c.4979C>T" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94021279G>A" "" "likely pathogenic (recessive)" ""
"0000769969" "0" "70" "1" "94486835" "94486835" "subst" "0" "01695" "ABCA4_001018" "g.94486835G>A" "" "{PMID:Sharon 2019:31456290}" "" "c.4979C>T" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94021279G>A" "" "likely pathogenic (recessive)" ""
"0000769970" "0" "70" "1" "94486835" "94486835" "subst" "0" "01695" "ABCA4_001018" "g.94486835G>A" "" "{PMID:Sharon 2019:31456290}" "" "c.4979C>T" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94021279G>A" "" "likely pathogenic (recessive)" ""
"0000769971" "0" "70" "1" "94486835" "94486835" "subst" "0" "01695" "ABCA4_001018" "g.94486835G>A" "" "{PMID:Sharon 2019:31456290}" "" "c.4979C>T" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94021279G>A" "" "likely pathogenic (recessive)" ""
"0000769972" "0" "70" "1" "94486835" "94486835" "subst" "0" "01695" "ABCA4_001018" "g.94486835G>A" "" "{PMID:Sharon 2019:31456290}" "" "c.4979C>T" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94021279G>A" "" "likely pathogenic (recessive)" ""
"0000769973" "0" "70" "1" "94486835" "94486835" "subst" "0" "01695" "ABCA4_001018" "g.94486835G>A" "" "{PMID:Sharon 2019:31456290}" "" "c.4979C>T" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94021279G>A" "" "likely pathogenic (recessive)" ""
"0000769974" "0" "90" "1" "94485275" "94485275" "del" "0" "01695" "ABCA4_001017" "g.94485275del" "" "{PMID:Sharon 2019:31456290}" "" "c.5059del" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94019719del" "" "pathogenic (recessive)" ""
"0000769975" "0" "90" "1" "94485275" "94485275" "del" "0" "01695" "ABCA4_001017" "g.94485275del" "" "{PMID:Sharon 2019:31456290}" "" "c.5059del" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94019719del" "" "pathogenic (recessive)" ""
"0000769976" "0" "90" "1" "94485275" "94485275" "del" "0" "01695" "ABCA4_001017" "g.94485275del" "" "{PMID:Sharon 2019:31456290}" "" "c.5059del" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94019719del" "" "pathogenic (recessive)" ""
"0000769977" "0" "90" "1" "94485275" "94485275" "del" "0" "01695" "ABCA4_001017" "g.94485275del" "" "{PMID:Sharon 2019:31456290}" "" "c.5059del" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94019719del" "" "pathogenic (recessive)" ""
"0000769978" "0" "90" "1" "94485275" "94485275" "del" "0" "01695" "ABCA4_001017" "g.94485275del" "" "{PMID:Sharon 2019:31456290}" "" "c.5059del" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94019719del" "" "pathogenic (recessive)" ""
"0000769979" "0" "90" "1" "94485275" "94485275" "del" "0" "01695" "ABCA4_001017" "g.94485275del" "" "{PMID:Sharon 2019:31456290}" "" "c.5059del" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94019719del" "" "pathogenic (recessive)" ""
"0000769980" "0" "90" "1" "94485275" "94485275" "del" "0" "01695" "ABCA4_001017" "g.94485275del" "" "{PMID:Sharon 2019:31456290}" "" "c.5059del" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94019719del" "" "pathogenic (recessive)" ""
"0000769981" "0" "90" "1" "94485165" "94485165" "subst" "0" "01695" "ABCA4_001016" "g.94485165G>C" "" "{PMID:Sharon 2019:31456290}" "" "c.5169C>G" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94019609G>C" "" "pathogenic (recessive)" ""
"0000769982" "0" "90" "1" "94485165" "94485165" "subst" "0" "01695" "ABCA4_001016" "g.94485165G>C" "" "{PMID:Sharon 2019:31456290}" "" "c.5169C>G" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94019609G>C" "" "pathogenic (recessive)" ""
"0000769983" "0" "90" "1" "94485145" "94485145" "subst" "0" "01695" "ABCA4_001015" "g.94485145C>T" "" "{PMID:Sharon 2019:31456290}" "" "c.5189G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94019589C>T" "" "pathogenic (recessive)" ""
"0000769984" "0" "90" "1" "94485137" "94485137" "subst" "0" "01695" "ABCA4_000464" "g.94485137C>T" "" "{PMID:Sharon 2019:31456290}" "" "c.5196+1G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94019581C>T" "" "pathogenic (recessive)" ""
"0000769985" "0" "90" "1" "94481294" "94481294" "subst" "0" "01695" "ABCA4_000110" "g.94481294C>T" "" "{PMID:Sharon 2019:31456290}" "" "c.5312+1G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94015738C>T" "" "pathogenic (recessive)" ""
"0000769986" "0" "70" "1" "94480241" "94480241" "subst" "7.71705E-5" "01695" "ABCA4_000446" "g.94480241G>A" "" "{PMID:Sharon 2019:31456290}" "" "c.5318C>T" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94014685G>A" "" "likely pathogenic (recessive)" ""
"0000769987" "0" "70" "1" "94480241" "94480241" "subst" "7.71705E-5" "01695" "ABCA4_000446" "g.94480241G>A" "" "{PMID:Sharon 2019:31456290}" "" "c.5318C>T" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94014685G>A" "" "likely pathogenic (recessive)" ""
"0000769988" "0" "70" "1" "94480241" "94480241" "subst" "7.71705E-5" "01695" "ABCA4_000446" "g.94480241G>A" "" "{PMID:Sharon 2019:31456290}" "" "c.5318C>T" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94014685G>A" "" "likely pathogenic (recessive)" ""
"0000769989" "0" "90" "1" "94480224" "94480227" "del" "0" "01695" "ABCA4_001014" "g.94480224_94480227del" "" "{PMID:Sharon 2019:31456290}" "" "c.5333_5336del" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94014668_94014671del" "" "pathogenic (recessive)" ""
"0000769990" "0" "70" "1" "94480208" "94480208" "subst" "8.12275E-6" "01695" "ABCA4_001013" "g.94480208A>C" "" "{PMID:Sharon 2019:31456290}" "" "c.5351T>G" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94014652A>C" "" "likely pathogenic (recessive)" ""
"0000769991" "0" "70" "1" "94480208" "94480208" "subst" "8.12275E-6" "01695" "ABCA4_001013" "g.94480208A>C" "" "{PMID:Sharon 2019:31456290}" "" "c.5351T>G" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94014652A>C" "" "likely pathogenic (recessive)" ""
"0000769992" "0" "70" "1" "94480208" "94480208" "subst" "8.12275E-6" "01695" "ABCA4_001013" "g.94480208A>C" "" "{PMID:Sharon 2019:31456290}" "" "c.5351T>G" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94014652A>C" "" "likely pathogenic (recessive)" ""
"0000769993" "0" "70" "1" "94480208" "94480208" "subst" "8.12275E-6" "01695" "ABCA4_001013" "g.94480208A>C" "" "{PMID:Sharon 2019:31456290}" "" "c.5351T>G" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94014652A>C" "" "likely pathogenic (recessive)" ""
"0000769994" "0" "70" "1" "94480208" "94480208" "subst" "8.12275E-6" "01695" "ABCA4_001013" "g.94480208A>C" "" "{PMID:Sharon 2019:31456290}" "" "c.5351T>G" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94014652A>C" "" "likely pathogenic (recessive)" ""
"0000769995" "0" "70" "1" "94480179" "94480179" "subst" "0" "01695" "ABCA4_000991" "g.94480179C>G" "" "{PMID:Sharon 2019:31456290}" "" "c.5380G>C" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94014623C>G" "" "likely pathogenic (recessive)" ""
"0000769996" "0" "70" "1" "94480179" "94480179" "subst" "0" "01695" "ABCA4_000991" "g.94480179C>G" "" "{PMID:Sharon 2019:31456290}" "" "c.5380G>C" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94014623C>G" "" "likely pathogenic (recessive)" ""
"0000769997" "0" "70" "1" "94480179" "94480179" "subst" "0" "01695" "ABCA4_000991" "g.94480179C>G" "" "{PMID:Sharon 2019:31456290}" "" "c.5380G>C" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94014623C>G" "" "likely pathogenic (recessive)" ""
"0000769998" "0" "70" "1" "94480179" "94480179" "subst" "0" "01695" "ABCA4_000991" "g.94480179C>G" "" "{PMID:Sharon 2019:31456290}" "" "c.5380G>C" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94014623C>G" "" "likely pathogenic (recessive)" ""
"0000769999" "0" "70" "1" "94480179" "94480179" "subst" "0" "01695" "ABCA4_000991" "g.94480179C>G" "" "{PMID:Sharon 2019:31456290}" "" "c.5380G>C" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94014623C>G" "" "likely pathogenic (recessive)" ""
"0000770000" "0" "70" "1" "94480179" "94480179" "subst" "0" "01695" "ABCA4_000991" "g.94480179C>G" "" "{PMID:Sharon 2019:31456290}" "" "c.5380G>C" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94014623C>G" "" "likely pathogenic (recessive)" ""
"0000770001" "0" "70" "1" "94480179" "94480179" "subst" "0" "01695" "ABCA4_000991" "g.94480179C>G" "" "{PMID:Sharon 2019:31456290}" "" "c.5380G>C" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94014623C>G" "" "likely pathogenic (recessive)" ""
"0000770002" "0" "70" "1" "94480179" "94480179" "subst" "0" "01695" "ABCA4_000991" "g.94480179C>G" "" "{PMID:Sharon 2019:31456290}" "" "c.5380G>C" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94014623C>G" "" "likely pathogenic (recessive)" ""
"0000770003" "0" "70" "1" "94480179" "94480179" "subst" "0" "01695" "ABCA4_000991" "g.94480179C>G" "" "{PMID:Sharon 2019:31456290}" "" "c.5380G>C" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94014623C>G" "" "likely pathogenic (recessive)" ""
"0000770004" "0" "70" "1" "94480179" "94480179" "subst" "0" "01695" "ABCA4_000991" "g.94480179C>G" "" "{PMID:Sharon 2019:31456290}" "" "c.5380G>C" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94014623C>G" "" "likely pathogenic (recessive)" ""
"0000770005" "0" "70" "1" "94480179" "94480179" "subst" "0" "01695" "ABCA4_000991" "g.94480179C>G" "" "{PMID:Sharon 2019:31456290}" "" "c.5380G>C" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94014623C>G" "" "likely pathogenic (recessive)" ""
"0000770006" "0" "70" "1" "94480179" "94480179" "subst" "0" "01695" "ABCA4_000991" "g.94480179C>G" "" "{PMID:Sharon 2019:31456290}" "" "c.5380G>C" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94014623C>G" "" "likely pathogenic (recessive)" ""
"0000770007" "0" "70" "1" "94480179" "94480179" "subst" "0" "01695" "ABCA4_000991" "g.94480179C>G" "" "{PMID:Sharon 2019:31456290}" "" "c.5380G>C" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94014623C>G" "" "likely pathogenic (recessive)" ""
"0000770008" "0" "70" "1" "94480179" "94480179" "subst" "0" "01695" "ABCA4_000991" "g.94480179C>G" "" "{PMID:Sharon 2019:31456290}" "" "c.5380G>C" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94014623C>G" "" "likely pathogenic (recessive)" ""
"0000770009" "0" "70" "1" "94480179" "94480179" "subst" "0" "01695" "ABCA4_000991" "g.94480179C>G" "" "{PMID:Sharon 2019:31456290}" "" "c.5380G>C" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94014623C>G" "" "likely pathogenic (recessive)" ""
"0000770010" "0" "90" "1" "94480098" "94480098" "subst" "0" "01695" "ABCA4_000437" "g.94480098C>T" "" "{PMID:Sharon 2019:31456290}" "" "c.5460+1G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94014542C>T" "" "pathogenic (recessive)" ""
"0000770011" "0" "90" "1" "94480098" "94480098" "subst" "0" "01695" "ABCA4_000437" "g.94480098C>T" "" "{PMID:Sharon 2019:31456290}" "" "c.5460+1G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94014542C>T" "" "pathogenic (recessive)" ""
"0000770012" "0" "90" "1" "94480098" "94480098" "subst" "0" "01695" "ABCA4_000437" "g.94480098C>T" "" "{PMID:Sharon 2019:31456290}" "" "c.5460+1G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94014542C>T" "" "pathogenic (recessive)" ""
"0000770013" "0" "90" "1" "94480098" "94480098" "subst" "0" "01695" "ABCA4_000437" "g.94480098C>T" "" "{PMID:Sharon 2019:31456290}" "" "c.5460+1G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94014542C>T" "" "pathogenic (recessive)" ""
"0000770014" "0" "90" "1" "94480098" "94480098" "subst" "0" "01695" "ABCA4_000437" "g.94480098C>T" "" "{PMID:Sharon 2019:31456290}" "" "c.5460+1G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94014542C>T" "" "pathogenic (recessive)" ""
"0000770015" "0" "90" "1" "94480098" "94480098" "subst" "0" "01695" "ABCA4_000437" "g.94480098C>T" "" "{PMID:Sharon 2019:31456290}" "" "c.5460+1G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94014542C>T" "" "pathogenic (recessive)" ""
"0000770016" "0" "90" "1" "94480098" "94480098" "subst" "0" "01695" "ABCA4_000437" "g.94480098C>T" "" "{PMID:Sharon 2019:31456290}" "" "c.5460+1G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94014542C>T" "" "pathogenic (recessive)" ""
"0000770017" "0" "90" "1" "94480098" "94480098" "subst" "0" "01695" "ABCA4_000437" "g.94480098C>T" "" "{PMID:Sharon 2019:31456290}" "" "c.5460+1G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94014542C>T" "" "pathogenic (recessive)" ""
"0000770018" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Sharon 2019:31456290}" "" "c.5603A>T" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000770019" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Sharon 2019:31456290}" "" "c.5603A>T" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000770020" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Sharon 2019:31456290}" "" "c.5714+5G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000770021" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Sharon 2019:31456290}" "" "c.5714+5G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000770022" "0" "50" "1" "94474320" "94474320" "subst" "4.06065E-6" "01695" "ABCA4_000407" "g.94474320T>G" "" "{PMID:Sharon 2019:31456290}" "" "c.5822A>C" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008764T>G" "" "VUS" ""
"0000770023" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sharon 2019:31456290}" "" "c.5882G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000770024" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sharon 2019:31456290}" "" "c.5882G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000770025" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sharon 2019:31456290}" "" "c.5882G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000770026" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sharon 2019:31456290}" "" "c.5882G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000770027" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sharon 2019:31456290}" "" "c.5882G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000770028" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sharon 2019:31456290}" "" "c.5882G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000770029" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sharon 2019:31456290}" "" "c.5882G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000770030" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sharon 2019:31456290}" "" "c.5882G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000770031" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sharon 2019:31456290}" "" "c.5882G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000770032" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sharon 2019:31456290}" "" "c.5882G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000770033" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sharon 2019:31456290}" "" "c.5882G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000770034" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sharon 2019:31456290}" "" "c.5882G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000770035" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sharon 2019:31456290}" "" "c.5882G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000770036" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sharon 2019:31456290}" "" "c.5882G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000770037" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sharon 2019:31456290}" "" "c.5882G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000770038" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sharon 2019:31456290}" "" "c.5882G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000770039" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sharon 2019:31456290}" "" "c.5882G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000770040" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sharon 2019:31456290}" "" "c.5882G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000770041" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sharon 2019:31456290}" "" "c.5882G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000770042" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sharon 2019:31456290}" "" "c.5882G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000770043" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sharon 2019:31456290}" "" "c.5882G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000770044" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sharon 2019:31456290}" "" "c.5882G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000770045" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sharon 2019:31456290}" "" "c.5882G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000770046" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sharon 2019:31456290}" "" "c.5882G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000770047" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sharon 2019:31456290}" "" "c.5882G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000770048" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sharon 2019:31456290}" "" "c.5882G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000770049" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sharon 2019:31456290}" "" "c.5882G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000770050" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sharon 2019:31456290}" "" "c.5882G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000770051" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sharon 2019:31456290}" "" "c.5882G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000770052" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sharon 2019:31456290}" "" "c.5882G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000770053" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sharon 2019:31456290}" "" "c.5882G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000770054" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sharon 2019:31456290}" "" "c.5882G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000770055" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sharon 2019:31456290}" "" "c.5882G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000770056" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sharon 2019:31456290}" "" "c.5882G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000770057" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sharon 2019:31456290}" "" "c.5882G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000770058" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sharon 2019:31456290}" "" "c.5882G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000770059" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sharon 2019:31456290}" "" "c.5882G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000770060" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sharon 2019:31456290}" "" "c.5882G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000770061" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sharon 2019:31456290}" "" "c.5882G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000770062" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sharon 2019:31456290}" "" "c.5882G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000770063" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sharon 2019:31456290}" "" "c.5882G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000770064" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sharon 2019:31456290}" "" "c.5882G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000770065" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sharon 2019:31456290}" "" "c.5882G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000770066" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sharon 2019:31456290}" "" "c.5882G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000770067" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sharon 2019:31456290}" "" "c.5882G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000770068" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sharon 2019:31456290}" "" "c.5882G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000770069" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sharon 2019:31456290}" "" "c.5882G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000770070" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sharon 2019:31456290}" "" "c.5882G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000770071" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sharon 2019:31456290}" "" "c.5882G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000770072" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sharon 2019:31456290}" "" "c.5882G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000770073" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sharon 2019:31456290}" "" "c.5882G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000770074" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sharon 2019:31456290}" "" "c.5882G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000770075" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sharon 2019:31456290}" "" "c.5882G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000770076" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sharon 2019:31456290}" "" "c.5882G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000770077" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sharon 2019:31456290}" "" "c.5882G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000770078" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sharon 2019:31456290}" "" "c.5882G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000770079" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sharon 2019:31456290}" "" "c.5882G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000770080" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sharon 2019:31456290}" "" "c.5882G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000770081" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sharon 2019:31456290}" "" "c.5882G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000770082" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sharon 2019:31456290}" "" "c.5882G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000770083" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sharon 2019:31456290}" "" "c.5882G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000770084" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sharon 2019:31456290}" "" "c.5882G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000770085" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sharon 2019:31456290}" "" "c.5882G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000770086" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sharon 2019:31456290}" "" "c.5882G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000770087" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sharon 2019:31456290}" "" "c.5882G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000770088" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sharon 2019:31456290}" "" "c.5882G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000770089" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sharon 2019:31456290}" "" "c.5882G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000770090" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sharon 2019:31456290}" "" "c.5882G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000770091" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sharon 2019:31456290}" "" "c.5882G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000770092" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sharon 2019:31456290}" "" "c.5882G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000770093" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sharon 2019:31456290}" "" "c.5882G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000770094" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sharon 2019:31456290}" "" "c.5882G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000770095" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sharon 2019:31456290}" "" "c.5882G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000770096" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sharon 2019:31456290}" "" "c.5882G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000770097" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sharon 2019:31456290}" "" "c.5882G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000770098" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sharon 2019:31456290}" "" "c.5882G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000770099" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sharon 2019:31456290}" "" "c.5882G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000770100" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sharon 2019:31456290}" "" "c.5882G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000770101" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sharon 2019:31456290}" "" "c.5882G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000770102" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sharon 2019:31456290}" "" "c.5882G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000770103" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sharon 2019:31456290}" "" "c.5882G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000770104" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sharon 2019:31456290}" "" "c.5882G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000770105" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sharon 2019:31456290}" "" "c.5882G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000770106" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sharon 2019:31456290}" "" "c.5882G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000770107" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sharon 2019:31456290}" "" "c.5882G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000770108" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sharon 2019:31456290}" "" "c.5882G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000770109" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sharon 2019:31456290}" "" "c.5882G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000770110" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sharon 2019:31456290}" "" "c.5882G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000770111" "0" "90" "1" "94473278" "94473278" "del" "3.25908E-5" "01695" "ABCA4_000392" "g.94473278del" "" "{PMID:Sharon 2019:31456290}" "" "c.5917del" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94007722del" "" "pathogenic (recessive)" ""
"0000770112" "0" "70" "1" "94473266" "94473266" "subst" "8.14677E-6" "01695" "ABCA4_000389" "g.94473266C>T" "" "{PMID:Sharon 2019:31456290}" "" "c.5929G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94007710C>T" "" "likely pathogenic (recessive)" ""
"0000770113" "0" "90" "1" "94471067" "94471067" "del" "0" "01695" "ABCA4_001012" "g.94471067del" "" "{PMID:Sharon 2019:31456290}" "" "c.6077del" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94005511del" "" "pathogenic (recessive)" ""
"0000770114" "0" "90" "1" "94471067" "94471067" "del" "0" "01695" "ABCA4_001012" "g.94471067del" "" "{PMID:Sharon 2019:31456290}" "" "c.6077del" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94005511del" "" "pathogenic (recessive)" ""
"0000770115" "0" "90" "1" "94471067" "94471067" "del" "0" "01695" "ABCA4_001012" "g.94471067del" "" "{PMID:Sharon 2019:31456290}" "" "c.6077del" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94005511del" "" "pathogenic (recessive)" ""
"0000770116" "0" "90" "1" "94471067" "94471067" "del" "0" "01695" "ABCA4_001012" "g.94471067del" "" "{PMID:Sharon 2019:31456290}" "" "c.6077del" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94005511del" "" "pathogenic (recessive)" ""
"0000770117" "0" "90" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Sharon 2019:31456290}" "" "c.634C>T" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94098928G>A" "" "pathogenic (recessive)" ""
"0000770118" "0" "90" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Sharon 2019:31456290}" "" "c.634C>T" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94098928G>A" "" "pathogenic (recessive)" ""
"0000770119" "0" "90" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Sharon 2019:31456290}" "" "c.634C>T" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94098928G>A" "" "pathogenic (recessive)" ""
"0000770120" "0" "90" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Sharon 2019:31456290}" "" "c.634C>T" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94098928G>A" "" "pathogenic (recessive)" ""
"0000770121" "0" "90" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Sharon 2019:31456290}" "" "c.634C>T" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94098928G>A" "" "pathogenic (recessive)" ""
"0000770122" "0" "90" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Sharon 2019:31456290}" "" "c.634C>T" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94098928G>A" "" "pathogenic (recessive)" ""
"0000770123" "0" "90" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Sharon 2019:31456290}" "" "c.634C>T" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94098928G>A" "" "pathogenic (recessive)" ""
"0000770124" "0" "70" "1" "94466558" "94466558" "subst" "0" "01695" "ABCA4_001011" "g.94466558C>T" "" "{PMID:Sharon 2019:31456290}" "" "c.6386G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94001002C>T" "" "likely pathogenic (recessive)" ""
"0000770125" "0" "70" "1" "94463583" "94463583" "subst" "8.12183E-6" "01695" "ABCA4_000806" "g.94463583A>G" "" "{PMID:Sharon 2019:31456290}" "" "c.6563T>C" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.93998027A>G" "" "likely pathogenic (recessive)" ""
"0000770126" "0" "70" "1" "94463583" "94463583" "subst" "8.12183E-6" "01695" "ABCA4_000806" "g.94463583A>G" "" "{PMID:Sharon 2019:31456290}" "" "c.6563T>C" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.93998027A>G" "" "likely pathogenic (recessive)" ""
"0000770127" "0" "70" "1" "94463583" "94463583" "subst" "8.12183E-6" "01695" "ABCA4_000806" "g.94463583A>G" "" "{PMID:Sharon 2019:31456290}" "" "c.6563T>C" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.93998027A>G" "" "likely pathogenic (recessive)" ""
"0000770128" "0" "70" "1" "94463583" "94463583" "subst" "8.12183E-6" "01695" "ABCA4_000806" "g.94463583A>G" "" "{PMID:Sharon 2019:31456290}" "" "c.6563T>C" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.93998027A>G" "" "likely pathogenic (recessive)" ""
"0000770129" "0" "70" "1" "94463583" "94463583" "subst" "8.12183E-6" "01695" "ABCA4_000806" "g.94463583A>G" "" "{PMID:Sharon 2019:31456290}" "" "c.6563T>C" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.93998027A>G" "" "likely pathogenic (recessive)" ""
"0000770130" "0" "70" "1" "94463583" "94463583" "subst" "8.12183E-6" "01695" "ABCA4_000806" "g.94463583A>G" "" "{PMID:Sharon 2019:31456290}" "" "c.6563T>C" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.93998027A>G" "" "likely pathogenic (recessive)" ""
"0000770131" "0" "90" "1" "94548932" "94548932" "del" "4.06587E-6" "01695" "ABCA4_001022" "g.94548932del" "" "{PMID:Sharon 2019:31456290}" "" "c.834del" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94083376del" "" "pathogenic (recessive)" ""
"0000770132" "0" "90" "1" "94548932" "94548932" "del" "4.06587E-6" "01695" "ABCA4_001022" "g.94548932del" "" "{PMID:Sharon 2019:31456290}" "" "c.834del" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94083376del" "" "pathogenic (recessive)" ""
"0000770133" "0" "90" "1" "94548932" "94548932" "del" "4.06587E-6" "01695" "ABCA4_001022" "g.94548932del" "" "{PMID:Sharon 2019:31456290}" "" "c.834del" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94083376del" "" "pathogenic (recessive)" ""
"0000770134" "0" "90" "1" "94548932" "94548932" "del" "4.06587E-6" "01695" "ABCA4_001022" "g.94548932del" "" "{PMID:Sharon 2019:31456290}" "" "c.834del" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94083376del" "" "pathogenic (recessive)" ""
"0000770135" "0" "90" "1" "94548932" "94548932" "del" "4.06587E-6" "01695" "ABCA4_001022" "g.94548932del" "" "{PMID:Sharon 2019:31456290}" "" "c.834del" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94083376del" "" "pathogenic (recessive)" ""
"0000770136" "0" "90" "1" "94520844" "94520845" "del" "0" "01695" "ABCA4_002030" "g.94520844_94520845del" "" "{PMID:Valkenburg 2019:31522899}" "" "c.2409_2410del p.(Phe804Trpfs*3)" "" "Unknown" "" "" "0" "" "" "g.94055288_94055289del" "" "pathogenic (recessive)" ""
"0000770137" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Valkenburg 2019:31522899}" "" "c.768G>T p.(Leu257Valfs*17)" "" "Unknown" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000770138" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Valkenburg 2019:31522899}" "" "c.768G>T p.(Leu257Valfs*17)" "" "Unknown" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000770139" "0" "90" "1" "94487401" "94487401" "subst" "4.06085E-6" "01695" "ABCA4_000995" "g.94487401C>T" "" "{PMID:Valkenburg 2019:31522899}" "" "c.4773+1G>A p.(?)" "" "Unknown" "" "" "0" "" "" "g.94021845C>T" "" "pathogenic (recessive)" ""
"0000770140" "0" "90" "1" "94487401" "94487401" "subst" "4.06085E-6" "01695" "ABCA4_000995" "g.94487401C>T" "" "{PMID:Valkenburg 2019:31522899}" "" "c.4773+1G>A p.(?)" "" "Unknown" "" "" "0" "" "" "g.94021845C>T" "" "pathogenic (recessive)" ""
"0000770141" "3" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Valkenburg 2019:31522899}" "" "c.5461-10T>C p.(Thr1821Aspfs*6)" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000770142" "3" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Valkenburg 2019:31522899}" "" "c.5461-10T>C p.(Thr1821Aspfs*6)" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000770143" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Valkenburg 2019:31522899}" "" "c.768G>T p.(Leu257Valfs*17)" "" "Unknown" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000770144" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Valkenburg 2019:31522899}" "" "c.768G>T p.(Leu257Valfs*17)" "" "Unknown" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000770145" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Valkenburg 2019:31522899}" "" "c.768G>T p.(Leu257Valfs*17)" "" "Unknown" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000770146" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Valkenburg 2019:31522899}" "" "c.768G>T p.(Leu257Valfs*17)" "" "Unknown" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000770147" "0" "90" "1" "94520844" "94520845" "del" "0" "01695" "ABCA4_002030" "g.94520844_94520845del" "" "{PMID:Valkenburg 2019:31522899}" "" "c.2409_2410del p.(Phe804Trpfs*3)" "" "Unknown" "" "" "0" "" "" "g.94055288_94055289del" "" "pathogenic (recessive)" ""
"0000770148" "0" "90" "1" "94474381" "94474382" "dup" "0" "01695" "ABCA4_000409" "g.94474381_94474382dup" "" "{PMID:Valkenburg 2019:31522899}" "" "c.5762_5763dup p.(Ala1922Trpfs*18)" "" "Unknown" "" "" "0" "" "" "g.94008825_94008826dup" "" "pathogenic (recessive)" ""
"0000770149" "0" "90" "1" "94474381" "94474382" "dup" "0" "01695" "ABCA4_000409" "g.94474381_94474382dup" "" "{PMID:Valkenburg 2019:31522899}" "" "c.5762_5763dup p.(Ala1922Trpfs*18)" "" "Unknown" "" "" "0" "" "" "g.94008825_94008826dup" "" "pathogenic (recessive)" ""
"0000770150" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Valkenburg 2019:31522899}" "" "c.768G>T p.(Leu257Valfs*17)" "" "Unknown" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000770151" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Valkenburg 2019:31522899}" "" "c.768G>T p.(Leu257Valfs*17)" "" "Unknown" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000770152" "0" "90" "1" "94508386" "94508386" "subst" "1.62443E-5" "01695" "ABCA4_000642" "g.94508386C>T" "" "{PMID:Valkenburg 2019:31522899}{PMID:Lambertus 2017:28355279}" "" "c.3259G>A p.(Glu1087Lys)" "" "Unknown" "" "" "0" "" "" "g.94042830C>T" "" "pathogenic (recessive)" ""
"0000770153" "0" "90" "1" "94508386" "94508386" "subst" "1.62443E-5" "01695" "ABCA4_000642" "g.94508386C>T" "" "{PMID:Valkenburg 2019:31522899}{PMID:Lambertus 2017:28355279}" "" "c.3259G>A p.(Glu1087Lys)" "" "Unknown" "" "" "0" "" "" "g.94042830C>T" "" "pathogenic (recessive)" ""
"0000770154" "0" "70" "1" "94476865" "94476865" "subst" "2.03107E-5" "01695" "ABCA4_000430" "g.94476865A>G" "" "{PMID:Valkenburg 2019:31522899}" "" "c.5537T>C p.(Ile1846Thr)" "" "Unknown" "" "" "0" "" "" "g.94011309A>G" "" "likely pathogenic (recessive)" ""
"0000770155" "0" "70" "1" "94476865" "94476865" "subst" "2.03107E-5" "01695" "ABCA4_000430" "g.94476865A>G" "" "{PMID:Valkenburg 2019:31522899}" "" "c.5537T>C p.(Ile1846Thr)" "" "Unknown" "" "" "0" "" "" "g.94011309A>G" "" "likely pathogenic (recessive)" ""
"0000770156" "0" "90" "1" "94520844" "94520845" "del" "0" "01695" "ABCA4_002030" "g.94520844_94520845del" "" "{PMID:Valkenburg 2019:31522899}" "" "c.2409_2410del p.(Phe804Trpfs*3)" "" "Unknown" "" "" "0" "" "" "g.94055288_94055289del" "" "pathogenic (recessive)" ""
"0000770157" "0" "70" "1" "94476865" "94476865" "subst" "2.03107E-5" "01695" "ABCA4_000430" "g.94476865A>G" "" "{PMID:Valkenburg 2019:31522899}" "" "c.5537T>C p.(Ile1846Thr)" "" "Unknown" "" "" "0" "" "" "g.94011309A>G" "" "likely pathogenic (recessive)" ""
"0000770158" "0" "70" "1" "94476865" "94476865" "subst" "2.03107E-5" "01695" "ABCA4_000430" "g.94476865A>G" "" "{PMID:Valkenburg 2019:31522899}" "" "c.5537T>C p.(Ile1846Thr)" "" "Unknown" "" "" "0" "" "" "g.94011309A>G" "" "likely pathogenic (recessive)" ""
"0000770159" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Valkenburg 2019:31522899}" "" "c.768G>T p.(Leu257Valfs*17)" "" "Unknown" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000770160" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Valkenburg 2019:31522899}" "" "c.768G>T" "" "Unknown" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000770161" "0" "70" "1" "94484001" "94484001" "subst" "0" "01695" "ABCA4_000016" "g.94484001C>T" "" "{PMID:Valkenburg 2019:31522899}" "" "c.5196+1137G>A" "" "Unknown" "" "" "0" "" "" "g.94018445C>T" "" "likely pathogenic (recessive)" ""
"0000770162" "0" "70" "1" "94484001" "94484001" "subst" "0" "01695" "ABCA4_000016" "g.94484001C>T" "" "{PMID:Valkenburg 2019:31522899}" "" "c.5196+1137G>A" "" "Unknown" "" "" "0" "" "" "g.94018445C>T" "" "likely pathogenic (recessive)" ""
"0000770163" "0" "90" "1" "94568570" "94568699" "" "0" "01695" "ABCA4_000047" "g.(94564548_94568570)_(94568699_94574132)del" "" "{PMID:Valkenburg 2019:31522899}" "" "c.443-?_570+?del" "" "Unknown" "" "" "0" "" "" "g.(94098992_94103014)_(94103143_94108576)del" "" "pathogenic (recessive)" ""
"0000770164" "0" "90" "1" "94568570" "94568699" "" "0" "01695" "ABCA4_000047" "g.(94564548_94568570)_(94568699_94574132)del" "" "{PMID:Valkenburg 2019:31522899}" "" "c.443-?_570+?del" "" "Unknown" "" "" "0" "" "" "g.(94098992_94103014)_(94103143_94108576)del" "" "pathogenic (recessive)" ""
"0000770165" "1" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Valkenburg 2019:31522899}" "" "c.[2588G>C; 5603A>T]" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000770166" "1" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Valkenburg 2019:31522899}" "" "c.[2588G>C; 5603A>T]" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000770167" "1" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Valkenburg 2019:31522899}" "" "c.[2588G>C; 5603A>T]" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000770168" "1" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Valkenburg 2019:31522899}" "" "c.[2588G>C; 5603A>T]" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000770169" "0" "90" "1" "94506764" "94506764" "subst" "0" "01695" "ABCA4_001173" "g.94506764C>T" "" "{PMID:Hu 2019:31543898}" "" "c.3522+1G>A" "" "Unknown" "" "" "0" "" "" "g.94041208C>T" "" "pathogenic (recessive)" ""
"0000770170" "0" "70" "1" "94463583" "94463583" "subst" "8.12183E-6" "01695" "ABCA4_000806" "g.94463583A>G" "" "{PMID:Hu 2019:31543898}" "" "c.6563T>C" "" "Unknown" "" "" "0" "" "" "g.93998027A>G" "" "likely pathogenic (recessive)" ""
"0000770171" "0" "50" "1" "94466482" "94466482" "subst" "0" "01695" "ABCA4_000829" "g.94466482A>T" "" "{PMID:Hu 2019:31543898}" "" "c.6389T>A" "" "Unknown" "" "" "0" "" "" "g.94000926A>T" "" "VUS" ""
"0000770172" "0" "70" "1" "94546029" "94546029" "subst" "0" "01695" "ABCA4_001318" "g.94546029C>T" "" "{PMID:Hu 2019:31543898}" "" "c.1099+5G>A" "" "Unknown" "" "" "0" "" "" "g.94080473C>T" "" "likely pathogenic (recessive)" ""
"0000770173" "0" "70" "1" "94522278" "94522278" "subst" "0" "01695" "ABCA4_001306" "g.94522278A>G" "" "{PMID:Hu 2019:31543898}" "" "c.2261T>C" "" "Unknown" "" "" "0" "" "" "g.94056722A>G" "" "likely pathogenic (recessive)" ""
"0000770174" "0" "90" "1" "94486961" "94486961" "subst" "0" "01695" "ABCA4_001286" "g.94486961C>T" "" "{PMID:Hu 2019:31543898}" "" "c.4853G>A" "" "Unknown" "" "" "0" "" "" "g.94021405C>T" "" "pathogenic (recessive)" ""
"0000770175" "0" "90" "1" "94522362" "94522362" "del" "0" "01695" "ABCA4_001307" "g.94522362del" "" "{PMID:Hu 2019:31543898}" "" "c.2177delA" "" "Unknown" "" "" "0" "" "" "g.94056806del" "" "pathogenic (recessive)" ""
"0000770176" "0" "70" "1" "94522278" "94522278" "subst" "0" "01695" "ABCA4_001306" "g.94522278A>G" "" "{PMID:Hu 2019:31543898}" "" "c.2261T>C" "" "Unknown" "" "" "0" "" "" "g.94056722A>G" "" "likely pathogenic (recessive)" ""
"0000770177" "0" "70" "1" "94528164" "94528164" "subst" "0" "01695" "ABCA4_001311" "g.94528164G>T" "" "{PMID:Hu 2019:31543898}" "" "c.1906C>A" "" "Unknown" "" "" "0" "" "" "g.94062608G>T" "" "likely pathogenic (recessive)" ""
"0000770178" "0" "70" "1" "94543428" "94543428" "subst" "0" "01695" "ABCA4_001315" "g.94543428G>A" "" "{PMID:Hu 2019:31543898}" "" "c.1372C>T" "" "Unknown" "" "" "0" "" "" "g.94077872G>A" "" "likely pathogenic (recessive)" ""
"0000770179" "0" "50" "1" "94474381" "94474381" "subst" "1.21849E-5" "01695" "ABCA4_000410" "g.94474381C>T" "" "{PMID:Hu 2019:31543898}" "" "c.5761G>A" "" "Unknown" "" "" "0" "" "" "g.94008825C>T" "" "VUS" ""
"0000770180" "0" "70" "1" "94480232" "94480232" "subst" "0" "01695" "ABCA4_000444" "g.94480232G>A" "" "{PMID:Hu 2019:31543898}" "" "c.5327C>T" "" "Unknown" "" "" "0" "" "" "g.94014676G>A" "" "likely pathogenic (recessive)" ""
"0000770181" "0" "90" "1" "94467550" "94467550" "subst" "0" "01695" "ABCA4_001277" "g.94467550T>A" "" "{PMID:Hu 2019:31543898}" "" "c.6148-2A>T" "" "Unknown" "" "" "0" "" "" "g.94001994T>A" "" "pathogenic (recessive)" ""
"0000770182" "0" "70" "1" "94476875" "94476875" "subst" "1.62489E-5" "01695" "ABCA4_001280" "g.94476875G>A" "" "{PMID:Hu 2019:31543898}" "" "c.5527C>T" "" "Unknown" "" "" "0" "" "" "g.94011319G>A" "" "likely pathogenic (recessive)" ""
"0000770183" "0" "90" "1" "94485234" "94485234" "subst" "0" "01695" "ABCA4_001282" "g.94485234A>C" "" "{PMID:Hu 2019:31543898}" "" "c.5100T>G" "" "Unknown" "" "" "0" "" "" "g.94019678A>C" "" "pathogenic (recessive)" ""
"0000770184" "0" "90" "1" "94463521" "94463521" "subst" "0" "01695" "ABCA4_001272" "g.94463521G>A" "" "{PMID:Hu 2019:31543898}" "" "c.6625C>T" "" "Unknown" "" "" "0" "" "" "g.93997965G>A" "" "pathogenic (recessive)" ""
"0000770185" "0" "90" "1" "94463521" "94463521" "subst" "0" "01695" "ABCA4_001272" "g.94463521G>A" "" "{PMID:Hu 2019:31543898}" "" "c.6625C>T" "" "Unknown" "" "" "0" "" "" "g.93997965G>A" "" "pathogenic (recessive)" ""
"0000770186" "0" "90" "1" "94495157" "94495157" "subst" "0" "01695" "ABCA4_000545" "g.94495157C>T" "" "{PMID:Hu 2019:31543898}" "" "c.4383G>A" "" "Unknown" "" "" "0" "" "" "g.94029601C>T" "" "pathogenic (recessive)" ""
"0000770187" "0" "90" "1" "94495157" "94495157" "subst" "0" "01695" "ABCA4_000545" "g.94495157C>T" "" "{PMID:Hu 2019:31543898}" "" "c.4383G>A" "" "Unknown" "" "" "0" "" "" "g.94029601C>T" "" "pathogenic (recessive)" ""
"0000770188" "0" "70" "1" "94577006" "94577006" "subst" "8.13511E-6" "01695" "ABCA4_001324" "g.94577006T>C" "" "{PMID:Hu 2019:31543898}" "" "c.290A>G" "" "Unknown" "" "" "0" "" "" "g.94111450T>C" "" "likely pathogenic (recessive)" ""
"0000770189" "0" "90" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Hu 2019:31543898}" "" "c.2894A>G" "" "Unknown" "" "" "0" "" "" "g.94046943T>C" "" "pathogenic (recessive)" ""
"0000770190" "0" "90" "1" "94467413" "94467413" "subst" "0" "01695" "ABCA4_001276" "g.94467413C>T" "" "{PMID:Hu 2019:31543898}" "" "c.6282+1G>A" "" "Unknown" "" "" "0" "" "" "g.94001857C>T" "" "pathogenic (recessive)" ""
"0000770191" "0" "70" "1" "94506910" "94506910" "subst" "0" "01695" "ABCA4_001297" "g.94506910A>C" "" "{PMID:Hu 2019:31543898}" "" "c.3377T>G" "" "Unknown" "" "" "0" "" "" "g.94041354A>C" "" "likely pathogenic (recessive)" ""
"0000770192" "0" "90" "1" "94528868" "94528868" "del" "0" "01695" "ABCA4_000304" "g.94528868del" "" "{PMID:Hu 2019:31543898}" "" "c.1561delG" "" "Unknown" "" "" "0" "" "" "g.94063312del" "" "pathogenic (recessive)" ""
"0000770193" "0" "90" "1" "94528311" "94528311" "subst" "0" "01695" "ABCA4_001138" "g.94528311T>C" "" "{PMID:Hu 2019:31543898}" "" "c.1761-2A>G" "" "Unknown" "" "" "0" "" "" "g.94062755T>C" "" "pathogenic (recessive)" ""
"0000770194" "0" "90" "1" "94526317" "94526317" "subst" "0" "01695" "ABCA4_000770" "g.94526317T>C" "" "{PMID:Hu 2019:31543898}" "" "c.1938-2A>G" "" "Unknown" "" "" "0" "" "" "g.94060761T>C" "" "pathogenic (recessive)" ""
"0000770195" "0" "90" "1" "94528868" "94528868" "del" "0" "01695" "ABCA4_000304" "g.94528868del" "" "{PMID:Hu 2019:31543898}" "" "c.1561delG" "" "Unknown" "" "" "0" "" "" "g.94063312del" "" "pathogenic (recessive)" ""
"0000770196" "3" "90" "1" "94496652" "94496652" "del" "0" "01695" "ABCA4_001290" "g.94496652del" "" "{PMID:Hu 2019:31543898}" "" "c.4157delT" "" "Unknown" "" "" "0" "" "" "g.94031096del" "" "pathogenic (recessive)" ""
"0000770197" "0" "70" "1" "94528178" "94528178" "subst" "4.06666E-6" "01695" "ABCA4_001312" "g.94528178C>A" "" "{PMID:Hu 2019:31543898}" "" "c.1892G>T" "" "Unknown" "" "" "0" "" "" "g.94062622C>A" "" "likely pathogenic (recessive)" ""
"0000770198" "0" "70" "1" "94546150" "94546150" "subst" "4.06828E-6" "01695" "ABCA4_000346" "g.94546150T>A" "" "{PMID:Hu 2019:31543898}" "" "c.983A>T" "" "Unknown" "" "" "0" "" "" "g.94080594T>A" "" "likely pathogenic (recessive)" ""
"0000770199" "0" "90" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Hu 2019:31543898}" "" "c.2894A>G" "" "Unknown" "" "" "0" "" "" "g.94046943T>C" "" "pathogenic (recessive)" ""
"0000770200" "0" "50" "1" "94578589" "94578594" "del" "0" "01695" "ABCA4_000249" "g.94578589_94578594del" "" "{PMID:Hu 2019:31543898}" "" "c.101_106delCTTTAT" "" "Unknown" "" "" "0" "" "" "g.94113033_94113038del" "" "VUS" ""
"0000770201" "0" "90" "1" "94490585" "94490585" "del" "0" "01695" "ABCA4_001287" "g.94490585del" "" "{PMID:Hu 2019:31543898}" "" "c.4561delA" "" "Unknown" "" "" "0" "" "" "g.94025029del" "" "pathogenic (recessive)" ""
"0000770202" "0" "90" "1" "94574149" "94574149" "del" "0" "01695" "ABCA4_001323" "g.94574149del" "" "{PMID:Hu 2019:31543898}" "" "c.428delC" "" "Unknown" "" "" "0" "" "" "g.94108593del" "" "pathogenic (recessive)" ""
"0000770203" "0" "70" "1" "94506867" "94506867" "subst" "0" "01695" "ABCA4_001296" "g.94506867G>C" "" "{PMID:Hu 2019:31543898}" "" "c.3420C>G" "" "Unknown" "" "" "0" "" "" "g.94041311G>C" "" "likely pathogenic (recessive)" ""
"0000770204" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Hu 2019:31543898}" "" "c.1804C>T" "" "Unknown" "" "" "0" "" "" "g.94062710G>A" "" "pathogenic (recessive)" ""
"0000770205" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Hu 2019:31543898}" "" "c.1804C>T" "" "Unknown" "" "" "0" "" "" "g.94062710G>A" "" "pathogenic (recessive)" ""
"0000770206" "3" "70" "1" "94476424" "94476424" "subst" "2.43694E-5" "01695" "ABCA4_000418" "g.94476424C>T" "" "{PMID:Hu 2019:31543898}" "" "c.5646G>A" "" "Unknown" "" "" "0" "" "" "g.94010868C>T" "" "likely pathogenic (recessive)" ""
"0000770207" "0" "70" "1" "94476818" "94476818" "subst" "0" "01695" "ABCA4_000162" "g.94476818C>G" "" "{PMID:Hu 2019:31543898}" "" "c.5584G>C" "" "Unknown" "" "" "0" "" "" "g.94011262C>G" "" "likely pathogenic (recessive)" ""
"0000770208" "0" "90" "1" "94520830" "94520830" "subst" "0" "01695" "ABCA4_000727" "g.94520830G>C" "" "{PMID:Hu 2019:31543898}" "" "c.2424C>G" "" "Unknown" "" "" "0" "" "" "g.94055274G>C" "" "pathogenic (recessive)" ""
"0000770209" "0" "90" "1" "94543419" "94543420" "del" "0" "01695" "ABCA4_001314" "g.94543419_94543420del" "" "{PMID:Hu 2019:31543898}" "" "c.1382_1383delAA" "" "Unknown" "" "" "0" "" "" "g.94077863_94077864del" "" "pathogenic (recessive)" ""
"0000770210" "3" "50" "1" "94578589" "94578594" "del" "0" "01695" "ABCA4_000249" "g.94578589_94578594del" "" "{PMID:Hu 2019:31543898}" "" "c.101_106delCTTTAT" "" "Unknown" "" "" "0" "" "" "g.94113033_94113038del" "" "VUS" ""
"0000770211" "0" "70" "1" "94508341" "94508341" "subst" "1.21857E-5" "01695" "ABCA4_001298" "g.94508341C>A" "" "{PMID:Hu 2019:31543898}" "" "c.3304G>T" "" "Unknown" "" "" "0" "" "" "g.94042785C>A" "" "likely pathogenic (recessive)" ""
"0000770212" "0" "90" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Hu 2019:31543898}" "" "c.2894A>G" "" "Unknown" "" "" "0" "" "" "g.94046943T>C" "" "pathogenic (recessive)" ""
"0000770213" "0" "90" "1" "94526194" "94526194" "dup" "0" "01695" "ABCA4_001308" "g.94526194dup" "" "{PMID:Hu 2019:31543898}" "" "c.2063_2064insA" "" "Unknown" "" "" "0" "" "" "g.94060638dup" "" "pathogenic (recessive)" ""
"0000770214" "0" "90" "1" "94485137" "94485137" "subst" "0" "01695" "ABCA4_000464" "g.94485137C>T" "" "{PMID:Hu 2019:31543898}" "" "c.5196+1G>A" "" "Unknown" "" "" "0" "" "" "g.94019581C>T" "" "pathogenic (recessive)" ""
"0000770215" "0" "50" "1" "94526230" "94526230" "subst" "7.32136E-5" "01695" "ABCA4_000760" "g.94526230C>T" "" "{PMID:Hu 2019:31543898}" "" "c.2023G>A" "" "Unknown" "" "" "0" "" "" "g.94060674C>T" "" "VUS" ""
"0000770216" "0" "90" "1" "94546116" "94546116" "subst" "0" "01695" "ABCA4_001319" "g.94546116C>T" "" "{PMID:Hu 2019:31543898}" "" "c.1017G>A" "" "Unknown" "" "" "0" "" "" "g.94080560C>T" "" "pathogenic (recessive)" ""
"0000770217" "0" "70" "1" "94486895" "94486895" "subst" "3.24923E-5" "01695" "ABCA4_000484" "g.94486895C>T" "" "{PMID:Hu 2019:31543898}" "" "c.4919G>A" "" "Unknown" "" "" "0" "" "" "g.94021339C>T" "" "likely pathogenic (recessive)" ""
"0000770218" "0" "90" "1" "94546127" "94546127" "del" "0" "01695" "ABCA4_001320" "g.94546127del" "" "{PMID:Hu 2019:31543898}" "" "c.1006delT" "" "Unknown" "" "" "0" "" "" "g.94080571del" "" "pathogenic (recessive)" ""
"0000770219" "0" "50" "1" "94528137" "94528137" "subst" "2.03363E-5" "01695" "ABCA4_000774" "g.94528137C>T" "" "{PMID:Hu 2019:31543898}" "" "c.1933G>A" "" "Unknown" "" "" "0" "" "" "g.94062581C>T" "" "VUS" ""
"0000770220" "0" "90" "1" "94528311" "94528311" "subst" "0" "01695" "ABCA4_001138" "g.94528311T>C" "" "{PMID:Hu 2019:31543898}" "" "c.1761-2A>G" "" "Unknown" "" "" "0" "" "" "g.94062755T>C" "" "pathogenic (recessive)" ""
"0000770221" "0" "90" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Hu 2019:31543898}" "" "c.2894A>G" "" "Unknown" "" "" "0" "" "" "g.94046943T>C" "" "pathogenic (recessive)" ""
"0000770222" "0" "70" "1" "94463583" "94463583" "subst" "8.12183E-6" "01695" "ABCA4_000806" "g.94463583A>G" "" "{PMID:Hu 2019:31543898}" "" "c.6563T>C" "" "Unknown" "" "" "0" "" "" "g.93998027A>G" "" "likely pathogenic (recessive)" ""
"0000770223" "0" "70" "1" "94496547" "94496547" "subst" "1.21904E-5" "01695" "ABCA4_000560" "g.94496547C>T" "" "{PMID:Hu 2019:31543898}" "" "c.4253+5G>A" "" "Unknown" "" "" "0" "" "" "g.94030991C>T" "" "likely pathogenic (recessive)" ""
"0000770224" "0" "70" "1" "94508996" "94508996" "subst" "0" "01695" "ABCA4_001302" "g.94508996T>G" "" "{PMID:Hu 2019:31543898}" "" "c.3086A>C" "" "Unknown" "" "" "0" "" "" "g.94043440T>G" "" "likely pathogenic (recessive)" ""
"0000770225" "0" "70" "1" "94506811" "94506811" "subst" "0" "01695" "ABCA4_001295" "g.94506811A>G" "" "{PMID:Hu 2019:31543898}" "" "c.3476T>C" "" "Unknown" "" "" "0" "" "" "g.94041255A>G" "" "likely pathogenic (recessive)" ""
"0000770226" "3" "70" "1" "94577129" "94577129" "subst" "0" "01695" "ABCA4_001326" "g.94577129A>C" "" "{PMID:Hu 2019:31543898}" "" "c.167T>G" "" "Unknown" "" "" "0" "" "" "g.94111573A>C" "" "likely pathogenic (recessive)" ""
"0000770227" "0" "50" "1" "94528137" "94528137" "subst" "2.03363E-5" "01695" "ABCA4_000774" "g.94528137C>T" "" "{PMID:Hu 2019:31543898}" "" "c.1933G>A" "" "Unknown" "" "" "0" "" "" "g.94062581C>T" "" "VUS" ""
"0000770228" "0" "70" "1" "94485242" "94485242" "subst" "0" "01695" "ABCA4_001283" "g.94485242C>A" "" "{PMID:Hu 2019:31543898}" "" "c.5092G>T" "" "Unknown" "" "" "0" "" "" "g.94019686C>A" "" "likely pathogenic (recessive)" ""
"0000770229" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Hu 2019:31543898}" "" "c.5882G>A" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000770230" "0" "50" "1" "94474381" "94474381" "subst" "1.21849E-5" "01695" "ABCA4_000410" "g.94474381C>T" "" "{PMID:Hu 2019:31543898}" "" "c.5761G>A" "" "Unknown" "" "" "0" "" "" "g.94008825C>T" "" "VUS" ""
"0000770231" "3" "70" "1" "94577010" "94577010" "subst" "1.22004E-5" "01695" "ABCA4_000224" "g.94577010T>C" "" "{PMID:Hu 2019:31543898}" "" "c.286A>G" "" "Unknown" "" "" "0" "" "" "g.94111454T>C" "" "likely pathogenic (recessive)" ""
"0000770232" "0" "70" "1" "94476424" "94476424" "subst" "2.43694E-5" "01695" "ABCA4_000418" "g.94476424C>T" "" "{PMID:Hu 2019:31543898}" "" "c.5646G>A" "" "Unknown" "" "" "0" "" "" "g.94010868C>T" "" "likely pathogenic (recessive)" ""
"0000770233" "0" "50" "1" "94467506" "94467506" "subst" "3.24913E-5" "01695" "ABCA4_000785" "g.94467506C>T" "" "{PMID:Hu 2019:31543898}" "" "c.6190G>A" "" "Unknown" "" "" "0" "" "" "g.94001950C>T" "" "VUS" ""
"0000770234" "3" "70" "1" "94502880" "94502880" "subst" "0" "01695" "ABCA4_001293" "g.94502880C>A" "" "{PMID:Hu 2019:31543898}" "" "c.3634G>T" "" "Unknown" "" "" "0" "" "" "g.94037324C>A" "" "likely pathogenic (recessive)" ""
"0000770235" "3" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Hu 2019:31543898}" "" "c.5714+5G>A" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000770236" "0" "90" "1" "94463452" "94463452" "subst" "0" "01695" "ABCA4_001274" "g.94463452C>A" "" "{PMID:Hu 2019:31543898}" "" "c.6694G>T" "" "Unknown" "" "" "0" "" "" "g.93997896C>A" "" "pathogenic (recessive)" ""
"0000770237" "0" "70" "1" "94526271" "94526271" "subst" "0" "01695" "ABCA4_001309" "g.94526271A>C" "" "{PMID:Hu 2019:31543898}" "" "c.1982T>G" "" "Unknown" "" "" "0" "" "" "g.94060715A>C" "" "likely pathogenic (recessive)" ""
"0000770238" "0" "70" "1" "94528178" "94528178" "subst" "4.06666E-6" "01695" "ABCA4_001312" "g.94528178C>A" "" "{PMID:Hu 2019:31543898}" "" "c.1892G>T" "" "Unknown" "" "" "0" "" "" "g.94062622C>A" "" "likely pathogenic (recessive)" ""
"0000770239" "0" "70" "1" "94471032" "94471032" "subst" "1.62553E-5" "01695" "ABCA4_000792" "g.94471032G>A" "" "{PMID:Hu 2019:31543898}" "" "c.6112C>T" "" "Unknown" "" "" "0" "" "" "g.94005476G>A" "" "likely pathogenic (recessive)" ""
"0000770240" "0" "70" "1" "94463583" "94463583" "subst" "8.12183E-6" "01695" "ABCA4_000806" "g.94463583A>G" "" "{PMID:Hu 2019:31543898}" "" "c.6563T>C" "" "Unknown" "" "" "0" "" "" "g.93998027A>G" "" "likely pathogenic (recessive)" ""
"0000770241" "0" "90" "1" "94471026" "94471026" "subst" "1.21925E-5" "01695" "ABCA4_000791" "g.94471026G>A" "" "{PMID:Hu 2019:31543898}" "" "c.6118C>T" "" "Unknown" "" "" "0" "" "" "g.94005470G>A" "" "pathogenic (recessive)" ""
"0000770242" "0" "50" "1" "94502737" "94502737" "subst" "0" "01695" "ABCA4_001292" "g.94502737G>C" "" "{PMID:Hu 2019:31543898}" "" "c.3777C>G" "" "Unknown" "" "" "0" "" "" "g.94037181G>C" "" "VUS" ""
"0000770243" "0" "90" "1" "94473263" "94473263" "del" "0" "01695" "ABCA4_000388" "g.94473263del" "" "{PMID:Hu 2019:31543898}" "" "c.5935delA" "" "Unknown" "" "" "0" "" "" "g.94007707del" "" "pathogenic (recessive)" ""
"0000770244" "3" "90" "1" "94546116" "94546116" "subst" "0" "01695" "ABCA4_001319" "g.94546116C>T" "" "{PMID:Hu 2019:31543898}" "" "c.1017G>A" "" "Unknown" "" "" "0" "" "" "g.94080560C>T" "" "pathogenic (recessive)" ""
"0000770245" "0" "90" "1" "94466658" "94466658" "subst" "8.14817E-6" "01695" "ABCA4_000132" "g.94466658C>T" "" "{PMID:Hu 2019:31543898}" "" "c.6286G>A" "" "Unknown" "" "" "0" "" "" "g.94001102C>T" "" "pathogenic (recessive)" ""
"0000770246" "0" "70" "1" "94471032" "94471032" "subst" "1.62553E-5" "01695" "ABCA4_000792" "g.94471032G>A" "" "{PMID:Hu 2019:31543898}" "" "c.6112C>T" "" "Unknown" "" "" "0" "" "" "g.94005476G>A" "" "likely pathogenic (recessive)" ""
"0000770247" "0" "70" "1" "94509027" "94509027" "subst" "4.06478E-6" "01695" "ABCA4_000661" "g.94509027T>C" "" "{PMID:Hu 2019:31543898}" "" "c.3055A>G" "" "Unknown" "" "" "0" "" "" "g.94043471T>C" "" "likely pathogenic (recessive)" ""
"0000770248" "0" "90" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Hu 2019:31543898}" "" "c.2894A>G" "" "Unknown" "" "" "0" "" "" "g.94046943T>C" "" "pathogenic (recessive)" ""
"0000770249" "0" "90" "1" "94528251" "94528251" "subst" "2.84824E-5" "01695" "ABCA4_000281" "g.94528251C>T" "" "{PMID:Hu 2019:31543898}" "" "c.1819G>A" "" "Unknown" "" "" "0" "" "" "g.94062695C>T" "" "pathogenic (recessive)" ""
"0000770250" "0" "90" "1" "94543419" "94543420" "del" "0" "01695" "ABCA4_001314" "g.94543419_94543420del" "" "{PMID:Hu 2019:31543898}" "" "c.1382_1383delAA" "" "Unknown" "" "" "0" "" "" "g.94077863_94077864del" "" "pathogenic (recessive)" ""
"0000770251" "3" "50" "1" "94576998" "94576998" "subst" "0" "01695" "ABCA4_000222" "g.94576998A>G" "" "{PMID:Hu 2019:31543898}" "" "c.298T>C" "" "Unknown" "" "" "0" "" "" "g.94111442A>G" "" "VUS" ""
"0000770252" "0" "70" "1" "94496020" "94496020" "subst" "0" "01695" "ABCA4_001289" "g.94496020C>A" "" "{PMID:Hu 2019:31543898}" "" "c.4316G>T" "" "Unknown" "" "" "0" "" "" "g.94030464C>A" "" "likely pathogenic (recessive)" ""
"0000770253" "0" "70" "1" "94490534" "94490534" "subst" "0.000125895" "01695" "ABCA4_000520" "g.94490534G>A" "" "{PMID:Hu 2019:31543898}" "" "c.4610C>T" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94024978G>A" "" "likely pathogenic (recessive)" ""
"0000770254" "0" "70" "1" "94461693" "94461693" "subst" "0" "01695" "ABCA4_000861" "g.94461693C>A" "" "{PMID:Hu 2019:31543898}" "" "c.6788G>T" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.93996137C>A" "" "likely pathogenic (recessive)" ""
"0000770255" "0" "50" "1" "94466655" "94466655" "subst" "0" "01695" "ABCA4_000842" "g.94466655G>A" "" "{PMID:Hu 2019:31543898}" "" "c.6289C>T" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94001099G>A" "" "VUS" ""
"0000770256" "0" "70" "1" "94473280" "94473280" "subst" "0" "01695" "ABCA4_001278" "g.94473280C>T" "" "{PMID:Hu 2019:31543898}" "" "c.5915G>A" "" "Unknown" "" "" "0" "" "" "g.94007724C>T" "" "likely pathogenic (recessive)" ""
"0000770257" "0" "70" "1" "94544888" "94544888" "subst" "0" "01695" "ABCA4_001317" "g.94544888A>G" "" "{PMID:Hu 2019:31543898}" "" "c.1229T>C" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94079332A>G" "" "likely pathogenic (recessive)" ""
"0000770258" "0" "50" "1" "94543278" "94543278" "subst" "0.000178952" "01695" "ABCA4_000004" "g.94543278G>A" "" "{PMID:Hu 2019:31543898}" "" "c.1522C>T" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94077722G>A" "" "VUS" ""
"0000770259" "0" "90" "1" "94522362" "94522362" "del" "0" "01695" "ABCA4_001307" "g.94522362del" "" "{PMID:Hu 2019:31543898}" "" "c.2177delA" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94056806del" "" "pathogenic (recessive)" ""
"0000770260" "0" "70" "1" "94522278" "94522278" "subst" "0" "01695" "ABCA4_001306" "g.94522278A>G" "" "{PMID:Hu 2019:31543898}" "" "c.2261T>C" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94056722A>G" "" "likely pathogenic (recessive)" ""
"0000770261" "0" "90" "1" "94512619" "94512619" "subst" "0" "01695" "ABCA4_001305" "g.94512619C>T" "" "{PMID:Hu 2019:31543898}" "" "c.2774G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94047063C>T" "" "pathogenic (recessive)" ""
"0000770262" "0" "70" "1" "94508993" "94508993" "subst" "0" "01695" "ABCA4_001301" "g.94508993A>C" "" "{PMID:Hu 2019:31543898}" "" "c.3089T>G" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94043437A>C" "" "likely pathogenic (recessive)" ""
"0000770263" "0" "90" "1" "94508433" "94508433" "subst" "0" "01695" "ABCA4_001300" "g.94508433G>T" "" "{PMID:Hu 2019:31543898}" "" "c.3212C>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94042877G>T" "" "pathogenic (recessive)" ""
"0000770264" "0" "70" "1" "94508322" "94508322" "subst" "1.62513E-5" "01695" "ABCA4_000128" "g.94508322C>T" "" "{PMID:Hu 2019:31543898}" "" "c.3323G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94042766C>T" "" "likely pathogenic (recessive)" ""
"0000770265" "0" "70" "1" "94506805" "94506805" "subst" "2.03051E-5" "01695" "ABCA4_001294" "g.94506805C>T" "" "{PMID:Hu 2019:31543898}" "" "c.3482G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94041249C>T" "" "likely pathogenic (recessive)" ""
"0000770266" "0" "90" "1" "94506764" "94506764" "subst" "0" "01695" "ABCA4_001173" "g.94506764C>T" "" "{PMID:Hu 2019:31543898}" "" "c.3522+1G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94041208C>T" "" "pathogenic (recessive)" ""
"0000770267" "0" "70" "1" "94502880" "94502880" "subst" "0" "01695" "ABCA4_001293" "g.94502880C>A" "" "{PMID:Hu 2019:31543898}" "" "c.3634G>T" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94037324C>A" "" "likely pathogenic (recessive)" ""
"0000770268" "0" "70" "1" "94496547" "94496547" "subst" "1.21904E-5" "01695" "ABCA4_000560" "g.94496547C>T" "" "{PMID:Hu 2019:31543898}" "" "c.4253+5G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94030991C>T" "" "likely pathogenic (recessive)" ""
"0000770269" "0" "70" "1" "94496548" "94496548" "subst" "2.43787E-5" "01695" "ABCA4_000088" "g.94496548G>A" "" "{PMID:Hu 2019:31543898}" "" "c.4253+4C>T" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94030992G>A" "" "likely pathogenic (recessive)" ""
"0000770270" "0" "90" "1" "94495157" "94495157" "subst" "0" "01695" "ABCA4_000545" "g.94495157C>T" "" "{PMID:Hu 2019:31543898}" "" "c.4383G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94029601C>T" "" "pathogenic (recessive)" ""
"0000770271" "0" "90" "1" "94490585" "94490585" "del" "0" "01695" "ABCA4_001287" "g.94490585del" "" "{PMID:Hu 2019:31543898}" "" "c.4561delA" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94025029del" "" "pathogenic (recessive)" ""
"0000770272" "0" "90" "1" "94486961" "94486961" "subst" "0" "01695" "ABCA4_001286" "g.94486961C>T" "" "{PMID:Hu 2019:31543898}" "" "c.4853G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94021405C>T" "" "pathogenic (recessive)" ""
"0000770273" "0" "70" "1" "94486959" "94486959" "subst" "0" "01695" "ABCA4_001285" "g.94486959A>G" "" "{PMID:Hu 2019:31543898}" "" "c.4855T>C" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94021403A>G" "" "likely pathogenic (recessive)" ""
"0000770274" "0" "90" "1" "94485234" "94485234" "subst" "0" "01695" "ABCA4_001282" "g.94485234A>C" "" "{PMID:Hu 2019:31543898}" "" "c.5100T>G" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94019678A>C" "" "pathogenic (recessive)" ""
"0000770275" "0" "70" "1" "94480095" "94480095" "subst" "4.06095E-6" "01695" "ABCA4_001281" "g.94480095T>A" "" "{PMID:Hu 2019:31543898}" "" "c.5460+4A>T" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94014539T>A" "" "likely pathogenic (recessive)" ""
"0000770276" "0" "70" "1" "94476875" "94476875" "subst" "1.62489E-5" "01695" "ABCA4_001280" "g.94476875G>A" "" "{PMID:Hu 2019:31543898}" "" "c.5527C>T" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94011319G>A" "" "likely pathogenic (recessive)" ""
"0000770277" "0" "70" "1" "94473280" "94473280" "subst" "0" "01695" "ABCA4_001278" "g.94473280C>T" "" "{PMID:Hu 2019:31543898}" "" "c.5915G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94007724C>T" "" "likely pathogenic (recessive)" ""
"0000770278" "0" "90" "1" "94467550" "94467550" "subst" "0" "01695" "ABCA4_001277" "g.94467550T>A" "" "{PMID:Hu 2019:31543898}" "" "c.6148-2A>T" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94001994T>A" "" "pathogenic (recessive)" ""
"0000770279" "0" "90" "1" "94467413" "94467413" "subst" "0" "01695" "ABCA4_001276" "g.94467413C>T" "" "{PMID:Hu 2019:31543898}" "" "c.6282+1G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94001857C>T" "" "pathogenic (recessive)" ""
"0000770280" "0" "90" "1" "94466658" "94466658" "subst" "8.14817E-6" "01695" "ABCA4_000132" "g.94466658C>T" "" "{PMID:Hu 2019:31543898}" "" "c.6286G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94001102C>T" "" "pathogenic (recessive)" ""
"0000770281" "0" "90" "1" "94466426" "94466426" "subst" "1.62433E-5" "01695" "ABCA4_000124" "g.94466426G>A" "" "{PMID:Hu 2019:31543898}" "" "c.6445C>T" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94000870G>A" "" "pathogenic (recessive)" ""
"0000770282" "0" "90" "1" "94463521" "94463521" "subst" "0" "01695" "ABCA4_001272" "g.94463521G>A" "" "{PMID:Hu 2019:31543898}" "" "c.6625C>T" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.93997965G>A" "" "pathogenic (recessive)" ""
"0000770283" "21" "90" "1" "94568588" "94568588" "subst" "0" "01695" "ABCA4_002200" "g.94568588G>A" "" "{PMID:Hu 2019:31543898}" "" "p.Q185X" "" "Unknown" "yes" "" "0" "" "" "g.94103032G>A" "" "pathogenic (recessive)" ""
"0000770284" "21" "90" "1" "94568588" "94568588" "subst" "0" "01695" "ABCA4_002200" "g.94568588G>A" "" "{PMID:Hu 2019:31543898}" "" "p.Q185X" "" "Unknown" "yes" "" "0" "" "" "g.94103032G>A" "" "pathogenic (recessive)" ""
"0000770285" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Piccardi 2019:31618812}" "" "c.5882G>A; p.Gly1961glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000770286" "0" "10" "1" "94505604" "94505604" "subst" "0.00645586" "01695" "ABCA4_000092" "g.94505604A>C" "" "{PMID:Piccardi 2019:31618812}" "" "c.3602T>G; p.Leu1201Arg" "" "Unknown" "" "" "0" "" "" "g.94040048A>C" "" "benign" ""
"0000770287" "0" "70" "1" "94487251" "94487251" "subst" "2.85679E-5" "01695" "ABCA4_000490" "g.94487251G>T" "" "{PMID:Piccardi 2019:31618812}" "" "c.4793C>AAla1598Asp" "" "Unknown" "" "" "0" "" "" "g.94021695G>T" "" "likely pathogenic (recessive)" ""
"0000770288" "0" "90" "1" "94526154" "94526154" "subst" "4.06441E-6" "01695" "ABCA4_000752" "g.94526154C>T" "" "{PMID:Piccardi 2019:31618812}" "" "c.2099G>A; p.W700X" "" "Unknown" "" "" "0" "" "" "g.94060598C>T" "" "pathogenic (recessive)" ""
"0000770289" "0" "50" "1" "94514477" "94514477" "subst" "0.00118992" "01695" "ABCA4_000700" "g.94514477G>A" "" "{PMID:Piccardi 2019:31618812}" "" "c.2690C>T; p.Thr897Ile" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94048921G>A" "" "VUS" ""
"0000770290" "0" "90" "1" "94486794" "94486794" "subst" "0" "01695" "ABCA4_000478" "g.94486794A>G" "" "{PMID:Piccardi 2019:31618812}" "" "IVS35+2t>c" "" "Unknown" "" "" "0" "" "" "g.94021238A>G" "" "pathogenic (recessive)" ""
"0000770291" "0" "50" "1" "94514477" "94514477" "subst" "0.00118992" "01695" "ABCA4_000700" "g.94514477G>A" "" "{PMID:Piccardi 2019:31618812}" "" "c.2690C>T; p.Thr897Ile" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94048921G>A" "" "VUS" ""
"0000770292" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Piccardi 2019:31618812}" "" "c.4139C>T;Pro1380Leu" "" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000770293" "0" "90" "1" "94586541" "94586541" "subst" "4.0624E-6" "01695" "ABCA4_000256" "g.94586541G>A" "" "{PMID:Piccardi 2019:31618812}" "" "c.61C>T; p.Gln21Ter" "" "Unknown" "" "" "0" "" "" "g.94120985G>A" "" "pathogenic (recessive)" ""
"0000770294" "0" "70" "1" "94520793" "94520793" "subst" "8.13292E-6" "01695" "ABCA4_000723" "g.94520793A>T" "" "{PMID:Piccardi 2019:31618812}" "" "c.2461T>A; p.Trp821Arg" "" "Unknown" "" "" "0" "" "" "g.94055237A>T" "" "likely pathogenic (recessive)" ""
"0000770295" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Piccardi 2019:31618812}" "" "C768G>T; p.Val256splice" "" "Unknown" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000770296" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Piccardi 2019:31618812}" "" "5714+5G-A" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000770297" "0" "70" "1" "94510290" "94510290" "subst" "0" "01695" "ABCA4_000672" "g.94510290T>G" "" "{PMID:Piccardi 2019:31618812}" "" "Thr977Pro" "" "Unknown" "" "" "0" "" "" "g.94044734T>G" "" "likely pathogenic (recessive)" ""
"0000770298" "0" "50" "1" "94485269" "94485269" "subst" "0" "01695" "ABCA4_000146" "g.94485269A>G" "" "{PMID:Piccardi 2019:31618812}" "" "c.5065T>C; p.S1689P" "" "Unknown" "" "" "0" "" "" "g.94019713A>G" "" "VUS" ""
"0000770299" "0" "90" "1" "94487464" "94487464" "del" "0" "01695" "ABCA4_001763" "g.94487464del" "" "{PMID:Piccardi 2019:31618812}" "" "4709-4711delA" "" "Unknown" "" "" "0" "" "" "g.94021908del" "" "pathogenic (recessive)" ""
"0000770300" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Piccardi 2019:31618812}" "" "G1961e" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000770301" "0" "50" "1" "94568686" "94568686" "subst" "0.00258122" "01695" "ABCA4_000212" "g.94568686C>T" "" "{PMID:Piccardi 2019:31618812}" "" "R152Q" "" "Unknown" "" "" "0" "" "" "g.94103130C>T" "" "VUS" ""
"0000770302" "0" "90" "1" "94496605" "94496605" "subst" "0" "01695" "ABCA4_000570" "g.94496605G>T" "" "{PMID:Piccardi 2019:31618812}" "" "c.4200C>A;p.Tyr1400X" "" "Unknown" "" "" "0" "" "" "g.94031049G>T" "" "pathogenic (recessive)" ""
"0000770303" "0" "70" "1" "94586550" "94586550" "subst" "1.21864E-5" "01695" "ABCA4_000037" "g.94586550G>A" "" "{PMID:Piccardi 2019:31618812}" "" "R18W" "" "Unknown" "" "" "0" "" "" "g.94120994G>A" "" "likely pathogenic (recessive)" ""
"0000770304" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Piccardi 2019:31618812}" "" "c.5882G>A;p.Gly1691Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000770305" "0" "50" "1" "94512602" "94512602" "subst" "0.000369717" "01695" "ABCA4_000052" "g.94512602C>T" "" "{PMID:Piccardi 2019:31618812}" "" "c.2791G>A;p.Val931Met" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94047046C>T" "" "VUS" ""
"0000770306" "0" "90" "1" "94486794" "94486794" "subst" "0" "01695" "ABCA4_000478" "g.94486794A>G" "" "{PMID:Piccardi 2019:31618812}" "" "IVS35+2t>c" "" "Unknown" "" "" "0" "" "" "g.94021238A>G" "" "pathogenic (recessive)" ""
"0000770307" "0" "70" "1" "94586550" "94586550" "subst" "1.21864E-5" "01695" "ABCA4_000037" "g.94586550G>A" "" "{PMID:Piccardi 2019:31618812}" "" "c.52C>T; p.Arg18Trp" "" "Unknown" "" "" "0" "" "" "g.94120994G>A" "" "likely pathogenic (recessive)" ""
"0000770308" "0" "90" "1" "94528132" "94528132" "subst" "4.06835E-6" "01695" "ABCA4_000773" "g.94528132C>T" "" "{PMID:Piccardi 2019:31618812}" "" "Ivs13+1g>a" "" "Unknown" "" "" "0" "" "" "g.94062576C>T" "" "pathogenic (recessive)" ""
"0000770309" "0" "70" "1" "94508322" "94508322" "subst" "1.62513E-5" "01695" "ABCA4_000128" "g.94508322C>T" "" "{PMID:Piccardi 2019:31618812}" "" "c.3323G>A;p.Arg1018His" "" "Unknown" "" "" "0" "" "" "g.94042766C>T" "" "likely pathogenic (recessive)" ""
"0000770310" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Piccardi 2019:31618812}" "" "GlY1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000770311" "0" "70" "1" "94520705" "94520705" "subst" "0" "01695" "ABCA4_000714" "g.94520705T>C" "" "{PMID:Piccardi 2019:31618812}" "" "c.2549>G;P.Tyr850Cys" "" "Unknown" "" "" "0" "" "" "g.94055149T>C" "" "likely pathogenic (recessive)" ""
"0000770312" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Piccardi 2019:31618812}" "" "c.1622T>C; p.Leu541Pro" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000770313" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Piccardi 2019:31618812}" "" "c.1622T>C; p.Leu541Pro" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000770314" "3" "70" "1" "94526295" "94526295" "subst" "3.69731E-5" "01695" "ABCA4_000114" "g.94526295C>T" "" "{PMID:Piccardi 2019:31618812}" "" "Arg653His" "" "Unknown" "" "" "0" "" "" "g.94060739C>T" "" "likely pathogenic (recessive)" ""
"0000770315" "3" "70" "1" "94526295" "94526295" "subst" "3.69731E-5" "01695" "ABCA4_000114" "g.94526295C>T" "" "{PMID:Piccardi 2019:31618812}" "" "Arg653His" "" "Unknown" "" "" "0" "" "" "g.94060739C>T" "" "likely pathogenic (recessive)" ""
"0000770316" "0" "90" "1" "94487455" "94487455" "subst" "4.06128E-6" "01695" "ABCA4_000504" "g.94487455C>A" "" "{PMID:Dan 2019:31674661}" "" "c.4720G>T p.(Glu1574*)" "" "Unknown" "" "" "0" "" "" "g.94021899C>A" "" "pathogenic (recessive)" ""
"0000770317" "21" "70" "1" "94490567" "94490567" "subst" "5.68528E-5" "01695" "ABCA4_000026" "g.94490567G>A" "" "{PMID:Dan 2019:31674661}" "" "c.4577C>T p.(Thr1526Met)" "" "Unknown" "" "" "0" "" "" "g.94025011G>A" "" "likely pathogenic (recessive)" ""
"0000770318" "21" "90" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Dan 2019:31674661}" "" "c.2894A>G p.(Asn965*)" "" "Unknown" "" "" "0" "" "" "g.94046943T>C" "" "pathogenic (recessive)" ""
"0000770319" "11" "90" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Dan 2019:31674661}" "" "c.2894A>G p.(Asn965*)" "" "Unknown" "" "" "0" "" "" "g.94046943T>C" "" "pathogenic (recessive)" ""
"0000770320" "0" "90" "1" "94528311" "94528311" "subst" "0" "01695" "ABCA4_001138" "g.94528311T>C" "" "{PMID:Dan 2019:31674661}" "" "c.1761-2A>G" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94062755T>C" "" "pathogenic (recessive)" ""
"0000770321" "21" "90" "1" "94528868" "94528868" "del" "0" "01695" "ABCA4_000304" "g.94528868del" "" "{PMID:Dan 2019:31674661}" "" "c.1561delG p.(Val521fs46)" "" "Unknown" "" "" "0" "" "" "g.94063312del" "" "pathogenic (recessive)" ""
"0000770322" "21" "90" "1" "94471026" "94471026" "subst" "1.21925E-5" "01695" "ABCA4_000791" "g.94471026G>A" "" "{PMID:Dan 2019:31674661}" "" "c.6118C>T p.(Arg2040*)" "" "Unknown" "" "" "0" "" "" "g.94005470G>A" "" "pathogenic (recessive)" ""
"0000770323" "3" "50" "1" "94578589" "94578594" "del" "0" "01695" "ABCA4_000249" "g.94578589_94578594del" "" "{PMID:Dan 2019:31674661}" "" "c.101_106delCTTTAT p.(Ser34_Leu35del)" "" "Unknown" "" "" "0" "" "" "g.94113033_94113038del" "" "VUS" ""
"0000770324" "11" "90" "1" "94495111" "94495111" "subst" "0" "01695" "ABCA4_001248" "g.94495111G>A" "" "{PMID:Dan 2019:31674661}" "" "c.4429C>T p.(Gln1477*)" "" "Unknown" "" "" "0" "" "" "g.94029555G>A" "" "pathogenic (recessive)" ""
"0000770325" "11" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Lee 2019:31576780}" "" "" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000770326" "3" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Khan 2019:31725702}" "" "c.5882G.A (p.Gly1961Glu)/c.2570T (p.Leu857Pro)" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000770327" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Khan 2019:31725702}" "" "c.5882G.A (p.Gly1961Glu)" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000770328" "3" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Khan 2019:31725702}" "" "c.5882G.A (p.Gly1961Glu)/c.2570T (p.Leu857Pro)" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000770329" "3" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Khan 2019:31725702}" "" "c.5882G.A (p.Gly1961Glu)/c.2570T (p.Leu857Pro)" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000770330" "3" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Khan 2019:31725702}" "" "c.5882G.A (p.Gly1961Glu)/c.2570T (p.Leu857Pro)" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000770331" "3" "70" "1" "94502891" "94502891" "subst" "0" "01695" "ABCA4_001882" "g.94502891A>C" "" "{PMID:Khan 2019:31725702}" "" "c.3623T.G (p.Leu1208Arg)" "" "Unknown" "" "" "0" "" "" "g.94037335A>C" "" "likely pathogenic (recessive)" ""
"0000770332" "3" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Khan 2019:31725702}" "" "c.5882G.A (p.Gly1961Glu)/c.2570T (p.Leu857Pro)" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000770333" "3" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Khan 2019:31725702}" "" "c.5882G.A (p.Gly1961Glu)/c.2570T (p.Leu857Pro)" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000770334" "3" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Khan 2019:31725702}" "" "c.5882G.A (p.Gly1961Glu)/c.2570T (p.Leu857Pro)" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000770335" "3" "90" "1" "94490577" "94490577" "subst" "0" "01695" "ABCA4_001791" "g.94490577G>A" "" "{PMID:Khan 2019:31725702}" "" "c.4567C.T (p.Gln1523*)" "" "Unknown" "" "" "0" "" "" "g.94025021G>A" "" "pathogenic (recessive)" ""
"0000770336" "3" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Khan 2019:31725702}" "" "c.5882G.A (p.Gly1961Glu)/c.2570T (p.Leu857Pro)" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000770337" "3" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Khan 2019:31725702}" "" "c.5882G.A (p.Gly1961Glu)/c.2570T (p.Leu857Pro)" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000770338" "3" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Khan 2019:31725702}" "" "c.5882G.A (p.Gly1961Glu)/c.2570T (p.Leu857Pro)" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000770339" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Khan 2019:31725702}" "" "c.5882G.A (p.Gly1961Glu)" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000770340" "0" "70" "1" "94506904" "94506904" "subst" "0" "01695" "ABCA4_001176" "g.94506904T>C" "" "{PMID:Zenteno 2019:31736247}" "" "c.3383A>G p.Asp1128Gly" "" "Unknown" "" "" "0" "" "" "g.94041348T>C" "" "likely pathogenic (recessive)" ""
"0000770341" "3" "50" "1" "94467548" "94467548" "subst" "0.00295661" "01695" "ABCA4_000788" "g.94467548C>G" "" "{PMID:Zenteno 2019:31736247}" "" "c.6148G>C p.Val2050Leu" "" "Unknown" "" "" "0" "" "" "g.94001992C>G" "" "VUS" ""
"0000770342" "0" "70" "1" "94474323" "94474323" "subst" "2.03034E-5" "01695" "ABCA4_000156" "g.94474323A>G" "" "{PMID:Zenteno 2019:31736247}" "" "c.5819T>C p.Leu1940Pro" "" "Unknown" "" "" "0" "" "" "g.94008767A>G" "" "likely pathogenic (recessive)" ""
"0000770343" "0" "70" "1" "94467475" "94467475" "subst" "3.65542E-5" "01695" "ABCA4_000171" "g.94467475C>A" "" "{PMID:Zenteno 2019:31736247}" "" "c.6221G>T p.Gly2074Val" "" "Unknown" "" "" "0" "" "" "g.94001919C>A" "" "likely pathogenic (recessive)" ""
"0000770344" "3" "70" "1" "94486895" "94486895" "subst" "3.24923E-5" "01695" "ABCA4_000484" "g.94486895C>T" "" "{PMID:Zenteno 2019:31736247}" "" "c.4919G>A p.Arg1640Gln" "" "Unknown" "" "" "0" "" "" "g.94021339C>T" "" "likely pathogenic (recessive)" ""
"0000770345" "0" "90" "1" "94543380" "94543383" "dup" "0" "01695" "ABCA4_001187" "g.94543380_94543383dup" "" "{PMID:Zenteno 2019:31736247}" "" "c.1417_1420dupATTA p.Thr474AsnfsTer4" "" "Unknown" "" "" "0" "" "" "g.94077824_94077827dup" "" "pathogenic (recessive)" ""
"0000770408" "0" "90" "1" "94526212" "94526212" "subst" "1.22012E-5" "01695" "ABCA4_000075" "g.94526212G>A" "" "{PMID:Reich 2019:31799409}" "" "c.2041C>T (p.Arg681Xaa" "" "Unknown" "" "" "0" "" "" "g.94060656G>A" "" "pathogenic (recessive)" ""
"0000770409" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Reich 2019:31799409}" "" "c.1622T>C (p.Leu541Pro) c.3113C>T (p.Ala1038Val)" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000770410" "0" "70" "1" "94495078" "94495078" "subst" "8.37044E-6" "01695" "ABCA4_000042" "g.94495078A>G" "" "{PMID:Reich 2019:31799409}{PMID:Reich 2020:33185728}" "" "c.4462T>C (p.Cys1488Arg)" "" "Unknown" "" "" "0" "" "" "g.94029522A>G" "" "likely pathogenic (recessive)" ""
"0000770411" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Reich 2019:31799409}" "" "c.2588G>C (p.Gly863Ala," "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000770412" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Reich 2019:31799409}" "" "c.5461-10T>C" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000770413" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Reich 2019:31799409}{PMID:Reich 2020:33185728}" "" "c.3322C>T (p.Arg1108Cys)" "" "Unknown" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000770414" "0" "90" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Reich 2019:31799409}{PMID:Reich 2020:33185728}" "" "c.2894A>G (p.Asn965Ser)" "" "Unknown" "" "" "0" "" "" "g.94046943T>C" "" "pathogenic (recessive)" ""
"0000770415" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Reich 2019:31799409}" "" "c.2588G>C (p.Gly863Ala)" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000770416" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Reich 2019:31799409}{PMID:Reich 2020:33185728}" "" "c.3322C>T (p.Arg1108Cys)" "" "Unknown" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000770417" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Reich 2019:31799409}{PMID:Reich 2020:33185728}" "" "c.5882G>A (p.Gly1961Glu)" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000770418" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Reich 2019:31799409}{PMID:Reich 2020:33185728}" "" "c.2588G>C (p.Gly863Ala," "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000770419" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Reich 2019:31799409}" "" "c.1622T>C (p.Leu541Pro)" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000770420" "0" "50" "1" "94480146" "94480146" "subst" "2.84273E-5" "01695" "ABCA4_000122" "g.94480146T>C" "" "{PMID:Reich 2019:31799409}{PMID:Reich 2020:33185728}" "" "c.5413A>G (p.Asn1805Asp)" "" "Unknown" "" "" "0" "" "" "g.94014590T>C" "" "VUS" ""
"0000770421" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Reich 2019:31799409}{PMID:Reich 2020:33185728}" "" "c.5882G>A (p.Gly1961Glu)" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000770422" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Reich 2019:31799409}" "" "c.1622T>C (p.Leu541Pro)" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000770423" "0" "90" "1" "94514475" "94514475" "subst" "0" "01695" "ABCA4_001995" "g.94514475C>A" "" "{PMID:Reich 2019:31799409}" "" "c.2692G>T (p.Glu898Xaa)" "" "Unknown" "" "" "0" "" "" "g.94048919C>A" "" "pathogenic (recessive)" ""
"0000770424" "0" "70" "1" "94490534" "94490534" "subst" "0.000125895" "01695" "ABCA4_000520" "g.94490534G>A" "" "{PMID:Reich 2019:31799409}" "" "c.4610C>T" "" "Unknown" "" "" "0" "" "" "g.94024978G>A" "" "likely pathogenic (recessive)" ""
"0000770425" "0" "70" "1" "94510287" "94510287" "subst" "0" "01695" "ABCA4_001467" "g.94510287C>T" "" "{PMID:Reich 2019:31799409}{PMID:Reich 2020:33185728}" "" "c.2931G>A (p.Gly978Ser)" "" "Unknown" "" "" "0" "" "" "g.94044731C>T" "" "likely pathogenic (recessive)" ""
"0000770426" "0" "90" "1" "94485136" "94485136" "subst" "0" "01695" "ABCA4_000189" "g.94485136A>G" "" "{PMID:Reich 2019:31799409}{PMID:Reich 2020:33185728}" "" "c.5196+2T>C" "" "Unknown" "" "" "0" "" "" "g.94019580A>G" "" "pathogenic (recessive)" ""
"0000770427" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Reich 2019:31799409}{PMID:Reich 2020:33185728}" "" "c.2588G>C (p.Gly863Ala," "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000770428" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Reich 2019:31799409}{PMID:Reich 2020:33185728}" "" "c.2588G>C (p.Gly863Ala," "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000770429" "0" "90" "1" "94485136" "94485136" "subst" "0" "01695" "ABCA4_000189" "g.94485136A>G" "" "{PMID:Reich 2019:31799409}{PMID:Reich 2020:33185728}" "" "c.5196+2T>C (Splice)" "" "Unknown" "" "" "0" "" "" "g.94019580A>G" "" "pathogenic (recessive)" ""
"0000770430" "0" "90" "1" "94485136" "94485136" "subst" "0" "01695" "ABCA4_000189" "g.94485136A>G" "" "{PMID:Reich 2019:31799409}{PMID:Reich 2020:33185728}" "" "c.5196+2T>C (Splice)" "" "Unknown" "" "" "0" "" "" "g.94019580A>G" "" "pathogenic (recessive)" ""
"0000770431" "0" "90" "1" "94471001" "94471001" "del" "0" "01695" "ABCA4_001337" "g.94471001del" "" "{PMID:Joo 2019:31814693}" "" "c.6146delA" "" "Unknown" "" "" "0" "" "" "g.94005445del" "" "pathogenic (recessive)" ""
"0000770432" "0" "90" "1" "94471001" "94471001" "del" "0" "01695" "ABCA4_001337" "g.94471001del" "" "{PMID:Joo 2019:31814693}" "" "c.6146delA" "" "Unknown" "" "" "0" "" "" "g.94005445del" "" "pathogenic (recessive)" ""
"0000770433" "0" "70" "1" "94487413" "94487413" "subst" "0" "01695" "ABCA4_001338" "g.94487413T>A" "" "{PMID:Joo 2019:31814693}" "" "c.4762A>T" "" "Unknown" "" "" "0" "" "" "g.94021857T>A" "" "likely pathogenic (recessive)" ""
"0000770434" "0" "70" "1" "94506867" "94506867" "subst" "0" "01695" "ABCA4_001296" "g.94506867G>C" "" "{PMID:Joo 2019:31814693}" "" "c.3420C>G c.3342_3344delCAT" "" "Unknown" "" "" "0" "" "" "g.94041311G>C" "" "likely pathogenic (recessive)" ""
"0000770435" "0" "70" "1" "94506867" "94506867" "subst" "0" "01695" "ABCA4_001296" "g.94506867G>C" "" "{PMID:Joo 2019:31814693}" "" "c.3420C>G" "" "Unknown" "" "" "0" "" "" "g.94041311G>C" "" "likely pathogenic (recessive)" ""
"0000770436" "0" "90" "1" "94506817" "94506817" "subst" "0" "01695" "ABCA4_001342" "g.94506817A>C" "" "{PMID:Joo 2019:31814693}" "" "c.3470T>G" "" "Unknown" "" "" "0" "" "" "g.94041261A>C" "" "pathogenic (recessive)" ""
"0000770437" "0" "70" "1" "94487413" "94487413" "subst" "0" "01695" "ABCA4_001338" "g.94487413T>A" "" "{PMID:Joo 2019:31814693}" "" "c.4762A>T" "" "Unknown" "" "" "0" "" "" "g.94021857T>A" "" "likely pathogenic (recessive)" ""
"0000770438" "0" "70" "1" "94564543" "94564543" "subst" "0.000211952" "01695" "ABCA4_000945" "g.94564543G>A" "" "{PMID:Joo 2019:31814693}" "" "c.575C>T" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94098987G>A" "" "likely pathogenic (recessive)" ""
"0000770439" "0" "70" "1" "94528164" "94528164" "subst" "0" "01695" "ABCA4_001311" "g.94528164G>T" "" "{PMID:Joo 2019:31814693}" "" "c.1906C>A" "" "Unknown" "" "" "0" "" "" "g.94062608G>T" "" "likely pathogenic (recessive)" ""
"0000770440" "0" "70" "1" "94487427" "94487427" "subst" "8.12176E-6" "01695" "ABCA4_001339" "g.94487427A>G" "" "{PMID:Joo 2019:31814693}" "" "c.4748T>C" "" "Unknown" "" "" "0" "" "" "g.94021871A>G" "" "likely pathogenic (recessive)" ""
"0000770441" "0" "70" "1" "94487427" "94487427" "subst" "8.12176E-6" "01695" "ABCA4_001339" "g.94487427A>G" "" "{PMID:Joo 2019:31814693}" "" "c.4748T>C" "" "Unknown" "" "" "0" "" "" "g.94021871A>G" "" "likely pathogenic (recessive)" ""
"0000770442" "0" "70" "1" "94577082" "94577082" "subst" "2.84315E-5" "01695" "ABCA4_000232" "g.94577082C>T" "" "{PMID:Rehman 2019:31877759}" "" "c.214G>A p.Gly72Arg" "" "Unknown" "" "" "0" "" "" "g.94111526C>T" "" "likely pathogenic (recessive)" ""
"0000770443" "0" "70" "1" "94577082" "94577082" "subst" "2.84315E-5" "01695" "ABCA4_000232" "g.94577082C>T" "" "{PMID:Rehman 2019:31877759}" "" "c.214G>A p.Gly72Arg" "" "Unknown" "" "" "0" "" "" "g.94111526C>T" "" "likely pathogenic (recessive)" ""
"0000770444" "0" "70" "1" "94577082" "94577082" "subst" "2.84315E-5" "01695" "ABCA4_000232" "g.94577082C>T" "" "{PMID:Rehman 2019:31877759}" "" "c.214G>A p.Gly72Arg" "" "Unknown" "" "" "0" "" "" "g.94111526C>T" "" "likely pathogenic (recessive)" ""
"0000770445" "0" "70" "1" "94577082" "94577082" "subst" "2.84315E-5" "01695" "ABCA4_000232" "g.94577082C>T" "" "{PMID:Rehman 2019:31877759}" "" "c.214G>A p.Gly72Arg" "" "Unknown" "" "" "0" "" "" "g.94111526C>T" "" "likely pathogenic (recessive)" ""
"0000770446" "0" "70" "1" "94577082" "94577082" "subst" "2.84315E-5" "01695" "ABCA4_000232" "g.94577082C>T" "" "{PMID:Rehman 2019:31877759}" "" "c.214G>A p.Gly72Arg" "" "Unknown" "" "" "0" "" "" "g.94111526C>T" "" "likely pathogenic (recessive)" ""
"0000770447" "0" "70" "1" "94577082" "94577082" "subst" "2.84315E-5" "01695" "ABCA4_000232" "g.94577082C>T" "" "{PMID:Rehman 2019:31877759}" "" "c.214G>A p.Gly72Arg" "" "Unknown" "" "" "0" "" "" "g.94111526C>T" "" "likely pathogenic (recessive)" ""
"0000770448" "0" "70" "1" "94577082" "94577082" "subst" "2.84315E-5" "01695" "ABCA4_000232" "g.94577082C>T" "" "{PMID:Rehman 2019:31877759}" "" "c.214G>A p.Gly72Arg" "" "Unknown" "" "" "0" "" "" "g.94111526C>T" "" "likely pathogenic (recessive)" ""
"0000770449" "0" "90" "1" "94509001" "94509001" "subst" "0" "01695" "ABCA4_001405" "g.94509001A>C" "" "{PMID:Rehman 2019:31877759}" "" "c.3081T>G p.Tyr1027Ter" "" "Unknown" "" "" "0" "" "" "g.94043445A>C" "" "pathogenic (recessive)" ""
"0000770450" "0" "70" "1" "94577082" "94577082" "subst" "2.84315E-5" "01695" "ABCA4_000232" "g.94577082C>T" "" "{PMID:Rehman 2019:31877759}" "" "c.214G>A p.Gly72Arg" "" "Unknown" "" "" "0" "" "" "g.94111526C>T" "" "likely pathogenic (recessive)" ""
"0000770451" "0" "70" "1" "94577082" "94577082" "subst" "2.84315E-5" "01695" "ABCA4_000232" "g.94577082C>T" "" "{PMID:Rehman 2019:31877759}" "" "c.214G>A p.Gly72Arg" "" "Unknown" "" "" "0" "" "" "g.94111526C>T" "" "likely pathogenic (recessive)" ""
"0000770452" "0" "70" "1" "94522239" "94522239" "subst" "2.03305E-5" "01695" "ABCA4_000736" "g.94522239A>T" "" "{PMID:Müller 2019:31879568}{PMID:Müller 2020:32891696}{PMID:Müller 2020:32751377}" "" "E15 c.2300T>A/p.(Val767Asp) E42 c.5882G>A/p.(Gly1961Glu)" "" "Unknown" "" "" "0" "" "" "g.94056683A>T" "" "likely pathogenic (recessive)" ""
"0000770453" "0" "70" "1" "94577102" "94577102" "subst" "4.06161E-6" "01695" "ABCA4_000033" "g.94577102C>T" "" "{PMID:Müller 2019:31879568}{PMID:Müller 2020:32891696}{PMID:Müller 2020:32751377}" "" "E3 c.194G>A/p.(Gly65Glu) E17 c.2588G>C/p.(Gly963Ala)" "" "Unknown" "" "" "0" "" "" "g.94111546C>T" "" "likely pathogenic (recessive)" ""
"0000770454" "0" "50" "1" "94528729" "94528729" "subst" "0.000255885" "01695" "ABCA4_000297" "g.94528729C>T" "" "{PMID:Mandal 2005:16123440}" "" "G1699A Val567Met" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94063173C>T" "" "VUS" ""
"0000770455" "0" "10" "1" "94505604" "94505604" "subst" "0.00645586" "01695" "ABCA4_000092" "g.94505604A>C" "" "{PMID:Mandal 2005:16123440}" "" "T3602G Leu1201Arg" "" "Unknown" "" "" "0" "" "" "g.94040048A>C" "" "benign" ""
"0000770456" "0" "90" "1" "94505685" "94505685" "subst" "0" "01695" "ABCA4_000611" "g.94505685T>A" "" "{PMID:Mandal 2005:16123440}" "" "IVS23-2A>T" "" "Unknown" "" "" "0" "" "" "g.94040129T>A" "" "pathogenic (recessive)" ""
"0000770457" "3" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Collin 2011:21217109}" "" "c.768G_x005F_x0002_T p.Val256Val/ aberrant splicing" "" "Unknown" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000770458" "0" "90" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Song 2011:22025579}" "" "c.6320G>A p.Arg2107His" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94001068C>T" "" "pathogenic (recessive)" ""
"0000770459" "0" "50" "1" "94496039" "94496039" "subst" "0.00157963" "01695" "ABCA4_000552" "g.94496039C>T" "" "{PMID:Song 2011:22025579}" "" "c.4297G>A p.Val1433Ile" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94030483C>T" "" "VUS" ""
"0000770460" "10" "90" "1" "94505611" "94505611" "subst" "0" "01695" "ABCA4_001887" "g.94505611G>A" "" "{PMID:Song 2011:22025579}" "" "c.3595C>T p.Gln1199Ter" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94040055G>A" "" "pathogenic (recessive)" ""
"0000770461" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Song 2011:22025579}" "" "c.5882G>A p.Gly1961Glu" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000770462" "0" "70" "1" "94487251" "94487251" "subst" "2.85679E-5" "01695" "ABCA4_000490" "g.94487251G>T" "" "{PMID:Song 2011:22025579}" "" "c.4793C>A p.Ala1598Asp" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94021695G>T" "" "likely pathogenic (recessive)" ""
"0000770463" "0" "90" "1" "94543246" "94543246" "subst" "0" "01695" "ABCA4_000010" "g.94543246C>T" "" "{PMID:Neveling 2012:22334370}" "" "M1 = c.1554G>A (p.(?))" "" "Unknown" "yes" "" "0" "" "" "g.94077690C>T" "" "pathogenic (recessive)" ""
"0000770464" "1" "50" "1" "94543278" "94543278" "subst" "0.000178952" "01695" "ABCA4_000004" "g.94543278G>A" "" "{PMID:Neveling 2012:22334370}" "" "M1 = c.5843C>T (p.(P1948L))" "" "Unknown" "" "" "0" "" "" "g.94077722G>A" "" "VUS" ""
"0000770465" "0" "90" "1" "94508454" "94508456" "del" "0" "01695" "ABCA4_000006" "g.94508454_94508456del" "" "{PMID:Neveling 2012:22334370}" "" "M1 = c.3191?2_3191del" "" "Unknown" "yes" "" "0" "" "" "g.94042898_94042900del" "" "pathogenic (recessive)" ""
"0000770466" "3" "90" "1" "94463488" "94463488" "subst" "5.2803E-5" "01695" "ABCA4_000802" "g.94463488G>A" "" "{PMID:Khan 2013:23134348}" "" "c.6658C>T (p.Gln2220*)" "" "Unknown" "yes" "" "0" "" "" "g.93997932G>A" "" "pathogenic (recessive)" ""
"0000770467" "3" "70" "1" "94461735" "94461735" "subst" "0" "01695" "ABCA4_001414" "g.94461735G>T" "" "{PMID:Müller 2020:31917732}" "" "c.6746C>A/p.(Ala2249Asp)" "" "Unknown" "" "" "0" "" "" "g.93996179G>T" "" "likely pathogenic (recessive)" ""
"0000770468" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Müller 2020:31917732}{PMID:Müller 2020:32751377}" "" "c.768G>T/p.(Val256Val)" "" "Unknown" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000770469" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Müller 2020:31917732}" "" "c.1622T>C/p.(Leu541Pro) // c.3113C>T/p.(Ala1038Val)" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000770470" "0" "90" "1" "94526296" "94526296" "subst" "1.64555E-5" "01695" "ABCA4_000768" "g.94526296G>A" "" "{PMID:Müller 2020:31917732}" "" "c.1957C>T/p.(Arg653Cys)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94060740G>A" "" "pathogenic (recessive)" ""
"0000770471" "0" "50" "1" "94543389" "94543389" "subst" "0.000861235" "01695" "ABCA4_000312" "g.94543389C>T" "" "{PMID:Müller 2020:31917732}" "" "c.1411G>A/p.(Glu471Lys)" "" "Unknown" "" "" "0" "" "" "g.94077833C>T" "" "VUS" ""
"0000770472" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Müller 2020:31917732}" "" "c.1622T>C/p.(Leu541Pro) // c.3113C>T/p.(Ala1038Val)" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000770473" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Müller 2020:31917732}" "" "c.5714+5G>A" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000770474" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Müller 2020:31917732}" "" "c.5714+5G>A" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000770475" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Müller 2020:31917732}" "" "c.2588G>C/p.(Gly863Ala) // c.5603A>T/p.(Asn1868Ile)" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000770476" "0" "70" "1" "94528709" "94528709" "subst" "0" "01695" "ABCA4_001049" "g.94528709C>T" "" "{PMID:Müller 2020:31917732}" "" "c.1719G>A/p.(Met573Ile)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94063153C>T" "" "likely pathogenic (recessive)" ""
"0000770477" "0" "50" "1" "94496610" "94496610" "subst" "2.03128E-5" "01695" "ABCA4_000571" "g.94496610C>T" "" "{PMID:Müller 2020:31917732}" "" "c.3195G>A/p.(Glu1399Lys)" "" "Unknown" "" "" "0" "" "" "g.94031054C>T" "" "VUS" ""
"0000770478" "0" "90" "1" "94466663" "94466663" "subst" "0" "01695" "ABCA4_001588" "g.94466663T>C" "" "{PMID:Müller 2020:31917732}" "" "c.6283-2A>G" "" "Unknown" "" "" "0" "" "" "g.94001107T>C" "" "pathogenic (recessive)" ""
"0000770479" "0" "70" "1" "94495078" "94495078" "subst" "8.37044E-6" "01695" "ABCA4_000042" "g.94495078A>G" "" "{PMID:Müller 2020:31917732}" "" "c.4462T>C/p.(Cys1488Arg)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94029522A>G" "" "likely pathogenic (recessive)" ""
"0000770480" "0" "70" "1" "94546124" "94546124" "subst" "0" "01695" "ABCA4_000342" "g.94546124A>G" "" "{PMID:Müller 2020:31917732}" "" "c.1009T>C/p.(Phe337Leu) // c.1937+1G>A" "" "Unknown" "" "" "0" "" "" "g.94080568A>G" "" "likely pathogenic (recessive)" ""
"0000770481" "0" "70" "1" "94528248" "94528248" "subst" "1.22148E-5" "01695" "ABCA4_000279" "g.94528248A>T" "" "{PMID:Müller 2020:31917732}" "" "c.1822T>A/p.(Phe608Ile) // c.4773+48C>T // c.5682G>C/p.(Leu1894Leu)" "" "Unknown" "" "" "0" "" "" "g.94062692A>T" "" "likely pathogenic (recessive)" ""
"0000770482" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Müller 2020:31917732}" "" "c.2588G>C/p.(Gly863Ala) // c.5603A>T/p.(Asn1868Ile)" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000770483" "0" "90" "1" "94528844" "94528844" "subst" "0" "01695" "ABCA4_001435" "g.94528844G>T" "" "{PMID:Müller 2020:31917732}" "" "c.1584C>A/p.(Tyr528*)" "" "Unknown" "" "" "0" "" "" "g.94063288G>T" "" "pathogenic (recessive)" ""
"0000770484" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Müller 2020:31917732}" "" "c.1622T>C/p.(Leu541Pro) // c.3113C>T/p.(Ala1038Val)" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000770485" "3" "90" "1" "94463488" "94463488" "subst" "5.2803E-5" "01695" "ABCA4_000802" "g.94463488G>A" "" "{PMID:Raj 2020:31934596}" "" "c.C6658T Q2220Ter" "" "Unknown" "yes" "" "0" "" "" "g.93997932G>A" "" "pathogenic (recessive)" ""
"0000770486" "3" "90" "1" "94463488" "94463488" "subst" "5.2803E-5" "01695" "ABCA4_000802" "g.94463488G>A" "" "{PMID:Raj 2020:31934596}" "" "c.C6658T Q2220Ter" "" "Unknown" "yes" "" "0" "" "" "g.93997932G>A" "" "pathogenic (recessive)" ""
"0000770487" "1" "90" "1" "94526258" "94526258" "subst" "4.07183E-6" "01695" "ABCA4_000762" "g.94526258G>T" "" "{PMID:Raj 2020:31934596}" "" "c.C1995A Y665Ter" "" "Unknown" "yes" "" "0" "" "" "g.94060702G>T" "" "pathogenic (recessive)" ""
"0000770488" "1" "90" "1" "94466589" "94466589" "del" "0" "01695" "ABCA4_001580" "g.94466589del" "" "{PMID:Raj 2020:31934596}" "" "c.6355DelC -" "" "Unknown" "yes" "" "0" "" "" "g.94001033del" "" "pathogenic (recessive)" ""
"0000770489" "1" "70" "1" "94502328" "94502328" "subst" "0.000255854" "01695" "ABCA4_001035" "g.94502328G>A" "" "{PMID:Raj 2020:31934596}" "" "c.C3830T/ c.4774-2A>G T1277M" "" "Unknown" "yes" "" "0" "" "" "g.94036772G>A" "" "likely pathogenic (recessive)" ""
"0000770490" "3" "70" "1" "94471049" "94471049" "subst" "0" "01695" "ABCA4_000795" "g.94471049T>C" "" "{PMID:Raj 2020:31934596}" "" "c.A6095G H2032R" "" "Unknown" "yes" "" "0" "" "" "g.94005493T>C" "" "likely pathogenic (recessive)" ""
"0000770491" "3" "70" "1" "94512493" "94512493" "subst" "0" "01695" "ABCA4_001979" "g.94512493G>A" "" "{PMID:Raj 2020:31934596}" "" "c.C2900T A967V" "" "Unknown" "yes" "" "0" "" "" "g.94046937G>A" "" "likely pathogenic (recessive)" ""
"0000770492" "1" "70" "1" "94577079" "94577079" "subst" "0" "01695" "ABCA4_002227" "g.94577079T>A" "" "{PMID:Raj 2020:31934596}" "" "c.A217T I73F" "" "Unknown" "yes" "" "0" "" "" "g.94111523T>A" "" "likely pathogenic (recessive)" ""
"0000770493" "3" "70" "1" "94512481" "94512481" "subst" "4.06524E-6" "01695" "ABCA4_000679" "g.94512481G>T" "" "{PMID:Raj 2020:31934596}" "" "c.C2912A T971A" "" "Unknown" "yes" "" "0" "" "" "g.94046925G>T" "" "likely pathogenic (recessive)" ""
"0000770494" "1" "70" "1" "94508322" "94508322" "subst" "1.62513E-5" "01695" "ABCA4_000128" "g.94508322C>T" "" "{PMID:Raj 2020:31934596}" "" "c.G3323A A1108H" "" "Unknown" "yes" "" "0" "" "" "g.94042766C>T" "" "likely pathogenic (recessive)" ""
"0000770495" "1" "70" "1" "94512481" "94512481" "subst" "4.06524E-6" "01695" "ABCA4_000679" "g.94512481G>T" "" "{PMID:Raj 2020:31934596}" "" "c.C2912A T971A" "" "Unknown" "yes" "" "0" "" "" "g.94046925G>T" "" "likely pathogenic (recessive)" ""
"0000770496" "3" "90" "1" "94480098" "94480098" "subst" "0" "01695" "ABCA4_000437" "g.94480098C>T" "" "{PMID:Abu Ameerh 2020:31968401}" "" "c.5460+1G>A" "" "Unknown" "yes" "" "0" "" "" "g.94014542C>T" "" "pathogenic (recessive)" ""
"0000770497" "3" "70" "1" "94528780" "94528780" "subst" "4.06171E-6" "01695" "ABCA4_000299" "g.94528780C>T" "" "{PMID:Abu Ameerh 2020:31968401}" "" "c.1648G>A" "" "Unknown" "yes" "" "0" "" "" "g.94063224C>T" "" "likely pathogenic (recessive)" ""
"0000770498" "3" "90" "1" "94480098" "94480098" "subst" "0" "01695" "ABCA4_000437" "g.94480098C>T" "" "{PMID:Abu Ameerh 2020:31968401}" "" "c.5460+1G>A" "" "Unknown" "yes" "" "0" "" "" "g.94014542C>T" "" "pathogenic (recessive)" ""
"0000770499" "0" "30" "1" "94525509" "94525509" "subst" "0" "01695" "ABCA4_000747" "g.94525509T>C" "" "{PMID:Cho 2020:32000842}" "" "c.2160+584A>G" "" "Unknown" "" "" "0" "" "" "g.94059953T>C" "" "likely benign" ""
"0000770500" "0" "50" "1" "94492916" "94492916" "subst" "0" "01695" "ABCA4_001797" "g.94492916C>T" "" "{PMID:Cho 2020:32000842}" "" "c.4539+2085G>A" "" "Unknown" "" "" "0" "" "" "g.94027360C>T" "" "VUS" ""
"0000770501" "21" "70" "1" "94564378" "94564378" "subst" "0" "01695" "ABCA4_000368" "g.94564378T>A" "" "{PMID:Cho 2020:32000842}" "" "c.740A>T p.(Asn247Ile)" "" "Unknown" "" "" "0" "" "" "g.94098822T>A" "" "likely pathogenic (recessive)" ""
"0000770502" "0" "70" "1" "94480241" "94480241" "subst" "7.71705E-5" "01695" "ABCA4_000446" "g.94480241G>A" "" "{PMID:Liu 2020:32090030}" "" "c.5318C>T p.A1773V" "" "Unknown" "" "" "0" "" "" "g.94014685G>A" "" "likely pathogenic (recessive)" ""
"0000770503" "0" "90" "1" "94578532" "94578532" "subst" "4.06141E-6" "01695" "ABCA4_002238" "g.94578532C>A" "" "{PMID:Liu 2020:32090030}" "" "c.157G>T p.E53*" "" "Unknown" "" "" "0" "" "" "g.94112976C>A" "" "pathogenic (recessive)" ""
"0000770504" "3" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Zanolli 2020:32141364}" "" "c.3113C>T;" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000770505" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Zanolli 2020:32141364}" "" "c.5882G>A;" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000770506" "0" "70" "1" "94473266" "94473266" "subst" "8.14677E-6" "01695" "ABCA4_000389" "g.94473266C>T" "" "{PMID:Zanolli 2020:32141364}" "" "c.5929G>A;" "" "Unknown" "" "" "0" "" "" "g.94007710C>T" "" "likely pathogenic (recessive)" ""
"0000770507" "3" "70" "1" "94544213" "94544213" "subst" "0" "01695" "ABCA4_002133" "g.94544213G>T" "" "{PMID:Zanolli 2020:32141364}" "" "c.1289C>A;" "" "Unknown" "" "" "0" "" "" "g.94078657G>T" "" "likely pathogenic (recessive)" ""
"0000770508" "0" "90" "1" "94546098" "94546111" "del" "0" "01695" "ABCA4_000022" "g.94546098_94546111del" "" "{PMID:Zanolli 2020:32141364}" "" "c.1025_1038del14" "" "Unknown" "" "" "0" "" "" "g.94080542_94080555del" "" "pathogenic (recessive)" ""
"0000770509" "0" "70" "1" "94486896" "94486896" "subst" "3.65562E-5" "01695" "ABCA4_000085" "g.94486896G>A" "" "{PMID:Zanolli 2020:32141364}" "" "c.4918c>t;" "" "Unknown" "" "" "0" "" "" "g.94021340G>A" "" "likely pathogenic (recessive)" ""
"0000770510" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Zanolli 2020:32141364}" "" "3386G>T;" "" "Unknown" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000770511" "3" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Zanolli 2020:32141364}" "" "3386G>T;" "" "Unknown" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000770512" "0" "90" "1" "94546098" "94546111" "del" "0" "01695" "ABCA4_000022" "g.94546098_94546111del" "" "{PMID:Zanolli 2020:32141364}" "" "c.1025_1038del14;" "" "Unknown" "" "" "0" "" "" "g.94080542_94080555del" "" "pathogenic (recessive)" ""
"0000770513" "0" "70" "1" "94544213" "94544213" "subst" "0" "01695" "ABCA4_002133" "g.94544213G>T" "" "{PMID:Zanolli 2020:32141364}" "" "c.1289C>A;c.768G>C" "" "Unknown" "" "" "0" "" "" "g.94078657G>T" "" "likely pathogenic (recessive)" ""
"0000770514" "3" "70" "1" "94574187" "94574187" "subst" "0" "01695" "ABCA4_002212" "g.94574187G>T" "" "{PMID:Zanolli 2020:32141364}" "" "c.388C>A;" "" "Unknown" "" "" "0" "" "" "g.94108631G>T" "" "likely pathogenic (recessive)" ""
"0000770515" "3" "70" "1" "94544213" "94544213" "subst" "0" "01695" "ABCA4_002133" "g.94544213G>T" "" "{PMID:Zanolli 2020:32141364}" "" "c.1289C>A;" "" "Unknown" "" "" "0" "" "" "g.94078657G>T" "" "likely pathogenic (recessive)" ""
"0000770516" "0" "90" "1" "94546098" "94546111" "del" "0" "01695" "ABCA4_000022" "g.94546098_94546111del" "" "{PMID:Zanolli 2020:32141364}" "" "c.1025_1038del14;" "" "Unknown" "" "" "0" "" "" "g.94080542_94080555del" "" "pathogenic (recessive)" ""
"0000770517" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Zanolli 2020:32141364}" "" "c.1622T>C;" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000770518" "0" "90" "1" "94546098" "94546111" "del" "0" "01695" "ABCA4_000022" "g.94546098_94546111del" "" "{PMID:Zanolli 2020:32141364}" "" "c.1025_1038del14;" "" "Unknown" "" "" "0" "" "" "g.94080542_94080555del" "" "pathogenic (recessive)" ""
"0000770519" "0" "50" "1" "94476378" "94476378" "subst" "0.000499679" "01695" "ABCA4_000412" "g.94476378G>A" "" "{PMID:Zanolli 2020:32141364}" "" "c.5692C>T;" "" "Unknown" "" "" "0" "" "" "g.94010822G>A" "" "VUS" ""
"0000770520" "0" "70" "1" "94473266" "94473266" "subst" "8.14677E-6" "01695" "ABCA4_000389" "g.94473266C>T" "" "{PMID:Zanolli 2020:32141364}" "" "c.5929G>A;" "" "Unknown" "" "" "0" "" "" "g.94007710C>T" "" "likely pathogenic (recessive)" ""
"0000770521" "0" "90" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Zanolli 2020:32141364}" "" "c.634C>T" "" "Unknown" "" "" "0" "" "" "g.94098928G>A" "" "pathogenic (recessive)" ""
"0000770522" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Light 2017:28099317}" "" "c.546110C>T;" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000770523" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Light 2017:28099317}" "" "c.5461-10C>T;" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000770524" "0" "70" "1" "94520801" "94520801" "subst" "0.000211489" "01695" "ABCA4_000724" "g.94520801C>T" "" "{PMID:Light 2017:28099317}" "" "c.2453G>A;" "" "Unknown" "" "" "0" "" "" "g.94055245C>T" "" "likely pathogenic (recessive)" ""
"0000770525" "0" "70" "1" "94495177" "94495177" "subst" "1.22342E-5" "01695" "ABCA4_000023" "g.94495177A>G" "" "{PMID:Light 2017:28099317}" "" "c.4363T>C;" "" "Unknown" "" "" "0" "" "" "g.94029621A>G" "" "likely pathogenic (recessive)" ""
"0000770526" "0" "90" "1" "94544895" "94544895" "subst" "1.62455E-5" "01695" "ABCA4_000329" "g.94544895G>A" "" "{PMID:Light 2017:28099317}" "" "p>R408X;" "" "Unknown" "" "" "0" "" "" "g.94079339G>A" "" "pathogenic (recessive)" ""
"0000770527" "0" "70" "1" "94512478" "94512478" "subst" "3.65871E-5" "01695" "ABCA4_000678" "g.94512478G>T" "" "{PMID:Light 2017:28099317}{PMID:Cai 2018:29126757}" "" "c.2915C>A;" "" "Unknown" "" "" "0" "" "" "g.94046922G>T" "" "likely pathogenic (recessive)" ""
"0000770528" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Light 2017:28099317}{PMID:Cai 2018:29126757}" "" "c2588G>C;" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000770529" "3" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Light 2017:28099317}" "" "c.5882G>A" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000770530" "0" "90" "1" "94490606" "94490606" "subst" "4.06091E-6" "01695" "ABCA4_000086" "g.94490606T>C" "" "{PMID:Light 2017:28099317}" "" "c.4540-2A>G;" "" "Unknown" "" "" "0" "" "" "g.94025050T>C" "" "pathogenic (recessive)" ""
"0000770531" "0" "70" "1" "94506923" "94506923" "subst" "2.43657E-5" "01695" "ABCA4_000012" "g.94506923C>T" "" "{PMID:Light 2017:28099317}" "" "c.3364G>A;" "" "Unknown" "" "" "0" "" "" "g.94041367C>T" "" "likely pathogenic (recessive)" ""
"0000770532" "0" "90" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Light 2017:28099317}{PMID:Cai 2018:29126757}" "" "c.6320G>A;" "" "Unknown" "" "" "0" "" "" "g.94001068C>T" "" "pathogenic (recessive)" ""
"0000770533" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Light 2017:28099317}" "" "c.3322C>T;" "" "Unknown" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000770534" "0" "90" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Light 2017:28099317}" "" "c.6320G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94001068C>T" "" "pathogenic (recessive)" ""
"0000770535" "0" "90" "1" "94496571" "94496571" "subst" "4.06174E-6" "01695" "ABCA4_000111" "g.94496571G>A" "" "{PMID:Light 2017:28099317}" "" "c.4234C>T" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94031015G>A" "" "pathogenic (recessive)" ""
"0000770536" "0" "90" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Light 2017:28099317}" "" "c.6320G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94001068C>T" "" "pathogenic (recessive)" ""
"0000770537" "0" "50" "1" "94502756" "94502756" "subst" "0.000422575" "01695" "ABCA4_000032" "g.94502756G>A" "" "{PMID:Light 2017:28099317}" "" "c.3758C>T; c.5822G>A" "" "Unknown" "" "" "0" "" "" "g.94037200G>A" "" "VUS" ""
"0000770538" "0" "70" "1" "94564445" "94564445" "subst" "0.000203219" "01695" "ABCA4_001127" "g.94564445C>T" "" "{PMID:Huang 2013:23563732}" "" "c.673G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94098889C>T" "" "likely pathogenic (recessive)" ""
"0000770539" "0" "90" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Huang 2013:23563732}" "" "c.634C>T" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94098928G>A" "" "pathogenic (recessive)" ""
"0000770540" "0" "90" "1" "94497474" "94497474" "subst" "0" "01695" "ABCA4_000583" "g.94497474C>A" "" "{PMID:de Castro-Miró 2014:24516651}" "" "c.3988G.T p.E1330X" "" "Unknown" "" "" "0" "" "" "g.94031918C>A" "" "pathogenic (recessive)" ""
"0000770541" "3" "90" "1" "94528667" "94528667" "subst" "0" "01695" "ABCA4_000290" "g.94528667C>A" "" "{PMID:Xu 2014:24938718}" "" "c.[1760+1G>T];[1760+1G>T]" "" "Unknown" "" "" "0" "" "" "g.94063111C>A" "" "pathogenic (recessive)" ""
"0000770542" "3" "90" "1" "94495009" "94495009" "dup" "0" "01695" "ABCA4_000087" "g.94495009dup" "" "{PMID:Xu 2014:24938718}" "" "c.[4537dupC];[4537dupC]" "" "Unknown" "" "" "0" "" "" "g.94029453dup" "" "pathogenic (recessive)" ""
"0000770543" "0" "90" "1" "94548906" "94548906" "subst" "0" "01695" "ABCA4_000358" "g.94548906A>T" "" "{PMID:Xu 2014:24938718}" "" "c.[858+2T>A(;)5318C>T]" "" "Unknown" "" "" "0" "" "" "g.94083350A>T" "" "pathogenic (recessive)" ""
"0000770544" "1" "70" "1" "94546150" "94546150" "subst" "4.06828E-6" "01695" "ABCA4_000346" "g.94546150T>A" "" "{PMID:Xu 2014:24938718}" "" "c.[983A>T;3106G>A];[2063dupA]" "" "Unknown" "" "" "0" "" "" "g.94080594T>A" "" "likely pathogenic (recessive)" ""
"0000770545" "1" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "" "{PMID:Midgley 2020:32913387}" "" "[c.5603A>T; c.4469G>A]" "" "Unknown" "" "" "0" "" "" "g.94029515C>T" "" "likely pathogenic (recessive)" ""
"0000770546" "1" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "" "{PMID:Midgley 2020:32913387}" "" "[c.5603A>T; c.4469G>A]" "" "Unknown" "" "" "0" "" "" "g.94029515C>T" "" "likely pathogenic (recessive)" ""
"0000770547" "1" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Midgley 2020:32913387}" "" "[c.5603A>T; c.5461–10T>C]" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000770548" "1" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Midgley 2020:32913387}" "" "[c.5603A>T; c.5461–10T>C]" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000770549" "1" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Midgley 2020:32913387}" "" "[c.2588G>C; c.5603A>T]" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000770550" "1" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Midgley 2020:32913387}" "" "[c.5603A>T; c.4469G>A]" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000770551" "1" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Midgley 2020:32913387}" "" "[c.5603A>T; c.4469G>A]" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000770552" "1" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Midgley 2020:32913387}" "" "[c.5603A>T; c.4469G>A]" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000770553" "1" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Midgley 2020:32913387}" "" "[c.5603A>T; c.5461–10T>C]" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000770554" "1" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Midgley 2020:32913387}" "" "[c.5603A>T; c.5461–10T>C]" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000770555" "1" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Midgley 2020:32913387}" "" "[c.2588G>C; c.5603A>T]" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000770556" "1" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Midgley 2020:32913387}" "" "[c.2588G>C; c.5603A>T]" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000770557" "3" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Midgley 2020:32913387}" "" "[c.5603A>T, c.4469G>A]" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000770558" "1" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Midgley 2020:32913387}" "" "[c.2588G>C; c.5603A>T]" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000770559" "1" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Midgley 2020:32913387}" "" "[c.5603A>T; c.4469G>A]" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000770560" "1" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Midgley 2020:32913387}" "" "[c.5603A>T; c.4469G>A]" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000770561" "3" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Midgley 2020:32913387}" "" "[c.5603A>T; c.5461–10T>C]" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000770562" "1" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Midgley 2020:32913387}" "" "[c.5603A>T; c.4469G>A]" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000770563" "1" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Midgley 2020:32913387}" "" "[c.5603A>T; c.4469G>A]" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000770564" "1" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Midgley 2020:32913387}" "" "[c.5603A>T;c.4469G>A]" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000770565" "3" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Midgley 2020:32913387}" "" "[c.5603A>T; c.4469G>A]" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000770566" "0" "90" "1" "94564374" "94564377" "del" "0" "01695" "ABCA4_001439" "g.94564374_94564377del" "" "{PMID:Müller 2020:32891696}{PMID:Müller 2020:32751377}{PMID:Gliem 2020:32646556}" "" "c.741_744delCGTG / p.(Asn247Lysfs*14)" "" "Unknown" "" "" "0" "" "" "g.94098818_94098821del" "" "pathogenic (recessive)" ""
"0000770567" "0" "70" "1" "94577135" "94577135" "subst" "2.43718E-5" "01695" "ABCA4_000240" "g.94577135C>T" "" "{PMID:Hull 2020:32856788}" "" "c.161G>A p.Cys54Tyr" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94111579C>T" "" "likely pathogenic (recessive)" ""
"0000770568" "0" "90" "1" "94568570" "94568570" "subst" "0" "01695" "ABCA4_000200" "g.94568570C>T" "" "{PMID:Hull 2020:32856788}" "" "c.570+1G>A p.?" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94103014C>T" "" "pathogenic (recessive)" ""
"0000770569" "21" "90" "1" "94564418" "94564418" "subst" "0" "01695" "ABCA4_000375" "g.94564418G>A" "" "{PMID:Hull 2020:32856788}" "" "c.700C>T p.Gln234* (maternal)" "" "Unknown" "yes" "" "0" "" "" "g.94098862G>A" "" "pathogenic (recessive)" ""
"0000770570" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Hull 2020:32856788}" "" "c.768G>T p.Val256Val" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000770571" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Hull 2020:32856788}" "" "c.768G>T p.Val256Val" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000770572" "0" "50" "1" "94563812" "94563812" "subst" "0" "01695" "ABCA4_002167" "g.94563812G>C" "" "{PMID:Hull 2020:32856788}" "" "c.768+538C>G p.?" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94098256G>C" "" "VUS" ""
"0000770573" "0" "90" "1" "94546248" "94546248" "del" "2.03666E-5" "01695" "ABCA4_000352" "g.94546248del" "" "{PMID:Hull 2020:32856788}" "" "c.885delC p.Leu296Cysfs*4" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94080692del" "" "pathogenic (recessive)" ""
"0000770574" "0" "70" "1" "94544249" "94544249" "subst" "8.12196E-6" "01695" "ABCA4_000323" "g.94544249A>G" "" "{PMID:Hull 2020:32856788}" "" "c.1253T>C p.Phe418Ser" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94078693A>G" "" "likely pathogenic (recessive)" ""
"0000770575" "0" "70" "1" "94528854" "94528854" "subst" "0" "01695" "ABCA4_002105" "g.94528854A>G" "" "{PMID:Hull 2020:32856788}" "" "c.1574T>C p.Phe525Ser" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94063298A>G" "" "likely pathogenic (recessive)" ""
"0000770576" "11" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Hull 2020:32856788}" "" "c.1622T>C c.3113C>T p.Leu541Pro (paternal) p.Ala1038Val (paternal))" "" "Unknown" "yes" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000770577" "0" "50" "1" "94528774" "94528774" "subst" "0.00264827" "01695" "ABCA4_000298" "g.94528774C>T" "" "{PMID:Hull 2020:32856788}" "" "c.1654G>A p.Val552Ile" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94063218C>T" "" "VUS" ""
"0000770578" "0" "50" "1" "94528774" "94528774" "subst" "0.00264827" "01695" "ABCA4_000298" "g.94528774C>T" "" "{PMID:Hull 2020:32856788}" "" "c.1654G>A p.Val552Ile" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94063218C>T" "" "VUS" ""
"0000770579" "0" "50" "1" "94528137" "94528137" "subst" "2.03363E-5" "01695" "ABCA4_000774" "g.94528137C>T" "" "{PMID:Hull 2020:32856788}" "" "c.1933G>A p.Asp645Asn" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94062581C>T" "" "VUS" ""
"0000770580" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Hull 2020:32856788}" "" "c.2588G>C p.Gly863Ala" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000770581" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Hull 2020:32856788}" "" "c.2588G>C p.Gly863Ala" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000770582" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Hull 2020:32856788}" "" "c.2588G>C p.Gly863Ala" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000770583" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Hull 2020:32856788}" "" "c.2588G>C p.Gly863Ala" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000770584" "11" "50" "1" "94517225" "94517225" "subst" "8.12249E-6" "01695" "ABCA4_000703" "g.94517225A>G" "" "{PMID:Hull 2020:32856788}" "" "c.2617T>C p.Phe873Leu (paternal)" "" "Unknown" "yes" "" "0" "" "" "g.94051669A>G" "" "VUS" ""
"0000770585" "11" "50" "1" "94517225" "94517225" "subst" "8.12249E-6" "01695" "ABCA4_000703" "g.94517225A>G" "" "{PMID:Hull 2020:32856788}" "" "c.2617C>T p.Phe873Leu (paternal)" "" "Unknown" "yes" "" "0" "" "" "g.94051669A>G" "" "VUS" ""
"0000770586" "0" "90" "1" "94508435" "94508436" "dup" "0" "01695" "ABCA4_000998" "g.94508435_94508436dup" "" "{PMID:Hull 2020:32856788}" "" "c.3210_3211dupGT p.Ser1071Cysfs*14" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94042879_94042880dup" "" "pathogenic (recessive)" ""
"0000770587" "3" "90" "1" "94508386" "94508386" "subst" "1.62443E-5" "01695" "ABCA4_000642" "g.94508386C>T" "" "{PMID:Hull 2020:32856788}" "" "c.3259G>A p.Glu1087Lys" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94042830C>T" "" "pathogenic (recessive)" ""
"0000770588" "0" "90" "1" "94508386" "94508386" "subst" "1.62443E-5" "01695" "ABCA4_000642" "g.94508386C>T" "" "{PMID:Hull 2020:32856788}" "" "c.3259G>A p.Glu1087Lys" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94042830C>T" "" "pathogenic (recessive)" ""
"0000770589" "0" "70" "1" "94506923" "94506923" "subst" "2.43657E-5" "01695" "ABCA4_000012" "g.94506923C>T" "" "{PMID:Hull 2020:32856788}" "" "c.3364G>A p.Glu1122Lys" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94041367C>T" "" "likely pathogenic (recessive)" ""
"0000770590" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Hull 2020:32856788}" "" "c.4139C>T p.Pro1380Leu" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000770591" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Hull 2020:32856788}" "" "c.4139C>T p.Pro1380Leu" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000770592" "10" "90" "1" "94487503" "94496279" "delins" "0" "01695" "ABCA4_001770" "g.94487503_94496279delinsAAAAGC" "" "{PMID:Hull 2020:32856788}" "" "c.4254-197_4672delinsGCTTTT Loss of exons 29-32" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94021947_94030723delinsAAAAGC" "" "pathogenic (recessive)" ""
"0000770593" "0" "90" "1" "94496042" "94496048" "del" "0" "01695" "ABCA4_001830" "g.94496042_94496048del" "" "{PMID:Hull 2020:32856788}" "" "c.4288_4294del p.Leu1430Thrfs*4" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94030486_94030492del" "" "pathogenic (recessive)" ""
"0000770594" "11" "70" "1" "94495177" "94495177" "subst" "1.22342E-5" "01695" "ABCA4_000023" "g.94495177A>G" "" "{PMID:Hull 2020:32856788}" "" "c.4363T>C p.Cys1455Arg (paternal)" "" "Unknown" "yes" "" "0" "" "" "g.94029621A>G" "" "likely pathogenic (recessive)" ""
"0000770595" "0" "70" "1" "94495077" "94495077" "subst" "8.39461E-6" "01695" "ABCA4_000541" "g.94495077C>A" "" "{PMID:Hull 2020:32856788}" "" "c.4463G>T p.Cys1488Phe" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94029521C>A" "" "likely pathogenic (recessive)" ""
"0000770596" "0" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "" "{PMID:Hull 2020:32856788}" "" "c.4469G>A p.Cys1490Tyr" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94029515C>T" "" "likely pathogenic (recessive)" ""
"0000770597" "0" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "" "{PMID:Hull 2020:32856788}" "" "c.4469G>A p.Cys1490Tyr" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94029515C>T" "" "likely pathogenic (recessive)" ""
"0000770598" "0" "70" "1" "94490567" "94490567" "subst" "5.68528E-5" "01695" "ABCA4_000026" "g.94490567G>A" "" "{PMID:Hull 2020:32856788}" "" "c.4577C>T p.Thr1526Met" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94025011G>A" "" "likely pathogenic (recessive)" ""
"0000770599" "0" "70" "1" "94490567" "94490567" "subst" "5.68528E-5" "01695" "ABCA4_000026" "g.94490567G>A" "" "{PMID:Hull 2020:32856788}" "" "c.4577C>T p.Thr1526Met" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94025011G>A" "" "likely pathogenic (recessive)" ""
"0000770600" "3" "70" "1" "94476818" "94476818" "subst" "0" "01695" "ABCA4_001677" "g.94476818C>A" "" "{PMID:Hull 2020:32856788}" "" "c.5584G>T" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94011262C>A" "" "likely pathogenic (recessive)" ""
"0000770601" "3" "70" "1" "94463399" "94463413" "del" "0" "01695" "ABCA4_000851" "g.94463399_94463413del" "" "{PMID:Hull 2020:32856788}" "" "c.6729+5_19del15" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.93997843_93997857del" "" "likely pathogenic (recessive)" ""
"0000770602" "3" "70" "1" "94463399" "94463413" "del" "0" "01695" "ABCA4_000851" "g.94463399_94463413del" "" "{PMID:Hull 2020:32856788}" "" "c.6729+5_19del15" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.93997843_93997857del" "" "likely pathogenic (recessive)" ""
"0000770603" "0" "90" "1" "94473263" "94473263" "del" "0" "01695" "ABCA4_000388" "g.94473263del" "" "{PMID:Liu 2020:32845068}" "" "c.5935del" "" "Unknown" "yes" "" "0" "" "" "g.94007707del" "" "pathogenic (recessive)" ""
"0000770604" "0" "70" "1" "94463583" "94463583" "subst" "8.12183E-6" "01695" "ABCA4_000806" "g.94463583A>G" "" "{PMID:Liu 2020:32845068}" "" "c.6563T>C" "" "Unknown" "yes" "" "0" "" "" "g.93998027A>G" "" "likely pathogenic (recessive)" ""
"0000770605" "0" "90" "1" "94473188" "94473188" "subst" "0" "01695" "ABCA4_001631" "g.94473188A>G" "" "{PMID:Liu 2020:32845068}" "" "c.6005+2T>C" "no variant 2nd chromosome" "Unknown" "yes" "" "0" "" "" "g.94007632A>G" "" "pathogenic (recessive)" ""
"0000770606" "0" "90" "1" "94528874" "94528874" "subst" "0" "01695" "ABCA4_002110" "g.94528874C>A" "" "{PMID:Liu 2020:32845068}" "" "c.1555-1G>T" "" "Unknown" "yes" "" "0" "" "" "g.94063318C>A" "" "pathogenic (recessive)" ""
"0000770607" "0" "70" "1" "94481307" "94481307" "subst" "0" "01695" "ABCA4_000452" "g.94481307A>G" "" "{PMID:Liu 2020:32845068}" "" "c.5300T>C" "no variant 2nd chromosome" "Unknown" "yes" "" "0" "" "" "g.94015751A>G" "" "likely pathogenic (recessive)" ""
"0000770608" "0" "70" "1" "94476916" "94476916" "subst" "0" "01695" "ABCA4_001687" "g.94476916A>G" "" "{PMID:Liu 2020:32845068}" "" "c.5486T>C" "" "Unknown" "yes" "" "0" "" "" "g.94011360A>G" "" "likely pathogenic (recessive)" ""
"0000770609" "0" "90" "1" "94461664" "94461664" "subst" "4.06841E-6" "01695" "ABCA4_000860" "g.94461664C>T" "" "{PMID:Liu 2020:32845068}" "" "c.6816+1G>A" "no variant 2nd chromosome" "Unknown" "yes" "" "0" "" "" "g.93996108C>T" "" "pathogenic (recessive)" ""
"0000770610" "0" "90" "1" "94520830" "94520830" "subst" "0" "01695" "ABCA4_000727" "g.94520830G>C" "" "{PMID:Liu 2020:32845068}" "" "c.2424C>G" "" "Unknown" "yes" "" "0" "" "" "g.94055274G>C" "" "pathogenic (recessive)" ""
"0000770611" "0" "90" "1" "94528311" "94528311" "subst" "0" "01695" "ABCA4_001138" "g.94528311T>C" "" "{PMID:Liu 2020:32845068}" "" "c.1761-2A>G" "" "Unknown" "yes" "" "0" "" "" "g.94062755T>C" "" "pathogenic (recessive)" ""
"0000770612" "0" "90" "1" "94528251" "94528251" "subst" "2.84824E-5" "01695" "ABCA4_000281" "g.94528251C>T" "" "{PMID:Liu 2020:32845068}" "" "c.1819G>A" "" "Unknown" "yes" "" "0" "" "" "g.94062695C>T" "" "pathogenic (recessive)" ""
"0000770613" "0" "70" "1" "94544209" "94544209" "subst" "0" "01695" "ABCA4_002132" "g.94544209C>G" "" "{PMID:Liu 2020:32845068}" "" "c.1293G>C" "" "Unknown" "yes" "" "0" "" "" "g.94078653C>G" "" "likely pathogenic (recessive)" ""
"0000770614" "0" "70" "1" "94466660" "94466660" "subst" "0" "01695" "ABCA4_000845" "g.94466660T>A" "" "{PMID:Liu 2020:32845068}" "" "c.6284A>T" "" "Unknown" "yes" "" "0" "" "" "g.94001104T>A" "" "likely pathogenic (recessive)" ""
"0000770615" "0" "70" "1" "94467517" "94467517" "subst" "0" "01695" "ABCA4_000786" "g.94467517A>C" "" "{PMID:Liu 2020:32845068}" "" "c.6179T>G" "" "Unknown" "yes" "" "0" "" "" "g.94001961A>C" "" "likely pathogenic (recessive)" ""
"0000770616" "0" "70" "1" "94463583" "94463583" "subst" "8.12183E-6" "01695" "ABCA4_000806" "g.94463583A>G" "" "{PMID:Liu 2020:32845068}" "" "c.6563T>C" "" "Unknown" "yes" "" "0" "" "" "g.93998027A>G" "" "likely pathogenic (recessive)" ""
"0000770617" "0" "50" "1" "94466655" "94466655" "subst" "0" "01695" "ABCA4_000842" "g.94466655G>A" "" "{PMID:Liu 2020:32845068}" "" "c.6289C>T" "" "Unknown" "yes" "" "0" "" "" "g.94001099G>A" "" "VUS" ""
"0000770618" "0" "90" "1" "94497564" "94497564" "subst" "1.64383E-5" "01695" "ABCA4_000091" "g.94497564G>A" "" "{PMID:Liu 2020:32845068}" "" "c.3898C>T" "" "Unknown" "yes" "" "0" "" "" "g.94032008G>A" "" "pathogenic (recessive)" ""
"0000770619" "0" "70" "1" "94528178" "94528178" "subst" "4.06666E-6" "01695" "ABCA4_001312" "g.94528178C>A" "" "{PMID:Liu 2020:32845068}" "" "c.1892G>T" "" "Unknown" "yes" "" "0" "" "" "g.94062622C>A" "" "likely pathogenic (recessive)" ""
"0000770620" "3" "90" "1" "94544895" "94544895" "subst" "1.62455E-5" "01695" "ABCA4_000329" "g.94544895G>A" "" "{PMID:Liu 2020:32845068}" "" "c.1222C>T" "" "Unknown" "yes" "" "0" "" "" "g.94079339G>A" "" "pathogenic (recessive)" ""
"0000770621" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Liu 2020:32845068}" "" "c.5882G>A" "" "Unknown" "yes" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000770622" "0" "70" "1" "94466616" "94466616" "subst" "0" "01695" "ABCA4_001583" "g.94466616A>G" "" "{PMID:Liu 2020:32845068}" "" "c.6328T>C" "" "Unknown" "yes" "" "0" "" "" "g.94001060A>G" "" "likely pathogenic (recessive)" ""
"0000770623" "0" "90" "1" "94520830" "94520830" "subst" "0" "01695" "ABCA4_000727" "g.94520830G>C" "" "{PMID:Liu 2020:32845068}" "" "c.2424C>G" "" "Unknown" "yes" "" "0" "" "" "g.94055274G>C" "" "pathogenic (recessive)" ""
"0000770624" "0" "90" "1" "94485316" "94485316" "del" "0" "01695" "ABCA4_001735" "g.94485316del" "" "{PMID:Liu 2020:32845068}" "" "c.5019del" "" "Unknown" "yes" "" "0" "" "" "g.94019760del" "" "pathogenic (recessive)" ""
"0000770625" "0" "90" "1" "94487200" "94487200" "del" "0" "01695" "ABCA4_000873" "g.94487200del" "" "{PMID:Liu 2020:32845068}" "" "c.4845del" "" "Unknown" "yes" "" "0" "" "" "g.94021644del" "" "pathogenic (recessive)" ""
"0000770626" "0" "90" "1" "94490589" "94490589" "del" "0" "01695" "ABCA4_000526" "g.94490589del" "" "{PMID:Liu 2020:32845068}" "" "c.4555del" "" "Unknown" "yes" "" "0" "" "" "g.94025033del" "" "pathogenic (recessive)" ""
"0000770627" "0" "90" "1" "94495983" "94495983" "subst" "8.12348E-6" "01695" "ABCA4_000547" "g.94495983C>T" "" "{PMID:Liu 2020:32845068}" "" "c.4352+1G>A" "" "Unknown" "yes" "" "0" "" "" "g.94030427C>T" "" "pathogenic (recessive)" ""
"0000770628" "3" "70" "1" "94586549" "94586549" "subst" "0" "01695" "ABCA4_001329" "g.94586549C>G" "" "{PMID:Liu 2020:32845068}" "" "c.53G>C" "" "Unknown" "yes" "" "0" "" "" "g.94120993C>G" "" "likely pathogenic (recessive)" ""
"0000770629" "0" "70" "1" "94490567" "94490567" "subst" "5.68528E-5" "01695" "ABCA4_000026" "g.94490567G>A" "" "{PMID:Liu 2020:32845068}" "" "c.4577C>T" "" "Unknown" "yes" "" "0" "" "" "g.94025011G>A" "" "likely pathogenic (recessive)" ""
"0000770630" "0" "90" "1" "94528311" "94528311" "subst" "0" "01695" "ABCA4_001138" "g.94528311T>C" "" "{PMID:Liu 2020:32845068}" "" "c.1761-2A>G" "" "Unknown" "yes" "" "0" "" "" "g.94062755T>C" "" "pathogenic (recessive)" ""
"0000770631" "0" "90" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Liu 2020:32845068}" "" "c.2894A>G" "" "Unknown" "yes" "" "0" "" "" "g.94046943T>C" "" "pathogenic (recessive)" ""
"0000770632" "0" "70" "1" "94480232" "94480232" "subst" "0" "01695" "ABCA4_000444" "g.94480232G>A" "" "{PMID:Liu 2020:32845068}" "" "c.5327C>T" "" "Unknown" "yes" "" "0" "" "" "g.94014676G>A" "" "likely pathogenic (recessive)" ""
"0000770633" "0" "90" "1" "94473215" "94473215" "del" "0" "01695" "ABCA4_001634" "g.94473215del" "" "{PMID:Liu 2020:32845068}" "" "c.5983del" "" "Unknown" "yes" "" "0" "" "" "g.94007659del" "" "pathogenic (recessive)" ""
"0000770634" "0" "90" "1" "94485137" "94485137" "subst" "0" "01695" "ABCA4_000464" "g.94485137C>T" "" "{PMID:Liu 2020:32845068}" "" "c.5196+1G>A" "" "Unknown" "yes" "" "0" "" "" "g.94019581C>T" "" "pathogenic (recessive)" ""
"0000770635" "0" "70" "1" "94466627" "94466627" "subst" "4.06408E-6" "01695" "ABCA4_000867" "g.94466627C>T" "" "{PMID:Liu 2020:32845068}" "" "c.6317G>A" "" "Unknown" "yes" "" "0" "" "" "g.94001071C>T" "" "likely pathogenic (recessive)" ""
"0000770636" "0" "90" "1" "94497581" "94497582" "del" "0" "01695" "ABCA4_001862" "g.94497581_94497582del" "" "{PMID:Liu 2020:32845068}" "" "c.3883_3884del" "" "Unknown" "yes" "" "0" "" "" "g.94032025_94032026del" "" "pathogenic (recessive)" ""
"0000770637" "0" "90" "1" "94520830" "94520830" "subst" "0" "01695" "ABCA4_000727" "g.94520830G>C" "" "{PMID:Liu 2020:32845068}" "" "c.2424C>G" "" "Unknown" "yes" "" "0" "" "" "g.94055274G>C" "" "pathogenic (recessive)" ""
"0000770638" "0" "70" "1" "94543303" "94543303" "subst" "0" "01695" "ABCA4_002117" "g.94543303C>G" "" "{PMID:Liu 2020:32845068}" "" "c.1497G>C" "" "Unknown" "yes" "" "0" "" "" "g.94077747C>G" "" "likely pathogenic (recessive)" ""
"0000770639" "3" "90" "1" "94528714" "94528714" "subst" "0" "01695" "ABCA4_000296" "g.94528714G>A" "" "{PMID:Liu 2020:32845068}" "" "c.1714C>T" "" "Unknown" "yes" "" "0" "" "" "g.94063158G>A" "" "pathogenic (recessive)" ""
"0000770640" "0" "90" "1" "0" "0" "" "0" "01695" "NPHS2_000000" "g.?" "" "{PMID:Liu 2020:32845068}" "" "Duplication of exons 40-41" "" "Unknown" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000770641" "0" "90" "1" "94528311" "94528311" "subst" "0" "01695" "ABCA4_001138" "g.94528311T>C" "" "{PMID:Liu 2020:32845068}" "" "c.1761-2A>G" "" "Unknown" "yes" "" "0" "" "" "g.94062755T>C" "" "pathogenic (recessive)" ""
"0000770642" "0" "70" "1" "94463583" "94463583" "subst" "8.12183E-6" "01695" "ABCA4_000806" "g.94463583A>G" "" "{PMID:Liu 2020:32845068}" "" "c.6563T>C" "" "Unknown" "yes" "" "0" "" "" "g.93998027A>G" "" "likely pathogenic (recessive)" ""
"0000770643" "0" "90" "1" "94487269" "94487269" "subst" "0" "01695" "ABCA4_001755" "g.94487269C>T" "" "{PMID:Liu 2020:32845068}" "" "c.4775G>A" "" "Unknown" "yes" "" "0" "" "" "g.94021713C>T" "" "pathogenic (recessive)" ""
"0000770644" "0" "90" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Liu 2020:32845068}" "" "c.2894A>G" "" "Unknown" "yes" "" "0" "" "" "g.94046943T>C" "" "pathogenic (recessive)" ""
"0000770645" "3" "70" "1" "94577010" "94577010" "subst" "1.22004E-5" "01695" "ABCA4_000224" "g.94577010T>C" "" "{PMID:Melillo 2020:32821503}" "" "N96D;" "" "Unknown" "" "" "0" "" "" "g.94111454T>C" "" "likely pathogenic (recessive)" ""
"0000770646" "3" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Melillo 2020:32821503}" "" "G1961E;" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000770647" "0" "90" "1" "94495009" "94495009" "dup" "0" "01695" "ABCA4_000087" "g.94495009dup" "" "{PMID:Melillo 2020:32821503}" "" "4538insC;" "" "Unknown" "" "" "0" "" "" "g.94029453dup" "" "pathogenic (recessive)" ""
"0000770648" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Melillo 2020:32821503}" "" "G1961E;" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000770649" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Melillo 2020:32821503}" "" "G1961E;" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000770650" "0" "90" "1" "94564383" "94564383" "subst" "0" "01695" "ABCA4_000371" "g.94564383A>C" "" "{PMID:Melillo 2020:32821503}" "" "Y245X;" "" "Unknown" "" "" "0" "" "" "g.94098827A>C" "" "pathogenic (recessive)" ""
"0000770651" "0" "90" "1" "94577046" "94577049" "dup" "0" "01695" "ABCA4_000227" "g.94577046_94577049dup" "" "{PMID:Melillo 2020:32821503}" "" "250insCAAA;" "" "Unknown" "" "" "0" "" "" "g.94111490_94111493dup" "" "pathogenic (recessive)" ""
"0000770652" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Melillo 2020:32821503}" "" "G1961E;" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000770653" "3" "70" "1" "94577010" "94577010" "subst" "1.22004E-5" "01695" "ABCA4_000224" "g.94577010T>C" "" "{PMID:Melillo 2020:32821503}" "" "N96D;" "" "Unknown" "" "" "0" "" "" "g.94111454T>C" "" "likely pathogenic (recessive)" ""
"0000770654" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Melillo 2020:32821503}" "" "L541P/A1038V;" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000770655" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Melillo 2020:32821503}" "" "L541P/A1038V" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000770656" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Melillo 2020:32821503}" "" "L541P/A1038V" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000770657" "0" "50" "1" "94568686" "94568686" "subst" "0.00258122" "01695" "ABCA4_000212" "g.94568686C>T" "" "{PMID:Melillo 2020:32821503}" "" "R152Q;" "" "Unknown" "" "" "0" "" "" "g.94103130C>T" "" "VUS" ""
"0000770658" "1" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Jennings 2020:32810830}" "" "c.[768G>T];[6079C>T]" "" "Unknown" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000770659" "0" "70" "1" "94487251" "94487251" "subst" "2.85679E-5" "01695" "ABCA4_000490" "g.94487251G>T" "" "{PMID:Méjécase 2020:32783370}" "" "c.4793C>A p.(Ala1598Asp) Het" "" "Unknown" "" "" "0" "" "" "g.94021695G>T" "" "likely pathogenic (recessive)" ""
"0000770660" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Méjécase 2020:32783370}" "" "c.5714+5G>A Splice Het" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000770661" "0" "90" "1" "94497564" "94497564" "subst" "1.64383E-5" "01695" "ABCA4_000091" "g.94497564G>A" "" "{PMID:Méjécase 2020:32783370}" "" "c.3898C>T p.(Arg1300*) Het" "" "Unknown" "" "" "0" "" "" "g.94032008G>A" "" "pathogenic (recessive)" ""
"0000770662" "0" "90" "1" "94574256" "94574256" "subst" "2.8425E-5" "01695" "ABCA4_000040" "g.94574256G>A" "" "{PMID:Méjécase 2020:32783370}" "" "c.319C>T p.(Arg107*) Het" "" "Unknown" "" "" "0" "" "" "g.94108700G>A" "" "pathogenic (recessive)" ""
"0000770663" "0" "90" "1" "94528714" "94528714" "subst" "0" "01695" "ABCA4_000296" "g.94528714G>A" "" "{PMID:Méjécase 2020:32783370}" "" "c.1714C>T p.(Arg572*) Het" "" "Unknown" "" "" "0" "" "" "g.94063158G>A" "" "pathogenic (recessive)" ""
"0000770664" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Méjécase 2020:32783370}" "" "c.5714+5G>A Splice Het" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000770665" "3" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Méjécase 2020:32783370}" "" "c.5882G>A p.(Gly1961Glu) Hom" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000770666" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Méjécase 2020:32783370}" "" "c.5714+5G>A Splice Het" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000770667" "3" "70" "1" "94463399" "94463413" "del" "0" "01695" "ABCA4_000851" "g.94463399_94463413del" "" "{PMID:Méjécase 2020:32783370}" "" "c.6729+5_6729+19del p.(Phe2161Cysfs*3) Hom" "" "Unknown" "" "" "0" "" "" "g.93997843_93997857del" "" "likely pathogenic (recessive)" ""
"0000770668" "3" "70" "1" "94528818" "94528818" "subst" "0.00205975" "01695" "ABCA4_001239" "g.94528818C>T" "" "{PMID:Méjécase 2020:32783370}" "" "c.1610G>A p.(Arg537His) Hom" "" "Unknown" "" "" "0" "" "" "g.94063262C>T" "" "likely pathogenic (recessive)" ""
"0000770669" "3" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Méjécase 2020:32783370}" "" "c.5882G>A p.(Gly1961Glu) Hom" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000770670" "3" "70" "1" "94485196" "94485197" "delins" "0" "01695" "ABCA4_001727" "g.94485196_94485197delinsCT" "" "{PMID:Méjécase 2020:32783370}" "" "c.5137_5138delinsAG p.(Gln1713Arg) Hom" "" "Unknown" "" "" "0" "" "" "g.94019640_94019641delinsCT" "" "likely pathogenic (recessive)" ""
"0000770671" "0" "70" "1" "94564489" "94564489" "subst" "0" "01695" "ABCA4_002187" "g.94564489A>T" "" "{PMID:Müller 2020:32751377}{PMID:Gliem 2020:32646556}" "" "E6 c.629T>A (p.(Leu210Gln)" "" "Unknown" "" "" "0" "" "" "g.94098933A>T" "" "likely pathogenic (recessive)" ""
"0000770672" "0" "70" "1" "94473266" "94473266" "subst" "8.14677E-6" "01695" "ABCA4_000389" "g.94473266C>T" "" "{PMID:Coco-Martin 2020:32660024}" "" "p.Leu2027Phe/p.Gly1977Ser" "" "Unknown" "" "" "0" "" "" "g.94007710C>T" "" "likely pathogenic (recessive)" ""
"0000770673" "0" "70" "1" "94471055" "94471055" "subst" "0.00035346" "01695" "ABCA4_000029" "g.94471055C>T" "" "{PMID:Coco-Martin 2020:32660024}" "" "p.Arg2030Gln" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94005499C>T" "" "likely pathogenic (recessive)" ""
"0000770674" "0" "70" "1" "94484001" "94484001" "subst" "0" "01695" "ABCA4_000016" "g.94484001C>T" "" "{PMID:Khan 2020:32653833}" "" "c.5196+1137G>A p.[=,M1733Efs*78]" "" "Unknown" "" "" "0" "" "" "g.94018445C>T" "" "likely pathogenic (recessive)" ""
"0000770675" "0" "70" "1" "94484001" "94484001" "subst" "0" "01695" "ABCA4_000016" "g.94484001C>T" "" "{PMID:Khan 2020:32653833}" "" "c.5196+1137G>A p.[=,M1733Efs*78]" "" "Unknown" "yes" "" "0" "" "" "g.94018445C>T" "" "likely pathogenic (recessive)" ""
"0000770676" "0" "70" "1" "94484001" "94484001" "subst" "0" "01695" "ABCA4_000016" "g.94484001C>T" "" "{PMID:Khan 2020:32653833}" "" "c.5196+1137G>A p.[=,M1733Efs*78]" "" "Unknown" "yes" "" "0" "" "" "g.94018445C>T" "" "likely pathogenic (recessive)" ""
"0000770677" "0" "70" "1" "94484001" "94484001" "subst" "0" "01695" "ABCA4_000016" "g.94484001C>T" "" "{PMID:Khan 2020:32653833}" "" "c.5196+1137G>A p.[=,M1733Efs*78]" "" "Unknown" "" "" "0" "" "" "g.94018445C>T" "" "likely pathogenic (recessive)" ""
"0000770678" "0" "70" "1" "94484001" "94484001" "subst" "0" "01695" "ABCA4_000016" "g.94484001C>T" "" "{PMID:Khan 2020:32653833}" "" "c.5196+1137G>A p.[=,M1733Efs*78]" "" "Unknown" "" "" "0" "" "" "g.94018445C>T" "" "likely pathogenic (recessive)" ""
"0000770679" "0" "70" "1" "94484001" "94484001" "subst" "0" "01695" "ABCA4_000016" "g.94484001C>T" "" "{PMID:Khan 2020:32653833}" "" "c.5196+1137G>A p.[=,M1733Efs*78]" "" "Unknown" "" "" "0" "" "" "g.94018445C>T" "" "likely pathogenic (recessive)" ""
"0000770680" "0" "70" "1" "94484001" "94484001" "subst" "0" "01695" "ABCA4_000016" "g.94484001C>T" "" "{PMID:Khan 2020:32653833}" "" "c.5196+1137G>A p.[=,M1733Efs*78]" "" "Unknown" "yes" "" "0" "" "" "g.94018445C>T" "" "likely pathogenic (recessive)" ""
"0000770681" "0" "70" "1" "94484001" "94484001" "subst" "0" "01695" "ABCA4_000016" "g.94484001C>T" "" "{PMID:Khan 2020:32653833}" "" "c.5196+1137G>A p.[=,M1733Efs*78]" "" "Unknown" "yes" "" "0" "" "" "g.94018445C>T" "" "likely pathogenic (recessive)" ""
"0000770682" "0" "70" "1" "94484001" "94484001" "subst" "0" "01695" "ABCA4_000016" "g.94484001C>T" "" "{PMID:Khan 2020:32653833}" "" "c.5196+1137G>A p.[=,M1733Efs*78]" "" "Unknown" "yes" "" "0" "" "" "g.94018445C>T" "" "likely pathogenic (recessive)" ""
"0000770683" "0" "70" "1" "94484001" "94484001" "subst" "0" "01695" "ABCA4_000016" "g.94484001C>T" "" "{PMID:Khan 2020:32653833}" "" "c.5196+1137G>A p.[=,M1733Efs*78]" "" "Unknown" "yes" "" "0" "" "" "g.94018445C>T" "" "likely pathogenic (recessive)" ""
"0000770684" "0" "70" "1" "94484001" "94484001" "subst" "0" "01695" "ABCA4_000016" "g.94484001C>T" "" "{PMID:Khan 2020:32653833}" "" "c.5196+1137G>A p.[=,M1733Efs*78]" "" "Unknown" "" "" "0" "" "" "g.94018445C>T" "" "likely pathogenic (recessive)" ""
"0000770685" "0" "70" "1" "94484001" "94484001" "subst" "0" "01695" "ABCA4_000016" "g.94484001C>T" "" "{PMID:Khan 2020:32653833}" "" "c.5196+1137G>A p.[=,M1733Efs*78]" "" "Unknown" "yes" "" "0" "" "" "g.94018445C>T" "" "likely pathogenic (recessive)" ""
"0000770686" "0" "70" "1" "94484001" "94484001" "subst" "0" "01695" "ABCA4_000016" "g.94484001C>T" "" "{PMID:Khan 2020:32653833}" "" "c.5196+1137G>A p.[=,M1733Efs*78]" "" "Unknown" "yes" "" "0" "" "" "g.94018445C>T" "" "likely pathogenic (recessive)" ""
"0000770687" "0" "70" "1" "94484001" "94484001" "subst" "0" "01695" "ABCA4_000016" "g.94484001C>T" "" "{PMID:Khan 2020:32653833}" "" "c.5196+1137G>A p.[=,M1733Efs*78]" "" "Unknown" "yes" "" "0" "" "" "g.94018445C>T" "" "likely pathogenic (recessive)" ""
"0000770688" "0" "70" "1" "94484001" "94484001" "subst" "0" "01695" "ABCA4_000016" "g.94484001C>T" "" "{PMID:Khan 2020:32653833}" "" "c.5196+1137G>A p.[=,M1733Efs*78]" "" "Unknown" "yes" "" "0" "" "" "g.94018445C>T" "" "likely pathogenic (recessive)" ""
"0000770689" "0" "70" "1" "94484001" "94484001" "subst" "0" "01695" "ABCA4_000016" "g.94484001C>T" "" "{PMID:Khan 2020:32653833}" "" "c.5196+1137G>A p.[=,M1733Efs*78]" "" "Unknown" "yes" "" "0" "" "" "g.94018445C>T" "" "likely pathogenic (recessive)" ""
"0000770690" "0" "70" "1" "94484001" "94484001" "subst" "0" "01695" "ABCA4_000016" "g.94484001C>T" "" "{PMID:Khan 2020:32653833}" "" "c.5196+1137G>A p.[=,M1733Efs*78]" "" "Unknown" "" "" "0" "" "" "g.94018445C>T" "" "likely pathogenic (recessive)" ""
"0000770691" "0" "70" "1" "94484001" "94484001" "subst" "0" "01695" "ABCA4_000016" "g.94484001C>T" "" "{PMID:Khan 2020:32653833}" "" "c.5196+1137G>A p.[=,M1733Efs*78]" "" "Unknown" "" "" "0" "" "" "g.94018445C>T" "" "likely pathogenic (recessive)" ""
"0000770692" "0" "70" "1" "94484001" "94484001" "subst" "0" "01695" "ABCA4_000016" "g.94484001C>T" "" "{PMID:Khan 2020:32653833}" "" "c.5196+1137G>A p.[=,M1733Efs*78]" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94018445C>T" "" "likely pathogenic (recessive)" ""
"0000770693" "1" "90" "1" "94497336" "94497336" "subst" "0" "01695" "ABCA4_001848" "g.94497336G>A" "" "{PMID:Khan 2020:32653833}" "" "c.[4126C>T; 6148G>C]" "" "Unknown" "" "" "0" "" "" "g.94031780G>A" "" "pathogenic (recessive)" ""
"0000770694" "0" "70" "1" "94484001" "94484001" "subst" "0" "01695" "ABCA4_000016" "g.94484001C>T" "" "{PMID:Khan 2020:32653833}" "" "c.5196+1137G>A p.[=,M1733Efs*78]" "" "Unknown" "" "" "0" "" "" "g.94018445C>T" "" "likely pathogenic (recessive)" ""
"0000770695" "0" "70" "1" "94484001" "94484001" "subst" "0" "01695" "ABCA4_000016" "g.94484001C>T" "" "{PMID:Khan 2020:32653833}" "" "c.5196+1137G>A p.[=,M1733Efs*78]" "" "Unknown" "yes" "" "0" "" "" "g.94018445C>T" "" "likely pathogenic (recessive)" ""
"0000770696" "0" "70" "1" "94484001" "94484001" "subst" "0" "01695" "ABCA4_000016" "g.94484001C>T" "" "{PMID:Khan 2020:32653833}" "" "c.5196+1137G>A p.[=,M1733Efs*78]" "" "Unknown" "yes" "" "0" "" "" "g.94018445C>T" "" "likely pathogenic (recessive)" ""
"0000770697" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Gliem 2020:32646556}" "" "het c.1622T>C p.Leu541Pro" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000770698" "0" "90" "1" "94544158" "94544158" "del" "0" "01695" "ABCA4_000315" "g.94544158del" "" "{PMID:Gliem 2020:32646556}" "" "het c.1334del p.Met448Ilefs*" "" "Unknown" "" "" "0" "" "" "g.94078602del" "" "pathogenic (recessive)" ""
"0000770699" "0" "90" "1" "94544158" "94544158" "del" "0" "01695" "ABCA4_000315" "g.94544158del" "" "{PMID:Gliem 2020:32646556}" "" "het c.1334del p.Met448Ilefs*" "" "Unknown" "" "" "0" "" "" "g.94078602del" "" "pathogenic (recessive)" ""
"0000770700" "3" "70" "1" "94461735" "94461735" "subst" "0" "01695" "ABCA4_001414" "g.94461735G>T" "" "{PMID:Gliem 2020:32646556}" "" "hom c.6746C>A p.Ala2249Asp" "" "Unknown" "" "" "0" "" "" "g.93996179G>T" "" "likely pathogenic (recessive)" ""
"0000770701" "0" "70" "1" "94487251" "94487251" "subst" "2.85679E-5" "01695" "ABCA4_000490" "g.94487251G>T" "" "{PMID:Gliem 2020:32646556}" "" "het c.4793C>A p.Ala1598Asp" "" "Unknown" "" "" "0" "" "" "g.94021695G>T" "" "likely pathogenic (recessive)" ""
"0000770702" "0" "90" "1" "94526212" "94526212" "subst" "1.22012E-5" "01695" "ABCA4_000075" "g.94526212G>A" "" "{PMID:Gliem 2020:32646556}" "" "het c.2041C>T p.Arg681*" "" "Unknown" "" "" "0" "" "" "g.94060656G>A" "" "pathogenic (recessive)" ""
"0000770703" "0" "90" "1" "94496571" "94496571" "subst" "4.06174E-6" "01695" "ABCA4_000111" "g.94496571G>A" "" "{PMID:Gliem 2020:32646556}" "" "het c.4234C>T p.Glu1412*" "" "Unknown" "" "" "0" "" "" "g.94031015G>A" "" "pathogenic (recessive)" ""
"0000770704" "0" "90" "1" "94517216" "94517216" "subst" "0" "01695" "ABCA4_001429" "g.94517216G>A" "" "{PMID:Gliem 2020:32646556}" "" "het c.2626C>T p.Gln876*" "" "Unknown" "" "" "0" "" "" "g.94051660G>A" "" "pathogenic (recessive)" ""
"0000770705" "0" "70" "1" "94520705" "94520705" "subst" "0" "01695" "ABCA4_000714" "g.94520705T>C" "" "{PMID:Gliem 2020:32646556}" "" "het c.2549A>G p.Tyr850Cys" "" "Unknown" "" "" "0" "" "" "g.94055149T>C" "" "likely pathogenic (recessive)" ""
"0000770706" "0" "90" "1" "94508986" "94508986" "del" "0" "01695" "ABCA4_001428" "g.94508986del" "" "{PMID:Gliem 2020:32646556}" "" "het c.3098del p.Lys1033Serfs*51" "" "Unknown" "" "" "0" "" "" "g.94043430del" "" "pathogenic (recessive)" ""
"0000770707" "0" "90" "1" "94544196" "94544196" "del" "0" "01695" "ABCA4_000318" "g.94544196del" "" "{PMID:Gliem 2020:32646556}" "" "het c.1309del p.Gln437Argfs*12" "" "Unknown" "" "" "0" "" "" "g.94078640del" "" "pathogenic (recessive)" ""
"0000770708" "0" "90" "1" "94496571" "94496571" "subst" "4.06174E-6" "01695" "ABCA4_000111" "g.94496571G>A" "" "{PMID:Gliem 2020:32646556}" "" "het c.4234C>T p.Gln412Tyr" "" "Unknown" "" "" "0" "" "" "g.94031015G>A" "" "pathogenic (recessive)" ""
"0000770709" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Gliem 2020:32646556}" "" "het c.5882G>A p.Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000770710" "0" "90" "1" "94496571" "94496571" "subst" "4.06174E-6" "01695" "ABCA4_000111" "g.94496571G>A" "" "{PMID:Gliem 2020:32646556}" "" "het c.4234C>T p.Glu1412*" "" "Unknown" "" "" "0" "" "" "g.94031015G>A" "" "pathogenic (recessive)" ""
"0000770711" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Gliem 2020:32646556}" "" "het c.1622T>C p.Leu541Pro" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000770712" "0" "90" "1" "94508433" "94508433" "subst" "8.12209E-6" "01695" "ABCA4_000151" "g.94508433G>A" "" "{PMID:Gliem 2020:32646556}" "" "het c.3212C>T p.Ser1071Leu" "" "Unknown" "" "" "0" "" "" "g.94042877G>A" "" "pathogenic (recessive)" ""
"0000770713" "0" "70" "1" "94476893" "94476893" "subst" "4.0624E-6" "01695" "ABCA4_001418" "g.94476893G>T" "" "{PMID:Gliem 2020:32646556}" "" "het c.5509C>A p.Pro1837Thr" "" "Unknown" "" "" "0" "" "" "g.94011337G>T" "" "likely pathogenic (recessive)" ""
"0000770714" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Gliem 2020:32646556}" "" "het c.2588G>C p.Gly863Ala" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000770715" "0" "90" "1" "94544148" "94544148" "dup" "0" "01695" "ABCA4_002128" "g.94544148dup" "" "{PMID:Gliem 2020:32646556}" "" "het c.1354dup p.Tyr452Leufs*13" "" "Unknown" "" "" "0" "" "" "g.94078592dup" "" "pathogenic (recessive)" ""
"0000770716" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Gliem 2020:32646556}" "" "het c.5714+5G>A splice_site" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000770717" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Gliem 2020:32646556}" "" "het c.5461-10T>C splice_site" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000770718" "0" "90" "1" "94508433" "94508433" "subst" "8.12209E-6" "01695" "ABCA4_000151" "g.94508433G>A" "" "{PMID:Gliem 2020:32646556}" "" "het c.3212C>T p.Ser1071Leu" "" "Unknown" "" "" "0" "" "" "g.94042877G>A" "" "pathogenic (recessive)" ""
"0000770719" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Gliem 2020:32646556}" "" "het c.768G>T splice_site" "" "Unknown" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000770720" "0" "90" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Gliem 2020:32646556}" "" "het c.634C>T p.Arg212Cys" "" "Unknown" "" "" "0" "" "" "g.94098928G>A" "" "pathogenic (recessive)" ""
"0000770721" "0" "70" "1" "94544249" "94544249" "subst" "8.12196E-6" "01695" "ABCA4_000323" "g.94544249A>G" "" "{PMID:Gliem 2020:32646556}" "" "het c.1253T>C p.Phe418Ser" "" "Unknown" "" "" "0" "" "" "g.94078693A>G" "" "likely pathogenic (recessive)" ""
"0000770722" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Gliem 2020:32646556}" "" "het c.5882G>A p.Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000770723" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Gliem 2020:32646556}" "" "het c.768G>T splice_site" "" "Unknown" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000770724" "0" "70" "1" "94471055" "94471055" "subst" "0.00035346" "01695" "ABCA4_000029" "g.94471055C>T" "" "{PMID:Gliem 2020:32646556}" "" "het c.6089G>A p.Arg2030Gln" "" "Unknown" "" "" "0" "" "" "g.94005499C>T" "" "likely pathogenic (recessive)" ""
"0000770725" "0" "90" "1" "94544196" "94544196" "del" "0" "01695" "ABCA4_000318" "g.94544196del" "" "{PMID:Gliem 2020:32646556}" "" "het c.1309del p.Gln437Argfs*12" "" "Unknown" "" "" "0" "" "" "g.94078640del" "" "pathogenic (recessive)" ""
"0000770726" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Gliem 2020:32646556}" "" "het c.1622T>C p.Leu541Pro" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000770727" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Gliem 2020:32646556}" "" "het c.5603A>T p.Asn1868Ile" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000770728" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Gliem 2020:32646556}" "" "het c.1622T>A p.Leu541Pro" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000770729" "0" "70" "1" "94528263" "94528263" "subst" "0" "01695" "ABCA4_001348" "g.94528263A>G" "" "{PMID:Gliem 2020:32646556}" "" "het c.1807T>C p.Tyr603His" "" "Unknown" "" "" "0" "" "" "g.94062707A>G" "" "likely pathogenic (recessive)" ""
"0000770730" "0" "70" "1" "94471032" "94471032" "subst" "1.62553E-5" "01695" "ABCA4_000792" "g.94471032G>A" "" "{PMID:Gliem 2020:32646556}" "" "het c.6112C>T p.Arg2038Trp" "" "Unknown" "" "" "0" "" "" "g.94005476G>A" "" "likely pathogenic (recessive)" ""
"0000770731" "0" "70" "1" "94528248" "94528248" "subst" "1.22148E-5" "01695" "ABCA4_000279" "g.94528248A>T" "" "{PMID:Gliem 2020:32646556}" "" "het c.1822T>A p.Phe608Ile" "" "Unknown" "" "" "0" "" "" "g.94062692A>T" "" "likely pathogenic (recessive)" ""
"0000770732" "0" "90" "1" "94508991" "94508991" "del" "0" "01695" "ABCA4_001953" "g.94508991del" "" "{PMID:Gliem 2020:32646556}" "" "het c.3093del p.Gly1032Glufs*52" "" "Unknown" "" "" "0" "" "" "g.94043435del" "" "pathogenic (recessive)" ""
"0000770733" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Gliem 2020:32646556}" "" "het c.5714+5G>A splice_site" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000770734" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Gliem 2020:32646556}" "" "het c.5882G>A p.Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000770735" "0" "90" "1" "94577090" "94577090" "subst" "0" "01695" "ABCA4_000233" "g.94577090C>T" "" "{PMID:Gliem 2020:32646556}" "" "het c.206G>A p.Trp69*" "" "Unknown" "" "" "0" "" "" "g.94111534C>T" "" "pathogenic (recessive)" ""
"0000770736" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Gliem 2020:32646556}" "" "het c.5714+5G>A splice_site" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000770737" "0" "90" "1" "94508384" "94508384" "subst" "0" "01695" "ABCA4_000641" "g.94508384T>G" "" "{PMID:Gliem 2020:32646556}" "" "het c.3261A>C p.Glu1087Asp" "" "Unknown" "" "" "0" "" "" "g.94042828T>G" "" "pathogenic (recessive)" ""
"0000770738" "0" "90" "1" "94517254" "94517254" "subst" "4.06478E-6" "01695" "ABCA4_000158" "g.94517254C>T" "" "{PMID:Gliem 2020:32646556}" "" "het c.2588G>A p.Gly863Ala" "" "Unknown" "" "" "0" "" "" "g.94051698C>T" "" "pathogenic (recessive)" ""
"0000770739" "0" "70" "1" "94476890" "94476890" "subst" "4.06227E-6" "01695" "ABCA4_000434" "g.94476890G>C" "" "{PMID:Gliem 2020:32646556}" "" "het c.5512C>G p.His1838Asp" "" "Unknown" "" "" "0" "" "" "g.94011334G>C" "" "likely pathogenic (recessive)" ""
"0000770740" "0" "50" "1" "94528774" "94528774" "subst" "0.00264827" "01695" "ABCA4_000298" "g.94528774C>T" "" "{PMID:Gliem 2020:32646556}" "" "het c.1654G>A p.Val552Ile" "" "Unknown" "" "" "0" "" "" "g.94063218C>T" "" "VUS" ""
"0000770741" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Gliem 2020:32646556}" "" "het c.5603A>T p.Asn1868Ile" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000770742" "0" "70" "1" "94476890" "94476890" "subst" "4.06227E-6" "01695" "ABCA4_000434" "g.94476890G>C" "" "{PMID:Gliem 2020:32646556}" "" "het c.5512C>G p.His1838Asp" "" "Unknown" "" "" "0" "" "" "g.94011334G>C" "" "likely pathogenic (recessive)" ""
"0000770743" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Gliem 2020:32646556}" "" "het c.1622T>C p.Leu541Pro" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000770744" "0" "90" "1" "94508316" "94510301" "del" "0" "01695" "ABCA4_000041" "g.(94506959_94508316)_(94510301_94512474)del" "" "{PMID:Gliem 2020:32646556}" "" "het Deletion_of_exons_20-22 putative_loss_of_function" "" "Unknown" "" "" "0" "" "" "g.(94041403_94042760)_(94044745_94046918)del" "" "pathogenic (recessive)" ""
"0000770745" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Gliem 2020:32646556}" "" "het c.3113C>T p.Ala1038Val" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000770746" "0" "90" "1" "94485136" "94485136" "subst" "0" "01695" "ABCA4_000189" "g.94485136A>G" "" "{PMID:Gliem 2020:32646556}" "" "het c.5196+2T>C splice_site" "" "Unknown" "" "" "0" "" "" "g.94019580A>G" "" "pathogenic (recessive)" ""
"0000770747" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Gliem 2020:32646556}" "" "het c.1622T>C p.Leu541Pro" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000770748" "0" "90" "1" "94568671" "94568671" "subst" "0" "01695" "ABCA4_000947" "g.94568671A>T" "" "{PMID:Gliem 2020:32646556}" "" "het c.470T>A p.Leu157*" "" "Unknown" "" "" "0" "" "" "g.94103115A>T" "" "pathogenic (recessive)" ""
"0000770749" "0" "90" "1" "94474381" "94474382" "dup" "0" "01695" "ABCA4_000409" "g.94474381_94474382dup" "" "{PMID:Gliem 2020:32646556}" "" "het c.5762_5763dup p.Ala1922Trpfs*18" "" "Unknown" "" "" "0" "" "" "g.94008825_94008826dup" "" "pathogenic (recessive)" ""
"0000770750" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Gliem 2020:32646556}" "" "het c.5882G>A p.Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000770751" "3" "90" "1" "94485162" "94485162" "subst" "0" "01695" "ABCA4_001419" "g.94485162C>T" "" "{PMID:Gliem 2020:32646556}" "" "hom c.5172G>A p.Trp1724*" "" "Unknown" "" "" "0" "" "" "g.94019606C>T" "" "pathogenic (recessive)" ""
"0000770752" "1" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Gliem 2020:32646556}" "" "het c.2588G>C p.Gly863Ala" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000770753" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Gliem 2020:32646556}" "" "het c.5603A>T p.Asn1868Ile" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000770754" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Gliem 2020:32646556}" "" "het c.1622T>C p.Leu541Pro" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000770755" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Gliem 2020:32646556}" "" "het c.768G>T splice_site" "" "Unknown" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000770756" "0" "50" "1" "94480338" "94483658" "del" "0" "01695" "ABCA4_001704" "g.94480338_94483658del" "" "{PMID:Gliem 2020:32646556}" "" "het c.5196+1483_c.5313-89del3321bp p.Asn1734fs*14" "" "Unknown" "" "" "0" "" "" "g.94014782_94018102del" "" "VUS" ""
"0000770757" "0" "50" "1" "94520853" "94520853" "subst" "8.14783E-6" "01695" "ABCA4_000729" "g.94520853C>T" "" "{PMID:Gliem 2020:32646556}" "" "het c.2401G>A p.Ala801Thr" "" "Unknown" "" "" "0" "" "" "g.94055297C>T" "" "VUS" ""
"0000770758" "0" "70" "1" "94495072" "94495072" "subst" "0" "01695" "ABCA4_001422" "g.94495072A>G" "" "{PMID:Gliem 2020:32646556}" "" "het c.4468T>C p.Cys1490Arg" "" "Unknown" "" "" "0" "" "" "g.94029516A>G" "" "likely pathogenic (recessive)" ""
"0000770759" "0" "90" "1" "94586536" "94586536" "subst" "0" "01695" "ABCA4_000255" "g.94586536C>T" "" "{PMID:Gliem 2020:32646556}" "" "het c.66G>A splice_site" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94120980C>T" "" "pathogenic (recessive)" ""
"0000770760" "3" "70" "1" "94461735" "94461735" "subst" "0" "01695" "ABCA4_001414" "g.94461735G>T" "" "{PMID:Gliem 2020:32646556}" "" "hom c.6746C>A p.Ala2249Asp" "" "Unknown" "" "" "0" "" "" "g.93996179G>T" "" "likely pathogenic (recessive)" ""
"0000770761" "0" "70" "1" "94487251" "94487251" "subst" "2.85679E-5" "01695" "ABCA4_000490" "g.94487251G>T" "" "{PMID:Gliem 2020:32646556}" "" "hom c.4793C>A p.Ala1598Asp" "" "Unknown" "" "" "0" "" "" "g.94021695G>T" "" "likely pathogenic (recessive)" ""
"0000770762" "0" "90" "1" "94496571" "94496571" "subst" "4.06174E-6" "01695" "ABCA4_000111" "g.94496571G>A" "" "{PMID:Gliem 2020:32646556}" "" "het c.4234C>T p.Gln1412*" "" "Unknown" "" "" "0" "" "" "g.94031015G>A" "" "pathogenic (recessive)" ""
"0000770763" "0" "90" "1" "94508435" "94508436" "dup" "0" "01695" "ABCA4_000998" "g.94508435_94508436dup" "" "{PMID:Gliem 2020:32646556}" "" "het c.3210_3211dup p.Ser1071Cysfs*14" "" "Unknown" "" "" "0" "" "" "g.94042879_94042880dup" "" "pathogenic (recessive)" ""
"0000770764" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Gliem 2020:32646556}" "" "het c.2588G>C p.Gly863Ala" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000770765" "0" "50" "1" "94520853" "94520853" "subst" "8.14783E-6" "01695" "ABCA4_000729" "g.94520853C>T" "" "{PMID:Gliem 2020:32646556}" "" "het c.2401G>A p.Ala801Thr" "" "Unknown" "" "" "0" "" "" "g.94055297C>T" "" "VUS" ""
"0000770766" "0" "70" "1" "94471055" "94471055" "subst" "0.00035346" "01695" "ABCA4_000029" "g.94471055C>T" "" "{PMID:Gliem 2020:32646556}" "" "het c.6089G>A p.Arg2030Gln" "" "Unknown" "" "" "0" "" "" "g.94005499C>T" "" "likely pathogenic (recessive)" ""
"0000770767" "0" "70" "1" "94476890" "94476890" "subst" "4.06227E-6" "01695" "ABCA4_000434" "g.94476890G>C" "" "{PMID:Gliem 2020:32646556}" "" "het c.5512C>G p.His1838Asp" "" "Unknown" "" "" "0" "" "" "g.94011334G>C" "" "likely pathogenic (recessive)" ""
"0000770768" "0" "70" "1" "94471055" "94471055" "subst" "0.00035346" "01695" "ABCA4_000029" "g.94471055C>T" "" "{PMID:Gliem 2020:32646556}" "" "het c.6089G>A p.Arg2030Gln" "" "Unknown" "" "" "0" "" "" "g.94005499C>T" "" "likely pathogenic (recessive)" ""
"0000770769" "0" "90" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Gliem 2020:32646556}" "" "het c.634C>T p.Arg212Cys" "" "Unknown" "" "" "0" "" "" "g.94098928G>A" "" "pathogenic (recessive)" ""
"0000770770" "0" "50" "1" "94568686" "94568686" "subst" "0.00258122" "01695" "ABCA4_000212" "g.94568686C>T" "" "{PMID:Gliem 2020:32646556}" "" "het c.455G>A p.Arg152Gln" "" "Unknown" "" "" "0" "" "" "g.94103130C>T" "" "VUS" ""
"0000770771" "0" "70" "1" "94577010" "94577010" "subst" "1.22004E-5" "01695" "ABCA4_000224" "g.94577010T>C" "" "{PMID:Gliem 2020:32646556}" "" "het c.286A>G p.Asn96Asp" "" "Unknown" "" "" "0" "" "" "g.94111454T>C" "" "likely pathogenic (recessive)" ""
"0000770772" "0" "90" "1" "94497396" "94497396" "subst" "0" "01695" "ABCA4_001291" "g.94497396G>A" "" "{PMID:Gliem 2020:32646556}" "" "het c.4066C>T p.Gln1356*" "" "Unknown" "" "" "0" "" "" "g.94031840G>A" "" "pathogenic (recessive)" ""
"0000770773" "0" "70" "1" "94495989" "94495989" "subst" "8.12229E-6" "01695" "ABCA4_001090" "g.94495989C>A" "" "{PMID:Gliem 2020:32646556}" "" "het c.4347G>T p.Trp1449Cys" "" "Unknown" "" "" "0" "" "" "g.94030433C>A" "" "likely pathogenic (recessive)" ""
"0000770774" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Gliem 2020:32646556}" "" "het c.3322C>T p.Arg1108Cys" "" "Unknown" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000770775" "0" "90" "1" "94564374" "94564377" "del" "0" "01695" "ABCA4_001439" "g.94564374_94564377del" "" "{PMID:Gliem 2020:32646556}" "" "het c.741_744del p.Asn247Lysfs*14" "" "Unknown" "" "" "0" "" "" "g.94098818_94098821del" "" "pathogenic (recessive)" ""
"0000770776" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Gliem 2020:32646556}" "" "het c.5882G>A p.Gly1961Gln" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000770777" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Gliem 2020:32646556}" "" "het c.3113C>T p.Ala1038Val" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000770778" "0" "70" "1" "94486896" "94486896" "subst" "3.65562E-5" "01695" "ABCA4_000085" "g.94486896G>A" "" "{PMID:Gliem 2020:32646556}" "" "het c.4918C>T p.Arg1640Trp" "" "Unknown" "" "" "0" "" "" "g.94021340G>A" "" "likely pathogenic (recessive)" ""
"0000770779" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Gliem 2020:32646556}" "" "het c.3113C>T p.Ala1038Val" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000770780" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Gliem 2020:32646556}" "" "het c.5461-10T>C splice_site" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000770781" "0" "70" "1" "94543389" "94543389" "subst" "0" "01695" "ABCA4_001436" "g.94543389C>G" "" "{PMID:Gliem 2020:32646556}" "" "het c.1411G>C p.Glu471Lys" "" "Unknown" "" "" "0" "" "" "g.94077833C>G" "" "likely pathogenic (recessive)" ""
"0000770782" "0" "70" "1" "94546261" "94546261" "subst" "0.000648567" "01695" "ABCA4_000353" "g.94546261G>A" "" "{PMID:Gliem 2020:32646556}" "" "het c.872C>T p.Pro291Leu" "" "Unknown" "" "" "0" "" "" "g.94080705G>A" "" "likely pathogenic (recessive)" ""
"0000770783" "0" "70" "1" "94577082" "94577082" "subst" "2.84315E-5" "01695" "ABCA4_000232" "g.94577082C>T" "" "{PMID:Gliem 2020:32646556}" "" "het c.214G>A p.Gly72Arg" "" "Unknown" "" "" "0" "" "" "g.94111526C>T" "" "likely pathogenic (recessive)" ""
"0000770784" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Gliem 2020:32646556}" "" "het c.768G>T splice_site" "" "Unknown" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000770785" "0" "90" "1" "94497591" "94497591" "subst" "0" "01695" "ABCA4_000587" "g.94497591G>A" "" "{PMID:Gliem 2020:32646556}" "" "het c.3871C>T p.Gln1291*" "" "Unknown" "" "" "0" "" "" "g.94032035G>A" "" "pathogenic (recessive)" ""
"0000770786" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Gliem 2020:32646556}" "" "het c.2588G>C p.Gly863Ala" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000770787" "0" "90" "1" "94508316" "94510301" "del" "0" "01695" "ABCA4_000041" "g.(94506959_94508316)_(94510301_94512474)del" "" "{PMID:Gliem 2020:32646556}" "" "het Deletion_of_exons-20-22 putative_loss_of_function" "" "Unknown" "" "" "0" "" "" "g.(94041403_94042760)_(94044745_94046918)del" "" "pathogenic (recessive)" ""
"0000770788" "0" "90" "1" "94485145" "94485145" "subst" "0" "01695" "ABCA4_001015" "g.94485145C>T" "" "{PMID:Gliem 2020:32646556}" "" "het c.5189GT" "" "pathogenic (recessive)" ""
"0000770789" "0" "50" "1" "94528278" "94528278" "subst" "8.14571E-5" "01695" "ABCA4_000286" "g.94528278C>T" "" "{PMID:Gliem 2020:32646556}" "" "het c.1792G>A p.Val598Met" "" "Unknown" "" "" "0" "" "" "g.94062722C>T" "" "VUS" ""
"0000770790" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Gliem 2020:32646556}" "" "het c.5603A>T p.Asn1868Ile" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000770791" "0" "70" "1" "94586550" "94586550" "subst" "1.21864E-5" "01695" "ABCA4_000037" "g.94586550G>A" "" "{PMID:Gliem 2020:32646556}" "" "het c.52C>T p.Arg18Trp" "" "Unknown" "" "" "0" "" "" "g.94120994G>A" "" "likely pathogenic (recessive)" ""
"0000770792" "3" "70" "1" "94528154" "94528154" "subst" "0" "01695" "ABCA4_002071" "g.94528154T>C" "" "{PMID:Habibi 2020:32641690}" "" "c.[1916A>G];[1916A>G] p.[Y639C];[Y639C]" "" "Unknown" "" "" "0" "" "" "g.94062598T>C" "" "likely pathogenic (recessive)" ""
"0000770793" "3" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Habibi 2020:32641690}" "" "c.[4139C>T];[4139C>T] p.[P1380L];[P1380L]" "" "Unknown" "yes" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000770794" "3" "50" "1" "94544977" "94544977" "subst" "0.000544432" "01695" "ABCA4_000332" "g.94544977A>T" "" "{PMID:Habibi 2020:32641690}" "" "c.[1140T>A];[1140T>A] p.[N380K];[N380K]" "" "Unknown" "" "" "0" "" "" "g.94079421A>T" "" "VUS" ""
"0000770795" "3" "90" "1" "94508386" "94508386" "subst" "1.62443E-5" "01695" "ABCA4_000642" "g.94508386C>T" "" "{PMID:Habibi 2020:32641690}" "" "c.[3259G>A];[3259G>A] p.[E1087K];[E1087K]" "" "Unknown" "" "" "0" "" "" "g.94042830C>T" "" "pathogenic (recessive)" ""
"0000770796" "11" "70" "1" "94492973" "94492973" "subst" "0" "01695" "ABCA4_000030" "g.94492973G>A" "" "{PMID:Huang 2020:32627976}" "" "V1: c.4539+2028C>T" "" "Unknown" "" "" "0" "" "" "g.94027417G>A" "" "likely pathogenic (recessive)" ""
"0000770797" "11" "70" "1" "94492973" "94492973" "subst" "0" "01695" "ABCA4_000030" "g.94492973G>A" "" "{PMID:Huang 2020:32627976}" "" "V1: c.4539+2028C>T" "" "Unknown" "" "" "0" "" "" "g.94027417G>A" "" "likely pathogenic (recessive)" ""
"0000770798" "11" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Huang 2020:32627976}" "" "V2: c.5603A>T" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000770799" "11" "90" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Hu 2020:32534057}" "" "c.6320G>A p.(Arg2107His) Exon46 Het" "" "Germline" "yes" "" "0" "" "" "g.94001068C>T" "" "pathogenic (recessive)" ""
"0000770800" "11" "70" "1" "94481391" "94481391" "subst" "0" "01695" "ABCA4_001713" "g.94481391G>T" "" "{PMID:Hu 2020:32534057}" "" "c.5216C>A p.(Ala1739Asp) Exon37 Het" "" "Germline" "yes" "" "0" "" "" "g.94015835G>T" "" "likely pathogenic (recessive)" ""
"0000770801" "11" "50" "1" "94467506" "94467506" "subst" "3.24913E-5" "01695" "ABCA4_000785" "g.94467506C>T" "" "{PMID:Hu 2020:32534057}" "" "c.6190G>A p.(Ala2064Thr) Exon45 Het" "" "Germline" "yes" "" "0" "" "" "g.94001950C>T" "" "VUS" ""
"0000770802" "11" "90" "1" "94522243" "94522243" "dup" "0" "01695" "ABCA4_002043" "g.94522243dup" "" "{PMID:Hu 2020:32534057}" "" "c.2297_2298insG p.(Val767Cysfs*23) Exon15 Het" "" "Germline" "yes" "" "0" "" "" "g.94056687dup" "" "pathogenic (recessive)" ""
"0000770803" "3" "90" "1" "94486908" "94486917" "del" "0" "01695" "ABCA4_001742" "g.94486908_94486917del" "" "{PMID:Hu 2020:32534057}" "" "c.4897_4906del p.(Val1633Thrfs*26) Exon35 Hom" "" "Germline" "yes" "" "0" "" "" "g.94021352_94021361del" "" "pathogenic (recessive)" ""
"0000770804" "11" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Hu 2020:32534057}" "" "c.5882G>A p.(Gly1961Glu) Exon42 Het" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000770805" "0" "70" "1" "94496548" "94496548" "subst" "2.43787E-5" "01695" "ABCA4_000088" "g.94496548G>A" "" "{PMID:Hu 2020:32534057}{PMID:Hu 2019:31543898}" "" "c.4253 + 4C>T# p.? Intron29 Het" "de novo variant" "De novo" "yes" "" "0" "" "" "g.94030992G>A" "" "likely pathogenic (recessive)" ""
"0000770806" "21" "50" "1" "94467506" "94467506" "subst" "3.24913E-5" "01695" "ABCA4_000785" "g.94467506C>T" "" "{PMID:Hu 2020:32534057}" "" "c.6190G>A p.(Ala2064Thr) Exon45 Het" "" "Germline" "yes" "" "0" "" "" "g.94001950C>T" "" "VUS" ""
"0000770807" "21" "70" "1" "94463583" "94463583" "subst" "8.12183E-6" "01695" "ABCA4_000806" "g.94463583A>G" "" "{PMID:Hu 2020:32534057}" "" "c.6563 T>C p.(Phe2188Ser) Exon48 Het" "" "Germline" "yes" "" "0" "" "" "g.93998027A>G" "" "likely pathogenic (recessive)" ""
"0000770808" "1" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Green 2020:32467599}" "" "c.[5714+5G>A];[4163T>C]" "" "Germline" "yes" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000770809" "1" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Green 2020:32467599}" "" "c.[5714+5G>A];[4163T>C]" "" "Germline" "yes" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000770810" "0" "70" "1" "94490567" "94490567" "subst" "5.68528E-5" "01695" "ABCA4_000026" "g.94490567G>A" "" "{PMID:Green 2020:32467599}" "" "c.4577C>T(;)4163T>C" "" "Germline" "" "" "0" "" "" "g.94025011G>A" "" "likely pathogenic (recessive)" ""
"0000770811" "1" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Green 2020:32467599}" "" "c.[5714+5G>A];[67-1delG]" "" "Germline" "yes" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000770812" "1" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Green 2020:32467599}" "" "c.[5714+5G>A];[67-1delG]" "" "Germline" "yes" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000770813" "1" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Green 2020:32467599}" "" "c.[5714+5G>A];[67-1delG]" "" "Germline" "yes" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000770814" "0" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "" "{PMID:Green 2020:32467599}" "" "c.4469G>A(;)6089G>A(;)5603A>T" "" "Germline" "" "" "0" "" "" "g.94029515C>T" "" "likely pathogenic (recessive)" ""
"0000770815" "3" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Green 2020:32467599}" "" "c.[5714+5G>A];[5714+5G>A]" "" "Germline" "yes" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000770816" "3" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Green 2020:32467599}" "" "c.[5714+5G>A];[5714+5G>A]" "" "Germline" "yes" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000770817" "3" "70" "1" "94496642" "94496642" "subst" "4.06398E-6" "01695" "ABCA4_000168" "g.94496642A>G" "" "{PMID:Green 2020:32467599}" "" "c.[4163T>C];[4163T>C]" "" "Germline" "yes" "" "0" "" "" "g.94031086A>G" "" "likely pathogenic (recessive)" ""
"0000770818" "3" "70" "1" "94496642" "94496642" "subst" "4.06398E-6" "01695" "ABCA4_000168" "g.94496642A>G" "" "{PMID:Green 2020:32467599}" "" "c.[4163T>C];[4163T>C]" "" "Germline" "yes" "" "0" "" "" "g.94031086A>G" "" "likely pathogenic (recessive)" ""
"0000770819" "1" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Green 2020:32467599}" "" "c.[5714+5G>A];[4163T>C]" "" "Germline" "yes" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000770820" "1" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Green 2020:32467599}" "" "c.[5714+5G>A];[3322C>T]" "" "Germline" "yes" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000770821" "3" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Green 2020:32467599}" "" "c.[5714+5G>A];[5714+5G>A]" "" "Germline" "yes" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000770822" "0" "70" "1" "94490567" "94490567" "subst" "5.68528E-5" "01695" "ABCA4_000026" "g.94490567G>A" "" "{PMID:Green 2020:32467599}" "" "c.4577C>T(;)5603A>T" "" "Germline" "" "" "0" "" "" "g.94025011G>A" "" "likely pathogenic (recessive)" ""
"0000770823" "1" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Green 2020:32467599}" "" "c.[5714+5G>A];[5461-10T>C;5603A>T]" "" "Germline" "yes" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000770824" "3" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Green 2020:32467599}" "" "c.[5714+5G>A;2588G>C];[5714+5G>A]" "" "Germline" "yes" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000770825" "1" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Green 2020:32467599}" "" "c.[5714+5G>A;2588G>C];[5461-10T>C;5603A>T]" "" "Germline" "yes" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000770826" "1" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Green 2020:32467599}" "" "c.[2588G>C;5603A>T];[6449G>A]" "" "Germline" "yes" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000770827" "1" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Green 2020:32467599}" "" "c.[2588G>C;5603A>T];[4537delC]" "" "Germline" "yes" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000770828" "1" "90" "1" "94520690" "94520690" "subst" "2.03102E-5" "01695" "ABCA4_000149" "g.94520690C>T" "" "{PMID:Green 2020:32467599}" "" "c.[2564G>A];[5461-10T>C;5603A>T]" "" "Germline" "yes" "" "0" "" "" "g.94055134C>T" "" "pathogenic (recessive)" ""
"0000770829" "3" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Green 2020:32467599}" "" "c.[5461-10T>C;5603A>T];[5461-10T>C;5603A>T]" "" "Germline" "yes" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000770830" "3" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Green 2020:32467599}" "" "c.[5461-10T>C;5603A>T];[5461-10T>C;5603A>T]" "" "Germline" "yes" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000770831" "1" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Green 2020:32467599}" "" "c.[5714+5G>A];[5461-10T>C;5603A>T]" "" "Germline" "yes" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000770832" "3" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Green 2020:32467599}" "" "c.[5461-10T>C;5603A>T];[5461-10T>C;5603A>T]" "" "Germline" "yes" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000770833" "3" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Green 2020:32467599}" "" "c.[5714+5G>A];[5714+5G>A]" "" "Germline" "yes" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000770834" "3" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Green 2020:32467599}" "" "c.[5714+5G>A];[5714+5G>A]" "" "Germline" "yes" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000770835" "3" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Green 2020:32467599}" "" "c.[5714+5G>A];[5714+5G>A]" "" "Germline" "yes" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000770836" "0" "90" "1" "94520690" "94520690" "subst" "2.03102E-5" "01695" "ABCA4_000149" "g.94520690C>T" "" "{PMID:Green 2020:32467599}" "" "c.2564G>A(;)4139C>T" "" "Germline" "" "" "0" "" "" "g.94055134C>T" "" "pathogenic (recessive)" ""
"0000770837" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Green 2020:32467599}" "" "c.3322C>T(;)3323G>A" "" "Germline" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000770838" "3" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Green 2020:32467599}" "" "c.[4139C>T];[4139C>T]" "" "Germline" "yes" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000770839" "1" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Green 2020:32467599}" "" "c.[5714+5G>A];[2564G>A]" "" "Germline" "yes" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000770840" "1" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Green 2020:32467599}" "" "c.[5461-10T>C;5603A>T];[5603A>T]" "" "Germline" "yes" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000770841" "1" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Green 2020:32467599}" "" "c.[5461-10T>C;5603A>T];[5603A>T]" "" "Germline" "yes" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000770842" "1" "90" "1" "94520690" "94520690" "subst" "2.03102E-5" "01695" "ABCA4_000149" "g.94520690C>T" "" "{PMID:Green 2020:32467599}" "" "c.[2564G>A;5603A>T]" "" "Germline" "" "" "0" "" "" "g.94055134C>T" "" "pathogenic (recessive)" ""
"0000770843" "1" "90" "1" "94520690" "94520690" "subst" "2.03102E-5" "01695" "ABCA4_000149" "g.94520690C>T" "" "{PMID:Green 2020:32467599}" "" "c.[2564G>A;5603A>T]" "" "Germline" "" "" "0" "" "" "g.94055134C>T" "" "pathogenic (recessive)" ""
"0000770844" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Green 2020:32467599}" "" "c.4139C>T(;)5714+5G>A" "" "Germline" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000770845" "0" "70" "1" "94490567" "94490567" "subst" "5.68528E-5" "01695" "ABCA4_000026" "g.94490567G>A" "" "{PMID:Green 2020:32467599}" "" "c.4577C>T(;)5714+5G>A" "" "Germline" "" "" "0" "" "" "g.94025011G>A" "" "likely pathogenic (recessive)" ""
"0000770846" "1" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Green 2020:32467599}" "" "c.[5714+5G>A];[3322C>T]" "" "Germline" "yes" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000770847" "0" "70" "1" "94496642" "94496642" "subst" "4.06398E-6" "01695" "ABCA4_000168" "g.94496642A>G" "" "{PMID:Green 2020:32467599}" "" "c.4163T>C(;)4469G>A" "" "Germline" "" "" "0" "" "" "g.94031086A>G" "" "likely pathogenic (recessive)" ""
"0000770848" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Green 2020:32467599}" "" "c.5714+5G>A(;)634C>T" "" "Germline" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000770849" "1" "70" "1" "94577073" "94577073" "subst" "0" "01695" "ABCA4_000231" "g.94577073A>C" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.223T>G p.(Cys75Gly)" "" "Germline" "yes" "" "0" "" "" "g.94111517A>C" "" "likely pathogenic (recessive)" ""
"0000770850" "1" "90" "1" "94564011" "94564421" "del" "0" "01695" "ABCA4_002170" "g.94564011_94564421del" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.699_768+341del p.(Gln234Phefs*5)" "" "Germline" "yes" "" "0" "" "" "g.94098455_94098865del" "" "pathogenic (recessive)" ""
"0000770851" "0" "90" "1" "94508353" "94508353" "subst" "2.8431E-5" "01695" "ABCA4_000141" "g.94508353G>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.3292C>T p.(Arg1098Cys)" "" "Germline" "" "" "0" "" "" "g.94042797G>A" "" "pathogenic (recessive)" ""
"0000770852" "0" "50" "1" "94526289" "94526289" "subst" "0.000417202" "01695" "ABCA4_000767" "g.94526289A>C" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.1964T>G p.(Phe655Cys)" "" "Germline" "" "" "0" "" "" "g.94060733A>C" "" "VUS" ""
"0000770853" "3" "90" "1" "94492937" "94492937" "subst" "0" "01695" "ABCA4_000529" "g.94492937G>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.4539+2064C>T p.[=,Arg1514Leufs*36]" "" "Germline" "yes" "" "0" "" "" "g.94027381G>A" "" "pathogenic (recessive)" ""
"0000770854" "1" "90" "1" "94508435" "94508436" "dup" "0" "01695" "ABCA4_000998" "g.94508435_94508436dup" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.3210_3211dup p.(Ser1071Cysfs*14)" "" "Germline" "yes" "" "0" "" "" "g.94042879_94042880dup" "" "pathogenic (recessive)" ""
"0000770855" "1" "50" "1" "94528713" "94528713" "subst" "0" "01695" "ABCA4_000295" "g.94528713C>G" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.1715G>C p.(Arg572Pro)" "" "Germline" "yes" "" "0" "" "" "g.94063157C>G" "" "VUS" ""
"0000770856" "1" "70" "1" "94496547" "94496547" "subst" "1.21904E-5" "01695" "ABCA4_000560" "g.94496547C>T" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.4253+5G>A p.(Ile1377Hisfs*3)" "" "Germline" "yes" "" "0" "" "" "g.94030991C>T" "" "likely pathogenic (recessive)" ""
"0000770857" "1" "70" "1" "94522239" "94522239" "subst" "2.03305E-5" "01695" "ABCA4_000736" "g.94522239A>T" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.2300T>A p.(Val767Asp)" "" "Germline" "yes" "" "0" "" "" "g.94056683A>T" "" "likely pathogenic (recessive)" ""
"0000770858" "1" "70" "1" "94528780" "94528780" "subst" "4.06171E-6" "01695" "ABCA4_000299" "g.94528780C>T" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.1648G>A p.(Gly550Arg)" "" "Germline" "yes" "" "0" "" "" "g.94063224C>T" "" "likely pathogenic (recessive)" ""
"0000770859" "1" "90" "1" "94509026" "94509026" "subst" "4.06497E-5" "01695" "ABCA4_000660" "g.94509026G>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.3056C>T p.(Thr1019Met)" "" "Germline" "yes" "" "0" "" "" "g.94043470G>A" "" "pathogenic (recessive)" ""
"0000770860" "0" "70" "1" "94495083" "94495083" "subst" "0.000124542" "01695" "ABCA4_000542" "g.94495083G>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.4457C>T p.(Pro1486Leu)" "" "Germline" "" "" "0" "" "" "g.94029527G>A" "" "likely pathogenic (recessive)" ""
"0000770861" "0" "50" "1" "94528278" "94528278" "subst" "8.14571E-5" "01695" "ABCA4_000286" "g.94528278C>T" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.1792G>A p.(Val598Met)" "" "Germline" "" "" "0" "" "" "g.94062722C>T" "" "VUS" ""
"0000770862" "0" "10" "1" "94497563" "94497563" "subst" "0.00492504" "01695" "ABCA4_000090" "g.94497563C>T" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.3899G>A p.(Arg1300Gln)" "" "Germline" "" "" "0" "" "" "g.94032007C>T" "" "benign" ""
"0000770863" "0" "90" "1" "94497519" "94497519" "subst" "0" "01695" "ABCA4_000585" "g.94497519G>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.3943C>T p.(Gln1315*)" "" "Germline" "" "" "0" "" "" "g.94031963G>A" "" "pathogenic (recessive)" ""
"0000770864" "1" "90" "1" "94564447" "94564447" "del" "0" "01695" "ABCA4_000138" "g.94564447del" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.671del p.(Thr224Argfs*17)" "" "Germline" "yes" "" "0" "" "" "g.94098891del" "" "pathogenic (recessive)" ""
"0000770865" "0" "50" "1" "94495021" "94495021" "subst" "0.000161713" "01695" "ABCA4_000538" "g.94495021C>T" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.4519G>A p.(Gly1507Arg)" "" "Germline" "" "" "0" "" "" "g.94029465C>T" "" "VUS" ""
"0000770866" "0" "70" "1" "94522254" "94522254" "subst" "0" "01695" "ABCA4_000742" "g.94522254G>T" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.2285C>A p.(Ala762Glu)" "" "Germline" "" "" "0" "" "" "g.94056698G>T" "" "likely pathogenic (recessive)" ""
"0000770867" "0" "50" "1" "94520853" "94520853" "subst" "8.14783E-6" "01695" "ABCA4_000729" "g.94520853C>T" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.2401G>A p.(Ala801Thr)" "" "Germline" "" "" "0" "" "" "g.94055297C>T" "" "VUS" ""
"0000770868" "0" "90" "1" "94568687" "94568687" "subst" "1.62641E-5" "01695" "ABCA4_000024" "g.94568687G>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.454C>T p.(Arg152*)" "" "Germline" "" "" "0" "" "" "g.94103131G>A" "" "pathogenic (recessive)" ""
"0000770869" "0" "90" "1" "94546185" "94546185" "del" "0" "01695" "ABCA4_000350" "g.94546185del" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.950del p.(Gly317Alafs*57)" "" "Germline" "" "" "0" "" "" "g.94080629del" "" "pathogenic (recessive)" ""
"0000770870" "3" "50" "1" "94480108" "94480108" "subst" "0" "01695" "ABCA4_000439" "g.94480108C>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.5451G>T p.(Glu1817Asp)" "" "Germline" "" "" "0" "" "" "g.94014552C>A" "" "VUS" ""
"0000770871" "0" "50" "1" "94512602" "94512602" "subst" "0.000369717" "01695" "ABCA4_000052" "g.94512602C>T" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.2791G>A p.(Val931Met)" "" "Germline" "" "" "0" "" "" "g.94047046C>T" "" "VUS" ""
"0000770872" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.[1622T>C;3113C>T] p.[Leu541Pro; Ala1038Val]" "" "Germline" "yes" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000770873" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.3113C>T p.(Ala1038Val)" "" "Germline" "yes" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000770874" "0" "70" "1" "94496548" "94496548" "subst" "2.43787E-5" "01695" "ABCA4_000088" "g.94496548G>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.4253+4C>T p.(Ile1377Hisfs*3)" "" "Germline" "" "" "0" "" "" "g.94030992G>A" "" "likely pathogenic (recessive)" ""
"0000770875" "0" "90" "1" "94528251" "94528251" "subst" "2.84824E-5" "01695" "ABCA4_000281" "g.94528251C>T" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.[1819G>A;4283C>T] p.[Gly607Arg;Thr1428Met]" "" "Germline" "" "" "0" "" "" "g.94062695C>T" "" "pathogenic (recessive)" ""
"0000770876" "0" "70" "1" "94484001" "94484001" "subst" "0" "01695" "ABCA4_000016" "g.94484001C>T" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.5196+1137G>A p.[Met1733Glufs*78,=]" "" "Germline" "" "" "0" "" "" "g.94018445C>T" "" "likely pathogenic (recessive)" ""
"0000770877" "1" "90" "1" "94546098" "94546098" "subst" "0" "01695" "ABCA4_000338" "g.94546098A>C" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.1035T>G p.(Tyr345*)" "" "Germline" "yes" "" "0" "" "" "g.94080542A>C" "" "pathogenic (recessive)" ""
"0000770878" "1" "70" "1" "94495083" "94495083" "subst" "0.000124542" "01695" "ABCA4_000542" "g.94495083G>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.4457C>T p.(Pro1486Leu)" "" "Germline" "yes" "" "0" "" "" "g.94029527G>A" "" "likely pathogenic (recessive)" ""
"0000770879" "1" "70" "1" "94568581" "94568581" "subst" "3.65458E-5" "01695" "ABCA4_000202" "g.94568581C>T" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.560G>A p.(Arg178His)" "" "Germline" "yes" "" "0" "" "" "g.94103025C>T" "" "likely pathogenic (recessive)" ""
"0000770880" "0" "90" "1" "94495009" "94495009" "dup" "0" "01695" "ABCA4_000087" "g.94495009dup" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.4537dup p.(Gln1513Profs*42)" "" "Germline" "" "" "0" "" "" "g.94029453dup" "" "pathogenic (recessive)" ""
"0000770881" "0" "90" "1" "94508435" "94508436" "dup" "0" "01695" "ABCA4_000998" "g.94508435_94508436dup" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.3210_3211dup p.(Ser1071Cysfs*14)" "" "Germline" "" "" "0" "" "" "g.94042879_94042880dup" "" "pathogenic (recessive)" ""
"0000770882" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.3113C>T p.(Ala1038Val)" "" "Germline" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000770883" "0" "70" "1" "94546111" "94546111" "subst" "0" "01695" "ABCA4_002147" "g.94546111T>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.1022A>T p.(Glu341Val)" "" "Germline" "" "" "0" "" "" "g.94080555T>A" "" "likely pathogenic (recessive)" ""
"0000770884" "1" "90" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.634C>T p.(Arg212Cys)" "" "Germline" "yes" "" "0" "" "" "g.94098928G>A" "" "pathogenic (recessive)" ""
"0000770885" "3" "70" "1" "94508346" "94508346" "subst" "0" "01695" "ABCA4_001925" "g.94508346A>G" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.3299T>C p.(Ile1100Thr)" "" "Germline" "" "" "0" "" "" "g.94042790A>G" "" "likely pathogenic (recessive)" ""
"0000770886" "1" "90" "1" "94586601" "94586601" "subst" "8.12156E-6" "01695" "ABCA4_000264" "g.94586601T>C" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.[1A>G;6089G>A] p.[Met1Val;Arg2030Gln]" "" "Germline" "yes" "" "0" "" "" "g.94121045T>C" "" "pathogenic (recessive)" ""
"0000770887" "0" "90" "1" "94512507" "94512507" "del" "0" "01695" "ABCA4_000155" "g.94512507del" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.2888del p.(Gly963Alafs*14)" "" "Germline" "" "" "0" "" "" "g.94046951del" "" "pathogenic (recessive)" ""
"0000770888" "3" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.3386G>T p.(Arg1129Leu)" "" "Germline" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000770889" "1" "70" "1" "94506923" "94506923" "subst" "2.43657E-5" "01695" "ABCA4_000012" "g.94506923C>T" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.3364G>A p.(Glu1122Lys)" "" "Germline" "yes" "" "0" "" "" "g.94041367C>T" "" "likely pathogenic (recessive)" ""
"0000770890" "1" "70" "1" "94506878" "94506878" "subst" "4.06081E-6" "01695" "ABCA4_001901" "g.94506878T>C" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.3409A>G p.(Arg1137Gly)" "" "Germline" "yes" "" "0" "" "" "g.94041322T>C" "" "likely pathogenic (recessive)" ""
"0000770891" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.3386G>T p.(Arg1129Leu)" "" "Germline" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000770892" "1" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.1804C>T p.(Arg602Trp)" "" "Germline" "yes" "" "0" "" "" "g.94062710G>A" "" "pathogenic (recessive)" ""
"0000770893" "0" "90" "1" "94502326" "94502326" "subst" "0" "01695" "ABCA4_001865" "g.94502326C>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.3832G>T p.(Glu1278*)" "" "Germline" "" "" "0" "" "" "g.94036770C>A" "" "pathogenic (recessive)" ""
"0000770894" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.3386G>T p.(Arg1129Leu)" "" "Germline" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000770895" "1" "90" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.634C>T p.(Arg212Cys)" "" "Germline" "yes" "" "0" "" "" "g.94098928G>A" "" "pathogenic (recessive)" ""
"0000770896" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.3386G>T p.(Arg1129Leu)" "" "Germline" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000770897" "0" "70" "1" "94490568" "94490568" "subst" "0" "01695" "ABCA4_001788" "g.94490568T>C" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.4576A>G p.(Thr1526Ala)" "" "Germline" "" "" "0" "" "" "g.94025012T>C" "" "likely pathogenic (recessive)" ""
"0000770898" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.3386G>T p.(Arg1129Leu)" "" "Germline" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000770899" "0" "70" "1" "94495083" "94495083" "subst" "0.000124542" "01695" "ABCA4_000542" "g.94495083G>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.4457C>T p.(Pro1486Leu)" "" "Germline" "" "" "0" "" "" "g.94029527G>A" "" "likely pathogenic (recessive)" ""
"0000770900" "1" "90" "1" "94574182" "94574182" "del" "0" "01695" "ABCA4_002211" "g.94574182del" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.393del p.(Leu132Cysfs*22)" "" "Germline" "yes" "" "0" "" "" "g.94108626del" "" "pathogenic (recessive)" ""
"0000770901" "0" "70" "1" "94577112" "94577112" "subst" "0" "01695" "ABCA4_002231" "g.94577112G>C" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.184C>G p.(Pro62Ala)" "" "Germline" "" "" "0" "" "" "g.94111556G>C" "" "likely pathogenic (recessive)" ""
"0000770902" "1" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.5461-10T>C p.(Thr1821Aspfs*6)" "" "Germline" "yes" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000770903" "1" "70" "1" "94522239" "94522239" "subst" "2.03305E-5" "01695" "ABCA4_000736" "g.94522239A>T" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.2300T>A p.(Val767Asp)" "" "Germline" "yes" "" "0" "" "" "g.94056683A>T" "" "likely pathogenic (recessive)" ""
"0000770904" "0" "70" "1" "94495083" "94495083" "subst" "0.000124542" "01695" "ABCA4_000542" "g.94495083G>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.4457C>T p.(Pro1486Leu)" "" "Germline" "" "" "0" "" "" "g.94029527G>A" "" "likely pathogenic (recessive)" ""
"0000770905" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.5882G>A p.(Gly1961Glu)" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000770906" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.3386G>T p.(Arg1129Leu)" "" "Germline" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000770907" "1" "90" "1" "94546151" "94546151" "subst" "4.06855E-6" "01695" "ABCA4_000347" "g.94546151C>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.982G>T p.(Glu328*)" "" "Germline" "yes" "" "0" "" "" "g.94080595C>A" "" "pathogenic (recessive)" ""
"0000770908" "1" "90" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.634C>T p.(Arg212Cys)" "" "Germline" "yes" "" "0" "" "" "g.94098928G>A" "" "pathogenic (recessive)" ""
"0000770909" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.3386G>T p.(Arg1129Leu)" "" "Germline" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000770910" "3" "70" "1" "94467517" "94467517" "subst" "0" "01695" "ABCA4_000786" "g.94467517A>C" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.6179T>G p.(Leu2060Arg)" "" "Germline" "" "" "0" "" "" "g.94001961A>C" "" "likely pathogenic (recessive)" ""
"0000770911" "3" "70" "1" "94467517" "94467517" "subst" "0" "01695" "ABCA4_000786" "g.94467517A>C" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.6179T>G p.(Leu2060Arg)" "" "Germline" "" "" "0" "" "" "g.94001961A>C" "" "likely pathogenic (recessive)" ""
"0000770912" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.3386G>T p.(Arg1129Leu)" "" "Germline" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000770913" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.3386G>T p.(Arg1129Leu)" "" "Germline" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000770914" "0" "70" "1" "94471055" "94471055" "subst" "0.00035346" "01695" "ABCA4_000029" "g.94471055C>T" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.6089G>A p.(Arg2030Gln)" "" "Germline" "" "" "0" "" "" "g.94005499C>T" "" "likely pathogenic (recessive)" ""
"0000770915" "1" "70" "1" "94474323" "94474323" "subst" "2.03034E-5" "01695" "ABCA4_000156" "g.94474323A>G" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.5819T>C p.(Leu1940Pro)" "" "Germline" "yes" "" "0" "" "" "g.94008767A>G" "" "likely pathogenic (recessive)" ""
"0000770916" "0" "70" "1" "94546262" "94546262" "subst" "0" "01695" "ABCA4_000354" "g.94546262G>C" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.871C>G p.(Pro291Ala)" "" "Germline" "" "" "0" "" "" "g.94080706G>C" "" "likely pathogenic (recessive)" ""
"0000770917" "0" "90" "1" "94528675" "94528677" "delins" "0" "01695" "ABCA4_000291" "g.94528675_94528677delinsAT" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.1751_1753delinsAT p.(Ile584Asnfs*65)" "" "Germline" "" "" "0" "" "" "g.94063119_94063121delinsAT" "" "pathogenic (recessive)" ""
"0000770918" "1" "90" "1" "94577011" "94577011" "del" "0" "01695" "ABCA4_000160" "g.94577011del" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.287del p.(Asn96Thrfs*19)" "" "Germline" "yes" "" "0" "" "" "g.94111455del" "" "pathogenic (recessive)" ""
"0000770919" "0" "70" "1" "94495083" "94495083" "subst" "0.000124542" "01695" "ABCA4_000542" "g.94495083G>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.4457C>T p.(Pro1486Leu)" "" "Germline" "" "" "0" "" "" "g.94029527G>A" "" "likely pathogenic (recessive)" ""
"0000770920" "1" "90" "1" "94528675" "94528675" "del" "0" "01695" "ABCA4_002087" "g.94528675del" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.1755del p.(Lys585Lysfs*63)" "" "Germline" "yes" "" "0" "" "" "g.94063119del" "" "pathogenic (recessive)" ""
"0000770921" "1" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.5882G>A p.(Gly1961Glu)" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000770922" "0" "90" "1" "94520773" "94520773" "del" "0" "01695" "ABCA4_002025" "g.94520773del" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.2481del p.(Thr829Argfs*14)" "" "Germline" "" "" "0" "" "" "g.94055217del" "" "pathogenic (recessive)" ""
"0000770923" "0" "90" "1" "94512507" "94512507" "del" "0" "01695" "ABCA4_000155" "g.94512507del" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.2888del p.(Gly963Alafs*14)" "" "Germline" "" "" "0" "" "" "g.94046951del" "" "pathogenic (recessive)" ""
"0000770924" "3" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.3386G>T p.(Arg1129Leu)" "" "Germline" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000770925" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.5714+5G>A p.(=,Glu1863Leufs*33)" "" "Germline" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000770926" "0" "90" "1" "94526212" "94526212" "subst" "1.22012E-5" "01695" "ABCA4_000075" "g.94526212G>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.2041C>T p.(Arg681*)" "" "Germline" "" "" "0" "" "" "g.94060656G>A" "" "pathogenic (recessive)" ""
"0000770927" "3" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.3386G>T p.(Arg1129Leu)" "" "Germline" "yes" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000770928" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.3386G>T p.(Arg1129Leu)" "" "Germline" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000770929" "1" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.5882G>A p.(Gly1961Glu)" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000770930" "0" "90" "1" "94528251" "94528251" "subst" "0" "01695" "ABCA4_000077" "g.94528251C>G" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.1819G>C p.(Gly607Arg)" "" "Germline" "" "" "0" "" "" "g.94062695C>G" "" "pathogenic (recessive)" ""
"0000770931" "1" "90" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.634C>T p.(Arg212Cys)" "" "Germline" "yes" "" "0" "" "" "g.94098928G>A" "" "pathogenic (recessive)" ""
"0000770932" "0" "70" "1" "94466461" "94466461" "subst" "0" "01695" "ABCA4_000825" "g.94466461C>T" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.6410G>A p.(Cys2137Tyr)" "" "Germline" "" "" "0" "" "" "g.94000905C>T" "" "likely pathogenic (recessive)" ""
"0000770933" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.3386G>T p.(Arg1129Leu)" "" "Germline" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000770934" "3" "90" "1" "94526212" "94526212" "subst" "1.22012E-5" "01695" "ABCA4_000075" "g.94526212G>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.2041C>T p.(Arg681*)" "" "Germline" "" "" "0" "" "" "g.94060656G>A" "" "pathogenic (recessive)" ""
"0000770935" "1" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.1804C>T p.(Arg602Trp)" "" "Germline" "yes" "" "0" "" "" "g.94062710G>A" "" "pathogenic (recessive)" ""
"0000770936" "0" "90" "1" "94544895" "94544895" "subst" "1.62455E-5" "01695" "ABCA4_000329" "g.94544895G>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.1222C>T p.(Arg408*)" "" "Germline" "" "" "0" "" "" "g.94079339G>A" "" "pathogenic (recessive)" ""
"0000770937" "0" "90" "1" "94528675" "94528677" "delins" "0" "01695" "ABCA4_000291" "g.94528675_94528677delinsAT" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.1751_1753delinsAT p.(Ile584Asnfs*65)" "" "Germline" "" "" "0" "" "" "g.94063119_94063121delinsAT" "" "pathogenic (recessive)" ""
"0000770938" "0" "90" "1" "94512507" "94512507" "del" "0" "01695" "ABCA4_000155" "g.94512507del" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.2888del p.(Gly963Alafs*14)" "" "Germline" "" "" "0" "" "" "g.94046951del" "" "pathogenic (recessive)" ""
"0000770939" "0" "70" "1" "94474323" "94474323" "subst" "2.03034E-5" "01695" "ABCA4_000156" "g.94474323A>G" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.5819T>C p.(Leu1940Pro)" "" "Germline" "" "" "0" "" "" "g.94008767A>G" "" "likely pathogenic (recessive)" ""
"0000770940" "0" "90" "1" "94526212" "94526212" "subst" "1.22012E-5" "01695" "ABCA4_000075" "g.94526212G>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.2041C>T p.(Arg681*)" "" "Germline" "" "" "0" "" "" "g.94060656G>A" "" "pathogenic (recessive)" ""
"0000770941" "3" "70" "1" "94474323" "94474323" "subst" "2.03034E-5" "01695" "ABCA4_000156" "g.94474323A>G" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.5819T>C p.(Leu1940Pro)" "" "Germline" "" "" "0" "" "" "g.94008767A>G" "" "likely pathogenic (recessive)" ""
"0000770942" "1" "90" "1" "94510248" "94510248" "subst" "0.000544123" "01695" "ABCA4_000107" "g.94510248C>G" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.[2971G>C;3899G>A] p.[Gly991Arg;Arg1300Gln]" "" "Germline" "" "" "0" "" "" "g.94044692C>G" "" "pathogenic (recessive)" ""
"0000770943" "0" "50" "1" "94526230" "94526230" "subst" "7.32136E-5" "01695" "ABCA4_000760" "g.94526230C>T" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.2023G>A p.(Val675Ile)" "" "Germline" "" "" "0" "" "" "g.94060674C>T" "" "VUS" ""
"0000770944" "0" "90" "1" "94512507" "94512507" "del" "0" "01695" "ABCA4_000155" "g.94512507del" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.2888del p.(Gly963Alafs*14)" "" "Germline" "" "" "0" "" "" "g.94046951del" "" "pathogenic (recessive)" ""
"0000770945" "0" "70" "1" "94522254" "94522254" "subst" "0" "01695" "ABCA4_000742" "g.94522254G>T" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.2285C>A p.(Ala762Glu)" "" "Germline" "" "" "0" "" "" "g.94056698G>T" "" "likely pathogenic (recessive)" ""
"0000770946" "3" "70" "1" "94487251" "94487251" "subst" "2.85679E-5" "01695" "ABCA4_000490" "g.94487251G>T" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.4793C>A p.(Ala1598Asp)" "" "Germline" "" "" "0" "" "" "g.94021695G>T" "" "likely pathogenic (recessive)" ""
"0000770947" "0" "90" "1" "94509026" "94509026" "subst" "4.06497E-5" "01695" "ABCA4_000660" "g.94509026G>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.3056C>T p.(Thr1019Met)" "" "Germline" "" "" "0" "" "" "g.94043470G>A" "" "pathogenic (recessive)" ""
"0000770948" "1" "90" "1" "94546151" "94546151" "subst" "4.06855E-6" "01695" "ABCA4_000347" "g.94546151C>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.982G>T p.(Glu328*)" "" "Germline" "yes" "" "0" "" "" "g.94080595C>A" "" "pathogenic (recessive)" ""
"0000770949" "3" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.1804C>T p.(Arg602Trp)" "" "Germline" "" "" "0" "" "" "g.94062710G>A" "" "pathogenic (recessive)" ""
"0000770950" "1" "50" "1" "94490612" "94490612" "subst" "4.06095E-6" "01695" "ABCA4_001793" "g.94490612A>G" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.[4540-8T>C;5882G>A] p.[Gln1513insProGln;Gly1961Glu]" "" "Germline" "yes" "" "0" "" "" "g.94025056A>G" "" "VUS" ""
"0000770951" "3" "90" "1" "94473278" "94473278" "del" "3.25908E-5" "01695" "ABCA4_000392" "g.94473278del" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.5917del p.(Val1973*)" "" "Germline" "" "" "0" "" "" "g.94007722del" "" "pathogenic (recessive)" ""
"0000770952" "0" "50" "1" "94528713" "94528713" "subst" "0" "01695" "ABCA4_000295" "g.94528713C>G" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.1715G>C p.(Arg572Pro)" "" "Germline" "" "" "0" "" "" "g.94063157C>G" "" "VUS" ""
"0000770953" "1" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.[3322C>T;6320G>A] p.[Arg1108Cys;Arg2107His]" "" "Germline" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000770954" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.3386G>T p.(Arg1129Leu)" "" "Germline" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000770955" "0" "90" "1" "94512507" "94512507" "del" "0" "01695" "ABCA4_000155" "g.94512507del" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.2888del p.(Gly963Alafs*14)" "" "Germline" "" "" "0" "" "" "g.94046951del" "" "pathogenic (recessive)" ""
"0000770956" "0" "70" "1" "94473266" "94473266" "subst" "8.14677E-6" "01695" "ABCA4_000389" "g.94473266C>T" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.5929G>A p.(Gly1977Ser)" "" "Germline" "" "" "0" "" "" "g.94007710C>T" "" "likely pathogenic (recessive)" ""
"0000770957" "1" "90" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.[634C>T;2546T>C] p.[Arg212Cys;Val849Ala]" "" "Germline" "" "" "0" "" "" "g.94098928G>A" "" "pathogenic (recessive)" ""
"0000770958" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.3386G>T p.(Arg1129Leu)" "" "Germline" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000770959" "1" "70" "1" "94496548" "94496548" "subst" "2.43787E-5" "01695" "ABCA4_000088" "g.94496548G>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.4253+4C>T p.(Ile1377Hisfs*3)" "" "Germline" "yes" "" "0" "" "" "g.94030992G>A" "" "likely pathogenic (recessive)" ""
"0000770960" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.3386G>T p.(Arg1129Leu)" "" "Germline" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000770961" "0" "90" "1" "94526296" "94526296" "subst" "1.64555E-5" "01695" "ABCA4_000768" "g.94526296G>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.1957C>T p.(Arg653Cys)" "" "Germline" "" "" "0" "" "" "g.94060740G>A" "" "pathogenic (recessive)" ""
"0000770962" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.3386G>T p.(Arg1129Leu)" "" "Germline" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000770963" "1" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.1804C>T p.(Arg602Trp)" "" "Germline" "yes" "" "0" "" "" "g.94062710G>A" "" "pathogenic (recessive)" ""
"0000770964" "1" "90" "1" "94512507" "94512507" "del" "0" "01695" "ABCA4_000155" "g.94512507del" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.2888del p.(Gly693Alafs*14)" "" "Germline" "yes" "" "0" "" "" "g.94046951del" "" "pathogenic (recessive)" ""
"0000770965" "1" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.[3322C>T;6320G>A] p.[Arg1108Cys;Arg2107His]" "" "Germline" "yes" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000770966" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.5882G>A p.(Gly1961Glu)" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000770967" "1" "70" "1" "94564507" "94564507" "subst" "0" "01695" "ABCA4_002191" "g.94564507G>T" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.611C>A p.(Ala204Asp)" "" "Germline" "yes" "" "0" "" "" "g.94098951G>T" "" "likely pathogenic (recessive)" ""
"0000770968" "1" "90" "1" "94492937" "94492937" "subst" "0" "01695" "ABCA4_000529" "g.94492937G>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.4539+2064C>T p.[=,Arg1514Leufs*36]" "" "Germline" "yes" "" "0" "" "" "g.94027381G>A" "" "pathogenic (recessive)" ""
"0000770969" "0" "50" "1" "94528202" "94528202" "subst" "0" "01695" "ABCA4_000270" "g.94528202T>C" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.1868A>G p.(Gln623Arg)" "" "Germline" "" "" "0" "" "" "g.94062646T>C" "" "VUS" ""
"0000770970" "1" "70" "1" "94528238" "94528238" "subst" "4.06769E-6" "01695" "ABCA4_000277" "g.94528238A>G" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.1832T>C p.(Leu611Pro)" "" "Germline" "yes" "" "0" "" "" "g.94062682A>G" "" "likely pathogenic (recessive)" ""
"0000770971" "0" "70" "1" "94577073" "94577073" "subst" "0" "01695" "ABCA4_000231" "g.94577073A>C" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.223T>G p.(Cys75Gly)" "" "Germline" "" "" "0" "" "" "g.94111517A>C" "" "likely pathogenic (recessive)" ""
"0000770972" "1" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.1804C>T p.(Arg602Trp)" "" "Germline" "yes" "" "0" "" "" "g.94062710G>A" "" "pathogenic (recessive)" ""
"0000770973" "3" "90" "1" "94546151" "94546151" "subst" "4.06855E-6" "01695" "ABCA4_000347" "g.94546151C>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.982G>T p.(Glu328*)" "" "Germline" "yes" "" "0" "" "" "g.94080595C>A" "" "pathogenic (recessive)" ""
"0000770974" "1" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.3386G>T p.(Arg1129Leu)" "" "Germline" "yes" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000770975" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.5461-10T>C p.(Thr1821Aspfs*6)" "" "Germline" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000770976" "1" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.1804C>T p.(Arg602Trp)" "" "Germline" "yes" "" "0" "" "" "g.94062710G>A" "" "pathogenic (recessive)" ""
"0000770977" "1" "50" "1" "94486888" "94486888" "subst" "3.65548E-5" "01695" "ABCA4_000137" "g.94486888G>C" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.[4926C>G;5044_5058del] p.[Ser1642Arg;Val1682_Val1686del]" "" "Germline" "yes" "" "0" "" "" "g.94021332G>C" "" "VUS" ""
"0000770978" "3" "90" "1" "94508435" "94508436" "dup" "0" "01695" "ABCA4_000998" "g.94508435_94508436dup" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.3210_3211dup p.(Ser1071Cysfs*14)" "" "Germline" "" "" "0" "" "" "g.94042879_94042880dup" "" "pathogenic (recessive)" ""
"0000770979" "1" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.1804C>T p.(Arg602Trp)" "" "Germline" "yes" "" "0" "" "" "g.94062710G>A" "" "pathogenic (recessive)" ""
"0000770980" "1" "90" "1" "94546098" "94546111" "del" "0" "01695" "ABCA4_000022" "g.94546098_94546111del" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.1025_1038del p.(Asp342Glyfs*6)" "" "Germline" "yes" "" "0" "" "" "g.94080542_94080555del" "" "pathogenic (recessive)" ""
"0000770981" "1" "90" "1" "94528191" "94528191" "subst" "0" "01695" "ABCA4_002074" "g.94528191C>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.1879G>T p.(Glu627*)" "" "Germline" "yes" "" "0" "" "" "g.94062635C>A" "" "pathogenic (recessive)" ""
"0000770982" "0" "90" "1" "94471056" "94471056" "subst" "2.84398E-5" "01695" "ABCA4_000050" "g.94471056G>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.6088C>T p.(Arg2030*)" "" "Germline" "" "" "0" "" "" "g.94005500G>A" "" "pathogenic (recessive)" ""
"0000770983" "1" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.3386G>T p.(Arg1129Leu)" "" "Germline" "yes" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000770984" "3" "70" "1" "94485279" "94485293" "del" "0" "01695" "ABCA4_000476" "g.94485279_94485293del" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.5044_5058del p.(Val1681_Cys1685del)" "" "Germline" "" "" "0" "" "" "g.94019723_94019737del" "" "likely pathogenic (recessive)" ""
"0000770985" "1" "70" "1" "94496583" "94496583" "subst" "2.03092E-5" "01695" "ABCA4_000190" "g.94496583A>G" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.[4222T>C;4918C>T] p.[Trp1408Arg;Arg1640Trp]" "" "Germline" "" "" "0" "" "" "g.94031027A>G" "" "likely pathogenic (recessive)" ""
"0000770986" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.1804C>T p.(Arg602Trp)" "" "Germline" "" "" "0" "" "" "g.94062710G>A" "" "pathogenic (recessive)" ""
"0000770987" "0" "70" "1" "94484001" "94484001" "subst" "0" "01695" "ABCA4_000016" "g.94484001C>T" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.5196+1137G>A p.[Met1733Glufs*78,=]" "" "Germline" "" "" "0" "" "" "g.94018445C>T" "" "likely pathogenic (recessive)" ""
"0000770988" "1" "90" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.2894A>G p.(Asn965Ser)" "" "Germline" "yes" "" "0" "" "" "g.94046943T>C" "" "pathogenic (recessive)" ""
"0000770989" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.3386G>T p.(Arg1129Leu)" "" "Germline" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000770990" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.3386G>T p.(Arg1129Leu)" "" "Germline" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000770991" "3" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.3386G>T p.(Arg1129Leu)" "" "Germline" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000770992" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.3386G>T p.(Arg1129Leu)" "" "Germline" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000770993" "1" "90" "1" "94508435" "94508436" "dup" "0" "01695" "ABCA4_000998" "g.94508435_94508436dup" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.3210_3211dup p.(Ser1071Cysfs*14)" "" "Germline" "yes" "" "0" "" "" "g.94042879_94042880dup" "" "pathogenic (recessive)" ""
"0000770994" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.3113C>T p.(Ala1038Val)" "" "Germline" "yes" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000770995" "0" "90" "1" "94512507" "94512507" "del" "0" "01695" "ABCA4_000155" "g.94512507del" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.2888del p.(Gly693Alafs*14)" "" "Germline" "" "" "0" "" "" "g.94046951del" "" "pathogenic (recessive)" ""
"0000770996" "1" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.[2588G>C;5461-10T>C] p.[Gly863Ala,Gly863del;Thr1821Aspfs*6)]" "" "Germline" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000770997" "3" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.3386G>T p.(Arg1129Leu)" "" "Germline" "yes" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000770998" "3" "70" "1" "94506904" "94506904" "subst" "0" "01695" "ABCA4_001176" "g.94506904T>C" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.3383A>G p.(Asp1128Gly)" "" "Germline" "yes" "" "0" "" "" "g.94041348T>C" "" "likely pathogenic (recessive)" ""
"0000770999" "3" "70" "1" "94496082" "94496082" "subst" "0" "01695" "ABCA4_001834" "g.94496082G>T" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.4254C>A p.(Ser1418Arg)" "" "Germline" "yes" "" "0" "" "" "g.94030526G>T" "" "likely pathogenic (recessive)" ""
"0000771000" "0" "50" "1" "94526230" "94526230" "subst" "7.32136E-5" "01695" "ABCA4_000760" "g.94526230C>T" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.2023G>A p.(Val675Ile)" "" "Germline" "" "" "0" "" "" "g.94060674C>T" "" "VUS" ""
"0000771001" "0" "70" "1" "94522254" "94522254" "subst" "0" "01695" "ABCA4_000742" "g.94522254G>T" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.2285C>A p.(Ala762Glu)" "" "Germline" "" "" "0" "" "" "g.94056698G>T" "" "likely pathogenic (recessive)" ""
"0000771002" "1" "70" "1" "94476853" "94476853" "subst" "4.06243E-6" "01695" "ABCA4_000429" "g.94476853A>G" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.5549T>C p.(Leu1850Pro)" "" "Germline" "yes" "" "0" "" "" "g.94011297A>G" "" "likely pathogenic (recessive)" ""
"0000771003" "1" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.3386G>T p.(Arg1129Leu)" "" "Germline" "yes" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000771004" "0" "70" "1" "94495083" "94495083" "subst" "0.000124542" "01695" "ABCA4_000542" "g.94495083G>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.4457C>T p.(Pro1486Leu)" "" "Germline" "" "" "0" "" "" "g.94029527G>A" "" "likely pathogenic (recessive)" ""
"0000771005" "1" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.3386G>T p.(Arg1129Leu)" "" "Germline" "yes" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000771006" "0" "70" "1" "94467517" "94467517" "subst" "0" "01695" "ABCA4_000786" "g.94467517A>C" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.6179T>G p.(Leu2060Arg)" "" "Germline" "" "" "0" "" "" "g.94001961A>C" "" "likely pathogenic (recessive)" ""
"0000771007" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.1804C>T p.(Arg602Trp)" "" "Germline" "" "" "0" "" "" "g.94062710G>A" "" "pathogenic (recessive)" ""
"0000771008" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.3386G>T p.(Arg1129Leu)" "" "Germline" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000771009" "3" "70" "1" "94474323" "94474323" "subst" "2.03034E-5" "01695" "ABCA4_000156" "g.94474323A>G" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.5819T>C p.(Leu1940Pro)" "" "Germline" "" "" "0" "" "" "g.94008767A>G" "" "likely pathogenic (recessive)" ""
"0000771010" "3" "70" "1" "94495083" "94495083" "subst" "0.000124542" "01695" "ABCA4_000542" "g.94495083G>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.4457C>T p.(Pro1486Leu)" "" "Germline" "yes" "" "0" "" "" "g.94029527G>A" "" "likely pathogenic (recessive)" ""
"0000771011" "1" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.1804C>T p.(Arg602Trp)" "" "Germline" "yes" "" "0" "" "" "g.94062710G>A" "" "pathogenic (recessive)" ""
"0000771012" "0" "70" "1" "94543436" "94543436" "subst" "0" "01695" "ABCA4_002121" "g.94543436A>T" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.1364T>A p.(Leu455Gln)" "" "Germline" "" "" "0" "" "" "g.94077880A>T" "" "likely pathogenic (recessive)" ""
"0000771013" "1" "70" "1" "94506904" "94506904" "subst" "0" "01695" "ABCA4_001176" "g.94506904T>C" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.3383A>G p.(Asp1128Gly)" "" "Germline" "yes" "" "0" "" "" "g.94041348T>C" "" "likely pathogenic (recessive)" ""
"0000771014" "1" "90" "1" "94520771" "94520771" "subst" "0" "01695" "ABCA4_002024" "g.94520771G>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.[2483C>T;2481del] p.[Pro828Leu;Thr829Argfs*14]" "" "Germline" "" "" "0" "" "" "g.94055215G>A" "" "pathogenic (recessive)" ""
"0000771015" "0" "70" "1" "94471055" "94471055" "subst" "0.00035346" "01695" "ABCA4_000029" "g.94471055C>T" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.6089G>A p.(Arg2030Gln)" "" "Germline" "" "" "0" "" "" "g.94005499C>T" "" "likely pathogenic (recessive)" ""
"0000771016" "0" "70" "1" "94506904" "94506904" "subst" "0" "01695" "ABCA4_001176" "g.94506904T>C" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.3383A>G p.(Asp1128Gly)" "" "Germline" "" "" "0" "" "" "g.94041348T>C" "" "likely pathogenic (recessive)" ""
"0000771017" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.1622T>C p.(Leu541Pro)" "" "Germline" "yes" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000771018" "3" "70" "1" "94480175" "94480175" "subst" "0" "01695" "ABCA4_001694" "g.94480175A>G" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.5384T>C p.(Leu1795Ser)" "" "Germline" "yes" "" "0" "" "" "g.94014619A>G" "" "likely pathogenic (recessive)" ""
"0000771019" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.3386G>T p.(Arg1129Leu)" "" "Germline" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000771020" "0" "70" "1" "94486896" "94486896" "subst" "3.65562E-5" "01695" "ABCA4_000085" "g.94486896G>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.4918C>T p.(Arg1640Trp)" "" "Germline" "" "" "0" "" "" "g.94021340G>A" "" "likely pathogenic (recessive)" ""
"0000771021" "3" "70" "1" "94506904" "94506904" "subst" "0" "01695" "ABCA4_001176" "g.94506904T>C" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.3383A>G p.(Asp1128Gly)" "" "Germline" "yes" "" "0" "" "" "g.94041348T>C" "" "likely pathogenic (recessive)" ""
"0000771022" "1" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.[3322C>T;6071A>G] p.[Arg1108His;Asp2024Gly]" "" "Germline" "yes" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000771023" "1" "90" "1" "94508435" "94508436" "dup" "0" "01695" "ABCA4_000998" "g.94508435_94508436dup" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.3210_3211dup p.(Ser1071Cysfs*14)" "" "Germline" "yes" "" "0" "" "" "g.94042879_94042880dup" "" "pathogenic (recessive)" ""
"0000771024" "0" "70" "1" "94506904" "94506904" "subst" "0" "01695" "ABCA4_001176" "g.94506904T>C" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.3383A>G p.(Asp1128Gly)" "" "Germline" "" "" "0" "" "" "g.94041348T>C" "" "likely pathogenic (recessive)" ""
"0000771025" "0" "90" "1" "94528251" "94528251" "subst" "0" "01695" "ABCA4_000077" "g.94528251C>G" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.1819G>C p.(Gly607Arg)" "" "Germline" "" "" "0" "" "" "g.94062695C>G" "" "pathogenic (recessive)" ""
"0000771026" "1" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.3386G>T p.(Arg1129Leu)" "" "Germline" "yes" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000771027" "3" "90" "1" "94508435" "94508436" "dup" "0" "01695" "ABCA4_000998" "g.94508435_94508436dup" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.3210_3211dup p.(Ser1071Cysfs*14)" "" "Germline" "yes" "" "0" "" "" "g.94042879_94042880dup" "" "pathogenic (recessive)" ""
"0000771028" "1" "90" "1" "94508435" "94508436" "dup" "0" "01695" "ABCA4_000998" "g.94508435_94508436dup" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.3210_3211dup p.(Ser1071Cysfs*14)" "" "Germline" "yes" "" "0" "" "" "g.94042879_94042880dup" "" "pathogenic (recessive)" ""
"0000771029" "1" "70" "1" "94574147" "94574147" "subst" "8.12236E-6" "01695" "ABCA4_000213" "g.94574147G>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.428C>T p.(Pro143Leu)" "" "Germline" "yes" "" "0" "" "" "g.94108591G>A" "" "likely pathogenic (recessive)" ""
"0000771030" "3" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.3386G>T p.(Arg1129Leu)" "" "Germline" "yes" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000771031" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.5714+5G>A p.(=,Glu1863Leufs*33)" "" "Germline" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000771032" "0" "70" "1" "94522254" "94522254" "subst" "0" "01695" "ABCA4_000742" "g.94522254G>T" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.2285C>A p.(Ala762Glu)" "" "Germline" "" "" "0" "" "" "g.94056698G>T" "" "likely pathogenic (recessive)" ""
"0000771033" "3" "50" "1" "94486888" "94486888" "subst" "3.65548E-5" "01695" "ABCA4_000137" "g.94486888G>C" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.[4926C>G;5044_5058del] p.[Ser1642Arg; Val1681_Cys1685del]" "" "Germline" "" "" "0" "" "" "g.94021332G>C" "" "VUS" ""
"0000771034" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.3386G>T p.(Arg1129Leu)" "" "Germline" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000771035" "3" "70" "1" "94467467" "94467467" "subst" "4.06164E-6" "01695" "ABCA4_000780" "g.94467467G>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.6229C>T p.(Arg2077Trp)" "" "Germline" "" "" "0" "" "" "g.94001911G>A" "" "likely pathogenic (recessive)" ""
"0000771036" "0" "70" "1" "94528143" "94528143" "subst" "0.00124448" "01695" "ABCA4_000076" "g.94528143C>T" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.1927G>A p.(Ala643Met)" "" "Germline" "" "" "0" "" "" "g.94062587C>T" "" "likely pathogenic (recessive)" ""
"0000771037" "3" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.3386G>T p.(Arg1129Leu)" "" "Germline" "yes" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000771038" "1" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.3386G>T p.(Arg1129Leu)" "" "Germline" "yes" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000771039" "0" "90" "1" "94544895" "94544895" "subst" "1.62455E-5" "01695" "ABCA4_000329" "g.94544895G>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.1222C>T p.(Arg408*)" "" "Germline" "" "" "0" "" "" "g.94079339G>A" "" "pathogenic (recessive)" ""
"0000771040" "1" "90" "1" "94546098" "94546111" "del" "0" "01695" "ABCA4_000022" "g.94546098_94546111del" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.1025_1038del p.(Asp342Glyfs*6)" "" "Germline" "yes" "" "0" "" "" "g.94080542_94080555del" "" "pathogenic (recessive)" ""
"0000771041" "1" "70" "1" "94495083" "94495083" "subst" "0.000124542" "01695" "ABCA4_000542" "g.94495083G>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.4457C>T p.(Pro1486Leu)" "" "Germline" "yes" "" "0" "" "" "g.94029527G>A" "" "likely pathogenic (recessive)" ""
"0000771042" "0" "70" "1" "94577010" "94577010" "subst" "1.22004E-5" "01695" "ABCA4_000224" "g.94577010T>C" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.286A>G p.(Asn96Asp)" "" "Germline" "" "" "0" "" "" "g.94111454T>C" "" "likely pathogenic (recessive)" ""
"0000771043" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.2588G>T p.(Gly863Ala)" "" "Germline" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000771044" "1" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.[3386G>T;6718A>G] p.[Arg1129Leu;Thr2240Ala]" "" "Germline" "yes" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000771045" "1" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.3386G>T p.(Arg1129Leu)" "" "Germline" "yes" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000771046" "1" "90" "1" "94508435" "94508436" "dup" "0" "01695" "ABCA4_000998" "g.94508435_94508436dup" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.3210_3211dup p.(Ser1071Cysfs*14)" "" "Germline" "yes" "" "0" "" "" "g.94042879_94042880dup" "" "pathogenic (recessive)" ""
"0000771047" "0" "50" "1" "94496014" "94496014" "subst" "0" "01695" "ABCA4_000550" "g.94496014C>T" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.4322G>A p.(Gly1441Asp)" "" "Germline" "" "" "0" "" "" "g.94030458C>T" "" "VUS" ""
"0000771048" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.3386G>T p.(Arg1129Leu)" "" "Germline" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000771049" "0" "90" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.634C>T p.(Arg212Cys)" "" "Germline" "" "" "0" "" "" "g.94098928G>A" "" "pathogenic (recessive)" ""
"0000771050" "1" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.3386G>T p.(Arg1129Leu)" "" "Germline" "yes" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000771051" "0" "90" "1" "94512507" "94512507" "del" "0" "01695" "ABCA4_000155" "g.94512507del" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.2888del p.(Gly963Alafs*14)" "" "Germline" "" "" "0" "" "" "g.94046951del" "" "pathogenic (recessive)" ""
"0000771052" "0" "90" "1" "94476355" "94476355" "subst" "4.0626E-6" "01695" "ABCA4_001666" "g.94476355C>T" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.5714+1G>A p.(?)" "" "Germline" "" "" "0" "" "" "g.94010799C>T" "" "pathogenic (recessive)" ""
"0000771053" "0" "90" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.634C>T p.(Arg212Cys)" "" "Germline" "" "" "0" "" "" "g.94098928G>A" "" "pathogenic (recessive)" ""
"0000771054" "3" "70" "1" "94476853" "94476853" "subst" "4.06243E-6" "01695" "ABCA4_000429" "g.94476853A>G" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.5549T>C p.(Leu1850Pro)" "" "Germline" "yes" "" "0" "" "" "g.94011297A>G" "" "likely pathogenic (recessive)" ""
"0000771055" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.3386G>T p.(Arg1129Leu)" "" "Germline" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000771056" "1" "90" "1" "94574197" "94574197" "subst" "0" "01695" "ABCA4_002215" "g.94574197C>T" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.378G>A p.(Trp126*)" "" "Germline" "yes" "" "0" "" "" "g.94108641C>T" "" "pathogenic (recessive)" ""
"0000771057" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.3386G>T p.(Arg1129Leu)" "" "Germline" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000771058" "1" "50" "1" "94526230" "94526230" "subst" "7.32136E-5" "01695" "ABCA4_000760" "g.94526230C>T" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.2023G>A p.(Val675Ile)" "" "Germline" "yes" "" "0" "" "" "g.94060674C>T" "" "VUS" ""
"0000771059" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.3386G>T p.(Arg1129Leu)" "" "Germline" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000771060" "1" "90" "1" "94577011" "94577011" "del" "0" "01695" "ABCA4_000160" "g.94577011del" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.287del p.(Asn96Thrfs*19)" "" "Germline" "yes" "" "0" "" "" "g.94111455del" "" "pathogenic (recessive)" ""
"0000771061" "1" "90" "1" "94546151" "94546151" "subst" "4.06855E-6" "01695" "ABCA4_000347" "g.94546151C>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.982G>T p.(Glu328*)" "" "Germline" "yes" "" "0" "" "" "g.94080595C>A" "" "pathogenic (recessive)" ""
"0000771062" "3" "70" "1" "94495083" "94495083" "subst" "0.000124542" "01695" "ABCA4_000542" "g.94495083G>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.4457C>T p.(Pro1486Leu)" "" "Germline" "" "" "0" "" "" "g.94029527G>A" "" "likely pathogenic (recessive)" ""
"0000771063" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.3386G>T p.(Arg1129Leu)" "" "Germline" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000771064" "0" "90" "1" "94508353" "94508353" "subst" "2.8431E-5" "01695" "ABCA4_000141" "g.94508353G>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.3292C>T p.(Arg1098Cys)" "" "Germline" "" "" "0" "" "" "g.94042797G>A" "" "pathogenic (recessive)" ""
"0000771065" "1" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.1804C>T p.(Arg602Trp)" "" "Germline" "yes" "" "0" "" "" "g.94062710G>A" "" "pathogenic (recessive)" ""
"0000771066" "0" "70" "1" "94474323" "94474323" "subst" "2.03034E-5" "01695" "ABCA4_000156" "g.94474323A>G" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.5819T>C p.(Leu1940Pro)" "" "Germline" "" "" "0" "" "" "g.94008767A>G" "" "likely pathogenic (recessive)" ""
"0000771067" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.3386G>T p.(Arg1129Leu)" "" "Germline" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000771068" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.3386G>T p.(Arg1129Leu)" "" "Germline" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000771069" "0" "90" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.634C>T p.(Arg212Cys)" "" "Germline" "" "" "0" "" "" "g.94098928G>A" "" "pathogenic (recessive)" ""
"0000771070" "1" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.3386G>T p.(Arg1129Leu)" "" "Germline" "yes" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000771071" "0" "90" "1" "94528304" "94528304" "subst" "0" "01695" "ABCA4_000288" "g.94528304C>T" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.1766G>A p.(Trp589*)" "" "Germline" "" "" "0" "" "" "g.94062748C>T" "" "pathogenic (recessive)" ""
"0000771072" "0" "70" "1" "94546259" "94546259" "subst" "0" "01695" "ABCA4_002155" "g.94546259T>G" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.874A>C p.(Ser292Arg)" "" "Germline" "" "" "0" "" "" "g.94080703T>G" "" "likely pathogenic (recessive)" ""
"0000771073" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.5882G>A p.(Gly1961Glu)" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000771074" "1" "90" "1" "94509026" "94509026" "subst" "4.06497E-5" "01695" "ABCA4_000660" "g.94509026G>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.3056C>T p.(Thr1019Met)" "" "Germline" "yes" "" "0" "" "" "g.94043470G>A" "" "pathogenic (recessive)" ""
"0000771075" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.3386G>T p.(Arg1129Leu)" "" "Germline" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000771076" "0" "90" "1" "94508435" "94508436" "dup" "0" "01695" "ABCA4_000998" "g.94508435_94508436dup" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.3210_3211dup p.(Ser1071Cysfs*14)" "" "Germline" "" "" "0" "" "" "g.94042879_94042880dup" "" "pathogenic (recessive)" ""
"0000771077" "1" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.[3322C>T;6320G>A] p.[Arg1108Cys;Arg2107His]" "" "Germline" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000771078" "0" "90" "1" "94497474" "94497474" "subst" "0" "01695" "ABCA4_000583" "g.94497474C>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.3988G>T p.(Glu1330*)" "" "Germline" "" "" "0" "" "" "g.94031918C>A" "" "pathogenic (recessive)" ""
"0000771079" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.3386G>T p.(Arg1129Leu)" "" "Germline" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000771080" "0" "70" "1" "94508368" "94508368" "subst" "0" "01695" "ABCA4_001930" "g.94508368C>T" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.3277G>A p.(Asp1093Asn)" "" "Germline" "" "" "0" "" "" "g.94042812C>T" "" "likely pathogenic (recessive)" ""
"0000771081" "0" "90" "1" "94508386" "94508386" "subst" "1.62443E-5" "01695" "ABCA4_000642" "g.94508386C>T" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.3259G>A p.(Glu108Lys)" "" "Germline" "" "" "0" "" "" "g.94042830C>T" "" "pathogenic (recessive)" ""
"0000771082" "0" "70" "1" "94586570" "94586570" "subst" "4.06101E-6" "01695" "ABCA4_000154" "g.94586570A>G" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.32T>C p.(Leu11Pro)" "" "Germline" "" "" "0" "" "" "g.94121014A>G" "" "likely pathogenic (recessive)" ""
"0000771083" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.3386G>T p.(Arg1129Leu)" "" "Germline" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000771084" "0" "70" "1" "94486896" "94486896" "subst" "3.65562E-5" "01695" "ABCA4_000085" "g.94486896G>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.4918C>T p.(Arg1640Trp)" "" "Germline" "" "" "0" "" "" "g.94021340G>A" "" "likely pathogenic (recessive)" ""
"0000771085" "0" "70" "1" "94546262" "94546262" "subst" "0" "01695" "ABCA4_000354" "g.94546262G>C" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.871C>G p.(Pro291Ala)" "" "Germline" "" "" "0" "" "" "g.94080706G>C" "" "likely pathogenic (recessive)" ""
"0000771086" "1" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.[3322C>T;6320G>A] p.[Arg1108Cys;Arg2107His]" "" "Germline" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000771087" "0" "70" "1" "94486896" "94486896" "subst" "3.65562E-5" "01695" "ABCA4_000085" "g.94486896G>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.4918C>T p.(Arg1640Trp)" "" "Germline" "" "" "0" "" "" "g.94021340G>A" "" "likely pathogenic (recessive)" ""
"0000771088" "0" "70" "1" "94577082" "94577082" "subst" "2.84315E-5" "01695" "ABCA4_000232" "g.94577082C>T" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.214G>A p.(Gly72Arg)" "" "Germline" "" "" "0" "" "" "g.94111526C>T" "" "likely pathogenic (recessive)" ""
"0000771089" "3" "90" "1" "94508386" "94508386" "subst" "1.62443E-5" "01695" "ABCA4_000642" "g.94508386C>T" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.3259G>A p.(Glu1087Lys)" "" "Germline" "" "" "0" "" "" "g.94042830C>T" "" "pathogenic (recessive)" ""
"0000771090" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.3386G>T p.(Arg1129Leu)" "" "Germline" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000771091" "1" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.[3322C>T;6320G>A] p.[Arg1108Cys;Arg2107His]" "" "Germline" "yes" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000771092" "1" "90" "1" "94564348" "94564348" "subst" "0" "01695" "ABCA4_002172" "g.94564348A>C" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.768+2T>G p.(?)" "" "Germline" "yes" "" "0" "" "" "g.94098792A>C" "" "pathogenic (recessive)" ""
"0000771093" "3" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.[3386G>T;6718A>G] p.[Arg1129Leu;Thr2240Ala]" "" "Germline" "yes" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000771094" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.3386G>T p.(Arg1129Leu)" "" "Germline" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000771095" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.3386G>T p.(Arg1129Leu)" "" "Germline" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000771096" "0" "70" "1" "94486895" "94486895" "subst" "3.24923E-5" "01695" "ABCA4_000484" "g.94486895C>T" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.4919G>A p.(Arg1640Gln)" "" "Germline" "" "" "0" "" "" "g.94021339C>T" "" "likely pathogenic (recessive)" ""
"0000771097" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.3386G>T p.(Arg1129Leu)" "" "Germline" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000771098" "3" "70" "1" "94495083" "94495083" "subst" "0.000124542" "01695" "ABCA4_000542" "g.94495083G>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.4457C>T p.(Pro1486Leu)" "" "Germline" "" "" "0" "" "" "g.94029527G>A" "" "likely pathogenic (recessive)" ""
"0000771099" "0" "90" "1" "94508435" "94508436" "dup" "0" "01695" "ABCA4_000998" "g.94508435_94508436dup" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.3210_3211dup p.(Ser1071Cysfs*14)" "" "Germline" "" "" "0" "" "" "g.94042879_94042880dup" "" "pathogenic (recessive)" ""
"0000771100" "3" "70" "1" "94480241" "94480241" "subst" "7.71705E-5" "01695" "ABCA4_000446" "g.94480241G>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.5318C>T p.(Ala1773Val)" "" "Germline" "" "" "0" "" "" "g.94014685G>A" "" "likely pathogenic (recessive)" ""
"0000771101" "0" "90" "1" "94508435" "94508436" "dup" "0" "01695" "ABCA4_000998" "g.94508435_94508436dup" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.3210_3211dup p.(Ser1071Cysfs*14)" "" "Germline" "" "" "0" "" "" "g.94042879_94042880dup" "" "pathogenic (recessive)" ""
"0000771102" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.1804C>T p.(Arg602Trp)" "" "Germline" "" "" "0" "" "" "g.94062710G>A" "" "pathogenic (recessive)" ""
"0000771103" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.2588G>C p.[Gly863Ala,Gly863del]" "" "Germline" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000771104" "0" "70" "1" "94528819" "94528819" "subst" "2.03128E-5" "01695" "ABCA4_000078" "g.94528819G>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.1609C>T p.(Arg537Cys)" "" "Germline" "" "" "0" "" "" "g.94063263G>A" "" "likely pathogenic (recessive)" ""
"0000771105" "3" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.3386G>T p.(Arg1129Leu)" "" "Germline" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000771106" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.[1622T>C;3113C>T] p.[Leu541Pro;Ala1038Val]" "" "Germline" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000771107" "3" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.3386G>T p.(Arg1129Leu)" "" "Germline" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000771108" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.3386G>T p.(Arg1129Leu)" "" "Germline" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000771109" "0" "70" "1" "94528217" "94528217" "subst" "0" "01695" "ABCA4_002076" "g.94528217C>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.1853G>T p.(Gly618Val)" "" "Germline" "" "" "0" "" "" "g.94062661C>A" "" "likely pathogenic (recessive)" ""
"0000771110" "0" "70" "1" "94496509" "94496509" "subst" "0.00475243" "01695" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.4253+43G>A p.[=, Ile1377Hisfs*3]" "" "Germline" "" "" "0" "" "" "g.94030953C>T" "" "likely pathogenic (recessive)" ""
"0000771111" "3" "90" "1" "94528223" "94528223" "del" "0" "01695" "ABCA4_000274" "g.94528223del" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.1848del p.(Glu616Aspfs*33)" "" "Germline" "yes" "" "0" "" "" "g.94062667del" "" "pathogenic (recessive)" ""
"0000771112" "3" "50" "1" "94480146" "94480146" "subst" "2.84273E-5" "01695" "ABCA4_000122" "g.94480146T>C" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.5413A>G p.(Asn1805Asp)" "" "Germline" "yes" "" "0" "" "" "g.94014590T>C" "" "VUS" ""
"0000771113" "1" "90" "1" "94546185" "94546185" "del" "0" "01695" "ABCA4_000350" "g.94546185del" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.950del p.(Gly317Alafs*57)" "" "Germline" "yes" "" "0" "" "" "g.94080629del" "" "pathogenic (recessive)" ""
"0000771114" "1" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.3386G>T p.(Arg1129Leu)" "" "Germline" "yes" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000771115" "1" "90" "1" "94577011" "94577011" "del" "0" "01695" "ABCA4_000160" "g.94577011del" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.287del p.(Asn96Thrfs*19)" "" "Germline" "yes" "" "0" "" "" "g.94111455del" "" "pathogenic (recessive)" ""
"0000771116" "3" "70" "1" "94522254" "94522254" "subst" "0" "01695" "ABCA4_000742" "g.94522254G>T" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.2285C>A p.(Ala762Glu)" "" "Germline" "yes" "" "0" "" "" "g.94056698G>T" "" "likely pathogenic (recessive)" ""
"0000771117" "3" "90" "1" "94502295" "94502295" "subst" "0" "01695" "ABCA4_000589" "g.94502295C>T" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.3862+1G>A p.(?)" "" "Germline" "" "" "0" "" "" "g.94036739C>T" "" "pathogenic (recessive)" ""
"0000771118" "0" "90" "1" "94512507" "94512507" "del" "0" "01695" "ABCA4_000155" "g.94512507del" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.2888del p.(Gly963Alafs*14)" "" "Germline" "" "" "0" "" "" "g.94046951del" "" "pathogenic (recessive)" ""
"0000771119" "0" "70" "1" "94508358" "94508358" "subst" "4.06167E-6" "01695" "ABCA4_000636" "g.94508358G>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.3287C>T p.(Ser1096Leu)" "" "Germline" "" "" "0" "" "" "g.94042802G>A" "" "likely pathogenic (recessive)" ""
"0000771120" "3" "90" "1" "94520686" "94520686" "subst" "0" "01695" "ABCA4_000710" "g.94520686G>T" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.2568C>A p.(Tyr856*)" "" "Germline" "" "" "0" "" "" "g.94055130G>T" "" "pathogenic (recessive)" ""
"0000771121" "3" "90" "1" "94508435" "94508436" "dup" "0" "01695" "ABCA4_000998" "g.94508435_94508436dup" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.3210_3211dup p.(Ser1071Cysfs*14)" "" "Germline" "" "" "0" "" "" "g.94042879_94042880dup" "" "pathogenic (recessive)" ""
"0000771122" "3" "90" "1" "94508435" "94508436" "dup" "0" "01695" "ABCA4_000998" "g.94508435_94508436dup" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.3210_3211dup p.(Ser1071Cysfs*14)" "" "Germline" "" "" "0" "" "" "g.94042879_94042880dup" "" "pathogenic (recessive)" ""
"0000771123" "3" "90" "1" "94495009" "94495009" "dup" "0" "01695" "ABCA4_000087" "g.94495009dup" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.4537dup p.(Gln1513Profs*42)" "" "Germline" "" "" "0" "" "" "g.94029453dup" "" "pathogenic (recessive)" ""
"0000771124" "0" "90" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.634C>T p.(Arg212Cys)" "" "Germline" "" "" "0" "" "" "g.94098928G>A" "" "pathogenic (recessive)" ""
"0000771125" "0" "70" "1" "94512515" "94512515" "subst" "2.03171E-5" "01695" "ABCA4_001983" "g.94512515C>T" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.2878G>A p.(Ala960Thr)" "" "Germline" "" "" "0" "" "" "g.94046959C>T" "" "likely pathogenic (recessive)" ""
"0000771126" "0" "90" "1" "94564447" "94564447" "del" "0" "01695" "ABCA4_000138" "g.94564447del" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.671del p.(Thr224Argfs*17)" "" "Germline" "" "" "0" "" "" "g.94098891del" "" "pathogenic (recessive)" ""
"0000771127" "3" "90" "1" "94564011" "94564421" "del" "0" "01695" "ABCA4_002170" "g.94564011_94564421del" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.699_768+341del p.(Gln234Phefs*5)" "" "Germline" "" "" "0" "" "" "g.94098455_94098865del" "" "pathogenic (recessive)" ""
"0000771128" "0" "90" "1" "94564011" "94564421" "del" "0" "01695" "ABCA4_002170" "g.94564011_94564421del" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.699_768+341del p.(Gln234Phefs*5)" "" "Germline" "" "" "0" "" "" "g.94098455_94098865del" "" "pathogenic (recessive)" ""
"0000771129" "1" "90" "1" "94512507" "94512507" "del" "0" "01695" "ABCA4_000155" "g.94512507del" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.2888del p.(Gly963Alafs*14)" "" "Germline" "yes" "" "0" "" "" "g.94046951del" "" "pathogenic (recessive)" ""
"0000771130" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.3386G>T p.(Arg1129Leu)" "" "Germline" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000771131" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.3386G>T p.(Arg1129Leu)" "" "Germline" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000771132" "3" "70" "1" "94496547" "94496547" "subst" "1.21904E-5" "01695" "ABCA4_000560" "g.94496547C>T" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.4253+5G>A p.(Ile1377Hisfs*3)" "" "Germline" "" "" "0" "" "" "g.94030991C>T" "" "likely pathogenic (recessive)" ""
"0000771133" "0" "70" "1" "94467517" "94467517" "subst" "0" "01695" "ABCA4_000786" "g.94467517A>C" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.6179T>G p.(Leu2060Arg)" "" "Germline" "" "" "0" "" "" "g.94001961A>C" "" "likely pathogenic (recessive)" ""
"0000771134" "3" "90" "1" "94487401" "94487401" "subst" "0" "01695" "ABCA4_000495" "g.94487401C>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.4773+1G>T p.(?)" "" "Germline" "" "" "0" "" "" "g.94021845C>A" "" "pathogenic (recessive)" ""
"0000771135" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.3386G>T p.(Arg1129Leu)" "" "Germline" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000771136" "0" "70" "1" "94506867" "94506867" "subst" "0" "01695" "ABCA4_001296" "g.94506867G>C" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.3420C>G p.(Cys1140Trp)" "" "Germline" "" "" "0" "" "" "g.94041311G>C" "" "likely pathogenic (recessive)" ""
"0000771137" "3" "70" "1" "94508892" "94508892" "subst" "0" "01695" "ABCA4_001378" "g.94508892C>G" "" "{PMID:Hao 2020:32399422}" "" "NM_000350: c.G3190C, p.G1064R" "" "Germline" "yes" "" "0" "" "" "g.94043336C>G" "" "likely pathogenic (recessive)" ""
"0000771138" "3" "90" "1" "94564383" "94564383" "subst" "0" "01695" "ABCA4_000371" "g.94564383A>C" "" "{PMID:Toulis 2020:32244552}" "" "c.735T>G" "" "Germline" "" "" "0" "" "" "g.94098827A>C" "" "pathogenic (recessive)" ""
"0000771139" "3" "90" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Toulis 2020:32244552}" "" "c.2894A>G" "" "Germline" "" "" "0" "" "" "g.94046943T>C" "" "pathogenic (recessive)" ""
"0000771140" "3" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "" "{PMID:Wang 2014:25097241}" "" "c.4469G>A (p.C1490Y)" "" "Germline" "" "" "0" "" "" "g.94029515C>T" "" "likely pathogenic (recessive)" ""
"0000771141" "1" "50" "1" "94544140" "94544141" "ins" "0.000938872" "01695" "ABCA4_001241" "g.94544140_94544141insG" "" "{PMID:Wang 2014:25097241}" "" "c.1365+5_+6insC" "" "Germline" "" "" "0" "" "" "g.94078584_94078585insG" "" "VUS" ""
"0000771142" "1" "70" "1" "94506902" "94506902" "subst" "1.21834E-5" "01695" "ABCA4_000623" "g.94506902G>A" "" "{PMID:Wang 2014:25097241}" "" "c.3385C>T (p.R1129C)" "" "Germline" "" "" "0" "" "" "g.94041346G>A" "" "likely pathogenic (recessive)" ""
"0000771143" "1" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Wang 2014:25097241}" "" "c.2588G>C" "" "Germline" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000771144" "1" "90" "1" "94485137" "94485137" "subst" "0" "01695" "ABCA4_000464" "g.94485137C>T" "" "{PMID:Wang 2014:25097241}" "" "c.5196+1G>A c.5882G>A" "" "Germline" "" "" "0" "" "" "g.94019581C>T" "" "pathogenic (recessive)" ""
"0000771145" "1" "10" "1" "94512565" "94512565" "subst" "0.030364" "01695" "ABCA4_000002" "g.94512565C>T" "" "{PMID:Wang 2014:25097241}" "" "c.2828G>A c.2588G>C" "" "Germline" "" "" "0" "" "" "g.94047009C>T" "" "benign" ""
"0000771146" "3" "70" "1" "94574147" "94574147" "subst" "8.12236E-6" "01695" "ABCA4_000213" "g.94574147G>A" "" "{PMID:Consugar 2015:25412400}" "" "c.428C>T p.(Pro143Leu)" "" "Germline" "" "" "0" "" "" "g.94108591G>A" "" "likely pathogenic (recessive)" ""
"0000771147" "3" "70" "1" "94463399" "94463413" "del" "0" "01695" "ABCA4_000851" "g.94463399_94463413del" "" "{PMID:Consugar 2015:25412400}" "" "c.6729+5_6729+19del15" "" "Germline" "" "" "0" "" "" "g.93997843_93997857del" "" "likely pathogenic (recessive)" ""
"0000771148" "0" "70" "1" "94486895" "94486895" "subst" "3.24923E-5" "01695" "ABCA4_000484" "g.94486895C>T" "" "{PMID:Consugar 2015:25412400}" "" "c.4919G>A p.(Arg1640Gln)" "" "Germline" "" "" "0" "" "" "g.94021339C>T" "" "likely pathogenic (recessive)" ""
"0000771149" "3" "70" "1" "94495083" "94495083" "subst" "0.000124542" "01695" "ABCA4_000542" "g.94495083G>A" "" "{PMID:Consugar 2015:25412400}" "" "c.4457C>T p.(Pro1486Leu)" "" "Germline" "" "" "0" "" "" "g.94029527G>A" "" "likely pathogenic (recessive)" ""
"0000771150" "0" "70" "1" "94467475" "94467475" "subst" "1.62463E-5" "01695" "ABCA4_001599" "g.94467475C>T" "" "{PMID:Consugar 2015:25412400}" "" "c.6221G>A p.(Gly2074Asp)" "" "Germline" "" "" "0" "" "" "g.94001919C>T" "" "likely pathogenic (recessive)" ""
"0000771151" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Consugar 2015:25412400}" "" "c.[3113G>A; 622A>G] p.[(Ala1038Val; Leu541Pro)]" "" "Germline" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000771152" "1" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Consugar 2015:25412400}" "" "c.[5882G>A; 4139C>T] p.[(Gly1961Glu; Pro1380Leu)]" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000771153" "1" "70" "1" "94463583" "94463583" "subst" "8.12183E-6" "01695" "ABCA4_000806" "g.94463583A>G" "" "{PMID:Consugar 2015:25412400}" "" "c.[6563T>C; 4283C>T] p.[(Phe2188Ser; Thr1428Met)]" "" "Germline" "" "" "0" "" "" "g.93998027A>G" "" "likely pathogenic (recessive)" ""
"0000771154" "0" "70" "1" "94490567" "94490567" "subst" "5.68528E-5" "01695" "ABCA4_000026" "g.94490567G>A" "" "{PMID:Consugar 2015:25412400}" "" "c.4577C>T p.(Thr1562Met)" "" "Germline" "" "" "0" "" "" "g.94025011G>A" "" "likely pathogenic (recessive)" ""
"0000771155" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Consugar 2015:25412400}" "" "c.5882G>A p.(Gly1961Glu)" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000771156" "0" "90" "1" "94510248" "94510248" "subst" "0.000544123" "01695" "ABCA4_000107" "g.94510248C>G" "" "{PMID:Consugar 2015:25412400}" "" "c.2971G>C p.(Gly991Arg)" "" "Germline" "" "" "0" "" "" "g.94044692C>G" "" "pathogenic (recessive)" ""
"0000771157" "0" "50" "1" "94467548" "94467548" "subst" "0.00295661" "01695" "ABCA4_000788" "g.94467548C>G" "" "{PMID:Consugar 2015:25412400}" "" "c.6148G>C p.(Val2050Leu)" "" "Germline" "" "" "0" "" "" "g.94001992C>G" "" "VUS" ""
"0000771158" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Consugar 2015:25412400}" "" "c.5461-10T>C r. spl" "" "Germline" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000771159" "0" "50" "1" "94471025" "94471025" "subst" "0.00031698" "01695" "ABCA4_000096" "g.94471025C>T" "" "{PMID:Consugar 2015:25412400}" "" "c.6119G>A p.(Arg2040Gln)" "" "Germline" "" "" "0" "" "" "g.94005469C>T" "" "VUS" ""
"0000771160" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Consugar 2015:25412400}" "" "c.5882G>A p.(Gly1961Glu)" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000771161" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Consugar 2015:25412400}" "" "c.5461-10T>C r. spl" "" "Germline" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000771162" "1" "90" "1" "94520830" "94520830" "subst" "0" "01695" "ABCA4_000727" "g.94520830G>C" "" "{PMID:Liu 2015:25611614}" "" "c.[2424G>C];" "" "Germline" "" "" "0" "" "" "g.94055274G>C" "" "pathogenic (recessive)" ""
"0000771163" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:van Huet 2015:25999674}" "" "c.5882G>A; p.Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000771164" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:van Huet 2015:25999674}" "" "c.5461–10T>C; splicing c.6155del; p.Asn2052fs" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000771165" "0" "50" "1" "94485278" "94485278" "subst" "0.000487317" "01695" "ABCA4_000101" "g.94485278C>T" "" "{PMID:van Huet 2015:25999674}" "" "c.5056G>A; p.Val1686Met c.6730–19G>A; splicing" "" "Unknown" "" "" "0" "" "" "g.94019722C>T" "" "VUS" ""
"0000771166" "3" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:van Huet 2015:25999674}" "" "c.1622T>C; p.Leu541Pro c.3113C>T; p.Ala1038Val (both homozygously present)" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000771167" "3" "90" "1" "94480169" "94480170" "del" "0" "01695" "ABCA4_001266" "g.94480169_94480170del" "" "{PMID:Patel 2016:26355662}" "" "NM_000350.2:c.5391_5392del; p.Ala1798*" "" "Unknown" "" "" "0" "" "" "g.94014613_94014614del" "" "pathogenic (recessive)" ""
"0000771168" "3" "70" "1" "94486947" "94486947" "subst" "0" "01695" "ABCA4_001547" "g.94486947C>G" "" "{PMID:Patel 2016:26355662}" "" "NM_000350.2:c.4867G>C; p.Gly1623Arg" "" "Unknown" "" "" "0" "" "" "g.94021391C>G" "" "likely pathogenic (recessive)" ""
"0000771169" "3" "90" "1" "94528795" "94528798" "dup" "0" "01695" "ABCA4_001550" "g.94528795_94528798dup" "" "{PMID:Patel 2016:26355662}" "" "NM_000350.2:c.1630_1633dup; p.Asn545Argfs*12" "" "Unknown" "" "" "0" "" "" "g.94063239_94063242dup" "" "pathogenic (recessive)" ""
"0000771170" "3" "90" "1" "94528795" "94528798" "dup" "0" "01695" "ABCA4_001550" "g.94528795_94528798dup" "" "{PMID:Patel 2016:26355662}" "" "NM_000350.2:c.1630_1633dup; p.Asn545Argfs*12" "" "Unknown" "" "" "0" "" "" "g.94063239_94063242dup" "" "pathogenic (recessive)" ""
"0000771171" "0" "90" "1" "94512578" "94512578" "subst" "0" "01695" "ABCA4_001549" "g.94512578C>A" "" "{PMID:Patel 2016:26355662}" "" "NM_000350.2:c.2815G>T; p.Glu939*" "" "Unknown" "" "" "0" "" "" "g.94047022C>A" "" "pathogenic (recessive)" ""
"0000771172" "3" "90" "1" "94528795" "94528798" "dup" "0" "01695" "ABCA4_001550" "g.94528795_94528798dup" "" "{PMID:Patel 2016:26355662}" "" "NM_000350.2:c.1630_1633dup; p.Asn545Argfs*12" "" "Unknown" "" "" "0" "" "" "g.94063239_94063242dup" "" "pathogenic (recessive)" ""
"0000771173" "0" "50" "1" "94543268" "94543268" "subst" "0.000778106" "01695" "ABCA4_000306" "g.94543268C>T" "" "{PMID:Patel 2016:26355662}" "" "NM_000350.2:c.1532G>A; p.Arg511His" "" "Unknown" "" "" "0" "" "" "g.94077712C>T" "" "VUS" ""
"0000771174" "0" "50" "1" "94544977" "94544977" "subst" "0.000544432" "01695" "ABCA4_000332" "g.94544977A>T" "" "{PMID:Patel 2016:26355662}" "" "NM_000350.2:c.1140T>A; p.Asn380Lys" "" "Unknown" "" "" "0" "" "" "g.94079421A>T" "" "VUS" ""
"0000771175" "3" "90" "1" "94466658" "94466658" "subst" "8.14817E-6" "01695" "ABCA4_000132" "g.94466658C>T" "" "{PMID:Patel 2016:26355662}" "" "NM_000350.2:c.6286G>A; p.Glu2096Lys" "" "Unknown" "" "" "0" "" "" "g.94001102C>T" "" "pathogenic (recessive)" ""
"0000771176" "3" "70" "1" "94486962" "94486962" "subst" "0" "01695" "ABCA4_001548" "g.94486962A>T" "" "{PMID:Patel 2016:26355662}" "" "NM_000350.2:c.4852T>A; p.Trp1618Arg" "" "Unknown" "" "" "0" "" "" "g.94021406A>T" "" "likely pathogenic (recessive)" ""
"0000771177" "3" "70" "1" "94486947" "94486947" "subst" "0" "01695" "ABCA4_001547" "g.94486947C>G" "" "{PMID:Patel 2016:26355662}" "" "NM_000350.2:c.4867G>C; p.Gly1623Arg" "" "Unknown" "" "" "0" "" "" "g.94021391C>G" "" "likely pathogenic (recessive)" ""
"0000771178" "3" "90" "1" "94480169" "94480170" "del" "0" "01695" "ABCA4_001266" "g.94480169_94480170del" "" "{PMID:Patel 2016:26355662}" "" "NM_000350.2:c.5391_5392del; p.Ala1798*" "" "Unknown" "" "" "0" "" "" "g.94014613_94014614del" "" "pathogenic (recessive)" ""
"0000771179" "3" "70" "1" "94522245" "94522245" "subst" "0" "01695" "ABCA4_000740" "g.94522245C>T" "" "{PMID:Patel 2016:26355662}" "" "NM_000350.2:c.2294G>A; p.Ser765Asn" "" "Unknown" "" "" "0" "" "" "g.94056689C>T" "" "likely pathogenic (recessive)" ""
"0000771180" "0" "50" "1" "94495994" "94495994" "subst" "0.00019493" "01695" "ABCA4_000548" "g.94495994C>T" "" "{PMID:Retterer 2016:26633542}" "" "c.4342G>A p.G1448R" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94030438C>T" "" "VUS" ""
"0000771181" "0" "70" "1" "94578619" "94578619" "subst" "2.85088E-5" "01695" "ABCA4_000253" "g.94578619G>A" "" "{PMID:Retterer 2016:26633542}" "" "c.70C>T p.R24C" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94113063G>A" "" "likely pathogenic (recessive)" ""
"0000771182" "0" "90" "1" "94564463" "94564463" "subst" "0" "01695" "ABCA4_000381" "g.94564463T>A" "" "{PMID:Retterer 2016:26633542}" "" "c.655A>T p.R219*" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94098907T>A" "" "pathogenic (recessive)" ""
"0000771183" "0" "70" "1" "94484001" "94484001" "subst" "0" "01695" "ABCA4_000016" "g.94484001C>T" "" "{PMID:Weisschuh 2016:26766544}" "" "c.5196+1137G>A$ p.?" "" "Unknown" "" "" "0" "" "" "g.94018445C>T" "" "likely pathogenic (recessive)" ""
"0000771184" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Weisschuh 2016:26766544}" "" "c.2588G>C p.G863A" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000771185" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Weisschuh 2016:26766544}" "" "c.4139C>T p.P1380L" "" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000771186" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Weisschuh 2016:26766544}" "" "c.1622A>G p.L541P" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000771187" "0" "50" "1" "94543268" "94543268" "subst" "0.000778106" "01695" "ABCA4_000306" "g.94543268C>T" "" "{PMID:Abouelhoda 2016:27124789}" "" "c.G1532A:p.R511H" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94077712C>T" "" "VUS" ""
"0000771188" "0" "50" "1" "94544977" "94544977" "subst" "0.000544432" "01695" "ABCA4_000332" "g.94544977A>T" "" "{PMID:Abouelhoda 2016:27124789}" "" "c.T1140A:p.N380K" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94079421A>T" "" "VUS" ""
"0000771189" "0" "90" "1" "94528795" "94528798" "dup" "0" "01695" "ABCA4_001550" "g.94528795_94528798dup" "" "{PMID:Abouelhoda 2016:27124789}" "" "c.1633_1634insGAAA:p.N545fs" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94063239_94063242dup" "" "pathogenic (recessive)" ""
"0000771190" "0" "90" "1" "94512578" "94512578" "subst" "0" "01695" "ABCA4_001549" "g.94512578C>A" "" "{PMID:Abouelhoda 2016:27124789}" "" "c.G2815T:p.E939X" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94047022C>A" "" "pathogenic (recessive)" ""
"0000771191" "0" "90" "1" "94466658" "94466658" "subst" "8.14817E-6" "01695" "ABCA4_000132" "g.94466658C>T" "" "{PMID:Abouelhoda 2016:27124789}" "" "c.G6286A:p.E2096K" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94001102C>T" "" "pathogenic (recessive)" ""
"0000771192" "0" "90" "1" "94480169" "94480170" "del" "0" "01695" "ABCA4_001266" "g.94480169_94480170del" "" "{PMID:Abouelhoda 2016:27124789}" "" "c.5391_5392del:p.1797_1798del" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94014613_94014614del" "" "pathogenic (recessive)" ""
"0000771193" "0" "70" "1" "94486962" "94486962" "subst" "0" "01695" "ABCA4_001548" "g.94486962A>T" "" "{PMID:Abouelhoda 2016:27124789}" "" "c.T4852A:p.W1618R" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94021406A>T" "" "likely pathogenic (recessive)" ""
"0000771194" "0" "70" "1" "94486947" "94486947" "subst" "0" "01695" "ABCA4_001547" "g.94486947C>G" "" "{PMID:Abouelhoda 2016:27124789}" "" "c.G4867C:p.G1623R" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94021391C>G" "" "likely pathogenic (recessive)" ""
"0000771195" "0" "90" "1" "94508986" "94508986" "del" "0" "01695" "ABCA4_001428" "g.94508986del" "" "{PMID:Ellingford 2016:27208204}" "" "ABCA4 c.3098delA het" "" "Unknown" "yes" "" "0" "" "" "g.94043430del" "" "pathogenic (recessive)" ""
"0000771196" "0" "90" "1" "94473278" "94473278" "del" "3.25908E-5" "01695" "ABCA4_000392" "g.94473278del" "" "{PMID:Ellingford 2016:27208204}" "" "ABCA4 c.5917delG het" "" "Unknown" "yes" "" "0" "" "" "g.94007722del" "" "pathogenic (recessive)" ""
"0000771197" "0" "70" "1" "94466422" "94466422" "subst" "2.43651E-5" "01695" "ABCA4_000817" "g.94466422C>T" "" "{PMID:Ellingford 2016:27208204}" "" "ABCA4 c.6449G>A p.(Cys2150Tyr) het" "" "Unknown" "" "" "0" "" "" "g.94000866C>T" "" "likely pathogenic (recessive)" ""
"0000771198" "3" "70" "1" "94528819" "94528819" "subst" "2.03128E-5" "01695" "ABCA4_000078" "g.94528819G>A" "" "{PMID:Ellingford 2016:27208204}" "" "ABCA4 c.1609C>T p.(Arg537Cys) hom" "" "Unknown" "" "" "0" "" "" "g.94063263G>A" "" "likely pathogenic (recessive)" ""
"0000771199" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Ellingford 2016:27208204}" "" "ABCA4 c.3113C>T p.(Ala1038Val) het" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000771200" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Ellingford 2016:27208204}" "" "ABCA4 c.5882G>A p.(Gly1961Glu) het" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000771201" "0" "90" "1" "94480243" "94480243" "subst" "4.06124E-6" "01695" "ABCA4_000448" "g.94480243C>T" "" "{PMID:Ellingford 2016:27208204}" "" "ABCA4 c.5316G>A p.(Trp1772Ter) het" "" "Unknown" "" "" "0" "" "" "g.94014687C>T" "" "pathogenic (recessive)" ""
"0000771202" "0" "50" "1" "94514477" "94514477" "subst" "0.00118992" "01695" "ABCA4_000700" "g.94514477G>A" "" "{PMID:Ellingford 2016:27208204}" "" "ABCA4 c.2690C>T p.(Thr897Ile) het" "" "Unknown" "" "" "0" "" "" "g.94048921G>A" "" "VUS" ""
"0000771203" "3" "90" "1" "94506945" "94506945" "del" "0" "01695" "ABCA4_001516" "g.94506945del" "" "{PMID:Ellingford 2016:27208204}" "" "ABCA4 c.3342delC hom" "" "Unknown" "" "" "0" "" "" "g.94041389del" "" "pathogenic (recessive)" ""
"0000771204" "0" "70" "1" "94490567" "94490567" "subst" "5.68528E-5" "01695" "ABCA4_000026" "g.94490567G>A" "" "{PMID:Ellingford 2016:27208204}" "" "ABCA4 c.4577C>T p.(Thr1526Met) het" "" "Unknown" "yes" "" "0" "" "" "g.94025011G>A" "" "likely pathogenic (recessive)" ""
"0000771205" "0" "90" "1" "94528164" "94528164" "subst" "2.03336E-5" "01695" "ABCA4_000267" "g.94528164G>A" "" "{PMID:Ellingford 2016:27208204}" "" "ABCA4 c.1906C>T p.(Gln636Ter) het" "" "Unknown" "" "" "0" "" "" "g.94062608G>A" "" "pathogenic (recessive)" ""
"0000771206" "3" "70" "1" "94485164" "94485164" "subst" "0" "01695" "ABCA4_001515" "g.94485164A>G" "" "{PMID:Ellingford 2016:27208204}" "" "ABCA4 c.5170T>C p.(Trp1724Arg) hom" "" "Unknown" "" "" "0" "" "" "g.94019608A>G" "" "likely pathogenic (recessive)" ""
"0000771207" "0" "50" "1" "94473287" "94473287" "subst" "0.00293818" "01695" "ABCA4_000395" "g.94473287G>A" "" "{PMID:Ellingford 2016:27208204}" "" "ABCA4 c.5908C>T p.(Leu1970Phe) het" "" "Unknown" "" "" "0" "" "" "g.94007731G>A" "" "VUS" ""
"0000771208" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Ellingford 2016:27208204}" "" "ABCA4 c.5882G>A p.(Gly1961Glu) het" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000771209" "0" "70" "1" "94471037" "94471037" "subst" "0" "01695" "ABCA4_001062" "g.94471037T>C" "" "{PMID:Ellingford 2016:27208204}" "" "ABCA4 c.6107A>G p.(Tyr2036Cys) het" "" "Unknown" "" "" "0" "" "" "g.94005481T>C" "" "likely pathogenic (recessive)" ""
"0000771210" "3" "90" "1" "94463488" "94463488" "subst" "5.2803E-5" "01695" "ABCA4_000802" "g.94463488G>A" "" "{PMID:Ellingford 2016:27208204}" "" "ABCA4 c.6658C>T p.(Gln2220Ter) hom" "" "Unknown" "" "" "0" "" "" "g.93997932G>A" "" "pathogenic (recessive)" ""
"0000771211" "3" "90" "1" "94508386" "94508386" "subst" "1.62443E-5" "01695" "ABCA4_000642" "g.94508386C>T" "" "{PMID:Ellingford 2016:27208204}" "" "ABCA4 c.3259G>A p.(Glu1087Lys) hom" "" "Unknown" "" "" "0" "" "" "g.94042830C>T" "" "pathogenic (recessive)" ""
"0000771212" "0" "50" "1" "94496010" "94496010" "subst" "1.62434E-5" "01695" "ABCA4_000549" "g.94496010G>T" "" "{PMID:Ellingford 2016:27208204}" "" "ABCA4 c.4326C>A p.(Asn1442Lys) het" "" "Unknown" "" "" "0" "" "" "g.94030454G>T" "" "VUS" ""
"0000771213" "0" "90" "1" "94528164" "94528164" "subst" "2.03336E-5" "01695" "ABCA4_000267" "g.94528164G>A" "" "{PMID:Ellingford 2016:27208204}" "" "ABCA4 c.1906C>T p.(Gln636Ter) het" "" "Unknown" "" "" "0" "" "" "g.94062608G>A" "" "pathogenic (recessive)" ""
"0000771214" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Ellingford 2016:27208204}" "" "ABCA4 c.5882G>A p.(Gly1961Glu) het" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000771215" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Tiwari 2016:27353947}" "" "NM_000350.2:c.5882G>A:p.Gly1961Glu;" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000771216" "3" "70" "1" "94486941" "94486941" "subst" "0" "01695" "ABCA4_001420" "g.94486941G>A" "" "{PMID:Tiwari 2016:27353947}" "" "NM_000350.2:c.4873C>T:p.His1625Tyr" "" "Unknown" "" "" "0" "" "" "g.94021385G>A" "" "likely pathogenic (recessive)" ""
"0000771217" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Tiwari 2016:27353947}" "" "NM_000350.2:c.5882G>A:p.Gly1961Glu;" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000771218" "11" "90" "1" "94526265" "94526265" "subst" "0" "01695" "ABCA4_000143" "g.94526265C>T" "" "{PMID:Tiwari 2016:27353947}" "" "NM_000350.2:c.1988G>A:p.Trp663*;" "" "Unknown" "yes" "" "0" "" "" "g.94060709C>T" "" "pathogenic (recessive)" ""
"0000771219" "0" "70" "1" "94480178" "94480178" "subst" "2.43692E-5" "01695" "ABCA4_000005" "g.94480178G>T" "" "{PMID:Tiwari 2016:27353947}" "" "NM_000350.2:c.5381C>A:p.Ala1794Asp;" "" "Unknown" "" "" "0" "" "" "g.94014622G>T" "" "likely pathogenic (recessive)" ""
"0000771220" "11" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Tiwari 2016:27353947}" "" "NM_000350.2:c.5882G>A:p.Gly1961Glu;" "" "Unknown" "yes" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000771221" "0" "70" "1" "94471022" "94471022" "subst" "0" "01695" "ABCA4_000790" "g.94471022C>T" "" "{PMID:Tiwari 2016:27353947}" "" "NM_000350.2:c.6122G>A:p.Gly2041Asp;" "" "Unknown" "" "" "0" "" "" "g.94005466C>T" "" "likely pathogenic (recessive)" ""
"0000771222" "0" "70" "1" "94467517" "94467517" "subst" "0" "01695" "ABCA4_000786" "g.94467517A>C" "" "{PMID:Zhang 2016:27596865}" "" "c.T6179G (p.L2060R)" "" "Unknown" "" "" "0" "" "" "g.94001961A>C" "" "likely pathogenic (recessive)" ""
"0000771223" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:de Castro-Miró 2016:28005958}" "" "c.3386G>T p.R1129L" "" "Unknown" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000771224" "0" "70" "1" "94486896" "94486896" "subst" "3.65562E-5" "01695" "ABCA4_000085" "g.94486896G>A" "" "{PMID:Carss 2017:28041643}" "" "ENST00000370225.3:c.4918C>T p.Arg1640Trp 0/1" "" "Unknown" "" "" "0" "" "" "g.94021340G>A" "" "likely pathogenic (recessive)" ""
"0000771225" "3" "90" "1" "94463488" "94463488" "subst" "5.2803E-5" "01695" "ABCA4_000802" "g.94463488G>A" "" "{PMID:Carss 2017:28041643}" "" "ENST00000370225.3:c.6658C>T p.Gln2220Ter 1/1" "" "Unknown" "" "" "0" "" "" "g.93997932G>A" "" "pathogenic (recessive)" ""
"0000771226" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Carss 2017:28041643}" "" "ENST00000370225.3:c.5882G>A p.Gly1961Glu 0/1" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000771227" "0" "70" "1" "94506923" "94506923" "subst" "2.43657E-5" "01695" "ABCA4_000012" "g.94506923C>T" "" "{PMID:Carss 2017:28041643}" "" "ENST00000370225.3:c.3364G>A p.Glu1122Lys 0/1" "" "Unknown" "" "" "0" "" "" "g.94041367C>T" "" "likely pathogenic (recessive)" ""
"0000771228" "0" "70" "1" "94512478" "94512478" "subst" "3.65871E-5" "01695" "ABCA4_000678" "g.94512478G>T" "" "{PMID:Carss 2017:28041643}" "" "ENST00000370225.3:c.2915C>A p.Thr972Asn 0/1" "" "Unknown" "" "" "0" "" "" "g.94046922G>T" "" "likely pathogenic (recessive)" ""
"0000771229" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Carss 2017:28041643}" "" "ENST00000370225.3:c.5461-10T>C NA 0/1" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000771230" "0" "50" "1" "94512580" "94512580" "subst" "2.8431E-5" "01695" "ABCA4_000695" "g.94512580A>G" "" "{PMID:Carss 2017:28041643}" "" "ENST00000370225.3:c.2813T>C p.Phe938Ser 0/1" "" "Unknown" "" "" "0" "" "" "g.94047024A>G" "" "VUS" ""
"0000771231" "0" "70" "1" "94467470" "94467470" "subst" "0" "01695" "ABCA4_001397" "g.94467470T>C" "" "{PMID:Carss 2017:28041643}" "" "ENST00000370225.3:c.6226A>G p.Lys2076Glu 0/1" "" "Unknown" "" "" "0" "" "" "g.94001914T>C" "" "likely pathogenic (recessive)" ""
"0000771232" "3" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Carss 2017:28041643}" "" "ENST00000370225.3:c.5461-10T>C NA 1/1" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000771233" "3" "90" "1" "94546248" "94546248" "del" "2.03666E-5" "01695" "ABCA4_000352" "g.94546248del" "" "{PMID:Carss 2017:28041643}" "" "ENST00000370225.3:c.885delC p.Leu296CysfsTer4 1/1" "" "Unknown" "" "" "0" "" "" "g.94080692del" "" "pathogenic (recessive)" ""
"0000771234" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Carss 2017:28041643}" "" "ENST00000370225.3:c.5461-10T>C NA 0/1" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000771235" "0" "70" "1" "94471046" "94471046" "subst" "0" "01695" "ABCA4_000793" "g.94471046A>C" "" "{PMID:Carss 2017:28041643}" "" "ENST00000370225.3:c.6098T>G p.Leu2033Arg 0/1" "" "Unknown" "" "" "0" "" "" "g.94005490A>C" "" "likely pathogenic (recessive)" ""
"0000771236" "0" "90" "1" "94471056" "94471056" "subst" "2.84398E-5" "01695" "ABCA4_000050" "g.94471056G>A" "" "{PMID:Carss 2017:28041643}" "" "ENST00000370225.3:c.6088C>T p.Arg2030Ter 0/1" "" "Unknown" "" "" "0" "" "" "g.94005500G>A" "" "pathogenic (recessive)" ""
"0000771237" "0" "90" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Carss 2017:28041643}" "" "ENST00000370225.3:c.6320G>A p.Arg2107His 0/1" "" "Unknown" "" "" "0" "" "" "g.94001068C>T" "" "pathogenic (recessive)" ""
"0000771238" "3" "90" "1" "94509001" "94509001" "subst" "0" "01695" "ABCA4_001405" "g.94509001A>C" "" "{PMID:Carss 2017:28041643}" "" "ENST00000370225.3:c.3081T>G p.Tyr1027Ter 1/1" "" "Unknown" "" "" "0" "" "" "g.94043445A>C" "" "pathogenic (recessive)" ""
"0000771239" "3" "50" "1" "94473263" "94473263" "subst" "0" "01695" "ABCA4_000097" "g.94473263T>C" "" "{PMID:Carss 2017:28041643}" "" "ENST00000370225.3:c.5932A>G p.Lys1978Glu 1/1" "" "Unknown" "" "" "0" "" "" "g.94007707T>C" "" "VUS" ""
"0000771240" "0" "70" "1" "94506923" "94506923" "subst" "2.43657E-5" "01695" "ABCA4_000012" "g.94506923C>T" "" "{PMID:Carss 2017:28041643}" "" "ENST00000370225.3:c.3364G>A p.Glu1122Lys 0/1" "" "Unknown" "" "" "0" "" "" "g.94041367C>T" "" "likely pathogenic (recessive)" ""
"0000771241" "3" "70" "1" "94564399" "94564399" "subst" "0" "01695" "ABCA4_001412" "g.94564399A>C" "" "{PMID:Carss 2017:28041643}" "" "ENST00000370225.3:c.719T>G p.Ile240Arg 1/1" "" "Unknown" "" "" "0" "" "" "g.94098843A>C" "" "likely pathogenic (recessive)" ""
"0000771242" "0" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "" "{PMID:Carss 2017:28041643}" "" "ENST00000370225.3:c.4469G>A p.Cys1490Tyr 0/1" "" "Unknown" "" "" "0" "" "" "g.94029515C>T" "" "likely pathogenic (recessive)" ""
"0000771243" "0" "50" "1" "94467548" "94467548" "subst" "0.00295661" "01695" "ABCA4_000788" "g.94467548C>G" "" "{PMID:Carss 2017:28041643}" "" "ENST00000370225.3:c.6148G>C p.Val2050Leu 0/1" "" "Unknown" "" "" "0" "" "" "g.94001992C>G" "" "VUS" ""
"0000771244" "3" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Carss 2017:28041643}" "" "ENST00000370225.3:c.5461-10T>C NA 1/1" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000771245" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Carss 2017:28041643}" "" "ENST00000370225.3:c.5461-10T>C NA 0/1" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000771246" "0" "90" "1" "94486791" "94486791" "subst" "0" "01695" "ABCA4_001253" "g.94486791C>T" "" "{PMID:Carss 2017:28041643}" "" "ENST00000370225.3:c.5018+5G>A NA 0/1" "" "Unknown" "" "" "0" "" "" "g.94021235C>T" "" "pathogenic (recessive)" ""
"0000771247" "0" "70" "1" "94495177" "94495177" "subst" "1.22342E-5" "01695" "ABCA4_000023" "g.94495177A>G" "" "{PMID:Carss 2017:28041643}" "" "ENST00000370225.3:c.4363T>C p.Cys1455Arg 0/1" "" "Unknown" "" "" "0" "" "" "g.94029621A>G" "" "likely pathogenic (recessive)" ""
"0000771248" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Carss 2017:28041643}" "" "ENST00000370225.3:c.5461-10T>C NA 0/1" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000771249" "3" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Carss 2017:28041643}" "" "ENST00000370225.3:c.5882G>A p.Gly1961Glu 1/1" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000771250" "0" "70" "1" "94485246" "94485246" "subst" "0" "01695" "ABCA4_000474" "g.94485246G>C" "" "{PMID:Carss 2017:28041643}" "" "ENST00000370225.3:c.5088C>G p.Ser1696Arg 0/1" "" "Unknown" "" "" "0" "" "" "g.94019690G>C" "" "likely pathogenic (recessive)" ""
"0000771251" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Carss 2017:28041643}" "" "ENST00000370225.3:c.3113C>T p.Ala1038Val 0/1" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000771252" "0" "90" "1" "94526270" "94526270" "dup" "0" "01695" "ABCA4_000764" "g.94526270dup" "" "{PMID:Carss 2017:28041643}" "" "ENST00000370225.3:c.1984dupG p.Ala662GlyfsTer104 0/1" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94060714dup" "" "pathogenic (recessive)" ""
"0000771253" "0" "90" "1" "94480244" "94480244" "subst" "4.06128E-6" "01695" "ABCA4_001399" "g.94480244C>T" "" "{PMID:Carss 2017:28041643}" "" "ENST00000370225.3:c.5315G>A p.Trp1772Ter 0/1" "" "Unknown" "" "" "0" "" "" "g.94014688C>T" "" "pathogenic (recessive)" ""
"0000771254" "0" "70" "1" "94487448" "94487448" "subst" "0" "01695" "ABCA4_001400" "g.94487448A>C" "" "{PMID:Carss 2017:28041643}" "" "ENST00000370225.3:c.4727T>G p.Leu1576Arg 0/1" "" "Unknown" "" "" "0" "" "" "g.94021892A>C" "" "likely pathogenic (recessive)" ""
"0000771255" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Carss 2017:28041643}" "" "ENST00000370225.3:c.5714+5G>A NA 0/1" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000771256" "3" "90" "1" "94508342" "94508342" "subst" "0" "01695" "ABCA4_000631" "g.94508342C>T" "" "{PMID:Carss 2017:28041643}" "" "ENST00000370225.3:c.3303G>A p.Trp1101Ter 1/1" "" "Unknown" "" "" "0" "" "" "g.94042786C>T" "" "pathogenic (recessive)" ""
"0000771257" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Carss 2017:28041643}" "" "ENST00000370225.3:c.5461-10T>C NA 0/1" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000771258" "3" "90" "1" "94463488" "94463488" "subst" "5.2803E-5" "01695" "ABCA4_000802" "g.94463488G>A" "" "{PMID:Carss 2017:28041643}" "" "ENST00000370225.3:c.6658C>T p.Gln2220Ter 1/1" "" "Unknown" "" "" "0" "" "" "g.93997932G>A" "" "pathogenic (recessive)" ""
"0000771259" "0" "70" "1" "94476939" "94476939" "subst" "2.03371E-5" "01695" "ABCA4_001398" "g.94476939C>T" "" "{PMID:Carss 2017:28041643}" "" "ENST00000370225.3:c.5463G>A c.5463G>A(p.%3D) 0/1" "" "Unknown" "" "" "0" "" "" "g.94011383C>T" "" "likely pathogenic (recessive)" ""
"0000771260" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Carss 2017:28041643}" "" "ENST00000370225.3:c.5461-10T>C NA 0/1" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000771261" "0" "70" "1" "94466422" "94466422" "subst" "2.43651E-5" "01695" "ABCA4_000817" "g.94466422C>T" "" "{PMID:Carss 2017:28041643}" "" "ENST00000370225.3:c.6449G>A p.Cys2150Tyr 0/1" "" "Unknown" "" "" "0" "" "" "g.94000866C>T" "" "likely pathogenic (recessive)" ""
"0000771262" "0" "50" "1" "94495021" "94495021" "subst" "0.000161713" "01695" "ABCA4_000538" "g.94495021C>T" "" "{PMID:Carss 2017:28041643}" "" "ENST00000370225.3:c.4519G>A p.Gly1507Arg 0/1" "" "Unknown" "" "" "0" "" "" "g.94029465C>T" "" "VUS" ""
"0000771263" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Carss 2017:28041643}" "" "ENST00000370225.3:c.5461-10T>C NA 0/1" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000771264" "0" "70" "1" "94484001" "94484001" "subst" "0" "01695" "ABCA4_000016" "g.94484001C>T" "" "{PMID:Carss 2017:28041643}" "" "ENST00000370225.3:c.5196+1137G>A NA 0/1" "" "Unknown" "" "" "0" "" "" "g.94018445C>T" "" "likely pathogenic (recessive)" ""
"0000771265" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Carss 2017:28041643}" "" "ENST00000370225.3:c.5461-10T>C NA 0/1" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000771266" "0" "50" "1" "94471046" "94471046" "subst" "0" "01695" "ABCA4_000794" "g.94471046A>G" "" "{PMID:Carss 2017:28041643}" "" "ENST00000370225.3:c.6098T>C p.Leu2033Pro 0/1" "" "Unknown" "" "" "0" "" "" "g.94005490A>G" "" "VUS" ""
"0000771267" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Carss 2017:28041643}" "" "ENST00000370225.3:c.5461-10T>C NA 0/1" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000771268" "0" "70" "1" "94484001" "94484001" "subst" "0" "01695" "ABCA4_000016" "g.94484001C>T" "" "{PMID:Carss 2017:28041643}" "" "ENST00000370225.3:c.5196+1137G>A NA 0/1" "" "Unknown" "" "" "0" "" "" "g.94018445C>T" "" "likely pathogenic (recessive)" ""
"0000771269" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Carss 2017:28041643}" "" "ENST00000370225.3:c.5882G>A p.Gly1961Glu 0/1" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000771270" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Carss 2017:28041643}" "" "ENST00000370225.3:c.5461-10T>C NA 0/1" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000771271" "0" "70" "1" "94509018" "94509018" "subst" "8.12869E-6" "01695" "ABCA4_000659" "g.94509018C>T" "" "{PMID:Carss 2017:28041643}" "" "ENST00000370225.3:c.3064G>A p.Glu1022Lys 0/1" "" "Unknown" "" "" "0" "" "" "g.94043462C>T" "" "likely pathogenic (recessive)" ""
"0000771272" "0" "70" "1" "94484001" "94484001" "subst" "0" "01695" "ABCA4_000016" "g.94484001C>T" "" "{PMID:Carss 2017:28041643}" "" "ENST00000370225.3:c.5196+1137G>A NA 0/1" "" "Unknown" "" "" "0" "" "" "g.94018445C>T" "" "likely pathogenic (recessive)" ""
"0000771273" "3" "70" "1" "94463399" "94463413" "del" "0" "01695" "ABCA4_000851" "g.94463399_94463413del" "" "{PMID:Carss 2017:28041643}" "" "ENST00000370225.3:c.6729+5_6729+19delGTTGGCCCTGGGGCA NA 1/1" "" "Unknown" "" "" "0" "" "" "g.93997843_93997857del" "" "likely pathogenic (recessive)" ""
"0000771274" "0" "90" "1" "94466426" "94466426" "subst" "1.62433E-5" "01695" "ABCA4_000124" "g.94466426G>A" "" "{PMID:Carss 2017:28041643}" "" "ENST00000370225.3:c.6445C>T p.Arg2149Ter 0/1" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94000870G>A" "" "pathogenic (recessive)" ""
"0000771275" "0" "90" "1" "94495009" "94495009" "dup" "0" "01695" "ABCA4_000087" "g.94495009dup" "" "{PMID:Carss 2017:28041643}" "" "ENST00000370225.3:c.4537dupC p.Gln1513ProfsTer42 0/1" "" "Unknown" "" "" "0" "" "" "g.94029453dup" "" "pathogenic (recessive)" ""
"0000771276" "0" "90" "1" "94485173" "94485174" "del" "0" "01695" "ABCA4_000468" "g.94485173_94485174del" "" "{PMID:Carss 2017:28041643}" "" "ENST00000370225.3:c.5161_5162delAC p.Thr1721HisfsTer65 0/1" "" "Unknown" "" "" "0" "" "" "g.94019617_94019618del" "" "pathogenic (recessive)" ""
"0000771277" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Carss 2017:28041643}" "" "ENST00000370225.3:c.4139C>T p.Pro1380Leu 0/1" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000771278" "0" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "" "{PMID:Carss 2017:28041643}" "" "ENST00000370225.3:c.4469G>A p.Cys1490Tyr 0/1" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94029515C>T" "" "likely pathogenic (recessive)" ""
"0000771279" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Carss 2017:28041643}" "" "ENST00000370225.3:c.5461-10T>C NA 0/1" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000771280" "0" "70" "1" "94466602" "94466602" "subst" "1.62472E-5" "01695" "ABCA4_000035" "g.94466602C>T" "" "{PMID:Carss 2017:28041643}" "" "ENST00000370225.3:c.6342G>A c.6342G>A(p.%3D) 0/1" "" "Unknown" "" "" "0" "" "" "g.94001046C>T" "" "likely pathogenic (recessive)" ""
"0000771281" "0" "90" "1" "94486794" "94486794" "subst" "0" "01695" "ABCA4_000478" "g.94486794A>G" "" "{PMID:Carss 2017:28041643}" "" "ENST00000370225.3:c.5018+2T>C NA 0/1" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94021238A>G" "" "pathogenic (recessive)" ""
"0000771282" "0" "50" "1" "94476886" "94476886" "subst" "4.06227E-6" "01695" "ABCA4_000433" "g.94476886A>G" "" "{PMID:Carss 2017:28041643}" "" "ENST00000370225.3:c.5516T>C p.Phe1839Ser 0/1" "" "Unknown" "" "" "0" "" "" "g.94011330A>G" "" "VUS" ""
"0000771283" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Carss 2017:28041643}" "" "ENST00000370225.3:c.5882G>A p.Gly1961Glu 0/1" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000771284" "0" "90" "1" "94466615" "94466615" "subst" "0" "01695" "ABCA4_000836" "g.94466615C>T" "" "{PMID:Carss 2017:28041643}" "" "ENST00000370225.3:c.6329G>A p.Trp2110Ter 0/1" "" "Unknown" "" "" "0" "" "" "g.94001059C>T" "" "pathogenic (recessive)" ""
"0000771285" "0" "70" "1" "94486895" "94486895" "subst" "3.24923E-5" "01695" "ABCA4_000484" "g.94486895C>T" "" "{PMID:Carss 2017:28041643}" "" "ENST00000370225.3:c.4919G>A p.Arg1640Gln 0/1" "" "Unknown" "" "" "0" "" "" "g.94021339C>T" "" "likely pathogenic (recessive)" ""
"0000771286" "0" "70" "1" "94495002" "94495002" "subst" "0" "01695" "ABCA4_000533" "g.94495002T>C" "" "{PMID:Carss 2017:28041643}" "" "ENST00000370225.3:c.4538A>G p.Gln1513Arg 0/1" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94029446T>C" "" "likely pathogenic (recessive)" ""
"0000771287" "0" "70" "1" "94512478" "94512478" "subst" "3.65871E-5" "01695" "ABCA4_000678" "g.94512478G>T" "" "{PMID:Carss 2017:28041643}" "" "ENST00000370225.3:c.2915C>A p.Thr972Asn 0/1" "" "Unknown" "" "" "0" "" "" "g.94046922G>T" "" "likely pathogenic (recessive)" ""
"0000771288" "0" "90" "1" "94510253" "94510253" "subst" "0.000247694" "01695" "ABCA4_000108" "g.94510253A>G" "" "{PMID:Carss 2017:28041643}" "" "ENST00000370225.3:c.2966T>C p.Val989Ala 0/1" "" "Unknown" "" "" "0" "" "" "g.94044697A>G" "" "pathogenic (recessive)" ""
"0000771289" "0" "70" "1" "94466422" "94466422" "subst" "2.43651E-5" "01695" "ABCA4_000817" "g.94466422C>T" "" "{PMID:Carss 2017:28041643}" "" "ENST00000370225.3:c.6449G>A p.Cys2150Tyr 0/1" "" "Unknown" "" "" "0" "" "" "g.94000866C>T" "" "likely pathogenic (recessive)" ""
"0000771290" "0" "90" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Carss 2017:28041643}" "" "ENST00000370225.3:c.6320G>A p.Arg2107His 0/1" "" "Unknown" "" "" "0" "" "" "g.94001068C>T" "" "pathogenic (recessive)" ""
"0000771291" "0" "70" "1" "94467467" "94467467" "subst" "4.06164E-6" "01695" "ABCA4_000780" "g.94467467G>A" "" "{PMID:Carss 2017:28041643}" "" "ENST00000370225.3:c.6229C>T p.Arg2077Trp 0/1" "" "Unknown" "" "" "0" "" "" "g.94001911G>A" "" "likely pathogenic (recessive)" ""
"0000771292" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Carss 2017:28041643}" "" "ENST00000370225.3:c.2588G>C p.Gly863Ala 0/1" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000771293" "3" "90" "1" "94543303" "94543303" "subst" "0" "01695" "ABCA4_001411" "g.94543303C>T" "" "{PMID:Carss 2017:28041643}" "" "ENST00000370225.3:c.1497G>A p.Trp499Ter 1/1" "" "Unknown" "" "" "0" "" "" "g.94077747C>T" "" "pathogenic (recessive)" ""
"0000771294" "3" "90" "1" "94463488" "94463488" "subst" "5.2803E-5" "01695" "ABCA4_000802" "g.94463488G>A" "" "{PMID:Carss 2017:28041643}" "" "ENST00000370225.3:c.6658C>T p.Gln2220Ter 1/1" "" "Unknown" "" "" "0" "" "" "g.93997932G>A" "" "pathogenic (recessive)" ""
"0000771295" "3" "90" "1" "94473278" "94473278" "del" "3.25908E-5" "01695" "ABCA4_000392" "g.94473278del" "" "{PMID:Carss 2017:28041643}" "" "ENST00000370225.3:c.5917delG p.Val1973Ter 1/1" "" "Unknown" "" "" "0" "" "" "g.94007722del" "" "pathogenic (recessive)" ""
"0000771296" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Carss 2017:28041643}" "" "ENST00000370225.3:c.2588G>C p.Gly863Ala 0/1" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000771297" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Bernardis 2016:28127548}" "" "c.5714+5G>A" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000771298" "0" "90" "1" "94526154" "94526154" "subst" "4.06441E-6" "01695" "ABCA4_000752" "g.94526154C>T" "" "{PMID:Bernardis 2016:28127548}" "" "c.2099G>A" "" "Unknown" "" "" "0" "" "" "g.94060598C>T" "" "pathogenic (recessive)" ""
"0000771299" "0" "90" "1" "94526154" "94526154" "subst" "4.06441E-6" "01695" "ABCA4_000752" "g.94526154C>T" "" "{PMID:Bernardis 2016:28127548}" "" "c.2099G>A" "" "Unknown" "" "" "0" "" "" "g.94060598C>T" "" "pathogenic (recessive)" ""
"0000771300" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Bernardis 2016:28127548}" "" "c.5882G>A" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000771301" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Bernardis 2016:28127548}" "" "c.5882G>A" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000771302" "0" "70" "1" "94520793" "94520793" "subst" "8.13292E-6" "01695" "ABCA4_000723" "g.94520793A>T" "" "{PMID:Bernardis 2016:28127548}" "" "c.2461T>A" "" "Unknown" "" "" "0" "" "" "g.94055237A>T" "" "likely pathogenic (recessive)" ""
"0000771303" "0" "90" "1" "94466426" "94466426" "subst" "1.62433E-5" "01695" "ABCA4_000124" "g.94466426G>A" "" "{PMID:Bernardis 2016:28127548}" "" "c.6445C>T" "" "Unknown" "" "" "0" "" "" "g.94000870G>A" "" "pathogenic (recessive)" ""
"0000771304" "0" "70" "1" "94512551" "94512551" "subst" "1.21863E-5" "01695" "ABCA4_001492" "g.94512551G>A" "" "{PMID:Bernardis 2016:28127548}" "" "c.2842C>T" "" "Unknown" "" "" "0" "" "" "g.94046995G>A" "" "likely pathogenic (recessive)" ""
"0000771305" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Bernardis 2016:28127548}" "" "c.5882G>A" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000771306" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Bernardis 2016:28127548}" "" "c.5882G>A" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000771307" "3" "90" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Bernardis 2016:28127548}" "" "c.2894A>G" "" "Unknown" "" "" "0" "" "" "g.94046943T>C" "" "pathogenic (recessive)" ""
"0000771308" "3" "70" "1" "94481322" "94481322" "subst" "0" "01695" "ABCA4_000129" "g.94481322G>T" "" "{PMID:Bernardis 2016:28127548}" "" "c.5285C>A" "" "Unknown" "" "" "0" "" "" "g.94015766G>T" "" "likely pathogenic (recessive)" ""
"0000771309" "0" "90" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Haer-Wigman 2017:28224992}" "" "c.634C>T p.(Arg212Cys)" "" "Unknown" "" "" "0" "" "" "g.94098928G>A" "" "pathogenic (recessive)" ""
"0000771310" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Haer-Wigman 2017:28224992}" "" "c.5461-10T>C r.(spl?)" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000771311" "0" "70" "1" "94528248" "94528248" "subst" "1.22148E-5" "01695" "ABCA4_000279" "g.94528248A>T" "" "{PMID:Haer-Wigman 2017:28224992}" "" "c.1822T>A p.(Phe608Ile)" "" "Unknown" "" "" "0" "" "" "g.94062692A>T" "" "likely pathogenic (recessive)" ""
"0000771312" "3" "70" "1" "94463399" "94463413" "del" "0" "01695" "ABCA4_000851" "g.94463399_94463413del" "" "{PMID:Haer-Wigman 2017:28224992}" "" "c.6729+5_6729+19del r.(spl?)" "" "Unknown" "" "" "0" "" "" "g.93997843_93997857del" "" "likely pathogenic (recessive)" ""
"0000771313" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Haer-Wigman 2017:28224992}" "" "c.5882G>A p.(Gly1961Glu)" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000771314" "0" "70" "1" "94476812" "94476812" "subst" "0" "01695" "ABCA4_000048" "g.94476812A>G" "" "{PMID:Haer-Wigman 2017:28224992}" "" "c.5584+6T>C r.(spl?)" "" "Unknown" "" "" "0" "" "" "g.94011256A>G" "" "likely pathogenic (recessive)" ""
"0000771315" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Haer-Wigman 2017:28224992}" "" "c.3113C>T p.(Ala1038Val)" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000771316" "0" "70" "1" "94528248" "94528248" "subst" "1.22148E-5" "01695" "ABCA4_000279" "g.94528248A>T" "" "{PMID:Haer-Wigman 2017:28224992}" "" "c.1822T>A p.(Phe608Ile)" "" "Unknown" "" "" "0" "" "" "g.94062692A>T" "" "likely pathogenic (recessive)" ""
"0000771317" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Haer-Wigman 2017:28224992}" "" "c.768G>T r.(spl?)" "" "Unknown" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000771318" "0" "70" "1" "94471061" "94471061" "subst" "0" "01695" "ABCA4_001247" "g.94471061G>A" "" "{PMID:Huang 2017:28512305}" "" "c.6083C>T,p.Thr2028Ile" "" "Unknown" "" "" "0" "" "" "g.94005505G>A" "" "likely pathogenic (recessive)" ""
"0000771319" "0" "70" "1" "94506923" "94506923" "subst" "2.43657E-5" "01695" "ABCA4_000012" "g.94506923C>T" "" "{PMID:Huang 2017:28512305}" "" "c.3364G>A,p.Glu1122Lys" "" "Unknown" "" "" "0" "" "" "g.94041367C>T" "" "likely pathogenic (recessive)" ""
"0000771320" "0" "70" "1" "94480241" "94480241" "subst" "7.71705E-5" "01695" "ABCA4_000446" "g.94480241G>A" "" "{PMID:Huang 2017:28512305}" "" "c.5318C>T,p.Ala1773Val" "" "Unknown" "" "" "0" "" "" "g.94014685G>A" "" "likely pathogenic (recessive)" ""
"0000771321" "3" "90" "1" "94473278" "94473278" "del" "3.25908E-5" "01695" "ABCA4_000392" "g.94473278del" "" "{PMID:Bryant 2017:29343940}" "" "c.5917del p.Val1973*" "" "Unknown" "" "" "0" "" "" "g.94007722del" "" "pathogenic (recessive)" ""
"0000771322" "0" "50" "1" "94471025" "94471025" "subst" "0.00031698" "01695" "ABCA4_000096" "g.94471025C>T" "" "{PMID:Bryant 2017:29343940}" "" "c.6119G.A p.Arg2040Gln" "" "Unknown" "" "" "0" "" "" "g.94005469C>T" "" "VUS" ""
"0000771323" "0" "70" "1" "94528679" "94528679" "subst" "2.84368E-5" "01695" "ABCA4_000292" "g.94528679C>G" "" "{PMID:Bryant 2017:29343940}" "" "c.1749G.C p.Lys583Asn" "" "Unknown" "" "" "0" "" "" "g.94063123C>G" "" "likely pathogenic (recessive)" ""
"0000771324" "0" "70" "1" "94495177" "94495177" "subst" "1.22342E-5" "01695" "ABCA4_000023" "g.94495177A>G" "" "{PMID:Bryant 2017:29343940}" "" "c.4363T.C p.Cys1455Arg" "" "Unknown" "" "" "0" "" "" "g.94029621A>G" "" "likely pathogenic (recessive)" ""
"0000771325" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Bryant 2017:29343940}" "" "c.2588G.C p.Gly863Ala" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000771326" "0" "90" "1" "94471056" "94471056" "subst" "2.84398E-5" "01695" "ABCA4_000050" "g.94471056G>A" "" "{PMID:Huang 2018:29641573}" "" "c.6088C>T (p.Arg2030*) [26]" "" "Unknown" "" "" "0" "" "" "g.94005500G>A" "" "pathogenic (recessive)" ""
"0000771327" "0" "70" "1" "94480241" "94480241" "subst" "7.71705E-5" "01695" "ABCA4_000446" "g.94480241G>A" "" "{PMID:Huang 2018:29641573}" "" "c.5318C>T (p.Ala1773Val) [27]" "" "Unknown" "" "" "0" "" "" "g.94014685G>A" "" "likely pathogenic (recessive)" ""
"0000771328" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Huang 2018:29641573}" "" "c.1804C>T (p.Arg602Trp) [20]" "" "Unknown" "" "" "0" "" "" "g.94062710G>A" "" "pathogenic (recessive)" ""
"0000771329" "0" "50" "1" "94466655" "94466655" "subst" "0" "01695" "ABCA4_000842" "g.94466655G>A" "" "{PMID:Huang 2018:29641573}" "" "c.6289C>T (p.Pro2097Ser)" "" "Unknown" "" "" "0" "" "" "g.94001099G>A" "" "VUS" ""
"0000771330" "0" "70" "1" "94471061" "94471061" "subst" "0" "01695" "ABCA4_001247" "g.94471061G>A" "" "{PMID:Huang 2018:29641573}" "" "c.6083C>T (p.Thr2028Ile)" "" "Unknown" "" "" "0" "" "" "g.94005505G>A" "" "likely pathogenic (recessive)" ""
"0000771331" "0" "70" "1" "94476901" "94476901" "subst" "6.50005E-5" "01695" "ABCA4_001486" "g.94476901A>G" "" "{PMID:Huang 2018:29641573}" "" "c.5501T>C (p.Ile1834Thr)" "" "Unknown" "" "" "0" "" "" "g.94011345A>G" "" "likely pathogenic (recessive)" ""
"0000771332" "3" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Hanany 2018:29706639}" "" "c.4034A>G (p.Asn1345Ser)" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000771333" "3" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Hanany 2018:29706639}" "" "c.4034A>G (p.Asn1345Ser)" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000771334" "0" "70" "1" "94463583" "94463583" "subst" "8.12183E-6" "01695" "ABCA4_000806" "g.94463583A>G" "" "{PMID:Hanany 2018:29706639}" "" "c.6563T>C p.(Phe2188Ser)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.93998027A>G" "" "likely pathogenic (recessive)" ""
"0000771335" "0" "90" "1" "94466456" "94466456" "subst" "8.1217E-6" "01695" "ABCA4_000181" "g.94466456G>A" "" "{PMID:Hanany 2018:29706639}" "" "c.6415C>T p.(Arg2139Trp)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94000900G>A" "" "pathogenic (recessive)" ""
"0000771336" "0" "70" "1" "94466558" "94466558" "subst" "0" "01695" "ABCA4_001011" "g.94466558C>T" "" "{PMID:Hanany 2018:29706639}" "" "c.6386G>A p.(Ser2129Asn)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94001002C>T" "" "likely pathogenic (recessive)" ""
"0000771337" "0" "70" "1" "94471055" "94471055" "subst" "0.00035346" "01695" "ABCA4_000029" "g.94471055C>T" "" "{PMID:Hanany 2018:29706639}" "" "c.6089G>A p.(Arg2030Gln)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94005499C>T" "" "likely pathogenic (recessive)" ""
"0000771338" "0" "90" "1" "94471067" "94471067" "del" "0" "01695" "ABCA4_001012" "g.94471067del" "" "{PMID:Hanany 2018:29706639}" "" "c.6077del p.(Leu2026Argfs*35)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94005511del" "" "pathogenic (recessive)" ""
"0000771339" "0" "70" "1" "94473266" "94473266" "subst" "8.14677E-6" "01695" "ABCA4_000389" "g.94473266C>T" "" "{PMID:Hanany 2018:29706639}" "" "c.5929G>A p.(Gly1977Ser)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94007710C>T" "" "likely pathogenic (recessive)" ""
"0000771340" "0" "90" "1" "94473278" "94473278" "del" "3.25908E-5" "01695" "ABCA4_000392" "g.94473278del" "" "{PMID:Hanany 2018:29706639}" "" "c.5917del p.(Val1973*)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94007722del" "" "pathogenic (recessive)" ""
"0000771341" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Hanany 2018:29706639}" "" "c.5882G>A p.(Gly1961Glu)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000771342" "0" "50" "1" "94474320" "94474320" "subst" "4.06065E-6" "01695" "ABCA4_000407" "g.94474320T>G" "" "{PMID:Hanany 2018:29706639}" "" "c.5822A>C p.(His1941Pro)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008764T>G" "" "VUS" ""
"0000771343" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Hanany 2018:29706639}" "" "c.5714+5G>A IVS40+5G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000771344" "0" "90" "1" "94480098" "94480098" "subst" "0" "01695" "ABCA4_000437" "g.94480098C>T" "" "{PMID:Hanany 2018:29706639}" "" "c.5460+1G>A IVS38+1G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94014542C>T" "" "pathogenic (recessive)" ""
"0000771345" "0" "70" "1" "94480179" "94480179" "subst" "0" "01695" "ABCA4_000991" "g.94480179C>G" "" "{PMID:Hanany 2018:29706639}" "" "c.5380G>C p.(Ala1794Pro)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94014623C>G" "" "likely pathogenic (recessive)" ""
"0000771346" "0" "70" "1" "94480208" "94480208" "subst" "8.12275E-6" "01695" "ABCA4_001013" "g.94480208A>C" "" "{PMID:Hanany 2018:29706639}" "" "c.5351T>G p.(Leu1784Arg)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94014652A>C" "" "likely pathogenic (recessive)" ""
"0000771347" "0" "90" "1" "94480224" "94480227" "del" "0" "01695" "ABCA4_001014" "g.94480224_94480227del" "" "{PMID:Hanany 2018:29706639}" "" "c.5333_5336del p.(Met1778Thrfs*51)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94014668_94014671del" "" "pathogenic (recessive)" ""
"0000771348" "0" "70" "1" "94480241" "94480241" "subst" "7.71705E-5" "01695" "ABCA4_000446" "g.94480241G>A" "" "{PMID:Hanany 2018:29706639}" "" "c.5318C>T p.(Ala1773Val)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94014685G>A" "" "likely pathogenic (recessive)" ""
"0000771349" "0" "90" "1" "94481294" "94481294" "subst" "0" "01695" "ABCA4_000110" "g.94481294C>T" "" "{PMID:Hanany 2018:29706639}" "" "c.5312+1G>A IVS37+1G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94015738C>T" "" "pathogenic (recessive)" ""
"0000771350" "0" "90" "1" "94485145" "94485145" "subst" "0" "01695" "ABCA4_001015" "g.94485145C>T" "" "{PMID:Hanany 2018:29706639}" "" "c.5189G>A p.(Trp1730*)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94019589C>T" "" "pathogenic (recessive)" ""
"0000771351" "0" "90" "1" "94485165" "94485165" "subst" "0" "01695" "ABCA4_001016" "g.94485165G>C" "" "{PMID:Hanany 2018:29706639}" "" "c.5169C>G p.(Tyr1723*)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94019609G>C" "" "pathogenic (recessive)" ""
"0000771352" "0" "90" "1" "94485275" "94485275" "del" "0" "01695" "ABCA4_001017" "g.94485275del" "" "{PMID:Hanany 2018:29706639}" "" "c.5059del p.(Ile1687Phefs*15)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94019719del" "" "pathogenic (recessive)" ""
"0000771353" "0" "50" "1" "94485278" "94485278" "subst" "0.000487317" "01695" "ABCA4_000101" "g.94485278C>T" "" "{PMID:Hanany 2018:29706639}" "" "c.5056G>A p.(Val1686Met)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94019722C>T" "" "VUS" ""
"0000771354" "0" "70" "1" "94486835" "94486835" "subst" "0" "01695" "ABCA4_001018" "g.94486835G>A" "" "{PMID:Hanany 2018:29706639}" "" "c.4979C>T p.(Pro1660Leu)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94021279G>A" "" "likely pathogenic (recessive)" ""
"0000771355" "0" "70" "1" "94486895" "94486895" "subst" "3.24923E-5" "01695" "ABCA4_000484" "g.94486895C>T" "" "{PMID:Hanany 2018:29706639}" "" "c.4919G>A p.(Arg1640Gln)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94021339C>T" "" "likely pathogenic (recessive)" ""
"0000771356" "0" "90" "1" "94486920" "94486920" "dup" "0" "01695" "ABCA4_001019" "g.94486920dup" "" "{PMID:Hanany 2018:29706639}" "" "c.4895dup p.(Asn1632Lysfs*14)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94021364dup" "" "pathogenic (recessive)" ""
"0000771357" "0" "70" "1" "94487251" "94487251" "subst" "2.85679E-5" "01695" "ABCA4_000490" "g.94487251G>T" "" "{PMID:Hanany 2018:29706639}" "" "c.4793C>A p.(Ala1598Asp)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94021695G>T" "" "likely pathogenic (recessive)" ""
"0000771358" "0" "70" "1" "94490550" "94490550" "subst" "0.000105588" "01695" "ABCA4_000523" "g.94490550C>T" "" "{PMID:Hanany 2018:29706639}" "" "c.4594G>A p.(Asp1532Asn)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94024994C>T" "" "likely pathogenic (recessive)" ""
"0000771359" "0" "70" "1" "94490567" "94490567" "subst" "5.68528E-5" "01695" "ABCA4_000026" "g.94490567G>A" "" "{PMID:Hanany 2018:29706639}" "" "c.4577C>T p.(Thr1526Met)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94025011G>A" "" "likely pathogenic (recessive)" ""
"0000771360" "0" "90" "1" "94495009" "94495009" "dup" "0" "01695" "ABCA4_000087" "g.94495009dup" "" "{PMID:Hanany 2018:29706639}" "" "c.4537dup p.(Gln1513Profs*42)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94029453dup" "" "pathogenic (recessive)" ""
"0000771361" "0" "70" "1" "94495083" "94495083" "subst" "0.000124542" "01695" "ABCA4_000542" "g.94495083G>A" "" "{PMID:Hanany 2018:29706639}" "" "c.4457C>T p.(Pro1486Leu)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94029527G>A" "" "likely pathogenic (recessive)" ""
"0000771362" "0" "50" "1" "94496039" "94496039" "subst" "0.00157963" "01695" "ABCA4_000552" "g.94496039C>T" "" "{PMID:Hanany 2018:29706639}" "" "c.4297G>A p.(Val1433Ile)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94030483C>T" "" "VUS" ""
"0000771363" "0" "90" "1" "94496083" "94496083" "subst" "0" "01695" "ABCA4_001340" "g.94496083C>T" "" "{PMID:Hanany 2018:29706639}" "" "c.4254-1G>A IVS28-1G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94030527C>T" "" "pathogenic (recessive)" ""
"0000771364" "0" "50" "1" "94496078" "94496100" "del" "0" "01695" "ABCA4_001833" "g.94496078_94496100del" "" "{PMID:Hanany 2018:29706639}" "" "c.4254-15del23bp IVS28-15del23bp" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94030522_94030544del" "" "VUS" ""
"0000771365" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Hanany 2018:29706639}" "" "c.4139C>T p.(Pro1380Leu)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000771366" "0" "70" "1" "94502906" "94502906" "subst" "0.000314086" "01695" "ABCA4_000605" "g.94502906C>T" "" "{PMID:Hanany 2018:29706639}" "" "c.3608G>A p.(Gly1203Glu)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94037350C>T" "" "likely pathogenic (recessive)" ""
"0000771367" "0" "50" "1" "94506838" "94506840" "del" "0" "01695" "ABCA4_000615" "g.94506838_94506840del" "" "{PMID:Hanany 2018:29706639}" "" "c.3449_3451del p.(Cys1150del)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94041282_94041284del" "" "VUS" ""
"0000771368" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Hanany 2018:29706639}" "" "c.3322C>T p.(Arg1108Cys)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000771369" "0" "90" "1" "94509026" "94509026" "subst" "4.06497E-5" "01695" "ABCA4_000660" "g.94509026G>A" "" "{PMID:Hanany 2018:29706639}" "" "c.3056C>T p.(Thr1019Met)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94043470G>A" "" "pathogenic (recessive)" ""
"0000771370" "0" "70" "1" "94510164" "94510164" "subst" "1.62441E-5" "01695" "ABCA4_000144" "g.94510164C>T" "" "{PMID:Hanany 2018:29706639}" "" "c.3050+5G>A IVS20+5G>A" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94044608C>T" "" "likely pathogenic (recessive)" ""
"0000771371" "0" "90" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Hanany 2018:29706639}" "" "c.2894A>G p.(Asn965Ser)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94046943T>C" "" "pathogenic (recessive)" ""
"0000771372" "0" "50" "1" "94512602" "94512602" "subst" "0.000369717" "01695" "ABCA4_000052" "g.94512602C>T" "" "{PMID:Hanany 2018:29706639}" "" "c.2791G>A p.(Val931Met)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94047046C>T" "" "VUS" ""
"0000771373" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Hanany 2018:29706639}" "" "c.2588G>C p.(Gly863Ala)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000771374" "0" "70" "1" "94522245" "94522245" "subst" "0" "01695" "ABCA4_000740" "g.94522245C>T" "" "{PMID:Hanany 2018:29706639}" "" "c.2294G>A p.(Ser765Asn)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94056689C>T" "" "likely pathogenic (recessive)" ""
"0000771375" "0" "50" "1" "94528142" "94528142" "subst" "0.00153303" "01695" "ABCA4_000125" "g.94528142A>C" "" "{PMID:Hanany 2018:29706639}" "" "c.1928T>G p.(Val643Gly)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94062586A>C" "" "VUS" ""
"0000771376" "0" "50" "1" "94528224" "94528224" "subst" "0" "01695" "ABCA4_000275" "g.94528224C>T" "" "{PMID:Hanany 2018:29706639}" "" "c.1846G>A p.(Glu616Lys)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94062668C>T" "" "VUS" ""
"0000771377" "0" "70" "1" "94528670" "94528670" "subst" "0" "01695" "ABCA4_001349" "g.94528670G>T" "" "{PMID:Hanany 2018:29706639}" "" "c.1758C>A p.(Asp586Glu)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94063114G>T" "" "likely pathogenic (recessive)" ""
"0000771378" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Hanany 2018:29706639}" "" "c.1622T>C p.(Leu541Pro)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000771379" "0" "50" "1" "94543389" "94543389" "subst" "0.000861235" "01695" "ABCA4_000312" "g.94543389C>T" "" "{PMID:Hanany 2018:29706639}" "" "c.1411G>A p.(Glu471Lys)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94077833C>T" "" "VUS" ""
"0000771380" "0" "90" "1" "94544947" "94544947" "del" "0" "01695" "ABCA4_001021" "g.94544947del" "" "{PMID:Hanany 2018:29706639}" "" "c.1172del p.(Lys391Serfs*4)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94079391del" "" "pathogenic (recessive)" ""
"0000771381" "0" "50" "1" "94544977" "94544977" "subst" "0.000544432" "01695" "ABCA4_000332" "g.94544977A>T" "" "{PMID:Hanany 2018:29706639}" "" "c.1140T>A p.(Asn380Lys)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94079421A>T" "" "VUS" ""
"0000771382" "0" "70" "1" "94546136" "94546136" "subst" "1.22031E-5" "01695" "ABCA4_000345" "g.94546136G>A" "" "{PMID:Hanany 2018:29706639}" "" "c.997C>T p.(Arg333Trp)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94080580G>A" "" "likely pathogenic (recessive)" ""
"0000771383" "0" "50" "1" "94548927" "94548927" "subst" "2.4398E-5" "01695" "ABCA4_002160" "g.94548927A>G" "" "{PMID:Hanany 2018:29706639}" "" "c.839T>C p.(Met280Thr)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94083371A>G" "" "VUS" ""
"0000771384" "0" "90" "1" "94548932" "94548932" "del" "4.06587E-6" "01695" "ABCA4_001022" "g.94548932del" "" "{PMID:Hanany 2018:29706639}" "" "c.834del p.(Asp279Ilefs*21)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94083376del" "" "pathogenic (recessive)" ""
"0000771385" "0" "90" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Hanany 2018:29706639}" "" "c.634C>T p.(Arg212Cys)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94098928G>A" "" "pathogenic (recessive)" ""
"0000771386" "0" "70" "1" "94568581" "94568581" "subst" "3.65458E-5" "01695" "ABCA4_000202" "g.94568581C>T" "" "{PMID:Hanany 2018:29706639}" "" "c.560G>A p.(Arg187His)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94103025C>T" "" "likely pathogenic (recessive)" ""
"0000771387" "0" "70" "1" "94568582" "94568582" "subst" "2.03034E-5" "01695" "ABCA4_000203" "g.94568582G>A" "" "{PMID:Hanany 2018:29706639}" "" "c.559C>T p.(Arg187Cys)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94103026G>A" "" "likely pathogenic (recessive)" ""
"0000771388" "0" "50" "1" "94568675" "94568675" "subst" "0.00146249" "01695" "ABCA4_000210" "g.94568675T>C" "" "{PMID:Hanany 2018:29706639}" "" "c.466A>G p.(Ile156Val)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94103119T>C" "" "VUS" ""
"0000771389" "0" "70" "1" "94568689" "94568689" "subst" "0" "01695" "ABCA4_001023" "g.94568689A>G" "" "{PMID:Hanany 2018:29706639}" "" "c.452T>C p.(Ile151Thr)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94103133A>G" "" "likely pathogenic (recessive)" ""
"0000771390" "0" "90" "1" "94586601" "94586601" "subst" "8.12156E-6" "01695" "ABCA4_000264" "g.94586601T>C" "" "{PMID:Hanany 2018:29706639}" "" "c.1A>G p.(Met1?)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94121045T>C" "" "pathogenic (recessive)" ""
"0000771391" "0" "90" "1" "94512507" "94512507" "del" "0" "01695" "ABCA4_000155" "g.94512507del" "" "{PMID:Martin-Merida 2018:29847639}" "" "m1: ABCA4 Ex.19 c.2888del p.(Gly963Alafs*14)" "" "Unknown" "" "" "0" "" "" "g.94046951del" "" "pathogenic (recessive)" ""
"0000771392" "20" "90" "1" "94546185" "94546185" "del" "0" "01695" "ABCA4_000350" "g.94546185del" "" "{PMID:Martin-Merida 2018:29847639}" "" "m3: ABCA4 Ex.8 c.950del p.(Gly317Alafs*57)" "" "Unknown" "" "" "0" "" "" "g.94080629del" "" "pathogenic (recessive)" ""
"0000771393" "3" "70" "1" "94476890" "94476890" "subst" "0" "01695" "ABCA4_001386" "g.94476890G>A" "" "{PMID:Wang 2018:30029497}" "" "NM_000350.2:c.5512C>T" "" "Unknown" "" "" "0" "" "" "g.94011334G>A" "" "likely pathogenic (recessive)" ""
"0000771394" "0" "70" "1" "94510272" "94510272" "subst" "4.06062E-6" "01695" "ABCA4_000070" "g.94510272T>C" "" "{PMID:Wang 2018:30029497}" "" "NM_000350.2:c.2947A>G" "" "Unknown" "" "" "0" "" "" "g.94044716T>C" "" "likely pathogenic (recessive)" ""
"0000771395" "0" "70" "1" "94487397" "94487397" "subst" "0" "01695" "ABCA4_000493" "g.94487397C>T" "" "{PMID:Wang 2018:30029497}" "" "NM_000350.2:c.4773+5G>A" "" "Unknown" "" "" "0" "" "" "g.94021841C>T" "" "likely pathogenic (recessive)" ""
"0000771396" "0" "70" "1" "94463583" "94463583" "subst" "8.12183E-6" "01695" "ABCA4_000806" "g.94463583A>G" "" "{PMID:Wang 2018:30029497}" "" "NM_000350.2:c.6563T>C" "" "Unknown" "" "" "0" "" "" "g.93998027A>G" "" "likely pathogenic (recessive)" ""
"0000771397" "0" "70" "1" "94471094" "94471094" "subst" "0" "01695" "ABCA4_001629" "g.94471094C>T" "" "{PMID:Wang 2018:30029497}" "" "NM_000350.2:c.6050G>A" "" "Unknown" "" "" "0" "" "" "g.94005538C>T" "" "likely pathogenic (recessive)" ""
"0000771398" "3" "70" "1" "94502904" "94502904" "subst" "2.03899E-5" "01695" "ABCA4_000604" "g.94502904C>T" "" "{PMID:Patel 2018:30054919}" "" "NM_000350.2:c.3610G>A; p.(Asp1204Asn)" "" "Unknown" "" "" "0" "" "" "g.94037348C>T" "" "likely pathogenic (recessive)" ""
"0000771399" "0" "70" "1" "94522245" "94522245" "subst" "0" "01695" "ABCA4_000740" "g.94522245C>T" "" "{PMID:Patel 2018:30054919}" "" "NM_000350.2:c.2294G>A; p.(Ser765Asn)2." "" "Unknown" "" "" "0" "" "" "g.94056689C>T" "" "likely pathogenic (recessive)" ""
"0000771400" "0" "70" "1" "94506805" "94506805" "subst" "2.03051E-5" "01695" "ABCA4_001294" "g.94506805C>T" "" "{PMID:Patel 2018:30054919}" "" "NM_000350.2:c.3482G>A; p.(Arg1161His)2." "" "Unknown" "" "" "0" "" "" "g.94041249C>T" "" "likely pathogenic (recessive)" ""
"0000771401" "3" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Ezquerra-Inchausti 2018:30337596}" "" "NM_000350 c.3322C>T p.Arg1108Cys" "" "Unknown" "yes" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000771402" "0" "70" "1" "94490567" "94490567" "subst" "5.68528E-5" "01695" "ABCA4_000026" "g.94490567G>A" "" "{PMID:Ezquerra-Inchausti 2018:30337596}" "" "NM_000350 c.4577C>T p.Thr1526Met" "" "Unknown" "" "" "0" "" "" "g.94025011G>A" "" "likely pathogenic (recessive)" ""
"0000771403" "21" "70" "1" "94528780" "94528780" "subst" "0" "01695" "ABCA4_002096" "g.94528780C>G" "" "{PMID:Patel 2019:30653986}" "" "c.1648G>C; c.4670A>G" "" "Unknown" "yes" "" "0" "" "" "g.94063224C>G" "" "likely pathogenic (recessive)" ""
"0000771404" "3" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Patel 2019:30653986}" "" "c.3113C>T" "" "Unknown" "yes" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000771405" "11" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Patel 2019:30653986}" "" "c.3322G>A" "" "Unknown" "yes" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000771406" "3" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Jespersgaard 2019:30718709}" "" "c.5461-10T>C p.(?)" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000771407" "0" "70" "1" "94487202" "94487202" "subst" "0" "01695" "ABCA4_001754" "g.94487202G>C" "" "{PMID:Jespersgaard 2019:30718709}" "" "c.4842C>G p.(Asn1614Lys)" "" "Unknown" "" "" "0" "" "" "g.94021646G>C" "" "likely pathogenic (recessive)" ""
"0000771408" "0" "70" "1" "94466393" "94466393" "subst" "0" "01695" "ABCA4_000816" "g.94466393T>C" "" "{PMID:Jespersgaard 2019:30718709}" "" "c.6478A>G p.(Lys2160Glu)" "" "Unknown" "" "" "0" "" "" "g.94000837T>C" "" "likely pathogenic (recessive)" ""
"0000771409" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Jespersgaard 2019:30718709}" "" "c.5461-10T>C p.(?)" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000771410" "0" "90" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Jespersgaard 2019:30718709}" "" "c.634C>T p.(Arg212Cys)" "" "Unknown" "" "" "0" "" "" "g.94098928G>A" "" "pathogenic (recessive)" ""
"0000771411" "0" "50" "1" "94476377" "94476377" "subst" "0.00160473" "01695" "ABCA4_000411" "g.94476377C>T" "" "{PMID:Jespersgaard 2019:30718709}" "" "c.5693G>A p.(Arg1898His)" "" "Unknown" "" "" "0" "" "" "g.94010821C>T" "" "VUS" ""
"0000771412" "0" "90" "1" "94520847" "94520847" "del" "0" "01695" "ABCA4_000728" "g.94520847del" "" "{PMID:Jespersgaard 2019:30718709}" "" "c.2408del p.(Gly803Aspfs*40)" "" "Unknown" "" "" "0" "" "" "g.94055291del" "" "pathogenic (recessive)" ""
"0000771413" "0" "70" "1" "94543271" "94543271" "subst" "0" "01695" "ABCA4_000308" "g.94543271A>C" "" "{PMID:Jespersgaard 2019:30718709}" "" "c.1529T>G p.(Leu510Arg)" "" "Unknown" "" "" "0" "" "" "g.94077715A>C" "" "likely pathogenic (recessive)" ""
"0000771414" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Jespersgaard 2019:30718709}" "" "c.2588G>C p.(Gly863Ala)" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000771415" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Jespersgaard 2019:30718709}" "" "c.1622T>C p.(Leu541Pro)" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000771416" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Jespersgaard 2019:30718709}" "" "c.5461-10T>C p.(?)" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000771417" "0" "90" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Jespersgaard 2019:30718709}" "" "c.634C>T p.(Arg212Cys)" "" "Unknown" "" "" "0" "" "" "g.94098928G>A" "" "pathogenic (recessive)" ""
"0000771418" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Jespersgaard 2019:30718709}" "" "c.1622T>C p.(Leu541Pro)" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000771419" "0" "90" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Jespersgaard 2019:30718709}" "" "c.2894A>G p.(Asn965Ser)" "" "Unknown" "" "" "0" "" "" "g.94046943T>C" "" "pathogenic (recessive)" ""
"0000771420" "0" "90" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Jespersgaard 2019:30718709}" "" "c.2894A>G p.(Asn965Ser)" "" "Unknown" "" "" "0" "" "" "g.94046943T>C" "" "pathogenic (recessive)" ""
"0000771421" "0" "90" "1" "94520847" "94520847" "del" "0" "01695" "ABCA4_000728" "g.94520847del" "" "{PMID:Jespersgaard 2019:30718709}" "" "c.2408del p.(Gly803Aspfs*40)" "" "Unknown" "" "" "0" "" "" "g.94055291del" "" "pathogenic (recessive)" ""
"0000771422" "0" "90" "1" "94514489" "94514489" "dup" "0" "01695" "ABCA4_001997" "g.94514489dup" "" "{PMID:Jespersgaard 2019:30718709}" "" "c.2680dup p.(Leu894Profs*26)" "" "Unknown" "" "" "0" "" "" "g.94048933dup" "" "pathogenic (recessive)" ""
"0000771423" "3" "50" "1" "94486888" "94486888" "subst" "3.65548E-5" "01695" "ABCA4_000137" "g.94486888G>C" "" "{PMID:Jespersgaard 2019:30718709}" "" "c.4926C>G p.(Ser1642Arg)" "" "Unknown" "" "" "0" "" "" "g.94021332G>C" "" "VUS" ""
"0000771424" "0" "50" "1" "94487490" "94487490" "subst" "0.00122268" "01695" "ABCA4_000506" "g.94487490A>G" "" "{PMID:Jespersgaard 2019:30718709}" "" "c.4685T>C p.(Ile1562Thr)" "" "Unknown" "" "" "0" "" "" "g.94021934A>G" "" "VUS" ""
"0000771425" "0" "90" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Jespersgaard 2019:30718709}" "" "c.2894A>G p.(Asn965Ser)" "" "Unknown" "" "" "0" "" "" "g.94046943T>C" "" "pathogenic (recessive)" ""
"0000771426" "3" "90" "1" "94517229" "94517229" "subst" "0" "01695" "ABCA4_002004" "g.94517229C>T" "" "{PMID:Jespersgaard 2019:30718709}" "" "c.2613G>A p.(Trp871*)" "" "Unknown" "" "" "0" "" "" "g.94051673C>T" "" "pathogenic (recessive)" ""
"0000771427" "3" "70" "1" "94466417" "94466417" "subst" "0" "01695" "ABCA4_001200" "g.94466417C>A" "" "{PMID:Jespersgaard 2019:30718709}" "" "c.6454G>T p.(Gly2152Cys)" "" "Unknown" "" "" "0" "" "" "g.94000861C>A" "" "likely pathogenic (recessive)" ""
"0000771428" "0" "90" "1" "94480243" "94480243" "subst" "4.06124E-6" "01695" "ABCA4_000448" "g.94480243C>T" "" "{PMID:Jespersgaard 2019:30718709}" "" "c.5316G>A p.(Trp1772*)" "" "Unknown" "" "" "0" "" "" "g.94014687C>T" "" "pathogenic (recessive)" ""
"0000771429" "0" "70" "1" "94476874" "94476879" "del" "0" "01695" "ABCA4_000431" "g.94476874_94476879del" "" "{PMID:Jespersgaard 2019:30718709}" "" "c.5528_5533del p.(Arg1843_Gly1844del)" "" "Unknown" "" "" "0" "" "" "g.94011318_94011323del" "" "likely pathogenic (recessive)" ""
"0000771430" "0" "70" "1" "94528709" "94528709" "subst" "0" "01695" "ABCA4_001049" "g.94528709C>T" "" "{PMID:Jespersgaard 2019:30718709}" "" "c.1719G>A p.(Met573Ile)" "" "Unknown" "" "" "0" "" "" "g.94063153C>T" "" "likely pathogenic (recessive)" ""
"0000771431" "0" "90" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Jespersgaard 2019:30718709}" "" "c.2894A>G p.(Asn965Ser)" "" "Unknown" "" "" "0" "" "" "g.94046943T>C" "" "pathogenic (recessive)" ""
"0000771432" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Jespersgaard 2019:30718709}" "" "c.5714+5G>A p.(?)" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000771433" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Jespersgaard 2019:30718709}" "" "c.1622T>C p.(Leu541Pro)" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000771434" "0" "70" "1" "94486896" "94486896" "subst" "3.65562E-5" "01695" "ABCA4_000085" "g.94486896G>A" "" "{PMID:Jespersgaard 2019:30718709}" "" "c.4918C>T p.(Arg1640Trp)" "" "Unknown" "" "" "0" "" "" "g.94021340G>A" "" "likely pathogenic (recessive)" ""
"0000771435" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Jespersgaard 2019:30718709}" "" "c.3113C>T p.(Ala1038Val)" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000771436" "0" "70" "1" "94471055" "94471055" "subst" "0.00035346" "01695" "ABCA4_000029" "g.94471055C>T" "" "{PMID:Jespersgaard 2019:30718709}" "" "c.6089G>A p.(Arg2030Gln)" "" "Unknown" "" "" "0" "" "" "g.94005499C>T" "" "likely pathogenic (recessive)" ""
"0000771437" "0" "90" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Jespersgaard 2019:30718709}" "" "c.2894A>G p.(Asn965Ser)" "" "Unknown" "" "" "0" "" "" "g.94046943T>C" "" "pathogenic (recessive)" ""
"0000771438" "0" "90" "1" "94466625" "94466625" "subst" "1.62559E-5" "01695" "ABCA4_000839" "g.94466625G>A" "" "{PMID:Jespersgaard 2019:30718709}" "" "c.6319C>T p.(Arg2107Cys)" "" "Unknown" "" "" "0" "" "" "g.94001069G>A" "" "pathogenic (recessive)" ""
"0000771439" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Jespersgaard 2019:30718709}" "" "c.5882G>A p.(Gly1961Glu)" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000771440" "0" "70" "1" "94486895" "94486895" "subst" "3.24923E-5" "01695" "ABCA4_000484" "g.94486895C>T" "" "{PMID:Jespersgaard 2019:30718709}" "" "c.4919G>A p.(Arg1640Gln)" "" "Unknown" "" "" "0" "" "" "g.94021339C>T" "" "likely pathogenic (recessive)" ""
"0000771441" "0" "70" "1" "94520717" "94520717" "subst" "0" "01695" "ABCA4_001367" "g.94520717T>A" "" "{PMID:Jespersgaard 2019:30718709}" "" "c.2537A>T p.(Asp846Val)" "" "Unknown" "" "" "0" "" "" "g.94055161T>A" "" "likely pathogenic (recessive)" ""
"0000771442" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Jespersgaard 2019:30718709}" "" "c.3113C>T p.(Ala1038Val)" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000771443" "0" "90" "1" "94528251" "94528251" "subst" "2.84824E-5" "01695" "ABCA4_000281" "g.94528251C>T" "" "{PMID:Jespersgaard 2019:30718709}" "" "c.1819G>A p.(Gly607Arg)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94062695C>T" "" "pathogenic (recessive)" ""
"0000771444" "0" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "" "{PMID:Jespersgaard 2019:30718709}" "" "c.4469G>A p.(Cys1490Tyr)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94029515C>T" "" "likely pathogenic (recessive)" ""
"0000771445" "0" "50" "1" "94476377" "94476377" "subst" "0.00160473" "01695" "ABCA4_000411" "g.94476377C>T" "" "{PMID:Jespersgaard 2019:30718709}" "" "c.5693G>A p.(Arg1898His)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94010821C>T" "" "VUS" ""
"0000771446" "0" "70" "1" "94467467" "94467467" "subst" "4.06164E-6" "01695" "ABCA4_000780" "g.94467467G>A" "" "{PMID:Jespersgaard 2019:30718709}" "" "c.6229C>T p.(Arg2077Trp)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94001911G>A" "" "likely pathogenic (recessive)" ""
"0000771447" "0" "90" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Jespersgaard 2019:30718709}" "" "c.2894A>G p.(Asn965Ser)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94046943T>C" "" "pathogenic (recessive)" ""
"0000771448" "0" "70" "1" "94486896" "94486896" "subst" "3.65562E-5" "01695" "ABCA4_000085" "g.94486896G>A" "" "{PMID:Jespersgaard 2019:30718709}" "" "c.4918C>T p.(Arg1640Trp)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94021340G>A" "" "likely pathogenic (recessive)" ""
"0000771449" "0" "90" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Jespersgaard 2019:30718709}" "" "c.2894A>G p.(Asn965Ser)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94046943T>C" "" "pathogenic (recessive)" ""
"0000771450" "0" "70" "1" "94512498" "94512498" "subst" "0" "01695" "ABCA4_000683" "g.94512498A>C" "" "{PMID:Jespersgaard 2019:30718709}" "" "c.2895T>G p.(Asn965Lys)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94046942A>C" "" "likely pathogenic (recessive)" ""
"0000771451" "0" "70" "1" "94471055" "94471055" "subst" "0.00035346" "01695" "ABCA4_000029" "g.94471055C>T" "" "{PMID:Jespersgaard 2019:30718709}" "" "c.6089G>A p.(Arg2030Gln)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94005499C>T" "" "likely pathogenic (recessive)" ""
"0000771452" "0" "70" "1" "94487202" "94487202" "subst" "0" "01695" "ABCA4_001754" "g.94487202G>C" "" "{PMID:Jespersgaard 2019:30718709}" "" "c.4842C>G p.(Asn1614Lys)" "" "Unknown" "" "" "0" "" "" "g.94021646G>C" "" "likely pathogenic (recessive)" ""
"0000771453" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Jespersgaard 2019:30718709}" "" "c.2588G>C p.(Gly863Ala)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000771454" "0" "50" "1" "94467548" "94467548" "subst" "0.00295661" "01695" "ABCA4_000788" "g.94467548C>G" "" "{PMID:Jespersgaard 2019:30718709}" "" "c.6148G>C p.(Val2050Leu)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94001992C>G" "" "VUS" ""
"0000771455" "0" "50" "1" "94476377" "94476377" "subst" "0.00160473" "01695" "ABCA4_000411" "g.94476377C>T" "" "{PMID:Jespersgaard 2019:30718709}" "" "c.5693G>A p.(Arg1898His)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94010821C>T" "" "VUS" ""
"0000771456" "0" "90" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Jespersgaard 2019:30718709}" "" "c.2894A>G p.(Asn965Ser)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94046943T>C" "" "pathogenic (recessive)" ""
"0000771457" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Jespersgaard 2019:30718709}" "" "c.5461-10T>C p.(?)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000771458" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Jespersgaard 2019:30718709}" "" "c.5461-10T>C p.(?)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000771459" "0" "90" "1" "94471026" "94471026" "subst" "1.21925E-5" "01695" "ABCA4_000791" "g.94471026G>A" "" "{PMID:Jespersgaard 2019:30718709}" "" "c.6118C>T p.(Arg2040*)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94005470G>A" "" "pathogenic (recessive)" ""
"0000771460" "0" "90" "1" "94471056" "94471056" "subst" "2.84398E-5" "01695" "ABCA4_000050" "g.94471056G>A" "" "{PMID:Jespersgaard 2019:30718709}" "" "c.6088C>T p.(Arg2030*)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94005500G>A" "" "pathogenic (recessive)" ""
"0000771461" "0" "90" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Jespersgaard 2019:30718709}" "" "c.2894A>G p.(Asn965Ser)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94046943T>C" "" "pathogenic (recessive)" ""
"0000771462" "0" "90" "1" "94528251" "94528251" "subst" "2.84824E-5" "01695" "ABCA4_000281" "g.94528251C>T" "" "{PMID:Jespersgaard 2019:30718709}" "" "c.1819G>A p.(Gly607Arg)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94062695C>T" "" "pathogenic (recessive)" ""
"0000771463" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Jespersgaard 2019:30718709}" "" "c.2588G>C p.(Gly863Ala)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000771464" "0" "70" "1" "94520801" "94520801" "subst" "0.000211489" "01695" "ABCA4_000724" "g.94520801C>T" "" "{PMID:Jespersgaard 2019:30718709}" "" "c.2453G>A p.(Gly818Glu)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94055245C>T" "" "likely pathogenic (recessive)" ""
"0000771465" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Jespersgaard 2019:30718709}" "" "c.5882G>A p.(Gly1961Glu)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000771466" "0" "90" "1" "94508435" "94508436" "dup" "0" "01695" "ABCA4_000998" "g.94508435_94508436dup" "" "{PMID:Jespersgaard 2019:30718709}" "" "c.3210_3211dup p.(Ser1071Cysfs*14)" "" "Unknown" "" "" "0" "" "" "g.94042879_94042880dup" "" "pathogenic (recessive)" ""
"0000771467" "0" "70" "1" "94577082" "94577082" "subst" "2.84315E-5" "01695" "ABCA4_000232" "g.94577082C>T" "" "{PMID:Jespersgaard 2019:30718709}" "" "c.214G>A p.(Gly72Arg)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94111526C>T" "" "likely pathogenic (recessive)" ""
"0000771468" "0" "50" "1" "94514466" "94514466" "subst" "0.00192081" "01695" "ABCA4_000008" "g.94514466T>C" "" "{PMID:Jespersgaard 2019:30718709}" "" "c.2701A>G p.(Thr901Ala)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94048910T>C" "" "VUS" ""
"0000771469" "0" "50" "1" "94487490" "94487490" "subst" "0.00122268" "01695" "ABCA4_000506" "g.94487490A>G" "" "{PMID:Jespersgaard 2019:30718709}" "" "c.4685T>C p.(Ile1562Thr)" "" "Unknown" "" "" "0" "" "" "g.94021934A>G" "" "VUS" ""
"0000771470" "0" "50" "1" "94487490" "94487490" "subst" "0.00122268" "01695" "ABCA4_000506" "g.94487490A>G" "" "{PMID:Jespersgaard 2019:30718709}" "" "c.4685T>C p.(Ile1562Thr)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94021934A>G" "" "VUS" ""
"0000771471" "0" "90" "1" "94496583" "94496583" "del" "0" "01695" "ABCA4_001840" "g.94496583del" "" "{PMID:Jespersgaard 2019:30718709}" "" "c.4222delT p.(Trp1408Glyfs*28)#" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94031027del" "" "pathogenic (recessive)" ""
"0000771472" "0" "90" "1" "94520847" "94520847" "del" "0" "01695" "ABCA4_000728" "g.94520847del" "" "{PMID:Jespersgaard 2019:30718709}" "" "c.2408del p.(Gly803Aspfs*40)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94055291del" "" "pathogenic (recessive)" ""
"0000771473" "0" "50" "1" "94496010" "94496010" "subst" "1.62434E-5" "01695" "ABCA4_000549" "g.94496010G>T" "" "{PMID:Jespersgaard 2019:30718709}" "" "c.4326C>A p.(Asn1442Lys)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94030454G>T" "" "VUS" ""
"0000771474" "0" "90" "1" "94546248" "94546248" "del" "2.03666E-5" "01695" "ABCA4_000352" "g.94546248del" "" "{PMID:Jespersgaard 2019:30718709}" "" "c.885del p.(Leu296Cysfs*4)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94080692del" "" "pathogenic (recessive)" ""
"0000771475" "0" "70" "1" "94487399" "94487399" "subst" "7.30959E-5" "01695" "ABCA4_000038" "g.94487399T>C" "" "{PMID:Jespersgaard 2019:30718709}" "" "c.4773+3A>G p.(?)" "" "Unknown" "" "" "0" "" "" "g.94021843T>C" "" "likely pathogenic (recessive)" ""
"0000771476" "0" "70" "1" "94506902" "94506902" "subst" "1.21834E-5" "01695" "ABCA4_000623" "g.94506902G>A" "" "{PMID:Wang 2019:31106028}" "" "c.3385G>A p.(Arg1129Cys)" "" "Unknown" "" "" "0" "" "" "g.94041346G>A" "" "likely pathogenic (recessive)" ""
"0000771477" "0" "70" "1" "94546150" "94546150" "subst" "4.06828E-6" "01695" "ABCA4_000346" "g.94546150T>A" "" "{PMID:Wang 2019:31106028}" "" "c.983T>A p.(Glu328Val)" "" "Unknown" "yes" "" "0" "" "" "g.94080594T>A" "" "likely pathogenic (recessive)" ""
"0000771478" "3" "90" "1" "94473263" "94473263" "del" "0" "01695" "ABCA4_000388" "g.94473263del" "" "{PMID:Wang 2019:31106028}" "" "c.5935del p.(Thr1979Glnfs*13)" "" "Unknown" "" "" "0" "" "" "g.94007707del" "" "pathogenic (recessive)" ""
"0000771479" "0" "90" "1" "94528311" "94528311" "subst" "0" "01695" "ABCA4_001138" "g.94528311T>C" "" "{PMID:Wang 2019:31106028}" "" "c.1761-2A>G p.?" "" "Unknown" "yes" "" "0" "" "" "g.94062755T>C" "" "pathogenic (recessive)" ""
"0000771480" "0" "90" "1" "94473263" "94473263" "del" "0" "01695" "ABCA4_000388" "g.94473263del" "" "{PMID:Wang 2019:31106028}" "" "c.5935del p.(Thr1979Glnfs*13)" "" "Unknown" "" "" "0" "" "" "g.94007707del" "" "pathogenic (recessive)" ""
"0000771481" "0" "50" "1" "94466627" "94466627" "subst" "0" "01695" "ABCA4_000840" "g.94466627C>G" "" "{PMID:Wang 2019:31106028}" "" "c.6317G>C p.(Arg2106Pro)" "" "Unknown" "" "" "0" "" "" "g.94001071C>G" "" "VUS" ""
"0000771482" "0" "70" "1" "94496588" "94496588" "subst" "0" "01695" "ABCA4_000567" "g.94496588T>C" "" "{PMID:Wang 2019:31106028}" "" "c.4217T>C p.(His1406Arg)" "" "Unknown" "" "" "0" "" "" "g.94031032T>C" "" "likely pathogenic (recessive)" ""
"0000771483" "0" "90" "1" "94544895" "94544895" "subst" "1.62455E-5" "01695" "ABCA4_000329" "g.94544895G>A" "" "{PMID:Wang 2019:31106028}" "" "c.1222G>A p.(Arg408*)" "" "Unknown" "yes" "" "0" "" "" "g.94079339G>A" "" "pathogenic (recessive)" ""
"0000771484" "0" "70" "1" "94577135" "94577135" "subst" "2.43718E-5" "01695" "ABCA4_000240" "g.94577135C>T" "" "{PMID:Wang 2019:31106028}" "" "c.161C>T p.(Cys54Tyr)" "" "Unknown" "" "" "0" "" "" "g.94111579C>T" "" "likely pathogenic (recessive)" ""
"0000771485" "0" "70" "1" "94496588" "94496588" "subst" "0" "01695" "ABCA4_000567" "g.94496588T>C" "" "{PMID:Wang 2019:31106028}" "" "c.4217T>C p.(His1406Arg)" "no segregation analysis done" "De novo" "" "" "0" "" "" "g.94031032T>C" "" "likely pathogenic (recessive)" ""
"0000771486" "0" "70" "1" "94480241" "94480241" "subst" "7.71705E-5" "01695" "ABCA4_000446" "g.94480241G>A" "" "{PMID:Wang 2019:31106028}" "" "c.5318G>A p.(Ala1773Val)" "" "Unknown" "yes" "" "0" "" "" "g.94014685G>A" "" "likely pathogenic (recessive)" ""
"0000771487" "0" "90" "1" "94485137" "94485137" "subst" "0" "01695" "ABCA4_000464" "g.94485137C>T" "" "{PMID:Wang 2019:31106028}" "" "c.5196+1C>T p.?" "" "Unknown" "yes" "" "0" "" "" "g.94019581C>T" "" "pathogenic (recessive)" ""
"0000771488" "0" "70" "1" "94508379" "94508379" "subst" "0" "01695" "ABCA4_000640" "g.94508379G>A" "" "{PMID:Wang 2019:31106028}" "" "c.3266G>A p.(Thr1089Ile)" "" "Unknown" "" "" "0" "" "" "g.94042823G>A" "" "likely pathogenic (recessive)" ""
"0000771489" "0" "90" "1" "94496015" "94496015" "del" "0" "01695" "ABCA4_001827" "g.94496015del" "" "{PMID:Wang 2019:31106028}" "" "c.4322del p.(Gly1441Alafs*5)" "" "Unknown" "" "" "0" "" "" "g.94030459del" "" "pathogenic (recessive)" ""
"0000771490" "0" "50" "1" "94474381" "94474381" "subst" "1.21849E-5" "01695" "ABCA4_000410" "g.94474381C>T" "" "{PMID:Wang 2019:31106028}" "" "c.5761C>T p.(Val1921Met)" "" "Unknown" "" "" "0" "" "" "g.94008825C>T" "" "VUS" ""
"0000771491" "0" "90" "1" "94508386" "94508386" "subst" "1.62443E-5" "01695" "ABCA4_000642" "g.94508386C>T" "" "{PMID:Wang 2019:31106028}" "" "c.3259C>T p.(Glu1087Lys)" "" "Unknown" "yes" "" "0" "" "" "g.94042830C>T" "" "pathogenic (recessive)" ""
"0000771492" "0" "90" "1" "94508386" "94508386" "subst" "1.62443E-5" "01695" "ABCA4_000642" "g.94508386C>T" "" "{PMID:Wang 2019:31106028}" "" "c.3259C>T p.(Glu1087Lys)" "" "Unknown" "yes" "" "0" "" "" "g.94042830C>T" "" "pathogenic (recessive)" ""
"0000771493" "0" "70" "1" "94473266" "94473266" "subst" "8.14677E-6" "01695" "ABCA4_000389" "g.94473266C>T" "" "{PMID:Wang 2019:31106028}" "" "c.5929G>A p.(Gly1977Ser)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94007710C>T" "" "likely pathogenic (recessive)" ""
"0000771494" "0" "70" "1" "94471058" "94471058" "subst" "0" "01695" "ABCA4_001625" "g.94471058C>A" "" "{PMID:Wang 2019:31106028}" "" "c.6086C>A p.(Gly2029Val)" "" "Unknown" "yes" "" "0" "" "" "g.94005502C>A" "" "likely pathogenic (recessive)" ""
"0000771495" "0" "90" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Wang 2019:31106028}" "" "c.2894T>C p.(Asn965Ser)" "" "Unknown" "yes" "" "0" "" "" "g.94046943T>C" "" "pathogenic (recessive)" ""
"0000771496" "0" "70" "1" "94463583" "94463583" "subst" "8.12183E-6" "01695" "ABCA4_000806" "g.94463583A>G" "" "{PMID:Wang 2019:31106028}" "" "c.6563A>G p.(Phe2188Ser)" "" "Unknown" "" "" "0" "" "" "g.93998027A>G" "" "likely pathogenic (recessive)" ""
"0000771497" "3" "70" "1" "94577109" "94577109" "subst" "0" "01695" "ABCA4_002229" "g.94577109A>G" "" "{PMID:Xu 2020:31630094}" "" "p.S63P" "" "Unknown" "yes" "" "0" "" "" "g.94111553A>G" "" "likely pathogenic (recessive)" ""
"0000771498" "0" "70" "1" "94467457" "94467457" "subst" "0" "01695" "ABCA4_001596" "g.94467457G>A" "" "{PMID:Xu 2020:31630094}" "" "p.S2080F" "" "Unknown" "yes" "" "0" "" "" "g.94001901G>A" "" "likely pathogenic (recessive)" ""
"0000771499" "3" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Ehrenberg 2019:31814694}" "" "ABCA4 (NM_000350.2; OMIM: 601691):c.G3482G>A; p.Arg1161His (hom)(CRD)" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000771500" "3" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Ehrenberg 2019:31814694}" "" "ABCA4 (NM_000350.2; OMIM: 601691):c.5882G>A; p.Gly1961Glu (hom)(RP)" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000771501" "0" "70" "1" "94476424" "94476424" "subst" "2.43694E-5" "01695" "ABCA4_000418" "g.94476424C>T" "" "{PMID:Chen 2020:31872526}" "" "NM_000350:exon40:c.5646G>A:p.M1882I" "" "Unknown" "" "" "0" "" "" "g.94010868C>T" "" "likely pathogenic (recessive)" ""
"0000771502" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Rodríguez-Muños 2020:32036094}" "" "c.3386G>T; p.(Arg1129Leu)" "" "Unknown" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000771503" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Rodríguez-Muños 2020:32036094}" "" "c.3386G>T; p.(Arg1129Leu)" "" "Unknown" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000771504" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Rodríguez-Muños 2020:32036094}" "" "c.3386G>T; p.(Arg1129Leu)" "" "Unknown" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000771505" "0" "70" "1" "94577112" "94577112" "subst" "0" "01695" "ABCA4_002231" "g.94577112G>C" "" "{PMID:Rodríguez-Muños 2020:32036094}" "" "c.184C>G; p.(Pro62Ala)" "" "Unknown" "" "" "0" "" "" "g.94111556G>C" "" "likely pathogenic (recessive)" ""
"0000771506" "0" "70" "1" "94495083" "94495083" "subst" "0.000124542" "01695" "ABCA4_000542" "g.94495083G>A" "" "{PMID:Rodríguez-Muños 2020:32036094}" "" "c.4457C>T; p.(Pro1486Leu)" "" "Unknown" "" "" "0" "" "" "g.94029527G>A" "" "likely pathogenic (recessive)" ""
"0000771507" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Rodríguez-Muños 2020:32036094}" "" "c.2588G>C; p.(Gly863Ala)" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000771508" "3" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Rodríguez-Muños 2020:32036094}" "" "c.3386G>T; p.(Arg1129Leu)" "" "Unknown" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000771509" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Rodríguez-Muños 2020:32036094}" "" "c.3386G>T; p.(Arg1129Leu); Deletion ex.16" "" "Unknown" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000771510" "3" "90" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Rodríguez-Muños 2020:32036094}" "" "c.634C>T; p.(Arg212Cys)" "" "Unknown" "" "" "0" "" "" "g.94098928G>A" "" "pathogenic (recessive)" ""
"0000771511" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Rodríguez-Muños 2020:32036094}" "" "c.3386G>T; p.(Arg1129Leu)" "" "Unknown" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000771512" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Rodríguez-Muños 2020:32036094}" "" "c.3386G>T; p.(Arg1129Leu)" "" "Unknown" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000771513" "0" "70" "1" "94510247" "94510247" "subst" "0" "01695" "ABCA4_000668" "g.94510247C>A" "" "{PMID:Rodríguez-Muños 2020:32036094}" "" "c.2972G>T; p.(Gly991Val)" "" "Unknown" "" "" "0" "" "" "g.94044691C>A" "" "likely pathogenic (recessive)" ""
"0000771514" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Rodríguez-Muños 2020:32036094}" "" "c.3386G>T; p.(Arg1129Leu)" "" "Unknown" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000771515" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Rodríguez-Muños 2020:32036094}" "" "c.5882G>A; p.(Gly1961Glu)" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000771516" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Rodríguez-Muños 2020:32036094}" "" "c.1622T>C; p.(Leu541Pro); c.3113C>T; p.(Ala1038Val)" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000771517" "0" "70" "1" "94577112" "94577112" "subst" "0" "01695" "ABCA4_002231" "g.94577112G>C" "" "{PMID:Rodríguez-Muños 2020:32036094}" "" "c.184C>G; p.(Pro62Ala)" "" "Unknown" "" "" "0" "" "" "g.94111556G>C" "" "likely pathogenic (recessive)" ""
"0000771518" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Rodríguez-Muños 2020:32036094}" "" "c.3386G>T; p.(Arg1129Leu)" "" "Unknown" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000771519" "0" "90" "1" "94526242" "94526243" "del" "0" "01695" "ABCA4_002060" "g.94526242_94526243del" "" "{PMID:Weisschuh 2020:32531858}" "" "c.2012_2013del/p.V671Efs*94" "" "Unknown" "yes" "" "0" "" "" "g.94060686_94060687del" "" "pathogenic (recessive)" ""
"0000771520" "0" "70" "1" "94528248" "94528248" "subst" "1.22148E-5" "01695" "ABCA4_000279" "g.94528248A>T" "" "{PMID:Weisschuh 2020:32531858}" "" "c.1822T>A/p.F608I" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94062692A>T" "" "likely pathogenic (recessive)" ""
"0000771521" "3" "70" "1" "94528248" "94528248" "subst" "1.22148E-5" "01695" "ABCA4_000279" "g.94528248A>T" "" "{PMID:Weisschuh 2020:32531858}" "" "c.1822T>A/p.F608I" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94062692A>T" "" "likely pathogenic (recessive)" ""
"0000771522" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Weisschuh 2020:32531858}" "" "c.768G>T/p.V256V" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000771523" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "c.5714+5G>A/p.?" "" "Unknown" "yes" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000771524" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Weisschuh 2020:32531858}" "" "c.768G>T/p.?" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000771525" "0" "90" "1" "94508356" "94508356" "subst" "0" "01695" "ABCA4_000635" "g.94508356T>A" "" "{PMID:Weisschuh 2020:32531858}" "" "c.3289A>T/p.R1097*" "" "Unknown" "yes" "" "0" "" "" "g.94042800T>A" "" "pathogenic (recessive)" ""
"0000771526" "0" "70" "1" "94577113" "94577113" "subst" "4.06141E-6" "01695" "ABCA4_002232" "g.94577113C>G" "" "{PMID:Weisschuh 2020:32531858}" "" "c.183G>C/p.M61I" "" "Unknown" "yes" "" "0" "" "" "g.94111557C>G" "" "likely pathogenic (recessive)" ""
"0000771527" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Weisschuh 2020:32531858}" "" "c.2588G>C/p.G863A" "" "Unknown" "yes" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000771528" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "c.5882G>A/p.G1961E" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000771529" "0" "90" "1" "94508435" "94508436" "dup" "0" "01695" "ABCA4_000998" "g.94508435_94508436dup" "" "{PMID:Weisschuh 2020:32531858}" "" "c.3210_3211dup/p.S1071Cfs*14" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94042879_94042880dup" "" "pathogenic (recessive)" ""
"0000771530" "0" "90" "1" "94466556" "94466556" "subst" "4.06164E-6" "01695" "ABCA4_000831" "g.94466556G>C" "" "{PMID:Weisschuh 2020:32531858}" "" "c.6386+2C>G/p.?" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94001000G>C" "" "pathogenic (recessive)" ""
"0000771531" "0" "70" "1" "94517233" "94517233" "subst" "4.06161E-6" "01695" "ABCA4_000706" "g.94517233G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "c.2609C>T/p.P870L" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94051677G>A" "" "likely pathogenic (recessive)" ""
"0000771532" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "c.4139C>T/p.P1380L" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000771533" "0" "90" "1" "94586557" "94586557" "subst" "4.06134E-6" "01695" "ABCA4_000259" "g.94586557C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "c.45G>A/p.W15*" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94121001C>T" "" "pathogenic (recessive)" ""
"0000771534" "0" "90" "1" "94508386" "94508386" "subst" "1.62443E-5" "01695" "ABCA4_000642" "g.94508386C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "c.3259G>A/p.E1087K" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94042830C>T" "" "pathogenic (recessive)" ""
"0000771535" "0" "90" "1" "94508384" "94508384" "subst" "0" "01695" "ABCA4_000641" "g.94508384T>G" "" "{PMID:Weisschuh 2020:32531858}" "" "c.3261A>C/p.E1087D" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94042828T>G" "" "pathogenic (recessive)" ""
"0000771536" "3" "90" "1" "94508386" "94508386" "subst" "1.62443E-5" "01695" "ABCA4_000642" "g.94508386C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "c.3259G>A/p.E1087K" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94042830C>T" "" "pathogenic (recessive)" ""
"0000771537" "0" "70" "1" "94466422" "94466422" "subst" "2.43651E-5" "01695" "ABCA4_000817" "g.94466422C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "c.6449G>A/p.C2150Y" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94000866C>T" "" "likely pathogenic (recessive)" ""
"0000771538" "0" "90" "1" "94496571" "94496571" "subst" "4.06174E-6" "01695" "ABCA4_000111" "g.94496571G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "c.4234C>T/p.Q1412*" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94031015G>A" "" "pathogenic (recessive)" ""
"0000771539" "3" "90" "1" "94488974" "94488974" "del" "0" "01695" "ABCA4_001779" "g.94488974del" "" "{PMID:Weisschuh 2020:32531858}" "" "c.4635del/p.K1547Rfs*38" "" "Unknown" "yes" "" "0" "" "" "g.94023418del" "" "pathogenic (recessive)" ""
"0000771540" "0" "70" "1" "94506880" "94506880" "subst" "0" "01695" "ABCA4_001902" "g.94506880C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "c.3407G>A/p.G1136E" "" "Unknown" "yes" "" "0" "" "" "g.94041324C>T" "" "likely pathogenic (recessive)" ""
"0000771541" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Weisschuh 2020:32531858}" "" "c.5461-10T>C/p.?" "" "Unknown" "yes" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000771542" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Weisschuh 2020:32531858}" "" "c.5461-10T>C/p.?" "" "Unknown" "yes" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000771543" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Weisschuh 2020:32531858}" "" "c.5461-10T>C/p.?" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000771544" "0" "70" "1" "94476842" "94476842" "subst" "2.43764E-5" "01695" "ABCA4_001682" "g.94476842C>A" "" "{PMID:Weisschuh 2020:32531858}" "" "c.5560G>T/p.V1854L" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94011286C>A" "" "likely pathogenic (recessive)" ""
"0000771545" "0" "70" "1" "94564372" "94564372" "subst" "0" "01695" "ABCA4_000366" "g.94564372T>C" "" "{PMID:Weisschuh 2020:32531858}" "" "c.746A>G/p.D249G" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94098816T>C" "" "likely pathogenic (recessive)" ""
"0000771546" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Weisschuh 2020:32531858}" "" "c.1622T>C/p.L541P" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000771547" "0" "70" "1" "94577135" "94577135" "subst" "2.43718E-5" "01695" "ABCA4_000240" "g.94577135C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "c.161G>A/p.C54Y" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94111579C>T" "" "likely pathogenic (recessive)" ""
"0000771548" "0" "90" "1" "94548906" "94548906" "subst" "0" "01695" "ABCA4_000358" "g.94548906A>T" "" "{PMID:Weisschuh 2020:32531858}" "" "c.858+2T>A/p.?" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94083350A>T" "" "pathogenic (recessive)" ""
"0000771549" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Weisschuh 2020:32531858}" "" "c.768G>T/p.?" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000771550" "3" "70" "1" "94495078" "94495078" "subst" "8.37044E-6" "01695" "ABCA4_000042" "g.94495078A>G" "" "{PMID:Weisschuh 2020:32531858}" "" "c.4462T>C/p.C1488R" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94029522A>G" "" "likely pathogenic (recessive)" ""
"0000771551" "3" "90" "1" "94473278" "94473278" "del" "3.25908E-5" "01695" "ABCA4_000392" "g.94473278del" "" "{PMID:Weisschuh 2020:32531858}" "" "c.5917del/p.V1973*" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94007722del" "" "pathogenic (recessive)" ""
"0000771552" "0" "90" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "c.634C>T/p.R212C" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94098928G>A" "" "pathogenic (recessive)" ""
"0000771553" "3" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Weisschuh 2020:32531858}" "" "[c.1622T>C/p.L541P; c.3113C>T/p.A1038V]" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000771554" "0" "70" "1" "94577082" "94577082" "subst" "2.84315E-5" "01695" "ABCA4_000232" "g.94577082C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "c.214G>A/p.G72R" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94111526C>T" "" "likely pathogenic (recessive)" ""
"0000771555" "0" "70" "1" "94502811" "94502811" "subst" "0" "01695" "ABCA4_001877" "g.94502811T>C" "" "{PMID:Weisschuh 2020:32531858}" "" "c.3703A>G/p.N1235D" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94037255T>C" "" "likely pathogenic (recessive)" ""
"0000771556" "0" "70" "1" "94485221" "94485221" "subst" "0" "01695" "ABCA4_000471" "g.94485221G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "c.5113C>T/p.R1705W" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94019665G>A" "" "likely pathogenic (recessive)" ""
"0000771557" "3" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Weisschuh 2020:32531858}" "" "[c.1622T>C/p.L541P; c.3113C>T/p.A1038V]" "" "Unknown" "yes" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000771558" "0" "90" "1" "94473278" "94473278" "del" "3.25908E-5" "01695" "ABCA4_000392" "g.94473278del" "" "{PMID:Weisschuh 2020:32531858}" "" "c.5917del/p.V1973*" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94007722del" "" "pathogenic (recessive)" ""
"0000771559" "0" "90" "1" "94526247" "94526248" "del" "0" "01695" "ABCA4_000761" "g.94526247_94526248del" "" "{PMID:Weisschuh 2020:32531858}" "" "c.2005_2006del/p.M669Dfs*96" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94060691_94060692del" "" "pathogenic (recessive)" ""
"0000771560" "0" "50" "1" "94520853" "94520853" "subst" "8.14783E-6" "01695" "ABCA4_000729" "g.94520853C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "c.2401G>A/p.A801T" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94055297C>T" "" "VUS" ""
"0000771561" "0" "90" "1" "94485137" "94485137" "subst" "0" "01695" "ABCA4_000464" "g.94485137C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "c.5196+1G>A/p.?" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94019581C>T" "" "pathogenic (recessive)" ""
"0000771562" "0" "90" "1" "94586557" "94586557" "subst" "4.06134E-6" "01695" "ABCA4_000259" "g.94586557C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "c.45G>A/p.W15*" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94121001C>T" "" "pathogenic (recessive)" ""
"0000771563" "0" "90" "1" "94574228" "94574229" "del" "0" "01695" "ABCA4_002217" "g.94574228_94574229del" "" "{PMID:Weisschuh 2020:32531858}" "" "c.346_347del/p.A116Tfs*44" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94108672_94108673del" "" "pathogenic (recessive)" ""
"0000771564" "0" "90" "1" "94510286" "94510286" "subst" "0" "01695" "ABCA4_000182" "g.94510286C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "c.2933G>A/p.G978D" "" "Unknown" "yes" "" "0" "" "" "g.94044730C>T" "" "pathogenic (recessive)" ""
"0000771565" "0" "90" "1" "94586557" "94586557" "subst" "4.06134E-6" "01695" "ABCA4_000259" "g.94586557C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "c.45G>A/p.W15*" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94121001C>T" "" "pathogenic (recessive)" ""
"0000771566" "3" "90" "1" "94508386" "94508386" "subst" "1.62443E-5" "01695" "ABCA4_000642" "g.94508386C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "c.3259G>A/p.E1087K" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94042830C>T" "" "pathogenic (recessive)" ""
"0000771567" "0" "90" "1" "94546098" "94546111" "del" "0" "01695" "ABCA4_000022" "g.94546098_94546111del" "" "{PMID:Weisschuh 2020:32531858}" "" "c.1025_1038del/p.D342Gfs*6" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94080542_94080555del" "" "pathogenic (recessive)" ""
"0000771568" "3" "90" "1" "94486794" "94486794" "subst" "0" "01695" "ABCA4_000478" "g.94486794A>G" "" "{PMID:Weisschuh 2020:32531858}" "" "c.5018+2T>C/p.?" "" "Unknown" "yes" "" "0" "" "" "g.94021238A>G" "" "pathogenic (recessive)" ""
"0000771569" "3" "70" "1" "94577082" "94577082" "subst" "2.84315E-5" "01695" "ABCA4_000232" "g.94577082C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "c.214G>A/p.G72R" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94111526C>T" "" "likely pathogenic (recessive)" ""
"0000771570" "3" "70" "1" "94528263" "94528263" "subst" "0" "01695" "ABCA4_001348" "g.94528263A>G" "" "{PMID:Weisschuh 2020:32531858}" "" "c.1807T>C/p.Y603H" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94062707A>G" "" "likely pathogenic (recessive)" ""
"0000771571" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "c.5714+5G>A/p.?" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000771572" "3" "90" "1" "94473278" "94473278" "del" "3.25908E-5" "01695" "ABCA4_000392" "g.94473278del" "" "{PMID:Weisschuh 2020:32531858}" "" "c.5917del/p.V1973*" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94007722del" "" "pathogenic (recessive)" ""
"0000771573" "0" "50" "1" "94480146" "94480146" "subst" "2.84273E-5" "01695" "ABCA4_000122" "g.94480146T>C" "" "{PMID:Weisschuh 2020:32531858}" "" "c.5413A>G/p.N1805D" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94014590T>C" "" "VUS" ""
"0000771574" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Weisschuh 2020:32531858}" "" "c.5461-10T>C/p.?" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000771575" "0" "70" "1" "94502873" "94502875" "del" "0" "01695" "ABCA4_001881" "g.94502873_94502875del" "" "{PMID:Weisschuh 2020:32531858}" "" "c.3642_3644del/p.H1215del" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94037317_94037319del" "" "likely pathogenic (recessive)" ""
"0000771576" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "c.5714+5G>A/p.?" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000771577" "0" "70" "1" "94467467" "94467467" "subst" "4.06164E-6" "01695" "ABCA4_000780" "g.94467467G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "c.6229C>T/p.R2077W" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94001911G>A" "" "likely pathogenic (recessive)" ""
"0000771578" "0" "90" "1" "94526265" "94526265" "subst" "0" "01695" "ABCA4_000143" "g.94526265C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "c.1988G>A/p.W663*" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94060709C>T" "" "pathogenic (recessive)" ""
"0000771579" "3" "70" "1" "94522239" "94522239" "subst" "2.03305E-5" "01695" "ABCA4_000736" "g.94522239A>T" "" "{PMID:Weisschuh 2020:32531858}" "" "c.2300T>A/p.V767D" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94056683A>T" "" "likely pathogenic (recessive)" ""
"0000771580" "3" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Weisschuh 2020:32531858}" "" "c.5461-10T>C/p.?" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000771581" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "c.5714+5G>A/p.?" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000771582" "3" "90" "1" "94473278" "94473278" "del" "3.25908E-5" "01695" "ABCA4_000392" "g.94473278del" "" "{PMID:Weisschuh 2020:32531858}" "" "c.5917del/p.V1973*" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94007722del" "" "pathogenic (recessive)" ""
"0000771583" "3" "70" "1" "94502813" "94502813" "subst" "4.06458E-6" "01695" "ABCA4_001878" "g.94502813G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "c.3701C>T/p.P1234L" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94037257G>A" "" "likely pathogenic (recessive)" ""
"0000771584" "0" "70" "1" "94520718" "94520718" "subst" "0" "01695" "ABCA4_000161" "g.94520718C>G" "" "{PMID:Weisschuh 2020:32531858}" "" "c.2536G>C/p.D846H" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94055162C>G" "" "likely pathogenic (recessive)" ""
"0000771585" "0" "90" "1" "94526212" "94526212" "subst" "1.22012E-5" "01695" "ABCA4_000075" "g.94526212G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "c.2041C>T/p.R681*" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94060656G>A" "" "pathogenic (recessive)" ""
"0000771586" "0" "70" "1" "94564500" "94564500" "subst" "0.00100414" "01695" "ABCA4_000069" "g.94564500G>C" "" "{PMID:Weisschuh 2020:32531858}" "" "c.618C>G/p.S206R" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94098944G>C" "" "likely pathogenic (recessive)" ""
"0000771587" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "c.5882G>A/p.G1961E" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000771588" "0" "90" "1" "94546167" "94546167" "del" "0" "01695" "ABCA4_000348" "g.94546167del" "" "{PMID:Weisschuh 2020:32531858}" "" "c.967del/p.L323Cfs*51" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94080611del" "" "pathogenic (recessive)" ""
"0000771589" "0" "90" "1" "94510253" "94510253" "subst" "0.000247694" "01695" "ABCA4_000108" "g.94510253A>G" "" "{PMID:Weisschuh 2020:32531858}" "" "c.2966T>C/p.V989A" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94044697A>G" "" "pathogenic (recessive)" ""
"0000771590" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "c.5882G>A/p.G1961E" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000771591" "0" "70" "1" "94528780" "94528780" "subst" "4.06171E-6" "01695" "ABCA4_000299" "g.94528780C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "c.1648G>A/p.G550R" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94063224C>T" "" "likely pathogenic (recessive)" ""
"0000771592" "0" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "c.4469G>A/p.C1490Y" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94029515C>T" "" "likely pathogenic (recessive)" ""
"0000771593" "0" "70" "1" "94522239" "94522239" "subst" "2.03305E-5" "01695" "ABCA4_000736" "g.94522239A>T" "" "{PMID:Weisschuh 2020:32531858}" "" "c.2300T>A/p.V767D" "" "Unknown" "yes" "" "0" "" "" "g.94056683A>T" "" "likely pathogenic (recessive)" ""
"0000771594" "0" "90" "1" "94488946" "94488947" "del" "0" "01695" "ABCA4_001774" "g.94488946_94488947del" "" "{PMID:Weisschuh 2020:32531858}" "" "c.4663_4664del/p.Q1555Efs*41" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94023390_94023391del" "" "pathogenic (recessive)" ""
"0000771595" "0" "70" "1" "94520675" "94520675" "subst" "0" "01695" "ABCA4_002013" "g.94520675A>G" "" "{PMID:Weisschuh 2020:32531858}" "" "c.2579T>C/p.V860A" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94055119A>G" "" "likely pathogenic (recessive)" ""
"0000771596" "0" "90" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "c.634C>T/p.R212C" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94098928G>A" "" "pathogenic (recessive)" ""
"0000771597" "0" "90" "1" "94508435" "94508436" "dup" "0" "01695" "ABCA4_000998" "g.94508435_94508436dup" "" "{PMID:Weisschuh 2020:32531858}" "" "c.3210_3211dup/p.S1071Cfs*14" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94042879_94042880dup" "" "pathogenic (recessive)" ""
"0000771598" "0" "90" "1" "94578583" "94578583" "del" "0" "01695" "ABCA4_000248" "g.94578583del" "" "{PMID:Weisschuh 2020:32531858}" "" "c.108del/p.L37Wfs*3" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94113027del" "" "pathogenic (recessive)" ""
"0000771599" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "c.5882G>A/p.G1961E" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000771600" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "c.5882G>A/p.G1961E" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000771601" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "c.5714+5G>A/p.?" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000771602" "0" "90" "1" "94466556" "94466556" "subst" "4.06164E-6" "01695" "ABCA4_000831" "g.94466556G>C" "" "{PMID:Weisschuh 2020:32531858}" "" "c.6386+2C>G/p.?" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94001000G>C" "" "pathogenic (recessive)" ""
"0000771603" "0" "70" "1" "94577102" "94577102" "subst" "4.06161E-6" "01695" "ABCA4_000033" "g.94577102C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "c.194G>A/p.G65E" "" "Unknown" "yes" "" "0" "" "" "g.94111546C>T" "" "likely pathogenic (recessive)" ""
"0000771604" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "c.5882G>A/p.G1961E" "" "Unknown" "yes" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000771605" "0" "90" "1" "94496571" "94496571" "subst" "4.06174E-6" "01695" "ABCA4_000111" "g.94496571G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "c.4234C>R/p.Q1412*" "" "Unknown" "yes" "" "0" "" "" "g.94031015G>A" "" "pathogenic (recessive)" ""
"0000771606" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "c.5882G>A/p.G1961E" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000771607" "0" "70" "1" "94512518" "94512518" "subst" "8.12585E-5" "01695" "ABCA4_001230" "g.94512518T>A" "" "{PMID:Weisschuh 2020:32531858}" "" "c.2875A>T/p.T959S" "" "Unknown" "yes" "" "0" "" "" "g.94046962T>A" "" "likely pathogenic (recessive)" ""
"0000771608" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "c.5882G>A/p.G1961E" "" "Unknown" "yes" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000771609" "0" "70" "1" "94577082" "94577082" "subst" "2.84315E-5" "01695" "ABCA4_000232" "g.94577082C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "c.214G>A/p.G72R" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94111526C>T" "" "likely pathogenic (recessive)" ""
"0000771610" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Weisschuh 2020:32531858}" "" "[c.1622T>C/p.L541P; c.3113C>T/p.A1038V]" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000771611" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "c.5882G>A/p.G1961E" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000771612" "3" "90" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "c.634C>T/p.R212C" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94098928G>A" "" "pathogenic (recessive)" ""
"0000771613" "0" "90" "1" "94484082" "94484082" "subst" "0" "01695" "ABCA4_000028" "g.94484082T>C" "" "{PMID:Weisschuh 2020:32531858}" "" "c.5196+1056A>G" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94018526T>C" "" "pathogenic (recessive)" ""
"0000771614" "0" "90" "1" "94487194" "94487194" "subst" "0" "01695" "ABCA4_000488" "g.94487194A>G" "" "{PMID:Weisschuh 2020:32531858}" "" "c.4848+2T>C/p.?" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94021638A>G" "" "pathogenic (recessive)" ""
"0000771615" "0" "90" "1" "94528132" "94528132" "subst" "4.06835E-6" "01695" "ABCA4_000773" "g.94528132C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "c.1937+1G>A/p.?" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94062576C>T" "" "pathogenic (recessive)" ""
"0000771616" "0" "90" "1" "94487195" "94487195" "subst" "0" "01695" "ABCA4_001454" "g.94487195C>A" "" "{PMID:Weisschuh 2020:32531858}" "" "c.4848+1G>T/p.?" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94021639C>A" "" "pathogenic (recessive)" ""
"0000771617" "0" "70" "1" "94578619" "94578619" "subst" "2.85088E-5" "01695" "ABCA4_000253" "g.94578619G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "c.70C>T/p.R24C" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94113063G>A" "" "likely pathogenic (recessive)" ""
"0000771618" "0" "90" "1" "94487194" "94487194" "subst" "0" "01695" "ABCA4_001751" "g.94487194A>T" "" "{PMID:Weisschuh 2020:32531858}" "" "c.4848+2T>A/p.?" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94021638A>T" "" "pathogenic (recessive)" ""
"0000771619" "0" "90" "1" "94466452" "94466452" "subst" "0" "01695" "ABCA4_000823" "g.94466452A>C" "" "{PMID:Weisschuh 2020:32531858}" "" "c.6419T>G/p.L2140R" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94000896A>C" "" "pathogenic (recessive)" ""
"0000771620" "0" "50" "1" "94526289" "94526289" "subst" "0.000417202" "01695" "ABCA4_000767" "g.94526289A>C" "" "{PMID:Weisschuh 2020:32531858}" "" "c.1964T>G/p.F655C" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94060733A>C" "" "VUS" ""
"0000771621" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Weisschuh 2020:32531858}" "" "c.5461-10T>C/p.?" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000771622" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Weisschuh 2020:32531858}" "" "c.5461-10T>C/p.?" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000771623" "0" "90" "1" "94466556" "94466556" "subst" "4.06164E-6" "01695" "ABCA4_000831" "g.94466556G>C" "" "{PMID:Weisschuh 2020:32531858}" "" "c.6386+2C>G/p.?" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94001000G>C" "" "pathogenic (recessive)" ""
"0000771624" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Weisschuh 2020:32531858}" "" "[c.1622T>C/p.L541P; c.3113C>T/p.A1038V]" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000771625" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Weisschuh 2020:32531858}" "" "c.2588G>C/p.G863A" "" "Unknown" "yes" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000771626" "0" "90" "1" "94564548" "94564548" "subst" "0" "01695" "ABCA4_000197" "g.94564548C>A" "" "{PMID:Weisschuh 2020:32531858}" "" "c.571-1G>T/p.?" "" "Unknown" "yes" "" "0" "" "" "g.94098992C>A" "" "pathogenic (recessive)" ""
"0000771627" "3" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "c.4139C>T/p.P1380L" "" "Unknown" "yes" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000771628" "0" "90" "1" "94526247" "94526248" "del" "0" "01695" "ABCA4_000761" "g.94526247_94526248del" "" "{PMID:Weisschuh 2020:32531858}" "" "c.2005_2006del/p.M669Dfs*96" "" "Unknown" "yes" "" "0" "" "" "g.94060691_94060692del" "" "pathogenic (recessive)" ""
"0000771629" "0" "90" "1" "94526247" "94526248" "del" "0" "01695" "ABCA4_000761" "g.94526247_94526248del" "" "{PMID:Weisschuh 2020:32531858}" "" "c.4848+1G>T/p.?" "" "Unknown" "yes" "" "0" "" "" "g.94060691_94060692del" "" "pathogenic (recessive)" ""
"0000771630" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "c.5882G>A/p.G1961E" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000771631" "0" "90" "1" "94473278" "94473278" "del" "3.25908E-5" "01695" "ABCA4_000392" "g.94473278del" "" "{PMID:Weisschuh 2020:32531858}" "" "c.5917del/p.V1973*" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94007722del" "" "pathogenic (recessive)" ""
"0000771632" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "c.3322C>T/p.R1108C" "" "Unknown" "yes" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000771633" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Weisschuh 2020:32531858}" "" "c.5461-10T>C/p.?" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000771634" "3" "70" "1" "94466417" "94466417" "subst" "0" "01695" "ABCA4_001200" "g.94466417C>A" "" "{PMID:Weisschuh 2020:32531858}" "" "c.6454G>T/p.G2152C" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94000861C>A" "" "likely pathogenic (recessive)" ""
"0000771635" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Weisschuh 2020:32531858}" "" "[c.5461-10T>C/p.?; c.5603A>T/p.N1868I]" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000771636" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "c.3113C>T/p.A1038V" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000771637" "0" "50" "1" "94463425" "94463425" "subst" "0.000109787" "01695" "ABCA4_000853" "g.94463425G>C" "" "{PMID:Weisschuh 2020:32531858}" "" "c.6721C>G/p.L2241V" "" "Unknown" "yes" "" "0" "" "" "g.93997869G>C" "" "VUS" ""
"0000771638" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Weisschuh 2020:32531858}" "" "[c.1622T>C/p.L541P; c.3113C>T/p.A1038V]" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000771639" "0" "70" "1" "94486895" "94486895" "subst" "3.24923E-5" "01695" "ABCA4_000484" "g.94486895C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "c.4919G>A/p.R1640Q" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94021339C>T" "" "likely pathogenic (recessive)" ""
"0000771640" "0" "50" "1" "94526289" "94526289" "subst" "0.000417202" "01695" "ABCA4_000767" "g.94526289A>C" "" "{PMID:Weisschuh 2020:32531858}" "" "c.1964T>G/p.F655C" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94060733A>C" "" "VUS" ""
"0000771641" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "c.5714+5G>A/p.?" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000771642" "0" "70" "1" "94577102" "94577102" "subst" "4.06161E-6" "01695" "ABCA4_000033" "g.94577102C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "c.194G>A/p.G65E" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94111546C>T" "" "likely pathogenic (recessive)" ""
"0000771643" "3" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "c.5882G>A/p.G1961E" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000771644" "0" "90" "1" "94512507" "94512507" "del" "0" "01695" "ABCA4_000155" "g.94512507del" "" "{PMID:Weisschuh 2020:32531858}" "" "c.2888del/p.G963Afs*14" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94046951del" "" "pathogenic (recessive)" ""
"0000771645" "0" "70" "1" "94577113" "94577113" "subst" "4.06141E-6" "01695" "ABCA4_002232" "g.94577113C>G" "" "{PMID:Weisschuh 2020:32531858}" "" "c.183G>C/p.M61I" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94111557C>G" "" "likely pathogenic (recessive)" ""
"0000771646" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Weisschuh 2020:32531858}" "" "c.2588G>C/p.G863A" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000771647" "0" "70" "1" "94546124" "94546124" "subst" "0" "01695" "ABCA4_000342" "g.94546124A>G" "" "{PMID:Weisschuh 2020:32531858}" "" "c.1009T>C/p.F337L" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94080568A>G" "" "likely pathogenic (recessive)" ""
"0000771648" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Weisschuh 2020:32531858}" "" "[c.1622T>C/p.L541P; c.3113C>T/p.A1038V]" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000771649" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Weisschuh 2020:32531858}" "" "[c.1622T>C/p.L541P; c.3113C>T/p.A1038V]" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000771650" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Weisschuh 2020:32531858}" "" "[c.1622T>C/p.L541P; c.3113C>T/p.A1038V]" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000771651" "0" "70" "1" "94520864" "94520864" "subst" "0" "01695" "ABCA4_000166" "g.94520864A>G" "" "{PMID:Weisschuh 2020:32531858}" "" "c.2390T>C/p.L797P" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94055308A>G" "" "likely pathogenic (recessive)" ""
"0000771652" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Weisschuh 2020:32531858}" "" "c.2588G>C/p.G863A" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000771653" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Weisschuh 2020:32531858}" "" "[c.1622T>C/p.L541P; c.3113C>T/p.A1038V]" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000771654" "0" "70" "1" "94522355" "94522355" "subst" "0" "01695" "ABCA4_002049" "g.94522355G>T" "" "{PMID:Weisschuh 2020:32531858}" "" "c.2184C>A/p.S728R" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94056799G>T" "" "likely pathogenic (recessive)" ""
"0000771655" "0" "70" "1" "94528248" "94528248" "subst" "1.22148E-5" "01695" "ABCA4_000279" "g.94528248A>T" "" "{PMID:Weisschuh 2020:32531858}" "" "c.1822T>A/p.F608I" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94062692A>T" "" "likely pathogenic (recessive)" ""
"0000771656" "0" "70" "1" "94528248" "94528248" "subst" "1.22148E-5" "01695" "ABCA4_000279" "g.94528248A>T" "" "{PMID:Weisschuh 2020:32531858}" "" "c.1822T>A/p.F608I" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94062692A>T" "" "likely pathogenic (recessive)" ""
"0000771657" "0" "90" "1" "94496083" "94496083" "subst" "0" "01695" "ABCA4_001835" "g.94496083C>G" "" "{PMID:Weisschuh 2020:32531858}" "" "c.4254-1G>C/p.?" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94030527C>G" "" "pathogenic (recessive)" ""
"0000771658" "0" "70" "1" "94577102" "94577102" "subst" "4.06161E-6" "01695" "ABCA4_000033" "g.94577102C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "c.194G>A/p.G65E" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94111546C>T" "" "likely pathogenic (recessive)" ""
"0000771659" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Weisschuh 2020:32531858}" "" "[c.1622T>C/p.L541P; c.3113C>T/p.A1038V]" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000771660" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "c.5714+5G>A/p.?" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000771661" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "c.3113C>T/p.A1038V" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000771662" "0" "90" "1" "94495983" "94495983" "subst" "8.12348E-6" "01695" "ABCA4_000547" "g.94495983C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "c.4352+1G>A/p.?" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94030427C>T" "" "pathogenic (recessive)" ""
"0000771663" "0" "90" "1" "94544877" "94544877" "subst" "4.06124E-6" "01695" "ABCA4_000326" "g.94544877C>G" "" "{PMID:Weisschuh 2020:32531858}" "" "c.1239+1G>C/p.?" "" "Unknown" "yes" "" "0" "" "" "g.94079321C>G" "" "pathogenic (recessive)" ""
"0000771664" "0" "90" "1" "94543348" "94543348" "del" "0" "01695" "ABCA4_001054" "g.94543348del" "" "{PMID:Weisschuh 2020:32531858}" "" "c.1454del/p.G485Afs*83" "" "Unknown" "yes" "" "0" "" "" "g.94077792del" "" "pathogenic (recessive)" ""
"0000771665" "0" "70" "1" "94506889" "94506889" "subst" "4.06091E-6" "01695" "ABCA4_000619" "g.94506889A>G" "" "{PMID:Weisschuh 2020:32531858}" "" "c.3398T>C/p.I1133T" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94041333A>G" "" "likely pathogenic (recessive)" ""
"0000771666" "0" "90" "1" "94474428" "94474428" "subst" "0" "01695" "ABCA4_001662" "g.94474428C>A" "" "{PMID:Weisschuh 2020:32531858}" "" "c.5715-1G>T/p.?" "" "Unknown" "yes" "" "0" "" "" "g.94008872C>A" "" "pathogenic (recessive)" ""
"0000771667" "3" "70" "1" "94471032" "94471032" "subst" "1.62553E-5" "01695" "ABCA4_000792" "g.94471032G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "c.6112C>T/p.R2038W" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94005476G>A" "" "likely pathogenic (recessive)" ""
"0000771668" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "c.5882G>A/p.G1961E" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000771669" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Weisschuh 2020:32531858}" "" "c.2588G>C/p.G863A" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000771670" "0" "70" "1" "94463499" "94463499" "subst" "1.21857E-5" "01695" "ABCA4_001568" "g.94463499G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "c.6647C>T/p.A2216V" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.93997943G>A" "" "likely pathogenic (recessive)" ""
"0000771671" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Weisschuh 2020:32531858}" "" "c.2588G>C/p.G863A" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000771672" "0" "70" "1" "94467467" "94467467" "subst" "4.06164E-6" "01695" "ABCA4_000780" "g.94467467G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "c.6229C>T/p.R2077W" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94001911G>A" "" "likely pathogenic (recessive)" ""
"0000771673" "0" "90" "1" "94578583" "94578583" "del" "0" "01695" "ABCA4_000248" "g.94578583del" "" "{PMID:Weisschuh 2020:32531858}" "" "c.108del/p.L37Wfs*3" "" "Unknown" "yes" "" "0" "" "" "g.94113027del" "" "pathogenic (recessive)" ""
"0000771674" "0" "90" "1" "94578583" "94578583" "del" "0" "01695" "ABCA4_000248" "g.94578583del" "" "{PMID:Weisschuh 2020:32531858}" "" "c.108del/p.L37Wfs*3" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94113027del" "" "pathogenic (recessive)" ""
"0000771675" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "c.5882G>A/p.G1961E" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000771676" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Weisschuh 2020:32531858}" "" "c.2588G>C/p.G863A" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000771677" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Weisschuh 2020:32531858}" "" "c.5461-10T>C/p.?" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000771678" "3" "70" "1" "94528263" "94528263" "subst" "0" "01695" "ABCA4_001348" "g.94528263A>G" "" "{PMID:Weisschuh 2020:32531858}" "" "c.1807T>C/p.Y603H" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94062707A>G" "" "likely pathogenic (recessive)" ""
"0000771679" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "c.5882G>A/p.G1961E" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000771680" "3" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "c.5714+5G>A/p.?" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000771681" "0" "90" "1" "94546167" "94546167" "del" "0" "01695" "ABCA4_000348" "g.94546167del" "" "{PMID:Weisschuh 2020:32531858}" "" "c.967del/p.L323Cfs*51" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94080611del" "" "pathogenic (recessive)" ""
"0000771682" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Weisschuh 2020:32531858}" "" "c.5461-10T>C/p.?" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000771683" "0" "50" "1" "94528142" "94528142" "subst" "0.00153303" "01695" "ABCA4_000125" "g.94528142A>C" "" "{PMID:Weisschuh 2020:32531858}" "" "c.1928T>G/p.V643G" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94062586A>C" "" "VUS" ""
"0000771684" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "c.5882G>A/p.G1961E" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000771685" "0" "90" "1" "94526265" "94526265" "subst" "0" "01695" "ABCA4_000143" "g.94526265C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "c.1988G>A/p.W663*" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94060709C>T" "" "pathogenic (recessive)" ""
"0000771686" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "c.5882G>A/p.G1961E" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000771687" "0" "90" "1" "94486794" "94486794" "subst" "0" "01695" "ABCA4_000478" "g.94486794A>G" "" "{PMID:Weisschuh 2020:32531858}" "" "c.5018+2T>C/p.?" "" "Unknown" "yes" "" "0" "" "" "g.94021238A>G" "" "pathogenic (recessive)" ""
"0000771688" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "c.5882G>A/p.G1961E" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000771689" "0" "90" "1" "94526212" "94526212" "subst" "1.22012E-5" "01695" "ABCA4_000075" "g.94526212G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "c.2041C>T/p.R681*" "" "Unknown" "yes" "" "0" "" "" "g.94060656G>A" "" "pathogenic (recessive)" ""
"0000771690" "0" "90" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "c.634C>T/p.R212C" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94098928G>A" "" "pathogenic (recessive)" ""
"0000771691" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "c.5882G>A/p.G1961E" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000771692" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "c.5882G>A/p.G1961E" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000771693" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Weisschuh 2020:32531858}" "" "c.2588G>C/p.G863A" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000771694" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "c.5714+5G>A/p.?" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000771695" "0" "90" "1" "94544209" "94544209" "subst" "0" "01695" "ABCA4_000113" "g.94544209C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "c.12983G>A/p.W431*" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94078653C>T" "" "pathogenic (recessive)" ""
"0000771696" "0" "90" "1" "94526212" "94526212" "subst" "1.22012E-5" "01695" "ABCA4_000075" "g.94526212G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "c.2041C>T/p.R681*" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94060656G>A" "" "pathogenic (recessive)" ""
"0000771697" "0" "70" "1" "94528248" "94528248" "subst" "1.22148E-5" "01695" "ABCA4_000279" "g.94528248A>T" "" "{PMID:Weisschuh 2020:32531858}" "" "c.1822T>A/p.F608I" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94062692A>T" "" "likely pathogenic (recessive)" ""
"0000771698" "0" "90" "1" "94508384" "94508384" "subst" "0" "01695" "ABCA4_000641" "g.94508384T>G" "" "{PMID:Weisschuh 2020:32531858}" "" "c.3261A>C/p.E1087D" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94042828T>G" "" "pathogenic (recessive)" ""
"0000771699" "0" "90" "1" "94508384" "94508384" "subst" "0" "01695" "ABCA4_000641" "g.94508384T>G" "" "{PMID:Weisschuh 2020:32531858}" "" "c.3261A>C/p.E1087D" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94042828T>G" "" "pathogenic (recessive)" ""
"0000771700" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Weisschuh 2020:32531858}" "" "c.2588G>C/p.G863A" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000771701" "0" "50" "1" "94480146" "94480146" "subst" "2.84273E-5" "01695" "ABCA4_000122" "g.94480146T>C" "" "{PMID:Weisschuh 2020:32531858}" "" "c.5413A>G/p.N1805D" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94014590T>C" "" "VUS" ""
"0000771702" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Weisschuh 2020:32531858}" "" "c.5461-10T>C/p.?" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000771703" "0" "90" "1" "94486794" "94486794" "subst" "0" "01695" "ABCA4_000479" "g.94486794A>T" "" "{PMID:Weisschuh 2020:32531858}" "" "c.5018+2T>A/p.?" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94021238A>T" "" "pathogenic (recessive)" ""
"0000771704" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Weisschuh 2020:32531858}" "" "[c.1622T>C/p.L541P; c.3113C>T/p.A1038V]" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000771705" "0" "90" "1" "94496571" "94496571" "subst" "4.06174E-6" "01695" "ABCA4_000111" "g.94496571G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "c.4234C>T/p.Q1412*" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94031015G>A" "" "pathogenic (recessive)" ""
"0000771706" "0" "70" "1" "94496558" "94496560" "del" "0" "01695" "ABCA4_000561" "g.94496558_94496560del" "" "{PMID:Weisschuh 2020:32531858}" "" "c.4249_4251del/p.F1417del" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94031002_94031004del" "" "likely pathogenic (recessive)" ""
"0000771707" "0" "90" "1" "94564539" "94564548" "dup" "0" "01695" "ABCA4_002194" "g.94564539_94564548dup" "" "{PMID:Weisschuh 2020:32531858}" "" "c.571_580dup/p.G194Vfs*89" "" "Unknown" "yes" "" "0" "" "" "g.94098983_94098992dup" "" "pathogenic (recessive)" ""
"0000771708" "0" "90" "1" "94487194" "94487194" "subst" "0" "01695" "ABCA4_000488" "g.94487194A>G" "" "{PMID:Weisschuh 2020:32531858}" "" "c.4848+2T>C/p.?" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94021638A>G" "" "pathogenic (recessive)" ""
"0000771709" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "c.5714+5G>A/p.?" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000771710" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "c.5882G>A/p.G1961E" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000771711" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Weisschuh 2020:32531858}" "" "c.5461-10T>C/p.?" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000771712" "0" "90" "1" "94509026" "94509026" "subst" "4.06497E-5" "01695" "ABCA4_000660" "g.94509026G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "c.3056C>T/p.T1019M" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94043470G>A" "" "pathogenic (recessive)" ""
"0000771713" "0" "90" "1" "94496571" "94496571" "subst" "4.06174E-6" "01695" "ABCA4_000111" "g.94496571G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "c.4234C>T/p.Q1412*" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94031015G>A" "" "pathogenic (recessive)" ""
"0000771714" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Weisschuh 2020:32531858}" "" "c.5461-10T>C/p.?" "" "Unknown" "yes" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000771715" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "c.5882G>A/p.G1961E" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000771716" "0" "90" "1" "94586557" "94586557" "subst" "4.06134E-6" "01695" "ABCA4_000259" "g.94586557C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "c.45G>A/p.W15*" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94121001C>T" "" "pathogenic (recessive)" ""
"0000771717" "0" "70" "1" "94471055" "94471055" "subst" "0.00035346" "01695" "ABCA4_000029" "g.94471055C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "c.6089G>A/p.R2030Q" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94005499C>T" "" "likely pathogenic (recessive)" ""
"0000771718" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "c.3322C>T/p.R1108C" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000771719" "0" "90" "1" "94528251" "94528251" "subst" "2.84824E-5" "01695" "ABCA4_000281" "g.94528251C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "c.1819G>A/p.G607R" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94062695C>T" "" "pathogenic (recessive)" ""
"0000771720" "0" "50" "1" "94471025" "94471025" "subst" "0.00031698" "01695" "ABCA4_000096" "g.94471025C>T" "" "{PMID:Gao 2019:31054281}" "" "c.6119G>A; p.Arg2040Gln" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94005469C>T" "" "VUS" ""
"0000771721" "0" "70" "1" "94485221" "94485221" "subst" "0" "01695" "ABCA4_000471" "g.94485221G>A" "" "{PMID:Gao 2019:31054281}" "" "c.5113C>T; p.Arg1705Trp" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94019665G>A" "" "likely pathogenic (recessive)" ""
"0000771722" "0" "90" "1" "94467500" "94467500" "del" "0" "01695" "ABCA4_000784" "g.94467500del" "" "{PMID:Gao 2019:31054281}" "" "c.6196delT; p.Cys2066Alafs49" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94001944del" "" "pathogenic (recessive)" ""
"0000771723" "0" "90" "1" "94544895" "94544895" "subst" "1.62455E-5" "01695" "ABCA4_000329" "g.94544895G>A" "" "{PMID:Gao 2019:31054281}" "" "c.1222C>T p.Arg408Ter" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94079339G>A" "" "pathogenic (recessive)" ""
"0000771724" "0" "70" "1" "94471032" "94471032" "subst" "1.62553E-5" "01695" "ABCA4_000792" "g.94471032G>A" "" "{PMID:Gao 2019:31054281}" "" "c.6112C>T p.Arg2038Trp" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94005476G>A" "" "likely pathogenic (recessive)" ""
"0000771725" "0" "90" "1" "94467500" "94467500" "del" "0" "01695" "ABCA4_000784" "g.94467500del" "" "{PMID:Gao 2019:31054281}" "" "c.6196delT p.Cys2066Alafs49" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94001944del" "" "pathogenic (recessive)" ""
"0000771726" "0" "90" "1" "94473263" "94473263" "del" "0" "01695" "ABCA4_000388" "g.94473263del" "" "{PMID:Gao 2019:31054281}" "" "c.5935delA p.Thr1979GlnfsX13" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94007707del" "" "pathogenic (recessive)" ""
"0000771727" "0" "50" "1" "94577132" "94577132" "subst" "0" "01695" "ABCA4_000239" "g.94577132T>C" "" "{PMID:Gao 2019:31054281}" "" "c.164A>G p.His55Arg" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94111576T>C" "" "VUS" ""
"0000771728" "0" "70" "1" "94506923" "94506923" "subst" "2.43657E-5" "01695" "ABCA4_000012" "g.94506923C>T" "" "{PMID:Gao 2019:31054281}" "" "c.3364G>A p.Glu1122Lys" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94041367C>T" "" "likely pathogenic (recessive)" ""
"0000771729" "0" "50" "1" "94578589" "94578594" "del" "0" "01695" "ABCA4_000249" "g.94578589_94578594del" "" "{PMID:Gao 2019:31054281}" "" "c.101_106delCTTTAT -" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94113033_94113038del" "" "VUS" ""
"0000771730" "0" "90" "1" "94546116" "94546116" "subst" "0" "01695" "ABCA4_001319" "g.94546116C>T" "" "{PMID:Gao 2019:31054281}" "" "c.1017G>A p.Trp339Ter" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94080560C>T" "" "pathogenic (recessive)" ""
"0000771731" "0" "90" "1" "94496083" "94496083" "subst" "0" "01695" "ABCA4_001836" "g.94496083C>A" "" "{PMID:Gao 2019:31054281}" "" "c.4254-1G>T -" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94030527C>A" "" "pathogenic (recessive)" ""
"0000771732" "0" "70" "1" "94480232" "94480232" "subst" "0" "01695" "ABCA4_000444" "g.94480232G>A" "" "{PMID:Gao 2019:31054281}" "" "c.5327C>T p.Pro1776Leu" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94014676G>A" "" "likely pathogenic (recessive)" ""
"0000771733" "0" "90" "1" "94486961" "94486961" "subst" "0" "01695" "ABCA4_001286" "g.94486961C>T" "" "{PMID:Gao 2019:31054281}" "" "c.4853G>A p.Trp1618Ter" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94021405C>T" "" "pathogenic (recessive)" ""
"0000771734" "0" "70" "1" "94505602" "94505602" "subst" "0" "01695" "ABCA4_001273" "g.94505602C>T" "" "{PMID:Gao 2019:31054281}" "" "c.3604G>A p.Asp1202Asn" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94040046C>T" "" "likely pathogenic (recessive)" ""
"0000771735" "0" "90" "1" "94467500" "94467500" "del" "0" "01695" "ABCA4_000784" "g.94467500del" "" "{PMID:Gao 2019:31054281}" "" "c.6196delT p.Cys2066AlafsX49" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94001944del" "" "pathogenic (recessive)" ""
"0000771736" "0" "70" "1" "94467502" "94467502" "subst" "0" "01695" "ABCA4_001604" "g.94467502T>A" "" "{PMID:Gao 2019:31054281}" "" "c.6194A>T p.Asp2065Val" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94001946T>A" "" "likely pathogenic (recessive)" ""
"0000771737" "0" "50" "1" "94528729" "94528729" "subst" "0.000255885" "01695" "ABCA4_000297" "g.94528729C>T" "" "{PMID:Gao 2019:31054281}" "" "c.1699G>A p.Val567Met" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94063173C>T" "" "VUS" ""
"0000771738" "0" "70" "1" "94546029" "94546029" "subst" "0" "01695" "ABCA4_001318" "g.94546029C>T" "" "{PMID:Gao 2019:31054281}" "" "c.1099+5G>A -" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94080473C>T" "" "likely pathogenic (recessive)" ""
"0000771739" "0" "90" "1" "94564402" "94564402" "subst" "4.06118E-6" "01695" "ABCA4_002178" "g.94564402C>T" "" "{PMID:Gao 2019:31054281}" "" "c.716G>A p.Trp239Ter" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94098846C>T" "" "pathogenic (recessive)" ""
"0000771740" "0" "50" "1" "94502737" "94502737" "subst" "0" "01695" "ABCA4_001292" "g.94502737G>C" "" "{PMID:Gao 2019:31054281}" "" "c.3777C>G p.Leu1259Leu" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94037181G>C" "" "VUS" ""
"0000771741" "0" "90" "1" "94522362" "94522362" "del" "0" "01695" "ABCA4_001307" "g.94522362del" "" "{PMID:Gao 2019:31054281}" "" "c.2177delA p.His726Leufs*61" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94056806del" "" "pathogenic (recessive)" ""
"0000771742" "0" "70" "1" "94543428" "94543428" "subst" "0" "01695" "ABCA4_001315" "g.94543428G>A" "" "{PMID:Gao 2019:31054281}" "" "c.1372C>T p.Pro458Ser" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94077872G>A" "" "likely pathogenic (recessive)" ""
"0000771743" "3" "90" "1" "94466628" "94466628" "subst" "0.000109748" "01695" "ABCA4_000094" "g.94466628G>A" "" "{PMID:Koyanagi 2019:31213501}" "" "c.6316C>T p.(Arg2106Cys)" "" "Unknown" "" "" "0" "" "" "g.94001072G>A" "" "pathogenic (recessive)" ""
"0000771744" "3" "70" "1" "94466639" "94466639" "subst" "0" "01695" "ABCA4_001096" "g.94466639T>G" "" "{PMID:Koyanagi 2019:31213501}" "" "c.6305A>C p.(Asp2102Ala)" "" "Unknown" "" "" "0" "" "" "g.94001083T>G" "" "likely pathogenic (recessive)" ""
"0000771745" "3" "90" "1" "94528666" "94528666" "subst" "0" "01695" "ABCA4_000289" "g.94528666A>C" "" "{PMID:Koyanagi 2019:31213501}" "" "c.1760+2T>G p.?" "" "Unknown" "" "" "0" "" "" "g.94063110A>C" "" "pathogenic (recessive)" ""
"0000771746" "3" "50" "1" "94544208" "94544208" "subst" "0.000158364" "01695" "ABCA4_000320" "g.94544208C>T" "" "{PMID:Koyanagi 2019:31213501}" "" "c.1294G>A p.(Glu432Lys)" "" "Unknown" "" "" "0" "" "" "g.94078652C>T" "" "VUS" ""
"0000771747" "3" "50" "1" "94574258" "94574258" "subst" "0.00115728" "01695" "ABCA4_001132" "g.94574258T>A" "" "{PMID:Koyanagi 2019:31213501}" "" "c.317A>T p.(Tyr106Phe)" "" "Unknown" "" "" "0" "" "" "g.94108702T>A" "" "VUS" ""
"0000771748" "3" "90" "1" "94528666" "94528666" "subst" "0" "01695" "ABCA4_000289" "g.94528666A>C" "" "{PMID:Koyanagi 2019:31213501}" "" "c.1760+2T>G p.?" "" "Unknown" "" "" "0" "" "" "g.94063110A>C" "" "pathogenic (recessive)" ""
"0000771749" "0" "70" "1" "94461709" "94461709" "subst" "4.06474E-6" "01695" "ABCA4_001094" "g.94461709G>A" "" "{PMID:Koyanagi 2019:31213501}" "" "c.6772C>T p.(Leu2258Phe)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.93996153G>A" "" "likely pathogenic (recessive)" ""
"0000771750" "0" "90" "1" "94463537" "94463537" "subst" "0" "01695" "ABCA4_000803" "g.94463537G>T" "" "{PMID:Koyanagi 2019:31213501}" "" "c.6609C>A p.(Tyr2203*)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.93997981G>T" "" "pathogenic (recessive)" ""
"0000771751" "0" "90" "1" "94466426" "94466426" "subst" "1.62433E-5" "01695" "ABCA4_000124" "g.94466426G>A" "" "{PMID:Koyanagi 2019:31213501}" "" "c.6445C>T p.(Arg2149*)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94000870G>A" "" "pathogenic (recessive)" ""
"0000771752" "0" "50" "1" "94466604" "94466604" "subst" "0.000166548" "01695" "ABCA4_001095" "g.94466604C>T" "" "{PMID:Koyanagi 2019:31213501}" "" "c.6340G>A p.(Val2114Met)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94001048C>T" "" "VUS" ""
"0000771753" "0" "70" "1" "94466639" "94466639" "subst" "0" "01695" "ABCA4_001096" "g.94466639T>G" "" "{PMID:Koyanagi 2019:31213501}" "" "c.6305A>C p.(Asp2102Ala)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94001083T>G" "" "likely pathogenic (recessive)" ""
"0000771754" "0" "70" "1" "94467439" "94467439" "subst" "0" "01695" "ABCA4_001097" "g.94467439A>C" "" "{PMID:Koyanagi 2019:31213501}" "" "c.6257T>G p.(Ile2086Ser)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94001883A>C" "" "likely pathogenic (recessive)" ""
"0000771755" "0" "70" "1" "94473266" "94473266" "subst" "8.14677E-6" "01695" "ABCA4_000389" "g.94473266C>T" "" "{PMID:Koyanagi 2019:31213501}" "" "c.5929G>A p.(Gly1977Ser)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94007710C>T" "" "likely pathogenic (recessive)" ""
"0000771756" "0" "50" "1" "94476417" "94476417" "subst" "0" "01695" "ABCA4_000416" "g.94476417C>T" "" "{PMID:Koyanagi 2019:31213501}" "" "c.5653G>A p.(Glu1885Lys)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94010861C>T" "" "VUS" ""
"0000771757" "0" "70" "1" "94476459" "94476459" "subst" "0" "01695" "ABCA4_001098" "g.94476459G>A" "" "{PMID:Koyanagi 2019:31213501}" "" "c.5611C>T p.(His1871Tyr)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94010903G>A" "" "likely pathogenic (recessive)" ""
"0000771758" "0" "70" "1" "94476827" "94476827" "subst" "0" "01695" "ABCA4_001100" "g.94476827C>T" "" "{PMID:Koyanagi 2019:31213501}" "" "c.5575G>A p.(Ala1859Thr)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94011271C>T" "" "likely pathogenic (recessive)" ""
"0000771759" "0" "50" "1" "94487398" "94487398" "subst" "0" "01695" "ABCA4_001102" "g.94487398A>C" "" "{PMID:Koyanagi 2019:31213501}" "" "c.4773+4T>G p.?" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94021842A>C" "" "VUS" ""
"0000771760" "0" "50" "1" "94487404" "94487404" "subst" "0.00244055" "01695" "ABCA4_000497" "g.94487404C>T" "" "{PMID:Koyanagi 2019:31213501}" "" "c.4771G>A p.(Gly1591Arg)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94021848C>T" "" "VUS" ""
"0000771761" "0" "70" "1" "94487475" "94487475" "subst" "4.06144E-6" "01695" "ABCA4_001103" "g.94487475G>A" "" "{PMID:Koyanagi 2019:31213501}" "" "c.4700C>T p.(Pro1567Leu)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94021919G>A" "" "likely pathogenic (recessive)" ""
"0000771762" "0" "70" "1" "94495078" "94495078" "subst" "8.37044E-6" "01695" "ABCA4_000042" "g.94495078A>G" "" "{PMID:Koyanagi 2019:31213501}" "" "c.4462T>C p.(Cys1488Arg)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94029522A>G" "" "likely pathogenic (recessive)" ""
"0000771763" "0" "50" "1" "94496008" "94496008" "subst" "2.03056E-5" "01695" "ABCA4_000148" "g.94496008C>T" "" "{PMID:Koyanagi 2019:31213501}" "" "c.4328G>A p.(Arg1443His)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94030452C>T" "" "VUS" ""
"0000771764" "0" "50" "1" "94496610" "94496610" "subst" "2.03128E-5" "01695" "ABCA4_000571" "g.94496610C>T" "" "{PMID:Koyanagi 2019:31213501}" "" "c.4195G>A p.(Glu1399Lys)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94031054C>T" "" "VUS" ""
"0000771765" "0" "70" "1" "94497383" "94497383" "subst" "0" "01695" "ABCA4_001106" "g.94497383A>G" "" "{PMID:Koyanagi 2019:31213501}" "" "c.4079T>C p.(Val1360Ala)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94031827A>G" "" "likely pathogenic (recessive)" ""
"0000771766" "0" "70" "1" "94502787" "94502787" "subst" "0" "01695" "ABCA4_001107" "g.94502787A>C" "" "{PMID:Koyanagi 2019:31213501}" "" "c.3727T>G p.(Tyr1243Asp)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94037231A>C" "" "likely pathogenic (recessive)" ""
"0000771767" "0" "70" "1" "94508358" "94508358" "subst" "4.06167E-6" "01695" "ABCA4_000636" "g.94508358G>A" "" "{PMID:Koyanagi 2019:31213501}" "" "c.3287C>T p.(Ser1096Leu)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94042802G>A" "" "likely pathogenic (recessive)" ""
"0000771768" "0" "70" "1" "94508918" "94508918" "subst" "0.000121946" "01695" "ABCA4_001109" "g.94508918C>T" "" "{PMID:Koyanagi 2019:31213501}" "" "c.3164G>A p.(Arg1055Gln)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94043362C>T" "" "likely pathogenic (recessive)" ""
"0000771769" "0" "50" "1" "94508963" "94508963" "subst" "8.12645E-6" "01695" "ABCA4_001110" "g.94508963A>G" "" "{PMID:Koyanagi 2019:31213501}" "" "c.3119T>C p.(Leu1040Pro)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94043407A>G" "" "VUS" ""
"0000771770" "0" "70" "1" "94508965" "94508965" "subst" "0" "01695" "ABCA4_001111" "g.94508965C>G" "" "{PMID:Koyanagi 2019:31213501}" "" "c.3117G>C p.(Gln1039His)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94043409C>G" "" "likely pathogenic (recessive)" ""
"0000771771" "0" "70" "1" "94510295" "94510295" "subst" "4.06065E-5" "01695" "ABCA4_001112" "g.94510295A>G" "" "{PMID:Koyanagi 2019:31213501}" "" "c.2924T>C p.(Ile975Thr)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94044739A>G" "" "likely pathogenic (recessive)" ""
"0000771772" "0" "90" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Koyanagi 2019:31213501}" "" "c.2894A>G p.(Asn965Ser)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94046943T>C" "" "pathogenic (recessive)" ""
"0000771773" "0" "70" "1" "94512522" "94512542" "del" "0" "01695" "ABCA4_001113" "g.94512522_94512542del" "" "{PMID:Koyanagi 2019:31213501}" "" "c.2857_2877delTTCTACGAGAACCAGATCACC p.(Phe953_Thr959del)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94046966_94046986del" "" "likely pathogenic (recessive)" ""
"0000771774" "0" "70" "1" "94512602" "94512602" "subst" "0" "01695" "ABCA4_001114" "g.94512602C>A" "" "{PMID:Koyanagi 2019:31213501}" "" "c.2791G>T p.(Val931Leu)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94047046C>A" "" "likely pathogenic (recessive)" ""
"0000771775" "0" "70" "1" "94520790" "94520790" "subst" "4.06646E-6" "01695" "ABCA4_001117" "g.94520790T>C" "" "{PMID:Koyanagi 2019:31213501}" "" "c.2464A>G p.(Ser822Gly)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94055234T>C" "" "likely pathogenic (recessive)" ""
"0000771776" "0" "70" "1" "94526284" "94526284" "subst" "0.000347234" "01695" "ABCA4_001118" "g.94526284T>C" "" "{PMID:Koyanagi 2019:31213501}" "" "c.1969A>G p.(Ile657Val)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94060728T>C" "" "likely pathogenic (recessive)" ""
"0000771777" "0" "70" "1" "94528208" "94528208" "subst" "0" "01695" "ABCA4_001119" "g.94528208C>G" "" "{PMID:Koyanagi 2019:31213501}" "" "c.1862G>C p.(Arg621Thr)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94062652C>G" "" "likely pathogenic (recessive)" ""
"0000771778" "0" "70" "1" "94528259" "94528259" "subst" "0" "01695" "ABCA4_001120" "g.94528259A>C" "" "{PMID:Koyanagi 2019:31213501}" "" "c.1811T>G p.(Ile604Ser)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94062703A>C" "" "likely pathogenic (recessive)" ""
"0000771779" "0" "70" "1" "94528813" "94528813" "subst" "1.62485E-5" "01695" "ABCA4_001121" "g.94528813G>C" "" "{PMID:Koyanagi 2019:31213501}" "" "c.1615C>G p.(Leu539Val)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94063257G>C" "" "likely pathogenic (recessive)" ""
"0000771780" "0" "50" "1" "94543268" "94543268" "subst" "0.000778106" "01695" "ABCA4_000306" "g.94543268C>T" "" "{PMID:Koyanagi 2019:31213501}" "" "c.1532G>A p.(Arg511His)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94077712C>T" "" "VUS" ""
"0000771781" "0" "70" "1" "94543269" "94543269" "subst" "0.000179087" "01695" "ABCA4_000307" "g.94543269G>A" "" "{PMID:Koyanagi 2019:31213501}" "" "c.1531C>T p.(Arg511Cys)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94077713G>A" "" "likely pathogenic (recessive)" ""
"0000771782" "0" "70" "1" "94544151" "94544151" "subst" "0" "01695" "ABCA4_001122" "g.94544151T>G" "" "{PMID:Koyanagi 2019:31213501}" "" "c.1351A>C p.(Ile451Leu)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94078595T>G" "" "likely pathogenic (recessive)" ""
"0000771783" "0" "70" "1" "94548975" "94548975" "subst" "0.000162661" "01695" "ABCA4_001123" "g.94548975C>T" "" "{PMID:Koyanagi 2019:31213501}" "" "c.791G>A p.(Arg264His)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94083419C>T" "" "likely pathogenic (recessive)" ""
"0000771784" "0" "70" "1" "94548976" "94548976" "subst" "8.13292E-6" "01695" "ABCA4_001124" "g.94548976G>A" "" "{PMID:Koyanagi 2019:31213501}" "" "c.790C>T p.(Arg264Cys)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94083420G>A" "" "likely pathogenic (recessive)" ""
"0000771785" "0" "50" "1" "94564354" "94564354" "subst" "4.06171E-5" "01695" "ABCA4_001125" "g.94564354C>T" "" "{PMID:Koyanagi 2019:31213501}" "" "c.764G>A p.(Arg255His)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94098798C>T" "" "VUS" ""
"0000771786" "0" "50" "1" "94564355" "94564355" "subst" "0.000105612" "01695" "ABCA4_000365" "g.94564355G>A" "" "{PMID:Koyanagi 2019:31213501}" "" "c.763C>T p.(Arg255Cys)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94098799G>A" "" "VUS" ""
"0000771787" "0" "70" "1" "94564442" "94564442" "subst" "4.06408E-5" "01695" "ABCA4_001126" "g.94564442G>A" "" "{PMID:Koyanagi 2019:31213501}" "" "c.676C>T p.(Arg226Cys)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94098886G>A" "" "likely pathogenic (recessive)" ""
"0000771788" "0" "90" "1" "94568569" "94568569" "subst" "0" "01695" "ABCA4_001129" "g.94568569A>C" "" "{PMID:Koyanagi 2019:31213501}" "" "c.570+2T>G p.?" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94103013A>C" "" "pathogenic (recessive)" ""
"0000771789" "0" "50" "1" "94568702" "94568705" "del" "0" "01695" "ABCA4_002207" "g.94568702_94568705del" "" "{PMID:Koyanagi 2019:31213501}" "" "c.443-5_443-2delTGTA p.?" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94103146_94103149del" "" "VUS" ""
"0000771790" "0" "70" "1" "94574234" "94574234" "subst" "2.03031E-5" "01695" "ABCA4_001131" "g.94574234A>G" "" "{PMID:Koyanagi 2019:31213501}" "" "c.341T>C p.(Met114Thr)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94108678A>G" "" "likely pathogenic (recessive)" ""
"0000771791" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Koyanagi 2019:31213501}" "" "c.5882G>A p.(Gly1961Glu)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000771792" "0" "70" "1" "94486934" "94486934" "subst" "0" "01695" "ABCA4_001101" "g.94486934A>G" "" "{PMID:Koyanagi 2019:31213501}" "" "c.4880T>C p.(Leu1627Pro)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94021378A>G" "" "likely pathogenic (recessive)" ""
"0000771793" "0" "50" "1" "94495021" "94495021" "subst" "0.000161713" "01695" "ABCA4_000538" "g.94495021C>T" "" "{PMID:Koyanagi 2019:31213501}" "" "c.4519G>A p.(Gly1507Arg)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94029465C>T" "" "VUS" ""
"0000771794" "0" "50" "1" "94495114" "94495114" "subst" "0" "01695" "ABCA4_001105" "g.94495114T>C" "" "{PMID:Koyanagi 2019:31213501}" "" "c.4426A>G p.(Lys1476Glu)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94029558T>C" "" "VUS" ""
"0000771795" "0" "50" "1" "94502889" "94502889" "subst" "4.0706E-6" "01695" "ABCA4_001108" "g.94502889T>G" "" "{PMID:Koyanagi 2019:31213501}" "" "c.3625A>C p.(Met1209Leu)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94037333T>G" "" "VUS" ""
"0000771796" "0" "10" "1" "94512565" "94512565" "subst" "0.030364" "01695" "ABCA4_000002" "g.94512565C>T" "" "{PMID:Koyanagi 2019:31213501}" "" "c.2828G>A p.(Arg943Gln)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94047009C>T" "" "benign" ""
"0000771797" "0" "50" "1" "94512634" "94512634" "subst" "4.87928E-5" "01695" "ABCA4_001115" "g.94512634C>T" "" "{PMID:Koyanagi 2019:31213501}" "" "c.2759G>A p.(Arg920His)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94047078C>T" "" "VUS" ""
"0000771798" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Koyanagi 2019:31213501}" "" "c.5882G>A p.(Gly1961Glu)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000771799" "0" "70" "1" "94486934" "94486934" "subst" "0" "01695" "ABCA4_001101" "g.94486934A>G" "" "{PMID:Koyanagi 2019:31213501}" "" "c.4880T>C p.(Leu1627Pro)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94021378A>G" "" "likely pathogenic (recessive)" ""
"0000771800" "0" "50" "1" "94495021" "94495021" "subst" "0.000161713" "01695" "ABCA4_000538" "g.94495021C>T" "" "{PMID:Koyanagi 2019:31213501}" "" "c.4519G>A p.(Gly1507Arg)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94029465C>T" "" "VUS" ""
"0000771801" "0" "50" "1" "94495114" "94495114" "subst" "0" "01695" "ABCA4_001105" "g.94495114T>C" "" "{PMID:Koyanagi 2019:31213501}" "" "c.4426A>G p.(Lys1476Glu)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94029558T>C" "" "VUS" ""
"0000771802" "0" "50" "1" "94502889" "94502889" "subst" "4.0706E-6" "01695" "ABCA4_001108" "g.94502889T>G" "" "{PMID:Koyanagi 2019:31213501}" "" "c.3625A>C p.(Met1209Leu)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94037333T>G" "" "VUS" ""
"0000771803" "0" "10" "1" "94512565" "94512565" "subst" "0.030364" "01695" "ABCA4_000002" "g.94512565C>T" "" "{PMID:Koyanagi 2019:31213501}" "" "c.2828G>A p.(Arg943Gln)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94047009C>T" "" "benign" ""
"0000771804" "0" "50" "1" "94512634" "94512634" "subst" "4.87928E-5" "01695" "ABCA4_001115" "g.94512634C>T" "" "{PMID:Koyanagi 2019:31213501}" "" "c.2759G>A p.(Arg920His)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94047078C>T" "" "VUS" ""
"0000771805" "0" "50" "1" "94496039" "94496039" "subst" "0.00157963" "01695" "ABCA4_000552" "g.94496039C>T" "" "{PMID:Koyanagi 2019:31213501}" "" "c.4297G>A p.(Val1433Ile)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94030483C>T" "" "VUS" ""
"0000771806" "0" "70" "1" "94564445" "94564445" "subst" "0.000203219" "01695" "ABCA4_001127" "g.94564445C>T" "" "{PMID:Koyanagi 2019:31213501}" "" "c.673G>A p.(Val225Met)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94098889C>T" "" "likely pathogenic (recessive)" ""
"0000771807" "0" "70" "1" "94564543" "94564543" "subst" "0.000211952" "01695" "ABCA4_000945" "g.94564543G>A" "" "{PMID:Koyanagi 2019:31213501}" "" "c.575C>T p.(Ala192Val)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94098987G>A" "" "likely pathogenic (recessive)" ""
"0000771808" "0" "50" "1" "94496039" "94496039" "subst" "0.00157963" "01695" "ABCA4_000552" "g.94496039C>T" "" "{PMID:Koyanagi 2019:31213501}" "" "c.4297G>A p.(Val1433Ile)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94030483C>T" "" "VUS" ""
"0000771809" "0" "70" "1" "94564445" "94564445" "subst" "0.000203219" "01695" "ABCA4_001127" "g.94564445C>T" "" "{PMID:Koyanagi 2019:31213501}" "" "c.673G>A p.(Val225Met)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94098889C>T" "" "likely pathogenic (recessive)" ""
"0000771810" "0" "70" "1" "94564543" "94564543" "subst" "0.000211952" "01695" "ABCA4_000945" "g.94564543G>A" "" "{PMID:Koyanagi 2019:31213501}" "" "c.575C>T p.(Ala192Val)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94098987G>A" "" "likely pathogenic (recessive)" ""
"0000771811" "0" "50" "1" "94496039" "94496039" "subst" "0.00157963" "01695" "ABCA4_000552" "g.94496039C>T" "" "{PMID:Koyanagi 2019:31213501}" "" "c.4297G>A p.(Val1433Ile)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94030483C>T" "" "VUS" ""
"0000771812" "0" "70" "1" "94564445" "94564445" "subst" "0.000203219" "01695" "ABCA4_001127" "g.94564445C>T" "" "{PMID:Koyanagi 2019:31213501}" "" "c.673G>A p.(Val225Met)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94098889C>T" "" "likely pathogenic (recessive)" ""
"0000771813" "0" "70" "1" "94564543" "94564543" "subst" "0.000211952" "01695" "ABCA4_000945" "g.94564543G>A" "" "{PMID:Koyanagi 2019:31213501}" "" "c.575C>T p.(Ala192Val)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94098987G>A" "" "likely pathogenic (recessive)" ""
"0000771814" "0" "50" "1" "94564552" "94564552" "subst" "9.10873E-5" "01695" "ABCA4_001128" "g.94564552A>C" "" "{PMID:Koyanagi 2019:31213501}" "" "c.571-5T>G p.?" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94098996A>C" "" "VUS" ""
"0000771815" "0" "50" "1" "94564552" "94564552" "subst" "9.10873E-5" "01695" "ABCA4_001128" "g.94564552A>C" "" "{PMID:Koyanagi 2019:31213501}" "" "c.571-5T>G p.?" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94098996A>C" "" "VUS" ""
"0000771816" "0" "50" "1" "94564552" "94564552" "subst" "9.10873E-5" "01695" "ABCA4_001128" "g.94564552A>C" "" "{PMID:Koyanagi 2019:31213501}" "" "c.571-5T>G p.?" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94098996A>C" "" "VUS" ""
"0000771817" "0" "50" "1" "94564552" "94564552" "subst" "9.10873E-5" "01695" "ABCA4_001128" "g.94564552A>C" "" "{PMID:Koyanagi 2019:31213501}" "" "c.571-5T>G p.?" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94098996A>C" "" "VUS" ""
"0000771818" "0" "90" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Koyanagi 2019:31213501}" "" "c.6320G>A p.(Arg2107His)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94001068C>T" "" "pathogenic (recessive)" ""
"0000771819" "0" "50" "1" "94487460" "94487460" "subst" "0.000113716" "01695" "ABCA4_000505" "g.94487460G>A" "" "{PMID:Koyanagi 2019:31213501}" "" "c.4715C>T p.(Thr1572Met)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94021904G>A" "" "VUS" ""
"0000771820" "0" "50" "1" "94574258" "94574258" "subst" "0.00115728" "01695" "ABCA4_001132" "g.94574258T>A" "" "{PMID:Koyanagi 2019:31213501}" "" "c.317A>T p.(Tyr106Phe)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94108702T>A" "" "VUS" ""
"0000771821" "0" "90" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Koyanagi 2019:31213501}" "" "c.6320G>A p.(Arg2107His)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94001068C>T" "" "pathogenic (recessive)" ""
"0000771822" "0" "50" "1" "94487460" "94487460" "subst" "0.000113716" "01695" "ABCA4_000505" "g.94487460G>A" "" "{PMID:Koyanagi 2019:31213501}" "" "c.4715C>T p.(Thr1572Met)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94021904G>A" "" "VUS" ""
"0000771823" "0" "50" "1" "94574258" "94574258" "subst" "0.00115728" "01695" "ABCA4_001132" "g.94574258T>A" "" "{PMID:Koyanagi 2019:31213501}" "" "c.317A>T p.(Tyr106Phe)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94108702T>A" "" "VUS" ""
"0000771824" "0" "90" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Koyanagi 2019:31213501}" "" "c.6320G>A p.(Arg2107His)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94001068C>T" "" "pathogenic (recessive)" ""
"0000771825" "0" "50" "1" "94487460" "94487460" "subst" "0.000113716" "01695" "ABCA4_000505" "g.94487460G>A" "" "{PMID:Koyanagi 2019:31213501}" "" "c.4715C>T p.(Thr1572Met)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94021904G>A" "" "VUS" ""
"0000771826" "0" "50" "1" "94574258" "94574258" "subst" "0.00115728" "01695" "ABCA4_001132" "g.94574258T>A" "" "{PMID:Koyanagi 2019:31213501}" "" "c.317A>T p.(Tyr106Phe)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94108702T>A" "" "VUS" ""
"0000771827" "0" "90" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Koyanagi 2019:31213501}" "" "c.6320G>A p.(Arg2107His)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94001068C>T" "" "pathogenic (recessive)" ""
"0000771828" "0" "50" "1" "94487460" "94487460" "subst" "0.000113716" "01695" "ABCA4_000505" "g.94487460G>A" "" "{PMID:Koyanagi 2019:31213501}" "" "c.4715C>T p.(Thr1572Met)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94021904G>A" "" "VUS" ""
"0000771829" "0" "50" "1" "94574258" "94574258" "subst" "0.00115728" "01695" "ABCA4_001132" "g.94574258T>A" "" "{PMID:Koyanagi 2019:31213501}" "" "c.317A>T p.(Tyr106Phe)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94108702T>A" "" "VUS" ""
"0000771830" "0" "90" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Koyanagi 2019:31213501}" "" "c.6320G>A p.(Arg2107His)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94001068C>T" "" "pathogenic (recessive)" ""
"0000771831" "0" "50" "1" "94487460" "94487460" "subst" "0.000113716" "01695" "ABCA4_000505" "g.94487460G>A" "" "{PMID:Koyanagi 2019:31213501}" "" "c.4715C>T p.(Thr1572Met)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94021904G>A" "" "VUS" ""
"0000771832" "0" "50" "1" "94574258" "94574258" "subst" "0.00115728" "01695" "ABCA4_001132" "g.94574258T>A" "" "{PMID:Koyanagi 2019:31213501}" "" "c.317A>T p.(Tyr106Phe)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94108702T>A" "" "VUS" ""
"0000771833" "0" "50" "1" "94471025" "94471025" "subst" "0.00031698" "01695" "ABCA4_000096" "g.94471025C>T" "" "{PMID:Koyanagi 2019:31213501}" "" "c.6119G>A p.(Arg2040Gln)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94005469C>T" "" "VUS" ""
"0000771834" "0" "50" "1" "94471025" "94471025" "subst" "0.00031698" "01695" "ABCA4_000096" "g.94471025C>T" "" "{PMID:Koyanagi 2019:31213501}" "" "c.6119G>A p.(Arg2040Gln)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94005469C>T" "" "VUS" ""
"0000771835" "0" "50" "1" "94471025" "94471025" "subst" "0.00031698" "01695" "ABCA4_000096" "g.94471025C>T" "" "{PMID:Koyanagi 2019:31213501}" "" "c.6119G>A p.(Arg2040Gln)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94005469C>T" "" "VUS" ""
"0000771836" "0" "50" "1" "94471025" "94471025" "subst" "0.00031698" "01695" "ABCA4_000096" "g.94471025C>T" "" "{PMID:Koyanagi 2019:31213501}" "" "c.6119G>A p.(Arg2040Gln)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94005469C>T" "" "VUS" ""
"0000771837" "0" "50" "1" "94471025" "94471025" "subst" "0.00031698" "01695" "ABCA4_000096" "g.94471025C>T" "" "{PMID:Koyanagi 2019:31213501}" "" "c.6119G>A p.(Arg2040Gln)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94005469C>T" "" "VUS" ""
"0000771838" "0" "50" "1" "94471025" "94471025" "subst" "0.00031698" "01695" "ABCA4_000096" "g.94471025C>T" "" "{PMID:Koyanagi 2019:31213501}" "" "c.6119G>A p.(Arg2040Gln)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94005469C>T" "" "VUS" ""
"0000771839" "0" "50" "1" "94471025" "94471025" "subst" "0.00031698" "01695" "ABCA4_000096" "g.94471025C>T" "" "{PMID:Koyanagi 2019:31213501}" "" "c.6119G>A p.(Arg2040Gln)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94005469C>T" "" "VUS" ""
"0000771840" "0" "50" "1" "94471025" "94471025" "subst" "0.00031698" "01695" "ABCA4_000096" "g.94471025C>T" "" "{PMID:Koyanagi 2019:31213501}" "" "c.6119G>A p.(Arg2040Gln)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94005469C>T" "" "VUS" ""
"0000771841" "0" "50" "1" "94471025" "94471025" "subst" "0.00031698" "01695" "ABCA4_000096" "g.94471025C>T" "" "{PMID:Koyanagi 2019:31213501}" "" "c.6119G>A p.(Arg2040Gln)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94005469C>T" "" "VUS" ""
"0000771842" "0" "70" "1" "94476477" "94476477" "subst" "0.000125969" "01695" "ABCA4_001099" "g.94476477G>A" "" "{PMID:Koyanagi 2019:31213501}" "" "c.5593C>T p.(His1865Tyr)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94010921G>A" "" "likely pathogenic (recessive)" ""
"0000771843" "0" "70" "1" "94476477" "94476477" "subst" "0.000125969" "01695" "ABCA4_001099" "g.94476477G>A" "" "{PMID:Koyanagi 2019:31213501}" "" "c.5593C>T p.(His1865Tyr)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94010921G>A" "" "likely pathogenic (recessive)" ""
"0000771844" "0" "70" "1" "94476477" "94476477" "subst" "0.000125969" "01695" "ABCA4_001099" "g.94476477G>A" "" "{PMID:Koyanagi 2019:31213501}" "" "c.5593C>T p.(His1865Tyr)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94010921G>A" "" "likely pathogenic (recessive)" ""
"0000771845" "0" "70" "1" "94476477" "94476477" "subst" "0.000125969" "01695" "ABCA4_001099" "g.94476477G>A" "" "{PMID:Koyanagi 2019:31213501}" "" "c.5593C>T p.(His1865Tyr)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94010921G>A" "" "likely pathogenic (recessive)" ""
"0000771846" "0" "70" "1" "94476477" "94476477" "subst" "0.000125969" "01695" "ABCA4_001099" "g.94476477G>A" "" "{PMID:Koyanagi 2019:31213501}" "" "c.5593C>T p.(His1865Tyr)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94010921G>A" "" "likely pathogenic (recessive)" ""
"0000771847" "0" "70" "1" "94476477" "94476477" "subst" "0.000125969" "01695" "ABCA4_001099" "g.94476477G>A" "" "{PMID:Koyanagi 2019:31213501}" "" "c.5593C>T p.(His1865Tyr)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94010921G>A" "" "likely pathogenic (recessive)" ""
"0000771848" "0" "70" "1" "94476477" "94476477" "subst" "0.000125969" "01695" "ABCA4_001099" "g.94476477G>A" "" "{PMID:Koyanagi 2019:31213501}" "" "c.5593C>T p.(His1865Tyr)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94010921G>A" "" "likely pathogenic (recessive)" ""
"0000771849" "0" "70" "1" "94476477" "94476477" "subst" "0.000125969" "01695" "ABCA4_001099" "g.94476477G>A" "" "{PMID:Koyanagi 2019:31213501}" "" "c.5593C>T p.(His1865Tyr)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94010921G>A" "" "likely pathogenic (recessive)" ""
"0000771850" "0" "70" "1" "94476477" "94476477" "subst" "0.000125969" "01695" "ABCA4_001099" "g.94476477G>A" "" "{PMID:Koyanagi 2019:31213501}" "" "c.5593C>T p.(His1865Tyr)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94010921G>A" "" "likely pathogenic (recessive)" ""
"0000771851" "0" "70" "1" "94476477" "94476477" "subst" "0.000125969" "01695" "ABCA4_001099" "g.94476477G>A" "" "{PMID:Koyanagi 2019:31213501}" "" "c.5593C>T p.(His1865Tyr)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94010921G>A" "" "likely pathogenic (recessive)" ""
"0000771852" "0" "70" "1" "94476477" "94476477" "subst" "0.000125969" "01695" "ABCA4_001099" "g.94476477G>A" "" "{PMID:Koyanagi 2019:31213501}" "" "c.5593C>T p.(His1865Tyr)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94010921G>A" "" "likely pathogenic (recessive)" ""
"0000771853" "0" "70" "1" "94476477" "94476477" "subst" "0.000125969" "01695" "ABCA4_001099" "g.94476477G>A" "" "{PMID:Koyanagi 2019:31213501}" "" "c.5593C>T p.(His1865Tyr)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94010921G>A" "" "likely pathogenic (recessive)" ""
"0000771854" "0" "50" "1" "94544208" "94544208" "subst" "0.000158364" "01695" "ABCA4_000320" "g.94544208C>T" "" "{PMID:Koyanagi 2019:31213501}" "" "c.1294G>A p.(Glu432Lys)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94078652C>T" "" "VUS" ""
"0000771855" "0" "50" "1" "94544208" "94544208" "subst" "0.000158364" "01695" "ABCA4_000320" "g.94544208C>T" "" "{PMID:Koyanagi 2019:31213501}" "" "c.1294G>A p.(Glu432Lys)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94078652C>T" "" "VUS" ""
"0000771856" "0" "50" "1" "94544208" "94544208" "subst" "0.000158364" "01695" "ABCA4_000320" "g.94544208C>T" "" "{PMID:Koyanagi 2019:31213501}" "" "c.1294G>A p.(Glu432Lys)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94078652C>T" "" "VUS" ""
"0000771857" "0" "50" "1" "94544208" "94544208" "subst" "0.000158364" "01695" "ABCA4_000320" "g.94544208C>T" "" "{PMID:Koyanagi 2019:31213501}" "" "c.1294G>A p.(Glu432Lys)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94078652C>T" "" "VUS" ""
"0000771858" "0" "50" "1" "94544208" "94544208" "subst" "0.000158364" "01695" "ABCA4_000320" "g.94544208C>T" "" "{PMID:Koyanagi 2019:31213501}" "" "c.1294G>A p.(Glu432Lys)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94078652C>T" "" "VUS" ""
"0000771859" "0" "50" "1" "94544208" "94544208" "subst" "0.000158364" "01695" "ABCA4_000320" "g.94544208C>T" "" "{PMID:Koyanagi 2019:31213501}" "" "c.1294G>A p.(Glu432Lys)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94078652C>T" "" "VUS" ""
"0000771860" "0" "50" "1" "94544208" "94544208" "subst" "0.000158364" "01695" "ABCA4_000320" "g.94544208C>T" "" "{PMID:Koyanagi 2019:31213501}" "" "c.1294G>A p.(Glu432Lys)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94078652C>T" "" "VUS" ""
"0000771861" "0" "50" "1" "94544208" "94544208" "subst" "0.000158364" "01695" "ABCA4_000320" "g.94544208C>T" "" "{PMID:Koyanagi 2019:31213501}" "" "c.1294G>A p.(Glu432Lys)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94078652C>T" "" "VUS" ""
"0000771862" "0" "50" "1" "94544208" "94544208" "subst" "0.000158364" "01695" "ABCA4_000320" "g.94544208C>T" "" "{PMID:Koyanagi 2019:31213501}" "" "c.1294G>A p.(Glu432Lys)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94078652C>T" "" "VUS" ""
"0000771863" "0" "50" "1" "94544208" "94544208" "subst" "0.000158364" "01695" "ABCA4_000320" "g.94544208C>T" "" "{PMID:Koyanagi 2019:31213501}" "" "c.1294G>A p.(Glu432Lys)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94078652C>T" "" "VUS" ""
"0000771864" "0" "50" "1" "94544208" "94544208" "subst" "0.000158364" "01695" "ABCA4_000320" "g.94544208C>T" "" "{PMID:Koyanagi 2019:31213501}" "" "c.1294G>A p.(Glu432Lys)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94078652C>T" "" "VUS" ""
"0000771865" "0" "50" "1" "94544208" "94544208" "subst" "0.000158364" "01695" "ABCA4_000320" "g.94544208C>T" "" "{PMID:Koyanagi 2019:31213501}" "" "c.1294G>A p.(Glu432Lys)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94078652C>T" "" "VUS" ""
"0000771866" "0" "50" "1" "94544208" "94544208" "subst" "0.000158364" "01695" "ABCA4_000320" "g.94544208C>T" "" "{PMID:Koyanagi 2019:31213501}" "" "c.1294G>A p.(Glu432Lys)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94078652C>T" "" "VUS" ""
"0000771867" "0" "50" "1" "94544208" "94544208" "subst" "0.000158364" "01695" "ABCA4_000320" "g.94544208C>T" "" "{PMID:Koyanagi 2019:31213501}" "" "c.1294G>A p.(Glu432Lys)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94078652C>T" "" "VUS" ""
"0000771868" "0" "50" "1" "94544208" "94544208" "subst" "0.000158364" "01695" "ABCA4_000320" "g.94544208C>T" "" "{PMID:Koyanagi 2019:31213501}" "" "c.1294G>A p.(Glu432Lys)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94078652C>T" "" "VUS" ""
"0000771869" "0" "50" "1" "94544208" "94544208" "subst" "0.000158364" "01695" "ABCA4_000320" "g.94544208C>T" "" "{PMID:Koyanagi 2019:31213501}" "" "c.1294G>A p.(Glu432Lys)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94078652C>T" "" "VUS" ""
"0000771870" "0" "50" "1" "94544208" "94544208" "subst" "0.000158364" "01695" "ABCA4_000320" "g.94544208C>T" "" "{PMID:Koyanagi 2019:31213501}" "" "c.1294G>A p.(Glu432Lys)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94078652C>T" "" "VUS" ""
"0000771871" "0" "50" "1" "94544208" "94544208" "subst" "0.000158364" "01695" "ABCA4_000320" "g.94544208C>T" "" "{PMID:Koyanagi 2019:31213501}" "" "c.1294G>A p.(Glu432Lys)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94078652C>T" "" "VUS" ""
"0000771872" "0" "50" "1" "94544208" "94544208" "subst" "0.000158364" "01695" "ABCA4_000320" "g.94544208C>T" "" "{PMID:Koyanagi 2019:31213501}" "" "c.1294G>A p.(Glu432Lys)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94078652C>T" "" "VUS" ""
"0000771873" "0" "50" "1" "94544208" "94544208" "subst" "0.000158364" "01695" "ABCA4_000320" "g.94544208C>T" "" "{PMID:Koyanagi 2019:31213501}" "" "c.1294G>A p.(Glu432Lys)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94078652C>T" "" "VUS" ""
"0000771874" "0" "50" "1" "94544208" "94544208" "subst" "0.000158364" "01695" "ABCA4_000320" "g.94544208C>T" "" "{PMID:Koyanagi 2019:31213501}" "" "c.1294G>A p.(Glu432Lys)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94078652C>T" "" "VUS" ""
"0000771875" "0" "50" "1" "94528729" "94528729" "subst" "0.000255885" "01695" "ABCA4_000297" "g.94528729C>T" "" "{PMID:Koyanagi 2019:31213501}" "" "c.1699G>A p.(Val567Met)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94063173C>T" "" "VUS" ""
"0000771876" "0" "50" "1" "94528729" "94528729" "subst" "0.000255885" "01695" "ABCA4_000297" "g.94528729C>T" "" "{PMID:Koyanagi 2019:31213501}" "" "c.1699G>A p.(Val567Met)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94063173C>T" "" "VUS" ""
"0000771877" "0" "50" "1" "94528729" "94528729" "subst" "0.000255885" "01695" "ABCA4_000297" "g.94528729C>T" "" "{PMID:Koyanagi 2019:31213501}" "" "c.1699G>A p.(Val567Met)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94063173C>T" "" "VUS" ""
"0000771878" "0" "50" "1" "94528729" "94528729" "subst" "0.000255885" "01695" "ABCA4_000297" "g.94528729C>T" "" "{PMID:Koyanagi 2019:31213501}" "" "c.1699G>A p.(Val567Met)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94063173C>T" "" "VUS" ""
"0000771879" "0" "50" "1" "94528729" "94528729" "subst" "0.000255885" "01695" "ABCA4_000297" "g.94528729C>T" "" "{PMID:Koyanagi 2019:31213501}" "" "c.1699G>A p.(Val567Met)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94063173C>T" "" "VUS" ""
"0000771880" "0" "50" "1" "94528729" "94528729" "subst" "0.000255885" "01695" "ABCA4_000297" "g.94528729C>T" "" "{PMID:Koyanagi 2019:31213501}" "" "c.1699G>A p.(Val567Met)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94063173C>T" "" "VUS" ""
"0000771881" "0" "50" "1" "94528729" "94528729" "subst" "0.000255885" "01695" "ABCA4_000297" "g.94528729C>T" "" "{PMID:Koyanagi 2019:31213501}" "" "c.1699G>A p.(Val567Met)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94063173C>T" "" "VUS" ""
"0000771882" "0" "50" "1" "94528729" "94528729" "subst" "0.000255885" "01695" "ABCA4_000297" "g.94528729C>T" "" "{PMID:Koyanagi 2019:31213501}" "" "c.1699G>A p.(Val567Met)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94063173C>T" "" "VUS" ""
"0000771883" "0" "50" "1" "94528729" "94528729" "subst" "0.000255885" "01695" "ABCA4_000297" "g.94528729C>T" "" "{PMID:Koyanagi 2019:31213501}" "" "c.1699G>A p.(Val567Met)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94063173C>T" "" "VUS" ""
"0000771884" "0" "50" "1" "94528729" "94528729" "subst" "0.000255885" "01695" "ABCA4_000297" "g.94528729C>T" "" "{PMID:Koyanagi 2019:31213501}" "" "c.1699G>A p.(Val567Met)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94063173C>T" "" "VUS" ""
"0000771885" "0" "50" "1" "94528729" "94528729" "subst" "0.000255885" "01695" "ABCA4_000297" "g.94528729C>T" "" "{PMID:Koyanagi 2019:31213501}" "" "c.1699G>A p.(Val567Met)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94063173C>T" "" "VUS" ""
"0000771886" "0" "50" "1" "94528729" "94528729" "subst" "0.000255885" "01695" "ABCA4_000297" "g.94528729C>T" "" "{PMID:Koyanagi 2019:31213501}" "" "c.1699G>A p.(Val567Met)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94063173C>T" "" "VUS" ""
"0000771887" "0" "50" "1" "94528729" "94528729" "subst" "0.000255885" "01695" "ABCA4_000297" "g.94528729C>T" "" "{PMID:Koyanagi 2019:31213501}" "" "c.1699G>A p.(Val567Met)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94063173C>T" "" "VUS" ""
"0000771888" "0" "50" "1" "94528729" "94528729" "subst" "0.000255885" "01695" "ABCA4_000297" "g.94528729C>T" "" "{PMID:Koyanagi 2019:31213501}" "" "c.1699G>A p.(Val567Met)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94063173C>T" "" "VUS" ""
"0000771889" "0" "50" "1" "94528729" "94528729" "subst" "0.000255885" "01695" "ABCA4_000297" "g.94528729C>T" "" "{PMID:Koyanagi 2019:31213501}" "" "c.1699G>A p.(Val567Met)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94063173C>T" "" "VUS" ""
"0000771890" "0" "50" "1" "94528729" "94528729" "subst" "0.000255885" "01695" "ABCA4_000297" "g.94528729C>T" "" "{PMID:Koyanagi 2019:31213501}" "" "c.1699G>A p.(Val567Met)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94063173C>T" "" "VUS" ""
"0000771891" "0" "50" "1" "94528729" "94528729" "subst" "0.000255885" "01695" "ABCA4_000297" "g.94528729C>T" "" "{PMID:Koyanagi 2019:31213501}" "" "c.1699G>A p.(Val567Met)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94063173C>T" "" "VUS" ""
"0000771892" "0" "50" "1" "94528729" "94528729" "subst" "0.000255885" "01695" "ABCA4_000297" "g.94528729C>T" "" "{PMID:Koyanagi 2019:31213501}" "" "c.1699G>A p.(Val567Met)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94063173C>T" "" "VUS" ""
"0000771893" "0" "50" "1" "94528729" "94528729" "subst" "0.000255885" "01695" "ABCA4_000297" "g.94528729C>T" "" "{PMID:Koyanagi 2019:31213501}" "" "c.1699G>A p.(Val567Met)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94063173C>T" "" "VUS" ""
"0000771894" "0" "50" "1" "94528729" "94528729" "subst" "0.000255885" "01695" "ABCA4_000297" "g.94528729C>T" "" "{PMID:Koyanagi 2019:31213501}" "" "c.1699G>A p.(Val567Met)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94063173C>T" "" "VUS" ""
"0000771895" "0" "50" "1" "94528729" "94528729" "subst" "0.000255885" "01695" "ABCA4_000297" "g.94528729C>T" "" "{PMID:Koyanagi 2019:31213501}" "" "c.1699G>A p.(Val567Met)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94063173C>T" "" "VUS" ""
"0000771896" "0" "50" "1" "94528729" "94528729" "subst" "0.000255885" "01695" "ABCA4_000297" "g.94528729C>T" "" "{PMID:Koyanagi 2019:31213501}" "" "c.1699G>A p.(Val567Met)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94063173C>T" "" "VUS" ""
"0000771897" "0" "50" "1" "94528729" "94528729" "subst" "0.000255885" "01695" "ABCA4_000297" "g.94528729C>T" "" "{PMID:Koyanagi 2019:31213501}" "" "c.1699G>A p.(Val567Met)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94063173C>T" "" "VUS" ""
"0000771898" "0" "50" "1" "94528729" "94528729" "subst" "0.000255885" "01695" "ABCA4_000297" "g.94528729C>T" "" "{PMID:Koyanagi 2019:31213501}" "" "c.1699G>A p.(Val567Met)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94063173C>T" "" "VUS" ""
"0000771899" "0" "50" "1" "94528729" "94528729" "subst" "0.000255885" "01695" "ABCA4_000297" "g.94528729C>T" "" "{PMID:Koyanagi 2019:31213501}" "" "c.1699G>A p.(Val567Met)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94063173C>T" "" "VUS" ""
"0000771900" "0" "50" "1" "94528729" "94528729" "subst" "0.000255885" "01695" "ABCA4_000297" "g.94528729C>T" "" "{PMID:Koyanagi 2019:31213501}" "" "c.1699G>A p.(Val567Met)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94063173C>T" "" "VUS" ""
"0000771901" "0" "50" "1" "94528729" "94528729" "subst" "0.000255885" "01695" "ABCA4_000297" "g.94528729C>T" "" "{PMID:Koyanagi 2019:31213501}" "" "c.1699G>A p.(Val567Met)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94063173C>T" "" "VUS" ""
"0000771902" "0" "50" "1" "94528729" "94528729" "subst" "0.000255885" "01695" "ABCA4_000297" "g.94528729C>T" "" "{PMID:Koyanagi 2019:31213501}" "" "c.1699G>A p.(Val567Met)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94063173C>T" "" "VUS" ""
"0000771903" "0" "50" "1" "94528729" "94528729" "subst" "0.000255885" "01695" "ABCA4_000297" "g.94528729C>T" "" "{PMID:Koyanagi 2019:31213501}" "" "c.1699G>A p.(Val567Met)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94063173C>T" "" "VUS" ""
"0000771904" "0" "50" "1" "94528729" "94528729" "subst" "0.000255885" "01695" "ABCA4_000297" "g.94528729C>T" "" "{PMID:Koyanagi 2019:31213501}" "" "c.1699G>A p.(Val567Met)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94063173C>T" "" "VUS" ""
"0000771905" "0" "50" "1" "94528729" "94528729" "subst" "0.000255885" "01695" "ABCA4_000297" "g.94528729C>T" "" "{PMID:Koyanagi 2019:31213501}" "" "c.1699G>A p.(Val567Met)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94063173C>T" "" "VUS" ""
"0000771906" "0" "50" "1" "94528729" "94528729" "subst" "0.000255885" "01695" "ABCA4_000297" "g.94528729C>T" "" "{PMID:Koyanagi 2019:31213501}" "" "c.1699G>A p.(Val567Met)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94063173C>T" "" "VUS" ""
"0000771907" "0" "50" "1" "94528729" "94528729" "subst" "0.000255885" "01695" "ABCA4_000297" "g.94528729C>T" "" "{PMID:Koyanagi 2019:31213501}" "" "c.1699G>A p.(Val567Met)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94063173C>T" "" "VUS" ""
"0000771908" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Reich 2020:33185728}" "" "c.1622T>C (p.Leu541Pro) c.3113C>T (p.Ala1038Val)" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000771909" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Reich 2020:33185728}" "" "c.2588G>C (p.Gly863Ala, Splice)" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000771910" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Reich 2020:33185728}" "" "c.1622T>C (p.Leu541Pro)" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000771911" "0" "90" "1" "94514475" "94514475" "subst" "0" "01695" "ABCA4_001995" "g.94514475C>A" "" "{PMID:Reich 2020:33185728}" "" "c.2692G>T (p.Glu898Xaa)" "" "Unknown" "" "" "0" "" "" "g.94048919C>A" "" "pathogenic (recessive)" ""
"0000771912" "0" "70" "1" "94490534" "94490534" "subst" "0.000125895" "01695" "ABCA4_000520" "g.94490534G>A" "" "{PMID:Reich 2020:33185728}" "" "c.4610C>T (unknown)" "" "Unknown" "" "" "0" "" "" "g.94024978G>A" "" "likely pathogenic (recessive)" ""
"0000771913" "0" "70" "1" "94490567" "94490567" "subst" "5.68528E-5" "01695" "ABCA4_000026" "g.94490567G>A" "" "{PMID:Reich 2020:33185728}" "" "c.4577C>T (p.Thr1526Met)" "" "Unknown" "" "" "0" "" "" "g.94025011G>A" "" "likely pathogenic (recessive)" ""
"0000771914" "3" "90" "1" "94528251" "94528251" "subst" "2.84824E-5" "01695" "ABCA4_000281" "g.94528251C>T" "" "{PMID:Salmaninejad 2020:33173045}" "" "c.1819G>A, p.Gly607Arg" "" "Unknown" "yes" "" "0" "" "" "g.94062695C>T" "" "pathogenic (recessive)" ""
"0000771915" "3" "90" "1" "94528251" "94528251" "subst" "2.84824E-5" "01695" "ABCA4_000281" "g.94528251C>T" "" "{PMID:Salmaninejad 2020:33173045}" "" "c.1819G>A, p.Gly607Arg" "" "Unknown" "yes" "" "0" "" "" "g.94062695C>T" "" "pathogenic (recessive)" ""
"0000771916" "3" "90" "1" "94528251" "94528251" "subst" "2.84824E-5" "01695" "ABCA4_000281" "g.94528251C>T" "" "{PMID:Salmaninejad 2020:33173045}" "" "c.1819G>A, p.Gly607Arg" "" "Unknown" "yes" "" "0" "" "" "g.94062695C>T" "" "pathogenic (recessive)" ""
"0000771917" "3" "90" "1" "94528251" "94528251" "subst" "2.84824E-5" "01695" "ABCA4_000281" "g.94528251C>T" "" "{PMID:Salmaninejad 2020:33173045}" "" "c.1819G>A, p.Gly607Arg" "" "Unknown" "yes" "" "0" "" "" "g.94062695C>T" "" "pathogenic (recessive)" ""
"0000771918" "3" "70" "1" "94508385" "94508385" "subst" "4.06095E-6" "01695" "ABCA4_001932" "g.94508385T>C" "" "{PMID:Salmaninejad 2020:33173045}" "" "c.3260A>G, p.Glu1087Gly" "" "Unknown" "yes" "" "0" "" "" "g.94042829T>C" "" "likely pathogenic (recessive)" ""
"0000771919" "3" "70" "1" "94508385" "94508385" "subst" "4.06095E-6" "01695" "ABCA4_001932" "g.94508385T>C" "" "{PMID:Salmaninejad 2020:33173045}" "" "c.3260A>G, p.Glu1087Gly" "" "Unknown" "yes" "" "0" "" "" "g.94042829T>C" "" "likely pathogenic (recessive)" ""
"0000771920" "0" "70" "1" "94508358" "94508358" "subst" "4.06167E-6" "01695" "ABCA4_000636" "g.94508358G>A" "" "{PMID:Hu 2020:33129279}" "" "c.3287C>T p.(Ser1096Leu)" "" "Unknown" "" "" "0" "" "" "g.94042802G>A" "" "likely pathogenic (recessive)" ""
"0000771921" "0" "70" "1" "94508383" "94508383" "subst" "0" "01695" "ABCA4_001299" "g.94508383G>T" "" "{PMID:Hu 2020:33129279}" "" "c.3262C>A p.(Pro1088Thr)" "" "Unknown" "" "" "0" "" "" "g.94042827G>T" "" "likely pathogenic (recessive)" ""
"0000771922" "0" "90" "1" "94497396" "94497396" "subst" "0" "01695" "ABCA4_001291" "g.94497396G>A" "" "{PMID:Hu 2020:33129279}" "" "c.4066C>T p.(Gln1356*)" "" "Unknown" "" "" "0" "" "" "g.94031840G>A" "" "pathogenic (recessive)" ""
"0000771923" "0" "70" "1" "94476813" "94476813" "subst" "0" "01695" "ABCA4_000426" "g.94476813C>T" "" "{PMID:Hu 2020:33129279}" "" "c.5584+5G>A p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "" "Unknown" "" "" "0" "" "" "g.94011257C>T" "" "likely pathogenic (recessive)" ""
"0000771924" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Hu 2020:33129279}" "" "c.5882G>A p.(Gly1961Glu)" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000771925" "0" "50" "1" "94526219" "94526219" "subst" "4.06673E-6" "01695" "ABCA4_000759" "g.94526219C>A" "" "{PMID:Hu 2020:33129279}" "" "c.2034G>T p.(Lys678Asn)" "" "Unknown" "" "" "0" "" "" "g.94060663C>A" "" "VUS" ""
"0000771926" "0" "90" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Hu 2020:33129279}" "" "c.2894A>G p.(Asn965Ser)" "" "Unknown" "" "" "0" "" "" "g.94046943T>C" "" "pathogenic (recessive)" ""
"0000771927" "0" "90" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Hu 2020:33129279}" "" "c.2894A>G p.(Asn965Ser)" "" "Unknown" "" "" "0" "" "" "g.94046943T>C" "" "pathogenic (recessive)" ""
"0000771928" "0" "90" "1" "94528668" "94528668" "subst" "0" "01695" "ABCA4_001313" "g.94528668C>T" "" "{PMID:Hu 2020:33129279}" "" "c.1760G>A p.(Arg587Lys)" "" "Unknown" "" "" "0" "" "" "g.94063112C>T" "" "pathogenic (recessive)" ""
"0000771929" "0" "70" "1" "94528178" "94528178" "subst" "4.06666E-6" "01695" "ABCA4_001312" "g.94528178C>A" "" "{PMID:Hu 2020:33129279}" "" "c.1892G>T p.(Gly631Val)" "" "Unknown" "" "" "0" "" "" "g.94062622C>A" "" "likely pathogenic (recessive)" ""
"0000771930" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Hu 2020:33129279}" "" "c.3322C>T p.(Arg1108Cys)" "" "Unknown" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000771931" "0" "70" "1" "94485167" "94485167" "subst" "0" "01695" "ABCA4_001356" "g.94485167A>G" "" "{PMID:Hu 2020:33129279}" "" "c.5167T>C p.(Tyr1723His)" "" "Unknown" "" "" "0" "" "" "g.94019611A>G" "" "likely pathogenic (recessive)" ""
"0000771932" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Oh 2020:32445700}" "" "c.4139C>T:p.Pro1380Leu," "" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000771933" "0" "70" "1" "94509017" "94509017" "subst" "0" "01695" "ABCA4_000658" "g.94509017T>C" "" "{PMID:Oh 2020:32445700}" "" "c.3065A>G:p.Glu1022Gly," "" "Unknown" "" "" "0" "" "" "g.94043461T>C" "" "likely pathogenic (recessive)" ""
"0000771934" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Oh 2020:32445700}" "" "c.1622T>C:p.Leu541Pro," "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000771935" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Oh 2020:32445700}" "" "c.1622T>C:p.Leu541Pro," "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000771936" "3" "70" "1" "94466627" "94466627" "subst" "4.06408E-6" "01695" "ABCA4_000867" "g.94466627C>T" "" "{PMID:Georgiou 2019:31812472}" "" "c.6317G>A p.Arg2106His" "" "Unknown" "" "" "0" "" "" "g.94001071C>T" "" "likely pathogenic (recessive)" ""
"0000771937" "0" "50" "1" "94487436" "94487436" "subst" "2.03047E-5" "01695" "ABCA4_000498" "g.94487436A>G" "" "{PMID:Georgiou 2019:31812472}" "" "c.4739T>C p.Leu1580Ser" "" "Unknown" "" "" "0" "" "" "g.94021880A>G" "" "VUS" ""
"0000771938" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Georgiou 2019:31812472}" "" "c.5882G>A p.Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000771939" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Georgiou 2019:31812472}" "" "c.5882G>A p.Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000771940" "0" "70" "1" "94463399" "94463413" "del" "0" "01695" "ABCA4_000851" "g.94463399_94463413del" "" "{PMID:Georgiou 2019:31812472}" "" "c.6729+5_19del15 p.Phe2161Cysfs*3" "" "Unknown" "" "" "0" "" "" "g.93997843_93997857del" "" "likely pathogenic (recessive)" ""
"0000771941" "0" "70" "1" "94520732" "94520732" "subst" "0" "01695" "ABCA4_000973" "g.94520732T>G" "" "{PMID:Georgiou 2019:31812472}" "" "c.2522A>C p.Gln841Pro" "" "Unknown" "" "" "0" "" "" "g.94055176T>G" "" "likely pathogenic (recessive)" ""
"0000771942" "0" "90" "1" "94485137" "94485137" "subst" "0" "01695" "ABCA4_000465" "g.94485137C>A" "" "{PMID:Georgiou 2019:31812472}" "" "c.5196+1G>T Splice" "" "Unknown" "" "" "0" "" "" "g.94019581C>A" "" "pathogenic (recessive)" ""
"0000771943" "3" "70" "1" "94546283" "94546283" "subst" "8.18311E-5" "01695" "ABCA4_000356" "g.94546283A>G" "" "{PMID:Georgiou 2019:31812472}" "" "c.859?9T>C Splice" "" "Unknown" "" "" "0" "" "" "g.94080727A>G" "" "likely pathogenic (recessive)" ""
"0000771944" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Georgiou 2019:31812472}" "" "c.5882G>A p.Gly1961Glu" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000771945" "0" "90" "1" "94488972" "94488972" "subst" "0" "01695" "ABCA4_001777" "g.94488972A>C" "" "{PMID:Georgiou 2019:31812472}" "" "c.4637T>G p.Leu1546Ter" "" "Unknown" "" "" "0" "" "" "g.94023416A>C" "" "pathogenic (recessive)" ""
"0000771946" "0" "90" "1" "94520733" "94520733" "subst" "4.06345E-6" "01695" "ABCA4_000717" "g.94520733G>A" "" "{PMID:Georgiou 2019:31812472}" "" "c.2521C>T p.Gln841Ter" "" "Unknown" "" "" "0" "" "" "g.94055177G>A" "" "pathogenic (recessive)" ""
"0000771947" "0" "90" "1" "94520733" "94520733" "subst" "4.06345E-6" "01695" "ABCA4_000717" "g.94520733G>A" "" "{PMID:Georgiou 2019:31812472}" "" "c.2521C>T p.Gln841Ter" "" "Unknown" "" "" "0" "" "" "g.94055177G>A" "" "pathogenic (recessive)" ""
"0000771948" "0" "90" "1" "94564548" "94564548" "subst" "0" "01695" "ABCA4_000197" "g.94564548C>A" "" "{PMID:Georgiou 2019:31812472}" "" "c.571-1G>T Splice" "" "Unknown" "" "" "0" "" "" "g.94098992C>A" "" "pathogenic (recessive)" ""
"0000771949" "0" "90" "1" "94483922" "94483922" "subst" "0" "01695" "ABCA4_000027" "g.94483922G>T" "" "{PMID:Georgiou 2019:31812472}" "" "c.5196+1216C>A Deep intronic change" "" "Unknown" "" "" "0" "" "" "g.94018366G>T" "" "pathogenic (recessive)" ""
"0000771950" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Georgiou 2019:31812472}" "" "c.3322C>T p.Arg1108Cys" "" "Unknown" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000771951" "0" "70" "1" "94467487" "94467487" "subst" "0" "01695" "ABCA4_000783" "g.94467487G>C" "" "{PMID:Georgiou 2019:31812472}" "" "c.6209C>G p.Thr2070Arg" "" "Unknown" "" "" "0" "" "" "g.94001931G>C" "" "likely pathogenic (recessive)" ""
"0000771952" "0" "70" "1" "94467487" "94467487" "subst" "0" "01695" "ABCA4_000783" "g.94467487G>C" "" "{PMID:Georgiou 2019:31812472}" "" "c.6209C>G p.Thr2070Arg" "" "Unknown" "" "" "0" "" "" "g.94001931G>C" "" "likely pathogenic (recessive)" ""
"0000771953" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Georgiou 2019:31812472}" "" "c.2588G>C p.Gly863Ala" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000771954" "0" "70" "1" "94577135" "94577135" "subst" "2.43718E-5" "01695" "ABCA4_000240" "g.94577135C>T" "" "{PMID:Georgiou 2019:31812472}" "" "c.161G>A p.Cys54Tyr" "" "Unknown" "" "" "0" "" "" "g.94111579C>T" "" "likely pathogenic (recessive)" ""
"0000771955" "0" "70" "1" "94471055" "94471055" "subst" "0.00035346" "01695" "ABCA4_000029" "g.94471055C>T" "" "{PMID:Georgiou 2019:31812472}" "" "c.6089G>A p.Arg2030Gln" "" "Unknown" "" "" "0" "" "" "g.94005499C>T" "" "likely pathogenic (recessive)" ""
"0000771956" "0" "50" "1" "94487297" "94487297" "subst" "1.22574E-5" "01695" "ABCA4_001758" "g.94487297A>G" "" "{PMID:Georgiou 2019:31812472}" "" "c.4774-27T>C Deep" "" "Unknown" "" "" "0" "" "" "g.94021741A>G" "" "VUS" ""
"0000771957" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Georgiou 2019:31812472}" "" "c.5461-10T>C" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000771958" "0" "90" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Georgiou 2019:31812472}" "" "c.2894A>G p.Asn965Ser" "" "Unknown" "" "" "0" "" "" "g.94046943T>C" "" "pathogenic (recessive)" ""
"0000771959" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Georgiou 2019:31812472}" "" "c.5461-10T>C" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000771960" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Georgiou 2019:31812472}" "" "c.5882G>A p.Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000771961" "0" "70" "1" "94490567" "94490567" "subst" "5.68528E-5" "01695" "ABCA4_000026" "g.94490567G>A" "" "{PMID:Georgiou 2019:31812472}" "" "c.4577C>T p.Thr1526Met" "" "Unknown" "" "" "0" "" "" "g.94025011G>A" "" "likely pathogenic (recessive)" ""
"0000771962" "0" "90" "1" "94473254" "94473264" "dup" "0" "01695" "ABCA4_001637" "g.94473254_94473264dup" "" "{PMID:Georgiou 2019:31812472}" "" "c.5931_5941dup11 p.Phe1982LysfsTer14" "" "Unknown" "" "" "0" "" "" "g.94007698_94007708dup" "" "pathogenic (recessive)" ""
"0000771963" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Georgiou 2019:31812472}" "" "c.2588G>C p.Gly863Ala" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000771964" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Georgiou 2019:31812472}" "" "c.5882G>A p.Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000771965" "0" "70" "1" "94506975" "94506975" "subst" "4.06227E-6" "01695" "ABCA4_001915" "g.94506975A>C" "" "{PMID:Georgiou 2019:31812472}" "" "c.3329-17T>G Deep intronic change" "" "Unknown" "" "" "0" "" "" "g.94041419A>C" "" "likely pathogenic (recessive)" ""
"0000771966" "0" "90" "1" "94528164" "94528164" "subst" "2.03336E-5" "01695" "ABCA4_000267" "g.94528164G>A" "" "{PMID:Georgiou 2019:31812472}" "" "c.1906C>T p.Gln636Ter" "" "Unknown" "" "" "0" "" "" "g.94062608G>A" "" "pathogenic (recessive)" ""
"0000771967" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Georgiou 2019:31812472}" "" "c.6079C>T p.Leu2027Phe" "" "Unknown" "" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic (recessive)" ""
"0000771968" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Georgiou 2019:31812472}" "" "c.2588G>C p.Gly863Ala" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000771969" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Georgiou 2019:31812472}" "" "c.5882G>A p.Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000771970" "0" "70" "1" "94544249" "94544249" "subst" "8.12196E-6" "01695" "ABCA4_000323" "g.94544249A>G" "" "{PMID:Georgiou 2019:31812472}" "" "c.1253T>C p.Phe418Ser" "" "Unknown" "" "" "0" "" "" "g.94078693A>G" "" "likely pathogenic (recessive)" ""
"0000771971" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Georgiou 2019:31812472}" "" "c.5882G>A p.Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000771972" "3" "90" "1" "94473293" "94473293" "del" "0" "01695" "ABCA4_001641" "g.94473293del" "" "{PMID:Georgiou 2019:31812472}" "" "c.5904delT p.Phe1968LeufsTer6" "" "Unknown" "" "" "0" "" "" "g.94007737del" "" "pathogenic (recessive)" ""
"0000771973" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Georgiou 2019:31812472}" "" "c.1622T>C p.Leu541Pro" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000771974" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Georgiou 2019:31812472}" "" "c.3322C>T p.Arg1108Cys" "" "Unknown" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000771975" "3" "70" "1" "94487505" "94487505" "subst" "4.06349E-6" "01695" "ABCA4_000507" "g.94487505T>C" "" "{PMID:Georgiou 2019:31812472}" "" "c.4670A>G p.Tyr1557Cys" "" "Unknown" "" "" "0" "" "" "g.94021949T>C" "" "likely pathogenic (recessive)" ""
"0000771976" "3" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Georgiou 2019:31812472}" "" "c.5882G>A p.Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000771977" "3" "70" "1" "94463399" "94463413" "del" "0" "01695" "ABCA4_000851" "g.94463399_94463413del" "" "{PMID:Georgiou 2019:31812472}" "" "c.6729+5_19delGTTGGCCCTGGGGCA" "" "Unknown" "" "" "0" "" "" "g.93997843_93997857del" "" "likely pathogenic (recessive)" ""
"0000771978" "3" "90" "1" "94473278" "94473278" "del" "3.25908E-5" "01695" "ABCA4_000392" "g.94473278del" "" "{PMID:Georgiou 2019:31812472}" "" "c.5917delG p.Val1973Ter" "" "Unknown" "" "" "0" "" "" "g.94007722del" "" "pathogenic (recessive)" ""
"0000771979" "0" "90" "1" "94526154" "94526154" "subst" "4.06441E-6" "01695" "ABCA4_000752" "g.94526154C>T" "" "{PMID:Sodi 2018:30285522}" "" "c.2099G>A p.(Trp700X)" "" "Unknown" "" "" "0" "" "" "g.94060598C>T" "" "pathogenic (recessive)" ""
"0000771980" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sodi 2018:30285522}" "" "c.5882G>A p.(Gly1961Glu)" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000771981" "3" "70" "1" "94520793" "94520793" "subst" "8.13292E-6" "01695" "ABCA4_000723" "g.94520793A>T" "" "{PMID:Sodi 2018:30285522}" "" "c.2461T>A p.(Trp821Arg)" "" "Unknown" "" "" "0" "" "" "g.94055237A>T" "" "likely pathogenic (recessive)" ""
"0000771982" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sodi 2018:30285522}" "" "c.5882G>A p.(Gly1961Glu)" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000771983" "3" "50" "1" "94496039" "94496039" "subst" "0.00157963" "01695" "ABCA4_000552" "g.94496039C>T" "" "{PMID:Sodi 2018:30285522}" "" "c.4297G>A p.(Val1433Ile)" "" "Unknown" "" "" "0" "" "" "g.94030483C>T" "" "VUS" ""
"0000771984" "0" "90" "1" "94510286" "94510286" "subst" "0" "01695" "ABCA4_000182" "g.94510286C>T" "" "{PMID:Sodi 2018:30285522}" "" "c.2933G>A p.(Gly978Asp)" "" "Unknown" "" "" "0" "" "" "g.94044730C>T" "" "pathogenic (recessive)" ""
"0000771985" "0" "90" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Sodi 2018:30285522}" "" "c.634C>T p.(Arg212Cys)" "" "Unknown" "" "" "0" "" "" "g.94098928G>A" "" "pathogenic (recessive)" ""
"0000771986" "0" "90" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Sodi 2018:30285522}" "" "c.634C>T p.(Arg212Cys)" "" "Unknown" "" "" "0" "" "" "g.94098928G>A" "" "pathogenic (recessive)" ""
"0000771987" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sodi 2018:30285522}" "" "c.5882G>A p.(Gly1961Glu)" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000771988" "0" "90" "1" "94577046" "94577049" "dup" "0" "01695" "ABCA4_000227" "g.94577046_94577049dup" "" "{PMID:Sodi 2018:30285522}" "" "c.247_250dup p.(Ser84Thrfs*16)" "" "Unknown" "" "" "0" "" "" "g.94111490_94111493dup" "" "pathogenic (recessive)" ""
"0000771989" "0" "90" "1" "94544877" "94544877" "subst" "4.06124E-6" "01695" "ABCA4_000326" "g.94544877C>G" "" "{PMID:Sodi 2018:30285522}" "" "c.1239+1G>C p.(?)" "" "Unknown" "" "" "0" "" "" "g.94079321C>G" "" "pathogenic (recessive)" ""
"0000771990" "0" "90" "1" "94522194" "94522194" "subst" "0" "01695" "ABCA4_000733" "g.94522194C>T" "" "{PMID:Sodi 2018:30285522}" "" "c.2345G>A p.(Trp782*)" "" "Unknown" "" "" "0" "" "" "g.94056638C>T" "" "pathogenic (recessive)" ""
"0000771991" "0" "70" "1" "94522239" "94522239" "subst" "2.03305E-5" "01695" "ABCA4_000736" "g.94522239A>T" "" "{PMID:Sodi 2018:30285522}" "" "c.2300T>A p.(Val767Asp)" "" "Unknown" "" "" "0" "" "" "g.94056683A>T" "" "likely pathogenic (recessive)" ""
"0000771992" "0" "70" "1" "94502904" "94502904" "subst" "2.03899E-5" "01695" "ABCA4_000604" "g.94502904C>T" "" "{PMID:Sodi 2018:30285522}" "" "c.3610G>A p.(Asp1204Asn)" "" "Unknown" "" "" "0" "" "" "g.94037348C>T" "" "likely pathogenic (recessive)" ""
"0000771993" "0" "70" "1" "94520793" "94520793" "subst" "8.13292E-6" "01695" "ABCA4_000723" "g.94520793A>T" "" "{PMID:Sodi 2018:30285522}" "" "c.2461T>A p.(Trp821Arg)" "" "Unknown" "" "" "0" "" "" "g.94055237A>T" "" "likely pathogenic (recessive)" ""
"0000771994" "0" "50" "1" "94512602" "94512602" "subst" "0.000369717" "01695" "ABCA4_000052" "g.94512602C>T" "" "{PMID:Sodi 2018:30285522}" "" "c.2791G>A p.(Val931Met)" "" "Unknown" "" "" "0" "" "" "g.94047046C>T" "" "VUS" ""
"0000771995" "0" "90" "1" "94564548" "94564548" "subst" "0" "01695" "ABCA4_000197" "g.94564548C>A" "" "{PMID:Sodi 2018:30285522}" "" "c.571-1G>T p.(?)" "" "Unknown" "" "" "0" "" "" "g.94098992C>A" "" "pathogenic (recessive)" ""
"0000771996" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sodi 2018:30285522}" "" "c.5882G>A p.(Gly1961Glu)" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000771997" "0" "50" "1" "94512602" "94512602" "subst" "0.000369717" "01695" "ABCA4_000052" "g.94512602C>T" "" "{PMID:Sodi 2018:30285522}" "" "c.2791G>A p.(Val931Met)" "" "Unknown" "" "" "0" "" "" "g.94047046C>T" "" "VUS" ""
"0000771998" "0" "90" "1" "94528132" "94528132" "subst" "4.06835E-6" "01695" "ABCA4_000773" "g.94528132C>T" "" "{PMID:Sodi 2018:30285522}" "" "c.1937+1G>A p.(?)" "" "Unknown" "" "" "0" "" "" "g.94062576C>T" "" "pathogenic (recessive)" ""
"0000771999" "0" "70" "1" "94526184" "94526184" "subst" "0" "01695" "ABCA4_000755" "g.94526184C>A" "" "{PMID:Sodi 2018:30285522}" "" "c.2069G>T p.(Gly690Val)" "" "Unknown" "" "" "0" "" "" "g.94060628C>A" "" "likely pathogenic (recessive)" ""
"0000772000" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sodi 2018:30285522}" "" "c.5882G>A p.(Gly1961Glu)" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000772001" "0" "90" "1" "94495103" "94495103" "subst" "0" "01695" "ABCA4_001813" "g.94495103C>T" "" "{PMID:Sodi 2018:30285522}" "" "c.4437G>A p.(Trp1479*)" "" "Unknown" "" "" "0" "" "" "g.94029547C>T" "" "pathogenic (recessive)" ""
"0000772002" "0" "90" "1" "94508353" "94508353" "subst" "2.8431E-5" "01695" "ABCA4_000141" "g.94508353G>A" "" "{PMID:Sodi 2018:30285522}" "" "c.3292C>T p.(Arg1098Cys)" "" "Unknown" "" "" "0" "" "" "g.94042797G>A" "" "pathogenic (recessive)" ""
"0000772003" "0" "50" "1" "94528224" "94528224" "subst" "0" "01695" "ABCA4_000275" "g.94528224C>T" "" "{PMID:Sodi 2018:30285522}" "" "c.1846G>A p.(Glu616Lys)" "" "Unknown" "" "" "0" "" "" "g.94062668C>T" "" "VUS" ""
"0000772004" "0" "70" "1" "94495123" "94495123" "subst" "0.000117967" "01695" "ABCA4_000544" "g.94495123G>T" "" "{PMID:Sodi 2018:30285522}" "" "c.4417C>A p.(Leu1473Met)" "" "Unknown" "" "" "0" "" "" "g.94029567G>T" "" "likely pathogenic (recessive)" ""
"0000772005" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sodi 2018:30285522}" "" "c.5882G>A p.(Gly1961Glu)" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000772006" "0" "70" "1" "94520793" "94520793" "subst" "8.13292E-6" "01695" "ABCA4_000723" "g.94520793A>T" "" "{PMID:Sodi 2018:30285522}" "" "c.2461T>A p.(Trp821Arg)" "" "Unknown" "" "" "0" "" "" "g.94055237A>T" "" "likely pathogenic (recessive)" ""
"0000772007" "0" "90" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Sodi 2018:30285522}" "" "c.2894A>G p.(Asn965Ser)" "" "Unknown" "" "" "0" "" "" "g.94046943T>C" "" "pathogenic (recessive)" ""
"0000772008" "0" "70" "1" "94512506" "94512506" "subst" "0" "01695" "ABCA4_001982" "g.94512506C>G" "" "{PMID:Sodi 2018:30285522}" "" "c.2887G>C p.(Gly963Arg)" "" "Unknown" "" "" "0" "" "" "g.94046950C>G" "" "likely pathogenic (recessive)" ""
"0000772009" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sodi 2018:30285522}" "" "c.5882G>A p.(Gly1961Glu)" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000772010" "0" "90" "1" "94488941" "94488941" "subst" "4.09836E-6" "01695" "ABCA4_000127" "g.94488941C>T" "" "{PMID:Sodi 2018:30285522}" "" "c.4667+1G>A p.(?)" "" "Unknown" "" "" "0" "" "" "g.94023385C>T" "" "pathogenic (recessive)" ""
"0000772011" "0" "70" "1" "94577008" "94577008" "subst" "0" "01695" "ABCA4_000223" "g.94577008G>T" "" "{PMID:Sodi 2018:30285522}" "" "c.288C>A p.(Asn96Lys)" "" "Unknown" "" "" "0" "" "" "g.94111452G>T" "" "likely pathogenic (recessive)" ""
"0000772012" "0" "70" "1" "94495157" "94495157" "subst" "4.06752E-6" "01695" "ABCA4_001815" "g.94495157C>G" "" "{PMID:Sodi 2018:30285522}" "" "c.4383G>C p.(Trp1461Cys)" "" "Unknown" "" "" "0" "" "" "g.94029601C>G" "" "likely pathogenic (recessive)" ""
"0000772013" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Sodi 2018:30285522}" "" "c.5714+5G>A p.(?)" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000772014" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sodi 2018:30285522}" "" "c.5882G>A p.(Gly1961Glu)" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000772015" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sodi 2018:30285522}" "" "c.5882G>A p.(Gly1961Glu)" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000772016" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sodi 2018:30285522}" "" "c.5882G>A p.(Gly1961Glu)" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000772017" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sodi 2018:30285522}" "" "c.5882G>A p.(Gly1961Glu)" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000772018" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sodi 2018:30285522}" "" "c.5882G>A p.(Gly1961Glu)" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000772019" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sodi 2018:30285522}" "" "c.5882G>A p.(Gly1961Glu)" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000772020" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sodi 2018:30285522}" "" "c.5882G>A p.(Gly1961Glu)" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000772021" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sodi 2018:30285522}" "" "c.5882G>A p.(Gly1961Glu)" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000772022" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sodi 2018:30285522}" "" "c.5882G>A p.(Gly1961Glu)" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000772023" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sodi 2018:30285522}" "" "c.5882G>A p.(Gly1961Glu)" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000772024" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sodi 2018:30285522}" "" "c.5882G>A p.(Gly1961Glu)" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000772025" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sodi 2018:30285522}" "" "c.5882G>A p.(Gly1961Glu)" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000772026" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sodi 2018:30285522}" "" "c.5882G>A p.(Gly1961Glu)" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000772027" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sodi 2018:30285522}" "" "c.5882G>A p.(Gly1961Glu)" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000772028" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sodi 2018:30285522}" "" "c.5882G>A p.(Gly1961Glu)" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000772029" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sodi 2018:30285522}" "" "c.5882G>A p.(Gly1961Glu)" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000772030" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sodi 2018:30285522}" "" "c.5882G>A p.(Gly1961Glu)" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000772031" "0" "70" "1" "94512485" "94512485" "subst" "0" "01695" "ABCA4_000681" "g.94512485T>G" "" "{PMID:Sodi 2018:30285522}" "" "c.2908A>C p.(Thr970Pro)" "" "Unknown" "" "" "0" "" "" "g.94046929T>G" "" "likely pathogenic (recessive)" ""
"0000772032" "0" "90" "1" "94505622" "94505623" "ins" "0" "01695" "ABCA4_001888" "g.94505622_94505623insCA" "" "{PMID:Sodi 2018:30285522}" "" "c.3584_3585insGT p.(Thr1196*)" "" "Unknown" "" "" "0" "" "" "g.94040066_94040067insCA" "" "pathogenic (recessive)" ""
"0000772033" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Alabduljalil 2019:30771335}" "" "c.5882G>A" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000772034" "0" "90" "1" "94544895" "94544895" "subst" "1.62455E-5" "01695" "ABCA4_000329" "g.94544895G>A" "" "{PMID:Alabduljalil 2019:30771335}" "" "c.1222 C>T" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94079339G>A" "" "pathogenic (recessive)" ""
"0000772035" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Alabduljalil 2019:30771335}" "" "c.5714+5G>A" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000772036" "0" "70" "1" "94466422" "94466422" "subst" "2.43651E-5" "01695" "ABCA4_000817" "g.94466422C>T" "" "{PMID:Alabduljalil 2019:30771335}" "" "c.6449G>A" "" "Unknown" "" "" "0" "" "" "g.94000866C>T" "" "likely pathogenic (recessive)" ""
"0000772037" "0" "70" "1" "94495003" "94495003" "subst" "2.67971E-5" "01695" "ABCA4_001800" "g.94495003G>C" "" "{PMID:Alabduljalil 2019:30771335}" "" "c.4537C>G" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94029447G>C" "" "likely pathogenic (recessive)" ""
"0000772038" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Alabduljalil 2019:30771335}" "" "c.5882G>A" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000772039" "0" "90" "1" "94526212" "94526212" "subst" "1.22012E-5" "01695" "ABCA4_000075" "g.94526212G>A" "" "{PMID:Alabduljalil 2019:30771335}" "" "c.2041C>T" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94060656G>A" "" "pathogenic (recessive)" ""
"0000772040" "0" "70" "1" "94484001" "94484001" "subst" "0" "01695" "ABCA4_000016" "g.94484001C>T" "" "{PMID:Alabduljalil 2019:30771335}" "" "c.5196+1137G>A" "" "Unknown" "" "" "0" "" "" "g.94018445C>T" "" "likely pathogenic (recessive)" ""
"0000772041" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Alabduljalil 2019:30771335}" "" "c.2588G>C" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000772042" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Alabduljalil 2019:30771335}" "" "c.5461–10T>C" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000772043" "0" "70" "1" "94510272" "94510272" "subst" "4.06062E-6" "01695" "ABCA4_000070" "g.94510272T>C" "" "{PMID:Alabduljalil 2019:30771335}" "" "c.2947A>G" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94044716T>C" "" "likely pathogenic (recessive)" ""
"0000772044" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Alabduljalil 2019:30771335}" "" "c.1622T>C" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000772045" "0" "70" "1" "94496583" "94496583" "subst" "2.03092E-5" "01695" "ABCA4_000190" "g.94496583A>G" "" "{PMID:Alabduljalil 2019:30771335}" "" "c.4222T >C" "" "Unknown" "" "" "0" "" "" "g.94031027A>G" "" "likely pathogenic (recessive)" ""
"0000772046" "0" "50" "1" "94487436" "94487436" "subst" "2.03047E-5" "01695" "ABCA4_000498" "g.94487436A>G" "" "{PMID:Alabduljalil 2019:30771335}" "" "c.4739T>C" "" "Unknown" "" "" "0" "" "" "g.94021880A>G" "" "VUS" ""
"0000772047" "0" "70" "1" "94495083" "94495083" "subst" "0.000124542" "01695" "ABCA4_000542" "g.94495083G>A" "" "{PMID:Alabduljalil 2019:30771335}" "" "c.4457C>T" "" "Unknown" "" "" "0" "" "" "g.94029527G>A" "" "likely pathogenic (recessive)" ""
"0000772048" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Alabduljalil 2019:30771335}" "" "c.5714+5G>A" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000772049" "0" "90" "1" "94496571" "94496571" "subst" "4.06174E-6" "01695" "ABCA4_000111" "g.94496571G>A" "" "{PMID:Alabduljalil 2019:30771335}" "" "c.4234C>T" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94031015G>A" "" "pathogenic (recessive)" ""
"0000772050" "0" "70" "1" "94467467" "94467467" "subst" "4.06164E-6" "01695" "ABCA4_000780" "g.94467467G>A" "" "{PMID:Alabduljalil 2019:30771335}" "" "c.6229C>T" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94001911G>A" "" "likely pathogenic (recessive)" ""
"0000772051" "0" "90" "1" "94473298" "94473298" "del" "0" "01695" "ABCA4_000396" "g.94473298del" "" "{PMID:Alabduljalil 2019:30771335}" "" "c.5899–2delA" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94007742del" "" "pathogenic (recessive)" ""
"0000772052" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Alabduljalil 2019:30771335}" "" "c.2588G>C" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000772053" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Chen 2019:31015497}" "" "p.G1961E" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000772054" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Chen 2019:31015497}" "" "p.G1961E" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000772055" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Chen 2019:31015497}" "" "p.[L541P;A1038V]" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000772056" "0" "90" "1" "94480243" "94480243" "subst" "4.06124E-6" "01695" "ABCA4_000448" "g.94480243C>T" "" "{PMID:Chen 2019:31015497}" "" "p.W1772*" "" "Unknown" "" "" "0" "" "" "g.94014687C>T" "" "pathogenic (recessive)" ""
"0000772057" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Chen 2019:31015497}" "" "p.[L541P;A1038V]" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000772058" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Chen 2019:31015497}" "" "p.G1961E" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000772059" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Chen 2019:31015497}" "" "p.L541P" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000772060" "0" "90" "1" "94510253" "94510253" "subst" "0.000247694" "01695" "ABCA4_000108" "g.94510253A>G" "" "{PMID:Chen 2019:31015497}" "" "p.V989A" "" "Unknown" "" "" "0" "" "" "g.94044697A>G" "" "pathogenic (recessive)" ""
"0000772061" "0" "70" "1" "94577034" "94577034" "subst" "4.06441E-6" "01695" "ABCA4_002223" "g.94577034C>T" "" "{PMID:Chen 2019:31015497}" "" "p.G88R" "" "Unknown" "" "" "0" "" "" "g.94111478C>T" "" "likely pathogenic (recessive)" ""
"0000772062" "0" "90" "1" "94510248" "94510248" "subst" "0.000544123" "01695" "ABCA4_000107" "g.94510248C>G" "" "{PMID:Chen 2019:31015497}" "" "p.G991R" "" "Unknown" "" "" "0" "" "" "g.94044692C>G" "" "pathogenic (recessive)" ""
"0000772063" "0" "70" "1" "94577135" "94577135" "subst" "2.43718E-5" "01695" "ABCA4_000240" "g.94577135C>T" "" "{PMID:Chen 2019:31015497}" "" "p.C54Y" "" "Unknown" "" "" "0" "" "" "g.94111579C>T" "" "likely pathogenic (recessive)" ""
"0000772064" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Chen 2019:31015497}" "" "p.R1108C" "" "Unknown" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000772065" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Chen 2019:31015497}" "" "p.[L541P;A1038V]" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000772066" "0" "70" "1" "94510178" "94510178" "subst" "0" "01695" "ABCA4_000664" "g.94510178A>C" "" "{PMID:Chen 2019:31015497}" "" "p.L1014R" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94044622A>C" "" "likely pathogenic (recessive)" ""
"0000772067" "0" "90" "1" "94526265" "94526265" "subst" "0" "01695" "ABCA4_000143" "g.94526265C>T" "" "{PMID:Chen 2019:31015497}" "" "p.W663*" "" "Unknown" "" "" "0" "" "" "g.94060709C>T" "" "pathogenic (recessive)" ""
"0000772068" "0" "70" "1" "94467467" "94467467" "subst" "4.06164E-6" "01695" "ABCA4_000780" "g.94467467G>A" "" "{PMID:Chen 2019:31015497}" "" "p.R2077W" "" "Unknown" "" "" "0" "" "" "g.94001911G>A" "" "likely pathogenic (recessive)" ""
"0000772069" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Chen 2019:31015497}" "" "p.[L541P;A1038V]" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000772070" "0" "70" "1" "94485221" "94485221" "subst" "0" "01695" "ABCA4_000471" "g.94485221G>A" "" "{PMID:Chen 2019:31015497}" "" "p.R1705W" "" "Unknown" "" "" "0" "" "" "g.94019665G>A" "" "likely pathogenic (recessive)" ""
"0000772071" "0" "70" "1" "94512478" "94512478" "subst" "3.65871E-5" "01695" "ABCA4_000678" "g.94512478G>T" "" "{PMID:Chen 2019:31015497}" "" "p.T972N" "" "Unknown" "" "" "0" "" "" "g.94046922G>T" "" "likely pathogenic (recessive)" ""
"0000772072" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Chen 2019:31015497}" "" "p.P1380L" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000772073" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Chen 2019:31015497}" "" "p.[L541P;A1038V]" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000772074" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Chen 2019:31015497}" "" "p.G1961E" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000772075" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Chen 2019:31015497}" "" "p.[L541P;A1038V]" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000772076" "0" "90" "1" "94520690" "94520690" "subst" "2.03102E-5" "01695" "ABCA4_000149" "g.94520690C>T" "" "{PMID:Chen 2019:31015497}" "" "p.W855*" "" "Unknown" "" "" "0" "" "" "g.94055134C>T" "" "pathogenic (recessive)" ""
"0000772077" "0" "90" "1" "94526212" "94526212" "subst" "1.22012E-5" "01695" "ABCA4_000075" "g.94526212G>A" "" "{PMID:Chen 2019:31015497}" "" "p.R681*" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94060656G>A" "" "pathogenic (recessive)" ""
"0000772078" "0" "90" "1" "94544895" "94544895" "subst" "1.62455E-5" "01695" "ABCA4_000329" "g.94544895G>A" "" "{PMID:Chen 2019:31015497}" "" "p.R408*" "" "Unknown" "" "" "0" "" "" "g.94079339G>A" "" "pathogenic (recessive)" ""
"0000772079" "0" "90" "1" "94495009" "94495009" "del" "0" "01695" "ABCA4_000534" "g.94495009del" "" "{PMID:Chen 2019:31015497}" "" "c.4537delC" "" "Unknown" "" "" "0" "" "" "g.94029453del" "" "pathogenic (recessive)" ""
"0000772080" "0" "70" "1" "94528265" "94528265" "subst" "2.44212E-5" "01695" "ABCA4_000284" "g.94528265C>T" "" "{PMID:Chen 2019:31015497}" "" "p.R602Q" "" "Unknown" "" "" "0" "" "" "g.94062709C>T" "" "likely pathogenic (recessive)" ""
"0000772081" "0" "90" "1" "94512500" "94512500" "subst" "0" "01695" "ABCA4_000685" "g.94512500T>A" "" "{PMID:Chen 2019:31015497}" "" "p.N965Y" "" "Unknown" "" "" "0" "" "" "g.94046944T>A" "" "pathogenic (recessive)" ""
"0000772082" "0" "90" "1" "94526296" "94526296" "subst" "1.64555E-5" "01695" "ABCA4_000768" "g.94526296G>A" "" "{PMID:Chen 2019:31015497}" "" "p.R653C" "" "Unknown" "" "" "0" "" "" "g.94060740G>A" "" "pathogenic (recessive)" ""
"0000772083" "1" "70" "1" "94546283" "94546283" "subst" "8.18311E-5" "01695" "ABCA4_000356" "g.94546283A>G" "" "{PMID:Chen 2019:31015497}" "" "c.[859-9T>C;66G>A]" "" "Unknown" "" "" "0" "" "" "g.94080727A>G" "" "likely pathogenic (recessive)" ""
"0000772084" "0" "70" "1" "94508358" "94508358" "subst" "4.06167E-6" "01695" "ABCA4_000636" "g.94508358G>A" "" "{PMID:Sung 2020:33261146}" "" "c.3287C>T" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94042802G>A" "" "likely pathogenic (recessive)" ""
"0000772085" "21" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Sung 2020:33261146}" "" "c.[1804C>T] (mat)" "" "Unknown" "yes" "" "0" "" "" "g.94062710G>A" "" "pathogenic (recessive)" ""
"0000772086" "11" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Sung 2020:33261146}" "" "c.[1804C>T]" "" "Unknown" "yes" "" "0" "" "" "g.94062710G>A" "" "pathogenic (recessive)" ""
"0000772087" "11" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Sung 2020:33261146}" "" "c.[1804C>T] pat" "" "Unknown" "yes" "" "0" "" "" "g.94062710G>A" "" "pathogenic (recessive)" ""
"0000772088" "0" "50" "1" "94474381" "94474381" "subst" "1.21849E-5" "01695" "ABCA4_000410" "g.94474381C>T" "" "{PMID:Sung 2020:33261146}" "" "c.5761G>A" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94008825C>T" "" "VUS" ""
"0000772089" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Sung 2020:33261146}" "" "c.1804C>T" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94062710G>A" "" "pathogenic (recessive)" ""
"0000772090" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Sung 2020:33261146}" "" "c.1804C>T" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94062710G>A" "" "pathogenic (recessive)" ""
"0000772091" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Sung 2020:33261146}" "" "c.1804C>T" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94062710G>A" "" "pathogenic (recessive)" ""
"0000772092" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Sung 2020:33261146}" "" "c.1804C>T" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94062710G>A" "" "pathogenic (recessive)" ""
"0000772093" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Sung 2020:33261146}" "" "c.1804C>T" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94062710G>A" "" "pathogenic (recessive)" ""
"0000772094" "0" "90" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Sung 2020:33261146}" "" "c.2894A>G" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94046943T>C" "" "pathogenic (recessive)" ""
"0000772095" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Sung 2020:33261146}" "" "c.1804C>T" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94062710G>A" "" "pathogenic (recessive)" ""
"0000772096" "0" "70" "1" "94495035" "94495035" "subst" "0" "01695" "ABCA4_001806" "g.94495035C>T" "" "{PMID:Sung 2020:33261146}" "" "c.4505G>A" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94029479C>T" "" "likely pathogenic (recessive)" ""
"0000772097" "0" "70" "1" "94578618" "94578618" "subst" "0.000166918" "01695" "ABCA4_000252" "g.94578618C>T" "" "{PMID:Sung 2020:33261146}" "" "c.71G>A" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94113062C>T" "" "likely pathogenic (recessive)" ""
"0000772098" "0" "50" "1" "94578589" "94578594" "del" "0" "01695" "ABCA4_000249" "g.94578589_94578594del" "" "{PMID:Sung 2020:33261146}" "" "c.101_106del" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94113033_94113038del" "" "VUS" ""
"0000772099" "0" "70" "1" "94471031" "94471031" "subst" "2.43825E-5" "01695" "ABCA4_001620" "g.94471031C>T" "" "{PMID:Sung 2020:33261146}" "" "c.6113G>A" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94005475C>T" "" "likely pathogenic (recessive)" ""
"0000772100" "0" "90" "1" "94548906" "94548906" "subst" "0" "01695" "ABCA4_000358" "g.94548906A>T" "" "{PMID:Sung 2020:33261146}" "" "c.858+2T>A" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94083350A>T" "" "pathogenic (recessive)" ""
"0000772101" "0" "70" "1" "94480124" "94480124" "subst" "1.21824E-5" "01695" "ABCA4_001692" "g.94480124A>T" "" "{PMID:Sung 2020:33261146}" "" "c.5435T>A" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94014568A>T" "" "likely pathogenic (recessive)" ""
"0000772102" "0" "90" "1" "94528868" "94528868" "del" "0" "01695" "ABCA4_000304" "g.94528868del" "" "{PMID:Sung 2020:33261146}" "" "c.1561del" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94063312del" "" "pathogenic (recessive)" ""
"0000772103" "0" "70" "1" "94543269" "94543269" "subst" "0.000179087" "01695" "ABCA4_000307" "g.94543269G>A" "" "{PMID:Sung 2020:33261146}" "" "c.1531C>T" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94077713G>A" "" "likely pathogenic (recessive)" ""
"0000772104" "0" "90" "1" "94520830" "94520830" "subst" "0" "01695" "ABCA4_000727" "g.94520830G>C" "" "{PMID:Sung 2020:33261146}" "" "c.2424C>G" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94055274G>C" "" "pathogenic (recessive)" ""
"0000772105" "0" "90" "1" "94520830" "94520830" "subst" "0" "01695" "ABCA4_000727" "g.94520830G>C" "" "{PMID:Sung 2020:33261146}" "" "c.2424C>G" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94055274G>C" "" "pathogenic (recessive)" ""
"0000772106" "3" "90" "1" "94466391" "94466391" "subst" "0" "01695" "ABCA4_000813" "g.94466391C>G" "" "{PMID:Sung 2020:33261146}" "" "c.[6479+1G>C]" "" "Unknown" "yes" "" "0" "" "" "g.94000835C>G" "" "pathogenic (recessive)" ""
"0000772107" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Sung 2020:33261146}" "" "c.1804C>T" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94062710G>A" "" "pathogenic (recessive)" ""
"0000772108" "0" "90" "1" "94574175" "94574175" "subst" "0" "01695" "ABCA4_000214" "g.94574175G>A" "" "{PMID:Sung 2020:33261146}" "" "c.400C>T" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94108619G>A" "" "pathogenic (recessive)" ""
"0000772109" "0" "70" "1" "94506961" "94506961" "subst" "0" "01695" "ABCA4_001913" "g.94506961G>C" "" "{PMID:Sung 2020:33261146}" "" "c.3329-3C>G" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94041405G>C" "" "likely pathogenic (recessive)" ""
"0000772110" "0" "90" "1" "94490589" "94490589" "del" "0" "01695" "ABCA4_000526" "g.94490589del" "" "{PMID:Sung 2020:33261146}" "" "c.4555del" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94025033del" "" "pathogenic (recessive)" ""
"0000772111" "0" "50" "1" "94578589" "94578594" "del" "0" "01695" "ABCA4_000249" "g.94578589_94578594del" "" "{PMID:Sung 2020:33261146}" "" "c.101_106del" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94113033_94113038del" "" "VUS" ""
"0000772112" "0" "50" "1" "94578589" "94578594" "del" "0" "01695" "ABCA4_000249" "g.94578589_94578594del" "" "{PMID:Sung 2020:33261146}" "" "c.101_106del" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94113033_94113038del" "" "VUS" ""
"0000772113" "0" "70" "1" "94497392" "94497392" "subst" "0" "01695" "ABCA4_000576" "g.94497392G>T" "" "{PMID:Sung 2020:33261146}" "" "c.4070C>A" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94031836G>T" "" "likely pathogenic (recessive)" ""
"0000772114" "0" "90" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Sung 2020:33261146}" "" "c.2894A>G" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94046943T>C" "" "pathogenic (recessive)" ""
"0000772115" "0" "70" "1" "94512566" "94512566" "subst" "7.31149E-5" "01695" "ABCA4_000693" "g.94512566G>A" "" "{PMID:Sung 2020:33261146}" "" "c.2827C>T" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94047010G>A" "" "likely pathogenic (recessive)" ""
"0000772116" "0" "90" "1" "94485137" "94485137" "subst" "0" "01695" "ABCA4_000464" "g.94485137C>T" "" "{PMID:Sung 2020:33261146}" "" "c.5196+1G>A" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94019581C>T" "" "pathogenic (recessive)" ""
"0000772117" "0" "90" "1" "94528132" "94528132" "subst" "4.06835E-6" "01695" "ABCA4_000773" "g.94528132C>T" "" "{PMID:Sung 2020:33261146}" "" "c.1937+1G>A" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94062576C>T" "" "pathogenic (recessive)" ""
"0000772118" "0" "90" "1" "94586599" "94586599" "subst" "0" "01695" "ABCA4_000261" "g.94586599C>T" "" "{PMID:Sung 2020:33261146}" "" "c.3G>A" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94121043C>T" "" "pathogenic (recessive)" ""
"0000772119" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Sung 2020:33261146}" "" "c.1804C>T" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94062710G>A" "" "pathogenic (recessive)" ""
"0000772120" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Sung 2020:33261146}" "" "c.1804C>T" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94062710G>A" "" "pathogenic (recessive)" ""
"0000772121" "0" "90" "1" "94496060" "94496060" "subst" "0" "01695" "ABCA4_001831" "g.94496060G>A" "" "{PMID:Sun 2020:33301772}" "" "c.4276C>T p.(Gln1426*)" "" "Unknown" "" "" "0" "" "" "g.94030504G>A" "" "pathogenic (recessive)" ""
"0000772122" "0" "90" "1" "94520830" "94520830" "subst" "0" "01695" "ABCA4_000727" "g.94520830G>C" "" "{PMID:Sun 2020:33301772}" "" "c.2424C>G p.(Tyr808*)" "" "Unknown" "" "" "0" "" "" "g.94055274G>C" "" "pathogenic (recessive)" ""
"0000772123" "3" "90" "1" "94495153" "94495153" "del" "0" "01695" "ABCA4_001376" "g.94495153del" "" "{PMID:Sun 2020:33301772}" "" "c.4387delA p.(Thr1463Leufs*63)" "" "Unknown" "" "" "0" "" "" "g.94029597del" "" "pathogenic (recessive)" ""
"0000772124" "0" "90" "1" "94485137" "94485137" "subst" "0" "01695" "ABCA4_000464" "g.94485137C>T" "" "{PMID:Sun 2020:33301772}" "" "c.5196+1G>A p.(?)" "" "Unknown" "" "" "0" "" "" "g.94019581C>T" "" "pathogenic (recessive)" ""
"0000772125" "0" "90" "1" "94546098" "94546098" "subst" "0" "01695" "ABCA4_000338" "g.94546098A>C" "" "{PMID:Sun 2020:33301772}" "" "c.1035T>G p.(Tyr345*)" "" "Unknown" "" "" "0" "" "" "g.94080542A>C" "" "pathogenic (recessive)" ""
"0000772126" "11" "50" "1" "94578589" "94578594" "del" "0" "01695" "ABCA4_000249" "g.94578589_94578594del" "" "{PMID:Sun 2020:33301772}" "" "c.101_106del p.(Ser34_Leu35del)" "" "Unknown" "" "" "0" "" "" "g.94113033_94113038del" "" "VUS" ""
"0000772127" "0" "90" "1" "94546098" "94546098" "subst" "0" "01695" "ABCA4_000338" "g.94546098A>C" "" "{PMID:Sun 2020:33301772}" "" "c.1035T>G p.(Tyr345*)" "" "Unknown" "" "" "0" "" "" "g.94080542A>C" "" "pathogenic (recessive)" ""
"0000772128" "0" "70" "1" "94490534" "94490534" "subst" "0.000125895" "01695" "ABCA4_000520" "g.94490534G>A" "" "{PMID:Sun 2020:33301772}" "" "c.4610C>T p.(Thr1537Met)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94024978G>A" "" "likely pathogenic (recessive)" ""
"0000772129" "21" "70" "1" "94510271" "94510271" "subst" "0" "01695" "ABCA4_000670" "g.94510271G>A" "" "{PMID:Sun 2020:33301772}" "" "c.2948C>T p.(Thr983Ile)" "" "Unknown" "" "" "0" "" "" "g.94044715G>A" "" "likely pathogenic (recessive)" ""
"0000772130" "0" "70" "1" "94528178" "94528178" "subst" "4.06666E-6" "01695" "ABCA4_001312" "g.94528178C>A" "" "{PMID:Sun 2020:33301772}" "" "c.1892G>T p.(Gly631Val)" "" "Unknown" "" "" "0" "" "" "g.94062622C>A" "" "likely pathogenic (recessive)" ""
"0000772131" "0" "90" "1" "94471056" "94471056" "subst" "2.84398E-5" "01695" "ABCA4_000050" "g.94471056G>A" "" "{PMID:Sun 2020:33301772}" "" "c.6088C>T p.(Arg2030*)" "" "Unknown" "" "" "0" "" "" "g.94005500G>A" "" "pathogenic (recessive)" ""
"0000772132" "3" "90" "1" "94528868" "94528868" "del" "0" "01695" "ABCA4_000304" "g.94528868del" "" "{PMID:Sun 2020:33301772}" "" "c.1561delG p.(Val521Serfs*47)" "" "Unknown" "" "" "0" "" "" "g.94063312del" "" "pathogenic (recessive)" ""
"0000772133" "0" "90" "1" "94512644" "94512644" "del" "0" "01695" "ABCA4_001991" "g.94512644del" "" "{PMID:Sun 2020:33301772}" "" "c.2750delT p.(Phe917Serfs*15)" "" "Unknown" "" "" "0" "" "" "g.94047088del" "" "pathogenic (recessive)" ""
"0000772134" "0" "90" "1" "94568687" "94568687" "subst" "1.62641E-5" "01695" "ABCA4_000024" "g.94568687G>A" "" "{PMID:Sun 2020:33301772}" "" "c.454C>T p.(Arg152*)" "" "Unknown" "" "" "0" "" "" "g.94103131G>A" "" "pathogenic (recessive)" ""
"0000772135" "0" "70" "1" "94486819" "94486819" "subst" "0" "01695" "ABCA4_001368" "g.94486819C>A" "" "{PMID:Sun 2020:33301772}" "" "c.4995G>T p.(Lys1665Asn)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94021263C>A" "" "likely pathogenic (recessive)" ""
"0000772136" "20" "90" "1" "94544895" "94544895" "subst" "1.62455E-5" "01695" "ABCA4_000329" "g.94544895G>A" "" "{PMID:Sun 2020:33301772}" "" "c.1222C>T p.(Arg408*)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94079339G>A" "" "pathogenic (recessive)" ""
"0000772137" "0" "70" "1" "94510303" "94510304" "ins" "0" "01695" "ABCA4_001304" "g.94510303_94510304insTGTTTGGACCTG" "" "{PMID:Sun 2020:33301772}" "" "c.2923_2924insAACACAGGTCCA p.(Ile975delinsLysHisArgSerIle)" "" "Unknown" "" "" "0" "" "" "g.94044747_94044748insTGTTTGGACCTG" "" "likely pathogenic (recessive)" ""
"0000772138" "0" "90" "1" "94526194" "94526194" "dup" "0" "01695" "ABCA4_001308" "g.94526194dup" "" "{PMID:Sun 2020:33301772}" "" "c.2063dupA p.(Asn688Lysfs*78)" "" "Unknown" "" "" "0" "" "" "g.94060638dup" "" "pathogenic (recessive)" ""
"0000772139" "0" "50" "1" "94508451" "94508451" "subst" "0" "01695" "ABCA4_000648" "g.94508451C>A" "" "{PMID:Sun 2020:33301772}" "" "c.3194G>T p.(Gly1065Val)" "" "Unknown" "" "" "0" "" "" "g.94042895C>A" "" "VUS" ""
"0000772140" "0" "90" "1" "94467515" "94467518" "del" "0" "01695" "ABCA4_001380" "g.94467515_94467518del" "" "{PMID:Sun 2020:33301772}" "" "c.6181_6184del p.(Thr2061Serfs*53)" "" "Unknown" "" "" "0" "" "" "g.94001959_94001962del" "" "pathogenic (recessive)" ""
"0000772141" "0" "70" "1" "94526221" "94526223" "del" "0" "01695" "ABCA4_001374" "g.94526221_94526223del" "" "{PMID:Sun 2020:33301772}" "" "c.2032_2034del p.(678delArg)" "" "Unknown" "" "" "0" "" "" "g.94060665_94060667del" "" "likely pathogenic (recessive)" ""
"0000772142" "0" "90" "1" "94520830" "94520830" "subst" "0" "01695" "ABCA4_000727" "g.94520830G>C" "" "{PMID:Sun 2020:33301772}" "" "c.2424C>G p.(Tyr808*)" "" "Unknown" "" "" "0" "" "" "g.94055274G>C" "" "pathogenic (recessive)" ""
"0000772143" "0" "90" "1" "94544957" "94544957" "subst" "0" "01695" "ABCA4_001363" "g.94544957C>T" "" "{PMID:Sun 2020:33301772}" "" "c.1160G>A p.(Trp387*)" "" "Unknown" "" "" "0" "" "" "g.94079401C>T" "" "pathogenic (recessive)" ""
"0000772144" "0" "90" "1" "94544895" "94544895" "subst" "1.62455E-5" "01695" "ABCA4_000329" "g.94544895G>A" "" "{PMID:Sun 2020:33301772}" "" "c.1222C>T p.(Arg408*)" "" "Unknown" "" "" "0" "" "" "g.94079339G>A" "" "pathogenic (recessive)" ""
"0000772145" "0" "70" "1" "94546150" "94546150" "subst" "4.06828E-6" "01695" "ABCA4_000346" "g.94546150T>A" "" "{PMID:Sun 2020:33301772}" "" "c.983A>T p.(Glu328Val)" "" "Unknown" "" "" "0" "" "" "g.94080594T>A" "" "likely pathogenic (recessive)" ""
"0000772146" "0" "50" "1" "94578589" "94578594" "del" "0" "01695" "ABCA4_000249" "g.94578589_94578594del" "" "{PMID:Sun 2020:33301772}" "" "c.101_106del p.(Ser34_Leu35del)" "" "Unknown" "" "" "0" "" "" "g.94113033_94113038del" "" "VUS" ""
"0000772147" "0" "90" "1" "94471056" "94471056" "subst" "2.84398E-5" "01695" "ABCA4_000050" "g.94471056G>A" "" "{PMID:Sun 2020:33301772}" "" "c.6088C>T p.(Arg2030*)" "" "Unknown" "" "" "0" "" "" "g.94005500G>A" "" "pathogenic (recessive)" ""
"0000772148" "0" "90" "1" "94544895" "94544895" "subst" "1.62455E-5" "01695" "ABCA4_000329" "g.94544895G>A" "" "{PMID:Sun 2020:33301772}" "" "c.1222C>T p.(Arg408*)" "" "Unknown" "" "" "0" "" "" "g.94079339G>A" "" "pathogenic (recessive)" ""
"0000772149" "3" "70" "1" "94508379" "94508379" "subst" "0" "01695" "ABCA4_000640" "g.94508379G>A" "" "{PMID:Sun 2020:33301772}" "" "c.3266C>T p.(Thr1089Ile)" "" "Unknown" "" "" "0" "" "" "g.94042823G>A" "" "likely pathogenic (recessive)" ""
"0000772150" "0" "90" "1" "94495103" "94495103" "subst" "0" "01695" "ABCA4_001813" "g.94495103C>T" "" "{PMID:Sun 2020:33301772}" "" "c.4437G>A p.(Trp1479*)" "" "Unknown" "" "" "0" "" "" "g.94029547C>T" "" "pathogenic (recessive)" ""
"0000772151" "0" "90" "1" "94520830" "94520830" "subst" "0" "01695" "ABCA4_000727" "g.94520830G>C" "" "{PMID:Sun 2020:33301772}" "" "c.2424C>G p.(Tyr808*)" "" "Unknown" "" "" "0" "" "" "g.94055274G>C" "" "pathogenic (recessive)" ""
"0000772152" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Sun 2020:33301772}" "" "c.1804C>T p.(Arg602Trp)" "" "Unknown" "" "" "0" "" "" "g.94062710G>A" "" "pathogenic (recessive)" ""
"0000772153" "20" "90" "1" "94490538" "94490539" "ins" "0" "01695" "ABCA4_000521" "g.94490538_94490539insA" "" "{PMID:Sun 2020:33301772}" "" "c.4605_4606insT p.(Lys1536*)" "" "Unknown" "" "" "0" "" "" "g.94024982_94024983insA" "" "pathogenic (recessive)" ""
"0000772154" "0" "50" "1" "94578589" "94578594" "del" "0" "01695" "ABCA4_000249" "g.94578589_94578594del" "" "{PMID:Sun 2020:33301772}" "" "c.101_106del p.(Ser34_Leu35del)" "" "Unknown" "" "" "0" "" "" "g.94113033_94113038del" "" "VUS" ""
"0000772155" "0" "70" "1" "94471019" "94471019" "subst" "0" "01695" "ABCA4_001369" "g.94471019A>C" "" "{PMID:Sun 2020:33301772}" "" "c.6125T>G p.(Val2042Gly)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94005463A>C" "" "likely pathogenic (recessive)" ""
"0000772156" "3" "70" "1" "94480241" "94480241" "subst" "7.71705E-5" "01695" "ABCA4_000446" "g.94480241G>A" "" "{PMID:Sun 2020:33301772}" "" "c.5318C>T p.(Ala1773Val)" "" "Unknown" "" "" "0" "" "" "g.94014685G>A" "" "likely pathogenic (recessive)" ""
"0000772157" "0" "90" "1" "94568687" "94568687" "subst" "1.62641E-5" "01695" "ABCA4_000024" "g.94568687G>A" "" "{PMID:Sun 2020:33301772}" "" "c.454C>T p.(Arg152*)" "" "Unknown" "" "" "0" "" "" "g.94103131G>A" "" "pathogenic (recessive)" ""
"0000772158" "0" "70" "1" "94512566" "94512566" "subst" "7.31149E-5" "01695" "ABCA4_000693" "g.94512566G>A" "" "{PMID:Sun 2020:33301772}" "" "c.2827C>T p.(Arg943Trp)" "" "Unknown" "" "" "0" "" "" "g.94047010G>A" "" "likely pathogenic (recessive)" ""
"0000772159" "3" "90" "1" "94528251" "94528251" "subst" "2.84824E-5" "01695" "ABCA4_000281" "g.94528251C>T" "" "{PMID:Sun 2020:33301772}" "" "c.1819G>A p.(Gly607Arg)" "" "Unknown" "" "" "0" "" "" "g.94062695C>T" "" "pathogenic (recessive)" ""
"0000772160" "3" "70" "1" "94473266" "94473266" "subst" "8.14677E-6" "01695" "ABCA4_000389" "g.94473266C>T" "" "{PMID:Sun 2020:33301772}" "" "c.[5929G>A;1294G>A] p.[Gly1977Ser;Glu432Lys]" "" "Unknown" "" "" "0" "" "" "g.94007710C>T" "" "likely pathogenic (recessive)" ""
"0000772161" "20" "90" "1" "94497591" "94497591" "subst" "0" "01695" "ABCA4_000587" "g.94497591G>A" "" "{PMID:Sun 2020:33301772}" "" "c.3871C>T p.(Gln1291*)" "" "Unknown" "" "" "0" "" "" "g.94032035G>A" "" "pathogenic (recessive)" ""
"0000772162" "0" "90" "1" "94485316" "94485316" "subst" "0" "01695" "ABCA4_001736" "g.94485316C>T" "" "{PMID:Sun 2020:33301772}" "" "c.5019-1G>A p.(?)" "" "Unknown" "" "" "0" "" "" "g.94019760C>T" "" "pathogenic (recessive)" ""
"0000772163" "0" "90" "1" "94486961" "94486961" "subst" "0" "01695" "ABCA4_001286" "g.94486961C>T" "" "{PMID:Sun 2020:33301772}" "" "c.4853G>A p.(Trp1618*)" "" "Unknown" "" "" "0" "" "" "g.94021405C>T" "" "pathogenic (recessive)" ""
"0000772164" "0" "70" "1" "94512485" "94512485" "subst" "0" "01695" "ABCA4_001370" "g.94512485T>C" "" "{PMID:Sun 2020:33301772}" "" "c.2908A>G p.(Thr970Ala)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94046929T>C" "" "likely pathogenic (recessive)" ""
"0000772165" "0" "70" "1" "94520718" "94520718" "subst" "0" "01695" "ABCA4_002020" "g.94520718C>T" "" "{PMID:Sun 2020:33301772}" "" "c.2536G>A p.(Asp846Asn)" "" "Unknown" "" "" "0" "" "" "g.94055162C>T" "" "likely pathogenic (recessive)" ""
"0000772166" "0" "90" "1" "94528714" "94528714" "subst" "0" "01695" "ABCA4_000296" "g.94528714G>A" "" "{PMID:Sun 2020:33301772}" "" "c.1714C>T p.(Arg572*)" "" "Unknown" "" "" "0" "" "" "g.94063158G>A" "" "pathogenic (recessive)" ""
"0000772167" "0" "90" "1" "94485137" "94485137" "subst" "0" "01695" "ABCA4_000464" "g.94485137C>T" "" "{PMID:Sun 2020:33301772}" "" "c.5196+1G>A p.(?)" "" "Unknown" "" "" "0" "" "" "g.94019581C>T" "" "pathogenic (recessive)" ""
"0000772168" "0" "90" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Sun 2020:33301772}" "" "c.2894A>G p.(Asn965Ser)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94046943T>C" "" "pathogenic (recessive)" ""
"0000772169" "0" "70" "1" "94496547" "94496547" "subst" "1.21904E-5" "01695" "ABCA4_000560" "g.94496547C>T" "" "{PMID:Sun 2020:33301772}" "" "c.4253+5G>A p.(Ile1377Hisfs?3)" "" "Unknown" "" "" "0" "" "" "g.94030991C>T" "" "likely pathogenic (recessive)" ""
"0000772170" "0" "70" "1" "94578618" "94578618" "subst" "0.000166918" "01695" "ABCA4_000252" "g.94578618C>T" "" "{PMID:Sun 2020:33301772}" "" "c.71G>A p.(Arg24His)" "" "Unknown" "" "" "0" "" "" "g.94113062C>T" "" "likely pathogenic (recessive)" ""
"0000772171" "0" "90" "1" "94528749" "94528749" "del" "0" "01695" "ABCA4_002092" "g.94528749del" "" "{PMID:Sun 2020:33301772}" "" "c.1680delC p.(Ser561Alafs*7)" "" "Unknown" "" "" "0" "" "" "g.94063193del" "" "pathogenic (recessive)" ""
"0000772172" "0" "90" "1" "94520830" "94520830" "subst" "0" "01695" "ABCA4_000727" "g.94520830G>C" "" "{PMID:Sun 2020:33301772}" "" "c.2424C>G p.(Tyr808*)" "" "Unknown" "" "" "0" "" "" "g.94055274G>C" "" "pathogenic (recessive)" ""
"0000772173" "3" "90" "1" "94528868" "94528868" "del" "0" "01695" "ABCA4_000304" "g.94528868del" "" "{PMID:Sun 2020:33301772}" "" "c.1561delG p.(Val521Serfs*47)" "" "Unknown" "" "" "0" "" "" "g.94063312del" "" "pathogenic (recessive)" ""
"0000772174" "0" "90" "1" "94546127" "94546127" "del" "0" "01695" "ABCA4_001320" "g.94546127del" "" "{PMID:Sun 2020:33301772}" "" "c.1006delT p.(Ser336Profs*38)" "" "Unknown" "" "" "0" "" "" "g.94080571del" "" "pathogenic (recessive)" ""
"0000772175" "0" "70" "1" "94505659" "94505659" "subst" "0.000942724" "01695" "ABCA4_000921" "g.94505659C>A" "" "{PMID:Sun 2020:33301772}" "" "c.3547G>T p.(Gly1183Cys)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94040103C>A" "" "likely pathogenic (recessive)" ""
"0000772176" "0" "90" "1" "94528868" "94528868" "del" "0" "01695" "ABCA4_000304" "g.94528868del" "" "{PMID:Sun 2020:33301772}" "" "c.1561delG p.(Val521Serfs*47)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94063312del" "" "pathogenic (recessive)" ""
"0000772177" "0" "50" "1" "94578589" "94578594" "del" "0" "01695" "ABCA4_000249" "g.94578589_94578594del" "" "{PMID:Sun 2020:33301772}" "" "c.101_106del p.(Ser34_Leu35del)" "" "Unknown" "" "" "0" "" "" "g.94113033_94113038del" "" "VUS" ""
"0000772178" "0" "90" "1" "94497591" "94497591" "subst" "0" "01695" "ABCA4_000587" "g.94497591G>A" "" "{PMID:Sun 2020:33301772}" "" "c.3871C>T p.(Gln1291*)" "" "Unknown" "" "" "0" "" "" "g.94032035G>A" "" "pathogenic (recessive)" ""
"0000772179" "0" "90" "1" "94520830" "94520830" "subst" "0" "01695" "ABCA4_000727" "g.94520830G>C" "" "{PMID:Sun 2020:33301772}" "" "c.2424C>G p.(Tyr808*)" "" "Unknown" "" "" "0" "" "" "g.94055274G>C" "" "pathogenic (recessive)" ""
"0000772180" "0" "90" "1" "94543304" "94543304" "subst" "0" "01695" "ABCA4_001476" "g.94543304C>T" "" "{PMID:Sun 2020:33301772}" "" "c.1496G>A p.(Trp499*)" "" "Unknown" "" "" "0" "" "" "g.94077748C>T" "" "pathogenic (recessive)" ""
"0000772181" "0" "70" "1" "94476425" "94476425" "subst" "8.12282E-6" "01695" "ABCA4_000419" "g.94476425A>G" "" "{PMID:Sun 2020:33301772}" "" "c.5645T>C p.(Met1882Thr)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94010869A>G" "" "likely pathogenic (recessive)" ""
"0000772182" "0" "90" "1" "94520830" "94520830" "subst" "0" "01695" "ABCA4_000727" "g.94520830G>C" "" "{PMID:Sun 2020:33301772}" "" "c.2424C>G p.(Tyr808*)" "" "Unknown" "" "" "0" "" "" "g.94055274G>C" "" "pathogenic (recessive)" ""
"0000772183" "0" "90" "1" "94548998" "94548998" "subst" "0" "01695" "ABCA4_001362" "g.94548998C>T" "" "{PMID:Sun 2020:33301772}" "" "c.769-1G>A p.(?)" "" "Unknown" "" "" "0" "" "" "g.94083442C>T" "" "pathogenic (recessive)" ""
"0000772184" "0" "90" "1" "94485137" "94485137" "subst" "0" "01695" "ABCA4_000464" "g.94485137C>T" "" "{PMID:Sun 2020:33301772}" "" "c.5196+1G>A p.(?)" "" "Unknown" "" "" "0" "" "" "g.94019581C>T" "" "pathogenic (recessive)" ""
"0000772185" "3" "70" "1" "94522257" "94522257" "subst" "0" "01695" "ABCA4_001382" "g.94522257G>A" "" "{PMID:Sun 2020:33301772}" "" "c.2282C>T p.(Ala761Val)" "" "Unknown" "" "" "0" "" "" "g.94056701G>A" "" "likely pathogenic (recessive)" ""
"0000772186" "0" "70" "1" "94520717" "94520717" "subst" "0" "01695" "ABCA4_001367" "g.94520717T>A" "" "{PMID:Sun 2020:33301772}" "" "c.2537C>T p.(Asp846Val)" "" "Unknown" "" "" "0" "" "" "g.94055161T>A" "" "likely pathogenic (recessive)" ""
"0000772187" "0" "90" "1" "94528311" "94528311" "subst" "0" "01695" "ABCA4_001138" "g.94528311T>C" "" "{PMID:Sun 2020:33301772}" "" "c.1761-2A>G p.(?)" "" "Unknown" "" "" "0" "" "" "g.94062755T>C" "" "pathogenic (recessive)" ""
"0000772188" "3" "90" "1" "94486866" "94486866" "subst" "0" "01695" "ABCA4_001364" "g.94486866C>A" "" "{PMID:Sun 2020:33301772}" "" "c.4948G>T p.(Glu1650*)" "" "Unknown" "" "" "0" "" "" "g.94021310C>A" "" "pathogenic (recessive)" ""
"0000772189" "0" "90" "1" "94546127" "94546127" "del" "0" "01695" "ABCA4_001320" "g.94546127del" "" "{PMID:Sun 2020:33301772}" "" "c.1006delT p.(Ser336Profs*38)" "" "Unknown" "" "" "0" "" "" "g.94080571del" "" "pathogenic (recessive)" ""
"0000772190" "0" "90" "1" "94568636" "94568636" "subst" "0" "01695" "ABCA4_001365" "g.94568636T>A" "" "{PMID:Sun 2020:33301772}" "" "c.505A>T p.(Lys169*)" "" "Unknown" "" "" "0" "" "" "g.94103080T>A" "" "pathogenic (recessive)" ""
"0000772191" "0" "70" "1" "94543269" "94543269" "subst" "0.000179087" "01695" "ABCA4_000307" "g.94543269G>A" "" "{PMID:Sun 2020:33301772}" "" "c.1531C>T p.(Arg511Cys)" "" "Unknown" "" "" "0" "" "" "g.94077713G>A" "" "likely pathogenic (recessive)" ""
"0000772192" "1" "70" "1" "94528819" "94528819" "subst" "2.03128E-5" "01695" "ABCA4_000078" "g.94528819G>A" "" "{PMID:Sun 2020:33301772}" "" "c.[1609C>T;5881G>A] p.[Arg537Cys;Gly1961Arg]" "" "Unknown" "" "" "0" "" "" "g.94063263G>A" "" "likely pathogenic (recessive)" ""
"0000772193" "0" "70" "1" "94578619" "94578619" "subst" "2.85088E-5" "01695" "ABCA4_000253" "g.94578619G>A" "" "{PMID:Sun 2020:33301772}" "" "c.70C>T p.(Arg24Cys)" "" "Unknown" "" "" "0" "" "" "g.94113063G>A" "" "likely pathogenic (recessive)" ""
"0000772194" "0" "70" "1" "94470988" "94470988" "subst" "4.46951E-5" "01695" "ABCA4_001613" "g.94470988A>T" "" "{PMID:Sun 2020:33301772}" "" "c.6147+9T>A p.(?)" "" "Unknown" "" "" "0" "" "" "g.94005432A>T" "" "likely pathogenic (recessive)" ""
"0000772195" "0" "90" "1" "94544184" "94544184" "del" "0" "01695" "ABCA4_001381" "g.94544184del" "" "{PMID:Sun 2020:33301772}" "" "c.1318delT p.(Tyr440Thrfs*9)" "" "Unknown" "" "" "0" "" "" "g.94078628del" "" "pathogenic (recessive)" ""
"0000772196" "0" "90" "1" "94502702" "94502702" "del" "0" "01695" "ABCA4_000596" "g.94502702del" "" "{PMID:Sun 2020:33301772}" "" "c.3812delA p.(Glu1271Glyfs*4)" "" "Unknown" "" "" "0" "" "" "g.94037146del" "" "pathogenic (recessive)" ""
"0000772197" "0" "90" "1" "94474366" "94474366" "subst" "0" "01695" "ABCA4_000408" "g.94474366G>A" "" "{PMID:Sun 2020:33301772}" "" "c.5776C>T p.(Gln1926*)" "" "Unknown" "" "" "0" "" "" "g.94008810G>A" "" "pathogenic (recessive)" ""
"0000772198" "0" "90" "1" "94546248" "94546248" "del" "2.03666E-5" "01695" "ABCA4_000352" "g.94546248del" "" "{PMID:Sun 2020:33301772}" "" "c.885delC p.(Leu296Cysfs*4)" "" "Unknown" "" "" "0" "" "" "g.94080692del" "" "pathogenic (recessive)" ""
"0000772199" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Sun 2020:33301772}" "" "c.1804C>T p.(Arg602Trp)" "" "Unknown" "" "" "0" "" "" "g.94062710G>A" "" "pathogenic (recessive)" ""
"0000772200" "0" "90" "1" "94520661" "94520667" "del" "0" "01695" "ABCA4_002010" "g.94520661_94520667del" "" "{PMID:Sun 2020:33301772}" "" "c.2587_2587+6delGGTAAGC p.(?)" "" "Unknown" "" "" "0" "" "" "g.94055105_94055111del" "" "pathogenic (recessive)" ""
"0000772201" "0" "90" "1" "94496018" "94496018" "del" "0" "01695" "ABCA4_000551" "g.94496018del" "" "{PMID:Sun 2020:33301772}" "" "c.4320delT p.(Phe1440Leufs*6)" "" "Unknown" "" "" "0" "" "" "g.94030462del" "" "pathogenic (recessive)" ""
"0000772202" "3" "50" "1" "94578589" "94578594" "del" "0" "01695" "ABCA4_000249" "g.94578589_94578594del" "" "{PMID:Sun 2020:33301772}" "" "c.101_106del p.(Ser34_Leu35del)" "" "Unknown" "" "" "0" "" "" "g.94113033_94113038del" "" "VUS" ""
"0000772203" "0" "90" "1" "94520830" "94520830" "subst" "0" "01695" "ABCA4_000727" "g.94520830G>C" "" "{PMID:Sun 2020:33301772}" "" "c.2424C>G p.(Tyr808*)" "" "Unknown" "" "" "0" "" "" "g.94055274G>C" "" "pathogenic (recessive)" ""
"0000772204" "0" "90" "1" "94528868" "94528868" "del" "0" "01695" "ABCA4_000304" "g.94528868del" "" "{PMID:Sun 2020:33301772}" "" "c.1561delG p.(Val521Serfs*47)" "" "Unknown" "" "" "0" "" "" "g.94063312del" "" "pathogenic (recessive)" ""
"0000772205" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Sun 2020:33301772}" "" "c.1804C>T p.(Arg602Trp)" "" "Unknown" "" "" "0" "" "" "g.94062710G>A" "" "pathogenic (recessive)" ""
"0000772206" "3" "70" "1" "94528178" "94528178" "subst" "4.06666E-6" "01695" "ABCA4_001312" "g.94528178C>A" "" "{PMID:Sun 2020:33301772}" "" "c.1892G>T p.(Gly631Val)" "" "Unknown" "" "" "0" "" "" "g.94062622C>A" "" "likely pathogenic (recessive)" ""
"0000772207" "0" "90" "1" "94493901" "94493901" "subst" "0" "01695" "ABCA4_001288" "g.94493901T>C" "" "{PMID:Sun 2020:33301772}" "" "c.4539+1100A>G p.[Arg1514Valfs*31,Arg1514Glyfs*3,=]" "" "Unknown" "" "" "0" "" "" "g.94028345T>C" "" "pathogenic (recessive)" ""
"0000772208" "0" "90" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Sun 2020:33301772}" "" "c.2894A>G p.(Asn965Ser)" "" "Unknown" "" "" "0" "" "" "g.94046943T>C" "" "pathogenic (recessive)" ""
"0000772209" "0" "70" "1" "94512490" "94512490" "subst" "0" "01695" "ABCA4_001978" "g.94512490C>G" "" "{PMID:Sun 2020:33301772}" "" "c.2903G>C p.(Gly968Ala)" "" "Unknown" "" "" "0" "" "" "g.94046934C>G" "" "likely pathogenic (recessive)" ""
"0000772210" "0" "50" "1" "94467489" "94467489" "subst" "0" "01695" "ABCA4_001603" "g.94467489G>A" "" "{PMID:Sun 2020:33301772}" "" "c.6207C>T p.(Gly2069=,?)" "" "Unknown" "" "" "0" "" "" "g.94001933G>A" "" "VUS" ""
"0000772211" "0" "90" "1" "94568625" "94568625" "del" "0" "01695" "ABCA4_000206" "g.94568625del" "" "{PMID:Sun 2020:33301772}" "" "c.517delC p.(Leu173Cysfs*9)" "" "Unknown" "" "" "0" "" "" "g.94103069del" "" "pathogenic (recessive)" ""
"0000772212" "0" "90" "1" "94528868" "94528868" "del" "0" "01695" "ABCA4_000304" "g.94528868del" "" "{PMID:Sun 2020:33301772}" "" "c.1561delG p.(Val521Serfs*47)" "" "Unknown" "" "" "0" "" "" "g.94063312del" "" "pathogenic (recessive)" ""
"0000772213" "0" "90" "1" "94543419" "94543420" "del" "0" "01695" "ABCA4_001314" "g.94543419_94543420del" "" "{PMID:Sun 2020:33301772}" "" "c.1382_1383delAA p.(Lys461Argfs*5)" "" "Unknown" "" "" "0" "" "" "g.94077863_94077864del" "" "pathogenic (recessive)" ""
"0000772214" "1" "70" "1" "94512532" "94512532" "subst" "0" "01695" "ABCA4_001986" "g.94512532T>C" "" "{PMID:Sun 2020:33301772}" "" "c.[2861A>G; 2845C>G] p.[Tyr954Cys;Leu949Val]" "" "Unknown" "" "" "0" "" "" "g.94046976T>C" "" "likely pathogenic (recessive)" ""
"0000772215" "0" "90" "1" "94471026" "94471026" "subst" "1.21925E-5" "01695" "ABCA4_000791" "g.94471026G>A" "" "{PMID:Sun 2020:33301772}" "" "c.6118C>T p.(Arg2040*)" "" "Unknown" "" "" "0" "" "" "g.94005470G>A" "" "pathogenic (recessive)" ""
"0000772216" "0" "90" "1" "94471026" "94471026" "subst" "1.21925E-5" "01695" "ABCA4_000791" "g.94471026G>A" "" "{PMID:Sun 2020:33301772}" "" "c.6118C>T p.(Arg2040*)" "" "Unknown" "" "" "0" "" "" "g.94005470G>A" "" "pathogenic (recessive)" ""
"0000772217" "0" "70" "1" "94510271" "94510271" "subst" "0" "01695" "ABCA4_000670" "g.94510271G>A" "" "{PMID:Sun 2020:33301772}" "" "c.2948C>T p.(Thr983Ile)" "" "Unknown" "" "" "0" "" "" "g.94044715G>A" "" "likely pathogenic (recessive)" ""
"0000772218" "0" "70" "1" "94510271" "94510271" "subst" "0" "01695" "ABCA4_000670" "g.94510271G>A" "" "{PMID:Sun 2020:33301772}" "" "c.2948C>T p.(Thr983Ile)" "" "Unknown" "" "" "0" "" "" "g.94044715G>A" "" "likely pathogenic (recessive)" ""
"0000772219" "0" "90" "1" "94568687" "94568687" "subst" "1.62641E-5" "01695" "ABCA4_000024" "g.94568687G>A" "" "{PMID:Sun 2020:33301772}" "" "c.454C>T p.(Arg152*)" "" "Unknown" "" "" "0" "" "" "g.94103131G>A" "" "pathogenic (recessive)" ""
"0000772220" "3" "90" "1" "94490538" "94490539" "ins" "0" "01695" "ABCA4_000521" "g.94490538_94490539insA" "" "{PMID:Sun 2020:33301772}" "" "c.4605_4606insT p.(Lys1536*)" "" "Unknown" "" "" "0" "" "" "g.94024982_94024983insA" "" "pathogenic (recessive)" ""
"0000772221" "0" "90" "1" "94546127" "94546127" "del" "0" "01695" "ABCA4_001320" "g.94546127del" "" "{PMID:Sun 2020:33301772}" "" "c.1006delT p.(Ser336Profs*38)" "" "Unknown" "" "" "0" "" "" "g.94080571del" "" "pathogenic (recessive)" ""
"0000772222" "3" "50" "1" "94520817" "94520817" "subst" "0" "01695" "ABCA4_000726" "g.94520817C>T" "" "{PMID:Sun 2020:33301772}" "" "c.2437G>A p.(Glu813Lys)" "" "Unknown" "" "" "0" "" "" "g.94055261C>T" "" "VUS" ""
"0000772223" "0" "70" "1" "94505659" "94505659" "subst" "0.000942724" "01695" "ABCA4_000921" "g.94505659C>A" "" "{PMID:Sun 2020:33301772}" "" "c.3547G>T p.(Gly1183Cys)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94040103C>A" "" "likely pathogenic (recessive)" ""
"0000772224" "3" "90" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Sun 2020:33301772}" "" "c.2894A>G p.(Asn965Ser)" "" "Unknown" "" "" "0" "" "" "g.94046943T>C" "" "pathogenic (recessive)" ""
"0000772225" "0" "90" "1" "94574256" "94574256" "subst" "2.8425E-5" "01695" "ABCA4_000040" "g.94574256G>A" "" "{PMID:Sun 2020:33301772}" "" "c.319C>T p.(Arg107*)" "" "Unknown" "" "" "0" "" "" "g.94108700G>A" "" "pathogenic (recessive)" ""
"0000772226" "3" "70" "1" "94463583" "94463583" "subst" "8.12183E-6" "01695" "ABCA4_000806" "g.94463583A>G" "" "{PMID:Sun 2020:33301772}" "" "c.6563T>C p.(Phe2188Ser)" "" "Unknown" "" "" "0" "" "" "g.93998027A>G" "" "likely pathogenic (recessive)" ""
"0000772227" "0" "90" "1" "94544145" "94544145" "subst" "0" "01695" "ABCA4_002127" "g.94544145C>T" "" "{PMID:Sun 2020:33301772}" "" "c.1356+1G>A p.(?)" "" "Unknown" "" "" "0" "" "" "g.94078589C>T" "" "pathogenic (recessive)" ""
"0000772228" "0" "90" "1" "94546248" "94546248" "del" "2.03666E-5" "01695" "ABCA4_000352" "g.94546248del" "" "{PMID:Sun 2020:33301772}" "" "c.885delC p.(Leu296Cysfs*4)" "" "Unknown" "" "" "0" "" "" "g.94080692del" "" "pathogenic (recessive)" ""
"0000772229" "0" "90" "1" "94520830" "94520830" "subst" "0" "01695" "ABCA4_000727" "g.94520830G>C" "" "{PMID:Sun 2020:33301772}" "" "c.2424C>G p.(Tyr808*)" "" "Unknown" "" "" "0" "" "" "g.94055274G>C" "" "pathogenic (recessive)" ""
"0000772230" "3" "90" "1" "94473790" "94473790" "subst" "0" "01695" "ABCA4_000399" "g.94473790C>T" "" "{PMID:Sun 2020:33301772}" "" "c.5898+1G>A p.(?)" "" "Unknown" "" "" "0" "" "" "g.94008234C>T" "" "pathogenic (recessive)" ""
"0000772231" "0" "90" "1" "94467413" "94467413" "subst" "8.12612E-6" "01695" "ABCA4_000131" "g.94467413C>G" "" "{PMID:Sun 2020:33301772}" "" "c.6282+1G>C p.(?)" "" "Unknown" "" "" "0" "" "" "g.94001857C>G" "" "pathogenic (recessive)" ""
"0000772232" "0" "50" "1" "94544208" "94544208" "subst" "0.000158364" "01695" "ABCA4_000320" "g.94544208C>T" "" "{PMID:Sun 2020:33301772}" "" "c.1294G>A p.(Glu432Lys)" "" "Unknown" "" "" "0" "" "" "g.94078652C>T" "" "VUS" ""
"0000772233" "0" "90" "1" "94471026" "94471026" "subst" "1.21925E-5" "01695" "ABCA4_000791" "g.94471026G>A" "" "{PMID:Sun 2020:33301772}" "" "c.6118C>T p.(Arg2040*)" "" "Unknown" "" "" "0" "" "" "g.94005470G>A" "" "pathogenic (recessive)" ""
"0000772234" "0" "90" "1" "94544895" "94544895" "subst" "1.62455E-5" "01695" "ABCA4_000329" "g.94544895G>A" "" "{PMID:Sun 2020:33301772}" "" "c.1222C>T p.(Arg408*)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94079339G>A" "" "pathogenic (recessive)" ""
"0000772235" "0" "90" "1" "94463667" "94463667" "subst" "0" "01695" "ABCA4_001371" "g.94463667C>A" "" "{PMID:Sun 2020:33301772}" "" "c.6480-1G>T p.(?)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.93998111C>A" "" "pathogenic (recessive)" ""
"0000772236" "21" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Ibanez 2020:33369172}" "" "c.1622 T > C, (p.Leu541Pro) [M]" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000772237" "11" "70" "1" "94577135" "94577135" "subst" "2.43718E-5" "01695" "ABCA4_000240" "g.94577135C>T" "" "{PMID:Ibanez 2020:33369172}" "" "c.161G > A, (p.Cys54Tyr) [P]" "" "Unknown" "" "" "0" "" "" "g.94111579C>T" "" "likely pathogenic (recessive)" ""
"0000772238" "11" "90" "1" "94544895" "94544895" "subst" "1.62455E-5" "01695" "ABCA4_000329" "g.94544895G>A" "" "{PMID:Ibanez 2020:33369172}" "" "c.1222 C > T, (p.Arg408Ter) [P]" "" "Unknown" "" "" "0" "" "" "g.94079339G>A" "" "pathogenic (recessive)" ""
"0000772239" "0" "90" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "" "Prevention Genetics" "" "c.634C>T p.Arg212Cys het" "" "Unknown" "" "" "0" "" "" "g.94098928G>A" "" "pathogenic (recessive)" ""
"0000772240" "0" "70" "1" "94467467" "94467467" "subst" "4.06164E-6" "01695" "ABCA4_000780" "g.94467467G>A" "" "Prevention Genetics" "" "c.6229C>T p.Arg2077Trp het" "" "Unknown" "" "" "0" "" "" "g.94001911G>A" "" "likely pathogenic (recessive)" ""
"0000772241" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "Prevention Genetics" "" "c.2588G>C p.Gly863Ala het" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000772242" "0" "90" "1" "94574257" "94574257" "subst" "0" "01695" "ABCA4_000218" "g.94574257A>C" "" "Prevention Genetics" "" "c.318T>G p.Tyr106* het" "" "Unknown" "" "" "0" "" "" "g.94108701A>C" "" "pathogenic (recessive)" ""
"0000772243" "0" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "" "Prevention Genetics" "" "c.4469G>A p.Cys1490Tyr het" "" "Unknown" "" "" "0" "" "" "g.94029515C>T" "" "likely pathogenic (recessive)" ""
"0000772244" "0" "70" "1" "94471055" "94471055" "subst" "0.00035346" "01695" "ABCA4_000029" "g.94471055C>T" "" "Prevention Genetics" "" "c.6089G>A p.Arg2030Gln het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94005499C>T" "" "likely pathogenic (recessive)" ""
"0000772245" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "" "Prevention Genetics" "" "c.768G>T p.Val256Val het" "" "Unknown" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000772246" "0" "90" "1" "94510253" "94510253" "subst" "0.000247694" "01695" "ABCA4_000108" "g.94510253A>G" "" "Prevention Genetics" "" "c.2966T>C p.Val989Ala het" "" "Unknown" "" "" "0" "" "" "g.94044697A>G" "" "pathogenic (recessive)" ""
"0000772247" "0" "90" "1" "94473278" "94473278" "del" "3.25908E-5" "01695" "ABCA4_000392" "g.94473278del" "" "Prevention Genetics" "" "c.5917delG p.Val1973* het" "" "Unknown" "" "" "0" "" "" "g.94007722del" "" "pathogenic (recessive)" ""
"0000772248" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "Prevention Genetics" "" "c.2588G>C p.Gly863Ala het" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000772249" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "Prevention Genetics" "" "c.2588G>C p.Gly863Ala het" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000772250" "0" "90" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "" "Prevention Genetics" "" "c.634C>T p.Arg212Cys het" "" "Unknown" "" "" "0" "" "" "g.94098928G>A" "" "pathogenic (recessive)" ""
"0000772251" "0" "90" "1" "94473789" "94473789" "subst" "0" "01695" "ABCA4_001644" "g.94473789A>G" "" "Prevention Genetics" "" "c.5898+2T>C Splicing het" "" "Unknown" "" "" "0" "" "" "g.94008233A>G" "" "pathogenic (recessive)" ""
"0000772252" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "Prevention Genetics" "" "c.5882G>A p.Gly1961Glu het" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000772253" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "" "Prevention Genetics" "" "c.1804C>T p.Arg602Trp het" "" "Unknown" "" "" "0" "" "" "g.94062710G>A" "" "pathogenic (recessive)" ""
"0000772254" "0" "90" "1" "94526212" "94526212" "subst" "1.22012E-5" "01695" "ABCA4_000075" "g.94526212G>A" "" "Prevention Genetics" "" "c.2041C>T p.Arg681* het" "" "Unknown" "" "" "0" "" "" "g.94060656G>A" "" "pathogenic (recessive)" ""
"0000772255" "3" "70" "1" "94480241" "94480241" "subst" "7.71705E-5" "01695" "ABCA4_000446" "g.94480241G>A" "" "Prevention Genetics" "" "c.5318C>T p.Ala1773Val homo" "" "Unknown" "" "" "0" "" "" "g.94014685G>A" "" "likely pathogenic (recessive)" ""
"0000772256" "0" "70" "1" "94564500" "94564500" "subst" "0.00100414" "01695" "ABCA4_000069" "g.94564500G>C" "" "Prevention Genetics" "" "c.618C>G p.Ser206Arg het" "" "Unknown" "" "" "0" "" "" "g.94098944G>C" "" "likely pathogenic (recessive)" ""
"0000772257" "0" "90" "1" "94495990" "94495990" "subst" "0" "01695" "ABCA4_001460" "g.94495990C>T" "" "Prevention Genetics" "" "c.4346G>A p.Trp1449* het" "" "Unknown" "" "" "0" "" "" "g.94030434C>T" "" "pathogenic (recessive)" ""
"0000772258" "0" "90" "1" "94578567" "94578567" "subst" "4.06204E-6" "01695" "ABCA4_000247" "g.94578567C>T" "" "Prevention Genetics" "" "c.122G>A p.Trp41* het" "" "Unknown" "" "" "0" "" "" "g.94113011C>T" "" "pathogenic (recessive)" ""
"0000772259" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "Prevention Genetics" "" "c.5882G>A p.Gly1961Glu het" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000772260" "0" "70" "1" "94481388" "94481388" "subst" "0" "01695" "ABCA4_001712" "g.94481388C>T" "" "Prevention Genetics" "" "c.5219G>A p.Gly1740Glu het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94015832C>T" "" "likely pathogenic (recessive)" ""
"0000772261" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "Prevention Genetics" "" "c.5882G>A p.Gly1961Glu het" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000772262" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "Prevention Genetics" "" "c.5461-10T>C Intronic het" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000772263" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "Prevention Genetics" "" "c.2588G>C p.Gly863Ala het" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000772264" "0" "70" "1" "94506923" "94506923" "subst" "2.43657E-5" "01695" "ABCA4_000012" "g.94506923C>T" "" "Prevention Genetics" "" "c.3364G>A p.Glu1122Lys het" "" "Unknown" "" "" "0" "" "" "g.94041367C>T" "" "likely pathogenic (recessive)" ""
"0000772265" "0" "90" "1" "94480222" "94480222" "subst" "0" "01695" "ABCA4_000441" "g.94480222G>C" "" "Prevention Genetics" "" "c.5337C>G p.Tyr1779* het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94014666G>C" "" "pathogenic (recessive)" ""
"0000772266" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "Prevention Genetics" "" "c.3113C>T p.Ala1038Val het" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000772267" "0" "70" "1" "94586570" "94586570" "subst" "4.06101E-6" "01695" "ABCA4_000154" "g.94586570A>G" "" "Prevention Genetics" "" "c.32T>C p.Leu11Pro het" "" "Unknown" "" "" "0" "" "" "g.94121014A>G" "" "likely pathogenic (recessive)" ""
"0000772268" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "Prevention Genetics" "" "c.4139C>T p.Pro1380Leu het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000772269" "0" "50" "1" "94466667" "94466667" "subst" "1.22464E-5" "01695" "ABCA4_001591" "g.94466667G>T" "" "Prevention Genetics" "" "c.6283-6C>A Intronic het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94001111G>T" "" "VUS" ""
"0000772270" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "Prevention Genetics" "" "c.5882G>A p.Gly1961Glu het" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000772271" "0" "70" "1" "94497338" "94497338" "subst" "4.09836E-6" "01695" "ABCA4_001462" "g.94497338G>T" "" "Prevention Genetics" "" "c.4124C>A p.Ala1375Glu het" "" "Unknown" "" "" "0" "" "" "g.94031782G>T" "" "likely pathogenic (recessive)" ""
"0000772272" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "Prevention Genetics" "" "c.2588G>C p.Gly863Ala het" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000772273" "0" "70" "1" "94490567" "94490567" "subst" "5.68528E-5" "01695" "ABCA4_000026" "g.94490567G>A" "" "Prevention Genetics" "" "c.4577C>T p.Thr1526Met het" "" "Unknown" "" "" "0" "" "" "g.94025011G>A" "" "likely pathogenic (recessive)" ""
"0000772274" "0" "70" "1" "94486896" "94486896" "subst" "3.65562E-5" "01695" "ABCA4_000085" "g.94486896G>A" "" "Prevention Genetics" "" "c.4918C>T p.Arg1640Trp het" "" "Unknown" "" "" "0" "" "" "g.94021340G>A" "" "likely pathogenic (recessive)" ""
"0000772275" "0" "70" "1" "94486896" "94486896" "subst" "3.65562E-5" "01695" "ABCA4_000085" "g.94486896G>A" "" "Prevention Genetics" "" "c.4918C>T p.Arg1640Trp het" "" "Unknown" "" "" "0" "" "" "g.94021340G>A" "" "likely pathogenic (recessive)" ""
"0000772276" "0" "70" "1" "94467475" "94467475" "subst" "3.65542E-5" "01695" "ABCA4_000171" "g.94467475C>A" "" "Prevention Genetics" "" "c.6221G>T p.Gly2074Val het" "" "Unknown" "" "" "0" "" "" "g.94001919C>A" "" "likely pathogenic (recessive)" ""
"0000772277" "0" "90" "1" "94485137" "94485137" "subst" "0" "01695" "ABCA4_000464" "g.94485137C>T" "" "Prevention Genetics" "" "c.5196+1G>A Splicing het" "" "Unknown" "" "" "0" "" "" "g.94019581C>T" "" "pathogenic (recessive)" ""
"0000772278" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "Prevention Genetics" "" "c.5714+5G>A Intronic het" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000772279" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "Prevention Genetics" "" "c.3113C>T p.Ala1038Val het" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000772280" "0" "90" "1" "94526212" "94526212" "subst" "1.22012E-5" "01695" "ABCA4_000075" "g.94526212G>A" "" "Prevention Genetics" "" "c.2041C>T p.Arg681* het" "" "Unknown" "" "" "0" "" "" "g.94060656G>A" "" "pathogenic (recessive)" ""
"0000772281" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "Prevention Genetics" "" "c.2588G>C p.Gly863Ala het" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000772282" "0" "90" "1" "94509026" "94509026" "subst" "4.06497E-5" "01695" "ABCA4_000660" "g.94509026G>A" "" "Prevention Genetics" "" "c.3056C>T p.Thr1019Met het" "" "Unknown" "" "" "0" "" "" "g.94043470G>A" "" "pathogenic (recessive)" ""
"0000772283" "0" "90" "1" "94495009" "94495009" "dup" "0" "01695" "ABCA4_000087" "g.94495009dup" "" "Prevention Genetics" "" "c.4537dupC p.Gln1513Profs*42 het" "" "Unknown" "" "" "0" "" "" "g.94029453dup" "" "pathogenic (recessive)" ""
"0000772284" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "Prevention Genetics" "" "c.5714+5G>A Intronic Het" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000772285" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "Prevention Genetics" "" "c.5882G>A p.Gly1961Glu Het" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000772286" "0" "90" "1" "94564442" "94564454" "del" "0" "01695" "ABCA4_000377" "g.94564442_94564454del" "" "Prevention Genetics" "" "c.666_678del13 p.Lys223Metfs*14 Het" "" "Unknown" "" "" "0" "" "" "g.94098886_94098898del" "" "pathogenic (recessive)" ""
"0000772287" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "Prevention Genetics" "" "c.5461-10T>C Intronic Het" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000772288" "0" "30" "1" "94506957" "94506957" "subst" "1.21849E-5" "01695" "ABCA4_001910" "g.94506957G>T" "" "Prevention Genetics" "" "c.3330C>A p.Gly1110Gly Het" "" "Unknown" "" "" "0" "" "" "g.94041401G>T" "" "likely benign" ""
"0000772289" "0" "50" "1" "94461675" "94461675" "subst" "3.25388E-5" "01695" "ABCA4_000875" "g.94461675C>T" "" "Prevention Genetics" "" "c.6806G>A p.Arg2269Gln Het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.93996119C>T" "" "VUS" ""
"0000772290" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "" "Prevention Genetics" "" "c.6079C>T p.Leu2027Phe Het" "" "Unknown" "" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic (recessive)" ""
"0000772291" "0" "70" "1" "94490567" "94490567" "subst" "5.68528E-5" "01695" "ABCA4_000026" "g.94490567G>A" "" "Prevention Genetics" "" "c.4577C>T p.Thr1526Met het" "" "Unknown" "" "" "0" "" "" "g.94025011G>A" "" "likely pathogenic (recessive)" ""
"0000772292" "0" "50" "1" "94520678" "94520678" "subst" "8.9367E-5" "01695" "ABCA4_002014" "g.94520678T>C" "" "Prevention Genetics" "" "c.2576A>G p.Gln859Arg Het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94055122T>C" "" "VUS" ""
"0000772293" "0" "90" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "" "Prevention Genetics" "" "c.6320G>A p.Arg2107His het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94001068C>T" "" "pathogenic (recessive)" ""
"0000772294" "0" "70" "1" "94490567" "94490567" "subst" "5.68528E-5" "01695" "ABCA4_000026" "g.94490567G>A" "" "Prevention Genetics" "" "c.4577C>T p.Thr1526Met Het" "" "Unknown" "" "" "0" "" "" "g.94025011G>A" "" "likely pathogenic (recessive)" ""
"0000772295" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "Prevention Genetics" "" "c.1622T>C p.Leu541Pro Het" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000772296" "0" "70" "1" "94471055" "94471055" "subst" "0.00035346" "01695" "ABCA4_000029" "g.94471055C>T" "" "Prevention Genetics" "" "c.6089G>A p.Arg2030Gln het" "" "Unknown" "" "" "0" "" "" "g.94005499C>T" "" "likely pathogenic (recessive)" ""
"0000772297" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "Prevention Genetics" "" "c.5461-10T>C Intronic het" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000772298" "0" "70" "1" "94487251" "94487251" "subst" "2.85679E-5" "01695" "ABCA4_000490" "g.94487251G>T" "" "Prevention Genetics" "" "c.4793C>A p.Ala1598Asp Het" "" "Unknown" "" "" "0" "" "" "g.94021695G>T" "" "likely pathogenic (recessive)" ""
"0000772299" "0" "90" "1" "94568577" "94568577" "del" "0" "01695" "ABCA4_000201" "g.94568577del" "" "Prevention Genetics" "" "c.564delA p.Glu189Serfs*12 HET" "" "Unknown" "" "" "0" "" "" "g.94103021del" "" "pathogenic (recessive)" ""
"0000772300" "0" "90" "1" "94496047" "94496047" "del" "0" "01695" "ABCA4_000553" "g.94496047del" "" "Prevention Genetics" "" "c.4290delT p.Ala1431Glnfs*5 Het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94030491del" "" "pathogenic (recessive)" ""
"0000772301" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "Prevention Genetics" "" "c.5882G>A p.Gly1961Glu Het" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000772302" "0" "50" "1" "94487404" "94487404" "subst" "0.00244055" "01695" "ABCA4_000497" "g.94487404C>T" "" "Prevention Genetics" "" "c.4771G>A p.Gly1591Arg het" "" "Unknown" "" "" "0" "" "" "g.94021848C>T" "" "VUS" ""
"0000772303" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "Prevention Genetics" "" "c.5461-10T>C Intronic Het" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000772304" "0" "90" "1" "94586601" "94586601" "subst" "8.12156E-6" "01695" "ABCA4_000264" "g.94586601T>C" "" "Prevention Genetics" "" "c.1A>G p.Met1? het" "" "Unknown" "" "" "0" "" "" "g.94121045T>C" "" "pathogenic (recessive)" ""
"0000772305" "3" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "Prevention Genetics" "" "c.5882G>A p.Gly1961Glu hom" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000772306" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "" "Prevention Genetics" "" "c.6079C>T p.Leu2027Phe het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic (recessive)" ""
"0000772307" "0" "90" "1" "94546195" "94546195" "del" "0" "01695" "ABCA4_002152" "g.94546195del" "" "Prevention Genetics" "" "c.938delC p.Thr313Lysfs*3 het" "" "Unknown" "" "" "0" "" "" "g.94080639del" "" "pathogenic (recessive)" ""
"0000772308" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "Prevention Genetics" "" "c.5461-10T>C Intronic het" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000772309" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "Prevention Genetics" "" "c.5461-10T>C Intronic het" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000772310" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "" "Prevention Genetics" "" "c.6079C>T p.Leu2027Phe het" "" "Unknown" "" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic (recessive)" ""
"0000772311" "0" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "" "Prevention Genetics" "" "c.4469G>A p.Cys1490Tyr het" "" "Unknown" "" "" "0" "" "" "g.94029515C>T" "" "likely pathogenic (recessive)" ""
"0000772312" "0" "70" "1" "94476832" "94476832" "subst" "0" "01695" "ABCA4_001681" "g.94476832A>C" "" "Prevention Genetics" "" "c.5570T>G p.Val1857Gly Het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94011276A>C" "" "likely pathogenic (recessive)" ""
"0000772313" "0" "70" "1" "94485136" "94485136" "dup" "0" "01695" "ABCA4_001724" "g.94485136dup" "" "Prevention Genetics" "" "c.5196+2dupT Splicing Hom" "" "Unknown" "" "" "0" "" "" "g.94019580dup" "" "likely pathogenic (recessive)" ""
"0000772314" "0" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "" "Prevention Genetics" "" "c.4469G>A p.Cys1490Tyr het" "" "Unknown" "" "" "0" "" "" "g.94029515C>T" "" "likely pathogenic (recessive)" ""
"0000772315" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "Prevention Genetics" "" "c.5461-10T>C Intronic het" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000772316" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "Prevention Genetics" "" "c.2588G>C p.Gly863Ala het" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000772317" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "Prevention Genetics" "" "c.5461-10T>C Intronic het" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000772318" "0" "70" "1" "94578618" "94578618" "subst" "0.000166918" "01695" "ABCA4_000252" "g.94578618C>T" "" "Prevention Genetics" "" "c.71G>A p.Arg24His het" "" "Unknown" "" "" "0" "" "" "g.94113062C>T" "" "likely pathogenic (recessive)" ""
"0000772319" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "Prevention Genetics" "" "c.5461-10T>C Intronic het" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000772320" "0" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "" "Prevention Genetics" "" "c.4469G>A p.Cys1490Tyr het" "" "Unknown" "" "" "0" "" "" "g.94029515C>T" "" "likely pathogenic (recessive)" ""
"0000772321" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "Prevention Genetics" "" "c.5461-10T>C Intronic het" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000772322" "3" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "Prevention Genetics" "" "c.4139C>T p.Pro1380Leu homo" "" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000772323" "0" "70" "1" "94495002" "94495002" "subst" "0" "01695" "ABCA4_000532" "g.94495002T>G" "" "Prevention Genetics" "" "c.4538A>C p.Gln1513Pro het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94029446T>G" "" "likely pathogenic (recessive)" ""
"0000772324" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "" "Prevention Genetics" "" "c.768G>T p.Val256Val het" "" "Unknown" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000772325" "0" "70" "1" "94467467" "94467467" "subst" "4.06164E-6" "01695" "ABCA4_000780" "g.94467467G>A" "" "Prevention Genetics" "" "c.6229C>T p.Arg2077Trp Het" "" "Unknown" "" "" "0" "" "" "g.94001911G>A" "" "likely pathogenic (recessive)" ""
"0000772326" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "Prevention Genetics" "" "c.4139C>T p.Pro1380Leu het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000772327" "3" "90" "1" "94473278" "94473278" "del" "3.25908E-5" "01695" "ABCA4_000392" "g.94473278del" "" "Prevention Genetics" "" "c.5917delG p.Val1973* Hom" "" "Unknown" "" "" "0" "" "" "g.94007722del" "" "pathogenic (recessive)" ""
"0000772328" "0" "90" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "" "Prevention Genetics" "" "c.634C>T p.Arg212Cys het" "" "Unknown" "" "" "0" "" "" "g.94098928G>A" "" "pathogenic (recessive)" ""
"0000772329" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "" "Prevention Genetics" "" "c.768G>T p.Val256Val het" "" "Unknown" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000772330" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "Prevention Genetics" "" "c.3113C>T p.Ala1038Val Het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000772331" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "Prevention Genetics" "" "c.5461-10T>C Intronic het" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000772332" "0" "70" "1" "94528819" "94528819" "subst" "2.03128E-5" "01695" "ABCA4_000078" "g.94528819G>A" "" "Prevention Genetics" "" "c.1609C>T p.Arg537Cys Het" "" "Unknown" "" "" "0" "" "" "g.94063263G>A" "" "likely pathogenic (recessive)" ""
"0000772333" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "Prevention Genetics" "" "c.5461-10T>C Intronic het" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000772334" "0" "70" "1" "94577135" "94577135" "subst" "2.43718E-5" "01695" "ABCA4_000240" "g.94577135C>T" "" "Prevention Genetics" "" "c.161G>A p.Cys54Tyr het" "" "Unknown" "" "" "0" "" "" "g.94111579C>T" "" "likely pathogenic (recessive)" ""
"0000772335" "0" "90" "1" "94526296" "94526296" "subst" "1.64555E-5" "01695" "ABCA4_000768" "g.94526296G>A" "" "Prevention Genetics" "" "c.1957C>T p.Arg653Cys het" "" "Unknown" "" "" "0" "" "" "g.94060740G>A" "" "pathogenic (recessive)" ""
"0000772336" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "Prevention Genetics" "" "c.1622T>C p.Leu541Pro het" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000772337" "0" "50" "1" "94496610" "94496610" "subst" "2.03128E-5" "01695" "ABCA4_000571" "g.94496610C>T" "" "Prevention Genetics" "" "c.4195G>A p.Glu1399Lys het" "" "Unknown" "" "" "0" "" "" "g.94031054C>T" "" "VUS" ""
"0000772338" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "Prevention Genetics" "" "c.5882G>A p.Gly1961Glu het" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000772339" "0" "90" "1" "94466628" "94466628" "subst" "0.000109748" "01695" "ABCA4_000094" "g.94466628G>A" "" "Prevention Genetics" "" "c.6316C>T p.Arg2106Cys het" "" "Unknown" "" "" "0" "" "" "g.94001072G>A" "" "pathogenic (recessive)" ""
"0000772340" "0" "70" "1" "94467475" "94467475" "subst" "1.62463E-5" "01695" "ABCA4_001599" "g.94467475C>T" "" "Prevention Genetics" "" "c.6221G>A p.Gly2074Asp het" "" "Unknown" "" "" "0" "" "" "g.94001919C>T" "" "likely pathogenic (recessive)" ""
"0000772341" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "Prevention Genetics" "" "c.5461-10T>C Intronic het" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000772342" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "Prevention Genetics" "" "c.5882G>A p.Gly1961Glu Het" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000772343" "0" "90" "1" "94517226" "94517226" "del" "0" "01695" "ABCA4_002003" "g.94517226del" "" "Prevention Genetics" "" "c.2616delC p.Leu874Phefs*27 het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94051670del" "" "pathogenic (recessive)" ""
"0000772344" "0" "70" "1" "94577135" "94577135" "subst" "2.43718E-5" "01695" "ABCA4_000240" "g.94577135C>T" "" "Prevention Genetics" "" "c.161G>A p.Cys54Tyr het" "" "Unknown" "" "" "0" "" "" "g.94111579C>T" "" "likely pathogenic (recessive)" ""
"0000772345" "0" "90" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "" "Prevention Genetics" "" "c.6320G>A p.Arg2107His het" "" "Unknown" "" "" "0" "" "" "g.94001068C>T" "" "pathogenic (recessive)" ""
"0000772346" "0" "90" "1" "94564442" "94564454" "del" "0" "01695" "ABCA4_000377" "g.94564442_94564454del" "" "Prevention Genetics" "" "c.666_678del13 p.Lys223Metfs*14 het" "" "Unknown" "" "" "0" "" "" "g.94098886_94098898del" "" "pathogenic (recessive)" ""
"0000772347" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "Prevention Genetics" "" "c.5882G>A p.Gly1961Glu Het" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000772348" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "Prevention Genetics" "" "c.2588G>C p.Gly863Ala het" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000772349" "0" "50" "1" "94497579" "94497579" "subst" "4.13373E-6" "01695" "ABCA4_001860" "g.94497579C>T" "" "Prevention Genetics" "" "c.3883G>A p.Glu1295Lys Het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94032023C>T" "" "VUS" ""
"0000772350" "0" "50" "1" "94496610" "94496610" "subst" "2.03128E-5" "01695" "ABCA4_000571" "g.94496610C>T" "" "Prevention Genetics" "" "c.4195G>A p.Glu1399Lys het" "" "Unknown" "" "" "0" "" "" "g.94031054C>T" "" "VUS" ""
"0000772351" "0" "90" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "" "Prevention Genetics" "" "c.2894A>G p.Asn965Ser het" "" "Unknown" "" "" "0" "" "" "g.94046943T>C" "" "pathogenic (recessive)" ""
"0000772352" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "Prevention Genetics" "" "c.5714+5G>A Intronic het" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000772353" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "Prevention Genetics" "" "c.2588G>C p.Gly863Ala het" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000772354" "0" "50" "1" "94487460" "94487460" "subst" "0.000113716" "01695" "ABCA4_000505" "g.94487460G>A" "" "Prevention Genetics" "" "c.4715C>T p.Thr1572Met Het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94021904G>A" "" "VUS" ""
"0000772355" "0" "90" "1" "94528868" "94528868" "del" "0" "01695" "ABCA4_000304" "g.94528868del" "" "Prevention Genetics" "" "c.1561delG p.Val521Serfs*47 het" "" "Unknown" "" "" "0" "" "" "g.94063312del" "" "pathogenic (recessive)" ""
"0000772356" "0" "50" "1" "94568703" "94568703" "subst" "0" "01695" "ABCA4_002208" "g.94568703A>G" "" "Prevention Genetics" "" "c.443-5T>C Intronic Het" "" "Unknown" "" "" "0" "" "" "g.94103147A>G" "" "VUS" ""
"0000772357" "0" "90" "1" "94576993" "94576993" "subst" "2.03513E-5" "01695" "ABCA4_000069" "g.94576993C>T" "" "Prevention Genetics" "" "c.302+1G>A Splicing het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94111437C>T" "" "pathogenic (recessive)" ""
"0000772358" "0" "90" "1" "94510248" "94510248" "subst" "0.000544123" "01695" "ABCA4_000107" "g.94510248C>G" "" "Prevention Genetics" "" "c.2971G>C p.Gly991Arg het" "" "Unknown" "" "" "0" "" "" "g.94044692C>G" "" "pathogenic (recessive)" ""
"0000772359" "3" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "Prevention Genetics" "" "c.4139C>T p.Pro1380Leu hom" "" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000772360" "0" "70" "1" "94528819" "94528819" "subst" "2.03128E-5" "01695" "ABCA4_000078" "g.94528819G>A" "" "Prevention Genetics" "" "c.1609C>T p.Arg537Cys het" "" "Unknown" "" "" "0" "" "" "g.94063263G>A" "" "likely pathogenic (recessive)" ""
"0000772361" "0" "50" "1" "94514466" "94514466" "subst" "0.00192081" "01695" "ABCA4_000008" "g.94514466T>C" "" "Prevention Genetics" "" "c.2701A>G p.Thr901Ala het" "" "Unknown" "" "" "0" "" "" "g.94048910T>C" "" "VUS" ""
"0000772362" "0" "50" "1" "94544140" "94544141" "ins" "0.000938872" "01695" "ABCA4_001241" "g.94544140_94544141insG" "" "Prevention Genetics" "" "c.1356+5_1356+6insC Intronic het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94078584_94078585insG" "" "VUS" ""
"0000772363" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "Prevention Genetics" "" "c.5461-10T>C Intronic het" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000772364" "0" "70" "1" "94546118" "94546118" "subst" "8.13326E-6" "01695" "ABCA4_000082" "g.94546118A>C" "" "Prevention Genetics" "" "c.1015T>G p.Trp339Gly het" "" "Unknown" "" "" "0" "" "" "g.94080562A>C" "" "likely pathogenic (recessive)" ""
"0000772365" "0" "50" "1" "94487404" "94487404" "subst" "0.00244055" "01695" "ABCA4_000497" "g.94487404C>T" "" "Prevention Genetics" "" "c.4771G>A p.Gly1591Arg het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94021848C>T" "" "VUS" ""
"0000772366" "0" "50" "1" "94526920" "94526920" "subst" "0" "01695" "ABCA4_002063" "g.94526920G>A" "" "Prevention Genetics" "" "c.1938-605C>T Intronic het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94061364G>A" "" "VUS" ""
"0000772367" "0" "50" "1" "94467548" "94467548" "subst" "0.00295661" "01695" "ABCA4_000788" "g.94467548C>G" "" "Prevention Genetics" "" "c.6148G>C p.Val2050Leu het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94001992C>G" "" "VUS" ""
"0000772368" "0" "90" "1" "94577046" "94577049" "dup" "0" "01695" "ABCA4_000227" "g.94577046_94577049dup" "" "Prevention Genetics" "" "c.247_250dupCAAA p.Ser84Thrfs*16 het" "" "Unknown" "" "" "0" "" "" "g.94111490_94111493dup" "" "pathogenic (recessive)" ""
"0000772369" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "Prevention Genetics" "" "c.2588G>C p.Gly863Ala het" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000772370" "0" "90" "1" "94508435" "94508436" "dup" "0" "01695" "ABCA4_000998" "g.94508435_94508436dup" "" "Prevention Genetics" "" "c.3210_3211dupGT p.Ser1071Cysfs*14 het" "" "Unknown" "" "" "0" "" "" "g.94042879_94042880dup" "" "pathogenic (recessive)" ""
"0000772371" "0" "50" "1" "94487490" "94487490" "subst" "0.00122268" "01695" "ABCA4_000506" "g.94487490A>G" "" "Prevention Genetics" "" "c.4685T>C p.Ile1562Thr Het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94021934A>G" "" "VUS" ""
"0000772372" "0" "50" "1" "94564499" "94564499" "subst" "7.78261E-5" "01695" "ABCA4_002188" "g.94564499C>G" "" "Prevention Genetics" "" "c.619G>C p.Glu207Gln het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94098943C>G" "" "VUS" ""
"0000772373" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "Prevention Genetics" "" "c.2588G>C p.Gly863Ala het" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000772374" "0" "90" "1" "94526212" "94526212" "subst" "1.22012E-5" "01695" "ABCA4_000075" "g.94526212G>A" "" "Prevention Genetics" "" "c.2041C>T p.Arg681* het" "" "Unknown" "" "" "0" "" "" "g.94060656G>A" "" "pathogenic (recessive)" ""
"0000772375" "0" "90" "1" "94466658" "94466658" "subst" "8.14817E-6" "01695" "ABCA4_000132" "g.94466658C>T" "" "Prevention Genetics" "" "c.6286G>A p.Glu2096Lys Het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94001102C>T" "" "pathogenic (recessive)" ""
"0000772376" "0" "90" "1" "94495009" "94495009" "dup" "0" "01695" "ABCA4_000087" "g.94495009dup" "" "Prevention Genetics" "" "c.4537dupC p.Gln1513Profs*42 Het" "" "Unknown" "" "" "0" "" "" "g.94029453dup" "" "pathogenic (recessive)" ""
"0000772377" "0" "90" "1" "94520690" "94520690" "subst" "2.03102E-5" "01695" "ABCA4_000149" "g.94520690C>T" "" "Prevention Genetics" "" "c.2564G>A p.Trp855* het" "" "Unknown" "" "" "0" "" "" "g.94055134C>T" "" "pathogenic (recessive)" ""
"0000772378" "3" "70" "1" "94490550" "94490550" "subst" "0.000105588" "01695" "ABCA4_000523" "g.94490550C>T" "" "Prevention Genetics" "" "c.4594G>A p.Asp1532Asn hom" "" "Unknown" "" "" "0" "" "" "g.94024994C>T" "" "likely pathogenic (recessive)" ""
"0000772379" "0" "70" "1" "94471055" "94471055" "subst" "0.00035346" "01695" "ABCA4_000029" "g.94471055C>T" "" "Prevention Genetics" "" "c.6089G>A p.Arg2030Gln het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94005499C>T" "" "likely pathogenic (recessive)" ""
"0000772380" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "Prevention Genetics" "" "c.5461-10T>C Intronic het" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000772381" "0" "70" "1" "94486836" "94486836" "subst" "8.12255E-6" "01695" "ABCA4_001739" "g.94486836G>A" "" "Prevention Genetics" "" "c.4978C>T p.Pro1660Ser het" "" "Unknown" "" "" "0" "" "" "g.94021280G>A" "" "likely pathogenic (recessive)" ""
"0000772382" "0" "50" "1" "94495994" "94495994" "subst" "0.00019493" "01695" "ABCA4_000548" "g.94495994C>T" "" "Prevention Genetics" "" "c.4342G>A p.Gly1448Arg Het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94030438C>T" "" "VUS" ""
"0000772383" "0" "50" "1" "94505600" "94505600" "subst" "0" "01695" "ABCA4_001885" "g.94505600A>G" "" "Prevention Genetics" "" "c.3606T>C p.Asp1202Asp Het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94040044A>G" "" "VUS" ""
"0000772384" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "Prevention Genetics" "" "c.5882G>A p.Gly1961Glu het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000772385" "0" "50" "1" "94576998" "94576998" "subst" "0" "01695" "ABCA4_000222" "g.94576998A>G" "" "Prevention Genetics" "" "c.298T>C p.Ser100Pro het" "" "Unknown" "" "" "0" "" "" "g.94111442A>G" "" "VUS" ""
"0000772386" "0" "70" "1" "94481322" "94481330" "del" "0" "01695" "ABCA4_000453" "g.94481322_94481330del" "" "Prevention Genetics" "" "c.5281_5289del9 p.Pro1761_Leu1763del het" "" "Unknown" "" "" "0" "" "" "g.94015766_94015774del" "" "likely pathogenic (recessive)" ""
"0000772387" "0" "50" "1" "94544977" "94544977" "subst" "0.000544432" "01695" "ABCA4_000332" "g.94544977A>T" "" "Prevention Genetics" "" "c.1140T>A p.Asn380Lys het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94079421A>T" "" "VUS" ""
"0000772388" "0" "90" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "" "Prevention Genetics" "" "c.634C>T p.Arg212Cys het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94098928G>A" "" "pathogenic (recessive)" ""
"0000772389" "0" "30" "1" "94564522" "94564522" "subst" "0.000157718" "01695" "ABCA4_002193" "g.94564522G>A" "" "Prevention Genetics" "" "c.596C>T p.Ala199Val het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94098966G>A" "" "likely benign" ""
"0000772390" "0" "90" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "" "Prevention Genetics" "" "c.634C>T p.Arg212Cys het" "" "Unknown" "" "" "0" "" "" "g.94098928G>A" "" "pathogenic (recessive)" ""
"0000772391" "0" "90" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "" "Prevention Genetics" "" "c.2894A>G p.Asn965Ser het" "" "Unknown" "" "" "0" "" "" "g.94046943T>C" "" "pathogenic (recessive)" ""
"0000772392" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "Prevention Genetics" "" "c.2588G>C p.Gly863Ala het" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000772393" "0" "50" "1" "94496039" "94496039" "subst" "0.00157963" "01695" "ABCA4_000552" "g.94496039C>T" "" "Prevention Genetics" "" "c.4297G>A p.Val1433Ile Het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94030483C>T" "" "VUS" ""
"0000772394" "0" "50" "1" "94512602" "94512602" "subst" "0.000369717" "01695" "ABCA4_000052" "g.94512602C>T" "" "Prevention Genetics" "" "c.2791G>A p.Val931Met Het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94047046C>T" "" "VUS" ""
"0000772395" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "Prevention Genetics" "" "c.5882G>A p.Gly1961Glu het" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000772396" "0" "90" "1" "94480107" "94480107" "del" "0" "01695" "ABCA4_001050" "g.94480107del" "" "Prevention Genetics" "" "c.5453delA p.Asn1818Ilefs*12 het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94014551del" "" "pathogenic (recessive)" ""
"0000772397" "0" "50" "1" "94514477" "94514477" "subst" "0.00118992" "01695" "ABCA4_000700" "g.94514477G>A" "" "Prevention Genetics" "" "c.2690C>T p.Thr897Ile Het" "" "Unknown" "" "" "0" "" "" "g.94048921G>A" "" "VUS" ""
"0000772398" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "Prevention Genetics" "" "c.2588G>C p.Gly863Ala Het" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000772399" "0" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "" "Prevention Genetics" "" "c.4469G>A p.Cys1490Tyr het" "" "Unknown" "" "" "0" "" "" "g.94029515C>T" "" "likely pathogenic (recessive)" ""
"0000772400" "0" "50" "1" "94568675" "94568675" "subst" "0.00146249" "01695" "ABCA4_000210" "g.94568675T>C" "" "Prevention Genetics" "" "c.466A>G p.Ile156Val Het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94103119T>C" "" "VUS" ""
"0000772401" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "Prevention Genetics" "" "c.5461-10T>C Intronic het" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000772402" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "Prevention Genetics" "" "c.5882G>A p.Gly1961Glu het" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000772403" "0" "50" "1" "94564441" "94564441" "subst" "0.000203171" "01695" "ABCA4_001513" "g.94564441C>A" "" "Prevention Genetics" "" "c.677G>T p.Arg226Leu Het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94098885C>A" "" "VUS" ""
"0000772404" "3" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "Prevention Genetics" "" "c.4139C>T p.Pro1380Leu hom" "" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000772405" "0" "90" "1" "94510248" "94510248" "subst" "0.000544123" "01695" "ABCA4_000107" "g.94510248C>G" "" "Prevention Genetics" "" "c.2971G>C p.Gly991Arg het" "" "Unknown" "" "" "0" "" "" "g.94044692C>G" "" "pathogenic (recessive)" ""
"0000772406" "3" "50" "1" "94480146" "94480146" "subst" "2.84273E-5" "01695" "ABCA4_000122" "g.94480146T>C" "" "Prevention Genetics" "" "c.5413A>G p.Asn1805Asp hom" "" "Unknown" "" "" "0" "" "" "g.94014590T>C" "" "VUS" ""
"0000772407" "0" "90" "1" "94508386" "94508386" "subst" "1.62443E-5" "01695" "ABCA4_000642" "g.94508386C>T" "" "Prevention Genetics" "" "c.3259G>A p.Glu1087Lys HET" "" "Unknown" "" "" "0" "" "" "g.94042830C>T" "" "pathogenic (recessive)" ""
"0000772408" "0" "90" "1" "94508435" "94508436" "dup" "0" "01695" "ABCA4_000998" "g.94508435_94508436dup" "" "Prevention Genetics" "" "c.3210_3211dupGT p.Ser1071Cysfs*14 HET" "" "Unknown" "" "" "0" "" "" "g.94042879_94042880dup" "" "pathogenic (recessive)" ""
"0000772409" "0" "90" "1" "94508435" "94508436" "dup" "0" "01695" "ABCA4_000998" "g.94508435_94508436dup" "" "Prevention Genetics" "" "c.3210_3211dupGT p.Ser1071Cysfs*14 Het" "" "Unknown" "" "" "0" "" "" "g.94042879_94042880dup" "" "pathogenic (recessive)" ""
"0000772410" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "" "Prevention Genetics" "" "c.3322C>T p.Arg1108Cys HET" "" "Unknown" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000772411" "0" "90" "1" "94578566" "94578566" "subst" "4.06207E-6" "01695" "ABCA4_000246" "g.94578566C>T" "" "Prevention Genetics" "" "c.123G>A p.Trp41* Het" "" "Unknown" "" "" "0" "" "" "g.94113010C>T" "" "pathogenic (recessive)" ""
"0000772412" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "Prevention Genetics" "" "c.4139C>T p.Pro1380Leu het" "" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000772413" "0" "90" "1" "94497564" "94497564" "subst" "1.64383E-5" "01695" "ABCA4_000091" "g.94497564G>A" "" "Prevention Genetics" "" "c.3898C>T p.Arg1300* het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94032008G>A" "" "pathogenic (recessive)" ""
"0000772414" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "Prevention Genetics" "" "c.5882G>A p.Gly1961Glu het" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000772415" "0" "90" "1" "94480243" "94480243" "subst" "4.06124E-6" "01695" "ABCA4_000448" "g.94480243C>T" "" "Prevention Genetics" "" "c.5316G>A p.Trp1772* het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94014687C>T" "" "pathogenic (recessive)" ""
"0000772416" "0" "70" "1" "94577117" "94577117" "subst" "1.62472E-5" "01695" "ABCA4_000237" "g.94577117G>A" "" "Prevention Genetics" "" "c.179C>T p.Ala60Val het" "" "Unknown" "" "" "0" "" "" "g.94111561G>A" "" "likely pathogenic (recessive)" ""
"0000772417" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "Prevention Genetics" "" "c.5461-10T>C Intronic het" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000772418" "0" "70" "1" "94528217" "94528217" "subst" "0" "01695" "ABCA4_000272" "g.94528217C>T" "" "Prevention Genetics" "" "c.1853G>A p.Gly618Glu het" "" "Unknown" "" "" "0" "" "" "g.94062661C>T" "" "likely pathogenic (recessive)" ""
"0000772419" "0" "70" "1" "94486896" "94486896" "subst" "3.65562E-5" "01695" "ABCA4_000085" "g.94486896G>A" "" "Prevention Genetics" "" "c.4918C>T p.Arg1640Trp het" "" "Unknown" "" "" "0" "" "" "g.94021340G>A" "" "likely pathogenic (recessive)" ""
"0000772420" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "" "Prevention Genetics" "" "c.768G>T p.Val256Val het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000772421" "0" "50" "1" "94473287" "94473287" "subst" "0.00293818" "01695" "ABCA4_000395" "g.94473287G>A" "" "Prevention Genetics" "" "c.5908C>T p.Leu1970Phe het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94007731G>A" "" "VUS" ""
"0000772422" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "" "Prevention Genetics" "" "c.3322C>T p.Arg1108Cys het" "" "Unknown" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000772423" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "Prevention Genetics" "" "c.4139C>T p.Pro1380Leu het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000772424" "0" "90" "1" "94577046" "94577049" "dup" "0" "01695" "ABCA4_000227" "g.94577046_94577049dup" "" "Prevention Genetics" "" "c.247_250dupCAAA p.Ser84Thrfs*16 het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94111490_94111493dup" "" "pathogenic (recessive)" ""
"0000772425" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "Prevention Genetics" "" "c.4139C>T p.Pro1380Leu Het" "" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000772426" "0" "70" "1" "94568678" "94568678" "subst" "0" "01695" "ABCA4_002205" "g.94568678C>T" "" "Prevention Genetics" "" "c.463G>A p.Asp155Asn het" "" "Unknown" "" "" "0" "" "" "g.94103122C>T" "" "likely pathogenic (recessive)" ""
"0000772427" "0" "50" "1" "94480146" "94480146" "subst" "2.84273E-5" "01695" "ABCA4_000122" "g.94480146T>C" "" "Prevention Genetics" "" "c.5413A>G p.Asn1805Asp het" "" "Unknown" "" "" "0" "" "" "g.94014590T>C" "" "VUS" ""
"0000772428" "0" "90" "1" "94544158" "94544158" "del" "0" "01695" "ABCA4_000315" "g.94544158del" "" "Prevention Genetics" "" "c.1344delG p.Met448Ilefs*3 het" "" "Unknown" "" "" "0" "" "" "g.94078602del" "" "pathogenic (recessive)" ""
"0000772429" "0" "90" "1" "94495009" "94495009" "dup" "0" "01695" "ABCA4_000087" "g.94495009dup" "" "Prevention Genetics" "" "c.4537dupC p.Gln1513Profs*42 het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94029453dup" "" "pathogenic (recessive)" ""
"0000772430" "0" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "" "Prevention Genetics" "" "c.4469G>A p.Cys1490Tyr het" "" "Unknown" "" "" "0" "" "" "g.94029515C>T" "" "likely pathogenic (recessive)" ""
"0000772431" "3" "50" "1" "94506825" "94506825" "subst" "0" "01695" "ABCA4_001898" "g.94506825G>A" "" "Prevention Genetics" "" "c.3462C>T p.Gly1154Gly Hom" "" "Unknown" "" "" "0" "" "" "g.94041269G>A" "" "VUS" ""
"0000772432" "0" "50" "1" "94487490" "94487490" "subst" "0.00122268" "01695" "ABCA4_000506" "g.94487490A>G" "" "Prevention Genetics" "" "c.4685T>C p.Ile1562Thr Het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94021934A>G" "" "VUS" ""
"0000772433" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "Prevention Genetics" "" "c.5882G>A p.Gly1961Glu het" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000772434" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "Prevention Genetics" "" "c.3113C>T p.Ala1038Val het" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000772435" "0" "90" "1" "94496613" "94496613" "del" "0" "01695" "ABCA4_001842" "g.94496613del" "" "Prevention Genetics" "" "c.4193delG p.Gly1398Alafs*6 het" "" "Unknown" "" "" "0" "" "" "g.94031057del" "" "pathogenic (recessive)" ""
"0000772436" "0" "50" "1" "94566756" "94566756" "subst" "0" "01695" "ABCA4_002195" "g.94566756C>G" "" "Prevention Genetics" "" "c.570+1815G>C Intronic het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94101200C>G" "" "VUS" ""
"0000772437" "0" "70" "1" "94471055" "94471055" "subst" "0.00035346" "01695" "ABCA4_000029" "g.94471055C>T" "" "Prevention Genetics" "" "c.6089G>A p.Arg2030Gln het" "" "Unknown" "" "" "0" "" "" "g.94005499C>T" "" "likely pathogenic (recessive)" ""
"0000772438" "0" "90" "1" "94508384" "94508384" "subst" "0" "01695" "ABCA4_000641" "g.94508384T>G" "" "Prevention Genetics" "" "c.3261A>C p.Glu1087Asp Het" "" "Unknown" "" "" "0" "" "" "g.94042828T>G" "" "pathogenic (recessive)" ""
"0000772439" "0" "50" "1" "94543268" "94543268" "subst" "0.000778106" "01695" "ABCA4_000306" "g.94543268C>T" "" "Prevention Genetics" "" "c.1532G>A p.Arg511His het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94077712C>T" "" "VUS" ""
"0000772440" "0" "50" "1" "94568686" "94568686" "subst" "0.00258122" "01695" "ABCA4_000212" "g.94568686C>T" "" "Prevention Genetics" "" "c.455G>A p.Arg152Gln het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94103130C>T" "" "VUS" ""
"0000772441" "0" "70" "1" "94490567" "94490567" "subst" "5.68528E-5" "01695" "ABCA4_000026" "g.94490567G>A" "" "Prevention Genetics" "" "c.4577C>T p.Thr1526Met het" "" "Unknown" "" "" "0" "" "" "g.94025011G>A" "" "likely pathogenic (recessive)" ""
"0000772442" "0" "70" "1" "94568630" "94568630" "subst" "4.06065E-6" "01695" "ABCA4_002202" "g.94568630T>A" "" "Prevention Genetics" "" "c.511A>T p.Ile171Phe Het" "" "Unknown" "" "" "0" "" "" "g.94103074T>A" "" "likely pathogenic (recessive)" ""
"0000772443" "0" "70" "1" "94528702" "94528702" "subst" "1.62468E-5" "01695" "ABCA4_000293" "g.94528702C>G" "" "Prevention Genetics" "" "c.1726G>C p.Asp576His Het" "" "Unknown" "" "" "0" "" "" "g.94063146C>G" "" "likely pathogenic (recessive)" ""
"0000772444" "0" "70" "1" "94502859" "94502859" "subst" "8.13206E-6" "01695" "ABCA4_000602" "g.94502859C>G" "" "Prevention Genetics" "" "c.3655G>C p.Ala1219Pro het" "" "Unknown" "" "" "0" "" "" "g.94037303C>G" "" "likely pathogenic (recessive)" ""
"0000772445" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "Prevention Genetics" "" "c.5882G>A p.Gly1961Glu het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000772446" "0" "50" "1" "94483979" "94483979" "subst" "0" "01695" "ABCA4_000018" "g.94483979C>T" "" "Prevention Genetics" "" "c.5196+1159G>A Intronic Het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94018423C>T" "" "VUS" ""
"0000772447" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "Prevention Genetics" "" "c.1622T>C p.Leu541Pro Het" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000772448" "0" "90" "1" "94480098" "94480098" "subst" "0" "01695" "ABCA4_000437" "g.94480098C>T" "" "Prevention Genetics" "" "c.5460+1G>A Splicing Het" "" "Unknown" "" "" "0" "" "" "g.94014542C>T" "" "pathogenic (recessive)" ""
"0000772449" "0" "50" "1" "94568627" "94568627" "subst" "0.000422314" "01695" "ABCA4_000207" "g.94568627C>T" "" "Prevention Genetics" "" "c.514G>A p.Gly172Ser Het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94103071C>T" "" "VUS" ""
"0000772450" "0" "50" "1" "94487404" "94487404" "subst" "0.00244055" "01695" "ABCA4_000497" "g.94487404C>T" "" "Prevention Genetics" "" "c.4771G>A p.Gly1591Arg het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94021848C>T" "" "VUS" ""
"0000772451" "0" "50" "1" "94487404" "94487404" "subst" "0.00244055" "01695" "ABCA4_000497" "g.94487404C>T" "" "Prevention Genetics" "" "c.4771G>A p.Gly1591Arg het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94021848C>T" "" "VUS" ""
"0000772452" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "Prevention Genetics" "" "c.1622T>C p.Leu541Pro het" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000772453" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "Prevention Genetics" "" "c.1622T>C p.Leu541Pro Het" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000772454" "0" "50" "1" "94564451" "94564451" "subst" "0.000150413" "01695" "ABCA4_000378" "g.94564451T>G" "" "Prevention Genetics" "" "c.667A>C p.Lys223Gln Het" "" "Unknown" "" "" "0" "" "" "g.94098895T>G" "" "VUS" ""
"0000772455" "0" "50" "1" "94543389" "94543389" "subst" "0.000861235" "01695" "ABCA4_000312" "g.94543389C>T" "" "Prevention Genetics" "" "c.1411G>A p.Glu471Lys Het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94077833C>T" "" "VUS" ""
"0000772456" "0" "50" "1" "94467548" "94467548" "subst" "0.00295661" "01695" "ABCA4_000788" "g.94467548C>G" "" "Prevention Genetics" "" "c.6148G>C p.Val2050Leu Het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94001992C>G" "" "VUS" ""
"0000772457" "3" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "Prevention Genetics" "" "c.5603A>T p.Asn1868Ile HOM" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000772458" "0" "90" "1" "94506960" "94506960" "subst" "0" "01695" "ABCA4_000629" "g.94506960T>C" "" "Prevention Genetics" "" "c.3329-2A>G Splicing Het" "" "Unknown" "" "" "0" "" "" "g.94041404T>C" "" "pathogenic (recessive)" ""
"0000772459" "0" "50" "1" "94528138" "94528138" "subst" "0.000833801" "01695" "ABCA4_000932" "g.94528138G>A" "" "Prevention Genetics" "" "c.1932C>T p.Asp644Asp Het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94062582G>A" "" "VUS" ""
"0000772460" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "Prevention Genetics" "" "c.2588G>C p.Gly863Ala het" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000772461" "0" "90" "1" "94510248" "94510248" "subst" "0.000544123" "01695" "ABCA4_000107" "g.94510248C>G" "" "Prevention Genetics" "" "c.2971G>C p.Gly991Arg Het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94044692C>G" "" "pathogenic (recessive)" ""
"0000772462" "0" "70" "1" "94508383" "94508383" "subst" "0" "01695" "ABCA4_001931" "g.94508383G>A" "" "Prevention Genetics" "" "c.3262C>T p.Pro1088Ser het" "" "Unknown" "" "" "0" "" "" "g.94042827G>A" "" "likely pathogenic (recessive)" ""
"0000772463" "0" "50" "1" "94512602" "94512602" "subst" "0.000369717" "01695" "ABCA4_000052" "g.94512602C>T" "" "Prevention Genetics" "" "c.2791G>A p.Val931Met Het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94047046C>T" "" "VUS" ""
"0000772464" "0" "90" "1" "94485137" "94485137" "subst" "0" "01695" "ABCA4_000464" "g.94485137C>T" "" "Prevention Genetics" "" "c.5196+1G>A Splicing het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94019581C>T" "" "pathogenic (recessive)" ""
"0000772465" "0" "50" "1" "94543300" "94543300" "subst" "0.000682782" "01695" "ABCA4_000935" "g.94543300C>T" "" "Prevention Genetics" "" "c.1500G>A p.Arg500Arg Het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94077744C>T" "" "VUS" ""
"0000772466" "0" "50" "1" "94466465" "94466465" "subst" "0" "01695" "ABCA4_001576" "g.94466465G>A" "" "Prevention Genetics" "" "c.6406C>T p.Leu2136Leu Het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94000909G>A" "" "VUS" ""
"0000772467" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "Prevention Genetics" "" "c.5461-10T>C Intronic Het" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000772468" "0" "50" "1" "94543389" "94543389" "subst" "0.000861235" "01695" "ABCA4_000312" "g.94543389C>T" "" "Prevention Genetics" "" "c.1411G>A p.Glu471Lys Het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94077833C>T" "" "VUS" ""
"0000772469" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "" "Prevention Genetics" "" "c.3322C>T p.Arg1108Cys Het" "" "Unknown" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000772470" "0" "50" "1" "94487490" "94487490" "subst" "0.00122268" "01695" "ABCA4_000506" "g.94487490A>G" "" "Prevention Genetics" "" "c.4685T>C p.Ile1562Thr Het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94021934A>G" "" "VUS" ""
"0000772471" "0" "50" "1" "94568686" "94568686" "subst" "0.00258122" "01695" "ABCA4_000212" "g.94568686C>T" "" "Prevention Genetics" "" "c.455G>A p.Arg152Gln Het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94103130C>T" "" "VUS" ""
"0000772472" "0" "70" "1" "94528818" "94528818" "subst" "0.00205975" "01695" "ABCA4_001239" "g.94528818C>T" "" "Prevention Genetics" "" "c.1610G>A p.Arg537His Het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94063262C>T" "" "likely pathogenic (recessive)" ""
"0000772473" "0" "50" "1" "94574258" "94574258" "subst" "0.00115728" "01695" "ABCA4_001132" "g.94574258T>A" "" "Prevention Genetics" "" "c.317A>T p.Tyr106Phe Het" "" "Unknown" "" "" "0" "" "" "g.94108702T>A" "" "VUS" ""
"0000772474" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "Prevention Genetics" "" "c.5882G>A p.Gly1961Glu Het" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000772475" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "" "Prevention Genetics" "" "c.6079C>T p.Leu2027Phe het" "" "Unknown" "" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic (recessive)" ""
"0000772476" "0" "90" "1" "94495009" "94495009" "del" "0" "01695" "ABCA4_000534" "g.94495009del" "" "Prevention Genetics" "" "c.4537delC p.Gln1513Argfs*13 het" "" "Unknown" "" "" "0" "" "" "g.94029453del" "" "pathogenic (recessive)" ""
"0000772477" "0" "70" "1" "94495078" "94495078" "subst" "8.37044E-6" "01695" "ABCA4_000042" "g.94495078A>G" "" "Prevention Genetics" "" "c.4462T>C p.Cys1488Arg het" "" "Unknown" "" "" "0" "" "" "g.94029522A>G" "" "likely pathogenic (recessive)" ""
"0000772478" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "Prevention Genetics" "" "c.5461-10T>C Intronic Het" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000772479" "0" "70" "1" "94564500" "94564500" "subst" "0.00100414" "01695" "ABCA4_000069" "g.94564500G>C" "" "Prevention Genetics" "" "c.618C>G p.Ser206Arg Het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94098944G>C" "" "likely pathogenic (recessive)" ""
"0000772480" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "" "Prevention Genetics" "" "c.3322C>T p.Arg1108Cys het" "" "Unknown" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000772481" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "Prevention Genetics" "" "c.5461-10T>C Intronic het" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000772482" "0" "90" "1" "94574256" "94574256" "subst" "2.8425E-5" "01695" "ABCA4_000040" "g.94574256G>A" "" "Prevention Genetics" "" "c.319C>T p.Arg107* het" "" "Unknown" "" "" "0" "" "" "g.94108700G>A" "" "pathogenic (recessive)" ""
"0000772483" "3" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "Prevention Genetics" "" "c.5882G>A p.Gly1961Glu hom" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000772484" "0" "70" "1" "94506923" "94506923" "subst" "2.43657E-5" "01695" "ABCA4_000012" "g.94506923C>T" "" "Prevention Genetics" "" "c.3364G>A p.Glu1122Lys het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94041367C>T" "" "likely pathogenic (recessive)" ""
"0000772485" "0" "30" "1" "94517266" "94517266" "subst" "0.00217349" "01695" "ABCA4_001057" "g.94517266G>C" "" "Prevention Genetics" "" "c.2588-12C>G Intronic Het" "" "Unknown" "" "" "0" "" "" "g.94051710G>C" "" "likely benign" ""
"0000772486" "0" "30" "1" "94481300" "94481300" "subst" "0.000150628" "01695" "ABCA4_001706" "g.94481300C>G" "" "Prevention Genetics" "" "c.5307G>C p.Leu1769Leu het" "" "Unknown" "" "" "0" "" "" "g.94015744C>G" "" "likely benign" ""
"0000772487" "0" "50" "1" "94514466" "94514466" "subst" "0.00192081" "01695" "ABCA4_000008" "g.94514466T>C" "" "Prevention Genetics" "" "c.2701A>G p.Thr901Ala Het" "" "Unknown" "" "" "0" "" "" "g.94048910T>C" "" "VUS" ""
"0000772488" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "Prevention Genetics" "" "c.5461-10T>C Intronic Het" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000772489" "3" "90" "1" "94577046" "94577049" "dup" "0" "01695" "ABCA4_000227" "g.94577046_94577049dup" "" "Prevention Genetics" "" "c.247_250dupCAAA p.Ser84Thrfs*16 Hom" "" "Unknown" "" "" "0" "" "" "g.94111490_94111493dup" "" "pathogenic (recessive)" ""
"0000772490" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "Prevention Genetics" "" "c.5461-10T>C Intronic Het" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000772491" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "Prevention Genetics" "" "c.5461-10T>C Intronic Het" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000772492" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "Prevention Genetics" "" "c.1622T>C p.Leu541Pro het" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000772493" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "Prevention Genetics" "" "c.5461-10T>C Intronic Het" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000772494" "0" "50" "1" "94548940" "94548940" "subst" "1.62624E-5" "01695" "ABCA4_002163" "g.94548940T>C" "" "Prevention Genetics" "" "c.826A>G p.Ile276Val Het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94083384T>C" "" "VUS" ""
"0000772495" "0" "50" "1" "94564404" "94564404" "subst" "0" "01695" "ABCA4_002179" "g.94564404C>T" "" "Prevention Genetics" "" "c.714G>A p.Gln238Gln Het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94098848C>T" "" "VUS" ""
"0000772496" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "Prevention Genetics" "" "c.5461-10T>C Intronic het" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000772497" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "Prevention Genetics" "" "c.2588G>C p.Gly863Ala het" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000772498" "0" "50" "1" "94496039" "94496039" "subst" "0.00157963" "01695" "ABCA4_000552" "g.94496039C>T" "" "Prevention Genetics" "" "c.4297G>A p.Val1433Ile Het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94030483C>T" "" "VUS" ""
"0000772499" "0" "90" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "" "Prevention Genetics" "" "c.6320G>A p.Arg2107His het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94001068C>T" "" "pathogenic (recessive)" ""
"0000772500" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "Prevention Genetics" "" "c.5882G>A p.Gly1961Glu Het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000772501" "0" "50" "1" "94506873" "94506873" "subst" "4.06085E-6" "01695" "ABCA4_001899" "g.94506873G>C" "" "Prevention Genetics" "" "c.3414C>G p.Leu1138Leu Het" "" "Unknown" "" "" "0" "" "" "g.94041317G>C" "" "VUS" ""
"0000772502" "0" "50" "1" "94514466" "94514466" "subst" "0.00192081" "01695" "ABCA4_000008" "g.94514466T>C" "" "Prevention Genetics" "" "c.2701A>G p.Thr901Ala Het" "" "Unknown" "" "" "0" "" "" "g.94048910T>C" "" "VUS" ""
"0000772503" "0" "90" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "" "Prevention Genetics" "" "c.6320G>A p.Arg2107His Het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94001068C>T" "" "pathogenic (recessive)" ""
"0000772504" "0" "30" "1" "94564522" "94564522" "subst" "0.000157718" "01695" "ABCA4_002193" "g.94564522G>A" "" "Prevention Genetics" "" "c.596C>T p.Ala199Val Het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94098966G>A" "" "likely benign" ""
"0000772505" "0" "70" "1" "94466627" "94466627" "subst" "4.06408E-6" "01695" "ABCA4_000867" "g.94466627C>T" "" "Prevention Genetics" "" "c.6317G>A p.Arg2106His Het" "" "Unknown" "" "" "0" "" "" "g.94001071C>T" "" "likely pathogenic (recessive)" ""
"0000772506" "0" "90" "1" "94510248" "94510248" "subst" "0.000544123" "01695" "ABCA4_000107" "g.94510248C>G" "" "Prevention Genetics" "" "c.2971G>C p.Gly991Arg Het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94044692C>G" "" "pathogenic (recessive)" ""
"0000772507" "0" "50" "1" "94528142" "94528142" "subst" "0.00153303" "01695" "ABCA4_000125" "g.94528142A>C" "" "Prevention Genetics" "" "c.1928T>G p.Val643Gly het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94062586A>C" "" "VUS" ""
"0000772508" "0" "50" "1" "94473287" "94473287" "subst" "0.00293818" "01695" "ABCA4_000395" "g.94473287G>A" "" "Prevention Genetics" "" "c.5908C>T p.Leu1970Phe Het" "" "Unknown" "" "" "0" "" "" "g.94007731G>A" "" "VUS" ""
"0000772509" "0" "70" "1" "94490550" "94490550" "subst" "0.000105588" "01695" "ABCA4_000523" "g.94490550C>T" "" "Prevention Genetics" "" "c.4594G>A p.Asp1532Asn het" "" "Unknown" "" "" "0" "" "" "g.94024994C>T" "" "likely pathogenic (recessive)" ""
"0000772510" "0" "50" "1" "94487490" "94487490" "subst" "0.00122268" "01695" "ABCA4_000506" "g.94487490A>G" "" "Prevention Genetics" "" "c.4685T>C p.Ile1562Thr Het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94021934A>G" "" "VUS" ""
"0000772511" "3" "70" "1" "94514424" "94514424" "subst" "4.06105E-6" "01695" "ABCA4_000972" "g.94514424C>T" "" "Prevention Genetics" "" "c.2743G>A p.Asp915Asn Hom" "" "Unknown" "" "" "0" "" "" "g.94048868C>T" "" "likely pathogenic (recessive)" ""
"0000772512" "0" "90" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "" "Prevention Genetics" "" "c.6320G>A p.Arg2107His Het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94001068C>T" "" "pathogenic (recessive)" ""
"0000772513" "0" "70" "1" "94577010" "94577010" "subst" "4.06679E-6" "01695" "ABCA4_000225" "g.94577010T>G" "" "Prevention Genetics" "" "c.286A>C p.Asn96His Het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94111454T>G" "" "likely pathogenic (recessive)" ""
"0000772514" "0" "70" "1" "94522272" "94522272" "subst" "6.92171E-5" "01695" "ABCA4_002045" "g.94522272G>A" "" "Prevention Genetics" "" "c.2267C>T p.Ser756Phe Het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94056716G>A" "" "likely pathogenic (recessive)" ""
"0000772515" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "Prevention Genetics" "" "c.5882G>A p.Gly1961Glu het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000772516" "0" "90" "1" "94473790" "94473790" "subst" "0" "01695" "ABCA4_000399" "g.94473790C>T" "" "Prevention Genetics" "" "c.5898+1G>A Splicing het" "" "Unknown" "" "" "0" "" "" "g.94008234C>T" "" "pathogenic (recessive)" ""
"0000772517" "0" "70" "1" "94546222" "94546222" "subst" "0" "01695" "ABCA4_002153" "g.94546222A>C" "" "Prevention Genetics" "" "c.911T>G p.Met304Arg Het" "" "Unknown" "" "" "0" "" "" "g.94080666A>C" "" "likely pathogenic (recessive)" ""
"0000772518" "0" "50" "1" "94467548" "94467548" "subst" "0.00295661" "01695" "ABCA4_000788" "g.94467548C>G" "" "Prevention Genetics" "" "c.6148G>C p.Val2050Leu Het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94001992C>G" "" "VUS" ""
"0000772519" "0" "50" "1" "94496665" "94496665" "subst" "3.25206E-5" "01695" "ABCA4_001220" "g.94496665C>T" "" "Prevention Genetics" "" "c.4140G>A p.Pro1380Pro Het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94031109C>T" "" "VUS" ""
"0000772520" "0" "50" "1" "94564451" "94564451" "subst" "0.000150413" "01695" "ABCA4_000378" "g.94564451T>G" "" "Prevention Genetics" "" "c.667A>C p.Lys223Gln Het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94098895T>G" "" "VUS" ""
"0000772521" "0" "50" "1" "94543268" "94543268" "subst" "0.000778106" "01695" "ABCA4_000306" "g.94543268C>T" "" "Prevention Genetics" "" "c.1532G>A p.Arg511His het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94077712C>T" "" "VUS" ""
"0000772522" "0" "50" "1" "94467548" "94467548" "subst" "0.00295661" "01695" "ABCA4_000788" "g.94467548C>G" "" "Prevention Genetics" "" "c.6148G>C p.Val2050Leu Het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94001992C>G" "" "VUS" ""
"0000772523" "0" "70" "1" "94506923" "94506923" "subst" "2.43657E-5" "01695" "ABCA4_000012" "g.94506923C>T" "" "Prevention Genetics" "" "c.3364G>A p.Glu1122Lys Het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94041367C>T" "" "likely pathogenic (recessive)" ""
"0000772524" "0" "50" "1" "94514466" "94514466" "subst" "0.00192081" "01695" "ABCA4_000008" "g.94514466T>C" "" "Prevention Genetics" "" "c.2701A>G p.Thr901Ala Het" "" "Unknown" "" "" "0" "" "" "g.94048910T>C" "" "VUS" ""
"0000772525" "0" "30" "1" "94528252" "94528252" "subst" "0.000256369" "01695" "ABCA4_002079" "g.94528252G>A" "" "Prevention Genetics" "" "c.1818C>T p.Gly606Gly Het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94062696G>A" "" "likely benign" ""
"0000772526" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "Prevention Genetics" "" "c.1622T>C p.Leu541Pro Het" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000772527" "0" "70" "1" "94546118" "94546118" "subst" "8.13326E-6" "01695" "ABCA4_000082" "g.94546118A>C" "" "Prevention Genetics" "" "c.1015T>G p.Trp339Gly het" "" "Unknown" "" "" "0" "" "" "g.94080562A>C" "" "likely pathogenic (recessive)" ""
"0000772528" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "Prevention Genetics" "" "c.2588G>C p.Gly863Ala Het" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000772529" "0" "90" "1" "94564383" "94564383" "subst" "0" "01695" "ABCA4_000371" "g.94564383A>C" "" "Prevention Genetics" "" "c.735T>G p.Tyr245* Het" "" "Unknown" "" "" "0" "" "" "g.94098827A>C" "" "pathogenic (recessive)" ""
"0000772530" "0" "50" "1" "94497318" "94497318" "subst" "0.000775308" "01695" "ABCA4_001846" "g.94497318C>T" "" "Prevention Genetics" "" "c.4128+16G>A Intronic het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94031762C>T" "" "VUS" ""
"0000772531" "0" "70" "1" "94520793" "94520793" "subst" "8.13292E-6" "01695" "ABCA4_000723" "g.94520793A>T" "" "Prevention Genetics" "" "c.2461T>A p.Trp821Arg het" "" "Unknown" "" "" "0" "" "" "g.94055237A>T" "" "likely pathogenic (recessive)" ""
"0000772532" "0" "50" "1" "94564544" "94564544" "subst" "0.000432798" "01695" "ABCA4_000383" "g.94564544C>T" "" "Prevention Genetics" "" "c.574G>A p.Ala192Thr Het" "" "Unknown" "" "" "0" "" "" "g.94098988C>T" "" "VUS" ""
"0000772533" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "Prevention Genetics" "" "c.5714+5G>A Intronic Het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000772534" "0" "70" "1" "94528253" "94528253" "subst" "8.13729E-6" "01695" "ABCA4_000767" "g.94528253C>T" "" "Prevention Genetics" "" "c.1817G>A p.Gly606Asp het" "" "Unknown" "" "" "0" "" "" "g.94062697C>T" "" "likely pathogenic (recessive)" ""
"0000772535" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "" "Prevention Genetics" "" "c.1804C>T p.Arg602Trp het" "" "Unknown" "" "" "0" "" "" "g.94062710G>A" "" "pathogenic (recessive)" ""
"0000772536" "0" "30" "1" "94564446" "94564446" "subst" "0.000629989" "01695" "ABCA4_002183" "g.94564446C>T" "" "Prevention Genetics" "" "c.672G>A p.Thr224Thr Het" "" "Unknown" "" "" "0" "" "" "g.94098890C>T" "" "likely benign" ""
"0000772537" "0" "50" "1" "94473287" "94473287" "subst" "0.00293818" "01695" "ABCA4_000395" "g.94473287G>A" "" "Prevention Genetics" "" "c.5908C>T p.Leu1970Phe Het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94007731G>A" "" "VUS" ""
"0000772538" "3" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "Prevention Genetics" "" "c.5461-10T>C Intronic hom" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000772539" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "Prevention Genetics" "" "c.5714+5G>A Intronic het" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000772540" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "Prevention Genetics" "" "c.5461-10T>C Intronic het" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000772541" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "Prevention Genetics" "" "c.5461-10T>C Intronic het" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000772542" "0" "50" "1" "94546104" "94546104" "subst" "0.00103684" "01695" "ABCA4_000941" "g.94546104A>G" "" "Prevention Genetics" "" "c.1029T>C p.Asn343Asn Het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94080548A>G" "" "VUS" ""
"0000772543" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "Prevention Genetics" "" "c.2588G>C p.Gly863Ala het" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000772544" "0" "70" "1" "94467475" "94467475" "subst" "1.62463E-5" "01695" "ABCA4_001599" "g.94467475C>T" "" "Prevention Genetics" "" "c.6221G>A p.Gly2074Asp het" "" "Unknown" "" "" "0" "" "" "g.94001919C>T" "" "likely pathogenic (recessive)" ""
"0000772545" "3" "90" "1" "94564428" "94564428" "subst" "4.06207E-6" "01695" "ABCA4_002181" "g.94564428G>T" "" "Prevention Genetics" "" "c.690C>A p.Cys230* hom" "" "Unknown" "" "" "0" "" "" "g.94098872G>T" "" "pathogenic (recessive)" ""
"0000772546" "0" "70" "1" "94485221" "94485221" "subst" "0" "01695" "ABCA4_000471" "g.94485221G>A" "" "Prevention Genetics" "" "c.5113C>T p.Arg1705Trp Het" "" "Unknown" "" "" "0" "" "" "g.94019665G>A" "" "likely pathogenic (recessive)" ""
"0000772547" "0" "70" "1" "94466422" "94466422" "subst" "2.43651E-5" "01695" "ABCA4_000817" "g.94466422C>T" "" "Prevention Genetics" "" "c.6449G>A p.Cys2150Tyr het" "" "Unknown" "" "" "0" "" "" "g.94000866C>T" "" "likely pathogenic (recessive)" ""
"0000772548" "0" "70" "1" "94528683" "94528683" "subst" "2.03095E-5" "01695" "ABCA4_002089" "g.94528683T>C" "" "Prevention Genetics" "" "c.1745A>G p.Asn582Ser het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94063127T>C" "" "likely pathogenic (recessive)" ""
"0000772549" "0" "50" "1" "94568627" "94568627" "subst" "0.000422314" "01695" "ABCA4_000207" "g.94568627C>T" "" "Prevention Genetics" "" "c.514G>A p.Gly172Ser Het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94103071C>T" "" "VUS" ""
"0000772550" "0" "90" "1" "94568687" "94568687" "subst" "1.62641E-5" "01695" "ABCA4_000024" "g.94568687G>A" "" "Prevention Genetics" "" "c.454C>T p.Arg152* het" "" "Unknown" "" "" "0" "" "" "g.94103131G>A" "" "pathogenic (recessive)" ""
"0000772551" "0" "70" "1" "94487481" "94487481" "subst" "0" "01695" "ABCA4_001766" "g.94487481T>C" "" "Prevention Genetics" "" "c.4694A>G p.Lys1565Arg Het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94021925T>C" "" "likely pathogenic (recessive)" ""
"0000772552" "0" "50" "1" "94544140" "94544141" "ins" "0.000938872" "01695" "ABCA4_001241" "g.94544140_94544141insG" "" "Prevention Genetics" "" "c.1356+5_1356+6insC Intronic Het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94078584_94078585insG" "" "VUS" ""
"0000772553" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "Prevention Genetics" "" "c.5882G>A p.Gly1961Glu het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000772554" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "Prevention Genetics" "" "c.3386G>T p.Arg1129Leu het" "" "Unknown" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000772555" "0" "50" "1" "94568686" "94568686" "subst" "0.00258122" "01695" "ABCA4_000212" "g.94568686C>T" "" "Prevention Genetics" "" "c.455G>A p.Arg152Gln Het" "" "Unknown" "" "" "0" "" "" "g.94103130C>T" "" "VUS" ""
"0000772556" "0" "70" "1" "94564500" "94564500" "subst" "0.00100414" "01695" "ABCA4_000069" "g.94564500G>C" "" "Prevention Genetics" "" "c.618C>G p.Ser206Arg Het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94098944G>C" "" "likely pathogenic (recessive)" ""
"0000772557" "0" "70" "1" "94564500" "94564500" "subst" "0.00100414" "01695" "ABCA4_000069" "g.94564500G>C" "" "Prevention Genetics" "" "c.618C>G p.Ser206Arg Het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94098944G>C" "" "likely pathogenic (recessive)" ""
"0000772558" "0" "50" "1" "94461770" "94461770" "subst" "0.000816533" "01695" "ABCA4_000952" "g.94461770C>T" "" "Prevention Genetics" "" "c.6730-19G>A Intronic Het" "" "Unknown" "" "" "0" "" "" "g.93996214C>T" "" "VUS" ""
"0000772559" "0" "50" "1" "94485257" "94485257" "subst" "0.00017945" "01695" "ABCA4_000100" "g.94485257C>T" "" "Prevention Genetics" "" "c.5077G>A p.Val1693Ile het" "" "Unknown" "" "" "0" "" "" "g.94019701C>T" "" "VUS" ""
"0000772560" "0" "50" "1" "94528142" "94528142" "subst" "0.00153303" "01695" "ABCA4_000125" "g.94528142A>C" "" "Prevention Genetics" "" "c.1928T>G p.Val643Gly Het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94062586A>C" "" "VUS" ""
"0000772561" "0" "70" "1" "94546207" "94546207" "subst" "0.000101665" "01695" "ABCA4_000083" "g.94546207G>C" "" "Prevention Genetics" "" "c.926C>G p.Pro309Arg Het" "" "Unknown" "" "" "0" "" "" "g.94080651G>C" "" "likely pathogenic (recessive)" ""
"0000772562" "0" "70" "1" "94486895" "94486895" "subst" "3.24923E-5" "01695" "ABCA4_000484" "g.94486895C>T" "" "Prevention Genetics" "" "c.4919G>A p.Arg1640Gln Het" "" "Unknown" "" "" "0" "" "" "g.94021339C>T" "" "likely pathogenic (recessive)" ""
"0000772563" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "Prevention Genetics" "" "c.5461-10T>C Intronic het" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000772564" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "Prevention Genetics" "" "c.5882G>A p.Gly1961Glu Het" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000772565" "0" "70" "1" "94564441" "94564441" "subst" "0.000219425" "01695" "ABCA4_000944" "g.94564441C>T" "" "Prevention Genetics" "" "c.677G>A p.Arg226Leu Het" "" "Unknown" "" "" "0" "" "" "g.94098885C>T" "" "likely pathogenic (recessive)" ""
"0000772566" "0" "50" "1" "94463648" "94463648" "subst" "0.00109246" "01695" "ABCA4_000876" "g.94463648G>A" "" "Prevention Genetics" "" "c.6498C>T p.Ile2166Ile Het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.93998092G>A" "" "VUS" ""
"0000772567" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "Prevention Genetics" "" "c.5461-10T>C Intronic Het" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000772568" "0" "50" "1" "94483979" "94483979" "subst" "0" "01695" "ABCA4_000018" "g.94483979C>T" "" "Prevention Genetics" "" "c.5196+1159G>A Intronic Het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94018423C>T" "" "VUS" ""
"0000772569" "0" "70" "1" "94508985" "94508985" "subst" "1.21906E-5" "01695" "ABCA4_001950" "g.94508985T>C" "" "Prevention Genetics" "" "c.3097A>G p.Lys1033Glu Het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94043429T>C" "" "likely pathogenic (recessive)" ""
"0000772570" "0" "50" "1" "94490587" "94490587" "subst" "2.03051E-5" "01695" "ABCA4_000901" "g.94490587C>T" "" "Prevention Genetics" "" "c.4557G>A p.Thr1519Thr Het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94025031C>T" "" "VUS" ""
"0000772571" "0" "50" "1" "94568686" "94568686" "subst" "0.00258122" "01695" "ABCA4_000212" "g.94568686C>T" "" "Prevention Genetics" "" "c.455G>A p.Arg152Gln Het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94103130C>T" "" "VUS" ""
"0000772572" "0" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "" "Prevention Genetics" "" "c.4469G>A p.Cys1490Tyr het" "" "Unknown" "" "" "0" "" "" "g.94029515C>T" "" "likely pathogenic (recessive)" ""
"0000772573" "0" "50" "1" "94528774" "94528774" "subst" "0.00264827" "01695" "ABCA4_000298" "g.94528774C>T" "" "Prevention Genetics" "" "c.1654G>A p.Val552Ile Het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94063218C>T" "" "VUS" ""
"0000772574" "0" "50" "1" "94522185" "94522185" "subst" "8.14027E-6" "01695" "ABCA4_002035" "g.94522185C>A" "" "Prevention Genetics" "" "c.2354G>T p.Arg785Leu Het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94056629C>A" "" "VUS" ""
"0000772575" "0" "50" "1" "94549000" "94549000" "subst" "0.000517603" "01695" "ABCA4_001438" "g.94549000G>A" "" "Prevention Genetics" "" "c.769-3C>T Intronic Het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94083444G>A" "" "VUS" ""
"0000772576" "0" "50" "1" "94487404" "94487404" "subst" "0.00244055" "01695" "ABCA4_000497" "g.94487404C>T" "" "Prevention Genetics" "" "c.4771G>A p.Gly1591Arg Het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94021848C>T" "" "VUS" ""
"0000772577" "0" "50" "1" "94476377" "94476377" "subst" "0.00160473" "01695" "ABCA4_000411" "g.94476377C>T" "" "Prevention Genetics" "" "c.5693G>A p.Arg1898His Het" "" "Unknown" "" "" "0" "" "" "g.94010821C>T" "" "VUS" ""
"0000772578" "0" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "" "Prevention Genetics" "" "c.4469G>A p.Cys1490Tyr Het" "" "Unknown" "" "" "0" "" "" "g.94029515C>T" "" "likely pathogenic (recessive)" ""
"0000772579" "0" "90" "1" "94508316" "94510301" "del" "0" "01695" "ABCA4_000041" "g.(94506959_94508316)_(94510301_94512474)del" "" "Prevention Genetics" "" "x20-22 Deletion CNV het" "" "Unknown" "" "" "0" "" "" "g.(94041403_94042760)_(94044745_94046918)del" "" "pathogenic (recessive)" ""
"0000772580" "0" "50" "1" "94586569" "94586569" "subst" "0" "01695" "ABCA4_002251" "g.94586569G>A" "" "Prevention Genetics" "" "c.33C>T p.Leu11Leu Het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94121013G>A" "" "VUS" ""
"0000772581" "0" "90" "1" "94508456" "94508456" "subst" "4.0621E-6" "01695" "ABCA4_000650" "g.94508456T>C" "" "Prevention Genetics" "" "c.3191-2A>G Splicing Het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94042900T>C" "" "pathogenic (recessive)" ""
"0000772582" "0" "50" "1" "94546104" "94546104" "subst" "0.00103684" "01695" "ABCA4_000941" "g.94546104A>G" "" "Prevention Genetics" "" "c.1029T>C p.Asn343Asn Het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94080548A>G" "" "VUS" ""
"0000772583" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "Prevention Genetics" "" "c.2588G>C p.Gly863Ala Het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000772584" "0" "50" "1" "94495074" "94495074" "subst" "2.53301E-5" "01695" "ABCA4_001810" "g.94495074C>T" "" "Prevention Genetics" "" "c.4466G>A p.Arg1489Lys Het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94029518C>T" "" "VUS" ""
"0000772585" "0" "90" "1" "94548932" "94548932" "del" "4.06587E-6" "01695" "ABCA4_001022" "g.94548932del" "" "Prevention Genetics" "" "c.834delT p.Asp279Ilefs*21 Het" "" "Unknown" "" "" "0" "" "" "g.94083376del" "" "pathogenic (recessive)" ""
"0000772586" "0" "90" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "" "Prevention Genetics" "" "c.634C>T p.Arg212Cys Het" "" "Unknown" "" "" "0" "" "" "g.94098928G>A" "" "pathogenic (recessive)" ""
"0000772587" "0" "50" "1" "94467548" "94467548" "subst" "0.00295661" "01695" "ABCA4_000788" "g.94467548C>G" "" "Prevention Genetics" "" "c.6148G>C p.Val2050Leu Het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94001992C>G" "" "VUS" ""
"0000772588" "0" "70" "1" "94493000" "94493000" "subst" "0" "01695" "ABCA4_000015" "g.94493000C>T" "" "Prevention Genetics" "" "c.4539+2001G>A Intronic het" "" "Unknown" "" "" "0" "" "" "g.94027444C>T" "" "likely pathogenic (recessive)" ""
"0000772589" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "Prevention Genetics" "" "c.5882G>A p.Gly1961Glu het" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000772590" "0" "50" "1" "94463428" "94463428" "subst" "1.62621E-5" "01695" "ABCA4_000854" "g.94463428T>C" "" "Prevention Genetics" "" "c.6718A>G p.Thr2240Ala Het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.93997872T>C" "" "VUS" ""
"0000772591" "0" "50" "1" "94568675" "94568675" "subst" "0.00146249" "01695" "ABCA4_000210" "g.94568675T>C" "" "Prevention Genetics" "" "c.466A>G p.Ile156Val Het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94103119T>C" "" "VUS" ""
"0000772592" "0" "70" "1" "94471058" "94471058" "subst" "0" "01695" "ABCA4_001625" "g.94471058C>A" "" "Prevention Genetics" "" "c.6086G>T p.Gly2029Val Het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94005502C>A" "" "likely pathogenic (recessive)" ""
"0000772593" "0" "50" "1" "94487404" "94487404" "subst" "0.00244055" "01695" "ABCA4_000497" "g.94487404C>T" "" "Prevention Genetics" "" "c.4771G>A p.Gly1591Arg Het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94021848C>T" "" "VUS" ""
"0000772594" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "Prevention Genetics" "" "c.5882G>A p.Gly1961Glu Het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000772595" "0" "90" "1" "94568687" "94568687" "subst" "1.62641E-5" "01695" "ABCA4_000024" "g.94568687G>A" "" "Prevention Genetics" "" "c.454C>T p.Arg152* Het" "" "Unknown" "" "" "0" "" "" "g.94103131G>A" "" "pathogenic (recessive)" ""
"0000772596" "0" "70" "1" "94520801" "94520801" "subst" "0.000211489" "01695" "ABCA4_000724" "g.94520801C>T" "" "Prevention Genetics" "" "c.2453G>A p.Gly818Glu Het" "" "Unknown" "" "" "0" "" "" "g.94055245C>T" "" "likely pathogenic (recessive)" ""
"0000772597" "0" "50" "1" "94528774" "94528774" "subst" "0.00264827" "01695" "ABCA4_000298" "g.94528774C>T" "" "Prevention Genetics" "" "c.1654G>A p.Val552Ile Het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94063218C>T" "" "VUS" ""
"0000772598" "0" "50" "1" "94514477" "94514477" "subst" "0.00118992" "01695" "ABCA4_000700" "g.94514477G>A" "" "Prevention Genetics" "" "c.2690C>T p.Thr897Ile Het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94048921G>A" "" "VUS" ""
"0000772599" "0" "70" "1" "94480230" "94480230" "subst" "6.09177E-5" "01695" "ABCA4_001053" "g.94480230T>A" "" "Prevention Genetics" "" "c.5329A>T p.Met1777Leu Het" "" "Unknown" "" "" "0" "" "" "g.94014674T>A" "" "likely pathogenic (recessive)" ""
"0000772600" "0" "50" "1" "94502759" "94502759" "subst" "2.03143E-5" "01695" "ABCA4_001875" "g.94502759T>A" "" "Prevention Genetics" "" "c.3755A>T p.Glu1252Val Het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94037203T>A" "" "VUS" ""
"0000772601" "0" "70" "1" "94502906" "94502906" "subst" "0.000314086" "01695" "ABCA4_000605" "g.94502906C>T" "" "Prevention Genetics" "" "c.3608G>A p.Gly1203Glu Het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94037350C>T" "" "likely pathogenic (recessive)" ""
"0000772602" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "" "Prevention Genetics" "" "c.1804C>T p.Arg602Trp het" "" "Unknown" "" "" "0" "" "" "g.94062710G>A" "" "pathogenic (recessive)" ""
"0000772603" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "Prevention Genetics" "" "c.2588G>C p.Gly863Ala het" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000772604" "3" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "Prevention Genetics" "" "c.5603A>T p.Asn1868Ile hom" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000772605" "0" "30" "1" "94564522" "94564522" "subst" "0.000157718" "01695" "ABCA4_002193" "g.94564522G>A" "" "Prevention Genetics" "" "c.596C>T p.Ala199Val Het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94098966G>A" "" "likely benign" ""
"0000772606" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "Prevention Genetics" "" "c.2588G>C p.Gly863Ala Het" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000772607" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "Prevention Genetics" "" "c.5882G>A p.Gly1961Glu Het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000772608" "0" "50" "1" "94514466" "94514466" "subst" "0.00192081" "01695" "ABCA4_000008" "g.94514466T>C" "" "Prevention Genetics" "" "c.2701A>G p.Thr901Ala Het" "" "Unknown" "" "" "0" "" "" "g.94048910T>C" "" "VUS" ""
"0000772609" "0" "50" "1" "94463648" "94463648" "subst" "0.00109246" "01695" "ABCA4_000876" "g.94463648G>A" "" "Prevention Genetics" "" "c.6498C>T p.Ile2166Ile Het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.93998092G>A" "" "VUS" ""
"0000772610" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "Prevention Genetics" "" "c.3113C>T p.Ala1038Val Het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000772611" "0" "50" "1" "94473287" "94473287" "subst" "0.00293818" "01695" "ABCA4_000395" "g.94473287G>A" "" "Prevention Genetics" "" "c.5908C>T p.Leu1970Phe Het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94007731G>A" "" "VUS" ""
"0000772612" "0" "50" "1" "94568577" "94568577" "subst" "0" "01695" "ABCA4_002199" "g.94568577T>G" "" "Prevention Genetics" "" "c.564A>C p.Pro188Pro Het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94103021T>G" "" "VUS" ""
"0000772613" "0" "50" "1" "94528792" "94528792" "subst" "3.24942E-5" "01695" "ABCA4_002100" "g.94528792T>G" "" "Prevention Genetics" "" "c.1636A>C p.Met546Leu Het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94063236T>G" "" "VUS" ""
"0000772614" "3" "50" "1" "94467548" "94467548" "subst" "0.00295661" "01695" "ABCA4_000788" "g.94467548C>G" "" "Prevention Genetics" "" "c.6148G>C p.Val2050Leu Hom" "" "Unknown" "" "" "0" "" "" "g.94001992C>G" "" "VUS" ""
"0000772615" "0" "50" "1" "94510288" "94510288" "subst" "6.09102E-5" "01695" "ABCA4_001970" "g.94510288C>T" "" "Prevention Genetics" "" "c.2931G>A p.Thr977Thr Het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94044732C>T" "" "VUS" ""
"0000772616" "0" "70" "1" "94528265" "94528265" "subst" "2.44212E-5" "01695" "ABCA4_000284" "g.94528265C>T" "" "Prevention Genetics" "" "c.1805G>A p.Arg602Gln Het" "" "Unknown" "" "" "0" "" "" "g.94062709C>T" "" "likely pathogenic (recessive)" ""
"0000772617" "0" "90" "1" "94510248" "94510248" "subst" "0.000544123" "01695" "ABCA4_000107" "g.94510248C>G" "" "Prevention Genetics" "" "c.2971G>C p.Gly991Arg Het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94044692C>G" "" "pathogenic (recessive)" ""
"0000772618" "0" "30" "1" "94528775" "94528775" "subst" "0.000528009" "01695" "ABCA4_001263" "g.94528775C>T" "" "Prevention Genetics" "" "c.1653G>A p.Val551Val Het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94063219C>T" "" "likely benign" ""
"0000772619" "0" "70" "1" "94520801" "94520801" "subst" "0.000211489" "01695" "ABCA4_000724" "g.94520801C>T" "" "Prevention Genetics" "" "c.2453G>A p.Gly818Glu het" "" "Unknown" "" "" "0" "" "" "g.94055245C>T" "" "likely pathogenic (recessive)" ""
"0000772620" "0" "70" "1" "94502844" "94502844" "subst" "1.21954E-5" "01695" "ABCA4_001880" "g.94502844A>C" "" "Prevention Genetics" "" "c.3670T>G p.Cys1224Gly het" "" "Unknown" "" "" "0" "" "" "g.94037288A>C" "" "likely pathogenic (recessive)" ""
"0000772621" "0" "50" "1" "94496039" "94496039" "subst" "0.00157963" "01695" "ABCA4_000552" "g.94496039C>T" "" "Prevention Genetics" "" "c.4297G>A p.Val1433Ile Het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94030483C>T" "" "VUS" ""
"0000772622" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "Prevention Genetics" "" "c.2588G>C p.Gly863Ala Het" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000772623" "0" "70" "1" "94502318" "94502323" "del" "0" "01695" "ABCA4_000591" "g.94502318_94502323del" "" "Prevention Genetics" "" "c.3840_3845del6 p.Asp1281_Ser1282del Het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94036762_94036767del" "" "likely pathogenic (recessive)" ""
"0000772624" "0" "50" "1" "94546104" "94546104" "subst" "0.00103684" "01695" "ABCA4_000941" "g.94546104A>G" "" "Prevention Genetics" "" "c.1029T>C p.Asn343Asn Het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94080548A>G" "" "VUS" ""
"0000772625" "0" "50" "1" "94490566" "94490566" "subst" "0.000142132" "01695" "ABCA4_001787" "g.94490566C>T" "" "Prevention Genetics" "" "c.4578G>A p.Thr1526Thr Het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94025010C>T" "" "VUS" ""
"0000772626" "0" "90" "1" "94508386" "94508386" "subst" "1.62443E-5" "01695" "ABCA4_000642" "g.94508386C>T" "" "Prevention Genetics" "" "c.3259G>A p.Glu1087Lys het" "" "Unknown" "" "" "0" "" "" "g.94042830C>T" "" "pathogenic (recessive)" ""
"0000772627" "0" "50" "1" "94546104" "94546104" "subst" "0.00103684" "01695" "ABCA4_000941" "g.94546104A>G" "" "Prevention Genetics" "" "c.1029T>C p.Asn343Asn Het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94080548A>G" "" "VUS" ""
"0000772628" "0" "70" "1" "94487251" "94487251" "subst" "2.85679E-5" "01695" "ABCA4_000490" "g.94487251G>T" "" "Prevention Genetics" "" "c.4793C>A p.Ala1598Asp Het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94021695G>T" "" "likely pathogenic (recessive)" ""
"0000772629" "0" "70" "1" "94548994" "94548994" "subst" "6.10411E-5" "01695" "ABCA4_002165" "g.94548994G>A" "" "Prevention Genetics" "" "c.772C>T p.Pro258Ser Het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94083438G>A" "" "likely pathogenic (recessive)" ""
"0000772630" "0" "90" "1" "94510248" "94510248" "subst" "0.000544123" "01695" "ABCA4_000107" "g.94510248C>G" "" "Prevention Genetics" "" "c.2971G>C p.Gly991Arg Het" "" "Unknown" "" "" "0" "" "" "g.94044692C>G" "" "pathogenic (recessive)" ""
"0000772631" "0" "70" "1" "94502318" "94502323" "del" "0" "01695" "ABCA4_000591" "g.94502318_94502323del" "" "Prevention Genetics" "" "c.3840_3845del6 p.Asp1281_Ser1282del Het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94036762_94036767del" "" "likely pathogenic (recessive)" ""
"0000772632" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "Prevention Genetics" "" "c.1622T>C p.Leu541Pro Het" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000772633" "0" "50" "1" "94568686" "94568686" "subst" "0.00258122" "01695" "ABCA4_000212" "g.94568686C>T" "" "Prevention Genetics" "" "c.455G>A p.Arg152Gln Het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94103130C>T" "" "VUS" ""
"0000772634" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "Prevention Genetics" "" "c.2588G>C p.Gly863Ala Het" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000772635" "0" "50" "1" "94487404" "94487404" "subst" "0.00244055" "01695" "ABCA4_000497" "g.94487404C>T" "" "Prevention Genetics" "" "c.4771G>A p.Gly1591Arg Het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94021848C>T" "" "VUS" ""
"0000772636" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "Prevention Genetics" "" "c.5461-10T>C Intronic Het" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000772637" "0" "30" "1" "94490533" "94490533" "subst" "0.00112903" "01695" "ABCA4_000900" "g.94490533C>T" "" "Prevention Genetics" "" "c.4611G>A p.Thr1537Thr Het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94024977C>T" "" "likely benign" ""
"0000772638" "0" "50" "1" "94526126" "94526126" "subst" "1.21932E-5" "01695" "ABCA4_002053" "g.94526126C>T" "" "Prevention Genetics" "" "c.2127G>A p.Ser709Ser Het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94060570C>T" "" "VUS" ""
"0000772639" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "Prevention Genetics" "" "c.5882G>A p.Gly1961Glu Het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000772640" "0" "50" "1" "94487404" "94487404" "subst" "0.00244055" "01695" "ABCA4_000497" "g.94487404C>T" "" "Prevention Genetics" "" "c.4771G>A p.Gly1591Arg Het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94021848C>T" "" "VUS" ""
"0000772641" "0" "90" "1" "94508435" "94508436" "dup" "0" "01695" "ABCA4_000998" "g.94508435_94508436dup" "" "Prevention Genetics" "" "c.3210_3211dupGT p.Ser1071Cysfs*14 het" "" "Unknown" "" "" "0" "" "" "g.94042879_94042880dup" "" "pathogenic (recessive)" ""
"0000772642" "0" "70" "1" "94467475" "94467475" "subst" "3.65542E-5" "01695" "ABCA4_000171" "g.94467475C>A" "" "Prevention Genetics" "" "c.6221G>T p.Gly2074Val het" "" "Unknown" "" "" "0" "" "" "g.94001919C>A" "" "likely pathogenic (recessive)" ""
"0000772643" "0" "90" "1" "94528714" "94528714" "subst" "0" "01695" "ABCA4_000296" "g.94528714G>A" "" "Prevention Genetics" "" "c.1714C>T p.Arg572* het" "" "Unknown" "" "" "0" "" "" "g.94063158G>A" "" "pathogenic (recessive)" ""
"0000772644" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "Prevention Genetics" "" "c.2588G>C p.Gly863Ala het" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000772645" "0" "90" "1" "94508316" "94508316" "subst" "0" "01695" "ABCA4_001918" "g.94508316C>T" "" "Prevention Genetics" "" "c.3328+1G>A Splicing het" "" "Unknown" "" "" "0" "" "" "g.94042760C>T" "" "pathogenic (recessive)" ""
"0000772646" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "Prevention Genetics" "" "c.5714+5G>A Intronic het" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000772647" "0" "70" "1" "94461733" "94461733" "subst" "8.12995E-6" "01695" "ABCA4_001561" "g.94461733T>C" "" "Prevention Genetics" "" "c.6748A>G p.Lys2250Glu het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.93996177T>C" "" "likely pathogenic (recessive)" ""
"0000772648" "0" "70" "1" "94577135" "94577135" "subst" "2.43718E-5" "01695" "ABCA4_000240" "g.94577135C>T" "" "Prevention Genetics" "" "c.161G>A p.Cys54Tyr het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94111579C>T" "" "likely pathogenic (recessive)" ""
"0000772649" "0" "50" "1" "94467548" "94467548" "subst" "0.00295661" "01695" "ABCA4_000788" "g.94467548C>G" "" "Prevention Genetics" "" "c.6148G>C p.Val2050Leu Het" "" "Unknown" "" "" "0" "" "" "g.94001992C>G" "" "VUS" ""
"0000772650" "0" "90" "1" "94508315" "94508315" "subst" "0" "01695" "ABCA4_001917" "g.94508315A>T" "" "Prevention Genetics" "" "c.3328+2T>A Splicing het" "" "Unknown" "" "" "0" "" "" "g.94042759A>T" "" "pathogenic (recessive)" ""
"0000772651" "0" "50" "1" "94568675" "94568675" "subst" "0.00146249" "01695" "ABCA4_000210" "g.94568675T>C" "" "Prevention Genetics" "" "c.466A>G p.Ile156Val Het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94103119T>C" "" "VUS" ""
"0000772652" "0" "50" "1" "94528142" "94528142" "subst" "0.00153303" "01695" "ABCA4_000125" "g.94528142A>C" "" "Prevention Genetics" "" "c.1928T>G p.Val643Gly Het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94062586A>C" "" "VUS" ""
"0000772653" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "Prevention Genetics" "" "c.5714+5G>A Intronic het" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000772654" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "Prevention Genetics" "" "c.5882G>A p.Gly1961Glu het" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000772655" "0" "50" "1" "94543300" "94543300" "subst" "0.000682782" "01695" "ABCA4_000935" "g.94543300C>T" "" "Prevention Genetics" "" "c.1500G>A p.Arg500Arg Het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94077744C>T" "" "VUS" ""
"0000772656" "0" "70" "1" "94490588" "94490588" "subst" "6.90361E-5" "01695" "ABCA4_001498" "g.94490588G>A" "" "Prevention Genetics" "" "c.4556C>T p.Thr1519Met Het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94025032G>A" "" "likely pathogenic (recessive)" ""
"0000772657" "0" "50" "1" "94508432" "94508432" "subst" "0.000138077" "01695" "ABCA4_001226" "g.94508432C>T" "" "Prevention Genetics" "" "c.3213G>A p.Ser1071Ser Het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94042876C>T" "" "VUS" ""
"0000772658" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "" "Prevention Genetics" "" "c.3322C>T p.Arg1108Cys het" "" "Unknown" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000772659" "0" "90" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "" "Prevention Genetics" "" "c.6320G>A p.Arg2107His Het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94001068C>T" "" "pathogenic (recessive)" ""
"0000772660" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "Prevention Genetics" "" "c.2588G>C p.Gly863Ala Het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000772661" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "Prevention Genetics" "" "c.5461-10T>C Intronic Het" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000772662" "0" "70" "1" "94546118" "94546118" "subst" "8.13326E-6" "01695" "ABCA4_000082" "g.94546118A>C" "" "Prevention Genetics" "" "c.1015T>G p.Trp339Gly Het" "" "Unknown" "" "" "0" "" "" "g.94080562A>C" "" "likely pathogenic (recessive)" ""
"0000772663" "0" "90" "1" "94508435" "94508436" "dup" "0" "01695" "ABCA4_000998" "g.94508435_94508436dup" "" "Prevention Genetics" "" "c.3210_3211dupGT p.Ser1071Cysfs*14 Het" "" "Unknown" "" "" "0" "" "" "g.94042879_94042880dup" "" "pathogenic (recessive)" ""
"0000772664" "3" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "" "Prevention Genetics" "" "c.1804C>T p.Arg602Trp hom" "" "Unknown" "" "" "0" "" "" "g.94062710G>A" "" "pathogenic (recessive)" ""
"0000772665" "0" "50" "1" "94528774" "94528774" "subst" "0.00264827" "01695" "ABCA4_000298" "g.94528774C>T" "" "Prevention Genetics" "" "c.1654G>A p.Val552Ile Het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94063218C>T" "" "VUS" ""
"0000772666" "0" "50" "1" "94546104" "94546104" "subst" "0.00103684" "01695" "ABCA4_000941" "g.94546104A>G" "" "Prevention Genetics" "" "c.1029T>C p.Asn343Asn Het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94080548A>G" "" "VUS" ""
"0000772667" "0" "50" "1" "94481287" "94481287" "subst" "0.000171629" "01695" "ABCA4_001207" "g.94481287C>T" "" "Prevention Genetics" "" "c.5312+8G>A Intronic het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94015731C>T" "" "VUS" ""
"0000772668" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "" "Prevention Genetics" "" "c.3322C>T p.Arg1108Cys het" "" "Unknown" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000772669" "0" "50" "1" "94568686" "94568686" "subst" "0.00258122" "01695" "ABCA4_000212" "g.94568686C>T" "" "Prevention Genetics" "" "c.455G>A p.Arg152Gln het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94103130C>T" "" "VUS" ""
"0000772670" "0" "70" "1" "94578618" "94578618" "subst" "0.000166918" "01695" "ABCA4_000252" "g.94578618C>T" "" "Prevention Genetics" "" "c.71G>A p.Arg24His Het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94113062C>T" "" "likely pathogenic (recessive)" ""
"0000772671" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "" "Prevention Genetics" "" "c.6079C>T p.Leu2027Phe het" "" "Unknown" "" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic (recessive)" ""
"0000772672" "0" "70" "1" "94506902" "94506902" "subst" "1.21834E-5" "01695" "ABCA4_000623" "g.94506902G>A" "" "Prevention Genetics" "" "c.3385C>T p.Arg1129Cys het" "" "Unknown" "" "" "0" "" "" "g.94041346G>A" "" "likely pathogenic (recessive)" ""
"0000772673" "0" "70" "1" "94528780" "94528780" "subst" "4.06171E-6" "01695" "ABCA4_000299" "g.94528780C>T" "" "Prevention Genetics" "" "c.1648G>A p.Gly550Arg het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94063224C>T" "" "likely pathogenic (recessive)" ""
"0000772674" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "Prevention Genetics" "" "c.5714+5G>A Intronic Het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000772675" "0" "90" "1" "94544895" "94544895" "subst" "1.62455E-5" "01695" "ABCA4_000329" "g.94544895G>A" "" "Prevention Genetics" "" "c.1222C>T p.Arg408* Het" "" "Unknown" "" "" "0" "" "" "g.94079339G>A" "" "pathogenic (recessive)" ""
"0000772676" "0" "50" "1" "94487404" "94487404" "subst" "0.00244055" "01695" "ABCA4_000497" "g.94487404C>T" "" "Prevention Genetics" "" "c.4771G>A p.Gly1591Arg Het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94021848C>T" "" "VUS" ""
"0000772677" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "Prevention Genetics" "" "c.5461-10T>C Intronic Het" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000772678" "0" "70" "1" "94467475" "94467475" "subst" "3.65542E-5" "01695" "ABCA4_000171" "g.94467475C>A" "" "Prevention Genetics" "" "c.6221G>T p.Gly2074Val Het" "" "Unknown" "" "" "0" "" "" "g.94001919C>A" "" "likely pathogenic (recessive)" ""
"0000772679" "0" "90" "1" "94526265" "94526265" "subst" "0" "01695" "ABCA4_000143" "g.94526265C>T" "" "Prevention Genetics" "" "c.1988G>A p.Trp663Ter Het" "" "Unknown" "" "" "0" "" "" "g.94060709C>T" "" "pathogenic (recessive)" ""
"0000772680" "0" "50" "1" "94487404" "94487404" "subst" "0.00244055" "01695" "ABCA4_000497" "g.94487404C>T" "" "Prevention Genetics" "" "c.4771G>A p.Gly1591Arg Het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94021848C>T" "" "VUS" ""
"0000772681" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "Prevention Genetics" "" "c.5461-10T>C Intronic Het" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000772682" "0" "70" "1" "94577135" "94577135" "subst" "2.43718E-5" "01695" "ABCA4_000240" "g.94577135C>T" "" "Prevention Genetics" "" "c.161G>A p.Cys54Tyr Het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94111579C>T" "" "likely pathogenic (recessive)" ""
"0000772683" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "" "Prevention Genetics" "" "c.768G>T p.Val256Val Het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000772684" "0" "50" "1" "94528142" "94528142" "subst" "0.00153303" "01695" "ABCA4_000125" "g.94528142A>C" "" "Prevention Genetics" "" "c.1928T>G p.Val643Gly Het" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94062586A>C" "" "VUS" ""
"0000772685" "0" "90" "1" "94473298" "94473298" "del" "0" "01695" "ABCA4_000396" "g.94473298del" "" "Prevention Genetics" "" "c.5899-2delA Splicing Het" "" "Unknown" "" "" "0" "" "" "g.94007742del" "" "pathogenic (recessive)" ""
"0000772686" "0" "50" "1" "94480146" "94480146" "subst" "2.84273E-5" "01695" "ABCA4_000122" "g.94480146T>C" "" "Prevention Genetics" "" "c.5413A>G p.Asn1805Asp Het" "" "Unknown" "" "" "0" "" "" "g.94014590T>C" "" "VUS" ""
"0000772687" "0" "70" "1" "94577010" "94577010" "subst" "0" "01695" "ABCA4_002222" "g.94577010T>A" "" "Prevention Genetics" "" "c.286A>T p.Asn96Tyr Het" "" "Unknown" "" "" "0" "" "" "g.94111454T>A" "" "likely pathogenic (recessive)" ""
"0000772688" "0" "70" "1" "94490567" "94490567" "subst" "5.68528E-5" "01695" "ABCA4_000026" "g.94490567G>A" "" "Prevention Genetics" "" "c.4577C>T p.Thr1526Met Het" "" "Unknown" "" "" "0" "" "" "g.94025011G>A" "" "likely pathogenic (recessive)" ""
"0000772689" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "Prevention Genetics" "" "c.5882G>A p.Gly1961Glu het" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000772690" "0" "70" "1" "94495078" "94495078" "subst" "8.37044E-6" "01695" "ABCA4_000042" "g.94495078A>G" "" "Prevention Genetics" "" "c.4462T>C p.Cys1488Arg het" "" "Unknown" "" "" "0" "" "" "g.94029522A>G" "" "likely pathogenic (recessive)" ""
"0000772691" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "Prevention Genetics" "" "c.1622T>C p.Leu541Pro het" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000772692" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "Prevention Genetics" "" "c.1622T>C p.Leu541Pro het" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000772693" "3" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Goetz 2020:32893963}" "" "c.2588G>C, p.Gly863Ala Homozygous" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000772694" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Goetz 2020:32893963}" "" "c.5882G>A, p.Gly1961Glu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000772695" "0" "50" "1" "94481376" "94481376" "subst" "0" "01695" "ABCA4_001709" "g.94481376C>T" "" "{PMID:Goetz 2020:32893963}" "" "c.5231G>A, p.Gly1744Asp Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94015820C>T" "" "VUS" ""
"0000772696" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Goetz 2020:32893963}" "" "c.5882G>A, p.Gly1961Glu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000772697" "0" "50" "1" "94586693" "94586693" "subst" "0" "01695" "ABCA4_002258" "g.94586693G>A" "" "{PMID:Goetz 2020:32893963}" "" "c.-92C>T, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94121137G>A" "" "VUS" ""
"0000772698" "0" "90" "1" "94510248" "94510248" "subst" "0.000544123" "01695" "ABCA4_000107" "g.94510248C>G" "87, 121410, 0, 0.0007166" "{PMID:Goetz 2020:32893963}" "" "c.2971G>C, p.Gly991Arg Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94044692C>G" "" "pathogenic (recessive)" ""
"0000772699" "0" "50" "1" "94577112" "94577112" "subst" "4.06164E-6" "01695" "ABCA4_000051" "g.94577112G>A" "" "{PMID:Goetz 2020:32893963}" "" "c.184C>T, p.Pro62Ser Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94111556G>A" "" "VUS" ""
"0000772700" "0" "90" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "21, 121302, 0, 0.0001731" "{PMID:Goetz 2020:32893963}" "" "c.2894A>G, p.Asn965Ser Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94046943T>C" "" "pathogenic (recessive)" ""
"0000772701" "0" "70" "1" "94471032" "94471032" "subst" "1.62553E-5" "01695" "ABCA4_000792" "g.94471032G>A" "3, 121400, 0, 0.00002471" "{PMID:Goetz 2020:32893963}" "" "c.6112C>T, p.p.Arg2038Trp Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94005476G>A" "" "likely pathogenic (recessive)" ""
"0000772702" "0" "90" "1" "94473189" "94473189" "subst" "0" "01695" "ABCA4_000386" "g.94473189C>T" "" "{PMID:Goetz 2020:32893963}" "" "c.IVS43+1G>A, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94007633C>T" "" "pathogenic (recessive)" ""
"0000772703" "0" "70" "1" "94543262" "94543262" "subst" "1.22307E-5" "01695" "ABCA4_002114" "g.94543262A>G" "2, 119664, 0, 0.00001671" "{PMID:Goetz 2020:32893963}" "" "c.1538T>C, p.Val513Ala Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94077706A>G" "" "likely pathogenic (recessive)" ""
"0000772704" "0" "90" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "227, 121250, 3, 0.001872" "{PMID:Goetz 2020:32893963}" "" "c.6320G>A, p.Arg2107His Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94001068C>T" "" "pathogenic (recessive)" ""
"0000772705" "0" "70" "1" "94528151" "94528151" "subst" "0" "01695" "ABCA4_000265" "g.94528151G>A" "" "{PMID:Goetz 2020:32893963}" "" "c.1919C>T, p.Pro640Leu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94062595G>A" "" "likely pathogenic (recessive)" ""
"0000772706" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Goetz 2020:32893963}" "" "c.5882G>A, p.Gly1961Glu Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000772707" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Goetz 2020:32893963}" "" "c.5882G>A, p.Gly1961Glu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000772708" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Goetz 2020:32893963}" "" "c.5882G>A, p.Gly1961Glu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000772709" "0" "70" "1" "94546118" "94546118" "subst" "8.13326E-6" "01695" "ABCA4_000082" "g.94546118A>C" "" "{PMID:Goetz 2020:32893963}" "" "c.1015T>G, p.Trp339Gly Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94080562A>C" "" "likely pathogenic (recessive)" ""
"0000772710" "0" "90" "1" "94485137" "94485137" "subst" "0" "01695" "ABCA4_000464" "g.94485137C>T" "3, 49858, 0, 0.00006017" "{PMID:Goetz 2020:32893963}" "" "c.5196+1G>A, Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94019581C>T" "" "pathogenic (recessive)" ""
"0000772711" "0" "90" "1" "94526212" "94526212" "subst" "1.22012E-5" "01695" "ABCA4_000075" "g.94526212G>A" "3, 120836, 0, 0.00002483" "{PMID:Goetz 2020:32893963}" "" "c.2041C>T, p.Arg681* Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94060656G>A" "" "pathogenic (recessive)" ""
"0000772712" "0" "70" "1" "94577082" "94577082" "subst" "2.84315E-5" "01695" "ABCA4_000232" "g.94577082C>T" "3, 121252, 0, 0.00002474" "{PMID:Goetz 2020:32893963}" "" "c.214G>A, p.Gly72Arg heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94111526C>T" "" "likely pathogenic (recessive)" ""
"0000772713" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "173, 121304, 0, 0.001426" "{PMID:Goetz 2020:32893963}" "" "c.3113C>T, p.Ala1038Val Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000772714" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "24, 119274, 0, 0.0002012" "{PMID:Goetz 2020:32893963}" "" "c.4139C>T, p.Pro1380Leu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000772715" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "42, 120772, 0, 0.0003478" "{PMID:Goetz 2020:32893963}" "" "c.5714+5G>A, heterozygous" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000772716" "3" "10" "1" "94505604" "94505604" "subst" "0.00645586" "01695" "ABCA4_000092" "g.94505604A>C" "879, 64452, 44, 0.01364" "{PMID:Goetz 2020:32893963}" "" "c.3602T>G, p.Leu1201Arg Homozygous" "" "Unknown" "" "" "0" "" "" "g.94040048A>C" "" "benign" ""
"0000772717" "0" "70" "1" "94471055" "94471055" "subst" "0.00035346" "01695" "ABCA4_000029" "g.94471055C>T" "47, 121404, 1, 0.0003871" "{PMID:Goetz 2020:32893963}" "" "c.6089G>A, p.Arg2030Gln Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94005499C>T" "" "likely pathogenic (recessive)" ""
"0000772718" "0" "70" "1" "94486889" "94486889" "subst" "0.000995166" "01695" "ABCA4_000895" "g.94486889C>A" "148, 121396, 1, 0.001219" "{PMID:Goetz 2020:32893963}" "" "c.4925G>T, p.Ser1642Ile Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94021333C>A" "" "likely pathogenic (recessive)" ""
"0000772719" "0" "70" "1" "94495077" "94495077" "subst" "8.39461E-6" "01695" "ABCA4_000541" "g.94495077C>A" "1, 68804, 0, 0.00001453" "{PMID:Goetz 2020:32893963}" "" "c.4463G>T, Cys1488Phe Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94029521C>A" "" "likely pathogenic (recessive)" ""
"0000772720" "0" "90" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "227, 121250, 3, 0.001872" "{PMID:Goetz 2020:32893963}" "" "c.6320G>A, p.Arg2107His Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94001068C>T" "" "pathogenic (recessive)" ""
"0000772721" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "14, 121282, 0, 0.0001154" "{PMID:Goetz 2020:32893963}" "" "c.3322C>T, p.Arg1108Cys Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000772722" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "173, 121304, 0, 0.001426" "{PMID:Goetz 2020:32893963}" "" "c.3113C>T, p.Ala1038Val Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000772723" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Goetz 2020:32893963}" "" "c.5882G>A, p.Gly1961Glu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000772724" "0" "10" "1" "94505604" "94505604" "subst" "0.00645586" "01695" "ABCA4_000092" "g.94505604A>C" "879, 64452, 44, 0.01364" "{PMID:Goetz 2020:32893963}" "" "c.3602T>G, p.Leu1201Arg Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94040048A>C" "" "benign" ""
"0000772725" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Goetz 2020:32893963}" "" "c.5461-10T>C, IVS38-10T>C heterozygous" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000772726" "0" "70" "1" "94490550" "94490550" "subst" "0.000105588" "01695" "ABCA4_000523" "g.94490550C>T" "11, 121406, 0, 0.00009061" "{PMID:Goetz 2020:32893963}" "" "c.4594G>A, Asp1532Asn Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94024994C>T" "" "likely pathogenic (recessive)" ""
"0000772727" "0" "90" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "227, 121250, 3, 0.001872" "{PMID:Goetz 2020:32893963}" "" "c.6320G>A, p.Arg2107His Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94001068C>T" "" "pathogenic (recessive)" ""
"0000772728" "0" "50" "1" "94495133" "94495133" "subst" "0" "01695" "ABCA4_001814" "g.94495133G>A" "" "{PMID:Goetz 2020:32893963}" "" "c.4407C>T, p.Asn1469sn Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94029577G>A" "" "VUS" ""
"0000772729" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Goetz 2020:32893963}" "" "c.5882G>A, p.Gly1961Glu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000772730" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Goetz 2020:32893963}" "" "c.5882G>A, p.Gly1961Glu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000772731" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "24, 119274, 0, 0.0002012" "{PMID:Goetz 2020:32893963}" "" "c.4139C>T, p.Pro1380Leu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000772732" "0" "70" "1" "94577135" "94577135" "subst" "2.43718E-5" "01695" "ABCA4_000240" "g.94577135C>T" "2, 121210, 0, 0.0000165" "{PMID:Goetz 2020:32893963}" "" "c.161G>A, p.Cys54Tyr Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94111579C>T" "" "likely pathogenic (recessive)" ""
"0000772733" "0" "70" "1" "94577135" "94577135" "subst" "2.43718E-5" "01695" "ABCA4_000240" "g.94577135C>T" "2, 121210, 0, 0.0000165" "{PMID:Goetz 2020:32893963}" "" "c.161G>A, p.Cys54Tyr Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94111579C>T" "" "likely pathogenic (recessive)" ""
"0000772734" "0" "70" "1" "94488948" "94488948" "subst" "0" "01695" "ABCA4_000514" "g.94488948T>C" "" "{PMID:Goetz 2020:32893963}" "" "c.4661A>G, p.Glu1554Gly Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94023392T>C" "" "likely pathogenic (recessive)" ""
"0000772735" "0" "90" "1" "94495157" "94495157" "subst" "0" "01695" "ABCA4_000545" "g.94495157C>T" "" "{PMID:Goetz 2020:32893963}" "" "c.4383G>A, p.Trp1461* Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94029601C>T" "" "pathogenic (recessive)" ""
"0000772736" "0" "70" "1" "94488948" "94488948" "subst" "0" "01695" "ABCA4_000514" "g.94488948T>C" "" "{PMID:Goetz 2020:32893963}" "" "c.4661A>G, p.Glu1554Gly Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94023392T>C" "" "likely pathogenic (recessive)" ""
"0000772737" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Goetz 2020:32893963}" "" "c.5882G>A, p.Gly1961Glu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000772738" "0" "70" "1" "94528765" "94528765" "subst" "0" "01695" "ABCA4_002094" "g.94528765C>T" "" "{PMID:Goetz 2020:32893963}" "" "c.1663G>A, p.(Asp555Asn) Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94063209C>T" "" "likely pathogenic (recessive)" ""
"0000772739" "0" "70" "1" "94506902" "94506902" "subst" "1.21834E-5" "01695" "ABCA4_000623" "g.94506902G>A" "2, 121396, 0, 0.00001648" "{PMID:Goetz 2020:32893963}" "" "c.3385C>T, p.Arg1129Cys Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94041346G>A" "" "likely pathogenic (recessive)" ""
"0000772740" "0" "70" "1" "94506902" "94506902" "subst" "1.21834E-5" "01695" "ABCA4_000623" "g.94506902G>A" "2, 121396, 0, 0.00001648" "{PMID:Goetz 2020:32893963}" "" "c.3385C>T, p.Arg1129Cys Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94041346G>A" "" "likely pathogenic (recessive)" ""
"0000772741" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Goetz 2020:32893963}" "" "c.2588G>C, p.Gly863Ala Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000772742" "0" "90" "1" "94510253" "94510253" "subst" "0.000247694" "01695" "ABCA4_000108" "g.94510253A>G" "36, 121412, 0, 0.0002965" "{PMID:Goetz 2020:32893963}" "" "c.2966T>C, p.Val989la Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94044697A>G" "" "pathogenic (recessive)" ""
"0000772743" "0" "70" "1" "94577135" "94577135" "subst" "2.43718E-5" "01695" "ABCA4_000240" "g.94577135C>T" "2, 121210, 0, 0.0000165" "{PMID:Goetz 2020:32893963}" "" "c.161G>A, p.Cys54Tyr Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94111579C>T" "" "likely pathogenic (recessive)" ""
"0000772744" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "173, 121304, 0, 0.001426" "{PMID:Goetz 2020:32893963}" "" "c.3113C>T, p.Ala1038Val Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000772745" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "13, 121216, 0, 0.0001072" "{PMID:Goetz 2020:32893963}" "" "c.768G>T, p.Val256Val Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000772746" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Goetz 2020:32893963}" "" "c.5461-10T>CC, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000772747" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Goetz 2020:32893963}" "" "c.5461-10T>C, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000772748" "0" "70" "1" "94506923" "94506923" "subst" "2.43657E-5" "01695" "ABCA4_000012" "g.94506923C>T" "3, 121394, 0, 0.00002471" "{PMID:Goetz 2020:32893963}" "" "c.3364G>A, p.Glu1122Lys Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94041367C>T" "" "likely pathogenic (recessive)" ""
"0000772749" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Goetz 2020:32893963}" "" "c.5882G>A, p.Gly1961Glu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000772750" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "173, 121304, 0, 0.001426" "{PMID:Goetz 2020:32893963}" "" "c.3113C>T, p.Ala1038Val Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000772751" "0" "70" "1" "94485197" "94485197" "subst" "1.23624E-5" "01695" "ABCA4_001496" "g.94485197G>T" "" "{PMID:Goetz 2020:32893963}" "" "c.5137C>A, p.Gln1713Lys* Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94019641G>T" "" "likely pathogenic (recessive)" ""
"0000772752" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "5406, 121330, 156, 0.04456" "{PMID:Goetz 2020:32893963}" "" "c.5603A>T, p.Asp.Asn1868Ile Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000772753" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Goetz 2020:32893963}" "" "c.5461-10T>C, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000772754" "0" "90" "1" "94578583" "94578583" "del" "0" "01695" "ABCA4_000248" "g.94578583del" "" "{PMID:Goetz 2020:32893963}" "" "c.106delT, Frame shift Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94113027del" "" "pathogenic (recessive)" ""
"0000772755" "0" "50" "1" "94528142" "94528142" "subst" "0.00153303" "01695" "ABCA4_000125" "g.94528142A>C" "163, 121098, 1, 0.001346" "{PMID:Goetz 2020:32893963}" "" "c.1928T>G, p.Val643Gly Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94062586A>C" "" "VUS" ""
"0000772756" "3" "70" "1" "94508366" "94508366" "subst" "0" "01695" "ABCA4_000638" "g.94508366G>T" "" "{PMID:Goetz 2020:32893963}" "" "c.3279C>A, p.Asp1093Glu* Homozygous" "" "Unknown" "" "" "0" "" "" "g.94042810G>T" "" "likely pathogenic (recessive)" ""
"0000772757" "3" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Goetz 2020:32893963}" "" "c.5461-10T>C, Intronic Homozygous" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000772758" "0" "50" "1" "94473864" "94473864" "subst" "0.173865" "01695" "ABCA4_000885" "g.94473864C>T" "" "{PMID:Goetz 2020:32893963}" "" "c.IVS42-11G>A, Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008308C>T" "" "VUS" ""
"0000772759" "3" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Goetz 2020:32893963}" "" "c.5882G>A, p.Gly1961E homozygous" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000772760" "0" "70" "1" "94528818" "94528818" "subst" "0.00205975" "01695" "ABCA4_001239" "g.94528818C>T" "239, 121412, 0, 0.001969" "{PMID:Goetz 2020:32893963}" "" "c.1610G>A, p.Arg537His Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94063262C>T" "" "likely pathogenic (recessive)" ""
"0000772761" "3" "70" "1" "94466422" "94466422" "subst" "2.43651E-5" "01695" "ABCA4_000817" "g.94466422C>T" "3, 121398, 0, 0.00002471" "{PMID:Goetz 2020:32893963}" "" "c.6449G>A, p.Cys2150Tyr Homozygous" "" "Unknown" "" "" "0" "" "" "g.94000866C>T" "" "likely pathogenic (recessive)" ""
"0000772762" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Goetz 2020:32893963}" "" "c.5882G>A, p.Gly1961Glu Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000772763" "0" "90" "1" "94497591" "94497591" "subst" "0" "01695" "ABCA4_000587" "g.94497591G>A" "1, 117564, 0, 0.000008506" "{PMID:Goetz 2020:32893963}" "" "c.3871C>T, p.Gln1291* Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94032035G>A" "" "pathogenic (recessive)" ""
"0000772764" "0" "70" "1" "94496583" "94496583" "subst" "2.03092E-5" "01695" "ABCA4_000190" "g.94496583A>G" "1, 120898, 0, 0.000008271" "{PMID:Goetz 2020:32893963}" "" "c.4222T>C, p.Trp1408Arg Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94031027A>G" "" "likely pathogenic (recessive)" ""
"0000772765" "3" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "5406, 121330, 156, 0.04456" "{PMID:Goetz 2020:32893963}" "" "c.5603A>T, p.Asp.Asn1868Ile Homozygous" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000772766" "0" "70" "1" "94522272" "94522272" "subst" "6.92171E-5" "01695" "ABCA4_002045" "g.94522272G>A" "" "{PMID:Goetz 2020:32893963}" "" "c.2267C>T, p.Ser756Phe Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94056716G>A" "" "likely pathogenic (recessive)" ""
"0000772767" "0" "70" "1" "94486896" "94486896" "subst" "3.65562E-5" "01695" "ABCA4_000085" "g.94486896G>A" "1, 121394, 0, 0.000008238" "{PMID:Goetz 2020:32893963}" "" "c.4918C>T, p.Arg1640Trp Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94021340G>A" "" "likely pathogenic (recessive)" ""
"0000772768" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "173, 121304, 0, 0.001426" "{PMID:Goetz 2020:32893963}" "" "c.3113C>T, p.Ala1038Val Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000772769" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "5406, 121330, 156, 0.04456" "{PMID:Goetz 2020:32893963}" "" "c.5603A>T, p.Asp.Asn1868Ile Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000772770" "0" "90" "1" "94485159" "94485159" "dup" "0" "01695" "ABCA4_001453" "g.94485159dup" "" "{PMID:Goetz 2020:32893963}" "" "c.5175dup, p.(Thr1726Aspfs*61) Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94019603dup" "" "pathogenic (recessive)" ""
"0000772771" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "26, 121404, 0, 0.0002142" "{PMID:Goetz 2020:32893963}" "" "c.6079C>T, p.Leu2027Phe Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic (recessive)" ""
"0000772772" "0" "70" "1" "94528143" "94528143" "subst" "0.00124448" "01695" "ABCA4_000076" "g.94528143C>T" "196, 121108, 1, 0.001618" "{PMID:Goetz 2020:32893963}" "" "c.1927G>A, p.Val643Met Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94062587C>T" "" "likely pathogenic (recessive)" ""
"0000772773" "0" "90" "1" "94528132" "94528132" "subst" "4.06835E-6" "01695" "ABCA4_000773" "g.94528132C>T" "1, 120972, 0, 0.000008266" "{PMID:Goetz 2020:32893963}" "" "c.1937+1G>A, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94062576C>T" "" "pathogenic (recessive)" ""
"0000772774" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Goetz 2020:32893963}" "" "c.5882G>A, p.Gly1961Glu Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000772775" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Goetz 2020:32893963}" "" "c.5882G>A, p.Gly1961Glu Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000772776" "0" "70" "1" "94510164" "94510164" "subst" "1.62441E-5" "01695" "ABCA4_000144" "g.94510164C>T" "2, 121386, 0, 0.00001648" "{PMID:Goetz 2020:32893963}" "" "c.IVS20+5G>A, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94044608C>T" "" "likely pathogenic (recessive)" ""
"0000772777" "0" "70" "1" "94522239" "94522239" "subst" "2.03305E-5" "01695" "ABCA4_000736" "g.94522239A>T" "1, 119332, 0, 0.00000838" "{PMID:Goetz 2020:32893963}" "" "c.2300T>A, p.Val767Asp Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94056683A>T" "" "likely pathogenic (recessive)" ""
"0000772778" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Goetz 2020:32893963}" "" "c.2588G>C, p.Gly863Ala Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000772779" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Goetz 2020:32893963}" "" "c.2588G>C, p.Gly863Ala Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000772780" "0" "90" "1" "94510253" "94510253" "subst" "0.000247694" "01695" "ABCA4_000108" "g.94510253A>G" "36, 121412, 0, 0.0002965" "{PMID:Goetz 2020:32893963}" "" "c.2966T>C, p.Val989la Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94044697A>G" "" "pathogenic (recessive)" ""
"0000772781" "0" "70" "1" "94508898" "94508898" "subst" "8.13173E-6" "01695" "ABCA4_001947" "g.94508898G>T" "" "{PMID:Goetz 2020:32893963}" "" "c.3184C>A, p.Leu1062Ile Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94043342G>T" "" "likely pathogenic (recessive)" ""
"0000772782" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Goetz 2020:32893963}" "" "c.5882G>A, p.Gly1961Glu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000772783" "0" "90" "1" "94495009" "94495009" "dup" "0" "01695" "ABCA4_000087" "g.94495009dup" "" "{PMID:Goetz 2020:32893963}" "" "c.4537dupC, p.Gln1513Profs*42 Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94029453dup" "" "pathogenic (recessive)" ""
"0000772784" "0" "70" "1" "94496583" "94496583" "subst" "2.03092E-5" "01695" "ABCA4_000190" "g.94496583A>G" "1, 120898, 0, 0.000008271" "{PMID:Goetz 2020:32893963}" "" "c.4222T>C, p.Trp1408Arg Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94031027A>G" "" "likely pathogenic (recessive)" ""
"0000772785" "0" "70" "1" "94528143" "94528143" "subst" "0.00124448" "01695" "ABCA4_000076" "g.94528143C>T" "196, 121108, 1, 0.001618" "{PMID:Goetz 2020:32893963}" "" "c.1927G>A, p.Val643Met Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94062587C>T" "" "likely pathogenic (recessive)" ""
"0000772786" "0" "70" "1" "94476812" "94476812" "subst" "0" "01695" "ABCA4_000048" "g.94476812A>G" "" "{PMID:Goetz 2020:32893963}" "" "c.5584+6T>C, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94011256A>G" "" "likely pathogenic (recessive)" ""
"0000772787" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "13, 121216, 0, 0.0001072" "{PMID:Goetz 2020:32893963}" "" "c.768G>T, p.Val256Val Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000772788" "0" "70" "1" "94528713" "94528713" "subst" "4.87381E-5" "01695" "ABCA4_000072" "g.94528713C>T" "6, 121412, 0, 0.00004942" "{PMID:Goetz 2020:32893963}" "" "c.1715G>A, p.Arg572Gln Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94063157C>T" "" "likely pathogenic (recessive)" ""
"0000772789" "0" "70" "1" "94466627" "94466627" "subst" "4.06408E-6" "01695" "ABCA4_000867" "g.94466627C>T" "" "{PMID:Goetz 2020:32893963}" "" "c.6317G>A, p.Arg2106His Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94001071C>T" "" "likely pathogenic (recessive)" ""
"0000772790" "0" "90" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "227, 121250, 3, 0.001872" "{PMID:Goetz 2020:32893963}" "" "c.6320G>A, p.Arg2107His Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94001068C>T" "" "pathogenic (recessive)" ""
"0000772791" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "5406, 121330, 156, 0.04456" "{PMID:Goetz 2020:32893963}" "" "c.5603A>T, p.Asp.Asn1868Ile Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000772792" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "26, 121404, 0, 0.0002142" "{PMID:Goetz 2020:32893963}" "" "c.6079C>T, p.Leu2027Phe Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic (recessive)" ""
"0000772793" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "5406, 121330, 156, 0.04456" "{PMID:Goetz 2020:32893963}" "" "c.5603A>T, p.Asp.Asn1868Ile Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000772794" "0" "50" "1" "94568686" "94568686" "subst" "0.00258122" "01695" "ABCA4_000212" "g.94568686C>T" "290, 120866, 1, 0.002399" "{PMID:Goetz 2020:32893963}" "" "c.455G>A, p.Arg152Gln Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94103130C>T" "" "VUS" ""
"0000772795" "0" "70" "1" "94497392" "94497392" "subst" "0" "01695" "ABCA4_000577" "g.94497392G>A" "" "{PMID:Goetz 2020:32893963}" "" "c.4070C>T, p.Ala1357Val Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94031836G>A" "" "likely pathogenic (recessive)" ""
"0000772796" "0" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "12, 60116, 0, 0.0001996" "{PMID:Goetz 2020:32893963}" "" "c.4469G>A, p.Cys1490Tyr Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94029515C>T" "" "likely pathogenic (recessive)" ""
"0000772797" "0" "90" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "21, 121302, 0, 0.0001731" "{PMID:Goetz 2020:32893963}" "" "c.2894A>G, p.Asn965Ser Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94046943T>C" "" "pathogenic (recessive)" ""
"0000772798" "0" "90" "1" "94509032" "94509032" "subst" "0" "01695" "ABCA4_001354" "g.94509032C>T" "" "{PMID:Goetz 2020:32893963}" "" "c.IVS20-1G>A, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94043476C>T" "" "pathogenic (recessive)" ""
"0000772799" "0" "70" "1" "94577135" "94577135" "subst" "2.43718E-5" "01695" "ABCA4_000240" "g.94577135C>T" "2, 121210, 0, 0.0000165" "{PMID:Goetz 2020:32893963}" "" "c.161G>A, p.Cys54Tyr heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94111579C>T" "" "likely pathogenic (recessive)" ""
"0000772800" "0" "90" "1" "94473298" "94473298" "del" "0" "01695" "ABCA4_000396" "g.94473298del" "" "{PMID:Goetz 2020:32893963}" "" "c.IVS42-2delA, Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94007742del" "" "pathogenic (recessive)" ""
"0000772801" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Goetz 2020:32893963}" "" "c.2588G>C, p.Gly863Ala heterozygous" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000772802" "0" "50" "1" "94526211" "94526211" "subst" "2.43974E-5" "01695" "ABCA4_000758" "g.94526211C>T" "2, 120882, 0, 0.00001655" "{PMID:Goetz 2020:32893963}" "" "c.2042G>A, p.Arg681Gln Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94060655C>T" "" "VUS" ""
"0000772803" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "5406, 121330, 156, 0.04456" "{PMID:Goetz 2020:32893963}" "" "c.5603A>T, p.Asp.Asn1868Ile Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000772804" "0" "70" "1" "94578620" "94578620" "subst" "0" "01695" "ABCA4_002244" "g.94578620A>C" "" "{PMID:Goetz 2020:32893963}" "" "c.69T>G, p.Ile23Met Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94113064A>C" "" "likely pathogenic (recessive)" ""
"0000772805" "0" "90" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "227, 121250, 3, 0.001872" "{PMID:Goetz 2020:32893963}" "" "c.6320G>A, p.Arg2107His Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94001068C>T" "" "pathogenic (recessive)" ""
"0000772806" "0" "70" "1" "94490567" "94490567" "subst" "5.68528E-5" "01695" "ABCA4_000026" "g.94490567G>A" "4, 121406, 0, 0.00003295" "{PMID:Goetz 2020:32893963}" "" "c.4577C>T, p.Thr1526Met Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94025011G>A" "" "likely pathogenic (recessive)" ""
"0000772807" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "13, 121216, 0, 0.0001072" "{PMID:Goetz 2020:32893963}" "" "c.768G>T, p.Val256Valabnlspl Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000772808" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Goetz 2020:32893963}" "" "c.5882G>A, p.Gly1961Glu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000772809" "0" "30" "1" "94496602" "94496602" "subst" "0.0234538" "01695" "ABCA4_000913" "g.94496602G>T" "2957, 120728, 46, 0.02449" "{PMID:Goetz 2020:32893963}" "" "c.4203C>A, p.Pro1401Pro Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94031046G>T" "" "likely benign" ""
"0000772810" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Goetz 2020:32893963}" "" "c.5882G>A, p.Gly1961Glu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000772811" "3" "90" "1" "94577046" "94577049" "dup" "0" "01695" "ABCA4_000227" "g.94577046_94577049dup" "" "{PMID:Goetz 2020:32893963}" "" "c.247_250dupCAAA, p.Ser84Thrfs*16 Homozygous" "" "Unknown" "" "" "0" "" "" "g.94111490_94111493dup" "" "pathogenic (recessive)" ""
"0000772812" "0" "90" "1" "94488943" "94488943" "del" "0" "01695" "ABCA4_000513" "g.94488943del" "" "{PMID:Goetz 2020:32893963}" "" "c.4666delA, p.Arg1556Glyfs*25 Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94023387del" "" "pathogenic (recessive)" ""
"0000772813" "0" "90" "1" "94544220" "94544221" "ins" "0" "01695" "ABCA4_002135" "g.94544220_94544221insN[17]" "" "{PMID:Goetz 2020:32893963}" "" "c.1281_1282ins17, p.Val428Lysfs*13 Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94078664_94078665insN[17]" "" "pathogenic (recessive)" ""
"0000772814" "0" "50" "1" "94471025" "94471025" "subst" "0.00031698" "01695" "ABCA4_000096" "g.94471025C>T" "41, 121396, 0, 0.0003377" "{PMID:Goetz 2020:32893963}" "" "c.6119G>A, p.Arg2040Gln Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94005469C>T" "" "VUS" ""
"0000772815" "0" "70" "1" "94568582" "94568582" "subst" "2.03034E-5" "01695" "ABCA4_000203" "g.94568582G>A" "" "{PMID:Goetz 2020:32893963}" "" "c.559C>T, p.Arg187Cys Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94103026G>A" "" "likely pathogenic (recessive)" ""
"0000772816" "0" "70" "1" "94577010" "94577010" "subst" "4.06679E-6" "01695" "ABCA4_000225" "g.94577010T>G" "" "{PMID:Goetz 2020:32893963}" "" "c.286A>C, p.Asn96His Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94111454T>G" "" "likely pathogenic (recessive)" ""
"0000772817" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "15, 121412, 0, 0.0001235" "{PMID:Goetz 2020:32893963}" "" "c.1622T>C, p.Leu541Pro Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000772818" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "173, 121304, 0, 0.001426" "{PMID:Goetz 2020:32893963}" "" "c.3113C>T, p.Ala1038Val Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000772819" "0" "70" "1" "94508451" "94508451" "subst" "0" "01695" "ABCA4_001942" "g.94508451C>T" "" "{PMID:Goetz 2020:32893963}" "" "c.3194G>A, p.Gly1065Asp Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94042895C>T" "" "likely pathogenic (recessive)" ""
"0000772820" "0" "90" "1" "94526265" "94526265" "subst" "0" "01695" "ABCA4_000143" "g.94526265C>T" "" "{PMID:Goetz 2020:32893963}" "" "c.1988G>A, p.Trp663Stop Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94060709C>T" "" "pathogenic (recessive)" ""
"0000772821" "0" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "12, 60116, 0, 0.0001996" "{PMID:Goetz 2020:32893963}" "" "c.4469G>A, p.Cys1490Tyr Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94029515C>T" "" "likely pathogenic (recessive)" ""
"0000772822" "0" "70" "1" "94471058" "94471058" "subst" "0" "01695" "ABCA4_001625" "g.94471058C>A" "" "{PMID:Goetz 2020:32893963}" "" "c.6086G>T, p.Gly2029Val Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94005502C>A" "" "likely pathogenic (recessive)" ""
"0000772823" "0" "50" "1" "94578524" "94578524" "subst" "0" "01695" "ABCA4_002237" "g.94578524C>T" "" "{PMID:Goetz 2020:32893963}" "" "c.IVS2+5G>Ac.160+5G>A, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94112968C>T" "" "VUS" ""
"0000772824" "0" "70" "1" "94506952" "94506952" "subst" "0" "01695" "ABCA4_000628" "g.94506952G>T" "" "{PMID:Goetz 2020:32893963}" "" "c.3335C>A, p.Thr1112Asn Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94041396G>T" "" "likely pathogenic (recessive)" ""
"0000772825" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "24, 119274, 0, 0.0002012" "{PMID:Goetz 2020:32893963}" "" "c.4139C>T, p.Pro1380Leu Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000772826" "0" "70" "1" "94485224" "94485224" "subst" "0" "01695" "ABCA4_001730" "g.94485224C>T" "" "{PMID:Goetz 2020:32893963}" "" "c.5110G>A, p.Glu1704Lys Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94019668C>T" "" "likely pathogenic (recessive)" ""
"0000772827" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "15, 121412, 0, 0.0001235" "{PMID:Goetz 2020:32893963}" "" "c.1622T>C, p.Leu541Pro Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000772828" "0" "70" "1" "94490567" "94490567" "subst" "5.68528E-5" "01695" "ABCA4_000026" "g.94490567G>A" "4, 121406, 0, 0.00003295" "{PMID:Goetz 2020:32893963}" "" "c.4577C>T, p.Thr1526Met Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94025011G>A" "" "likely pathogenic (recessive)" ""
"0000772829" "0" "90" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "14, 120056, 0, 0.0001166" "{PMID:Goetz 2020:32893963}" "" "c.634C>T, p.Arg212Cys Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94098928G>A" "" "pathogenic (recessive)" ""
"0000772830" "3" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "173, 121304, 0, 0.001426" "{PMID:Goetz 2020:32893963}" "" "c.3113C>T, p.Ala1038Val Homozygous" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000772831" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "42, 120772, 0, 0.0003478" "{PMID:Goetz 2020:32893963}" "" "c.IVS40+5G>A, heterozygous" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000772832" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Goetz 2020:32893963}" "" "c.5882G>A, p.Gly1961Glu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000772833" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Goetz 2020:32893963}" "" "c.5461-10T>C, Spllicing Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000772834" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "15, 121412, 0, 0.0001235" "{PMID:Goetz 2020:32893963}" "" "c.1622T>C, p.Leu541Pro Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000772835" "0" "50" "1" "94544270" "94544270" "subst" "0.000255833" "01695" "ABCA4_002137" "g.94544270C>G" "" "{PMID:Goetz 2020:32893963}" "" "c.1240-8G>C, Intronic Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94078714C>G" "" "VUS" ""
"0000772836" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Goetz 2020:32893963}" "" "c.5461-10T>CC, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000772837" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Goetz 2020:32893963}" "" "c.5461-10T>C, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000772838" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Goetz 2020:32893963}" "" "c.5461-10T>C, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000772839" "0" "90" "1" "94510248" "94510248" "subst" "0.000544123" "01695" "ABCA4_000107" "g.94510248C>G" "87, 121410, 0, 0.0007166" "{PMID:Goetz 2020:32893963}" "" "c.2971G>C, p.Gly991Arg Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94044692C>G" "" "pathogenic (recessive)" ""
"0000772840" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "173, 121304, 0, 0.001426" "{PMID:Goetz 2020:32893963}" "" "c.3113C>T, p.Ala1038Val Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000772841" "0" "70" "1" "94506880" "94506880" "subst" "0" "01695" "ABCA4_001902" "g.94506880C>T" "" "{PMID:Goetz 2020:32893963}" "" "c.3407G>A, p.Gly1136Glu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94041324C>T" "" "likely pathogenic (recessive)" ""
"0000772842" "0" "90" "1" "94467515" "94467518" "del" "0" "01695" "ABCA4_001380" "g.94467515_94467518del" "" "{PMID:Goetz 2020:32893963}" "" "c.6181_6184delACTG, p.Thr2061Serfs*53 Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94001959_94001962del" "" "pathogenic (recessive)" ""
"0000772843" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "13, 121216, 0, 0.0001072" "{PMID:Goetz 2020:32893963}" "" "c.768G>T, p.Val256Valabnlspl Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000772844" "0" "90" "1" "94466625" "94466625" "subst" "1.62559E-5" "01695" "ABCA4_000839" "g.94466625G>A" "2, 121244, 0, 0.0000165" "{PMID:Goetz 2020:32893963}" "" "c.6319C>T, p.Arg2107Cys Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94001069G>A" "" "pathogenic (recessive)" ""
"0000772845" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "30, 121388, 0, 0.0002471" "{PMID:Goetz 2020:32893963}" "" "c.3386G>T, p.Arg1129Leu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000772846" "3" "90" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "227, 121250, 3, 0.001872" "{PMID:Goetz 2020:32893963}" "" "c.6320G>A, p.Arg2107His Homozygous" "" "Unknown" "" "" "0" "" "" "g.94001068C>T" "" "pathogenic (recessive)" ""
"0000772847" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Goetz 2020:32893963}" "" "c.5461-10T>C, Intronic Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000772848" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "24, 119274, 0, 0.0002012" "{PMID:Goetz 2020:32893963}" "" "c.4139C>T, p.Pro1380Leu Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000772849" "0" "70" "1" "94496636" "94496636" "subst" "4.06296E-6" "01695" "ABCA4_000159" "g.94496636A>G" "1, 120092, 0, 0.000008327" "{PMID:Goetz 2020:32893963}" "" "c.4169T>C, p.Leu1390Pro Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94031080A>G" "" "likely pathogenic (recessive)" ""
"0000772850" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Goetz 2020:32893963}" "" "c.5461-10T>CC, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000772851" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "6, 119038, 0, 0.0000504" "{PMID:Goetz 2020:32893963}" "" "c.1804C>T, p.Arg602Trp Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94062710G>A" "" "pathogenic (recessive)" ""
"0000772852" "0" "50" "1" "94497613" "94497613" "subst" "0.000118927" "01695" "ABCA4_001864" "g.94497613T>C" "" "{PMID:Goetz 2020:32893963}" "" "c.3863-14A>G, Intronic Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94032057T>C" "" "VUS" ""
"0000772853" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Goetz 2020:32893963}" "" "c.5461-10T>C, Splicing Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000772854" "0" "70" "1" "94508366" "94508366" "subst" "0" "01695" "ABCA4_000638" "g.94508366G>T" "" "{PMID:Goetz 2020:32893963}" "" "c.3279C>A, p.Asp1093Glu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94042810G>T" "" "likely pathogenic (recessive)" ""
"0000772855" "0" "70" "1" "94486896" "94486896" "subst" "3.65562E-5" "01695" "ABCA4_000085" "g.94486896G>A" "1, 121394, 0, 0.000008238" "{PMID:Goetz 2020:32893963}" "" "c.4918C>T, p.Arg1640Trp heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94021340G>A" "" "likely pathogenic (recessive)" ""
"0000772856" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "26, 121404, 0, 0.0002142" "{PMID:Goetz 2020:32893963}" "" "c.6079C>T, p.Leu2027Phe Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic (recessive)" ""
"0000772857" "0" "90" "1" "94466452" "94466452" "subst" "4.06088E-6" "01695" "ABCA4_000822" "g.94466452A>T" "1, 121406, 0, 0.000008237" "{PMID:Goetz 2020:32893963}" "" "c.6419T>A, p.Leu2140Gln Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94000896A>T" "" "pathogenic (recessive)" ""
"0000772858" "0" "90" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "227, 121250, 3, 0.001872" "{PMID:Goetz 2020:32893963}" "" "c.6320G>A, p.Arg2107His Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94001068C>T" "" "pathogenic (recessive)" ""
"0000772859" "0" "70" "1" "94578619" "94578619" "subst" "2.85088E-5" "01695" "ABCA4_000253" "g.94578619G>A" "5, 120400, 0, 0.00004153" "{PMID:Goetz 2020:32893963}" "" "c.70C>T, p.R24C heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94113063G>A" "" "likely pathogenic (recessive)" ""
"0000772860" "0" "90" "1" "94546220" "94546220" "subst" "0" "01695" "ABCA4_000060" "g.94546220G>A" "" "{PMID:Goetz 2020:32893963}" "" "c.913C>T, p.Gln305Stop Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94080664G>A" "" "pathogenic (recessive)" ""
"0000772861" "0" "90" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "227, 121250, 3, 0.001872" "{PMID:Goetz 2020:32893963}" "" "c.6320G>A, p.Arg2107His Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94001068C>T" "" "pathogenic (recessive)" ""
"0000772862" "0" "70" "1" "94578594" "94578594" "subst" "0" "01695" "ABCA4_001327" "g.94578594G>A" "" "{PMID:Goetz 2020:32893963}" "" "c.95C>T, p.Pro32Leu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94113038G>A" "" "likely pathogenic (recessive)" ""
"0000772863" "0" "70" "1" "94466422" "94466422" "subst" "2.43651E-5" "01695" "ABCA4_000817" "g.94466422C>T" "3, 121398, 0, 0.00002471" "{PMID:Goetz 2020:32893963}" "" "c.6449G>A, p.Cys2150Tyr Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94000866C>T" "" "likely pathogenic (recessive)" ""
"0000772864" "0" "70" "1" "94476920" "94476920" "subst" "9.34815E-5" "01695" "ABCA4_001688" "g.94476920C>T" "" "{PMID:Goetz 2020:32893963}" "" "c.5482G>A, p.Val1828Met Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94011364C>T" "" "likely pathogenic (recessive)" ""
"0000772865" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Goetz 2020:32893963}" "" "c.5882G>A, p.Gly1961Glu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000772866" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Goetz 2020:32893963}" "" "c.5882G>A, p.Gly1961Glu Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000772867" "0" "70" "1" "94495083" "94495083" "subst" "0.000124542" "01695" "ABCA4_000542" "g.94495083G>A" "11, 77176, 0, 0.0001425" "{PMID:Goetz 2020:32893963}" "" "c.4457C>T, p.Pro1486Leu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94029527G>A" "" "likely pathogenic (recessive)" ""
"0000772868" "0" "70" "1" "94490567" "94490567" "subst" "5.68528E-5" "01695" "ABCA4_000026" "g.94490567G>A" "4, 121406, 0, 0.00003295" "{PMID:Goetz 2020:32893963}" "" "c.4577C>T, p.Thr1526Met Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94025011G>A" "" "likely pathogenic (recessive)" ""
"0000772869" "0" "70" "1" "94471055" "94471055" "subst" "0.00035346" "01695" "ABCA4_000029" "g.94471055C>T" "47, 121404, 1, 0.0003871" "{PMID:Goetz 2020:32893963}" "" "c.6089G>A, p.Arg2030Gln Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94005499C>T" "" "likely pathogenic (recessive)" ""
"0000772870" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Goetz 2020:32893963}" "" "c.2588G>C, p.Gly863Ala Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000772871" "0" "70" "1" "94490567" "94490567" "subst" "5.68528E-5" "01695" "ABCA4_000026" "g.94490567G>A" "4, 121406, 0, 0.00003295" "{PMID:Goetz 2020:32893963}" "" "c.4577C>T, p.Thr1526Met Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94025011G>A" "" "likely pathogenic (recessive)" ""
"0000772872" "0" "70" "1" "94577102" "94577102" "subst" "4.06161E-6" "01695" "ABCA4_000033" "g.94577102C>T" "" "{PMID:Goetz 2020:32893963}" "" "c.194G>A, p.Gly65Glu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94111546C>T" "" "likely pathogenic (recessive)" ""
"0000772873" "0" "50" "1" "94486905" "94486905" "subst" "0.000105614" "01695" "ABCA4_000485" "g.94486905C>T" "10, 121382, 0, 0.00008238" "{PMID:Goetz 2020:32893963}" "" "c.4909G>A, p.Ala1637Thr heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94021349C>T" "" "VUS" ""
"0000772874" "0" "70" "1" "94471055" "94471055" "subst" "0.00035346" "01695" "ABCA4_000029" "g.94471055C>T" "47, 121404, 1, 0.0003871" "{PMID:Goetz 2020:32893963}" "" "c.6089G>A, p.Arg2030Gln Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94005499C>T" "" "likely pathogenic (recessive)" ""
"0000772875" "0" "50" "1" "94528137" "94528137" "subst" "2.03363E-5" "01695" "ABCA4_000774" "g.94528137C>T" "1, 121050, 0, 0.000008261" "{PMID:Goetz 2020:32893963}" "" "c.1933G>A, p.Asp645Asn Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94062581C>T" "" "VUS" ""
"0000772876" "0" "70" "1" "94512478" "94512478" "subst" "3.65871E-5" "01695" "ABCA4_000678" "g.94512478G>T" "7, 121308, 0, 0.0000577" "{PMID:Goetz 2020:32893963}" "" "c.2915C>A, p.Thr972Asn Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94046922G>T" "" "likely pathogenic (recessive)" ""
"0000772877" "0" "70" "1" "94461749" "94461749" "subst" "0.00632561" "01695" "ABCA4_001198" "g.94461749C>T" "" "{PMID:Goetz 2020:32893963}" "" "c.6732G>A, p.(Val2244=) Heterozygous" "" "Unknown" "" "" "0" "" "" "g.93996193C>T" "" "likely pathogenic (recessive)" ""
"0000772878" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "42, 120772, 0, 0.0003478" "{PMID:Goetz 2020:32893963}" "" "c.IVS40+5G>A, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000772879" "0" "90" "1" "94564442" "94564454" "del" "0" "01695" "ABCA4_000377" "g.94564442_94564454del" "" "{PMID:Goetz 2020:32893963}" "" "c.666_678del13, p.Lys223Metfs*14 Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94098886_94098898del" "" "pathogenic (recessive)" ""
"0000772880" "0" "70" "1" "94510202" "94510202" "subst" "0" "01695" "ABCA4_001504" "g.94510202C>A" "" "{PMID:Goetz 2020:32893963}" "" "c.3017G>T, p.Gly1006Val Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94044646C>A" "" "likely pathogenic (recessive)" ""
"0000772881" "0" "90" "1" "94496589" "94496589" "del" "0" "01695" "ABCA4_001500" "g.94496589del" "" "{PMID:Goetz 2020:32893963}" "" "c.4216delC, p.Trp1408fs Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94031033del" "" "pathogenic (recessive)" ""
"0000772882" "0" "70" "1" "94485134" "94485137" "del" "0" "01695" "ABCA4_000462" "g.94485134_94485137del" "" "{PMID:Goetz 2020:32893963}" "" "c.5196+3_5196+6delAAGT, IVS36+3_IVS36+6delAAGT Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94019578_94019581del" "" "likely pathogenic (recessive)" ""
"0000772883" "0" "70" "1" "94506908" "94506908" "subst" "0" "01695" "ABCA4_001905" "g.94506908C>T" "" "{PMID:Goetz 2020:32893963}" "" "c.3379G>A, p.Gly1127Arg Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94041352C>T" "" "likely pathogenic (recessive)" ""
"0000772884" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "13, 121216, 0, 0.0001072" "{PMID:Goetz 2020:32893963}" "" "c.768G>T, p.Val256Valabnlspl Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000772885" "0" "90" "1" "94526247" "94526248" "del" "0" "01695" "ABCA4_000761" "g.94526247_94526248del" "" "{PMID:Goetz 2020:32893963}" "" "c.2005_2006delAT, p.Met669spfsX96 Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94060691_94060692del" "" "pathogenic (recessive)" ""
"0000772886" "0" "70" "1" "94480241" "94480241" "subst" "7.71705E-5" "01695" "ABCA4_000446" "g.94480241G>A" "14, 121408, 0, 0.0001153" "{PMID:Goetz 2020:32893963}" "" "c.5318C>T, p.Ala1773Val Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94014685G>A" "" "likely pathogenic (recessive)" ""
"0000772887" "0" "70" "1" "94490567" "94490567" "subst" "5.68528E-5" "01695" "ABCA4_000026" "g.94490567G>A" "4, 121406, 0, 0.00003295" "{PMID:Goetz 2020:32893963}" "" "c.4577C>T, p.Thr1526Met Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94025011G>A" "" "likely pathogenic (recessive)" ""
"0000772888" "0" "90" "1" "94564442" "94564454" "del" "0" "01695" "ABCA4_000377" "g.94564442_94564454del" "" "{PMID:Goetz 2020:32893963}" "" "c.666_678del13, p.Lys223Metfs*14 Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94098886_94098898del" "" "pathogenic (recessive)" ""
"0000772889" "0" "90" "1" "94564442" "94564454" "del" "0" "01695" "ABCA4_000377" "g.94564442_94564454del" "" "{PMID:Goetz 2020:32893963}" "" "c.666_678del13, p.Lys223Metfs*14 Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94098886_94098898del" "" "pathogenic (recessive)" ""
"0000772890" "0" "10" "1" "94505604" "94505604" "subst" "0.00645586" "01695" "ABCA4_000092" "g.94505604A>C" "879, 64452, 44, 0.01364" "{PMID:Goetz 2020:32893963}" "" "c.3602T>G, p.Leu1201Arg Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94040048A>C" "" "benign" ""
"0000772891" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Goetz 2020:32893963}" "" "c.5461-10T>C, Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000772892" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Goetz 2020:32893963}" "" "c.5882G>A, p.Gly1961Glu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000772893" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Goetz 2020:32893963}" "" "c.5461-10T>C, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000772894" "0" "70" "1" "94577135" "94577135" "subst" "2.43718E-5" "01695" "ABCA4_000240" "g.94577135C>T" "2, 121210, 0, 0.0000165" "{PMID:Goetz 2020:32893963}" "" "c.161G>A, p.Cys54Tyr Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94111579C>T" "" "likely pathogenic (recessive)" ""
"0000772895" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Goetz 2020:32893963}" "" "c.5882G>A, p.Gly1961Glu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000772896" "0" "70" "1" "94577135" "94577135" "subst" "2.43718E-5" "01695" "ABCA4_000240" "g.94577135C>T" "2, 121210, 0, 0.0000165" "{PMID:Goetz 2020:32893963}" "" "c.161G>A, p.Cys54Tyr Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94111579C>T" "" "likely pathogenic (recessive)" ""
"0000772897" "0" "70" "1" "94577135" "94577135" "subst" "2.43718E-5" "01695" "ABCA4_000240" "g.94577135C>T" "2, 121210, 0, 0.0000165" "{PMID:Goetz 2020:32893963}" "" "c.161G>A, p.Cys54Tyr Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94111579C>T" "" "likely pathogenic (recessive)" ""
"0000772898" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Goetz 2020:32893963}" "" "c.5882G>A, p.Gly1961Glu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000772899" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Goetz 2020:32893963}" "" "c.2588G>C, p.Gly863Ala Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000772900" "0" "70" "1" "94486895" "94486895" "subst" "3.24923E-5" "01695" "ABCA4_000484" "g.94486895C>T" "7, 121398, 0, 0.00005766" "{PMID:Goetz 2020:32893963}" "" "c.4919G>A, p.Arg1640Gln Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94021339C>T" "" "likely pathogenic (recessive)" ""
"0000772901" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Goetz 2020:32893963}" "" "c.5882G>A, p.Gly1961Glu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000772902" "3" "70" "1" "94487251" "94487251" "subst" "2.85679E-5" "01695" "ABCA4_000490" "g.94487251G>T" "3, 113672, 0, 0.00002639" "{PMID:Goetz 2020:32893963}" "" "c.4793C>A, p.Ala1598Asp Homozygous" "" "Unknown" "" "" "0" "" "" "g.94021695G>T" "" "likely pathogenic (recessive)" ""
"0000772903" "0" "90" "1" "94476433" "94476433" "del" "0" "01695" "ABCA4_001672" "g.94476433del" "" "{PMID:Goetz 2020:32893963}" "" "c.5637delG, p.Phe1880LeufsX13 Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94010877del" "" "pathogenic (recessive)" ""
"0000772904" "0" "50" "1" "94480100" "94480100" "subst" "8.1217E-6" "01695" "ABCA4_000438" "g.94480100C>G" "1, 121402, 0, 0.000008237" "{PMID:Goetz 2020:32893963}" "" "c.5459G>C, p.Arg1820Pro Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94014544C>G" "" "VUS" ""
"0000772905" "0" "90" "1" "94488941" "94488941" "subst" "0" "01695" "ABCA4_001773" "g.94488941C>G" "" "{PMID:Goetz 2020:32893963}" "" "c.4667+1G>C, Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94023385C>G" "" "pathogenic (recessive)" ""
"0000772906" "0" "90" "1" "94495009" "94495009" "dup" "0" "01695" "ABCA4_000087" "g.94495009dup" "" "{PMID:Goetz 2020:32893963}" "" "c.4537dupC, p.Gln1513Profs*42 Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94029453dup" "" "pathogenic (recessive)" ""
"0000772907" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Goetz 2020:32893963}" "" "c.5461-10T>C, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000772908" "0" "70" "1" "94522290" "94522290" "subst" "0" "01695" "ABCA4_002047" "g.94522290A>G" "" "{PMID:Goetz 2020:32893963}" "" "c.2249T>C, p.Leu750Pro Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94056734A>G" "" "likely pathogenic (recessive)" ""
"0000772909" "0" "70" "1" "94528143" "94528143" "subst" "0.00124448" "01695" "ABCA4_000076" "g.94528143C>T" "196, 121108, 1, 0.001618" "{PMID:Goetz 2020:32893963}" "" "c.1927G>A, p.Val643Met Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94062587C>T" "" "likely pathogenic (recessive)" ""
"0000772910" "0" "90" "1" "94509026" "94509026" "subst" "4.06497E-5" "01695" "ABCA4_000660" "g.94509026G>A" "5, 120988, 0, 0.00004133" "{PMID:Goetz 2020:32893963}" "" "c.3056C>T, p.Thr1019Met Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94043470G>A" "" "pathogenic (recessive)" ""
"0000772911" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "13, 121216, 0, 0.0001072" "{PMID:Goetz 2020:32893963}" "" "c.768G>T, p.Val256Valabnlspl Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000772912" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "15, 121412, 0, 0.0001235" "{PMID:Goetz 2020:32893963}" "" "c.1622T>C, p.Leu541Pro Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000772913" "3" "70" "1" "94577093" "94577093" "subst" "0" "01695" "ABCA4_000178" "g.94577093G>C" "" "{PMID:Goetz 2020:32893963}" "" "c.203C>G, p.Pro68Arg Homozygous" "" "Unknown" "" "" "0" "" "" "g.94111537G>C" "" "likely pathogenic (recessive)" ""
"0000772914" "0" "10" "1" "94505604" "94505604" "subst" "0.00645586" "01695" "ABCA4_000092" "g.94505604A>C" "879, 64452, 44, 0.01364" "{PMID:Goetz 2020:32893963}" "" "c.3602 T>G CTG>CGG, p.Leu1201Arg Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94040048A>C" "" "benign" ""
"0000772915" "0" "70" "1" "94480095" "94480095" "subst" "0" "01695" "ABCA4_001691" "g.94480095T>C" "" "{PMID:Goetz 2020:32893963}" "" "c.IVS38+4A>Gc.5460+4A>G, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94014539T>C" "" "likely pathogenic (recessive)" ""
"0000772916" "0" "90" "1" "94486794" "94486794" "subst" "0" "01695" "ABCA4_000478" "g.94486794A>G" "" "{PMID:Goetz 2020:32893963}" "" "c.IVS35+2T>c.5018+2T>C, Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94021238A>G" "" "pathogenic (recessive)" ""
"0000772917" "0" "90" "1" "94522156" "94522156" "subst" "0" "01695" "ABCA4_000732" "g.94522156C>T" "" "{PMID:Goetz 2020:32893963}" "" "c.2382+1 G>A c.IVS15+1 G>A, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94056600C>T" "" "pathogenic (recessive)" ""
"0000772918" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Goetz 2020:32893963}" "" "c.2588G>C, p.Gly863Ala Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000772919" "0" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "12, 60116, 0, 0.0001996" "{PMID:Goetz 2020:32893963}" "" "c.4469G>A, p.Cys1490Tyr Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94029515C>T" "" "likely pathogenic (recessive)" ""
"0000772920" "0" "70" "1" "94546222" "94546222" "subst" "0" "01695" "ABCA4_002153" "g.94546222A>C" "" "{PMID:Goetz 2020:32893963}" "" "c.911T>G, p.Met304Arg Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94080666A>C" "" "likely pathogenic (recessive)" ""
"0000772921" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Goetz 2020:32893963}" "" "c.2588G>C, p.Gly863Ala Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000772922" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Goetz 2020:32893963}" "" "c.5461-10T>C, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000772923" "0" "70" "1" "94522186" "94522186" "subst" "2.03383E-5" "01695" "ABCA4_002036" "g.94522186G>A" "" "{PMID:Goetz 2020:32893963}" "" "c.2353C>T, p.Arg785Cys Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94056630G>A" "" "likely pathogenic (recessive)" ""
"0000772924" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "24, 119274, 0, 0.0002012" "{PMID:Goetz 2020:32893963}" "" "c.4139C>T, p.Pro1380Leu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000772925" "0" "70" "1" "94510164" "94510164" "subst" "1.62441E-5" "01695" "ABCA4_000144" "g.94510164C>T" "2, 121386, 0, 0.00001648" "{PMID:Goetz 2020:32893963}" "" "c.IVS20+5G>Ac.3050+5G>A, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94044608C>T" "" "likely pathogenic (recessive)" ""
"0000772926" "0" "50" "1" "94564451" "94564451" "subst" "0.000150413" "01695" "ABCA4_000378" "g.94564451T>G" "23, 121120, 0, 0.0001899" "{PMID:Goetz 2020:32893963}" "" "c.667A>C, p.Lys223Gln Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94098895T>G" "" "VUS" ""
"0000772927" "0" "50" "1" "94480164" "94480164" "subst" "0" "01695" "ABCA4_000440" "g.94480164T>C" "" "{PMID:Goetz 2020:32893963}" "" "c.5395A>G, p.Asn1799sp Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94014608T>C" "" "VUS" ""
"0000772928" "0" "50" "1" "94544962" "94544962" "subst" "6.90613E-5" "01695" "ABCA4_002142" "g.94544962G>A" "" "{PMID:Goetz 2020:32893963}" "" "c.1155C>T, p.Ile385Ile Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94079406G>A" "" "VUS" ""
"0000772929" "0" "50" "1" "94544140" "94544141" "ins" "0.000938872" "01695" "ABCA4_001241" "g.94544140_94544141insG" "" "{PMID:Goetz 2020:32893963}" "" "c.1356+5_1356+6insC, p.? Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94078584_94078585insG" "" "VUS" ""
"0000772930" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "13, 121216, 0, 0.0001072" "{PMID:Goetz 2020:32893963}" "" "c.768G>T, p.Val256Valabnlspl Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000772931" "3" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "14, 121282, 0, 0.0001154" "{PMID:Goetz 2020:32893963}" "" "c.3322C>T, p.Arg1108Cys Homozygous" "" "Unknown" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000772932" "0" "70" "1" "94486895" "94486895" "subst" "3.24923E-5" "01695" "ABCA4_000484" "g.94486895C>T" "7, 121398, 0, 0.00005766" "{PMID:Goetz 2020:32893963}" "" "c.4919G>A, p.Arg1640Gln Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94021339C>T" "" "likely pathogenic (recessive)" ""
"0000772933" "0" "70" "1" "94505659" "94505659" "subst" "0.000942724" "01695" "ABCA4_000921" "g.94505659C>A" "101, 83320, 0, 0.001212" "{PMID:Goetz 2020:32893963}" "" "c.3547G>T, p.Gly1183Cys Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94040103C>A" "" "likely pathogenic (recessive)" ""
"0000772934" "0" "70" "1" "94506923" "94506923" "subst" "2.43657E-5" "01695" "ABCA4_000012" "g.94506923C>T" "3, 121394, 0, 0.00002471" "{PMID:Goetz 2020:32893963}" "" "c.3364G>A, p.Glu1122Lys Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94041367C>T" "" "likely pathogenic (recessive)" ""
"0000772935" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "26, 121404, 0, 0.0002142" "{PMID:Goetz 2020:32893963}" "" "c.6079C>T, p.Leu2027Phe Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic (recessive)" ""
"0000772936" "0" "70" "1" "94490567" "94490567" "subst" "5.68528E-5" "01695" "ABCA4_000026" "g.94490567G>A" "4, 121406, 0, 0.00003295" "{PMID:Goetz 2020:32893963}" "" "c.4577C>T, p.Thr1526Met Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94025011G>A" "" "likely pathogenic (recessive)" ""
"0000772937" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Goetz 2020:32893963}" "" "c.5461-10T>C, IVS38-10T>C Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000772938" "0" "70" "1" "94544961" "94544961" "subst" "3.65625E-5" "01695" "ABCA4_002141" "g.94544961C>T" "" "{PMID:Goetz 2020:32893963}" "" "c.1156G>A, p.Ala386Thr Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94079405C>T" "" "likely pathogenic (recessive)" ""
"0000772939" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "15, 121412, 0, 0.0001235" "{PMID:Goetz 2020:32893963}" "" "c.1622T>C, p.Leu541Pro Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000772940" "0" "70" "1" "94485279" "94485293" "del" "0" "01695" "ABCA4_000476" "g.94485279_94485293del" "" "{PMID:Goetz 2020:32893963}" "" "c.5044_5058del15, p.Val1682_Val1686del Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94019723_94019737del" "" "likely pathogenic (recessive)" ""
"0000772941" "0" "70" "1" "94487399" "94487399" "subst" "7.30959E-5" "01695" "ABCA4_000038" "g.94487399T>C" "14, 121126, 0, 0.0001156" "{PMID:Goetz 2020:32893963}" "" "c.4773+3A>G, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94021843T>C" "" "likely pathogenic (recessive)" ""
"0000772942" "0" "70" "1" "94496582" "94496582" "subst" "0" "01695" "ABCA4_000089" "g.94496582C>A" "" "{PMID:Goetz 2020:32893963}" "" "c.4223G>T, p.Trp1408Leu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94031026C>A" "" "likely pathogenic (recessive)" ""
"0000772943" "0" "50" "1" "94487404" "94487404" "subst" "0.00244055" "01695" "ABCA4_000497" "g.94487404C>T" "317, 121146, 0, 0.002617" "{PMID:Goetz 2020:32893963}" "" "c.4771G>A, p.Gly1591Arg Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94021848C>T" "" "VUS" ""
"0000772944" "0" "50" "1" "94486860" "94486860" "subst" "0" "01695" "ABCA4_000153" "g.94486860A>C" "" "{PMID:Goetz 2020:32893963}" "" "c.4954T>G, p.Tyr1652Asp Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94021304A>C" "" "VUS" ""
"0000772945" "0" "90" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "14, 120056, 0, 0.0001166" "{PMID:Goetz 2020:32893963}" "" "c.634C>T, p.Arg212Cys Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94098928G>A" "" "pathogenic (recessive)" ""
"0000772946" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "24, 119274, 0, 0.0002012" "{PMID:Goetz 2020:32893963}" "" "c.4139C>T, p.Pro1380Leu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000772947" "0" "90" "1" "94520690" "94520690" "subst" "2.03102E-5" "01695" "ABCA4_000149" "g.94520690C>T" "4, 121342, 0, 0.00003296" "{PMID:Goetz 2020:32893963}" "" "c.2564G>A, p.Trp855* Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94055134C>T" "" "pathogenic (recessive)" ""
"0000772948" "3" "70" "1" "94496548" "94496548" "subst" "2.43787E-5" "01695" "ABCA4_000088" "g.94496548G>A" "2, 120802, 0, 0.00001656" "{PMID:Goetz 2020:32893963}" "" "c.4253+4C>Tc.4253+4C>T, Homozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94030992G>A" "" "likely pathogenic (recessive)" ""
"0000772949" "0" "90" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "21, 121302, 0, 0.0001731" "{PMID:Goetz 2020:32893963}" "" "c.2894A>G, p.Asn965Ser Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94046943T>C" "" "pathogenic (recessive)" ""
"0000772950" "0" "70" "1" "94496548" "94496548" "subst" "2.43787E-5" "01695" "ABCA4_000088" "g.94496548G>A" "2, 120802, 0, 0.00001656" "{PMID:Goetz 2020:32893963}" "" "c.4253+4C>T, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94030992G>A" "" "likely pathogenic (recessive)" ""
"0000772951" "0" "70" "1" "94495077" "94495077" "subst" "0" "01695" "ABCA4_000184" "g.94495077C>T" "" "{PMID:Goetz 2020:32893963}" "" "c.4463G>A, p.Cys1488Tyr Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94029521C>T" "" "likely pathogenic (recessive)" ""
"0000772952" "0" "70" "1" "94463452" "94463452" "subst" "9.34412E-5" "01695" "ABCA4_000870" "g.94463452C>T" "13, 121234, 0, 0.0001072" "{PMID:Goetz 2020:32893963}" "" "c.6694G>A, p.Glu2232Lys Heterozygous" "" "Unknown" "" "" "0" "" "" "g.93997896C>T" "" "likely pathogenic (recessive)" ""
"0000772953" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Goetz 2020:32893963}" "" "c.2588G>C, p.Gly863Ala Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000772954" "0" "90" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "21, 121302, 0, 0.0001731" "{PMID:Goetz 2020:32893963}" "" "c.2894A>G, p.Asn965Ser Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94046943T>C" "" "pathogenic (recessive)" ""
"0000772955" "0" "70" "1" "94490567" "94490567" "subst" "5.68528E-5" "01695" "ABCA4_000026" "g.94490567G>A" "4, 121406, 0, 0.00003295" "{PMID:Goetz 2020:32893963}" "" "c.4577C>T, p.Thr1526Met Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94025011G>A" "" "likely pathogenic (recessive)" ""
"0000772956" "0" "70" "1" "94528818" "94528818" "subst" "0.00205975" "01695" "ABCA4_001239" "g.94528818C>T" "239, 121412, 0, 0.001969" "{PMID:Goetz 2020:32893963}" "" "c.1610G>A, p.Arg537His Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94063262C>T" "" "likely pathogenic (recessive)" ""
"0000772957" "0" "50" "1" "94487490" "94487490" "subst" "0.00122268" "01695" "ABCA4_000506" "g.94487490A>G" "158, 121114, 0, 0.001305" "{PMID:Goetz 2020:32893963}" "" "c.4685T>C, p.Ile1562Thr Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94021934A>G" "" "VUS" ""
"0000772958" "0" "70" "1" "94506943" "94506943" "subst" "8.12183E-6" "01695" "ABCA4_001061" "g.94506943A>G" "" "{PMID:Goetz 2020:32893963}" "" "c.3344T>C, p.Met1115Thr Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94041387A>G" "" "likely pathogenic (recessive)" ""
"0000772959" "0" "90" "1" "94510248" "94510248" "subst" "0.000544123" "01695" "ABCA4_000107" "g.94510248C>G" "87, 121410, 0, 0.0007166" "{PMID:Goetz 2020:32893963}" "" "c.2971G>C, p.Gly991Arg Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94044692C>G" "" "pathogenic (recessive)" ""
"0000772960" "0" "70" "1" "94506923" "94506923" "subst" "2.43657E-5" "01695" "ABCA4_000012" "g.94506923C>T" "3, 121394, 0, 0.00002471" "{PMID:Goetz 2020:32893963}" "" "c.3364G>A, p.Glu1122Lys Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94041367C>T" "" "likely pathogenic (recessive)" ""
"0000772961" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Goetz 2020:32893963}" "" "c.2588G>C, p.Gly863Ala Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000772962" "0" "70" "1" "94486896" "94486896" "subst" "3.65562E-5" "01695" "ABCA4_000085" "g.94486896G>A" "1, 121394, 0, 0.000008238" "{PMID:Goetz 2020:32893963}" "" "c.4918C>T, p.Arg1640Trp Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94021340G>A" "" "likely pathogenic (recessive)" ""
"0000772963" "0" "70" "1" "94488966" "94488966" "subst" "4.91071E-5" "01695" "ABCA4_001775" "g.94488966C>T" "" "{PMID:Goetz 2020:32893963}" "" "c.4643G>A, p.Ser1548Asn Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94023410C>T" "" "likely pathogenic (recessive)" ""
"0000772964" "0" "90" "1" "94467473" "94467484" "dup" "0" "01695" "ABCA4_001598" "g.94467473_94467484dup" "" "{PMID:Goetz 2020:32893963}" "" "c.6221dupGTGGGG{G}CAACA, p.Asn2075Glnfs*22 Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94001917_94001928dup" "" "pathogenic (recessive)" ""
"0000772965" "0" "90" "1" "94568671" "94568671" "subst" "0" "01695" "ABCA4_000947" "g.94568671A>T" "" "{PMID:Goetz 2020:32893963}" "" "c.470T>A, p.Leu157Stop Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94103115A>T" "" "pathogenic (recessive)" ""
"0000772966" "0" "70" "1" "94486895" "94486895" "subst" "3.24923E-5" "01695" "ABCA4_000484" "g.94486895C>T" "7, 121398, 0, 0.00005766" "{PMID:Goetz 2020:32893963}" "" "c.4919G>A, p.Arg1640Gln Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94021339C>T" "" "likely pathogenic (recessive)" ""
"0000772967" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Goetz 2020:32893963}" "" "c.2588G>C, p.Gly863Ala Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000772968" "0" "50" "1" "94564462" "94564462" "subst" "4.06775E-5" "01695" "ABCA4_000380" "g.94564462C>G" "5, 120978, 0, 0.00004133" "{PMID:Goetz 2020:32893963}" "" "c.656G>C, p.Arg219Thr Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94098906C>G" "" "VUS" ""
"0000772969" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Goetz 2020:32893963}" "" "c.5461-10T>C, IVS38-10T>C Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000772970" "0" "70" "1" "94471055" "94471055" "subst" "0.00035346" "01695" "ABCA4_000029" "g.94471055C>T" "47, 121404, 1, 0.0003871" "{PMID:Goetz 2020:32893963}" "" "c.6089G>A, p.Arg2030Gln Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94005499C>T" "" "likely pathogenic (recessive)" ""
"0000772971" "0" "70" "1" "94466561" "94466561" "subst" "8.12288E-6" "01695" "ABCA4_000834" "g.94466561T>C" "1, 121390, 0, 0.000008238" "{PMID:Goetz 2020:32893963}" "" "c.6383A>G, p.His2128Arg Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94001005T>C" "" "likely pathogenic (recessive)" ""
"0000772972" "0" "50" "1" "94528736" "94528736" "subst" "0.000235562" "01695" "ABCA4_001237" "g.94528736T>C" "" "{PMID:Goetz 2020:32893963}" "" "c.1692A>G, p.Pro564Pro Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94063180T>C" "" "VUS" ""
"0000772973" "0" "50" "1" "94514477" "94514477" "subst" "0.00118992" "01695" "ABCA4_000700" "g.94514477G>A" "138, 121252, 1, 0.001138" "{PMID:Goetz 2020:32893963}" "" "c.2690C>T, p.Thr897Ile Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94048921G>A" "" "VUS" ""
"0000772974" "0" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "12, 60116, 0, 0.0001996" "{PMID:Goetz 2020:32893963}" "" "c.4469G>A, p.Cys1490Tyr Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94029515C>T" "" "likely pathogenic (recessive)" ""
"0000772975" "0" "70" "1" "94476452" "94476452" "subst" "8.12374E-6" "01695" "ABCA4_001673" "g.94476452T>C" "" "{PMID:Goetz 2020:32893963}" "" "c.5618A>G, p.Asp1873Gly Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94010896T>C" "" "likely pathogenic (recessive)" ""
"0000772976" "0" "70" "1" "94544249" "94544249" "subst" "8.12196E-6" "01695" "ABCA4_000323" "g.94544249A>G" "" "{PMID:Goetz 2020:32893963}" "" "c.1253T>C, p.Phe418Ser Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94078693A>G" "" "likely pathogenic (recessive)" ""
"0000772977" "0" "70" "1" "94577002" "94577002" "subst" "7.32398E-5" "01695" "ABCA4_000987" "g.94577002G>C" "" "{PMID:Goetz 2020:32893963}" "" "c.294C>G, p.Asn98Lys Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94111446G>C" "" "likely pathogenic (recessive)" ""
"0000772978" "0" "90" "1" "94586554" "94586560" "delins" "0" "01695" "ABCA4_002248" "g.94586554_94586560delinsCT" "" "{PMID:Goetz 2020:32893963}" "" "c.42_48delinsAG, p.Asn14Lysfs*38 Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94120998_94121004delinsCT" "" "pathogenic (recessive)" ""
"0000772979" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Goetz 2020:32893963}" "" "c.5882G>A, p.Gly1961Glu Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000772980" "0" "90" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "227, 121250, 3, 0.001872" "{PMID:Goetz 2020:32893963}" "" "c.6320G>A, p.Arg2107His Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94001068C>T" "" "pathogenic (recessive)" ""
"0000772981" "0" "90" "1" "94486794" "94486794" "subst" "0" "01695" "ABCA4_000478" "g.94486794A>G" "" "{PMID:Goetz 2020:32893963}" "" "c.5018+2T>C, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94021238A>G" "" "pathogenic (recessive)" ""
"0000772982" "0" "90" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "227, 121250, 3, 0.001872" "{PMID:Goetz 2020:32893963}" "" "c.6320G>A, p.Arg2107His Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94001068C>T" "" "pathogenic (recessive)" ""
"0000772983" "0" "90" "1" "94497336" "94497336" "subst" "0" "01695" "ABCA4_001848" "g.94497336G>A" "" "{PMID:Goetz 2020:32893963}" "" "c.4126C>T, p.Gln1376* Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94031780G>A" "" "pathogenic (recessive)" ""
"0000772984" "0" "70" "1" "94486895" "94486895" "subst" "3.24923E-5" "01695" "ABCA4_000484" "g.94486895C>T" "7, 121398, 0, 0.00005766" "{PMID:Goetz 2020:32893963}" "" "c.4919G>A, p.Arg1640Gln Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94021339C>T" "" "likely pathogenic (recessive)" ""
"0000772985" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "15, 121412, 0, 0.0001235" "{PMID:Goetz 2020:32893963}" "" "c.1622T>C, p.Leu541Pro Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000772986" "0" "70" "1" "94486941" "94486941" "subst" "0" "01695" "ABCA4_001746" "g.94486941G>C" "" "{PMID:Goetz 2020:32893963}" "" "c.4873C>G, p.His1625Asp Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94021385G>C" "" "likely pathogenic (recessive)" ""
"0000772987" "0" "50" "1" "94487490" "94487490" "subst" "0.00122268" "01695" "ABCA4_000506" "g.94487490A>G" "158, 121114, 0, 0.001305" "{PMID:Goetz 2020:32893963}" "" "c.4685T>C, p.Ile1562Thr Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94021934A>G" "" "VUS" ""
"0000772988" "0" "50" "1" "94487404" "94487404" "subst" "0.00244055" "01695" "ABCA4_000497" "g.94487404C>T" "317, 121146, 0, 0.002617" "{PMID:Goetz 2020:32893963}" "" "c.4771G>A, p.Gly1591Arg Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94021848C>T" "" "VUS" ""
"0000772989" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "14, 121282, 0, 0.0001154" "{PMID:Goetz 2020:32893963}" "" "c.3322C>T, p.Arg1108Cys Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000772990" "0" "70" "1" "94577082" "94577082" "subst" "2.84315E-5" "01695" "ABCA4_000232" "g.94577082C>T" "3, 121252, 0, 0.00002474" "{PMID:Goetz 2020:32893963}" "" "c.214G>A, p.Gly72Arg Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94111526C>T" "" "likely pathogenic (recessive)" ""
"0000772991" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Goetz 2020:32893963}" "" "c.5461-10T>C, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000772992" "0" "70" "1" "94506923" "94506923" "subst" "2.43657E-5" "01695" "ABCA4_000012" "g.94506923C>T" "3, 121394, 0, 0.00002471" "{PMID:Goetz 2020:32893963}" "" "c.3364G>A, p.Glu1122Lys Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94041367C>T" "" "likely pathogenic (recessive)" ""
"0000772993" "0" "90" "1" "94471026" "94471026" "subst" "1.21925E-5" "01695" "ABCA4_000791" "g.94471026G>A" "2, 121394, 0, 0.00001648" "{PMID:Goetz 2020:32893963}" "" "c.6118C>T, p.Arg2040* Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94005470G>A" "" "pathogenic (recessive)" ""
"0000772994" "0" "70" "1" "94495078" "94495078" "subst" "8.37044E-6" "01695" "ABCA4_000042" "g.94495078A>G" "1, 70400, 0, 0.0000142" "{PMID:Goetz 2020:32893963}" "" "c.4462T>C, p.Cys1488Arg Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94029522A>G" "" "likely pathogenic (recessive)" ""
"0000772995" "0" "90" "1" "94568687" "94568687" "subst" "1.62641E-5" "01695" "ABCA4_000024" "g.94568687G>A" "1, 120844, 0, 0.000008275" "{PMID:Goetz 2020:32893963}" "" "c.454C>T, p.Arg152Stop Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94103131G>A" "" "pathogenic (recessive)" ""
"0000772996" "0" "70" "1" "94486835" "94486835" "subst" "0" "01695" "ABCA4_001018" "g.94486835G>A" "" "{PMID:Goetz 2020:32893963}" "" "c.4979C>T, p.Pro1660Leu Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94021279G>A" "" "likely pathogenic (recessive)" ""
"0000772997" "0" "90" "1" "94520690" "94520690" "subst" "2.03102E-5" "01695" "ABCA4_000149" "g.94520690C>T" "4, 121342, 0, 0.00003296" "{PMID:Goetz 2020:32893963}" "" "c.2564G>A, p.Trp855* Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94055134C>T" "" "pathogenic (recessive)" ""
"0000772998" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Goetz 2020:32893963}" "" "c.5461-10T>C, IVS38-10T>C Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000772999" "3" "70" "1" "94461749" "94461749" "subst" "0.00632561" "01695" "ABCA4_001198" "g.94461749C>T" "" "{PMID:Goetz 2020:32893963}" "" "c.6732G>A, p.Val2244Val Homozygous" "" "Unknown" "" "" "0" "" "" "g.93996193C>T" "" "likely pathogenic (recessive)" ""
"0000773000" "0" "90" "1" "94467460" "94467461" "del" "0" "01695" "ABCA4_000778" "g.94467460_94467461del" "" "{PMID:Goetz 2020:32893963}" "" "c.6238_6239delTCACTC{TC}CACA, p.Ser2080Hisfs*16 Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94001904_94001905del" "" "pathogenic (recessive)" ""
"0000773001" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "173, 121304, 0, 0.001426" "{PMID:Goetz 2020:32893963}" "" "c.3113C>T, p.Ala1038Val Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000773002" "0" "90" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "227, 121250, 3, 0.001872" "{PMID:Goetz 2020:32893963}" "" "c.6320G>A, p.Arg2107His Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94001068C>T" "" "pathogenic (recessive)" ""
"0000773003" "0" "70" "1" "94495138" "94495138" "subst" "2.43952E-5" "01695" "ABCA4_000909" "g.94495138G>C" "" "{PMID:Goetz 2020:32893963}" "" "c.4402C>G, p.(Pro1468Ala) Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94029582G>C" "" "likely pathogenic (recessive)" ""
"0000773004" "0" "90" "1" "94546220" "94546220" "subst" "0" "01695" "ABCA4_000060" "g.94546220G>A" "" "{PMID:Goetz 2020:32893963}" "" "c.913C>T, p.Gln305Stop Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94080664G>A" "" "pathogenic (recessive)" ""
"0000773005" "0" "90" "1" "94510248" "94510248" "subst" "0.000544123" "01695" "ABCA4_000107" "g.94510248C>G" "87, 121410, 0, 0.0007166" "{PMID:Goetz 2020:32893963}" "" "c.2971G>C, p.Gly991Arg Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94044692C>G" "" "pathogenic (recessive)" ""
"0000773006" "0" "90" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "21, 121302, 0, 0.0001731" "{PMID:Goetz 2020:32893963}" "" "c.2894A>G, p.Asn965Ser Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94046943T>C" "" "pathogenic (recessive)" ""
"0000773007" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Goetz 2020:32893963}" "" "c.5882G>A, p.Gly1961Glu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000773008" "3" "50" "1" "94512541" "94512541" "subst" "0" "01695" "ABCA4_000066" "g.94512541A>G" "" "{PMID:Goetz 2020:32893963}" "" "c.2852T>C, p.Ile951Thr* Homozygous" "" "Unknown" "" "" "0" "" "" "g.94046985A>G" "" "VUS" ""
"0000773009" "0" "70" "1" "94544956" "94544956" "subst" "0" "01695" "ABCA4_002140" "g.94544956C>T" "" "{PMID:Goetz 2020:32893963}" "" "c.1161G>A, p.Trp387* Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94079400C>T" "" "likely pathogenic (recessive)" ""
"0000773010" "3" "50" "1" "94578548" "94578548" "subst" "0" "01695" "ABCA4_002240" "g.94578548C>T" "" "{PMID:Goetz 2020:32893963}" "" "c.141A>G, p.Pro47= Homozygous" "" "Unknown" "" "" "0" "" "" "g.94112992C>T" "" "VUS" ""
"0000773011" "0" "90" "1" "94480188" "94480188" "dup" "0" "01695" "ABCA4_001695" "g.94480188dup" "" "{PMID:Goetz 2020:32893963}" "" "c.5371dupG, p.Ala1791Glyfs*9 Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94014632dup" "" "pathogenic (recessive)" ""
"0000773012" "0" "90" "1" "94487468" "94487468" "del" "0" "01695" "ABCA4_000169" "g.94487468del" "" "{PMID:Goetz 2020:32893963}" "" "c.4710delC, p.Ile1571Serfs*10 Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94021912del" "" "pathogenic (recessive)" ""
"0000773013" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "13, 121216, 0, 0.0001072" "{PMID:Goetz 2020:32893963}" "" "c.768G>T, p.Val256Val Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000773014" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Goetz 2020:32893963}" "" "c.5461-10T>C, Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000773015" "0" "50" "1" "94528278" "94528278" "subst" "8.14571E-5" "01695" "ABCA4_000286" "g.94528278C>T" "11, 117906, 0, 0.00009329" "{PMID:Goetz 2020:32893963}" "" "c.1792G>A, p.Val598Met Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94062722C>T" "" "VUS" ""
"0000773016" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "5406, 121330, 156, 0.04456" "{PMID:Goetz 2020:32893963}" "" "c.5603A>T, p.Asp.Asn1868Ile Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000773017" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Goetz 2020:32893963}" "" "c.5882G>A, p.Gly1961Glu Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000773018" "0" "90" "1" "94528251" "94528251" "subst" "2.84824E-5" "01695" "ABCA4_000281" "g.94528251C>T" "3, 119908, 0, 0.00002502" "{PMID:Goetz 2020:32893963}" "" "c.1819G>A, p.Gly607Arg Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94062695C>T" "" "pathogenic (recessive)" ""
"0000773019" "0" "90" "1" "94568577" "94568577" "del" "0" "01695" "ABCA4_000201" "g.94568577del" "" "{PMID:Goetz 2020:32893963}" "" "c.564delA, p.P188fs Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94103021del" "" "pathogenic (recessive)" ""
"0000773020" "0" "70" "1" "94486896" "94486896" "subst" "3.65562E-5" "01695" "ABCA4_000085" "g.94486896G>A" "1, 121394, 0, 0.000008238" "{PMID:Goetz 2020:32893963}" "" "c.4918C>T, p.Arg1640Trp heterozygous" "" "Unknown" "" "" "0" "" "" "g.94021340G>A" "" "likely pathogenic (recessive)" ""
"0000773021" "0" "70" "1" "94466422" "94466422" "subst" "2.43651E-5" "01695" "ABCA4_000817" "g.94466422C>T" "3, 121398, 0, 0.00002471" "{PMID:Goetz 2020:32893963}" "" "c.6449G>A, p.Cys2150Tyr Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94000866C>T" "" "likely pathogenic (recessive)" ""
"0000773022" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Goetz 2020:32893963}" "" "c.5882G>A, p.Gly1961Glu Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000773023" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "15, 121412, 0, 0.0001235" "{PMID:Goetz 2020:32893963}" "" "c.1622T>C, p.Leu541Pro Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000773024" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "30, 121388, 0, 0.0002471" "{PMID:Goetz 2020:32893963}" "" "c.3386G>T, p.Arg1129Leu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000773025" "0" "90" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "227, 121250, 3, 0.001872" "{PMID:Goetz 2020:32893963}" "" "c.6320G>A, p.Arg2107His Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94001068C>T" "" "pathogenic (recessive)" ""
"0000773026" "0" "50" "1" "94520708" "94520708" "subst" "0.00102774" "01695" "ABCA4_000074" "g.94520708A>G" "162, 121382, 1, 0.001335" "{PMID:Goetz 2020:32893963}" "" "c.2546T>C, p.Val849la Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94055152A>G" "" "VUS" ""
"0000773027" "0" "70" "1" "94577102" "94577102" "subst" "4.06161E-6" "01695" "ABCA4_000033" "g.94577102C>T" "" "{PMID:Goetz 2020:32893963}" "" "c.194G>A, p.Gly65Glu Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94111546C>T" "" "likely pathogenic (recessive)" ""
"0000773028" "0" "70" "1" "94467475" "94467475" "subst" "3.65542E-5" "01695" "ABCA4_000171" "g.94467475C>A" "" "{PMID:Goetz 2020:32893963}" "" "c.6221G>T, p.Gly2074Val Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94001919C>A" "" "likely pathogenic (recessive)" ""
"0000773029" "0" "70" "1" "94490550" "94490550" "subst" "0.000105588" "01695" "ABCA4_000523" "g.94490550C>T" "11, 121406, 0, 0.00009061" "{PMID:Goetz 2020:32893963}" "" "c.4594G>A, p.Asp1532Asn Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94024994C>T" "" "likely pathogenic (recessive)" ""
"0000773030" "0" "70" "1" "94487399" "94487399" "subst" "7.30959E-5" "01695" "ABCA4_000038" "g.94487399T>C" "14, 121126, 0, 0.0001156" "{PMID:Goetz 2020:32893963}" "" "c.4773+3A>G, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94021843T>C" "" "likely pathogenic (recessive)" ""
"0000773031" "0" "70" "1" "94577010" "94577010" "subst" "4.06679E-6" "01695" "ABCA4_000225" "g.94577010T>G" "" "{PMID:Goetz 2020:32893963}" "" "c.286A>C, p.Asn96His Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94111454T>G" "" "likely pathogenic (recessive)" ""
"0000773032" "0" "70" "1" "94520688" "94520688" "subst" "0" "01695" "ABCA4_001517" "g.94520688A>T" "" "{PMID:Goetz 2020:32893963}" "" "c.2566T>A, p.Tyr856Asn Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94055132A>T" "" "likely pathogenic (recessive)" ""
"0000773033" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "42, 120772, 0, 0.0003478" "{PMID:Goetz 2020:32893963}" "" "c.IVS40+5G>A, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000773034" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "24, 119274, 0, 0.0002012" "{PMID:Goetz 2020:32893963}" "" "c.4139C>T, p.Pro1380Leu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000773035" "0" "70" "1" "94486941" "94486941" "subst" "0" "01695" "ABCA4_001420" "g.94486941G>A" "" "{PMID:Goetz 2020:32893963}" "" "c.4873C>T, p.His1625Tyr Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94021385G>A" "" "likely pathogenic (recessive)" ""
"0000773036" "0" "90" "1" "94490519" "94490532" "del" "0" "01695" "ABCA4_001784" "g.94490519_94490532del" "" "{PMID:Goetz 2020:32893963}" "" "c.4612_4625del14, p.Tyr1538Lysfs*12 Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94024963_94024976del" "" "pathogenic (recessive)" ""
"0000773037" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Goetz 2020:32893963}" "" "c.5882G>A, p.Gly1961Glu Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000773038" "0" "70" "1" "94496547" "94496547" "subst" "4.06345E-6" "01695" "ABCA4_000559" "g.94496547C>A" "1, 120798, 0, 0.000008278" "{PMID:Goetz 2020:32893963}" "" "c.IVS28+5G>T, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94030991C>A" "" "likely pathogenic (recessive)" ""
"0000773039" "0" "70" "1" "94490550" "94490550" "subst" "0.000105588" "01695" "ABCA4_000523" "g.94490550C>T" "11, 121406, 0, 0.00009061" "{PMID:Goetz 2020:32893963}" "" "c.4594G>A, p.Asp1532Asn Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94024994C>T" "" "likely pathogenic (recessive)" ""
"0000773040" "0" "90" "1" "94508316" "94508317" "delins" "0" "01695" "ABCA4_001919" "g.94508316_94508317delinsTT" "" "{PMID:Goetz 2020:32893963}" "" "c.3328_3328+1delGGinsAA, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94042760_94042761delinsTT" "" "pathogenic (recessive)" ""
"0000773041" "0" "70" "1" "94471032" "94471032" "subst" "1.62553E-5" "01695" "ABCA4_000792" "g.94471032G>A" "3, 121400, 0, 0.00002471" "{PMID:Goetz 2020:32893963}" "" "c.6112C>T, p.p.Arg2038Trp Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94005476G>A" "" "likely pathogenic (recessive)" ""
"0000773042" "0" "90" "1" "94467507" "94467507" "subst" "0" "01695" "ABCA4_001606" "g.94467507G>T" "" "{PMID:Goetz 2020:32893963}" "" "c.6189C>A, p.Tyr2063* Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94001951G>T" "" "pathogenic (recessive)" ""
"0000773043" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Goetz 2020:32893963}" "" "c.2588G>C, p.Gly863Ala Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000773044" "0" "50" "1" "94496610" "94496610" "subst" "2.03128E-5" "01695" "ABCA4_000571" "g.94496610C>T" "2, 120596, 0, 0.00001658" "{PMID:Goetz 2020:32893963}" "" "c.4195G>A, p.Glu1399Lys Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94031054C>T" "" "VUS" ""
"0000773045" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Goetz 2020:32893963}" "" "c.5461-10T>C, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000773046" "0" "70" "1" "94484001" "94484001" "subst" "0" "01695" "ABCA4_000016" "g.94484001C>T" "" "{PMID:Goetz 2020:32893963}" "" "c.5196+1137G>A, Intronic Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94018445C>T" "" "likely pathogenic (recessive)" ""
"0000773047" "0" "90" "1" "94466658" "94466658" "subst" "8.14817E-6" "01695" "ABCA4_000132" "g.94466658C>T" "1, 120798, 0, 0.000008278" "{PMID:Goetz 2020:32893963}" "" "c.6286G>A, p.Glu2096Lys Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94001102C>T" "" "pathogenic (recessive)" ""
"0000773048" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "173, 121304, 0, 0.001426" "{PMID:Goetz 2020:32893963}" "" "c.3113C>T, p.Ala1038Val Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000773049" "0" "70" "1" "94577010" "94577010" "subst" "4.06679E-6" "01695" "ABCA4_000225" "g.94577010T>G" "" "{PMID:Goetz 2020:32893963}" "" "c.286A>C, p.Asn96His Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94111454T>G" "" "likely pathogenic (recessive)" ""
"0000773050" "0" "50" "1" "94471025" "94471025" "subst" "0.00031698" "01695" "ABCA4_000096" "g.94471025C>T" "41, 121396, 0, 0.0003377" "{PMID:Goetz 2020:32893963}" "" "c.6119G>A, p.Arg2040Gln Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94005469C>T" "" "VUS" ""
"0000773051" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Goetz 2020:32893963}" "" "c.5882G>A, p.Gly1961Glu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000773052" "3" "70" "1" "94543443" "94543443" "subst" "0" "01695" "ABCA4_002124" "g.94543443C>A" "" "{PMID:Goetz 2020:32893963}" "" "c.1357G>T, p.Asp453Tyr Homozygous" "" "Unknown" "" "" "0" "" "" "g.94077887C>A" "" "likely pathogenic (recessive)" ""
"0000773053" "3" "70" "1" "94514424" "94514424" "subst" "4.06105E-6" "01695" "ABCA4_000972" "g.94514424C>T" "" "{PMID:Goetz 2020:32893963}" "" "c.2743G>A, p.Asp915Asn Homozygous" "" "Unknown" "" "" "0" "" "" "g.94048868C>T" "" "likely pathogenic (recessive)" ""
"0000773054" "0" "70" "1" "94480241" "94480241" "subst" "7.71705E-5" "01695" "ABCA4_000446" "g.94480241G>A" "14, 121408, 0, 0.0001153" "{PMID:Goetz 2020:32893963}" "" "c.5318C>T, p.Ala1773Val Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94014685G>A" "" "likely pathogenic (recessive)" ""
"0000773055" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "24, 119274, 0, 0.0002012" "{PMID:Goetz 2020:32893963}" "" "c.4139C>T, p.(Pro1380Leu) Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000773056" "0" "90" "1" "94490509" "94490509" "subst" "0" "01695" "ABCA4_001781" "g.94490509C>A" "" "{PMID:Goetz 2020:32893963}" "" "c.4634+1G>T, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94024953C>A" "" "pathogenic (recessive)" ""
"0000773057" "0" "50" "1" "94481401" "94481401" "subst" "4.09199E-6" "01695" "ABCA4_000460" "g.94481401A>G" "1, 104532, 0, 0.000009566" "{PMID:Goetz 2020:32893963}" "" "c.5206T>C, p.Ser1736Pro Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94015845A>G" "" "VUS" ""
"0000773058" "0" "90" "1" "94466556" "94466556" "subst" "4.06164E-6" "01695" "ABCA4_000831" "g.94466556G>C" "" "{PMID:Goetz 2020:32893963}" "" "c.6386+2C>G, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94001000G>C" "" "pathogenic (recessive)" ""
"0000773059" "0" "70" "1" "94490567" "94490567" "subst" "5.68528E-5" "01695" "ABCA4_000026" "g.94490567G>A" "4, 121406, 0, 0.00003295" "{PMID:Goetz 2020:32893963}" "" "c.4577C>T, p.Thr1526Met Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94025011G>A" "" "likely pathogenic (recessive)" ""
"0000773060" "0" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "12, 60116, 0, 0.0001996" "{PMID:Goetz 2020:32893963}" "" "c.4469G>A, p.Cys1490Tyr Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94029515C>T" "" "likely pathogenic (recessive)" ""
"0000773061" "0" "90" "1" "94466426" "94466426" "subst" "1.62433E-5" "01695" "ABCA4_000124" "g.94466426G>A" "2, 121400, 0, 0.00001647" "{PMID:Goetz 2020:32893963}" "" "c.6445C>T, p.Arg2149* Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94000870G>A" "" "pathogenic (recessive)" ""
"0000773062" "0" "90" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "227, 121250, 3, 0.001872" "{PMID:Goetz 2020:32893963}" "" "c.6320G>A, p.Arg2107His Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94001068C>T" "" "pathogenic (recessive)" ""
"0000773063" "0" "90" "1" "94576993" "94576993" "subst" "2.03513E-5" "01695" "ABCA4_000069" "g.94576993C>T" "4, 119416, 0, 0.0000335" "{PMID:Goetz 2020:32893963}" "" "c.IVS3+1G>A, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94111437C>T" "" "pathogenic (recessive)" ""
"0000773064" "0" "70" "1" "94486896" "94486896" "subst" "3.65562E-5" "01695" "ABCA4_000085" "g.94486896G>A" "1, 121394, 0, 0.000008238" "{PMID:Goetz 2020:32893963}" "" "c.4918C>T, p.Arg1640Trp Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94021340G>A" "" "likely pathogenic (recessive)" ""
"0000773065" "0" "70" "1" "94471032" "94471032" "subst" "1.62553E-5" "01695" "ABCA4_000792" "g.94471032G>A" "3, 121400, 0, 0.00002471" "{PMID:Goetz 2020:32893963}" "" "c.6112C>T, p.p.Arg2038Trp Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94005476G>A" "" "likely pathogenic (recessive)" ""
"0000773066" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Goetz 2020:32893963}" "" "c.2588G>C, p.Gly863Ala Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000773067" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "42, 120772, 0, 0.0003478" "{PMID:Goetz 2020:32893963}" "" "c.5714+5G>A, Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000773068" "0" "70" "1" "94546118" "94546118" "subst" "8.13326E-6" "01695" "ABCA4_000082" "g.94546118A>C" "" "{PMID:Goetz 2020:32893963}" "" "c.1015T>G, p.Trp339Gly Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94080562A>C" "" "likely pathogenic (recessive)" ""
"0000773069" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "24, 119274, 0, 0.0002012" "{PMID:Goetz 2020:32893963}" "" "c.4139C>T, p.P1380L Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000773070" "0" "90" "1" "94466557" "94466557" "subst" "4.06154E-6" "01695" "ABCA4_000832" "g.94466557C>T" "1, 121394, 0, 0.000008238" "{PMID:Goetz 2020:32893963}" "" "c.6386+1G>A, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94001001C>T" "" "pathogenic (recessive)" ""
"0000773071" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "14, 121282, 0, 0.0001154" "{PMID:Goetz 2020:32893963}" "" "c.3322C>T, p.Arg1108Cys Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000773072" "0" "90" "1" "94502760" "94502760" "subst" "4.0626E-6" "01695" "ABCA4_000599" "g.94502760C>A" "" "{PMID:Goetz 2020:32893963}" "" "c.3754G>T, p.Glu1252Stop Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94037204C>A" "" "pathogenic (recessive)" ""
"0000773073" "0" "90" "1" "94564463" "94564463" "subst" "0" "01695" "ABCA4_000381" "g.94564463T>A" "" "{PMID:Goetz 2020:32893963}" "" "c.655A>T, p.Arg219Stop Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94098907T>A" "" "pathogenic (recessive)" ""
"0000773074" "0" "70" "1" "94577082" "94577082" "subst" "2.84315E-5" "01695" "ABCA4_000232" "g.94577082C>T" "3, 121252, 0, 0.00002474" "{PMID:Goetz 2020:32893963}" "" "c.214G>A, p.Gly72Arg Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94111526C>T" "" "likely pathogenic (recessive)" ""
"0000773075" "0" "10" "1" "94497563" "94497563" "subst" "0.00492504" "01695" "ABCA4_000090" "g.94497563C>T" "757, 118654, 27, 0.00638" "{PMID:Goetz 2020:32893963}" "" "c.3899G>A, p.Arg1300Gln Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94032007C>T" "" "benign" ""
"0000773076" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Goetz 2020:32893963}" "" "c.5882G>A, p.Gly1961Glu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000773077" "3" "70" "1" "94490550" "94490550" "subst" "0.000105588" "01695" "ABCA4_000523" "g.94490550C>T" "11, 121406, 0, 0.00009061" "{PMID:Goetz 2020:32893963}" "" "c.4594G>A, p.Asp1532Asn Homozygous" "" "Unknown" "" "" "0" "" "" "g.94024994C>T" "" "likely pathogenic (recessive)" ""
"0000773078" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Goetz 2020:32893963}" "" "c.5882G>A, p.Gly1961Glu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000773079" "0" "90" "1" "94495009" "94495009" "dup" "0" "01695" "ABCA4_000087" "g.94495009dup" "" "{PMID:Goetz 2020:32893963}" "" "c.4538insC, p.Gln1513fs Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94029453dup" "" "pathogenic (recessive)" ""
"0000773080" "0" "90" "1" "94486966" "94486966" "subst" "2.44021E-5" "01695" "ABCA4_001748" "g.94486966C>T" "" "{PMID:Goetz 2020:32893963}" "" "c.4849-1G>A, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94021410C>T" "" "pathogenic (recessive)" ""
"0000773081" "0" "10" "1" "94505604" "94505604" "subst" "0.00645586" "01695" "ABCA4_000092" "g.94505604A>C" "879, 64452, 44, 0.01364" "{PMID:Goetz 2020:32893963}" "" "c.3602T>G, p.Leu1201Arg Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94040048A>C" "" "benign" ""
"0000773082" "0" "90" "1" "94497564" "94497564" "subst" "1.64383E-5" "01695" "ABCA4_000091" "g.94497564G>A" "4, 118564, 0, 0.00003374" "{PMID:Goetz 2020:32893963}" "" "c.3898C>T, p.Arg1300Ter heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94032008G>A" "" "pathogenic (recessive)" ""
"0000773083" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "6, 119038, 0, 0.0000504" "{PMID:Goetz 2020:32893963}" "" "c.1804C>T, p.Arg602Trp Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94062710G>A" "" "pathogenic (recessive)" ""
"0000773084" "0" "90" "1" "94520679" "94520679" "subst" "0" "01695" "ABCA4_002015" "g.94520679G>A" "" "{PMID:Goetz 2020:32893963}" "" "c.2575C>T, p.Gln859Stop Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94055123G>A" "" "pathogenic (recessive)" ""
"0000773085" "0" "90" "1" "94578623" "94578623" "subst" "0" "01695" "ABCA4_001481" "g.94578623C>G" "" "{PMID:Goetz 2020:32893963}" "" "c.67-1G>C, Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94113067C>G" "" "pathogenic (recessive)" ""
"0000773086" "0" "70" "1" "94463399" "94463413" "del" "0" "01695" "ABCA4_000851" "g.94463399_94463413del" "" "{PMID:Goetz 2020:32893963}" "" "c.6729+5_19del15, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.93997843_93997857del" "" "likely pathogenic (recessive)" ""
"0000773087" "0" "90" "1" "94466556" "94466556" "subst" "4.06164E-6" "01695" "ABCA4_000831" "g.94466556G>C" "" "{PMID:Goetz 2020:32893963}" "" "c.6386+2C>G, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94001000G>C" "" "pathogenic (recessive)" ""
"0000773088" "0" "70" "1" "94543290" "94543290" "subst" "4.06448E-6" "01695" "ABCA4_002116" "g.94543290T>G" "" "{PMID:Goetz 2020:32893963}" "" "c.1510A>C, p.Asn504His Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94077734T>G" "" "likely pathogenic (recessive)" ""
"0000773089" "0" "70" "1" "94467475" "94467475" "subst" "1.62463E-5" "01695" "ABCA4_001599" "g.94467475C>T" "" "{PMID:Goetz 2020:32893963}" "" "c.6221G>A, p.Gly2074Asp Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94001919C>T" "" "likely pathogenic (recessive)" ""
"0000773090" "0" "70" "1" "94577135" "94577135" "subst" "2.43718E-5" "01695" "ABCA4_000240" "g.94577135C>T" "2, 121210, 0, 0.0000165" "{PMID:Goetz 2020:32893963}" "" "c.161G>A, p.Cys54Tyr Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94111579C>T" "" "likely pathogenic (recessive)" ""
"0000773091" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Goetz 2020:32893963}" "" "c.2588G>C, p.Gly863Ala Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000773092" "0" "70" "1" "94486896" "94486896" "subst" "3.65562E-5" "01695" "ABCA4_000085" "g.94486896G>A" "1, 121394, 0, 0.000008238" "{PMID:Goetz 2020:32893963}" "" "c.4918C>T, p.Arg1640Trp Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94021340G>A" "" "likely pathogenic (recessive)" ""
"0000773093" "0" "50" "1" "94487490" "94487490" "subst" "0.00122268" "01695" "ABCA4_000506" "g.94487490A>G" "158, 121114, 0, 0.001305" "{PMID:Goetz 2020:32893963}" "" "c.4685T>C, p.Ile1562Thr Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94021934A>G" "" "VUS" ""
"0000773094" "0" "70" "1" "94495083" "94495083" "subst" "0.000124542" "01695" "ABCA4_000542" "g.94495083G>A" "11, 77176, 0, 0.0001425" "{PMID:Goetz 2020:32893963}" "" "c.4457C>T, p.Pro1486Leu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94029527G>A" "" "likely pathogenic (recessive)" ""
"0000773095" "0" "70" "1" "94528287" "94528287" "subst" "0" "01695" "ABCA4_001074" "g.94528287C>T" "" "{PMID:Goetz 2020:32893963}" "" "c.1783G>A, p.Ala595Thr Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94062731C>T" "" "likely pathogenic (recessive)" ""
"0000773096" "0" "90" "1" "94526212" "94526212" "subst" "1.22012E-5" "01695" "ABCA4_000075" "g.94526212G>A" "3, 120836, 0, 0.00002483" "{PMID:Goetz 2020:32893963}" "" "c.2041C>T, p.Arg681Stop Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94060656G>A" "" "pathogenic (recessive)" ""
"0000773097" "0" "70" "1" "94528818" "94528818" "subst" "0.00205975" "01695" "ABCA4_001239" "g.94528818C>T" "239, 121412, 0, 0.001969" "{PMID:Goetz 2020:32893963}" "" "c.1610G>A, p.Arg537His Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94063262C>T" "" "likely pathogenic (recessive)" ""
"0000773098" "0" "90" "1" "94568577" "94568577" "del" "0" "01695" "ABCA4_000201" "g.94568577del" "" "{PMID:Goetz 2020:32893963}" "" "c.564delA, p.Glu189SerfsX12 Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94103021del" "" "pathogenic (recessive)" ""
"0000773099" "0" "90" "1" "94526212" "94526212" "subst" "1.22012E-5" "01695" "ABCA4_000075" "g.94526212G>A" "3, 120836, 0, 0.00002483" "{PMID:Goetz 2020:32893963}" "" "c.2041C>T, p.Arg681Stop Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94060656G>A" "" "pathogenic (recessive)" ""
"0000773100" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "42, 120772, 0, 0.0003478" "{PMID:Goetz 2020:32893963}" "" "c.IVS40+5G>Ac.5714+5G>A, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000773101" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Goetz 2020:32893963}" "" "c.2588G>C, p.Gly863Ala Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000773102" "0" "70" "1" "94512614" "94512614" "subst" "8.12625E-6" "01695" "ABCA4_001989" "g.94512614G>A" "" "{PMID:Goetz 2020:32893963}" "" "c.2779C>T, p.Pro927Ser Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94047058G>A" "" "likely pathogenic (recessive)" ""
"0000773103" "0" "70" "1" "94502784" "94502784" "subst" "1.21904E-5" "01695" "ABCA4_001876" "g.94502784C>T" "" "{PMID:Goetz 2020:32893963}" "" "c.3730G>A, p.Ala1244Thr Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94037228C>T" "" "likely pathogenic (recessive)" ""
"0000773104" "0" "70" "1" "94495123" "94495123" "subst" "0.000117967" "01695" "ABCA4_000544" "g.94495123G>T" "" "{PMID:Goetz 2020:32893963}" "" "c.4417C>A, p.Leu1473Met Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94029567G>T" "" "likely pathogenic (recessive)" ""
"0000773105" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "30, 121388, 0, 0.0002471" "{PMID:Goetz 2020:32893963}" "" "c.3386G>T, p.Arg1129Leu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000773106" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "30, 121388, 0, 0.0002471" "{PMID:Goetz 2020:32893963}" "" "c.3386G>T, p.Arg1129Leu Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000773107" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "15, 121412, 0, 0.0001235" "{PMID:Goetz 2020:32893963}" "" "c.1622T>C, p.Leu541Pro Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000773108" "0" "70" "1" "94497447" "94497470" "dup" "0" "01695" "ABCA4_001857" "g.94497447_94497470dup" "" "{PMID:Goetz 2020:32893963}" "" "c.3995_4018dup24, p.Gln1332_Cys1339dup Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94031891_94031914dup" "" "likely pathogenic (recessive)" ""
"0000773109" "0" "90" "1" "94495009" "94495009" "dup" "0" "01695" "ABCA4_000087" "g.94495009dup" "" "{PMID:Goetz 2020:32893963}" "" "c.4537dupC, p.Gln1513ProfsX42 Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94029453dup" "" "pathogenic (recessive)" ""
"0000773110" "0" "70" "1" "94496583" "94496583" "subst" "2.03092E-5" "01695" "ABCA4_000190" "g.94496583A>G" "1, 120898, 0, 0.000008271" "{PMID:Goetz 2020:32893963}" "" "c.4222T>C, p.Trp1408Arg Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94031027A>G" "" "likely pathogenic (recessive)" ""
"0000773111" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "42, 120772, 0, 0.0003478" "{PMID:Goetz 2020:32893963}" "" "c.5714+5G>A, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000773112" "3" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "173, 121304, 0, 0.001426" "{PMID:Goetz 2020:32893963}" "" "c.3113C>T, p.Ala1038Val Homozygous" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000773113" "0" "90" "1" "94526212" "94526212" "subst" "1.22012E-5" "01695" "ABCA4_000075" "g.94526212G>A" "3, 120836, 0, 0.00002483" "{PMID:Goetz 2020:32893963}" "" "c.2041C>T, p.Arg681Stop Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94060656G>A" "" "pathogenic (recessive)" ""
"0000773114" "0" "90" "1" "94506884" "94506884" "subst" "0" "01695" "ABCA4_001903" "g.94506884G>A" "" "{PMID:Goetz 2020:32893963}" "" "c.3403C>T, p.Gln1135Stop Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94041328G>A" "" "pathogenic (recessive)" ""
"0000773115" "0" "90" "1" "94506960" "94506960" "subst" "0" "01695" "ABCA4_000629" "g.94506960T>C" "" "{PMID:Goetz 2020:32893963}" "" "c.3329-2A>G, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94041404T>C" "" "pathogenic (recessive)" ""
"0000773116" "0" "70" "1" "94577002" "94577002" "subst" "7.32398E-5" "01695" "ABCA4_000987" "g.94577002G>C" "" "{PMID:Goetz 2020:32893963}" "" "c.294C>G, p.Asn98Lys Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94111446G>C" "" "likely pathogenic (recessive)" ""
"0000773117" "0" "50" "1" "94467426" "94467426" "subst" "8.12691E-6" "01695" "ABCA4_001593" "g.94467426C>T" "" "{PMID:Goetz 2020:32893963}" "" "c.6270G>A, p.Pro2090Pro Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94001870C>T" "" "VUS" ""
"0000773118" "0" "70" "1" "94480241" "94480241" "subst" "7.71705E-5" "01695" "ABCA4_000446" "g.94480241G>A" "14, 121408, 0, 0.0001153" "{PMID:Goetz 2020:32893963}" "" "c.5318C>T, p.Ala1773Val Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94014685G>A" "" "likely pathogenic (recessive)" ""
"0000773119" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Goetz 2020:32893963}" "" "c.5882G>A, p.Gly1961Glu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000773120" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "26, 121404, 0, 0.0002142" "{PMID:Goetz 2020:32893963}" "" "c.6079C>T, p.Leu2027Phe Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic (recessive)" ""
"0000773121" "0" "90" "1" "94544895" "94544895" "subst" "1.62455E-5" "01695" "ABCA4_000329" "g.94544895G>A" "3, 121410, 0, 0.00002471" "{PMID:Goetz 2020:32893963}" "" "c.1222C>T, p.Arg408Stop Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94079339G>A" "" "pathogenic (recessive)" ""
"0000773122" "0" "90" "1" "94544895" "94544895" "subst" "1.62455E-5" "01695" "ABCA4_000329" "g.94544895G>A" "3, 121410, 0, 0.00002471" "{PMID:Goetz 2020:32893963}" "" "c.1222C>T, p.Arg408Stop Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94079339G>A" "" "pathogenic (recessive)" ""
"0000773123" "0" "90" "1" "94544895" "94544895" "subst" "1.62455E-5" "01695" "ABCA4_000329" "g.94544895G>A" "3, 121410, 0, 0.00002471" "{PMID:Goetz 2020:32893963}" "" "c.1222C>T, p.Arg408Stop Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94079339G>A" "" "pathogenic (recessive)" ""
"0000773124" "0" "70" "1" "94508385" "94508385" "subst" "4.06095E-6" "01695" "ABCA4_001932" "g.94508385T>C" "" "{PMID:Goetz 2020:32893963}" "" "c.3260A>G, p.Glu1087Gly Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94042829T>C" "" "likely pathogenic (recessive)" ""
"0000773125" "0" "90" "1" "94495009" "94495009" "dup" "0" "01695" "ABCA4_000087" "g.94495009dup" "" "{PMID:Goetz 2020:32893963}" "" "c.4537dupC, p.Gln1513Profs*42 Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94029453dup" "" "pathogenic (recessive)" ""
"0000773126" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "15, 121412, 0, 0.0001235" "{PMID:Goetz 2020:32893963}" "" "c.1622T>C, p.Leu541Pro Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000773127" "0" "70" "1" "94510178" "94510178" "subst" "0" "01695" "ABCA4_000664" "g.94510178A>C" "" "{PMID:Goetz 2020:32893963}" "" "c.3041T>G, p.Leu1401Arg Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94044622A>C" "" "likely pathogenic (recessive)" ""
"0000773128" "0" "50" "1" "94520853" "94520853" "subst" "8.14783E-6" "01695" "ABCA4_000729" "g.94520853C>T" "" "{PMID:Goetz 2020:32893963}" "" "c.2401G>A, p.Ala801Thr Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94055297C>T" "" "VUS" ""
"0000773129" "0" "70" "1" "94512524" "94512524" "subst" "0" "01695" "ABCA4_000689" "g.94512524G>T" "" "{PMID:Goetz 2020:32893963}" "" "c.2869C>A, p.Gln957Lys Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94046968G>T" "" "likely pathogenic (recessive)" ""
"0000773130" "0" "70" "1" "94528265" "94528265" "subst" "2.44212E-5" "01695" "ABCA4_000284" "g.94528265C>T" "2, 119074, 0, 0.0000168" "{PMID:Goetz 2020:32893963}" "" "c.1805G>A, p.Arg602Gln Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94062709C>T" "" "likely pathogenic (recessive)" ""
"0000773131" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "5406, 121330, 156, 0.04456" "{PMID:Goetz 2020:32893963}" "" "c.5603A>T, p.(Asn1868Ile) Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000773132" "0" "90" "1" "94466556" "94466556" "subst" "4.06164E-6" "01695" "ABCA4_000831" "g.94466556G>C" "" "{PMID:Goetz 2020:32893963}" "" "c.6386+2C>G, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94001000G>C" "" "pathogenic (recessive)" ""
"0000773133" "0" "70" "1" "94512530" "94512530" "subst" "2.0314E-5" "01695" "ABCA4_001985" "g.94512530C>T" "" "{PMID:Goetz 2020:32893963}" "" "c.2863G>A, p.Glu955Lys Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94046974C>T" "" "likely pathogenic (recessive)" ""
"0000773134" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Goetz 2020:32893963}" "" "c.5882G>A, p.Gly1961Glu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000773135" "0" "50" "1" "94473864" "94473864" "subst" "0.173865" "01695" "ABCA4_000885" "g.94473864C>T" "" "{PMID:Goetz 2020:32893963}" "" "c.IVS42-11G>A, Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008308C>T" "" "VUS" ""
"0000773136" "0" "90" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "227, 121250, 3, 0.001872" "{PMID:Goetz 2020:32893963}" "" "c.6320G>A, p.Arg2107His Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94001068C>T" "" "pathogenic (recessive)" ""
"0000773137" "0" "50" "1" "94487490" "94487490" "subst" "0.00122268" "01695" "ABCA4_000506" "g.94487490A>G" "158, 121114, 0, 0.001305" "{PMID:Goetz 2020:32893963}" "" "c.4685T>C, p.Ile1562Thr Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94021934A>G" "" "VUS" ""
"0000773138" "0" "90" "1" "94508435" "94508436" "dup" "0" "01695" "ABCA4_000998" "g.94508435_94508436dup" "" "{PMID:Goetz 2020:32893963}" "" "c.3210_3211dupGT, p.Ser1071CysfsX14 Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94042879_94042880dup" "" "pathogenic (recessive)" ""
"0000773139" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Goetz 2020:32893963}" "" "c.2588G>C, p.Gly863Ala Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000773140" "0" "70" "1" "94528818" "94528818" "subst" "0.00205975" "01695" "ABCA4_001239" "g.94528818C>T" "239, 121412, 0, 0.001969" "{PMID:Goetz 2020:32893963}" "" "c.1610G>A, p.Arg537His Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94063262C>T" "" "likely pathogenic (recessive)" ""
"0000773141" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "24, 119274, 0, 0.0002012" "{PMID:Goetz 2020:32893963}" "" "c.4139C>T, p.Pro1380Leu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000773142" "0" "50" "1" "94546265" "94546265" "subst" "2.04063E-5" "01695" "ABCA4_000355" "g.94546265G>A" "4, 120876, 0, 0.00003309" "{PMID:Goetz 2020:32893963}" "" "c.868C>T, p.Arg290Trp Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94080709G>A" "" "VUS" ""
"0000773143" "0" "70" "1" "94509049" "94509067" "del" "0" "01695" "ABCA4_001960" "g.94509049_94509067del" "" "{PMID:Goetz 2020:32893963}" "" "c.3051-35_17del19, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94043493_94043511del" "" "likely pathogenic (recessive)" ""
"0000773144" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Goetz 2020:32893963}" "" "c.5882G>A, p.Gly1961Glu Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000773145" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "26, 121404, 0, 0.0002142" "{PMID:Goetz 2020:32893963}" "" "c.6079C>T, p.Leu2027Phe Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic (recessive)" ""
"0000773146" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "173, 121304, 0, 0.001426" "{PMID:Goetz 2020:32893963}" "" "c.3113C>T, p.Ala1038Val Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000773147" "0" "70" "1" "94471055" "94471055" "subst" "0.00035346" "01695" "ABCA4_000029" "g.94471055C>T" "47, 121404, 1, 0.0003871" "{PMID:Goetz 2020:32893963}" "" "c.6089G>A, p.Arg2030Gln Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94005499C>T" "" "likely pathogenic (recessive)" ""
"0000773148" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "15, 121412, 0, 0.0001235" "{PMID:Goetz 2020:32893963}" "" "c.1622T>C, p.Leu541Pro Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000773149" "0" "70" "1" "94496583" "94496583" "subst" "2.03092E-5" "01695" "ABCA4_000190" "g.94496583A>G" "1, 120898, 0, 0.000008271" "{PMID:Goetz 2020:32893963}" "" "c.4222T>C, p.Trp1408Arg Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94031027A>G" "" "likely pathogenic (recessive)" ""
"0000773150" "0" "90" "1" "94508386" "94508386" "subst" "1.62443E-5" "01695" "ABCA4_000642" "g.94508386C>T" "4, 121376, 0, 0.00003296" "{PMID:Goetz 2020:32893963}" "" "c.3259G>A, p.Glu1087Lys Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94042830C>T" "" "pathogenic (recessive)" ""
"0000773151" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "173, 121304, 0, 0.001426" "{PMID:Goetz 2020:32893963}" "" "c.3113C>T, p.Ala1038Val Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000773152" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Goetz 2020:32893963}" "" "c.2588G>C, p.Gly863Ala Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000773153" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "26, 121404, 0, 0.0002142" "{PMID:Goetz 2020:32893963}" "" "c.6079C>T, p.Leu2027Phe Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic (recessive)" ""
"0000773154" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Goetz 2020:32893963}" "" "c.5461-10T>C, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000773155" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Goetz 2020:32893963}" "" "c.2588G>C, p.Gly863Ala Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000773156" "0" "50" "1" "94512602" "94512602" "subst" "0.000369717" "01695" "ABCA4_000052" "g.94512602C>T" "59, 120896, 0, 0.000488" "{PMID:Goetz 2020:32893963}" "" "c.2791G>A, p.Val931Met Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94047046C>T" "" "VUS" ""
"0000773157" "0" "50" "1" "94485148" "94485148" "subst" "4.27562E-6" "01695" "ABCA4_000099" "g.94485148A>G" "" "{PMID:Goetz 2020:32893963}" "" "c.5186T>C, p.Leu1729Pro Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94019592A>G" "" "VUS" ""
"0000773158" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "24, 119274, 0, 0.0002012" "{PMID:Goetz 2020:32893963}" "" "c.4139C>T, p.Pro1380Leu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000773159" "0" "50" "1" "94463425" "94463425" "subst" "0.000109787" "01695" "ABCA4_000853" "g.94463425G>C" "20, 121058, 0, 0.0001652" "{PMID:Goetz 2020:32893963}" "" "c.6721C>G, p.Leu2241Val Heterozygous" "" "Unknown" "" "" "0" "" "" "g.93997869G>C" "" "VUS" ""
"0000773160" "0" "70" "1" "94495177" "94495177" "subst" "1.22342E-5" "01695" "ABCA4_000023" "g.94495177A>G" "2, 109474, 0, 0.00001827" "{PMID:Goetz 2020:32893963}" "" "c.4363T>C, p.Cys1455Arg Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94029621A>G" "" "likely pathogenic (recessive)" ""
"0000773161" "0" "70" "1" "94574205" "94574205" "subst" "2.03029E-5" "01695" "ABCA4_001268" "g.94574205G>A" "" "{PMID:Goetz 2020:32893963}" "" "c.370C>T, p.(Arg124Cys) Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94108649G>A" "" "likely pathogenic (recessive)" ""
"0000773162" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Goetz 2020:32893963}" "" "c.2588G>C, p.Gly863Ala Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000773163" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "42, 120772, 0, 0.0003478" "{PMID:Goetz 2020:32893963}" "" "c.IVS40+5G>Ac.5714+5G>A, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000773164" "0" "90" "1" "94508435" "94508436" "dup" "0" "01695" "ABCA4_000998" "g.94508435_94508436dup" "" "{PMID:Goetz 2020:32893963}" "" "c.3210_3211dupGT, p.Ser1071CysfsX14 Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94042879_94042880dup" "" "pathogenic (recessive)" ""
"0000773165" "0" "30" "1" "94496602" "94496602" "subst" "0.0234538" "01695" "ABCA4_000913" "g.94496602G>T" "2957, 120728, 46, 0.02449" "{PMID:Goetz 2020:32893963}" "" "c.4203C>A, p.(Pro1401=) Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94031046G>T" "" "likely benign" ""
"0000773166" "0" "70" "1" "94508409" "94508409" "subst" "0" "01695" "ABCA4_001935" "g.94508409T>A" "" "{PMID:Goetz 2020:32893963}" "" "c.3236A>T, p.Asp1079Val Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94042853T>A" "" "likely pathogenic (recessive)" ""
"0000773167" "0" "50" "1" "94473864" "94473864" "subst" "0.173865" "01695" "ABCA4_000885" "g.94473864C>T" "" "{PMID:Goetz 2020:32893963}" "" "c.IVS42-11G>A, Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008308C>T" "" "VUS" ""
"0000773168" "0" "90" "1" "94509026" "94509026" "subst" "4.06497E-5" "01695" "ABCA4_000660" "g.94509026G>A" "5, 120988, 0, 0.00004133" "{PMID:Goetz 2020:32893963}" "" "c.3056C>T, p.Thr1019Met Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94043470G>A" "" "pathogenic (recessive)" ""
"0000773169" "0" "90" "1" "94508386" "94508386" "subst" "1.62443E-5" "01695" "ABCA4_000642" "g.94508386C>T" "4, 121376, 0, 0.00003296" "{PMID:Goetz 2020:32893963}" "" "c.3259G>A, p.Glu1087Lys Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94042830C>T" "" "pathogenic (recessive)" ""
"0000773170" "0" "10" "1" "94505604" "94505604" "subst" "0.00645586" "01695" "ABCA4_000092" "g.94505604A>C" "879, 64452, 44, 0.01364" "{PMID:Goetz 2020:32893963}" "" "c.3602T>G, p.Leu1201Arg Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94040048A>C" "" "benign" ""
"0000773171" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Goetz 2020:32893963}" "" "c.2588G>C, p.Gly863Ala Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000773172" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "24, 119274, 0, 0.0002012" "{PMID:Goetz 2020:32893963}" "" "c.4139C>T, p.Pro1380Leu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000773173" "0" "50" "1" "94564385" "94564385" "subst" "1.21833E-5" "01695" "ABCA4_001244" "g.94564385A>G" "" "{PMID:Goetz 2020:32893963}" "" "c.733T>C, p.Tyr245His Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94098829A>G" "" "VUS" ""
"0000773174" "0" "90" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "21, 121302, 0, 0.0001731" "{PMID:Goetz 2020:32893963}" "" "c.2894A>G, p.Asn965Ser Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94046943T>C" "" "pathogenic (recessive)" ""
"0000773175" "0" "70" "1" "94546207" "94546207" "subst" "0.000101665" "01695" "ABCA4_000083" "g.94546207G>C" "16, 121336, 0, 0.0001319" "{PMID:Goetz 2020:32893963}" "" "c.926C>G, p.Pro309rg Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94080651G>C" "" "likely pathogenic (recessive)" ""
"0000773176" "0" "70" "1" "94496583" "94496583" "subst" "2.03092E-5" "01695" "ABCA4_000190" "g.94496583A>G" "1, 120898, 0, 0.000008271" "{PMID:Goetz 2020:32893963}" "" "c.4222T>C, p.Trp1408Arg Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94031027A>G" "" "likely pathogenic (recessive)" ""
"0000773177" "0" "70" "1" "94577093" "94577093" "subst" "0" "01695" "ABCA4_000178" "g.94577093G>C" "" "{PMID:Goetz 2020:32893963}" "" "c.203C>G, p.Pro68Arg Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94111537G>C" "" "likely pathogenic (recessive)" ""
"0000773178" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Goetz 2020:32893963}" "" "c.2588G>C, p.Gly863Ala Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000773179" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "42, 120772, 0, 0.0003478" "{PMID:Goetz 2020:32893963}" "" "c.5714+5G>A, Intronic Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000773180" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "42, 120772, 0, 0.0003478" "{PMID:Goetz 2020:32893963}" "" "c.IVS40+5G>A, Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000773181" "0" "10" "1" "94497563" "94497563" "subst" "0.00492504" "01695" "ABCA4_000090" "g.94497563C>T" "757, 118654, 27, 0.00638" "{PMID:Goetz 2020:32893963}" "" "c.3899G>A, p.Arg1300Gln Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94032007C>T" "" "benign" ""
"0000773182" "0" "90" "1" "94495009" "94495009" "dup" "0" "01695" "ABCA4_000087" "g.94495009dup" "" "{PMID:Goetz 2020:32893963}" "" "c.4537dupC, p.Gln1513ProfsX42 Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94029453dup" "" "pathogenic (recessive)" ""
"0000773183" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "14, 121282, 0, 0.0001154" "{PMID:Goetz 2020:32893963}" "" "c.3322C>T, p.Arg1108Cys Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000773184" "0" "70" "1" "94543271" "94543271" "subst" "0" "01695" "ABCA4_001507" "g.94543271A>G" "" "{PMID:Goetz 2020:32893963}" "" "c.1529T>C, p.Leu510Pro Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94077715A>G" "" "likely pathogenic (recessive)" ""
"0000773185" "0" "70" "1" "94512481" "94512481" "subst" "4.06524E-6" "01695" "ABCA4_000679" "g.94512481G>T" "" "{PMID:Goetz 2020:32893963}" "" "c.2912C>A, p.Thr971Asn Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94046925G>T" "" "likely pathogenic (recessive)" ""
"0000773186" "0" "70" "1" "94467475" "94467475" "subst" "3.65542E-5" "01695" "ABCA4_000171" "g.94467475C>A" "" "{PMID:Goetz 2020:32893963}" "" "c.6221G>T, p.Gly2074Val Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94001919C>A" "" "likely pathogenic (recessive)" ""
"0000773187" "0" "90" "1" "94528132" "94528132" "subst" "4.06835E-6" "01695" "ABCA4_000773" "g.94528132C>T" "1, 120972, 0, 0.000008266" "{PMID:Goetz 2020:32893963}" "" "c.IVS13+1G>A, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94062576C>T" "" "pathogenic (recessive)" ""
"0000773188" "0" "90" "1" "94544895" "94544895" "subst" "1.62455E-5" "01695" "ABCA4_000329" "g.94544895G>A" "3, 121410, 0, 0.00002471" "{PMID:Goetz 2020:32893963}" "" "c.1222C>T, p.Arg408Stop Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94079339G>A" "" "pathogenic (recessive)" ""
"0000773189" "0" "50" "1" "94473864" "94473864" "subst" "0.173865" "01695" "ABCA4_000885" "g.94473864C>T" "" "{PMID:Goetz 2020:32893963}" "" "c.IVS42-11G>A, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94008308C>T" "" "VUS" ""
"0000773190" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "24, 119274, 0, 0.0002012" "{PMID:Goetz 2020:32893963}" "" "c.4139C>T, p.Pro1380Leu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000773191" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "24, 119274, 0, 0.0002012" "{PMID:Goetz 2020:32893963}" "" "c.4139C>T, p.Pro1380Leu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000773192" "0" "70" "1" "94577093" "94577093" "subst" "0" "01695" "ABCA4_000178" "g.94577093G>C" "" "{PMID:Goetz 2020:32893963}" "" "c.203C>G, p.Pro68Arg Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94111537G>C" "" "likely pathogenic (recessive)" ""
"0000773193" "0" "70" "1" "94497403" "94497403" "subst" "0" "01695" "ABCA4_001853" "g.94497403C>G" "" "{PMID:Goetz 2020:32893963}" "" "c.4059G>C, p.Gln1353His Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94031847C>G" "" "likely pathogenic (recessive)" ""
"0000773194" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "13, 121216, 0, 0.0001072" "{PMID:Goetz 2020:32893963}" "" "c.768G>T, p.Val256Val Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000773195" "0" "70" "1" "94564500" "94564500" "subst" "0.00100414" "01695" "ABCA4_000069" "g.94564500G>C" "162, 118200, 0, 0.001371" "{PMID:Goetz 2020:32893963}" "" "c.618C>G, p.Ser206Arg Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94098944G>C" "" "likely pathogenic (recessive)" ""
"0000773196" "3" "70" "1" "94466638" "94466638" "subst" "2.8465E-5" "01695" "ABCA4_000841" "g.94466638G>T" "6, 121126, 0, 0.00004954" "{PMID:Goetz 2020:32893963}" "" "c.6306C>A, p.Asp2102Glu Homozygous" "" "Unknown" "" "" "0" "" "" "g.94001082G>T" "" "likely pathogenic (recessive)" ""
"0000773197" "0" "70" "1" "94528143" "94528143" "subst" "0.00124448" "01695" "ABCA4_000076" "g.94528143C>T" "196, 121108, 1, 0.001618" "{PMID:Goetz 2020:32893963}" "" "c.1927G>A, p.Val643Met Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94062587C>T" "" "likely pathogenic (recessive)" ""
"0000773198" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Goetz 2020:32893963}" "" "c.5461-10T>CC, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000773199" "0" "70" "1" "94520801" "94520801" "subst" "0.000211489" "01695" "ABCA4_000724" "g.94520801C>T" "24, 121324, 0, 0.0001978" "{PMID:Goetz 2020:32893963}" "" "c.2453G>A, p.Gly818Glu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94055245C>T" "" "likely pathogenic (recessive)" ""
"0000773200" "0" "90" "1" "94508435" "94508436" "dup" "0" "01695" "ABCA4_000998" "g.94508435_94508436dup" "" "{PMID:Goetz 2020:32893963}" "" "c.3210_3211dupGT, p.Ser1071CysfsX14 Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94042879_94042880dup" "" "pathogenic (recessive)" ""
"0000773201" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Goetz 2020:32893963}" "" "c.5882G>A, p.Gly1961Glu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000773202" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "14, 121282, 0, 0.0001154" "{PMID:Goetz 2020:32893963}" "" "c.3322C>T, p.Arg1108Cys Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000773203" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Goetz 2020:32893963}" "" "c.5882G>A, p.Gly1961Glu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000773204" "0" "50" "1" "94496580" "94496580" "subst" "0" "01695" "ABCA4_000564" "g.94496580T>C" "" "{PMID:Goetz 2020:32893963}" "" "c.4225A>G, p.Ile1409Val Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94031024T>C" "" "VUS" ""
"0000773205" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "26, 121404, 0, 0.0002142" "{PMID:Goetz 2020:32893963}" "" "c.6079C>T, p.Leu2027Phe Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic (recessive)" ""
"0000773206" "0" "70" "1" "94486895" "94486895" "subst" "3.24923E-5" "01695" "ABCA4_000484" "g.94486895C>T" "7, 121398, 0, 0.00005766" "{PMID:Goetz 2020:32893963}" "" "c.4919G>A, p.Arg1640Gln Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94021339C>T" "" "likely pathogenic (recessive)" ""
"0000773207" "0" "90" "1" "94544185" "94544185" "subst" "8.12137E-6" "01695" "ABCA4_000177" "g.94544185C>T" "1, 121412, 0, 0.000008236" "{PMID:Goetz 2020:32893963}" "" "c.1317G>A, p.Trp439Stop Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94078629C>T" "" "pathogenic (recessive)" ""
"0000773208" "0" "90" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "21, 121302, 0, 0.0001731" "{PMID:Goetz 2020:32893963}" "" "c.2894A>G, p.Asn965Ser Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94046943T>C" "" "pathogenic (recessive)" ""
"0000773209" "0" "70" "1" "94548949" "94548949" "subst" "0" "01695" "ABCA4_002164" "g.94548949A>G" "" "{PMID:Goetz 2020:32893963}" "" "c.817T>C, p.Trp273Arg Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94083393A>G" "" "likely pathogenic (recessive)" ""
"0000773210" "0" "50" "1" "94526230" "94526230" "subst" "7.32136E-5" "01695" "ABCA4_000760" "g.94526230C>T" "6, 120152, 0, 0.00004994" "{PMID:Goetz 2020:32893963}" "" "c.2023G>A, p.Val675Ile Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94060674C>T" "" "VUS" ""
"0000773211" "0" "50" "1" "94487404" "94487404" "subst" "0.00244055" "01695" "ABCA4_000497" "g.94487404C>T" "317, 121146, 0, 0.002617" "{PMID:Goetz 2020:32893963}" "" "c.4771G>A, p.Gly1591Arg Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94021848C>T" "" "VUS" ""
"0000773212" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "15, 121412, 0, 0.0001235" "{PMID:Goetz 2020:32893963}" "" "c.1622T>C, p.Leu541Pro Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000773213" "0" "70" "1" "94490567" "94490567" "subst" "5.68528E-5" "01695" "ABCA4_000026" "g.94490567G>A" "4, 121406, 0, 0.00003295" "{PMID:Goetz 2020:32893963}" "" "c.4577C>T, p.Thr1526Met Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94025011G>A" "" "likely pathogenic (recessive)" ""
"0000773214" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "5406, 121330, 156, 0.04456" "{PMID:Goetz 2020:32893963}" "" "c.5603A>T, p.Asp.Asn1868Ile Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000773215" "0" "50" "1" "94476495" "94476495" "subst" "0" "01695" "ABCA4_000424" "g.94476495A>G" "" "{PMID:Goetz 2020:32893963}" "" "c.IVS39-10T>C, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94010939A>G" "" "VUS" ""
"0000773216" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "42, 120772, 0, 0.0003478" "{PMID:Goetz 2020:32893963}" "" "c.5714+5G>A, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000773217" "0" "90" "1" "94510253" "94510253" "subst" "0.000247694" "01695" "ABCA4_000108" "g.94510253A>G" "36, 121412, 0, 0.0002965" "{PMID:Goetz 2020:32893963}" "" "c.2966T>C, p.Val989la Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94044697A>G" "" "pathogenic (recessive)" ""
"0000773218" "0" "50" "1" "94496039" "94496039" "subst" "0.00157963" "01695" "ABCA4_000552" "g.94496039C>T" "173, 121380, 1, 0.001425" "{PMID:Goetz 2020:32893963}" "" "c.4297G>A, p.Val1433Ile Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94030483C>T" "" "VUS" ""
"0000773219" "0" "70" "1" "94466422" "94466422" "subst" "2.43651E-5" "01695" "ABCA4_000817" "g.94466422C>T" "3, 121398, 0, 0.00002471" "{PMID:Goetz 2020:32893963}" "" "c.6449G>A, p.Cys2150Tyr Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94000866C>T" "" "likely pathogenic (recessive)" ""
"0000773220" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Goetz 2020:32893963}" "" "c.2588G>C, p.Gly863Ala Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000773221" "0" "70" "1" "94544258" "94544258" "subst" "0" "01695" "ABCA4_001071" "g.94544258T>C" "" "{PMID:Goetz 2020:32893963}" "" "c.1244A>G, p.Asn415Ser Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94078702T>C" "" "likely pathogenic (recessive)" ""
"0000773222" "0" "90" "1" "94497468" "94497468" "subst" "0" "01695" "ABCA4_000582" "g.94497468G>A" "" "{PMID:Goetz 2020:32893963}" "" "c.3994C>T, p.Gln1332Stop Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94031912G>A" "" "pathogenic (recessive)" ""
"0000773223" "0" "90" "1" "94526212" "94526212" "subst" "1.22012E-5" "01695" "ABCA4_000075" "g.94526212G>A" "3, 120836, 0, 0.00002483" "{PMID:Goetz 2020:32893963}" "" "c.2041C>T, p.Arg681Stop Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94060656G>A" "" "pathogenic (recessive)" ""
"0000773224" "3" "90" "1" "94514455" "94514455" "del" "0" "01695" "ABCA4_000699" "g.94514455del" "" "{PMID:Goetz 2020:32893963}" "" "c.2713delG, p.Glu905ArgfsX27 Homozygous" "" "Unknown" "" "" "0" "" "" "g.94048899del" "" "pathogenic (recessive)" ""
"0000773225" "3" "90" "1" "94514455" "94514455" "del" "0" "01695" "ABCA4_000699" "g.94514455del" "" "{PMID:Goetz 2020:32893963}" "" "c.2713delG, p.Glu905ArgfsX27 Homozygous" "" "Unknown" "" "" "0" "" "" "g.94048899del" "" "pathogenic (recessive)" ""
"0000773226" "0" "90" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "21, 121302, 0, 0.0001731" "{PMID:Goetz 2020:32893963}" "" "c.2894A>G, p.Asn965Ser Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94046943T>C" "" "pathogenic (recessive)" ""
"0000773227" "0" "50" "1" "94526211" "94526211" "subst" "2.43974E-5" "01695" "ABCA4_000758" "g.94526211C>T" "2, 120882, 0, 0.00001655" "{PMID:Goetz 2020:32893963}" "" "c.2042G>A, p.Arg681Gln Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94060655C>T" "" "VUS" ""
"0000773228" "0" "90" "1" "94508435" "94508436" "dup" "0" "01695" "ABCA4_000998" "g.94508435_94508436dup" "" "{PMID:Goetz 2020:32893963}" "" "c.3210_3211dupGT, p.Ser1071CysfsX14 Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94042879_94042880dup" "" "pathogenic (recessive)" ""
"0000773229" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "26, 121404, 0, 0.0002142" "{PMID:Goetz 2020:32893963}" "" "c.6079C>T, p.Leu2027Phe Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic (recessive)" ""
"0000773230" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Goetz 2020:32893963}" "" "c.2588G>C, p.Gly863Ala Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000773231" "0" "50" "1" "94486888" "94486888" "subst" "3.65548E-5" "01695" "ABCA4_000137" "g.94486888G>C" "4, 121404, 0, 0.00003295" "{PMID:Goetz 2020:32893963}" "" "c.4926C>G, p.Ser1642Arg Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94021332G>C" "" "VUS" ""
"0000773232" "0" "50" "1" "94486888" "94486888" "subst" "3.65548E-5" "01695" "ABCA4_000137" "g.94486888G>C" "4, 121404, 0, 0.00003295" "{PMID:Goetz 2020:32893963}" "" "c.4926C>G, p.Ser1642Arg Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94021332G>C" "" "VUS" ""
"0000773233" "0" "70" "1" "94484001" "94484001" "subst" "0" "01695" "ABCA4_000016" "g.94484001C>T" "" "{PMID:Goetz 2020:32893963}" "" "c.5196+1137G>A, Intronic Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94018445C>T" "" "likely pathogenic (recessive)" ""
"0000773234" "0" "70" "1" "94467467" "94467467" "subst" "4.06164E-6" "01695" "ABCA4_000780" "g.94467467G>A" "" "{PMID:Goetz 2020:32893963}" "" "c.6229C>T, p.Arg2077Trp Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94001911G>A" "" "likely pathogenic (recessive)" ""
"0000773235" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Goetz 2020:32893963}" "" "c.2588G>C, p.Gly863Ala Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000773236" "0" "10" "1" "94505604" "94505604" "subst" "0.00645586" "01695" "ABCA4_000092" "g.94505604A>C" "879, 64452, 44, 0.01364" "{PMID:Goetz 2020:32893963}" "" "c.3602T>G, p.Leu1201Arg Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94040048A>C" "" "benign" ""
"0000773237" "0" "70" "1" "94512566" "94512566" "subst" "7.31149E-5" "01695" "ABCA4_000693" "g.94512566G>A" "6, 121172, 0, 0.00004952" "{PMID:Goetz 2020:32893963}" "" "c.2827C>T, p.Arg943Trp Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94047010G>A" "" "likely pathogenic (recessive)" ""
"0000773238" "0" "90" "1" "94474364" "94474365" "del" "0" "01695" "ABCA4_001656" "g.94474364_94474365del" "" "{PMID:Goetz 2020:32893963}" "" "c.5778_5779delAA, p.Arg1927AsnfsX7 Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008808_94008809del" "" "pathogenic (recessive)" ""
"0000773239" "0" "70" "1" "94461749" "94461749" "subst" "0.00632561" "01695" "ABCA4_001198" "g.94461749C>T" "" "{PMID:Goetz 2020:32893963}" "" "c.6732G>A, p.Val2244Val Heterozygous" "" "Unknown" "" "" "0" "" "" "g.93996193C>T" "" "likely pathogenic (recessive)" ""
"0000773240" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "24, 119274, 0, 0.0002012" "{PMID:Goetz 2020:32893963}" "" "c.4139C>T, p.Pro1380Leu Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000773241" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "24, 119274, 0, 0.0002012" "{PMID:Goetz 2020:32893963}" "" "c.4139C>T, p.Pro1380Leu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000773242" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "14, 121282, 0, 0.0001154" "{PMID:Goetz 2020:32893963}" "" "c.3322C>T, p.Arg1108Cys Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000773243" "0" "90" "1" "94496571" "94496571" "subst" "4.06174E-6" "01695" "ABCA4_000111" "g.94496571G>A" "" "{PMID:Goetz 2020:32893963}" "" "c.4234C>T, p.Gln1412Stop Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94031015G>A" "" "pathogenic (recessive)" ""
"0000773244" "0" "70" "1" "94495036" "94495036" "subst" "0" "01695" "ABCA4_001499" "g.94495036A>C" "" "{PMID:Goetz 2020:32893963}" "" "c.4504T>G, p.Cys1502Gly* Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94029480A>C" "" "likely pathogenic (recessive)" ""
"0000773245" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "24, 119274, 0, 0.0002012" "{PMID:Goetz 2020:32893963}" "" "c.4139C>T, p.Pro1380Leu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000773246" "0" "90" "1" "94485165" "94485165" "subst" "0" "01695" "ABCA4_001016" "g.94485165G>C" "" "{PMID:Goetz 2020:32893963}" "" "c.5169C>G, p.Tyr1723Stop Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94019609G>C" "" "pathogenic (recessive)" ""
"0000773247" "0" "90" "1" "94495009" "94495009" "dup" "0" "01695" "ABCA4_000087" "g.94495009dup" "" "{PMID:Goetz 2020:32893963}" "" "c.4538insC, p.Gln1513fs Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94029453dup" "" "pathogenic (recessive)" ""
"0000773248" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "14, 121282, 0, 0.0001154" "{PMID:Goetz 2020:32893963}" "" "c.3322C>T, p.Arg1108Cys Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000773249" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Goetz 2020:32893963}" "" "c.5461-10T>C, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000773250" "0" "50" "1" "94546096" "94546096" "subst" "4.06583E-6" "01695" "ABCA4_000337" "g.94546096T>G" "" "{PMID:Goetz 2020:32893963}" "" "c.1037A>C, p.Lys346Thr Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94080540T>G" "" "VUS" ""
"0000773251" "0" "50" "1" "94486888" "94486888" "subst" "3.65548E-5" "01695" "ABCA4_000137" "g.94486888G>C" "4, 121404, 0, 0.00003295" "{PMID:Goetz 2020:32893963}" "" "c.4926C>G, p.Ser1642Arg Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94021332G>C" "" "VUS" ""
"0000773252" "0" "70" "1" "94487251" "94487251" "subst" "2.85679E-5" "01695" "ABCA4_000490" "g.94487251G>T" "3, 113672, 0, 0.00002639" "{PMID:Goetz 2020:32893963}" "" "c.4793C>A, p.Ala1598Asp Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94021695G>T" "" "likely pathogenic (recessive)" ""
"0000773253" "0" "70" "1" "94458793" "94458793" "subst" "0" "01695" "ABCA4_001554" "g.94458793T>G" "" "{PMID:Goetz 2020:32893963}" "" "c.6822A>C, p.*2274Cys Heterozygous" "" "Unknown" "" "" "0" "" "" "g.93993237T>G" "" "likely pathogenic (recessive)" ""
"0000773254" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "173, 121304, 0, 0.001426" "{PMID:Goetz 2020:32893963}" "" "c.3113C>T, p.Ala1038Val Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000773255" "0" "70" "1" "94486889" "94486889" "subst" "0.000995166" "01695" "ABCA4_000895" "g.94486889C>A" "148, 121396, 1, 0.001219" "{PMID:Goetz 2020:32893963}" "" "c.4925G>T, p.(Ser1642Ile) Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94021333C>A" "" "likely pathogenic (recessive)" ""
"0000773256" "0" "70" "1" "94471067" "94471067" "subst" "4.06237E-6" "01695" "ABCA4_001001" "g.94471067A>G" "" "{PMID:Goetz 2020:32893963}" "" "c.6077T>C, p.Leu2026Pro Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94005511A>G" "" "likely pathogenic (recessive)" ""
"0000773257" "0" "30" "1" "94461754" "94461754" "subst" "0.0642229" "01695" "ABCA4_000951" "g.94461754A>G" "" "{PMID:Goetz 2020:32893963}" "" "c.6730-3T>C, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.93996198A>G" "" "likely benign" ""
"0000773258" "0" "70" "1" "94578598" "94578598" "subst" "0" "01695" "ABCA4_000251" "g.94578598A>G" "" "{PMID:Goetz 2020:32893963}" "" "c.91T>C, p.Trp31Arg Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94113042A>G" "" "likely pathogenic (recessive)" ""
"0000773259" "3" "70" "1" "94546283" "94546283" "subst" "8.18311E-5" "01695" "ABCA4_000356" "g.94546283A>G" "18, 120572, 0, 0.0001493" "{PMID:Goetz 2020:32893963}" "" "c.859-9T>C, Homozygous" "" "Unknown" "" "" "0" "" "" "g.94080727A>G" "" "likely pathogenic (recessive)" ""
"0000773260" "0" "50" "1" "94520708" "94520708" "subst" "0.00102774" "01695" "ABCA4_000074" "g.94520708A>G" "162, 121382, 1, 0.001335" "{PMID:Goetz 2020:32893963}" "" "c.2546T>C, p.Val849la Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94055152A>G" "" "VUS" ""
"0000773261" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "42, 120772, 0, 0.0003478" "{PMID:Goetz 2020:32893963}" "" "c.IVS40+5G>A, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000773262" "0" "70" "1" "94546118" "94546118" "subst" "8.13326E-6" "01695" "ABCA4_000082" "g.94546118A>C" "" "{PMID:Goetz 2020:32893963}" "" "c.1015T>G, p.Trp339Gly Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94080562A>C" "" "likely pathogenic (recessive)" ""
"0000773263" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "5406, 121330, 156, 0.04456" "{PMID:Goetz 2020:32893963}" "" "c.5603A>T, p.(Asn1868Ile) Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000773264" "0" "50" "1" "94564451" "94564451" "subst" "0.000150413" "01695" "ABCA4_000378" "g.94564451T>G" "23, 121120, 0, 0.0001899" "{PMID:Goetz 2020:32893963}" "" "c.667A>C, p.Lys223Gln Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94098895T>G" "" "VUS" ""
"0000773265" "0" "70" "1" "94528818" "94528818" "subst" "0.00205975" "01695" "ABCA4_001239" "g.94528818C>T" "239, 121412, 0, 0.001969" "{PMID:Goetz 2020:32893963}" "" "c.1610G>A, p.Arg537His Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94063262C>T" "" "likely pathogenic (recessive)" ""
"0000773266" "0" "70" "1" "94490534" "94490534" "subst" "0.000125895" "01695" "ABCA4_000520" "g.94490534G>A" "14, 121396, 0, 0.0001153" "{PMID:Goetz 2020:32893963}" "" "c.4610C>T, p.Thr1537Met Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94024978G>A" "" "likely pathogenic (recessive)" ""
"0000773267" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "5406, 121330, 156, 0.04456" "{PMID:Goetz 2020:32893963}" "" "c.5603A>T, p.Asp.Asn1868Ile Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000773268" "0" "70" "1" "94461749" "94461749" "subst" "0.00632561" "01695" "ABCA4_001198" "g.94461749C>T" "" "{PMID:Goetz 2020:32893963}" "" "c.6732G>A, p.Val2244Val Heterozygous" "" "Unknown" "" "" "0" "" "" "g.93996193C>T" "" "likely pathogenic (recessive)" ""
"0000773269" "0" "50" "1" "94487490" "94487490" "subst" "0.00122268" "01695" "ABCA4_000506" "g.94487490A>G" "158, 121114, 0, 0.001305" "{PMID:Goetz 2020:32893963}" "" "c.4685T>C, p.Ile1562Thr Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94021934A>G" "" "VUS" ""
"0000773270" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "5406, 121330, 156, 0.04456" "{PMID:Goetz 2020:32893963}" "" "c.5603A>T, p.Asp.Asn1868Ile Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000773271" "0" "70" "1" "94502844" "94502844" "subst" "1.21954E-5" "01695" "ABCA4_001880" "g.94502844A>C" "" "{PMID:Goetz 2020:32893963}" "" "c.3670T>G, p.Cys1224Gly Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94037288A>C" "" "likely pathogenic (recessive)" ""
"0000773272" "0" "70" "1" "94506923" "94506923" "subst" "2.43657E-5" "01695" "ABCA4_000012" "g.94506923C>T" "3, 121394, 0, 0.00002471" "{PMID:Goetz 2020:32893963}" "" "c.3364G>A, p.Glu1122Lys Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94041367C>T" "" "likely pathogenic (recessive)" ""
"0000773273" "0" "30" "1" "94461754" "94461754" "subst" "0.0642229" "01695" "ABCA4_000951" "g.94461754A>G" "" "{PMID:Goetz 2020:32893963}" "" "c.6730-3T>C, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.93996198A>G" "" "likely benign" ""
"0000773274" "0" "70" "1" "94490550" "94490550" "subst" "0.000105588" "01695" "ABCA4_000523" "g.94490550C>T" "11, 121406, 0, 0.00009061" "{PMID:Goetz 2020:32893963}" "" "c.4594G>A, p.Asp1532Asn Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94024994C>T" "" "likely pathogenic (recessive)" ""
"0000773275" "0" "90" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "227, 121250, 3, 0.001872" "{PMID:Goetz 2020:32893963}" "" "c.6320G>A, p.Arg2107His Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94001068C>T" "" "pathogenic (recessive)" ""
"0000773276" "0" "70" "1" "94508985" "94508985" "subst" "1.21906E-5" "01695" "ABCA4_001950" "g.94508985T>C" "" "{PMID:Goetz 2020:32893963}" "" "c.3097A>G, p.Lys1033Glu Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94043429T>C" "" "likely pathogenic (recessive)" ""
"0000773277" "0" "90" "1" "94544158" "94544158" "del" "0" "01695" "ABCA4_000315" "g.94544158del" "" "{PMID:Goetz 2020:32893963}" "" "c.1344delG, p.Met448IlefsX3 Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94078602del" "" "pathogenic (recessive)" ""
"0000773278" "3" "90" "1" "94568663" "94568663" "subst" "0" "01695" "ABCA4_000209" "g.94568663C>A" "" "{PMID:Goetz 2020:32893963}" "" "c.478G>T, p.Glu160Stop Homozygous" "" "Unknown" "" "" "0" "" "" "g.94103107C>A" "" "pathogenic (recessive)" ""
"0000773279" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Goetz 2020:32893963}" "" "c.5461-10T>C, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000773280" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Goetz 2020:32893963}" "" "c.5461-10T>C, Intronic Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000773281" "0" "90" "1" "94508353" "94508353" "subst" "2.8431E-5" "01695" "ABCA4_000141" "g.94508353G>A" "4, 121358, 0, 0.00003296" "{PMID:Goetz 2020:32893963}" "" "c.3292C>T, p.Arg1098Cys Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94042797G>A" "" "pathogenic (recessive)" ""
"0000773282" "0" "90" "1" "94564457" "94564457" "del" "0" "01695" "ABCA4_000379" "g.94564457del" "" "{PMID:Goetz 2020:32893963}" "" "c.664delG, p.Ala222GlnfsX19 Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94098901del" "" "pathogenic (recessive)" ""
"0000773283" "0" "70" "1" "94461749" "94461749" "subst" "0.00632561" "01695" "ABCA4_001198" "g.94461749C>T" "" "{PMID:Goetz 2020:32893963}" "" "c.6732G>A, p.(Val2244=) Heterozygous" "" "Unknown" "" "" "0" "" "" "g.93996193C>T" "" "likely pathogenic (recessive)" ""
"0000773284" "0" "90" "1" "94466628" "94466628" "subst" "0.000109748" "01695" "ABCA4_000094" "g.94466628G>A" "14, 121222, 0, 0.0001155" "{PMID:Goetz 2020:32893963}" "" "c.6316C>T, p.Arg2106Cys Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94001072G>A" "" "pathogenic (recessive)" ""
"0000773285" "0" "50" "1" "94474320" "94474320" "subst" "4.06065E-6" "01695" "ABCA4_000407" "g.94474320T>G" "" "{PMID:Goetz 2020:32893963}" "" "c.5822A>C, p.His1941Pro Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94008764T>G" "" "VUS" ""
"0000773286" "0" "70" "1" "94528151" "94528151" "subst" "0" "01695" "ABCA4_000265" "g.94528151G>A" "" "{PMID:Goetz 2020:32893963}" "" "c.1919C>T, p.Pro640Leu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94062595G>A" "" "likely pathogenic (recessive)" ""
"0000773287" "0" "90" "1" "94474320" "94474320" "del" "0" "01695" "ABCA4_001653" "g.94474320del" "" "{PMID:Goetz 2020:32893963}" "" "c.5822del, p.His1941Leufs*3 Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94008764del" "" "pathogenic (recessive)" ""
"0000773288" "0" "50" "1" "94496010" "94496010" "subst" "1.62434E-5" "01695" "ABCA4_000549" "g.94496010G>T" "3, 121366, 0, 0.00002472" "{PMID:Goetz 2020:32893963}" "" "c.4326C>A, p.Asn1442Lys Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94030454G>T" "" "VUS" ""
"0000773289" "0" "90" "1" "94564442" "94564454" "del" "0" "01695" "ABCA4_000377" "g.94564442_94564454del" "" "{PMID:Goetz 2020:32893963}" "" "c.666_678del13, p.Lys223Metfs*14 Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94098886_94098898del" "" "pathogenic (recessive)" ""
"0000773290" "0" "50" "1" "94485278" "94485278" "subst" "0.000487317" "01695" "ABCA4_000101" "g.94485278C>T" "55, 106206, 0, 0.0005179" "{PMID:Goetz 2020:32893963}" "" "c.5056G>A, p.Val686Met Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94019722C>T" "" "VUS" ""
"0000773291" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "173, 121304, 0, 0.001426" "{PMID:Goetz 2020:32893963}" "" "c.3113C>T, p.Ala1038Val Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000773292" "0" "30" "1" "94496602" "94496602" "subst" "0.0234538" "01695" "ABCA4_000913" "g.94496602G>T" "2957, 120728, 46, 0.02449" "{PMID:Goetz 2020:32893963}" "" "c.4203C>A, p.Pro1401Pro Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94031046G>T" "" "likely benign" ""
"0000773293" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "24, 119274, 0, 0.0002012" "{PMID:Goetz 2020:32893963}" "" "c.4139C>T, p.Pro1380Leu heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000773294" "3" "50" "1" "94578548" "94578548" "subst" "0" "01695" "ABCA4_002240" "g.94578548C>T" "" "{PMID:Goetz 2020:32893963}" "" "c.141A>G, p.Pro47= Homozygous" "" "Unknown" "" "" "0" "" "" "" "" "VUS" ""
"0000773295" "0" "70" "1" "94476830" "94476830" "subst" "8.12671E-6" "01695" "ABCA4_001680" "g.94476830A>T" "" "{PMID:Goetz 2020:32893963}" "" "c.5572T>A, p.Tyr1858Asn Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94011274A>T" "" "likely pathogenic (recessive)" ""
"0000773296" "0" "70" "1" "94490567" "94490567" "subst" "5.68528E-5" "01695" "ABCA4_000026" "g.94490567G>A" "4, 121406, 0, 0.00003295" "{PMID:Goetz 2020:32893963}" "" "c.4577C>T, p.Thr1526Met Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94025011G>A" "" "likely pathogenic (recessive)" ""
"0000773297" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Goetz 2020:32893963}" "" "c.5461-10T>C, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000773298" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Goetz 2020:32893963}" "" "c.5882G>A, p.Gly1961Glu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000773299" "3" "70" "1" "94471049" "94471049" "subst" "0" "01695" "ABCA4_000795" "g.94471049T>C" "" "{PMID:Goetz 2020:32893963}" "" "c.6095A>G, p.His2032Arg Homozygous" "" "Unknown" "" "" "0" "" "" "g.94005493T>C" "" "likely pathogenic (recessive)" ""
"0000773300" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "15, 121412, 0, 0.0001235" "{PMID:Goetz 2020:32893963}" "" "c.1622T>C, p.Leu541Pro Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000773301" "0" "90" "1" "94568577" "94568577" "del" "0" "01695" "ABCA4_000201" "g.94568577del" "" "{PMID:Goetz 2020:32893963}" "" "c.564delA, p.Glu189SerfsX12 Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94103021del" "" "pathogenic (recessive)" ""
"0000773302" "0" "70" "1" "94476424" "94476424" "subst" "2.43694E-5" "01695" "ABCA4_000418" "g.94476424C>T" "" "{PMID:Goetz 2020:32893963}" "" "c.5646G>A, p.Met1882Ile Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94010868C>T" "" "likely pathogenic (recessive)" ""
"0000773303" "0" "50" "1" "94495094" "94495094" "subst" "0" "01695" "ABCA4_001812" "g.94495094G>T" "" "{PMID:Goetz 2020:32893963}" "" "c.4446C>A, p.Val1482Val Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94029538G>T" "" "VUS" ""
"0000773304" "0" "70" "1" "94471154" "94471154" "subst" "0.156733" "01695" "ABCA4_000881" "g.94471154C>T" "" "{PMID:Goetz 2020:32893963}" "" "c.IVS43-16G>A, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94005598C>T" "" "likely pathogenic (recessive)" ""
"0000773305" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Goetz 2020:32893963}" "" "c.2588G>C, p.(Gly863Ala) Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000773306" "0" "70" "1" "94510271" "94510271" "subst" "0" "01695" "ABCA4_000670" "g.94510271G>A" "" "{PMID:Goetz 2020:32893963}" "" "c.2948C>T, p.Thr983Ile Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94044715G>A" "" "likely pathogenic (recessive)" ""
"0000773307" "0" "50" "1" "94520708" "94520708" "subst" "0.00102774" "01695" "ABCA4_000074" "g.94520708A>G" "162, 121382, 1, 0.001335" "{PMID:Goetz 2020:32893963}" "" "c.2546T>C, p.Val849la Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94055152A>G" "" "VUS" ""
"0000773308" "0" "50" "1" "94526230" "94526230" "subst" "7.32136E-5" "01695" "ABCA4_000760" "g.94526230C>T" "6, 120152, 0, 0.00004994" "{PMID:Goetz 2020:32893963}" "" "c.2023G>A, p.Val675Ile Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94060674C>T" "" "VUS" ""
"0000773309" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Goetz 2020:32893963}" "" "c.IVS38-10 T>C, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000773310" "0" "90" "1" "94495009" "94495009" "dup" "0" "01695" "ABCA4_000087" "g.94495009dup" "" "{PMID:Goetz 2020:32893963}" "" "c.4537dupC, p.Gln1513ProfsX42 Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94029453dup" "" "pathogenic (recessive)" ""
"0000773311" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Goetz 2020:32893963}" "" "c.5461-10T>C, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000773312" "0" "30" "1" "94461754" "94461754" "subst" "0.0642229" "01695" "ABCA4_000951" "g.94461754A>G" "" "{PMID:Goetz 2020:32893963}" "" "c.6730-3T>C, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.93996198A>G" "" "likely benign" ""
"0000773313" "0" "90" "1" "94528784" "94528784" "subst" "0" "01695" "ABCA4_001475" "g.94528784C>T" "" "{PMID:Goetz 2020:32893963}" "" "c.1644G>A, p.Trp548Stop Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94063228C>T" "" "pathogenic (recessive)" ""
"0000773314" "0" "70" "1" "94574147" "94574147" "subst" "8.12236E-6" "01695" "ABCA4_000213" "g.94574147G>A" "" "{PMID:Goetz 2020:32893963}" "" "c.428C>T, p.Pro143Leu Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94108591G>A" "" "likely pathogenic (recessive)" ""
"0000773315" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Goetz 2020:32893963}" "" "c.5461-10T>C, Intronic Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000773316" "0" "50" "1" "94487404" "94487404" "subst" "0.00244055" "01695" "ABCA4_000497" "g.94487404C>T" "317, 121146, 0, 0.002617" "{PMID:Goetz 2020:32893963}" "" "c.4771G>A, p.Gly1591Arg Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94021848C>T" "" "VUS" ""
"0000773317" "0" "70" "1" "94522239" "94522239" "subst" "2.03305E-5" "01695" "ABCA4_000736" "g.94522239A>T" "1, 119332, 0, 0.00000838" "{PMID:Goetz 2020:32893963}" "" "c.2300T>A, p.Val767Asp Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94056683A>T" "" "likely pathogenic (recessive)" ""
"0000773318" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "5406, 121330, 156, 0.04456" "{PMID:Goetz 2020:32893963}" "" "c.5603A>T, p.Asp.Asn1868Ile Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000773319" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Goetz 2020:32893963}" "" "c.2588G>C, p.Gly863Ala Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000773320" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Goetz 2020:32893963}" "" "c.5461-10T>C, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000773321" "0" "70" "1" "94490567" "94490567" "subst" "5.68528E-5" "01695" "ABCA4_000026" "g.94490567G>A" "4, 121406, 0, 0.00003295" "{PMID:Goetz 2020:32893963}" "" "c.4577C>T, p.Thr1526Met Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94025011G>A" "" "likely pathogenic (recessive)" ""
"0000773322" "0" "70" "1" "94506892" "94506892" "subst" "0" "01695" "ABCA4_001501" "g.94506892A>G" "" "{PMID:Goetz 2020:32893963}" "" "c.3395T>C, p.Ile1132Thr Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94041336A>G" "" "likely pathogenic (recessive)" ""
"0000773323" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "6, 119038, 0, 0.0000504" "{PMID:Goetz 2020:32893963}" "" "c.1804C>T, p.Arg602Trp Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94062710G>A" "" "pathogenic (recessive)" ""
"0000773324" "3" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Goetz 2020:32893963}" "" "c.5882G>A, p.Gly1961Glu Homozygous" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000773325" "3" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Goetz 2020:32893963}" "" "c.5882G>A, p.Gly1961Glu Homozygous" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000773326" "0" "50" "1" "94502756" "94502756" "subst" "0.000422575" "01695" "ABCA4_000032" "g.94502756G>A" "37, 121234, 1, 0.0003052" "{PMID:Goetz 2020:32893963}" "" "c.3758C>T, p.Thr1253Met Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94037200G>A" "" "VUS" ""
"0000773327" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Goetz 2020:32893963}" "" "c.5882G>A, p.Gly1961Glu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000773328" "0" "90" "1" "94544185" "94544185" "subst" "8.12137E-6" "01695" "ABCA4_000177" "g.94544185C>T" "1, 121412, 0, 0.000008236" "{PMID:Goetz 2020:32893963}" "" "c.1317G>A, p.Trp439Stop Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94078629C>T" "" "pathogenic (recessive)" ""
"0000773329" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "24, 119274, 0, 0.0002012" "{PMID:Goetz 2020:32893963}" "" "c.4139C>T, p.Pro1380Leu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000773330" "0" "90" "1" "94495009" "94495009" "dup" "0" "01695" "ABCA4_000087" "g.94495009dup" "" "{PMID:Goetz 2020:32893963}" "" "c.4537dupC, p.Gln1513ProfsX42 Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94029453dup" "" "pathogenic (recessive)" ""
"0000773331" "0" "50" "1" "94520708" "94520708" "subst" "0.00102774" "01695" "ABCA4_000074" "g.94520708A>G" "162, 121382, 1, 0.001335" "{PMID:Goetz 2020:32893963}" "" "c.2546T>C, p.Val849la Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94055152A>G" "" "VUS" ""
"0000773332" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "42, 120772, 0, 0.0003478" "{PMID:Goetz 2020:32893963}" "" "c.5714+5G>A, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000773333" "0" "90" "1" "94526212" "94526212" "subst" "1.22012E-5" "01695" "ABCA4_000075" "g.94526212G>A" "3, 120836, 0, 0.00002483" "{PMID:Goetz 2020:32893963}" "" "c.2041C>T, p.Arg681Stop Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94060656G>A" "" "pathogenic (recessive)" ""
"0000773334" "0" "70" "1" "94506902" "94506902" "subst" "1.21834E-5" "01695" "ABCA4_000623" "g.94506902G>A" "2, 121396, 0, 0.00001648" "{PMID:Goetz 2020:32893963}" "" "c.3385C>T, p.Arg1129Cys Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94041346G>A" "" "likely pathogenic (recessive)" ""
"0000773335" "0" "70" "1" "94543271" "94543271" "subst" "0" "01695" "ABCA4_001507" "g.94543271A>G" "" "{PMID:Goetz 2020:32893963}" "" "c.1529T>C, p.Leu510Pro Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94077715A>G" "" "likely pathogenic (recessive)" ""
"0000773336" "0" "70" "1" "94520869" "94520869" "subst" "0" "01695" "ABCA4_000729" "g.94520869G>C" "" "{PMID:Goetz 2020:32893963}" "" "c.2385C>G, p.Ser795Arg Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94055313G>C" "" "likely pathogenic (recessive)" ""
"0000773337" "0" "90" "1" "94576993" "94576993" "subst" "2.03513E-5" "01695" "ABCA4_000069" "g.94576993C>T" "4, 119416, 0, 0.0000335" "{PMID:Goetz 2020:32893963}" "" "c.IVS3+1G>A, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94111437C>T" "" "pathogenic (recessive)" ""
"0000773338" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Goetz 2020:32893963}" "" "c.5882G>A, p.Gly1961Glu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000773339" "3" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "6, 119038, 0, 0.0000504" "{PMID:Goetz 2020:32893963}" "" "c.1804C>T, p.Arg602Trp Homozygous" "" "Unknown" "" "" "0" "" "" "g.94062710G>A" "" "pathogenic (recessive)" ""
"0000773340" "0" "70" "1" "94577135" "94577135" "subst" "2.43718E-5" "01695" "ABCA4_000240" "g.94577135C>T" "2, 121210, 0, 0.0000165" "{PMID:Goetz 2020:32893963}" "" "c.161G>A, p.Cys54Tyr Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94111579C>T" "" "likely pathogenic (recessive)" ""
"0000773341" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "173, 121304, 0, 0.001426" "{PMID:Goetz 2020:32893963}" "" "c.3113C>T, p.Ala1038Val Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000773342" "0" "70" "1" "94568582" "94568582" "subst" "2.03034E-5" "01695" "ABCA4_000203" "g.94568582G>A" "" "{PMID:Goetz 2020:32893963}" "" "c.559C>T, p.(Arg187Cys) Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94103026G>A" "" "likely pathogenic (recessive)" ""
"0000773343" "0" "90" "1" "94467537" "94467537" "subst" "0" "01695" "ABCA4_001610" "g.94467537C>T" "" "{PMID:Goetz 2020:32893963}" "" "c.6159G>A, p.Trp2053Stop Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94001981C>T" "" "pathogenic (recessive)" ""
"0000773344" "0" "70" "1" "94496548" "94496548" "subst" "2.43787E-5" "01695" "ABCA4_000088" "g.94496548G>A" "2, 120802, 0, 0.00001656" "{PMID:Goetz 2020:32893963}" "" "c.4253+4C>T, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94030992G>A" "" "likely pathogenic (recessive)" ""
"0000773345" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "24, 119274, 0, 0.0002012" "{PMID:Goetz 2020:32893963}" "" "c.4139C>T, p.Pro1380Leu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000773346" "0" "50" "1" "94528774" "94528774" "subst" "0.00264827" "01695" "ABCA4_000298" "g.94528774C>T" "320, 121410, 2, 0.002636" "{PMID:Goetz 2020:32893963}" "" "c.1654G>A, p.Val552Ile Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94063218C>T" "" "VUS" ""
"0000773347" "0" "70" "1" "94528780" "94528780" "subst" "4.06171E-6" "01695" "ABCA4_000299" "g.94528780C>T" "1, 121410, 0, 0.000008237" "{PMID:Goetz 2020:32893963}" "" "c.1648G>A, p.Gly550Arg Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94063224C>T" "" "likely pathogenic (recessive)" ""
"0000773348" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Goetz 2020:32893963}" "" "c.2588G>C, p.Gly863Ala Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000773349" "0" "50" "1" "94487404" "94487404" "subst" "0.00244055" "01695" "ABCA4_000497" "g.94487404C>T" "317, 121146, 0, 0.002617" "{PMID:Goetz 2020:32893963}" "" "c.4771G>A, p.Gly1591Arg Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94021848C>T" "" "VUS" ""
"0000773350" "0" "10" "1" "94505604" "94505604" "subst" "0.00645586" "01695" "ABCA4_000092" "g.94505604A>C" "879, 64452, 44, 0.01364" "{PMID:Goetz 2020:32893963}" "" "c.3602T>G, p.Leu1201Arg Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94040048A>C" "" "benign" ""
"0000773351" "0" "70" "1" "94467467" "94467467" "subst" "4.06164E-6" "01695" "ABCA4_000780" "g.94467467G>A" "" "{PMID:Goetz 2020:32893963}" "" "c.6229C>T, p.Arg2077Trp Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94001911G>A" "" "likely pathogenic (recessive)" ""
"0000773352" "0" "50" "1" "94473864" "94473864" "subst" "0.173865" "01695" "ABCA4_000885" "g.94473864C>T" "" "{PMID:Goetz 2020:32893963}" "" "c.IVS42-11G>A, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94008308C>T" "" "VUS" ""
"0000773353" "0" "70" "1" "94466422" "94466422" "subst" "2.43651E-5" "01695" "ABCA4_000817" "g.94466422C>T" "3, 121398, 0, 0.00002471" "{PMID:Goetz 2020:32893963}" "" "c.6449G>A, p.Cys2150Tyr Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94000866C>T" "" "likely pathogenic (recessive)" ""
"0000773354" "0" "90" "1" "94577083" "94577083" "dup" "0" "01695" "ABCA4_000993" "g.94577083dup" "" "{PMID:Goetz 2020:32893963}" "" "c.216dupG, p.Ile73AspfsX26 Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94111527dup" "" "pathogenic (recessive)" ""
"0000773355" "0" "90" "1" "94526154" "94526154" "subst" "4.06441E-6" "01695" "ABCA4_000752" "g.94526154C>T" "" "{PMID:Goetz 2020:32893963}" "" "c.2099G>A, p.Trp700Stop Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94060598C>T" "" "pathogenic (recessive)" ""
"0000773356" "0" "70" "1" "94577082" "94577082" "subst" "2.84315E-5" "01695" "ABCA4_000232" "g.94577082C>T" "3, 121252, 0, 0.00002474" "{PMID:Goetz 2020:32893963}" "" "c.214G>A, p.Gly72Arg Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94111526C>T" "" "likely pathogenic (recessive)" ""
"0000773357" "0" "50" "1" "94485257" "94485257" "subst" "0.00017945" "01695" "ABCA4_000100" "g.94485257C>T" "26, 109132, 0, 0.0002382" "{PMID:Goetz 2020:32893963}" "" "c.5077G>A, p.Val1693Ile Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94019701C>T" "" "VUS" ""
"0000773358" "0" "50" "1" "94528142" "94528142" "subst" "0.00153303" "01695" "ABCA4_000125" "g.94528142A>C" "163, 121098, 1, 0.001346" "{PMID:Goetz 2020:32893963}" "" "c.1928T>G, p.Val643Gly Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94062586A>C" "" "VUS" ""
"0000773359" "0" "90" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "21, 121302, 0, 0.0001731" "{PMID:Goetz 2020:32893963}" "" "c.2894A>G, p.Asn965Ser Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94046943T>C" "" "pathogenic (recessive)" ""
"0000773360" "0" "70" "1" "94463460" "94463460" "subst" "6.90507E-5" "01695" "ABCA4_000799" "g.94463460A>G" "8, 121286, 0, 0.00006596" "{PMID:Goetz 2020:32893963}" "" "c.6686T>C, p.Leu2229Pro Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.93997904A>G" "" "likely pathogenic (recessive)" ""
"0000773361" "0" "70" "1" "94543271" "94543271" "subst" "0" "01695" "ABCA4_001507" "g.94543271A>G" "" "{PMID:Goetz 2020:32893963}" "" "c.1529T>C, p.Leu510Pro Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94077715A>G" "" "likely pathogenic (recessive)" ""
"0000773362" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Goetz 2020:32893963}" "" "c.2588G>C, p.Gly863Ala Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000773363" "0" "50" "1" "94574258" "94574258" "subst" "0.00115728" "01695" "ABCA4_001132" "g.94574258T>A" "131, 121372, 0, 0.001079" "{PMID:Goetz 2020:32893963}" "" "c.317A>T, p.Tyr106Phe Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94108702T>A" "" "VUS" ""
"0000773364" "0" "50" "1" "94487404" "94487404" "subst" "0.00244055" "01695" "ABCA4_000497" "g.94487404C>T" "317, 121146, 0, 0.002617" "{PMID:Goetz 2020:32893963}" "" "c.4771G>A, p.Gly1591Arg Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94021848C>T" "" "VUS" ""
"0000773365" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "15, 121412, 0, 0.0001235" "{PMID:Goetz 2020:32893963}" "" "c.1622T>C, p.Leu541Pro Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000773366" "0" "50" "1" "94502888" "94502888" "subst" "0.00310941" "01695" "ABCA4_000603" "g.94502888A>G" "325, 120738, 4, 0.002692" "{PMID:Goetz 2020:32893963}" "" "c.3626T>C, p.(Met1209Thr) Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94037332A>G" "" "VUS" ""
"0000773367" "0" "70" "1" "94586550" "94586550" "subst" "1.21864E-5" "01695" "ABCA4_000037" "g.94586550G>A" "3, 121392, 0, 0.00002471" "{PMID:Goetz 2020:32893963}" "" "c.52C>T, p.Arg18Trp Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94120994G>A" "" "likely pathogenic (recessive)" ""
"0000773368" "0" "90" "1" "94526092" "94526092" "subst" "0" "01695" "ABCA4_000749" "g.94526092C>A" "" "{PMID:Goetz 2020:32893963}" "" "c.2160+1G>T, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94060536C>A" "" "pathogenic (recessive)" ""
"0000773369" "0" "90" "1" "94526092" "94526092" "subst" "0" "01695" "ABCA4_000749" "g.94526092C>A" "" "{PMID:Goetz 2020:32893963}" "" "c.2160+1G>T, Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94060536C>A" "" "pathogenic (recessive)" ""
"0000773370" "0" "70" "1" "94466618" "94466618" "subst" "0" "01695" "ABCA4_001415" "g.94466618A>G" "" "{PMID:Goetz 2020:32893963}" "" "c.6326T>C, p.Leu2109Pro Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94001062A>G" "" "likely pathogenic (recessive)" ""
"0000773371" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "6, 119038, 0, 0.0000504" "{PMID:Goetz 2020:32893963}" "" "c.1804C>T, p.Arg602Trp Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94062710G>A" "" "pathogenic (recessive)" ""
"0000773372" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Goetz 2020:32893963}" "" "c.2588G>C, p.Gly863Ala Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000773373" "0" "70" "1" "94496547" "94496547" "subst" "4.06345E-6" "01695" "ABCA4_000559" "g.94496547C>A" "1, 120798, 0, 0.000008278" "{PMID:Goetz 2020:32893963}" "" "c.4253+5G>T, Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94030991C>A" "" "likely pathogenic (recessive)" ""
"0000773374" "0" "70" "1" "94490567" "94490567" "subst" "5.68528E-5" "01695" "ABCA4_000026" "g.94490567G>A" "4, 121406, 0, 0.00003295" "{PMID:Goetz 2020:32893963}" "" "c.4577C>T, p.Thr1526Met Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94025011G>A" "" "likely pathogenic (recessive)" ""
"0000773375" "0" "70" "1" "94490567" "94490567" "subst" "5.68528E-5" "01695" "ABCA4_000026" "g.94490567G>A" "4, 121406, 0, 0.00003295" "{PMID:Goetz 2020:32893963}" "" "c.4577C>T, p.Thr1526Met Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94025011G>A" "" "likely pathogenic (recessive)" ""
"0000773376" "0" "50" "1" "94517225" "94517225" "subst" "8.12249E-6" "01695" "ABCA4_000703" "g.94517225A>G" "1, 120714, 0, 0.000008284" "{PMID:Goetz 2020:32893963}" "" "c.2617T>C, p.Phe873Leu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94051669A>G" "" "VUS" ""
"0000773377" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "42, 120772, 0, 0.0003478" "{PMID:Goetz 2020:32893963}" "" "c.5714+5G>A, Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000773378" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "26, 121404, 0, 0.0002142" "{PMID:Goetz 2020:32893963}" "" "c.6079C>T, p.Leu2027Phe Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic (recessive)" ""
"0000773379" "0" "70" "1" "94577093" "94577093" "subst" "0" "01695" "ABCA4_000178" "g.94577093G>C" "" "{PMID:Goetz 2020:32893963}" "" "c.203C>G, p.Pro68Leu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94111537G>C" "" "likely pathogenic (recessive)" ""
"0000773380" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Goetz 2020:32893963}" "" "c.2588G>C, p.Gly863Ala Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000773381" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Goetz 2020:32893963}" "" "c.2588G>C, p.Gly863Ala Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000773382" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Goetz 2020:32893963}" "" "c.5461-10T>C, Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000773383" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Goetz 2020:32893963}" "" "c.5461-10T>C, Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000773384" "0" "70" "1" "94466422" "94466422" "subst" "2.43651E-5" "01695" "ABCA4_000817" "g.94466422C>T" "3, 121398, 0, 0.00002471" "{PMID:Goetz 2020:32893963}" "" "c.6449G>A, p.Cys2150Tyr Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94000866C>T" "" "likely pathogenic (recessive)" ""
"0000773385" "0" "70" "1" "94522239" "94522239" "subst" "2.03305E-5" "01695" "ABCA4_000736" "g.94522239A>T" "1, 119332, 0, 0.00000838" "{PMID:Goetz 2020:32893963}" "" "c.2300T>A, p.Val767Asp Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94056683A>T" "" "likely pathogenic (recessive)" ""
"0000773386" "0" "70" "1" "94490534" "94490534" "subst" "0.000125895" "01695" "ABCA4_000520" "g.94490534G>A" "14, 121396, 0, 0.0001153" "{PMID:Goetz 2020:32893963}" "" "c.4610C>T, p.Thr1537Met Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94024978G>A" "" "likely pathogenic (recessive)" ""
"0000773387" "0" "90" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "14, 120056, 0, 0.0001166" "{PMID:Goetz 2020:32893963}" "" "c.634C>T, p.Arg212Cys Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94098928G>A" "" "pathogenic (recessive)" ""
"0000773388" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "26, 121404, 0, 0.0002142" "{PMID:Goetz 2020:32893963}" "" "c.6079C>T, p.Leu2027Phe Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic (recessive)" ""
"0000773389" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Goetz 2020:32893963}" "" "c.2588G>C, p.Gly863Ala Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000773390" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "15, 121412, 0, 0.0001235" "{PMID:Goetz 2020:32893963}" "" "c.1622T>C, p.Leu541Pro Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000773391" "0" "70" "1" "94512478" "94512478" "subst" "3.65871E-5" "01695" "ABCA4_000678" "g.94512478G>T" "7, 121308, 0, 0.0000577" "{PMID:Goetz 2020:32893963}" "" "c.2915C>A, p.Thr972Asn Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94046922G>T" "" "likely pathogenic (recessive)" ""
"0000773392" "3" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Goetz 2020:32893963}" "" "c.5882G>A, p.Gly1961Glu Homozygous" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000773393" "3" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "6, 119038, 0, 0.0000504" "{PMID:Goetz 2020:32893963}" "" "c.1804C>T, p.Arg602Trp Homozygous" "" "Unknown" "" "" "0" "" "" "g.94062710G>A" "" "pathogenic (recessive)" ""
"0000773394" "0" "50" "1" "94564441" "94564441" "subst" "0.000203171" "01695" "ABCA4_001513" "g.94564441C>A" "" "{PMID:Goetz 2020:32893963}" "" "c.677G>T, p.Arg226Leu Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94098885C>A" "" "VUS" ""
"0000773395" "0" "70" "1" "94577010" "94577010" "subst" "4.06679E-6" "01695" "ABCA4_000225" "g.94577010T>G" "" "{PMID:Goetz 2020:32893963}" "" "c.286A>C, p.Asn96His Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94111454T>G" "" "likely pathogenic (recessive)" ""
"0000773396" "0" "90" "1" "94528311" "94528311" "subst" "0" "01695" "ABCA4_001138" "g.94528311T>C" "" "{PMID:Goetz 2020:32893963}" "" "c.1761-2A>G, Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94062755T>C" "" "pathogenic (recessive)" ""
"0000773397" "0" "70" "1" "94509045" "94509045" "subst" "0.00234728" "01695" "ABCA4_001958" "g.94509045A>T" "" "{PMID:Goetz 2020:32893963}" "" "c.3051-14T>A, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94043489A>T" "" "likely pathogenic (recessive)" ""
"0000773398" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Goetz 2020:32893963}" "" "c.5461-10T>C, heterozygous" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000773399" "0" "70" "1" "94512478" "94512478" "subst" "3.65871E-5" "01695" "ABCA4_000678" "g.94512478G>T" "7, 121308, 0, 0.0000577" "{PMID:Goetz 2020:32893963}" "" "c.2915C>A, p.Thr972Asn Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94046922G>T" "" "likely pathogenic (recessive)" ""
"0000773400" "0" "30" "1" "94564500" "94564500" "subst" "0.000643469" "01695" "ABCA4_002189" "g.94564500G>A" "" "{PMID:Goetz 2020:32893963}" "" "c.618C>T, p.Ser206= Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94098944G>A" "" "likely benign" ""
"0000773401" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "24, 119274, 0, 0.0002012" "{PMID:Goetz 2020:32893963}" "" "c.4139C>T, p.Pro1380Leu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000773402" "3" "70" "1" "94509006" "94509006" "subst" "3.65717E-5" "01695" "ABCA4_001538" "g.94509006A>G" "" "{PMID:Goetz 2020:32893963}" "" "c.3076T>C, p.Phe1026Leu Homozygous" "" "Unknown" "" "" "0" "" "" "g.94043450A>G" "" "likely pathogenic (recessive)" ""
"0000773403" "0" "70" "1" "94484001" "94484001" "subst" "0" "01695" "ABCA4_000016" "g.94484001C>T" "" "{PMID:Goetz 2020:32893963}" "" "c.5196+1137G>A, Intronic Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94018445C>T" "" "likely pathogenic (recessive)" ""
"0000773404" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Goetz 2020:32893963}" "" "c.2588G>C, p.Gly863Ala Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000773405" "0" "70" "1" "94467467" "94467467" "subst" "4.06164E-6" "01695" "ABCA4_000780" "g.94467467G>A" "" "{PMID:Goetz 2020:32893963}" "" "c.6229C>T, p.Arg2077Trp heterozygous" "" "Unknown" "" "" "0" "" "" "g.94001911G>A" "" "likely pathogenic (recessive)" ""
"0000773406" "0" "70" "1" "94495083" "94495083" "subst" "0.000124542" "01695" "ABCA4_000542" "g.94495083G>A" "11, 77176, 0, 0.0001425" "{PMID:Goetz 2020:32893963}" "" "c.4457C>T, p.Pro1486Leu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94029527G>A" "" "likely pathogenic (recessive)" ""
"0000773407" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Goetz 2020:32893963}" "" "c.5882G>A, p.Gly1961Glu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000773408" "0" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "12, 60116, 0, 0.0001996" "{PMID:Goetz 2020:32893963}" "" "c.4469G>A, p.Cys1490Tyr Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94029515C>T" "" "likely pathogenic (recessive)" ""
"0000773409" "0" "90" "1" "94574256" "94574256" "subst" "2.8425E-5" "01695" "ABCA4_000040" "g.94574256G>A" "7, 121378, 0, 0.00005767" "{PMID:Goetz 2020:32893963}" "" "c.319C>T, p.Arg107* Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94108700G>A" "" "pathogenic (recessive)" ""
"0000773410" "0" "70" "1" "94481325" "94481325" "subst" "0" "01695" "ABCA4_001707" "g.94481325G>C" "" "{PMID:Goetz 2020:32893963}" "" "c.5282C>G, p.Pro1761Arg Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94015769G>C" "" "likely pathogenic (recessive)" ""
"0000773411" "0" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "12, 60116, 0, 0.0001996" "{PMID:Goetz 2020:32893963}" "" "c.4469G>A, p.Cys1490Tyr Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94029515C>T" "" "likely pathogenic (recessive)" ""
"0000773412" "3" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "5406, 121330, 156, 0.04456" "{PMID:Goetz 2020:32893963}" "" "c.5603A>T, p.Asp.Asn1868Ile Homozygous" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000773413" "0" "90" "1" "94471056" "94471056" "subst" "2.84398E-5" "01695" "ABCA4_000050" "g.94471056G>A" "3, 121402, 0, 0.00002471" "{PMID:Goetz 2020:32893963}" "" "c.6088C>T, p.Arg2030* Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94005500G>A" "" "pathogenic (recessive)" ""
"0000773414" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "15, 121412, 0, 0.0001235" "{PMID:Goetz 2020:32893963}" "" "c.1622T>C, p.Leu541Pro Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000773415" "0" "50" "1" "94476377" "94476377" "subst" "0.00160473" "01695" "ABCA4_000411" "g.94476377C>T" "216, 121058, 1, 0.001784" "{PMID:Goetz 2020:32893963}" "" "c.5693G>A, p.Arg1898His Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94010821C>T" "" "VUS" ""
"0000773416" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Goetz 2020:32893963}" "" "c.2588G>C, p.Gly863Ala Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000773417" "0" "50" "1" "94496039" "94496039" "subst" "0.00157963" "01695" "ABCA4_000552" "g.94496039C>T" "173, 121380, 1, 0.001425" "{PMID:Goetz 2020:32893963}" "" "c.4297G>A, p.Val1433Ile heterozygous" "" "Unknown" "" "" "0" "" "" "g.94030483C>T" "" "VUS" ""
"0000773418" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Goetz 2020:32893963}" "" "c.2588G>C, p.Gly863Ala Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000773419" "0" "90" "1" "94508435" "94508436" "dup" "0" "01695" "ABCA4_000998" "g.94508435_94508436dup" "" "{PMID:Goetz 2020:32893963}" "" "c.3210_3211dup" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94042879_94042880dup" "" "pathogenic (recessive)" ""
"0000773420" "0" "70" "1" "94577135" "94577135" "subst" "2.43718E-5" "01695" "ABCA4_000240" "g.94577135C>T" "2, 121210, 0, 0.0000165" "{PMID:Goetz 2020:32893963}" "" "c.161G>A, p.Cys54Tyr Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94111579C>T" "" "likely pathogenic (recessive)" ""
"0000773421" "0" "70" "1" "94458783" "94458783" "subst" "0.00174189" "01695" "ABCA4_000874" "g.94458783G>T" "" "{PMID:Goetz 2020:32893963}" "" "c.*10C>A, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.93993227G>T" "" "likely pathogenic (recessive)" ""
"0000773422" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Goetz 2020:32893963}" "" "c.5882G>A, p.Gly1961Glu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000773423" "0" "50" "1" "94576998" "94576998" "subst" "0" "01695" "ABCA4_000222" "g.94576998A>G" "" "{PMID:Goetz 2020:32893963}" "" "c.298T>C, p.Ser100Pro heterozygous" "" "Unknown" "" "" "0" "" "" "g.94111442A>G" "" "VUS" ""
"0000773424" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Goetz 2020:32893963}" "" "c.5461-10T>C, Intronic Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000773425" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "5406, 121330, 156, 0.04456" "{PMID:Goetz 2020:32893963}" "" "c.5603A>T, p.(Asn1868Ile) Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000773426" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "173, 121304, 0, 0.001426" "{PMID:Goetz 2020:32893963}" "" "c.3113C>T, p.Ala1038Val Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000773427" "0" "70" "1" "94577135" "94577135" "subst" "2.43718E-5" "01695" "ABCA4_000240" "g.94577135C>T" "2, 121210, 0, 0.0000165" "{PMID:Goetz 2020:32893963}" "" "c.161G>A, p.Cys54Tyr Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94111579C>T" "" "likely pathogenic (recessive)" ""
"0000773428" "0" "70" "1" "94506952" "94506952" "subst" "0" "01695" "ABCA4_000628" "g.94506952G>T" "" "{PMID:Goetz 2020:32893963}" "" "c.3335C>A, p.Thr1112Asn Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94041396G>T" "" "likely pathogenic (recessive)" ""
"0000773429" "0" "30" "1" "94496602" "94496602" "subst" "0.0234538" "01695" "ABCA4_000913" "g.94496602G>T" "2957, 120728, 46, 0.02449" "{PMID:Goetz 2020:32893963}" "" "c.4203C>A, p.(Pro1401=) Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94031046G>T" "" "likely benign" ""
"0000773430" "0" "90" "1" "94509026" "94509026" "subst" "4.06497E-5" "01695" "ABCA4_000660" "g.94509026G>A" "5, 120988, 0, 0.00004133" "{PMID:Goetz 2020:32893963}" "" "c.3056C>T, p.(Thr1019Met) Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94043470G>A" "" "pathogenic (recessive)" ""
"0000773431" "0" "90" "1" "94495009" "94495009" "dup" "0" "01695" "ABCA4_000087" "g.94495009dup" "" "{PMID:Goetz 2020:32893963}" "" "c.4537dup" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94029453dup" "" "pathogenic (recessive)" ""
"0000773432" "0" "70" "1" "94522287" "94522287" "subst" "0" "01695" "ABCA4_002046" "g.94522287A>G" "" "{PMID:Goetz 2020:32893963}" "" "c.2252T>C, p.Leu751Pro Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94056731A>G" "" "likely pathogenic (recessive)" ""
"0000773433" "0" "70" "1" "94586550" "94586550" "subst" "1.21864E-5" "01695" "ABCA4_000037" "g.94586550G>A" "3, 121392, 0, 0.00002471" "{PMID:Goetz 2020:32893963}" "" "c.52C>T, p.Arg18Trp Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94120994G>A" "" "likely pathogenic (recessive)" ""
"0000773434" "0" "70" "1" "94564358" "94564358" "subst" "0" "01695" "ABCA4_002175" "g.94564358A>G" "" "{PMID:Goetz 2020:32893963}" "" "c.760T>C, p.Phe254Leu heterozygous" "" "Unknown" "" "" "0" "" "" "g.94098802A>G" "" "likely pathogenic (recessive)" ""
"0000773435" "0" "50" "1" "94495074" "94495074" "subst" "2.53301E-5" "01695" "ABCA4_001810" "g.94495074C>T" "" "{PMID:Goetz 2020:32893963}" "" "c.4466G>A, p.Arg1489Lys Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94029518C>T" "" "VUS" ""
"0000773436" "0" "70" "1" "94466474" "94466474" "subst" "0" "01695" "ABCA4_001202" "g.94466474A>G" "" "{PMID:Goetz 2020:32893963}" "" "c.6397T>C, p.Cys2133Arg Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94000918A>G" "" "likely pathogenic (recessive)" ""
"0000773437" "0" "50" "1" "94480146" "94480146" "subst" "2.84273E-5" "01695" "ABCA4_000122" "g.94480146T>C" "2, 121410, 0, 0.00001647" "{PMID:Goetz 2020:32893963}" "" "c.5413A>G, p.Asn1805Asp heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94014590T>C" "" "VUS" ""
"0000773438" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Goetz 2020:32893963}" "" "c.2588G>C, p.Gly863Ala Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000773439" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "24, 119274, 0, 0.0002012" "{PMID:Goetz 2020:32893963}" "" "c.4139C>T, p.Pro1380Leu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000773440" "0" "90" "1" "94526265" "94526265" "subst" "0" "01695" "ABCA4_000143" "g.94526265C>T" "" "{PMID:Goetz 2020:32893963}" "" "c.1988G>A, p.Trp663Ter Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94060709C>T" "" "pathogenic (recessive)" ""
"0000773441" "0" "90" "1" "94520690" "94520690" "subst" "2.03102E-5" "01695" "ABCA4_000149" "g.94520690C>T" "4, 121342, 0, 0.00003296" "{PMID:Goetz 2020:32893963}" "" "c.2564G>A, p.Trp855stop Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94055134C>T" "" "pathogenic (recessive)" ""
"0000773442" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "5406, 121330, 156, 0.04456" "{PMID:Goetz 2020:32893963}" "" "c.5603A>T, p.(Asn1868Ile) Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000773443" "0" "90" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "14, 120056, 0, 0.0001166" "{PMID:Goetz 2020:32893963}" "" "c.634C>T, p.Arg212Cys Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94098928G>A" "" "pathogenic (recessive)" ""
"0000773444" "0" "70" "1" "94528819" "94528819" "subst" "2.03128E-5" "01695" "ABCA4_000078" "g.94528819G>A" "2, 121412, 0, 0.00001647" "{PMID:Goetz 2020:32893963}" "" "c.1609C>T, p.Arg537Cys Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94063263G>A" "" "likely pathogenic (recessive)" ""
"0000773445" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "14, 121282, 0, 0.0001154" "{PMID:Goetz 2020:32893963}" "" "c.3322C>T, p.Arg1108Cys Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000773446" "0" "30" "1" "94496602" "94496602" "subst" "0.0234538" "01695" "ABCA4_000913" "g.94496602G>T" "2957, 120728, 46, 0.02449" "{PMID:Goetz 2020:32893963}" "" "c.4203C>A, p.(Pro1401=) Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94031046G>T" "" "likely benign" ""
"0000773447" "0" "70" "1" "94486896" "94486896" "subst" "3.65562E-5" "01695" "ABCA4_000085" "g.94486896G>A" "1, 121394, 0, 0.000008238" "{PMID:Goetz 2020:32893963}" "" "c.4918C>T, p.Arg1640Trp Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94021340G>A" "" "likely pathogenic (recessive)" ""
"0000773448" "3" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "5406, 121330, 156, 0.04456" "{PMID:Goetz 2020:32893963}" "" "c.5603A>T, p.Asp.Asn1868Ile Homozygous" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000773449" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "14, 121282, 0, 0.0001154" "{PMID:Goetz 2020:32893963}" "" "c.3322C>T, p.Arg1108Cys Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000773450" "0" "70" "1" "94544249" "94544249" "subst" "8.12196E-6" "01695" "ABCA4_000323" "g.94544249A>G" "" "{PMID:Goetz 2020:32893963}" "" "c.1253T>C, p.Phe418Ser Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94078693A>G" "" "likely pathogenic (recessive)" ""
"0000773451" "0" "70" "1" "94471055" "94471055" "subst" "0.00035346" "01695" "ABCA4_000029" "g.94471055C>T" "47, 121404, 1, 0.0003871" "{PMID:Goetz 2020:32893963}" "" "c.6089G>A, p.Arg2030Gln Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94005499C>T" "" "likely pathogenic (recessive)" ""
"0000773452" "0" "90" "1" "94510248" "94510248" "subst" "0.000544123" "01695" "ABCA4_000107" "g.94510248C>G" "87, 121410, 0, 0.0007166" "{PMID:Goetz 2020:32893963}" "" "c.2971G>C, p.Gly991Arg Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94044692C>G" "" "pathogenic (recessive)" ""
"0000773453" "0" "50" "1" "94483979" "94483979" "subst" "0" "01695" "ABCA4_000018" "g.94483979C>T" "" "{PMID:Goetz 2020:32893963}" "" "c.5196+1159G>A, Intronic Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94018423C>T" "" "VUS" ""
"0000773454" "0" "90" "1" "94506959" "94506959" "subst" "8.12321E-6" "01695" "ABCA4_001078" "g.94506959C>T" "" "{PMID:Goetz 2020:32893963}" "" "c.IVS22-1G>A, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94041403C>T" "" "pathogenic (recessive)" ""
"0000773455" "3" "90" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "227, 121250, 3, 0.001872" "{PMID:Goetz 2020:32893963}" "" "c.6320G>A, p.Arg2107His Homozygous" "" "Unknown" "" "" "0" "" "" "g.94001068C>T" "" "pathogenic (recessive)" ""
"0000773456" "0" "90" "1" "94473790" "94473790" "subst" "0" "01695" "ABCA4_000399" "g.94473790C>T" "" "{PMID:Goetz 2020:32893963}" "" "c.5898+1G>A, Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008234C>T" "" "pathogenic (recessive)" ""
"0000773457" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "26, 121404, 0, 0.0002142" "{PMID:Goetz 2020:32893963}" "" "c.6079C>T, p.Leu2027Phe Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic (recessive)" ""
"0000773458" "0" "50" "1" "94526230" "94526230" "subst" "7.32136E-5" "01695" "ABCA4_000760" "g.94526230C>T" "6, 120152, 0, 0.00004994" "{PMID:Goetz 2020:32893963}" "" "c.2023G>A, p.Val675Ile Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94060674C>T" "" "VUS" ""
"0000773459" "0" "90" "1" "94481293" "94481293" "subst" "4.07448E-6" "01695" "ABCA4_000057" "g.94481293A>C" "" "{PMID:Goetz 2020:32893963}" "" "c.IVS37+2T>G, Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94015737A>C" "" "pathogenic (recessive)" ""
"0000773460" "0" "90" "1" "94508386" "94508386" "subst" "1.62443E-5" "01695" "ABCA4_000642" "g.94508386C>T" "4, 121376, 0, 0.00003296" "{PMID:Goetz 2020:32893963}" "" "c.3259G>A, p.Glu1087Lys Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94042830C>T" "" "pathogenic (recessive)" ""
"0000773461" "0" "70" "1" "94526295" "94526295" "subst" "3.69731E-5" "01695" "ABCA4_000114" "g.94526295C>T" "1, 98698, 0, 0.00001013" "{PMID:Goetz 2020:32893963}" "" "c.1958G>A, p.Arg653His Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94060739C>T" "" "likely pathogenic (recessive)" ""
"0000773462" "0" "70" "1" "94471032" "94471032" "subst" "1.62553E-5" "01695" "ABCA4_000792" "g.94471032G>A" "3, 121400, 0, 0.00002471" "{PMID:Goetz 2020:32893963}" "" "c.6112C>T, p.p.Arg2038Trp Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94005476G>A" "" "likely pathogenic (recessive)" ""
"0000773463" "0" "70" "1" "94471032" "94471032" "subst" "1.62553E-5" "01695" "ABCA4_000792" "g.94471032G>A" "3, 121400, 0, 0.00002471" "{PMID:Goetz 2020:32893963}" "" "c.6112C>T, p.p.Arg2038Trp Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94005476G>A" "" "likely pathogenic (recessive)" ""
"0000773464" "0" "70" "1" "94578604" "94578604" "subst" "1.21987E-5" "01695" "ABCA4_002243" "g.94578604G>A" "" "{PMID:Goetz 2020:32893963}" "" "c.85C>T, p.Leu29Phe Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94113048G>A" "" "likely pathogenic (recessive)" ""
"0000773465" "0" "50" "1" "94522185" "94522185" "subst" "8.14027E-6" "01695" "ABCA4_002035" "g.94522185C>A" "" "{PMID:Goetz 2020:32893963}" "" "c.2354G>T, p.Arg785Leu Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94056629C>A" "" "VUS" ""
"0000773466" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Goetz 2020:32893963}" "" "c.2588G>C, p.Gly863Ala Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000773467" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "13, 121216, 0, 0.0001072" "{PMID:Goetz 2020:32893963}" "" "c.768G>T, p.Val256Val Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000773468" "0" "70" "1" "94506898" "94506898" "subst" "0" "01695" "ABCA4_001904" "g.94506898A>G" "" "{PMID:Goetz 2020:32893963}" "" "c.3389T>C, p.Ile1130Thr Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94041342A>G" "" "likely pathogenic (recessive)" ""
"0000773469" "0" "70" "1" "94502318" "94502323" "del" "0" "01695" "ABCA4_000591" "g.94502318_94502323del" "" "{PMID:Goetz 2020:32893963}" "" "c.3840_3845del6, p.Asp1281_Ser1282del Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94036762_94036767del" "" "likely pathogenic (recessive)" ""
"0000773470" "0" "90" "1" "94520667" "94520667" "subst" "0" "01695" "ABCA4_002012" "g.94520667C>A" "" "{PMID:Goetz 2020:32893963}" "" "c.2587G>T, p.Gly863Stop Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94055111C>A" "" "pathogenic (recessive)" ""
"0000773471" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Goetz 2020:32893963}" "" "c.5882G>A, p.Gly1961Glu heterozygous" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000773472" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "5406, 121330, 156, 0.04456" "{PMID:Goetz 2020:32893963}" "" "c.5603A>T, p.Asn1868Ile Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000773473" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "42, 120772, 0, 0.0003478" "{PMID:Goetz 2020:32893963}" "" "c.IVS40+5G>A, Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000773474" "0" "70" "1" "94476893" "94476893" "subst" "0" "01695" "ABCA4_001059" "g.94476893G>A" "" "{PMID:Goetz 2020:32893963}" "" "c.5509C>T, p.Pro1837Ser Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94011337G>A" "" "likely pathogenic (recessive)" ""
"0000773475" "0" "90" "1" "94528132" "94528132" "subst" "4.06835E-6" "01695" "ABCA4_000773" "g.94528132C>T" "1, 120972, 0, 0.000008266" "{PMID:Goetz 2020:32893963}" "" "c.IVS13+1G>A, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94062576C>T" "" "pathogenic (recessive)" ""
"0000773476" "3" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "6, 119038, 0, 0.0000504" "{PMID:Goetz 2020:32893963}" "" "c.1804C>T, p.Arg602Trp Homozygous" "" "Unknown" "" "" "0" "" "" "g.94062710G>A" "" "pathogenic (recessive)" ""
"0000773477" "0" "30" "1" "94461754" "94461754" "subst" "0.0642229" "01695" "ABCA4_000951" "g.94461754A>G" "" "{PMID:Goetz 2020:32893963}" "" "c.6730-3T>C, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.93996198A>G" "" "likely benign" ""
"0000773478" "0" "50" "1" "94487404" "94487404" "subst" "0.00244055" "01695" "ABCA4_000497" "g.94487404C>T" "317, 121146, 0, 0.002617" "{PMID:Goetz 2020:32893963}" "" "c.4771G>A, p.Gly1591Arg Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94021848C>T" "" "VUS" ""
"0000773479" "0" "90" "1" "94495009" "94495009" "dup" "0" "01695" "ABCA4_000087" "g.94495009dup" "" "{PMID:Goetz 2020:32893963}" "" "c.4537dup" "" "Unknown" "" "" "0" "" "" "g.94029453dup" "" "pathogenic (recessive)" ""
"0000773480" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Goetz 2020:32893963}" "" "c.2588G>C, p.Gly863Ala Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000773481" "0" "70" "1" "94487251" "94487251" "subst" "2.85679E-5" "01695" "ABCA4_000490" "g.94487251G>T" "3, 113672, 0, 0.00002639" "{PMID:Goetz 2020:32893963}" "" "c.4793C>A, p.Ala1598Asp Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94021695G>T" "" "likely pathogenic (recessive)" ""
"0000773482" "0" "70" "1" "94526295" "94526295" "subst" "3.69731E-5" "01695" "ABCA4_000114" "g.94526295C>T" "1, 98698, 0, 0.00001013" "{PMID:Goetz 2020:32893963}" "" "c.1958G>A, p.Arg653His Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94060739C>T" "" "likely pathogenic (recessive)" ""
"0000773483" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Goetz 2020:32893963}" "" "c.5461-10T>C, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000773484" "0" "90" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "227, 121250, 3, 0.001872" "{PMID:Goetz 2020:32893963}" "" "c.6320G>A, p.Arg2107His Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94001068C>T" "" "pathogenic (recessive)" ""
"0000773485" "0" "90" "1" "94466426" "94466426" "subst" "1.62433E-5" "01695" "ABCA4_000124" "g.94466426G>A" "2, 121400, 0, 0.00001647" "{PMID:Goetz 2020:32893963}" "" "c.6445C>T, p.Arg2149Stop Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94000870G>A" "" "pathogenic (recessive)" ""
"0000773486" "0" "90" "1" "94568663" "94568663" "subst" "0" "01695" "ABCA4_000209" "g.94568663C>A" "" "{PMID:Goetz 2020:32893963}" "" "c.478G>T, p.Glu160Stop Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94103107C>A" "" "pathogenic (recessive)" ""
"0000773487" "0" "90" "1" "94510253" "94510253" "subst" "0.000247694" "01695" "ABCA4_000108" "g.94510253A>G" "36, 121412, 0, 0.0002965" "{PMID:Goetz 2020:32893963}" "" "c.2966T>C, p.Val989la Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94044697A>G" "" "pathogenic (recessive)" ""
"0000773488" "0" "90" "1" "94544895" "94544895" "subst" "1.62455E-5" "01695" "ABCA4_000329" "g.94544895G>A" "3, 121410, 0, 0.00002471" "{PMID:Goetz 2020:32893963}" "" "c.1222C>T, p.Arg408Ter Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94079339G>A" "" "pathogenic (recessive)" ""
"0000773489" "0" "90" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "227, 121250, 3, 0.001872" "{PMID:Goetz 2020:32893963}" "" "c.6320G>A, p.Arg2107His Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94001068C>T" "" "pathogenic (recessive)" ""
"0000773490" "3" "90" "1" "94568687" "94568687" "subst" "1.62641E-5" "01695" "ABCA4_000024" "g.94568687G>A" "1, 120844, 0, 0.000008275" "{PMID:Goetz 2020:32893963}" "" "c.454C>T, p.Arg152Stop Homozygous" "" "Unknown" "" "" "0" "" "" "g.94103131G>A" "" "pathogenic (recessive)" ""
"0000773491" "0" "90" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "227, 121250, 3, 0.001872" "{PMID:Goetz 2020:32893963}" "" "c.6320G>A, p.Arg2107His Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94001068C>T" "" "pathogenic (recessive)" ""
"0000773492" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Goetz 2020:32893963}" "" "c.5882G>A, p.Gly1961Glu Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000773493" "0" "50" "1" "94568675" "94568675" "subst" "0.00146249" "01695" "ABCA4_000210" "g.94568675T>C" "159, 120956, 0, 0.001315" "{PMID:Goetz 2020:32893963}" "" "c.466A>G, p.Ile156Val Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94103119T>C" "" "VUS" ""
"0000773494" "0" "50" "1" "94485148" "94485148" "subst" "4.27562E-6" "01695" "ABCA4_000099" "g.94485148A>G" "" "{PMID:Goetz 2020:32893963}" "" "c.5186T>C, p.Leu1729Pro Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94019592A>G" "" "VUS" ""
"0000773495" "0" "90" "1" "94574256" "94574256" "subst" "2.8425E-5" "01695" "ABCA4_000040" "g.94574256G>A" "7, 121378, 0, 0.00005767" "{PMID:Goetz 2020:32893963}" "" "c.319C>T, p.Arg107Stop Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94108700G>A" "" "pathogenic (recessive)" ""
"0000773496" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "26, 121404, 0, 0.0002142" "{PMID:Goetz 2020:32893963}" "" "c.6079C>T, p.Leu2027Phe Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic (recessive)" ""
"0000773497" "3" "90" "1" "94485275" "94485275" "del" "0" "01695" "ABCA4_001017" "g.94485275del" "" "{PMID:Goetz 2020:32893963}" "" "c.5059del, p.Ile1687Phefs*15 Homozygous" "" "Unknown" "" "" "0" "" "" "g.94019719del" "" "pathogenic (recessive)" ""
"0000773498" "0" "90" "1" "94528213" "94528222" "del" "0" "01695" "ABCA4_002075" "g.94528213_94528222del" "" "{PMID:Goetz 2020:32893963}" "" "c.1851_1860delGGGGATCACA, p.Ile619lafsX27 Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94062657_94062666del" "" "pathogenic (recessive)" ""
"0000773499" "3" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Goetz 2020:32893963}" "" "c.5882G>A, p.Gly1961Glu Homozygous" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000773500" "0" "70" "1" "94546261" "94546261" "subst" "0.000648567" "01695" "ABCA4_000353" "g.94546261G>A" "65, 120922, 1, 0.0005375" "{PMID:Goetz 2020:32893963}" "" "c.872C>T, p.Pro291Leu Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94080705G>A" "" "likely pathogenic (recessive)" ""
"0000773501" "0" "70" "1" "94495003" "94495003" "subst" "2.67971E-5" "01695" "ABCA4_001800" "g.94495003G>C" "" "{PMID:Goetz 2020:32893963}" "" "c.4537C>G, p.Gln1513Glu Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94029447G>C" "" "likely pathogenic (recessive)" ""
"0000773502" "0" "70" "1" "94520801" "94520801" "subst" "0.000211489" "01695" "ABCA4_000724" "g.94520801C>T" "24, 121324, 0, 0.0001978" "{PMID:Goetz 2020:32893963}" "" "c.2453G>A, p.Gly818Glu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94055245C>T" "" "likely pathogenic (recessive)" ""
"0000773503" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Goetz 2020:32893963}" "" "c.2588G>C, p.Gly863Ala Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000773504" "0" "30" "1" "94461754" "94461754" "subst" "0.0642229" "01695" "ABCA4_000951" "g.94461754A>G" "" "{PMID:Goetz 2020:32893963}" "" "c.6730-3T>C, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.93996198A>G" "" "likely benign" ""
"0000773505" "3" "90" "1" "94526258" "94526258" "subst" "4.07183E-6" "01695" "ABCA4_000762" "g.94526258G>T" "1, 117152, 0, 0.000008536" "{PMID:Goetz 2020:32893963}" "" "c.1995C>A, p.Tyr665Stop Homozygous" "" "Unknown" "" "" "0" "" "" "g.94060702G>T" "" "pathogenic (recessive)" ""
"0000773506" "0" "70" "1" "94496548" "94496548" "subst" "2.43787E-5" "01695" "ABCA4_000088" "g.94496548G>A" "2, 120802, 0, 0.00001656" "{PMID:Goetz 2020:32893963}" "" "c.4253+4C>T, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94030992G>A" "" "likely pathogenic (recessive)" ""
"0000773507" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Goetz 2020:32893963}" "" "c.5882G>A, p.(Gly1961Glu) Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000773508" "0" "70" "1" "94463399" "94463413" "del" "0" "01695" "ABCA4_000851" "g.94463399_94463413del" "" "{PMID:Goetz 2020:32893963}" "" "c.IVS48+5_19del15, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.93997843_93997857del" "" "likely pathogenic (recessive)" ""
"0000773509" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "42, 120772, 0, 0.0003478" "{PMID:Goetz 2020:32893963}" "" "c.5714+5G>A, heterozygous" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000773510" "0" "90" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "227, 121250, 3, 0.001872" "{PMID:Goetz 2020:32893963}" "" "c.6320G>A, p.Arg2107His Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94001068C>T" "" "pathogenic (recessive)" ""
"0000773511" "0" "70" "1" "94577111" "94577111" "subst" "0" "01695" "ABCA4_002230" "g.94577111G>A" "" "{PMID:Goetz 2020:32893963}" "" "c.185C>T, p.Pro62Leu Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94111555G>A" "" "likely pathogenic (recessive)" ""
"0000773512" "0" "30" "1" "94496602" "94496602" "subst" "0.0234538" "01695" "ABCA4_000913" "g.94496602G>T" "2957, 120728, 46, 0.02449" "{PMID:Goetz 2020:32893963}" "" "c.4203C>A, p.Pro1401Pro Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94031046G>T" "" "likely benign" ""
"0000773513" "0" "70" "1" "94490567" "94490567" "subst" "5.68528E-5" "01695" "ABCA4_000026" "g.94490567G>A" "4, 121406, 0, 0.00003295" "{PMID:Goetz 2020:32893963}" "" "c.4577C>T, p.Thr1526Met Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94025011G>A" "" "likely pathogenic (recessive)" ""
"0000773514" "0" "50" "1" "94568675" "94568675" "subst" "0.00146249" "01695" "ABCA4_000210" "g.94568675T>C" "159, 120956, 0, 0.001315" "{PMID:Goetz 2020:32893963}" "" "c.466A>G, p.Ile156Val Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94103119T>C" "" "VUS" ""
"0000773515" "0" "50" "1" "94568675" "94568675" "subst" "0.00146249" "01695" "ABCA4_000210" "g.94568675T>C" "159, 120956, 0, 0.001315" "{PMID:Goetz 2020:32893963}" "" "c.466A>G, p.Ile156Val Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94103119T>C" "" "VUS" ""
"0000773516" "0" "90" "1" "94495009" "94495009" "dup" "0" "01695" "ABCA4_000087" "g.94495009dup" "" "{PMID:Goetz 2020:32893963}" "" "c.4537dup" "" "Unknown" "" "" "0" "" "" "g.94029453dup" "" "pathogenic (recessive)" ""
"0000773517" "0" "70" "1" "94528226" "94528226" "subst" "0" "01695" "ABCA4_002077" "g.94528226A>G" "" "{PMID:Goetz 2020:32893963}" "" "c.1844T>C, p.Val615Ala Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94062670A>G" "" "likely pathogenic (recessive)" ""
"0000773518" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "5406, 121330, 156, 0.04456" "{PMID:Goetz 2020:32893963}" "" "c.5603A>T, p.(Asn1868Ile) Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000773519" "3" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "5406, 121330, 156, 0.04456" "{PMID:Goetz 2020:32893963}" "" "c.5603A>T, p.Asp.Asn1868Ile Homozygous" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000773520" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Goetz 2020:32893963}" "" "c.5882G>A, p.Gly1961Glu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000773521" "0" "70" "1" "94577135" "94577135" "subst" "2.43718E-5" "01695" "ABCA4_000240" "g.94577135C>T" "2, 121210, 0, 0.0000165" "{PMID:Goetz 2020:32893963}" "" "c.161G>A, p.Cys54Tyr Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94111579C>T" "" "likely pathogenic (recessive)" ""
"0000773522" "0" "90" "1" "94508386" "94508386" "subst" "1.62443E-5" "01695" "ABCA4_000642" "g.94508386C>T" "4, 121376, 0, 0.00003296" "{PMID:Goetz 2020:32893963}" "" "c.3259G>A, p.Glu1087Lys Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94042830C>T" "" "pathogenic (recessive)" ""
"0000773523" "0" "70" "1" "94528143" "94528143" "subst" "0.00124448" "01695" "ABCA4_000076" "g.94528143C>T" "196, 121108, 1, 0.001618" "{PMID:Goetz 2020:32893963}" "" "c.1927G>A, p.Val643Met Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94062587C>T" "" "likely pathogenic (recessive)" ""
"0000773524" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "173, 121304, 0, 0.001426" "{PMID:Goetz 2020:32893963}" "" "c.3113C>T, p.Ala1038Val Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000773525" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Goetz 2020:32893963}" "" "c.5461-10T>C, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000773526" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "173, 121304, 0, 0.001426" "{PMID:Goetz 2020:32893963}" "" "c.3113C>T, p.Ala1038Val Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000773527" "0" "90" "1" "94517226" "94517226" "del" "0" "01695" "ABCA4_002003" "g.94517226del" "" "{PMID:Goetz 2020:32893963}" "" "c.2616delC, p.Leu874Phefs*27 Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94051670del" "" "pathogenic (recessive)" ""
"0000773528" "0" "70" "1" "94476842" "94476842" "subst" "2.43764E-5" "01695" "ABCA4_001682" "g.94476842C>A" "" "{PMID:Goetz 2020:32893963}" "" "c.5560G>T, p.Val1854Leu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94011286C>A" "" "likely pathogenic (recessive)" ""
"0000773529" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "6, 119038, 0, 0.0000504" "{PMID:Goetz 2020:32893963}" "" "c.1804C>T, p.Arg602Trp Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94062710G>A" "" "pathogenic (recessive)" ""
"0000773530" "0" "70" "1" "94480241" "94480241" "subst" "7.71705E-5" "01695" "ABCA4_000446" "g.94480241G>A" "14, 121408, 0, 0.0001153" "{PMID:Goetz 2020:32893963}" "" "c.5318C>T, p.Ala1773Val Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94014685G>A" "" "likely pathogenic (recessive)" ""
"0000773531" "0" "90" "1" "94544158" "94544158" "del" "0" "01695" "ABCA4_000315" "g.94544158del" "" "{PMID:Goetz 2020:32893963}" "" "c.1344delG, p.M448fs heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94078602del" "" "pathogenic (recessive)" ""
"0000773532" "0" "50" "1" "94526276" "94526276" "subst" "0" "01695" "ABCA4_000765" "g.94526276C>T" "" "{PMID:Goetz 2020:32893963}" "" "1977G>A, p.Met659Ile Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94060720C>T" "" "VUS" ""
"0000773533" "0" "90" "1" "94520690" "94520690" "subst" "2.03102E-5" "01695" "ABCA4_000149" "g.94520690C>T" "4, 121342, 0, 0.00003296" "{PMID:Goetz 2020:32893963}" "" "c.2564G>A, p.W855X heterozygous" "" "Unknown" "" "" "0" "" "" "g.94055134C>T" "" "pathogenic (recessive)" ""
"0000773534" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "5406, 121330, 156, 0.04456" "{PMID:Goetz 2020:32893963}" "" "c.5603A>T, p.Asp.Asn1868Ile Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000773535" "0" "90" "1" "94508456" "94508456" "subst" "4.0621E-6" "01695" "ABCA4_000650" "g.94508456T>C" "" "{PMID:Goetz 2020:32893963}" "" "c.3191-2A>G, Splicing Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94042900T>C" "" "pathogenic (recessive)" ""
"0000773536" "0" "90" "1" "94485173" "94485174" "del" "0" "01695" "ABCA4_000468" "g.94485173_94485174del" "" "{PMID:Goetz 2020:32893963}" "" "c.5161_5162delAC, p.Thr1721HisfsX65 Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94019617_94019618del" "" "pathogenic (recessive)" ""
"0000773537" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Goetz 2020:32893963}" "" "c.5882G>A, p.Gly1961Glu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000773538" "0" "50" "1" "94578549" "94578549" "subst" "9.34238E-5" "01695" "ABCA4_002241" "g.94578549G>A" "" "{PMID:Goetz 2020:32893963}" "" "c.140C>T, p.Pro47Leu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94112993G>A" "" "VUS" ""
"0000773539" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Goetz 2020:32893963}" "" "c.5882G>A, p.Gly1961Glu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000773540" "0" "90" "1" "94577046" "94577049" "dup" "0" "01695" "ABCA4_000227" "g.94577046_94577049dup" "" "{PMID:Goetz 2020:32893963}" "" "c.247_250dup" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94111490_94111493dup" "" "pathogenic (recessive)" ""
"0000773541" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "24, 119274, 0, 0.0002012" "{PMID:Goetz 2020:32893963}" "" "c.4139C>T, p.Pro1380Leu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000773542" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Goetz 2020:32893963}" "" "c.5882G>A, p.Gly1961Glu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000773543" "0" "90" "1" "94496568" "94496568" "subst" "0" "01695" "ABCA4_001838" "g.94496568G>A" "" "{PMID:Goetz 2020:32893963}" "" "c.4237C>T, p.Gln1413Stop Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94031012G>A" "" "pathogenic (recessive)" ""
"0000773544" "0" "50" "1" "94485257" "94485257" "subst" "0.00017945" "01695" "ABCA4_000100" "g.94485257C>T" "26, 109132, 0, 0.0002382" "{PMID:Goetz 2020:32893963}" "" "c.5077G>A, p.Val1693Ile Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94019701C>T" "" "VUS" ""
"0000773545" "0" "50" "1" "94568675" "94568675" "subst" "0.00146249" "01695" "ABCA4_000210" "g.94568675T>C" "159, 120956, 0, 0.001315" "{PMID:Goetz 2020:32893963}" "" "c.466A>G, p.Ile156Val Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94103119T>C" "" "VUS" ""
"0000773546" "0" "70" "1" "94577010" "94577010" "subst" "0" "01695" "ABCA4_002222" "g.94577010T>A" "" "{PMID:Goetz 2020:32893963}" "" "c.286A>T, p.Asn96Tyr heterozygous" "" "Unknown" "" "" "0" "" "" "g.94111454T>A" "" "likely pathogenic (recessive)" ""
"0000773547" "0" "70" "1" "94512488" "94512488" "subst" "0" "01695" "ABCA4_001977" "g.94512488T>C" "" "{PMID:Goetz 2020:32893963}" "" "c.2905A>G, p.Lys969Glu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94046932T>C" "" "likely pathogenic (recessive)" ""
"0000773548" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Goetz 2020:32893963}" "" "c.5882G>A, p.Gly1961Glu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000773549" "0" "70" "1" "94528263" "94528263" "subst" "0" "01695" "ABCA4_001348" "g.94528263A>G" "" "{PMID:Goetz 2020:32893963}" "" "c.1807T>C, p.Tyr603His Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94062707A>G" "" "likely pathogenic (recessive)" ""
"0000773550" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "5406, 121330, 156, 0.04456" "{PMID:Goetz 2020:32893963}" "" "c.5603A>T, p.(Asn1868Ile) Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000773551" "0" "70" "1" "94546261" "94546261" "subst" "0.000648567" "01695" "ABCA4_000353" "g.94546261G>A" "65, 120922, 1, 0.0005375" "{PMID:Goetz 2020:32893963}" "" "c.872C>T, p.Pro291Leu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94080705G>A" "" "likely pathogenic (recessive)" ""
"0000773552" "0" "50" "1" "94480146" "94480146" "subst" "2.84273E-5" "01695" "ABCA4_000122" "g.94480146T>C" "2, 121410, 0, 0.00001647" "{PMID:Goetz 2020:32893963}" "" "c.5413A>G, p.Asn1805Asp heterozygous" "" "Unknown" "" "" "0" "" "" "g.94014590T>C" "" "VUS" ""
"0000773553" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Goetz 2020:32893963}" "" "c.5461-10T>C, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000773554" "0" "50" "1" "94526920" "94526920" "subst" "0" "01695" "ABCA4_002063" "g.94526920G>A" "" "{PMID:Goetz 2020:32893963}" "" "c.1938-605C>T, Intronic Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94061364G>A" "" "VUS" ""
"0000773555" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "26, 121404, 0, 0.0002142" "{PMID:Goetz 2020:32893963}" "" "c.6079C>T, p.Leu2027Phe Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic (recessive)" ""
"0000773556" "0" "70" "1" "94466422" "94466422" "subst" "2.43651E-5" "01695" "ABCA4_000817" "g.94466422C>T" "3, 121398, 0, 0.00002471" "{PMID:Goetz 2020:32893963}" "" "c.6449G>A, p.Cys2150Tyr Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94000866C>T" "" "likely pathogenic (recessive)" ""
"0000773557" "0" "90" "1" "94488975" "94488975" "subst" "0" "01695" "ABCA4_000517" "g.94488975C>A" "" "{PMID:Goetz 2020:32893963}" "" "c.4635-1G>T, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94023419C>A" "" "pathogenic (recessive)" ""
"0000773558" "0" "70" "1" "94466434" "94466434" "subst" "0" "01695" "ABCA4_000821" "g.94466434C>T" "" "{PMID:Goetz 2020:32893963}" "" "c.6437G>A, p.Gly2146Asp Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94000878C>T" "" "likely pathogenic (recessive)" ""
"0000773559" "0" "70" "1" "94466561" "94466561" "subst" "8.12288E-6" "01695" "ABCA4_000834" "g.94466561T>C" "1, 121390, 0, 0.000008238" "{PMID:Goetz 2020:32893963}" "" "c.6383A>G, p.His2128Arg Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94001005T>C" "" "likely pathogenic (recessive)" ""
"0000773560" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "42, 120772, 0, 0.0003478" "{PMID:Goetz 2020:32893963}" "" "c.IVS40+5G>A, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000773561" "0" "70" "1" "94502318" "94502323" "del" "0" "01695" "ABCA4_000591" "g.94502318_94502323del" "" "{PMID:Goetz 2020:32893963}" "" "c.3840_3845delTGATTC, p.Asp1281_Ser1282del Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94036762_94036767del" "" "likely pathogenic (recessive)" ""
"0000773562" "0" "50" "1" "94502756" "94502756" "subst" "0.000422575" "01695" "ABCA4_000032" "g.94502756G>A" "37, 121234, 1, 0.0003052" "{PMID:Goetz 2020:32893963}" "" "c.3758C>T, p.Thr1253Met Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94037200G>A" "" "VUS" ""
"0000773563" "0" "70" "1" "94512636" "94512636" "subst" "4.06669E-6" "01695" "ABCA4_001334" "g.94512636T>G" "1, 120372, 0, 0.000008308" "{PMID:Goetz 2020:32893963}" "" "c.2757A>C, p.Glu919Asp Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94047080T>G" "" "likely pathogenic (recessive)" ""
"0000773564" "0" "50" "1" "94514466" "94514466" "subst" "0.00192081" "01695" "ABCA4_000008" "g.94514466T>C" "212, 121284, 0, 0.001748" "{PMID:Goetz 2020:32893963}" "" "c.2701A>G, p.Thr901Ala Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94048910T>C" "" "VUS" ""
"0000773565" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "173, 121304, 0, 0.001426" "{PMID:Goetz 2020:32893963}" "" "c.3113C>T, p.Ala1038Val Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000773566" "0" "70" "1" "94528143" "94528143" "subst" "0.00124448" "01695" "ABCA4_000076" "g.94528143C>T" "196, 121108, 1, 0.001618" "{PMID:Goetz 2020:32893963}" "" "c.1927G>A, p.Val643Met Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94062587C>T" "" "likely pathogenic (recessive)" ""
"0000773567" "0" "90" "1" "94526296" "94526296" "subst" "1.64555E-5" "01695" "ABCA4_000768" "g.94526296G>A" "1, 96614, 0, 0.00001035" "{PMID:Goetz 2020:32893963}" "" "c.1957C>T, p.Arg653Cys Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94060740G>A" "" "pathogenic (recessive)" ""
"0000773568" "0" "50" "1" "94497613" "94497613" "subst" "0.000118927" "01695" "ABCA4_001864" "g.94497613T>C" "" "{PMID:Goetz 2020:32893963}" "" "c.3863-14A>G, Intronic Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94032057T>C" "" "VUS" ""
"0000773569" "0" "90" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "21, 121302, 0, 0.0001731" "{PMID:Goetz 2020:32893963}" "" "c.2894A>G, p.Asn965Ser Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94046943T>C" "" "pathogenic (recessive)" ""
"0000773570" "0" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "12, 60116, 0, 0.0001996" "{PMID:Goetz 2020:32893963}" "" "c.4469G>A, p.Cys1490Tyr Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94029515C>T" "" "likely pathogenic (recessive)" ""
"0000773571" "0" "90" "1" "94481380" "94481390" "del" "0" "01695" "ABCA4_000458" "g.94481380_94481390del" "" "{PMID:Goetz 2020:32893963}" "" "c.5222_5232del, p.Leu1741fs Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94015824_94015834del" "" "pathogenic (recessive)" ""
"0000773572" "0" "70" "1" "94528265" "94528265" "subst" "2.44212E-5" "01695" "ABCA4_000284" "g.94528265C>T" "2, 119074, 0, 0.0000168" "{PMID:Goetz 2020:32893963}" "" "c.1805G>A, p.Arg602Gln Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94062709C>T" "" "likely pathogenic (recessive)" ""
"0000773573" "0" "90" "1" "94528132" "94528132" "subst" "4.06835E-6" "01695" "ABCA4_000773" "g.94528132C>T" "1, 120972, 0, 0.000008266" "{PMID:Goetz 2020:32893963}" "" "c.IVS13+1G>A, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94062576C>T" "" "pathogenic (recessive)" ""
"0000773574" "0" "90" "1" "94528132" "94528132" "subst" "4.06835E-6" "01695" "ABCA4_000773" "g.94528132C>T" "1, 120972, 0, 0.000008266" "{PMID:Goetz 2020:32893963}" "" "c.IVS13+1G>A, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94062576C>T" "" "pathogenic (recessive)" ""
"0000773575" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "15, 121412, 0, 0.0001235" "{PMID:Goetz 2020:32893963}" "" "c.1622T>C, p.Leu541Pro heterozygous" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000773576" "0" "90" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "227, 121250, 3, 0.001872" "{PMID:Goetz 2020:32893963}" "" "c.6320G>A, p.Arg2107His Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94001068C>T" "" "pathogenic (recessive)" ""
"0000773577" "0" "70" "1" "94480241" "94480241" "subst" "7.71705E-5" "01695" "ABCA4_000446" "g.94480241G>A" "14, 121408, 0, 0.0001153" "{PMID:Goetz 2020:32893963}" "" "c.5318C>T, p.Ala1773Val Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94014685G>A" "" "likely pathogenic (recessive)" ""
"0000773578" "0" "90" "1" "94510248" "94510248" "subst" "0.000544123" "01695" "ABCA4_000107" "g.94510248C>G" "87, 121410, 0, 0.0007166" "{PMID:Goetz 2020:32893963}" "" "c.2971G>C, p.Gly991Arg Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94044692C>G" "" "pathogenic (recessive)" ""
"0000773579" "0" "90" "1" "94510248" "94510248" "subst" "0.000544123" "01695" "ABCA4_000107" "g.94510248C>G" "87, 121410, 0, 0.0007166" "{PMID:Goetz 2020:32893963}" "" "c.2971G>C, p.Gly991Arg Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94044692C>G" "" "pathogenic (recessive)" ""
"0000773580" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Goetz 2020:32893963}" "" "c.2588G>C, p.Gly863Ala Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000773581" "0" "30" "1" "94496602" "94496602" "subst" "0.0234538" "01695" "ABCA4_000913" "g.94496602G>T" "2957, 120728, 46, 0.02449" "{PMID:Goetz 2020:32893963}" "" "c.4203C>A, p.Pro1401Pro Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94031046G>T" "" "likely benign" ""
"0000773582" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Goetz 2020:32893963}" "" "c.2588G>C, p.Gly863Ala Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000773583" "0" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "12, 60116, 0, 0.0001996" "{PMID:Goetz 2020:32893963}" "" "c.4469G>A, p.Cys1490Tyr Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94029515C>T" "" "likely pathogenic (recessive)" ""
"0000773584" "0" "30" "1" "94564500" "94564500" "subst" "0.000643469" "01695" "ABCA4_002189" "g.94564500G>A" "" "{PMID:Goetz 2020:32893963}" "" "c.618C>T, p.Ser206Ser Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94098944G>A" "" "likely benign" ""
"0000773585" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Goetz 2020:32893963}" "" "c.2588G>C, p.Gly863Ala Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000773586" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Goetz 2020:32893963}" "" "c.2588G>C, p.Gly863Ala Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000773587" "0" "70" "1" "94568632" "94568632" "subst" "0" "01695" "ABCA4_002203" "g.94568632T>G" "" "{PMID:Goetz 2020:32893963}" "" "c.509>C, p.Asn170Thr Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94103076T>G" "" "likely pathogenic (recessive)" ""
"0000773588" "0" "70" "1" "94546207" "94546207" "subst" "0.000101665" "01695" "ABCA4_000083" "g.94546207G>C" "16, 121336, 0, 0.0001319" "{PMID:Goetz 2020:32893963}" "" "c.926C>G, p.Pro309rg Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94080651G>C" "" "likely pathogenic (recessive)" ""
"0000773589" "0" "50" "1" "94463428" "94463428" "subst" "1.62621E-5" "01695" "ABCA4_000854" "g.94463428T>C" "2, 121086, 0, 0.00001652" "{PMID:Goetz 2020:32893963}" "" "c.6718A>G, p.Thr2240Ala Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.93997872T>C" "" "VUS" ""
"0000773590" "0" "70" "1" "94577093" "94577093" "subst" "8.12394E-6" "01695" "ABCA4_000147" "g.94577093G>A" "2, 121276, 0, 0.00001649" "{PMID:Goetz 2020:32893963}" "" "c.203C>T, p.Pro68Leu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94111537G>A" "" "likely pathogenic (recessive)" ""
"0000773591" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Goetz 2020:32893963}" "" "c.2588G>C, p.Gly863Ala Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000773592" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Goetz 2020:32893963}" "" "c.5461-10T>C, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000773593" "0" "70" "1" "94495177" "94495177" "subst" "1.22342E-5" "01695" "ABCA4_000023" "g.94495177A>G" "2, 109474, 0, 0.00001827" "{PMID:Goetz 2020:32893963}" "" "c.4363T>C, p.Cys1455Arg Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94029621A>G" "" "likely pathogenic (recessive)" ""
"0000773594" "0" "90" "1" "94526247" "94526248" "del" "0" "01695" "ABCA4_000761" "g.94526247_94526248del" "" "{PMID:Goetz 2020:32893963}" "" "c.2005_2006delAT, p.Met2669spfsX96 Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94060691_94060692del" "" "pathogenic (recessive)" ""
"0000773595" "0" "70" "1" "94528819" "94528819" "subst" "2.03128E-5" "01695" "ABCA4_000078" "g.94528819G>A" "2, 121412, 0, 0.00001647" "{PMID:Goetz 2020:32893963}" "" "c.1609C>T, p.Arg537Cys Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94063263G>A" "" "likely pathogenic (recessive)" ""
"0000773596" "0" "90" "1" "94502832" "94502832" "subst" "0" "01695" "ABCA4_001879" "g.94502832C>A" "" "{PMID:Goetz 2020:32893963}" "" "c.3682G>T, p.Glu1228Ter Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94037276C>A" "" "pathogenic (recessive)" ""
"0000773597" "0" "90" "1" "94473820" "94473823" "del" "0" "01695" "ABCA4_001646" "g.94473820_94473823del" "" "{PMID:Goetz 2020:32893963}" "" "c.5867_5870delACAG, p.Asp1956GlyfsX17 Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94008264_94008267del" "" "pathogenic (recessive)" ""
"0000773598" "0" "50" "1" "94476377" "94476377" "subst" "0.00160473" "01695" "ABCA4_000411" "g.94476377C>T" "216, 121058, 1, 0.001784" "{PMID:Goetz 2020:32893963}" "" "c.5693G>A, p.Arg1898His Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94010821C>T" "" "VUS" ""
"0000773599" "0" "70" "1" "94496583" "94496583" "subst" "2.03092E-5" "01695" "ABCA4_000190" "g.94496583A>G" "1, 120898, 0, 0.000008271" "{PMID:Goetz 2020:32893963}" "" "c.4222T>C, p.Trp1408Arg Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94031027A>G" "" "likely pathogenic (recessive)" ""
"0000773600" "0" "70" "1" "94486836" "94486836" "subst" "8.12255E-6" "01695" "ABCA4_001739" "g.94486836G>A" "" "{PMID:Goetz 2020:32893963}" "" "c.4978C>T, p.Pro1660Ser Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94021280G>A" "" "likely pathogenic (recessive)" ""
"0000773601" "0" "70" "1" "94487399" "94487399" "subst" "7.30959E-5" "01695" "ABCA4_000038" "g.94487399T>C" "14, 121126, 0, 0.0001156" "{PMID:Goetz 2020:32893963}" "" "c.IVS33+3A>G, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94021843T>C" "" "likely pathogenic (recessive)" ""
"0000773602" "0" "50" "1" "94496010" "94496010" "subst" "1.62434E-5" "01695" "ABCA4_000549" "g.94496010G>T" "3, 121366, 0, 0.00002472" "{PMID:Goetz 2020:32893963}" "" "c.4326C>A, p.Asn1442Lys Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94030454G>T" "" "VUS" ""
"0000773603" "0" "90" "1" "94510253" "94510253" "subst" "0.000247694" "01695" "ABCA4_000108" "g.94510253A>G" "36, 121412, 0, 0.0002965" "{PMID:Goetz 2020:32893963}" "" "c.2966T>C, p.Val989la Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94044697A>G" "" "pathogenic (recessive)" ""
"0000773604" "0" "70" "1" "94486925" "94486925" "subst" "0" "01695" "ABCA4_001744" "g.94486925A>G" "" "{PMID:Goetz 2020:32893963}" "" "c.4889T>C, p.Phe1630Ser Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94021369A>G" "" "likely pathogenic (recessive)" ""
"0000773605" "0" "30" "1" "94461754" "94461754" "subst" "0.0642229" "01695" "ABCA4_000951" "g.94461754A>G" "" "{PMID:Goetz 2020:32893963}" "" "c.6730-3T>C, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.93996198A>G" "" "likely benign" ""
"0000773606" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "42, 120772, 0, 0.0003478" "{PMID:Goetz 2020:32893963}" "" "c.5714+5G>A, Intronic Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000773607" "0" "50" "1" "94487404" "94487404" "subst" "0.00244055" "01695" "ABCA4_000497" "g.94487404C>T" "317, 121146, 0, 0.002617" "{PMID:Goetz 2020:32893963}" "" "c.4771G>A, p.Gly1591Arg Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94021848C>T" "" "VUS" ""
"0000773608" "0" "70" "1" "94528819" "94528819" "subst" "2.03128E-5" "01695" "ABCA4_000078" "g.94528819G>A" "2, 121412, 0, 0.00001647" "{PMID:Goetz 2020:32893963}" "" "c.1609C>T, p.Arg537Cys Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94063263G>A" "" "likely pathogenic (recessive)" ""
"0000773609" "0" "70" "1" "94546283" "94546283" "subst" "8.18311E-5" "01695" "ABCA4_000356" "g.94546283A>G" "18, 120572, 0, 0.0001493" "{PMID:Goetz 2020:32893963}" "" "c.IVS7-9T>C, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94080727A>G" "" "likely pathogenic (recessive)" ""
"0000773610" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "5406, 121330, 156, 0.04456" "{PMID:Goetz 2020:32893963}" "" "c.5603A>T, p.(Asn1868Ile) Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000773611" "0" "90" "1" "94526296" "94526296" "subst" "1.64555E-5" "01695" "ABCA4_000768" "g.94526296G>A" "1, 96614, 0, 0.00001035" "{PMID:Goetz 2020:32893963}" "" "c.1957C>T, p.Arg653Cys heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94060740G>A" "" "pathogenic (recessive)" ""
"0000773612" "0" "90" "1" "94526296" "94526296" "subst" "1.64555E-5" "01695" "ABCA4_000768" "g.94526296G>A" "1, 96614, 0, 0.00001035" "{PMID:Goetz 2020:32893963}" "" "c.1957C>T, p.Arg653Cys heterozygous" "" "Unknown" "" "" "0" "" "" "g.94060740G>A" "" "pathogenic (recessive)" ""
"0000773613" "0" "90" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "227, 121250, 3, 0.001872" "{PMID:Goetz 2020:32893963}" "" "c.6320G>A, p.Arg2107His Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94001068C>T" "" "pathogenic (recessive)" ""
"0000773614" "0" "90" "1" "94488972" "94488972" "subst" "0" "01695" "ABCA4_001777" "g.94488972A>C" "" "{PMID:Goetz 2020:32893963}" "" "c.4637T>G, p.Leu1546Ter Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94023416A>C" "" "pathogenic (recessive)" ""
"0000773615" "0" "90" "1" "94508386" "94508386" "subst" "1.62443E-5" "01695" "ABCA4_000642" "g.94508386C>T" "4, 121376, 0, 0.00003296" "{PMID:Goetz 2020:32893963}" "" "c.3259G>A, p.Glu1087Lys Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94042830C>T" "" "pathogenic (recessive)" ""
"0000773616" "0" "90" "1" "94485137" "94485137" "subst" "0" "01695" "ABCA4_000464" "g.94485137C>T" "3, 49858, 0, 0.00006017" "{PMID:Goetz 2020:32893963}" "" "c.5196+1G>A, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94019581C>T" "" "pathogenic (recessive)" ""
"0000773617" "0" "70" "1" "94485221" "94485221" "subst" "0" "01695" "ABCA4_000471" "g.94485221G>A" "4, 103872, 0, 0.00003851" "{PMID:Goetz 2020:32893963}" "" "c.5113C>T, p.Arg1705Trp Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94019665G>A" "" "likely pathogenic (recessive)" ""
"0000773618" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Goetz 2020:32893963}" "" "c.5882G>A, p.Gly1961Glu Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000773619" "0" "90" "1" "94497564" "94497564" "subst" "1.64383E-5" "01695" "ABCA4_000091" "g.94497564G>A" "4, 118564, 0, 0.00003374" "{PMID:Goetz 2020:32893963}" "" "c.3898C>T, p.Arg1300Ter Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94032008G>A" "" "pathogenic (recessive)" ""
"0000773620" "0" "90" "1" "94576988" "94576988" "subst" "0" "01695" "ABCA4_002219" "g.94576988A>G" "" "{PMID:Goetz 2020:32893963}" "" "c.IVS3+6T>C, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94111432A>G" "" "pathogenic (recessive)" ""
"0000773621" "0" "50" "1" "94506935" "94506935" "subst" "4.06098E-6" "01695" "ABCA4_000626" "g.94506935G>A" "1, 121380, 0, 0.000008239" "{PMID:Goetz 2020:32893963}" "" "c.3352C>T, p.His1118Try Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94041379G>A" "" "VUS" ""
"0000773622" "0" "70" "1" "94517233" "94517233" "subst" "4.06161E-6" "01695" "ABCA4_000706" "g.94517233G>A" "1, 120440, 0, 0.000008303" "{PMID:Goetz 2020:32893963}" "" "c.2609C>T, p.Pro870Leu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94051677G>A" "" "likely pathogenic (recessive)" ""
"0000773623" "0" "50" "1" "94568675" "94568675" "subst" "0.00146249" "01695" "ABCA4_000210" "g.94568675T>C" "159, 120956, 0, 0.001315" "{PMID:Goetz 2020:32893963}" "" "c.466A>G, p.Ile156Val Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94103119T>C" "" "VUS" ""
"0000773624" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "14, 121282, 0, 0.0001154" "{PMID:Goetz 2020:32893963}" "" "c.3322C>T, p.Arg1108Cys Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000773625" "3" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "5406, 121330, 156, 0.04456" "{PMID:Goetz 2020:32893963}" "" "c.5603A>T, p.Asp.Asn1868Ile Homozygous" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000773626" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "26, 121404, 0, 0.0002142" "{PMID:Goetz 2020:32893963}" "" "c.6079C>T, p.Leu2027Phe Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic (recessive)" ""
"0000773627" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Goetz 2020:32893963}" "" "c.2588G>C, p.Gly863Ala Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000773628" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "5406, 121330, 156, 0.04456" "{PMID:Goetz 2020:32893963}" "" "c.5603A>T, p.Asp.Asn1868Ile Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000773629" "0" "70" "1" "94480230" "94480230" "subst" "6.09177E-5" "01695" "ABCA4_001053" "g.94480230T>A" "9, 121410, 0, 0.00007413" "{PMID:Goetz 2020:32893963}" "" "c.5329A>T, p.Met1777Leu Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94014674T>A" "" "likely pathogenic (recessive)" ""
"0000773630" "0" "90" "1" "94508316" "94508316" "subst" "0" "01695" "ABCA4_001918" "g.94508316C>T" "" "{PMID:Goetz 2020:32893963}" "" "c.3328+1G>A, Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94042760C>T" "" "pathogenic (recessive)" ""
"0000773631" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Goetz 2020:32893963}" "" "c.2588G>C, p.Gly863Ala Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000773632" "0" "90" "1" "94508435" "94508436" "dup" "0" "01695" "ABCA4_000998" "g.94508435_94508436dup" "" "{PMID:Goetz 2020:32893963}" "" "c.3210_3211dup" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94042879_94042880dup" "" "pathogenic (recessive)" ""
"0000773633" "0" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "12, 60116, 0, 0.0001996" "{PMID:Goetz 2020:32893963}" "" "c.4469G>A, p.Cys1490Tyr Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94029515C>T" "" "likely pathogenic (recessive)" ""
"0000773634" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Goetz 2020:32893963}" "" "c.5882G>A, p.Gly1961Glu Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000773635" "0" "50" "1" "94528713" "94528713" "subst" "0" "01695" "ABCA4_000295" "g.94528713C>G" "" "{PMID:Goetz 2020:32893963}" "" "c.1715G>C, p.Arg572Pro Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94063157C>G" "" "VUS" ""
"0000773636" "0" "70" "1" "94510271" "94510271" "subst" "0" "01695" "ABCA4_000670" "g.94510271G>A" "" "{PMID:Goetz 2020:32893963}" "" "c.2948C>T, p.Thr983Ile Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94044715G>A" "" "likely pathogenic (recessive)" ""
"0000773637" "0" "50" "1" "94564451" "94564451" "subst" "0.000150413" "01695" "ABCA4_000378" "g.94564451T>G" "23, 121120, 0, 0.0001899" "{PMID:Goetz 2020:32893963}" "" "c.667A>C, p.Lys223Gln Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94098895T>G" "" "VUS" ""
"0000773638" "0" "70" "1" "94577117" "94577117" "subst" "1.62472E-5" "01695" "ABCA4_000237" "g.94577117G>A" "1, 121292, 0, 0.000008245" "{PMID:Goetz 2020:32893963}" "" "c.179C>T, p.Ala60Val heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94111561G>A" "" "likely pathogenic (recessive)" ""
"0000773639" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "5406, 121330, 156, 0.04456" "{PMID:Goetz 2020:32893963}" "" "c.5603A>T, p.Asp.Asn1868Ile Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000773640" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Goetz 2020:32893963}" "" "c.5882G>A, p.Gly1961Glu Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000773641" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "173, 121304, 0, 0.001426" "{PMID:Goetz 2020:32893963}" "" "c.3113C>T, p.Ala1038Val Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000773642" "0" "70" "1" "94487251" "94487251" "subst" "2.85679E-5" "01695" "ABCA4_000490" "g.94487251G>T" "3, 113672, 0, 0.00002639" "{PMID:Goetz 2020:32893963}" "" "c.4793C>A, p.Ala1598Asp Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94021695G>T" "" "likely pathogenic (recessive)" ""
"0000773643" "0" "70" "1" "94471154" "94471154" "subst" "0.156733" "01695" "ABCA4_000881" "g.94471154C>T" "" "{PMID:Goetz 2020:32893963}" "" "c.IVS43-16G>A, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94005598C>T" "" "likely pathogenic (recessive)" ""
"0000773644" "0" "70" "1" "94577135" "94577135" "subst" "2.43718E-5" "01695" "ABCA4_000240" "g.94577135C>T" "2, 121210, 0, 0.0000165" "{PMID:Goetz 2020:32893963}" "" "c.161G>A, p.Cys54Try Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94111579C>T" "" "likely pathogenic (recessive)" ""
"0000773645" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "173, 121304, 0, 0.001426" "{PMID:Goetz 2020:32893963}" "" "c.3113C>T, p.Ala1038Val Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000773646" "0" "70" "1" "94487399" "94487399" "subst" "7.30959E-5" "01695" "ABCA4_000038" "g.94487399T>C" "14, 121126, 0, 0.0001156" "{PMID:Goetz 2020:32893963}" "" "c.4773+3A>G, Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94021843T>C" "" "likely pathogenic (recessive)" ""
"0000773647" "0" "90" "1" "94522186" "94522193" "dup" "0" "01695" "ABCA4_002038" "g.94522186_94522193dup" "" "{PMID:Goetz 2020:32893963}" "" "c.2349_2356dup" "" "Unknown" "" "" "0" "" "" "g.94056630_94056637dup" "" "pathogenic (recessive)" ""
"0000773648" "0" "90" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "14, 120056, 0, 0.0001166" "{PMID:Goetz 2020:32893963}" "" "c.634C>T, p.Arg212Cys Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94098928G>A" "" "pathogenic (recessive)" ""
"0000773649" "0" "30" "1" "94496602" "94496602" "subst" "0.0234538" "01695" "ABCA4_000913" "g.94496602G>T" "2957, 120728, 46, 0.02449" "{PMID:Goetz 2020:32893963}" "" "c.4203C>A, p.Pro1401Pro Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94031046G>T" "" "likely benign" ""
"0000773650" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "14, 121282, 0, 0.0001154" "{PMID:Goetz 2020:32893963}" "" "c.3322C>T, p.Arg1108Cys Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000773651" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Goetz 2020:32893963}" "" "c.5461-10T>C, Intronic Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000773652" "0" "70" "1" "94520801" "94520801" "subst" "0.000211489" "01695" "ABCA4_000724" "g.94520801C>T" "24, 121324, 0, 0.0001978" "{PMID:Goetz 2020:32893963}" "" "c.2453G>A, p.Gly818Glu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94055245C>T" "" "likely pathogenic (recessive)" ""
"0000773653" "0" "70" "1" "94487251" "94487251" "subst" "2.85679E-5" "01695" "ABCA4_000490" "g.94487251G>T" "3, 113672, 0, 0.00002639" "{PMID:Goetz 2020:32893963}" "" "c.4793C>A, p.Ala1598Asp Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94021695G>T" "" "likely pathogenic (recessive)" ""
"0000773654" "0" "70" "1" "94496547" "94496547" "subst" "4.06345E-6" "01695" "ABCA4_000559" "g.94496547C>A" "1, 120798, 0, 0.000008278" "{PMID:Goetz 2020:32893963}" "" "c.4253+5G>T, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94030991C>A" "" "likely pathogenic (recessive)" ""
"0000773655" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "14, 121282, 0, 0.0001154" "{PMID:Goetz 2020:32893963}" "" "c.3322C>T, p.Arg1108Cys Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000773656" "0" "50" "1" "94487460" "94487460" "subst" "0.000113716" "01695" "ABCA4_000505" "g.94487460G>A" "15, 121334, 0, 0.0001236" "{PMID:Goetz 2020:32893963}" "" "c.4715C>T, p.Thr1572Met Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94021904G>A" "" "VUS" ""
"0000773657" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "42, 120772, 0, 0.0003478" "{PMID:Goetz 2020:32893963}" "" "c.IVS40+5G>A, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000773658" "3" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Goetz 2020:32893963}" "" "c.5882G>A, p.Gly1961Glu Homozygous" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000773659" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Goetz 2020:32893963}" "" "c.5882G>A, p.Gly1961Glu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000773660" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "26, 121404, 0, 0.0002142" "{PMID:Goetz 2020:32893963}" "" "c.6079C>T, p.Leu2027Phe Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic (recessive)" ""
"0000773661" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "24, 119274, 0, 0.0002012" "{PMID:Goetz 2020:32893963}" "" "c.4139C>T, p.Pro1380Leu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000773662" "0" "50" "1" "94473240" "94473240" "subst" "0" "01695" "ABCA4_001635" "g.94473240G>A" "" "{PMID:Goetz 2020:32893963}" "" "c.5955C>T, p.Leu1985Leu Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94007684G>A" "" "VUS" ""
"0000773663" "0" "50" "1" "94476377" "94476377" "subst" "0.00160473" "01695" "ABCA4_000411" "g.94476377C>T" "216, 121058, 1, 0.001784" "{PMID:Goetz 2020:32893963}" "" "c.5693G>A, p.Arg1898His Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94010821C>T" "" "VUS" ""
"0000773664" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Goetz 2020:32893963}" "" "c.5461-10T>C, IVS38-10T>C Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000773665" "0" "90" "1" "94473298" "94473298" "del" "0" "01695" "ABCA4_000396" "g.94473298del" "" "{PMID:Goetz 2020:32893963}" "" "c.5899-2delA, Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94007742del" "" "pathogenic (recessive)" ""
"0000773666" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "14, 121282, 0, 0.0001154" "{PMID:Goetz 2020:32893963}" "" "c.3322C>T, p.Arg1108Cys Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000773667" "0" "50" "1" "94517234" "94517234" "subst" "0" "01695" "ABCA4_000073" "g.94517234G>A" "" "{PMID:Goetz 2020:32893963}" "" "c.2608C>T, p.Pro870Ser Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94051678G>A" "" "VUS" ""
"0000773668" "0" "70" "1" "94490588" "94490588" "subst" "6.90361E-5" "01695" "ABCA4_001498" "g.94490588G>A" "" "{PMID:Goetz 2020:32893963}" "" "c.4556C>T, p.Thr1519Met Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94025032G>A" "" "likely pathogenic (recessive)" ""
"0000773669" "3" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "6, 119038, 0, 0.0000504" "{PMID:Goetz 2020:32893963}" "" "c.1804C>T, p.Arg602Trp Homozygous" "" "Unknown" "" "" "0" "" "" "g.94062710G>A" "" "pathogenic (recessive)" ""
"0000773670" "0" "70" "1" "94490567" "94490567" "subst" "5.68528E-5" "01695" "ABCA4_000026" "g.94490567G>A" "4, 121406, 0, 0.00003295" "{PMID:Goetz 2020:32893963}" "" "c.4577C>T, p.Thr1526Met Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94025011G>A" "" "likely pathogenic (recessive)" ""
"0000773671" "0" "90" "1" "94528868" "94528868" "del" "0" "01695" "ABCA4_000304" "g.94528868del" "" "{PMID:Goetz 2020:32893963}" "" "c.1561delG, p.Val521Serfs*47 Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94063312del" "" "pathogenic (recessive)" ""
"0000773672" "0" "30" "1" "94496602" "94496602" "subst" "0.0234538" "01695" "ABCA4_000913" "g.94496602G>T" "2957, 120728, 46, 0.02449" "{PMID:Goetz 2020:32893963}" "" "c.4203C>A, p.Pro1401Pro Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94031046G>T" "" "likely benign" ""
"0000773673" "0" "30" "1" "94496602" "94496602" "subst" "0.0234538" "01695" "ABCA4_000913" "g.94496602G>T" "2957, 120728, 46, 0.02449" "{PMID:Goetz 2020:32893963}" "" "c.4203C>A, p.Pro1401Pro Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94031046G>T" "" "likely benign" ""
"0000773674" "0" "90" "1" "94510248" "94510248" "subst" "0.000544123" "01695" "ABCA4_000107" "g.94510248C>G" "87, 121410, 0, 0.0007166" "{PMID:Goetz 2020:32893963}" "" "c.2971G>C, p.Gly991Arg heterozygous" "" "Unknown" "" "" "0" "" "" "g.94044692C>G" "" "pathogenic (recessive)" ""
"0000773675" "0" "90" "1" "94466556" "94466556" "subst" "4.06164E-6" "01695" "ABCA4_000831" "g.94466556G>C" "" "{PMID:Goetz 2020:32893963}" "" "c.6386+2C>G, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94001000G>C" "" "pathogenic (recessive)" ""
"0000773676" "0" "90" "1" "94502706" "94502706" "subst" "0" "01695" "ABCA4_000597" "g.94502706C>A" "" "{PMID:Goetz 2020:32893963}" "" "c.3808G>T, p.Glu1270Ter Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94037150C>A" "" "pathogenic (recessive)" ""
"0000773677" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Goetz 2020:32893963}" "" "c.5461-10T>C, IVS38-10T>C Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000773678" "0" "70" "1" "94509023" "94509023" "subst" "0" "01695" "ABCA4_001956" "g.94509023A>T" "" "{PMID:Goetz 2020:32893963}" "" "c.3059T>A, p.Val1020Glu Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94043467A>T" "" "likely pathogenic (recessive)" ""
"0000773679" "0" "30" "1" "94564446" "94564446" "subst" "0.000629989" "01695" "ABCA4_002183" "g.94564446C>T" "" "{PMID:Goetz 2020:32893963}" "" "c.672G>A, p.Thr224Thr Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94098890C>T" "" "likely benign" ""
"0000773680" "0" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "12, 60116, 0, 0.0001996" "{PMID:Goetz 2020:32893963}" "" "c.4469G>A, p.Cys1490Tyr Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94029515C>T" "" "likely pathogenic (recessive)" ""
"0000773681" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "24, 119274, 0, 0.0002012" "{PMID:Goetz 2020:32893963}" "" "c.4139C>T, p.Pro1380Leu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000773682" "0" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "12, 60116, 0, 0.0001996" "{PMID:Goetz 2020:32893963}" "" "c.4469G>A, p.Cys1490Tyr Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94029515C>T" "" "likely pathogenic (recessive)" ""
"0000773683" "0" "90" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "14, 120056, 0, 0.0001166" "{PMID:Goetz 2020:32893963}" "" "c.634C>T, p.R212C Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94098928G>A" "" "pathogenic (recessive)" ""
"0000773684" "0" "70" "1" "94528679" "94528679" "subst" "2.84368E-5" "01695" "ABCA4_000292" "g.94528679C>G" "5, 121412, 0, 0.00004118" "{PMID:Goetz 2020:32893963}" "" "c.1749G>C, p.Lys583Asn Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94063123C>G" "" "likely pathogenic (recessive)" ""
"0000773685" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Goetz 2020:32893963}" "" "c.5882G>A, p.Gly1961Glu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000773686" "0" "50" "1" "94508986" "94508986" "subst" "1.62537E-5" "01695" "ABCA4_001951" "g.94508986T>A" "" "{PMID:Goetz 2020:32893963}" "" "c.3096A>T, p.Gly1032Gly Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94043430T>A" "" "VUS" ""
"0000773687" "0" "70" "1" "94471046" "94471046" "subst" "0" "01695" "ABCA4_000793" "g.94471046A>C" "" "{PMID:Goetz 2020:32893963}" "" "c.6098T>G, p.Leu2033Arg Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94005490A>C" "" "likely pathogenic (recessive)" ""
"0000773688" "0" "70" "1" "94473244" "94473244" "subst" "4.07169E-6" "01695" "ABCA4_001449" "g.94473244A>C" "" "{PMID:Goetz 2020:32893963}" "" "c.5951 T>G, p.Met1984Arg Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94007688A>C" "" "likely pathogenic (recessive)" ""
"0000773689" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "26, 121404, 0, 0.0002142" "{PMID:Goetz 2020:32893963}" "" "c.6079C>T, p.Leu2027Phe Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic (recessive)" ""
"0000773690" "0" "70" "1" "94543281" "94543281" "subst" "4.0661E-6" "01695" "ABCA4_000309" "g.94543281C>A" "1, 121136, 0, 0.000008255" "{PMID:Goetz 2020:32893963}" "" "c.1519G>T, p.Asp507Tyr Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94077725C>A" "" "likely pathogenic (recessive)" ""
"0000773691" "0" "90" "1" "94510248" "94510248" "subst" "0.000544123" "01695" "ABCA4_000107" "g.94510248C>G" "87, 121410, 0, 0.0007166" "{PMID:Goetz 2020:32893963}" "" "c.2971G>C, p.Gly991Arg Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94044692C>G" "" "pathogenic (recessive)" ""
"0000773692" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Goetz 2020:32893963}" "" "c.5882G>A, p.Gly1961Glu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000773693" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Goetz 2020:32893963}" "" "c.5461-10T>C, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000773694" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "42, 120772, 0, 0.0003478" "{PMID:Goetz 2020:32893963}" "" "c.5714+5G>A, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000773695" "0" "70" "1" "94522228" "94522228" "subst" "6.52342E-5" "01695" "ABCA4_002041" "g.94522228T>A" "" "{PMID:Goetz 2020:32893963}" "" "c.2311A>T, p.Thr771Ser Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94056672T>A" "" "likely pathogenic (recessive)" ""
"0000773696" "0" "70" "1" "94520793" "94520793" "subst" "8.13292E-6" "01695" "ABCA4_000723" "g.94520793A>T" "1, 121346, 0, 0.000008241" "{PMID:Goetz 2020:32893963}" "" "c.2461T>A, p.Trp821Arg heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94055237A>T" "" "likely pathogenic (recessive)" ""
"0000773697" "0" "90" "1" "94574223" "94574224" "del" "0" "01695" "ABCA4_000215" "g.94574223_94574224del" "" "{PMID:Goetz 2020:32893963}" "" "c.351_352delAG, p.S119Pfs heterozygous" "" "Unknown" "" "" "0" "" "" "g.94108667_94108668del" "" "pathogenic (recessive)" ""
"0000773698" "0" "70" "1" "94506902" "94506902" "subst" "1.21834E-5" "01695" "ABCA4_000623" "g.94506902G>A" "2, 121396, 0, 0.00001648" "{PMID:Goetz 2020:32893963}" "" "c.3385C>T, p.Arg1129Cys Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94041346G>A" "" "likely pathogenic (recessive)" ""
"0000773699" "0" "70" "1" "94486895" "94486895" "subst" "3.24923E-5" "01695" "ABCA4_000484" "g.94486895C>T" "7, 121398, 0, 0.00005766" "{PMID:Goetz 2020:32893963}" "" "c.4919G>A, p.Arg1640Gln Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94021339C>T" "" "likely pathogenic (recessive)" ""
"0000773700" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "14, 121282, 0, 0.0001154" "{PMID:Goetz 2020:32893963}" "" "c.3322C>T, p.Arg1108Cys heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000773701" "0" "50" "1" "94502756" "94502756" "subst" "0.000422575" "01695" "ABCA4_000032" "g.94502756G>A" "37, 121234, 1, 0.0003052" "{PMID:Goetz 2020:32893963}" "" "c.3758C>T, p.T1253M heterozygous" "" "Unknown" "" "" "0" "" "" "g.94037200G>A" "" "VUS" ""
"0000773702" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Goetz 2020:32893963}" "" "c.5882G>A, p.Gly1961Glu Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000773703" "0" "50" "1" "94476824" "94476824" "subst" "8.12889E-6" "01695" "ABCA4_000428" "g.94476824G>A" "" "{PMID:Goetz 2020:32893963}" "" "c.5778C>T, p.Arg1860Trp heterozygous" "" "Unknown" "" "" "0" "" "" "g.94011268G>A" "" "VUS" ""
"0000773704" "0" "90" "1" "94467530" "94467530" "subst" "0" "01695" "ABCA4_001448" "g.94467530T>A" "" "{PMID:Goetz 2020:32893963}" "" "c.6166A>T, p.K2056X heterozygous" "" "Unknown" "" "" "0" "" "" "g.94001974T>A" "" "pathogenic (recessive)" ""
"0000773705" "0" "70" "1" "94471055" "94471055" "subst" "0.00035346" "01695" "ABCA4_000029" "g.94471055C>T" "47, 121404, 1, 0.0003871" "{PMID:Goetz 2020:32893963}" "" "c.6089G>A, p.Arg2030Gln Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94005499C>T" "" "likely pathogenic (recessive)" ""
"0000773706" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Goetz 2020:32893963}" "" "c.5461-10T>C, IVS38-10T>C heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000773707" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Goetz 2020:32893963}" "" "c.2588G>C, p.Gly863Ala Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000773708" "0" "70" "1" "94574147" "94574147" "subst" "8.12236E-6" "01695" "ABCA4_000213" "g.94574147G>A" "" "{PMID:Goetz 2020:32893963}" "" "c.428C>T, p.Pro143Leu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94108591G>A" "" "likely pathogenic (recessive)" ""
"0000773709" "0" "70" "1" "94528819" "94528819" "subst" "2.03128E-5" "01695" "ABCA4_000078" "g.94528819G>A" "2, 121412, 0, 0.00001647" "{PMID:Goetz 2020:32893963}" "" "c.1609C>T, p.Arg537Cys Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94063263G>A" "" "likely pathogenic (recessive)" ""
"0000773710" "0" "90" "1" "94466628" "94466628" "subst" "0.000109748" "01695" "ABCA4_000094" "g.94466628G>A" "14, 121222, 0, 0.0001155" "{PMID:Goetz 2020:32893963}" "" "c.6316C>T, p.Arg2106Cys Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94001072G>A" "" "pathogenic (recessive)" ""
"0000773711" "0" "90" "1" "94546248" "94546248" "del" "2.03666E-5" "01695" "ABCA4_000352" "g.94546248del" "" "{PMID:Goetz 2020:32893963}" "" "c.885delC, p.Leu296fs Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94080692del" "" "pathogenic (recessive)" ""
"0000773712" "0" "70" "1" "94495078" "94495078" "subst" "8.37044E-6" "01695" "ABCA4_000042" "g.94495078A>G" "1, 70400, 0, 0.0000142" "{PMID:Goetz 2020:32893963}" "" "c.4462T>C, p.Cys1488Arg Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94029522A>G" "" "likely pathogenic (recessive)" ""
"0000773713" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Goetz 2020:32893963}" "" "c.5882G>A, p.Gly1961Glu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000773714" "0" "50" "1" "94548928" "94548928" "subst" "0.000382223" "01695" "ABCA4_002162" "g.94548928T>A" "" "{PMID:Goetz 2020:32893963}" "" "c.838A>T, p.Met280Leu Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94083372T>A" "" "VUS" ""
"0000773715" "0" "70" "1" "94564500" "94564500" "subst" "0.00100414" "01695" "ABCA4_000069" "g.94564500G>C" "162, 118200, 0, 0.001371" "{PMID:Goetz 2020:32893963}" "" "c.618C>G, p.Ser206Arg Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94098944G>C" "" "likely pathogenic (recessive)" ""
"0000773716" "0" "70" "1" "94495157" "94495157" "subst" "4.06752E-6" "01695" "ABCA4_001815" "g.94495157C>G" "" "{PMID:Goetz 2020:32893963}" "" "c.4383G>C, p.Trp1461Cys Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94029601C>G" "" "likely pathogenic (recessive)" ""
"0000773717" "0" "90" "1" "94576993" "94576993" "subst" "2.03513E-5" "01695" "ABCA4_000069" "g.94576993C>T" "4, 119416, 0, 0.0000335" "{PMID:Goetz 2020:32893963}" "" "c.302+1G>A, Splicing Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94111437C>T" "" "pathogenic (recessive)" ""
"0000773718" "0" "90" "1" "94495009" "94495009" "dup" "0" "01695" "ABCA4_000087" "g.94495009dup" "" "{PMID:Goetz 2020:32893963}" "" "c.4537dup" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94029453dup" "" "pathogenic (recessive)" ""
"0000773719" "0" "70" "1" "94487251" "94487251" "subst" "2.85679E-5" "01695" "ABCA4_000490" "g.94487251G>T" "3, 113672, 0, 0.00002639" "{PMID:Goetz 2020:32893963}" "" "c.4793C>A, p.Ala1598Asp Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94021695G>T" "" "likely pathogenic (recessive)" ""
"0000773720" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "24, 119274, 0, 0.0002012" "{PMID:Goetz 2020:32893963}" "" "c.4139C>T, p.Pro1380Leu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000773721" "0" "70" "1" "94486818" "94486818" "subst" "0.00010559" "01695" "ABCA4_001737" "g.94486818C>T" "" "{PMID:Goetz 2020:32893963}" "" "c.4996G>A, p.Glu1666Lys Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94021262C>T" "" "likely pathogenic (recessive)" ""
"0000773722" "3" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "24, 119274, 0, 0.0002012" "{PMID:Goetz 2020:32893963}" "" "c.4139C>T, p.Pro1380Leu Homozygous" "" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000773723" "0" "90" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "14, 120056, 0, 0.0001166" "{PMID:Goetz 2020:32893963}" "" "c.634C>T, p.Arg212Cys Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94098928G>A" "" "pathogenic (recessive)" ""
"0000773724" "0" "90" "1" "94461752" "94461752" "subst" "0" "01695" "ABCA4_000849" "g.94461752C>G" "" "{PMID:Goetz 2020:32893963}" "" "c.6730-1G>C, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.93996196C>G" "" "pathogenic (recessive)" ""
"0000773725" "0" "50" "1" "94496610" "94496610" "subst" "2.03128E-5" "01695" "ABCA4_000571" "g.94496610C>T" "2, 120596, 0, 0.00001658" "{PMID:Goetz 2020:32893963}" "" "c.4195G>A, p.Glu1399Lys Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94031054C>T" "" "VUS" ""
"0000773726" "0" "70" "1" "94473845" "94473846" "inv" "0" "01695" "ABCA4_000403" "g.94473845_94473846inv" "" "{PMID:Goetz 2020:32893963}" "" "c.5843_5844delinsTG, p.Pro1948Leu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94008289_94008290inv" "" "likely pathogenic (recessive)" ""
"0000773727" "0" "70" "1" "94577135" "94577135" "subst" "2.43718E-5" "01695" "ABCA4_000240" "g.94577135C>T" "2, 121210, 0, 0.0000165" "{PMID:Goetz 2020:32893963}" "" "c.161G>A, p.C54Y Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94111579C>T" "" "likely pathogenic (recessive)" ""
"0000773728" "0" "90" "1" "94526296" "94526296" "subst" "1.64555E-5" "01695" "ABCA4_000768" "g.94526296G>A" "1, 96614, 0, 0.00001035" "{PMID:Goetz 2020:32893963}" "" "c.1957C>T, p.Arg653Cys Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94060740G>A" "" "pathogenic (recessive)" ""
"0000773729" "0" "70" "1" "94577135" "94577135" "subst" "2.43718E-5" "01695" "ABCA4_000240" "g.94577135C>T" "2, 121210, 0, 0.0000165" "{PMID:Goetz 2020:32893963}" "" "c.161G>A, p.C54Y Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94111579C>T" "" "likely pathogenic (recessive)" ""
"0000773730" "0" "90" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "227, 121250, 3, 0.001872" "{PMID:Goetz 2020:32893963}" "" "c.6320G>A, p.Arg2107His Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94001068C>T" "" "pathogenic (recessive)" ""
"0000773731" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Goetz 2020:32893963}" "" "c.5461-10T>C, Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000773732" "0" "70" "1" "94528258" "94528258" "subst" "0" "01695" "ABCA4_002081" "g.94528258G>C" "" "{PMID:Goetz 2020:32893963}" "" "c.1812C>G, p.Ile604Met Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94062702G>C" "" "likely pathogenic (recessive)" ""
"0000773733" "3" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "24, 119274, 0, 0.0002012" "{PMID:Goetz 2020:32893963}" "" "c.4139C>T, p.Pro1380Leu Homozygous" "" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000773734" "0" "70" "1" "94522272" "94522272" "subst" "6.92171E-5" "01695" "ABCA4_002045" "g.94522272G>A" "" "{PMID:Goetz 2020:32893963}" "" "c.2267C>T, p.Ser756Phe Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94056716G>A" "" "likely pathogenic (recessive)" ""
"0000773735" "0" "70" "1" "94467475" "94467475" "subst" "1.62463E-5" "01695" "ABCA4_001599" "g.94467475C>T" "" "{PMID:Goetz 2020:32893963}" "" "c.6221G>A, p.Gly2074Asp Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94001919C>T" "" "likely pathogenic (recessive)" ""
"0000773736" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Goetz 2020:32893963}" "" "c.5882G>A, p.Gly1961Glu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000773737" "0" "70" "1" "94528143" "94528143" "subst" "0.00124448" "01695" "ABCA4_000076" "g.94528143C>T" "196, 121108, 1, 0.001618" "{PMID:Goetz 2020:32893963}" "" "c.1927G>A, p.Val643Met Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94062587C>T" "" "likely pathogenic (recessive)" ""
"0000773738" "0" "70" "1" "94577117" "94577117" "subst" "1.62472E-5" "01695" "ABCA4_000237" "g.94577117G>A" "1, 121292, 0, 0.000008245" "{PMID:Goetz 2020:32893963}" "" "c.179C>T, p.Ala60Val Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94111561G>A" "" "likely pathogenic (recessive)" ""
"0000773739" "0" "70" "1" "94577117" "94577117" "subst" "1.62472E-5" "01695" "ABCA4_000237" "g.94577117G>A" "1, 121292, 0, 0.000008245" "{PMID:Goetz 2020:32893963}" "" "c.179C>T, p.Ala60Val Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94111561G>A" "" "likely pathogenic (recessive)" ""
"0000773740" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "14, 121282, 0, 0.0001154" "{PMID:Goetz 2020:32893963}" "" "c.3322C>T, p.Arg1108Cys Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000773741" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "173, 121304, 0, 0.001426" "{PMID:Goetz 2020:32893963}" "" "c.3113C>T, p.A1038V Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000773742" "0" "70" "1" "94486896" "94486896" "subst" "3.65562E-5" "01695" "ABCA4_000085" "g.94486896G>A" "1, 121394, 0, 0.000008238" "{PMID:Goetz 2020:32893963}" "" "c.4918C>T, p.Arg1640Trp Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94021340G>A" "" "likely pathogenic (recessive)" ""
"0000773743" "0" "70" "1" "94473281" "94473281" "subst" "0" "01695" "ABCA4_000393" "g.94473281C>T" "" "{PMID:Goetz 2020:32893963}" "" "c.5914G>A, p.Gly1972Arg heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94007725C>T" "" "likely pathogenic (recessive)" ""
"0000773744" "0" "70" "1" "94486895" "94486895" "subst" "3.24923E-5" "01695" "ABCA4_000484" "g.94486895C>T" "7, 121398, 0, 0.00005766" "{PMID:Goetz 2020:32893963}" "" "c.4918G>A, p.Arg1640Gln Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94021339C>T" "" "likely pathogenic (recessive)" ""
"0000773745" "0" "90" "1" "94517254" "94517254" "subst" "4.06478E-6" "01695" "ABCA4_000158" "g.94517254C>T" "" "{PMID:Goetz 2020:32893963}" "" "c.2588G>A, p.Gly863Ala Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94051698C>T" "" "pathogenic (recessive)" ""
"0000773746" "0" "70" "1" "94512478" "94512478" "subst" "3.65871E-5" "01695" "ABCA4_000678" "g.94512478G>T" "7, 121308, 0, 0.0000577" "{PMID:Goetz 2020:32893963}" "" "c.2915C>A, p.Thr972Asn heterozygous" "" "Unknown" "" "" "0" "" "" "g.94046922G>T" "" "likely pathogenic (recessive)" ""
"0000773747" "0" "70" "1" "94520869" "94520869" "subst" "0" "01695" "ABCA4_000729" "g.94520869G>C" "" "{PMID:Goetz 2020:32893963}" "" "c.2385C>G, p.Ser795Arg Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94055313G>C" "" "likely pathogenic (recessive)" ""
"0000773748" "0" "70" "1" "94471055" "94471055" "subst" "0.00035346" "01695" "ABCA4_000029" "g.94471055C>T" "47, 121404, 1, 0.0003871" "{PMID:Goetz 2020:32893963}" "" "c.6089G>A, p.Arg2030Gln heterozygous" "" "Unknown" "" "" "0" "" "" "g.94005499C>T" "" "likely pathogenic (recessive)" ""
"0000773749" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "24, 119274, 0, 0.0002012" "{PMID:Goetz 2020:32893963}" "" "c.4139C>T, p.Pro1380Leu heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000773750" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "24, 119274, 0, 0.0002012" "{PMID:Goetz 2020:32893963}" "" "c.4139C>T, p.Pro1380Leu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000773751" "0" "90" "1" "94481380" "94481390" "del" "0" "01695" "ABCA4_000458" "g.94481380_94481390del" "" "{PMID:Goetz 2020:32893963}" "" "c.5222del11, Frameshift Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94015824_94015834del" "" "pathogenic (recessive)" ""
"0000773752" "0" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "12, 60116, 0, 0.0001996" "{PMID:Goetz 2020:32893963}" "" "c.4469G>A, p.Ter1490Tyr heterozygous" "" "Unknown" "" "" "0" "" "" "g.94029515C>T" "" "likely pathogenic (recessive)" ""
"0000773753" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "14, 121282, 0, 0.0001154" "{PMID:Goetz 2020:32893963}" "" "c.3322C>T, p.Arg1108Cys Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000773754" "0" "50" "1" "94546265" "94546265" "subst" "2.04063E-5" "01695" "ABCA4_000355" "g.94546265G>A" "4, 120876, 0, 0.00003309" "{PMID:Goetz 2020:32893963}" "" "c.868C>T, p.Arg290Trp heterozygous" "" "Unknown" "" "" "0" "" "" "g.94080709G>A" "" "VUS" ""
"0000773755" "0" "90" "1" "94577046" "94577049" "dup" "0" "01695" "ABCA4_000227" "g.94577046_94577049dup" "" "{PMID:Goetz 2020:32893963}" "" "c.250InsCAAA, p.Ser84fs heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94111490_94111493dup" "" "pathogenic (recessive)" ""
"0000773756" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "14, 121282, 0, 0.0001154" "{PMID:Goetz 2020:32893963}" "" "c.3322C>T, p.Arg1108Cys Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000773757" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Goetz 2020:32893963}" "" "c.5882G>A, p.Gly1961Glu Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000773758" "0" "70" "1" "94508404" "94508404" "subst" "0" "01695" "ABCA4_001934" "g.94508404T>C" "" "{PMID:Goetz 2020:32893963}" "" "c.3241A>G, p.Lys1081Glu heterozygous" "" "Unknown" "" "" "0" "" "" "g.94042848T>C" "" "likely pathogenic (recessive)" ""
"0000773759" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "15, 121412, 0, 0.0001235" "{PMID:Goetz 2020:32893963}" "" "c.1622T>C, p.Leu541Pro heterozygous" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000773760" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Goetz 2020:32893963}" "" "c.2588G>C, p.Gly863Ala heterozygous" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000773761" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Goetz 2020:32893963}" "" "c.5882G>A, p.Gly1961Glu heterozygous" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000773762" "0" "90" "1" "94467460" "94467461" "del" "0" "01695" "ABCA4_000778" "g.94467460_94467461del" "" "{PMID:Goetz 2020:32893963}" "" "c.6238_6239del, p.Ser2080HisFsX15 Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94001904_94001905del" "" "pathogenic (recessive)" ""
"0000773763" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "13, 121216, 0, 0.0001072" "{PMID:Goetz 2020:32893963}" "" "c.768G>T, heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000773764" "0" "50" "1" "94543268" "94543268" "subst" "0.000778106" "01695" "ABCA4_000306" "g.94543268C>T" "97, 120202, 0, 0.000807" "{PMID:Goetz 2020:32893963}" "" "c.1532G>A, p.Arg511His Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94077712C>T" "" "VUS" ""
"0000773765" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "173, 121304, 0, 0.001426" "{PMID:Goetz 2020:32893963}" "" "c.3113C>T, p.A1038V heterozygous" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000773766" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Goetz 2020:32893963}" "" "c.5882G>A, p.G1961E heterozygous" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000773767" "0" "70" "1" "94528217" "94528217" "subst" "0" "01695" "ABCA4_000272" "g.94528217C>T" "" "{PMID:Goetz 2020:32893963}" "" "c.1853G>A, p.Gly618Glu heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94062661C>T" "" "likely pathogenic (recessive)" ""
"0000773768" "0" "90" "1" "94526092" "94526092" "subst" "0" "01695" "ABCA4_000749" "g.94526092C>A" "" "{PMID:Goetz 2020:32893963}" "" "c.2160+1G>T, p.2160+1G>T heterozygous" "" "Unknown" "" "" "0" "" "" "g.94060536C>A" "" "pathogenic (recessive)" ""
"0000773769" "0" "90" "1" "94471056" "94471056" "subst" "2.84398E-5" "01695" "ABCA4_000050" "g.94471056G>A" "3, 121402, 0, 0.00002471" "{PMID:Goetz 2020:32893963}" "" "c.6088C>T, p.Arg2030Ter heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94005500G>A" "" "pathogenic (recessive)" ""
"0000773770" "0" "70" "1" "94486895" "94486895" "subst" "3.24923E-5" "01695" "ABCA4_000484" "g.94486895C>T" "7, 121398, 0, 0.00005766" "{PMID:Goetz 2020:32893963}" "" "c.4919G>A, p.R1640Q heterozygous" "" "Unknown" "" "" "0" "" "" "g.94021339C>T" "" "likely pathogenic (recessive)" ""
"0000773771" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Goetz 2020:32893963}" "" "c.5882G>A, p.G1961E Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000773772" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Goetz 2020:32893963}" "" "c.2588G>C, p.Gly863Ala Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000773773" "0" "70" "1" "94546118" "94546118" "subst" "8.13326E-6" "01695" "ABCA4_000082" "g.94546118A>C" "" "{PMID:Goetz 2020:32893963}" "" "c.1015T>G, p.Trp339Gly Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94080562A>C" "" "likely pathogenic (recessive)" ""
"0000773774" "3" "50" "1" "94486888" "94486888" "subst" "3.65548E-5" "01695" "ABCA4_000137" "g.94486888G>C" "4, 121404, 0, 0.00003295" "{PMID:Goetz 2020:32893963}" "" "c.4926C>G, p.Ser1642Arg Homozygous" "" "Unknown" "" "" "0" "" "" "g.94021332G>C" "" "VUS" ""
"0000773775" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "15, 121412, 0, 0.0001235" "{PMID:Goetz 2020:32893963}" "" "c.1622T>C, p.Leu541Pro Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000773776" "0" "70" "1" "94577117" "94577117" "subst" "1.62472E-5" "01695" "ABCA4_000237" "g.94577117G>A" "1, 121292, 0, 0.000008245" "{PMID:Goetz 2020:32893963}" "" "c.179C>T, p.Ala60Val Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94111561G>A" "" "likely pathogenic (recessive)" ""
"0000773777" "0" "70" "1" "94485279" "94485293" "del" "0" "01695" "ABCA4_000476" "g.94485279_94485293del" "" "{PMID:Goetz 2020:32893963}" "" "c.5041_5055del, p.Val1681_Cys1685del Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94019723_94019737del" "" "likely pathogenic (recessive)" ""
"0000773778" "0" "90" "1" "94568687" "94568687" "subst" "1.62641E-5" "01695" "ABCA4_000024" "g.94568687G>A" "1, 120844, 0, 0.000008275" "{PMID:Goetz 2020:32893963}" "" "c.454C>T, p.Arg152* Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94103131G>A" "" "pathogenic (recessive)" ""
"0000773779" "0" "70" "1" "94463460" "94463460" "subst" "6.90507E-5" "01695" "ABCA4_000799" "g.94463460A>G" "8, 121286, 0, 0.00006596" "{PMID:Goetz 2020:32893963}" "" "c.6686T>C, p.Leu2229Pro Heterozygous" "" "Unknown" "" "" "0" "" "" "g.93997904A>G" "" "likely pathogenic (recessive)" ""
"0000773780" "0" "50" "1" "94463425" "94463425" "subst" "0.000109787" "01695" "ABCA4_000853" "g.94463425G>C" "20, 121058, 0, 0.0001652" "{PMID:Goetz 2020:32893963}" "" "c.6721C>G, p.Leu2241Val heterozygous" "" "Unknown" "" "" "0" "" "" "g.93997869G>C" "" "VUS" ""
"0000773781" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Goetz 2020:32893963}" "" "c.5882G>A, p.Gly1961Glu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000773782" "3" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "6, 119038, 0, 0.0000504" "{PMID:Goetz 2020:32893963}" "" "c.1804C>T, p.Arg602Trp Homozygous" "" "Unknown" "" "" "0" "" "" "g.94062710G>A" "" "pathogenic (recessive)" ""
"0000773783" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Goetz 2020:32893963}" "" "2588G>C, p.Gly863Ala Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000773784" "3" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Goetz 2020:32893963}" "" "c.5882G>A, p.G1961E Homozygous" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000773785" "3" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Goetz 2020:32893963}" "" "c.5882G>A, p.Gly1961Glu Homozygous" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000773786" "0" "90" "1" "94586536" "94586536" "subst" "0" "01695" "ABCA4_000255" "g.94586536C>T" "" "{PMID:Goetz 2020:32893963}" "" "c.66G>A, p.Lys22Lys Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94120980C>T" "" "pathogenic (recessive)" ""
"0000773787" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "15, 121412, 0, 0.0001235" "{PMID:Goetz 2020:32893963}" "" "c.1622T>C, p.Leu541Pro heterozygous" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000773788" "0" "50" "1" "94487404" "94487404" "subst" "0.00244055" "01695" "ABCA4_000497" "g.94487404C>T" "317, 121146, 0, 0.002617" "{PMID:Goetz 2020:32893963}" "" "c.4771G>A, p.Gly1591Arg Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94021848C>T" "" "VUS" ""
"0000773789" "0" "50" "1" "94512574" "94512574" "subst" "0.00025589" "01695" "ABCA4_000694" "g.94512574G>C" "29, 121142, 0, 0.0002394" "{PMID:Goetz 2020:32893963}" "" "c.2819C>G, p.Pro940Arg Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94047018G>C" "" "VUS" ""
"0000773790" "0" "70" "1" "94485162" "94485162" "subst" "0" "01695" "ABCA4_000467" "g.94485162C>A" "" "{PMID:Goetz 2020:32893963}" "" "c.5172G>T, p.Trp1724Cys Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94019606C>A" "" "likely pathogenic (recessive)" ""
"0000773791" "0" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "12, 60116, 0, 0.0001996" "{PMID:Goetz 2020:32893963}" "" "c.4469G>A, p.C1490Y Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94029515C>T" "" "likely pathogenic (recessive)" ""
"0000773792" "0" "70" "1" "94484001" "94484001" "subst" "0" "01695" "ABCA4_000016" "g.94484001C>T" "" "{PMID:Goetz 2020:32893963}" "" "c.5196+1137G>A, Intronic Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94018445C>T" "" "likely pathogenic (recessive)" ""
"0000773793" "0" "70" "1" "94510164" "94510164" "subst" "1.62441E-5" "01695" "ABCA4_000144" "g.94510164C>T" "2, 121386, 0, 0.00001648" "{PMID:Goetz 2020:32893963}" "" "c.3050+5G>A, heterozygous" "" "Unknown" "" "" "0" "" "" "g.94044608C>T" "" "likely pathogenic (recessive)" ""
"0000773794" "0" "50" "1" "94502756" "94502756" "subst" "0.000422575" "01695" "ABCA4_000032" "g.94502756G>A" "37, 121234, 1, 0.0003052" "{PMID:Goetz 2020:32893963}" "" "c.3758C>T, p.Thr1253Met Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94037200G>A" "" "VUS" ""
"0000773795" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Goetz 2020:32893963}" "" "c.5882G>A, p.Gly1961Glu heterozygous" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000773796" "0" "70" "1" "94470998" "94470998" "subst" "4.06329E-6" "01695" "ABCA4_001616" "g.94470998T>G" "" "{PMID:Goetz 2020:32893963}" "" "c.6146A>C, p.Lys2049Thr heterozygous" "" "Unknown" "" "" "0" "" "" "g.94005442T>G" "" "likely pathogenic (recessive)" ""
"0000773797" "0" "50" "1" "94502293" "94502293" "subst" "0" "01695" "ABCA4_000588" "g.94502293T>C" "" "{PMID:Goetz 2020:32893963}" "" "c.IVS26+3A>G=c.3862+3A>G, Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94036737T>C" "" "VUS" ""
"0000773798" "0" "50" "1" "94502293" "94502293" "subst" "0" "01695" "ABCA4_000588" "g.94502293T>C" "" "{PMID:Goetz 2020:32893963}" "" "c.3862+3A>G, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94036737T>C" "" "VUS" ""
"0000773799" "0" "50" "1" "94546265" "94546265" "subst" "2.04063E-5" "01695" "ABCA4_000355" "g.94546265G>A" "4, 120876, 0, 0.00003309" "{PMID:Goetz 2020:32893963}" "" "c.868C>T, p.Arg290Trp heterozygous" "" "Unknown" "" "" "0" "" "" "g.94080709G>A" "" "VUS" ""
"0000773800" "0" "50" "1" "94546265" "94546265" "subst" "2.04063E-5" "01695" "ABCA4_000355" "g.94546265G>A" "4, 120876, 0, 0.00003309" "{PMID:Goetz 2020:32893963}" "" "c.868C>T, p.Arg290Trp Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94080709G>A" "" "VUS" ""
"0000773801" "3" "70" "1" "94548927" "94548927" "subst" "0" "01695" "ABCA4_002161" "g.94548927A>C" "" "{PMID:Goetz 2020:32893963}" "" "c.893T>G, p.Met280Arg Homozygous" "" "Unknown" "" "" "0" "" "" "g.94083371A>C" "" "likely pathogenic (recessive)" ""
"0000773802" "0" "50" "1" "94476495" "94476495" "subst" "0" "01695" "ABCA4_000424" "g.94476495A>G" "" "{PMID:Goetz 2020:32893963}" "" "c.IVS39-10T>C, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94010939A>G" "" "VUS" ""
"0000773803" "3" "70" "1" "94548927" "94548927" "subst" "0" "01695" "ABCA4_002161" "g.94548927A>C" "" "{PMID:Goetz 2020:32893963}" "" "c.839T>G, p.Met280Arg Homozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94083371A>C" "" "likely pathogenic (recessive)" ""
"0000773804" "0" "50" "1" "94485257" "94485257" "subst" "0.00017945" "01695" "ABCA4_000100" "g.94485257C>T" "26, 109132, 0, 0.0002382" "{PMID:Goetz 2020:32893963}" "" "c.5077G>A, p.Val1693Ile heterozygous" "" "Unknown" "" "" "0" "" "" "g.94019701C>T" "" "VUS" ""
"0000773805" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Goetz 2020:32893963}" "" "c.IVS38-10 T>C, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000773806" "0" "70" "1" "94506923" "94506923" "subst" "2.43657E-5" "01695" "ABCA4_000012" "g.94506923C>T" "3, 121394, 0, 0.00002471" "{PMID:Goetz 2020:32893963}" "" "c.3364G>A, p.Glu1122Lys Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94041367C>T" "" "likely pathogenic (recessive)" ""
"0000773807" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Goetz 2020:32893963}" "" "c.5461-10T>C, IVS38-10T>C Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000773808" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Goetz 2020:32893963}" "" "c.5882G>A, p.Gly1961Glu Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000773809" "0" "70" "1" "94508441" "94508441" "subst" "0" "01695" "ABCA4_001940" "g.94508441T>A" "" "{PMID:Goetz 2020:32893963}" "" "c.3204A>T, p.Arg1068Ser heterozygous" "" "Unknown" "" "" "0" "" "" "g.94042885T>A" "" "likely pathogenic (recessive)" ""
"0000773810" "0" "70" "1" "94487251" "94487251" "subst" "2.85679E-5" "01695" "ABCA4_000490" "g.94487251G>T" "3, 113672, 0, 0.00002639" "{PMID:Goetz 2020:32893963}" "" "c.4793C>A, p.Ala1598Asp Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94021695G>T" "" "likely pathogenic (recessive)" ""
"0000773811" "0" "70" "1" "94546118" "94546118" "subst" "8.13326E-6" "01695" "ABCA4_000082" "g.94546118A>C" "" "{PMID:Goetz 2020:32893963}" "" "c.1015T>G, p.Trp339Gly heterozygous" "" "Unknown" "" "" "0" "" "" "g.94080562A>C" "" "likely pathogenic (recessive)" ""
"0000773812" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Goetz 2020:32893963}" "" "c.5882G>A, p.Gly1961Glu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000773813" "0" "90" "1" "94544264" "94544264" "subst" "0" "01695" "ABCA4_000325" "g.94544264T>C" "" "{PMID:Goetz 2020:32893963}" "" "c.1240-2A>G, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94078708T>C" "" "pathogenic (recessive)" ""
"0000773814" "0" "90" "1" "94480243" "94480243" "subst" "4.06124E-6" "01695" "ABCA4_000448" "g.94480243C>T" "1, 121408, 0, 0.000008237" "{PMID:Goetz 2020:32893963}" "" "c.5316G>A, p.Trp1772X Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94014687C>T" "" "pathogenic (recessive)" ""
"0000773815" "0" "70" "1" "94508440" "94508440" "subst" "0" "01695" "ABCA4_001939" "g.94508440T>G" "" "{PMID:Goetz 2020:32893963}" "" "c.3205A>C, p.K1069E heterozygous" "" "Unknown" "" "" "0" "" "" "g.94042884T>G" "" "likely pathogenic (recessive)" ""
"0000773816" "0" "90" "1" "94466391" "94466391" "subst" "0" "01695" "ABCA4_000814" "g.94466391C>T" "" "{PMID:Goetz 2020:32893963}" "" "6479+1G>A, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94000835C>T" "" "pathogenic (recessive)" ""
"0000773817" "0" "90" "1" "94526296" "94526296" "subst" "1.64555E-5" "01695" "ABCA4_000768" "g.94526296G>A" "1, 96614, 0, 0.00001035" "{PMID:Goetz 2020:32893963}" "" "c.1957C>T, p.Arg653Cys Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94060740G>A" "" "pathogenic (recessive)" ""
"0000773818" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Goetz 2020:32893963}" "" "c.5882G>A, p.Gly1961Glu heterozygous" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000773819" "0" "50" "1" "94546104" "94546104" "subst" "0.00103684" "01695" "ABCA4_000941" "g.94546104A>G" "" "{PMID:Goetz 2020:32893963}" "" "c.1029T>C, p.Asn343Asn Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94080548A>G" "" "VUS" ""
"0000773820" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "5406, 121330, 156, 0.04456" "{PMID:Goetz 2020:32893963}" "" "c.5603A>T, p.(Asn1868Ile) Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000773821" "0" "70" "1" "94546261" "94546261" "subst" "0.000648567" "01695" "ABCA4_000353" "g.94546261G>A" "65, 120922, 1, 0.0005375" "{PMID:Goetz 2020:32893963}" "" "c.872C>T, p.Pro291Leu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94080705G>A" "" "likely pathogenic (recessive)" ""
"0000773822" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Goetz 2020:32893963}" "" "c.5882G>A, p.Gly1961Glu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000773823" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "13, 121216, 0, 0.0001072" "{PMID:Goetz 2020:32893963}" "" "c.768G>T, heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000773824" "0" "70" "1" "94471055" "94471055" "subst" "0.00035346" "01695" "ABCA4_000029" "g.94471055C>T" "47, 121404, 1, 0.0003871" "{PMID:Goetz 2020:32893963}" "" "c.6089G>A, p.Arg2030Gln Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94005499C>T" "" "likely pathogenic (recessive)" ""
"0000773825" "0" "90" "1" "94505611" "94505611" "subst" "0" "01695" "ABCA4_001887" "g.94505611G>A" "" "{PMID:Goetz 2020:32893963}" "" "c.3595C>T, p.Gln1199Stop Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94040055G>A" "" "pathogenic (recessive)" ""
"0000773826" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "13, 121216, 0, 0.0001072" "{PMID:Goetz 2020:32893963}" "" "c.768G>T, p.Val256Val Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000773827" "0" "70" "1" "94490567" "94490567" "subst" "5.68528E-5" "01695" "ABCA4_000026" "g.94490567G>A" "4, 121406, 0, 0.00003295" "{PMID:Goetz 2020:32893963}" "" "c.4577C>T, p.Thr1526Met Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94025011G>A" "" "likely pathogenic (recessive)" ""
"0000773828" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "13, 121216, 0, 0.0001072" "{PMID:Goetz 2020:32893963}" "" "c.768G>T, p.Val256Val Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000773829" "0" "90" "1" "94568687" "94568687" "subst" "1.62641E-5" "01695" "ABCA4_000024" "g.94568687G>A" "1, 120844, 0, 0.000008275" "{PMID:Goetz 2020:32893963}" "" "c.454C>T, p.Arg152Ter heterozygous" "" "Unknown" "" "" "0" "" "" "g.94103131G>A" "" "pathogenic (recessive)" ""
"0000773830" "0" "90" "1" "94486794" "94486794" "subst" "0" "01695" "ABCA4_000478" "g.94486794A>G" "" "{PMID:Goetz 2020:32893963}" "" "c.5018+2T>C, heterozygous" "" "Unknown" "" "" "0" "" "" "g.94021238A>G" "" "pathogenic (recessive)" ""
"0000773831" "0" "90" "1" "94568687" "94568687" "subst" "1.62641E-5" "01695" "ABCA4_000024" "g.94568687G>A" "1, 120844, 0, 0.000008275" "{PMID:Goetz 2020:32893963}" "" "c.454C>T, p.Arg152Stop Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94103131G>A" "" "pathogenic (recessive)" ""
"0000773832" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "173, 121304, 0, 0.001426" "{PMID:Goetz 2020:32893963}" "" "c.3113C>T, p.Ala1038Val Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000773833" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "173, 121304, 0, 0.001426" "{PMID:Goetz 2020:32893963}" "" "c.3113C>T, p.Ala1038Val heterozygous" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000773834" "0" "30" "1" "94517266" "94517266" "subst" "0.00217349" "01695" "ABCA4_001057" "g.94517266G>C" "" "{PMID:Goetz 2020:32893963}" "" "c.2588-12C>G, Intronic Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94051710G>C" "" "likely benign" ""
"0000773835" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "173, 121304, 0, 0.001426" "{PMID:Goetz 2020:32893963}" "" "c.3113C>T, p.Ala1038Val heterozygous" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000773836" "3" "90" "1" "94473278" "94473278" "del" "3.25908E-5" "01695" "ABCA4_000392" "g.94473278del" "" "{PMID:Goetz 2020:32893963}" "" "c.5917delG, deletion Homozygous" "" "Unknown" "" "" "0" "" "" "g.94007722del" "" "pathogenic (recessive)" ""
"0000773837" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Goetz 2020:32893963}" "" "c.5882G>A, p.Gly1961Glu Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000773838" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Goetz 2020:32893963}" "" "c.2588G>C, p.Gly863Ala Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000773839" "0" "50" "1" "94502756" "94502756" "subst" "0.000422575" "01695" "ABCA4_000032" "g.94502756G>A" "37, 121234, 1, 0.0003052" "{PMID:Goetz 2020:32893963}" "" "c.3758C>T, p.Thr1253Met heterozygous" "" "Unknown" "" "" "0" "" "" "g.94037200G>A" "" "VUS" ""
"0000773840" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "173, 121304, 0, 0.001426" "{PMID:Goetz 2020:32893963}" "" "c.3113C>T, p.Ala1038Val Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000773841" "0" "50" "1" "94487404" "94487404" "subst" "0.00244055" "01695" "ABCA4_000497" "g.94487404C>T" "317, 121146, 0, 0.002617" "{PMID:Goetz 2020:32893963}" "" "c.4771G>A, p.Gly1591Arg Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94021848C>T" "" "VUS" ""
"0000773842" "0" "70" "1" "94490567" "94490567" "subst" "5.68528E-5" "01695" "ABCA4_000026" "g.94490567G>A" "4, 121406, 0, 0.00003295" "{PMID:Goetz 2020:32893963}" "" "c.4577C>T, p.Thr1526Met Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94025011G>A" "" "likely pathogenic (recessive)" ""
"0000773843" "0" "90" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "227, 121250, 3, 0.001872" "{PMID:Goetz 2020:32893963}" "" "c.6320G>A, p.Arg2107His Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94001068C>T" "" "pathogenic (recessive)" ""
"0000773844" "0" "90" "1" "94526265" "94526265" "subst" "0" "01695" "ABCA4_000143" "g.94526265C>T" "" "{PMID:Goetz 2020:32893963}" "" "c.1988G>A, p.Trp663Ter Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94060709C>T" "" "pathogenic (recessive)" ""
"0000773845" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "173, 121304, 0, 0.001426" "{PMID:Goetz 2020:32893963}" "" "c.3113C>T, p.Ala1038Val Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000773846" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "24, 119274, 0, 0.0002012" "{PMID:Goetz 2020:32893963}" "" "c.4139C>T, p.Pro1380Leu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000773847" "1" "90" "1" "94488941" "94488941" "subst" "0" "01695" "ABCA4_001772" "g.94488941C>A" "" "{PMID:Jiang 2016:26780318}" "" "c.4667+1G>T" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94023385C>A" "" "pathogenic (recessive)" ""
"0000773848" "1" "90" "1" "94528747" "94528747" "del" "0" "01695" "ABCA4_002091" "g.94528747del" "" "{PMID:Jiang 2016:26780318}" "" "p.S561AfsTer7" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94063191del" "" "pathogenic (recessive)" ""
"0000773849" "1" "70" "1" "94508365" "94508365" "subst" "0" "01695" "ABCA4_001927" "g.94508365G>T" "" "{PMID:Jiang 2016:26780318}" "" "p.P1094T" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94042809G>T" "" "likely pathogenic (recessive)" ""
"0000773850" "1" "70" "1" "94490534" "94490534" "subst" "0.000125895" "01695" "ABCA4_000520" "g.94490534G>A" "" "{PMID:Jiang 2016:26780318}" "" "p.T1537M" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94024978G>A" "" "likely pathogenic (recessive)" ""
"0000773851" "2" "90" "1" "94463667" "94463667" "subst" "0" "01695" "ABCA4_001371" "g.94463667C>A" "" "{PMID:Jiang 2016:26780318}" "" "c.6480-1G>T" "" "Unknown" "yes" "" "0" "" "" "g.93998111C>A" "" "pathogenic (recessive)" ""
"0000773852" "1" "70" "1" "94471049" "94471049" "subst" "0" "01695" "ABCA4_000795" "g.94471049T>C" "" "{PMID:Jiang 2016:26780318}" "" "p.H2032R" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94005493T>C" "" "likely pathogenic (recessive)" ""
"0000773853" "1" "90" "1" "94487401" "94487401" "subst" "0" "01695" "ABCA4_000495" "g.94487401C>A" "" "{PMID:Jiang 2016:26780318}" "" "c.4773+1G>T" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94021845C>A" "" "pathogenic (recessive)" ""
"0000773854" "1" "90" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Jiang 2016:26780318}" "" "p.N965S" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94046943T>C" "" "pathogenic (recessive)" ""
"0000773855" "2" "50" "1" "94474381" "94474381" "subst" "1.21849E-5" "01695" "ABCA4_000410" "g.94474381C>T" "" "{PMID:Jiang 2016:26780318}" "" "p.V1921M" "" "Unknown" "yes" "" "0" "" "" "g.94008825C>T" "" "VUS" ""
"0000773856" "2" "70" "1" "94546150" "94546150" "subst" "4.06828E-6" "01695" "ABCA4_000346" "g.94546150T>A" "" "{PMID:Jiang 2016:26780318}" "" "p.E328V;p.E1036K" "" "Unknown" "yes" "" "0" "" "" "g.94080594T>A" "" "likely pathogenic (recessive)" ""
"0000773857" "2" "70" "1" "94508976" "94508976" "subst" "1.21906E-5" "01695" "ABCA4_000655" "g.94508976C>T" "" "{PMID:Jiang 2016:26780318}" "" "p.E328V;p.E1036K" "" "Unknown" "yes" "" "0" "" "" "g.94043420C>T" "" "likely pathogenic (recessive)" ""
"0000773858" "2" "70" "1" "94528786" "94528786" "subst" "0" "01695" "ABCA4_002099" "g.94528786A>G" "" "{PMID:Jiang 2016:26780318}" "" "p.W548R" "" "Unknown" "yes" "" "0" "" "" "g.94063230A>G" "" "likely pathogenic (recessive)" ""
"0000773859" "2" "90" "1" "94508947" "94508948" "ins" "0" "01695" "ABCA4_001379" "g.94508947_94508948insT" "" "{PMID:Jiang 2016:26780318}" "" "p.M1045IfsTer13" "" "Unknown" "yes" "" "0" "" "" "g.94043391_94043392insT" "" "pathogenic (recessive)" ""
"0000773860" "2" "50" "1" "94502737" "94502737" "subst" "0" "01695" "ABCA4_001292" "g.94502737G>C" "" "{PMID:Jiang 2016:26780318}" "" "p.L1259L*" "" "Unknown" "yes" "" "0" "" "" "g.94037181G>C" "" "VUS" ""
"0000773861" "2" "90" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Jiang 2016:26780318}" "" "p.N965S" "" "Unknown" "yes" "" "0" "" "" "g.94046943T>C" "" "pathogenic (recessive)" ""
"0000773862" "2" "50" "1" "94466655" "94466655" "subst" "0" "01695" "ABCA4_000842" "g.94466655G>A" "" "{PMID:Jiang 2016:26780318}" "" "p.P2097S" "" "Unknown" "yes" "" "0" "" "" "g.94001099G>A" "" "VUS" ""
"0000773863" "2" "70" "1" "94463583" "94463583" "subst" "8.12183E-6" "01695" "ABCA4_000806" "g.94463583A>G" "" "{PMID:Jiang 2016:26780318}" "" "p.F2188S" "" "Unknown" "yes" "" "0" "" "" "g.93998027A>G" "" "likely pathogenic (recessive)" ""
"0000773864" "2" "70" "1" "94463583" "94463583" "subst" "8.12183E-6" "01695" "ABCA4_000806" "g.94463583A>G" "" "{PMID:Jiang 2016:26780318}" "" "p.F2188S" "" "Unknown" "yes" "" "0" "" "" "g.93998027A>G" "" "likely pathogenic (recessive)" ""
"0000773865" "1" "90" "1" "94528868" "94528868" "del" "0" "01695" "ABCA4_000304" "g.94528868del" "" "{PMID:Jiang 2016:26780318}" "" "p.V521SfsTer47" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94063312del" "" "pathogenic (recessive)" ""
"0000773866" "1" "70" "1" "94463583" "94463583" "subst" "8.12183E-6" "01695" "ABCA4_000806" "g.94463583A>G" "" "{PMID:Jiang 2016:26780318}" "" "p.F2188S" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.93998027A>G" "" "likely pathogenic (recessive)" ""
"0000773867" "2" "70" "1" "94546150" "94546150" "subst" "4.06828E-6" "01695" "ABCA4_000346" "g.94546150T>A" "" "{PMID:Jiang 2016:26780318}" "" "p.E1036K; p.E328V" "" "Unknown" "yes" "" "0" "" "" "g.94080594T>A" "" "likely pathogenic (recessive)" ""
"0000773868" "2" "70" "1" "94508976" "94508976" "subst" "1.21906E-5" "01695" "ABCA4_000655" "g.94508976C>T" "" "{PMID:Jiang 2016:26780318}" "" "p.E1036K; p.E328V" "" "Unknown" "yes" "" "0" "" "" "g.94043420C>T" "" "likely pathogenic (recessive)" ""
"0000773869" "2" "70" "1" "94508976" "94508976" "subst" "1.21906E-5" "01695" "ABCA4_000655" "g.94508976C>T" "" "{PMID:Jiang 2016:26780318}" "" "p.E328V;p.E1036K" "" "Unknown" "yes" "" "0" "" "" "g.94043420C>T" "" "likely pathogenic (recessive)" ""
"0000773870" "2" "70" "1" "94578618" "94578618" "subst" "0.000166918" "01695" "ABCA4_000252" "g.94578618C>T" "" "{PMID:Jiang 2016:26780318}" "" "p.R24H" "" "Unknown" "yes" "" "0" "" "" "g.94113062C>T" "" "likely pathogenic (recessive)" ""
"0000773871" "1" "70" "1" "94473808" "94473808" "subst" "8.52861E-5" "01695" "ABCA4_000196" "g.94473808C>T" "" "{PMID:Jiang 2016:26780318}" "" "p.G1961R" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94008252C>T" "" "likely pathogenic (recessive)" ""
"0000773872" "1" "90" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Jiang 2016:26780318}" "" "p.N965S" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94046943T>C" "" "pathogenic (recessive)" ""
"0000773873" "2" "70" "1" "94463583" "94463583" "subst" "8.12183E-6" "01695" "ABCA4_000806" "g.94463583A>G" "" "{PMID:Jiang 2016:26780318}" "" "p.F2188S" "" "Unknown" "yes" "" "0" "" "" "g.93998027A>G" "" "likely pathogenic (recessive)" ""
"0000773874" "1" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Jiang 2016:26780318}" "" "p.N1868I" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000773875" "1" "90" "1" "94471026" "94471026" "subst" "1.21925E-5" "01695" "ABCA4_000791" "g.94471026G>A" "" "{PMID:Jiang 2016:26780318}" "" "p.R2040X" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94005470G>A" "" "pathogenic (recessive)" ""
"0000773876" "2" "70" "1" "94505666" "94505666" "subst" "3.80685E-5" "01695" "ABCA4_001891" "g.94505666C>T" "" "{PMID:Jiang 2016:26780318}" "" "p.S1180S*" "" "Unknown" "yes" "" "0" "" "" "g.94040110C>T" "" "likely pathogenic (recessive)" ""
"0000773877" "1" "70" "1" "94506867" "94506867" "subst" "0" "01695" "ABCA4_001296" "g.94506867G>C" "" "{PMID:Jiang 2016:26780318}" "" "p.C1140W" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94041311G>C" "" "likely pathogenic (recessive)" ""
"0000773878" "2" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Jiang 2016:26780318}" "" "c.5714+5G>A" "" "Unknown" "yes" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000773879" "2" "70" "1" "94463583" "94463583" "subst" "8.12183E-6" "01695" "ABCA4_000806" "g.94463583A>G" "" "{PMID:Jiang 2016:26780318}" "" "p.F2188S" "" "Unknown" "yes" "" "0" "" "" "g.93998027A>G" "" "likely pathogenic (recessive)" ""
"0000773880" "1" "70" "1" "94466664" "94466664" "subst" "0" "01695" "ABCA4_001589" "g.94466664G>C" "" "{PMID:Jiang 2016:26780318}" "" "c.6283-3C>G" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94001108G>C" "" "likely pathogenic (recessive)" ""
"0000773881" "1" "90" "1" "94497564" "94497564" "subst" "1.64383E-5" "01695" "ABCA4_000091" "g.94497564G>A" "" "{PMID:Jiang 2016:26780318}" "" "p.R1300X" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94032008G>A" "" "pathogenic (recessive)" ""
"0000773882" "2" "70" "1" "94463583" "94463583" "subst" "8.12183E-6" "01695" "ABCA4_000806" "g.94463583A>G" "" "{PMID:Jiang 2016:26780318}" "" "p.F2188S" "" "Unknown" "yes" "" "0" "" "" "g.93998027A>G" "" "likely pathogenic (recessive)" ""
"0000773883" "2" "70" "1" "94506923" "94506923" "subst" "2.43657E-5" "01695" "ABCA4_000012" "g.94506923C>T" "" "{PMID:Jiang 2016:26780318}" "" "p.E1122K" "" "Unknown" "yes" "" "0" "" "" "g.94041367C>T" "" "likely pathogenic (recessive)" ""
"0000773884" "2" "90" "1" "94471026" "94471026" "subst" "1.21925E-5" "01695" "ABCA4_000791" "g.94471026G>A" "" "{PMID:Jiang 2016:26780318}" "" "p.R2040X" "" "Unknown" "yes" "" "0" "" "" "g.94005470G>A" "" "pathogenic (recessive)" ""
"0000773885" "1" "70" "1" "94461717" "94461761" "dup" "0" "01695" "ABCA4_001560" "g.94461717_94461761dup" "" "{PMID:Jiang 2016:26780318}" "" "p.H2256YfsTer3" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.93996161_93996205dup" "" "likely pathogenic (recessive)" ""
"0000773886" "2" "70" "1" "94471094" "94471094" "subst" "0" "01695" "ABCA4_001629" "g.94471094C>T" "" "{PMID:Jiang 2016:26780318}" "" "p.C2017Y" "" "Unknown" "yes" "" "0" "" "" "g.94005538C>T" "" "likely pathogenic (recessive)" ""
"0000773887" "2" "70" "1" "94463583" "94463583" "subst" "8.12183E-6" "01695" "ABCA4_000806" "g.94463583A>G" "" "{PMID:Jiang 2016:26780318}" "" "p.F2188S" "" "Unknown" "yes" "" "0" "" "" "g.93998027A>G" "" "likely pathogenic (recessive)" ""
"0000773888" "2" "70" "1" "94463583" "94463583" "subst" "8.12183E-6" "01695" "ABCA4_000806" "g.94463583A>G" "" "{PMID:Jiang 2016:26780318}" "" "p.F2188S" "" "Unknown" "yes" "" "0" "" "" "g.93998027A>G" "" "likely pathogenic (recessive)" ""
"0000773889" "2" "70" "1" "94473266" "94473266" "subst" "8.14677E-6" "01695" "ABCA4_000389" "g.94473266C>T" "" "{PMID:Jiang 2016:26780318}" "" "p.G1977S" "" "Unknown" "yes" "" "0" "" "" "g.94007710C>T" "" "likely pathogenic (recessive)" ""
"0000773890" "1" "90" "1" "94486858" "94486858" "subst" "0" "01695" "ABCA4_000482" "g.94486858A>C" "" "{PMID:Jiang 2016:26780318}" "" "p.Y1652X" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94021302A>C" "" "pathogenic (recessive)" ""
"0000773891" "2" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Jiang 2016:26780318}" "" "p.N1868I" "" "Unknown" "yes" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000773892" "2" "70" "1" "94463583" "94463583" "subst" "8.12183E-6" "01695" "ABCA4_000806" "g.94463583A>G" "" "{PMID:Jiang 2016:26780318}" "" "p.F2188S" "" "Unknown" "yes" "" "0" "" "" "g.93998027A>G" "" "likely pathogenic (recessive)" ""
"0000773893" "1" "70" "1" "94508976" "94508976" "subst" "1.21906E-5" "01695" "ABCA4_000655" "g.94508976C>T" "" "{PMID:Jiang 2016:26780318}" "" "p.E328V;p.E1036K" "" "Unknown" "yes" "" "0" "" "" "g.94043420C>T" "" "likely pathogenic (recessive)" ""
"0000773894" "2" "90" "1" "94528251" "94528251" "subst" "0" "01695" "ABCA4_000077" "g.94528251C>G" "" "{PMID:Jiang 2016:26780318}" "" "p.G607R" "" "Unknown" "yes" "" "0" "" "" "g.94062695C>G" "" "pathogenic (recessive)" ""
"0000773895" "2" "70" "1" "94528831" "94528831" "subst" "0" "01695" "ABCA4_002103" "g.94528831G>A" "" "{PMID:Jiang 2016:26780318}" "" "p.Q533X" "" "Unknown" "yes" "" "0" "" "" "g.94063275G>A" "" "likely pathogenic (recessive)" ""
"0000773896" "2" "90" "1" "94481411" "94481411" "subst" "0" "01695" "ABCA4_001718" "g.94481411C>T" "" "{PMID:Jiang 2016:26780318}" "" "c.5197-1G>A" "" "Unknown" "yes" "" "0" "" "" "g.94015855C>T" "" "pathogenic (recessive)" ""
"0000773897" "2" "70" "1" "94506867" "94506867" "subst" "0" "01695" "ABCA4_001296" "g.94506867G>C" "" "{PMID:Jiang 2016:26780318}" "" "p.C1140W" "" "Unknown" "yes" "" "0" "" "" "g.94041311G>C" "" "likely pathogenic (recessive)" ""
"0000773898" "1" "70" "1" "94463583" "94463583" "subst" "8.12183E-6" "01695" "ABCA4_000806" "g.94463583A>G" "" "{PMID:Jiang 2016:26780318}" "" "p.F2188S" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.93998027A>G" "" "likely pathogenic (recessive)" ""
"0000773899" "2" "90" "1" "94528251" "94528251" "subst" "0" "01695" "ABCA4_000077" "g.94528251C>G" "" "{PMID:Jiang 2016:26780318}" "" "p.G607R" "" "Unknown" "yes" "" "0" "" "" "g.94062695C>G" "" "pathogenic (recessive)" ""
"0000773900" "2" "50" "1" "94578589" "94578594" "del" "0" "01695" "ABCA4_000249" "g.94578589_94578594del" "" "{PMID:Jiang 2016:26780318}" "" "p.S34-L35del" "" "Unknown" "yes" "" "0" "" "" "g.94113033_94113038del" "" "VUS" ""
"0000773901" "2" "90" "1" "94506941" "94506953" "del" "0" "01695" "ABCA4_001908" "g.94506941_94506953del" "" "{PMID:Jiang 2016:26780318}" "" "p.T1112PfsTer32" "" "Unknown" "yes" "" "0" "" "" "g.94041385_94041397del" "" "pathogenic (recessive)" ""
"0000773902" "3" "50" "1" "94578589" "94578594" "del" "0" "01695" "ABCA4_000249" "g.94578589_94578594del" "" "{PMID:Jiang 2016:26780318}" "" "p.I1074L;p.S34-L35del" "" "Unknown" "yes" "" "0" "" "" "g.94113033_94113038del" "" "VUS" ""
"0000773903" "2" "50" "1" "94471025" "94471025" "subst" "0.00031698" "01695" "ABCA4_000096" "g.94471025C>T" "" "{PMID:Jiang 2016:26780318}" "" "p.R2040Q" "" "Unknown" "yes" "" "0" "" "" "g.94005469C>T" "" "VUS" ""
"0000773904" "2" "70" "1" "94506867" "94506867" "subst" "0" "01695" "ABCA4_001296" "g.94506867G>C" "" "{PMID:Jiang 2016:26780318}" "" "p.C1140W" "" "Unknown" "yes" "" "0" "" "" "g.94041311G>C" "" "likely pathogenic (recessive)" ""
"0000773905" "1" "70" "1" "94471076" "94471076" "subst" "3.24992E-5" "01695" "ABCA4_001628" "g.94471076A>G" "" "{PMID:Jiang 2016:26780318}" "" "p.I2023T;p.Y2036MfsTer25" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94005520A>G" "" "likely pathogenic (recessive)" ""
"0000773906" "2" "90" "1" "94471040" "94471040" "del" "0" "01695" "ABCA4_001623" "g.94471040del" "" "{PMID:Jiang 2016:26780318}" "" "p.I2023T;p.Y2036MfsTer25" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94005484del" "" "pathogenic (recessive)" ""
"0000773907" "2" "70" "1" "94512475" "94512475" "subst" "0" "01695" "ABCA4_001975" "g.94512475A>G" "" "{PMID:Jiang 2016:26780318}" "" "p.L973S" "" "Unknown" "yes" "" "0" "" "" "g.94046919A>G" "" "likely pathogenic (recessive)" ""
"0000773908" "1" "90" "1" "94471026" "94471026" "subst" "1.21925E-5" "01695" "ABCA4_000791" "g.94471026G>A" "" "{PMID:Jiang 2016:26780318}" "" "p.R2040X" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94005470G>A" "" "pathogenic (recessive)" ""
"0000773909" "2" "90" "1" "94471056" "94471056" "subst" "2.84398E-5" "01695" "ABCA4_000050" "g.94471056G>A" "" "{PMID:Jiang 2016:26780318}" "" "p.R2030X" "" "Unknown" "yes" "" "0" "" "" "g.94005500G>A" "" "pathogenic (recessive)" ""
"0000773910" "1" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Jiang 2016:26780318}" "" "p.R602W" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94062710G>A" "" "pathogenic (recessive)" ""
"0000773911" "2" "70" "1" "94466423" "94466423" "subst" "0" "01695" "ABCA4_000818" "g.94466423A>G" "" "{PMID:Jiang 2016:26780318}" "" "p.C2150R" "" "Unknown" "yes" "" "0" "" "" "g.94000867A>G" "" "likely pathogenic (recessive)" ""
"0000773912" "1" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Jiang 2016:26780318}" "" "p.R602W" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94062710G>A" "" "pathogenic (recessive)" ""
"0000773913" "2" "70" "1" "94495032" "94495032" "subst" "0" "01695" "ABCA4_001805" "g.94495032G>A" "" "{PMID:Jiang 2016:26780318}" "" "p.P1503L" "" "Unknown" "yes" "" "0" "" "" "g.94029476G>A" "" "likely pathogenic (recessive)" ""
"0000773914" "2" "70" "1" "94508976" "94508976" "subst" "1.21906E-5" "01695" "ABCA4_000655" "g.94508976C>T" "" "{PMID:Jiang 2016:26780318}" "" "p.E1036K" "" "Unknown" "yes" "" "0" "" "" "g.94043420C>T" "" "likely pathogenic (recessive)" ""
"0000773915" "2" "90" "1" "94546155" "94546155" "subst" "0" "01695" "ABCA4_002149" "g.94546155G>C" "" "{PMID:Jiang 2016:26780318}" "" "p.Y326X" "" "Unknown" "yes" "" "0" "" "" "g.94080599G>C" "" "pathogenic (recessive)" ""
"0000773916" "2" "90" "1" "94485162" "94485162" "subst" "0" "01695" "ABCA4_001419" "g.94485162C>T" "" "{PMID:Jiang 2016:26780318}" "" "p.W1724X" "" "Unknown" "yes" "" "0" "" "" "g.94019606C>T" "" "pathogenic (recessive)" ""
"0000773917" "1" "90" "1" "94528132" "94528132" "subst" "4.06835E-6" "01695" "ABCA4_000773" "g.94528132C>T" "" "{PMID:Jiang 2016:26780318}" "" "c.1937+1G>A" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94062576C>T" "" "pathogenic (recessive)" ""
"0000773918" "2" "70" "1" "94467464" "94467464" "subst" "0" "01695" "ABCA4_001597" "g.94467464T>C" "" "{PMID:Jiang 2016:26780318}" "" "p.K2078E" "" "Unknown" "yes" "" "0" "" "" "g.94001908T>C" "" "likely pathogenic (recessive)" ""
"0000773919" "1" "70" "1" "94486946" "94486946" "subst" "0" "01695" "ABCA4_001747" "g.94486946C>A" "" "{PMID:Jiang 2016:26780318}" "" "p.G1623V" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94021390C>A" "" "likely pathogenic (recessive)" ""
"0000773920" "1" "90" "1" "94510300" "94510301" "ins" "0" "01695" "ABCA4_001972" "g.94510300_94510301insTGTGTTTGGCC" "" "{PMID:Jiang 2016:26780318}" "" "p.S974AfsTer7" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94044744_94044745insTGTGTTTGGCC" "" "pathogenic (recessive)" ""
"0000773921" "1" "70" "1" "94480232" "94480232" "subst" "0" "01695" "ABCA4_000444" "g.94480232G>A" "" "{PMID:Jiang 2016:26780318}" "" "p.P1776L" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94014676G>A" "" "likely pathogenic (recessive)" ""
"0000773922" "2" "70" "1" "94473266" "94473266" "subst" "8.14677E-6" "01695" "ABCA4_000389" "g.94473266C>T" "" "{PMID:Jiang 2016:26780318}" "" "p.G1977S" "" "Unknown" "yes" "" "0" "" "" "g.94007710C>T" "" "likely pathogenic (recessive)" ""
"0000773923" "0" "70" "1" "94528780" "94528780" "subst" "4.06171E-6" "01695" "ABCA4_000299" "g.94528780C>T" "" "{PMID:Jiang 2016:26780318}" "" "p.C519R;p.G550R" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94063224C>T" "" "likely pathogenic (recessive)" ""
"0000773924" "1" "70" "1" "94471094" "94471094" "subst" "0" "01695" "ABCA4_001629" "g.94471094C>T" "" "{PMID:Jiang 2016:26780318}" "" "p.C2017Y" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94005538C>T" "" "likely pathogenic (recessive)" ""
"0000773925" "2" "90" "1" "94510300" "94510301" "ins" "0" "01695" "ABCA4_001972" "g.94510300_94510301insTGTGTTTGGCC" "" "{PMID:Jiang 2016:26780318}" "" "p.S974AfsTer7" "" "Unknown" "yes" "" "0" "" "" "g.94044744_94044745insTGTGTTTGGCC" "" "pathogenic (recessive)" ""
"0000773926" "2" "90" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Jiang 2016:26780318}" "" "p.N965S" "" "Unknown" "yes" "" "0" "" "" "g.94046943T>C" "" "pathogenic (recessive)" ""
"0000773927" "1" "90" "1" "94485137" "94485137" "subst" "0" "01695" "ABCA4_000464" "g.94485137C>T" "" "{PMID:Jiang 2016:26780318}" "" "c.5196+1G>A" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94019581C>T" "" "pathogenic (recessive)" ""
"0000773928" "1" "70" "1" "94508976" "94508976" "subst" "1.21906E-5" "01695" "ABCA4_000655" "g.94508976C>T" "" "{PMID:Jiang 2016:26780318}" "" "p.E328V;p.E1036K" "" "Unknown" "yes" "" "0" "" "" "g.94043420C>T" "" "likely pathogenic (recessive)" ""
"0000773929" "2" "70" "1" "94528831" "94528831" "subst" "0" "01695" "ABCA4_002103" "g.94528831G>A" "" "{PMID:Jiang 2016:26780318}" "" "p.Q533X" "" "Unknown" "yes" "" "0" "" "" "g.94063275G>A" "" "likely pathogenic (recessive)" ""
"0000773930" "2" "90" "1" "94471026" "94471026" "subst" "1.21925E-5" "01695" "ABCA4_000791" "g.94471026G>A" "" "{PMID:Jiang 2016:26780318}" "" "p.R2040X" "" "Unknown" "yes" "" "0" "" "" "g.94005470G>A" "" "pathogenic (recessive)" ""
"0000773931" "2" "70" "1" "94497349" "94497349" "subst" "0" "01695" "ABCA4_001849" "g.94497349C>A" "" "{PMID:Jiang 2016:26780318}" "" "p.K1371N" "" "Unknown" "yes" "" "0" "" "" "g.94031793C>A" "" "likely pathogenic (recessive)" ""
"0000773932" "2" "90" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Jiang 2016:26780318}" "" "p.N965S" "" "Unknown" "yes" "" "0" "" "" "g.94046943T>C" "" "pathogenic (recessive)" ""
"0000773933" "1" "70" "1" "94471032" "94471032" "subst" "1.62553E-5" "01695" "ABCA4_000792" "g.94471032G>A" "" "{PMID:Jiang 2016:26780318}" "" "p.Y603;Cp.R2038W" "no variant 2nd chromosome" "Unknown" "yes" "" "0" "" "" "g.94005476G>A" "" "likely pathogenic (recessive)" ""
"0000773934" "2" "70" "1" "94480241" "94480241" "subst" "7.71705E-5" "01695" "ABCA4_000446" "g.94480241G>A" "" "{PMID:Jiang 2016:26780318}" "" "p.A1773V" "" "Unknown" "yes" "" "0" "" "" "g.94014685G>A" "" "likely pathogenic (recessive)" ""
"0000773935" "2" "50" "1" "94497360" "94497360" "subst" "4.0949E-6" "01695" "ABCA4_000575" "g.94497360G>A" "" "{PMID:Jiang 2016:26780318}" "" "p.R1368C" "" "Unknown" "yes" "" "0" "" "" "g.94031804G>A" "" "VUS" ""
"0000773936" "2" "90" "1" "94471056" "94471056" "subst" "2.84398E-5" "01695" "ABCA4_000050" "g.94471056G>A" "" "{PMID:Jiang 2016:26780318}" "" "p.R2030X" "" "Unknown" "yes" "" "0" "" "" "g.94005500G>A" "" "pathogenic (recessive)" ""
"0000773937" "1" "90" "1" "94508366" "94508366" "del" "0" "01695" "ABCA4_001928" "g.94508366del" "" "{PMID:Jiang 2016:26780318}" "" "p.P1094LfsTer13" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94042810del" "" "pathogenic (recessive)" ""
"0000773938" "2" "90" "1" "94520830" "94520830" "subst" "0" "01695" "ABCA4_000727" "g.94520830G>C" "" "{PMID:Jiang 2016:26780318}" "" "p.Y808X" "" "Unknown" "yes" "" "0" "" "" "g.94055274G>C" "" "pathogenic (recessive)" ""
"0000773939" "1" "70" "1" "94578638" "94578638" "subst" "0" "01695" "ABCA4_002245" "g.94578638A>T" "" "{PMID:Jiang 2016:26780318}" "" "c.67-16T>A" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94113082A>T" "" "likely pathogenic (recessive)" ""
"0000773940" "2" "70" "1" "94476424" "94476424" "subst" "2.43694E-5" "01695" "ABCA4_000418" "g.94476424C>T" "" "{PMID:Jiang 2016:26780318}" "" "p.M1882I" "" "Unknown" "yes" "" "0" "" "" "g.94010868C>T" "" "likely pathogenic (recessive)" ""
"0000773941" "1" "90" "1" "94546116" "94546116" "subst" "0" "01695" "ABCA4_001319" "g.94546116C>T" "" "{PMID:Jiang 2016:26780318}" "" "p.S320C;p.W339X" "" "Unknown" "yes" "" "0" "" "" "g.94080560C>T" "" "pathogenic (recessive)" ""
"0000773942" "2" "70" "1" "94546150" "94546150" "subst" "4.06828E-6" "01695" "ABCA4_000346" "g.94546150T>A" "" "{PMID:Jiang 2016:26780318}" "" "p.E328V;p.E1036K" "" "Unknown" "yes" "" "0" "" "" "g.94080594T>A" "" "likely pathogenic (recessive)" ""
"0000773943" "2" "70" "1" "94508976" "94508976" "subst" "1.21906E-5" "01695" "ABCA4_000655" "g.94508976C>T" "" "{PMID:Jiang 2016:26780318}" "" "p.E328V;p.E1036K" "" "Unknown" "yes" "" "0" "" "" "g.94043420C>T" "" "likely pathogenic (recessive)" ""
"0000773944" "2" "90" "1" "94574256" "94574256" "subst" "2.8425E-5" "01695" "ABCA4_000040" "g.94574256G>A" "" "{PMID:Jiang 2016:26780318}" "" "p.R107X" "" "Unknown" "yes" "" "0" "" "" "g.94108700G>A" "" "pathogenic (recessive)" ""
"0000773945" "1" "70" "1" "94471017" "94471017" "subst" "8.12836E-6" "01695" "ABCA4_001618" "g.94471017G>A" "" "{PMID:Jiang 2016:26780318}" "" "p.R511C;p.P2043S" "" "Unknown" "yes" "" "0" "" "" "g.94005461G>A" "" "likely pathogenic (recessive)" ""
"0000773946" "2" "90" "1" "94528311" "94528311" "subst" "0" "01695" "ABCA4_001138" "g.94528311T>C" "" "{PMID:Jiang 2016:26780318}" "" "c.1761-2A>G" "" "Unknown" "yes" "" "0" "" "" "g.94062755T>C" "" "pathogenic (recessive)" ""
"0000773947" "2" "90" "1" "94564466" "94564466" "subst" "0" "01695" "ABCA4_002185" "g.94564466G>A" "" "{PMID:Jiang 2016:26780318}" "" "p.Q218X" "" "Unknown" "yes" "" "0" "" "" "g.94098910G>A" "" "pathogenic (recessive)" ""
"0000773948" "2" "70" "1" "94528164" "94528164" "subst" "0" "01695" "ABCA4_001311" "g.94528164G>T" "" "{PMID:Jiang 2016:26780318}" "" "p.Q636K;p.W1479X;p.P1503L" "" "Unknown" "yes" "" "0" "" "" "g.94062608G>T" "" "likely pathogenic (recessive)" ""
"0000773949" "2" "90" "1" "94495104" "94495104" "subst" "0" "01695" "ABCA4_001216" "g.94495104C>T" "" "{PMID:Jiang 2016:26780318}" "" "p.Q636K;p.W1479X;p.P1503L" "" "Unknown" "yes" "" "0" "" "" "g.94029548C>T" "" "pathogenic (recessive)" ""
"0000773950" "2" "70" "1" "94495032" "94495032" "subst" "0" "01695" "ABCA4_001805" "g.94495032G>A" "" "{PMID:Jiang 2016:26780318}" "" "p.Q636K;p.W1479X;p.P1503L" "" "Unknown" "yes" "" "0" "" "" "g.94029476G>A" "" "likely pathogenic (recessive)" ""
"0000773951" "1" "70" "1" "94528831" "94528831" "subst" "0" "01695" "ABCA4_002103" "g.94528831G>A" "" "{PMID:Jiang 2016:26780318}" "" "p.Q533X" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94063275G>A" "" "likely pathogenic (recessive)" ""
"0000773952" "2" "70" "1" "94546261" "94546261" "subst" "0.000648567" "01695" "ABCA4_000353" "g.94546261G>A" "" "{PMID:Jiang 2016:26780318}" "" "p.P291L;c.6006-1G>A" "" "Unknown" "yes" "" "0" "" "" "g.94080705G>A" "" "likely pathogenic (recessive)" ""
"0000773953" "2" "90" "1" "94471139" "94471139" "subst" "0" "01695" "ABCA4_001372" "g.94471139C>T" "" "{PMID:Jiang 2016:26780318}" "" "p.P291L;c.6006-1G>A" "" "Unknown" "yes" "" "0" "" "" "g.94005583C>T" "" "pathogenic (recessive)" ""
"0000773954" "2" "70" "1" "94526271" "94526271" "subst" "0" "01695" "ABCA4_001309" "g.94526271A>C" "" "{PMID:Jiang 2016:26780318}" "" "p.L661R" "" "Unknown" "yes" "" "0" "" "" "g.94060715A>C" "" "likely pathogenic (recessive)" ""
"0000773955" "1" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Birtel 2018:29555955}" "" "p.Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000773956" "1" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Birtel 2018:29555955}" "" "p.Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000773957" "1" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Birtel 2018:29555955}" "" "p.Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000773958" "2" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Birtel 2018:29555955}" "" "p.Asn1868Ile" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000773959" "0" "50" "1" "94487354" "94487354" "subst" "0.584631" "01695" "ABCA4_000897" "g.94487354G>A" "" "{PMID:Birtel 2018:29555955}" "" "p.(?)" "" "Unknown" "" "" "0" "" "" "g.94021798G>A" "" "VUS" ""
"0000773960" "0" "50" "1" "94476388" "94476388" "subst" "0.215397" "01695" "ABCA4_000890" "g.94476388C>G" "" "{PMID:Birtel 2018:29555955}" "" "p.Leu1894Leu" "" "Unknown" "" "" "0" "" "" "g.94010832C>G" "" "VUS" ""
"0000773961" "1" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Birtel 2018:29555955}" "" "p.Gly863Ala" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000773962" "1" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Birtel 2018:29555955}" "" "p.Asn1868Ile" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000773963" "0" "70" "1" "94528713" "94528713" "subst" "4.87381E-5" "01695" "ABCA4_000072" "g.94528713C>T" "" "{PMID:Birtel 2018:29555955}" "" "p.Arg572Gln" "" "Unknown" "" "" "0" "" "" "g.94063157C>T" "" "likely pathogenic (recessive)" ""
"0000773964" "1" "90" "1" "94517254" "94517254" "subst" "4.06478E-6" "01695" "ABCA4_000158" "g.94517254C>T" "" "{PMID:Birtel 2018:29555955}" "" "p.Gly863Ala" "" "Unknown" "" "" "0" "" "" "g.94051698C>T" "" "pathogenic (recessive)" ""
"0000773965" "1" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Birtel 2018:29555955}" "" "p.Asn1868Ile" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000773966" "1" "70" "1" "94476853" "94476853" "subst" "4.06243E-6" "01695" "ABCA4_000429" "g.94476853A>G" "" "{PMID:Birtel 2018:29555955}" "" "p.Leu1850Pro" "" "Unknown" "" "" "0" "" "" "g.94011297A>G" "" "likely pathogenic (recessive)" ""
"0000773967" "0" "50" "1" "94487404" "94487404" "subst" "0.00244055" "01695" "ABCA4_000497" "g.94487404C>T" "" "{PMID:Birtel 2018:29555955}" "" "p.Gly1591Arg" "" "Unknown" "" "" "0" "" "" "g.94021848C>T" "" "VUS" ""
"0000773968" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Birtel 2018:29555955}" "" "p.Leu541Pro" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000773969" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Birtel 2018:29555955}" "" "p.Ala1038Val" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000773970" "1" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Birtel 2018:29555955}" "" "p.Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000773971" "1" "90" "1" "94496571" "94496571" "subst" "4.06174E-6" "01695" "ABCA4_000111" "g.94496571G>A" "" "{PMID:Birtel 2018:29555955}" "" "p.Gln1412*" "" "Unknown" "" "" "0" "" "" "g.94031015G>A" "" "pathogenic (recessive)" ""
"0000773972" "1" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Birtel 2018:29555955}" "" "p.Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000773973" "1" "70" "1" "94486941" "94486941" "subst" "0" "01695" "ABCA4_001420" "g.94486941G>A" "" "{PMID:Birtel 2018:29555955}" "" "p.His1625Tyr" "" "Unknown" "" "" "0" "" "" "g.94021385G>A" "" "likely pathogenic (recessive)" ""
"0000773974" "1" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Birtel 2018:29555955}" "" "p.Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000773975" "0" "50" "1" "94564462" "94564462" "subst" "4.06775E-5" "01695" "ABCA4_000380" "g.94564462C>G" "" "{PMID:Birtel 2018:29555955}" "" "p.Arg219Thr" "" "Unknown" "" "" "0" "" "" "g.94098906C>G" "" "VUS" ""
"0000773976" "1" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Birtel 2018:29555955}" "" "p.Gly863Ala" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000773977" "1" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Birtel 2018:29555955}" "" "p.Asn1868Ile" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000773978" "1" "90" "1" "94496571" "94496571" "subst" "4.06174E-6" "01695" "ABCA4_000111" "g.94496571G>A" "" "{PMID:Birtel 2018:29555955}" "" "p.Gln1412*" "" "Unknown" "" "" "0" "" "" "g.94031015G>A" "" "pathogenic (recessive)" ""
"0000773979" "1" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Birtel 2018:29555955}" "" "p.Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000773980" "1" "50" "1" "94476377" "94476377" "subst" "0.00160473" "01695" "ABCA4_000411" "g.94476377C>T" "" "{PMID:Birtel 2018:29555955}" "" "p.Arg1898His" "" "Unknown" "" "" "0" "" "" "g.94010821C>T" "" "VUS" ""
"0000773981" "1" "90" "1" "94473278" "94473278" "del" "3.25908E-5" "01695" "ABCA4_000392" "g.94473278del" "" "{PMID:Birtel 2018:29555955}" "" "p.Val1973*" "" "Unknown" "" "" "0" "" "" "g.94007722del" "" "pathogenic (recessive)" ""
"0000773982" "0" "50" "1" "94496039" "94496039" "subst" "0.00157963" "01695" "ABCA4_000552" "g.94496039C>T" "" "{PMID:Birtel 2018:29555955}" "" "p.Val1433Ile" "" "Unknown" "" "" "0" "" "" "g.94030483C>T" "" "VUS" ""
"0000773983" "2" "70" "1" "94466618" "94466618" "subst" "0" "01695" "ABCA4_001415" "g.94466618A>G" "" "{PMID:Birtel 2018:29555955}" "" "p.Leu2109Pro" "" "Unknown" "" "" "0" "" "" "g.94001062A>G" "" "likely pathogenic (recessive)" ""
"0000773984" "1" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Birtel 2018:29555955}" "" "p.Asn1868Ile" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000773985" "1" "70" "1" "94473266" "94473266" "subst" "8.14677E-6" "01695" "ABCA4_000389" "g.94473266C>T" "" "{PMID:Birtel 2018:29555955}" "" "p.Gly1977Ser" "" "Unknown" "" "" "0" "" "" "g.94007710C>T" "" "likely pathogenic (recessive)" ""
"0000773988" "1" "90" "1" "94586557" "94586557" "subst" "4.06134E-6" "01695" "ABCA4_000259" "g.94586557C>T" "" "{PMID:Birtel 2018:29555955}" "" "p.Trp15*" "" "Unknown" "" "" "0" "" "" "g.94121001C>T" "" "pathogenic (recessive)" ""
"0000773989" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Birtel 2018:29555955}" "" "p.Asn1868Ile" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000773990" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Birtel 2018:29555955}" "" "p.Leu541Pro" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000773991" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Birtel 2018:29555955}" "" "p.Ala1038Val" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000773992" "3" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Birtel 2018:29555955}" "" "p.Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000773993" "1" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Birtel 2018:29555955}" "" "p.Gly863Ala" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000773994" "1" "90" "1" "94528167" "94528167" "subst" "0" "01695" "ABCA4_000268" "g.94528167G>A" "" "{PMID:Birtel 2018:29555955}" "" "p.Gln635*" "" "Unknown" "" "" "0" "" "" "g.94062611G>A" "" "pathogenic (recessive)" ""
"0000773995" "1" "70" "1" "94522239" "94522239" "subst" "2.03305E-5" "01695" "ABCA4_000736" "g.94522239A>T" "" "{PMID:Birtel 2018:29555955}" "" "p.Val767Asp" "" "Unknown" "" "" "0" "" "" "g.94056683A>T" "" "likely pathogenic (recessive)" ""
"0000773996" "1" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Birtel 2018:29555955}" "" "p.(?)" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000773997" "1" "90" "1" "94473278" "94473278" "del" "3.25908E-5" "01695" "ABCA4_000392" "g.94473278del" "" "{PMID:Birtel 2018:29555955}" "" "p.Val1973*" "" "Unknown" "" "" "0" "" "" "g.94007722del" "" "pathogenic (recessive)" ""
"0000773998" "1" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Birtel 2018:29555955}" "" "p.Asn1868Ile" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000773999" "0" "70" "1" "94473266" "94473266" "subst" "8.14677E-6" "01695" "ABCA4_000389" "g.94473266C>T" "" "{PMID:Birtel 2018:29555955}" "" "p.Gly1977Ser" "" "Unknown" "" "" "0" "" "" "g.94007710C>T" "" "likely pathogenic (recessive)" ""
"0000774000" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Birtel 2018:29555955}" "" "p.Leu2027Phe" "" "Unknown" "" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic (recessive)" ""
"0000774001" "1" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Birtel 2018:29555955}{PMID:Müller 2020:31917732}" "" "p.Asn1868Ile" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000774002" "1" "70" "1" "94495989" "94495989" "subst" "8.12229E-6" "01695" "ABCA4_001090" "g.94495989C>A" "" "{PMID:Birtel 2018:29555955}" "" "p.Trp1449Cys" "" "Unknown" "" "" "0" "" "" "g.94030433C>A" "" "likely pathogenic (recessive)" ""
"0000774003" "1" "90" "1" "94528844" "94528844" "subst" "0" "01695" "ABCA4_001435" "g.94528844G>T" "" "{PMID:Birtel 2018:29555955}" "" "p.Tyr528*" "" "Unknown" "" "" "0" "" "" "g.94063288G>T" "" "pathogenic (recessive)" ""
"0000774004" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Birtel 2018:29555955}" "" "p.Ala1038Val" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000774005" "1" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Birtel 2018:29555955}" "" "p.Gly863Ala" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000774006" "1" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Birtel 2018:29555955}" "" "p.Asn1868Ile" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000774007" "1" "90" "1" "94528132" "94528132" "subst" "4.06835E-6" "01695" "ABCA4_000773" "g.94528132C>T" "" "{PMID:Birtel 2018:29555955}" "" "p.(?)" "" "Unknown" "" "" "0" "" "" "g.94062576C>T" "" "pathogenic (recessive)" ""
"0000774008" "0" "70" "1" "94546124" "94546124" "subst" "0" "01695" "ABCA4_000342" "g.94546124A>G" "" "{PMID:Birtel 2018:29555955}" "" "p.Phe337Leu" "" "Unknown" "" "" "0" "" "" "g.94080568A>G" "" "likely pathogenic (recessive)" ""
"0000774009" "1" "70" "1" "94485275" "94485275" "subst" "4.09068E-5" "01695" "ABCA4_001089" "g.94485275T>A" "" "{PMID:Birtel 2018:29555955}" "" "p.Ile1687Phe" "" "Unknown" "" "" "0" "" "" "g.94019719T>A" "" "likely pathogenic (recessive)" ""
"0000774010" "1" "70" "1" "94508402" "94508402" "subst" "0" "01695" "ABCA4_001427" "g.94508402C>A" "" "{PMID:Birtel 2018:29555955}" "" "p.Lys1081Asn" "" "Unknown" "" "" "0" "" "" "g.94042846C>A" "" "likely pathogenic (recessive)" ""
"0000774011" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Birtel 2018:29555955}" "" "p.Leu541Pro" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000774012" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Birtel 2018:29555955}" "" "p.Ala1038Val" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000774013" "1" "90" "1" "94485136" "94485136" "subst" "0" "01695" "ABCA4_000189" "g.94485136A>G" "" "{PMID:Birtel 2018:29555955}" "" "p.(?)" "" "Unknown" "" "" "0" "" "" "g.94019580A>G" "" "pathogenic (recessive)" ""
"0000774014" "1" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Birtel 2018:29555955}" "" "p.Arg1129Leu" "" "Unknown" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000774015" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Birtel 2018:29555955}" "" "p.Leu541Pro" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000774016" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Birtel 2018:29555955}" "" "p.Ala1038Val" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000774017" "1" "90" "1" "94466452" "94466452" "subst" "0" "01695" "ABCA4_000823" "g.94466452A>C" "" "{PMID:Birtel 2018:29555955}{PMID:Müller 2020:32891696}{PMID:Müller 2020:32751377}" "" "p.Leu2140Arg" "" "Unknown" "" "" "0" "" "" "g.94000896A>C" "" "pathogenic (recessive)" ""
"0000774018" "1" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Birtel 2018:29555955}" "" "p.Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000774021" "1" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Birtel 2018:29555955}" "" "p.Gly863Ala" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000774022" "1" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Birtel 2018:29555955}" "" "p.Asn1868Ile" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000774023" "1" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Birtel 2018:29555955}" "" "p.Asn1868Ile" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000774024" "2" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Birtel 2018:29555955}" "" "p.(?)" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000774025" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Birtel 2018:29555955}" "" "p.Ala1038Val" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000774026" "1" "70" "1" "94528179" "94528179" "subst" "0" "01695" "ABCA4_001433" "g.94528179C>T" "" "{PMID:Birtel 2018:29555955}" "" "p.Gly631Arg" "" "Unknown" "" "" "0" "" "" "g.94062623C>T" "" "likely pathogenic (recessive)" ""
"0000774027" "1" "70" "1" "94463568" "94463603" "del" "0" "01695" "ABCA4_000805" "g.94463568_94463603del" "" "{PMID:Birtel 2018:29555955}" "" "p.Leu2184_Phe2193del" "" "Unknown" "" "" "0" "" "" "g.93998012_93998047del" "" "likely pathogenic (recessive)" ""
"0000774028" "1" "70" "1" "94495078" "94495078" "subst" "8.37044E-6" "01695" "ABCA4_000042" "g.94495078A>G" "" "{PMID:Birtel 2018:29555955}" "" "p.Cys1488Arg" "" "Unknown" "" "" "0" "" "" "g.94029522A>G" "" "likely pathogenic (recessive)" ""
"0000774029" "1" "90" "1" "94508384" "94508384" "subst" "0" "01695" "ABCA4_000641" "g.94508384T>G" "" "{PMID:Birtel 2018:29555955}" "" "p.Glu1087Asp" "" "Unknown" "" "" "0" "" "" "g.94042828T>G" "" "pathogenic (recessive)" ""
"0000774030" "1" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Birtel 2018:29555955}" "" "p.Asn1868Ile" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000774031" "1" "90" "1" "94473278" "94473278" "del" "3.25908E-5" "01695" "ABCA4_000392" "g.94473278del" "" "{PMID:Birtel 2018:29555955}" "" "p.Val1973*" "" "Unknown" "" "" "0" "" "" "g.94007722del" "" "pathogenic (recessive)" ""
"0000774032" "1" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Birtel 2018:29555955}" "" "p.Gly863Ala" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000774033" "3" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Birtel 2018:29555955}" "" "p.Asn1868Ile" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000774034" "0" "70" "1" "94546261" "94546261" "subst" "0.000648567" "01695" "ABCA4_000353" "g.94546261G>A" "" "{PMID:Birtel 2018:29555955}" "" "p.Pro291Leu" "" "Unknown" "" "" "0" "" "" "g.94080705G>A" "" "likely pathogenic (recessive)" ""
"0000774035" "2" "90" "1" "94466638" "94466638" "dup" "0" "01695" "ABCA4_001416" "g.94466638dup" "" "{PMID:Birtel 2018:29555955}" "" "p.Gln2104Profs*31" "" "Unknown" "" "" "0" "" "" "g.94001082dup" "" "pathogenic (recessive)" ""
"0000774036" "1" "70" "1" "94543277" "94543277" "subst" "0" "01695" "ABCA4_001042" "g.94543277C>G" "" "{PMID:Birtel 2018:29555955}" "" "p.Arg508Pro" "" "Unknown" "" "" "0" "" "" "g.94077721C>G" "" "likely pathogenic (recessive)" ""
"0000774037" "3" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Birtel 2018:29555955}" "" "p.Asn1868Ile" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000774038" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Birtel 2018:29555955}" "" "p.Leu541Pro" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000774039" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Birtel 2018:29555955}" "" "p.Ala1038Val" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000774040" "1" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Birtel 2018:29555955}" "" "p.Asn1868Ile" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000774041" "0" "50" "1" "94487404" "94487404" "subst" "0.00244055" "01695" "ABCA4_000497" "g.94487404C>T" "" "{PMID:Birtel 2018:29555955}" "" "p.Gly1591Arg" "" "Unknown" "" "" "0" "" "" "g.94021848C>T" "" "VUS" ""
"0000774042" "1" "90" "1" "94496571" "94496571" "subst" "4.06174E-6" "01695" "ABCA4_000111" "g.94496571G>A" "" "{PMID:Birtel 2018:29555955}" "" "p.Gln1412*" "" "Unknown" "" "" "0" "" "" "g.94031015G>A" "" "pathogenic (recessive)" ""
"0000774043" "0" "70" "1" "94495077" "94495077" "subst" "0" "01695" "ABCA4_000184" "g.94495077C>T" "" "{PMID:Birtel 2018:29555955}" "" "p.Cys1488Tyr" "" "Unknown" "" "" "0" "" "" "g.94029521C>T" "" "likely pathogenic (recessive)" ""
"0000774044" "2" "50" "1" "94467548" "94467548" "subst" "0.00295661" "01695" "ABCA4_000788" "g.94467548C>G" "" "{PMID:Birtel 2018:29555955}" "" "p.Val2050Leu" "" "Unknown" "" "" "0" "" "" "g.94001992C>G" "" "VUS" ""
"0000774045" "0" "50" "1" "94467548" "94467548" "subst" "0.00295661" "01695" "ABCA4_000788" "g.94467548C>G" "" "{PMID:Birtel 2018:29555955}" "" "p.Val2050Leu" "" "Unknown" "" "" "0" "" "" "g.94001992C>G" "" "VUS" ""
"0000774046" "2" "90" "1" "94568687" "94568687" "subst" "1.62641E-5" "01695" "ABCA4_000024" "g.94568687G>A" "" "{PMID:Birtel 2018:29555955}" "" "p.Arg152*" "" "Unknown" "" "" "0" "" "" "g.94103131G>A" "" "pathogenic (recessive)" ""
"0000774047" "1" "70" "1" "94480178" "94480178" "subst" "2.43692E-5" "01695" "ABCA4_000005" "g.94480178G>T" "" "{PMID:Birtel 2018:29555955}" "" "p.Ala1794Asp" "" "Unknown" "" "" "0" "" "" "g.94014622G>T" "" "likely pathogenic (recessive)" ""
"0000774048" "1" "70" "1" "94467467" "94467467" "subst" "4.06164E-6" "01695" "ABCA4_000780" "g.94467467G>A" "" "{PMID:Birtel 2018:29555955}" "" "p.Arg2077Trp" "" "Unknown" "" "" "0" "" "" "g.94001911G>A" "" "likely pathogenic (recessive)" ""
"0000774049" "1" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Birtel 2018:29555955}" "" "p.Asn1868Ile" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000774050" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Birtel 2018:29555955}" "" "p.Leu541Pro" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000774051" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Birtel 2018:29555955}" "" "p.Ala1038Val" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000774052" "0" "10" "1" "94544234" "94544234" "subst" "0.255245" "01695" "ABCA4_000322" "g.94544234T>C" "" "{PMID:Birtel 2018:29555955}" "" "p.His423Arg" "" "Unknown" "" "" "0" "" "" "g.94078678T>C" "" "benign" ""
"0000774053" "2" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Birtel 2018:29555955}" "" "p.Asn1868Ile" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000774054" "1" "70" "1" "94463399" "94463413" "del" "0" "01695" "ABCA4_000851" "g.94463399_94463413del" "" "{PMID:Birtel 2018:29555955}" "" "c.6729+19del13" "" "Unknown" "" "" "0" "" "" "g.93997843_93997857del" "" "likely pathogenic (recessive)" ""
"0000774055" "3" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Birtel 2018:29555955}" "" "p.Asn1868Ile" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000774056" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Birtel 2018:29555955}" "" "p.Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000774057" "1" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Birtel 2018:29555955}" "" "p.(?)" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000774058" "1" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Birtel 2018:29555955}" "" "p.Asn1868Ile" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000774059" "0" "50" "1" "94487490" "94487490" "subst" "0.00122268" "01695" "ABCA4_000506" "g.94487490A>G" "" "{PMID:Birtel 2018:29555955}" "" "p.Ile1562Thr" "" "Unknown" "" "" "0" "" "" "g.94021934A>G" "" "VUS" ""
"0000774060" "1" "90" "1" "94495082" "94495082" "del" "0" "01695" "ABCA4_001423" "g.94495082del" "" "{PMID:Birtel 2018:29555955}" "" "p.Ser1487Profs*39" "" "Unknown" "" "" "0" "" "" "g.94029526del" "" "pathogenic (recessive)" ""
"0000774061" "1" "70" "1" "94480230" "94480230" "subst" "6.09177E-5" "01695" "ABCA4_001053" "g.94480230T>A" "" "{PMID:Birtel 2018:29555955}" "" "p.[Asn1868Ile;Met1777Leu]" "" "Unknown" "" "" "0" "" "" "g.94014674T>A" "" "likely pathogenic (recessive)" ""
"0000774062" "1" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Birtel 2018:29555955}" "" "p.[Asn1868Ile;Met1777Leu]" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000774063" "2" "70" "1" "94543269" "94543269" "subst" "0.000179087" "01695" "ABCA4_000307" "g.94543269G>A" "" "{PMID:Birtel 2018:29555955}" "" "p.Arg511Cys" "" "Unknown" "" "" "0" "" "" "g.94077713G>A" "" "likely pathogenic (recessive)" ""
"0000774064" "0" "70" "1" "94506805" "94506805" "subst" "2.03051E-5" "01695" "ABCA4_001294" "g.94506805C>T" "" "{PMID:Birtel 2018:29555955}" "" "p.Arg1161His" "" "Unknown" "" "" "0" "" "" "g.94041249C>T" "" "likely pathogenic (recessive)" ""
"0000774065" "1" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Birtel 2018:29555955}" "" "p.(?)" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000774066" "3" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Birtel 2018:29555955}" "" "p.Asn1868Ile" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000774067" "2" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Birtel 2018:29555955}" "" "p.Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000774068" "0" "70" "1" "94564424" "94564424" "subst" "5.6868E-5" "01695" "ABCA4_001440" "g.94564424G>A" "" "{PMID:Birtel 2018:29555955}" "" "p.Leu232Phe" "" "Unknown" "" "" "0" "" "" "g.94098868G>A" "" "likely pathogenic (recessive)" ""
"0000774069" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Birtel 2018:29555955}" "" "p.Asn1868Ile" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000774070" "1" "90" "1" "94508997" "94508997" "subst" "0" "01695" "ABCA4_000112" "g.94508997G>A" "" "{PMID:Birtel 2018:29555955}" "" "p.Gln1029*" "" "Unknown" "" "" "0" "" "" "g.94043441G>A" "" "pathogenic (recessive)" ""
"0000774071" "1" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Birtel 2018:29555955}" "" "p.Gly863Ala" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000774072" "1" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Birtel 2018:29555955}" "" "p.Asn1868Ile" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000774073" "1" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Birtel 2018:29555955}" "" "p.Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000774074" "1" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Birtel 2018:29555955}" "" "p.Asn1868Ile" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000774075" "1" "70" "1" "94476425" "94476425" "subst" "8.12282E-6" "01695" "ABCA4_000419" "g.94476425A>G" "" "{PMID:Birtel 2018:29555955}" "" "p.Met1882Thr" "" "Unknown" "" "" "0" "" "" "g.94010869A>G" "" "likely pathogenic (recessive)" ""
"0000774076" "1" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Birtel 2018:29555955}" "" "p.Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000774077" "1" "50" "1" "94528142" "94528142" "subst" "0.00153303" "01695" "ABCA4_000125" "g.94528142A>C" "" "{PMID:Birtel 2018:29555955}" "" "p.Val643Gly" "" "Unknown" "" "" "0" "" "" "g.94062586A>C" "" "VUS" ""
"0000774078" "1" "70" "1" "94480230" "94480230" "subst" "6.09177E-5" "01695" "ABCA4_001053" "g.94480230T>A" "" "{PMID:Birtel 2018:29555955}" "" "p.[Asn1868Ile;Met1777Leu]" "" "Unknown" "" "" "0" "" "" "g.94014674T>A" "" "likely pathogenic (recessive)" ""
"0000774079" "1" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Birtel 2018:29555955}" "" "p.[Asn1868Ile;Met1777Leu]" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000774080" "2" "70" "1" "94484001" "94484001" "subst" "0" "01695" "ABCA4_000016" "g.94484001C>T" "" "{PMID:Birtel 2018:29555955}" "" "p.(?)" "" "Unknown" "" "" "0" "" "" "g.94018445C>T" "" "likely pathogenic (recessive)" ""
"0000774081" "1" "70" "1" "94480230" "94480230" "subst" "6.09177E-5" "01695" "ABCA4_001053" "g.94480230T>A" "" "{PMID:Birtel 2018:29555955}" "" "p.[Asn1868Ile;Met1777Leu]" "" "Unknown" "" "" "0" "" "" "g.94014674T>A" "" "likely pathogenic (recessive)" ""
"0000774082" "1" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Birtel 2018:29555955}" "" "p.[Asn1868Ile;Met1777Leu]" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000774083" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Birtel 2018:29555955}" "" "p.Ala1038Val" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000774084" "1" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Birtel 2018:29555955}" "" "p.Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000774085" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Birtel 2018:29555955}" "" "p.Ala1038Val" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000774086" "1" "90" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Birtel 2018:29555955}" "" "p.Arg2107His" "" "Unknown" "" "" "0" "" "" "g.94001068C>T" "" "pathogenic (recessive)" ""
"0000774087" "1" "90" "1" "94471026" "94471026" "subst" "1.21925E-5" "01695" "ABCA4_000791" "g.94471026G>A" "" "{PMID:Birtel 2018:29555955}" "" "p.Arg2040*" "" "Unknown" "" "" "0" "" "" "g.94005470G>A" "" "pathogenic (recessive)" ""
"0000774088" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Birtel 2018:29555955}" "" "p.Ala1038Val" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000774089" "1" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Birtel 2018:29555955}" "" "p.Gly863Ala" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000774090" "1" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Birtel 2018:29555955}" "" "p.Asn1868Ile" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000774091" "1" "70" "1" "94508993" "94508993" "subst" "0" "01695" "ABCA4_001954" "g.94508993A>T" "" "{PMID:Sodi 2016:26743751}" "" "(p.Leu1030Gln)" "" "Unknown" "" "" "0" "" "" "g.94043437A>T" "" "likely pathogenic (recessive)" ""
"0000774092" "1" "90" "1" "94546097" "94546098" "delins" "0" "01695" "ABCA4_002145" "g.94546097_94546098delinsAT" "" "{PMID:Sodi 2016:26743751}" "" "(p.Tyr345*)" "" "Unknown" "" "" "0" "" "" "g.94080541_94080542delinsAT" "" "pathogenic (recessive)" ""
"0000774093" "1" "70" "1" "94466422" "94466422" "subst" "2.43651E-5" "01695" "ABCA4_000817" "g.94466422C>T" "" "{PMID:Sodi 2016:26743751}" "" "(p.Cys2150Tyr)" "" "Unknown" "" "" "0" "" "" "g.94000866C>T" "" "likely pathogenic (recessive)" ""
"0000774094" "1" "90" "1" "94564549" "94564549" "subst" "0" "01695" "ABCA4_000199" "g.94564549T>A" "" "{PMID:Sodi 2016:26743751}" "" "c.571-2A>T" "" "Unknown" "" "" "0" "" "" "g.94098993T>A" "" "pathogenic (recessive)" ""
"0000774095" "0" "70" "1" "94495123" "94495123" "subst" "0.000117967" "01695" "ABCA4_000544" "g.94495123G>T" "" "{PMID:Sodi 2016:26743751}" "" "(p.Leu1473Met)" "" "Unknown" "" "" "0" "" "" "g.94029567G>T" "" "likely pathogenic (recessive)" ""
"0000774096" "2" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sodi 2016:26743751}" "" "(p.Gly1961Glu)" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000774097" "1" "50" "1" "94544257" "94544257" "subst" "0" "01695" "ABCA4_000324" "g.94544257G>T" "" "{PMID:Sodi 2016:26743751}" "" "(p.Asn415Lys)" "" "Unknown" "" "" "0" "" "" "g.94078701G>T" "" "VUS" ""
"0000774098" "1" "90" "1" "94509026" "94509026" "subst" "4.06497E-5" "01695" "ABCA4_000660" "g.94509026G>A" "" "{PMID:Sodi 2016:26743751}" "" "(p.T1hr019Met)" "" "Unknown" "" "" "0" "" "" "g.94043470G>A" "" "pathogenic (recessive)" ""
"0000774099" "1" "90" "1" "94505675" "94505675" "subst" "0" "01695" "ABCA4_000610" "g.94505675G>T" "" "{PMID:Sodi 2016:26743751}" "" "(p.Cys1177*)" "" "Unknown" "" "" "0" "" "" "g.94040119G>T" "" "pathogenic (recessive)" ""
"0000774100" "1" "70" "1" "94508322" "94508322" "subst" "1.62513E-5" "01695" "ABCA4_000128" "g.94508322C>T" "" "{PMID:Sodi 2016:26743751}" "" "(p.Arg1108His)" "" "Unknown" "" "" "0" "" "" "g.94042766C>T" "" "likely pathogenic (recessive)" ""
"0000774101" "0" "50" "1" "94496039" "94496039" "subst" "0.00157963" "01695" "ABCA4_000552" "g.94496039C>T" "" "{PMID:Sodi 2016:26743751}" "" "(p.Val1433Ile)" "" "Unknown" "" "" "0" "" "" "g.94030483C>T" "" "VUS" ""
"0000774102" "1" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sodi 2016:26743751}" "" "(p.Gly1961Glu)" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000774103" "1" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sodi 2016:26743751}" "" "(p.Gly1961Glu)" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000774104" "1" "90" "1" "94496571" "94496571" "subst" "4.06174E-6" "01695" "ABCA4_000111" "g.94496571G>A" "" "{PMID:Sodi 2016:26743751}" "" "(p.Gln1412*)" "" "Unknown" "" "" "0" "" "" "g.94031015G>A" "" "pathogenic (recessive)" ""
"0000774105" "1" "90" "1" "94564549" "94564549" "subst" "0" "01695" "ABCA4_000199" "g.94564549T>A" "" "{PMID:Sodi 2016:26743751}" "" "c.571-2A>T" "" "Unknown" "" "" "0" "" "" "g.94098993T>A" "" "pathogenic (recessive)" ""
"0000774106" "1" "70" "1" "94476890" "94476890" "subst" "4.06227E-6" "01695" "ABCA4_000126" "g.94476890G>T" "" "{PMID:Sodi 2016:26743751}" "" "(p.His1838Asn)" "" "Unknown" "" "" "0" "" "" "g.94011334G>T" "" "likely pathogenic (recessive)" ""
"0000774107" "1" "70" "1" "94497334" "94497334" "subst" "0" "01695" "ABCA4_000574" "g.94497334C>T" "" "{PMID:Sodi 2016:26743751}" "" "(p.Gln1376Gln)" "" "Unknown" "" "" "0" "" "" "g.94031778C>T" "" "likely pathogenic (recessive)" ""
"0000774108" "1" "70" "1" "94495123" "94495123" "subst" "0.000117967" "01695" "ABCA4_000544" "g.94495123G>T" "" "{PMID:Sodi 2016:26743751}" "" "(p.Leu1473Met)" "" "Unknown" "" "" "0" "" "" "g.94029567G>T" "" "likely pathogenic (recessive)" ""
"0000774109" "1" "70" "1" "94466425" "94466425" "subst" "0" "01695" "ABCA4_000819" "g.94466425C>A" "" "{PMID:Sodi 2016:26743751}" "" "(p.Arg2149Leu)" "" "Unknown" "" "" "0" "" "" "g.94000869C>A" "" "likely pathogenic (recessive)" ""
"0000774110" "1" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Sodi 2016:26743751}" "" "c.5714+5G>A" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000774111" "1" "50" "1" "94476378" "94476378" "subst" "0.000499679" "01695" "ABCA4_000412" "g.94476378G>A" "" "{PMID:Sodi 2016:26743751}" "" "(p.Arg1898Cys)" "" "Unknown" "" "" "0" "" "" "g.94010822G>A" "" "VUS" ""
"0000774112" "0" "50" "1" "94512602" "94512602" "subst" "0.000369717" "01695" "ABCA4_000052" "g.94512602C>T" "" "{PMID:Sodi 2016:26743751}" "" "(p.Val931Met)" "" "Unknown" "" "" "0" "" "" "g.94047046C>T" "" "VUS" ""
"0000774113" "1" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sodi 2016:26743751}" "" "(p.Gly1961Glu)" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000774114" "0" "50" "1" "94512602" "94512602" "subst" "0.000369717" "01695" "ABCA4_000052" "g.94512602C>T" "" "{PMID:Sodi 2016:26743751}" "" "(p.Val931Met)" "" "Unknown" "" "" "0" "" "" "g.94047046C>T" "" "VUS" ""
"0000774115" "1" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sodi 2016:26743751}" "" "(p.Gly1961Glu)" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000774116" "1" "70" "1" "94480142" "94480142" "subst" "0" "01695" "ABCA4_001693" "g.94480142C>T" "" "{PMID:Sodi 2016:26743751}" "" "(p.Ser1806Asn)" "" "Unknown" "" "" "0" "" "" "g.94014586C>T" "" "likely pathogenic (recessive)" ""
"0000774117" "1" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sodi 2016:26743751}" "" "(p.Gly1961Glu)" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000774118" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Sodi 2016:26743751}" "" "(p.Ala1038Val)" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000774119" "0" "70" "1" "94526148" "94526148" "subst" "0" "01695" "ABCA4_002054" "g.94526148A>G" "" "{PMID:Sodi 2016:26743751}" "" "(p.Leu702Pro)" "" "Unknown" "" "" "0" "" "" "g.94060592A>G" "" "likely pathogenic (recessive)" ""
"0000774120" "1" "70" "1" "94514424" "94514424" "subst" "4.06105E-6" "01695" "ABCA4_000972" "g.94514424C>T" "" "{PMID:Sodi 2016:26743751}" "" "(p.Asp915Asn)" "" "Unknown" "" "" "0" "" "" "g.94048868C>T" "" "likely pathogenic (recessive)" ""
"0000774121" "1" "70" "1" "94473788" "94473788" "del" "0" "01695" "ABCA4_000398" "g.94473788del" "" "{PMID:Sodi 2016:26743751}" "" "c.5898+5del" "" "Unknown" "" "" "0" "" "" "g.94008232del" "" "likely pathogenic (recessive)" ""
"0000774122" "1" "70" "1" "94473788" "94473788" "del" "0" "01695" "ABCA4_000398" "g.94473788del" "" "{PMID:Sodi 2016:26743751}" "" "c.5898+5del" "" "Unknown" "" "" "0" "" "" "g.94008232del" "" "likely pathogenic (recessive)" ""
"0000774123" "1" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Sodi 2016:26743751}" "" "c.5714+5G>A" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000774124" "1" "90" "1" "94473278" "94473278" "del" "3.25908E-5" "01695" "ABCA4_000392" "g.94473278del" "" "{PMID:Sodi 2016:26743751}" "" "(p.Val1973*)" "" "Unknown" "" "" "0" "" "" "g.94007722del" "" "pathogenic (recessive)" ""
"0000774125" "11" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Nassisi 2019:31614660}" "" "p.(Gly1961Glu)" "" "Unknown" "yes" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000774126" "21" "90" "1" "94492937" "94492937" "subst" "0" "01695" "ABCA4_000529" "g.94492937G>A" "" "{PMID:Nassisi 2019:31614660}" "" "p.[=Arg1514Leufs*36]" "" "Unknown" "yes" "" "0" "" "" "g.94027381G>A" "" "pathogenic (recessive)" ""
"0000774127" "0" "90" "1" "94473801" "94473801" "del" "0" "01695" "ABCA4_000402" "g.94473801del" "" "{PMID:Nassisi 2019:31614660}" "" "p.(Pro1963Argfs*11)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94008245del" "" "pathogenic (recessive)" ""
"0000774128" "20" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Nassisi 2019:31614660}" "" "p.[Thr1821Aspfs*6, Thr1821Valfs*13]" "" "Unknown" "yes" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000774129" "20" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Nassisi 2019:31614660}" "" "p.(Asn1868Ile)" "" "Unknown" "yes" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000774130" "0" "70" "1" "94484001" "94484001" "subst" "0" "01695" "ABCA4_000016" "g.94484001C>T" "" "{PMID:Nassisi 2019:31614660}" "" "p.[=,Met1733Glufs*78]" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94018445C>T" "" "likely pathogenic (recessive)" ""
"0000774131" "0" "70" "1" "94484001" "94484001" "subst" "0" "01695" "ABCA4_000016" "g.94484001C>T" "" "{PMID:Nassisi 2019:31614660}" "" "p.[=,Met1733Glufs*78]" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94018445C>T" "" "likely pathogenic (recessive)" ""
"0000774132" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Nassisi 2019:31614660}" "" "p.[=,Glu1863Leufs*33]" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000774133" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Nassisi 2019:31614660}" "" "p.[=,Arg1514Leufs*36]" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000774134" "0" "70" "1" "94484001" "94484001" "subst" "0" "01695" "ABCA4_000016" "g.94484001C>T" "" "{PMID:Nassisi 2019:31614660}" "" "p.[=,Met1733Glufs*78]" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94018445C>T" "" "likely pathogenic (recessive)" ""
"0000774135" "0" "70" "1" "94473281" "94473281" "subst" "0" "01695" "ABCA4_000393" "g.94473281C>T" "" "{PMID:Nassisi 2019:31614660}" "" "p.(Gly1972Arg)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94007725C>T" "" "likely pathogenic (recessive)" ""
"0000774136" "21" "70" "1" "94484001" "94484001" "subst" "0" "01695" "ABCA4_000016" "g.94484001C>T" "" "{PMID:Nassisi 2019:31614660}" "" "p.[=,Met1733Glufs*78]" "" "Unknown" "yes" "" "0" "" "" "g.94018445C>T" "" "likely pathogenic (recessive)" ""
"0000774137" "0" "90" "1" "94492937" "94492937" "subst" "0" "01695" "ABCA4_000529" "g.94492937G>A" "" "{PMID:Nassisi 2019:31614660}" "" "p.[=,Arg1514Leufs*36]" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94027381G>A" "" "pathogenic (recessive)" ""
"0000774138" "11" "70" "1" "94496509" "94496509" "subst" "0.00475243" "01695" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Nassisi 2019:31614660}" "" "p.[=,Ile1377Hisfs*3]" "" "Unknown" "yes" "" "0" "" "" "g.94030953C>T" "" "likely pathogenic (recessive)" ""
"0000774139" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Nassisi 2019:31614660}" "" "p.(Asn1868Ile)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000774140" "0" "70" "1" "94484001" "94484001" "subst" "0" "01695" "ABCA4_000016" "g.94484001C>T" "" "{PMID:Nassisi 2019:31614660}" "" "p.[=,Met1733Glufs*78]" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94018445C>T" "" "likely pathogenic (recessive)" ""
"0000774141" "11" "90" "1" "94466605" "94466605" "subst" "0" "01695" "ABCA4_000157" "g.94466605G>C" "" "{PMID:Souied 1999:10458172}" "" "Ile2113Met" "" "Unknown" "yes" "" "0" "" "" "g.94001049G>C" "" "pathogenic (recessive)" ""
"0000774142" "11" "90" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Souied 1999:10458172}" "" "Arg2107His" "" "Unknown" "yes" "" "0" "" "" "g.94001068C>T" "" "pathogenic (recessive)" ""
"0000774143" "11" "90" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Souied 1999:10458172}" "" "Arg2107His" "" "Unknown" "yes" "" "0" "" "" "g.94001068C>T" "" "pathogenic (recessive)" ""
"0000774144" "11" "70" "1" "94473266" "94473266" "subst" "8.14677E-6" "01695" "ABCA4_000389" "g.94473266C>T" "" "{PMID:Souied 1999:10458172}" "" "Gly1977Ser" "" "Unknown" "yes" "" "0" "" "" "g.94007710C>T" "" "likely pathogenic (recessive)" ""
"0000774145" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Scholl 2001:11328755}" "" "G1961E" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000774146" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Scholl 2001:11328755}" "" "G1961E" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000774147" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Scholl 2001:11328755}" "" "G1961E" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000774148" "0" "70" "1" "94473272" "94473272" "subst" "0" "01695" "ABCA4_000390" "g.94473272C>G" "" "{PMID:Scholl 2001:11328755}" "" "G1975R" "" "Unknown" "" "" "0" "" "" "g.94007716C>G" "" "likely pathogenic (recessive)" ""
"0000774149" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Scholl 2001:11328755}" "" "L541P+A1038V" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000774150" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Scholl 2001:11328755}" "" "IVS40+5G>A" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000774151" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Scholl 2001:11328755}" "" "G1961E" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000774152" "0" "50" "1" "94476378" "94476378" "subst" "0.000499679" "01695" "ABCA4_000412" "g.94476378G>A" "" "{PMID:Scholl 2001:11328755}" "" "R1898H" "" "Unknown" "" "" "0" "" "" "g.94010822G>A" "" "VUS" ""
"0000774153" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Scholl 2001:11328755}" "" "G1961E" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000774154" "0" "50" "1" "94485269" "94485269" "subst" "0" "01695" "ABCA4_000146" "g.94485269A>G" "" "{PMID:Scholl 2001:11328755}; {PMID:Reinhard 2007:17562343}" "" "S1689P" "" "Unknown" "" "" "0" "" "" "g.94019713A>G" "" "VUS" ""
"0000774155" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Scholl 2001:11328755}" "" "G1961E" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000774156" "0" "50" "1" "94481365" "94481365" "subst" "4.06636E-5" "01695" "ABCA4_000457" "g.94481365C>T" "" "{PMID:Scholl 2001:11328755}" "" "G1748R" "" "Unknown" "" "" "0" "" "" "g.94015809C>T" "" "VUS" ""
"0000774157" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Scholl 2001:11328755}" "" "L541P+A1038V" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000774158" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Scholl 2001:11328755}" "" "G863A" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000774159" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Scholl 2001:11328755}" "" "IVS40+5G>A" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000774160" "0" "70" "1" "94473266" "94473266" "subst" "8.14677E-6" "01695" "ABCA4_000389" "g.94473266C>T" "" "{PMID:Scholl 2001:11328755}{PMID:Reinhard 2007:17562343}" "" "G1977S" "" "Unknown" "" "" "0" "" "" "g.94007710C>T" "" "likely pathogenic (recessive)" ""
"0000774161" "3" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Scholl 2001:11328755}" "" "L541P+A1038V" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000774162" "0" "70" "1" "94467467" "94467467" "subst" "4.06164E-6" "01695" "ABCA4_000780" "g.94467467G>A" "" "{PMID:Scholl 2001:11328755}" "" "R2077W" "" "Unknown" "" "" "0" "" "" "g.94001911G>A" "" "likely pathogenic (recessive)" ""
"0000774163" "0" "90" "1" "94496571" "94496571" "subst" "4.06174E-6" "01695" "ABCA4_000111" "g.94496571G>A" "" "{PMID:Scholl 2001:11328755}{PMID:Scholl 2001:11372548}" "" "Q1412X" "" "Unknown" "" "" "0" "" "" "g.94031015G>A" "" "pathogenic (recessive)" ""
"0000774164" "1" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Scholl 2001:11328755}" "" "R572Q+G863A" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000774165" "0" "90" "1" "94486794" "94486794" "subst" "0" "01695" "ABCA4_000479" "g.94486794A>T" "" "{PMID:Scholl 2001:11328755}" "" "IVS35+2T>A" "" "Unknown" "" "" "0" "" "" "g.94021238A>T" "" "pathogenic (recessive)" ""
"0000774166" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Scholl 2001:11328755}" "" "L541P+A1038V" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000774167" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Scholl 2001:11328755}" "" "G1961E" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000774168" "0" "70" "1" "94512517" "94512517" "subst" "0" "01695" "ABCA4_000686" "g.94512517G>A" "" "{PMID:Scholl 2001:11328755}" "" "T959I" "" "Unknown" "" "" "0" "" "" "g.94046961G>A" "" "likely pathogenic (recessive)" ""
"0000774169" "0" "90" "1" "94481359" "94481359" "subst" "0" "01695" "ABCA4_000456" "g.94481359G>A" "" "{PMID:Scholl 2001:11328755}{PMID:Reinhard 2007:17562343}" "" "Q1750X" "" "Unknown" "" "" "0" "" "" "g.94015803G>A" "" "pathogenic (recessive)" ""
"0000774170" "0" "90" "1" "94481359" "94481359" "subst" "0" "01695" "ABCA4_000456" "g.94481359G>A" "" "{PMID:Scholl 2001:11328755}{PMID:Reinhard 2007:17562343}" "" "Q1750X" "" "Unknown" "" "" "0" "" "" "g.94015803G>A" "" "pathogenic (recessive)" ""
"0000774171" "0" "50" "1" "94476417" "94476417" "subst" "0" "01695" "ABCA4_000416" "g.94476417C>T" "" "{PMID:Scholl 2001:11372548}" "" "E1885K" "" "Unknown" "" "" "0" "" "" "g.94010861C>T" "" "VUS" ""
"0000774172" "1" "70" "1" "94512478" "94512478" "subst" "3.65871E-5" "01695" "ABCA4_000678" "g.94512478G>T" "" "{PMID:Eksandh 2001:11594993}" "" "" "" "Unknown" "" "" "0" "" "" "g.94046922G>T" "" "likely pathogenic (recessive)" ""
"0000774173" "3" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Eksandh 2001:11594993}" "" "" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000774174" "3" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Eksandh 2001:11594993}" "" "" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000774175" "3" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Wiszniewski 2005:16103129}" "" "[L541P; A1038V]" "" "Unknown" "yes" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000774176" "3" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Wiszniewski 2005:16103129}" "" "[L541P; A1038V]" "" "Unknown" "yes" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000774177" "3" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Wiszniewski 2005:16103129}" "" "[L541P; A1038V]" "" "Unknown" "yes" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000774178" "3" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Wiszniewski 2005:16103129}" "" "[L541P; A1038V]" "" "Unknown" "yes" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000774179" "3" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Wiszniewski 2005:16103129}" "" "[L541P; A1038V]" "" "Unknown" "yes" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000774180" "3" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Wiszniewski 2005:16103129}" "" "[L541P; A1038V]" "" "Unknown" "yes" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000774181" "21" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Wiszniewski 2005:16103129}" "" "R602W" "" "Unknown" "yes" "" "0" "" "" "g.94062710G>A" "" "pathogenic (recessive)" ""
"0000774182" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Wiszniewski 2005:16103129}" "" "[L541P;A1038V]" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000774183" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Wiszniewski 2005:16103129}" "" "G1961E" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000774184" "3" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Wiszniewski 2005:16103129}" "" "[L541P;A1038V]" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000774185" "3" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Wiszniewski 2005:16103129}" "" "[L541P;A1038V]" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000774186" "3" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Wiszniewski 2005:16103129}" "" "[L541P;A1038V]" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000774187" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Wiszniewski 2005:16103129}" "" "[L541P;A1038V]" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000774188" "0" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "" "{PMID:Wiszniewski 2005:16103129}" "" "C1490Y" "" "Unknown" "" "" "0" "" "" "g.94029515C>T" "" "likely pathogenic (recessive)" ""
"0000774189" "3" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Wiszniewski 2005:16103129}" "" "[L541P;A1038V]" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000774190" "3" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Wiszniewski 2005:16103129}" "" "[L541P;A1038V]" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000774191" "3" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Wiszniewski 2005:16103129}" "" "[L541P;A1038V]" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000774192" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Wiszniewski 2005:16103129}" "" "R602W" "" "Unknown" "" "" "0" "" "" "g.94062710G>A" "" "pathogenic (recessive)" ""
"0000774193" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Wiszniewski 2005:16103129}" "" "[L541P;A1038V]" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000774194" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Wiszniewski 2005:16103129}" "" "G1961E" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000774195" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Wiszniewski 2005:16103129}" "" "[L541P;A1038V]" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000774196" "0" "90" "1" "94509026" "94509026" "subst" "4.06497E-5" "01695" "ABCA4_000660" "g.94509026G>A" "" "{PMID:Wiszniewski 2005:16103129}" "" "T1019M" "" "Unknown" "" "" "0" "" "" "g.94043470G>A" "" "pathogenic (recessive)" ""
"0000774197" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Wiszniewski 2005:16103129}" "" "[L541P;A1038V]" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000774198" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Wiszniewski 2005:16103129}" "" "L2027F" "" "Unknown" "" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic (recessive)" ""
"0000774199" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Wiszniewski 2005:16103129}" "" "[L541P;A1038V]" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000774200" "0" "70" "1" "94508322" "94508322" "subst" "1.62513E-5" "01695" "ABCA4_000128" "g.94508322C>T" "" "{PMID:Wiszniewski 2005:16103129}" "" "R1108H" "" "Unknown" "" "" "0" "" "" "g.94042766C>T" "" "likely pathogenic (recessive)" ""
"0000774201" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Wiszniewski 2005:16103129}" "" "[L541P;A1038V]" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000774202" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Wiszniewski 2005:16103129}" "" "G1961E" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000774203" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Wiszniewski 2005:16103129}" "" "[L541P;A1038V]" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000774204" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Wiszniewski 2005:16103129}" "" "L2027F" "" "Unknown" "" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic (recessive)" ""
"0000774205" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Wiszniewski 2005:16103129}" "" "[L541P;A1038V]" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000774206" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Wiszniewski 2005:16103129}" "" "P1380L" "" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000774207" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Wiszniewski 2005:16103129}" "" "[L541P;A1038V]" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000774208" "0" "90" "1" "94509026" "94509026" "subst" "4.06497E-5" "01695" "ABCA4_000660" "g.94509026G>A" "" "{PMID:Wiszniewski 2005:16103129}" "" "T1019M" "" "Unknown" "" "" "0" "" "" "g.94043470G>A" "" "pathogenic (recessive)" ""
"0000774209" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Wiszniewski 2005:16103129}" "" "G1961E" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000774210" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Wiszniewski 2005:16103129}" "" "G1961E" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000774211" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Wiszniewski 2005:16103129}" "" "L2027F" "" "Unknown" "" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic (recessive)" ""
"0000774212" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Wiszniewski 2005:16103129}" "" "L2027F" "" "Unknown" "" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic (recessive)" ""
"0000774213" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Wiszniewski 2005:16103129}" "" "[L541P;A1038V]" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000774214" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Wiszniewski 2005:16103129}" "" "L2027F" "" "Unknown" "" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic (recessive)" ""
"0000774215" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Hargitai 2005:16303926}" "" "L541P/A1038V" "no variant 2nd chromosome" "Unknown" "yes" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000774216" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Hargitai 2005:16303926}" "" "L541P/A1038V" "" "Unknown" "yes" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000774217" "2" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Hargitai 2005:16303926}" "" "G1961E" "" "Unknown" "yes" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000774218" "2" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Hargitai 2005:16303926}" "" "G1961E" "" "Unknown" "yes" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000774219" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Hargitai 2005:16303926}" "" "L541P/A1038V" "" "Unknown" "yes" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000774220" "2" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Hargitai 2005:16303926}" "" "G863A" "" "Unknown" "yes" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000774221" "2" "90" "1" "94473278" "94473278" "del" "3.25908E-5" "01695" "ABCA4_000392" "g.94473278del" "" "{PMID:Hargitai 2005:16303926}" "" "5917delG" "" "Unknown" "yes" "" "0" "" "" "g.94007722del" "" "pathogenic (recessive)" ""
"0000774222" "2" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Hargitai 2005:16303926}" "" "G1961E" "" "Unknown" "yes" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000774223" "2" "90" "1" "94473278" "94473278" "del" "3.25908E-5" "01695" "ABCA4_000392" "g.94473278del" "" "{PMID:Hargitai 2005:16303926}" "" "5917delG" "" "Unknown" "yes" "" "0" "" "" "g.94007722del" "" "pathogenic (recessive)" ""
"0000774224" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Hargitai 2005:16303926}" "" "L541P/A1038V" "" "Unknown" "yes" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000774225" "2" "70" "1" "94490550" "94490550" "subst" "0.000105588" "01695" "ABCA4_000523" "g.94490550C>T" "" "{PMID:Hargitai 2005:16303926}" "" "D1532N" "" "Unknown" "yes" "" "0" "" "" "g.94024994C>T" "" "likely pathogenic (recessive)" ""
"0000774226" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Hargitai 2005:16303926}" "" "L541P/A1038V" "" "Unknown" "yes" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000774227" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Hargitai 2005:16303926}" "" "L541P/A1038V" "" "Unknown" "yes" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000774228" "2" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Hargitai 2005:16303926}" "" "G863A" "" "Unknown" "yes" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000774229" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Hargitai 2005:16303926}" "" "L541P/A1038V" "no variant 2nd chromosome" "Unknown" "yes" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000774230" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Hargitai 2005:16303926}" "" "L541P/A1038V" "" "Unknown" "yes" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000774231" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Hargitai 2005:16303926}" "" "L541P/A1038V" "" "Unknown" "yes" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000774232" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Hargitai 2005:16303926}" "" "L541P/A1038V" "" "Unknown" "yes" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000774233" "2" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Hargitai 2005:16303926}" "" "G1961E" "" "Unknown" "yes" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000774234" "2" "90" "1" "94473278" "94473278" "del" "3.25908E-5" "01695" "ABCA4_000392" "g.94473278del" "" "{PMID:Hargitai 2005:16303926}" "" "5917delG" "" "Unknown" "yes" "" "0" "" "" "g.94007722del" "" "pathogenic (recessive)" ""
"0000774235" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Hargitai 2005:16303926}" "" "L541P/A1038V" "" "Unknown" "yes" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000774236" "2" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Hargitai 2005:16303926}" "" "G863A" "" "Unknown" "yes" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000774237" "11" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Fingert 2006:16682602}" "" "P1380L" "confirmed uniparental isodisomy" "Uniparental disomy, paternal allele" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000774238" "21" "90" "1" "94548998" "94548998" "subst" "0" "01695" "ABCA4_000362" "g.94548998C>A" "" "{PMID:Sodi 2006:16703556}" "" "IVS6->1GT" "" "Unknown" "yes" "" "0" "" "" "g.94083442C>A" "" "pathogenic (recessive)" ""
"0000774239" "2" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Ducroq 2006:16896346}" "" "p.G1961E" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000774240" "2" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Ducroq 2006:16896346}" "" "p.G1961E" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000774241" "11" "70" "1" "94505599" "94505599" "subst" "0" "01695" "ABCA4_000152" "g.94505599C>T" "" "{PMID:Ducroq 2006:16896346}" "" "c.3607G>A; p.G1202R" "" "Germline" "yes" "" "0" "" "" "g.94040043C>T" "" "likely pathogenic (recessive)" ""
"0000774242" "21" "70" "1" "94505599" "94505599" "subst" "0" "01695" "ABCA4_000152" "g.94505599C>T" "" "{PMID:Ducroq 2006:16896346}" "" "c.3607G>A; p.G1202R" "" "Germline" "yes" "" "0" "" "" "g.94040043C>T" "" "likely pathogenic (recessive)" ""
"0000774243" "21" "70" "1" "94505599" "94505599" "subst" "0" "01695" "ABCA4_000152" "g.94505599C>T" "" "{PMID:Ducroq 2006:16896346}" "" "p.G1961E" "" "Germline" "yes" "" "0" "" "" "g.94040043C>T" "" "likely pathogenic (recessive)" ""
"0000774244" "21" "70" "1" "94505599" "94505599" "subst" "0" "01695" "ABCA4_000152" "g.94505599C>T" "" "{PMID:Ducroq 2006:16896346}" "" "p.G1961E" "" "Germline" "yes" "" "0" "" "" "g.94040043C>T" "" "likely pathogenic (recessive)" ""
"0000774245" "1" "10" "1" "94512565" "94512565" "subst" "0.030364" "01695" "ABCA4_000002" "g.94512565C>T" "" "{PMID:Aleman 2007:17325179}" "" "R943Q" "" "Unknown" "" "" "0" "" "" "g.94047009C>T" "" "benign" ""
"0000774246" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Aleman 2007:17325179}" "" "G1961E" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000774247" "0" "70" "1" "94474323" "94474323" "subst" "2.03034E-5" "01695" "ABCA4_000156" "g.94474323A>G" "" "{PMID:Aleman 2007:17325179}{PMID:Cideciyan 2007:17429493}" "" "L1940P" "" "Unknown" "" "" "0" "" "" "g.94008767A>G" "" "likely pathogenic (recessive)" ""
"0000774248" "0" "50" "1" "94485220" "94485220" "subst" "0.000106324" "01695" "ABCA4_000121" "g.94485220C>T" "" "{PMID:Aleman 2007:17325179}" "" "R1705Q" "" "Unknown" "" "" "0" "" "" "g.94019664C>T" "" "VUS" ""
"0000774249" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Aleman 2007:17325179}{PMID:Cideciyan 2007:17429493}" "" "G1961E" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000774250" "0" "50" "1" "94568686" "94568686" "subst" "0.00258122" "01695" "ABCA4_000212" "g.94568686C>T" "" "{PMID:Aleman 2007:17325179}" "" "R152Q" "" "Unknown" "" "" "0" "" "" "g.94103130C>T" "" "VUS" ""
"0000774251" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Aleman 2007:17325179}{PMID:Cideciyan 2007:17429493}" "" "IVS40+5G>A" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000774252" "0" "10" "1" "94497563" "94497563" "subst" "0.00492504" "01695" "ABCA4_000090" "g.94497563C>T" "" "{PMID:Aleman 2007:17325179}" "" "R1300Q" "" "Unknown" "" "" "0" "" "" "g.94032007C>T" "" "benign" ""
"0000774253" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Aleman 2007:17325179}" "" "G1961E" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000774254" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Aleman 2007:17325179}{PMID:Cideciyan 2007:17429493}" "" "G1961E" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000774255" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Aleman 2007:17325179}{PMID:Cideciyan 2007:17429493}" "" "G1961E" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000774256" "0" "90" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Aleman 2007:17325179}" "" "R2107H" "" "Unknown" "" "" "0" "" "" "g.94001068C>T" "" "pathogenic (recessive)" ""
"0000774257" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cideciyan 2007:17429493}" "" "G1961E" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000774258" "0" "10" "1" "94512565" "94512565" "subst" "0.030364" "01695" "ABCA4_000002" "g.94512565C>T" "" "{PMID:Reinhard 2007:17562343}" "" "" "" "Unknown" "" "" "0" "" "" "g.94047009C>T" "" "benign" ""
"0000774259" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Reinhard 2007:17562343}" "" "G1961E" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000774260" "0" "70" "1" "94473272" "94473272" "subst" "0" "01695" "ABCA4_000390" "g.94473272C>G" "" "{PMID:Reinhard 2007:17562343}" "" "G1975R" "" "Unknown" "" "" "0" "" "" "g.94007716C>G" "" "likely pathogenic (recessive)" ""
"0000774261" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Reinhard 2007:17562343}" "" "L541P+A1038V" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000774262" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Reinhard 2007:17562343}" "" "IVS40+5G->A" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000774263" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Reinhard 2007:17562343}" "" "G1961E" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000774264" "0" "50" "1" "94485269" "94485269" "subst" "0" "01695" "ABCA4_000146" "g.94485269A>G" "" "{PMID:Reinhard 2007:17562343}" "" "S1689P" "" "Unknown" "" "" "0" "" "" "g.94019713A>G" "" "VUS" ""
"0000774265" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Reinhard 2007:17562343}" "" "G1961E" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000774266" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Reinhard 2007:17562343}" "" "L541P+A1038V" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000774267" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Reinhard 2007:17562343}" "" "G863A" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000774268" "0" "70" "1" "94474332" "94474332" "subst" "4.06085E-6" "01695" "ABCA4_001655" "g.94474332A>G" "" "{PMID:Stenirri 2007:17932850}" "" "I1937T (5810T>C)" "" "Unknown" "" "" "0" "" "" "g.94008776A>G" "" "likely pathogenic (recessive)" ""
"0000774269" "0" "70" "1" "94485163" "94485163" "subst" "0" "01695" "ABCA4_001725" "g.94485163C>A" "" "{PMID:Stenirri 2007:17932850}" "" "W1724C (5171G>T)" "" "Unknown" "" "" "0" "" "" "g.94019607C>A" "" "likely pathogenic (recessive)" ""
"0000774270" "11" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Bini 2007:17997789}" "" "A1038V (GCC > GTC)" "" "Unknown" "yes" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000774271" "21" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Bini 2007:17997789}" "" "G1961E" "" "Unknown" "yes" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000774272" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Hwang 2008:18854780}" "" "IVS40 + 5G>A" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000774273" "0" "70" "1" "94471055" "94471055" "subst" "0.00035346" "01695" "ABCA4_000029" "g.94471055C>T" "" "{PMID:Hwang 2008:18854780}" "" "R2030Q" "" "Unknown" "" "" "0" "" "" "g.94005499C>T" "" "likely pathogenic (recessive)" ""
"0000774274" "0" "70" "1" "94485247" "94485247" "subst" "4.07647E-5" "01695" "ABCA4_000475" "g.94485247C>T" "" "{PMID:Hwang 2008:18854780}" "" "S1696N" "" "Unknown" "" "" "0" "" "" "g.94019691C>T" "" "likely pathogenic (recessive)" ""
"0000774275" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Hwang 2008:18854780}" "" "R1108C" "" "Unknown" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000774276" "1" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "Arg152Gln, Arg1108Cys, Arg2107His" "" "Unknown" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000774277" "1" "90" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "Arg152Gln, Arg1108Cys, Arg2107His" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94001068C>T" "" "pathogenic (recessive)" ""
"0000774278" "1" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "Arg152Gln, Arg1108Cys, Arg2107His" "" "Unknown" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000774279" "1" "90" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "Arg152Gln, Arg1108Cys, Arg2107His" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94001068C>T" "" "pathogenic (recessive)" ""
"0000774280" "1" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "Arg152Gln, Arg1108Cys, Arg2107His" "" "Unknown" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000774281" "1" "90" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "Arg152Gln, Arg1108Cys, Arg2107His" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94001068C>T" "" "pathogenic (recessive)" ""
"0000774282" "1" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "Arg152Gln, Arg1108Cys, Arg2107His" "" "Unknown" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000774283" "1" "90" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "Arg152Gln, Arg1108Cys, Arg2107His" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94001068C>T" "" "pathogenic (recessive)" ""
"0000774284" "1" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "Arg152Gln, Arg1108Cys, Arg2107His" "" "Unknown" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000774285" "1" "90" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "Arg152Gln, Arg1108Cys, Arg2107His" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94001068C>T" "" "pathogenic (recessive)" ""
"0000774286" "1" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "Arg152Gln, Arg1108Cys, Arg2107His" "" "Unknown" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000774287" "1" "90" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "Arg152Gln, Arg1108Cys, Arg2107His" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94001068C>T" "" "pathogenic (recessive)" ""
"0000774288" "1" "50" "1" "94486888" "94486888" "subst" "3.65548E-5" "01695" "ABCA4_000137" "g.94486888G>C" "" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "c.5041del15; Ser1642Arg" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94021332G>C" "" "VUS" ""
"0000774289" "1" "50" "1" "94486888" "94486888" "subst" "3.65548E-5" "01695" "ABCA4_000137" "g.94486888G>C" "" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "c.5041del15; Ser1642Arg" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94021332G>C" "" "VUS" ""
"0000774290" "1" "50" "1" "94486888" "94486888" "subst" "3.65548E-5" "01695" "ABCA4_000137" "g.94486888G>C" "" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "c.5041del15; Ser1642Arg" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94021332G>C" "" "VUS" ""
"0000774291" "1" "50" "1" "94486888" "94486888" "subst" "3.65548E-5" "01695" "ABCA4_000137" "g.94486888G>C" "" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "c.5041del15; Ser1642Arg" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94021332G>C" "" "VUS" ""
"0000774292" "1" "50" "1" "94486888" "94486888" "subst" "3.65548E-5" "01695" "ABCA4_000137" "g.94486888G>C" "" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "c.5041del15; Ser1642Arg" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94021332G>C" "" "VUS" ""
"0000774293" "1" "10" "1" "94512565" "94512565" "subst" "0.030364" "01695" "ABCA4_000002" "g.94512565C>T" "" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "Gly863Ala; Arg943Gln" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94047009C>T" "" "benign" ""
"0000774294" "1" "70" "1" "94508919" "94508919" "subst" "7.31707E-5" "01695" "ABCA4_000653" "g.94508919G>A" "" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "Gly863Alal Arg1055Trp" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94043363G>A" "" "likely pathogenic (recessive)" ""
"0000774295" "1" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Riveiro-Alvarez 2008:18977788}" "" "Thr1253Met; Gly1961Glu" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000774296" "2" "70" "1" "94522254" "94522254" "subst" "0" "01695" "ABCA4_000742" "g.94522254G>T" "" "{PMID:Aguirre-Lamban 2009:19028736}" "" "c.2285C>A (15) p.Ala762Glu" "" "Unknown" "yes" "" "0" "" "" "g.94056698G>T" "" "likely pathogenic (recessive)" ""
"0000774297" "2" "70" "1" "94485162" "94485162" "subst" "0" "01695" "ABCA4_000467" "g.94485162C>A" "" "{PMID:Aguirre-Lamban 2009:19028736}" "" "c.5172G>T (36) p.Trp1724Cys" "" "Unknown" "yes" "" "0" "" "" "g.94019606C>A" "" "likely pathogenic (recessive)" ""
"0000774298" "0" "70" "1" "94486915" "94486938" "dup" "0" "01695" "ABCA4_001743" "g.94486915_94486938dup" "" "{PMID:Kellner 2009:19243736}" "" "c.4880>4903dup24 (p.Leu1627>Ala1634dup)" "" "Unknown" "" "" "0" "" "" "g.94021359_94021382dup" "" "likely pathogenic (recessive)" ""
"0000774299" "0" "70" "1" "94467520" "94467520" "subst" "0" "01695" "ABCA4_001608" "g.94467520C>G" "" "{PMID:Kellner 2009:19243736}" "" "c.6176G>C (p.Gly2059Ala)" "" "Unknown" "" "" "0" "" "" "g.94001964C>G" "" "likely pathogenic (recessive)" ""
"0000774300" "0" "50" "1" "94564462" "94564462" "subst" "4.06775E-5" "01695" "ABCA4_000380" "g.94564462C>G" "" "{PMID:Kellner 2009:19243736}" "" "c.656G>C (p.Arg219Thr)," "" "Unknown" "" "" "0" "" "" "g.94098906C>G" "" "VUS" ""
"0000774301" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Kellner 2009:19243736}" "" "c.2588G>C (p.Gly863Ala/delGly863)" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000774302" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Kellner 2009:19243736}" "" "c.1622T>C (p.Leu541Pro)/c.3113C>T (p.Ala1038Val)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000774303" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Kellner 2009:19243736}" "" "c.1622T>C (p.Leu541Pro)/c.3113C>T (p.Ala1038Val)" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000774304" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Kellner 2009:19243736}" "" "c.5882G>A (p.Gly1961Glu)" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000774305" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Kellner 2009:19243736}" "" "c.5882G>A (p.Gly1961Glu)" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000774306" "0" "90" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Kellner 2009:19243736}" "" "c.6320 G>A (p.Arg2107His)" "" "Unknown" "" "" "0" "" "" "g.94001068C>T" "" "pathogenic (recessive)" ""
"0000774307" "0" "70" "1" "94463568" "94463603" "del" "0" "01695" "ABCA4_000805" "g.94463568_94463603del" "" "{PMID:Kellner 2009:19243736}" "" "c.6543del36bp, (p.Leu2182>Phe2193del)" "" "Unknown" "" "" "0" "" "" "g.93998012_93998047del" "" "likely pathogenic (recessive)" ""
"0000774308" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Kellner 2009:19243736}" "" "c.5882G>A (p.Gly1961Glu)" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000774309" "0" "50" "1" "94528774" "94528774" "subst" "0.00264827" "01695" "ABCA4_000298" "g.94528774C>T" "" "{PMID:Kellner 2009:19243736}" "" "c.1654G>A (p.Val552Ile)" "" "Unknown" "" "" "0" "" "" "g.94063218C>T" "" "VUS" ""
"0000774310" "0" "70" "1" "94466422" "94466422" "subst" "2.43651E-5" "01695" "ABCA4_000817" "g.94466422C>T" "" "{PMID:Kellner 2009:19243736}" "" "c.6449G>A (p.Cys2150Tyr)" "" "Unknown" "" "" "0" "" "" "g.94000866C>T" "" "likely pathogenic (recessive)" ""
"0000774311" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Kellner 2009:19243736}" "" "c.2588G>C (p.Gly863Ala)" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000774312" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Kellner 2009:19243736}" "" "c.5461-10T>C" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000774313" "0" "70" "1" "94485247" "94485247" "subst" "4.07647E-5" "01695" "ABCA4_000475" "g.94485247C>T" "" "{PMID:Gomes 2009:19324865}" "" "S1696N" "" "Unknown" "" "" "0" "" "" "g.94019691C>T" "" "likely pathogenic (recessive)" ""
"0000774314" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Gomes 2009:19324865}" "" "L541P/A1038V" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000774315" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Gomes 2009:19324865}" "" "G1961E" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000774316" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Gomes 2009:19324865}" "" "G1961E" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000774317" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Gomes 2009:19324865}" "" "L541P/A1038V" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000774318" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Gomes 2009:19324865}" "" "G1961E" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000774319" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Gomes 2009:19324865}" "" "L541P/A1038V" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000774320" "11" "10" "1" "94467407" "94467407" "subst" "0.0756573" "01695" "ABCA4_000846" "g.94467407C>T" "" "{PMID:Roberts 2009:19365039}" "" "IVS45+7G>A" "" "Unknown" "yes" "" "0" "" "" "g.94001851C>T" "" "benign" ""
"0000774321" "21" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Roberts 2009:19365039}" "" "Het G863A" "" "Unknown" "yes" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000774322" "20" "90" "1" "94495009" "94495009" "dup" "0" "01695" "ABCA4_000087" "g.94495009dup" "" "{PMID:Roberts 2009:19365039}" "" "4535insC" "" "Unknown" "" "" "0" "" "" "g.94029453dup" "" "pathogenic (recessive)" ""
"0000774323" "11" "70" "1" "94496583" "94496583" "subst" "2.03092E-5" "01695" "ABCA4_000190" "g.94496583A>G" "" "{PMID:Roberts 2009:19365039}" "" "Het W1408R" "no variant 2nd chromosome; no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94031027A>G" "" "likely pathogenic (recessive)" ""
"0000774324" "0" "70" "1" "94577135" "94577135" "subst" "2.43718E-5" "01695" "ABCA4_000240" "g.94577135C>T" "" "{PMID:Pasadhika 2009:19406377}" "" "cys54tyr exon 3heterozygous" "" "Unknown" "" "" "0" "" "" "g.94111579C>T" "" "likely pathogenic (recessive)" ""
"0000774325" "0" "70" "1" "94522239" "94522239" "subst" "2.03305E-5" "01695" "ABCA4_000736" "g.94522239A>T" "" "{PMID:Pasadhika 2009:19406377}" "" "val767asp, heterozygous" "" "Unknown" "" "" "0" "" "" "g.94056683A>T" "" "likely pathogenic (recessive)" ""
"0000774326" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Pasadhika 2009:19406377}" "" "ala1038val exon 21 leu541pro exon 12, heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000774327" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sohrab 2010:20149343}" "" "c5882G>A" "" "Unknown" "yes" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000774328" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Chen 2010:20398653}" "" "L541P/A1038V" "no variant 2nd chromosome; segregation analysis done when possible" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000774329" "0" "90" "1" "94568570" "94568570" "subst" "0" "01695" "ABCA4_002198" "g.94568570C>G" "" "{PMID:Chen 2010:20398653}" "" "IVS5,+1,G>C" "segregation analysis done when possible" "Unknown" "" "" "0" "" "" "g.94103014C>G" "" "pathogenic (recessive)" ""
"0000774330" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Chen 2010:20398653}" "" "L541P/A1038V" "segregation analysis done when possible" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000774331" "0" "70" "1" "94466623" "94466625" "delins" "0" "01695" "ABCA4_001584" "g.94466623_94466625delinsTTT" "" "{PMID:Chen 2010:20398653}" "" "R2107K" "segregation analysis done when possible" "Unknown" "" "" "0" "" "" "g.94001067_94001069delinsTTT" "" "likely pathogenic (recessive)" ""
"0000774332" "0" "10" "1" "94461717" "94461717" "subst" "0.0703199" "01695" "ABCA4_000003" "g.94461717C>A" "" "{PMID:Chen 2010:20398653}" "" "S2255I" "segregation analysis done when possible" "Unknown" "" "" "0" "" "" "g.93996161C>A" "" "benign" ""
"0000774333" "0" "70" "1" "94545026" "94545026" "subst" "0" "01695" "ABCA4_002143" "g.94545026A>G" "" "{PMID:Chen 2010:20398653}" "" "IVS8,-9,T>C" "segregation analysis done when possible" "Unknown" "" "" "0" "" "" "g.94079470A>G" "" "likely pathogenic (recessive)" ""
"0000774334" "0" "50" "1" "94546096" "94546096" "subst" "4.06583E-6" "01695" "ABCA4_000337" "g.94546096T>G" "" "{PMID:Chen 2010:20398653}" "" "K346T" "segregation analysis done when possible" "Unknown" "" "" "0" "" "" "g.94080540T>G" "" "VUS" ""
"0000774335" "0" "90" "1" "94564418" "94564418" "subst" "0" "01695" "ABCA4_000375" "g.94564418G>A" "" "{PMID:Chen 2010:20398653}" "" "Q234X" "segregation analysis done when possible" "Unknown" "" "" "0" "" "" "g.94098862G>A" "" "pathogenic (recessive)" ""
"0000774336" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Chen 2010:20398653}" "" "L2027F" "segregation analysis done when possible" "Unknown" "" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic (recessive)" ""
"0000774337" "0" "50" "1" "94543389" "94543389" "subst" "0.000861235" "01695" "ABCA4_000312" "g.94543389C>T" "" "{PMID:Chen 2010:20398653}" "" "E471K" "segregation analysis done when possible" "Unknown" "" "" "0" "" "" "g.94077833C>T" "" "VUS" ""
"0000774338" "0" "10" "1" "94461717" "94461717" "subst" "0.0703199" "01695" "ABCA4_000003" "g.94461717C>A" "" "{PMID:Chen 2010:20398653}" "" "S2255I" "segregation analysis done when possible" "Unknown" "" "" "0" "" "" "g.93996161C>A" "" "benign" ""
"0000774339" "0" "10" "1" "94461717" "94461717" "subst" "0.0703199" "01695" "ABCA4_000003" "g.94461717C>A" "" "{PMID:Chen 2010:20398653}" "" "S2255I" "segregation analysis done when possible" "Unknown" "" "" "0" "" "" "g.93996161C>A" "" "benign" ""
"0000774340" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Chen 2010:20398653}" "" "G1961E" "segregation analysis done when possible" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000774341" "0" "70" "1" "94490567" "94490567" "subst" "5.68528E-5" "01695" "ABCA4_000026" "g.94490567G>A" "" "{PMID:Chen 2010:20398653}" "" "T1526M" "segregation analysis done when possible" "Unknown" "" "" "0" "" "" "g.94025011G>A" "" "likely pathogenic (recessive)" ""
"0000774342" "0" "50" "1" "94564462" "94564462" "subst" "4.06775E-5" "01695" "ABCA4_000380" "g.94564462C>G" "" "{PMID:Chen 2010:20398653}" "" "R219T" "segregation analysis done when possible" "Unknown" "" "" "0" "" "" "g.94098906C>G" "" "VUS" ""
"0000774343" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Chen 2010:20398653}" "" "L2027F" "segregation analysis done when possible" "Unknown" "" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic (recessive)" ""
"0000774344" "0" "50" "1" "94543389" "94543389" "subst" "0.000861235" "01695" "ABCA4_000312" "g.94543389C>T" "" "{PMID:Chen 2010:20398653}" "" "E471K" "segregation analysis done when possible" "Unknown" "" "" "0" "" "" "g.94077833C>T" "" "VUS" ""
"0000774345" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Chen 2010:20398653}" "" "L541P/A1038V" "no variant 2nd chromosome; segregation analysis done when possible" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000774346" "0" "70" "1" "94517225" "94517225" "subst" "0" "01695" "ABCA4_002002" "g.94517225A>T" "" "{PMID:Chen 2010:20398653}" "" "F873I" "segregation analysis done when possible" "Unknown" "" "" "0" "" "" "g.94051669A>T" "" "likely pathogenic (recessive)" ""
"0000774347" "0" "90" "1" "94473790" "94473790" "subst" "0" "01695" "ABCA4_000399" "g.94473790C>T" "" "{PMID:Chen 2010:20398653}" "" "IVS42+1,G>A" "segregation analysis done when possible" "Unknown" "" "" "0" "" "" "g.94008234C>T" "" "pathogenic (recessive)" ""
"0000774348" "0" "90" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Chen 2010:20398653}" "" "R2107H" "segregation analysis done when possible" "Unknown" "" "" "0" "" "" "g.94001068C>T" "" "pathogenic (recessive)" ""
"0000774349" "0" "10" "1" "94461717" "94461717" "subst" "0.0703199" "01695" "ABCA4_000003" "g.94461717C>A" "" "{PMID:Chen 2010:20398653}" "" "S2255I" "segregation analysis done when possible" "Unknown" "" "" "0" "" "" "g.93996161C>A" "" "benign" ""
"0000774350" "0" "50" "1" "94480146" "94480146" "subst" "2.84273E-5" "01695" "ABCA4_000122" "g.94480146T>C" "" "{PMID:Chen 2010:20398653}" "" "N1805D" "segregation analysis done when possible" "Unknown" "" "" "0" "" "" "g.94014590T>C" "" "VUS" ""
"0000774351" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Chen 2010:20398653}" "" "L541P/A1038V" "segregation analysis done when possible" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000774352" "0" "70" "1" "94471055" "94471055" "subst" "0.00035346" "01695" "ABCA4_000029" "g.94471055C>T" "" "{PMID:Chen 2010:20398653}" "" "R2030Q" "segregation analysis done when possible" "Unknown" "" "" "0" "" "" "g.94005499C>T" "" "likely pathogenic (recessive)" ""
"0000774353" "0" "90" "1" "94467530" "94467530" "subst" "0" "01695" "ABCA4_001448" "g.94467530T>A" "" "{PMID:Anastasakis 2011:21293320}" "" "Arg1898his & Lys2056stop" "" "Unknown" "" "" "0" "" "" "g.94001974T>A" "" "pathogenic (recessive)" ""
"0000774354" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Anastasakis 2011:21293320}" "" "Leu514Pro & Ala1038Val" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000774355" "0" "70" "1" "94577102" "94577102" "subst" "4.06161E-6" "01695" "ABCA4_000033" "g.94577102C>T" "" "{PMID:Anastasakis 2011:21293320}" "" "Gly1961Glu & Gly65Glu" "" "Unknown" "" "" "0" "" "" "g.94111546C>T" "" "likely pathogenic (recessive)" ""
"0000774356" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Burke 2011:21873672}" "" "G1961E" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000774357" "0" "70" "1" "94496547" "94496547" "subst" "4.06345E-6" "01695" "ABCA4_000559" "g.94496547C>A" "" "{PMID:Burke 2011:21873672}" "" "IVS28+5G>T" "" "Unknown" "" "" "0" "" "" "g.94030991C>A" "" "likely pathogenic (recessive)" ""
"0000774358" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Burke 2011:21873672}" "" "L541P/A1038V" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000774359" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Burke 2011:21873672}" "" "G1961E" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000774360" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Burke 2011:21873672}" "" "L541P/A1038V" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000774361" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Burke 2011:21873672}" "" "G1961E" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000774362" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Burke 2011:21873672}" "" "L541P/A1038V" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000774363" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Burke 2011:21873672}" "" "G1961E" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000774364" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Burke 2011:21873672}" "" "L541P/A1038V" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000774365" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Burke 2011:21873672}" "" "G1961E" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000774366" "0" "70" "1" "94520702" "94520702" "subst" "0" "01695" "ABCA4_000713" "g.94520702C>T" "" "{PMID:Burke 2011:21873672}" "" "G851D" "" "Unknown" "" "" "0" "" "" "g.94055146C>T" "" "likely pathogenic (recessive)" ""
"0000774367" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Burke 2011:21873672}" "" "G1961E" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000774368" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Burke 2011:21873672}" "" "L541P/A1038V" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000774369" "0" "70" "1" "94476865" "94476865" "subst" "2.03107E-5" "01695" "ABCA4_000430" "g.94476865A>G" "" "{PMID:Burke 2011:21873672}" "" "I1846T" "" "Unknown" "" "" "0" "" "" "g.94011309A>G" "" "likely pathogenic (recessive)" ""
"0000774370" "0" "70" "1" "94485247" "94485247" "subst" "4.07647E-5" "01695" "ABCA4_000475" "g.94485247C>T" "" "{PMID:Burke 2011:21873672}" "" "S1696N" "" "Unknown" "" "" "0" "" "" "g.94019691C>T" "" "likely pathogenic (recessive)" ""
"0000774371" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Burke 2011:21873672}" "" "P1380L" "" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000774372" "0" "90" "1" "94574257" "94574257" "subst" "0" "01695" "ABCA4_000218" "g.94574257A>C" "" "{PMID:Burke 2011:21873672}" "" "Y106X" "" "Unknown" "" "" "0" "" "" "g.94108701A>C" "" "pathogenic (recessive)" ""
"0000774373" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Burke 2011:21873672}" "" "IVS40+5G>A" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000774374" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Burke 2011:21873672}" "" "L541P/A1038V" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000774375" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Burke 2011:21873672}" "" "G1961E" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000774376" "0" "70" "1" "94467467" "94467467" "subst" "4.06164E-6" "01695" "ABCA4_000780" "g.94467467G>A" "" "{PMID:Burke 2011:21873672}" "" "R2077W" "" "Unknown" "" "" "0" "" "" "g.94001911G>A" "" "likely pathogenic (recessive)" ""
"0000774377" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Burke 2011:21873672}" "" "A1038V" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000774378" "0" "70" "1" "94466422" "94466422" "subst" "2.43651E-5" "01695" "ABCA4_000817" "g.94466422C>T" "" "{PMID:Burke 2011:21873672}" "" "C2150Y" "" "Unknown" "" "" "0" "" "" "g.94000866C>T" "" "likely pathogenic (recessive)" ""
"0000774379" "0" "70" "1" "94476424" "94476424" "subst" "2.43694E-5" "01695" "ABCA4_000418" "g.94476424C>T" "" "{PMID:Burke 2011:21873672}" "" "M18821" "" "Unknown" "" "" "0" "" "" "g.94010868C>T" "" "likely pathogenic (recessive)" ""
"0000774380" "0" "50" "1" "94485257" "94485257" "subst" "0.00017945" "01695" "ABCA4_000100" "g.94485257C>T" "" "{PMID:Burke 2011:21873672}" "" "V1693I" "" "Unknown" "" "" "0" "" "" "g.94019701C>T" "" "VUS" ""
"0000774381" "0" "70" "1" "94486896" "94486896" "subst" "3.65562E-5" "01695" "ABCA4_000085" "g.94486896G>A" "" "{PMID:Cukras 2012:21987580}" "" "c. 4918 C>T" "" "Unknown" "" "" "0" "" "" "g.94021340G>A" "" "likely pathogenic (recessive)" ""
"0000774382" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Park 2012:22060670}" "" "G1961E" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000774383" "2" "70" "1" "94520793" "94520793" "subst" "8.13292E-6" "01695" "ABCA4_000723" "g.94520793A>T" "" "{PMID:Cideciyan 2012:22247458}{PMID:Cideciyan 2015:26377081}" "" "W821R" "" "Unknown" "yes" "" "0" "" "" "g.94055237A>T" "" "likely pathogenic (recessive)" ""
"0000774384" "2" "70" "1" "94496547" "94496547" "subst" "4.06345E-6" "01695" "ABCA4_000559" "g.94496547C>A" "" "{PMID:Cideciyan 2012:22247458}{PMID:Huang 2014:24550365}" "" "IVS28_x005F_x0003_5G_x005F_x0004_T" "" "Unknown" "yes" "" "0" "" "" "g.94030991C>A" "" "likely pathogenic (recessive)" ""
"0000774385" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Cideciyan 2012:22247458}" "" "R1129L" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000774386" "2" "70" "1" "94577093" "94577093" "subst" "0" "01695" "ABCA4_000178" "g.94577093G>C" "" "{PMID:Cideciyan 2012:22247458}" "" "P68R" "" "Unknown" "yes" "" "0" "" "" "g.94111537G>C" "" "likely pathogenic (recessive)" ""
"0000774387" "2" "50" "1" "94485220" "94485220" "subst" "0.000106324" "01695" "ABCA4_000121" "g.94485220C>T" "" "{PMID:Cideciyan 2012:22247458}" "" "R1705Q" "" "Unknown" "yes" "" "0" "" "" "g.94019664C>T" "" "VUS" ""
"0000774388" "2" "70" "1" "94496547" "94496547" "subst" "4.06345E-6" "01695" "ABCA4_000559" "g.94496547C>A" "" "{PMID:Cideciyan 2012:22247458}" "" "IVS28_x005F_x0003_5G_x005F_x0004_T" "" "Unknown" "yes" "" "0" "" "" "g.94030991C>A" "" "likely pathogenic (recessive)" ""
"0000774389" "2" "70" "1" "94520793" "94520793" "subst" "8.13292E-6" "01695" "ABCA4_000723" "g.94520793A>T" "" "{PMID:Cideciyan 2012:22247458}{PMID:Cideciyan 2015:26377081}" "" "W821R" "" "Unknown" "yes" "" "0" "" "" "g.94055237A>T" "" "likely pathogenic (recessive)" ""
"0000774390" "2" "90" "1" "94486794" "94486794" "subst" "0" "01695" "ABCA4_000478" "g.94486794A>G" "" "{PMID:Cideciyan 2012:22247458}" "" "IVS35_x005F_x0003_2T_x005F_x0004_C" "" "Unknown" "yes" "" "0" "" "" "g.94021238A>G" "" "pathogenic (recessive)" ""
"0000774391" "0" "70" "1" "94486836" "94486836" "subst" "8.12255E-6" "01695" "ABCA4_001739" "g.94486836G>A" "" "{PMID:Cideciyan 2012:22247458}" "" "P1660S" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94021280G>A" "" "likely pathogenic (recessive)" ""
"0000774392" "2" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Cideciyan 2012:22247458}" "" "A1038V/L541P" "" "Unknown" "yes" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000774393" "2" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Cideciyan 2012:22247458}" "" "A1038V/L541P" "" "Unknown" "yes" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000774394" "2" "70" "1" "94548907" "94548998" "" "0" "01695" "ABCA4_002593" "g.(94546275_94548907)_(94548998_94564349)del" "" "{PMID:Cideciyan 2012:22247458}" "" "deletion of exon 7" "" "Unknown" "yes" "" "0" "" "" "g.(94080719_94083351)_(94083442_94098793)del" "" "likely pathogenic (recessive)" ""
"0000774395" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Cideciyan 2012:22247458}" "" "A1038V/L541P" "no variant 2nd chromosome" "Unknown" "yes" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000774396" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Thiadens 2012:22264887}" "" "c.5461-10T>C splice defect" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000774397" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Thiadens 2012:22264887}" "" "c.2588G>C p.G863A" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000774398" "0" "50" "1" "94480256" "94480256" "subst" "0" "01695" "ABCA4_001703" "g.94480256A>G" "" "{PMID:Thiadens 2012:22264887}" "" "c.5313-10T>C splice defect" "" "Unknown" "" "" "0" "" "" "g.94014700A>G" "" "VUS" ""
"0000774399" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Thiadens 2012:22264887}" "" "c.768G>T p.V256V / splice defect" "" "Unknown" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000774400" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Thiadens 2012:22264887}" "" "c.768G>T p.V256V / splice defect" "" "Unknown" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000774401" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Thiadens 2012:22264887}" "" "c.5882G>A p.G1961E" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000774402" "0" "90" "1" "94474381" "94474382" "dup" "0" "01695" "ABCA4_000409" "g.94474381_94474382dup" "" "{PMID:Thiadens 2012:22264887}" "" "c.5762_5763dup p.A1922WfsX18" "" "Unknown" "" "" "0" "" "" "g.94008825_94008826dup" "" "pathogenic (recessive)" ""
"0000774403" "0" "70" "1" "94466422" "94466422" "subst" "2.43651E-5" "01695" "ABCA4_000817" "g.94466422C>T" "" "{PMID:Thiadens 2012:22264887}" "" "c.6449G>A p.C2150Y" "" "Unknown" "" "" "0" "" "" "g.94000866C>T" "" "likely pathogenic (recessive)" ""
"0000774404" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Leng 2012:22466470}" "" "c.5882G.A (p.Gly1961Glu)" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000774405" "0" "90" "1" "94471056" "94471056" "subst" "2.84398E-5" "01695" "ABCA4_000050" "g.94471056G>A" "" "{PMID:Giani 2012:22589445}" "" "c.6088C >T (p.Arg2030term)" "" "Unknown" "" "" "0" "" "" "g.94005500G>A" "" "pathogenic (recessive)" ""
"0000774406" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Giani 2012:22589445}" "" "c.2588G > C (p.Gly863Ala)" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000774407" "0" "90" "1" "94508316" "94508316" "subst" "0" "01695" "ABCA4_000053" "g.94508316C>G" "" "{PMID:Burton 2013:23329737}" "" "c.3328+1G>C" "" "Unknown" "" "" "0" "" "" "g.94042760C>G" "" "pathogenic (recessive)" ""
"0000774408" "0" "90" "1" "94508316" "94508316" "subst" "0" "01695" "ABCA4_000053" "g.94508316C>G" "" "{PMID:Burton 2013:23329737}" "" "c.3328+1G>C" "" "Unknown" "" "" "0" "" "" "g.94042760C>G" "" "pathogenic (recessive)" ""
"0000774409" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Utz 2013:24011517}" "" "c.3322C>T (p.R1108C)" "" "Unknown" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000774410" "0" "90" "1" "94495009" "94495009" "del" "0" "01695" "ABCA4_000534" "g.94495009del" "" "{PMID:Utz 2013:24011517}" "" "c.4537delC (p.Q1513fsX1525)" "" "Unknown" "" "" "0" "" "" "g.94029453del" "" "pathogenic (recessive)" ""
"0000774411" "0" "50" "1" "94485257" "94485257" "subst" "0.00017945" "01695" "ABCA4_000100" "g.94485257C>T" "" "{PMID:Utz 2013:24011517}" "" "c.5077G>A (p.V1693I)" "" "Unknown" "" "" "0" "" "" "g.94019701C>T" "" "VUS" ""
"0000774412" "0" "30" "1" "94564500" "94564500" "subst" "0.000643469" "01695" "ABCA4_002189" "g.94564500G>A" "" "{PMID:Utz 2013:24011517}" "" "c.618C>T (p.S207S)" "" "Unknown" "" "" "0" "" "" "g.94098944G>A" "" "likely benign" ""
"0000774413" "0" "50" "1" "94520708" "94520708" "subst" "0.00102774" "01695" "ABCA4_000074" "g.94520708A>G" "" "{PMID:Utz 2013:24011517}" "" "c.2546T>C (p.V849A)" "" "Unknown" "" "" "0" "" "" "g.94055152A>G" "" "VUS" ""
"0000774414" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Utz 2013:24011517}" "" "c.3113C>T (p.A1038V)" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000774415" "0" "90" "1" "94528132" "94528132" "subst" "0" "01695" "ABCA4_002066" "g.94528132C>G" "" "{PMID:Utz 2013:24011517}" "" "c.1937+1G>C (N/A)" "" "Unknown" "" "" "0" "" "" "g.94062576C>G" "" "pathogenic (recessive)" ""
"0000774416" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Utz 2013:24011517}" "" "c.IVS38-10T>C (N/A)" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000774417" "0" "70" "1" "94577122" "94577122" "subst" "0" "01695" "ABCA4_000175" "g.94577122G>C" "" "{PMID:Utz 2013:24011517}" "" "c.174C>G (p.N58K)" "" "Unknown" "" "" "0" "" "" "g.94111566G>C" "" "likely pathogenic (recessive)" ""
"0000774418" "0" "90" "1" "94466658" "94466658" "subst" "8.14817E-6" "01695" "ABCA4_000132" "g.94466658C>T" "" "{PMID:Utz 2013:24011517}" "" "c.6286G>A (p.E2096K)" "" "Unknown" "" "" "0" "" "" "g.94001102C>T" "" "pathogenic (recessive)" ""
"0000774419" "0" "70" "1" "94495177" "94495177" "subst" "1.22342E-5" "01695" "ABCA4_000023" "g.94495177A>G" "" "{PMID:Fujinami 2014:24020726}" "" "c.4363T > C, p.C1455R" "" "Unknown" "" "" "0" "" "" "g.94029621A>G" "" "likely pathogenic (recessive)" ""
"0000774420" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Fujinami 2014:24020726}" "" "c.5461-10 T > C" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000774421" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Duncker 2013:24071957}" "" "p.[L541P;A1038V]" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000774422" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Duncker 2013:24071957}" "" "p.L2027F" "" "Unknown" "" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic (recessive)" ""
"0000774423" "0" "50" "1" "94485278" "94485278" "subst" "0.000487317" "01695" "ABCA4_000101" "g.94485278C>T" "" "{PMID:Duncker 2013:24071957}" "" "p.V1686M" "" "Unknown" "" "" "0" "" "" "g.94019722C>T" "" "VUS" ""
"0000774424" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Duncker 2013:24071957}" "" "p.P1380L" "" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000774425" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Duncker 2013:24071957}{PMID:Lee 2017:28327576}" "" "p.G1961E" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000774426" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Duncker 2013:24071957}" "" "p.G1961E" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000774427" "0" "70" "1" "94543262" "94543262" "subst" "1.22307E-5" "01695" "ABCA4_002114" "g.94543262A>G" "" "{PMID:Huynh 2014:24397708}" "" "L1201R (c.3602 T>G)" "" "Unknown" "" "" "0" "" "" "g.94077706A>G" "" "likely pathogenic (recessive)" ""
"0000774428" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Verdina 2012:24409374}" "" "c.4139C>T (p.Pro1380Leu)" "" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000774429" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Verdina 2012:24409374}" "" "c.1622T>C (p.Leu541Pro)/c.3113C>T (p.Ala1038Val)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000774430" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Verdina 2012:24409374}" "" "c.1622T>C (p.Leu541Pro)/c.3113C>T (p.Ala1038Val)" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000774431" "0" "90" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Verdina 2012:24409374}" "" "c.6320G>A (p.Arg2107His)" "" "Unknown" "" "" "0" "" "" "g.94001068C>T" "" "pathogenic (recessive)" ""
"0000774432" "0" "70" "1" "94476875" "94476875" "subst" "1.62489E-5" "01695" "ABCA4_001280" "g.94476875G>A" "" "{PMID:Verdina 2012:24409374}" "" "c.5527C>T (p.Arg1843Trp);" "" "Unknown" "" "" "0" "" "" "g.94011319G>A" "" "likely pathogenic (recessive)" ""
"0000774433" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Verdina 2012:24409374}" "" "c.6079C>T (p.Leu2027Phe)" "" "Unknown" "" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic (recessive)" ""
"0000774434" "0" "50" "1" "94496039" "94496039" "subst" "0.00157963" "01695" "ABCA4_000552" "g.94496039C>T" "" "{PMID:Verdina 2012:24409374}" "" "c.4297G>A (p.Val1433Ile)" "" "Unknown" "" "" "0" "" "" "g.94030483C>T" "" "VUS" ""
"0000774435" "0" "70" "1" "94485247" "94485247" "subst" "4.07647E-5" "01695" "ABCA4_000475" "g.94485247C>T" "" "{PMID:Verdina 2012:24409374}" "" "c.5087G>A (p.Ser1696Asn)" "" "Unknown" "" "" "0" "" "" "g.94019691C>T" "" "likely pathogenic (recessive)" ""
"0000774436" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Verdina 2012:24409374}" "" "c.5714+5G>A" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000774437" "0" "70" "1" "94473266" "94473266" "subst" "8.14677E-6" "01695" "ABCA4_000389" "g.94473266C>T" "" "{PMID:Verdina 2012:24409374}" "" "c.5929G>A (p.Gly1977Ser)" "" "Unknown" "" "" "0" "" "" "g.94007710C>T" "" "likely pathogenic (recessive)" ""
"0000774438" "0" "90" "1" "94564549" "94564549" "subst" "0" "01695" "ABCA4_000199" "g.94564549T>A" "" "{PMID:Verdina 2012:24409374}" "" "c.571?2A>T" "" "Unknown" "" "" "0" "" "" "g.94098993T>A" "" "pathogenic (recessive)" ""
"0000774439" "10" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Singh 2014:24428930}" "" "(p.L541P/p.A1038V)" "" "Unknown" "yes" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000774440" "21" "70" "1" "94520823" "94520823" "subst" "6.91822E-5" "01695" "ABCA4_002029" "g.94520823G>A" "" "{PMID:Singh 2014:24428930}" "" "(p.R881C)" "" "Unknown" "yes" "" "0" "" "" "g.94055267G>A" "" "likely pathogenic (recessive)" ""
"0000774441" "10" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Singh 2014:24428930}" "" "(p.L541P/p.A1038V)" "no variant 2nd chromosome" "Unknown" "yes" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000774442" "3" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Serapinas 2013:24509150}" "" "(c.3113C>T; A1038V)" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000774443" "3" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Serapinas 2013:24509150}" "" "(c.1622T>C;L541P)" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000774444" "3" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Serapinas 2013:24509150}" "" "(c.3113C>T; A1038V)" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000774445" "0" "70" "1" "94528248" "94528248" "subst" "1.22148E-5" "01695" "ABCA4_000279" "g.94528248A>T" "" "{PMID:Huang 2014:24550365}" "" "F608I" "" "Unknown" "" "" "0" "" "" "g.94062692A>T" "" "likely pathogenic (recessive)" ""
"0000774446" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Huang 2014:24550365}" "" "IVS38-10T>C" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000774447" "0" "90" "1" "94485159" "94485159" "dup" "0" "01695" "ABCA4_001453" "g.94485159dup" "" "{PMID:Huang 2014:24550365}" "" "c.5174_5175insG" "" "Unknown" "" "" "0" "" "" "g.94019603dup" "" "pathogenic (recessive)" ""
"0000774448" "0" "70" "1" "94577093" "94577093" "subst" "8.12394E-6" "01695" "ABCA4_000147" "g.94577093G>A" "" "{PMID:Huang 2014:24550365}{PMID:Cideciyan 2015:26377081}" "" "G1961E/P68L" "" "Unknown" "yes" "" "0" "" "" "g.94111537G>A" "" "likely pathogenic (recessive)" ""
"0000774449" "0" "70" "1" "94577093" "94577093" "subst" "8.12394E-6" "01695" "ABCA4_000147" "g.94577093G>A" "" "{PMID:Huang 2014:24550365}{PMID:Cideciyan 2015:26377081}" "" "G1961E/P68L" "" "Unknown" "yes" "" "0" "" "" "g.94111537G>A" "" "likely pathogenic (recessive)" ""
"0000774450" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Huang 2014:24550365}" "" "A1038V/L541P" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000774451" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Huang 2014:24550365}" "" "A1038V/L541P" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000774452" "0" "70" "1" "94548907" "94548998" "" "0" "01695" "ABCA4_002593" "g.(94546275_94548907)_(94548998_94564349)del" "" "{PMID:Huang 2014:24550365}" "" "Deletion of exon 7" "" "Unknown" "" "" "0" "" "" "g.(94080719_94083351)_(94083442_94098793)del" "" "likely pathogenic (recessive)" ""
"0000774453" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Huang 2014:24550365}" "" "IVS40+5G>A" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000774454" "11" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Jonsson 2014:24664696}" "" "c.5461-10T>C" "" "Unknown" "yes" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000774455" "0" "90" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Bertelsen 2014:24713488}" "" "c.2894A>G p.N965S" "" "Unknown" "" "" "0" "" "" "g.94046943T>C" "" "pathogenic (recessive)" ""
"0000774456" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Bertelsen 2014:24713488}" "" "c.5461-10T>C -" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000774457" "0" "70" "1" "94485279" "94485293" "del" "0" "01695" "ABCA4_000476" "g.94485279_94485293del" "" "{PMID:Bertelsen 2014:24713488}" "" "c.5041_5055del p.V1681_C1685del" "" "Unknown" "" "" "0" "" "" "g.94019723_94019737del" "" "likely pathogenic (recessive)" ""
"0000774458" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Bertelsen 2014:24713488}" "" "c.6079C>T p.L2027F" "" "Unknown" "" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic (recessive)" ""
"0000774459" "0" "90" "1" "94496571" "94496571" "subst" "4.06174E-6" "01695" "ABCA4_000111" "g.94496571G>A" "" "{PMID:Bertelsen 2014:24713488}" "" "c.4234C>T p.Q1412*" "" "Unknown" "" "" "0" "" "" "g.94031015G>A" "" "pathogenic (recessive)" ""
"0000774460" "0" "90" "1" "94496571" "94496571" "subst" "4.06174E-6" "01695" "ABCA4_000111" "g.94496571G>A" "" "{PMID:Bertelsen 2014:24713488}" "" "c.4234C>T p.Q1412*" "" "Unknown" "" "" "0" "" "" "g.94031015G>A" "" "pathogenic (recessive)" ""
"0000774461" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Bertelsen 2014:24713488}" "" "c.3322C>T p.R1108C" "" "Unknown" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000774462" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Bertelsen 2014:24713488}" "" "c.3113C>T p.L541P/A1038V" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000774463" "0" "90" "1" "94506960" "94506960" "subst" "0" "01695" "ABCA4_000629" "g.94506960T>C" "" "{PMID:Bertelsen 2014:24713488}" "" "c.3329-2A>G Aberrant splicing" "" "Unknown" "" "" "0" "" "" "g.94041404T>C" "" "pathogenic (recessive)" ""
"0000774464" "0" "90" "1" "94488940" "94488940" "subst" "0" "01695" "ABCA4_000511" "g.94488940A>G" "" "{PMID:Bertelsen 2014:24713488}" "" "c.4667+2T>C Aberrant splicing" "" "Unknown" "" "" "0" "" "" "g.94023384A>G" "" "pathogenic (recessive)" ""
"0000774465" "0" "70" "1" "94471055" "94471055" "subst" "0.00035346" "01695" "ABCA4_000029" "g.94471055C>T" "" "{PMID:Bertelsen 2014:24713488}" "" "c.6089G>A p.R2030Q" "" "Unknown" "" "" "0" "" "" "g.94005499C>T" "" "likely pathogenic (recessive)" ""
"0000774466" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Bertelsen 2014:24713488}" "" "c.2588G>C p.G863A" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000774467" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Bertelsen 2014:24713488}" "" "c.5461-10T>C -" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000774469" "0" "90" "1" "94473278" "94473278" "del" "3.25908E-5" "01695" "ABCA4_000392" "g.94473278del" "" "{PMID:Sisk 2014:24743636}" "" "Val1973del1ggaG" "" "Unknown" "" "" "0" "" "" "g.94007722del" "" "pathogenic (recessive)" ""
"0000774470" "0" "10" "1" "94497563" "94497563" "subst" "0.00492504" "01695" "ABCA4_000090" "g.94497563C>T" "" "{PMID:Sisk 2014:24743636}" "" "p.Arg1300Gls c3899G>A" "" "Unknown" "" "" "0" "" "" "g.94032007C>T" "" "benign" ""
"0000774471" "0" "90" "1" "94510248" "94510248" "subst" "0.000544123" "01695" "ABCA4_000107" "g.94510248C>G" "" "{PMID:Sisk 2014:24743636}" "" "pGly991Arg c2971 G . C" "" "Unknown" "" "" "0" "" "" "g.94044692C>G" "" "pathogenic (recessive)" ""
"0000774472" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Sisk 2014:24743636}" "" "Gly863Ala" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000774473" "0" "70" "1" "94466422" "94466422" "subst" "2.43651E-5" "01695" "ABCA4_000817" "g.94466422C>T" "" "{PMID:Sisk 2014:24743636}" "" "Cys2150Tyr" "" "Unknown" "" "" "0" "" "" "g.94000866C>T" "" "likely pathogenic (recessive)" ""
"0000774474" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Sisk 2014:24743636}" "" "Gly863Ala" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000774475" "0" "70" "1" "94466422" "94466422" "subst" "2.43651E-5" "01695" "ABCA4_000817" "g.94466422C>T" "" "{PMID:Sisk 2014:24743636}" "" "Cys2150Tyr" "" "Unknown" "" "" "0" "" "" "g.94000866C>T" "" "likely pathogenic (recessive)" ""
"0000774476" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Sisk 2014:24743636}" "" "IVS40+5G>A" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000774477" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Sisk 2014:24743636}" "" "IVS40+5G>A" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000774478" "21" "90" "1" "94497333" "94497333" "subst" "0" "01695" "ABCA4_001847" "g.94497333C>A" "" "{PMID:Zhang 2014:24763286}" "" "c.4128+1G>T" "" "Unknown" "" "" "0" "" "" "g.94031777C>A" "" "pathogenic (recessive)" ""
"0000774479" "21" "90" "1" "94497333" "94497333" "subst" "0" "01695" "ABCA4_001847" "g.94497333C>A" "" "{PMID:Zhang 2014:24763286}" "" "c.4128+1G>T" "" "Unknown" "" "" "0" "" "" "g.94031777C>A" "" "pathogenic (recessive)" ""
"0000774480" "21" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Zhang 2014:24763286}" "" "c.1804C>T" "" "Unknown" "" "" "0" "" "" "g.94062710G>A" "" "pathogenic (recessive)" ""
"0000774481" "21" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Zhang 2014:24763286}" "" "c.1804C>T" "" "Unknown" "" "" "0" "" "" "g.94062710G>A" "" "pathogenic (recessive)" ""
"0000774482" "21" "70" "1" "94506867" "94506867" "subst" "0" "01695" "ABCA4_001296" "g.94506867G>C" "" "{PMID:Zhang 2014:24763286}" "" "c.3420C>G" "" "Unknown" "" "" "0" "" "" "g.94041311G>C" "" "likely pathogenic (recessive)" ""
"0000774483" "3" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Watson 2014:25133751}" "" "NM_000350.2:c.5882G.A p.Gly1961Glu" "" "Unknown" "yes" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000774484" "3" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Watson 2014:25133751}" "" "NM_000350.2:c.5882G.A p.Gly1961Glu" "" "Unknown" "yes" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000774485" "3" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Watson 2014:25133751}" "" "NM_000350.2:c.5882G.A p.Gly1961Glu" "" "Unknown" "yes" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000774486" "2" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Lee 2014:25139735}" "" "c.5714+5G>A" "" "Unknown" "yes" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000774487" "2" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Lee 2014:25139735}" "" "c.5714+5G>A" "" "Unknown" "yes" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000774488" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Lee 2014:25139735}" "" "p.[L541P;A1038V]" "" "Unknown" "yes" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000774489" "2" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Lee 2014:25139735}" "" "p.L2027F" "" "Unknown" "yes" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic (recessive)" ""
"0000774490" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Lee 2014:25139735}" "" "p.[L541P;A1038V]" "" "Unknown" "yes" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000774491" "2" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Lee 2014:25139735}" "" "p.L2027F" "" "Unknown" "yes" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic (recessive)" ""
"0000774492" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Lee 2014:25139735}" "" "p.[L541P;A1038V]" "" "Unknown" "yes" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000774493" "2" "70" "1" "94486896" "94486896" "subst" "3.65562E-5" "01695" "ABCA4_000085" "g.94486896G>A" "" "{PMID:Lee 2014:25139735}" "" "p.R1640W" "" "Unknown" "yes" "" "0" "" "" "g.94021340G>A" "" "likely pathogenic (recessive)" ""
"0000774494" "2" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Lee 2014:25139735}" "" "p.G1961E" "" "Unknown" "yes" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000774495" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Lee 2014:25139735}" "" "p.[L541P;A1038V]" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000774496" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Lee 2014:25139735}" "" "p.L2027F" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic (recessive)" ""
"0000774497" "2" "70" "1" "94496583" "94496583" "subst" "2.03092E-5" "01695" "ABCA4_000190" "g.94496583A>G" "" "{PMID:Lee 2014:25139735}" "" "p.[W1408R;R1640W]" "" "Unknown" "yes" "" "0" "" "" "g.94031027A>G" "" "likely pathogenic (recessive)" ""
"0000774498" "2" "70" "1" "94486896" "94486896" "subst" "3.65562E-5" "01695" "ABCA4_000085" "g.94486896G>A" "" "{PMID:Lee 2014:25139735}" "" "p.[W1408R;R1640W]" "" "Unknown" "yes" "" "0" "" "" "g.94021340G>A" "" "likely pathogenic (recessive)" ""
"0000774499" "2" "70" "1" "94466422" "94466422" "subst" "2.43651E-5" "01695" "ABCA4_000817" "g.94466422C>T" "" "{PMID:Lee 2014:25139735}" "" "p.C2150Y" "" "Unknown" "yes" "" "0" "" "" "g.94000866C>T" "" "likely pathogenic (recessive)" ""
"0000774500" "2" "70" "1" "94528819" "94528819" "subst" "2.03128E-5" "01695" "ABCA4_000078" "g.94528819G>A" "" "{PMID:Lee 2014:25139735}" "" "p.R537C" "" "Unknown" "yes" "" "0" "" "" "g.94063263G>A" "" "likely pathogenic (recessive)" ""
"0000774501" "2" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Lee 2014:25139735}" "" "p.G1961E" "" "Unknown" "yes" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000774502" "0" "90" "1" "94466556" "94466556" "subst" "4.06164E-6" "01695" "ABCA4_000831" "g.94466556G>C" "" "{PMID:Bonilha 2014:25265374}{PMID:Edwards 2020:32692840}" "" "IVS46 + 2 C>G" "" "Unknown" "" "" "0" "" "" "g.94001000G>C" "" "pathogenic (recessive)" ""
"0000774503" "2" "90" "1" "94471056" "94471056" "subst" "2.84398E-5" "01695" "ABCA4_000050" "g.94471056G>A" "" "{PMID:Fujinami 2015:25312043}" "" "p.[Arg653Cys];[Arg2030*]" "" "Unknown" "yes" "" "0" "" "" "g.94005500G>A" "" "pathogenic (recessive)" ""
"0000774504" "2" "90" "1" "94485137" "94485137" "subst" "0" "01695" "ABCA4_000464" "g.94485137C>T" "" "{PMID:Fujinami 2015:25312043}" "" "p.[Arg1097*];c.[5196+1G>A]" "" "Unknown" "yes" "" "0" "" "" "g.94019581C>T" "" "pathogenic (recessive)" ""
"0000774505" "2" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Fujinami 2015:25312043}" "" "p.[Arg212Cys];c.[5461-10T>C]" "" "Unknown" "yes" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000774506" "2" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Fujinami 2015:25312043}" "" "p.[Cys1490Tyr];c.[5461-10T>C]" "" "Unknown" "yes" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000774507" "2" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Fujinami 2015:25312043}" "" "p.[Glu1087Lys];c.[5461-10T>C]" "" "Unknown" "yes" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000774508" "2" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "" "{PMID:Fujinami 2015:25312043}" "" "p.[Arg1108Cys];[Cys1490Tyr]" "" "Unknown" "yes" "" "0" "" "" "g.94029515C>T" "" "likely pathogenic (recessive)" ""
"0000774509" "2" "70" "1" "94490567" "94490567" "subst" "5.68528E-5" "01695" "ABCA4_000026" "g.94490567G>A" "" "{PMID:Fujinami 2015:25312043}" "" "p.[Arg1108Cys];[Thr1526Met]" "" "Unknown" "yes" "" "0" "" "" "g.94025011G>A" "" "likely pathogenic (recessive)" ""
"0000774510" "2" "70" "1" "94496583" "94496583" "subst" "2.03092E-5" "01695" "ABCA4_000190" "g.94496583A>G" "" "{PMID:Fujinami 2015:25312043}" "" "p.[His1406Tyr];[Trp1408Arg;Arg1640Trp]" "" "Unknown" "yes" "" "0" "" "" "g.94031027A>G" "" "likely pathogenic (recessive)" ""
"0000774511" "2" "70" "1" "94486896" "94486896" "subst" "3.65562E-5" "01695" "ABCA4_000085" "g.94486896G>A" "" "{PMID:Fujinami 2015:25312043}" "" "p.[His1406Tyr];[Trp1408Arg;Arg1640Trp]" "" "Unknown" "yes" "" "0" "" "" "g.94021340G>A" "" "likely pathogenic (recessive)" ""
"0000774512" "2" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Fujinami 2015:25312043}" "" "p.[Tyr954Ser];c.[5461-10T>C]" "" "Unknown" "yes" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000774513" "2" "70" "1" "94495177" "94495177" "subst" "1.22342E-5" "01695" "ABCA4_000023" "g.94495177A>G" "" "{PMID:Fujinami 2015:25312043}" "" "c.[768G>T];p.[Cys1455Arg]" "" "Unknown" "yes" "" "0" "" "" "g.94029621A>G" "" "likely pathogenic (recessive)" ""
"0000774514" "2" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Fujinami 2015:25312043}" "" "p.[Gln636*];c.[5461-10T>C]" "" "Unknown" "yes" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000774515" "2" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Fujinami 2015:25312043}" "" "p.[Gln8fs];c.[5461-10T>C]" "" "Unknown" "yes" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000774516" "2" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Fujinami 2015:25312043}" "" "p.[Trp439*];[Pro1380Leu]" "" "Unknown" "yes" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000774517" "2" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Fujinami 2015:25312043}" "" "c.[5461-10T>C];p.[Leu2027Phe]" "" "Unknown" "yes" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic (recessive)" ""
"0000774518" "2" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Fujinami 2015:25312043}" "" "p.[Cys1455Arg];c.[5714+5G>A]" "" "Unknown" "yes" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000774519" "0" "70" "1" "94506923" "94506923" "subst" "2.43657E-5" "01695" "ABCA4_000012" "g.94506923C>T" "" "{PMID:Fujinami 2015:25312043}" "" "p.[Gly863Ala(;)Glu1122Lys(;)Arg2030*]" "" "Unknown" "" "" "0" "" "" "g.94041367C>T" "" "likely pathogenic (recessive)" ""
"0000774520" "0" "90" "1" "94471056" "94471056" "subst" "2.84398E-5" "01695" "ABCA4_000050" "g.94471056G>A" "" "{PMID:Fujinami 2015:25312043}" "" "p.[Gly863Ala(;)Glu1122Lys(;)Arg2030*]" "" "Unknown" "" "" "0" "" "" "g.94005500G>A" "" "pathogenic (recessive)" ""
"0000774521" "2" "70" "1" "94466422" "94466422" "subst" "2.43651E-5" "01695" "ABCA4_000817" "g.94466422C>T" "" "{PMID:Fujinami 2015:25312043}" "" "p.[Gly550Arg];[Cys2150Tyr]" "" "Unknown" "yes" "" "0" "" "" "g.94000866C>T" "" "likely pathogenic (recessive)" ""
"0000774522" "2" "90" "1" "94485173" "94485174" "del" "0" "01695" "ABCA4_000468" "g.94485173_94485174del" "" "{PMID:Fujinami 2015:25312043}" "" "p.[Gly863Ala];[Thr1721fs]" "" "Unknown" "yes" "" "0" "" "" "g.94019617_94019618del" "" "pathogenic (recessive)" ""
"0000774523" "2" "90" "1" "94520690" "94520690" "subst" "2.03102E-5" "01695" "ABCA4_000149" "g.94520690C>T" "" "{PMID:Fujinami 2015:25312043}" "" "p.[Arg587Lys];[Trp855*]" "" "Unknown" "yes" "" "0" "" "" "g.94055134C>T" "" "pathogenic (recessive)" ""
"0000774524" "2" "90" "1" "94458800" "94458800" "subst" "0" "01695" "ABCA4_001557" "g.94458800T>G" "" "{PMID:Fujinami 2015:25312043}" "" "p.[Gln636*];c.[6817-2A>C]" "" "Unknown" "yes" "" "0" "" "" "g.93993244T>G" "" "pathogenic (recessive)" ""
"0000774525" "2" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Fujinami 2015:25312043}" "" "p.[Thr1019Met];[Gly1961Glu]" "" "Unknown" "yes" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000774526" "2" "70" "1" "94467481" "94467481" "subst" "0" "01695" "ABCA4_001417" "g.94467481C>T" "" "{PMID:Fujinami 2015:25312043}" "" "c.[5018+2T>C];p.[Ser2072Asn]" "" "Unknown" "yes" "" "0" "" "" "g.94001925C>T" "" "likely pathogenic (recessive)" ""
"0000774527" "2" "70" "1" "94463399" "94463413" "del" "0" "01695" "ABCA4_000851" "g.94463399_94463413del" "" "{PMID:Fujinami 2015:25312043}" "" "p.[Gly1961Glu];c.[6729+4_6729+18del]" "" "Unknown" "yes" "" "0" "" "" "g.93997843_93997857del" "" "likely pathogenic (recessive)" ""
"0000774528" "2" "70" "1" "94481299" "94481299" "subst" "0" "01695" "ABCA4_001705" "g.94481299A>C" "" "{PMID:Fujinami 2015:25312043}" "" "p.[Pro1380Leu]; [Tyr1770Asp]" "" "Unknown" "yes" "" "0" "" "" "g.94015743A>C" "" "likely pathogenic (recessive)" ""
"0000774529" "2" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Fujinami 2015:25312043}" "" "p.[Arg653Cys];[Pro1380Leu]" "" "Unknown" "yes" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000774530" "0" "70" "1" "94481391" "94481393" "dup" "0" "01695" "ABCA4_001714" "g.94481391_94481393dup" "" "{PMID:Fujinami 2015:25312043}" "" "p.[Arg511Cys(;)Ala1739dup(;)Gly1961Glu]" "" "Unknown" "" "" "0" "" "" "g.94015835_94015837dup" "" "likely pathogenic (recessive)" ""
"0000774531" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Fujinami 2015:25312043}" "" "p.[Arg511Cys(;)Ala1739dup(;)Gly1961Glu]" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000774532" "2" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "" "{PMID:Fujinami 2015:25312043}" "" "p.[Met1066Arg];[Cys1490Tyr]" "" "Unknown" "yes" "" "0" "" "" "g.94029515C>T" "" "likely pathogenic (recessive)" ""
"0000774533" "2" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Fujinami 2015:25312043}" "" "p.[Asp586Gly];[Gly1961Glu]" "" "Unknown" "yes" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000774534" "2" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Fujinami 2015:25312043}" "" "c.[5461-10T>C];p.[Leu2027Phe]" "" "Unknown" "yes" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic (recessive)" ""
"0000774535" "2" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "" "{PMID:Fujinami 2015:25312043}" "" "p.[Arg1129Cys];[Cys1490Tyr]" "" "Unknown" "yes" "" "0" "" "" "g.94029515C>T" "" "likely pathogenic (recessive)" ""
"0000774536" "0" "90" "1" "94522156" "94522156" "subst" "0" "01695" "ABCA4_000732" "g.94522156C>T" "" "{PMID:Duncker 2014:25342616}" "" "c.2382+1G>A" "" "Unknown" "" "" "0" "" "" "g.94056600C>T" "" "pathogenic (recessive)" ""
"0000774537" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Duncker 2014:25342616}" "" "p.[L541P;A1038V]" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000774538" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Duncker 2014:25342616}" "" "p.[L541P;A1038V]" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000774539" "0" "70" "1" "94463399" "94463413" "del" "0" "01695" "ABCA4_000851" "g.94463399_94463413del" "" "{PMID:Duncker 2014:25342616}" "" "c.6729+4_+18del" "" "Unknown" "" "" "0" "" "" "g.93997843_93997857del" "" "likely pathogenic (recessive)" ""
"0000774540" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Duncker 2014:25342616}" "" "p.P1380L" "" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000774541" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Duncker 2014:25342616}" "" "p.[L541P;A1038V]" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000774542" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Duncker 2014:25342616}" "" "p.[L541P;A1038V]" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000774543" "0" "90" "1" "94510212" "94510212" "subst" "0" "01695" "ABCA4_000665" "g.94510212G>A" "" "{PMID:Duncker 2014:25342616}{PMID:Chen 2019:31015497}" "" "p.Q1003*" "" "Unknown" "" "" "0" "" "" "g.94044656G>A" "" "pathogenic (recessive)" ""
"0000774544" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Duncker 2014:25342616}" "" "p.[L541P;A1038V]" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000774545" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Duncker 2014:25342616}" "" "p.L2027F" "" "Unknown" "" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic (recessive)" ""
"0000774546" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Duncker 2014:25342616}" "" "p.[L541P;A1038V]" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000774547" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Duncker 2014:25342616}" "" "p.[L541P;A1038V]" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000774548" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Duncker 2014:25342616}" "" "p.P1380L" "" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000774549" "0" "90" "1" "94466628" "94466628" "subst" "0.000109748" "01695" "ABCA4_000094" "g.94466628G>A" "" "{PMID:Duncker 2014:25342616}" "" "p.R2106C" "" "Unknown" "" "" "0" "" "" "g.94001072G>A" "" "pathogenic (recessive)" ""
"0000774550" "0" "70" "1" "94510164" "94510164" "subst" "1.62441E-5" "01695" "ABCA4_000144" "g.94510164C>T" "" "{PMID:Duncker 2014:25342616}" "" "c.3050+5G>A" "" "Unknown" "" "" "0" "" "" "g.94044608C>T" "" "likely pathogenic (recessive)" ""
"0000774551" "0" "70" "1" "94466423" "94466423" "subst" "0" "01695" "ABCA4_000818" "g.94466423A>G" "" "{PMID:Duncker 2014:25342616}" "" "p.C2150R" "" "Unknown" "" "" "0" "" "" "g.94000867A>G" "" "likely pathogenic (recessive)" ""
"0000774552" "0" "70" "1" "94466422" "94466422" "subst" "2.43651E-5" "01695" "ABCA4_000817" "g.94466422C>T" "" "{PMID:Duncker 2014:25342616}" "" "p.C2150Y" "" "Unknown" "" "" "0" "" "" "g.94000866C>T" "" "likely pathogenic (recessive)" ""
"0000774553" "0" "90" "1" "94496571" "94496571" "subst" "4.06174E-6" "01695" "ABCA4_000111" "g.94496571G>A" "" "{PMID:Duncker 2014:25342616}" "" "p.Q1412*" "" "Unknown" "" "" "0" "" "" "g.94031015G>A" "" "pathogenic (recessive)" ""
"0000774554" "0" "70" "1" "94480241" "94480241" "subst" "7.71705E-5" "01695" "ABCA4_000446" "g.94480241G>A" "" "{PMID:Duncker 2014:25342616}" "" "p.A1773V" "" "Unknown" "" "" "0" "" "" "g.94014685G>A" "" "likely pathogenic (recessive)" ""
"0000774555" "21" "70" "1" "94495090" "94495090" "subst" "0" "01695" "ABCA4_000543" "g.94495090G>A" "" "{PMID:Sodi 2008:25389627}" "" "P1484S" "mother is homozygous for this and another variant, but is not affected" "Unknown" "" "" "0" "" "" "g.94029534G>A" "" "likely pathogenic (recessive)" ""
"0000774556" "21" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sodi 2008:25389627}" "" "G1961E" "mother is homozygous for this and another variant, but is not affected" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000774557" "21" "70" "1" "94495090" "94495090" "subst" "0" "01695" "ABCA4_000543" "g.94495090G>A" "" "{PMID:Sodi 2008:25389627}" "" "P1484S" "mother is homozygous for this and another variant, but is not affected" "Unknown" "" "" "0" "" "" "g.94029534G>A" "" "likely pathogenic (recessive)" ""
"0000774558" "21" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sodi 2008:25389627}" "" "G1961E" "mother is homozygous for this and another variant, but is not affected" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000774559" "0" "70" "1" "94546261" "94546261" "subst" "0.000648567" "01695" "ABCA4_000353" "g.94546261G>A" "" "{PMID:Teussink 2015:25681002}" "" "c.872C>T" "" "Unknown" "" "" "0" "" "" "g.94080705G>A" "" "likely pathogenic (recessive)" ""
"0000774560" "0" "50" "1" "94564462" "94564462" "subst" "4.06775E-5" "01695" "ABCA4_000380" "g.94564462C>G" "" "{PMID:Teussink 2015:25681002}" "" "c.656G>Cd" "" "Unknown" "" "" "0" "" "" "g.94098906C>G" "" "VUS" ""
"0000774561" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Teussink 2015:25681002}" "" "c.5461 -10T>C" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000774562" "0" "90" "1" "94495000" "94495000" "subst" "0" "01695" "ABCA4_000164" "g.94495000C>A" "" "{PMID:Teussink 2015:25681002}" "" "c.4539 +1G>T" "" "Unknown" "" "" "0" "" "" "g.94029444C>A" "" "pathogenic (recessive)" ""
"0000774563" "0" "50" "1" "94514412" "94514412" "subst" "0.000105596" "01695" "ABCA4_001992" "g.94514412T>G" "" "{PMID:Pang 2015:25707054}" "" "c.2743 + 12A > C" "" "Unknown" "" "" "0" "" "" "g.94048856T>G" "" "VUS" ""
"0000774564" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Sparrow 2015:26230768}" "" "p.[L541P;A1038V]" "no variant 2nd chromosome; no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000774565" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Sparrow 2015:26230768}" "" "p.[L541P;A1038V];" "" "Unknown" "yes" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000774566" "2" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Sparrow 2015:26230768}" "" "[L2027F]" "" "Unknown" "yes" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic (recessive)" ""
"0000774567" "2" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sparrow 2015:26230768}" "" "[G1961E]" "" "Unknown" "yes" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000774568" "2" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sparrow 2015:26230768}" "" "p.[G1961E]" "" "Unknown" "yes" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000774569" "0" "90" "1" "94566773" "94566773" "subst" "0" "01695" "ABCA4_000946" "g.94566773T>C" "" "{PMID:Sparrow 2015:26230768}" "" "c.[570+1798A>G]" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94101217T>C" "" "pathogenic (recessive)" ""
"0000774570" "2" "90" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Cideciyan 2015:26377081}" "" "c.634C>T p.Arg212Cys" "" "Unknown" "yes" "" "0" "" "" "g.94098928G>A" "" "pathogenic (recessive)" ""
"0000774571" "0" "90" "1" "94509032" "94509032" "subst" "0" "01695" "ABCA4_001354" "g.94509032C>T" "" "{PMID:Cideciyan 2015:26377081}" "" "c.3051-1G>A -" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94043476C>T" "" "pathogenic (recessive)" ""
"0000774572" "2" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cideciyan 2015:26377081}" "" "c.5461-10T>C -" "" "Unknown" "yes" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000774573" "2" "70" "1" "94546111" "94546111" "subst" "0" "01695" "ABCA4_000340" "g.94546111T>C" "" "{PMID:Cideciyan 2015:26377081}" "" "c.1022A>G p.Glu341Gly" "" "Unknown" "yes" "" "0" "" "" "g.94080555T>C" "" "likely pathogenic (recessive)" ""
"0000774574" "2" "90" "1" "94486794" "94486794" "subst" "0" "01695" "ABCA4_000478" "g.94486794A>G" "" "{PMID:Cideciyan 2015:26377081}" "" "c.5018+2T>C -" "" "Unknown" "yes" "" "0" "" "" "g.94021238A>G" "" "pathogenic (recessive)" ""
"0000774575" "2" "90" "1" "94486794" "94486794" "subst" "0" "01695" "ABCA4_000478" "g.94486794A>G" "" "{PMID:Cideciyan 2015:26377081}" "" "c.5018+2T>C -" "" "Unknown" "yes" "" "0" "" "" "g.94021238A>G" "" "pathogenic (recessive)" ""
"0000774576" "0" "70" "1" "94486836" "94486836" "subst" "8.12255E-6" "01695" "ABCA4_001739" "g.94486836G>A" "" "{PMID:Cideciyan 2015:26377081}" "" "c.4978C>T p.Pro1660Ser" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94021280G>A" "" "likely pathogenic (recessive)" ""
"0000774577" "2" "70" "1" "94496547" "94496547" "subst" "4.06345E-6" "01695" "ABCA4_000559" "g.94496547C>A" "" "{PMID:Cideciyan 2015:26377081}" "" "c.4253+5G>T -" "" "Unknown" "yes" "" "0" "" "" "g.94030991C>A" "" "likely pathogenic (recessive)" ""
"0000774578" "2" "70" "1" "94496547" "94496547" "subst" "4.06345E-6" "01695" "ABCA4_000559" "g.94496547C>A" "" "{PMID:Cideciyan 2015:26377081}" "" "c.4253+5G>T -" "" "Unknown" "yes" "" "0" "" "" "g.94030991C>A" "" "likely pathogenic (recessive)" ""
"0000774579" "2" "70" "1" "94496547" "94496547" "subst" "4.06345E-6" "01695" "ABCA4_000559" "g.94496547C>A" "" "{PMID:Cideciyan 2015:26377081}" "" "c.4253+5G>T -" "" "Unknown" "yes" "" "0" "" "" "g.94030991C>A" "" "likely pathogenic (recessive)" ""
"0000774580" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Cideciyan 2015:26377081}" "" "c.1622T>C;c.3113C>T p.Leu541Pro;p.Ala1038Val" "" "Unknown" "yes" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000774581" "2" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cideciyan 2015:26377081}" "" "c.5882G>A p.Gly1961Glu" "" "Unknown" "yes" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000774582" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Cideciyan 2015:26377081}" "" "c.1622T>C;c.3113C>T p.Leu541Pro;p.Ala1038Val" "" "Unknown" "yes" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000774583" "2" "70" "1" "94474369" "94474369" "subst" "4.06118E-6" "01695" "ABCA4_001658" "g.94474369T>C" "" "{PMID:Cideciyan 2015:26377081}" "" "c.5773A>G p.Arg1925Gly" "" "Unknown" "yes" "" "0" "" "" "g.94008813T>C" "" "likely pathogenic (recessive)" ""
"0000774584" "2" "70" "1" "94495979" "94495979" "subst" "0" "01695" "ABCA4_001820" "g.94495979C>T" "" "{PMID:Cideciyan 2015:26377081}" "" "c.4352+5G>A -" "" "Unknown" "yes" "" "0" "" "" "g.94030423C>T" "" "likely pathogenic (recessive)" ""
"0000774585" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cideciyan 2015:26377081}" "" "c.5882G>A p.Gly1961Glu" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000774586" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Cideciyan 2015:26377081}" "" "c.4139C>T p.Pro1380Leu" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000774587" "2" "70" "1" "94495083" "94495083" "subst" "0.000124542" "01695" "ABCA4_000542" "g.94495083G>A" "" "{PMID:Cideciyan 2015:26377081}" "" "c.4457C>T p.Pro1486Leu" "" "Unknown" "yes" "" "0" "" "" "g.94029527G>A" "" "likely pathogenic (recessive)" ""
"0000774588" "2" "70" "1" "94495083" "94495083" "subst" "0.000124542" "01695" "ABCA4_000542" "g.94495083G>A" "" "{PMID:Cideciyan 2015:26377081}" "" "c.4457C>T p.Pro1486Leu" "" "Unknown" "yes" "" "0" "" "" "g.94029527G>A" "" "likely pathogenic (recessive)" ""
"0000774589" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cideciyan 2015:26377081}{PMID:Cideciyan 2012:22247458}" "" "c.5882G>A p.Gly1961Glu" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000774590" "0" "70" "1" "94466422" "94466422" "subst" "2.43651E-5" "01695" "ABCA4_000817" "g.94466422C>T" "" "{PMID:Cideciyan 2015:26377081}" "" "c.6449G>A p.Cys2150Tyr" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94000866C>T" "" "likely pathogenic (recessive)" ""
"0000774591" "2" "90" "1" "94466625" "94466625" "subst" "1.62559E-5" "01695" "ABCA4_000839" "g.94466625G>A" "" "{PMID:Cideciyan 2015:26377081}" "" "c.6319C>T p.Arg2107Cys" "" "Unknown" "yes" "" "0" "" "" "g.94001069G>A" "" "pathogenic (recessive)" ""
"0000774592" "0" "50" "1" "94543308" "94543308" "subst" "2.43815E-5" "01695" "ABCA4_002118" "g.94543308C>T" "" "{PMID:Olivo 2015:26574798}" "" "D498N" "" "Unknown" "" "" "0" "" "" "g.94077752C>T" "" "VUS" ""
"0000774593" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Olivo 2015:26574798}" "" "G1961E" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000774594" "0" "70" "1" "94497445" "94497446" "ins" "0" "01695" "ABCA4_001856" "g.94497445_94497446insN[24]" "" "{PMID:Olivo 2015:26574798}" "" "4017ins24bp" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000774595" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Olivo 2015:26574798}" "" "L541P/A1038V" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000774596" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Olivo 2015:26574798}" "" "IVS40+5g->a" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000774597" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Olivo 2015:26574798}" "" "L541P/A1038V" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000774598" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Olivo 2015:26574798}" "" "G1961E" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000774599" "0" "90" "1" "94466426" "94466426" "subst" "1.62433E-5" "01695" "ABCA4_000124" "g.94466426G>A" "" "{PMID:Olivo 2015:26574798}" "" "R2149X" "" "Unknown" "" "" "0" "" "" "g.94000870G>A" "" "pathogenic (recessive)" ""
"0000774600" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Olivo 2015:26574798}{PMID:Melillo 2018:29625472}{PMID:Melillo 2020:32821503}" "" "IVS40+5G>A" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000774601" "0" "30" "1" "94474328" "94474328" "subst" "0.189409" "01695" "ABCA4_000886" "g.94474328T>C" "" "{PMID:Olivo 2015:26574798}" "" "L1938L" "" "Unknown" "" "" "0" "" "" "g.94008772T>C" "" "likely benign" ""
"0000774602" "0" "50" "1" "94476388" "94476388" "subst" "0.215397" "01695" "ABCA4_000890" "g.94476388C>G" "" "{PMID:Olivo 2015:26574798}" "" "L1894L" "" "Unknown" "" "" "0" "" "" "g.94010832C>G" "" "VUS" ""
"0000774603" "0" "50" "1" "94485269" "94485269" "subst" "0" "01695" "ABCA4_000146" "g.94485269A>G" "" "{PMID:Olivo 2015:26574798}" "" "S1689P" "" "Unknown" "" "" "0" "" "" "g.94019713A>G" "" "VUS" ""
"0000774604" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Olivo 2015:26574798}" "" "L541P/A1038V" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000774605" "0" "50" "1" "94526289" "94526289" "subst" "0.000417202" "01695" "ABCA4_000767" "g.94526289A>C" "" "{PMID:Olivo 2015:26574798}" "" "F655C" "" "Unknown" "" "" "0" "" "" "g.94060733A>C" "" "VUS" ""
"0000774606" "0" "70" "1" "94574173" "94574174" "ins" "0" "01695" "ABCA4_002210" "g.94574173_94574174insN[24]" "" "{PMID:Olivo 2015:26574798}" "" "402ins24bp" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000774607" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Olivo 2015:26574798}" "" "G1961E" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000774608" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Olivo 2015:26574798}{PMID:Melillo 2018:29625472}{PMID:Melillo 2020:32821503}" "" "G1961E" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000774609" "0" "70" "1" "94487251" "94487251" "subst" "2.85679E-5" "01695" "ABCA4_000490" "g.94487251G>T" "" "{PMID:Olivo 2015:26574798}{PMID:Melillo 2018:29625472}{PMID:Melillo 2020:32821503}" "" "A1598D" "" "Unknown" "" "" "0" "" "" "g.94021695G>T" "" "likely pathogenic (recessive)" ""
"0000774610" "0" "90" "1" "94466426" "94466426" "subst" "1.62433E-5" "01695" "ABCA4_000124" "g.94466426G>A" "" "{PMID:Olivo 2015:26574798}" "" "R2149X" "" "Unknown" "" "" "0" "" "" "g.94000870G>A" "" "pathogenic (recessive)" ""
"0000774611" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Olivo 2015:26574798}{PMID:Melillo 2018:29625472}{PMID:Melillo 2020:32821503}" "" "G1961E" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000774612" "0" "70" "1" "94496029" "94496029" "subst" "0" "01695" "ABCA4_001829" "g.94496029T>A" "" "{PMID:Olivo 2015:26574798}{PMID:Melillo 2018:29625472}" "" "N1436I" "" "Unknown" "" "" "0" "" "" "g.94030473T>A" "" "likely pathogenic (recessive)" ""
"0000774613" "0" "50" "1" "94544913" "94544913" "subst" "0" "01695" "ABCA4_000331" "g.94544913G>C" "" "{PMID:Olivo 2015:26574798}{PMID:Melillo 2018:29625472}{PMID:Melillo 2020:32821503}" "" "P402A" "" "Unknown" "" "" "0" "" "" "g.94079357G>C" "" "VUS" ""
"0000774614" "0" "90" "1" "94486794" "94486794" "subst" "0" "01695" "ABCA4_000478" "g.94486794A>G" "" "{PMID:Olivo 2015:26574798}{PMID:Melillo 2018:29625472}{PMID:Melillo 2020:32821503}" "" "c.5018+2T>C" "" "Unknown" "" "" "0" "" "" "g.94021238A>G" "" "pathogenic (recessive)" ""
"0000774615" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Olivo 2015:26574798}" "" "IVS40+5G>A" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000774616" "0" "90" "1" "94467413" "94467413" "subst" "8.12612E-6" "01695" "ABCA4_000131" "g.94467413C>G" "" "{PMID:Olivo 2015:26574798}{PMID:Melillo 2018:29625472}{PMID:Melillo 2020:32821503}" "" "c.6282+1G>C" "" "Unknown" "" "" "0" "" "" "g.94001857C>G" "" "pathogenic (recessive)" ""
"0000774617" "0" "70" "1" "94496029" "94496029" "subst" "0" "01695" "ABCA4_001829" "g.94496029T>A" "" "{PMID:Olivo 2015:26574798}{PMID:Melillo 2018:29625472}{PMID:Melillo 2020:32821503}" "" "N1436I" "" "Unknown" "" "" "0" "" "" "g.94030473T>A" "" "likely pathogenic (recessive)" ""
"0000774618" "0" "90" "1" "94473278" "94473278" "del" "3.25908E-5" "01695" "ABCA4_000392" "g.94473278del" "" "{PMID:Perez-Carro 2016:26806561}" "" "c.5917delG" "" "Unknown" "" "" "0" "" "" "g.94007722del" "" "pathogenic (recessive)" ""
"0000774619" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Bernstein 2016:26909568}" "" "c.1622T>C" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000774620" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Bernstein 2016:26909568}" "" "c.3113C>T" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000774621" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Bernstein 2016:26909568}" "" "IVS38-10T>C" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000774622" "0" "70" "1" "94474323" "94474323" "subst" "0" "01695" "ABCA4_001654" "g.94474323A>T" "" "{PMID:Bernstein 2016:26909568}" "" "L1940Q" "" "Unknown" "" "" "0" "" "" "g.94008767A>T" "" "likely pathogenic (recessive)" ""
"0000774623" "0" "90" "1" "94576993" "94576993" "subst" "2.03513E-5" "01695" "ABCA4_000069" "g.94576993C>T" "" "{PMID:Bernstein 2016:26909568}" "" "c.302+1G>A" "" "Unknown" "" "" "0" "" "" "g.94111437C>T" "" "pathogenic (recessive)" ""
"0000774624" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Bernstein 2016:26909568}" "" "c.5882G>A" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000774625" "0" "50" "1" "94502756" "94502756" "subst" "0.000422575" "01695" "ABCA4_000032" "g.94502756G>A" "" "{PMID:Bernstein 2016:26909568}" "" "c.3758C>T" "" "Unknown" "" "" "0" "" "" "g.94037200G>A" "" "VUS" ""
"0000774626" "0" "50" "1" "94486788" "94486788" "subst" "0.000735109" "01695" "ABCA4_000894" "g.94486788T>C" "" "{PMID:Bernstein 2016:26909568}" "" "c.5018+8A>G" "" "Unknown" "" "" "0" "" "" "g.94021232T>C" "" "VUS" ""
"0000774627" "2" "90" "1" "94463554" "94463554" "subst" "0" "01695" "ABCA4_001485" "g.94463554G>A" "" "{PMID:Huang 2016:26992781}" "" "c.[1804C>T];[6592C>T]" "" "Unknown" "yes" "" "0" "" "" "g.93997998G>A" "" "pathogenic (recessive)" ""
"0000774628" "2" "90" "1" "94528276" "94528276" "del" "0" "01695" "ABCA4_001527" "g.94528276del" "" "{PMID:Huang 2016:26992781}" "" "c.[1804C>T];[1795del]" "" "Unknown" "yes" "" "0" "" "" "g.94062720del" "" "pathogenic (recessive)" ""
"0000774629" "2" "90" "1" "94486966" "94486966" "" "0" "01695" "ABCA4_001521" "g.94486966C=" "" "{PMID:Huang 2016:26992781}" "" "c.[1646C>A];[4849-1C>G]" "" "Unknown" "yes" "" "0" "" "" "g.94021410C=" "" "pathogenic (recessive)" ""
"0000774630" "2" "90" "1" "94487401" "94487401" "subst" "4.06085E-6" "01695" "ABCA4_000995" "g.94487401C>T" "" "{PMID:Huang 2016:26992781}" "" "c.[3055A>G];[4773+1C>A]" "" "Unknown" "yes" "" "0" "" "" "g.94021845C>T" "" "pathogenic (recessive)" ""
"0000774631" "2" "10" "1" "94467407" "94467407" "subst" "0.0756573" "01695" "ABCA4_000846" "g.94467407C>T" "" "{PMID:Tsipi 2016:27014590}" "" "– c.6282+7G>A" "" "Unknown" "yes" "" "0" "" "" "g.94001851C>T" "" "benign" ""
"0000774632" "2" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Tsipi 2016:27014590}" "" "p.Gly1961Glu c.5882G>A" "" "Unknown" "yes" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000774633" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Tsipi 2016:27014590}" "" "p.Ala1038Val c.3113C>T" "" "Unknown" "yes" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000774634" "2" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Tsipi 2016:27014590}" "" "p.Gly1961Glu c.5882G>A" "" "Unknown" "yes" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000774635" "2" "90" "1" "94473278" "94473278" "del" "3.25908E-5" "01695" "ABCA4_000392" "g.94473278del" "" "{PMID:Tsipi 2016:27014590}" "" "p.Val1973X c.5917delT" "" "Unknown" "yes" "" "0" "" "" "g.94007722del" "" "pathogenic (recessive)" ""
"0000774636" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Tsipi 2016:27014590}" "" "p.Ala1038Val c.3113C>T" "" "Unknown" "yes" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000774637" "2" "90" "1" "94495983" "94495983" "subst" "8.12348E-6" "01695" "ABCA4_000547" "g.94495983C>T" "" "{PMID:Tsipi 2016:27014590}" "" "– c.4352+1G>A" "" "Unknown" "yes" "" "0" "" "" "g.94030427C>T" "" "pathogenic (recessive)" ""
"0000774638" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Tsipi 2016:27014590}" "" "p.Ala1038Val c.3113C>T" "" "Unknown" "yes" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000774639" "2" "90" "1" "94495983" "94495983" "subst" "8.12348E-6" "01695" "ABCA4_000547" "g.94495983C>T" "" "{PMID:Tsipi 2016:27014590}" "" "– c.4352+1G>A" "" "Unknown" "yes" "" "0" "" "" "g.94030427C>T" "" "pathogenic (recessive)" ""
"0000774640" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Tsipi 2016:27014590}" "" "p.Ala1038Val c.3113C>T" "" "Unknown" "yes" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000774641" "2" "90" "1" "94495983" "94495983" "subst" "8.12348E-6" "01695" "ABCA4_000547" "g.94495983C>T" "" "{PMID:Tsipi 2016:27014590}" "" "– c.4352+1G>A" "" "Unknown" "yes" "" "0" "" "" "g.94030427C>T" "" "pathogenic (recessive)" ""
"0000774642" "0" "50" "1" "94520694" "94520694" "subst" "8.12414E-6" "01695" "ABCA4_000712" "g.94520694C>T" "" "{PMID:Tsipi 2016:27014590}" "" "p.Ala854Thr c.2560G>A" "" "Unknown" "yes" "" "0" "" "" "g.94055138C>T" "" "VUS" ""
"0000774643" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Tsipi 2016:27014590}" "" "– c.5714+5>A" "" "Unknown" "yes" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000774644" "2" "90" "1" "94473790" "94473790" "subst" "0" "01695" "ABCA4_000399" "g.94473790C>T" "" "{PMID:Huckfeldt 2016:27030965}" "" "IVS42+1" "" "Unknown" "" "" "0" "" "" "g.94008234C>T" "" "pathogenic (recessive)" ""
"0000774645" "21" "90" "1" "94473790" "94473790" "subst" "0" "01695" "ABCA4_000399" "g.94473790C>T" "" "{PMID:Huckfeldt 2016:27030965}" "" "IVS42+1" "" "Unknown" "" "" "0" "" "" "g.94008234C>T" "" "pathogenic (recessive)" ""
"0000774646" "21" "90" "1" "94473790" "94473790" "subst" "0" "01695" "ABCA4_000399" "g.94473790C>T" "" "{PMID:Huckfeldt 2016:27030965}{PMID:Stone 2017:28559085}" "" "IVS42+1" "" "Unknown" "" "" "0" "" "" "g.94008234C>T" "" "pathogenic (recessive)" ""
"0000774647" "0" "90" "1" "94528251" "94528251" "subst" "0" "01695" "ABCA4_000077" "g.94528251C>G" "" "{PMID:Bravo-Gil 2016:27032803}" "" "c.1819G > C" "" "Unknown" "" "" "0" "" "" "g.94062695C>G" "" "pathogenic (recessive)" ""
"0000774648" "21" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Lee 2016:27367509}" "" "p.L541P" "" "Unknown" "yes" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000774649" "21" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Lee 2016:27367509}" "" "p.L541P" "" "Unknown" "yes" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000774650" "2" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Müller 2017:27414126}{PMID:Gliem 2020:32646556}" "" "E42 c.5882G>A (p.Gly1961Glu)" "" "Unknown" "yes" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000774651" "2" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Müller 2017:27414126}{PMID:Gliem 2020:32646556}" "" "E17 c.2588G>C (p.Gly963Ala)" "" "Unknown" "yes" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000774652" "0" "90" "1" "94520686" "94520686" "subst" "0" "01695" "ABCA4_000710" "g.94520686G>T" "" "{PMID:Fakin 2016:27583828}" "" "c.2568C>A p.Y856X" "" "Unknown" "" "" "0" "" "" "g.94055130G>T" "" "pathogenic (recessive)" ""
"0000774653" "3" "90" "1" "94568687" "94568687" "subst" "1.62641E-5" "01695" "ABCA4_000024" "g.94568687G>A" "" "{PMID:Fakin 2016:27583828}" "" "c.454C>T p.R152X" "" "Unknown" "" "" "0" "" "" "g.94103131G>A" "" "pathogenic (recessive)" ""
"0000774654" "0" "90" "1" "94463488" "94463488" "subst" "5.2803E-5" "01695" "ABCA4_000802" "g.94463488G>A" "" "{PMID:Fakin 2016:27583828}" "" "c.6658 C>T p.Q2220X" "" "Unknown" "" "" "0" "" "" "g.93997932G>A" "" "pathogenic (recessive)" ""
"0000774655" "0" "90" "1" "94495009" "94495009" "del" "0" "01695" "ABCA4_000534" "g.94495009del" "" "{PMID:Fakin 2016:27583828}{PMID:Fakin 2016:27820952}" "" "c.4537delC p.Q1513fs" "" "Unknown" "" "" "0" "" "" "g.94029453del" "" "pathogenic (recessive)" ""
"0000774656" "0" "90" "1" "94544185" "94544185" "subst" "8.12137E-6" "01695" "ABCA4_000177" "g.94544185C>T" "" "{PMID:Fakin 2016:27583828}" "" "c.1317G>A p.W439X" "" "Unknown" "" "" "0" "" "" "g.94078629C>T" "" "pathogenic (recessive)" ""
"0000774657" "0" "90" "1" "94564442" "94564454" "del" "0" "01695" "ABCA4_000377" "g.94564442_94564454del" "" "{PMID:Fakin 2016:27583828}" "" "c.666del13 p.222fs" "" "Unknown" "" "" "0" "" "" "g.94098886_94098898del" "" "pathogenic (recessive)" ""
"0000774658" "0" "90" "1" "94528780" "94528780" "subst" "0" "01695" "ABCA4_002097" "g.94528780C>A" "" "{PMID:Fakin 2016:27583828}" "" "c.1648G>T p.G550X" "" "Unknown" "" "" "0" "" "" "g.94063224C>A" "" "pathogenic (recessive)" ""
"0000774659" "0" "90" "1" "94568687" "94568687" "subst" "1.62641E-5" "01695" "ABCA4_000024" "g.94568687G>A" "" "{PMID:Fakin 2016:27583828}" "" "c.454C>T p.R152X" "" "Unknown" "" "" "0" "" "" "g.94103131G>A" "" "pathogenic (recessive)" ""
"0000774660" "0" "90" "1" "94586581" "94586581" "dup" "0" "01695" "ABCA4_002253" "g.94586581dup" "" "{PMID:Fakin 2016:27583828}" "" "c.20insA p.Q8fs" "" "Unknown" "" "" "0" "" "" "g.94121025dup" "" "pathogenic (recessive)" ""
"0000774661" "0" "90" "1" "94528164" "94528164" "subst" "2.03336E-5" "01695" "ABCA4_000267" "g.94528164G>A" "" "{PMID:Fakin 2016:27583828}" "" "c.1906C>T p.Q636X" "" "Unknown" "" "" "0" "" "" "g.94062608G>A" "" "pathogenic (recessive)" ""
"0000774662" "0" "90" "1" "94528164" "94528164" "subst" "2.03336E-5" "01695" "ABCA4_000267" "g.94528164G>A" "" "{PMID:Fakin 2016:27583828}" "" "c.1906C>T p.Q636X" "" "Unknown" "" "" "0" "" "" "g.94062608G>A" "" "pathogenic (recessive)" ""
"0000774663" "0" "90" "1" "94508356" "94508356" "subst" "0" "01695" "ABCA4_000635" "g.94508356T>A" "" "{PMID:Fakin 2016:27583828}" "" "c.3289A>T p.R1097X" "" "Unknown" "" "" "0" "" "" "g.94042800T>A" "" "pathogenic (recessive)" ""
"0000774664" "0" "90" "1" "94508356" "94508356" "subst" "0" "01695" "ABCA4_000635" "g.94508356T>A" "" "{PMID:Fakin 2016:27583828}" "" "c.3289A>T p.R1097X" "" "Unknown" "" "" "0" "" "" "g.94042800T>A" "" "pathogenic (recessive)" ""
"0000774665" "0" "90" "1" "94471056" "94471056" "subst" "2.84398E-5" "01695" "ABCA4_000050" "g.94471056G>A" "" "{PMID:Fakin 2016:27583828}" "" "c.6088C>T p.R2030X" "" "Unknown" "" "" "0" "" "" "g.94005500G>A" "" "pathogenic (recessive)" ""
"0000774666" "0" "90" "1" "94463488" "94463488" "subst" "5.2803E-5" "01695" "ABCA4_000802" "g.94463488G>A" "" "{PMID:Fakin 2016:27583828}" "" "c.6658 C>T p.Q2220X" "" "Unknown" "" "" "0" "" "" "g.93997932G>A" "" "pathogenic (recessive)" ""
"0000774667" "0" "90" "1" "94471026" "94471026" "subst" "1.21925E-5" "01695" "ABCA4_000791" "g.94471026G>A" "" "{PMID:Fakin 2016:27583828}" "" "c.6118C>T p.R2040X" "" "Unknown" "" "" "0" "" "" "g.94005470G>A" "" "pathogenic (recessive)" ""
"0000774668" "0" "90" "1" "94463488" "94463488" "subst" "5.2803E-5" "01695" "ABCA4_000802" "g.94463488G>A" "" "{PMID:Fakin 2016:27583828}" "" "c.6658 C>T p.Q2220X" "" "Unknown" "" "" "0" "" "" "g.93997932G>A" "" "pathogenic (recessive)" ""
"0000774669" "0" "90" "1" "94578596" "94578596" "subst" "4.06478E-6" "01695" "ABCA4_000250" "g.94578596C>T" "" "{PMID:Fakin 2016:27583828}{PMID:Fakin 2016:27820952}" "" "c.93G>A p.W31X" "" "Unknown" "" "" "0" "" "" "g.94113040C>T" "" "pathogenic (recessive)" ""
"0000774670" "0" "90" "1" "94546248" "94546248" "del" "2.03666E-5" "01695" "ABCA4_000352" "g.94546248del" "" "{PMID:Fakin 2016:27583828}{PMID:Fakin 2016:27820952}" "" "c.885delC p.D295fs" "" "Unknown" "" "" "0" "" "" "g.94080692del" "" "pathogenic (recessive)" ""
"0000774671" "0" "90" "1" "94546248" "94546248" "del" "2.03666E-5" "01695" "ABCA4_000352" "g.94546248del" "" "{PMID:Fakin 2016:27583828}{PMID:Fakin 2016:27820952}" "" "c.885delC p.D295fs" "" "Unknown" "" "" "0" "" "" "g.94080692del" "" "pathogenic (recessive)" ""
"0000774672" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Fakin 2016:27583828}" "" "c.5461-10T>C Splice" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000774673" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Fakin 2016:27583828}{PMID:Fakin 2016:27820952}" "" "c.5461-10T>C Splice" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000774674" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Fakin 2016:27583828}{PMID:Fakin 2016:27820952}" "" "c.5461-10T>C Splice" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000774675" "0" "90" "1" "94463434" "94463434" "subst" "0" "01695" "ABCA4_000856" "g.94463434G>A" "" "{PMID:Fakin 2016:27583828}{PMID:Fakin 2016:27820952}" "" "c.6714C>T p.Q2238X" "" "Unknown" "" "" "0" "" "" "g.93997878G>A" "" "pathogenic (recessive)" ""
"0000774676" "0" "90" "1" "94481385" "94481385" "del" "0" "01695" "ABCA4_001711" "g.94481385del" "" "{PMID:Fakin 2016:27583828}" "" "c.5222del11 p.L1741fs" "" "Unknown" "" "" "0" "" "" "g.94015829del" "" "pathogenic (recessive)" ""
"0000774677" "0" "70" "1" "94463399" "94463413" "del" "0" "01695" "ABCA4_000851" "g.94463399_94463413del" "" "{PMID:Fakin 2016:27583828}{PMID:Fakin 2016:27820952}" "" "c.6729+4del15 Splice" "" "Unknown" "" "" "0" "" "" "g.93997843_93997857del" "" "likely pathogenic (recessive)" ""
"0000774678" "0" "90" "1" "94497468" "94497468" "subst" "0" "01695" "ABCA4_000582" "g.94497468G>A" "" "{PMID:Fakin 2016:27583828}" "" "c.3994C>T p.Q1332X" "" "Unknown" "" "" "0" "" "" "g.94031912G>A" "" "pathogenic (recessive)" ""
"0000774679" "0" "90" "1" "94488972" "94488972" "subst" "0" "01695" "ABCA4_001777" "g.94488972A>C" "" "{PMID:Fakin 2016:27583828}{PMID:Fakin 2016:27820952}" "" "c.4637T>G p.1546X" "" "Unknown" "" "" "0" "" "" "g.94023416A>C" "" "pathogenic (recessive)" ""
"0000774680" "0" "90" "1" "94528164" "94528164" "subst" "2.03336E-5" "01695" "ABCA4_000267" "g.94528164G>A" "" "{PMID:Fakin 2016:27583828}{PMID:Fakin 2016:27820952}" "" "c.1906C>T p.Q636X" "" "Unknown" "" "" "0" "" "" "g.94062608G>A" "" "pathogenic (recessive)" ""
"0000774681" "0" "90" "1" "94510168" "94510168" "subst" "0" "01695" "ABCA4_000662" "g.94510168C>G" "" "{PMID:Fakin 2016:27583828}" "" "c.3050+1G>C Splice" "" "Unknown" "" "" "0" "" "" "g.94044612C>G" "" "pathogenic (recessive)" ""
"0000774682" "0" "90" "1" "94486794" "94486794" "subst" "0" "01695" "ABCA4_000478" "g.94486794A>G" "" "{PMID:Fakin 2016:27583828}" "" "c.5018+2T>C Splice" "" "Unknown" "" "" "0" "" "" "g.94021238A>G" "" "pathogenic (recessive)" ""
"0000774683" "0" "90" "1" "94473298" "94473298" "del" "0" "01695" "ABCA4_000396" "g.94473298del" "" "{PMID:Fakin 2016:27583828}" "" "c.5899-2delA Splice" "" "Unknown" "" "" "0" "" "" "g.94007742del" "" "pathogenic (recessive)" ""
"0000774684" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Fakin 2016:27583828}" "" "c.5461-10T>C Splice" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000774685" "0" "70" "1" "94496547" "94496547" "subst" "1.21904E-5" "01695" "ABCA4_000560" "g.94496547C>T" "" "{PMID:Fakin 2016:27583828}" "" "c.4253+5G>A Splice" "" "Unknown" "" "" "0" "" "" "g.94030991C>T" "" "likely pathogenic (recessive)" ""
"0000774686" "0" "90" "1" "94486791" "94486791" "subst" "0" "01695" "ABCA4_001253" "g.94486791C>T" "" "{PMID:Fakin 2016:27583828}" "" "c.5018+5G>A Splice" "" "Unknown" "" "" "0" "" "" "g.94021235C>T" "" "pathogenic (recessive)" ""
"0000774687" "0" "90" "1" "94471026" "94471026" "subst" "1.21925E-5" "01695" "ABCA4_000791" "g.94471026G>A" "" "{PMID:Fakin 2016:27583828}" "" "c.6118C>T p.R2040X" "" "Unknown" "" "" "0" "" "" "g.94005470G>A" "" "pathogenic (recessive)" ""
"0000774688" "2" "70" "1" "94471055" "94471055" "subst" "0.00035346" "01695" "ABCA4_000029" "g.94471055C>T" "" "{PMID:Lambertus 2016:27699414}" "" "c.6089G>A p.(Arg2030Gln)" "" "Unknown" "" "" "0" "" "" "g.94005499C>T" "" "likely pathogenic (recessive)" ""
"0000774689" "2" "50" "1" "94496039" "94496039" "subst" "0.00157963" "01695" "ABCA4_000552" "g.94496039C>T" "" "{PMID:Lambertus 2016:27699414}" "" "c.4297G>A p.(Val1433Ile)" "" "Unknown" "" "" "0" "" "" "g.94030483C>T" "" "VUS" ""
"0000774690" "2" "50" "1" "94564462" "94564462" "subst" "4.06775E-5" "01695" "ABCA4_000380" "g.94564462C>G" "" "{PMID:Lambertus 2016:27699414}" "" "c.656G>C p.(Arg219Thr)" "" "Unknown" "" "" "0" "" "" "g.94098906C>G" "" "VUS" ""
"0000774691" "2" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Lambertus 2016:27699414}" "" "c.5461-10T>C p.[Thr1821Valfs*13, Thr1821Aspfs*6]" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000774692" "2" "70" "1" "94546261" "94546261" "subst" "0.000648567" "01695" "ABCA4_000353" "g.94546261G>A" "" "{PMID:Lambertus 2016:27699414}" "" "c.872C>T† p.(Pro291Leu)" "" "Unknown" "" "" "0" "" "" "g.94080705G>A" "" "likely pathogenic (recessive)" ""
"0000774693" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Lambertus 2016:27699414}" "" "c.1622T>C;3113C>T p.[Leu541Pro; Ala1038Val]" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000774694" "2" "90" "1" "94474329" "94474329" "subst" "0" "01695" "ABCA4_000960" "g.94474329A>C" "" "{PMID:Lambertus 2016:27699414}" "" "c.5813T>G p.(Leu1938*)" "" "Unknown" "" "" "0" "" "" "g.94008773A>C" "" "pathogenic (recessive)" ""
"0000774695" "2" "50" "1" "94495021" "94495021" "subst" "0.000161713" "01695" "ABCA4_000538" "g.94495021C>T" "" "{PMID:Lambertus 2016:27699414}" "" "c.4519G>A p.(Gly1507Arg)" "" "Unknown" "" "" "0" "" "" "g.94029465C>T" "" "VUS" ""
"0000774696" "2" "70" "1" "94476865" "94476865" "subst" "2.03107E-5" "01695" "ABCA4_000430" "g.94476865A>G" "" "{PMID:Lambertus 2016:27699414}" "" "c.5537T>C p.(Ile1846Thr)" "" "Unknown" "" "" "0" "" "" "g.94011309A>G" "" "likely pathogenic (recessive)" ""
"0000774697" "2" "70" "1" "94528253" "94528253" "subst" "8.13729E-6" "01695" "ABCA4_000767" "g.94528253C>T" "" "{PMID:Parker 2016:27730010}" "" "c.1817 G>A" "" "Unknown" "" "" "0" "" "" "g.94062697C>T" "" "likely pathogenic (recessive)" ""
"0000774698" "2" "90" "1" "94463416" "94463416" "subst" "0" "01695" "ABCA4_000852" "g.94463416C>T" "" "{PMID:Parker 2016:27730010}" "" "c.6729+1G>A" "" "Unknown" "" "" "0" "" "" "g.93997860C>T" "" "pathogenic (recessive)" ""
"0000774699" "2" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Parker 2016:27730010}" "" "c.3322C>T" "" "Unknown" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000774700" "2" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Parker 2016:27730010}" "" "c.3322C>T" "" "Unknown" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000774701" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Parker 2016:27730010}" "" "c.5882G>A" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000774702" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Parker 2016:27730010}" "" "c.6079C>T" "" "Unknown" "" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic (recessive)" ""
"0000774703" "2" "70" "1" "94463460" "94463460" "subst" "6.90507E-5" "01695" "ABCA4_000799" "g.94463460A>G" "" "{PMID:Parker 2016:27730010}" "" "c.6686T>C" "" "Unknown" "" "" "0" "" "" "g.93997904A>G" "" "likely pathogenic (recessive)" ""
"0000774704" "2" "70" "1" "94502701" "94502701" "subst" "0" "01695" "ABCA4_001871" "g.94502701C>A" "" "{PMID:Parker 2016:27730010}" "" "c.3813G>T" "" "Unknown" "" "" "0" "" "" "g.94037145C>A" "" "likely pathogenic (recessive)" ""
"0000774705" "2" "90" "1" "94514477" "94514477" "del" "0" "01695" "ABCA4_001996" "g.94514477del" "" "{PMID:Parker 2016:27730010}" "" "c.2691del" "" "Unknown" "" "" "0" "" "" "g.94048921del" "" "pathogenic (recessive)" ""
"0000774706" "2" "90" "1" "94528132" "94528132" "subst" "4.06835E-6" "01695" "ABCA4_000773" "g.94528132C>T" "" "{PMID:Parker 2016:27730010}" "" "c.1937+1G>A" "" "Unknown" "" "" "0" "" "" "g.94062576C>T" "" "pathogenic (recessive)" ""
"0000774707" "2" "90" "1" "94463442" "94463442" "subst" "0" "01695" "ABCA4_001199" "g.94463442G>C" "" "{PMID:Parker 2016:27730010}" "" "c.6704C>G" "" "Unknown" "" "" "0" "" "" "g.93997886G>C" "" "pathogenic (recessive)" ""
"0000774708" "2" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Parker 2016:27730010}" "" "c.6079C>T" "" "Unknown" "" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic (recessive)" ""
"0000774709" "2" "70" "1" "94490567" "94490567" "subst" "5.68528E-5" "01695" "ABCA4_000026" "g.94490567G>A" "" "{PMID:Parker 2016:27730010}" "" "c.4577C>T" "" "Unknown" "" "" "0" "" "" "g.94025011G>A" "" "likely pathogenic (recessive)" ""
"0000774710" "2" "90" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Parker 2016:27730010}" "" "c.6320G>A" "" "Unknown" "" "" "0" "" "" "g.94001068C>T" "" "pathogenic (recessive)" ""
"0000774711" "2" "90" "1" "94458794" "94476818" "del" "0" "01695" "ABCA4_001555" "g.94458794_94476818del" "" "{PMID:Parker 2016:27730010}" "" "c.5584_6821del" "" "Unknown" "" "" "0" "" "" "g.93993238_94011262del" "" "pathogenic (recessive)" ""
"0000774712" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Parker 2016:27730010}" "" "c.3113C>T" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000774713" "2" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Parker 2016:27730010}" "" "c.3386G>T" "" "Unknown" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000774714" "2" "90" "1" "94476381" "94476381" "subst" "0" "01695" "ABCA4_001668" "g.94476381G>A" "" "{PMID:Parker 2016:27730010}" "" "c.5689C>T" "" "Unknown" "" "" "0" "" "" "g.94010825G>A" "" "pathogenic (recessive)" ""
"0000774715" "2" "50" "1" "94496610" "94496610" "subst" "2.03128E-5" "01695" "ABCA4_000571" "g.94496610C>T" "" "{PMID:Parker 2016:27730010}" "" "c.4195G>A" "" "Unknown" "" "" "0" "" "" "g.94031054C>T" "" "VUS" ""
"0000774716" "2" "90" "1" "94526247" "94526248" "del" "0" "01695" "ABCA4_000761" "g.94526247_94526248del" "" "{PMID:Parker 2016:27730010}" "" "c.2005_2006del" "" "Unknown" "" "" "0" "" "" "g.94060691_94060692del" "" "pathogenic (recessive)" ""
"0000774717" "2" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Parker 2016:27730010}" "" "c.4139C>T" "" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000774718" "2" "90" "1" "94520686" "94520686" "subst" "0" "01695" "ABCA4_000710" "g.94520686G>T" "" "{PMID:Lin 2016:27739528}" "" "c.2568C>A p.Y856X" "" "Unknown" "yes" "" "0" "" "" "g.94055130G>T" "" "pathogenic (recessive)" ""
"0000774719" "2" "90" "1" "94466391" "94466391" "subst" "0" "01695" "ABCA4_000813" "g.94466391C>G" "" "{PMID:Lin 2016:27739528}" "" "c.6479+1G>C p.?" "" "Unknown" "yes" "" "0" "" "" "g.94000835C>G" "" "pathogenic (recessive)" ""
"0000774720" "2" "70" "1" "94473266" "94473266" "subst" "8.14677E-6" "01695" "ABCA4_000389" "g.94473266C>T" "" "{PMID:Lin 2016:27739528}" "" "c.5929G>A p.G1977S" "" "Unknown" "yes" "" "0" "" "" "g.94007710C>T" "" "likely pathogenic (recessive)" ""
"0000774721" "2" "90" "1" "94485137" "94485137" "subst" "0" "01695" "ABCA4_000464" "g.94485137C>T" "" "{PMID:Lin 2016:27739528}" "" "c.5196+1G>A p.?" "" "Unknown" "yes" "" "0" "" "" "g.94019581C>T" "" "pathogenic (recessive)" ""
"0000774722" "3" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Aukrust 2017:27775217}" "" "c.5603A>T (homo)" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000774723" "3" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Aukrust 2017:27775217}" "" "c.5461-10T>C (homo)" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000774724" "3" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Aukrust 2017:27775217}" "" "c.5603A>T (homo)" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000774725" "1" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Aukrust 2017:27775217}" "" "c.5461-10T>C (hetero); c.5603A>T (hetero)" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000774726" "2" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Aukrust 2017:27775217}" "" "c.5882G>A (hetero)" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000774727" "0" "90" "1" "94481380" "94481390" "del" "0" "01695" "ABCA4_000458" "g.94481380_94481390del" "" "{PMID:Fakin 2016:27820952}" "" "c.5222del11 p.L1741fs" "" "Unknown" "" "" "0" "" "" "g.94015824_94015834del" "" "pathogenic (recessive)" ""
"0000774728" "0" "90" "1" "94544185" "94544185" "subst" "8.12137E-6" "01695" "ABCA4_000177" "g.94544185C>T" "" "{PMID:Fakin 2016:27820952}" "" "c.1317G>A p.W439X" "" "Unknown" "" "" "0" "" "" "g.94078629C>T" "" "pathogenic (recessive)" ""
"0000774729" "0" "90" "1" "94544185" "94544185" "subst" "8.12137E-6" "01695" "ABCA4_000177" "g.94544185C>T" "" "{PMID:Fakin 2016:27820952}" "" "c.1317G>A p.W439X" "" "Unknown" "" "" "0" "" "" "g.94078629C>T" "" "pathogenic (recessive)" ""
"0000774730" "0" "90" "1" "94502706" "94502706" "subst" "0" "01695" "ABCA4_000597" "g.94502706C>A" "" "{PMID:Fakin 2016:27820952}" "" "c.3808G>T p.E1270X" "" "Unknown" "" "" "0" "" "" "g.94037150C>A" "" "pathogenic (recessive)" ""
"0000774731" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Fakin 2016:27820952}" "" "c.5882G>A p.G1961E" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000774732" "0" "90" "1" "94568687" "94568687" "subst" "1.62641E-5" "01695" "ABCA4_000024" "g.94568687G>A" "" "{PMID:Fakin 2016:27820952}" "" "c.454C>T p.R152X" "" "Unknown" "" "" "0" "" "" "g.94103131G>A" "" "pathogenic (recessive)" ""
"0000774733" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Fakin 2016:27820952}" "" "c.5461-10T>C Splice" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000774734" "0" "70" "1" "94463399" "94463413" "del" "0" "01695" "ABCA4_000851" "g.94463399_94463413del" "" "{PMID:Fakin 2016:27820952}" "" "c.6729+4del15 Splice" "" "Unknown" "" "" "0" "" "" "g.93997843_93997857del" "" "likely pathogenic (recessive)" ""
"0000774735" "0" "90" "1" "94544895" "94544895" "subst" "1.62455E-5" "01695" "ABCA4_000329" "g.94544895G>A" "" "{PMID:Fakin 2016:27820952}" "" "c.1222C>T p.R408X" "" "Unknown" "" "" "0" "" "" "g.94079339G>A" "" "pathogenic (recessive)" ""
"0000774736" "0" "70" "1" "94463399" "94463413" "del" "0" "01695" "ABCA4_000851" "g.94463399_94463413del" "" "{PMID:Fakin 2016:27820952}" "" "c.6729+4del15 Splice" "" "Unknown" "" "" "0" "" "" "g.93997843_93997857del" "" "likely pathogenic (recessive)" ""
"0000774737" "0" "90" "1" "94506894" "94506895" "delins" "0" "01695" "ABCA4_000621" "g.94506894_94506895delinsC" "" "{PMID:Fakin 2016:27820952}{PMID:Fujinami 2019:29925512}{PMID:Fakin 2016:27583828}" "" "c.3392delCCinsG p.A1131fs" "" "Unknown" "" "" "0" "" "" "g.94041338_94041339delinsC" "" "pathogenic (recessive)" ""
"0000774738" "0" "90" "1" "94463434" "94463434" "subst" "0" "01695" "ABCA4_000856" "g.94463434G>A" "" "{PMID:Fakin 2016:27820952}" "" "c.6714C>T p.Q2238X" "" "Unknown" "" "" "0" "" "" "g.93997878G>A" "" "pathogenic (recessive)" ""
"0000774739" "0" "90" "1" "94471026" "94471026" "subst" "1.21925E-5" "01695" "ABCA4_000791" "g.94471026G>A" "" "{PMID:Fakin 2016:27820952}" "" "c.6118C>T p.R2040X" "" "Unknown" "" "" "0" "" "" "g.94005470G>A" "" "pathogenic (recessive)" ""
"0000774740" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Fakin 2016:27820952}" "" "c.5461-10T>C Splice" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000774741" "0" "90" "1" "94544185" "94544185" "subst" "8.12137E-6" "01695" "ABCA4_000177" "g.94544185C>T" "" "{PMID:Fakin 2016:27820952}" "" "c.1317G>A p.W439X" "" "Unknown" "" "" "0" "" "" "g.94078629C>T" "" "pathogenic (recessive)" ""
"0000774742" "0" "90" "1" "94528164" "94528164" "subst" "2.03336E-5" "01695" "ABCA4_000267" "g.94528164G>A" "" "{PMID:Fakin 2016:27820952}" "" "c.1906C>T p.Q636X" "" "Unknown" "" "" "0" "" "" "g.94062608G>A" "" "pathogenic (recessive)" ""
"0000774743" "0" "90" "1" "94544185" "94544185" "subst" "8.12137E-6" "01695" "ABCA4_000177" "g.94544185C>T" "" "{PMID:Fakin 2016:27820952}" "" "c.1317G>A p.W439X" "" "Unknown" "" "" "0" "" "" "g.94078629C>T" "" "pathogenic (recessive)" ""
"0000774744" "0" "90" "1" "94528164" "94528164" "subst" "2.03336E-5" "01695" "ABCA4_000267" "g.94528164G>A" "" "{PMID:Fakin 2016:27820952}" "" "c.1906C>T p.Q636X" "" "Unknown" "" "" "0" "" "" "g.94062608G>A" "" "pathogenic (recessive)" ""
"0000774745" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Fakin 2016:27820952}" "" "c.5461-10T>C Splice" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000774746" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Fakin 2016:27820952}" "" "c.5461-10T>C Splice" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000774747" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Fakin 2016:27820952}" "" "c.5461-10T>C Splice" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000774748" "0" "90" "1" "94528164" "94528164" "subst" "2.03336E-5" "01695" "ABCA4_000267" "g.94528164G>A" "" "{PMID:Fakin 2016:27820952}" "" "c.1906C>T p.Q636X" "" "Unknown" "" "" "0" "" "" "g.94062608G>A" "" "pathogenic (recessive)" ""
"0000774749" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Fakin 2016:27820952}" "" "c.5461-10T>C Splice" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000774750" "0" "90" "1" "94564383" "94564383" "subst" "0" "01695" "ABCA4_000371" "g.94564383A>C" "" "{PMID:Fakin 2016:27820952}" "" "c.735T>G p.Y245X" "" "Unknown" "" "" "0" "" "" "g.94098827A>C" "" "pathogenic (recessive)" ""
"0000774751" "0" "90" "1" "94485173" "94485174" "del" "0" "01695" "ABCA4_000468" "g.94485173_94485174del" "" "{PMID:Fakin 2016:27820952}" "" "c.5160del2 p.T1721fs" "" "Unknown" "" "" "0" "" "" "g.94019617_94019618del" "" "pathogenic (recessive)" ""
"0000774752" "0" "90" "1" "94508435" "94508436" "dup" "0" "01695" "ABCA4_000998" "g.94508435_94508436dup" "" "{PMID:Fakin 2016:27820952}" "" "c.3210ins2 p.S1071fs" "" "Unknown" "" "" "0" "" "" "g.94042879_94042880dup" "" "pathogenic (recessive)" ""
"0000774753" "0" "90" "1" "94528164" "94528164" "subst" "2.03336E-5" "01695" "ABCA4_000267" "g.94528164G>A" "" "{PMID:Fakin 2016:27820952}" "" "c.1906C>T p.Q636X" "" "Unknown" "" "" "0" "" "" "g.94062608G>A" "" "pathogenic (recessive)" ""
"0000774754" "0" "90" "1" "94528164" "94528164" "subst" "2.03336E-5" "01695" "ABCA4_000267" "g.94528164G>A" "" "{PMID:Fakin 2016:27820952}" "" "c.1906C>T p.Q636X" "" "Unknown" "" "" "0" "" "" "g.94062608G>A" "" "pathogenic (recessive)" ""
"0000774755" "0" "90" "1" "94508435" "94508436" "dup" "0" "01695" "ABCA4_000998" "g.94508435_94508436dup" "" "{PMID:Fakin 2016:27820952}" "" "c.3210insTG p.S1071Cfs" "" "Unknown" "" "" "0" "" "" "g.94042879_94042880dup" "" "pathogenic (recessive)" ""
"0000774756" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Fakin 2016:27820952}" "" "c.5461-10T>C Splice" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000774757" "0" "90" "1" "94528164" "94528164" "subst" "2.03336E-5" "01695" "ABCA4_000267" "g.94528164G>A" "" "{PMID:Fakin 2016:27820952}" "" "c.1906C>T p.Q636X" "" "Unknown" "" "" "0" "" "" "g.94062608G>A" "" "pathogenic (recessive)" ""
"0000774758" "0" "90" "1" "94564463" "94564463" "subst" "0" "01695" "ABCA4_000381" "g.94564463T>A" "" "{PMID:Fakin 2016:27820952}" "" "c.655A>T p.R219X" "" "Unknown" "" "" "0" "" "" "g.94098907T>A" "" "pathogenic (recessive)" ""
"0000774759" "0" "90" "1" "94543288" "94543288" "dup" "0" "01695" "ABCA4_002115" "g.94543288dup" "" "{PMID:Fakin 2016:27820952}" "" "c.1511insC p.N504fs" "" "Unknown" "" "" "0" "" "" "g.94077732dup" "" "pathogenic (recessive)" ""
"0000774760" "0" "90" "1" "94528164" "94528164" "subst" "2.03336E-5" "01695" "ABCA4_000267" "g.94528164G>A" "" "{PMID:Fakin 2016:27820952}" "" "c.1906C>T Q636X" "" "Unknown" "" "" "0" "" "" "g.94062608G>A" "" "pathogenic (recessive)" ""
"0000774761" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Fakin 2016:27820952}" "" "c.5461-10T>C Splice" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000774762" "0" "90" "1" "94528164" "94528164" "subst" "2.03336E-5" "01695" "ABCA4_000267" "g.94528164G>A" "" "{PMID:Fakin 2016:27820952}{PMID:Georgiou 2019:31812472}" "" "c.1906C>T Q636X" "" "Unknown" "" "" "0" "" "" "g.94062608G>A" "" "pathogenic (recessive)" ""
"0000774763" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Fakin 2016:27820952}" "" "c.5461-10T>C Splice" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000774764" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Fakin 2016:27820952}" "" "c.5461-10T>C Splice" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000774765" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Fakin 2016:27820952}" "" "c.5461-10T>C Splice" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000774766" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Fakin 2016:27820952}" "" "c.5461-10T>C Splice" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000774767" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Fakin 2016:27820952}" "" "c.5461-10T>C Splice" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000774768" "0" "90" "1" "94463488" "94463488" "subst" "5.2803E-5" "01695" "ABCA4_000802" "g.94463488G>A" "" "{PMID:Fakin 2016:27820952}" "" "c.6658 C>T p.Q2220X" "" "Unknown" "" "" "0" "" "" "g.93997932G>A" "" "pathogenic (recessive)" ""
"0000774769" "0" "90" "1" "94544185" "94544185" "subst" "8.12137E-6" "01695" "ABCA4_000177" "g.94544185C>T" "" "{PMID:Fakin 2016:27820952}" "" "c.1317G>A p.W439X" "" "Unknown" "" "" "0" "" "" "g.94078629C>T" "" "pathogenic (recessive)" ""
"0000774770" "0" "90" "1" "94544163" "94544163" "subst" "0" "01695" "ABCA4_002129" "g.94544163G>A" "" "{PMID:Fakin 2016:27820952}" "" "c.1339C>T p.Q447X" "" "Unknown" "" "" "0" "" "" "g.94078607G>A" "" "pathogenic (recessive)" ""
"0000774771" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Fakin 2016:27820952}" "" "c.5461-10T>C Splice" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000774772" "0" "90" "1" "94578596" "94578596" "subst" "4.06478E-6" "01695" "ABCA4_000250" "g.94578596C>T" "" "{PMID:Fakin 2016:27820952}" "" "c.93G>A p.W31X" "" "Unknown" "" "" "0" "" "" "g.94113040C>T" "" "pathogenic (recessive)" ""
"0000774773" "2" "70" "1" "94546090" "94546090" "subst" "0" "01695" "ABCA4_001511" "g.94546090A>C" "" "{PMID:Roberts 2016:27898983}" "" "c.1043T>G; p.(Phe348Cys)" "" "Unknown" "yes" "" "0" "" "" "g.94080534A>C" "" "likely pathogenic (recessive)" ""
"0000774774" "2" "70" "1" "94546090" "94546090" "subst" "0" "01695" "ABCA4_001511" "g.94546090A>C" "" "{PMID:Roberts 2016:27898983}" "" "c.1043T>G; p.(Phe348Cys)" "" "Unknown" "yes" "" "0" "" "" "g.94080534A>C" "" "likely pathogenic (recessive)" ""
"0000774775" "0" "70" "1" "94577093" "94577093" "subst" "8.12394E-6" "01695" "ABCA4_000147" "g.94577093G>A" "" "{PMID:Zolnikova 2017:27939946}" "" "c.203C>T Pro68Leu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94111537G>A" "" "likely pathogenic (recessive)" ""
"0000774776" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Zolnikova 2017:27939946}" "" "?.2588G>C Gly863Ala Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000774777" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Zolnikova 2017:27939946}" "" "c.3113C>T Ala1038Val Heterozygous" "in this patient 2 variants were identified in the RDH12 gene as well: c.133A>G Thr45Ala Heterozygously, c.482G>A Arg161Gln Heterozygously" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000774778" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Zolnikova 2017:27939946}" "" "c.1622T>C Leu541Pro Heterozygous" "in this patient 2 variants were identified in the RDH12 gene as well: c.133A>G Thr45Ala Heterozygously, c.482G>A Arg161Gln Heterozygously" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000774779" "0" "70" "1" "94474389" "94474389" "subst" "0" "01695" "ABCA4_001493" "g.94474389T>A" "" "{PMID:Zolnikova 2017:27939946}" "" "c.5753A>T Asp1918Val Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94008833T>A" "" "likely pathogenic (recessive)" ""
"0000774780" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Lambertus 2016:28002570}" "" "c.2588G>C p.[Gly863Ala, Gly863del]" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000774781" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Lambertus 2016:28002570}" "" "c.5714+5G>A p.[=, ?]" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000774782" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Lambertus 2016:28002570}" "" "c.2588G>C p.[Gly863Ala, Gly863del]" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000774783" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Lambertus 2016:28002570}" "" "c.2588G>C p.[Gly863Ala, Gly863del]" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000774784" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Lambertus 2016:28002570}" "" "c.2588G>C p.[Gly863Ala, Gly863del]" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000774785" "1" "50" "1" "94496039" "94496039" "subst" "0.00157963" "01695" "ABCA4_000552" "g.94496039C>T" "" "{PMID:Lambertus 2016:28002570}" "" "c.1853G>A;4297G>A p.(Gly618Glu;Val1433Ile)" "" "Unknown" "" "" "0" "" "" "g.94030483C>T" "" "VUS" ""
"0000774786" "2" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Lambertus 2016:28002570}" "" "c.2588G>C p.[Gly863Ala, Gly863del]" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000774787" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Lambertus 2016:28002570}" "" "c.2588G>C p.[Gly863Ala, Gly863del]" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000774788" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Lambertus 2016:28002570}" "" "c.5461-10T>C p.(Thr1821Valfs*13, Thr1821Aspfs*6)" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000774789" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Lambertus 2016:28002570}" "" "c.2588G>C p.[Gly863Ala, Gly863del]" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000774790" "0" "70" "1" "94512487" "94512487" "subst" "0" "01695" "ABCA4_000682" "g.94512487T>C" "" "{PMID:Lambertus 2016:28002570}" "" "c.2906A>G p.(Lys969Arg)" "" "Unknown" "" "" "0" "" "" "g.94046931T>C" "" "likely pathogenic (recessive)" ""
"0000774791" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Lambertus 2016:28002570}" "" "c.2588G>C p.[Gly863Ala, Gly863del]" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000774792" "0" "50" "1" "94487490" "94487490" "subst" "0.00122268" "01695" "ABCA4_000506" "g.94487490A>G" "" "{PMID:Lambertus 2016:28002570}" "" "c.4685T>C p.(Ile1562Thr)" "" "Unknown" "" "" "0" "" "" "g.94021934A>G" "" "VUS" ""
"0000774793" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Lambertus 2016:28002570}" "" "c.2588G>C p.[Gly863Ala, Gly863del]" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000774794" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Lambertus 2016:28002570}" "" "c.2588G>C p.[Gly863Ala, Gly863del]" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000774795" "0" "70" "1" "94476865" "94476865" "subst" "2.03107E-5" "01695" "ABCA4_000430" "g.94476865A>G" "" "{PMID:Lambertus 2016:28002570}" "" "c.5537T>C p.(Ile1846Thr)" "" "Unknown" "" "" "0" "" "" "g.94011309A>G" "" "likely pathogenic (recessive)" ""
"0000774796" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Lambertus 2016:28002570}" "" "c.5882G>A p.(Gly1961Glu)" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000774797" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Lambertus 2016:28002570}" "" "c.5882G>A p.(Gly1961Glu)" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000774798" "0" "10" "1" "94466659" "94466659" "subst" "0.155961" "01695" "ABCA4_000953" "g.94466659A>G" "" "{PMID:Lambertus 2016:28002570}" "" "c.6285T>C p.(Asp2095Asp)" "" "Unknown" "" "" "0" "" "" "g.94001103A>G" "" "benign" ""
"0000774799" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Lambertus 2016:28002570}" "" "c.2588G>C p.[Gly863Ala, Gly863del]" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000774800" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Lambertus 2016:28002570}" "" "c.1622T>C;3113C>T p.[Leu541Pro;Ala1038Val]" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000774801" "2" "90" "1" "94466628" "94466628" "subst" "0.000109748" "01695" "ABCA4_000094" "g.94466628G>A" "" "{PMID:Lambertus 2016:28002570}" "" "c.6316C>T p.(Arg2106Cys)" "" "Unknown" "" "" "0" "" "" "g.94001072G>A" "" "pathogenic (recessive)" ""
"0000774802" "0" "90" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Lambertus 2016:28002570}" "" "c.6320G>A p.(Arg2107His)" "" "Unknown" "" "" "0" "" "" "g.94001068C>T" "" "pathogenic (recessive)" ""
"0000774803" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Lambertus 2016:28002570}" "" "c.5714+5G>A p.[=, ?]" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000774804" "0" "90" "1" "94508386" "94508386" "subst" "1.62443E-5" "01695" "ABCA4_000642" "g.94508386C>T" "" "{PMID:Lambertus 2016:28002570}" "" "c.3259G>A p.(Glu1087Lys)" "" "Unknown" "" "" "0" "" "" "g.94042830C>T" "" "pathogenic (recessive)" ""
"0000774805" "0" "90" "1" "94508386" "94508386" "subst" "1.62443E-5" "01695" "ABCA4_000642" "g.94508386C>T" "" "{PMID:Lambertus 2016:28002570}" "" "c.3259G>A p.(Glu1087Lys)" "" "Unknown" "" "" "0" "" "" "g.94042830C>T" "" "pathogenic (recessive)" ""
"0000774806" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Lambertus 2016:28002570}" "" "c.4139C>T p.(Pro1380Leu)" "" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000774807" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Lambertus 2016:28002570}" "" "c.5882G>A p.(Gly1961Glu)" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000774808" "11" "90" "1" "94505685" "94505685" "subst" "0" "01695" "ABCA4_001893" "g.94505685T>C" "" "{PMID:Zhang 2016:28050124}" "" "NM_000350.2; c.3523–2A>G" "" "Unknown" "yes" "" "0" "" "" "g.94040129T>C" "" "pathogenic (recessive)" ""
"0000774809" "11" "90" "1" "94505685" "94505685" "subst" "0" "01695" "ABCA4_001893" "g.94505685T>C" "" "{PMID:Zhang 2016:28050124}" "" "NM_000350.2; c.3523–2A>G" "" "Unknown" "yes" "" "0" "" "" "g.94040129T>C" "" "pathogenic (recessive)" ""
"0000774810" "11" "90" "1" "94505685" "94505685" "subst" "0" "01695" "ABCA4_001893" "g.94505685T>C" "" "{PMID:Zhang 2016:28050124}" "" "NM_000350.2; c.3523–2A>G" "" "Unknown" "yes" "" "0" "" "" "g.94040129T>C" "" "pathogenic (recessive)" ""
"0000774811" "0" "70" "1" "94473788" "94473788" "del" "0" "01695" "ABCA4_000398" "g.94473788del" "" "{PMID:Rizzo 2017:28121212}" "" "c.5898+5del (p.?)" "" "Unknown" "" "" "0" "" "" "g.94008232del" "" "likely pathogenic (recessive)" ""
"0000774812" "3" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Biswas 2017:28130426}" "" "c.5461–10T>C" "" "Germline" "yes" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000774813" "3" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Biswas 2017:28130426}" "" "c.5461–10T>C" "" "Germline" "yes" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000774814" "3" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Biswas 2017:28130426}" "" "c.5461–10T>C" "" "Germline" "yes" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000774815" "2" "90" "1" "94544895" "94544895" "subst" "1.62455E-5" "01695" "ABCA4_000329" "g.94544895G>A" "" "{PMID:Bravo-Gil 2017:28157192}" "" "c.1222C> T p.R408*" "" "Unknown" "yes" "" "0" "" "" "g.94079339G>A" "" "pathogenic (recessive)" ""
"0000774816" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Klufas 2017:28248825}" "" "c.2588G.C" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000774817" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Klufas 2017:28248825}" "" "c.5882G.A" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000774818" "0" "30" "1" "94463396" "94463396" "subst" "0.00599713" "01695" "ABCA4_000139" "g.94463396G>A" "" "{PMID:Klufas 2017:28248825}" "" "c.6729+21C.T" "" "Unknown" "" "" "0" "" "" "g.93997840G>A" "" "likely benign" ""
"0000774819" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Klufas 2017:28248825}" "" "c.5882G.A" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000774820" "0" "50" "1" "94496080" "94496080" "subst" "0.000982813" "01695" "ABCA4_000558" "g.94496080A>G" "" "{PMID:Klufas 2017:28248825}" "" "c.4256T.C" "" "Unknown" "" "" "0" "" "" "g.94030524A>G" "" "VUS" ""
"0000774821" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Klufas 2017:28248825}" "" "c.5882G.A" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000774822" "0" "90" "1" "94473278" "94473278" "del" "3.25908E-5" "01695" "ABCA4_000392" "g.94473278del" "" "{PMID:Klufas 2017:28248825}" "" "c.5917delG" "" "Unknown" "" "" "0" "" "" "g.94007722del" "" "pathogenic (recessive)" ""
"0000774823" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Klufas 2017:28248825}" "" "c.3113C.T" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000774824" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Klufas 2017:28248825}" "" "c.4139C.T" "" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000774825" "0" "70" "1" "94486896" "94486896" "subst" "3.65562E-5" "01695" "ABCA4_000085" "g.94486896G>A" "" "{PMID:Klufas 2017:28248825}" "" "c.4918C.T" "" "Unknown" "" "" "0" "" "" "g.94021340G>A" "" "likely pathogenic (recessive)" ""
"0000774826" "1" "10" "1" "94512565" "94512565" "subst" "0.030364" "01695" "ABCA4_000002" "g.94512565C>T" "" "{PMID:Klufas 2017:28248825}" "" "c.2828G.A" "" "Unknown" "" "" "0" "" "" "g.94047009C>T" "" "benign" ""
"0000774827" "0" "70" "1" "94471055" "94471055" "subst" "0.00035346" "01695" "ABCA4_000029" "g.94471055C>T" "" "{PMID:Klufas 2017:28248825}" "" "c.6089G.A" "" "Unknown" "" "" "0" "" "" "g.94005499C>T" "" "likely pathogenic (recessive)" ""
"0000774828" "0" "90" "1" "94473789" "94473789" "subst" "0" "01695" "ABCA4_001644" "g.94473789A>G" "" "{PMID:Klufas 2017:28248825}" "" "c.5898+2T.C" "" "Unknown" "" "" "0" "" "" "g.94008233A>G" "" "pathogenic (recessive)" ""
"0000774829" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Klufas 2017:28248825}" "" "c.5714+5G.A" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000774830" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Klufas 2017:28248825}" "" "c.3113C.T" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000774831" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Klufas 2017:28248825}" "" "c.5461-10T.C" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000774832" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Klufas 2017:28248825}" "" "c2588G.C" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000774833" "0" "50" "1" "94481401" "94481401" "subst" "4.09199E-6" "01695" "ABCA4_000460" "g.94481401A>G" "" "{PMID:Klufas 2017:28248825}" "" "c.5206T.C" "" "Unknown" "" "" "0" "" "" "g.94015845A>G" "" "VUS" ""
"0000774834" "0" "70" "1" "94463460" "94463460" "subst" "6.90507E-5" "01695" "ABCA4_000799" "g.94463460A>G" "" "{PMID:Klufas 2017:28248825}" "" "c.6686T.C" "" "Unknown" "" "" "0" "" "" "g.93997904A>G" "" "likely pathogenic (recessive)" ""
"0000774835" "1" "70" "1" "94496583" "94496583" "subst" "2.03092E-5" "01695" "ABCA4_000190" "g.94496583A>G" "" "{PMID:Klufas 2017:28248825}" "" "c.4222T.C and c.4918C.T" "" "Unknown" "" "" "0" "" "" "g.94031027A>G" "" "likely pathogenic (recessive)" ""
"0000774836" "1" "70" "1" "94486896" "94486896" "subst" "3.65562E-5" "01695" "ABCA4_000085" "g.94486896G>A" "" "{PMID:Klufas 2017:28248825}" "" "c.4222T.C and c.4918C.T" "" "Unknown" "" "" "0" "" "" "g.94021340G>A" "" "likely pathogenic (recessive)" ""
"0000774837" "0" "70" "1" "94546115" "94546115" "subst" "0" "01695" "ABCA4_000984" "g.94546115A>G" "" "{PMID:Klufas 2017:28248825}" "" "c.1018T.C" "" "Unknown" "" "" "0" "" "" "g.94080559A>G" "" "likely pathogenic (recessive)" ""
"0000774838" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Klufas 2017:28248825}" "" "c.2588G.C" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000774839" "0" "70" "1" "94467475" "94467475" "subst" "3.65542E-5" "01695" "ABCA4_000171" "g.94467475C>A" "" "{PMID:Klufas 2017:28248825}" "" "c.6221G.T" "" "Unknown" "" "" "0" "" "" "g.94001919C>A" "" "likely pathogenic (recessive)" ""
"0000774840" "0" "70" "1" "94508341" "94508341" "subst" "1.21857E-5" "01695" "ABCA4_001298" "g.94508341C>A" "" "{PMID:Klufas 2017:28248825}" "" "c.3304G.T" "" "Unknown" "" "" "0" "" "" "g.94042785C>A" "" "likely pathogenic (recessive)" ""
"0000774841" "1" "70" "1" "94496583" "94496583" "subst" "2.03092E-5" "01695" "ABCA4_000190" "g.94496583A>G" "" "{PMID:Klufas 2017:28248825}" "" "c.4222T.C and c.4918C.T" "" "Unknown" "" "" "0" "" "" "g.94031027A>G" "" "likely pathogenic (recessive)" ""
"0000774842" "1" "70" "1" "94486896" "94486896" "subst" "3.65562E-5" "01695" "ABCA4_000085" "g.94486896G>A" "" "{PMID:Klufas 2017:28248825}" "" "c.4222T.C and c.4918C.T" "" "Unknown" "" "" "0" "" "" "g.94021340G>A" "" "likely pathogenic (recessive)" ""
"0000774843" "0" "90" "1" "94485137" "94485137" "subst" "0" "01695" "ABCA4_000464" "g.94485137C>T" "" "{PMID:Klufas 2017:28248825}" "" "c.5196+1G.A" "" "Unknown" "" "" "0" "" "" "g.94019581C>T" "" "pathogenic (recessive)" ""
"0000774844" "0" "70" "1" "94522386" "94522386" "subst" "0" "01695" "ABCA4_000746" "g.94522386C>T" "" "{PMID:Klufas 2017:28248825}" "" "c.2161-8G.A" "" "Unknown" "" "" "0" "" "" "g.94056830C>T" "" "likely pathogenic (recessive)" ""
"0000774845" "0" "70" "1" "94496583" "94496583" "subst" "2.03092E-5" "01695" "ABCA4_000190" "g.94496583A>G" "" "{PMID:Klufas 2017:28248825}" "" "c.4222T.C and c.4918C.T" "" "Unknown" "" "" "0" "" "" "g.94031027A>G" "" "likely pathogenic (recessive)" ""
"0000774846" "0" "70" "1" "94486896" "94486896" "subst" "3.65562E-5" "01695" "ABCA4_000085" "g.94486896G>A" "" "{PMID:Klufas 2017:28248825}" "" "c.4222T.C and c.4918C.T" "" "Unknown" "" "" "0" "" "" "g.94021340G>A" "" "likely pathogenic (recessive)" ""
"0000774847" "0" "90" "1" "94473278" "94473278" "del" "3.25908E-5" "01695" "ABCA4_000392" "g.94473278del" "" "{PMID:Lee 2017:28327576}" "" "c.5917del" "" "Unknown" "" "" "0" "" "" "g.94007722del" "" "pathogenic (recessive)" ""
"0000774848" "0" "70" "1" "94496588" "94496588" "subst" "0" "01695" "ABCA4_000567" "g.94496588T>C" "" "{PMID:Lee 2017:28327576}" "" "p.(H1406R)" "" "Unknown" "" "" "0" "" "" "g.94031032T>C" "" "likely pathogenic (recessive)" ""
"0000774849" "0" "90" "1" "94487443" "94487443" "del" "0" "01695" "ABCA4_000503" "g.94487443del" "" "{PMID:Lee 2017:28327576}" "" "c.4734del" "" "Unknown" "" "" "0" "" "" "g.94021887del" "" "pathogenic (recessive)" ""
"0000774850" "0" "70" "1" "94463399" "94463413" "del" "0" "01695" "ABCA4_000851" "g.94463399_94463413del" "" "{PMID:Lee 2017:28327576}" "" "c.6729+5_6729+19del" "" "Unknown" "" "" "0" "" "" "g.93997843_93997857del" "" "likely pathogenic (recessive)" ""
"0000774851" "0" "70" "1" "94463399" "94463413" "del" "0" "01695" "ABCA4_000851" "g.94463399_94463413del" "" "{PMID:Lee 2017:28327576}" "" "c.6729+5_6729+19del" "" "Unknown" "" "" "0" "" "" "g.93997843_93997857del" "" "likely pathogenic (recessive)" ""
"0000774852" "0" "70" "1" "94546283" "94546283" "subst" "8.18311E-5" "01695" "ABCA4_000356" "g.94546283A>G" "" "{PMID:Lee 2017:28327576}" "" "c.859-9T4C" "" "Unknown" "" "" "0" "" "" "g.94080727A>G" "" "likely pathogenic (recessive)" ""
"0000774853" "1" "70" "1" "94546283" "94546283" "subst" "8.18311E-5" "01695" "ABCA4_000356" "g.94546283A>G" "" "{PMID:Lee 2017:28327576}" "" "c.[66G4A;859-9T4C]" "" "Unknown" "" "" "0" "" "" "g.94080727A>G" "" "likely pathogenic (recessive)" ""
"0000774854" "2" "90" "1" "94463488" "94463488" "subst" "5.2803E-5" "01695" "ABCA4_000802" "g.94463488G>A" "" "{PMID:Lee 2017:28327576}" "" "p.(Q2220*)" "" "Unknown" "" "" "0" "" "" "g.93997932G>A" "" "pathogenic (recessive)" ""
"0000774855" "0" "70" "1" "94506880" "94506880" "subst" "0" "01695" "ABCA4_000865" "g.94506880C>A" "" "{PMID:Lee 2017:28327576}" "" "p.(G1136V)" "" "Unknown" "" "" "0" "" "" "g.94041324C>A" "" "likely pathogenic (recessive)" ""
"0000774856" "0" "90" "1" "94473278" "94473278" "del" "3.25908E-5" "01695" "ABCA4_000392" "g.94473278del" "" "{PMID:Lee 2017:28327576}" "" "c.5917del" "" "Unknown" "" "" "0" "" "" "g.94007722del" "" "pathogenic (recessive)" ""
"0000774857" "0" "70" "1" "94528251" "94528251" "subst" "0" "01695" "ABCA4_000283" "g.94528251C>A" "" "{PMID:Lee 2017:28327576}" "" "p.(G607W)" "" "Unknown" "" "" "0" "" "" "g.94062695C>A" "" "likely pathogenic (recessive)" ""
"0000774858" "0" "90" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Lee 2017:28327576}" "" "p.(R212C)" "" "Unknown" "" "" "0" "" "" "g.94098928G>A" "" "pathogenic (recessive)" ""
"0000774859" "0" "90" "1" "94526296" "94526296" "subst" "1.64555E-5" "01695" "ABCA4_000768" "g.94526296G>A" "" "{PMID:Lee 2017:28327576}" "" "p.(R653C)" "" "Unknown" "" "" "0" "" "" "g.94060740G>A" "" "pathogenic (recessive)" ""
"0000774860" "0" "70" "1" "94480241" "94480241" "subst" "7.71705E-5" "01695" "ABCA4_000446" "g.94480241G>A" "" "{PMID:Lee 2017:28327576}" "" "p.(A1773V)" "" "Unknown" "" "" "0" "" "" "g.94014685G>A" "" "likely pathogenic (recessive)" ""
"0000774861" "0" "70" "1" "94476424" "94476424" "subst" "2.43694E-5" "01695" "ABCA4_000418" "g.94476424C>T" "" "{PMID:Lee 2017:28327576}" "" "p.(M1882I)" "" "Unknown" "" "" "0" "" "" "g.94010868C>T" "" "likely pathogenic (recessive)" ""
"0000774862" "0" "90" "1" "94480243" "94480248" "del" "0" "01695" "ABCA4_000863" "g.94480243_94480248del" "" "{PMID:Lee 2017:28327576}{PMID:Zernant 2017:28446513}" "" "c.5313-2_5316del" "" "Unknown" "" "" "0" "" "" "g.94014687_94014692del" "" "pathogenic (recessive)" ""
"0000774863" "0" "70" "1" "94466627" "94466627" "subst" "4.06408E-6" "01695" "ABCA4_000867" "g.94466627C>T" "" "{PMID:Lee 2017:28327576}" "" "p.(R2106H)" "" "Unknown" "" "" "0" "" "" "g.94001071C>T" "" "likely pathogenic (recessive)" ""
"0000774864" "0" "90" "1" "94578527" "94578527" "subst" "0" "01695" "ABCA4_000243" "g.94578527A>G" "" "{PMID:Lee 2017:28327576}" "" "c.160+2T4C" "" "Unknown" "" "" "0" "" "" "g.94112971A>G" "" "pathogenic (recessive)" ""
"0000774865" "0" "70" "1" "94471046" "94471046" "subst" "0" "01695" "ABCA4_000869" "g.94471046A>T" "" "{PMID:Lee 2017:28327576}" "" "p.(L2033H)" "" "Unknown" "" "" "0" "" "" "g.94005490A>T" "" "likely pathogenic (recessive)" ""
"0000774866" "0" "90" "1" "94466391" "94466391" "subst" "0" "01695" "ABCA4_000814" "g.94466391C>T" "" "{PMID:Lee 2017:28327576}" "" "c.6479+1G4A" "" "Unknown" "" "" "0" "" "" "g.94000835C>T" "" "pathogenic (recessive)" ""
"0000774867" "3" "70" "1" "94502328" "94502328" "subst" "0.000255854" "01695" "ABCA4_001035" "g.94502328G>A" "" "{PMID:Lee 2017:28327576}" "" "p.[(A60V;T1277M)]" "" "Unknown" "" "" "0" "" "" "g.94036772G>A" "" "likely pathogenic (recessive)" ""
"0000774868" "3" "70" "1" "94577117" "94577117" "subst" "1.62472E-5" "01695" "ABCA4_000237" "g.94577117G>A" "" "{PMID:Lee 2017:28327576}" "" "p.[(A60V;T1277M)]" "" "Unknown" "" "" "0" "" "" "g.94111561G>A" "" "likely pathogenic (recessive)" ""
"0000774869" "3" "70" "1" "94502328" "94502328" "subst" "0.000255854" "01695" "ABCA4_001035" "g.94502328G>A" "" "{PMID:Lee 2017:28327576}" "" "p.[(A60V;T1277M)]" "" "Unknown" "" "" "0" "" "" "g.94036772G>A" "" "likely pathogenic (recessive)" ""
"0000774870" "1" "90" "1" "94466426" "94466426" "subst" "1.62433E-5" "01695" "ABCA4_000124" "g.94466426G>A" "" "{PMID:Lee 2017:28327576}" "" "p.[(G1961E;R2149*)]" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94000870G>A" "" "pathogenic (recessive)" ""
"0000774871" "0" "90" "1" "94466426" "94466426" "subst" "1.62433E-5" "01695" "ABCA4_000124" "g.94466426G>A" "" "{PMID:Lee 2017:28327576}" "" "p.[(G1961E;R2149*)]" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94000870G>A" "" "pathogenic (recessive)" ""
"0000774872" "0" "90" "1" "94510253" "94510253" "subst" "0.000247694" "01695" "ABCA4_000108" "g.94510253A>G" "" "{PMID:Lee 2017:28327576}" "" "p.(V989A)" "" "Unknown" "" "" "0" "" "" "g.94044697A>G" "" "pathogenic (recessive)" ""
"0000774873" "0" "90" "1" "94510253" "94510253" "subst" "0.000247694" "01695" "ABCA4_000108" "g.94510253A>G" "" "{PMID:Lee 2017:28327576}" "" "p.(V989A)" "" "Unknown" "" "" "0" "" "" "g.94044697A>G" "" "pathogenic (recessive)" ""
"0000774874" "0" "90" "1" "94487401" "94487401" "subst" "0" "01695" "ABCA4_000495" "g.94487401C>A" "" "{PMID:Taylor 2017:28341476}" "" "ABCA4 c.4773+1G>T" "" "Unknown" "" "" "0" "" "" "g.94021845C>A" "" "pathogenic (recessive)" ""
"0000774875" "0" "90" "1" "94463437" "94463437" "dup" "0" "01695" "ABCA4_000797" "g.94463437dup" "" "{PMID:Taylor 2017:28341476}" "" "ABCA4 c.6709dupA, p.(Thr2237fs)" "" "Unknown" "" "" "0" "" "" "g.93997881dup" "" "pathogenic (recessive)" ""
"0000774876" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Taylor 2017:28341476}" "" "ABCA4 c.2588G>C, p.(Gly863Ala)" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000774877" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Taylor 2017:28341476}" "" "ABCA4 c.5461-10T>C hom" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000774878" "0" "90" "1" "94473278" "94473278" "del" "3.25908E-5" "01695" "ABCA4_000392" "g.94473278del" "" "{PMID:Taylor 2017:28341476}" "" "ABCA4 c.5917delG, p.(Val1973*)" "" "Unknown" "" "" "0" "" "" "g.94007722del" "" "pathogenic (recessive)" ""
"0000774879" "0" "90" "1" "94463488" "94463488" "subst" "5.2803E-5" "01695" "ABCA4_000802" "g.94463488G>A" "" "{PMID:Taylor 2017:28341476}" "" "ABCA4 c.6658C>T, p.(Gln2220*)" "" "Unknown" "" "" "0" "" "" "g.93997932G>A" "" "pathogenic (recessive)" ""
"0000774880" "0" "50" "1" "94474381" "94474381" "subst" "1.21849E-5" "01695" "ABCA4_000410" "g.94474381C>T" "" "{PMID:Taylor 2017:28341476}" "" "ABCA4 c.5761G>A, p.(Val1921Met)" "" "Unknown" "" "" "0" "" "" "g.94008825C>T" "" "VUS" ""
"0000774881" "0" "90" "1" "94473278" "94473278" "del" "3.25908E-5" "01695" "ABCA4_000392" "g.94473278del" "" "{PMID:Taylor 2017:28341476}" "" "ABCA4 c.5917delG, p.(Val1973*)" "" "Unknown" "" "" "0" "" "" "g.94007722del" "" "pathogenic (recessive)" ""
"0000774882" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Lambertus 2017:28355279}" "" "c.4139C>T p.(Pro1380Leu)" "" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000774883" "0" "90" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Lambertus 2017:28355279}" "" "c.2894A>G p.(Asn965Ser)" "" "Unknown" "" "" "0" "" "" "g.94046943T>C" "" "pathogenic (recessive)" ""
"0000774884" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Lambertus 2017:28355279}" "" "c.3322C>T p.(Arg1108Cys)" "" "Unknown" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000774885" "0" "70" "1" "94520732" "94520732" "subst" "0" "01695" "ABCA4_000973" "g.94520732T>G" "" "{PMID:Lambertus 2017:28355279}" "" "c.2522A>C p.(Gln841Pro)" "" "Unknown" "" "" "0" "" "" "g.94055176T>G" "" "likely pathogenic (recessive)" ""
"0000774886" "0" "90" "1" "94526296" "94526296" "subst" "1.64555E-5" "01695" "ABCA4_000768" "g.94526296G>A" "" "{PMID:Lambertus 2017:28355279}" "" "c.1957C>T p.(Arg653Cys)" "" "Unknown" "" "" "0" "" "" "g.94060740G>A" "" "pathogenic (recessive)" ""
"0000774887" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Lambertus 2017:28355279}" "" "c.1622T>C;3113C>T p.[Leu541Pro;Ala1038Val]" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000774888" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Lambertus 2017:28355279}" "" "c.3322C>T p.(Arg1108Cys)" "" "Unknown" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000774889" "0" "70" "1" "94508448" "94508448" "subst" "4.06147E-6" "01695" "ABCA4_001941" "g.94508448A>C" "" "{PMID:Lambertus 2017:28355279}" "" "c.3197T>G p.(Met1066Arg)" "" "Unknown" "" "" "0" "" "" "g.94042892A>C" "" "likely pathogenic (recessive)" ""
"0000774890" "0" "70" "1" "94508346" "94508346" "subst" "0" "01695" "ABCA4_000632" "g.94508346A>T" "" "{PMID:Lambertus 2017:28355279}" "" "c.3299T>A p.(Ile1100Asn)" "" "Unknown" "" "" "0" "" "" "g.94042790A>T" "" "likely pathogenic (recessive)" ""
"0000774891" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Lambertus 2017:28355279}" "" "c.4139C>T p.(Pro1380Leu)" "" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000774892" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Lambertus 2017:28355279}" "" "c.5714+5G>A p.(?)" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000774893" "0" "90" "1" "94526092" "94526092" "subst" "0" "01695" "ABCA4_000749" "g.94526092C>A" "" "{PMID:Lambertus 2017:28355279}" "" "c.2160+1G>T p.(?)" "" "Unknown" "" "" "0" "" "" "g.94060536C>A" "" "pathogenic (recessive)" ""
"0000774894" "0" "70" "1" "94577082" "94577082" "subst" "2.84315E-5" "01695" "ABCA4_000232" "g.94577082C>T" "" "{PMID:Lambertus 2017:28355279}" "" "c.214G>A p.(Gly72Arg)" "" "Unknown" "" "" "0" "" "" "g.94111526C>T" "" "likely pathogenic (recessive)" ""
"0000774895" "0" "70" "1" "94476865" "94476865" "subst" "2.03107E-5" "01695" "ABCA4_000430" "g.94476865A>G" "" "{PMID:Lambertus 2017:28355279}{PMID:Bax 2019:30903310}" "" "c.5537T>C p.(Ile1846Thr)" "" "Unknown" "" "" "0" "" "" "g.94011309A>G" "" "likely pathogenic (recessive)" ""
"0000774896" "0" "70" "1" "94528248" "94528248" "subst" "1.22148E-5" "01695" "ABCA4_000279" "g.94528248A>T" "" "{PMID:Lambertus 2017:28355279}" "" "c.1822T>A p.(Phe608Ile)" "" "Unknown" "" "" "0" "" "" "g.94062692A>T" "" "likely pathogenic (recessive)" ""
"0000774897" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Lambertus 2017:28355279}" "" "c.5714+5G>A p.(?)" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000774898" "0" "90" "1" "94480222" "94480222" "subst" "4.06121E-6" "01695" "ABCA4_000442" "g.94480222G>T" "" "{PMID:Lambertus 2017:28355279}" "" "c.5337C>A p.(Tyr1779*)" "" "Unknown" "" "" "0" "" "" "g.94014666G>T" "" "pathogenic (recessive)" ""
"0000774899" "0" "90" "1" "94487401" "94487401" "subst" "4.06085E-6" "01695" "ABCA4_000995" "g.94487401C>T" "" "{PMID:Lambertus 2017:28355279}" "" "c.4773+1G>A p.(?)" "" "Unknown" "" "" "0" "" "" "g.94021845C>T" "" "pathogenic (recessive)" ""
"0000774900" "0" "90" "1" "94466628" "94466628" "subst" "0.000109748" "01695" "ABCA4_000094" "g.94466628G>A" "" "{PMID:Lambertus 2017:28355279}" "" "c.6316C>T p.(Arg2106Cys)" "" "Unknown" "" "" "0" "" "" "g.94001072G>A" "" "pathogenic (recessive)" ""
"0000774901" "0" "90" "1" "94496571" "94496571" "subst" "4.06174E-6" "01695" "ABCA4_000111" "g.94496571G>A" "" "{PMID:Verdina 2017:28365912}" "" "c.4234C>T (p.Gln1412*)" "" "Unknown" "" "" "0" "" "" "g.94031015G>A" "" "pathogenic (recessive)" ""
"0000774902" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Verdina 2017:28365912}" "" "c.3322C>T (p.Arg1108Cys)" "" "Unknown" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000774903" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Verdina 2017:28365912}" "" "c.5882G>A (p.Gly1961Glu)" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000774904" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Verdina 2017:28365912}" "" "c.5882G>A (p.Gly1961Glu)" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000774905" "0" "70" "1" "94476890" "94476890" "subst" "4.06227E-6" "01695" "ABCA4_000126" "g.94476890G>T" "" "{PMID:Verdina 2017:28365912}" "" "c.5512C>A (p.His1838Asn)" "" "Unknown" "" "" "0" "" "" "g.94011334G>T" "" "likely pathogenic (recessive)" ""
"0000774906" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Verdina 2017:28365912}" "" "c.5714+5G>A (p.?)" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000774907" "0" "90" "1" "94509026" "94509026" "subst" "4.06497E-5" "01695" "ABCA4_000660" "g.94509026G>A" "" "{PMID:Verdina 2017:28365912}" "" "c.3056C>T (p.Thr1019Met" "" "Unknown" "" "" "0" "" "" "g.94043470G>A" "" "pathogenic (recessive)" ""
"0000774908" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Verdina 2017:28365912}" "" "c.5882G>A (p.Gly1961Glu)" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000774909" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Verdina 2017:28365912}" "" "c.5714+5G>A (p.?)" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000774910" "0" "90" "1" "94467413" "94467413" "subst" "8.12612E-6" "01695" "ABCA4_000131" "g.94467413C>G" "" "{PMID:Verdina 2017:28365912}" "" "c.6282+1G>C (p.?)" "" "Unknown" "" "" "0" "" "" "g.94001857C>G" "" "pathogenic (recessive)" ""
"0000774911" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Verdina 2017:28365912}" "" "c.5882G>A (p.Gly1961Glu)" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000774912" "0" "90" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Verdina 2017:28365912}" "" "c.6320G>A (p.Arg2107His)" "" "Unknown" "" "" "0" "" "" "g.94001068C>T" "" "pathogenic (recessive)" ""
"0000774913" "1" "70" "1" "94495090" "94495090" "subst" "0" "01695" "ABCA4_000543" "g.94495090G>A" "" "{PMID:Verdina 2017:28365912}" "" "[c.4450C>T (p.Pro1484Ser);c.5882G>A (p.Gly1961Glu)]" "" "Unknown" "" "" "0" "" "" "g.94029534G>A" "" "likely pathogenic (recessive)" ""
"0000774914" "1" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Verdina 2017:28365912}" "" "[c.4450C>T (p.Pro1484Ser);c.5882G>A (p.Gly1961Glu)]" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000774915" "0" "70" "1" "94487251" "94487251" "subst" "2.85679E-5" "01695" "ABCA4_000490" "g.94487251G>T" "" "{PMID:Verdina 2017:28365912}" "" "c.4793C>A (p.Ala1598Asp)" "" "Unknown" "" "" "0" "" "" "g.94021695G>T" "" "likely pathogenic (recessive)" ""
"0000774916" "0" "70" "1" "94485247" "94485247" "subst" "4.07647E-5" "01695" "ABCA4_000475" "g.94485247C>T" "" "{PMID:Verdina 2017:28365912}" "" "c.5087G>A (p.Ser1696Asn)" "" "Unknown" "" "" "0" "" "" "g.94019691C>T" "" "likely pathogenic (recessive)" ""
"0000774917" "0" "90" "1" "94505675" "94505675" "subst" "0" "01695" "ABCA4_000610" "g.94505675G>T" "" "{PMID:Verdina 2017:28365912}" "" "c.3531C>A (p.Cys1177*)" "" "Unknown" "" "" "0" "" "" "g.94040119G>T" "" "pathogenic (recessive)" ""
"0000774918" "0" "90" "1" "94466452" "94466452" "subst" "4.06088E-6" "01695" "ABCA4_000822" "g.94466452A>T" "" "{PMID:Verdina 2017:28365912}" "" "c.6419T>A (p.Leu2140Gln)" "" "Unknown" "" "" "0" "" "" "g.94000896A>T" "" "pathogenic (recessive)" ""
"0000774919" "0" "90" "1" "94466452" "94466452" "subst" "4.06088E-6" "01695" "ABCA4_000822" "g.94466452A>T" "" "{PMID:Verdina 2017:28365912}" "" "c.6419T>A (p.Leu2140Gln)" "" "Unknown" "" "" "0" "" "" "g.94000896A>T" "" "pathogenic (recessive)" ""
"0000774920" "1" "70" "1" "94508322" "94508322" "subst" "1.62513E-5" "01695" "ABCA4_000128" "g.94508322C>T" "" "{PMID:Verdina 2017:28365912}" "" "c.3323G>A [(p.Arg1108His);c.4297G>A (p.Val1433Ile)]" "" "Unknown" "" "" "0" "" "" "g.94042766C>T" "" "likely pathogenic (recessive)" ""
"0000774921" "1" "50" "1" "94496039" "94496039" "subst" "0.00157963" "01695" "ABCA4_000552" "g.94496039C>T" "" "{PMID:Verdina 2017:28365912}" "" "c.3323G>A [(p.Arg1108His);c.4297G>A (p.Val1433Ile)]" "" "Unknown" "" "" "0" "" "" "g.94030483C>T" "" "VUS" ""
"0000774922" "0" "70" "1" "94485247" "94485247" "subst" "4.07647E-5" "01695" "ABCA4_000475" "g.94485247C>T" "" "{PMID:Verdina 2017:28365912}" "" "c.5087G>A (p.Ser1696Asn)" "" "Unknown" "" "" "0" "" "" "g.94019691C>T" "" "likely pathogenic (recessive)" ""
"0000774923" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Verdina 2017:28365912}" "" "c.5714+5G>A (p.?)" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000774924" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Verdina 2017:28365912}" "" "c.5882G>A (p.Gly1961Glu)" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000774925" "0" "70" "1" "94473266" "94473266" "subst" "8.14677E-6" "01695" "ABCA4_000389" "g.94473266C>T" "" "{PMID:Verdina 2017:28365912}" "" "c.5929G>A (p.Gly1977Ser)" "" "Unknown" "" "" "0" "" "" "g.94007710C>T" "" "likely pathogenic (recessive)" ""
"0000774926" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Verdina 2017:28365912}" "" "c.5714+5G>A (p.?)" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000774927" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Verdina 2017:28365912}" "" "c.5882G>A (p.Gly1961Glu)" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000774928" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Verdina 2017:28365912}" "" "c.5882G>A (p.Gly1961Glu)" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000774929" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Verdina 2017:28365912}" "" "c.5882G>A (p.Gly1961Glu)" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000774930" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Verdina 2017:28365912}" "" "p.[c.1622T>C (p.Leu541Pro);c.3113C>T (p.Ala1038Val)]" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000774931" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Verdina 2017:28365912}" "" "p.[c.1622T>C (p.Leu541Pro);c.3113C>T (p.Ala1038Val)]" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000774932" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Verdina 2017:28365912}" "" "c.5882G>A (p.Gly1961Glu)" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000774933" "0" "70" "1" "94473788" "94473788" "del" "0" "01695" "ABCA4_000398" "g.94473788del" "" "{PMID:Verdina 2017:28365912}" "" "c.5898+5del (p.?)" "" "Unknown" "" "" "0" "" "" "g.94008232del" "" "likely pathogenic (recessive)" ""
"0000774934" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Verdina 2017:28365912}" "" "c.5882G>A (p.Gly1961Glu)" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000774935" "0" "90" "1" "94509026" "94509026" "subst" "4.06497E-5" "01695" "ABCA4_000660" "g.94509026G>A" "" "{PMID:Verdina 2017:28365912}" "" "c.3056C>T (p.T1hr019Met)" "" "Unknown" "" "" "0" "" "" "g.94043470G>A" "" "pathogenic (recessive)" ""
"0000774936" "0" "90" "1" "94522156" "94522156" "subst" "0" "01695" "ABCA4_000732" "g.94522156C>T" "" "{PMID:Verdina 2017:28365912}" "" "c.2382+1G>A (p.?)" "" "Unknown" "" "" "0" "" "" "g.94056600C>T" "" "pathogenic (recessive)" ""
"0000774937" "0" "90" "1" "94505684" "94505684" "subst" "1.73969E-5" "01695" "ABCA4_000102" "g.94505684C>T" "" "{PMID:Verdina 2017:28365912}" "" "c.3523-1G>A (p.?)" "" "Unknown" "" "" "0" "" "" "g.94040128C>T" "" "pathogenic (recessive)" ""
"0000774938" "0" "70" "1" "94467467" "94467467" "subst" "4.06164E-6" "01695" "ABCA4_000780" "g.94467467G>A" "" "{PMID:Verdina 2017:28365912}" "" "c.6229C>T (p.Arg2077Trp)" "" "Unknown" "" "" "0" "" "" "g.94001911G>A" "" "likely pathogenic (recessive)" ""
"0000774939" "0" "70" "1" "94485247" "94485247" "subst" "4.07647E-5" "01695" "ABCA4_000475" "g.94485247C>T" "" "{PMID:Verdina 2017:28365912}" "" "c.5087G>A (p.Ser1696Asn)" "" "Unknown" "" "" "0" "" "" "g.94019691C>T" "" "likely pathogenic (recessive)" ""
"0000774940" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Verdina 2017:28365912}" "" "c.2588G>C (p.Gly863Ala)" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000774941" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Verdina 2017:28365912}" "" "c.6079C>T (p.Leu2027Phe)" "" "Unknown" "" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic (recessive)" ""
"0000774942" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Verdina 2017:28365912}" "" "p.[c.1622T>C (p.Leu541Pro);c.3113C>T (p.Ala1038Val)]" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000774943" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Verdina 2017:28365912}" "" "c.5882G>A (p.Gly1961Glu)" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000774944" "0" "90" "1" "94473189" "94473189" "subst" "0" "01695" "ABCA4_000385" "g.94473189C>A" "" "{PMID:Verdina 2017:28365912}" "" "c.6005+1G>T (p.?)" "" "Unknown" "" "" "0" "" "" "g.94007633C>A" "" "pathogenic (recessive)" ""
"0000774945" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Verdina 2017:28365912}" "" "c.5882G>A (p.Gly1961Glu)" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000774946" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Verdina 2017:28365912}" "" "c.5882G>A (p.Gly1961Glu)" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000774947" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Verdina 2017:28365912}" "" "p.[c.1622T>C (p.Leu541Pro);c.3113C>T (p.Ala1038Val)]" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000774948" "0" "30" "1" "94525509" "94525509" "subst" "0" "01695" "ABCA4_000747" "g.94525509T>C" "" "{PMID:Verdina 2017:28365912}" "" "c.2160+584A>G (p.?)" "" "Unknown" "" "" "0" "" "" "g.94059953T>C" "" "likely benign" ""
"0000774949" "2" "50" "1" "94474320" "94474320" "subst" "4.06065E-6" "01695" "ABCA4_000407" "g.94474320T>G" "" "{PMID:Zernant 2017:28446513}" "" "c.5822A>C (p.His1941Pro)" "" "Unknown" "yes" "" "0" "" "" "g.94008764T>G" "" "VUS" ""
"0000774950" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Zernant 2017:28446513}" "" "+/-" "" "Unknown" "yes" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000774951" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.[1622T>C;3113C>T] (p.[Leu541Pro;Ala1038Val])" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000774952" "2" "70" "1" "94476865" "94476865" "subst" "2.03107E-5" "01695" "ABCA4_000430" "g.94476865A>G" "" "{PMID:Zernant 2017:28446513}" "" "c.5537T>C (p.Ile1846Thr)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94011309A>G" "" "likely pathogenic (recessive)" ""
"0000774953" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Zernant 2017:28446513}" "" "+/-" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000774954" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.6079C>T (p.Leu2027Phe)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic (recessive)" ""
"0000774955" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Zernant 2017:28446513}" "" "+/-" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000774956" "2" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.6079C>T (p.Leu2027Phe)" "" "Unknown" "yes" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic (recessive)" ""
"0000774957" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Zernant 2017:28446513}" "" "+/-" "" "Unknown" "yes" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000774958" "0" "50" "1" "94496010" "94496010" "subst" "1.62434E-5" "01695" "ABCA4_000549" "g.94496010G>T" "" "{PMID:Zernant 2017:28446513}" "" "c.4326C>A (p.Asn1442Lys)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94030454G>T" "" "VUS" ""
"0000774959" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Zernant 2017:28446513}" "" "+/-" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000774960" "0" "90" "1" "94508997" "94508997" "subst" "0" "01695" "ABCA4_000112" "g.94508997G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.3085C>T (p.Gln1029*)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94043441G>A" "" "pathogenic (recessive)" ""
"0000774961" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Zernant 2017:28446513}" "" "+/-" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000774962" "2" "90" "1" "94496571" "94496571" "subst" "4.06174E-6" "01695" "ABCA4_000111" "g.94496571G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.4234C>T (p.Gln1415*)" "" "Unknown" "yes" "" "0" "" "" "g.94031015G>A" "" "pathogenic (recessive)" ""
"0000774963" "1" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Zernant 2017:28446513}" "" "+/-" "" "Unknown" "yes" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000774964" "0" "50" "1" "94485196" "94485196" "subst" "8.239E-6" "01695" "ABCA4_000469" "g.94485196T>C" "" "{PMID:Zernant 2017:28446513}" "" "c.5138A>G (p.Gln1713Arg)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94019640T>C" "" "VUS" ""
"0000774965" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Zernant 2017:28446513}" "" "+/-" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000774966" "2" "90" "1" "94574256" "94574256" "subst" "2.8425E-5" "01695" "ABCA4_000040" "g.94574256G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.319C>T (p.Arg107*)" "" "Unknown" "yes" "" "0" "" "" "g.94108700G>A" "" "pathogenic (recessive)" ""
"0000774967" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Zernant 2017:28446513}" "" "+/-" "" "Unknown" "yes" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000774968" "2" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.3322C>T (p.Arg1108Cys)" "" "Unknown" "yes" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000774969" "1" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Zernant 2017:28446513}" "" "+/-" "" "Unknown" "yes" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000774970" "2" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.3322C>T (p.Arg1108Cys)" "" "Unknown" "yes" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000774971" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Zernant 2017:28446513}" "" "+/-" "" "Unknown" "yes" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000774972" "0" "70" "1" "94486895" "94486895" "subst" "3.24923E-5" "01695" "ABCA4_000484" "g.94486895C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.4919G>A (p.Arg1640Gln)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94021339C>T" "" "likely pathogenic (recessive)" ""
"0000774973" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Zernant 2017:28446513}" "" "+/-" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000774974" "2" "50" "1" "94485220" "94485220" "subst" "0.000106324" "01695" "ABCA4_000121" "g.94485220C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.5114G>A (p.Arg1705Gln)" "" "Unknown" "yes" "" "0" "" "" "g.94019664C>T" "" "VUS" ""
"0000774975" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Zernant 2017:28446513}" "" "+/-" "" "Unknown" "yes" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000774976" "2" "90" "1" "94474364" "94474365" "del" "0" "01695" "ABCA4_001656" "g.94474364_94474365del" "" "{PMID:Zernant 2017:28446513}" "" "c.5778_5779del (p.Arg1927fs)" "" "Unknown" "yes" "" "0" "" "" "g.94008808_94008809del" "" "pathogenic (recessive)" ""
"0000774977" "1" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Zernant 2017:28446513}" "" "+/-" "" "Unknown" "yes" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000774978" "2" "70" "1" "94471055" "94471055" "subst" "0.00035346" "01695" "ABCA4_000029" "g.94471055C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.6089G>A (p.Arg2030Gln)" "" "Unknown" "yes" "" "0" "" "" "g.94005499C>T" "" "likely pathogenic (recessive)" ""
"0000774979" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Zernant 2017:28446513}" "" "+/-" "" "Unknown" "yes" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000774980" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Zernant 2017:28446513}" "" "c.[2041C>T;2588G>C] (p.[Arg681*;Gly863Ala])" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000774981" "0" "90" "1" "94471056" "94471056" "subst" "2.84398E-5" "01695" "ABCA4_000050" "g.94471056G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.6088C>T (p.Arg2030*)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94005500G>A" "" "pathogenic (recessive)" ""
"0000774982" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Zernant 2017:28446513}" "" "+/-" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000774983" "0" "90" "1" "94471056" "94471056" "subst" "2.84398E-5" "01695" "ABCA4_000050" "g.94471056G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.6088C>T (p.Arg2030*)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94005500G>A" "" "pathogenic (recessive)" ""
"0000774984" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Zernant 2017:28446513}" "" "+/-" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000774985" "0" "50" "1" "94471025" "94471025" "subst" "0.00031698" "01695" "ABCA4_000096" "g.94471025C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.6119G>A (p.Arg2040Gln)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94005469C>T" "" "VUS" ""
"0000774986" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Zernant 2017:28446513}" "" "+/-" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000774987" "0" "90" "1" "94526296" "94526296" "subst" "1.64555E-5" "01695" "ABCA4_000768" "g.94526296G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.1957C>T (p.Arg653Cys)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94060740G>A" "" "pathogenic (recessive)" ""
"0000774988" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Zernant 2017:28446513}" "" "+/-" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000774989" "0" "90" "1" "94508435" "94508436" "dup" "0" "01695" "ABCA4_000998" "g.94508435_94508436dup" "" "{PMID:Zernant 2017:28446513}" "" "c.3210_3211dup (p.Ser1071fs)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94042879_94042880dup" "" "pathogenic (recessive)" ""
"0000774990" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Zernant 2017:28446513}" "" "+/-" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000774991" "0" "70" "1" "94506952" "94506952" "subst" "0" "01695" "ABCA4_000628" "g.94506952G>T" "" "{PMID:Zernant 2017:28446513}" "" "c.3335C>A (p.Thr1112Asn)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94041396G>T" "" "likely pathogenic (recessive)" ""
"0000774992" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Zernant 2017:28446513}" "" "+/-" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000774993" "0" "70" "1" "94490567" "94490567" "subst" "5.68528E-5" "01695" "ABCA4_000026" "g.94490567G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.4577C>T (p.Thr1526Met)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94025011G>A" "" "likely pathogenic (recessive)" ""
"0000774994" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Zernant 2017:28446513}" "" "+/-" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000774995" "0" "50" "1" "94463428" "94463428" "subst" "1.62621E-5" "01695" "ABCA4_000854" "g.94463428T>C" "" "{PMID:Zernant 2017:28446513}" "" "c.6718A>G (p.Thr2240Ala)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.93997872T>C" "" "VUS" ""
"0000774996" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Zernant 2017:28446513}" "" "+/-" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000774997" "2" "70" "1" "94510272" "94510272" "subst" "4.06062E-6" "01695" "ABCA4_000070" "g.94510272T>C" "" "{PMID:Zernant 2017:28446513}" "" "c.2947A>G (p.Thr983Ala)" "" "Unknown" "yes" "" "0" "" "" "g.94044716T>C" "" "likely pathogenic (recessive)" ""
"0000774998" "1" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Zernant 2017:28446513}" "" "+/-" "" "Unknown" "yes" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000774999" "2" "70" "1" "94528227" "94528227" "subst" "4.06739E-6" "01695" "ABCA4_002078" "g.94528227C>A" "" "{PMID:Zernant 2017:28446513}" "" "c.1843G>T (p.Val615Phe)" "" "Unknown" "yes" "" "0" "" "" "g.94062671C>A" "" "likely pathogenic (recessive)" ""
"0000775000" "1" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Zernant 2017:28446513}" "" "+/-" "" "Unknown" "yes" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000775001" "0" "90" "1" "94578567" "94578567" "subst" "4.06204E-6" "01695" "ABCA4_000247" "g.94578567C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.122G>A (p.Trp41*)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94113011C>T" "" "pathogenic (recessive)" ""
"0000775002" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Zernant 2017:28446513}" "" "+/-" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000775003" "1" "50" "1" "94502756" "94502756" "subst" "0.000422575" "01695" "ABCA4_000032" "g.94502756G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.[3758C>T;5882G>A] (p.[Thr1253Met;Gly1961Glu])" "" "Unknown" "yes" "" "0" "" "" "g.94037200G>A" "" "VUS" ""
"0000775004" "1" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.[3758C>T;5882G>A] (p.[Thr1253Met;Gly1961Glu])" "" "Unknown" "yes" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000775005" "2" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Zernant 2017:28446513}" "" "+/-" "" "Unknown" "yes" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000775006" "2" "70" "1" "94496583" "94496583" "subst" "2.03092E-5" "01695" "ABCA4_000190" "g.94496583A>G" "" "{PMID:Zernant 2017:28446513}" "" "c.[4222T>C;4918C>T] (p.[Trp1408Arg;Arg1640Trp])" "" "Unknown" "yes" "" "0" "" "" "g.94031027A>G" "" "likely pathogenic (recessive)" ""
"0000775007" "2" "70" "1" "94486896" "94486896" "subst" "3.65562E-5" "01695" "ABCA4_000085" "g.94486896G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.[4222T>C;4918C>T] (p.[Trp1408Arg;Arg1640Trp])" "" "Unknown" "yes" "" "0" "" "" "g.94021340G>A" "" "likely pathogenic (recessive)" ""
"0000775008" "1" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Zernant 2017:28446513}" "" "+/-" "" "Unknown" "yes" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000775009" "1" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.[3758C>T;5882G>A] (p.[Thr1253Met;Gly1961Glu])" "" "Unknown" "yes" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000775010" "2" "90" "1" "94526934" "94526934" "subst" "0" "01695" "ABCA4_000771" "g.94526934T>C" "" "{PMID:Zernant 2017:28446513}" "" "c.1938-619A>G (p.?)" "" "Unknown" "yes" "" "0" "" "" "g.94061378T>C" "" "pathogenic (recessive)" ""
"0000775011" "2" "90" "1" "94526092" "94526092" "subst" "0" "01695" "ABCA4_000748" "g.94526092C>G" "" "{PMID:Zernant 2017:28446513}" "" "c.2160+1G>C (p.?)" "" "Unknown" "yes" "" "0" "" "" "g.94060536C>G" "" "pathogenic (recessive)" ""
"0000775012" "2" "90" "1" "94526092" "94526092" "subst" "0" "01695" "ABCA4_000748" "g.94526092C>G" "" "{PMID:Zernant 2017:28446513}" "" "c.2160+1G>C (p.?)" "" "Unknown" "yes" "" "0" "" "" "g.94060536C>G" "" "pathogenic (recessive)" ""
"0000775013" "0" "90" "1" "94502700" "94502700" "subst" "0" "01695" "ABCA4_001869" "g.94502700C>A" "" "{PMID:Zernant 2017:28446513}" "" "c.3813+1G>T (p.?)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94037144C>A" "" "pathogenic (recessive)" ""
"0000775014" "0" "70" "1" "94496548" "94496548" "subst" "2.43787E-5" "01695" "ABCA4_000088" "g.94496548G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.4253+4C>T (p.?)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94030992G>A" "" "likely pathogenic (recessive)" ""
"0000775015" "0" "70" "1" "94496547" "94496547" "subst" "4.06345E-6" "01695" "ABCA4_000559" "g.94496547C>A" "" "{PMID:Zernant 2017:28446513}" "" "c.4253+5G>T (p.?)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94030991C>A" "" "likely pathogenic (recessive)" ""
"0000775016" "2" "70" "1" "94496547" "94496547" "subst" "4.06345E-6" "01695" "ABCA4_000559" "g.94496547C>A" "" "{PMID:Zernant 2017:28446513}" "" "c.4253+5G>T (p.?)" "" "Unknown" "yes" "" "0" "" "" "g.94030991C>A" "" "likely pathogenic (recessive)" ""
"0000775017" "0" "90" "1" "94495983" "94495983" "subst" "8.12348E-6" "01695" "ABCA4_000547" "g.94495983C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.4352+1G>A (p.?)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94030427C>T" "" "pathogenic (recessive)" ""
"0000775018" "2" "70" "1" "94493000" "94493000" "subst" "0" "01695" "ABCA4_000015" "g.94493000C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.4539+2001G>A (p.?)" "" "Unknown" "yes" "" "0" "" "" "g.94027444C>T" "" "likely pathogenic (recessive)" ""
"0000775019" "0" "70" "1" "94493000" "94493000" "subst" "0" "01695" "ABCA4_000015" "g.94493000C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.4539+2001G>A (p.?)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94027444C>T" "" "likely pathogenic (recessive)" ""
"0000775020" "0" "50" "1" "94492973" "94492973" "subst" "0" "01695" "ABCA4_000030" "g.94492973G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.4539+2028C>T (p.?)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94027417G>A" "" "VUS" ""
"0000775021" "2" "50" "1" "94492973" "94492973" "subst" "0" "01695" "ABCA4_000030" "g.94492973G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.4539+2028C>T (p.?)" "" "Unknown" "yes" "" "0" "" "" "g.94027417G>A" "" "VUS" ""
"0000775022" "0" "50" "1" "94492973" "94492973" "subst" "0" "01695" "ABCA4_000030" "g.94492973G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.4539+2028C>T (p.?)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94027417G>A" "" "VUS" ""
"0000775023" "0" "50" "1" "94492973" "94492973" "subst" "0" "01695" "ABCA4_000030" "g.94492973G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.4539+2028C>T (p.?)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94027417G>A" "" "VUS" ""
"0000775024" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.[1622T>C;3113C>T] (p.[Leu541Pro;Ala1038Val])" "" "Unknown" "yes" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000775025" "2" "90" "1" "94490606" "94490606" "subst" "4.06091E-6" "01695" "ABCA4_000086" "g.94490606T>C" "" "{PMID:Zernant 2017:28446513}" "" "c.4540-2A>G (p.?)" "" "Unknown" "yes" "" "0" "" "" "g.94025050T>C" "" "pathogenic (recessive)" ""
"0000775026" "0" "70" "1" "94487399" "94487399" "subst" "7.30959E-5" "01695" "ABCA4_000038" "g.94487399T>C" "" "{PMID:Zernant 2017:28446513}" "" "c.4773+3A>G (p.?)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94021843T>C" "" "likely pathogenic (recessive)" ""
"0000775027" "0" "90" "1" "94484082" "94484082" "subst" "0" "01695" "ABCA4_000028" "g.94484082T>C" "" "{PMID:Zernant 2017:28446513}" "" "c.5196+1056A>G (p.?)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94018526T>C" "" "pathogenic (recessive)" ""
"0000775028" "0" "90" "1" "94484082" "94484082" "subst" "0" "01695" "ABCA4_000028" "g.94484082T>C" "" "{PMID:Zernant 2017:28446513}" "" "c.5196+1056A>G (p.?)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94018526T>C" "" "pathogenic (recessive)" ""
"0000775029" "2" "90" "1" "94484082" "94484082" "subst" "0" "01695" "ABCA4_000028" "g.94484082T>C" "" "{PMID:Zernant 2017:28446513}" "" "c.5196+1056A>G (p.?)" "" "Unknown" "yes" "" "0" "" "" "g.94018526T>C" "" "pathogenic (recessive)" ""
"0000775030" "0" "90" "1" "94484082" "94484082" "subst" "0" "01695" "ABCA4_000028" "g.94484082T>C" "" "{PMID:Zernant 2017:28446513}" "" "c.5196+1056A>G (p.?)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94018526T>C" "" "pathogenic (recessive)" ""
"0000775031" "2" "70" "1" "94484001" "94484001" "subst" "0" "01695" "ABCA4_000016" "g.94484001C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.5196+1137G>A (p.?)" "" "Unknown" "yes" "" "0" "" "" "g.94018445C>T" "" "likely pathogenic (recessive)" ""
"0000775032" "2" "70" "1" "94484001" "94484001" "subst" "0" "01695" "ABCA4_000016" "g.94484001C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.5196+1137G>A (p.?)" "" "Unknown" "yes" "" "0" "" "" "g.94018445C>T" "" "likely pathogenic (recessive)" ""
"0000775033" "0" "70" "1" "94484001" "94484001" "subst" "0" "01695" "ABCA4_000016" "g.94484001C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.5196+1137G>A (p.?)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94018445C>T" "" "likely pathogenic (recessive)" ""
"0000775034" "2" "70" "1" "94484001" "94484001" "subst" "0" "01695" "ABCA4_000016" "g.94484001C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.5196+1137G>A (p.?)" "" "Unknown" "yes" "" "0" "" "" "g.94018445C>T" "" "likely pathogenic (recessive)" ""
"0000775035" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.[1622T>C;3113C>T] (p.[Leu541Pro;Ala1038Val])" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000775036" "0" "90" "1" "94480098" "94480098" "subst" "0" "01695" "ABCA4_000437" "g.94480098C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.5460+1G>A (p.?)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94014542C>T" "" "pathogenic (recessive)" ""
"0000775037" "0" "90" "1" "94566773" "94566773" "subst" "0" "01695" "ABCA4_000946" "g.94566773T>C" "" "{PMID:Zernant 2017:28446513}" "" "c.570+1798A>G (p.?)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94101217T>C" "" "pathogenic (recessive)" ""
"0000775038" "0" "90" "1" "94566773" "94566773" "subst" "0" "01695" "ABCA4_000946" "g.94566773T>C" "" "{PMID:Zernant 2017:28446513}" "" "c.570+1798A>G (p.?)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94101217T>C" "" "pathogenic (recessive)" ""
"0000775039" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.5714+5G>A (p.?)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000775040" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.[1622T>C;3113C>T] (p.[Leu541Pro;Ala1038Val])" "" "Unknown" "yes" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000775041" "2" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.5714+5G>A (p.?)" "" "Unknown" "yes" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000775042" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.[1622T>C;3113C>T] (p.[Leu541Pro;Ala1038Val])" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000775043" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.5714+5G>A (p.?)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000775044" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.5714+5G>A (p.?)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000775045" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.5714+5G>A (p.?)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000775046" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.5714+5G>A (p.?)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000775047" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.5714+5G>A (p.?)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000775048" "2" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.5714+5G>A (p.?)" "" "Unknown" "yes" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000775049" "2" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.5714+5G>A (p.?)" "" "Unknown" "yes" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000775050" "2" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.5714+5G>A (p.?)" "" "Unknown" "yes" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000775051" "2" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.5714+5G>A (p.?)" "" "Unknown" "yes" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000775052" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.5714+5G>A (p.?)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000775053" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.5714+5G>A (p.?)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000775054" "2" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.5714+5G>A (p.?)" "" "Unknown" "yes" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000775055" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.[1622T>C;3113C>T] (p.[Leu541Pro;Ala1038Val])" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000775056" "0" "70" "1" "94473856" "94473856" "subst" "0" "01695" "ABCA4_000058" "g.94473856G>T" "" "{PMID:Zernant 2017:28446513}" "" "c.5836-3C>A (p.?)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94008300G>T" "" "likely pathogenic (recessive)" ""
"0000775057" "2" "90" "1" "94473189" "94473189" "subst" "0" "01695" "ABCA4_000385" "g.94473189C>A" "" "{PMID:Zernant 2017:28446513}" "" "c.6005+1G>T (p.?)" "" "Unknown" "yes" "" "0" "" "" "g.94007633C>A" "" "pathogenic (recessive)" ""
"0000775058" "0" "50" "1" "94471747" "94471747" "subst" "0" "01695" "ABCA4_000882" "g.94471747A>T" "" "{PMID:Zernant 2017:28446513}" "" "c.6006-609T>A (p.?)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94006191A>T" "" "VUS" ""
"0000775059" "2" "50" "1" "94471747" "94471747" "subst" "0" "01695" "ABCA4_000882" "g.94471747A>T" "" "{PMID:Zernant 2017:28446513}" "" "c.6006-609T>A (p.?)" "" "Unknown" "yes" "" "0" "" "" "g.94006191A>T" "" "VUS" ""
"0000775060" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.[1622T>C;3113C>T] (p.[Leu541Pro;Ala1038Val])" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000775061" "0" "50" "1" "94471747" "94471747" "subst" "0" "01695" "ABCA4_000882" "g.94471747A>T" "" "{PMID:Zernant 2017:28446513}" "" "c.6006-609T>A (p.?)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94006191A>T" "" "VUS" ""
"0000775062" "2" "50" "1" "94471747" "94471747" "subst" "0" "01695" "ABCA4_000882" "g.94471747A>T" "" "{PMID:Zernant 2017:28446513}" "" "c.6006-609T>A (p.?)" "" "Unknown" "yes" "" "0" "" "" "g.94006191A>T" "" "VUS" ""
"0000775063" "0" "50" "1" "94471747" "94471747" "subst" "0" "01695" "ABCA4_000882" "g.94471747A>T" "" "{PMID:Zernant 2017:28446513}" "" "c.6006-609T>A (p.?)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94006191A>T" "" "VUS" ""
"0000775064" "2" "90" "1" "94463476" "94468246" "del" "0" "01695" "ABCA4_001567" "g.94463476_94468246del" "" "{PMID:Zernant 2017:28446513}" "" "c.6148-698_c.6670del (p.?)" "" "Unknown" "yes" "" "0" "" "" "g.93997920_94002690del" "" "pathogenic (recessive)" ""
"0000775065" "2" "90" "1" "94466556" "94466556" "subst" "4.06164E-6" "01695" "ABCA4_000831" "g.94466556G>C" "" "{PMID:Zernant 2017:28446513}" "" "c.6386+2C>G (p.?)" "" "Unknown" "yes" "" "0" "" "" "g.94001000G>C" "" "pathogenic (recessive)" ""
"0000775066" "2" "90" "1" "94466391" "94466391" "subst" "0" "01695" "ABCA4_000814" "g.94466391C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.6479+1G>A (p.?)" "" "Unknown" "yes" "" "0" "" "" "g.94000835C>T" "" "pathogenic (recessive)" ""
"0000775067" "0" "90" "1" "94578188" "94580471" "del" "0" "01695" "ABCA4_002236" "g.94578188_94580471del" "" "{PMID:Zernant 2017:28446513}" "" "c.67-1845_c.160+345del (p.?)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94112632_94114915del" "" "pathogenic (recessive)" ""
"0000775068" "2" "70" "1" "94463399" "94463413" "del" "0" "01695" "ABCA4_000851" "g.94463399_94463413del" "" "{PMID:Zernant 2017:28446513}" "" "c.6729+5_6729+19del (p.?)" "" "Unknown" "yes" "" "0" "" "" "g.93997843_93997857del" "" "likely pathogenic (recessive)" ""
"0000775069" "0" "70" "1" "94463399" "94463413" "del" "0" "01695" "ABCA4_000851" "g.94463399_94463413del" "" "{PMID:Zernant 2017:28446513}" "" "c.6729+5_6729+19del (p.?)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.93997843_93997857del" "" "likely pathogenic (recessive)" ""
"0000775070" "0" "70" "1" "94487402" "94487402" "subst" "0" "01695" "ABCA4_000496" "g.94487402C>G" "" "{PMID:Zernant 2017:28446513}" "" "c.4773G>C (p.?)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94021846C>G" "" "likely pathogenic (recessive)" ""
"0000775071" "0" "70" "1" "94466602" "94466602" "subst" "1.62472E-5" "01695" "ABCA4_000035" "g.94466602C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.6342G>A (p.?)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94001046C>T" "" "likely pathogenic (recessive)" ""
"0000775072" "0" "70" "1" "94506871" "94506871" "subst" "7.30964E-5" "01695" "ABCA4_000103" "g.94506871T>C" "" "{PMID:Zernant 2017:28446513}" "" "c.[3416A>G;6119G>A] (p.[Tyr1139Cys;Arg2040Gln])" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94041315T>C" "" "likely pathogenic (recessive)" ""
"0000775073" "0" "50" "1" "94471025" "94471025" "subst" "0.00031698" "01695" "ABCA4_000096" "g.94471025C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.[3416A>G;6119G>A] (p.[Tyr1139Cys;Arg2040Gln])" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94005469C>T" "" "VUS" ""
"0000775074" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.3113C>T (p.Ala1038Val)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000775075" "2" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.3113C>T (p.Ala1038Val)" "" "Unknown" "yes" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000775076" "2" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.3113C>T (p.Ala1038Val)" "" "Unknown" "yes" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000775077" "2" "70" "1" "94487251" "94487251" "subst" "2.85679E-5" "01695" "ABCA4_000490" "g.94487251G>T" "" "{PMID:Zernant 2017:28446513}" "" "c.4793C>A (p.Ala1598Asp)" "" "Unknown" "yes" "" "0" "" "" "g.94021695G>T" "" "likely pathogenic (recessive)" ""
"0000775078" "2" "70" "1" "94480241" "94480241" "subst" "7.71705E-5" "01695" "ABCA4_000446" "g.94480241G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.5318C>T (p.Ala1773Val)" "" "Unknown" "yes" "" "0" "" "" "g.94014685G>A" "" "likely pathogenic (recessive)" ""
"0000775079" "0" "90" "1" "94471014" "94471036" "dup" "0" "01695" "ABCA4_001617" "g.94471014_94471036dup" "" "{PMID:Zernant 2017:28446513}" "" "c.6108_6130dup (p.Ala2044ValinsProGlyPheGluValTyrGln)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94005458_94005480dup" "" "pathogenic (recessive)" ""
"0000775080" "0" "70" "1" "94495078" "94495078" "subst" "8.37044E-6" "01695" "ABCA4_000042" "g.94495078A>G" "" "{PMID:Zernant 2017:28446513}" "" "c.4462T>C (p.Cys1488Arg)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94029522A>G" "" "likely pathogenic (recessive)" ""
"0000775081" "2" "70" "1" "94466423" "94466423" "subst" "0" "01695" "ABCA4_000818" "g.94466423A>G" "" "{PMID:Zernant 2017:28446513}" "" "c.6448T>C (p.Cys2150Arg)" "" "Unknown" "yes" "" "0" "" "" "g.94000867A>G" "" "likely pathogenic (recessive)" ""
"0000775082" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.[2560G>A;3113C>T] (p.[Ala854Thr;Ala1038Val])" "" "Unknown" "yes" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000775083" "2" "70" "1" "94466422" "94466422" "subst" "2.43651E-5" "01695" "ABCA4_000817" "g.94466422C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.6449G>A (p.Cys2150Tyr)" "" "Unknown" "yes" "" "0" "" "" "g.94000866C>T" "" "likely pathogenic (recessive)" ""
"0000775084" "2" "70" "1" "94466422" "94466422" "subst" "2.43651E-5" "01695" "ABCA4_000817" "g.94466422C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.6449G>A (p.Cys2150Tyr)" "" "Unknown" "yes" "" "0" "" "" "g.94000866C>T" "" "likely pathogenic (recessive)" ""
"0000775085" "0" "70" "1" "94466422" "94466422" "subst" "2.43651E-5" "01695" "ABCA4_000817" "g.94466422C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.6449G>A (p.Cys2150Tyr)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94000866C>T" "" "likely pathogenic (recessive)" ""
"0000775086" "0" "70" "1" "94577135" "94577135" "subst" "2.43718E-5" "01695" "ABCA4_000240" "g.94577135C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.161G>A (p.Cys54Tyr)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94111579C>T" "" "likely pathogenic (recessive)" ""
"0000775087" "0" "70" "1" "94574252" "94574252" "subst" "0" "01695" "ABCA4_000217" "g.94574252T>A" "" "{PMID:Zernant 2017:28446513}" "" "c.323A>T (p.Asp108Val)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94108696T>A" "" "likely pathogenic (recessive)" ""
"0000775088" "0" "70" "1" "94505600" "94505600" "subst" "0" "01695" "ABCA4_001886" "g.94505600A>T" "" "{PMID:Zernant 2017:28446513}" "" "c.3606T>A (p.Asp1202Glu)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94040044A>T" "" "likely pathogenic (recessive)" ""
"0000775089" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.[1622T>C;3113C>T] (p.[Leu541Pro;Ala1038Val])" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000775090" "0" "70" "1" "94528702" "94528702" "subst" "1.62468E-5" "01695" "ABCA4_000293" "g.94528702C>G" "" "{PMID:Zernant 2017:28446513}" "" "c.1726G>C (p.Asp576His)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94063146C>G" "" "likely pathogenic (recessive)" ""
"0000775091" "3" "50" "1" "94528137" "94528137" "subst" "2.03363E-5" "01695" "ABCA4_000774" "g.94528137C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.[1622T>C;1933G>A;3113C>T] (p.[Leu541Pro;Asp645Asn;Ala1038Val])" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94062581C>T" "" "VUS" ""
"0000775092" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.[1622T>C;1933G>A;3113C>T] (p.[Leu541Pro;Asp645Asn;Ala1038Val])" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000775093" "3" "50" "1" "94528137" "94528137" "subst" "2.03363E-5" "01695" "ABCA4_000774" "g.94528137C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.1933G>A (p.Asp645Asn)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94062581C>T" "" "VUS" ""
"0000775094" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.[1622T>C;3113C>T] (p.[Leu541Pro;Ala1038Val])" "" "Unknown" "yes" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000775095" "2" "90" "1" "94508386" "94508386" "subst" "1.62443E-5" "01695" "ABCA4_000642" "g.94508386C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.3259G>A (p.Glu1087Lys)" "" "Unknown" "yes" "" "0" "" "" "g.94042830C>T" "" "pathogenic (recessive)" ""
"0000775096" "2" "90" "1" "94508386" "94508386" "subst" "1.62443E-5" "01695" "ABCA4_000642" "g.94508386C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.3259G>A (p.Glu1087Lys)" "" "Unknown" "yes" "" "0" "" "" "g.94042830C>T" "" "pathogenic (recessive)" ""
"0000775097" "0" "70" "1" "94463452" "94463452" "subst" "9.34412E-5" "01695" "ABCA4_000870" "g.94463452C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.6694G>A (p.Glu2232Lys)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.93997896C>T" "" "likely pathogenic (recessive)" ""
"0000775098" "2" "70" "1" "94496558" "94496560" "del" "0" "01695" "ABCA4_000561" "g.94496558_94496560del" "" "{PMID:Zernant 2017:28446513}" "" "c.4249_4251del (p.Phe1417del)" "" "Unknown" "yes" "" "0" "" "" "g.94031002_94031004del" "" "likely pathogenic (recessive)" ""
"0000775099" "0" "70" "1" "94496018" "94496018" "subst" "0" "01695" "ABCA4_001002" "g.94496018A>C" "" "{PMID:Zernant 2017:28446513}" "" "c.4318T>G (p.Phe1440Val)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94030462A>C" "" "likely pathogenic (recessive)" ""
"0000775100" "0" "70" "1" "94564369" "94564371" "del" "0" "01695" "ABCA4_002176" "g.94564369_94564371del" "" "{PMID:Zernant 2017:28446513}" "" "c.751_753del (p.Phe251del)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94098813_94098815del" "" "likely pathogenic (recessive)" ""
"0000775101" "2" "70" "1" "94505659" "94505659" "subst" "0.000942724" "01695" "ABCA4_000921" "g.94505659C>A" "" "{PMID:Zernant 2017:28446513}" "" "c.3547G>T (p.Gly1183Cys)" "" "Unknown" "yes" "" "0" "" "" "g.94040103C>A" "" "likely pathogenic (recessive)" ""
"0000775102" "2" "50" "1" "94496014" "94496014" "subst" "0" "01695" "ABCA4_000550" "g.94496014C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.4322G>A (p.Gly1441Asp)" "" "Unknown" "yes" "" "0" "" "" "g.94030458C>T" "" "VUS" ""
"0000775103" "1" "50" "1" "94496008" "94496008" "subst" "2.03056E-5" "01695" "ABCA4_000148" "g.94496008C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.[1622T>C;4328G>A] (p.[Leu541Pro;Arg1443His])" "" "Unknown" "yes" "" "0" "" "" "g.94030452C>T" "" "VUS" ""
"0000775104" "2" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.5882G>A (p.Gly1961Glu)" "" "Unknown" "yes" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000775105" "1" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.[3758C>T;5882G>A] (p.[Thr1253Met;Gly1961Glu])" "" "Unknown" "yes" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000775106" "2" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.5882G>A (p.Gly1961Glu)" "" "Unknown" "yes" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000775107" "1" "70" "1" "94471055" "94471055" "subst" "0.00035346" "01695" "ABCA4_000029" "g.94471055C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.[1A>G;6089G>A] (p.[?;Arg2030Gln])" "" "Unknown" "yes" "" "0" "" "" "g.94005499C>T" "" "likely pathogenic (recessive)" ""
"0000775108" "2" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.5882G>A (p.Gly1961Glu)" "" "Unknown" "yes" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000775109" "1" "90" "1" "94495009" "94495009" "del" "0" "01695" "ABCA4_000534" "g.94495009del" "" "{PMID:Zernant 2017:28446513}" "" "c.[3608G>A;4537del] (p.[Gly1203Glu;Gln1513fs])" "" "Unknown" "yes" "" "0" "" "" "g.94029453del" "" "pathogenic (recessive)" ""
"0000775110" "2" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.5882G>A (p.Gly1961Glu)" "" "Unknown" "yes" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000775111" "2" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.5882G>A (p.Gly1961Glu)" "" "Unknown" "yes" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000775112" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.5882G>A (p.Gly1961Glu)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000775113" "2" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.5882G>A (p.Gly1961Glu)" "" "Unknown" "yes" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000775114" "2" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.5882G>A (p.Gly1961Glu)" "" "Unknown" "yes" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000775115" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.5882G>A (p.Gly1961Glu)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000775116" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.5882G>A (p.Gly1961Glu)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000775117" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.5882G>A (p.Gly1961Glu)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000775118" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.5882G>A (p.Gly1961Glu)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000775119" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.[1622T>C;3113C>T] (p.[Leu541Pro;Ala1038Val])" "" "Unknown" "yes" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000775120" "2" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.5882G>A (p.Gly1961Glu)" "" "Unknown" "yes" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000775121" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.[1622T>C;3113C>T] (p.[Leu541Pro;Ala1038Val])" "" "Unknown" "yes" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000775122" "2" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.5882G>A (p.Gly1961Glu)" "" "Unknown" "yes" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000775123" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.[1622T>C;3113C>T] (p.[Leu541Pro;Ala1038Val])" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000775124" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.5882G>A (p.Gly1961Glu)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000775125" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.[1622T>C;3113C>T] (p.[Leu541Pro;Ala1038Val])" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000775126" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.5882G>A (p.Gly1961Glu)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000775127" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.[1622T>C;3113C>T] (p.[Leu541Pro;Ala1038Val])" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000775128" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.5882G>A (p.Gly1961Glu)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000775129" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.[1622T>C;3113C>T] (p.[Leu541Pro;Ala1038Val])" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000775130" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.5882G>A (p.Gly1961Glu)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000775131" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.[1622T>C;3113C>T] (p.[Leu541Pro;Ala1038Val])" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000775132" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.5882G>A (p.Gly1961Glu)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000775133" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.[1622T>C;3113C>T] (p.[Leu541Pro;Ala1038Val])" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000775134" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.5882G>A (p.Gly1961Glu)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000775135" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.[1622T>C;3113C>T] (p.[Leu541Pro;Ala1038Val])" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000775136" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.5882G>A (p.Gly1961Glu)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000775137" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.[1622T>C;3113C>T] (p.[Leu541Pro;Ala1038Val])" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000775138" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.5882G>A (p.Gly1961Glu)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000775139" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.5882G>A (p.Gly1961Glu)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000775140" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.5882G>A (p.Gly1961Glu)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000775141" "2" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.5882G>A (p.Gly1961Glu)" "" "Unknown" "yes" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000775142" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.5882G>A (p.Gly1961Glu)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000775143" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.5882G>A (p.Gly1961Glu)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000775144" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.5882G>A (p.Gly1961Glu)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000775145" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.5882G>A (p.Gly1961Glu)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000775146" "2" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.5882G>A (p.Gly1961Glu)" "" "Unknown" "yes" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000775147" "2" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.5882G>A (p.Gly1961Glu)" "" "Unknown" "yes" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000775148" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.5882G>A (p.Gly1961Glu)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000775149" "2" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.5882G>A (p.Gly1961Glu)" "" "Unknown" "yes" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000775150" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.5882G>A (p.Gly1961Glu)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000775151" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.5882G>A (p.Gly1961Glu)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000775152" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.5882G>A (p.Gly1961Glu)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000775153" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.5882G>A (p.Gly1961Glu)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000775154" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.5882G>A (p.Gly1961Glu)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000775155" "2" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.5882G>A (p.Gly1961Glu)" "" "Unknown" "yes" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000775156" "2" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.5882G>A (p.Gly1961Glu)" "" "Unknown" "yes" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000775157" "2" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.5882G>A (p.Gly1961Glu)" "" "Unknown" "yes" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000775158" "2" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.5882G>A (p.Gly1961Glu)" "" "Unknown" "yes" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000775159" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.5882G>A (p.Gly1961Glu)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000775160" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.5882G>A (p.Gly1961Glu)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000775161" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.5882G>A (p.Gly1961Glu)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000775162" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.5882G>A (p.Gly1961Glu)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000775163" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.5882G>A (p.Gly1961Glu)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000775164" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.5882G>A (p.Gly1961Glu)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000775165" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.5882G>A (p.Gly1961Glu)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000775166" "2" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.5882G>A (p.Gly1961Glu)" "" "Unknown" "yes" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000775167" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.5882G>A (p.Gly1961Glu)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000775168" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.5882G>A (p.Gly1961Glu)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000775169" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.5882G>A (p.Gly1961Glu)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000775170" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.5882G>A (p.Gly1961Glu)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000775171" "2" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.5882G>A (p.Gly1961Glu)" "" "Unknown" "yes" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000775172" "2" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.5882G>A (p.Gly1961Glu)" "" "Unknown" "yes" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000775173" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.5882G>A (p.Gly1961Glu)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000775174" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.5882G>A (p.Gly1961Glu)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000775175" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.5882G>A (p.Gly1961Glu)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000775176" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.[1622T>C;3113C>T] (p.[Leu541Pro;Ala1038Val])" "" "Unknown" "yes" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000775177" "2" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.5882G>A (p.Gly1961Glu)" "" "Unknown" "yes" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000775178" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.[1622T>C;3113C>T] (p.[Leu541Pro;Ala1038Val])" "" "Unknown" "yes" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000775179" "2" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.5882G>A (p.Gly1961Glu)" "" "Unknown" "yes" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000775180" "3" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.5882G>A (p.Gly1961Glu)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000775181" "2" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.5882G>A (p.Gly1961Glu)" "" "Unknown" "yes" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000775182" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.5882G>A (p.Gly1961Glu)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000775183" "1" "70" "1" "94473236" "94473236" "subst" "0" "01695" "ABCA4_001484" "g.94473236C>A" "" "{PMID:Zernant 2017:28446513}" "" "c.[5959G>T;c.5961_5964del] (p.Gly1987*)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94007680C>A" "" "likely pathogenic (recessive)" ""
"0000775184" "1" "90" "1" "94473231" "94473234" "del" "0" "01695" "ABCA4_000387" "g.94473231_94473234del" "" "{PMID:Zernant 2017:28446513}" "" "c.[5959G>T;c.5961_5964del] (p.Gly1987*)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94007675_94007678del" "" "pathogenic (recessive)" ""
"0000775185" "0" "70" "1" "94512496" "94512496" "subst" "0" "01695" "ABCA4_001980" "g.94512496C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.2897G>A (p.Gly966Glu)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94046940C>T" "" "likely pathogenic (recessive)" ""
"0000775186" "0" "70" "1" "94486939" "94486939" "subst" "0" "01695" "ABCA4_001211" "g.94486939A>T" "" "{PMID:Zernant 2017:28446513}" "" "c.4875T>A (p.His1625Gln)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94021383A>T" "" "likely pathogenic (recessive)" ""
"0000775187" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.[1622T>C;3113C>T] (p.[Leu541Pro;Ala1038Val])" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000775188" "0" "70" "1" "94485283" "94485283" "subst" "1.64078E-5" "01695" "ABCA4_001734" "g.94485283A>T" "" "{PMID:Zernant 2017:28446513}" "" "c.5051T>A (p.Ile1684Asn)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94019727A>T" "" "likely pathogenic (recessive)" ""
"0000775189" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.[1622T>C;3113C>T] (p.[Leu541Pro;Ala1038Val])" "" "Unknown" "yes" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000775190" "2" "90" "1" "94505663" "94505663" "del" "0" "01695" "ABCA4_000608" "g.94505663del" "" "{PMID:Zernant 2017:28446513}" "" "c.3543del (p.Lys1182fs)" "" "Unknown" "yes" "" "0" "" "" "g.94040107del" "" "pathogenic (recessive)" ""
"0000775191" "0" "50" "1" "94473263" "94473263" "subst" "0" "01695" "ABCA4_000097" "g.94473263T>C" "" "{PMID:Zernant 2017:28446513}" "" "c.5932A>G (p.Lys1978Glu)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94007707T>C" "" "VUS" ""
"0000775192" "0" "50" "1" "94506910" "94506910" "subst" "4.06098E-6" "01695" "ABCA4_000105" "g.94506910A>G" "" "{PMID:Zernant 2017:28446513}" "" "c.3377T>C (p.Leu1126Pro)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94041354A>G" "" "VUS" ""
"0000775193" "2" "50" "1" "94506874" "94506874" "subst" "0" "01695" "ABCA4_000104" "g.94506874A>G" "" "{PMID:Zernant 2017:28446513}" "" "c.3413T>C (p.Leu1138Pro)" "" "Unknown" "yes" "" "0" "" "" "g.94041318A>G" "" "VUS" ""
"0000775194" "0" "50" "1" "94485148" "94485148" "subst" "4.27562E-6" "01695" "ABCA4_000099" "g.94485148A>G" "" "{PMID:Zernant 2017:28446513}" "" "c.5186T>C (p.Leu1729Pro)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94019592A>G" "" "VUS" ""
"0000775195" "0" "50" "1" "94485148" "94485148" "subst" "4.27562E-6" "01695" "ABCA4_000099" "g.94485148A>G" "" "{PMID:Zernant 2017:28446513}" "" "c.5186T>C (p.Leu1729Pro)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94019592A>G" "" "VUS" ""
"0000775196" "0" "70" "1" "94480208" "94480208" "subst" "8.12275E-6" "01695" "ABCA4_001013" "g.94480208A>C" "" "{PMID:Zernant 2017:28446513}" "" "c.5351T>G (p.Leu1784Arg)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94014652A>C" "" "likely pathogenic (recessive)" ""
"0000775197" "0" "70" "1" "94474323" "94474323" "subst" "0" "01695" "ABCA4_001654" "g.94474323A>T" "" "{PMID:Zernant 2017:28446513}" "" "c.5819T>A (p.Leu1940Gln)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94008767A>T" "" "likely pathogenic (recessive)" ""
"0000775198" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.[71G>A;5882G>A] (p.[Arg24His;Gly1961Glu])" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000775199" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.6079C>T (p.Leu2027Phe)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic (recessive)" ""
"0000775200" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.6079C>T (p.Leu2027Phe)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic (recessive)" ""
"0000775201" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.[1622T>C;3113C>T] (p.[Leu541Pro;Ala1038Val])" "" "Unknown" "yes" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000775202" "2" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.6079C>T (p.Leu2027Phe)" "" "Unknown" "yes" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic (recessive)" ""
"0000775203" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.[1622T>C;3113C>T] (p.[Leu541Pro;Ala1038Val])" "" "Unknown" "yes" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000775204" "2" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.6079C>T (p.Leu2027Phe)" "" "Unknown" "yes" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic (recessive)" ""
"0000775205" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.[1622T>C;3113C>T] (p.[Leu541Pro;Ala1038Val])" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000775206" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.6079C>T (p.Leu2027Phe)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic (recessive)" ""
"0000775207" "2" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.6079C>T (p.Leu2027Phe)" "" "Unknown" "yes" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic (recessive)" ""
"0000775208" "2" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.6079C>T (p.Leu2027Phe)" "" "Unknown" "yes" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic (recessive)" ""
"0000775209" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.6079C>T (p.Leu2027Phe)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic (recessive)" ""
"0000775210" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.6079C>T (p.Leu2027Phe)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic (recessive)" ""
"0000775211" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.6079C>T (p.Leu2027Phe)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic (recessive)" ""
"0000775212" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.6079C>T (p.Leu2027Phe)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic (recessive)" ""
"0000775213" "0" "70" "1" "94471046" "94471046" "subst" "0" "01695" "ABCA4_000869" "g.94471046A>T" "" "{PMID:Zernant 2017:28446513}" "" "c.6098T>A (p.Leu2033His)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94005490A>T" "" "likely pathogenic (recessive)" ""
"0000775214" "0" "70" "1" "94467517" "94467517" "subst" "0" "01695" "ABCA4_000786" "g.94467517A>C" "" "{PMID:Zernant 2017:28446513}" "" "c.6179T>G (p.Leu2060Arg)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94001961A>C" "" "likely pathogenic (recessive)" ""
"0000775215" "2" "90" "1" "94466452" "94466452" "subst" "4.06088E-6" "01695" "ABCA4_000822" "g.94466452A>T" "" "{PMID:Zernant 2017:28446513}" "" "c.6419T>A (p.Leu2140Gln)" "" "Unknown" "yes" "" "0" "" "" "g.94000896A>T" "" "pathogenic (recessive)" ""
"0000775216" "0" "90" "1" "94546248" "94546248" "del" "2.03666E-5" "01695" "ABCA4_000352" "g.94546248del" "" "{PMID:Zernant 2017:28446513}" "" "c.885del (p.Leu296fs)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94080692del" "" "pathogenic (recessive)" ""
"0000775217" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.[1622T>C;3113C>T] (p.[Leu541Pro;Ala1038Val])" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000775218" "0" "90" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Zernant 2017:28446513}" "" "c.2894A>G (p.Asn965Ser)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94046943T>C" "" "pathogenic (recessive)" ""
"0000775219" "0" "90" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Zernant 2017:28446513}" "" "c.2894A>G (p.Asn965Ser)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94046943T>C" "" "pathogenic (recessive)" ""
"0000775220" "0" "70" "1" "94577002" "94577002" "subst" "7.32398E-5" "01695" "ABCA4_000987" "g.94577002G>C" "" "{PMID:Zernant 2017:28446513}" "" "c.294C>G (p.Asn98Lys)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94111446G>C" "" "likely pathogenic (recessive)" ""
"0000775221" "1" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.[3758C>T;5882G>A] (p.[Thr1253Met;Gly1961Glu])" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000775222" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.4139C>T (p.Pro1380Leu)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000775223" "1" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.[3758C>T;5882G>A] (p.[Thr1253Met;Gly1961Glu])" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000775224" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.4139C>T (p.Pro1380Leu)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000775225" "1" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.[3758C>T;5882G>A] (p.[Thr1253Met;Gly1961Glu])" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000775226" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.4139C>T (p.Pro1380Leu)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000775227" "1" "70" "1" "94471055" "94471055" "subst" "0.00035346" "01695" "ABCA4_000029" "g.94471055C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.[1A>G;6089G>A] (p.[?;Arg2030Gln])" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94005499C>T" "" "likely pathogenic (recessive)" ""
"0000775228" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.4139C>T (p.Pro1380Leu)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000775229" "2" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.4139C>T (p.Pro1380Leu)" "" "Unknown" "yes" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000775230" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.4139C>T (p.Pro1380Leu)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000775231" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.4139C>T (p.Pro1380Leu)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000775232" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.4139C>T (p.Pro1380Leu)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000775233" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.4139C>T (p.Pro1380Leu)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000775234" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.4139C>T (p.Pro1380Leu)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000775235" "2" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.4139C>T (p.Pro1380Leu)" "" "Unknown" "yes" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000775236" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.4139C>T (p.Pro1380Leu)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000775237" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.4139C>T (p.Pro1380Leu)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000775238" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.4139C>T (p.Pro1380Leu)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000775239" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.4139C>T (p.Pro1380Leu)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000775240" "2" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.4139C>T (p.Pro1380Leu)" "" "Unknown" "yes" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000775241" "0" "70" "1" "94497586" "94497586" "subst" "2.49047E-5" "01695" "ABCA4_001863" "g.94497586C>G" "" "{PMID:Zernant 2017:28446513}" "" "c.3876G>C (p.Gln1292His)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94032030C>G" "" "likely pathogenic (recessive)" ""
"0000775242" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.[1622T>C;3113C>T] (p.[Leu541Pro;Ala1038Val])" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000775243" "0" "90" "1" "94496571" "94496571" "subst" "4.06174E-6" "01695" "ABCA4_000111" "g.94496571G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.4234C>T (p.Gln1415*)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94031015G>A" "" "pathogenic (recessive)" ""
"0000775244" "2" "90" "1" "94496571" "94496571" "subst" "4.06174E-6" "01695" "ABCA4_000111" "g.94496571G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.4234C>T (p.Gln1415*)" "" "Unknown" "yes" "" "0" "" "" "g.94031015G>A" "" "pathogenic (recessive)" ""
"0000775245" "2" "90" "1" "94463488" "94463488" "subst" "5.2803E-5" "01695" "ABCA4_000802" "g.94463488G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.6658C>T (p.Gln2220*)" "" "Unknown" "yes" "" "0" "" "" "g.93997932G>A" "" "pathogenic (recessive)" ""
"0000775246" "1" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.[2627A>C;3322C>T] (p.[Gln876Pro;Arg1108Cys])" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000775247" "3" "70" "1" "94517215" "94517215" "subst" "0" "01695" "ABCA4_002001" "g.94517215T>G" "" "{PMID:Zernant 2017:28446513}" "" "c.2627A>C (p.Gln876Pro)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94051659T>G" "" "likely pathogenic (recessive)" ""
"0000775248" "0" "90" "1" "94508353" "94508353" "subst" "2.8431E-5" "01695" "ABCA4_000141" "g.94508353G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.3292C>T (p.Arg1098Cys)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94042797G>A" "" "pathogenic (recessive)" ""
"0000775249" "0" "90" "1" "94508353" "94508353" "subst" "2.8431E-5" "01695" "ABCA4_000141" "g.94508353G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.3292C>T (p.Arg1098Cys)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94042797G>A" "" "pathogenic (recessive)" ""
"0000775250" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.3322C>T (p.Arg1108Cys)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000775251" "2" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.3322C>T (p.Arg1108Cys)" "" "Unknown" "yes" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000775252" "2" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.3322C>T (p.Arg1108Cys)" "" "Unknown" "yes" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000775253" "0" "70" "1" "94508322" "94508322" "subst" "0" "01695" "ABCA4_001920" "g.94508322C>A" "" "{PMID:Zernant 2017:28446513}" "" "c.3323G>T (p.Arg1108Leu)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94042766C>A" "" "likely pathogenic (recessive)" ""
"0000775254" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.[1622T>C;3113C>T] (p.[Leu541Pro;Ala1038Val])" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000775255" "0" "70" "1" "94506902" "94506902" "subst" "1.21834E-5" "01695" "ABCA4_000623" "g.94506902G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.3385C>T (p.Arg1129Cys)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94041346G>A" "" "likely pathogenic (recessive)" ""
"0000775256" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Zernant 2017:28446513}" "" "c.3386G>T (p.Arg1129Leu)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000775257" "2" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Zernant 2017:28446513}" "" "c.3386G>T (p.Arg1129Leu)" "" "Unknown" "yes" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000775258" "2" "90" "1" "94497564" "94497564" "subst" "1.64383E-5" "01695" "ABCA4_000091" "g.94497564G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.3898C>T (p.Arg1300*)" "" "Unknown" "yes" "" "0" "" "" "g.94032008G>A" "" "pathogenic (recessive)" ""
"0000775259" "2" "90" "1" "94497564" "94497564" "subst" "1.64383E-5" "01695" "ABCA4_000091" "g.94497564G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.3898C>T (p.Arg1300*)" "" "Unknown" "yes" "" "0" "" "" "g.94032008G>A" "" "pathogenic (recessive)" ""
"0000775260" "0" "70" "1" "94486895" "94486895" "subst" "3.24923E-5" "01695" "ABCA4_000484" "g.94486895C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.4919G>A (p.Arg1640Gln)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94021339C>T" "" "likely pathogenic (recessive)" ""
"0000775261" "2" "70" "1" "94486895" "94486895" "subst" "3.24923E-5" "01695" "ABCA4_000484" "g.94486895C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.4919G>A (p.Arg1640Gln)" "" "Unknown" "yes" "" "0" "" "" "g.94021339C>T" "" "likely pathogenic (recessive)" ""
"0000775262" "0" "70" "1" "94486895" "94486895" "subst" "3.24923E-5" "01695" "ABCA4_000484" "g.94486895C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.4919G>A (p.Arg1640Gln)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94021339C>T" "" "likely pathogenic (recessive)" ""
"0000775263" "0" "70" "1" "94471055" "94471055" "subst" "0.00035346" "01695" "ABCA4_000029" "g.94471055C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.6089G>A (p.Arg2030Gln)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94005499C>T" "" "likely pathogenic (recessive)" ""
"0000775264" "0" "70" "1" "94471055" "94471055" "subst" "0.00035346" "01695" "ABCA4_000029" "g.94471055C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.6089G>A (p.Arg2030Gln)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94005499C>T" "" "likely pathogenic (recessive)" ""
"0000775265" "2" "70" "1" "94471055" "94471055" "subst" "0.00035346" "01695" "ABCA4_000029" "g.94471055C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.6089G>A (p.Arg2030Gln)" "" "Unknown" "yes" "" "0" "" "" "g.94005499C>T" "" "likely pathogenic (recessive)" ""
"0000775266" "0" "70" "1" "94471055" "94471055" "subst" "0.00035346" "01695" "ABCA4_000029" "g.94471055C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.6089G>A (p.Arg2030Gln)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94005499C>T" "" "likely pathogenic (recessive)" ""
"0000775267" "0" "70" "1" "94471055" "94471055" "subst" "0.00035346" "01695" "ABCA4_000029" "g.94471055C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.6089G>A (p.Arg2030Gln)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94005499C>T" "" "likely pathogenic (recessive)" ""
"0000775268" "0" "90" "1" "94471056" "94471056" "subst" "2.84398E-5" "01695" "ABCA4_000050" "g.94471056G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.6088C>T (p.Arg2030*)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94005500G>A" "" "pathogenic (recessive)" ""
"0000775269" "0" "90" "1" "94471056" "94471056" "subst" "2.84398E-5" "01695" "ABCA4_000050" "g.94471056G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.6088C>T (p.Arg2030*)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94005500G>A" "" "pathogenic (recessive)" ""
"0000775270" "2" "50" "1" "94471025" "94471025" "subst" "0.00031698" "01695" "ABCA4_000096" "g.94471025C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.6119G>A (p.Arg2040Gln)" "" "Unknown" "yes" "" "0" "" "" "g.94005469C>T" "" "VUS" ""
"0000775271" "0" "50" "1" "94471025" "94471025" "subst" "0.00031698" "01695" "ABCA4_000096" "g.94471025C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.6119G>A (p.Arg2040Gln)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94005469C>T" "" "VUS" ""
"0000775272" "0" "90" "1" "94471026" "94471026" "subst" "1.21925E-5" "01695" "ABCA4_000791" "g.94471026G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.6118C>T (p.Arg2040*)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94005470G>A" "" "pathogenic (recessive)" ""
"0000775273" "2" "70" "1" "94467467" "94467467" "subst" "4.06164E-6" "01695" "ABCA4_000095" "g.94467467G>C" "" "{PMID:Zernant 2017:28446513}" "" "c.6229C>G (p.Arg2077Gly)" "" "Unknown" "yes" "" "0" "" "" "g.94001911G>C" "" "likely pathogenic (recessive)" ""
"0000775274" "0" "70" "1" "94467467" "94467467" "subst" "4.06164E-6" "01695" "ABCA4_000780" "g.94467467G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.6229C>T (p.Arg2077Trp)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94001911G>A" "" "likely pathogenic (recessive)" ""
"0000775275" "0" "70" "1" "94467467" "94467467" "subst" "4.06164E-6" "01695" "ABCA4_000780" "g.94467467G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.6229C>T (p.Arg2077Trp)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94001911G>A" "" "likely pathogenic (recessive)" ""
"0000775276" "2" "70" "1" "94467467" "94467467" "subst" "4.06164E-6" "01695" "ABCA4_000780" "g.94467467G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.6229C>T (p.Arg2077Trp)" "" "Unknown" "yes" "" "0" "" "" "g.94001911G>A" "" "likely pathogenic (recessive)" ""
"0000775277" "2" "90" "1" "94466628" "94466628" "subst" "0.000109748" "01695" "ABCA4_000094" "g.94466628G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.6316C>T (p.Arg2106Cys)" "" "Unknown" "yes" "" "0" "" "" "g.94001072G>A" "" "pathogenic (recessive)" ""
"0000775278" "0" "90" "1" "94466628" "94466628" "subst" "0.000109748" "01695" "ABCA4_000094" "g.94466628G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.6316C>T (p.Arg2106Cys)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94001072G>A" "" "pathogenic (recessive)" ""
"0000775279" "0" "90" "1" "94466628" "94466628" "subst" "0.000109748" "01695" "ABCA4_000094" "g.94466628G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.6316C>T (p.Arg2106Cys)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94001072G>A" "" "pathogenic (recessive)" ""
"0000775280" "0" "70" "1" "94466627" "94466627" "subst" "4.06408E-6" "01695" "ABCA4_000867" "g.94466627C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.6317G>A (p.Arg2106His)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94001071C>T" "" "likely pathogenic (recessive)" ""
"0000775281" "0" "90" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.6320G>A (p.Arg2107His)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94001068C>T" "" "pathogenic (recessive)" ""
"0000775282" "0" "90" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.6320G>A (p.Arg2107His)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94001068C>T" "" "pathogenic (recessive)" ""
"0000775283" "2" "90" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.6320G>A (p.Arg2107His)" "" "Unknown" "yes" "" "0" "" "" "g.94001068C>T" "" "pathogenic (recessive)" ""
"0000775284" "0" "90" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.6320G>A (p.Arg2107His)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94001068C>T" "" "pathogenic (recessive)" ""
"0000775285" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.[1622T>C;3113C>T] (p.[Leu541Pro;Ala1038Val])" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000775286" "0" "90" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.6320G>A (p.Arg2107His)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94001068C>T" "" "pathogenic (recessive)" ""
"0000775287" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.[1622T>C;3113C>T] (p.[Leu541Pro;Ala1038Val])" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000775288" "0" "90" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.6320G>A (p.Arg2107His)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94001068C>T" "" "pathogenic (recessive)" ""
"0000775289" "0" "90" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.6320G>A (p.Arg2107His)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94001068C>T" "" "pathogenic (recessive)" ""
"0000775290" "2" "90" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.6320G>A (p.Arg2107His)" "" "Unknown" "yes" "" "0" "" "" "g.94001068C>T" "" "pathogenic (recessive)" ""
"0000775291" "0" "90" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.6320G>A (p.Arg2107His)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94001068C>T" "" "pathogenic (recessive)" ""
"0000775292" "0" "90" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.6320G>A (p.Arg2107His)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94001068C>T" "" "pathogenic (recessive)" ""
"0000775293" "0" "90" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.6320G>A (p.Arg2107His)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94001068C>T" "" "pathogenic (recessive)" ""
"0000775294" "0" "90" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.6320G>A (p.Arg2107His)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94001068C>T" "" "pathogenic (recessive)" ""
"0000775295" "0" "90" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.6320G>A (p.Arg2107His)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94001068C>T" "" "pathogenic (recessive)" ""
"0000775296" "2" "90" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.6320G>A (p.Arg2107His)" "" "Unknown" "yes" "" "0" "" "" "g.94001068C>T" "" "pathogenic (recessive)" ""
"0000775297" "0" "90" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.6320G>A (p.Arg2107His)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94001068C>T" "" "pathogenic (recessive)" ""
"0000775298" "0" "90" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.6320G>A (p.Arg2107His)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94001068C>T" "" "pathogenic (recessive)" ""
"0000775299" "0" "90" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.6320G>A (p.Arg2107His)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94001068C>T" "" "pathogenic (recessive)" ""
"0000775300" "0" "90" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.6320G>A (p.Arg2107His)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94001068C>T" "" "pathogenic (recessive)" ""
"0000775301" "0" "90" "1" "94466426" "94466426" "subst" "1.62433E-5" "01695" "ABCA4_000124" "g.94466426G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.6445C>T (p.Arg2149*)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94000870G>A" "" "pathogenic (recessive)" ""
"0000775302" "2" "70" "1" "94528819" "94528819" "subst" "2.03128E-5" "01695" "ABCA4_000078" "g.94528819G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.1609C>T (p.Arg537Cys)" "" "Unknown" "yes" "" "0" "" "" "g.94063263G>A" "" "likely pathogenic (recessive)" ""
"0000775303" "0" "70" "1" "94528819" "94528819" "subst" "2.03128E-5" "01695" "ABCA4_000078" "g.94528819G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.1609C>T (p.Arg537Cys)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94063263G>A" "" "likely pathogenic (recessive)" ""
"0000775304" "0" "70" "1" "94485247" "94485247" "subst" "4.07647E-5" "01695" "ABCA4_000475" "g.94485247C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.5087G>A (p.Ser1696Asn)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94019691C>T" "" "likely pathogenic (recessive)" ""
"0000775305" "2" "50" "1" "94463443" "94463443" "subst" "0" "01695" "ABCA4_000798" "g.94463443A>G" "" "{PMID:Zernant 2017:28446513}" "" "c.6703T>C (p.Ser2235Pro)" "" "Unknown" "yes" "" "0" "" "" "g.93997887A>G" "" "VUS" ""
"0000775306" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.[1622T>C;3113C>T] (p.[Leu541Pro;Ala1038Val])" "" "Unknown" "yes" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000775307" "2" "70" "1" "94520869" "94520869" "subst" "0" "01695" "ABCA4_000729" "g.94520869G>C" "" "{PMID:Zernant 2017:28446513}" "" "c.2385C>G (p.Ser795Arg)" "" "Unknown" "yes" "" "0" "" "" "g.94055313G>C" "" "likely pathogenic (recessive)" ""
"0000775308" "1" "70" "1" "94486896" "94486896" "subst" "3.65562E-5" "01695" "ABCA4_000085" "g.94486896G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.[4222T>C;4918C>T] (p.[Trp1408Arg;Arg1640Trp])" "" "Unknown" "yes" "" "0" "" "" "g.94021340G>A" "" "likely pathogenic (recessive)" ""
"0000775309" "2" "90" "1" "94509026" "94509026" "subst" "4.06497E-5" "01695" "ABCA4_000660" "g.94509026G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.3056C>T (p.Thr1019Met)" "" "Unknown" "yes" "" "0" "" "" "g.94043470G>A" "" "pathogenic (recessive)" ""
"0000775310" "2" "70" "1" "94490567" "94490567" "subst" "5.68528E-5" "01695" "ABCA4_000026" "g.94490567G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.4577C>T (p.Thr1526Met)" "" "Unknown" "yes" "" "0" "" "" "g.94025011G>A" "" "likely pathogenic (recessive)" ""
"0000775311" "2" "90" "1" "94473263" "94473263" "del" "0" "01695" "ABCA4_000388" "g.94473263del" "" "{PMID:Zernant 2017:28446513}" "" "c.5935del (p.Thr1979fs)" "" "Unknown" "yes" "" "0" "" "" "g.94007707del" "" "pathogenic (recessive)" ""
"0000775312" "0" "50" "1" "94485278" "94485278" "subst" "0.000487317" "01695" "ABCA4_000101" "g.94485278C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.5056G>A (p.Val1686Met)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94019722C>T" "" "VUS" ""
"0000775313" "2" "50" "1" "94485278" "94485278" "subst" "0.000487317" "01695" "ABCA4_000101" "g.94485278C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.5056G>A (p.Val1686Met)" "" "Unknown" "yes" "" "0" "" "" "g.94019722C>T" "" "VUS" ""
"0000775314" "0" "90" "1" "94481319" "94481319" "del" "0" "01695" "ABCA4_000098" "g.94481319del" "" "{PMID:Zernant 2017:28446513}" "" "c.5289delT (p.Val1764fs)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94015763del" "" "pathogenic (recessive)" ""
"0000775315" "0" "90" "1" "94481319" "94481319" "del" "0" "01695" "ABCA4_000098" "g.94481319del" "" "{PMID:Zernant 2017:28446513}" "" "c.5289delT (p.Val1764fs)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94015763del" "" "pathogenic (recessive)" ""
"0000775316" "0" "90" "1" "94473278" "94473278" "del" "3.25908E-5" "01695" "ABCA4_000392" "g.94473278del" "" "{PMID:Zernant 2017:28446513}" "" "c.5917del (p.Val1973*)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94007722del" "" "pathogenic (recessive)" ""
"0000775317" "2" "90" "1" "94473278" "94473278" "del" "3.25908E-5" "01695" "ABCA4_000392" "g.94473278del" "" "{PMID:Zernant 2017:28446513}" "" "c.5917del (p.Val1973*)" "" "Unknown" "yes" "" "0" "" "" "g.94007722del" "" "pathogenic (recessive)" ""
"0000775318" "0" "90" "1" "94473278" "94473278" "del" "3.25908E-5" "01695" "ABCA4_000392" "g.94473278del" "" "{PMID:Zernant 2017:28446513}" "" "c.5917del (p.Val1973*)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94007722del" "" "pathogenic (recessive)" ""
"0000775319" "2" "90" "1" "94473278" "94473278" "del" "3.25908E-5" "01695" "ABCA4_000392" "g.94473278del" "" "{PMID:Zernant 2017:28446513}" "" "c.5917del (p.Val1973*)" "" "Unknown" "yes" "" "0" "" "" "g.94007722del" "" "pathogenic (recessive)" ""
"0000775320" "0" "90" "1" "94473278" "94473278" "del" "3.25908E-5" "01695" "ABCA4_000392" "g.94473278del" "" "{PMID:Zernant 2017:28446513}" "" "c.5917del (p.Val1973*)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94007722del" "" "pathogenic (recessive)" ""
"0000775321" "2" "90" "1" "94473278" "94473278" "del" "3.25908E-5" "01695" "ABCA4_000392" "g.94473278del" "" "{PMID:Zernant 2017:28446513}" "" "c.5917del (p.Val1973*)" "" "Unknown" "yes" "" "0" "" "" "g.94007722del" "" "pathogenic (recessive)" ""
"0000775322" "2" "90" "1" "94473278" "94473278" "del" "3.25908E-5" "01695" "ABCA4_000392" "g.94473278del" "" "{PMID:Zernant 2017:28446513}" "" "c.5917del (p.Val1973*)" "" "Unknown" "yes" "" "0" "" "" "g.94007722del" "" "pathogenic (recessive)" ""
"0000775323" "0" "90" "1" "94528868" "94528868" "del" "0" "01695" "ABCA4_000304" "g.94528868del" "" "{PMID:Zernant 2017:28446513}" "" "c.1561del (p.Val521Serfs)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94063312del" "" "pathogenic (recessive)" ""
"0000775324" "0" "90" "1" "94510253" "94510253" "subst" "0.000247694" "01695" "ABCA4_000108" "g.94510253A>G" "" "{PMID:Zernant 2017:28446513}" "" "c.2966T>C (p.Val989Ala)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94044697A>G" "" "pathogenic (recessive)" ""
"0000775325" "2" "90" "1" "94510253" "94510253" "subst" "0.000247694" "01695" "ABCA4_000108" "g.94510253A>G" "" "{PMID:Zernant 2017:28446513}" "" "c.2966T>C (p.Val989Ala)" "" "Unknown" "yes" "" "0" "" "" "g.94044697A>G" "" "pathogenic (recessive)" ""
"0000775326" "0" "90" "1" "94510253" "94510253" "subst" "0.000247694" "01695" "ABCA4_000108" "g.94510253A>G" "" "{PMID:Zernant 2017:28446513}" "" "c.2966T>C (p.Val989Ala)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94044697A>G" "" "pathogenic (recessive)" ""
"0000775327" "0" "70" "1" "94495989" "94495989" "subst" "8.12229E-6" "01695" "ABCA4_001090" "g.94495989C>A" "" "{PMID:Zernant 2017:28446513}" "" "c.4347G>T (p.Trp1449Cys)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94030433C>A" "" "likely pathogenic (recessive)" ""
"0000775328" "0" "90" "1" "94495103" "94495103" "subst" "0" "01695" "ABCA4_001813" "g.94495103C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.4437G>A (p.Trp1479*)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94029547C>T" "" "pathogenic (recessive)" ""
"0000775329" "2" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Zernant 2017:28446513}" "" "+/-" "" "Unknown" "yes" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000775330" "2" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Zernant 2017:28446513}" "" "+/-" "" "Unknown" "yes" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000775331" "2" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Zernant 2017:28446513}" "" "+/-" "" "Unknown" "yes" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000775332" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Zernant 2017:28446513}" "" "+/-" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000775333" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Zernant 2017:28446513}" "" "+/-" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000775334" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Zernant 2017:28446513}" "" "+/-" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000775335" "1" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.[3481C>A;5714+5G>A] (p.[Arg1161Ser;?])" "" "Unknown" "yes" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000775336" "2" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Zernant 2017:28446513}" "" "+/-" "" "Unknown" "yes" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000775337" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.[1622T>C;3113C>T] (p.[Leu541Pro;Ala1038Val])" "" "Unknown" "yes" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000775338" "2" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Zernant 2017:28446513}" "" "+/-" "" "Unknown" "yes" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000775339" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Zernant 2017:28446513}" "" "+/-" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000775340" "2" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Zernant 2017:28446513}" "" "+/-" "" "Unknown" "yes" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000775341" "2" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Zernant 2017:28446513}" "" "+/-" "" "Unknown" "yes" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000775342" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.[1622T>C;3113C>T] (p.[Leu541Pro;Ala1038Val])" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000775343" "0" "90" "1" "94480243" "94480243" "subst" "4.06124E-6" "01695" "ABCA4_000448" "g.94480243C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.5316G>A (p.Trp1772*)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94014687C>T" "" "pathogenic (recessive)" ""
"0000775344" "0" "70" "1" "94471037" "94471037" "subst" "0" "01695" "ABCA4_001062" "g.94471037T>C" "" "{PMID:Zernant 2017:28446513}" "" "c.6107A>G (p.Tyr2036Cys)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94005481T>C" "" "likely pathogenic (recessive)" ""
"0000775345" "3" "70" "1" "94502328" "94502328" "subst" "0.000255854" "01695" "ABCA4_001035" "g.94502328G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.[179C>T;3830C>T] (p.[Ala60Val;Thr1277Met])" "" "Unknown" "yes" "" "0" "" "" "g.94036772G>A" "" "likely pathogenic (recessive)" ""
"0000775346" "3" "70" "1" "94577117" "94577117" "subst" "1.62472E-5" "01695" "ABCA4_000237" "g.94577117G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.[179C>T;3830C>T] (p.[Ala60Val;Thr1277Met])" "" "Unknown" "yes" "" "0" "" "" "g.94111561G>A" "" "likely pathogenic (recessive)" ""
"0000775347" "3" "70" "1" "94502328" "94502328" "subst" "0.000255854" "01695" "ABCA4_001035" "g.94502328G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.[179C>T;3830C>T] (p.[Ala60Val;Thr1277Met])" "" "Unknown" "yes" "" "0" "" "" "g.94036772G>A" "" "likely pathogenic (recessive)" ""
"0000775348" "3" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.[2549A>G;5882G>A] (p.[Tyr850Cys;Gly1961Glu])" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000775349" "3" "70" "1" "94520705" "94520705" "subst" "0" "01695" "ABCA4_000714" "g.94520705T>C" "" "{PMID:Zernant 2017:28446513}" "" "c.[2549A>G;5882G>A] (p.[Tyr850Cys;Gly1961Glu])" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94055149T>C" "" "likely pathogenic (recessive)" ""
"0000775350" "3" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.[2549A>G;5882G>A] (p.[Tyr850Cys;Gly1961Glu])" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000775351" "3" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.[1622T>C;3113C>T] (p.[Leu541Pro;Ala1038Val])" "" "Unknown" "yes" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000775352" "3" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Zernant 2017:28446513}" "" "c.[1622T>C;3113C>T] (p.[Leu541Pro;Ala1038Val])" "" "Unknown" "yes" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000775353" "3" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.[1622T>C;3113C>T] (p.[Leu541Pro;Ala1038Val])" "" "Unknown" "yes" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000775354" "3" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.[1622T>C;3113C>T] (p.[Leu541Pro;Ala1038Val])" "" "Unknown" "yes" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000775355" "3" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Zernant 2017:28446513}" "" "c.[1622T>C;3113C>T] (p.[Leu541Pro;Ala1038Val])" "" "Unknown" "yes" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000775356" "3" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.[1622T>C;3113C>T] (p.[Leu541Pro;Ala1038Val])" "" "Unknown" "yes" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000775357" "3" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.[1622T>C;3113C>T] (p.[Leu541Pro;Ala1038Val])" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000775358" "3" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Zernant 2017:28446513}" "" "c.[1622T>C;3113C>T] (p.[Leu541Pro;Ala1038Val])" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000775359" "3" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.[1622T>C;3113C>T] (p.[Leu541Pro;Ala1038Val])" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000775360" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Zernant 2017:28446513}" "" "c.[1622T>C;3113C>T] (p.[Leu541Pro;Ala1038Val])" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000775361" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.[1622T>C;3113C>T] (p.[Leu541Pro;Ala1038Val])" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000775362" "2" "70" "1" "94496583" "94496583" "subst" "2.03092E-5" "01695" "ABCA4_000190" "g.94496583A>G" "" "{PMID:Zernant 2017:28446513}" "" "c.[4222T>C;4918C>T] (p.[Trp1408Arg;Arg1640Trp])" "" "Unknown" "yes" "" "0" "" "" "g.94031027A>G" "" "likely pathogenic (recessive)" ""
"0000775363" "2" "70" "1" "94486896" "94486896" "subst" "3.65562E-5" "01695" "ABCA4_000085" "g.94486896G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.[4222T>C;4918C>T] (p.[Trp1408Arg;Arg1640Trp])" "" "Unknown" "yes" "" "0" "" "" "g.94021340G>A" "" "likely pathogenic (recessive)" ""
"0000775364" "1" "70" "1" "94496583" "94496583" "subst" "2.03092E-5" "01695" "ABCA4_000190" "g.94496583A>G" "" "{PMID:Zernant 2017:28446513}" "" "c.[4222T>C;4918C>T] (p.[Trp1408Arg;Arg1640Trp])" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94031027A>G" "" "likely pathogenic (recessive)" ""
"0000775365" "1" "70" "1" "94486896" "94486896" "subst" "3.65562E-5" "01695" "ABCA4_000085" "g.94486896G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.[4222T>C;4918C>T] (p.[Trp1408Arg;Arg1640Trp])" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94021340G>A" "" "likely pathogenic (recessive)" ""
"0000775366" "2" "70" "1" "94496583" "94496583" "subst" "2.03092E-5" "01695" "ABCA4_000190" "g.94496583A>G" "" "{PMID:Zernant 2017:28446513}" "" "c.[4222T>C;4918C>T] (p.[Trp1408Arg;Arg1640Trp])" "" "Unknown" "yes" "" "0" "" "" "g.94031027A>G" "" "likely pathogenic (recessive)" ""
"0000775367" "2" "70" "1" "94486896" "94486896" "subst" "3.65562E-5" "01695" "ABCA4_000085" "g.94486896G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.[4222T>C;4918C>T] (p.[Trp1408Arg;Arg1640Trp])" "" "Unknown" "yes" "" "0" "" "" "g.94021340G>A" "" "likely pathogenic (recessive)" ""
"0000775368" "3" "70" "1" "94543269" "94543269" "subst" "0.000179087" "01695" "ABCA4_000307" "g.94543269G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.[872C>T;1531C>T] (p.[Pro291Leu;Arg511Cys])" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94077713G>A" "" "likely pathogenic (recessive)" ""
"0000775369" "3" "70" "1" "94546261" "94546261" "subst" "0.000648567" "01695" "ABCA4_000353" "g.94546261G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.[872C>T;1531C>T] (p.[Pro291Leu;Arg511Cys])" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94080705G>A" "" "likely pathogenic (recessive)" ""
"0000775370" "3" "70" "1" "94543269" "94543269" "subst" "0.000179087" "01695" "ABCA4_000307" "g.94543269G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.[872C>T;1531C>T] (p.[Pro291Leu;Arg511Cys])" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94077713G>A" "" "likely pathogenic (recessive)" ""
"0000775371" "3" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Zernant 2017:28446513}" "" "++" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000775372" "3" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Zernant 2017:28446513}" "" "++" "" "Unknown" "yes" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000775373" "3" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Zernant 2017:28446513}" "" "++" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000775374" "3" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Zernant 2017:28446513}" "" "++" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000775375" "3" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Zernant 2017:28446513}" "" "++" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000775376" "3" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Zernant 2017:28446513}" "" "++" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000775377" "3" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Zernant 2017:28446513}" "" "++" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000775378" "3" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Zernant 2017:28446513}" "" "++" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000775379" "3" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Zernant 2017:28446513}" "" "++" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000775380" "2" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Zernant 2017:28446513}" "" "+/-" "" "Unknown" "yes" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000775381" "3" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.[1622T>C;3113C>T] (p.[Leu541Pro;Ala1038Val])" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000775382" "3" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Zernant 2017:28446513}" "" "c.[1622T>C;3113C>T] (p.[Leu541Pro;Ala1038Val])" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000775383" "3" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.[1622T>C;3113C>T] (p.[Leu541Pro;Ala1038Val])" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000775384" "2" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Zernant 2017:28446513}" "" "+/-" "" "Unknown" "yes" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000775385" "2" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Zernant 2017:28446513}" "" "+/-" "" "Unknown" "yes" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000775386" "2" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Zernant 2017:28446513}" "" "+/-" "" "Unknown" "yes" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000775387" "2" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Zernant 2017:28446513}" "" "+/-" "" "Unknown" "yes" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000775388" "2" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Zernant 2017:28446513}" "" "+/-" "" "Unknown" "yes" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000775389" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.[1622T>C;3113C>T] (p.[Leu541Pro;Ala1038Val])" "" "Unknown" "yes" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000775390" "2" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Zernant 2017:28446513}" "" "+/-" "" "Unknown" "yes" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000775391" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Zernant 2017:28446513}" "" "+/-" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000775392" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Zernant 2017:28446513}" "" "+/-" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000775393" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Zernant 2017:28446513}" "" "+/-" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000775394" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Zernant 2017:28446513}" "" "+/-" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000775395" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Zernant 2017:28446513}" "" "+/-" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000775396" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Zernant 2017:28446513}" "" "+/-" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000775397" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Zernant 2017:28446513}" "" "+/-" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000775398" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Zernant 2017:28446513}" "" "+/-" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000775399" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Zernant 2017:28446513}" "" "+/-" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000775400" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.[1622T>C;3113C>T] (p.[Leu541Pro;Ala1038Val])" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000775401" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Zernant 2017:28446513}" "" "+/-" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000775402" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.[1622T>C;3113C>T] (p.[Leu541Pro;Ala1038Val])" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000775403" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Zernant 2017:28446513}" "" "+/-" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000775404" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Zernant 2017:28446513}" "" "+/-" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000775405" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Zernant 2017:28446513}" "" "+/-" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000775406" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Zernant 2017:28446513}" "" "+/-" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000775407" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Zernant 2017:28446513}" "" "+/-" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000775408" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Zernant 2017:28446513}" "" "+/-" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000775409" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Zernant 2017:28446513}{PMID:Collison 2019:30204727}" "" "+/-" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000775410" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Zernant 2017:28446513}" "" "+/-" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000775411" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Zernant 2017:28446513}" "" "+/-" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000775412" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Zernant 2017:28446513}" "" "+/-" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000775413" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Zernant 2017:28446513}" "" "+/-" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000775414" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Zernant 2017:28446513}" "" "+/-" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000775415" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Zernant 2017:28446513}" "" "+/-" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000775416" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.[1622T>C;3113C>T] (p.[Leu541Pro;Ala1038Val])" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000775417" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Zernant 2017:28446513}" "" "+/-" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000775418" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Zernant 2017:28446513}{PMID:Collison 2019:30204727}" "" "+/-" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000775419" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Zernant 2017:28446513}" "" "+/-" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000775420" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Zernant 2017:28446513}" "" "+/-" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000775421" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Zernant 2017:28446513}" "" "+/-" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000775422" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Zernant 2017:28446513}" "" "+/-" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000775423" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.[1622T>C;3113C>T] (p.[Leu541Pro;Ala1038Val])" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000775424" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Zernant 2017:28446513}" "" "+/-" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000775425" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Zernant 2017:28446513}{PMID:Collison 2019:30204727}" "" "+/-" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000775426" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Zernant 2017:28446513}" "" "+/-" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000775427" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Zernant 2017:28446513}" "" "+/-" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000775428" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Zernant 2017:28446513}" "" "+/-" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000775429" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Zernant 2017:28446513}" "" "+/-" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000775430" "1" "70" "1" "94486896" "94486896" "subst" "3.65562E-5" "01695" "ABCA4_000085" "g.94486896G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.[4222T>C;4918C>T] (p.[Trp1408Arg;Arg1640Trp])" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94021340G>A" "" "likely pathogenic (recessive)" ""
"0000775431" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Zernant 2017:28446513}" "" "+/-" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000775432" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Zernant 2017:28446513}" "" "+/-" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000775433" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.[1622T>C;3113C>T] (p.[Leu541Pro;Ala1038Val])" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000775434" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Zernant 2017:28446513}" "" "+/-" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000775435" "1" "70" "1" "94522239" "94522239" "subst" "2.03305E-5" "01695" "ABCA4_000736" "g.94522239A>T" "" "{PMID:Zernant 2017:28446513}" "" "c.[735T>G;2300T>A] (p.[Tyr245*;Val767Asp])" "no variant 2nd chromosome" "Unknown" "yes" "" "0" "" "" "g.94056683A>T" "" "likely pathogenic (recessive)" ""
"0000775436" "1" "90" "1" "94466426" "94466426" "subst" "1.62433E-5" "01695" "ABCA4_000124" "g.94466426G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.[5882G>A;6445C>T] (p.[Gly1961Glu;Arg2149*])" "no variant 2nd chromosome" "Unknown" "yes" "" "0" "" "" "g.94000870G>A" "" "pathogenic (recessive)" ""
"0000775437" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Zernant 2017:28446513}" "" "c.[1622T>C;3113C>T] (p.[Leu541Pro;Ala1038Val])" "no variant 2nd chromosome; no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000775438" "1" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Zernant 2017:28446513}" "" "c.[3758C>T;5882G>A] (p.[Thr1253Met;Gly1961Glu])" "no variant 2nd chromosome; no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000775439" "0" "70" "1" "94528248" "94528248" "subst" "1.22148E-5" "01695" "ABCA4_000279" "g.94528248A>T" "" "{PMID:Stone 2017:28559085}" "" "c.1822T>A Phe608Ile TTT>ATT" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94062692A>T" "" "likely pathogenic (recessive)" ""
"0000775440" "2" "70" "1" "94528248" "94528248" "subst" "1.22148E-5" "01695" "ABCA4_000279" "g.94528248A>T" "" "{PMID:Stone 2017:28559085}" "" "c.1822T>A Phe608Ile TTT>ATT" "" "Unknown" "yes" "" "0" "" "" "g.94062692A>T" "" "likely pathogenic (recessive)" ""
"0000775441" "0" "90" "1" "94526212" "94526212" "subst" "1.22012E-5" "01695" "ABCA4_000075" "g.94526212G>A" "" "{PMID:Stone 2017:28559085}" "" "c.2041C>T Arg681Stop CGA>TGA" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94060656G>A" "" "pathogenic (recessive)" ""
"0000775442" "2" "90" "1" "94476848" "94476848" "subst" "0" "01695" "ABCA4_001451" "g.94476848G>A" "" "{PMID:Stone 2017:28559085}" "" "c.5554C>T Gln1852Stop CAG>TAG" "" "Unknown" "yes" "" "0" "" "" "g.94011292G>A" "" "pathogenic (recessive)" ""
"0000775443" "2" "70" "1" "94577102" "94577102" "subst" "4.06161E-6" "01695" "ABCA4_000033" "g.94577102C>T" "" "{PMID:Stone 2017:28559085}" "" "c.194G>A Gly65Glu GGA>GAA" "" "Unknown" "yes" "" "0" "" "" "g.94111546C>T" "" "likely pathogenic (recessive)" ""
"0000775444" "2" "90" "1" "94484082" "94484082" "subst" "0" "01695" "ABCA4_000028" "g.94484082T>C" "" "{PMID:Stone 2017:28559085}" "" "c.5196+1056A>G IVS36+1056 A>G" "" "Unknown" "yes" "" "0" "" "" "g.94018526T>C" "" "pathogenic (recessive)" ""
"0000775445" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Stone 2017:28559085}" "" "c.5714+5G>A IVS40+5 G>A" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000775446" "0" "70" "1" "94546261" "94546261" "subst" "0.000648567" "01695" "ABCA4_000353" "g.94546261G>A" "" "{PMID:Stone 2017:28559085}" "" "c.872C>T Pro291Leu CCG>CTG" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94080705G>A" "" "likely pathogenic (recessive)" ""
"0000775447" "0" "90" "1" "94528164" "94528164" "subst" "2.03336E-5" "01695" "ABCA4_000267" "g.94528164G>A" "" "{PMID:Stone 2017:28559085}" "" "c.1906C>T" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94062608G>A" "" "pathogenic (recessive)" ""
"0000775448" "0" "70" "1" "94546118" "94546118" "subst" "8.13326E-6" "01695" "ABCA4_000082" "g.94546118A>C" "" "{PMID:Stone 2017:28559085}" "" "c.1015T>G Trp339Gly TGG>GGG" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94080562A>C" "" "likely pathogenic (recessive)" ""
"0000775449" "2" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Stone 2017:28559085}" "" "c.3322C>T Arg1108Cys CGC>TGC" "" "Unknown" "yes" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000775450" "2" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Stone 2017:28559085}" "" "c.2588G>C / c.1715G>A Gly863Ala (G)GA>(G)CA / Arg572Gln CGA>CAA" "" "Unknown" "yes" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000775451" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Stone 2017:28559085}" "" "c.1622T>C Ala1038Val GCC>GTC / Leu541Pro CTA>CCA" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000775452" "2" "90" "1" "94466426" "94466426" "subst" "1.62433E-5" "01695" "ABCA4_000124" "g.94466426G>A" "" "{PMID:Stone 2017:28559085}" "" "c.6445C>T Arg2149Stop CGA>TGA" "" "Unknown" "yes" "" "0" "" "" "g.94000870G>A" "" "pathogenic (recessive)" ""
"0000775453" "2" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Stone 2017:28559085}" "" "c.5882G>A Gly1961Glu GGA>GAA" "" "Unknown" "yes" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000775454" "2" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Stone 2017:28559085}" "" "c.2588G>C Gly863Ala (G)GA>(G)CA" "" "Unknown" "yes" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000775455" "2" "50" "1" "94496580" "94496580" "subst" "0" "01695" "ABCA4_000564" "g.94496580T>C" "" "{PMID:Stone 2017:28559085}" "" "c.4225A>G Ile1409Val ATA>GTA" "" "Unknown" "yes" "" "0" "" "" "g.94031024T>C" "" "VUS" ""
"0000775456" "2" "90" "1" "94578623" "94578623" "subst" "0" "01695" "ABCA4_001481" "g.94578623C>G" "" "{PMID:Stone 2017:28559085}" "" "c.67-1G>C IVS1-1 G>C" "" "Unknown" "yes" "" "0" "" "" "g.94113067C>G" "" "pathogenic (recessive)" ""
"0000775457" "2" "50" "1" "94493680" "94493680" "subst" "0" "01695" "ABCA4_001459" "g.94493680T>C" "" "{PMID:Stone 2017:28559085}" "" "c.4539+1321A>G IVS30+1321 A>G" "" "Unknown" "yes" "" "0" "" "" "g.94028124T>C" "" "VUS" ""
"0000775458" "2" "70" "1" "94487399" "94487399" "subst" "7.30959E-5" "01695" "ABCA4_000038" "g.94487399T>C" "" "{PMID:Stone 2017:28559085}" "" "c.4773+3A>G IVS33+3 A>G" "" "Unknown" "yes" "" "0" "" "" "g.94021843T>C" "" "likely pathogenic (recessive)" ""
"0000775459" "2" "90" "1" "94483922" "94483922" "subst" "0" "01695" "ABCA4_000027" "g.94483922G>T" "" "{PMID:Stone 2017:28559085}" "" "c.5196+1216C>A IVS36+1216 C>A" "" "Unknown" "yes" "" "0" "" "" "g.94018366G>T" "" "pathogenic (recessive)" ""
"0000775460" "2" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Stone 2017:28559085}" "" "c.5714+5G>A IVS40+5 G>A" "" "Unknown" "yes" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000775461" "0" "50" "1" "94485269" "94485269" "subst" "0" "01695" "ABCA4_000146" "g.94485269A>G" "" "{PMID:Stone 2017:28559085}" "" "c.5065T>C Ser1689Pro TCC>CCC" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94019713A>G" "" "VUS" ""
"0000775462" "2" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Stone 2017:28559085}" "" "c.5882G>A Gly1961Glu GGA>GAA" "" "Unknown" "yes" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000775463" "2" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Stone 2017:28559085}" "" "c.5882G>A Gly1961Glu GGA>GAA" "" "Unknown" "yes" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000775464" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Stone 2017:28559085}" "" "c.2588G>C Gly863Ala (G)GA>(G)CA" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000775465" "2" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Stone 2017:28559085}" "" "c.2588G>C Gly863Ala (G)GA>(G)CA" "" "Unknown" "yes" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000775466" "2" "50" "1" "94493680" "94493680" "subst" "0" "01695" "ABCA4_001459" "g.94493680T>C" "" "{PMID:Stone 2017:28559085}" "" "c.4539+1321A>G IVS30+1321 A>G" "" "Unknown" "yes" "" "0" "" "" "g.94028124T>C" "" "VUS" ""
"0000775467" "2" "50" "1" "94493680" "94493680" "subst" "0" "01695" "ABCA4_001459" "g.94493680T>C" "" "{PMID:Stone 2017:28559085}" "" "c.4539+1321A>G IVS30+1321 A>G" "" "Unknown" "yes" "" "0" "" "" "g.94028124T>C" "" "VUS" ""
"0000775468" "2" "50" "1" "94492973" "94492973" "subst" "0" "01695" "ABCA4_000030" "g.94492973G>A" "" "{PMID:Stone 2017:28559085}" "" "c.4539+2028C>T IVS30+2028 C>T" "" "Unknown" "yes" "" "0" "" "" "g.94027417G>A" "" "VUS" ""
"0000775469" "2" "50" "1" "94492973" "94492973" "subst" "0" "01695" "ABCA4_000030" "g.94492973G>A" "" "{PMID:Stone 2017:28559085}" "" "c.4539+2028C>T IVS30+2028 C>T" "" "Unknown" "yes" "" "0" "" "" "g.94027417G>A" "" "VUS" ""
"0000775470" "2" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Stone 2017:28559085}" "" "c.4139C>T Pro1380Leu CCG>CTG" "" "Unknown" "yes" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000775471" "2" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Stone 2017:28559085}" "" "c.4139C>T Pro1380Leu CCG>CTG" "" "Unknown" "yes" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000775472" "0" "50" "1" "94577105" "94577105" "subst" "0" "01695" "ABCA4_000235" "g.94577105G>A" "" "{PMID:Stone 2017:28559085}" "" "c.191C>T Ala64Val GCG>GTG" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94111549G>A" "" "VUS" ""
"0000775473" "0" "90" "1" "94508356" "94508356" "subst" "0" "01695" "ABCA4_000635" "g.94508356T>A" "" "{PMID:Stone 2017:28559085}" "" "c.3289A>T Arg1097Stop AGA>TGA" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94042800T>A" "" "pathogenic (recessive)" ""
"0000775474" "2" "70" "1" "94508322" "94508322" "subst" "1.62513E-5" "01695" "ABCA4_000128" "g.94508322C>T" "" "{PMID:Stone 2017:28559085}" "" "c.3323G>A Arg1108His CGC>CAC" "" "Unknown" "yes" "" "0" "" "" "g.94042766C>T" "" "likely pathogenic (recessive)" ""
"0000775475" "2" "70" "1" "94467467" "94467467" "subst" "4.06164E-6" "01695" "ABCA4_000780" "g.94467467G>A" "" "{PMID:Stone 2017:28559085}" "" "c.6229C>T Arg2077Trp CGG>TGG" "" "Unknown" "yes" "" "0" "" "" "g.94001911G>A" "" "likely pathogenic (recessive)" ""
"0000775476" "2" "90" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Stone 2017:28559085}" "" "c.6320G>A Arg2107His CGC>CAC" "" "Unknown" "yes" "" "0" "" "" "g.94001068C>T" "" "pathogenic (recessive)" ""
"0000775477" "2" "50" "1" "94543278" "94543278" "subst" "0.000178952" "01695" "ABCA4_000004" "g.94543278G>A" "" "{PMID:Stone 2017:28559085}" "" "c.1522C>T Arg508Cys CGC>TGC" "" "Unknown" "yes" "" "0" "" "" "g.94077722G>A" "" "VUS" ""
"0000775478" "2" "70" "1" "94495078" "94495078" "subst" "8.37044E-6" "01695" "ABCA4_000042" "g.94495078A>G" "" "{PMID:Stone 2017:28559085}" "" "c.4462T>C Cys1488Arg TGC>CGC" "" "Unknown" "yes" "" "0" "" "" "g.94029522A>G" "" "likely pathogenic (recessive)" ""
"0000775479" "2" "90" "1" "94508386" "94508386" "subst" "1.62443E-5" "01695" "ABCA4_000642" "g.94508386C>T" "" "{PMID:Stone 2017:28559085}" "" "c.3259G>A Glu1087Lys GAA>AAA" "" "Unknown" "yes" "" "0" "" "" "g.94042830C>T" "" "pathogenic (recessive)" ""
"0000775480" "2" "70" "1" "94510287" "94510287" "subst" "0" "01695" "ABCA4_001467" "g.94510287C>T" "" "{PMID:Stone 2017:28559085}" "" "c.2932G>A Gly978Ser GGT>AGT" "" "Unknown" "yes" "" "0" "" "" "g.94044731C>T" "" "likely pathogenic (recessive)" ""
"0000775481" "2" "70" "1" "94493000" "94493000" "subst" "0" "01695" "ABCA4_000015" "g.94493000C>T" "" "{PMID:Stone 2017:28559085}" "" "c.4539+2001G>A IVS30+2001 G>A" "" "Unknown" "yes" "" "0" "" "" "g.94027444C>T" "" "likely pathogenic (recessive)" ""
"0000775482" "2" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Stone 2017:28559085}" "" "c.6079C>T Leu2027Phe CTC>TTC" "" "Unknown" "yes" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic (recessive)" ""
"0000775483" "2" "70" "1" "94512478" "94512478" "subst" "3.65871E-5" "01695" "ABCA4_000678" "g.94512478G>T" "" "{PMID:Stone 2017:28559085}" "" "c.2915C>A Thr972Asn ACC>AAC" "" "Unknown" "yes" "" "0" "" "" "g.94046922G>T" "" "likely pathogenic (recessive)" ""
"0000775484" "0" "90" "1" "94473278" "94473278" "del" "3.25908E-5" "01695" "ABCA4_000392" "g.94473278del" "" "{PMID:Stone 2017:28559085}" "" "c.5917delG Val1973 del1ggaG" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94007722del" "" "pathogenic (recessive)" ""
"0000775485" "0" "90" "1" "94473278" "94473278" "del" "3.25908E-5" "01695" "ABCA4_000392" "g.94473278del" "" "{PMID:Stone 2017:28559085}" "" "c.5917delG Val1973 del1ggaG" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94007722del" "" "pathogenic (recessive)" ""
"0000775486" "0" "90" "1" "94473278" "94473278" "del" "3.25908E-5" "01695" "ABCA4_000392" "g.94473278del" "" "{PMID:Stone 2017:28559085}" "" "c.5917delG Val1973 del1ggaG" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94007722del" "" "pathogenic (recessive)" ""
"0000775487" "0" "70" "1" "94506923" "94506923" "subst" "2.43657E-5" "01695" "ABCA4_000012" "g.94506923C>T" "" "{PMID:Stone 2017:28559085}" "" "c.3364G>A Glu1122Lys GAG>AAG" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94041367C>T" "" "likely pathogenic (recessive)" ""
"0000775488" "2" "70" "1" "94506923" "94506923" "subst" "2.43657E-5" "01695" "ABCA4_000012" "g.94506923C>T" "" "{PMID:Stone 2017:28559085}" "" "c.3364G>A Glu1122Lys GAG>AAG" "" "Unknown" "yes" "" "0" "" "" "g.94041367C>T" "" "likely pathogenic (recessive)" ""
"0000775489" "2" "50" "1" "94496010" "94496010" "subst" "1.62434E-5" "01695" "ABCA4_000549" "g.94496010G>T" "" "{PMID:Stone 2017:28559085}" "" "c.4326C>A Asn1442Lys AAC>AAA" "" "Unknown" "yes" "" "0" "" "" "g.94030454G>T" "" "VUS" ""
"0000775490" "2" "90" "1" "94487206" "94487206" "del" "0" "01695" "ABCA4_001455" "g.94487206del" "" "{PMID:Stone 2017:28559085}" "" "c.4838delA Asp1613 del1gA" "" "Unknown" "yes" "" "0" "" "" "g.94021650del" "" "pathogenic (recessive)" ""
"0000775491" "0" "70" "1" "94495177" "94495177" "subst" "1.22342E-5" "01695" "ABCA4_000023" "g.94495177A>G" "" "{PMID:Stone 2017:28559085}" "" "c.4363T>C Cys1455Arg TGT>CGT" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94029621A>G" "" "likely pathogenic (recessive)" ""
"0000775492" "2" "70" "1" "94466422" "94466422" "subst" "2.43651E-5" "01695" "ABCA4_000817" "g.94466422C>T" "" "{PMID:Stone 2017:28559085}" "" "c.6449G>A Cys2150Tyr TGT>TAT" "" "Unknown" "yes" "" "0" "" "" "g.94000866C>T" "" "likely pathogenic (recessive)" ""
"0000775493" "2" "90" "1" "94507707" "94510220" "del" "0" "01695" "ABCA4_001445" "g.94507707_94510220del" "" "{PMID:Stone 2017:28559085}" "" "Chr1:94507707-94510220 del Deletion Codon 1001-Exon 22" "" "Unknown" "yes" "" "0" "" "" "g.94042151_94044664del" "" "pathogenic (recessive)" ""
"0000775494" "2" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Stone 2017:28559085}" "" "c.2588G>C / c.6088C>T Gly863Ala (G)GA>(G)CA / Arg2030Stop CGA>TGA" "" "Unknown" "yes" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000775495" "2" "90" "1" "94577136" "94577136" "subst" "0" "01695" "ABCA4_000116" "g.94577136C>T" "" "{PMID:Stone 2017:28559085}" "" "c.161-1G>A IVS2-1 G>A" "" "Unknown" "yes" "" "0" "" "" "g.94111580C>T" "" "pathogenic (recessive)" ""
"0000775496" "2" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Stone 2017:28559085}" "" "c.4139C>T Pro1380Leu CCG>CTG" "" "Unknown" "yes" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000775497" "0" "50" "1" "94495008" "94495008" "subst" "0" "01695" "ABCA4_000055" "g.94495008G>C" "" "{PMID:Stone 2017:28559085}" "" "c.4532C>G Pro1511Arg CCC>CGC" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94029452G>C" "" "VUS" ""
"0000775498" "0" "70" "1" "94496583" "94496583" "subst" "2.03092E-5" "01695" "ABCA4_000190" "g.94496583A>G" "" "{PMID:Stone 2017:28559085}" "" "c.4222T>C / c.4918C>T Trp1408Arg TGG>CGG / Arg1640Trp CGG>TGG" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94031027A>G" "" "likely pathogenic (recessive)" ""
"0000775499" "2" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Stone 2017:28559085}" "" "c.768G>T Val256Val GTG>GTT" "" "Unknown" "yes" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000775500" "2" "70" "1" "94497393" "94497393" "subst" "2.04188E-5" "01695" "ABCA4_000578" "g.94497393C>T" "" "{PMID:Stone 2017:28559085}" "" "c.4069G>A Ala1357Thr GCG>ACG" "" "Unknown" "yes" "" "0" "" "" "g.94031837C>T" "" "likely pathogenic (recessive)" ""
"0000775501" "2" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Stone 2017:28559085}" "" "c.6079C>T Leu2027Phe CTC>TTC" "" "Unknown" "yes" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic (recessive)" ""
"0000775502" "2" "70" "1" "94487251" "94487251" "subst" "2.85679E-5" "01695" "ABCA4_000490" "g.94487251G>T" "" "{PMID:Stone 2017:28559085}" "" "c.4793C>A Ala1598Asp GCC>GAC" "" "Unknown" "yes" "" "0" "" "" "g.94021695G>T" "" "likely pathogenic (recessive)" ""
"0000775503" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Stone 2017:28559085}" "" "c.3322C>T Arg1108Cys CGC>TGC" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000775504" "2" "70" "1" "94467467" "94467467" "subst" "4.06164E-6" "01695" "ABCA4_000780" "g.94467467G>A" "" "{PMID:Stone 2017:28559085}" "" "c.6229C>T Arg2077Trp CGG>TGG" "" "Unknown" "yes" "" "0" "" "" "g.94001911G>A" "" "likely pathogenic (recessive)" ""
"0000775505" "2" "90" "1" "94466455" "94466455" "subst" "0" "01695" "ABCA4_000165" "g.94466455C>G" "" "{PMID:Stone 2017:28559085}" "" "c.6416G>C Arg2139Pro CGG>CCG" "" "Unknown" "yes" "" "0" "" "" "g.94000899C>G" "" "pathogenic (recessive)" ""
"0000775506" "2" "50" "1" "94496010" "94496010" "subst" "1.62434E-5" "01695" "ABCA4_000549" "g.94496010G>T" "" "{PMID:Stone 2017:28559085}" "" "c.4326C>A Asn1442Lys AAC>AAA" "" "Unknown" "yes" "" "0" "" "" "g.94030454G>T" "" "VUS" ""
"0000775507" "2" "90" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Stone 2017:28559085}" "" "c.2894A>G Asn965Ser AAT>AGT" "" "Unknown" "yes" "" "0" "" "" "g.94046943T>C" "" "pathogenic (recessive)" ""
"0000775508" "0" "70" "1" "94564504" "94564504" "subst" "0" "01695" "ABCA4_001479" "g.94564504C>A" "" "{PMID:Stone 2017:28559085}" "" "c.614G>T Cys205Phe TGC>TTC" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94098948C>A" "" "likely pathogenic (recessive)" ""
"0000775509" "2" "70" "1" "94466422" "94466422" "subst" "2.43651E-5" "01695" "ABCA4_000817" "g.94466422C>T" "" "{PMID:Stone 2017:28559085}" "" "c.6449G>A Cys2150Tyr TGT>TAT" "" "Unknown" "yes" "" "0" "" "" "g.94000866C>T" "" "likely pathogenic (recessive)" ""
"0000775510" "2" "90" "1" "94528164" "94528164" "subst" "2.03336E-5" "01695" "ABCA4_000267" "g.94528164G>A" "" "{PMID:Stone 2017:28559085}" "" "c.1906C>T Gln636Stop CAG>TAG" "" "Unknown" "yes" "" "0" "" "" "g.94062608G>A" "" "pathogenic (recessive)" ""
"0000775511" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Stone 2017:28559085}" "" "c.5714+5G>A IVS40+5 G>A" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000775512" "2" "90" "1" "94546185" "94546185" "del" "0" "01695" "ABCA4_000350" "g.94546185del" "" "{PMID:Stone 2017:28559085}" "" "c.948delG Met316 del1atG" "" "Unknown" "yes" "" "0" "" "" "g.94080629del" "" "pathogenic (recessive)" ""
"0000775513" "0" "70" "1" "94546126" "94546126" "subst" "2.03383E-5" "01695" "ABCA4_000343" "g.94546126G>C" "" "{PMID:Stone 2017:28559085}" "" "c.1007C>G Ser336Cys TCC>TGC" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94080570G>C" "" "likely pathogenic (recessive)" ""
"0000775514" "2" "90" "1" "94544185" "94544185" "subst" "8.12137E-6" "01695" "ABCA4_000177" "g.94544185C>T" "" "{PMID:Stone 2017:28559085}" "" "c.1317G>A Trp439Stop TGG>TGA" "" "Unknown" "yes" "" "0" "" "" "g.94078629C>T" "" "pathogenic (recessive)" ""
"0000775515" "2" "90" "1" "94528784" "94528784" "subst" "0" "01695" "ABCA4_001475" "g.94528784C>T" "" "{PMID:Stone 2017:28559085}" "" "c.1644G>A Trp548Stop TGG>TGA" "" "Unknown" "yes" "" "0" "" "" "g.94063228C>T" "" "pathogenic (recessive)" ""
"0000775516" "2" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Stone 2017:28559085}" "" "c.768G>T Val256Val GTG>GTT" "" "Unknown" "yes" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000775517" "2" "70" "1" "94568677" "94568677" "subst" "0" "01695" "ABCA4_001480" "g.94568677T>A" "" "{PMID:Stone 2017:28559085}" "" "c.464A>T Asp155Val GAT>GTT" "" "Unknown" "yes" "" "0" "" "" "g.94103121T>A" "" "likely pathogenic (recessive)" ""
"0000775518" "2" "70" "1" "94508322" "94508322" "subst" "1.62513E-5" "01695" "ABCA4_000128" "g.94508322C>T" "" "{PMID:Stone 2017:28559085}" "" "c.3323G>A Arg1108His CGC>CAC" "" "Unknown" "yes" "" "0" "" "" "g.94042766C>T" "" "likely pathogenic (recessive)" ""
"0000775519" "2" "90" "1" "94508456" "94508456" "subst" "4.0621E-6" "01695" "ABCA4_000650" "g.94508456T>C" "" "{PMID:Stone 2017:28559085}" "" "c.3191-2A>G IVS21-2 A>G" "" "Unknown" "yes" "" "0" "" "" "g.94042900T>C" "" "pathogenic (recessive)" ""
"0000775520" "2" "70" "1" "94484001" "94484001" "subst" "0" "01695" "ABCA4_000016" "g.94484001C>T" "" "{PMID:Stone 2017:28559085}" "" "c.5196+1137G>A IVS36+1137 G>A" "" "Unknown" "yes" "" "0" "" "" "g.94018445C>T" "" "likely pathogenic (recessive)" ""
"0000775521" "2" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Stone 2017:28559085}" "" "c.5714+5G>A IVS40+5 G>A" "" "Unknown" "yes" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000775522" "2" "50" "1" "94520722" "94520722" "subst" "0" "01695" "ABCA4_002021" "g.94520722G>C" "" "{PMID:Stone 2017:28559085}" "" "c.2532C>G Leu844Arg CTC>CGC" "" "Unknown" "yes" "" "0" "" "" "g.94055166G>C" "" "VUS" ""
"0000775523" "2" "70" "1" "94473244" "94473244" "subst" "4.07169E-6" "01695" "ABCA4_001449" "g.94473244A>C" "" "{PMID:Stone 2017:28559085}" "" "c.5951T>G Met1984Arg ATG>AGG" "" "Unknown" "yes" "" "0" "" "" "g.94007688A>C" "" "likely pathogenic (recessive)" ""
"0000775524" "2" "70" "1" "94544249" "94544249" "subst" "8.12196E-6" "01695" "ABCA4_000323" "g.94544249A>G" "" "{PMID:Stone 2017:28559085}" "" "c.1253T>C Phe418Ser TTT>TCT" "" "Unknown" "yes" "" "0" "" "" "g.94078693A>G" "" "likely pathogenic (recessive)" ""
"0000775525" "2" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Stone 2017:28559085}" "" "c.768G>T Val256Val GTG>GTT" "" "Unknown" "yes" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000775526" "2" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Stone 2017:28559085}" "" "c.1804C>T Arg602Trp CGG>TGG" "" "Unknown" "yes" "" "0" "" "" "g.94062710G>A" "" "pathogenic (recessive)" ""
"0000775527" "2" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Stone 2017:28559085}" "" "c.1804C>T Arg602Trp CGG>TGG" "" "Unknown" "yes" "" "0" "" "" "g.94062710G>A" "" "pathogenic (recessive)" ""
"0000775528" "2" "70" "1" "94467467" "94467467" "subst" "4.06164E-6" "01695" "ABCA4_000780" "g.94467467G>A" "" "{PMID:Stone 2017:28559085}" "" "c.6229C>T Arg2077Trp CGG>TGG" "" "Unknown" "yes" "" "0" "" "" "g.94001911G>A" "" "likely pathogenic (recessive)" ""
"0000775529" "2" "90" "1" "94526296" "94526296" "subst" "1.64555E-5" "01695" "ABCA4_000768" "g.94526296G>A" "" "{PMID:Stone 2017:28559085}" "" "c.1957C>T Arg653Cys CGC>TGC" "" "Unknown" "yes" "" "0" "" "" "g.94060740G>A" "" "pathogenic (recessive)" ""
"0000775530" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Stone 2017:28559085}" "" "c.6079C>T Leu2027Phe CTC>TTC" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic (recessive)" ""
"0000775531" "2" "70" "1" "94528248" "94528248" "subst" "1.22148E-5" "01695" "ABCA4_000279" "g.94528248A>T" "" "{PMID:Stone 2017:28559085}" "" "c.1822T>A Phe608Ile TTT>ATT" "" "Unknown" "yes" "" "0" "" "" "g.94062692A>T" "" "likely pathogenic (recessive)" ""
"0000775532" "2" "70" "1" "94480182" "94480182" "subst" "0" "01695" "ABCA4_001452" "g.94480182C>T" "" "{PMID:Stone 2017:28559085}" "" "c.5377G>A Val1793Met GTG>ATG" "" "Unknown" "yes" "" "0" "" "" "g.94014626C>T" "" "likely pathogenic (recessive)" ""
"0000775533" "2" "70" "1" "94528780" "94528780" "subst" "4.06171E-6" "01695" "ABCA4_000299" "g.94528780C>T" "" "{PMID:Stone 2017:28559085}" "" "c.1648G>A Gly550Arg GGA>AGA" "" "Unknown" "yes" "" "0" "" "" "g.94063224C>T" "" "likely pathogenic (recessive)" ""
"0000775534" "2" "70" "1" "94506935" "94506935" "subst" "0" "01695" "ABCA4_001466" "g.94506935G>C" "" "{PMID:Stone 2017:28559085}" "" "c.3352C>G His1118Asp CAC>GAC" "" "Unknown" "yes" "" "0" "" "" "g.94041379G>C" "" "likely pathogenic (recessive)" ""
"0000775535" "2" "50" "1" "94492973" "94492973" "subst" "0" "01695" "ABCA4_000030" "g.94492973G>A" "" "{PMID:Stone 2017:28559085}" "" "c.4539+2028C>T IVS30+2028 C>T" "" "Unknown" "yes" "" "0" "" "" "g.94027417G>A" "" "VUS" ""
"0000775536" "2" "70" "1" "94476853" "94476853" "subst" "4.06243E-6" "01695" "ABCA4_000429" "g.94476853A>G" "" "{PMID:Stone 2017:28559085}" "" "c.5549T>C Leu1850Pro CTG>CCG" "" "Unknown" "yes" "" "0" "" "" "g.94011297A>G" "" "likely pathogenic (recessive)" ""
"0000775537" "2" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Stone 2017:28559085}" "" "c.6079C>T Leu2027Phe CTC>TTC" "" "Unknown" "yes" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic (recessive)" ""
"0000775538" "2" "70" "1" "94522266" "94522266" "subst" "0" "01695" "ABCA4_001469" "g.94522266G>A" "" "{PMID:Stone 2017:28559085}" "" "c.2273C>T Ala758Val GCC>GTC" "" "Unknown" "yes" "" "0" "" "" "g.94056710G>A" "" "likely pathogenic (recessive)" ""
"0000775539" "0" "70" "1" "94508322" "94508322" "subst" "1.62513E-5" "01695" "ABCA4_000128" "g.94508322C>T" "" "{PMID:Stone 2017:28559085}" "" "c.3323G>A Arg1108His CGC>CAC" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94042766C>T" "" "likely pathogenic (recessive)" ""
"0000775540" "2" "90" "1" "94526296" "94526296" "subst" "1.64555E-5" "01695" "ABCA4_000768" "g.94526296G>A" "" "{PMID:Stone 2017:28559085}" "" "c.1957C>T Arg653Cys CGC>TGC" "" "Unknown" "yes" "" "0" "" "" "g.94060740G>A" "" "pathogenic (recessive)" ""
"0000775541" "2" "50" "1" "94493680" "94493680" "subst" "0" "01695" "ABCA4_001459" "g.94493680T>C" "" "{PMID:Stone 2017:28559085}" "" "c.4539+1321A>G IVS30+1321 A>G" "" "Unknown" "yes" "" "0" "" "" "g.94028124T>C" "" "VUS" ""
"0000775542" "0" "70" "1" "94577135" "94577135" "subst" "2.43718E-5" "01695" "ABCA4_000240" "g.94577135C>T" "" "{PMID:Stone 2017:28559085}" "" "c.161G>A Cys54Tyr (T)GC>(T)AC" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94111579C>T" "" "likely pathogenic (recessive)" ""
"0000775543" "2" "90" "1" "94546098" "94546111" "del" "0" "01695" "ABCA4_000022" "g.94546098_94546111del" "" "{PMID:Stone 2017:28559085}" "" "c.1022_1035delAAGACAATAACTAT Glu341 del14gAAGACAATAACTAT" "" "Unknown" "yes" "" "0" "" "" "g.94080542_94080555del" "" "pathogenic (recessive)" ""
"0000775544" "0" "10" "1" "94505604" "94505604" "subst" "0.00645586" "01695" "ABCA4_000092" "g.94505604A>C" "" "{PMID:Stone 2017:28559085}" "" "c.3602T>G / c.6119G>A Leu1201Arg CTG>CGG / Arg2040Gln CGA>CAA" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94040048A>C" "" "benign" ""
"0000775545" "2" "70" "1" "94467467" "94467467" "subst" "4.06164E-6" "01695" "ABCA4_000780" "g.94467467G>A" "" "{PMID:Stone 2017:28559085}" "" "c.6229C>T Arg2077Trp CGG>TGG" "" "Unknown" "yes" "" "0" "" "" "g.94001911G>A" "" "likely pathogenic (recessive)" ""
"0000775546" "0" "70" "1" "94466422" "94466422" "subst" "2.43651E-5" "01695" "ABCA4_000817" "g.94466422C>T" "" "{PMID:Stone 2017:28559085}" "" "c.6449G>A Cys2150Tyr TGT>TAT" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94000866C>T" "" "likely pathogenic (recessive)" ""
"0000775547" "2" "90" "1" "94574275" "94574275" "subst" "0" "01695" "ABCA4_001025" "g.94574275G>C" "" "{PMID:Stone 2017:28559085}" "" "c.303-3C>G IVS3-3 C>G" "" "Unknown" "yes" "" "0" "" "" "g.94108719G>C" "" "pathogenic (recessive)" ""
"0000775548" "2" "50" "1" "94493680" "94493680" "subst" "0" "01695" "ABCA4_001459" "g.94493680T>C" "" "{PMID:Stone 2017:28559085}" "" "c.4539+1321A>G IVS30+1321 A>G" "" "Unknown" "yes" "" "0" "" "" "g.94028124T>C" "" "VUS" ""
"0000775549" "2" "10" "1" "94505604" "94505604" "subst" "0.00645586" "01695" "ABCA4_000092" "g.94505604A>C" "" "{PMID:Stone 2017:28559085}" "" "c.3602T>G Leu1201Arg CTG>CGG" "" "Unknown" "yes" "" "0" "" "" "g.94040048A>C" "" "benign" ""
"0000775550" "2" "90" "1" "94528251" "94528251" "subst" "2.84824E-5" "01695" "ABCA4_000281" "g.94528251C>T" "" "{PMID:Stone 2017:28559085}" "" "c.1819G>A Gly607Arg GGG>AGG" "" "Unknown" "yes" "" "0" "" "" "g.94062695C>T" "" "pathogenic (recessive)" ""
"0000775551" "0" "50" "1" "94476824" "94476824" "subst" "8.12889E-6" "01695" "ABCA4_000428" "g.94476824G>A" "" "{PMID:Stone 2017:28559085}" "" "c.5578C>T Arg1860Trp CGG>TGG" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94011268G>A" "" "VUS" ""
"0000775552" "0" "70" "1" "94578619" "94578619" "subst" "2.85088E-5" "01695" "ABCA4_000253" "g.94578619G>A" "" "{PMID:Stone 2017:28559085}" "" "c.70C>T Arg24Cys CGC>TGC" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94113063G>A" "" "likely pathogenic (recessive)" ""
"0000775553" "2" "90" "1" "94496571" "94496571" "subst" "4.06174E-6" "01695" "ABCA4_000111" "g.94496571G>A" "" "{PMID:Stone 2017:28559085}" "" "c.4234C>T Gln1412Stop CAG>TAG" "" "Unknown" "yes" "" "0" "" "" "g.94031015G>A" "" "pathogenic (recessive)" ""
"0000775554" "2" "70" "1" "94546261" "94546261" "subst" "0.000648567" "01695" "ABCA4_000353" "g.94546261G>A" "" "{PMID:Stone 2017:28559085}" "" "c.872C>T / c.4222T>C Pro291Leu CCG>CTG / Trp1408Arg TGG>CGG" "" "Unknown" "yes" "" "0" "" "" "g.94080705G>A" "" "likely pathogenic (recessive)" ""
"0000775555" "2" "90" "1" "94546098" "94546111" "del" "0" "01695" "ABCA4_000022" "g.94546098_94546111del" "" "{PMID:Stone 2017:28559085}" "" "c.1022_1035delAAGACAATAACTAT Glu341 del14gAAGACAATAACTAT" "" "Unknown" "yes" "" "0" "" "" "g.94080542_94080555del" "" "pathogenic (recessive)" ""
"0000775556" "2" "70" "1" "94490567" "94490567" "subst" "5.68528E-5" "01695" "ABCA4_000026" "g.94490567G>A" "" "{PMID:Stone 2017:28559085}" "" "c.4577C>T Thr1526Met ACG>ATG" "" "Unknown" "yes" "" "0" "" "" "g.94025011G>A" "" "likely pathogenic (recessive)" ""
"0000775557" "2" "70" "1" "94490567" "94490567" "subst" "5.68528E-5" "01695" "ABCA4_000026" "g.94490567G>A" "" "{PMID:Stone 2017:28559085}" "" "c.4577C>T Thr1526Met ACG>ATG" "" "Unknown" "yes" "" "0" "" "" "g.94025011G>A" "" "likely pathogenic (recessive)" ""
"0000775558" "0" "90" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Stone 2017:28559085}" "" "c.6320G>A Arg2107His CGC>CAC" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94001068C>T" "" "pathogenic (recessive)" ""
"0000775559" "0" "70" "1" "94467451" "94467451" "subst" "0" "01695" "ABCA4_000736" "g.94467451G>A" "" "{PMID:Stone 2017:28559085}" "" "c.6245C>T" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94001895G>A" "" "likely pathogenic (recessive)" ""
"0000775560" "2" "70" "1" "94564372" "94564372" "subst" "0" "01695" "ABCA4_000366" "g.94564372T>C" "" "{PMID:Stone 2017:28559085}" "" "c.746A>G Asp249Gly GAC>GGC" "" "Unknown" "yes" "" "0" "" "" "g.94098816T>C" "" "likely pathogenic (recessive)" ""
"0000775561" "0" "90" "1" "94467530" "94467530" "subst" "0" "01695" "ABCA4_001448" "g.94467530T>A" "" "{PMID:Stone 2017:28559085}" "" "c.6166A>T Lys2056Stop AAG>TAG" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94001974T>A" "" "pathogenic (recessive)" ""
"0000775562" "2" "70" "1" "94528157" "94528157" "subst" "0" "01695" "ABCA4_001471" "g.94528157G>A" "" "{PMID:Stone 2017:28559085}" "" "c.1913C>T Pro638Leu CCC>CTC" "" "Unknown" "yes" "" "0" "" "" "g.94062601G>A" "" "likely pathogenic (recessive)" ""
"0000775563" "2" "90" "1" "94544185" "94544185" "subst" "8.12137E-6" "01695" "ABCA4_000177" "g.94544185C>T" "" "{PMID:Stone 2017:28559085}" "" "c.1317G>A Trp439Stop TGG>TGA" "" "Unknown" "yes" "" "0" "" "" "g.94078629C>T" "" "pathogenic (recessive)" ""
"0000775564" "2" "90" "1" "94544877" "94544877" "subst" "0" "01695" "ABCA4_001477" "g.94544877C>T" "" "{PMID:Stone 2017:28559085}" "" "c.1239+1G>A IVS9+1 G>A" "" "Unknown" "yes" "" "0" "" "" "g.94079321C>T" "" "pathogenic (recessive)" ""
"0000775565" "0" "90" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Stone 2017:28559085}" "" "c.634C>T Arg212Cys CGC>TGC" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94098928G>A" "" "pathogenic (recessive)" ""
"0000775566" "2" "50" "1" "94480221" "94480221" "subst" "0.000109654" "01695" "ABCA4_000176" "g.94480221G>C" "" "{PMID:Stone 2017:28559085}" "" "c.5338C>G Pro1780Ala CCA>CGA" "" "Unknown" "yes" "" "0" "" "" "g.94014665G>C" "" "VUS" ""
"0000775567" "0" "90" "1" "94487195" "94487195" "subst" "0" "01695" "ABCA4_001454" "g.94487195C>A" "" "{PMID:Stone 2017:28559085}" "" "c.4848+1G>T IVS34+1 G>T" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94021639C>A" "" "pathogenic (recessive)" ""
"0000775568" "2" "70" "1" "94495078" "94495078" "subst" "8.37044E-6" "01695" "ABCA4_000042" "g.94495078A>G" "" "{PMID:Stone 2017:28559085}" "" "c.4462T>C Cys1488Arg TGC>CGC" "" "Unknown" "yes" "" "0" "" "" "g.94029522A>G" "" "likely pathogenic (recessive)" ""
"0000775569" "1" "70" "1" "94506952" "94506952" "subst" "0" "01695" "ABCA4_000628" "g.94506952G>T" "" "{PMID:Stone 2017:28559085}" "" "c.3335C>A Thr1112Asn ACC>AAC" "" "Unknown" "yes" "" "0" "" "" "g.94041396G>T" "" "likely pathogenic (recessive)" ""
"0000775570" "2" "70" "1" "94476413" "94476413" "subst" "0" "01695" "ABCA4_000415" "g.94476413C>T" "" "{PMID:Stone 2017:28559085}" "" "c.5657G>A Gly1886Glu GGG>GAG" "" "Unknown" "yes" "" "0" "" "" "g.94010857C>T" "" "likely pathogenic (recessive)" ""
"0000775571" "2" "70" "1" "94493000" "94493000" "subst" "0" "01695" "ABCA4_000015" "g.94493000C>T" "" "{PMID:Stone 2017:28559085}" "" "c.4539+2001G>A IVS30+2001 G>A" "" "Unknown" "yes" "" "0" "" "" "g.94027444C>T" "" "likely pathogenic (recessive)" ""
"0000775572" "2" "70" "1" "94526286" "94526286" "subst" "0" "01695" "ABCA4_000766" "g.94526286G>A" "" "{PMID:Stone 2017:28559085}" "" "c.1967C>T Pro656Leu CCT>CTT" "" "Unknown" "yes" "" "0" "" "" "g.94060730G>A" "" "likely pathogenic (recessive)" ""
"0000775573" "0" "50" "1" "94520853" "94520853" "subst" "8.14783E-6" "01695" "ABCA4_000729" "g.94520853C>T" "" "{PMID:Stone 2017:28559085}" "" "c.2401G>A Ala801Thr GCA>ACA" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94055297C>T" "" "VUS" ""
"0000775574" "2" "50" "1" "94543389" "94543389" "subst" "0.000861235" "01695" "ABCA4_000312" "g.94543389C>T" "" "{PMID:Stone 2017:28559085}" "" "c.1411G>A / c.6391G>A Glu471Lys GAA>AAA / Glu2131Lys GAA>AAA" "" "Unknown" "yes" "" "0" "" "" "g.94077833C>T" "" "VUS" ""
"0000775575" "2" "90" "1" "94526265" "94526265" "subst" "0" "01695" "ABCA4_000143" "g.94526265C>T" "" "{PMID:Stone 2017:28559085}" "" "c.1988G>A Trp663Stop TGG>TAG" "" "Unknown" "yes" "" "0" "" "" "g.94060709C>T" "" "pathogenic (recessive)" ""
"0000775576" "2" "90" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Stone 2017:28559085}" "" "c.6320G>A Arg2107His CGC>CAC" "" "Unknown" "yes" "" "0" "" "" "g.94001068C>T" "" "pathogenic (recessive)" ""
"0000775577" "2" "70" "1" "94476424" "94476424" "subst" "2.43694E-5" "01695" "ABCA4_000418" "g.94476424C>T" "" "{PMID:Stone 2017:28559085}" "" "c.5646G>A Met1882Ile ATG>ATA" "" "Unknown" "yes" "" "0" "" "" "g.94010868C>T" "" "likely pathogenic (recessive)" ""
"0000775578" "0" "90" "1" "94496571" "94496571" "subst" "4.06174E-6" "01695" "ABCA4_000111" "g.94496571G>A" "" "{PMID:Stone 2017:28559085}" "" "c.4234C>T Gln1412Stop CAG>TAG" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94031015G>A" "" "pathogenic (recessive)" ""
"0000775579" "2" "90" "1" "94483922" "94483922" "subst" "0" "01695" "ABCA4_000027" "g.94483922G>T" "" "{PMID:Stone 2017:28559085}" "" "c.5196+1216C>A IVS36+1216 C>A" "" "Unknown" "yes" "" "0" "" "" "g.94018366G>T" "" "pathogenic (recessive)" ""
"0000775580" "0" "90" "1" "94490605" "94490605" "subst" "0" "01695" "ABCA4_001458" "g.94490605C>T" "" "{PMID:Stone 2017:28559085}" "" "c.4540-1G>A IVS30-1 G>A" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94025049C>T" "" "pathogenic (recessive)" ""
"0000775581" "2" "70" "1" "94577135" "94577135" "subst" "2.43718E-5" "01695" "ABCA4_000240" "g.94577135C>T" "" "{PMID:Stone 2017:28559085}" "" "c.161G>A Cys54Tyr (T)GC>(T)AC" "" "Unknown" "yes" "" "0" "" "" "g.94111579C>T" "" "likely pathogenic (recessive)" ""
"0000775582" "0" "70" "1" "94486896" "94486896" "subst" "3.65562E-5" "01695" "ABCA4_000085" "g.94486896G>A" "" "{PMID:Stone 2017:28559085}" "" "c.4918C>T Arg1640Trp CGG>TGG" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94021340G>A" "" "likely pathogenic (recessive)" ""
"0000775583" "0" "90" "1" "94508386" "94508386" "subst" "1.62443E-5" "01695" "ABCA4_000642" "g.94508386C>T" "" "{PMID:Stone 2017:28559085}" "" "c.3259G>A Glu1087Lys GAA>AAA" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94042830C>T" "" "pathogenic (recessive)" ""
"0000775584" "2" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Stone 2017:28559085}" "" "c.2588G>C / c.6088C>T Gly863Ala (G)GA>(G)CA / Arg2030Stop CGA>TGA" "" "Unknown" "yes" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000775585" "2" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Stone 2017:28559085}" "" "c.3322C>T Arg1108Cys CGC>TGC" "" "Unknown" "yes" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000775586" "0" "90" "1" "94509026" "94509026" "subst" "4.06497E-5" "01695" "ABCA4_000660" "g.94509026G>A" "" "{PMID:Jimenez-Rolando 2018:28571903}" "" "c.C3056T:p.T1019M" "" "Unknown" "" "" "0" "" "" "g.94043470G>A" "" "pathogenic (recessive)" ""
"0000775587" "0" "90" "1" "94577011" "94577011" "del" "0" "01695" "ABCA4_000160" "g.94577011del" "" "{PMID:Jimenez-Rolando 2018:28571903}" "" "c.287del:p.Asn96Thrfs*19" "" "Unknown" "" "" "0" "" "" "g.94111455del" "" "pathogenic (recessive)" ""
"0000775588" "0" "50" "1" "94520768" "94520768" "subst" "0.00016668" "01695" "ABCA4_000721" "g.94520768G>A" "" "{PMID:Kaway 2017:28611652}" "" "Thr829Met (c.2486C>T)" "" "Unknown" "" "" "0" "" "" "g.94055212G>A" "" "VUS" ""
"0000775589" "1" "70" "1" "94522290" "94522290" "subst" "0" "01695" "ABCA4_002047" "g.94522290A>G" "" "{PMID:Abalem 2017:28726568}" "" "p.L750P c.2249T>C" "" "Unknown" "yes" "" "0" "" "" "g.94056734A>G" "" "likely pathogenic (recessive)" ""
"0000775590" "0" "70" "1" "94522290" "94522290" "subst" "0" "01695" "ABCA4_002047" "g.94522290A>G" "" "{PMID:Abalem 2017:28726568}" "" "p.L750P c.2249T>C" "" "Unknown" "yes" "" "0" "" "" "g.94056734A>G" "" "likely pathogenic (recessive)" ""
"0000775591" "11" "90" "1" "94467511" "94467514" "del" "0" "01695" "ABCA4_001607" "g.94467511_94467514del" "" "{PMID:Wangtiraumnuay 2018:28885670}" "" "c.6184_6187delGTCT" "" "Unknown" "" "" "0" "" "" "g.94001955_94001958del" "" "pathogenic (recessive)" ""
"0000775592" "0" "70" "1" "94528819" "94528819" "subst" "2.03128E-5" "01695" "ABCA4_000078" "g.94528819G>A" "" "{PMID:Tanaka 2018:28947085}" "" "p.R537C" "" "Unknown" "" "" "0" "" "" "g.94063263G>A" "" "likely pathogenic (recessive)" ""
"0000775593" "0" "90" "1" "94471056" "94471056" "subst" "2.84398E-5" "01695" "ABCA4_000050" "g.94471056G>A" "" "{PMID:Tanaka 2018:28947085}" "" "p.R2030*" "" "Unknown" "" "" "0" "" "" "g.94005500G>A" "" "pathogenic (recessive)" ""
"0000775594" "0" "90" "1" "94473263" "94473263" "del" "0" "01695" "ABCA4_000388" "g.94473263del" "" "{PMID:Tanaka 2018:28947085}" "" "p.T1979fs" "" "Unknown" "" "" "0" "" "" "g.94007707del" "" "pathogenic (recessive)" ""
"0000775595" "1" "70" "1" "94522239" "94522239" "subst" "2.03305E-5" "01695" "ABCA4_000736" "g.94522239A>T" "" "{PMID:Tanaka 2018:28947085}" "" "p.[Y245*/V767D]" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94056683A>T" "" "likely pathogenic (recessive)" ""
"0000775596" "0" "70" "1" "94528149" "94528149" "subst" "0" "01695" "ABCA4_002069" "g.94528149A>C" "" "{PMID:Tanaka 2018:28947085}" "" "p.C641*" "" "Unknown" "" "" "0" "" "" "g.94062593A>C" "" "likely pathogenic (recessive)" ""
"0000775597" "0" "90" "1" "94526092" "94526092" "subst" "0" "01695" "ABCA4_000748" "g.94526092C>G" "" "{PMID:Tanaka 2018:28947085}" "" "c.2160+1G>C" "" "Unknown" "" "" "0" "" "" "g.94060536C>G" "" "pathogenic (recessive)" ""
"0000775598" "0" "90" "1" "94526092" "94526092" "subst" "0" "01695" "ABCA4_000748" "g.94526092C>G" "" "{PMID:Tanaka 2018:28947085}" "" "c.2160+1G>C" "" "Unknown" "" "" "0" "" "" "g.94060536C>G" "" "pathogenic (recessive)" ""
"0000775599" "0" "90" "1" "94544877" "94544877" "subst" "4.06124E-6" "01695" "ABCA4_000326" "g.94544877C>G" "" "{PMID:Tanaka 2018:28947085}" "" "c.1239+1G>C" "" "Unknown" "" "" "0" "" "" "g.94079321C>G" "" "pathogenic (recessive)" ""
"0000775600" "0" "70" "1" "94466627" "94466627" "subst" "4.06408E-6" "01695" "ABCA4_000867" "g.94466627C>T" "" "{PMID:Tanaka 2018:28947085}" "" "p.R2106H" "" "Unknown" "" "" "0" "" "" "g.94001071C>T" "" "likely pathogenic (recessive)" ""
"0000775601" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Tanaka 2018:28947085}" "" "p.P1380L" "" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000775602" "0" "70" "1" "94486896" "94486896" "subst" "3.65562E-5" "01695" "ABCA4_000085" "g.94486896G>A" "" "{PMID:Sheremet 2017:28980559}" "" "c.C4918T p.R1640W" "" "Unknown" "" "" "0" "" "" "g.94021340G>A" "" "likely pathogenic (recessive)" ""
"0000775603" "0" "50" "1" "94480146" "94480146" "subst" "2.84273E-5" "01695" "ABCA4_000122" "g.94480146T>C" "" "{PMID:Sheremet 2017:28980559}" "" "c.A5413G p.N1805D" "" "Unknown" "" "" "0" "" "" "g.94014590T>C" "" "VUS" ""
"0000775604" "0" "90" "1" "94490605" "94490605" "subst" "0" "01695" "ABCA4_001458" "g.94490605C>T" "" "{PMID:Sheremet 2017:28980559}" "" "c.4540-1G>A RNAPD*" "" "Unknown" "" "" "0" "" "" "g.94025049C>T" "" "pathogenic (recessive)" ""
"0000775605" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Sheremet 2017:28980559}" "" "c.C 3113T c.T1622C p.A1038V p.L541P" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000775606" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Sheremet 2017:28980559}" "" "c.C 3113T c.T1622C p.A1038V p.L541P" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000775607" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sheremet 2017:28980559}" "" "c.G5882A p.G1961E" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000775608" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Sheremet 2017:28980559}" "" "c.C 3113T c.T1622C p.A1038V p.L541P" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000775609" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Sheremet 2017:28980559}" "" "?.G2588C ?.G2828A p.G863A p.R943Q" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000775610" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Sheremet 2017:28980559}" "" "c.T1622C" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000775611" "0" "90" "1" "94548998" "94548998" "subst" "0" "01695" "ABCA4_000362" "g.94548998C>A" "" "{PMID:Sheremet 2017:28980559}" "" "c.768-1G>T p.V256V" "" "Unknown" "" "" "0" "" "" "g.94083442C>A" "" "pathogenic (recessive)" ""
"0000775612" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Sheremet 2017:28980559}" "" "c.C3113T c.T1622C p.A1038V p.L541P" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000775613" "0" "90" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Sheremet 2017:28980559}" "" "c.C634T p.R212C" "" "Unknown" "" "" "0" "" "" "g.94098928G>A" "" "pathogenic (recessive)" ""
"0000775614" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Sheremet 2017:28980559}" "" "c.C3113T c.T1622C p.A1038V p.L541P" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000775615" "0" "90" "1" "94544906" "94544906" "subst" "4.06144E-6" "01695" "ABCA4_001478" "g.94544906G>C" "" "{PMID:Sheremet 2017:28980559}" "" "?.C1211G p.S404X" "" "Unknown" "" "" "0" "" "" "g.94079350G>C" "" "pathogenic (recessive)" ""
"0000775616" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Sheremet 2017:28980559}" "" "c.C 3113T c.T1622C p.A1038V p.L541P" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000775617" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Sheremet 2017:28980559}" "" "c.C 3113T c.T1622C p.A1038V p.L541P" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000775618" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Sheremet 2017:28980559}" "" "c.C 3113T c.T1622C p.A1038V p.L541P" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000775619" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Sheremet 2017:28980559}" "" "c.C 3113T c.T1622C p.A1038V p.L541P" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000775620" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Sheremet 2017:28980559}" "" "c.C 3113T c.T1622C" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000775621" "0" "90" "1" "94490509" "94490509" "subst" "1.21843E-5" "01695" "ABCA4_001782" "g.94490509C>T" "" "{PMID:Sheremet 2017:28980559}" "" "c.4634+1G>- p.A1038V p.L541P" "" "Unknown" "" "" "0" "" "" "g.94024953C>T" "" "pathogenic (recessive)" ""
"0000775622" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Sheremet 2017:28980559}" "" "c.C 3113T c.T1622C" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000775623" "0" "90" "1" "94490509" "94490509" "subst" "1.21843E-5" "01695" "ABCA4_001782" "g.94490509C>T" "" "{PMID:Sheremet 2017:28980559}" "" "c.4634+1G>- p.A1038V p.L541P" "" "Unknown" "" "" "0" "" "" "g.94024953C>T" "" "pathogenic (recessive)" ""
"0000775624" "0" "50" "1" "94528167" "94528167" "subst" "0" "01695" "ABCA4_000145" "g.94528167G>T" "" "{PMID:Sheremet 2017:28980559}" "" "c.C1903A p.Q635K" "" "Unknown" "" "" "0" "" "" "g.94062611G>T" "" "VUS" ""
"0000775625" "0" "90" "1" "94517216" "94517216" "subst" "0" "01695" "ABCA4_001429" "g.94517216G>A" "" "{PMID:Sheremet 2017:28980559}" "" "c.C2626T p.Q876X" "" "Unknown" "" "" "0" "" "" "g.94051660G>A" "" "pathogenic (recessive)" ""
"0000775626" "0" "90" "1" "94517216" "94517216" "subst" "0" "01695" "ABCA4_001429" "g.94517216G>A" "" "{PMID:Sheremet 2017:28980559}" "" "c.C2626T p.Q876X" "" "Unknown" "" "" "0" "" "" "g.94051660G>A" "" "pathogenic (recessive)" ""
"0000775627" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Sheremet 2017:28980559}" "" "c.C 3113T c.T1622C p.A1038V p.L541P" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000775628" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Sheremet 2017:28980559}" "" "c.5714+5C>T" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000775629" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Sheremet 2017:28980559}" "" "[p.L541P;p.A1038V]" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000775630" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Sheremet 2017:28980559}" "" "[p.L541P;p.A1038V]" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000775631" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Sheremet 2017:28980559}" "" "[p.L541P;p.A1038V]" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000775632" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Sheremet 2017:28980559}" "" "[p.L541P;p.A1038V]" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000775633" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Sheremet 2017:28980559}" "" "[p.L541P;p.A1038V]" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000775634" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Sheremet 2017:28980559}" "" "[p.L541P;p.A1038V]" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000775635" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Sheremet 2017:28980559}" "" "[p.L541P;p.A1038V]" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000775636" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Sheremet 2017:28980559}" "" "[p.L541P;p.A1038V]" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000775637" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Sheremet 2017:28980559}" "" "[p.L541P;p.A1038V]" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000775638" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Sheremet 2017:28980559}" "" "[p.L541P;p.A1038V]" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000775639" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sheremet 2017:28980559}" "" "p.G1691E" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000775640" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sheremet 2017:28980559}" "" "p.G1691E" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000775641" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Sheremet 2017:28980559}" "" "[p.L541P;p.A1038V]" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000775642" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Sheremet 2017:28980559}" "" "[p.L541P;p.A1038V]" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000775643" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Sheremet 2017:28980559}" "" "[p.L541P;p.A1038V]" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000775644" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Sheremet 2017:28980559}" "" "[p.L541P;p.A1038V]" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000775645" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Sheremet 2017:28980559}" "" "[p.L541P;p.A1038V]" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000775646" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Sheremet 2017:28980559}" "" "[p.L541P;p.A1038V]" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000775647" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Sheremet 2017:28980559}" "" "[p.L541P;p.A1038V]" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000775648" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Sheremet 2017:28980559}" "" "[p.L541P;p.A1038V]" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000775649" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Sheremet 2017:28980559}" "" "[p.L541P;p.A1038V]" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000775650" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Sheremet 2017:28980559}" "" "[p.L541P;p.A1038V]" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000775651" "0" "90" "1" "94463488" "94463488" "subst" "5.2803E-5" "01695" "ABCA4_000802" "g.94463488G>A" "" "{PMID:Ciccone 2018:29028687}" "" "p.Q2220*" "" "Unknown" "" "" "0" "" "" "g.93997932G>A" "" "pathogenic (recessive)" ""
"0000775652" "0" "90" "1" "94466556" "94466556" "subst" "4.06164E-6" "01695" "ABCA4_000831" "g.94466556G>C" "" "{PMID:Ciccone 2018:29028687}" "" "IVS46:c.6386+2C>G" "" "Unknown" "" "" "0" "" "" "g.94001000G>C" "" "pathogenic (recessive)" ""
"0000775653" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Ciccone 2018:29028687}" "" "IVS38:c.5461-10T>C" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000775654" "0" "90" "1" "94528868" "94528868" "del" "0" "01695" "ABCA4_000304" "g.94528868del" "" "{PMID:Ciccone 2018:29028687}{PMID:Chen 2019:31015497}" "" "c.1561delG" "" "Unknown" "" "" "0" "" "" "g.94063312del" "" "pathogenic (recessive)" ""
"0000775655" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Avela 2018:29068140}" "" "c.1622T>C p.(Leu541Pro), c.3113C>T p.(Ala1038Val)," "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000775656" "0" "70" "1" "94528818" "94528818" "subst" "0.00205975" "01695" "ABCA4_001239" "g.94528818C>T" "" "{PMID:Avela 2018:29068140}" "" "c.1610G>A p.(Arg537His)" "" "Unknown" "" "" "0" "" "" "g.94063262C>T" "" "likely pathogenic (recessive)" ""
"0000775657" "0" "70" "1" "94526260" "94526260" "subst" "0" "01695" "ABCA4_002061" "g.94526260A>C" "" "{PMID:Avela 2018:29068140}" "" "c.1993G>T" "" "Unknown" "" "" "0" "" "" "g.94060704A>C" "" "likely pathogenic (recessive)" ""
"0000775658" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Avela 2018:29068140}" "" "c.1622T>C p.(Leu541Pro), c.3113C>T p.(Ala1038Val) heterozygous complex allele in one chromosome" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000775659" "1" "50" "1" "94496008" "94496008" "subst" "2.03056E-5" "01695" "ABCA4_000148" "g.94496008C>T" "" "{PMID:Salles 2017:29114839}" "" "Arg1443His]" "" "Unknown" "" "" "0" "" "" "g.94030452C>T" "" "VUS" ""
"0000775660" "2" "70" "1" "94514424" "94514424" "subst" "4.06105E-6" "01695" "ABCA4_000972" "g.94514424C>T" "" "{PMID:Salles 2017:29114839}" "" "p.Asp915Asn" "" "Unknown" "" "" "0" "" "" "g.94048868C>T" "" "likely pathogenic (recessive)" ""
"0000775661" "1" "50" "1" "94496008" "94496008" "subst" "2.03056E-5" "01695" "ABCA4_000148" "g.94496008C>T" "" "{PMID:Salles 2017:29114839}" "" "Arg1443His]" "" "Unknown" "" "" "0" "" "" "g.94030452C>T" "" "VUS" ""
"0000775662" "2" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Salles 2017:29114839}" "" "p.Arg602Trp" "" "Unknown" "" "" "0" "" "" "g.94062710G>A" "" "pathogenic (recessive)" ""
"0000775663" "1" "50" "1" "94496008" "94496008" "subst" "2.03056E-5" "01695" "ABCA4_000148" "g.94496008C>T" "" "{PMID:Salles 2017:29114839}" "" "Arg1443His]" "" "Unknown" "" "" "0" "" "" "g.94030452C>T" "" "VUS" ""
"0000775664" "2" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Salles 2017:29114839}" "" "p.Arg1129Leu" "" "Unknown" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000775665" "3" "50" "1" "94496008" "94496008" "subst" "2.03056E-5" "01695" "ABCA4_000148" "g.94496008C>T" "" "{PMID:Salles 2017:29114839}{PMID:Salles 2018:30093795}" "" "Arg1443His]" "" "Unknown" "" "" "0" "" "" "g.94030452C>T" "" "VUS" ""
"0000775666" "3" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Salles 2017:29114839}{PMID:Salles 2018:30093795}" "" "p.[Leu541Pro;Arg1443His]" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000775667" "3" "50" "1" "94496008" "94496008" "subst" "2.03056E-5" "01695" "ABCA4_000148" "g.94496008C>T" "" "{PMID:Salles 2017:29114839}{PMID:Salles 2018:30093795}" "" "p.[Leu541Pro;Arg1443His]" "" "Unknown" "" "" "0" "" "" "g.94030452C>T" "" "VUS" ""
"0000775668" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Salles 2017:29114839}" "" "Ala1038Val]" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000775669" "2" "90" "1" "94506960" "94506960" "subst" "8.12334E-6" "01695" "ABCA4_001912" "g.94506960T>A" "" "{PMID:Salles 2017:29114839}" "" "c.3329-2A>T" "" "Unknown" "" "" "0" "" "" "g.94041404T>A" "" "pathogenic (recessive)" ""
"0000775670" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Salles 2017:29114839}" "" "Ala1038Val]" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000775671" "2" "90" "1" "94506960" "94506960" "subst" "8.12334E-6" "01695" "ABCA4_001912" "g.94506960T>A" "" "{PMID:Salles 2017:29114839}" "" "c.3329-2A>T" "" "Unknown" "" "" "0" "" "" "g.94041404T>A" "" "pathogenic (recessive)" ""
"0000775672" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Salles 2017:29114839}" "" "Ala1038Val]" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000775673" "2" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Salles 2017:29114839}" "" "p.Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000775674" "1" "70" "1" "94485279" "94485293" "del" "0" "01695" "ABCA4_000476" "g.94485279_94485293del" "" "{PMID:Salles 2017:29114839}" "" "Val1682_Val1686del]" "" "Unknown" "" "" "0" "" "" "g.94019723_94019737del" "" "likely pathogenic (recessive)" ""
"0000775675" "2" "50" "1" "94512602" "94512602" "subst" "0.000369717" "01695" "ABCA4_000052" "g.94512602C>T" "" "{PMID:Salles 2017:29114839}" "" "p.Val931Met" "" "Unknown" "" "" "0" "" "" "g.94047046C>T" "" "VUS" ""
"0000775676" "1" "70" "1" "94485279" "94485293" "del" "0" "01695" "ABCA4_000476" "g.94485279_94485293del" "" "{PMID:Salles 2017:29114839}" "" "Val1682_Val1686del]" "" "Unknown" "" "" "0" "" "" "g.94019723_94019737del" "" "likely pathogenic (recessive)" ""
"0000775677" "2" "70" "1" "94495996" "94495996" "subst" "0" "01695" "ABCA4_001824" "g.94495996T>A" "" "{PMID:Salles 2017:29114839}" "" "p.Glu1447Val" "" "Unknown" "" "" "0" "" "" "g.94030440T>A" "" "likely pathogenic (recessive)" ""
"0000775678" "1" "70" "1" "94485279" "94485293" "del" "0" "01695" "ABCA4_000476" "g.94485279_94485293del" "" "{PMID:Salles 2017:29114839}" "" "Val1682_Val1686del]" "" "Unknown" "" "" "0" "" "" "g.94019723_94019737del" "" "likely pathogenic (recessive)" ""
"0000775679" "2" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Salles 2017:29114839}" "" "p.Arg602Trp" "" "Unknown" "" "" "0" "" "" "g.94062710G>A" "" "pathogenic (recessive)" ""
"0000775680" "1" "70" "1" "94485279" "94485293" "del" "0" "01695" "ABCA4_000476" "g.94485279_94485293del" "" "{PMID:Salles 2017:29114839}" "" "Val1682_Val1686del]" "" "Unknown" "" "" "0" "" "" "g.94019723_94019737del" "" "likely pathogenic (recessive)" ""
"0000775681" "2" "90" "1" "94509026" "94509026" "subst" "4.06497E-5" "01695" "ABCA4_000660" "g.94509026G>A" "" "{PMID:Salles 2017:29114839}" "" "p.Thr1019Met" "" "Unknown" "" "" "0" "" "" "g.94043470G>A" "" "pathogenic (recessive)" ""
"0000775682" "1" "70" "1" "94485279" "94485293" "del" "0" "01695" "ABCA4_000476" "g.94485279_94485293del" "" "{PMID:Salles 2017:29114839}" "" "Val1682_Val1686del]" "" "Unknown" "" "" "0" "" "" "g.94019723_94019737del" "" "likely pathogenic (recessive)" ""
"0000775683" "2" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Salles 2017:29114839}" "" "p.Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000775684" "1" "70" "1" "94485279" "94485293" "del" "0" "01695" "ABCA4_000476" "g.94485279_94485293del" "" "{PMID:Salles 2017:29114839}" "" "Val1682_Val1686del]" "" "Unknown" "" "" "0" "" "" "g.94019723_94019737del" "" "likely pathogenic (recessive)" ""
"0000775685" "2" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Salles 2017:29114839}" "" "p.Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000775686" "1" "70" "1" "94485279" "94485293" "del" "0" "01695" "ABCA4_000476" "g.94485279_94485293del" "" "{PMID:Salles 2017:29114839}" "" "Val1682_Val1686del]" "" "Unknown" "" "" "0" "" "" "g.94019723_94019737del" "" "likely pathogenic (recessive)" ""
"0000775687" "2" "70" "1" "94586536" "94586536" "subst" "0" "01695" "ABCA4_002247" "g.94586536C>A" "" "{PMID:Salles 2017:29114839}" "" "p.Lys22Ans" "" "Unknown" "" "" "0" "" "" "g.94120980C>A" "" "likely pathogenic (recessive)" ""
"0000775688" "2" "70" "1" "94586536" "94586536" "subst" "0" "01695" "ABCA4_002247" "g.94586536C>A" "" "{PMID:Salles 2017:29114839}{PMID:Salles 2018:30093795}" "" "p.Lys22Ans" "" "Unknown" "" "" "0" "" "" "g.94120980C>A" "" "likely pathogenic (recessive)" ""
"0000775689" "1" "70" "1" "94485279" "94485293" "del" "0" "01695" "ABCA4_000476" "g.94485279_94485293del" "" "{PMID:Salles 2017:29114839}" "" "Val1682_Val1686del]" "" "Unknown" "" "" "0" "" "" "g.94019723_94019737del" "" "likely pathogenic (recessive)" ""
"0000775690" "2" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Salles 2017:29114839}" "" "p.[Leu541Pro;Arg1443His]" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000775691" "2" "50" "1" "94496008" "94496008" "subst" "2.03056E-5" "01695" "ABCA4_000148" "g.94496008C>T" "" "{PMID:Salles 2017:29114839}" "" "p.[Leu541Pro;Arg1443His]" "" "Unknown" "" "" "0" "" "" "g.94030452C>T" "" "VUS" ""
"0000775692" "1" "90" "1" "94466628" "94466628" "subst" "0.000109748" "01695" "ABCA4_000094" "g.94466628G>A" "" "{PMID:Salles 2017:29114839}" "" "Arg2106Cys]" "" "Unknown" "" "" "0" "" "" "g.94001072G>A" "" "pathogenic (recessive)" ""
"0000775693" "2" "90" "1" "94522194" "94522194" "subst" "0" "01695" "ABCA4_000733" "g.94522194C>T" "" "{PMID:Salles 2017:29114839}" "" "p.Trp782*" "" "Unknown" "" "" "0" "" "" "g.94056638C>T" "" "pathogenic (recessive)" ""
"0000775694" "1" "90" "1" "94466628" "94466628" "subst" "0.000109748" "01695" "ABCA4_000094" "g.94466628G>A" "" "{PMID:Salles 2017:29114839}" "" "Arg2106Cys]" "" "Unknown" "" "" "0" "" "" "g.94001072G>A" "" "pathogenic (recessive)" ""
"0000775695" "2" "90" "1" "94522194" "94522194" "subst" "0" "01695" "ABCA4_000733" "g.94522194C>T" "" "{PMID:Salles 2017:29114839}" "" "p.Trp782*" "" "Unknown" "" "" "0" "" "" "g.94056638C>T" "" "pathogenic (recessive)" ""
"0000775696" "0" "50" "1" "94476388" "94476388" "subst" "0.215397" "01695" "ABCA4_000890" "g.94476388C>G" "" "{PMID:Cai 2018:29126757}" "" "c.5682G>C" "" "Unknown" "" "" "0" "" "" "g.94010832C>G" "" "VUS" ""
"0000775697" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cai 2018:29126757}" "" "c.5882G>A" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000775698" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cai 2018:29126757}" "" "c.5882G>A" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000775699" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cai 2018:29126757}" "" "c.5882G>A, c.5843C>T" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000775700" "0" "10" "1" "94473846" "94473846" "subst" "0.0315833" "01695" "ABCA4_000001" "g.94473846G>A" "" "{PMID:Cai 2018:29126757}" "" "c.5882G>A, c.5843C>T" "" "Unknown" "" "" "0" "" "" "g.94008290G>A" "" "benign" ""
"0000775701" "0" "90" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Light 2017:28099317}{PMID:Cai 2018:29126757}" "" "c.6320G>A" "" "Unknown" "" "" "0" "" "" "g.94001068C>T" "" "pathogenic (recessive)" ""
"0000775702" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Cai 2018:29126757}" "" "c.6079C>T" "" "Unknown" "" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic (recessive)" ""
"0000775703" "0" "90" "1" "94510253" "94510253" "subst" "0.000247694" "01695" "ABCA4_000108" "g.94510253A>G" "" "{PMID:Cai 2018:29126757}" "" "c.2966T>C" "" "Unknown" "" "" "0" "" "" "g.94044697A>G" "" "pathogenic (recessive)" ""
"0000775704" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Cai 2018:29126757}" "" "c.6079C>T" "" "Unknown" "" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic (recessive)" ""
"0000775705" "0" "90" "1" "94487468" "94487468" "del" "0" "01695" "ABCA4_000169" "g.94487468del" "" "{PMID:Abed 2018:29178665}" "" "Het NM_000350.2: c.4710delC" "" "Unknown" "" "" "0" "" "" "g.94021912del" "" "pathogenic (recessive)" ""
"0000775706" "0" "90" "1" "94485136" "94485136" "subst" "0" "01695" "ABCA4_000463" "g.94485136A>C" "" "{PMID:Abed 2018:29178665}" "" "Het NM_000350.2: c.5196+2T>G" "" "Unknown" "" "" "0" "" "" "g.94019580A>C" "" "pathogenic (recessive)" ""
"0000775707" "0" "90" "1" "94577046" "94577049" "dup" "0" "01695" "ABCA4_000227" "g.94577046_94577049dup" "" "{PMID:Abed 2018:29178665}" "" "Het NM_000350: c.247_250dupCAAA;" "" "Unknown" "" "" "0" "" "" "g.94111490_94111493dup" "" "pathogenic (recessive)" ""
"0000775708" "0" "70" "1" "94473807" "94473807" "subst" "0" "01695" "ABCA4_001279" "g.94473807C>G" "" "{PMID:Abed 2018:29178665}" "" "Het NM_000350.2: c.5882G>C;" "" "Unknown" "" "" "0" "" "" "g.94008251C>G" "" "likely pathogenic (recessive)" ""
"0000775709" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Abed 2018:29178665}" "" "Het NM_000350.2: c.3113C>T; c.1622T>C;" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000775710" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Abed 2018:29178665}" "" "Het NM_000350.2: c.3113C>T; c.1622T>C;" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000775711" "0" "50" "1" "94543278" "94543278" "subst" "0.000178952" "01695" "ABCA4_000004" "g.94543278G>A" "" "{PMID:Abed 2018:29178665}" "" "Het NM_000350.2: c.1522C>T;" "" "Unknown" "" "" "0" "" "" "g.94077722G>A" "" "VUS" ""
"0000775712" "0" "70" "1" "94473807" "94473807" "subst" "0" "01695" "ABCA4_001279" "g.94473807C>G" "" "{PMID:Abed 2018:29178665}" "" "Het NM_000350.2: c.5882G>C;" "" "Unknown" "" "" "0" "" "" "g.94008251C>G" "" "likely pathogenic (recessive)" ""
"0000775713" "0" "70" "1" "94520793" "94520793" "subst" "8.13292E-6" "01695" "ABCA4_000723" "g.94520793A>T" "" "{PMID:Abed 2018:29178665}" "" "Het NM_000350.2: c.2461T>A;" "" "Unknown" "" "" "0" "" "" "g.94055237A>T" "" "likely pathogenic (recessive)" ""
"0000775714" "0" "70" "1" "94520705" "94520705" "subst" "0" "01695" "ABCA4_000714" "g.94520705T>C" "" "{PMID:Abed 2018:29178665}" "" "Het NM_000350: c.2549A>G:p.Y850C" "" "Unknown" "" "" "0" "" "" "g.94055149T>C" "" "likely pathogenic (recessive)" ""
"0000775715" "0" "70" "1" "94502708" "94502708" "subst" "0" "01695" "ABCA4_001873" "g.94502708A>G" "" "{PMID:Abed 2018:29178665}" "" "Het NM_000350.2:ex25:c.3806T>C:p. L1269P" "" "Unknown" "" "" "0" "" "" "g.94037152A>G" "" "likely pathogenic (recessive)" ""
"0000775716" "0" "70" "1" "94473807" "94473807" "subst" "0" "01695" "ABCA4_001279" "g.94473807C>G" "" "{PMID:Abed 2018:29178665}" "" "Het NM_000350.2: c.5882G>C;" "" "Unknown" "" "" "0" "" "" "g.94008251C>G" "" "likely pathogenic (recessive)" ""
"0000775717" "0" "90" "1" "94510248" "94510248" "subst" "0.000544123" "01695" "ABCA4_000107" "g.94510248C>G" "" "{PMID:Abed 2018:29178665}" "" "Het NM_000350.2: c.2971G>C;" "" "Unknown" "" "" "0" "" "" "g.94044692C>G" "" "pathogenic (recessive)" ""
"0000775718" "0" "90" "1" "94495000" "94495000" "subst" "0" "01695" "ABCA4_000164" "g.94495000C>A" "" "{PMID:Abed 2018:29178665}" "" "Het NM_000350.2: c.4539+1G>T" "" "Unknown" "" "" "0" "" "" "g.94029444C>A" "" "pathogenic (recessive)" ""
"0000775719" "0" "90" "1" "94512626" "94512626" "del" "0" "01695" "ABCA4_001990" "g.94512626del" "" "{PMID:Abed 2018:29178665}" "" "Het NM_000350: c.2768_2768delC;" "" "Unknown" "" "" "0" "" "" "g.94047070del" "" "pathogenic (recessive)" ""
"0000775720" "0" "90" "1" "94486794" "94486794" "subst" "0" "01695" "ABCA4_000478" "g.94486794A>G" "" "{PMID:Abed 2018:29178665}" "" "Het NM_000350.2: c.5018+2T>C" "" "Unknown" "" "" "0" "" "" "g.94021238A>G" "" "pathogenic (recessive)" ""
"0000775721" "0" "70" "1" "94520705" "94520705" "subst" "0" "01695" "ABCA4_000714" "g.94520705T>C" "" "{PMID:Abed 2018:29178665}" "" "Het NM_000350.2: c.2549A>G;" "" "Unknown" "" "" "0" "" "" "g.94055149T>C" "" "likely pathogenic (recessive)" ""
"0000775722" "0" "70" "1" "94505599" "94505599" "subst" "0" "01695" "ABCA4_000152" "g.94505599C>T" "" "{PMID:Abed 2018:29178665}" "" "Het NM_000350.2: c.3607G>A;" "" "Unknown" "" "" "0" "" "" "g.94040043C>T" "" "likely pathogenic (recessive)" ""
"0000775723" "0" "70" "1" "94512518" "94512518" "subst" "1.62517E-5" "01695" "ABCA4_000687" "g.94512518T>C" "" "{PMID:Abed 2018:29178665}" "" "Het NM_000350.2: c.2875A>G;" "" "Unknown" "" "" "0" "" "" "g.94046962T>C" "" "likely pathogenic (recessive)" ""
"0000775724" "0" "70" "1" "94473807" "94473807" "subst" "0" "01695" "ABCA4_001279" "g.94473807C>G" "" "{PMID:Abed 2018:29178665}" "" "Het NM_000350.2: c.5882G>C;" "" "Unknown" "" "" "0" "" "" "g.94008251C>G" "" "likely pathogenic (recessive)" ""
"0000775725" "0" "70" "1" "94473807" "94473807" "subst" "0" "01695" "ABCA4_001279" "g.94473807C>G" "" "{PMID:Abed 2018:29178665}" "" "Het NM_000350.2: c.5882G>C;" "" "Unknown" "" "" "0" "" "" "g.94008251C>G" "" "likely pathogenic (recessive)" ""
"0000775726" "0" "90" "1" "94496605" "94496605" "subst" "0" "01695" "ABCA4_000570" "g.94496605G>T" "" "{PMID:Abed 2018:29178665}" "" "Het NM_000350.2: c.4200C>A;" "" "Unknown" "" "" "0" "" "" "g.94031049G>T" "" "pathogenic (recessive)" ""
"0000775727" "0" "90" "1" "94564549" "94564549" "subst" "0" "01695" "ABCA4_000199" "g.94564549T>A" "" "{PMID:Abed 2018:29178665}" "" "Het NM_000350.2: c.571-2A>T" "" "Unknown" "" "" "0" "" "" "g.94098993T>A" "" "pathogenic (recessive)" ""
"0000775728" "0" "70" "1" "94485247" "94485247" "subst" "4.07647E-5" "01695" "ABCA4_000475" "g.94485247C>T" "" "{PMID:Abed 2018:29178665}" "" "Het NM_000350.2: c.5087G>A;" "" "Unknown" "" "" "0" "" "" "g.94019691C>T" "" "likely pathogenic (recessive)" ""
"0000775729" "0" "70" "1" "94473807" "94473807" "subst" "0" "01695" "ABCA4_001279" "g.94473807C>G" "" "{PMID:Abed 2018:29178665}" "" "Het NM_000350.2: c.5882G>C;" "" "Unknown" "" "" "0" "" "" "g.94008251C>G" "" "likely pathogenic (recessive)" ""
"0000775730" "0" "90" "1" "94528132" "94528132" "subst" "4.06835E-6" "01695" "ABCA4_000773" "g.94528132C>T" "" "{PMID:Abed 2018:29178665}" "" "Het NM_000350.2: c.1937+1G>A" "" "Unknown" "" "" "0" "" "" "g.94062576C>T" "" "pathogenic (recessive)" ""
"0000775731" "0" "50" "1" "94485196" "94485196" "subst" "8.239E-6" "01695" "ABCA4_000469" "g.94485196T>C" "" "{PMID:Abed 2018:29178665}" "" "Het NM_000350.2: c.5138A>G;" "" "Unknown" "" "" "0" "" "" "g.94019640T>C" "" "VUS" ""
"0000775732" "0" "90" "1" "94577046" "94577049" "dup" "0" "01695" "ABCA4_000227" "g.94577046_94577049dup" "" "{PMID:Abed 2018:29178665}" "" "Het NM_000350: c.247_250dupCAAA;" "" "Unknown" "" "" "0" "" "" "g.94111490_94111493dup" "" "pathogenic (recessive)" ""
"0000775733" "0" "90" "1" "94577046" "94577049" "dup" "0" "01695" "ABCA4_000227" "g.94577046_94577049dup" "" "{PMID:Abed 2018:29178665}" "" "Het NM_000350: c.247_250dupCAAA;" "" "Unknown" "" "" "0" "" "" "g.94111490_94111493dup" "" "pathogenic (recessive)" ""
"0000775734" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Khan 2018:29310964}" "" "c.5461-10T>C" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000775735" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Khan 2018:29310964}" "" "c.768G>T, p.Val256Val;" "" "Unknown" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000775736" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Khan 2018:29310964}" "" "c.5461-10T>C" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000775737" "0" "90" "1" "94485173" "94485174" "del" "0" "01695" "ABCA4_000468" "g.94485173_94485174del" "" "{PMID:Khan 2018:29310964}" "" "c.5161_5162delAC" "" "Unknown" "" "" "0" "" "" "g.94019617_94019618del" "" "pathogenic (recessive)" ""
"0000775738" "0" "70" "1" "94471047" "94471047" "subst" "0" "01695" "ABCA4_001624" "g.94471047G>A" "" "{PMID:Khan 2018:29310964}" "" "c.6097C>T, p.Leu2027Phe" "" "Unknown" "" "" "0" "" "" "g.94005491G>A" "" "likely pathogenic (recessive)" ""
"0000775739" "0" "70" "1" "94495077" "94495077" "subst" "0" "01695" "ABCA4_000184" "g.94495077C>T" "" "{PMID:Khan 2018:29310964}" "" "c.4463G>A, p.Cys1488Arg" "" "Unknown" "" "" "0" "" "" "g.94029521C>T" "" "likely pathogenic (recessive)" ""
"0000775740" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Schroeder 2018:29386879}" "" "c.2564 G>Ac.3113 C>Tc.4506 C>T" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000775741" "0" "50" "1" "94495034" "94495034" "subst" "1.58698E-5" "01695" "ABCA4_000964" "g.94495034G>A" "" "{PMID:Schroeder 2018:29386879}" "" "c.2564 G>Ac.3113 C>Tc.4506 C>T" "" "Unknown" "" "" "0" "" "" "g.94029478G>A" "" "VUS" ""
"0000775742" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Schroeder 2018:29386879}" "" "c.1622 T>Cc.3113 C>Tc.5882 G>A" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000775743" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Schroeder 2018:29386879}" "" "c.1622 T>Cc.3113 C>Tc.5882 G>A" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000775744" "0" "90" "1" "94473278" "94473278" "del" "3.25908E-5" "01695" "ABCA4_000392" "g.94473278del" "" "{PMID:Schroeder 2018:29386879}" "" "c.5882 G>Ac.5917del" "" "Unknown" "" "" "0" "" "" "g.94007722del" "" "pathogenic (recessive)" ""
"0000775745" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Schroeder 2018:29386879}" "" "c.3113 C>Tc.768 G>T" "" "Unknown" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000775746" "0" "70" "1" "94528818" "94528818" "subst" "0.00205975" "01695" "ABCA4_001239" "g.94528818C>T" "" "{PMID:Schroeder 2018:29386879}" "" "c.768 G>Tc.1610 G>A" "" "Unknown" "" "" "0" "" "" "g.94063262C>T" "" "likely pathogenic (recessive)" ""
"0000775747" "0" "70" "1" "94476865" "94476865" "subst" "2.03107E-5" "01695" "ABCA4_000430" "g.94476865A>G" "" "{PMID:Schroeder 2018:29386879}" "" "c.2915 C>Ac.5537 T>C" "" "Unknown" "" "" "0" "" "" "g.94011309A>G" "" "likely pathogenic (recessive)" ""
"0000775748" "0" "50" "1" "94574258" "94574258" "subst" "0.00115728" "01695" "ABCA4_001132" "g.94574258T>A" "" "{PMID:Schroeder 2018:29386879}" "" "c.868 C>Tc.317 A>T" "" "Unknown" "" "" "0" "" "" "g.94108702T>A" "" "VUS" ""
"0000775749" "0" "90" "1" "94473278" "94473278" "del" "3.25908E-5" "01695" "ABCA4_000392" "g.94473278del" "" "{PMID:Schroeder 2018:29386879}" "" "c.5882 G>Ac.5917del" "" "Unknown" "" "" "0" "" "" "g.94007722del" "" "pathogenic (recessive)" ""
"0000775750" "0" "70" "1" "94496548" "94496548" "subst" "2.43787E-5" "01695" "ABCA4_000088" "g.94496548G>A" "" "{PMID:Schroeder 2018:29386879}" "" "c.2588 G>Cc.4253+4 C>T" "" "Unknown" "" "" "0" "" "" "g.94030992G>A" "" "likely pathogenic (recessive)" ""
"0000775751" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Schroeder 2018:29386879}" "" "c.1622 T>Cc.3113 C>Tc.1804 C>T" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000775752" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Schroeder 2018:29386879}" "" "c.1622 T>Cc.3113 C>Tc.1804 C>T" "" "Unknown" "" "" "0" "" "" "g.94062710G>A" "" "pathogenic (recessive)" ""
"0000775753" "0" "70" "1" "94496558" "94496560" "del" "0" "01695" "ABCA4_000561" "g.94496558_94496560del" "" "{PMID:Schroeder 2018:29386879}" "" "c.1933 G>Tc.4249_4 251del" "" "Unknown" "" "" "0" "" "" "g.94031002_94031004del" "" "likely pathogenic (recessive)" ""
"0000775754" "0" "90" "1" "94487401" "94487401" "subst" "4.06085E-6" "01695" "ABCA4_000995" "g.94487401C>T" "" "{PMID:Schroeder 2018:29386879}" "" "c.5882 G>Ac.4773+1 G>A" "" "Unknown" "" "" "0" "" "" "g.94021845C>T" "" "pathogenic (recessive)" ""
"0000775755" "0" "70" "1" "94528272" "94528272" "subst" "4.06984E-6" "01695" "ABCA4_000999" "g.94528272C>A" "" "{PMID:Schroeder 2018:29386879}" "" "c.286 A>Gc.1798 G>T" "" "Unknown" "" "" "0" "" "" "g.94062716C>A" "" "likely pathogenic (recessive)" ""
"0000775756" "0" "70" "1" "94471032" "94471032" "subst" "1.62553E-5" "01695" "ABCA4_000792" "g.94471032G>A" "" "{PMID:Schroeder 2018:29386879}" "" "c.768 G>Tc.6112 C>T" "" "Unknown" "" "" "0" "" "" "g.94005476G>A" "" "likely pathogenic (recessive)" ""
"0000775757" "0" "70" "1" "94496548" "94496548" "subst" "2.43787E-5" "01695" "ABCA4_000088" "g.94496548G>A" "" "{PMID:Schroeder 2018:29386879}" "" "c.2588 G>Cc.4253+4 C>T" "" "Unknown" "" "" "0" "" "" "g.94030992G>A" "" "likely pathogenic (recessive)" ""
"0000775758" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Schroeder 2018:29386879}" "" "c.634 C>Tc.5882 G>A" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000775759" "0" "70" "1" "94495177" "94495177" "subst" "1.22342E-5" "01695" "ABCA4_000023" "g.94495177A>G" "" "{PMID:Schroeder 2018:29386879}" "" "c.1654 G>Ac.4363 T>C" "" "Unknown" "" "" "0" "" "" "g.94029621A>G" "" "likely pathogenic (recessive)" ""
"0000775760" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Schroeder 2018:29386879}" "" "c.319 C>Tc.5461–10 T>C" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000775761" "0" "90" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Schroeder 2018:29386879}" "" "c.768 G>Tc.2894 A>G" "" "Unknown" "" "" "0" "" "" "g.94046943T>C" "" "pathogenic (recessive)" ""
"0000775762" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Schroeder 2018:29386879}" "" "c.1622 T>Cc.3113 C>Tc.1804 C>T" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000775763" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Schroeder 2018:29386879}" "" "c.1622 T>Cc.3113 C>Tc.1804 C>T" "" "Unknown" "" "" "0" "" "" "g.94062710G>A" "" "pathogenic (recessive)" ""
"0000775764" "0" "70" "1" "94586549" "94586549" "subst" "0" "01695" "ABCA4_001028" "g.94586549C>T" "" "{PMID:Schroeder 2018:29386879}" "" "c.4773+1 G>Ac.53 G>A" "" "Unknown" "" "" "0" "" "" "g.94120993C>T" "" "likely pathogenic (recessive)" ""
"0000775765" "0" "90" "1" "94488940" "94488940" "subst" "0" "01695" "ABCA4_000511" "g.94488940A>G" "" "{PMID:Schroeder 2018:29386879}" "" "c.2894 A>Gc.4667+ T>C" "" "Unknown" "" "" "0" "" "" "g.94023384A>G" "" "pathogenic (recessive)" ""
"0000775766" "0" "90" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Schroeder 2018:29386879}" "" "c.768 G>Tc.2894 A>G" "" "Unknown" "" "" "0" "" "" "g.94046943T>C" "" "pathogenic (recessive)" ""
"0000775767" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Schroeder 2018:29386879}" "" "c.1007 C>Gc.5714+ 5G>A" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000775768" "0" "70" "1" "94496548" "94496548" "subst" "2.43787E-5" "01695" "ABCA4_000088" "g.94496548G>A" "" "{PMID:Schroeder 2018:29386879}" "" "c.768 G>Tc.4253+ 4C>T" "" "Unknown" "" "" "0" "" "" "g.94030992G>A" "" "likely pathogenic (recessive)" ""
"0000775769" "0" "90" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Schroeder 2018:29386879}" "" "c.768 G>Tc.2894 A>G" "" "Unknown" "" "" "0" "" "" "g.94046943T>C" "" "pathogenic (recessive)" ""
"0000775770" "0" "90" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Essilfie 2018:29470301}" "" "p.Arg212Cys" "" "Unknown" "yes" "" "0" "" "" "g.94098928G>A" "" "pathogenic (recessive)" ""
"0000775771" "0" "50" "1" "94528774" "94528774" "subst" "0.00264827" "01695" "ABCA4_000298" "g.94528774C>T" "" "{PMID:Essilfie 2018:29470301}" "" "p.Val552Ile" "" "Unknown" "yes" "" "0" "" "" "g.94063218C>T" "" "VUS" ""
"0000775772" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Melillo 2018:29625472}" "" "p.Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000775773" "0" "50" "1" "94543308" "94543308" "subst" "2.43815E-5" "01695" "ABCA4_002118" "g.94543308C>T" "" "{PMID:Melillo 2018:29625472}" "" "p.Asp498Asn" "" "Unknown" "" "" "0" "" "" "g.94077752C>T" "" "VUS" ""
"0000775774" "0" "70" "1" "94497445" "94497446" "ins" "0" "01695" "ABCA4_001856" "g.94497445_94497446insN[24]" "" "{PMID:Melillo 2018:29625472}" "" "4017ins24bp" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000775775" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Melillo 2018:29625472}" "" "p.Leu541Pro/p.Ala1038Val" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000775776" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Melillo 2018:29625472}" "" "c.5714+5G>A" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000775777" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Melillo 2018:29625472}" "" "p.Leu541Pro/p.Ala1038Val" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000775778" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Melillo 2018:29625472}" "" "p.Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000775779" "0" "90" "1" "94466426" "94466426" "subst" "1.62433E-5" "01695" "ABCA4_000124" "g.94466426G>A" "" "{PMID:Melillo 2018:29625472}{PMID:Melillo 2020:32821503}" "" "p.Arg2149X" "" "Unknown" "" "" "0" "" "" "g.94000870G>A" "" "pathogenic (recessive)" ""
"0000775780" "0" "50" "1" "94485269" "94485269" "subst" "0" "01695" "ABCA4_000146" "g.94485269A>G" "" "{PMID:Melillo 2018:29625472}{PMID:Melillo 2020:32821503}" "" "p.Ser1689Pro" "" "Unknown" "" "" "0" "" "" "g.94019713A>G" "" "VUS" ""
"0000775781" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Melillo 2018:29625472}" "" "p.Leu541Pro/p.Ala1038Val" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000775782" "0" "50" "1" "94526289" "94526289" "subst" "0.000417202" "01695" "ABCA4_000767" "g.94526289A>C" "" "{PMID:Melillo 2018:29625472}" "" "p.Phe655Cys" "" "Unknown" "" "" "0" "" "" "g.94060733A>C" "" "VUS" ""
"0000775783" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Melillo 2018:29625472}" "" "p.Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000775784" "0" "70" "1" "94574173" "94574174" "ins" "0" "01695" "ABCA4_002210" "g.94574173_94574174insN[24]" "" "{PMID:Melillo 2018:29625472}" "" "402ins24bp" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000775785" "0" "90" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Melillo 2018:29625472}" "" "p.Arg2107His" "" "Unknown" "" "" "0" "" "" "g.94001068C>T" "" "pathogenic (recessive)" ""
"0000775786" "0" "70" "1" "94512547" "94512547" "subst" "0" "01695" "ABCA4_001987" "g.94512547A>C" "" "{PMID:Melillo 2018:29625472}" "" "p.Leu949Arg" "" "Unknown" "" "" "0" "" "" "g.94046991A>C" "" "likely pathogenic (recessive)" ""
"0000775787" "0" "90" "1" "94466426" "94466426" "subst" "1.62433E-5" "01695" "ABCA4_000124" "g.94466426G>A" "" "{PMID:Melillo 2018:29625472}{PMID:Melillo 2020:32821503}" "" "p.Arg2149X" "" "Unknown" "" "" "0" "" "" "g.94000870G>A" "" "pathogenic (recessive)" ""
"0000775788" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Melillo 2018:29625472}" "" "IVS40+5G>A" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000775789" "0" "90" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Melillo 2018:29625472}" "" "p.Arg2107His" "" "Unknown" "" "" "0" "" "" "g.94001068C>T" "" "pathogenic (recessive)" ""
"0000775790" "0" "70" "1" "94512547" "94512547" "subst" "0" "01695" "ABCA4_001987" "g.94512547A>C" "" "{PMID:Melillo 2018:29625472}" "" "p.Leu949Arg" "" "Unknown" "" "" "0" "" "" "g.94046991A>C" "" "likely pathogenic (recessive)" ""
"0000775791" "0" "90" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Melillo 2018:29625472}" "" "p.Arg2107His" "" "Unknown" "" "" "0" "" "" "g.94001068C>T" "" "pathogenic (recessive)" ""
"0000775792" "0" "70" "1" "94512547" "94512547" "subst" "0" "01695" "ABCA4_001987" "g.94512547A>C" "" "{PMID:Melillo 2018:29625472}" "" "p.Leu949Arg" "" "Unknown" "" "" "0" "" "" "g.94046991A>C" "" "likely pathogenic (recessive)" ""
"0000775793" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Melillo 2018:29625472}" "" "c.5714+5G>A" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000775812" "3" "90" "1" "94476355" "94488975" "dup" "0" "01695" "ABCA4_002760" "g.(94474428_94476355)_(94488975_94490509)dup" "" "{PMID:Falfoul 2018:29736279}" "" "[(?_-4635)_(5714+?)dup;(?_6148)_(6479_+?)del]" "duplication ex32-40, deletion ex45-47" "Germline" "yes" "" "0" "" "" "g.(94008872_94010799)_(94023419_94024953)dup" "" "pathogenic (recessive)" ""
"0000775819" "10" "90" "1" "94526212" "94526212" "subst" "1.22012E-5" "01695" "ABCA4_000075" "g.94526212G>A" "" "{PMID:Falfoul 2018:29736279}" "" "p. [R681*]" "" "Germline" "yes" "" "0" "" "" "g.94060656G>A" "" "pathogenic (recessive)" ""
"0000775820" "20" "70" "1" "94476355" "94488975" "dup" "0" "01695" "ABCA4_002760" "g.(94474428_94476355)_(94488975_94490509)dup" "" "{PMID:Falfoul 2018:29736279}" "" "[(?_-4635)_(5714+?)dup;(?_6148)_(6479_+?)del]" "duplication ex32-40, deletion ex45-47" "Germline" "yes" "" "0" "" "" "g.(94008872_94010799)_(94023419_94024953)dup" "" "pathogenic (recessive)" ""
"0000775821" "10" "90" "1" "94526212" "94526212" "subst" "1.22012E-5" "01695" "ABCA4_000075" "g.94526212G>A" "" "{PMID:Falfoul 2018:29736279}" "" "p. [R681*]" "" "Germline" "yes" "" "0" "" "" "g.94060656G>A" "" "pathogenic (recessive)" ""
"0000775822" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Garces 2018:29847635}" "" "c.5882G>A, p.(Gly1961Glu)12" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000775823" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Garces 2018:29847635}" "" "c.5882G>A, p.(Gly1961Glu)12" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000775824" "0" "50" "1" "94528774" "94528774" "subst" "0.00264827" "01695" "ABCA4_000298" "g.94528774C>T" "" "{PMID:Garces 2018:29847635}" "" "c.1654G>A, p.(Val552Ile)50" "" "Unknown" "" "" "0" "" "" "g.94063218C>T" "" "VUS" ""
"0000775825" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Garces 2018:29847635}" "" "[1622T>C;3113C>T] p.[Leu541Pro;Ala1038Val]20,36" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000775826" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Garces 2018:29847635}" "" "c.5714+5G>A, p.[¼,Glu1863Leufs*33]12,54" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000775827" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Garces 2018:29847635}" "" "c.6079C>T, p.(Leu2027Phe)55" "" "Unknown" "" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic (recessive)" ""
"0000775828" "0" "50" "1" "94544159" "94544159" "subst" "2.03079E-5" "01695" "ABCA4_000063" "g.94544159A>T" "" "{PMID:Garces 2018:29847635}" "" "c.1343T>A, p.(Met448Lys)57" "" "Unknown" "" "" "0" "" "" "g.94078603A>T" "" "VUS" ""
"0000775829" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Paavo 2018:29847651}" "" "p.P1380L" "" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000775830" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Paavo 2018:29847651}" "" "p.G1961E" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000775831" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Paavo 2018:29847651}" "" "p.[L541P;A1038V]" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000775832" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Paavo 2018:29847651}" "" "p.L2027F" "" "Unknown" "" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic (recessive)" ""
"0000775833" "0" "90" "1" "94496571" "94496571" "subst" "4.06174E-6" "01695" "ABCA4_000111" "g.94496571G>A" "" "{PMID:Paavo 2018:29847651}" "" "p.Q1412" "" "Unknown" "" "" "0" "" "" "g.94031015G>A" "" "pathogenic (recessive)" ""
"0000775834" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Paavo 2018:29847651}" "" "p.G1961E" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000775835" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Paavo 2018:29847651}" "" "p.N1868I" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000775836" "0" "70" "1" "94577010" "94577010" "subst" "1.22004E-5" "01695" "ABCA4_000224" "g.94577010T>C" "" "{PMID:Paavo 2018:29847651}" "" "p.N96D" "" "Unknown" "" "" "0" "" "" "g.94111454T>C" "" "likely pathogenic (recessive)" ""
"0000775837" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Paavo 2018:29847651}" "" "p.L541P" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000775838" "0" "70" "1" "94466423" "94466423" "subst" "0" "01695" "ABCA4_000818" "g.94466423A>G" "" "{PMID:Paavo 2018:29847651}" "" "p.C2150R" "" "Unknown" "" "" "0" "" "" "g.94000867A>G" "" "likely pathogenic (recessive)" ""
"0000775839" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Paavo 2018:29847651}" "" "p.G1961E" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000775840" "0" "90" "1" "94466628" "94466628" "subst" "0.000109748" "01695" "ABCA4_000094" "g.94466628G>A" "" "{PMID:Paavo 2018:29847651}" "" "p.R2106C" "" "Unknown" "" "" "0" "" "" "g.94001072G>A" "" "pathogenic (recessive)" ""
"0000775841" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Paavo 2018:29847651}" "" "p.N1868I" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000775842" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Paavo 2018:29847651}" "" "p.[L541P;A1038V]" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000775843" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Paavo 2018:29847651}" "" "p.[L541P;A1038V]" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000775844" "0" "50" "1" "94527129" "94527143" "del" "0" "01695" "ABCA4_001034" "g.94527129_94527143del" "" "{PMID:Paavo 2018:29847651}" "" "c.1938–822_1938–808del15" "" "Unknown" "" "" "0" "" "" "g.94061573_94061587del" "" "VUS" ""
"0000775845" "0" "90" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Paavo 2018:29847651}" "" "p.R2107H" "" "Unknown" "" "" "0" "" "" "g.94001068C>T" "" "pathogenic (recessive)" ""
"0000775846" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Paavo 2018:29847651}" "" "p.P1380L" "" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000775847" "0" "70" "1" "94577010" "94577010" "subst" "1.22004E-5" "01695" "ABCA4_000224" "g.94577010T>C" "" "{PMID:Paavo 2018:29847651}" "" "p.N96D" "" "Unknown" "" "" "0" "" "" "g.94111454T>C" "" "likely pathogenic (recessive)" ""
"0000775848" "0" "70" "1" "94466627" "94466627" "subst" "4.06408E-6" "01695" "ABCA4_000867" "g.94466627C>T" "" "{PMID:Paavo 2018:29847651}" "" "p.R2106H" "" "Unknown" "" "" "0" "" "" "g.94001071C>T" "" "likely pathogenic (recessive)" ""
"0000775849" "0" "70" "1" "94528226" "94528226" "subst" "0" "01695" "ABCA4_002077" "g.94528226A>G" "" "{PMID:Paavo 2018:29847651}" "" "p.V615A" "" "Unknown" "" "" "0" "" "" "g.94062670A>G" "" "likely pathogenic (recessive)" ""
"0000775850" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Paavo 2018:29847651}" "" "p.[L541P;A1038V]" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000775851" "0" "30" "1" "94563992" "94563992" "subst" "0" "01695" "ABCA4_000943" "g.94563992G>A" "" "{PMID:Paavo 2018:29847651}" "" "c.768+358C>T" "" "Unknown" "" "" "0" "" "" "g.94098436G>A" "" "likely benign" ""
"0000775852" "0" "70" "1" "94512470" "94512470" "subst" "0" "01695" "ABCA4_001974" "g.94512470C>T" "" "{PMID:Paavo 2018:29847651}" "" "c.2918+5G>A" "" "Unknown" "" "" "0" "" "" "g.94046914C>T" "" "likely pathogenic (recessive)" ""
"0000775853" "1" "70" "1" "94496509" "94496509" "subst" "0.00475243" "01695" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Zernant 2018:29848554}" "" "c.[4253+43G>A;6006-609T>A]" "" "Unknown" "" "" "0" "" "" "g.94030953C>T" "" "likely pathogenic (recessive)" ""
"0000775854" "1" "50" "1" "94471747" "94471747" "subst" "0" "01695" "ABCA4_000882" "g.94471747A>T" "" "{PMID:Zernant 2018:29848554}" "" "c.[4253+43G>A;6006-609T>A]" "" "Unknown" "" "" "0" "" "" "g.94006191A>T" "" "VUS" ""
"0000775855" "1" "70" "1" "94496509" "94496509" "subst" "0.00475243" "01695" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Zernant 2018:29848554}" "" "c.[4253+43G>A;6006-609T>A]" "" "Unknown" "" "" "0" "" "" "g.94030953C>T" "" "likely pathogenic (recessive)" ""
"0000775856" "1" "50" "1" "94471747" "94471747" "subst" "0" "01695" "ABCA4_000882" "g.94471747A>T" "" "{PMID:Zernant 2018:29848554}" "" "c.[4253+43G>A;6006-609T>A]" "" "Unknown" "" "" "0" "" "" "g.94006191A>T" "" "VUS" ""
"0000775857" "0" "70" "1" "94496509" "94496509" "subst" "0.00475243" "01695" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Zernant 2018:29848554}" "" "c.4253+43G>Aa" "" "Unknown" "" "" "0" "" "" "g.94030953C>T" "" "likely pathogenic (recessive)" ""
"0000775858" "0" "70" "1" "94496509" "94496509" "subst" "0.00475243" "01695" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Zernant 2018:29848554}" "" "c.4253+43G>Aa" "" "Unknown" "" "" "0" "" "" "g.94030953C>T" "" "likely pathogenic (recessive)" ""
"0000775859" "1" "70" "1" "94496509" "94496509" "subst" "0.00475243" "01695" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Zernant 2018:29848554}" "" "c.[4253+43G>A;6006-609T>A]" "" "Unknown" "" "" "0" "" "" "g.94030953C>T" "" "likely pathogenic (recessive)" ""
"0000775860" "1" "50" "1" "94471747" "94471747" "subst" "0" "01695" "ABCA4_000882" "g.94471747A>T" "" "{PMID:Zernant 2018:29848554}" "" "c.[4253+43G>A;6006-609T>A]" "" "Unknown" "" "" "0" "" "" "g.94006191A>T" "" "VUS" ""
"0000775861" "2" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Zernant 2018:29848554}" "" "c.[1622T>C;3113C>T] (p.[Leu541Pro;Ala1038Val])" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000775862" "1" "70" "1" "94496509" "94496509" "subst" "0.00475243" "01695" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Zernant 2018:29848554}" "" "c.[4253+43G>A;6006-609T>A]" "" "Unknown" "" "" "0" "" "" "g.94030953C>T" "" "likely pathogenic (recessive)" ""
"0000775863" "1" "50" "1" "94471747" "94471747" "subst" "0" "01695" "ABCA4_000882" "g.94471747A>T" "" "{PMID:Zernant 2018:29848554}" "" "c.[4253+43G>A;6006-609T>A]" "" "Unknown" "" "" "0" "" "" "g.94006191A>T" "" "VUS" ""
"0000775864" "0" "70" "1" "94496509" "94496509" "subst" "0.00475243" "01695" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Zernant 2018:29848554}" "" "c.4253+43G>Aa" "" "Unknown" "" "" "0" "" "" "g.94030953C>T" "" "likely pathogenic (recessive)" ""
"0000775865" "0" "70" "1" "94496509" "94496509" "subst" "0.00475243" "01695" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Zernant 2018:29848554}" "" "c.4253+43G>A" "" "Unknown" "" "" "0" "" "" "g.94030953C>T" "" "likely pathogenic (recessive)" ""
"0000775866" "0" "90" "1" "94526265" "94526265" "subst" "0" "01695" "ABCA4_000143" "g.94526265C>T" "" "{PMID:Zernant 2018:29848554}" "" "c.1988G>A (p.Trp663?)" "" "Unknown" "" "" "0" "" "" "g.94060709C>T" "" "pathogenic (recessive)" ""
"0000775867" "1" "50" "1" "94471747" "94471747" "subst" "0" "01695" "ABCA4_000882" "g.94471747A>T" "" "{PMID:Zernant 2018:29848554}" "" "c.[4253+43G>A;6006-609T>A]" "" "Unknown" "" "" "0" "" "" "g.94006191A>T" "" "VUS" ""
"0000775868" "1" "70" "1" "94496509" "94496509" "subst" "0.00475243" "01695" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Zernant 2018:29848554}" "" "c.[4253+43G>A;6006-609T>A]" "" "Unknown" "" "" "0" "" "" "g.94030953C>T" "" "likely pathogenic (recessive)" ""
"0000775869" "1" "50" "1" "94471747" "94471747" "subst" "0" "01695" "ABCA4_000882" "g.94471747A>T" "" "{PMID:Zernant 2018:29848554}" "" "c.[4253+43G>A;6006-609T>A]" "" "Unknown" "" "" "0" "" "" "g.94006191A>T" "" "VUS" ""
"0000775870" "1" "70" "1" "94496509" "94496509" "subst" "0.00475243" "01695" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Zernant 2018:29848554}" "" "c.[4253+43G>A;6006-609T>A]" "" "Unknown" "" "" "0" "" "" "g.94030953C>T" "" "likely pathogenic (recessive)" ""
"0000775871" "1" "50" "1" "94471747" "94471747" "subst" "0" "01695" "ABCA4_000882" "g.94471747A>T" "" "{PMID:Zernant 2018:29848554}" "" "c.[4253+43G>A;6006-609T>A]" "" "Unknown" "" "" "0" "" "" "g.94006191A>T" "" "VUS" ""
"0000775872" "0" "70" "1" "94496509" "94496509" "subst" "0.00475243" "01695" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Zernant 2018:29848554}" "" "c.4253+43G>Aa" "" "Unknown" "" "" "0" "" "" "g.94030953C>T" "" "likely pathogenic (recessive)" ""
"0000775873" "0" "70" "1" "94496509" "94496509" "subst" "0.00475243" "01695" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Zernant 2018:29848554}" "" "c.4253+43G>A" "" "Unknown" "" "" "0" "" "" "g.94030953C>T" "" "likely pathogenic (recessive)" ""
"0000775874" "0" "70" "1" "94496509" "94496509" "subst" "0.00475243" "01695" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Zernant 2018:29848554}" "" "c.4253+43G>Aa" "" "Unknown" "" "" "0" "" "" "g.94030953C>T" "" "likely pathogenic (recessive)" ""
"0000775875" "1" "70" "1" "94496509" "94496509" "subst" "0.00475243" "01695" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Zernant 2018:29848554}" "" "c.[4253+43G>A;6006-609T>A]" "" "Unknown" "" "" "0" "" "" "g.94030953C>T" "" "likely pathogenic (recessive)" ""
"0000775876" "1" "50" "1" "94471747" "94471747" "subst" "0" "01695" "ABCA4_000882" "g.94471747A>T" "" "{PMID:Zernant 2018:29848554}" "" "c.[4253+43G>A;6006-609T>A]" "" "Unknown" "" "" "0" "" "" "g.94006191A>T" "" "VUS" ""
"0000775877" "1" "70" "1" "94496509" "94496509" "subst" "0.00475243" "01695" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Zernant 2018:29848554}" "" "c.[4253+43G>A;6006-609T>A]" "" "Unknown" "" "" "0" "" "" "g.94030953C>T" "" "likely pathogenic (recessive)" ""
"0000775878" "1" "50" "1" "94471747" "94471747" "subst" "0" "01695" "ABCA4_000882" "g.94471747A>T" "" "{PMID:Zernant 2018:29848554}" "" "c.[4253+43G>A;6006-609T>A]" "" "Unknown" "" "" "0" "" "" "g.94006191A>T" "" "VUS" ""
"0000775879" "1" "70" "1" "94496509" "94496509" "subst" "0.00475243" "01695" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Zernant 2018:29848554}" "" "c.[4253+43G>A;6006-609T>A]" "" "Unknown" "" "" "0" "" "" "g.94030953C>T" "" "likely pathogenic (recessive)" ""
"0000775880" "1" "50" "1" "94471747" "94471747" "subst" "0" "01695" "ABCA4_000882" "g.94471747A>T" "" "{PMID:Zernant 2018:29848554}" "" "c.[4253+43G>A;6006-609T>A]" "" "Unknown" "" "" "0" "" "" "g.94006191A>T" "" "VUS" ""
"0000775881" "1" "70" "1" "94496509" "94496509" "subst" "0.00475243" "01695" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Zernant 2018:29848554}" "" "c.[4253+43G>A;6006-609T>A]" "" "Unknown" "" "" "0" "" "" "g.94030953C>T" "" "likely pathogenic (recessive)" ""
"0000775882" "1" "50" "1" "94471747" "94471747" "subst" "0" "01695" "ABCA4_000882" "g.94471747A>T" "" "{PMID:Zernant 2018:29848554}" "" "c.[4253+43G>A;6006-609T>A]" "" "Unknown" "" "" "0" "" "" "g.94006191A>T" "" "VUS" ""
"0000775883" "1" "70" "1" "94496509" "94496509" "subst" "0.00475243" "01695" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Zernant 2018:29848554}" "" "c.[4253+43G>A;6006-609T>A]" "" "Unknown" "" "" "0" "" "" "g.94030953C>T" "" "likely pathogenic (recessive)" ""
"0000775884" "1" "50" "1" "94471747" "94471747" "subst" "0" "01695" "ABCA4_000882" "g.94471747A>T" "" "{PMID:Zernant 2018:29848554}" "" "c.[4253+43G>A;6006-609T>A]" "" "Unknown" "" "" "0" "" "" "g.94006191A>T" "" "VUS" ""
"0000775885" "1" "70" "1" "94496509" "94496509" "subst" "0.00475243" "01695" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Zernant 2018:29848554}" "" "c.[4253+43G>A;6006-609T>A]" "" "Unknown" "" "" "0" "" "" "g.94030953C>T" "" "likely pathogenic (recessive)" ""
"0000775886" "1" "50" "1" "94471747" "94471747" "subst" "0" "01695" "ABCA4_000882" "g.94471747A>T" "" "{PMID:Zernant 2018:29848554}" "" "c.[4253+43G>A;6006-609T>A]" "" "Unknown" "" "" "0" "" "" "g.94006191A>T" "" "VUS" ""
"0000775887" "0" "70" "1" "94496509" "94496509" "subst" "0.00475243" "01695" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Zernant 2018:29848554}" "" "c.4253+43G>A" "" "Unknown" "" "" "0" "" "" "g.94030953C>T" "" "likely pathogenic (recessive)" ""
"0000775888" "0" "70" "1" "94496509" "94496509" "subst" "0.00475243" "01695" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Zernant 2018:29848554}" "" "c.4253+43G>A" "" "Unknown" "" "" "0" "" "" "g.94030953C>T" "" "likely pathogenic (recessive)" ""
"0000775889" "0" "70" "1" "94496509" "94496509" "subst" "0.00475243" "01695" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Zernant 2018:29848554}" "" "c.4253+43G>Aa" "" "Unknown" "" "" "0" "" "" "g.94030953C>T" "" "likely pathogenic (recessive)" ""
"0000775890" "0" "90" "1" "94526212" "94526212" "subst" "1.22012E-5" "01695" "ABCA4_000075" "g.94526212G>A" "" "{PMID:Zernant 2018:29848554}" "" "c.[70C>T(;)2041C>T] (p.[Arg24Cys(;)Arg681?])" "" "Unknown" "" "" "0" "" "" "g.94060656G>A" "" "pathogenic (recessive)" ""
"0000775891" "0" "70" "1" "94496509" "94496509" "subst" "0.00475243" "01695" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Zernant 2018:29848554}" "" "c.4253+43G>Aa" "" "Unknown" "" "" "0" "" "" "g.94030953C>T" "" "likely pathogenic (recessive)" ""
"0000775892" "0" "70" "1" "94481299" "94481299" "subst" "0" "01695" "ABCA4_001705" "g.94481299A>C" "" "{PMID:Zernant 2018:29848554}" "" "c.[4139C>T(;)5308T>G] (p.[Pro1380Leu(;)Tyr1770Asp])" "" "Unknown" "" "" "0" "" "" "g.94015743A>C" "" "likely pathogenic (recessive)" ""
"0000775893" "2" "70" "1" "94496509" "94496509" "subst" "0.00475243" "01695" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Zernant 2018:29848554}" "" "c.[4253+43G>A;6006-609T>A]" "" "Unknown" "" "" "0" "" "" "g.94030953C>T" "" "likely pathogenic (recessive)" ""
"0000775894" "2" "50" "1" "94471747" "94471747" "subst" "0" "01695" "ABCA4_000882" "g.94471747A>T" "" "{PMID:Zernant 2018:29848554}" "" "c.[4253+43G>A;6006-609T>A]" "" "Unknown" "" "" "0" "" "" "g.94006191A>T" "" "VUS" ""
"0000775895" "0" "70" "1" "94496509" "94496509" "subst" "0.00475243" "01695" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Zernant 2018:29848554}" "" "c.4253+43G>A" "" "Unknown" "" "" "0" "" "" "g.94030953C>T" "" "likely pathogenic (recessive)" ""
"0000775896" "1" "50" "1" "94471747" "94471747" "subst" "0" "01695" "ABCA4_000882" "g.94471747A>T" "" "{PMID:Zernant 2018:29848554}" "" "ND c.[4253+43G>A;6006-609T>A]" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94006191A>T" "" "VUS" ""
"0000775897" "0" "90" "1" "94484082" "94484082" "subst" "0" "01695" "ABCA4_000028" "g.94484082T>C" "" "{PMID:Zernant 2018:29848554}" "" "c.5196+1056A>G" "" "Unknown" "" "" "0" "" "" "g.94018526T>C" "" "pathogenic (recessive)" ""
"0000775898" "0" "90" "1" "94484082" "94484082" "subst" "0" "01695" "ABCA4_000028" "g.94484082T>C" "" "{PMID:Zernant 2018:29848554}" "" "c.5196+1056A>G" "" "Unknown" "" "" "0" "" "" "g.94018526T>C" "" "pathogenic (recessive)" ""
"0000775899" "0" "90" "1" "94484082" "94484082" "subst" "0" "01695" "ABCA4_000028" "g.94484082T>C" "" "{PMID:Zernant 2018:29848554}" "" "c.5196+1056A>G" "" "Unknown" "" "" "0" "" "" "g.94018526T>C" "" "pathogenic (recessive)" ""
"0000775900" "0" "90" "1" "94484082" "94484082" "subst" "0" "01695" "ABCA4_000028" "g.94484082T>C" "" "{PMID:Zernant 2018:29848554}" "" "c.5196+1056A>G" "" "Unknown" "" "" "0" "" "" "g.94018526T>C" "" "pathogenic (recessive)" ""
"0000775901" "0" "90" "1" "94484082" "94484082" "subst" "0" "01695" "ABCA4_000028" "g.94484082T>C" "" "{PMID:Zernant 2018:29848554}" "" "c.5196+1056A>G" "" "Unknown" "" "" "0" "" "" "g.94018526T>C" "" "pathogenic (recessive)" ""
"0000775902" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Smaragda 2018:29854428}" "" "c.5714+5G>A" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000775903" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Smaragda 2018:29854428}" "" "c.5714+5G>A" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000775904" "0" "50" "1" "94495980" "94495980" "subst" "0" "01695" "ABCA4_001821" "g.94495980T>G" "" "{PMID:Smaragda 2018:29854428}" "" "c.4352+4A>C" "" "Unknown" "" "" "0" "" "" "g.94030424T>G" "" "VUS" ""
"0000775905" "0" "70" "1" "94466434" "94466434" "subst" "0" "01695" "ABCA4_000821" "g.94466434C>T" "" "{PMID:Smaragda 2018:29854428}" "" "p.Gly2146Asp" "" "Unknown" "yes" "" "0" "" "" "g.94000878C>T" "" "likely pathogenic (recessive)" ""
"0000775906" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Smaragda 2018:29854428}" "" "p.Leu541Pro, p.Ala1038Val" "" "Unknown" "yes" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000775907" "0" "90" "1" "94495983" "94495983" "subst" "8.12348E-6" "01695" "ABCA4_000547" "g.94495983C>T" "" "{PMID:Smaragda 2018:29854428}" "" "c.4352+1G>A" "" "Unknown" "yes" "" "0" "" "" "g.94030427C>T" "" "pathogenic (recessive)" ""
"0000775908" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Smaragda 2018:29854428}" "" "p.Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000775909" "0" "90" "1" "94495990" "94495990" "subst" "0" "01695" "ABCA4_001460" "g.94495990C>T" "" "{PMID:Smaragda 2018:29854428}" "" "c.4346G>A p.Trp1449*" "" "Unknown" "" "" "0" "" "" "g.94030434C>T" "" "pathogenic (recessive)" ""
"0000775910" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Smaragda 2018:29854428}" "" "c.1622T>C, c.3113C>T p.Leu541Pro, p.Ala1038Val" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000775911" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Smaragda 2018:29854428}" "" "c.1622T>C, c.3113C>T p.Leu541Pro, p.Ala1038Val" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000775912" "0" "90" "1" "94574256" "94574256" "subst" "2.8425E-5" "01695" "ABCA4_000040" "g.94574256G>A" "" "{PMID:Smaragda 2018:29854428}" "" "c.319C>T p.Arg107*" "" "Unknown" "" "" "0" "" "" "g.94108700G>A" "" "pathogenic (recessive)" ""
"0000775913" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Smaragda 2018:29854428}" "" "c.1622T>C p.Leu541Pr?" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000775914" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Smaragda 2018:29854428}" "" "c.1622T>C, c.3113C>T p.Leu541Pro, p.Ala1038Val" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000775915" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Smaragda 2018:29854428}" "" "c.1622T>C, c.3113C>T p.Leu541Pro, p.Ala1038Val" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000775916" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Smaragda 2018:29854428}" "" "c.1622T>C, c.3113C>T p.Leu541Pro, p.Ala1038Val" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000775917" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Smaragda 2018:29854428}" "" "c.1622T>C, c.3113C>T p.Leu541Pro, p.Ala1038Val" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000775918" "0" "70" "1" "94574147" "94574147" "subst" "8.12236E-6" "01695" "ABCA4_000213" "g.94574147G>A" "" "{PMID:Smaragda 2018:29854428}" "" "c.428C>T p.Pro143Leu" "" "Unknown" "" "" "0" "" "" "g.94108591G>A" "" "likely pathogenic (recessive)" ""
"0000775919" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Smaragda 2018:29854428}" "" "c.1622T>C p.Leu541Pro" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000775920" "0" "90" "1" "94528251" "94528251" "subst" "2.84824E-5" "01695" "ABCA4_000281" "g.94528251C>T" "" "{PMID:Smaragda 2018:29854428}" "" "c.1819G>A p.Gly607Arg" "" "Unknown" "" "" "0" "" "" "g.94062695C>T" "" "pathogenic (recessive)" ""
"0000775921" "0" "70" "1" "94485247" "94485247" "subst" "4.07647E-5" "01695" "ABCA4_000475" "g.94485247C>T" "" "{PMID:Smaragda 2018:29854428}" "" "c.5087G>A p.Ser1696Asn" "" "Unknown" "" "" "0" "" "" "g.94019691C>T" "" "likely pathogenic (recessive)" ""
"0000775922" "0" "70" "1" "94495078" "94495078" "subst" "8.37044E-6" "01695" "ABCA4_000042" "g.94495078A>G" "" "{PMID:Smaragda 2018:29854428}" "" "c.4462T>C p.Cys1488Arg" "" "Unknown" "" "" "0" "" "" "g.94029522A>G" "" "likely pathogenic (recessive)" ""
"0000775923" "0" "70" "1" "94502702" "94502702" "subst" "0" "01695" "ABCA4_000595" "g.94502702T>C" "" "{PMID:Smaragda 2018:29854428}" "" "c.3812A>G p.Glu1271Gly" "" "Unknown" "" "" "0" "" "" "g.94037146T>C" "" "likely pathogenic (recessive)" ""
"0000775924" "0" "50" "1" "94546265" "94546265" "subst" "2.04063E-5" "01695" "ABCA4_000355" "g.94546265G>A" "" "{PMID:Smaragda 2018:29854428}" "" "c.868C>T p.Arg290Trp" "" "Unknown" "" "" "0" "" "" "g.94080709G>A" "" "VUS" ""
"0000775925" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Smaragda 2018:29854428}" "" "c.1622T>C p.Leu541Pro" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000775926" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Smaragda 2018:29854428}" "" "c.1622T>C p.Leu541Pro" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000775927" "0" "70" "1" "94471032" "94471032" "subst" "1.62553E-5" "01695" "ABCA4_000792" "g.94471032G>A" "" "{PMID:Smaragda 2018:29854428}" "" "c.6112C>T p.Arg2038Trp" "" "Unknown" "" "" "0" "" "" "g.94005476G>A" "" "likely pathogenic (recessive)" ""
"0000775928" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Smaragda 2018:29854428}" "" "c.3322C>T p.?rg1108Cys" "" "Unknown" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000775929" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Smaragda 2018:29854428}" "" "c.1622T>C, c.3113C>T p.Leu541Pr?," "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000775930" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Smaragda 2018:29854428}" "" "c.1622T>C, c.3113C>T p.Leu541Pr?," "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000775931" "0" "90" "1" "94476355" "94476355" "subst" "0" "01695" "ABCA4_001665" "g.94476355C>G" "" "{PMID:Smaragda 2018:29854428}" "" "c.5714+1G>C -" "" "Unknown" "" "" "0" "" "" "g.94010799C>G" "" "pathogenic (recessive)" ""
"0000775932" "0" "90" "1" "94508386" "94508386" "subst" "1.62443E-5" "01695" "ABCA4_000642" "g.94508386C>T" "" "{PMID:Smaragda 2018:29854428}" "" "c.3259G>A p.Glu1087Lys" "" "Unknown" "" "" "0" "" "" "g.94042830C>T" "" "pathogenic (recessive)" ""
"0000775933" "0" "90" "1" "94506945" "94506945" "del" "0" "01695" "ABCA4_001516" "g.94506945del" "" "{PMID:Smaragda 2018:29854428}" "" "c.3342delC p.Met1115Cysfs*33" "" "Unknown" "" "" "0" "" "" "g.94041389del" "" "pathogenic (recessive)" ""
"0000775934" "0" "90" "1" "94473278" "94473278" "del" "3.25908E-5" "01695" "ABCA4_000392" "g.94473278del" "" "{PMID:Smaragda 2018:29854428}" "" "c.5917delG p.Val1973*" "" "Unknown" "" "" "0" "" "" "g.94007722del" "" "pathogenic (recessive)" ""
"0000775935" "0" "90" "1" "94528251" "94528251" "subst" "2.84824E-5" "01695" "ABCA4_000281" "g.94528251C>T" "" "{PMID:Smaragda 2018:29854428}" "" "c.1819G>A p.Gly607Arg" "" "Unknown" "" "" "0" "" "" "g.94062695C>T" "" "pathogenic (recessive)" ""
"0000775936" "0" "90" "1" "94496571" "94496571" "subst" "4.06174E-6" "01695" "ABCA4_000111" "g.94496571G>A" "" "{PMID:Smaragda 2018:29854428}" "" "c.4234C>T p.Gln1412*" "" "Unknown" "" "" "0" "" "" "g.94031015G>A" "" "pathogenic (recessive)" ""
"0000775937" "3" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Smaragda 2018:29854428}" "" "c.1622T>C, c.3113C>T p.Leu541Pro, p.Ala1038Val" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000775938" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Smaragda 2018:29854428}" "" "c.1622T>C, c.3113C>T p.Leu541Pro, p.Ala1038Val" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000775939" "0" "90" "1" "94495983" "94495983" "subst" "8.12348E-6" "01695" "ABCA4_000547" "g.94495983C>T" "" "{PMID:Smaragda 2018:29854428}" "" "c.4352+1G>A ?" "" "Unknown" "" "" "0" "" "" "g.94030427C>T" "" "pathogenic (recessive)" ""
"0000775940" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Smaragda 2018:29854428}" "" "c.3322C>T p.Arg1108Cys" "" "Unknown" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000775941" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Smaragda 2018:29854428}" "" "c. 1622T>C, c.3113 C>T p.Leu541Pro, p.Ala1038Val" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000775942" "0" "90" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Smaragda 2018:29854428}" "" "0 p.Arg212Cys" "" "Unknown" "" "" "0" "" "" "g.94098928G>A" "" "pathogenic (recessive)" ""
"0000775943" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Smaragda 2018:29854428}" "" "c. 1622T>C, c.3113 C>T p.Leu541Pro, p.Ala1038Val" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000775944" "0" "50" "1" "94528137" "94528137" "subst" "2.03363E-5" "01695" "ABCA4_000774" "g.94528137C>T" "" "{PMID:Smaragda 2018:29854428}" "" "c.1933G>A p.Asp645Asn" "" "Unknown" "" "" "0" "" "" "g.94062581C>T" "" "VUS" ""
"0000775945" "0" "90" "1" "94586566" "94586566" "subst" "0" "01695" "ABCA4_002250" "g.94586566C>T" "" "{PMID:Smaragda 2018:29854428}" "" "c.36G>A p.W12*" "" "Unknown" "" "" "0" "" "" "g.94121010C>T" "" "pathogenic (recessive)" ""
"0000775946" "0" "70" "1" "94508322" "94508322" "subst" "0" "01695" "ABCA4_001920" "g.94508322C>A" "" "{PMID:Smaragda 2018:29854428}" "" "c.3323G>T p.Arg1108Leu" "" "Unknown" "" "" "0" "" "" "g.94042766C>A" "" "likely pathogenic (recessive)" ""
"0000775947" "0" "70" "1" "94486939" "94486939" "subst" "0" "01695" "ABCA4_001211" "g.94486939A>T" "" "{PMID:Smaragda 2018:29854428}" "" "c.4875T>A p.His1625Gln" "" "Unknown" "" "" "0" "" "" "g.94021383A>T" "" "likely pathogenic (recessive)" ""
"0000775948" "0" "90" "1" "94528251" "94528251" "subst" "2.84824E-5" "01695" "ABCA4_000281" "g.94528251C>T" "" "{PMID:Smaragda 2018:29854428}" "" "c.1819G>A p.Gly607Arg" "" "Unknown" "" "" "0" "" "" "g.94062695C>T" "" "pathogenic (recessive)" ""
"0000775949" "0" "50" "1" "94487404" "94487404" "subst" "0.00244055" "01695" "ABCA4_000497" "g.94487404C>T" "" "{PMID:Smaragda 2018:29854428}" "" "c.4771G>A p.Gly1591Arg" "" "Unknown" "" "" "0" "" "" "g.94021848C>T" "" "VUS" ""
"0000775950" "0" "90" "1" "94517216" "94517216" "subst" "0" "01695" "ABCA4_001429" "g.94517216G>A" "" "{PMID:Smaragda 2018:29854428}" "" "c.2626C>T p.Gln876*" "" "Unknown" "" "" "0" "" "" "g.94051660G>A" "" "pathogenic (recessive)" ""
"0000775951" "0" "70" "1" "94471067" "94471067" "subst" "4.06237E-6" "01695" "ABCA4_001001" "g.94471067A>G" "" "{PMID:Smaragda 2018:29854428}" "" "c.6077T>C p.Leu2026Pro" "" "Unknown" "" "" "0" "" "" "g.94005511A>G" "" "likely pathogenic (recessive)" ""
"0000775952" "0" "70" "1" "94502906" "94502906" "subst" "0.000314086" "01695" "ABCA4_000605" "g.94502906C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.3608G>A,p.Gly1203Glu" "" "Unknown" "" "" "0" "" "" "g.94037350C>T" "" "likely pathogenic (recessive)" ""
"0000775953" "0" "70" "1" "94480095" "94480095" "subst" "0" "01695" "ABCA4_001691" "g.94480095T>C" "" "{PMID:Fujinami 2019:29925512}" "" "c.5460+4A>G, splicesite alteration c.5461-10T>C, splicesite alteration" "" "Unknown" "" "" "0" "" "" "g.94014539T>C" "" "likely pathogenic (recessive)" ""
"0000775954" "0" "10" "1" "94505604" "94505604" "subst" "0.00645586" "01695" "ABCA4_000092" "g.94505604A>C" "" "{PMID:Fujinami 2019:29925512}" "" "c.3602T>G,p.Leu1201Arg" "" "Unknown" "" "" "0" "" "" "g.94040048A>C" "" "benign" ""
"0000775955" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.5882G>A,p.Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000775956" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.5882G>A,p.Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000775957" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.5882G>A,p.Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000775958" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.5714+5G>A, splicesite alteration" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000775959" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.5882G>A,p.Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000775960" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.4139C>T,p.Pro1380Leu" "" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000775961" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.5882G>A,p.Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000775962" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Fujinami 2019:29925512}" "" "c.5461-10T>C, splicesite alteration" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000775963" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.5882G>A,p.Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000775964" "0" "70" "1" "94495008" "94495008" "subst" "0" "01695" "ABCA4_001802" "g.94495008G>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.4532C>A,p.Pro1511His" "" "Unknown" "" "" "0" "" "" "g.94029452G>T" "" "likely pathogenic (recessive)" ""
"0000775965" "0" "90" "1" "94508386" "94508386" "subst" "1.62443E-5" "01695" "ABCA4_000642" "g.94508386C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.3259G>A,p.Glu1087Lys" "" "Unknown" "" "" "0" "" "" "g.94042830C>T" "" "pathogenic (recessive)" ""
"0000775966" "0" "90" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.6320G>A,p.Arg2107His" "" "Unknown" "" "" "0" "" "" "g.94001068C>T" "" "pathogenic (recessive)" ""
"0000775967" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.6079C>T,p.Leu2027Phe" "" "Unknown" "" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic (recessive)" ""
"0000775968" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.5882G>A,p.Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000775969" "0" "90" "1" "94480222" "94480222" "subst" "0" "01695" "ABCA4_000441" "g.94480222G>C" "" "{PMID:Fujinami 2019:29925512}" "" "c.5337C>G,p.Tyr1779Ter" "" "Unknown" "" "" "0" "" "" "g.94014666G>C" "" "pathogenic (recessive)" ""
"0000775970" "0" "70" "1" "94466422" "94466422" "subst" "2.43651E-5" "01695" "ABCA4_000817" "g.94466422C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.6449G>A,p.Cys2150Tyr" "" "Unknown" "" "" "0" "" "" "g.94000866C>T" "" "likely pathogenic (recessive)" ""
"0000775971" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Fujinami 2019:29925512}" "" "c.2588G>C,p.Gly863Ala" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000775972" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.6079C>T,p.Leu2027Phe" "" "Unknown" "" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic (recessive)" ""
"0000775973" "0" "90" "1" "94510253" "94510253" "subst" "0.000247694" "01695" "ABCA4_000108" "g.94510253A>G" "" "{PMID:Fujinami 2019:29925512}" "" "c.2966T>C, p.Val989Ala" "" "Unknown" "" "" "0" "" "" "g.94044697A>G" "" "pathogenic (recessive)" ""
"0000775974" "0" "90" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.6320G>A,p.Arg2107His" "" "Unknown" "" "" "0" "" "" "g.94001068C>T" "" "pathogenic (recessive)" ""
"0000775975" "0" "90" "1" "94508435" "94508436" "dup" "0" "01695" "ABCA4_000998" "g.94508435_94508436dup" "" "{PMID:Fujinami 2019:29925512}" "" "c.3210_3211insGT,p.Ser1071CysfsTer14" "" "Unknown" "" "" "0" "" "" "g.94042879_94042880dup" "" "pathogenic (recessive)" ""
"0000775976" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.6079C>T,p.Leu2027Phe" "" "Unknown" "" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic (recessive)" ""
"0000775977" "0" "50" "1" "94467548" "94467548" "subst" "0.00295661" "01695" "ABCA4_000788" "g.94467548C>G" "" "{PMID:Fujinami 2019:29925512}" "" "c.6148G>C,p.Val2050Leu" "" "Unknown" "" "" "0" "" "" "g.94001992C>G" "" "VUS" ""
"0000775978" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Fujinami 2019:29925512}" "" "c.1622T>C,p.Leu541Pro" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000775979" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.3113C>T,p.Ala1038Val" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000775980" "0" "90" "1" "94486791" "94486791" "subst" "0" "01695" "ABCA4_001253" "g.94486791C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.5018+5G>A, splicesite alteration" "" "Unknown" "" "" "0" "" "" "g.94021235C>T" "" "pathogenic (recessive)" ""
"0000775981" "0" "70" "1" "94508358" "94508358" "subst" "4.06167E-6" "01695" "ABCA4_000636" "g.94508358G>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.3287C>T,p.Ser1096Leu" "" "Unknown" "" "" "0" "" "" "g.94042802G>A" "" "likely pathogenic (recessive)" ""
"0000775982" "0" "10" "1" "94505604" "94505604" "subst" "0.00645586" "01695" "ABCA4_000092" "g.94505604A>C" "" "{PMID:Fujinami 2019:29925512}" "" "c.3602T>G,p.Leu1201Arg" "" "Unknown" "" "" "0" "" "" "g.94040048A>C" "" "benign" ""
"0000775983" "0" "90" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.6320G>A,p.Arg2107His" "" "Unknown" "" "" "0" "" "" "g.94001068C>T" "" "pathogenic (recessive)" ""
"0000775984" "0" "90" "1" "94473189" "94473189" "subst" "0" "01695" "ABCA4_000385" "g.94473189C>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.6005+1G>T, splicesite alteration" "" "Unknown" "" "" "0" "" "" "g.94007633C>A" "" "pathogenic (recessive)" ""
"0000775985" "0" "90" "1" "94520872" "94520872" "subst" "0" "01695" "ABCA4_001468" "g.94520872C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.2383-1G>A, splicesite alteration" "" "Unknown" "" "" "0" "" "" "g.94055316C>T" "" "pathogenic (recessive)" ""
"0000775986" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.4139C>T,p.Pro1380Leu" "" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000775987" "0" "50" "1" "94487300" "94487300" "subst" "0.00130332" "01695" "ABCA4_001759" "g.94487300C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.4774-30G>A, deepintron" "" "Unknown" "" "" "0" "" "" "g.94021744C>T" "" "VUS" ""
"0000775988" "0" "90" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.6320G>A,p.Arg2107His" "" "Unknown" "" "" "0" "" "" "g.94001068C>T" "" "pathogenic (recessive)" ""
"0000775989" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Fujinami 2019:29925512}" "" "c.5461-10T>C, splicesite alteration" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000775990" "0" "70" "1" "94463399" "94463413" "del" "0" "01695" "ABCA4_000851" "g.94463399_94463413del" "" "{PMID:Fujinami 2019:29925512}" "" "c.6729+5_19delGTTGGCCCTGGGGCA, splicesite alteration" "" "Unknown" "" "" "0" "" "" "g.93997843_93997857del" "" "likely pathogenic (recessive)" ""
"0000775991" "0" "70" "1" "94517233" "94517233" "subst" "4.06161E-6" "01695" "ABCA4_000706" "g.94517233G>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.2609C>T,p.Pro870Leu" "" "Unknown" "" "" "0" "" "" "g.94051677G>A" "" "likely pathogenic (recessive)" ""
"0000775992" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Fujinami 2019:29925512}" "" "c.2588G>C,p.Gly863Ala" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000775993" "0" "70" "1" "94490550" "94490550" "subst" "0.000105588" "01695" "ABCA4_000523" "g.94490550C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.4594G>A,p.Asp1532Asn" "" "Unknown" "" "" "0" "" "" "g.94024994C>T" "" "likely pathogenic (recessive)" ""
"0000775994" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.4139C>T,p.Pro1380Leu" "" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000775995" "0" "70" "1" "94487251" "94487251" "subst" "2.85679E-5" "01695" "ABCA4_000490" "g.94487251G>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.4793C>A,p.Ala1598Asp" "" "Unknown" "" "" "0" "" "" "g.94021695G>T" "" "likely pathogenic (recessive)" ""
"0000775996" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.5882G>A,p.Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000775997" "0" "70" "1" "94481296" "94481296" "subst" "4.07329E-6" "01695" "ABCA4_001532" "g.94481296C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.5311G>A,p.Gly1771Arg" "" "Unknown" "" "" "0" "" "" "g.94015740C>T" "" "likely pathogenic (recessive)" ""
"0000775998" "0" "50" "1" "94476804" "94476804" "subst" "1.22034E-5" "01695" "ABCA4_001676" "g.94476804C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.5584+14G>A, deepintron" "" "Unknown" "" "" "0" "" "" "g.94011248C>T" "" "VUS" ""
"0000775999" "0" "90" "1" "94510248" "94510248" "subst" "0.000544123" "01695" "ABCA4_000107" "g.94510248C>G" "" "{PMID:Fujinami 2019:29925512}" "" "c.2971G>C,p.Gly991Arg" "" "Unknown" "" "" "0" "" "" "g.94044692C>G" "" "pathogenic (recessive)" ""
"0000776000" "0" "10" "1" "94497563" "94497563" "subst" "0.00492504" "01695" "ABCA4_000090" "g.94497563C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.3899G>A,p.Arg1300Gln" "" "Unknown" "" "" "0" "" "" "g.94032007C>T" "" "benign" ""
"0000776001" "0" "50" "1" "94485278" "94485278" "subst" "0.000487317" "01695" "ABCA4_000101" "g.94485278C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.5056G>A,p.Val1686Met" "" "Unknown" "" "" "0" "" "" "g.94019722C>T" "" "VUS" ""
"0000776002" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Fujinami 2019:29925512}" "" "c.5461-10T>C, splicesite alteration" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000776003" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.5882G>A,p.Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000776004" "0" "90" "1" "94509026" "94509026" "subst" "4.06497E-5" "01695" "ABCA4_000660" "g.94509026G>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.3056C>T,p.Thr1019Met" "" "Unknown" "" "" "0" "" "" "g.94043470G>A" "" "pathogenic (recessive)" ""
"0000776005" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.3113C>T,p.Ala1038Val" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000776006" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Fujinami 2019:29925512}" "" "c.1622T>C,p.Leu541Pro" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000776007" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.3113C>T,p.Ala1038Val" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000776008" "0" "90" "1" "94485137" "94485137" "subst" "0" "01695" "ABCA4_000464" "g.94485137C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.5196+1G>A, splicesite alteration" "" "Unknown" "" "" "0" "" "" "g.94019581C>T" "" "pathogenic (recessive)" ""
"0000776009" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Fujinami 2019:29925512}" "" "c.5461-10T>C, splicesite alteration" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000776010" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.3113C>T,p.Ala1038Val" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000776011" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Fujinami 2019:29925512}" "" "c.5461-10T>C, splicesite alteration" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000776012" "0" "70" "1" "94528143" "94528143" "subst" "0.00124448" "01695" "ABCA4_000076" "g.94528143C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.1927G>A,p.Val643Met" "" "Unknown" "" "" "0" "" "" "g.94062587C>T" "" "likely pathogenic (recessive)" ""
"0000776013" "0" "90" "1" "94510235" "94510242" "del" "0" "01695" "ABCA4_000667" "g.94510235_94510242del" "" "{PMID:Fujinami 2019:29925512}" "" "c.2977_2984delGACATTGA,p.Asp993AsnfsTer27" "" "Unknown" "" "" "0" "" "" "g.94044679_94044686del" "" "pathogenic (recessive)" ""
"0000776014" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.4139C>T,p.Pro1380Leu" "" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000776015" "0" "90" "1" "94466625" "94466625" "subst" "1.62559E-5" "01695" "ABCA4_000839" "g.94466625G>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.6319C>T,p.Arg2107Cys" "" "Unknown" "yes" "" "0" "" "" "g.94001069G>A" "" "pathogenic (recessive)" ""
"0000776016" "0" "50" "1" "94474302" "94474302" "subst" "0" "01695" "ABCA4_001651" "g.94474302C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.5835+5G>A, splicesite alteration" "" "Unknown" "" "" "0" "" "" "g.94008746C>T" "" "VUS" ""
"0000776017" "0" "90" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.6320G>A,p.Arg2107His" "" "Unknown" "" "" "0" "" "" "g.94001068C>T" "" "pathogenic (recessive)" ""
"0000776018" "0" "70" "1" "94473259" "94473259" "subst" "0" "01695" "ABCA4_001045" "g.94473259G>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.5936C>T,p.Thr1979Ile" "" "Unknown" "" "" "0" "" "" "g.94007703G>A" "" "likely pathogenic (recessive)" ""
"0000776019" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.3113C>T,p.Ala1038Val" "" "Unknown" "yes" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000776020" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.4139C>T,p.Pro1380Leu ?" "" "Unknown" "yes" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000776021" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.3113C>T,p.Ala1038Val" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000776022" "0" "90" "1" "94463453" "94463453" "del" "0" "01695" "ABCA4_001565" "g.94463453del" "" "{PMID:Fujinami 2019:29925512}" "" "c.6693delC,p.Ile2231MetfsTer16" "" "Unknown" "" "" "0" "" "" "g.93997897del" "" "pathogenic (recessive)" ""
"0000776023" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.5714+5G>A, splicesite alteration" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000776024" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.5882G>A,p.Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000776025" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.4139C>T,p.Pro1380Leu" "" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000776026" "0" "50" "1" "94485157" "94485157" "subst" "0" "01695" "ABCA4_000466" "g.94485157G>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.5177C>A,p.Thr1726Asn ?" "" "Unknown" "" "" "0" "" "" "g.94019601G>T" "" "VUS" ""
"0000776027" "0" "90" "1" "94466556" "94466556" "subst" "4.06164E-6" "01695" "ABCA4_000831" "g.94466556G>C" "" "{PMID:Fujinami 2019:29925512}" "" "c.6386+2C>G, splicesite alteration" "" "Unknown" "" "" "0" "" "" "g.94001000G>C" "" "pathogenic (recessive)" ""
"0000776028" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.6079C>T,p.Leu2027Phe" "" "Unknown" "" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic (recessive)" ""
"0000776029" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.5882G>A,p.Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000776030" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.5882G>A,p.Gly1961Glu" "" "Unknown" "yes" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000776031" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.6079C>T,p.Leu2027Phe" "" "Unknown" "" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic (recessive)" ""
"0000776032" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Fujinami 2019:29925512}" "" "c.5461-10T>C, splicesite alteration" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000776033" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.5882G>A,p.Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000776034" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.5882G>A,p.Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000776035" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.3386G>T,p.Arg1129Leu" "" "Unknown" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000776036" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.5603A>T,p.Asn1868Ile" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000776037" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.5882G>A,p.Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000776038" "0" "90" "1" "94508353" "94508353" "subst" "2.8431E-5" "01695" "ABCA4_000141" "g.94508353G>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.3292C>T,p.Arg1098Cys" "" "Unknown" "" "" "0" "" "" "g.94042797G>A" "" "pathogenic (recessive)" ""
"0000776039" "0" "90" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.6320G>A,p.Arg2107His" "" "Unknown" "" "" "0" "" "" "g.94001068C>T" "" "pathogenic (recessive)" ""
"0000776040" "0" "50" "1" "94467548" "94467548" "subst" "0.00295661" "01695" "ABCA4_000788" "g.94467548C>G" "" "{PMID:Fujinami 2019:29925512}" "" "c.6148G>C,p.Val2050Leu" "" "Unknown" "" "" "0" "" "" "g.94001992C>G" "" "VUS" ""
"0000776041" "0" "90" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.6320G>A,p.Arg2107His" "" "Unknown" "" "" "0" "" "" "g.94001068C>T" "" "pathogenic (recessive)" ""
"0000776042" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.5882G>A,p.Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000776043" "0" "70" "1" "94473266" "94473266" "subst" "8.14677E-6" "01695" "ABCA4_000389" "g.94473266C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.5929G>A,p.Gly1977Ser" "" "Unknown" "" "" "0" "" "" "g.94007710C>T" "" "likely pathogenic (recessive)" ""
"0000776044" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.5603A>T,p.Asn1868Ile" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000776045" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.5603A>T,p.Asn1868Ile" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000776046" "0" "10" "1" "94467407" "94467407" "subst" "0.0756573" "01695" "ABCA4_000846" "g.94467407C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.6282+7G>A, possiblesplice site alteration" "" "Unknown" "" "" "0" "" "" "g.94001851C>T" "" "benign" ""
"0000776047" "0" "90" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.6320G>A,p.Arg2107His" "" "Unknown" "" "" "0" "" "" "g.94001068C>T" "" "pathogenic (recessive)" ""
"0000776048" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.5882G>A,p.Gly1961Glu" "" "Unknown" "yes" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000776049" "0" "70" "1" "94496583" "94496583" "subst" "2.03092E-5" "01695" "ABCA4_000190" "g.94496583A>G" "" "{PMID:Fujinami 2019:29925512}" "" "c.4222T>C,p.Trp1408Arg" "" "Unknown" "" "" "0" "" "" "g.94031027A>G" "" "likely pathogenic (recessive)" ""
"0000776050" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Fujinami 2019:29925512}" "" "c.2588G>C,p.Gly863Ala" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000776051" "0" "70" "1" "94471055" "94471055" "subst" "0.00035346" "01695" "ABCA4_000029" "g.94471055C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.6089G>A,p.Arg2030Gln" "" "Unknown" "" "" "0" "" "" "g.94005499C>T" "" "likely pathogenic (recessive)" ""
"0000776052" "0" "90" "1" "94508353" "94508353" "subst" "2.8431E-5" "01695" "ABCA4_000141" "g.94508353G>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.3292C>T,p.Arg1098Cys" "" "Unknown" "" "" "0" "" "" "g.94042797G>A" "" "pathogenic (recessive)" ""
"0000776053" "0" "70" "1" "94486896" "94486896" "subst" "3.65562E-5" "01695" "ABCA4_000085" "g.94486896G>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.4918C>T,p.Arg1640Trp" "" "Unknown" "" "" "0" "" "" "g.94021340G>A" "" "likely pathogenic (recessive)" ""
"0000776054" "3" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.5603A>T,p.Asn1868Ile" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000776055" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.6079C>T,p.Leu2027Phe" "" "Unknown" "yes" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic (recessive)" ""
"0000776056" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.5882G>A,p.Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000776057" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.3113C>T,p.Ala1038Val" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000776058" "0" "70" "1" "94490567" "94490567" "subst" "5.68528E-5" "01695" "ABCA4_000026" "g.94490567G>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.4577C>T,p.Thr1526Met" "" "Unknown" "" "" "0" "" "" "g.94025011G>A" "" "likely pathogenic (recessive)" ""
"0000776059" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.4139C>T,p.Pro1380Leu" "" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000776060" "0" "90" "1" "94467515" "94467518" "del" "0" "01695" "ABCA4_001380" "g.94467515_94467518del" "" "{PMID:Fujinami 2019:29925512}" "" "c.6181_6184delACTG,p.Thr2061SerfsTer53" "" "Unknown" "" "" "0" "" "" "g.94001959_94001962del" "" "pathogenic (recessive)" ""
"0000776061" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.5714+5G>A, splicesite alteration" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000776062" "0" "90" "1" "94466426" "94466426" "subst" "1.62433E-5" "01695" "ABCA4_000124" "g.94466426G>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.6445C>T,p.Arg2149Ter" "" "Unknown" "" "" "0" "" "" "g.94000870G>A" "" "pathogenic (recessive)" ""
"0000776063" "0" "90" "1" "94528251" "94528251" "subst" "2.84824E-5" "01695" "ABCA4_000281" "g.94528251C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.1819G>A,p.Gly607Arg" "" "Unknown" "" "" "0" "" "" "g.94062695C>T" "" "pathogenic (recessive)" ""
"0000776064" "0" "30" "1" "94461754" "94461754" "subst" "0.0642229" "01695" "ABCA4_000951" "g.94461754A>G" "" "{PMID:Fujinami 2019:29925512}" "" "c.6730-3T>C, splice sitealteration" "" "Unknown" "" "" "0" "" "" "g.93996198A>G" "" "likely benign" ""
"0000776065" "0" "10" "1" "94461717" "94461717" "subst" "0.0703199" "01695" "ABCA4_000003" "g.94461717C>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.6764G>T,p.Ser2255Ile" "" "Unknown" "" "" "0" "" "" "g.93996161C>A" "" "benign" ""
"0000776066" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.5882G>A,p.Gly1961Glu" "" "Unknown" "yes" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000776067" "0" "30" "1" "94461754" "94461754" "subst" "0.0642229" "01695" "ABCA4_000951" "g.94461754A>G" "" "{PMID:Fujinami 2019:29925512}" "" "c.6730-3T>C, splice sitealteration" "" "Unknown" "" "" "0" "" "" "g.93996198A>G" "" "likely benign" ""
"0000776068" "0" "10" "1" "94461717" "94461717" "subst" "0.0703199" "01695" "ABCA4_000003" "g.94461717C>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.6764G>T,p.Ser2255Ile" "" "Unknown" "" "" "0" "" "" "g.93996161C>A" "" "benign" ""
"0000776069" "0" "50" "1" "94512580" "94512580" "subst" "2.8431E-5" "01695" "ABCA4_000695" "g.94512580A>G" "" "{PMID:Fujinami 2019:29925512}" "" "c.2813T>C,p.Phe938Ser" "" "Unknown" "" "" "0" "" "" "g.94047024A>G" "" "VUS" ""
"0000776070" "0" "70" "1" "94473266" "94473266" "subst" "8.14677E-6" "01695" "ABCA4_000389" "g.94473266C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.5929G>A,p.Gly1977Ser" "" "Unknown" "" "" "0" "" "" "g.94007710C>T" "" "likely pathogenic (recessive)" ""
"0000776071" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.5882G>A,p.Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000776072" "0" "70" "1" "94467446" "94467446" "subst" "1.21856E-5" "01695" "ABCA4_001594" "g.94467446C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.6250G>A,p.Ala2084Thr" "" "Unknown" "" "" "0" "" "" "g.94001890C>T" "" "likely pathogenic (recessive)" ""
"0000776073" "0" "90" "1" "94485137" "94485137" "subst" "0" "01695" "ABCA4_000464" "g.94485137C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.5196+1G>A, splicesite alteration" "" "Unknown" "" "" "0" "" "" "g.94019581C>T" "" "pathogenic (recessive)" ""
"0000776074" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.5882G>A,p.Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000776075" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.3322C>T,p.Arg1108Cys" "" "Unknown" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000776076" "0" "70" "1" "94485279" "94485293" "del" "0" "01695" "ABCA4_000476" "g.94485279_94485293del" "" "{PMID:Fujinami 2019:29925512}" "" "c.5041_5055delGTGGTTGCCATCTGC,p.Val1681_Cys1685del" "" "Unknown" "" "" "0" "" "" "g.94019723_94019737del" "" "likely pathogenic (recessive)" ""
"0000776077" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Fujinami 2019:29925512}" "" "c.2588G>C,p.Gly863Ala" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000776078" "0" "50" "1" "94473287" "94473287" "subst" "0.00293818" "01695" "ABCA4_000395" "g.94473287G>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.5908C>T,p.Leu1970Phe" "" "Unknown" "" "" "0" "" "" "g.94007731G>A" "" "VUS" ""
"0000776079" "0" "50" "1" "94496008" "94496008" "subst" "2.03056E-5" "01695" "ABCA4_000148" "g.94496008C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.4328G>A,p.Arg1443His" "" "Unknown" "" "" "0" "" "" "g.94030452C>T" "" "VUS" ""
"0000776080" "0" "70" "1" "94485279" "94485293" "del" "0" "01695" "ABCA4_000476" "g.94485279_94485293del" "" "{PMID:Fujinami 2019:29925512}" "" "c.5041_5055delGTGGTTGCCATCTGC,p.Val1681_Cys1685del" "" "Unknown" "" "" "0" "" "" "g.94019723_94019737del" "" "likely pathogenic (recessive)" ""
"0000776081" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.4139C>T,p.Pro1380Leu" "" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000776082" "0" "70" "1" "94467487" "94467487" "subst" "0" "01695" "ABCA4_000783" "g.94467487G>C" "" "{PMID:Fujinami 2019:29925512}" "" "c.6209C>G,p.Thr2070Arg" "" "Unknown" "" "" "0" "" "" "g.94001931G>C" "" "likely pathogenic (recessive)" ""
"0000776083" "0" "90" "1" "94508435" "94508436" "dup" "0" "01695" "ABCA4_000998" "g.94508435_94508436dup" "" "{PMID:Fujinami 2019:29925512}" "" "c.3210_3211insGT,p.Ser1071CysfsTer14" "" "Unknown" "" "" "0" "" "" "g.94042879_94042880dup" "" "pathogenic (recessive)" ""
"0000776084" "0" "10" "1" "94463617" "94463617" "subst" "0.0109114" "01695" "ABCA4_000013" "g.94463617C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.6529G>A,p.Asp2177Asn" "" "Unknown" "" "" "0" "" "" "g.93998061C>T" "" "benign" ""
"0000776085" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Fujinami 2019:29925512}" "" "c.5461-10T>C, splicesite alteration" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000776086" "0" "70" "1" "94495177" "94495177" "subst" "1.22342E-5" "01695" "ABCA4_000023" "g.94495177A>G" "" "{PMID:Fujinami 2019:29925512}" "" "c.4363T>C,p.Cys1455Arg" "" "Unknown" "" "" "0" "" "" "g.94029621A>G" "" "likely pathogenic (recessive)" ""
"0000776087" "0" "50" "1" "94476886" "94476886" "subst" "4.06227E-6" "01695" "ABCA4_000433" "g.94476886A>G" "" "{PMID:Fujinami 2019:29925512}" "" "c.5516T>C,p.Phe1839Ser" "" "Unknown" "" "" "0" "" "" "g.94011330A>G" "" "VUS" ""
"0000776088" "0" "50" "1" "94467548" "94467548" "subst" "0.00295661" "01695" "ABCA4_000788" "g.94467548C>G" "" "{PMID:Fujinami 2019:29925512}" "" "c.6148G>C,p.Val2050Leu" "" "Unknown" "" "" "0" "" "" "g.94001992C>G" "" "VUS" ""
"0000776089" "0" "70" "1" "94506923" "94506923" "subst" "2.43657E-5" "01695" "ABCA4_000012" "g.94506923C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.3364G>A,p.Glu1122Lys" "" "Unknown" "" "" "0" "" "" "g.94041367C>T" "" "likely pathogenic (recessive)" ""
"0000776090" "0" "90" "1" "94471056" "94471056" "subst" "2.84398E-5" "01695" "ABCA4_000050" "g.94471056G>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.6088C>T,p.Arg2030Ter" "" "Unknown" "" "" "0" "" "" "g.94005500G>A" "" "pathogenic (recessive)" ""
"0000776091" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.4139C>T,p.Pro1380Leu" "" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000776092" "0" "90" "1" "94471056" "94471056" "subst" "2.84398E-5" "01695" "ABCA4_000050" "g.94471056G>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.6088C>T,p.Arg2030Ter" "" "Unknown" "" "" "0" "" "" "g.94005500G>A" "" "pathogenic (recessive)" ""
"0000776093" "0" "90" "1" "94485173" "94485174" "del" "0" "01695" "ABCA4_000468" "g.94485173_94485174del" "" "{PMID:Fujinami 2019:29925512}" "" "c.5161_5162delAC,p.Thr1721TfsTer65" "" "Unknown" "" "" "0" "" "" "g.94019617_94019618del" "" "pathogenic (recessive)" ""
"0000776094" "0" "70" "1" "94471055" "94471055" "subst" "0.00035346" "01695" "ABCA4_000029" "g.94471055C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.6089G>A,p.Arg2030Gln" "" "Unknown" "" "" "0" "" "" "g.94005499C>T" "" "likely pathogenic (recessive)" ""
"0000776095" "0" "70" "1" "94471055" "94471055" "subst" "0.00035346" "01695" "ABCA4_000029" "g.94471055C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.6089G>A,p.Arg2030Gln" "" "Unknown" "" "" "0" "" "" "g.94005499C>T" "" "likely pathogenic (recessive)" ""
"0000776096" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.5882G>A,p.Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000776097" "3" "70" "1" "94486896" "94486896" "subst" "3.65562E-5" "01695" "ABCA4_000085" "g.94486896G>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.4918C>T,p.Arg1640Trp c.4918C>T,p.Arg1640Trp" "" "Unknown" "" "" "0" "" "" "g.94021340G>A" "" "likely pathogenic (recessive)" ""
"0000776098" "0" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.4469G>A,p.Cys1490Tyr" "" "Unknown" "" "" "0" "" "" "g.94029515C>T" "" "likely pathogenic (recessive)" ""
"0000776099" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.6079C>T,p.Leu2027Phe" "" "Unknown" "" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic (recessive)" ""
"0000776100" "0" "90" "1" "94471026" "94471026" "subst" "1.21925E-5" "01695" "ABCA4_000791" "g.94471026G>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.6118C>T,p.Arg2040Ter" "" "Unknown" "" "" "0" "" "" "g.94005470G>A" "" "pathogenic (recessive)" ""
"0000776101" "0" "70" "1" "94490550" "94490550" "subst" "0.000105588" "01695" "ABCA4_000523" "g.94490550C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.4594G>A,p.Asp1532Asn" "" "Unknown" "" "" "0" "" "" "g.94024994C>T" "" "likely pathogenic (recessive)" ""
"0000776102" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Fujinami 2019:29925512}" "" "c.2588G>C,p.Gly863Ala" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000776103" "0" "70" "1" "94543269" "94543269" "subst" "0.000179087" "01695" "ABCA4_000307" "g.94543269G>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.1531C>T,p.Arg511Cys" "" "Unknown" "" "" "0" "" "" "g.94077713G>A" "" "likely pathogenic (recessive)" ""
"0000776104" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.5882G>A,p.Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000776105" "0" "70" "1" "94481391" "94481393" "dup" "0" "01695" "ABCA4_001714" "g.94481391_94481393dup" "" "{PMID:Fujinami 2019:29925512}" "" "c.5216_5218dupGCT,p.Ala1739dup" "" "Unknown" "" "" "0" "" "" "g.94015835_94015837dup" "" "likely pathogenic (recessive)" ""
"0000776106" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.5882G>A,p.Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000776107" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Fujinami 2019:29925512}" "" "c.2588G>C,p.Gly863Ala" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000776108" "0" "70" "1" "94490550" "94490550" "subst" "0.000105588" "01695" "ABCA4_000523" "g.94490550C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.4594G>A,p.Asp1532Asn c.5693G>A,p.Arg1898His" "" "Unknown" "" "" "0" "" "" "g.94024994C>T" "" "likely pathogenic (recessive)" ""
"0000776109" "0" "50" "1" "94476377" "94476377" "subst" "0.00160473" "01695" "ABCA4_000411" "g.94476377C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.4594G>A,p.Asp1532Asn c.5693G>A,p.Arg1898His" "" "Unknown" "" "" "0" "" "" "g.94010821C>T" "" "VUS" ""
"0000776110" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Fujinami 2019:29925512}" "" "c.5461-10T>C, splicesite alteration" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000776111" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Fujinami 2019:29925512}" "" "c.2588G>C,p.Gly863Ala" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000776112" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Fujinami 2019:29925512}" "" "c.5461-10T>C, splicesite alteration" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000776113" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Fujinami 2019:29925512}" "" "c.2588G>C,p.Gly863Ala" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000776114" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.6079C>T,p.Leu2027Phe" "" "Unknown" "" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic (recessive)" ""
"0000776115" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.5882G>A,p.Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000776116" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.6079C>T,p.Leu2027Phe" "" "Unknown" "" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic (recessive)" ""
"0000776117" "0" "90" "1" "94520690" "94520690" "subst" "2.03102E-5" "01695" "ABCA4_000149" "g.94520690C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.2564G>A,p.Trp855Ter" "" "Unknown" "" "" "0" "" "" "g.94055134C>T" "" "pathogenic (recessive)" ""
"0000776118" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.5882G>A,p.Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000776119" "0" "90" "1" "94458800" "94458800" "subst" "0" "01695" "ABCA4_001557" "g.94458800T>G" "" "{PMID:Fujinami 2019:29925512}" "" "c.6817-2A>C, splice sitealteration" "" "Unknown" "" "" "0" "" "" "g.93993244T>G" "" "pathogenic (recessive)" ""
"0000776120" "0" "70" "1" "94520732" "94520732" "subst" "0" "01695" "ABCA4_000973" "g.94520732T>G" "" "{PMID:Fujinami 2019:29925512}" "" "c.2522A>C,p.Gln841Pro" "" "Unknown" "" "" "0" "" "" "g.94055176T>G" "" "likely pathogenic (recessive)" ""
"0000776121" "0" "90" "1" "94466658" "94466658" "subst" "8.14817E-6" "01695" "ABCA4_000132" "g.94466658C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.6286G>A,p.Glu2096Lys" "" "Unknown" "" "" "0" "" "" "g.94001102C>T" "" "pathogenic (recessive)" ""
"0000776122" "0" "50" "1" "94502756" "94502756" "subst" "0.000422575" "01695" "ABCA4_000032" "g.94502756G>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.3758C>T,p.Thr1253Met" "" "Unknown" "" "" "0" "" "" "g.94037200G>A" "" "VUS" ""
"0000776123" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.5882G>A,p.Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000776124" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Fujinami 2019:29925512}" "" "c.5461-10T>C, splicesite alteration" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000776125" "0" "70" "1" "94463399" "94463413" "del" "0" "01695" "ABCA4_000851" "g.94463399_94463413del" "" "{PMID:Fujinami 2019:29925512}" "" "c.6729+5_19delGTTGGCCCTGGGGCA, splicesite alteration" "" "Unknown" "" "" "0" "" "" "g.93997843_93997857del" "" "likely pathogenic (recessive)" ""
"0000776126" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.5882G>A,p.Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000776127" "0" "90" "1" "94528164" "94528164" "subst" "2.03336E-5" "01695" "ABCA4_000267" "g.94528164G>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.1906C>T, p.Gln636Ter" "" "Unknown" "yes" "" "0" "" "" "g.94062608G>A" "" "pathogenic (recessive)" ""
"0000776128" "0" "50" "1" "94476824" "94476824" "subst" "8.12889E-6" "01695" "ABCA4_000428" "g.94476824G>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.5578C>T,p.Arg1860Trp" "" "Unknown" "" "" "0" "" "" "g.94011268G>A" "" "VUS" ""
"0000776129" "0" "70" "1" "94471055" "94471055" "subst" "0.00035346" "01695" "ABCA4_000029" "g.94471055C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.6089G>A,p.Arg2030Gln" "" "Unknown" "" "" "0" "" "" "g.94005499C>T" "" "likely pathogenic (recessive)" ""
"0000776130" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.4139C>T,p.Pro1380Leu" "" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000776131" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.4139C>T,p.Pro1380Leu" "" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000776132" "0" "90" "1" "94471056" "94471056" "subst" "2.84398E-5" "01695" "ABCA4_000050" "g.94471056G>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.6088C>T,p.Arg2030Ter" "" "Unknown" "" "" "0" "" "" "g.94005500G>A" "" "pathogenic (recessive)" ""
"0000776133" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.6079C>T,p.Leu2027Phe" "" "Unknown" "" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic (recessive)" ""
"0000776134" "0" "90" "1" "94458800" "94458800" "subst" "0" "01695" "ABCA4_001557" "g.94458800T>G" "" "{PMID:Fujinami 2019:29925512}" "" "c.6817-2A>C, splice sitealteration" "" "Unknown" "" "" "0" "" "" "g.93993244T>G" "" "pathogenic (recessive)" ""
"0000776135" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Fujinami 2019:29925512}" "" "c.5461-10T>C, splicesite alteration" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000776136" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Fujinami 2019:29925512}" "" "c.5461-10T>C, splicesite alteration" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000776137" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.5882G>A,p.Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000776138" "0" "70" "1" "94496509" "94496509" "subst" "0.00475243" "01695" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.4253+43G>A, deepintron" "" "Unknown" "" "" "0" "" "" "g.94030953C>T" "" "likely pathogenic (recessive)" ""
"0000776139" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.5882G>A,p.Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000776140" "0" "70" "1" "94490567" "94490567" "subst" "5.68528E-5" "01695" "ABCA4_000026" "g.94490567G>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.4577C>T,p.Thr1526Met" "" "Unknown" "" "" "0" "" "" "g.94025011G>A" "" "likely pathogenic (recessive)" ""
"0000776141" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.5882G>A,p.Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000776142" "0" "50" "1" "94485157" "94485157" "subst" "0" "01695" "ABCA4_000466" "g.94485157G>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.5177C>A,p.Thr1726Asn" "" "Unknown" "" "" "0" "" "" "g.94019601G>T" "" "VUS" ""
"0000776143" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Fujinami 2019:29925512}" "" "c.2588G>C,p.Gly863Ala" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000776144" "0" "70" "1" "94484001" "94484001" "subst" "0" "01695" "ABCA4_000016" "g.94484001C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.5196+1137G>A, deepintron" "" "Unknown" "" "" "0" "" "" "g.94018445C>T" "" "likely pathogenic (recessive)" ""
"0000776145" "0" "70" "1" "94463399" "94463413" "del" "0" "01695" "ABCA4_000851" "g.94463399_94463413del" "" "{PMID:Fujinami 2019:29925512}" "" "c.6729+5_19delGTTGGCCCTGGGGCA, splicesite alteration" "" "Unknown" "yes" "" "0" "" "" "g.93997843_93997857del" "" "likely pathogenic (recessive)" ""
"0000776146" "0" "50" "1" "94563997" "94563997" "subst" "0" "01695" "ABCA4_002169" "g.94563997A>G" "" "{PMID:Fujinami 2019:29925512}" "" "c.768+353T>C, deepintron" "" "Unknown" "" "" "0" "" "" "g.94098441A>G" "" "VUS" ""
"0000776147" "0" "70" "1" "94528671" "94528671" "subst" "0" "01695" "ABCA4_001409" "g.94528671T>C" "" "{PMID:Fujinami 2019:29925512}" "" "c.1757A>G,p.Asp586Gly" "" "Unknown" "" "" "0" "" "" "g.94063115T>C" "" "likely pathogenic (recessive)" ""
"0000776148" "0" "50" "1" "94488897" "94488897" "subst" "0.000158904" "01695" "ABCA4_001771" "g.94488897A>G" "" "{PMID:Fujinami 2019:29925512}" "" "c.4667+45T>C, deepintron" "" "Unknown" "" "" "0" "" "" "g.94023341A>G" "" "VUS" ""
"0000776149" "0" "70" "1" "94467487" "94467487" "subst" "0" "01695" "ABCA4_000783" "g.94467487G>C" "" "{PMID:Fujinami 2019:29925512}" "" "c.6209C>G,p.Thr2070Arg" "" "Unknown" "" "" "0" "" "" "g.94001931G>C" "" "likely pathogenic (recessive)" ""
"0000776150" "0" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.4469G>A,p.Cys1490Tyr" "" "Unknown" "" "" "0" "" "" "g.94029515C>T" "" "likely pathogenic (recessive)" ""
"0000776151" "0" "90" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.6320G>A,p.Arg2107His" "" "Unknown" "" "" "0" "" "" "g.94001068C>T" "" "pathogenic (recessive)" ""
"0000776152" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.5882G>A,p.Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000776153" "0" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.4469G>A,p.Cys1490Tyr" "" "Unknown" "" "" "0" "" "" "g.94029515C>T" "" "likely pathogenic (recessive)" ""
"0000776154" "0" "50" "1" "94487490" "94487490" "subst" "0.00122268" "01695" "ABCA4_000506" "g.94487490A>G" "" "{PMID:Fujinami 2019:29925512}" "" "c.4685T>C,p.Ile1562Thr" "" "Unknown" "" "" "0" "" "" "g.94021934A>G" "" "VUS" ""
"0000776155" "0" "70" "1" "94487251" "94487251" "subst" "2.85679E-5" "01695" "ABCA4_000490" "g.94487251G>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.4793C>A,p.Ala1598Asp" "" "Unknown" "yes" "" "0" "" "" "g.94021695G>T" "" "likely pathogenic (recessive)" ""
"0000776156" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.5882G>A,p.Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000776157" "0" "90" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Fujinami 2019:29925512}" "" "c.2894A>G,p.Asn965Ser" "" "Unknown" "" "" "0" "" "" "g.94046943T>C" "" "pathogenic (recessive)" ""
"0000776158" "0" "70" "1" "94506958" "94506958" "subst" "0" "01695" "ABCA4_001911" "g.94506958C>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.3329G>T,p.Gly1110Val" "" "Unknown" "" "" "0" "" "" "g.94041402C>A" "" "likely pathogenic (recessive)" ""
"0000776159" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.3113C>T,p.Ala1038Val" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000776160" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.3322C>T,p.Arg1108Cys" "" "Unknown" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000776161" "0" "90" "1" "94508435" "94508436" "dup" "0" "01695" "ABCA4_000998" "g.94508435_94508436dup" "" "{PMID:Fujinami 2019:29925512}" "" "c.3210_3211insGT,p.Ser1071CysfsTer14" "" "Unknown" "" "" "0" "" "" "g.94042879_94042880dup" "" "pathogenic (recessive)" ""
"0000776162" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.5882G>A,p.Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000776163" "0" "50" "1" "94473287" "94473287" "subst" "0.00293818" "01695" "ABCA4_000395" "g.94473287G>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.5908C>T,p.Leu1970Phe" "" "Unknown" "" "" "0" "" "" "g.94007731G>A" "" "VUS" ""
"0000776164" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.5882G>A,p.Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000776165" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.6079C>T,p.Leu2027Phe" "" "Unknown" "" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic (recessive)" ""
"0000776166" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.3113C>T,p.Ala1038Val" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000776167" "0" "70" "1" "94473259" "94473259" "subst" "0" "01695" "ABCA4_001045" "g.94473259G>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.5936C>T,p.Thr1979Ile" "" "Unknown" "" "" "0" "" "" "g.94007703G>A" "" "likely pathogenic (recessive)" ""
"0000776168" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.5714+5G>A, splicesite alteration" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000776169" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Fujinami 2019:29925512}" "" "c.2588G>C,p.Gly863Ala" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000776170" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Fujinami 2019:29925512}" "" "c.2588G>C,p.Gly863Ala" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000776171" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.5882G>A,p.Gly1961Glu" "" "Unknown" "yes" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000776172" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.3113C>T,p.Ala1038Val" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000776173" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.5882G>A,p.Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000776174" "0" "90" "1" "94488956" "94488956" "subst" "0" "01695" "ABCA4_000515" "g.94488956C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.4653G>A,p.Trp1551Ter" "" "Unknown" "" "" "0" "" "" "g.94023400C>T" "" "pathogenic (recessive)" ""
"0000776175" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Fujinami 2019:29925512}" "" "c.2588G>C,p.Gly863Ala" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000776176" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.3113C>T,p.Ala1038Val" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000776177" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.5882G>A,p.Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000776178" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.5882G>A,p.Gly1961Glu" "" "Unknown" "yes" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000776179" "0" "70" "1" "94473259" "94473259" "subst" "0" "01695" "ABCA4_001045" "g.94473259G>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.5936C>T,p.Thr1979Ile" "" "Unknown" "" "" "0" "" "" "g.94007703G>A" "" "likely pathogenic (recessive)" ""
"0000776180" "0" "90" "1" "94481294" "94481294" "subst" "0" "01695" "ABCA4_000110" "g.94481294C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.5312+1G>A, splicesite alteration" "" "Unknown" "" "" "0" "" "" "g.94015738C>T" "" "pathogenic (recessive)" ""
"0000776181" "0" "70" "1" "94471055" "94471055" "subst" "0.00035346" "01695" "ABCA4_000029" "g.94471055C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.6089G>A,p.Arg2030Gln" "" "Unknown" "" "" "0" "" "" "g.94005499C>T" "" "likely pathogenic (recessive)" ""
"0000776182" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.5882G>A,p.Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000776183" "0" "50" "1" "94487436" "94487436" "subst" "2.03047E-5" "01695" "ABCA4_000498" "g.94487436A>G" "" "{PMID:Fujinami 2019:29925512}" "" "c.4739T>C, Leu1580Ser" "" "Unknown" "" "" "0" "" "" "g.94021880A>G" "" "VUS" ""
"0000776184" "0" "90" "1" "94476882" "94476882" "subst" "0" "01695" "ABCA4_001686" "g.94476882G>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.5520C>A,p.Cys1840Ter" "" "Unknown" "" "" "0" "" "" "g.94011326G>T" "" "pathogenic (recessive)" ""
"0000776185" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.3113C>T,p.Ala1038Val" "" "Unknown" "yes" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000776186" "0" "70" "1" "94476812" "94476812" "subst" "0" "01695" "ABCA4_000048" "g.94476812A>G" "" "{PMID:Fujinami 2019:29925512}" "" "c.5584+6T>C, splice sitealteration ?" "" "Unknown" "yes" "" "0" "" "" "g.94011256A>G" "" "likely pathogenic (recessive)" ""
"0000776187" "0" "70" "1" "94586550" "94586550" "subst" "1.21864E-5" "01695" "ABCA4_000037" "g.94586550G>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.52C>T, p.Arg18Trp" "" "Unknown" "" "" "0" "" "" "g.94120994G>A" "" "likely pathogenic (recessive)" ""
"0000776188" "0" "50" "1" "94496123" "94496123" "subst" "1.62889E-5" "01695" "ABCA4_001837" "g.94496123G>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.4254-41C>T, deepintron" "" "Unknown" "" "" "0" "" "" "g.94030567G>A" "" "VUS" ""
"0000776189" "0" "90" "1" "94473189" "94473189" "subst" "0" "01695" "ABCA4_000385" "g.94473189C>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.6005+1G>T, splicesite alteration" "" "Unknown" "" "" "0" "" "" "g.94007633C>A" "" "pathogenic (recessive)" ""
"0000776190" "0" "50" "1" "94463425" "94463425" "subst" "0.000109787" "01695" "ABCA4_000853" "g.94463425G>C" "" "{PMID:Fujinami 2019:29925512}" "" "c.6721C>G,p.Leu2241Val" "" "Unknown" "" "" "0" "" "" "g.93997869G>C" "" "VUS" ""
"0000776191" "0" "70" "1" "94467467" "94467467" "subst" "4.06164E-6" "01695" "ABCA4_000780" "g.94467467G>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.6229C>T,p.Arg2077Trp" "" "Unknown" "" "" "0" "" "" "g.94001911G>A" "" "likely pathogenic (recessive)" ""
"0000776192" "0" "90" "1" "94496083" "94496083" "subst" "0" "01695" "ABCA4_001835" "g.94496083C>G" "" "{PMID:Fujinami 2019:29925512}" "" "c.4254-1G>C, splicesite alteration" "" "Unknown" "" "" "0" "" "" "g.94030527C>G" "" "pathogenic (recessive)" ""
"0000776193" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.3322C>T,p.Arg1108Cys" "" "Unknown" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000776194" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.5882G>A,p.Gly1961Glu c.6320G>A,p.Arg2107His" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000776195" "0" "90" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.5882G>A,p.Gly1961Glu c.6320G>A,p.Arg2107His" "" "Unknown" "" "" "0" "" "" "g.94001068C>T" "" "pathogenic (recessive)" ""
"0000776196" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.5882G>A,p.Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000776197" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.5882G>A,p.Gly1961Glu" "" "Unknown" "yes" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000776198" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.3386G>T,p.Arg1129Leu" "" "Unknown" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000776199" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.5882G>A,p.Gly1961Glu" "" "Unknown" "yes" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000776200" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.5882G>A,p.Gly1961Glu" "" "Unknown" "yes" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000776201" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.5882G>A,p.Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000776202" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.3113C>T,p.Ala1038Val" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000776203" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.5882G>A,p.Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000776204" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.3113C>T,p.Ala1038Val" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000776205" "0" "90" "1" "94474428" "94474428" "subst" "0" "01695" "ABCA4_001662" "g.94474428C>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.5715-1G>T, splice sitealteration" "" "Unknown" "" "" "0" "" "" "g.94008872C>A" "" "pathogenic (recessive)" ""
"0000776206" "0" "70" "1" "94496509" "94496509" "subst" "0.00475243" "01695" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.4253+43G>A, deepintron" "" "Unknown" "" "" "0" "" "" "g.94030953C>T" "" "likely pathogenic (recessive)" ""
"0000776207" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.3113C>T,p.Ala1038Val" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000776208" "0" "70" "1" "94496509" "94496509" "subst" "0.00475243" "01695" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.4253+43G>A, deepintron" "" "Unknown" "" "" "0" "" "" "g.94030953C>T" "" "likely pathogenic (recessive)" ""
"0000776209" "0" "70" "1" "94474365" "94474365" "subst" "0" "01695" "ABCA4_001657" "g.94474365T>G" "" "{PMID:Fujinami 2019:29925512}" "" "c.5777A>C,p.Gln1926Pro" "" "Unknown" "yes" "" "0" "" "" "g.94008809T>G" "" "likely pathogenic (recessive)" ""
"0000776210" "0" "50" "1" "94496008" "94496008" "subst" "2.03056E-5" "01695" "ABCA4_000148" "g.94496008C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.4328G>A,p.Arg1443His" "" "Unknown" "" "" "0" "" "" "g.94030452C>T" "" "VUS" ""
"0000776211" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.5882G>A,p.Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000776212" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Fujinami 2019:29925512}" "" "c.5461-10T>C, splicesite alteration" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000776213" "0" "50" "1" "94564462" "94564462" "subst" "4.06775E-5" "01695" "ABCA4_000380" "g.94564462C>G" "" "{PMID:Fujinami 2019:29925512}" "" "c.656G>C, p.Arg219Thr" "" "Unknown" "" "" "0" "" "" "g.94098906C>G" "" "VUS" ""
"0000776214" "0" "70" "1" "94506805" "94506805" "subst" "2.03051E-5" "01695" "ABCA4_001294" "g.94506805C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.3482G>A,p.Arg1161His" "" "Unknown" "" "" "0" "" "" "g.94041249C>T" "" "likely pathogenic (recessive)" ""
"0000776215" "0" "70" "1" "94496509" "94496509" "subst" "0.00475243" "01695" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.4253+43G>A, deepintron" "" "Unknown" "" "" "0" "" "" "g.94030953C>T" "" "likely pathogenic (recessive)" ""
"0000776216" "0" "90" "1" "94564326" "94564359" "del" "0" "01695" "ABCA4_002171" "g.94564326_94564359del" "" "{PMID:Fujinami 2019:29925512}" "" "c.760_768+25delTTCCGTGTGGTAAGGGAGGGGTTTGGCTGCTCGC, p.Phe2541GlnfsTer8" "" "Unknown" "" "" "0" "" "" "g.94098770_94098803del" "" "pathogenic (recessive)" ""
"0000776217" "0" "70" "1" "94508340" "94508340" "subst" "4.06171E-6" "01695" "ABCA4_000630" "g.94508340T>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.3305A>T,p.Asp1102Val" "" "Unknown" "" "" "0" "" "" "g.94042784T>A" "" "likely pathogenic (recessive)" ""
"0000776218" "0" "70" "1" "94463499" "94463499" "subst" "1.21857E-5" "01695" "ABCA4_001568" "g.94463499G>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.6647C>T,p.Ala2216Val" "" "Unknown" "" "" "0" "" "" "g.93997943G>A" "" "likely pathogenic (recessive)" ""
"0000776219" "0" "90" "1" "94510212" "94510212" "dup" "0" "01695" "ABCA4_001964" "g.94510212dup" "" "{PMID:Fujinami 2019:29925512}" "" "c.3007_3008insC,p.Gln1003ArgfsTer20" "" "Unknown" "" "" "0" "" "" "g.94044656dup" "" "pathogenic (recessive)" ""
"0000776220" "0" "70" "1" "94528248" "94528248" "subst" "1.22148E-5" "01695" "ABCA4_000279" "g.94528248A>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.1822T>A, p.Phe608Ile" "" "Unknown" "" "" "0" "" "" "g.94062692A>T" "" "likely pathogenic (recessive)" ""
"0000776221" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.3113C>T,p.Ala1038Val" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000776222" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.5882G>A,p.Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000776223" "0" "90" "1" "94546047" "94546047" "subst" "0" "01695" "ABCA4_000150" "g.94546047A>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.1086T>A, p.Tyr362Ter" "" "Unknown" "" "" "0" "" "" "g.94080491A>T" "" "pathogenic (recessive)" ""
"0000776224" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.5714+5G>A, splicesite alteration" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000776225" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.5882G>A,p.Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000776226" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.5882G>A,p.Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000776227" "0" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.4469G>A,p.Cys1490Tyr" "" "Unknown" "" "" "0" "" "" "g.94029515C>T" "" "likely pathogenic (recessive)" ""
"0000776228" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.5882G>A,p.Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000776229" "0" "50" "1" "94485220" "94485220" "subst" "0.000106324" "01695" "ABCA4_000121" "g.94485220C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.5114G>A,p.Arg1705Gln" "" "Unknown" "" "" "0" "" "" "g.94019664C>T" "" "VUS" ""
"0000776230" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.5882G>A,p.Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000776231" "0" "90" "1" "94509032" "94509032" "subst" "0" "01695" "ABCA4_001354" "g.94509032C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.3051-1G>A, splice sitealteration" "" "Unknown" "" "" "0" "" "" "g.94043476C>T" "" "pathogenic (recessive)" ""
"0000776232" "0" "90" "1" "94486794" "94486794" "subst" "0" "01695" "ABCA4_000478" "g.94486794A>G" "" "{PMID:Fujinami 2019:29925512}" "" "c.5018+2T>C, splice sitealteration" "" "Unknown" "" "" "0" "" "" "g.94021238A>G" "" "pathogenic (recessive)" ""
"0000776233" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.5882G>A,p.Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000776234" "0" "90" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Fujinami 2019:29925512}" "" "c.2894A>G,p.Asn965Ser" "" "Unknown" "" "" "0" "" "" "g.94046943T>C" "" "pathogenic (recessive)" ""
"0000776235" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.5882G>A,p.Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000776236" "0" "70" "1" "94471055" "94471055" "subst" "0.00035346" "01695" "ABCA4_000029" "g.94471055C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.6089G>A,p.Arg2030Gln" "" "Unknown" "" "" "0" "" "" "g.94005499C>T" "" "likely pathogenic (recessive)" ""
"0000776237" "0" "70" "1" "94490567" "94490567" "subst" "5.68528E-5" "01695" "ABCA4_000026" "g.94490567G>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.4577C>T,p.Thr1526Met" "" "Unknown" "" "" "0" "" "" "g.94025011G>A" "" "likely pathogenic (recessive)" ""
"0000776238" "0" "70" "1" "94495083" "94495083" "subst" "0.000124542" "01695" "ABCA4_000542" "g.94495083G>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.4457C>T,p.Pro1486Leu" "" "Unknown" "" "" "0" "" "" "g.94029527G>A" "" "likely pathogenic (recessive)" ""
"0000776239" "0" "70" "1" "94474323" "94474323" "subst" "2.03034E-5" "01695" "ABCA4_000156" "g.94474323A>G" "" "{PMID:Fujinami 2019:29925512}" "" "c.5819T>C,p.Leu1940Pro" "" "Unknown" "" "" "0" "" "" "g.94008767A>G" "" "likely pathogenic (recessive)" ""
"0000776240" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.3322C>T,p.Arg1108Cys" "" "Unknown" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000776241" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.3113C>T,p.Ala1038Val" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000776242" "0" "70" "1" "94474369" "94474369" "subst" "4.06118E-6" "01695" "ABCA4_001658" "g.94474369T>C" "" "{PMID:Fujinami 2019:29925512}" "" "c.5773A>G,p.Arg1925Gly" "" "Unknown" "" "" "0" "" "" "g.94008813T>C" "" "likely pathogenic (recessive)" ""
"0000776243" "0" "50" "1" "94495034" "94495034" "subst" "1.58698E-5" "01695" "ABCA4_000964" "g.94495034G>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.4506C>T,p.Cys1502Cys" "" "Unknown" "" "" "0" "" "" "g.94029478G>A" "" "VUS" ""
"0000776244" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.5882G>A,p.Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000776245" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.5714+5G>A, splicesite alteration" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000776246" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.5882G>A,p.Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000776247" "0" "90" "1" "94467515" "94467518" "del" "0" "01695" "ABCA4_001380" "g.94467515_94467518del" "" "{PMID:Fujinami 2019:29925512}" "" "c.6181_6184delACTG,p.Thr2061SerfsTer53" "" "Unknown" "" "" "0" "" "" "g.94001959_94001962del" "" "pathogenic (recessive)" ""
"0000776248" "0" "70" "1" "94485250" "94485250" "subst" "0" "01695" "ABCA4_001732" "g.94485250G>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.5084C>A,p.Ala1695Asp" "" "Unknown" "" "" "0" "" "" "g.94019694G>T" "" "likely pathogenic (recessive)" ""
"0000776249" "0" "10" "1" "94461717" "94461717" "subst" "0.0703199" "01695" "ABCA4_000003" "g.94461717C>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.6764G>T,p.Ser2255Ile" "" "Unknown" "" "" "0" "" "" "g.93996161C>A" "" "benign" ""
"0000776250" "0" "70" "1" "94495036" "94495036" "subst" "0" "01695" "ABCA4_001499" "g.94495036A>C" "" "{PMID:Fujinami 2019:29925512}" "" "c.4504T>G,p.Cys1502Gly" "" "Unknown" "" "" "0" "" "" "g.94029480A>C" "" "likely pathogenic (recessive)" ""
"0000776251" "0" "70" "1" "94486896" "94486896" "subst" "3.65562E-5" "01695" "ABCA4_000085" "g.94486896G>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.4918C>T,p.Arg1640Trp" "" "Unknown" "" "" "0" "" "" "g.94021340G>A" "" "likely pathogenic (recessive)" ""
"0000776252" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.5882G>A,p.Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000776253" "0" "90" "1" "94528132" "94528132" "subst" "4.06835E-6" "01695" "ABCA4_000773" "g.94528132C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.1937+1G>A, splicesite alteration" "" "Unknown" "" "" "0" "" "" "g.94062576C>T" "" "pathogenic (recessive)" ""
"0000776254" "0" "10" "1" "94505604" "94505604" "subst" "0.00645586" "01695" "ABCA4_000092" "g.94505604A>C" "" "{PMID:Fujinami 2019:29925512}" "" "c.3602T>G,p.Leu1201Arg" "" "Unknown" "" "" "0" "" "" "g.94040048A>C" "" "benign" ""
"0000776255" "0" "70" "1" "94490567" "94490567" "subst" "5.68528E-5" "01695" "ABCA4_000026" "g.94490567G>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.4577C>T,p.Thr1526Met" "" "Unknown" "" "" "0" "" "" "g.94025011G>A" "" "likely pathogenic (recessive)" ""
"0000776256" "0" "70" "1" "94484001" "94484001" "subst" "0" "01695" "ABCA4_000016" "g.94484001C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.5196+1137G>A, deepintron" "" "Unknown" "" "" "0" "" "" "g.94018445C>T" "" "likely pathogenic (recessive)" ""
"0000776257" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.5882G>A,p.Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000776258" "0" "70" "1" "94522239" "94522239" "subst" "2.03305E-5" "01695" "ABCA4_000736" "g.94522239A>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.2300T>A,p.Val767Asp" "" "Unknown" "" "" "0" "" "" "g.94056683A>T" "" "likely pathogenic (recessive)" ""
"0000776259" "0" "70" "1" "94528151" "94528151" "subst" "0" "01695" "ABCA4_000265" "g.94528151G>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.1919C>T,p.Pro640Leu" "" "Unknown" "" "" "0" "" "" "g.94062595G>A" "" "likely pathogenic (recessive)" ""
"0000776260" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Fujinami 2019:29925512}" "" "c.2588G>C,p.Gly863Ala" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000776261" "0" "70" "1" "94467475" "94467475" "subst" "3.65542E-5" "01695" "ABCA4_000171" "g.94467475C>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.6221G>T,p.Gly2074Val" "" "Unknown" "" "" "0" "" "" "g.94001919C>A" "" "likely pathogenic (recessive)" ""
"0000776262" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.5882G>A,p.Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000776263" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.5882G>A,p.Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000776264" "0" "50" "1" "94485257" "94485257" "subst" "0.00017945" "01695" "ABCA4_000100" "g.94485257C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.5077G>A,p.Val1693Ile" "" "Unknown" "" "" "0" "" "" "g.94019701C>T" "" "VUS" ""
"0000776265" "0" "90" "1" "94466556" "94466556" "subst" "4.06164E-6" "01695" "ABCA4_000831" "g.94466556G>C" "" "{PMID:Fujinami 2019:29925512}" "" "c.6386+2C>G, splicesite alteration" "" "Unknown" "" "" "0" "" "" "g.94001000G>C" "" "pathogenic (recessive)" ""
"0000776266" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.768G>T, p.Val256Val(splice site alteration)" "" "Unknown" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000776267" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.5882G>A,p.Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000776268" "0" "90" "1" "94471056" "94471056" "subst" "2.84398E-5" "01695" "ABCA4_000050" "g.94471056G>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.6088C>T,p.Arg2030Ter" "" "Unknown" "" "" "0" "" "" "g.94005500G>A" "" "pathogenic (recessive)" ""
"0000776269" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.5882G>A,p.Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000776270" "0" "70" "1" "94490567" "94490567" "subst" "5.68528E-5" "01695" "ABCA4_000026" "g.94490567G>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.4577C>T,p.Thr1526Met" "" "Unknown" "" "" "0" "" "" "g.94025011G>A" "" "likely pathogenic (recessive)" ""
"0000776271" "0" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.4469G>A,p.Cys1490Tyr" "" "Unknown" "yes" "" "0" "" "" "g.94029515C>T" "" "likely pathogenic (recessive)" ""
"0000776272" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.4139C>T,p.Pro1380Leu" "" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000776273" "0" "90" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.6320G>A,p.Arg2107His" "" "Unknown" "" "" "0" "" "" "g.94001068C>T" "" "pathogenic (recessive)" ""
"0000776274" "0" "70" "1" "94506902" "94506902" "subst" "1.21834E-5" "01695" "ABCA4_000623" "g.94506902G>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.3385C>T,p.Arg1129Cys" "" "Unknown" "" "" "0" "" "" "g.94041346G>A" "" "likely pathogenic (recessive)" ""
"0000776275" "0" "70" "1" "94495024" "94495024" "subst" "0" "01695" "ABCA4_001804" "g.94495024C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.4516G>A,p.Ala1506Thr" "" "Unknown" "" "" "0" "" "" "g.94029468C>T" "" "likely pathogenic (recessive)" ""
"0000776276" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.5882G>A,p.Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000776277" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.3113C>T,p.Ala1038Val" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000776278" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.5882G>A,p.Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000776279" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.3113C>T,p.Ala1038Val" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000776280" "0" "50" "1" "94480164" "94480164" "subst" "0" "01695" "ABCA4_000440" "g.94480164T>C" "" "{PMID:Fujinami 2019:29925512}" "" "c.5395A>G,p.Asn1799Asp" "" "Unknown" "" "" "0" "" "" "g.94014608T>C" "" "VUS" ""
"0000776281" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.4139C>T,p.Pro1380Leu" "" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000776282" "0" "70" "1" "94496583" "94496583" "subst" "2.03092E-5" "01695" "ABCA4_000190" "g.94496583A>G" "" "{PMID:Fujinami 2019:29925512}" "" "c.4222T>C,p.Trp1408Arg" "" "Unknown" "" "" "0" "" "" "g.94031027A>G" "" "likely pathogenic (recessive)" ""
"0000776283" "0" "70" "1" "94486896" "94486896" "subst" "3.65562E-5" "01695" "ABCA4_000085" "g.94486896G>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.4918C>T,p.Arg1640Trp" "" "Unknown" "" "" "0" "" "" "g.94021340G>A" "" "likely pathogenic (recessive)" ""
"0000776284" "0" "70" "1" "94495077" "94495077" "subst" "0" "01695" "ABCA4_000184" "g.94495077C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.4463G>A,p.Cys1488Tyr" "" "Unknown" "" "" "0" "" "" "g.94029521C>T" "" "likely pathogenic (recessive)" ""
"0000776285" "0" "50" "1" "94467548" "94467548" "subst" "0.00295661" "01695" "ABCA4_000788" "g.94467548C>G" "" "{PMID:Fujinami 2019:29925512}" "" "c.6148G>C,p.Val2050Leu" "" "Unknown" "" "" "0" "" "" "g.94001992C>G" "" "VUS" ""
"0000776286" "0" "90" "1" "94508386" "94508386" "subst" "1.62443E-5" "01695" "ABCA4_000642" "g.94508386C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.3259G>A,p.Glu1087Lys" "" "Unknown" "" "" "0" "" "" "g.94042830C>T" "" "pathogenic (recessive)" ""
"0000776287" "0" "90" "1" "94485162" "94485162" "subst" "0" "01695" "ABCA4_001419" "g.94485162C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.5172G>A,p.Trp1724Ter" "" "Unknown" "" "" "0" "" "" "g.94019606C>T" "" "pathogenic (recessive)" ""
"0000776288" "0" "70" "1" "94486896" "94486896" "subst" "3.65562E-5" "01695" "ABCA4_000085" "g.94486896G>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.4918C>T,p.Arg1640Trp" "" "Unknown" "" "" "0" "" "" "g.94021340G>A" "" "likely pathogenic (recessive)" ""
"0000776289" "0" "50" "1" "94514477" "94514477" "subst" "0.00118992" "01695" "ABCA4_000700" "g.94514477G>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.2690C>T, p.Thr897Ile" "" "Unknown" "" "" "0" "" "" "g.94048921G>A" "" "VUS" ""
"0000776290" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Fujinami 2019:29925512}" "" "c.5461-10T>C, splicesite alteration" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000776291" "0" "70" "1" "94480241" "94480241" "subst" "7.71705E-5" "01695" "ABCA4_000446" "g.94480241G>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.5318C>T,p.Ala1773Val" "" "Unknown" "" "" "0" "" "" "g.94014685G>A" "" "likely pathogenic (recessive)" ""
"0000776292" "0" "50" "1" "94495034" "94495034" "subst" "1.58698E-5" "01695" "ABCA4_000964" "g.94495034G>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.4506C>T,p.Cys1502Cys" "" "Unknown" "" "" "0" "" "" "g.94029478G>A" "" "VUS" ""
"0000776293" "0" "70" "1" "94487466" "94487466" "subst" "4.06134E-6" "01695" "ABCA4_001764" "g.94487466G>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.4709C>T,p.Pro1570Leu" "" "Unknown" "" "" "0" "" "" "g.94021910G>A" "" "likely pathogenic (recessive)" ""
"0000776294" "0" "50" "1" "94578524" "94578524" "subst" "0" "01695" "ABCA4_002237" "g.94578524C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.160+5G>A, splice sitealteration" "" "Unknown" "" "" "0" "" "" "g.94112968C>T" "" "VUS" ""
"0000776295" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.5882G>A,p.Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000776296" "0" "90" "1" "94508386" "94508386" "subst" "1.62443E-5" "01695" "ABCA4_000642" "g.94508386C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.3259G>A,p.Glu1087Lys" "" "Unknown" "" "" "0" "" "" "g.94042830C>T" "" "pathogenic (recessive)" ""
"0000776297" "0" "70" "1" "94466561" "94466561" "subst" "8.12288E-6" "01695" "ABCA4_000834" "g.94466561T>C" "" "{PMID:Fujinami 2019:29925512}" "" "c.6383A>G,p.His2128Arg" "" "Unknown" "" "" "0" "" "" "g.94001005T>C" "" "likely pathogenic (recessive)" ""
"0000776298" "0" "90" "1" "94548932" "94548932" "del" "4.06587E-6" "01695" "ABCA4_001022" "g.94548932del" "" "{PMID:Fujinami 2019:29925512}" "" "c.834delT,p.Ser278SerfsTer22" "" "Unknown" "" "" "0" "" "" "g.94083376del" "" "pathogenic (recessive)" ""
"0000776299" "0" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.4469G>A,p.Cys1490Tyr" "" "Unknown" "" "" "0" "" "" "g.94029515C>T" "" "likely pathogenic (recessive)" ""
"0000776300" "0" "70" "1" "94486896" "94486896" "subst" "3.65562E-5" "01695" "ABCA4_000085" "g.94486896G>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.4918C>T,p.Arg1640Trp" "" "Unknown" "" "" "0" "" "" "g.94021340G>A" "" "likely pathogenic (recessive)" ""
"0000776301" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.5882G>A,p.Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000776302" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.5882G>A,p.Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000776303" "0" "70" "1" "94471055" "94471055" "subst" "0.00035346" "01695" "ABCA4_000029" "g.94471055C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.6089G>A,p.Arg2030Gln" "" "Unknown" "" "" "0" "" "" "g.94005499C>T" "" "likely pathogenic (recessive)" ""
"0000776304" "0" "70" "1" "94510178" "94510178" "subst" "0" "01695" "ABCA4_000664" "g.94510178A>C" "" "{PMID:Fujinami 2019:29925512}" "" "c.3041T>G,p.Leu1014Arg" "" "Unknown" "" "" "0" "" "" "g.94044622A>C" "" "likely pathogenic (recessive)" ""
"0000776305" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.5882G>A,p.Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000776306" "0" "90" "1" "94466556" "94466556" "subst" "4.06164E-6" "01695" "ABCA4_000831" "g.94466556G>C" "" "{PMID:Fujinami 2019:29925512}" "" "c.6386+2C>G, splicesite alteration" "" "Unknown" "" "" "0" "" "" "g.94001000G>C" "" "pathogenic (recessive)" ""
"0000776307" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.6079C>T,p.Leu2027Phe" "" "Unknown" "" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic (recessive)" ""
"0000776308" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Fujinami 2019:29925512}" "" "c.5461-10T>C, splicesite alteration" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000776309" "0" "70" "1" "94471055" "94471055" "subst" "0.00035346" "01695" "ABCA4_000029" "g.94471055C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.6089G>A,p.Arg2030Gln" "" "Unknown" "" "" "0" "" "" "g.94005499C>T" "" "likely pathogenic (recessive)" ""
"0000776310" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.5714+5G>A, splicesite alteration" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000776311" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.3113C>T,p.Ala1038Val" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000776312" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Fujinami 2019:29925512}" "" "c.5461-10T>C, splicesite alteration" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000776313" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.5882G>A,p.Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000776314" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.3113C>T,p.Ala1038Val" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000776315" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Fujinami 2019:29925512}" "" "c.5882G>A,p.Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000776316" "0" "70" "1" "94490567" "94490567" "subst" "5.68528E-5" "01695" "ABCA4_000026" "g.94490567G>A" "" "{PMID:Fujinami 2019:29925512}" "" "c.4577C>T,p.Thr1526Met" "" "Unknown" "" "" "0" "" "" "g.94025011G>A" "" "likely pathogenic (recessive)" ""
"0000776317" "2" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Runhart 2018:29971439}" "" "c.5603A>T" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000776318" "2" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Runhart 2018:29971439}" "" "c.5603A>T" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000776319" "2" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Runhart 2018:29971439}" "" "c.5603A>T" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000776320" "2" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Runhart 2018:29971439}" "" "c.5603A>T" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000776321" "2" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Runhart 2018:29971439}" "" "c.5603A>T" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000776322" "2" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Runhart 2018:29971439}" "" "c.5603A>T" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000776323" "2" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Runhart 2018:29971439}" "" "c.5603A>T" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000776324" "2" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Runhart 2018:29971439}" "" "c.5603A>T" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000776325" "3" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Runhart 2018:29971439}" "" "c.[5461-10T>C;5603A>T] p.[Thr1821Valfs*13, Thr1821Aspfs*6; Asn1868Ile]" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000776326" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Runhart 2018:29971439}" "" "c.5603A>T" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000776327" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Runhart 2018:29971439}" "" "c.5603A>T" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000776328" "2" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Runhart 2018:29971439}" "" "c.5603A>T" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000776329" "2" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Runhart 2018:29971439}" "" "c.5603A>T" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000776330" "2" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Runhart 2018:29971439}" "" "c.5603A>T" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000776331" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Runhart 2018:29971439}" "" "c.5603A>T" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000776332" "2" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Runhart 2018:29971439}" "" "c.5603A>T" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000776333" "2" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Runhart 2018:29971439}" "" "c.5603A>T" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000776334" "2" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Runhart 2018:29971439}" "" "c.5603A>T" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000776335" "2" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Runhart 2018:29971439}" "" "c.5603A>T" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000776336" "3" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Runhart 2018:29971439}" "" "c.[5461-10T>C; 5603A>T] p.[Thr1821Valfs*13, Thr1821Aspfs*6; Asn1868Ile]" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000776337" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Runhart 2018:29971439}" "" "c.5603A>T" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000776338" "3" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Runhart 2018:29971439}" "" "c.[4469G>A; 5603A>T] p.[Cys1490Glufs*12; Asn1868Ile]" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000776339" "0" "50" "1" "94528137" "94528137" "subst" "2.03363E-5" "01695" "ABCA4_000774" "g.94528137C>T" "" "{PMID:Sung 2019:29975949}" "" "c.1933G>A p.Asp645Asn" "" "Unknown" "" "" "0" "" "" "g.94062581C>T" "" "VUS" ""
"0000776340" "0" "70" "1" "94508976" "94508976" "subst" "1.21906E-5" "01695" "ABCA4_000655" "g.94508976C>T" "" "{PMID:Sung 2019:29975949}" "" "c.3106G>A p.Glu1036Lys" "" "Unknown" "" "" "0" "" "" "g.94043420C>T" "" "likely pathogenic (recessive)" ""
"0000776341" "0" "70" "1" "94486842" "94486842" "subst" "1.21833E-5" "01695" "ABCA4_001740" "g.94486842T>G" "" "{PMID:Sung 2019:29975949}" "" "c.4972A>C p.Ser1658Arg" "" "Unknown" "" "" "0" "" "" "g.94021286T>G" "" "likely pathogenic (recessive)" ""
"0000776342" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Sung 2019:29975949}" "" "c.1804C>T p.Arg602Trp" "" "Unknown" "" "" "0" "" "" "g.94062710G>A" "" "pathogenic (recessive)" ""
"0000776343" "0" "70" "1" "94473266" "94473266" "subst" "8.14677E-6" "01695" "ABCA4_000389" "g.94473266C>T" "" "{PMID:Sung 2019:29975949}" "" "c.5929G>A p.Gly1977Ser" "" "Unknown" "" "" "0" "" "" "g.94007710C>T" "" "likely pathogenic (recessive)" ""
"0000776344" "0" "70" "1" "94476414" "94476414" "subst" "0" "01695" "ABCA4_001670" "g.94476414C>T" "" "{PMID:Sung 2019:29975949}" "" "c.5656G>A p.Gly1886Arg" "" "Unknown" "" "" "0" "" "" "g.94010858C>T" "" "likely pathogenic (recessive)" ""
"0000776345" "0" "90" "1" "94471001" "94471001" "del" "0" "01695" "ABCA4_001337" "g.94471001del" "" "{PMID:Sung 2019:29975949}" "" "c.6146_6146delA p.Lys2049Arg" "" "Unknown" "" "" "0" "" "" "g.94005445del" "" "pathogenic (recessive)" ""
"0000776346" "0" "70" "1" "94544193" "94544193" "subst" "0" "01695" "ABCA4_002130" "g.94544193G>T" "" "{PMID:Sung 2019:29975949}" "" "c.1309C>A p.Gln437Lys" "" "Unknown" "" "" "0" "" "" "g.94078637G>T" "" "likely pathogenic (recessive)" ""
"0000776347" "0" "50" "1" "94528729" "94528729" "subst" "0.000255885" "01695" "ABCA4_000297" "g.94528729C>T" "" "{PMID:Sung 2019:29975949}" "" "c.1699G>A p.Val567Met" "" "Unknown" "" "" "0" "" "" "g.94063173C>T" "" "VUS" ""
"0000776348" "0" "10" "1" "94461717" "94461717" "subst" "0.0703199" "01695" "ABCA4_000003" "g.94461717C>A" "" "{PMID:Sung 2019:29975949}" "" "c.6764G>T p.Ser2255Ile" "" "Unknown" "" "" "0" "" "" "g.93996161C>A" "" "benign" ""
"0000776349" "0" "10" "1" "94564483" "94564483" "subst" "0.0409724" "01695" "ABCA4_000009" "g.94564483C>T" "" "{PMID:Sung 2019:29975949}" "" "c.635G>A p.Arg212His" "" "Unknown" "" "" "0" "" "" "g.94098927C>T" "" "benign" ""
"0000776350" "0" "10" "1" "94544234" "94544234" "subst" "0.255245" "01695" "ABCA4_000322" "g.94544234T>C" "" "{PMID:Sung 2019:29975949}" "" "c.1268A>G p.His423Arg" "" "Unknown" "" "" "0" "" "" "g.94078678T>C" "" "benign" ""
"0000776351" "0" "50" "1" "94544208" "94544208" "subst" "0.000158364" "01695" "ABCA4_000320" "g.94544208C>T" "" "{PMID:Sung 2019:29975949}" "" "c.1294G>A p.Glu432Lys" "" "Unknown" "" "" "0" "" "" "g.94078652C>T" "" "VUS" ""
"0000776352" "0" "70" "1" "94487490" "94487490" "subst" "0.00122268" "01695" "ABCA4_000506" "g.94487490A>G" "" "{PMID:Sung 2019:29975949}" "" "4685T>A (Ile1562Thr)" "" "Unknown" "" "" "0" "" "" "g.94021934A>G" "" "likely pathogenic (recessive)" ""
"0000776353" "0" "70" "1" "94510185" "94510187" "del" "0" "01695" "ABCA4_001962" "g.94510185_94510187del" "" "{PMID:Sung 2019:29975949}" "" "c.3035_3037delACA p.Asn1012Ile" "" "Unknown" "" "" "0" "" "" "g.94044629_94044631del" "" "likely pathogenic (recessive)" ""
"0000776354" "0" "50" "1" "94466482" "94466482" "subst" "0" "01695" "ABCA4_000829" "g.94466482A>T" "" "{PMID:Sung 2019:29975949}" "" "c.6389T>A p.Met2130Lys" "" "Unknown" "" "" "0" "" "" "g.94000926A>T" "" "VUS" ""
"0000776355" "0" "70" "1" "94506889" "94506889" "subst" "4.06091E-6" "01695" "ABCA4_000619" "g.94506889A>G" "" "{PMID:Sung 2019:29975949}" "" "c.3398T>C p.Ile1133Thr" "" "Unknown" "" "" "0" "" "" "g.94041333A>G" "" "likely pathogenic (recessive)" ""
"0000776356" "0" "70" "1" "94476414" "94476414" "subst" "0" "01695" "ABCA4_001670" "g.94476414C>T" "" "{PMID:Sung 2019:29975949}" "" "c.5656G>A p.Gly1886Arg" "" "Unknown" "" "" "0" "" "" "g.94010858C>T" "" "likely pathogenic (recessive)" ""
"0000776357" "0" "90" "1" "94471001" "94471001" "del" "0" "01695" "ABCA4_001337" "g.94471001del" "" "{PMID:Sung 2019:29975949}" "" "c.6146-6146delA p.Lys2049Arg" "" "Unknown" "" "" "0" "" "" "g.94005445del" "" "pathogenic (recessive)" ""
"0000776358" "0" "70" "1" "94505659" "94505659" "subst" "0.000942724" "01695" "ABCA4_000921" "g.94505659C>A" "" "{PMID:Sung 2019:29975949}" "" "c.3547G>T p.Gly1183Cys" "" "Unknown" "" "" "0" "" "" "g.94040103C>A" "" "likely pathogenic (recessive)" ""
"0000776359" "0" "50" "1" "94466655" "94466655" "subst" "0" "01695" "ABCA4_000842" "g.94466655G>A" "" "{PMID:Sung 2019:29975949}" "" "c.6289C>T p.Pro2097Ser" "" "Unknown" "" "" "0" "" "" "g.94001099G>A" "" "VUS" ""
"0000776360" "0" "70" "1" "94487427" "94487427" "subst" "8.12176E-6" "01695" "ABCA4_001339" "g.94487427A>G" "" "{PMID:Sung 2019:29975949}" "" "c.4748T>C p.Leu1583Pro" "" "Unknown" "" "" "0" "" "" "g.94021871A>G" "" "likely pathogenic (recessive)" ""
"0000776361" "0" "90" "1" "94506817" "94506817" "subst" "0" "01695" "ABCA4_001342" "g.94506817A>C" "" "{PMID:Sung 2019:29975949}" "" "c.3470T>G p.Leu1157*" "" "Unknown" "" "" "0" "" "" "g.94041261A>C" "" "pathogenic (recessive)" ""
"0000776362" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Lee 2018:30055151}" "" "c.4139C>T p.(P1380L)" "" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000776363" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Lee 2018:30055151}" "" "c.5714+5G>A p.(?)" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000776364" "1" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Lee 2018:30055151}" "" "c.5603A>Ta p.(N1868I)" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000776365" "0" "90" "1" "94471056" "94471056" "subst" "2.84398E-5" "01695" "ABCA4_000050" "g.94471056G>A" "" "{PMID:Lee 2018:30055151}" "" "c.6088C>T p.(R2030*)" "" "Unknown" "" "" "0" "" "" "g.94005500G>A" "" "pathogenic (recessive)" ""
"0000776366" "0" "70" "1" "94544249" "94544249" "subst" "8.12196E-6" "01695" "ABCA4_000323" "g.94544249A>G" "" "{PMID:Lee 2018:30055151}" "" "c.1253T>C p.(F418S)" "" "Unknown" "" "" "0" "" "" "g.94078693A>G" "" "likely pathogenic (recessive)" ""
"0000776367" "0" "70" "1" "94493000" "94493000" "subst" "0" "01695" "ABCA4_000015" "g.94493000C>T" "" "{PMID:Lee 2018:30055151}" "" "c.4539+2001G>A p.(?)" "" "Unknown" "" "" "0" "" "" "g.94027444C>T" "" "likely pathogenic (recessive)" ""
"0000776368" "1" "70" "1" "94490550" "94490550" "subst" "0.000105588" "01695" "ABCA4_000523" "g.94490550C>T" "" "{PMID:Lee 2018:30055151}" "" "c.4594G>Aa p.(D1532N)" "" "Unknown" "" "" "0" "" "" "g.94024994C>T" "" "likely pathogenic (recessive)" ""
"0000776369" "1" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Lee 2018:30055151}" "" "c.5603A>Ta p.(N1868I)" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000776370" "0" "70" "1" "94487399" "94487399" "subst" "7.30959E-5" "01695" "ABCA4_000038" "g.94487399T>C" "" "{PMID:Lee 2018:30055151}" "" "c.4773+3A>G p.(?)" "" "Unknown" "" "" "0" "" "" "g.94021843T>C" "" "likely pathogenic (recessive)" ""
"0000776371" "1" "70" "1" "94490550" "94490550" "subst" "0.000105588" "01695" "ABCA4_000523" "g.94490550C>T" "" "{PMID:Lee 2018:30055151}" "" "c.4594G>Aa p.(D1532N)" "" "Unknown" "" "" "0" "" "" "g.94024994C>T" "" "likely pathogenic (recessive)" ""
"0000776372" "1" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Lee 2018:30055151}" "" "c.5603A>Ta p.(N1868I)" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000776373" "1" "50" "1" "94492973" "94492973" "subst" "0" "01695" "ABCA4_000030" "g.94492973G>A" "" "{PMID:Lee 2018:30055151}" "" "c.4539+2028C>Ta p.(?)" "" "Unknown" "" "" "0" "" "" "g.94027417G>A" "" "VUS" ""
"0000776374" "1" "90" "1" "94463476" "94468246" "del" "0" "01695" "ABCA4_001567" "g.94463476_94468246del" "" "{PMID:Lee 2018:30055151}" "" "c.6148–698_ c.6670del - 4770 bp del p.(?)" "" "Unknown" "" "" "0" "" "" "g.93997920_94002690del" "" "pathogenic (recessive)" ""
"0000776375" "1" "50" "1" "94492973" "94492973" "subst" "0" "01695" "ABCA4_000030" "g.94492973G>A" "" "{PMID:Lee 2018:30055151}" "" "c.4539+2028C>Ta p.(?)" "" "Unknown" "" "" "0" "" "" "g.94027417G>A" "" "VUS" ""
"0000776376" "1" "90" "1" "94463476" "94468246" "del" "0" "01695" "ABCA4_001567" "g.94463476_94468246del" "" "{PMID:Lee 2018:30055151}" "" "c.6148–698_ c.6670del - 4770 bp del p.(?)" "" "Unknown" "" "" "0" "" "" "g.93997920_94002690del" "" "pathogenic (recessive)" ""
"0000776377" "2" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Nassisi 2018:30060493}" "" "c.6079C>T p.(Leu2027Phe)" "" "Unknown" "yes" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic (recessive)" ""
"0000776378" "2" "50" "1" "94486888" "94486888" "subst" "3.65548E-5" "01695" "ABCA4_000137" "g.94486888G>C" "" "{PMID:Nassisi 2018:30060493}" "" "c.4926C>G p.(Ser1642Arg)" "" "Unknown" "yes" "" "0" "" "" "g.94021332G>C" "" "VUS" ""
"0000776379" "2" "70" "1" "94485279" "94485293" "del" "0" "01695" "ABCA4_000476" "g.94485279_94485293del" "" "{PMID:Nassisi 2018:30060493}" "" "c.5044_5058del p.(Val1682_Val1686del)" "" "Unknown" "yes" "" "0" "" "" "g.94019723_94019737del" "" "likely pathogenic (recessive)" ""
"0000776380" "2" "50" "1" "94512574" "94512574" "subst" "0.00025589" "01695" "ABCA4_000694" "g.94512574G>C" "" "{PMID:Nassisi 2018:30060493}" "" "c.2819C>G p.(Pro940Arg)" "" "Unknown" "yes" "" "0" "" "" "g.94047018G>C" "" "VUS" ""
"0000776381" "2" "70" "1" "94506923" "94506923" "subst" "2.43657E-5" "01695" "ABCA4_000012" "g.94506923C>T" "" "{PMID:Nassisi 2018:30060493}" "" "c.3364G>A p.(Glu1122Lys)" "" "Unknown" "yes" "" "0" "" "" "g.94041367C>T" "" "likely pathogenic (recessive)" ""
"0000776382" "2" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Nassisi 2018:30060493}" "" "c.5882G>A p.(Gly1961Glu)" "" "Unknown" "yes" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000776383" "0" "90" "1" "94508353" "94508353" "subst" "2.8431E-5" "01695" "ABCA4_000141" "g.94508353G>A" "" "{PMID:Nassisi 2018:30060493}" "" "c.3292C>T p.(Arg1098Cys)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94042797G>A" "" "pathogenic (recessive)" ""
"0000776384" "2" "70" "1" "94486896" "94486896" "subst" "3.65562E-5" "01695" "ABCA4_000085" "g.94486896G>A" "" "{PMID:Nassisi 2018:30060493}" "" "c.4918C>T p.(Arg1640Trp)" "" "Unknown" "yes" "" "0" "" "" "g.94021340G>A" "" "likely pathogenic (recessive)" ""
"0000776385" "2" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Nassisi 2018:30060493}" "" "c.5603A>T p.(Asn1868Ile)" "" "Unknown" "yes" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000776386" "2" "70" "1" "94486896" "94486896" "subst" "3.65562E-5" "01695" "ABCA4_000085" "g.94486896G>A" "" "{PMID:Nassisi 2018:30060493}" "" "c.4918C>T p.(Arg1640Trp)" "" "Unknown" "yes" "" "0" "" "" "g.94021340G>A" "" "likely pathogenic (recessive)" ""
"0000776387" "2" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Nassisi 2018:30060493}" "" "c.5603A>T p.(Asn1868Ile)" "" "Unknown" "yes" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000776388" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Nassisi 2018:30060493}" "" "c.3386G>T p.(Arg1129Leu)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000776389" "2" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Nassisi 2018:30060493}" "" "c.5461-10T>C[45]. PThr1821Valfs, Thr1821Aspfs]" "" "Unknown" "yes" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000776390" "2" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Nassisi 2018:30060493}" "" "c.5603A>T p.(Asn1868Ile)" "" "Unknown" "yes" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000776391" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Nassisi 2018:30060493}" "" "c.5882G>A p.(Gly1961Glu)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000776392" "0" "90" "1" "94473190" "94473190" "del" "0" "01695" "ABCA4_001031" "g.94473190del" "" "{PMID:Nassisi 2018:30060493}" "" "c.6005+1del p.?" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94007634del" "" "pathogenic (recessive)" ""
"0000776393" "2" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Nassisi 2018:30060493}" "" "c.2588G>C p.(Gly863Ala)" "" "Unknown" "yes" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000776394" "2" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Nassisi 2018:30060493}" "" "c.5603A>T p.(Asn1868Ile)" "" "Unknown" "yes" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000776395" "2" "70" "1" "94473256" "94473256" "subst" "0" "01695" "ABCA4_001638" "g.94473256G>A" "" "{PMID:Nassisi 2018:30060493}" "" "c.5939C>T p.(Thr1980Ile)" "" "Unknown" "yes" "" "0" "" "" "g.94007700G>A" "" "likely pathogenic (recessive)" ""
"0000776396" "1" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Nassisi 2018:30060493}" "" "c.5603A>T p.(Asn1868Ile)" "" "Unknown" "yes" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000776397" "2" "90" "1" "94495009" "94495009" "dup" "0" "01695" "ABCA4_000087" "g.94495009dup" "" "{PMID:Nassisi 2018:30060493}" "" "c.4537dup p.(Gln1513Profs*42)" "" "Unknown" "yes" "" "0" "" "" "g.94029453dup" "" "pathogenic (recessive)" ""
"0000776398" "2" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Nassisi 2018:30060493}" "" "c.5882G>A p.(Gly1961Glu)" "" "Unknown" "yes" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000776399" "2" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Nassisi 2018:30060493}" "" "c.5882G>A p.(Gly1961Glu)" "" "Unknown" "yes" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000776400" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Nassisi 2018:30060493}" "" "c.3322C>T p.(Arg1108Cys)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000776401" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Nassisi 2018:30060493}" "" "c.5603A>T p.(Asn1868Ile)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000776402" "2" "70" "1" "94480208" "94480208" "subst" "4.06138E-6" "01695" "ABCA4_001697" "g.94480208A>G" "" "{PMID:Nassisi 2018:30060493}" "" "c.5351T>C p.(Leu1784Pro)" "" "Unknown" "yes" "" "0" "" "" "g.94014652A>G" "" "likely pathogenic (recessive)" ""
"0000776403" "0" "70" "1" "94480178" "94480178" "subst" "2.43692E-5" "01695" "ABCA4_000005" "g.94480178G>T" "" "{PMID:Nassisi 2018:30060493}" "" "c.5381C>A p.(Ala1794Asp)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94014622G>T" "" "likely pathogenic (recessive)" ""
"0000776404" "1" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Nassisi 2018:30060493}" "" "c.5882G>A p.(Gly1961Glu)" "" "Unknown" "yes" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000776405" "2" "90" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Nassisi 2018:30060493}" "" "c.2894A>G p.(Asn965Ser)" "" "Unknown" "yes" "" "0" "" "" "g.94046943T>C" "" "pathogenic (recessive)" ""
"0000776406" "2" "50" "1" "94486888" "94486888" "subst" "3.65548E-5" "01695" "ABCA4_000137" "g.94486888G>C" "" "{PMID:Nassisi 2018:30060493}" "" "c.4926C>G p.(Ser1642Arg)" "" "Unknown" "yes" "" "0" "" "" "g.94021332G>C" "" "VUS" ""
"0000776407" "2" "70" "1" "94485279" "94485293" "del" "0" "01695" "ABCA4_000476" "g.94485279_94485293del" "" "{PMID:Nassisi 2018:30060493}" "" "c.5044_5058del[25] p.(Val1682_Val1686del)+" "" "Unknown" "yes" "" "0" "" "" "g.94019723_94019737del" "" "likely pathogenic (recessive)" ""
"0000776408" "2" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Nassisi 2018:30060493}" "" "c.2588G>C p.(Gly863Ala)" "" "Unknown" "yes" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000776409" "2" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Nassisi 2018:30060493}" "" "c.5603A>T p.(Asn1868Ile)" "" "Unknown" "yes" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000776410" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Nassisi 2018:30060493}" "" "c.5882G>A p.(Gly1961Glu)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000776411" "2" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Nassisi 2018:30060493}" "" "c.3386G>T p.(Arg1129Leu)" "" "Unknown" "yes" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000776412" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Nassisi 2018:30060493}" "" "c.2588G>C p.(Gly863Ala)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000776413" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Nassisi 2018:30060493}" "" "c.5603A>T p.(Asn1868Ile)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000776414" "2" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Nassisi 2018:30060493}" "" "c.5882G>A p.(Gly1961Glu)" "" "Unknown" "yes" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000776415" "2" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Nassisi 2018:30060493}" "" "c.4139C>T p.(Pro1380Leu)" "" "Unknown" "yes" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000776416" "0" "90" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Nassisi 2018:30060493}" "" "c.6320G>A p.(Arg2107His)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94001068C>T" "" "pathogenic (recessive)" ""
"0000776417" "1" "50" "1" "94467548" "94467548" "subst" "0.00295661" "01695" "ABCA4_000788" "g.94467548C>G" "" "{PMID:Nassisi 2018:30060493}" "" "c.6148G>C [25] p.(Val2050Leu)" "" "Unknown" "yes" "" "0" "" "" "g.94001992C>G" "" "VUS" ""
"0000776418" "2" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Nassisi 2018:30060493}" "" "c.5603A>T p.(Asn1868Ile)" "" "Unknown" "yes" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000776419" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Nassisi 2018:30060493}" "" "c.5882G>A p.(Gly1961Glu)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000776420" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Nassisi 2018:30060493}" "" "c.5603A>T p.(Asn1868Ile)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000776421" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Nassisi 2018:30060493}" "" "c.3322C>T p.(Arg1108Cys)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000776422" "0" "90" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Nassisi 2018:30060493}" "" "c.6320G>A p.(Arg2107His)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94001068C>T" "" "pathogenic (recessive)" ""
"0000776423" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Nassisi 2018:30060493}" "" "c.5882G>A p.(Gly1961Glu)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000776424" "2" "50" "1" "94476428" "94476428" "subst" "7.71699E-5" "01695" "ABCA4_000422" "g.94476428G>A" "" "{PMID:Nassisi 2018:30060493}" "" "c.5642C>T p.(Ala1881Val)" "" "Unknown" "yes" "" "0" "" "" "g.94010872G>A" "" "VUS" ""
"0000776425" "1" "70" "1" "94546261" "94546261" "subst" "0.000648567" "01695" "ABCA4_000353" "g.94546261G>A" "" "{PMID:Nassisi 2018:30060493}" "" "c.872C>T p.(Pro291Leu)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94080705G>A" "" "likely pathogenic (recessive)" ""
"0000776426" "2" "70" "1" "94528143" "94528143" "subst" "0.00124448" "01695" "ABCA4_000076" "g.94528143C>T" "" "{PMID:Nassisi 2018:30060493}" "" "c.1927G>A p.(Val643Met)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94062587C>T" "" "likely pathogenic (recessive)" ""
"0000776427" "2" "10" "1" "94505604" "94505604" "subst" "0.00645586" "01695" "ABCA4_000092" "g.94505604A>C" "" "{PMID:Nassisi 2018:30060493}" "" "c.3602T>G p.(Leu1201Arg)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94040048A>C" "" "benign" ""
"0000776428" "2" "70" "1" "94508322" "94508322" "subst" "1.62513E-5" "01695" "ABCA4_000128" "g.94508322C>T" "" "{PMID:Nassisi 2018:30060493}" "" "c.3323G>A p.(Arg1108His)" "" "Unknown" "yes" "" "0" "" "" "g.94042766C>T" "" "likely pathogenic (recessive)" ""
"0000776429" "0" "10" "1" "94505604" "94505604" "subst" "0.00645586" "01695" "ABCA4_000092" "g.94505604A>C" "" "{PMID:Nassisi 2018:30060493}" "" "c.3602T>G p.(Leu1201Arg)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94040048A>C" "" "benign" ""
"0000776430" "0" "70" "1" "94487475" "94487475" "subst" "4.06144E-6" "01695" "ABCA4_001103" "g.94487475G>A" "" "{PMID:Nassisi 2018:30060493}" "" "c.4700C>T p.(Pro1567Leu)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94021919G>A" "" "likely pathogenic (recessive)" ""
"0000776431" "0" "10" "1" "94497563" "94497563" "subst" "0.00492504" "01695" "ABCA4_000090" "g.94497563C>T" "" "{PMID:Nassisi 2018:30060493}" "" "c.3899G>A p.(Arg1300Gln)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94032007C>T" "" "benign" ""
"0000776432" "1" "10" "1" "94463617" "94463617" "subst" "0.0109114" "01695" "ABCA4_000013" "g.94463617C>T" "" "{PMID:Nassisi 2018:30060493}" "" "c.6529G>A p.(Asp2177Asn)" "" "Unknown" "yes" "" "0" "" "" "g.93998061C>T" "" "benign" ""
"0000776433" "2" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Nassisi 2018:30060493}" "" "c.5882G>A p.(Gly1961Glu)" "" "Unknown" "yes" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000776434" "2" "10" "1" "94505604" "94505604" "subst" "0.00645586" "01695" "ABCA4_000092" "g.94505604A>C" "" "{PMID:Nassisi 2018:30060493}" "" "c.3602T>G p.(Leu1201Arg)" "" "Unknown" "yes" "" "0" "" "" "g.94040048A>C" "" "benign" ""
"0000776435" "2" "70" "1" "94476449" "94476449" "subst" "0" "01695" "ABCA4_001030" "g.94476449A>G" "" "{PMID:Nassisi 2018:30060493}" "" "c.5621T>C p.(Leu1874Pro)" "" "Unknown" "yes" "" "0" "" "" "g.94010893A>G" "" "likely pathogenic (recessive)" ""
"0000776436" "1" "90" "1" "94466628" "94466628" "subst" "0.000109748" "01695" "ABCA4_000094" "g.94466628G>A" "" "{PMID:Nassisi 2018:30060493}" "" "c.6316C>T p.(Arg2106Cys)" "" "Unknown" "yes" "" "0" "" "" "g.94001072G>A" "" "pathogenic (recessive)" ""
"0000776437" "2" "90" "1" "94502343" "94502343" "dup" "0" "01695" "ABCA4_000592" "g.94502343dup" "" "{PMID:Nassisi 2018:30060493}" "" "c.3819dup p.(Leu1274Serfs*8)" "" "Unknown" "yes" "" "0" "" "" "g.94036787dup" "" "pathogenic (recessive)" ""
"0000776438" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Nassisi 2018:30060493}" "" "c.6079C>T p.(Leu2027Phe)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic (recessive)" ""
"0000776439" "0" "70" "1" "94466417" "94466417" "subst" "0" "01695" "ABCA4_001573" "g.94466417C>T" "" "{PMID:Nassisi 2018:30060493}" "" "c.6454G>A p.(Gly2152Ser)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94000861C>T" "" "likely pathogenic (recessive)" ""
"0000776440" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Nassisi 2018:30060493}" "" "c.5603A>T p.(Asn1868Ile)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000776441" "0" "70" "1" "94577102" "94577102" "subst" "4.06161E-6" "01695" "ABCA4_000033" "g.94577102C>T" "" "{PMID:Nassisi 2018:30060493}" "" "c.194G>A p.(Gly65Glu)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94111546C>T" "" "likely pathogenic (recessive)" ""
"0000776442" "2" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Nassisi 2018:30060493}" "" "c.5882G>A p.(Gly1961Glu)" "" "Unknown" "yes" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000776443" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Nassisi 2018:30060493}" "" "c.5603A>T p.(Asn1868Ile)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000776444" "0" "50" "1" "94467548" "94467548" "subst" "0.00295661" "01695" "ABCA4_000788" "g.94467548C>G" "" "{PMID:Nassisi 2018:30060493}" "" "c.6148G>C p.(Val2050Leu)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94001992C>G" "" "VUS" ""
"0000776445" "2" "70" "1" "94577010" "94577010" "subst" "1.22004E-5" "01695" "ABCA4_000224" "g.94577010T>C" "" "{PMID:Nassisi 2018:30060493}" "" "c.286A>G p.(Asn96Asp)" "" "Unknown" "yes" "" "0" "" "" "g.94111454T>C" "" "likely pathogenic (recessive)" ""
"0000776446" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Nassisi 2018:30060493}" "" "c.5603A>T p.(Asn1868Ile)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000776447" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Nassisi 2018:30060493}" "" "c.2588G>C p.(Gly863Ala)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000776448" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Nassisi 2018:30060493}" "" "c.5603A>T p.(Asn1868Ile)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000776449" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Nassisi 2018:30060493}" "" "c.3322C>T p.(Arg1108Cys)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000776450" "2" "50" "1" "94526230" "94526230" "subst" "7.32136E-5" "01695" "ABCA4_000760" "g.94526230C>T" "" "{PMID:Nassisi 2018:30060493}" "" "c.2023G>A p.(Val675Ile)" "" "Unknown" "yes" "" "0" "" "" "g.94060674C>T" "" "VUS" ""
"0000776451" "2" "50" "1" "94526230" "94526230" "subst" "7.32136E-5" "01695" "ABCA4_000760" "g.94526230C>T" "" "{PMID:Nassisi 2018:30060493}" "" "c.2023G>A p.(Val675Ile)" "" "Unknown" "yes" "" "0" "" "" "g.94060674C>T" "" "VUS" ""
"0000776452" "0" "90" "1" "94466477" "94466477" "subst" "0" "01695" "ABCA4_001577" "g.94466477C>A" "" "{PMID:Nassisi 2018:30060493}" "" "c.6394G>T p.(Glu2132*)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94000921C>A" "" "pathogenic (recessive)" ""
"0000776453" "0" "90" "1" "94461664" "94461664" "subst" "4.06841E-6" "01695" "ABCA4_000860" "g.94461664C>T" "" "{PMID:Nassisi 2018:30060493}" "" "c.6816+1G>A[6]" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.93996108C>T" "" "pathogenic (recessive)" ""
"0000776454" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Nassisi 2018:30060493}" "" "c.5882G>A p.(Gly1961Glu)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000776455" "0" "90" "1" "94528251" "94528251" "subst" "2.84824E-5" "01695" "ABCA4_000281" "g.94528251C>T" "" "{PMID:Nassisi 2018:30060493}" "" "c.1819G>A p.(Gly607Arg)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94062695C>T" "" "pathogenic (recessive)" ""
"0000776456" "1" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Nassisi 2018:30060493}" "" "c.6079C>T p.(Leu2027Phe)" "" "Unknown" "yes" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic (recessive)" ""
"0000776457" "2" "90" "1" "94466426" "94466426" "subst" "1.62433E-5" "01695" "ABCA4_000124" "g.94466426G>A" "" "{PMID:Nassisi 2018:30060493}" "" "c.6445C>T p.(Arg2149*)" "" "Unknown" "yes" "" "0" "" "" "g.94000870G>A" "" "pathogenic (recessive)" ""
"0000776458" "1" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Nassisi 2018:30060493}" "" "c.6079C>T p.(Leu2027Phe)" "" "Unknown" "yes" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic (recessive)" ""
"0000776459" "2" "90" "1" "94466426" "94466426" "subst" "1.62433E-5" "01695" "ABCA4_000124" "g.94466426G>A" "" "{PMID:Nassisi 2018:30060493}" "" "c.6445C>T p.(Arg2149*)" "" "Unknown" "yes" "" "0" "" "" "g.94000870G>A" "" "pathogenic (recessive)" ""
"0000776460" "2" "70" "1" "94577008" "94577008" "subst" "0" "01695" "ABCA4_000223" "g.94577008G>T" "" "{PMID:Nassisi 2018:30060493}" "" "c.288C>A p.(Asn96Lys)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94111452G>T" "" "likely pathogenic (recessive)" ""
"0000776461" "2" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Nassisi 2018:30060493}" "" "c.5882G>A p.(Gly1961Glu)++" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000776462" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Nassisi 2018:30060493}" "" "c.3113C>T p.(Ala1038Val)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000776463" "1" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Nassisi 2018:30060493}" "" "c.5882G>A p.(Gly1961Glu)" "" "Unknown" "yes" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000776464" "2" "90" "1" "94509026" "94509026" "subst" "4.06497E-5" "01695" "ABCA4_000660" "g.94509026G>A" "" "{PMID:Nassisi 2018:30060493}" "" "c.3056C>T p.(Thr1019Met)" "" "Unknown" "yes" "" "0" "" "" "g.94043470G>A" "" "pathogenic (recessive)" ""
"0000776465" "2" "90" "1" "94544895" "94544895" "subst" "1.62455E-5" "01695" "ABCA4_000329" "g.94544895G>A" "" "{PMID:Nassisi 2018:30060493}" "" "c.1222C>T p.(Arg408*)" "" "Unknown" "yes" "" "0" "" "" "g.94079339G>A" "" "pathogenic (recessive)" ""
"0000776466" "0" "90" "1" "94473789" "94473789" "subst" "0" "01695" "ABCA4_001644" "g.94473789A>G" "" "{PMID:Nassisi 2018:30060493}" "" "c.5898+2T>C p.?" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94008233A>G" "" "pathogenic (recessive)" ""
"0000776467" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Nassisi 2018:30060493}" "" "c.5882G>A p.(Gly1961Glu)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000776468" "1" "90" "1" "94466628" "94466628" "subst" "0.000109748" "01695" "ABCA4_000094" "g.94466628G>A" "" "{PMID:Nassisi 2018:30060493}" "" "c.6316C>T p.(Arg2106Cys)" "" "Unknown" "yes" "" "0" "" "" "g.94001072G>A" "" "pathogenic (recessive)" ""
"0000776469" "2" "70" "1" "94508366" "94508366" "subst" "0" "01695" "ABCA4_000638" "g.94508366G>T" "" "{PMID:Nassisi 2018:30060493}" "" "c.3279C>A p.(Asp1093Glu)" "" "Unknown" "yes" "" "0" "" "" "g.94042810G>T" "" "likely pathogenic (recessive)" ""
"0000776470" "2" "70" "1" "94546261" "94546261" "subst" "0.000648567" "01695" "ABCA4_000353" "g.94546261G>A" "" "{PMID:Nassisi 2018:30060493}" "" "c.872C>T p.(Pro291Leu)" "" "Unknown" "yes" "" "0" "" "" "g.94080705G>A" "" "likely pathogenic (recessive)" ""
"0000776471" "2" "70" "1" "94543269" "94543269" "subst" "0.000179087" "01695" "ABCA4_000307" "g.94543269G>A" "" "{PMID:Nassisi 2018:30060493}" "" "c.1531C>T p.(Arg511Cys)" "" "Unknown" "yes" "" "0" "" "" "g.94077713G>A" "" "likely pathogenic (recessive)" ""
"0000776472" "2" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Nassisi 2018:30060493}" "" "c.5461??10T>C p.[Thr1821Valfs,Thr1821Aspfs]" "" "Unknown" "yes" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000776473" "2" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Nassisi 2018:30060493}" "" "c.5603A>T p.(Asn1868Ile)" "" "Unknown" "yes" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000776474" "0" "90" "1" "94508353" "94508353" "subst" "2.8431E-5" "01695" "ABCA4_000141" "g.94508353G>A" "" "{PMID:Nassisi 2018:30060493}" "" "c.3292C>T p.(Arg1098Cys)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94042797G>A" "" "pathogenic (recessive)" ""
"0000776475" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Salles 2018:30093795}" "" "c.1804C>T p.Arg602Trp" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94062710G>A" "" "pathogenic (recessive)" ""
"0000776476" "0" "90" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Salles 2018:30093795}" "" "c.6320G>A p.Arg2107His" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94001068C>T" "" "pathogenic (recessive)" ""
"0000776477" "0" "90" "1" "94473189" "94473189" "subst" "0" "01695" "ABCA4_000385" "g.94473189C>A" "" "{PMID:Salles 2018:30093795}" "" "c.6005+1G>T p.?" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94007633C>A" "" "pathogenic (recessive)" ""
"0000776478" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Salles 2018:30093795}" "" "c.1804C>T p.Arg602Trp" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94062710G>A" "" "pathogenic (recessive)" ""
"0000776479" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Salles 2018:30093795}" "" "c.1804C>T p.Arg602Trp" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94062710G>A" "" "pathogenic (recessive)" ""
"0000776480" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Salles 2018:30093795}" "" "c.1804C>T p.Arg602Trp" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94062710G>A" "" "pathogenic (recessive)" ""
"0000776481" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Salles 2018:30093795}" "" "c.1804C>T p.Arg602Trp" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94062710G>A" "" "pathogenic (recessive)" ""
"0000776482" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Salles 2018:30093795}" "" "c.1804C>T p.Arg602Trp" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94062710G>A" "" "pathogenic (recessive)" ""
"0000776483" "0" "90" "1" "94471056" "94471056" "subst" "2.84398E-5" "01695" "ABCA4_000050" "g.94471056G>A" "" "{PMID:Salles 2018:30093795}" "" "c.6088C>T p.Arg2030*" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94005500G>A" "" "pathogenic (recessive)" ""
"0000776484" "0" "50" "1" "94564460" "94564460" "subst" "8.1355E-6" "01695" "ABCA4_000056" "g.94564460G>A" "" "{PMID:Salles 2018:30093795}" "" "c.658C>T p.Arg220Cys" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94098904G>A" "" "VUS" ""
"0000776485" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Salles 2018:30093795}" "" "c.1804C>T p.Arg602Trp" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94062710G>A" "" "pathogenic (recessive)" ""
"0000776486" "1" "70" "1" "94485279" "94485293" "del" "0" "01695" "ABCA4_000476" "g.94485279_94485293del" "" "{PMID:Salles 2018:30093795}" "" "c.4926C>G c.5044_5058del15‡ p.Ser1642Arg p.Val1682_Val1686del‡" "" "Unknown" "yes" "" "0" "" "" "g.94019723_94019737del" "" "likely pathogenic (recessive)" ""
"0000776487" "2" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Salles 2018:30093795}" "" "c.5882G>A p.Gly1961Glu" "" "Unknown" "yes" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000776488" "1" "70" "1" "94485279" "94485293" "del" "0" "01695" "ABCA4_000476" "g.94485279_94485293del" "" "{PMID:Salles 2018:30093795}" "" "c.4926C>G c.5044_5058del15‡ p.Ser1642Arg p.Val1682_Val1686del‡" "" "Unknown" "yes" "" "0" "" "" "g.94019723_94019737del" "" "likely pathogenic (recessive)" ""
"0000776489" "2" "90" "1" "94509026" "94509026" "subst" "4.06497E-5" "01695" "ABCA4_000660" "g.94509026G>A" "" "{PMID:Salles 2018:30093795}" "" "c.3056C>T p.Thr1019Met" "" "Unknown" "yes" "" "0" "" "" "g.94043470G>A" "" "pathogenic (recessive)" ""
"0000776490" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Salles 2018:30093795}" "" "c.4328G>A c.1622T>C p.Leu541Pro p.Arg1443His" "" "Unknown" "yes" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000776491" "2" "70" "1" "94514424" "94514424" "subst" "4.06105E-6" "01695" "ABCA4_000972" "g.94514424C>T" "" "{PMID:Salles 2018:30093795}" "" "c.2743G>A p.Asp915Asn" "" "Unknown" "yes" "" "0" "" "" "g.94048868C>T" "" "likely pathogenic (recessive)" ""
"0000776492" "1" "70" "1" "94485279" "94485293" "del" "0" "01695" "ABCA4_000476" "g.94485279_94485293del" "" "{PMID:Salles 2018:30093795}" "" "c.4926C>G c.5044_5058del15‡ p.Ser1642Arg p.Val1682_Val1686del‡" "" "Unknown" "yes" "" "0" "" "" "g.94019723_94019737del" "" "likely pathogenic (recessive)" ""
"0000776493" "2" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Salles 2018:30093795}" "" "c.1804C>T p.Arg602Trp" "" "Unknown" "yes" "" "0" "" "" "g.94062710G>A" "" "pathogenic (recessive)" ""
"0000776494" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Salles 2018:30093795}" "" "c.1622T>C c.3113C>T p.Leu541Pro p.Ala1038Val" "" "Unknown" "yes" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000776495" "2" "90" "1" "94506960" "94506960" "subst" "8.12334E-6" "01695" "ABCA4_001912" "g.94506960T>A" "" "{PMID:Salles 2018:30093795}" "" "c.3329–2A>T p.?" "" "Unknown" "yes" "" "0" "" "" "g.94041404T>A" "" "pathogenic (recessive)" ""
"0000776496" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Salles 2018:30093795}" "" "c.1622T>C c.3113C>T p.Leu541Pro p.Ala1038Val" "" "Unknown" "yes" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000776497" "2" "90" "1" "94506960" "94506960" "subst" "8.12334E-6" "01695" "ABCA4_001912" "g.94506960T>A" "" "{PMID:Salles 2018:30093795}" "" "c.3329–2A>T p.?" "" "Unknown" "yes" "" "0" "" "" "g.94041404T>A" "" "pathogenic (recessive)" ""
"0000776498" "1" "70" "1" "94485279" "94485293" "del" "0" "01695" "ABCA4_000476" "g.94485279_94485293del" "" "{PMID:Salles 2018:30093795}" "" "c.4926C>G c.5044_5058del15‡ p.Ser1642Arg p.Val1682_Val1686del‡" "" "Unknown" "yes" "" "0" "" "" "g.94019723_94019737del" "" "likely pathogenic (recessive)" ""
"0000776499" "2" "70" "1" "94495996" "94495996" "subst" "0" "01695" "ABCA4_001824" "g.94495996T>A" "" "{PMID:Salles 2018:30093795}" "" "c.4340A>T p.Glu1447Val" "" "Unknown" "yes" "" "0" "" "" "g.94030440T>A" "" "likely pathogenic (recessive)" ""
"0000776500" "1" "50" "1" "94496008" "94496008" "subst" "2.03056E-5" "01695" "ABCA4_000148" "g.94496008C>T" "" "{PMID:Salles 2018:30093795}" "" "c.1622T>C c.4328G>A p.Leu541Pro p.Arg1443His" "" "Unknown" "yes" "" "0" "" "" "g.94030452C>T" "" "VUS" ""
"0000776501" "2" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Salles 2018:30093795}" "" "c.1804C>T p.Arg602Trp" "" "Unknown" "yes" "" "0" "" "" "g.94062710G>A" "" "pathogenic (recessive)" ""
"0000776502" "0" "50" "1" "94514477" "94514477" "subst" "0.00118992" "01695" "ABCA4_000700" "g.94514477G>A" "" "{PMID:Salles 2018:30093795}" "" "c.868C>T c.2690C>T p.Arg290Trp p.Thr897Ile" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94048921G>A" "" "VUS" ""
"0000776503" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Salles 2018:30093795}" "" "c.5882G>A p.Gly1961Glu" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000776504" "1" "70" "1" "94485279" "94485293" "del" "0" "01695" "ABCA4_000476" "g.94485279_94485293del" "" "{PMID:Salles 2018:30093795}" "" "c.4926C>G c.5044_5058del15‡ p.Ser1642Arg p.Val1682_Val1686del‡" "" "Unknown" "yes" "" "0" "" "" "g.94019723_94019737del" "" "likely pathogenic (recessive)" ""
"0000776505" "2" "50" "1" "94512602" "94512602" "subst" "0.000369717" "01695" "ABCA4_000052" "g.94512602C>T" "" "{PMID:Salles 2018:30093795}" "" "c.2791G>A p.Val931Met" "" "Unknown" "yes" "" "0" "" "" "g.94047046C>T" "" "VUS" ""
"0000776506" "1" "50" "1" "94496008" "94496008" "subst" "2.03056E-5" "01695" "ABCA4_000148" "g.94496008C>T" "" "{PMID:Salles 2018:30093795}" "" "c.1622T>C c.4328G>A p.Leu541Pro p.Arg1443His" "" "Unknown" "yes" "" "0" "" "" "g.94030452C>T" "" "VUS" ""
"0000776507" "2" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Salles 2018:30093795}" "" "c.3386G>T p.Arg1129Leu" "" "Unknown" "yes" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000776508" "1" "70" "1" "94485279" "94485293" "del" "0" "01695" "ABCA4_000476" "g.94485279_94485293del" "" "{PMID:Salles 2018:30093795}" "" "c.4926C>G c.5044_5058del15‡ p.Ser1642Arg p.Val1682_Val1686del‡" "" "Unknown" "yes" "" "0" "" "" "g.94019723_94019737del" "" "likely pathogenic (recessive)" ""
"0000776509" "2" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Salles 2018:30093795}" "" "c.1622T>C p.Leu541Pro" "" "Unknown" "yes" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000776510" "2" "70" "1" "94467446" "94467446" "subst" "0" "01695" "ABCA4_001595" "g.94467446C>G" "" "{PMID:Salles 2018:30093795}" "" "c.6250G>C p.Ala2084Pro" "" "Unknown" "yes" "" "0" "" "" "g.94001890C>G" "" "likely pathogenic (recessive)" ""
"0000776511" "2" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Salles 2018:30093795}" "" "c.3113C>T p. Ala1038Val" "" "Unknown" "yes" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000776512" "1" "90" "1" "94466628" "94466628" "subst" "0.000109748" "01695" "ABCA4_000094" "g.94466628G>A" "" "{PMID:Salles 2018:30093795}" "" "c.5282C>G c.6316C>T p.Pro1761Arg p.Arg2106Cys" "" "Unknown" "yes" "" "0" "" "" "g.94001072G>A" "" "pathogenic (recessive)" ""
"0000776513" "2" "90" "1" "94522194" "94522194" "subst" "0" "01695" "ABCA4_000733" "g.94522194C>T" "" "{PMID:Salles 2018:30093795}" "" "c.2345G>A p.Trp782*" "" "Unknown" "yes" "" "0" "" "" "g.94056638C>T" "" "pathogenic (recessive)" ""
"0000776514" "2" "70" "1" "94480178" "94480178" "subst" "2.43692E-5" "01695" "ABCA4_000005" "g.94480178G>T" "" "{PMID:Salles 2018:30093795}" "" "c.5381C>A p.Ala1794Asp" "" "Unknown" "yes" "" "0" "" "" "g.94014622G>T" "" "likely pathogenic (recessive)" ""
"0000776515" "1" "70" "1" "94485279" "94485293" "del" "0" "01695" "ABCA4_000476" "g.94485279_94485293del" "" "{PMID:Salles 2018:30093795}" "" "c.4926C>G c.5044_5058del15‡ p.Ser1642Arg p.Val1682_Val1686del‡" "" "Unknown" "yes" "" "0" "" "" "g.94019723_94019737del" "" "likely pathogenic (recessive)" ""
"0000776516" "2" "70" "1" "94586536" "94586536" "subst" "0" "01695" "ABCA4_002247" "g.94586536C>A" "" "{PMID:Salles 2018:30093795}" "" "c.66G>T p.Lys22Asn" "" "Unknown" "yes" "" "0" "" "" "g.94120980C>A" "" "likely pathogenic (recessive)" ""
"0000776517" "2" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Salles 2018:30093795}" "" "c.3386G>T p.Arg1129Leu" "" "Unknown" "yes" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000776518" "1" "70" "1" "94485279" "94485293" "del" "0" "01695" "ABCA4_000476" "g.94485279_94485293del" "" "{PMID:Salles 2018:30093795}" "" "c.1622T>C c.4328G>A p.Leu541Pro p.Arg1443His" "" "Unknown" "yes" "" "0" "" "" "g.94019723_94019737del" "" "likely pathogenic (recessive)" ""
"0000776519" "2" "70" "1" "94577010" "94577010" "subst" "1.22004E-5" "01695" "ABCA4_000224" "g.94577010T>C" "" "{PMID:Salles 2018:30093795}" "" "c.286A>G p.Asn96Asp" "" "Unknown" "yes" "" "0" "" "" "g.94111454T>C" "" "likely pathogenic (recessive)" ""
"0000776520" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Salles 2018:30093795}" "" "c.5882 G>A c.3113 C>T p.Gly1961Glu p.Ala1038Val" "" "Unknown" "yes" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000776521" "2" "70" "1" "94543436" "94543436" "subst" "0" "01695" "ABCA4_002121" "g.94543436A>T" "" "{PMID:Salles 2018:30093795}" "" "c.1364T>A p.Leu455Gln" "" "Unknown" "yes" "" "0" "" "" "g.94077880A>T" "" "likely pathogenic (recessive)" ""
"0000776522" "1" "90" "1" "94466628" "94466628" "subst" "0.000109748" "01695" "ABCA4_000094" "g.94466628G>A" "" "{PMID:Salles 2018:30093795}" "" "c.5282C>G c.6316C>T p.Pro1761Arg p.Arg2106Cys" "" "Unknown" "yes" "" "0" "" "" "g.94001072G>A" "" "pathogenic (recessive)" ""
"0000776523" "2" "90" "1" "94522194" "94522194" "subst" "0" "01695" "ABCA4_000733" "g.94522194C>T" "" "{PMID:Salles 2018:30093795}" "" "c.2345G>A p.Trp782*" "" "Unknown" "yes" "" "0" "" "" "g.94056638C>T" "" "pathogenic (recessive)" ""
"0000776524" "2" "70" "1" "94480178" "94480178" "subst" "2.43692E-5" "01695" "ABCA4_000005" "g.94480178G>T" "" "{PMID:Salles 2018:30093795}" "" "c.5381C>A p.Ala1794Asp" "" "Unknown" "yes" "" "0" "" "" "g.94014622G>T" "" "likely pathogenic (recessive)" ""
"0000776525" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Salles 2018:30093795}" "" "c.1622T>C c.3113C>T p.Leu541Pro p.Ala1038Val" "" "Unknown" "yes" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000776526" "2" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Salles 2018:30093795}" "" "c.5882G>A p.Gly1961Glu" "" "Unknown" "yes" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000776527" "2" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Zuazo 2018:30156925}" "" "Arg1129Leu" "" "Unknown" "yes" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000776528" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Zuazo 2018:30156925}" "" "Gly1961Glu" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000776529" "2" "70" "1" "94473791" "94473791" "subst" "0" "01695" "ABCA4_001026" "g.94473791C>T" "" "{PMID:González-del Pozo 2018:30190494}" "" "c.5898G > A" "" "Unknown" "yes" "" "0" "" "" "g.94008235C>T" "" "likely pathogenic (recessive)" ""
"0000776530" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Collison 2019:30204727}" "" "c.[1622T.C;3113C.T] (p.[L541P;A1038V])" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000776531" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Collison 2019:30204727}" "" "c.[1622T.C;3113C.T] (p.[L541P;A1038V])" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000776532" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Collison 2019:30204727}" "" "c.[1622T.C; 3113C.T] (p.[L541P;A1038V])" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000776533" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Collison 2019:30204727}" "" "c.[1622T.C; 3113C.T] (p.[L541P;A1038V])" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000776534" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Collison 2019:30204727}" "" "c.[1622T.C; 3113C.T] (p.[L541P;A1038V])" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000776535" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Collison 2019:30204727}" "" "c.[1622T.C; 3113C.T] (p.[L541P;A1038V])" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000776536" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Collison 2019:30204727}" "" "c.[1622T.C; 3113C.T] (p.[L541P;A1038V])" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000776537" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Collison 2019:30204727}" "" "c.[1622T.C; 3113C.T] (p.[L541P;A1038V])" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000776538" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Collison 2019:30204727}" "" "c.4139C.T (p.P1380L)" "" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000776539" "0" "90" "1" "94526296" "94526296" "subst" "1.64555E-5" "01695" "ABCA4_000768" "g.94526296G>A" "" "{PMID:Collison 2019:30204727}" "" "c.1957C.T (p.R653C)" "" "Unknown" "" "" "0" "" "" "g.94060740G>A" "" "pathogenic (recessive)" ""
"0000776540" "0" "70" "1" "94467467" "94467467" "subst" "4.06164E-6" "01695" "ABCA4_000095" "g.94467467G>C" "" "{PMID:Collison 2019:30204727}" "" "c.6229C.G (p.R2077W)" "" "Unknown" "" "" "0" "" "" "g.94001911G>C" "" "likely pathogenic (recessive)" ""
"0000776541" "0" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "" "{PMID:Collison 2019:30204727}" "" "c.[4469G.A; 5603A.T] (p.[C1490Y;N1868I])" "" "Unknown" "" "" "0" "" "" "g.94029515C>T" "" "likely pathogenic (recessive)" ""
"0000776542" "3" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Collison 2019:30204727}" "" "c.[4469G.A; 5603A.T] (p.[C1490Y;N1868I])" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000776543" "0" "90" "1" "94508386" "94508386" "subst" "1.62443E-5" "01695" "ABCA4_000642" "g.94508386C>T" "" "{PMID:Collison 2019:30204727}" "" "c.3259G.A (p.E1087K)" "" "Unknown" "" "" "0" "" "" "g.94042830C>T" "" "pathogenic (recessive)" ""
"0000776544" "0" "90" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Collison 2019:30204727}" "" "c.2894A.G (p.N965S)" "" "Unknown" "" "" "0" "" "" "g.94046943T>C" "" "pathogenic (recessive)" ""
"0000776545" "0" "70" "1" "94473272" "94473272" "subst" "0" "01695" "ABCA4_000390" "g.94473272C>G" "" "{PMID:Collison 2019:30204727}" "" "c.5923G.C (p.G1975R)" "" "Unknown" "" "" "0" "" "" "g.94007716C>G" "" "likely pathogenic (recessive)" ""
"0000776546" "0" "90" "1" "94508384" "94508384" "subst" "0" "01695" "ABCA4_000641" "g.94508384T>G" "" "{PMID:Collison 2019:30204727}" "" "c.3261A.C (p.E1087D)" "" "Unknown" "" "" "0" "" "" "g.94042828T>G" "" "pathogenic (recessive)" ""
"0000776547" "0" "90" "1" "94577136" "94577136" "subst" "0" "01695" "ABCA4_000116" "g.94577136C>T" "" "{PMID:Collison 2019:30204727}" "" "c.161-1G.A (p.?)" "" "Unknown" "" "" "0" "" "" "g.94111580C>T" "" "pathogenic (recessive)" ""
"0000776548" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Collison 2019:30204727}" "" "c.[5461-10T.C; 5603A.T] (p.[?;N1868I])" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000776549" "3" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Collison 2019:30204727}" "" "c.[5461-10T.C; 5603A.T] (p.[?;N1868I])" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000776550" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Collison 2019:30204727}" "" "c.[5461-10T.C; 5603A.T] (p.[?;N1868I])" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000776551" "3" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Collison 2019:30204727}" "" "c.[5461-10T.C; 5603A.T] (p.[?;N1868I])" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000776552" "0" "90" "1" "94485137" "94485137" "subst" "0" "01695" "ABCA4_000464" "g.94485137C>T" "" "{PMID:Collison 2019:30204727}" "" "c.5196+1G.A (p.?)" "" "Unknown" "" "" "0" "" "" "g.94019581C>T" "" "pathogenic (recessive)" ""
"0000776553" "0" "90" "1" "94485137" "94485137" "subst" "0" "01695" "ABCA4_000464" "g.94485137C>T" "" "{PMID:Collison 2019:30204727}" "" "c.5196+1G.A (p.?)" "" "Unknown" "" "" "0" "" "" "g.94019581C>T" "" "pathogenic (recessive)" ""
"0000776554" "0" "90" "1" "94528164" "94528164" "subst" "2.03336E-5" "01695" "ABCA4_000267" "g.94528164G>A" "" "{PMID:Collison 2019:30204727}" "" "c.1906C.T (p.Q636*)" "" "Unknown" "" "" "0" "" "" "g.94062608G>A" "" "pathogenic (recessive)" ""
"0000776555" "0" "90" "1" "94467530" "94467530" "subst" "0" "01695" "ABCA4_001448" "g.94467530T>A" "" "{PMID:Collison 2019:30204727}" "" "c.6166A.T (p.K2056*)" "" "Unknown" "" "" "0" "" "" "g.94001974T>A" "" "pathogenic (recessive)" ""
"0000776556" "0" "90" "1" "94546105" "94546106" "del" "0" "01695" "ABCA4_002146" "g.94546105_94546106del" "" "{PMID:Collison 2019:30204727}{PMID:Zernant 2017:28446513}" "" "c.[1027_1028del; 5603A.T] (p.[N343*; N1868I])" "" "Unknown" "" "" "0" "" "" "g.94080549_94080550del" "" "pathogenic (recessive)" ""
"0000776557" "3" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Collison 2019:30204727}{PMID:Zernant 2017:28446513}" "" "c.[1027_1028del; 5603A.T] (p.[N343*; N1868I])" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000776558" "0" "90" "1" "94496571" "94496571" "subst" "4.06174E-6" "01695" "ABCA4_000111" "g.94496571G>A" "" "{PMID:Collison 2019:30204727}" "" "c.4234C.T (p.Q1412*)" "" "Unknown" "" "" "0" "" "" "g.94031015G>A" "" "pathogenic (recessive)" ""
"0000776559" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Saatci 2018:30186147}" "" "p.G1961E (c.5885 G>A)" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000776560" "11" "70" "1" "94463424" "94463424" "subst" "0" "01695" "ABCA4_001562" "g.94463424A>G" "" "{PMID:Xiang 2019:30563929}" "" "(c.3607G>T and c.6722T>C)" "" "Unknown" "yes" "" "0" "" "" "g.93997868A>G" "" "likely pathogenic (recessive)" ""
"0000776561" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Claassen 2019:30634128}" "" "c.[5461-10 T > C];[4139C > T]" "" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000776562" "2" "70" "1" "94549781" "94549781" "subst" "0" "01695" "ABCA4_001046" "g.94549781G>A" "" "{PMID:Sangermano 2019:30643219} {PMID:Runhart 2019:31618761}" "" "c.[769-784C>T;5603A>T] p.[=,Leu257Aspfs*3;Asn1868Ile]b" "variant activates pseudo-exon branch point" "Unknown" "yes" "" "0" "" "" "g.94084225G>A" "" "likely pathogenic (recessive)" ""
"0000776563" "2" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Sangermano 2019:30643219} {PMID:Runhart 2019:31618761}" "" "c.[769-784C>T;5603A>T] p.[=,Leu257Aspfs*3;Asn1868Ile]b" "" "Unknown" "yes" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000776564" "2" "70" "1" "94546780" "94546780" "subst" "0" "01695" "ABCA4_001271" "g.94546780C>G" "" "{PMID:Sangermano 2019:30643219}" "" "c.859-506G>C p.[Phe287Thrfs*32,=]b" "" "Unknown" "yes" "" "0" "" "" "g.94081224C>G" "" "likely pathogenic (recessive)" ""
"0000776565" "2" "70" "1" "94549781" "94549781" "subst" "0" "01695" "ABCA4_001046" "g.94549781G>A" "" "{PMID:Sangermano 2019:30643219} {PMID:Runhart 2019:31618761}" "" "c.[769-784C>T;5603A>T] p.[=,Leu257Aspfs*3;Asn1868Ile]b" "variant activates pseudo-exon branch point" "Unknown" "yes" "" "0" "" "" "g.94084225G>A" "" "likely pathogenic (recessive)" ""
"0000776566" "2" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Sangermano 2019:30643219} {PMID:Runhart 2019:31618761}" "" "c.[769-784C>T;5603A>T] p.[=,Leu257Aspfs*3;Asn1868Ile]b" "" "Unknown" "yes" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000776567" "2" "70" "1" "94496509" "94496509" "subst" "0.00475243" "01695" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Sangermano 2019:30643219} {PMID:Runhart 2019:31618761}" "" "c.[4253+43G>A;6006-609T>A] p.[=,Ile1377Hisfs*3]b" "" "Unknown" "yes" "" "0" "" "" "g.94030953C>T" "" "likely pathogenic (recessive)" ""
"0000776568" "2" "50" "1" "94471747" "94471747" "subst" "0" "01695" "ABCA4_000882" "g.94471747A>T" "" "{PMID:Sangermano 2019:30643219} {PMID:Runhart 2019:31618761}" "" "c.[4253+43G>A;6006-609T>A] p.[=,Ile1377Hisfs*3]b" "" "Unknown" "yes" "" "0" "" "" "g.94006191A>T" "" "VUS" ""
"0000776569" "1" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Sangermano 2019:30643219}" "" "c.[818G>A;5603A>T] p.[Trp273*;Asn1868Ile]" "" "Unknown" "yes" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000776570" "2" "90" "1" "94493901" "94493901" "subst" "0" "01695" "ABCA4_001288" "g.94493901T>C" "" "{PMID:Sangermano 2019:30643219}" "" "c.4539+1100A>G p.[Arg1514Valfs*31,Arg1514Glyfs*3, =]b" "" "Unknown" "yes" "" "0" "" "" "g.94028345T>C" "" "pathogenic (recessive)" ""
"0000776571" "2" "70" "1" "94496509" "94496509" "subst" "0.00475243" "01695" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Sangermano 2019:30643219} {PMID:Runhart 2019:31618761}" "" "c.[4253+43G>A;6006-609T>A] p.[=,Ile1377Hisfs*3]b" "" "Unknown" "yes" "" "0" "" "" "g.94030953C>T" "" "likely pathogenic (recessive)" ""
"0000776572" "2" "50" "1" "94471747" "94471747" "subst" "0" "01695" "ABCA4_000882" "g.94471747A>T" "" "{PMID:Sangermano 2019:30643219} {PMID:Runhart 2019:31618761}" "" "c.[4253+43G>A;6006-609T>A] p.[=,Ile1377Hisfs*3]b" "" "Unknown" "yes" "" "0" "" "" "g.94006191A>T" "" "VUS" ""
"0000776573" "2" "70" "1" "94496509" "94496509" "subst" "0.00475243" "01695" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Sangermano 2019:30643219} {PMID:Runhart 2019:31618761}" "" "c.[4253+43G>A;6006-609T>A] p.[=,Ile1377Hisfs*3]b" "" "Unknown" "yes" "" "0" "" "" "g.94030953C>T" "" "likely pathogenic (recessive)" ""
"0000776574" "2" "50" "1" "94471747" "94471747" "subst" "0" "01695" "ABCA4_000882" "g.94471747A>T" "" "{PMID:Sangermano 2019:30643219} {PMID:Runhart 2019:31618761}" "" "c.[4253+43G>A;6006-609T>A] p.[=,Ile1377Hisfs*3]b" "" "Unknown" "yes" "" "0" "" "" "g.94006191A>T" "" "VUS" ""
"0000776575" "1" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Sangermano 2019:30643219} {PMID:Runhart 2019:31618761}" "" "c.[5461-10T>C;5603A>T] p.[Thr1821Valfs*13,Thr1821Aspfs*6;Asn1868Ile]" "" "Unknown" "yes" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000776576" "2" "70" "1" "94496509" "94496509" "subst" "0.00475243" "01695" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Sangermano 2019:30643219} {PMID:Runhart 2019:31618761}" "" "c.[4253+43G>A;6006-609T>A] p.[=,Ile1377Hisfs*3]b" "" "Unknown" "yes" "" "0" "" "" "g.94030953C>T" "" "likely pathogenic (recessive)" ""
"0000776577" "2" "50" "1" "94471747" "94471747" "subst" "0" "01695" "ABCA4_000882" "g.94471747A>T" "" "{PMID:Sangermano 2019:30643219} {PMID:Runhart 2019:31618761}" "" "c.[4253+43G>A;6006-609T>A] p.[=,Ile1377Hisfs*3]b" "" "Unknown" "yes" "" "0" "" "" "g.94006191A>T" "" "VUS" ""
"0000776578" "2" "70" "1" "94549781" "94549781" "subst" "0" "01695" "ABCA4_001046" "g.94549781G>A" "" "{PMID:Sangermano 2019:30643219} {PMID:Runhart 2019:31618761}" "" "c.[769-784C>T;5603A>T] p.[=,Leu257Aspfs*3;Asn1868Ile]b" "variant activates pseudo-exon branch point" "Unknown" "yes" "" "0" "" "" "g.94084225G>A" "" "likely pathogenic (recessive)" ""
"0000776579" "2" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Sangermano 2019:30643219} {PMID:Runhart 2019:31618761}" "" "c.[769-784C>T;5603A>T] p.[=,Leu257Aspfs*3;Asn1868Ile]b" "" "Unknown" "yes" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000776580" "2" "70" "1" "94496509" "94496509" "subst" "0.00475243" "01695" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Sangermano 2019:30643219} {PMID:Runhart 2019:31618761}" "" "c.[4253+43G>A;6006-609T>A] p.[=,Ile1377Hisfs*3]b" "" "Unknown" "yes" "" "0" "" "" "g.94030953C>T" "" "likely pathogenic (recessive)" ""
"0000776581" "2" "50" "1" "94471747" "94471747" "subst" "0" "01695" "ABCA4_000882" "g.94471747A>T" "" "{PMID:Sangermano 2019:30643219} {PMID:Runhart 2019:31618761}" "" "c.[4253+43G>A;6006-609T>A] p.[=,Ile1377Hisfs*3]b" "" "Unknown" "yes" "" "0" "" "" "g.94006191A>T" "" "VUS" ""
"0000776582" "2" "70" "1" "94549781" "94549781" "subst" "0" "01695" "ABCA4_001046" "g.94549781G>A" "" "{PMID:Sangermano 2019:30643219} {PMID:Runhart 2019:31618761}" "" "c.[769-784C>T;5603A>T] p.[=,Leu257Aspfs*;Asn1868Ile]b" "variant activates pseudo-exon branch point" "Unknown" "yes" "" "0" "" "" "g.94084225G>A" "" "likely pathogenic (recessive)" ""
"0000776583" "2" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Sangermano 2019:30643219} {PMID:Runhart 2019:31618761}" "" "c.[769-784C>T;5603A>T] p.[=,Leu257Aspfs*;Asn1868Ile]b" "" "Unknown" "yes" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000776584" "2" "70" "1" "94549781" "94549781" "subst" "0" "01695" "ABCA4_001046" "g.94549781G>A" "" "{PMID:Sangermano 2019:30643219} {PMID:Runhart 2019:31618761}" "" "c.[769-784C>T;5603A>T] p.[=,Leu257Aspfs*;Asn1868Ile]b" "variant activates pseudo-exon branch point" "Unknown" "yes" "" "0" "" "" "g.94084225G>A" "" "likely pathogenic (recessive)" ""
"0000776585" "3" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Sangermano 2019:30643219} {PMID:Runhart 2019:31618761}" "" "c.[5461-10T>C;5603A>T] p.[Thr1821Valfs*13,Thr1821Aspfs*6;Asn1868Ile]" "" "Unknown" "yes" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000776586" "2" "70" "1" "94496509" "94496509" "subst" "0.00475243" "01695" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Sangermano 2019:30643219} {PMID:Runhart 2019:31618761}" "" "c.[4253+43G>A;5603A>T] p.[=,Ile1377Hisfs*3;Asn1868Ile]b" "" "Unknown" "yes" "" "0" "" "" "g.94030953C>T" "" "likely pathogenic (recessive)" ""
"0000776587" "2" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Sangermano 2019:30643219} {PMID:Runhart 2019:31618761}" "" "c.[4253+43G>A;5603A>T] p.[=,Ile1377Hisfs*3;Asn1868Ile]b" "" "Unknown" "yes" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000776588" "2" "70" "1" "94496509" "94496509" "subst" "0.00475243" "01695" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Sangermano 2019:30643219} {PMID:Runhart 2019:31618761}" "" "c.[4253+43G>A;6006-609T>A] p.[=,Ile1377Hisfs*3]b" "" "Unknown" "yes" "" "0" "" "" "g.94030953C>T" "" "likely pathogenic (recessive)" ""
"0000776589" "2" "50" "1" "94471747" "94471747" "subst" "0" "01695" "ABCA4_000882" "g.94471747A>T" "" "{PMID:Sangermano 2019:30643219} {PMID:Runhart 2019:31618761}" "" "c.[4253+43G>A;6006-609T>A] p.[=,Ile1377Hisfs*3]b" "" "Unknown" "yes" "" "0" "" "" "g.94006191A>T" "" "VUS" ""
"0000776590" "2" "70" "1" "94546780" "94546780" "subst" "0" "01695" "ABCA4_001271" "g.94546780C>G" "" "{PMID:Sangermano 2019:30643219}" "" "c.859-506G>C p.[Phe287Thrfs*32,=]b" "" "Unknown" "yes" "" "0" "" "" "g.94081224C>G" "" "likely pathogenic (recessive)" ""
"0000776591" "2" "70" "1" "94546780" "94546780" "subst" "0" "01695" "ABCA4_001271" "g.94546780C>G" "" "{PMID:Sangermano 2019:30643219}" "" "c.859-506G>C p.[Phe287Thrfs*32,=]b" "" "Unknown" "yes" "" "0" "" "" "g.94081224C>G" "" "likely pathogenic (recessive)" ""
"0000776592" "2" "70" "1" "94549781" "94549781" "subst" "0" "01695" "ABCA4_001046" "g.94549781G>A" "" "{PMID:Sangermano 2019:30643219} {PMID:Runhart 2019:31618761}" "" "c.[769-784C>T;5603A>T] p.[=,Leu257Aspfs*3;Asn1868Ile]b" "variant activates pseudo-exon branch point" "Unknown" "yes" "" "0" "" "" "g.94084225G>A" "" "likely pathogenic (recessive)" ""
"0000776593" "2" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Sangermano 2019:30643219} {PMID:Runhart 2019:31618761}" "" "c.[769-784C>T;5603A>T] p.[=,Leu257Aspfs*3;Asn1868Ile]b" "" "Unknown" "yes" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000776594" "0" "70" "1" "94496509" "94496509" "subst" "0.00475243" "01695" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Sangermano 2019:30643219}" "" "c.[4253+43G>A;6006-609T>A] p.[=,Ile1377Hisfs*3]b" "" "Unknown" "" "" "0" "" "" "g.94030953C>T" "" "likely pathogenic (recessive)" ""
"0000776595" "0" "50" "1" "94471747" "94471747" "subst" "0" "01695" "ABCA4_000882" "g.94471747A>T" "" "{PMID:Sangermano 2019:30643219}" "" "c.[4253+43G>A;6006-609T>A] p.[=,Ile1377Hisfs*3]b" "" "Unknown" "" "" "0" "" "" "g.94006191A>T" "" "VUS" ""
"0000776596" "0" "70" "1" "94549781" "94549781" "subst" "0" "01695" "ABCA4_001046" "g.94549781G>A" "" "{PMID:Sangermano 2019:30643219}" "" "c.[769-784C>T;5603A>T] p.[=,Leu257Aspfs*3;Asn1868Ile]b" "variant activates pseudo-exon branch point" "Unknown" "" "" "0" "" "" "g.94084225G>A" "" "likely pathogenic (recessive)" ""
"0000776597" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Sangermano 2019:30643219}" "" "c.[769-784C>T;5603A>T] p.[=,Leu257Aspfs*3;Asn1868Ile]b" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000776598" "2" "70" "1" "94527698" "94527698" "subst" "0" "01695" "ABCA4_001310" "g.94527698G>C" "" "{PMID:Sangermano 2019:30643219}" "" "c.1937+435C>G p.[=,Ser646Serfs*25]b" "" "Unknown" "yes" "" "0" "" "" "g.94062142G>C" "" "likely pathogenic (recessive)" ""
"0000776599" "0" "70" "1" "94527698" "94527698" "subst" "0" "01695" "ABCA4_001310" "g.94527698G>C" "" "{PMID:Sangermano 2019:30643219}" "" "c.1937+435C>G p.[=,Ser646Serfs*25]b" "" "Unknown" "" "" "0" "" "" "g.94062142G>C" "" "likely pathogenic (recessive)" ""
"0000776600" "0" "90" "1" "94493901" "94493901" "subst" "0" "01695" "ABCA4_001288" "g.94493901T>C" "" "{PMID:Sangermano 2019:30643219}" "" "c.4539+1100A>G p.[Arg1514Valfs*31,Arg1514Glyfs*3,=]b" "" "Unknown" "" "" "0" "" "" "g.94028345T>C" "" "pathogenic (recessive)" ""
"0000776601" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Sangermano 2019:30643219}" "" "c.[1622T>C;3113C>T] p.[Leu541Pro;Ala1038Val]" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000776602" "0" "90" "1" "94493895" "94493895" "subst" "0" "01695" "ABCA4_001084" "g.94493895G>A" "" "{PMID:Sangermano 2019:30643219}" "" "c.4539+1106C>T p.[Arg1514Valfs*31,Arg1514Glyfs*3]b" "" "Unknown" "" "" "0" "" "" "g.94028339G>A" "" "pathogenic (recessive)" ""
"0000776603" "1" "70" "1" "94496509" "94496509" "subst" "0.00475243" "01695" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Sangermano 2019:30643219}" "" "c.[4253+43G>A;6006-609T>A] p.[=,Ile1377Hisfs*3]b" "" "Unknown" "" "" "0" "" "" "g.94030953C>T" "" "likely pathogenic (recessive)" ""
"0000776604" "1" "50" "1" "94471747" "94471747" "subst" "0" "01695" "ABCA4_000882" "g.94471747A>T" "" "{PMID:Sangermano 2019:30643219}" "" "c.[4253+43G>A;6006-609T>A] p.[=,Ile1377Hisfs*3]b" "" "Unknown" "" "" "0" "" "" "g.94006191A>T" "" "VUS" ""
"0000776605" "2" "90" "1" "94534447" "94544587" "del" "0" "01695" "ABCA4_002112" "g.94534447_94544587del" "" "{PMID:Bauwens 2019:30670881}" "" "[1239+291_1555-5574del ]" "" "Unknown" "yes" "" "0" "" "" "g.94068891_94079031del" "" "pathogenic (recessive)" ""
"0000776606" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Bauwens 2019:30670881}" "" "c.[2588G>C; 5603A>T]" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000776607" "0" "90" "1" "94457537" "94476649" "del" "0" "01695" "ABCA4_001552" "g.94457537_94476649del" "" "{PMID:Bauwens 2019:30670881}" "" "[5585-166_*1254del]" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.93991981_94011093del" "" "pathogenic (recessive)" ""
"0000776608" "1" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Bauwens 2019:30670881}" "" "c.[5461-10T>C; 5603A>T]" "" "Unknown" "yes" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000776609" "2" "70" "1" "94496509" "94496509" "subst" "0.00475243" "01695" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Bauwens 2019:30670881}" "" "[4253+43G>A; 6006-609T>A]" "" "Unknown" "yes" "" "0" "" "" "g.94030953C>T" "" "likely pathogenic (recessive)" ""
"0000776610" "2" "50" "1" "94471747" "94471747" "subst" "0" "01695" "ABCA4_000882" "g.94471747A>T" "" "{PMID:Bauwens 2019:30670881}" "" "[4253+43G>A; 6006-609T>A]" "" "Unknown" "yes" "" "0" "" "" "g.94006191A>T" "" "VUS" ""
"0000776611" "0" "70" "1" "94496509" "94496509" "subst" "0.00475243" "01695" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Bauwens 2019:30670881}" "" "[4253+43G>A; 6006-609T>A]" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94030953C>T" "" "likely pathogenic (recessive)" ""
"0000776612" "0" "50" "1" "94471747" "94471747" "subst" "0" "01695" "ABCA4_000882" "g.94471747A>T" "" "{PMID:Bauwens 2019:30670881}" "" "[4253+43G>A; 6006-609T>A]" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94006191A>T" "" "VUS" ""
"0000776613" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Bauwens 2019:30670881}" "" "c.[1622T>C; 3113C>T]" "" "Unknown" "yes" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000776614" "2" "70" "1" "94496509" "94496509" "subst" "0.00475243" "01695" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Bauwens 2019:30670881}" "" "[4253+43G>A; 6006-609T>A]" "" "Unknown" "yes" "" "0" "" "" "g.94030953C>T" "" "likely pathogenic (recessive)" ""
"0000776615" "2" "50" "1" "94471747" "94471747" "subst" "0" "01695" "ABCA4_000882" "g.94471747A>T" "" "{PMID:Bauwens 2019:30670881}" "" "[4253+43G>A; 6006-609T>A]" "" "Unknown" "yes" "" "0" "" "" "g.94006191A>T" "" "VUS" ""
"0000776616" "2" "70" "1" "94496509" "94496509" "subst" "0.00475243" "01695" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Bauwens 2019:30670881}" "" "[4253+43G>A; 6006-609T>A]" "" "Unknown" "yes" "" "0" "" "" "g.94030953C>T" "" "likely pathogenic (recessive)" ""
"0000776617" "2" "50" "1" "94471747" "94471747" "subst" "0" "01695" "ABCA4_000882" "g.94471747A>T" "" "{PMID:Bauwens 2019:30670881}" "" "[4253+43G>A; 6006-609T>A]" "" "Unknown" "yes" "" "0" "" "" "g.94006191A>T" "" "VUS" ""
"0000776618" "0" "70" "1" "94496509" "94496509" "subst" "0.00475243" "01695" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Bauwens 2019:30670881}" "" "[4253+43G>A; 6006-609T>A]" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94030953C>T" "" "likely pathogenic (recessive)" ""
"0000776619" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Bauwens 2019:30670881}" "" "c.[5461-10T>C; 5603A>T]" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000776620" "0" "50" "1" "94471747" "94471747" "subst" "0" "01695" "ABCA4_000882" "g.94471747A>T" "" "{PMID:Bauwens 2019:30670881}" "" "[4253+43G>A; 6006-609T>A]" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94006191A>T" "" "VUS" ""
"0000776621" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Bauwens 2019:30670881}" "" "c.[2588G>C; 5603A>T]" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000776622" "0" "70" "1" "94577158" "94577158" "subst" "0" "01695" "ABCA4_002235" "g.94577158A>C" "" "{PMID:Bauwens 2019:30670881}" "" "[161-23T>G]" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94111602A>C" "" "likely pathogenic (recessive)" ""
"0000776623" "0" "90" "1" "94507682" "94511705" "del" "0" "01695" "ABCA4_001916" "g.94507682_94511705del" "" "{PMID:Bauwens 2019:30670881}" "" "2918+775_3328+640del ]" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94042126_94046149del" "" "pathogenic (recessive)" ""
"0000776624" "0" "70" "1" "94508465" "94508465" "subst" "0" "01695" "ABCA4_001943" "g.94508465A>T" "" "{PMID:Bauwens 2019:30670881}" "" "[3191-11T>A]" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94042909A>T" "" "likely pathogenic (recessive)" ""
"0000776625" "2" "70" "1" "94496509" "94496509" "subst" "0.00475243" "01695" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Bauwens 2019:30670881}" "" "[4253+43G>A]" "" "Unknown" "yes" "" "0" "" "" "g.94030953C>T" "" "likely pathogenic (recessive)" ""
"0000776626" "2" "70" "1" "94496509" "94496509" "subst" "0.00475243" "01695" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Bauwens 2019:30670881}" "" "[253+43G>A]" "" "Unknown" "yes" "" "0" "" "" "g.94030953C>T" "" "likely pathogenic (recessive)" ""
"0000776627" "0" "70" "1" "94496509" "94496509" "subst" "0.00475243" "01695" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Bauwens 2019:30670881}{PMID:Weisschuh 2020:32531858}" "" "[4253+43G>A]" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94030953C>T" "" "likely pathogenic (recessive)" ""
"0000776628" "0" "90" "1" "94568035" "94573339" "del" "0" "01695" "ABCA4_002196" "g.94568035_94573339del" "" "{PMID:Bauwens 2019:30670881}" "" "[442+799_c.570+541del ]" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94102479_94107783del" "" "pathogenic (recessive)" ""
"0000776629" "2" "90" "1" "94493895" "94493895" "subst" "0" "01695" "ABCA4_001084" "g.94493895G>A" "" "{PMID:Bauwens 2019:30670881}" "" "[4539+1106C>T]" "" "Unknown" "yes" "" "0" "" "" "g.94028339G>A" "" "pathogenic (recessive)" ""
"0000776630" "2" "90" "1" "94493895" "94493895" "subst" "0" "01695" "ABCA4_001084" "g.94493895G>A" "" "{PMID:Bauwens 2019:30670881}" "" "[4539+1106C>T]" "" "Unknown" "yes" "" "0" "" "" "g.94028339G>A" "" "pathogenic (recessive)" ""
"0000776631" "2" "70" "1" "94493000" "94493000" "subst" "0" "01695" "ABCA4_000015" "g.94493000C>T" "" "{PMID:Bauwens 2019:30670881}" "" "[4539+2001G>A]" "" "Unknown" "yes" "" "0" "" "" "g.94027444C>T" "" "likely pathogenic (recessive)" ""
"0000776632" "2" "70" "1" "94493000" "94493000" "subst" "0" "01695" "ABCA4_000015" "g.94493000C>T" "" "{PMID:Bauwens 2019:30670881}" "" "[4539+2001G>A]" "" "Unknown" "yes" "" "0" "" "" "g.94027444C>T" "" "likely pathogenic (recessive)" ""
"0000776633" "1" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Bauwens 2019:30670881}" "" "c.[71G>A; 5603A>T]" "" "Unknown" "yes" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000776634" "2" "70" "1" "94493000" "94493000" "subst" "0" "01695" "ABCA4_000015" "g.94493000C>T" "" "{PMID:Bauwens 2019:30670881}" "" "[4539+2001G>A]" "" "Unknown" "yes" "" "0" "" "" "g.94027444C>T" "" "likely pathogenic (recessive)" ""
"0000776635" "2" "70" "1" "94493000" "94493000" "subst" "0" "01695" "ABCA4_000015" "g.94493000C>T" "" "{PMID:Bauwens 2019:30670881}" "" "[4539+2001G>A]" "" "Unknown" "yes" "" "0" "" "" "g.94027444C>T" "" "likely pathogenic (recessive)" ""
"0000776636" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Bauwens 2019:30670881}" "" "[5603A>T]" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000776637" "2" "70" "1" "94493000" "94493000" "subst" "0" "01695" "ABCA4_000015" "g.94493000C>T" "" "{PMID:Bauwens 2019:30670881}" "" "[4539+2001G>A]" "" "Unknown" "yes" "" "0" "" "" "g.94027444C>T" "" "likely pathogenic (recessive)" ""
"0000776638" "2" "90" "1" "94546814" "94546814" "subst" "0" "01695" "ABCA4_002158" "g.94546814G>C" "" "{PMID:Bauwens 2019:30670881}" "" "[859-540C>G]" "" "Unknown" "yes" "" "0" "" "" "g.94081258G>C" "" "pathogenic (recessive)" ""
"0000776639" "0" "90" "1" "94492937" "94492937" "subst" "0" "01695" "ABCA4_000529" "g.94492937G>A" "" "{PMID:Bauwens 2019:30670881}" "" "[4539+2064C>T]" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94027381G>A" "" "pathogenic (recessive)" ""
"0000776640" "0" "90" "1" "94492937" "94492937" "subst" "0" "01695" "ABCA4_000529" "g.94492937G>A" "" "{PMID:Bauwens 2019:30670881}" "" "[4539+2064C>T]" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94027381G>A" "" "pathogenic (recessive)" ""
"0000776641" "2" "90" "1" "94481967" "94481967" "subst" "0" "01695" "ABCA4_001719" "g.94481967C>A" "" "{PMID:Bauwens 2019:30670881}" "" "[5197-557G>T]" "" "Unknown" "yes" "" "0" "" "" "g.94016411C>A" "" "pathogenic (recessive)" ""
"0000776642" "0" "70" "1" "94579013" "94586018" "dup" "0" "01695" "ABCA4_002246" "g.94579013_94586018dup" "" "{PMID:Bauwens 2019:30670881}" "" "[66+520_67-389dup ]" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94113457_94120462dup" "" "likely pathogenic (recessive)" ""
"0000776643" "2" "90" "1" "94553580" "94579598" "dup" "0" "01695" "ABCA4_002166" "g.94553580_94579598dup" "" "{PMID:Bauwens 2019:30670881}" "" "[67-975_769-4582dup{insA}]" "" "Unknown" "yes" "" "0" "" "" "g.94088024_94114042dup" "" "pathogenic (recessive)" ""
"0000776644" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Bauwens 2019:30670881}" "" "[5603A>T; 769-784C>T]" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000776645" "0" "70" "1" "94549781" "94549781" "subst" "0" "01695" "ABCA4_001046" "g.94549781G>A" "" "{PMID:Bauwens 2019:30670881}" "" "[5603A>T; 769-784C>T]" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94084225G>A" "" "likely pathogenic (recessive)" ""
"0000776646" "1" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Bauwens 2019:30670881}" "" "c.[5461-10T>C; 5603A>T]" "" "Unknown" "yes" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000776647" "2" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Bauwens 2019:30670881}" "" "[5603A>T]" "" "Unknown" "yes" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000776648" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Bauwens 2019:30670881}" "" "[5603A>T]" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000776649" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Bauwens 2019:30670881}" "" "[5603A>T;?]" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000776650" "1" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Bauwens 2019:30670881}" "" "c.[5461-10T>C; 5603A>T]" "" "Unknown" "yes" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000776651" "2" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Bauwens 2019:30670881}" "" "[5603A>T]" "" "Unknown" "yes" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000776652" "3" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Bauwens 2019:30670881}" "" "c.[5461-10T>C; 5603A>T]" "" "Unknown" "yes" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000776653" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Bauwens 2019:30670881}" "" "[5603A>T]" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000776654" "3" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Bauwens 2019:30670881}" "" "c.[2884del; 5603A>T]" "" "Unknown" "yes" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000776655" "3" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Bauwens 2019:30670881}" "" "c.[5461-10T>C; 5603A>T]" "" "Unknown" "yes" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000776656" "3" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Bauwens 2019:30670881}" "" "c.[5461-10T>C; 5603A>T]" "" "Unknown" "yes" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000776657" "3" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Bauwens 2019:30670881}" "" "c.[4469G>A; 5603A>T]" "" "Unknown" "yes" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000776658" "1" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Bauwens 2019:30670881}" "" "c.[5461-10T>C; 5603A>T]" "" "Unknown" "yes" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000776659" "2" "50" "1" "94510683" "94510683" "subst" "0" "01695" "ABCA4_001973" "g.94510683G>A" "" "{PMID:Bauwens 2019:30670881}" "" "[2919-383C>T; 5603A>T]" "" "Unknown" "yes" "" "0" "" "" "g.94045127G>A" "" "VUS" ""
"0000776660" "2" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Bauwens 2019:30670881}" "" "[2919-383C>T; 5603A>T]" "" "Unknown" "yes" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000776661" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Bauwens 2019:30670881}" "" "[5603A>T]" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000776662" "2" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Bauwens 2019:30670881}" "" "[5603A>T]" "" "Unknown" "yes" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000776663" "0" "30" "1" "94502913" "94502913" "subst" "4.08664E-6" "01695" "ABCA4_001256" "g.94502913C>T" "" "{PMID:Bauwens 2019:30670881}" "" "c.[1015T>G; c.3608-7G>A]" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94037357C>T" "" "likely benign" ""
"0000776664" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Bauwens 2019:30670881}" "" "[5603A>T]" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000776665" "3" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Bauwens 2019:30670881}" "" "c.[2884del; 5603A>T]" "" "Unknown" "yes" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000776666" "3" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Bauwens 2019:30670881}" "" "c.[5461-10T>C; 5603A>T]" "" "Unknown" "yes" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000776667" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Bauwens 2019:30670881}" "" "[5603A>T]" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000776668" "0" "30" "1" "94502913" "94502913" "subst" "4.08664E-6" "01695" "ABCA4_001256" "g.94502913C>T" "" "{PMID:Bauwens 2019:30670881}" "" "c.[1015T>G; 3608-7G>A]" "no variant 2nd chromosome; no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94037357C>T" "" "likely benign" ""
"0000776669" "2" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Bauwens 2019:30670881}" "" "[5603A>T]" "" "Unknown" "yes" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000776670" "2" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Bauwens 2019:30670881}" "" "[5603A>T]" "" "Unknown" "yes" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000776671" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Bauwens 2019:30670881}" "" "[5603A>T;?]" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000776672" "3" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Bauwens 2019:30670881}" "" "c.[.5461-10T>C; 5603A>T]" "" "Unknown" "yes" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000776673" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Bauwens 2019:30670881}" "" "[5603A>T;?]" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000776674" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Bauwens 2019:30670881}" "" "[5603A>T]" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000776675" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Bauwens 2019:30670881}" "" "[5603A>T]" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000776676" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Bauwens 2019:30670881}" "" "[5603A>T]" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000776677" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Bauwens 2019:30670881}" "" "c.[1622T>C; 3113C>T]" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000776678" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Bauwens 2019:30670881}" "" "[5603A>T]" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000776679" "3" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Bauwens 2019:30670881}" "" "c.[.5461-10T>C; 5603A>T]" "" "Unknown" "yes" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000776680" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Sheremet 2018:30721205}" "" "c.768G>T (c.768-1G>T) p.V256V (IVS6-1G>T)" "" "Unknown" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000776681" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Sheremet 2018:30721205}" "" "c.[3113C>T;1622T>C] p.[A1038V;L541P]" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000776682" "0" "90" "1" "94490510" "94490510" "del" "0" "01695" "ABCA4_001457" "g.94490510del" "" "{PMID:Sheremet 2018:30721205}" "" "c.4634+1_2delG" "" "Unknown" "" "" "0" "" "" "g.94024954del" "" "pathogenic (recessive)" ""
"0000776683" "0" "70" "1" "94471055" "94471055" "subst" "0.00035346" "01695" "ABCA4_000029" "g.94471055C>T" "" "{PMID:Riera 2019:30798147}" "" "c.6089G > A (p.Arg2030Gln)" "" "Unknown" "" "" "0" "" "" "g.94005499C>T" "" "likely pathogenic (recessive)" ""
"0000776684" "1" "50" "1" "94526230" "94526230" "subst" "7.32136E-5" "01695" "ABCA4_000760" "g.94526230C>T" "" "{PMID:Riera 2019:30798147} {PMID:Riera 2017:28181551}" "" "c.514G > A (p.Gly172Ser); c.2023G > A (p.Val675Ile); c.6148G > C (p.Val2050Leu)" "" "Unknown" "" "" "0" "" "" "g.94060674C>T" "" "VUS" ""
"0000776685" "1" "50" "1" "94467548" "94467548" "subst" "0.00295661" "01695" "ABCA4_000788" "g.94467548C>G" "" "{PMID:Riera 2019:30798147} {PMID:Riera 2017:28181551}" "" "c.514G > A (p.Gly172Ser); c.2023G > A (p.Val675Ile); c.6148G > C (p.Val2050Leu)" "" "Unknown" "" "" "0" "" "" "g.94001992C>G" "" "VUS" ""
"0000776686" "2" "90" "1" "94508435" "94508436" "dup" "0" "01695" "ABCA4_000998" "g.94508435_94508436dup" "" "{PMID:Riera 2019:30798147} {PMID:Riera 2017:28181551}" "" "c.3211_3212insGT (p.Ser1071fs*14)" "" "Unknown" "" "" "0" "" "" "g.94042879_94042880dup" "" "pathogenic (recessive)" ""
"0000776687" "2" "70" "1" "94474323" "94474323" "subst" "2.03034E-5" "01695" "ABCA4_000156" "g.94474323A>G" "" "{PMID:Riera 2017:28181551}" "" "c.5819T?>?C Leu1940Pro" "" "Unknown" "" "" "0" "" "" "g.94008767A>G" "" "likely pathogenic (recessive)" ""
"0000776688" "2" "90" "1" "94471026" "94471026" "subst" "1.21925E-5" "01695" "ABCA4_000791" "g.94471026G>A" "" "{PMID:Riera 2017:28181551}" "" "c.6118C?>?T Arg2040Ter" "" "Unknown" "" "" "0" "" "" "g.94005470G>A" "" "pathogenic (recessive)" ""
"0000776689" "2" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Riera 2017:28181551}" "" "c.5882G?>?A Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000776690" "2" "70" "1" "94486895" "94486895" "subst" "3.24923E-5" "01695" "ABCA4_000484" "g.94486895C>T" "" "{PMID:Riera 2017:28181551}" "" "c.4919G?>?A Arg1640Gln" "" "Unknown" "" "" "0" "" "" "g.94021339C>T" "" "likely pathogenic (recessive)" ""
"0000776691" "0" "90" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Tayebi 2019:30820146}" "" "c.634C>T p.(Arg212Cys)" "" "Unknown" "" "" "0" "" "" "g.94098928G>A" "" "pathogenic (recessive)" ""
"0000776692" "0" "90" "1" "94546220" "94546220" "subst" "0" "01695" "ABCA4_000060" "g.94546220G>A" "" "{PMID:Tayebi 2019:30820146}" "" "c.913C>T p.(Gln305*)" "" "Unknown" "" "" "0" "" "" "g.94080664G>A" "" "pathogenic (recessive)" ""
"0000776693" "1" "70" "1" "94496583" "94496583" "subst" "2.03092E-5" "01695" "ABCA4_000190" "g.94496583A>G" "" "{PMID:Tanna 2019:30834176}" "" "c.4918C.T;c.4222T.C p.Arg1640Trp;p.Trp1408Arg" "" "Unknown" "" "" "0" "" "" "g.94031027A>G" "" "likely pathogenic (recessive)" ""
"0000776694" "0" "90" "1" "94577046" "94577049" "dup" "0" "01695" "ABCA4_000227" "g.94577046_94577049dup" "" "{PMID:Tanna 2019:30834176}" "" "c.247_258insCAAA p.Gln83ProfsTer17" "" "Unknown" "" "" "0" "" "" "g.94111490_94111493dup" "" "pathogenic (recessive)" ""
"0000776695" "0" "90" "1" "94508386" "94508386" "subst" "1.62443E-5" "01695" "ABCA4_000642" "g.94508386C>T" "" "{PMID:Tanna 2019:30834176}" "" "c.3259G.A p.Glu1087Lys" "" "Unknown" "" "" "0" "" "" "g.94042830C>T" "" "pathogenic (recessive)" ""
"0000776696" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Tanna 2019:30834176}" "" "c.2588G.C p.Gly863Ala" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000776697" "0" "90" "1" "94526296" "94526296" "subst" "1.64555E-5" "01695" "ABCA4_000768" "g.94526296G>A" "" "{PMID:Tanna 2019:30834176}" "" "c.1957C.T p.Arg653Cys; c.1411G.A p.Glu471Lys" "" "Unknown" "" "" "0" "" "" "g.94060740G>A" "" "pathogenic (recessive)" ""
"0000776698" "0" "70" "1" "94522239" "94522239" "subst" "2.03305E-5" "01695" "ABCA4_000736" "g.94522239A>T" "" "{PMID:Tanna 2019:30834176}" "" "c.2300T.A p.Val767Asp" "" "Unknown" "" "" "0" "" "" "g.94056683A>T" "" "likely pathogenic (recessive)" ""
"0000776699" "0" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "" "{PMID:Tanna 2019:30834176}" "" "c.4469G.A p.Cys1490Tyr; c.2588G.C p.Gly863Ala" "" "Unknown" "" "" "0" "" "" "g.94029515C>T" "" "likely pathogenic (recessive)" ""
"0000776700" "0" "90" "1" "94508455" "94508455" "subst" "8.12434E-6" "01695" "ABCA4_000649" "g.94508455C>A" "" "{PMID:Tanna 2019:30834176}" "" "c.3191-1G.T" "" "Unknown" "" "" "0" "" "" "g.94042899C>A" "" "pathogenic (recessive)" ""
"0000776701" "0" "70" "1" "94495177" "94495177" "subst" "1.22342E-5" "01695" "ABCA4_000023" "g.94495177A>G" "" "{PMID:Tanna 2019:30834176}" "" "c.4363T.C p.Cys1455Arg" "" "Unknown" "" "" "0" "" "" "g.94029621A>G" "" "likely pathogenic (recessive)" ""
"0000776702" "0" "90" "1" "94568687" "94568687" "subst" "1.62641E-5" "01695" "ABCA4_000024" "g.94568687G>A" "" "{PMID:Tanna 2019:30834176}" "" "c.454C.T p.Arg152Ter" "" "Unknown" "" "" "0" "" "" "g.94103131G>A" "" "pathogenic (recessive)" ""
"0000776703" "0" "70" "1" "94487251" "94487251" "subst" "2.85679E-5" "01695" "ABCA4_000490" "g.94487251G>T" "" "{PMID:Tanna 2019:30834176}" "" "c.4793C.A p.Ala1598Asp" "" "Unknown" "" "" "0" "" "" "g.94021695G>T" "" "likely pathogenic (recessive)" ""
"0000776704" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Tanna 2019:30834176}" "" "c.3322C.T p.Arg1108Cys" "" "Unknown" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000776705" "0" "70" "1" "94486896" "94486896" "subst" "3.65562E-5" "01695" "ABCA4_000085" "g.94486896G>A" "" "{PMID:Tanna 2019:30834176}" "" "c.4918C.T p.Arg1640Trp" "" "Unknown" "" "" "0" "" "" "g.94021340G>A" "" "likely pathogenic (recessive)" ""
"0000776706" "0" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "" "{PMID:Tanna 2019:30834176}" "" "c.4469G.A p.Cys1490Tyr" "" "Unknown" "" "" "0" "" "" "g.94029515C>T" "" "likely pathogenic (recessive)" ""
"0000776707" "0" "70" "1" "94466422" "94466422" "subst" "2.43651E-5" "01695" "ABCA4_000817" "g.94466422C>T" "" "{PMID:Tanna 2019:30834176}" "" "c.6449G.A p.Cys2150Tyr" "" "Unknown" "" "" "0" "" "" "g.94000866C>T" "" "likely pathogenic (recessive)" ""
"0000776708" "0" "90" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Tanna 2019:30834176}" "" "c.634C.T p.Arg212Cys" "" "Unknown" "" "" "0" "" "" "g.94098928G>A" "" "pathogenic (recessive)" ""
"0000776709" "0" "90" "1" "94486791" "94486791" "subst" "0" "01695" "ABCA4_001253" "g.94486791C>T" "" "{PMID:Tanna 2019:30834176}" "" "c.5018+5G.A" "" "Unknown" "" "" "0" "" "" "g.94021235C>T" "" "pathogenic (recessive)" ""
"0000776710" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Tanna 2019:30834176}" "" "c.1622T.C;c.3113C.T p.Leu541Pro;p.Ala1038Val" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000776711" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Tanna 2019:30834176}" "" "c.5714+5G.A" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000776712" "0" "70" "1" "94520869" "94520869" "subst" "0" "01695" "ABCA4_000729" "g.94520869G>C" "" "{PMID:Tanna 2019:30834176}" "" "c.2385C.G p.Ser795Arg" "" "Unknown" "" "" "0" "" "" "g.94055313G>C" "" "likely pathogenic (recessive)" ""
"0000776713" "0" "90" "1" "94568687" "94568687" "subst" "1.62641E-5" "01695" "ABCA4_000024" "g.94568687G>A" "" "{PMID:Tanna 2019:30834176}" "" "c.454C.T p.Arg152Ter" "" "Unknown" "" "" "0" "" "" "g.94103131G>A" "" "pathogenic (recessive)" ""
"0000776714" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Tanna 2019:30834176}" "" "c.5882G.A p.Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000776715" "0" "90" "1" "94528164" "94528164" "subst" "2.03336E-5" "01695" "ABCA4_000267" "g.94528164G>A" "" "{PMID:Tanna 2019:30834176}" "" "c.1906C.T p.Gln636Ter" "" "Unknown" "" "" "0" "" "" "g.94062608G>A" "" "pathogenic (recessive)" ""
"0000776716" "1" "70" "1" "94496583" "94496583" "subst" "2.03092E-5" "01695" "ABCA4_000190" "g.94496583A>G" "" "{PMID:Tanna 2019:30834176}" "" "c.4918C.T;c.4222T.C p.Arg1640Trp;p.Trp1408Arg" "" "Unknown" "" "" "0" "" "" "g.94031027A>G" "" "likely pathogenic (recessive)" ""
"0000776717" "0" "90" "1" "94577046" "94577049" "dup" "0" "01695" "ABCA4_000227" "g.94577046_94577049dup" "" "{PMID:Tanna 2019:30834176}" "" "c.247_250insCAAA p.Gln83ProfsTer17" "" "Unknown" "" "" "0" "" "" "g.94111490_94111493dup" "" "pathogenic (recessive)" ""
"0000776718" "0" "50" "1" "94496010" "94496010" "subst" "1.62434E-5" "01695" "ABCA4_000549" "g.94496010G>T" "" "{PMID:Tanna 2019:30834176}" "" "c.4326C.A p.Asn1442Lys" "" "Unknown" "" "" "0" "" "" "g.94030454G>T" "" "VUS" ""
"0000776719" "0" "90" "1" "94471026" "94471026" "subst" "1.21925E-5" "01695" "ABCA4_000791" "g.94471026G>A" "" "{PMID:Tanna 2019:30834176}" "" "c.6118C.T p.Arg2040Ter" "" "Unknown" "" "" "0" "" "" "g.94005470G>A" "" "pathogenic (recessive)" ""
"0000776720" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Tanna 2019:30834176}" "" "c.4139C.T p.Pro1380Leu" "" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000776721" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Tanna 2019:30834176}" "" "c.2588G.C p.Gly863Ala" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000776722" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Tanna 2019:30834176}" "" "c.3113C.T;c.1622T.C p.Ala1038Val;p.Leu541Pro" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000776723" "1" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Tanna 2019:30834176}" "" "c.5882G.A;c.3758C.T p.Gly1961Glu;p.Thr1253Met" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000776724" "0" "70" "1" "94506923" "94506923" "subst" "2.43657E-5" "01695" "ABCA4_000012" "g.94506923C>T" "" "{PMID:Tanna 2019:30834176}" "" "c.3364G.A p.Glu1122Lys" "" "Unknown" "" "" "0" "" "" "g.94041367C>T" "" "likely pathogenic (recessive)" ""
"0000776725" "0" "90" "1" "94487401" "94487401" "subst" "0" "01695" "ABCA4_000495" "g.94487401C>A" "" "{PMID:Tanna 2019:30834176}" "" "c.4773+1G.T" "" "Unknown" "" "" "0" "" "" "g.94021845C>A" "" "pathogenic (recessive)" ""
"0000776726" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Tanna 2019:30834176}" "" "c.1804C.T p.Arg602Trp" "" "Unknown" "" "" "0" "" "" "g.94062710G>A" "" "pathogenic (recessive)" ""
"0000776727" "0" "70" "1" "94480241" "94480241" "subst" "0" "01695" "ABCA4_000447" "g.94480241G>T" "" "{PMID:Tanna 2019:30834176}" "" "c.5318C.A p.Ala1973Glu" "" "Unknown" "" "" "0" "" "" "g.94014685G>T" "" "likely pathogenic (recessive)" ""
"0000776728" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Tanna 2019:30834176}" "" "c.5461-10T.C" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000776729" "0" "90" "1" "94508435" "94508436" "dup" "0" "01695" "ABCA4_000998" "g.94508435_94508436dup" "" "{PMID:Tanna 2019:30834176}" "" "c.3210_3211insGT p.Ser1071CysfsTer14" "" "Unknown" "" "" "0" "" "" "g.94042879_94042880dup" "" "pathogenic (recessive)" ""
"0000776730" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Tanna 2019:30834176}" "" "c.2588G.C p.Gly863Ala" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000776731" "0" "90" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Tanna 2019:30834176}" "" "c.634C.T p.Arg212Cys" "" "Unknown" "" "" "0" "" "" "g.94098928G>A" "" "pathogenic (recessive)" ""
"0000776732" "0" "70" "1" "94577010" "94577010" "subst" "0" "01695" "ABCA4_002222" "g.94577010T>A" "" "{PMID:Tanna 2019:30834176}" "" "c.286A.T p.Asn96Tyr" "" "Unknown" "" "" "0" "" "" "g.94111454T>A" "" "likely pathogenic (recessive)" ""
"0000776733" "0" "70" "1" "94506923" "94506923" "subst" "2.43657E-5" "01695" "ABCA4_000012" "g.94506923C>T" "" "{PMID:Tanna 2019:30834176}" "" "c.3364G.A p.Glu1122Lys" "" "Unknown" "" "" "0" "" "" "g.94041367C>T" "" "likely pathogenic (recessive)" ""
"0000776734" "3" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Bax 2019:30903310}" "" "c.[1622 T>C;3113C>T] p.[Leu541Pro;Ala1038Val]" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000776735" "3" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Bax 2019:30903310}" "" "c.[1622 T>C;3113C>T] p.[Leu541Pro;Ala1038Val]" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000776736" "3" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Bax 2019:30903310}" "" "c.[1622 T>C;3113C>T] p.[Leu541Pro;Ala1038Val]" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000776737" "0" "70" "1" "94508340" "94508340" "subst" "4.06171E-6" "01695" "ABCA4_000630" "g.94508340T>A" "" "{PMID:Bax 2019:30903310}" "" "c.3305A>T p.(Asp1102Val)" "" "Unknown" "" "" "0" "" "" "g.94042784T>A" "" "likely pathogenic (recessive)" ""
"0000776738" "0" "90" "1" "94474381" "94474382" "dup" "0" "01695" "ABCA4_000409" "g.94474381_94474382dup" "" "{PMID:Bax 2019:30903310}" "" "c.5762_5763dup p.(Ala1922Trpfs*18)" "" "Unknown" "" "" "0" "" "" "g.94008825_94008826dup" "" "pathogenic (recessive)" ""
"0000776739" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Bax 2019:30903310}" "" "c.5461-10T>C p.(Thr1821Valfs*13,Thr1821Aspfs*6)" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000776740" "0" "90" "1" "94497333" "94497333" "subst" "0" "01695" "ABCA4_001221" "g.94497333C>T" "" "{PMID:Bax 2019:30903310}" "" "c.4128+1G>A p.(?)" "" "Unknown" "" "" "0" "" "" "g.94031777C>T" "" "pathogenic (recessive)" ""
"0000776741" "0" "90" "1" "94497333" "94497333" "subst" "0" "01695" "ABCA4_001221" "g.94497333C>T" "" "{PMID:Bax 2019:30903310}" "" "c.4128+1G>A p.(?)" "" "Unknown" "" "" "0" "" "" "g.94031777C>T" "" "pathogenic (recessive)" ""
"0000776742" "0" "90" "1" "94508316" "94510301" "del" "0" "01695" "ABCA4_000041" "g.(94506959_94508316)_(94510301_94512474)del" "" "{PMID:Bax 2019:30903310}" "" "c.2919-?_3328+?del p.(Ser974Glnfs*64)" "" "Unknown" "" "" "0" "" "" "g.(94041403_94042760)_(94044745_94046918)del" "" "pathogenic (recessive)" ""
"0000776743" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Bax 2019:30903310}" "" "c.768G>T p.(?)" "" "Unknown" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000776744" "0" "90" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Bax 2019:30903310}" "" "c.6320G>A p.(Arg2107His)" "" "Unknown" "" "" "0" "" "" "g.94001068C>T" "" "pathogenic (recessive)" ""
"0000776745" "0" "70" "1" "94577010" "94577010" "subst" "1.22004E-5" "01695" "ABCA4_000224" "g.94577010T>C" "" "{PMID:Bax 2019:30903310}" "" "c.286A>G p.(Asn96Asp)" "" "Unknown" "" "" "0" "" "" "g.94111454T>C" "" "likely pathogenic (recessive)" ""
"0000776746" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Bax 2019:30903310}" "" "c.5882G>A p.(Gly1961Glu)" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000776747" "0" "70" "1" "94484001" "94484001" "subst" "0" "01695" "ABCA4_000016" "g.94484001C>T" "" "{PMID:Bax 2019:30903310}" "" "c.5196+1137G>A p.(?)" "" "Unknown" "" "" "0" "" "" "g.94018445C>T" "" "likely pathogenic (recessive)" ""
"0000776748" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Bax 2019:30903310}" "" "c.5461-10T>C p.(Thr1821Valfs*13,Thr1821Aspfs*6)" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000776749" "0" "70" "1" "94476865" "94476865" "subst" "2.03107E-5" "01695" "ABCA4_000430" "g.94476865A>G" "" "{PMID:Bax 2019:30903310}" "" "c.5537T>C p.(Ile1846Thr)" "" "Unknown" "" "" "0" "" "" "g.94011309A>G" "" "likely pathogenic (recessive)" ""
"0000776750" "0" "90" "1" "94508316" "94510301" "del" "0" "01695" "ABCA4_000041" "g.(94506959_94508316)_(94510301_94512474)del" "" "{PMID:Bax 2019:30903310}" "" "c.2919?_+3328+?del p.(Ser974Glnfs*64)" "" "Unknown" "" "" "0" "" "" "g.(94041403_94042760)_(94044745_94046918)del" "" "pathogenic (recessive)" ""
"0000776751" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Bax 2019:30903310}" "" "c.1804C>T p.(Arg602Trp)" "" "Unknown" "" "" "0" "" "" "g.94062710G>A" "" "pathogenic (recessive)" ""
"0000776752" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Bax 2019:30903310}" "" "c.[1622T>C;3113C>T] p.[Leu541Pro;Ala1038Val]" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000776753" "0" "90" "1" "94466628" "94466628" "subst" "0.000109748" "01695" "ABCA4_000094" "g.94466628G>A" "" "{PMID:Bax 2019:30903310}" "" "c.6316C>T p.(Arg2106Cys)" "" "Unknown" "" "" "0" "" "" "g.94001072G>A" "" "pathogenic (recessive)" ""
"0000776754" "0" "90" "1" "94508316" "94510301" "del" "0" "01695" "ABCA4_000041" "g.(94506959_94508316)_(94510301_94512474)del" "" "{PMID:Bax 2019:30903310}" "" "c.3033-?_3364+?del p.(?)" "" "Unknown" "" "" "0" "" "" "g.(94041403_94042760)_(94044745_94046918)del" "" "pathogenic (recessive)" ""
"0000776755" "0" "90" "1" "94508316" "94510301" "del" "0" "01695" "ABCA4_000041" "g.(94506959_94508316)_(94510301_94512474)del" "" "{PMID:Bax 2019:30903310}" "" "c.3033-?_3364+?del p.(?)" "" "Unknown" "" "" "0" "" "" "g.(94041403_94042760)_(94044745_94046918)del" "" "pathogenic (recessive)" ""
"0000776756" "0" "70" "1" "94496581" "94496581" "subst" "0" "01695" "ABCA4_000566" "g.94496581C>A" "" "{PMID:Bax 2019:30903310}" "" "c.[872C>T;4224G>T] p.[Pro291Leu;Trp1408Cys]" "" "Unknown" "" "" "0" "" "" "g.94031025C>A" "" "likely pathogenic (recessive)" ""
"0000776757" "0" "70" "1" "94510272" "94510272" "subst" "4.06062E-6" "01695" "ABCA4_000070" "g.94510272T>C" "" "{PMID:Bax 2019:30903310}" "" "c.2947A>G p.(Thr983Ala)" "" "Unknown" "" "" "0" "" "" "g.94044716T>C" "" "likely pathogenic (recessive)" ""
"0000776758" "0" "70" "1" "94485221" "94485221" "subst" "0" "01695" "ABCA4_000471" "g.94485221G>A" "" "{PMID:Bax 2019:30903310}" "" "c.5113C>T p.(Arg1705Trp)" "" "Unknown" "" "" "0" "" "" "g.94019665G>A" "" "likely pathogenic (recessive)" ""
"0000776759" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Bax 2019:30903310}" "" "c.5461-10T>C p.(Thr1821Valfs*13,Thr1821Aspfs*6)" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000776760" "0" "70" "1" "94546261" "94546261" "subst" "0.000648567" "01695" "ABCA4_000353" "g.94546261G>A" "" "{PMID:Bax 2019:30903310}" "" "c.872C>T p.(Pro291Leu);" "" "Unknown" "" "" "0" "" "" "g.94080705G>A" "" "likely pathogenic (recessive)" ""
"0000776761" "0" "90" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Bax 2019:30903310}" "" "c.6320G>A p.(Arg2107His)" "" "Unknown" "" "" "0" "" "" "g.94001068C>T" "" "pathogenic (recessive)" ""
"0000776762" "0" "90" "1" "94495983" "94495983" "subst" "8.12348E-6" "01695" "ABCA4_000547" "g.94495983C>T" "" "{PMID:Bax 2019:30903310}" "" "c.4352+1G>A p.(?)" "" "Unknown" "" "" "0" "" "" "g.94030427C>T" "" "pathogenic (recessive)" ""
"0000776763" "0" "90" "1" "94546253" "94546253" "subst" "0" "01695" "ABCA4_001351" "g.94546253G>A" "" "{PMID:Kim 2019:31144483}" "" "c.880C>T p.Q294X" "" "Unknown" "" "" "0" "" "" "g.94080697G>A" "" "pathogenic (recessive)" ""
"0000776764" "0" "70" "1" "94528164" "94528164" "subst" "0" "01695" "ABCA4_001311" "g.94528164G>T" "" "{PMID:Kim 2019:31144483}" "" "c.1906C>A p.Q636K" "" "Unknown" "" "" "0" "" "" "g.94062608G>T" "" "likely pathogenic (recessive)" ""
"0000776765" "0" "50" "1" "94528137" "94528137" "subst" "2.03363E-5" "01695" "ABCA4_000774" "g.94528137C>T" "" "{PMID:Kim 2019:31144483}" "" "c.1933G>A p.D654N" "" "Unknown" "" "" "0" "" "" "g.94062581C>T" "" "VUS" ""
"0000776766" "0" "70" "1" "94506938" "94506938" "subst" "0" "01695" "ABCA4_001343" "g.94506938T>C" "" "{PMID:Kim 2019:31144483}" "" "c.3349A>G p.T1117A" "" "Unknown" "" "" "0" "" "" "g.94041382T>C" "" "likely pathogenic (recessive)" ""
"0000776767" "0" "70" "1" "94506949" "94506951" "del" "0" "01695" "ABCA4_001344" "g.94506949_94506951del" "" "{PMID:Kim 2019:31144483}" "" "c.3342_3344delCAT p.I1114_M1115delinsM" "" "Unknown" "" "" "0" "" "" "g.94041393_94041395del" "" "likely pathogenic (recessive)" ""
"0000776768" "0" "70" "1" "94506949" "94506951" "del" "0" "01695" "ABCA4_001344" "g.94506949_94506951del" "" "{PMID:Kim 2019:31144483}" "" "c.3342_3344delCAT p.I1114_M1115delinsM" "" "Unknown" "" "" "0" "" "" "g.94041393_94041395del" "" "likely pathogenic (recessive)" ""
"0000776769" "0" "50" "1" "94546264" "94546264" "subst" "4.08077E-6" "01695" "ABCA4_001352" "g.94546264C>T" "" "{PMID:Kim 2019:31144483}" "" "c.869G>A p.R290Q" "" "Unknown" "" "" "0" "" "" "g.94080708C>T" "" "VUS" ""
"0000776770" "0" "90" "1" "94506817" "94506817" "subst" "0" "01695" "ABCA4_001342" "g.94506817A>C" "" "{PMID:Kim 2019:31144483}" "" "c.3470T>G p.L1157X" "" "Unknown" "" "" "0" "" "" "g.94041261A>C" "" "pathogenic (recessive)" ""
"0000776771" "1" "70" "1" "94492973" "94492973" "subst" "0" "01695" "ABCA4_000030" "g.94492973G>A" "" "{PMID:Albert 2018:29526278}" "" "c.4539+2028C>T (p.?) " "" "Unknown" "" "" "0" "" "" "g.94027417G>A" "" "likely pathogenic (recessive)" ""
"0000776772" "2" "90" "1" "94463476" "94468246" "delins" "0" "01695" "ABCA4_000800" "g.94463476_94468246delinsCTAGGGAGGTGCACA" "" "{PMID:Albert 2018:29526278}" "" "c.6148?698_6670delinsTGTGCACCTCCCTAG (p.?)" "" "Unknown" "" "" "0" "" "" "g.93997920_94002690delinsCTAGGGAGGTGCACA" "" "pathogenic (recessive)" ""
"0000776773" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Khan 2019:31212395}" "" "c.[1622T>C;3113C>T] p.[(Leu541Pro;Ala1038Val)]" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000776774" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Khan 2019:31212395}" "" "c.5882G>A p.(Gly1961Glu)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000776775" "0" "50" "1" "94494142" "94494142" "subst" "0" "01695" "ABCA4_001091" "g.94494142G>A" "" "{PMID:Khan 2019:31212395}" "" "c.4539+859C>T# [p.(=)]" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94028586G>A" "" "VUS" ""
"0000776776" "0" "70" "1" "94496509" "94496509" "subst" "0.00475243" "01695" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Khan 2019:31212395}" "" "c.4253+43G>A p.[=,Ile1377Hisfs*3]" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94030953C>T" "" "likely pathogenic (recessive)" ""
"0000776777" "0" "90" "1" "94476367" "94476367" "dup" "0" "01695" "ABCA4_001667" "g.94476367dup" "" "{PMID:Khan 2019:31212395}" "" "c.5704dup p.(Leu1902Profs*10)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010811dup" "" "pathogenic (recessive)" ""
"0000776778" "0" "70" "1" "94496509" "94496509" "subst" "0.00475243" "01695" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Khan 2019:31212395}" "" "c.4253+43G>A p.[=,Ile1377Hisfs*3]" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94030953C>T" "" "likely pathogenic (recessive)" ""
"0000776779" "0" "70" "1" "94546124" "94546124" "subst" "0" "01695" "ABCA4_000342" "g.94546124A>G" "" "{PMID:Khan 2019:31212395}" "" "c.1009T>C p.(Phe337Leu)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94080568A>G" "" "likely pathogenic (recessive)" ""
"0000776780" "0" "90" "1" "94526247" "94526248" "del" "0" "01695" "ABCA4_000761" "g.94526247_94526248del" "" "{PMID:Khan 2019:31212395}" "" "c.2005_2006del p.(Met669Aspfs*96)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94060691_94060692del" "" "pathogenic (recessive)" ""
"0000776781" "1" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2019:31212395}" "" "c.[160T>G;5603A>T] p.[Cys54Gly;Asn1868Ile]" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000776782" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Khan 2019:31212395}" "" "c.5882G>A p.(Gly1961Glu)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000776783" "1" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2019:31212395}" "" "c.[5461-10T>C;5603A>T] p.[Thr1821Aspfs*6,Thr1821Valfs*13;(Asn1868Ile)]" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000776784" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Khan 2019:31212395}" "" "c.5882G>A p.(Gly1961Glu)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000776785" "1" "50" "1" "94476377" "94476377" "subst" "0.00160473" "01695" "ABCA4_000411" "g.94476377C>T" "" "{PMID:Khan 2019:31212395}" "" "c.[179C>T;5693G>A] p.[Ala60Val;Arg1898His]" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010821C>T" "" "VUS" ""
"0000776786" "0" "90" "1" "94546248" "94546248" "del" "2.03666E-5" "01695" "ABCA4_000352" "g.94546248del" "" "{PMID:Khan 2019:31212395}" "" "c.885del p.(Leu296Cysfs*4)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94080692del" "" "pathogenic (recessive)" ""
"0000776787" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Khan 2019:31212395}" "" "c.5882G>A p.(Gly1961Glu)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000776788" "0" "70" "1" "94543277" "94543277" "subst" "0" "01695" "ABCA4_001042" "g.94543277C>G" "" "{PMID:Khan 2019:31212395}" "" "c.1523G>C p.(Arg508Pro)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94077721C>G" "" "likely pathogenic (recessive)" ""
"0000776789" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Khan 2019:31212395}" "" "c.5882G>A p.(Gly1961Glu)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000776790" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Khan 2019:31212395}" "" "c.5882G>A p.(Gly1961Glu)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000776791" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Khan 2019:31212395}" "" "c.5882G>A p.(Gly1961Glu)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000776792" "0" "90" "1" "94471046" "94471046" "del" "0" "01695" "ABCA4_001044" "g.94471046del" "" "{PMID:Khan 2019:31212395}" "" "c.6100del p.(Tyr2034Thrfs*27)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94005490del" "" "pathogenic (recessive)" ""
"0000776793" "0" "70" "1" "94473259" "94473259" "subst" "0" "01695" "ABCA4_001045" "g.94473259G>A" "" "{PMID:Khan 2019:31212395}" "" "c.5936C>T p.(Thr1979Ile)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94007703G>A" "" "likely pathogenic (recessive)" ""
"0000776794" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Khan 2019:31212395}" "" "c.[1622T>C;3113C>T] p.[(Leu541Pro;Ala1038Val)]" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000776795" "0" "70" "1" "94549781" "94549781" "subst" "0" "01695" "ABCA4_001046" "g.94549781G>A" "" "{PMID:Khan 2019:31212395}" "" "c.769-784C>T(;)5603A>T p.(=,Leu257Aspfs*3)(;)(Asn1868Ile)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94084225G>A" "" "likely pathogenic (recessive)" ""
"0000776796" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2019:31212395}" "" "c.769-784C>T(;)5603A>T p.(=,Leu257Aspfs*3)(;)(Asn1868Ile)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000776797" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Khan 2019:31212395}" "" "c.5882G>A p.(Gly1961Glu)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000776798" "1" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2019:31212395}" "" "c.[5461-10T>C;5603A>T] p.[Thr1821Aspfs*6,Thr1821Valfs*13;(Asn1868Ile)]" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000776799" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Khan 2019:31212395}" "" "c.5882G>A p.(Gly1961Glu)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000776800" "0" "90" "1" "94480107" "94480107" "del" "0" "01695" "ABCA4_001050" "g.94480107del" "" "{PMID:Khan 2019:31212395}" "" "c.5453del p.(Asn1818Ilefs*12)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94014551del" "" "pathogenic (recessive)" ""
"0000776801" "1" "50" "1" "94476377" "94476377" "subst" "0.00160473" "01695" "ABCA4_000411" "g.94476377C>T" "" "{PMID:Khan 2019:31212395}" "" "c.[4918C>T;5693G>A] p.[Arg1640Trp;Arg1898His]" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010821C>T" "" "VUS" ""
"0000776802" "0" "70" "1" "94496509" "94496509" "subst" "0.00475243" "01695" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Khan 2019:31212395}" "" "c.4253+43G>A p.[=,Ile1377Hisfs*3]" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94030953C>T" "" "likely pathogenic (recessive)" ""
"0000776803" "0" "70" "1" "94480230" "94480230" "subst" "6.09177E-5" "01695" "ABCA4_001053" "g.94480230T>A" "" "{PMID:Khan 2019:31212395}" "" "c.5329A>T p.(Met1777Leu)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94014674T>A" "" "likely pathogenic (recessive)" ""
"0000776804" "0" "70" "1" "94549781" "94549781" "subst" "0" "01695" "ABCA4_001046" "g.94549781G>A" "" "{PMID:Khan 2019:31212395}" "" "c.769-784C>T(;)5603A>T p.(=,Leu257Aspfs*3)(;)(Asn1868Ile)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94084225G>A" "" "likely pathogenic (recessive)" ""
"0000776805" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2019:31212395}" "" "c.769-784C>T(;)5603A>T p.(=,Leu257Aspfs*3)(;)(Asn1868Ile)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000776806" "1" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2019:31212395}" "" "c.[2588G>C;5603A>T] p.[Gly863Ala,Gly863del;(Asn1868Ile)]" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000776807" "0" "90" "1" "94484082" "94484082" "subst" "0" "01695" "ABCA4_000028" "g.94484082T>C" "" "{PMID:Khan 2019:31212395}" "" "c.5196+1056A>G p.(Met1733Valfs*3)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94018526T>C" "" "pathogenic (recessive)" ""
"0000776808" "0" "70" "1" "94549781" "94549781" "subst" "0" "01695" "ABCA4_001046" "g.94549781G>A" "" "{PMID:Khan 2019:31212395}" "" "c.769-784C>T(;)3377T>C p.(=,Leu257Aspfs*3)(;)(Leu1126Pro)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94084225G>A" "" "likely pathogenic (recessive)" ""
"0000776809" "0" "50" "1" "94506910" "94506910" "subst" "4.06098E-6" "01695" "ABCA4_000105" "g.94506910A>G" "" "{PMID:Khan 2019:31212395}" "" "c.769-784C>T(;)3377T>C p.(=,Leu257Aspfs*3)(;)(Leu1126Pro)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94041354A>G" "" "VUS" ""
"0000776810" "0" "70" "1" "94496509" "94496509" "subst" "0.00475243" "01695" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Khan 2019:31212395}" "" "c.4253+43G>A p.[=,Ile1377Hisfs*3]" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94030953C>T" "" "likely pathogenic (recessive)" ""
"0000776811" "0" "70" "1" "94496509" "94496509" "subst" "0.00475243" "01695" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Khan 2019:31212395}" "" "c.4253+43G>A p.[=,Ile1377Hisfs*3]" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94030953C>T" "" "likely pathogenic (recessive)" ""
"0000776812" "0" "70" "1" "94496509" "94496509" "subst" "0.00475243" "01695" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Khan 2019:31212395}" "" "c.4253+43G>A p.[=,Ile1377Hisfs*3]" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94030953C>T" "" "likely pathogenic (recessive)" ""
"0000776813" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Khan 2019:31212395}" "" "c.[1622T>C;3113C>T] p.[(Leu541Pro;Ala1038Val)]" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000776814" "0" "70" "1" "94496509" "94496509" "subst" "0.00475243" "01695" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Khan 2019:31212395}" "" "c.4253+43G>A(;)5603A>T p.(=,Ile1377Hisfs*3)(;)(Asn1868Ile)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94030953C>T" "" "likely pathogenic (recessive)" ""
"0000776815" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2019:31212395}" "" "c.4253+43G>A(;)5603A>T p.(=,Ile1377Hisfs*3)(;)(Asn1868Ile)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000776816" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2019:31212395}" "" "c.5603A>T p.(Asn1868Ile)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000776817" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Khan 2019:31212395}" "" "c.[1622T>C;3113C>T] p.[(Leu541Pro;Ala1038Val)]" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000776818" "0" "70" "1" "94496509" "94496509" "subst" "0.00475243" "01695" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Khan 2019:31212395}" "" "c.4253+43G>A p.[=,Ile1377Hisfs*3]" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94030953C>T" "" "likely pathogenic (recessive)" ""
"0000776819" "0" "90" "1" "94492937" "94492937" "subst" "0" "01695" "ABCA4_000529" "g.94492937G>A" "" "{PMID:Khan 2019:31212395}" "" "c.4539+2064C>T p.[=,Arg1514Leufs*36]" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94027381G>A" "" "pathogenic (recessive)" ""
"0000776820" "0" "70" "1" "94484001" "94484001" "subst" "0" "01695" "ABCA4_000016" "g.94484001C>T" "" "{PMID:Khan 2019:31212395}" "" "c.5196+1137G>A p.[=,Met1733Glufs*78]" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94018445C>T" "" "likely pathogenic (recessive)" ""
"0000776821" "2" "70" "1" "94484001" "94484001" "subst" "0" "01695" "ABCA4_000016" "g.94484001C>T" "" "{PMID:Khan 2019:31212395}" "" "c.5196+1137G>A p.[=,Met1733Glufs*78]" "" "Unknown" "yes" "" "0" "" "" "g.94018445C>T" "" "likely pathogenic (recessive)" ""
"0000776822" "1" "90" "1" "94508997" "94508997" "subst" "0" "01695" "ABCA4_000112" "g.94508997G>A" "" "{PMID:Khan 2019:31212395}" "" "c.[2588-12C>G;3085C>T] p.[p.?;(Gln1029*)]" "" "Unknown" "yes" "" "0" "" "" "g.94043441G>A" "" "pathogenic (recessive)" ""
"0000776823" "2" "70" "1" "94484001" "94484001" "subst" "0" "01695" "ABCA4_000016" "g.94484001C>T" "" "{PMID:Khan 2019:31212395}" "" "c.5196+1137G>A p.[=,Met1733Glufs*78]" "" "Unknown" "yes" "" "0" "" "" "g.94018445C>T" "" "likely pathogenic (recessive)" ""
"0000776824" "0" "90" "1" "94492937" "94492937" "subst" "0" "01695" "ABCA4_000529" "g.94492937G>A" "" "{PMID:Khan 2019:31212395}" "" "c.4539+2064C>T p.[=,Arg1514Leufs*36]" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94027381G>A" "" "pathogenic (recessive)" ""
"0000776825" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Khan 2019:31212395}" "" "c.5461-10T>C(;)5603A>T p.[Thr1821Aspfs*6,Thr1821Valfs*13](;)(Asn1868Ile)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000776826" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2019:31212395}" "" "c.5461-10T>C(;)5603A>T p.[Thr1821Aspfs*6,Thr1821Valfs*13](;)(Asn1868Ile)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000776827" "2" "70" "1" "94496509" "94496509" "subst" "0.00475243" "01695" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Khan 2019:31212395}" "" "c.4253+43G>A p.[=,Ile1377Hisfs*3]" "" "Unknown" "yes" "" "0" "" "" "g.94030953C>T" "" "likely pathogenic (recessive)" ""
"0000776828" "2" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Khan 2019:31212395}" "" "c.[5461-10T>C;5603A>T] p.[Thr1821Aspfs*6,Thr1821Valfs*13;(Asn1868Ile)]" "" "Unknown" "yes" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000776829" "2" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2019:31212395}" "" "c.[5461-10T>C;5603A>T] p.[Thr1821Aspfs*6,Thr1821Valfs*13;(Asn1868Ile)]" "" "Unknown" "yes" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000776830" "0" "70" "1" "94496509" "94496509" "subst" "0.00475243" "01695" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Khan 2019:31212395}" "" "c.4253+43G>A p.[=,Ile1377Hisfs*3]" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94030953C>T" "" "likely pathogenic (recessive)" ""
"0000776831" "2" "90" "1" "94512611" "94512611" "dup" "0" "01695" "ABCA4_001060" "g.94512611dup" "" "{PMID:Khan 2019:31212395}" "" "c.2785dup p.(Val929Glyfs*11)" "" "Unknown" "yes" "" "0" "" "" "g.94047055dup" "" "pathogenic (recessive)" ""
"0000776832" "0" "70" "1" "94496509" "94496509" "subst" "0.00475243" "01695" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Khan 2019:31212395}" "" "c.4253+43G>A p.[=,Ile1377Hisfs*3]" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94030953C>T" "" "likely pathogenic (recessive)" ""
"0000776833" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Khan 2019:31212395}" "" "c.656G>C(;)2588G>C(;)5603A>T p.[Gly863Ala,Gly863del](;)(Asn1868Ile)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000776834" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2019:31212395}" "" "c.656G>C(;)2588G>C(;)5603A>T p.[Gly863Ala,Gly863del](;)(Asn1868Ile)" "no variant 2nd chromosome; no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000776835" "2" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Khan 2019:31212395}" "" "c.[5461-10T>C;5603A>T] p.[Thr1821Aspfs*6,Thr1821Valfs*13;(Asn1868Ile)]" "" "Unknown" "yes" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000776836" "2" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2019:31212395}" "" "c.[5461-10T>C;5603A>T] p.[Thr1821Aspfs*6,Thr1821Valfs*13;(Asn1868Ile)]" "" "Unknown" "yes" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000776837" "2" "90" "1" "94492937" "94492937" "subst" "0" "01695" "ABCA4_000529" "g.94492937G>A" "" "{PMID:Khan 2019:31212395}" "" "c.4539+2064C>T p.[=,Arg1514Leufs*36]" "" "Unknown" "yes" "" "0" "" "" "g.94027381G>A" "" "pathogenic (recessive)" ""
"0000776838" "1" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2019:31212395}" "" "c.[2588G>C;5603A>T] p.[Gly863Ala,Gly863del;(Asn1868Ile)]" "" "Unknown" "yes" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000776839" "2" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Khan 2019:31212395}" "" "c.[5461-10T>C;5603A>T] p.[Thr1821Aspfs*6,Thr1821Valfs*13;(Asn1868Ile)]" "" "Unknown" "yes" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000776840" "2" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2019:31212395}" "" "c.[5461-10T>C;5603A>T] p.[Thr1821Aspfs*6,Thr1821Valfs*13;(Asn1868Ile)]" "" "Unknown" "yes" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000776841" "2" "70" "1" "94471037" "94471037" "subst" "0" "01695" "ABCA4_001062" "g.94471037T>C" "" "{PMID:Khan 2019:31212395}" "" "c.6107A>G p.(Tyr2036Cys)" "" "Unknown" "yes" "" "0" "" "" "g.94005481T>C" "" "likely pathogenic (recessive)" ""
"0000776842" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2019:31212395}" "" "c.2588G>C(;)5603A>T p.[Gly863Ala,Gly863del];(Asn1868Ile)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000776843" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Khan 2019:31212395}" "" "c.4139C>T p.(Pro1380Leu)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000776844" "0" "50" "1" "94520853" "94520853" "subst" "8.14783E-6" "01695" "ABCA4_000729" "g.94520853C>T" "" "{PMID:Khan 2019:31212395}" "" "c.2401G>A p.(Ala801Thr)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94055297C>T" "" "VUS" ""
"0000776845" "1" "70" "1" "94486896" "94486896" "subst" "3.65562E-5" "01695" "ABCA4_000085" "g.94486896G>A" "" "{PMID:Khan 2019:31212395}" "" "c.[4222T>C;4918C>T] p.[Trp1408Arg;Arg1640Trp]" "" "Unknown" "yes" "" "0" "" "" "g.94021340G>A" "" "likely pathogenic (recessive)" ""
"0000776846" "2" "70" "1" "94484001" "94484001" "subst" "0" "01695" "ABCA4_000016" "g.94484001C>T" "" "{PMID:Khan 2019:31212395}" "" "c.5196+1137G>A p.[=,Met1733Glufs*78]" "" "Unknown" "yes" "" "0" "" "" "g.94018445C>T" "" "likely pathogenic (recessive)" ""
"0000776847" "2" "90" "1" "94495001" "94495001" "subst" "0" "01695" "ABCA4_001064" "g.94495001C>T" "" "{PMID:Khan 2019:31212395}" "" "c.4539G>A p.[Cys1490Glufs*12,=]" "" "Unknown" "yes" "" "0" "" "" "g.94029445C>T" "" "pathogenic (recessive)" ""
"0000776848" "3" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2019:31212395}" "" "c.5461-10T>C(;)5603A>T p.[Thr1821Aspfs*6,Thr1821Valfs*13](;)(Asn1868Ile)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000776849" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Khan 2019:31212395}" "" "c.5461-10T>C(;)5603A>T p.[Thr1821Aspfs*6,Thr1821Valfs*13](;)(Asn1868Ile)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000776850" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2019:31212395}" "" "c.5461-10T>C(;)5603A>T p.[Thr1821Aspfs*6,Thr1821Valfs*13](;)(Asn1868Ile)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000776851" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Khan 2019:31212395}" "" "c.5461-10T>C(;)5603A>T p.[Thr1821Aspfs*6,Thr1821Valfs*13](;)(Asn1868Ile)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000776852" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2019:31212395}" "" "c.5461-10T>C(;)5603A>T p.[Thr1821Aspfs*6,Thr1821Valfs*13](;)(Asn1868Ile)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000776853" "2" "70" "1" "94496509" "94496509" "subst" "0.00475243" "01695" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Khan 2019:31212395}" "" "c.4253+43G>A p.[=,Ile1377Hisfs*3]" "" "Unknown" "yes" "" "0" "" "" "g.94030953C>T" "" "likely pathogenic (recessive)" ""
"0000776854" "0" "90" "1" "94486888" "94486888" "del" "0" "01695" "ABCA4_001068" "g.94486888del" "" "{PMID:Khan 2019:31212395}" "" "c.4927del p.(Leu1643Cysfs*19)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94021332del" "" "pathogenic (recessive)" ""
"0000776855" "2" "70" "1" "94484001" "94484001" "subst" "0" "01695" "ABCA4_000016" "g.94484001C>T" "" "{PMID:Khan 2019:31212395}" "" "c.5196+1137G>A p.[=,Met1733Glufs*78]" "" "Unknown" "yes" "" "0" "" "" "g.94018445C>T" "" "likely pathogenic (recessive)" ""
"0000776856" "0" "70" "1" "94484001" "94484001" "subst" "0" "01695" "ABCA4_000016" "g.94484001C>T" "" "{PMID:Khan 2019:31212395}" "" "c.5196+1137G>A p.[=,Met1733Glufs*78]" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94018445C>T" "" "likely pathogenic (recessive)" ""
"0000776857" "0" "90" "1" "94466628" "94466628" "subst" "0.000109748" "01695" "ABCA4_000094" "g.94466628G>A" "" "{PMID:Khan 2019:31212395}" "" "c.6316C>T p.(Arg2106Cys)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94001072G>A" "" "pathogenic (recessive)" ""
"0000776858" "2" "70" "1" "94496509" "94496509" "subst" "0.00475243" "01695" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Khan 2019:31212395}" "" "c.4253+43G>A p.[=,Ile1377Hisfs*3]" "" "Unknown" "yes" "" "0" "" "" "g.94030953C>T" "" "likely pathogenic (recessive)" ""
"0000776859" "2" "70" "1" "94496509" "94496509" "subst" "0.00475243" "01695" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Khan 2019:31212395}" "" "c.[4253+43G>A;5603A>T] p.[=,Ile1377Hisfs*3;Asn1868Ile]" "" "Unknown" "yes" "" "0" "" "" "g.94030953C>T" "" "likely pathogenic (recessive)" ""
"0000776860" "2" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2019:31212395}" "" "c.[4253+43G>A;5603A>T] p.[=,Ile1377Hisfs*3;Asn1868Ile]" "" "Unknown" "yes" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000776861" "2" "70" "1" "94493000" "94493000" "subst" "0" "01695" "ABCA4_000015" "g.94493000C>T" "" "{PMID:Khan 2019:31212395}" "" "c.4539+2001G>A p.[=,Arg1514Leufs*36]" "" "Unknown" "yes" "" "0" "" "" "g.94027444C>T" "" "likely pathogenic (recessive)" ""
"0000776862" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2019:31212395}" "" "c.2588G>C(;)5603A>T p.[Gly863Ala,Gly863del](;)(Asn1868Ile)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000776863" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Khan 2019:31212395}" "" "c.4139C>T p.(Pro1380Leu)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000776864" "1" "70" "1" "94486896" "94486896" "subst" "3.65562E-5" "01695" "ABCA4_000085" "g.94486896G>A" "" "{PMID:Khan 2019:31212395}" "" "c.[4222T>C;4918C>T] p.[Trp1408Arg;Arg1640Trp]" "" "Unknown" "yes" "" "0" "" "" "g.94021340G>A" "" "likely pathogenic (recessive)" ""
"0000776865" "2" "50" "1" "94568686" "94568686" "subst" "0.00258122" "01695" "ABCA4_000212" "g.94568686C>T" "" "{PMID:Khan 2019:31212395}" "" "c.[455G>A;5603A>T] p.[Arg152Gln;Asn1868Ile]" "" "Unknown" "yes" "" "0" "" "" "g.94103130C>T" "" "VUS" ""
"0000776866" "2" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2019:31212395}" "" "c.[455G>A;5603A>T] p.[Arg152Gln;Asn1868Ile]" "" "Unknown" "yes" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000776867" "1" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2019:31212395}" "" "c.[5461-10T>C;5603A>T] p.[Thr1821Aspfs*6,Thr1821Valfs*13;(Asn1868Ile)]" "" "Unknown" "yes" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000776868" "2" "70" "1" "94496509" "94496509" "subst" "0.00475243" "01695" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Khan 2019:31212395}" "" "c.[4253+43G>A;5603A>T] p.[=,Ile1377Hisfs*3;Asn1868Ile]" "" "Unknown" "yes" "" "0" "" "" "g.94030953C>T" "" "likely pathogenic (recessive)" ""
"0000776869" "2" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2019:31212395}" "" "c.[4253+43G>A;5603A>T] p.[=,Ile1377Hisfs*3;Asn1868Ile]" "" "Unknown" "yes" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000776870" "2" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Khan 2019:31212395}" "" "c.[5461-10T>C;5603A>T] p.[Thr1821Aspfs*6,Thr1821Valfs*13;(Asn1868Ile)]" "" "Unknown" "yes" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000776871" "2" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2019:31212395}" "" "c.[5461-10T>C;5603A>T] p.[Thr1821Aspfs*6,Thr1821Valfs*13;(Asn1868Ile)]" "" "Unknown" "yes" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000776872" "0" "70" "1" "94544258" "94544258" "subst" "0" "01695" "ABCA4_001071" "g.94544258T>C" "" "{PMID:Khan 2019:31212395}" "" "c.1244A>G p.(Asn415Ser)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94078702T>C" "" "likely pathogenic (recessive)" ""
"0000776873" "0" "70" "1" "94496509" "94496509" "subst" "0.00475243" "01695" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Khan 2019:31212395}" "" "c.4253+43G>A p.[=,Ile1377Hisfs*3]" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94030953C>T" "" "likely pathogenic (recessive)" ""
"0000776874" "2" "70" "1" "94484001" "94484001" "subst" "0" "01695" "ABCA4_000016" "g.94484001C>T" "" "{PMID:Khan 2019:31212395}" "" "c.5196+1137G>A p.[=,Met1733Glufs*78]" "" "Unknown" "yes" "" "0" "" "" "g.94018445C>T" "" "likely pathogenic (recessive)" ""
"0000776875" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Khan 2019:31212395}" "" "c.5461-10T>C(;)5603A>T p.[Thr1821Aspfs*6,Thr1821Valfs*13](;)(Asn1868Ile)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000776876" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2019:31212395}" "" "c.5461-10T>C(;)5603A>T p.[Thr1821Aspfs*6,Thr1821Valfs*13](;)(Asn1868Ile)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000776877" "0" "70" "1" "94528287" "94528287" "subst" "0" "01695" "ABCA4_001074" "g.94528287C>T" "" "{PMID:Khan 2019:31212395}" "" "c.1783G>A p.(Ala595Thr)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94062731C>T" "" "likely pathogenic (recessive)" ""
"0000776878" "2" "70" "1" "94484001" "94484001" "subst" "0" "01695" "ABCA4_000016" "g.94484001C>T" "" "{PMID:Khan 2019:31212395}" "" "c.5196+1137G>A p.[=,Met1733Glufs*78]" "" "Unknown" "yes" "" "0" "" "" "g.94018445C>T" "" "likely pathogenic (recessive)" ""
"0000776879" "2" "70" "1" "94484001" "94484001" "subst" "0" "01695" "ABCA4_000016" "g.94484001C>T" "" "{PMID:Khan 2019:31212395}" "" "c.5196+1137G>A p.[=,Met1733Glufs*78]" "" "Unknown" "yes" "" "0" "" "" "g.94018445C>T" "" "likely pathogenic (recessive)" ""
"0000776880" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Khan 2019:31212395}" "" "c.5461-10T>C(;)5603A>T p.[Thr1821Aspfs*6,Thr1821Valfs*13](;)(Asn1868Ile)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000776881" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2019:31212395}" "" "c.5461-10T>C(;)5603A>T p.[Thr1821Aspfs*6,Thr1821Valfs*13](;)(Asn1868Ile)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000776882" "1" "10" "1" "94463617" "94463617" "subst" "0.0109114" "01695" "ABCA4_000013" "g.94463617C>T" "" "{PMID:Khan 2019:31212395}" "" "c.[686T>C;6529G>A] p.[(Leu229Pro;Asp2177Asn)]" "" "Unknown" "yes" "" "0" "" "" "g.93998061C>T" "" "benign" ""
"0000776883" "2" "70" "1" "94484001" "94484001" "subst" "0" "01695" "ABCA4_000016" "g.94484001C>T" "" "{PMID:Khan 2019:31212395}" "" "c.5196+1137G>A p.[=,Met1733Glufs*78]" "" "Unknown" "yes" "" "0" "" "" "g.94018445C>T" "" "likely pathogenic (recessive)" ""
"0000776884" "0" "70" "1" "94496509" "94496509" "subst" "0.00475243" "01695" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Khan 2019:31212395}" "" "c.4253+43G>A p.[=,Ile1377Hisfs*3]" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94030953C>T" "" "likely pathogenic (recessive)" ""
"0000776885" "0" "70" "1" "94496509" "94496509" "subst" "0.00475243" "01695" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Khan 2019:31212395}" "" "c.4253+43G>A(;)5603A>T p.[=,Ile1377Hisfs*3](;)(Asn1868Ile)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94030953C>T" "" "likely pathogenic (recessive)" ""
"0000776886" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2019:31212395}" "" "c.4253+43G>A(;)5603A>T p.[=,Ile1377Hisfs*3](;)(Asn1868Ile)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000776887" "1" "70" "1" "94528819" "94528819" "subst" "2.03128E-5" "01695" "ABCA4_000078" "g.94528819G>A" "" "{PMID:Khan 2019:31212395}" "" "c.[455G>A;1609C>T] p.[(Arg152Gln;Arg537Cys)]" "" "Unknown" "yes" "" "0" "" "" "g.94063263G>A" "" "likely pathogenic (recessive)" ""
"0000776888" "2" "70" "1" "94493000" "94493000" "subst" "0" "01695" "ABCA4_000015" "g.94493000C>T" "" "{PMID:Khan 2019:31212395}" "" "c.4539+2001G>A p.[=,Arg1514Leufs*36]" "" "Unknown" "yes" "" "0" "" "" "g.94027444C>T" "" "likely pathogenic (recessive)" ""
"0000776889" "2" "70" "1" "94484001" "94484001" "subst" "0" "01695" "ABCA4_000016" "g.94484001C>T" "" "{PMID:Khan 2019:31212395}" "" "c.5196+1137G>A p.[=,Met1733Glufs*78]" "" "Unknown" "yes" "" "0" "" "" "g.94018445C>T" "" "likely pathogenic (recessive)" ""
"0000776890" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Khan 2019:31212395}" "" "c.5461-10T>C(;)5603A>T p.[Thr1821Aspfs*6,Thr1821Valfs*13](;)(Asn1868Ile)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000776891" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2019:31212395}" "" "c.5461-10T>C(;)5603A>T p.[Thr1821Aspfs*6,Thr1821Valfs*13](;)(Asn1868Ile)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000776892" "0" "70" "1" "94496509" "94496509" "subst" "0.00475243" "01695" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Khan 2019:31212395}" "" "c.4253+43G>A p.[=,Ile1377Hisfs*3]" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94030953C>T" "" "likely pathogenic (recessive)" ""
"0000776893" "0" "70" "1" "94496509" "94496509" "subst" "0.00475243" "01695" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Khan 2019:31212395}" "" "c.4253+43G>A p.[=,Ile1377Hisfs*3]" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94030953C>T" "" "likely pathogenic (recessive)" ""
"0000776894" "2" "90" "1" "94492937" "94492937" "subst" "0" "01695" "ABCA4_000529" "g.94492937G>A" "" "{PMID:Khan 2019:31212395}" "" "c.4539+2064C>T p.[=,Arg1514Leufs*36]" "" "Unknown" "yes" "" "0" "" "" "g.94027381G>A" "" "pathogenic (recessive)" ""
"0000776895" "2" "90" "1" "94497495" "94497495" "del" "0" "01695" "ABCA4_000584" "g.94497495del" "" "{PMID:Khan 2019:31212395}" "" "c.3970del p.(Ala1324Argfs*65)" "" "Unknown" "yes" "" "0" "" "" "g.94031939del" "" "pathogenic (recessive)" ""
"0000776896" "0" "70" "1" "94496509" "94496509" "subst" "0.00475243" "01695" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Khan 2019:31212395}" "" "c.4253+43G>A p.[=,Ile1377Hisfs*3]" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94030953C>T" "" "likely pathogenic (recessive)" ""
"0000776897" "1" "50" "1" "94496039" "94496039" "subst" "0.00157963" "01695" "ABCA4_000552" "g.94496039C>T" "" "{PMID:Khan 2019:31212395}" "" "c.[442+1G>A;4297G>A] p.[(?;Val1433Ile)]" "" "Unknown" "yes" "" "0" "" "" "g.94030483C>T" "" "VUS" ""
"0000776898" "2" "70" "1" "94492936" "94492936" "subst" "0" "01695" "ABCA4_001083" "g.94492936G>C" "" "{PMID:Khan 2019:31212395}" "" "c.4539+2065C>G p.[Arg1514Lysfs*35,=]" "" "Unknown" "yes" "" "0" "" "" "g.94027380G>C" "" "likely pathogenic (recessive)" ""
"0000776899" "1" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2019:31212395}" "" "c.[5461-10T>C;5603A>T] p.[Thr1821Aspfs*6,Thr1821Valfs*13;(Asn1868Ile)]" "" "Unknown" "yes" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000776900" "2" "70" "1" "94496509" "94496509" "subst" "0.00475243" "01695" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Khan 2019:31212395}" "" "c.4253+43G>A p.[=,Ile1377Hisfs*3]" "" "Unknown" "yes" "" "0" "" "" "g.94030953C>T" "" "likely pathogenic (recessive)" ""
"0000776901" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2019:31212395}" "" "c.2588G>C(;)5603A>T p.[Gly863Ala,Gly863del(;)(Asn1868Ile)]" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000776902" "0" "90" "1" "94493895" "94493895" "subst" "0" "01695" "ABCA4_001084" "g.94493895G>A" "" "{PMID:Khan 2019:31212395}" "" "c.4539+1106C>T p.[Arg1514Valfs*31,Arg1514Glyfs*3]" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94028339G>A" "" "pathogenic (recessive)" ""
"0000776903" "0" "90" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Khan 2019:31212395}" "" "c.634C>T p.(Arg212Cys)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94098928G>A" "" "pathogenic (recessive)" ""
"0000776904" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Khan 2019:31212395}" "" "c.1622T>C(;)3113C>T p.(Leu541Pro)(;)(Ala1038Val)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000776905" "0" "70" "1" "94496509" "94496509" "subst" "0.00475243" "01695" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Khan 2019:31212395}" "" "c.4253+43G>A p.[=,Ile1377Hisfs*3]" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94030953C>T" "" "likely pathogenic (recessive)" ""
"0000776906" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Khan 2019:31212395}" "" "c.5882G>A p.(Gly1961Glu)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000776907" "0" "50" "1" "94528142" "94528142" "subst" "0.00153303" "01695" "ABCA4_000125" "g.94528142A>C" "" "{PMID:Khan 2019:31212395}" "" "c.1928T>G p.(Val643Gly)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94062586A>C" "" "VUS" ""
"0000776908" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Khan 2019:31212395}" "" "c.5461-10T>C(;)5603A>T p.[Thr1821Aspfs*6,Thr1821Valfs*13](;)(Asn1868Ile)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000776909" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2019:31212395}" "" "c.5461-10T>C(;)5603A>T p.[Thr1821Aspfs*6,Thr1821Valfs*13](;)(Asn1868Ile)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000776910" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Khan 2019:31212395}" "" "c.5461-10T>C(;)5603A>T p.[Thr1821Aspfs*6,Thr1821Valfs*13](;)(Asn1868Ile)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000776911" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2019:31212395}" "" "c.5461-10T>C(;)5603A>T p.[Thr1821Aspfs*6,Thr1821Valfs*13](;)(Asn1868Ile)" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000776912" "1" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Khan 2019:31212395}" "" "c.[455G>A;3322C>T;6320G>A] p.[Arg152Gln;Arg1108Cys;Arg2107His]" "" "Unknown" "yes" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000776913" "1" "90" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Khan 2019:31212395}" "" "c.[455G>A;3322C>T;6320G>A] p.[Arg152Gln;Arg1108Cys;Arg2107His]" "" "Unknown" "yes" "" "0" "" "" "g.94001068C>T" "" "pathogenic (recessive)" ""
"0000776914" "2" "90" "1" "94497514" "94497524" "delins" "0" "01695" "ABCA4_001088" "g.94497514_94497524delinsCCC" "" "{PMID:Khan 2019:31212395}" "" "c.3938_3948delinsGGG p.(Thr1313Argfs*106)" "" "Unknown" "yes" "" "0" "" "" "g.94031958_94031968delinsCCC" "" "pathogenic (recessive)" ""
"0000776915" "1" "70" "1" "94497392" "94497392" "subst" "0" "01695" "ABCA4_000577" "g.94497392G>A" "" "{PMID:Khan 2019:31212395}" "" "c.[3113C>T;4070C>T] p.[(Ala1038Val;Ala1357Val)]" "" "Unknown" "yes" "" "0" "" "" "g.94031836G>A" "" "likely pathogenic (recessive)" ""
"0000776916" "2" "70" "1" "94484001" "94484001" "subst" "0" "01695" "ABCA4_000016" "g.94484001C>T" "" "{PMID:Khan 2019:31212395}" "" "c.5196+1137G>A p.[=,Met1733Glufs*78]" "" "Unknown" "yes" "" "0" "" "" "g.94018445C>T" "" "likely pathogenic (recessive)" ""
"0000776917" "0" "70" "1" "94577158" "94577158" "subst" "0" "01695" "ABCA4_001065" "g.94577158A>T" "" "{PMID:Khan 2019:31212395}" "" "c.161-23T>A p.[=,Cys54Serfs*14]" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94111602A>T" "" "likely pathogenic (recessive)" ""
"0000776918" "2" "70" "1" "94484001" "94484001" "subst" "0" "01695" "ABCA4_000016" "g.94484001C>T" "" "{PMID:Khan 2019:31212395}" "" "c.5196+1137G>A p.[=,Met1733Glufs*78]" "" "Unknown" "yes" "" "0" "" "" "g.94018445C>T" "" "likely pathogenic (recessive)" ""
"0000776919" "3" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Khan 2019:31318848}" "" "c.5882G.A; p.G1961E/c.2570T.C;pL857P" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000776920" "3" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Khan 2019:31318848}" "" "c.5882G.A; p.G1961E/c.2570T.C; pL857P" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000776921" "3" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Khan 2019:31318848}" "" "c.5882G.A; p.G1961E/c.2570T.C; pL857P" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000776922" "3" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Khan 2019:31318848}" "" "c.5882G.A; p.G1961E/c.2570T.C; pL857P" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000776923" "3" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Khan 2019:31318848}" "" "c.5882G.A; p.G1961E/c.2570T.C; pL857P" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000776924" "3" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Khan 2019:31318848}" "" "c.5882G.A; p.G1961E/c.2570T.C; pL857P" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000776925" "3" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Khan 2019:31318848}" "" "c.5882G.A; p.G1961E/c.2570T.C;pL857P" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000776926" "3" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Khan 2019:31318848}" "" "c.5882G.A; p.G1961E/c.2570T.C;pL857P" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000776927" "3" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Khan 2019:31318848}" "" "c.5882G.A; p.G1961E/c.2570T.C;pL857P" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000776928" "3" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Khan 2019:31318848}" "" "c.5882G.A; p.G1961E/c.2570T.C; pL857P" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000776929" "3" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Khan 2019:31318848}" "" "c.5882G.A; p.G1961E/c.2570T.C; pL857P" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000776930" "0" "70" "1" "94520684" "94520684" "subst" "0" "01695" "ABCA4_001069" "g.94520684A>G" "" "{PMID:Khan 2019:31318848}" "" "c.5882G.A; p.G1961E/c.2570T.C; p.Leu857Pro" "" "Unknown" "" "" "0" "" "" "g.94055128A>G" "" "likely pathogenic (recessive)" ""
"0000776931" "0" "70" "1" "94520684" "94520684" "subst" "0" "01695" "ABCA4_001069" "g.94520684A>G" "" "{PMID:Khan 2019:31318848}" "" "c.5882G.A; p.G1961E/c.2570T.C; p.Leu857Pro" "" "Unknown" "" "" "0" "" "" "g.94055128A>G" "" "likely pathogenic (recessive)" ""
"0000776932" "0" "70" "1" "94487251" "94487251" "subst" "2.85679E-5" "01695" "ABCA4_000490" "g.94487251G>T" "" "{PMID:Khan 2019:31318848}" "" "c.4793C.A; p.A1598D" "" "Unknown" "" "" "0" "" "" "g.94021695G>T" "" "likely pathogenic (recessive)" ""
"0000776933" "0" "90" "1" "94564508" "94564512" "del" "0" "01695" "ABCA4_002192" "g.94564508_94564512del" "" "{PMID:Khan 2019:31318848}" "" "c.607_611del; p.I203Lfs*75" "" "Unknown" "" "" "0" "" "" "g.94098952_94098956del" "" "pathogenic (recessive)" ""
"0000776934" "0" "90" "1" "94508386" "94508386" "subst" "1.62443E-5" "01695" "ABCA4_000642" "g.94508386C>T" "" "{PMID:Khan 2019:31318848}" "" "c.3259G.A; p.Q1087K" "" "Unknown" "" "" "0" "" "" "g.94042830C>T" "" "pathogenic (recessive)" ""
"0000776935" "0" "90" "1" "94497564" "94497564" "subst" "1.64383E-5" "01695" "ABCA4_000091" "g.94497564G>A" "" "{PMID:Khan 2019:31318848}" "" "c.3898C.T; p.R1300*" "" "Unknown" "" "" "0" "" "" "g.94032008G>A" "" "pathogenic (recessive)" ""
"0000776936" "0" "50" "1" "94496008" "94496008" "subst" "2.03056E-5" "01695" "ABCA4_000148" "g.94496008C>T" "" "{PMID:Khan 2019:31318848}" "" "c.4328G.A; p.R1443H" "" "Unknown" "" "" "0" "" "" "g.94030452C>T" "" "VUS" ""
"0000776937" "0" "70" "1" "94520684" "94520684" "subst" "0" "01695" "ABCA4_001069" "g.94520684A>G" "" "{PMID:Khan 2019:31318848}" "" "c.5882G.A; p.G1961E/c.2570t.C;p.Leu857Pro" "" "Unknown" "" "" "0" "" "" "g.94055128A>G" "" "likely pathogenic (recessive)" ""
"0000776938" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Fadaie 2019:31397521}" "" "c.6079C>T" "" "Unknown" "" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic (recessive)" ""
"0000776939" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Fadaie 2019:31397521}" "" "c.6079C>T" "" "Unknown" "" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic (recessive)" ""
"0000776940" "1" "50" "1" "94502756" "94502756" "subst" "0.000422575" "01695" "ABCA4_000032" "g.94502756G>A" "" "{PMID:Fadaie 2019:31397521}" "" "c.[3758C>T;5882G>A]" "" "Unknown" "" "" "0" "" "" "g.94037200G>A" "" "VUS" ""
"0000776941" "1" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Fadaie 2019:31397521}" "" "c.[3758C>T;5882G>A]" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000776942" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Fadaie 2019:31397521}" "" "c.5882G>A" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000776943" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Fadaie 2019:31397521}" "" "c.5882G>A" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000776944" "0" "70" "1" "94485247" "94485247" "subst" "4.07647E-5" "01695" "ABCA4_000475" "g.94485247C>T" "" "{PMID:Fadaie 2019:31397521}" "" "c.5087G>A" "" "Unknown" "" "" "0" "" "" "g.94019691C>T" "" "likely pathogenic (recessive)" ""
"0000776945" "0" "90" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Fadaie 2019:31397521}" "" "c.634C>T" "" "Unknown" "" "" "0" "" "" "g.94098928G>A" "" "pathogenic (recessive)" ""
"0000776946" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Fadaie 2019:31397521}" "" "c.[1622T>C;3113C>T(;)5603A>T]" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000776947" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Fadaie 2019:31397521}" "" "c.[1622T>C;3113C>T(;)5603A>T]" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000776948" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Fadaie 2019:31397521}" "" "c.[1622T>C;3113C>T(;)5603A>T]" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000776949" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Fadaie 2019:31397521}" "" "c.3113C>T" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000776950" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Fadaie 2019:31397521}" "" "c.5461?10T>C" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000776951" "1" "50" "1" "94476377" "94476377" "subst" "0.00160473" "01695" "ABCA4_000411" "g.94476377C>T" "" "{PMID:Sharon 2019:31456290}" "" "c.[1411G>A;5693G>A]" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94010821C>T" "" "VUS" ""
"0000776952" "0" "70" "1" "94546261" "94546261" "subst" "0.000648567" "01695" "ABCA4_000353" "g.94546261G>A" "" "{PMID:Sharon 2019:31456290}" "" "c.[1531C>T; 872C>T]" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94080705G>A" "" "likely pathogenic (recessive)" ""
"0000776953" "0" "70" "1" "94471055" "94471055" "subst" "0.00035346" "01695" "ABCA4_000029" "g.94471055C>T" "" "{PMID:Sharon 2019:31456290}" "" "c.[1A>G;6089G>A]" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94005499C>T" "" "likely pathogenic (recessive)" ""
"0000776954" "1" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Valkenburg 2019:31522899}" "" "c.[2588G>C; 5603A>T] p.[Gly863Ala, Gly863del; Asn1868Ile]" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000776955" "1" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Valkenburg 2019:31522899}" "" "c.[2588G>C; 5603A>T] p.[Gly863Ala, Gly863del; Asn1868Ile]" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000776956" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Valkenburg 2019:31522899}" "" "c.5461-10T>C p.(Thr1821Aspfs*6)" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000776957" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Valkenburg 2019:31522899}" "" "c.5461-10T>C p.(Thr1821Aspfs*6)" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000776958" "1" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Valkenburg 2019:31522899}" "" "c.[2588G>C; 5603A>T] p.[Gly863Ala, Gly863del; Asn1868Ile]" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000776959" "1" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Valkenburg 2019:31522899}" "" "c.[2588G>C; 5603A>T] p.[Gly863Ala, Gly863del; Asn1868Ile]" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000776960" "1" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Valkenburg 2019:31522899}" "" "c.[2588G>C; 5603A>T] p.[Gly863Ala, Gly863del; Asn1868Ile]" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000776961" "1" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Valkenburg 2019:31522899}" "" "c.[2588G>C; 5603A>T] p.[Gly863Ala, Gly863del; Asn1868Ile]" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000776962" "1" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Valkenburg 2019:31522899}" "" "c.[2588G>C; 5603A>T] p.[Gly863Ala, Gly863del; Asn1868Ile]" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000776963" "1" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Valkenburg 2019:31522899}" "" "c.[2588G>C; 5603A>T] p.[Gly863Ala, Gly863del; Asn1868Ile]" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000776964" "1" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Valkenburg 2019:31522899}" "" "c.[2588G>C; 5603A>T] p.[Gly863Ala, Gly863del; Asn1868Ile]" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000776965" "1" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Valkenburg 2019:31522899}" "" "c.[2588G>C; 5603A>T] p.[Gly863Ala, Gly863del; Asn1868Ile]" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000776966" "1" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Valkenburg 2019:31522899}" "" "c.[2588G>C; 5603A>T] p.[Gly863Ala, Gly863del; Asn1868Ile]" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000776967" "1" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Valkenburg 2019:31522899}" "" "c.[2588G>C; 5603A>T] p.[Gly863Ala, Gly863del; Asn1868Ile]" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000776968" "1" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Valkenburg 2019:31522899}" "" "c.[2588G>C; 5603A>T] p.[Gly863Ala, Gly863del; Asn1868Ile]" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000776969" "1" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Valkenburg 2019:31522899}" "" "c.[2588G>C; 5603A>T] p.[Gly863Ala, Gly863del; Asn1868Ile]" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000776970" "1" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Valkenburg 2019:31522899}" "" "c.[2588G>C; 5603A>T] p.[Gly863Ala, Gly863del; Asn1868Ile]" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000776971" "1" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Valkenburg 2019:31522899}" "" "c.[2588G>C; 5603A>T] p.[Gly863Ala, Gly863del; Asn1868Ile]" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000776972" "0" "90" "1" "94508316" "94510301" "del" "0" "01695" "ABCA4_000041" "g.(94506959_94508316)_(94510301_94512474)del" "" "{PMID:Valkenburg 2019:31522899}" "" "c.2919-?_3328+?del p.(Ser974Glnfs*64)" "" "Unknown" "" "" "0" "" "" "g.(94041403_94042760)_(94044745_94046918)del" "" "pathogenic (recessive)" ""
"0000776973" "0" "90" "1" "94508316" "94510301" "del" "0" "01695" "ABCA4_000041" "g.(94506959_94508316)_(94510301_94512474)del" "" "{PMID:Valkenburg 2019:31522899}" "" "c.2919-?_3328+?del p.(Ser974Glnfs*64)" "" "Unknown" "" "" "0" "" "" "g.(94041403_94042760)_(94044745_94046918)del" "" "pathogenic (recessive)" ""
"0000776974" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Valkenburg 2019:31522899}" "" "c.5882G>A p.(Gly1961Glu)" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000776975" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Valkenburg 2019:31522899}" "" "c.5882G>A p.(Gly1961Glu)" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000776976" "0" "90" "1" "94497333" "94497333" "subst" "0" "01695" "ABCA4_001221" "g.94497333C>T" "" "{PMID:Valkenburg 2019:31522899}{PMID:Lambertus 2017:28355279}" "" "c.4128+1G>A p.(?)" "" "Unknown" "" "" "0" "" "" "g.94031777C>T" "" "pathogenic (recessive)" ""
"0000776977" "0" "90" "1" "94497333" "94497333" "subst" "0" "01695" "ABCA4_001221" "g.94497333C>T" "" "{PMID:Valkenburg 2019:31522899}{PMID:Lambertus 2017:28355279}" "" "c.4128+1G>A p.(?)" "" "Unknown" "" "" "0" "" "" "g.94031777C>T" "" "pathogenic (recessive)" ""
"0000776978" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Valkenburg 2019:31522899}" "" "c.5882G>A p.(Gly1961Glu)" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000776979" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Valkenburg 2019:31522899}" "" "c.5882G>A p.(Gly1961Glu)" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000776980" "1" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Valkenburg 2019:31522899}" "" "c.[2588G>C; 5603A>T] p.[Gly863Ala, Gly863del; Asn1868Ile]" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000776981" "1" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Valkenburg 2019:31522899}" "" "c.[2588G>C; 5603A>T] p.[Gly863Ala, Gly863del; Asn1868Ile]" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000776982" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Valkenburg 2019:31522899}" "" "c.5882G>A p.(Gly1961Glu)" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000776983" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Valkenburg 2019:31522899}" "" "c.5882G>A p.(Gly1961Glu)" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000776984" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Valkenburg 2019:31522899}" "" "c.5603A>T p.(Asn1868Ile)" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000776985" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Valkenburg 2019:31522899}" "" "c.5603A>T" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000776986" "0" "70" "1" "94546780" "94546780" "subst" "0" "01695" "ABCA4_001271" "g.94546780C>G" "" "{PMID:Valkenburg 2019:31522899}" "" "c.859-506G>C" "" "Unknown" "" "" "0" "" "" "g.94081224C>G" "" "likely pathogenic (recessive)" ""
"0000776987" "0" "70" "1" "94546780" "94546780" "subst" "0" "01695" "ABCA4_001271" "g.94546780C>G" "" "{PMID:Valkenburg 2019:31522899}" "" "c.859-506G>C" "" "Unknown" "" "" "0" "" "" "g.94081224C>G" "" "likely pathogenic (recessive)" ""
"0000776988" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Valkenburg 2019:31522899}" "" "c.768G>T" "" "Unknown" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000776989" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Valkenburg 2019:31522899}" "" "c.768G>T" "" "Unknown" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000776990" "1" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Valkenburg 2019:31522899}" "" "c.[2588G>C; 5603A>T]" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000776991" "0" "90" "1" "94495000" "94495000" "subst" "0" "01695" "ABCA4_000164" "g.94495000C>A" "" "{PMID:Valkenburg 2019:31522899}" "" "c.4539+1G>T" "" "Unknown" "" "" "0" "" "" "g.94029444C>A" "" "pathogenic (recessive)" ""
"0000776992" "1" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Valkenburg 2019:31522899}" "" "c.[2588G>C; 5603A>T]" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000776993" "0" "90" "1" "94495000" "94495000" "subst" "0" "01695" "ABCA4_000164" "g.94495000C>A" "" "{PMID:Valkenburg 2019:31522899}" "" "c.4539+1G>T" "" "Unknown" "" "" "0" "" "" "g.94029444C>A" "" "pathogenic (recessive)" ""
"0000776994" "1" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Valkenburg 2019:31522899}" "" "c.[2588G>C; 5603A>T]" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000776995" "0" "90" "1" "94495000" "94495000" "subst" "0" "01695" "ABCA4_000164" "g.94495000C>A" "" "{PMID:Valkenburg 2019:31522899}" "" "c.4539+1G>T" "" "Unknown" "" "" "0" "" "" "g.94029444C>A" "" "pathogenic (recessive)" ""
"0000776996" "1" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Valkenburg 2019:31522899}" "" "c.[2588G>C; 5603A>T]" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000776997" "0" "90" "1" "94495000" "94495000" "subst" "0" "01695" "ABCA4_000164" "g.94495000C>A" "" "{PMID:Valkenburg 2019:31522899}" "" "c.4539+1G>T" "" "Unknown" "" "" "0" "" "" "g.94029444C>A" "" "pathogenic (recessive)" ""
"0000776998" "0" "90" "1" "94508433" "94508433" "subst" "0" "01695" "ABCA4_001300" "g.94508433G>T" "" "{PMID:Hu 2019:31543898}" "" "c.3212C>A" "" "Unknown" "" "" "0" "" "" "g.94042877G>T" "" "pathogenic (recessive)" ""
"0000776999" "0" "90" "1" "94466426" "94466426" "subst" "1.62433E-5" "01695" "ABCA4_000124" "g.94466426G>A" "" "{PMID:Hu 2019:31543898}" "" "c.6445C>T" "" "Unknown" "" "" "0" "" "" "g.94000870G>A" "" "pathogenic (recessive)" ""
"0000777000" "0" "90" "1" "94467413" "94467413" "subst" "0" "01695" "ABCA4_001276" "g.94467413C>T" "" "{PMID:Hu 2019:31543898}" "" "c.6282+1G>A" "" "Unknown" "" "" "0" "" "" "g.94001857C>T" "" "pathogenic (recessive)" ""
"0000777001" "0" "50" "1" "94578589" "94578594" "del" "0" "01695" "ABCA4_000249" "g.94578589_94578594del" "" "{PMID:Hu 2019:31543898}" "" "c.101_106delCTTTAT" "" "Unknown" "" "" "0" "" "" "g.94113033_94113038del" "" "VUS" ""
"0000777002" "0" "90" "1" "94528251" "94528251" "subst" "2.84824E-5" "01695" "ABCA4_000281" "g.94528251C>T" "" "{PMID:Hu 2019:31543898}" "" "c.1819G>A" "" "Unknown" "" "" "0" "" "" "g.94062695C>T" "" "pathogenic (recessive)" ""
"0000777003" "0" "90" "1" "94522362" "94522362" "del" "0" "01695" "ABCA4_001307" "g.94522362del" "" "{PMID:Hu 2019:31543898}" "" "c.2177delA" "" "Unknown" "" "" "0" "" "" "g.94056806del" "" "pathogenic (recessive)" ""
"0000777004" "0" "70" "1" "94543428" "94543428" "subst" "0" "01695" "ABCA4_001315" "g.94543428G>A" "" "{PMID:Hu 2019:31543898}" "" "c.1372C>T" "" "Unknown" "" "" "0" "" "" "g.94077872G>A" "" "likely pathogenic (recessive)" ""
"0000777005" "0" "70" "1" "94528164" "94528164" "subst" "0" "01695" "ABCA4_001311" "g.94528164G>T" "" "{PMID:Hu 2019:31543898}" "" "c.1906C>A" "" "Unknown" "" "" "0" "" "" "g.94062608G>T" "" "likely pathogenic (recessive)" ""
"0000777006" "0" "50" "1" "94543278" "94543278" "subst" "0.000178952" "01695" "ABCA4_000004" "g.94543278G>A" "" "{PMID:Hu 2019:31543898}" "" "c.1522C>T" "" "Unknown" "" "" "0" "" "" "g.94077722G>A" "" "VUS" ""
"0000777007" "0" "50" "1" "94543278" "94543278" "subst" "0.000178952" "01695" "ABCA4_000004" "g.94543278G>A" "" "{PMID:Hu 2019:31543898}" "" "c.1522C>T" "" "Unknown" "" "" "0" "" "" "g.94077722G>A" "" "VUS" ""
"0000777008" "0" "90" "1" "94546127" "94546127" "del" "0" "01695" "ABCA4_001320" "g.94546127del" "" "{PMID:Hu 2019:31543898}" "" "c.1006delT" "" "Unknown" "" "" "0" "" "" "g.94080571del" "" "pathogenic (recessive)" ""
"0000777009" "0" "90" "1" "94512619" "94512619" "subst" "0" "01695" "ABCA4_001305" "g.94512619C>T" "" "{PMID:Hu 2019:31543898}" "" "c.2774G>A" "" "Unknown" "" "" "0" "" "" "g.94047063C>T" "" "pathogenic (recessive)" ""
"0000777010" "0" "50" "1" "94578589" "94578594" "del" "0" "01695" "ABCA4_000249" "g.94578589_94578594del" "" "{PMID:Hu 2019:31543898}" "" "c.101_106delCTTTAT" "" "Unknown" "" "" "0" "" "" "g.94113033_94113038del" "" "VUS" ""
"0000777011" "0" "70" "1" "94528780" "94528780" "subst" "4.06171E-6" "01695" "ABCA4_000299" "g.94528780C>T" "" "{PMID:Hu 2019:31543898}" "" "c.1648G>A" "" "Unknown" "" "" "0" "" "" "g.94063224C>T" "" "likely pathogenic (recessive)" ""
"0000777012" "0" "90" "1" "94548907" "94548907" "subst" "4.07126E-6" "01695" "ABCA4_001322" "g.94548907C>A" "" "{PMID:Hu 2019:31543898}" "" "c.858+1G>T" "" "Unknown" "" "" "0" "" "" "g.94083351C>A" "" "pathogenic (recessive)" ""
"0000777013" "0" "50" "1" "94578589" "94578594" "del" "0" "01695" "ABCA4_000249" "g.94578589_94578594del" "" "{PMID:Hu 2019:31543898}" "" "c.101_106delCTTTAT" "" "Unknown" "" "" "0" "" "" "g.94113033_94113038del" "" "VUS" ""
"0000777014" "0" "50" "1" "94578589" "94578594" "del" "0" "01695" "ABCA4_000249" "g.94578589_94578594del" "" "{PMID:Hu 2019:31543898}" "" "c.101_106delCTTTAT" "" "Unknown" "" "" "0" "" "" "g.94113033_94113038del" "" "VUS" ""
"0000777015" "0" "50" "1" "94578589" "94578594" "del" "0" "01695" "ABCA4_000249" "g.94578589_94578594del" "" "{PMID:Hu 2019:31543898}" "" "c.101_106delCTTTAT" "" "Unknown" "" "" "0" "" "" "g.94113033_94113038del" "" "VUS" ""
"0000777016" "0" "90" "1" "94528668" "94528668" "subst" "0" "01695" "ABCA4_001313" "g.94528668C>T" "" "{PMID:Hu 2019:31543898}" "" "c.1760G>A" "" "Unknown" "" "" "0" "" "" "g.94063112C>T" "" "pathogenic (recessive)" ""
"0000777017" "0" "90" "1" "94528668" "94528668" "subst" "0" "01695" "ABCA4_001313" "g.94528668C>T" "" "{PMID:Hu 2019:31543898}" "" "c.1760G>A" "" "Unknown" "" "" "0" "" "" "g.94063112C>T" "" "pathogenic (recessive)" ""
"0000777018" "0" "50" "1" "94578589" "94578594" "del" "0" "01695" "ABCA4_000249" "g.94578589_94578594del" "" "{PMID:Hu 2019:31543898}" "" "c.101_106delCTTTAT" "" "Unknown" "" "" "0" "" "" "g.94113033_94113038del" "" "VUS" ""
"0000777019" "0" "70" "1" "94486959" "94486959" "subst" "0" "01695" "ABCA4_001285" "g.94486959A>G" "" "{PMID:Hu 2019:31543898}" "" "c.4855T>C" "" "Unknown" "" "" "0" "" "" "g.94021403A>G" "" "likely pathogenic (recessive)" ""
"0000777020" "0" "70" "1" "94578595" "94578595" "subst" "4.06471E-6" "01695" "ABCA4_001328" "g.94578595G>T" "" "{PMID:Hu 2019:31543898}" "" "c.94C>A" "" "Unknown" "" "" "0" "" "" "g.94113039G>T" "" "likely pathogenic (recessive)" ""
"0000777021" "0" "90" "1" "94528868" "94528868" "del" "0" "01695" "ABCA4_000304" "g.94528868del" "" "{PMID:Hu 2019:31543898}" "" "c.1561delG" "" "Unknown" "" "" "0" "" "" "g.94063312del" "" "pathogenic (recessive)" ""
"0000777022" "0" "90" "1" "94471026" "94471026" "subst" "1.21925E-5" "01695" "ABCA4_000791" "g.94471026G>A" "" "{PMID:Hu 2019:31543898}" "" "c.6118C>T" "" "Unknown" "" "" "0" "" "" "g.94005470G>A" "" "pathogenic (recessive)" ""
"0000777023" "0" "90" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Hu 2019:31543898}" "" "c.2894A>G" "" "Unknown" "" "" "0" "" "" "g.94046943T>C" "" "pathogenic (recessive)" ""
"0000777024" "0" "90" "1" "94520830" "94520830" "subst" "0" "01695" "ABCA4_000727" "g.94520830G>C" "" "{PMID:Hu 2019:31543898}" "" "c.2424C>G" "" "Unknown" "" "" "0" "" "" "g.94055274G>C" "" "pathogenic (recessive)" ""
"0000777025" "0" "70" "1" "94463583" "94463583" "subst" "8.12183E-6" "01695" "ABCA4_000806" "g.94463583A>G" "" "{PMID:Hu 2019:31543898}" "" "c.6563T>C" "" "Unknown" "" "" "0" "" "" "g.93998027A>G" "" "likely pathogenic (recessive)" ""
"0000777026" "0" "50" "1" "94528146" "94528146" "subst" "0" "01695" "ABCA4_000775" "g.94528146A>T" "" "{PMID:Hu 2019:31543898}" "" "c.1924T>A" "" "Unknown" "" "" "0" "" "" "g.94062590A>T" "" "VUS" ""
"0000777027" "0" "70" "1" "94506867" "94506867" "subst" "0" "01695" "ABCA4_001296" "g.94506867G>C" "" "{PMID:Hu 2019:31543898}" "" "c.3420C>G" "" "Unknown" "" "" "0" "" "" "g.94041311G>C" "" "likely pathogenic (recessive)" ""
"0000777028" "0" "70" "1" "94508383" "94508383" "subst" "0" "01695" "ABCA4_001299" "g.94508383G>T" "" "{PMID:Hu 2019:31543898}" "" "c.3262C>A" "" "Unknown" "" "" "0" "" "" "g.94042827G>T" "" "likely pathogenic (recessive)" ""
"0000777029" "0" "50" "1" "94528137" "94528137" "subst" "2.03363E-5" "01695" "ABCA4_000774" "g.94528137C>T" "" "{PMID:Hu 2019:31543898}" "" "c.1933G>A" "" "Unknown" "" "" "0" "" "" "g.94062581C>T" "" "VUS" ""
"0000777030" "0" "70" "1" "94578594" "94578594" "subst" "0" "01695" "ABCA4_001327" "g.94578594G>A" "" "{PMID:Hu 2019:31543898}" "" "c.95C>T" "" "Unknown" "" "" "0" "" "" "g.94113038G>A" "" "likely pathogenic (recessive)" ""
"0000777031" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Hu 2019:31543898}" "" "c.5882G>A" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000777032" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Hu 2019:31543898}" "" "c.1804C>T" "" "Unknown" "" "" "0" "" "" "g.94062710G>A" "" "pathogenic (recessive)" ""
"0000777033" "0" "50" "1" "94526230" "94526230" "subst" "7.32136E-5" "01695" "ABCA4_000760" "g.94526230C>T" "" "{PMID:Hu 2019:31543898}" "" "c.2023G>A" "" "Unknown" "" "" "0" "" "" "g.94060674C>T" "" "VUS" ""
"0000777034" "0" "70" "1" "94463583" "94463583" "subst" "8.12183E-6" "01695" "ABCA4_000806" "g.94463583A>G" "" "{PMID:Hu 2019:31543898}" "" "c.6563T>C" "" "Unknown" "" "" "0" "" "" "g.93998027A>G" "" "likely pathogenic (recessive)" ""
"0000777035" "0" "50" "1" "94466482" "94466482" "subst" "0" "01695" "ABCA4_000829" "g.94466482A>T" "" "{PMID:Hu 2019:31543898}" "" "c.6389T>A" "" "Unknown" "" "" "0" "" "" "g.94000926A>T" "" "VUS" ""
"0000777036" "0" "90" "1" "94502295" "94502295" "subst" "0" "01695" "ABCA4_000589" "g.94502295C>T" "" "{PMID:Hu 2019:31543898}" "" "c.3862+1G>A" "" "Unknown" "" "" "0" "" "" "g.94036739C>T" "" "pathogenic (recessive)" ""
"0000777037" "0" "90" "1" "94544142" "94544142" "subst" "0" "01695" "ABCA4_001316" "g.94544142T>C" "" "{PMID:Hu 2019:31543898}" "" "c.1356+4A>G" "" "Unknown" "" "" "0" "" "" "g.94078586T>C" "" "pathogenic (recessive)" ""
"0000777038" "0" "70" "1" "94463583" "94463583" "subst" "8.12183E-6" "01695" "ABCA4_000806" "g.94463583A>G" "" "{PMID:Hu 2019:31543898}" "" "c.6563T>C" "" "Unknown" "" "" "0" "" "" "g.93998027A>G" "" "likely pathogenic (recessive)" ""
"0000777039" "3" "50" "1" "94496053" "94496053" "subst" "0.00437371" "01695" "ABCA4_000556" "g.94496053G>A" "" "{PMID:Hu 2019:31543898}" "" "c.4283C>T" "" "Unknown" "" "" "0" "" "" "g.94030497G>A" "" "VUS" ""
"0000777040" "3" "50" "1" "94578589" "94578594" "del" "0" "01695" "ABCA4_000249" "g.94578589_94578594del" "" "{PMID:Hu 2019:31543898}" "" "c.101_106delCTTTAT" "" "Unknown" "" "" "0" "" "" "g.94113033_94113038del" "" "VUS" ""
"0000777041" "3" "50" "1" "94496053" "94496053" "subst" "0.00437371" "01695" "ABCA4_000556" "g.94496053G>A" "" "{PMID:Hu 2019:31543898}" "" "c.4283C>T" "" "Unknown" "" "" "0" "" "" "g.94030497G>A" "" "VUS" ""
"0000777042" "0" "90" "1" "94485284" "94485284" "del" "0" "01695" "ABCA4_001284" "g.94485284del" "" "{PMID:Hu 2019:31543898}" "" "c.5050delA" "" "Unknown" "" "" "0" "" "" "g.94019728del" "" "pathogenic (recessive)" ""
"0000777043" "0" "90" "1" "94546127" "94546127" "del" "0" "01695" "ABCA4_001320" "g.94546127del" "" "{PMID:Hu 2019:31543898}" "" "c.1006delT" "" "Unknown" "" "" "0" "" "" "g.94080571del" "" "pathogenic (recessive)" ""
"0000777044" "0" "90" "1" "94544142" "94544142" "subst" "0" "01695" "ABCA4_001316" "g.94544142T>C" "" "{PMID:Hu 2019:31543898}" "" "c.1356+4A>G" "" "Unknown" "" "" "0" "" "" "g.94078586T>C" "" "pathogenic (recessive)" ""
"0000777045" "0" "70" "1" "94476813" "94476813" "subst" "0" "01695" "ABCA4_000426" "g.94476813C>T" "" "{PMID:Hu 2019:31543898}" "" "c.5584+5G>A" "" "Unknown" "" "" "0" "" "" "g.94011257C>T" "" "likely pathogenic (recessive)" ""
"0000777046" "0" "50" "1" "94474381" "94474381" "subst" "1.21849E-5" "01695" "ABCA4_000410" "g.94474381C>T" "" "{PMID:Hu 2019:31543898}" "" "c.5761G>A" "" "Unknown" "" "" "0" "" "" "g.94008825C>T" "" "VUS" ""
"0000777047" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Hu 2019:31543898}" "" "c.1804C>T" "" "Unknown" "" "" "0" "" "" "g.94062710G>A" "" "pathogenic (recessive)" ""
"0000777048" "0" "90" "1" "94510223" "94510223" "del" "0" "01695" "ABCA4_001303" "g.94510223del" "" "{PMID:Hu 2019:31543898}" "" "c.2996delA" "" "Unknown" "" "" "0" "" "" "g.94044667del" "" "pathogenic (recessive)" ""
"0000777049" "0" "70" "1" "94486896" "94486896" "subst" "3.65562E-5" "01695" "ABCA4_000085" "g.94486896G>A" "" "{PMID:Hu 2019:31543898}" "" "c.4918C>T" "" "Unknown" "" "" "0" "" "" "g.94021340G>A" "" "likely pathogenic (recessive)" ""
"0000777050" "0" "70" "1" "94509027" "94509027" "subst" "4.06478E-6" "01695" "ABCA4_000661" "g.94509027T>C" "" "{PMID:Hu 2019:31543898}" "" "c.3055A>G" "" "Unknown" "" "" "0" "" "" "g.94043471T>C" "" "likely pathogenic (recessive)" ""
"0000777051" "0" "70" "1" "94508993" "94508993" "subst" "0" "01695" "ABCA4_001301" "g.94508993A>C" "" "{PMID:Hu 2019:31543898}" "" "c.3089T>G" "" "Unknown" "" "" "0" "" "" "g.94043437A>C" "" "likely pathogenic (recessive)" ""
"0000777052" "0" "70" "1" "94480095" "94480095" "subst" "4.06095E-6" "01695" "ABCA4_001281" "g.94480095T>A" "" "{PMID:Hu 2019:31543898}" "" "c.5460+4A>T" "" "Unknown" "" "" "0" "" "" "g.94014539T>A" "" "likely pathogenic (recessive)" ""
"0000777053" "0" "70" "1" "94476424" "94476424" "subst" "2.43694E-5" "01695" "ABCA4_000418" "g.94476424C>T" "" "{PMID:Hu 2019:31543898}" "" "c.5646G>A" "" "Unknown" "" "" "0" "" "" "g.94010868C>T" "" "likely pathogenic (recessive)" ""
"0000777054" "0" "50" "1" "94578589" "94578594" "del" "0" "01695" "ABCA4_000249" "g.94578589_94578594del" "" "{PMID:Hu 2019:31543898}" "" "c.101_106delCTTTAT" "" "Unknown" "" "" "0" "" "" "g.94113033_94113038del" "" "VUS" ""
"0000777055" "0" "90" "1" "94528251" "94528251" "subst" "2.84824E-5" "01695" "ABCA4_000281" "g.94528251C>T" "" "{PMID:Hu 2019:31543898}" "" "c.1819G>A" "" "Unknown" "" "" "0" "" "" "g.94062695C>T" "" "pathogenic (recessive)" ""
"0000777056" "0" "50" "1" "94578589" "94578594" "del" "0" "01695" "ABCA4_000249" "g.94578589_94578594del" "" "{PMID:Hu 2019:31543898}" "" "c.101_106delCTTTAT" "" "Unknown" "" "" "0" "" "" "g.94113033_94113038del" "" "VUS" ""
"0000777057" "0" "50" "1" "94466482" "94466482" "subst" "0" "01695" "ABCA4_000829" "g.94466482A>T" "" "{PMID:Hu 2019:31543898}" "" "c.6389T>A" "" "Unknown" "" "" "0" "" "" "g.94000926A>T" "" "VUS" ""
"0000777058" "0" "50" "1" "94578589" "94578594" "del" "0" "01695" "ABCA4_000249" "g.94578589_94578594del" "" "{PMID:Hu 2019:31543898}" "" "c.101_106delCTTTAT" "" "Unknown" "" "" "0" "" "" "g.94113033_94113038del" "" "VUS" ""
"0000777059" "0" "70" "1" "94510303" "94510304" "ins" "0" "01695" "ABCA4_001304" "g.94510303_94510304insTGTTTGGACCTG" "" "{PMID:Hu 2019:31543898}" "" "c.2923_2924insAACACAGGTCCA" "" "Unknown" "" "" "0" "" "" "g.94044747_94044748insTGTTTGGACCTG" "" "likely pathogenic (recessive)" ""
"0000777060" "0" "90" "1" "94497396" "94497396" "subst" "0" "01695" "ABCA4_001291" "g.94497396G>A" "" "{PMID:Hu 2019:31543898}" "" "c.4066C>T" "" "Unknown" "" "" "0" "" "" "g.94031840G>A" "" "pathogenic (recessive)" ""
"0000777061" "0" "90" "1" "94543419" "94543420" "del" "0" "01695" "ABCA4_001314" "g.94543419_94543420del" "" "{PMID:Hu 2019:31543898}" "" "c.1382_1383delAA" "" "Unknown" "" "" "0" "" "" "g.94077863_94077864del" "" "pathogenic (recessive)" ""
"0000777062" "0" "90" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Hu 2019:31543898}" "" "c.2894A>G" "" "Unknown" "" "" "0" "" "" "g.94046943T>C" "" "pathogenic (recessive)" ""
"0000777063" "0" "90" "1" "94526194" "94526194" "dup" "0" "01695" "ABCA4_001308" "g.94526194dup" "" "{PMID:Hu 2019:31543898}" "" "c.2063_2064insA" "" "Unknown" "" "" "0" "" "" "g.94060638dup" "" "pathogenic (recessive)" ""
"0000777064" "0" "50" "1" "94467506" "94467506" "subst" "3.24913E-5" "01695" "ABCA4_000785" "g.94467506C>T" "" "{PMID:Hu 2019:31543898}" "" "c.6190G>A" "" "Unknown" "" "" "0" "" "" "g.94001950C>T" "" "VUS" ""
"0000777065" "0" "70" "1" "94586549" "94586549" "subst" "0" "01695" "ABCA4_001329" "g.94586549C>G" "" "{PMID:Hu 2019:31543898}" "" "c.53G>C" "" "Unknown" "" "" "0" "" "" "g.94120993C>G" "" "likely pathogenic (recessive)" ""
"0000777066" "0" "90" "1" "94528868" "94528868" "del" "0" "01695" "ABCA4_000304" "g.94528868del" "" "{PMID:Hu 2019:31543898}" "" "c.1561delG" "" "Unknown" "" "" "0" "" "" "g.94063312del" "" "pathogenic (recessive)" ""
"0000777067" "0" "90" "1" "94528668" "94528668" "subst" "0" "01695" "ABCA4_001313" "g.94528668C>T" "" "{PMID:Hu 2019:31543898}" "" "c.1760G>A" "" "Unknown" "" "" "0" "" "" "g.94063112C>T" "" "pathogenic (recessive)" ""
"0000777068" "0" "90" "1" "94526194" "94526194" "dup" "0" "01695" "ABCA4_001308" "g.94526194dup" "" "{PMID:Hu 2019:31543898}" "" "c.2063_2064insA" "" "Unknown" "" "" "0" "" "" "g.94060638dup" "" "pathogenic (recessive)" ""
"0000777069" "0" "70" "1" "94577013" "94577013" "subst" "0" "01695" "ABCA4_001325" "g.94577013A>G" "" "{PMID:Hu 2019:31543898}" "" "c.283T>C" "" "Unknown" "" "" "0" "" "" "g.94111457A>G" "" "likely pathogenic (recessive)" ""
"0000777070" "0" "70" "1" "94480232" "94480232" "subst" "0" "01695" "ABCA4_000444" "g.94480232G>A" "" "{PMID:Hu 2019:31543898}" "" "c.5327C>T" "" "Unknown" "" "" "0" "" "" "g.94014676G>A" "" "likely pathogenic (recessive)" ""
"0000777071" "0" "50" "1" "94577132" "94577132" "subst" "0" "01695" "ABCA4_000239" "g.94577132T>C" "" "{PMID:Hu 2019:31543898}" "" "c.164A>G" "" "Unknown" "" "" "0" "" "" "g.94111576T>C" "" "VUS" ""
"0000777072" "0" "70" "1" "94506805" "94506805" "subst" "2.03051E-5" "01695" "ABCA4_001294" "g.94506805C>T" "" "{PMID:Hu 2019:31543898}" "" "c.3482G>A" "" "Unknown" "" "" "0" "" "" "g.94041249C>T" "" "likely pathogenic (recessive)" ""
"0000777073" "0" "70" "1" "94496020" "94496020" "subst" "0" "01695" "ABCA4_001289" "g.94496020C>A" "" "{PMID:Hu 2019:31543898}" "" "c.4316G>T" "" "Unknown" "" "" "0" "" "" "g.94030464C>A" "" "likely pathogenic (recessive)" ""
"0000777074" "0" "90" "1" "94485284" "94485284" "del" "0" "01695" "ABCA4_001284" "g.94485284del" "" "{PMID:Hu 2019:31543898}" "" "c.5050delA" "" "Unknown" "" "" "0" "" "" "g.94019728del" "" "pathogenic (recessive)" ""
"0000777075" "0" "50" "1" "94578589" "94578594" "del" "0" "01695" "ABCA4_000249" "g.94578589_94578594del" "" "{PMID:Hu 2019:31543898}" "" "c.101_106delCTTTAT" "" "Unknown" "" "" "0" "" "" "g.94113033_94113038del" "" "VUS" ""
"0000777076" "0" "70" "1" "94546150" "94546150" "subst" "4.06828E-6" "01695" "ABCA4_000346" "g.94546150T>A" "" "{PMID:Hu 2019:31543898}" "" "c.983A>T" "" "Unknown" "" "" "0" "" "" "g.94080594T>A" "" "likely pathogenic (recessive)" ""
"0000777077" "0" "70" "1" "94586560" "94586560" "subst" "0" "01695" "ABCA4_001330" "g.94586560G>T" "" "{PMID:Hu 2019:31543898}" "" "c.42C>A" "" "Unknown" "" "" "0" "" "" "g.94121004G>T" "" "likely pathogenic (recessive)" ""
"0000777078" "0" "70" "1" "94546163" "94546163" "subst" "0" "01695" "ABCA4_001321" "g.94546163A>G" "" "{PMID:Hu 2019:31543898}" "" "c.970T>C" "" "Unknown" "" "" "0" "" "" "g.94080607A>G" "" "likely pathogenic (recessive)" ""
"0000777079" "0" "90" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Hu 2019:31543898}" "" "c.2894A>G" "" "Unknown" "" "" "0" "" "" "g.94046943T>C" "" "pathogenic (recessive)" ""
"0000777080" "11" "90" "1" "94528666" "94528666" "subst" "0" "01695" "ABCA4_000289" "g.94528666A>C" "" "{PMID:Hu 2019:31543898}" "" "c.1760+2T>G" "" "Unknown" "yes" "" "0" "" "" "g.94063110A>C" "" "pathogenic (recessive)" ""
"0000777081" "11" "90" "1" "94528666" "94528666" "subst" "0" "01695" "ABCA4_000289" "g.94528666A>C" "" "{PMID:Hu 2019:31543898}" "" "c.1760+2T>G" "" "Unknown" "yes" "" "0" "" "" "g.94063110A>C" "" "pathogenic (recessive)" ""
"0000777082" "0" "10" "1" "94461717" "94461717" "subst" "0.0703199" "01695" "ABCA4_000003" "g.94461717C>A" "" "{PMID:Piccardi 2019:31618812}" "" "c.6764G>T, p.Ser2255Ile" "" "Unknown" "" "" "0" "" "" "g.93996161C>A" "" "benign" ""
"0000777083" "0" "70" "1" "94476872" "94476872" "subst" "0" "01695" "ABCA4_001685" "g.94476872C>A" "" "{PMID:Piccardi 2019:31618812}" "" "c.5530G>T;Gly1844Cys" "" "Unknown" "" "" "0" "" "" "g.94011316C>A" "" "likely pathogenic (recessive)" ""
"0000777084" "0" "90" "1" "94474420" "94474420" "subst" "0" "01695" "ABCA4_001661" "g.94474420C>A" "" "{PMID:Piccardi 2019:31618812}" "" "c.5722G>T; p.Glu1908X" "" "Unknown" "" "" "0" "" "" "g.94008864C>A" "" "pathogenic (recessive)" ""
"0000777085" "0" "90" "1" "94467511" "94467514" "del" "0" "01695" "ABCA4_001607" "g.94467511_94467514del" "" "{PMID:Piccardi 2019:31618812}" "" "(c.6184_6188delGTCT; p.Val2062fsX2113)" "" "Unknown" "" "" "0" "" "" "g.94001955_94001958del" "" "pathogenic (recessive)" ""
"0000777086" "0" "70" "1" "94495083" "94495083" "subst" "0.000124542" "01695" "ABCA4_000542" "g.94495083G>A" "" "{PMID:Piccardi 2019:31618812}" "" "c.4561C>T;P1486L" "" "Unknown" "" "" "0" "" "" "g.94029527G>A" "" "likely pathogenic (recessive)" ""
"0000777087" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Piccardi 2019:31618812}" "" "IVS40+5g>a" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000777088" "0" "90" "1" "94473189" "94473189" "subst" "0" "01695" "ABCA4_001632" "g.94473189C>G" "" "{PMID:Piccardi 2019:31618812}" "" "c.6005+1G>C" "" "Unknown" "" "" "0" "" "" "g.94007633C>G" "" "pathogenic (recessive)" ""
"0000777089" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Piccardi 2019:31618812}" "" "c.5882G>A; p.Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000777090" "0" "70" "1" "94520705" "94520705" "subst" "0" "01695" "ABCA4_000714" "g.94520705T>C" "" "{PMID:Piccardi 2019:31618812}" "" "c.2459A>G; p.Tyr850Cys" "" "Unknown" "" "" "0" "" "" "g.94055149T>C" "" "likely pathogenic (recessive)" ""
"0000777091" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Piccardi 2019:31618812}" "" "c.5882G>A; p.Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000777092" "0" "90" "1" "94495103" "94495103" "subst" "0" "01695" "ABCA4_001813" "g.94495103C>T" "" "{PMID:Piccardi 2019:31618812}" "" "c.4437G>A;p.Trp1479X" "" "Unknown" "" "" "0" "" "" "g.94029547C>T" "" "pathogenic (recessive)" ""
"0000777093" "0" "90" "1" "94471056" "94471056" "subst" "2.84398E-5" "01695" "ABCA4_000050" "g.94471056G>A" "" "{PMID:Piccardi 2019:31618812}" "" "6088C>T" "" "Unknown" "" "" "0" "" "" "g.94005500G>A" "" "pathogenic (recessive)" ""
"0000777094" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Piccardi 2019:31618812}" "" "IVS40+5G-A" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000777095" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Piccardi 2019:31618812}" "" "c.5882G>A; p.G1961E" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000777096" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Piccardi 2019:31618812}" "" "Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000777097" "0" "90" "1" "94526296" "94526296" "subst" "1.64555E-5" "01695" "ABCA4_000768" "g.94526296G>A" "" "{PMID:Piccardi 2019:31618812}" "" "R653C" "" "Unknown" "" "" "0" "" "" "g.94060740G>A" "" "pathogenic (recessive)" ""
"0000777098" "0" "70" "1" "94564432" "94564432" "subst" "0" "01695" "ABCA4_001029" "g.94564432A>G" "" "{PMID:Piccardi 2019:31618812}" "" "c.686T>C;p.Leu229Pro" "" "Unknown" "" "" "0" "" "" "g.94098876A>G" "" "likely pathogenic (recessive)" ""
"0000777099" "0" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "" "{PMID:Piccardi 2019:31618812}" "" "C1490Y" "" "Unknown" "" "" "0" "" "" "g.94029515C>T" "" "likely pathogenic (recessive)" ""
"0000777100" "0" "70" "1" "94497447" "94497470" "dup" "0" "01695" "ABCA4_001857" "g.94497447_94497470dup" "" "{PMID:Piccardi 2019:31618812}" "" "(c.3994_4017dup;p,.Gln1332_cys1339dup)Val2062ThrfsX52|" "" "Unknown" "" "" "0" "" "" "g.94031891_94031914dup" "" "likely pathogenic (recessive)" ""
"0000777101" "0" "70" "1" "94522239" "94522239" "subst" "2.03305E-5" "01695" "ABCA4_000736" "g.94522239A>T" "" "{PMID:Piccardi 2019:31618812}" "" "C7671>A; p.Val767Asp" "" "Unknown" "" "" "0" "" "" "g.94056683A>T" "" "likely pathogenic (recessive)" ""
"0000777102" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Piccardi 2019:31618812}" "" "Ivs40+5g>40" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000777103" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Piccardi 2019:31618812}" "" "c.5882G>A;p.Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000777104" "0" "90" "1" "94467413" "94467413" "subst" "8.12612E-6" "01695" "ABCA4_000131" "g.94467413C>G" "" "{PMID:Piccardi 2019:31618812}" "" "IVS45+1g>c" "" "Unknown" "" "" "0" "" "" "g.94001857C>G" "" "pathogenic (recessive)" ""
"0000777105" "0" "70" "1" "94512518" "94512518" "subst" "1.62517E-5" "01695" "ABCA4_000687" "g.94512518T>C" "" "{PMID:Piccardi 2019:31618812}" "" "c.2875A>G;p.Thr959Ala c.5882G>A;p.Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94046962T>C" "" "likely pathogenic (recessive)" ""
"0000777106" "0" "50" "1" "94466655" "94466655" "subst" "0" "01695" "ABCA4_000842" "g.94466655G>A" "" "{PMID:Dan 2019:31674661}" "" "c.6289C>T p.(Pro2097Ser)" "" "Unknown" "" "" "0" "" "" "g.94001099G>A" "" "VUS" ""
"0000777107" "11" "70" "1" "94508358" "94508358" "subst" "4.06167E-6" "01695" "ABCA4_000636" "g.94508358G>A" "" "{PMID:Dan 2019:31674661}" "" "c.3287C>T p.(Ser1096Leu)" "" "Unknown" "" "" "0" "" "" "g.94042802G>A" "" "likely pathogenic (recessive)" ""
"0000777108" "11" "90" "1" "94506764" "94506764" "subst" "0" "01695" "ABCA4_001173" "g.94506764C>T" "" "{PMID:Dan 2019:31674661}" "" "c.3522+1G>A" "" "Unknown" "" "" "0" "" "" "g.94041208C>T" "" "pathogenic (recessive)" ""
"0000777109" "21" "70" "1" "94490591" "94490591" "subst" "0" "01695" "ABCA4_001249" "g.94490591C>T" "" "{PMID:Dan 2019:31674661}" "" "c.4553G>A p.(Ser1518Asn)" "" "Unknown" "" "" "0" "" "" "g.94025035C>T" "" "likely pathogenic (recessive)" ""
"0000777110" "11" "90" "1" "94586580" "94586580" "subst" "0" "01695" "ABCA4_000260" "g.94586580G>A" "" "{PMID:Dan 2019:31674661}" "" "c.22C>T p.(Gln8*)" "" "Unknown" "" "" "0" "" "" "g.94121024G>A" "" "pathogenic (recessive)" ""
"0000777111" "11" "90" "1" "94495983" "94495983" "subst" "8.12348E-6" "01695" "ABCA4_000547" "g.94495983C>T" "" "{PMID:Dan 2019:31674661}" "" "c.4352+1G>A" "" "Unknown" "" "" "0" "" "" "g.94030427C>T" "" "pathogenic (recessive)" ""
"0000777112" "21" "70" "1" "94471061" "94471061" "subst" "0" "01695" "ABCA4_001247" "g.94471061G>A" "" "{PMID:Dan 2019:31674661}" "" "c.6083C>T p.(Thr2028Ile)" "" "Unknown" "" "" "0" "" "" "g.94005505G>A" "" "likely pathogenic (recessive)" ""
"0000777114" "0" "90" "1" "94497564" "94497564" "subst" "1.64383E-5" "01695" "ABCA4_000091" "g.94497564G>A" "" "{PMID:Khan 2019:31725702}" "" "c.3898C.T (p.Arg1300*)" "" "Unknown" "" "" "0" "" "" "g.94032008G>A" "" "pathogenic (recessive)" ""
"0000777115" "0" "90" "1" "94508343" "94508343" "subst" "4.06197E-6" "01695" "ABCA4_001924" "g.94508343C>T" "" "{PMID:Khan 2019:31725702}" "" "c.3302G.A (p.Trp1101*)" "" "Unknown" "" "" "0" "" "" "g.94042787C>T" "" "pathogenic (recessive)" ""
"0000777116" "0" "90" "1" "94487242" "94487242" "del" "0" "01695" "ABCA4_001170" "g.94487242del" "" "{PMID:Zenteno 2019:31736247}" "" "c.4804delA p.Ile1602TyrfsTer8" "" "Unknown" "" "" "0" "" "" "g.94021686del" "" "pathogenic (recessive)" ""
"0000777117" "0" "50" "1" "94480235" "94480235" "subst" "8.12236E-6" "01695" "ABCA4_000445" "g.94480235A>T" "" "{PMID:Zenteno 2019:31736247}" "" "c.5324T>A p.Ile1775Asn" "" "Unknown" "" "" "0" "" "" "g.94014679A>T" "" "VUS" ""
"0000777118" "0" "70" "1" "94480241" "94480241" "subst" "7.71705E-5" "01695" "ABCA4_000446" "g.94480241G>A" "" "{PMID:Zenteno 2019:31736247}" "" "c.5318C>T p.Ala1773Val" "" "Unknown" "" "" "0" "" "" "g.94014685G>A" "" "likely pathogenic (recessive)" ""
"0000777119" "0" "90" "1" "94485137" "94485137" "subst" "0" "01695" "ABCA4_000464" "g.94485137C>T" "" "{PMID:Zenteno 2019:31736247}" "" "c.5196+1G>A" "" "Unknown" "" "" "0" "" "" "g.94019581C>T" "" "pathogenic (recessive)" ""
"0000777204" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Reich 2019:31799409}" "" "c.5882G>A (p.Gly1961Glu)" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000777205" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Reich 2019:31799409}" "" "c.1622T>C (p.Leu541Pro) c.3113C>T (p.Ala1038Val)" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000777206" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Reich 2019:31799409}" "" "c.5882G>A (p.Gly1961Glu)" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000777207" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Reich 2019:31799409}{PMID:Reich 2020:33185728}" "" "c.5882G>A (p.Gly1961Glu)" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000777208" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Reich 2019:31799409}" "" "c.5603A>T (p.Asn1868Ile)" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000777209" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Reich 2019:31799409}" "" "c.5882G>A (p.Gly1961Glu)" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000777210" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Reich 2019:31799409}{PMID:Reich 2020:33185728}" "" "c.5882G>A (pGly1961Glu)" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000777211" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Reich 2019:31799409}{PMID:Reich 2020:33185728}" "" "c.5882G>A (p.Gly1961Glu)" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000777212" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Reich 2019:31799409}" "" "c.2588G>C (p.Gly863Ala)" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000777213" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Reich 2019:31799409}{PMID:Reich 2020:33185728}" "" "c.5882G>A (p.Gly1961Ala)" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000777214" "0" "90" "1" "94467460" "94467461" "del" "0" "01695" "ABCA4_000778" "g.94467460_94467461del" "" "{PMID:Reich 2019:31799409}{PMID:Reich 2020:33185728}" "" "c.6238_6239delTC (p.Ser2080HisfsX16)" "" "Unknown" "" "" "0" "" "" "g.94001904_94001905del" "" "pathogenic (recessive)" ""
"0000777215" "0" "90" "1" "94548906" "94548906" "subst" "0" "01695" "ABCA4_000358" "g.94548906A>T" "" "{PMID:Reich 2019:31799409}{PMID:Reich 2020:33185728}" "" "c.858+2T>A" "" "Unknown" "" "" "0" "" "" "g.94083350A>T" "" "pathogenic (recessive)" ""
"0000777216" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Reich 2019:31799409}" "" "c.3113C>T (p.Ala1038Val)" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000777217" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Reich 2019:31799409}{PMID:Reich 2020:33185728}" "" "c.5714+5G>A" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000777218" "0" "90" "1" "94512474" "94514514" "del" "0" "01695" "ABCA4_002887" "g.(94510301_94512474)_(94514514_94517188)del" "" "{PMID:Reich 2019:31799409}{PMID:Reich 2020:33185728}" "" "Deletion exon 18-19" "" "Unknown" "" "" "0" "" "" "g.(94044745_94046918)_(94048958_94051632)del" "" "pathogenic (recessive)" ""
"0000777219" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Reich 2019:31799409}" "" "c.3113C>T (p.Ala1038Val)" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000777220" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Reich 2019:31799409}" "" "c.5461-10T>C c.5606C>T (p.Pro1869Leu)" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000777221" "0" "70" "1" "94476464" "94476464" "subst" "4.06266E-5" "01695" "ABCA4_001205" "g.94476464G>A" "" "{PMID:Reich 2019:31799409}" "" "c.5461-10T>C c.5606C>T (p.Pro1869Leu)" "" "Unknown" "" "" "0" "" "" "g.94010908G>A" "" "likely pathogenic (recessive)" ""
"0000777222" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Reich 2019:31799409}" "" "c.5461-10T>C" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000777223" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Reich 2019:31799409}{PMID:Reich 2020:33185728}" "" "c.5714+5G>A" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000777224" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Reich 2019:31799409}{PMID:Reich 2020:33185728}" "" "c.5882G>A (p.Gly1961Glu)" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000777225" "0" "90" "1" "94467460" "94467461" "del" "0" "01695" "ABCA4_000778" "g.94467460_94467461del" "" "{PMID:Reich 2019:31799409}{PMID:Reich 2020:33185728}" "" "c.6238_6239delTC (p.Ser2080HisfsX16)" "" "Unknown" "" "" "0" "" "" "g.94001904_94001905del" "" "pathogenic (recessive)" ""
"0000777226" "0" "90" "1" "94467460" "94467461" "del" "0" "01695" "ABCA4_000778" "g.94467460_94467461del" "" "{PMID:Reich 2019:31799409}{PMID:Reich 2020:33185728}" "" "c.6238_6239delTC (p.Ser2080HisfsX16)" "" "Unknown" "" "" "0" "" "" "g.94001904_94001905del" "" "pathogenic (recessive)" ""
"0000777227" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Reich 2019:31799409}{PMID:Reich 2020:33185728}" "" "c.5882G>A (p.Gly1961Glu)" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000777228" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Reich 2019:31799409}{PMID:Reich 2020:33185728}" "" "c.5882G>A (p.Gly1961Glu)" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000777229" "0" "50" "1" "94528137" "94528137" "subst" "2.03363E-5" "01695" "ABCA4_000774" "g.94528137C>T" "" "{PMID:Joo 2019:31814693}" "" "c.1933G>A" "" "Unknown" "" "" "0" "" "" "g.94062581C>T" "" "VUS" ""
"0000777230" "0" "70" "1" "94506938" "94506938" "subst" "0" "01695" "ABCA4_001343" "g.94506938T>C" "" "{PMID:Joo 2019:31814693}" "" "c.3349A>G" "" "Unknown" "" "" "0" "" "" "g.94041382T>C" "" "likely pathogenic (recessive)" ""
"0000777231" "0" "90" "1" "94528666" "94528666" "subst" "0" "01695" "ABCA4_000289" "g.94528666A>C" "" "{PMID:Joo 2019:31814693}" "" "c.1760+2T>G" "" "Unknown" "" "" "0" "" "" "g.94063110A>C" "" "pathogenic (recessive)" ""
"0000777232" "0" "70" "1" "94506949" "94506951" "del" "0" "01695" "ABCA4_001344" "g.94506949_94506951del" "" "{PMID:Joo 2019:31814693}" "" "c.3420C>G c.3342_3344delCAT" "" "Unknown" "" "" "0" "" "" "g.94041393_94041395del" "" "likely pathogenic (recessive)" ""
"0000777233" "0" "70" "1" "94506949" "94506951" "del" "0" "01695" "ABCA4_001344" "g.94506949_94506951del" "" "{PMID:Joo 2019:31814693}" "" "c.3342_3344delCAT" "" "Unknown" "" "" "0" "" "" "g.94041393_94041395del" "" "likely pathogenic (recessive)" ""
"0000777234" "0" "50" "1" "94546264" "94546264" "subst" "4.08077E-6" "01695" "ABCA4_001352" "g.94546264C>T" "" "{PMID:Joo 2019:31814693}" "" "c.869G>A" "" "Unknown" "" "" "0" "" "" "g.94080708C>T" "" "VUS" ""
"0000777235" "0" "90" "1" "94506817" "94506817" "subst" "0" "01695" "ABCA4_001342" "g.94506817A>C" "" "{PMID:Joo 2019:31814693}" "" "c.3470T>G" "" "Unknown" "" "" "0" "" "" "g.94041261A>C" "" "pathogenic (recessive)" ""
"0000777236" "0" "90" "1" "94546253" "94546253" "subst" "0" "01695" "ABCA4_001351" "g.94546253G>A" "" "{PMID:Joo 2019:31814693}" "" "c.880C>T" "" "Unknown" "" "" "0" "" "" "g.94080697G>A" "" "pathogenic (recessive)" ""
"0000777237" "0" "70" "1" "94528164" "94528164" "subst" "0" "01695" "ABCA4_001311" "g.94528164G>T" "" "{PMID:Joo 2019:31814693}" "" "c.1906C>A" "" "Unknown" "" "" "0" "" "" "g.94062608G>T" "" "likely pathogenic (recessive)" ""
"0000777238" "0" "70" "1" "94528164" "94528164" "subst" "0" "01695" "ABCA4_001311" "g.94528164G>T" "" "{PMID:Joo 2019:31814693}" "" "c.1906C>A" "" "Unknown" "" "" "0" "" "" "g.94062608G>T" "" "likely pathogenic (recessive)" ""
"0000777239" "0" "70" "1" "94577082" "94577082" "subst" "2.84315E-5" "01695" "ABCA4_000232" "g.94577082C>T" "" "{PMID:Rehman 2019:31877759}" "" "c.214G>A p.Gly72Arg" "" "Unknown" "" "" "0" "" "" "g.94111526C>T" "" "likely pathogenic (recessive)" ""
"0000777240" "0" "70" "1" "94577082" "94577082" "subst" "2.84315E-5" "01695" "ABCA4_000232" "g.94577082C>T" "" "{PMID:Rehman 2019:31877759}" "" "c.214G>A p.Gly72Arg" "" "Unknown" "" "" "0" "" "" "g.94111526C>T" "" "likely pathogenic (recessive)" ""
"0000777241" "0" "70" "1" "94577082" "94577082" "subst" "2.84315E-5" "01695" "ABCA4_000232" "g.94577082C>T" "" "{PMID:Rehman 2019:31877759}" "" "c.214G>A p.Gly72Arg" "" "Unknown" "" "" "0" "" "" "g.94111526C>T" "" "likely pathogenic (recessive)" ""
"0000777242" "0" "70" "1" "94577082" "94577082" "subst" "2.84315E-5" "01695" "ABCA4_000232" "g.94577082C>T" "" "{PMID:Rehman 2019:31877759}" "" "c.214G>A p.Gly72Arg" "" "Unknown" "" "" "0" "" "" "g.94111526C>T" "" "likely pathogenic (recessive)" ""
"0000777243" "0" "70" "1" "94577082" "94577082" "subst" "2.84315E-5" "01695" "ABCA4_000232" "g.94577082C>T" "" "{PMID:Rehman 2019:31877759}" "" "c.214G>A p.Gly72Arg" "" "Unknown" "" "" "0" "" "" "g.94111526C>T" "" "likely pathogenic (recessive)" ""
"0000777244" "0" "70" "1" "94577082" "94577082" "subst" "2.84315E-5" "01695" "ABCA4_000232" "g.94577082C>T" "" "{PMID:Rehman 2019:31877759}" "" "c.214G>A p.Gly72Arg" "" "Unknown" "" "" "0" "" "" "g.94111526C>T" "" "likely pathogenic (recessive)" ""
"0000777245" "0" "70" "1" "94577082" "94577082" "subst" "2.84315E-5" "01695" "ABCA4_000232" "g.94577082C>T" "" "{PMID:Rehman 2019:31877759}" "" "c.214G>A p.Gly72Arg" "" "Unknown" "" "" "0" "" "" "g.94111526C>T" "" "likely pathogenic (recessive)" ""
"0000777246" "0" "70" "1" "94577082" "94577082" "subst" "2.84315E-5" "01695" "ABCA4_000232" "g.94577082C>T" "" "{PMID:Rehman 2019:31877759}" "" "c.214G>A p.Gly72Arg" "" "Unknown" "" "" "0" "" "" "g.94111526C>T" "" "likely pathogenic (recessive)" ""
"0000777247" "0" "70" "1" "94577082" "94577082" "subst" "2.84315E-5" "01695" "ABCA4_000232" "g.94577082C>T" "" "{PMID:Rehman 2019:31877759}" "" "c.214G>A p.Gly72Arg" "" "Unknown" "" "" "0" "" "" "g.94111526C>T" "" "likely pathogenic (recessive)" ""
"0000777248" "0" "70" "1" "94577082" "94577082" "subst" "2.84315E-5" "01695" "ABCA4_000232" "g.94577082C>T" "" "{PMID:Rehman 2019:31877759}" "" "c.214G>A p.Gly72Arg" "" "Unknown" "" "" "0" "" "" "g.94111526C>T" "" "likely pathogenic (recessive)" ""
"0000777249" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Müller 2019:31879568}{PMID:Müller 2020:32891696}{PMID:Müller 2020:32751377}" "" "E15 c.2300T>A/p.(Val767Asp) E42 c.5882G>A/p.(Gly1961Glu)" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000777250" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Müller 2019:31879568}{PMID:Müller 2020:32891696}{PMID:Müller 2020:32751377}" "" "E3 c.194G>A/p.(Gly65Glu) E17 c.2588G>C/p.(Gly963Ala)" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000777251" "0" "50" "1" "94485257" "94485257" "subst" "0.00017945" "01695" "ABCA4_000100" "g.94485257C>T" "" "{PMID:Mandal 2005:16123440}" "" "G5077A Val1693Ile" "" "Unknown" "" "" "0" "" "" "g.94019701C>T" "" "VUS" ""
"0000777252" "0" "70" "1" "94480232" "94480232" "subst" "0" "01695" "ABCA4_000444" "g.94480232G>A" "" "{PMID:Mandal 2005:16123440}" "" "C5327T Pro1776Leu" "" "Unknown" "" "" "0" "" "" "g.94014676G>A" "" "likely pathogenic (recessive)" ""
"0000777253" "0" "90" "1" "94496084" "94496084" "subst" "0" "01695" "ABCA4_000011" "g.94496084T>C" "" "{PMID:Neveling 2012:22334370}" "" "M2 = c.4254?2A>G (p.(?))" "" "Unknown" "yes" "" "0" "" "" "g.94030528T>C" "" "pathogenic (recessive)" ""
"0000777254" "1" "70" "1" "94480178" "94480178" "subst" "2.43692E-5" "01695" "ABCA4_000005" "g.94480178G>T" "" "{PMID:Neveling 2012:22334370}" "" "M2 = c.6529G>A (p.(D2177N))" "" "Unknown" "" "" "0" "" "" "g.94014622G>T" "" "likely pathogenic (recessive)" ""
"0000777255" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Neveling 2012:22334370}" "" "M2 = c.5603A>T (p.(N1868I))" "" "Unknown" "yes" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000777256" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Müller 2020:31917732}{PMID:Müller 2020:32751377}" "" "c.5603A>T/p.(Asn1868Ile)" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000777257" "0" "70" "1" "94528179" "94528179" "subst" "0" "01695" "ABCA4_001433" "g.94528179C>T" "" "{PMID:Müller 2020:31917732}" "" "c.1891G>A/p.(Gly631Arg)" "" "Unknown" "" "" "0" "" "" "g.94062623C>T" "" "likely pathogenic (recessive)" ""
"0000777258" "0" "90" "1" "94528167" "94528167" "subst" "0" "01695" "ABCA4_000268" "g.94528167G>A" "" "{PMID:Müller 2020:31917732}" "" "c.1903C>T/p.(Gln635*)" "" "Unknown" "" "" "0" "" "" "g.94062611G>A" "" "pathogenic (recessive)" ""
"0000777259" "0" "70" "1" "94471055" "94471055" "subst" "0.00035346" "01695" "ABCA4_000029" "g.94471055C>T" "" "{PMID:Müller 2020:31917732}" "" "c.6089G>A/p.(Arg2030Gln)" "" "Unknown" "" "" "0" "" "" "g.94005499C>T" "" "likely pathogenic (recessive)" ""
"0000777260" "0" "90" "1" "94508384" "94508384" "subst" "0" "01695" "ABCA4_000641" "g.94508384T>G" "" "{PMID:Müller 2020:31917732}" "" "c.3261A>C/p.(Glu1087Asp)" "" "Unknown" "" "" "0" "" "" "g.94042828T>G" "" "pathogenic (recessive)" ""
"0000777261" "0" "90" "1" "94508384" "94508384" "subst" "0" "01695" "ABCA4_000641" "g.94508384T>G" "" "{PMID:Müller 2020:31917732}" "" "c.3261A>C/p.(Glu1087Asp)" "" "Unknown" "" "" "0" "" "" "g.94042828T>G" "" "pathogenic (recessive)" ""
"0000777262" "1" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Müller 2020:31917732}" "" "c.5461-10T>C // c.5603A>T/p.(Asn1868Ile)" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000777263" "1" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Müller 2020:31917732}" "" "c.5461-10T>C // c.5603A>T/p.(Asn1868Ile)" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000777264" "0" "70" "1" "94473266" "94473266" "subst" "8.14677E-6" "01695" "ABCA4_000389" "g.94473266C>T" "" "{PMID:Müller 2020:31917732}" "" "c.5929G>A/p.(Gly1977Ser )// c.6079C>T/p.(Leu2027Phe)" "" "Unknown" "" "" "0" "" "" "g.94007710C>T" "" "likely pathogenic (recessive)" ""
"0000777265" "0" "70" "1" "94466664" "94466664" "subst" "0" "01695" "ABCA4_001590" "g.94466664G>T" "" "{PMID:Müller 2020:31917732}" "" "c.6283-3C>A" "" "Unknown" "" "" "0" "" "" "g.94001108G>T" "" "likely pathogenic (recessive)" ""
"0000777266" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Müller 2020:31917732}" "" "c.5603A>T/p.(Asn1868Ile)" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000777267" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Müller 2020:31917732}" "" "c.5603A>T/p.(Asn1868Ile)" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000777268" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Müller 2020:31917732}" "" "c.1622T>C/p.(Leu541Pro) // c.3113C>T/p.(Ala1038Val)" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000777269" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Müller 2020:31917732}" "" "c.5882G>A/p.(Gly1961Glu)" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000777270" "0" "90" "1" "94508433" "94508433" "subst" "8.12209E-6" "01695" "ABCA4_000151" "g.94508433G>A" "" "{PMID:Müller 2020:31917732}" "" "c.3212C>T/p.(Ser1071Leu)" "" "Unknown" "" "" "0" "" "" "g.94042877G>A" "" "pathogenic (recessive)" ""
"0000777271" "2" "70" "1" "94512481" "94512481" "subst" "4.06524E-6" "01695" "ABCA4_000679" "g.94512481G>T" "" "{PMID:Raj 2020:31934596}" "" "c.C2912A, c.G5882A T971A,G1961E" "" "Unknown" "yes" "" "0" "" "" "g.94046925G>T" "" "likely pathogenic (recessive)" ""
"0000777272" "2" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Raj 2020:31934596}" "" "c.C2912A, c.G5882A T971A,G1961E" "" "Unknown" "yes" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000777273" "2" "90" "1" "94463488" "94463488" "subst" "5.2803E-5" "01695" "ABCA4_000802" "g.94463488G>A" "" "{PMID:Raj 2020:31934596}" "" "c.C6658T Q2220Ter" "" "Unknown" "yes" "" "0" "" "" "g.93997932G>A" "" "pathogenic (recessive)" ""
"0000777274" "1" "90" "1" "94487272" "94487272" "subst" "0" "01695" "ABCA4_001756" "g.94487272T>C" "" "{PMID:Raj 2020:31934596}" "" "c.C3830T/ c.4774-2A>G T1277M" "no variant 2nd chromosome" "Unknown" "yes" "" "0" "" "" "g.94021716T>C" "" "pathogenic (recessive)" ""
"0000777275" "2" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Raj 2020:31934596}" "" "c.G5882A G1961E" "" "Unknown" "yes" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000777276" "2" "70" "1" "94508322" "94508322" "subst" "1.62513E-5" "01695" "ABCA4_000128" "g.94508322C>T" "" "{PMID:Raj 2020:31934596}" "" "c.G3323A A1108H" "" "Unknown" "yes" "" "0" "" "" "g.94042766C>T" "" "likely pathogenic (recessive)" ""
"0000777277" "2" "70" "1" "94512481" "94512481" "subst" "4.06524E-6" "01695" "ABCA4_000679" "g.94512481G>T" "" "{PMID:Raj 2020:31934596}" "" "c.C2912A T971A" "" "Unknown" "yes" "" "0" "" "" "g.94046925G>T" "" "likely pathogenic (recessive)" ""
"0000777278" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cho 2020:32000842}" "" "c.5882G>A" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000777279" "0" "50" "1" "94544977" "94544977" "subst" "0.000544432" "01695" "ABCA4_000332" "g.94544977A>T" "" "{PMID:Cho 2020:32000842}" "" "c.1140" "" "Unknown" "" "" "0" "" "" "g.94079421A>T" "" "VUS" ""
"0000777280" "11" "70" "1" "94490550" "94490550" "subst" "0.000105588" "01695" "ABCA4_000523" "g.94490550C>T" "" "{PMID:Cho 2020:32000842}" "" "c.4594G>A p.(Asp1532Asn)" "" "Unknown" "" "" "0" "" "" "g.94024994C>T" "" "likely pathogenic (recessive)" ""
"0000777281" "0" "90" "1" "94471056" "94471056" "subst" "2.84398E-5" "01695" "ABCA4_000050" "g.94471056G>A" "" "{PMID:Liu 2020:32090030}" "" "c.6088C>T p.R2030*" "" "Unknown" "" "" "0" "" "" "g.94005500G>A" "" "pathogenic (recessive)" ""
"0000777282" "0" "70" "1" "94473808" "94473808" "subst" "8.52861E-5" "01695" "ABCA4_000196" "g.94473808C>T" "" "{PMID:Liu 2020:32090030}" "" "c.5881G>A p.G1961R" "" "Unknown" "" "" "0" "" "" "g.94008252C>T" "" "likely pathogenic (recessive)" ""
"0000777283" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Zanolli 2020:32141364}" "" "c.5461-10T>C" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000777284" "0" "50" "1" "94458738" "94458738" "subst" "0" "01695" "ABCA4_001553" "g.94458738C>T" "" "{PMID:Zanolli 2020:32141364}" "" "c.*55G>A" "" "Unknown" "" "" "0" "" "" "g.93993182C>T" "" "VUS" ""
"0000777285" "0" "70" "1" "94480227" "94480227" "subst" "0" "01695" "ABCA4_001701" "g.94480227T>C" "" "{PMID:Zanolli 2020:32141364}" "" "c.5332A>G" "" "Unknown" "" "" "0" "" "" "g.94014671T>C" "" "likely pathogenic (recessive)" ""
"0000777286" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Zanolli 2020:32141364}" "" "3386G>T" "" "Unknown" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000777287" "0" "70" "1" "94480227" "94480227" "subst" "0" "01695" "ABCA4_001701" "g.94480227T>C" "" "{PMID:Zanolli 2020:32141364}" "" "c.5332A>G" "" "Unknown" "" "" "0" "" "" "g.94014671T>C" "" "likely pathogenic (recessive)" ""
"0000777288" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Zanolli 2020:32141364}" "" "c.3113C>T" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000777289" "0" "50" "1" "94564350" "94564350" "subst" "0" "01695" "ABCA4_002173" "g.94564350C>G" "" "{PMID:Zanolli 2020:32141364}" "" "c.768G>C" "" "Unknown" "" "" "0" "" "" "g.94098794C>G" "" "VUS" ""
"0000777290" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Zanolli 2020:32141364}" "" "c.3113C>T" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000777291" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Zanolli 2020:32141364}" "" "c.3113C>T" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000777292" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Zanolli 2020:32141364}" "" "c.3113C>T" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000777293" "0" "90" "1" "94528132" "94528132" "subst" "4.06835E-6" "01695" "ABCA4_000773" "g.94528132C>T" "" "{PMID:Zanolli 2020:32141364}" "" "c.1937+1G>A" "" "Unknown" "" "" "0" "" "" "g.94062576C>T" "" "pathogenic (recessive)" ""
"0000777294" "0" "70" "1" "94574187" "94574187" "subst" "0" "01695" "ABCA4_002212" "g.94574187G>T" "" "{PMID:Zanolli 2020:32141364}" "" "c.388C>A" "" "Unknown" "" "" "0" "" "" "g.94108631G>T" "" "likely pathogenic (recessive)" ""
"0000777295" "0" "50" "1" "94564350" "94564350" "subst" "0" "01695" "ABCA4_002173" "g.94564350C>G" "" "{PMID:Zanolli 2020:32141364}" "" "c.768G>C" "" "Unknown" "" "" "0" "" "" "g.94098794C>G" "" "VUS" ""
"0000777296" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Light 2017:28099317}" "" "5714+5G>A" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000777297" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Light 2017:28099317}" "" "5714+5G>A" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000777298" "0" "70" "1" "94495008" "94495008" "subst" "0" "01695" "ABCA4_001802" "g.94495008G>T" "" "{PMID:Light 2017:28099317}" "" "c.4532C>A" "" "Unknown" "" "" "0" "" "" "g.94029452G>T" "" "likely pathogenic (recessive)" ""
"0000777299" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Light 2017:28099317}" "" "c.5882G>A" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000777300" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Light 2017:28099317}" "" "p>G1961E" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000777301" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Light 2017:28099317}{PMID:Cai 2018:29126757}" "" "c.5882G>A" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000777302" "0" "90" "1" "94508435" "94508436" "dup" "0" "01695" "ABCA4_000998" "g.94508435_94508436dup" "" "{PMID:Light 2017:28099317}{PMID:Cai 2018:29126757}" "" "c.3210_3211insTG" "" "Unknown" "" "" "0" "" "" "g.94042879_94042880dup" "" "pathogenic (recessive)" ""
"0000777303" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Light 2017:28099317}" "" "c.5882G>A" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000777304" "0" "50" "1" "94487490" "94487490" "subst" "0.00122268" "01695" "ABCA4_000506" "g.94487490A>G" "" "{PMID:Light 2017:28099317}" "" "c.4685T>C" "" "Unknown" "" "" "0" "" "" "g.94021934A>G" "" "VUS" ""
"0000777305" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Light 2017:28099317}{PMID:Cai 2018:29126757}" "" "IVS38-10T>C" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000777306" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Light 2017:28099317}" "" "c.6079C>T" "" "Unknown" "" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic (recessive)" ""
"0000777307" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Light 2017:28099317}" "" "c.3758C>T; c.5822G>A" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000777308" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Light 2017:28099317}" "" "c.4139C>T;" "" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000777309" "0" "70" "1" "94466461" "94466461" "subst" "0" "01695" "ABCA4_000825" "g.94466461C>T" "" "{PMID:de Castro-Miró 2014:24516651}" "" "c.6410G.A p.C2137Y" "" "Unknown" "" "" "0" "" "" "g.94000905C>T" "" "likely pathogenic (recessive)" ""
"0000777310" "0" "70" "1" "94480241" "94480241" "subst" "7.71705E-5" "01695" "ABCA4_000446" "g.94480241G>A" "" "{PMID:Xu 2014:24938718}" "" "c.[858+2T>A(;)5318C>T]" "" "Unknown" "" "" "0" "" "" "g.94014685G>A" "" "likely pathogenic (recessive)" ""
"0000777311" "1" "70" "1" "94508976" "94508976" "subst" "1.21906E-5" "01695" "ABCA4_000655" "g.94508976C>T" "" "{PMID:Xu 2014:24938718}" "" "c.[983A>T;3106G>A];[2063dupA]" "" "Unknown" "" "" "0" "" "" "g.94043420C>T" "" "likely pathogenic (recessive)" ""
"0000777312" "2" "90" "1" "94526194" "94526194" "dup" "0" "01695" "ABCA4_001308" "g.94526194dup" "" "{PMID:Xu 2014:24938718}" "" "c.[983A>T;3106G>A];[2063dupA]" "" "Unknown" "" "" "0" "" "" "g.94060638dup" "" "pathogenic (recessive)" ""
"0000777313" "1" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Midgley 2020:32913387}" "" "[c.5603A>T; c.4469G>A]" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000777314" "2" "70" "1" "94508341" "94508341" "subst" "1.21857E-5" "01695" "ABCA4_001298" "g.94508341C>A" "" "{PMID:Midgley 2020:32913387}" "" "c.3304G>T" "" "Unknown" "" "" "0" "" "" "g.94042785C>A" "" "likely pathogenic (recessive)" ""
"0000777315" "1" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Midgley 2020:32913387}" "" "[c.5603A>T; c.4469G>A]" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000777316" "2" "70" "1" "94471037" "94471037" "subst" "0" "01695" "ABCA4_001062" "g.94471037T>C" "" "{PMID:Midgley 2020:32913387}" "" "c.6107A>G" "" "Unknown" "" "" "0" "" "" "g.94005481T>C" "" "likely pathogenic (recessive)" ""
"0000777317" "1" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Midgley 2020:32913387}" "" "[c.5603A>T; c.5461–10T>C]" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000777318" "2" "90" "1" "94510253" "94510253" "subst" "0.000247694" "01695" "ABCA4_000108" "g.94510253A>G" "" "{PMID:Midgley 2020:32913387}" "" "c.2966T>C" "" "Unknown" "" "" "0" "" "" "g.94044697A>G" "" "pathogenic (recessive)" ""
"0000777319" "1" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Midgley 2020:32913387}" "" "[c.5603A>T; c.5461–10T>C]" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000777320" "2" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Midgley 2020:32913387}" "" "c.1804C>T" "" "Unknown" "" "" "0" "" "" "g.94062710G>A" "" "pathogenic (recessive)" ""
"0000777321" "1" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Midgley 2020:32913387}" "" "[c.2588G>C; c.5603A>T]" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000777322" "2" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Midgley 2020:32913387}" "" "c.768G>T" "" "Unknown" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000777323" "1" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "" "{PMID:Midgley 2020:32913387}" "" "[c.5603A>T; c.4469G>A]" "" "Unknown" "" "" "0" "" "" "g.94029515C>T" "" "likely pathogenic (recessive)" ""
"0000777324" "2" "90" "1" "94568687" "94568687" "subst" "1.62641E-5" "01695" "ABCA4_000024" "g.94568687G>A" "" "{PMID:Midgley 2020:32913387}" "" "c.454C>T" "" "Unknown" "" "" "0" "" "" "g.94103131G>A" "" "pathogenic (recessive)" ""
"0000777325" "1" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "" "{PMID:Midgley 2020:32913387}" "" "[c.5603A>T; c.4469G>A]" "" "Unknown" "" "" "0" "" "" "g.94029515C>T" "" "likely pathogenic (recessive)" ""
"0000777326" "2" "70" "1" "94496636" "94496636" "subst" "4.06296E-6" "01695" "ABCA4_000159" "g.94496636A>G" "" "{PMID:Midgley 2020:32913387}" "" "c.4169T>C" "" "Unknown" "" "" "0" "" "" "g.94031080A>G" "" "likely pathogenic (recessive)" ""
"0000777327" "1" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "" "{PMID:Midgley 2020:32913387}" "" "[c.5603A>T; c.4469G>A]" "" "Unknown" "" "" "0" "" "" "g.94029515C>T" "" "likely pathogenic (recessive)" ""
"0000777328" "2" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Midgley 2020:32913387}" "" "c.5714+5G>A" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000777329" "1" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Midgley 2020:32913387}" "" "[c.5603A>T; c.5461–10T>C]" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000777330" "2" "90" "1" "94568687" "94568687" "subst" "1.62641E-5" "01695" "ABCA4_000024" "g.94568687G>A" "" "{PMID:Midgley 2020:32913387}" "" "c.454C>T" "" "Unknown" "" "" "0" "" "" "g.94103131G>A" "" "pathogenic (recessive)" ""
"0000777331" "1" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Midgley 2020:32913387}" "" "[c.5603A>T; c.5461–10T>C]" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000777332" "2" "90" "1" "94509026" "94509026" "subst" "4.06497E-5" "01695" "ABCA4_000660" "g.94509026G>A" "" "{PMID:Midgley 2020:32913387}" "" "c.3056C>T" "" "Unknown" "" "" "0" "" "" "g.94043470G>A" "" "pathogenic (recessive)" ""
"0000777333" "1" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Midgley 2020:32913387}" "" "[c.2588G>C; c.5603A>T]" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000777334" "2" "90" "1" "94568687" "94568687" "subst" "1.62641E-5" "01695" "ABCA4_000024" "g.94568687G>A" "" "{PMID:Midgley 2020:32913387}" "" "c.454C>T" "" "Unknown" "" "" "0" "" "" "g.94103131G>A" "" "pathogenic (recessive)" ""
"0000777335" "2" "10" "1" "94467407" "94467407" "subst" "0.0756573" "01695" "ABCA4_000846" "g.94467407C>T" "" "{PMID:Midgley 2020:32913387}" "" "[c.6282+7G>A>A,c.4319T>C]" "" "Unknown" "" "" "0" "" "" "g.94001851C>T" "" "benign" ""
"0000777336" "1" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Midgley 2020:32913387}" "" "[c.2588G>C; c.5603A>T]" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000777337" "2" "70" "1" "94496017" "94496017" "subst" "4.06075E-6" "01695" "ABCA4_000130" "g.94496017A>G" "" "{PMID:Midgley 2020:32913387}" "" "[c.6282+7G>A>A,c.4319T>C]" "" "Unknown" "" "" "0" "" "" "g.94030461A>G" "" "likely pathogenic (recessive)" ""
"0000777338" "1" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "" "{PMID:Midgley 2020:32913387}" "" "[c.5603A>T, c.4469G>A]" "" "Unknown" "" "" "0" "" "" "g.94029515C>T" "" "likely pathogenic (recessive)" ""
"0000777339" "2" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Midgley 2020:32913387}" "" "[c.5603A>T; c.2588G>C]" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000777340" "1" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Midgley 2020:32913387}" "" "[c.2588G>C; c.5603A>T]" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000777341" "1" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "" "{PMID:Midgley 2020:32913387}" "" "[c.5603A>T; c.4469G>A]" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94029515C>T" "" "likely pathogenic (recessive)" ""
"0000777342" "1" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "" "{PMID:Midgley 2020:32913387}" "" "[c.5603A>T; c.4469G>A]" "" "Unknown" "" "" "0" "" "" "g.94029515C>T" "" "likely pathogenic (recessive)" ""
"0000777343" "2" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Midgley 2020:32913387}" "" "c.768G>T" "" "Unknown" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000777344" "3" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Midgley 2020:32913387}" "" "[c.5603A>T; c.5461–10T>C]" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000777345" "1" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "" "{PMID:Midgley 2020:32913387}" "" "[c.5603A>T; c.4469G>A]" "" "Unknown" "" "" "0" "" "" "g.94029515C>T" "" "likely pathogenic (recessive)" ""
"0000777346" "2" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Midgley 2020:32913387}" "" "c.6079C>T" "" "Unknown" "" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic (recessive)" ""
"0000777347" "2" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Midgley 2020:32913387}" "" "[c.5603A>T; c.5461–10T>C]" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000777348" "1" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "" "{PMID:Midgley 2020:32913387}" "" "[c.5603A>T; c.4469G>A]" "" "Unknown" "" "" "0" "" "" "g.94029515C>T" "" "likely pathogenic (recessive)" ""
"0000777349" "2" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Midgley 2020:32913387}" "" "[c.5603A>T; c.5461–10T>C]" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000777350" "1" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "" "{PMID:Midgley 2020:32913387}" "" "[c.5603A>T;c.4469G>A]" "" "Unknown" "" "" "0" "" "" "g.94029515C>T" "" "likely pathogenic (recessive)" ""
"0000777351" "2" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Midgley 2020:32913387}" "" "c.1804C>T" "" "Unknown" "" "" "0" "" "" "g.94062710G>A" "" "pathogenic (recessive)" ""
"0000777352" "3" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "" "{PMID:Midgley 2020:32913387}" "" "[c.5603A>T; c.4469G>A]" "" "Unknown" "" "" "0" "" "" "g.94029515C>T" "" "likely pathogenic (recessive)" ""
"0000777353" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Müller 2020:32891696}{PMID:Müller 2020:32751377}{PMID:Gliem 2020:32646556}" "" "c.5603A>T / p.(Asn1868IIe)" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000777354" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Hull 2020:32856788}" "" "c.6079C>T p.Leu2027Phe" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic (recessive)" ""
"0000777355" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Hull 2020:32856788}" "" "c.5882G>A p.Gly1961Glu" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000777356" "11" "70" "1" "94546261" "94546261" "subst" "0.000648567" "01695" "ABCA4_000353" "g.94546261G>A" "" "{PMID:Hull 2020:32856788}" "" "c.872C>T p.Pro291leu (paternal)" "" "Unknown" "yes" "" "0" "" "" "g.94080705G>A" "" "likely pathogenic (recessive)" ""
"0000777357" "0" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "" "{PMID:Hull 2020:32856788}" "" "c.4469G>A p.Cys1490Tyr" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94029515C>T" "" "likely pathogenic (recessive)" ""
"0000777358" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Hull 2020:32856788}" "" "c.6079C>T p.Leu2027Phe" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic (recessive)" ""
"0000777359" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Hull 2020:32856788}" "" "c.2588G>C p.Gly863Ala" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000777360" "0" "70" "1" "94476890" "94476890" "subst" "4.06227E-6" "01695" "ABCA4_000126" "g.94476890G>T" "" "{PMID:Hull 2020:32856788}" "" "c.5512C>A p.His1838Asn" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94011334G>T" "" "likely pathogenic (recessive)" ""
"0000777361" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Hull 2020:32856788}" "" "c.5882G>A p.Gly1961Glu" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000777362" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Hull 2020:32856788}" "" "c.5461-10T>C p.?" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000777363" "11" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Hull 2020:32856788}" "" "c.1622T>C c.3113C>T p.Leu541Pro (paternal) p.Ala1038Val (paternal))" "" "Unknown" "yes" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000777364" "21" "70" "1" "94476842" "94476842" "subst" "2.43764E-5" "01695" "ABCA4_001682" "g.94476842C>A" "" "{PMID:Hull 2020:32856788}" "" "c.5882G>A c.5560G>T p.Gly1961Glu (maternal) p.Val1854Leu (maternal)" "" "Unknown" "yes" "" "0" "" "" "g.94011286C>A" "" "likely pathogenic (recessive)" ""
"0000777365" "21" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Hull 2020:32856788}" "" "c.5882G>A c.5560G>T p.Gly1961Glu (maternal) p.Val1854Leu (maternal)" "" "Unknown" "yes" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000777366" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Hull 2020:32856788}" "" "c.2588G>C p.Gly863Ala" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000777367" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Hull 2020:32856788}" "" "c.4139C>T p.Pro1380Leu" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000777368" "0" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "" "{PMID:Hull 2020:32856788}" "" "c.4469G>A p.Cys1490Tyr" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94029515C>T" "" "likely pathogenic (recessive)" ""
"0000777369" "0" "90" "1" "94508435" "94508436" "dup" "0" "01695" "ABCA4_000998" "g.94508435_94508436dup" "" "{PMID:Hull 2020:32856788}" "" "c.3210_3211dupGT p.Ser1071Cysfs*14" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94042879_94042880dup" "" "pathogenic (recessive)" ""
"0000777370" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Hull 2020:32856788}" "" "c.5461-10T>C p.?" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000777371" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Hull 2020:32856788}" "" "c.5461-10T>C p.?" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000777372" "0" "70" "1" "94466422" "94466422" "subst" "2.43651E-5" "01695" "ABCA4_000817" "g.94466422C>T" "" "{PMID:Hull 2020:32856788}" "" "c.6449G>A p.Cys2150Tyr" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94000866C>T" "" "likely pathogenic (recessive)" ""
"0000777373" "21" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "" "{PMID:Hull 2020:32856788}" "" "c.4469G>A p.Cys1490Tyr (maternal)" "" "Unknown" "yes" "" "0" "" "" "g.94029515C>T" "" "likely pathogenic (recessive)" ""
"0000777374" "20" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Hull 2020:32856788}" "" "c.6079C>T p.Leu2027Phe" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic (recessive)" ""
"0000777375" "0" "70" "1" "94496583" "94496583" "subst" "2.03092E-5" "01695" "ABCA4_000190" "g.94496583A>G" "" "{PMID:Hull 2020:32856788}" "" "c.4222T>C p.Trp1408Arg" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94031027A>G" "" "likely pathogenic (recessive)" ""
"0000777376" "0" "50" "1" "94496580" "94496580" "subst" "0" "01695" "ABCA4_000564" "g.94496580T>C" "" "{PMID:Hull 2020:32856788}" "" "c.4225A>G p.Ile1409Val" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94031024T>C" "" "VUS" ""
"0000777377" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Hull 2020:32856788}" "" "c.5461-10T>C p.?" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000777378" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Hull 2020:32856788}" "" "c.5461-10T>C p.?" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000777379" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Hull 2020:32856788}" "" "c.6079C>T p.Leu2027Phe" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic (recessive)" ""
"0000777380" "21" "50" "1" "94474432" "94474432" "subst" "2.85339E-5" "01695" "ABCA4_001663" "g.94474432A>G" "" "{PMID:Hull 2020:32856788}" "" "c.5715-5T>C p.? (maternal)" "" "Unknown" "yes" "" "0" "" "" "g.94008876A>G" "" "VUS" ""
"0000777381" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Hull 2020:32856788}" "" "c.5882G>A p.Gly1961Glu" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000777382" "21" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "" "{PMID:Hull 2020:32856788}" "" "c.4469G>A p.Cys1490Tyr" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94029515C>T" "" "likely pathogenic (recessive)" ""
"0000777383" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Hull 2020:32856788}" "" "c.5461-10T>C p.?" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000777384" "0" "90" "1" "94490606" "94490606" "subst" "4.06091E-6" "01695" "ABCA4_000086" "g.94490606T>C" "" "{PMID:Hull 2020:32856788}" "" "c.4540-2A>G p.?" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94025050T>C" "" "pathogenic (recessive)" ""
"0000777385" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Hull 2020:32856788}" "" "c.5714+5G>A p.?" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000777386" "0" "70" "1" "94484001" "94484001" "subst" "0" "01695" "ABCA4_000016" "g.94484001C>T" "" "{PMID:Hull 2020:32856788}" "" "c.5196+1137G>A p.?" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94018445C>T" "" "likely pathogenic (recessive)" ""
"0000777387" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Hull 2020:32856788}" "" "c.5461-10T>C p.?" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000777388" "0" "90" "1" "94577055" "94577056" "del" "0" "01695" "ABCA4_000229" "g.94577055_94577056del" "" "{PMID:Liu 2020:32845068}" "" "c.240_241del" "" "Unknown" "yes" "" "0" "" "" "g.94111499_94111500del" "" "pathogenic (recessive)" ""
"0000777389" "0" "70" "1" "94480241" "94480241" "subst" "7.71705E-5" "01695" "ABCA4_000446" "g.94480241G>A" "" "{PMID:Liu 2020:32845068}" "" "c.5318C>T" "" "Unknown" "yes" "" "0" "" "" "g.94014685G>A" "" "likely pathogenic (recessive)" ""
"0000777390" "0" "90" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Liu 2020:32845068}" "" "c.2894A>G" "" "Unknown" "yes" "" "0" "" "" "g.94046943T>C" "" "pathogenic (recessive)" ""
"0000777391" "0" "90" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Liu 2020:32845068}" "" "c.2894A>G" "" "Unknown" "yes" "" "0" "" "" "g.94046943T>C" "" "pathogenic (recessive)" ""
"0000777392" "0" "90" "1" "94528311" "94528311" "subst" "0" "01695" "ABCA4_001138" "g.94528311T>C" "" "{PMID:Liu 2020:32845068}" "" "c.1761-2A>G" "" "Unknown" "yes" "" "0" "" "" "g.94062755T>C" "" "pathogenic (recessive)" ""
"0000777393" "0" "50" "1" "94578589" "94578594" "del" "0" "01695" "ABCA4_000249" "g.94578589_94578594del" "" "{PMID:Liu 2020:32845068}" "" "c.101_106del" "" "Unknown" "yes" "" "0" "" "" "g.94113033_94113038del" "" "VUS" ""
"0000777394" "0" "70" "1" "94522278" "94522278" "subst" "0" "01695" "ABCA4_001306" "g.94522278A>G" "" "{PMID:Liu 2020:32845068}" "" "c.2261T>C" "" "Unknown" "yes" "" "0" "" "" "g.94056722A>G" "" "likely pathogenic (recessive)" ""
"0000777395" "0" "90" "1" "94544895" "94544895" "subst" "1.62455E-5" "01695" "ABCA4_000329" "g.94544895G>A" "" "{PMID:Liu 2020:32845068}" "" "c.1222C>T" "" "Unknown" "yes" "" "0" "" "" "g.94079339G>A" "" "pathogenic (recessive)" ""
"0000777396" "0" "70" "1" "94528178" "94528178" "subst" "4.06666E-6" "01695" "ABCA4_001312" "g.94528178C>A" "" "{PMID:Liu 2020:32845068}" "" "c.1892G>T" "" "Unknown" "yes" "" "0" "" "" "g.94062622C>A" "" "likely pathogenic (recessive)" ""
"0000777397" "0" "50" "1" "94474381" "94474381" "subst" "1.21849E-5" "01695" "ABCA4_000410" "g.94474381C>T" "" "{PMID:Liu 2020:32845068}" "" "c.5761G>A" "" "Unknown" "yes" "" "0" "" "" "g.94008825C>T" "" "VUS" ""
"0000777398" "0" "70" "1" "94506811" "94506811" "subst" "0" "01695" "ABCA4_001295" "g.94506811A>G" "" "{PMID:Liu 2020:32845068}" "" "c.3476T>C" "" "Unknown" "yes" "" "0" "" "" "g.94041255A>G" "" "likely pathogenic (recessive)" ""
"0000777399" "0" "70" "1" "94505659" "94505659" "subst" "0.000942724" "01695" "ABCA4_000921" "g.94505659C>A" "" "{PMID:Liu 2020:32845068}" "" "c.3547G>T" "" "Unknown" "yes" "" "0" "" "" "g.94040103C>A" "" "likely pathogenic (recessive)" ""
"0000777400" "0" "70" "1" "94510259" "94510259" "subst" "0" "01695" "ABCA4_001968" "g.94510259A>C" "" "{PMID:Liu 2020:32845068}" "" "c.2960T>G" "" "Unknown" "yes" "" "0" "" "" "g.94044703A>C" "" "likely pathogenic (recessive)" ""
"0000777401" "0" "90" "1" "94528868" "94528868" "del" "0" "01695" "ABCA4_000304" "g.94528868del" "" "{PMID:Liu 2020:32845068}" "" "c.1561del" "" "Unknown" "yes" "" "0" "" "" "g.94063312del" "" "pathogenic (recessive)" ""
"0000777402" "0" "90" "1" "94544895" "94544895" "subst" "1.62455E-5" "01695" "ABCA4_000329" "g.94544895G>A" "" "{PMID:Liu 2020:32845068}" "" "c.1222C>T" "" "Unknown" "yes" "" "0" "" "" "g.94079339G>A" "" "pathogenic (recessive)" ""
"0000777403" "0" "90" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Liu 2020:32845068}" "" "c.2894A>G" "" "Unknown" "yes" "" "0" "" "" "g.94046943T>C" "" "pathogenic (recessive)" ""
"0000777404" "0" "90" "1" "94546127" "94546127" "del" "0" "01695" "ABCA4_001320" "g.94546127del" "" "{PMID:Liu 2020:32845068}" "" "c.1006del" "" "Unknown" "yes" "" "0" "" "" "g.94080571del" "" "pathogenic (recessive)" ""
"0000777405" "0" "70" "1" "94471094" "94471094" "subst" "0" "01695" "ABCA4_001629" "g.94471094C>T" "" "{PMID:Liu 2020:32845068}" "" "c.6050G>A c.634C>T" "" "Unknown" "yes" "" "0" "" "" "g.94005538C>T" "" "likely pathogenic (recessive)" ""
"0000777406" "0" "90" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Liu 2020:32845068}" "" "c.6050G>A c.634C>T" "" "Unknown" "yes" "" "0" "" "" "g.94098928G>A" "" "pathogenic (recessive)" ""
"0000777407" "0" "90" "1" "94528311" "94528311" "subst" "0" "01695" "ABCA4_001138" "g.94528311T>C" "" "{PMID:Liu 2020:32845068}" "" "c.1761-2A>G" "" "Unknown" "yes" "" "0" "" "" "g.94062755T>C" "" "pathogenic (recessive)" ""
"0000777408" "0" "70" "1" "94466661" "94466661" "subst" "0" "01695" "ABCA4_001587" "g.94466661C>G" "" "{PMID:Liu 2020:32845068}" "" "c.6283G>C" "" "Unknown" "yes" "" "0" "" "" "g.94001105C>G" "" "likely pathogenic (recessive)" ""
"0000777409" "0" "70" "1" "94528680" "94528680" "subst" "0" "01695" "ABCA4_002088" "g.94528680T>G" "" "{PMID:Liu 2020:32845068}" "" "c.1748A>C" "" "Unknown" "yes" "" "0" "" "" "g.94063124T>G" "" "likely pathogenic (recessive)" ""
"0000777410" "0" "70" "1" "94508358" "94508358" "subst" "4.06167E-6" "01695" "ABCA4_000636" "g.94508358G>A" "" "{PMID:Liu 2020:32845068}" "" "c.3287C>T" "" "Unknown" "yes" "" "0" "" "" "g.94042802G>A" "" "likely pathogenic (recessive)" ""
"0000777411" "0" "70" "1" "94506902" "94506902" "subst" "1.21834E-5" "01695" "ABCA4_000623" "g.94506902G>A" "" "{PMID:Liu 2020:32845068}" "" "c.3385C>T" "" "Unknown" "yes" "" "0" "" "" "g.94041346G>A" "" "likely pathogenic (recessive)" ""
"0000777412" "0" "70" "1" "94586549" "94586549" "subst" "0" "01695" "ABCA4_001329" "g.94586549C>G" "" "{PMID:Liu 2020:32845068}" "" "c.53G>C" "" "Unknown" "yes" "" "0" "" "" "g.94120993C>G" "" "likely pathogenic (recessive)" ""
"0000777413" "0" "70" "1" "94506923" "94506923" "subst" "2.43657E-5" "01695" "ABCA4_000012" "g.94506923C>T" "" "{PMID:Liu 2020:32845068}" "" "c.3364G>A" "" "Unknown" "yes" "" "0" "" "" "g.94041367C>T" "" "likely pathogenic (recessive)" ""
"0000777414" "0" "70" "1" "94496588" "94496588" "subst" "0" "01695" "ABCA4_000567" "g.94496588T>C" "" "{PMID:Liu 2020:32845068}" "" "c.4217A>G" "" "Unknown" "yes" "" "0" "" "" "g.94031032T>C" "" "likely pathogenic (recessive)" ""
"0000777415" "0" "70" "1" "94506805" "94506805" "subst" "2.03051E-5" "01695" "ABCA4_001294" "g.94506805C>T" "" "{PMID:Liu 2020:32845068}" "" "c.3482G>A" "" "Unknown" "yes" "" "0" "" "" "g.94041249C>T" "" "likely pathogenic (recessive)" ""
"0000777416" "0" "90" "1" "94528251" "94528251" "subst" "2.84824E-5" "01695" "ABCA4_000281" "g.94528251C>T" "" "{PMID:Liu 2020:32845068}" "" "c.1819G>A" "" "Unknown" "yes" "" "0" "" "" "g.94062695C>T" "" "pathogenic (recessive)" ""
"0000777417" "0" "70" "1" "94577093" "94577093" "subst" "8.12394E-6" "01695" "ABCA4_000147" "g.94577093G>A" "" "{PMID:Liu 2020:32845068}" "" "c.203C>T" "" "Unknown" "yes" "" "0" "" "" "g.94111537G>A" "" "likely pathogenic (recessive)" ""
"0000777418" "0" "90" "1" "94463527" "94463527" "subst" "0" "01695" "ABCA4_001570" "g.94463527G>A" "" "{PMID:Liu 2020:32845068}" "" "c.6619C>T" "" "Unknown" "yes" "" "0" "" "" "g.93997971G>A" "" "pathogenic (recessive)" ""
"0000777419" "0" "70" "1" "94508976" "94508976" "subst" "1.21906E-5" "01695" "ABCA4_000655" "g.94508976C>T" "" "{PMID:Liu 2020:32845068}" "" "c.3106G>A" "" "Unknown" "yes" "" "0" "" "" "g.94043420C>T" "" "likely pathogenic (recessive)" ""
"0000777420" "0" "70" "1" "94528671" "94528671" "subst" "0" "01695" "ABCA4_001409" "g.94528671T>C" "" "{PMID:Liu 2020:32845068}" "" "c.1757A>G" "" "Unknown" "yes" "" "0" "" "" "g.94063115T>C" "" "likely pathogenic (recessive)" ""
"0000777421" "0" "70" "1" "94506811" "94506811" "subst" "0" "01695" "ABCA4_001295" "g.94506811A>G" "" "{PMID:Liu 2020:32845068}" "" "c.3476T>C" "" "Unknown" "yes" "" "0" "" "" "g.94041255A>G" "" "likely pathogenic (recessive)" ""
"0000777422" "0" "90" "1" "94574274" "94574274" "subst" "0" "01695" "ABCA4_002218" "g.94574274T>C" "" "{PMID:Liu 2020:32845068}" "" "c.303-2A>G" "" "Unknown" "yes" "" "0" "" "" "g.94108718T>C" "" "pathogenic (recessive)" ""
"0000777423" "0" "90" "1" "94506960" "94506960" "subst" "0" "01695" "ABCA4_000629" "g.94506960T>C" "" "{PMID:Liu 2020:32845068}" "" "c.3329-2A>G" "" "Unknown" "yes" "" "0" "" "" "g.94041404T>C" "" "pathogenic (recessive)" ""
"0000777424" "0" "90" "1" "94528311" "94528311" "subst" "0" "01695" "ABCA4_001138" "g.94528311T>C" "" "{PMID:Liu 2020:32845068}" "" "c.1761-2A>G" "" "Unknown" "yes" "" "0" "" "" "g.94062755T>C" "" "pathogenic (recessive)" ""
"0000777425" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Melillo 2020:32821503}" "" "IVS40+5G>A" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000777426" "0" "90" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Melillo 2020:32821503}" "" "R2107H; L949R" "" "Unknown" "" "" "0" "" "" "g.94001068C>T" "" "pathogenic (recessive)" ""
"0000777427" "0" "70" "1" "94512547" "94512547" "subst" "0" "01695" "ABCA4_001987" "g.94512547A>C" "" "{PMID:Melillo 2020:32821503}" "" "R2107H; L949R" "" "Unknown" "" "" "0" "" "" "g.94046991A>C" "" "likely pathogenic (recessive)" ""
"0000777428" "0" "90" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Melillo 2020:32821503}" "" "R2107H; L949R" "" "Unknown" "" "" "0" "" "" "g.94001068C>T" "" "pathogenic (recessive)" ""
"0000777429" "0" "70" "1" "94512547" "94512547" "subst" "0" "01695" "ABCA4_001987" "g.94512547A>C" "" "{PMID:Melillo 2020:32821503}" "" "R2107H; L949R" "" "Unknown" "" "" "0" "" "" "g.94046991A>C" "" "likely pathogenic (recessive)" ""
"0000777430" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Melillo 2020:32821503}" "" "5714+5G>A" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000777431" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Melillo 2020:32821503}" "" "G1961E; D498N; 4017ins24bp" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000777432" "0" "50" "1" "94543308" "94543308" "subst" "2.43815E-5" "01695" "ABCA4_002118" "g.94543308C>T" "" "{PMID:Melillo 2020:32821503}" "" "G1961E; D498N; 4017ins24bp" "" "Unknown" "" "" "0" "" "" "g.94077752C>T" "" "VUS" ""
"0000777433" "0" "70" "1" "94497445" "94497446" "ins" "0" "01695" "ABCA4_001856" "g.94497445_94497446insN[24]" "" "{PMID:Melillo 2020:32821503}" "" "G1961E; D498N; 4017ins24bp" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000777434" "0" "90" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Melillo 2020:32821503}" "" "R2107H; L949R" "" "Unknown" "" "" "0" "" "" "g.94001068C>T" "" "pathogenic (recessive)" ""
"0000777435" "0" "70" "1" "94512547" "94512547" "subst" "0" "01695" "ABCA4_001987" "g.94512547A>C" "" "{PMID:Melillo 2020:32821503}" "" "R2107H; L949R" "" "Unknown" "" "" "0" "" "" "g.94046991A>C" "" "likely pathogenic (recessive)" ""
"0000777436" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Melillo 2020:32821503}" "" "L541P/A1038V;" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000777437" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Melillo 2020:32821503}" "" "IVS40+5G->A" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000777438" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Melillo 2020:32821503}" "" "L541P/A1038V" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000777439" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Melillo 2020:32821503}" "" "; G1961E" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000777440" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Melillo 2020:32821503}" "" "L541P/A1038V" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000777441" "0" "50" "1" "94526289" "94526289" "subst" "0.000417202" "01695" "ABCA4_000767" "g.94526289A>C" "" "{PMID:Melillo 2020:32821503}" "" "; F655C" "" "Unknown" "" "" "0" "" "" "g.94060733A>C" "" "VUS" ""
"0000777442" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Melillo 2020:32821503}" "" "G1961E; 402ins24bp" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000777443" "0" "70" "1" "94574173" "94574174" "ins" "0" "01695" "ABCA4_002210" "g.94574173_94574174insN[24]" "" "{PMID:Melillo 2020:32821503}" "" "G1961E; 402ins24bp" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000777444" "2" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Jennings 2020:32810830}" "" "c.[768G>T];[6079C>T]" "" "Unknown" "" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic (recessive)" ""
"0000777445" "0" "70" "1" "94522153" "94522153" "subst" "0" "01695" "ABCA4_000974" "g.94522153T>C" "" "{PMID:Méjécase 2020:32783370}" "" "c.2382+4A>G Splice Het" "" "Unknown" "" "" "0" "" "" "g.94056597T>C" "" "likely pathogenic (recessive)" ""
"0000777446" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Méjécase 2020:32783370}" "" "c.5461-10T>C Splice Het" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000777447" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Méjécase 2020:32783370}" "" "c.5882G>A p.(Gly1961Glu) Het c.2570T>C p.(Leu857Pro)a Het" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000777448" "0" "70" "1" "94520684" "94520684" "subst" "0" "01695" "ABCA4_001069" "g.94520684A>G" "" "{PMID:Méjécase 2020:32783370}" "" "c.5882G>A p.(Gly1961Glu) Het c.2570T>C p.(Leu857Pro)a Het" "" "Unknown" "" "" "0" "" "" "g.94055128A>G" "" "likely pathogenic (recessive)" ""
"0000777449" "0" "70" "1" "94466564" "94466564" "subst" "0" "01695" "ABCA4_001579" "g.94466564G>A" "" "{PMID:Méjécase 2020:32783370}" "" "c.6380C>T p.(Ser2127Phe) Het c.6148G>C p.(Val2050Leu) Het" "" "Unknown" "" "" "0" "" "" "g.94001008G>A" "" "likely pathogenic (recessive)" ""
"0000777450" "0" "50" "1" "94467548" "94467548" "subst" "0.00295661" "01695" "ABCA4_000788" "g.94467548C>G" "" "{PMID:Méjécase 2020:32783370}" "" "c.6380C>T p.(Ser2127Phe) Het c.6148G>C p.(Val2050Leu) Het" "" "Unknown" "" "" "0" "" "" "g.94001992C>G" "" "VUS" ""
"0000777451" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Méjécase 2020:32783370}" "" "c.5882G>A p.(Gly1961Glu) Het" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000777452" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Méjécase 2020:32783370}" "" "c.1622T>C p.(Leu541Pro) Het c.3113C>T p.(Ala1038Val) Het" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000777453" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Méjécase 2020:32783370}" "" "c.1622T>C p.(Leu541Pro) Het c.3113C>T p.(Ala1038Val) Het" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000777454" "0" "70" "1" "94520684" "94520684" "subst" "0" "01695" "ABCA4_001069" "g.94520684A>G" "" "{PMID:Méjécase 2020:32783370}" "" "c.2570T>C p.(Leu857Pro) Het" "" "Unknown" "" "" "0" "" "" "g.94055128A>G" "" "likely pathogenic (recessive)" ""
"0000777455" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Méjécase 2020:32783370}" "" "c.5882G>A p.(Gly1961Glu) Het c.5512C>G p.(His1838Asp) Het" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000777456" "0" "70" "1" "94476890" "94476890" "subst" "4.06227E-6" "01695" "ABCA4_000434" "g.94476890G>C" "" "{PMID:Méjécase 2020:32783370}" "" "c.5882G>A p.(Gly1961Glu) Het c.5512C>G p.(His1838Asp) Het" "" "Unknown" "" "" "0" "" "" "g.94011334G>C" "" "likely pathogenic (recessive)" ""
"0000777457" "3" "70" "1" "94458795" "94458795" "subst" "0" "01695" "ABCA4_001556" "g.94458795A>T" "" "{PMID:Méjécase 2020:32783370}" "" "c.6820T>A p.(*2274Argext*34) Hom" "" "Unknown" "" "" "0" "" "" "g.93993239A>T" "" "likely pathogenic (recessive)" ""
"0000777458" "3" "70" "1" "94528818" "94528818" "subst" "0.00205975" "01695" "ABCA4_001239" "g.94528818C>T" "" "{PMID:Méjécase 2020:32783370}" "" "c.1610G>A p.(Arg537His) Hom" "" "Unknown" "" "" "0" "" "" "g.94063262C>T" "" "likely pathogenic (recessive)" ""
"0000777459" "3" "70" "1" "94458795" "94458795" "subst" "0" "01695" "ABCA4_001556" "g.94458795A>T" "" "{PMID:Méjécase 2020:32783370}" "" "c.6820T>A p.(*2274Argext*34) Hom" "" "Unknown" "" "" "0" "" "" "g.93993239A>T" "" "likely pathogenic (recessive)" ""
"0000777460" "3" "70" "1" "94520684" "94520684" "subst" "0" "01695" "ABCA4_001069" "g.94520684A>G" "" "{PMID:Méjécase 2020:32783370}" "" "c.2570T>C p.(Leu857Pro) Hom" "" "Unknown" "" "" "0" "" "" "g.94055128A>G" "" "likely pathogenic (recessive)" ""
"0000777461" "3" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Méjécase 2020:32783370}" "" "c.5882G>A p.(Gly1961Glu) Hom" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000777462" "3" "70" "1" "94520684" "94520684" "subst" "0" "01695" "ABCA4_001069" "g.94520684A>G" "" "{PMID:Méjécase 2020:32783370}" "" "c.2570T>C p.(Leu857Pro) Hom" "" "Unknown" "" "" "0" "" "" "g.94055128A>G" "" "likely pathogenic (recessive)" ""
"0000777463" "0" "50" "1" "94496008" "94496008" "subst" "2.03056E-5" "01695" "ABCA4_000148" "g.94496008C>T" "" "{PMID:Müller 2020:32751377}{PMID:Gliem 2020:32646556}" "" "c.4328G>A / p.(Arg1443His)" "" "Unknown" "" "" "0" "" "" "g.94030452C>T" "" "VUS" ""
"0000777464" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Coco-Martin 2020:32660024}" "" "p.Leu2027Phe/p.Gly1977Ser" "" "Unknown" "" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic (recessive)" ""
"0000777465" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Khan 2020:32653833}" "" "c.5714+5G>A p.[=,E1863Lfs*33]" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000777466" "0" "70" "1" "94577003" "94577003" "subst" "0" "01695" "ABCA4_002221" "g.94577003T>C" "" "{PMID:Khan 2020:32653833}" "" "c.293A>G p.(N98S)" "" "Unknown" "yes" "" "0" "" "" "g.94111447T>C" "" "likely pathogenic (recessive)" ""
"0000777467" "0" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "" "{PMID:Khan 2020:32653833}" "" "c.4469G>A p.(C1490Y)" "" "Unknown" "yes" "" "0" "" "" "g.94029515C>T" "" "likely pathogenic (recessive)" ""
"0000777468" "0" "90" "1" "94526091" "94526091" "subst" "0" "01695" "ABCA4_002052" "g.94526091A>C" "" "{PMID:Khan 2020:32653833}" "" "c.2160+2T>G p.(?)" "" "Unknown" "" "" "0" "" "" "g.94060535A>C" "" "pathogenic (recessive)" ""
"0000777469" "0" "70" "1" "94526190" "94526190" "subst" "0" "01695" "ABCA4_002058" "g.94526190T>A" "" "{PMID:Khan 2020:32653833}" "" "c.2063A>T p.(N688I)" "" "Unknown" "" "" "0" "" "" "g.94060634T>A" "" "likely pathogenic (recessive)" ""
"0000777470" "0" "90" "1" "94520690" "94520690" "subst" "2.03102E-5" "01695" "ABCA4_000149" "g.94520690C>T" "" "{PMID:Khan 2020:32653833}" "" "c.2564G>A p.(W855*)" "" "Unknown" "" "" "0" "" "" "g.94055134C>T" "" "pathogenic (recessive)" ""
"0000777471" "1" "70" "1" "94496589" "94496589" "subst" "0" "01695" "ABCA4_000568" "g.94496589G>A" "" "{PMID:Khan 2020:32653833}" "" "c.[4216C>T;6148G>C] p.[(H1406Y);(V2050L)]" "" "Unknown" "yes" "" "0" "" "" "g.94031033G>A" "" "likely pathogenic (recessive)" ""
"0000777472" "1" "50" "1" "94467548" "94467548" "subst" "0.00295661" "01695" "ABCA4_000788" "g.94467548C>G" "" "{PMID:Khan 2020:32653833}" "" "c.[4216C>T;6148G>C] p.[(H1406Y);(V2050L)]" "" "Unknown" "yes" "" "0" "" "" "g.94001992C>G" "" "VUS" ""
"0000777473" "0" "70" "1" "94495072" "94495072" "subst" "0" "01695" "ABCA4_001422" "g.94495072A>G" "" "{PMID:Khan 2020:32653833}" "" "c.4468T>C p.(C1490R)" "" "Unknown" "yes" "" "0" "" "" "g.94029516A>G" "" "likely pathogenic (recessive)" ""
"0000777474" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Khan 2020:32653833}" "" "c.4139C>T p.(P1380L)" "" "Unknown" "yes" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000777475" "0" "70" "1" "94506923" "94506923" "subst" "2.43657E-5" "01695" "ABCA4_000012" "g.94506923C>T" "" "{PMID:Khan 2020:32653833}" "" "c.3364G>A p.(G1122K)" "" "Unknown" "yes" "" "0" "" "" "g.94041367C>T" "" "likely pathogenic (recessive)" ""
"0000777476" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Khan 2020:32653833}" "" "c.4139C>T p.(P1380L)" "" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000777477" "0" "90" "1" "94522300" "94522300" "del" "0" "01695" "ABCA4_000744" "g.94522300del" "" "{PMID:Khan 2020:32653833}" "" "c.2239del p.(L747Cfs*40)" "" "Unknown" "yes" "" "0" "" "" "g.94056744del" "" "pathogenic (recessive)" ""
"0000777478" "0" "70" "1" "94496017" "94496017" "subst" "4.06075E-6" "01695" "ABCA4_000130" "g.94496017A>G" "" "{PMID:Khan 2020:32653833}" "" "c.4319T>C p.(F1440S)" "" "Unknown" "yes" "" "0" "" "" "g.94030461A>G" "" "likely pathogenic (recessive)" ""
"0000777479" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Khan 2020:32653833}" "" "c.1804C>T p.(R602W)" "" "Unknown" "yes" "" "0" "" "" "g.94062710G>A" "" "pathogenic (recessive)" ""
"0000777480" "1" "70" "1" "94528713" "94528713" "subst" "4.87381E-5" "01695" "ABCA4_000072" "g.94528713C>T" "" "{PMID:Khan 2020:32653833}" "" "c.[1715G>A;2588G>C] p.[(R572Q;G863A,G863del]" "" "Unknown" "yes" "" "0" "" "" "g.94063157C>T" "" "likely pathogenic (recessive)" ""
"0000777481" "1" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Khan 2020:32653833}" "" "c.[1715G>A;2588G>C] p.[(R572Q;G863A,G863del]" "" "Unknown" "yes" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000777482" "0" "90" "1" "94506959" "94506959" "subst" "8.12321E-6" "01695" "ABCA4_001078" "g.94506959C>T" "" "{PMID:Khan 2020:32653833}" "" "c.3329-1G>A p.(?)" "" "Unknown" "yes" "" "0" "" "" "g.94041403C>T" "" "pathogenic (recessive)" ""
"0000777483" "0" "70" "1" "94577135" "94577135" "subst" "2.43718E-5" "01695" "ABCA4_000240" "g.94577135C>T" "" "{PMID:Khan 2020:32653833}" "" "c.161G>A p.[C54Sfs*14,C54Y]" "" "Unknown" "" "" "0" "" "" "g.94111579C>T" "" "likely pathogenic (recessive)" ""
"0000777484" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Khan 2020:32653833}" "" "c.6079C>T p.(L2027F)" "" "Unknown" "" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic (recessive)" ""
"0000777485" "0" "70" "1" "94484001" "94484001" "subst" "0" "01695" "ABCA4_000016" "g.94484001C>T" "" "{PMID:Khan 2020:32653833}" "" "c.5196+1137G>A p.[=,M1733Efs*78]" "" "Unknown" "" "" "0" "" "" "g.94018445C>T" "" "likely pathogenic (recessive)" ""
"0000777486" "1" "50" "1" "94467548" "94467548" "subst" "0.00295661" "01695" "ABCA4_000788" "g.94467548C>G" "" "{PMID:Khan 2020:32653833}" "" "c.[4126C>T; 6148G>C]" "" "Unknown" "" "" "0" "" "" "g.94001992C>G" "" "VUS" ""
"0000777487" "0" "70" "1" "94484001" "94484001" "subst" "0" "01695" "ABCA4_000016" "g.94484001C>T" "" "{PMID:Khan 2020:32653833}" "" "c.5196+1137G>A p.[=,M1733Efs*78]" "" "Unknown" "" "" "0" "" "" "g.94018445C>T" "" "likely pathogenic (recessive)" ""
"0000777488" "0" "70" "1" "94546780" "94546780" "subst" "0" "01695" "ABCA4_001271" "g.94546780C>G" "" "{PMID:Khan 2020:32653833}" "" "c.859-506G>C p.[F287Tfs*32,=]" "" "Unknown" "yes" "" "0" "" "" "g.94081224C>G" "" "likely pathogenic (recessive)" ""
"0000777489" "0" "70" "1" "94546780" "94546780" "subst" "0" "01695" "ABCA4_001271" "g.94546780C>G" "" "{PMID:Khan 2020:32653833}" "" "c.859-506G>C p.[F287Tfs*32,=]" "" "Unknown" "yes" "" "0" "" "" "g.94081224C>G" "" "likely pathogenic (recessive)" ""
"0000777490" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Gliem 2020:32646556}" "" "het c.3113C>T p.Ala1038Val" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000777491" "0" "70" "1" "94528132" "94528310" "del" "0" "01695" "ABCA4_000193" "g.(94526316_94528132)_(94528310_94528667)del" "" "{PMID:Gliem 2020:32646556}" "" "del ex13" "" "Unknown" "" "" "0" "" "" "g.(94060760_94062576)_(94062754_94063111)del" "" "likely pathogenic (recessive)" ""
"0000777492" "0" "10" "1" "94564483" "94564483" "subst" "0.0409724" "01695" "ABCA4_000009" "g.94564483C>T" "" "{PMID:Gliem 2020:32646556}" "" "het c.635G>A p.Arg212His" "" "Unknown" "" "" "0" "" "" "g.94098927C>T" "" "benign" ""
"0000777493" "0" "10" "1" "94544234" "94544234" "subst" "0.255245" "01695" "ABCA4_000322" "g.94544234T>C" "" "{PMID:Gliem 2020:32646556}" "" "het c.1268A>G p.His423Arg" "" "Unknown" "" "" "0" "" "" "g.94078678T>C" "" "benign" ""
"0000777494" "0" "10" "1" "94564483" "94564483" "subst" "0.0409724" "01695" "ABCA4_000009" "g.94564483C>T" "" "{PMID:Gliem 2020:32646556}" "" "het c.635G>A p.Arg212His" "" "Unknown" "" "" "0" "" "" "g.94098927C>T" "" "benign" ""
"0000777495" "0" "10" "1" "94544234" "94544234" "subst" "0.255245" "01695" "ABCA4_000322" "g.94544234T>C" "" "{PMID:Gliem 2020:32646556}" "" "het c.1268A>G p.His423Arg" "" "Unknown" "" "" "0" "" "" "g.94078678T>C" "" "benign" ""
"0000777496" "0" "90" "1" "94480098" "94480098" "subst" "0" "01695" "ABCA4_000437" "g.94480098C>T" "" "{PMID:Gliem 2020:32646556}" "" "het c.5460+1G>A splice_site" "" "Unknown" "" "" "0" "" "" "g.94014542C>T" "" "pathogenic (recessive)" ""
"0000777497" "0" "70" "1" "94480178" "94480178" "subst" "2.43692E-5" "01695" "ABCA4_000005" "g.94480178G>T" "" "{PMID:Gliem 2020:32646556}" "" "het c.5381C>A p.Ala1794Asp" "" "Unknown" "" "" "0" "" "" "g.94014622G>T" "" "likely pathogenic (recessive)" ""
"0000777498" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Gliem 2020:32646556}" "" "het c.1622T>C p.Leu541Pro" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000777499" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Gliem 2020:32646556}" "" "het c.3113C>T p.Ala1038Val" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000777500" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Gliem 2020:32646556}" "" "het c.5882G>A p.Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000777501" "0" "70" "1" "94564424" "94564424" "subst" "5.6868E-5" "01695" "ABCA4_001440" "g.94564424G>A" "" "{PMID:Gliem 2020:32646556}" "" "het c.694C>T p.Leu232Pe" "" "Unknown" "" "" "0" "" "" "g.94098868G>A" "" "likely pathogenic (recessive)" ""
"0000777502" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Gliem 2020:32646556}" "" "het c.5882G>A p.Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000777503" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Gliem 2020:32646556}" "" "het c.5461-10T>C c.5603A>T splice_site p.Asn1868Ile" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000777504" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Gliem 2020:32646556}" "" "het c.5461-10T>C c.5603A>T splice_site p.Asn1868Ile" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000777505" "0" "70" "1" "94508402" "94508402" "subst" "0" "01695" "ABCA4_001427" "g.94508402C>A" "" "{PMID:Gliem 2020:32646556}" "" "het c.3243G>T p.Lys1081Asn" "" "Unknown" "" "" "0" "" "" "g.94042846C>A" "" "likely pathogenic (recessive)" ""
"0000777506" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Gliem 2020:32646556}" "" "het c.5882G>A p.Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000777507" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Gliem 2020:32646556}" "" "het c.5461-10T>C p.Gln412Tyr" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000777508" "0" "90" "1" "94473278" "94473278" "del" "3.25908E-5" "01695" "ABCA4_000392" "g.94473278del" "" "{PMID:Gliem 2020:32646556}" "" "het c.5917del p.Val1973*" "" "Unknown" "" "" "0" "" "" "g.94007722del" "" "pathogenic (recessive)" ""
"0000777509" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Gliem 2020:32646556}" "" "het c.1622T>C p.Leu541Pro" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000777510" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Gliem 2020:32646556}" "" "het c.3113C>T p.Ala1038Val" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000777511" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Gliem 2020:32646556}" "" "het c.3113C>T p.Ala1038Val" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000777512" "2" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Gliem 2020:32646556}" "" "het c.2588G>C c.5603A>T p.Gly863Ala p.Asn1868Ile" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000777513" "2" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Gliem 2020:32646556}" "" "het c.2588G>C c.5603A>T p.Gly863Ala p.Asn1868Ile" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000777514" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Gliem 2020:32646556}" "" "het c.1622T>C p.Leu541Pro" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000777515" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Gliem 2020:32646556}" "" "het c.3113C>T p.Ala1038Val" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000777516" "0" "70" "1" "94476853" "94476853" "subst" "4.06243E-6" "01695" "ABCA4_000429" "g.94476853A>G" "" "{PMID:Gliem 2020:32646556}" "" "het c.5549T>C p.Leu1850Pro" "" "Unknown" "" "" "0" "" "" "g.94011297A>G" "" "likely pathogenic (recessive)" ""
"0000777517" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Gliem 2020:32646556}" "" "het c.5461-10T>C splice_site" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000777518" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Gliem 2020:32646556}" "" "het c.5603A>T p.Asn1868Ile" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000777519" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Gliem 2020:32646556}" "" "het c.5882G>A p.Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000777520" "0" "90" "1" "94473278" "94473278" "del" "3.25908E-5" "01695" "ABCA4_000392" "g.94473278del" "" "{PMID:Gliem 2020:32646556}" "" "het c.5917del p.Val1973*" "" "Unknown" "" "" "0" "" "" "g.94007722del" "" "pathogenic (recessive)" ""
"0000777521" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Gliem 2020:32646556}" "" "het c.5603A>T p.Asn1868Ile" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000777522" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Gliem 2020:32646556}" "" "het c.5882G>A p.Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000777523" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Gliem 2020:32646556}" "" "het c.1622T>C p.Leu541Pro" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000777524" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Gliem 2020:32646556}" "" "het c.3113C>T p.Ala1038Val" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000777525" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Gliem 2020:32646556}" "" "het c.5714+5G>A splice_site" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000777526" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Gliem 2020:32646556}" "" "het c.5882G>A p.Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000777527" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Gliem 2020:32646556}" "" "het c.2588G>C p.Gly863Ala" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000777528" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Gliem 2020:32646556}" "" "het c.5603A>T p.Asn1868Ile" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000777529" "0" "70" "1" "94463399" "94463413" "del" "0" "01695" "ABCA4_000851" "g.94463399_94463413del" "" "{PMID:Gliem 2020:32646556}" "" "het c.6729+19del13" "" "Unknown" "" "" "0" "" "" "g.93997843_93997857del" "" "likely pathogenic (recessive)" ""
"0000777530" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Gliem 2020:32646556}" "" "het c.3386G>T p.Arg1129Leu" "" "Unknown" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000777531" "0" "90" "1" "94586601" "94586601" "subst" "8.12156E-6" "01695" "ABCA4_000264" "g.94586601T>C" "" "{PMID:Gliem 2020:32646556}" "" "het c.1A>G p.Met1Val" "" "Unknown" "" "" "0" "" "" "g.94121045T>C" "" "pathogenic (recessive)" ""
"0000777532" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Gliem 2020:32646556}" "" "het c.5882G>A p.Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000777533" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Gliem 2020:32646556}" "" "het c.5882G>A p.Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000777534" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Gliem 2020:32646556}" "" "het c.3113C>T p.Ala1038Val" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000777535" "0" "70" "1" "94528179" "94528179" "subst" "0" "01695" "ABCA4_001433" "g.94528179C>T" "" "{PMID:Gliem 2020:32646556}" "" "het c.1891G>A p.Gly631Arg" "" "Unknown" "" "" "0" "" "" "g.94062623C>T" "" "likely pathogenic (recessive)" ""
"0000777536" "0" "90" "1" "94466452" "94466452" "subst" "0" "01695" "ABCA4_000823" "g.94466452A>C" "" "{PMID:Gliem 2020:32646556}" "" "het c.6419T>G p.Leu2140Arg" "" "Unknown" "" "" "0" "" "" "g.94000896A>C" "" "pathogenic (recessive)" ""
"0000777537" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Gliem 2020:32646556}" "" "het c.3113C>T p.Ala1038Val" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000777538" "2" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Gliem 2020:32646556}" "" "het c.2588G>C c.5603A>T p.Gly863Ala p.Asn1868Ile" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000777539" "2" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Gliem 2020:32646556}" "" "het c.2588G>C c.5603A>T p.Gly863Ala p.Asn1868Ile" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000777540" "0" "70" "1" "94495078" "94495078" "subst" "8.37044E-6" "01695" "ABCA4_000042" "g.94495078A>G" "" "{PMID:Gliem 2020:32646556}" "" "het c.4462T>C p.Cys1488Arg" "" "Unknown" "" "" "0" "" "" "g.94029522A>G" "" "likely pathogenic (recessive)" ""
"0000777541" "0" "70" "1" "94543277" "94543277" "subst" "0" "01695" "ABCA4_001042" "g.94543277C>G" "" "{PMID:Gliem 2020:32646556}" "" "het c.1523G>C p.Arg508Pro" "" "Unknown" "" "" "0" "" "" "g.94077721C>G" "" "likely pathogenic (recessive)" ""
"0000777542" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Gliem 2020:32646556}" "" "het c.5603A>T p.Asn1868Ile" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000777543" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Gliem 2020:32646556}" "" "het c.5882G>A p.Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000777544" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Gliem 2020:32646556}" "" "het c.5603A>T p.Asn1868Ile" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000777545" "0" "90" "1" "94508384" "94508384" "subst" "0" "01695" "ABCA4_000641" "g.94508384T>G" "" "{PMID:Gliem 2020:32646556}" "" "het c.3261A>C p.Glu1087Asp" "" "Unknown" "" "" "0" "" "" "g.94042828T>G" "" "pathogenic (recessive)" ""
"0000777546" "0" "90" "1" "94473278" "94473278" "del" "3.25908E-5" "01695" "ABCA4_000392" "g.94473278del" "" "{PMID:Gliem 2020:32646556}" "" "het c.5917del p.Val1973*" "" "Unknown" "" "" "0" "" "" "g.94007722del" "" "pathogenic (recessive)" ""
"0000777547" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Gliem 2020:32646556}" "" "het c.5882G>A p.Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000777548" "0" "70" "1" "94495077" "94495077" "subst" "0" "01695" "ABCA4_000184" "g.94495077C>T" "" "{PMID:Gliem 2020:32646556}" "" "het c.4463G>A p.Cys1488Tyr" "" "Unknown" "" "" "0" "" "" "g.94029521C>T" "" "likely pathogenic (recessive)" ""
"0000777549" "0" "50" "1" "94467548" "94467548" "subst" "0.00295661" "01695" "ABCA4_000788" "g.94467548C>G" "" "{PMID:Gliem 2020:32646556}" "" "het c.6148G>C p.Val2050Leu" "" "Unknown" "" "" "0" "" "" "g.94001992C>G" "" "VUS" ""
"0000777550" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Gliem 2020:32646556}" "" "het c.5714+5G>A splice_site" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000777551" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Gliem 2020:32646556}" "" "het c.5603A>T p.Asn1868Ile" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000777552" "0" "70" "1" "94466422" "94466422" "subst" "2.43651E-5" "01695" "ABCA4_000817" "g.94466422C>T" "" "{PMID:Gliem 2020:32646556}" "" "het c.6449G>A p.Cys2150Tyr" "" "Unknown" "" "" "0" "" "" "g.94000866C>T" "" "likely pathogenic (recessive)" ""
"0000777553" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Gliem 2020:32646556}" "" "het c.5882G>A p.Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000777554" "0" "50" "1" "94487404" "94487404" "subst" "0.00244055" "01695" "ABCA4_000497" "g.94487404C>T" "" "{PMID:Gliem 2020:32646556}" "" "het c.4771G>A p.Gly1591Arg" "" "Unknown" "" "" "0" "" "" "g.94021848C>T" "" "VUS" ""
"0000777555" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Gliem 2020:32646556}" "" "het c.1622T>C c.3113C>T p.Leu541Pro p.Ala1038Val" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000777556" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Gliem 2020:32646556}" "" "het c.1622T>C c.3113C>T p.Leu541Pro p.Ala1038Val" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000777557" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Gliem 2020:32646556}" "" "het c.1622T>C p.Leu541Pro" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000777558" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Gliem 2020:32646556}" "" "het c.3113C>T p.Ala1038Val" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000777559" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Gliem 2020:32646556}" "" "het c.5882G>A p.Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000777560" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Gliem 2020:32646556}" "" "het c.3113C>T p.Ala1038Val" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000777561" "2" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Gliem 2020:32646556}" "" "het c.2588G>C c.5603A>T p.Gly863Ala p.Asn1868Ile" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000777562" "2" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Gliem 2020:32646556}" "" "het c.2588G>C c.5603A>T p.Gly863Ala p.Asn1868Ile" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000777563" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Gliem 2020:32646556}" "" "het c.2588G>C p.Gly863Ala" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000777564" "0" "90" "1" "94496571" "94496571" "subst" "4.06174E-6" "01695" "ABCA4_000111" "g.94496571G>A" "" "{PMID:Gliem 2020:32646556}" "" "het c.4234C>T p.Gln1412*" "" "Unknown" "" "" "0" "" "" "g.94031015G>A" "" "pathogenic (recessive)" ""
"0000777565" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Gliem 2020:32646556}" "" "het c.5882G>A p.Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000777566" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Gliem 2020:32646556}" "" "het c.3113C>T p.Ala1038Val" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000777567" "0" "70" "1" "94471055" "94471055" "subst" "0.00035346" "01695" "ABCA4_000029" "g.94471055C>T" "" "{PMID:Gliem 2020:32646556}" "" "het c.6089G>A p.Arg2030Gln" "" "Unknown" "" "" "0" "" "" "g.94005499C>T" "" "likely pathogenic (recessive)" ""
"0000777568" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Gliem 2020:32646556}" "" "het c.5603A>T p.Asn1868Ile" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000777569" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Gliem 2020:32646556}" "" "het c.5882G>A p.Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000777570" "0" "90" "1" "94528844" "94528844" "subst" "0" "01695" "ABCA4_001435" "g.94528844G>T" "" "{PMID:Gliem 2020:32646556}" "" "het c.1584C>A p.Tyr528*" "" "Unknown" "" "" "0" "" "" "g.94063288G>T" "" "pathogenic (recessive)" ""
"0000777571" "1" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Gliem 2020:32646556}" "" "het c.5603A>T p.Asn1868Ile" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000777572" "2" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Gliem 2020:32646556}" "" "het c.1622T>C c.3113C>T p.Leu541Pro p.Ala1038Val" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000777573" "2" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Gliem 2020:32646556}" "" "het c.1622T>C c.3113C>T p.Leu541Pro p.Ala1038Val" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000777574" "0" "90" "1" "94528132" "94528132" "subst" "4.06835E-6" "01695" "ABCA4_000773" "g.94528132C>T" "" "{PMID:Gliem 2020:32646556}" "" "het c.1937+1G>A splice_site" "" "Unknown" "" "" "0" "" "" "g.94062576C>T" "" "pathogenic (recessive)" ""
"0000777575" "0" "70" "1" "94546124" "94546124" "subst" "0" "01695" "ABCA4_000342" "g.94546124A>G" "" "{PMID:Gliem 2020:32646556}" "" "het c.1009T>C p.Phe337Leu" "" "Unknown" "" "" "0" "" "" "g.94080568A>G" "" "likely pathogenic (recessive)" ""
"0000777576" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Gliem 2020:32646556}" "" "het c.3113C>T p.Ala1038Val" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000777577" "0" "70" "1" "94471055" "94471055" "subst" "0.00035346" "01695" "ABCA4_000029" "g.94471055C>T" "" "{PMID:Gliem 2020:32646556}" "" "het c.6089G>A p.Arg2030Gln" "" "Unknown" "" "" "0" "" "" "g.94005499C>T" "" "likely pathogenic (recessive)" ""
"0000777578" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Gliem 2020:32646556}" "" "het c.5882G>A p.Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000777579" "0" "70" "1" "94480230" "94480230" "subst" "6.09177E-5" "01695" "ABCA4_001053" "g.94480230T>A" "" "{PMID:Gliem 2020:32646556}" "" "het c.5329A>T p.Met1777Leu" "" "Unknown" "" "" "0" "" "" "g.94014674T>A" "" "likely pathogenic (recessive)" ""
"0000777580" "0" "90" "1" "94586557" "94586557" "subst" "4.06134E-6" "01695" "ABCA4_000259" "g.94586557C>T" "" "{PMID:Gliem 2020:32646556}" "" "het c.45G>A p.Trp15*" "" "Unknown" "" "" "0" "" "" "g.94121001C>T" "" "pathogenic (recessive)" ""
"0000777581" "0" "50" "1" "94487490" "94487490" "subst" "0.00122268" "01695" "ABCA4_000506" "g.94487490A>G" "" "{PMID:Gliem 2020:32646556}" "" "het c.4685T>C p.Ile1562Thr" "" "Unknown" "" "" "0" "" "" "g.94021934A>G" "" "VUS" ""
"0000777582" "0" "90" "1" "94495082" "94495082" "del" "0" "01695" "ABCA4_001423" "g.94495082del" "" "{PMID:Gliem 2020:32646556}" "" "het c.4458del p.Ser1487Profs*39" "" "Unknown" "" "" "0" "" "" "g.94029526del" "" "pathogenic (recessive)" ""
"0000777583" "0" "70" "1" "94487251" "94487251" "subst" "2.85679E-5" "01695" "ABCA4_000490" "g.94487251G>T" "" "{PMID:Gliem 2020:32646556}" "" "hom c.4793C>A p.Ala1598Asp" "" "Unknown" "" "" "0" "" "" "g.94021695G>T" "" "likely pathogenic (recessive)" ""
"0000777584" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Gliem 2020:32646556}" "" "het c.5882G>A p.Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000777585" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Gliem 2020:32646556}" "" "het c.5603A>T p.Asn1868Ile" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000777586" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Gliem 2020:32646556}" "" "het c.5603A>T p.Asn1868Ile" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000777587" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Gliem 2020:32646556}" "" "het c.5461-10T>C" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000777588" "0" "90" "1" "94496571" "94496571" "subst" "4.06174E-6" "01695" "ABCA4_000111" "g.94496571G>A" "" "{PMID:Gliem 2020:32646556}" "" "het c.4234C>T p.Gln1412*" "" "Unknown" "" "" "0" "" "" "g.94031015G>A" "" "pathogenic (recessive)" ""
"0000777589" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Gliem 2020:32646556}" "" "het c.1622T>C p.Leu541Pro" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000777590" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Gliem 2020:32646556}" "" "het c.3113C>T p.Ala1038Val" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000777591" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Gliem 2020:32646556}" "" "het c.5882G>A p.Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000777592" "0" "70" "1" "94463568" "94463603" "del" "0" "01695" "ABCA4_000805" "g.94463568_94463603del" "" "{PMID:Gliem 2020:32646556}" "" "het c.6545_6580del p.Leu2184_Phe2193del" "" "Unknown" "" "" "0" "" "" "g.93998012_93998047del" "" "likely pathogenic (recessive)" ""
"0000777593" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Gliem 2020:32646556}" "" "het c.5603A>T p.Asn1868Ile" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000777594" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Gliem 2020:32646556}" "" "het c.5461-10T>C splice_site" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000777595" "3" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Gliem 2020:32646556}" "" "hom c.5603A>T p.Asn1868Ile" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000777596" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Gliem 2020:32646556}" "" "het c.2588G>C p.Gly863Ala" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000777597" "3" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Gliem 2020:32646556}" "" "hom c.5603A>T p.Asn1868Ile" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000777598" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Gliem 2020:32646556}" "" "het c.5603A>T p.Asn1868Ile" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000777599" "0" "70" "1" "94466610" "94466610" "subst" "4.0623E-6" "01695" "ABCA4_001581" "g.94466610C>G" "" "{PMID:Gliem 2020:32646556}" "" "het c.6334G>C p.Val2112Leu" "" "Unknown" "" "" "0" "" "" "g.94001054C>G" "" "likely pathogenic (recessive)" ""
"0000777600" "0" "90" "1" "94528132" "94528874" "del" "0" "01695" "ABCA4_002353" "g.(94526316_94528132)_(94528874_94543245)del" "" "{PMID:Gliem 2020:32646556}" "" "het Deletion_of_exons_12-13 putative_loss_of_function" "" "Unknown" "" "" "0" "" "" "g.(94060760_94062576)_(94063318_94077689)del" "" "pathogenic (recessive)" ""
"0000777601" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Gliem 2020:32646556}" "" "het c.5882G>A p.Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000777602" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Gliem 2020:32646556}" "" "het c.5603A>T p.Asn1868Ile" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000777603" "0" "90" "1" "94485136" "94485136" "subst" "0" "01695" "ABCA4_000189" "g.94485136A>G" "" "{PMID:Gliem 2020:32646556}" "" "het c.5916+2T>C splice_site" "" "Unknown" "" "" "0" "" "" "g.94019580A>G" "" "pathogenic (recessive)" ""
"0000777604" "0" "90" "1" "94471026" "94471026" "subst" "1.21925E-5" "01695" "ABCA4_000791" "g.94471026G>A" "" "{PMID:Gliem 2020:32646556}" "" "het c.6118C>T p.Arg2040*" "" "Unknown" "" "" "0" "" "" "g.94005470G>A" "" "pathogenic (recessive)" ""
"0000777605" "0" "50" "1" "94476377" "94476377" "subst" "0.00160473" "01695" "ABCA4_000411" "g.94476377C>T" "" "{PMID:Gliem 2020:32646556}" "" "het c.5693G>A p.Arg1898His" "" "Unknown" "" "" "0" "" "" "g.94010821C>T" "" "VUS" ""
"0000777606" "0" "90" "1" "94471026" "94471026" "subst" "1.21925E-5" "01695" "ABCA4_000791" "g.94471026G>A" "" "{PMID:Gliem 2020:32646556}" "" "het c.6118C>T p.Arg2040*" "" "Unknown" "" "" "0" "" "" "g.94005470G>A" "" "pathogenic (recessive)" ""
"0000777607" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Gliem 2020:32646556}" "" "het c.5603A>T p.Asn1868Ile" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000777608" "0" "90" "1" "94528167" "94528167" "subst" "0" "01695" "ABCA4_000268" "g.94528167G>A" "" "{PMID:Gliem 2020:32646556}" "" "het c.1903C>T p.Gln635*" "" "Unknown" "" "" "0" "" "" "g.94062611G>A" "" "pathogenic (recessive)" ""
"0000777609" "0" "50" "1" "94528142" "94528142" "subst" "0.00153303" "01695" "ABCA4_000125" "g.94528142A>C" "" "{PMID:Gliem 2020:32646556}" "" "het c.1928T>G p.Val643Gly" "" "Unknown" "" "" "0" "" "" "g.94062586A>C" "" "VUS" ""
"0000777610" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Gliem 2020:32646556}" "" "het c.5603A>T p.Asn1868Ile" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000777611" "0" "70" "1" "94544142" "94544143" "ins" "0" "01695" "ABCA4_002126" "g.94544142_94544143insC" "" "{PMID:Gliem 2020:32646556}" "" "het c.1356+3_1356+4insG splice_site" "" "Unknown" "" "" "0" "" "" "g.94078586_94078587insC" "" "likely pathogenic (recessive)" ""
"0000777612" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Gliem 2020:32646556}" "" "het c.5882G>A p.Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000777613" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Gliem 2020:32646556}" "" "het c.5603A>T p.Asn1868Ile" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000777614" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Gliem 2020:32646556}" "" "het c.5603A>T p.Asn1868Ile" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000777615" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Gliem 2020:32646556}" "" "het c.5603A>T p.Asn1868Ile" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000777616" "0" "50" "1" "94487404" "94487404" "subst" "0.00244055" "01695" "ABCA4_000497" "g.94487404C>T" "" "{PMID:Gliem 2020:32646556}" "" "het c.4771G>A p.Gly1591Arg" "" "Unknown" "" "" "0" "" "" "g.94021848C>T" "" "VUS" ""
"0000777617" "0" "90" "1" "94496571" "94496571" "subst" "4.06174E-6" "01695" "ABCA4_000111" "g.94496571G>A" "" "{PMID:Gliem 2020:32646556}" "" "het c.4234C>T p.Gln1412*" "" "Unknown" "" "" "0" "" "" "g.94031015G>A" "" "pathogenic (recessive)" ""
"0000777618" "0" "70" "1" "94467467" "94467467" "subst" "4.06164E-6" "01695" "ABCA4_000780" "g.94467467G>A" "" "{PMID:Gliem 2020:32646556}" "" "het c.6229C>T p.Arg2077Trp" "" "Unknown" "" "" "0" "" "" "g.94001911G>A" "" "likely pathogenic (recessive)" ""
"0000777619" "0" "70" "1" "94528713" "94528713" "subst" "4.87381E-5" "01695" "ABCA4_000072" "g.94528713C>T" "" "{PMID:Gliem 2020:32646556}" "" "het c.1715G>A p.Arg572Gln" "" "Unknown" "" "" "0" "" "" "g.94063157C>T" "" "likely pathogenic (recessive)" ""
"0000777620" "0" "70" "1" "94528840" "94528840" "subst" "0" "01695" "ABCA4_002104" "g.94528840C>T" "" "{PMID:Gliem 2020:32646556}" "" "het c.1588G>A c.5603A>T p.Gly863Ala p.Asn1868Ile" "" "Unknown" "" "" "0" "" "" "g.94063284C>T" "" "likely pathogenic (recessive)" ""
"0000777621" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Gliem 2020:32646556}" "" "het c.1588G>A c.5603A>T p.Gly863Ala p.Asn1868Ile" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000777622" "21" "70" "1" "94471100" "94471113" "delins" "0" "01695" "ABCA4_001630" "g.94471100_94471113delinsAAATATTGGTTAAATACT" "" "{PMID:Huang 2020:32627976}" "" "V3: c.6031_6044delinsAGTATTTAACCAATATTT" "" "Unknown" "" "" "0" "" "" "g.94005544_94005557delinsAAATATTGGTTAAATACT" "" "likely pathogenic (recessive)" ""
"0000777623" "21" "70" "1" "94471100" "94471113" "delins" "0" "01695" "ABCA4_001630" "g.94471100_94471113delinsAAATATTGGTTAAATACT" "" "{PMID:Huang 2020:32627976}" "" "V3: c.6031_6044delinsAGTATTTAACCAATATTT" "" "Unknown" "" "" "0" "" "" "g.94005544_94005557delinsAAATATTGGTTAAATACT" "" "likely pathogenic (recessive)" ""
"0000777624" "21" "70" "1" "94471100" "94471113" "delins" "0" "01695" "ABCA4_001630" "g.94471100_94471113delinsAAATATTGGTTAAATACT" "" "{PMID:Huang 2020:32627976}" "" "V3: c.6031_6044delinsAGTATTTAACCAATATTT" "" "Unknown" "" "" "0" "" "" "g.94005544_94005557delinsAAATATTGGTTAAATACT" "" "likely pathogenic (recessive)" ""
"0000777625" "21" "90" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Hu 2020:32534057}" "" "c.2894A>G p.(Asn965Ser) Exon19 Het" "" "Germline" "yes" "" "0" "" "" "g.94046943T>C" "" "pathogenic (recessive)" ""
"0000777626" "21" "70" "1" "94463583" "94463583" "subst" "8.12183E-6" "01695" "ABCA4_000806" "g.94463583A>G" "" "{PMID:Hu 2020:32534057}" "" "c.6563 T>C p.(Phe2188Ser) Exon48 Het" "" "Germline" "yes" "" "0" "" "" "g.93998027A>G" "" "likely pathogenic (recessive)" ""
"0000777627" "21" "90" "1" "94510191" "94510191" "subst" "0" "01695" "ABCA4_001963" "g.94510191G>A" "" "{PMID:Hu 2020:32534057}" "" "c.3028C>T p.(Gln1010*) Exon20 Het" "" "Germline" "yes" "" "0" "" "" "g.94044635G>A" "" "pathogenic (recessive)" ""
"0000777628" "21" "70" "1" "94544885" "94544885" "subst" "0" "01695" "ABCA4_001361" "g.94544885A>G" "" "{PMID:Hu 2020:32534057}" "" "c.1232 T>C p.(Leu411Pro) Exon9 Het" "" "Germline" "yes" "" "0" "" "" "g.94079329A>G" "" "likely pathogenic (recessive)" ""
"0000777629" "21" "90" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Hu 2020:32534057}" "" "c.2894A>G p.(Asn965Ser) Exon19 Het" "" "Germline" "yes" "" "0" "" "" "g.94046943T>C" "" "pathogenic (recessive)" ""
"0000777630" "11" "70" "1" "94508322" "94508322" "subst" "1.62513E-5" "01695" "ABCA4_000128" "g.94508322C>T" "" "{PMID:Hu 2020:32534057}{PMID:Hu 2019:31543898}" "" "c.3323G>A p.(Arg1108His) Exon22 Het" "" "Germline" "yes" "" "0" "" "" "g.94042766C>T" "" "likely pathogenic (recessive)" ""
"0000777631" "11" "90" "1" "94508891" "94508891" "subst" "0" "01695" "ABCA4_001945" "g.94508891C>G" "" "{PMID:Hu 2020:32534057}" "" "c.3190 + 1G>C p.? Intron22 Het" "" "Germline" "yes" "" "0" "" "" "g.94043335C>G" "" "pathogenic (recessive)" ""
"0000777632" "11" "70" "1" "94508337" "94508337" "subst" "0" "01695" "ABCA4_001922" "g.94508337A>G" "" "{PMID:Hu 2020:32534057}" "" "c.3308 T>C p.(Leu1103Pro) Exon22 Het" "" "Germline" "yes" "" "0" "" "" "g.94042781A>G" "" "likely pathogenic (recessive)" ""
"0000777633" "2" "70" "1" "94496642" "94496642" "subst" "4.06398E-6" "01695" "ABCA4_000168" "g.94496642A>G" "" "{PMID:Green 2020:32467599}" "" "c.[5714+5G>A];[4163T>C]" "" "Germline" "yes" "" "0" "" "" "g.94031086A>G" "" "likely pathogenic (recessive)" ""
"0000777634" "2" "70" "1" "94496642" "94496642" "subst" "4.06398E-6" "01695" "ABCA4_000168" "g.94496642A>G" "" "{PMID:Green 2020:32467599}" "" "c.[5714+5G>A];[4163T>C]" "" "Germline" "yes" "" "0" "" "" "g.94031086A>G" "" "likely pathogenic (recessive)" ""
"0000777635" "0" "70" "1" "94496642" "94496642" "subst" "4.06398E-6" "01695" "ABCA4_000168" "g.94496642A>G" "" "{PMID:Green 2020:32467599}" "" "c.4577C>T(;)4163T>C" "" "Germline" "" "" "0" "" "" "g.94031086A>G" "" "likely pathogenic (recessive)" ""
"0000777636" "2" "90" "1" "94578623" "94578623" "del" "0" "01695" "ABCA4_001093" "g.94578623del" "" "{PMID:Green 2020:32467599}" "" "c.[5714+5G>A];[67-1delG]" "" "Germline" "yes" "" "0" "" "" "g.94113067del" "" "pathogenic (recessive)" ""
"0000777637" "2" "90" "1" "94578623" "94578623" "del" "0" "01695" "ABCA4_001093" "g.94578623del" "" "{PMID:Green 2020:32467599}" "" "c.[5714+5G>A];[67-1delG]" "" "Germline" "yes" "" "0" "" "" "g.94113067del" "" "pathogenic (recessive)" ""
"0000777638" "2" "90" "1" "94578623" "94578623" "del" "0" "01695" "ABCA4_001093" "g.94578623del" "" "{PMID:Green 2020:32467599}" "" "c.[5714+5G>A];[67-1delG]" "" "Germline" "yes" "" "0" "" "" "g.94113067del" "" "pathogenic (recessive)" ""
"0000777639" "0" "70" "1" "94471055" "94471055" "subst" "0.00035346" "01695" "ABCA4_000029" "g.94471055C>T" "" "{PMID:Green 2020:32467599}" "" "c.4469G>A(;)6089G>A(;)5603A>T" "" "Germline" "" "" "0" "" "" "g.94005499C>T" "" "likely pathogenic (recessive)" ""
"0000777640" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Green 2020:32467599}" "" "c.4469G>A(;)6089G>A(;)5603A>T" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000777641" "2" "70" "1" "94496642" "94496642" "subst" "4.06398E-6" "01695" "ABCA4_000168" "g.94496642A>G" "" "{PMID:Green 2020:32467599}" "" "c.[5714+5G>A];[4163T>C]" "" "Germline" "yes" "" "0" "" "" "g.94031086A>G" "" "likely pathogenic (recessive)" ""
"0000777642" "2" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Green 2020:32467599}" "" "c.[5714+5G>A];[3322C>T]" "" "Germline" "yes" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000777643" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Green 2020:32467599}" "" "c.4577C>T(;)5603A>T" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000777644" "2" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Green 2020:32467599}" "" "c.[5714+5G>A];[5461-10T>C;5603A>T]" "" "Germline" "yes" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000777645" "2" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Green 2020:32467599}" "" "c.[5714+5G>A];[5461-10T>C;5603A>T]" "" "Germline" "yes" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000777646" "1" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Green 2020:32467599}" "" "c.[5714+5G>A;2588G>C];[5714+5G>A]" "" "Germline" "yes" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000777647" "3" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Green 2020:32467599}" "" "c.[5714+5G>A;2588G>C];[5714+5G>A]" "" "Germline" "yes" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000777648" "1" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Green 2020:32467599}" "" "c.[5714+5G>A;2588G>C];[5461-10T>C;5603A>T]" "" "Germline" "yes" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000777649" "2" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Green 2020:32467599}" "" "c.[5714+5G>A;2588G>C];[5461-10T>C;5603A>T]" "" "Germline" "yes" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000777650" "2" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Green 2020:32467599}" "" "c.[5714+5G>A;2588G>C];[5461-10T>C;5603A>T]" "" "Germline" "yes" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000777651" "1" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Green 2020:32467599}" "" "c.[2588G>C;5603A>T];[6449G>A]" "" "Germline" "yes" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000777652" "2" "70" "1" "94466422" "94466422" "subst" "2.43651E-5" "01695" "ABCA4_000817" "g.94466422C>T" "" "{PMID:Green 2020:32467599}" "" "c.[2588G>C;5603A>T];[6449G>A]" "" "Germline" "yes" "" "0" "" "" "g.94000866C>T" "" "likely pathogenic (recessive)" ""
"0000777653" "1" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Green 2020:32467599}" "" "c.[2588G>C;5603A>T];[4537delC]" "" "Germline" "yes" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000777654" "2" "90" "1" "94495009" "94495009" "del" "0" "01695" "ABCA4_000534" "g.94495009del" "" "{PMID:Green 2020:32467599}" "" "c.[2588G>C;5603A>T];[4537delC]" "" "Germline" "yes" "" "0" "" "" "g.94029453del" "" "pathogenic (recessive)" ""
"0000777655" "2" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Green 2020:32467599}" "" "c.[2564G>A];[5461-10T>C;5603A>T]" "" "Germline" "yes" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000777656" "2" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Green 2020:32467599}" "" "c.[2564G>A];[5461-10T>C;5603A>T]" "" "Germline" "yes" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000777657" "3" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Green 2020:32467599}" "" "c.[5461-10T>C;5603A>T];[5461-10T>C;5603A>T]" "" "Germline" "yes" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000777658" "3" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Green 2020:32467599}" "" "c.[5461-10T>C;5603A>T];[5461-10T>C;5603A>T]" "" "Germline" "yes" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000777659" "2" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Green 2020:32467599}" "" "c.[5714+5G>A];[5461-10T>C;5603A>T]" "" "Germline" "yes" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000777660" "2" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Green 2020:32467599}" "" "c.[5714+5G>A];[5461-10T>C;5603A>T]" "" "Germline" "yes" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000777661" "3" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Green 2020:32467599}" "" "c.[5461-10T>C;5603A>T];[5461-10T>C;5603A>T]" "" "Germline" "yes" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000777662" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Green 2020:32467599}" "" "c.2564G>A(;)4139C>T" "" "Germline" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000777663" "0" "70" "1" "94508322" "94508322" "subst" "1.62513E-5" "01695" "ABCA4_000128" "g.94508322C>T" "" "{PMID:Green 2020:32467599}" "" "c.3322C>T(;)3323G>A" "" "Germline" "" "" "0" "" "" "g.94042766C>T" "" "likely pathogenic (recessive)" ""
"0000777664" "2" "90" "1" "94520690" "94520690" "subst" "2.03102E-5" "01695" "ABCA4_000149" "g.94520690C>T" "" "{PMID:Green 2020:32467599}" "" "c.[5714+5G>A];[2564G>A]" "" "Germline" "yes" "" "0" "" "" "g.94055134C>T" "" "pathogenic (recessive)" ""
"0000777665" "3" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Green 2020:32467599}" "" "c.[5461-10T>C;5603A>T];[5603A>T]" "" "Germline" "yes" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000777666" "3" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Green 2020:32467599}" "" "c.[5461-10T>C;5603A>T];[5603A>T]" "" "Germline" "yes" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000777667" "1" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Green 2020:32467599}" "" "c.[2564G>A;5603A>T]" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000777668" "1" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Green 2020:32467599}" "" "c.[2564G>A;5603A>T]" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000777669" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Green 2020:32467599}" "" "c.4139C>T(;)5714+5G>A" "" "Germline" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000777670" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Green 2020:32467599}" "" "c.4577C>T(;)5714+5G>A" "" "Germline" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000777671" "2" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Green 2020:32467599}" "" "c.[5714+5G>A];[3322C>T]" "" "Germline" "yes" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000777672" "0" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "" "{PMID:Green 2020:32467599}" "" "c.4163T>C(;)4469G>A" "" "Germline" "" "" "0" "" "" "g.94029515C>T" "" "likely pathogenic (recessive)" ""
"0000777673" "0" "90" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Green 2020:32467599}" "" "c.5714+5G>A(;)634C>T" "" "Germline" "" "" "0" "" "" "g.94098928G>A" "" "pathogenic (recessive)" ""
"0000777674" "2" "90" "1" "94497579" "94497583" "del" "0" "01695" "ABCA4_001861" "g.94497579_94497583del" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.3881_3885del p.(Arg1294Lysfs*126)" "" "Germline" "yes" "" "0" "" "" "g.94032023_94032027del" "" "pathogenic (recessive)" ""
"0000777675" "2" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.5714+5G>A p.[=,Glu1863Leufs*33]" "" "Germline" "yes" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000777676" "0" "70" "1" "94486959" "94486959" "subst" "0" "01695" "ABCA4_001285" "g.94486959A>G" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.4855T>C p.(Phe1619Leu)" "" "Germline" "" "" "0" "" "" "g.94021403A>G" "" "likely pathogenic (recessive)" ""
"0000777677" "0" "90" "1" "94520773" "94520773" "del" "0" "01695" "ABCA4_002025" "g.94520773del" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.2481del p.(Thr829Argfs*14)" "" "Germline" "" "" "0" "" "" "g.94055217del" "" "pathogenic (recessive)" ""
"0000777678" "2" "50" "1" "94480164" "94480164" "subst" "0" "01695" "ABCA4_000440" "g.94480164T>C" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.5395A>G p.(Asn1799Asp)" "" "Germline" "yes" "" "0" "" "" "g.94014608T>C" "" "VUS" ""
"0000777679" "2" "50" "1" "94481365" "94481365" "subst" "4.06636E-5" "01695" "ABCA4_000457" "g.94481365C>T" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.5242G>A p.(Gly1748Arg)" "" "Germline" "yes" "" "0" "" "" "g.94015809C>T" "" "VUS" ""
"0000777680" "2" "70" "1" "94487503" "94487503" "subst" "0" "01695" "ABCA4_001769" "g.94487503C>T" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.4672G>A p.(Gly1558Arg)" "" "Germline" "yes" "" "0" "" "" "g.94021947C>T" "" "likely pathogenic (recessive)" ""
"0000777681" "2" "70" "1" "94473266" "94473266" "subst" "8.14677E-6" "01695" "ABCA4_000389" "g.94473266C>T" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.5929G>A p.(Gly1977Ser)" "" "Germline" "yes" "" "0" "" "" "g.94007710C>T" "" "likely pathogenic (recessive)" ""
"0000777682" "2" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.3386G>T p.(Arg1129Leu)" "" "Germline" "yes" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000777683" "2" "90" "1" "94484082" "94484082" "subst" "0" "01695" "ABCA4_000028" "g.94484082T>C" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.5196+1056A>G p.(Met1733Valfs*2)" "" "Germline" "yes" "" "0" "" "" "g.94018526T>C" "" "pathogenic (recessive)" ""
"0000777684" "0" "50" "1" "94480164" "94480164" "subst" "0" "01695" "ABCA4_000440" "g.94480164T>C" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.5395A>G p.(Asn1799Asp)" "" "Germline" "" "" "0" "" "" "g.94014608T>C" "" "VUS" ""
"0000777685" "0" "70" "1" "94473281" "94473281" "subst" "0" "01695" "ABCA4_000393" "g.94473281C>T" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.5914G>A p.(Gly1972Arg)" "" "Germline" "" "" "0" "" "" "g.94007725C>T" "" "likely pathogenic (recessive)" ""
"0000777686" "0" "70" "1" "94474323" "94474323" "subst" "2.03034E-5" "01695" "ABCA4_000156" "g.94474323A>G" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.5819T>C p.(Leu1940Pro)" "" "Germline" "" "" "0" "" "" "g.94008767A>G" "" "likely pathogenic (recessive)" ""
"0000777687" "0" "70" "1" "94484001" "94484001" "subst" "0" "01695" "ABCA4_000016" "g.94484001C>T" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.5196+1137G>A p.[Met1733Glufs*78,=]" "" "Germline" "" "" "0" "" "" "g.94018445C>T" "" "likely pathogenic (recessive)" ""
"0000777688" "2" "70" "1" "94528795" "94528795" "subst" "0" "01695" "ABCA4_002101" "g.94528795T>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.1633A>T p.(Asn545Tyr)" "" "Germline" "yes" "" "0" "" "" "g.94063239T>A" "" "likely pathogenic (recessive)" ""
"0000777689" "0" "70" "1" "94480182" "94480182" "subst" "0" "01695" "ABCA4_001452" "g.94480182C>T" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.5377G>A p.(Val1793Met)" "" "Germline" "" "" "0" "" "" "g.94014626C>T" "" "likely pathogenic (recessive)" ""
"0000777690" "0" "70" "1" "94467517" "94467517" "subst" "0" "01695" "ABCA4_000786" "g.94467517A>C" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.6179T>G p.(Leu2060Arg)" "" "Germline" "" "" "0" "" "" "g.94001961A>C" "" "likely pathogenic (recessive)" ""
"0000777691" "0" "70" "1" "94506923" "94506923" "subst" "2.43657E-5" "01695" "ABCA4_000012" "g.94506923C>T" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.3364G>A p.(Glu1122Lys)" "" "Germline" "" "" "0" "" "" "g.94041367C>T" "" "likely pathogenic (recessive)" ""
"0000777692" "0" "50" "1" "94526230" "94526230" "subst" "7.32136E-5" "01695" "ABCA4_000760" "g.94526230C>T" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.2023G>A p.(Val675Ile)" "" "Germline" "" "" "0" "" "" "g.94060674C>T" "" "VUS" ""
"0000777693" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.3386G>T p.(Arg1129Leu)" "" "Germline" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000777694" "0" "70" "1" "94543248" "94543445" "del" "0" "01695" "ABCA4_002113" "g.94543248_94543445del" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.1357_1554del p.(Asp453_Glu518del)" "" "Germline" "" "" "0" "" "" "g.94077692_94077889del" "" "likely pathogenic (recessive)" ""
"0000777695" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.[1622T>C;3113C>T] p.[Leu541Pro; Ala1038Val]" "" "Germline" "yes" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000777696" "2" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.3386G>T p.(Arg1129Leu)" "" "Germline" "yes" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000777697" "2" "70" "1" "94486896" "94486896" "subst" "3.65562E-5" "01695" "ABCA4_000085" "g.94486896G>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.4918C>T p.(Arg1640Trp)" "" "Germline" "yes" "" "0" "" "" "g.94021340G>A" "" "likely pathogenic (recessive)" ""
"0000777698" "0" "90" "1" "94492937" "94492937" "subst" "0" "01695" "ABCA4_000529" "g.94492937G>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.4539+2064C>T p.[=,Arg1514Leufs*36]" "" "Germline" "" "" "0" "" "" "g.94027381G>A" "" "pathogenic (recessive)" ""
"0000777699" "0" "50" "1" "94496053" "94496053" "subst" "0.00437371" "01695" "ABCA4_000556" "g.94496053G>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.[1819G>A;4283C>T] p.[Gly607Arg;Thr1428Met]" "" "Germline" "" "" "0" "" "" "g.94030497G>A" "" "VUS" ""
"0000777700" "0" "50" "1" "94474381" "94474381" "subst" "1.21849E-5" "01695" "ABCA4_000410" "g.94474381C>T" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.5761G>A p.(Val1921Met)" "" "Germline" "" "" "0" "" "" "g.94008825C>T" "" "VUS" ""
"0000777701" "0" "90" "1" "94564011" "94564421" "del" "0" "01695" "ABCA4_002170" "g.94564011_94564421del" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.699_768+341del p.(Gln234Phefs*5)" "" "Germline" "" "" "0" "" "" "g.94098455_94098865del" "" "pathogenic (recessive)" ""
"0000777702" "2" "90" "1" "94508435" "94508436" "dup" "0" "01695" "ABCA4_000998" "g.94508435_94508436dup" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.3210_3211dup p.(Ser1071Cysfs*14)" "" "Germline" "yes" "" "0" "" "" "g.94042879_94042880dup" "" "pathogenic (recessive)" ""
"0000777703" "2" "90" "1" "94492937" "94492937" "subst" "0" "01695" "ABCA4_000529" "g.94492937G>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.4539+2064C>T p.[=,Arg1514Leufs*36]" "" "Germline" "yes" "" "0" "" "" "g.94027381G>A" "" "pathogenic (recessive)" ""
"0000777704" "2" "90" "1" "94497591" "94497591" "subst" "0" "01695" "ABCA4_000587" "g.94497591G>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.3871C>T p.(Gln1291*)" "" "Germline" "yes" "" "0" "" "" "g.94032035G>A" "" "pathogenic (recessive)" ""
"0000777705" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.5714+5G>A p.[=,Glu1863Leufs*33]" "" "Germline" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000777706" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.3386G>T p.(Arg1129Leu)" "" "Germline" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000777707" "0" "70" "1" "94496547" "94496547" "subst" "1.21904E-5" "01695" "ABCA4_000560" "g.94496547C>T" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.4253+5G>A p.(Ile1377Hisfs*3)" "" "Germline" "" "" "0" "" "" "g.94030991C>T" "" "likely pathogenic (recessive)" ""
"0000777708" "0" "70" "1" "94486896" "94486896" "subst" "3.65562E-5" "01695" "ABCA4_000085" "g.94486896G>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.4918C>T p.(Arg1640Trp)" "" "Germline" "" "" "0" "" "" "g.94021340G>A" "" "likely pathogenic (recessive)" ""
"0000777709" "2" "90" "1" "94466634" "94466634" "subst" "0" "01695" "ABCA4_001585" "g.94466634G>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.6310C>T p.(Gln2104*)" "" "Germline" "yes" "" "0" "" "" "g.94001078G>A" "" "pathogenic (recessive)" ""
"0000777710" "1" "70" "1" "94471055" "94471055" "subst" "0.00035346" "01695" "ABCA4_000029" "g.94471055C>T" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.[1A>G;6089G>A] p.[Met1Val;Arg2030Gln]" "" "Germline" "yes" "" "0" "" "" "g.94005499C>T" "" "likely pathogenic (recessive)" ""
"0000777711" "2" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.3386G>T p.(Arg1129Leu)" "" "Germline" "yes" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000777712" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.3386G>T p.(Arg1129Leu)" "" "Germline" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000777713" "2" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.3386G>T p.(Arg1129Leu)" "" "Germline" "yes" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000777714" "2" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.5461-10T>C p.(Thr1821Aspfs*6)" "" "Germline" "yes" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000777715" "0" "90" "1" "94476416" "94476416" "del" "0" "01695" "ABCA4_001671" "g.94476416del" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.5655del p.(Val1887Trpfs*6)" "" "Germline" "" "" "0" "" "" "g.94010860del" "" "pathogenic (recessive)" ""
"0000777716" "2" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.3386G>T p.(Arg1129Leu)" "" "Germline" "yes" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000777717" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.5882G>A p.(Gly1961Glu)" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000777718" "0" "90" "1" "94473833" "94473833" "del" "0" "01695" "ABCA4_001647" "g.94473833del" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.5858del p.(Pro1953Glnfs*21)" "" "Germline" "" "" "0" "" "" "g.94008277del" "" "pathogenic (recessive)" ""
"0000777719" "2" "90" "1" "94509026" "94509026" "subst" "4.06497E-5" "01695" "ABCA4_000660" "g.94509026G>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.3056C>T p.(Thr1019Met)" "" "Germline" "yes" "" "0" "" "" "g.94043470G>A" "" "pathogenic (recessive)" ""
"0000777720" "0" "50" "1" "94486888" "94486888" "subst" "3.65548E-5" "01695" "ABCA4_000137" "g.94486888G>C" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.[4926C>G;5044_5058del] p.[Ser1642Arg;Val1681_Cys1685del]" "" "Germline" "" "" "0" "" "" "g.94021332G>C" "" "VUS" ""
"0000777721" "0" "70" "1" "94485279" "94485293" "del" "0" "01695" "ABCA4_000476" "g.94485279_94485293del" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.[4926C>G;5044_5058del] p.[Ser1642Arg;Val1681_Cys1685del]" "" "Germline" "" "" "0" "" "" "g.94019723_94019737del" "" "likely pathogenic (recessive)" ""
"0000777722" "0" "90" "1" "94470995" "94470995" "subst" "0" "01695" "ABCA4_000183" "g.94470995A>T" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.6147+2T>A p.(?)" "" "Germline" "" "" "0" "" "" "g.94005439A>T" "" "pathogenic (recessive)" ""
"0000777723" "0" "90" "1" "94492937" "94492937" "subst" "0" "01695" "ABCA4_000529" "g.94492937G>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.4539+2064C>T p.[=,Arg1514Leufs*36]" "" "Germline" "" "" "0" "" "" "g.94027381G>A" "" "pathogenic (recessive)" ""
"0000777724" "0" "90" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.6320G>A p.(Arg2107His)" "" "Germline" "" "" "0" "" "" "g.94001068C>T" "" "pathogenic (recessive)" ""
"0000777725" "2" "90" "1" "94512507" "94512507" "del" "0" "01695" "ABCA4_000155" "g.94512507del" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.2888del p.(Gly963Alafs*14)" "" "Germline" "yes" "" "0" "" "" "g.94046951del" "" "pathogenic (recessive)" ""
"0000777726" "0" "50" "1" "94528137" "94528137" "subst" "2.03363E-5" "01695" "ABCA4_000774" "g.94528137C>T" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.1933G>A p.(Asp645Asn)" "" "Germline" "" "" "0" "" "" "g.94062581C>T" "" "VUS" ""
"0000777727" "2" "90" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.6320G>A p.(Arg2107His)" "" "Germline" "yes" "" "0" "" "" "g.94001068C>T" "" "pathogenic (recessive)" ""
"0000777728" "2" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.5882G>A p.(Gly1961Glu)" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000777729" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.5461-10T>C p.(Thr1821Aspfs*6)" "" "Germline" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000777730" "0" "70" "1" "94467517" "94467517" "subst" "0" "01695" "ABCA4_000786" "g.94467517A>C" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.6179T>G p.(Leu2060Arg)" "" "Germline" "" "" "0" "" "" "g.94001961A>C" "" "likely pathogenic (recessive)" ""
"0000777731" "0" "90" "1" "94471056" "94471056" "subst" "2.84398E-5" "01695" "ABCA4_000050" "g.94471056G>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.6088C>T p.(Arg2030*)" "" "Germline" "" "" "0" "" "" "g.94005500G>A" "" "pathogenic (recessive)" ""
"0000777732" "2" "70" "1" "94495083" "94495083" "subst" "0.000124542" "01695" "ABCA4_000542" "g.94495083G>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.4457C>T p.(Pro1486Leu)" "" "Germline" "yes" "" "0" "" "" "g.94029527G>A" "" "likely pathogenic (recessive)" ""
"0000777733" "2" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.3386G>T p.(Arg1129Leu)" "" "Germline" "yes" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000777734" "0" "70" "1" "94486896" "94486896" "subst" "3.65562E-5" "01695" "ABCA4_000085" "g.94486896G>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.4918C>T p.(Arg1640Trp)" "" "Germline" "" "" "0" "" "" "g.94021340G>A" "" "likely pathogenic (recessive)" ""
"0000777735" "0" "90" "1" "94497564" "94497564" "subst" "1.64383E-5" "01695" "ABCA4_000091" "g.94497564G>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.3898C>T p.(Arg1300*)" "" "Germline" "" "" "0" "" "" "g.94032008G>A" "" "pathogenic (recessive)" ""
"0000777736" "1" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.[3386G>T;6718A>G] p.[Arg1129Leu;Thr2240Ala]" "" "Germline" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000777737" "1" "50" "1" "94463428" "94463428" "subst" "1.62621E-5" "01695" "ABCA4_000854" "g.94463428T>C" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.[3386G>T;6718A>G] p.[Arg1129Leu;Thr2240Ala]" "" "Germline" "" "" "0" "" "" "g.93997872T>C" "" "VUS" ""
"0000777738" "0" "90" "1" "94470995" "94471002" "del" "0" "01695" "ABCA4_001614" "g.94470995_94471002del" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.6147_6147+7del p.(Val2050Leufs*11)" "" "Germline" "" "" "0" "" "" "g.94005439_94005446del" "" "pathogenic (recessive)" ""
"0000777739" "2" "70" "1" "94466422" "94466422" "subst" "2.43651E-5" "01695" "ABCA4_000817" "g.94466422C>T" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.6449G>A p.(Cys2150Tyr)" "" "Germline" "yes" "" "0" "" "" "g.94000866C>T" "" "likely pathogenic (recessive)" ""
"0000777740" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.1804C>T p.(Arg602Trp)" "" "Germline" "" "" "0" "" "" "g.94062710G>A" "" "pathogenic (recessive)" ""
"0000777741" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.5882G>A p.(Gly1961Glu)" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000777742" "2" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.[3386G>T;4537dup] p.[Arg1129Leu;Gln1513Profs*42]" "" "Germline" "yes" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000777743" "2" "90" "1" "94495009" "94495009" "dup" "0" "01695" "ABCA4_000087" "g.94495009dup" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.[3386G>T;4537dup] p.[Arg1129Leu;Gln1513Profs*42]" "" "Germline" "yes" "" "0" "" "" "g.94029453dup" "" "pathogenic (recessive)" ""
"0000777744" "0" "70" "1" "94473281" "94473281" "subst" "0" "01695" "ABCA4_000393" "g.94473281C>T" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.5914G>A p.(Gly1972Arg)" "" "Germline" "" "" "0" "" "" "g.94007725C>T" "" "likely pathogenic (recessive)" ""
"0000777745" "2" "70" "1" "94495083" "94495083" "subst" "0.000124542" "01695" "ABCA4_000542" "g.94495083G>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.4457C>T p.(Pro1486Leu)" "" "Germline" "yes" "" "0" "" "" "g.94029527G>A" "" "likely pathogenic (recessive)" ""
"0000777746" "2" "90" "1" "94466485" "94466485" "subst" "0" "01695" "ABCA4_001578" "g.94466485C>T" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.6387-1G>A p.(?)" "" "Germline" "yes" "" "0" "" "" "g.94000929C>T" "" "pathogenic (recessive)" ""
"0000777747" "0" "70" "1" "94467517" "94467517" "subst" "0" "01695" "ABCA4_000786" "g.94467517A>C" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.6179T>G p.(Leu2060Arg)" "" "Germline" "" "" "0" "" "" "g.94001961A>C" "" "likely pathogenic (recessive)" ""
"0000777748" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.3386G>T p.(Arg1129Leu)" "" "Germline" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000777749" "1" "10" "1" "94473846" "94473846" "subst" "0.0315833" "01695" "ABCA4_000001" "g.94473846G>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.[5843C>T;6179T>G] p.[Pro1948Leu;Leu2060Arg]" "" "Germline" "" "" "0" "" "" "g.94008290G>A" "" "benign" ""
"0000777750" "1" "70" "1" "94467517" "94467517" "subst" "0" "01695" "ABCA4_000786" "g.94467517A>C" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.[5843C>T;6179T>G] p.[Pro1948Leu;Leu2060Arg]" "" "Germline" "" "" "0" "" "" "g.94001961A>C" "" "likely pathogenic (recessive)" ""
"0000777751" "0" "50" "1" "94463428" "94463428" "subst" "1.62621E-5" "01695" "ABCA4_000854" "g.94463428T>C" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.6718A>G p.(Thr2240Ala)" "" "Germline" "" "" "0" "" "" "g.93997872T>C" "" "VUS" ""
"0000777752" "0" "70" "1" "94466461" "94466461" "subst" "0" "01695" "ABCA4_000825" "g.94466461C>T" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.6410G>A p.(Cys2137Tyr)" "" "Germline" "" "" "0" "" "" "g.94000905C>T" "" "likely pathogenic (recessive)" ""
"0000777753" "2" "70" "1" "94467475" "94467475" "subst" "1.62463E-5" "01695" "ABCA4_001599" "g.94467475C>T" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.6221G>A p.(Gly2074Asp)" "" "Germline" "yes" "" "0" "" "" "g.94001919C>T" "" "likely pathogenic (recessive)" ""
"0000777754" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.5882G>A p.(Gly1961Glu)" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000777755" "2" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.4139C>T p.(Pro1380Leu)" "" "Germline" "yes" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000777756" "0" "70" "1" "94496509" "94496509" "subst" "0.00475243" "01695" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.4253+43G>A p.[=, Ile1377Hisfs*3]" "" "Germline" "" "" "0" "" "" "g.94030953C>T" "" "likely pathogenic (recessive)" ""
"0000777757" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.5461-10T>C p.(Thr1821Aspfs*6)" "" "Germline" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000777758" "2" "90" "1" "94486966" "94486966" "del" "0" "01695" "ABCA4_001749" "g.94486966del" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.4849del p.(Val1617Cysfs*45)" "" "Germline" "yes" "" "0" "" "" "g.94021410del" "" "pathogenic (recessive)" ""
"0000777759" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.5882G>A p.(Gly1961Glu)" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000777760" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.5882G>A p.(Gly1961Glu)" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000777761" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.3386G>T p.(Arg1129Leu)" "" "Germline" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000777762" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.5882G>A p.(Gly1961Glu)" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000777763" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.5882G>A p.(Gly1961Glu)" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000777764" "1" "10" "1" "94497563" "94497563" "subst" "0.00492504" "01695" "ABCA4_000090" "g.94497563C>T" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.[2971G>C;3899G>A] p.[Gly991Arg;Arg1300Gln]" "" "Germline" "" "" "0" "" "" "g.94032007C>T" "" "benign" ""
"0000777765" "0" "90" "1" "94480241" "94480242" "ins" "0" "01695" "ABCA4_001702" "g.94480241_94480242insT" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.5317_5318insA p.(Ala1773Aspfs*14)" "" "Germline" "" "" "0" "" "" "g.94014685_94014686insT" "" "pathogenic (recessive)" ""
"0000777766" "0" "90" "1" "94520766" "94520766" "subst" "0" "01695" "ABCA4_002023" "g.94520766C>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.2488G>T p.(Glu830*)" "" "Germline" "" "" "0" "" "" "g.94055210C>A" "" "pathogenic (recessive)" ""
"0000777767" "0" "90" "1" "94495009" "94495009" "dup" "0" "01695" "ABCA4_000087" "g.94495009dup" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.4537dup p.(Gln1513Profs*42)" "" "Germline" "" "" "0" "" "" "g.94029453dup" "" "pathogenic (recessive)" ""
"0000777768" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.3386G>T p.(Arg1129Leu)" "" "Germline" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000777769" "0" "70" "1" "94496509" "94496509" "subst" "0.00475243" "01695" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.4253+43G>A p.[=,Ile1377Hisfs*3]" "" "Germline" "" "" "0" "" "" "g.94030953C>T" "" "likely pathogenic (recessive)" ""
"0000777770" "2" "70" "1" "94476853" "94476853" "subst" "4.06243E-6" "01695" "ABCA4_000429" "g.94476853A>G" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.5549T>C p.(Leu1850Pro)" "" "Germline" "yes" "" "0" "" "" "g.94011297A>G" "" "likely pathogenic (recessive)" ""
"0000777771" "1" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.[4540-8T>C;5882G>A] p.[Gln1513insProGln;Gly1961Glu]" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000777772" "2" "90" "1" "94546185" "94546185" "del" "0" "01695" "ABCA4_000350" "g.94546185del" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.950del p.(Gly317Alafs*57)" "" "Germline" "yes" "" "0" "" "" "g.94080629del" "" "pathogenic (recessive)" ""
"0000777773" "0" "70" "1" "94486896" "94486896" "subst" "3.65562E-5" "01695" "ABCA4_000085" "g.94486896G>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.4918C>T p.(Arg1640Trp)" "" "Germline" "" "" "0" "" "" "g.94021340G>A" "" "likely pathogenic (recessive)" ""
"0000777774" "1" "90" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.[3322C>T;6320G>A] p.[Arg1108Cys;Arg2107His]" "" "Germline" "" "" "0" "" "" "g.94001068C>T" "" "pathogenic (recessive)" ""
"0000777775" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.3386G>T p.(Arg1129Leu)" "" "Germline" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000777776" "0" "90" "1" "94497474" "94497474" "subst" "0" "01695" "ABCA4_000583" "g.94497474C>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.3988G>T p.(Glu1330*)" "" "Germline" "" "" "0" "" "" "g.94031918C>A" "" "pathogenic (recessive)" ""
"0000777777" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.3386G>T p.(Arg1129Leu)" "" "Germline" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000777778" "0" "70" "1" "94496509" "94496509" "subst" "0.00475243" "01695" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.4253+43G>A p.[=, Ile1377Hisfs*3]" "" "Germline" "" "" "0" "" "" "g.94030953C>T" "" "likely pathogenic (recessive)" ""
"0000777779" "1" "50" "1" "94520708" "94520708" "subst" "0.00102774" "01695" "ABCA4_000074" "g.94520708A>G" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.[634C>T;2546T>C] p.[Arg212Cys;Val849Ala]" "" "Germline" "" "" "0" "" "" "g.94055152A>G" "" "VUS" ""
"0000777780" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.5882G>A p.(Gly1961Glu)" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000777781" "0" "70" "1" "94473266" "94473266" "subst" "8.14677E-6" "01695" "ABCA4_000389" "g.94473266C>T" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.5929G>A p.(Gly1977Ser)" "" "Germline" "" "" "0" "" "" "g.94007710C>T" "" "likely pathogenic (recessive)" ""
"0000777782" "2" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.5882G>A p.(Gly1961Glu)" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000777783" "0" "70" "1" "94474323" "94474323" "subst" "2.03034E-5" "01695" "ABCA4_000156" "g.94474323A>G" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.5819T>C p.(Leu1940Pro)" "" "Germline" "" "" "0" "" "" "g.94008767A>G" "" "likely pathogenic (recessive)" ""
"0000777784" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.3386G>T p.(Arg1129Leu)" "" "Germline" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000777785" "0" "90" "1" "94466456" "94466456" "subst" "8.1217E-6" "01695" "ABCA4_000181" "g.94466456G>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.6415C>T p.(Arg2139Trp)" "" "Germline" "" "" "0" "" "" "g.94000900G>A" "" "pathogenic (recessive)" ""
"0000777786" "2" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.3386G>T p.(Arg1129Leu)" "" "Germline" "yes" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000777787" "2" "50" "1" "94463428" "94463428" "subst" "1.62621E-5" "01695" "ABCA4_000854" "g.94463428T>C" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.6718A>G p.(Thr2240Ala)" "" "Germline" "yes" "" "0" "" "" "g.93997872T>C" "" "VUS" ""
"0000777788" "1" "90" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.[3322C>T;6320G>A] p.[Arg1108Cys;Arg2107His]" "" "Germline" "yes" "" "0" "" "" "g.94001068C>T" "" "pathogenic (recessive)" ""
"0000777789" "2" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.3386G>T p.(Arg1129Leu)" "" "Germline" "yes" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000777790" "0" "90" "1" "94473278" "94473278" "del" "3.25908E-5" "01695" "ABCA4_000392" "g.94473278del" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.5917del p.(Val1973*)" "" "Germline" "" "" "0" "" "" "g.94007722del" "" "pathogenic (recessive)" ""
"0000777791" "2" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.3386G>T p.(Arg1129Leu)" "" "Germline" "yes" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000777792" "2" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.5882G>A p.(Gly1961Glu)" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000777793" "0" "90" "1" "94508386" "94508386" "subst" "1.62443E-5" "01695" "ABCA4_000642" "g.94508386C>T" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.3259G>A p.(Glu1087Lys)" "" "Germline" "" "" "0" "" "" "g.94042830C>T" "" "pathogenic (recessive)" ""
"0000777794" "2" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.3386G>T p.(Arg1129Leu)" "" "Germline" "yes" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000777795" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.3386G>T p.(Arg1129Leu)" "" "Germline" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000777796" "2" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.5882G>A p.(Gly1961Glu)" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000777797" "2" "70" "1" "94471055" "94471055" "subst" "0.00035346" "01695" "ABCA4_000029" "g.94471055C>T" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.6089G>A p.(Arg2030Gln)" "" "Germline" "yes" "" "0" "" "" "g.94005499C>T" "" "likely pathogenic (recessive)" ""
"0000777798" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.5714+5G>A p.[=,Glu1863Leufs*33]" "" "Germline" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000777799" "2" "90" "1" "94466628" "94466628" "subst" "0.000109748" "01695" "ABCA4_000094" "g.94466628G>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.6316C>T p.(Arg2106Cys)" "" "Germline" "yes" "" "0" "" "" "g.94001072G>A" "" "pathogenic (recessive)" ""
"0000777800" "1" "70" "1" "94485279" "94485293" "del" "0" "01695" "ABCA4_000476" "g.94485279_94485293del" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.[4926C>G;5044_5058del] p.[Ser1642Arg;Val1682_Val1686del]" "" "Germline" "yes" "" "0" "" "" "g.94019723_94019737del" "" "likely pathogenic (recessive)" ""
"0000777801" "2" "70" "1" "94466564" "94466564" "subst" "0" "01695" "ABCA4_001579" "g.94466564G>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.6380C>T p.(Ser2127Phe)" "" "Germline" "yes" "" "0" "" "" "g.94001008G>A" "" "likely pathogenic (recessive)" ""
"0000777802" "2" "70" "1" "94506923" "94506923" "subst" "2.43657E-5" "01695" "ABCA4_000012" "g.94506923C>T" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.3364G>A p.(Glu1122Lys)" "" "Germline" "yes" "" "0" "" "" "g.94041367C>T" "" "likely pathogenic (recessive)" ""
"0000777803" "2" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.3386G>T p.(Arg1129Leu)" "" "Germline" "yes" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000777804" "2" "70" "1" "94474323" "94474323" "subst" "2.03034E-5" "01695" "ABCA4_000156" "g.94474323A>G" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.5819T>C p.(Leu1940Pro)" "" "Germline" "yes" "" "0" "" "" "g.94008767A>G" "" "likely pathogenic (recessive)" ""
"0000777805" "0" "70" "1" "94467480" "94467480" "subst" "0" "01695" "ABCA4_001600" "g.94467480A>T" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.6216T>A p.(Ser2072Arg)" "" "Germline" "" "" "0" "" "" "g.94001924A>T" "" "likely pathogenic (recessive)" ""
"0000777806" "2" "70" "1" "94473266" "94473266" "subst" "8.14677E-6" "01695" "ABCA4_000389" "g.94473266C>T" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.5929G>A p.(Gly1977Ser)" "" "Germline" "yes" "" "0" "" "" "g.94007710C>T" "" "likely pathogenic (recessive)" ""
"0000777807" "1" "70" "1" "94486896" "94486896" "subst" "3.65562E-5" "01695" "ABCA4_000085" "g.94486896G>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.[4222T>C;4918C>T] p.[Trp1408Arg;Arg1640Trp]" "" "Germline" "" "" "0" "" "" "g.94021340G>A" "" "likely pathogenic (recessive)" ""
"0000777808" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.5882G>A p.(Gly1961Glu)" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000777809" "0" "90" "1" "94492937" "94492937" "subst" "0" "01695" "ABCA4_000529" "g.94492937G>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.4539+2064C>T p.[=,Arg1514Leufs*36]" "" "Germline" "" "" "0" "" "" "g.94027381G>A" "" "pathogenic (recessive)" ""
"0000777810" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.5461-10T>C p.(Thr1821Aspfs*6)" "" "Germline" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000777811" "2" "70" "1" "94467424" "94467424" "subst" "0" "01695" "ABCA4_001592" "g.94467424A>T" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.6272T>A p.(Leu2091Gln)" "" "Germline" "yes" "" "0" "" "" "g.94001868A>T" "" "likely pathogenic (recessive)" ""
"0000777812" "0" "70" "1" "94476426" "94476426" "subst" "0" "01695" "ABCA4_000420" "g.94476426T>C" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.5644A>G p.(Met1882Val)" "" "Germline" "" "" "0" "" "" "g.94010870T>C" "" "likely pathogenic (recessive)" ""
"0000777813" "0" "90" "1" "94495188" "94495188" "subst" "0" "01695" "ABCA4_001818" "g.94495188C>T" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.4353-1G>A p.(?)" "" "Germline" "" "" "0" "" "" "g.94029632C>T" "" "pathogenic (recessive)" ""
"0000777814" "0" "50" "1" "94463428" "94463428" "subst" "1.62621E-5" "01695" "ABCA4_000854" "g.94463428T>C" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.[3386G>T;6718A>G] p.[Arg1129Leu;Thr2240Ala]" "" "Germline" "" "" "0" "" "" "g.93997872T>C" "" "VUS" ""
"0000777815" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.5882G>A p.(Gly1961Glu)" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000777816" "2" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.3386G>T p.(Arg1129Leu)" "" "Germline" "yes" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000777817" "2" "70" "1" "94510164" "94510164" "subst" "1.62441E-5" "01695" "ABCA4_000144" "g.94510164C>T" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.3050+5G>A p.(Leu973_His1017delinsPhe)" "" "Germline" "yes" "" "0" "" "" "g.94044608C>T" "" "likely pathogenic (recessive)" ""
"0000777818" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.3386G>T p.(Arg1129Leu)" "" "Germline" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000777819" "1" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.[2588G>C;5461-10T>C] p.[Gly863Ala,Gly863del;Thr1821Aspfs*6)]" "" "Germline" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000777820" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.5603A>T p.(Asn1868Ile)" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000777821" "0" "70" "1" "94467517" "94467517" "subst" "0" "01695" "ABCA4_000786" "g.94467517A>C" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.6179T>G p.(Leu2060Arg)" "" "Germline" "" "" "0" "" "" "g.94001961A>C" "" "likely pathogenic (recessive)" ""
"0000777822" "0" "70" "1" "94487251" "94487251" "subst" "2.85679E-5" "01695" "ABCA4_000490" "g.94487251G>T" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.4793C>A p.(Ala1598Asp)" "" "Germline" "" "" "0" "" "" "g.94021695G>T" "" "likely pathogenic (recessive)" ""
"0000777823" "2" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.5882G>A p.(Gly1961Glu)" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000777824" "2" "90" "1" "94497474" "94497474" "subst" "0" "01695" "ABCA4_000583" "g.94497474C>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.3988G>T p.(Glu1330*)" "" "Germline" "yes" "" "0" "" "" "g.94031918C>A" "" "pathogenic (recessive)" ""
"0000777825" "0" "70" "1" "94484001" "94484001" "subst" "0" "01695" "ABCA4_000016" "g.94484001C>T" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.5196+1137G>A p.[Met1733Glufs*78,=]" "" "Germline" "" "" "0" "" "" "g.94018445C>T" "" "likely pathogenic (recessive)" ""
"0000777826" "2" "90" "1" "94497519" "94497519" "subst" "0" "01695" "ABCA4_000585" "g.94497519G>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.3943C>T p.(Gln1315*)" "" "Germline" "yes" "" "0" "" "" "g.94031963G>A" "" "pathogenic (recessive)" ""
"0000777827" "0" "50" "1" "94463428" "94463428" "subst" "1.62621E-5" "01695" "ABCA4_000854" "g.94463428T>C" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.6718A>G p.(Thr2240Ala)" "" "Germline" "" "" "0" "" "" "g.93997872T>C" "" "VUS" ""
"0000777828" "0" "90" "1" "94492937" "94492937" "subst" "0" "01695" "ABCA4_000529" "g.94492937G>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.4539+2064C>T p.[=,Arg1514Leufs*36]" "" "Germline" "" "" "0" "" "" "g.94027381G>A" "" "pathogenic (recessive)" ""
"0000777829" "0" "70" "1" "94474323" "94474323" "subst" "2.03034E-5" "01695" "ABCA4_000156" "g.94474323A>G" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.5819T>C p.(Leu1940Pro)" "" "Germline" "" "" "0" "" "" "g.94008767A>G" "" "likely pathogenic (recessive)" ""
"0000777830" "2" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.3386G>T p.(Arg1129Leu)" "" "Germline" "yes" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000777831" "0" "90" "1" "94526154" "94526154" "subst" "4.06441E-6" "01695" "ABCA4_000752" "g.94526154C>T" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.2099G>A p.(Trp700*)" "" "Germline" "" "" "0" "" "" "g.94060598C>T" "" "pathogenic (recessive)" ""
"0000777832" "2" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.3386G>T p.(Arg1129Leu)" "" "Germline" "yes" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000777833" "1" "90" "1" "94520773" "94520773" "del" "0" "01695" "ABCA4_002025" "g.94520773del" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.[2483C>T;2481del] p.[Pro828Leu;Thr829Argfs*14]" "" "Germline" "" "" "0" "" "" "g.94055217del" "" "pathogenic (recessive)" ""
"0000777834" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.5603A>T p.(Asn1868Ile)" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000777835" "0" "70" "1" "94466461" "94466461" "subst" "0" "01695" "ABCA4_000825" "g.94466461C>T" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.6410G>A p.(Cys2137Tyr)" "" "Germline" "" "" "0" "" "" "g.94000905C>T" "" "likely pathogenic (recessive)" ""
"0000777836" "0" "70" "1" "94476853" "94476853" "subst" "4.06243E-6" "01695" "ABCA4_000429" "g.94476853A>G" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.5549T>C p.(Leu1850Pro)" "" "Germline" "" "" "0" "" "" "g.94011297A>G" "" "likely pathogenic (recessive)" ""
"0000777837" "2" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.2588G>C p.[Gly863Ala,Gly863del]" "" "Germline" "yes" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000777838" "0" "90" "1" "94492937" "94492937" "subst" "0" "01695" "ABCA4_000529" "g.94492937G>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.4539+2064C>T p.[=,Arg1514Leufs*36]" "" "Germline" "" "" "0" "" "" "g.94027381G>A" "" "pathogenic (recessive)" ""
"0000777839" "0" "70" "1" "94467517" "94467517" "subst" "0" "01695" "ABCA4_000786" "g.94467517A>C" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.6179T>G p.(Leu2060Arg)" "" "Germline" "" "" "0" "" "" "g.94001961A>C" "" "likely pathogenic (recessive)" ""
"0000777840" "1" "70" "1" "94471073" "94471073" "subst" "0" "01695" "ABCA4_001627" "g.94471073T>C" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.[3322C>T;6071A>G] p.[Arg1108His;Asp2024Gly]" "" "Germline" "yes" "" "0" "" "" "g.94005517T>C" "" "likely pathogenic (recessive)" ""
"0000777841" "2" "70" "1" "94495083" "94495083" "subst" "0.000124542" "01695" "ABCA4_000542" "g.94495083G>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.4457C>T p.(Pro1486Leu)" "" "Germline" "yes" "" "0" "" "" "g.94029527G>A" "" "likely pathogenic (recessive)" ""
"0000777842" "2" "90" "1" "94485137" "94485137" "subst" "0" "01695" "ABCA4_000464" "g.94485137C>T" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.5196+1G>A p.(?)" "" "Germline" "yes" "" "0" "" "" "g.94019581C>T" "" "pathogenic (recessive)" ""
"0000777843" "0" "90" "1" "94473854" "94473854" "subst" "0" "01695" "ABCA4_001648" "g.94473854C>G" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.5836-1G>C p.(?)" "" "Germline" "" "" "0" "" "" "g.94008298C>G" "" "pathogenic (recessive)" ""
"0000777844" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.5882G>A p.(Gly1961Glu)" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000777845" "2" "90" "1" "94487404" "94487404" "del" "0" "01695" "ABCA4_001760" "g.94487404del" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.4773+1del p.(?)" "" "Germline" "yes" "" "0" "" "" "g.94021848del" "" "pathogenic (recessive)" ""
"0000777846" "2" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.3386G>T p.(Arg1129Leu)" "" "Germline" "yes" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000777847" "2" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.5714+5G>A p.[=,Glu1863Leufs*33]" "" "Germline" "yes" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000777848" "0" "90" "1" "94492937" "94492937" "subst" "0" "01695" "ABCA4_000529" "g.94492937G>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.4539+2064C>T p.[=,Arg1514Leufs*36]" "" "Germline" "" "" "0" "" "" "g.94027381G>A" "" "pathogenic (recessive)" ""
"0000777849" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.3386G>T p.(Arg1129Leu)" "" "Germline" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000777850" "3" "70" "1" "94485279" "94485293" "del" "0" "01695" "ABCA4_000476" "g.94485279_94485293del" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.[4926C>G;5044_5058del] p.[Ser1642Arg; Val1681_Cys1685del]" "" "Germline" "" "" "0" "" "" "g.94019723_94019737del" "" "likely pathogenic (recessive)" ""
"0000777851" "0" "90" "1" "94492937" "94492937" "subst" "0" "01695" "ABCA4_000529" "g.94492937G>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.4539+2064C>T p.[=, Arg1514Leufs*36]#" "" "Germline" "" "" "0" "" "" "g.94027381G>A" "" "pathogenic (recessive)" ""
"0000777852" "0" "70" "1" "94471055" "94471055" "subst" "0.00035346" "01695" "ABCA4_000029" "g.94471055C>T" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.6089G>A p.(Arg2030Gln)" "" "Germline" "" "" "0" "" "" "g.94005499C>T" "" "likely pathogenic (recessive)" ""
"0000777853" "2" "70" "1" "94473266" "94473266" "subst" "8.14677E-6" "01695" "ABCA4_000389" "g.94473266C>T" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.5929G>A p.(Gly1977Ser)" "" "Germline" "yes" "" "0" "" "" "g.94007710C>T" "" "likely pathogenic (recessive)" ""
"0000777854" "1" "70" "1" "94496509" "94496509" "subst" "0.00475243" "01695" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.[4253+43G>A;5603A>T] p.[=,Ile1377Hisfs*3](;)(Asn1868Ile)" "" "Germline" "" "" "0" "" "" "g.94030953C>T" "" "likely pathogenic (recessive)" ""
"0000777855" "1" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.[4253+43G>A;5603A>T] p.[=,Ile1377Hisfs*3](;)(Asn1868Ile)" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000777856" "2" "90" "1" "94508353" "94508353" "subst" "2.8431E-5" "01695" "ABCA4_000141" "g.94508353G>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.3292C>T p.(Arg1098Cys)" "" "Germline" "yes" "" "0" "" "" "g.94042797G>A" "" "pathogenic (recessive)" ""
"0000777857" "2" "90" "1" "94492937" "94492937" "subst" "0" "01695" "ABCA4_000529" "g.94492937G>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.4539+2064C>T p.[=,Arg1514Leufs*36]" "" "Germline" "yes" "" "0" "" "" "g.94027381G>A" "" "pathogenic (recessive)" ""
"0000777858" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.3386G>T p.(Arg1129Leu)" "" "Germline" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000777859" "0" "90" "1" "94492937" "94492937" "subst" "0" "01695" "ABCA4_000529" "g.94492937G>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.4539+2064C>T p.[=,Arg1514Leufs*36]" "" "Germline" "" "" "0" "" "" "g.94027381G>A" "" "pathogenic (recessive)" ""
"0000777860" "1" "50" "1" "94463428" "94463428" "subst" "1.62621E-5" "01695" "ABCA4_000854" "g.94463428T>C" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.[3386G>T;6718A>G] p.[Arg1129Leu;Thr2240Ala]" "" "Germline" "yes" "" "0" "" "" "g.93997872T>C" "" "VUS" ""
"0000777861" "2" "70" "1" "94496547" "94496547" "subst" "1.21904E-5" "01695" "ABCA4_000560" "g.94496547C>T" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.4253+5G>A p.(Ile1377Hisfs*3)" "" "Germline" "yes" "" "0" "" "" "g.94030991C>T" "" "likely pathogenic (recessive)" ""
"0000777862" "2" "70" "1" "94476426" "94476426" "subst" "0" "01695" "ABCA4_000420" "g.94476426T>C" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.5644A>G p.(Met1882Val)" "" "Germline" "yes" "" "0" "" "" "g.94010870T>C" "" "likely pathogenic (recessive)" ""
"0000777863" "2" "70" "1" "94508368" "94508368" "subst" "0" "01695" "ABCA4_001930" "g.94508368C>T" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.3277G>A p.(Asp1093Asn)" "" "Germline" "yes" "" "0" "" "" "g.94042812C>T" "" "likely pathogenic (recessive)" ""
"0000777864" "0" "50" "1" "94463428" "94463428" "subst" "1.62621E-5" "01695" "ABCA4_000854" "g.94463428T>C" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.6718A>G p.(Thr2240Ala)" "" "Germline" "" "" "0" "" "" "g.93997872T>C" "" "VUS" ""
"0000777865" "0" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.4469G>A p.(Cys1490Tyr)" "" "Germline" "" "" "0" "" "" "g.94029515C>T" "" "likely pathogenic (recessive)" ""
"0000777866" "0" "70" "1" "94495083" "94495083" "subst" "0.000124542" "01695" "ABCA4_000542" "g.94495083G>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.4457C>T p.(Pro1486Leu)" "" "Germline" "" "" "0" "" "" "g.94029527G>A" "" "likely pathogenic (recessive)" ""
"0000777867" "2" "70" "1" "94474323" "94474323" "subst" "2.03034E-5" "01695" "ABCA4_000156" "g.94474323A>G" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.5819T>C p.(Leu1940Pro)" "" "Germline" "yes" "" "0" "" "" "g.94008767A>G" "" "likely pathogenic (recessive)" ""
"0000777868" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.5603A>T p.(Asn1868Ile)" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000777869" "0" "50" "1" "94463428" "94463428" "subst" "1.62621E-5" "01695" "ABCA4_000854" "g.94463428T>C" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.6718A>G p.(Thr2240Ala)" "" "Germline" "" "" "0" "" "" "g.93997872T>C" "" "VUS" ""
"0000777870" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.3386G>T p.(Arg1129Leu)" "" "Germline" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000777871" "0" "70" "1" "94474323" "94474323" "subst" "2.03034E-5" "01695" "ABCA4_000156" "g.94474323A>G" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.5819T>C p.(Leu1940Pro)" "" "Germline" "" "" "0" "" "" "g.94008767A>G" "" "likely pathogenic (recessive)" ""
"0000777872" "2" "90" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.634C>T p.(Arg212Cys)" "" "Germline" "yes" "" "0" "" "" "g.94098928G>A" "" "pathogenic (recessive)" ""
"0000777873" "0" "90" "1" "94463587" "94463587" "subst" "0" "01695" "ABCA4_000136" "g.94463587G>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.6559C>T p.(Gln2187*)" "" "Germline" "" "" "0" "" "" "g.93998031G>A" "" "pathogenic (recessive)" ""
"0000777874" "2" "70" "1" "94466461" "94466461" "subst" "0" "01695" "ABCA4_000825" "g.94466461C>T" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.6410G>A p.(Cys2137Tyr)" "" "Germline" "yes" "" "0" "" "" "g.94000905C>T" "" "likely pathogenic (recessive)" ""
"0000777875" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.4139C>T p.(Pro1380Leu)" "" "Germline" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000777876" "2" "70" "1" "94528761" "94528761" "subst" "0" "01695" "ABCA4_002093" "g.94528761A>C" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.1667T>G p.(Met556Arg)" "" "Germline" "yes" "" "0" "" "" "g.94063205A>C" "" "likely pathogenic (recessive)" ""
"0000777877" "2" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.5882G>A p.(Gly1961Glu)" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000777878" "0" "70" "1" "94496548" "94496548" "subst" "2.43787E-5" "01695" "ABCA4_000088" "g.94496548G>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.4253+4C>T p.(Ile1377Hisfs*3)" "" "Germline" "" "" "0" "" "" "g.94030992G>A" "" "likely pathogenic (recessive)" ""
"0000777879" "0" "70" "1" "94476427" "94476441" "dup" "0" "01695" "ABCA4_000421" "g.94476427_94476441dup" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.5630_5644dup p.(Lys1877_Ala1881dup)" "" "Germline" "" "" "0" "" "" "g.94010871_94010885dup" "" "likely pathogenic (recessive)" ""
"0000777880" "2" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.5882G>A p.(Gly1961Glu)" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000777881" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.5882G>A p.(Gly1961Glu)" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000777882" "0" "90" "1" "94495104" "94495104" "subst" "0" "01695" "ABCA4_001216" "g.94495104C>T" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.4436G>A p.(Trp1479*)" "" "Germline" "" "" "0" "" "" "g.94029548C>T" "" "pathogenic (recessive)" ""
"0000777883" "0" "70" "1" "94466434" "94466434" "subst" "0" "01695" "ABCA4_001574" "g.94466434C>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.6437G>T p.(Gly2146Val)" "" "Germline" "" "" "0" "" "" "g.94000878C>A" "" "likely pathogenic (recessive)" ""
"0000777884" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.3386G>T p.(Arg1129Leu)" "" "Germline" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000777885" "2" "70" "1" "94480241" "94480241" "subst" "7.71705E-5" "01695" "ABCA4_000446" "g.94480241G>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.5318C>T p.(Ala1773Val)" "" "Germline" "yes" "" "0" "" "" "g.94014685G>A" "" "likely pathogenic (recessive)" ""
"0000777886" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.3386G>T p.(Arg1129Leu)" "" "Germline" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000777887" "0" "70" "1" "94508394" "94508394" "subst" "0" "01695" "ABCA4_001933" "g.94508394A>G" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.3251T>C p.(Ille1084Thr)" "" "Germline" "" "" "0" "" "" "g.94042838A>G" "" "likely pathogenic (recessive)" ""
"0000777888" "0" "70" "1" "94466422" "94466422" "subst" "2.43651E-5" "01695" "ABCA4_000817" "g.94466422C>T" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.6449G>A p.(Cys2150Tyr)" "" "Germline" "" "" "0" "" "" "g.94000866C>T" "" "likely pathogenic (recessive)" ""
"0000777889" "2" "90" "1" "94486966" "94486966" "del" "0" "01695" "ABCA4_001749" "g.94486966del" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.4849del p.(Val1617Cysfs*45)" "" "Germline" "yes" "" "0" "" "" "g.94021410del" "" "pathogenic (recessive)" ""
"0000777890" "0" "70" "1" "94476853" "94476853" "subst" "4.06243E-6" "01695" "ABCA4_000429" "g.94476853A>G" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.5549T>C p.(Leu1850Pro)" "" "Germline" "" "" "0" "" "" "g.94011297A>G" "" "likely pathogenic (recessive)" ""
"0000777891" "0" "70" "1" "94480241" "94480241" "subst" "7.71705E-5" "01695" "ABCA4_000446" "g.94480241G>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.5318C>T p.(Ala1773Val)" "" "Germline" "" "" "0" "" "" "g.94014685G>A" "" "likely pathogenic (recessive)" ""
"0000777892" "1" "90" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.[3322C>T;6320G>A] p.[Arg1108Cys;Arg2107His]" "" "Germline" "" "" "0" "" "" "g.94001068C>T" "" "pathogenic (recessive)" ""
"0000777893" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.5882G>A p.(Gly1961Glu)" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000777894" "0" "90" "1" "94476942" "94476942" "subst" "0" "01695" "ABCA4_001487" "g.94476942C>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.5461-1G>T p.(?)" "" "Germline" "" "" "0" "" "" "g.94011386C>A" "" "pathogenic (recessive)" ""
"0000777895" "0" "50" "1" "94463428" "94463428" "subst" "1.62621E-5" "01695" "ABCA4_000854" "g.94463428T>C" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.6718A>G p.(Thr2240Ala)" "" "Germline" "" "" "0" "" "" "g.93997872T>C" "" "VUS" ""
"0000777896" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.3386G>T p.(Arg1129Leu)" "" "Germline" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000777897" "0" "70" "1" "94485279" "94485293" "del" "0" "01695" "ABCA4_000476" "g.94485279_94485293del" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.5044_5058del p.(Val1682_Val1686del)" "" "Germline" "" "" "0" "" "" "g.94019723_94019737del" "" "likely pathogenic (recessive)" ""
"0000777898" "0" "70" "1" "94495083" "94495083" "subst" "0.000124542" "01695" "ABCA4_000542" "g.94495083G>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.4457C>T p.(Pro1486Leu)" "" "Germline" "" "" "0" "" "" "g.94029527G>A" "" "likely pathogenic (recessive)" ""
"0000777899" "0" "90" "1" "94497519" "94497519" "subst" "0" "01695" "ABCA4_000585" "g.94497519G>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.3943C>T p.(Gln1315*)" "" "Germline" "" "" "0" "" "" "g.94031963G>A" "" "pathogenic (recessive)" ""
"0000777900" "0" "90" "1" "94466615" "94466615" "subst" "0" "01695" "ABCA4_000836" "g.94466615C>T" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.6329G>A p.(Trp2110*)" "" "Germline" "" "" "0" "" "" "g.94001059C>T" "" "pathogenic (recessive)" ""
"0000777901" "0" "70" "1" "94474323" "94474323" "subst" "2.03034E-5" "01695" "ABCA4_000156" "g.94474323A>G" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.5819T>C p.(Leu1940Pro)" "" "Germline" "" "" "0" "" "" "g.94008767A>G" "" "likely pathogenic (recessive)" ""
"0000777902" "1" "90" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.[3322C>T;6320G>A] p.[Arg1108Cys;Arg2107His]" "" "Germline" "" "" "0" "" "" "g.94001068C>T" "" "pathogenic (recessive)" ""
"0000777903" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.5461-10T>C p.(Thr1821Aspfs*6)" "" "Germline" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000777904" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.5882G>A p.(Gly1961Glu)" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000777905" "0" "70" "1" "94473266" "94473266" "subst" "8.14677E-6" "01695" "ABCA4_000389" "g.94473266C>T" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.5929G>A p.(Gly1977Ser)" "" "Germline" "" "" "0" "" "" "g.94007710C>T" "" "likely pathogenic (recessive)" ""
"0000777906" "0" "70" "1" "94497392" "94497392" "subst" "0" "01695" "ABCA4_000577" "g.94497392G>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.4070C>T p.(Ala1357Val)" "" "Germline" "" "" "0" "" "" "g.94031836G>A" "" "likely pathogenic (recessive)" ""
"0000777907" "1" "90" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.[3322C>T;6320G>A] p.[Arg1108Cys;Arg2107His]" "" "Germline" "yes" "" "0" "" "" "g.94001068C>T" "" "pathogenic (recessive)" ""
"0000777908" "2" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.3386G>T p.(Arg1129Leu)" "" "Germline" "yes" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000777909" "2" "70" "1" "94473296" "94473296" "subst" "0" "01695" "ABCA4_001642" "g.94473296A>C" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.5899T>G p.(Cys1967Gly)" "" "Germline" "yes" "" "0" "" "" "g.94007740A>C" "" "likely pathogenic (recessive)" ""
"0000777910" "3" "50" "1" "94463428" "94463428" "subst" "1.62621E-5" "01695" "ABCA4_000854" "g.94463428T>C" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.[3386G>T;6718A>G] p.[Arg1129Leu;Thr2240Ala]" "" "Germline" "yes" "" "0" "" "" "g.93997872T>C" "" "VUS" ""
"0000777911" "0" "70" "1" "94496548" "94496548" "subst" "2.43787E-5" "01695" "ABCA4_000088" "g.94496548G>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.4253+4C>T p.(Ile1377Hisfs*3)" "" "Germline" "" "" "0" "" "" "g.94030992G>A" "" "likely pathogenic (recessive)" ""
"0000777912" "1" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.[5461-10T>C;5603A>T] p.[Thr1821Aspfs*6,Thr1821Valfs*13;Asn1868Ile]" "" "Germline" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000777913" "1" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.[5461-10T>C;5603A>T] p.[Thr1821Aspfs*6,Thr1821Valfs*13;Asn1868Ile]" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000777914" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.5714+5G>A p.[=,Glu1863Leufs*33]" "" "Germline" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000777915" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.5461-10T>C p.(Thr1821Aspfs*6)" "" "Germline" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000777916" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.3386G>T p.(Arg1129Leu)" "" "Germline" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000777917" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.3386G>T p.(Arg1129Leu)" "" "Germline" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000777918" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.5882G>A p.(Gly1961Glu)" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000777919" "0" "90" "1" "94512507" "94512507" "del" "0" "01695" "ABCA4_000155" "g.94512507del" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.2888del p.(Gly963Alafs*14)" "" "Germline" "" "" "0" "" "" "g.94046951del" "" "pathogenic (recessive)" ""
"0000777920" "0" "70" "1" "94473214" "94473214" "subst" "0" "01695" "ABCA4_001633" "g.94473214C>T" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.5981G>A p.(Gly1994Glu)" "" "Germline" "" "" "0" "" "" "g.94007658C>T" "" "likely pathogenic (recessive)" ""
"0000777921" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.[1622T>C;3113C>T] p.[Leu541Pro;Ala1038Val]" "" "Germline" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000777922" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.5882G>A p.(Gly1961Glu)" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000777923" "0" "70" "1" "94480241" "94480241" "subst" "7.71705E-5" "01695" "ABCA4_000446" "g.94480241G>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.5318C>T p.(Ala1773Val)" "" "Germline" "" "" "0" "" "" "g.94014685G>A" "" "likely pathogenic (recessive)" ""
"0000777924" "0" "70" "1" "94476847" "94476873" "dup" "0" "01695" "ABCA4_001684" "g.94476847_94476873dup" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.5531_5557dup p.(Gly1844_Gln1852dup)" "" "Germline" "" "" "0" "" "" "g.94011291_94011317dup" "" "likely pathogenic (recessive)" ""
"0000777925" "0" "70" "1" "94486895" "94486895" "subst" "3.24923E-5" "01695" "ABCA4_000484" "g.94486895C>T" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.4919G>A p.(Arg1640Gln)" "" "Germline" "" "" "0" "" "" "g.94021339C>T" "" "likely pathogenic (recessive)" ""
"0000777926" "2" "90" "1" "94487455" "94487455" "subst" "4.06128E-6" "01695" "ABCA4_000504" "g.94487455C>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.4720G>T p.(Glu1574*)" "" "Germline" "yes" "" "0" "" "" "g.94021899C>A" "" "pathogenic (recessive)" ""
"0000777927" "2" "70" "1" "94480241" "94480241" "subst" "7.71705E-5" "01695" "ABCA4_000446" "g.94480241G>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.5318C>T p.(Ala1773Val)" "" "Germline" "yes" "" "0" "" "" "g.94014685G>A" "" "likely pathogenic (recessive)" ""
"0000777928" "2" "90" "1" "94495009" "94495009" "dup" "0" "01695" "ABCA4_000087" "g.94495009dup" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.4537dup p.(Gln1513Profs*42)" "" "Germline" "yes" "" "0" "" "" "g.94029453dup" "" "pathogenic (recessive)" ""
"0000777929" "0" "90" "1" "94463458" "94463458" "del" "0" "01695" "ABCA4_001566" "g.94463458del" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.6688del p.(Leu2230Serfs*17)" "" "Germline" "" "" "0" "" "" "g.93997902del" "" "pathogenic (recessive)" ""
"0000777930" "0" "70" "1" "94487251" "94487251" "subst" "2.85679E-5" "01695" "ABCA4_000490" "g.94487251G>T" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.4793C>A p.(Ala1598Asp)" "" "Germline" "" "" "0" "" "" "g.94021695G>T" "" "likely pathogenic (recessive)" ""
"0000777931" "0" "70" "1" "94485279" "94485293" "del" "0" "01695" "ABCA4_000476" "g.94485279_94485293del" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.5044_5058del p.(Val1682_Val1686del)" "" "Germline" "" "" "0" "" "" "g.94019723_94019737del" "" "likely pathogenic (recessive)" ""
"0000777932" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.5882G>A p.(Gly1961Glu)" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000777933" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.5882G>A p.(Gly1961Glu)" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000777934" "0" "70" "1" "94495083" "94495083" "subst" "0.000124542" "01695" "ABCA4_000542" "g.94495083G>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.4457C>T p.(Pro1486Leu)" "" "Germline" "" "" "0" "" "" "g.94029527G>A" "" "likely pathogenic (recessive)" ""
"0000777935" "2" "70" "1" "94495083" "94495083" "subst" "0.000124542" "01695" "ABCA4_000542" "g.94495083G>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.4457C>T p.(Pro1486Leu)" "" "Germline" "yes" "" "0" "" "" "g.94029527G>A" "" "likely pathogenic (recessive)" ""
"0000777936" "0" "70" "1" "94496547" "94496547" "subst" "1.21904E-5" "01695" "ABCA4_000560" "g.94496547C>T" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.4253+5G>A p.(Ile1377Hisfs*3)" "" "Germline" "" "" "0" "" "" "g.94030991C>T" "" "likely pathogenic (recessive)" ""
"0000777937" "0" "70" "1" "94474323" "94474323" "subst" "2.03034E-5" "01695" "ABCA4_000156" "g.94474323A>G" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.5819T>C p.(Leu1940Pro)" "" "Germline" "" "" "0" "" "" "g.94008767A>G" "" "likely pathogenic (recessive)" ""
"0000777938" "0" "70" "1" "94463499" "94463499" "subst" "1.21857E-5" "01695" "ABCA4_001568" "g.94463499G>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.6647C>T p.(Ala2216Val)" "" "Germline" "" "" "0" "" "" "g.93997943G>A" "" "likely pathogenic (recessive)" ""
"0000777939" "0" "70" "1" "94486896" "94486896" "subst" "3.65562E-5" "01695" "ABCA4_000085" "g.94486896G>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.4918C>T p.(Arg1640Trp)" "" "Germline" "" "" "0" "" "" "g.94021340G>A" "" "likely pathogenic (recessive)" ""
"0000777940" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Del Pozo-Valero 2020:32619608}" "" "c.3386G>T p.(Arg1129Leu)" "" "Germline" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000777941" "3" "70" "1" "94487279" "94487279" "subst" "0" "01695" "ABCA4_001757" "g.94487279C>T" "" "{PMID:Toulis 2020:32244552}" "" "c.4774-9 G>A" "" "Germline" "" "" "0" "" "" "g.94021723C>T" "" "likely pathogenic (recessive)" ""
"0000777942" "3" "70" "1" "94486973" "94486973" "subst" "0" "01695" "ABCA4_001750" "g.94486973G>C" "" "{PMID:Toulis 2020:32244552}" "" "c.4849-8 C>G" "" "Germline" "" "" "0" "" "" "g.94021417G>C" "" "likely pathogenic (recessive)" ""
"0000777943" "1" "70" "1" "94528143" "94528143" "subst" "0.00124448" "01695" "ABCA4_000076" "g.94528143C>T" "" "{PMID:Wang 2014:25097241}" "" "c.1927G>A (p.V643M) c.3602T>G (p.L1201R)" "" "Germline" "" "" "0" "" "" "g.94062587C>T" "" "likely pathogenic (recessive)" ""
"0000777944" "2" "10" "1" "94505604" "94505604" "subst" "0.00645586" "01695" "ABCA4_000092" "g.94505604A>C" "" "{PMID:Wang 2014:25097241}" "" "c.1927G>A (p.V643M) c.3602T>G (p.L1201R)" "" "Germline" "" "" "0" "" "" "g.94040048A>C" "" "benign" ""
"0000777945" "2" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Wang 2014:25097241}" "" "c.5461-10T>C" "" "Germline" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000777946" "2" "10" "1" "94512565" "94512565" "subst" "0.030364" "01695" "ABCA4_000002" "g.94512565C>T" "" "{PMID:Wang 2014:25097241}" "" "c.2828G>A" "" "Germline" "" "" "0" "" "" "g.94047009C>T" "" "benign" ""
"0000777947" "2" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Wang 2014:25097241}" "" "c.5882G>A" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000777948" "2" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Wang 2014:25097241}" "" "" "" "Germline" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000777949" "0" "90" "1" "94528132" "94528132" "subst" "4.06835E-6" "01695" "ABCA4_000773" "g.94528132C>T" "" "{PMID:Consugar 2015:25412400}" "" "c.1937+1G>A r. spl" "" "Germline" "" "" "0" "" "" "g.94062576C>T" "" "pathogenic (recessive)" ""
"0000777950" "0" "70" "1" "94543290" "94543290" "subst" "4.06448E-6" "01695" "ABCA4_002116" "g.94543290T>G" "" "{PMID:Consugar 2015:25412400}" "" "c.1510A>C p.(Asn504His)" "" "Germline" "" "" "0" "" "" "g.94077734T>G" "" "likely pathogenic (recessive)" ""
"0000777951" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Consugar 2015:25412400}" "" "c.[3113G>A; 622A>G] p.[(Ala1038Val; Leu541Pro)]" "" "Germline" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000777952" "0" "70" "1" "94512496" "94512496" "subst" "0" "01695" "ABCA4_001980" "g.94512496C>T" "" "{PMID:Consugar 2015:25412400}" "" "c.2897C>T p.(Gly966Glu)" "" "Germline" "" "" "0" "" "" "g.94046940C>T" "" "likely pathogenic (recessive)" ""
"0000777953" "1" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Consugar 2015:25412400}" "" "c.[5882G>A; 4139C>T] p.[(Gly1961Glu; Pro1380Leu)]" "" "Germline" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000777954" "0" "70" "1" "94520705" "94520705" "subst" "0" "01695" "ABCA4_000714" "g.94520705T>C" "" "{PMID:Consugar 2015:25412400}" "" "c.2549A>G p.(Tyr850Cys)" "" "Germline" "" "" "0" "" "" "g.94055149T>C" "" "likely pathogenic (recessive)" ""
"0000777955" "1" "50" "1" "94496053" "94496053" "subst" "0.00437371" "01695" "ABCA4_000556" "g.94496053G>A" "" "{PMID:Consugar 2015:25412400}" "" "c.[6563T>C; 4283C>T] p.[(Phe2188Ser; Thr1428Met)]" "" "Germline" "" "" "0" "" "" "g.94030497G>A" "" "VUS" ""
"0000777956" "0" "50" "1" "94578589" "94578594" "del" "0" "01695" "ABCA4_000249" "g.94578589_94578594del" "" "{PMID:Consugar 2015:25412400}" "" "c.101_106delCTTTAT p.(Ser34_Leu35del)" "" "Germline" "" "" "0" "" "" "g.94113033_94113038del" "" "VUS" ""
"0000777957" "0" "90" "1" "94508353" "94508353" "subst" "2.8431E-5" "01695" "ABCA4_000141" "g.94508353G>A" "" "{PMID:Consugar 2015:25412400}" "" "c.3292C>T p.(Arg1098Cys)" "" "Germline" "" "" "0" "" "" "g.94042797G>A" "" "pathogenic (recessive)" ""
"0000777958" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Consugar 2015:25412400}" "" "c.5461-10T>C r.spl" "" "Germline" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000777959" "0" "50" "1" "94544909" "94544909" "subst" "4.06111E-6" "01695" "ABCA4_000081" "g.94544909T>A" "" "{PMID:Consugar 2015:25412400}" "" "c.1208A>T p.(Asp403Val)" "" "Germline" "" "" "0" "" "" "g.94079353T>A" "" "VUS" ""
"0000777960" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Consugar 2015:25412400}" "" "c.2588G>C p.(Gly863Ala)" "" "Germline" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000777961" "0" "90" "1" "94485137" "94485137" "subst" "0" "01695" "ABCA4_000464" "g.94485137C>T" "" "{PMID:Consugar 2015:25412400}" "" "c.5196+1G>A r.spl" "" "Germline" "" "" "0" "" "" "g.94019581C>T" "" "pathogenic (recessive)" ""
"0000777962" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Consugar 2015:25412400}" "" "c.5461-10T>C r. spl" "" "Germline" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000777963" "0" "70" "1" "94495177" "94495177" "subst" "1.22342E-5" "01695" "ABCA4_000023" "g.94495177A>G" "" "{PMID:Consugar 2015:25412400}" "" "c.4363T>C p.(Cys1455Arg)" "" "Germline" "" "" "0" "" "" "g.94029621A>G" "" "likely pathogenic (recessive)" ""
"0000777964" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Consugar 2015:25412400}" "" "c.5882G>A p.(Gly1961Glu)" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000777965" "2" "90" "1" "94528780" "94528780" "del" "0" "01695" "ABCA4_002098" "g.94528780del" "" "{PMID:Liu 2015:25611614}" "" "[1648del]" "" "Germline" "" "" "0" "" "" "g.94063224del" "" "pathogenic (recessive)" ""
"0000777966" "0" "10" "1" "94505604" "94505604" "subst" "0.00645586" "01695" "ABCA4_000092" "g.94505604A>C" "" "{PMID:van Huet 2015:25999674}" "" "c.3602T>G; p.Leu1201Arg c.6320G>A; p.Arg2107His" "" "Unknown" "" "" "0" "" "" "g.94040048A>C" "" "benign" ""
"0000777967" "0" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "" "{PMID:van Huet 2015:25999674}" "" "c.4469G>A; p.Cys1490Tyr" "" "Unknown" "" "" "0" "" "" "g.94029515C>T" "" "likely pathogenic (recessive)" ""
"0000777968" "0" "90" "1" "94463488" "94463488" "subst" "5.2803E-5" "01695" "ABCA4_000802" "g.94463488G>A" "" "{PMID:van Huet 2015:25999674}" "" "c.6658C>T; p.Gln2220*" "" "Unknown" "" "" "0" "" "" "g.93997932G>A" "" "pathogenic (recessive)" ""
"0000777969" "3" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:van Huet 2015:25999674}" "" "c.1622T>C; p.Leu541Pro c.3113C>T; p.Ala1038Val (both homozygously present)" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000777970" "0" "90" "1" "94528815" "94528815" "del" "0" "01695" "ABCA4_001551" "g.94528815del" "" "{PMID:Patel 2016:26355662}" "" "NM_000350.2:c.1615del; p.Leu539Serfs*29" "" "Unknown" "" "" "0" "" "" "g.94063259del" "" "pathogenic (recessive)" ""
"0000777971" "0" "50" "1" "94514477" "94514477" "subst" "0.00118992" "01695" "ABCA4_000700" "g.94514477G>A" "" "{PMID:Patel 2016:26355662}" "" "NM_000350.2:c.2690C>T; p.Thr897Ile" "" "Unknown" "" "" "0" "" "" "g.94048921G>A" "" "VUS" ""
"0000777972" "0" "70" "1" "94476428" "94476428" "subst" "0" "01695" "ABCA4_001546" "g.94476428G>C" "" "{PMID:Patel 2016:26355662}" "" "NM_000350.2:c.5642C>G; p.Ala1881Gly" "" "Unknown" "" "" "0" "" "" "g.94010872G>C" "" "likely pathogenic (recessive)" ""
"0000777973" "0" "70" "1" "94481296" "94481296" "subst" "4.07329E-6" "01695" "ABCA4_001532" "g.94481296C>T" "" "{PMID:Weisschuh 2016:26766544}" "" "c.5311G>A p.G1771R" "" "Unknown" "" "" "0" "" "" "g.94015740C>T" "" "likely pathogenic (recessive)" ""
"0000777974" "0" "90" "1" "94497564" "94497564" "subst" "1.64383E-5" "01695" "ABCA4_000091" "g.94497564G>A" "" "{PMID:Weisschuh 2016:26766544}" "" "c.3898C>T p.R1300*" "" "Unknown" "" "" "0" "" "" "g.94032008G>A" "" "pathogenic (recessive)" ""
"0000777975" "0" "70" "1" "94496548" "94496548" "subst" "2.43787E-5" "01695" "ABCA4_000088" "g.94496548G>A" "" "{PMID:Weisschuh 2016:26766544}" "" "c.4253+4C>T p.?" "" "Unknown" "" "" "0" "" "" "g.94030992G>A" "" "likely pathogenic (recessive)" ""
"0000777976" "0" "90" "1" "94528785" "94528785" "subst" "0" "01695" "ABCA4_001543" "g.94528785C>T" "" "{PMID:Weisschuh 2016:26766544}" "" "c.1643C>T p.W548*" "" "Unknown" "" "" "0" "" "" "g.94063229C>T" "" "pathogenic (recessive)" ""
"0000777977" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Ellingford 2016:27208204}" "" "ABCA4 c.4139C>T p.(Pro1380Leu) het" "" "Unknown" "yes" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000777978" "0" "90" "1" "94463488" "94463488" "subst" "5.2803E-5" "01695" "ABCA4_000802" "g.94463488G>A" "" "{PMID:Ellingford 2016:27208204}" "" "ABCA4 c.6658C>T p.(Gln2220Ter) het" "" "Unknown" "yes" "" "0" "" "" "g.93997932G>A" "" "pathogenic (recessive)" ""
"0000777979" "0" "90" "1" "94568687" "94568687" "subst" "1.62641E-5" "01695" "ABCA4_000024" "g.94568687G>A" "" "{PMID:Ellingford 2016:27208204}" "" "ABCA4 c.454C>T p.(Arg152Ter) het" "" "Unknown" "" "" "0" "" "" "g.94103131G>A" "" "pathogenic (recessive)" ""
"0000777980" "0" "70" "1" "94577135" "94577135" "subst" "2.43718E-5" "01695" "ABCA4_000240" "g.94577135C>T" "" "{PMID:Ellingford 2016:27208204}" "" "ABCA4 c.161G>A p.(Cys54Tyr) het" "" "Unknown" "" "" "0" "" "" "g.94111579C>T" "" "likely pathogenic (recessive)" ""
"0000777981" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Ellingford 2016:27208204}" "" "ABCA4 c.4139C>T p.(Pro1380Leu) het" "" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000777982" "0" "70" "1" "94471055" "94471055" "subst" "0.00035346" "01695" "ABCA4_000029" "g.94471055C>T" "" "{PMID:Ellingford 2016:27208204}" "" "ABCA4 c.6089G>A p.(Arg2030Gln) het" "" "Unknown" "" "" "0" "" "" "g.94005499C>T" "" "likely pathogenic (recessive)" ""
"0000777983" "0" "50" "1" "94544977" "94544977" "subst" "0.000544432" "01695" "ABCA4_000332" "g.94544977A>T" "" "{PMID:Ellingford 2016:27208204}" "" "ABCA4 c.1140T>A p.(Asn380Lys) het" "" "Unknown" "" "" "0" "" "" "g.94079421A>T" "" "VUS" ""
"0000777984" "0" "90" "1" "94486794" "94486794" "subst" "0" "01695" "ABCA4_000478" "g.94486794A>G" "" "{PMID:Ellingford 2016:27208204}" "" "ABCA4 c.5018+2T>C het" "" "Unknown" "yes" "" "0" "" "" "g.94021238A>G" "" "pathogenic (recessive)" ""
"0000777985" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Ellingford 2016:27208204}" "" "ABCA4 c.4139C>T p.(Pro1380Leu) het" "" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000777986" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Ellingford 2016:27208204}" "" "ABCA4 c.6079C>T p.(Leu2027Phe) het" "" "Unknown" "" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic (recessive)" ""
"0000777987" "0" "90" "1" "94528197" "94528197" "subst" "0" "01695" "ABCA4_001473" "g.94528197G>A" "" "{PMID:Ellingford 2016:27208204}" "" "ABCA4 c.1873C>T p.(Gln625Ter) het" "" "Unknown" "" "" "0" "" "" "g.94062641G>A" "" "pathogenic (recessive)" ""
"0000777988" "0" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "" "{PMID:Ellingford 2016:27208204}" "" "ABCA4 c.4469G>A p.(Cys1490Tyr) het" "" "Unknown" "" "" "0" "" "" "g.94029515C>T" "" "likely pathogenic (recessive)" ""
"0000777989" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Ellingford 2016:27208204}" "" "ABCA4 c.6079C>T p.(Leu2027Phe) het" "" "Unknown" "" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic (recessive)" ""
"0000777990" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Ellingford 2016:27208204}" "" "ABCA4 c.2588G>C p.(Gly863Ala) het" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000777991" "0" "70" "1" "94520688" "94520688" "subst" "0" "01695" "ABCA4_001517" "g.94520688A>T" "" "{PMID:Ellingford 2016:27208204}" "" "ABCA4 c.2566T>A p.(Tyr856Asn) het" "" "Unknown" "" "" "0" "" "" "g.94055132A>T" "" "likely pathogenic (recessive)" ""
"0000777992" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Tiwari 2016:27353947}" "" "NM_000350.2:c.1804C>T:p.Arg602Trp" "" "Unknown" "" "" "0" "" "" "g.94062710G>A" "" "pathogenic (recessive)" ""
"0000777993" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Tiwari 2016:27353947}" "" "NM_000350.2:c.5461–10T>C" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000777994" "21" "90" "1" "94526092" "94526092" "subst" "0" "01695" "ABCA4_000749" "g.94526092C>A" "" "{PMID:Tiwari 2016:27353947}" "" "NM_000350.2:c.2160+1G>T" "" "Unknown" "yes" "" "0" "" "" "g.94060536C>A" "" "pathogenic (recessive)" ""
"0000777995" "0" "50" "1" "94520853" "94520853" "subst" "8.14783E-6" "01695" "ABCA4_000729" "g.94520853C>T" "" "{PMID:Tiwari 2016:27353947}" "" "NM_000350.2:c.2401G>A:p.Ala801Thr" "" "Unknown" "" "" "0" "" "" "g.94055297C>T" "" "VUS" ""
"0000777996" "21" "90" "1" "94526212" "94526212" "subst" "1.22012E-5" "01695" "ABCA4_000075" "g.94526212G>A" "" "{PMID:Tiwari 2016:27353947}" "" "NM_000350.2:c.2041C>T:p.Arg681*" "" "Unknown" "yes" "" "0" "" "" "g.94060656G>A" "" "pathogenic (recessive)" ""
"0000777997" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Tiwari 2016:27353947}" "" "NM_000350.2:c.5882G>A:p.Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000777998" "0" "70" "1" "94471055" "94471055" "subst" "0.00035346" "01695" "ABCA4_000029" "g.94471055C>T" "" "{PMID:Zhang 2016:27596865}" "" "c.G6089A (p.R2030Q)" "" "Unknown" "" "" "0" "" "" "g.94005499C>T" "" "likely pathogenic (recessive)" ""
"0000777999" "0" "90" "1" "94492937" "94492937" "subst" "0" "01695" "ABCA4_000529" "g.94492937G>A" "" "{PMID:de Castro-Miró 2016:28005958}" "" "c.G6089A (p.R2030Q)" "" "Unknown" "" "" "0" "" "" "g.94027381G>A" "" "pathogenic (recessive)" ""
"0000778000" "0" "90" "1" "94526212" "94526212" "subst" "1.22012E-5" "01695" "ABCA4_000075" "g.94526212G>A" "" "{PMID:Carss 2017:28041643}" "" "ENST00000370225.3:c.2041C>T p.Arg681Ter 0/1" "" "Unknown" "" "" "0" "" "" "g.94060656G>A" "" "pathogenic (recessive)" ""
"0000778001" "0" "70" "1" "94528671" "94528671" "subst" "0" "01695" "ABCA4_001409" "g.94528671T>C" "" "{PMID:Carss 2017:28041643}" "" "ENST00000370225.3:c.1757A>G p.Asp586Gly 0/1" "" "Unknown" "" "" "0" "" "" "g.94063115T>C" "" "likely pathogenic (recessive)" ""
"0000778002" "0" "90" "1" "94528164" "94528164" "subst" "2.03336E-5" "01695" "ABCA4_000267" "g.94528164G>A" "" "{PMID:Carss 2017:28041643}" "" "ENST00000370225.3:c.1906C>T p.Gln636Ter 0/1" "" "Unknown" "" "" "0" "" "" "g.94062608G>A" "" "pathogenic (recessive)" ""
"0000778003" "0" "90" "1" "94528871" "94528871" "subst" "0" "01695" "ABCA4_001410" "g.94528871G>T" "" "{PMID:Carss 2017:28041643}" "" "ENST00000370225.3:c.1557C>A p.Cys519Ter 0/1" "" "Unknown" "" "" "0" "" "" "g.94063315G>T" "" "pathogenic (recessive)" ""
"0000778004" "0" "70" "1" "94508346" "94508346" "subst" "0" "01695" "ABCA4_000632" "g.94508346A>T" "" "{PMID:Carss 2017:28041643}" "" "ENST00000370225.3:c.3299T>A p.Ile1100Asn 0/1" "" "Unknown" "" "" "0" "" "" "g.94042790A>T" "" "likely pathogenic (recessive)" ""
"0000778005" "0" "90" "1" "94564406" "94564406" "subst" "0" "01695" "ABCA4_001413" "g.94564406G>A" "" "{PMID:Carss 2017:28041643}" "" "ENST00000370225.3:c.712C>T p.Gln238Ter 0/1" "" "Unknown" "" "" "0" "" "" "g.94098850G>A" "" "pathogenic (recessive)" ""
"0000778006" "0" "90" "1" "94508386" "94508386" "subst" "0" "01695" "ABCA4_000643" "g.94508386C>A" "" "{PMID:Carss 2017:28041643}" "" "ENST00000370225.3:c.3259G>T p.Glu1087Ter 0/1" "" "Unknown" "" "" "0" "" "" "g.94042830C>A" "" "pathogenic (recessive)" ""
"0000778007" "0" "70" "1" "94480178" "94480178" "subst" "2.43692E-5" "01695" "ABCA4_000005" "g.94480178G>T" "" "{PMID:Carss 2017:28041643}" "" "ENST00000370225.3:c.5381C>A p.Ala1794Asp 0/1" "" "Unknown" "" "" "0" "" "" "g.94014622G>T" "" "likely pathogenic (recessive)" ""
"0000778008" "0" "70" "1" "94496547" "94496547" "subst" "1.21904E-5" "01695" "ABCA4_000560" "g.94496547C>T" "" "{PMID:Carss 2017:28041643}" "" "ENST00000370225.3:c.4253+5G>A NA 0/1" "" "Unknown" "" "" "0" "" "" "g.94030991C>T" "" "likely pathogenic (recessive)" ""
"0000778009" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Carss 2017:28041643}" "" "ENST00000370225.3:c.5461-10T>C NA 0/1" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000778010" "0" "50" "1" "94520694" "94520694" "subst" "8.12414E-6" "01695" "ABCA4_000712" "g.94520694C>T" "" "{PMID:Carss 2017:28041643}" "" "ENST00000370225.3:c.2560G>A p.Ala854Thr 0/1" "" "Unknown" "" "" "0" "" "" "g.94055138C>T" "" "VUS" ""
"0000778011" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Carss 2017:28041643}" "" "ENST00000370225.3:c.1622T>C p.Leu541Pro 0/1" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000778012" "0" "50" "1" "94520694" "94520694" "subst" "8.12414E-6" "01695" "ABCA4_000712" "g.94520694C>T" "" "{PMID:Carss 2017:28041643}" "" "ENST00000370225.3:c.2560G>A p.Ala854Thr 0/1" "" "Unknown" "" "" "0" "" "" "g.94055138C>T" "" "VUS" ""
"0000778013" "0" "50" "1" "94487404" "94487404" "subst" "0.00244055" "01695" "ABCA4_000497" "g.94487404C>T" "" "{PMID:Carss 2017:28041643}" "" "ENST00000370225.3:c.4771G>A p.Gly1591Arg 0/1" "" "Unknown" "" "" "0" "" "" "g.94021848C>T" "" "VUS" ""
"0000778014" "0" "50" "1" "94487490" "94487490" "subst" "0.00122268" "01695" "ABCA4_000506" "g.94487490A>G" "" "{PMID:Carss 2017:28041643}" "" "ENST00000370225.3:c.4685T>C p.Ile1562Thr 0/1" "" "Unknown" "" "" "0" "" "" "g.94021934A>G" "" "VUS" ""
"0000778015" "0" "90" "1" "94495009" "94495009" "dup" "0" "01695" "ABCA4_000087" "g.94495009dup" "" "{PMID:Carss 2017:28041643}" "" "ENST00000370225.3:c.4537dupC p.Gln1513ProfsTer42 0/1" "" "Unknown" "" "" "0" "" "" "g.94029453dup" "" "pathogenic (recessive)" ""
"0000778016" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Carss 2017:28041643}" "" "ENST00000370225.3:c.4139C>T p.Pro1380Leu 0/1" "" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000778017" "0" "90" "1" "94526316" "94526316" "subst" "4.25152E-6" "01695" "ABCA4_000118" "g.94526316C>T" "" "{PMID:Carss 2017:28041643}" "" "ENST00000370225.3:c.1938-1G>A NA 0/1" "" "Unknown" "" "" "0" "" "" "g.94060760C>T" "" "pathogenic (recessive)" ""
"0000778018" "0" "70" "1" "94577073" "94577073" "subst" "0" "01695" "ABCA4_000231" "g.94577073A>C" "" "{PMID:Carss 2017:28041643}" "" "ENST00000370225.3:c.223T>G p.Cys75Gly 0/1" "" "Unknown" "" "" "0" "" "" "g.94111517A>C" "" "likely pathogenic (recessive)" ""
"0000778019" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Carss 2017:28041643}" "" "ENST00000370225.3:c.1622T>C p.Leu541Pro 0/1" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000778020" "0" "70" "1" "94546115" "94546115" "subst" "0" "01695" "ABCA4_000984" "g.94546115A>G" "" "{PMID:Carss 2017:28041643}" "" "ENST00000370225.3:c.1018T>C p.Tyr340His 0/1" "" "Unknown" "" "" "0" "" "" "g.94080559A>G" "" "likely pathogenic (recessive)" ""
"0000778021" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Carss 2017:28041643}" "" "ENST00000370225.3:c.768G>T c.768G>T(p.%3D) 0/1" "" "Unknown" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000778022" "0" "90" "1" "94508435" "94508436" "dup" "0" "01695" "ABCA4_000998" "g.94508435_94508436dup" "" "{PMID:Carss 2017:28041643}" "" "ENST00000370225.3:c.3210_3211dupGT p.Ser1071CysfsTer14 0/1" "" "Unknown" "" "" "0" "" "" "g.94042879_94042880dup" "" "pathogenic (recessive)" ""
"0000778023" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Carss 2017:28041643}" "" "ENST00000370225.3:c.2588G>C p.Gly863Ala 0/1" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000778024" "0" "70" "1" "94490567" "94490567" "subst" "5.68528E-5" "01695" "ABCA4_000026" "g.94490567G>A" "" "{PMID:Carss 2017:28041643}" "" "ENST00000370225.3:c.4577C>T p.Thr1526Met 0/1" "" "Unknown" "" "" "0" "" "" "g.94025011G>A" "" "likely pathogenic (recessive)" ""
"0000778025" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Carss 2017:28041643}" "" "ENST00000370225.3:c.5461-10T>C NA 0/1" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000778026" "0" "70" "1" "94496547" "94496547" "subst" "4.06345E-6" "01695" "ABCA4_000559" "g.94496547C>A" "" "{PMID:Carss 2017:28041643}" "" "ENST00000370225.3:c.4253+5G>T NA 0/1" "" "Unknown" "" "" "0" "" "" "g.94030991C>A" "" "likely pathogenic (recessive)" ""
"0000778027" "0" "70" "1" "94496017" "94496017" "subst" "4.06075E-6" "01695" "ABCA4_000130" "g.94496017A>G" "" "{PMID:Carss 2017:28041643}" "" "ENST00000370225.3:c.4319T>C p.Phe1440Ser 0/1" "" "Unknown" "" "" "0" "" "" "g.94030461A>G" "" "likely pathogenic (recessive)" ""
"0000778028" "0" "90" "1" "94496677" "94496677" "subst" "0" "01695" "ABCA4_001403" "g.94496677C>T" "" "{PMID:Carss 2017:28041643}" "" "ENST00000370225.3:c.4129-1G>A NA 0/1" "" "Unknown" "" "" "0" "" "" "g.94031121C>T" "" "pathogenic (recessive)" ""
"0000778029" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Carss 2017:28041643}" "" "ENST00000370225.3:c.2588G>C p.Gly863Ala 0/1" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000778030" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Carss 2017:28041643}" "" "ENST00000370225.3:c.1804C>T p.Arg602Trp 0/1" "" "Unknown" "" "" "0" "" "" "g.94062710G>A" "" "pathogenic (recessive)" ""
"0000778031" "0" "90" "1" "94495009" "94495009" "del" "0" "01695" "ABCA4_000534" "g.94495009del" "" "{PMID:Carss 2017:28041643}" "" "ENST00000370225.3:c.4537delC p.Gln1513ArgfsTer13 0/1" "" "Unknown" "" "" "0" "" "" "g.94029453del" "" "pathogenic (recessive)" ""
"0000778032" "0" "50" "1" "94511415" "94511415" "subst" "0" "01695" "ABCA4_001406" "g.94511415C>A" "" "{PMID:Carss 2017:28041643}" "" "ENST00000535735.1:c.2803G>T p.Gly935Trp 0/1" "" "Unknown" "" "" "0" "" "" "g.94045859C>A" "" "VUS" ""
"0000778033" "0" "90" "1" "0" "0" "" "0" "01695" "NPHS2_000000" "g.?" "" "{PMID:Carss 2017:28041643}" "" "deletion 1:94402743-94505682" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000778034" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Carss 2017:28041643}" "" "ENST00000370225.3:c.4139C>T p.Pro1380Leu 0/1" "" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000778035" "0" "10" "1" "94497563" "94497563" "subst" "0.00492504" "01695" "ABCA4_000090" "g.94497563C>T" "" "{PMID:Carss 2017:28041643}" "" "ENST00000370225.3:c.3899G>A p.Arg1300Gln 0/1" "" "Unknown" "" "" "0" "" "" "g.94032007C>T" "" "benign" ""
"0000778036" "0" "90" "1" "94510248" "94510248" "subst" "0.000544123" "01695" "ABCA4_000107" "g.94510248C>G" "" "{PMID:Carss 2017:28041643}" "" "ENST00000370225.3:c.2971G>C p.Gly991Arg 0/1" "" "Unknown" "" "" "0" "" "" "g.94044692C>G" "" "pathogenic (recessive)" ""
"0000778037" "0" "50" "1" "94544167" "94544167" "subst" "8.12269E-6" "01695" "ABCA4_000316" "g.94544167G>C" "" "{PMID:Carss 2017:28041643}" "" "ENST00000370225.3:c.1335C>G p.Ser445Arg 0/1" "" "Unknown" "" "" "0" "" "" "g.94078611G>C" "" "VUS" ""
"0000778038" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Carss 2017:28041643}" "" "ENST00000370225.3:c.5461-10T>C NA 0/1" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000778039" "0" "70" "1" "94495177" "94495177" "subst" "1.22342E-5" "01695" "ABCA4_000023" "g.94495177A>G" "" "{PMID:Carss 2017:28041643}" "" "ENST00000370225.3:c.4363T>C p.Cys1455Arg 0/1" "" "Unknown" "" "" "0" "" "" "g.94029621A>G" "" "likely pathogenic (recessive)" ""
"0000778040" "0" "50" "1" "94568675" "94568675" "subst" "0.00146249" "01695" "ABCA4_000210" "g.94568675T>C" "" "{PMID:Carss 2017:28041643}" "" "ENST00000370225.3:c.466A>G p.Ile156Val 0/1" "" "Unknown" "" "" "0" "" "" "g.94103119T>C" "" "VUS" ""
"0000778041" "0" "50" "1" "94526230" "94526230" "subst" "7.32136E-5" "01695" "ABCA4_000760" "g.94526230C>T" "" "{PMID:Carss 2017:28041643}" "" "ENST00000370225.3:c.2023G>A p.Val675Ile 0/1" "" "Unknown" "" "" "0" "" "" "g.94060674C>T" "" "VUS" ""
"0000778042" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Carss 2017:28041643}" "" "ENST00000370225.3:c.3113C>T p.Ala1038Val 0/1" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000778043" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Carss 2017:28041643}" "" "ENST00000370225.3:c.1622T>C p.Leu541Pro 0/1" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000778044" "0" "90" "1" "94528871" "94528871" "subst" "0" "01695" "ABCA4_001410" "g.94528871G>T" "" "{PMID:Carss 2017:28041643}" "" "ENST00000370225.3:c.1557C>A p.Cys519Ter 0/1" "" "Unknown" "" "" "0" "" "" "g.94063315G>T" "" "pathogenic (recessive)" ""
"0000778045" "0" "90" "1" "94528251" "94528251" "subst" "2.84824E-5" "01695" "ABCA4_000281" "g.94528251C>T" "" "{PMID:Carss 2017:28041643}" "" "ENST00000370225.3:c.1819G>A p.Gly607Arg 0/1" "" "Unknown" "" "" "0" "" "" "g.94062695C>T" "" "pathogenic (recessive)" ""
"0000778046" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Carss 2017:28041643}" "" "ENST00000370225.3:c.3113C>T p.Ala1038Val 0/1" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000778047" "0" "70" "1" "94528819" "94528819" "subst" "2.03128E-5" "01695" "ABCA4_000078" "g.94528819G>A" "" "{PMID:Carss 2017:28041643}" "" "ENST00000370225.3:c.1609C>T p.Arg537Cys 0/1" "" "Unknown" "" "" "0" "" "" "g.94063263G>A" "" "likely pathogenic (recessive)" ""
"0000778048" "0" "70" "1" "94546207" "94546207" "subst" "0.000101665" "01695" "ABCA4_000083" "g.94546207G>C" "" "{PMID:Carss 2017:28041643}" "" "ENST00000370225.3:c.926C>G p.Pro309Arg 0/1" "" "Unknown" "" "" "0" "" "" "g.94080651G>C" "" "likely pathogenic (recessive)" ""
"0000778049" "0" "90" "1" "94471056" "94471056" "subst" "2.84398E-5" "01695" "ABCA4_000050" "g.94471056G>A" "" "{PMID:Carss 2017:28041643}" "" "ENST00000370225.3:c.6088C>T p.Arg2030Ter 0/1" "" "Unknown" "" "" "0" "" "" "g.94005500G>A" "" "pathogenic (recessive)" ""
"0000778050" "0" "50" "1" "94543268" "94543268" "subst" "0.000778106" "01695" "ABCA4_000306" "g.94543268C>T" "" "{PMID:Carss 2017:28041643}" "" "ENST00000370225.3:c.1532G>A p.Arg511His 0/1" "" "Unknown" "" "" "0" "" "" "g.94077712C>T" "" "VUS" ""
"0000778051" "0" "50" "1" "94564460" "94564460" "subst" "8.1355E-6" "01695" "ABCA4_000056" "g.94564460G>A" "" "{PMID:Carss 2017:28041643}" "" "ENST00000370225.3:c.658C>T p.Arg220Cys 0/1" "" "Unknown" "" "" "0" "" "" "g.94098904G>A" "" "VUS" ""
"0000778052" "0" "90" "1" "94543426" "94543426" "del" "0" "01695" "ABCA4_000314" "g.94543426del" "" "{PMID:Bernardis 2016:28127548}" "" "c.1375delA" "" "Unknown" "" "" "0" "" "" "g.94077870del" "" "pathogenic (recessive)" ""
"0000778053" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Bernardis 2016:28127548}" "" "c.768G>T" "" "Unknown" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000778054" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Bernardis 2016:28127548}" "" "c.768G>T" "" "Unknown" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000778055" "0" "90" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Bernardis 2016:28127548}" "" "c.634C>T" "" "Unknown" "" "" "0" "" "" "g.94098928G>A" "" "pathogenic (recessive)" ""
"0000778056" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Bernardis 2016:28127548}" "" "c.1622T>C" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000778057" "0" "70" "1" "94522239" "94522239" "subst" "2.03305E-5" "01695" "ABCA4_000736" "g.94522239A>T" "" "{PMID:Bernardis 2016:28127548}" "" "c.2300T>A" "" "Unknown" "" "" "0" "" "" "g.94056683A>T" "" "likely pathogenic (recessive)" ""
"0000778058" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Bernardis 2016:28127548}" "" "c.5882G>A" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000778059" "0" "70" "1" "94522239" "94522239" "subst" "2.03305E-5" "01695" "ABCA4_000736" "g.94522239A>T" "" "{PMID:Bernardis 2016:28127548}" "" "c.2300T>A" "" "Unknown" "" "" "0" "" "" "g.94056683A>T" "" "likely pathogenic (recessive)" ""
"0000778060" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Bernardis 2016:28127548}" "" "c.4139C>T" "" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000778061" "0" "70" "1" "94520705" "94520705" "subst" "0" "01695" "ABCA4_000714" "g.94520705T>C" "" "{PMID:Bernardis 2016:28127548}" "" "c.2549A>G" "" "Unknown" "" "" "0" "" "" "g.94055149T>C" "" "likely pathogenic (recessive)" ""
"0000778062" "0" "70" "1" "94493000" "94493000" "subst" "0" "01695" "ABCA4_000015" "g.94493000C>T" "" "{PMID:Haer-Wigman 2017:28224992}" "" "c.4539+2001G>A r.(spl?)b" "" "Unknown" "" "" "0" "" "" "g.94027444C>T" "" "likely pathogenic (recessive)" ""
"0000778063" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Haer-Wigman 2017:28224992}" "" "c.5882G>A p.(Gly1961Glu)" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000778064" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Haer-Wigman 2017:28224992}" "" "c.5461-10T>C r.(spl?)" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000778065" "0" "90" "1" "94473278" "94473278" "del" "3.25908E-5" "01695" "ABCA4_000392" "g.94473278del" "" "{PMID:Haer-Wigman 2017:28224992}" "" "c.5917del p.(Val1973*)" "" "Unknown" "" "" "0" "" "" "g.94007722del" "" "pathogenic (recessive)" ""
"0000778066" "0" "70" "1" "94493000" "94493000" "subst" "0" "01695" "ABCA4_000015" "g.94493000C>T" "" "{PMID:Haer-Wigman 2017:28224992}" "" "c.4539+2001G>A r.(spl?)b" "" "Unknown" "" "" "0" "" "" "g.94027444C>T" "" "likely pathogenic (recessive)" ""
"0000778067" "0" "70" "1" "94493000" "94493000" "subst" "0" "01695" "ABCA4_000015" "g.94493000C>T" "" "{PMID:Haer-Wigman 2017:28224992}" "" "c.4539+2001G>A r.(spl?)b" "" "Unknown" "" "" "0" "" "" "g.94027444C>T" "" "likely pathogenic (recessive)" ""
"0000778068" "0" "70" "1" "94484001" "94484001" "subst" "0" "01695" "ABCA4_000016" "g.94484001C>T" "" "{PMID:Haer-Wigman 2017:28224992}" "" "c.5196+1137G>A r.(spl?)b" "" "Unknown" "" "" "0" "" "" "g.94018445C>T" "" "likely pathogenic (recessive)" ""
"0000778069" "0" "90" "1" "94495009" "94495009" "dup" "0" "01695" "ABCA4_000087" "g.94495009dup" "" "{PMID:Haer-Wigman 2017:28224992}" "" "c.4537dup p.(Gln1513fs)" "" "Unknown" "" "" "0" "" "" "g.94029453dup" "" "pathogenic (recessive)" ""
"0000778070" "0" "70" "1" "94564378" "94564378" "subst" "0" "01695" "ABCA4_000368" "g.94564378T>A" "" "{PMID:Huang 2017:28512305}" "" "c.740A>T,p.Asn247Ile" "" "Unknown" "" "" "0" "" "" "g.94098822T>A" "" "likely pathogenic (recessive)" ""
"0000778071" "0" "90" "1" "94543304" "94543304" "subst" "0" "01695" "ABCA4_001476" "g.94543304C>T" "" "{PMID:Huang 2017:28512305}" "" "c.1496G>A,p.Trp499*" "" "Unknown" "" "" "0" "" "" "g.94077748C>T" "" "pathogenic (recessive)" ""
"0000778072" "0" "50" "1" "94577132" "94577132" "subst" "0" "01695" "ABCA4_000239" "g.94577132T>C" "" "{PMID:Huang 2017:28512305}" "" "c.164A>G,p.His55Arg" "" "Unknown" "" "" "0" "" "" "g.94111576T>C" "" "VUS" ""
"0000778073" "0" "90" "1" "94512514" "94512514" "del" "0" "01695" "ABCA4_001442" "g.94512514del" "" "{PMID:Bryant 2017:29343940}" "" "c.2879del p.Ala960Aspfs*17" "" "Unknown" "" "" "0" "" "" "g.94046958del" "" "pathogenic (recessive)" ""
"0000778074" "0" "70" "1" "94490550" "94490550" "subst" "0.000105588" "01695" "ABCA4_000523" "g.94490550C>T" "" "{PMID:Bryant 2017:29343940}" "" "c.4594G.A p.Asp1532Asn" "" "Unknown" "" "" "0" "" "" "g.94024994C>T" "" "likely pathogenic (recessive)" ""
"0000778075" "0" "90" "1" "94488943" "94488943" "del" "0" "01695" "ABCA4_000513" "g.94488943del" "" "{PMID:Bryant 2017:29343940}" "" "c.4666del p.Arg1556Glyfs*25" "" "Unknown" "" "" "0" "" "" "g.94023387del" "" "pathogenic (recessive)" ""
"0000778076" "0" "90" "1" "94497477" "94497480" "del" "0" "01695" "ABCA4_001441" "g.94497477_94497480del" "" "{PMID:Bryant 2017:29343940}" "" "c.3984_3987del p.His1328Glnfs*60" "" "Unknown" "" "" "0" "" "" "g.94031921_94031924del" "" "pathogenic (recessive)" ""
"0000778077" "0" "50" "1" "94497428" "94497428" "subst" "1.22128E-5" "01695" "ABCA4_001489" "g.94497428T>C" "" "{PMID:Huang 2018:29641573}" "" "c.4034A>G (p.Asn1345Ser)" "" "Unknown" "" "" "0" "" "" "g.94031872T>C" "" "VUS" ""
"0000778078" "0" "50" "1" "94574258" "94574258" "subst" "0.00115728" "01695" "ABCA4_001132" "g.94574258T>A" "" "{PMID:Huang 2018:29641573}" "" "c.317A>T (p.Tyr106Phe)" "" "Unknown" "" "" "0" "" "" "g.94108702T>A" "" "VUS" ""
"0000778079" "0" "70" "1" "94480192" "94480192" "subst" "0" "01695" "ABCA4_001488" "g.94480192G>C" "" "{PMID:Huang 2018:29641573}" "" "c.5367C>G (p.Ser1789Arg)" "" "Unknown" "" "" "0" "" "" "g.94014636G>C" "" "likely pathogenic (recessive)" ""
"0000778080" "0" "90" "1" "94463554" "94463554" "subst" "0" "01695" "ABCA4_001485" "g.94463554G>A" "" "{PMID:Huang 2018:29641573}" "" "c.6592C>T (p.Gln2198*)" "" "Unknown" "" "" "0" "" "" "g.93997998G>A" "" "pathogenic (recessive)" ""
"0000778081" "0" "50" "1" "94578589" "94578594" "del" "0" "01695" "ABCA4_000249" "g.94578589_94578594del" "" "{PMID:Huang 2018:29641573}" "" "c.101_106delCTTTAT (P.Leu34_Tyr35del)" "" "Unknown" "" "" "0" "" "" "g.94113033_94113038del" "" "VUS" ""
"0000778082" "0" "70" "1" "94510265" "94510265" "subst" "0" "01695" "ABCA4_001491" "g.94510265C>A" "" "{PMID:Huang 2018:29641573}" "" "c.2954G>T (p.Gly985Val)" "" "Unknown" "" "" "0" "" "" "g.94044709C>A" "" "likely pathogenic (recessive)" ""
"0000778083" "0" "70" "1" "94564378" "94564378" "subst" "0" "01695" "ABCA4_000368" "g.94564378T>A" "" "{PMID:Huang 2018:29641573}" "" "c.740A>T (p.Asn247Ile) [29]" "" "Unknown" "" "" "0" "" "" "g.94098822T>A" "" "likely pathogenic (recessive)" ""
"0000778084" "0" "50" "1" "94510254" "94510254" "subst" "7.71517E-5" "01695" "ABCA4_001490" "g.94510254C>T" "" "{PMID:Huang 2018:29641573}" "" "c.2965G>A (p.Val989Ile)" "" "Unknown" "" "" "0" "" "" "g.94044698C>T" "" "VUS" ""
"0000778085" "0" "90" "1" "94463458" "94463458" "del" "0" "01695" "ABCA4_001566" "g.94463458del" "" "{PMID:Martin-Merida 2018:29847639}" "" "m2: ABCA4 Ex.48 c.6688del p.(Leu2230Serfs*17)" "" "Unknown" "" "" "0" "" "" "g.93997902del" "" "pathogenic (recessive)" ""
"0000778086" "11" "90" "1" "94463458" "94463458" "del" "0" "01695" "ABCA4_001566" "g.94463458del" "" "{PMID:Martin-Merida 2018:29847639}" "" "m2: ABCA4 Ex.48 c.6688del p.(Leu2230Serfs*17)" "" "Unknown" "" "" "0" "" "" "g.93997902del" "" "pathogenic (recessive)" ""
"0000778087" "0" "90" "1" "94546098" "94546098" "subst" "0" "01695" "ABCA4_000338" "g.94546098A>C" "" "{PMID:Wang 2018:30029497}" "" "NM_000350.2:c.1035T>G" "" "Unknown" "" "" "0" "" "" "g.94080542A>C" "" "pathogenic (recessive)" ""
"0000778088" "0" "90" "1" "94528868" "94528868" "del" "0" "01695" "ABCA4_000304" "g.94528868del" "" "{PMID:Wang 2018:30029497}" "" "NM_000350.2:c.1561del" "" "Unknown" "" "" "0" "" "" "g.94063312del" "" "pathogenic (recessive)" ""
"0000778089" "0" "50" "1" "94506935" "94506935" "subst" "4.06098E-6" "01695" "ABCA4_000626" "g.94506935G>A" "" "{PMID:Wang 2018:30029497}" "" "NM_000350.2:c.3352C>T" "" "Unknown" "" "" "0" "" "" "g.94041379G>A" "" "VUS" ""
"0000778090" "0" "90" "1" "94485137" "94485137" "subst" "0" "01695" "ABCA4_000464" "g.94485137C>T" "" "{PMID:Wang 2018:30029497}" "" "NM_000350.2:c.5196+1G>A" "" "Unknown" "" "" "0" "" "" "g.94019581C>T" "" "pathogenic (recessive)" ""
"0000778091" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Patel 2018:30054919}" "" "NM_000350.2:c.1804C>T; p.(Arg602Trp)" "" "Unknown" "" "" "0" "" "" "g.94062710G>A" "" "pathogenic (recessive)" ""
"0000778092" "0" "90" "1" "94473278" "94473278" "del" "3.25908E-5" "01695" "ABCA4_000392" "g.94473278del" "" "{PMID:Patel 2018:30054919}" "" "NM_000350.2:c.5917delG; p.(Val1973*)" "" "Unknown" "" "" "0" "" "" "g.94007722del" "" "pathogenic (recessive)" ""
"0000778093" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Ezquerra-Inchausti 2018:30337596}" "" "c.3386G>T p.Arg1129Leu" "" "Unknown" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000778094" "21" "70" "1" "94487505" "94487505" "subst" "4.06349E-6" "01695" "ABCA4_000507" "g.94487505T>C" "" "{PMID:Patel 2019:30653986}" "" "c.1648G>C; c.4670A>G" "" "Unknown" "yes" "" "0" "" "" "g.94021949T>C" "" "likely pathogenic (recessive)" ""
"0000778095" "11" "70" "1" "94490567" "94490567" "subst" "5.68528E-5" "01695" "ABCA4_000026" "g.94490567G>A" "" "{PMID:Patel 2019:30653986}" "" "c.4577C>T" "" "Unknown" "yes" "" "0" "" "" "g.94025011G>A" "" "likely pathogenic (recessive)" ""
"0000778096" "3" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Patel 2019:30653986}" "" "c.1622T>C" "" "Unknown" "yes" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000778097" "3" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Patel 2019:30653986}" "" "c.3113C>T" "" "Unknown" "yes" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000778098" "3" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Patel 2019:30653986}" "" "c.1622T>C" "" "Unknown" "yes" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000778099" "21" "90" "1" "94568687" "94568687" "subst" "1.62641E-5" "01695" "ABCA4_000024" "g.94568687G>A" "" "{PMID:Patel 2019:30653986}" "" "c.454G>A" "" "Unknown" "yes" "" "0" "" "" "g.94103131G>A" "" "pathogenic (recessive)" ""
"0000778100" "0" "90" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Jespersgaard 2019:30718709}" "" "c.2894A>G p.(Asn965Ser)" "" "Unknown" "" "" "0" "" "" "g.94046943T>C" "" "pathogenic (recessive)" ""
"0000778101" "0" "70" "1" "94506907" "94506907" "subst" "0" "01695" "ABCA4_000624" "g.94506907C>T" "" "{PMID:Jespersgaard 2019:30718709}" "" "c.3380G>A p.(Gly1127Glu) c.1654G>A p.(Val552Ile)" "" "Unknown" "" "" "0" "" "" "g.94041351C>T" "" "likely pathogenic (recessive)" ""
"0000778102" "0" "70" "1" "94467467" "94467467" "subst" "4.06164E-6" "01695" "ABCA4_000780" "g.94467467G>A" "" "{PMID:Jespersgaard 2019:30718709}" "" "c.6229C>T p.(Arg2077Trp)" "" "Unknown" "" "" "0" "" "" "g.94001911G>A" "" "likely pathogenic (recessive)" ""
"0000778103" "0" "50" "1" "94492935" "94492935" "subst" "0" "01695" "ABCA4_001798" "g.94492935G>C" "" "{PMID:Jespersgaard 2019:30718709}" "" "c.4539+2066C>G p.(?)" "" "Unknown" "" "" "0" "" "" "g.94027379G>C" "" "VUS" ""
"0000778104" "0" "90" "1" "94502746" "94502747" "dup" "0" "01695" "ABCA4_001874" "g.94502746_94502747dup" "" "{PMID:Jespersgaard 2019:30718709}" "" "c.3767_3768dup p.(Leu1257Thrfs*19)" "" "Unknown" "" "" "0" "" "" "g.94037190_94037191dup" "" "pathogenic (recessive)" ""
"0000778105" "0" "50" "1" "94496562" "94496562" "subst" "0" "01695" "ABCA4_000563" "g.94496562T>G" "" "{PMID:Jespersgaard 2019:30718709}" "" "c.4243A>C p.(Thr1415Pro)" "" "Unknown" "" "" "0" "" "" "g.94031006T>G" "" "VUS" ""
"0000778106" "0" "90" "1" "94466557" "94466557" "subst" "4.06154E-6" "01695" "ABCA4_000832" "g.94466557C>T" "" "{PMID:Jespersgaard 2019:30718709}" "" "c.6386+1G>A p.(?)" "" "Unknown" "" "" "0" "" "" "g.94001001C>T" "" "pathogenic (recessive)" ""
"0000778107" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Jespersgaard 2019:30718709}" "" "c.5461-10T>C p.(?)" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000778108" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Jespersgaard 2019:30718709}" "" "c.3113C>T p.(Ala1038Val)" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000778109" "0" "70" "1" "94484001" "94484001" "subst" "0" "01695" "ABCA4_000016" "g.94484001C>T" "" "{PMID:Jespersgaard 2019:30718709}" "" "c.5196+1137G>A p.(?)" "" "Unknown" "" "" "0" "" "" "g.94018445C>T" "" "likely pathogenic (recessive)" ""
"0000778110" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Jespersgaard 2019:30718709}" "" "c.5882G>A p.(Gly1961Glu) c.5882G>A p.(Gly1961Glu)" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000778111" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Jespersgaard 2019:30718709}" "" "c.3113C>T p.(Ala1038Val)" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000778112" "0" "70" "1" "94476812" "94476812" "subst" "0" "01695" "ABCA4_000048" "g.94476812A>G" "" "{PMID:Jespersgaard 2019:30718709}" "" "c.5584+6T>C p.(?)" "" "Unknown" "" "" "0" "" "" "g.94011256A>G" "" "likely pathogenic (recessive)" ""
"0000778113" "0" "70" "1" "94466393" "94466393" "subst" "0" "01695" "ABCA4_000816" "g.94466393T>C" "" "{PMID:Jespersgaard 2019:30718709}" "" "c.6478A>G p.(Lys2160Glu)" "" "Unknown" "" "" "0" "" "" "g.94000837T>C" "" "likely pathogenic (recessive)" ""
"0000778114" "0" "70" "1" "94484001" "94484001" "subst" "0" "01695" "ABCA4_000016" "g.94484001C>T" "" "{PMID:Jespersgaard 2019:30718709}" "" "c.5196+1137G>A p.(?)" "" "Unknown" "" "" "0" "" "" "g.94018445C>T" "" "likely pathogenic (recessive)" ""
"0000778115" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Jespersgaard 2019:30718709}" "" "c.3113C>T p.(Ala1038Val)" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000778116" "0" "70" "1" "94471046" "94471046" "subst" "0" "01695" "ABCA4_000793" "g.94471046A>C" "" "{PMID:Jespersgaard 2019:30718709}" "" "c.6098T>G p.(Leu2033Arg)" "" "Unknown" "" "" "0" "" "" "g.94005490A>C" "" "likely pathogenic (recessive)" ""
"0000778117" "0" "70" "1" "94484001" "94484001" "subst" "0" "01695" "ABCA4_000016" "g.94484001C>T" "" "{PMID:Jespersgaard 2019:30718709}" "" "c.5196+1137G>A p.(?)" "" "Unknown" "" "" "0" "" "" "g.94018445C>T" "" "likely pathogenic (recessive)" ""
"0000778118" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Jespersgaard 2019:30718709}" "" "c.5882G>A p.(Gly1961Glu)" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000778119" "0" "90" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Jespersgaard 2019:30718709}" "" "c.2894A>Gp.(Asn965Ser)" "" "Unknown" "" "" "0" "" "" "g.94046943T>C" "" "pathogenic (recessive)" ""
"0000778120" "0" "90" "1" "94458393" "94458796" "del" "0" "01695" "ABCA4_002590" "g.(?_94458393)_(94458796_94458799)del" "" "{PMID:Jespersgaard 2019:30718709}" "" "c.(6816+1_6817-1)_(*1_?)del#" "" "Unknown" "" "" "0" "" "" "g.(?_93992837)_93993240_93993243)del" "" "pathogenic (recessive)" ""
"0000778121" "0" "50" "1" "94487490" "94487490" "subst" "0.00122268" "01695" "ABCA4_000506" "g.94487490A>G" "" "{PMID:Jespersgaard 2019:30718709}" "" "c.4685T>C p.(Ile1562Thr)" "" "Unknown" "" "" "0" "" "" "g.94021934A>G" "" "VUS" ""
"0000778122" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Jespersgaard 2019:30718709}" "" "c.4139C>T p.(Pro1380Leu)" "" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000778123" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Jespersgaard 2019:30718709}" "" "c.3113C>T p.(Ala1038Val)" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000778124" "0" "70" "1" "94496583" "94496583" "subst" "2.03092E-5" "01695" "ABCA4_000190" "g.94496583A>G" "" "{PMID:Jespersgaard 2019:30718709}" "" "c.4222 T>C p.(Trp1408Arg) c.4679T>A p.(Ile1560Asn)#" "" "Unknown" "" "" "0" "" "" "g.94031027A>G" "" "likely pathogenic (recessive)" ""
"0000778125" "0" "90" "1" "94546248" "94546248" "del" "2.03666E-5" "01695" "ABCA4_000352" "g.94546248del" "" "{PMID:Jespersgaard 2019:30718709}" "" "c.885del p.(Leu296Cysfs*4)" "" "Unknown" "" "" "0" "" "" "g.94080692del" "" "pathogenic (recessive)" ""
"0000778126" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Jespersgaard 2019:30718709}" "" "c.768G>T p.(Val256Val)" "" "Unknown" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000778127" "0" "70" "1" "94484001" "94484001" "subst" "0" "01695" "ABCA4_000016" "g.94484001C>T" "" "{PMID:Jespersgaard 2019:30718709}" "" "c.5196+1137G>A p.(?)" "" "Unknown" "" "" "0" "" "" "g.94018445C>T" "" "likely pathogenic (recessive)" ""
"0000778128" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Jespersgaard 2019:30718709}" "" "c.3113C>T p.(Ala1038Val)" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000778129" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Jespersgaard 2019:30718709}" "" "c.3113C>T p.(Ala1038Val)" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000778130" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Jespersgaard 2019:30718709}" "" "c.5882G>A p.(Gly1961Glu)" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000778131" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Jespersgaard 2019:30718709}" "" "c.768G>T p.(Val256Val)" "" "Unknown" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000778132" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Jespersgaard 2019:30718709}" "" "c.1622T>C p.(Leu541Pro)" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000778133" "0" "70" "1" "94497393" "94497393" "subst" "2.04188E-5" "01695" "ABCA4_000578" "g.94497393C>T" "" "{PMID:Jespersgaard 2019:30718709}" "" "c.4069G>A p.(Ala1357Thr)" "" "Unknown" "" "" "0" "" "" "g.94031837C>T" "" "likely pathogenic (recessive)" ""
"0000778134" "0" "50" "1" "94506759" "94506759" "subst" "0" "01695" "ABCA4_001894" "g.94506759A>G" "" "{PMID:Jespersgaard 2019:30718709}" "" "c.3522+6T>C p.(?)#" "" "Unknown" "" "" "0" "" "" "g.94041203A>G" "" "VUS" ""
"0000778135" "0" "70" "1" "94487399" "94487399" "subst" "7.30959E-5" "01695" "ABCA4_000038" "g.94487399T>C" "" "{PMID:Jespersgaard 2019:30718709}" "" "c.4773+3A>G p.(?)" "" "Unknown" "" "" "0" "" "" "g.94021843T>C" "" "likely pathogenic (recessive)" ""
"0000778136" "3" "50" "1" "94544270" "94544270" "subst" "0" "01695" "ABCA4_002138" "g.94544270C>T" "" "{PMID:Jespersgaard 2019:30718709}" "" "c.1240-8G>A p.(?) c.1240-8G>A p.(?)" "" "Unknown" "" "" "0" "" "" "g.94078714C>T" "" "VUS" ""
"0000778137" "0" "90" "1" "94517226" "94517226" "subst" "0" "01695" "ABCA4_000705" "g.94517226G>C" "" "{PMID:Wang 2019:31106028}" "" "c.2616C>G p.(Tyr872*)" "" "Unknown" "" "" "0" "" "" "g.94051670G>C" "" "pathogenic (recessive)" ""
"0000778138" "0" "70" "1" "94508976" "94508976" "subst" "1.21906E-5" "01695" "ABCA4_000655" "g.94508976C>T" "" "{PMID:Wang 2019:31106028}" "" "c.3106C>T p.(Glu1036Lys)" "" "Unknown" "yes" "" "0" "" "" "g.94043420C>T" "" "likely pathogenic (recessive)" ""
"0000778139" "0" "90" "1" "94481407" "94481407" "del" "0" "01695" "ABCA4_001716" "g.94481407del" "" "{PMID:Wang 2019:31106028}" "" "c.5201del p.(Asn1734Ilefs*4)" "" "Unknown" "yes" "" "0" "" "" "g.94015851del" "" "pathogenic (recessive)" ""
"0000778140" "0" "90" "1" "94528866" "94528866" "del" "0" "01695" "ABCA4_002107" "g.94528866del" "" "{PMID:Wang 2019:31106028}" "" "c.1562del p.(Val521Serfs*47)" "" "Unknown" "yes" "" "0" "" "" "g.94063310del" "" "pathogenic (recessive)" ""
"0000778141" "0" "70" "1" "94506902" "94506902" "subst" "1.21834E-5" "01695" "ABCA4_000623" "g.94506902G>A" "" "{PMID:Wang 2019:31106028}" "" "c.3385C>T p.(Arg1129Cys)" "" "Unknown" "" "" "0" "" "" "g.94041346G>A" "" "likely pathogenic (recessive)" ""
"0000778142" "0" "70" "1" "94496588" "94496588" "subst" "0" "01695" "ABCA4_000567" "g.94496588T>C" "" "{PMID:Wang 2019:31106028}" "" "c.4217T>C p.(His1406Arg)" "" "Unknown" "" "" "0" "" "" "g.94031032T>C" "" "likely pathogenic (recessive)" ""
"0000778143" "0" "90" "1" "94528866" "94528866" "del" "0" "01695" "ABCA4_002107" "g.94528866del" "" "{PMID:Wang 2019:31106028}" "" "c.1562del p.(Val521Serfs*47)" "" "Unknown" "" "" "0" "" "" "g.94063310del" "" "pathogenic (recessive)" ""
"0000778144" "0" "70" "1" "94546150" "94546150" "subst" "4.06828E-6" "01695" "ABCA4_000346" "g.94546150T>A" "" "{PMID:Wang 2019:31106028}" "" "c.983T>A p.(Glu328Val)" "" "Unknown" "yes" "" "0" "" "" "g.94080594T>A" "" "likely pathogenic (recessive)" ""
"0000778145" "0" "70" "1" "94508976" "94508976" "subst" "1.21906E-5" "01695" "ABCA4_000655" "g.94508976C>T" "" "{PMID:Wang 2019:31106028}" "" "c.3106C>T p.(Glu1036Lys)" "" "Unknown" "yes" "" "0" "" "" "g.94043420C>T" "" "likely pathogenic (recessive)" ""
"0000778146" "0" "70" "1" "94577117" "94577117" "subst" "1.62472E-5" "01695" "ABCA4_000237" "g.94577117G>A" "" "{PMID:Wang 2019:31106028}" "" "c.179G>A p.(Ala60Val)" "" "Unknown" "" "" "0" "" "" "g.94111561G>A" "" "likely pathogenic (recessive)" ""
"0000778147" "0" "70" "1" "94508976" "94508976" "subst" "1.21906E-5" "01695" "ABCA4_000655" "g.94508976C>T" "" "{PMID:Wang 2019:31106028}" "" "c.3106C>T p.(Glu1036Lys)" "" "De novo" "" "" "0" "" "" "g.94043420C>T" "" "likely pathogenic (recessive)" ""
"0000778148" "0" "70" "1" "94546150" "94546150" "subst" "4.06828E-6" "01695" "ABCA4_000346" "g.94546150T>A" "" "{PMID:Wang 2019:31106028}" "" "c.983T>A p.(Glu328Val)" "" "Unknown" "yes" "" "0" "" "" "g.94080594T>A" "" "likely pathogenic (recessive)" ""
"0000778149" "0" "90" "1" "94463512" "94463513" "ins" "0" "01695" "ABCA4_001569" "g.94463512_94463513insCTGGAAGATCCTCGCCAGGGAGGAGGAG" "" "{PMID:Wang 2019:31106028}" "" "c.6633_6634insCTCCTCCTCCCTGGCGAGGATCTTCCAG p.(Ser2212Leufs*48)" "" "Unknown" "yes" "" "0" "" "" "g.93997956_93997957insCTGGAAGATCCTCGCCAGGGAGGAGGAG" "" "pathogenic (recessive)" ""
"0000778150" "0" "90" "1" "94568570" "94568570" "subst" "0" "01695" "ABCA4_000200" "g.94568570C>T" "" "{PMID:Wang 2019:31106028}" "" "c.570+1C>T p.?" "" "Unknown" "yes" "" "0" "" "" "g.94103014C>T" "" "pathogenic (recessive)" ""
"0000778151" "0" "70" "1" "94577072" "94577072" "subst" "0" "01695" "ABCA4_002226" "g.94577072C>T" "" "{PMID:Wang 2019:31106028}" "" "c.224C>T p.(Cys75Tyr)" "" "Unknown" "" "" "0" "" "" "g.94111516C>T" "" "likely pathogenic (recessive)" ""
"0000778152" "0" "70" "1" "94544209" "94544209" "subst" "0" "01695" "ABCA4_002132" "g.94544209C>G" "" "{PMID:Wang 2019:31106028}" "" "c.1293G>C p.(Trp431Cys)" "" "Unknown" "" "" "0" "" "" "g.94078653C>G" "" "likely pathogenic (recessive)" ""
"0000778153" "0" "90" "1" "94487401" "94487401" "subst" "0" "01695" "ABCA4_000495" "g.94487401C>A" "" "{PMID:Wang 2019:31106028}" "" "c.4773+1C>A p.?" "" "Unknown" "" "" "0" "" "" "g.94021845C>A" "" "pathogenic (recessive)" ""
"0000778154" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Wang 2019:31106028}" "" "c.1804G>A p.(Arg602Trp)" "" "Unknown" "yes" "" "0" "" "" "g.94062710G>A" "" "pathogenic (recessive)" ""
"0000778155" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Wang 2019:31106028}" "" "c.1804G>A p.(Arg602Trp)" "" "Unknown" "yes" "" "0" "" "" "g.94062710G>A" "" "pathogenic (recessive)" ""
"0000778156" "0" "70" "1" "94496588" "94496588" "subst" "0" "01695" "ABCA4_000567" "g.94496588T>C" "" "{PMID:Wang 2019:31106028}" "" "c.4217T>C p.(His1406Arg)" "" "Unknown" "yes" "" "0" "" "" "g.94031032T>C" "" "likely pathogenic (recessive)" ""
"0000778157" "0" "90" "1" "94528868" "94528868" "del" "0" "01695" "ABCA4_000304" "g.94528868del" "" "{PMID:Wang 2019:31106028}" "" "c.1561del p.(Val521Serfs*47)" "" "Unknown" "yes" "" "0" "" "" "g.94063312del" "" "pathogenic (recessive)" ""
"0000778158" "0" "70" "1" "94497393" "94497393" "subst" "2.04188E-5" "01695" "ABCA4_000578" "g.94497393C>T" "" "{PMID:Wang 2019:31106028}" "" "c.4069C>T p.(Ala1357Thr)" "" "Unknown" "" "" "0" "" "" "g.94031837C>T" "" "likely pathogenic (recessive)" ""
"0000778159" "0" "70" "1" "94490534" "94490534" "subst" "0.000125895" "01695" "ABCA4_000520" "g.94490534G>A" "" "{PMID:Xu 2020:31630094}" "" "p.T1537M" "" "Unknown" "yes" "" "0" "" "" "g.94024978G>A" "" "likely pathogenic (recessive)" ""
"0000778160" "0" "90" "1" "94495009" "94495009" "dup" "0" "01695" "ABCA4_000087" "g.94495009dup" "" "{PMID:Chen 2020:31872526}" "" "NM_000350:exon30:c.4537dupC:p.Q1513fs" "" "Unknown" "" "" "0" "" "" "g.94029453dup" "" "pathogenic (recessive)" ""
"0000778161" "0" "90" "1" "94497474" "94497474" "subst" "0" "01695" "ABCA4_000583" "g.94497474C>A" "" "{PMID:Rodríguez-Muños 2020:32036094}" "" "c.3988G>T; p.(Glu1330*)" "" "Unknown" "" "" "0" "" "" "g.94031918C>A" "" "pathogenic (recessive)" ""
"0000778162" "0" "90" "1" "94497474" "94497474" "subst" "0" "01695" "ABCA4_000583" "g.94497474C>A" "" "{PMID:Rodríguez-Muños 2020:32036094}" "" "c.3988G>T; p.(Glu1330*)" "" "Unknown" "" "" "0" "" "" "g.94031918C>A" "" "pathogenic (recessive)" ""
"0000778163" "0" "70" "1" "94496547" "94496547" "subst" "1.21904E-5" "01695" "ABCA4_000560" "g.94496547C>T" "" "{PMID:Rodríguez-Muños 2020:32036094}" "" "c.4253‡5G>A; p.?" "" "Unknown" "" "" "0" "" "" "g.94030991C>T" "" "likely pathogenic (recessive)" ""
"0000778164" "0" "90" "1" "94526212" "94526212" "subst" "1.22012E-5" "01695" "ABCA4_000075" "g.94526212G>A" "" "{PMID:Rodríguez-Muños 2020:32036094}" "" "c.2041C>T; p.(Arg681*)" "" "Unknown" "" "" "0" "" "" "g.94060656G>A" "" "pathogenic (recessive)" ""
"0000778165" "0" "70" "1" "94495083" "94495083" "subst" "0.000124542" "01695" "ABCA4_000542" "g.94495083G>A" "" "{PMID:Rodríguez-Muños 2020:32036094}" "" "c.4457C>T; p.(Pro1486Leu)" "" "Unknown" "" "" "0" "" "" "g.94029527G>A" "" "likely pathogenic (recessive)" ""
"0000778166" "0" "70" "1" "94508334" "94508334" "subst" "0" "01695" "ABCA4_001921" "g.94508334A>G" "" "{PMID:Rodríguez-Muños 2020:32036094}" "" "c.3311T>C; p.(Leu1104Pro)" "" "Unknown" "" "" "0" "" "" "g.94042778A>G" "" "likely pathogenic (recessive)" ""
"0000778167" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Rodríguez-Muños 2020:32036094}" "" "c.3386G>T; p.(Arg1129Leu); Deletion ex.16" "" "Unknown" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000778168" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Rodríguez-Muños 2020:32036094}" "" "c.1804C>T; p.(Arg602Trp)" "" "Unknown" "" "" "0" "" "" "g.94062710G>A" "" "pathogenic (recessive)" ""
"0000778169" "0" "70" "1" "94506940" "94506940" "subst" "0" "01695" "ABCA4_001907" "g.94506940G>A" "" "{PMID:Rodríguez-Muños 2020:32036094}" "" "c.3347C>T; p.(Ser1116Phe)" "" "Unknown" "" "" "0" "" "" "g.94041384G>A" "" "likely pathogenic (recessive)" ""
"0000778170" "0" "90" "1" "94476355" "94476355" "subst" "4.0626E-6" "01695" "ABCA4_001666" "g.94476355C>T" "" "{PMID:Rodríguez-Muños 2020:32036094}" "" "c.5714‡1G>A; p.?" "" "Unknown" "" "" "0" "" "" "g.94010799C>T" "" "pathogenic (recessive)" ""
"0000778171" "0" "70" "1" "94496548" "94496548" "subst" "2.43787E-5" "01695" "ABCA4_000088" "g.94496548G>A" "" "{PMID:Rodríguez-Muños 2020:32036094}" "" "c.4253‡4C>T; p.?" "" "Unknown" "" "" "0" "" "" "g.94030992G>A" "" "likely pathogenic (recessive)" ""
"0000778172" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Rodríguez-Muños 2020:32036094}" "" "c.5882G>A; p.(Gly1961Glu)" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000778173" "0" "90" "1" "94473278" "94473278" "del" "3.25908E-5" "01695" "ABCA4_000392" "g.94473278del" "" "{PMID:Rodríguez-Muños 2020:32036094}" "" "c.5917delG; p.(Val1973*)" "" "Unknown" "" "" "0" "" "" "g.94007722del" "" "pathogenic (recessive)" ""
"0000778174" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Rodríguez-Muños 2020:32036094}" "" "c.1622T>C; p.(Leu541Pro); c.3113C>T; p.(Ala1038Val)" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000778175" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Rodríguez-Muños 2020:32036094}" "" "c.5882G>A; p.(Gly1961Glu)" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000778176" "0" "90" "1" "94526212" "94526212" "subst" "1.22012E-5" "01695" "ABCA4_000075" "g.94526212G>A" "" "{PMID:Rodríguez-Muños 2020:32036094}" "" "c.2041C>T; p.(Arg681*)" "" "Unknown" "" "" "0" "" "" "g.94060656G>A" "" "pathogenic (recessive)" ""
"0000778177" "0" "70" "1" "94577114" "94577114" "subst" "0" "01695" "ABCA4_002233" "g.94577114A>G" "" "{PMID:Rodríguez-Muños 2020:32036094}" "" "c.182T>C; p.(Met61Thr)" "" "Unknown" "" "" "0" "" "" "g.94111558A>G" "" "likely pathogenic (recessive)" ""
"0000778178" "0" "70" "1" "94480241" "94480241" "subst" "7.71705E-5" "01695" "ABCA4_000446" "g.94480241G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "c.5318C>T/p.A1773V" "" "Unknown" "yes" "" "0" "" "" "g.94014685G>A" "" "likely pathogenic (recessive)" ""
"0000778179" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "c.5882G>A/p.G1961E" "" "Unknown" "yes" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000778180" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Weisschuh 2020:32531858}" "" "c.5461-10T>C/p.?" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000778181" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "c.3322C>T/p.R1108C" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000778182" "0" "70" "1" "94508451" "94508451" "subst" "0" "01695" "ABCA4_001942" "g.94508451C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "c.3194G>A/p.G1065D" "" "Unknown" "yes" "" "0" "" "" "g.94042895C>T" "" "likely pathogenic (recessive)" ""
"0000778183" "0" "50" "1" "94474381" "94474381" "subst" "1.21849E-5" "01695" "ABCA4_000410" "g.94474381C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "c.5861G>A/p.V1921M" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94008825C>T" "" "VUS" ""
"0000778184" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Weisschuh 2020:32531858}" "" "c.5603A>T/p.N1868I" "" "Unknown" "yes" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000778185" "0" "70" "1" "94474365" "94474365" "subst" "0" "01695" "ABCA4_001657" "g.94474365T>G" "" "{PMID:Weisschuh 2020:32531858}" "" "c.5777A>C/p.Q1926P" "" "Unknown" "yes" "" "0" "" "" "g.94008809T>G" "" "likely pathogenic (recessive)" ""
"0000778186" "0" "70" "1" "94467467" "94467467" "subst" "4.06164E-6" "01695" "ABCA4_000780" "g.94467467G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "c.6229C>T/p.R2077W" "" "Unknown" "yes" "" "0" "" "" "g.94001911G>A" "" "likely pathogenic (recessive)" ""
"0000778187" "0" "90" "1" "94505622" "94505623" "ins" "0" "01695" "ABCA4_001425" "g.94505622_94505623insAC" "" "{PMID:Weisschuh 2020:32531858}" "" "c.3583_3584insGT/ p.L1195Rfs*2" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94040066_94040067insAC" "" "pathogenic (recessive)" ""
"0000778188" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Weisschuh 2020:32531858}" "" "c.5603A>T/p.N1868I" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000778189" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Weisschuh 2020:32531858}" "" "c.5603A>T/p.N1868I" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000778190" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Weisschuh 2020:32531858}" "" "[c.1622T>C/p.L541P; c.3113C>T/p.A1038V]" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000778191" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "[c.1622T>C/p.L541P; c.3113C>T/p.A1038V]" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000778192" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "c.5882G>A/p.G1961E" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000778193" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "c.5882G>A/p.G1961E" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000778194" "0" "50" "1" "94517259" "94517261" "delins" "0" "01695" "ABCA4_002008" "g.94517259_94517261delinsCC" "" "{PMID:Weisschuh 2020:32531858}" "" "c.2588-7_2588-5delinsGG/p.?" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94051703_94051705delinsCC" "" "VUS" ""
"0000778195" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "c.5714+5G>A/p.?" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000778196" "0" "50" "1" "94496610" "94496610" "subst" "2.03128E-5" "01695" "ABCA4_000571" "g.94496610C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "c.4195G>A/p.E1399K" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94031054C>T" "" "VUS" ""
"0000778197" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Weisschuh 2020:32531858}" "" "c.768G>T/p.?" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000778198" "0" "70" "1" "94480241" "94480241" "subst" "7.71705E-5" "01695" "ABCA4_000446" "g.94480241G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "c.5318C>T/p.A1773V" "" "Unknown" "yes" "" "0" "" "" "g.94014685G>A" "" "likely pathogenic (recessive)" ""
"0000778199" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Weisschuh 2020:32531858}" "" "[c.1622T>C/p.L541P; c.3113C>T/p.A1038V]" "" "Unknown" "yes" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000778200" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "[c.1622T>C/p.L541P; c.3113C>T/p.A1038V]" "" "Unknown" "yes" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000778201" "0" "90" "1" "94528167" "94528167" "subst" "0" "01695" "ABCA4_000268" "g.94528167G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "c.1903C>T/p.Q635*" "" "Unknown" "yes" "" "0" "" "" "g.94062611G>A" "" "pathogenic (recessive)" ""
"0000778202" "0" "90" "1" "94496571" "94496571" "subst" "4.06174E-6" "01695" "ABCA4_000111" "g.94496571G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "c.4234C>T/p.Q1412*" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94031015G>A" "" "pathogenic (recessive)" ""
"0000778203" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "c.5882G>A/p.G1961E" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000778204" "0" "90" "1" "94564479" "94564479" "del" "0" "01695" "ABCA4_002186" "g.94564479del" "" "{PMID:Weisschuh 2020:32531858}" "" "c.639del/p.E2132fs*14" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94098923del" "" "pathogenic (recessive)" ""
"0000778205" "0" "90" "1" "94526186" "94526186" "del" "0" "01695" "ABCA4_000754" "g.94526186del" "" "{PMID:Weisschuh 2020:32531858}" "" "c.2069del/p.G691Vfs*6" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94060630del" "" "pathogenic (recessive)" ""
"0000778206" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Weisschuh 2020:32531858}" "" "[c.1622T>C/p.L541P; c.3113C>T/p.A1038V]" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000778207" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "[c.1622T>C/p.L541P; c.3113C>T/p.A1038V]" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000778208" "0" "50" "1" "94471025" "94471025" "subst" "0.00031698" "01695" "ABCA4_000096" "g.94471025C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "c.6119G>A/p.R2040Q" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94005469C>T" "" "VUS" ""
"0000778209" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Weisschuh 2020:32531858}" "" "[c.1622T>C/p.L541P; c.3113C>T/p.A1038V]" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000778210" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "[c.1622T>C/p.L541P; c.3113C>T/p.A1038V]" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000778211" "0" "90" "1" "94528132" "94528132" "subst" "4.06835E-6" "01695" "ABCA4_000773" "g.94528132C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "c.1937+1G>A/p.?" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94062576C>T" "" "pathogenic (recessive)" ""
"0000778212" "3" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "[c.1622T>C/p.L541P; c.3113C>T/p.A1038V]" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000778213" "0" "90" "1" "94496571" "94496571" "subst" "4.06174E-6" "01695" "ABCA4_000111" "g.94496571G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "c.4234C>T/p.Q1412*" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94031015G>A" "" "pathogenic (recessive)" ""
"0000778214" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Weisschuh 2020:32531858}" "" "c.5461-10T>C/p.?" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000778215" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "c.5882G>A/p.G1961E" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000778216" "3" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "[c.1622T>C/p.L541P; c.3113C>T/p.A1038V]" "" "Unknown" "yes" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000778217" "0" "70" "1" "94486895" "94486895" "subst" "3.24923E-5" "01695" "ABCA4_000484" "g.94486895C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "c.4919G>A/p.R1640Q" "" "Unknown" "yes" "" "0" "" "" "g.94021339C>T" "" "likely pathogenic (recessive)" ""
"0000778218" "0" "90" "1" "94497591" "94497591" "subst" "0" "01695" "ABCA4_000587" "g.94497591G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "c.3871C>T/p.Q1291*" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94032035G>A" "" "pathogenic (recessive)" ""
"0000778219" "0" "50" "1" "94496067" "94496067" "subst" "0" "01695" "ABCA4_001832" "g.94496067G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "c.4269C>T/p.?" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94030511G>A" "" "VUS" ""
"0000778220" "0" "90" "1" "94508384" "94508384" "subst" "0" "01695" "ABCA4_000641" "g.94508384T>G" "" "{PMID:Weisschuh 2020:32531858}" "" "c.3261A>C/p.E1087D" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94042828T>G" "" "pathogenic (recessive)" ""
"0000778221" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "c.5714+5G>A/p.?" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000778222" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Weisschuh 2020:32531858}" "" "c.768G>T/p.?" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000778223" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Weisschuh 2020:32531858}" "" "c.5461-10T>C/p.?" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000778224" "0" "70" "1" "94486895" "94486895" "subst" "3.24923E-5" "01695" "ABCA4_000484" "g.94486895C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "c.4919G>A/p.R1640Q" "" "Unknown" "yes" "" "0" "" "" "g.94021339C>T" "" "likely pathogenic (recessive)" ""
"0000778225" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Weisschuh 2020:32531858}" "" "c.5461-10T>C/p.?" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000778226" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "c.5882G>A/p.G1961E" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000778227" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Weisschuh 2020:32531858}" "" "[c.1622T>C/p.L541P; c.3113C>T/p.A1038V]" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000778228" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "[c.1622T>C/p.L541P; c.3113C>T/p.A1038V]" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000778229" "0" "70" "1" "94480241" "94480241" "subst" "7.71705E-5" "01695" "ABCA4_000446" "g.94480241G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "c.5318C>T/p.A1773V" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94014685G>A" "" "likely pathogenic (recessive)" ""
"0000778230" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Weisschuh 2020:32531858}" "" "c.2588G>C/p.G863A" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000778231" "0" "70" "1" "94502873" "94502875" "del" "0" "01695" "ABCA4_001881" "g.94502873_94502875del" "" "{PMID:Weisschuh 2020:32531858}" "" "c.3642_3644del/p.H1215del" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94037317_94037319del" "" "likely pathogenic (recessive)" ""
"0000778232" "0" "90" "1" "94546098" "94546111" "del" "0" "01695" "ABCA4_000022" "g.94546098_94546111del" "" "{PMID:Weisschuh 2020:32531858}" "" "c.1025_1038del/p.D342Gfs*6" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94080542_94080555del" "" "pathogenic (recessive)" ""
"0000778233" "0" "50" "1" "94564354" "94564354" "subst" "4.06171E-5" "01695" "ABCA4_001125" "g.94564354C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "c.764G>A/p.R255H" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94098798C>T" "" "VUS" ""
"0000778234" "0" "70" "1" "94510271" "94510271" "subst" "0" "01695" "ABCA4_000670" "g.94510271G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "c.2948C>T/p.T983I" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94044715G>A" "" "likely pathogenic (recessive)" ""
"0000778235" "0" "70" "1" "94577082" "94577082" "subst" "2.84315E-5" "01695" "ABCA4_000232" "g.94577082C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "c.214G>A/p.G72R" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94111526C>T" "" "likely pathogenic (recessive)" ""
"0000778236" "0" "70" "1" "94490534" "94490534" "subst" "0.000125895" "01695" "ABCA4_000520" "g.94490534G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "c.4610C>T/p.T1537M" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94024978G>A" "" "likely pathogenic (recessive)" ""
"0000778237" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "c.5882G>A/p.G1961E" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000778238" "0" "10" "1" "94505604" "94505604" "subst" "0.00645586" "01695" "ABCA4_000092" "g.94505604A>C" "" "{PMID:Weisschuh 2020:32531858}" "" "c.3602T>G/p.L1201R" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94040048A>C" "" "benign" ""
"0000778239" "0" "90" "1" "94467460" "94467461" "del" "0" "01695" "ABCA4_000778" "g.94467460_94467461del" "" "{PMID:Weisschuh 2020:32531858}" "" "c.6238_6239del/p.S2080Hfs*16" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94001904_94001905del" "" "pathogenic (recessive)" ""
"0000778240" "0" "90" "1" "94517231" "94517419" "del" "0" "01695" "ABCA4_002005" "g.94517231_94517419del" "" "{PMID:Weisschuh 2020:32531858}" "" "c.2588-161_2615del/p.?" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94051675_94051863del" "" "pathogenic (recessive)" ""
"0000778241" "0" "70" "1" "94495002" "94495002" "subst" "0" "01695" "ABCA4_000533" "g.94495002T>C" "" "{PMID:Weisschuh 2020:32531858}" "" "c.4538A>G/p.Q1513R" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94029446T>C" "" "likely pathogenic (recessive)" ""
"0000778242" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Weisschuh 2020:32531858}" "" "c.5461-10T>C/p.?" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000778243" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "c.5882G>A/p.G1961E" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000778244" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "c.5882G>A/p.G1961E" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000778245" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Weisschuh 2020:32531858}" "" "c.5603A>T/p.N1868I" "" "Unknown" "yes" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000778246" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "c.5882G>A/p.G1961E" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000778247" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Weisschuh 2020:32531858}" "" "c.5461-10T>C/p.?" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000778248" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Weisschuh 2020:32531858}" "" "c.2588G>C/p.G863A" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000778249" "0" "70" "1" "94471055" "94471055" "subst" "0.00035346" "01695" "ABCA4_000029" "g.94471055C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "c.6089G>A/p.R2030Q" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94005499C>T" "" "likely pathogenic (recessive)" ""
"0000778250" "0" "70" "1" "94528158" "94528158" "subst" "4.0665E-6" "01695" "ABCA4_002072" "g.94528158G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "c.1912C>T/p.P638S" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94062602G>A" "" "likely pathogenic (recessive)" ""
"0000778251" "0" "70" "1" "94466417" "94466417" "subst" "0" "01695" "ABCA4_001200" "g.94466417C>A" "" "{PMID:Weisschuh 2020:32531858}" "" "c.6454G>T/p.G2152C" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94000861C>A" "" "likely pathogenic (recessive)" ""
"0000778252" "0" "70" "1" "94508451" "94508451" "subst" "0" "01695" "ABCA4_001942" "g.94508451C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "c.3194G>A/p.G1065D" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94042895C>T" "" "likely pathogenic (recessive)" ""
"0000778253" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "c.5882G>A/p.G1961E" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000778254" "0" "70" "1" "94522245" "94522245" "subst" "0" "01695" "ABCA4_002044" "g.94522245C>G" "" "{PMID:Weisschuh 2020:32531858}" "" "c.2294G>C/p.S765T" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94056689C>G" "" "likely pathogenic (recessive)" ""
"0000778255" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "c.5882G>A/p.G1961E" "" "Unknown" "yes" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000778256" "0" "70" "1" "94466422" "94466422" "subst" "2.43651E-5" "01695" "ABCA4_000817" "g.94466422C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "c.6649G>A/p.C2150Y" "" "Unknown" "yes" "" "0" "" "" "g.94000866C>T" "" "likely pathogenic (recessive)" ""
"0000778257" "0" "70" "1" "94480230" "94480230" "subst" "6.09177E-5" "01695" "ABCA4_001053" "g.94480230T>A" "" "{PMID:Weisschuh 2020:32531858}" "" "c.5329A>T/p.M1777L" "" "Unknown" "yes" "" "0" "" "" "g.94014674T>A" "" "likely pathogenic (recessive)" ""
"0000778258" "0" "70" "1" "94512523" "94512523" "subst" "0" "01695" "ABCA4_000688" "g.94512523T>C" "" "{PMID:Weisschuh 2020:32531858}" "" "c.2870A>G/p.Q957R" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94046967T>C" "" "likely pathogenic (recessive)" ""
"0000778259" "0" "90" "1" "94526296" "94526296" "subst" "1.64555E-5" "01695" "ABCA4_000768" "g.94526296G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "c.1957C>T/p.R653C" "" "Unknown" "yes" "" "0" "" "" "g.94060740G>A" "" "pathogenic (recessive)" ""
"0000778260" "0" "70" "1" "94510271" "94510271" "subst" "0" "01695" "ABCA4_000670" "g.94510271G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "c.2948C>T/p.T983I" "" "Unknown" "yes" "" "0" "" "" "g.94044715G>A" "" "likely pathogenic (recessive)" ""
"0000778261" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Weisschuh 2020:32531858}" "" "[c.1622T>C/p.L541P; c.3113C>T/p.A1038V]" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000778262" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "[c.1622T>C/p.L541P; c.3113C>T/p.A1038V]" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000778263" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "[c.1622T>C/p.L541P; c.3113C>T/p.A1038V]" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000778264" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Weisschuh 2020:32531858}" "" "c.5603A>T/p.N1868I" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000778265" "0" "90" "1" "94528132" "94528132" "subst" "4.06835E-6" "01695" "ABCA4_000773" "g.94528132C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "c.1937+1G>A/p.?" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94062576C>T" "" "pathogenic (recessive)" ""
"0000778266" "0" "70" "1" "94568678" "94568678" "subst" "0" "01695" "ABCA4_002205" "g.94568678C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "c.463G>A/p.D155N" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94103122C>T" "" "likely pathogenic (recessive)" ""
"0000778267" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "c.5882G>A/p.G1961E" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000778268" "0" "70" "1" "94502873" "94502875" "del" "0" "01695" "ABCA4_001881" "g.94502873_94502875del" "" "{PMID:Weisschuh 2020:32531858}" "" "c.3642_3644del/p.H1215del" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94037317_94037319del" "" "likely pathogenic (recessive)" ""
"0000778269" "0" "70" "1" "94481409" "94481409" "subst" "2.47317E-5" "01695" "ABCA4_001717" "g.94481409A>G" "" "{PMID:Weisschuh 2020:32531858}" "" "c.5198T>C/p.M1733T" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94015853A>G" "" "likely pathogenic (recessive)" ""
"0000778270" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "c.5714+5G>A/p.?" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000778271" "0" "90" "1" "94487258" "94487258" "dup" "0" "01695" "ABCA4_001264" "g.94487258dup" "" "{PMID:Weisschuh 2020:32531858}" "" "c.4786dup/p.R1596Kfs*5" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94021702dup" "" "pathogenic (recessive)" ""
"0000778272" "0" "70" "1" "94473259" "94473259" "subst" "0" "01695" "ABCA4_001045" "g.94473259G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "c.5936C>T/p.T1979I" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94007703G>A" "" "likely pathogenic (recessive)" ""
"0000778273" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "c.5882G>A/p.G1961E" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000778274" "0" "90" "1" "94528167" "94528167" "subst" "0" "01695" "ABCA4_000268" "g.94528167G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "c.1903C>T/p.Q635*" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94062611G>A" "" "pathogenic (recessive)" ""
"0000778275" "0" "90" "1" "94497334" "94497334" "subst" "0" "01695" "ABCA4_001076" "g.94497334C>G" "" "{PMID:Weisschuh 2020:32531858}" "" "c.4128G>C/p.Q1376H" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94031778C>G" "" "pathogenic (recessive)" ""
"0000778276" "0" "70" "1" "94520698" "94520698" "del" "0" "01695" "ABCA4_002019" "g.94520698del" "" "{PMID:Weisschuh 2020:32531858}" "" "c.2556del/p.L853Ffs*49" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94055142del" "" "likely pathogenic (recessive)" ""
"0000778277" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "[c.1622T>C/p.L541P; c.3113C>T/p.A1038V]" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000778278" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "c.5882G>A/p.G1961E" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000778279" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "c.5714+5G>A/p.?" "" "Unknown" "yes" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000778280" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "c.5882G>A/p.G1961E" "" "Unknown" "yes" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000778281" "0" "90" "1" "94487195" "94487195" "subst" "0" "01695" "ABCA4_001454" "g.94487195C>A" "" "{PMID:Weisschuh 2020:32531858}" "" "c.2005_2006del/p.M669Dfs*96" "" "Unknown" "yes" "" "0" "" "" "g.94021639C>A" "" "pathogenic (recessive)" ""
"0000778282" "0" "70" "1" "94471055" "94471055" "subst" "0.00035346" "01695" "ABCA4_000029" "g.94471055C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "c.6089G>A/p.R2030Q" "" "Unknown" "yes" "" "0" "" "" "g.94005499C>T" "" "likely pathogenic (recessive)" ""
"0000778283" "0" "70" "1" "94481296" "94481296" "subst" "4.07329E-6" "01695" "ABCA4_001532" "g.94481296C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "c.5311G>A/p.G1771R" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94015740C>T" "" "likely pathogenic (recessive)" ""
"0000778284" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Weisschuh 2020:32531858}" "" "c.5603A>T/p.N1868I" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000778285" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "c.5882G>A/p.G1961E" "" "Unknown" "yes" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000778286" "0" "70" "1" "94546177" "94546177" "subst" "0" "01695" "ABCA4_001047" "g.94546177A>C" "" "{PMID:Weisschuh 2020:32531858}" "" "c.956T>G/p.L319R" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94080621A>C" "" "likely pathogenic (recessive)" ""
"0000778287" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Weisschuh 2020:32531858}" "" "c.5603A>T/p.N1868I" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000778288" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Weisschuh 2020:32531858}" "" "c.5603A>T/p.N1868I" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000778289" "0" "70" "1" "94486896" "94486896" "subst" "3.65562E-5" "01695" "ABCA4_000085" "g.94486896G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "c.4918C>T/p.R1640W" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94021340G>A" "" "likely pathogenic (recessive)" ""
"0000778290" "0" "70" "1" "94546099" "94546099" "subst" "0" "01695" "ABCA4_001389" "g.94546099T>C" "" "{PMID:Weisschuh 2020:32531858}" "" "c.1034A>G/p.Y345C" "" "Unknown" "yes" "" "0" "" "" "g.94080543T>C" "" "likely pathogenic (recessive)" ""
"0000778291" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Weisschuh 2020:32531858}" "" "[c.2588G>C/p.G863A; c.2828G>A/p.R943Q]" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000778292" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "[c.1622T>C/p.L541P; c.3113C>T/p.A1038V]" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000778293" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "c.5714+5G>A/p.?" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000778294" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "c.5882G>A/p.G1961E" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000778295" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Weisschuh 2020:32531858}" "" "c.5461-10T>C/p.?" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000778296" "1" "70" "1" "94496509" "94496509" "subst" "0.00475243" "01695" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "[c.4253+43G>A/p.?; c.5603A>T/p.N1868I]" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94030953C>T" "" "likely pathogenic (recessive)" ""
"0000778297" "1" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Weisschuh 2020:32531858}" "" "[c.4253+43G>A/p.?; c.5603A>T/p.N1868I]" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000778298" "0" "90" "1" "94508353" "94508353" "subst" "2.8431E-5" "01695" "ABCA4_000141" "g.94508353G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "c.3292C>T/p.R1098C" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94042797G>A" "" "pathogenic (recessive)" ""
"0000778299" "0" "90" "1" "94488956" "94488956" "subst" "0" "01695" "ABCA4_000515" "g.94488956C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "c.4653G>A/p.W1551*" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94023400C>T" "" "pathogenic (recessive)" ""
"0000778300" "0" "90" "1" "94476882" "94476882" "subst" "0" "01695" "ABCA4_001686" "g.94476882G>T" "" "{PMID:Weisschuh 2020:32531858}" "" "c.5520C>A/p.C1840*" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94011326G>T" "" "pathogenic (recessive)" ""
"0000778301" "0" "90" "1" "94568625" "94568625" "dup" "0" "01695" "ABCA4_002201" "g.94568625dup" "" "{PMID:Weisschuh 2020:32531858}" "" "c.517dup/p.T1726Dfs*61" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94103069dup" "" "pathogenic (recessive)" ""
"0000778302" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "[c.1622T>C/p.L541P; c.3113C>T/p.A1038V]" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000778303" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "c.5882G>A/p.G1961E" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000778304" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "[c.1622T>C/p.L541P; c.3113C>T/p.A1038V]" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000778305" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "c.5882G>A/p.G1961E" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000778306" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "[c.1622T>C/p.L541P; c.3113C>T/p.A1038V]" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000778307" "0" "70" "1" "94476812" "94476812" "subst" "0" "01695" "ABCA4_000048" "g.94476812A>G" "" "{PMID:Weisschuh 2020:32531858}" "" "c.5584+6T>C/p.?" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94011256A>G" "" "likely pathogenic (recessive)" ""
"0000778308" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "c.5714+5G>A/p.?" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000778309" "0" "90" "1" "94495009" "94495009" "dup" "0" "01695" "ABCA4_000087" "g.94495009dup" "" "{PMID:Weisschuh 2020:32531858}" "" "c.4537dup/p.Q1513Pfs*42" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94029453dup" "" "pathogenic (recessive)" ""
"0000778310" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "[c.1622T>C/p.L541P; c.3113C>T/p.A1038V]" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000778311" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Weisschuh 2020:32531858}" "" "c.2588G>C/p.G863A" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000778312" "0" "70" "1" "94476865" "94476865" "subst" "2.03107E-5" "01695" "ABCA4_000430" "g.94476865A>G" "" "{PMID:Weisschuh 2020:32531858}" "" "c.5537T>C/p.I1846T" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94011309A>G" "" "likely pathogenic (recessive)" ""
"0000778313" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "c.5882G>A/p.G1961E" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000778314" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Weisschuh 2020:32531858}" "" "c.2588G>C/p.G863A" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000778315" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Weisschuh 2020:32531858}" "" "c.5603A>T/p.N1868I" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000778316" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Weisschuh 2020:32531858}" "" "c.5603A>T/p.N1868I" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000778317" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "[c.1622T>C/p.L541P; c.3113C>T/p.A1038V]" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000778318" "0" "90" "1" "94508353" "94508353" "subst" "2.8431E-5" "01695" "ABCA4_000141" "g.94508353G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "c.3292C>T/p.R1098C" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94042797G>A" "" "pathogenic (recessive)" ""
"0000778319" "0" "90" "1" "94492937" "94492937" "subst" "0" "01695" "ABCA4_000529" "g.94492937G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "c.4539+2064C>T/p.?" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94027381G>A" "" "pathogenic (recessive)" ""
"0000778320" "0" "90" "1" "94473189" "94473189" "subst" "0" "01695" "ABCA4_000385" "g.94473189C>A" "" "{PMID:Weisschuh 2020:32531858}" "" "c.6005+1G>T/p.?" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94007633C>A" "" "pathogenic (recessive)" ""
"0000778321" "0" "50" "1" "94467548" "94467548" "subst" "0.00295661" "01695" "ABCA4_000788" "g.94467548C>G" "" "{PMID:Weisschuh 2020:32531858}" "" "c.6148G>C/p.V2050L" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94001992C>G" "" "VUS" ""
"0000778322" "0" "70" "1" "94474389" "94474389" "subst" "0" "01695" "ABCA4_001493" "g.94474389T>A" "" "{PMID:Weisschuh 2020:32531858}" "" "c.5753A>T/p.D1918V" "" "Unknown" "yes" "" "0" "" "" "g.94008833T>A" "" "likely pathogenic (recessive)" ""
"0000778323" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Weisschuh 2020:32531858}" "" "c.5603A>T/p.N1868I" "" "Unknown" "yes" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000778324" "0" "70" "1" "94473286" "94473288" "dup" "0" "01695" "ABCA4_001640" "g.94473286_94473288dup" "" "{PMID:Weisschuh 2020:32531858}" "" "c.5910_5912dup/p.L1971dup" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94007730_94007732dup" "" "likely pathogenic (recessive)" ""
"0000778325" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Weisschuh 2020:32531858}" "" "c.2588G>C/p.G863A" "" "Unknown" "yes" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000778326" "0" "90" "1" "94473278" "94473278" "del" "3.25908E-5" "01695" "ABCA4_000392" "g.94473278del" "" "{PMID:Weisschuh 2020:32531858}" "" "c.5917del/p.V1973*" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94007722del" "" "pathogenic (recessive)" ""
"0000778327" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Weisschuh 2020:32531858}" "" "c.5461-10T>C/p.?" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000778328" "0" "70" "1" "94508340" "94508340" "subst" "4.06171E-6" "01695" "ABCA4_000630" "g.94508340T>A" "" "{PMID:Weisschuh 2020:32531858}" "" "c.3305A>T/p.D1102V" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94042784T>A" "" "likely pathogenic (recessive)" ""
"0000778329" "0" "90" "1" "94508384" "94508384" "subst" "0" "01695" "ABCA4_000641" "g.94508384T>G" "" "{PMID:Weisschuh 2020:32531858}" "" "c.3261A>C/p.E1087D" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94042828T>G" "" "pathogenic (recessive)" ""
"0000778330" "0" "70" "1" "94528248" "94528248" "subst" "1.22148E-5" "01695" "ABCA4_000279" "g.94528248A>T" "" "{PMID:Weisschuh 2020:32531858}" "" "c.1822T>A/p.F608I" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94062692A>T" "" "likely pathogenic (recessive)" ""
"0000778331" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Weisschuh 2020:32531858}" "" "c.2588G>C/p.G863A" "" "Unknown" "yes" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000778332" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Weisschuh 2020:32531858}" "" "c.2588G>C/p.G863A" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000778333" "0" "90" "1" "94514436" "94514437" "del" "0" "01695" "ABCA4_001994" "g.94514436_94514437del" "" "{PMID:Weisschuh 2020:32531858}" "" "c.2731_2732del/p.E911Rfs*8" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94048880_94048881del" "" "pathogenic (recessive)" ""
"0000778334" "0" "90" "1" "94496571" "94496571" "subst" "4.06174E-6" "01695" "ABCA4_000111" "g.94496571G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "c.4234C>T/p.Q1412*" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94031015G>A" "" "pathogenic (recessive)" ""
"0000778335" "0" "70" "1" "94495077" "94495077" "subst" "0" "01695" "ABCA4_000184" "g.94495077C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "c.4463G>A/p.C1488Y" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94029521C>T" "" "likely pathogenic (recessive)" ""
"0000778336" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "c.3322C>T/p.R1108C" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000778337" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "c.5882G>A/p.G1961E" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000778338" "0" "90" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "c.634C>T/p.R212C" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94098928G>A" "" "pathogenic (recessive)" ""
"0000778339" "0" "70" "1" "94467467" "94467467" "subst" "4.06164E-6" "01695" "ABCA4_000780" "g.94467467G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "c.6229C>T/p.R2077W" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94001911G>A" "" "likely pathogenic (recessive)" ""
"0000778340" "0" "90" "1" "94517216" "94517216" "subst" "0" "01695" "ABCA4_001429" "g.94517216G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "c.2626C>T/p.Q876*" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94051660G>A" "" "pathogenic (recessive)" ""
"0000778341" "0" "70" "1" "94512566" "94512566" "subst" "7.31149E-5" "01695" "ABCA4_000693" "g.94512566G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "c.2827C>T/p.R943W" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94047010G>A" "" "likely pathogenic (recessive)" ""
"0000778342" "0" "70" "1" "94512523" "94512523" "subst" "0" "01695" "ABCA4_000688" "g.94512523T>C" "" "{PMID:Weisschuh 2020:32531858}" "" "c.2870A>G/p.Q957R" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94046967T>C" "" "likely pathogenic (recessive)" ""
"0000778343" "0" "90" "1" "94461663" "94461663" "subst" "0" "01695" "ABCA4_001558" "g.94461663A>T" "" "{PMID:Weisschuh 2020:32531858}" "" "c.6816+2T>A/p.?" "" "Unknown" "yes" "" "0" "" "" "g.93996107A>T" "" "pathogenic (recessive)" ""
"0000778344" "0" "90" "1" "94490606" "94490606" "subst" "4.06091E-6" "01695" "ABCA4_000086" "g.94490606T>C" "" "{PMID:Weisschuh 2020:32531858}" "" "c.4540-2A>G/p.?" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94025050T>C" "" "pathogenic (recessive)" ""
"0000778345" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "c.6079C>T/p.L2027F" "" "Unknown" "yes" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic (recessive)" ""
"0000778346" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Weisschuh 2020:32531858}" "" "[c.1622T>C/p.L541P; c.3113C>T/p.A1038V]" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000778347" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "[c.1622T>C/p.L541P; c.3113C>T/p.A1038V]" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000778348" "0" "90" "1" "94526247" "94526248" "del" "0" "01695" "ABCA4_000761" "g.94526247_94526248del" "" "{PMID:Weisschuh 2020:32531858}" "" "c.2005_2006del/p.M669Dfs*96" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94060691_94060692del" "" "pathogenic (recessive)" ""
"0000778349" "0" "90" "1" "94473278" "94473278" "del" "3.25908E-5" "01695" "ABCA4_000392" "g.94473278del" "" "{PMID:Weisschuh 2020:32531858}" "" "c.5917del/p.V1973*" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94007722del" "" "pathogenic (recessive)" ""
"0000778350" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Weisschuh 2020:32531858}" "" "[c.1622T>C/p.L541P; c.3113C>T/p.A1038V]" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000778351" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "[c.1622T>C/p.L541P; c.3113C>T/p.A1038V]" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000778352" "0" "50" "1" "94480221" "94480221" "subst" "0.000109654" "01695" "ABCA4_000176" "g.94480221G>C" "" "{PMID:Weisschuh 2020:32531858}" "" "c.5338C>G/p.P1780A" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94014665G>C" "" "VUS" ""
"0000778353" "0" "70" "1" "94490546" "94490546" "subst" "0" "01695" "ABCA4_001785" "g.94490546A>G" "" "{PMID:Weisschuh 2020:32531858}" "" "c.4598T>C/p.F1533S" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94024990A>G" "" "likely pathogenic (recessive)" ""
"0000778354" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Weisschuh 2020:32531858}" "" "c.5603A>T/p.N1868I" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000778355" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Weisschuh 2020:32531858}" "" "c.5603A>T/p.N1868I" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000778356" "0" "70" "1" "94522248" "94522248" "subst" "0" "01695" "ABCA4_000741" "g.94522248C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "c.2291G>A/p.C764Y" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94056692C>T" "" "likely pathogenic (recessive)" ""
"0000778357" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "c.5714+5G>A/p.?" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000778358" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Weisschuh 2020:32531858}" "" "c.5603A>T/p.N1868I" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000778359" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "c.5714+5G>A/p.?" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000778360" "0" "70" "1" "94476875" "94476875" "subst" "1.62489E-5" "01695" "ABCA4_001280" "g.94476875G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "c.5527C>T/p.R1843W" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94011319G>A" "" "likely pathogenic (recessive)" ""
"0000778361" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Weisschuh 2020:32531858}" "" "c.2588G>C/p.G863A" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000778362" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "[c.1622T>C/p.L541P; c.3113C>T/p.A1038V]" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000778363" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "c.5714+5G>A/p.?" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000778364" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Weisschuh 2020:32531858}" "" "c.5603A>T/p.N1868I" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000778365" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Weisschuh 2020:32531858}" "" "c.2588G>C/p.G863A" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000778366" "0" "70" "1" "94471067" "94471067" "subst" "4.06237E-6" "01695" "ABCA4_001001" "g.94471067A>G" "" "{PMID:Weisschuh 2020:32531858}" "" "c.6077T>C/p.L2026P" "" "Unknown" "yes" "" "0" "" "" "g.94005511A>G" "" "likely pathogenic (recessive)" ""
"0000778367" "0" "50" "1" "94487490" "94487490" "subst" "0.00122268" "01695" "ABCA4_000506" "g.94487490A>G" "" "{PMID:Weisschuh 2020:32531858}" "" "c.4685T>C/p.I1562T" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94021934A>G" "" "VUS" ""
"0000778368" "0" "90" "1" "94526296" "94526296" "subst" "1.64555E-5" "01695" "ABCA4_000768" "g.94526296G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "c.1957C>T/p.R653C" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94060740G>A" "" "pathogenic (recessive)" ""
"0000778369" "0" "70" "1" "94506805" "94506805" "subst" "2.03051E-5" "01695" "ABCA4_001294" "g.94506805C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "c.3482G>A/p.R1161H" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94041249C>T" "" "likely pathogenic (recessive)" ""
"0000778370" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Weisschuh 2020:32531858}" "" "c.2588G>C/p.G863A" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000778371" "0" "70" "1" "94474368" "94474368" "subst" "4.06128E-6" "01695" "ABCA4_000887" "g.94474368C>A" "" "{PMID:Weisschuh 2020:32531858}" "" "c.5774G>T/p.R1925I" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94008812C>A" "" "likely pathogenic (recessive)" ""
"0000778372" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Weisschuh 2020:32531858}" "" "c.2588G>C/p.G863A" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000778373" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Weisschuh 2020:32531858}" "" "c.768G>T/p.?" "" "Unknown" "yes" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000778374" "0" "90" "1" "94510168" "94510168" "subst" "0" "01695" "ABCA4_001525" "g.94510168C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "c.3050+1G>A/p.?" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94044612C>T" "" "pathogenic (recessive)" ""
"0000778375" "0" "70" "1" "94476812" "94476812" "subst" "0" "01695" "ABCA4_000048" "g.94476812A>G" "" "{PMID:Weisschuh 2020:32531858}" "" "c.5584+6T>C/p.?" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94011256A>G" "" "likely pathogenic (recessive)" ""
"0000778376" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "c.5714+5G>A/p.?" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000778377" "0" "90" "1" "94492937" "94492937" "subst" "0" "01695" "ABCA4_000529" "g.94492937G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "c.4539+2064C>T/p.?" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94027381G>A" "" "pathogenic (recessive)" ""
"0000778378" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "c.5882G>A/p.G1961E" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000778379" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Reich 2020:33185728}" "" "c.1622T>C (p.Leu541Pro) c.3113C>T (p.Ala1038Val)" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000778380" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Reich 2020:33185728}" "" "c.5882G>A (p.Gly1961Glu)" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000778381" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Reich 2020:33185728}" "" "c.5603A>T (p.Asn1868Ile)" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000778382" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Reich 2020:33185728}" "" "c.3113C>T (p.Ala1038Val)" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000778383" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Reich 2020:33185728}" "" "c.5461-10T>C (unknown)" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000778384" "0" "70" "1" "94476464" "94476464" "subst" "4.06266E-5" "01695" "ABCA4_001205" "g.94476464G>A" "" "{PMID:Reich 2020:33185728}" "" "c.5461-10T>C (unknown) c.5606C>T (p.Pro1869Leu)" "" "Unknown" "" "" "0" "" "" "g.94010908G>A" "" "likely pathogenic (recessive)" ""
"0000778385" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Reich 2020:33185728}" "" "c.5461-10T>C (unknown) c.5606C>T (p.Pro1869Leu)" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000778386" "0" "90" "1" "94466456" "94466456" "subst" "8.1217E-6" "01695" "ABCA4_000181" "g.94466456G>A" "" "{PMID:Reich 2020:33185728}" "" "c.6415C>T (p.Arg2139Trp)" "" "Unknown" "" "" "0" "" "" "g.94000900G>A" "" "pathogenic (recessive)" ""
"0000778387" "0" "90" "1" "94528868" "94528868" "del" "0" "01695" "ABCA4_000304" "g.94528868del" "" "{PMID:Hu 2020:33129279}" "" "c.1561delG p.(Val521Serfs*47)" "" "Unknown" "" "" "0" "" "" "g.94063312del" "" "pathogenic (recessive)" ""
"0000778388" "0" "50" "1" "94578589" "94578594" "del" "0" "01695" "ABCA4_000249" "g.94578589_94578594del" "" "{PMID:Hu 2020:33129279}" "" "c.101_106delCTTTAT p.(Ser34_Leu35del)" "" "Unknown" "" "" "0" "" "" "g.94113033_94113038del" "" "VUS" ""
"0000778389" "0" "70" "1" "94508383" "94508383" "subst" "0" "01695" "ABCA4_001299" "g.94508383G>T" "" "{PMID:Hu 2020:33129279}" "" "c.3262C>A p.(Pro1088Thr)" "" "Unknown" "" "" "0" "" "" "g.94042827G>T" "" "likely pathogenic (recessive)" ""
"0000778390" "0" "70" "1" "94546114" "94546114" "subst" "0" "01695" "ABCA4_000983" "g.94546114T>C" "" "{PMID:Hu 2020:33129279}" "" "c.1019A>G p.(Tyr340Cys)" "" "Unknown" "" "" "0" "" "" "g.94080558T>C" "" "likely pathogenic (recessive)" ""
"0000778391" "0" "90" "1" "94528311" "94528311" "subst" "0" "01695" "ABCA4_001138" "g.94528311T>C" "" "{PMID:Hu 2020:33129279}" "" "c.1761-2A>G p.?" "" "Unknown" "" "" "0" "" "" "g.94062755T>C" "" "pathogenic (recessive)" ""
"0000778392" "0" "90" "1" "94526194" "94526194" "dup" "0" "01695" "ABCA4_001308" "g.94526194dup" "" "{PMID:Hu 2020:33129279}" "" "c.2063_2064insA p.(Asn688Lysfs*78)" "" "Unknown" "" "" "0" "" "" "g.94060638dup" "" "pathogenic (recessive)" ""
"0000778393" "0" "90" "1" "94509032" "94509032" "subst" "0" "01695" "ABCA4_001354" "g.94509032C>T" "" "{PMID:Hu 2020:33129279}" "" "c.3051-1G>A p.?" "" "Unknown" "" "" "0" "" "" "g.94043476C>T" "" "pathogenic (recessive)" ""
"0000778394" "0" "70" "1" "94480232" "94480232" "subst" "0" "01695" "ABCA4_000444" "g.94480232G>A" "" "{PMID:Hu 2020:33129279}" "" "c.5327C>T p.(Pro1776Leu)" "" "Unknown" "" "" "0" "" "" "g.94014676G>A" "" "likely pathogenic (recessive)" ""
"0000778395" "0" "70" "1" "94574147" "94574147" "subst" "8.12236E-6" "01695" "ABCA4_000213" "g.94574147G>A" "" "{PMID:Hu 2020:33129279}" "" "c.428C>T p.(Pro143Leu)" "" "Unknown" "" "" "0" "" "" "g.94108591G>A" "" "likely pathogenic (recessive)" ""
"0000778396" "0" "70" "1" "94544888" "94544888" "subst" "0" "01695" "ABCA4_001317" "g.94544888A>G" "" "{PMID:Hu 2020:33129279}" "" "c.1229T>C p.(Ile410Thr)" "" "Unknown" "" "" "0" "" "" "g.94079332A>G" "" "likely pathogenic (recessive)" ""
"0000778397" "0" "70" "1" "94510202" "94510202" "subst" "0" "01695" "ABCA4_001355" "g.94510202C>T" "" "{PMID:Hu 2020:33129279}" "" "c.3017G>A p.(Gly1006Asp)" "" "Unknown" "" "" "0" "" "" "g.94044646C>T" "" "likely pathogenic (recessive)" ""
"0000778398" "0" "50" "1" "94578589" "94578594" "del" "0" "01695" "ABCA4_000249" "g.94578589_94578594del" "" "{PMID:Hu 2020:33129279}" "" "c.101_106delCTTTAT p.(Ser34_Leu35del)" "" "Unknown" "" "" "0" "" "" "g.94113033_94113038del" "" "VUS" ""
"0000778399" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Oh 2020:32445700}" "" "c.5882G>A:p.Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000778400" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Oh 2020:32445700}" "" "c.5882G>A:p.Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000778401" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Oh 2020:32445700}" "" "c.5882G>A:p.Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000778402" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Oh 2020:32445700}" "" "c.5882G>A:p.Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000778403" "0" "50" "1" "94517225" "94517225" "subst" "8.12249E-6" "01695" "ABCA4_000703" "g.94517225A>G" "" "{PMID:Georgiou 2019:31812472}" "" "c.2617T>C p.Phe873Leu" "" "Unknown" "" "" "0" "" "" "g.94051669A>G" "" "VUS" ""
"0000778404" "0" "70" "1" "94543269" "94543269" "subst" "0.000179087" "01695" "ABCA4_000307" "g.94543269G>A" "" "{PMID:Georgiou 2019:31812472}" "" "c.1531C>T p.Arg511Cys" "" "Unknown" "" "" "0" "" "" "g.94077713G>A" "" "likely pathogenic (recessive)" ""
"0000778405" "0" "70" "1" "94546261" "94546261" "subst" "0.000648567" "01695" "ABCA4_000353" "g.94546261G>A" "" "{PMID:Georgiou 2019:31812472}" "" "c.872C>T p.Pro291Leu; c.5218_5219insCTG" "" "Unknown" "" "" "0" "" "" "g.94080705G>A" "" "likely pathogenic (recessive)" ""
"0000778406" "0" "70" "1" "94481391" "94481393" "dup" "0" "01695" "ABCA4_001714" "g.94481391_94481393dup" "" "{PMID:Georgiou 2019:31812472}" "" "c.872C>T p.Pro291Leu; c.5218_5219insCTG" "" "Unknown" "" "" "0" "" "" "g.94015835_94015837dup" "" "likely pathogenic (recessive)" ""
"0000778407" "0" "70" "1" "94543269" "94543269" "subst" "0.000179087" "01695" "ABCA4_000307" "g.94543269G>A" "" "{PMID:Georgiou 2019:31812472}" "" "c.1531C>T p.Arg511Cys" "" "Unknown" "" "" "0" "" "" "g.94077713G>A" "" "likely pathogenic (recessive)" ""
"0000778408" "0" "70" "1" "94546261" "94546261" "subst" "0.000648567" "01695" "ABCA4_000353" "g.94546261G>A" "" "{PMID:Georgiou 2019:31812472}" "" "c.872C>T p.Pro291Leu; c.5218_5219insCTG" "" "Unknown" "" "" "0" "" "" "g.94080705G>A" "" "likely pathogenic (recessive)" ""
"0000778409" "0" "70" "1" "94481391" "94481393" "dup" "0" "01695" "ABCA4_001714" "g.94481391_94481393dup" "" "{PMID:Georgiou 2019:31812472}" "" "c.872C>T p.Pro291Leu; c.5218_5219insCTG" "" "Unknown" "" "" "0" "" "" "g.94015835_94015837dup" "" "likely pathogenic (recessive)" ""
"0000778410" "0" "50" "1" "94487436" "94487436" "subst" "2.03047E-5" "01695" "ABCA4_000498" "g.94487436A>G" "" "{PMID:Georgiou 2019:31812472}" "" "c.4739T>C p.Leu1580Ser" "" "Unknown" "" "" "0" "" "" "g.94021880A>G" "" "VUS" ""
"0000778411" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Georgiou 2019:31812472}" "" "c.5882G>A p.Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000778412" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Georgiou 2019:31812472}" "" "c.6079C>T p.Leu2027Phe" "" "Unknown" "" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic (recessive)" ""
"0000778413" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Georgiou 2019:31812472}" "" "c.5882G>A p.Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000778414" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Georgiou 2019:31812472}" "" "c.6079C>T p.Leu2027Phe" "" "Unknown" "" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic (recessive)" ""
"0000778415" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Georgiou 2019:31812472}" "" "c.6079C>T p.Leu2027Phe" "" "Unknown" "" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic (recessive)" ""
"0000778416" "0" "70" "1" "94485247" "94485247" "subst" "4.07647E-5" "01695" "ABCA4_000475" "g.94485247C>T" "" "{PMID:Georgiou 2019:31812472}" "" "c.5087G>A p.Ser1696Asn" "" "Unknown" "" "" "0" "" "" "g.94019691C>T" "" "likely pathogenic (recessive)" ""
"0000778417" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Georgiou 2019:31812472}" "" "c.2588G>C p.Gly863Ala" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000778418" "0" "50" "1" "94586615" "94586615" "subst" "4.06085E-6" "01695" "ABCA4_002257" "g.94586615C>T" "" "{PMID:Georgiou 2019:31812472}" "" "c.2588G>C p.Gly863Ala" "" "Unknown" "" "" "0" "" "" "g.94121059C>T" "" "VUS" ""
"0000778419" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Georgiou 2019:31812472}" "" "c.5882G>A p.Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000778420" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Georgiou 2019:31812472}" "" "c.5714+5G>A Splice" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000778421" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Georgiou 2019:31812472}" "" "c.5714+5G>A Splice" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000778422" "0" "70" "1" "94486896" "94486896" "subst" "3.65562E-5" "01695" "ABCA4_000085" "g.94486896G>A" "" "{PMID:Georgiou 2019:31812472}" "" "c.4918C>T p.Arg1640Trp" "" "Unknown" "" "" "0" "" "" "g.94021340G>A" "" "likely pathogenic (recessive)" ""
"0000778423" "0" "90" "1" "94508386" "94508386" "subst" "1.62443E-5" "01695" "ABCA4_000642" "g.94508386C>T" "" "{PMID:Georgiou 2019:31812472}" "" "c.3259G>A p.Glu1087Lys" "" "Unknown" "" "" "0" "" "" "g.94042830C>T" "" "pathogenic (recessive)" ""
"0000778424" "0" "70" "1" "94496583" "94496583" "subst" "2.03092E-5" "01695" "ABCA4_000190" "g.94496583A>G" "" "{PMID:Georgiou 2019:31812472}" "" "c.4222T>C p.Trp1408Arg" "" "Unknown" "" "" "0" "" "" "g.94031027A>G" "" "likely pathogenic (recessive)" ""
"0000778425" "0" "70" "1" "94486896" "94486896" "subst" "3.65562E-5" "01695" "ABCA4_000085" "g.94486896G>A" "" "{PMID:Georgiou 2019:31812472}" "" "c.4918C>T p.Arg1640Trp" "" "Unknown" "" "" "0" "" "" "g.94021340G>A" "" "likely pathogenic (recessive)" ""
"0000778426" "0" "70" "1" "94484001" "94484001" "subst" "0" "01695" "ABCA4_000016" "g.94484001C>T" "" "{PMID:Georgiou 2019:31812472}" "" "intronic change" "" "Unknown" "" "" "0" "" "" "g.94018445C>T" "" "likely pathogenic (recessive)" ""
"0000778427" "0" "70" "1" "94490567" "94490567" "subst" "5.68528E-5" "01695" "ABCA4_000026" "g.94490567G>A" "" "{PMID:Georgiou 2019:31812472}" "" "c.4577C>T p.Thr1526Met" "" "Unknown" "" "" "0" "" "" "g.94025011G>A" "" "likely pathogenic (recessive)" ""
"0000778428" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Georgiou 2019:31812472}" "" "c.5882G>A p.Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000778429" "0" "90" "1" "94466625" "94466625" "subst" "1.62559E-5" "01695" "ABCA4_000839" "g.94466625G>A" "" "{PMID:Georgiou 2019:31812472}" "" "c.6319C>T p.Arg2107Cys" "" "Unknown" "" "" "0" "" "" "g.94001069G>A" "" "pathogenic (recessive)" ""
"0000778430" "0" "70" "1" "94586549" "94586549" "subst" "0" "01695" "ABCA4_001028" "g.94586549C>T" "" "{PMID:Georgiou 2019:31812472}" "" "c.53G>A p.Arg18Gln" "" "Unknown" "" "" "0" "" "" "g.94120993C>T" "" "likely pathogenic (recessive)" ""
"0000778431" "0" "70" "1" "94578618" "94578618" "subst" "0.000166918" "01695" "ABCA4_000252" "g.94578618C>T" "" "{PMID:Georgiou 2019:31812472}" "" "c.71G>A p.Arg24His" "" "Unknown" "" "" "0" "" "" "g.94113062C>T" "" "likely pathogenic (recessive)" ""
"0000778432" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Georgiou 2019:31812472}" "" "c.5882G>A p.Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000778433" "0" "90" "1" "94526212" "94526212" "subst" "1.22012E-5" "01695" "ABCA4_000075" "g.94526212G>A" "" "{PMID:Georgiou 2019:31812472}" "" "c.2041C>T p.Arg681Ter" "" "Unknown" "" "" "0" "" "" "g.94060656G>A" "" "pathogenic (recessive)" ""
"0000778434" "0" "70" "1" "94522242" "94522242" "subst" "0" "01695" "ABCA4_001541" "g.94522242C>T" "" "{PMID:Georgiou 2019:31812472}" "" "c.2297G>A p.Gly766Asp" "" "Unknown" "" "" "0" "" "" "g.94056686C>T" "" "likely pathogenic (recessive)" ""
"0000778435" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Georgiou 2019:31812472}" "" "c.5882G>A p.Gly1961Glu" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000778436" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Georgiou 2019:31812472}" "" "c.6079C>T p.Leu2027Phe" "" "Unknown" "" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic (recessive)" ""
"0000778437" "0" "70" "1" "94544249" "94544249" "subst" "8.12196E-6" "01695" "ABCA4_000323" "g.94544249A>G" "" "{PMID:Georgiou 2019:31812472}" "" "c.1253T>C p.Phe418Ser" "" "Unknown" "" "" "0" "" "" "g.94078693A>G" "" "likely pathogenic (recessive)" ""
"0000778438" "0" "90" "1" "94496571" "94496571" "subst" "4.06174E-6" "01695" "ABCA4_000111" "g.94496571G>A" "" "{PMID:Georgiou 2019:31812472}" "" "c.4234C>T p.Gln1412Ter" "" "Unknown" "" "" "0" "" "" "g.94031015G>A" "" "pathogenic (recessive)" ""
"0000778439" "0" "70" "1" "94487251" "94487251" "subst" "2.85679E-5" "01695" "ABCA4_000490" "g.94487251G>T" "" "{PMID:Georgiou 2019:31812472}" "" "c.4793C>A p.Ala1598Asp" "" "Unknown" "" "" "0" "" "" "g.94021695G>T" "" "likely pathogenic (recessive)" ""
"0000778440" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Georgiou 2019:31812472}" "" "c.2588G>C p.Gly863Ala" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000778441" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Georgiou 2019:31812472}" "" "c.5461-10T>C" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000778442" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Georgiou 2019:31812472}" "" "c.3113C>T p.Ala1038Val" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000778443" "0" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "" "{PMID:Georgiou 2019:31812472}" "" "c.4469G>A p.Cys1490Tyr" "" "Unknown" "" "" "0" "" "" "g.94029515C>T" "" "likely pathogenic (recessive)" ""
"0000778444" "0" "90" "1" "94528666" "94528666" "subst" "0" "01695" "ABCA4_002086" "g.94528666A>G" "" "{PMID:Georgiou 2019:31812472}" "" "c.1760+2T>C" "" "Unknown" "" "" "0" "" "" "g.94063110A>G" "" "pathogenic (recessive)" ""
"0000778445" "0" "70" "1" "94490567" "94490567" "subst" "5.68528E-5" "01695" "ABCA4_000026" "g.94490567G>A" "" "{PMID:Georgiou 2019:31812472}" "" "c.4577C>T" "" "Unknown" "" "" "0" "" "" "g.94025011G>A" "" "likely pathogenic (recessive)" ""
"0000778446" "0" "70" "1" "94495083" "94495083" "subst" "0.000124542" "01695" "ABCA4_000542" "g.94495083G>A" "" "{PMID:Sodi 2018:30285522}" "" "c.4457C>T p.(Pro1486Leu)" "" "Unknown" "" "" "0" "" "" "g.94029527G>A" "" "likely pathogenic (recessive)" ""
"0000778447" "0" "90" "1" "94564549" "94564549" "subst" "0" "01695" "ABCA4_000199" "g.94564549T>A" "" "{PMID:Sodi 2018:30285522}" "" "c.571-2A>T p.(?)" "" "Unknown" "" "" "0" "" "" "g.94098993T>A" "" "pathogenic (recessive)" ""
"0000778448" "0" "50" "1" "94512602" "94512602" "subst" "0.000369717" "01695" "ABCA4_000052" "g.94512602C>T" "" "{PMID:Sodi 2018:30285522}" "" "c.2791G>A p.(Val931Met)" "" "Unknown" "" "" "0" "" "" "g.94047046C>T" "" "VUS" ""
"0000778449" "0" "70" "1" "94577008" "94577008" "subst" "0" "01695" "ABCA4_000223" "g.94577008G>T" "" "{PMID:Sodi 2018:30285522}" "" "c.288C>A p.(Asn96Lys)" "" "Unknown" "" "" "0" "" "" "g.94111452G>T" "" "likely pathogenic (recessive)" ""
"0000778450" "0" "70" "1" "94490567" "94490567" "subst" "5.68528E-5" "01695" "ABCA4_000026" "g.94490567G>A" "" "{PMID:Sodi 2018:30285522}" "" "c.4577C>T p.(Thr1526Met)" "" "Unknown" "" "" "0" "" "" "g.94025011G>A" "" "likely pathogenic (recessive)" ""
"0000778451" "0" "90" "1" "94509026" "94509026" "subst" "4.06497E-5" "01695" "ABCA4_000660" "g.94509026G>A" "" "{PMID:Sodi 2018:30285522}" "" "c.3056C>T p.(T1hr019Met)" "" "Unknown" "" "" "0" "" "" "g.94043470G>A" "" "pathogenic (recessive)" ""
"0000778452" "0" "90" "1" "94509026" "94509026" "subst" "4.06497E-5" "01695" "ABCA4_000660" "g.94509026G>A" "" "{PMID:Sodi 2018:30285522}" "" "c.3056C>T p.(T1hr019Met)" "" "Unknown" "" "" "0" "" "" "g.94043470G>A" "" "pathogenic (recessive)" ""
"0000778453" "0" "70" "1" "94480142" "94480142" "subst" "0" "01695" "ABCA4_001693" "g.94480142C>T" "" "{PMID:Sodi 2018:30285522}" "" "c.5417G>A p.(Ser1806Asn)" "" "Unknown" "" "" "0" "" "" "g.94014586C>T" "" "likely pathogenic (recessive)" ""
"0000778454" "0" "70" "1" "94485247" "94485247" "subst" "4.07647E-5" "01695" "ABCA4_000475" "g.94485247C>T" "" "{PMID:Sodi 2018:30285522}" "" "c.5087G>A p.(Ser1696Asn)" "" "Unknown" "" "" "0" "" "" "g.94019691C>T" "" "likely pathogenic (recessive)" ""
"0000778455" "0" "90" "1" "94508349" "94508349" "subst" "0" "01695" "ABCA4_001072" "g.94508349G>C" "" "{PMID:Sodi 2018:30285522}" "" "c.3296C>G p.(Ser1099*)" "" "Unknown" "" "" "0" "" "" "g.94042793G>C" "" "pathogenic (recessive)" ""
"0000778456" "0" "90" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Sodi 2018:30285522}" "" "c.6320G>A p.(Arg2107His)" "" "Unknown" "" "" "0" "" "" "g.94001068C>T" "" "pathogenic (recessive)" ""
"0000778457" "0" "90" "1" "94471056" "94471056" "subst" "2.84398E-5" "01695" "ABCA4_000050" "g.94471056G>A" "" "{PMID:Sodi 2018:30285522}" "" "c.6088C>T p.(Arg2030*)" "" "Unknown" "" "" "0" "" "" "g.94005500G>A" "" "pathogenic (recessive)" ""
"0000778458" "0" "70" "1" "94476875" "94476875" "subst" "1.62489E-5" "01695" "ABCA4_001280" "g.94476875G>A" "" "{PMID:Sodi 2018:30285522}" "" "c.5527C>T p.(Arg1843Trp)" "" "Unknown" "" "" "0" "" "" "g.94011319G>A" "" "likely pathogenic (recessive)" ""
"0000778459" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Sodi 2018:30285522}" "" "c.6079C>T p.(Leu2027Phe)" "" "Unknown" "" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic (recessive)" ""
"0000778460" "0" "70" "1" "94508322" "94508322" "subst" "1.62513E-5" "01695" "ABCA4_000128" "g.94508322C>T" "" "{PMID:Sodi 2018:30285522}" "" "c.3323G>A p.(Arg1108His)" "" "Unknown" "" "" "0" "" "" "g.94042766C>T" "" "likely pathogenic (recessive)" ""
"0000778461" "0" "50" "1" "94496039" "94496039" "subst" "0.00157963" "01695" "ABCA4_000552" "g.94496039C>T" "" "{PMID:Sodi 2018:30285522}" "" "c.4297G>A p.(Val1433Ile)" "" "Unknown" "" "" "0" "" "" "g.94030483C>T" "" "VUS" ""
"0000778462" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Sodi 2018:30285522}" "" "c.3322C>T p.(Arg1108Cys)" "" "Unknown" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000778463" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Sodi 2018:30285522}" "" "c.3322C>T p.(Arg1108Cys)" "" "Unknown" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000778464" "0" "90" "1" "94463488" "94463488" "subst" "5.2803E-5" "01695" "ABCA4_000802" "g.94463488G>A" "" "{PMID:Sodi 2018:30285522}" "" "c.6658C>T p.(Gln2220*)" "" "Unknown" "" "" "0" "" "" "g.93997932G>A" "" "pathogenic (recessive)" ""
"0000778465" "0" "90" "1" "94496571" "94496571" "subst" "4.06174E-6" "01695" "ABCA4_000111" "g.94496571G>A" "" "{PMID:Sodi 2018:30285522}" "" "c.4234C>T p.(Gln1412*)" "" "Unknown" "" "" "0" "" "" "g.94031015G>A" "" "pathogenic (recessive)" ""
"0000778466" "0" "70" "1" "94497334" "94497334" "subst" "0" "01695" "ABCA4_000574" "g.94497334C>T" "" "{PMID:Sodi 2018:30285522}" "" "c.4128G>A p.(=) p.(Gln1376Gln)" "" "Unknown" "" "" "0" "" "" "g.94031778C>T" "" "likely pathogenic (recessive)" ""
"0000778467" "0" "90" "1" "94497468" "94497468" "subst" "0" "01695" "ABCA4_000582" "g.94497468G>A" "" "{PMID:Sodi 2018:30285522}" "" "c.3994C>T p.(Gln1332*)" "" "Unknown" "" "" "0" "" "" "g.94031912G>A" "" "pathogenic (recessive)" ""
"0000778468" "0" "70" "1" "94495090" "94495090" "subst" "0" "01695" "ABCA4_000543" "g.94495090G>A" "" "{PMID:Sodi 2018:30285522}" "" "c.4450C>T p.(Pro1484Ser)" "" "Unknown" "" "" "0" "" "" "g.94029534G>A" "" "likely pathogenic (recessive)" ""
"0000778469" "0" "70" "1" "94577093" "94577093" "subst" "8.12394E-6" "01695" "ABCA4_000147" "g.94577093G>A" "" "{PMID:Sodi 2018:30285522}" "" "c.203C>T p.(Pro68Leu)" "" "Unknown" "" "" "0" "" "" "g.94111537G>A" "" "likely pathogenic (recessive)" ""
"0000778470" "0" "90" "1" "94466452" "94466452" "subst" "4.06088E-6" "01695" "ABCA4_000822" "g.94466452A>T" "" "{PMID:Sodi 2018:30285522}" "" "c.6419T>A p.(Leu2140Gln)" "" "Unknown" "" "" "0" "" "" "g.94000896A>T" "" "pathogenic (recessive)" ""
"0000778471" "0" "50" "1" "94473287" "94473287" "subst" "0.00293818" "01695" "ABCA4_000395" "g.94473287G>A" "" "{PMID:Sodi 2018:30285522}" "" "c.5908C>T p.(Leu1970Phe)" "" "Unknown" "" "" "0" "" "" "g.94007731G>A" "" "VUS" ""
"0000778472" "0" "90" "1" "94463598" "94463601" "dup" "0" "01695" "ABCA4_000808" "g.94463598_94463601dup" "" "{PMID:Sodi 2018:30285522}" "" "c.6545_6548dup p.(Pro2184Glufs*68)" "" "Unknown" "" "" "0" "" "" "g.93998042_93998045dup" "" "pathogenic (recessive)" ""
"0000778473" "0" "50" "1" "94487436" "94487436" "subst" "2.03047E-5" "01695" "ABCA4_000498" "g.94487436A>G" "" "{PMID:Sodi 2018:30285522}" "" "c.4739T>C p.(Leu1580Ser)" "" "Unknown" "" "" "0" "" "" "g.94021880A>G" "" "VUS" ""
"0000778474" "0" "50" "1" "94463631" "94463631" "subst" "0" "01695" "ABCA4_000810" "g.94463631T>C" "" "{PMID:Sodi 2018:30285522}" "" "c.6515A>G p.(Lys2172Arg)" "" "Unknown" "" "" "0" "" "" "g.93998075T>C" "" "VUS" ""
"0000778475" "0" "90" "1" "94528714" "94528714" "subst" "0" "01695" "ABCA4_000296" "g.94528714G>A" "" "{PMID:Sodi 2018:30285522}" "" "c.1714C>T p.(Arg572*)" "" "Unknown" "" "" "0" "" "" "g.94063158G>A" "" "pathogenic (recessive)" ""
"0000778476" "0" "90" "1" "94473855" "94473855" "del" "4.06105E-6" "01695" "ABCA4_000404" "g.94473855del" "" "{PMID:Sodi 2018:30285522}" "" "c.5836-2delA p.(?)" "" "Unknown" "" "" "0" "" "" "g.94008299del" "" "pathogenic (recessive)" ""
"0000778477" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Sodi 2018:30285522}" "" "c.5714+5G>A p.(?)" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000778478" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Sodi 2018:30285522}" "" "c.5714+5G>A p.(?)" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000778479" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Sodi 2018:30285522}" "" "c.5714+5G>A p.(?)" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000778480" "0" "90" "1" "94486794" "94486794" "subst" "0" "01695" "ABCA4_000478" "g.94486794A>G" "" "{PMID:Sodi 2018:30285522}" "" "c.5018+2T>C p.(?)" "" "Unknown" "" "" "0" "" "" "g.94021238A>G" "" "pathogenic (recessive)" ""
"0000778481" "0" "70" "1" "94476890" "94476890" "subst" "4.06227E-6" "01695" "ABCA4_000126" "g.94476890G>T" "" "{PMID:Sodi 2018:30285522}" "" "c.5512C>A p.(His1838Asn)" "" "Unknown" "" "" "0" "" "" "g.94011334G>T" "" "likely pathogenic (recessive)" ""
"0000778482" "0" "90" "1" "94510286" "94510286" "subst" "0" "01695" "ABCA4_000182" "g.94510286C>T" "" "{PMID:Sodi 2018:30285522}" "" "c.2933G>A p.(Gly978Asp)" "" "Unknown" "" "" "0" "" "" "g.94044730C>T" "" "pathogenic (recessive)" ""
"0000778483" "0" "70" "1" "94473266" "94473266" "subst" "8.14677E-6" "01695" "ABCA4_000389" "g.94473266C>T" "" "{PMID:Sodi 2018:30285522}" "" "c.5929G>A p.(Gly1977Ser)" "" "Unknown" "" "" "0" "" "" "g.94007710C>T" "" "likely pathogenic (recessive)" ""
"0000778484" "0" "70" "1" "94473266" "94473266" "subst" "8.14677E-6" "01695" "ABCA4_000389" "g.94473266C>T" "" "{PMID:Sodi 2018:30285522}" "" "c.5929G>A p.(Gly1977Ser)" "" "Unknown" "" "" "0" "" "" "g.94007710C>T" "" "likely pathogenic (recessive)" ""
"0000778485" "0" "70" "1" "94487251" "94487251" "subst" "2.85679E-5" "01695" "ABCA4_000490" "g.94487251G>T" "" "{PMID:Sodi 2018:30285522}" "" "c.4793C>A p.(Ala1598Asp)" "" "Unknown" "" "" "0" "" "" "g.94021695G>T" "" "likely pathogenic (recessive)" ""
"0000778486" "0" "50" "1" "94568627" "94568627" "subst" "0.000422314" "01695" "ABCA4_000207" "g.94568627C>T" "" "{PMID:Sodi 2018:30285522}" "" "c.514G>A p.(Gly172Ser)" "" "Unknown" "" "" "0" "" "" "g.94103071C>T" "" "VUS" ""
"0000778487" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Sodi 2018:30285522}" "" "c.4139C>T p.(Pro1380Leu)" "" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000778488" "0" "70" "1" "94508322" "94508322" "subst" "1.62513E-5" "01695" "ABCA4_000128" "g.94508322C>T" "" "{PMID:Sodi 2018:30285522}" "" "c.3323G>A p.(Arg1108His)" "" "Unknown" "" "" "0" "" "" "g.94042766C>T" "" "likely pathogenic (recessive)" ""
"0000778489" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Sodi 2018:30285522}" "" "c.4139C>T p.(Pro1380Leu)" "" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000778490" "0" "70" "1" "94487251" "94487251" "subst" "2.85679E-5" "01695" "ABCA4_000490" "g.94487251G>T" "" "{PMID:Sodi 2018:30285522}" "" "c.4793C>A p.(Ala1598Asp)" "" "Unknown" "" "" "0" "" "" "g.94021695G>T" "" "likely pathogenic (recessive)" ""
"0000778491" "0" "90" "1" "94486794" "94486794" "subst" "0" "01695" "ABCA4_000478" "g.94486794A>G" "" "{PMID:Sodi 2018:30285522}" "" "c.5018+2T>C p.(?)" "" "Unknown" "" "" "0" "" "" "g.94021238A>G" "" "pathogenic (recessive)" ""
"0000778492" "0" "70" "1" "94497447" "94497470" "dup" "0" "01695" "ABCA4_001857" "g.94497447_94497470dup" "" "{PMID:Sodi 2018:30285522}" "" "c.3994_4017dup p.(Gln1332_Cys1339dup)" "" "Unknown" "" "" "0" "" "" "g.94031891_94031914dup" "" "likely pathogenic (recessive)" ""
"0000778493" "0" "70" "1" "94490567" "94490567" "subst" "5.68528E-5" "01695" "ABCA4_000026" "g.94490567G>A" "" "{PMID:Sodi 2018:30285522}" "" "c.4577C>T p.(Thr1526Met)" "" "Unknown" "" "" "0" "" "" "g.94025011G>A" "" "likely pathogenic (recessive)" ""
"0000778494" "0" "90" "1" "94505675" "94505675" "subst" "0" "01695" "ABCA4_000610" "g.94505675G>T" "" "{PMID:Sodi 2018:30285522}" "" "c.3531C>A p.(Cys1177*)" "" "Unknown" "" "" "0" "" "" "g.94040119G>T" "" "pathogenic (recessive)" ""
"0000778495" "0" "90" "1" "94526154" "94526154" "subst" "4.06441E-6" "01695" "ABCA4_000752" "g.94526154C>T" "" "{PMID:Sodi 2018:30285522}" "" "c.2099G>A p.(Trp700*)" "" "Unknown" "" "" "0" "" "" "g.94060598C>T" "" "pathogenic (recessive)" ""
"0000778496" "0" "90" "1" "94487436" "94487441" "delins" "0" "01695" "ABCA4_001761" "g.94487436_94487441delinsGG" "" "{PMID:Sodi 2018:30285522}" "" "c.4734_4739delinsCC p.(Phe1579Glnfs*8)" "" "Unknown" "" "" "0" "" "" "g.94021880_94021885delinsGG" "" "pathogenic (recessive)" ""
"0000778497" "0" "90" "1" "94586541" "94586541" "subst" "4.0624E-6" "01695" "ABCA4_000256" "g.94586541G>A" "" "{PMID:Sodi 2018:30285522}" "" "c.61C>T p.(Gln21*)" "" "Unknown" "" "" "0" "" "" "g.94120985G>A" "" "pathogenic (recessive)" ""
"0000778498" "0" "70" "1" "94520735" "94520735" "subst" "0" "01695" "ABCA4_000718" "g.94520735A>C" "" "{PMID:Sodi 2018:30285522}" "" "c.2519T>G p.(Met840Arg)" "" "Unknown" "" "" "0" "" "" "g.94055179A>C" "" "likely pathogenic (recessive)" ""
"0000778499" "0" "50" "1" "94544257" "94544257" "subst" "0" "01695" "ABCA4_000324" "g.94544257G>T" "" "{PMID:Sodi 2018:30285522}" "" "c.1245C>A p.(Asn415Lys)" "" "Unknown" "" "" "0" "" "" "g.94078701G>T" "" "VUS" ""
"0000778500" "0" "90" "1" "94509026" "94509026" "subst" "4.06497E-5" "01695" "ABCA4_000660" "g.94509026G>A" "" "{PMID:Sodi 2018:30285522}" "" "c.3056C>T p.(T1hr019Met)" "" "Unknown" "" "" "0" "" "" "g.94043470G>A" "" "pathogenic (recessive)" ""
"0000778501" "0" "90" "1" "94505675" "94505675" "subst" "0" "01695" "ABCA4_000610" "g.94505675G>T" "" "{PMID:Sodi 2018:30285522}" "" "c.3531C>A p.(Cys1177*)" "" "Unknown" "" "" "0" "" "" "g.94040119G>T" "" "pathogenic (recessive)" ""
"0000778502" "0" "70" "1" "94508412" "94508412" "subst" "0" "01695" "ABCA4_000644" "g.94508412C>T" "" "{PMID:Sodi 2018:30285522}" "" "c.3233G>A p.(Gly1078Glu)" "" "Unknown" "" "" "0" "" "" "g.94042856C>T" "" "likely pathogenic (recessive)" ""
"0000778503" "0" "70" "1" "94510176" "94510176" "subst" "4.06078E-6" "01695" "ABCA4_001961" "g.94510176A>T" "" "{PMID:Sodi 2018:30285522}" "" "c.3043T>A p.(Phe1015Ile)" "" "Unknown" "" "" "0" "" "" "g.94044620A>T" "" "likely pathogenic (recessive)" ""
"0000778504" "0" "90" "1" "94586541" "94586541" "subst" "4.0624E-6" "01695" "ABCA4_000256" "g.94586541G>A" "" "{PMID:Sodi 2018:30285522}" "" "c.61C>T p.(Gln21*)" "" "Unknown" "" "" "0" "" "" "g.94120985G>A" "" "pathogenic (recessive)" ""
"0000778505" "0" "70" "1" "94480178" "94480178" "subst" "2.43692E-5" "01695" "ABCA4_000005" "g.94480178G>T" "" "{PMID:Sodi 2018:30285522}" "" "c.5381C>A p.(Ala1794Asp)" "" "Unknown" "" "" "0" "" "" "g.94014622G>T" "" "likely pathogenic (recessive)" ""
"0000778506" "0" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "" "{PMID:Alabduljalil 2019:30771335}" "" "c.4469G>A" "" "Unknown" "" "" "0" "" "" "g.94029515C>T" "" "likely pathogenic (recessive)" ""
"0000778507" "0" "90" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Alabduljalil 2019:30771335}" "" "c.2894A>G" "" "Unknown" "" "" "0" "" "" "g.94046943T>C" "" "pathogenic (recessive)" ""
"0000778508" "0" "70" "1" "94484001" "94484001" "subst" "0" "01695" "ABCA4_000016" "g.94484001C>T" "" "{PMID:Alabduljalil 2019:30771335}" "" "c.5196+1137G>A" "" "Unknown" "" "" "0" "" "" "g.94018445C>T" "" "likely pathogenic (recessive)" ""
"0000778509" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Alabduljalil 2019:30771335}" "" "c.4139C>T" "" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000778510" "0" "50" "1" "94487297" "94487297" "subst" "1.22574E-5" "01695" "ABCA4_001758" "g.94487297A>G" "" "{PMID:Alabduljalil 2019:30771335}" "" "c.4774–27T>C" "" "Unknown" "" "" "0" "" "" "g.94021741A>G" "" "VUS" ""
"0000778511" "0" "90" "1" "94544895" "94544895" "subst" "1.62455E-5" "01695" "ABCA4_000329" "g.94544895G>A" "" "{PMID:Alabduljalil 2019:30771335}" "" "c.1222C>T" "" "Unknown" "" "" "0" "" "" "g.94079339G>A" "" "pathogenic (recessive)" ""
"0000778512" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Alabduljalil 2019:30771335}" "" "c.3113C>T" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000778513" "0" "70" "1" "94486896" "94486896" "subst" "3.65562E-5" "01695" "ABCA4_000085" "g.94486896G>A" "" "{PMID:Alabduljalil 2019:30771335}" "" "c.4918C>T" "" "Unknown" "" "" "0" "" "" "g.94021340G>A" "" "likely pathogenic (recessive)" ""
"0000778514" "0" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "" "{PMID:Alabduljalil 2019:30771335}" "" "c.4469G>A" "" "Unknown" "" "" "0" "" "" "g.94029515C>T" "" "likely pathogenic (recessive)" ""
"0000778515" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Alabduljalil 2019:30771335}" "" "c.5461–10T>C" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000778516" "0" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "" "{PMID:Alabduljalil 2019:30771335}" "" "c.4469G>A" "" "Unknown" "" "" "0" "" "" "g.94029515C>T" "" "likely pathogenic (recessive)" ""
"0000778517" "0" "70" "1" "94577135" "94577135" "subst" "2.43718E-5" "01695" "ABCA4_000240" "g.94577135C>T" "" "{PMID:Alabduljalil 2019:30771335}" "" "c.161G>A" "" "Unknown" "" "" "0" "" "" "g.94111579C>T" "" "likely pathogenic (recessive)" ""
"0000778518" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Chen 2019:31015497}" "" "p.P1380L" "" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000778519" "0" "70" "1" "94528226" "94528226" "subst" "0" "01695" "ABCA4_002077" "g.94528226A>G" "" "{PMID:Chen 2019:31015497}" "" "p.V615A" "" "Unknown" "" "" "0" "" "" "g.94062670A>G" "" "likely pathogenic (recessive)" ""
"0000778520" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Chen 2019:31015497}" "" "p.[L541P;A1038V]" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000778521" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Chen 2019:31015497}" "" "p.G1961E" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000778522" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Chen 2019:31015497}" "" "p.G863A" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000778523" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Chen 2019:31015497}" "" "p.[L541P;A1038V]" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000778524" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Chen 2019:31015497}" "" "p.G1961E" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000778525" "0" "70" "1" "94512470" "94512470" "subst" "0" "01695" "ABCA4_001974" "g.94512470C>T" "" "{PMID:Chen 2019:31015497}" "" "c.2918+5G>A" "" "Unknown" "" "" "0" "" "" "g.94046914C>T" "" "likely pathogenic (recessive)" ""
"0000778526" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Chen 2019:31015497}" "" "p.N1868I" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000778527" "0" "90" "1" "94566773" "94566773" "subst" "0" "01695" "ABCA4_000946" "g.94566773T>C" "" "{PMID:Chen 2019:31015497}" "" "c.570+1798A>G" "" "Unknown" "" "" "0" "" "" "g.94101217T>C" "" "pathogenic (recessive)" ""
"0000778528" "1" "70" "1" "94484001" "94484001" "subst" "0" "01695" "ABCA4_000016" "g.94484001C>T" "" "{PMID:Chen 2019:31015497}" "" "c.[5196+1137G>A;1555–2745A>G]" "" "Unknown" "" "" "0" "" "" "g.94018445C>T" "" "likely pathogenic (recessive)" ""
"0000778529" "1" "70" "1" "94531618" "94531618" "subst" "0" "01695" "ABCA4_002111" "g.94531618T>C" "" "{PMID:Chen 2019:31015497}" "" "c.[5196+1137G>A;1555–2745A>G]" "" "Unknown" "" "" "0" "" "" "g.94066062T>C" "" "likely pathogenic (recessive)" ""
"0000778530" "0" "90" "1" "94496573" "94496574" "ins" "0" "01695" "ABCA4_001000" "g.94496573_94496574insATAC" "" "{PMID:Chen 2019:31015497}" "" "p.Q1412*" "" "Unknown" "" "" "0" "" "" "g.94031017_94031018insATAC" "" "pathogenic (recessive)" ""
"0000778531" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Chen 2019:31015497}" "" "p.[L541P;A1038V]" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000778532" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Chen 2019:31015497}" "" "p.L2027F" "" "Unknown" "" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic (recessive)" ""
"0000778533" "1" "70" "1" "94496509" "94496509" "subst" "0.00475243" "01695" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Chen 2019:31015497}" "" "c.[4253+43G>A;6006_609T>A]" "" "Unknown" "" "" "0" "" "" "g.94030953C>T" "" "likely pathogenic (recessive)" ""
"0000778534" "1" "50" "1" "94471747" "94471747" "subst" "0" "01695" "ABCA4_000882" "g.94471747A>T" "" "{PMID:Chen 2019:31015497}" "" "c.[4253+43G>A;6006_609T>A]" "" "Unknown" "" "" "0" "" "" "g.94006191A>T" "" "VUS" ""
"0000778535" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Chen 2019:31015497}" "" "p.N1868I" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000778536" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Chen 2019:31015497}" "" "p.[L541P;A1038V]" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000778537" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Chen 2019:31015497}" "" "p.N1868I" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000778538" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Chen 2019:31015497}" "" "p.L2027F" "" "Unknown" "" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic (recessive)" ""
"0000778539" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Chen 2019:31015497}" "" "p.[L541P;A1038V]" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000778540" "0" "90" "1" "94545018" "94545018" "subst" "0" "01695" "ABCA4_000333" "g.94545018C>T" "" "{PMID:Chen 2019:31015497}" "" "c.1100-1G>A" "" "Unknown" "" "" "0" "" "" "g.94079462C>T" "" "pathogenic (recessive)" ""
"0000778541" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Chen 2019:31015497}" "" "p.[L541P;A1038V]" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000778542" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Chen 2019:31015497}" "" "p.L2027F" "" "Unknown" "" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic (recessive)" ""
"0000778543" "0" "70" "1" "94490567" "94490567" "subst" "5.68528E-5" "01695" "ABCA4_000026" "g.94490567G>A" "" "{PMID:Chen 2019:31015497}" "" "p.T1526M" "" "Unknown" "" "" "0" "" "" "g.94025011G>A" "" "likely pathogenic (recessive)" ""
"0000778544" "0" "90" "1" "94473263" "94473263" "del" "0" "01695" "ABCA4_000388" "g.94473263del" "" "{PMID:Chen 2019:31015497}" "" "c.5935delA" "" "Unknown" "" "" "0" "" "" "g.94007707del" "" "pathogenic (recessive)" ""
"0000778545" "0" "90" "1" "94574256" "94574256" "subst" "2.8425E-5" "01695" "ABCA4_000040" "g.94574256G>A" "" "{PMID:Chen 2019:31015497}" "" "p.R107*" "" "Unknown" "" "" "0" "" "" "g.94108700G>A" "" "pathogenic (recessive)" ""
"0000778546" "1" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Chen 2019:31015497}" "" "p.N1868I; p.C1490Y" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000778547" "1" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "" "{PMID:Chen 2019:31015497}" "" "p.N1868I; p.C1490Y" "" "Unknown" "" "" "0" "" "" "g.94029515C>T" "" "likely pathogenic (recessive)" ""
"0000778548" "0" "70" "1" "94495083" "94495083" "subst" "0.000124542" "01695" "ABCA4_000542" "g.94495083G>A" "" "{PMID:Chen 2019:31015497}" "" "p.P1486L" "" "Unknown" "" "" "0" "" "" "g.94029527G>A" "" "likely pathogenic (recessive)" ""
"0000778549" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Chen 2019:31015497}" "" "p.N1868I" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000778550" "1" "90" "1" "94586536" "94586536" "subst" "0" "01695" "ABCA4_000255" "g.94586536C>T" "" "{PMID:Chen 2019:31015497}" "" "c.[859-9T>C;66G>A]" "" "Unknown" "" "" "0" "" "" "g.94120980C>T" "" "pathogenic (recessive)" ""
"0000778551" "0" "90" "1" "94463488" "94463488" "subst" "5.2803E-5" "01695" "ABCA4_000802" "g.94463488G>A" "" "{PMID:Chen 2019:31015497}" "" "p.Q2220*" "" "Unknown" "" "" "0" "" "" "g.93997932G>A" "" "pathogenic (recessive)" ""
"0000778552" "0" "50" "1" "94467506" "94467506" "subst" "3.24913E-5" "01695" "ABCA4_000785" "g.94467506C>T" "" "{PMID:Sung 2020:33261146}" "" "c.6190G>A" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94001950C>T" "" "VUS" ""
"0000778553" "11" "70" "1" "94471031" "94471031" "subst" "2.43825E-5" "01695" "ABCA4_001620" "g.94471031C>T" "" "{PMID:Sung 2020:33261146}" "" "c.[6113G>A] pat" "" "Unknown" "yes" "" "0" "" "" "g.94005475C>T" "" "likely pathogenic (recessive)" ""
"0000778554" "21" "70" "1" "94476425" "94476425" "subst" "8.12282E-6" "01695" "ABCA4_000419" "g.94476425A>G" "" "{PMID:Sung 2020:33261146}" "" "c.[5645T>C]" "" "Unknown" "yes" "" "0" "" "" "g.94010869A>G" "" "likely pathogenic (recessive)" ""
"0000778555" "21" "70" "1" "94476425" "94476425" "subst" "8.12282E-6" "01695" "ABCA4_000419" "g.94476425A>G" "" "{PMID:Sung 2020:33261146}" "" "c.[5645T>C] mat" "" "Unknown" "yes" "" "0" "" "" "g.94010869A>G" "" "likely pathogenic (recessive)" ""
"0000778556" "0" "90" "1" "94471026" "94471026" "subst" "1.21925E-5" "01695" "ABCA4_000791" "g.94471026G>A" "" "{PMID:Sung 2020:33261146}" "" "c.6118C>T" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94005470G>A" "" "pathogenic (recessive)" ""
"0000778557" "0" "50" "1" "94474381" "94474381" "subst" "1.21849E-5" "01695" "ABCA4_000410" "g.94474381C>T" "" "{PMID:Sung 2020:33261146}" "" "c.5761G>A" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94008825C>T" "" "VUS" ""
"0000778558" "0" "70" "1" "94463424" "94463424" "subst" "0" "01695" "ABCA4_001562" "g.94463424A>G" "" "{PMID:Sung 2020:33261146}" "" "c.6722T>C" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.93997868A>G" "" "likely pathogenic (recessive)" ""
"0000778559" "0" "70" "1" "94463424" "94463424" "subst" "0" "01695" "ABCA4_001562" "g.94463424A>G" "" "{PMID:Sung 2020:33261146}" "" "c.6722T>C" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.93997868A>G" "" "likely pathogenic (recessive)" ""
"0000778560" "0" "90" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Sung 2020:33261146}" "" "c.2894A>G" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94046943T>C" "" "pathogenic (recessive)" ""
"0000778561" "0" "50" "1" "94495021" "94495021" "subst" "0.000161713" "01695" "ABCA4_000538" "g.94495021C>T" "" "{PMID:Sung 2020:33261146}" "" "c.4519G>A" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94029465C>T" "" "VUS" ""
"0000778562" "0" "50" "1" "94506935" "94506935" "subst" "4.06098E-6" "01695" "ABCA4_000626" "g.94506935G>A" "" "{PMID:Sung 2020:33261146}" "" "c.3352C>T" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94041379G>A" "" "VUS" ""
"0000778563" "0" "90" "1" "94490589" "94490589" "del" "0" "01695" "ABCA4_000526" "g.94490589del" "" "{PMID:Sung 2020:33261146}" "" "c.4555del" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94025033del" "" "pathogenic (recessive)" ""
"0000778564" "0" "70" "1" "94471032" "94471032" "subst" "1.62553E-5" "01695" "ABCA4_000792" "g.94471032G>A" "" "{PMID:Sung 2020:33261146}" "" "c.6112C>T" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94005476G>A" "" "likely pathogenic (recessive)" ""
"0000778565" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Sung 2020:33261146}" "" "c.1804C>T" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94062710G>A" "" "pathogenic (recessive)" ""
"0000778566" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Sung 2020:33261146}" "" "c.1804C>T" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94062710G>A" "" "pathogenic (recessive)" ""
"0000778567" "0" "70" "1" "94476901" "94476901" "subst" "6.50005E-5" "01695" "ABCA4_001486" "g.94476901A>G" "" "{PMID:Sung 2020:33261146}" "" "c.5501T>C" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94011345A>G" "" "likely pathogenic (recessive)" ""
"0000778568" "0" "90" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Sung 2020:33261146}" "" "c.2894A>G" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94046943T>C" "" "pathogenic (recessive)" ""
"0000778569" "0" "70" "1" "94476424" "94476424" "subst" "2.43694E-5" "01695" "ABCA4_000418" "g.94476424C>T" "" "{PMID:Sung 2020:33261146}" "" "c.5646G>A" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010868C>T" "" "likely pathogenic (recessive)" ""
"0000778570" "0" "50" "1" "94510215" "94510215" "subst" "1.21818E-5" "01695" "ABCA4_000666" "g.94510215G>A" "" "{PMID:Sung 2020:33261146}" "" "c.3004C>T" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94044659G>A" "" "VUS" ""
"0000778571" "0" "90" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Sung 2020:33261146}" "" "c.6320G>A" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94001068C>T" "" "pathogenic (recessive)" ""
"0000778572" "0" "90" "1" "94471001" "94471001" "del" "0" "01695" "ABCA4_001337" "g.94471001del" "" "{PMID:Sung 2020:33261146}" "" "c.6146del" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94005445del" "" "pathogenic (recessive)" ""
"0000778573" "0" "90" "1" "94471001" "94471001" "del" "0" "01695" "ABCA4_001337" "g.94471001del" "" "{PMID:Sung 2020:33261146}" "" "c.6146del" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94005445del" "" "pathogenic (recessive)" ""
"0000778574" "0" "70" "1" "94471017" "94471017" "subst" "8.12836E-6" "01695" "ABCA4_001618" "g.94471017G>A" "" "{PMID:Sung 2020:33261146}" "" "c.6127C>T" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94005461G>A" "" "likely pathogenic (recessive)" ""
"0000778575" "0" "90" "1" "94461664" "94461664" "subst" "4.06841E-6" "01695" "ABCA4_000860" "g.94461664C>T" "" "{PMID:Sung 2020:33261146}" "" "c.6816+1G>A" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.93996108C>T" "" "pathogenic (recessive)" ""
"0000778576" "0" "90" "1" "94487197" "94487198" "ins" "0" "01695" "ABCA4_001753" "g.94487197_94487198insA" "" "{PMID:Sung 2020:33261146}" "" "c.4846_4847insT" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94021641_94021642insA" "" "pathogenic (recessive)" ""
"0000778577" "0" "50" "1" "94471025" "94471025" "subst" "0.00031698" "01695" "ABCA4_000096" "g.94471025C>T" "" "{PMID:Sung 2020:33261146}" "" "c.6119G>A" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94005469C>T" "" "VUS" ""
"0000778578" "0" "50" "1" "94474381" "94474381" "subst" "1.21849E-5" "01695" "ABCA4_000410" "g.94474381C>T" "" "{PMID:Sung 2020:33261146}" "" "c.5761G>A" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94008825C>T" "" "VUS" ""
"0000778579" "0" "50" "1" "94474381" "94474381" "subst" "1.21849E-5" "01695" "ABCA4_000410" "g.94474381C>T" "" "{PMID:Sung 2020:33261146}" "" "c.5761G>A" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94008825C>T" "" "VUS" ""
"0000778580" "0" "50" "1" "94495021" "94495021" "subst" "0.000161713" "01695" "ABCA4_000538" "g.94495021C>T" "" "{PMID:Sung 2020:33261146}" "" "c.4519G>A" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94029465C>T" "" "VUS" ""
"0000778581" "0" "70" "1" "94508341" "94508341" "subst" "1.21857E-5" "01695" "ABCA4_001298" "g.94508341C>A" "" "{PMID:Sung 2020:33261146}" "" "c.3304G>T" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94042785C>A" "" "likely pathogenic (recessive)" ""
"0000778582" "0" "70" "1" "94463648" "94463648" "subst" "0.000162447" "01695" "ABCA4_001373" "g.94463648G>C" "" "{PMID:Sung 2020:33261146}" "" "c.6498C>G" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.93998092G>C" "" "likely pathogenic (recessive)" ""
"0000778583" "0" "90" "1" "94471026" "94471026" "subst" "1.21925E-5" "01695" "ABCA4_000791" "g.94471026G>A" "" "{PMID:Sung 2020:33261146}" "" "c.6118C>T" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94005470G>A" "" "pathogenic (recessive)" ""
"0000778584" "0" "70" "1" "94514475" "94514475" "subst" "9.74667E-5" "01695" "ABCA4_001233" "g.94514475C>T" "" "{PMID:Sung 2020:33261146}" "" "c.2692G>A" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94048919C>T" "" "likely pathogenic (recessive)" ""
"0000778585" "0" "90" "1" "94495001" "94495002" "ins" "0" "01695" "ABCA4_000531" "g.94495001_94495002insG" "" "{PMID:Sung 2020:33261146}" "" "c.4538_4539insC" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94029445_94029446insG" "" "pathogenic (recessive)" ""
"0000778586" "0" "70" "1" "94476425" "94476425" "subst" "8.12282E-6" "01695" "ABCA4_000419" "g.94476425A>G" "" "{PMID:Sung 2020:33261146}" "" "c.5645T>C" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010869A>G" "" "likely pathogenic (recessive)" ""
"0000778587" "0" "70" "1" "94476425" "94476425" "subst" "8.12282E-6" "01695" "ABCA4_000419" "g.94476425A>G" "" "{PMID:Sung 2020:33261146}" "" "c.5645T>C" "no segregation analysis done" "Unknown" "" "" "0" "" "" "g.94010869A>G" "" "likely pathogenic (recessive)" ""
"0000778588" "0" "70" "1" "94544888" "94544888" "subst" "0" "01695" "ABCA4_001317" "g.94544888A>G" "" "{PMID:Sun 2020:33301772}" "" "c.1229T>C p.(Ile410Thr)" "" "Unknown" "" "" "0" "" "" "g.94079332A>G" "" "likely pathogenic (recessive)" ""
"0000778589" "0" "90" "1" "94467413" "94467413" "subst" "8.12612E-6" "01695" "ABCA4_000131" "g.94467413C>G" "" "{PMID:Sun 2020:33301772}" "" "c.6282+1G>C p.(?)" "" "Unknown" "" "" "0" "" "" "g.94001857C>G" "" "pathogenic (recessive)" ""
"0000778590" "0" "70" "1" "94577118" "94577118" "subst" "0" "01695" "ABCA4_000185" "g.94577118C>T" "" "{PMID:Sun 2020:33301772}" "" "c.178G>A p.(Ala60Thr)" "" "Unknown" "" "" "0" "" "" "g.94111562C>T" "" "likely pathogenic (recessive)" ""
"0000778591" "0" "70" "1" "94463583" "94463583" "subst" "8.12183E-6" "01695" "ABCA4_000806" "g.94463583A>G" "" "{PMID:Sun 2020:33301772}" "" "c.6563T>C p.(Phe2188Ser)" "" "Unknown" "" "" "0" "" "" "g.93998027A>G" "" "likely pathogenic (recessive)" ""
"0000778592" "21" "90" "1" "94471026" "94471026" "subst" "1.21925E-5" "01695" "ABCA4_000791" "g.94471026G>A" "" "{PMID:Sun 2020:33301772}" "" "c.6118C>T p.(Arg2040*)" "" "Unknown" "" "" "0" "" "" "g.94005470G>A" "" "pathogenic (recessive)" ""
"0000778593" "0" "90" "1" "94467413" "94467413" "subst" "8.12612E-6" "01695" "ABCA4_000131" "g.94467413C>G" "" "{PMID:Sun 2020:33301772}" "" "c.6282+1G>C p.(?)" "" "Unknown" "" "" "0" "" "" "g.94001857C>G" "" "pathogenic (recessive)" ""
"0000778594" "11" "70" "1" "94506923" "94506923" "subst" "2.43657E-5" "01695" "ABCA4_000012" "g.94506923C>T" "" "{PMID:Sun 2020:33301772}" "" "c.3364G>A p.(Glu1122Lys)" "" "Unknown" "" "" "0" "" "" "g.94041367C>T" "" "likely pathogenic (recessive)" ""
"0000778595" "0" "90" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Sun 2020:33301772}" "" "c.2894A>G p.(Asn965Ser)" "" "Unknown" "" "" "0" "" "" "g.94046943T>C" "" "pathogenic (recessive)" ""
"0000778596" "0" "70" "1" "94508976" "94508976" "subst" "1.21906E-5" "01695" "ABCA4_000655" "g.94508976C>T" "" "{PMID:Sun 2020:33301772}" "" "c.3106G>A p.(Glu1036Lys)" "" "Unknown" "" "" "0" "" "" "g.94043420C>T" "" "likely pathogenic (recessive)" ""
"0000778597" "0" "90" "1" "94487269" "94487269" "subst" "0" "01695" "ABCA4_001755" "g.94487269C>T" "" "{PMID:Sun 2020:33301772}" "" "c.4775G>A p.(Gly1592Asp)" "" "Unknown" "" "" "0" "" "" "g.94021713C>T" "" "pathogenic (recessive)" ""
"0000778598" "0" "90" "1" "94502907" "94502907" "subst" "0" "01695" "ABCA4_001883" "g.94502907C>G" "" "{PMID:Sun 2020:33301772}" "" "c.3608-1G>C p.(?)" "" "Unknown" "" "" "0" "" "" "g.94037351C>G" "" "pathogenic (recessive)" ""
"0000778599" "0" "70" "1" "94490567" "94490567" "subst" "5.68528E-5" "01695" "ABCA4_000026" "g.94490567G>A" "" "{PMID:Sun 2020:33301772}" "" "c.4577C>T p.(Thr1526Met)" "" "Unknown" "" "" "0" "" "" "g.94025011G>A" "" "likely pathogenic (recessive)" ""
"0000778600" "0" "90" "1" "94514433" "94514475" "del" "0" "01695" "ABCA4_001993" "g.94514433_94514475del" "" "{PMID:Sun 2020:33301772}" "" "c.2694_2736del p.(Pro899Tyrfs*19)" "" "Unknown" "" "" "0" "" "" "g.94048877_94048919del" "" "pathogenic (recessive)" ""
"0000778601" "0" "50" "1" "94466482" "94466482" "subst" "0" "01695" "ABCA4_000829" "g.94466482A>T" "" "{PMID:Sun 2020:33301772}" "" "c.6389T>A p.(Met2130Lys)" "" "Unknown" "" "" "0" "" "" "g.94000926A>T" "" "VUS" ""
"0000778602" "0" "70" "1" "94463583" "94463583" "subst" "8.12183E-6" "01695" "ABCA4_000806" "g.94463583A>G" "" "{PMID:Sun 2020:33301772}" "" "c.6563T>C p.(Phe2188Ser)" "" "Unknown" "" "" "0" "" "" "g.93998027A>G" "" "likely pathogenic (recessive)" ""
"0000778603" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Sun 2020:33301772}" "" "c.1804C>T p.(Arg602Trp)" "" "Unknown" "" "" "0" "" "" "g.94062710G>A" "" "pathogenic (recessive)" ""
"0000778604" "0" "90" "1" "94481304" "94481305" "del" "0" "01695" "ABCA4_000451" "g.94481304_94481305del" "" "{PMID:Sun 2020:33301772}" "" "c.5302_5203del(;)5593C>T p.[(Leu1768Alafs*18)(;)(His1865Tyr)]" "" "Unknown" "" "" "0" "" "" "g.94015748_94015749del" "" "pathogenic (recessive)" ""
"0000778605" "0" "70" "1" "94476477" "94476477" "subst" "0.000125969" "01695" "ABCA4_001099" "g.94476477G>A" "" "{PMID:Sun 2020:33301772}" "" "c.5302_5203del(;)5593C>T p.[(Leu1768Alafs*18)(;)(His1865Tyr)]" "" "Unknown" "" "" "0" "" "" "g.94010921G>A" "" "likely pathogenic (recessive)" ""
"0000778606" "0" "90" "1" "94528251" "94528251" "subst" "2.84824E-5" "01695" "ABCA4_000281" "g.94528251C>T" "" "{PMID:Sun 2020:33301772}" "" "c.1819G>A p.(Gly607Arg)" "" "Unknown" "" "" "0" "" "" "g.94062695C>T" "" "pathogenic (recessive)" ""
"0000778607" "0" "90" "1" "94508433" "94508433" "subst" "8.12209E-6" "01695" "ABCA4_000151" "g.94508433G>A" "" "{PMID:Sun 2020:33301772}" "" "c.3212C>T p.(Ser1071Leu)" "" "Unknown" "" "" "0" "" "" "g.94042877G>A" "" "pathogenic (recessive)" ""
"0000778608" "0" "70" "1" "94466627" "94466627" "subst" "4.06408E-6" "01695" "ABCA4_000867" "g.94466627C>T" "" "{PMID:Sun 2020:33301772}" "" "c.6317G>A p.(Arg2106His)" "" "Unknown" "" "" "0" "" "" "g.94001071C>T" "" "likely pathogenic (recessive)" ""
"0000778609" "0" "90" "1" "94495009" "94495009" "del" "0" "01695" "ABCA4_000534" "g.94495009del" "" "{PMID:Sun 2020:33301772}" "" "c.4537delC p.(Gln1513Argfs*13)" "" "Unknown" "" "" "0" "" "" "g.94029453del" "" "pathogenic (recessive)" ""
"0000778610" "0" "90" "1" "94528668" "94528668" "subst" "0" "01695" "ABCA4_001313" "g.94528668C>T" "" "{PMID:Sun 2020:33301772}" "" "c.1760G>A p.(Arg587Lys)" "" "Unknown" "" "" "0" "" "" "g.94063112C>T" "" "pathogenic (recessive)" ""
"0000778611" "0" "70" "1" "94520870" "94520870" "subst" "0" "01695" "ABCA4_001375" "g.94520870C>A" "" "{PMID:Sun 2020:33301772}" "" "c.2384G>T p.(Ser795Ile)" "" "Unknown" "" "" "0" "" "" "g.94055314C>A" "" "likely pathogenic (recessive)" ""
"0000778612" "0" "70" "1" "94471094" "94471094" "subst" "0" "01695" "ABCA4_001629" "g.94471094C>T" "" "{PMID:Sun 2020:33301772}" "" "c.6050G>A p.(Cys2017Tyr)" "" "Unknown" "" "" "0" "" "" "g.94005538C>T" "" "likely pathogenic (recessive)" ""
"0000778613" "0" "50" "1" "94509011" "94509011" "subst" "0" "01695" "ABCA4_000657" "g.94509011A>G" "" "{PMID:Sun 2020:33301772}" "" "c.3071T>C p.(Met1024Thr)" "" "Unknown" "" "" "0" "" "" "g.94043455A>G" "" "VUS" ""
"0000778614" "0" "50" "1" "94467506" "94467506" "subst" "3.24913E-5" "01695" "ABCA4_000785" "g.94467506C>T" "" "{PMID:Sun 2020:33301772}" "" "c.6190G>A p.(Ala2064Thr)" "" "Unknown" "" "" "0" "" "" "g.94001950C>T" "" "VUS" ""
"0000778615" "10" "50" "1" "94466655" "94466655" "subst" "0" "01695" "ABCA4_000842" "g.94466655G>A" "" "{PMID:Sun 2020:33301772}" "" "c.6289C>T p.(Pro2097Ser)" "" "Unknown" "" "" "0" "" "" "g.94001099G>A" "" "VUS" ""
"0000778616" "0" "90" "1" "94526291" "94526291" "del" "0" "01695" "ABCA4_002062" "g.94526291del" "" "{PMID:Sun 2020:33301772}" "" "c.1964delT p.(Phe655Serfs*15)" "" "Unknown" "" "" "0" "" "" "g.94060735del" "" "pathogenic (recessive)" ""
"0000778617" "0" "70" "1" "94463583" "94463583" "subst" "8.12183E-6" "01695" "ABCA4_000806" "g.94463583A>G" "" "{PMID:Sun 2020:33301772}" "" "c.6563T>C p.(Phe2188Ser)" "" "Unknown" "" "" "0" "" "" "g.93998027A>G" "" "likely pathogenic (recessive)" ""
"0000778618" "0" "70" "1" "94463648" "94463648" "subst" "0.000162447" "01695" "ABCA4_001373" "g.94463648G>C" "" "{PMID:Sun 2020:33301772}" "" "c.6498C>G p.(Ile2166Met)" "" "Unknown" "" "" "0" "" "" "g.93998092G>C" "" "likely pathogenic (recessive)" ""
"0000778619" "3" "50" "1" "94544208" "94544208" "subst" "0.000158364" "01695" "ABCA4_000320" "g.94544208C>T" "" "{PMID:Sun 2020:33301772}" "" "c.[5929G>A;1294G>A] p.[Gly1977Ser;Glu432Lys]" "" "Unknown" "" "" "0" "" "" "g.94078652C>T" "" "VUS" ""
"0000778620" "11" "70" "1" "94508892" "94508892" "subst" "0" "01695" "ABCA4_001378" "g.94508892C>G" "" "{PMID:Sun 2020:33301772}" "" "c.3190G>C p.(Gly1064Arg)" "" "Unknown" "" "" "0" "" "" "g.94043336C>G" "" "likely pathogenic (recessive)" ""
"0000778621" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Sun 2020:33301772}" "" "c.1804C>T p.(Arg602Trp)" "" "Unknown" "" "" "0" "" "" "g.94062710G>A" "" "pathogenic (recessive)" ""
"0000778622" "0" "70" "1" "94546099" "94546099" "subst" "0" "01695" "ABCA4_001389" "g.94546099T>C" "" "{PMID:Sun 2020:33301772}" "" "c.1034A>G p.(Tyr345Cys)" "" "Unknown" "" "" "0" "" "" "g.94080543T>C" "" "likely pathogenic (recessive)" ""
"0000778623" "0" "70" "1" "94490586" "94490586" "subst" "0" "01695" "ABCA4_001792" "g.94490586C>T" "" "{PMID:Sun 2020:33301772}" "" "c.4558G>A p.(Glu1520Lys)" "" "Unknown" "" "" "0" "" "" "g.94025030C>T" "" "likely pathogenic (recessive)" ""
"0000778624" "0" "90" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Sun 2020:33301772}" "" "c.2894A>G p.(Asn965Ser)" "" "Unknown" "" "" "0" "" "" "g.94046943T>C" "" "pathogenic (recessive)" ""
"0000778625" "0" "90" "1" "94461664" "94461664" "subst" "4.06841E-6" "01695" "ABCA4_000860" "g.94461664C>T" "" "{PMID:Sun 2020:33301772}" "" "c.6816+1G>A p.(?)" "" "Unknown" "" "" "0" "" "" "g.93996108C>T" "" "pathogenic (recessive)" ""
"0000778626" "0" "70" "1" "94487505" "94487505" "subst" "4.06349E-6" "01695" "ABCA4_000507" "g.94487505T>C" "" "{PMID:Sun 2020:33301772}" "" "c.4670A>G p.(Tyr1557Cys)" "" "Unknown" "" "" "0" "" "" "g.94021949T>C" "" "likely pathogenic (recessive)" ""
"0000778627" "0" "50" "1" "94577132" "94577132" "subst" "0" "01695" "ABCA4_000239" "g.94577132T>C" "" "{PMID:Sun 2020:33301772}" "" "c.164A>G p.(His55Arg)" "" "Unknown" "" "" "0" "" "" "g.94111576T>C" "" "VUS" ""
"0000778628" "0" "70" "1" "94528280" "94528280" "subst" "0" "01695" "ABCA4_002083" "g.94528280G>A" "" "{PMID:Sun 2020:33301772}" "" "c.1790C>T p.(Pro597Leu)" "" "Unknown" "" "" "0" "" "" "g.94062724G>A" "" "likely pathogenic (recessive)" ""
"0000778629" "0" "70" "1" "94586549" "94586549" "subst" "0" "01695" "ABCA4_001329" "g.94586549C>G" "" "{PMID:Sun 2020:33301772}" "" "c.53G>C p.(Arg18Pro)" "" "Unknown" "" "" "0" "" "" "g.94120993C>G" "" "likely pathogenic (recessive)" ""
"0000778630" "0" "50" "1" "94466655" "94466655" "subst" "0" "01695" "ABCA4_000842" "g.94466655G>A" "" "{PMID:Sun 2020:33301772}" "" "c.6289C>T p.(Pro2097Ser)" "" "Unknown" "" "" "0" "" "" "g.94001099G>A" "" "VUS" ""
"0000778631" "0" "90" "1" "94526296" "94526296" "subst" "1.64555E-5" "01695" "ABCA4_000768" "g.94526296G>A" "" "{PMID:Sun 2020:33301772}" "" "c.1957C>T p.(Arg653Cys)" "" "Unknown" "" "" "0" "" "" "g.94060740G>A" "" "pathogenic (recessive)" ""
"0000778632" "0" "90" "1" "94467500" "94467500" "del" "0" "01695" "ABCA4_000784" "g.94467500del" "" "{PMID:Sun 2020:33301772}" "" "c.6196delT p.(Cys2066Alafs*49)" "" "Unknown" "" "" "0" "" "" "g.94001944del" "" "pathogenic (recessive)" ""
"0000778633" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sun 2020:33301772}" "" "c.5882G>A p.(Gly1961Glu)" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000778634" "0" "90" "1" "94520830" "94520830" "subst" "0" "01695" "ABCA4_000727" "g.94520830G>C" "" "{PMID:Sun 2020:33301772}" "" "c.2424C>G p.(Tyr808*)" "" "Unknown" "" "" "0" "" "" "g.94055274G>C" "" "pathogenic (recessive)" ""
"0000778635" "0" "90" "1" "94508947" "94508948" "ins" "0" "01695" "ABCA4_001379" "g.94508947_94508948insT" "" "{PMID:Sun 2020:33301772}" "" "c.3134_3135insA p.(Met1045Ilefs*13)" "" "Unknown" "" "" "0" "" "" "g.94043391_94043392insT" "" "pathogenic (recessive)" ""
"0000778636" "0" "90" "1" "94528868" "94528868" "del" "0" "01695" "ABCA4_000304" "g.94528868del" "" "{PMID:Sun 2020:33301772}" "" "c.1561delG p.(Val521Serfs*47)" "" "Unknown" "" "" "0" "" "" "g.94063312del" "" "pathogenic (recessive)" ""
"0000778637" "0" "70" "1" "94546150" "94546150" "subst" "4.06828E-6" "01695" "ABCA4_000346" "g.94546150T>A" "" "{PMID:Sun 2020:33301772}" "" "c.983A>T p.(Glu328Val)" "" "Unknown" "" "" "0" "" "" "g.94080594T>A" "" "likely pathogenic (recessive)" ""
"0000778638" "0" "70" "1" "94487427" "94487427" "subst" "8.12176E-6" "01695" "ABCA4_001339" "g.94487427A>G" "" "{PMID:Sun 2020:33301772}" "" "c.4748T>C p.(Leu1583Pro)" "" "Unknown" "" "" "0" "" "" "g.94021871A>G" "" "likely pathogenic (recessive)" ""
"0000778639" "0" "90" "1" "94480098" "94480098" "subst" "4.06081E-6" "01695" "ABCA4_001366" "g.94480098C>G" "" "{PMID:Sun 2020:33301772}" "" "c.5460+1G>C p.(?)" "" "Unknown" "" "" "0" "" "" "g.94014542C>G" "" "pathogenic (recessive)" ""
"0000778640" "0" "90" "1" "94520830" "94520830" "subst" "0" "01695" "ABCA4_000727" "g.94520830G>C" "" "{PMID:Sun 2020:33301772}" "" "c.2424C>G p.(Tyr808*)" "" "Unknown" "" "" "0" "" "" "g.94055274G>C" "" "pathogenic (recessive)" ""
"0000778641" "0" "90" "1" "94546248" "94546248" "del" "2.03666E-5" "01695" "ABCA4_000352" "g.94546248del" "" "{PMID:Sun 2020:33301772}" "" "c.885delC p.(Leu296Cysfs*4)" "" "Unknown" "" "" "0" "" "" "g.94080692del" "" "pathogenic (recessive)" ""
"0000778642" "0" "70" "1" "94512485" "94512485" "subst" "0" "01695" "ABCA4_001370" "g.94512485T>C" "" "{PMID:Sun 2020:33301772}" "" "c.2908A>G p.(Thr970Ala)" "" "Unknown" "" "" "0" "" "" "g.94046929T>C" "" "likely pathogenic (recessive)" ""
"0000778643" "1" "70" "1" "94473808" "94473808" "subst" "8.52861E-5" "01695" "ABCA4_000196" "g.94473808C>T" "" "{PMID:Sun 2020:33301772}" "" "c.[1609C>T;5881G>A] p.[Arg537Cys;Gly1961Arg]" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008252C>T" "" "likely pathogenic (recessive)" ""
"0000778644" "0" "50" "1" "94471046" "94471046" "subst" "0" "01695" "ABCA4_000794" "g.94471046A>G" "" "{PMID:Sun 2020:33301772}" "" "c.6098T>C p.(Leu2033Pro)" "" "Unknown" "" "" "0" "" "" "g.94005490A>G" "" "VUS" ""
"0000778645" "0" "50" "1" "94564355" "94564355" "subst" "0.000105612" "01695" "ABCA4_000365" "g.94564355G>A" "" "{PMID:Sun 2020:33301772}" "" "c.763C>T p.(Arg255Cys)" "" "Unknown" "" "" "0" "" "" "g.94098799G>A" "" "VUS" ""
"0000778646" "0" "90" "1" "94509026" "94509026" "subst" "4.06497E-5" "01695" "ABCA4_000660" "g.94509026G>A" "" "{PMID:Sun 2020:33301772}" "" "c.3056C>T p.(Thr1019Met)" "" "Unknown" "" "" "0" "" "" "g.94043470G>A" "" "pathogenic (recessive)" ""
"0000778647" "0" "50" "1" "94466657" "94466657" "subst" "0" "01695" "ABCA4_000844" "g.94466657T>A" "" "{PMID:Sun 2020:33301772}" "" "c.6287A>T p.(Glu2096Val)" "" "Unknown" "" "" "0" "" "" "g.94001101T>A" "" "VUS" ""
"0000778648" "0" "50" "1" "94471025" "94471025" "subst" "0.00031698" "01695" "ABCA4_000096" "g.94471025C>T" "" "{PMID:Sun 2020:33301772}" "" "c.6119G>A p.(Arg2040Gln)" "" "Unknown" "" "" "0" "" "" "g.94005469C>T" "" "VUS" ""
"0000778649" "0" "70" "1" "94463583" "94463583" "subst" "8.12183E-6" "01695" "ABCA4_000806" "g.94463583A>G" "" "{PMID:Sun 2020:33301772}" "" "c.6563T>C p.(Phe2188Ser)" "" "Unknown" "" "" "0" "" "" "g.93998027A>G" "" "likely pathogenic (recessive)" ""
"0000778650" "0" "70" "1" "94526295" "94526295" "subst" "3.69731E-5" "01695" "ABCA4_000114" "g.94526295C>T" "" "{PMID:Sun 2020:33301772}" "" "c.1958G>A p.(Arg653His)" "" "Unknown" "" "" "0" "" "" "g.94060739C>T" "" "likely pathogenic (recessive)" ""
"0000778651" "0" "90" "1" "94506819" "94506819" "subst" "0" "01695" "ABCA4_001426" "g.94506819G>C" "" "{PMID:Sun 2020:33301772}" "" "c.3468C>G p.(Tyr1156*)" "" "Unknown" "" "" "0" "" "" "g.94041263G>C" "" "pathogenic (recessive)" ""
"0000778652" "0" "70" "1" "94544209" "94544209" "subst" "0" "01695" "ABCA4_002132" "g.94544209C>G" "" "{PMID:Sun 2020:33301772}" "" "c.1293G>C p.(Trp431Cys)" "" "Unknown" "" "" "0" "" "" "g.94078653C>G" "" "likely pathogenic (recessive)" ""
"0000778653" "0" "70" "1" "94512523" "94512523" "subst" "0" "01695" "ABCA4_001359" "g.94512523T>G" "" "{PMID:Sun 2020:33301772}" "" "c.2870A>C p.(Gln957Pro)" "" "Unknown" "" "" "0" "" "" "g.94046967T>G" "" "likely pathogenic (recessive)" ""
"0000778654" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Sun 2020:33301772}" "" "c.1804C>T p.(Arg602Trp)" "" "Unknown" "" "" "0" "" "" "g.94062710G>A" "" "pathogenic (recessive)" ""
"0000778655" "0" "70" "1" "94463583" "94463583" "subst" "8.12183E-6" "01695" "ABCA4_000806" "g.94463583A>G" "" "{PMID:Sun 2020:33301772}" "" "c.6563T>C p.(Phe2188Ser)" "" "Unknown" "" "" "0" "" "" "g.93998027A>G" "" "likely pathogenic (recessive)" ""
"0000778656" "0" "90" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Sun 2020:33301772}" "" "c.2894A>G p.(Asn965Ser)" "" "Unknown" "" "" "0" "" "" "g.94046943T>C" "" "pathogenic (recessive)" ""
"0000778657" "0" "70" "1" "94485262" "94485262" "subst" "0" "01695" "ABCA4_001733" "g.94485262G>A" "" "{PMID:Sun 2020:33301772}" "" "c.5072C>T p.(Ser1691Phe)" "" "Unknown" "" "" "0" "" "" "g.94019706G>A" "" "likely pathogenic (recessive)" ""
"0000778658" "0" "70" "1" "94506811" "94506811" "subst" "0" "01695" "ABCA4_001295" "g.94506811A>G" "" "{PMID:Sun 2020:33301772}" "" "c.3476T>C p.(Leu1159Ser)" "" "Unknown" "" "" "0" "" "" "g.94041255A>G" "" "likely pathogenic (recessive)" ""
"0000778659" "0" "90" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Sun 2020:33301772}" "" "c.2894A>G p.(Asn965Ser)" "" "Unknown" "" "" "0" "" "" "g.94046943T>C" "" "pathogenic (recessive)" ""
"0000778660" "0" "70" "1" "94546150" "94546150" "subst" "4.06828E-6" "01695" "ABCA4_000346" "g.94546150T>A" "" "{PMID:Sun 2020:33301772}" "" "c.983A>T p.(Glu328Val)" "" "Unknown" "" "" "0" "" "" "g.94080594T>A" "" "likely pathogenic (recessive)" ""
"0000778661" "0" "90" "1" "94471139" "94471139" "subst" "0" "01695" "ABCA4_001372" "g.94471139C>T" "" "{PMID:Sun 2020:33301772}" "" "c.6006-1G>A p.(?)" "" "Unknown" "" "" "0" "" "" "g.94005583C>T" "" "pathogenic (recessive)" ""
"0000778662" "0" "90" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Sun 2020:33301772}" "" "c.6320G>A p.(Arg2107His)" "" "Unknown" "" "" "0" "" "" "g.94001068C>T" "" "pathogenic (recessive)" ""
"0000778663" "1" "70" "1" "94512548" "94512548" "subst" "0" "01695" "ABCA4_001988" "g.94512548G>C" "" "{PMID:Sun 2020:33301772}" "" "c.[2861A>G; 2845C>G] p.[Tyr954Cys;Leu949Val]" "" "Unknown" "" "" "0" "" "" "g.94046992G>C" "" "likely pathogenic (recessive)" ""
"0000778664" "0" "90" "1" "94528868" "94528868" "del" "0" "01695" "ABCA4_000304" "g.94528868del" "" "{PMID:Sun 2020:33301772}" "" "c.1561delG p.(Val521Serfs*47)" "" "Unknown" "" "" "0" "" "" "g.94063312del" "" "pathogenic (recessive)" ""
"0000778665" "0" "70" "1" "94544885" "94544885" "subst" "0" "01695" "ABCA4_001361" "g.94544885A>G" "" "{PMID:Sun 2020:33301772}" "" "c.1232T>C p.(Leu411Pro)" "" "Unknown" "" "" "0" "" "" "g.94079329A>G" "" "likely pathogenic (recessive)" ""
"0000778666" "0" "70" "1" "94544885" "94544885" "subst" "0" "01695" "ABCA4_001361" "g.94544885A>G" "" "{PMID:Sun 2020:33301772}" "" "c.1232T>C p.(Leu411Pro)" "" "Unknown" "" "" "0" "" "" "g.94079329A>G" "" "likely pathogenic (recessive)" ""
"0000778667" "0" "70" "1" "94463583" "94463583" "subst" "8.12183E-6" "01695" "ABCA4_000806" "g.94463583A>G" "" "{PMID:Sun 2020:33301772}" "" "c.6563T>C p.(Phe2188Ser)" "" "Unknown" "" "" "0" "" "" "g.93998027A>G" "" "likely pathogenic (recessive)" ""
"0000778668" "0" "70" "1" "94463583" "94463583" "subst" "8.12183E-6" "01695" "ABCA4_000806" "g.94463583A>G" "" "{PMID:Sun 2020:33301772}" "" "c.6563T>C p.(Phe2188Ser)" "" "Unknown" "" "" "0" "" "" "g.93998027A>G" "" "likely pathogenic (recessive)" ""
"0000778669" "0" "90" "1" "94502907" "94502907" "subst" "0" "01695" "ABCA4_001883" "g.94502907C>G" "" "{PMID:Sun 2020:33301772}" "" "c.3608-1G>C p.(?)" "" "Unknown" "" "" "0" "" "" "g.94037351C>G" "" "pathogenic (recessive)" ""
"0000778670" "0" "90" "1" "94520830" "94520830" "subst" "0" "01695" "ABCA4_000727" "g.94520830G>C" "" "{PMID:Sun 2020:33301772}" "" "c.2424C>G p.(Tyr808*)" "" "Unknown" "" "" "0" "" "" "g.94055274G>C" "" "pathogenic (recessive)" ""
"0000778671" "0" "90" "1" "94520830" "94520830" "subst" "0" "01695" "ABCA4_000727" "g.94520830G>C" "" "{PMID:Sun 2020:33301772}" "" "c.2424C>G p.(Tyr808*)" "" "Unknown" "" "" "0" "" "" "g.94055274G>C" "" "pathogenic (recessive)" ""
"0000778672" "0" "70" "1" "94543269" "94543269" "subst" "0.000179087" "01695" "ABCA4_000307" "g.94543269G>A" "" "{PMID:Sun 2020:33301772}" "" "c.1531C>T p.(Arg511Cys)" "" "Unknown" "" "" "0" "" "" "g.94077713G>A" "" "likely pathogenic (recessive)" ""
"0000778673" "0" "90" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Sun 2020:33301772}" "" "c.2894A>G p.(Asn965Ser)" "" "Unknown" "" "" "0" "" "" "g.94046943T>C" "" "pathogenic (recessive)" ""
"0000778674" "0" "70" "1" "94528178" "94528178" "subst" "4.06666E-6" "01695" "ABCA4_001312" "g.94528178C>A" "" "{PMID:Sun 2020:33301772}" "" "c.1892G>T p.(Gly631Val)" "" "Unknown" "" "" "0" "" "" "g.94062622C>A" "" "likely pathogenic (recessive)" ""
"0000778675" "0" "70" "1" "94508892" "94508892" "subst" "0" "01695" "ABCA4_001378" "g.94508892C>G" "" "{PMID:Sun 2020:33301772}" "" "c.3190G>C p.(Gly1064Arg)" "" "Unknown" "" "" "0" "" "" "g.94043336C>G" "" "likely pathogenic (recessive)" ""
"0000778676" "0" "70" "1" "94520781" "94520781" "subst" "8.53867E-5" "01695" "ABCA4_001377" "g.94520781C>T" "" "{PMID:Sun 2020:33301772}" "" "c.2473G>A p.(Gly825Arg)" "" "Unknown" "" "" "0" "" "" "g.94055225C>T" "" "likely pathogenic (recessive)" ""
"0000778677" "0" "90" "1" "94467413" "94467413" "subst" "8.12612E-6" "01695" "ABCA4_000131" "g.94467413C>G" "" "{PMID:Sun 2020:33301772}" "" "c.6282+1G>C p.(?)" "" "Unknown" "" "" "0" "" "" "g.94001857C>G" "" "pathogenic (recessive)" ""
"0000778678" "10" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Ibanez 2020:33369172}" "" "c.4139 C > T, (p.Pro1380Leu) [PU]" "" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000778679" "21" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Ibanez 2020:33369172}" "" "c.3113 C > T, (p.Ala1038Val) [M]" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000778680" "21" "70" "1" "94463448" "94463448" "subst" "0" "01695" "ABCA4_001564" "g.94463448T>A" "" "{PMID:Ibanez 2020:33369172}" "" "c.6698A > T, (p.Glu2233Val) [M]" "" "Unknown" "" "" "0" "" "" "g.93997892T>A" "" "likely pathogenic (recessive)" ""
"0000778681" "21" "90" "1" "94577046" "94577049" "dup" "0" "01695" "ABCA4_000227" "g.94577046_94577049dup" "" "{PMID:Ibanez 2020:33369172}" "" "c.247_250dupCAAA (p.Ser84fs) [M]" "" "Unknown" "" "" "0" "" "" "g.94111490_94111493dup" "" "pathogenic (recessive)" ""
"0000778682" "0" "50" "1" "94461770" "94461770" "subst" "0.000816533" "01695" "ABCA4_000952" "g.94461770C>T" "" "Prevention Genetics" "" "c.6730-19G>A Intronic het" "" "Unknown" "" "" "0" "" "" "g.93996214C>T" "" "VUS" ""
"0000778683" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "Prevention Genetics" "" "c.2588G>C p.Gly863Ala het" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000778684" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "Prevention Genetics" "" "c.5603A>T p.Asn1868Ile het" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000778685" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "Prevention Genetics" "" "c.4139C>T p.Pro1380Leu het" "" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000778686" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "Prevention Genetics" "" "c.5603A>T p.Asn1868Ile het" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000778687" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "Prevention Genetics" "" "c.5603A>T p.Asn1868Ile" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000778688" "0" "50" "1" "94546265" "94546265" "subst" "2.04063E-5" "01695" "ABCA4_000355" "g.94546265G>A" "" "Prevention Genetics" "" "c.868C>T p.Arg290Trp het" "" "Unknown" "" "" "0" "" "" "g.94080709G>A" "" "VUS" ""
"0000778689" "0" "50" "1" "94528359" "94528359" "subst" "0.014173" "01695" "ABCA4_002085" "g.94528359C>T" "" "Prevention Genetics" "" "c.1761-50G>A Intronic het; c.5603A>T p.Asn1868Ile het" "" "Unknown" "" "" "0" "" "" "g.94062803C>T" "" "VUS" ""
"0000778690" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "Prevention Genetics" "" "c.1761-50G>A Intronic het; c.5603A>T p.Asn1868Ile het" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000778691" "0" "70" "1" "94508341" "94508341" "subst" "1.21857E-5" "01695" "ABCA4_001298" "g.94508341C>A" "" "Prevention Genetics" "" "c.3304G>T p.Asp1102Tyr het" "" "Unknown" "" "" "0" "" "" "g.94042785C>A" "" "likely pathogenic (recessive)" ""
"0000778692" "0" "90" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "" "Prevention Genetics" "" "c.6320G>A p.Arg2107His het" "" "Unknown" "" "" "0" "" "" "g.94001068C>T" "" "pathogenic (recessive)" ""
"0000778693" "0" "70" "1" "94546115" "94546115" "subst" "0" "01695" "ABCA4_000984" "g.94546115A>G" "" "Prevention Genetics" "" "c.1018T>C p.Tyr340His het" "" "Unknown" "" "" "0" "" "" "g.94080559A>G" "" "likely pathogenic (recessive)" ""
"0000778694" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "Prevention Genetics" "" "c.5603A>T p.Asn1868Ile het" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000778695" "0" "70" "1" "94466422" "94466422" "subst" "2.43651E-5" "01695" "ABCA4_000817" "g.94466422C>T" "" "Prevention Genetics" "" "c.6449G>A p.Cys2150Tyr het" "" "Unknown" "" "" "0" "" "" "g.94000866C>T" "" "likely pathogenic (recessive)" ""
"0000778696" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "Prevention Genetics" "" "c.5603A>T p.Asn1868Ile het" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000778697" "0" "70" "1" "94497393" "94497393" "subst" "2.04188E-5" "01695" "ABCA4_000578" "g.94497393C>T" "" "Prevention Genetics" "" "c.4069G>A p.Ala1357Thr het" "" "Unknown" "" "" "0" "" "" "g.94031837C>T" "" "likely pathogenic (recessive)" ""
"0000778698" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "Prevention Genetics" "" "c.5603A>T p.Asn1868Ile het" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000778699" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "Prevention Genetics" "" "c.5714+5G>A Intronic het" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000778700" "0" "30" "1" "94463396" "94463396" "subst" "0.00599713" "01695" "ABCA4_000139" "g.94463396G>A" "" "Prevention Genetics" "" "c.6729+21C>T Intronic het" "" "Unknown" "" "" "0" "" "" "g.93997840G>A" "" "likely benign" ""
"0000778701" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "Prevention Genetics" "" "c.5882G>A p.Gly1961Glu het" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000778702" "0" "30" "1" "94463396" "94463396" "subst" "0.00599713" "01695" "ABCA4_000139" "g.94463396G>A" "" "Prevention Genetics" "" "c.6729+21C>T Intronic het" "" "Unknown" "" "" "0" "" "" "g.93997840G>A" "" "likely benign" ""
"0000778703" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "Prevention Genetics" "" "c.2588G>C p.Gly863Ala het" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000778704" "0" "50" "1" "94505624" "94505624" "subst" "0" "01695" "ABCA4_001889" "g.94505624G>T" "" "Prevention Genetics" "" "c.3582C>A p.Asp1194Glu het; c.5603A>T p.Asn1868Ile het" "" "Unknown" "" "" "0" "" "" "g.94040068G>T" "" "VUS" ""
"0000778705" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "Prevention Genetics" "" "c.3582C>A p.Asp1194Glu het; c.5603A>T p.Asn1868Ile het" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000778706" "0" "90" "1" "94466456" "94466456" "subst" "8.1217E-6" "01695" "ABCA4_000181" "g.94466456G>A" "" "Prevention Genetics" "" "c.6415C>T p.Arg2139Trp het" "" "Unknown" "" "" "0" "" "" "g.94000900G>A" "" "pathogenic (recessive)" ""
"0000778707" "0" "90" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "" "Prevention Genetics" "" "c.6320G>A p.Arg2107His het" "" "Unknown" "" "" "0" "" "" "g.94001068C>T" "" "pathogenic (recessive)" ""
"0000778708" "0" "90" "1" "94508386" "94508386" "subst" "1.62443E-5" "01695" "ABCA4_000642" "g.94508386C>T" "" "Prevention Genetics" "" "c.3259G>A p.Glu1087Lys het" "" "Unknown" "" "" "0" "" "" "g.94042830C>T" "" "pathogenic (recessive)" ""
"0000778709" "0" "30" "1" "94495040" "94495040" "subst" "0" "01695" "ABCA4_001808" "g.94495040T>C" "" "Prevention Genetics" "" "c.4500A>G p.Pro150Pro het" "" "Unknown" "" "" "0" "" "" "g.94029484T>C" "" "likely benign" ""
"0000778710" "0" "70" "1" "94520793" "94520793" "subst" "8.13292E-6" "01695" "ABCA4_000723" "g.94520793A>T" "" "Prevention Genetics" "" "c.2461T>A p.Trp821Arg het" "" "Unknown" "" "" "0" "" "" "g.94055237A>T" "" "likely pathogenic (recessive)" ""
"0000778711" "0" "30" "1" "94463396" "94463396" "subst" "0.00599713" "01695" "ABCA4_000139" "g.94463396G>A" "" "Prevention Genetics" "" "c.6729+21C>T Intronic het" "" "Unknown" "" "" "0" "" "" "g.93997840G>A" "" "likely benign" ""
"0000778712" "0" "90" "1" "94473278" "94473278" "del" "3.25908E-5" "01695" "ABCA4_000392" "g.94473278del" "" "Prevention Genetics" "" "c.5917delG p.Val1973* het" "" "Unknown" "" "" "0" "" "" "g.94007722del" "" "pathogenic (recessive)" ""
"0000778713" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "Prevention Genetics" "" "c.5714+5G>A Intronic het" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000778714" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "Prevention Genetics" "" "c.5603A>T p.Asn1868Ile het" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000778715" "0" "70" "1" "94528713" "94528713" "subst" "4.87381E-5" "01695" "ABCA4_000072" "g.94528713C>T" "" "Prevention Genetics" "" "c.1715G>A p.Arg572Gln het" "" "Unknown" "" "" "0" "" "" "g.94063157C>T" "" "likely pathogenic (recessive)" ""
"0000778716" "0" "50" "1" "94481401" "94481401" "subst" "4.09199E-6" "01695" "ABCA4_000460" "g.94481401A>G" "" "Prevention Genetics" "" "c.5206T>C p.Ser1736Pro het; c.5603A>T p.Asn1868Ile het" "" "Unknown" "" "" "0" "" "" "g.94015845A>G" "" "VUS" ""
"0000778717" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "Prevention Genetics" "" "c.5206T>C p.Ser1736Pro het; c.5603A>T p.Asn1868Ile het" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000778718" "0" "50" "1" "94487490" "94487490" "subst" "0.00122268" "01695" "ABCA4_000506" "g.94487490A>G" "" "Prevention Genetics" "" "c.4685T>C p.Ile1562Thr het" "" "Unknown" "" "" "0" "" "" "g.94021934A>G" "" "VUS" ""
"0000778719" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "Prevention Genetics" "" "c.5882G>A p.Gly1961Glu het" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000778720" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "Prevention Genetics" "" "c.1622T>C p.Leu541Pro het" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000778721" "0" "70" "1" "94496547" "94496547" "subst" "1.21904E-5" "01695" "ABCA4_000560" "g.94496547C>T" "" "Prevention Genetics" "" "c.4253+5G>A Intronic het" "" "Unknown" "" "" "0" "" "" "g.94030991C>T" "" "likely pathogenic (recessive)" ""
"0000778722" "0" "70" "1" "94512478" "94512478" "subst" "3.65871E-5" "01695" "ABCA4_000678" "g.94512478G>T" "" "Prevention Genetics" "" "c.2915C>A p.Thr972Asn het" "" "Unknown" "" "" "0" "" "" "g.94046922G>T" "" "likely pathogenic (recessive)" ""
"0000778723" "0" "70" "1" "94517233" "94517233" "subst" "4.06161E-6" "01695" "ABCA4_000706" "g.94517233G>A" "" "Prevention Genetics" "" "c.2609C>T p.Pro870Leu het" "" "Unknown" "" "" "0" "" "" "g.94051677G>A" "" "likely pathogenic (recessive)" ""
"0000778724" "0" "90" "1" "94568577" "94568577" "del" "0" "01695" "ABCA4_000201" "g.94568577del" "" "Prevention Genetics" "" "c.564delA p.Glu189Serfs*12 het" "" "Unknown" "" "" "0" "" "" "g.94103021del" "" "pathogenic (recessive)" ""
"0000778725" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "Prevention Genetics" "" "c.5603A>T p.Asn1868Ile" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000778726" "0" "70" "1" "94544235" "94544235" "subst" "0.0001137" "01695" "ABCA4_000939" "g.94544235G>A" "" "Prevention Genetics" "" "c.1267C>T p.His423Tyr het" "" "Unknown" "" "" "0" "" "" "g.94078679G>A" "" "likely pathogenic (recessive)" ""
"0000778727" "0" "70" "1" "94502906" "94502906" "subst" "0.000314086" "01695" "ABCA4_000605" "g.94502906C>T" "" "Prevention Genetics" "" "c.3608G>A p.Gly1203Glu het" "" "Unknown" "" "" "0" "" "" "g.94037350C>T" "" "likely pathogenic (recessive)" ""
"0000778728" "0" "70" "1" "94506953" "94506953" "subst" "0" "01695" "ABCA4_001909" "g.94506953T>C" "" "Prevention Genetics" "" "c.3334A>G p.Thr1112Ala het" "" "Unknown" "" "" "0" "" "" "g.94041397T>C" "" "likely pathogenic (recessive)" ""
"0000778729" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "Prevention Genetics" "" "c.5603A>T p.Asn1868Ile het" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000778730" "0" "70" "1" "94496583" "94496583" "subst" "2.03092E-5" "01695" "ABCA4_000190" "g.94496583A>G" "" "Prevention Genetics" "" "c.4222T>C p.Trp1408Arg het" "" "Unknown" "" "" "0" "" "" "g.94031027A>G" "" "likely pathogenic (recessive)" ""
"0000778731" "0" "90" "1" "94466556" "94466556" "subst" "4.06164E-6" "01695" "ABCA4_000831" "g.94466556G>C" "" "Prevention Genetics" "" "c.6386+2C>G Splicing het" "" "Unknown" "" "" "0" "" "" "g.94001000G>C" "" "pathogenic (recessive)" ""
"0000778732" "0" "50" "1" "94495021" "94495021" "subst" "0.000161713" "01695" "ABCA4_000538" "g.94495021C>T" "" "Prevention Genetics" "" "c.4519G>A p.Gly1507Arg het" "" "Unknown" "" "" "0" "" "" "g.94029465C>T" "" "VUS" ""
"0000778733" "0" "90" "1" "94528810" "94528813" "del" "0" "01695" "ABCA4_002102" "g.94528810_94528813del" "" "Prevention Genetics" "" "c.1619_1622delCTCT p.Ser540Tyrfs*27 het" "" "Unknown" "" "" "0" "" "" "g.94063254_94063257del" "" "pathogenic (recessive)" ""
"0000778734" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "Prevention Genetics" "" "c.1622T>C p.Leu541Pro het" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000778735" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "Prevention Genetics" "" "c.3113C>T p.Ala1038Val het" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000778736" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "Prevention Genetics" "" "c.1622T>C p.Leu541Pro het" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000778737" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "Prevention Genetics" "" "c.5603A>T p.Asn1868Ile het" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
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"0000778739" "0" "90" "1" "94526212" "94526212" "subst" "1.22012E-5" "01695" "ABCA4_000075" "g.94526212G>A" "" "Prevention Genetics" "" "c.2041C>T p.Arg681* het" "" "Unknown" "" "" "0" "" "" "g.94060656G>A" "" "pathogenic (recessive)" ""
"0000778740" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "Prevention Genetics" "" "c.5603A>T p.Asn1868Ile het" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
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"0000778742" "0" "50" "1" "94473287" "94473287" "subst" "0.00293818" "01695" "ABCA4_000395" "g.94473287G>A" "" "Prevention Genetics" "" "c.5908C>T p.Leu1970Phe het" "" "Unknown" "" "" "0" "" "" "g.94007731G>A" "" "VUS" ""
"0000778743" "0" "70" "1" "94463460" "94463460" "subst" "6.90507E-5" "01695" "ABCA4_000799" "g.94463460A>G" "" "Prevention Genetics" "" "c.6686T>C p.Leu2229Pro het" "" "Unknown" "" "" "0" "" "" "g.93997904A>G" "" "likely pathogenic (recessive)" ""
"0000778744" "0" "50" "1" "94467548" "94467548" "subst" "0.00295661" "01695" "ABCA4_000788" "g.94467548C>G" "" "Prevention Genetics" "" "c.6148G>C p.Val2050Leu het; c.3285C>T p.Tyr1095Tyr het" "" "Unknown" "" "" "0" "" "" "g.94001992C>G" "" "VUS" ""
"0000778745" "0" "30" "1" "94508360" "94508360" "subst" "0.000117779" "01695" "ABCA4_001926" "g.94508360G>A" "" "Prevention Genetics" "" "c.6148G>C p.Val2050Leu het; c.3285C>T p.Tyr1095Tyr het" "" "Unknown" "" "" "0" "" "" "g.94042804G>A" "" "likely benign" ""
"0000778746" "0" "90" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "" "Prevention Genetics" "" "c.2894A>G p.Asn965Ser Het" "" "Unknown" "" "" "0" "" "" "g.94046943T>C" "" "pathogenic (recessive)" ""
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"0000778748" "0" "50" "1" "94544977" "94544977" "subst" "0.000544432" "01695" "ABCA4_000332" "g.94544977A>T" "" "Prevention Genetics" "" "c.1140T>A p.Asn380Lys Het" "" "Unknown" "" "" "0" "" "" "g.94079421A>T" "" "VUS" ""
"0000778749" "0" "50" "1" "94528118" "94528118" "subst" "1.62801E-5" "01695" "ABCA4_002065" "g.94528118G>A" "" "Prevention Genetics" "" "c.1937+15C>T Intronic Het" "" "Unknown" "" "" "0" "" "" "g.94062562G>A" "" "VUS" ""
"0000778750" "0" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "" "Prevention Genetics" "" "c.4469G>A p.Cys1490Tyr Het" "" "Unknown" "" "" "0" "" "" "g.94029515C>T" "" "likely pathogenic (recessive)" ""
"0000778751" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "Prevention Genetics" "" "c.5603A>T p.Asn1868Ile Het" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000778752" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "Prevention Genetics" "" "c.5882G>A p.Gly1961Glu Het" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000778753" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "Prevention Genetics" "" "c.5603A>T p.Asn1868Ile Het" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000778754" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "Prevention Genetics" "" "c.5603A>T p.Asn1868Ile Het" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000778755" "0" "90" "1" "94528164" "94528164" "subst" "2.03336E-5" "01695" "ABCA4_000267" "g.94528164G>A" "" "Prevention Genetics" "" "c.1906C>T p.Gln636* Het" "" "Unknown" "" "" "0" "" "" "g.94062608G>A" "" "pathogenic (recessive)" ""
"0000778756" "0" "50" "1" "94520853" "94520853" "subst" "8.14783E-6" "01695" "ABCA4_000729" "g.94520853C>T" "" "Prevention Genetics" "" "c.2401G>A p.Ala801Thr het" "" "Unknown" "" "" "0" "" "" "g.94055297C>T" "" "VUS" ""
"0000778757" "0" "70" "1" "94480178" "94480178" "subst" "2.43692E-5" "01695" "ABCA4_000005" "g.94480178G>T" "" "Prevention Genetics" "" "c.5381C>A p.Ala1794Asp Het" "" "Unknown" "" "" "0" "" "" "g.94014622G>T" "" "likely pathogenic (recessive)" ""
"0000778758" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "Prevention Genetics" "" "c.3113C>T p.Ala1038Val Het" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000778759" "0" "90" "1" "94488970" "94488970" "subst" "0" "01695" "ABCA4_000516" "g.94488970T>A" "" "Prevention Genetics" "" "c.4639A>T p.Lys1547* het" "" "Unknown" "" "" "0" "" "" "g.94023414T>A" "" "pathogenic (recessive)" ""
"0000778760" "3" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "Prevention Genetics" "" "c.5603A>T p.Asn1868Ile homo" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000778761" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "Prevention Genetics" "" "c.5882G>A p.Gly1961Glu Het" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000778762" "0" "70" "1" "94546048" "94546048" "subst" "0" "01695" "ABCA4_000982" "g.94546048T>C" "" "Prevention Genetics" "" "c.1085A>G p.Tyr362Cys Het" "" "Unknown" "" "" "0" "" "" "g.94080492T>C" "" "likely pathogenic (recessive)" ""
"0000778763" "0" "90" "1" "94509026" "94509026" "subst" "4.06497E-5" "01695" "ABCA4_000660" "g.94509026G>A" "" "Prevention Genetics" "" "c.3056C>T p.Thr1019Met het" "" "Unknown" "" "" "0" "" "" "g.94043470G>A" "" "pathogenic (recessive)" ""
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"0000778765" "0" "70" "1" "94522239" "94522239" "subst" "2.03305E-5" "01695" "ABCA4_000736" "g.94522239A>T" "" "Prevention Genetics" "" "c.2300T>A p.Val767Asp Het" "" "Unknown" "" "" "0" "" "" "g.94056683A>T" "" "likely pathogenic (recessive)" ""
"0000778766" "0" "50" "1" "94484123" "94484123" "subst" "0" "01695" "ABCA4_001722" "g.94484123T>C" "" "Prevention Genetics" "" "c.5196+1015A>G Intronic het" "" "Unknown" "" "" "0" "" "" "g.94018567T>C" "" "VUS" ""
"0000778767" "0" "50" "1" "94483980" "94483980" "subst" "0" "01695" "ABCA4_001720" "g.94483980G>A" "" "Prevention Genetics" "" "c.5196+1158C>T Intronic het" "" "Unknown" "" "" "0" "" "" "g.94018424G>A" "" "VUS" ""
"0000778768" "0" "70" "1" "94508988" "94508988" "subst" "4.06349E-6" "01695" "ABCA4_001952" "g.94508988C>G" "" "Prevention Genetics" "" "c.3094G>C p.Gly1032Arg Het" "" "Unknown" "" "" "0" "" "" "g.94043432C>G" "" "likely pathogenic (recessive)" ""
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"0000778770" "0" "70" "1" "94471055" "94471055" "subst" "0.00035346" "01695" "ABCA4_000029" "g.94471055C>T" "" "Prevention Genetics" "" "c.6089G>A p.Arg2030Gln het" "" "Unknown" "" "" "0" "" "" "g.94005499C>T" "" "likely pathogenic (recessive)" ""
"0000778771" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "Prevention Genetics" "" "c.5882G>A p.Gly1961Glu het" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000778772" "3" "90" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "" "Prevention Genetics" "" "c.6320G>A p.Arg2107His hom" "" "Unknown" "" "" "0" "" "" "g.94001068C>T" "" "pathogenic (recessive)" ""
"0000778773" "0" "50" "1" "94496693" "94496693" "subst" "0.000163035" "01695" "ABCA4_001845" "g.94496693G>A" "" "Prevention Genetics" "" "c.4129-17C>T Intronic het" "" "Unknown" "" "" "0" "" "" "g.94031137G>A" "" "VUS" ""
"0000778774" "0" "70" "1" "94496017" "94496017" "subst" "4.06075E-6" "01695" "ABCA4_000130" "g.94496017A>G" "" "Prevention Genetics" "" "c.4319T>C p.Phe1440Ser het" "" "Unknown" "" "" "0" "" "" "g.94030461A>G" "" "likely pathogenic (recessive)" ""
"0000778775" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "Prevention Genetics" "" "c.5603A>T p.Asn1868Ile het" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000778776" "3" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "Prevention Genetics" "" "c.5603A>T p.Asn1868Ile hom" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000778777" "0" "90" "1" "94528164" "94528164" "subst" "2.03336E-5" "01695" "ABCA4_000267" "g.94528164G>A" "" "Prevention Genetics" "" "c.1906C>T p.Gln636* het" "" "Unknown" "" "" "0" "" "" "g.94062608G>A" "" "pathogenic (recessive)" ""
"0000778778" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "Prevention Genetics" "" "c.5603A>T p.Asn1868Ile het" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000778779" "0" "70" "1" "94485136" "94485136" "dup" "0" "01695" "ABCA4_001724" "g.94485136dup" "" "Prevention Genetics" "" "c.5196+2dupT Splicing Hom" "" "Unknown" "" "" "0" "" "" "g.94019580dup" "" "likely pathogenic (recessive)" ""
"0000778780" "0" "90" "1" "94496571" "94496571" "subst" "4.06174E-6" "01695" "ABCA4_000111" "g.94496571G>A" "" "Prevention Genetics" "" "c.4234C>T p.Gln1412* het" "" "Unknown" "" "" "0" "" "" "g.94031015G>A" "" "pathogenic (recessive)" ""
"0000778781" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "Prevention Genetics" "" "c.5603A>T p.Asn1868Ile het" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000778782" "3" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "Prevention Genetics" "" "c.5603A>T p.Asn1868Ile homo" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
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"0000778784" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "Prevention Genetics" "" "c.5603A>T p.Asn1868Ile het" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000778785" "0" "70" "1" "94480226" "94480226" "subst" "0" "01695" "ABCA4_001699" "g.94480226A>T" "" "Prevention Genetics" "" "c.5333T>A p.Met1778Lys het" "" "Unknown" "" "" "0" "" "" "g.94014670A>T" "" "likely pathogenic (recessive)" ""
"0000778786" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "Prevention Genetics" "" "c.5603A>T p.Asn1868Ile het" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000778787" "0" "70" "1" "94471059" "94471059" "subst" "0" "01695" "ABCA4_001626" "g.94471059C>T" "" "Prevention Genetics" "" "c.6085G>A p.Gly2029Arg het" "" "Unknown" "" "" "0" "" "" "g.94005503C>T" "" "likely pathogenic (recessive)" ""
"0000778788" "0" "90" "1" "94467530" "94467530" "subst" "0" "01695" "ABCA4_001448" "g.94467530T>A" "" "Prevention Genetics" "" "c.6166A>T p.Lys2056* het" "" "Unknown" "" "" "0" "" "" "g.94001974T>A" "" "pathogenic (recessive)" ""
"0000778789" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "Prevention Genetics" "" "c.5603A>T p.Asn1868Ile het" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000778790" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "Prevention Genetics" "" "c.5603A>T p.Asn1868Ile hom" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000778791" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "Prevention Genetics" "" "c.5603A>T p.Asn1868Ile hom" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000778792" "0" "70" "1" "94484001" "94484001" "subst" "0" "01695" "ABCA4_000016" "g.94484001C>T" "" "Prevention Genetics" "" "c.5196+1137G>A Intronic het" "" "Unknown" "" "" "0" "" "" "g.94018445C>T" "" "likely pathogenic (recessive)" ""
"0000778793" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "Prevention Genetics" "" "c.5603A>T p.Asn1868Ile het" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000778794" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "Prevention Genetics" "" "c.5461-10T>C Intronic het" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000778795" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "Prevention Genetics" "" "c.5603A>T p.Asn1868Ile het" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
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"0000778864" "0" "70" "1" "94528818" "94528818" "subst" "0.00205975" "01695" "ABCA4_001239" "g.94528818C>T" "" "Prevention Genetics" "" "c.1610G>A p.Arg537His het" "" "Unknown" "" "" "0" "" "" "g.94063262C>T" "" "likely pathogenic (recessive)" ""
"0000778865" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "Prevention Genetics" "" "c.5603A>T p.Asn1868Ile het" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000778866" "0" "50" "1" "94512602" "94512602" "subst" "0.000369717" "01695" "ABCA4_000052" "g.94512602C>T" "" "Prevention Genetics" "" "c.2791G>A p.Val931Met het" "" "Unknown" "" "" "0" "" "" "g.94047046C>T" "" "VUS" ""
"0000778867" "0" "70" "1" "94470998" "94470998" "subst" "4.06329E-6" "01695" "ABCA4_001616" "g.94470998T>G" "" "Prevention Genetics" "" "c.6146A>C p.Lys2049Thr het" "" "Unknown" "" "" "0" "" "" "g.94005442T>G" "" "likely pathogenic (recessive)" ""
"0000778868" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "Prevention Genetics" "" "c.5603A>T p.Asn1868Ile het" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000778869" "0" "90" "1" "94544185" "94544185" "subst" "8.12137E-6" "01695" "ABCA4_000177" "g.94544185C>T" "" "Prevention Genetics" "" "c.1317G>A p.Trp439* het" "" "Unknown" "" "" "0" "" "" "g.94078629C>T" "" "pathogenic (recessive)" ""
"0000778870" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "Prevention Genetics" "" "c.5603A>T p.Asn1868Ile het" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000778871" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "Prevention Genetics" "" "c.4139C>T p.Pro1380Leu het" "" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000778872" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "Prevention Genetics" "" "c.5714+5G>A Intronic het" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000778873" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "Prevention Genetics" "" "c.5603A>T p.Asn1868Ile het" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000778874" "0" "70" "1" "94471034" "94471034" "subst" "0" "01695" "ABCA4_001621" "g.94471034G>T" "" "Prevention Genetics" "" "c.6110C>A p.Ala2037Asp het" "" "Unknown" "" "" "0" "" "" "g.94005478G>T" "" "likely pathogenic (recessive)" ""
"0000778875" "0" "50" "1" "94502756" "94502756" "subst" "0.000422575" "01695" "ABCA4_000032" "g.94502756G>A" "" "Prevention Genetics" "" "c.3758C>T p.Thr1253Met het" "" "Unknown" "" "" "0" "" "" "g.94037200G>A" "" "VUS" ""
"0000778876" "0" "50" "1" "94473287" "94473287" "subst" "0.00293818" "01695" "ABCA4_000395" "g.94473287G>A" "" "Prevention Genetics" "" "c.5908C>T p.Leu1970Phe het" "" "Unknown" "" "" "0" "" "" "g.94007731G>A" "" "VUS" ""
"0000778877" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "Prevention Genetics" "" "c.1622T>C p.Leu541Pro Het" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000778878" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "Prevention Genetics" "" "c.3113C>T p.Ala1038Val Pathogenic" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000778879" "0" "70" "1" "94476865" "94476865" "subst" "2.03107E-5" "01695" "ABCA4_000430" "g.94476865A>G" "" "Prevention Genetics" "" "c.5537T>C p.Ile1846Thr het" "" "Unknown" "" "" "0" "" "" "g.94011309A>G" "" "likely pathogenic (recessive)" ""
"0000778880" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "Prevention Genetics" "" "c.5603A>T p.Asn1868Ile het" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000778881" "0" "70" "1" "94577093" "94577093" "subst" "0" "01695" "ABCA4_000178" "g.94577093G>C" "" "Prevention Genetics" "" "c.203C>G p.Pro68Leu het" "" "Unknown" "" "" "0" "" "" "g.94111537G>C" "" "likely pathogenic (recessive)" ""
"0000778882" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "Prevention Genetics" "" "c.5603A>T p.Asn1868Ile het" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000778883" "0" "70" "1" "94544126" "94544126" "subst" "0" "01695" "ABCA4_002125" "g.94544126C>T" "" "Prevention Genetics" "" "c.1356+20G>A Intronic het" "" "Unknown" "" "" "0" "" "" "g.94078570C>T" "" "likely pathogenic (recessive)" ""
"0000778884" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "Prevention Genetics" "" "c.5603A>T p.Asn1868Ile het" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000778885" "0" "50" "1" "94471025" "94471025" "subst" "0.00031698" "01695" "ABCA4_000096" "g.94471025C>T" "" "Prevention Genetics" "" "c.6119G>A p.Arg2040Gln het" "" "Unknown" "" "" "0" "" "" "g.94005469C>T" "" "VUS" ""
"0000778886" "0" "70" "1" "94486895" "94486895" "subst" "3.24923E-5" "01695" "ABCA4_000484" "g.94486895C>T" "" "Prevention Genetics" "" "c.4919G>A p.Arg1640Gln Het" "" "Unknown" "" "" "0" "" "" "g.94021339C>T" "" "likely pathogenic (recessive)" ""
"0000778887" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "Prevention Genetics" "" "c.5461-10T>C Intronic Het" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000778888" "3" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "Prevention Genetics" "" "c.5603A>T p.Asn1868Ile HOM" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000778889" "0" "50" "1" "94544167" "94544167" "subst" "8.12269E-6" "01695" "ABCA4_000316" "g.94544167G>C" "" "Prevention Genetics" "" "c.1335C>G p.Ser445Arg Het" "" "Unknown" "" "" "0" "" "" "g.94078611G>C" "" "VUS" ""
"0000778890" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "Prevention Genetics" "" "c.5603A>T p.Asn1868Ile het" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000778891" "0" "70" "1" "94466422" "94466422" "subst" "2.43651E-5" "01695" "ABCA4_000817" "g.94466422C>T" "" "Prevention Genetics" "" "c.6449G>A p.Cys2150Tyr Het" "" "Unknown" "" "" "0" "" "" "g.94000866C>T" "" "likely pathogenic (recessive)" ""
"0000778892" "3" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "Prevention Genetics" "" "c.5882G>A p.Gly1961Glu Hom" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000778893" "0" "50" "1" "94520853" "94520853" "subst" "8.14783E-6" "01695" "ABCA4_000729" "g.94520853C>T" "" "Prevention Genetics" "" "c.2401G>A p.Ala801Thr het" "" "Unknown" "" "" "0" "" "" "g.94055297C>T" "" "VUS" ""
"0000778894" "0" "90" "1" "94496571" "94496571" "subst" "4.06174E-6" "01695" "ABCA4_000111" "g.94496571G>A" "" "Prevention Genetics" "" "c.4234C>T p.Gln1412* het" "" "Unknown" "" "" "0" "" "" "g.94031015G>A" "" "pathogenic (recessive)" ""
"0000778895" "0" "70" "1" "94484001" "94484001" "subst" "0" "01695" "ABCA4_000016" "g.94484001C>T" "" "Prevention Genetics" "" "c.5196+1137G>A Intronic het" "" "Unknown" "" "" "0" "" "" "g.94018445C>T" "" "likely pathogenic (recessive)" ""
"0000778896" "3" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "Prevention Genetics" "" "c.5603A>T p.Asn1868Ile hom" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
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"0000778900" "0" "70" "1" "94564500" "94564500" "subst" "0.00100414" "01695" "ABCA4_000069" "g.94564500G>C" "" "Prevention Genetics" "" "c.618C>G p.Ser206Arg Het" "" "Unknown" "" "" "0" "" "" "g.94098944G>C" "" "likely pathogenic (recessive)" ""
"0000778901" "0" "50" "1" "94471025" "94471025" "subst" "0.00031698" "01695" "ABCA4_000096" "g.94471025C>T" "" "Prevention Genetics" "" "c.6119G>A p.Arg2040Gln Uncertain" "" "Unknown" "" "" "0" "" "" "g.94005469C>T" "" "VUS" ""
"0000778902" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "Prevention Genetics" "" "c.5603A>T p.Asn1868Ile het" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000778903" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "Prevention Genetics" "" "c.5603A>T p.Asn1868Ile het" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000778904" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "Prevention Genetics" "" "c.5603A>T p.Asn1868Ile het" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000778905" "3" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "Prevention Genetics" "" "c.5603A>T p.Asn1868Ile hom" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000778906" "0" "90" "1" "94528714" "94528714" "subst" "0" "01695" "ABCA4_000296" "g.94528714G>A" "" "Prevention Genetics" "" "c.1714C>T p.Arg572* het" "" "Unknown" "" "" "0" "" "" "g.94063158G>A" "" "pathogenic (recessive)" ""
"0000778907" "0" "90" "1" "94508384" "94508384" "subst" "0" "01695" "ABCA4_000641" "g.94508384T>G" "" "Prevention Genetics" "" "c.3261A>C p.Glu1087Asp het" "" "Unknown" "" "" "0" "" "" "g.94042828T>G" "" "pathogenic (recessive)" ""
"0000778908" "0" "50" "1" "94496039" "94496039" "subst" "0.00157963" "01695" "ABCA4_000552" "g.94496039C>T" "" "Prevention Genetics" "" "c.4297G>A p.Val1433Ile het" "" "Unknown" "" "" "0" "" "" "g.94030483C>T" "" "VUS" ""
"0000778909" "0" "70" "1" "94487399" "94487399" "subst" "7.30959E-5" "01695" "ABCA4_000038" "g.94487399T>C" "" "Prevention Genetics" "" "c.4773+3A>G Intronic het" "" "Unknown" "" "" "0" "" "" "g.94021843T>C" "" "likely pathogenic (recessive)" ""
"0000778910" "0" "70" "1" "94484001" "94484001" "subst" "0" "01695" "ABCA4_000016" "g.94484001C>T" "" "Prevention Genetics" "" "c.5196+1137G>A Intronic het" "" "Unknown" "" "" "0" "" "" "g.94018445C>T" "" "likely pathogenic (recessive)" ""
"0000778911" "0" "50" "1" "94526219" "94526219" "subst" "4.06673E-6" "01695" "ABCA4_000759" "g.94526219C>A" "" "Prevention Genetics" "" "c.2034G>T p.Lys678Asn het" "" "Unknown" "" "" "0" "" "" "g.94060663C>A" "" "VUS" ""
"0000778912" "0" "90" "1" "94528128" "94528128" "subst" "0" "01695" "ABCA4_001258" "g.94528128C>T" "" "Prevention Genetics" "" "c.1937+5G>A Intronic Het" "" "Unknown" "" "" "0" "" "" "g.94062572C>T" "" "pathogenic (recessive)" ""
"0000778913" "0" "70" "1" "94484001" "94484001" "subst" "0" "01695" "ABCA4_000016" "g.94484001C>T" "" "Prevention Genetics" "" "c.5196+1137G>A Intronic het" "" "Unknown" "" "" "0" "" "" "g.94018445C>T" "" "likely pathogenic (recessive)" ""
"0000778914" "0" "50" "1" "94528774" "94528774" "subst" "0.00264827" "01695" "ABCA4_000298" "g.94528774C>T" "" "Prevention Genetics" "" "c.1654G>A p.Val552Ile Het" "" "Unknown" "" "" "0" "" "" "g.94063218C>T" "" "VUS" ""
"0000778915" "0" "70" "1" "94506969" "94506969" "subst" "7.31166E-5" "01695" "ABCA4_001914" "g.94506969G>A" "" "Prevention Genetics" "" "c.3329-11C>T Intronic Likely Benign" "" "Unknown" "" "" "0" "" "" "g.94041413G>A" "" "likely pathogenic (recessive)" ""
"0000778916" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "Prevention Genetics" "" "c.5603A>T p.Asn1868Ile het" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000778917" "0" "70" "1" "94564377" "94564377" "subst" "0" "01695" "ABCA4_002177" "g.94564377G>T" "" "Prevention Genetics" "" "c.741C>A p.Asn247Lys het" "" "Unknown" "" "" "0" "" "" "g.94098821G>T" "" "likely pathogenic (recessive)" ""
"0000778918" "0" "90" "1" "94466391" "94466391" "subst" "0" "01695" "ABCA4_000813" "g.94466391C>G" "" "Prevention Genetics" "" "c.6479+1G>C Splicing Het" "" "Unknown" "" "" "0" "" "" "g.94000835C>G" "" "pathogenic (recessive)" ""
"0000778919" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "Prevention Genetics" "" "c.3113C>T p.Ala1038Val Pathogenic" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000778920" "0" "90" "1" "94487486" "94487486" "del" "0" "01695" "ABCA4_001767" "g.94487486del" "" "Prevention Genetics" "" "c.4689delA p.Gly1564Glufs*17 Het" "" "Unknown" "" "" "0" "" "" "g.94021930del" "" "pathogenic (recessive)" ""
"0000778921" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "Prevention Genetics" "" "c.3113C>T p.Ala1038Val het" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000778922" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "Prevention Genetics" "" "c.5603A>T p.Asn1868Ile het" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000778923" "0" "90" "1" "94546047" "94546047" "subst" "0" "01695" "ABCA4_000150" "g.94546047A>T" "" "Prevention Genetics" "" "c.1086T>A p.Tyr362* Het" "" "Unknown" "" "" "0" "" "" "g.94080491A>T" "" "pathogenic (recessive)" ""
"0000778924" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "Prevention Genetics" "" "c.3113C>T p.Ala1038Val Pathogenic" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000778925" "0" "30" "1" "94525509" "94525509" "subst" "0" "01695" "ABCA4_000747" "g.94525509T>C" "" "Prevention Genetics" "" "c.2160+584A>G Intronic Het" "" "Unknown" "" "" "0" "" "" "g.94059953T>C" "" "likely benign" ""
"0000778926" "0" "50" "1" "94508435" "94508435" "subst" "4.06108E-6" "01695" "ABCA4_001938" "g.94508435C>G" "" "Prevention Genetics" "" "c.3210G>C p.Leu1070Leu Likely Benign" "" "Unknown" "" "" "0" "" "" "g.94042879C>G" "" "VUS" ""
"0000778927" "0" "70" "1" "94485279" "94485293" "del" "0" "01695" "ABCA4_000476" "g.94485279_94485293del" "" "Prevention Genetics" "" "c.5044_5058del15 p.Val1682_Val1686del Het" "" "Unknown" "" "" "0" "" "" "g.94019723_94019737del" "" "likely pathogenic (recessive)" ""
"0000778928" "0" "50" "1" "94486888" "94486888" "subst" "3.65548E-5" "01695" "ABCA4_000137" "g.94486888G>C" "" "Prevention Genetics" "" "c.4926C>G p.Ser1642Arg Suspected Pathogenic" "" "Unknown" "" "" "0" "" "" "g.94021332G>C" "" "VUS" ""
"0000778929" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "Prevention Genetics" "" "c.5603A>T p.Asn1868Ile het" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000778930" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "Prevention Genetics" "" "c.5603A>T p.Asn1868Ile het" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000778931" "0" "70" "1" "94484001" "94484001" "subst" "0" "01695" "ABCA4_000016" "g.94484001C>T" "" "Prevention Genetics" "" "c.5196+1137G>A Intronic Het" "" "Unknown" "" "" "0" "" "" "g.94018445C>T" "" "likely pathogenic (recessive)" ""
"0000778932" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "Prevention Genetics" "" "c.5603A>T p.Asn1868Ile HET" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000778933" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "Prevention Genetics" "" "c.5603A>T p.Asn1868Ile Het" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000778934" "0" "50" "1" "94526920" "94526920" "subst" "0" "01695" "ABCA4_002063" "g.94526920G>A" "" "Prevention Genetics" "" "c.1938-605C>T Intronic Het" "" "Unknown" "" "" "0" "" "" "g.94061364G>A" "" "VUS" ""
"0000778935" "0" "90" "1" "94510302" "94510302" "subst" "0" "01695" "ABCA4_000676" "g.94510302T>C" "" "Prevention Genetics" "" "c.2919-2A>G Splicing Het" "" "Unknown" "" "" "0" "" "" "g.94044746T>C" "" "pathogenic (recessive)" ""
"0000778936" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "Prevention Genetics" "" "c.5461-10T>C Intronic het" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000778937" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "Prevention Genetics" "" "c.5603A>T p.Asn1868Ile het" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000778938" "0" "70" "1" "94486925" "94486925" "subst" "0" "01695" "ABCA4_001744" "g.94486925A>G" "" "Prevention Genetics" "" "c.4889T>C p.Phe1630Ser het" "" "Unknown" "" "" "0" "" "" "g.94021369A>G" "" "likely pathogenic (recessive)" ""
"0000778939" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "Prevention Genetics" "" "c.5603A>T p.Asn1868Ile het" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000778940" "0" "70" "1" "94577010" "94577010" "subst" "1.22004E-5" "01695" "ABCA4_000224" "g.94577010T>C" "" "Prevention Genetics" "" "c.286A>G p.Asn96Asp het" "" "Unknown" "" "" "0" "" "" "g.94111454T>C" "" "likely pathogenic (recessive)" ""
"0000778941" "0" "30" "1" "94517266" "94517266" "subst" "0.00217349" "01695" "ABCA4_001057" "g.94517266G>C" "" "Prevention Genetics" "" "c.2588-12C>G Intronic ; c.5835+16T>C Intronic" "" "Unknown" "" "" "0" "" "" "g.94051710G>C" "" "likely benign" ""
"0000778942" "0" "50" "1" "94474291" "94474291" "subst" "3.65473E-5" "01695" "ABCA4_001650" "g.94474291A>G" "" "Prevention Genetics" "" "c.2588-12C>G Intronic ; c.5835+16T>C Intronic" "" "Unknown" "" "" "0" "" "" "g.94008735A>G" "" "VUS" ""
"0000778943" "0" "90" "1" "94520872" "94520872" "subst" "0" "01695" "ABCA4_002033" "g.94520872C>G" "" "Prevention Genetics" "" "c.2383-1G>C Splicing Het" "" "Unknown" "" "" "0" "" "" "g.94055316C>G" "" "pathogenic (recessive)" ""
"0000778944" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "Prevention Genetics" "" "c.5603A>T p.Asn1868Ile Likely Benign" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000778945" "0" "90" "1" "94471056" "94471056" "subst" "2.84398E-5" "01695" "ABCA4_000050" "g.94471056G>A" "" "Prevention Genetics" "" "c.6088C>T p.Arg2030* het" "" "Unknown" "" "" "0" "" "" "g.94005500G>A" "" "pathogenic (recessive)" ""
"0000778946" "0" "70" "1" "94510289" "94510289" "subst" "0.000150245" "01695" "ABCA4_001971" "g.94510289G>A" "" "Prevention Genetics" "" "c.2930C>T p.Thr977Met het" "" "Unknown" "" "" "0" "" "" "g.94044733G>A" "" "likely pathogenic (recessive)" ""
"0000778947" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "Prevention Genetics" "" "c.5603A>T p.Asn1868Ile het" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000778948" "0" "70" "1" "94577135" "94577135" "subst" "2.43718E-5" "01695" "ABCA4_000240" "g.94577135C>T" "" "Prevention Genetics" "" "c.161G>A p.Cys54Tyr het" "" "Unknown" "" "" "0" "" "" "g.94111579C>T" "" "likely pathogenic (recessive)" ""
"0000778949" "0" "50" "1" "94528774" "94528774" "subst" "0.00264827" "01695" "ABCA4_000298" "g.94528774C>T" "" "Prevention Genetics" "" "c.1654G>A p.Val552Ile het" "" "Unknown" "" "" "0" "" "" "g.94063218C>T" "" "VUS" ""
"0000778950" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "Prevention Genetics" "" "c.5603A>T p.Asn1868Ile Het" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000778951" "0" "50" "1" "94468037" "94468037" "subst" "0" "01695" "ABCA4_001612" "g.94468037G>A" "" "Prevention Genetics" "" "c.6148-489C>T Intronic het" "" "Unknown" "" "" "0" "" "" "g.94002481G>A" "" "VUS" ""
"0000778952" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "Prevention Genetics" "" "c.5603A>T p.Asn1868Ile Het" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000778953" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "Prevention Genetics" "" "c.5603A>T p.Asn1868Ile Het" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000778954" "0" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "" "Prevention Genetics" "" "c.4469G>A p.Cys1490Tyr Het" "" "Unknown" "" "" "0" "" "" "g.94029515C>T" "" "likely pathogenic (recessive)" ""
"0000778955" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "Prevention Genetics" "" "c.5603A>T p.Asn1868Ile Likely Benign" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000778956" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "Prevention Genetics" "" "c.3113C>T p.Ala1038Val Het" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000778957" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "Prevention Genetics" "" "c.1622T>C p.Leu541Pro Pathogenic" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000778958" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "Prevention Genetics" "" "c.3113C>T p.Ala1038Val het" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000778959" "0" "90" "1" "94526212" "94526212" "subst" "1.22012E-5" "01695" "ABCA4_000075" "g.94526212G>A" "" "Prevention Genetics" "" "c.2041C>T p.Arg681* Het" "" "Unknown" "" "" "0" "" "" "g.94060656G>A" "" "pathogenic (recessive)" ""
"0000778960" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "Prevention Genetics" "" "c.5603A>T p.Asn1868Ile Het" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000778961" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "Prevention Genetics" "" "c.5603A>T p.Asn1868Ile het" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000778962" "0" "70" "1" "94577135" "94577135" "subst" "2.43718E-5" "01695" "ABCA4_000240" "g.94577135C>T" "" "Prevention Genetics" "" "c.161G>A p.Cys54Tyr het" "" "Unknown" "" "" "0" "" "" "g.94111579C>T" "" "likely pathogenic (recessive)" ""
"0000778963" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "Prevention Genetics" "" "c.5603A>T p.Asn1868Ile het" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000778964" "0" "50" "1" "94574188" "94574188" "subst" "4.06058E-6" "01695" "ABCA4_002213" "g.94574188T>C" "" "Prevention Genetics" "" "c.387A>G p.Leu129Leu Het" "" "Unknown" "" "" "0" "" "" "g.94108632T>C" "" "VUS" ""
"0000778965" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "Prevention Genetics" "" "c.5603A>T p.Asn1868Ile Het" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000778966" "0" "70" "1" "94506908" "94506908" "subst" "0" "01695" "ABCA4_001905" "g.94506908C>T" "" "Prevention Genetics" "" "c.3379G>A p.Gly1127Arg Het" "" "Unknown" "" "" "0" "" "" "g.94041352C>T" "" "likely pathogenic (recessive)" ""
"0000778967" "0" "50" "1" "94544140" "94544141" "ins" "0.000938872" "01695" "ABCA4_001241" "g.94544140_94544141insG" "" "Prevention Genetics" "" "c.1356+5_1356+6insC Intronic Likely Benign" "" "Unknown" "" "" "0" "" "" "g.94078584_94078585insG" "" "VUS" ""
"0000778968" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "Prevention Genetics" "" "c.5603A>T p.Asn1868Ile Het" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000778969" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "Prevention Genetics" "" "c.5882G>A p.Gly1961Glu het" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000778970" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "Prevention Genetics" "" "c.5603A>T p.Asn1868Ile het" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000778971" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "Prevention Genetics" "" "c.2588G>C p.Gly863Ala het" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000778972" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "Prevention Genetics" "" "c.5603A>T p.Asn1868Ile Het" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000778973" "0" "50" "1" "94514466" "94514466" "subst" "0.00192081" "01695" "ABCA4_000008" "g.94514466T>C" "" "Prevention Genetics" "" "c.2701A>G p.Thr901Ala Het" "" "Unknown" "" "" "0" "" "" "g.94048910T>C" "" "VUS" ""
"0000778974" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "Prevention Genetics" "" "c.5603A>T p.Asn1868Ile Likely Benign" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000778975" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "Prevention Genetics" "" "c.5603A>T p.Asn1868Ile Het" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000778976" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "Prevention Genetics" "" "c.3113C>T p.Ala1038Val Het" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000778977" "0" "90" "1" "94495009" "94495009" "dup" "0" "01695" "ABCA4_000087" "g.94495009dup" "" "Prevention Genetics" "" "c.4537dupC p.Gln1513Profs*42 Pathogenic" "" "Unknown" "" "" "0" "" "" "g.94029453dup" "" "pathogenic (recessive)" ""
"0000778978" "0" "50" "1" "94520821" "94520821" "subst" "8.13895E-6" "01695" "ABCA4_002028" "g.94520821G>A" "" "Prevention Genetics" "" "c.2433C>T p.Arg811Arg het" "" "Unknown" "" "" "0" "" "" "g.94055265G>A" "" "VUS" ""
"0000778979" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "Prevention Genetics" "" "c.5603A>T p.Asn1868Ile" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000778980" "0" "90" "1" "94546220" "94546220" "subst" "0" "01695" "ABCA4_000060" "g.94546220G>A" "" "Prevention Genetics" "" "c.913C>T p.Gln305* Het" "" "Unknown" "" "" "0" "" "" "g.94080664G>A" "" "pathogenic (recessive)" ""
"0000778981" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "Prevention Genetics" "" "c.5603A>T p.Asn1868Ile Likely Benign" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000778982" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "Prevention Genetics" "" "c.5603A>T p.Asn1868Ile Likely Benign" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000778983" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "Prevention Genetics" "" "c.3113C>T p.Ala1038Val het" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000778984" "0" "50" "1" "94485278" "94485278" "subst" "0.000487317" "01695" "ABCA4_000101" "g.94485278C>T" "" "Prevention Genetics" "" "c.5056G>A p.Val1686Met Het" "" "Unknown" "" "" "0" "" "" "g.94019722C>T" "" "VUS" ""
"0000778985" "0" "70" "1" "94476939" "94476939" "subst" "2.03371E-5" "01695" "ABCA4_001398" "g.94476939C>T" "" "Prevention Genetics" "" "c.5463G>A p.Thr1821Thr het" "" "Unknown" "" "" "0" "" "" "g.94011383C>T" "" "likely pathogenic (recessive)" ""
"0000778986" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "Prevention Genetics" "" "c.5603A>T p.Asn1868Ile het" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000778987" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "Prevention Genetics" "" "c.3386G>T p.Arg1129Leu het" "" "Unknown" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000778988" "0" "30" "1" "94528775" "94528775" "subst" "0.000528009" "01695" "ABCA4_001263" "g.94528775C>T" "" "Prevention Genetics" "" "c.1653G>A p.Val551Val Het" "" "Unknown" "" "" "0" "" "" "g.94063219C>T" "" "likely benign" ""
"0000778989" "3" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "Prevention Genetics" "" "c.5603A>T p.Asn1868Ile hom" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000778990" "3" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "Prevention Genetics" "" "c.5461-10T>C Intronic hom" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000778991" "3" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "Prevention Genetics" "" "c.5603A>T p.Asn1868Ile hom" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000778992" "0" "70" "1" "94543436" "94543436" "subst" "0" "01695" "ABCA4_002122" "g.94543436A>G" "" "Prevention Genetics" "" "c.1364T>C p.Leu455Pro het" "" "Unknown" "" "" "0" "" "" "g.94077880A>G" "" "likely pathogenic (recessive)" ""
"0000778993" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "Prevention Genetics" "" "c.2588G>C p.Gly863Ala het" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000778994" "0" "50" "1" "94512516" "94512516" "subst" "0.000446984" "01695" "ABCA4_000927" "g.94512516G>A" "" "Prevention Genetics" "" "c.2877C>T p.Thr959Thr het; c.5603A>T p.Asn1868Ile Het" "" "Unknown" "" "" "0" "" "" "g.94046960G>A" "" "VUS" ""
"0000778995" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "Prevention Genetics" "" "c.2877C>T p.Thr959Thr het; c.5603A>T p.Asn1868Ile Het" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000778996" "0" "70" "1" "94506902" "94506902" "subst" "1.21834E-5" "01695" "ABCA4_000623" "g.94506902G>A" "" "Prevention Genetics" "" "c.3385C>T p.Arg1129Cys het" "" "Unknown" "" "" "0" "" "" "g.94041346G>A" "" "likely pathogenic (recessive)" ""
"0000778997" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "Prevention Genetics" "" "c.5603A>T p.Asn1868Ile het" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
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"0000778999" "0" "70" "1" "94528713" "94528713" "subst" "4.87381E-5" "01695" "ABCA4_000072" "g.94528713C>T" "" "Prevention Genetics" "" "c.1715G>A p.Arg572Gln het; c.5603A>T p.Asn1868Ile Het" "" "Unknown" "" "" "0" "" "" "g.94063157C>T" "" "likely pathogenic (recessive)" ""
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"0000779002" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "Prevention Genetics" "" "c.5603A>T p.Asn1868Ile het" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000779003" "0" "70" "1" "94485134" "94485137" "del" "0" "01695" "ABCA4_000462" "g.94485134_94485137del" "" "Prevention Genetics" "" "c.5196+3_5196+6delAAGT Intronic Het" "" "Unknown" "" "" "0" "" "" "g.94019578_94019581del" "" "likely pathogenic (recessive)" ""
"0000779004" "0" "70" "1" "94577093" "94577093" "subst" "8.12394E-6" "01695" "ABCA4_000147" "g.94577093G>A" "" "Prevention Genetics" "" "c.203C>T p.Pro68Leu het" "" "Unknown" "" "" "0" "" "" "g.94111537G>A" "" "likely pathogenic (recessive)" ""
"0000779005" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "Prevention Genetics" "" "c.5603A>T p.Asn1868Ile het" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
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"0000779007" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "Prevention Genetics" "" "c.5603A>T p.Asn1868Ile het" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000779008" "0" "90" "1" "94506764" "94506764" "subst" "8.12269E-6" "01695" "ABCA4_001895" "g.94506764C>A" "" "Prevention Genetics" "" "c.3522+1G>T Splicing het" "" "Unknown" "" "" "0" "" "" "g.94041208C>A" "" "pathogenic (recessive)" ""
"0000779009" "0" "70" "1" "94471022" "94471022" "subst" "0" "01695" "ABCA4_001619" "g.94471022C>A" "" "Prevention Genetics" "" "c.6122G>T p.Gly2041Val Het" "" "Unknown" "" "" "0" "" "" "g.94005466C>A" "" "likely pathogenic (recessive)" ""
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"0000779011" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "Prevention Genetics" "" "c.5603A>T p.Asn1868Ile Het" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000779012" "0" "70" "1" "94476818" "94476818" "subst" "0" "01695" "ABCA4_001678" "g.94476818C>T" "" "Prevention Genetics" "" "c.5584G>A p.Gly1862Ser het" "" "Unknown" "" "" "0" "" "" "g.94011262C>T" "" "likely pathogenic (recessive)" ""
"0000779013" "0" "50" "1" "94466611" "94466611" "subst" "5.68722E-5" "01695" "ABCA4_001582" "g.94466611G>A" "" "Prevention Genetics" "" "c.6333C>T p.Asn2111Asn Het" "" "Unknown" "" "" "0" "" "" "g.94001055G>A" "" "VUS" ""
"0000779014" "0" "30" "1" "94564446" "94564446" "subst" "0.000629989" "01695" "ABCA4_002183" "g.94564446C>T" "" "Prevention Genetics" "" "c.672G>A p.Thr224Thr Likely Benign" "" "Unknown" "" "" "0" "" "" "g.94098890C>T" "" "likely benign" ""
"0000779015" "0" "70" "1" "94564504" "94564504" "subst" "0" "01695" "ABCA4_002190" "g.94564504C>T" "" "Prevention Genetics" "" "c.614G>A p.Cys205Tyr Het" "" "Unknown" "" "" "0" "" "" "g.94098948C>T" "" "likely pathogenic (recessive)" ""
"0000779016" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "Prevention Genetics" "" "c.5603A>T p.Asn1868Ile het" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
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"0000779018" "0" "50" "1" "94497370" "94497370" "subst" "0" "01695" "ABCA4_001851" "g.94497370T>G" "" "Prevention Genetics" "" "c.4092A>C p.Gln1364His Het" "" "Unknown" "" "" "0" "" "" "g.94031814T>G" "" "VUS" ""
"0000779019" "0" "50" "1" "94495060" "94495060" "subst" "0" "01695" "ABCA4_001809" "g.94495060C>T" "" "Prevention Genetics" "" "c.4480G>A p.Glu1494Lys Uncertain" "" "Unknown" "" "" "0" "" "" "g.94029504C>T" "" "VUS" ""
"0000779020" "0" "70" "1" "94484001" "94484001" "subst" "0" "01695" "ABCA4_000016" "g.94484001C>T" "" "Prevention Genetics" "" "c.5196+1137G>A Intronic Het" "" "Unknown" "" "" "0" "" "" "g.94018445C>T" "" "likely pathogenic (recessive)" ""
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"0000779023" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "Prevention Genetics" "" "c.5603A>T p.Asn1868Ile" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
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"0000779025" "0" "70" "1" "94487402" "94487402" "subst" "0" "01695" "ABCA4_000496" "g.94487402C>G" "" "Prevention Genetics" "" "c.4773G>C p.Gly1591Gly Het" "" "Unknown" "" "" "0" "" "" "g.94021846C>G" "" "likely pathogenic (recessive)" ""
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"0000779028" "0" "70" "1" "94495002" "94495002" "subst" "0" "01695" "ABCA4_000533" "g.94495002T>C" "" "Prevention Genetics" "" "c.4538A>G p.Gln1513Arg Het" "" "Unknown" "" "" "0" "" "" "g.94029446T>C" "" "likely pathogenic (recessive)" ""
"0000779029" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "Prevention Genetics" "" "c.4139C>T p.Pro1380Leu Het" "" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000779030" "0" "70" "1" "94512496" "94512496" "subst" "0" "01695" "ABCA4_001980" "g.94512496C>T" "" "Prevention Genetics" "" "c.2897G>A p.Gly966Glu het" "" "Unknown" "" "" "0" "" "" "g.94046940C>T" "" "likely pathogenic (recessive)" ""
"0000779031" "0" "90" "1" "94471026" "94471026" "subst" "1.21925E-5" "01695" "ABCA4_000791" "g.94471026G>A" "" "Prevention Genetics" "" "c.6118C>T p.Arg2040* het" "" "Unknown" "" "" "0" "" "" "g.94005470G>A" "" "pathogenic (recessive)" ""
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"0000779037" "0" "90" "1" "94528868" "94528868" "del" "0" "01695" "ABCA4_000304" "g.94528868del" "" "Prevention Genetics" "" "c.1561delG p.Val521Serfs*47 het" "" "Unknown" "" "" "0" "" "" "g.94063312del" "" "pathogenic (recessive)" ""
"0000779038" "0" "90" "1" "94586554" "94586560" "delins" "0" "01695" "ABCA4_002248" "g.94586554_94586560delinsCT" "" "Prevention Genetics" "" "c.42_48delinsAG p.Asn14Lysfs*38 het" "" "Unknown" "" "" "0" "" "" "g.94120998_94121004delinsCT" "" "pathogenic (recessive)" ""
"0000779039" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "Prevention Genetics" "" "c.5603A>T p.Asn1868Ile" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000779040" "0" "50" "1" "94495008" "94495008" "subst" "0" "01695" "ABCA4_000055" "g.94495008G>C" "" "Prevention Genetics" "" "c.4532C>G p.Pro1511Arg Het" "" "Unknown" "" "" "0" "" "" "g.94029452G>C" "" "VUS" ""
"0000779041" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "Prevention Genetics" "" "c.5603A>T p.Asn1868Ile het" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
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"0000779043" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "Prevention Genetics" "" "c.5603A>T p.Asn1868Ile Het" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
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"0000779046" "0" "50" "1" "94512516" "94512516" "subst" "0.000446984" "01695" "ABCA4_000927" "g.94512516G>A" "" "Prevention Genetics" "" "c.2877C>T p.Thr959Thr Het" "" "Unknown" "" "" "0" "" "" "g.94046960G>A" "" "VUS" ""
"0000779047" "0" "70" "1" "94502318" "94502323" "del" "0" "01695" "ABCA4_000591" "g.94502318_94502323del" "" "Prevention Genetics" "" "c.3840_3845del6 p.Asp1281_Ser1282del het" "" "Unknown" "" "" "0" "" "" "g.94036762_94036767del" "" "likely pathogenic (recessive)" ""
"0000779048" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "Prevention Genetics" "" "c.5603A>T p.Asn1868Ile het" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000779049" "0" "90" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "" "Prevention Genetics" "" "c.6320G>A p.Arg2107His Het" "" "Unknown" "" "" "0" "" "" "g.94001068C>T" "" "pathogenic (recessive)" ""
"0000779050" "0" "50" "1" "94522384" "94522384" "subst" "0" "01695" "ABCA4_002051" "g.94522384A>G" "" "Prevention Genetics" "" "c.2161-6T>C Intronic Likely Benign" "" "Unknown" "" "" "0" "" "" "g.94056828A>G" "" "VUS" ""
"0000779051" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "Prevention Genetics" "" "c.3113C>T p.Ala1038Val Het" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000779052" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "Prevention Genetics" "" "c.5603A>T p.Asn1868Ile Het" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000779053" "3" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "Prevention Genetics" "" "c.5603A>T p.Asn1868Ile hom" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000779054" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "Prevention Genetics" "" "c.5603A>T p.Asn1868Ile het" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000779055" "0" "70" "1" "94476875" "94476875" "subst" "1.62489E-5" "01695" "ABCA4_001280" "g.94476875G>A" "" "Prevention Genetics" "" "c.5527C>T p.Arg1843Trp het" "" "Unknown" "" "" "0" "" "" "g.94011319G>A" "" "likely pathogenic (recessive)" ""
"0000779056" "0" "90" "1" "94486791" "94486791" "subst" "0" "01695" "ABCA4_001253" "g.94486791C>T" "" "Prevention Genetics" "" "c.5018+5G>A Intronic het" "" "Unknown" "" "" "0" "" "" "g.94021235C>T" "" "pathogenic (recessive)" ""
"0000779057" "0" "70" "1" "94544219" "94544219" "subst" "0" "01695" "ABCA4_002134" "g.94544219A>T" "" "Prevention Genetics" "" "c.1283T>A p.Val428Asp het" "" "Unknown" "" "" "0" "" "" "g.94078663A>T" "" "likely pathogenic (recessive)" ""
"0000779058" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "Prevention Genetics" "" "c.5603A>T p.Asn1868Ile het" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000779059" "0" "70" "1" "94467503" "94467503" "subst" "0" "01695" "ABCA4_001605" "g.94467503C>G" "" "Prevention Genetics" "" "c.6193G>C p.Asp2065His het" "" "Unknown" "" "" "0" "" "" "g.94001947C>G" "" "likely pathogenic (recessive)" ""
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"0000779062" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "Prevention Genetics" "" "c.5603A>T p.Asn1868Ile Het" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000779063" "0" "70" "1" "94512478" "94512478" "subst" "1.6261E-5" "01695" "ABCA4_001976" "g.94512478G>A" "" "Prevention Genetics" "" "c.2915C>T p.Thr972Ile het" "" "Unknown" "" "" "0" "" "" "g.94046922G>A" "" "likely pathogenic (recessive)" ""
"0000779064" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "Prevention Genetics" "" "c.1622T>C p.Leu541Pro het" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000779065" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "Prevention Genetics" "" "c.3113C>T p.Ala1038Val Het; c.1411G>A p.Glu471Lys Het" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000779066" "0" "50" "1" "94543389" "94543389" "subst" "0.000861235" "01695" "ABCA4_000312" "g.94543389C>T" "" "Prevention Genetics" "" "c.3113C>T p.Ala1038Val Het; c.1411G>A p.Glu471Lys Het" "" "Unknown" "" "" "0" "" "" "g.94077833C>T" "" "VUS" ""
"0000779067" "0" "90" "1" "94520665" "94520665" "subst" "0" "01695" "ABCA4_000707" "g.94520665A>G" "" "Prevention Genetics" "" "c.2587+2T>C Splicing het" "" "Unknown" "" "" "0" "" "" "g.94055109A>G" "" "pathogenic (recessive)" ""
"0000779068" "0" "90" "1" "94544158" "94544158" "del" "0" "01695" "ABCA4_000315" "g.94544158del" "" "Prevention Genetics" "" "c.1344delG p.Met448Ilefs*3 het" "" "Unknown" "" "" "0" "" "" "g.94078602del" "" "pathogenic (recessive)" ""
"0000779069" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "Prevention Genetics" "" "c.5603A>T p.Asn1868Ile Het" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000779070" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "Prevention Genetics" "" "c.5603A>T p.Asn1868Ile Het" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000779071" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "Prevention Genetics" "" "c.5461-10T>C Intronic Het" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000779072" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "Prevention Genetics" "" "c.5603A>T p.Asn1868Ile Likely Benign" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000779073" "0" "90" "1" "94508386" "94508386" "subst" "1.62443E-5" "01695" "ABCA4_000642" "g.94508386C>T" "" "Prevention Genetics" "" "c.3259G>A p.Glu1087Lys het" "" "Unknown" "" "" "0" "" "" "g.94042830C>T" "" "pathogenic (recessive)" ""
"0000779074" "0" "90" "1" "94497564" "94497564" "subst" "1.64383E-5" "01695" "ABCA4_000091" "g.94497564G>A" "" "Prevention Genetics" "" "c.3898C>T p.Arg1300* het" "" "Unknown" "" "" "0" "" "" "g.94032008G>A" "" "pathogenic (recessive)" ""
"0000779075" "0" "90" "1" "94508386" "94508386" "subst" "1.62443E-5" "01695" "ABCA4_000642" "g.94508386C>T" "" "Prevention Genetics" "" "c.3259G>A p.Glu1087Lys het" "" "Unknown" "" "" "0" "" "" "g.94042830C>T" "" "pathogenic (recessive)" ""
"0000779076" "0" "70" "1" "94502318" "94502323" "del" "0" "01695" "ABCA4_000591" "g.94502318_94502323del" "" "Prevention Genetics" "" "c.3840_3845del6 p.Asp1281_Ser1282del" "" "Unknown" "" "" "0" "" "" "g.94036762_94036767del" "" "likely pathogenic (recessive)" ""
"0000779077" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "Prevention Genetics" "" "c.5603A>T p.Asn1868Ile Het" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000779078" "0" "70" "1" "94484001" "94484001" "subst" "0" "01695" "ABCA4_000016" "g.94484001C>T" "" "Prevention Genetics" "" "c.5196+1137G>A Intronic Het" "" "Unknown" "" "" "0" "" "" "g.94018445C>T" "" "likely pathogenic (recessive)" ""
"0000779079" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "Prevention Genetics" "" "c.5603A>T p.Asn1868Ile Likely Benign" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000779080" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "Prevention Genetics" "" "c.5603A>T p.Asn1868Ile Het" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000779081" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "Prevention Genetics" "" "c.5603A>T p.Asn1868Ile Het" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000779082" "0" "50" "1" "94487404" "94487404" "subst" "0.00244055" "01695" "ABCA4_000497" "g.94487404C>T" "" "Prevention Genetics" "" "c.4771G>A p.Gly1591Arg Het" "" "Unknown" "" "" "0" "" "" "g.94021848C>T" "" "VUS" ""
"0000779083" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "Prevention Genetics" "" "c.5603A>T p.Asn1868Ile Likely Benign" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000779084" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "Prevention Genetics" "" "c.5603A>T p.Asn1868Ile Het" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000779085" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "Prevention Genetics" "" "c.5603A>T p.Asn1868Ile Het" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000779086" "0" "50" "1" "94476940" "94476940" "subst" "5.28894E-5" "01695" "ABCA4_001690" "g.94476940G>A" "" "Prevention Genetics" "" "c.5462C>T p.Thr1821Met Het" "" "Unknown" "" "" "0" "" "" "g.94011384G>A" "" "VUS" ""
"0000779087" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "Prevention Genetics" "" "c.5603A>T p.Asn1868Ile Het" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000779088" "0" "90" "1" "94487195" "94487195" "subst" "0" "01695" "ABCA4_001752" "g.94487195C>T" "" "Prevention Genetics" "" "c.4848+1G>A Splicing het" "" "Unknown" "" "" "0" "" "" "g.94021639C>T" "" "pathogenic (recessive)" ""
"0000779089" "0" "50" "1" "94574204" "94574204" "subst" "2.84243E-5" "01695" "ABCA4_002216" "g.94574204C>T" "" "Prevention Genetics" "" "c.371G>A p.Arg124His" "" "Unknown" "" "" "0" "" "" "g.94108648C>T" "" "VUS" ""
"0000779090" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "Prevention Genetics" "" "c.5882G>A p.Gly1961Glu het" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000779091" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "Prevention Genetics" "" "c.3113C>T p.Ala1038Val Het" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000779092" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "Prevention Genetics" "" "c.3113C>T p.Ala1038Val Het" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000779093" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "Prevention Genetics" "" "c.5882G>A p.Gly1961Glu het" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000779094" "0" "90" "1" "94471056" "94471056" "subst" "2.84398E-5" "01695" "ABCA4_000050" "g.94471056G>A" "3, 121402, 0, 0.00002471" "{PMID:Goetz 2020:32893963}" "" "c.6088C>T, p.Arg2030Stop Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94005500G>A" "" "pathogenic (recessive)" ""
"0000779095" "0" "70" "1" "94574147" "94574147" "subst" "8.12236E-6" "01695" "ABCA4_000213" "g.94574147G>A" "" "{PMID:Goetz 2020:32893963}" "" "c.428C>T, p.Pro143Leu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94108591G>A" "" "likely pathogenic (recessive)" ""
"0000779096" "0" "70" "1" "94544259" "94544259" "subst" "4.06098E-6" "01695" "ABCA4_002136" "g.94544259T>C" "" "{PMID:Goetz 2020:32893963}" "" "c.1243A>G, p.Asn415Asp Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94078703T>C" "" "likely pathogenic (recessive)" ""
"0000779097" "0" "90" "1" "94546248" "94546248" "del" "2.03666E-5" "01695" "ABCA4_000352" "g.94546248del" "" "{PMID:Goetz 2020:32893963}" "" "c.885delC, p.Leu296Cysfs*4 Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94080692del" "" "pathogenic (recessive)" ""
"0000779098" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "24, 119274, 0, 0.0002012" "{PMID:Goetz 2020:32893963}" "" "c.4139C>T, p.Pro1380Leu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000779099" "0" "50" "1" "94495994" "94495994" "subst" "0.00019493" "01695" "ABCA4_000548" "g.94495994C>T" "30, 121320, 0, 0.0002473" "{PMID:Goetz 2020:32893963}" "" "c.4342G>A, p.Gly1448Arg Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94030438C>T" "" "VUS" ""
"0000779100" "0" "70" "1" "94487251" "94487251" "subst" "2.85679E-5" "01695" "ABCA4_000490" "g.94487251G>T" "3, 113672, 0, 0.00002639" "{PMID:Goetz 2020:32893963}" "" "c.4793C>A, p.Ala1598Asp Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94021695G>T" "" "likely pathogenic (recessive)" ""
"0000779101" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Goetz 2020:32893963}" "" "c.5882G>A, p.Gly1961Glu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000779102" "0" "70" "1" "94467467" "94467467" "subst" "4.06164E-6" "01695" "ABCA4_000095" "g.94467467G>C" "" "{PMID:Goetz 2020:32893963}" "" "c.6229C>G, p.Arg2077Gly Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94001911G>C" "" "likely pathogenic (recessive)" ""
"0000779103" "0" "90" "1" "94466658" "94466658" "subst" "8.14817E-6" "01695" "ABCA4_000132" "g.94466658C>T" "1, 120798, 0, 0.000008278" "{PMID:Goetz 2020:32893963}" "" "c.6286G>A, p.Glu2096Lys Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94001102C>T" "" "pathogenic (recessive)" ""
"0000779104" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "5406, 121330, 156, 0.04456" "{PMID:Goetz 2020:32893963}" "" "c.5603A>T, p.Asp.Asn1868Ile Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000779105" "0" "90" "1" "94564442" "94564454" "del" "0" "01695" "ABCA4_000377" "g.94564442_94564454del" "" "{PMID:Goetz 2020:32893963}" "" "c.666_678del13, p.Lys223Metfs*14 Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94098886_94098898del" "" "pathogenic (recessive)" ""
"0000779106" "0" "90" "1" "94517188" "94522379" "del" "0" "01695" "ABCA4_002591" "g.(94514514_94517188)_(94522379_94526092)del" "" "{PMID:Goetz 2020:32893963}" "" "del ex15-17" "" "Unknown" "" "" "0" "" "" "g.(94048958_94051632)_(94056823_94060536)del" "" "pathogenic (recessive)" ""
"0000779107" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Goetz 2020:32893963}" "" "c.5882G>A, p.Gly1961Glu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000779108" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Goetz 2020:32893963}" "" "c.5882G>A, p.Gly1961Glu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000779109" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "15, 121412, 0, 0.0001235" "{PMID:Goetz 2020:32893963}" "" "c.1622T>C, p.Leu541Pro Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000779110" "0" "70" "1" "94490567" "94490567" "subst" "5.68528E-5" "01695" "ABCA4_000026" "g.94490567G>A" "4, 121406, 0, 0.00003295" "{PMID:Goetz 2020:32893963}" "" "c.4577C>T, p.Thr1526Met Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94025011G>A" "" "likely pathogenic (recessive)" ""
"0000779111" "0" "70" "1" "94490567" "94490567" "subst" "5.68528E-5" "01695" "ABCA4_000026" "g.94490567G>A" "4, 121406, 0, 0.00003295" "{PMID:Goetz 2020:32893963}" "" "c.4577C>T, p.Thr1526Met Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94025011G>A" "" "likely pathogenic (recessive)" ""
"0000779112" "0" "90" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "227, 121250, 3, 0.001872" "{PMID:Goetz 2020:32893963}" "" "c.6320G>A, p.Arg2107His heterozygous" "" "Unknown" "" "" "0" "" "" "g.94001068C>T" "" "pathogenic (recessive)" ""
"0000779113" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Goetz 2020:32893963}" "" "c.5461-10T>C, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000779114" "0" "70" "1" "94463448" "94463448" "subst" "0" "01695" "ABCA4_001564" "g.94463448T>A" "" "{PMID:Goetz 2020:32893963}" "" "c.6698A>T, Glu2233Val Heterozygous" "" "Unknown" "" "" "0" "" "" "g.93997892T>A" "" "likely pathogenic (recessive)" ""
"0000779115" "0" "70" "1" "94510271" "94510271" "subst" "0" "01695" "ABCA4_000670" "g.94510271G>A" "" "{PMID:Goetz 2020:32893963}" "" "c.2948C>T, p.Thr983Ile Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94044715G>A" "" "likely pathogenic (recessive)" ""
"0000779116" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "15, 121412, 0, 0.0001235" "{PMID:Goetz 2020:32893963}" "" "c.1622T>C, p.Leu541Pro Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000779117" "0" "70" "1" "94496548" "94496548" "subst" "2.43787E-5" "01695" "ABCA4_000088" "g.94496548G>A" "2, 120802, 0, 0.00001656" "{PMID:Goetz 2020:32893963}" "" "c.4253+4C>T, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94030992G>A" "" "likely pathogenic (recessive)" ""
"0000779118" "0" "70" "1" "94564500" "94564500" "subst" "0.00100414" "01695" "ABCA4_000069" "g.94564500G>C" "162, 118200, 0, 0.001371" "{PMID:Goetz 2020:32893963}" "" "c.618C>G, p.Ser206Arg Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94098944G>C" "" "likely pathogenic (recessive)" ""
"0000779119" "0" "90" "1" "94508386" "94508386" "subst" "1.62443E-5" "01695" "ABCA4_000642" "g.94508386C>T" "4, 121376, 0, 0.00003296" "{PMID:Goetz 2020:32893963}" "" "c.3259G>A, p.Glu1087Lys heterozygous" "" "Unknown" "" "" "0" "" "" "g.94042830C>T" "" "pathogenic (recessive)" ""
"0000779120" "0" "90" "1" "94495009" "94495009" "del" "0" "01695" "ABCA4_000534" "g.94495009del" "" "{PMID:Goetz 2020:32893963}" "" "c.4537 delC, Q1513fs Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94029453del" "" "pathogenic (recessive)" ""
"0000779121" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Goetz 2020:32893963}" "" "c.5882G>A, p.Gly1961Glu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000779122" "0" "30" "1" "94496602" "94496602" "subst" "0.0234538" "01695" "ABCA4_000913" "g.94496602G>T" "2957, 120728, 46, 0.02449" "{PMID:Goetz 2020:32893963}" "" "c.4203C>A, p.Pro1401Pro Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94031046G>T" "" "likely benign" ""
"0000779123" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "5406, 121330, 156, 0.04456" "{PMID:Goetz 2020:32893963}" "" "c.5603A>T, p.Asp.Asn1868Ile Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000779124" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "24, 119274, 0, 0.0002012" "{PMID:Goetz 2020:32893963}" "" "c.4139C>T, p.Pro1380Leu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000779125" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "24, 119274, 0, 0.0002012" "{PMID:Goetz 2020:32893963}" "" "c.4139C>T, p.Pro1380Leu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000779126" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Goetz 2020:32893963}" "" "c.5882G>A, p.Gly1961Glu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000779127" "0" "90" "1" "94495157" "94495157" "subst" "0" "01695" "ABCA4_000545" "g.94495157C>T" "" "{PMID:Goetz 2020:32893963}" "" "c.4383G>A, p.Trp1461Stop Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94029601C>T" "" "pathogenic (recessive)" ""
"0000779128" "0" "70" "1" "94488948" "94488948" "subst" "0" "01695" "ABCA4_000514" "g.94488948T>C" "" "{PMID:Goetz 2020:32893963}" "" "c.4661A>G, p.Glu1554Gly Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94023392T>C" "" "likely pathogenic (recessive)" ""
"0000779129" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Goetz 2020:32893963}" "" "c.5882G>A, p.Gly1961Glu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000779130" "0" "90" "1" "94502343" "94502343" "dup" "0" "01695" "ABCA4_000592" "g.94502343dup" "" "{PMID:Goetz 2020:32893963}" "" "c.3819dupT, p.Leu1274Serfs*8 Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94036787dup" "" "pathogenic (recessive)" ""
"0000779131" "0" "50" "1" "94496053" "94496053" "subst" "0.00437371" "01695" "ABCA4_000556" "g.94496053G>A" "500, 121376, 12, 0.004119" "{PMID:Goetz 2020:32893963}" "" "c.4283C>T, p.(Thr1428Met) Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94030497G>A" "" "VUS" ""
"0000779132" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "24, 119274, 0, 0.0002012" "{PMID:Goetz 2020:32893963}" "" "c.4139C>T, p.Pro1380Leu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000779133" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "5406, 121330, 156, 0.04456" "{PMID:Goetz 2020:32893963}" "" "c.5603A>T, p.Asp.Asn1868Ile Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000779134" "0" "30" "1" "94496602" "94496602" "subst" "0.0234538" "01695" "ABCA4_000913" "g.94496602G>T" "2957, 120728, 46, 0.02449" "{PMID:Goetz 2020:32893963}" "" "c.4203C>A, p.Pro1401Pro Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94031046G>T" "" "likely benign" ""
"0000779135" "0" "90" "1" "94473790" "94473790" "subst" "0" "01695" "ABCA4_000399" "g.94473790C>T" "" "{PMID:Goetz 2020:32893963}" "" "c.IVS42+1G>A, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94008234C>T" "" "pathogenic (recessive)" ""
"0000779136" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "15, 121412, 0, 0.0001235" "{PMID:Goetz 2020:32893963}" "" "c.1622T>C, p.Leu541Pro Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000779137" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Goetz 2020:32893963}" "" "c.5882G>A, p.Gly1961Glu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000779138" "0" "50" "1" "94467506" "94467506" "subst" "3.24913E-5" "01695" "ABCA4_000785" "g.94467506C>T" "4, 121382, 0, 0.00003295" "{PMID:Goetz 2020:32893963}" "" "c.6190G>A, p.Ala2064Thr Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94001950C>T" "" "VUS" ""
"0000779139" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Goetz 2020:32893963}" "" "c.5882G>A, p.Gly1961Glu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000779140" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Goetz 2020:32893963}" "" "c.5882G>A, p.Gly1961Glu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000779141" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Goetz 2020:32893963}" "" "c.5882G>A, p.Gly1961Glu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000779142" "0" "30" "1" "94496602" "94496602" "subst" "0.0234538" "01695" "ABCA4_000913" "g.94496602G>T" "2957, 120728, 46, 0.02449" "{PMID:Goetz 2020:32893963}" "" "c.4203C>A, p.Pro1401Pro Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94031046G>T" "" "likely benign" ""
"0000779143" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Goetz 2020:32893963}" "" "c.IVS38-10 C>T, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000779144" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "5406, 121330, 156, 0.04456" "{PMID:Goetz 2020:32893963}" "" "c.5603A>T, p.Asp.Asn1868Ile Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000779145" "0" "70" "1" "94467520" "94467520" "subst" "1.62448E-5" "01695" "ABCA4_001609" "g.94467520C>T" "" "{PMID:Goetz 2020:32893963}" "" "c.6176G>A, p.Gly2059sp Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94001964C>T" "" "likely pathogenic (recessive)" ""
"0000779146" "0" "70" "1" "94564457" "94564457" "subst" "6.91434E-5" "01695" "ABCA4_002184" "g.94564457C>T" "" "{PMID:Goetz 2020:32893963}" "" "c.661G>A, p.Gly221Arg Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94098901C>T" "" "likely pathogenic (recessive)" ""
"0000779147" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "5406, 121330, 156, 0.04456" "{PMID:Goetz 2020:32893963}" "" "c.5603A>T, p.Asp.Asn1868Ile Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000779148" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "15, 121412, 0, 0.0001235" "{PMID:Goetz 2020:32893963}" "" "c.1622T>C, p.Leu541Pro Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000779149" "0" "50" "1" "94485196" "94485196" "subst" "8.239E-6" "01695" "ABCA4_000469" "g.94485196T>C" "2, 91346, 0, 0.00002189" "{PMID:Goetz 2020:32893963}" "" "c.5138A>G, p.Gln1713Arg* Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94019640T>C" "" "VUS" ""
"0000779150" "0" "70" "1" "94496548" "94496548" "subst" "2.43787E-5" "01695" "ABCA4_000088" "g.94496548G>A" "2, 120802, 0, 0.00001656" "{PMID:Goetz 2020:32893963}" "" "c.4253+4C>T, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94030992G>A" "" "likely pathogenic (recessive)" ""
"0000779151" "0" "50" "1" "94485196" "94485196" "subst" "8.239E-6" "01695" "ABCA4_000469" "g.94485196T>C" "2, 91346, 0, 0.00002189" "{PMID:Goetz 2020:32893963}" "" "c.5138A>G, p.Gln1713Arg Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94019640T>C" "" "VUS" ""
"0000779152" "0" "70" "1" "94485197" "94485197" "subst" "1.23624E-5" "01695" "ABCA4_001496" "g.94485197G>T" "" "{PMID:Goetz 2020:32893963}" "" "c.5137C>A, p.Gln1713Lys Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94019641G>T" "" "likely pathogenic (recessive)" ""
"0000779153" "0" "30" "1" "94496602" "94496602" "subst" "0.0234538" "01695" "ABCA4_000913" "g.94496602G>T" "2957, 120728, 46, 0.02449" "{PMID:Goetz 2020:32893963}" "" "c.4203C>A, p.Pro1401Pro Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94031046G>T" "" "likely benign" ""
"0000779154" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Goetz 2020:32893963}" "" "c.2588G>C, p.Gly863Ala Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000779155" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Goetz 2020:32893963}" "" "c.2588G>C, p.Gly863Ala Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000779156" "0" "90" "1" "94506884" "94506884" "subst" "0" "01695" "ABCA4_001903" "g.94506884G>A" "" "{PMID:Goetz 2020:32893963}" "" "c.3403C>T, p.Gln1135Stop Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94041328G>A" "" "pathogenic (recessive)" ""
"0000779157" "0" "50" "1" "94487404" "94487404" "subst" "0.00244055" "01695" "ABCA4_000497" "g.94487404C>T" "317, 121146, 0, 0.002617" "{PMID:Goetz 2020:32893963}" "" "c.4771G>A, p.Gly1591Arg Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94021848C>T" "" "VUS" ""
"0000779158" "0" "50" "1" "94568686" "94568686" "subst" "0.00258122" "01695" "ABCA4_000212" "g.94568686C>T" "290, 120866, 1, 0.002399" "{PMID:Goetz 2020:32893963}" "" "c.455G>A, p.Arg152Gln heterozygous" "" "Unknown" "" "" "0" "" "" "g.94103130C>T" "" "VUS" ""
"0000779159" "0" "70" "1" "94577135" "94577135" "subst" "2.43718E-5" "01695" "ABCA4_000240" "g.94577135C>T" "2, 121210, 0, 0.0000165" "{PMID:Goetz 2020:32893963}" "" "c.161G>A, p.Cys54Tyr Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94111579C>T" "" "likely pathogenic (recessive)" ""
"0000779160" "0" "30" "1" "94496602" "94496602" "subst" "0.0234538" "01695" "ABCA4_000913" "g.94496602G>T" "2957, 120728, 46, 0.02449" "{PMID:Goetz 2020:32893963}" "" "c.4203C>A, p.Pro1401Pro Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94031046G>T" "" "likely benign" ""
"0000779161" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "5406, 121330, 156, 0.04456" "{PMID:Goetz 2020:32893963}" "" "c.5603A>T, p.Asp.Asn1868Ile Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000779162" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Goetz 2020:32893963}" "" "c.2588G>C, p.Gly863Ala Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000779163" "0" "70" "1" "94486896" "94486896" "subst" "3.65562E-5" "01695" "ABCA4_000085" "g.94486896G>A" "1, 121394, 0, 0.000008238" "{PMID:Goetz 2020:32893963}" "" "c.4918C>T, p.Arg1640Trp Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94021340G>A" "" "likely pathogenic (recessive)" ""
"0000779164" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "24, 119274, 0, 0.0002012" "{PMID:Goetz 2020:32893963}" "" "c.4139C>T, p.Pro1380Leu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000779165" "0" "30" "1" "94496602" "94496602" "subst" "0.0234538" "01695" "ABCA4_000913" "g.94496602G>T" "2957, 120728, 46, 0.02449" "{PMID:Goetz 2020:32893963}" "" "c.4203C>A, p.Pro1401Pro Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94031046G>T" "" "likely benign" ""
"0000779166" "0" "50" "1" "94476495" "94476495" "subst" "0" "01695" "ABCA4_000424" "g.94476495A>G" "" "{PMID:Goetz 2020:32893963}" "" "c.IVS39-10T>C, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94010939A>G" "" "VUS" ""
"0000779167" "0" "90" "1" "94528132" "94528132" "subst" "0" "01695" "ABCA4_002066" "g.94528132C>G" "" "{PMID:Goetz 2020:32893963}" "" "c.1937+1G>C, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94062576C>G" "" "pathogenic (recessive)" ""
"0000779168" "0" "30" "1" "94496602" "94496602" "subst" "0.0234538" "01695" "ABCA4_000913" "g.94496602G>T" "2957, 120728, 46, 0.02449" "{PMID:Goetz 2020:32893963}" "" "c.4203C>A, p.Pro1401Pro Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94031046G>T" "" "likely benign" ""
"0000779169" "0" "70" "1" "94471055" "94471055" "subst" "0.00035346" "01695" "ABCA4_000029" "g.94471055C>T" "47, 121404, 1, 0.0003871" "{PMID:Goetz 2020:32893963}" "" "c.6089G>A, p.Arg2030Gln Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94005499C>T" "" "likely pathogenic (recessive)" ""
"0000779170" "3" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "5406, 121330, 156, 0.04456" "{PMID:Goetz 2020:32893963}" "" "c.5603A>T, p.(Asn1868Ile) Homozygous" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000779171" "0" "30" "1" "94496602" "94496602" "subst" "0.0234538" "01695" "ABCA4_000913" "g.94496602G>T" "2957, 120728, 46, 0.02449" "{PMID:Goetz 2020:32893963}" "" "c.4203C>A, p.(Pro1401=) Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94031046G>T" "" "likely benign" ""
"0000779172" "0" "90" "1" "94485137" "94485137" "subst" "0" "01695" "ABCA4_000464" "g.94485137C>T" "3, 49858, 0, 0.00006017" "{PMID:Goetz 2020:32893963}" "" "c.5196+1G>A, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94019581C>T" "" "pathogenic (recessive)" ""
"0000779173" "0" "10" "1" "94505604" "94505604" "subst" "0.00645586" "01695" "ABCA4_000092" "g.94505604A>C" "879, 64452, 44, 0.01364" "{PMID:Goetz 2020:32893963}" "" "c.3602T>G, p.Leu1201Arg Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94040048A>C" "" "benign" ""
"0000779174" "0" "70" "1" "94528143" "94528143" "subst" "0.00124448" "01695" "ABCA4_000076" "g.94528143C>T" "196, 121108, 1, 0.001618" "{PMID:Goetz 2020:32893963}" "" "c.1927G>A, p.Val643Met Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94062587C>T" "" "likely pathogenic (recessive)" ""
"0000779175" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Goetz 2020:32893963}" "" "c.5882G>A, p.Gly1961Glu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000779176" "0" "70" "1" "94546118" "94546118" "subst" "8.13326E-6" "01695" "ABCA4_000082" "g.94546118A>C" "" "{PMID:Goetz 2020:32893963}" "" "c.1015T>G, p.Trp339Gly Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94080562A>C" "" "likely pathogenic (recessive)" ""
"0000779177" "0" "70" "1" "94485250" "94485250" "subst" "0" "01695" "ABCA4_001732" "g.94485250G>T" "" "{PMID:Goetz 2020:32893963}" "" "c.5084C>A, p.Ala1695Asp Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94019694G>T" "" "likely pathogenic (recessive)" ""
"0000779178" "0" "70" "1" "94506923" "94506923" "subst" "2.43657E-5" "01695" "ABCA4_000012" "g.94506923C>T" "3, 121394, 0, 0.00002471" "{PMID:Goetz 2020:32893963}" "" "c.3364G>A, p.Glu1122Lys Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94041367C>T" "" "likely pathogenic (recessive)" ""
"0000779179" "0" "90" "1" "94508315" "94508315" "subst" "0" "01695" "ABCA4_001917" "g.94508315A>T" "" "{PMID:Goetz 2020:32893963}" "" "c.IVS22+2T>Ac.3328+2T>A, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94042759A>T" "" "pathogenic (recessive)" ""
"0000779180" "0" "70" "1" "94490576" "94490576" "subst" "0" "01695" "ABCA4_001790" "g.94490576T>C" "" "{PMID:Goetz 2020:32893963}" "" "c.4568A>G, p.Gln1523Arg Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94025020T>C" "" "likely pathogenic (recessive)" ""
"0000779181" "0" "10" "1" "94497563" "94497563" "subst" "0.00492504" "01695" "ABCA4_000090" "g.94497563C>T" "757, 118654, 27, 0.00638" "{PMID:Goetz 2020:32893963}" "" "c.3899G>A, p.Arg1300Gln Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94032007C>T" "" "benign" ""
"0000779182" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Goetz 2020:32893963}" "" "c.5461-10T>C, Splicing Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000779183" "0" "70" "1" "94486896" "94486896" "subst" "3.65562E-5" "01695" "ABCA4_000085" "g.94486896G>A" "1, 121394, 0, 0.000008238" "{PMID:Goetz 2020:32893963}" "" "c.4918C>T, p.Arg1640Trp Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94021340G>A" "" "likely pathogenic (recessive)" ""
"0000779184" "0" "70" "1" "94522239" "94522239" "subst" "2.03305E-5" "01695" "ABCA4_000736" "g.94522239A>T" "1, 119332, 0, 0.00000838" "{PMID:Goetz 2020:32893963}" "" "c.2300T>A, p.Val767Asp Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94056683A>T" "" "likely pathogenic (recessive)" ""
"0000779185" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Goetz 2020:32893963}" "" "c.2588G>C, p.Gly863Ala Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000779186" "0" "90" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "21, 121302, 0, 0.0001731" "{PMID:Goetz 2020:32893963}" "" "c.2894A>G, p.Asn965Ser Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94046943T>C" "" "pathogenic (recessive)" ""
"0000779187" "0" "70" "1" "94466638" "94466638" "subst" "2.8465E-5" "01695" "ABCA4_000841" "g.94466638G>T" "6, 121126, 0, 0.00004954" "{PMID:Goetz 2020:32893963}" "" "c.6306C>A, p.Asp2102Glu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94001082G>T" "" "likely pathogenic (recessive)" ""
"0000779188" "0" "70" "1" "94490567" "94490567" "subst" "5.68528E-5" "01695" "ABCA4_000026" "g.94490567G>A" "4, 121406, 0, 0.00003295" "{PMID:Goetz 2020:32893963}" "" "c.4577C>T, p.Thr1526Met Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94025011G>A" "" "likely pathogenic (recessive)" ""
"0000779189" "0" "30" "1" "94496602" "94496602" "subst" "0.0234538" "01695" "ABCA4_000913" "g.94496602G>T" "2957, 120728, 46, 0.02449" "{PMID:Goetz 2020:32893963}" "" "c.4203C>A, p.Pro1401Pro Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94031046G>T" "" "likely benign" ""
"0000779190" "0" "30" "1" "94496602" "94496602" "subst" "0.0234538" "01695" "ABCA4_000913" "g.94496602G>T" "2957, 120728, 46, 0.02449" "{PMID:Goetz 2020:32893963}" "" "c.4203C>A, p.Pro1401Pro Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94031046G>T" "" "likely benign" ""
"0000779191" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "26, 121404, 0, 0.0002142" "{PMID:Goetz 2020:32893963}" "" "c.6079C>T, p.Leu2027Phe Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic (recessive)" ""
"0000779192" "0" "50" "1" "94476428" "94476428" "subst" "7.71699E-5" "01695" "ABCA4_000422" "g.94476428G>A" "7, 121344, 0, 0.00005769" "{PMID:Goetz 2020:32893963}" "" "c.5642C>T, p.Ala1881Val Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94010872G>A" "" "VUS" ""
"0000779193" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "30, 121388, 0, 0.0002471" "{PMID:Goetz 2020:32893963}" "" "c.3386G>T, p.Arg1129Leu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000779194" "0" "50" "1" "94564460" "94564460" "subst" "8.1355E-6" "01695" "ABCA4_000056" "g.94564460G>A" "" "{PMID:Goetz 2020:32893963}" "" "c.658C>T, p.Arg220Cys Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94098904G>A" "" "VUS" ""
"0000779195" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "24, 119274, 0, 0.0002012" "{PMID:Goetz 2020:32893963}" "" "c.4139C>T, p.Pro1380Leu heterozygous" "" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000779196" "0" "70" "1" "94528713" "94528713" "subst" "4.87381E-5" "01695" "ABCA4_000072" "g.94528713C>T" "6, 121412, 0, 0.00004942" "{PMID:Goetz 2020:32893963}" "" "c.1715G>A, p.Arg572Gln heterozygous" "" "Unknown" "" "" "0" "" "" "g.94063157C>T" "" "likely pathogenic (recessive)" ""
"0000779197" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Goetz 2020:32893963}" "" "c.2588G>C, p.Gly863Ala Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000779198" "0" "70" "1" "94508322" "94508322" "subst" "1.62513E-5" "01695" "ABCA4_000128" "g.94508322C>T" "2, 121288, 0, 0.00001649" "{PMID:Goetz 2020:32893963}" "" "c.3323G>A, p.Arg1108His Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94042766C>T" "" "likely pathogenic (recessive)" ""
"0000779199" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "42, 120772, 0, 0.0003478" "{PMID:Goetz 2020:32893963}" "" "c.IVS40+5G>A, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000779200" "0" "30" "1" "94496602" "94496602" "subst" "0.0234538" "01695" "ABCA4_000913" "g.94496602G>T" "2957, 120728, 46, 0.02449" "{PMID:Goetz 2020:32893963}" "" "c.4203C>A, p.Pro1401Pro Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94031046G>T" "" "likely benign" ""
"0000779201" "0" "90" "1" "94487195" "94487195" "subst" "0" "01695" "ABCA4_001752" "g.94487195C>T" "" "{PMID:Goetz 2020:32893963}" "" "c.IVS34+1G>A, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94021639C>T" "" "pathogenic (recessive)" ""
"0000779202" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "13, 121216, 0, 0.0001072" "{PMID:Goetz 2020:32893963}" "" "c.768G>T, p.Val256Valabnlspl Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000779203" "0" "70" "1" "94490567" "94490567" "subst" "5.68528E-5" "01695" "ABCA4_000026" "g.94490567G>A" "4, 121406, 0, 0.00003295" "{PMID:Goetz 2020:32893963}" "" "c.4577C>T, p.Thr1526Met Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94025011G>A" "" "likely pathogenic (recessive)" ""
"0000779204" "0" "90" "1" "94471037" "94471037" "delins" "0" "01695" "ABCA4_001622" "g.94471037delinsAA" "" "{PMID:Goetz 2020:32893963}" "" "c.6107delAinsTT, p.Tyr2036Phefs*21 Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94005481delinsAA" "" "pathogenic (recessive)" ""
"0000779205" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Goetz 2020:32893963}" "" "c.5461-10T>CC, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000779206" "0" "70" "1" "94512478" "94512478" "subst" "3.65871E-5" "01695" "ABCA4_000678" "g.94512478G>T" "7, 121308, 0, 0.0000577" "{PMID:Goetz 2020:32893963}" "" "c.2915C>A, p.Thr972Asn Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94046922G>T" "" "likely pathogenic (recessive)" ""
"0000779207" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "5406, 121330, 156, 0.04456" "{PMID:Goetz 2020:32893963}" "" "c.5603A>T, p.Asp.Asn1868Ile Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000779208" "0" "90" "1" "94526154" "94526154" "subst" "4.06441E-6" "01695" "ABCA4_000752" "g.94526154C>T" "" "{PMID:Goetz 2020:32893963}" "" "c.2099G>A, p.Trp700* Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94060598C>T" "" "pathogenic (recessive)" ""
"0000779209" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Goetz 2020:32893963}" "" "c.5882G>A, p.Gly1961Glu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000779210" "0" "90" "1" "94486890" "94486893" "del" "0" "01695" "ABCA4_001741" "g.94486890_94486893del" "" "{PMID:Goetz 2020:32893963}" "" "c.4924_4927delAGCC, p.Ser1642Cysfs*19 Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94021334_94021337del" "" "pathogenic (recessive)" ""
"0000779211" "0" "70" "1" "94476425" "94476425" "subst" "8.12282E-6" "01695" "ABCA4_000419" "g.94476425A>G" "" "{PMID:Goetz 2020:32893963}" "" "c.5645T>C, p.Met1882Thr Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94010869A>G" "" "likely pathogenic (recessive)" ""
"0000779212" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Goetz 2020:32893963}" "" "c.2588G>C, p.Gly863Ala Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000779213" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "14, 121282, 0, 0.0001154" "{PMID:Goetz 2020:32893963}" "" "c.3322C>T, p.Arg1108Cys Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000779214" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "173, 121304, 0, 0.001426" "{PMID:Goetz 2020:32893963}" "" "c.3113C>T, p.Ala1038Val Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000779215" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "15, 121412, 0, 0.0001235" "{PMID:Goetz 2020:32893963}" "" "c.1622T>C, p.Leu541Pro Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000779216" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Goetz 2020:32893963}" "" "c.5882G>A, p.Gly1961Glu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000779217" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Goetz 2020:32893963}" "" "c.5461-10T>C, Intronic Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000779218" "0" "90" "1" "94508386" "94508386" "subst" "1.62443E-5" "01695" "ABCA4_000642" "g.94508386C>T" "4, 121376, 0, 0.00003296" "{PMID:Goetz 2020:32893963}" "" "c.3259G>A, p.Glu1087Lys Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94042830C>T" "" "pathogenic (recessive)" ""
"0000779219" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "173, 121304, 0, 0.001426" "{PMID:Goetz 2020:32893963}" "" "c.3113C>T, p.Ala1038Val Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000779220" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Goetz 2020:32893963}" "" "c.2588G>C, p.Gly863Ala Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000779221" "0" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "12, 60116, 0, 0.0001996" "{PMID:Goetz 2020:32893963}" "" "c.4469G>A, p.Cys1490Tyr Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94029515C>T" "" "likely pathogenic (recessive)" ""
"0000779222" "3" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "15, 121412, 0, 0.0001235" "{PMID:Goetz 2020:32893963}" "" "c.1622T>C, p.Leu541Pro Homozygous" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000779223" "3" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "173, 121304, 0, 0.001426" "{PMID:Goetz 2020:32893963}" "" "c.3113C>T, p.Ala1038Val Homozygous" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000779224" "3" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "15, 121412, 0, 0.0001235" "{PMID:Goetz 2020:32893963}" "" "c.1622T>C, p.Leu541Pro Homozygous" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000779225" "0" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "12, 60116, 0, 0.0001996" "{PMID:Goetz 2020:32893963}" "" "c.4469G>A, p.Cys1490Tyr heterozygous" "" "Unknown" "" "" "0" "" "" "g.94029515C>T" "" "likely pathogenic (recessive)" ""
"0000779226" "0" "50" "1" "94502756" "94502756" "subst" "0.000422575" "01695" "ABCA4_000032" "g.94502756G>A" "37, 121234, 1, 0.0003052" "{PMID:Goetz 2020:32893963}" "" "c.3758C>T, p.Thr1253Met Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94037200G>A" "" "VUS" ""
"0000779227" "0" "70" "1" "94487251" "94487251" "subst" "2.85679E-5" "01695" "ABCA4_000490" "g.94487251G>T" "3, 113672, 0, 0.00002639" "{PMID:Goetz 2020:32893963}" "" "c.4793C>A, p.Ala1598Asp Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94021695G>T" "" "likely pathogenic (recessive)" ""
"0000779228" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "173, 121304, 0, 0.001426" "{PMID:Goetz 2020:32893963}" "" "c.3113C>T, p.Ala1038Val Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000779229" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "15, 121412, 0, 0.0001235" "{PMID:Goetz 2020:32893963}" "" "c.1622T>C, p.Leu541Pro Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000779230" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "173, 121304, 0, 0.001426" "{PMID:Goetz 2020:32893963}" "" "c.3113C>T, p.Ala1038Val Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000779231" "0" "70" "1" "94466422" "94466422" "subst" "2.43651E-5" "01695" "ABCA4_000817" "g.94466422C>T" "3, 121398, 0, 0.00002471" "{PMID:Goetz 2020:32893963}" "" "c.6449G>A, p.Cys2150Tyr Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94000866C>T" "" "likely pathogenic (recessive)" ""
"0000779232" "0" "70" "1" "94586549" "94586549" "subst" "0" "01695" "ABCA4_001028" "g.94586549C>T" "" "{PMID:Goetz 2020:32893963}" "" "c.53G>A, p.Arg18Gln Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94120993C>T" "" "likely pathogenic (recessive)" ""
"0000779233" "0" "70" "1" "94480241" "94480241" "subst" "7.71705E-5" "01695" "ABCA4_000446" "g.94480241G>A" "14, 121408, 0, 0.0001153" "{PMID:Goetz 2020:32893963}" "" "c.5318 C>T GCG>GTG, p.Ala1773Val Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94014685G>A" "" "likely pathogenic (recessive)" ""
"0000779234" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "5406, 121330, 156, 0.04456" "{PMID:Goetz 2020:32893963}" "" "c.5603A>T, p.Asp.Asn1868Ile Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000779235" "0" "30" "1" "94496602" "94496602" "subst" "0.0234538" "01695" "ABCA4_000913" "g.94496602G>T" "2957, 120728, 46, 0.02449" "{PMID:Goetz 2020:32893963}" "" "c.4203C>A, p.Pro1401Pro Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94031046G>T" "" "likely benign" ""
"0000779236" "0" "70" "1" "94480241" "94480241" "subst" "7.71705E-5" "01695" "ABCA4_000446" "g.94480241G>A" "14, 121408, 0, 0.0001153" "{PMID:Goetz 2020:32893963}" "" "c.5318C>T, p.Ala1773Val Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94014685G>A" "" "likely pathogenic (recessive)" ""
"0000779237" "0" "70" "1" "94480241" "94480241" "subst" "7.71705E-5" "01695" "ABCA4_000446" "g.94480241G>A" "14, 121408, 0, 0.0001153" "{PMID:Goetz 2020:32893963}" "" "c.5318C>T, p.Ala1773Val Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94014685G>A" "" "likely pathogenic (recessive)" ""
"0000779238" "0" "90" "1" "94564442" "94564454" "del" "0" "01695" "ABCA4_000377" "g.94564442_94564454del" "" "{PMID:Goetz 2020:32893963}" "" "c.666_678del13, p.Lys223Metfs*14 Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94098886_94098898del" "" "pathogenic (recessive)" ""
"0000779239" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "15, 121412, 0, 0.0001235" "{PMID:Goetz 2020:32893963}" "" "c.1622T>C, p.Leu541Pro Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000779240" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "5406, 121330, 156, 0.04456" "{PMID:Goetz 2020:32893963}" "" "c.5603A>T, p.Asp.Asn1868Ile Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000779241" "0" "30" "1" "94496602" "94496602" "subst" "0.0234538" "01695" "ABCA4_000913" "g.94496602G>T" "2957, 120728, 46, 0.02449" "{PMID:Goetz 2020:32893963}" "" "c.4203C>A, p.Pro1401Pro Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94031046G>T" "" "likely benign" ""
"0000779242" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Goetz 2020:32893963}" "" "c.2588G>C, p.Gly863Ala Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000779243" "0" "70" "1" "94471055" "94471055" "subst" "0.00035346" "01695" "ABCA4_000029" "g.94471055C>T" "47, 121404, 1, 0.0003871" "{PMID:Goetz 2020:32893963}" "" "c.6089G>A, p.Arg2030Gln Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94005499C>T" "" "likely pathogenic (recessive)" ""
"0000779244" "0" "90" "1" "94509026" "94509026" "subst" "4.06497E-5" "01695" "ABCA4_000660" "g.94509026G>A" "5, 120988, 0, 0.00004133" "{PMID:Goetz 2020:32893963}" "" "c.3056C>T, p.Thr1019Met Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94043470G>A" "" "pathogenic (recessive)" ""
"0000779245" "0" "90" "1" "94568652" "94568655" "del" "0" "01695" "ABCA4_002204" "g.94568652_94568655del" "" "{PMID:Goetz 2020:32893963}" "" "c.488_491delTGAC, p.Leu163Hisfs*18 Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94103096_94103099del" "" "pathogenic (recessive)" ""
"0000779246" "0" "90" "1" "94508353" "94508353" "subst" "2.8431E-5" "01695" "ABCA4_000141" "g.94508353G>A" "4, 121358, 0, 0.00003296" "{PMID:Goetz 2020:32893963}" "" "c.3292C>T, p.Arg1098Cys Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94042797G>A" "" "pathogenic (recessive)" ""
"0000779247" "0" "90" "1" "94463488" "94463488" "subst" "5.2803E-5" "01695" "ABCA4_000802" "g.94463488G>A" "6, 121316, 0, 0.00004946" "{PMID:Goetz 2020:32893963}" "" "c.6658C>T, p.Gln2220* Heterozygous" "" "Unknown" "" "" "0" "" "" "g.93997932G>A" "" "pathogenic (recessive)" ""
"0000779248" "0" "70" "1" "94577135" "94577135" "subst" "2.43718E-5" "01695" "ABCA4_000240" "g.94577135C>T" "2, 121210, 0, 0.0000165" "{PMID:Goetz 2020:32893963}" "" "c.161G>A, p.Cys54Tyr Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94111579C>T" "" "likely pathogenic (recessive)" ""
"0000779249" "0" "70" "1" "94578533" "94578533" "subst" "8.12242E-6" "01695" "ABCA4_002239" "g.94578533A>C" "" "{PMID:Goetz 2020:32893963}" "" "c.156T>G, p.His52Gln Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94112977A>C" "" "likely pathogenic (recessive)" ""
"0000779250" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Goetz 2020:32893963}" "" "c.2588G>C, p.Gly863Ala Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000779251" "0" "50" "1" "94486888" "94486888" "subst" "3.65548E-5" "01695" "ABCA4_000137" "g.94486888G>C" "4, 121404, 0, 0.00003295" "{PMID:Goetz 2020:32893963}" "" "c.4926C>G, p.Ser1642Arg Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94021332G>C" "" "VUS" ""
"0000779252" "0" "70" "1" "94485279" "94485293" "del" "0" "01695" "ABCA4_000476" "g.94485279_94485293del" "" "{PMID:Goetz 2020:32893963}" "" "c.5044_5058del15, p.Val1682_Val1686del Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94019723_94019737del" "" "likely pathogenic (recessive)" ""
"0000779253" "0" "30" "1" "94506819" "94506819" "subst" "0.000105583" "01695" "ABCA4_001897" "g.94506819G>A" "" "{PMID:Goetz 2020:32893963}" "" "c.3468C>T, p.Tyr1156Tyr Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94041263G>A" "" "likely benign" ""
"0000779254" "0" "90" "1" "94502343" "94502343" "dup" "0" "01695" "ABCA4_000592" "g.94502343dup" "" "{PMID:Goetz 2020:32893963}" "" "c.3819dupT, p.Leu1274Serfs*8 Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94036787dup" "" "pathogenic (recessive)" ""
"0000779255" "0" "90" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "14, 120056, 0, 0.0001166" "{PMID:Goetz 2020:32893963}" "" "c.634C>T, p.Arg212Cys Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94098928G>A" "" "pathogenic (recessive)" ""
"0000779256" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "15, 121412, 0, 0.0001235" "{PMID:Goetz 2020:32893963}" "" "c.1622T>C, p.Leu541Pro Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000779257" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "173, 121304, 0, 0.001426" "{PMID:Goetz 2020:32893963}" "" "c.3113C>T, p.Ala1038Val Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000779258" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "173, 121304, 0, 0.001426" "{PMID:Goetz 2020:32893963}" "" "c.3113C>T, p.Ala1038Val Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000779259" "0" "70" "1" "94528143" "94528143" "subst" "0.00124448" "01695" "ABCA4_000076" "g.94528143C>T" "196, 121108, 1, 0.001618" "{PMID:Goetz 2020:32893963}" "" "c.1927G>A, p.Val643Met Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94062587C>T" "" "likely pathogenic (recessive)" ""
"0000779260" "0" "90" "1" "94528132" "94528132" "subst" "0" "01695" "ABCA4_002066" "g.94528132C>G" "" "{PMID:Goetz 2020:32893963}" "" "c.1937+1G>C, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94062576C>G" "" "pathogenic (recessive)" ""
"0000779261" "0" "70" "1" "94495086" "94495086" "subst" "0" "01695" "ABCA4_001811" "g.94495086G>A" "" "{PMID:Goetz 2020:32893963}" "" "c.4454C>T, p.Ser1485Leu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94029530G>A" "" "likely pathogenic (recessive)" ""
"0000779262" "0" "90" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "21, 121302, 0, 0.0001731" "{PMID:Goetz 2020:32893963}" "" "c.2894A>G, p.Asn965Ser Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94046943T>C" "" "pathogenic (recessive)" ""
"0000779263" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "5406, 121330, 156, 0.04456" "{PMID:Goetz 2020:32893963}" "" "c.5603A>T, p.Asp.Asn1868Ile Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000779264" "0" "30" "1" "94496602" "94496602" "subst" "0.0234538" "01695" "ABCA4_000913" "g.94496602G>T" "2957, 120728, 46, 0.02449" "{PMID:Goetz 2020:32893963}" "" "c.4203C>A, p.Pro1401Pro Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94031046G>T" "" "likely benign" ""
"0000779265" "0" "90" "1" "94486966" "94486966" "subst" "2.44021E-5" "01695" "ABCA4_001748" "g.94486966C>T" "" "{PMID:Goetz 2020:32893963}" "" "c.4849-1G>A, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94021410C>T" "" "pathogenic (recessive)" ""
"0000779266" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Goetz 2020:32893963}" "" "c.5882G>A, p.Gly1961Glu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000779267" "0" "90" "1" "94546047" "94546047" "subst" "0" "01695" "ABCA4_000150" "g.94546047A>T" "" "{PMID:Goetz 2020:32893963}" "" "c.1086T>A, p.Tyr362Stop Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94080491A>T" "" "pathogenic (recessive)" ""
"0000779268" "0" "70" "1" "94490567" "94490567" "subst" "5.68528E-5" "01695" "ABCA4_000026" "g.94490567G>A" "4, 121406, 0, 0.00003295" "{PMID:Goetz 2020:32893963}" "" "c.4577C>T, p.Thr1526Met Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94025011G>A" "" "likely pathogenic (recessive)" ""
"0000779269" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Goetz 2020:32893963}" "" "c.2588G>C, p.Gly863Ala Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000779270" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Goetz 2020:32893963}" "" "c.5882G>A, p.Gly1961Glu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000779271" "0" "90" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "227, 121250, 3, 0.001872" "{PMID:Goetz 2020:32893963}" "" "c.6320G>A, p.Arg2107His Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94001068C>T" "" "pathogenic (recessive)" ""
"0000779272" "0" "70" "1" "94496017" "94496017" "subst" "4.06075E-6" "01695" "ABCA4_000130" "g.94496017A>G" "" "{PMID:Goetz 2020:32893963}" "" "c.4319T>C, p.Phe1440Ser Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94030461A>G" "" "likely pathogenic (recessive)" ""
"0000779273" "0" "50" "1" "94577059" "94577059" "subst" "0.000686506" "01695" "ABCA4_000988" "g.94577059A>G" "" "{PMID:Goetz 2020:32893963}" "" "c.237T>C, p.(Asn79=) Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94111503A>G" "" "VUS" ""
"0000779274" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "15, 121412, 0, 0.0001235" "{PMID:Goetz 2020:32893963}" "" "c.1622T>C, p..Leu541Pro Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000779275" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "173, 121304, 0, 0.001426" "{PMID:Goetz 2020:32893963}" "" "c.3113C>T, p.Ala1038Val Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000779276" "0" "90" "1" "94480222" "94480222" "subst" "0" "01695" "ABCA4_000441" "g.94480222G>C" "" "{PMID:Goetz 2020:32893963}" "" "c.5337C>G, p.Tyr1779Ter Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94014666G>C" "" "pathogenic (recessive)" ""
"0000779277" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "24, 119274, 0, 0.0002012" "{PMID:Goetz 2020:32893963}" "" "c.4139C>T, p.Pro1380Leu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000779278" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Goetz 2020:32893963}" "" "c.2588G>C, p.Gly863Ala Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000779279" "0" "70" "1" "94466627" "94466627" "subst" "4.06408E-6" "01695" "ABCA4_000867" "g.94466627C>T" "" "{PMID:Goetz 2020:32893963}" "" "c.6317G>A, p.Arg2106His Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94001071C>T" "" "likely pathogenic (recessive)" ""
"0000779280" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "26, 121404, 0, 0.0002142" "{PMID:Goetz 2020:32893963}" "" "c.6079C>T, p.Leu2027Phe Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic (recessive)" ""
"0000779281" "0" "90" "1" "94510248" "94510248" "subst" "0.000544123" "01695" "ABCA4_000107" "g.94510248C>G" "87, 121410, 0, 0.0007166" "{PMID:Goetz 2020:32893963}" "" "c.2971G>C, p.Gly991Arg Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94044692C>G" "" "pathogenic (recessive)" ""
"0000779282" "0" "70" "1" "94510164" "94510164" "subst" "1.62441E-5" "01695" "ABCA4_000144" "g.94510164C>T" "2, 121386, 0, 0.00001648" "{PMID:Goetz 2020:32893963}" "" "c.IVS20+5G>A, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94044608C>T" "" "likely pathogenic (recessive)" ""
"0000779283" "0" "70" "1" "94528818" "94528818" "subst" "0.00205975" "01695" "ABCA4_001239" "g.94528818C>T" "239, 121412, 0, 0.001969" "{PMID:Goetz 2020:32893963}" "" "c.1610G>A, p.Arg537His Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94063262C>T" "" "likely pathogenic (recessive)" ""
"0000779284" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "24, 119274, 0, 0.0002012" "{PMID:Goetz 2020:32893963}" "" "c.4139C>T, p.Pro1380Leu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000779285" "0" "70" "1" "94546177" "94546177" "subst" "0" "01695" "ABCA4_001047" "g.94546177A>C" "" "{PMID:Goetz 2020:32893963}" "" "c.956T>G, p.Leu319rg Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94080621A>C" "" "likely pathogenic (recessive)" ""
"0000779286" "0" "70" "1" "94490567" "94490567" "subst" "5.68528E-5" "01695" "ABCA4_000026" "g.94490567G>A" "4, 121406, 0, 0.00003295" "{PMID:Goetz 2020:32893963}" "" "c.4577C>T, p.Thr1526Met Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94025011G>A" "" "likely pathogenic (recessive)" ""
"0000779287" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "24, 119274, 0, 0.0002012" "{PMID:Goetz 2020:32893963}" "" "c.4139C>T, p.Pro1380Leu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000779288" "0" "90" "1" "94471056" "94471056" "subst" "2.84398E-5" "01695" "ABCA4_000050" "g.94471056G>A" "3, 121402, 0, 0.00002471" "{PMID:Goetz 2020:32893963}" "" "c.6088C>T, p.Arg2030Stop Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94005500G>A" "" "pathogenic (recessive)" ""
"0000779289" "0" "50" "1" "94473263" "94473263" "subst" "0" "01695" "ABCA4_000097" "g.94473263T>C" "" "{PMID:Goetz 2020:32893963}" "" "c.5932A>G, p.Lys1978Glu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94007707T>C" "" "VUS" ""
"0000779290" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "6, 119038, 0, 0.0000504" "{PMID:Goetz 2020:32893963}" "" "c.1804C>T, p.Arg602Trp Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94062710G>A" "" "pathogenic (recessive)" ""
"0000779291" "0" "70" "1" "94496017" "94496017" "subst" "4.06075E-6" "01695" "ABCA4_000130" "g.94496017A>G" "" "{PMID:Goetz 2020:32893963}" "" "c.4319T>C, p.Phe1440Ser Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94030461A>G" "" "likely pathogenic (recessive)" ""
"0000779292" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Goetz 2020:32893963}" "" "c.5882G>A, p.Gly1961Glu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000779293" "0" "70" "1" "94487427" "94487427" "subst" "8.12176E-6" "01695" "ABCA4_001339" "g.94487427A>G" "1, 121334, 0, 0.000008242" "{PMID:Goetz 2020:32893963}" "" "c.4748T>C, p.Leu1583Pro Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94021871A>G" "" "likely pathogenic (recessive)" ""
"0000779294" "0" "50" "1" "94506874" "94506874" "subst" "0" "01695" "ABCA4_000104" "g.94506874A>G" "" "{PMID:Goetz 2020:32893963}" "" "c.3413T>C, p.Leu1138Pro Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94041318A>G" "" "VUS" ""
"0000779295" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Goetz 2020:32893963}" "" "c.5461-10T>CC, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000779296" "0" "90" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "227, 121250, 3, 0.001872" "{PMID:Goetz 2020:32893963}" "" "c.6320G>A, p.Arg2107His Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94001068C>T" "" "pathogenic (recessive)" ""
"0000779297" "0" "90" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "14, 120056, 0, 0.0001166" "{PMID:Goetz 2020:32893963}" "" "c.634C>T, p.Arg212Cys Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94098928G>A" "" "pathogenic (recessive)" ""
"0000779298" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "173, 121304, 0, 0.001426" "{PMID:Goetz 2020:32893963}" "" "c.3113C>T, p.Ala1038Val Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000779299" "0" "70" "1" "94564500" "94564500" "subst" "0.00100414" "01695" "ABCA4_000069" "g.94564500G>C" "162, 118200, 0, 0.001371" "{PMID:Goetz 2020:32893963}" "" "c.618C>G, p.Ser206Arg Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94098944G>C" "" "likely pathogenic (recessive)" ""
"0000779300" "0" "70" "1" "94544235" "94544235" "subst" "0.0001137" "01695" "ABCA4_000939" "g.94544235G>A" "" "{PMID:Goetz 2020:32893963}" "" "c.1267C>T, p.His423Cys Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94078679G>A" "" "likely pathogenic (recessive)" ""
"0000779301" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Goetz 2020:32893963}" "" "c.5461-10T>C, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000779302" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Goetz 2020:32893963}" "" "c.5882G>A, p.Gly1961Glu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000779303" "0" "90" "1" "94485137" "94485137" "subst" "0" "01695" "ABCA4_000464" "g.94485137C>T" "3, 49858, 0, 0.00006017" "{PMID:Goetz 2020:32893963}" "" "c.5196+1G>A, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94019581C>T" "" "pathogenic (recessive)" ""
"0000779304" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "42, 120772, 0, 0.0003478" "{PMID:Goetz 2020:32893963}" "" "c.5714+5G>A, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000779305" "0" "50" "1" "94514466" "94514466" "subst" "0.00192081" "01695" "ABCA4_000008" "g.94514466T>C" "212, 121284, 0, 0.001748" "{PMID:Goetz 2020:32893963}" "" "c.2701A>G, p.Thr901Ala Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94048910T>C" "" "VUS" ""
"0000779306" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Goetz 2020:32893963}" "" "c.5882G>A, p.Gly1961Glu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000779307" "0" "70" "1" "94522198" "94522198" "subst" "3.65952E-5" "01695" "ABCA4_002039" "g.94522198C>T" "" "{PMID:Goetz 2020:32893963}" "" "c.2341G>A, p.Ala781Thr Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94056642C>T" "" "likely pathogenic (recessive)" ""
"0000779308" "0" "90" "1" "94471026" "94471026" "subst" "1.21925E-5" "01695" "ABCA4_000791" "g.94471026G>A" "2, 121394, 0, 0.00001648" "{PMID:Goetz 2020:32893963}" "" "c.6118C>T, p.Arg2040* Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94005470G>A" "" "pathogenic (recessive)" ""
"0000779309" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "26, 121404, 0, 0.0002142" "{PMID:Goetz 2020:32893963}" "" "c.6079C>T, p.Leu2027Phe Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic (recessive)" ""
"0000779310" "0" "90" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "227, 121250, 3, 0.001872" "{PMID:Goetz 2020:32893963}" "" "c.6320G>A, p.Arg2107His Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94001068C>T" "" "pathogenic (recessive)" ""
"0000779311" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "13, 121216, 0, 0.0001072" "{PMID:Goetz 2020:32893963}" "" "c.768G>T, p.Val256Valabnlspl Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000779312" "0" "90" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "227, 121250, 3, 0.001872" "{PMID:Goetz 2020:32893963}" "" "c.6320G>A, p.Arg2107His Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94001068C>T" "" "pathogenic (recessive)" ""
"0000779313" "0" "70" "1" "94496009" "94496009" "subst" "2.03051E-5" "01695" "ABCA4_001825" "g.94496009G>A" "" "{PMID:Goetz 2020:32893963}" "" "c.4327C>T, p.Arg1443Cys Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94030453G>A" "" "likely pathogenic (recessive)" ""
"0000779314" "0" "70" "1" "94578594" "94578594" "subst" "0" "01695" "ABCA4_001327" "g.94578594G>A" "" "{PMID:Goetz 2020:32893963}" "" "c.95C>T, p.Pro32Leu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94113038G>A" "" "likely pathogenic (recessive)" ""
"0000779315" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Goetz 2020:32893963}" "" "c.5461-10T>C, IVS38-10T>C Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000779316" "0" "70" "1" "94490567" "94490567" "subst" "5.68528E-5" "01695" "ABCA4_000026" "g.94490567G>A" "4, 121406, 0, 0.00003295" "{PMID:Goetz 2020:32893963}" "" "c.4577C>T, p.Thr1526Met Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94025011G>A" "" "likely pathogenic (recessive)" ""
"0000779317" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "24, 119274, 0, 0.0002012" "{PMID:Goetz 2020:32893963}" "" "c.4139C>T, p.Pro1380Leu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000779318" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "173, 121304, 0, 0.001426" "{PMID:Goetz 2020:32893963}" "" "c.3113C>T, p.Ala1038Val Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000779319" "0" "50" "1" "94486888" "94486888" "subst" "3.65548E-5" "01695" "ABCA4_000137" "g.94486888G>C" "4, 121404, 0, 0.00003295" "{PMID:Goetz 2020:32893963}" "" "c.4926C>G, p.Ser1642Arg Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94021332G>C" "" "VUS" ""
"0000779320" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Goetz 2020:32893963}" "" "c.5882G>A, p.Gly1961Glu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000779321" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Goetz 2020:32893963}" "" "c.5461-10T>C, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000779322" "0" "70" "1" "94564500" "94564500" "subst" "0.00100414" "01695" "ABCA4_000069" "g.94564500G>C" "162, 118200, 0, 0.001371" "{PMID:Goetz 2020:32893963}" "" "c.618C>G, p.Ser206Arg Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94098944G>C" "" "likely pathogenic (recessive)" ""
"0000779323" "0" "90" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "14, 120056, 0, 0.0001166" "{PMID:Goetz 2020:32893963}" "" "c.634C>T, p.Arg212Cys Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94098928G>A" "" "pathogenic (recessive)" ""
"0000779324" "0" "50" "1" "94486860" "94486860" "subst" "0" "01695" "ABCA4_000153" "g.94486860A>C" "" "{PMID:Goetz 2020:32893963}" "" "c.4954T>G, p.Tyr1652Asp Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94021304A>C" "" "VUS" ""
"0000779325" "0" "90" "1" "94487436" "94487441" "delins" "0" "01695" "ABCA4_001761" "g.94487436_94487441delinsGG" "" "{PMID:Goetz 2020:32893963}" "" "c.4734_4739delGTTTTTinsCC, p.Phe1579GlnfsX8 Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94021880_94021885delinsGG" "" "pathogenic (recessive)" ""
"0000779326" "0" "90" "1" "94486966" "94486966" "subst" "2.44021E-5" "01695" "ABCA4_001748" "g.94486966C>T" "" "{PMID:Goetz 2020:32893963}" "" "c.4849-1G>A, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94021410C>T" "" "pathogenic (recessive)" ""
"0000779327" "0" "70" "1" "94495077" "94495077" "subst" "0" "01695" "ABCA4_000184" "g.94495077C>T" "" "{PMID:Goetz 2020:32893963}" "" "c.4463G>A, p.Cys1488Tyr Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94029521C>T" "" "likely pathogenic (recessive)" ""
"0000779328" "0" "70" "1" "94490567" "94490567" "subst" "5.68528E-5" "01695" "ABCA4_000026" "g.94490567G>A" "4, 121406, 0, 0.00003295" "{PMID:Goetz 2020:32893963}" "" "c.4577C>T, p.Thr1526Met Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94025011G>A" "" "likely pathogenic (recessive)" ""
"0000779329" "0" "70" "1" "94509018" "94509018" "subst" "8.12869E-6" "01695" "ABCA4_000659" "g.94509018C>T" "1, 121086, 0, 0.000008259" "{PMID:Goetz 2020:32893963}" "" "c.3064G>A, p.Glu1022Lys Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94043462C>T" "" "likely pathogenic (recessive)" ""
"0000779330" "0" "70" "1" "94543340" "94543340" "subst" "7.71868E-5" "01695" "ABCA4_002119" "g.94543340C>T" "13, 121406, 0, 0.0001071" "{PMID:Goetz 2020:32893963}" "" "c.1460G>A, p.Arg487Gln Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94077784C>T" "" "likely pathogenic (recessive)" ""
"0000779331" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "42, 120772, 0, 0.0003478" "{PMID:Goetz 2020:32893963}" "" "c.5714+5G>A, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000779332" "0" "70" "1" "94486896" "94486896" "subst" "3.65562E-5" "01695" "ABCA4_000085" "g.94486896G>A" "1, 121394, 0, 0.000008238" "{PMID:Goetz 2020:32893963}" "" "c.4918C>T, p.Arg1640Trp Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94021340G>A" "" "likely pathogenic (recessive)" ""
"0000779333" "0" "70" "1" "94496583" "94496583" "subst" "2.03092E-5" "01695" "ABCA4_000190" "g.94496583A>G" "1, 120898, 0, 0.000008271" "{PMID:Goetz 2020:32893963}" "" "c.4222T>C, p.Trp1408Arg Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94031027A>G" "" "likely pathogenic (recessive)" ""
"0000779334" "0" "70" "1" "94510299" "94510299" "subst" "4.06072E-6" "01695" "ABCA4_000674" "g.94510299A>G" "1, 121404, 0, 0.000008237" "{PMID:Goetz 2020:32893963}" "" "c.2920T>C, p.Ser974Pro Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94044743A>G" "" "likely pathogenic (recessive)" ""
"0000779335" "0" "50" "1" "94564544" "94564544" "subst" "0.000432798" "01695" "ABCA4_000383" "g.94564544C>T" "63, 98822, 0, 0.0006375" "{PMID:Goetz 2020:32893963}" "" "c.574G>A, p.Ala192Thr Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94098988C>T" "" "VUS" ""
"0000779336" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Goetz 2020:32893963}" "" "c.5461-10T>C, Splicing Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000779337" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "24, 119274, 0, 0.0002012" "{PMID:Goetz 2020:32893963}" "" "c.4139C>T, p.Pro1380Leu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000779338" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "26, 121404, 0, 0.0002142" "{PMID:Goetz 2020:32893963}" "" "c.6079C>T, p.Leu2027Phe Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic (recessive)" ""
"0000779339" "0" "70" "1" "94577135" "94577135" "subst" "2.43718E-5" "01695" "ABCA4_000240" "g.94577135C>T" "2, 121210, 0, 0.0000165" "{PMID:Goetz 2020:32893963}" "" "c.161G>A, p.Cys54Tyr Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94111579C>T" "" "likely pathogenic (recessive)" ""
"0000779340" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Goetz 2020:32893963}" "" "c.5461-10T>C, IVS38-10T>C Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000779341" "0" "90" "1" "94544185" "94544185" "subst" "8.12137E-6" "01695" "ABCA4_000177" "g.94544185C>T" "1, 121412, 0, 0.000008236" "{PMID:Goetz 2020:32893963}" "" "c.1317G>A, p.Trp439Stop Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94078629C>T" "" "pathogenic (recessive)" ""
"0000779342" "0" "50" "1" "94564462" "94564462" "subst" "4.06775E-5" "01695" "ABCA4_000380" "g.94564462C>G" "5, 120978, 0, 0.00004133" "{PMID:Goetz 2020:32893963}" "" "c.656G>C, p.Arg219Thr Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94098906C>G" "" "VUS" ""
"0000779343" "0" "90" "1" "94544185" "94544185" "subst" "8.12137E-6" "01695" "ABCA4_000177" "g.94544185C>T" "1, 121412, 0, 0.000008236" "{PMID:Goetz 2020:32893963}" "" "c.1317G>A, p.Trp439* Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94078629C>T" "" "pathogenic (recessive)" ""
"0000779344" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Goetz 2020:32893963}" "" "c.2588G>C, p.Gly863Ala Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000779345" "0" "90" "1" "94544185" "94544185" "subst" "8.12137E-6" "01695" "ABCA4_000177" "g.94544185C>T" "1, 121412, 0, 0.000008236" "{PMID:Goetz 2020:32893963}" "" "c.1317G>A, p.Trp439* Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94078629C>T" "" "pathogenic (recessive)" ""
"0000779346" "0" "90" "1" "94544185" "94544185" "subst" "8.12137E-6" "01695" "ABCA4_000177" "g.94544185C>T" "1, 121412, 0, 0.000008236" "{PMID:Goetz 2020:32893963}" "" "c.1317G>A, p.Trp439Stop Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94078629C>T" "" "pathogenic (recessive)" ""
"0000779347" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "15, 121412, 0, 0.0001235" "{PMID:Goetz 2020:32893963}" "" "c.1622T>C, p.Leu541Pro Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000779348" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "173, 121304, 0, 0.001426" "{PMID:Goetz 2020:32893963}" "" "c.3113C>T, p.Ala1038Val Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000779349" "0" "70" "1" "94577073" "94577073" "subst" "0" "01695" "ABCA4_000231" "g.94577073A>C" "" "{PMID:Goetz 2020:32893963}" "" "c.223T>G, p.Cys75Gly Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94111517A>C" "" "likely pathogenic (recessive)" ""
"0000779350" "0" "50" "1" "94514477" "94514477" "subst" "0.00118992" "01695" "ABCA4_000700" "g.94514477G>A" "138, 121252, 1, 0.001138" "{PMID:Goetz 2020:32893963}" "" "c.2690C>T, p.Thr897Ile Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94048921G>A" "" "VUS" ""
"0000779351" "0" "90" "1" "94586557" "94586557" "subst" "4.06134E-6" "01695" "ABCA4_000259" "g.94586557C>T" "" "{PMID:Goetz 2020:32893963}" "" "c.45G>A, p.Trp15Stop Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94121001C>T" "" "pathogenic (recessive)" ""
"0000779352" "0" "70" "1" "94471154" "94471154" "subst" "0.156733" "01695" "ABCA4_000881" "g.94471154C>T" "" "{PMID:Goetz 2020:32893963}" "" "c.IVS43-16G>A, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94005598C>T" "" "likely pathogenic (recessive)" ""
"0000779353" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "13, 121216, 0, 0.0001072" "{PMID:Goetz 2020:32893963}" "" "c.768G>T, p.Val256Valabnlspl Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000779354" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "15, 121412, 0, 0.0001235" "{PMID:Goetz 2020:32893963}" "" "c.1622T>C, p.Leu541Pro Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000779355" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "173, 121304, 0, 0.001426" "{PMID:Goetz 2020:32893963}" "" "c.3113C>T, p.Ala1038Val Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000779356" "0" "70" "1" "94546207" "94546207" "subst" "0.000101665" "01695" "ABCA4_000083" "g.94546207G>C" "16, 121336, 0, 0.0001319" "{PMID:Goetz 2020:32893963}" "" "c.926C>G, p.Pro309rg Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94080651G>C" "" "likely pathogenic (recessive)" ""
"0000779357" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Goetz 2020:32893963}" "" "c.5461-10T>C, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000779358" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Goetz 2020:32893963}" "" "c.5882G>A, p.Gly1961Glu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000779359" "3" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Goetz 2020:32893963}" "" "c.5882G>A, p.Gly1961Glu Homozygous" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000779360" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "5406, 121330, 156, 0.04456" "{PMID:Goetz 2020:32893963}" "" "c.5603A>T, p.Asp.Asn1868Ile Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000779361" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "173, 121304, 0, 0.001426" "{PMID:Goetz 2020:32893963}" "" "c.3113C>T, p.Ala1038Val Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000779362" "0" "50" "1" "94480146" "94480146" "subst" "2.84273E-5" "01695" "ABCA4_000122" "g.94480146T>C" "2, 121410, 0, 0.00001647" "{PMID:Goetz 2020:32893963}" "" "c.5413A>G, p.Asn1805Asp Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94014590T>C" "" "VUS" ""
"0000779363" "0" "90" "1" "94508435" "94508436" "dup" "0" "01695" "ABCA4_000998" "g.94508435_94508436dup" "" "{PMID:Goetz 2020:32893963}" "" "c.3210_3211dupGT, p.Ser1071CysfsX14 Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94042879_94042880dup" "" "pathogenic (recessive)" ""
"0000779364" "0" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "12, 60116, 0, 0.0001996" "{PMID:Goetz 2020:32893963}" "" "c.4469G>A, p.Cys1490Tyr Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94029515C>T" "" "likely pathogenic (recessive)" ""
"0000779365" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "173, 121304, 0, 0.001426" "{PMID:Goetz 2020:32893963}" "" "c.3113C>T, p.Ala1038Val Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000779366" "0" "70" "1" "94506902" "94506902" "subst" "1.21834E-5" "01695" "ABCA4_000623" "g.94506902G>A" "2, 121396, 0, 0.00001648" "{PMID:Goetz 2020:32893963}" "" "c.3385C>T, p.Arg1129Cys Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94041346G>A" "" "likely pathogenic (recessive)" ""
"0000779367" "0" "70" "1" "94577102" "94577102" "subst" "4.06161E-6" "01695" "ABCA4_000033" "g.94577102C>T" "" "{PMID:Goetz 2020:32893963}" "" "c.194G>A, p.Gly65Glu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94111546C>T" "" "likely pathogenic (recessive)" ""
"0000779368" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Goetz 2020:32893963}" "" "c.5882G>A, p.Gly1961Glu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000779369" "0" "50" "1" "94467548" "94467548" "subst" "0.00295661" "01695" "ABCA4_000788" "g.94467548C>G" "334, 121350, 0, 0.002752" "{PMID:Goetz 2020:32893963}" "" "c.6148G>C, p.Val2050Leu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94001992C>G" "" "VUS" ""
"0000779370" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "24, 119274, 0, 0.0002012" "{PMID:Goetz 2020:32893963}" "" "c.4139C>T, p.Pro1380Leu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000779371" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Goetz 2020:32893963}" "" "c.2588G>C, p.Gly863Ala Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000779372" "0" "10" "1" "94505604" "94505604" "subst" "0.00645586" "01695" "ABCA4_000092" "g.94505604A>C" "879, 64452, 44, 0.01364" "{PMID:Goetz 2020:32893963}" "" "c.3602T>G, p.Leu1201Arg Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94040048A>C" "" "benign" ""
"0000779373" "0" "70" "1" "94528143" "94528143" "subst" "0.00124448" "01695" "ABCA4_000076" "g.94528143C>T" "196, 121108, 1, 0.001618" "{PMID:Goetz 2020:32893963}" "" "c.1927G>A, p.Val643Met Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94062587C>T" "" "likely pathogenic (recessive)" ""
"0000779374" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "173, 121304, 0, 0.001426" "{PMID:Goetz 2020:32893963}" "" "c.3113C>T, p.Ala1038Val Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000779375" "0" "90" "1" "94467460" "94467461" "del" "0" "01695" "ABCA4_000778" "g.94467460_94467461del" "" "{PMID:Goetz 2020:32893963}" "" "c.6238_6239delTCACTC{TC}CACA, p.Ser2080Hisfs*16 Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94001904_94001905del" "" "pathogenic (recessive)" ""
"0000779376" "0" "90" "1" "94466628" "94466628" "subst" "0.000109748" "01695" "ABCA4_000094" "g.94466628G>A" "14, 121222, 0, 0.0001155" "{PMID:Goetz 2020:32893963}" "" "c.6316C>T, p.Arg2106Cys Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94001072G>A" "" "pathogenic (recessive)" ""
"0000779377" "0" "50" "1" "94520708" "94520708" "subst" "0.00102774" "01695" "ABCA4_000074" "g.94520708A>G" "162, 121382, 1, 0.001335" "{PMID:Goetz 2020:32893963}" "" "c.2546T>C, p.Val849la Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94055152A>G" "" "VUS" ""
"0000779378" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "6, 119038, 0, 0.0000504" "{PMID:Goetz 2020:32893963}" "" "c.1804C>T, p.Arg602Trp Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94062710G>A" "" "pathogenic (recessive)" ""
"0000779379" "0" "50" "1" "94487490" "94487490" "subst" "0.00122268" "01695" "ABCA4_000506" "g.94487490A>G" "158, 121114, 0, 0.001305" "{PMID:Goetz 2020:32893963}" "" "c.4685T>C, p.Ile1562Thr Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94021934A>G" "" "VUS" ""
"0000779380" "0" "90" "1" "94509026" "94509026" "subst" "4.06497E-5" "01695" "ABCA4_000660" "g.94509026G>A" "5, 120988, 0, 0.00004133" "{PMID:Goetz 2020:32893963}" "" "c.3056C>T, p.Thr1019Met Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94043470G>A" "" "pathogenic (recessive)" ""
"0000779381" "3" "70" "1" "94490588" "94490588" "subst" "6.90361E-5" "01695" "ABCA4_001498" "g.94490588G>A" "" "{PMID:Goetz 2020:32893963}" "" "c.4556C>T, p.Thr1519Met* Homozygous" "" "Unknown" "" "" "0" "" "" "g.94025032G>A" "" "likely pathogenic (recessive)" ""
"0000779382" "3" "50" "1" "94512541" "94512541" "subst" "0" "01695" "ABCA4_000066" "g.94512541A>G" "" "{PMID:Goetz 2020:32893963}" "" "c.2852T>C, p.Ile951Thr* Homozygous" "" "Unknown" "" "" "0" "" "" "g.94046985A>G" "" "VUS" ""
"0000779383" "3" "70" "1" "94490588" "94490588" "subst" "6.90361E-5" "01695" "ABCA4_001498" "g.94490588G>A" "" "{PMID:Goetz 2020:32893963}" "" "c.4556C>T, p.Thr1519Met* Homozygous" "" "Unknown" "" "" "0" "" "" "g.94025032G>A" "" "likely pathogenic (recessive)" ""
"0000779384" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Goetz 2020:32893963}" "" "c.5882G>A, p.Gly1961Glu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000779385" "0" "90" "1" "94510248" "94510248" "subst" "0.000544123" "01695" "ABCA4_000107" "g.94510248C>G" "87, 121410, 0, 0.0007166" "{PMID:Goetz 2020:32893963}" "" "c.2971G>C, p.Gly991Arg Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94044692C>G" "" "pathogenic (recessive)" ""
"0000779386" "0" "50" "1" "94463425" "94463425" "subst" "0.000109787" "01695" "ABCA4_000853" "g.94463425G>C" "20, 121058, 0, 0.0001652" "{PMID:Goetz 2020:32893963}" "" "c.6721C>G, p.Leu2241Val Heterozygous" "" "Unknown" "" "" "0" "" "" "g.93997869G>C" "" "VUS" ""
"0000779387" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "6, 119038, 0, 0.0000504" "{PMID:Goetz 2020:32893963}" "" "c.1804C>T, p.Arg602Trp Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94062710G>A" "" "pathogenic (recessive)" ""
"0000779388" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "24, 119274, 0, 0.0002012" "{PMID:Goetz 2020:32893963}" "" "c.4139C>T, p.Pro1380Leu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000779389" "0" "70" "1" "94496583" "94496583" "subst" "2.03092E-5" "01695" "ABCA4_000190" "g.94496583A>G" "1, 120898, 0, 0.000008271" "{PMID:Goetz 2020:32893963}" "" "c.4222T>C, p.Trp1408Arg heterozygous" "" "Unknown" "" "" "0" "" "" "g.94031027A>G" "" "likely pathogenic (recessive)" ""
"0000779390" "0" "90" "1" "94506884" "94506884" "subst" "0" "01695" "ABCA4_001903" "g.94506884G>A" "" "{PMID:Goetz 2020:32893963}" "" "c.3403C>T, p.Gln1135Stop Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94041328G>A" "" "pathogenic (recessive)" ""
"0000779391" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Goetz 2020:32893963}" "" "c.2588G>C, p.Gly863Ala Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000779392" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "173, 121304, 0, 0.001426" "{PMID:Goetz 2020:32893963}" "" "c.3113C>T, p.Ala1038Val Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000779393" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Goetz 2020:32893963}" "" "c.2588G>C, p.Gly863Ala Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000779394" "0" "90" "1" "94495009" "94495009" "dup" "0" "01695" "ABCA4_000087" "g.94495009dup" "" "{PMID:Goetz 2020:32893963}" "" "c.4537dupC, p.Gln1513ProfsX42 Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94029453dup" "" "pathogenic (recessive)" ""
"0000779395" "0" "90" "1" "94471026" "94471026" "subst" "1.21925E-5" "01695" "ABCA4_000791" "g.94471026G>A" "2, 121394, 0, 0.00001648" "{PMID:Goetz 2020:32893963}" "" "c.6118C>T, p.Arg2040Stop Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94005470G>A" "" "pathogenic (recessive)" ""
"0000779396" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Goetz 2020:32893963}" "" "c.5882G>A, p.Gly1961Glu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000779397" "0" "70" "1" "94463499" "94463499" "subst" "1.21857E-5" "01695" "ABCA4_001568" "g.94463499G>A" "" "{PMID:Goetz 2020:32893963}" "" "c.6647C>T, p.Ala2216Val Heterozygous" "" "Unknown" "" "" "0" "" "" "g.93997943G>A" "" "likely pathogenic (recessive)" ""
"0000779398" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "24, 119274, 0, 0.0002012" "{PMID:Goetz 2020:32893963}" "" "c.4139C>T, p.Pro1380Leu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000779399" "0" "50" "1" "94463425" "94463425" "subst" "0.000109787" "01695" "ABCA4_000853" "g.94463425G>C" "20, 121058, 0, 0.0001652" "{PMID:Goetz 2020:32893963}" "" "c.6721C>G, p.Leu2241Val Heterozygous" "" "Unknown" "" "" "0" "" "" "g.93997869G>C" "" "VUS" ""
"0000779400" "0" "90" "1" "94486934" "94486934" "del" "1.62529E-5" "01695" "ABCA4_001745" "g.94486934del" "" "{PMID:Goetz 2020:32893963}" "" "c.4880delT, p.Leu1627Argfs*35 Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94021378del" "" "pathogenic (recessive)" ""
"0000779401" "0" "90" "1" "94528251" "94528251" "subst" "2.84824E-5" "01695" "ABCA4_000281" "g.94528251C>T" "3, 119908, 0, 0.00002502" "{PMID:Goetz 2020:32893963}" "" "c.1819G>A, p.Gly607Arg Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94062695C>T" "" "pathogenic (recessive)" ""
"0000779402" "0" "90" "1" "94486794" "94486794" "subst" "0" "01695" "ABCA4_000479" "g.94486794A>T" "" "{PMID:Goetz 2020:32893963}" "" "c.5018+2T>A, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94021238A>T" "" "pathogenic (recessive)" ""
"0000779403" "0" "90" "1" "94509026" "94509026" "subst" "4.06497E-5" "01695" "ABCA4_000660" "g.94509026G>A" "5, 120988, 0, 0.00004133" "{PMID:Goetz 2020:32893963}" "" "c.3056C>T, p.Thr1019Met Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94043470G>A" "" "pathogenic (recessive)" ""
"0000779404" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Goetz 2020:32893963}" "" "c.5882G>A, p.Gly1961Glu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000779405" "0" "70" "1" "94508340" "94508340" "subst" "0" "01695" "ABCA4_001923" "g.94508340T>G" "" "{PMID:Goetz 2020:32893963}" "" "c.3305A>C, p.Asp1102Ala Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94042784T>G" "" "likely pathogenic (recessive)" ""
"0000779406" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "24, 119274, 0, 0.0002012" "{PMID:Goetz 2020:32893963}" "" "c.4139C>T, p.Pro1380Leu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000779407" "0" "90" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "227, 121250, 3, 0.001872" "{PMID:Goetz 2020:32893963}" "" "c.6320G>A, p.Arg2107His Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94001068C>T" "" "pathogenic (recessive)" ""
"0000779408" "0" "90" "1" "94467507" "94467507" "subst" "0" "01695" "ABCA4_001606" "g.94467507G>T" "" "{PMID:Goetz 2020:32893963}" "" "c.6189C>A, p.Tyr2063Stop Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94001951G>T" "" "pathogenic (recessive)" ""
"0000779409" "0" "70" "1" "94480241" "94480241" "subst" "7.71705E-5" "01695" "ABCA4_000446" "g.94480241G>A" "14, 121408, 0, 0.0001153" "{PMID:Goetz 2020:32893963}" "" "c.5318C>T, p.Ala1773Val Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94014685G>A" "" "likely pathogenic (recessive)" ""
"0000779410" "0" "90" "1" "94578597" "94578597" "subst" "0" "01695" "ABCA4_000250" "g.94578597C>T" "" "{PMID:Goetz 2020:32893963}" "" "c.92G>A, p.Trp31Stop Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94113041C>T" "" "pathogenic (recessive)" ""
"0000779411" "0" "70" "1" "94586565" "94586565" "subst" "0" "01695" "ABCA4_002249" "g.94586565T>C" "" "{PMID:Goetz 2020:32893963}" "" "c.37A>G, p.Lys13Glu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94121009T>C" "" "likely pathogenic (recessive)" ""
"0000779412" "0" "90" "1" "94497351" "94497351" "subst" "0" "01695" "ABCA4_001850" "g.94497351T>A" "" "{PMID:Goetz 2020:32893963}" "" "c.4111A>T, p.Lys1371* Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94031795T>A" "" "pathogenic (recessive)" ""
"0000779413" "0" "70" "1" "94466480" "94466480" "subst" "4.06088E-6" "01695" "ABCA4_000827" "g.94466480C>T" "" "{PMID:Goetz 2020:32893963}" "" "c.6391G>A, p.Glu2131Lys Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94000924C>T" "" "likely pathogenic (recessive)" ""
"0000779414" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Goetz 2020:32893963}" "" "c.5461-10T>C, Intronic Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000779415" "0" "30" "1" "94496602" "94496602" "subst" "0.0234538" "01695" "ABCA4_000913" "g.94496602G>T" "2957, 120728, 46, 0.02449" "{PMID:Goetz 2020:32893963}" "" "c.4203C>A, p.Pro1401Pro Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94031046G>T" "" "likely benign" ""
"0000779416" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "5406, 121330, 156, 0.04456" "{PMID:Goetz 2020:32893963}" "" "c.5603A>T, p.Asp.Asn1868Ile Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000779417" "0" "70" "1" "94486895" "94486895" "subst" "3.24923E-5" "01695" "ABCA4_000484" "g.94486895C>T" "7, 121398, 0, 0.00005766" "{PMID:Goetz 2020:32893963}" "" "c.4919G>A, p.Arg1640Gln Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94021339C>T" "" "likely pathogenic (recessive)" ""
"0000779418" "0" "90" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "14, 120056, 0, 0.0001166" "{PMID:Goetz 2020:32893963}" "" "c.634C>T, p.Arg212Cys Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94098928G>A" "" "pathogenic (recessive)" ""
"0000779419" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "5406, 121330, 156, 0.04456" "{PMID:Goetz 2020:32893963}" "" "c.5603A>T, p.(Asn1868Ile) Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000779420" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Goetz 2020:32893963}" "" "c.5882G>A, p.Gly1961Glu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000779421" "0" "90" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "227, 121250, 3, 0.001872" "{PMID:Goetz 2020:32893963}" "" "c.6320G>A, p.Arg2107His Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94001068C>T" "" "pathogenic (recessive)" ""
"0000779422" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Goetz 2020:32893963}" "" "c.5882G>A, p.Gly1961Glu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000779423" "0" "70" "1" "94471055" "94471055" "subst" "0.00035346" "01695" "ABCA4_000029" "g.94471055C>T" "47, 121404, 1, 0.0003871" "{PMID:Goetz 2020:32893963}" "" "c.6089G>A, p.Arg2030Gln Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94005499C>T" "" "likely pathogenic (recessive)" ""
"0000779424" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Goetz 2020:32893963}" "" "c.2588G>C, p.Gly863Ala Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000779425" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Goetz 2020:32893963}" "" "c.5882G>A, p.Gly1961Glu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000779426" "0" "90" "1" "94495009" "94495009" "dup" "0" "01695" "ABCA4_000087" "g.94495009dup" "" "{PMID:Goetz 2020:32893963}" "" "c.4537dupC, p.Gln1513ProfsX42 Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94029453dup" "" "pathogenic (recessive)" ""
"0000779427" "0" "50" "1" "94485278" "94485278" "subst" "0.000487317" "01695" "ABCA4_000101" "g.94485278C>T" "55, 106206, 0, 0.0005179" "{PMID:Goetz 2020:32893963}" "" "c.5056G>A, p.Val1686Met Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94019722C>T" "" "VUS" ""
"0000779428" "0" "30" "1" "94495037" "94495037" "subst" "0.000830658" "01695" "ABCA4_000908" "g.94495037C>G" "" "{PMID:Goetz 2020:32893963}" "" "c.4503G>C, p.Glu1501Asp Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94029481C>G" "" "likely benign" ""
"0000779429" "0" "10" "1" "94505604" "94505604" "subst" "0.00645586" "01695" "ABCA4_000092" "g.94505604A>C" "879, 64452, 44, 0.01364" "{PMID:Goetz 2020:32893963}" "" "c.3602T>G, p.Leu1201Arg Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94040048A>C" "" "benign" ""
"0000779430" "0" "70" "1" "94490550" "94490550" "subst" "0.000105588" "01695" "ABCA4_000523" "g.94490550C>T" "11, 121406, 0, 0.00009061" "{PMID:Goetz 2020:32893963}" "" "c.4594G>A, p.D1532N Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94024994C>T" "" "likely pathogenic (recessive)" ""
"0000779431" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "24, 119274, 0, 0.0002012" "{PMID:Goetz 2020:32893963}" "" "c.4139C>T, p.Pro1380Leu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000779432" "0" "90" "1" "94461664" "94461664" "subst" "4.06841E-6" "01695" "ABCA4_000860" "g.94461664C>T" "" "{PMID:Goetz 2020:32893963}" "" "c.6816+1G>A, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.93996108C>T" "" "pathogenic (recessive)" ""
"0000779433" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "14, 121282, 0, 0.0001154" "{PMID:Goetz 2020:32893963}" "" "c.3322C>T, p.Arg1108Cys Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000779434" "0" "90" "1" "94510248" "94510248" "subst" "0.000544123" "01695" "ABCA4_000107" "g.94510248C>G" "87, 121410, 0, 0.0007166" "{PMID:Goetz 2020:32893963}" "" "c.2971G>C, p.Gly991Arg Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94044692C>G" "" "pathogenic (recessive)" ""
"0000779435" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "42, 120772, 0, 0.0003478" "{PMID:Goetz 2020:32893963}" "" "c.5714+5G>A, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000779436" "0" "70" "1" "94496583" "94496583" "subst" "2.03092E-5" "01695" "ABCA4_000190" "g.94496583A>G" "1, 120898, 0, 0.000008271" "{PMID:Goetz 2020:32893963}" "" "c.4222T>C, p.Trp1408Arg Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94031027A>G" "" "likely pathogenic (recessive)" ""
"0000779437" "0" "70" "1" "94486896" "94486896" "subst" "3.65562E-5" "01695" "ABCA4_000085" "g.94486896G>A" "1, 121394, 0, 0.000008238" "{PMID:Goetz 2020:32893963}" "" "c.4918C>T, p.Arg1640Trp Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94021340G>A" "" "likely pathogenic (recessive)" ""
"0000779438" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Goetz 2020:32893963}" "" "c.5882G>A, p.Gly1961Glu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000779439" "0" "90" "1" "94497564" "94497564" "subst" "1.64383E-5" "01695" "ABCA4_000091" "g.94497564G>A" "4, 118564, 0, 0.00003374" "{PMID:Goetz 2020:32893963}" "" "c.3898C>T, p.Arg1300Ter Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94032008G>A" "" "pathogenic (recessive)" ""
"0000779440" "0" "90" "1" "94526296" "94526296" "subst" "1.64555E-5" "01695" "ABCA4_000768" "g.94526296G>A" "1, 96614, 0, 0.00001035" "{PMID:Goetz 2020:32893963}" "" "c.1957C>T, p.Arg653Cys Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94060740G>A" "" "pathogenic (recessive)" ""
"0000779441" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "30, 121388, 0, 0.0002471" "{PMID:Goetz 2020:32893963}" "" "c.3385G>T, p.Arg1129Leu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000779442" "0" "70" "1" "94495077" "94495077" "subst" "0" "01695" "ABCA4_000184" "g.94495077C>T" "" "{PMID:Goetz 2020:32893963}" "" "c.4463G>A, p.Cys1488Tyr Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94029521C>T" "" "likely pathogenic (recessive)" ""
"0000779443" "0" "70" "1" "94526174" "94526174" "subst" "0" "01695" "ABCA4_002057" "g.94526174A>C" "" "{PMID:Goetz 2020:32893963}" "" "c.2079T>G, p.Asn693Lys Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94060618A>C" "" "likely pathogenic (recessive)" ""
"0000779444" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Goetz 2020:32893963}" "" "c.5882G>A, p.Gly1961Glu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000779445" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Goetz 2020:32893963}" "" "c.5882G>A, p.Gly1961Glu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000779446" "0" "70" "1" "94467475" "94467475" "subst" "1.62463E-5" "01695" "ABCA4_001599" "g.94467475C>T" "" "{PMID:Goetz 2020:32893963}" "" "c.6221G>A, p.Gly2074Asp Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94001919C>T" "" "likely pathogenic (recessive)" ""
"0000779447" "0" "70" "1" "94543290" "94543290" "subst" "4.06448E-6" "01695" "ABCA4_002116" "g.94543290T>G" "" "{PMID:Goetz 2020:32893963}" "" "c.1510A>C, p.Asn504His Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94077734T>G" "" "likely pathogenic (recessive)" ""
"0000779448" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "26, 121404, 0, 0.0002142" "{PMID:Goetz 2020:32893963}" "" "c.6079C>T, p.Leu2027Phe Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic (recessive)" ""
"0000779449" "0" "70" "1" "94486896" "94486896" "subst" "3.65562E-5" "01695" "ABCA4_000085" "g.94486896G>A" "1, 121394, 0, 0.000008238" "{PMID:Goetz 2020:32893963}" "" "c.4918C>T, p.Arg1640Trp Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94021340G>A" "" "likely pathogenic (recessive)" ""
"0000779450" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Goetz 2020:32893963}" "" "c.2588G>C, p.Gly863Ala Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000779451" "0" "70" "1" "94490567" "94490567" "subst" "5.68528E-5" "01695" "ABCA4_000026" "g.94490567G>A" "4, 121406, 0, 0.00003295" "{PMID:Goetz 2020:32893963}" "" "c.4577C>T, p.Thr1526Met Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94025011G>A" "" "likely pathogenic (recessive)" ""
"0000779452" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "13, 121216, 0, 0.0001072" "{PMID:Goetz 2020:32893963}" "" "c.768C>T, p.Val256Val Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000779453" "0" "70" "1" "94496547" "94496547" "subst" "4.06345E-6" "01695" "ABCA4_000559" "g.94496547C>A" "1, 120798, 0, 0.000008278" "{PMID:Goetz 2020:32893963}" "" "c.4253+5G>T, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94030991C>A" "" "likely pathogenic (recessive)" ""
"0000779454" "0" "90" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "21, 121302, 0, 0.0001731" "{PMID:Goetz 2020:32893963}" "" "c.2894A>G, p.Asn965Ser Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94046943T>C" "" "pathogenic (recessive)" ""
"0000779455" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Goetz 2020:32893963}" "" "c.2588G>C, p.Gly863Ala Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000779456" "0" "90" "1" "94506884" "94506884" "subst" "0" "01695" "ABCA4_001903" "g.94506884G>A" "" "{PMID:Goetz 2020:32893963}" "" "c.3403C>T, p.Gln1135Stop Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94041328G>A" "" "pathogenic (recessive)" ""
"0000779457" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "6, 119038, 0, 0.0000504" "{PMID:Goetz 2020:32893963}" "" "c.1804C>T, p.Arg602Trp Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94062710G>A" "" "pathogenic (recessive)" ""
"0000779458" "0" "70" "1" "94471154" "94471154" "subst" "0.156733" "01695" "ABCA4_000881" "g.94471154C>T" "" "{PMID:Goetz 2020:32893963}" "" "c.IVS43-16G>A, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94005598C>T" "" "likely pathogenic (recessive)" ""
"0000779459" "0" "90" "1" "94528714" "94528714" "subst" "0" "01695" "ABCA4_000296" "g.94528714G>A" "" "{PMID:Goetz 2020:32893963}" "" "c.1714C>T, p.Arg572Stop Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94063158G>A" "" "pathogenic (recessive)" ""
"0000779460" "0" "70" "1" "94467475" "94467475" "subst" "3.65542E-5" "01695" "ABCA4_000171" "g.94467475C>A" "" "{PMID:Goetz 2020:32893963}" "" "c.6221G>T, p.Gly2074Val Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94001919C>A" "" "likely pathogenic (recessive)" ""
"0000779461" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "173, 121304, 0, 0.001426" "{PMID:Goetz 2020:32893963}" "" "c.3113C>T, p.Ala1038Val Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000779462" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Goetz 2020:32893963}" "" "c.5882G>A, p.Gly1961Glu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000779463" "0" "50" "1" "94512602" "94512602" "subst" "0.000369717" "01695" "ABCA4_000052" "g.94512602C>T" "59, 120896, 0, 0.000488" "{PMID:Goetz 2020:32893963}" "" "c.2791G>A, p.Val931Met Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94047046C>T" "" "VUS" ""
"0000779464" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "173, 121304, 0, 0.001426" "{PMID:Goetz 2020:32893963}" "" "c.3113C>T, p.Ala1038Val Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000779465" "0" "70" "1" "94486896" "94486896" "subst" "3.65562E-5" "01695" "ABCA4_000085" "g.94486896G>A" "1, 121394, 0, 0.000008238" "{PMID:Goetz 2020:32893963}" "" "c.4918C>T, p.Arg1640Trp Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94021340G>A" "" "likely pathogenic (recessive)" ""
"0000779466" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "42, 120772, 0, 0.0003478" "{PMID:Goetz 2020:32893963}" "" "c.5714+5G>A, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000779467" "0" "70" "1" "94496583" "94496583" "subst" "2.03092E-5" "01695" "ABCA4_000190" "g.94496583A>G" "1, 120898, 0, 0.000008271" "{PMID:Goetz 2020:32893963}" "" "c.4222T>C, p.Trp1408Arg Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94031027A>G" "" "likely pathogenic (recessive)" ""
"0000779468" "0" "70" "1" "94486896" "94486896" "subst" "3.65562E-5" "01695" "ABCA4_000085" "g.94486896G>A" "1, 121394, 0, 0.000008238" "{PMID:Goetz 2020:32893963}" "" "c.4918C>T, p.Arg1640Trp Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94021340G>A" "" "likely pathogenic (recessive)" ""
"0000779469" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Goetz 2020:32893963}" "" "c.2588G>C, p.Gly863Ala Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000779470" "0" "90" "1" "94506960" "94506960" "subst" "0" "01695" "ABCA4_000629" "g.94506960T>C" "" "{PMID:Goetz 2020:32893963}" "" "c.3329-2A>G, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94041404T>C" "" "pathogenic (recessive)" ""
"0000779471" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Goetz 2020:32893963}" "" "c.2588G>C, p.Gly863Ala Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000779472" "0" "90" "1" "94506884" "94506884" "subst" "0" "01695" "ABCA4_001903" "g.94506884G>A" "" "{PMID:Goetz 2020:32893963}" "" "c.3403C>T, p.Gln1135Stop Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94041328G>A" "" "pathogenic (recessive)" ""
"0000779473" "0" "70" "1" "94546207" "94546207" "subst" "0.000101665" "01695" "ABCA4_000083" "g.94546207G>C" "16, 121336, 0, 0.0001319" "{PMID:Goetz 2020:32893963}" "" "c.926C>G, p.Pro309Arg Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94080651G>C" "" "likely pathogenic (recessive)" ""
"0000779474" "0" "70" "1" "94467487" "94467488" "delins" "0" "01695" "ABCA4_001602" "g.94467487_94467488delinsTG" "" "{PMID:Goetz 2020:32893963}" "" "c.6208_6209delACinsCA, p.Thr2070Gln Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94001931_94001932delinsTG" "" "likely pathogenic (recessive)" ""
"0000779475" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "15, 121412, 0, 0.0001235" "{PMID:Goetz 2020:32893963}" "" "c.1622T>C, p.Leu541Pro Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000779476" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "173, 121304, 0, 0.001426" "{PMID:Goetz 2020:32893963}" "" "c.3113C>T, p.Ala1038Val Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000779477" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "14, 121282, 0, 0.0001154" "{PMID:Goetz 2020:32893963}" "" "c.3322C>T, p.Arg1108Cys Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000779478" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Goetz 2020:32893963}" "" "c.5882G>A, p.Gly1961Glu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000779479" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Goetz 2020:32893963}" "" "c.5882G>A, p.Gly1961Glu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000779480" "0" "70" "1" "94496558" "94496560" "del" "0" "01695" "ABCA4_000561" "g.94496558_94496560del" "" "{PMID:Goetz 2020:32893963}" "" "c.4249_4251delTTC, p.Phe1417del Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94031002_94031004del" "" "likely pathogenic (recessive)" ""
"0000779481" "0" "70" "1" "94543269" "94543269" "subst" "0.000179087" "01695" "ABCA4_000307" "g.94543269G>A" "26, 120500, 0, 0.0002158" "{PMID:Goetz 2020:32893963}" "" "c.1531C>T, p.Arg511Cys Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94077713G>A" "" "likely pathogenic (recessive)" ""
"0000779482" "0" "70" "1" "94474389" "94474389" "subst" "0" "01695" "ABCA4_001660" "g.94474389T>C" "" "{PMID:Goetz 2020:32893963}" "" "c.5753A>G, p.Asp1918Gly Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94008833T>C" "" "likely pathogenic (recessive)" ""
"0000779483" "0" "50" "1" "94476377" "94476377" "subst" "0.00160473" "01695" "ABCA4_000411" "g.94476377C>T" "216, 121058, 1, 0.001784" "{PMID:Goetz 2020:32893963}" "" "c.5693G>A, p.Arg1898His Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94010821C>T" "" "VUS" ""
"0000779484" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "173, 121304, 0, 0.001426" "{PMID:Goetz 2020:32893963}" "" "c.3113C>T, p.Ala1038Val Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000779485" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "15, 121412, 0, 0.0001235" "{PMID:Goetz 2020:32893963}" "" "c.1622T>C, p.Leu541Pro Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000779486" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "173, 121304, 0, 0.001426" "{PMID:Goetz 2020:32893963}" "" "c.3113C>T, p.Ala1038Val Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000779487" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Goetz 2020:32893963}" "" "c.2588G>C, p.Gly863Ala Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000779488" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Goetz 2020:32893963}" "" "c.2588G>C, p.Gly863Ala Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000779489" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Goetz 2020:32893963}" "" "c.5461-10T>C, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000779490" "0" "70" "1" "94528143" "94528143" "subst" "0.00124448" "01695" "ABCA4_000076" "g.94528143C>T" "196, 121108, 1, 0.001618" "{PMID:Goetz 2020:32893963}" "" "c.1927G>A, p.Val643Met Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94062587C>T" "" "likely pathogenic (recessive)" ""
"0000779491" "0" "70" "1" "94512611" "94512611" "subst" "0" "01695" "ABCA4_000697" "g.94512611C>A" "" "{PMID:Goetz 2020:32893963}" "" "c.2782G>T, p.Gly928Trp Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94047055C>A" "" "likely pathogenic (recessive)" ""
"0000779492" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "15, 121412, 0, 0.0001235" "{PMID:Goetz 2020:32893963}" "" "c.1622T>C, p.Leu541Pro Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000779493" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "173, 121304, 0, 0.001426" "{PMID:Goetz 2020:32893963}" "" "c.3113C>T, p.Ala1038Val Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000779494" "0" "50" "1" "94485257" "94485257" "subst" "0.00017945" "01695" "ABCA4_000100" "g.94485257C>T" "26, 109132, 0, 0.0002382" "{PMID:Goetz 2020:32893963}" "" "c.5077G>A, p.Val1693Ile Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94019701C>T" "" "VUS" ""
"0000779495" "0" "90" "1" "94488971" "94488971" "del" "0" "01695" "ABCA4_001776" "g.94488971del" "" "{PMID:Goetz 2020:32893963}" "" "c.4640delA, p.Lys1547ArgfsX34 Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94023415del" "" "pathogenic (recessive)" ""
"0000779496" "0" "90" "1" "94497418" "94497418" "dup" "0" "01695" "ABCA4_001855" "g.94497418dup" "" "{PMID:Goetz 2020:32893963}" "" "c.4044dupA, p.Gln1349ThrfsX73 Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94031862dup" "" "pathogenic (recessive)" ""
"0000779497" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "24, 119274, 0, 0.0002012" "{PMID:Goetz 2020:32893963}" "" "c.4139C>T, p.Pro1380Leu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000779498" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Goetz 2020:32893963}" "" "c.5882G>A, p.Gly1961Glu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000779499" "0" "90" "1" "94485162" "94485162" "subst" "0" "01695" "ABCA4_001419" "g.94485162C>T" "" "{PMID:Goetz 2020:32893963}" "" "c.5172G>A, p.Trp1724Stop Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94019606C>T" "" "pathogenic (recessive)" ""
"0000779500" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Goetz 2020:32893963}" "" "c.5461-10T>C, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000779501" "0" "70" "1" "94510164" "94510164" "subst" "1.62441E-5" "01695" "ABCA4_000144" "g.94510164C>T" "2, 121386, 0, 0.00001648" "{PMID:Goetz 2020:32893963}" "" "c.3050+5G>A, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94044608C>T" "" "likely pathogenic (recessive)" ""
"0000779502" "0" "90" "1" "94481294" "94481294" "subst" "0" "01695" "ABCA4_000110" "g.94481294C>T" "" "{PMID:Goetz 2020:32893963}" "" "c.5312+1G>A, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94015738C>T" "" "pathogenic (recessive)" ""
"0000779503" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "14, 121282, 0, 0.0001154" "{PMID:Goetz 2020:32893963}" "" "c.3322C>T, p.Arg1108Cys Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000779504" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "15, 121412, 0, 0.0001235" "{PMID:Goetz 2020:32893963}" "" "c.1622T>C, p.Leu541Pro Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000779505" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Goetz 2020:32893963}" "" "c.5461-10T>C, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000779506" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Goetz 2020:32893963}" "" "c.2588G>C, p.Gly863Ala Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000779507" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "173, 121304, 0, 0.001426" "{PMID:Goetz 2020:32893963}" "" "c.3113C>T, p.Ala1038Val Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000779508" "0" "70" "1" "94486896" "94486896" "subst" "3.65562E-5" "01695" "ABCA4_000085" "g.94486896G>A" "1, 121394, 0, 0.000008238" "{PMID:Goetz 2020:32893963}" "" "c.4918C>T, p.Arg1640Trp Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94021340G>A" "" "likely pathogenic (recessive)" ""
"0000779509" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "15, 121412, 0, 0.0001235" "{PMID:Goetz 2020:32893963}" "" "c.1622T>C, p.Leu541Pro Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000779510" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "42, 120772, 0, 0.0003478" "{PMID:Goetz 2020:32893963}" "" "c.5714+5G>A, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000779511" "0" "70" "1" "94544880" "94544880" "subst" "4.06101E-6" "01695" "ABCA4_001510" "g.94544880T>A" "" "{PMID:Goetz 2020:32893963}" "" "c.1237A>T, p.Asn413Tyr Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94079324T>A" "" "likely pathogenic (recessive)" ""
"0000779512" "0" "30" "1" "94496602" "94496602" "subst" "0.0234538" "01695" "ABCA4_000913" "g.94496602G>T" "2957, 120728, 46, 0.02449" "{PMID:Goetz 2020:32893963}" "" "c.4203C>A, p.Pro1401Pro Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94031046G>T" "" "likely benign" ""
"0000779513" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "5406, 121330, 156, 0.04456" "{PMID:Goetz 2020:32893963}" "" "c.5603A>T, p.Asp.Asn1868Ile Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000779514" "0" "70" "1" "94509047" "94509047" "subst" "0" "01695" "ABCA4_001959" "g.94509047A>T" "" "{PMID:Goetz 2020:32893963}" "" "c.3051-16T>A, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94043491A>T" "" "likely pathogenic (recessive)" ""
"0000779515" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Goetz 2020:32893963}" "" "c.2588G>C, p.Gly863Ala Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000779516" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Goetz 2020:32893963}" "" "c.5461-10T>C, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000779517" "0" "90" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "227, 121250, 3, 0.001872" "{PMID:Goetz 2020:32893963}" "" "c.6320G>A, p.Arg2107His Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94001068C>T" "" "pathogenic (recessive)" ""
"0000779518" "0" "70" "1" "94480112" "94480112" "subst" "0" "01695" "ABCA4_001494" "g.94480112A>G" "" "{PMID:Goetz 2020:32893963}" "" "c.5447T>C, p.Phe1816Ser Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94014556A>G" "" "likely pathogenic (recessive)" ""
"0000779519" "0" "90" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "227, 121250, 3, 0.001872" "{PMID:Goetz 2020:32893963}" "" "c.6320G>A, p.Arg2107His Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94001068C>T" "" "pathogenic (recessive)" ""
"0000779520" "0" "70" "1" "94490550" "94490550" "subst" "0.000105588" "01695" "ABCA4_000523" "g.94490550C>T" "11, 121406, 0, 0.00009061" "{PMID:Goetz 2020:32893963}" "" "c.4594G>A, p.Asp1532Asn Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94024994C>T" "" "likely pathogenic (recessive)" ""
"0000779521" "0" "50" "1" "94568686" "94568686" "subst" "0.00258122" "01695" "ABCA4_000212" "g.94568686C>T" "290, 120866, 1, 0.002399" "{PMID:Goetz 2020:32893963}" "" "c.455G>A, p.Arg152Gln Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94103130C>T" "" "VUS" ""
"0000779522" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "5406, 121330, 156, 0.04456" "{PMID:Goetz 2020:32893963}" "" "c.5603A>T, p.Asp.Asn1868Ile Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000779523" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "14, 121282, 0, 0.0001154" "{PMID:Goetz 2020:32893963}" "" "c.3322C>T, p.Arg1108Cys Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000779524" "0" "90" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "227, 121250, 3, 0.001872" "{PMID:Goetz 2020:32893963}" "" "c.6320G>A, p.Arg2107His Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94001068C>T" "" "pathogenic (recessive)" ""
"0000779525" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Goetz 2020:32893963}" "" "c.5882G>A, p.Gly1961Glu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000779526" "0" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "12, 60116, 0, 0.0001996" "{PMID:Goetz 2020:32893963}" "" "c.4469G>A, p.Cys1490Tyr Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94029515C>T" "" "likely pathogenic (recessive)" ""
"0000779527" "0" "90" "1" "94574275" "94574275" "subst" "0" "01695" "ABCA4_001025" "g.94574275G>C" "" "{PMID:Goetz 2020:32893963}" "" "c.303-3C>G, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94108719G>C" "" "pathogenic (recessive)" ""
"0000779528" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "5406, 121330, 156, 0.04456" "{PMID:Goetz 2020:32893963}" "" "c.5603A>T, p.(Asn1868Ile) Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000779529" "0" "90" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "14, 120056, 0, 0.0001166" "{PMID:Goetz 2020:32893963}" "" "c.634C>T, p.Arg212Cys Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94098928G>A" "" "pathogenic (recessive)" ""
"0000779530" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Goetz 2020:32893963}" "" "c.5461-10T>C, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000779531" "0" "70" "1" "94506923" "94506923" "subst" "2.43657E-5" "01695" "ABCA4_000012" "g.94506923C>T" "3, 121394, 0, 0.00002471" "{PMID:Goetz 2020:32893963}" "" "c.3364G>A, p.Glu1122Lys Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94041367C>T" "" "likely pathogenic (recessive)" ""
"0000779532" "0" "70" "1" "94495002" "94495002" "subst" "0" "01695" "ABCA4_000533" "g.94495002T>C" "" "{PMID:Goetz 2020:32893963}" "" "c.4538A>G, p.Gln1513Arg Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94029446T>C" "" "likely pathogenic (recessive)" ""
"0000779533" "0" "90" "1" "94568577" "94568577" "del" "0" "01695" "ABCA4_000201" "g.94568577del" "" "{PMID:Goetz 2020:32893963}" "" "c.564delA, p.Glu189SerfsX12 Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94103021del" "" "pathogenic (recessive)" ""
"0000779534" "0" "70" "1" "94481296" "94481296" "subst" "4.07329E-6" "01695" "ABCA4_001532" "g.94481296C>T" "" "{PMID:Goetz 2020:32893963}" "" "c.5311G>A, p.Gly1771Arg Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94015740C>T" "" "likely pathogenic (recessive)" ""
"0000779535" "0" "70" "1" "94528818" "94528818" "subst" "0.00205975" "01695" "ABCA4_001239" "g.94528818C>T" "239, 121412, 0, 0.001969" "{PMID:Goetz 2020:32893963}" "" "c.1610G>A, p.Arg537His Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94063262C>T" "" "likely pathogenic (recessive)" ""
"0000779536" "0" "90" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "227, 121250, 3, 0.001872" "{PMID:Goetz 2020:32893963}" "" "c.6320G>A, p.Arg2107His Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94001068C>T" "" "pathogenic (recessive)" ""
"0000779537" "0" "70" "1" "94577002" "94577002" "subst" "7.32398E-5" "01695" "ABCA4_000987" "g.94577002G>C" "" "{PMID:Goetz 2020:32893963}" "" "c.294C>G, p.Asn98Lys Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94111446G>C" "" "likely pathogenic (recessive)" ""
"0000779538" "0" "70" "1" "94528819" "94528819" "subst" "2.03128E-5" "01695" "ABCA4_000078" "g.94528819G>A" "2, 121412, 0, 0.00001647" "{PMID:Goetz 2020:32893963}" "" "c.1609C>T, p.Arg537Cys Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94063263G>A" "" "likely pathogenic (recessive)" ""
"0000779539" "0" "70" "1" "94486896" "94486896" "subst" "3.65562E-5" "01695" "ABCA4_000085" "g.94486896G>A" "1, 121394, 0, 0.000008238" "{PMID:Goetz 2020:32893963}" "" "c.4918C>T, p.Arg1640Trp Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94021340G>A" "" "likely pathogenic (recessive)" ""
"0000779540" "0" "70" "1" "94476413" "94476413" "subst" "0" "01695" "ABCA4_000415" "g.94476413C>T" "" "{PMID:Goetz 2020:32893963}" "" "c.5657G>A, p.Gly1886Glu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94010857C>T" "" "likely pathogenic (recessive)" ""
"0000779541" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "173, 121304, 0, 0.001426" "{PMID:Goetz 2020:32893963}" "" "c.3113C>T, p.Ala1038Val Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000779542" "0" "50" "1" "94522202" "94522202" "subst" "0" "01695" "ABCA4_002040" "g.94522202G>A" "" "{PMID:Goetz 2020:32893963}" "" "c.2337C>T, p.Cys779Cys Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94056646G>A" "" "VUS" ""
"0000779543" "0" "70" "1" "94577135" "94577135" "subst" "2.43718E-5" "01695" "ABCA4_000240" "g.94577135C>T" "2, 121210, 0, 0.0000165" "{PMID:Goetz 2020:32893963}" "" "c.161G>A, p.Cys54Tyr Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94111579C>T" "" "likely pathogenic (recessive)" ""
"0000779544" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Goetz 2020:32893963}" "" "c.5882G>A, p.Gly1961Glu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000779545" "0" "70" "1" "94480241" "94480241" "subst" "7.71705E-5" "01695" "ABCA4_000446" "g.94480241G>A" "14, 121408, 0, 0.0001153" "{PMID:Goetz 2020:32893963}" "" "c.5318C>T, p.Ala1773Val Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94014685G>A" "" "likely pathogenic (recessive)" ""
"0000779546" "0" "50" "1" "94564441" "94564441" "subst" "0.000203171" "01695" "ABCA4_001513" "g.94564441C>A" "" "{PMID:Goetz 2020:32893963}" "" "c.677G>T, p.Arg226Leu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94098885C>A" "" "VUS" ""
"0000779547" "0" "70" "1" "94505659" "94505659" "subst" "0.000942724" "01695" "ABCA4_000921" "g.94505659C>A" "101, 83320, 0, 0.001212" "{PMID:Goetz 2020:32893963}" "" "c.3547G>T, p.Gly1183Cys Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94040103C>A" "" "likely pathogenic (recessive)" ""
"0000779548" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Goetz 2020:32893963}" "" "c.5882G>A, p.Gly1961Glu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000779549" "0" "50" "1" "94502756" "94502756" "subst" "0.000422575" "01695" "ABCA4_000032" "g.94502756G>A" "37, 121234, 1, 0.0003052" "{PMID:Goetz 2020:32893963}" "" "c.3758C>T, p.Thr1253Met Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94037200G>A" "" "VUS" ""
"0000779550" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "14, 121282, 0, 0.0001154" "{PMID:Goetz 2020:32893963}" "" "c.3322C>T, p.Arg1108Cys Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000779551" "0" "70" "1" "94476830" "94476830" "subst" "8.12671E-6" "01695" "ABCA4_001680" "g.94476830A>T" "" "{PMID:Goetz 2020:32893963}" "" "c.5572T>A, p.Tyr1858Asn Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94011274A>T" "" "likely pathogenic (recessive)" ""
"0000779552" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "173, 121304, 0, 0.001426" "{PMID:Goetz 2020:32893963}" "" "c.3113C>T, p.Ala1038Val Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000779553" "0" "70" "1" "94520855" "94520855" "subst" "0" "01695" "ABCA4_002031" "g.94520855A>G" "" "{PMID:Goetz 2020:32893963}" "" "c.2399T>C, p.Val800Cys Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94055299A>G" "" "likely pathogenic (recessive)" ""
"0000779554" "0" "90" "1" "94510253" "94510253" "subst" "0.000247694" "01695" "ABCA4_000108" "g.94510253A>G" "36, 121412, 0, 0.0002965" "{PMID:Goetz 2020:32893963}" "" "c.2966T>C, p.Val989la Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94044697A>G" "" "pathogenic (recessive)" ""
"0000779555" "0" "90" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "227, 121250, 3, 0.001872" "{PMID:Goetz 2020:32893963}" "" "c.6320G>A, p.Arg2107His Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94001068C>T" "" "pathogenic (recessive)" ""
"0000779556" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "24, 119274, 0, 0.0002012" "{PMID:Goetz 2020:32893963}" "" "c.4139C>T, p.Pro1380Leu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000779557" "0" "90" "1" "94508386" "94508386" "subst" "1.62443E-5" "01695" "ABCA4_000642" "g.94508386C>T" "4, 121376, 0, 0.00003296" "{PMID:Goetz 2020:32893963}" "" "c.3259G>A, p.Glu1087Lys Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94042830C>T" "" "pathogenic (recessive)" ""
"0000779558" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Goetz 2020:32893963}" "" "GGA>GAA, p.Gly1961Glu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000779559" "3" "70" "1" "94495008" "94495008" "subst" "0" "01695" "ABCA4_001802" "g.94495008G>T" "" "{PMID:Goetz 2020:32893963}" "" "c.4532C>A, p.Pro1511His Homozygous" "" "Unknown" "" "" "0" "" "" "g.94029452G>T" "" "likely pathogenic (recessive)" ""
"0000779560" "0" "90" "1" "94496605" "94496605" "subst" "0" "01695" "ABCA4_000570" "g.94496605G>T" "" "{PMID:Goetz 2020:32893963}" "" "c.4200C>A, p.Tyr1400Stop Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94031049G>T" "" "pathogenic (recessive)" ""
"0000779561" "0" "70" "1" "94517195" "94517195" "subst" "4.06207E-6" "01695" "ABCA4_001999" "g.94517195C>T" "" "{PMID:Goetz 2020:32893963}" "" "c.2647G>A, p.Gly883Ser Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94051639C>T" "" "likely pathogenic (recessive)" ""
"0000779562" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Goetz 2020:32893963}" "" "c.5882G>A, p.Gly1961Glu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000779563" "0" "70" "1" "94481393" "94481393" "subst" "0" "01695" "ABCA4_001715" "g.94481393A>C" "" "{PMID:Goetz 2020:32893963}" "" "c.5214T>G, p.Ser1738Arg Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94015837A>C" "" "likely pathogenic (recessive)" ""
"0000779564" "0" "70" "1" "94495083" "94495083" "subst" "0.000124542" "01695" "ABCA4_000542" "g.94495083G>A" "11, 77176, 0, 0.0001425" "{PMID:Goetz 2020:32893963}" "" "c.4457C>T, p.Pro1486Leu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94029527G>A" "" "likely pathogenic (recessive)" ""
"0000779565" "0" "70" "1" "94528143" "94528143" "subst" "0.00124448" "01695" "ABCA4_000076" "g.94528143C>T" "196, 121108, 1, 0.001618" "{PMID:Goetz 2020:32893963}" "" "c.1927G>A, p.Val643Met Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94062587C>T" "" "likely pathogenic (recessive)" ""
"0000779566" "0" "70" "1" "94485196" "94485197" "delins" "0" "01695" "ABCA4_001727" "g.94485196_94485197delinsCT" "" "{PMID:Goetz 2020:32893963}" "" "c.5137_5138delCAinsAG, p.Gln1713Arg Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94019640_94019641delinsCT" "" "likely pathogenic (recessive)" ""
"0000779567" "0" "90" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "227, 121250, 3, 0.001872" "{PMID:Goetz 2020:32893963}" "" "c.6320G>A, p.Arg2107His Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94001068C>T" "" "pathogenic (recessive)" ""
"0000779568" "0" "50" "1" "94474381" "94474381" "subst" "1.21849E-5" "01695" "ABCA4_000410" "g.94474381C>T" "2, 121412, 0, 0.00001647" "{PMID:Goetz 2020:32893963}" "" "c.5761G>A, p.Val1921Met Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94008825C>T" "" "VUS" ""
"0000779569" "0" "70" "1" "94463648" "94463648" "subst" "0.000162447" "01695" "ABCA4_001373" "g.94463648G>C" "12, 121234, 1, 0.00009898" "{PMID:Goetz 2020:32893963}" "" "c.6498C>G, p.Ile2166Met Heterozygous" "" "Unknown" "" "" "0" "" "" "g.93998092G>C" "" "likely pathogenic (recessive)" ""
"0000779570" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Goetz 2020:32893963}" "" "c.5461-10T>C, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000779571" "3" "70" "1" "94471154" "94471154" "subst" "0.156733" "01695" "ABCA4_000881" "g.94471154C>T" "" "{PMID:Goetz 2020:32893963}" "" "c.IVS43-16G>A, Homozygous" "" "Unknown" "" "" "0" "" "" "g.94005598C>T" "" "likely pathogenic (recessive)" ""
"0000779572" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "173, 121304, 0, 0.001426" "{PMID:Goetz 2020:32893963}" "" "c.3113C>T, p.Ala1038Val Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000779573" "0" "50" "1" "94476377" "94476377" "subst" "0.00160473" "01695" "ABCA4_000411" "g.94476377C>T" "216, 121058, 1, 0.001784" "{PMID:Goetz 2020:32893963}" "" "c.5693G>A, p.Arg1898His Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94010821C>T" "" "VUS" ""
"0000779574" "0" "50" "1" "94564460" "94564460" "subst" "8.1355E-6" "01695" "ABCA4_000056" "g.94564460G>A" "" "{PMID:Goetz 2020:32893963}" "" "c.658C>T, p.Arg220Cys Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94098904G>A" "" "VUS" ""
"0000779575" "0" "70" "1" "94577135" "94577135" "subst" "2.43718E-5" "01695" "ABCA4_000240" "g.94577135C>T" "2, 121210, 0, 0.0000165" "{PMID:Goetz 2020:32893963}" "" "c.161G>A, p.Cys54Tyr Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94111579C>T" "" "likely pathogenic (recessive)" ""
"0000779576" "0" "90" "1" "94564442" "94564454" "del" "0" "01695" "ABCA4_000377" "g.94564442_94564454del" "" "{PMID:Goetz 2020:32893963}" "" "c.666delAAAGACGGTGCGC, p.Ala222fs Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94098886_94098898del" "" "pathogenic (recessive)" ""
"0000779577" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "5406, 121330, 156, 0.04456" "{PMID:Goetz 2020:32893963}" "" "c.5603A>T, p.Asp.Asn1868Ile Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000779578" "0" "10" "1" "94505604" "94505604" "subst" "0.00645586" "01695" "ABCA4_000092" "g.94505604A>C" "879, 64452, 44, 0.01364" "{PMID:Goetz 2020:32893963}" "" "c.3602T>G, p.Leu1201Arg Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94040048A>C" "" "benign" ""
"0000779579" "0" "30" "1" "94496602" "94496602" "subst" "0.0234538" "01695" "ABCA4_000913" "g.94496602G>T" "2957, 120728, 46, 0.02449" "{PMID:Goetz 2020:32893963}" "" "c.4203C>A, p.Pro1401Pro Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94031046G>T" "" "likely benign" ""
"0000779580" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "26, 121404, 0, 0.0002142" "{PMID:Goetz 2020:32893963}" "" "c.6079C>T, p.Leu2027Phe Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic (recessive)" ""
"0000779581" "0" "90" "1" "94546047" "94546047" "subst" "0" "01695" "ABCA4_000150" "g.94546047A>T" "" "{PMID:Goetz 2020:32893963}" "" "c.1086T>A, p.Tyr362Stop Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94080491A>T" "" "pathogenic (recessive)" ""
"0000779582" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Goetz 2020:32893963}" "" "c.5882G>A, p.Gly1961Glu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000779583" "0" "70" "1" "94577135" "94577135" "subst" "2.43718E-5" "01695" "ABCA4_000240" "g.94577135C>T" "2, 121210, 0, 0.0000165" "{PMID:Goetz 2020:32893963}" "" "c.161G>A, p.Cys54Tyr Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94111579C>T" "" "likely pathogenic (recessive)" ""
"0000779584" "0" "70" "1" "94461735" "94461735" "subst" "0" "01695" "ABCA4_001414" "g.94461735G>T" "" "{PMID:Goetz 2020:32893963}" "" "c.6746C>A, p.Ala2249sp Heterozygous" "" "Unknown" "" "" "0" "" "" "g.93996179G>T" "" "likely pathogenic (recessive)" ""
"0000779585" "0" "70" "1" "94522245" "94522245" "subst" "0" "01695" "ABCA4_002044" "g.94522245C>G" "" "{PMID:Goetz 2020:32893963}" "" "c.2294G>C, p.Ser765Thr Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94056689C>G" "" "likely pathogenic (recessive)" ""
"0000779586" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Goetz 2020:32893963}" "" "c.5882G>A, p.Gly1961Glu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000779587" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Goetz 2020:32893963}" "" "c.5461-10T>C, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000779588" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "14, 121282, 0, 0.0001154" "{PMID:Goetz 2020:32893963}" "" "c.3322C>T, p.Arg1108Cys Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000779589" "0" "70" "1" "94485279" "94485293" "del" "0" "01695" "ABCA4_000476" "g.94485279_94485293del" "" "{PMID:Goetz 2020:32893963}" "" "c.5044_5058del15, p.Val1682_Val1686del Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94019723_94019737del" "" "likely pathogenic (recessive)" ""
"0000779590" "0" "90" "1" "94506960" "94506960" "subst" "0" "01695" "ABCA4_000629" "g.94506960T>C" "" "{PMID:Goetz 2020:32893963}" "" "c.3329-2A>G, Splicing Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94041404T>C" "" "pathogenic (recessive)" ""
"0000779591" "0" "70" "1" "94485279" "94485293" "del" "0" "01695" "ABCA4_000476" "g.94485279_94485293del" "" "{PMID:Goetz 2020:32893963}" "" "c.5044_5058del15, p.Val1682_Val1686del Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94019723_94019737del" "" "likely pathogenic (recessive)" ""
"0000779592" "0" "90" "1" "94506960" "94506960" "subst" "0" "01695" "ABCA4_000629" "g.94506960T>C" "" "{PMID:Goetz 2020:32893963}" "" "c.3329-2A>G, Splicing Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94041404T>C" "" "pathogenic (recessive)" ""
"0000779593" "0" "70" "1" "94502765" "94502765" "subst" "0" "01695" "ABCA4_000600" "g.94502765A>G" "" "{PMID:Goetz 2020:32893963}" "" "c.3749T>C, p.Leu1250Pro Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94037209A>G" "" "likely pathogenic (recessive)" ""
"0000779594" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "26, 121404, 0, 0.0002142" "{PMID:Goetz 2020:32893963}" "" "c.6079C>T, p.Leu2027Phe Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic (recessive)" ""
"0000779595" "0" "90" "1" "94520872" "94520872" "subst" "0" "01695" "ABCA4_001468" "g.94520872C>T" "" "{PMID:Goetz 2020:32893963}" "" "c.IVS15-1G>A, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94055316C>T" "" "pathogenic (recessive)" ""
"0000779596" "0" "90" "1" "94495039" "94495039" "subst" "0" "01695" "ABCA4_001807" "g.94495039C>A" "" "{PMID:Goetz 2020:32893963}" "" "c.4501G>T, p.Glu1501Stop Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94029483C>A" "" "pathogenic (recessive)" ""
"0000779597" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "5406, 121330, 156, 0.04456" "{PMID:Goetz 2020:32893963}" "" "c.5603A>T, p.Asp.Asn1868Ile Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000779598" "0" "30" "1" "94496602" "94496602" "subst" "0.0234538" "01695" "ABCA4_000913" "g.94496602G>T" "2957, 120728, 46, 0.02449" "{PMID:Goetz 2020:32893963}" "" "c.4203C>A, p.Pro1401Pro Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94031046G>T" "" "likely benign" ""
"0000779599" "0" "70" "1" "94512566" "94512566" "subst" "7.31149E-5" "01695" "ABCA4_000693" "g.94512566G>A" "6, 121172, 0, 0.00004952" "{PMID:Goetz 2020:32893963}" "" "c.2827C>T, p.Arg943Trp Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94047010G>A" "" "likely pathogenic (recessive)" ""
"0000779600" "0" "10" "1" "94497563" "94497563" "subst" "0.00492504" "01695" "ABCA4_000090" "g.94497563C>T" "757, 118654, 27, 0.00638" "{PMID:Goetz 2020:32893963}" "" "c.3899G>A, p.Arg1300Gln Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94032007C>T" "" "benign" ""
"0000779601" "0" "10" "1" "94505604" "94505604" "subst" "0.00645586" "01695" "ABCA4_000092" "g.94505604A>C" "879, 64452, 44, 0.01364" "{PMID:Goetz 2020:32893963}" "" "c.3602T>G, p.Leu1201Arg Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94040048A>C" "" "benign" ""
"0000779602" "0" "90" "1" "94508353" "94508353" "subst" "2.8431E-5" "01695" "ABCA4_000141" "g.94508353G>A" "4, 121358, 0, 0.00003296" "{PMID:Goetz 2020:32893963}" "" "c.3292C>T, p.Arg1098Cys Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94042797G>A" "" "pathogenic (recessive)" ""
"0000779603" "0" "90" "1" "94510248" "94510248" "subst" "0.000544123" "01695" "ABCA4_000107" "g.94510248C>G" "87, 121410, 0, 0.0007166" "{PMID:Goetz 2020:32893963}" "" "c.2971G>C, p.Gly991Arg Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94044692C>G" "" "pathogenic (recessive)" ""
"0000779604" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "42, 120772, 0, 0.0003478" "{PMID:Goetz 2020:32893963}" "" "c.5714+5G>A, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000779605" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Goetz 2020:32893963}" "" "c.5882G>A, p.Gly1961Glu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000779606" "0" "70" "1" "94512478" "94512478" "subst" "3.65871E-5" "01695" "ABCA4_000678" "g.94512478G>T" "7, 121308, 0, 0.0000577" "{PMID:Goetz 2020:32893963}" "" "c.2915C>A, p.Thr972Asn Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94046922G>T" "" "likely pathogenic (recessive)" ""
"0000779607" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "173, 121304, 0, 0.001426" "{PMID:Goetz 2020:32893963}" "" "c.3113C>T, p.Ala1038Val Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000779608" "0" "50" "1" "94486888" "94486888" "subst" "3.65548E-5" "01695" "ABCA4_000137" "g.94486888G>C" "4, 121404, 0, 0.00003295" "{PMID:Goetz 2020:32893963}" "" "c.4926C>G, p.Ser1642Arg Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94021332G>C" "" "VUS" ""
"0000779609" "0" "70" "1" "94485279" "94485293" "del" "0" "01695" "ABCA4_000476" "g.94485279_94485293del" "" "{PMID:Goetz 2020:32893963}" "" "c.5044_5058del15, p.Val1682_Val1686del Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94019723_94019737del" "" "likely pathogenic (recessive)" ""
"0000779610" "0" "70" "1" "94485279" "94485293" "del" "0" "01695" "ABCA4_000476" "g.94485279_94485293del" "" "{PMID:Goetz 2020:32893963}" "" "c.5044_5058del, p.Val1682_Val1686del Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94019723_94019737del" "" "likely pathogenic (recessive)" ""
"0000779611" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Goetz 2020:32893963}" "" "c.2588G>C, p.Gly863Ala Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000779612" "0" "50" "1" "94485257" "94485257" "subst" "0.00017945" "01695" "ABCA4_000100" "g.94485257C>T" "26, 109132, 0, 0.0002382" "{PMID:Goetz 2020:32893963}" "" "c.5077G>A, p.Val1693Ile Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94019701C>T" "" "VUS" ""
"0000779613" "0" "70" "1" "94495177" "94495177" "subst" "1.22342E-5" "01695" "ABCA4_000023" "g.94495177A>G" "2, 109474, 0, 0.00001827" "{PMID:Goetz 2020:32893963}" "" "c.4363T>C, p.Cys1455Arg Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94029621A>G" "" "likely pathogenic (recessive)" ""
"0000779614" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "15, 121412, 0, 0.0001235" "{PMID:Goetz 2020:32893963}" "" "c.1622T>C, p.Leu541Pro Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000779615" "0" "10" "1" "94497563" "94497563" "subst" "0.00492504" "01695" "ABCA4_000090" "g.94497563C>T" "757, 118654, 27, 0.00638" "{PMID:Goetz 2020:32893963}" "" "c.3899G>A, p.(Arg1300Gln) Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94032007C>T" "" "benign" ""
"0000779616" "0" "30" "1" "94564500" "94564500" "subst" "0.000643469" "01695" "ABCA4_002189" "g.94564500G>A" "" "{PMID:Goetz 2020:32893963}" "" "c.618C>T, p.(Ser206=) Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94098944G>A" "" "likely benign" ""
"0000779617" "0" "30" "1" "94461754" "94461754" "subst" "0.0642229" "01695" "ABCA4_000951" "g.94461754A>G" "" "{PMID:Goetz 2020:32893963}" "" "c.6730-3T>C, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.93996198A>G" "" "likely benign" ""
"0000779618" "0" "70" "1" "94495078" "94495078" "subst" "8.37044E-6" "01695" "ABCA4_000042" "g.94495078A>G" "1, 70400, 0, 0.0000142" "{PMID:Goetz 2020:32893963}" "" "c.4462T>C, p.Cys1488Arg Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94029522A>G" "" "likely pathogenic (recessive)" ""
"0000779619" "0" "30" "1" "94517266" "94517266" "subst" "0.00217349" "01695" "ABCA4_001057" "g.94517266G>C" "" "{PMID:Goetz 2020:32893963}" "" "c.IVS16-12C>G, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94051710G>C" "" "likely benign" ""
"0000779620" "0" "50" "1" "94568686" "94568686" "subst" "0.00258122" "01695" "ABCA4_000212" "g.94568686C>T" "290, 120866, 1, 0.002399" "{PMID:Goetz 2020:32893963}" "" "c.455G>A, p.(Arg152Gln) Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94103130C>T" "" "VUS" ""
"0000779621" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "26, 121404, 0, 0.0002142" "{PMID:Goetz 2020:32893963}" "" "c.6079C>T, p.Leu2027Phe Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic (recessive)" ""
"0000779622" "0" "90" "1" "94466625" "94466625" "subst" "1.62559E-5" "01695" "ABCA4_000839" "g.94466625G>A" "2, 121244, 0, 0.0000165" "{PMID:Goetz 2020:32893963}" "" "c.6319C>T, p.Arg2107Cys Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94001069G>A" "" "pathogenic (recessive)" ""
"0000779623" "0" "70" "1" "94471022" "94471022" "subst" "0" "01695" "ABCA4_000790" "g.94471022C>T" "" "{PMID:Goetz 2020:32893963}" "" "c.6122G>A, p.Gly2041Asp Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94005466C>T" "" "likely pathogenic (recessive)" ""
"0000779624" "0" "70" "1" "94577135" "94577135" "subst" "2.43718E-5" "01695" "ABCA4_000240" "g.94577135C>T" "2, 121210, 0, 0.0000165" "{PMID:Goetz 2020:32893963}" "" "c.161G>A, p.Cys54Tyr Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94111579C>T" "" "likely pathogenic (recessive)" ""
"0000779625" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "5406, 121330, 156, 0.04456" "{PMID:Goetz 2020:32893963}" "" "c.5603A>T, p.Asp.Asn1868Ile Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000779626" "0" "70" "1" "94546118" "94546118" "subst" "8.13326E-6" "01695" "ABCA4_000082" "g.94546118A>C" "" "{PMID:Goetz 2020:32893963}" "" "c.1015T>G, p.Trp339Gly Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94080562A>C" "" "likely pathogenic (recessive)" ""
"0000779627" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Goetz 2020:32893963}" "" "c.5882G>A, p.Gly1961Glu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000779628" "0" "70" "1" "94505599" "94505599" "subst" "0" "01695" "ABCA4_000152" "g.94505599C>T" "" "{PMID:Goetz 2020:32893963}" "" "c.3607G>A, p.Gly1203Arg Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94040043C>T" "" "likely pathogenic (recessive)" ""
"0000779629" "0" "70" "1" "94490567" "94490567" "subst" "5.68528E-5" "01695" "ABCA4_000026" "g.94490567G>A" "4, 121406, 0, 0.00003295" "{PMID:Goetz 2020:32893963}" "" "c.4577C>T, p.Thr1526Met Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94025011G>A" "" "likely pathogenic (recessive)" ""
"0000779630" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "5406, 121330, 156, 0.04456" "{PMID:Goetz 2020:32893963}" "" "c.5603A>T, p.Asp.Asn1868Ile Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000779631" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Goetz 2020:32893963}" "" "c.5461-10T>CC, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000779632" "0" "30" "1" "94496602" "94496602" "subst" "0.0234538" "01695" "ABCA4_000913" "g.94496602G>T" "2957, 120728, 46, 0.02449" "{PMID:Goetz 2020:32893963}" "" "c.4203C>A, p.Pro1401Pro Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94031046G>T" "" "likely benign" ""
"0000779633" "0" "90" "1" "94471056" "94471056" "subst" "2.84398E-5" "01695" "ABCA4_000050" "g.94471056G>A" "3, 121402, 0, 0.00002471" "{PMID:Goetz 2020:32893963}" "" "c.6088C>T, p.Arg2030* Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94005500G>A" "" "pathogenic (recessive)" ""
"0000779634" "0" "70" "1" "94463648" "94463648" "subst" "0.000162447" "01695" "ABCA4_001373" "g.94463648G>C" "12, 121234, 1, 0.00009898" "{PMID:Goetz 2020:32893963}" "" "c.6498C>G, p.Ile2166Met Heterozygous" "" "Unknown" "" "" "0" "" "" "g.93998092G>C" "" "likely pathogenic (recessive)" ""
"0000779635" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "5406, 121330, 156, 0.04456" "{PMID:Goetz 2020:32893963}" "" "c.5603A>T, p.Asp.Asn1868Ile Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000779636" "0" "10" "1" "94505604" "94505604" "subst" "0.00645586" "01695" "ABCA4_000092" "g.94505604A>C" "879, 64452, 44, 0.01364" "{PMID:Goetz 2020:32893963}" "" "c.3602T>G, p.Leu1201Arg Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94040048A>C" "" "benign" ""
"0000779637" "0" "30" "1" "94496602" "94496602" "subst" "0.0234538" "01695" "ABCA4_000913" "g.94496602G>T" "2957, 120728, 46, 0.02449" "{PMID:Goetz 2020:32893963}" "" "c.4203C>A, p.Pro1401Pro Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94031046G>T" "" "likely benign" ""
"0000779638" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "42, 120772, 0, 0.0003478" "{PMID:Goetz 2020:32893963}" "" "c.IVS40+5G>A, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000779639" "0" "70" "1" "94546207" "94546207" "subst" "0.000101665" "01695" "ABCA4_000083" "g.94546207G>C" "16, 121336, 0, 0.0001319" "{PMID:Goetz 2020:32893963}" "" "c.926C>G, p.Pro309rg Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94080651G>C" "" "likely pathogenic (recessive)" ""
"0000779640" "0" "70" "1" "94577002" "94577002" "subst" "7.32398E-5" "01695" "ABCA4_000987" "g.94577002G>C" "" "{PMID:Goetz 2020:32893963}" "" "c.294C>G, p.Asn98Lys Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94111446G>C" "" "likely pathogenic (recessive)" ""
"0000779641" "0" "70" "1" "94490567" "94490567" "subst" "5.68528E-5" "01695" "ABCA4_000026" "g.94490567G>A" "4, 121406, 0, 0.00003295" "{PMID:Goetz 2020:32893963}" "" "c.4577C>T, p.Thr1526Met Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94025011G>A" "" "likely pathogenic (recessive)" ""
"0000779642" "0" "90" "1" "94517242" "94517242" "del" "0" "01695" "ABCA4_002006" "g.94517242del" "" "{PMID:Goetz 2020:32893963}" "" "c.2603del, p.(Pro868Hisfs*33) Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94051686del" "" "pathogenic (recessive)" ""
"0000779643" "0" "10" "1" "94497563" "94497563" "subst" "0.00492504" "01695" "ABCA4_000090" "g.94497563C>T" "757, 118654, 27, 0.00638" "{PMID:Goetz 2020:32893963}" "" "c.3899G>A, p.Arg1300Gln Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94032007C>T" "" "benign" ""
"0000779644" "0" "50" "1" "94496693" "94496693" "subst" "0.000163035" "01695" "ABCA4_001845" "g.94496693G>A" "" "{PMID:Goetz 2020:32893963}" "" "c.4129-17C>T, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94031137G>A" "" "VUS" ""
"0000779645" "0" "50" "1" "94526289" "94526289" "subst" "0.000417202" "01695" "ABCA4_000767" "g.94526289A>C" "67, 103634, 0, 0.0006465" "{PMID:Goetz 2020:32893963}" "" "c.1964T>G, p.Phe655Cys Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94060733A>C" "" "VUS" ""
"0000779646" "0" "70" "1" "94522239" "94522239" "subst" "2.03305E-5" "01695" "ABCA4_000736" "g.94522239A>T" "1, 119332, 0, 0.00000838" "{PMID:Goetz 2020:32893963}" "" "c.2300T>A, p.Val767Asp Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94056683A>T" "" "likely pathogenic (recessive)" ""
"0000779647" "0" "50" "1" "94476495" "94476495" "subst" "0" "01695" "ABCA4_000424" "g.94476495A>G" "" "{PMID:Goetz 2020:32893963}" "" "c.IVS39-10T>C, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94010939A>G" "" "VUS" ""
"0000779648" "0" "30" "1" "94496602" "94496602" "subst" "0.0234538" "01695" "ABCA4_000913" "g.94496602G>T" "2957, 120728, 46, 0.02449" "{PMID:Goetz 2020:32893963}" "" "c.4203C>A, p.Pro1401Pro Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94031046G>T" "" "likely benign" ""
"0000779649" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "5406, 121330, 156, 0.04456" "{PMID:Goetz 2020:32893963}" "" "c.5603A>T, p.Asp.Asn1868Ile Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000779650" "0" "90" "1" "94564457" "94564457" "del" "0" "01695" "ABCA4_000379" "g.94564457del" "" "{PMID:Goetz 2020:32893963}" "" "c.664delG, p.Ala222GlnfsX19 Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94098901del" "" "pathogenic (recessive)" ""
"0000779651" "0" "30" "1" "94461754" "94461754" "subst" "0.0642229" "01695" "ABCA4_000951" "g.94461754A>G" "" "{PMID:Goetz 2020:32893963}" "" "c.6730-3T>C, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.93996198A>G" "" "likely benign" ""
"0000779652" "0" "10" "1" "94505604" "94505604" "subst" "0.00645586" "01695" "ABCA4_000092" "g.94505604A>C" "879, 64452, 44, 0.01364" "{PMID:Goetz 2020:32893963}" "" "c.3602T>G, p.(Leu1201Arg) Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94040048A>C" "" "benign" ""
"0000779653" "0" "70" "1" "94470998" "94470998" "subst" "4.06329E-6" "01695" "ABCA4_001616" "g.94470998T>G" "" "{PMID:Goetz 2020:32893963}" "" "c.6146A>C, p.Lys2049Thr Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94005442T>G" "" "likely pathogenic (recessive)" ""
"0000779654" "0" "70" "1" "94576991" "94576991" "subst" "0" "01695" "ABCA4_002220" "g.94576991T>C" "" "{PMID:Goetz 2020:32893963}" "" "c.302+3A>G, Intronic Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94111435T>C" "" "likely pathogenic (recessive)" ""
"0000779655" "0" "90" "1" "94546047" "94546047" "subst" "0" "01695" "ABCA4_000150" "g.94546047A>T" "" "{PMID:Goetz 2020:32893963}" "" "c.1086T>A, p.Tyr362* Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94080491A>T" "" "pathogenic (recessive)" ""
"0000779656" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "5406, 121330, 156, 0.04456" "{PMID:Goetz 2020:32893963}" "" "c.5603A>T, p.Asp.Asn1868Ile Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000779657" "3" "70" "1" "94488942" "94488942" "subst" "8.19309E-6" "01695" "ABCA4_000512" "g.94488942C>G" "" "{PMID:Goetz 2020:32893963}" "" "c.4667G>C, p.Arg1556Thr Homozygous" "" "Unknown" "" "" "0" "" "" "g.94023386C>G" "" "likely pathogenic (recessive)" ""
"0000779658" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "5406, 121330, 156, 0.04456" "{PMID:Goetz 2020:32893963}" "" "c.5603A>T, p.Asp.Asn1868Ile Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000779659" "0" "50" "1" "94496010" "94496010" "subst" "1.62434E-5" "01695" "ABCA4_000549" "g.94496010G>T" "3, 121366, 0, 0.00002472" "{PMID:Goetz 2020:32893963}" "" "c.4326C>A, p.Asn1442Lys Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94030454G>T" "" "VUS" ""
"0000779660" "0" "90" "1" "94497478" "94497478" "del" "0" "01695" "ABCA4_001858" "g.94497478del" "" "{PMID:Goetz 2020:32893963}" "" "c.398delC, p.Pro1329GlnfsX60 Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94031922del" "" "pathogenic (recessive)" ""
"0000779661" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "15, 121412, 0, 0.0001235" "{PMID:Goetz 2020:32893963}" "" "c.1622T>C, p.Leu541Pro Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000779662" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Goetz 2020:32893963}" "" "c.2588G>C, p.Gly863Ala Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000779663" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "5406, 121330, 156, 0.04456" "{PMID:Goetz 2020:32893963}" "" "c.5603A>T, p.Asp.Asn1868Ile Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000779664" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Goetz 2020:32893963}" "" "c.5461-10T>C, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000779665" "0" "70" "1" "94490550" "94490550" "subst" "0.000105588" "01695" "ABCA4_000523" "g.94490550C>T" "11, 121406, 0, 0.00009061" "{PMID:Goetz 2020:32893963}" "" "c.4594G>A, p.Asp1532Asn Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94024994C>T" "" "likely pathogenic (recessive)" ""
"0000779666" "0" "70" "1" "94506969" "94506969" "subst" "7.31166E-5" "01695" "ABCA4_001914" "g.94506969G>A" "" "{PMID:Goetz 2020:32893963}" "" "c.3329-11C>T, heterozygous" "" "Unknown" "" "" "0" "" "" "g.94041413G>A" "" "likely pathogenic (recessive)" ""
"0000779667" "0" "50" "1" "94526952" "94526952" "subst" "0" "01695" "ABCA4_002064" "g.94526952T>C" "" "{PMID:Goetz 2020:32893963}" "" "c.1938-637A>G, heterozygous" "" "Unknown" "" "" "0" "" "" "g.94061396T>C" "" "VUS" ""
"0000779668" "0" "90" "1" "94509026" "94509026" "subst" "4.06497E-5" "01695" "ABCA4_000660" "g.94509026G>A" "5, 120988, 0, 0.00004133" "{PMID:Goetz 2020:32893963}" "" "c.3056C>T, p.Thr1019Met Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94043470G>A" "" "pathogenic (recessive)" ""
"0000779669" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Goetz 2020:32893963}" "" "c.2588G>C, p.Gly863Ala Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000779670" "0" "70" "1" "94528713" "94528713" "subst" "4.87381E-5" "01695" "ABCA4_000072" "g.94528713C>T" "6, 121412, 0, 0.00004942" "{PMID:Goetz 2020:32893963}" "" "c.1715G>A, p.Arg572Gln Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94063157C>T" "" "likely pathogenic (recessive)" ""
"0000779671" "0" "70" "1" "94496548" "94496548" "subst" "2.43787E-5" "01695" "ABCA4_000088" "g.94496548G>A" "2, 120802, 0, 0.00001656" "{PMID:Goetz 2020:32893963}" "" "c.4253+4C>T, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94030992G>A" "" "likely pathogenic (recessive)" ""
"0000779672" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "24, 119274, 0, 0.0002012" "{PMID:Goetz 2020:32893963}" "" "c.4139C>T, p.Pro1380Leu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000779673" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "173, 121304, 0, 0.001426" "{PMID:Goetz 2020:32893963}" "" "c.3113C>T, p.Ala1038Val Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000779674" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Goetz 2020:32893963}" "" "c.2588G>C, p.Gly863Ala Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000779675" "0" "50" "1" "94496008" "94496008" "subst" "2.03056E-5" "01695" "ABCA4_000148" "g.94496008C>T" "3, 121360, 0, 0.00002472" "{PMID:Goetz 2020:32893963}" "" "c.4328G>A, p.Arg1443His Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94030452C>T" "" "VUS" ""
"0000779676" "0" "90" "1" "94508435" "94508436" "dup" "0" "01695" "ABCA4_000998" "g.94508435_94508436dup" "" "{PMID:Goetz 2020:32893963}" "" "c.3210_3211dupGT, p.Ser1071CysfsX14 Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94042879_94042880dup" "" "pathogenic (recessive)" ""
"0000779677" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Goetz 2020:32893963}" "" "c.5882G>A, p.Gly1961Glu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000779678" "0" "50" "1" "94564352" "94564352" "subst" "4.06187E-6" "01695" "ABCA4_002174" "g.94564352C>A" "" "{PMID:Goetz 2020:32893963}" "" "c.766G>T, p.Val256Leu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94098796C>A" "" "VUS" ""
"0000779679" "0" "70" "1" "94520688" "94520688" "subst" "0" "01695" "ABCA4_001517" "g.94520688A>T" "" "{PMID:Goetz 2020:32893963}" "" "c.2566T>A, p.Tyr856Asn Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94055132A>T" "" "likely pathogenic (recessive)" ""
"0000779680" "0" "90" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "227, 121250, 3, 0.001872" "{PMID:Goetz 2020:32893963}" "" "c.6320G>A, p.Arg2107His Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94001068C>T" "" "pathogenic (recessive)" ""
"0000779681" "0" "90" "1" "94526296" "94526296" "subst" "1.64555E-5" "01695" "ABCA4_000768" "g.94526296G>A" "1, 96614, 0, 0.00001035" "{PMID:Goetz 2020:32893963}" "" "c.1957C>T, p.Arg653Cys Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94060740G>A" "" "pathogenic (recessive)" ""
"0000779682" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Goetz 2020:32893963}" "" "c.2588G>C, p.Gly863Ala Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000779683" "0" "90" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "14, 120056, 0, 0.0001166" "{PMID:Goetz 2020:32893963}" "" "c.634C>T, p.Arg212Cys Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94098928G>A" "" "pathogenic (recessive)" ""
"0000779684" "0" "50" "1" "94510288" "94510288" "subst" "6.09102E-5" "01695" "ABCA4_001970" "g.94510288C>T" "" "{PMID:Goetz 2020:32893963}" "" "c.2931G>A, p.(Thr977=) Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94044732C>T" "" "VUS" ""
"0000779685" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Goetz 2020:32893963}" "" "c.2588G>C, p.Gly863Ala Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000779686" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "5406, 121330, 156, 0.04456" "{PMID:Goetz 2020:32893963}" "" "c.5603A>T, p.Asp.Asn1868Ile Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000779687" "0" "30" "1" "94496602" "94496602" "subst" "0.0234538" "01695" "ABCA4_000913" "g.94496602G>T" "2957, 120728, 46, 0.02449" "{PMID:Goetz 2020:32893963}" "" "c.4203C>A, p.Pro1401Pro Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94031046G>T" "" "likely benign" ""
"0000779688" "0" "50" "1" "94487404" "94487404" "subst" "0.00244055" "01695" "ABCA4_000497" "g.94487404C>T" "317, 121146, 0, 0.002617" "{PMID:Goetz 2020:32893963}" "" "c.4771G>A, p.Gly1591Arg Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94021848C>T" "" "VUS" ""
"0000779689" "0" "70" "1" "94471154" "94471154" "subst" "0.156733" "01695" "ABCA4_000881" "g.94471154C>T" "" "{PMID:Goetz 2020:32893963}" "" "c.IVS43-16G>A, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94005598C>T" "" "likely pathogenic (recessive)" ""
"0000779690" "0" "70" "1" "94577010" "94577010" "subst" "4.06679E-6" "01695" "ABCA4_000225" "g.94577010T>G" "" "{PMID:Goetz 2020:32893963}" "" "c.286A>C, p.Asn96His Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94111454T>G" "" "likely pathogenic (recessive)" ""
"0000779691" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "14, 121282, 0, 0.0001154" "{PMID:Goetz 2020:32893963}" "" "c.3322C>T, p.Arg1108Cys Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000779692" "0" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "12, 60116, 0, 0.0001996" "{PMID:Goetz 2020:32893963}" "" "c.4469G>A, p.Cys1490Tyr Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94029515C>T" "" "likely pathogenic (recessive)" ""
"0000779693" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Goetz 2020:32893963}" "" "c.5882G>A, p.Gly1961Glu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000779694" "0" "70" "1" "94467547" "94467547" "subst" "0" "01695" "ABCA4_001611" "g.94467547A>G" "" "{PMID:Goetz 2020:32893963}" "" "c.6149T>C, p.Val2050Ala Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94001991A>G" "" "likely pathogenic (recessive)" ""
"0000779695" "0" "70" "1" "94522248" "94522248" "subst" "0" "01695" "ABCA4_000741" "g.94522248C>T" "" "{PMID:Goetz 2020:32893963}" "" "c.2291G>A, p.Cys764Tyr Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94056692C>T" "" "likely pathogenic (recessive)" ""
"0000779696" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Goetz 2020:32893963}" "" "c.5461-10T>C, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000779697" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Goetz 2020:32893963}" "" "c.5882G>A, p.Gly1961Glu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000779698" "0" "90" "1" "94490606" "94490606" "subst" "4.06091E-6" "01695" "ABCA4_000086" "g.94490606T>C" "" "{PMID:Goetz 2020:32893963}" "" "c.4540-2A>G, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94025050T>C" "" "pathogenic (recessive)" ""
"0000779699" "0" "50" "1" "94473287" "94473287" "subst" "0.00293818" "01695" "ABCA4_000395" "g.94473287G>A" "352, 120336, 1, 0.002925" "{PMID:Goetz 2020:32893963}" "" "c.5908C>T, p.Leu1970Phe Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94007731G>A" "" "VUS" ""
"0000779700" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Goetz 2020:32893963}" "" "c.5882G>A, p.Gly1961Glu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000779701" "0" "90" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "227, 121250, 3, 0.001872" "{PMID:Goetz 2020:32893963}" "" "c.6320G>A, p.Arg2107His Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94001068C>T" "" "pathogenic (recessive)" ""
"0000779702" "0" "90" "1" "94522194" "94522194" "subst" "0" "01695" "ABCA4_000733" "g.94522194C>T" "" "{PMID:Goetz 2020:32893963}" "" "c.2345G>A, p.Trp782Stop Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94056638C>T" "" "pathogenic (recessive)" ""
"0000779703" "0" "70" "1" "94578524" "94578524" "subst" "0" "01695" "ABCA4_000068" "g.94578524C>G" "" "{PMID:Goetz 2020:32893963}" "" "c.160+5G>C, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94112968C>G" "" "likely pathogenic (recessive)" ""
"0000779704" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "42, 120772, 0, 0.0003478" "{PMID:Goetz 2020:32893963}" "" "c.IVS40+5G>Ac.5714+5G>A, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000779705" "0" "70" "1" "94506923" "94506923" "subst" "2.43657E-5" "01695" "ABCA4_000012" "g.94506923C>T" "3, 121394, 0, 0.00002471" "{PMID:Goetz 2020:32893963}" "" "c.3364G>A, p.Glu1122Lys Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94041367C>T" "" "likely pathogenic (recessive)" ""
"0000779706" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Goetz 2020:32893963}" "" "c.5882G>A, p.Gly1961Glu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000779707" "0" "90" "1" "94510253" "94510253" "subst" "0.000247694" "01695" "ABCA4_000108" "g.94510253A>G" "36, 121412, 0, 0.0002965" "{PMID:Goetz 2020:32893963}" "" "c.2966C>T, p.Val989la Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94044697A>G" "" "pathogenic (recessive)" ""
"0000779708" "0" "90" "1" "94497417" "94497417" "subst" "0" "01695" "ABCA4_001854" "g.94497417G>A" "" "{PMID:Goetz 2020:32893963}" "" "c.4045C>T, p.Gln1349Stop Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94031861G>A" "" "pathogenic (recessive)" ""
"0000779709" "0" "70" "1" "94486895" "94486895" "subst" "3.24923E-5" "01695" "ABCA4_000484" "g.94486895C>T" "7, 121398, 0, 0.00005766" "{PMID:Goetz 2020:32893963}" "" "c.4919G>A, p.Arg1640Gln Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94021339C>T" "" "likely pathogenic (recessive)" ""
"0000779710" "0" "90" "1" "94485137" "94485137" "subst" "0" "01695" "ABCA4_000464" "g.94485137C>T" "3, 49858, 0, 0.00006017" "{PMID:Goetz 2020:32893963}" "" "c.5196+1G>A, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94019581C>T" "" "pathogenic (recessive)" ""
"0000779711" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "15, 121412, 0, 0.0001235" "{PMID:Goetz 2020:32893963}" "" "c.1622T>C, p.Leu541Pro Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000779712" "0" "70" "1" "94485206" "94485206" "subst" "8.20042E-6" "01695" "ABCA4_001729" "g.94485206T>G" "" "{PMID:Goetz 2020:32893963}" "" "c.5128A>C, p.Lys1710Gln Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94019650T>G" "" "likely pathogenic (recessive)" ""
"0000779713" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "24, 119274, 0, 0.0002012" "{PMID:Goetz 2020:32893963}" "" "c.4139C>T, p.Pro1380Leu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000779714" "0" "70" "1" "94496548" "94496548" "subst" "2.43787E-5" "01695" "ABCA4_000088" "g.94496548G>A" "2, 120802, 0, 0.00001656" "{PMID:Goetz 2020:32893963}" "" "c.4253+4C>T, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94030992G>A" "" "likely pathogenic (recessive)" ""
"0000779715" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "24, 119274, 0, 0.0002012" "{PMID:Goetz 2020:32893963}" "" "c.4139C>T, p.Pro1380Leu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000779716" "0" "90" "1" "94564457" "94564457" "del" "0" "01695" "ABCA4_000379" "g.94564457del" "" "{PMID:Goetz 2020:32893963}" "" "c.661delG, p.Gly221fs Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94098901del" "" "pathogenic (recessive)" ""
"0000779717" "0" "90" "1" "94510253" "94510253" "subst" "0.000247694" "01695" "ABCA4_000108" "g.94510253A>G" "36, 121412, 0, 0.0002965" "{PMID:Goetz 2020:32893963}" "" "c.2966T>C, p.Val989la Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94044697A>G" "" "pathogenic (recessive)" ""
"0000779718" "0" "90" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "227, 121250, 3, 0.001872" "{PMID:Goetz 2020:32893963}" "" "c.6320G>A, p.Arg2107His Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94001068C>T" "" "pathogenic (recessive)" ""
"0000779719" "0" "70" "1" "94528143" "94528143" "subst" "0.00124448" "01695" "ABCA4_000076" "g.94528143C>T" "196, 121108, 1, 0.001618" "{PMID:Goetz 2020:32893963}" "" "c.1927G>A, p.Val643Met Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94062587C>T" "" "likely pathogenic (recessive)" ""
"0000779720" "0" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "12, 60116, 0, 0.0001996" "{PMID:Goetz 2020:32893963}" "" "c.4469G>A, p.Cys1490Tyr Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94029515C>T" "" "likely pathogenic (recessive)" ""
"0000779721" "0" "70" "1" "94528151" "94528151" "subst" "0" "01695" "ABCA4_000265" "g.94528151G>A" "" "{PMID:Goetz 2020:32893963}" "" "c.1919C>T, p.Pro640Leu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94062595G>A" "" "likely pathogenic (recessive)" ""
"0000779722" "0" "70" "1" "94528713" "94528713" "subst" "4.87381E-5" "01695" "ABCA4_000072" "g.94528713C>T" "6, 121412, 0, 0.00004942" "{PMID:Goetz 2020:32893963}" "" "c.1715G>A, p.Arg572Gln Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94063157C>T" "" "likely pathogenic (recessive)" ""
"0000779723" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "30, 121388, 0, 0.0002471" "{PMID:Goetz 2020:32893963}" "" "c.3386G>T, p.Arg1129Leu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000779724" "0" "50" "1" "94480164" "94480164" "subst" "0" "01695" "ABCA4_000440" "g.94480164T>C" "" "{PMID:Goetz 2020:32893963}" "" "c.5395A>G, p.Asn1799sp Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94014608T>C" "" "VUS" ""
"0000779725" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "173, 121304, 0, 0.001426" "{PMID:Goetz 2020:32893963}" "" "c.3113C>T, p.Ala1038Val Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000779726" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "5406, 121330, 156, 0.04456" "{PMID:Goetz 2020:32893963}" "" "c.5603A>T, p.Asp.Asn1868Ile Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000779727" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "5406, 121330, 156, 0.04456" "{PMID:Goetz 2020:32893963}" "" "c.5603A>T, p.Asp.Asn1868Ile Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000779728" "0" "50" "1" "94496039" "94496039" "subst" "0.00157963" "01695" "ABCA4_000552" "g.94496039C>T" "173, 121380, 1, 0.001425" "{PMID:Goetz 2020:32893963}" "" "c.4297G>A, p.Val1433Ile Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94030483C>T" "" "VUS" ""
"0000779729" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Goetz 2020:32893963}" "" "c.2588G>C, p.Gly863Ala Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000779730" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "6, 119038, 0, 0.0000504" "{PMID:Goetz 2020:32893963}" "" "c.1804C>T, p.Arg602Trp Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94062710G>A" "" "pathogenic (recessive)" ""
"0000779731" "0" "70" "1" "94546261" "94546261" "subst" "0.000648567" "01695" "ABCA4_000353" "g.94546261G>A" "65, 120922, 1, 0.0005375" "{PMID:Goetz 2020:32893963}" "" "c.872C>T, p.Pro291Leu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94080705G>A" "" "likely pathogenic (recessive)" ""
"0000779732" "0" "50" "1" "94568675" "94568675" "subst" "0.00146249" "01695" "ABCA4_000210" "g.94568675T>C" "159, 120956, 0, 0.001315" "{PMID:Goetz 2020:32893963}" "" "c.466A>G, p.Ile156Val Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94103119T>C" "" "VUS" ""
"0000779733" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "42, 120772, 0, 0.0003478" "{PMID:Goetz 2020:32893963}" "" "c.IVS40+5G>A, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000779734" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "26, 121404, 0, 0.0002142" "{PMID:Goetz 2020:32893963}" "" "c.6079C>T, p.Leu2027Phe Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic (recessive)" ""
"0000779735" "0" "90" "1" "94471026" "94471026" "subst" "1.21925E-5" "01695" "ABCA4_000791" "g.94471026G>A" "2, 121394, 0, 0.00001648" "{PMID:Goetz 2020:32893963}" "" "c.6118C>T, p.Arg2040* Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94005470G>A" "" "pathogenic (recessive)" ""
"0000779736" "0" "70" "1" "94480178" "94480178" "subst" "2.43692E-5" "01695" "ABCA4_000005" "g.94480178G>T" "3, 121408, 0, 0.00002471" "{PMID:Goetz 2020:32893963}" "" "c.5381C>A, p.Ala1794Asp Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94014622G>T" "" "likely pathogenic (recessive)" ""
"0000779737" "0" "70" "1" "94528248" "94528248" "subst" "1.22148E-5" "01695" "ABCA4_000279" "g.94528248A>T" "1, 119894, 0, 0.000008341" "{PMID:Goetz 2020:32893963}" "" "c.1822T>A, p.Phe608Ile Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94062692A>T" "" "likely pathogenic (recessive)" ""
"0000779738" "0" "50" "1" "94528137" "94528137" "subst" "2.03363E-5" "01695" "ABCA4_000774" "g.94528137C>T" "1, 121050, 0, 0.000008261" "{PMID:Goetz 2020:32893963}" "" "c.1933G>A, p.Asp645Asn Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94062581C>T" "" "VUS" ""
"0000779739" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Goetz 2020:32893963}" "" "c.5461-10T>C, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000779740" "0" "30" "1" "94496602" "94496602" "subst" "0.0234538" "01695" "ABCA4_000913" "g.94496602G>T" "2957, 120728, 46, 0.02449" "{PMID:Goetz 2020:32893963}" "" "c.4203C>A, p.Pro1401Pro Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94031046G>T" "" "likely benign" ""
"0000779741" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "5406, 121330, 156, 0.04456" "{PMID:Goetz 2020:32893963}" "" "c.5603A>T, p.Asp.Asn1868Ile Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000779742" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "6, 119038, 0, 0.0000504" "{PMID:Goetz 2020:32893963}" "" "c.1804C>T, p.Arg602Trp Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94062710G>A" "" "pathogenic (recessive)" ""
"0000779743" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "42, 120772, 0, 0.0003478" "{PMID:Goetz 2020:32893963}" "" "c.5714+5G>A, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000779744" "0" "70" "1" "94577135" "94577135" "subst" "2.43718E-5" "01695" "ABCA4_000240" "g.94577135C>T" "2, 121210, 0, 0.0000165" "{PMID:Goetz 2020:32893963}" "" "c.161G>A, p.Cys54Tyr Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94111579C>T" "" "likely pathogenic (recessive)" ""
"0000779745" "0" "90" "1" "94544185" "94544185" "subst" "8.12137E-6" "01695" "ABCA4_000177" "g.94544185C>T" "1, 121412, 0, 0.000008236" "{PMID:Goetz 2020:32893963}" "" "c.1317G>A, p.Trp439Stop Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94078629C>T" "" "pathogenic (recessive)" ""
"0000779746" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Goetz 2020:32893963}" "" "c.5882G>A, p.Gly1961Glu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000779747" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "173, 121304, 0, 0.001426" "{PMID:Goetz 2020:32893963}" "" "c.3113C>T, p.Ala1038Val Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000779748" "0" "90" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "21, 121302, 0, 0.0001731" "{PMID:Goetz 2020:32893963}" "" "c.2894A>G, p.Asn965Ser Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94046943T>C" "" "pathogenic (recessive)" ""
"0000779749" "0" "70" "1" "94528143" "94528143" "subst" "0.00124448" "01695" "ABCA4_000076" "g.94528143C>T" "196, 121108, 1, 0.001618" "{PMID:Goetz 2020:32893963}" "" "c.1927G>A, p.(Val643Met) Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94062587C>T" "" "likely pathogenic (recessive)" ""
"0000779750" "0" "50" "1" "94544140" "94544141" "ins" "0.000938872" "01695" "ABCA4_001241" "g.94544140_94544141insG" "" "{PMID:Goetz 2020:32893963}" "" "c.1356+5_1356+6insC, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94078584_94078585insG" "" "VUS" ""
"0000779751" "0" "70" "1" "94506838" "94506838" "subst" "1.21827E-5" "01695" "ABCA4_000616" "g.94506838C>T" "3, 121394, 0, 0.00002471" "{PMID:Goetz 2020:32893963}" "" "c.3449G>A, p.Cys1150Tyr heterozygous" "" "Unknown" "" "" "0" "" "" "g.94041282C>T" "" "likely pathogenic (recessive)" ""
"0000779752" "0" "90" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "227, 121250, 3, 0.001872" "{PMID:Goetz 2020:32893963}" "" "c.6320G>A, p.Arg2107His heterozygous" "" "Unknown" "" "" "0" "" "" "g.94001068C>T" "" "pathogenic (recessive)" ""
"0000779753" "0" "70" "1" "94487463" "94487463" "subst" "8.12189E-6" "01695" "ABCA4_001762" "g.94487463A>T" "" "{PMID:Goetz 2020:32893963}" "" "c.4712T>A, p.Ile1571Asn Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94021907A>T" "" "likely pathogenic (recessive)" ""
"0000779754" "3" "50" "1" "94578548" "94578548" "subst" "0" "01695" "ABCA4_002240" "g.94578548C>T" "" "{PMID:Goetz 2020:32893963}" "" "c.141A>G, p.Pro47= Homozygous" "" "Unknown" "" "" "0" "" "" "" "" "VUS" ""
"0000779755" "3" "30" "1" "94576968" "94576968" "subst" "0.519705" "01695" "ABCA4_000949" "g.94576968T>C" "" "{PMID:Goetz 2020:32893963}" "" "c.302+26A>G, Homozygous" "" "Unknown" "" "" "0" "" "" "g.94111412T>C" "" "likely benign" ""
"0000779756" "3" "50" "1" "94578548" "94578548" "subst" "0" "01695" "ABCA4_002240" "g.94578548C>T" "" "{PMID:Goetz 2020:32893963}" "" "c.141A>G, p.Pro47= Homozygous" "" "Unknown" "" "" "0" "" "" "" "" "VUS" ""
"0000779757" "3" "30" "1" "94576968" "94576968" "subst" "0.519705" "01695" "ABCA4_000949" "g.94576968T>C" "" "{PMID:Goetz 2020:32893963}" "" "c.302+26A>G, Homozygous" "" "Unknown" "" "" "0" "" "" "g.94111412T>C" "" "likely benign" ""
"0000779758" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Goetz 2020:32893963}" "" "c.2588G>C, p.Gly863Ala Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000779759" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Goetz 2020:32893963}" "" "c.5461-10T>C, IVS38-10T>C Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000779760" "0" "90" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "14, 120056, 0, 0.0001166" "{PMID:Goetz 2020:32893963}" "" "c.634C>T, p.Arg212Cys heterozygous" "" "Unknown" "" "" "0" "" "" "g.94098928G>A" "" "pathogenic (recessive)" ""
"0000779761" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "26, 121404, 0, 0.0002142" "{PMID:Goetz 2020:32893963}" "" "c.6079C>T, p.Leu2027Phe Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic (recessive)" ""
"0000779762" "0" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "12, 60116, 0, 0.0001996" "{PMID:Goetz 2020:32893963}" "" "c.4469G>A, p.Cys1490Tyr Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94029515C>T" "" "likely pathogenic (recessive)" ""
"0000779763" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Goetz 2020:32893963}" "" "c.5882G>A, p.Gly1961Glu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000779764" "0" "90" "1" "94508386" "94508386" "subst" "1.62443E-5" "01695" "ABCA4_000642" "g.94508386C>T" "4, 121376, 0, 0.00003296" "{PMID:Goetz 2020:32893963}" "" "c.3259G>A, p.Glu1087Lys Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94042830C>T" "" "pathogenic (recessive)" ""
"0000779765" "0" "90" "1" "94466628" "94466628" "subst" "0.000109748" "01695" "ABCA4_000094" "g.94466628G>A" "14, 121222, 0, 0.0001155" "{PMID:Goetz 2020:32893963}" "" "c.6316C>T, p.Arg2106Cys Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94001072G>A" "" "pathogenic (recessive)" ""
"0000779766" "0" "50" "1" "94474320" "94474320" "subst" "4.06065E-6" "01695" "ABCA4_000407" "g.94474320T>G" "" "{PMID:Goetz 2020:32893963}" "" "c.5822A>C, p.His1941Pro Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94008764T>G" "" "VUS" ""
"0000779767" "0" "70" "1" "94586550" "94586550" "subst" "1.21864E-5" "01695" "ABCA4_000037" "g.94586550G>A" "3, 121392, 0, 0.00002471" "{PMID:Goetz 2020:32893963}" "" "c.52C>T, p.Arg18Trp Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94120994G>A" "" "likely pathogenic (recessive)" ""
"0000779768" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Goetz 2020:32893963}" "" "c.5461-10T>C, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000779769" "0" "50" "1" "94463425" "94463425" "subst" "0.000109787" "01695" "ABCA4_000853" "g.94463425G>C" "20, 121058, 0, 0.0001652" "{PMID:Goetz 2020:32893963}" "" "c.6721C>G, p.Leu2241Val Heterozygous" "" "Unknown" "" "" "0" "" "" "g.93997869G>C" "" "VUS" ""
"0000779770" "0" "30" "1" "94496602" "94496602" "subst" "0.0234538" "01695" "ABCA4_000913" "g.94496602G>T" "2957, 120728, 46, 0.02449" "{PMID:Goetz 2020:32893963}" "" "c.4203C>A, p.Pro1401Pro Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94031046G>T" "" "likely benign" ""
"0000779771" "0" "70" "1" "94484001" "94484001" "subst" "0" "01695" "ABCA4_000016" "g.94484001C>T" "" "{PMID:Goetz 2020:32893963}" "" "c.5196+1137G>A, heterozygous" "" "Unknown" "" "" "0" "" "" "g.94018445C>T" "" "likely pathogenic (recessive)" ""
"0000779772" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "173, 121304, 0, 0.001426" "{PMID:Goetz 2020:32893963}" "" "c.3113C>T, p.Ala1038Val Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000779773" "0" "90" "1" "94476828" "94476828" "subst" "0" "01695" "ABCA4_001679" "g.94476828A>T" "" "{PMID:Goetz 2020:32893963}" "" "c.5574T>A, p.Tyr1858Ter Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94011272A>T" "" "pathogenic (recessive)" ""
"0000779774" "0" "70" "1" "94508322" "94508322" "subst" "1.62513E-5" "01695" "ABCA4_000128" "g.94508322C>T" "2, 121288, 0, 0.00001649" "{PMID:Goetz 2020:32893963}" "" "c.3323G>A, p.Arg1108His heterozygous" "" "Unknown" "" "" "0" "" "" "g.94042766C>T" "" "likely pathogenic (recessive)" ""
"0000779775" "0" "90" "1" "94508435" "94508436" "dup" "0" "01695" "ABCA4_000998" "g.94508435_94508436dup" "" "{PMID:Goetz 2020:32893963}" "" "c.3210_3211dup" "" "Unknown" "" "" "0" "" "" "g.94042879_94042880dup" "" "pathogenic (recessive)" ""
"0000779776" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "173, 121304, 0, 0.001426" "{PMID:Goetz 2020:32893963}" "" "c.3113C>T, p.Ala1038Val Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000779777" "0" "30" "1" "94461754" "94461754" "subst" "0.0642229" "01695" "ABCA4_000951" "g.94461754A>G" "" "{PMID:Goetz 2020:32893963}" "" "c.6730-3T>C, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.93996198A>G" "" "likely benign" ""
"0000779778" "0" "70" "1" "94577008" "94577008" "subst" "0" "01695" "ABCA4_000223" "g.94577008G>T" "" "{PMID:Goetz 2020:32893963}" "" "c.288C>A, p.Asn96Lys Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94111452G>T" "" "likely pathogenic (recessive)" ""
"0000779779" "0" "90" "1" "94466426" "94466426" "subst" "1.62433E-5" "01695" "ABCA4_000124" "g.94466426G>A" "2, 121400, 0, 0.00001647" "{PMID:Goetz 2020:32893963}" "" "c.6445C>T, p.Arg2149Ter Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94000870G>A" "" "pathogenic (recessive)" ""
"0000779780" "0" "90" "1" "94510248" "94510248" "subst" "0.000544123" "01695" "ABCA4_000107" "g.94510248C>G" "87, 121410, 0, 0.0007166" "{PMID:Goetz 2020:32893963}" "" "c.2971G>C, p.Gly991Arg heterozygous" "" "Unknown" "" "" "0" "" "" "g.94044692C>G" "" "pathogenic (recessive)" ""
"0000779781" "0" "70" "1" "94528818" "94528818" "subst" "0.00205975" "01695" "ABCA4_001239" "g.94528818C>T" "239, 121412, 0, 0.001969" "{PMID:Goetz 2020:32893963}" "" "c.1610G>A, p.Arg537His Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94063262C>T" "" "likely pathogenic (recessive)" ""
"0000779782" "0" "50" "1" "94544977" "94544977" "subst" "0.000544432" "01695" "ABCA4_000332" "g.94544977A>T" "60, 121404, 0, 0.0004942" "{PMID:Goetz 2020:32893963}" "" "c.1140T>A, p.(Asn380Lys) Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94079421A>T" "" "VUS" ""
"0000779783" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "42, 120772, 0, 0.0003478" "{PMID:Goetz 2020:32893963}" "" "c.IVS40+5G>A, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000779784" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "15, 121412, 0, 0.0001235" "{PMID:Goetz 2020:32893963}" "" "c.1622T>C, p.Leu541Pro Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000779785" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Goetz 2020:32893963}" "" "c.5882G>A, p.Gly1961Glu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000779786" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "5406, 121330, 156, 0.04456" "{PMID:Goetz 2020:32893963}" "" "c.5603A>T, p.(Asn1868Ile) Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000779787" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Goetz 2020:32893963}" "" "c.5882G>A, p.(Gly1961Glu) Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000779788" "0" "70" "1" "94528143" "94528143" "subst" "0.00124448" "01695" "ABCA4_000076" "g.94528143C>T" "196, 121108, 1, 0.001618" "{PMID:Goetz 2020:32893963}" "" "c.1927G>A, p.Val643Met Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94062587C>T" "" "likely pathogenic (recessive)" ""
"0000779789" "0" "90" "1" "94496084" "94496084" "subst" "0" "01695" "ABCA4_000011" "g.94496084T>C" "" "{PMID:Goetz 2020:32893963}" "" "c.IVS28-2A>G, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94030528T>C" "" "pathogenic (recessive)" ""
"0000779790" "0" "90" "1" "94546047" "94546047" "subst" "0" "01695" "ABCA4_000150" "g.94546047A>T" "" "{PMID:Goetz 2020:32893963}" "" "c.1086T>A, p.Y362X heterozygous" "" "Unknown" "" "" "0" "" "" "g.94080491A>T" "" "pathogenic (recessive)" ""
"0000779791" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "173, 121304, 0, 0.001426" "{PMID:Goetz 2020:32893963}" "" "c.3113C>T, p.Ala1038Val Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000779792" "0" "50" "1" "94526211" "94526211" "subst" "2.43974E-5" "01695" "ABCA4_000758" "g.94526211C>T" "2, 120882, 0, 0.00001655" "{PMID:Goetz 2020:32893963}" "" "c.2042G>A, p.Arg681Gln Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94060655C>T" "" "VUS" ""
"0000779793" "0" "70" "1" "94577135" "94577135" "subst" "2.43718E-5" "01695" "ABCA4_000240" "g.94577135C>T" "2, 121210, 0, 0.0000165" "{PMID:Goetz 2020:32893963}" "" "c.161G>A, p.Cys54Tyr Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94111579C>T" "" "likely pathogenic (recessive)" ""
"0000779794" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Goetz 2020:32893963}" "" "c.5882G>A, p.Gly1961Glu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000779795" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "5406, 121330, 156, 0.04456" "{PMID:Goetz 2020:32893963}" "" "c.5603A>T, p.Asp.Asn1868Ile Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000779796" "3" "50" "1" "94578548" "94578548" "subst" "0" "01695" "ABCA4_002240" "g.94578548C>T" "" "{PMID:Goetz 2020:32893963}" "" "c.141A>G, p.Pro47 Homozygous" "" "Unknown" "" "" "0" "" "" "" "" "VUS" ""
"0000779797" "0" "50" "1" "94495034" "94495034" "subst" "1.58698E-5" "01695" "ABCA4_000964" "g.94495034G>A" "1, 29144, 0, 0.00003431" "{PMID:Goetz 2020:32893963}" "" "c.4506C>T, p.Cys1502= Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94029478G>A" "" "VUS" ""
"0000779798" "0" "70" "1" "94487466" "94487466" "subst" "4.06134E-6" "01695" "ABCA4_001764" "g.94487466G>A" "" "{PMID:Goetz 2020:32893963}" "" "c.4709C>T, p.Pro1570Leu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94021910G>A" "" "likely pathogenic (recessive)" ""
"0000779799" "0" "50" "1" "94528359" "94528359" "subst" "0.014173" "01695" "ABCA4_002085" "g.94528359C>T" "" "{PMID:Goetz 2020:32893963}" "" "c.1761-50G>A, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94062803C>T" "" "VUS" ""
"0000779800" "0" "50" "1" "94476377" "94476377" "subst" "0.00160473" "01695" "ABCA4_000411" "g.94476377C>T" "216, 121058, 1, 0.001784" "{PMID:Goetz 2020:32893963}" "" "c.5693G>A, p.(Arg1898His) Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94010821C>T" "" "VUS" ""
"0000779801" "0" "90" "1" "94544906" "94544906" "subst" "4.06144E-6" "01695" "ABCA4_001478" "g.94544906G>C" "" "{PMID:Goetz 2020:32893963}" "" "c.1211C>G, p.Ser404Ter Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94079350G>C" "" "pathogenic (recessive)" ""
"0000779802" "0" "70" "1" "94471055" "94471055" "subst" "0.00035346" "01695" "ABCA4_000029" "g.94471055C>T" "47, 121404, 1, 0.0003871" "{PMID:Goetz 2020:32893963}" "" "c.6089G>A, p.Arg2030Gln Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94005499C>T" "" "likely pathogenic (recessive)" ""
"0000779803" "0" "90" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "227, 121250, 3, 0.001872" "{PMID:Goetz 2020:32893963}" "" "c.6320G>A, p.Arg2107His Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94001068C>T" "" "pathogenic (recessive)" ""
"0000779804" "3" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "5406, 121330, 156, 0.04456" "{PMID:Goetz 2020:32893963}" "" "c.5603A>T, p.(Asn1868Ile) Homozygous" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000779805" "0" "70" "1" "94496583" "94496583" "subst" "2.03092E-5" "01695" "ABCA4_000190" "g.94496583A>G" "1, 120898, 0, 0.000008271" "{PMID:Goetz 2020:32893963}" "" "c.4222T>C, p.Trp1408Arg Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94031027A>G" "" "likely pathogenic (recessive)" ""
"0000779806" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Goetz 2020:32893963}" "" "c.5461-10T>C, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000779807" "0" "30" "1" "94496602" "94496602" "subst" "0.0234538" "01695" "ABCA4_000913" "g.94496602G>T" "2957, 120728, 46, 0.02449" "{PMID:Goetz 2020:32893963}" "" "c.4203C>A, p.Pro1401Pro Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94031046G>T" "" "likely benign" ""
"0000779808" "0" "70" "1" "94544249" "94544249" "subst" "8.12196E-6" "01695" "ABCA4_000323" "g.94544249A>G" "" "{PMID:Goetz 2020:32893963}" "" "c.1253T>C, p.Phe418Ser Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94078693A>G" "" "likely pathogenic (recessive)" ""
"0000779809" "0" "90" "1" "94485137" "94485137" "subst" "0" "01695" "ABCA4_000464" "g.94485137C>T" "3, 49858, 0, 0.00006017" "{PMID:Goetz 2020:32893963}" "" "c.5196+1G>A, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94019581C>T" "" "pathogenic (recessive)" ""
"0000779810" "0" "70" "1" "94578619" "94578619" "subst" "2.85088E-5" "01695" "ABCA4_000253" "g.94578619G>A" "5, 120400, 0, 0.00004153" "{PMID:Goetz 2020:32893963}" "" "c.70C>T, p.Arg24Cys Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94113063G>A" "" "likely pathogenic (recessive)" ""
"0000779811" "0" "50" "1" "94520708" "94520708" "subst" "0.00102774" "01695" "ABCA4_000074" "g.94520708A>G" "162, 121382, 1, 0.001335" "{PMID:Goetz 2020:32893963}" "" "c.2546T>C, p.Val849la Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94055152A>G" "" "VUS" ""
"0000779812" "0" "70" "1" "94512478" "94512478" "subst" "3.65871E-5" "01695" "ABCA4_000678" "g.94512478G>T" "7, 121308, 0, 0.0000577" "{PMID:Goetz 2020:32893963}" "" "c.2915C>A, p.Thr972Asn Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94046922G>T" "" "likely pathogenic (recessive)" ""
"0000779813" "0" "70" "1" "94546207" "94546207" "subst" "0.000101665" "01695" "ABCA4_000083" "g.94546207G>C" "16, 121336, 0, 0.0001319" "{PMID:Goetz 2020:32893963}" "" "c.926C>G, p.Pro309rg Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94080651G>C" "" "likely pathogenic (recessive)" ""
"0000779814" "0" "70" "1" "94528819" "94528819" "subst" "2.03128E-5" "01695" "ABCA4_000078" "g.94528819G>A" "2, 121412, 0, 0.00001647" "{PMID:Goetz 2020:32893963}" "" "c.1609C>T, p.Arg537Cys Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94063263G>A" "" "likely pathogenic (recessive)" ""
"0000779815" "0" "70" "1" "94502318" "94502323" "del" "0" "01695" "ABCA4_000591" "g.94502318_94502323del" "" "{PMID:Goetz 2020:32893963}" "" "c.3840_3845delTGATTC, p.Asp1281_Ser1282del Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94036762_94036767del" "" "likely pathogenic (recessive)" ""
"0000779816" "0" "90" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "227, 121250, 3, 0.001872" "{PMID:Goetz 2020:32893963}" "" "c.6320G>A, p.Arg2107His Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94001068C>T" "" "pathogenic (recessive)" ""
"0000779817" "0" "70" "1" "94487251" "94487251" "subst" "2.85679E-5" "01695" "ABCA4_000490" "g.94487251G>T" "3, 113672, 0, 0.00002639" "{PMID:Goetz 2020:32893963}" "" "c.4793C>A, p.Ala598Asp Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94021695G>T" "" "likely pathogenic (recessive)" ""
"0000779818" "0" "70" "1" "94577082" "94577082" "subst" "2.84315E-5" "01695" "ABCA4_000232" "g.94577082C>T" "3, 121252, 0, 0.00002474" "{PMID:Goetz 2020:32893963}" "" "c.214G>A, p.Gly72Arg Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94111526C>T" "" "likely pathogenic (recessive)" ""
"0000779819" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Goetz 2020:32893963}" "" "c.2588G>C, p.Gly863Ala Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000779820" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Goetz 2020:32893963}" "" "c.5882G>A, p.Gly1961Glu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000779821" "0" "70" "1" "94495024" "94495024" "subst" "0" "01695" "ABCA4_001804" "g.94495024C>T" "" "{PMID:Goetz 2020:32893963}" "" "c.4516G>A, p.Ala1506Thr Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94029468C>T" "" "likely pathogenic (recessive)" ""
"0000779822" "0" "70" "1" "94486895" "94486895" "subst" "3.24923E-5" "01695" "ABCA4_000484" "g.94486895C>T" "7, 121398, 0, 0.00005766" "{PMID:Goetz 2020:32893963}" "" "c.4919G>A, p.Arg1640Gln heterozygous" "" "Unknown" "" "" "0" "" "" "g.94021339C>T" "" "likely pathogenic (recessive)" ""
"0000779823" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Goetz 2020:32893963}" "" "c.5882G>A, p.Gly1961Glu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000779824" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "24, 119274, 0, 0.0002012" "{PMID:Goetz 2020:32893963}" "" "c.4139C>T, p.Pro1380Leu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000779825" "0" "70" "1" "94546118" "94546118" "subst" "8.13326E-6" "01695" "ABCA4_000082" "g.94546118A>C" "" "{PMID:Goetz 2020:32893963}" "" "c.1015T>G, p.Trp339Gly Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94080562A>C" "" "likely pathogenic (recessive)" ""
"0000779826" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "24, 119274, 0, 0.0002012" "{PMID:Goetz 2020:32893963}" "" "c.4139C>T, p.Pro1380Leu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000779827" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Goetz 2020:32893963}" "" "c.5882G>A, p.Gly1961Glu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000779828" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Goetz 2020:32893963}" "" "c.5882G>A, p.Gly1961Glu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000779829" "0" "70" "1" "94564500" "94564500" "subst" "0.00100414" "01695" "ABCA4_000069" "g.94564500G>C" "162, 118200, 0, 0.001371" "{PMID:Goetz 2020:32893963}" "" "c.618C>G, p.Ser206Arg Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94098944G>C" "" "likely pathogenic (recessive)" ""
"0000779830" "0" "90" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "227, 121250, 3, 0.001872" "{PMID:Goetz 2020:32893963}" "" "c.6320G>A, p.Arg2107His Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94001068C>T" "" "pathogenic (recessive)" ""
"0000779831" "3" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "5406, 121330, 156, 0.04456" "{PMID:Goetz 2020:32893963}" "" "c.5603A>T, p.Asp.Asn1868Ile Homozygous" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000779832" "0" "70" "1" "94471154" "94471154" "subst" "0.156733" "01695" "ABCA4_000881" "g.94471154C>T" "" "{PMID:Goetz 2020:32893963}" "" "c.IVS43-16G>A, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94005598C>T" "" "likely pathogenic (recessive)" ""
"0000779833" "0" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "12, 60116, 0, 0.0001996" "{PMID:Goetz 2020:32893963}" "" "c.4469G>A, p.Cys1490Tyr Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94029515C>T" "" "likely pathogenic (recessive)" ""
"0000779834" "0" "30" "1" "94496602" "94496602" "subst" "0.0234538" "01695" "ABCA4_000913" "g.94496602G>T" "2957, 120728, 46, 0.02449" "{PMID:Goetz 2020:32893963}" "" "c.4203C>A, p.Pro1401Pro Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94031046G>T" "" "likely benign" ""
"0000779835" "0" "70" "1" "94495002" "94495002" "subst" "0" "01695" "ABCA4_000533" "g.94495002T>C" "" "{PMID:Goetz 2020:32893963}" "" "c.4538A>G, p.Gln1513Arg Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94029446T>C" "" "likely pathogenic (recessive)" ""
"0000779836" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "14, 121282, 0, 0.0001154" "{PMID:Goetz 2020:32893963}" "" "c.3322C>T, p.Arg1108Cys Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000779837" "0" "90" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "227, 121250, 3, 0.001872" "{PMID:Goetz 2020:32893963}" "" "c.6320G>A, p.Arg2107His Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94001068C>T" "" "pathogenic (recessive)" ""
"0000779838" "0" "50" "1" "94517234" "94517234" "subst" "0" "01695" "ABCA4_000073" "g.94517234G>A" "" "{PMID:Goetz 2020:32893963}" "" "c.2608C>T, p.Pro870Ser Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94051678G>A" "" "VUS" ""
"0000779839" "0" "70" "1" "94481322" "94481330" "del" "0" "01695" "ABCA4_000453" "g.94481322_94481330del" "" "{PMID:Goetz 2020:32893963}" "" "c.5281_5289delCCTGCCCTT, p.Pro1761_Leu1763del Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94015766_94015774del" "" "likely pathogenic (recessive)" ""
"0000779840" "0" "50" "1" "94471025" "94471025" "subst" "0.00031698" "01695" "ABCA4_000096" "g.94471025C>T" "41, 121396, 0, 0.0003377" "{PMID:Goetz 2020:32893963}" "" "c.6119G>A, p.Arg2040Gln Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94005469C>T" "" "VUS" ""
"0000779841" "0" "70" "1" "94506838" "94506838" "subst" "1.21827E-5" "01695" "ABCA4_000616" "g.94506838C>T" "3, 121394, 0, 0.00002471" "{PMID:Goetz 2020:32893963}" "" "c.3449G>A, p.Cys1150Tyr Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94041282C>T" "" "likely pathogenic (recessive)" ""
"0000779842" "0" "50" "1" "94476377" "94476377" "subst" "0.00160473" "01695" "ABCA4_000411" "g.94476377C>T" "216, 121058, 1, 0.001784" "{PMID:Goetz 2020:32893963}" "" "c.5693G>A, p.Arg1898His Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94010821C>T" "" "VUS" ""
"0000779843" "0" "90" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "227, 121250, 3, 0.001872" "{PMID:Goetz 2020:32893963}" "" "c.6320G>A, p.Arg2107His Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94001068C>T" "" "pathogenic (recessive)" ""
"0000779844" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Goetz 2020:32893963}" "" "c.5882G>A, p.Gly1961Glu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000779845" "0" "90" "1" "94466625" "94466625" "subst" "1.62559E-5" "01695" "ABCA4_000839" "g.94466625G>A" "2, 121244, 0, 0.0000165" "{PMID:Goetz 2020:32893963}" "" "c.6319C>T, p.Arg2107Cys Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94001069G>A" "" "pathogenic (recessive)" ""
"0000779846" "0" "50" "1" "94502756" "94502756" "subst" "0.000422575" "01695" "ABCA4_000032" "g.94502756G>A" "37, 121234, 1, 0.0003052" "{PMID:Goetz 2020:32893963}" "" "c.3758C>T, p.Thr1253Met Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94037200G>A" "" "VUS" ""
"0000779847" "3" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Goetz 2020:32893963}" "" "c.5882G>A, p.Gly1961Glu Homozygous" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000779848" "0" "70" "1" "94586570" "94586570" "subst" "4.06101E-6" "01695" "ABCA4_000154" "g.94586570A>G" "1, 121404, 0, 0.000008237" "{PMID:Goetz 2020:32893963}" "" "c.32T>C, p.Leu11Pro Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94121014A>G" "" "likely pathogenic (recessive)" ""
"0000779849" "0" "70" "1" "94490567" "94490567" "subst" "5.68528E-5" "01695" "ABCA4_000026" "g.94490567G>A" "4, 121406, 0, 0.00003295" "{PMID:Goetz 2020:32893963}" "" "c.4577C>T, p.Thr1526Met Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94025011G>A" "" "likely pathogenic (recessive)" ""
"0000779850" "0" "10" "1" "94497563" "94497563" "subst" "0.00492504" "01695" "ABCA4_000090" "g.94497563C>T" "757, 118654, 27, 0.00638" "{PMID:Goetz 2020:32893963}" "" "c.3899G>A, p.(Arg1300Gln) Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94032007C>T" "" "benign" ""
"0000779851" "0" "70" "1" "94577010" "94577010" "subst" "4.06679E-6" "01695" "ABCA4_000225" "g.94577010T>G" "" "{PMID:Goetz 2020:32893963}" "" "c.286A>C, p.Asn96His Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94111454T>G" "" "likely pathogenic (recessive)" ""
"0000779852" "0" "50" "1" "94520768" "94520768" "subst" "0.00016668" "01695" "ABCA4_000721" "g.94520768G>A" "16, 121382, 0, 0.0001318" "{PMID:Goetz 2020:32893963}" "" "c.2486C>T, p.(Thr829Met) Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94055212G>A" "" "VUS" ""
"0000779853" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Goetz 2020:32893963}" "" "c.5882G>A, p.Gly1961Glu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000779854" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Goetz 2020:32893963}" "" "c.5461-10T>C, heterozygous" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000779855" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "5406, 121330, 156, 0.04456" "{PMID:Goetz 2020:32893963}" "" "c.5603A>T, p.Asp.Asn1868Ile Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000779856" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Goetz 2020:32893963}" "" "c.5461-10T>C, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000779857" "0" "70" "1" "94577135" "94577135" "subst" "2.43718E-5" "01695" "ABCA4_000240" "g.94577135C>T" "2, 121210, 0, 0.0000165" "{PMID:Goetz 2020:32893963}" "" "c.161G>A, p.Cys54Tyr Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94111579C>T" "" "likely pathogenic (recessive)" ""
"0000779858" "0" "90" "1" "94510253" "94510253" "subst" "0.000247694" "01695" "ABCA4_000108" "g.94510253A>G" "36, 121412, 0, 0.0002965" "{PMID:Goetz 2020:32893963}" "" "c.2966T>C, p.Val989la Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94044697A>G" "" "pathogenic (recessive)" ""
"0000779859" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "5406, 121330, 156, 0.04456" "{PMID:Goetz 2020:32893963}" "" "c.5603A>T, p.Asp.Asn1868Ile Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000779860" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Goetz 2020:32893963}" "" "c.5461-10T>C, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000779861" "0" "70" "1" "94471154" "94471154" "subst" "0.156733" "01695" "ABCA4_000881" "g.94471154C>T" "" "{PMID:Goetz 2020:32893963}" "" "c.IVS43-16G>A, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94005598C>T" "" "likely pathogenic (recessive)" ""
"0000779862" "0" "30" "1" "94496602" "94496602" "subst" "0.0234538" "01695" "ABCA4_000913" "g.94496602G>T" "2957, 120728, 46, 0.02449" "{PMID:Goetz 2020:32893963}" "" "c.4203C>A, p.Pro1401Pro Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94031046G>T" "" "likely benign" ""
"0000779863" "0" "30" "1" "94496602" "94496602" "subst" "0.0234538" "01695" "ABCA4_000913" "g.94496602G>T" "2957, 120728, 46, 0.02449" "{PMID:Goetz 2020:32893963}" "" "c.4203C>A, p.(Pro1401=) Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94031046G>T" "" "likely benign" ""
"0000779864" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Goetz 2020:32893963}" "" "c.2588G>C, p.(Gly863Ala) Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000779865" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Goetz 2020:32893963}" "" "c.5882G>A, p.(Gly1961Glu) Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000779866" "0" "30" "1" "94496602" "94496602" "subst" "0.0234538" "01695" "ABCA4_000913" "g.94496602G>T" "2957, 120728, 46, 0.02449" "{PMID:Goetz 2020:32893963}" "" "c.4203C>A, p.Pro1401Pro Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94031046G>T" "" "likely benign" ""
"0000779867" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Goetz 2020:32893963}" "" "c.5461-10T>C, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000779868" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "6, 119038, 0, 0.0000504" "{PMID:Goetz 2020:32893963}" "" "c.1804C>T, p.Arg602Trp Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94062710G>A" "" "pathogenic (recessive)" ""
"0000779869" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "15, 121412, 0, 0.0001235" "{PMID:Goetz 2020:32893963}" "" "c.1622T>C, p.Leu541Pro Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000779870" "0" "30" "1" "94496602" "94496602" "subst" "0.0234538" "01695" "ABCA4_000913" "g.94496602G>T" "2957, 120728, 46, 0.02449" "{PMID:Goetz 2020:32893963}" "" "c.4203C>A, p.Pro1401Pro Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94031046G>T" "" "likely benign" ""
"0000779871" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "5406, 121330, 156, 0.04456" "{PMID:Goetz 2020:32893963}" "" "c.5603A>T, p.Asp.Asn1868Ile Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000779872" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "15, 121412, 0, 0.0001235" "{PMID:Goetz 2020:32893963}" "" "c.1622T>C, p.Leu541Pro Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000779873" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Goetz 2020:32893963}" "" "c.5882G>A, p.Gly1961Glu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000779874" "0" "70" "1" "94522186" "94522186" "subst" "0.000130165" "01695" "ABCA4_002037" "g.94522186G>C" "" "{PMID:Goetz 2020:32893963}" "" "c.2353C>G, p.Arg785Gly Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94056630G>C" "" "likely pathogenic (recessive)" ""
"0000779875" "0" "70" "1" "94474318" "94474318" "subst" "3.24855E-5" "01695" "ABCA4_001652" "g.94474318C>G" "" "{PMID:Goetz 2020:32893963}" "" "c.5824G>C, p.Glu1942Gln Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94008762C>G" "" "likely pathogenic (recessive)" ""
"0000779876" "0" "70" "1" "94520801" "94520801" "subst" "0.000211489" "01695" "ABCA4_000724" "g.94520801C>T" "24, 121324, 0, 0.0001978" "{PMID:Goetz 2020:32893963}" "" "c.2453G>A, p.Gly818Glu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94055245C>T" "" "likely pathogenic (recessive)" ""
"0000779877" "0" "70" "1" "94471055" "94471055" "subst" "0.00035346" "01695" "ABCA4_000029" "g.94471055C>T" "47, 121404, 1, 0.0003871" "{PMID:Goetz 2020:32893963}" "" "c.6089G>A, p.Arg2030Gln Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94005499C>T" "" "likely pathogenic (recessive)" ""
"0000779878" "0" "70" "1" "94485275" "94485275" "subst" "4.09068E-5" "01695" "ABCA4_001089" "g.94485275T>A" "" "{PMID:Goetz 2020:32893963}" "" "c.5059A>T, p.Ile1687Phe heterozygous" "" "Unknown" "" "" "0" "" "" "g.94019719T>A" "" "likely pathogenic (recessive)" ""
"0000779879" "0" "90" "1" "94520690" "94520690" "subst" "2.03102E-5" "01695" "ABCA4_000149" "g.94520690C>T" "4, 121342, 0, 0.00003296" "{PMID:Goetz 2020:32893963}" "" "c.2564G>A, p.Trp855Ter heterozygous" "" "Unknown" "" "" "0" "" "" "g.94055134C>T" "" "pathogenic (recessive)" ""
"0000779880" "0" "70" "1" "94510178" "94510178" "subst" "0" "01695" "ABCA4_000664" "g.94510178A>C" "" "{PMID:Goetz 2020:32893963}" "" "c.3041T>G, p.Leu1014Arg Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94044622A>C" "" "likely pathogenic (recessive)" ""
"0000779881" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Goetz 2020:32893963}" "" "c.5882G>A, p.Gly1961Glu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000779882" "0" "90" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "14, 120056, 0, 0.0001166" "{PMID:Goetz 2020:32893963}" "" "c.634C>T, p.Arg212Cys Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94098928G>A" "" "pathogenic (recessive)" ""
"0000779883" "0" "70" "1" "94546099" "94546099" "subst" "0" "01695" "ABCA4_001389" "g.94546099T>C" "" "{PMID:Goetz 2020:32893963}" "" "c.1034A>G, p.Tyr345Cys Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94080543T>C" "" "likely pathogenic (recessive)" ""
"0000779884" "0" "90" "1" "94485137" "94485137" "subst" "0" "01695" "ABCA4_000464" "g.94485137C>T" "3, 49858, 0, 0.00006017" "{PMID:Goetz 2020:32893963}" "" "c.5196+1G>A, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94019581C>T" "" "pathogenic (recessive)" ""
"0000779885" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "42, 120772, 0, 0.0003478" "{PMID:Goetz 2020:32893963}" "" "c.IVS40+5G>A, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000779886" "0" "50" "1" "94502756" "94502756" "subst" "0.000422575" "01695" "ABCA4_000032" "g.94502756G>A" "37, 121234, 1, 0.0003052" "{PMID:Goetz 2020:32893963}" "" "c.3758C>T, p.Thr1253Met Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94037200G>A" "" "VUS" ""
"0000779887" "0" "90" "1" "94526296" "94526296" "subst" "1.64555E-5" "01695" "ABCA4_000768" "g.94526296G>A" "1, 96614, 0, 0.00001035" "{PMID:Goetz 2020:32893963}" "" "c.1957C>T, p.Arg653Cys Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94060740G>A" "" "pathogenic (recessive)" ""
"0000779888" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Goetz 2020:32893963}" "" "c.5461-10T>C, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000779889" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "5406, 121330, 156, 0.04456" "{PMID:Goetz 2020:32893963}" "" "c.5603A>T, p.Asp.Asn1868Ile Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000779890" "0" "50" "1" "94476940" "94476940" "subst" "5.28894E-5" "01695" "ABCA4_001690" "g.94476940G>A" "" "{PMID:Goetz 2020:32893963}" "" "c.5462C>T, p.Thr1821Met heterozygous" "" "Unknown" "" "" "0" "" "" "g.94011384G>A" "" "VUS" ""
"0000779891" "0" "70" "1" "94484001" "94484001" "subst" "0" "01695" "ABCA4_000016" "g.94484001C>T" "" "{PMID:Goetz 2020:32893963}" "" "c.5196+1137G>A, Intronic Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94018445C>T" "" "likely pathogenic (recessive)" ""
"0000779892" "0" "70" "1" "94467475" "94467475" "subst" "3.65542E-5" "01695" "ABCA4_000171" "g.94467475C>A" "" "{PMID:Goetz 2020:32893963}" "" "c.6221G>T, p.Gly2074Val Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94001919C>A" "" "likely pathogenic (recessive)" ""
"0000779893" "0" "90" "1" "94514477" "94514477" "del" "0" "01695" "ABCA4_001996" "g.94514477del" "" "{PMID:Goetz 2020:32893963}" "" "c.2691delC, p.Glu898SerfsX3 Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94048921del" "" "pathogenic (recessive)" ""
"0000779894" "0" "90" "1" "94485137" "94485137" "subst" "0" "01695" "ABCA4_000464" "g.94485137C>T" "3, 49858, 0, 0.00006017" "{PMID:Goetz 2020:32893963}" "" "c.5196+1G>A, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94019581C>T" "" "pathogenic (recessive)" ""
"0000779895" "0" "70" "1" "94543269" "94543269" "subst" "0.000179087" "01695" "ABCA4_000307" "g.94543269G>A" "26, 120500, 0, 0.0002158" "{PMID:Goetz 2020:32893963}" "" "c.1531C>T, p.Arg511Cys Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94077713G>A" "" "likely pathogenic (recessive)" ""
"0000779896" "0" "90" "1" "94466658" "94466658" "subst" "8.14817E-6" "01695" "ABCA4_000132" "g.94466658C>T" "1, 120798, 0, 0.000008278" "{PMID:Goetz 2020:32893963}" "" "c.6286G>A, p.Glu2096Lys heterozygous" "" "Unknown" "" "" "0" "" "" "g.94001102C>T" "" "pathogenic (recessive)" ""
"0000779897" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "5406, 121330, 156, 0.04456" "{PMID:Goetz 2020:32893963}" "" "c.5603A>T, p.Asp.Asn1868Ile Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000779898" "0" "30" "1" "94496602" "94496602" "subst" "0.0234538" "01695" "ABCA4_000913" "g.94496602G>T" "2957, 120728, 46, 0.02449" "{PMID:Goetz 2020:32893963}" "" "c.4203C>A, p.Pro1401Pro Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94031046G>T" "" "likely benign" ""
"0000779899" "0" "90" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "14, 120056, 0, 0.0001166" "{PMID:Goetz 2020:32893963}" "" "c.634C>T, p.Arg212Cys Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94098928G>A" "" "pathogenic (recessive)" ""
"0000779900" "0" "70" "1" "94586582" "94586582" "subst" "0" "01695" "ABCA4_002254" "g.94586582A>T" "" "{PMID:Goetz 2020:32893963}" "" "c.20T>A, p.Ile7Lys Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94121026A>T" "" "likely pathogenic (recessive)" ""
"0000779901" "0" "90" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "14, 120056, 0, 0.0001166" "{PMID:Goetz 2020:32893963}" "" "634C>T, p.Arg212Cys Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94098928G>A" "" "pathogenic (recessive)" ""
"0000779902" "0" "70" "1" "94490519" "94490519" "subst" "1.2183E-5" "01695" "ABCA4_001783" "g.94490519A>G" "" "{PMID:Goetz 2020:32893963}" "" "c.4625T>C, p.Ile1542Thr Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94024963A>G" "" "likely pathogenic (recessive)" ""
"0000779903" "0" "90" "1" "94586599" "94586599" "subst" "0" "01695" "ABCA4_002256" "g.94586599C>A" "" "{PMID:Goetz 2020:32893963}" "" "c.3G>T, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94121043C>A" "" "pathogenic (recessive)" ""
"0000779904" "0" "70" "1" "94528143" "94528143" "subst" "0.00124448" "01695" "ABCA4_000076" "g.94528143C>T" "196, 121108, 1, 0.001618" "{PMID:Goetz 2020:32893963}" "" "c.1927G>A, p.Val643Met Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94062587C>T" "" "likely pathogenic (recessive)" ""
"0000779905" "0" "70" "1" "94466602" "94466602" "subst" "1.62472E-5" "01695" "ABCA4_000035" "g.94466602C>T" "1, 121354, 0, 0.00000824" "{PMID:Goetz 2020:32893963}" "" "c.6342G>A, p.Val2114Val Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94001046C>T" "" "likely pathogenic (recessive)" ""
"0000779906" "0" "90" "1" "94508386" "94508386" "subst" "1.62443E-5" "01695" "ABCA4_000642" "g.94508386C>T" "4, 121376, 0, 0.00003296" "{PMID:Goetz 2020:32893963}" "" "c.3259G>A, p.Glu1087Lys Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94042830C>T" "" "pathogenic (recessive)" ""
"0000779907" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Goetz 2020:32893963}" "" "c.5882G>A, p.Gly1961Glu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000779908" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Goetz 2020:32893963}" "" "c.5882G>A, p.Gly1961Glu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000779909" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "15, 121412, 0, 0.0001235" "{PMID:Goetz 2020:32893963}" "" "c.1622T>C, p.Leu541Pro Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000779910" "0" "50" "1" "94485148" "94485148" "subst" "4.27562E-6" "01695" "ABCA4_000099" "g.94485148A>G" "" "{PMID:Goetz 2020:32893963}" "" "c.5186T>C, p.Leu1729Pro Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94019592A>G" "" "VUS" ""
"0000779911" "0" "30" "1" "94506819" "94506819" "subst" "0.000105583" "01695" "ABCA4_001897" "g.94506819G>A" "" "{PMID:Goetz 2020:32893963}" "" "c.3468C>T, p.Tyr1156Tyr Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94041263G>A" "" "likely benign" ""
"0000779912" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "24, 119274, 0, 0.0002012" "{PMID:Goetz 2020:32893963}" "" "c.4139C>T, p.Pro1380Leu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000779913" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Goetz 2020:32893963}" "" "c.5882G>A, p.Gly1961Glu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000779914" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Goetz 2020:32893963}" "" "c.5882G>A, p.Gly1961Glu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000779915" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "173, 121304, 0, 0.001426" "{PMID:Goetz 2020:32893963}" "" "c.3113C>T, p.A1038V heterozygous" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000779916" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "42, 120772, 0, 0.0003478" "{PMID:Goetz 2020:32893963}" "" "c.5714+5G>A, heterozygous" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000779917" "0" "70" "1" "94577002" "94577002" "subst" "7.32398E-5" "01695" "ABCA4_000987" "g.94577002G>C" "" "{PMID:Goetz 2020:32893963}" "" "c.294C>G, p.Asn98Lys Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94111446G>C" "" "likely pathogenic (recessive)" ""
"0000779918" "0" "70" "1" "94528819" "94528819" "subst" "2.03128E-5" "01695" "ABCA4_000078" "g.94528819G>A" "2, 121412, 0, 0.00001647" "{PMID:Goetz 2020:32893963}" "" "c.1609C>T, p.Arg537Cys Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94063263G>A" "" "likely pathogenic (recessive)" ""
"0000779919" "0" "70" "1" "94546207" "94546207" "subst" "0.000101665" "01695" "ABCA4_000083" "g.94546207G>C" "16, 121336, 0, 0.0001319" "{PMID:Goetz 2020:32893963}" "" "c.926C>G, p.Pro309rg Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94080651G>C" "" "likely pathogenic (recessive)" ""
"0000779920" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "30, 121388, 0, 0.0002471" "{PMID:Goetz 2020:32893963}" "" "c.3386G>T, p.Arg1129Leu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000779921" "3" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "5406, 121330, 156, 0.04456" "{PMID:Goetz 2020:32893963}" "" "c.5603A>T, p.Asp.Asn1868Ile Homozygous" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000779922" "3" "30" "1" "94496602" "94496602" "subst" "0.0234538" "01695" "ABCA4_000913" "g.94496602G>T" "2957, 120728, 46, 0.02449" "{PMID:Goetz 2020:32893963}" "" "c.4203C>A, p.Pro1401Pro Homozygous" "" "Unknown" "" "" "0" "" "" "g.94031046G>T" "" "likely benign" ""
"0000779923" "3" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "5406, 121330, 156, 0.04456" "{PMID:Goetz 2020:32893963}" "" "c.5603A>T, p.Asp.Asn1868Ile Homozygous" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000779924" "3" "30" "1" "94496602" "94496602" "subst" "0.0234538" "01695" "ABCA4_000913" "g.94496602G>T" "2957, 120728, 46, 0.02449" "{PMID:Goetz 2020:32893963}" "" "c.4203C>A, p.Pro1401Pro Homozygous" "" "Unknown" "" "" "0" "" "" "g.94031046G>T" "" "likely benign" ""
"0000779925" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Goetz 2020:32893963}" "" "c.5461-10T>C, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000779926" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Goetz 2020:32893963}" "" "c.2588G>C, p.Gly863Ala Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000779927" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "5406, 121330, 156, 0.04456" "{PMID:Goetz 2020:32893963}" "" "c.5603A>T, p.Asp.Asn1868Ile Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000779928" "0" "90" "1" "94480243" "94480243" "subst" "4.06124E-6" "01695" "ABCA4_000448" "g.94480243C>T" "1, 121408, 0, 0.000008237" "{PMID:Goetz 2020:32893963}" "" "c.5316G>A, p.Trp1772Ter Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94014687C>T" "" "pathogenic (recessive)" ""
"0000779929" "0" "50" "1" "94564462" "94564462" "subst" "4.06775E-5" "01695" "ABCA4_000380" "g.94564462C>G" "5, 120978, 0, 0.00004133" "{PMID:Goetz 2020:32893963}" "" "c.656G>C, p.Arg219Thr Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94098906C>G" "" "VUS" ""
"0000779930" "0" "50" "1" "94495008" "94495008" "subst" "0" "01695" "ABCA4_000055" "g.94495008G>C" "" "{PMID:Goetz 2020:32893963}" "" "c.4532C>G, p.Pro1511Arg Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94029452G>C" "" "VUS" ""
"0000779931" "0" "50" "1" "94568675" "94568675" "subst" "0.00146249" "01695" "ABCA4_000210" "g.94568675T>C" "159, 120956, 0, 0.001315" "{PMID:Goetz 2020:32893963}" "" "c.466A>G, p.Ile156Val Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94103119T>C" "" "VUS" ""
"0000779932" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Goetz 2020:32893963}" "" "c.5461-10T>C, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000779933" "0" "10" "1" "94505604" "94505604" "subst" "0.00645586" "01695" "ABCA4_000092" "g.94505604A>C" "879, 64452, 44, 0.01364" "{PMID:Goetz 2020:32893963}" "" "c.3602T>G, p.Leu1201Arg Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94040048A>C" "" "benign" ""
"0000779934" "3" "70" "1" "94471154" "94471154" "subst" "0.156733" "01695" "ABCA4_000881" "g.94471154C>T" "" "{PMID:Goetz 2020:32893963}" "" "c.IVS43-16G>A, Homozygous" "" "Unknown" "" "" "0" "" "" "g.94005598C>T" "" "likely pathogenic (recessive)" ""
"0000779935" "0" "70" "1" "94528713" "94528713" "subst" "4.87381E-5" "01695" "ABCA4_000072" "g.94528713C>T" "6, 121412, 0, 0.00004942" "{PMID:Goetz 2020:32893963}" "" "c.1715G>A, p.Arg572Gln Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94063157C>T" "" "likely pathogenic (recessive)" ""
"0000779936" "0" "90" "1" "94471056" "94471056" "subst" "2.84398E-5" "01695" "ABCA4_000050" "g.94471056G>A" "3, 121402, 0, 0.00002471" "{PMID:Goetz 2020:32893963}" "" "c.6088C>T, p.Arg2030Ter Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94005500G>A" "" "pathogenic (recessive)" ""
"0000779937" "0" "50" "1" "94471025" "94471025" "subst" "0.00031698" "01695" "ABCA4_000096" "g.94471025C>T" "41, 121396, 0, 0.0003377" "{PMID:Goetz 2020:32893963}" "" "c.6119G>A, p.Arg2040Gln Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94005469C>T" "" "VUS" ""
"0000779938" "0" "70" "1" "94578618" "94578618" "subst" "0.000166918" "01695" "ABCA4_000252" "g.94578618C>T" "23, 120444, 0, 0.000191" "{PMID:Goetz 2020:32893963}" "" "c.71G>A, p.Arg24His Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94113062C>T" "" "likely pathogenic (recessive)" ""
"0000779939" "0" "70" "1" "94528819" "94528819" "subst" "2.03128E-5" "01695" "ABCA4_000078" "g.94528819G>A" "2, 121412, 0, 0.00001647" "{PMID:Goetz 2020:32893963}" "" "c.1609C>T, p.Arg537Cys Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94063263G>A" "" "likely pathogenic (recessive)" ""
"0000779940" "0" "70" "1" "94577002" "94577002" "subst" "7.32398E-5" "01695" "ABCA4_000987" "g.94577002G>C" "" "{PMID:Goetz 2020:32893963}" "" "c.294C>G, p.Asn98Lys Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94111446G>C" "" "likely pathogenic (recessive)" ""
"0000779941" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Goetz 2020:32893963}" "" "c.5882G>A, p.Gly1961Glu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000779942" "0" "90" "1" "94473790" "94473790" "subst" "0" "01695" "ABCA4_000399" "g.94473790C>T" "" "{PMID:Goetz 2020:32893963}" "" "c.IVS42+1G>A, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94008234C>T" "" "pathogenic (recessive)" ""
"0000779943" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "14, 121282, 0, 0.0001154" "{PMID:Goetz 2020:32893963}" "" "c.3322C>T, p.Arg1108Cys Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000779944" "0" "30" "1" "94496602" "94496602" "subst" "0.0234538" "01695" "ABCA4_000913" "g.94496602G>T" "2957, 120728, 46, 0.02449" "{PMID:Goetz 2020:32893963}" "" "c.4203C>A, p.Pro1401Pro Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94031046G>T" "" "likely benign" ""
"0000779945" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "5406, 121330, 156, 0.04456" "{PMID:Goetz 2020:32893963}" "" "c.5603A>T, p.Asp.Asn1868Ile Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000779946" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "14, 121282, 0, 0.0001154" "{PMID:Goetz 2020:32893963}" "" "c.3322C>T, p.Arg1108Cys Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000779947" "0" "90" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "14, 120056, 0, 0.0001166" "{PMID:Goetz 2020:32893963}" "" "c.634C>T, p.Arg212Cys Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94098928G>A" "" "pathogenic (recessive)" ""
"0000779948" "0" "90" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "227, 121250, 3, 0.001872" "{PMID:Goetz 2020:32893963}" "" "c.6320G>A, p.Arg2107His Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94001068C>T" "" "pathogenic (recessive)" ""
"0000779949" "0" "70" "1" "94546207" "94546207" "subst" "0.000101665" "01695" "ABCA4_000083" "g.94546207G>C" "16, 121336, 0, 0.0001319" "{PMID:Goetz 2020:32893963}" "" "c.926C>G, p.Pro309rg Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94080651G>C" "" "likely pathogenic (recessive)" ""
"0000779950" "0" "70" "1" "94509027" "94509027" "subst" "4.06478E-6" "01695" "ABCA4_000661" "g.94509027T>C" "" "{PMID:Goetz 2020:32893963}" "" "c.3055A>G, p.Thr1019la Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94043471T>C" "" "likely pathogenic (recessive)" ""
"0000779951" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Goetz 2020:32893963}" "" "c.5882G>A, p.Gly1961Glu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000779952" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Goetz 2020:32893963}" "" "c.2588G>C, p.Gly863Ala Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000779953" "0" "90" "1" "94473790" "94473790" "subst" "0" "01695" "ABCA4_000399" "g.94473790C>T" "" "{PMID:Goetz 2020:32893963}" "" "c.IVS42+1G>A, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94008234C>T" "" "pathogenic (recessive)" ""
"0000779954" "0" "70" "1" "94486896" "94486896" "subst" "3.65562E-5" "01695" "ABCA4_000085" "g.94486896G>A" "1, 121394, 0, 0.000008238" "{PMID:Goetz 2020:32893963}" "" "c.4918C>T, p.Arg1640Trp Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94021340G>A" "" "likely pathogenic (recessive)" ""
"0000779955" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Goetz 2020:32893963}" "" "c.5882G>A, p.Gly1961Glu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000779956" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "42, 120772, 0, 0.0003478" "{PMID:Goetz 2020:32893963}" "" "c.5714+5G>A, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000779957" "0" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "12, 60116, 0, 0.0001996" "{PMID:Goetz 2020:32893963}" "" "c.4469G>A, p.Cys1490Tyr Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94029515C>T" "" "likely pathogenic (recessive)" ""
"0000779958" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "5406, 121330, 156, 0.04456" "{PMID:Goetz 2020:32893963}" "" "c.5603A>T, p.Asp.Asn1868Ile Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000779959" "0" "30" "1" "94496602" "94496602" "subst" "0.0234538" "01695" "ABCA4_000913" "g.94496602G>T" "2957, 120728, 46, 0.02449" "{PMID:Goetz 2020:32893963}" "" "c.4203C>A, p.Pro1401Pro Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94031046G>T" "" "likely benign" ""
"0000779960" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Goetz 2020:32893963}" "" "c.5461-10T>C, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000779961" "0" "90" "1" "94508435" "94508436" "dup" "0" "01695" "ABCA4_000998" "g.94508435_94508436dup" "" "{PMID:Goetz 2020:32893963}" "" "c.3210_3211dup" "" "Unknown" "" "" "0" "" "" "g.94042879_94042880dup" "" "pathogenic (recessive)" ""
"0000779962" "0" "50" "1" "94496610" "94496610" "subst" "2.03128E-5" "01695" "ABCA4_000571" "g.94496610C>T" "2, 120596, 0, 0.00001658" "{PMID:Goetz 2020:32893963}" "" "c.4195G>A, p.Glu1399Lys Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94031054C>T" "" "VUS" ""
"0000779963" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "42, 120772, 0, 0.0003478" "{PMID:Goetz 2020:32893963}" "" "c.5714+5G>A, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000779964" "0" "30" "1" "94496602" "94496602" "subst" "0.0234538" "01695" "ABCA4_000913" "g.94496602G>T" "2957, 120728, 46, 0.02449" "{PMID:Goetz 2020:32893963}" "" "c.4203C>A, p.(Pro1401=) Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94031046G>T" "" "likely benign" ""
"0000779965" "0" "90" "1" "94510248" "94510248" "subst" "0.000544123" "01695" "ABCA4_000107" "g.94510248C>G" "87, 121410, 0, 0.0007166" "{PMID:Goetz 2020:32893963}" "" "c.2971G>C, p.(Gly991Arg) Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94044692C>G" "" "pathogenic (recessive)" ""
"0000779966" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "5406, 121330, 156, 0.04456" "{PMID:Goetz 2020:32893963}" "" "c.5603A>T, p.(Asn1868Ile) Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000779967" "0" "70" "1" "94471154" "94471154" "subst" "0.156733" "01695" "ABCA4_000881" "g.94471154C>T" "" "{PMID:Goetz 2020:32893963}" "" "c.IVS43-16G>A, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94005598C>T" "" "likely pathogenic (recessive)" ""
"0000779968" "0" "70" "1" "94522296" "94522296" "subst" "0" "01695" "ABCA4_000743" "g.94522296C>T" "" "{PMID:Goetz 2020:32893963}" "" "2234G>A, p.Cys748Tyr Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94056740C>T" "" "likely pathogenic (recessive)" ""
"0000779969" "0" "70" "1" "94528683" "94528683" "subst" "2.03095E-5" "01695" "ABCA4_002089" "g.94528683T>C" "2, 121412, 0, 0.00001647" "{PMID:Goetz 2020:32893963}" "" "c.1745A>G, p.Asn582Ser Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94063127T>C" "" "likely pathogenic (recessive)" ""
"0000779970" "0" "70" "1" "94510256" "94510256" "subst" "0" "01695" "ABCA4_001967" "g.94510256A>G" "" "{PMID:Goetz 2020:32893963}" "" "c.2963T>C, p.Leu988Pro Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94044700A>G" "" "likely pathogenic (recessive)" ""
"0000779971" "0" "30" "1" "94496602" "94496602" "subst" "0.0234538" "01695" "ABCA4_000913" "g.94496602G>T" "2957, 120728, 46, 0.02449" "{PMID:Goetz 2020:32893963}" "" "c.4203C>A, p.(Pro1401=) Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94031046G>T" "" "likely benign" ""
"0000779972" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Goetz 2020:32893963}" "" "c.5882G>A, p.Gly1961Glu heterozygous" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000779973" "0" "90" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "227, 121250, 3, 0.001872" "{PMID:Goetz 2020:32893963}" "" "c.6320G>A, p.Arg2107His Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94001068C>T" "" "pathogenic (recessive)" ""
"0000779974" "0" "70" "1" "94578598" "94578598" "subst" "0" "01695" "ABCA4_000251" "g.94578598A>G" "" "{PMID:Goetz 2020:32893963}" "" "c.91T>C, p.Trp31Arg Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94113042A>G" "" "likely pathogenic (recessive)" ""
"0000779975" "0" "90" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "227, 121250, 3, 0.001872" "{PMID:Goetz 2020:32893963}" "" "c.6320G>A, p.Arg2107His Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94001068C>T" "" "pathogenic (recessive)" ""
"0000779976" "0" "70" "1" "94485279" "94485293" "del" "0" "01695" "ABCA4_000476" "g.94485279_94485293del" "" "{PMID:Goetz 2020:32893963}" "" "c.5044_5058del15, p.Val1682_Val1686del Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94019723_94019737del" "" "likely pathogenic (recessive)" ""
"0000779977" "0" "50" "1" "94485257" "94485257" "subst" "0.00017945" "01695" "ABCA4_000100" "g.94485257C>T" "26, 109132, 0, 0.0002382" "{PMID:Goetz 2020:32893963}" "" "c.5077G>A, p.Val1693Ile Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94019701C>T" "" "VUS" ""
"0000779978" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "5406, 121330, 156, 0.04456" "{PMID:Goetz 2020:32893963}" "" "c.5603A>T, p.Asp.Asn1868Ile Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000779979" "0" "90" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "227, 121250, 3, 0.001872" "{PMID:Goetz 2020:32893963}" "" "c.6320G>A, p.Arg2107His Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94001068C>T" "" "pathogenic (recessive)" ""
"0000779980" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Goetz 2020:32893963}" "" "c.2588G>C, p.Gly863Ala Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000779981" "0" "90" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "21, 121302, 0, 0.0001731" "{PMID:Goetz 2020:32893963}" "" "c.2894A>G, p.Asn965Ser Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94046943T>C" "" "pathogenic (recessive)" ""
"0000779982" "0" "30" "1" "94496602" "94496602" "subst" "0.0234538" "01695" "ABCA4_000913" "g.94496602G>T" "2957, 120728, 46, 0.02449" "{PMID:Goetz 2020:32893963}" "" "c.4203C>A, p.Pro1401Pro Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94031046G>T" "" "likely benign" ""
"0000779983" "0" "70" "1" "94543269" "94543269" "subst" "0.000179087" "01695" "ABCA4_000307" "g.94543269G>A" "26, 120500, 0, 0.0002158" "{PMID:Goetz 2020:32893963}" "" "c.1531C>T, p.Arg511Cys Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94077713G>A" "" "likely pathogenic (recessive)" ""
"0000779984" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Goetz 2020:32893963}" "" "c.5461-10T>C, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000779985" "0" "90" "1" "94485137" "94485137" "subst" "0" "01695" "ABCA4_000464" "g.94485137C>T" "3, 49858, 0, 0.00006017" "{PMID:Goetz 2020:32893963}" "" "c.5196+1G>A, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94019581C>T" "" "pathogenic (recessive)" ""
"0000779986" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Goetz 2020:32893963}" "" "c.5461-10T>C, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000779987" "0" "70" "1" "94486895" "94486895" "subst" "3.24923E-5" "01695" "ABCA4_000484" "g.94486895C>T" "7, 121398, 0, 0.00005766" "{PMID:Goetz 2020:32893963}" "" "c.4919G>A, p.Arg1640Gln Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94021339C>T" "" "likely pathogenic (recessive)" ""
"0000779988" "0" "30" "1" "94496602" "94496602" "subst" "0.0234538" "01695" "ABCA4_000913" "g.94496602G>T" "2957, 120728, 46, 0.02449" "{PMID:Goetz 2020:32893963}" "" "c.4203C>A, p.Pro1401Pro Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94031046G>T" "" "likely benign" ""
"0000779989" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Goetz 2020:32893963}" "" "c.2588G>C, p.Gly863Ala Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000779990" "0" "70" "1" "94486889" "94486889" "subst" "0.000995166" "01695" "ABCA4_000895" "g.94486889C>A" "148, 121396, 1, 0.001219" "{PMID:Goetz 2020:32893963}" "" "c.4925G>T, p.Ser1642Ile Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94021333C>A" "" "likely pathogenic (recessive)" ""
"0000779991" "0" "90" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "14, 120056, 0, 0.0001166" "{PMID:Goetz 2020:32893963}" "" "c.634C>T, p.Arg212Cys Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94098928G>A" "" "pathogenic (recessive)" ""
"0000779992" "0" "30" "1" "94496602" "94496602" "subst" "0.0234538" "01695" "ABCA4_000913" "g.94496602G>T" "2957, 120728, 46, 0.02449" "{PMID:Goetz 2020:32893963}" "" "c.4203C>A, p.Pro1401Pro Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94031046G>T" "" "likely benign" ""
"0000779993" "0" "70" "1" "94517233" "94517233" "subst" "4.06161E-6" "01695" "ABCA4_000706" "g.94517233G>A" "1, 120440, 0, 0.000008303" "{PMID:Goetz 2020:32893963}" "" "c.2609C>T, p.Pro870Leu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94051677G>A" "" "likely pathogenic (recessive)" ""
"0000779994" "0" "30" "1" "94496602" "94496602" "subst" "0.0234538" "01695" "ABCA4_000913" "g.94496602G>T" "2957, 120728, 46, 0.02449" "{PMID:Goetz 2020:32893963}" "" "c.4203C>A, p.Pro1401Pro Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94031046G>T" "" "likely benign" ""
"0000779995" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Goetz 2020:32893963}" "" "c.5461-10T>C, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000779996" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "5406, 121330, 156, 0.04456" "{PMID:Goetz 2020:32893963}" "" "c.5603A>T, p.Asp.Asn1868Ile Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000779997" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "5406, 121330, 156, 0.04456" "{PMID:Goetz 2020:32893963}" "" "c.5603A>T, p.Asp.Asn1868Ile Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000779998" "0" "50" "1" "94463648" "94463648" "subst" "0.00109246" "01695" "ABCA4_000876" "g.94463648G>A" "146, 121234, 0, 0.001204" "{PMID:Goetz 2020:32893963}" "" "c.6498C>T, p.Ile2166Ile Heterozygous" "" "Unknown" "" "" "0" "" "" "g.93998092G>A" "" "VUS" ""
"0000779999" "0" "90" "1" "94488942" "94488942" "subst" "0" "01695" "ABCA4_001254" "g.94488942C>T" "" "{PMID:Goetz 2020:32893963}" "" "c.4667G>A, p.Arg1556Lys Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94023386C>T" "" "pathogenic (recessive)" ""
"0000780000" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "15, 121412, 0, 0.0001235" "{PMID:Goetz 2020:32893963}" "" "c.1622T>C, p.Leu541Pro Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000780001" "0" "70" "1" "94490567" "94490567" "subst" "5.68528E-5" "01695" "ABCA4_000026" "g.94490567G>A" "4, 121406, 0, 0.00003295" "{PMID:Goetz 2020:32893963}" "" "c.4577C>T, p.Thr1526Met Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94025011G>A" "" "likely pathogenic (recessive)" ""
"0000780002" "0" "50" "1" "94476377" "94476377" "subst" "0.00160473" "01695" "ABCA4_000411" "g.94476377C>T" "216, 121058, 1, 0.001784" "{PMID:Goetz 2020:32893963}" "" "c.5693 G>A, p.Arg1898His Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94010821C>T" "" "VUS" ""
"0000780003" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Goetz 2020:32893963}" "" "c.2588 G>C, p.Gly863Ala Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000780004" "0" "50" "1" "94543389" "94543389" "subst" "0.000861235" "01695" "ABCA4_000312" "g.94543389C>T" "114, 121404, 0, 0.000939" "{PMID:Goetz 2020:32893963}" "" "c.1411 G>A, p.Glu471Lys Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94077833C>T" "" "VUS" ""
"0000780005" "0" "90" "1" "94543246" "94543246" "subst" "0" "01695" "ABCA4_000010" "g.94543246C>T" "" "{PMID:Goetz 2020:32893963}" "" "c.1554G>A, p.Glu518Glu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94077690C>T" "" "pathogenic (recessive)" ""
"0000780006" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Goetz 2020:32893963}" "" "c.5461-10T>C, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000780007" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "5406, 121330, 156, 0.04456" "{PMID:Goetz 2020:32893963}" "" "c.5603A>T, p.Asp.Asn1868Ile Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000780008" "0" "90" "1" "94508386" "94508386" "subst" "1.62443E-5" "01695" "ABCA4_000642" "g.94508386C>T" "4, 121376, 0, 0.00003296" "{PMID:Goetz 2020:32893963}" "" "c.3259G>A, p.Glu1087Lys Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94042830C>T" "" "pathogenic (recessive)" ""
"0000780009" "0" "90" "1" "94508435" "94508436" "dup" "0" "01695" "ABCA4_000998" "g.94508435_94508436dup" "" "{PMID:Goetz 2020:32893963}" "" "c.3210_3211dup" "" "Unknown" "" "" "0" "" "" "g.94042879_94042880dup" "" "pathogenic (recessive)" ""
"0000780010" "0" "90" "1" "94508435" "94508436" "dup" "0" "01695" "ABCA4_000998" "g.94508435_94508436dup" "" "{PMID:Goetz 2020:32893963}" "" "c.3210_3211dup" "" "Unknown" "" "" "0" "" "" "g.94042879_94042880dup" "" "pathogenic (recessive)" ""
"0000780011" "0" "70" "1" "94474318" "94474318" "subst" "3.24855E-5" "01695" "ABCA4_001652" "g.94474318C>G" "" "{PMID:Goetz 2020:32893963}" "" "c.5824G>C, p.Glu1942Gln Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94008762C>G" "" "likely pathogenic (recessive)" ""
"0000780012" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Goetz 2020:32893963}" "" "c.5882G>A, p.Gly1961Glu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000780013" "0" "90" "1" "94526212" "94526212" "subst" "1.22012E-5" "01695" "ABCA4_000075" "g.94526212G>A" "3, 120836, 0, 0.00002483" "{PMID:Goetz 2020:32893963}" "" "c.2041C>T, p.Arg681Ter Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94060656G>A" "" "pathogenic (recessive)" ""
"0000780014" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Goetz 2020:32893963}" "" "c.5882G>A, p.Gly1961Glu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000780015" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "173, 121304, 0, 0.001426" "{PMID:Goetz 2020:32893963}" "" "c.3113C>T, p.Ala1038Val Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000780016" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "15, 121412, 0, 0.0001235" "{PMID:Goetz 2020:32893963}" "" "c.1622T>C, p.Leu541Pro Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000780017" "0" "70" "1" "94466618" "94466618" "subst" "0" "01695" "ABCA4_001415" "g.94466618A>G" "" "{PMID:Goetz 2020:32893963}" "" "c.6326T>C, p.Leu2109Pro Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94001062A>G" "" "likely pathogenic (recessive)" ""
"0000780018" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Goetz 2020:32893963}" "" "c.2588G>C, p.Gly863Ala Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000780019" "0" "90" "1" "94485137" "94485137" "subst" "0" "01695" "ABCA4_000464" "g.94485137C>T" "3, 49858, 0, 0.00006017" "{PMID:Goetz 2020:32893963}" "" "c.5196+1G>A, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94019581C>T" "" "pathogenic (recessive)" ""
"0000780020" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Goetz 2020:32893963}" "" "c.2588G>C, p.Gly863Ala Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000780021" "0" "70" "1" "94490567" "94490567" "subst" "5.68528E-5" "01695" "ABCA4_000026" "g.94490567G>A" "4, 121406, 0, 0.00003295" "{PMID:Goetz 2020:32893963}" "" "c.4577C>T, p.Thr1526Met Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94025011G>A" "" "likely pathogenic (recessive)" ""
"0000780022" "0" "70" "1" "94466627" "94466627" "subst" "4.06408E-6" "01695" "ABCA4_000867" "g.94466627C>T" "" "{PMID:Goetz 2020:32893963}" "" "c.6317G>A, p.Arg2106His Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94001071C>T" "" "likely pathogenic (recessive)" ""
"0000780023" "0" "70" "1" "94495078" "94495078" "subst" "8.37044E-6" "01695" "ABCA4_000042" "g.94495078A>G" "1, 70400, 0, 0.0000142" "{PMID:Goetz 2020:32893963}" "" "c.4462T>C, p.Cys1488Arg Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94029522A>G" "" "likely pathogenic (recessive)" ""
"0000780024" "0" "90" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "227, 121250, 3, 0.001872" "{PMID:Goetz 2020:32893963}" "" "c.6320G>A, p.Arg2107His Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94001068C>T" "" "pathogenic (recessive)" ""
"0000780025" "0" "90" "1" "94510253" "94510253" "subst" "0.000247694" "01695" "ABCA4_000108" "g.94510253A>G" "36, 121412, 0, 0.0002965" "{PMID:Goetz 2020:32893963}" "" "c.2966T>C, p.Val989la Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94044697A>G" "" "pathogenic (recessive)" ""
"0000780026" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Goetz 2020:32893963}" "" "c.5882G>A, p.Gly1961Glu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000780027" "0" "70" "1" "94578618" "94578618" "subst" "0.000166918" "01695" "ABCA4_000252" "g.94578618C>T" "23, 120444, 0, 0.000191" "{PMID:Goetz 2020:32893963}" "" "c.71G>A, p.Arg24His Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94113062C>T" "" "likely pathogenic (recessive)" ""
"0000780028" "0" "70" "1" "94505659" "94505659" "subst" "0.000942724" "01695" "ABCA4_000921" "g.94505659C>A" "101, 83320, 0, 0.001212" "{PMID:Goetz 2020:32893963}" "" "c.3547G>T, p.Gly1183Cys Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94040103C>A" "" "likely pathogenic (recessive)" ""
"0000780029" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Goetz 2020:32893963}" "" "c.2588G>C, p.Gly863Ala Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000780030" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Goetz 2020:32893963}" "" "c.5461-10T>C, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000780031" "3" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "5406, 121330, 156, 0.04456" "{PMID:Goetz 2020:32893963}" "" "c.5603A>T, p.Asp.Asn1868Ile Homozygous" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000780032" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "5406, 121330, 156, 0.04456" "{PMID:Goetz 2020:32893963}" "" "c.5603A>T, p.Asp.Asn1868Ile Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000780033" "0" "70" "1" "94488979" "94488979" "subst" "0" "01695" "ABCA4_001780" "g.94488979A>G" "" "{PMID:Goetz 2020:32893963}" "" "c.IVS31-5T>C, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94023423A>G" "" "likely pathogenic (recessive)" ""
"0000780034" "0" "90" "1" "94466426" "94466426" "subst" "1.62433E-5" "01695" "ABCA4_000124" "g.94466426G>A" "2, 121400, 0, 0.00001647" "{PMID:Goetz 2020:32893963}" "" "c.6445C>T, p.Arg2149X heterozygous" "" "Unknown" "" "" "0" "" "" "g.94000870G>A" "" "pathogenic (recessive)" ""
"0000780035" "0" "70" "1" "94528143" "94528143" "subst" "0.00124448" "01695" "ABCA4_000076" "g.94528143C>T" "196, 121108, 1, 0.001618" "{PMID:Goetz 2020:32893963}" "" "c.1927G>A, p.Val643Met heterozygous" "" "Unknown" "" "" "0" "" "" "g.94062587C>T" "" "likely pathogenic (recessive)" ""
"0000780036" "0" "50" "1" "94544159" "94544159" "subst" "2.03079E-5" "01695" "ABCA4_000063" "g.94544159A>T" "2, 121412, 0, 0.00001647" "{PMID:Goetz 2020:32893963}" "" "c.1343T>A, p.Met448Lys Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94078603A>T" "" "VUS" ""
"0000780037" "0" "90" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "227, 121250, 3, 0.001872" "{PMID:Goetz 2020:32893963}" "" "c.6320G>A, p.Arg2107His Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94001068C>T" "" "pathogenic (recessive)" ""
"0000780038" "0" "50" "1" "94548928" "94548928" "subst" "0.000382223" "01695" "ABCA4_002162" "g.94548928T>A" "" "{PMID:Goetz 2020:32893963}" "" "c.838A>T, p.Met280Leu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94083372T>A" "" "VUS" ""
"0000780039" "0" "70" "1" "94487402" "94487402" "subst" "0" "01695" "ABCA4_000496" "g.94487402C>G" "" "{PMID:Goetz 2020:32893963}" "" "c.4773G>C, p.Gly1591Gly Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94021846C>G" "" "likely pathogenic (recessive)" ""
"0000780040" "0" "70" "1" "94577135" "94577135" "subst" "2.43718E-5" "01695" "ABCA4_000240" "g.94577135C>T" "2, 121210, 0, 0.0000165" "{PMID:Goetz 2020:32893963}" "" "c.161G>A, p.Cys54Tyr Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94111579C>T" "" "likely pathogenic (recessive)" ""
"0000780041" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Goetz 2020:32893963}" "" "c.5882G>A, p.G1961E Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000780042" "0" "50" "1" "94520708" "94520708" "subst" "0.00102774" "01695" "ABCA4_000074" "g.94520708A>G" "162, 121382, 1, 0.001335" "{PMID:Goetz 2020:32893963}" "" "c.2546T>C, p.Val849la Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94055152A>G" "" "VUS" ""
"0000780043" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "15, 121412, 0, 0.0001235" "{PMID:Goetz 2020:32893963}" "" "c.1622T>C, p.Leu541Pro Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000780044" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "173, 121304, 0, 0.001426" "{PMID:Goetz 2020:32893963}" "" "c.3113C>T, p.Ala1038Val Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000780045" "0" "50" "1" "94493145" "94493145" "dup" "0" "01695" "ABCA4_001799" "g.94493145dup" "" "{PMID:Goetz 2020:32893963}" "" "c.4539+1858dup" "" "Unknown" "" "" "0" "" "" "g.94027589dup" "" "VUS" ""
"0000780046" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Goetz 2020:32893963}" "" "c.2588G>C, p.Gly863Ala Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000780047" "0" "70" "1" "94495083" "94495083" "subst" "0.000124542" "01695" "ABCA4_000542" "g.94495083G>A" "11, 77176, 0, 0.0001425" "{PMID:Goetz 2020:32893963}" "" "c.4457 C>T, p.Pro1486Leu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94029527G>A" "" "likely pathogenic (recessive)" ""
"0000780048" "0" "70" "1" "94577135" "94577135" "subst" "2.43718E-5" "01695" "ABCA4_000240" "g.94577135C>T" "2, 121210, 0, 0.0000165" "{PMID:Goetz 2020:32893963}" "" "c.161G>A, p.Cys54Tyr Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94111579C>T" "" "likely pathogenic (recessive)" ""
"0000780049" "0" "90" "1" "94508435" "94508436" "dup" "0" "01695" "ABCA4_000998" "g.94508435_94508436dup" "" "{PMID:Goetz 2020:32893963}" "" "c.3210_3211dup" "" "Unknown" "" "" "0" "" "" "g.94042879_94042880dup" "" "pathogenic (recessive)" ""
"0000780050" "0" "70" "1" "94495002" "94495002" "subst" "0" "01695" "ABCA4_000533" "g.94495002T>C" "" "{PMID:Goetz 2020:32893963}" "" "c.4538A>G, p.Gln1513Arg Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94029446T>C" "" "likely pathogenic (recessive)" ""
"0000780051" "0" "90" "1" "94486791" "94486791" "subst" "0" "01695" "ABCA4_001253" "g.94486791C>T" "" "{PMID:Goetz 2020:32893963}" "" "c.5018+5G>A, Intronic Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94021235C>T" "" "pathogenic (recessive)" ""
"0000780052" "0" "70" "1" "94520793" "94520793" "subst" "8.13292E-6" "01695" "ABCA4_000723" "g.94520793A>T" "1, 121346, 0, 0.000008241" "{PMID:Goetz 2020:32893963}" "" "c.2461T>A, p.Trp821Arg Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94055237A>T" "" "likely pathogenic (recessive)" ""
"0000780053" "0" "90" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "14, 120056, 0, 0.0001166" "{PMID:Goetz 2020:32893963}" "" "c.634C>T, p.Arg212Cys Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94098928G>A" "" "pathogenic (recessive)" ""
"0000780054" "0" "70" "1" "94463424" "94463424" "subst" "0" "01695" "ABCA4_001562" "g.94463424A>G" "" "{PMID:Goetz 2020:32893963}" "" "c.6722T>C, p.Leu2241Pro Heterozygous" "" "Unknown" "" "" "0" "" "" "g.93997868A>G" "" "likely pathogenic (recessive)" ""
"0000780055" "0" "90" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "21, 121302, 0, 0.0001731" "{PMID:Goetz 2020:32893963}" "" "c.2894A>G, p.Asn965Ser Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94046943T>C" "" "pathogenic (recessive)" ""
"0000780056" "0" "50" "1" "94480146" "94480146" "subst" "2.84273E-5" "01695" "ABCA4_000122" "g.94480146T>C" "2, 121410, 0, 0.00001647" "{PMID:Goetz 2020:32893963}" "" "c.5413A>G, p.Asn1805Asp heterozygous" "" "Unknown" "" "" "0" "" "" "g.94014590T>C" "" "VUS" ""
"0000780057" "0" "90" "1" "94574223" "94574224" "del" "0" "01695" "ABCA4_000215" "g.94574223_94574224del" "" "{PMID:Goetz 2020:32893963}" "" "c.355_356delAG, p.Ser119Profs*41 Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94108667_94108668del" "" "pathogenic (recessive)" ""
"0000780058" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Goetz 2020:32893963}" "" "c.5882G>A, p.Gly1961Glu heterozygous" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000780059" "0" "90" "1" "94586601" "94586601" "subst" "8.12156E-6" "01695" "ABCA4_000264" "g.94586601T>C" "" "{PMID:Goetz 2020:32893963}" "" "c.1A>G, p.Met1Val heterozygous" "" "Unknown" "" "" "0" "" "" "g.94121045T>C" "" "pathogenic (recessive)" ""
"0000780060" "0" "90" "1" "94526212" "94526212" "subst" "1.22012E-5" "01695" "ABCA4_000075" "g.94526212G>A" "3, 120836, 0, 0.00002483" "{PMID:Goetz 2020:32893963}" "" "c.2041C>T, p.Arg681X heterozygous" "" "Unknown" "" "" "0" "" "" "g.94060656G>A" "" "pathogenic (recessive)" ""
"0000780061" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "173, 121304, 0, 0.001426" "{PMID:Goetz 2020:32893963}" "" "c.3113C>T, p.Ala1038Val heterozygous" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000780062" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "13, 121216, 0, 0.0001072" "{PMID:Goetz 2020:32893963}" "" "c.768G>T, p.Val256Val Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000780063" "0" "70" "1" "94486896" "94486896" "subst" "3.65562E-5" "01695" "ABCA4_000085" "g.94486896G>A" "1, 121394, 0, 0.000008238" "{PMID:Goetz 2020:32893963}" "" "c.4918C>T, p.Arg1640Trp Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94021340G>A" "" "likely pathogenic (recessive)" ""
"0000780064" "0" "70" "1" "94496583" "94496583" "subst" "2.03092E-5" "01695" "ABCA4_000190" "g.94496583A>G" "1, 120898, 0, 0.000008271" "{PMID:Goetz 2020:32893963}" "" "c.4222T>C, p.Trp1408Arg Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94031027A>G" "" "likely pathogenic (recessive)" ""
"0000780065" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Goetz 2020:32893963}" "" "c.5882G>A, p.Gly1961Glu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000780066" "0" "70" "1" "94546207" "94546207" "subst" "0.000101665" "01695" "ABCA4_000083" "g.94546207G>C" "16, 121336, 0, 0.0001319" "{PMID:Goetz 2020:32893963}" "" "c.926C>G, p.Pro309rg Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94080651G>C" "" "likely pathogenic (recessive)" ""
"0000780067" "0" "90" "1" "94509026" "94509026" "subst" "4.06497E-5" "01695" "ABCA4_000660" "g.94509026G>A" "5, 120988, 0, 0.00004133" "{PMID:Goetz 2020:32893963}" "" "c.3056C>T, p.Thr1019Met Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94043470G>A" "" "pathogenic (recessive)" ""
"0000780068" "0" "70" "1" "94495078" "94495078" "subst" "8.37044E-6" "01695" "ABCA4_000042" "g.94495078A>G" "1, 70400, 0, 0.0000142" "{PMID:Goetz 2020:32893963}" "" "c.4462T>C, p.Cys1488Arg Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94029522A>G" "" "likely pathogenic (recessive)" ""
"0000780069" "0" "90" "1" "94546248" "94546248" "del" "2.03666E-5" "01695" "ABCA4_000352" "g.94546248del" "" "{PMID:Goetz 2020:32893963}" "" "c.885delC, p.Leu296Cysfs Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94080692del" "" "pathogenic (recessive)" ""
"0000780070" "0" "70" "1" "94544249" "94544249" "subst" "8.12196E-6" "01695" "ABCA4_000323" "g.94544249A>G" "" "{PMID:Goetz 2020:32893963}" "" "c.1253T>C, p.Phe418Ser Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94078693A>G" "" "likely pathogenic (recessive)" ""
"0000780071" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Goetz 2020:32893963}" "" "c.2588G>C, p.Gly863Ala Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000780072" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "26, 121404, 0, 0.0002142" "{PMID:Goetz 2020:32893963}" "" "c.6079C>T, p.Leu2027Phe Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic (recessive)" ""
"0000780073" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "24, 119274, 0, 0.0002012" "{PMID:Goetz 2020:32893963}" "" "c.4139C>T, p.Pro1380Leu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000780074" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Goetz 2020:32893963}" "" "c.5882G>A, p.Gly1961Glu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000780075" "0" "70" "1" "94466602" "94466602" "subst" "1.62472E-5" "01695" "ABCA4_000035" "g.94466602C>T" "1, 121354, 0, 0.00000824" "{PMID:Goetz 2020:32893963}" "" "c.6342G>A, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94001046C>T" "" "likely pathogenic (recessive)" ""
"0000780076" "0" "70" "1" "94490567" "94490567" "subst" "5.68528E-5" "01695" "ABCA4_000026" "g.94490567G>A" "4, 121406, 0, 0.00003295" "{PMID:Goetz 2020:32893963}" "" "c.4577C>T, p.Thr1526Met Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94025011G>A" "" "likely pathogenic (recessive)" ""
"0000780077" "0" "70" "1" "94496017" "94496017" "subst" "4.06075E-6" "01695" "ABCA4_000130" "g.94496017A>G" "" "{PMID:Goetz 2020:32893963}" "" "c.4319T>C, p.F1440S Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94030461A>G" "" "likely pathogenic (recessive)" ""
"0000780078" "0" "70" "1" "94496017" "94496017" "subst" "4.06075E-6" "01695" "ABCA4_000130" "g.94496017A>G" "" "{PMID:Goetz 2020:32893963}" "" "c.4319T>C, p.F1440S Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94030461A>G" "" "likely pathogenic (recessive)" ""
"0000780079" "0" "90" "1" "94495009" "94495009" "dup" "0" "01695" "ABCA4_000087" "g.94495009dup" "" "{PMID:Goetz 2020:32893963}" "" "c.4537dup" "" "Unknown" "" "" "0" "" "" "g.94029453dup" "" "pathogenic (recessive)" ""
"0000780080" "0" "50" "1" "94483979" "94483979" "subst" "0" "01695" "ABCA4_000018" "g.94483979C>T" "" "{PMID:Goetz 2020:32893963}" "" "c.5196+1159G>A, Intronic Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94018423C>T" "" "VUS" ""
"0000780081" "0" "90" "1" "94564418" "94564418" "subst" "0" "01695" "ABCA4_000375" "g.94564418G>A" "" "{PMID:Goetz 2020:32893963}" "" "c.700C>T, p.Gln234* Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94098862G>A" "" "pathogenic (recessive)" ""
"0000780082" "0" "50" "1" "94544140" "94544141" "ins" "0.000938872" "01695" "ABCA4_001241" "g.94544140_94544141insG" "" "{PMID:Goetz 2020:32893963}" "" "c.1356+5_1356+6insC, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94078584_94078585insG" "" "VUS" ""
"0000780083" "0" "90" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "14, 120056, 0, 0.0001166" "{PMID:Goetz 2020:32893963}" "" "c.634C>T, p.Arg212Cys Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94098928G>A" "" "pathogenic (recessive)" ""
"0000780084" "0" "90" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "14, 120056, 0, 0.0001166" "{PMID:Goetz 2020:32893963}" "" "c.634C>T, p.Arg212Cys Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94098928G>A" "" "pathogenic (recessive)" ""
"0000780085" "0" "70" "1" "94546118" "94546118" "subst" "8.13326E-6" "01695" "ABCA4_000082" "g.94546118A>C" "" "{PMID:Goetz 2020:32893963}" "" "c.1015T>G, p.W339G Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94080562A>C" "" "likely pathogenic (recessive)" ""
"0000780086" "0" "70" "1" "94496583" "94496583" "subst" "2.03092E-5" "01695" "ABCA4_000190" "g.94496583A>G" "1, 120898, 0, 0.000008271" "{PMID:Goetz 2020:32893963}" "" "c.4222T>C, p.Trp1408Arg Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94031027A>G" "" "likely pathogenic (recessive)" ""
"0000780087" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Goetz 2020:32893963}" "" "c.5882G>A, p.Gly1961Glu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000780088" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Goetz 2020:32893963}" "" "c.5461-10T>C, IVS38-10T>C Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000780089" "0" "50" "1" "94543389" "94543389" "subst" "0.000861235" "01695" "ABCA4_000312" "g.94543389C>T" "114, 121404, 0, 0.000939" "{PMID:Goetz 2020:32893963}" "" "c.1411G>A, p.Glu471Lys heterozygous" "" "Unknown" "" "" "0" "" "" "g.94077833C>T" "" "VUS" ""
"0000780090" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "42, 120772, 0, 0.0003478" "{PMID:Goetz 2020:32893963}" "" "c.5714+5G>A, IVS40 Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000780091" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Goetz 2020:32893963}" "" "c.5461-10T>C, IVS38 heterozygous" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000780092" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "42, 120772, 0, 0.0003478" "{PMID:Goetz 2020:32893963}" "" "IVS40+5G>A, splice Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic (recessive)" ""
"0000780093" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Goetz 2020:32893963}" "" "c.5882G>A, p.Gly1961Glu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000780094" "0" "50" "1" "94568675" "94568675" "subst" "0.00146249" "01695" "ABCA4_000210" "g.94568675T>C" "159, 120956, 0, 0.001315" "{PMID:Goetz 2020:32893963}" "" "c.466A>G, p.Ile156Val heterozygous" "" "Unknown" "" "" "0" "" "" "g.94103119T>C" "" "VUS" ""
"0000780095" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Goetz 2020:32893963}" "" "c.5461-10T>C, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000780096" "0" "90" "1" "94520690" "94520690" "subst" "2.03102E-5" "01695" "ABCA4_000149" "g.94520690C>T" "4, 121342, 0, 0.00003296" "{PMID:Goetz 2020:32893963}" "" "c.2564G>A, p.W855X heterozygous" "" "Unknown" "" "" "0" "" "" "g.94055134C>T" "" "pathogenic (recessive)" ""
"0000780097" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Goetz 2020:32893963}" "" "c.5461-10T>C, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000780098" "0" "90" "1" "94473278" "94473278" "del" "3.25908E-5" "01695" "ABCA4_000392" "g.94473278del" "" "{PMID:Goetz 2020:32893963}" "" "c.5917delG>A, p.V1973X heterozygous" "" "Unknown" "" "" "0" "" "" "g.94007722del" "" "pathogenic (recessive)" ""
"0000780099" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Goetz 2020:32893963}" "" "c.2588G>C, p.Gly863Ala heterozygous" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000780100" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "173, 121304, 0, 0.001426" "{PMID:Goetz 2020:32893963}" "" "c.3113C>T, p.Ala1038Val heterozygous" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000780101" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Goetz 2020:32893963}" "" "c.5461-10T>C, heterozygous" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000780102" "0" "90" "1" "94586601" "94586601" "subst" "8.12156E-6" "01695" "ABCA4_000264" "g.94586601T>C" "" "{PMID:Goetz 2020:32893963}" "" "c.1A>G, p.Met1Val heterozygous" "" "Unknown" "" "" "0" "" "" "g.94121045T>C" "" "pathogenic (recessive)" ""
"0000780103" "0" "70" "1" "94480178" "94480178" "subst" "2.43692E-5" "01695" "ABCA4_000005" "g.94480178G>T" "3, 121408, 0, 0.00002471" "{PMID:Goetz 2020:32893963}" "" "c.5381C>A, p.Ala1794Asp Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94014622G>T" "" "likely pathogenic (recessive)" ""
"0000780104" "0" "70" "1" "94506923" "94506923" "subst" "2.43657E-5" "01695" "ABCA4_000012" "g.94506923C>T" "3, 121394, 0, 0.00002471" "{PMID:Goetz 2020:32893963}" "" "c.3364G>A, p.Glu1122Lys heterozygous" "" "Unknown" "" "" "0" "" "" "g.94041367C>T" "" "likely pathogenic (recessive)" ""
"0000780105" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Goetz 2020:32893963}" "" "c.IVS38-10T>C, heterozygous" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000780106" "0" "90" "1" "94497588" "94497588" "subst" "4.153E-6" "01695" "ABCA4_000049" "g.94497588G>A" "1, 117696, 0, 0.000008496" "{PMID:Goetz 2020:32893963}" "" "c.3874C>T, p.Gln1292Ter heterozygous" "" "Unknown" "" "" "0" "" "" "g.94032032G>A" "" "pathogenic (recessive)" ""
"0000780107" "0" "90" "1" "94497588" "94497588" "subst" "4.153E-6" "01695" "ABCA4_000049" "g.94497588G>A" "1, 117696, 0, 0.000008496" "{PMID:Goetz 2020:32893963}" "" "c.3874C>T, p.Q1292X heterozygous" "" "Unknown" "" "" "0" "" "" "g.94032032G>A" "" "pathogenic (recessive)" ""
"0000780108" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "24, 119274, 0, 0.0002012" "{PMID:Goetz 2020:32893963}" "" "c.4139C>T, p.Pro1380Leu heterozygous" "" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000780109" "0" "70" "1" "94543443" "94543443" "subst" "0" "01695" "ABCA4_002124" "g.94543443C>A" "" "{PMID:Goetz 2020:32893963}" "" "c.1357G>T, p.Asp453Tyr Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94077887C>A" "" "likely pathogenic (recessive)" ""
"0000780110" "0" "90" "1" "94486794" "94486794" "subst" "0" "01695" "ABCA4_000478" "g.94486794A>G" "" "{PMID:Goetz 2020:32893963}" "" "c.IVS35+2T>C, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94021238A>G" "" "pathogenic (recessive)" ""
"0000780111" "3" "70" "1" "94485279" "94485293" "del" "0" "01695" "ABCA4_000476" "g.94485279_94485293del" "" "{PMID:Goetz 2020:32893963}" "" "c.5044_5058del15, p.Val1682_Val1686del Homozygous" "" "Unknown" "" "" "0" "" "" "g.94019723_94019737del" "" "likely pathogenic (recessive)" ""
"0000780112" "3" "50" "1" "94486888" "94486888" "subst" "3.65548E-5" "01695" "ABCA4_000137" "g.94486888G>C" "4, 121404, 0, 0.00003295" "{PMID:Goetz 2020:32893963}" "" "c.4926C>G, p.Ser1642Arg Homozygous" "" "Unknown" "" "" "0" "" "" "g.94021332G>C" "" "VUS" ""
"0000780113" "3" "70" "1" "94485279" "94485293" "del" "0" "01695" "ABCA4_000476" "g.94485279_94485293del" "" "{PMID:Goetz 2020:32893963}" "" "c.5044_5058del15, p.Val1682_Val1686del Homozygous" "" "Unknown" "" "" "0" "" "" "g.94019723_94019737del" "" "likely pathogenic (recessive)" ""
"0000780114" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Goetz 2020:32893963}" "" "c.IVS38-10T>C, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000780115" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "173, 121304, 0, 0.001426" "{PMID:Goetz 2020:32893963}" "" "c.3113C>T, p.Ala1038Val Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000780116" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Goetz 2020:32893963}" "" "c.5882G>A, p.Gly1961Glu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000780117" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Goetz 2020:32893963}" "" "c.5882G>A, p.Gly1961Glu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000780118" "0" "50" "1" "94486888" "94486888" "subst" "3.65548E-5" "01695" "ABCA4_000137" "g.94486888G>C" "4, 121404, 0, 0.00003295" "{PMID:Goetz 2020:32893963}" "" "c.4926C>G, p.Ser1642Arg Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94021332G>C" "" "VUS" ""
"0000780119" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Goetz 2020:32893963}" "" "c.5461-10T>C, Intronic Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000780120" "0" "90" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "21, 121302, 0, 0.0001731" "{PMID:Goetz 2020:32893963}" "" "c.2894A>G, p.Asn965Ser Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94046943T>C" "" "pathogenic (recessive)" ""
"0000780121" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Goetz 2020:32893963}" "" "c.5461-10T>C, heterozygous" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000780122" "0" "90" "1" "94473855" "94473855" "subst" "0" "01695" "ABCA4_001649" "g.94473855T>C" "" "{PMID:Goetz 2020:32893963}" "" "5836-2A>G, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94008299T>C" "" "pathogenic (recessive)" ""
"0000780123" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "15, 121412, 0, 0.0001235" "{PMID:Goetz 2020:32893963}" "" "c.1622T>C, p.Leu541Pro Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000780124" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "173, 121304, 0, 0.001426" "{PMID:Goetz 2020:32893963}" "" "c.3113C>T, p.Ala1038Val Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000780125" "0" "90" "1" "94463488" "94463488" "subst" "5.2803E-5" "01695" "ABCA4_000802" "g.94463488G>A" "6, 121316, 0, 0.00004946" "{PMID:Goetz 2020:32893963}" "" "c.6658C>T, p.Gln2220* Heterozygous" "" "Unknown" "" "" "0" "" "" "g.93997932G>A" "" "pathogenic (recessive)" ""
"0000780126" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "14, 121282, 0, 0.0001154" "{PMID:Goetz 2020:32893963}" "" "c.3322C>T, p.Arg1108Cys heterozygous" "" "Unknown" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000780127" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "173, 121304, 0, 0.001426" "{PMID:Goetz 2020:32893963}" "" "c.3113C>T, p.Ala1038Val heterozygous" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic (recessive)" ""
"0000780128" "0" "70" "1" "94493000" "94493000" "subst" "0" "01695" "ABCA4_000015" "g.94493000C>T" "" "{PMID:Goetz 2020:32893963}" "" "c.4539+2001G>A, Splicing Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94027444C>T" "" "likely pathogenic (recessive)" ""
"0000780129" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Goetz 2020:32893963}" "" "c.5882G>A, p.Gly1961Glu heterozygous" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000780130" "3" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Goetz 2020:32893963}" "" "c.5882G>A, p.Gly1961Glu Homozygous" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000780131" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Goetz 2020:32893963}" "" "c.5461-10T>C, heterozygous" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000780132" "0" "90" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "227, 121250, 3, 0.001872" "{PMID:Goetz 2020:32893963}" "" "c.6320G>A, p.Arg2107His heterozygous" "" "Unknown" "" "" "0" "" "" "g.94001068C>T" "" "pathogenic (recessive)" ""
"0000780133" "0" "70" "1" "94492973" "94492973" "subst" "0" "01695" "ABCA4_000030" "g.94492973G>A" "" "{PMID:Goetz 2020:32893963}" "" "c.4539+2028C>T, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94027417G>A" "" "likely pathogenic (recessive)" ""
"0000780134" "0" "50" "1" "94502293" "94502293" "subst" "0" "01695" "ABCA4_000588" "g.94502293T>C" "" "{PMID:Goetz 2020:32893963}" "" "c.3862+3A>G, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94036737T>C" "" "VUS" ""
"0000780135" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "24, 119274, 0, 0.0002012" "{PMID:Goetz 2020:32893963}" "" "c.4139C>T, p.Pro1380Leu heterozygous" "" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000780136" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "24, 119274, 0, 0.0002012" "{PMID:Goetz 2020:32893963}" "" "c.4139C>T, p.Pro1380Leu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000780137" "0" "70" "1" "94496583" "94496583" "subst" "2.03092E-5" "01695" "ABCA4_000190" "g.94496583A>G" "1, 120898, 0, 0.000008271" "{PMID:Goetz 2020:32893963}" "" "c.4222T>C, p.Trp1408Arg Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94031027A>G" "" "likely pathogenic (recessive)" ""
"0000780138" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "5406, 121330, 156, 0.04456" "{PMID:Goetz 2020:32893963}" "" "c.5603A>T, p.Asp.Asn1868Ile Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000780139" "0" "30" "1" "94496602" "94496602" "subst" "0.0234538" "01695" "ABCA4_000913" "g.94496602G>T" "2957, 120728, 46, 0.02449" "{PMID:Goetz 2020:32893963}" "" "c.4203C>A, p.Pro1401Pro Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94031046G>T" "" "likely benign" ""
"0000780140" "0" "70" "1" "94486896" "94486896" "subst" "3.65562E-5" "01695" "ABCA4_000085" "g.94486896G>A" "1, 121394, 0, 0.000008238" "{PMID:Goetz 2020:32893963}" "" "c.4918C>T, p.Arg1640Trp Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94021340G>A" "" "likely pathogenic (recessive)" ""
"0000780141" "0" "10" "1" "94505604" "94505604" "subst" "0.00645586" "01695" "ABCA4_000092" "g.94505604A>C" "879, 64452, 44, 0.01364" "{PMID:Goetz 2020:32893963}" "" "c.3602T>G, p.Leu1201Arg heterozygous" "" "Unknown" "" "" "0" "" "" "g.94040048A>C" "" "benign" ""
"0000780142" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Goetz 2020:32893963}" "" "c.2588G>C, p.Gly863Ala Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000780143" "0" "70" "1" "94495083" "94495083" "subst" "0.000124542" "01695" "ABCA4_000542" "g.94495083G>A" "11, 77176, 0, 0.0001425" "{PMID:Goetz 2020:32893963}" "" "c.4457C>T, p.Pro1486Leu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94029527G>A" "" "likely pathogenic (recessive)" ""
"0000780144" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Goetz 2020:32893963}" "" "c.2588G>C, p.Gly863Ala Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000780145" "0" "70" "1" "94546126" "94546126" "subst" "2.03383E-5" "01695" "ABCA4_000343" "g.94546126G>C" "5, 121366, 0, 0.0000412" "{PMID:Goetz 2020:32893963}" "" "c.1007C>G, p.Ser336Cys heterozygous" "" "Unknown" "" "" "0" "" "" "g.94080570G>C" "" "likely pathogenic (recessive)" ""
"0000780146" "0" "90" "1" "94471026" "94471026" "subst" "1.21925E-5" "01695" "ABCA4_000791" "g.94471026G>A" "2, 121394, 0, 0.00001648" "{PMID:Goetz 2020:32893963}" "" "c.6118C>T, p.Arg2040* Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94005470G>A" "" "pathogenic (recessive)" ""
"0000780147" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Goetz 2020:32893963}" "" "c.5461-10T>C, heterozygous" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000780148" "0" "90" "1" "94544264" "94544264" "subst" "0" "01695" "ABCA4_000325" "g.94544264T>C" "" "{PMID:Goetz 2020:32893963}" "" "1240-2A>G, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94078708T>C" "" "pathogenic (recessive)" ""
"0000780149" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Goetz 2020:32893963}" "" "c.5882G>A, p.Gly1961Glu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000780150" "0" "70" "1" "94577135" "94577135" "subst" "2.43718E-5" "01695" "ABCA4_000240" "g.94577135C>T" "2, 121210, 0, 0.0000165" "{PMID:Goetz 2020:32893963}" "" "c.161G>A, p.Cys54Tyr heterozygous" "" "Unknown" "" "" "0" "" "" "g.94111579C>T" "" "likely pathogenic (recessive)" ""
"0000780151" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Goetz 2020:32893963}" "" "c.5882G>A, p.Gly1961Glu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000780152" "0" "90" "1" "94486870" "94486870" "del" "0" "01695" "ABCA4_000483" "g.94486870del" "" "{PMID:Goetz 2020:32893963}" "" "c.4947delC, p.Glu1650fsTer heterozygous" "" "Unknown" "" "" "0" "" "" "g.94021314del" "" "pathogenic (recessive)" ""
"0000780153" "0" "30" "1" "94461754" "94461754" "subst" "0.0642229" "01695" "ABCA4_000951" "g.94461754A>G" "" "{PMID:Goetz 2020:32893963}" "" "c.6730-3T>C, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.93996198A>G" "" "likely benign" ""
"0000780154" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "5406, 121330, 156, 0.04456" "{PMID:Goetz 2020:32893963}" "" "c.5603A>T, p.Asp.Asn1868Ile Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000780155" "0" "70" "1" "94487251" "94487251" "subst" "2.85679E-5" "01695" "ABCA4_000490" "g.94487251G>T" "3, 113672, 0, 0.00002639" "{PMID:Goetz 2020:32893963}" "" "c.4793C>A, p.Arg1598Asp Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94021695G>T" "" "likely pathogenic (recessive)" ""
"0000780156" "0" "70" "1" "94543269" "94543269" "subst" "0.000179087" "01695" "ABCA4_000307" "g.94543269G>A" "26, 120500, 0, 0.0002158" "{PMID:Goetz 2020:32893963}" "" "c.1531C>T, p.Arg511Cys Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94077713G>A" "" "likely pathogenic (recessive)" ""
"0000780157" "0" "30" "1" "94496602" "94496602" "subst" "0.0234538" "01695" "ABCA4_000913" "g.94496602G>T" "2957, 120728, 46, 0.02449" "{PMID:Goetz 2020:32893963}" "" "c.4203C>A, p.Pro1401Pro Heterozygous" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94031046G>T" "" "likely benign" ""
"0000780158" "0" "70" "1" "94490567" "94490567" "subst" "5.68528E-5" "01695" "ABCA4_000026" "g.94490567G>A" "4, 121406, 0, 0.00003295" "{PMID:Goetz 2020:32893963}" "" "c.4577C>T, p.Thr1526Met Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94025011G>A" "" "likely pathogenic (recessive)" ""
"0000780159" "0" "90" "1" "94510253" "94510253" "subst" "0.000247694" "01695" "ABCA4_000108" "g.94510253A>G" "36, 121412, 0, 0.0002965" "{PMID:Goetz 2020:32893963}" "" "c.2966T>C, p.Val989la Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94044697A>G" "" "pathogenic (recessive)" ""
"0000780160" "0" "50" "1" "94467548" "94467548" "subst" "0.00295661" "01695" "ABCA4_000788" "g.94467548C>G" "334, 121350, 0, 0.002752" "{PMID:Goetz 2020:32893963}" "" "c.6148G>C, p.Val2050Leu heterozygous" "" "Unknown" "" "" "0" "" "" "g.94001992C>G" "" "VUS" ""
"0000780161" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "601, 118484, 2, 0.005072" "{PMID:Goetz 2020:32893963}" "" "c.2588G>C, p.Gly863Ala heterozygous" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic (recessive)" ""
"0000780162" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "15, 121412, 0, 0.0001235" "{PMID:Goetz 2020:32893963}" "" "c.1622T>C, p.Leu541Pro Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000780163" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "15, 121412, 0, 0.0001235" "{PMID:Goetz 2020:32893963}" "" "c.1622T>C, p.Leu541Pro heterozygous" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000780164" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "15, 121412, 0, 0.0001235" "{PMID:Goetz 2020:32893963}" "" "c.1622T>C, p.Leu541Pro heterozygous" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000780165" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "13, 121216, 0, 0.0001072" "{PMID:Goetz 2020:32893963}" "" "c.768G>T, heterozygous" "" "Unknown" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000780166" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "27, 121030, 0, 0.0002231" "{PMID:Goetz 2020:32893963}" "" "c.5461-10T>C, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000780167" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Goetz 2020:32893963}" "" "c.5882G>A, p.Gly1961Glu heterozygous" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000780168" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "15, 121412, 0, 0.0001235" "{PMID:Goetz 2020:32893963}" "" "c.1622T>C, p.Leu541Pro Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000780169" "0" "90" "1" "94546047" "94546047" "subst" "0" "01695" "ABCA4_000150" "g.94546047A>T" "" "{PMID:Goetz 2020:32893963}" "" "c.1086T>A, p.Tyr362* Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94080491A>T" "" "pathogenic (recessive)" ""
"0000780170" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "613, 121302, 4, 0.005054" "{PMID:Goetz 2020:32893963}" "" "c.5882G>A, p.Gly1961Glu Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000780171" "0" "90" "1" "94510248" "94510248" "subst" "0.000544123" "01695" "ABCA4_000107" "g.94510248C>G" "87, 121410, 0, 0.0007166" "{PMID:Goetz 2020:32893963}" "" "c.2971G>C, p.Gly991Arg Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94044692C>G" "" "pathogenic (recessive)" ""
"0000780172" "0" "50" "1" "94568686" "94568686" "subst" "0.00258122" "01695" "ABCA4_000212" "g.94568686C>T" "290, 120866, 1, 0.002399" "{PMID:Goetz 2020:32893963}" "" "c.455G>A, p.Arg152Gln Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94103130C>T" "" "VUS" ""
"0000780173" "0" "50" "1" "94476495" "94476495" "subst" "0" "01695" "ABCA4_000424" "g.94476495A>G" "" "{PMID:Goetz 2020:32893963}" "" "c.IVS39-10T>C, Heterozygous" "" "Unknown" "" "" "0" "" "" "g.94010939A>G" "" "VUS" ""
"0000783886" "1" "70" "1" "94502907" "94502907" "subst" "0" "00000" "ABCA4_001883" "g.94502907C>G" "" "{PMID:Wang 2015:26047050}" "" "" "" "Germline" "" "" "0" "" "" "g.94037351C>G" "" "likely pathogenic" ""
"0000783973" "2" "70" "1" "94568687" "94568687" "subst" "1.62641E-5" "00000" "ABCA4_000024" "g.94568687G>A" "" "{PMID:Wang 2015:26047050}" "" "" "" "Germline" "" "" "0" "" "" "g.94103131G>A" "" "likely pathogenic" ""
"0000784126" "0" "70" "1" "94543248" "94543248" "subst" "6.54247E-5" "00000" "ABCA4_002264" "g.94543248C>T" "1/314 case chromosomes" "{PMID:Xu 2014:24938718}" "" "" "" "Germline" "" "" "0" "" "" "g.94077692C>T" "" "likely pathogenic (recessive)" ""
"0000784127" "0" "70" "1" "94495024" "94495024" "subst" "0" "00000" "ABCA4_002262" "g.94495024C>G" "1/314 case chromosomes" "{PMID:Xu 2014:24938718}" "" "" "" "Germline" "" "" "0" "" "" "g.94029468C>G" "" "likely pathogenic (recessive)" ""
"0000784143" "0" "70" "1" "94526230" "94526230" "subst" "7.32136E-5" "00000" "ABCA4_000760" "g.94526230C>T" "1/314 case chromosomes" "{PMID:Xu 2014:24938718}" "" "" "" "Germline" "" "" "0" "" "" "g.94060674C>T" "" "likely pathogenic (recessive)" ""
"0000784253" "0" "70" "1" "94471025" "94471025" "subst" "0.00031698" "00000" "ABCA4_000096" "g.94471025C>T" "3/314 case chromosomes" "{PMID:Xu 2014:24938718}" "" "" "" "Germline" "" "rs148460146" "0" "" "" "g.94005469C>T" "" "likely pathogenic (recessive)" ""
"0000784254" "0" "70" "1" "94471025" "94471025" "subst" "0.00031698" "00000" "ABCA4_000096" "g.94471025C>T" "3/314 case chromosomes" "{PMID:Xu 2014:24938718}" "" "" "" "Germline" "" "rs148460146" "0" "" "" "g.94005469C>T" "" "likely pathogenic (recessive)" ""
"0000784255" "0" "70" "1" "94564445" "94564445" "subst" "0.000203219" "00000" "ABCA4_001127" "g.94564445C>T" "1/314 case chromosomes" "{PMID:Xu 2014:24938718}" "" "" "" "Germline" "" "" "0" "" "" "g.94098889C>T" "" "likely pathogenic (recessive)" ""
"0000784277" "0" "50" "1" "94463647" "94463647" "subst" "8.12236E-6" "00000" "ABCA4_002259" "g.94463647C>T" "1/314 case chromosomes" "{PMID:Xu 2014:24938718}" "" "" "" "Germline" "" "" "0" "" "" "g.93998091C>T" "" "VUS" ""
"0000784283" "0" "50" "1" "94526095" "94526095" "subst" "8.13001E-6" "00000" "ABCA4_002263" "g.94526095T>C" "2/314 case chromosomes" "{PMID:Xu 2014:24938718}" "" "" "" "Germline" "" "" "0" "" "" "g.94060539T>C" "" "VUS" ""
"0000784341" "0" "70" "1" "94486833" "94486833" "subst" "0" "00000" "ABCA4_002261" "g.94486833G>C" "1/314 case chromosomes" "{PMID:Xu 2014:24938718}" "" "" "" "Germline" "" "" "0" "" "" "g.94021277G>C" "" "likely pathogenic (recessive)" ""
"0000784351" "0" "70" "1" "94520830" "94520830" "subst" "0" "00000" "ABCA4_000727" "g.94520830G>C" "1/314 case chromosomes" "{PMID:Xu 2014:24938718}" "" "" "" "Germline" "" "" "0" "" "" "g.94055274G>C" "" "likely pathogenic (recessive)" ""
"0000784364" "0" "70" "1" "94471025" "94471025" "subst" "0.00031698" "00000" "ABCA4_000096" "g.94471025C>T" "3/314 case chromosomes" "{PMID:Xu 2014:24938718}" "" "" "" "Germline" "" "rs148460146" "0" "" "" "g.94005469C>T" "" "likely pathogenic (recessive)" ""
"0000784373" "0" "70" "1" "94480124" "94480124" "subst" "1.21824E-5" "00000" "ABCA4_001692" "g.94480124A>T" "1/314 case chromosomes" "{PMID:Xu 2014:24938718}" "" "" "" "Germline" "" "" "0" "" "" "g.94014568A>T" "" "likely pathogenic (recessive)" ""
"0000784384" "0" "70" "1" "94485134" "94485135" "ins" "0" "00000" "ABCA4_002260" "g.94485134_94485135insAA" "1/314 case chromosomes" "{PMID:Xu 2014:24938718}" "" "c.5196+3_5196+4insTT" "" "Germline" "" "" "0" "" "" "g.94019578_94019579insAA" "" "likely pathogenic (recessive)" ""
"0000784460" "0" "50" "1" "94564543" "94564543" "subst" "0.000211952" "00000" "ABCA4_000945" "g.94564543G>A" "1/314 case chromosomes" "{PMID:Xu 2014:24938718}" "" "" "" "Germline" "" "rs185729337" "0" "" "" "g.94098987G>A" "" "VUS" ""
"0000784489" "0" "50" "1" "94481287" "94481287" "subst" "0.000171629" "00000" "ABCA4_001207" "g.94481287C>T" "1/314 case chromosomes" "{PMID:Xu 2014:24938718}" "" "" "" "Germline" "" "rs187953772" "0" "" "" "g.94015731C>T" "" "VUS" ""
"0000784515" "0" "50" "1" "94526095" "94526095" "subst" "8.13001E-6" "00000" "ABCA4_002263" "g.94526095T>C" "2/314 case chromosomes" "{PMID:Xu 2014:24938718}" "" "" "" "Germline" "" "" "0" "" "" "g.94060539T>C" "" "VUS" ""
"0000785570" "0" "50" "1" "94476901" "94476901" "subst" "6.50005E-5" "00000" "ABCA4_001486" "g.94476901A>G" "" "{PMID:Liu 2015:25611614}" "" "" "variant found in controls" "Germline" "no" "" "0" "" "" "g.94011345A>G" "" "VUS" ""
"0000786307" "1" "90" "1" "94506901" "94506901" "subst" "0.000308665" "00000" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Méndez-Vidal 2014:25494902}" "" "" "" "Germline" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic" ""
"0000786318" "2" "90" "1" "94508434" "94508435" "ins" "0" "00000" "ABCA4_001404" "g.94508434_94508435insAC" "" "0" "" "" "" "Germline" "" "" "0" "" "" "g.94042878_94042879insAC" "" "pathogenic" ""
"0000786324" "1" "90" "1" "94506935" "94506935" "subst" "0" "00000" "ABCA4_001466" "g.94506935G>C" "" "{PMID:Zhao 2015:25472526}" "" "" "" "Germline" "" "" "0" "" "" "g.94041379G>C" "" "pathogenic" ""
"0000786369" "2" "90" "1" "94544185" "94544185" "subst" "8.12137E-6" "00000" "ABCA4_000177" "g.94544185C>T" "" "{PMID:Zhao 2015:25472526}" "" "" "" "Germline" "" "" "0" "" "" "g.94078629C>T" "" "pathogenic" ""
"0000787732" "1" "50" "1" "94480146" "94480146" "subst" "2.84273E-5" "00006" "ABCA4_000122" "g.94480146T>C" "" "{PMID:Sanchez-Alcudia 2014:25342620}" "" "N1805D" "" "Germline" "" "" "0" "" "" "" "" "VUS" ""
"0000788353" "0" "50" "1" "94471025" "94471025" "subst" "0.00031698" "00000" "ABCA4_000096" "g.94471025C>T" "" "{PMID:Katagiri 2014:25268133}" "" "G6119A" "" "Germline" "" "rs148460146" "0" "" "" "g.94005469C>T" "" "VUS" ""
"0000788357" "0" "50" "1" "94544208" "94544208" "subst" "0.000158364" "00000" "ABCA4_000320" "g.94544208C>T" "" "{PMID:Katagiri 2014:25268133}" "" "G1294A" "" "Germline" "" "rs201117452" "0" "" "" "g.94078652C>T" "" "VUS" ""
"0000788394" "0" "50" "1" "94476477" "94476477" "subst" "0.000125969" "00000" "ABCA4_001099" "g.94476477G>A" "" "{PMID:Katagiri 2014:25268133}" "" "C5593T" "" "Germline" "" "rs201707267" "0" "" "" "g.94010921G>A" "" "VUS" ""
"0000788482" "0" "50" "1" "94544208" "94544208" "subst" "0.000158364" "00000" "ABCA4_000320" "g.94544208C>T" "" "{PMID:Katagiri 2014:25268133}" "" "G1294A" "" "Germline" "" "rs201117452" "0" "" "" "g.94078652C>T" "" "VUS" ""
"0000788526" "3" "90" "1" "94471056" "94471056" "subst" "2.84398E-5" "00000" "ABCA4_000050" "g.94471056G>A" "" "{PMID:Watson 2014:25133751}" "" "" "" "Germline" "" "" "0" "" "" "g.94005500G>A" "" "pathogenic" ""
"0000789711" "0" "30" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Barbazetto 2007:18161617}" "" "G1961E" "" "Unknown" "" "" "0" "" "" "" "" "likely benign" ""
"0000789714" "3" "30" "1" "94514477" "94514477" "subst" "0.00118992" "00000" "ABCA4_000700" "g.94514477G>A" "" "{PMID:Barbazetto 2007:18161617}" "" "T897I" "" "Unknown" "" "" "0" "" "" "" "" "likely benign" ""
"0000789867" "0" "70" "1" "94506923" "94506923" "subst" "2.43657E-5" "00000" "ABCA4_000012" "g.94506923C>T" "" "{PMID:Avela 2019:31087526}" "" "c.3364G>A" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000789868" "0" "70" "1" "94487399" "94487399" "subst" "7.30959E-5" "00000" "ABCA4_000038" "g.94487399T>C" "" "{PMID:Avela 2019:31087526}" "" "c.4773+3A>G" "Check also: Lewis 1999, Duno 2012" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000790396" "2" "50" "1" "94512565" "94512565" "subst" "0.030364" "00000" "ABCA4_000002" "g.94512565C>T" "" "{PMID:Wang 2014:25097241}" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" ""
"0000790445" "0" "50" "1" "94476352" "94476352" "subst" "4.46955E-5" "00000" "ABCA4_001664" "g.94476352G>A" "" "{PMID:Wang 2014:25097241}" "" "" "" "Germline" "" "" "0" "" "" "g.94010796G>A" "" "VUS" ""
"0000790448" "0" "50" "1" "94546261" "94546261" "subst" "0.000648567" "00000" "ABCA4_000353" "g.94546261G>A" "" "{PMID:Wang 2014:25097241}" "" "" "" "Germline" "" "rs190540405" "0" "" "" "g.94080705G>A" "" "VUS" ""
"0000790449" "0" "50" "1" "94512565" "94512565" "subst" "0.030364" "00000" "ABCA4_000002" "g.94512565C>T" "" "{PMID:Wang 2014:25097241}" "" "" "" "Germline" "" "rs1801581" "0" "" "" "g.94047009C>T" "" "VUS" ""
"0000790452" "0" "50" "1" "94512565" "94512565" "subst" "0.030364" "00000" "ABCA4_000002" "g.94512565C>T" "" "{PMID:Wang 2014:25097241}" "" "" "" "Germline" "" "rs1801581" "0" "" "" "g.94047009C>T" "" "VUS" ""
"0000790476" "0" "50" "1" "94514477" "94514477" "subst" "0.00118992" "00000" "ABCA4_000700" "g.94514477G>A" "" "{PMID:Wang 2014:25097241}" "" "" "" "Germline" "" "rs61749440" "0" "" "" "g.94048921G>A" "" "VUS" ""
"0000790501" "0" "50" "1" "94543389" "94543389" "subst" "0.000861235" "00000" "ABCA4_000312" "g.94543389C>T" "" "{PMID:Wang 2014:25097241}" "" "" "" "Germline" "" "rs1800548" "0" "" "" "g.94077833C>T" "" "VUS" ""
"0000790514" "0" "50" "1" "94496053" "94496053" "subst" "0.00437371" "00000" "ABCA4_000556" "g.94496053G>A" "" "{PMID:Wang 2014:25097241}" "" "" "" "Germline" "" "rs1800549" "0" "" "" "g.94030497G>A" "" "VUS" ""
"0000790524" "0" "50" "1" "94543248" "94543248" "subst" "6.54247E-5" "00000" "ABCA4_002264" "g.94543248C>T" "" "{PMID:Wang 2014:25097241}" "" "" "" "Germline" "" "" "0" "" "" "g.94077692C>T" "" "VUS" ""
"0000790556" "0" "50" "1" "94508969" "94508969" "subst" "0.00168642" "00000" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Wang 2014:25097241}" "" "" "" "Germline" "" "rs61751374" "0" "" "" "g.94043413G>A" "" "VUS" ""
"0000790577" "0" "50" "1" "94512565" "94512565" "subst" "0.030364" "00000" "ABCA4_000002" "g.94512565C>T" "" "{PMID:Wang 2014:25097241}" "" "" "" "Germline" "" "rs1801581" "0" "" "" "g.94047009C>T" "" "VUS" ""
"0000790651" "2" "50" "1" "94474387" "94474387" "subst" "8.93662E-5" "00000" "ABCA4_002265" "g.94474387C>A" "" "{PMID:Wang 2014:25097241}" "" "" "" "Germline" "" "" "0" "" "" "g.94008831C>A" "" "VUS" ""
"0000790652" "1" "50" "1" "94564352" "94564352" "subst" "4.06187E-6" "00000" "ABCA4_002174" "g.94564352C>A" "" "{PMID:Wang 2014:25097241}" "" "" "" "Germline" "" "" "0" "" "" "g.94098796C>A" "" "VUS" ""
"0000790953" "0" "90" "1" "94467548" "94467548" "subst" "0" "00000" "ABCA4_002266" "g.94467548C>T" "" "{PMID:Poloschek-2010:20335603}" "" "c.6148G>A" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000790955" "0" "90" "1" "94467548" "94467548" "subst" "0" "00000" "ABCA4_002266" "g.94467548C>T" "" "{PMID:Poloschek-2010:20335603}" "" "c.6148G>A" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000790959" "0" "90" "1" "94467548" "94467548" "subst" "0" "00000" "ABCA4_002266" "g.94467548C>T" "" "{PMID:Poloschek-2010:20335603}" "" "c.6148G>A" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000791151" "11" "70" "1" "94466621" "94466627" "del" "0" "00000" "ABCA4_000837" "g.94466621_94466627del" "0 (in-house database, ~5000 samples)" "Tracewska 2021, MolVis in press" "" "" "" "Germline" "yes" "" "0" "" "" "g.94001065_94001071del" "" "likely pathogenic" "ACMG"
"0000791182" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "0,00642 (in-house database, ~5000 samples)" "Tracewska 2021, MolVis in press" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "VUS" "ACMG"
"0000791220" "0" "90" "1" "94467548" "94467548" "subst" "0.00295661" "00000" "ABCA4_000788" "g.94467548C>G" "0,0000042 (in-house database, ~5000 samples)" "Tracewska 2021, MolVis in press" "" "" "" "Germline" "" "" "0" "" "" "g.94001992C>G" "" "pathogenic" "ACMG"
"0000791243" "21" "90" "1" "94512499" "94512499" "subst" "0.000130029" "00000" "ABCA4_000072" "g.94512499T>C" "0,0001 (in-house database, ~5000 samples)" "Tracewska 2021, MolVis in press" "" "" "" "Germline" "yes" "" "0" "" "" "g.94046943T>C" "" "pathogenic" "ACMG"
"0000791258" "0" "50" "1" "94568687" "94568687" "subst" "1.62641E-5" "00000" "ABCA4_000024" "g.94568687G>A" "0,00041 (in-house database, ~5000 samples)" "Tracewska 2021, MolVis in press" "" "" "" "Germline" "" "" "0" "" "" "g.94103131G>A" "" "VUS" "ACMG"
"0000791627" "0" "50" "1" "94476352" "94476352" "subst" "4.46955E-5" "00000" "ABCA4_001664" "g.94476352G>A" "" "{PMID:Hosono 2018:29844330}" "" "c.5714+4C>T" "single heterozygous variant in a recessive gene, probably not causative in the patient" "Germline" "no" "rs376586802" "0" "" "" "g.94010796G>A" "" "VUS" "ACMG"
"0000791629" "0" "50" "1" "94487460" "94487460" "subst" "0.000113716" "04521" "ABCA4_000505" "g.94487460G>A" "" "{PMID:Hosono 2018:29844330}" "" "c.4715C>T" "single heterozygous variant in a recessive gene, probably not causative in the patient" "Germline" "no" "rs185093512" "0" "" "" "g.94021904G>A" "" "VUS" "ACMG"
"0000791630" "0" "50" "1" "94487460" "94487460" "subst" "0.000113716" "04521" "ABCA4_000505" "g.94487460G>A" "" "{PMID:Hosono 2018:29844330}" "" "c.4715C>T" "single heterozygous variant in a recessive gene, probably not causative in the patient" "Germline" "no" "rs185093512" "0" "" "" "g.94021904G>A" "" "VUS" "ACMG"
"0000792214" "3" "90" "1" "94576990" "94576990" "subst" "0" "00000" "ABCA4_000221" "g.94576990T>G" "" "{PMID: Siemiatkowska 2011:22128245}" "" "c.302+4A>C" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000792215" "3" "90" "1" "94576990" "94576990" "subst" "0" "00000" "ABCA4_000221" "g.94576990T>G" "" "{PMID: Siemiatkowska 2011:22128245}" "" "c.302+4A>C" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000792254" "0" "50" "1" "94544234" "94544234" "subst" "0.255245" "00000" "ABCA4_000322" "g.94544234T>C" "" "{PMID:_Audo-2012:22277662}" "" "c.1268A>G" "" "Unknown" "" "" "0" "" "" "" "" "VUS" ""
"0000792255" "0" "50" "1" "94461717" "94461717" "subst" "0.0703199" "00000" "ABCA4_000003" "g.94461717C>A" "" "{PMID:_Audo-2012:22277662}" "" "c.6764G>T" "" "Unknown" "" "" "0" "" "" "" "" "VUS" ""
"0000792256" "0" "70" "1" "0" "0" "subst" "0" "00000" "ABCA4_000000" "g.?" "" "{PMID:_Audo-2012:22277662}" "" "c.3482C>A" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000792257" "0" "50" "1" "94544913" "94544913" "subst" "4.06134E-6" "00000" "ABCA4_002270" "g.94544913G>A" "" "{PMID:_Audo-2012:22277662}" "" "c.1204C>T" "" "Unknown" "" "" "0" "" "" "" "" "VUS" ""
"0000792276" "0" "90" "1" "94577082" "94577082" "subst" "2.84315E-5" "00000" "ABCA4_000232" "g.94577082C>T" "" "{PMID:Thiadens_2012:22264887}" "" "c.214G>A" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" ""
"0000792277" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "00000" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Thiadens_2012:22264887}" "" "c.5461-10T>C" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" ""
"0000792278" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "00000" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Thiadens_2012:22264887}" "" "c.768G>T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" ""
"0000792279" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "00000" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Thiadens_2012:22264887}" "" "c.2588G>C" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" ""
"0000792281" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "00000" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Thiadens_2012:22264887}" "" "c.768G>T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" ""
"0000792282" "0" "90" "1" "94480256" "94480256" "subst" "0" "00000" "ABCA4_001703" "g.94480256A>G" "" "{PMID:Thiadens_2012:22264887}" "" "c.5313-10T>C" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" ""
"0000792283" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "00000" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Thiadens_2012:22264887}" "" "c.768G>T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" ""
"0000792284" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "00000" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Thiadens_2012:22264887}" "" "c.768G>T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" ""
"0000792285" "0" "90" "1" "94528248" "94528248" "subst" "1.22148E-5" "00000" "ABCA4_000279" "g.94528248A>T" "" "{PMID:Thiadens_2012:22264887}" "" "c.1822T>A" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" ""
"0000792286" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Thiadens_2012:22264887}" "" "c.5882G>A" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" ""
"0000792287" "0" "90" "1" "94495000" "94495000" "subst" "0" "00000" "ABCA4_000164" "g.94495000C>A" "" "{PMID:Thiadens_2012:22264887}" "" "c.4539+1G>T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" ""
"0000792288" "0" "90" "1" "94474379" "94474380" "dup" "0" "00000" "ABCA4_000409" "g.94474379_94474380dup" "" "{PMID:Thiadens_2012:22264887}" "" "c.5762_5763dup" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" ""
"0000792289" "0" "90" "1" "94467467" "94467467" "subst" "4.06164E-6" "00000" "ABCA4_000095" "g.94467467G>C" "" "{PMID:Thiadens_2012:22264887}" "" "c.6229C>G" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" ""
"0000792290" "0" "90" "1" "94466422" "94466422" "subst" "2.43651E-5" "00000" "ABCA4_000817" "g.94466422C>T" "" "{PMID:Thiadens_2012:22264887}" "" "c.6449G>A" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" ""
"0000792291" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Thiadens_2012:22264887}" "" "c.5882G>A" "normal 2nd chromosome" "Unknown" "" "" "0" "" "" "" "" "pathogenic" ""
"0000792293" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "00000" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Thiadens_2012:22264887}" "" "c.768G>T" "normal 2nd chromosome" "Unknown" "" "" "0" "" "" "" "" "pathogenic" ""
"0000792294" "0" "90" "1" "94514477" "94514477" "subst" "0.00118992" "00000" "ABCA4_000700" "g.94514477G>A" "" "{PMID:Thiadens_2012:22264887}" "" "c.2690C>T" "normal 2nd chromosome" "Unknown" "" "" "0" "" "" "" "" "pathogenic" ""
"0000792295" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "00000" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Thiadens_2012:22264887}" "" "c.5461-10T>C" "normal 2nd chromosome" "Unknown" "" "" "0" "" "" "" "" "pathogenic" ""
"0000792296" "0" "90" "1" "94473287" "94473287" "subst" "0.00293818" "00000" "ABCA4_000395" "g.94473287G>A" "" "{PMID:Thiadens_2012:22264887}" "" "c.5908C>T" "normal 2nd chromosome" "Unknown" "" "" "0" "" "" "" "" "pathogenic" ""
"0000792297" "1" "90" "1" "94517254" "94517254" "subst" "0.00442654" "00000" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Thiadens_2012:22264887}" "" "c.2588G>C/c.2828G>A (p.G863A/p.R943Q)" "normal 2nd chromosome" "Unknown" "" "" "0" "" "" "" "" "pathogenic" ""
"0000792298" "1" "90" "1" "94512565" "94512565" "subst" "0.030364" "00000" "ABCA4_000002" "g.94512565C>T" "" "{PMID:Thiadens_2012:22264887}" "" "c.2588G>C/c.2828G>A" "normal 2nd chromosome" "Unknown" "" "" "0" "" "" "" "" "pathogenic" ""
"0000792299" "0" "10" "1" "94514466" "94514466" "subst" "0.00192081" "00000" "ABCA4_000008" "g.94514466T>C" "" "{PMID:Thiadens_2012:22264887}" "" "c.2701A>G" "normal 2nd chromosome" "Unknown" "" "" "0" "" "" "" "" "benign" ""
"0000792300" "0" "10" "1" "94502701" "94502701" "subst" "0" "00000" "ABCA4_000594" "g.94502701C>G" "" "{PMID:Thiadens_2012:22264887}" "" "c.3813G>C" "normal 2nd chromosome" "Unknown" "" "" "0" "" "" "" "" "benign" ""
"0000792328" "0" "70" "1" "94506817" "94506817" "subst" "0" "03508" "ABCA4_001342" "g.94506817A>C" "" "" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "pathogenic" "ACMG"
"0000792329" "0" "70" "1" "94528137" "94528137" "subst" "2.03363E-5" "03508" "ABCA4_000774" "g.94528137C>T" "" "" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "VUS" ""
"0000792349" "0" "70" "1" "94546253" "94546253" "subst" "0" "03508" "ABCA4_001351" "g.94546253G>A" "" "" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "pathogenic" "ACMG"
"0000792350" "0" "70" "1" "94487427" "94487427" "subst" "8.12176E-6" "03508" "ABCA4_001339" "g.94487427A>G" "" "" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "VUS" "ACMG"
"0000792403" "0" "70" "1" "94506817" "94506817" "subst" "0" "03508" "ABCA4_001342" "g.94506817A>C" "" "" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "pathogenic" "ACMG"
"0000792404" "0" "70" "1" "94544895" "94544895" "subst" "1.62455E-5" "03508" "ABCA4_000329" "g.94544895G>A" "" "" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "pathogenic" "ACMG"
"0000792407" "0" "70" "1" "94466624" "94466624" "subst" "0.0014345" "03508" "ABCA4_000093" "g.94466624C>T" "" "" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "VUS" "ACMG"
"0000793745" "0" "50" "1" "94506935" "94506935" "subst" "0" "00000" "ABCA4_001466" "g.94506935G>C" "0.00% in 360 controls" "{PMID:Simpson-2011:21147909}" "" "c.3352C>G" "" "Germline" "" "" "0" "" "" "" "" "VUS" ""
"0000793875" "0" "50" "1" "94486896" "94486896" "subst" "3.65562E-5" "00000" "ABCA4_000085" "g.94486896G>A" "" "{PMID:Leng-2012:22466470}" "" "c.4918C>T" "" "Germline" "" "" "0" "" "" "" "" "VUS" ""
"0000793876" "0" "50" "1" "94528844" "94528844" "subst" "0" "00000" "ABCA4_001435" "g.94528844G>T" "" "{PMID:Leng-2012:22466470}" "" "c.1584C>A" "" "Germline" "" "" "0" "" "" "" "" "VUS" ""
"0000793877" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Leng-2012:22466470}" "" "c.5882G>A" "" "Germline" "" "" "0" "" "" "" "" "VUS" ""
"0000793878" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Leng-2012:22466470}" "" "c.5882G>A" "" "Germline" "" "" "0" "" "" "" "" "VUS" ""
"0000793899" "3" "50" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Foote-2019:10480356}" "" "c.5882G>A" "" "Germline" "" "" "0" "" "" "" "" "VUS" ""
"0000794023" "0" "90" "1" "94548932" "94548932" "del" "0" "00000" "ABCA4_001022" "g.94548932delA" "" "{PMID:Nishiguchi-2012:22848652}" "" "c.834delT" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000794046" "0" "70" "1" "94471026" "94471026" "subst" "1.21925E-5" "03508" "ABCA4_000791" "g.94471026G>A" "" "" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "pathogenic" "ACMG"
"0000794047" "0" "70" "1" "94564457" "94564457" "dup" "0" "03508" "ABCA4_002267" "g.94564457dup" "" "" "" "664dupG" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94098901dup" "" "pathogenic" "ACMG"
"0000794054" "0" "70" "1" "94481295" "94481295" "subst" "0" "03508" "ABCA4_002268" "g.94481295C>A" "" "" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "VUS" "ACMG"
"0000794055" "0" "70" "1" "94526296" "94526296" "subst" "1.64555E-5" "03508" "ABCA4_000768" "g.94526296G>A" "" "" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "VUS" "ACMG"
"0000794079" "0" "70" "1" "94466624" "94466624" "subst" "0.0014345" "03508" "ABCA4_000093" "g.94466624C>T" "" "" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "VUS" "ACMG"
"0000794080" "0" "70" "1" "94564355" "94564355" "subst" "0.000105612" "03508" "ABCA4_000365" "g.94564355G>A" "" "" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "VUS" "ACMG"
"0000794083" "0" "70" "1" "94546253" "94546253" "subst" "0" "03508" "ABCA4_001351" "g.94546253G>A" "" "" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "pathogenic" "ACMG"
"0000794084" "0" "70" "1" "94564350" "94564350" "subst" "0" "03508" "ABCA4_002269" "g.94564350C>T" "" "" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "VUS" "ACMG"
"0000794085" "0" "70" "1" "94510185" "94510187" "del" "0" "03508" "ABCA4_001962" "g.94510185_94510187del" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94044629_94044631del" "" "VUS" "ACMG"
"0000794086" "0" "70" "1" "94546253" "94546253" "subst" "0" "03508" "ABCA4_001351" "g.94546253G>A" "" "" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "pathogenic" "ACMG"
"0000794092" "0" "70" "1" "94502891" "94502891" "subst" "0" "03508" "ABCA4_001882" "g.94502891A>C" "" "" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "VUS" "ACMG"
"0000794093" "3" "70" "1" "94544895" "94544895" "subst" "1.62455E-5" "03508" "ABCA4_000329" "g.94544895G>A" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic" "ACMG"
"0000794109" "0" "70" "1" "94487413" "94487413" "subst" "0" "03508" "ABCA4_001338" "g.94487413T>A" "" "" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "VUS" "ACMG"
"0000794110" "0" "70" "1" "94487427" "94487427" "subst" "8.12176E-6" "03508" "ABCA4_001339" "g.94487427A>G" "" "" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "VUS" "ACMG"
"0000794140" "0" "70" "X" "38182648" "38182648" "subst" "5.84211E-6" "00000" "ABCA4_001249" "g.38182648T>C" "" "{PMID:Wan 2018:30245926}" "" "c.154+4A>G; Splicing" "Known high myopia gene; heterozygous variant" "Unknown" "?" "rs764483977" "0" "" "" "g.38323395T>C" "" "likely pathogenic" ""
"0000794210" "0" "70" "1" "94528164" "94528164" "subst" "0" "03508" "ABCA4_001311" "g.94528164G>T" "" "" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "VUS" "ACMG"
"0000794211" "0" "70" "1" "94543278" "94543278" "subst" "0.000178952" "03508" "ABCA4_000004" "g.94543278G>A" "" "" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "VUS" "ACMG"
"0000794228" "0" "70" "1" "94495157" "94495157" "subst" "0" "03508" "ABCA4_000545" "g.94495157C>T" "" "" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "pathogenic" "ACMG"
"0000794229" "0" "70" "1" "94546253" "94546253" "subst" "0" "03508" "ABCA4_001351" "g.94546253G>A" "" "" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "pathogenic" "ACMG"
"0000794230" "0" "70" "1" "94546253" "94546253" "subst" "0" "03508" "ABCA4_001351" "g.94546253G>A" "" "" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "pathogenic" "ACMG"
"0000794231" "0" "70" "1" "94568687" "94568687" "subst" "1.62641E-5" "03508" "ABCA4_000024" "g.94568687G>A" "" "" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "pathogenic" "ACMG"
"0000794237" "0" "70" "1" "94528729" "94528729" "subst" "0.000255885" "03508" "ABCA4_000297" "g.94528729C>T" "" "" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "VUS" "ACMG"
"0000794238" "0" "70" "1" "94510271" "94510271" "subst" "0" "03508" "ABCA4_000670" "g.94510271G>A" "" "" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "VUS" "ACMG"
"0000794274" "0" "70" "1" "94520830" "94520830" "subst" "0" "03508" "ABCA4_000727" "g.94520830G>C" "" "" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "pathogenic" "ACMG"
"0000794275" "0" "70" "1" "94466482" "94466482" "subst" "0" "03508" "ABCA4_000829" "g.94466482A>T" "" "" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "VUS" "ACMG"
"0000794708" "0" "70" "1" "94471055" "94471055" "subst" "0.00035346" "00000" "ABCA4_000029" "g.94471055C>T" "" "{PMID:Kersten 2018:30215852}" "" "c.6089G>A; p.R2030Q" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94005499C>T" "" "likely pathogenic" ""
"0000794709" "0" "70" "1" "94508969" "94508969" "subst" "0.00168642" "00000" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Kersten 2018:30215852}" "" "c.3113C>T; p.A1038V" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic" ""
"0000794710" "0" "70" "1" "94510272" "94510272" "subst" "4.06062E-6" "00000" "ABCA4_000070" "g.94510272T>C" "" "{PMID:Kersten 2018:30215852}" "" "c.2947A>G; p.T983A" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94044716T>C" "" "likely pathogenic" ""
"0000794711" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "00000" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Kersten 2018:30215852}" "" "c.2588G>C; p.G863A" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic" ""
"0000794712" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "00000" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Kersten 2018:30215852}" "" "c.2588G>C; p.G863A" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic" ""
"0000794713" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "00000" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Kersten 2018:30215852}" "" "c.2588G>C; p.G863A" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic" ""
"0000794714" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "00000" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Kersten 2018:30215852}" "" "c.2588G>C; p.G863A" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic" ""
"0000794715" "0" "70" "1" "94520708" "94520708" "subst" "0.00102774" "00000" "ABCA4_000074" "g.94520708A>G" "" "{PMID:Kersten 2018:30215852}" "" "c.2546?T>C; p.V849A" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94055152A>G" "" "likely pathogenic" ""
"0000794763" "0" "70" "1" "94528149" "94528149" "subst" "0" "03508" "ABCA4_002069" "g.94528149A>C" "" "" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "VUS" "ACMG"
"0000794764" "0" "70" "1" "94466655" "94466655" "subst" "0" "03508" "ABCA4_000842" "g.94466655G>A" "" "" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "VUS" "ACMG"
"0000794772" "0" "70" "1" "94543444" "94543444" "subst" "0" "03508" "ABCA4_002272" "g.94543444C>G" "" "" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "VUS" "ACMG"
"0000794773" "0" "70" "1" "94495157" "94495157" "subst" "0" "03508" "ABCA4_000545" "g.94495157C>T" "" "" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "pathogenic" "ACMG"
"0000794774" "0" "70" "1" "94543444" "94543444" "subst" "0" "03508" "ABCA4_002272" "g.94543444C>G" "" "" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "VUS" "ACMG"
"0000794775" "0" "70" "1" "94495157" "94495157" "subst" "0" "03508" "ABCA4_000545" "g.94495157C>T" "" "" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "pathogenic" "ACMG"
"0000794777" "0" "70" "1" "94543444" "94543444" "subst" "0" "03508" "ABCA4_002272" "g.94543444C>G" "" "" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "VUS" "ACMG"
"0000794778" "0" "70" "1" "94487427" "94487427" "subst" "8.12176E-6" "03508" "ABCA4_001339" "g.94487427A>G" "" "" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "VUS" "ACMG"
"0000794782" "0" "70" "1" "94543444" "94543444" "subst" "0" "03508" "ABCA4_002272" "g.94543444C>G" "" "" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "VUS" "ACMG"
"0000794783" "0" "70" "1" "94510271" "94510271" "subst" "0" "03508" "ABCA4_000670" "g.94510271G>A" "" "" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "VUS" "ACMG"
"0000794810" "3" "70" "1" "94508323" "94508323" "subst" "0.000125953" "00000" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Ezquerra-Inchausti 2018:30337596}" "" "NM_000350, c.3322C>T, p.Arg1108Cys" "" "Germline" "yes" "" "0" "" "" "g.94042767G>A" "" "likely pathogenic" ""
"0000794830" "0" "70" "1" "94490567" "94490567" "subst" "5.68528E-5" "00000" "ABCA4_000026" "g.94490567G>A" "" "{PMID:Ezquerra-Inchausti 2018:30337596}" "" "NM_000350, c.4577C>T, p.Thr1526Met" "" "Germline" "?" "" "0" "" "" "g.94025011G>A" "" "likely pathogenic" ""
"0000794831" "0" "70" "1" "94506901" "94506901" "subst" "0.000308665" "00000" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Ezquerra-Inchausti 2018:30337596}" "" "NM_000350, c.3386G>T, p.Arg1129Leu" "" "Germline" "?" "" "0" "" "" "g.94041345C>A" "" "likely pathogenic" ""
"0000794878" "0" "70" "1" "94517188" "94517255" "del" "0" "03508" "ABCA4_002273" "g.(94514514_94517188)_(94517255_94520666)del" "" "" "" "2588-?_2653+?del" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.(94048958_94051632)_(94051699_94055110)del" "" "pathogenic" ""
"0000795013" "0" "90" "1" "94466482" "94466482" "subst" "0" "00000" "ABCA4_000829" "g.94466482A>T" "" "{PMID:Yi-2012:22948568}" "" "c.6389T>A" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" ""
"0000795014" "0" "90" "1" "94476424" "94476424" "subst" "2.43694E-5" "00000" "ABCA4_000418" "g.94476424C>T" "" "{PMID:Yi-2012:22948568}" "" "c.5646G>A" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" ""
"0000795015" "0" "10" "1" "94476388" "94476388" "subst" "0.215397" "00000" "ABCA4_000890" "g.94476388C>G" "" "{PMID:Yi-2012:22948568}" "" "c.5682G>C" "" "Unknown" "" "" "0" "" "" "" "" "benign" ""
"0000795058" "3" "90" "1" "94463488" "94463488" "subst" "5.2803E-5" "00000" "ABCA4_000802" "g.94463488G>A" "" "{PMID:Khan-2013:23134348}" "" "c.6658C>T" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" ""
"0000795932" "0" "90" "1" "94466391" "94467549" "" "0" "00000" "ABCA4_002274" "g.(94463667_94466391)_(94467549_94470996)del" "" "{PMID:Schorderet-2013:23484092}" "" "p.ABCA4-ex45-47del" "" "Germline" "yes" "" "0" "" "" "g.(93998111_94000835)_(94001993_94005440)del" "" "pathogenic" ""
"0000796053" "0" "90" "1" "94487399" "94487399" "subst" "7.30959E-5" "00000" "ABCA4_000038" "g.94487399T>C" "" "{PMID:Jonsson-2013:23443024}" "" "c.4773+3A>G" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" ""
"0000796054" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "00000" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Jonsson-2013:23443024}" "" "c.5461-10T>C" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" ""
"0000796055" "0" "90" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Jonsson-2013:23443024}" "" "p.N1868I" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" ""
"0000796056" "0" "90" "1" "94487399" "94487399" "subst" "7.30959E-5" "00000" "ABCA4_000038" "g.94487399T>C" "" "{PMID:Jonsson-2013:23443024}" "" "c.4773+3A>G" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" ""
"0000796058" "0" "90" "1" "94487399" "94487399" "subst" "7.30959E-5" "00000" "ABCA4_000038" "g.94487399T>C" "" "{PMID:Jonsson-2013:23443024}" "" "c.4773+3A>G" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" ""
"0000796061" "3" "90" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Jonsson-2013:23443024}" "" "p.N1868I" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" ""
"0000796062" "3" "90" "1" "94476951" "94476951" "subst" "0.000236097" "00000" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Jonsson-2013:23443024}" "" "c.5461-10T>C" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" ""
"0000796683" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Eisenberger-2013:24265693}" "" "c.5603A>T" "" "Germline" "" "rs1801466" "0" "" "" "" "" "likely pathogenic" ""
"0000796690" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Eisenberger-2013:24265693}" "" "c.5603A>T" "" "Germline" "" "rs1801466" "0" "" "" "" "" "likely pathogenic" ""
"0000796702" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Eisenberger-2013:24265693}" "" "c.5603A>T" "" "Germline" "" "rs1801466" "0" "" "" "" "" "likely pathogenic" ""
"0000796716" "0" "70" "1" "94522186" "94522186" "subst" "2.03383E-5" "00000" "ABCA4_002036" "g.94522186G>A" "" "{PMID:Eisenberger-2013:24265693}" "" "c.2353C>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000796732" "3" "90" "1" "94586601" "94586601" "subst" "8.12156E-6" "00000" "ABCA4_000264" "g.94586601T>C" "" "{PMID:Eisenberger-2013:24265693}" "" "c.1A>G" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000796740" "0" "70" "1" "94522355" "94522355" "subst" "0" "00000" "ABCA4_002049" "g.94522355G>T" "" "{PMID:Eisenberger-2013:24265693}" "" "c.2184C>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000796760" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Eisenberger-2013:24265693}" "" "c.5882G>A" "" "Germline" "" "rs1800553" "0" "" "" "" "" "likely pathogenic" ""
"0000796774" "0" "70" "1" "94564500" "94564500" "subst" "0.00100414" "00000" "ABCA4_000069" "g.94564500G>C" "" "{PMID:Eisenberger-2013:24265693}" "" "c.618C>G" "" "Germline" "" "rs61748536" "0" "" "" "" "" "likely pathogenic" ""
"0000796782" "0" "70" "1" "94528774" "94528774" "subst" "0.00264827" "00000" "ABCA4_000298" "g.94528774C>T" "" "{PMID:Eisenberger-2013:24265693}" "" "c.1654G>A" "" "Germline" "" "rs145525174" "0" "" "" "" "" "likely pathogenic" ""
"0000796783" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "00000" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Eisenberger-2013:24265693}" "" "c.5714+5G>A" "" "Germline" "" "rs61751407" "0" "" "" "" "" "likely pathogenic" ""
"0000796787" "0" "90" "1" "94544977" "94544977" "subst" "0.000544432" "00000" "ABCA4_000332" "g.94544977A>T" "" "{PMID:Eisenberger-2013:24265693}" "" "c.1140T>A" "" "Germline" "" "rs61748549" "0" "" "" "" "" "pathogenic" ""
"0000796790" "0" "90" "1" "94476428" "94476428" "subst" "7.71699E-5" "00000" "ABCA4_000422" "g.94476428G>A" "" "{PMID:Eisenberger-2013:24265693}" "" "c.5642C>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000796791" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Eisenberger-2013:24265693}" "" "c.5882G>A" "" "Germline" "" "rs1800553" "0" "" "" "" "" "likely pathogenic" ""
"0000796803" "0" "70" "1" "94528143" "94528143" "subst" "0.00124448" "00000" "ABCA4_000076" "g.94528143C>T" "" "{PMID:Eisenberger-2013:24265693}" "" "c.1927G>A" "" "Germline" "" "rs61749417" "0" "" "" "" "" "likely pathogenic" ""
"0000796806" "0" "70" "1" "94487404" "94487404" "subst" "0.00244055" "00000" "ABCA4_000497" "g.94487404C>T" "" "{PMID:Eisenberger-2013:24265693}" "" "c.4771G>A" "" "Germline" "" "rs113106943" "0" "" "" "" "" "likely pathogenic" ""
"0000796817" "0" "70" "1" "94528142" "94528142" "subst" "0" "00000" "ABCA4_000000" "g.94528142C>T" "" "{PMID:Eisenberger-2013:24265693}" "" "c.1928G>A" "" "Germline" "" "rs114572202" "0" "" "" "" "" "likely pathogenic" ""
"0000796819" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Eisenberger-2013:24265693}" "" "c.5603A>T" "" "Germline" "" "rs1801466" "0" "" "" "" "" "likely pathogenic" ""
"0000796829" "0" "70" "1" "94506805" "94506805" "subst" "0" "00000" "ABCA4_002275" "g.94506805C>A" "" "{PMID:Eisenberger-2013:24265693}" "" "c.3482G>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000796830" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Eisenberger-2013:24265693}" "" "c.5603A>T" "" "Germline" "" "rs1801466" "0" "" "" "" "" "likely pathogenic" ""
"0000796839" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Eisenberger-2013:24265693}" "" "c.5882G>A" "" "Germline" "" "rs1800553" "0" "" "" "" "" "likely pathogenic" ""
"0000796844" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Eisenberger-2013:24265693}" "" "c.5603A>T" "" "Germline" "" "rs1801466" "0" "" "" "" "" "likely pathogenic" ""
"0000796846" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Eisenberger-2013:24265693}" "" "c.5603A>T" "" "Germline" "" "rs1801466" "0" "" "" "" "" "likely pathogenic" ""
"0000796849" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Eisenberger-2013:24265693}" "" "c.5603A>T" "" "Germline" "" "rs1801466" "0" "" "" "" "" "likely pathogenic" ""
"0000796853" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Eisenberger-2013:24265693}" "" "c.5603A>T" "" "Germline" "" "rs1801466" "0" "" "" "" "" "likely pathogenic" ""
"0000796859" "0" "70" "1" "94528143" "94528143" "subst" "0.00124448" "00000" "ABCA4_000076" "g.94528143C>T" "" "{PMID:Eisenberger-2013:24265693}" "" "c.1927G>A" "" "Germline" "" "rs143548435" "0" "" "" "" "" "likely pathogenic" ""
"0000796860" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Eisenberger-2013:24265693}" "" "c.5603A>T" "" "Germline" "" "rs1801466" "0" "" "" "" "" "likely pathogenic" ""
"0000796861" "0" "70" "1" "94463617" "94463617" "subst" "0.0109114" "00000" "ABCA4_000013" "g.94463617C>T" "" "{PMID:Eisenberger-2013:24265693}" "" "c.6529G>A" "" "Germline" "" "rs1800555" "0" "" "" "" "" "likely pathogenic" ""
"0000796984" "0" "90" "1" "94577009" "94577009" "del" "0" "00000" "ABCA4_000160" "g.94577009del" "" "{PMID:Corton-2013:23940504}" "" "c.287delA" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000796985" "0" "90" "1" "94467548" "94467548" "subst" "0.00295661" "00000" "ABCA4_000788" "g.94467548C>G" "" "{PMID:Corton-2013:23940504}" "" "c.6148G.C" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000796986" "0" "90" "1" "94487455" "94487455" "subst" "4.06128E-6" "00000" "ABCA4_000504" "g.94487455C>A" "" "{PMID:Corton-2013:23940504}" "" "c.4720G.T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000796987" "0" "90" "1" "94546183" "94546183" "del" "4.06762E-6" "00000" "ABCA4_000350" "g.94546183del" "" "{PMID:Corton-2013:23940504}" "" "c.950delG" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000796988" "3" "90" "1" "94522254" "94522254" "subst" "0" "00000" "ABCA4_000742" "g.94522254G>T" "" "{PMID:Corton-2013:23940504}" "" "c.2285C.A" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000797101" "0" "90" "1" "94528806" "94528806" "delins" "0" "00000" "ABCA4_000020" "g.94528806delinsGG" "" "{PMID:Birtel 2018:30543658}" "" "c.1622T>C c.3113C>T , p.Leu541Pro" "Heterozygous" "Germline" "yes" "rs61751392" "0" "" "" "g.94063250delinsGG" "" "pathogenic" "ACMG"
"0000797167" "0" "70" "1" "94508969" "94508969" "subst" "0.00168642" "00000" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Birtel 2018:30543658}" "" "c.3113C>T, p.Ala1038Val" "Heterozygous" "Germline" "" "rs61751374" "0" "" "" "g.94043413G>A" "" "likely pathogenic" "ACMG"
"0000797168" "0" "90" "1" "94528179" "94528179" "subst" "0" "00000" "ABCA4_001433" "g.94528179C>T" "" "{PMID:Birtel 2018:30543658}" "" "c.1891G>A, p.Gly631Arg" "Heterozygous" "Germline" "" "rs886044730" "0" "" "" "g.94062623C>T" "" "pathogenic" "ACMG"
"0000797188" "0" "70" "1" "94528306" "94528306" "del" "0" "00000" "ABCA4_002280" "g.94528306del" "" "{PMID:Weisschuh 2018:30576320}" "" "allele 1: c.1765del/p.W589Gfs*60, allele 2: c.1765del/p.W589Gfs*60" "heterozygous" "Germline" "?" "" "0" "" "" "g.94062750del" "" "likely pathogenic" "ACMG"
"0000797189" "0" "70" "1" "94476951" "94476951" "subst" "0.000236097" "00000" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Weisschuh 2018:30576320}" "" "allele 1: c.5461-10T>C/p.[T1821Vfs*13,T1821Dfs*6], allele 2: c.3377T>C/p.L1126P" "heterozygous" "Germline" "?" "" "0" "" "" "g.94011395A>G" "" "likely pathogenic" "ACMG"
"0000797190" "0" "50" "1" "94508386" "94508386" "subst" "1.62443E-5" "00000" "ABCA4_000642" "g.94508386C>T" "" "{PMID:Weisschuh 2018:30576320}" "" "allele 1: c.3259G>A/E1087K, allele 2: c.5917del/p.V1973*" "heterozygous" "Germline" "?" "" "0" "" "" "g.94042830C>T" "" "VUS" "ACMG"
"0000797191" "3" "70" "1" "94473278" "94473278" "del" "3.25908E-5" "00000" "ABCA4_000392" "g.94473278del" "" "{PMID:Weisschuh 2018:30576320}" "" "allele 1: c.5917del/p.V1973*, allele 2: c.5917del/p.V1973*" "homozygous" "Germline" "yes" "" "0" "" "" "g.94007722del" "" "likely pathogenic" "ACMG"
"0000797209" "0" "70" "1" "94528306" "94528306" "del" "0" "00000" "ABCA4_002280" "g.94528306del" "" "{PMID:Weisschuh 2018:30576320}" "" "allele 1: c.1765del/p.W589Gfs*60, allele 2: c.1765del/p.W589Gfs*60" "heterozygous" "Germline" "?" "" "0" "" "" "g.94062750del" "" "likely pathogenic" "ACMG"
"0000797210" "0" "50" "1" "94506910" "94506910" "subst" "4.06098E-6" "00000" "ABCA4_000105" "g.94506910A>G" "" "{PMID:Weisschuh 2018:30576320}" "" "allele 1: c.5461-10T>C/p.[T1821Vfs*13,T1821Dfs*6], allele 2: c.3377T>C/p.L1126P" "heterozygous" "Germline" "?" "" "0" "" "" "g.94041354A>G" "" "VUS" "ACMG"
"0000797211" "0" "70" "1" "94473278" "94473278" "del" "3.25908E-5" "00000" "ABCA4_000392" "g.94473278del" "" "{PMID:Weisschuh 2018:30576320}" "" "allele 1: c.3259G>A/E1087K, allele 2: c.5917del/p.V1973*" "heterozygous" "Germline" "?" "" "0" "" "" "g.94007722del" "" "likely pathogenic" "ACMG"
"0000797524" "3" "90" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Jespersgaar 2019:30718709}" "" "BBS4 c.1106+2T>A, p.(?), c.1106+2T>A, p.(?), ABCA4 c.5882G>A, p.(Gly1961Glu)" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "pathogenic" "ACMG"
"0000797629" "0" "70" "1" "94467548" "94467548" "subst" "0.00295661" "00000" "ABCA4_000788" "g.94467548C>G" "" "{PMID:Jespersgaar 2019:30718709}" "" "EYS c.4350_4356del, p.(Ile1451Profs*3), c.232del, p.(Cys78Alafs*7), ABCA4 c.6148G>C, p.(Val2050Leu)" "" "Germline" "?" "" "0" "" "" "g.94001992C>G" "" "likely pathogenic" "ACMG"
"0000797641" "0" "90" "1" "94473287" "94473287" "subst" "0.00293818" "00000" "ABCA4_000395" "g.94473287G>A" "" "{PMID:Jespersgaar 2019:30718709}" "" "EYS c.6714del, p.(Ile2239Serfs*17), c.6714del, p.(Ile2239Serfs*17), ABCA4 c.5908C>T, p.(Leu1970Phe)" "" "Germline" "?" "" "0" "" "" "g.94007731G>A" "" "pathogenic" "ACMG"
"0000797675" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Jespersgaar 2019:30718709}" "" "GUCA1A c.149C>T, p.(Pro50Leu), ABCA4 c.5882G>A(,), 3259G>A, p.(Gly1961Glu,Glu1087Lys)" "" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" "ACMG"
"0000797676" "0" "70" "1" "94508386" "94508386" "subst" "1.62443E-5" "00000" "ABCA4_000642" "g.94508386C>T" "" "{PMID:Jespersgaar 2019:30718709}" "" "GUCA1A c.149C>T, p.(Pro50Leu), ABCA4 c.5882G>A(,), 3259G>A, p.(Gly1961Glu,Glu1087Lys)" "" "Germline" "?" "" "0" "" "" "g.94042830C>T" "" "likely pathogenic" "ACMG"
"0000797762" "0" "70" "1" "94467466" "94467466" "subst" "8.12328E-6" "00000" "ABCA4_000779" "g.94467466C>T" "" "{PMID:Jespersgaar 2019:30718709}" "" "PRPH2,ROM1 c.623G>A, p.(Gly208Asp), ROM1 c.629A>T, p.(Asp210Val), ABCA4 c.6230G>A, p.(Arg2077Gln)" "" "Germline" "?" "" "0" "" "" "g.94001910C>T" "" "likely pathogenic" "ACMG"
"0000797765" "0" "50" "1" "94574258" "94574258" "subst" "0.00115728" "00000" "ABCA4_001132" "g.94574258T>A" "" "{PMID:Jespersgaar 2019:30718709}" "" "PRPF31 c.855+1G>T, p.(?), ABCA4 c.2588G>C, p.(Gly863Ala), c.317A>T, p.(Tyr106Phe)" "" "Germline" "?" "" "0" "" "" "g.94108702T>A" "" "VUS" "ACMG"
"0000797766" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "00000" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Jespersgaar 2019:30718709}" "" "PRPF31 c.855+1G>T, p.(?), ABCA4 c.2588G>C, p.(Gly863Ala), c.317A>T, p.(Tyr106Phe)" "" "Germline" "?" "" "0" "" "" "g.94051698C>G" "" "pathogenic" "ACMG"
"0000797768" "0" "90" "1" "94473287" "94473287" "subst" "0.00293818" "00000" "ABCA4_000395" "g.94473287G>A" "" "{PMID:Jespersgaar 2019:30718709}" "" "PRPH2 c.676C>T, p.(Gln226*), ABCA4 c.5908C>T, p.(Leu1970Phe)" "" "Germline" "?" "" "0" "" "" "g.94007731G>A" "" "pathogenic" "ACMG"
"0000797977" "0" "70" "1" "94564350" "94564350" "subst" "9.34268E-5" "00000" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Jespersgaar 2019:30718709}" "" "CNGA1 c.959C>T (pSer320Phe), ABCA4 c.768G>T, p.(Val256=), splice mutation" "" "Germline" "?" "" "0" "" "" "g.94098794C>A" "" "likely pathogenic" "ACMG"
"0000797997" "0" "90" "1" "94502706" "94502706" "subst" "0" "00000" "ABCA4_000597" "g.94502706C>A" "" "{PMID:Jespersgaar 2019:30718709}" "" "CRX c.425A>G, p.(Tyr142Cys), ABCA4 c.3808G>T, p.(Glu1270*)" "single heterozygous variant (recessive)" "Germline" "?" "" "0" "" "" "g.94037150C>A" "" "pathogenic" "ACMG"
"0000798130" "11" "50" "1" "94568675" "94568675" "subst" "0.00146249" "00000" "ABCA4_000210" "g.94568675T>C" "" "{PMID:Gonzalez del Pozo 2018:30190494}" "" "m4: c.466A > G; p.Ile156Val" "" "Germline" "yes" "" "0" "" "" "g.94103119T>C" "" "VUS" ""
"0000798133" "0" "50" "1" "94467548" "94467548" "subst" "0.00295661" "00000" "ABCA4_000788" "g.94467548C>G" "" "{PMID:Gonzalez del Pozo 2018:30190494}" "" "m6: c.6148G > C; p.Val2050Leu" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94001992C>G" "" "VUS" ""
"0000798167" "0" "50" "1" "94473808" "94473808" "subst" "8.52861E-5" "00000" "ABCA4_000196" "g.94473808C>T" "" "{PMID:Gonzalez del Pozo 2018:30190494}" "" "m26: c.5881G>A; p.Gly1961Arg" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94008252C>T" "" "VUS" ""
"0000798168" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Gonzalez del Pozo 2018:30190494}" "" "m28: c.5882G>A; p.Gly1961Glu" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000798170" "0" "50" "1" "94473287" "94473287" "subst" "0.00293818" "00000" "ABCA4_000395" "g.94473287G>A" "" "{PMID:Gonzalez del Pozo 2018:30190494}" "" "m29: c.5908C>T; p.Leu1970Phe" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94007731G>A" "" "VUS" ""
"0000798171" "0" "50" "1" "94467548" "94467548" "subst" "0.00295661" "00000" "ABCA4_000788" "g.94467548C>G" "" "{PMID:Gonzalez del Pozo 2018:30190494}" "" "m6: c.6148G > C; p.Val2050Leu" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94001992C>G" "" "VUS" ""
"0000798172" "11" "50" "1" "94467548" "94467548" "subst" "0.00295661" "00000" "ABCA4_000788" "g.94467548C>G" "" "{PMID:Gonzalez del Pozo 2018:30190494}" "" "m6: c.6148G > C; p.Val2050Leu" "" "Germline" "yes" "" "0" "" "" "g.94001992C>G" "" "VUS" ""
"0000798173" "11" "50" "1" "94584492" "94584492" "subst" "0" "00000" "ABCA4_002281" "g.94584492C>T" "" "{PMID:Gonzalez del Pozo 2018:30190494}" "" "m36: c.66+2044G>A; p.?" "" "Germline" "yes" "" "0" "" "" "g.94118936C>T" "" "VUS" ""
"0000798179" "21" "50" "1" "94568675" "94568675" "subst" "0.00146249" "00000" "ABCA4_000210" "g.94568675T>C" "" "{PMID:Gonzalez del Pozo 2018:30190494}" "" "m4: c.466A > G; p.Ile156Val" "" "Germline" "yes" "" "0" "" "" "g.94103119T>C" "" "VUS" ""
"0000798181" "21" "90" "1" "94508969" "94508969" "subst" "0.00168642" "03840" "ABCA4_000021" "g.94508969G>A" "0 (in-house database, ~5000 samples)" "{PMID:Tracewska 2019:31766579}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94043413G>A" "" "pathogenic" "ACMG"
"0000798182" "21" "90" "1" "94528806" "94528806" "subst" "0.000150298" "03840" "ABCA4_000020" "g.94528806A>G" "0,00308 (in-house database, ~5000 samples)" "{PMID:Tracewska 2019:31766579}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94063250A>G" "" "pathogenic" "ACMG"
"0000798183" "11" "90" "1" "94564484" "94564484" "subst" "0.000110199" "03840" "ABCA4_000036" "g.94564484G>A" "0,0001 (in-house database, ~5000 samples)" "{PMID:Tracewska 2019:31766579}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94098928G>A" "" "pathogenic" "ACMG"
"0000798184" "21" "90" "1" "94508969" "94508969" "subst" "0.00168642" "03840" "ABCA4_000021" "g.94508969G>A" "0 (in-house database, ~5000 samples)" "{PMID:Tracewska 2019:31766579}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94043413G>A" "" "pathogenic" "ACMG"
"0000798185" "21" "90" "1" "94528806" "94528806" "subst" "0.000150298" "03840" "ABCA4_000020" "g.94528806A>G" "0,00308 (in-house database, ~5000 samples)" "{PMID:Tracewska 2019:31766579}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94063250A>G" "" "pathogenic" "ACMG"
"0000798186" "11" "90" "1" "94564484" "94564484" "subst" "0.000110199" "03840" "ABCA4_000036" "g.94564484G>A" "0,0001 (in-house database, ~5000 samples)" "{PMID:Tracewska 2019:31766579}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94098928G>A" "" "pathogenic" "ACMG"
"0000798187" "11" "90" "1" "94476951" "94476951" "subst" "0.000236097" "03840" "ABCA4_000025" "g.94476951A>G" "0,0002 (in-house database, ~5000 samples)" "{PMID:Tracewska 2019:31766579}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94011395A>G" "" "pathogenic" "ACMG"
"0000798188" "21" "90" "1" "94495009" "94495009" "dup" "0" "03840" "ABCA4_000087" "g.94495009dup" "0 (in-house database, ~5000 samples)" "{PMID:Tracewska 2019:31766579}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94029453dup" "" "pathogenic" "ACMG"
"0000798189" "11" "90" "1" "94476951" "94476951" "subst" "0.000236097" "03840" "ABCA4_000025" "g.94476951A>G" "0,0002 (in-house database, ~5000 samples)" "{PMID:Tracewska 2019:31766579}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94011395A>G" "" "pathogenic" "ACMG"
"0000798190" "21" "90" "1" "94495009" "94495009" "dup" "0" "03840" "ABCA4_000087" "g.94495009dup" "0 (in-house database, ~5000 samples)" "{PMID:Tracewska 2019:31766579}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94029453dup" "" "pathogenic" "ACMG"
"0000798191" "11" "90" "1" "94476951" "94476951" "subst" "0.000236097" "03840" "ABCA4_000025" "g.94476951A>G" "0,0002 (in-house database, ~5000 samples)" "{PMID:Tracewska 2019:31766579}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94011395A>G" "" "pathogenic" "ACMG"
"0000798192" "21" "90" "1" "94495009" "94495009" "dup" "0" "03840" "ABCA4_000087" "g.94495009dup" "0 (in-house database, ~5000 samples)" "{PMID:Tracewska 2019:31766579}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94029453dup" "" "pathogenic" "ACMG"
"0000798193" "2" "90" "1" "94508969" "94508969" "subst" "0.00168642" "03840" "ABCA4_000021" "g.94508969G>A" "0 (in-house database, ~5000 samples)" "{PMID:Tracewska 2019:31766579}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94043413G>A" "" "pathogenic" "ACMG"
"0000798194" "2" "90" "1" "94528806" "94528806" "subst" "0.000150298" "03840" "ABCA4_000020" "g.94528806A>G" "0,00308 (in-house database, ~5000 samples)" "{PMID:Tracewska 2019:31766579}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94063250A>G" "" "pathogenic" "ACMG"
"0000798195" "11" "50" "1" "94476467" "94476467" "subst" "0.0424562" "03840" "ABCA4_000007" "g.94476467T>A" "0,065 (in-house database, ~5000 samples)" "{PMID:Tracewska 2019:31766579}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000798196" "10" "70" "1" "94473807" "94473807" "subst" "0.00480453" "03840" "ABCA4_000046" "g.94473807C>T" "0,00642 (in-house database, ~5000 samples)" "{PMID:Tracewska 2019:31766579}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" "ACMG"
"0000798197" "21" "90" "1" "94496571" "94496571" "subst" "4.06174E-6" "03840" "ABCA4_000111" "g.94496571G>A" "0,00082 (in-house database, ~5000 samples)" "{PMID:Tracewska 2019:31766579}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94031015G>A" "" "pathogenic" "ACMG"
"0000798198" "0" "90" "1" "94496571" "94496571" "subst" "4.06174E-6" "03840" "ABCA4_000111" "g.94496571G>A" "0,00082 (in-house database, ~5000 samples)" "{PMID:Tracewska 2019:31766579}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94031015G>A" "" "likely pathogenic (recessive)" "ACMG"
"0000798199" "11" "90" "1" "94476351" "94476351" "subst" "0.000296608" "03840" "ABCA4_000996" "g.94476351C>T" "0,00061 (in-house database, ~5000 samples)" "{PMID:Tracewska 2019:31766579}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94010795C>T" "" "pathogenic" "ACMG"
"0000798200" "21" "90" "1" "94508969" "94508969" "subst" "0.00168642" "03840" "ABCA4_000021" "g.94508969G>A" "0 (in-house database, ~5000 samples)" "{PMID:Tracewska 2019:31766579}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94043413G>A" "" "pathogenic" "ACMG"
"0000798201" "21" "90" "1" "94528806" "94528806" "subst" "0.000150298" "03840" "ABCA4_000020" "g.94528806A>G" "0,00308 (in-house database, ~5000 samples)" "{PMID:Tracewska 2019:31766579}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94063250A>G" "" "pathogenic" "ACMG"
"0000798202" "21" "90" "1" "94508969" "94508969" "subst" "0.00168642" "03840" "ABCA4_000021" "g.94508969G>A" "0 (in-house database, ~5000 samples)" "{PMID:Tracewska 2019:31766579}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94043413G>A" "" "pathogenic" "ACMG"
"0000798203" "11" "90" "1" "94476351" "94476351" "subst" "0.000296608" "03840" "ABCA4_000996" "g.94476351C>T" "0,00061 (in-house database, ~5000 samples)" "{PMID:Tracewska 2019:31766579}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94010795C>T" "" "pathogenic" "ACMG"
"0000798204" "21" "90" "1" "94528806" "94528806" "subst" "0.000150298" "03840" "ABCA4_000020" "g.94528806A>G" "0,00308 (in-house database, ~5000 samples)" "{PMID:Tracewska 2019:31766579}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94063250A>G" "" "pathogenic" "ACMG"
"0000798205" "21" "70" "1" "94517254" "94517254" "subst" "0.00442654" "03840" "ABCA4_000034" "g.94517254C>G" "0,00317 (in-house database, ~5000 samples)" "{PMID:Tracewska 2019:31766579}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic" "ACMG"
"0000798206" "11" "70" "1" "94577102" "94577102" "subst" "4.06161E-6" "03840" "ABCA4_000033" "g.94577102C>T" "0 (in-house database, ~5000 samples)" "{PMID:Tracewska 2019:31766579}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94111546C>T" "" "likely pathogenic" "ACMG"
"0000798207" "3" "90" "1" "94508969" "94508969" "subst" "0.00168642" "03840" "ABCA4_000021" "g.94508969G>A" "0,00308 (in-house database, ~5000 samples)" "{PMID:Tracewska 2019:31766579}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94043413G>A" "" "pathogenic" "ACMG"
"0000798208" "3" "90" "1" "94528806" "94528806" "subst" "0.000150298" "03840" "ABCA4_000020" "g.94528806A>G" "0,00308 (in-house database, ~5000 samples)" "{PMID:Tracewska 2019:31766579}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94063250A>G" "" "pathogenic" "ACMG"
"0000798209" "11" "70" "1" "94473807" "94473807" "subst" "0.00480453" "03840" "ABCA4_000046" "g.94473807C>T" "0,00642 (in-house database, ~5000 samples)" "{PMID:Tracewska 2019:31766579}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" "ACMG"
"0000798210" "21" "70" "1" "94577102" "94577102" "subst" "4.06161E-6" "03840" "ABCA4_000033" "g.94577102C>T" "0 (in-house database, ~5000 samples)" "{PMID:Tracewska 2019:31766579}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94111546C>T" "" "likely pathogenic" "ACMG"
"0000798211" "11" "90" "1" "94508969" "94508969" "subst" "0.00168642" "03840" "ABCA4_000021" "g.94508969G>A" "0 (in-house database, ~5000 samples)" "{PMID:Tracewska 2019:31766579}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94043413G>A" "" "pathogenic" "ACMG"
"0000798212" "3" "90" "1" "94528806" "94528806" "subst" "0.000150298" "03840" "ABCA4_000020" "g.94528806A>G" "0,00308 (in-house database, ~5000 samples)" "{PMID:Tracewska 2019:31766579}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94063250A>G" "" "pathogenic" "ACMG"
"0000798213" "11" "90" "1" "94508969" "94508969" "subst" "0.00168642" "03840" "ABCA4_000021" "g.94508969G>A" "0 (in-house database, ~5000 samples)" "{PMID:Tracewska 2019:31766579}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94043413G>A" "" "pathogenic" "ACMG"
"0000798214" "21" "90" "1" "94526212" "94526212" "subst" "1.22012E-5" "03840" "ABCA4_000075" "g.94526212G>A" "0 (in-house database, ~5000 samples)" "{PMID:Tracewska 2019:31766579}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94060656G>A" "" "pathogenic" "ACMG"
"0000798215" "11" "90" "1" "94528806" "94528806" "subst" "0.000150298" "03840" "ABCA4_000020" "g.94528806A>G" "0,00308 (in-house database, ~5000 samples)" "{PMID:Tracewska 2019:31766579}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94063250A>G" "" "pathogenic" "ACMG"
"0000798216" "21" "90" "1" "94473807" "94473807" "subst" "0.00480453" "03840" "ABCA4_000046" "g.94473807C>T" "0,00642 (in-house database, ~5000 samples)" "{PMID:Tracewska 2019:31766579}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" "ACMG"
"0000798217" "11" "70" "1" "94476385" "94476386" "del" "0" "03840" "ABCA4_002278" "g.94476385_94476386del" "0 (in-house database, ~5000 samples)" "{PMID:Tracewska 2019:31766579}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94010829_94010830del" "" "pathogenic" "ACMG"
"0000798218" "21" "70" "1" "94508969" "94508969" "subst" "0.00168642" "03840" "ABCA4_000021" "g.94508969G>A" "0 (in-house database, ~5000 samples)" "{PMID:Tracewska 2019:31766579}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic" "ACMG"
"0000798219" "11" "90" "1" "94495078" "94495078" "subst" "8.37044E-6" "03840" "ABCA4_000042" "g.94495078A>G" "0 (in-house database, ~5000 samples)" "{PMID:Tracewska 2019:31766579}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94029522A>G" "" "pathogenic" "ACMG"
"0000798220" "21" "90" "1" "94528806" "94528806" "subst" "0.000150298" "03840" "ABCA4_000020" "g.94528806A>G" "0,00308 (in-house database, ~5000 samples)" "{PMID:Tracewska 2019:31766579}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94063250A>G" "" "pathogenic" "ACMG"
"0000798221" "11" "70" "1" "94544906" "94544906" "subst" "4.06144E-6" "03840" "ABCA4_001478" "g.94544906G>C" "0 (in-house database, ~5000 samples)" "{PMID:Tracewska 2019:31766579}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94079350G>C" "" "likely pathogenic" "ACMG"
"0000798222" "21" "90" "1" "94473807" "94473807" "subst" "0.00480453" "03840" "ABCA4_000046" "g.94473807C>T" "0,00642 (in-house database, ~5000 samples)" "{PMID:Tracewska 2019:31766579}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "pathogenic" "ACMG"
"0000798223" "21" "50" "1" "94467548" "94467548" "subst" "0.00295661" "03840" "ABCA4_000788" "g.94467548C>G" "0,0000042 (in-house database, ~5000 samples)" "{PMID:Tracewska 2019:31766579}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94001992C>G" "" "VUS" "ACMG"
"0000798224" "11" "90" "1" "94517254" "94517254" "subst" "0.00442654" "03840" "ABCA4_000034" "g.94517254C>G" "0,00317 (in-house database, ~5000 samples)" "{PMID:Tracewska 2019:31766579}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic" "ACMG"
"0000798225" "21" "70" "1" "94568687" "94568687" "subst" "1.62641E-5" "03840" "ABCA4_000024" "g.94568687G>A" "0,00041 (in-house database, ~5000 samples)" "{PMID:Tracewska 2019:31766579}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94103131G>A" "" "pathogenic" "ACMG"
"0000798226" "11" "90" "1" "94517216" "94517216" "subst" "0" "03840" "ABCA4_001429" "g.94517216G>A" "0 (in-house database, ~5000 samples)" "{PMID:Tracewska 2019:31766579}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94051660G>A" "" "pathogenic" "ACMG"
"0000798227" "21" "90" "1" "94485137" "94485137" "subst" "0" "03840" "ABCA4_000464" "g.94485137C>T" "0,0001 (in-house database, ~5000 samples)" "{PMID:Tracewska 2019:31766579}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94019581C>T" "" "pathogenic" "ACMG"
"0000798228" "11" "90" "1" "94508969" "94508969" "subst" "0.00168642" "03840" "ABCA4_000021" "g.94508969G>A" "0 (in-house database, ~5000 samples)" "{PMID:Tracewska 2019:31766579}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic" "ACMG"
"0000798229" "21" "90" "1" "94509026" "94509026" "subst" "4.06497E-5" "03840" "ABCA4_000660" "g.94509026G>A" "0 (in-house database, ~5000 samples)" "{PMID:Tracewska 2019:31766579}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94043470G>A" "" "pathogenic" "ACMG"
"0000798230" "11" "70" "1" "94528806" "94528806" "subst" "0.000150298" "03840" "ABCA4_000020" "g.94528806A>G" "0,00308 (in-house database, ~5000 samples)" "{PMID:Tracewska 2019:31766579}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94063250A>G" "" "pathogenic" "ACMG"
"0000798231" "3" "90" "1" "94508969" "94508969" "subst" "0.00168642" "03840" "ABCA4_000021" "g.94508969G>A" "0 (in-house database, ~5000 samples)" "{PMID:Tracewska 2019:31766579}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94043413G>A" "" "pathogenic" "ACMG"
"0000798232" "3" "70" "1" "94528806" "94528806" "subst" "0.000150298" "03840" "ABCA4_000020" "g.94528806A>G" "0,00308 (in-house database, ~5000 samples)" "{PMID:Tracewska 2019:31766579}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94063250A>G" "" "pathogenic" "ACMG"
"0000798233" "21" "90" "1" "94496571" "94496571" "subst" "4.06174E-6" "03840" "ABCA4_000111" "g.94496571G>A" "0,00082 (in-house database, ~5000 samples)" "{PMID:Tracewska 2019:31766579}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94031015G>A" "" "pathogenic" "ACMG"
"0000798234" "11" "50" "1" "94564408" "94564408" "subst" "4.06128E-6" "03840" "ABCA4_001066" "g.94564408A>G" "0 (in-house database, ~5000 samples)" "{PMID:Tracewska 2019:31766579}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94098852A>G" "" "VUS" "ACMG"
"0000798235" "21" "90" "1" "94458393" "94514514" "del" "0" "03840" "ABCA4_002592" "g.(?_94458393)_(94514514_94517188)del" "0 (in-house database, ~5000 samples)" "{PMID:Tracewska 2019:31766579}" "" "" "" "Germline" "yes" "" "0" "" "" "g.(?_93992837)_(94048958_94051632)del" "" "pathogenic" "ACMG"
"0000798236" "11" "50" "1" "94476467" "94476467" "subst" "0.0424562" "03840" "ABCA4_000007" "g.94476467T>A" "0,065 (in-house database, ~5000 samples)" "{PMID:Tracewska 2019:31766579}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000798237" "11" "90" "1" "94517254" "94517254" "subst" "0.00442654" "03840" "ABCA4_000034" "g.94517254C>G" "0,00317 (in-house database, ~5000 samples)" "{PMID:Tracewska 2019:31766579}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94051698C>G" "" "pathogenic" "ACMG"
"0000798238" "11" "90" "1" "94508969" "94508969" "subst" "0.00168642" "03840" "ABCA4_000021" "g.94508969G>A" "0 (in-house database, ~5000 samples)" "{PMID:Tracewska 2019:31766579}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94043413G>A" "" "pathogenic" "ACMG"
"0000798239" "21" "70" "1" "94496666" "94496666" "subst" "0.000219568" "03840" "ABCA4_000019" "g.94496666G>A" "0,0002 (in-house database, ~5000 samples)" "{PMID:Tracewska 2019:31766579}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic" "ACMG"
"0000798240" "11" "90" "1" "94528806" "94528806" "subst" "0.000150298" "03840" "ABCA4_000020" "g.94528806A>G" "0,00308 (in-house database, ~5000 samples)" "{PMID:Tracewska 2019:31766579}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94063250A>G" "" "pathogenic" "ACMG"
"0000798241" "11" "90" "1" "94508969" "94508969" "subst" "0.00168642" "03840" "ABCA4_000021" "g.94508969G>A" "0 (in-house database, ~5000 samples)" "{PMID:Tracewska 2019:31766579}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94043413G>A" "" "pathogenic" "ACMG"
"0000798242" "21" "90" "1" "94496571" "94496571" "subst" "4.06174E-6" "03840" "ABCA4_000111" "g.94496571G>A" "0,00082 (in-house database, ~5000 samples)" "{PMID:Tracewska 2019:31766579}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94031015G>A" "" "pathogenic" "ACMG"
"0000798243" "11" "90" "1" "94528806" "94528806" "subst" "0.000150298" "03840" "ABCA4_000020" "g.94528806A>G" "0,00308 (in-house database, ~5000 samples)" "{PMID:Tracewska 2019:31766579}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94063250A>G" "" "pathogenic" "ACMG"
"0000798244" "11" "90" "1" "94506874" "94506874" "subst" "0" "03840" "ABCA4_001900" "g.94506874A>T" "0 (in-house database, ~5000 samples)" "{PMID:Tracewska 2019:31766579}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94041318A>T" "" "pathogenic" "ACMG"
"0000798245" "21" "90" "1" "94586541" "94586541" "subst" "4.0624E-6" "03840" "ABCA4_000256" "g.94586541G>A" "0 (in-house database, ~5000 samples)" "{PMID:Tracewska 2019:31766579}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94120985G>A" "" "pathogenic" "ACMG"
"0000798246" "3" "90" "1" "94508969" "94508969" "subst" "0.00168642" "03840" "ABCA4_000021" "g.94508969G>A" "0 (in-house database, ~5000 samples)" "{PMID:Tracewska 2019:31766579}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94043413G>A" "" "pathogenic" "ACMG"
"0000798247" "3" "90" "1" "94528806" "94528806" "subst" "0.000150298" "03840" "ABCA4_000020" "g.94528806A>G" "0,00308 (in-house database, ~5000 samples)" "{PMID:Tracewska 2019:31766579}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94063250A>G" "" "pathogenic" "ACMG"
"0000798248" "11" "90" "1" "94496571" "94496571" "subst" "4.06174E-6" "03840" "ABCA4_000111" "g.94496571G>A" "0,00082 (in-house database, ~5000 samples)" "{PMID:Tracewska 2019:31766579}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94031015G>A" "" "pathogenic" "ACMG"
"0000798249" "21" "90" "1" "94506923" "94506923" "subst" "0" "03840" "ABCA4_002279" "g.94506923C>A" "0 (in-house database, ~5000 samples)" "{PMID:Tracewska 2019:31766579}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94041367C>A" "" "pathogenic" "ACMG"
"0000798250" "21" "70" "1" "94473807" "94473807" "subst" "0.00480453" "03840" "ABCA4_000046" "g.94473807C>T" "0,00642 (in-house database, ~5000 samples)" "{PMID:Tracewska 2019:31766579}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" "ACMG"
"0000798251" "11" "90" "1" "94496571" "94496571" "subst" "4.06174E-6" "03840" "ABCA4_000111" "g.94496571G>A" "0,00082 (in-house database, ~5000 samples)" "{PMID:Tracewska 2019:31766579}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94031015G>A" "" "pathogenic" "ACMG"
"0000798252" "21" "90" "1" "94568687" "94568687" "subst" "1.62641E-5" "03840" "ABCA4_000024" "g.94568687G>A" "0,00041 (in-house database, ~5000 samples)" "{PMID:Tracewska 2019:31766579}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94103131G>A" "" "pathogenic" "ACMG"
"0000798253" "11" "70" "1" "94586536" "94586536" "subst" "0" "03840" "ABCA4_000255" "g.94586536C>T" "0 (in-house database, ~5000 samples)" "{PMID:Tracewska 2019:31766579}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94120980C>T" "" "likely pathogenic" "ACMG"
"0000798254" "21" "90" "1" "94508969" "94508969" "subst" "0.00168642" "03840" "ABCA4_000021" "g.94508969G>A" "0 (in-house database, ~5000 samples)" "{PMID:Tracewska 2019:31766579}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94043413G>A" "" "pathogenic" "ACMG"
"0000798255" "11" "90" "1" "94496571" "94496571" "subst" "4.06174E-6" "03840" "ABCA4_000111" "g.94496571G>A" "0,00082 (in-house database, ~5000 samples)" "{PMID:Tracewska 2019:31766579}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94031015G>A" "" "pathogenic" "ACMG"
"0000798256" "21" "90" "1" "94528806" "94528806" "subst" "0.000150298" "03840" "ABCA4_000020" "g.94528806A>G" "0,00308 (in-house database, ~5000 samples)" "{PMID:Tracewska 2019:31766579}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94063250A>G" "" "pathogenic" "ACMG"
"0000798257" "3" "90" "1" "94485137" "94485137" "subst" "0" "03840" "ABCA4_000464" "g.94485137C>T" "0,0001 (in-house database, ~5000 samples)" "{PMID:Tracewska 2019:31766579}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94019581C>T" "" "pathogenic" "ACMG"
"0000798258" "3" "90" "1" "94485137" "94485137" "subst" "0" "03840" "ABCA4_000464" "g.94485137C>T" "0,0001 (in-house database, ~5000 samples)" "{PMID:Tracewska 2019:31766579}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94019581C>T" "" "pathogenic" "ACMG"
"0000798259" "3" "90" "1" "94508969" "94508969" "subst" "0.00168642" "03840" "ABCA4_000021" "g.94508969G>A" "0 (in-house database, ~5000 samples)" "{PMID:Tracewska 2019:31766579}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94043413G>A" "" "pathogenic" "ACMG"
"0000798260" "3" "90" "1" "94528806" "94528806" "subst" "0.000150298" "03840" "ABCA4_000020" "g.94528806A>G" "0,00308 (in-house database, ~5000 samples)" "{PMID:Tracewska 2019:31766579}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94063250A>G" "" "pathogenic" "ACMG"
"0000798261" "3" "90" "1" "94508969" "94508969" "subst" "0.00168642" "03840" "ABCA4_000021" "g.94508969G>A" "0 (in-house database, ~5000 samples)" "{PMID:Tracewska 2019:31766579}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94043413G>A" "" "pathogenic" "ACMG"
"0000798262" "3" "90" "1" "94528806" "94528806" "subst" "0.000150298" "03840" "ABCA4_000020" "g.94528806A>G" "0,00308 (in-house database, ~5000 samples)" "{PMID:Tracewska 2019:31766579}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94063250A>G" "" "pathogenic" "ACMG"
"0000798263" "11" "90" "1" "94508969" "94508969" "subst" "0.00168642" "03840" "ABCA4_000021" "g.94508969G>A" "0 (in-house database, ~5000 samples)" "{PMID:Tracewska 2019:31766579}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94043413G>A" "" "pathogenic" "ACMG"
"0000798264" "20" "90" "1" "94473807" "94473807" "subst" "0.00480453" "03840" "ABCA4_000046" "g.94473807C>T" "0,00642 (in-house database, ~5000 samples)" "{PMID:Tracewska 2019:31766579}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "pathogenic" "ACMG"
"0000798265" "11" "90" "1" "94528806" "94528806" "subst" "0.000150298" "03840" "ABCA4_000020" "g.94528806A>G" "0,00308 (in-house database, ~5000 samples)" "{PMID:Tracewska 2019:31766579}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94063250A>G" "" "pathogenic" "ACMG"
"0000798266" "11" "90" "1" "94508969" "94508969" "subst" "0.00168642" "03840" "ABCA4_000021" "g.94508969G>A" "0 (in-house database, ~5000 samples)" "{PMID:Tracewska 2019:31766579}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94043413G>A" "" "pathogenic" "ACMG"
"0000798267" "21" "90" "1" "94473807" "94473807" "subst" "0.00480453" "03840" "ABCA4_000046" "g.94473807C>T" "0,00642 (in-house database, ~5000 samples)" "{PMID:Tracewska 2019:31766579}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "pathogenic" "ACMG"
"0000798268" "11" "90" "1" "94528806" "94528806" "subst" "0.000150298" "03840" "ABCA4_000020" "g.94528806A>G" "0,00308 (in-house database, ~5000 samples)" "{PMID:Tracewska 2019:31766579}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94063250A>G" "" "pathogenic" "ACMG"
"0000798269" "21" "90" "1" "94508969" "94508969" "subst" "0.00168642" "03840" "ABCA4_000021" "g.94508969G>A" "0 (in-house database, ~5000 samples)" "{PMID:Tracewska 2019:31766579}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94043413G>A" "" "pathogenic" "ACMG"
"0000798270" "11" "90" "1" "94476351" "94476351" "subst" "0.000296608" "03840" "ABCA4_000996" "g.94476351C>T" "0,00061 (in-house database, ~5000 samples)" "{PMID:Tracewska 2019:31766579}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94010795C>T" "" "pathogenic" "ACMG"
"0000798271" "21" "90" "1" "94528806" "94528806" "subst" "0.000150298" "03840" "ABCA4_000020" "g.94528806A>G" "0,00308 (in-house database, ~5000 samples)" "{PMID:Tracewska 2019:31766579}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94063250A>G" "" "pathogenic" "ACMG"
"0000798272" "11" "90" "1" "94496571" "94496571" "subst" "4.06174E-6" "03840" "ABCA4_000111" "g.94496571G>A" "0,00082 (in-house database, ~5000 samples)" "{PMID:Tracewska 2019:31766579}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94031015G>A" "" "pathogenic" "ACMG"
"0000798273" "20" "90" "1" "94517254" "94517254" "subst" "0.00442654" "03840" "ABCA4_000034" "g.94517254C>G" "0,00317 (in-house database, ~5000 samples)" "{PMID:Tracewska 2019:31766579}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94051698C>G" "" "pathogenic" "ACMG"
"0000798274" "21" "90" "1" "94496571" "94496571" "subst" "4.06174E-6" "03840" "ABCA4_000111" "g.94496571G>A" "0,00082 (in-house database, ~5000 samples)" "{PMID:Tracewska 2019:31766579}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94031015G>A" "" "pathogenic" "ACMG"
"0000798275" "11" "50" "1" "94528774" "94528774" "subst" "0.00264827" "03840" "ABCA4_000298" "g.94528774C>T" "0,01 (in-house database, ~5000 samples)" "{PMID:Tracewska 2019:31766579}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94063218C>T" "" "VUS" "ACMG"
"0000798276" "3" "70" "1" "94476467" "94476467" "subst" "0.0424562" "03840" "ABCA4_000007" "g.94476467T>A" "0,065 (in-house database, ~5000 samples)" "{PMID:Tracewska 2019:31766579}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic" "ACMG"
"0000798277" "11" "90" "1" "94476951" "94476951" "subst" "0.000236097" "03840" "ABCA4_000025" "g.94476951A>G" "0,0002 (in-house database, ~5000 samples)" "{PMID:Tracewska 2019:31766579}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94011395A>G" "" "pathogenic" "ACMG"
"0000798278" "21" "90" "1" "94517254" "94517254" "subst" "0.00442654" "03840" "ABCA4_000034" "g.94517254C>G" "0,00317 (in-house database, ~5000 samples)" "{PMID:Tracewska 2019:31766579}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94051698C>G" "" "pathogenic" "ACMG"
"0000798279" "3" "70" "1" "94476467" "94476467" "subst" "0.0424562" "03840" "ABCA4_000007" "g.94476467T>A" "0,065 (in-house database, ~5000 samples)" "{PMID:Tracewska 2019:31766579}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic" "ACMG"
"0000798280" "11" "90" "1" "94476951" "94476951" "subst" "0.000236097" "03840" "ABCA4_000025" "g.94476951A>G" "0,0002 (in-house database, ~5000 samples)" "{PMID:Tracewska 2019:31766579}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94011395A>G" "" "pathogenic" "ACMG"
"0000798281" "21" "90" "1" "94517254" "94517254" "subst" "0.00442654" "03840" "ABCA4_000034" "g.94517254C>G" "0,00317 (in-house database, ~5000 samples)" "{PMID:Tracewska 2019:31766579}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94051698C>G" "" "pathogenic" "ACMG"
"0000798282" "21" "90" "1" "94508969" "94508969" "subst" "0.00168642" "03840" "ABCA4_000021" "g.94508969G>A" "0 (in-house database, ~5000 samples)" "{PMID:Tracewska 2019:31766579}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94043413G>A" "" "pathogenic" "ACMG"
"0000798283" "11" "70" "1" "94473807" "94473807" "subst" "0.00480453" "03840" "ABCA4_000046" "g.94473807C>T" "0,00642 (in-house database, ~5000 samples)" "{PMID:Tracewska 2019:31766579}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" "ACMG"
"0000798284" "21" "90" "1" "94528806" "94528806" "subst" "0.000150298" "03840" "ABCA4_000020" "g.94528806A>G" "0,00308 (in-house database, ~5000 samples)" "{PMID:Tracewska 2019:31766579}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94063250A>G" "" "pathogenic" "ACMG"
"0000798285" "21" "90" "1" "94508969" "94508969" "subst" "0.00168642" "03840" "ABCA4_000021" "g.94508969G>A" "0 (in-house database, ~5000 samples)" "{PMID:Tracewska 2019:31766579}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94043413G>A" "" "pathogenic" "ACMG"
"0000798286" "11" "90" "1" "94496571" "94496571" "subst" "4.06174E-6" "03840" "ABCA4_000111" "g.94496571G>A" "0,00082 (in-house database, ~5000 samples)" "{PMID:Tracewska 2019:31766579}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94031015G>A" "" "pathogenic" "ACMG"
"0000798287" "21" "90" "1" "94528806" "94528806" "subst" "0.000150298" "03840" "ABCA4_000020" "g.94528806A>G" "0,00308 (in-house database, ~5000 samples)" "{PMID:Tracewska 2019:31766579}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94063250A>G" "" "pathogenic" "ACMG"
"0000798288" "21" "90" "1" "94508969" "94508969" "subst" "0.00168642" "03840" "ABCA4_000021" "g.94508969G>A" "0 (in-house database, ~5000 samples)" "{PMID:Tracewska 2019:31766579}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94043413G>A" "" "pathogenic" "ACMG"
"0000798289" "11" "90" "1" "94496571" "94496571" "subst" "4.06174E-6" "03840" "ABCA4_000111" "g.94496571G>A" "0,00082 (in-house database, ~5000 samples)" "{PMID:Tracewska 2019:31766579}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94031015G>A" "" "pathogenic" "ACMG"
"0000798290" "21" "90" "1" "94528806" "94528806" "subst" "0.000150298" "03840" "ABCA4_000020" "g.94528806A>G" "0,00308 (in-house database, ~5000 samples)" "{PMID:Tracewska 2019:31766579}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94063250A>G" "" "pathogenic" "ACMG"
"0000798291" "11" "70" "1" "94486895" "94486895" "subst" "3.24923E-5" "03840" "ABCA4_000484" "g.94486895C>T" "0 (in-house database, ~5000 samples)" "{PMID:Tracewska 2019:31766579}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94021339C>T" "" "likely pathogenic" "ACMG"
"0000798292" "21" "70" "1" "94506874" "94506874" "subst" "0" "03840" "ABCA4_001900" "g.94506874A>T" "0 (in-house database, ~5000 samples)" "{PMID:Tracewska 2019:31766579}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94041318A>T" "" "likely pathogenic" "ACMG"
"0000798293" "3" "90" "1" "94528806" "94528806" "subst" "0.000150298" "03840" "ABCA4_000020" "g.94528806A>G" "0,00308 (in-house database, ~5000 samples)" "{PMID:Tracewska 2019:31766579}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94063250A>G" "" "pathogenic" "ACMG"
"0000798294" "21" "90" "1" "94508969" "94508969" "subst" "0.00168642" "03840" "ABCA4_000021" "g.94508969G>A" "0 (in-house database, ~5000 samples)" "{PMID:Tracewska 2019:31766579}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94043413G>A" "" "pathogenic" "ACMG"
"0000798295" "21" "90" "1" "94508969" "94508969" "subst" "0.00168642" "03840" "ABCA4_000021" "g.94508969G>A" "0 (in-house database, ~5000 samples)" "{PMID:Tracewska 2019:31766579}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94043413G>A" "" "pathogenic" "ACMG"
"0000798296" "3" "90" "1" "94528806" "94528806" "subst" "0.000150298" "03840" "ABCA4_000020" "g.94528806A>G" "0,00308 (in-house database, ~5000 samples)" "{PMID:Tracewska 2019:31766579}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94063250A>G" "" "pathogenic" "ACMG"
"0000798297" "21" "90" "1" "94508969" "94508969" "subst" "0.00168642" "03840" "ABCA4_000021" "g.94508969G>A" "0 (in-house database, ~5000 samples)" "{PMID:Tracewska 2019:31766579}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94043413G>A" "" "pathogenic" "ACMG"
"0000798298" "11" "70" "1" "94473807" "94473807" "subst" "0.00480453" "03840" "ABCA4_000046" "g.94473807C>T" "0,00642 (in-house database, ~5000 samples)" "{PMID:Tracewska 2019:31766579}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" "ACMG"
"0000798299" "21" "90" "1" "94528806" "94528806" "subst" "0.000150298" "03840" "ABCA4_000020" "g.94528806A>G" "0,00308 (in-house database, ~5000 samples)" "{PMID:Tracewska 2019:31766579}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94063250A>G" "" "pathogenic" "ACMG"
"0000798300" "21" "90" "1" "94508969" "94508969" "subst" "0.00168642" "03840" "ABCA4_000021" "g.94508969G>A" "0 (in-house database, ~5000 samples)" "{PMID:Tracewska 2019:31766579}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94043413G>A" "" "pathogenic" "ACMG"
"0000798301" "11" "70" "1" "94485137" "94485137" "subst" "0" "03840" "ABCA4_000464" "g.94485137C>T" "0,0001 (in-house database, ~5000 samples)" "{PMID:Tracewska 2019:31766579}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94019581C>T" "" "pathogenic" "ACMG"
"0000798302" "21" "90" "1" "94528806" "94528806" "subst" "0.000150298" "03840" "ABCA4_000020" "g.94528806A>G" "0,00308 (in-house database, ~5000 samples)" "{PMID:Tracewska 2019:31766579}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94063250A>G" "" "pathogenic" "ACMG"
"0000798303" "11" "90" "1" "94476351" "94476351" "subst" "0.000296608" "03840" "ABCA4_000996" "g.94476351C>T" "0,00061 (in-house database, ~5000 samples)" "{PMID:Tracewska 2019:31766579}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94010795C>T" "" "pathogenic" "ACMG"
"0000798304" "21" "90" "1" "94508386" "94508386" "subst" "1.62443E-5" "03840" "ABCA4_000642" "g.94508386C>T" "0,0002 (in-house database, ~5000 samples)" "{PMID:Tracewska 2019:31766579}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94042830C>T" "" "pathogenic" "ACMG"
"0000798305" "3" "90" "1" "94508969" "94508969" "subst" "0.00168642" "03840" "ABCA4_000021" "g.94508969G>A" "0 (in-house database, ~5000 samples)" "{PMID:Tracewska 2019:31766579}" "" "" "" "Germline" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic" "ACMG"
"0000798306" "3" "90" "1" "94528806" "94528806" "subst" "0.000150298" "03840" "ABCA4_000020" "g.94528806A>G" "0,00308 (in-house database, ~5000 samples)" "{PMID:Tracewska 2019:31766579}" "" "" "" "Germline" "" "" "0" "" "" "g.94063250A>G" "" "pathogenic" "ACMG"
"0000798307" "0" "90" "1" "94508384" "94508384" "subst" "0" "03840" "ABCA4_000641" "g.94508384T>G" "0 (in-house database, ~5000 samples)" "{PMID:Tracewska 2019:31766579}" "" "" "" "Germline" "" "" "0" "" "" "g.94042828T>G" "" "pathogenic" "ACMG"
"0000798308" "11" "90" "1" "94508969" "94508969" "subst" "0.00168642" "03840" "ABCA4_000021" "g.94508969G>A" "0 (in-house database, ~5000 samples)" "{PMID:Tracewska 2019:31766579}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94043413G>A" "" "pathogenic" "ACMG"
"0000798309" "21" "90" "1" "94496571" "94496571" "subst" "4.06174E-6" "03840" "ABCA4_000111" "g.94496571G>A" "0,00082 (in-house database, ~5000 samples)" "{PMID:Tracewska 2019:31766579}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94031015G>A" "" "pathogenic" "ACMG"
"0000798310" "11" "90" "1" "94528806" "94528806" "subst" "0.000150298" "03840" "ABCA4_000020" "g.94528806A>G" "0,00308 (in-house database, ~5000 samples)" "{PMID:Tracewska 2019:31766579}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94063250A>G" "" "pathogenic" "ACMG"
"0000798311" "20" "90" "1" "94476351" "94476351" "subst" "0.000296608" "03840" "ABCA4_000996" "g.94476351C>T" "0,00061 (in-house database, ~5000 samples)" "{PMID:Tracewska 2019:31766579}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94010795C>T" "" "pathogenic" "ACMG"
"0000798312" "11" "90" "1" "94496571" "94496571" "subst" "4.06174E-6" "03840" "ABCA4_000111" "g.94496571G>A" "0,00082 (in-house database, ~5000 samples)" "{PMID:Tracewska 2019:31766579}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94031015G>A" "" "pathogenic" "ACMG"
"0000798313" "2" "90" "1" "94485137" "94485137" "subst" "0" "03840" "ABCA4_000464" "g.94485137C>T" "0,0001 (in-house database, ~5000 samples)" "{PMID:Tracewska 2019:31766579}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94019581C>T" "" "pathogenic" "ACMG"
"0000798314" "1" "70" "1" "94487251" "94487251" "subst" "2.85679E-5" "03840" "ABCA4_000490" "g.94487251G>T" "0 (in-house database, ~5000 samples)" "{PMID:Tracewska 2019:31766579}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94021695G>T" "" "likely pathogenic" "ACMG"
"0000798315" "21" "70" "1" "94497392" "94497392" "subst" "0" "03840" "ABCA4_000577" "g.94497392G>A" "0 (in-house database, ~5000 samples)" "{PMID:Tracewska 2019:31766579}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94031836G>A" "" "likely pathogenic" "ACMG"
"0000798316" "10" "90" "1" "94506874" "94506874" "subst" "0" "03840" "ABCA4_001900" "g.94506874A>T" "0 (in-house database, ~5000 samples)" "{PMID:Tracewska 2019:31766579}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94041318A>T" "" "pathogenic" "ACMG"
"0000798317" "3" "90" "1" "94508969" "94508969" "subst" "0.00168642" "03840" "ABCA4_000021" "g.94508969G>A" "0 (in-house database, ~5000 samples)" "{PMID:Tracewska 2019:31766579}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94043413G>A" "" "pathogenic" "ACMG"
"0000798318" "3" "90" "1" "94528806" "94528806" "subst" "0.000150298" "03840" "ABCA4_000020" "g.94528806A>G" "0,00308 (in-house database, ~5000 samples)" "{PMID:Tracewska 2019:31766579}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94063250A>G" "" "pathogenic" "ACMG"
"0000798319" "2" "90" "1" "94486896" "94486896" "subst" "3.65562E-5" "03840" "ABCA4_000085" "g.94486896G>A" "0,0001 (in-house database, ~5000 samples)" "{PMID:Tracewska 2019:31766579}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94021340G>A" "" "pathogenic" "ACMG"
"0000798320" "1" "90" "1" "94528132" "94528132" "subst" "4.06835E-6" "03840" "ABCA4_000773" "g.94528132C>T" "0 (in-house database, ~5000 samples)" "{PMID:Tracewska 2019:31766579}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94062576C>T" "" "pathogenic" "ACMG"
"0000798321" "3" "90" "1" "94496571" "94496571" "subst" "4.06174E-6" "03840" "ABCA4_000111" "g.94496571G>A" "0,00082 (in-house database, ~5000 samples)" "{PMID:Tracewska 2019:31766579}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94031015G>A" "" "pathogenic" "ACMG"
"0000798322" "11" "90" "1" "94508969" "94508969" "subst" "0.00168642" "03840" "ABCA4_000021" "g.94508969G>A" "0 (in-house database, ~5000 samples)" "{PMID:Tracewska 2019:31766579}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94043413G>A" "" "pathogenic" "ACMG"
"0000798323" "21" "90" "1" "94476951" "94476951" "subst" "0.000236097" "03840" "ABCA4_000025" "g.94476951A>G" "0,0002 (in-house database, ~5000 samples)" "{PMID:Tracewska 2019:31766579}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94011395A>G" "" "pathogenic" "ACMG"
"0000798324" "11" "90" "1" "94528806" "94528806" "subst" "0.000150298" "03840" "ABCA4_000020" "g.94528806A>G" "0,00308 (in-house database, ~5000 samples)" "{PMID:Tracewska 2019:31766579}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94063250A>G" "" "pathogenic" "ACMG"
"0000798325" "0" "50" "1" "94473802" "94473802" "subst" "8.12275E-6" "03840" "ABCA4_002277" "g.94473802G>A" "0 (in-house database, ~5000 samples)" "{PMID:Tracewska 2019:31766579}" "" "" "" "Germline" "" "" "0" "" "" "g.94008246G>A" "" "VUS" "ACMG"
"0000798326" "10" "70" "1" "94473807" "94473807" "subst" "0.00480453" "03840" "ABCA4_000046" "g.94473807C>T" "0,00642 (in-house database, ~5000 samples)" "{PMID:Tracewska 2019:31766579}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" "ACMG"
"0000798328" "20" "50" "1" "94543389" "94543389" "subst" "0.000861235" "03840" "ABCA4_000312" "g.94543389C>T" "0.003 (in-house database, ~9000 samples)" "{PMID:Tracewska 2019:31766579}" "" "" "" "Germline" "" "" "0" "" "" "g.94077833C>T" "" "VUS" "ACMG"
"0000798329" "0" "50" "1" "94564531" "94564531" "subst" "8.3561E-6" "03840" "ABCA4_000986" "g.94564531G>A" "0 (in-house database, ~5000 samples)" "{PMID:Tracewska 2019:31766579}" "" "" "" "Germline" "" "" "0" "" "" "g.94098975G>A" "" "VUS" "ACMG"
"0000798330" "11" "90" "1" "94508969" "94508969" "subst" "0.00168642" "03840" "ABCA4_000021" "g.94508969G>A" "0 (in-house database, ~5000 samples)" "{PMID:Tracewska 2019:31766579}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94043413G>A" "" "pathogenic" "ACMG"
"0000798331" "21" "70" "1" "94473299" "94473299" "subst" "0" "03840" "ABCA4_002276" "g.94473299A>C" "0 (in-house database, ~5000 samples)" "{PMID:Tracewska 2019:31766579}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94007743A>C" "" "likely pathogenic" "ACMG"
"0000798332" "11" "90" "1" "94528806" "94528806" "subst" "0.000150298" "03840" "ABCA4_000020" "g.94528806A>G" "0,00308 (in-house database, ~5000 samples)" "{PMID:Tracewska 2019:31766579}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94063250A>G" "" "pathogenic" "ACMG"
"0000798333" "11" "90" "1" "94508969" "94508969" "subst" "0.00168642" "03840" "ABCA4_000021" "g.94508969G>A" "0 (in-house database, ~5000 samples)" "{PMID:Tracewska 2019:31766579}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94043413G>A" "" "pathogenic" "ACMG"
"0000798334" "11" "90" "1" "94528806" "94528806" "subst" "0.000150298" "03840" "ABCA4_000020" "g.94528806A>G" "0,00308 (in-house database, ~5000 samples)" "{PMID:Tracewska 2019:31766579}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94063250A>G" "" "pathogenic" "ACMG"
"0000798335" "21" "70" "1" "94546111" "94546111" "subst" "0" "03840" "ABCA4_000340" "g.94546111T>C" "0 (in-house database, ~5000 samples)" "{PMID:Tracewska 2019:31766579}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94080555T>C" "" "likely pathogenic" "ACMG"
"0000798336" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "03840" "ABCA4_000021" "g.94508969G>A" "0 (in-house database, ~5000 samples)" "{PMID:Tracewska 2019:31766579}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94043413G>A" "" "pathogenic" "ACMG"
"0000798337" "2" "90" "1" "94476951" "94476951" "subst" "0.000236097" "03840" "ABCA4_000025" "g.94476951A>G" "0,0002 (in-house database, ~5000 samples)" "{PMID:Tracewska 2019:31766579}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94011395A>G" "" "pathogenic" "ACMG"
"0000798338" "1" "90" "1" "94528806" "94528806" "subst" "0.000150298" "03840" "ABCA4_000020" "g.94528806A>G" "0,00308 (in-house database, ~5000 samples)" "{PMID:Tracewska 2019:31766579}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94063250A>G" "" "pathogenic" "ACMG"
"0000798339" "21" "90" "1" "94508969" "94508969" "subst" "0.00168642" "03840" "ABCA4_000021" "g.94508969G>A" "0 (in-house database, ~5000 samples)" "{PMID:Tracewska 2019:31766579}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94043413G>A" "" "pathogenic" "ACMG"
"0000798340" "11" "70" "1" "94517254" "94517254" "subst" "0.00442654" "03840" "ABCA4_000034" "g.94517254C>G" "0,00317 (in-house database, ~5000 samples)" "{PMID:Tracewska 2019:31766579}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic" "ACMG"
"0000798341" "21" "90" "1" "94528806" "94528806" "subst" "0.000150298" "03840" "ABCA4_000020" "g.94528806A>G" "0,00308 (in-house database, ~5000 samples)" "{PMID:Tracewska 2019:31766579}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94063250A>G" "" "pathogenic" "ACMG"
"0000798342" "11" "90" "1" "94508969" "94508969" "subst" "0.00168642" "03840" "ABCA4_000021" "g.94508969G>A" "0 (in-house database, ~5000 samples)" "{PMID:Tracewska 2019:31766579}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94043413G>A" "" "pathogenic" "ACMG"
"0000798343" "11" "90" "1" "94528806" "94528806" "subst" "0.000150298" "03840" "ABCA4_000020" "g.94528806A>G" "0,00308 (in-house database, ~5000 samples)" "{PMID:Tracewska 2019:31766579}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94063250A>G" "" "pathogenic" "ACMG"
"0000798344" "21" "90" "1" "94564484" "94564484" "subst" "0.000110199" "03840" "ABCA4_000036" "g.94564484G>A" "0,0001 (in-house database, ~5000 samples)" "{PMID:Tracewska 2019:31766579}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94098928G>A" "" "pathogenic" "ACMG"
"0000798345" "3" "90" "1" "94508969" "94508969" "subst" "0.00168642" "03840" "ABCA4_000021" "g.94508969G>A" "0 (in-house database, ~5000 samples)" "{PMID:Tracewska 2019:31766579}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94043413G>A" "" "pathogenic" "ACMG"
"0000798346" "3" "90" "1" "94528806" "94528806" "subst" "0.000150298" "03840" "ABCA4_000020" "g.94528806A>G" "0,00308 (in-house database, ~5000 samples)" "{PMID:Tracewska 2019:31766579}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94063250A>G" "" "pathogenic" "ACMG"
"0000798347" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "03840" "ABCA4_000021" "g.94508969G>A" "0 (in-house database, ~5000 samples)" "{PMID:Tracewska 2019:31766579}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94043413G>A" "" "pathogenic" "ACMG"
"0000798348" "0" "90" "1" "94528806" "94528806" "subst" "0.000150298" "03840" "ABCA4_000020" "g.94528806A>G" "0,00308 (in-house database, ~5000 samples)" "{PMID:Tracewska 2019:31766579}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94063250A>G" "" "pathogenic" "ACMG"
"0000798349" "0" "90" "1" "94564484" "94564484" "subst" "0.000110199" "03840" "ABCA4_000036" "g.94564484G>A" "0,0001 (in-house database, ~5000 samples)" "{PMID:Tracewska 2019:31766579}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94098928G>A" "" "pathogenic" "ACMG"
"0000798350" "11" "90" "1" "94508969" "94508969" "subst" "0.00168642" "03840" "ABCA4_000021" "g.94508969G>A" "0 (in-house database, ~5000 samples)" "{PMID:Tracewska 2019:31766579}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94043413G>A" "" "pathogenic" "ACMG"
"0000798351" "21" "90" "1" "94476351" "94476351" "subst" "0.000296608" "03840" "ABCA4_000996" "g.94476351C>T" "0,00061 (in-house database, ~5000 samples)" "{PMID:Tracewska 2019:31766579}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94010795C>T" "" "pathogenic" "ACMG"
"0000798352" "11" "90" "1" "94528806" "94528806" "subst" "0.000150298" "03840" "ABCA4_000020" "g.94528806A>G" "0,00308 (in-house database, ~5000 samples)" "{PMID:Tracewska 2019:31766579}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94063250A>G" "" "pathogenic" "ACMG"
"0000798353" "11" "90" "1" "94508969" "94508969" "subst" "0.00168642" "03840" "ABCA4_000021" "g.94508969G>A" "0 (in-house database, ~5000 samples)" "{PMID:Tracewska 2019:31766579}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94043413G>A" "" "pathogenic" "ACMG"
"0000798354" "21" "90" "1" "94495983" "94495983" "subst" "8.12348E-6" "03840" "ABCA4_000547" "g.94495983C>T" "0 (in-house database, ~5000 samples)" "{PMID:Tracewska 2019:31766579}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94030427C>T" "" "pathogenic" "ACMG"
"0000798355" "11" "90" "1" "94528806" "94528806" "subst" "0.000150298" "03840" "ABCA4_000020" "g.94528806A>G" "0,00308 (in-house database, ~5000 samples)" "{PMID:Tracewska 2019:31766579}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94063250A>G" "" "pathogenic" "ACMG"
"0000798356" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "03840" "ABCA4_000021" "g.94508969G>A" "0 (in-house database, ~5000 samples)" "{PMID:Tracewska 2019:31766579}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94043413G>A" "" "pathogenic" "ACMG"
"0000798357" "2" "90" "1" "94495983" "94495983" "subst" "8.12348E-6" "03840" "ABCA4_000547" "g.94495983C>T" "0 (in-house database, ~5000 samples)" "{PMID:Tracewska 2019:31766579}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94030427C>T" "" "pathogenic" "ACMG"
"0000798358" "1" "90" "1" "94528806" "94528806" "subst" "0.000150298" "03840" "ABCA4_000020" "g.94528806A>G" "0,00308 (in-house database, ~5000 samples)" "{PMID:Tracewska 2019:31766579}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94063250A>G" "" "pathogenic" "ACMG"
"0000798431" "0" "70" "1" "94505611" "94505611" "subst" "0" "00000" "ABCA4_001887" "g.94505611G>A" "" "{PMID:Song-2011:22025579}" "" "c.3595C>T" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000798439" "0" "70" "1" "94466624" "94466624" "subst" "0.0014345" "00000" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Song-2011:22025579}" "" "c.6320G>A" "" "Unknown" "" "rs62642564" "0" "" "" "" "" "likely pathogenic" ""
"0000798445" "0" "70" "1" "94496039" "94496039" "subst" "0.00157963" "00000" "ABCA4_000552" "g.94496039C>T" "" "{PMID:Song-2011:22025579}" "" "c.4297G>A" "" "Unknown" "" "rs56357060" "0" "" "" "" "" "likely pathogenic" ""
"0000798446" "0" "70" "1" "94487251" "94487251" "subst" "2.85679E-5" "00000" "ABCA4_000490" "g.94487251G>T" "" "{PMID:Song-2011:22025579}" "" "c.4793C>A" "" "Unknown" "" "rs61750155" "0" "" "" "" "" "likely pathogenic" ""
"0000798447" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Song-2011:22025579}" "" "c.5882G>A" "" "Unknown" "" "rs1800553" "0" "" "" "" "" "likely pathogenic" ""
"0000799558" "0" "30" "1" "94461770" "94461770" "subst" "0.000816533" "02330" "ABCA4_000952" "g.94461770C>T" "" "" "" "ABCA4(NM_000350.3):c.6730-19G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000799559" "0" "50" "1" "94471020" "94471020" "subst" "7.72151E-5" "02327" "ABCA4_002282" "g.94471020C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000799560" "0" "50" "1" "94471076" "94471076" "subst" "3.24992E-5" "01943" "ABCA4_001628" "g.94471076A>G" "" "" "" "ABCA4(NM_000350.2):c.6068T>C (p.I2023T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000799561" "0" "50" "1" "94476484" "94476484" "subst" "8.1283E-5" "02327" "ABCA4_002283" "g.94476484A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000799562" "0" "90" "1" "94484001" "94484001" "subst" "0" "02330" "ABCA4_000016" "g.94484001C>T" "" "" "" "ABCA4(NM_000350.3):c.5196+1137G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000799563" "0" "70" "1" "94492937" "94492937" "subst" "0" "02327" "ABCA4_000529" "g.94492937G>A" "" "" "" "ABCA4(NM_000350.3):c.4539+2064C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0000799564" "0" "90" "1" "94495104" "94495104" "subst" "0" "02330" "ABCA4_001216" "g.94495104C>T" "" "" "" "ABCA4(NM_000350.3):c.4436G>A (p.W1479*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000799565" "0" "30" "1" "94497323" "94497323" "subst" "0.000360866" "02330" "ABCA4_002284" "g.94497323G>A" "" "" "" "ABCA4(NM_000350.3):c.4128+11C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000799566" "0" "30" "1" "94505702" "94505702" "subst" "0" "02330" "ABCA4_002285" "g.94505702A>C" "" "" "" "ABCA4(NM_000350.3):c.3523-19T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000799567" "0" "30" "1" "94528117" "94528117" "subst" "0.000386751" "02330" "ABCA4_002286" "g.94528117C>T" "" "" "" "ABCA4(NM_000350.3):c.1937+16G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000799568" "0" "30" "1" "94528774" "94528774" "subst" "0.00264827" "02325" "ABCA4_000298" "g.94528774C>T" "" "" "" "ABCA4(NM_000350.2):c.1654G>A (p.V552I, p.(Val552Ile)), ABCA4(NM_000350.3):c.1654G>A (p.V552I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000799569" "0" "30" "1" "94528774" "94528774" "subst" "0.00264827" "02327" "ABCA4_000298" "g.94528774C>T" "" "" "" "ABCA4(NM_000350.2):c.1654G>A (p.V552I, p.(Val552Ile)), ABCA4(NM_000350.3):c.1654G>A (p.V552I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000799570" "0" "50" "1" "94543290" "94543298" "del" "0" "02330" "ABCA4_002287" "g.94543290_94543298del" "" "" "" "ABCA4(NM_000350.3):c.1506_1514delATTTAACAT (p.F503_I505del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000799571" "0" "30" "1" "94546152" "94546152" "subst" "0.000455685" "02330" "ABCA4_000942" "g.94546152G>A" "" "" "" "ABCA4(NM_000350.2):c.981C>T (p.P327=), ABCA4(NM_000350.3):c.981C>T (p.P327=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000799572" "0" "50" "1" "94568686" "94568686" "subst" "0.00258122" "01943" "ABCA4_000212" "g.94568686C>T" "" "" "" "ABCA4(NM_000350.2):c.455G>A (p.R152Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000799573" "0" "50" "1" "94577008" "94577008" "subst" "0" "02330" "ABCA4_000223" "g.94577008G>T" "" "" "" "ABCA4(NM_000350.3):c.288C>A (p.N96K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000811363" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Khan 2019:31725702}" "" "Allele 1 c.5882G>A (p.Gly1961Glu), Allele 2 c.3898C>T (p.Arg1300*)" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000811364" "3" "70" "1" "94520684" "94520684" "subst" "0" "00000" "ABCA4_001069" "g.94520684A>G" "" "{PMID:Khan 2019:31725702}" "" "Allele 1 c.5882G>A (p.Gly1961Glu)/c.2570T (p.Leu857Pro), Allele 2 c.5882G>A (p.Gly1961Glu)/c.2570T (p.Leu857Pro)" "homozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94055128A>G" "" "likely pathogenic" ""
"0000811365" "3" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Khan 2019:31725702}" "" "Allele 1 c.5882G>A (p.Gly1961Glu), Allele 2 c.3302G>A (p.Trp1101*)" "homozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000811366" "0" "70" "1" "94497564" "94497564" "subst" "1.64383E-5" "00000" "ABCA4_000091" "g.94497564G>A" "" "{PMID:Khan 2019:31725702}" "" "Allele 1 c.5882G>A (p.Gly1961Glu), Allele 2 c.3898C>T (p.Arg1300*)" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94032008G>A" "" "likely pathogenic" ""
"0000811367" "3" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Khan 2019:31725702}" "" "Allele 1 c.5882G>A (p.Gly1961Glu)/c.2570T (p.Leu857Pro), Allele 2 c.5882G>A (p.Gly1961Glu)/c.2570T (p.Leu857Pro)" "homozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000811368" "3" "70" "1" "94520684" "94520684" "subst" "0" "00000" "ABCA4_001069" "g.94520684A>G" "" "{PMID:Khan 2019:31725702}" "" "Allele 1 c.5882G>A (p.Gly1961Glu)/c.2570T (p.Leu857Pro), Allele 2 c.5882G>A (p.Gly1961Glu)/c.2570T (p.Leu857Pro)" "homozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94055128A>G" "" "likely pathogenic" ""
"0000811369" "3" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Khan 2019:31725702}" "" "Allele 1 c.5882G>A (p.Gly1961Glu)/c.2570T (p.Leu857Pro), Allele 2 c.5882G>A (p.Gly1961Glu)/c.2570T (p.Leu857Pro)" "homozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000811370" "3" "70" "1" "94520684" "94520684" "subst" "0" "00000" "ABCA4_001069" "g.94520684A>G" "" "{PMID:Khan 2019:31725702}" "" "Allele 1 c.5882G>A (p.Gly1961Glu)/c.2570T (p.Leu857Pro), Allele 2 c.5882G>A (p.Gly1961Glu)/c.2570T (p.Leu857Pro)" "homozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94055128A>G" "" "likely pathogenic" ""
"0000811371" "3" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Khan 2019:31725702}" "" "Allele 1 c.5882G>A (p.Gly1961Glu)/c.2570T (p.Leu857Pro), Allele 2 c.5882G>A (p.Gly1961Glu)/c.2570T (p.Leu857Pro)" "homozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000811372" "3" "70" "1" "94520684" "94520684" "subst" "0" "00000" "ABCA4_001069" "g.94520684A>G" "" "{PMID:Khan 2019:31725702}" "" "Allele 1 c.5882G>A (p.Gly1961Glu)/c.2570T (p.Leu857Pro), Allele 2 c.5882G>A (p.Gly1961Glu)/c.2570T (p.Leu857Pro)" "homozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94055128A>G" "" "likely pathogenic" ""
"0000811373" "3" "70" "1" "94502891" "94502891" "subst" "0" "00000" "ABCA4_001882" "g.94502891A>C" "" "{PMID:Khan 2019:31725702}" "" "Allele 1 c.3623T>G (p.Leu1208Arg), Allele 2 c.3623T>G (p.Leu1208Arg)" "homozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94037335A>C" "" "likely pathogenic" ""
"0000811374" "3" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Khan 2019:31725702}" "" "Allele 1 c.5882G>A (p.Gly1961Glu)/c.2570T (p.Leu857Pro), Allele 2 c.5882G>A (p.Gly1961Glu)/c.2570T (p.Leu857Pro)" "homozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000811375" "3" "70" "1" "94520684" "94520684" "subst" "0" "00000" "ABCA4_001069" "g.94520684A>G" "" "{PMID:Khan 2019:31725702}" "" "Allele 1 c.5882G>A (p.Gly1961Glu)/c.2570T (p.Leu857Pro), Allele 2 c.5882G>A (p.Gly1961Glu)/c.2570T (p.Leu857Pro)" "homozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94055128A>G" "" "likely pathogenic" ""
"0000811376" "3" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Khan 2019:31725702}" "" "Allele 1 c.5882G>A (p.Gly1961Glu)/c.2570T (p.Leu857Pro), Allele 2 c.5882G>A (p.Gly1961Glu)/c.2570T (p.Leu857Pro)" "homozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000811377" "3" "70" "1" "94520684" "94520684" "subst" "0" "00000" "ABCA4_001069" "g.94520684A>G" "" "{PMID:Khan 2019:31725702}" "" "Allele 1 c.5882G>A (p.Gly1961Glu)/c.2570T (p.Leu857Pro), Allele 2 c.5882G>A (p.Gly1961Glu)/c.2570T (p.Leu857Pro)" "homozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94055128A>G" "" "likely pathogenic" ""
"0000811378" "3" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Khan 2019:31725702}" "" "Allele 1 c.5882G>A (p.Gly1961Glu)/c.2570T (p.Leu857Pro), Allele 2 c.5882G>A (p.Gly1961Glu)/c.2570T (p.Leu857Pro)" "homozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000811379" "3" "70" "1" "94520684" "94520684" "subst" "0" "00000" "ABCA4_001069" "g.94520684A>G" "" "{PMID:Khan 2019:31725702}" "" "Allele 1 c.5882G>A (p.Gly1961Glu)/c.2570T (p.Leu857Pro), Allele 2 c.5882G>A (p.Gly1961Glu)/c.2570T (p.Leu857Pro)" "homozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94055128A>G" "" "likely pathogenic" ""
"0000811380" "3" "70" "1" "94490577" "94490577" "subst" "0" "00000" "ABCA4_001791" "g.94490577G>A" "" "{PMID:Khan 2019:31725702}" "" "Allele 1 c.4567C>T (p.Gln1523*), Allele 2 c.4567C>T (p.Gln1523*)" "homozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94025021G>A" "" "likely pathogenic" ""
"0000811381" "3" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Khan 2019:31725702}" "" "Allele 1 c.5882G>A (p.Gly1961Glu)/c.2570T (p.Leu857Pro), Allele 2 c.5882G>A (p.Gly1961Glu)/c.2570T (p.Leu857Pro)" "homozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000811382" "3" "70" "1" "94520684" "94520684" "subst" "0" "00000" "ABCA4_001069" "g.94520684A>G" "" "{PMID:Khan 2019:31725702}" "" "Allele 1 c.5882G>A (p.Gly1961Glu)/c.2570T (p.Leu857Pro), Allele 2 c.5882G>A (p.Gly1961Glu)/c.2570T (p.Leu857Pro)" "homozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94055128A>G" "" "likely pathogenic" ""
"0000811383" "3" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Khan 2019:31725702}" "" "Allele 1 c.5882G>A (p.Gly1961Glu)/c.2570T (p.Leu857Pro), Allele 2 c.5882G>A (p.Gly1961Glu)/c.2570T (p.Leu857Pro)" "homozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000811384" "3" "70" "1" "94520684" "94520684" "subst" "0" "00000" "ABCA4_001069" "g.94520684A>G" "" "{PMID:Khan 2019:31725702}" "" "Allele 1 c.5882G>A (p.Gly1961Glu)/c.2570T (p.Leu857Pro), Allele 2 c.5882G>A (p.Gly1961Glu)/c.2570T (p.Leu857Pro)" "homozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94055128A>G" "" "likely pathogenic" ""
"0000811385" "3" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Khan 2019:31725702}" "" "Allele 1 c.5882G>A (p.Gly1961Glu)/c.2570T (p.Leu857Pro), Allele 2 c.5882G>A (p.Gly1961Glu)/c.2570T (p.Leu857Pro)" "homozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000811386" "3" "70" "1" "94520684" "94520684" "subst" "0" "00000" "ABCA4_001069" "g.94520684A>G" "" "{PMID:Khan 2019:31725702}" "" "Allele 1 c.5882G>A (p.Gly1961Glu)/c.2570T (p.Leu857Pro), Allele 2 c.5882G>A (p.Gly1961Glu)/c.2570T (p.Leu857Pro)" "homozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94055128A>G" "" "likely pathogenic" ""
"0000811387" "3" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Khan 2019:31725702}" "" "Allele 1 c.5882G>A (p.Gly1961Glu)/c.2570T (p.Leu857Pro), Allele 2 c.5882G>A (p.Gly1961Glu)/c.2570T (p.Leu857Pro)" "homozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000811388" "0" "70" "1" "94508343" "94508343" "subst" "4.06197E-6" "00000" "ABCA4_001924" "g.94508343C>T" "" "{PMID:Khan 2019:31725702}" "" "Allele 1 c.5882G>A (p.Gly1961Glu), Allele 2 c.3302G>A (p.Trp1101*)" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94042787C>T" "" "likely pathogenic" ""
"0000811493" "0" "50" "1" "94528164" "94528164" "subst" "0" "00000" "ABCA4_001311" "g.94528164G>T" "" "{PMID:Kim 2019:31496144}" "" "ABCA4 c.1906C>A, p.Q636K" "" "Germline" "?" "" "0" "" "" "g.94062608G>T" "" "VUS" "ACMG"
"0000811500" "0" "50" "1" "94487427" "94487427" "subst" "8.12176E-6" "00000" "ABCA4_001339" "g.94487427A>G" "" "{PMID:Kim 2019:31496144}" "" "ABCA4 c.4748T>C, p.L1583P" "" "Germline" "?" "" "0" "" "" "g.94021871A>G" "" "VUS" "ACMG"
"0000811505" "0" "70" "1" "94471001" "94471001" "del" "0" "00000" "ABCA4_001337" "g.94471001del" "" "{PMID:Kim 2019:31496144}" "" "ABCA4 c.6146delA, p.R2049fs" "error in protein variant annotation" "Germline" "?" "" "0" "" "" "g.94005445del" "" "likely pathogenic" "ACMG"
"0000811506" "0" "70" "1" "94471001" "94471001" "del" "0" "00000" "ABCA4_001337" "g.94471001del" "" "{PMID:Kim 2019:31496144}" "" "ABCA4 c.6146delA, p.R2049fs" "error in protein variant annotation" "Germline" "?" "" "0" "" "" "g.94005445del" "" "likely pathogenic" "ACMG"
"0000811507" "0" "70" "1" "94506867" "94506867" "subst" "0" "00000" "ABCA4_001296" "g.94506867G>C" "" "{PMID:Kim 2019:31496144}" "" "ABCA4 c.3420C>G, p.C1140W" "" "Germline" "?" "" "0" "" "" "g.94041311G>C" "" "likely pathogenic" "ACMG"
"0000811508" "0" "70" "1" "94506949" "94506951" "del" "0" "00000" "ABCA4_001344" "g.94506949_94506951del" "" "{PMID:Kim 2019:31496144}" "" "ABCA4 c.3420C>G, p.C1140W" "" "Germline" "?" "" "0" "" "" "g.94041393_94041395del" "" "likely pathogenic" "ACMG"
"0000811509" "0" "70" "1" "94506867" "94506867" "subst" "0" "00000" "ABCA4_001296" "g.94506867G>C" "" "{PMID:Kim 2019:31496144}" "" "ABCA4 c.3470T>G, p.L1157X" "" "Germline" "?" "" "0" "" "" "g.94041311G>C" "" "likely pathogenic" "ACMG"
"0000811510" "0" "50" "1" "94506817" "94506817" "subst" "0" "00000" "ABCA4_001342" "g.94506817A>C" "" "{PMID:Kim 2019:31496144}" "" "ABCA4 c.4762A>T, p.N1588Y" "" "Germline" "?" "" "0" "" "" "g.94041261A>C" "" "VUS" "ACMG"
"0000811527" "0" "70" "1" "94546253" "94546253" "subst" "0" "00000" "ABCA4_001351" "g.94546253G>A" "" "{PMID:Kim 2019:31496144}" "" "ABCA4 c.880C>T, p.Q294X" "" "Germline" "?" "" "0" "" "" "g.94080697G>A" "" "likely pathogenic" "ACMG"
"0000811530" "0" "50" "1" "94528164" "94528164" "subst" "0" "00000" "ABCA4_001311" "g.94528164G>T" "" "{PMID:Kim 2019:31496144}" "" "ABCA4 c.1906C>A, p.Q636K" "" "Germline" "?" "" "0" "" "" "g.94062608G>T" "" "VUS" "ACMG"
"0000811534" "0" "50" "1" "94528137" "94528137" "subst" "2.03363E-5" "00000" "ABCA4_000774" "g.94528137C>T" "" "{PMID:Kim 2019:31496144}" "" "ABCA4 c.1933G>A, p.D654N" "" "Germline" "?" "" "0" "" "" "g.94062581C>T" "" "VUS" "ACMG"
"0000811535" "0" "70" "1" "94506938" "94506938" "subst" "0" "00000" "ABCA4_001343" "g.94506938T>C" "" "{PMID:Kim 2019:31496144}" "" "ABCA4 c.3349A>G, p.T1117A" "" "Germline" "?" "" "0" "" "" "g.94041382T>C" "" "likely pathogenic" "ACMG"
"0000811536" "0" "50" "1" "94506949" "94506951" "del" "0" "00000" "ABCA4_001344" "g.94506949_94506951del" "" "{PMID:Kim 2019:31496144}" "" "ABCA4 c.869G>A, p.R290Q" "" "Germline" "?" "" "0" "" "" "g.94041393_94041395del" "" "VUS" "ACMG"
"0000811537" "0" "70" "1" "94546264" "94546264" "subst" "4.08077E-6" "00000" "ABCA4_001352" "g.94546264C>T" "" "{PMID:Kim 2019:31496144}" "" "ABCA4 c.3470T>G, p.L1157X" "" "Germline" "?" "" "0" "" "" "g.94080708C>T" "" "likely pathogenic" "ACMG"
"0000811539" "0" "70" "15" "31295044" "31295044" "del" "0" "00000" "ABCA4_001344" "g.31295044del" "" "{PMID:Kim 2019:31496144}" "" "ABCA4 c.3342_3344delCAT, p.I1114_M1115delinsM" "" "Germline" "?" "" "0" "" "" "g.31002841del" "" "likely pathogenic" "ACMG"
"0000811540" "0" "70" "X" "85236743" "85236743" "subst" "0" "00000" "CHM_000510" "g.85236743G>A" "" "{PMID:Kim 2019:31496144}" "" "ABCA4 c.3342_3344delCAT, p.I1114_M1115delinsM" "" "Germline" "?" "" "0" "" "" "g.85981739G>A" "" "likely pathogenic" "ACMG"
"0000811756" "0" "70" "1" "94512507" "94512507" "del" "0" "00000" "ABCA4_000155" "g.94512507del" "" "{PMID:Del Pozo-Valero:31129250}" "" "c.2888del, p.Gly963Alafs*14" "unsolved" "Germline" "?" "" "0" "" "" "g.94046951del" "" "likely pathogenic" ""
"0000811757" "0" "70" "4" "94495083" "94495083" "subst" "0" "00000" "ABCA4_000542" "g.94495083G>A" "" "{PMID:Del Pozo-Valero:31129250}" "" "c.4457C>T, p.Pro1436Leu" "error in annotation, c.4457C>T causes p.Pro1486Leu and not p.Pro1436Leu," "Germline" "?" "" "0" "" "" "g.94029527G>A" "" "likely pathogenic" ""
"0000811865" "0" "70" "6" "94485221" "94485221" "subst" "0" "00000" "ABCA4_000471" "g.94485221G>A" "" "{PMID:Gao 2019:31054281}" "" "c.5113C>T, p.Arg1705Trp" "heterozygous" "Germline" "?" "" "0" "" "" "g.94019665G>A" "" "likely pathogenic" ""
"0000811876" "0" "70" "14" "94467500" "94467500" "del" "0" "00000" "ABCA4_000784" "g.94467500del" "" "{PMID:Gao 2019:31054281}" "" "c.6196delT, p.Cys2066Alafs49" "heterozygous" "Germline" "?" "" "0" "" "" "g.94001944del" "" "likely pathogenic" ""
"0000811879" "0" "70" "1" "94471025" "94471025" "subst" "0.00031698" "00000" "ABCA4_000096" "g.94471025C>T" "" "{PMID:Gao 2019:31054281}" "" "c.6119G>A, p.Arg2040Gln" "heterozygous" "Germline" "?" "" "0" "" "" "g.94005469C>T" "" "likely pathogenic" ""
"0000811949" "3" "70" "1" "94577082" "94577082" "subst" "2.84315E-5" "03840" "ABCA4_000232" "g.94577082C>T" "" "{PMID:Nasser 2019:30945053}" "" "c.214G>A, p.G72R" "homozygous" "Germline" "" "" "0" "" "" "g.94111526C>T" "" "likely pathogenic" "ACMG"
"0000811950" "0" "70" "1" "94543389" "94543389" "subst" "0.000861235" "03840" "ABCA4_000312" "g.94543389C>T" "" "{PMID:Nasser 2019:30945053}" "" "c.1411G>A, p.E471K" "heterozygous" "Germline" "" "" "0" "" "" "g.94077833C>T" "" "likely pathogenic" "ACMG"
"0000812012" "3" "70" "1" "94467517" "94467517" "subst" "0" "00000" "ABCA4_000786" "g.94467517A>C" "" "{PMID:Martin Merida 2019:30902645}" "" "ABCA4 Ex.45 c.6179T>G p.(Leu2060Arg), Ex.45 c.6179T>G p.(Leu2060Arg)" "homozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94001961A>C" "" "likely pathogenic" ""
"0000812053" "3" "70" "1" "94496548" "94496548" "subst" "2.43787E-5" "00000" "ABCA4_000088" "g.94496548G>A" "" "{PMID:Martin Merida 2019:30902645}" "" "ABCA4 IVS28 c.4253+4C>T p.(Ile1377Hisfs*3), IVS28 c.4253+4C>T p.(Ile1377Hisfs*3)" "homozygous" "Germline" "yes" "" "0" "" "" "g.94030992G>A" "" "likely pathogenic" ""
"0000812058" "3" "70" "1" "94473278" "94473278" "del" "3.25908E-5" "00000" "ABCA4_000392" "g.94473278del" "" "{PMID:Martin Merida 2019:30902645}" "" "ABCA4 Ex.43 c.5917del p.(Val1973*), Ex.43 c.5917del p.(Val1973*)" "homozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94007722del" "" "likely pathogenic" ""
"0000812085" "3" "70" "1" "94506901" "94506901" "subst" "0.000308665" "00000" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Martin Merida 2019:30902645}" "" "ABCA4 Ex.23 c.3386G>T p.(Arg1129Leu), Ex.23 c.3386G>T p.(Arg1129Leu)" "homozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94041345C>A" "" "likely pathogenic" ""
"0000812096" "0" "70" "1" "94496039" "94496039" "subst" "0.00157963" "00000" "ABCA4_000552" "g.94496039C>T" "" "{PMID:Martin Merida 2019:30902645}" "" "FAM161A Ex.3 c.1309A>T p.(Arg437*), Ex.3 c.1309A>T p.(Arg437*), ABCA4: p.(Val1433Ile) Ex.29 c.4297G>A" "compound heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94030483C>T" "" "likely pathogenic" ""
"0000812104" "0" "70" "1" "94586601" "94586601" "subst" "8.12156E-6" "00000" "ABCA4_000264" "g.94586601T>C" "" "{PMID:Martin Merida 2019:30902645}" "" "ABCA4 Ex.1 c.1A>G p.(?), Ex.22 c.3210_3211dup p.(Ser1071Cysfs*14), ABCA4: Ex.44 c.6089G>A p.(Arg2030Gln)" "compound heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94121045T>C" "" "likely pathogenic" ""
"0000812105" "0" "70" "1" "94471055" "94471055" "subst" "0.00035346" "00000" "ABCA4_000029" "g.94471055C>T" "" "{PMID:Martin Merida 2019:30902645}" "" "ABCA4 Ex.1 c.1A>G p.(?), Ex.22 c.3210_3211dup p.(Ser1071Cysfs*14), ABCA4: Ex.44 c.6089G>A p.(Arg2030Gln)" "compound heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94005499C>T" "" "likely pathogenic" ""
"0000812106" "0" "70" "1" "94508435" "94508436" "dup" "0" "00000" "ABCA4_000998" "g.94508435_94508436dup" "" "{PMID:Martin Merida 2019:30902645}" "" "ABCA4 Ex.1 c.1A>G p.(?), Ex.22 c.3210_3211dup p.(Ser1071Cysfs*14), ABCA4: Ex.44 c.6089G>A p.(Arg2030Gln)" "compound heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94042879_94042880dup" "" "likely pathogenic" ""
"0000812131" "0" "70" "1" "94467548" "94467548" "subst" "0.00295661" "00000" "ABCA4_000788" "g.94467548C>G" "" "{PMID:Martin Merida 2019:30902645}" "" "USH2A Ex.3 c.497A>G p.(Glu166Gly), IVS12 c.2168-1G>C p.(?), ABCA4: Ex.45 c.6148G>A p.(Val2050Leu) error in annotation, this change is caused by c.6148G>C" "error in annotation, p.(Val2050Leu) is a frequent variant caused by c.6148G>C, compound heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94001992C>G" "" "likely pathogenic" ""
"0000812147" "0" "70" "1" "94508969" "94508969" "subst" "0.00168642" "00000" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Martin Merida 2019:30902645}" "" "ABCA4 Ex.21 c.3113C>T p.(Ala1038Val), Ex.23 c.3386G>T p.(Arg1129Leu)" "compound heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic" ""
"0000812148" "0" "70" "1" "94506901" "94506901" "subst" "0.000308665" "00000" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Martin Merida 2019:30902645}" "" "ABCA4 Ex.21 c.3113C>T p.(Ala1038Val), Ex.23 c.3386G>T p.(Arg1129Leu)" "compound heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94041345C>A" "" "likely pathogenic" ""
"0000812155" "0" "70" "1" "94508435" "94508436" "dup" "0" "00000" "ABCA4_000998" "g.94508435_94508436dup" "" "{PMID:Martin Merida 2019:30902645}" "" "ABCA4 Ex.22 c.3210_3211dup p.(Ser1071Cysfs*14), Ex.30 c.4417C>A p.(Leu1437Met)" "compound heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94042879_94042880dup" "" "likely pathogenic" ""
"0000812156" "0" "70" "1" "94495123" "94495123" "subst" "0.000117967" "00000" "ABCA4_000544" "g.94495123G>T" "" "{PMID:Martin Merida 2019:30902645}" "" "ABCA4 Ex.22 c.3210_3211dup p.(Ser1071Cysfs*14), Ex.30 c.4417C>A p.(Leu1437Met)" "compound heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94029567G>T" "" "likely pathogenic" ""
"0000812157" "0" "70" "1" "94496571" "94496571" "subst" "4.06174E-6" "00000" "ABCA4_000111" "g.94496571G>A" "" "{PMID:Martin Merida 2019:30902645}" "" "ABCA4 Ex.28 c.4234C>T p.(Gln1412*), Ex 43 c.5917del p.(Val1973*)" "compound heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94031015G>A" "" "likely pathogenic" ""
"0000812158" "0" "70" "1" "94473278" "94473278" "del" "3.25908E-5" "00000" "ABCA4_000392" "g.94473278del" "" "{PMID:Martin Merida 2019:30902645}" "" "ABCA4 Ex.28 c.4234C>T p.(Gln1412*), Ex 43 c.5917del p.(Val1973*)" "compound heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94007722del" "" "likely pathogenic" ""
"0000812164" "0" "70" "1" "94528679" "94528679" "subst" "2.84368E-5" "00000" "ABCA4_000292" "g.94528679C>G" "" "{PMID:Martin Merida 2019:30902645}" "" "ABCA4 Ex.12 c.1749G>C p.(Lys583Asn), Ex.12-13 c.(1554+1_1555-1)_(1937+1_1938-1)del" "compound heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94063123C>G" "" "likely pathogenic" ""
"0000812165" "0" "70" "1" "94528132" "94528874" "del" "0" "00000" "ABCA4_002353" "g.(94526316_94528132)_(94528874_94543245)del" "" "{PMID:Martin Merida 2019:30902645}" "" "ABCA4 Ex.12 c.1749G>C p.(Lys583Asn), Ex.12-13 c.(1554+1_1555-1)_(1937+1_1938-1)del" "compound heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.(94060760_94062576)_(94063318_94077689)del" "" "likely pathogenic" ""
"0000812199" "0" "70" "1" "94510239" "94510239" "subst" "1.21819E-5" "00000" "ABCA4_002289" "g.94510239T>C" "" "{PMID:Martin Merida 2019:30902645}" "" "ABCA4 Ex.20 c.2980A>G p.(Ile994Val), Ex.38 c.5383T>G p.(Leu1795Val)" "compound heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94044683T>C" "" "likely pathogenic" ""
"0000812200" "0" "70" "1" "94480176" "94480176" "subst" "8.12255E-6" "00000" "ABCA4_002288" "g.94480176A>C" "" "{PMID:Martin Merida 2019:30902645}" "" "ABCA4 Ex.20 c.2980A>G p.(Ile994Val), Ex.38 c.5383T>G p.(Leu1795Val)" "compound heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94014620A>C" "" "likely pathogenic" ""
"0000812203" "0" "70" "1" "94568581" "94568581" "subst" "3.65458E-5" "00000" "ABCA4_000202" "g.94568581C>T" "" "{PMID:Martin Merida 2019:30902645}" "" "ABCA4 Ex.5 c.560G>A p.(Arg187His), Ex.22 c.3210_3211dup p.(Ser1071Cysfs*14)" "compound heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94103025C>T" "" "likely pathogenic" ""
"0000812204" "0" "70" "1" "94508435" "94508436" "dup" "0" "00000" "ABCA4_000998" "g.94508435_94508436dup" "" "{PMID:Martin Merida 2019:30902645}" "" "ABCA4 Ex.5 c.560G>A p.(Arg187His), Ex.22 c.3210_3211dup p.(Ser1071Cysfs*14)" "compound heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94042879_94042880dup" "" "likely pathogenic" ""
"0000812237" "0" "70" "1" "94495083" "94495083" "subst" "0.000124542" "00000" "ABCA4_000542" "g.94495083G>A" "" "{PMID:Martin Merida 2019:30902645}" "" "ABCA4 Ex.30 c.4457C>T p.(Pro1486Leu), Ex.43 c.5914G>A p.(Gly1972Arg)" "compound heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94029527G>A" "" "likely pathogenic" ""
"0000812238" "0" "70" "1" "94473281" "94473281" "subst" "0" "00000" "ABCA4_000393" "g.94473281C>T" "" "{PMID:Martin Merida 2019:30902645}" "" "ABCA4 Ex.30 c.4457C>T p.(Pro1486Leu), Ex.43 c.5914G>A p.(Gly1972Arg)" "compound heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94007725C>T" "" "likely pathogenic" ""
"0000812257" "0" "70" "1" "94522239" "94522239" "subst" "2.03305E-5" "00000" "ABCA4_000736" "g.94522239A>T" "" "{PMID:Martin Merida 2019:30902645}" "" "ABCA4 Ex.15 c.2300T>A p.(Val767Asp), IVS41 c.5836-1G>C p.(?)" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.94056683A>T" "" "likely pathogenic" ""
"0000812258" "0" "70" "1" "94473854" "94473854" "subst" "0" "00000" "ABCA4_001648" "g.94473854C>G" "" "{PMID:Martin Merida 2019:30902645}" "" "ABCA4 Ex.15 c.2300T>A p.(Val767Asp), IVS41 c.5836-1G>C p.(?)" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.94008298C>G" "" "likely pathogenic" ""
"0000812270" "0" "70" "1" "94528191" "94528191" "subst" "0" "00000" "ABCA4_002074" "g.94528191C>A" "" "{PMID:Martin Merida 2019:30902645}" "" "ABCA4 Ex.13 c.1879G>T p.(Glu627*), Ex.41 c.5819T>C p.(Leu1940Pro)" "compound heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94062635C>A" "" "likely pathogenic" ""
"0000812271" "0" "70" "1" "94474323" "94474323" "subst" "2.03034E-5" "00000" "ABCA4_000156" "g.94474323A>G" "" "{PMID:Martin Merida 2019:30902645}" "" "ABCA4 Ex.13 c.1879G>T p.(Glu627*), Ex.41 c.5819T>C p.(Leu1940Pro)" "compound heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94008767A>G" "" "likely pathogenic" ""
"0000812280" "0" "70" "1" "94544895" "94544895" "subst" "1.62455E-5" "00000" "ABCA4_000329" "g.94544895G>A" "" "{PMID:Martin Merida 2019:30902645}" "" "ABCA4 Ex.9 c.1222C>T p.(Arg408*), IVS38 c.5461-1G>T p.(?)" "compound heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94079339G>A" "" "likely pathogenic" ""
"0000812281" "0" "70" "1" "94476942" "94476942" "subst" "0" "00000" "ABCA4_001487" "g.94476942C>A" "" "{PMID:Martin Merida 2019:30902645}" "" "ABCA4 Ex.9 c.1222C>T p.(Arg408*), IVS38 c.5461-1G>T p.(?)" "compound heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94011386C>A" "" "likely pathogenic" ""
"0000812296" "3" "70" "1" "94506901" "94506901" "subst" "0.000308665" "00000" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Martin Merida 2019:30902645}" "" "ABCA4 Ex.23 c.3386G>T p.(Arg1129Leu), Ex.23 c.3386G>T p.(Arg1129Leu), RP1: Ex.4 c.1186C>T p.(Arg396*)" "homozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94041345C>A" "" "likely pathogenic" ""
"0000812300" "3" "70" "1" "94509026" "94509026" "subst" "4.06497E-5" "00000" "ABCA4_000660" "g.94509026G>A" "" "{PMID:Martin Merida 2019:30902645}" "" "ABCA4 Ex.21 c.3056C>T p.(Thr1019Met), Ex.21 c.3056C>T p.(Thr1019Met)" "homozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94043470G>A" "" "likely pathogenic" ""
"0000812332" "0" "70" "1" "94564505" "94564505" "subst" "0" "00000" "ABCA4_002290" "g.94564505A>C" "" "{PMID:Martin Merida 2019:30902645}" "" "ABCA4 Ex.6 c.613T>G p.(Cys205Gly), Ex.41 c.5819T>C p.(Leu1940Pro)" "compound heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94098949A>C" "" "likely pathogenic" ""
"0000812333" "0" "70" "1" "94474323" "94474323" "subst" "2.03034E-5" "00000" "ABCA4_000156" "g.94474323A>G" "" "{PMID:Martin Merida 2019:30902645}" "" "ABCA4 Ex.6 c.613T>G p.(Cys205Gly), Ex.41 c.5819T>C p.(Leu1940Pro)" "compound heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94008767A>G" "" "likely pathogenic" ""
"0000812343" "3" "70" "1" "94528266" "94528266" "subst" "4.477E-5" "00000" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Martin Merida 2019:30902645}" "" "ABCA4 Ex.13 c.1804C>T p.(Arg602Trp), Ex.13 c.1804C>T p.(Arg602Trp)" "homozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94062710G>A" "" "likely pathogenic" ""
"0000812349" "0" "70" "1" "94543436" "94543436" "subst" "0" "00000" "ABCA4_002121" "g.94543436A>T" "" "{PMID:Martin Merida 2019:30902645}" "" "ABCA4 Ex.11 c.1364T>A p.(Leu455Gln), Ex.34 c.4793C>A p.(Ala1598Asp)" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.94077880A>T" "" "likely pathogenic" ""
"0000812350" "0" "70" "1" "94487251" "94487251" "subst" "2.85679E-5" "00000" "ABCA4_000490" "g.94487251G>T" "" "{PMID:Martin Merida 2019:30902645}" "" "ABCA4 Ex.11 c.1364T>A p.(Leu455Gln), Ex.34 c.4793C>A p.(Ala1598Asp)" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.94021695G>T" "" "likely pathogenic" ""
"0000812369" "0" "70" "1" "94508435" "94508436" "dup" "0" "00000" "ABCA4_000998" "g.94508435_94508436dup" "" "{PMID:Martin Merida 2019:30902645}" "" "ABCA4 Ex.22 c.3210_3211dup p.(Ser1071Cysfs*14), Ex.33 c.4672G>A p.(Gly1558Arg), USH2A : Ex.13 c.2276G>T p.(Cys759Phe)" "compound heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94042879_94042880dup" "" "likely pathogenic" ""
"0000812371" "0" "70" "1" "94487503" "94487503" "subst" "0" "00000" "ABCA4_001769" "g.94487503C>T" "" "{PMID:Martin Merida 2019:30902645}" "" "ABCA4 Ex.22 c.3210_3211dup p.(Ser1071Cysfs*14), Ex.33 c.4672G>A p.(Gly1558Arg), USH2A : Ex.13 c.2276G>T p.(Cys759Phe)" "compound heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94021947C>T" "" "likely pathogenic" ""
"0000812376" "3" "70" "1" "94496547" "94496547" "subst" "1.21904E-5" "00000" "ABCA4_000560" "g.94496547C>T" "" "{PMID:Martin Merida 2019:30902645}" "" "ABCA4 IVS28 c.4253+5G>A p.(Ile1377Hisfs*3), IVS28 c.4253+5G>A p.(Ile1377Hisfs*3)" "homozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94030991C>T" "" "likely pathogenic" ""
"0000812403" "0" "70" "1" "94528142" "94528142" "subst" "0.00153303" "00000" "ABCA4_000125" "g.94528142A>C" "" "{PMID:Martin Merida 2019:30902645}" "" "USH2A Ex.12 c.2081G>A p.(Cys694Tyr), Ex.50 c.9799T>C p.(Cys3267Arg), ABCA4: Ex.13 c.1928T>Gp.(Val643Gly)" "compound heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94062586A>C" "" "likely pathogenic" ""
"0000812404" "0" "70" "1" "94510164" "94510164" "subst" "1.62441E-5" "00000" "ABCA4_000144" "g.94510164C>T" "" "{PMID:Martin Merida 2019:30902645}" "" "ABCA4 IVS20 c.3050+5G>A p.(Leu973_His1017delinsPhe), Ex.23 c.3386G>T p.(Arg1129Leu)" "compound heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94044608C>T" "" "likely pathogenic" ""
"0000812405" "0" "70" "1" "94506901" "94506901" "subst" "0.000308665" "00000" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Martin Merida 2019:30902645}" "" "ABCA4 IVS20 c.3050+5G>A p.(Leu973_His1017delinsPhe), Ex.23 c.3386G>T p.(Arg1129Leu)" "compound heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94041345C>A" "" "likely pathogenic" ""
"0000812445" "0" "70" "1" "94506901" "94506901" "subst" "0.000308665" "00000" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Martin Merida 2019:30902645}" "" "HGSNAT IVS3 c.372-2A>G p.(?), Ex.18 c.1843G>A p.(Ala615Thr), ABCA4: Ex.23 c.3386G>T p.(Arg1129Leu)" "compound heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94041345C>A" "" "likely pathogenic" ""
"0000812459" "3" "70" "1" "94586601" "94586601" "subst" "8.12156E-6" "00000" "ABCA4_000264" "g.94586601T>C" "" "{PMID:Tayebi 2019:30820146}" "" "c.1A>G, p.(Met1?)" "Homozygous" "Germline" "yes" "" "0" "" "" "g.94121045T>C" "" "likely pathogenic" ""
"0000812460" "0" "70" "1" "94473189" "94473189" "subst" "0" "00000" "ABCA4_000386" "g.94473189C>T" "" "{PMID:Tayebi 2019:30820146}" "" "c.6005+1G>A, p.?" "Compound heterozygous" "Germline" "yes" "" "0" "" "" "g.94007633C>T" "" "likely pathogenic" ""
"0000812461" "0" "70" "1" "94564484" "94564484" "subst" "0.000110199" "00000" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Tayebi 2019:30820146}" "" "c.634C>T, p.(Arg212Cys)" "Compound heterozygous" "Germline" "yes" "" "0" "" "" "g.94098928G>A" "" "likely pathogenic" ""
"0000812462" "0" "70" "1" "94495078" "94495078" "subst" "8.37044E-6" "00000" "ABCA4_000042" "g.94495078A>G" "" "{PMID:Tayebi 2019:30820146}" "" "c.4462T>C, p.(Cys1488Arg)" "Compound heterozygous" "Germline" "yes" "" "0" "" "" "g.94029522A>G" "" "likely pathogenic" ""
"0000812463" "0" "70" "1" "94546220" "94546220" "subst" "0" "00000" "ABCA4_000060" "g.94546220G>A" "" "{PMID:Tayebi 2019:30820146}" "" "c.913C>T, p.(Gln305*)" "Compound heterozygous" "Germline" "yes" "" "0" "" "" "g.94080664G>A" "" "likely pathogenic" ""
"0000812467" "3" "70" "1" "94466559" "94466559" "subst" "0" "00000" "ABCA4_000833" "g.94466559T>C" "" "{PMID:Tayebi 2019:30820146}" "" "c.6385A>G, p.(Ser2129Gly)" "Homozygous" "Germline" "yes" "" "0" "" "" "g.94001003T>C" "" "likely pathogenic" ""
"0000812472" "3" "70" "1" "94509033" "94509033" "subst" "0" "00000" "ABCA4_001957" "g.94509033T>C" "" "{PMID:Tayebi 2019:30820146}" "" "c.3051–2A>G, p" "Homozygous" "Germline" "yes" "" "0" "" "" "g.94043477T>C" "" "likely pathogenic" ""
"0000812479" "3" "70" "1" "94497333" "94497333" "subst" "0" "00000" "ABCA4_001221" "g.94497333C>T" "" "{PMID:Tayebi 2019:30820146}" "" "c.4128+1G>A, p.?" "Homozygous" "Germline" "yes" "" "0" "" "" "g.94031777C>T" "" "likely pathogenic" ""
"0000813016" "3" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Ehrenberg 2019:31814694}" "" "ABCA4 (NM_000350.2; OMIM: 601691): c.5882G>A; p.Gly1961Glu (hom) (RP), ?/(ID)" "homozygous" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000814618" "0" "70" "1" "94497474" "94497474" "subst" "0" "00000" "ABCA4_000583" "g.94497474C>A" "" "{PMID:de Castro-Miró-2014:24516651}" "" "c.3988G>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000814619" "0" "70" "1" "94466461" "94466461" "subst" "0" "00000" "ABCA4_000825" "g.94466461C>T" "" "{PMID:de Castro-Miró-2014:24516651}" "" "c.6410G>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000814965" "11" "70" "1" "94564378" "94564378" "subst" "0" "00000" "ABCA4_000368" "g.94564378T>A" "" "{PMID:Birtel 2020:32013026}" "" "ABCA4 c.740A>T, p.(Asn247Ile)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.94098822T>A" "" "likely pathogenic" ""
"0000814968" "21" "70" "1" "94490550" "94490550" "subst" "0.000105588" "00000" "ABCA4_000523" "g.94490550C>T" "" "{PMID:Birtel 2020:32013026}" "" "ABCA4 c.4594G>A, p.(Asp1532Asn)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.94024994C>T" "" "likely pathogenic" ""
"0000815063" "3" "90" "1" "94463488" "94463488" "subst" "5.2803E-5" "00000" "ABCA4_000802" "g.94463488G>A" "" "{PMID:Shanks 2013:22968130}" "" "Q2220X/Q2220X" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000815064" "0" "90" "1" "94512499" "94512499" "subst" "0.000130029" "00000" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Shanks 2013:22968130}" "" "N965S" "" "Germline" "" "rs61749449" "0" "" "" "" "" "pathogenic" ""
"0000815065" "0" "90" "1" "0" "0" "" "0" "00000" "NPHS2_000000" "g.?" "" "{PMID:Shanks 2013:22968130}" "" "E636X" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000815066" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "00000" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Shanks 2013:22968130}" "" "V256V" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000815282" "0" "50" "1" "94568686" "94568686" "subst" "0.00258122" "00000" "ABCA4_000212" "g.94568686C>T" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "ABCA4:NM_000350 c.G455A, p.R152Q" "heterozygous, individual unsolved, causality of variants unknown" "Germline" "?" "" "0" "" "" "g.94103130C>T" "" "VUS" "ACMG"
"0000815284" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "00000" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "ABCA4:NM_000350 c.G3386T, p.R1129L" "heterozygous, individual solved, variant causal" "Germline" "yes" "" "0" "" "" "g.94041345C>A" "" "pathogenic" "ACMG"
"0000815289" "0" "70" "1" "94577112" "94577112" "subst" "0" "00000" "ABCA4_002231" "g.94577112G>C" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "ABCA4:NM_000350 c.C184G, p.P62A" "heterozygous, individual solved, variant causal" "Germline" "yes" "" "0" "" "" "g.94111556G>C" "" "likely pathogenic" "ACMG"
"0000815290" "0" "70" "1" "94577112" "94577112" "subst" "0" "00000" "ABCA4_002231" "g.94577112G>C" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "c.184C>G; p.(Pro62Ala)" "heterozygous, individual solved, variant causal" "Germline" "yes" "" "0" "" "" "g.94111556G>C" "" "likely pathogenic" "ACMG"
"0000815291" "3" "70" "1" "94495083" "94495083" "subst" "0.000124542" "00000" "ABCA4_000542" "g.94495083G>A" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "ABCA4:NM_000350 c.C4457T, p.P1486L" "homozygous, individual solved, variant causal" "Germline" "yes" "" "0" "" "" "g.94029527G>A" "" "likely pathogenic" "ACMG"
"0000815292" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "00000" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "ABCA4:NM_000350 c.G2588C, p.G863A" "heterozygous, individual solved, variant causal" "Germline" "yes" "" "0" "" "" "g.94051698C>G" "" "pathogenic" "ACMG"
"0000815294" "3" "90" "1" "94506901" "94506901" "subst" "0.000308665" "00000" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "ABCA4:NM_000350 c.G3386T, p.R1129L" "homozygous, individual solved, variant causal" "Germline" "yes" "" "0" "" "" "g.94041345C>A" "" "pathogenic" "ACMG"
"0000815311" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "00000" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "ABCA4:NM_000350 c.G3386T, p.R1129L" "heterozygous, individual solved, variant causal" "Germline" "yes" "" "0" "" "" "g.94041345C>A" "" "pathogenic" "ACMG"
"0000815314" "0" "70" "1" "94473287" "94473287" "subst" "0.00293818" "00000" "ABCA4_000395" "g.94473287G>A" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "ABCA4:NM_000350 c.C5908T, p.L1970F" "heterozygous, individual unsolved, causality of variants unknown" "Germline" "?" "" "0" "" "" "g.94007731G>A" "" "likely pathogenic" "ACMG"
"0000815319" "0" "70" "1" "94476428" "94476428" "subst" "7.71699E-5" "00000" "ABCA4_000422" "g.94476428G>A" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "ABCA4:NM_000350 c.C5642T, p.A1881V" "heterozygous, individual unsolved, causality of variants unknown" "Germline" "?" "" "0" "" "" "g.94010872G>A" "" "likely pathogenic" "ACMG"
"0000815320" "3" "90" "1" "94564484" "94564484" "subst" "0.000110199" "00000" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "ABCA4:NM_000350 c.C634T, p.R212C" "homozygous, individual solved, variant causal" "Germline" "yes" "" "0" "" "" "g.94098928G>A" "" "pathogenic" "ACMG"
"0000815322" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "ABCA4:NM_000350 c.G5882A, p.G1961E" "heterozygous, individual unsolved, causality of variants unknown" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" "ACMG"
"0000815330" "0" "70" "1" "94473287" "94473287" "subst" "0.00293818" "00000" "ABCA4_000395" "g.94473287G>A" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "ABCA4:NM_000350 c.C5908T, p.L1970F" "heterozygous, individual unsolved, causality of variants unknown" "Germline" "?" "" "0" "" "" "g.94007731G>A" "" "likely pathogenic" "ACMG"
"0000815331" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "00000" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "ABCA4:NM_000350 c.G3386T, p.R1129L" "heterozygous, individual solved, variant causal" "Germline" "yes" "" "0" "" "" "g.94041345C>A" "" "pathogenic" "ACMG"
"0000815336" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "00000" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "ABCA4:NM_000350 c.G3386T, p.R1129L" "heterozygous, individual solved, variant causal" "Germline" "yes" "" "0" "" "" "g.94041345C>A" "" "pathogenic" "ACMG"
"0000815342" "0" "70" "1" "94510247" "94510247" "subst" "0" "00000" "ABCA4_000668" "g.94510247C>A" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "ABCA4:NM_000350 c.G2972T, p.G991V" "heterozygous, individual solved, variant causal" "Germline" "yes" "" "0" "" "" "g.94044691C>A" "" "likely pathogenic" "ACMG"
"0000815348" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "00000" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "ABCA4:NM_000350 c.G3386T, p.R1129L" "heterozygous, individual solved, variant causal" "Germline" "yes" "" "0" "" "" "g.94041345C>A" "" "pathogenic" "ACMG"
"0000815355" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "ABCA4:NM_000350 c.G5882A, p.G1961E" "heterozygous, individual solved, variant causal" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" "ACMG"
"0000815359" "0" "90" "1" "94520686" "94520686" "subst" "0" "00000" "ABCA4_000710" "g.94520686G>T" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "ABCA4:NM_000350 c.C2568A, p.Y856X" "heterozygous, individual solved, variant causal" "Germline" "yes" "" "0" "" "" "g.94055130G>T" "" "pathogenic" "ACMG"
"0000815365" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "00000" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "ABCA4:NM_000350 c.C3113T, p.A1038V" "heterozygous, individual solved, variant causal" "Germline" "yes" "" "0" "" "" "g.94043413G>A" "" "pathogenic" "ACMG"
"0000815368" "0" "50" "1" "94467548" "94467548" "subst" "0.00295661" "00000" "ABCA4_000788" "g.94467548C>G" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "ABCA4:NM_000350 c.G6148C, p.V2050L" "heterozygous, individual unsolved, causality of variants unknown" "Germline" "?" "" "0" "" "" "g.94001992C>G" "" "VUS" "ACMG"
"0000815374" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "00000" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "ABCA4:NM_000350 c.G3386T, p.R1129L" "heterozygous, individual solved, variant causal" "Germline" "yes" "" "0" "" "" "g.94041345C>A" "" "pathogenic" "ACMG"
"0000815382" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "00000" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "ABCA4:NM_000350 c.G3386T, p.R1129L" "heterozygous, individual solved, variant causal" "Germline" "yes" "" "0" "" "" "g.94041345C>A" "" "pathogenic" "ACMG"
"0000815383" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "00000" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "c.3386G>T; p.(Arg1129Leu)" "heterozygous, individual solved, variant causal" "Germline" "yes" "" "0" "" "" "g.94041345C>A" "" "pathogenic" "ACMG"
"0000815394" "0" "50" "1" "94467548" "94467548" "subst" "0.00295661" "00000" "ABCA4_000788" "g.94467548C>G" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "ABCA4:NM_000350 c.G6148C, p.V2050L" "heterozygous, individual unsolved, causality of variants unknown" "Germline" "?" "" "0" "" "" "g.94001992C>G" "" "VUS" "ACMG"
"0000815414" "0" "50" "1" "94467548" "94467548" "subst" "0.00295661" "00000" "ABCA4_000788" "g.94467548C>G" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "ABCA4:NM_000350 c.G6148C, p.V2050L" "heterozygous, individual unsolved, causality of variants unknown" "Germline" "?" "" "0" "" "" "g.94001992C>G" "" "VUS" "ACMG"
"0000815436" "3" "50" "1" "94568675" "94568675" "subst" "0.00146249" "00000" "ABCA4_000210" "g.94568675T>C" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "ABCA4:NM_000350 c.A466G, p.I156V" "homozygous, individual solved, variant non-causal" "Germline" "?" "" "0" "" "" "g.94103119T>C" "" "VUS" "ACMG"
"0000815443" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "00000" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "ABCA4:NM_000350 c.C3113T, p.A1038V" "heterozygous, individual solved, variant non-causal" "Germline" "?" "" "0" "" "" "g.94043413G>A" "" "pathogenic" "ACMG"
"0000815447" "0" "90" "1" "94496547" "94496547" "subst" "1.21904E-5" "00000" "ABCA4_000560" "g.94496547C>T" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "ABCA4:NM_000350.2 c.4253+5G>A, p.?" "heterozygous, individual solved, variant causal" "Germline" "yes" "" "0" "" "" "g.94030991C>T" "" "pathogenic" "ACMG"
"0000815455" "0" "90" "1" "94526212" "94526212" "subst" "1.22012E-5" "00000" "ABCA4_000075" "g.94526212G>A" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "ABCA4:NM_000350 c.C2041T, p.R681X" "heterozygous, individual solved, variant causal" "Germline" "yes" "" "0" "" "" "g.94060656G>A" "" "pathogenic" "ACMG"
"0000815459" "0" "90" "1" "94526212" "94526212" "subst" "1.22012E-5" "00000" "ABCA4_000075" "g.94526212G>A" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "c.2041C>T; p.(Arg681*)" "heterozygous, individual solved, variant causal" "Germline" "yes" "" "0" "" "" "g.94060656G>A" "" "pathogenic" "ACMG"
"0000815460" "0" "70" "1" "94508334" "94508334" "subst" "0" "00000" "ABCA4_001921" "g.94508334A>G" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "ABCA4:NM_000350 c.T3311C, p.L1104P" "heterozygous, individual solved, variant causal" "Germline" "yes" "" "0" "" "" "g.94042778A>G" "" "likely pathogenic" "ACMG"
"0000815461" "0" "50" "1" "94568686" "94568686" "subst" "0.00258122" "00000" "ABCA4_000212" "g.94568686C>T" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "ABCA4:NM_000350 c.G455A, p.R152Q" "heterozygous, individual solved, variant non-causal" "Germline" "?" "" "0" "" "" "g.94103130C>T" "" "VUS" "ACMG"
"0000815466" "0" "90" "1" "94520666" "94520872" "del" "0" "00000" "ABCA4_002707" "g.(94517255_94520666)_(94520872_94522156)del" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "ABCA4:NM_000350 Deletion ex. 16, p.?" "heterozygous, individual solved, variant causal" "Germline" "yes" "" "0" "" "" "g.(94051699_94055110)_(94055316_94056600)del" "" "pathogenic" "ACMG"
"0000815467" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "00000" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "ABCA4:NM_000350 c.C1804T, p.R602W" "heterozygous, individual solved, variant causal" "Germline" "yes" "" "0" "" "" "g.94062710G>A" "" "pathogenic" "ACMG"
"0000815477" "0" "70" "1" "94506940" "94506940" "subst" "0" "00000" "ABCA4_001907" "g.94506940G>A" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "ABCA4:NM_000350 c.C3347T, p.S1116F" "heterozygous, individual solved, variant causal" "Germline" "yes" "" "0" "" "" "g.94041384G>A" "" "likely pathogenic" "ACMG"
"0000815483" "0" "90" "1" "94476355" "94476355" "subst" "4.0626E-6" "00000" "ABCA4_001666" "g.94476355C>T" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "ABCA4:NM_000350 c.5714+1G>A, p.?" "heterozygous, individual solved, variant causal" "Germline" "yes" "" "0" "" "" "g.94010799C>T" "" "pathogenic" "ACMG"
"0000815493" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "ABCA4:NM_000350 c.G5882A, p.G1961E" "heterozygous, individual solved, variant non-causal" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" "ACMG"
"0000815494" "0" "90" "1" "94496548" "94496548" "subst" "2.43787E-5" "00000" "ABCA4_000088" "g.94496548G>A" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "ABCA4:NM_000350 c.4253+4C>T, p.?" "heterozygous, individual solved, variant causal" "Germline" "yes" "" "0" "" "" "g.94030992G>A" "" "pathogenic" "ACMG"
"0000815497" "0" "50" "1" "94528774" "94528774" "subst" "0.00264827" "00000" "ABCA4_000298" "g.94528774C>T" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "ABCA4:NM_000350 c.G1654A, p.V552I" "heterozygous, individual solved, variant non-causal" "Germline" "?" "" "0" "" "" "g.94063218C>T" "" "VUS" "ACMG"
"0000815500" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "ABCA4:NM_000350 c.G5882A, p.G1961E" "heterozygous, individual solved, variant causal" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" "ACMG"
"0000815506" "0" "90" "1" "94473278" "94473278" "del" "3.25908E-5" "00000" "ABCA4_000392" "g.94473278del" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "ABCA4:NM_000350 c.5917delG, p.V1973X" "heterozygous, individual solved, variant causal" "Germline" "yes" "" "0" "" "" "g.94007722del" "" "pathogenic" "ACMG"
"0000815507" "0" "90" "1" "94487401" "94487401" "subst" "0" "00000" "ABCA4_000495" "g.94487401C>A" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "ABCA4:NM_000350 c.4773+1G>T, p.?" "heterozygous, individual solved, variant causal" "Germline" "yes" "" "0" "" "" "g.94021845C>A" "" "pathogenic" "ACMG"
"0000815512" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "00000" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "ABCA4:NM_000350 c.T1622C, p.L541P" "heterozygous, individual solved, variant causal" "Germline" "yes" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" "ACMG"
"0000815513" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "ABCA4:NM_000350 c.G5882A, p.G1961E" "heterozygous, individual solved, variant causal" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" "ACMG"
"0000815521" "0" "70" "1" "94577114" "94577114" "subst" "0" "00000" "ABCA4_002233" "g.94577114A>G" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "ABCA4:NM_000350 c.T182C, p.M61T" "heterozygous, individual solved, variant causal" "Germline" "yes" "" "0" "" "" "g.94111558A>G" "" "likely pathogenic" "ACMG"
"0000815528" "0" "90" "1" "94497474" "94497474" "subst" "0" "00000" "ABCA4_000583" "g.94497474C>A" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "ABCA4:NM_000350 c.G3988T, p.E1330X" "heterozygous, individual solved, variant causal" "Germline" "yes" "" "0" "" "" "g.94031918C>A" "" "pathogenic" "ACMG"
"0000815532" "0" "90" "1" "94497474" "94497474" "subst" "0" "00000" "ABCA4_000583" "g.94497474C>A" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "c.3988G>T; p.(Glu1330*)" "heterozygous, individual solved, variant causal" "Germline" "yes" "" "0" "" "" "g.94031918C>A" "" "pathogenic" "ACMG"
"0000815561" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "ABCA4:NM_000350 c.G5882A, p.G1961E" "heterozygous, individual solved, variant non-causal" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" "ACMG"
"0000815943" "0" "70" "1" "94502756" "94502756" "subst" "0.000422575" "00000" "ABCA4_000032" "g.94502756G>A" "" "{PMID:Zampaglione 2020:32037395}" "" "ABCA4 c.3758C>T, p.Thr1253Met" "heterozygous" "Unknown" "?" "" "0" "" "" "g.94037200G>A" "" "likely pathogenic" ""
"0000816077" "0" "50" "1" "94486953" "94486953" "subst" "4.06468E-6" "00000" "ABCA4_002293" "g.94486953T>A" "" "{PMID:Zampaglione 2020:32037395}" "" "ABCA4 c.4861A>T, p.Asn1621Tyr" "heterozygous" "Unknown" "?" "" "0" "" "" "g.94021397T>A" "" "VUS" ""
"0000816090" "0" "70" "1" "94508435" "94508436" "dup" "0" "00000" "ABCA4_000998" "g.94508435_94508436dup" "" "{PMID:Zampaglione 2020:32037395}" "" "ABCA4 c.3210_3211dup, p.Ser1071CysfsTer14" "heterozygous" "Unknown" "?" "" "0" "" "" "g.94042879_94042880dup" "" "likely pathogenic" ""
"0000816102" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "00000" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Zampaglione 2020:32037395}" "" "ABCA4 c.4139C>T, p.Pro1380Leu" "heterozygous" "Unknown" "?" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic" ""
"0000816105" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "00000" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Zampaglione 2020:32037395}" "" "ABCA4 c.4139C>T, p.Pro1380Leu" "heterozygous" "Unknown" "?" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic" ""
"0000816119" "0" "70" "1" "94512478" "94512478" "subst" "3.65871E-5" "00000" "ABCA4_000678" "g.94512478G>T" "" "{PMID:Zampaglione 2020:32037395}" "" "ABCA4 c.2915C>A, p.Thr972Asn" "heterozygous" "Unknown" "?" "" "0" "" "" "g.94046922G>T" "" "likely pathogenic" ""
"0000816123" "0" "70" "1" "94577046" "94577049" "dup" "0" "00000" "ABCA4_000227" "g.94577046_94577049dup" "" "{PMID:Zampaglione 2020:32037395}" "" "ABCA4 c.247_250dup, p.Ser84ThrfsTer16" "heterozygous" "Unknown" "?" "" "0" "" "" "g.94111490_94111493dup" "" "likely pathogenic" ""
"0000816139" "0" "90" "1" "94528806" "94528806" "subst" "0.000150298" "00000" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Zampaglione 2020:32037395}" "" "ABCA4 c.1622T>C, p.Leu541Pro" "heterozygous" "Unknown" "?" "" "0" "" "" "g.94063250A>G" "" "pathogenic" ""
"0000816147" "0" "70" "1" "94546283" "94546283" "subst" "8.18311E-5" "00000" "ABCA4_000356" "g.94546283A>G" "" "{PMID:Zampaglione 2020:32037395}" "" "ABCA4 c.859-9T>C" "heterozygous" "Unknown" "?" "" "0" "" "" "g.94080727A>G" "" "likely pathogenic" ""
"0000816150" "3" "70" "1" "94476355" "94476355" "subst" "0" "00000" "ABCA4_002292" "g.94476355C>A" "" "{PMID:Zampaglione 2020:32037395}" "" "ABCA4 c.5714+1G>T" "homozygous" "Unknown" "?" "" "0" "" "" "g.94010799C>A" "" "likely pathogenic" ""
"0000816159" "0" "90" "1" "94496666" "94496666" "subst" "0.000219568" "00000" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Zampaglione 2020:32037395}" "" "ABCA4 c.4139C>T, p.Pro1380Leu" "heterozygous" "Unknown" "?" "" "0" "" "" "g.94031110G>A" "" "pathogenic" ""
"0000816164" "0" "90" "1" "94528806" "94528806" "subst" "0.000150298" "00000" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Zampaglione 2020:32037395}" "" "ABCA4 c.1622T>C, p.Leu541Pro" "heterozygous" "Unknown" "?" "" "0" "" "" "g.94063250A>G" "" "pathogenic" ""
"0000816174" "0" "50" "1" "94490550" "94490550" "subst" "0.000105588" "00000" "ABCA4_000523" "g.94490550C>T" "" "{PMID:Zampaglione 2020:32037395}" "" "ABCA4 c.4594G>A, p.Asp1532Asn" "heterozygous" "Unknown" "?" "" "0" "" "" "g.94024994C>T" "" "VUS" ""
"0000816192" "3" "70" "1" "94490567" "94490567" "subst" "5.68528E-5" "00000" "ABCA4_000026" "g.94490567G>A" "" "{PMID:Zampaglione 2020:32037395}" "" "ABCA4 c.4577C>T, p.Thr1526Met" "homozygous" "Unknown" "?" "" "0" "" "" "g.94025011G>A" "" "likely pathogenic" ""
"0000816203" "0" "70" "1" "94484001" "94484001" "subst" "0" "00000" "ABCA4_000016" "g.94484001C>T" "" "{PMID:Zampaglione 2020:32037395}" "" "ABCA4 c.5196+1137G>A" "heterozygous" "Unknown" "?" "" "0" "" "" "g.94018445C>T" "" "likely pathogenic" ""
"0000816205" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "00000" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Zampaglione 2020:32037395}" "" "ABCA4 c.2588G>C, p.Gly863Ala" "heterozygous" "Unknown" "?" "" "0" "" "" "g.94051698C>G" "" "pathogenic" ""
"0000816222" "0" "70" "1" "94476106" "94586955" "del" "0" "00000" "ABCA4_002291" "g.94476106_94586955del" "" "{PMID:Zampaglione 2020:32037395}" "" "ABCA4 chr1:94476106_94586955del" "range 110244-110849 bp in various techniques, heterozygous" "Unknown" "?" "" "0" "" "" "g.94010550_94121399del" "" "likely pathogenic" ""
"0000816241" "0" "50" "1" "94528713" "94528713" "subst" "4.87381E-5" "00000" "ABCA4_000072" "g.94528713C>T" "" "{PMID:Zampaglione 2020:32037395}" "" "ABCA4 c.1715G>A, p.Arg572Gln" "heterozygous" "Unknown" "?" "" "0" "" "" "g.94063157C>T" "" "VUS" ""
"0000816248" "0" "70" "1" "94484001" "94484001" "subst" "0" "00000" "ABCA4_000016" "g.94484001C>T" "" "{PMID:Zampaglione 2020:32037395}" "" "ABCA4 c.5196+1137G>A" "heterozygous" "Unknown" "?" "" "0" "" "" "g.94018445C>T" "" "likely pathogenic" ""
"0000816249" "0" "70" "1" "94512553" "94512553" "subst" "4.06207E-6" "00000" "ABCA4_002294" "g.94512553T>C" "" "{PMID:Zampaglione 2020:32037395}" "" "ABCA4 c.2840A>G, p.Asp947Gly" "heterozygous" "Unknown" "?" "" "0" "" "" "g.94046997T>C" "" "likely pathogenic" ""
"0000816300" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Zampaglione 2020:32037395}" "" "c.5882G>A, p.Gly1961Glu" "heterozygous" "Unknown" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000816408" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Zampaglione 2020:32037395}" "" "c.5882G>A, p.Gly1961Glu" "heterozygous" "Unknown" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000816416" "0" "70" "1" "94508323" "94508323" "subst" "0.000125953" "00000" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Zampaglione 2020:32037395}" "" "c.3322C>T, p.Arg1108Cys" "heterozygous" "Unknown" "?" "" "0" "" "" "g.94042767G>A" "" "likely pathogenic" ""
"0000816424" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Zampaglione 2020:32037395}" "" "c.5882G>A, p.Gly1961Glu" "heterozygous" "Unknown" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000816427" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Zampaglione 2020:32037395}" "" "c.5882G>A, p.Gly1961Glu" "heterozygous" "Unknown" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000816436" "0" "70" "1" "94490567" "94490567" "subst" "5.68528E-5" "00000" "ABCA4_000026" "g.94490567G>A" "" "{PMID:Zampaglione 2020:32037395}" "" "c.4577C>T, p.Thr1526Met" "heterozygous" "Unknown" "?" "" "0" "" "" "g.94025011G>A" "" "likely pathogenic" ""
"0000816439" "0" "90" "1" "94486895" "94486895" "subst" "3.24923E-5" "00000" "ABCA4_000484" "g.94486895C>T" "" "{PMID:Zampaglione 2020:32037395}" "" "c.4919G>A, p.Arg1640Gln" "heterozygous" "Unknown" "?" "" "0" "" "" "g.94021339C>T" "" "pathogenic" ""
"0000816451" "0" "70" "1" "94508969" "94508969" "subst" "0.00168642" "00000" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Zampaglione 2020:32037395}" "" "c.3113C>T, p.Ala1038Val" "heterozygous" "Unknown" "?" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic" ""
"0000816452" "0" "70" "1" "94508384" "94508384" "subst" "0" "00000" "ABCA4_000641" "g.94508384T>G" "" "{PMID:Zampaglione 2020:32037395}" "" "c.3261A>C, p.Glu1087Asp" "heterozygous" "Unknown" "?" "" "0" "" "" "g.94042828T>G" "" "likely pathogenic" ""
"0000816456" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Zampaglione 2020:32037395}" "" "c.5882G>A, p.Gly1961Glu" "heterozygous" "Unknown" "?" "" "0" "" "" "g.94008251C>T" "" "pathogenic" ""
"0000816458" "0" "70" "1" "94476355" "94476355" "subst" "0" "00000" "ABCA4_002292" "g.94476355C>A" "" "{PMID:Zampaglione 2020:32037395}" "" "c.5714+1G>T" "heterozygous" "Unknown" "?" "" "0" "" "" "g.94010799C>A" "" "likely pathogenic" ""
"0000816463" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Zampaglione 2020:32037395}" "" "c.5882G>A, p.Gly1961Glu" "heterozygous" "Unknown" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000816467" "0" "70" "1" "94508969" "94508969" "subst" "0.00168642" "00000" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Zampaglione 2020:32037395}" "" "c.3113C>T, p.Ala1038Val" "heterozygous" "Unknown" "?" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic" ""
"0000816468" "0" "50" "1" "94496039" "94496039" "subst" "0.00157963" "00000" "ABCA4_000552" "g.94496039C>T" "" "{PMID:Zampaglione 2020:32037395}" "" "c.4297G>A, p.Val1433Ile" "heterozygous" "Unknown" "?" "" "0" "" "" "g.94030483C>T" "" "VUS" ""
"0000816469" "0" "70" "1" "94466618" "94466618" "subst" "0" "00000" "ABCA4_001415" "g.94466618A>G" "" "{PMID:Zampaglione 2020:32037395}" "" "c.6326T>C, p.Leu2109Pro" "heterozygous" "Unknown" "?" "" "0" "" "" "g.94001062A>G" "" "likely pathogenic" ""
"0000816477" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Zampaglione 2020:32037395}" "" "c.5882G>A, p.Gly1961Glu" "heterozygous" "Unknown" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000816493" "0" "70" "1" "94490567" "94490567" "subst" "5.68528E-5" "00000" "ABCA4_000026" "g.94490567G>A" "" "{PMID:Zampaglione 2020:32037395}" "" "c.4577C>T, p.Thr1526Met" "heterozygous" "Unknown" "?" "" "0" "" "" "g.94025011G>A" "" "likely pathogenic" ""
"0000816503" "0" "50" "1" "94480241" "94480241" "subst" "0" "00000" "ABCA4_000447" "g.94480241G>T" "" "{PMID:Zampaglione 2020:32037395}" "" "c.5318C>A, p.Ala1773Glu" "heterozygous" "Unknown" "?" "" "0" "" "" "g.94014685G>T" "" "VUS" ""
"0000816504" "0" "50" "1" "94486836" "94486836" "subst" "8.12255E-6" "00000" "ABCA4_001739" "g.94486836G>A" "" "{PMID:Zampaglione 2020:32037395}" "" "c.4978C>T, p.Pro1660Ser" "heterozygous" "Unknown" "?" "" "0" "" "" "g.94021280G>A" "" "VUS" ""
"0000816515" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Zampaglione 2020:32037395}" "" "c.5603A>T, p.Asn1868Ile" "heterozygous" "Unknown" "?" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic" ""
"0000816526" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "00000" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Zampaglione 2020:32037395}" "" "c.2588G>C, p.Gly863Ala" "heterozygous" "Unknown" "?" "" "0" "" "" "g.94051698C>G" "" "pathogenic" ""
"0000816533" "0" "50" "1" "94528713" "94528713" "subst" "0" "00000" "ABCA4_000295" "g.94528713C>G" "" "{PMID:Zampaglione 2020:32037395}" "" "c.1715G>C, p.Arg572Pro" "heterozygous" "Unknown" "?" "" "0" "" "" "g.94063157C>G" "" "VUS" ""
"0000816534" "0" "70" "1" "94496023" "94496023" "subst" "0" "00000" "ABCA4_001828" "g.94496023G>C" "" "{PMID:Zampaglione 2020:32037395}" "" "c.4313C>G, p.Pro1438Arg" "heterozygous" "Unknown" "?" "" "0" "" "" "g.94030467G>C" "" "likely pathogenic" ""
"0000816535" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Zampaglione 2020:32037395}" "" "c.5882G>A, p.Gly1961Glu" "heterozygous" "Unknown" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000816542" "0" "50" "1" "94481380" "94481390" "del" "0" "00000" "ABCA4_000458" "g.94481380_94481390del" "" "{PMID:Zampaglione 2020:32037395}" "" "ABCA4 c.5222_5232del, p.Leu1741HisfsTer42" "unsolved" "Unknown" "?" "" "0" "" "" "g.94015824_94015834del" "" "VUS" ""
"0000816554" "11" "70" "1" "13174" "13174" "subst" "0" "00000" "ABCA4_002238" "g.13174G>T" "" "{PMID:Liu 2020:32090030}" "" "c.157G>T, p.E53*" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.94112976C>A" "" "likely pathogenic" ""
"0000816560" "21" "70" "1" "117898" "117898" "subst" "0" "00000" "ABCA4_000196" "g.117898G>A" "" "{PMID:Liu 2020:32090030}" "" "c.5881G>A, p.G1961R" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.94008252C>T" "" "likely pathogenic" ""
"0000817484" "0" "50" "1" "94517223" "94517223" "subst" "0" "00000" "ABCA4_002295" "g.94517223A>T" "" "{PMID:Matsui 2015:26393467}" "" "p.F873L" "" "Germline" "" "" "0" "" "" "" "" "VUS" ""
"0000817488" "0" "50" "1" "94473287" "94473287" "subst" "0.00293818" "00000" "ABCA4_000395" "g.94473287G>A" "" "{PMID:Matsui 2015:26393467}" "" "p.L1970F" "" "Germline" "" "" "0" "" "" "" "" "VUS" ""
"0000817491" "0" "50" "1" "94528774" "94528774" "subst" "0.00264827" "00000" "ABCA4_000298" "g.94528774C>T" "" "{PMID:Matsui 2015:26393467}" "" "p.V552I" "" "Germline" "" "" "0" "" "" "" "" "VUS" ""
"0000817496" "0" "50" "1" "94476951" "94476951" "subst" "0.000236097" "00000" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Matsui 2015:26393467}" "" "IVS38-10T>C" "" "Germline" "" "" "0" "" "" "" "" "VUS" ""
"0000817497" "0" "50" "1" "0" "0" "" "0" "00000" "NPHS2_000000" "g.?" "" "{PMID:Matsui 2015:26393467}" "" "p.W439X" "" "Germline" "" "" "0" "" "" "" "" "VUS" ""
"0000818226" "0" "90" "1" "94544234" "94544234" "subst" "0.255245" "00000" "ABCA4_000322" "g.94544234T>C" "" "{PMID:D\'Angelo 2017:28290600}" "" "c.1268A>G" "Possible protective role" "Germline" "" "rs3112831" "0" "" "" "" "" "VUS (!)" ""
"0000818233" "0" "90" "1" "94544234" "94544234" "subst" "0.255245" "00000" "ABCA4_000322" "g.94544234T>C" "" "{PMID:D\'Angelo 2017:28290600}" "" "c.1268A>G" "Possible protective role" "Germline" "" "rs3112831" "0" "" "" "" "" "VUS (!)" ""
"0000818586" "0" "90" "1" "94564383" "94564383" "subst" "0" "00000" "ABCA4_000371" "g.94564383A>C" "" "{PMID:Toulis 2020:32244552}" "" "c.735T>G" "" "Germline" "yes" "" "0" "" "" "g.94098827A>C" "" "pathogenic" ""
"0000818587" "0" "90" "1" "94512499" "94512499" "subst" "0.000130029" "00000" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Toulis 2020:32244552}" "" "c.2894A>G" "" "Germline" "yes" "" "0" "" "" "g.94046943T>C" "" "pathogenic" ""
"0000818590" "0" "90" "1" "94564383" "94564383" "subst" "0" "00000" "ABCA4_000371" "g.94564383A>C" "" "{PMID:Toulis 2020:32244552}" "" "c.735T>G" "" "Germline" "yes" "" "0" "" "" "g.94098827A>C" "" "pathogenic" ""
"0000818592" "0" "90" "1" "94487279" "94487279" "subst" "0" "00000" "ABCA4_001757" "g.94487279C>T" "" "{PMID:Toulis 2020:32244552}" "" "c.4774-9G>A" "two different aberrant transcripts, no wild-type transcript" "Germline" "yes" "" "0" "" "" "g.94021723C>T" "" "pathogenic" ""
"0000818593" "0" "90" "1" "94486973" "94486973" "subst" "0" "00000" "ABCA4_001750" "g.94486973G>C" "" "{PMID:Toulis 2020:32244552}" "" "c.4849-8C>G" "intron 34 retention" "Germline" "yes" "" "0" "" "" "g.94021417G>C" "" "pathogenic" ""
"0000818595" "0" "90" "1" "94487279" "94487279" "subst" "0" "00000" "ABCA4_001757" "g.94487279C>T" "" "{PMID:Toulis 2020:32244552}" "" "c.4774-9G>A" "two different aberrant transcripts" "Germline" "yes" "" "0" "" "" "g.94021723C>T" "" "pathogenic" ""
"0000818636" "11" "90" "1" "94520830" "94520830" "subst" "0" "00000" "ABCA4_000727" "g.94520830G>C" "" "{PMID:Tao 2020:32448990}" "" "c.2424C>G, p.Y808*" "Heterozygous" "Germline" "yes" "" "0" "" "" "g.94055274G>C" "" "pathogenic (recessive)" "ACMG"
"0000819042" "3" "70" "1" "94546265" "94546265" "subst" "2.04063E-5" "00000" "ABCA4_000355" "g.94546265G>A" "" "{PMID:Dineiro 2020:32483926}" "" "ABCA4 c.868C>T, p.(Arg290Trp)" "homozygous" "Germline" "?" "" "0" "" "" "g.94080709G>A" "" "likely pathogenic" "ACMG"
"0000819059" "3" "90" "1" "94466422" "94466422" "subst" "2.43651E-5" "00000" "ABCA4_000817" "g.94466422C>T" "" "{PMID:Dineiro 2020:32483926}" "" "ABCA4 c.6449G>A, p.(Cys2150Tyr)" "homozygous" "Germline" "?" "" "0" "" "" "g.94000866C>T" "" "pathogenic" "ACMG"
"0000819061" "0" "90" "1" "94485279" "94485293" "del" "0" "00000" "ABCA4_000476" "g.94485279_94485293del" "" "{PMID:Dineiro 2020:32483926}" "" "ABCA4 c.5044_5058delGTTGCCATCTGCGTG, p.(Val1682_Val1686del)" "heterozygous" "Germline" "?" "" "0" "" "" "g.94019723_94019737del" "" "pathogenic" "ACMG"
"0000819073" "0" "90" "1" "94474323" "94474323" "subst" "2.03034E-5" "00000" "ABCA4_000156" "g.94474323A>G" "" "{PMID:Dineiro 2020:32483926}" "" "ABCA4 c.5819T>C, p.(Leu1940Pro)" "heterozygous" "Germline" "?" "" "0" "" "" "g.94008767A>G" "" "pathogenic" "ACMG"
"0000819075" "0" "70" "1" "94509026" "94509026" "subst" "4.06497E-5" "00000" "ABCA4_000660" "g.94509026G>A" "" "{PMID:Dineiro 2020:32483926}" "" "ABCA4 c.3056C>T, p.(Thr1019Met)" "heterozygous" "Germline" "?" "" "0" "" "" "g.94043470G>A" "" "likely pathogenic" "ACMG"
"0000819081" "0" "90" "1" "94546151" "94546151" "subst" "4.06855E-6" "00000" "ABCA4_000347" "g.94546151C>A" "" "{PMID:Dineiro 2020:32483926}" "" "ABCA4 c.982G>T, p.(Glu328*)" "heterozygous" "Germline" "?" "" "0" "" "" "g.94080595C>A" "" "pathogenic" "ACMG"
"0000819082" "3" "90" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Dineiro 2020:32483926}" "" "ABCA4 c.5882G>A, p.(Gly1961Glu)" "homozygous" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "pathogenic" "ACMG"
"0000819083" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "00000" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Dineiro 2020:32483926}" "" "ABCA4 c.3386G>T, p.(Arg1129Leu)" "heterozygous" "Germline" "?" "" "0" "" "" "g.94041345C>A" "" "pathogenic" "ACMG"
"0000819086" "0" "90" "1" "94497519" "94497519" "subst" "0" "00000" "ABCA4_000585" "g.94497519G>A" "" "{PMID:Dineiro 2020:32483926}" "" "ABCA4 c.3943C>T, p.(Gln1315*)" "heterozygous" "Germline" "?" "" "0" "" "" "g.94031963G>A" "" "pathogenic" "ACMG"
"0000819091" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "00000" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Dineiro 2020:32483926}" "" "ABCA4 c.3386G>T, p.(p.Arg1129Leu)" "heterozygous" "Germline" "?" "" "0" "" "" "g.94041345C>A" "" "pathogenic" "ACMG"
"0000819093" "0" "70" "1" "94463428" "94463428" "subst" "1.62621E-5" "00000" "ABCA4_000854" "g.94463428T>C" "" "{PMID:Dineiro 2020:32483926}" "" "ABCA4 c.6718A>G, p.(Thr2240Ala)" "heterozygous" "Germline" "?" "" "0" "" "" "g.93997872T>C" "" "likely pathogenic" "ACMG"
"0000819096" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Dineiro 2020:32483926}" "" "ABCA4 c.5882G>A, p.(Gly1961Glu)" "heterozygous" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "pathogenic" "ACMG"
"0000819097" "0" "70" "1" "94471140" "94471140" "subst" "0" "00000" "ABCA4_002296" "g.94471140T>C" "" "{PMID:Dineiro 2020:32483926}" "" "ABCA4 c.6006‐2A" "heterozygous" "Germline" "?" "" "0" "" "" "g.94005584T>C" "" "likely pathogenic" "ACMG"
"0000821077" "0" "70" "1" "94508346" "94508346" "subst" "0" "00000" "ABCA4_000632" "g.94508346A>T" "" "{PMID:Turro 2020:32581362}" "" "ABCA4 c.3299T>A, p.Ile1100Asn" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94042790A>T" "" "likely pathogenic" ""
"0000821078" "0" "70" "1" "94512580" "94512580" "subst" "2.8431E-5" "00000" "ABCA4_000695" "g.94512580A>G" "" "{PMID:Turro 2020:32581362}" "" "ABCA4 c.2813T>C, p.Phe938Ser" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94047024A>G" "" "likely pathogenic" ""
"0000821079" "0" "70" "1" "94508386" "94508386" "subst" "0" "00000" "ABCA4_000643" "g.94508386C>A" "" "{PMID:Turro 2020:32581362}" "" "ABCA4 c.3259G>T, p.Glu1087Ter" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94042830C>A" "" "likely pathogenic" ""
"0000821080" "3" "70" "1" "94476951" "94476951" "subst" "0.000236097" "00000" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Turro 2020:32581362}" "" "ABCA4 c.5461-10T>C," "homozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94011395A>G" "" "likely pathogenic" ""
"0000821081" "3" "90" "1" "94546248" "94546248" "del" "2.03666E-5" "00000" "ABCA4_000352" "g.94546248del" "" "{PMID:Turro 2020:32581362}" "" "ABCA4 c.885delC, p.Leu296CysfsTer4" "homozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94080692del" "" "pathogenic" ""
"0000821082" "0" "70" "1" "94480178" "94480178" "subst" "2.43692E-5" "00000" "ABCA4_000005" "g.94480178G>T" "" "{PMID:Turro 2020:32581362}" "" "ABCA4 c.5381C>A, p.Ala1794Asp" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94014622G>T" "" "likely pathogenic" ""
"0000821083" "0" "70" "1" "94496547" "94496547" "subst" "1.21904E-5" "00000" "ABCA4_000560" "g.94496547C>T" "" "{PMID:Turro 2020:32581362}" "" "ABCA4 c.4253+5G>A," "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94030991C>T" "" "likely pathogenic" ""
"0000821084" "0" "70" "1" "94476951" "94476951" "subst" "0.000236097" "00000" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Turro 2020:32581362}" "" "ABCA4 c.5461-10T>C," "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94011395A>G" "" "likely pathogenic" ""
"0000821085" "0" "70" "1" "94520694" "94520694" "subst" "8.12414E-6" "00000" "ABCA4_000712" "g.94520694C>T" "" "{PMID:Turro 2020:32581362}" "" "ABCA4 c.2560G>A, p.Ala854Thr" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94055138C>T" "" "likely pathogenic" ""
"0000821086" "3" "90" "1" "94509001" "94509001" "subst" "0" "00000" "ABCA4_001405" "g.94509001A>C" "" "{PMID:Turro 2020:32581362}" "" "ABCA4 c.3081T>G, p.Tyr1027Ter" "homozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94043445A>C" "" "pathogenic" ""
"0000821087" "3" "70" "1" "94473263" "94473263" "subst" "0" "00000" "ABCA4_000097" "g.94473263T>C" "" "{PMID:Turro 2020:32581362}" "" "ABCA4 c.5932A>G, p.Lys1978Glu" "homozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94007707T>C" "" "likely pathogenic" ""
"0000821088" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "00000" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Turro 2020:32581362}" "" "ABCA4 c.1622T>C, p.Leu541Pro" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000821089" "3" "70" "1" "94564399" "94564399" "subst" "0" "00000" "ABCA4_001412" "g.94564399A>C" "" "{PMID:Turro 2020:32581362}" "" "ABCA4 c.719T>G, p.Ile240Arg" "homozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94098843A>C" "" "likely pathogenic" ""
"0000821090" "0" "70" "1" "94520694" "94520694" "subst" "8.12414E-6" "00000" "ABCA4_000712" "g.94520694C>T" "" "{PMID:Turro 2020:32581362}" "" "ABCA4 c.2560G>A, p.Ala854Thr" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94055138C>T" "" "likely pathogenic" ""
"0000821091" "0" "70" "1" "94487404" "94487404" "subst" "0.00244055" "00000" "ABCA4_000497" "g.94487404C>T" "" "{PMID:Turro 2020:32581362}" "" "ABCA4 c.4771G>A, p.Gly1591Arg" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94021848C>T" "" "likely pathogenic" ""
"0000821092" "3" "70" "1" "94476951" "94476951" "subst" "0.000236097" "00000" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Turro 2020:32581362}" "" "ABCA4 c.5461-10T>C," "homozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94011395A>G" "" "likely pathogenic" ""
"0000821093" "0" "70" "1" "94487490" "94487490" "subst" "0.00122268" "00000" "ABCA4_000506" "g.94487490A>G" "" "{PMID:Turro 2020:32581362}" "" "ABCA4 c.4685T>C, p.Ile1562Thr" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94021934A>G" "" "likely pathogenic" ""
"0000821094" "0" "90" "1" "94495009" "94495009" "dup" "0" "00000" "ABCA4_000087" "g.94495009dup" "" "{PMID:Turro 2020:32581362}" "" "ABCA4 c.4537dupC, p.Gln1513ProfsTer42" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94029453dup" "" "pathogenic" ""
"0000821095" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "00000" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Turro 2020:32581362}" "" "ABCA4 c.4139C>T, p.Pro1380Leu" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic" ""
"0000821096" "0" "90" "1" "94526316" "94526316" "subst" "4.25152E-6" "00000" "ABCA4_000118" "g.94526316C>T" "" "{PMID:Turro 2020:32581362}" "" "ABCA4 c.1938-1G>A," "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94060760C>T" "" "pathogenic" ""
"0000821097" "3" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Turro 2020:32581362}" "" "ABCA4 c.5882G>A, p.Gly1961Glu" "homozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000821098" "0" "70" "1" "94577073" "94577073" "subst" "0" "00000" "ABCA4_000231" "g.94577073A>C" "" "{PMID:Turro 2020:32581362}" "" "ABCA4 c.223T>G, p.Cys75Gly" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94111517A>C" "" "likely pathogenic" ""
"0000821099" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "00000" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Turro 2020:32581362}" "" "ABCA4 c.1622T>C, p.Leu541Pro" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" ""
"0000821100" "0" "90" "1" "94526270" "94526270" "dup" "0" "00000" "ABCA4_000764" "g.94526270dup" "" "{PMID:Turro 2020:32581362}" "" "ABCA4 c.1984dupG, p.Ala662GlyfsTer104" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94060714dup" "" "pathogenic" ""
"0000821101" "0" "70" "1" "94546115" "94546115" "subst" "0" "00000" "ABCA4_000984" "g.94546115A>G" "" "{PMID:Turro 2020:32581362}" "" "ABCA4 c.1018T>C, p.Tyr340His" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94080559A>G" "" "likely pathogenic" ""
"0000821102" "0" "70" "1" "94487448" "94487448" "subst" "0" "00000" "ABCA4_001400" "g.94487448A>C" "" "{PMID:Turro 2020:32581362}" "" "ABCA4 c.4727T>G, p.Leu1576Arg" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94021892A>C" "" "likely pathogenic" ""
"0000821103" "0" "90" "1" "94508435" "94508436" "dup" "0" "00000" "ABCA4_000998" "g.94508435_94508436dup" "" "{PMID:Turro 2020:32581362}" "" "ABCA4 c.3210_3211dupGT, p.Ser1071CysfsTer14" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94042879_94042880dup" "" "pathogenic" ""
"0000821104" "3" "90" "1" "94508342" "94508342" "subst" "0" "00000" "ABCA4_000631" "g.94508342C>T" "" "{PMID:Turro 2020:32581362}" "" "ABCA4 c.3303G>A, p.Trp1101Ter" "homozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94042786C>T" "" "pathogenic" ""
"0000821105" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "00000" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Turro 2020:32581362}" "" "ABCA4 c.2588G>C, p.Gly863Ala" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic" ""
"0000821106" "3" "90" "1" "94463488" "94463488" "subst" "5.2803E-5" "00000" "ABCA4_000802" "g.94463488G>A" "" "{PMID:Turro 2020:32581362}" "" "ABCA4 c.6658C>T, p.Gln2220Ter" "homozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.93997932G>A" "" "pathogenic" ""
"0000821107" "0" "70" "1" "94490567" "94490567" "subst" "5.68528E-5" "00000" "ABCA4_000026" "g.94490567G>A" "" "{PMID:Turro 2020:32581362}" "" "ABCA4 c.4577C>T, p.Thr1526Met" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94025011G>A" "" "likely pathogenic" ""
"0000821108" "0" "70" "1" "94476951" "94476951" "subst" "0.000236097" "00000" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Turro 2020:32581362}" "" "ABCA4 c.5461-10T>C," "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94011395A>G" "" "likely pathogenic" ""
"0000821109" "0" "70" "1" "94496547" "94496547" "subst" "4.06345E-6" "00000" "ABCA4_000559" "g.94496547C>A" "" "{PMID:Turro 2020:32581362}" "" "ABCA4 c.4253+5G>T," "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94030991C>A" "" "likely pathogenic" ""
"0000821110" "0" "70" "1" "94496017" "94496017" "subst" "4.06075E-6" "00000" "ABCA4_000130" "g.94496017A>G" "" "{PMID:Turro 2020:32581362}" "" "ABCA4 c.4319T>C, p.Phe1440Ser" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94030461A>G" "" "likely pathogenic" ""
"0000821111" "0" "70" "1" "94496677" "94496677" "subst" "0" "00000" "ABCA4_001403" "g.94496677C>T" "" "{PMID:Turro 2020:32581362}" "" "ABCA4 c.4129-1G>A," "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94031121C>T" "" "likely pathogenic" ""
"0000821112" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "00000" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Turro 2020:32581362}" "" "ABCA4 c.2588G>C, p.Gly863Ala" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic" ""
"0000821113" "0" "70" "1" "94476951" "94476951" "subst" "0.000236097" "00000" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Turro 2020:32581362}" "" "ABCA4 c.5461-10T>C," "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94011395A>G" "" "likely pathogenic" ""
"0000821114" "0" "70" "1" "94528266" "94528266" "subst" "4.477E-5" "00000" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Turro 2020:32581362}" "" "ABCA4 c.1804C>T, p.Arg602Trp" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94062710G>A" "" "likely pathogenic" ""
"0000821115" "0" "90" "1" "94495009" "94495009" "del" "0" "00000" "ABCA4_000534" "g.94495009del" "" "{PMID:Turro 2020:32581362}" "" "ABCA4 c.4537delC, p.Gln1513ArgfsTer13" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94029453del" "" "pathogenic" ""
"0000821116" "0" "70" "1" "94476951" "94476951" "subst" "0.000236097" "00000" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Turro 2020:32581362}" "" "ABCA4 c.5461-10T>C," "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94011395A>G" "" "likely pathogenic" ""
"0000821117" "0" "70" "1" "94509018" "94509018" "subst" "8.12869E-6" "00000" "ABCA4_000659" "g.94509018C>T" "" "{PMID:Turro 2020:32581362}" "" "ABCA4 c.3064G>A, p.Glu1022Lys" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94043462C>T" "" "likely pathogenic" ""
"0000821118" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "00000" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Turro 2020:32581362}" "" "ABCA4 c.4139C>T, p.Pro1380Leu" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic" ""
"0000821119" "3" "70" "1" "94463399" "94463413" "del" "0" "00000" "ABCA4_000851" "g.94463399_94463413del" "" "{PMID:Turro 2020:32581362}" "" "ABCA4 c.6729+5_6729+19delGTTGGCCCTGGGGCA," "homozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.93997843_93997857del" "" "likely pathogenic" ""
"0000821120" "0" "90" "1" "94466426" "94466426" "subst" "1.62433E-5" "00000" "ABCA4_000124" "g.94466426G>A" "" "{PMID:Turro 2020:32581362}" "" "ABCA4 c.6445C>T, p.Arg2149Ter" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94000870G>A" "" "pathogenic" ""
"0000821121" "0" "70" "1" "94510248" "94510248" "subst" "0.000544123" "00000" "ABCA4_000107" "g.94510248C>G" "" "{PMID:Turro 2020:32581362}" "" "ABCA4 c.2971G>C, p.Gly991Arg" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94044692C>G" "" "likely pathogenic" ""
"0000821122" "0" "70" "1" "94544167" "94544167" "subst" "8.12269E-6" "00000" "ABCA4_000316" "g.94544167G>C" "" "{PMID:Turro 2020:32581362}" "" "ABCA4 c.1335C>G, p.Ser445Arg" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94078611G>C" "" "likely pathogenic" ""
"0000821123" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "00000" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Turro 2020:32581362}" "" "ABCA4 c.4139C>T, p.Pro1380Leu" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic" ""
"0000821124" "0" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "00000" "ABCA4_000997" "g.94495071C>T" "" "{PMID:Turro 2020:32581362}" "" "ABCA4 c.4469G>A, p.Cys1490Tyr" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94029515C>T" "" "likely pathogenic" ""
"0000821125" "0" "70" "1" "94476951" "94476951" "subst" "0.000236097" "00000" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Turro 2020:32581362}" "" "ABCA4 c.5461-10T>C," "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94011395A>G" "" "likely pathogenic" ""
"0000821126" "0" "70" "1" "94476951" "94476951" "subst" "0.000236097" "00000" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Turro 2020:32581362}" "" "ABCA4 c.5461-10T>C," "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94011395A>G" "" "likely pathogenic" ""
"0000821127" "0" "90" "1" "94486794" "94486794" "subst" "0" "00000" "ABCA4_000478" "g.94486794A>G" "" "{PMID:Turro 2020:32581362}" "" "ABCA4 c.5018+2T>C," "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94021238A>G" "" "pathogenic" ""
"0000821128" "0" "70" "1" "94495177" "94495177" "subst" "1.22342E-5" "00000" "ABCA4_000023" "g.94495177A>G" "" "{PMID:Turro 2020:32581362}" "" "ABCA4 c.4363T>C, p.Cys1455Arg" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94029621A>G" "" "likely pathogenic" ""
"0000821129" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Turro 2020:32581362}" "" "ABCA4 c.5882G>A, p.Gly1961Glu" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000821130" "0" "70" "1" "94526230" "94526230" "subst" "7.32136E-5" "00000" "ABCA4_000760" "g.94526230C>T" "" "{PMID:Turro 2020:32581362}" "" "ABCA4 c.2023G>A, p.Val675Ile" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94060674C>T" "" "likely pathogenic" ""
"0000821131" "0" "70" "1" "94495002" "94495002" "subst" "0" "00000" "ABCA4_000533" "g.94495002T>C" "" "{PMID:Turro 2020:32581362}" "" "ABCA4 c.4538A>G, p.Gln1513Arg" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94029446T>C" "" "likely pathogenic" ""
"0000821132" "0" "90" "1" "94528871" "94528871" "subst" "0" "00000" "ABCA4_001410" "g.94528871G>T" "" "{PMID:Turro 2020:32581362}" "" "ABCA4 c.1557C>A, p.Cys519Ter" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94063315G>T" "" "pathogenic" ""
"0000821133" "0" "70" "1" "94528251" "94528251" "subst" "2.84824E-5" "00000" "ABCA4_000281" "g.94528251C>T" "" "{PMID:Turro 2020:32581362}" "" "ABCA4 c.1819G>A, p.Gly607Arg" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94062695C>T" "" "likely pathogenic" ""
"0000821134" "0" "70" "1" "94508969" "94508969" "subst" "0.00168642" "00000" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Turro 2020:32581362}" "" "ABCA4 c.3113C>T, p.Ala1038Val" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic" ""
"0000821135" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Turro 2020:32581362}" "" "ABCA4 c.5882G>A, p.Gly1961Glu" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000821136" "3" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Turro 2020:32581362}" "" "ABCA4 c.5882G>A, p.Gly1961Glu" "homozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000821137" "0" "70" "1" "94574274" "94574274" "subst" "0" "00000" "ABCA4_002218" "g.94574274T>C" "" "{PMID:Turro 2020:32581362}" "" "ABCA4 c.303-2A>G," "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94108718T>C" "" "likely pathogenic" ""
"0000821138" "0" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "00000" "ABCA4_000997" "g.94495071C>T" "" "{PMID:Turro 2020:32581362}" "" "ABCA4 c.4469G>A, p.Cys1490Tyr" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94029515C>T" "" "likely pathogenic" ""
"0000821139" "0" "70" "1" "94528819" "94528819" "subst" "2.03128E-5" "00000" "ABCA4_000078" "g.94528819G>A" "" "{PMID:Turro 2020:32581362}" "" "ABCA4 c.1609C>T, p.Arg537Cys" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94063263G>A" "" "likely pathogenic" ""
"0000821140" "0" "90" "1" "94471056" "94471056" "subst" "2.84398E-5" "00000" "ABCA4_000050" "g.94471056G>A" "" "{PMID:Turro 2020:32581362}" "" "ABCA4 c.6088C>T, p.Arg2030Ter" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94005500G>A" "" "pathogenic" ""
"0000821141" "0" "70" "1" "94543268" "94543268" "subst" "0.000778106" "00000" "ABCA4_000306" "g.94543268C>T" "" "{PMID:Turro 2020:32581362}" "" "ABCA4 c.1532G>A, p.Arg511His" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94077712C>T" "" "likely pathogenic" ""
"0000821142" "3" "70" "1" "94543303" "94543303" "subst" "0" "00000" "ABCA4_001411" "g.94543303C>T" "" "{PMID:Turro 2020:32581362}" "" "ABCA4 c.1497G>A, p.Trp499Ter" "homozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94077747C>T" "" "likely pathogenic" ""
"0000821143" "3" "90" "1" "94463488" "94463488" "subst" "5.2803E-5" "00000" "ABCA4_000802" "g.94463488G>A" "" "{PMID:Turro 2020:32581362}" "" "ABCA4 c.6658C>T, p.Gln2220Ter" "homozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.93997932G>A" "" "pathogenic" ""
"0000821144" "3" "90" "1" "94473278" "94473278" "del" "3.25908E-5" "00000" "ABCA4_000392" "g.94473278del" "" "{PMID:Turro 2020:32581362}" "" "ABCA4 c.5917delG, p.Val1973Ter" "homozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94007722del" "" "pathogenic" ""
"0000821145" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "00000" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Turro 2020:32581362}" "" "ABCA4 c.2588G>C, p.Gly863Ala" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic" ""
"0000821473" "0" "70" "1" "94476951" "94476951" "subst" "0.000236097" "00000" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Turro 2020:32581362}" "" "ABCA4 c.5461-10T>C," "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94011395A>G" "" "likely pathogenic" ""
"0000821474" "0" "70" "1" "94564406" "94564406" "subst" "0" "00000" "ABCA4_001413" "g.94564406G>A" "" "{PMID:Turro 2020:32581362}" "" "ABCA4 c.712C>T, p.Gln238Ter" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94098850G>A" "" "likely pathogenic" ""
"0000821475" "0" "70" "1" "94467470" "94467470" "subst" "0" "00000" "ABCA4_001397" "g.94467470T>C" "" "{PMID:Turro 2020:32581362}" "" "ABCA4 c.6226A>G, p.Lys2076Glu" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94001914T>C" "" "likely pathogenic" ""
"0000821476" "0" "70" "1" "94476951" "94476951" "subst" "0.000236097" "00000" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Turro 2020:32581362}" "" "ABCA4 c.5461-10T>C," "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94011395A>G" "" "likely pathogenic" ""
"0000821477" "0" "70" "1" "94471046" "94471046" "subst" "0" "00000" "ABCA4_000793" "g.94471046A>C" "" "{PMID:Turro 2020:32581362}" "" "ABCA4 c.6098T>G, p.Leu2033Arg" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94005490A>C" "" "likely pathogenic" ""
"0000821478" "0" "90" "1" "94471056" "94471056" "subst" "2.84398E-5" "00000" "ABCA4_000050" "g.94471056G>A" "" "{PMID:Turro 2020:32581362}" "" "ABCA4 c.6088C>T, p.Arg2030Ter" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94005500G>A" "" "pathogenic" ""
"0000821479" "0" "70" "1" "94466624" "94466624" "subst" "0.0014345" "00000" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Turro 2020:32581362}" "" "ABCA4 c.6320G>A, p.Arg2107His" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94001068C>T" "" "likely pathogenic" ""
"0000821480" "0" "70" "1" "94506923" "94506923" "subst" "2.43657E-5" "00000" "ABCA4_000012" "g.94506923C>T" "" "{PMID:Turro 2020:32581362}" "" "ABCA4 c.3364G>A, p.Glu1122Lys" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94041367C>T" "" "likely pathogenic" ""
"0000821481" "0" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "00000" "ABCA4_000997" "g.94495071C>T" "" "{PMID:Turro 2020:32581362}" "" "ABCA4 c.4469G>A, p.Cys1490Tyr" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94029515C>T" "" "likely pathogenic" ""
"0000821482" "0" "70" "1" "94467548" "94467548" "subst" "0.00295661" "00000" "ABCA4_000788" "g.94467548C>G" "" "{PMID:Turro 2020:32581362}" "" "ABCA4 c.6148G>C, p.Val2050Leu" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94001992C>G" "" "likely pathogenic" ""
"0000821483" "0" "70" "1" "94476951" "94476951" "subst" "0.000236097" "00000" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Turro 2020:32581362}" "" "ABCA4 c.5461-10T>C," "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94011395A>G" "" "likely pathogenic" ""
"0000821484" "0" "70" "1" "94486791" "94486791" "subst" "0" "00000" "ABCA4_001253" "g.94486791C>T" "" "{PMID:Turro 2020:32581362}" "" "ABCA4 c.5018+5G>A," "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94021235C>T" "" "likely pathogenic" ""
"0000821485" "0" "70" "1" "94495177" "94495177" "subst" "1.22342E-5" "00000" "ABCA4_000023" "g.94495177A>G" "" "{PMID:Turro 2020:32581362}" "" "ABCA4 c.4363T>C, p.Cys1455Arg" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94029621A>G" "" "likely pathogenic" ""
"0000821486" "0" "70" "1" "94476951" "94476951" "subst" "0.000236097" "00000" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Turro 2020:32581362}" "" "ABCA4 c.5461-10T>C," "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94011395A>G" "" "likely pathogenic" ""
"0000821487" "0" "70" "1" "94485246" "94485246" "subst" "0" "00000" "ABCA4_000474" "g.94485246G>C" "" "{PMID:Turro 2020:32581362}" "" "ABCA4 c.5088C>G, p.Ser1696Arg" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94019690G>C" "" "likely pathogenic" ""
"0000821488" "0" "70" "1" "94508969" "94508969" "subst" "0.00168642" "00000" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Turro 2020:32581362}" "" "ABCA4 c.3113C>T, p.Ala1038Val" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic" ""
"0000821489" "0" "70" "1" "94480244" "94480244" "subst" "4.06128E-6" "00000" "ABCA4_001399" "g.94480244C>T" "" "{PMID:Turro 2020:32581362}" "" "ABCA4 c.5315G>A, p.Trp1772Ter" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94014688C>T" "" "likely pathogenic" ""
"0000821490" "0" "70" "1" "94564350" "94564350" "subst" "9.34268E-5" "00000" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Turro 2020:32581362}" "" "ABCA4 c.768G>T," "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94098794C>A" "" "likely pathogenic" ""
"0000821491" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "00000" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Turro 2020:32581362}" "" "ABCA4 c.5714+5G>A," "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic" ""
"0000821492" "0" "70" "1" "94476951" "94476951" "subst" "0.000236097" "00000" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Turro 2020:32581362}" "" "ABCA4 c.5461-10T>C," "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94011395A>G" "" "likely pathogenic" ""
"0000821493" "0" "70" "1" "94476939" "94476939" "subst" "2.03371E-5" "00000" "ABCA4_001398" "g.94476939C>T" "" "{PMID:Turro 2020:32581362}" "" "ABCA4 c.5463G>A, c.5463G>A(p.%3D)" "heterozygous, probable splicing alteration" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94011383C>T" "" "likely pathogenic" ""
"0000821494" "0" "70" "1" "94466422" "94466422" "subst" "2.43651E-5" "00000" "ABCA4_000817" "g.94466422C>T" "" "{PMID:Turro 2020:32581362}" "" "ABCA4 c.6449G>A, p.Cys2150Tyr" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94000866C>T" "" "likely pathogenic" ""
"0000821495" "0" "70" "1" "94495021" "94495021" "subst" "0.000161713" "00000" "ABCA4_000538" "g.94495021C>T" "" "{PMID:Turro 2020:32581362}" "" "ABCA4 c.4519G>A, p.Gly1507Arg" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94029465C>T" "" "likely pathogenic" ""
"0000821496" "0" "70" "1" "94484001" "94484001" "subst" "0" "00000" "ABCA4_000016" "g.94484001C>T" "" "{PMID:Turro 2020:32581362}" "" "ABCA4 c.5196+1137G>A," "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94018445C>T" "" "likely pathogenic" ""
"0000821497" "0" "70" "1" "94476951" "94476951" "subst" "0.000236097" "00000" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Turro 2020:32581362}" "" "ABCA4 c.5461-10T>C," "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94011395A>G" "" "likely pathogenic" ""
"0000821498" "0" "70" "1" "94471046" "94471046" "subst" "0" "00000" "ABCA4_000794" "g.94471046A>G" "" "{PMID:Turro 2020:32581362}" "" "ABCA4 c.6098T>C, p.Leu2033Pro" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94005490A>G" "" "likely pathogenic" ""
"0000821499" "0" "70" "1" "94484001" "94484001" "subst" "0" "00000" "ABCA4_000016" "g.94484001C>T" "" "{PMID:Turro 2020:32581362}" "" "ABCA4 c.5196+1137G>A," "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94018445C>T" "" "likely pathogenic" ""
"0000821500" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Turro 2020:32581362}" "" "ABCA4 c.5882G>A, p.Gly1961Glu" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000821501" "0" "70" "1" "94402743" "94505684" "del" "0" "00000" "ABCA4_002761" "g.(?_94402743)_(94505684_94506764)del" "" "{PMID:Turro 2020:32581362}" "" "chr1:g.94402743_94505682del" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.(?_93937187)_(94040128_94041208)del" "" "likely pathogenic" ""
"0000821502" "0" "70" "1" "94484001" "94484001" "subst" "0" "00000" "ABCA4_000016" "g.94484001C>T" "" "{PMID:Turro 2020:32581362}" "" "ABCA4 c.5196+1137G>A," "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94018445C>T" "" "likely pathogenic" ""
"0000821503" "0" "70" "1" "94495009" "94495009" "dup" "0" "00000" "ABCA4_000087" "g.94495009dup" "" "{PMID:Turro 2020:32581362}" "" "ABCA4 c.4537dupC, p.Gln1513ProfsTer42" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94029453dup" "" "likely pathogenic" ""
"0000821504" "0" "90" "1" "94485173" "94485174" "del" "0" "00000" "ABCA4_000468" "g.94485173_94485174del" "" "{PMID:Turro 2020:32581362}" "" "ABCA4 c.5161_5162delAC, p.Thr1721HisfsTer65" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94019617_94019618del" "" "pathogenic" ""
"0000821505" "0" "70" "1" "94466602" "94466602" "subst" "1.62472E-5" "00000" "ABCA4_000035" "g.94466602C>T" "" "{PMID:Turro 2020:32581362}" "" "ABCA4 c.6342G>A," "heterozygous, probable splicing alteration" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94001046C>T" "" "likely pathogenic" ""
"0000821506" "0" "70" "1" "94476886" "94476886" "subst" "4.06227E-6" "00000" "ABCA4_000433" "g.94476886A>G" "" "{PMID:Turro 2020:32581362}" "" "ABCA4 c.5516T>C, p.Phe1839Ser" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94011330A>G" "" "likely pathogenic" ""
"0000821507" "0" "90" "1" "94466615" "94466615" "subst" "0" "00000" "ABCA4_000836" "g.94466615C>T" "" "{PMID:Turro 2020:32581362}" "" "ABCA4 c.6329G>A, p.Trp2110Ter" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94001059C>T" "" "pathogenic" ""
"0000821508" "0" "70" "1" "94512478" "94512478" "subst" "3.65871E-5" "00000" "ABCA4_000678" "g.94512478G>T" "" "{PMID:Turro 2020:32581362}" "" "ABCA4 c.2915C>A, p.Thr972Asn" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94046922G>T" "" "likely pathogenic" ""
"0000821509" "0" "70" "1" "94510253" "94510253" "subst" "0.000247694" "00000" "ABCA4_000108" "g.94510253A>G" "" "{PMID:Turro 2020:32581362}" "" "ABCA4 c.2966T>C, p.Val989Ala" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94044697A>G" "" "likely pathogenic" ""
"0000821510" "0" "70" "1" "94466422" "94466422" "subst" "2.43651E-5" "00000" "ABCA4_000817" "g.94466422C>T" "" "{PMID:Turro 2020:32581362}" "" "ABCA4 c.6449G>A, p.Cys2150Tyr" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94000866C>T" "" "likely pathogenic" ""
"0000821511" "0" "70" "1" "94463399" "94463413" "del" "0" "00000" "ABCA4_000851" "g.94463399_94463413del" "" "{PMID:Turro 2020:32581362}" "" "ABCA4 c.6729+5_6729+19delGTTGGCCCTGGGGCA," "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.93997843_93997857del" "" "likely pathogenic" ""
"0000821512" "3" "70" "1" "94564484" "94564484" "subst" "0.000110199" "00000" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Turro 2020:32581362}" "" "ABCA4 c.634C>T, p.Arg212Cys" "homozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94098928G>A" "" "likely pathogenic" ""
"0000821513" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Turro 2020:32581362}" "" "ABCA4 c.5882G>A, p.Gly1961Glu" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000821514" "0" "70" "1" "94486895" "94486895" "subst" "3.24923E-5" "00000" "ABCA4_000484" "g.94486895C>T" "" "{PMID:Turro 2020:32581362}" "" "ABCA4 c.4919G>A, p.Arg1640Gln" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94021339C>T" "" "likely pathogenic" ""
"0000821515" "0" "70" "1" "94466624" "94466624" "subst" "0.0014345" "00000" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Turro 2020:32581362}" "" "ABCA4 c.6320G>A, p.Arg2107His" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94001068C>T" "" "likely pathogenic" ""
"0000821516" "0" "70" "1" "94546207" "94546207" "subst" "0.000101665" "00000" "ABCA4_000083" "g.94546207G>C" "" "{PMID:Turro 2020:32581362}" "" "ABCA4 c.926C>G, p.Pro309Arg" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94080651G>C" "" "likely pathogenic" ""
"0000821517" "0" "70" "1" "94467467" "94467467" "subst" "4.06164E-6" "00000" "ABCA4_000780" "g.94467467G>A" "" "{PMID:Turro 2020:32581362}" "" "ABCA4 c.6229C>T, p.Arg2077Trp" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94001911G>A" "" "likely pathogenic" ""
"0000821518" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "00000" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Turro 2020:32581362}" "" "ABCA4 c.2588G>C, p.Gly863Ala" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic" ""
"0000821519" "0" "70" "1" "94564460" "94564460" "subst" "8.1355E-6" "00000" "ABCA4_000056" "g.94564460G>A" "" "{PMID:Turro 2020:32581362}" "" "ABCA4 c.658C>T, p.Arg220Cys" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94098904G>A" "" "likely pathogenic" ""
"0000822111" "0" "70" "1" "94544234" "94544234" "subst" "0.255245" "00000" "ABCA4_000322" "g.94544234T>C" "" "{PMID:Booij-2011:20801516}" "" "c.1268A>G" "" "Germline" "" "rs3112831" "0" "" "" "" "" "likely pathogenic" ""
"0000822112" "0" "70" "1" "94544233" "94544233" "subst" "0.0868298" "00000" "ABCA4_000980" "g.94544233G>A" "" "{PMID:Booij-2011:20801516}" "" "c.1269C>T" "" "Germline" "" "rs4147831" "0" "" "" "" "" "likely pathogenic" ""
"0000822113" "0" "70" "1" "94476388" "94476388" "subst" "0.215397" "00000" "ABCA4_000890" "g.94476388C>G" "" "{PMID:Booij-2011:20801516}" "" "c.5682G>C" "" "Germline" "" "rs1801574" "0" "" "" "" "" "likely pathogenic" ""
"0000822114" "0" "70" "1" "94474328" "94474328" "subst" "0.189409" "00000" "ABCA4_000886" "g.94474328T>C" "" "{PMID:Booij-2011:20801516}" "" "c.5814A>G" "" "Germline" "" "rs4147857" "0" "" "" "" "" "likely pathogenic" ""
"0000822115" "0" "70" "1" "94466659" "94466659" "subst" "0.155961" "00000" "ABCA4_000953" "g.94466659A>G" "" "{PMID:Booij-2011:20801516}" "" "c.6285T>C" "" "Germline" "" "rs1801555" "0" "" "" "" "" "likely pathogenic" ""
"0000822188" "1" "70" "1" "94508969" "94508969" "subst" "0.00168642" "00000" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Maggi_2021:33546218}" "" "c.[1622T>C;3113C>T]" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822189" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "00000" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Maggi_2021:33546218}" "" "c.[1622T>C;3113C>T]" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822190" "1" "70" "1" "94496666" "94496666" "subst" "0.000219568" "00000" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Maggi_2021:33546218}" "" "c.4139C>T" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822193" "0" "70" "1" "94480178" "94480178" "subst" "2.43692E-5" "00000" "ABCA4_000005" "g.94480178G>T" "" "{PMID:Maggi_2021:33546218}" "" "c.5381C>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822194" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "00000" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Maggi_2021:33546218}" "" "c.6079C>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822195" "0" "70" "1" "94480146" "94480146" "subst" "2.84273E-5" "00000" "ABCA4_000122" "g.94480146T>C" "" "{PMID:Maggi_2021:33546218}" "" "c.5413A>G" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822196" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Maggi_2021:33546218}" "" "c.5882G>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822198" "1" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Maggi_2021:33546218}" "" "c.[2588G>C;5603A>T]" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822199" "1" "70" "1" "94517254" "94517254" "subst" "0.00442654" "00000" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Maggi_2021:33546218}" "" "c.[2588G>C;5603A>T]" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822200" "1" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Maggi_2021:33546218}" "" "c.[5714+5G>A;5603A>T]" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822201" "1" "70" "1" "94476351" "94476351" "subst" "0.000296608" "00000" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Maggi_2021:33546218}" "" "c.[5714+5G>A;5603A>T]" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822202" "0" "70" "1" "94463488" "94463488" "subst" "5.2803E-5" "00000" "ABCA4_000802" "g.94463488G>A" "" "{PMID:Maggi_2021:33546218}" "" "c.6658C>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822203" "0" "70" "1" "94463488" "94463488" "subst" "5.2803E-5" "00000" "ABCA4_000802" "g.94463488G>A" "" "{PMID:Maggi_2021:33546218}" "" "c.6658C>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822204" "0" "70" "1" "94564549" "94564549" "subst" "0" "00000" "ABCA4_000199" "g.94564549T>A" "" "{PMID:Maggi_2021:33546218}" "" "c.571-2A>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822205" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Maggi_2021:33546218}" "" "c.5882G>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822206" "0" "70" "1" "94522248" "94522248" "subst" "0" "00000" "ABCA4_000741" "g.94522248C>T" "" "{PMID:Maggi_2021:33546218}" "" "c.2291G>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822207" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "00000" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Maggi_2021:33546218}" "" "c.5714+5G>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822208" "1" "70" "1" "94508969" "94508969" "subst" "0.00168642" "00000" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Maggi_2021:33546218}" "" "c.[1622T>C;3113C>T]" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822209" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "00000" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Maggi_2021:33546218}" "" "c.[1622T>C;3113C>T]" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822210" "1" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Maggi_2021:33546218}" "" "c.5882G>A" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822216" "1" "70" "1" "94476951" "94476951" "subst" "0.000236097" "00000" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Maggi_2021:33546218}" "" "c.[5461-10T>C;5603A>T]" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822217" "1" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Maggi_2021:33546218}" "" "c.[5461-10T>C;5603A>T]" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822218" "1" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Maggi_2021:33546218}" "" "c.5882G>A" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822221" "1" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Maggi_2021:33546218}" "" "c.[2588G>C;5603A>T]" "" "Germline" "?" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822222" "1" "70" "1" "94517254" "94517254" "subst" "0.00442654" "00000" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Maggi_2021:33546218}" "" "c.[2588G>C;5603A>T]" "" "Germline" "?" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822223" "1" "70" "1" "94476351" "94476351" "subst" "0.000296608" "00000" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Maggi_2021:33546218}" "" "c.5714+5G>A" "" "Germline" "?" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822228" "0" "70" "1" "94473253" "94473253" "subst" "0" "00000" "ABCA4_001636" "g.94473253G>C" "" "{PMID:Maggi_2021:33546218}" "" "c.5942C>G" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822229" "0" "70" "1" "94466613" "94466621" "delins" "0" "00000" "ABCA4_002299" "g.94466613_94466621delinsGCC" "" "{PMID:Maggi_2021:33546218}" "" "c.6323_6331delinsGGC" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822230" "0" "70" "1" "94508322" "94508322" "del" "0" "00000" "ABCA4_002308" "g.94508322del" "" "{PMID:Maggi_2021:33546218}" "" "c.3323del" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822231" "0" "70" "1" "94480182" "94480182" "subst" "0" "00000" "ABCA4_001452" "g.94480182C>T" "" "{PMID:Maggi_2021:33546218}" "" "c.5377G>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822232" "1" "70" "1" "94564350" "94564350" "subst" "9.34268E-5" "00000" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Maggi_2021:33546218}" "" "c.768G>T" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822233" "1" "70" "1" "94487436" "94487436" "subst" "2.03047E-5" "00000" "ABCA4_000498" "g.94487436A>G" "" "{PMID:Maggi_2021:33546218}" "" "c.4739T>C" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822236" "1" "70" "1" "94528818" "94528818" "subst" "0.00205975" "00000" "ABCA4_001239" "g.94528818C>T" "" "{PMID:Maggi_2021:33546218}" "" "c.[1610G>A;5603A>T]" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822237" "1" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Maggi_2021:33546218}" "" "c.[1610G>A;5603A>T]" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822238" "1" "70" "1" "94505684" "94505684" "subst" "1.73969E-5" "00000" "ABCA4_000102" "g.94505684C>T" "" "{PMID:Maggi_2021:33546218}" "" "c.3523-1G>A" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822239" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Maggi_2021:33546218}" "" "c.5882G>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822240" "0" "70" "1" "94471056" "94471056" "subst" "2.84398E-5" "00000" "ABCA4_000050" "g.94471056G>A" "" "{PMID:Maggi_2021:33546218}" "" "c.6088C>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822243" "0" "70" "1" "94522248" "94522248" "subst" "0" "00000" "ABCA4_000741" "g.94522248C>T" "" "{PMID:Maggi_2021:33546218}" "" "c.2291G>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822244" "0" "70" "1" "94480178" "94480178" "subst" "2.43692E-5" "00000" "ABCA4_000005" "g.94480178G>T" "" "{PMID:Maggi_2021:33546218}" "" "c.5381C>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822248" "0" "70" "1" "94586541" "94586541" "subst" "4.0624E-6" "00000" "ABCA4_000256" "g.94586541G>A" "" "{PMID:Maggi_2021:33546218}" "" "c.61C>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822249" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Maggi_2021:33546218}" "" "c.5882G>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822259" "1" "70" "1" "94586550" "94586550" "subst" "1.21864E-5" "00000" "ABCA4_000037" "g.94586550G>A" "" "{PMID:Maggi_2021:33546218}" "" "c.[52C>T;5603A>T]" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822260" "1" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Maggi_2021:33546218}" "" "c.[52C>T;5603A>T]" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822261" "1" "70" "1" "94586550" "94586550" "subst" "1.21864E-5" "00000" "ABCA4_000037" "g.94586550G>A" "" "{PMID:Maggi_2021:33546218}" "" "c.[52C>T;5603A>T]" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822262" "1" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Maggi_2021:33546218}" "" "c.[52C>T;5603A>T]" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822265" "0" "70" "1" "94528266" "94528266" "subst" "4.477E-5" "00000" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Maggi_2021:33546218}" "" "c.1804C>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822266" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Maggi_2021:33546218}" "" "c.5882G>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822269" "0" "70" "1" "94568627" "94568627" "subst" "0.000422314" "00000" "ABCA4_000207" "g.94568627C>T" "" "{PMID:Maggi_2021:33546218}" "" "c.514G>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822270" "0" "70" "1" "94564442" "94564442" "subst" "6.90894E-5" "00000" "ABCA4_002313" "g.94564442G>T" "" "{PMID:Maggi_2021:33546218}" "" "c.676C>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822271" "0" "70" "1" "94526296" "94526296" "subst" "1.64555E-5" "00000" "ABCA4_000768" "g.94526296G>A" "" "{PMID:Maggi_2021:33546218}" "" "c.1957C>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822272" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Maggi_2021:33546218}" "" "c.5882G>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822273" "0" "70" "1" "94486941" "94486941" "subst" "0" "00000" "ABCA4_001420" "g.94486941G>A" "" "{PMID:Maggi_2021:33546218}" "" "c.4873C>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822274" "0" "70" "1" "94486941" "94486941" "subst" "0" "00000" "ABCA4_001420" "g.94486941G>A" "" "{PMID:Maggi_2021:33546218}" "" "c.4873C>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822275" "1" "70" "1" "94528818" "94528818" "subst" "0.00205975" "00000" "ABCA4_001239" "g.94528818C>T" "" "{PMID:Maggi_2021:33546218}" "" "c.[1610G>A;5603A>T]" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822276" "1" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Maggi_2021:33546218}" "" "c.[1610G>A;5603A>T]" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822277" "1" "70" "1" "94476951" "94476951" "subst" "0.000236097" "00000" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Maggi_2021:33546218}" "" "c.[5461-10T>C;5603A>T]" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822278" "1" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Maggi_2021:33546218}" "" "c.[5461-10T>C;5603A>T]" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822279" "1" "70" "1" "94476951" "94476951" "subst" "0.000236097" "00000" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Maggi_2021:33546218}" "" "c.[5461-10T>C;5603A>T]" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822280" "1" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Maggi_2021:33546218}" "" "c.[5461-10T>C;5603A>T]" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822281" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Maggi_2021:33546218}" "" "c.5882G>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822282" "0" "70" "1" "94486941" "94486941" "subst" "0" "00000" "ABCA4_001420" "g.94486941G>A" "" "{PMID:Maggi_2021:33546218}" "" "c.4873C>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822283" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "00000" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Maggi_2021:33546218}" "" "c.5714+5G>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822284" "0" "70" "1" "94495078" "94495078" "subst" "8.37044E-6" "00000" "ABCA4_000042" "g.94495078A>G" "" "{PMID:Maggi_2021:33546218}" "" "c.4462T>C" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822285" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Maggi_2021:33546218}" "" "c.5882G>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822286" "0" "70" "1" "94510287" "94510287" "subst" "0" "00000" "ABCA4_001467" "g.94510287C>T" "" "{PMID:Maggi_2021:33546218}" "" "c.2932G>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822287" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Maggi_2021:33546218}" "" "c.5882G>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822288" "1" "70" "1" "94526265" "94526265" "subst" "0" "00000" "ABCA4_000143" "g.94526265C>T" "" "{PMID:Maggi_2021:33546218}" "" "c.1988G>A" "" "Germline" "?" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822289" "1" "70" "1" "94526092" "94526092" "subst" "0" "00000" "ABCA4_000749" "g.94526092C>A" "" "{PMID:Maggi_2021:33546218}" "" "c.2160+1G>T" "" "Germline" "?" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822290" "1" "70" "1" "94526296" "94526296" "subst" "1.64555E-5" "00000" "ABCA4_000768" "g.94526296G>A" "" "{PMID:Maggi_2021:33546218}" "" "c.1957C>T" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822291" "1" "70" "1" "94476379" "94476379" "subst" "0" "00000" "ABCA4_002303" "g.94476379C>A" "" "{PMID:Maggi_2021:33546218}" "" "c.5691G>T" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822299" "0" "70" "1" "94495983" "94495983" "subst" "8.12348E-6" "00000" "ABCA4_000547" "g.94495983C>T" "" "{PMID:Maggi_2021:33546218}" "" "c.4352+1G>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822300" "0" "70" "1" "94486895" "94486895" "subst" "3.24923E-5" "00000" "ABCA4_000484" "g.94486895C>T" "" "{PMID:Maggi_2021:33546218}" "" "c.4919G>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822302" "0" "70" "1" "94520853" "94520853" "subst" "8.14783E-6" "00000" "ABCA4_000729" "g.94520853C>T" "" "{PMID:Maggi_2021:33546218}" "" "c.2401G>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822303" "0" "70" "1" "94480178" "94480178" "subst" "2.43692E-5" "00000" "ABCA4_000005" "g.94480178G>T" "" "{PMID:Maggi_2021:33546218}" "" "c.5381C>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822304" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Maggi_2021:33546218}" "" "c.5882G>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822305" "0" "70" "1" "94471022" "94471022" "subst" "0" "00000" "ABCA4_000790" "g.94471022C>T" "" "{PMID:Maggi_2021:33546218}" "" "c.6122G>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822306" "1" "70" "1" "94526212" "94526212" "subst" "1.22012E-5" "00000" "ABCA4_000075" "g.94526212G>A" "" "{PMID:Maggi_2021:33546218}" "" "c.2041C>T" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822307" "1" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Maggi_2021:33546218}" "" "c.5882G>A" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822308" "1" "70" "1" "94480230" "94480230" "subst" "6.09177E-5" "00000" "ABCA4_001053" "g.94480230T>A" "" "{PMID:Maggi_2021:33546218}" "" "c.5329A>T" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822309" "1" "70" "1" "94476951" "94476951" "subst" "0.000236097" "00000" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Maggi_2021:33546218}" "" "c.[5461-10T>C;5603A>T]" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822310" "1" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Maggi_2021:33546218}" "" "c.[5461-10T>C;5603A>T]" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822311" "1" "70" "1" "94486856" "94486856" "subst" "0" "00000" "ABCA4_002305" "g.94486856C>T" "" "{PMID:Maggi_2021:33546218}" "" "c.4958G>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822312" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Maggi_2021:33546218}" "" "c.5882G>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822316" "0" "70" "1" "94508903" "94508903" "subst" "8.1318E-6" "00000" "ABCA4_002309" "g.94508903T>G" "" "{PMID:Maggi_2021:33546218}" "" "c.3179A>C" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822317" "0" "70" "1" "94508903" "94508903" "subst" "8.1318E-6" "00000" "ABCA4_002309" "g.94508903T>G" "" "{PMID:Maggi_2021:33546218}" "" "c.3179A>C" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822318" "1" "70" "1" "94578529" "94578529" "subst" "0" "00000" "ABCA4_000245" "g.94578529A>C" "" "{PMID:Maggi_2021:33546218}" "" "c.160T>G" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822319" "1" "70" "1" "94578529" "94578529" "subst" "0" "00000" "ABCA4_000245" "g.94578529A>C" "" "{PMID:Maggi_2021:33546218}" "" "c.160T>G" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822322" "1" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Maggi_2021:33546218}" "" "c.5882G>A" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822323" "1" "70" "1" "94467413" "94467413" "subst" "8.12612E-6" "00000" "ABCA4_000131" "g.94467413C>G" "" "{PMID:Maggi_2021:33546218}" "" "c.6282+1G>C" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822324" "0" "70" "1" "94577046" "94577049" "dup" "0" "00000" "ABCA4_000227" "g.94577046_94577049dup" "" "{PMID:Maggi_2021:33546218}" "" "c.247_250dup" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822325" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Maggi_2021:33546218}" "" "c.5882G>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822326" "0" "70" "1" "94528686" "94528686" "subst" "0" "00000" "ABCA4_002310" "g.94528686G>T" "" "{PMID:Maggi_2021:33546218}" "" "c.1742C>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822327" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Maggi_2021:33546218}" "" "c.5882G>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822329" "0" "70" "1" "94490535" "94490535" "del" "0" "00000" "ABCA4_002306" "g.94490535del" "" "{PMID:Maggi_2021:33546218}" "" "c.4609del" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822330" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Maggi_2021:33546218}" "" "c.5882G>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822332" "1" "70" "1" "94495157" "94495157" "subst" "4.06752E-6" "00000" "ABCA4_001815" "g.94495157C>G" "" "{PMID:Maggi_2021:33546218}" "" "c.4383G>C" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822333" "1" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Maggi_2021:33546218}" "" "c.5882G>A" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822334" "1" "70" "1" "94508323" "94508323" "subst" "0.000125953" "00000" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Maggi_2021:33546218}" "" "c.[3322C>T;6320G>A]" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822335" "1" "70" "1" "94466624" "94466624" "subst" "0.0014345" "00000" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Maggi_2021:33546218}" "" "c.[3322C>T;6320G>A]" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822336" "1" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Maggi_2021:33546218}" "" "c.5882G>A" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822338" "1" "70" "1" "94564390" "94564391" "dup" "0" "00000" "ABCA4_002312" "g.94564390_94564391dup" "" "{PMID:Maggi_2021:33546218}" "" "c.727_728dup" "" "Germline" "?" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822339" "1" "70" "1" "94564383" "94564383" "subst" "0" "00000" "ABCA4_000371" "g.94564383A>C" "" "{PMID:Maggi_2021:33546218}" "" "c.735T>G" "" "Germline" "?" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822340" "1" "70" "1" "94480146" "94480146" "subst" "2.84273E-5" "00000" "ABCA4_000122" "g.94480146T>C" "" "{PMID:Maggi_2021:33546218}" "" "c.5413A>G" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822341" "1" "70" "1" "94466443" "94466443" "subst" "0" "00000" "ABCA4_002298" "g.94466443A>T" "" "{PMID:Maggi_2021:33546218}" "" "c.6428T>A" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822344" "1" "70" "1" "94476947" "94476947" "subst" "0" "00000" "ABCA4_002304" "g.94476947A>G" "" "{PMID:Maggi_2021:33546218}" "" "c.5461-6T>C" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822345" "1" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Maggi_2021:33546218}" "" "c.5882G>A" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822350" "0" "70" "1" "94486794" "94486794" "subst" "0" "00000" "ABCA4_000478" "g.94486794A>G" "" "{PMID:Maggi_2021:33546218}" "" "c.5018+2T>C" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822351" "0" "70" "1" "94486794" "94486794" "subst" "0" "00000" "ABCA4_000478" "g.94486794A>G" "" "{PMID:Maggi_2021:33546218}" "" "c.5018+2T>C" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822352" "1" "70" "1" "94568687" "94568687" "subst" "1.62641E-5" "00000" "ABCA4_000024" "g.94568687G>A" "" "{PMID:Maggi_2021:33546218}" "" "c.454C>T" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822353" "1" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Maggi_2021:33546218}" "" "c.[2588G>C;5603A>T]" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822354" "1" "70" "1" "94517254" "94517254" "subst" "0.00442654" "00000" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Maggi_2021:33546218}" "" "c.[2588G>C;5603A>T]" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822357" "0" "70" "1" "94526212" "94526212" "subst" "1.22012E-5" "00000" "ABCA4_000075" "g.94526212G>A" "" "{PMID:Maggi_2021:33546218}" "" "c.2041C>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822358" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Maggi_2021:33546218}" "" "c.5603A>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822363" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "00000" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Maggi_2021:33546218}" "" "c.5714+5G>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822364" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Maggi_2021:33546218}" "" "c.5882G>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822365" "0" "70" "1" "94528224" "94528224" "subst" "0" "00000" "ABCA4_000275" "g.94528224C>T" "" "{PMID:Maggi_2021:33546218}" "" "c.1846G>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822366" "0" "70" "1" "94496008" "94496008" "subst" "2.03056E-5" "00000" "ABCA4_000148" "g.94496008C>T" "" "{PMID:Maggi_2021:33546218}" "" "c.4328G>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822367" "0" "70" "1" "94586601" "94586601" "subst" "8.12156E-6" "00000" "ABCA4_000264" "g.94586601T>C" "" "{PMID:Maggi_2021:33546218}" "" "c.1A>G" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822368" "1" "70" "1" "94508969" "94508969" "subst" "0.00168642" "00000" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Maggi_2021:33546218}" "" "c.[1622T>C;3113C>T]" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822369" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "00000" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Maggi_2021:33546218}" "" "c.[1622T>C;3113C>T]" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822374" "1" "70" "1" "94577112" "94577112" "subst" "4.06164E-6" "00000" "ABCA4_000051" "g.94577112G>A" "" "{PMID:Maggi_2021:33546218}" "" "c.184C>T" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822375" "1" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Maggi_2021:33546218}" "" "c.5882G>A" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822383" "1" "70" "1" "94476951" "94476951" "subst" "0.000236097" "00000" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Maggi_2021:33546218}" "" "c.[5461-10T>C;5603A>T]" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822384" "1" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Maggi_2021:33546218}" "" "c.[5461-10T>C;5603A>T]" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822385" "1" "70" "1" "94476351" "94476351" "subst" "0.000296608" "00000" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Maggi_2021:33546218}" "" "c.5714+5G>A" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822388" "0" "70" "1" "94508434" "94508435" "dup" "0" "00000" "ABCA4_000998" "g.94508434_94508435dup" "" "{PMID:Maggi_2021:33546218}" "" "c.3210_3211dup" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822389" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Maggi_2021:33546218}" "" "c.5603A>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822391" "0" "70" "1" "94578529" "94578529" "subst" "0" "00000" "ABCA4_000245" "g.94578529A>C" "" "{PMID:Maggi_2021:33546218}" "" "c.160T>G" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822392" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Maggi_2021:33546218}" "" "c.5882G>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822394" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "00000" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Maggi_2021:33546218}" "" "c.4139C>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822395" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "00000" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Maggi_2021:33546218}" "" "c.5714+5G>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822399" "1" "70" "1" "94461750" "94461750" "subst" "0" "00000" "ABCA4_002297" "g.94461750A>T" "" "{PMID:Maggi_2021:33546218}" "" "c.6731T>A" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822400" "1" "70" "1" "94461750" "94461750" "subst" "0" "00000" "ABCA4_002297" "g.94461750A>T" "" "{PMID:Maggi_2021:33546218}" "" "c.6731T>A" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822401" "0" "70" "1" "94520853" "94520853" "subst" "8.14783E-6" "00000" "ABCA4_000729" "g.94520853C>T" "" "{PMID:Maggi_2021:33546218}" "" "c.2401G>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822402" "0" "70" "1" "94486794" "94486794" "subst" "0" "00000" "ABCA4_000478" "g.94486794A>G" "" "{PMID:Maggi_2021:33546218}" "" "c.5018+2T>C" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822405" "0" "70" "1" "94574147" "94574147" "del" "0" "00000" "ABCA4_001323" "g.94574147del" "" "{PMID:Maggi_2021:33546218}" "" "c.428del" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822406" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Maggi_2021:33546218}" "" "c.5882G>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822407" "0" "70" "1" "94507699" "94511700" "del" "0" "00000" "ABCA4_002307" "g.94507699_94511700del" "" "{PMID:Maggi_2021:33546218}" "" "c.(2918+765_2918+775)_(3328+618_3328+662)del" "" "Germline" "" "" "0" "" "" "g.94042143_94046144del" "" "likely pathogenic" ""
"0000822408" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Maggi_2021:33546218}" "" "c.5603A>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822413" "1" "70" "1" "94508969" "94508969" "subst" "0.00168642" "00000" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Maggi_2021:33546218}" "" "c.[1622T>C;3113C>T]" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822414" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "00000" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Maggi_2021:33546218}" "" "c.[1622T>C;3113C>T]" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822415" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Maggi_2021:33546218}" "" "c.5882G>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822416" "1" "70" "1" "94485136" "94485136" "subst" "0" "00000" "ABCA4_000189" "g.94485136A>G" "" "{PMID:Maggi_2021:33546218}" "" "c.5196+2T>C" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822417" "1" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Maggi_2021:33546218}" "" "c.5882G>A" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822418" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Maggi_2021:33546218}" "" "c.5882G>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822419" "0" "70" "1" "94467457" "94467458" "del" "0" "00000" "ABCA4_000778" "g.94467457_94467458del" "" "{PMID:Maggi_2021:33546218}" "" "c.6238_6239del" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822423" "0" "70" "1" "94526247" "94526248" "del" "0" "00000" "ABCA4_000761" "g.94526247_94526248del" "" "{PMID:Maggi_2021:33546218}" "" "c.2005_2006del" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822424" "0" "70" "1" "94467548" "94467548" "subst" "0.00295661" "00000" "ABCA4_000788" "g.94467548C>G" "" "{PMID:Maggi_2021:33546218}" "" "c.6148G>C" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822425" "1" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Maggi_2021:33546218}" "" "c.[2588G>C;5603A>T]" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822426" "1" "70" "1" "94517254" "94517254" "subst" "0.00442654" "00000" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Maggi_2021:33546218}" "" "c.[2588G>C;5603A>T]" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822427" "0" "70" "1" "94474379" "94474380" "del" "0" "00000" "ABCA4_002301" "g.94474379_94474380del" "" "{PMID:Maggi_2021:33546218}" "" "c.5762_5763del" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822431" "0" "70" "1" "94507699" "94511700" "del" "0" "00000" "ABCA4_002307" "g.94507699_94511700del" "" "{PMID:Maggi_2021:33546218}" "" "c.(2918+765_2918+775)_(3328+618_3328+662)del" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822432" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Maggi_2021:33546218}" "" "c.5603A>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822433" "0" "70" "1" "94486856" "94486856" "subst" "0" "00000" "ABCA4_002305" "g.94486856C>T" "" "{PMID:Maggi_2021:33546218}" "" "c.4958G>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822434" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Maggi_2021:33546218}" "" "c.5882G>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822435" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "00000" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Maggi_2021:33546218}" "" "c.5714+5G>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822436" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "00000" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Maggi_2021:33546218}" "" "c.5714+5G>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822438" "0" "70" "1" "94520853" "94520853" "subst" "8.14783E-6" "00000" "ABCA4_000729" "g.94520853C>T" "" "{PMID:Maggi_2021:33546218}" "" "c.2401G>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822439" "0" "70" "1" "94486794" "94486794" "subst" "0" "00000" "ABCA4_000478" "g.94486794A>G" "" "{PMID:Maggi_2021:33546218}" "" "c.5018+2T>C" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822445" "1" "70" "1" "94476951" "94476951" "subst" "0.000236097" "00000" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Maggi_2021:33546218}" "" "c.[5461-10T>C;5603A>T]" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822446" "1" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Maggi_2021:33546218}" "" "c.[5461-10T>C;5603A>T]" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822447" "1" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Maggi_2021:33546218}" "" "c.5882G>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822453" "0" "70" "1" "94577082" "94577082" "subst" "2.84315E-5" "00000" "ABCA4_000232" "g.94577082C>T" "" "{PMID:Maggi_2021:33546218}" "" "c.214G>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822454" "0" "70" "1" "94528251" "94528251" "subst" "2.84824E-5" "00000" "ABCA4_000281" "g.94528251C>T" "" "{PMID:Maggi_2021:33546218}" "" "c.1819G>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822458" "0" "70" "1" "94481296" "94481296" "subst" "4.07329E-6" "00000" "ABCA4_001532" "g.94481296C>T" "" "{PMID:Maggi_2021:33546218}" "" "c.5311G>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822459" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Maggi_2021:33546218}" "" "c.5882G>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822463" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Maggi_2021:33546218}" "" "c.5603A>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822464" "0" "70" "1" "94485162" "94485162" "subst" "0" "00000" "ABCA4_001419" "g.94485162C>T" "" "{PMID:Maggi_2021:33546218}" "" "c.5172G>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822465" "1" "70" "1" "94476366" "94476380" "del" "0" "00000" "ABCA4_002302" "g.94476366_94476380del" "" "{PMID:Maggi_2021:33546218}" "" "c.5690_5704del" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822466" "1" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Maggi_2021:33546218}" "" "c.5882G>A" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822467" "0" "70" "1" "94528167" "94528167" "subst" "0" "00000" "ABCA4_000268" "g.94528167G>A" "" "{PMID:Maggi_2021:33546218}" "" "c.1903C>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822468" "0" "70" "1" "94520853" "94520853" "subst" "8.14783E-6" "00000" "ABCA4_000729" "g.94520853C>T" "" "{PMID:Maggi_2021:33546218}" "" "c.2401G>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822474" "1" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Maggi_2021:33546218}" "" "c.[2588G>C;5603A>T]" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822475" "1" "70" "1" "94517254" "94517254" "subst" "0.00442654" "00000" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Maggi_2021:33546218}" "" "c.[2588G>C;5603A>T]" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822476" "0" "70" "1" "94486836" "94486836" "subst" "8.12255E-6" "00000" "ABCA4_001739" "g.94486836G>A" "" "{PMID:Maggi_2021:33546218}" "" "c.4978C>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822477" "1" "70" "1" "94476951" "94476951" "subst" "0.000236097" "00000" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Maggi_2021:33546218}" "" "c.[5461-10T>C;5603A>T]" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822478" "1" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Maggi_2021:33546218}" "" "c.[5461-10T>C;5603A>T]" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822479" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Maggi_2021:33546218}" "" "c.5882G>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822480" "1" "70" "1" "94481296" "94481296" "subst" "4.07329E-6" "00000" "ABCA4_001532" "g.94481296C>T" "" "{PMID:Maggi_2021:33546218}" "" "c.5311G>A" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822481" "1" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Maggi_2021:33546218}" "" "c.5603A>T" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822482" "0" "70" "1" "94492937" "94492937" "subst" "0" "00000" "ABCA4_000529" "g.94492937G>A" "" "{PMID:Maggi_2021:33546218}" "" "c.4539+2064C>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822483" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Maggi_2021:33546218}" "" "c.5882G>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822484" "1" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Maggi_2021:33546218}" "" "c.[2588G>C;5603A>T]" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822485" "1" "70" "1" "94517254" "94517254" "subst" "0.00442654" "00000" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Maggi_2021:33546218}" "" "c.[2588G>C;5603A>T]" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822486" "0" "70" "1" "94486794" "94486794" "subst" "0" "00000" "ABCA4_000478" "g.94486794A>G" "" "{PMID:Maggi_2021:33546218}" "" "c.5018+2T>C" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822487" "1" "70" "1" "94480243" "94480243" "subst" "4.06124E-6" "00000" "ABCA4_000448" "g.94480243C>T" "" "{PMID:Maggi_2021:33546218}" "" "c.5316G>A" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822488" "1" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Maggi_2021:33546218}" "" "c.5603A>T" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822493" "1" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Maggi_2021:33546218}" "" "c.5882G>A" "" "Germline" "?" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822494" "1" "70" "1" "94473271" "94473271" "subst" "0" "00000" "ABCA4_002300" "g.94473271C>A" "" "{PMID:Maggi_2021:33546218}" "" "c.5924G>T" "" "Germline" "?" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822496" "1" "70" "1" "94508969" "94508969" "subst" "0.00168642" "00000" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Maggi_2021:33546218}" "" "c.[1622T>C;3113C>T]" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822497" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "00000" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Maggi_2021:33546218}" "" "c.[1622T>C;3113C>T]" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822498" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Maggi_2021:33546218}" "" "c.5603A>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822499" "1" "70" "1" "94564484" "94564484" "subst" "0.000110199" "00000" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Maggi_2021:33546218}" "" "c.634C>T" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822500" "1" "70" "1" "94484082" "94484082" "subst" "0" "00000" "ABCA4_000028" "g.94484082T>C" "" "{PMID:Maggi_2021:33546218}" "" "c.5196+1056A>G" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822501" "1" "70" "1" "94508969" "94508969" "subst" "0.00168642" "00000" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Maggi_2021:33546218}" "" "c.[1622T>C;3113C>T]" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822502" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "00000" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Maggi_2021:33546218}" "" "c.[1622T>C;3113C>T]" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822503" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Maggi_2021:33546218}" "" "c.5603A>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822504" "0" "70" "1" "94510272" "94510272" "subst" "4.06062E-6" "00000" "ABCA4_000070" "g.94510272T>C" "" "{PMID:Maggi_2021:33546218}" "" "c.2947A>G" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822505" "0" "70" "1" "94496509" "94496509" "subst" "0.00475243" "00000" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Maggi_2021:33546218}" "" "c.4253+43G>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822506" "0" "70" "1" "94528806" "94528807" "del" "0" "00000" "ABCA4_002311" "g.94528806_94528807del" "" "{PMID:Maggi_2021:33546218}" "" "c.1621_1622del" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822507" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Maggi_2021:33546218}" "" "c.5603A>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822508" "0" "70" "1" "94564350" "94564350" "subst" "9.34268E-5" "00000" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Maggi_2021:33546218}" "" "c.768G>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822509" "0" "70" "1" "94492937" "94492937" "subst" "0" "00000" "ABCA4_000529" "g.94492937G>A" "" "{PMID:Maggi_2021:33546218}" "" "c.4539+2064C>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822725" "0" "70" "6" "94487404" "94487404" "subst" "0" "00000" "ABCA4_000497" "g.94487404C>T" "" "{PMID:Gliem 2020:32646556}" "" "PRPH2 c.4771G>A, p.Gly1591Arg" "error in annotation, the change ascribed to PRPH2 belongs to ABCA4, heterozygous" "Unknown" "?" "" "0" "" "" "g.94021848C>T" "" "likely pathogenic" ""
"0000823297" "11" "90" "1" "94511184" "94511184" "subst" "0" "04206" "ABCA4_002314" "g.94511184C>A" "" "{PMID:Tian 2022:35657619}, {PMID:Tian 2022:35973334}, {PMID:Tian 2024:37774808}" "" "" "" "Germline" "" "" "0" "" "" "g.94045628C>A" "" "pathogenic (recessive)" "ACMG"
"0000823298" "0" "90" "1" "94577492" "94578764" "del" "0" "04206" "ABCA4_002315" "g.94577492_94578764del" "" "{PMID:Tian 2022:35657619}" "" "" "" "Germline" "" "" "0" "" "" "g.94111936_94113208del" "" "pathogenic" "ACMG"
"0000824113" "21" "90" "1" "94506901" "94506901" "subst" "0.000308665" "00000" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Rodriguez Munoz 2021:33411470}" "" "ABCA4 c.3386G>T, p.(Arg1129Leu)" "" "Germline" "yes" "" "0" "" "" "g.94041345C>A" "" "pathogenic" "ACMG"
"0000824114" "21" "90" "1" "94506901" "94506901" "subst" "0.000308665" "00000" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Rodriguez Munoz 2021:33411470}" "" "ABCA4 c.3386G>T, p.(Arg1129Leu)" "" "Germline" "yes" "" "0" "" "" "g.94041345C>A" "" "pathogenic" "ACMG"
"0000824125" "11" "90" "1" "94474323" "94474323" "subst" "2.03034E-5" "00000" "ABCA4_000156" "g.94474323A>G" "" "{PMID:Rodriguez Munoz 2021:33411470}" "" "ABCA4 c.5819T>C, p.(Leu1940Pro)" "" "Germline" "yes" "" "0" "" "" "g.94008767A>G" "" "pathogenic" "ACMG"
"0000824128" "11" "90" "1" "94474323" "94474323" "subst" "2.03034E-5" "00000" "ABCA4_000156" "g.94474323A>G" "" "{PMID:Rodriguez Munoz 2021:33411470}" "" "ABCA4 c.5819T>C, p.(Leu1940Pro)" "" "Germline" "yes" "" "0" "" "" "g.94008767A>G" "" "pathogenic" "ACMG"
"0000824151" "21" "90" "1" "94506901" "94506901" "subst" "0.000308665" "00000" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Rodriguez Munoz 2021:33411470}" "" "ABCA4 c.3386G>T, p.(Arg1129Leu)" "" "Germline" "yes" "" "0" "" "" "g.94041345C>A" "" "pathogenic" "ACMG"
"0000824152" "21" "90" "1" "94506901" "94506901" "subst" "0.000308665" "00000" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Rodriguez Munoz 2021:33411470}" "" "ABCA4 c.3386G>T, p.(Arg1129Leu)" "" "Germline" "yes" "" "0" "" "" "g.94041345C>A" "" "pathogenic" "ACMG"
"0000824163" "11" "90" "1" "94474323" "94474323" "subst" "2.03034E-5" "00000" "ABCA4_000156" "g.94474323A>G" "" "{PMID:Rodriguez Munoz 2021:33411470}" "" "ABCA4 c.5819T>C, p.(Leu1940Pro)" "" "Germline" "yes" "" "0" "" "" "g.94008767A>G" "" "pathogenic" "ACMG"
"0000824166" "11" "90" "1" "94474323" "94474323" "subst" "2.03034E-5" "00000" "ABCA4_000156" "g.94474323A>G" "" "{PMID:Rodriguez Munoz 2021:33411470}" "" "ABCA4 c.5819T>C, p.(Leu1940Pro)" "" "Germline" "yes" "" "0" "" "" "g.94008767A>G" "" "pathogenic" "ACMG"
"0000824530" "11" "90" "1" "94517204" "94517205" "del" "0" "04206" "ABCA4_002316" "g.94517204_94517205del" "" "{PMID:Tian 2022:35657619}, {PMID:Tian 2024:37774808}" "" "2637_2638delTT" "" "Germline" "" "" "0" "" "" "g.94051648_94051649del" "" "pathogenic" "ACMG"
"0000824531" "20" "90" "1" "94529689" "94529689" "subst" "0" "04206" "ABCA4_002317" "g.94529689A>C" "" "{PMID:Tian 2022:35657619}, {PMID:Tian 2024:37774808}" "" "" "" "Germline" "" "" "0" "" "" "g.94064133A>C" "" "pathogenic" "ACMG"
"0000824532" "0" "90" "1" "94578589" "94578594" "del" "0" "04206" "ABCA4_000249" "g.94578589_94578594del" "" "{PMID:Tian 2022:35657619}, {PMID:Tian 2024:37774808}" "" "101_106delCTTTAT" "" "Germline" "" "" "0" "" "" "g.94113033_94113038del" "" "pathogenic (recessive)" "ACMG"
"0000824533" "20" "90" "1" "94510469" "94510469" "subst" "0" "04206" "ABCA4_002324" "g.94510469A>C" "" "{PMID:Tian 2022:35657619}, {PMID:Tian 2024:37774808}" "" "" "" "Germline" "" "" "0" "" "" "g.94044913A>C" "" "pathogenic (recessive)" "ACMG"
"0000824534" "21" "90" "1" "94544895" "94544895" "subst" "1.62455E-5" "04206" "ABCA4_000329" "g.94544895G>A" "" "{PMID:Tian 2022:35657619}, {PMID:Tian 2022:35973334}, {PMID:Tian 2024:37774808}" "" "" "" "Germline" "" "" "0" "" "" "g.94079339G>A" "" "pathogenic (maternal)" "ACMG"
"0000824535" "11" "90" "1" "94506867" "94506867" "subst" "0" "04206" "ABCA4_001296" "g.94506867G>C" "" "{PMID:Tian 2022:35657619}, {PMID:Tian 2024:37774808}" "" "" "" "Germline" "" "" "0" "" "" "g.94041311G>C" "" "pathogenic (recessive)" "ACMG"
"0000824536" "21" "90" "1" "94511184" "94511184" "subst" "0" "04206" "ABCA4_002314" "g.94511184C>A" "" "{PMID:Tian 2022:35657619}, {PMID:Tian 2024:37774808}" "" "" "" "Germline" "" "" "0" "" "" "g.94045628C>A" "" "pathogenic (recessive)" "ACMG"
"0000824537" "2" "70" "1" "94476467" "94476467" "subst" "0.0424562" "04206" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Tian 2022:35657619}, {PMID:Tian 2024:37774808}" "" "[5603A>T;5836-2A>G]" "" "Germline" "yes" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" "ACMG"
"0000824538" "1" "90" "1" "94493901" "94493901" "subst" "0" "04206" "ABCA4_001288" "g.94493901T>C" "" "{PMID:Tian 2022:35657619}, {PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94028345T>C" "" "pathogenic (recessive)" "ACMG"
"0000824539" "21" "90" "1" "94578589" "94578594" "del" "0" "04206" "ABCA4_000249" "g.94578589_94578594del" "" "{PMID:Tian 2022:35657619}, {PMID:Tian 2024:37774808}" "" "101_106delCTTTAT" "" "Germline" "" "" "0" "" "" "g.94113033_94113038del" "" "pathogenic (recessive)" "ACMG"
"0000824540" "11" "90" "1" "94493901" "94493901" "subst" "0" "04206" "ABCA4_001288" "g.94493901T>C" "" "{PMID:Tian 2022:35657619}, {PMID:Tian 2024:37774808}" "" "" "" "Germline" "" "" "0" "" "" "g.94028345T>C" "" "pathogenic (recessive)" "ACMG"
"0000824541" "21" "90" "1" "94520830" "94520830" "subst" "0" "04206" "ABCA4_000727" "g.94520830G>C" "" "{PMID:Tian 2022:35657619}, {PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94055274G>C" "" "pathogenic (recessive)" "ACMG"
"0000824542" "11" "90" "1" "94493901" "94493901" "subst" "0" "04206" "ABCA4_001288" "g.94493901T>C" "" "{PMID:Tian 2022:35657619}, {PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94028345T>C" "" "pathogenic (recessive)" "ACMG"
"0000824543" "2" "90" "1" "94520830" "94520830" "subst" "0" "04206" "ABCA4_000727" "g.94520830G>C" "" "{PMID:Tian 2022:35657619}, {PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94055274G>C" "" "pathogenic (recessive)" "ACMG"
"0000824544" "1" "90" "1" "94493901" "94493901" "subst" "0" "04206" "ABCA4_001288" "g.94493901T>C" "" "{PMID:Tian 2022:35657619}, {PMID:Tian 2024:37774808}" "" "" "" "Germline" "" "" "0" "" "" "g.94028345T>C" "" "pathogenic (recessive)" "ACMG"
"0000824545" "10" "90" "1" "94509017" "94509017" "subst" "0" "04206" "ABCA4_000658" "g.94509017T>C" "" "{PMID:Tian 2022:35657619}, {PMID:Tian 2024:37774808}" "" "" "" "Germline" "" "" "0" "" "" "g.94043461T>C" "" "pathogenic (recessive)" "ACMG"
"0000824546" "21" "90" "1" "94493901" "94493901" "subst" "0" "04206" "ABCA4_001288" "g.94493901T>C" "" "{PMID:Tian 2022:35657619}, {PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94028345T>C" "" "pathogenic (recessive)" "ACMG"
"0000824547" "0" "90" "1" "94574256" "94574256" "subst" "2.8425E-5" "04206" "ABCA4_000040" "g.94574256G>A" "" "{PMID:Tian 2022:35657619}, {PMID:Tian 2024:37774808}" "" "" "" "Germline" "" "" "0" "" "" "g.94108700G>A" "" "pathogenic (recessive)" "ACMG"
"0000824548" "11" "90" "1" "94493901" "94493901" "subst" "0" "04206" "ABCA4_001288" "g.94493901T>C" "" "{PMID:Tian 2022:35657619}, {PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94028345T>C" "" "pathogenic (recessive)" "ACMG"
"0000824553" "11" "90" "1" "94466627" "94466627" "subst" "4.06408E-6" "04206" "ABCA4_000867" "g.94466627C>T" "" "{PMID:Tian 2022:35657619}, {PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94001071C>T" "" "pathogenic (recessive)" "ACMG"
"0000824554" "21" "90" "1" "94493901" "94493901" "subst" "0" "04206" "ABCA4_001288" "g.94493901T>C" "" "{PMID:Tian 2022:35657619}, {PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94028345T>C" "" "pathogenic (recessive)" "ACMG"
"0000824555" "0" "90" "1" "94526194" "94526194" "dup" "0" "04206" "ABCA4_001308" "g.94526194dup" "" "{PMID:Tian 2022:35657619}, {PMID:Tian 2024:37774808}" "" "2063dupA" "" "Germline" "yes" "" "0" "" "" "g.94060638dup" "" "pathogenic (recessive)" "ACMG"
"0000824556" "11" "90" "1" "94478262" "94478262" "subst" "0" "04206" "ABCA4_002322" "g.94478262T>C" "" "{PMID:Tian 2022:35657619}, {PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94012706T>C" "" "pathogenic (recessive)" "ACMG"
"0000824559" "11" "90" "1" "94517254" "94517254" "subst" "0.00442654" "04206" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Tian 2022:35657619}, {PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" "ACMG"
"0000824562" "20" "90" "1" "94478262" "94478262" "subst" "0" "04206" "ABCA4_002322" "g.94478262T>C" "" "{PMID:Tian 2022:35657619}, {PMID:Tian 2024:37774808}" "" "" "" "Germline" "?" "" "0" "" "" "g.94012706T>C" "" "pathogenic (recessive)" "ACMG"
"0000824579" "0" "90" "1" "94506898" "94506898" "subst" "0" "04206" "ABCA4_001904" "g.94506898A>G" "" "{PMID:Tian 2022:35657619}, {PMID:Tian 2024:37774808}" "" "" "" "Germline" "" "" "0" "" "" "g.94041342A>G" "" "pathogenic (recessive)" "ACMG"
"0000824582" "0" "90" "1" "94478262" "94478262" "subst" "0" "04206" "ABCA4_002322" "g.94478262T>C" "" "{PMID:Tian 2022:35657619}, {PMID:Tian 2024:37774808}" "" "" "" "Germline" "" "" "0" "" "" "g.94012706T>C" "" "pathogenic (recessive)" "ACMG"
"0000824588" "11" "90" "1" "94480241" "94480241" "subst" "7.71705E-5" "04206" "ABCA4_000446" "g.94480241G>A" "" "{PMID:Tian 2022:35657619}, {PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94014685G>A" "" "pathogenic (recessive)" "ACMG"
"0000824589" "21" "90" "1" "94478262" "94478262" "subst" "0" "04206" "ABCA4_002322" "g.94478262T>C" "" "{PMID:Tian 2022:35657619}, {PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94012706T>C" "" "pathogenic (recessive)" "ACMG"
"0000824595" "20" "90" "1" "94474380" "94474380" "subst" "0" "04206" "ABCA4_001659" "g.94474380A>C" "" "{PMID:Tian 2022:35657619}, {PMID:Tian 2024:37774808}" "" "" "" "Germline" "" "" "0" "" "" "g.94008824A>C" "" "pathogenic (recessive)" "ACMG"
"0000824598" "11" "90" "1" "94478262" "94478262" "subst" "0" "04206" "ABCA4_002322" "g.94478262T>C" "" "{PMID:Tian 2022:35657619}, {PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94012706T>C" "" "pathogenic (recessive)" "ACMG"
"0000824600" "11" "90" "1" "94478262" "94478262" "subst" "0" "04206" "ABCA4_002322" "g.94478262T>C" "" "{PMID:Tian 2022:35657619}, {PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94012706T>C" "" "pathogenic (recessive)" "ACMG"
"0000824601" "21" "90" "1" "94466482" "94466482" "subst" "0" "04206" "ABCA4_000829" "g.94466482A>T" "" "{PMID:Tian 2022:35657619}, {PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94000926A>T" "" "pathogenic (recessive)" "ACMG"
"0000824604" "21" "90" "1" "94471025" "94471025" "subst" "0.00031698" "04206" "ABCA4_000096" "g.94471025C>T" "" "{PMID:Tian 2022:35657619}, {PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94005469C>T" "" "pathogenic (recessive)" "ACMG"
"0000824606" "10" "90" "1" "94577492" "94578764" "del" "0" "04206" "ABCA4_002315" "g.94577492_94578764del" "" "{PMID:Tian 2022:35657619}, {PMID:Tian 2024:37774808}" "" "" "" "Germline" "" "" "0" "" "" "g.94111936_94113208del" "" "pathogenic (recessive)" "ACMG"
"0000824608" "21" "90" "1" "94480232" "94480232" "subst" "0" "04206" "ABCA4_000444" "g.94480232G>A" "" "{PMID:Tian 2022:35657619}, {PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94014676G>A" "" "pathogenic (recessive)" "ACMG"
"0000824611" "11" "90" "1" "94471859" "94497093" "" "0" "04206" "ABCA4_002318" "g.94471859_94497093dup" "" "{PMID:Tian 2022:35657619}, {PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94006303_94031537dup" "" "pathogenic (recessive)" "ACMG"
"0000824613" "21" "90" "1" "94466616" "94466616" "subst" "0" "04206" "ABCA4_001583" "g.94466616A>G" "" "{PMID:Tian 2022:35657619}, {PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94001060A>G" "" "pathogenic (recessive)" "ACMG"
"0000824615" "11" "90" "1" "94470977" "94480332" "dup" "0" "04206" "ABCA4_002321" "g.94470977_94480332dup" "" "{PMID:Tian 2022:35657619}, {PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94005421_94014776dup" "" "pathogenic (recessive)" "ACMG"
"0000824633" "0" "30" "1" "94505659" "94505659" "subst" "0.000942724" "00000" "ABCA4_000921" "g.94505659C>A" "" "{PMID:Ma 2021:33691693}" "" "ABCA4 c.G3547T, p.G1183C" "marked as possibly causative, single heterozygous change in a recessive gene, heterozygous" "Unknown" "?" "" "0" "" "" "g.94040103C>A" "" "likely benign" "ACMG"
"0000824641" "0" "50" "1" "94528164" "94528164" "subst" "0" "00000" "ABCA4_001311" "g.94528164G>T" "" "{PMID:Ma 2021:33691693}" "" "ABCA4 c.C1906A, p.Q636K" "marked as causative, heterozygous" "Unknown" "?" "" "0" "" "" "g.94062608G>T" "" "VUS" "ACMG"
"0000824642" "0" "50" "1" "94487427" "94487427" "subst" "8.12176E-6" "00000" "ABCA4_001339" "g.94487427A>G" "" "{PMID:Ma 2021:33691693}" "" "ABCA4 c.T4748C, p.L1583P" "marked as causative, heterozygous" "Unknown" "?" "" "0" "" "" "g.94021871A>G" "" "VUS" "ACMG"
"0000824654" "0" "50" "1" "94487427" "94487427" "subst" "8.12176E-6" "00000" "ABCA4_001339" "g.94487427A>G" "" "{PMID:Ma 2021:33691693}" "" "ABCA4 c.T4748C, p.L1583P" "marked as causative, heterozygous" "Unknown" "?" "" "0" "" "" "g.94021871A>G" "" "VUS" "ACMG"
"0000824657" "0" "50" "1" "94526295" "94526295" "subst" "3.69731E-5" "00000" "ABCA4_000114" "g.94526295C>T" "" "{PMID:Ma 2021:33691693}" "" "ABCA4 c.G1958A, p.R653H" "marked as causative, heterozygous" "Unknown" "?" "" "0" "" "" "g.94060739C>T" "" "VUS" "ACMG"
"0000824674" "0" "50" "1" "94543278" "94543278" "subst" "0.000178952" "00000" "ABCA4_000004" "g.94543278G>A" "" "{PMID:Ma 2021:33691693}" "" "ABCA4 c.C1522T, p.R508C" "marked as causative, heterozygous" "Unknown" "?" "" "0" "" "" "g.94077722G>A" "" "VUS" "ACMG"
"0000824681" "0" "30" "1" "94471001" "94471001" "del" "0" "00000" "ABCA4_001337" "g.94471001del" "" "{PMID:Ma 2021:33691693}" "" "ABCA4 c.6146delA, p.K2049fs" "marked as causative, heterozygous" "Unknown" "?" "" "0" "" "" "g.94005445del" "" "likely benign" "ACMG"
"0000824682" "0" "50" "1" "94466658" "94466658" "subst" "8.14817E-6" "00000" "ABCA4_000132" "g.94466658C>T" "" "{PMID:Ma 2021:33691693}" "" "ABCA4 c.G6286A, p.E2096K" "marked as causative, heterozygous" "Unknown" "?" "" "0" "" "" "g.94001102C>T" "" "VUS" "ACMG"
"0000824686" "0" "50" "1" "94520714" "94520714" "subst" "0" "00000" "ABCA4_002325" "g.94520714G>A" "" "{PMID:Ma 2021:33691693}" "" "ABCA4 c.C2540T, p.A847V" "marked as causative, heterozygous" "Unknown" "?" "" "0" "" "" "g.94055158G>A" "" "VUS" "ACMG"
"0000824687" "0" "90" "1" "94528729" "94528729" "subst" "0.000255885" "00000" "ABCA4_000297" "g.94528729C>T" "" "{PMID:Ma 2021:33691693}" "" "ABCA4 c.G1699A, p.V567M" "marked as possibly causative, single heterozygous change in a recessive gene, heterozygous" "Unknown" "?" "" "0" "" "" "g.94063173C>T" "" "pathogenic" "ACMG"
"0000824688" "0" "50" "1" "94546253" "94546253" "subst" "0" "00000" "ABCA4_001351" "g.94546253G>A" "" "{PMID:Ma 2021:33691693}" "" "ABCA4 c.C880T, p.Q294X" "marked as possibly causative, single heterozygous change in a recessive gene, heterozygous" "Unknown" "?" "" "0" "" "" "g.94080697G>A" "" "VUS" "ACMG"
"0000824692" "0" "50" "1" "94528137" "94528137" "subst" "2.03363E-5" "00000" "ABCA4_000774" "g.94528137C>T" "" "{PMID:Ma 2021:33691693}" "" "ABCA4 c.G1933A, p.D645N" "marked as causative, heterozygous" "Unknown" "?" "" "0" "" "" "g.94062581C>T" "" "VUS" "ACMG"
"0000824693" "0" "90" "1" "94466426" "94466426" "subst" "1.62433E-5" "00000" "ABCA4_000124" "g.94466426G>A" "" "{PMID:Ma 2021:33691693}" "" "ABCA4 c.C6445T, p.R2149X" "marked as causative, heterozygous" "Unknown" "?" "" "0" "" "" "g.94000870G>A" "" "pathogenic" "ACMG"
"0000824702" "0" "90" "1" "94543278" "94543278" "subst" "0.000178952" "00000" "ABCA4_000004" "g.94543278G>A" "" "{PMID:Ma 2021:33691693}" "" "ABCA4 c.C1522T, p.R508C" "marked as causative, heterozygous" "Unknown" "?" "" "0" "" "" "g.94077722G>A" "" "pathogenic" "ACMG"
"0000824712" "0" "50" "1" "94528666" "94528666" "subst" "0" "00000" "ABCA4_000289" "g.94528666A>C" "" "{PMID:Ma 2021:33691693}" "" "ABCA4 c.1760+2T>G, ." "marked as causative, heterozygous" "Unknown" "?" "" "0" "" "" "g.94063110A>C" "" "VUS" "ACMG"
"0000824740" "0" "50" "1" "94528729" "94528729" "subst" "0.000255885" "00000" "ABCA4_000297" "g.94528729C>T" "" "{PMID:Ma 2021:33691693}" "" "ABCA4 c.G1699A, p.V567M" "marked as possibly causative, single heterozygous change in a recessive gene, heterozygous" "Unknown" "?" "" "0" "" "" "g.94063173C>T" "" "VUS" "ACMG"
"0000824750" "0" "70" "1" "94512499" "94512499" "subst" "0.000130029" "00000" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Ma 2021:33691693}" "" "ABCA4 c.A2894G, p.N965S" "marked as causative, heterozygous" "Unknown" "?" "" "0" "" "" "g.94046943T>C" "" "likely pathogenic" "ACMG"
"0000824751" "0" "50" "1" "94543278" "94543278" "subst" "0.000178952" "00000" "ABCA4_000004" "g.94543278G>A" "" "{PMID:Ma 2021:33691693}" "" "ABCA4 c.C1522T, p.R508C" "marked as causative, heterozygous" "Unknown" "?" "" "0" "" "" "g.94077722G>A" "" "VUS" "ACMG"
"0000824752" "0" "30" "1" "94466624" "94466624" "subst" "0.0014345" "00000" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Ma 2021:33691693}" "" "ABCA4 c.G6320A, p.R2107H" "marked as causative, heterozygous" "Unknown" "?" "" "0" "" "" "g.94001068C>T" "" "likely benign" "ACMG"
"0000824753" "0" "50" "1" "94546264" "94546264" "subst" "4.08077E-6" "00000" "ABCA4_001352" "g.94546264C>T" "" "{PMID:Ma 2021:33691693}" "" "ABCA4 c.G869A, p.R290Q" "marked as causative, heterozygous" "Unknown" "?" "" "0" "" "" "g.94080708C>T" "" "VUS" "ACMG"
"0000824759" "0" "30" "1" "94466624" "94466624" "subst" "0.0014345" "00000" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Ma 2021:33691693}" "" "ABCA4 c.G6320A, p.R2107H" "marked as causative, heterozygous" "Unknown" "?" "" "0" "" "" "g.94001068C>T" "" "likely benign" "ACMG"
"0000824760" "0" "50" "1" "94546264" "94546264" "subst" "4.08077E-6" "00000" "ABCA4_001352" "g.94546264C>T" "" "{PMID:Ma 2021:33691693}" "" "ABCA4 c.G869A, p.R290Q" "marked as causative, heterozygous" "Unknown" "?" "" "0" "" "" "g.94080708C>T" "" "VUS" "ACMG"
"0000824762" "0" "50" "1" "94487427" "94487427" "subst" "8.12176E-6" "00000" "ABCA4_001339" "g.94487427A>G" "" "{PMID:Ma 2021:33691693}" "" "ABCA4 c.T4748C, p.L1583P" "marked as causative, heterozygous" "Unknown" "?" "" "0" "" "" "g.94021871A>G" "" "VUS" "ACMG"
"0000824770" "0" "50" "1" "94528164" "94528164" "subst" "0" "00000" "ABCA4_001311" "g.94528164G>T" "" "{PMID:Ma 2021:33691693}" "" "ABCA4 c.C1906A, p.Q636K" "marked as causative, heterozygous" "Unknown" "?" "" "0" "" "" "g.94062608G>T" "" "VUS" "ACMG"
"0000824774" "0" "70" "1" "94506938" "94506938" "subst" "0" "00000" "ABCA4_001343" "g.94506938T>C" "" "{PMID:Ma 2021:33691693}" "" "ABCA4 c.A3349G, p.T1117A" "marked as causative, heterozygous" "Unknown" "?" "" "0" "" "" "g.94041382T>C" "" "likely pathogenic" "ACMG"
"0000824775" "0" "50" "1" "94506889" "94506889" "subst" "4.06091E-6" "00000" "ABCA4_000619" "g.94506889A>G" "" "{PMID:Ma 2021:33691693}" "" "ABCA4 c.T3398C, p.I1133T" "marked as causative, heterozygous" "Unknown" "?" "" "0" "" "" "g.94041333A>G" "" "VUS" "ACMG"
"0000824777" "0" "70" "1" "94471056" "94471056" "subst" "2.84398E-5" "00000" "ABCA4_000050" "g.94471056G>A" "" "{PMID:Ma 2021:33691693}" "" "ABCA4 c.C6088T, p.R2030X" "marked as causative, heterozygous" "Unknown" "?" "" "0" "" "" "g.94005500G>A" "" "likely pathogenic" "ACMG"
"0000824781" "0" "50" "1" "94506817" "94506817" "subst" "0" "00000" "ABCA4_001342" "g.94506817A>C" "" "{PMID:Ma 2021:33691693}" "" "ABCA4 c.T3470G, p.L1157X" "marked as causative, heterozygous" "Unknown" "?" "" "0" "" "" "g.94041261A>C" "" "VUS" "ACMG"
"0000824782" "0" "90" "1" "94528137" "94528137" "subst" "2.03363E-5" "00000" "ABCA4_000774" "g.94528137C>T" "" "{PMID:Ma 2021:33691693}" "" "ABCA4 c.G1933A, p.D645N" "marked as causative, heterozygous" "Unknown" "?" "" "0" "" "" "g.94062581C>T" "" "pathogenic" "ACMG"
"0000824786" "0" "50" "1" "94528164" "94528164" "subst" "0" "00000" "ABCA4_001311" "g.94528164G>T" "" "{PMID:Ma 2021:33691693}" "" "ABCA4 c.C1906A, p.Q636K" "marked as causative, heterozygous" "Unknown" "?" "" "0" "" "" "g.94062608G>T" "" "VUS" "ACMG"
"0000824791" "0" "90" "1" "94495157" "94495157" "subst" "0" "00000" "ABCA4_000545" "g.94495157C>T" "" "{PMID:Ma 2021:33691693}" "" "ABCA4 c.G4383A, p.W1461X" "marked as causative, heterozygous" "Unknown" "?" "" "0" "" "" "g.94029601C>T" "" "pathogenic" "ACMG"
"0000824892" "11" "90" "1" "94577117" "94577117" "subst" "1.62472E-5" "04206" "ABCA4_000237" "g.94577117G>A" "" "{PMID:Tian 2022:35657619}, {PMID:Tian 2024:37774808}" "" "" "no variant 2nd chromosome" "Germline" "yes" "" "0" "" "" "g.94111561G>A" "" "pathogenic (recessive)" "ACMG"
"0000824893" "20" "90" "1" "94564378" "94564378" "subst" "0" "04206" "ABCA4_000368" "g.94564378T>A" "" "{PMID:Tian 2022:35657619}, {PMID:Tian 2024:37774808}" "" "" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.94098822T>A" "" "pathogenic (recessive)" "ACMG"
"0000824894" "21" "90" "1" "94564355" "94564355" "subst" "0.000105612" "04206" "ABCA4_000365" "g.94564355G>A" "" "{PMID:Tian 2022:35657619}" "" "" "no variant 2nd chromosome" "Germline" "yes" "" "0" "" "" "g.94098799G>A" "" "pathogenic (recessive)" "ACMG"
"0000824895" "21" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "04206" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Tian 2022:35657619}, {PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94062710G>A" "" "pathogenic (recessive)" "ACMG"
"0000824896" "11" "90" "1" "94528262" "94528262" "subst" "0" "04206" "ABCA4_002082" "g.94528262T>C" "" "{PMID:Tian 2022:35657619}, {PMID:Tian 2024:37774808}" "" "" "no variant 2nd chromosome" "Germline" "yes" "" "0" "" "" "g.94062706T>C" "" "pathogenic (recessive)" "ACMG"
"0000824897" "11" "90" "1" "94471032" "94471032" "subst" "1.62553E-5" "04206" "ABCA4_000792" "g.94471032G>A" "" "{PMID:Tian 2022:35657619}, {PMID:Tian 2024:37774808}" "" "" "no variant 2nd chromosome" "Germline" "yes" "" "0" "" "" "g.94005476G>A" "" "pathogenic (recessive)" "ACMG"
"0000824898" "0" "90" "1" "94528162" "94528162" "subst" "0" "04206" "ABCA4_000266" "g.94528162C>A" "" "{PMID:Tian 2022:35657619}" "" "" "no variant 2nd chromosome" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94062606C>A" "" "pathogenic (recessive)" "ACMG"
"0000824899" "21" "90" "1" "94526230" "94526230" "subst" "7.32136E-5" "04206" "ABCA4_000760" "g.94526230C>T" "" "{PMID:Tian 2022:35657619}, {PMID:Tian 2024:37774808}" "" "" "" "Germline" "?" "" "0" "" "" "g.94060674C>T" "" "pathogenic (recessive)" "ACMG"
"0000824900" "11" "90" "1" "94509026" "94509026" "subst" "4.06497E-5" "04206" "ABCA4_000660" "g.94509026G>A" "" "{PMID:Tian 2022:35657619}, {PMID:Tian 2024:37774808}" "" "" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.94043470G>A" "" "pathogenic (recessive)" "ACMG"
"0000824901" "11" "90" "1" "94508999" "94508999" "subst" "0" "04206" "ABCA4_002323" "g.94508999G>T" "" "{PMID:Tian 2022:35657619}, {PMID:Tian 2024:37774808}" "" "" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.94043443G>T" "" "pathogenic (recessive)" "ACMG"
"0000824902" "11" "90" "1" "94467413" "94467413" "subst" "8.12612E-6" "04206" "ABCA4_000131" "g.94467413C>G" "" "{PMID:Tian 2022:35657619}, {PMID:Tian 2024:37774808}" "" "" "no variant 2nd chromosome" "Germline" "?" "" "0" "" "" "g.94001857C>G" "" "pathogenic (recessive)" "ACMG"
"0000824903" "11" "90" "1" "94466417" "94466417" "subst" "0" "04206" "ABCA4_002320" "g.94466417C>G" "" "{PMID:Tian 2022:35657619}, {PMID:Tian 2024:37774808}" "" "" "" "Germline" "" "" "0" "" "" "g.94000861C>G" "" "pathogenic (recessive)" "ACMG"
"0000824904" "0" "90" "1" "94463669" "94463669" "subst" "0" "04206" "ABCA4_002319" "g.94463669A>G" "" "{PMID:Tian 2022:35657619}" "" "" "no variant 2nd chromosome" "Germline/De novo (untested)" "?" "" "0" "" "" "g.93998113A>G" "" "pathogenic (recessive)" "ACMG"
"0000824905" "20" "90" "1" "94463583" "94463583" "subst" "8.12183E-6" "04206" "ABCA4_000806" "g.94463583A>G" "" "{PMID:Tian 2022:35657619}, {PMID:Tian 2024:37774808}" "" "" "no variant 2nd chromosome" "Germline" "?" "" "0" "" "" "g.93998027A>G" "" "pathogenic (recessive)" "ACMG"
"0000825487" "11" "50" "1" "94528266" "94528266" "subst" "4.477E-5" "00000" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Ng 2021:33846575}" "" "ABCA4 c.1804C>T, p.R602W" "no pathogenicity classification indicated" "Germline" "?" "" "0" "" "" "g.94062710G>A" "" "VUS" ""
"0000825488" "11" "50" "1" "94528266" "94528266" "subst" "4.477E-5" "00000" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Ng 2021:33846575}" "" "ABCA4 c.1804C>T, p.R602W" "no pathogenicity classification indicated" "Germline" "?" "" "0" "" "" "g.94062710G>A" "" "VUS" ""
"0000825489" "3" "50" "1" "94512499" "94512499" "subst" "0.000130029" "00000" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Ng 2021:33846575}" "" "ABCA4 c.2894A>G, p.N965S" "no pathogenicity classification indicated" "Germline" "?" "" "0" "" "" "g.94046943T>C" "" "VUS" ""
"0000825490" "3" "50" "1" "94512499" "94512499" "subst" "0.000130029" "00000" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Ng 2021:33846575}" "" "ABCA4 c.2894A>G, p.N965S" "no pathogenicity classification indicated" "Germline" "?" "" "0" "" "" "g.94046943T>C" "" "VUS" ""
"0000825493" "0" "50" "1" "94490534" "94490534" "subst" "0.000125895" "00000" "ABCA4_000520" "g.94490534G>A" "" "{PMID:Ng 2021:33846575}" "" "ABCA4 c.4610C>T, p.T1537M" "no pathogenicity classification indicated" "Unknown" "?" "" "0" "" "" "g.94024978G>A" "" "VUS" ""
"0000825494" "0" "50" "1" "94490589" "94490589" "del" "0" "00000" "ABCA4_000526" "g.94490589del" "" "{PMID:Ng 2021:33846575}" "" "ABCA4 c.4555delA, p.T1519Rfs*5" "no pathogenicity classification indicated" "Unknown" "?" "" "0" "" "" "g.94025033del" "" "VUS" ""
"0000825495" "0" "50" "1" "94502888" "94502888" "subst" "0.00310941" "00000" "ABCA4_000603" "g.94502888A>G" "" "{PMID:Ng 2021:33846575}" "" "ABCA4 c.3626T>C, p.M1209T" "no zygosity and pathogenicity classification indicated" "Unknown" "?" "" "0" "" "" "g.94037332A>G" "" "VUS" ""
"0000825496" "0" "50" "1" "94586549" "94586549" "subst" "0" "00000" "ABCA4_001329" "g.94586549C>G" "" "{PMID:Ng 2021:33846575}" "" "ABCA4 c.53G>C, p.R18P" "no zygosity and pathogenicity classification indicated" "Unknown" "?" "" "0" "" "" "g.94120993C>G" "" "VUS" ""
"0000825497" "0" "50" "1" "94471026" "94471026" "subst" "1.21925E-5" "00000" "ABCA4_000791" "g.94471026G>A" "" "{PMID:Ng 2021:33846575}" "" "ABCA4 c.6118C>T, p.R2040*" "no zygosity and pathogenicity classification indicated" "Unknown" "?" "" "0" "" "" "g.94005470G>A" "" "VUS" ""
"0000825498" "0" "50" "1" "94578618" "94578618" "subst" "0.000166918" "00000" "ABCA4_000252" "g.94578618C>T" "" "{PMID:Ng 2021:33846575}" "" "ABCA4 c.71G>A, p.R24H" "no zygosity and pathogenicity classification indicated" "Unknown" "?" "" "0" "" "" "g.94113062C>T" "" "VUS" ""
"0000825499" "0" "50" "1" "94528266" "94528266" "subst" "4.477E-5" "00000" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Ng 2021:33846575}" "" "ABCA4 c.1804C>T, p.R602W" "no zygosity and pathogenicity classification indicated" "Unknown" "?" "" "0" "" "" "g.94062710G>A" "" "VUS" ""
"0000825500" "0" "50" "1" "94476477" "94476477" "subst" "0.000125969" "00000" "ABCA4_001099" "g.94476477G>A" "" "{PMID:Ng 2021:33846575}" "" "ABCA4 c.5593C>T, p.H1865Y" "no zygosity and pathogenicity classification indicated" "Unknown" "?" "" "0" "" "" "g.94010921G>A" "" "VUS" ""
"0000825501" "0" "50" "1" "94564543" "94564543" "subst" "0.000211952" "00000" "ABCA4_000945" "g.94564543G>A" "" "{PMID:Ng 2021:33846575}" "" "ABCA4 c.575C>T, p.A192V" "no zygosity and pathogenicity classification indicated" "Unknown" "?" "" "0" "" "" "g.94098987G>A" "" "VUS" ""
"0000825502" "0" "50" "1" "94466391" "94466391" "subst" "0" "00000" "ABCA4_000813" "g.94466391C>G" "" "{PMID:Ng 2021:33846575}" "" "ABCA4 c.6479+1G>C, Splice" "no zygosity and pathogenicity classification indicated" "Unknown" "?" "" "0" "" "" "g.94000835C>G" "" "VUS" ""
"0000825503" "0" "50" "1" "94564355" "94564355" "subst" "0.000105612" "00000" "ABCA4_000365" "g.94564355G>A" "" "{PMID:Ng 2021:33846575}" "" "ABCA4 c.763C>T, p.R255C" "no zygosity and pathogenicity classification indicated" "Unknown" "?" "" "0" "" "" "g.94098799G>A" "" "VUS" ""
"0000825504" "0" "50" "1" "94497432" "94497432" "subst" "5.69907E-5" "00000" "ABCA4_002335" "g.94497432G>C" "" "{PMID:Ng 2021:33846575}" "" "ABCA4 c.4030C>G, p.L1344V" "no zygosity and pathogenicity classification indicated" "Unknown" "?" "" "0" "" "" "g.94031876G>C" "" "VUS" ""
"0000825505" "0" "50" "1" "94466474" "94466474" "subst" "0" "00000" "ABCA4_001202" "g.94466474A>G" "" "{PMID:Ng 2021:33846575}" "" "ABCA4 c.6397T>C, p.C2133R" "no zygosity and pathogenicity classification indicated" "Unknown" "?" "" "0" "" "" "g.94000918A>G" "" "VUS" ""
"0000825506" "0" "50" "1" "94496627" "94496627" "subst" "8.12585E-6" "00000" "ABCA4_002332" "g.94496627A>G" "" "{PMID:Ng 2021:33846575}" "" "ABCA4 c.4178T>C, p.V1393A" "no zygosity and pathogenicity classification indicated" "Unknown" "?" "" "0" "" "" "g.94031071A>G" "" "VUS" ""
"0000825507" "0" "50" "1" "94502888" "94502888" "subst" "0.00310941" "00000" "ABCA4_000603" "g.94502888A>G" "" "{PMID:Ng 2021:33846575}" "" "ABCA4 c.3626T>C, p.M1209T" "no zygosity and pathogenicity classification indicated" "Unknown" "?" "" "0" "" "" "g.94037332A>G" "" "VUS" ""
"0000825571" "21" "50" "1" "94485137" "94485137" "subst" "0" "00000" "ABCA4_000464" "g.94485137C>T" "" "{PMID:Ng 2021:33846575}" "" "ABCA4 c.5196+1G>A," "no pathogenicity classification indicated" "Germline" "?" "" "0" "" "" "g.94019581C>T" "" "VUS" ""
"0000825572" "21" "50" "1" "94485137" "94485137" "subst" "0" "00000" "ABCA4_000464" "g.94485137C>T" "" "{PMID:Ng 2021:33846575}" "" "ABCA4 c.5196+1G>A," "no pathogenicity classification indicated" "Germline" "?" "" "0" "" "" "g.94019581C>T" "" "VUS" ""
"0000825578" "0" "50" "1" "94466474" "94466474" "subst" "0" "00000" "ABCA4_001202" "g.94466474A>G" "" "{PMID:Ng 2021:33846575}" "" "ABCA4 c.6397T>C, p.C2133R" "no pathogenicity classification indicated" "Unknown" "?" "" "0" "" "" "g.94000918A>G" "" "VUS" ""
"0000825579" "0" "50" "1" "94496053" "94496053" "subst" "0.00437371" "00000" "ABCA4_000556" "g.94496053G>A" "" "{PMID:Ng 2021:33846575}" "" "ABCA4 c.4283C>T, p.T1428M" "no zygosity and pathogenicity classification indicated" "Unknown" "?" "" "0" "" "" "g.94030497G>A" "" "VUS" ""
"0000825580" "0" "50" "1" "94526199" "94526199" "del" "0" "00000" "ABCA4_001526" "g.94526199del" "" "{PMID:Ng 2021:33846575}" "" "ABCA4 c.2054delC, p.T685Tfs*0" "no zygosity and pathogenicity classification indicated" "Unknown" "?" "" "0" "" "" "g.94060643del" "" "VUS" ""
"0000825581" "0" "50" "1" "94466639" "94466639" "subst" "0" "00000" "ABCA4_002328" "g.94466639T>C" "" "{PMID:Ng 2021:33846575}" "" "ABCA4 c.6305A>G, p.D2102G" "no zygosity and pathogenicity classification indicated" "Unknown" "?" "" "0" "" "" "g.94001083T>C" "" "VUS" ""
"0000825682" "0" "70" "1" "94487397" "94487397" "subst" "0" "00000" "ABCA4_000493" "g.94487397C>T" "" "{PMID:Liu-2020:33090715}" "" "c.4773+5G>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000825683" "0" "70" "1" "94528867" "94528867" "del" "0" "00000" "ABCA4_000304" "g.94528867del" "" "{PMID:Liu-2020:33090715}" "" "c.1561delG" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000825709" "3" "70" "1" "94476890" "94476890" "subst" "0" "00000" "ABCA4_001386" "g.94476890G>A" "" "{PMID:Liu-2020:33090715}" "" "c.5512C>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000825736" "0" "70" "1" "94520830" "94520830" "subst" "0" "00000" "ABCA4_000727" "g.94520830G>C" "" "{PMID:Liu-2020:33090715}" "" "c.2424C>G" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000825737" "0" "70" "1" "94528137" "94528137" "subst" "2.03363E-5" "00000" "ABCA4_000774" "g.94528137C>T" "" "{PMID:Liu-2020:33090715}" "" "c.1933G>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000825795" "0" "70" "1" "94471056" "94471056" "subst" "2.84398E-5" "00000" "ABCA4_000050" "g.94471056G>A" "" "{PMID:Liu-2020:33090715}" "" "c.6088C>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000825796" "0" "70" "1" "94480241" "94480241" "subst" "7.71705E-5" "00000" "ABCA4_000446" "g.94480241G>A" "" "{PMID:Liu-2020:33090715}" "" "c.5318C>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000825797" "0" "70" "1" "94463583" "94463583" "subst" "8.12183E-6" "00000" "ABCA4_000806" "g.94463583A>G" "" "{PMID:Liu-2020:33090715}" "" "c.6563T>C" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000825798" "0" "70" "1" "94512499" "94512499" "subst" "0.000130029" "00000" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Liu-2020:33090715}" "" "c.2894A>G" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000825898" "0" "70" "1" "94463583" "94463583" "subst" "8.12183E-6" "00000" "ABCA4_000806" "g.94463583A>G" "" "{PMID:Liu-2020:33090715}" "" "c.6563T>C" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000825899" "0" "70" "1" "94506935" "94506935" "subst" "4.06098E-6" "00000" "ABCA4_000626" "g.94506935G>A" "" "{PMID:Liu-2020:33090715}" "" "c.3352C>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000825921" "0" "70" "1" "94473808" "94473808" "subst" "8.52861E-5" "00000" "ABCA4_000196" "g.94473808C>T" "" "{PMID:Liu-2020:33090715}" "" "c.5881G>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000825922" "0" "70" "1" "94578532" "94578532" "subst" "4.06141E-6" "00000" "ABCA4_002238" "g.94578532C>A" "" "{PMID:Liu-2020:33090715}" "" "c.157G>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000825946" "0" "70" "1" "94471094" "94471094" "subst" "0" "00000" "ABCA4_001629" "g.94471094C>T" "" "{PMID:Liu-2020:33090715}" "" "c.6050G>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000825947" "0" "70" "1" "94485137" "94485137" "subst" "0" "00000" "ABCA4_000464" "g.94485137C>T" "" "{PMID:Liu-2020:33090715}" "" "c.5196+1G>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000825980" "0" "70" "1" "94463479" "94463479" "dup" "0" "00000" "ABCA4_002327" "g.94463479dup" "" "{PMID:Liu-2020:33090715}" "" "c.6667dupC" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000825981" "0" "70" "1" "94528714" "94528714" "subst" "0" "00000" "ABCA4_000296" "g.94528714G>A" "" "{PMID:Liu-2020:33090715}" "" "c.1714C>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000825996" "3" "70" "1" "94578583" "94578588" "del" "2.03122E-5" "00000" "ABCA4_000249" "g.94578583_94578588del" "" "{PMID:Liu-2020:33090715}" "" "c.101_106delTTTAT" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000825997" "0" "70" "1" "94512484" "94512484" "subst" "0" "00000" "ABCA4_000680" "g.94512484G>A" "" "{PMID:Liu-2020:33090715}" "" "c.2909C>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000825998" "0" "70" "1" "94470996" "94480247" "dup" "0" "00000" "ABCA4_002329" "g.94470996_94480247dup" "" "{PMID:Liu-2020:33090715}" "" "E38-44dup" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000826022" "0" "70" "1" "94502729" "94502729" "subst" "0" "00000" "ABCA4_002336" "g.94502729A>G" "" "{PMID:Liu-2020:33090715}" "" "c.3785T>C" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000826023" "0" "70" "1" "94506901" "94506901" "subst" "0.000308665" "00000" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Liu-2020:33090715}" "" "c.3386G>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000826028" "0" "70" "1" "94463416" "94463416" "subst" "0" "00000" "ABCA4_000852" "g.94463416C>T" "" "{PMID:Liu-2020:33090715}" "" "c.6729+1G>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000826029" "0" "70" "1" "94508978" "94508978" "del" "0" "00000" "ABCA4_002337" "g.94508978del" "" "{PMID:Liu-2020:33090715}" "" "c.3104delA" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000826031" "0" "70" "1" "94512490" "94512490" "subst" "0" "00000" "ABCA4_002339" "g.94512490C>T" "" "{PMID:Liu-2020:33090715}" "" "c.2903G>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000826032" "0" "70" "1" "94528137" "94528137" "subst" "2.03363E-5" "00000" "ABCA4_000774" "g.94528137C>T" "" "{PMID:Liu-2020:33090715}" "" "c.1933G>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000826033" "0" "70" "1" "94471026" "94471026" "subst" "1.21925E-5" "00000" "ABCA4_000791" "g.94471026G>A" "" "{PMID:Liu-2020:33090715}" "" "c.6118C>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000826034" "0" "70" "1" "94528137" "94528137" "subst" "2.03363E-5" "00000" "ABCA4_000774" "g.94528137C>T" "" "{PMID:Liu-2020:33090715}" "" "c.1933G>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000826063" "0" "70" "1" "94544208" "94544208" "subst" "0.000158364" "00000" "ABCA4_000320" "g.94544208C>T" "" "{PMID:Liu-2020:33090715}" "" "c.G1294A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000826064" "0" "70" "1" "94520781" "94520781" "subst" "8.53867E-5" "00000" "ABCA4_001377" "g.94520781C>T" "" "{PMID:Liu-2020:33090715}" "" "c.2473G>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000826065" "0" "70" "1" "94471026" "94471026" "subst" "1.21925E-5" "00000" "ABCA4_000791" "g.94471026G>A" "" "{PMID:Liu-2020:33090715}" "" "c.6118C>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000826066" "0" "70" "1" "94509026" "94509026" "subst" "4.06497E-5" "00000" "ABCA4_000660" "g.94509026G>A" "" "{PMID:Liu-2020:33090715}" "" "c.3056C>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000826067" "0" "70" "1" "94485246" "94485246" "subst" "0" "00000" "ABCA4_002330" "g.94485246G>T" "" "{PMID:Liu-2020:33090715}" "" "c.5088C>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000826068" "0" "70" "1" "94526190" "94526190" "dup" "0" "00000" "ABCA4_001308" "g.94526190dup" "" "{PMID:Liu-2020:33090715}" "" "c.2063dupA" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000826103" "0" "70" "1" "94466658" "94466658" "subst" "8.14817E-6" "00000" "ABCA4_000132" "g.94466658C>T" "" "{PMID:Liu-2020:33090715}" "" "c.6286G>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000826104" "0" "70" "1" "94495983" "94495983" "subst" "8.12348E-6" "00000" "ABCA4_000547" "g.94495983C>T" "" "{PMID:Liu-2020:33090715}" "" "c.4352+1G>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000826109" "0" "70" "1" "94463476" "94463477" "ins" "0" "00000" "ABCA4_002326" "g.94463476_94463477insN[28]" "" "{PMID:Liu-2020:33090715}" "" "c.6669_6670ins28bp" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000826110" "0" "70" "1" "94528266" "94528266" "subst" "4.477E-5" "00000" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Liu-2020:33090715}" "" "c.1804C>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000826112" "0" "70" "1" "94526302" "94526302" "subst" "0" "00000" "ABCA4_002342" "g.94526302G>A" "" "{PMID:Liu-2020:33090715}" "" "c.1951C>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000826113" "0" "70" "1" "94496588" "94496588" "subst" "0" "00000" "ABCA4_000567" "g.94496588T>C" "" "{PMID:Liu-2020:33090715}" "" "c.4217A>G" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000826121" "0" "70" "1" "94471094" "94471094" "subst" "0" "00000" "ABCA4_001629" "g.94471094C>T" "" "{PMID:Liu-2020:33090715}" "" "c.6050G>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000826122" "0" "70" "1" "94508976" "94508976" "subst" "1.21906E-5" "00000" "ABCA4_000655" "g.94508976C>T" "" "{PMID:Liu-2020:33090715}" "" "c.3106G>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000826144" "0" "70" "1" "94528867" "94528867" "del" "0" "00000" "ABCA4_000304" "g.94528867del" "" "{PMID:Liu-2020:33090715}" "" "c.1561delG" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000826145" "0" "70" "1" "94471032" "94471032" "subst" "1.62553E-5" "00000" "ABCA4_000792" "g.94471032G>A" "" "{PMID:Liu-2020:33090715}" "" "c.6112C>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000826159" "0" "70" "1" "94520830" "94520830" "subst" "0" "00000" "ABCA4_000727" "g.94520830G>C" "" "{PMID:Liu-2020:33090715}" "" "c.2424C>G" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000826160" "0" "70" "1" "94512499" "94512499" "subst" "0.000130029" "00000" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Liu-2020:33090715}" "" "c.2894A>G" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000826163" "0" "70" "1" "94520853" "94520853" "subst" "0" "00000" "ABCA4_002340" "g.94520853G>A" "" "{PMID:Liu-2020:33090715}" "" "c.2401C>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000826164" "0" "70" "1" "94578583" "94578588" "del" "2.03122E-5" "00000" "ABCA4_000249" "g.94578583_94578588del" "" "{PMID:Liu-2020:33090715}" "" "c.101_106delCTTTAT" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000826165" "0" "70" "1" "94497386" "94497386" "subst" "0" "00000" "ABCA4_002334" "g.94497386A>G" "" "{PMID:Liu-2020:33090715}" "" "c.4076T>C" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000826166" "0" "70" "1" "94528867" "94528867" "del" "0" "00000" "ABCA4_000304" "g.94528867del" "" "{PMID:Liu-2020:33090715}" "" "c.1561delG" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000826181" "0" "70" "1" "94512499" "94512499" "subst" "0.000130029" "00000" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Liu-2020:33090715}" "" "c.2894A>G" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000826182" "0" "70" "1" "94520830" "94520830" "subst" "0" "00000" "ABCA4_000727" "g.94520830G>C" "" "{PMID:Liu-2020:33090715}" "" "c.2424C>G" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000826185" "0" "70" "1" "94495008" "94495008" "subst" "0" "00000" "ABCA4_001802" "g.94495008G>T" "" "{PMID:Liu-2020:33090715}" "" "c.4532C>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000826186" "0" "70" "1" "94506867" "94506867" "subst" "0" "00000" "ABCA4_001296" "g.94506867G>C" "" "{PMID:Liu-2020:33090715}" "" "c.3420C>G" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000826193" "3" "70" "1" "94520830" "94520830" "subst" "0" "00000" "ABCA4_000727" "g.94520830G>C" "" "{PMID:Liu-2020:33090715}" "" "c.2424C>G" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000826197" "3" "70" "1" "94512499" "94512499" "subst" "0.000130029" "00000" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Liu-2020:33090715}" "" "c.2894A>G" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000826220" "0" "70" "1" "94502706" "94502706" "subst" "0" "00000" "ABCA4_000597" "g.94502706C>A" "" "{PMID:Liu-2020:33090715}" "" "c.3808G>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000826221" "0" "70" "1" "94528748" "94528748" "del" "0" "00000" "ABCA4_002092" "g.94528748del" "" "{PMID:Liu-2020:33090715}" "" "c.1680delC" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000826227" "0" "70" "1" "94471049" "94471049" "subst" "0" "00000" "ABCA4_000795" "g.94471049T>C" "" "{PMID:Liu-2020:33090715}" "" "c.6095A>G" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000826228" "0" "70" "1" "94520830" "94520830" "subst" "0" "00000" "ABCA4_000727" "g.94520830G>C" "" "{PMID:Liu-2020:33090715}" "" "c.2424C>G" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000826242" "3" "70" "1" "94512499" "94512499" "subst" "0.000130029" "00000" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Liu-2020:33090715}" "" "c.2894A>G" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000826250" "0" "70" "1" "94528748" "94528748" "del" "0" "00000" "ABCA4_002092" "g.94528748del" "" "{PMID:Liu-2020:33090715}" "" "c.1680delC" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000826251" "0" "70" "1" "94522380" "94522380" "subst" "0" "00000" "ABCA4_002341" "g.94522380T>C" "" "{PMID:Liu-2020:33090715}" "" "c.2161-2A>G" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000826270" "0" "70" "1" "94528780" "94528780" "subst" "4.06171E-6" "00000" "ABCA4_000299" "g.94528780C>T" "" "{PMID:Liu-2020:33090715}" "" "c.1648G>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000826271" "0" "70" "1" "94510204" "94510204" "del" "0" "00000" "ABCA4_002338" "g.94510204del" "" "{PMID:Liu-2020:33090715}" "" "c.3015delG" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000826281" "0" "70" "1" "94488941" "94488941" "subst" "0" "00000" "ABCA4_001772" "g.94488941C>A" "" "{PMID:Liu-2020:33090715}" "" "c.4667+1G>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000826282" "0" "70" "1" "94526295" "94526295" "subst" "3.69731E-5" "00000" "ABCA4_000114" "g.94526295C>T" "" "{PMID:Liu-2020:33090715}" "" "c.1958G>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000826318" "3" "70" "1" "94512499" "94512499" "subst" "0.000130029" "00000" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Liu-2020:33090715}" "" "c.2894A>G" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000826322" "0" "70" "1" "94496039" "94496039" "subst" "0.00157963" "00000" "ABCA4_000552" "g.94496039C>T" "" "{PMID:Liu-2020:33090715}" "" "c.4297G>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000826323" "0" "70" "1" "94502888" "94502888" "subst" "0.00310941" "00000" "ABCA4_000603" "g.94502888A>G" "" "{PMID:Liu-2020:33090715}" "" "c.3626T>C" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000826335" "3" "70" "1" "94496548" "94496548" "subst" "2.43787E-5" "00000" "ABCA4_000088" "g.94496548G>A" "" "{PMID:Liu-2020:33090715}" "" "c.4253+4C>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000826357" "0" "70" "1" "94528713" "94528713" "subst" "4.87381E-5" "00000" "ABCA4_000072" "g.94528713C>T" "" "{PMID:Liu-2020:33090715}" "" "c.1715G>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000826358" "0" "70" "1" "94483979" "94483979" "subst" "0" "00000" "ABCA4_000018" "g.94483979C>T" "" "{PMID:Liu-2020:33090715}" "" "c.5196+1159G>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000826361" "0" "70" "1" "94487397" "94487397" "subst" "0" "00000" "ABCA4_000493" "g.94487397C>T" "" "{PMID:Liu-2020:33090715}" "" "c.4773+5G>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000826362" "0" "70" "1" "94528867" "94528867" "del" "0" "00000" "ABCA4_000304" "g.94528867del" "" "{PMID:Liu-2020:33090715}" "" "c.1561delG" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000826363" "0" "70" "1" "94564355" "94564355" "subst" "0.000105612" "00000" "ABCA4_000365" "g.94564355G>A" "" "{PMID:Liu-2020:33090715}" "" "c.763C>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000826364" "0" "70" "1" "94483979" "94483979" "subst" "0" "00000" "ABCA4_000018" "g.94483979C>T" "" "{PMID:Liu-2020:33090715}" "" "c.5196+1159G>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000826368" "0" "70" "1" "94466655" "94466655" "subst" "0" "00000" "ABCA4_000842" "g.94466655G>A" "" "{PMID:Liu-2020:33090715}" "" "c.6289C>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000826369" "0" "70" "1" "94520830" "94520830" "subst" "0" "00000" "ABCA4_000727" "g.94520830G>C" "" "{PMID:Liu-2020:33090715}" "" "c.2424C>G" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000826370" "0" "70" "1" "94471056" "94471056" "subst" "2.84398E-5" "00000" "ABCA4_000050" "g.94471056G>A" "" "{PMID:Liu-2020:33090715}" "" "c.6088C>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000826371" "0" "70" "1" "94512499" "94512499" "subst" "0.000130029" "00000" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Liu-2020:33090715}" "" "c.2894A>G" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000826385" "0" "70" "1" "94463583" "94463583" "subst" "8.12183E-6" "00000" "ABCA4_000806" "g.94463583A>G" "" "{PMID:Liu-2020:33090715}" "" "c.6563T>C" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000826386" "0" "70" "1" "94471032" "94471032" "subst" "1.62553E-5" "00000" "ABCA4_000792" "g.94471032G>A" "" "{PMID:Liu-2020:33090715}" "" "c.6112C>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000826389" "0" "70" "1" "94564355" "94564355" "subst" "0.000105612" "00000" "ABCA4_000365" "g.94564355G>A" "" "{PMID:Liu-2020:33090715}" "" "c.763C>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000826390" "0" "70" "1" "94520830" "94520830" "subst" "0" "00000" "ABCA4_000727" "g.94520830G>C" "" "{PMID:Liu-2020:33090715}" "" "c.2424C>G" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000826396" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Liu-2020:33090715}" "" "c.5882G>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000826397" "0" "70" "1" "94512499" "94512499" "subst" "0.000130029" "00000" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Liu-2020:33090715}" "" "c.2894A>G" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000826506" "3" "90" "1" "94528251" "94528251" "subst" "2.84824E-5" "00000" "ABCA4_000281" "g.94528251C>T" "" "{PMID:Salmaninejad-202:33173045}" "" "c.1819G>A" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" ""
"0000826510" "3" "90" "1" "94508385" "94508385" "subst" "4.06095E-6" "00000" "ABCA4_001932" "g.94508385T>C" "" "{PMID:Salmaninejad-202:33173045}" "" "c.3260A>G" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" ""
"0000826511" "3" "90" "1" "94508385" "94508385" "subst" "4.06095E-6" "00000" "ABCA4_001932" "g.94508385T>C" "" "{PMID:Salmaninejad-202:33173045}" "" "c.3260A>G" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" ""
"0000826517" "0" "90" "1" "94471065" "94471065" "subst" "0.000194997" "03779" "ABCA4_000384" "g.94471065G>A" "" "" "" "" "" "CLASSIFICATION record" "" "rs61751408" "0" "" "" "" "" "pathogenic" ""
"0000826958" "0" "90" "1" "94564484" "94564484" "subst" "0.000110199" "00000" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Thorsteinsson 2021:33851411}" "" "ABCA4 c.634C>T, p.Arg212Cys" "heterozygous" "Unknown" "?" "" "0" "" "" "g.94098928G>A" "" "pathogenic" ""
"0000826959" "0" "70" "1" "94520717" "94520717" "subst" "0" "00000" "ABCA4_001367" "g.94520717T>A" "" "{PMID:Thorsteinsson 2021:33851411}" "" "ABCA4 c.2537A>T, p.Asp846Val" "heterozygous" "Unknown" "?" "" "0" "" "" "g.94055161T>A" "" "likely pathogenic" ""
"0000826960" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "00000" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Thorsteinsson 2021:33851411}" "" "ABCA4 c.768G>T, p.Val256Val" "heterozygous" "Unknown" "?" "" "0" "" "" "g.94098794C>A" "" "pathogenic" ""
"0000826961" "0" "90" "1" "94526289" "94526289" "subst" "0.000417202" "00000" "ABCA4_000767" "g.94526289A>C" "" "{PMID:Thorsteinsson 2021:33851411}" "" "ABCA4 c.1964T>G, p.Phe655Cys" "heterozygous" "Unknown" "?" "" "0" "" "" "g.94060733A>C" "" "pathogenic" ""
"0000826962" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "00000" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Thorsteinsson 2021:33851411}" "" "ABCA4 c.768G>T, p.Val256Val" "heterozygous" "Unknown" "?" "" "0" "" "" "g.94098794C>A" "" "pathogenic" ""
"0000826963" "0" "70" "1" "94520717" "94520717" "subst" "0" "00000" "ABCA4_001367" "g.94520717T>A" "" "{PMID:Thorsteinsson 2021:33851411}" "" "ABCA4 c.2537A>T, p.Asp846Val" "heterozygous" "Unknown" "?" "" "0" "" "" "g.94055161T>A" "" "likely pathogenic" ""
"0000826964" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "00000" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Thorsteinsson 2021:33851411}" "" "ABCA4 c.768G>T, p.Val256Val" "heterozygous" "Unknown" "?" "" "0" "" "" "g.94098794C>A" "" "pathogenic" ""
"0000826965" "0" "50" "1" "94476377" "94476377" "subst" "0.00160473" "00000" "ABCA4_000411" "g.94476377C>T" "" "{PMID:Thorsteinsson 2021:33851411}" "" "ABCA4 c.5693G>A, p.Arg1898His" "heterozygous" "Unknown" "?" "" "0" "" "" "g.94010821C>T" "" "VUS" ""
"0000826966" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "00000" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Thorsteinsson 2021:33851411}" "" "ABCA4 c.768G>T, p.Val256Val" "heterozygous" "Unknown" "?" "" "0" "" "" "g.94098794C>A" "" "pathogenic" ""
"0000826967" "0" "90" "1" "94471055" "94471055" "subst" "0.00035346" "00000" "ABCA4_000029" "g.94471055C>T" "" "{PMID:Thorsteinsson 2021:33851411}" "" "ABCA4 c.6089G>A, p.Arg2030Gln" "heterozygous" "Unknown" "?" "" "0" "" "" "g.94005499C>T" "" "pathogenic" ""
"0000826968" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "00000" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Thorsteinsson 2021:33851411}" "" "ABCA4 c.768G>T, p.Val256Val" "heterozygous, causality unknown" "Unknown" "?" "" "0" "" "" "g.94098794C>A" "" "pathogenic" ""
"0000826969" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "00000" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Thorsteinsson 2021:33851411}" "" "ABCA4 c.768G>T, p.Val256Val" "heterozygous, causality unknown" "Unknown" "?" "" "0" "" "" "g.94098794C>A" "" "pathogenic" ""
"0000826970" "0" "90" "1" "94528806" "94528806" "subst" "0.000150298" "00000" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Thorsteinsson 2021:33851411}" "" "ABCA4 c.1622T>C, p.Leu541Pro" "homozygous" "Unknown" "?" "" "0" "" "" "g.94063250A>G" "" "pathogenic" ""
"0000826971" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "00000" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Thorsteinsson 2021:33851411}" "" "ABCA4 c.3113C>T, p.Ala1038Val" "homozygous" "Unknown" "?" "" "0" "" "" "g.94043413G>A" "" "pathogenic" ""
"0000826972" "0" "70" "1" "94496627" "94496627" "del" "0" "00000" "ABCA4_002333" "g.94496627del" "" "{PMID:Thorsteinsson 2021:33851411}" "" "ABCA4 c.4179del, p.lle1394Serfs*10" "heterozygous" "Unknown" "?" "" "0" "" "" "g.94031071del" "" "likely pathogenic" ""
"0000826973" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Thorsteinsson 2021:33851411}" "" "ABCA4 c.5603A>T, p.Asn1868lle" "heterozygous" "Unknown" "?" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic" ""
"0000826974" "0" "90" "1" "94484001" "94484001" "subst" "0" "00000" "ABCA4_000016" "g.94484001C>T" "" "{PMID:Thorsteinsson 2021:33851411}" "" "ABCA4 c.5196+1137G>A, Affects introns, enhances splice site" "heterozygous" "Unknown" "?" "" "0" "" "" "g.94018445C>T" "" "pathogenic" ""
"0000826975" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "00000" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Thorsteinsson 2021:33851411}" "" "ABCA4 c.5461-10T>C, Affects introns" "heterozygous" "Unknown" "?" "" "0" "" "" "g.94011395A>G" "" "pathogenic" ""
"0000828085" "0" "70" "1" "94564445" "94564445" "subst" "0.000203219" "00000" "ABCA4_001127" "g.94564445C>T" "" "{PMID:Buhler 2021:34073554}" "" "ABCA4 c.673G>A, p.(Val225Met)" "heterozygous" "Unknown" "?" "" "0" "" "" "g.94098889C>T" "" "likely pathogenic" "ACMG"
"0000828086" "0" "90" "1" "94528666" "94528666" "subst" "0" "00000" "ABCA4_002086" "g.94528666A>G" "" "{PMID:Buhler 2021:34073554}" "" "ABCA4 c.1760+2T>C, p.?" "heterozygous" "Unknown" "?" "" "0" "" "" "g.94063110A>G" "" "pathogenic" "ACMG"
"0000828087" "0" "70" "1" "94497338" "94497338" "subst" "4.09836E-6" "00000" "ABCA4_001462" "g.94497338G>T" "" "{PMID:Buhler 2021:34073554}" "" "ABCA4 c.4124C>A, p.(Ala1375Glu)" "heterozygous" "Unknown" "?" "" "0" "" "" "g.94031782G>T" "" "likely pathogenic" "ACMG"
"0000828088" "11" "90" "1" "94508323" "94508323" "subst" "0.000125953" "00000" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Buhler 2021:34073554}" "" "ABCA4 c.3322C>T, p.(Arg1108Cys)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.94042767G>A" "" "pathogenic" "ACMG"
"0000828089" "0" "70" "1" "94502756" "94502756" "subst" "0.000422575" "00000" "ABCA4_000032" "g.94502756G>A" "" "{PMID:Buhler 2021:34073554}" "" "ABCA4 c.3758C>T, p.(Thr1253Met)" "heterozygous" "Unknown" "?" "" "0" "" "" "g.94037200G>A" "" "likely pathogenic" "ACMG"
"0000828090" "0" "90" "1" "94564484" "94564484" "subst" "0.000110199" "00000" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Buhler 2021:34073554}" "" "ABCA4 c.634C>T, p.(Arg212Cys)" "heterozygous" "Unknown" "?" "" "0" "" "" "g.94098928G>A" "" "pathogenic" "ACMG"
"0000828091" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "00000" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Buhler 2021:34073554}" "" "ABCA4 c.1622T>C, p.(Leu541Pro)" "heterozygous" "Unknown" "?" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" "ACMG"
"0000828092" "0" "70" "1" "94520853" "94520853" "subst" "8.14783E-6" "00000" "ABCA4_000729" "g.94520853C>T" "" "{PMID:Buhler 2021:34073554}" "" "ABCA4 c.2401G>A, p.(Ala801Thr)" "heterozygous" "Unknown" "?" "" "0" "" "" "g.94055297C>T" "" "likely pathogenic" "ACMG"
"0000828093" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "00000" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Buhler 2021:34073554}" "" "ABCA4 c.1804C>T, p.(Arg602Trp)" "heterozygous" "Unknown" "?" "" "0" "" "" "g.94062710G>A" "" "pathogenic" "ACMG"
"0000828094" "0" "90" "1" "94544200" "94544200" "del" "4.06072E-6" "00000" "ABCA4_000319" "g.94544200del" "" "{PMID:Buhler 2021:34073554}" "" "ABCA4 c.1302delA, p.(Gln437Argfs*12)" "heterozygous" "Unknown" "?" "" "0" "" "" "g.94078644del" "" "pathogenic" "ACMG"
"0000828095" "21" "70" "1" "94528263" "94528263" "subst" "0" "00000" "ABCA4_001348" "g.94528263A>G" "" "{PMID:Buhler 2021:34073554}" "" "ABCA4 c.1807T>C, p.(Tyr603His)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.94062707A>G" "" "likely pathogenic" "ACMG"
"0000828107" "0" "90" "1" "94471025" "94471025" "subst" "0.00031698" "00000" "ABCA4_000096" "g.94471025C>T" "" "{PMID:Buhler 2021:34073554}" "" "ABCA4 c.6119G>A, p.(Arg2040Gln)" "heterozygous" "Unknown" "?" "" "0" "" "" "g.94005469C>T" "" "pathogenic" "ACMG"
"0000828108" "0" "70" "1" "94502787" "94502787" "subst" "0" "00000" "ABCA4_001107" "g.94502787A>C" "" "{PMID:Buhler 2021:34073554}" "" "ABCA4 c.3727T>G, p.(Tyr1243Asp)" "heterozygous" "Unknown" "?" "" "0" "" "" "g.94037231A>C" "" "likely pathogenic" "ACMG"
"0000828109" "0" "70" "1" "94480182" "94480182" "subst" "0" "00000" "ABCA4_001452" "g.94480182C>T" "" "{PMID:Buhler 2021:34073554}" "" "ABCA4 c.5377G>A, p.(Val1793Met)" "heterozygous" "Unknown" "?" "" "0" "" "" "g.94014626C>T" "" "likely pathogenic" "ACMG"
"0000828110" "11" "90" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Buhler 2021:34073554}" "" "ABCA4 c.5882G>A, p.(Gly1961Glu)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "pathogenic" "ACMG"
"0000828111" "21" "50" "1" "94466624" "94466624" "subst" "0.0014345" "00000" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Buhler 2021:34073554}" "" "ABCA4 c.6320G>A, p.(Arg2107His)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.94001068C>T" "" "VUS" "ACMG"
"0000828112" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Buhler 2021:34073554}" "" "ABCA4 c.5882G>A, p.(Gly1961Glu)" "heterozygous" "Unknown" "?" "" "0" "" "" "g.94008251C>T" "" "pathogenic" "ACMG"
"0000828113" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Buhler 2021:34073554}" "" "ABCA4 c.5882G>A, p.(Gly1961Glu)" "heterozygous" "Unknown" "?" "" "0" "" "" "g.94008251C>T" "" "pathogenic" "ACMG"
"0000828114" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "00000" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Buhler 2021:34073554}" "" "ABCA4 c.2588G>C, p.[(Gly863Ala,Gly863del)" "heterozygous" "Unknown" "?" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic" "ACMG"
"0000828115" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "00000" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Buhler 2021:34073554}" "" "ABCA4 c.3113C>T, p.(Ala1038Val)" "heterozygous" "Unknown" "?" "" "0" "" "" "g.94043413G>A" "" "pathogenic" "ACMG"
"0000828116" "0" "90" "1" "94486794" "94486794" "subst" "0" "00000" "ABCA4_000478" "g.94486794A>G" "" "{PMID:Buhler 2021:34073554}" "" "ABCA4 c.5018+2T>C, p.?" "heterozygous" "Unknown" "?" "" "0" "" "" "g.94021238A>G" "" "pathogenic" "ACMG"
"0000828117" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Buhler 2021:34073554}" "" "ABCA4 c.5882G>A, p.(Gly1961Glu)" "heterozygous" "Unknown" "?" "" "0" "" "" "g.94008251C>T" "" "pathogenic" "ACMG"
"0000828118" "0" "70" "1" "94496039" "94496039" "subst" "0.00157963" "00000" "ABCA4_000552" "g.94496039C>T" "" "{PMID:Buhler 2021:34073554}" "" "ABCA4 c.4297G>A, p.(Val1433Ile)" "heterozygous" "Unknown" "?" "" "0" "" "" "g.94030483C>T" "" "likely pathogenic" "ACMG"
"0000828119" "11" "70" "1" "94495044" "94495044" "subst" "0" "00000" "ABCA4_002331" "g.94495044A>G" "" "{PMID:Buhler 2021:34073554}" "" "ABCA4 c.4496T>C, p.(Leu1499Pro)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.94029488A>G" "" "likely pathogenic" "ACMG"
"0000828320" "0" "50" "1" "94488941" "94488941" "subst" "4.09836E-6" "00000" "ABCA4_000127" "g.94488941C>T" "" "{PMID:Sodi 2021:34240658}" "" "ABCA4 c.4667+1G>A, p.?" "heterozygous" "Unknown" "?" "" "0" "" "" "g.94023385C>T" "" "VUS" ""
"0000828321" "0" "50" "1" "94490567" "94490567" "subst" "5.68528E-5" "00000" "ABCA4_000026" "g.94490567G>A" "" "{PMID:Sodi 2021:34240658}" "" "ABCA4 c.4577C>T, p.(Thr1526Met)" "heterozygous" "Unknown" "?" "" "0" "" "" "g.94025011G>A" "" "VUS" ""
"0000828322" "0" "50" "1" "94514477" "94514477" "subst" "0.00118992" "00000" "ABCA4_000700" "g.94514477G>A" "" "{PMID:Sodi 2021:34240658}" "" "ABCA4 c.2690C>T, p.(Thr897Ile)" "heterozygous" "Unknown" "?" "" "0" "" "" "g.94048921G>A" "" "VUS" ""
"0000828350" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Sodi 2021:34240658}" "" "ABCA4 c.5603A>T, p.(Asn1868Ile)" "heterozygous" "Unknown" "?" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000828733" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "00000" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Chen 2021:43360855}" "" "ABCA4 c.101_106del(;)1804C>T, V1: c.1804C>T, (p.Arg602Trp)" "alleles in cis or trans; heterozygous" "Unknown" "?" "" "0" "" "" "g.94062710G>A" "" "pathogenic" "ACMG"
"0000828734" "0" "70" "1" "94474381" "94474381" "subst" "1.21849E-5" "00000" "ABCA4_000410" "g.94474381C>T" "" "{PMID:Chen 2021:43360855}" "" "ABCA4 c.101_106del(;)5761G>A, V1: c.5761G>A, (p.Val1921Met)" "alleles in cis or trans; heterozygous" "Unknown" "?" "" "0" "" "" "g.94008825C>T" "" "likely pathogenic" "ACMG"
"0000828755" "0" "70" "1" "94466624" "94466624" "subst" "0.0014345" "00000" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Chen 2021:43360855}" "" "ABCA4 c.1531C>T(;)6320G>A, V1: c.6320G>A, (p.Arg2107His)" "alleles in cis or trans; heterozygous" "Unknown" "?" "" "0" "" "" "g.94001068C>T" "" "likely pathogenic" "ACMG"
"0000828757" "0" "70" "1" "94471017" "94471017" "subst" "8.12836E-6" "00000" "ABCA4_001618" "g.94471017G>A" "" "{PMID:Chen 2021:43360855}" "" "ABCA4 c.1804C>T(;)6127C>T, V1: c.6127C>T, (p.Pro2043Ser)" "alleles in cis or trans; heterozygous" "Unknown" "?" "" "0" "" "" "g.94005461G>A" "" "likely pathogenic" "ACMG"
"0000828760" "0" "90" "1" "94471001" "94471001" "del" "0" "00000" "ABCA4_001337" "g.94471001del" "" "{PMID:Chen 2021:43360855}" "" "ABCA4 c.2424C>G(;)6146del, V1: c.6146delA, (p.Lys2049ArgfsTer12)" "alleles in cis or trans; heterozygous" "Unknown" "?" "" "0" "" "" "g.94005445del" "" "pathogenic" "ACMG"
"0000828765" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "00000" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Chen 2021:43360855}" "" "ABCA4 c.1804C>T(;)2894A>G, V1: c.1804C>T, (p.Arg602Trp)" "alleles in cis or trans; heterozygous" "Unknown" "?" "" "0" "" "" "g.94062710G>A" "" "pathogenic" "ACMG"
"0000828766" "0" "70" "1" "94508341" "94508341" "subst" "1.21857E-5" "00000" "ABCA4_001298" "g.94508341C>A" "" "{PMID:Chen 2021:43360855}" "" "ABCA4 c.2894A>G(;)3304G>T, V1: c.3304G>T, (p.Asp1102Tyr)" "alleles in cis or trans; heterozygous" "Unknown" "?" "" "0" "" "" "g.94042785C>A" "" "likely pathogenic" "ACMG"
"0000828770" "0" "90" "1" "94528868" "94528868" "del" "0" "00000" "ABCA4_000304" "g.94528868del" "" "{PMID:Chen 2021:43360855}" "" "ABCA4 c.1561del(;)3004C>T, V1: c.1561delG, (p.Val521SerfsTer47)" "alleles in cis or trans; heterozygous" "Unknown" "?" "" "0" "" "" "g.94063312del" "" "pathogenic" "ACMG"
"0000828773" "0" "90" "1" "94487197" "94487198" "ins" "0" "00000" "ABCA4_001753" "g.94487197_94487198insA" "" "{PMID:Chen 2021:43360855}" "" "ABCA4 c.3329-3C>G(;)4846_4847insT, V1: c.4846_4847insT, (p.Lys1616IlefsTer5)" "alleles in cis or trans; heterozygous" "Unknown" "?" "" "0" "" "" "g.94021641_94021642insA" "" "pathogenic" "ACMG"
"0000828775" "0" "90" "1" "94512499" "94512499" "subst" "0.000130029" "00000" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Chen 2021:43360855}" "" "ABCA4 c.2894A>G(;)3352C>T, V1: c.2894A>G, (p.Asn965Ser)" "alleles in cis or trans; heterozygous" "Unknown" "?" "" "0" "" "" "g.94046943T>C" "" "pathogenic" "ACMG"
"0000828783" "0" "90" "1" "94461664" "94461664" "subst" "4.06841E-6" "00000" "ABCA4_000860" "g.94461664C>T" "" "{PMID:Chen 2021:43360855}" "" "ABCA4 c.400C>T(;)6816+1G>A, V1: c.6816+1G>A," "alleles in cis or trans; heterozygous" "Unknown" "?" "" "0" "" "" "g.93996108C>T" "" "pathogenic" "ACMG"
"0000828785" "0" "70" "1" "94471032" "94471032" "subst" "1.62553E-5" "00000" "ABCA4_000792" "g.94471032G>A" "" "{PMID:Chen 2021:43360855}" "" "ABCA4 c.4505G>A(;)6112C>T, V1: c.6112C>T, (p.Arg2038Trp)" "alleles in cis or trans; heterozygous" "Unknown" "?" "" "0" "" "" "g.94005476G>A" "" "likely pathogenic" "ACMG"
"0000828786" "0" "70" "1" "94497392" "94497392" "subst" "0" "00000" "ABCA4_000576" "g.94497392G>T" "" "{PMID:Chen 2021:43360855}" "" "ABCA4 c.4070C>A(;)4519G>A, V1: c.4070C>A, (p.Ala1357Glu)" "alleles in cis or trans; heterozygous" "Unknown" "?" "" "0" "" "" "g.94031836G>T" "" "likely pathogenic" "ACMG"
"0000828787" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "00000" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Chen 2021:43360855}" "" "ABCA4 c.1804C>T(;)4519G>A, V1: c.1804C>T, (p.Arg602Trp)" "alleles in cis or trans; heterozygous" "Unknown" "?" "" "0" "" "" "g.94062710G>A" "" "pathogenic" "ACMG"
"0000828788" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "00000" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Chen 2021:43360855}" "" "ABCA4 c.1804C>T(;)4555del, V1: c.1804C>T, (p.Arg602Trp)" "alleles in cis or trans; heterozygous" "Unknown" "?" "" "0" "" "" "g.94062710G>A" "" "pathogenic" "ACMG"
"0000828789" "0" "70" "1" "94471025" "94471025" "subst" "0.00031698" "00000" "ABCA4_000096" "g.94471025C>T" "" "{PMID:Chen 2021:43360855}" "" "ABCA4 c.4555del(;)6119G>A, V1: c.6119G>A, (p.Arg2040Gln)" "alleles in cis or trans; heterozygous" "Unknown" "?" "" "0" "" "" "g.94005469C>T" "" "likely pathogenic" "ACMG"
"0000828804" "1" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "00000" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Chen 2021:43360855}" "" "ABCA4 c.[1804C>T];[5645T>C], V1: c.1804C>T, (p.Arg602Trp)" "alleles in trans; heterozygous" "Unknown" "?" "" "0" "" "" "g.94062710G>A" "" "pathogenic" "ACMG"
"0000828805" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "00000" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Chen 2021:43360855}" "" "ABCA4 c.1804C>T(;)5761G>A, V1: c.1804C>T, (p.Arg602Trp)" "alleles in cis or trans; heterozygous" "Unknown" "?" "" "0" "" "" "g.94062710G>A" "" "pathogenic" "ACMG"
"0000828806" "0" "70" "1" "94476901" "94476901" "subst" "6.50005E-5" "00000" "ABCA4_001486" "g.94476901A>G" "" "{PMID:Chen 2021:43360855}" "" "ABCA4 c.5501T>C(;)6113G>A, V1: c.5501T>C, (p.Ile1834Thr)" "alleles in cis or trans; heterozygous" "Unknown" "?" "" "0" "" "" "g.94011345A>G" "" "likely pathogenic" "ACMG"
"0000828807" "1" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "00000" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Chen 2021:43360855}" "" "ABCA4 c.[1804C>T];[6113G>A], V1: c.1804C>T, (p.Arg602Trp)" "alleles in trans; heterozygous" "Unknown" "?" "" "0" "" "" "g.94062710G>A" "" "pathogenic" "ACMG"
"0000828808" "0" "50" "1" "94474381" "94474381" "subst" "1.21849E-5" "00000" "ABCA4_000410" "g.94474381C>T" "" "{PMID:Chen 2021:43360855}" "" "ABCA4 c.5761G>A(;)6118C>T, V1: c.5761G>A, (p.Val1921Met)" "alleles in cis or trans; heterozygous" "Unknown" "?" "" "0" "" "" "g.94008825C>T" "" "VUS" "ACMG"
"0000828809" "0" "70" "1" "94508358" "94508358" "subst" "4.06167E-6" "00000" "ABCA4_000636" "g.94508358G>A" "" "{PMID:Chen 2021:43360855}" "" "ABCA4 c.3287C>T(;)6190G>A, V1: c.3287C>T, (p.Ser1096Leu)" "alleles in cis or trans; heterozygous" "Unknown" "?" "" "0" "" "" "g.94042802G>A" "" "likely pathogenic" "ACMG"
"0000828810" "0" "70" "1" "94512566" "94512566" "subst" "7.31149E-5" "00000" "ABCA4_000693" "g.94512566G>A" "" "{PMID:Chen 2021:43360855}" "" "ABCA4 c.2827C>T(;)6498C>G, V1: c.2827C>T, (p.Arg943Trp)" "alleles in cis or trans; heterozygous" "Unknown" "?" "" "0" "" "" "g.94047010G>A" "" "likely pathogenic" "ACMG"
"0000828811" "1" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "00000" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Chen 2021:43360855}" "" "ABCA4 c.[1804C>T];[6722T>C], V1: c.1804C>T, (p.Arg602Trp)" "alleles in trans; heterozygous" "Unknown" "?" "" "0" "" "" "g.94062710G>A" "" "pathogenic" "ACMG"
"0000828816" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "00000" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Chen 2021:43360855}" "" "ABCA4 c.71G>A(;)1804C>T, V1: c.1804C>T, (p.Arg602Trp)" "alleles in cis or trans; heterozygous" "Unknown" "?" "" "0" "" "" "g.94062710G>A" "" "pathogenic" "ACMG"
"0000828829" "0" "90" "1" "94512499" "94512499" "subst" "0.000130029" "00000" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Chen 2021:43360855}" "" "ABCA4 c.858+2T>A(;)2894A>G, V1: c.2894A>G, (p.Asn965Ser)" "alleles in cis or trans; heterozygous" "Unknown" "?" "" "0" "" "" "g.94046943T>C" "" "pathogenic" "ACMG"
"0000828887" "0" "70" "1" "94578589" "94578594" "del" "0" "00000" "ABCA4_000249" "g.94578589_94578594del" "" "{PMID:Chen 2021:43360855}" "" "ABCA4 c.[101_106del];[?], V1: c.101_106delCTTTAT, (p.Ser34_Leu35del)" "single heterozygous variant in a recessive disease: a variant on the other allele is expected but not yet identified" "Unknown" "?" "" "0" "" "" "g.94113033_94113038del" "" "likely pathogenic" "ACMG"
"0000828896" "3" "90" "1" "94466391" "94466391" "subst" "0" "00000" "ABCA4_000813" "g.94466391C>G" "" "{PMID:Chen 2021:43360855}" "" "ABCA4 c.[6479+1G>C];[6479+1G>C], V1: c.6479+1G>C," "homozygous" "Unknown" "?" "" "0" "" "" "g.94000835C>G" "" "pathogenic" "ACMG"
"0000828906" "0" "70" "1" "94508371" "94508371" "subst" "2.03057E-5" "00000" "ABCA4_002343" "g.94508371C>A" "" "{PMID:Chen 2021:43360855}" "" "ABCA4 c.[3274G>T];[?], V1: c.3274G>T, (p.Val1092Leu)" "single heterozygous variant in a recessive disease: a variant on the other allele is expected but not yet identified" "Unknown" "?" "" "0" "" "" "g.94042815C>A" "" "likely pathogenic" "ACMG"
"0000828938" "0" "70" "1" "94578589" "94578594" "del" "0" "00000" "ABCA4_000249" "g.94578589_94578594del" "" "{PMID:Chen 2021:43360855}" "" "ABCA4 c.101_106del(;)1804C>T, V2: c.101_106delCTTTAT, (p.Ser34_Leu35del)" "alleles in cis or trans; heterozygous" "Unknown" "?" "" "0" "" "" "g.94113033_94113038del" "" "likely pathogenic" "ACMG"
"0000828939" "0" "70" "1" "94578589" "94578594" "del" "0" "00000" "ABCA4_000249" "g.94578589_94578594del" "" "{PMID:Chen 2021:43360855}" "" "ABCA4 c.101_106del(;)5761G>A, V2: c.101_106delCTTTAT, (p.Ser34_Leu35del)" "alleles in cis or trans; heterozygous" "Unknown" "?" "" "0" "" "" "g.94113033_94113038del" "" "likely pathogenic" "ACMG"
"0000828960" "0" "70" "1" "94543269" "94543269" "subst" "0.000179087" "00000" "ABCA4_000307" "g.94543269G>A" "" "{PMID:Chen 2021:43360855}" "" "ABCA4 c.1531C>T(;)6320G>A, V2: c.1531C>T, (p.Arg511Cys)" "alleles in cis or trans; heterozygous" "Unknown" "?" "" "0" "" "" "g.94077713G>A" "" "likely pathogenic" "ACMG"
"0000828962" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "00000" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Chen 2021:43360855}" "" "ABCA4 c.1804C>T(;)6127C>T, V2: c.1804C>T, (p.Arg602Trp)" "alleles in cis or trans; heterozygous" "Unknown" "?" "" "0" "" "" "g.94062710G>A" "" "pathogenic" "ACMG"
"0000828965" "0" "90" "1" "94520830" "94520830" "subst" "0" "00000" "ABCA4_000727" "g.94520830G>C" "" "{PMID:Chen 2021:43360855}" "" "ABCA4 c.2424C>G(;)6146del, V2: c.2424C>G, (p.Tyr808Ter)" "alleles in cis or trans; heterozygous" "Unknown" "?" "" "0" "" "" "g.94055274G>C" "" "pathogenic" "ACMG"
"0000828970" "0" "90" "1" "94512499" "94512499" "subst" "0.000130029" "00000" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Chen 2021:43360855}" "" "ABCA4 c.1804C>T(;)2894A>G, V2: c.2894A>G, (p.Asn965Ser)" "alleles in cis or trans; heterozygous" "Unknown" "?" "" "0" "" "" "g.94046943T>C" "" "pathogenic" "ACMG"
"0000828971" "0" "90" "1" "94512499" "94512499" "subst" "0.000130029" "00000" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Chen 2021:43360855}" "" "ABCA4 c.2894A>G(;)3304G>T, V2: c.2894A>G, (p.Asn965Ser)" "alleles in cis or trans; heterozygous" "Unknown" "?" "" "0" "" "" "g.94046943T>C" "" "pathogenic" "ACMG"
"0000828975" "0" "70" "1" "94510215" "94510215" "subst" "1.21818E-5" "00000" "ABCA4_000666" "g.94510215G>A" "" "{PMID:Chen 2021:43360855}" "" "ABCA4 c.1561del(;)3004C>T, V2: c.3004C>T, (p.Arg1002Trp)" "alleles in cis or trans; heterozygous" "Unknown" "?" "" "0" "" "" "g.94044659G>A" "" "likely pathogenic" "ACMG"
"0000828978" "0" "50" "1" "94506961" "94506961" "subst" "0" "00000" "ABCA4_001913" "g.94506961G>C" "" "{PMID:Chen 2021:43360855}" "" "ABCA4 c.3329-3C>G(;)4846_4847insT, V2: c.3329-3C>G," "alleles in cis or trans; heterozygous" "Unknown" "?" "" "0" "" "" "g.94041405G>C" "" "VUS" "ACMG"
"0000828980" "0" "70" "1" "94506935" "94506935" "subst" "4.06098E-6" "00000" "ABCA4_000626" "g.94506935G>A" "" "{PMID:Chen 2021:43360855}" "" "ABCA4 c.2894A>G(;)3352C>T, V2: c.3352C>T, (p.His1118Tyr)" "alleles in cis or trans; heterozygous" "Unknown" "?" "" "0" "" "" "g.94041379G>A" "" "likely pathogenic" "ACMG"
"0000828988" "0" "90" "1" "94574175" "94574175" "subst" "0" "00000" "ABCA4_000214" "g.94574175G>A" "" "{PMID:Chen 2021:43360855}" "" "ABCA4 c.400C>T(;)6816+1G>A, V2: c.400C>T, (p.Gln134Ter)" "alleles in cis or trans; heterozygous" "Unknown" "?" "" "0" "" "" "g.94108619G>A" "" "pathogenic" "ACMG"
"0000828990" "0" "70" "1" "94495035" "94495035" "subst" "0" "00000" "ABCA4_001806" "g.94495035C>T" "" "{PMID:Chen 2021:43360855}" "" "ABCA4 c.4505G>A(;)6112C>T, V2: c.4505G>A, (p.Cys1502Tyr)" "alleles in cis or trans; heterozygous" "Unknown" "?" "" "0" "" "" "g.94029479C>T" "" "likely pathogenic" "ACMG"
"0000828991" "0" "70" "1" "94495021" "94495021" "subst" "0.000161713" "00000" "ABCA4_000538" "g.94495021C>T" "" "{PMID:Chen 2021:43360855}" "" "ABCA4 c.4070C>A(;)4519G>A, V2: c.4519G>A, (p.Gly1507Arg)" "alleles in cis or trans; heterozygous" "Unknown" "?" "" "0" "" "" "g.94029465C>T" "" "likely pathogenic" "ACMG"
"0000828992" "0" "70" "1" "94495021" "94495021" "subst" "0.000161713" "00000" "ABCA4_000538" "g.94495021C>T" "" "{PMID:Chen 2021:43360855}" "" "ABCA4 c.1804C>T(;)4519G>A, V2: c.4519G>A, (p.Gly1507Arg)" "alleles in cis or trans; heterozygous" "Unknown" "?" "" "0" "" "" "g.94029465C>T" "" "likely pathogenic" "ACMG"
"0000828993" "0" "70" "1" "94490589" "94490589" "del" "0" "00000" "ABCA4_000526" "g.94490589del" "" "{PMID:Chen 2021:43360855}" "" "ABCA4 c.1804C>T(;)4555del, V2: c.4555delA, (p.Thr1519ArgfsTer7)" "alleles in cis or trans; heterozygous" "Unknown" "?" "" "0" "" "" "g.94025033del" "" "likely pathogenic" "ACMG"
"0000828994" "0" "70" "1" "94490589" "94490589" "del" "0" "00000" "ABCA4_000526" "g.94490589del" "" "{PMID:Chen 2021:43360855}" "" "ABCA4 c.4555del(;)6119G>A, V2: c.4555delA, (p.Thr1519ArgfsTer7)" "alleles in cis or trans; heterozygous" "Unknown" "?" "" "0" "" "" "g.94025033del" "" "likely pathogenic" "ACMG"
"0000829009" "2" "70" "1" "94476425" "94476425" "subst" "8.12282E-6" "00000" "ABCA4_000419" "g.94476425A>G" "" "{PMID:Chen 2021:43360855}" "" "ABCA4 c.[1804C>T];[5645T>C], V2: c.5645T>C, (p.Met1882Thr)" "alleles in trans; heterozygous" "Unknown" "?" "" "0" "" "" "g.94010869A>G" "" "likely pathogenic" "ACMG"
"0000829010" "0" "50" "1" "94474381" "94474381" "subst" "1.21849E-5" "00000" "ABCA4_000410" "g.94474381C>T" "" "{PMID:Chen 2021:43360855}" "" "ABCA4 c.1804C>T(;)5761G>A, V2: c.5761G>A, (p.Val1921Met)" "alleles in cis or trans; heterozygous" "Unknown" "?" "" "0" "" "" "g.94008825C>T" "" "VUS" "ACMG"
"0000829011" "0" "70" "1" "94471031" "94471031" "subst" "2.43825E-5" "00000" "ABCA4_001620" "g.94471031C>T" "" "{PMID:Chen 2021:43360855}" "" "ABCA4 c.5501T>C(;)6113G>A, V2: c.6113G>A, (p.Arg2038Gln)" "alleles in cis or trans; heterozygous" "Unknown" "?" "" "0" "" "" "g.94005475C>T" "" "likely pathogenic" "ACMG"
"0000829012" "2" "70" "1" "94471031" "94471031" "subst" "2.43825E-5" "00000" "ABCA4_001620" "g.94471031C>T" "" "{PMID:Chen 2021:43360855}" "" "ABCA4 c.[1804C>T];[6113G>A], V2: c.6113G>A, (p.Arg2038Gln)" "alleles in trans; heterozygous" "Unknown" "?" "" "0" "" "" "g.94005475C>T" "" "likely pathogenic" "ACMG"
"0000829013" "0" "90" "1" "94471026" "94471026" "subst" "1.21925E-5" "00000" "ABCA4_000791" "g.94471026G>A" "" "{PMID:Chen 2021:43360855}" "" "ABCA4 c.5761G>A(;)6118C>T, V2: c.6118C>T, (p.Arg2040Ter)" "alleles in cis or trans; heterozygous" "Unknown" "?" "" "0" "" "" "g.94005470G>A" "" "pathogenic" "ACMG"
"0000829014" "0" "70" "1" "94467506" "94467506" "subst" "3.24913E-5" "00000" "ABCA4_000785" "g.94467506C>T" "" "{PMID:Chen 2021:43360855}" "" "ABCA4 c.3287C>T(;)6190G>A, V2: c.6190G>A, (p.Ala2064Thr)" "alleles in cis or trans; heterozygous" "Unknown" "?" "" "0" "" "" "g.94001950C>T" "" "likely pathogenic" "ACMG"
"0000829015" "0" "50" "1" "94463648" "94463648" "subst" "0.000162447" "00000" "ABCA4_001373" "g.94463648G>C" "" "{PMID:Chen 2021:43360855}" "" "ABCA4 c.2827C>T(;)6498C>G, V2: c.6498C>G, (p.Ile2166Met)" "alleles in cis or trans; heterozygous" "Unknown" "?" "" "0" "" "" "g.93998092G>C" "" "VUS" "ACMG"
"0000829016" "2" "70" "1" "94463424" "94463424" "subst" "0" "00000" "ABCA4_001562" "g.94463424A>G" "" "{PMID:Chen 2021:43360855}" "" "ABCA4 c.[1804C>T];[6722T>C], V2: c.6722T>C, (p.Leu2241Pro)" "alleles in trans; heterozygous" "Unknown" "?" "" "0" "" "" "g.93997868A>G" "" "likely pathogenic" "ACMG"
"0000829021" "0" "70" "1" "94578618" "94578618" "subst" "0.000166918" "00000" "ABCA4_000252" "g.94578618C>T" "" "{PMID:Chen 2021:43360855}" "" "ABCA4 c.71G>A(;)1804C>T, V2: c.71G>A, (p.Arg24His)" "alleles in cis or trans; heterozygous" "Unknown" "?" "" "0" "" "" "g.94113062C>T" "" "likely pathogenic" "ACMG"
"0000829034" "0" "90" "1" "94548906" "94548906" "subst" "0" "00000" "ABCA4_000358" "g.94548906A>T" "" "{PMID:Chen 2021:43360855}" "" "ABCA4 c.858+2T>A(;)2894A>G, V2: c.858+2T>A," "alleles in cis or trans; heterozygous" "Unknown" "?" "" "0" "" "" "g.94083350A>T" "" "pathogenic" "ACMG"
"0000829700" "1" "90" "1" "94526212" "94526212" "subst" "1.22012E-5" "00006" "ABCA4_000075" "g.94526212G>A" "" "{PMID:Ellingford 2016:26872967}" "" "" "" "Germline" "" "" "0" "" "" "g.94060656G>A" "" "pathogenic" ""
"0000829701" "1" "90" "1" "94490567" "94490567" "subst" "5.68528E-5" "00006" "ABCA4_000026" "g.94490567G>A" "" "{PMID:Ellingford 2016:26872967}" "" "" "" "Germline" "" "" "0" "" "" "g.94025011G>A" "" "pathogenic" ""
"0000829702" "1" "90" "1" "94544167" "94544167" "subst" "8.12269E-6" "00006" "ABCA4_000316" "g.94544167G>C" "" "{PMID:Ellingford 2016:26872967}" "" "" "" "Germline" "" "" "0" "" "" "g.94078611G>C" "" "pathogenic" ""
"0000829707" "1" "90" "1" "94495009" "94495009" "dup" "0" "00006" "ABCA4_000087" "g.94495009dup" "" "{PMID:Ellingford 2016:26872967}" "" "c.4537dupC" "" "Germline" "" "" "0" "" "" "g.94029453dup" "" "pathogenic" ""
"0000829712" "3" "70" "1" "94514455" "94514455" "del" "0" "00006" "ABCA4_000699" "g.94514455del" "" "{PMID:Ellingford 2016:26872967}" "" "c.2713delG" "" "Germline" "" "" "0" "" "" "g.94048899del" "" "likely pathogenic" ""
"0000829716" "1" "90" "1" "94486896" "94486896" "subst" "3.65562E-5" "00006" "ABCA4_000085" "g.94486896G>A" "" "{PMID:Ellingford 2016:26872967}" "" "" "" "Germline" "" "" "0" "" "" "g.94021340G>A" "" "pathogenic" ""
"0000829720" "1" "90" "1" "94496583" "94496583" "subst" "2.03092E-5" "00006" "ABCA4_000190" "g.94496583A>G" "" "{PMID:Ellingford 2016:26872967}" "" "" "" "Germline" "" "" "0" "" "" "g.94031027A>G" "" "pathogenic" ""
"0000829721" "2" "90" "1" "94476951" "94476951" "subst" "0.000236097" "00006" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Ellingford 2016:26872967}" "" "" "" "Germline" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic" ""
"0000829722" "2" "90" "1" "94476351" "94476351" "subst" "0.000296608" "00006" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Ellingford 2016:26872967}" "" "" "" "Germline" "" "" "0" "" "" "g.94010795C>T" "" "pathogenic" ""
"0000829723" "2" "90" "1" "94476951" "94476951" "subst" "0.000236097" "00006" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Ellingford 2016:26872967}" "" "" "" "Germline" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic" ""
"0000829728" "2" "90" "1" "94476351" "94476351" "subst" "0.000296608" "00006" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Ellingford 2016:26872967}" "" "" "" "Germline" "" "" "0" "" "" "g.94010795C>T" "" "pathogenic" ""
"0000829732" "2" "90" "1" "94495071" "94495071" "subst" "6.39479E-5" "00006" "ABCA4_000997" "g.94495071C>T" "" "{PMID:Ellingford 2016:26872967}" "" "" "" "Germline" "" "" "0" "" "" "g.94029515C>T" "" "pathogenic" ""
"0000829785" "0" "70" "1" "94564383" "94564383" "subst" "0" "00000" "ABCA4_000371" "g.94564383A>C" "" "{PMID:Dockery 2017:29099798}" "" "ABCA4 c.735T>G, p.Tyr245 *" "only novel variants described in detail in the paper; original cohort contained over 750 patients from over 520 pedigrees," "Germline" "yes" "" "0" "" "" "g.94098827A>C" "" "likely pathogenic" ""
"0000829786" "0" "70" "1" "94496018" "94496018" "del" "0" "00000" "ABCA4_000551" "g.94496018del" "" "{PMID:Dockery 2017:29099798}" "" "ABCA4 c.4320delT, p.Phe1440fs" "only novel variants described in detail in the paper; original cohort contained over 750 patients from over 520 pedigrees," "Germline" "yes" "" "0" "" "" "g.94030462del" "" "likely pathogenic" ""
"0000829789" "0" "70" "1" "94473278" "94473278" "del" "3.25908E-5" "00000" "ABCA4_000392" "g.94473278del" "" "{PMID:Dockery 2017:29099798}" "" "ABCA4 c.5917delG, p.Val1973fs" "error in annotation, protein change is immediate stop and not frameshift; only novel variants described in detail in the paper; original cohort contained over 750 patients from over 520 pedigrees," "Germline" "yes" "" "0" "" "" "g.94007722del" "" "likely pathogenic" ""
"0000829806" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Dockery 2017:29099798}" "" "ABCA4 c.5603A>T, p.Asn1868Ile" "only novel variants described in detail in the paper; original cohort contained over 750 patients from over 520 pedigrees, no c.DNA annotation in paper for this variant, c. extrapolated from protein; missense mutations had to show segregation in pedigrees of at least 3 members, two of whom had to be affected." "Germline" "yes" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic" ""
"0000829807" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Dockery 2017:29099798}" "" "ABCA4 c.5603A>T, p.Asn1868Ile" "only novel variants described in detail in the paper; original cohort contained over 750 patients from over 520 pedigrees, no c.DNA annotation in paper for this variant, c. extrapolated from protein; missense mutations had to show segregation in pedigrees of at least 3 members, two of whom had to be affected." "Germline" "yes" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic" ""
"0000829809" "0" "70" "1" "94546265" "94546265" "subst" "2.04063E-5" "00000" "ABCA4_000355" "g.94546265G>A" "" "{PMID:Dockery 2017:29099798}" "" "ABCA4 c.868C>T, p.Arg290Trp" "only novel variants described in detail in the paper; original cohort contained over 750 patients from over 520 pedigrees, no c.DNA annotation in paper for this variant, c. extrapolated from protein; missense mutations had to show segregation in pedigrees of at least 3 members, two of whom had to be affected." "Germline" "yes" "" "0" "" "" "g.94080709G>A" "" "likely pathogenic" ""
"0000834209" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "00000" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Fujinami 2013:24265018}" "" "c.5461-10T>C, uncertain effect" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000834210" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Fujinami 2013:24265018}" "" "c.5882G>A, p.Gly1961Glu" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000834211" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "00000" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Fujinami 2013:24265018}" "" "c.6079C>T, p.Leu2027Phe" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000834212" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "00000" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Fujinami 2013:24265018}" "" "c.3322C>T, p.Arg1108Cys" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000834213" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "00000" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Fujinami 2013:24265018}" "" "c.6079C>T, p.Leu2027Phe" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000834214" "0" "70" "1" "94486888" "94486888" "subst" "3.65548E-5" "00000" "ABCA4_000137" "g.94486888G>C" "" "{PMID:Fujinami 2013:24265018}" "" "c.4926C>G, p.Ser1642Arg" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000834215" "0" "70" "1" "94506923" "94506923" "subst" "2.43657E-5" "00000" "ABCA4_000012" "g.94506923C>T" "" "{PMID:Fujinami 2013:24265018}" "" "c.3364G>A, p.Glu1122Lys" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000834216" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Fujinami 2013:24265018}" "" "c.5882G>A, p.Gly1961Glu" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000834217" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Fujinami 2013:24265018}" "" "c.5882G>A, p.Gly1961Glu" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000834218" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "00000" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Fujinami 2013:24265018}" "" "c.4139C>T, p.Pro1380Leu" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000834219" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "00000" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Fujinami 2013:24265018}" "" "c.5461-10T>C, uncertain effect" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000834220" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "00000" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Fujinami 2013:24265018}" "" "c.6079C>T, p.Leu2027Phe" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000834221" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "00000" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Fujinami 2013:24265018}" "" "c.2588 G>C, p.Gly863Ala" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000834222" "0" "90" "1" "94578596" "94578596" "subst" "4.06478E-6" "00000" "ABCA4_000250" "g.94578596C>T" "" "{PMID:Fujinami 2013:24265018}" "" "c.93G>A, p.Tyr31*" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000834223" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Fujinami 2013:24265018}" "" "c.5882G>A, p.Gly1961Glu" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000834224" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "00000" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Fujinami 2013:24265018}" "" "c.6079C>T, p.Leu2027Phe" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000834225" "0" "70" "1" "94564484" "94564484" "subst" "0.000110199" "00000" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Fujinami 2013:24265018}" "" "c.634C>T, p.Arg212Cys" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000834226" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "00000" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Fujinami 2013:24265018}" "" "c.4139C>T, p.Pro1380Leu" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000834227" "0" "90" "1" "94508386" "94508386" "subst" "1.62443E-5" "00000" "ABCA4_000642" "g.94508386C>T" "" "{PMID:Fujinami 2013:24265018}" "" "c.3259G>A, p.Glu1087Lys" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000834228" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Fujinami 2013:24265018}" "" "c.5882G>A, p.Gly1961Glu" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000834229" "0" "70" "1" "94510253" "94510253" "subst" "0.000247694" "00000" "ABCA4_000108" "g.94510253A>G" "" "{PMID:Fujinami 2013:24265018}" "" "c.2966T>C, p.Val989Ala" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000834230" "0" "90" "1" "94466658" "94466658" "subst" "8.14817E-6" "00000" "ABCA4_000132" "g.94466658C>T" "" "{PMID:Fujinami 2013:24265018}" "" "c.6286G>A, p.Glu2096Lys" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000834231" "0" "70" "1" "94490567" "94490567" "subst" "5.68528E-5" "00000" "ABCA4_000026" "g.94490567G>A" "" "{PMID:Fujinami 2013:24265018}" "" "c.4577C>T, p.Thr1526Met" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000834232" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "00000" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Fujinami 2013:24265018}" "" "c.4139C>T, p.Pro1380Leu" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000834233" "0" "70" "1" "94490567" "94490567" "subst" "5.68528E-5" "00000" "ABCA4_000026" "g.94490567G>A" "" "{PMID:Fujinami 2013:24265018}" "" "c.4577C>T, p.Thr1526Met" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000834234" "0" "90" "1" "94526296" "94526296" "subst" "1.64555E-5" "00000" "ABCA4_000768" "g.94526296G>A" "" "{PMID:Fujinami 2013:24265018}" "" "c.1957C>T, p.Arg653Cys" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000834235" "0" "70" "1" "94466624" "94466624" "subst" "0.0014345" "00000" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Fujinami 2013:24265018}" "" "c.6320G>A, p.Arg2107His" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000834236" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "00000" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Fujinami 2013:24265018}" "" "c.768G>T, Splice site" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000834237" "0" "70" "1" "94508322" "94508322" "subst" "1.62513E-5" "00000" "ABCA4_000128" "g.94508322C>T" "" "{PMID:Fujinami 2013:24265018}" "" "c.3323G>A, p.Arg1108His" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
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"0000834240" "0" "90" "1" "94564500" "94564501" "del" "0" "00000" "ABCA4_000382" "g.94564500_94564501del" "" "{PMID:Fujinami 2013:24265018}" "" "c.617_618delCG, p.Ser206Arg fs*320" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000834241" "0" "70" "1" "94578618" "94578618" "subst" "0.000166918" "00000" "ABCA4_000252" "g.94578618C>T" "" "{PMID:Fujinami 2013:24265018}" "" "c.71G>A, p.Arg24His" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000834242" "0" "90" "1" "94463488" "94463488" "subst" "5.2803E-5" "00000" "ABCA4_000802" "g.94463488G>A" "" "{PMID:Fujinami 2013:24265018}" "" "c.6658C>T, p.Gln2220*" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000834243" "0" "90" "1" "94508434" "94508435" "dup" "0" "00000" "ABCA4_000998" "g.94508434_94508435dup" "" "{PMID:Fujinami 2013:24265018}" "" "c.3211_3212insGT, p.Ser1071Cys fs*1084" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000834244" "0" "70" "1" "94490567" "94490567" "subst" "5.68528E-5" "00000" "ABCA4_000026" "g.94490567G>A" "" "{PMID:Fujinami 2013:24265018}" "" "c.4577C>T, p.Thr1526Met" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000834245" "0" "70" "1" "94577073" "94577073" "subst" "0" "00000" "ABCA4_002357" "g.94577073A>G" "" "{PMID:Fujinami 2013:24265018}" "" "c.223T>C, p.Cys75Gly" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000834246" "3" "90" "1" "94476951" "94476951" "subst" "0.000236097" "00000" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Sangermano 2016:26976702}" "" "c.5461-10T>C" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
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"0000834254" "3" "90" "1" "94476951" "94476951" "subst" "0.000236097" "00000" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Sangermano 2016:26976702}" "" "c.5461-10T>C" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000834255" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "00000" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Sangermano 2016:26976702}" "" "c.768G>T p.?" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000834256" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "00000" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Sangermano 2016:26976702}" "" "c.5461-10T>C" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000834257" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "00000" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Sangermano 2016:26976702}" "" "c.2588G>C p.(Gly863Ala)/p.(Gly863del)" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000834258" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "00000" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Sangermano 2016:26976702}" "" "c.5461-10T>C" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000834259" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sangermano 2016:26976702}" "" "c.5882G>A p.(Gly1961Glu)" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000834260" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "00000" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Sangermano 2016:26976702}" "" "c.5461-10T>C" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000834261" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "00000" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Sangermano 2016:26976702}" "" "c.2588G>C p.(Gly863Ala)/p.(Gly863del)" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000834262" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "00000" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Sangermano 2016:26976702}" "" "c.5461-10T>C" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000834263" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "00000" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Sangermano 2016:26976702}" "" "c.[1622T>C;c.2870A>G]" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000834264" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "00000" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Sangermano 2016:26976702}" "" "c.[1622T>C;c.2870A>G]" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000834265" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "00000" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Sangermano 2016:26976702}" "" "c.5461-10T>C" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000834266" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "00000" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Sangermano 2016:26976702}" "" "c.768G>T p.?" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000834267" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "00000" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Sangermano 2016:26976702}" "" "c.5461-10T>C" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000834268" "0" "70" "1" "94502811" "94502811" "subst" "0" "00000" "ABCA4_001877" "g.94502811T>C" "" "{PMID:Sangermano 2016:26976702}" "" "c.3703A>G p.(Asn1235Asp)" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000834269" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "00000" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Sangermano 2016:26976702}" "" "c.5461-10T>C" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000834270" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "00000" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Sangermano 2016:26976702}" "" "c.[1622T>C;c.2870A>G]" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000834271" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "00000" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Sangermano 2016:26976702}" "" "c.[1622T>C;c.2870A>G]" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000834272" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "00000" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Sangermano 2016:26976702}" "" "c.5461-10T>C" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000834273" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "00000" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Sangermano 2016:26976702}" "" "c.768G>T p.?" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000834274" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "00000" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Sangermano 2016:26976702}" "" "c.5461-10T>C" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000834275" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "00000" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Sangermano 2016:26976702}" "" "c.768G>T p.?" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000834276" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "00000" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Sangermano 2016:26976702}" "" "c.5461-10T>C" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000834277" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "00000" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Sangermano 2016:26976702}" "" "c.768G>T p.?" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000834278" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "00000" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Sangermano 2016:26976702}" "" "c.5461-10T>C" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000834279" "0" "70" "1" "94528248" "94528248" "subst" "1.22148E-5" "00000" "ABCA4_000279" "g.94528248A>T" "" "{PMID:Sangermano 2016:26976702}" "" "c.1822T>A" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000834280" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Margalit 2003:14609928}" "" "N1868I" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000834281" "0" "30" "1" "94496602" "94496602" "subst" "0.0234538" "00000" "ABCA4_000913" "g.94496602G>T" "" "{PMID:Margalit 2003:14609928}" "" "P1401P" "" "Unknown" "?" "" "0" "" "" "" "" "likely benign" ""
"0000834282" "0" "90" "1" "94485137" "94485137" "subst" "0" "00000" "ABCA4_000465" "g.94485137C>A" "" "{PMID:Bax 2019:31398255}" "" "c.5196+1G>T p.(?)" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000834283" "0" "70" "1" "94502780" "94502780" "subst" "4.06336E-6" "00000" "ABCA4_000969" "g.94502780C>T" "" "{PMID:Bax 2019:31398255}" "" "c.3734G>A p.(Ser1245Asn)" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000834284" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "00000" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Bax 2019:31398255}" "" "c.5461-10T>C p.[Thr1821Valfs*13,Thr1821Aspfs*6]" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000834285" "0" "90" "1" "94495034" "94495034" "subst" "5.28994E-6" "00000" "ABCA4_000539" "g.94495034G>T" "" "{PMID:Bax 2019:31398255}" "" "c.4506C>A p.(Cys1502*)" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000834286" "0" "90" "1" "94497588" "94497588" "subst" "4.153E-6" "00000" "ABCA4_000049" "g.94497588G>A" "" "{PMID:Bax 2019:31398255}" "" "c.3874C>T p.(Gln1292*)" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000834287" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "00000" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Bax 2019:31398255}" "" "c.3113C>T p.(Ala1038Val)" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000834288" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "00000" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Bax 2019:31398255}" "" "c.546110T>C p.[Thr1821Valfs*13,Thr1821Aspfs*6]" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000834289" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "00000" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Bax 2019:31398255}" "" "c.546110T>C p.[Thr1821Valfs*13,Thr1821Aspfs*6]" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000834290" "0" "90" "1" "94497588" "94497588" "subst" "4.153E-6" "00000" "ABCA4_000049" "g.94497588G>A" "" "{PMID:Bax 2019:31398255}" "" "c.3874C>T p.(Gln1292*)" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000834291" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Bax 2019:31398255}" "" "c.5603A>T p.(Asn1868Ile)" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000834292" "0" "90" "1" "94497588" "94497588" "subst" "4.153E-6" "00000" "ABCA4_000049" "g.94497588G>A" "" "{PMID:Bax 2019:31398255}" "" "c.3874C>T p.(Gln1292*)" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000834293" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "00000" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Bax 2019:31398255}" "" "c.546110T>C p.[Thr1821Valfs*13,Thr1821Aspfs*6]" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000834294" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "00000" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Bax 2019:31398255}" "" "c.546110T>C p.[Thr1821Valfs*13,Thr1821Aspfs*6]" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000834295" "0" "70" "1" "94495177" "94495177" "subst" "1.22342E-5" "00000" "ABCA4_000023" "g.94495177A>G" "" "{PMID:Bax 2019:31398255}" "" "c.4363T>C p.(Cys1455Arg)" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000834296" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Bax 2019:31398255}" "" "c.5603A>T p.(Asn1868Ile)" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000834297" "0" "70" "1" "94528248" "94528248" "subst" "0" "00000" "ABCA4_000280" "g.94528248A>G" "" "{PMID:Bax 2019:31398255}" "" "c.1822T>C p.(Phe608Leu)" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000834298" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "00000" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Bax 2019:31398255}" "" "c.768G>T p.(Leu257Valfs*17)" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000834299" "0" "90" "1" "94474329" "94474329" "subst" "0" "00000" "ABCA4_000960" "g.94474329A>C" "" "{PMID:Bax 2019:31398255}" "" "c.5813T>G p.(Leu1938*)" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000834300" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "00000" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Bax 2019:31398255}" "" "c.2588G>C p.[Gly863Ala,Gly863del]" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000834301" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "00000" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Bax 2019:31398255}" "" "c.768G>T p.(Leu257Valfs*17)" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000834302" "0" "90" "1" "94487401" "94487401" "subst" "4.06085E-6" "00000" "ABCA4_000995" "g.94487401C>T" "" "{PMID:Bax 2019:31398255}" "" "c.47731G>A p.(?)" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000834303" "0" "70" "1" "94528248" "94528248" "subst" "1.22148E-5" "00000" "ABCA4_000279" "g.94528248A>T" "" "{PMID:Bax 2019:31398255}" "" "c.1822T>A p.(Phe608Ile)" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000834304" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "00000" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Bax 2019:31398255}" "" "c.768G>T p.(Leu257Valfs*17)" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000834305" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "00000" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Bax 2019:31398255}" "" "c.3113C>T p.(Ala1038Val)" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000834306" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "00000" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Bax 2019:31398255}" "" "c.768G>T p.(Leu257Valfs*17)" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000834307" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Bax 2019:31398255}" "" "c.5603A>T p.(Asn1868Ile)" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000834308" "1" "70" "1" "94461735" "94461735" "subst" "0" "00000" "ABCA4_001414" "g.94461735G>T" "" "{PMID:Müller 2020:33214501}" "" "c.6746C>A/p.(Ala2249Asp)" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000834309" "2" "70" "1" "94461735" "94461735" "subst" "0" "00000" "ABCA4_001414" "g.94461735G>T" "" "{PMID:Müller 2020:33214501}" "" "c.6746C>A/p.(Ala2249Asp)" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000834310" "1" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "00000" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Müller 2020:33214501}" "" "c.768G>T/p.(Val256Val)" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000834311" "2" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Müller 2020:33214501}" "" "c.5603A>T/p.(Asn1868Ile)" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000834312" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "00000" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Müller 2020:33214501}" "" "c.1622T>C/p.(Leu541Pro) //c.3113C>T/p.(Ala1038Val)" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000834313" "1" "70" "1" "94508969" "94508969" "subst" "0.00168642" "00000" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Müller 2020:33214501}" "" "c.1622T>C/p.(Leu541Pro) //c.3113C>T/p.(Ala1038Val)" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000834314" "2" "70" "1" "94528179" "94528179" "subst" "0" "00000" "ABCA4_001433" "g.94528179C>T" "" "{PMID:Müller 2020:33214501}" "" "c.1891G>A/p.(Gly631Arg)" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000834315" "1" "90" "1" "94526296" "94526296" "subst" "1.64555E-5" "00000" "ABCA4_000768" "g.94526296G>A" "" "{PMID:Müller 2020:33214501}" "" "c.1957C>T/p.(Arg653Cys)" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000834316" "1" "50" "1" "94543389" "94543389" "subst" "0.000861235" "00000" "ABCA4_000312" "g.94543389C>T" "" "{PMID:Müller 2020:33214501}" "" "c.1411G>A/p.(Glu471Lys)" "" "Unknown" "?" "" "0" "" "" "" "" "VUS" ""
"0000834317" "2" "90" "1" "94528167" "94528167" "subst" "0" "00000" "ABCA4_000268" "g.94528167G>A" "" "{PMID:Müller 2020:33214501}" "" "c.1903C>T/p.(Gln635*)" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000834318" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "00000" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Müller 2020:33214501}" "" "c.1622T>C/p.(Leu541Pro) //c.3113C>T/p.(Ala1038Val)" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000834319" "1" "70" "1" "94508969" "94508969" "subst" "0.00168642" "00000" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Müller 2020:33214501}" "" "c.1622T>C/p.(Leu541Pro) //c.3113C>T/p.(Ala1038Val)" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000834320" "2" "70" "1" "94471055" "94471055" "subst" "0.00035346" "00000" "ABCA4_000029" "g.94471055C>T" "" "{PMID:Müller 2020:33214501}" "" "c.6089G>A/p.(Arg2030Gln)" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000834321" "1" "90" "1" "94476351" "94476351" "subst" "0.000296608" "00000" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Müller 2020:33214501}" "" "c.5714+5G>A" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000834322" "2" "90" "1" "94508384" "94508384" "subst" "0" "00000" "ABCA4_000641" "g.94508384T>G" "" "{PMID:Müller 2020:33214501}" "" "c.3261A>C/p.(Glu1087Asp)" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000834323" "1" "90" "1" "94476351" "94476351" "subst" "0.000296608" "00000" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Müller 2020:33214501}" "" "c.5714+5G>A" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000834324" "2" "90" "1" "94508384" "94508384" "subst" "0" "00000" "ABCA4_000641" "g.94508384T>G" "" "{PMID:Müller 2020:33214501}" "" "c.3261A>C/p.(Glu1087Asp)" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000834325" "1" "70" "1" "94517254" "94517254" "subst" "0.00442654" "00000" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Müller 2020:33214501}" "" "c.2588G>C/p.(Gly863Ala) //c.5603A>T/p.(Asn1868Ile)" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000834326" "3" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Müller 2020:33214501}" "" "c.2588G>C/p.(Gly863Ala) //c.5603A>T/p.(Asn1868Ile)" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000834327" "3" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Müller 2020:33214501}" "" "c.5461-10T>C //c.5603A>T/p.(Asn1868Ile)" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000834328" "2" "90" "1" "94476951" "94476951" "subst" "0.000236097" "00000" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Müller 2020:33214501}" "" "c.5461-10T>C //c.5603A>T/p.(Asn1868Ile)" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000834329" "1" "70" "1" "94528709" "94528709" "subst" "0" "00000" "ABCA4_001049" "g.94528709C>T" "" "{PMID:Müller 2020:33214501}" "" "c.1719G>A/p.(Met573Ile)" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000834330" "1" "70" "1" "94496610" "94496610" "subst" "2.03128E-5" "00000" "ABCA4_000571" "g.94496610C>T" "" "{PMID:Müller 2020:33214501}" "" "c.3195G>A/p.(Glu1399Lys)" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000834331" "2" "70" "1" "94473266" "94473266" "subst" "8.14677E-6" "00000" "ABCA4_000389" "g.94473266C>T" "" "{PMID:Müller 2020:33214501}" "" "c.5929G>A/p.(Gly1977Ser )//c.6079C>T/p.(Leu2027Phe)" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000834332" "2" "70" "1" "94471065" "94471065" "subst" "0.000194997" "00000" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Müller 2020:33214501}" "" "c.5929G>A/p.(Gly1977Ser )//c.6079C>T/p.(Leu2027Phe)" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000834333" "1" "90" "1" "94485145" "94485145" "subst" "0" "00000" "ABCA4_001015" "g.94485145C>T" "" "{PMID:Müller 2020:33214501}" "" "c.5189G>A/p.(Trp1730*)" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000834334" "2" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Müller 2020:33214501}" "" "c.5603A>T/p.(Asn1868Ile)" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000834335" "1" "90" "1" "94466663" "94466663" "subst" "0" "00000" "ABCA4_001588" "g.94466663T>C" "" "{PMID:Müller 2020:33214501}" "" "c.6283-2A>G" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000834336" "2" "70" "1" "94466664" "94466664" "subst" "0" "00000" "ABCA4_001590" "g.94466664G>T" "" "{PMID:Müller 2020:33214501}" "" "c.6283-3C>A" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000834337" "1" "70" "1" "94495078" "94495078" "subst" "8.37044E-6" "00000" "ABCA4_000042" "g.94495078A>G" "" "{PMID:Müller 2020:33214501}" "" "c.4462T>C/p.(Cys1488Arg)" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000834338" "1" "70" "1" "94546124" "94546124" "subst" "0" "00000" "ABCA4_000342" "g.94546124A>G" "" "{PMID:Müller 2020:33214501}" "" "c.1009T>C/p.(Phe337Leu) //c.1937+1G>A" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000834339" "1" "90" "1" "94528132" "94528132" "subst" "4.06835E-6" "00000" "ABCA4_000773" "g.94528132C>T" "" "{PMID:Müller 2020:33214501}" "" "c.1009T>C/p.(Phe337Leu) //c.1937+1G>A" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000834340" "2" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Müller 2020:33214501}" "" "c.5603A>T/p.(Asn1868Ile)" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000834341" "1" "70" "1" "94528248" "94528248" "subst" "1.22148E-5" "00000" "ABCA4_000279" "g.94528248A>T" "" "{PMID:Müller 2020:33214501}" "" "c.1822T>A/p.(Phe608Ile) //c.4773+48C>T //c.5682G>C/p.(Leu1894Leu)" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000834342" "2" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Müller 2020:33214501}" "" "c.5603A>T/p.(Asn1868Ile)" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000834343" "1" "90" "1" "94517254" "94517254" "subst" "0.00442654" "00000" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Müller 2020:33214501}" "" "c.2588G>C/p.(Gly863Ala) //c.5603A>T/p.(Asn1868Ile)" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000834344" "1" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Müller 2020:33214501}" "" "c.2588G>C/p.(Gly863Ala) //c.5603A>T/p.(Asn1868Ile)" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000834345" "2" "70" "1" "94528806" "94528806" "subst" "0.000150298" "00000" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Müller 2020:33214501}" "" "c.1622T>C/p.(Leu541Pro) //c.3113C>T/p.(Ala1038Val)" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000834346" "2" "70" "1" "94508969" "94508969" "subst" "0.00168642" "00000" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Müller 2020:33214501}" "" "c.1622T>C/p.(Leu541Pro) //c.3113C>T/p.(Ala1038Val)" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000834347" "1" "90" "1" "94528844" "94528844" "subst" "0" "00000" "ABCA4_001435" "g.94528844G>T" "" "{PMID:Müller 2020:33214501}" "" "c.1584C>A/p.(Tyr528*)" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000834348" "2" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Müller 2020:33214501}" "" "c.5882G>A/p.(Gly1961Glu)" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000834349" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "00000" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Müller 2020:33214501}" "" "c.1622T>C/p.(Leu541Pro) //c.3113C>T/p.(Ala1038Val)" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000834350" "1" "70" "1" "94508969" "94508969" "subst" "0.00168642" "00000" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Müller 2020:33214501}" "" "c.1622T>C/p.(Leu541Pro) //c.3113C>T/p.(Ala1038Val)" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000834351" "2" "90" "1" "94508433" "94508433" "subst" "8.12209E-6" "00000" "ABCA4_000151" "g.94508433G>A" "" "{PMID:Müller 2020:33214501}" "" "c.3212C>T/p.(Ser1071Leu)" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000834352" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "00000" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Müller 2020:33214501}" "" "c.1622T>C/p.(Leu541Pro) //c.3113C>T/p.(Ala1038Val)" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000834353" "1" "70" "1" "94508969" "94508969" "subst" "0.00168642" "00000" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Müller 2020:33214501}" "" "c.1622T>C/p.(Leu541Pro) //c.3113C>T/p.(Ala1038Val)" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000834354" "2" "90" "1" "94508433" "94508433" "subst" "8.12209E-6" "00000" "ABCA4_000151" "g.94508433G>A" "" "{PMID:Müller 2020:33214501}" "" "c.3212C>T/p.(Ser1071Leu)" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000834355" "1" "70" "1" "94486896" "94486896" "subst" "3.65562E-5" "00000" "ABCA4_000085" "g.94486896G>A" "" "{PMID:Müller 2020:33214501}" "" "c.4918C>T/p.(Arg1640Trp)" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000834356" "2" "70" "1" "94476377" "94476377" "subst" "0.00160473" "00000" "ABCA4_000411" "g.94476377C>T" "" "{PMID:Müller 2020:33214501}" "" "c.5693G>A/p.(Arg1898His)" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000834357" "1" "50" "1" "94528774" "94528774" "subst" "0.00264827" "00000" "ABCA4_000298" "g.94528774C>T" "" "{PMID:Müller 2020:33214501}" "" "c.1654G>A/p.(Val552Ile) //c.4771G>A/p.(Gly1591Arg)" "" "Unknown" "?" "" "0" "" "" "" "" "VUS" ""
"0000834358" "1" "50" "1" "94487404" "94487404" "subst" "0.00244055" "00000" "ABCA4_000497" "g.94487404C>T" "" "{PMID:Müller 2020:33214501}" "" "c.1654G>A/p.(Val552Ile) //c.4771G>A/p.(Gly1591Arg)" "" "Unknown" "?" "" "0" "" "" "" "" "VUS" ""
"0000834359" "2" "70" "1" "94528806" "94528806" "subst" "0.000150298" "00000" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Müller 2020:33214501}" "" "c.1622T>C/p.(Leu541Pro) //c.3113C>T/p.(Ala1038Val)" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000834360" "2" "70" "1" "94508969" "94508969" "subst" "0.00168642" "00000" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Müller 2020:33214501}" "" "c.1622T>C/p.(Leu541Pro) //c.3113C>T/p.(Ala1038Val)" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000834361" "1" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "00000" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Müller 2020:33214501}" "" "c.1804C>T/p.(Arg602Trp)" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000834362" "2" "50" "1" "94528142" "94528142" "subst" "0.00153303" "00000" "ABCA4_000125" "g.94528142A>C" "" "{PMID:Müller 2020:33214501}" "" "c.1928T>G/p.(Val643Gly)" "" "Unknown" "?" "" "0" "" "" "" "" "VUS" ""
"0000834363" "1" "70" "1" "94471055" "94471055" "subst" "0.00035346" "00000" "ABCA4_000029" "g.94471055C>T" "" "{PMID:Müller 2020:33214501}" "" "c.6089G>A/p.(Arg2030Gln)" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000834364" "2" "70" "1" "94463566" "94463601" "del" "0" "00000" "ABCA4_000805" "g.94463566_94463601del" "" "{PMID:Müller 2020:33214501}" "" "c.6545_6580del36bp/ p.(Leu2184_Phe2193del)" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000834365" "1" "90" "1" "94497591" "94497591" "subst" "0" "00000" "ABCA4_000587" "g.94497591G>A" "" "{PMID:Müller 2020:33214501}" "" "c.3871C>T/p.(Gln1291*)" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000834366" "2" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Müller 2020:33214501}" "" "c.5882G>A/p.(Gly1961Glu)" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000834367" "1" "90" "1" "94476351" "94476351" "subst" "0.000296608" "00000" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Müller 2020:33214501}" "" "c.5714+5G>A" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000834368" "2" "90" "1" "94473278" "94473278" "del" "3.25908E-5" "00000" "ABCA4_000392" "g.94473278del" "" "{PMID:Müller 2020:33214501}" "" "c.5917delG/p.(Val1973*)" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000834369" "1" "90" "1" "94496571" "94496571" "subst" "4.06174E-6" "00000" "ABCA4_000111" "g.94496571G>A" "" "{PMID:Müller 2020:33214501}" "" "c.4234C>T/p.(Gln1412*)" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000834370" "2" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Müller 2020:33214501}" "" "c.5603A>T/p.(Asn1868Ile) //c.5682G>C/p.(Leu1894Leu) //c.4773+48C>T" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000834371" "1" "70" "1" "94476890" "94476890" "subst" "4.06227E-6" "00000" "ABCA4_000434" "g.94476890G>C" "" "{PMID:Müller 2020:33214501}" "" "c.5512C>G/p.(His1838Asp) //c.5882GT" "" "{PMID:Müller 2020:33214501}" "" "c.5882GG" "" "{PMID:Müller 2020:33214501}" "" "c.1897T>C/p.(Tyr603His)" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000834374" "2" "70" "1" "94495078" "94495078" "subst" "8.37044E-6" "00000" "ABCA4_000042" "g.94495078A>G" "" "{PMID:Müller 2020:33214501}" "" "c.4462T>C/p.(Cys1488Arg)" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000834375" "1" "70" "1" "94564484" "94564484" "subst" "0.000110199" "00000" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Müller 2020:33214501}" "" "c.634C>T/p.(Arg212Cys)" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000834376" "2" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Müller 2020:33214501}" "" "c.5882GT" "" "{PMID:Müller 2020:33214501}" "" "c.214G>A/p.(Gly72Arg)" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000834378" "2" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Müller 2020:33214501}" "" "c.5603A>T/p.(Asn1868Ile)" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000834379" "1" "70" "1" "94586550" "94586550" "subst" "1.21864E-5" "00000" "ABCA4_000037" "g.94586550G>A" "" "{PMID:Müller 2020:33214501}" "" "c.52C>T/p.(Arg18Trp) //c.1715G>A/p.(Arg572Gln) //c.2828G>A/p.(Arg943Gln)" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000834380" "1" "70" "1" "94528713" "94528713" "subst" "4.87381E-5" "00000" "ABCA4_000072" "g.94528713C>T" "" "{PMID:Müller 2020:33214501}" "" "c.52C>T/p.(Arg18Trp) //c.1715G>A/p.(Arg572Gln) //c.2828G>A/p.(Arg943Gln)" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000834381" "2" "70" "1" "94528840" "94528840" "subst" "0" "00000" "ABCA4_002104" "g.94528840C>T" "" "{PMID:Müller 2020:33214501}" "" "c.1588G>A/p.(Gly863Ala) //c.5603A>T/p.(Asn1868Ile)" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000834382" "2" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Müller 2020:33214501}" "" "c.1588G>A/p.(Gly863Ala) //c.5603A>T/p.(Asn1868Ile)" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000834383" "1" "90" "1" "94506819" "94506819" "subst" "0" "00000" "ABCA4_001426" "g.94506819G>C" "" "{PMID:Müller 2020:33214501}" "" "c.3468C>G/p.(Tyr1156*)" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000834384" "2" "70" "1" "94485275" "94485275" "subst" "4.09068E-5" "00000" "ABCA4_001089" "g.94485275T>A" "" "{PMID:Müller 2020:33214501}" "" "c.5059A>T/p.(Ile1687Phe) //c.4297G>A/p.(Val1433Ile)" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000834385" "1" "90" "1" "94506819" "94506819" "subst" "0" "00000" "ABCA4_001426" "g.94506819G>C" "" "{PMID:Müller 2020:33214501}" "" "c.3468C>G/p.(Tyr1156*)" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000834386" "2" "70" "1" "94485275" "94485275" "subst" "4.09068E-5" "00000" "ABCA4_001089" "g.94485275T>A" "" "{PMID:Müller 2020:33214501}" "" "c.5059A>T/p.(Ile1687Phe)" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000834387" "1" "90" "1" "94586557" "94586557" "subst" "4.06134E-6" "00000" "ABCA4_000259" "g.94586557C>T" "" "{PMID:Müller 2020:33214501}" "" "c.45G>A/p.(Trp15*)" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000834388" "2" "70" "1" "94520853" "94520853" "subst" "8.14783E-6" "00000" "ABCA4_000729" "g.94520853C>T" "" "{PMID:Müller 2020:33214501}" "" "c.2401G>A/p.(Ala801Thr)" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000834389" "1" "70" "1" "94520853" "94520853" "subst" "8.14783E-6" "00000" "ABCA4_000729" "g.94520853C>T" "" "{PMID:Müller 2020:33214501}" "" "c.2401G>A/p.(Ala801Thr)" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000834390" "2" "90" "1" "94496571" "94496571" "subst" "4.06174E-6" "00000" "ABCA4_000111" "g.94496571G>A" "" "{PMID:Müller 2020:33214501}" "" "c.4234C>T/p.(Glu1412*)" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000834391" "1" "70" "1" "94496666" "94496666" "subst" "0.000219568" "00000" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Müller 2020:33214501}" "" "c.4139C>T/p.(Pro1380Leu)" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000834392" "2" "70" "1" "94496666" "94496666" "subst" "0.000219568" "00000" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Müller 2020:33214501}" "" "c.4139C>T/p.(Pro1380Leu)" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000834393" "1" "70" "1" "94495989" "94495989" "subst" "8.12229E-6" "00000" "ABCA4_001090" "g.94495989C>A" "" "{PMID:Müller 2020:33214501}" "" "c.4347G>T/p.(Trp1449Cys)" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000834394" "2" "90" "1" "94528132" "94528874" "del" "0" "00000" "ABCA4_002353" "g.(94526316_94528132)_(94528874_94543245)del" "" "{PMID:Müller 2020:33214501}" "" "Del E12-E13" "" "Unknown" "?" "" "0" "" "" "g.(94060760_94062576)_(94063318_94077689)del" "" "pathogenic (recessive)" ""
"0000834395" "0" "50" "1" "94512574" "94512574" "subst" "0.00025589" "00000" "ABCA4_000694" "g.94512574G>C" "" "{PMID:Souied 2000:10634626}" "" "Pro940Arg/Wt" "" "Unknown" "?" "" "0" "" "" "" "" "VUS" ""
"0000834396" "0" "50" "1" "94512574" "94512574" "subst" "0.00025589" "00000" "ABCA4_000694" "g.94512574G>C" "" "{PMID:Souied 2000:10634626}" "" "Pro940Arg/Wt" "" "Unknown" "?" "" "0" "" "" "" "" "VUS" ""
"0000834397" "0" "30" "1" "94473287" "94473287" "subst" "0.00293818" "00000" "ABCA4_000395" "g.94473287G>A" "" "{PMID:Souied 2000:10634626}" "" "Leu1970Phe/Wt" "" "Unknown" "?" "" "0" "" "" "" "" "likely benign" ""
"0000834398" "0" "30" "1" "94473287" "94473287" "subst" "0.00293818" "00000" "ABCA4_000395" "g.94473287G>A" "" "{PMID:Souied 2000:10634626}" "" "Leu1970Phe/Wt" "" "Unknown" "?" "" "0" "" "" "" "" "likely benign" ""
"0000834399" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Allikmets 2000:10880298}" "" "G1961E" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000834400" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Allikmets 2000:10880298}" "" "G1961E" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000834401" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Allikmets 2000:10880298}" "" "G1961E" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000834402" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Allikmets 2000:10880298}" "" "G1961E" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000834403" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Allikmets 2000:10880298}" "" "G1961E" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000834404" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Allikmets 2000:10880298}" "" "G1961E" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000834405" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Allikmets 2000:10880298}" "" "G1961E" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000834406" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Allikmets 2000:10880298}" "" "G1961E" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000834407" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Allikmets 2000:10880298}" "" "G1961E" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000834408" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Allikmets 2000:10880298}" "" "G1961E" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000834409" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Allikmets 2000:10880298}" "" "G1961E" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000834410" "0" "70" "1" "94463617" "94463617" "subst" "0.0109114" "00000" "ABCA4_000013" "g.94463617C>T" "" "{PMID:Allikmets 2000:10880298}" "" "D2177N" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000834411" "0" "70" "1" "94463617" "94463617" "subst" "0.0109114" "00000" "ABCA4_000013" "g.94463617C>T" "" "{PMID:Allikmets 2000:10880298}" "" "D2177N" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000834412" "0" "70" "1" "94463617" "94463617" "subst" "0.0109114" "00000" "ABCA4_000013" "g.94463617C>T" "" "{PMID:Allikmets 2000:10880298}" "" "D2177N" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000834413" "0" "70" "1" "94463617" "94463617" "subst" "0.0109114" "00000" "ABCA4_000013" "g.94463617C>T" "" "{PMID:Allikmets 2000:10880298}" "" "D2177N" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000834414" "0" "70" "1" "94463617" "94463617" "subst" "0.0109114" "00000" "ABCA4_000013" "g.94463617C>T" "" "{PMID:Allikmets 2000:10880298}" "" "D2177N" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000834415" "0" "70" "1" "94463617" "94463617" "subst" "0.0109114" "00000" "ABCA4_000013" "g.94463617C>T" "" "{PMID:Allikmets 2000:10880298}" "" "D2177N" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000834416" "0" "70" "1" "94463617" "94463617" "subst" "0.0109114" "00000" "ABCA4_000013" "g.94463617C>T" "" "{PMID:Allikmets 2000:10880298}" "" "D2177N" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000834417" "0" "70" "1" "94463617" "94463617" "subst" "0.0109114" "00000" "ABCA4_000013" "g.94463617C>T" "" "{PMID:Allikmets 2000:10880298}" "" "D2177N" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000834418" "0" "70" "1" "94463617" "94463617" "subst" "0.0109114" "00000" "ABCA4_000013" "g.94463617C>T" "" "{PMID:Allikmets 2000:10880298}" "" "D2177N" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000834419" "0" "70" "1" "94463617" "94463617" "subst" "0.0109114" "00000" "ABCA4_000013" "g.94463617C>T" "" "{PMID:Allikmets 2000:10880298}" "" "D2177N" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000834420" "0" "50" "1" "94496053" "94496053" "subst" "0.00437371" "00000" "ABCA4_000556" "g.94496053G>A" "" "{PMID:Fuse 2000:10913642}" "" "T1428M" "" "Unknown" "?" "" "0" "" "" "" "" "VUS" ""
"0000834421" "0" "30" "1" "94467447" "94467447" "subst" "0.0757472" "00000" "ABCA4_000954" "g.94467447G>A" "" "{PMID:Fuse 2000:10913642}" "" "I2083I" "" "Unknown" "?" "" "0" "" "" "" "" "likely benign" ""
"0000834422" "0" "30" "1" "94487354" "94487354" "subst" "0.584631" "00000" "ABCA4_000897" "g.94487354G>A" "" "{PMID:Fuse 2000:10913642}" "" "4773+48C>T" "" "Unknown" "?" "" "0" "" "" "" "" "likely benign" ""
"0000834423" "3" "30" "1" "94487354" "94487354" "subst" "0.584631" "00000" "ABCA4_000897" "g.94487354G>A" "" "{PMID:Fuse 2000:10913642}" "" "4773+48C>T" "" "Unknown" "?" "" "0" "" "" "" "" "likely benign" ""
"0000834424" "0" "50" "1" "94543389" "94543389" "subst" "0.000861235" "00000" "ABCA4_000312" "g.94543389C>T" "" "{PMID:Bernstein 2002:11818392}" "" "E471K" "" "Unknown" "?" "" "0" "" "" "" "" "VUS" ""
"0000834425" "0" "50" "1" "94512574" "94512574" "subst" "0.00025589" "00000" "ABCA4_000694" "g.94512574G>C" "" "{PMID:Bernstein 2002:11818392}" "" "P940R" "" "Unknown" "?" "" "0" "" "" "" "" "VUS" ""
"0000834426" "0" "50" "1" "94496053" "94496053" "subst" "0.00437371" "00000" "ABCA4_000556" "g.94496053G>A" "" "{PMID:Bernstein 2002:11818392}" "" "T1428M" "" "Unknown" "?" "" "0" "" "" "" "" "VUS" ""
"0000834427" "0" "70" "1" "94490595" "94490595" "subst" "4.06091E-6" "00000" "ABCA4_002348" "g.94490595G>T" "" "{PMID:Bernstein 2002:11818392}" "" "R1517S" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000834428" "0" "50" "1" "94487490" "94487490" "subst" "0.00122268" "00000" "ABCA4_000506" "g.94487490A>G" "" "{PMID:Bernstein 2002:11818392}" "" "I1562T" "" "Unknown" "?" "" "0" "" "" "" "" "VUS" ""
"0000834429" "0" "70" "1" "94487443" "94487443" "subst" "1.2183E-5" "00000" "ABCA4_002346" "g.94487443C>T" "" "{PMID:Bernstein 2002:11818392}" "" "G1578R" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000834430" "0" "90" "1" "94485137" "94485137" "subst" "0" "00000" "ABCA4_000464" "g.94485137C>T" "" "{PMID:Bernstein 2002:11818392}" "" "51961G3A" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000834431" "0" "70" "1" "94476377" "94476377" "subst" "0.00160473" "00000" "ABCA4_000411" "g.94476377C>T" "" "{PMID:Bernstein 2002:11818392}" "" "R1898H" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000834432" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Bernstein 2002:11818392}" "" "G1961E" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000834433" "0" "30" "1" "94473287" "94473287" "subst" "0.00293818" "00000" "ABCA4_000395" "g.94473287G>A" "" "{PMID:Bernstein 2002:11818392}" "" "L1970F" "" "Unknown" "?" "" "0" "" "" "" "" "likely benign" ""
"0000834434" "0" "90" "1" "94463617" "94463627" "del" "0" "00000" "ABCA4_000809" "g.94463617_94463627del" "" "{PMID:Bernstein 2002:11818392}" "" "6519del11bp" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000834435" "0" "10" "1" "94463617" "94463617" "subst" "0.0109114" "00000" "ABCA4_000013" "g.94463617C>T" "" "{PMID:Bernstein 2002:11818392}" "" "D2177N" "" "Unknown" "?" "" "0" "" "" "" "" "benign" ""
"0000834436" "0" "90" "1" "94463578" "94463578" "del" "0" "00000" "ABCA4_002344" "g.94463578del" "" "{PMID:Bernstein 2002:11818392}" "" "6568delC" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000834437" "0" "90" "1" "94486950" "94486955" "delins" "0" "00000" "ABCA4_000192" "g.94486950_94486955delinsAGGA" "" "{PMID:Fritsche 2012:22427542}" "" "c.4859_4864delATAACAinsTCCT (p.Asn1620fs)" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000834438" "0" "70" "1" "94508969" "94508969" "subst" "0.00168642" "00000" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Fritsche 2012:22427542}" "" "c.3113C>T (p.A1038V)" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000834439" "0" "90" "1" "94508384" "94508384" "subst" "0" "00000" "ABCA4_000641" "g.94508384T>G" "" "{PMID:Fritsche 2012:22427542}" "" "c.3261A>C (p.E1087D)t" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000834440" "0" "70" "1" "94508969" "94508969" "subst" "0.00168642" "00000" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Fritsche 2012:22427542}" "" "c.3113C>T (p.A1038V)" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000834441" "0" "90" "1" "94502762" "94502762" "del" "0" "00000" "ABCA4_002350" "g.94502762del" "" "{PMID:Fritsche 2012:22427542}" "" "c.3752delA (p.Glu1251fs)u" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000834442" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "00000" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Fritsche 2012:22427542}" "" "c.[1622T>C (p.L541P) +c.3113C>T (p.A1038V)]c" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000834443" "1" "70" "1" "94508969" "94508969" "subst" "0.00168642" "00000" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Fritsche 2012:22427542}" "" "c.[1622T>C (p.L541P) +c.3113C>T (p.A1038V)]c" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000834444" "0" "70" "1" "94495078" "94495078" "subst" "8.37044E-6" "00000" "ABCA4_000042" "g.94495078A>G" "" "{PMID:Fritsche 2012:22427542}" "" "c.4462T>C (p.C1488R)" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000834445" "0" "70" "1" "94473807" "94473807" "subst" "0" "00000" "ABCA4_001279" "g.94473807C>G" "" "{PMID:Fritsche 2012:22427542}" "" "c.5882G>C (p.G1961A)" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000834446" "0" "50" "1" "94528142" "94528142" "subst" "0.00153303" "00000" "ABCA4_000125" "g.94528142A>C" "" "{PMID:Fritsche 2012:22427542}" "" "c.1928T>G (p.V643G)" "" "Unknown" "?" "" "0" "" "" "" "" "VUS" ""
"0000834447" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "00000" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Fritsche 2012:22427542}" "" "c.[1622T>C (p.L541P) (+)c.3113C>T (p.A1038V)]u" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000834448" "1" "70" "1" "94508969" "94508969" "subst" "0.00168642" "00000" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Fritsche 2012:22427542}" "" "c.[1622T>C (p.L541P) (+)c.3113C>T (p.A1038V)]u" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000834449" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "00000" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Fritsche 2012:22427542}" "" "c.5461-10T>C" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000834450" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "00000" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Fritsche 2012:22427542}" "" "c.[1622T>C (p.L541P) (+)c.3113C>T (p.A1038V)]u" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000834451" "1" "70" "1" "94508969" "94508969" "subst" "0.00168642" "00000" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Fritsche 2012:22427542}" "" "c.[1622T>C (p.L541P) (+)c.3113C>T (p.A1038V)]u" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000834452" "0" "90" "1" "94487399" "94487399" "subst" "7.30959E-5" "00000" "ABCA4_000038" "g.94487399T>C" "" "{PMID:Fritsche 2012:22427542}" "" "c.4773+3A>G" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000834453" "0" "90" "1" "94526296" "94526296" "subst" "1.64555E-5" "00000" "ABCA4_000768" "g.94526296G>A" "" "{PMID:Fritsche 2012:22427542}" "" "c.1957C>T (p.R653C)" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000834454" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "00000" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Fritsche 2012:22427542}" "" "c.4139C>T (p.P1380L)" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000834455" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "00000" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Fritsche 2012:22427542}" "" "c.1804C>T (p.R602W)" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000834456" "0" "50" "1" "94528142" "94528142" "subst" "0.00153303" "00000" "ABCA4_000125" "g.94528142A>C" "" "{PMID:Fritsche 2012:22427542}" "" "c.1928T>G (p.V643G)u" "" "Unknown" "?" "" "0" "" "" "" "" "VUS" ""
"0000834457" "0" "90" "1" "94496571" "94496571" "subst" "4.06174E-6" "00000" "ABCA4_000111" "g.94496571G>A" "" "{PMID:Fritsche 2012:22427542}" "" "c.4234C>T (p.Q1412X)" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000834458" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "00000" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Fritsche 2012:22427542}" "" "c.[1622T>C (p.L541P) (+)c.3113C>T (p.A1038V)]u" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000834459" "1" "70" "1" "94508969" "94508969" "subst" "0.00168642" "00000" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Fritsche 2012:22427542}" "" "c.[1622T>C (p.L541P) (+)c.3113C>T (p.A1038V)]u" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000834460" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "00000" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Fritsche 2012:22427542}" "" "c.[1622T>C (p.L541P) (+)c.3113C>T (p.A1038V)]u" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000834461" "1" "70" "1" "94508969" "94508969" "subst" "0.00168642" "00000" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Fritsche 2012:22427542}" "" "c.[1622T>C (p.L541P) (+)c.3113C>T (p.A1038V)]u" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000834462" "0" "70" "1" "94564484" "94564484" "subst" "0.000110199" "00000" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Fritsche 2012:22427542}" "" "c.634C>T (p.R212C)" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000834463" "0" "70" "1" "94490588" "94490588" "subst" "0" "00000" "ABCA4_002347" "g.94490588G>C" "" "{PMID:Fritsche 2012:22427542}" "" "c.4556C>G (p.T1519R)" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000834464" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "00000" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Fritsche 2012:22427542}" "" "c.2588G>C (p.G863A/p.Gly863del)" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000834465" "0" "70" "1" "94490588" "94490588" "subst" "0" "00000" "ABCA4_002347" "g.94490588G>C" "" "{PMID:Fritsche 2012:22427542}" "" "c.4556C>G (p.T1519R)u" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000834466" "0" "50" "1" "94467548" "94467548" "subst" "0.00295661" "00000" "ABCA4_000788" "g.94467548C>G" "" "{PMID:Fritsche 2012:22427542}" "" "c.6148G>C (p.V2050L)" "" "Unknown" "?" "" "0" "" "" "" "" "VUS" ""
"0000834467" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "00000" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Fritsche 2012:22427542}" "" "c.2588G>C (p.G863A/p.Gly863del)" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000834468" "0" "90" "1" "94496571" "94496571" "subst" "4.06174E-6" "00000" "ABCA4_000111" "g.94496571G>A" "" "{PMID:Fritsche 2012:22427542}" "" "c.4234C>T (p.Q1412X)u" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000834469" "0" "50" "1" "94546031" "94546031" "subst" "0" "00000" "ABCA4_002356" "g.94546031T>G" "" "{PMID:Fritsche 2012:22427542}" "" "c.1099+3A>C &c.5338C>G (unknown configuration)" "" "Unknown" "?" "" "0" "" "" "" "" "VUS" ""
"0000834470" "0" "50" "1" "94480221" "94480221" "subst" "0.000109654" "00000" "ABCA4_000176" "g.94480221G>C" "" "{PMID:Fritsche 2012:22427542}" "" "c.1099+3A>C &c.5338C>G (unknown configuration)" "" "Unknown" "?" "" "0" "" "" "" "" "VUS" ""
"0000834471" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "00000" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Fritsche 2012:22427542}" "" "c.2588G>C (p.G863A/p.Gly863del)u" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000834472" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "00000" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Fritsche 2012:22427542}" "" "c.2588G>C (p.G863A/p.Gly863del)" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000834473" "0" "70" "1" "94512590" "94512593" "delins" "0" "00000" "ABCA4_002351" "g.94512590_94512593delinsA" "" "{PMID:Fritsche 2012:22427542}" "" "c.2800_2803delCTGGinsT (p.Val935del)u" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000834474" "0" "50" "1" "94545022" "94545022" "subst" "0" "00000" "ABCA4_002355" "g.94545022C>T" "" "{PMID:Fritsche 2012:22427542}" "" "c.1100-5G>A &c.6079C>T (p.L2027F) (unknown configuration)" "" "Unknown" "?" "" "0" "" "" "" "" "VUS" ""
"0000834475" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "00000" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Fritsche 2012:22427542}" "" "c.1100-5G>A &c.6079C>T (p.L2027F) (unknown configuration)" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000834476" "0" "90" "1" "94476351" "94476351" "subst" "0.000296608" "00000" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Fritsche 2012:22427542}" "" "c.5714+5G>Au" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000834477" "0" "70" "1" "94495008" "94495008" "subst" "0" "00000" "ABCA4_001802" "g.94495008G>T" "" "{PMID:Fritsche 2012:22427542}" "" "c.4532C>A (p.P1511H)" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000834478" "0" "90" "1" "94486898" "94486898" "subst" "0" "00000" "ABCA4_002345" "g.94486898A>C" "" "{PMID:Fritsche 2012:22427542}" "" "c.4916T>G (p.L1639X)u" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000834479" "0" "70" "1" "94520841" "94520841" "subst" "0" "00000" "ABCA4_002352" "g.94520841C>T" "" "{PMID:Fritsche 2012:22427542}" "" "c.2413G>A (p.G805S)" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000834480" "0" "70" "1" "94467467" "94467467" "subst" "4.06164E-6" "00000" "ABCA4_000780" "g.94467467G>A" "" "{PMID:Fritsche 2012:22427542}" "" "c.6229C>T (p.R2077W)u" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000834481" "0" "90" "1" "94528164" "94528164" "subst" "2.03336E-5" "00000" "ABCA4_000267" "g.94528164G>A" "" "{PMID:Fritsche 2012:22427542}" "" "c.1906C>T (p.Q636X)" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000834482" "0" "70" "1" "94508341" "94508341" "subst" "1.21857E-5" "00000" "ABCA4_001298" "g.94508341C>A" "" "{PMID:Fritsche 2012:22427542}" "" "c.3304G>T (p.D1102Y)" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000834483" "0" "90" "1" "94487401" "94487401" "subst" "0" "00000" "ABCA4_000495" "g.94487401C>A" "" "{PMID:Fritsche 2012:22427542}" "" "c.4773+1G>Tu" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000834484" "0" "90" "1" "94476351" "94476351" "subst" "0.000296608" "00000" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Fritsche 2012:22427542}" "" "c.5714+5G>A" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000834485" "0" "70" "1" "94495005" "94495005" "subst" "0" "00000" "ABCA4_002349" "g.94495005G>A" "" "{PMID:Fritsche 2012:22427542}" "" "c.4535C>T (p.P1512L)" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000834486" "0" "90" "1" "94544145" "94544145" "subst" "0" "00000" "ABCA4_002354" "g.94544145C>A" "" "{PMID:Fritsche 2012:22427542}" "" "c.1356+1G>T" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000834487" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Fritsche 2012:22427542}" "" "c.5882G>A (p.G1961E)u" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000834488" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "00000" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Fritsche 2012:22427542}" "" "c.5461-10T>C" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000834489" "0" "50" "1" "94514477" "94514477" "subst" "0.00118992" "00000" "ABCA4_000700" "g.94514477G>A" "" "{PMID:Fritsche 2012:22427542}" "" "c.2690C>T (p.T897I)" "" "Unknown" "?" "" "0" "" "" "" "" "VUS" ""
"0000834490" "0" "70" "1" "94467520" "94467520" "subst" "0" "00000" "ABCA4_001608" "g.94467520C>G" "" "{PMID:Fritsche 2012:22427542}" "" "c.6176G>C (p.G2059A)u" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000843779" "0" "50" "1" "94545997" "94545997" "subst" "0.000191588" "00000" "ABCA4_002358" "g.94545997G>A" "" "{PMID:Wolfson-2015:26312378}" "" "c.1099 + 37C>T" "" "Germline" "" "" "0" "" "" "" "" "VUS" ""
"0000843781" "0" "50" "1" "94545997" "94545997" "subst" "0.000191588" "00000" "ABCA4_002358" "g.94545997G>A" "" "{PMID:Wolfson-2015:26312378}" "" "c.1099 + 37C>T" "" "Germline" "" "" "0" "" "" "" "" "VUS" ""
"0000846496" "3" "70" "1" "94564370" "94564370" "del" "0" "00000" "ABCA4_002359" "g.94564370del" "" "{PMID:Alabdullatif 2017:27717089}" "" "ABCA4 c.749delT, (p.Phe250fs)" "homozygous" "Germline" "yes" "" "0" "" "" "g.94098814del" "" "likely pathogenic" ""
"0000846898" "1" "70" "1" "94506923" "94506923" "subst" "2.43657E-5" "00000" "ABCA4_000012" "g.94506923C>T" "" "{PMID:Avela 2019:31087526}" "" "ABCA4 c.3364G>A , p.(Glu1122Lys)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.94041367C>T" "" "likely pathogenic" ""
"0000846933" "2" "70" "1" "94487399" "94487399" "subst" "7.30959E-5" "00000" "ABCA4_000038" "g.94487399T>C" "" "{PMID:Avela 2019:31087526}" "" "ABCA4 c.4773+3A>G" "no protein annotation; heterozygous" "Germline" "yes" "" "0" "" "" "g.94021843T>C" "" "likely pathogenic" ""
"0000847143" "0" "70" "1" "94564349" "94564349" "subst" "0" "04300" "ABCA4_002367" "g.94564349C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.94098793C>T" "" "likely pathogenic (recessive)" ""
"0000847144" "0" "50" "1" "94480096" "94480096" "subst" "8.1217E-5" "04300" "ABCA4_002378" "g.94480096C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.94014540C>T" "" "VUS" "ACMG"
"0000847145" "0" "70" "1" "94528185" "94528197" "del" "0" "04300" "ABCA4_002366" "g.94528185_94528197del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.94062629_94062641del" "" "likely pathogenic (recessive)" "ACMG"
"0000847146" "0" "50" "1" "94528734" "94528734" "subst" "0.000170585" "04300" "ABCA4_002363" "g.94528734G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.94063178G>T" "" "VUS" "ACMG"
"0000847147" "0" "50" "1" "94528734" "94528734" "subst" "0.000170585" "04300" "ABCA4_002363" "g.94528734G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.94063178G>T" "" "VUS" "ACMG"
"0000847184" "0" "70" "1" "94466425" "94466425" "subst" "0" "04300" "ABCA4_002374" "g.94466425C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.94000869C>G" "" "likely pathogenic (recessive)" "ACMG"
"0000847185" "0" "70" "1" "94520728" "94520736" "del" "0" "04300" "ABCA4_002368" "g.94520728_94520736del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.94055172_94055180del" "" "likely pathogenic (recessive)" "ACMG"
"0000847199" "0" "70" "1" "94497568" "94497568" "del" "0" "04300" "ABCA4_002369" "g.94497568del" "" "" "" "3898delC" "" "Germline" "" "" "0" "" "" "g.94032012del" "" "likely pathogenic (recessive)" "ACMG"
"0000847200" "0" "50" "1" "94487402" "94487402" "subst" "2.43649E-5" "04300" "ABCA4_002379" "g.94487402C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.94021846C>A" "" "VUS" "ACMG"
"0000847201" "0" "90" "1" "94502346" "94502346" "subst" "0" "04300" "ABCA4_002381" "g.94502346T>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.94036790T>A" "" "pathogenic (recessive)" "ACMG"
"0000847202" "0" "70" "1" "94502907" "94502907" "subst" "0" "04300" "ABCA4_002382" "g.94502907C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.94037351C>T" "" "likely pathogenic (recessive)" "ACMG"
"0000847206" "0" "70" "1" "94564429" "94564429" "subst" "0" "04300" "ABCA4_002365" "g.94564429C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.94098873C>A" "" "likely pathogenic (recessive)" "ACMG"
"0000847207" "0" "70" "1" "94496023" "94496023" "subst" "4.06075E-6" "04300" "ABCA4_002380" "g.94496023G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.94030467G>T" "" "likely pathogenic (recessive)" "ACMG"
"0000847208" "0" "70" "1" "94586584" "94586585" "del" "0" "04300" "ABCA4_002370" "g.94586584_94586585del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.94121028_94121029del" "" "likely pathogenic (recessive)" "ACMG"
"0000847209" "0" "70" "1" "94466470" "94466470" "subst" "0" "04300" "ABCA4_002375" "g.94466470T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.94000914T>C" "" "likely pathogenic (recessive)" "ACMG"
"0000847210" "0" "70" "1" "94520801" "94520801" "subst" "0" "04300" "ABCA4_002361" "g.94520801C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.94055245C>G" "" "likely pathogenic (recessive)" "ACMG"
"0000847295" "0" "90" "1" "94466636" "94466636" "subst" "0" "04300" "ABCA4_002376" "g.94466636G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.94001080G>T" "" "pathogenic (recessive)" "ACMG"
"0000847296" "0" "90" "1" "94466645" "94466645" "subst" "0" "04300" "ABCA4_002377" "g.94466645C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.94001089C>T" "" "pathogenic (recessive)" "ACMG"
"0000847297" "0" "70" "1" "94496562" "94496562" "dup" "0" "04300" "ABCA4_002371" "g.94496562dup" "" "" "" "4243dupA" "" "Germline" "" "" "0" "" "" "g.94031006dup" "" "likely pathogenic (recessive)" "ACMG"
"0000847298" "0" "50" "1" "94544916" "94544916" "subst" "0.000142156" "04300" "ABCA4_002364" "g.94544916T>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.94079360T>A" "" "VUS" "ACMG"
"0000847299" "0" "90" "1" "94514427" "94514428" "del" "0" "04300" "ABCA4_002372" "g.94514427_94514428del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.94048871_94048872del" "" "pathogenic (recessive)" "ACMG"
"0000847300" "1" "90" "1" "94512588" "94512588" "del" "0" "04300" "ABCA4_002373" "g.94512588del" "" "" "" "2807delA" "variant in heterozygous state only" "Germline" "" "" "0" "" "" "g.94047032del" "" "pathogenic" "ACMG"
"0000847301" "1" "50" "1" "94520858" "94520858" "subst" "5.70683E-5" "04300" "ABCA4_002362" "g.94520858G>A" "" "" "" "" "variant in heterozygous state only" "Germline" "" "" "0" "" "" "g.94055302G>A" "" "VUS (!)" "ACMG"
"0000847302" "0" "70" "1" "94512488" "94512488" "del" "0" "04300" "ABCA4_002360" "g.94512488del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.94046932del" "" "pathogenic (recessive)" "ACMG"
"0000848874" "0" "50" "1" "94476377" "94476377" "subst" "0.00160473" "02325" "ABCA4_000411" "g.94476377C>T" "" "" "" "ABCA4(NM_000350.2):c.5693G>A (p.R1898H), ABCA4(NM_000350.3):c.5693G>A (p.R1898H, p.(Arg1898His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000848876" "0" "30" "1" "94482015" "94482015" "subst" "0" "02327" "ABCA4_002383" "g.94482015G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000848877" "0" "70" "1" "94486896" "94486896" "subst" "3.65562E-5" "02327" "ABCA4_000085" "g.94486896G>A" "" "" "" "ABCA4(NM_000350.3):c.4918C>T (p.R1640W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0000848878" "0" "50" "1" "94487466" "94487466" "subst" "4.06134E-6" "01943" "ABCA4_001764" "g.94487466G>A" "" "" "" "ABCA4(NM_000350.2):c.4709C>T (p.P1570L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000848879" "0" "50" "1" "94495005" "94495005" "subst" "0" "01943" "ABCA4_002349" "g.94495005G>A" "" "" "" "ABCA4(NM_000350.2):c.4535C>T (p.P1512L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000848880" "0" "70" "1" "94510271" "94510271" "subst" "0" "02330" "ABCA4_000670" "g.94510271G>A" "" "" "" "ABCA4(NM_000350.3):c.2948C>T (p.T983I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0000848881" "0" "30" "1" "94512552" "94512552" "subst" "9.34276E-5" "02330" "ABCA4_002385" "g.94512552G>A" "" "" "" "ABCA4(NM_000350.3):c.2841C>T (p.D947=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000848882" "0" "30" "1" "94520664" "94520664" "subst" "0" "01943" "ABCA4_002386" "g.94520664T>C" "" "" "" "ABCA4(NM_000350.2):c.2587+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000848883" "0" "50" "1" "94526218" "94526218" "subst" "0" "01943" "ABCA4_002387" "g.94526218C>T" "" "" "" "ABCA4(NM_000350.2):c.2035G>A (p.E679K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000848884" "0" "50" "1" "94544960" "94544960" "subst" "8.12552E-6" "02327" "ABCA4_002389" "g.94544960G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000848885" "0" "30" "1" "94544962" "94544962" "subst" "6.90613E-5" "01943" "ABCA4_002142" "g.94544962G>A" "" "" "" "ABCA4(NM_000350.2):c.1155C>T (p.I385=), ABCA4(NM_000350.3):c.1155C>T (p.I385=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000848886" "0" "90" "1" "94546780" "94546780" "subst" "0" "02327" "ABCA4_001271" "g.94546780C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000848887" "0" "50" "1" "94564462" "94564462" "subst" "4.06775E-5" "01943" "ABCA4_000380" "g.94564462C>G" "" "" "" "ABCA4(NM_000350.2):c.656G>C (p.R219T), ABCA4(NM_000350.3):c.656G>C (p.R219T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000857632" "0" "50" "1" "94480146" "94480146" "subst" "2.84273E-5" "02327" "ABCA4_000122" "g.94480146T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000857633" "0" "70" "1" "94487251" "94487251" "subst" "2.85679E-5" "01943" "ABCA4_000490" "g.94487251G>T" "" "" "" "ABCA4(NM_000350.2):c.4793C>A (p.A1598D), ABCA4(NM_000350.3):c.4793C>A (p.A1598D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0000857634" "0" "90" "1" "94487469" "94487469" "del" "0" "02330" "ABCA4_001081" "g.94487469del" "" "" "" "ABCA4(NM_000350.3):c.4706delT (p.V1569Afs*12)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000857635" "0" "50" "1" "94490588" "94490588" "subst" "6.90361E-5" "01943" "ABCA4_001498" "g.94490588G>A" "" "" "" "ABCA4(NM_000350.2):c.4556C>T (p.T1519M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000857636" "0" "50" "1" "94495005" "94495005" "subst" "0" "02327" "ABCA4_002349" "g.94495005G>A" "" "" "" "ABCA4(NM_000350.2):c.4535C>T (p.P1512L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000857637" "0" "50" "1" "94496039" "94496039" "subst" "0.00157963" "01943" "ABCA4_000552" "g.94496039C>T" "" "" "" "ABCA4(NM_000350.2):c.4297G>A (p.V1433I), ABCA4(NM_000350.3):c.4297G>A (p.V1433I, p.(Val1433Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000857638" "0" "50" "1" "94505620" "94505620" "subst" "2.11999E-5" "02327" "ABCA4_002384" "g.94505620T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000857639" "0" "50" "1" "94506878" "94506878" "subst" "4.06081E-6" "02327" "ABCA4_001901" "g.94506878T>C" "" "" "" "ABCA4(NM_000350.3):c.3409A>G (p.(Arg1137Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000857640" "0" "50" "1" "94512499" "94512499" "subst" "0.000130029" "01943" "ABCA4_000072" "g.94512499T>C" "" "" "" "ABCA4(NM_000350.2):c.2894A>G (p.N965S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000857641" "0" "50" "1" "94528297" "94528297" "subst" "1.63175E-5" "02330" "ABCA4_002388" "g.94528297A>T" "" "" "" "ABCA4(NM_000350.3):c.1773T>A (p.S591=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000857642" "0" "30" "1" "94549602" "94549602" "subst" "0" "02330" "ABCA4_001070" "g.94549602A>G" "" "" "" "ABCA4(NM_000350.3):c.769-605T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000857643" "0" "10" "1" "94549653" "94549653" "subst" "0" "02327" "ABCA4_002390" "g.94549653A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000857644" "0" "50" "1" "94564537" "94564537" "subst" "0" "01943" "ABCA4_002391" "g.94564537C>G" "" "" "" "ABCA4(NM_000350.2):c.581G>C (p.G194A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000868876" "0" "70" "1" "94487455" "94487455" "subst" "4.06128E-6" "00000" "ABCA4_000504" "g.94487455C>A" "" "{PMID:Vallim-Salles 2017:28095140}" "" "ABCA4 p.Glu1574*" "heterozygous" "Unknown" "?" "" "0" "" "" "g.94021899C>A" "" "likely pathogenic (recessive)" ""
"0000869587" "0" "30" "1" "94528774" "94528774" "subst" "0.00264827" "00000" "ABCA4_000298" "g.94528774C>T" "" "{PMID:Termuhlen 2016:27573156}" "" "c.1654G>A; p.V552I" "" "Germline" "" "" "0" "" "" "" "" "likely benign" ""
"0000869943" "1" "90" "1" "94473807" "94473807" "subst" "0.00480453" "04333" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Ben Yosef 2023:37287645}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000869944" "2" "90" "1" "94487251" "94487251" "subst" "2.85679E-5" "04333" "ABCA4_000490" "g.94487251G>T" "" "{PMID:Ben Yosef 2023:37287645}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94021695G>T" "" "pathogenic (recessive)" ""
"0000869945" "1" "90" "1" "94473807" "94473807" "subst" "0.00480453" "04333" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Ben Yosef 2023:37287645}" "" "" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000869946" "2" "70" "1" "94471067" "94471067" "del" "0" "04333" "ABCA4_001012" "g.94471067del" "" "{PMID:Ben Yosef 2023:37287645}" "" "6077delT" "" "Unknown" "" "" "0" "" "" "g.94005511del" "" "pathogenic (recessive)" ""
"0000869947" "1" "50" "1" "94577054" "94577054" "subst" "0" "04333" "ABCA4_001353" "g.94577054C>G" "" "{PMID:Ben Yosef 2023:37287645}" "" "" "" "Unknown" "" "" "0" "" "" "g.94111498C>G" "" "likely pathogenic (recessive)" ""
"0000869948" "2" "70" "1" "94471067" "94471067" "del" "0" "04333" "ABCA4_001012" "g.94471067del" "" "{PMID:Ben Yosef 2023:37287645}" "" "6077delT" "" "Unknown" "" "" "0" "" "" "g.94005511del" "" "pathogenic (recessive)" ""
"0000869949" "1" "70" "1" "94487251" "94487251" "subst" "2.85679E-5" "04333" "ABCA4_000490" "g.94487251G>T" "" "{PMID:Ben Yosef 2023:37287645}" "" "" "" "Unknown" "" "" "0" "" "" "g.94021695G>T" "" "pathogenic (recessive)" ""
"0000869950" "2" "90" "1" "94471067" "94471067" "del" "0" "04333" "ABCA4_001012" "g.94471067del" "" "{PMID:Ben Yosef 2023:37287645}" "" "6077delT" "" "Unknown" "" "" "0" "" "" "g.94005511del" "" "pathogenic (recessive)" ""
"0000869951" "3" "90" "1" "94473807" "94473807" "subst" "0.00480453" "04333" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Ben Yosef 2023:37287645}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000869952" "1" "90" "1" "94471067" "94471067" "del" "0" "04333" "ABCA4_001012" "g.94471067del" "" "{PMID:Ben Yosef 2023:37287645}" "" "6077delT" "" "Unknown" "" "" "0" "" "" "g.94005511del" "" "pathogenic (recessive)" ""
"0000869953" "2" "70" "1" "94487251" "94487251" "subst" "2.85679E-5" "04333" "ABCA4_000490" "g.94487251G>T" "" "{PMID:Ben Yosef 2023:37287645}" "" "" "" "Unknown" "" "" "0" "" "" "g.94021695G>T" "" "pathogenic (recessive)" ""
"0000869954" "1" "70" "1" "94471067" "94471067" "del" "0" "04333" "ABCA4_001012" "g.94471067del" "" "{PMID:Ben Yosef 2023:37287645}" "" "6077delT" "" "Germline" "yes" "" "0" "" "" "g.94005511del" "" "pathogenic (recessive)" ""
"0000869955" "2" "70" "1" "94473807" "94473807" "subst" "0.00480453" "04333" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Ben Yosef 2023:37287645}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000869956" "1" "70" "1" "94487251" "94487251" "subst" "2.85679E-5" "04333" "ABCA4_000490" "g.94487251G>T" "" "{PMID:Ben Yosef 2023:37287645}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94021695G>T" "" "pathogenic (recessive)" ""
"0000869957" "2" "70" "1" "94486960" "94486960" "subst" "1.62641E-5" "04333" "ABCA4_001169" "g.94486960C>G" "" "{PMID:Ben Yosef 2023:37287645}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94021404C>G" "" "likely pathogenic (recessive)" ""
"0000869958" "1" "70" "1" "94471067" "94471067" "del" "0" "04333" "ABCA4_001012" "g.94471067del" "" "{PMID:Ben Yosef 2023:37287645}" "" "6077delT" "" "Unknown" "" "" "0" "" "" "g.94005511del" "" "pathogenic (recessive)" ""
"0000869959" "2" "70" "1" "94487251" "94487251" "subst" "2.85679E-5" "04333" "ABCA4_000490" "g.94487251G>T" "" "{PMID:Ben Yosef 2023:37287645}" "" "" "" "Unknown" "" "" "0" "" "" "g.94021695G>T" "" "pathogenic (recessive)" ""
"0000869960" "1" "70" "1" "94471067" "94471067" "del" "0" "04333" "ABCA4_001012" "g.94471067del" "" "{PMID:Ben Yosef 2023:37287645}" "" "6077delT" "" "Unknown" "" "" "0" "" "" "g.94005511del" "" "pathogenic (recessive)" ""
"0000869961" "2" "70" "1" "94473807" "94473807" "subst" "0.00480453" "04333" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Ben Yosef 2023:37287645}" "" "" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000869962" "3" "70" "1" "94471067" "94471067" "del" "0" "04333" "ABCA4_001012" "g.94471067del" "" "{PMID:Ben Yosef 2023:37287645}" "" "6077delT" "" "Germline" "yes" "" "0" "" "" "g.94005511del" "" "pathogenic (recessive)" ""
"0000869983" "21" "70" "1" "94486960" "94486960" "subst" "1.62641E-5" "04333" "ABCA4_001169" "g.94486960C>G" "" "{PMID:Ben Yosef 2023:37287645}" "" "" "no variant 2nd chromosome" "Germline" "yes" "" "0" "" "" "g.94021404C>G" "" "likely pathogenic (recessive)" ""
"0000869984" "21" "70" "1" "94486960" "94486960" "subst" "1.62641E-5" "04333" "ABCA4_001169" "g.94486960C>G" "" "{PMID:Ben Yosef 2023:37287645}" "" "" "no variant 2nd chromosome" "Germline" "yes" "" "0" "" "" "g.94021404C>G" "" "likely pathogenic (recessive)" ""
"0000869985" "0" "70" "1" "94487251" "94487251" "subst" "2.85679E-5" "04333" "ABCA4_000490" "g.94487251G>T" "" "{PMID:Ben Yosef 2023:37287645}" "" "" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94021695G>T" "" "pathogenic" ""
"0000873586" "0" "70" "1" "94487455" "94487455" "subst" "4.06128E-6" "00000" "ABCA4_000504" "g.94487455C>A" "203" "{PMID:Sun 2018:30076350}" "" "ABCA4(NM_000350.2):c.4720G>T(p.E1574*)/c.6289C>T(p.P2097S)" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94021899C>A" "" "likely pathogenic" ""
"0000873587" "0" "70" "1" "94466655" "94466655" "subst" "0" "00000" "ABCA4_000842" "g.94466655G>A" "203" "{PMID:Sun 2018:30076350}" "" "ABCA4(NM_000350.2):c.4720G>T(p.E1574*)/c.6289C>T(p.P2097S)" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94001099G>A" "" "likely pathogenic" ""
"0000878697" "3" "30" "1" "94512565" "94512565" "subst" "0.030364" "00006" "ABCA4_000002" "g.94512565C>T" "" "{PMID:Klevering 2004:15494742}" "" "2588G>C; 2828G>A" "" "Germline" "" "" "0" "" "" "" "" "likely benign" ""
"0000878698" "1" "30" "1" "94512565" "94512565" "subst" "0.030364" "00006" "ABCA4_000002" "g.94512565C>T" "" "{PMID:Klevering 2004:15494742}" "" "2588G>C; 2828G>A" "" "Germline" "" "" "0" "" "" "" "" "likely benign" ""
"0000878699" "2" "30" "1" "94512565" "94512565" "subst" "0.030364" "00006" "ABCA4_000002" "g.94512565C>T" "" "{PMID:Klevering 2004:15494742}" "" "2588G>C; 2828G>A" "" "Germline" "" "" "0" "" "" "" "" "likely benign" ""
"0000878700" "0" "10" "1" "94496602" "94496602" "subst" "0.0234538" "00006" "ABCA4_000913" "g.94496602G>T" "" "{PMID:Klevering 2004:15494742}" "" "4203A,5603T,5682C" "" "Germline" "" "" "0" "" "" "" "" "benign" ""
"0000878701" "0" "10" "1" "94476467" "94476467" "subst" "0.0424562" "00006" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Klevering 2004:15494742}" "" "4203A,5603T,5682C" "" "Germline" "" "" "0" "" "" "" "" "benign" ""
"0000878702" "0" "10" "1" "94476388" "94476388" "subst" "0.215397" "00006" "ABCA4_000890" "g.94476388C>G" "" "{PMID:Klevering 2004:15494742}" "" "4203A,5603T,5682C" "" "Germline" "" "" "0" "" "" "" "" "benign" ""
"0000878703" "1" "30" "1" "94512565" "94512565" "subst" "0.030364" "00006" "ABCA4_000002" "g.94512565C>T" "" "{PMID:Klevering 2004:15494742}" "" "2588G>C; 2828G>A" "" "Germline" "" "" "0" "" "" "" "" "likely benign" ""
"0000878704" "1" "10" "1" "94496602" "94496602" "subst" "0.0234538" "00006" "ABCA4_000913" "g.94496602G>T" "" "{PMID:Klevering 2004:15494742}" "" "4203A,5603T,5682C" "" "Germline" "" "" "0" "" "" "" "" "benign" ""
"0000878705" "1" "10" "1" "94476467" "94476467" "subst" "0.0424562" "00006" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Klevering 2004:15494742}" "" "4203A,5603T,5682C" "" "Germline" "" "" "0" "" "" "" "" "benign" ""
"0000878706" "1" "10" "1" "94476388" "94476388" "subst" "0.215397" "00006" "ABCA4_000890" "g.94476388C>G" "" "{PMID:Klevering 2004:15494742}" "" "4203A,5603T,5682C" "" "Germline" "" "" "0" "" "" "" "" "benign" ""
"0000878707" "3" "30" "1" "94512565" "94512565" "subst" "0.030364" "00006" "ABCA4_000002" "g.94512565C>T" "" "{PMID:Lewis 1999:9973280}, {PMID:Shroyer 2001:11726554}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely benign" ""
"0000878708" "3" "30" "1" "94512565" "94512565" "subst" "0.030364" "00006" "ABCA4_000002" "g.94512565C>T" "" "{PMID:Lewis 1999:9973280}, {PMID:Shroyer 2001:11726554}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely benign" ""
"0000878709" "11" "30" "1" "94512565" "94512565" "subst" "0.030364" "00006" "ABCA4_000002" "g.94512565C>T" "" "{PMID:Shroyer 2001:11726554}" "" "2588G>C, 2828G>A" "" "Germline" "" "" "0" "" "" "" "" "likely benign" ""
"0000878712" "11" "30" "1" "94512565" "94512565" "subst" "0.030364" "00006" "ABCA4_000002" "g.94512565C>T" "" "{PMID:Shroyer 2000:10746567}" "" "2588G>C; 2828G>A" "" "Germline" "" "" "0" "" "" "" "" "likely benign" ""
"0000878713" "21" "30" "1" "94512565" "94512565" "subst" "0.030364" "00006" "ABCA4_000002" "g.94512565C>T" "" "{PMID:Shroyer 2001:11726554}" "" "2588G>C; 2828G>A" "" "Germline" "" "" "0" "" "" "" "" "likely benign" ""
"0000878714" "21" "30" "1" "94512565" "94512565" "subst" "0.030364" "00006" "ABCA4_000002" "g.94512565C>T" "" "{PMID:Shroyer 2001:11726554}" "" "2588G>C; 2828G>A" "" "Germline" "" "" "0" "" "" "" "" "likely benign" ""
"0000878715" "11" "30" "1" "94512565" "94512565" "subst" "0.030364" "00006" "ABCA4_000002" "g.94512565C>T" "" "{PMID:Shroyer 2001:11726554}" "" "2588G>C; 2828G>A" "" "Germline" "" "" "0" "" "" "" "" "likely benign" ""
"0000878716" "10" "30" "1" "94512565" "94512565" "subst" "0.030364" "00006" "ABCA4_000002" "g.94512565C>T" "" "{PMID:Papaioannou 2000:10634594}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely benign" ""
"0000878717" "10" "30" "1" "94512565" "94512565" "subst" "0.030364" "00006" "ABCA4_000002" "g.94512565C>T" "" "{PMID:Papaioannou 2000:10634594}" "" "2588G>C(;)2828G>A" "" "Germline" "" "" "0" "" "" "" "" "likely benign" ""
"0000878718" "10" "30" "1" "94512565" "94512565" "subst" "0.030364" "00006" "ABCA4_000002" "g.94512565C>T" "" "{PMID:Papaioannou 2000:10634594}" "" "2588G>C(;)2828G>A" "" "Germline" "" "" "0" "" "" "" "" "likely benign" ""
"0000878719" "10" "30" "1" "94512565" "94512565" "subst" "0.030364" "00006" "ABCA4_000002" "g.94512565C>T" "" "{PMID:Papaioannou 2000:10634594}" "" "2588G>C(;)2828G>A" "" "Germline" "" "" "0" "" "" "" "" "likely benign" ""
"0000878720" "10" "30" "1" "94512565" "94512565" "subst" "0.030364" "00006" "ABCA4_000002" "g.94512565C>T" "" "{PMID:Papaioannou 2000:10634594}" "" "2588G>C(;)2828G>A" "" "Germline" "" "" "0" "" "" "" "" "likely benign" ""
"0000878721" "0" "30" "1" "94512565" "94512565" "subst" "0.030364" "00006" "ABCA4_000002" "g.94512565C>T" "" "{PMID:Papaioannou 2000:10634594}" "" "2588G>C(;)2828G>A" "" "Germline" "" "" "0" "" "" "" "" "likely benign" ""
"0000878722" "10" "30" "1" "94512565" "94512565" "subst" "0.030364" "00006" "ABCA4_000002" "g.94512565C>T" "" "{PMID:Papaioannou 2000:10634594}" "" "2588G>C(;)2828G>A" "" "Germline" "" "" "0" "" "" "" "" "likely benign" ""
"0000878723" "1" "50" "1" "94512565" "94512565" "subst" "0.030364" "00006" "ABCA4_000002" "g.94512565C>T" "" "{PMID:Chacón-Camacho 2013:23419329}" "" "1804C>T;2828G>A" "" "Germline" "" "" "0" "" "" "" "" "VUS" ""
"0000881226" "11" "90" "1" "94546265" "94546265" "subst" "2.04063E-5" "02300" "ABCA4_000355" "g.94546265G>A" "" "{PMID:Marinakis 2021:34008892}" "" "" "ACMG PM1, PM3, PM5, PP2, PP3, PP5" "Germline" "" "rs781716640" "0" "" "" "g.94080709G>A" "" "pathogenic (recessive)" "ACMG"
"0000881349" "21" "90" "1" "94473807" "94473807" "subst" "0.00480453" "02300" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Marinakis 2021:34008892}" "" "" "ACMG PM1, PM3, PM5, PP2, PP3, PP5" "Germline" "" "rs1800553" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" "ACMG"
"0000881408" "1" "90" "1" "94473807" "94473807" "subst" "0.00480453" "04405" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Hitti-Malin 2022:36259723}, {DOI:Hitti-Malin 2022:10.1002/humu.24489}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic" "ACMG"
"0000881409" "1" "70" "1" "94510228" "94510228" "dup" "0" "04405" "ABCA4_002398" "g.94510228dup" "" "{PMID:Hitti-Malin 2022:36259723}, {DOI:Hitti-Malin 2022:10.1002/humu.24489}" "" "" "" "Germline" "" "" "0" "" "" "g.94044672dup" "" "likely pathogenic" "ACMG"
"0000881410" "3" "90" "1" "94548932" "94548932" "del" "4.06587E-6" "04405" "ABCA4_001022" "g.94548932del" "" "{PMID:Hitti-Malin 2022:36259723}, {DOI:Hitti-Malin 2022:10.1002/humu.24489}" "" "" "" "Germline" "" "" "0" "" "" "g.94083376del" "" "pathogenic" "ACMG"
"0000881411" "3" "90" "1" "94512580" "94512580" "subst" "2.8431E-5" "04405" "ABCA4_000695" "g.94512580A>G" "" "{PMID:Hitti-Malin 2022:36259723}, {DOI:Hitti-Malin 2022:10.1002/humu.24489}" "" "" "" "Germline" "" "" "0" "" "" "g.94047024A>G" "" "pathogenic" "ACMG"
"0000881412" "1" "90" "1" "94526212" "94526212" "subst" "1.22012E-5" "04405" "ABCA4_000075" "g.94526212G>A" "" "{PMID:Hitti-Malin 2022:36259723}, {DOI:Hitti-Malin 2022:10.1002/humu.24489}" "" "" "" "Germline" "" "" "0" "" "" "g.94060656G>A" "" "pathogenic" "ACMG"
"0000881450" "2" "90" "1" "94474306" "94474426" "del" "0" "04405" "ABCA4_002397" "g.(94473854_94474306)_(94474426_94476357)del" "" "{PMID:Hitti-Malin 2022:36259723}, {DOI:Hitti-Malin 2022:10.1002/humu.24489}" "" "del ex41, (?_5715)_(5835_?)del" "" "Germline" "" "" "0" "" "" "g.(94008298_94008750)_(94008870_94010801)del" "" "pathogenic" "ACMG"
"0000881451" "2" "90" "1" "94471025" "94471025" "subst" "0.00031698" "04405" "ABCA4_000096" "g.94471025C>T" "" "{PMID:Hitti-Malin 2022:36259723}, {DOI:Hitti-Malin 2022:10.1002/humu.24489}" "" "" "" "Germline" "" "" "0" "" "" "g.94005469C>T" "" "pathogenic" "ACMG"
"0000881452" "2" "50" "1" "94520678" "94520678" "subst" "8.9367E-5" "04405" "ABCA4_002014" "g.94520678T>C" "" "{PMID:Hitti-Malin 2022:36259723}, {DOI:Hitti-Malin 2022:10.1002/humu.24489}" "" "" "" "Germline" "" "" "0" "" "" "g.94055122T>C" "" "VUS" "ACMG"
"0000883638" "0" "30" "1" "94463534" "94463534" "subst" "0" "02330" "ABCA4_002399" "g.94463534G>A" "" "" "" "ABCA4(NM_000350.3):c.6612C>T (p.N2204=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000883639" "0" "50" "1" "94466417" "94466417" "subst" "0" "02330" "ABCA4_001200" "g.94466417C>A" "" "" "" "ABCA4(NM_000350.3):c.6454G>T (p.G2152C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000883640" "0" "30" "1" "94467441" "94467441" "subst" "0.0033225" "02327" "ABCA4_001203" "g.94467441G>A" "" "" "" "ABCA4(NM_000350.3):c.6255C>T (p.L2085=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000883641" "0" "90" "1" "94467543" "94467543" "del" "0" "02330" "ABCA4_000955" "g.94467543del" "" "" "" "ABCA4(NM_000350.3):c.6155delA (p.N2052Tfs*9)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000883642" "0" "50" "1" "94474413" "94474413" "subst" "4.06597E-6" "02325" "ABCA4_002400" "g.94474413G>A" "" "" "" "ABCA4(NM_000350.3):c.5729C>T (p.T1910I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000883643" "0" "70" "1" "94474428" "94474428" "subst" "0" "02330" "ABCA4_002401" "g.94474428C>G" "" "" "" "ABCA4(NM_000350.3):c.5715-1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0000883644" "0" "70" "1" "94476428" "94476428" "subst" "7.71699E-5" "02330" "ABCA4_000422" "g.94476428G>A" "" "" "" "ABCA4(NM_000350.2):c.5642C>T (p.A1881V), ABCA4(NM_000350.3):c.5642C>T (p.A1881V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0000883645" "0" "70" "1" "94480178" "94480178" "subst" "2.43692E-5" "02325" "ABCA4_000005" "g.94480178G>T" "" "" "" "ABCA4(NM_000350.2):c.5381C>A (p.A1794D), ABCA4(NM_000350.3):c.5381C>A (p.A1794D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0000883646" "0" "90" "1" "94480241" "94480241" "subst" "7.71705E-5" "02330" "ABCA4_000446" "g.94480241G>A" "" "" "" "ABCA4(NM_000350.3):c.5318C>T (p.A1773V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000883647" "0" "10" "1" "94481929" "94481929" "subst" "0" "02327" "ABCA4_002402" "g.94481929C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000883648" "0" "10" "1" "94481951" "94481951" "subst" "0" "02327" "ABCA4_002403" "g.94481951G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000883649" "0" "10" "1" "94484123" "94484123" "subst" "0" "02327" "ABCA4_001722" "g.94484123T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000883650" "0" "50" "1" "94490534" "94490534" "subst" "0.000125895" "02327" "ABCA4_000520" "g.94490534G>A" "" "" "" "ABCA4(NM_000350.2):c.4610C>T (p.T1537M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000883651" "0" "90" "1" "94502899" "94502899" "del" "0" "02327" "ABCA4_000920" "g.94502899del" "" "" "" "ABCA4(NM_000350.2):c.3617delA (p.N1206Mfs*3)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000883652" "0" "50" "1" "94506865" "94506865" "subst" "1.21826E-5" "02330" "ABCA4_002404" "g.94506865G>A" "" "" "" "ABCA4(NM_000350.3):c.3422C>T (p.S1141L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000883653" "0" "50" "1" "94506880" "94506880" "subst" "0" "02330" "ABCA4_001902" "g.94506880C>T" "" "" "" "ABCA4(NM_000350.3):c.3407G>A (p.G1136E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000883654" "0" "70" "1" "94510248" "94510248" "subst" "0.000544123" "02330" "ABCA4_000107" "g.94510248C>G" "" "" "" "ABCA4(NM_000350.2):c.2971G>C (p.G991R), ABCA4(NM_000350.3):c.2971G>C (p.G991R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0000883656" "0" "50" "1" "94512602" "94512602" "subst" "0.000369717" "02327" "ABCA4_000052" "g.94512602C>T" "" "" "" "ABCA4(NM_000350.3):c.2791G>A (p.V931M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000883657" "0" "10" "1" "94528143" "94528143" "subst" "0.00124448" "02327" "ABCA4_000076" "g.94528143C>T" "" "" "" "ABCA4(NM_000350.3):c.1927G>A (p.V643M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000883658" "0" "50" "1" "94528253" "94528253" "subst" "8.13729E-6" "02330" "ABCA4_000767" "g.94528253C>T" "" "" "" "ABCA4(NM_000350.3):c.1817G>A (p.G606D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000883659" "0" "50" "1" "94528713" "94528713" "subst" "4.87381E-5" "02330" "ABCA4_000072" "g.94528713C>T" "" "" "" "ABCA4(NM_000350.2):c.1715G>A (p.R572Q), ABCA4(NM_000350.3):c.1715G>A (p.R572Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000883660" "0" "50" "1" "94544909" "94544909" "subst" "4.06111E-6" "02327" "ABCA4_000081" "g.94544909T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000883661" "0" "30" "1" "94544962" "94544962" "subst" "6.90613E-5" "02330" "ABCA4_002142" "g.94544962G>A" "" "" "" "ABCA4(NM_000350.2):c.1155C>T (p.I385=), ABCA4(NM_000350.3):c.1155C>T (p.I385=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000883662" "0" "70" "1" "94546099" "94546099" "subst" "0" "02327" "ABCA4_001389" "g.94546099T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0000883663" "0" "90" "1" "94546299" "94546299" "subst" "0" "02327" "ABCA4_002405" "g.94546299T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000883664" "0" "70" "1" "94548983" "94548983" "dup" "0" "02330" "ABCA4_002406" "g.94548983dup" "" "" "" "ABCA4(NM_000350.3):c.783dupA (p.D262Rfs*18)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0000883665" "0" "50" "1" "94564499" "94564499" "subst" "2.45767E-5" "02327" "ABCA4_002407" "g.94564499C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000896446" "1" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "00000" "ABCA4_000117" "g.94528266G>A" "Taiwan Biobank: 0; GnomAD_exome_East: 0.000272; GnomAD_All: 0.0000438" "{PMID:Chen 2021:33608557}" "" "ABCA4 c.[1804C>T];[6113G>A]; p.(Arg602Trp)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.94062710G>A" "" "pathogenic" ""
"0000896447" "2" "70" "1" "94471031" "94471031" "subst" "2.43825E-5" "00000" "ABCA4_001620" "g.94471031C>T" "Taiwan Biobank: 0; GnomAD_exome_East: 0; GnomAD_All: 0.0000199" "{PMID:Chen 2021:33608557}" "" "ABCA4 c.[1804C>T];[6113G>A]; p.(Arg2038Gln)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.94005475C>T" "" "likely pathogenic" ""
"0000896448" "1" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "00000" "ABCA4_000117" "g.94528266G>A" "Taiwan Biobank: 0; GnomAD_exome_East: 0.000272; GnomAD_All: 0.0000438" "{PMID:Chen 2021:33608557}" "" "ABCA4 c.[1804C>T];[6722T>C]; p.(Arg602Trp)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.94062710G>A" "" "pathogenic" ""
"0000896449" "2" "70" "1" "94463424" "94463424" "subst" "0" "00000" "ABCA4_001562" "g.94463424A>G" "Taiwan Biobank: 0; GnomAD_exome_East: 0; GnomAD_All: 0" "{PMID:Chen 2021:33608557}" "" "ABCA4 c.[1804C>T];[6722T>C]; p.(Leu2241Pro)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.93997868A>G" "" "likely pathogenic" ""
"0000896475" "0" "70" "1" "94508358" "94508358" "subst" "4.06167E-6" "00000" "ABCA4_000636" "g.94508358G>A" "Taiwan Biobank: 0; GnomAD_exome_East: 0; GnomAD_All: 0.00000398" "{PMID:Chen 2021:33608557}" "" "ABCA4 c.3287C>T(;)6190G>A; p.(Ser1096Leu)" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94042802G>A" "" "likely pathogenic" ""
"0000896476" "0" "70" "1" "94467506" "94467506" "subst" "3.24913E-5" "00000" "ABCA4_000785" "g.94467506C>T" "Taiwan Biobank: 0.000659; GnomAD_exome_East: 0.000381; GnomAD_All: 0.0000358" "{PMID:Chen 2021:33608557}" "" "ABCA4 c.3287C>T(;)6190G>A; p.(Ala2064Thr)" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94001950C>T" "" "likely pathogenic" ""
"0000896495" "1" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "00000" "ABCA4_000117" "g.94528266G>A" "Taiwan Biobank: 0; GnomAD_exome_East: 0.000272; GnomAD_All: 0.0000438" "{PMID:Chen 2021:33608557}" "" "ABCA4 c.[1804C>T];[5645T>C]; p.(Arg602Trp)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.94062710G>A" "" "pathogenic" ""
"0000896496" "2" "70" "1" "94476425" "94476425" "subst" "8.12282E-6" "00000" "ABCA4_000419" "g.94476425A>G" "Taiwan Biobank: 0.00033; GnomAD_exome_East: 0.000109; GnomAD_All: 0.00000795" "{PMID:Chen 2021:33608557}" "" "ABCA4 c.[1804C>T];[5645T>C]; p.(Met1882Thr)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.94010869A>G" "" "likely pathogenic" ""
"0000896497" "0" "50" "1" "94474381" "94474381" "subst" "1.21849E-5" "00000" "ABCA4_000410" "g.94474381C>T" "Taiwan Biobank: 0; GnomAD_exome_East: 0.000217; GnomAD_All: 0.0000159" "{PMID:Chen 2021:33608557}" "" "ABCA4 c.5761G>A(;)6118C>T; p.(Val1921Met)" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94008825C>T" "" "VUS" ""
"0000896498" "0" "90" "1" "94471026" "94471026" "subst" "1.21925E-5" "00000" "ABCA4_000791" "g.94471026G>A" "Taiwan Biobank: 0; GnomAD_exome_East: 0.000163; GnomAD_All: 0.0000119" "{PMID:Chen 2021:33608557}" "" "ABCA4 c.5761G>A(;)6118C>T; p.(Arg2040Ter)" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94005470G>A" "" "pathogenic" ""
"0000896508" "0" "70" "1" "94578589" "94578594" "del" "0" "00000" "ABCA4_000249" "g.94578589_94578594del" "Taiwan Biobank: 0.000334; GnomAD_exome_East: 0.000272; GnomAD_All: 0.0000199" "{PMID:Chen 2021:33608557}" "" "ABCA4 c.[101_106del];[?]; p.(Ser34_Leu35del)" "heterozygous; single variant in a recessive gene, no second allele found" "Germline" "yes" "" "0" "" "" "g.94113033_94113038del" "" "likely pathogenic" ""
"0000896509" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "00000" "ABCA4_000117" "g.94528266G>A" "Taiwan Biobank: 0; GnomAD_exome_East: 0.000272; GnomAD_All: 0.0000438" "{PMID:Chen 2021:33608557}" "" "ABCA4 c.1804C>T(;)5761G>A; p.(Arg602Trp)" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94062710G>A" "" "pathogenic" ""
"0000896510" "0" "50" "1" "94474381" "94474381" "subst" "1.21849E-5" "00000" "ABCA4_000410" "g.94474381C>T" "Taiwan Biobank: 0; GnomAD_exome_East: 0.000217; GnomAD_All: 0.0000159" "{PMID:Chen 2021:33608557}" "" "ABCA4 c.1804C>T(;)5761G>A; p.(Val1921Met)" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94008825C>T" "" "VUS" ""
"0000896515" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "00000" "ABCA4_000117" "g.94528266G>A" "Taiwan Biobank: 0; GnomAD_exome_East: 0.000272; GnomAD_All: 0.0000438" "{PMID:Chen 2021:33608557}" "" "ABCA4 c.1804C>T(;)2894A>G; p.(Arg602Trp)" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94062710G>A" "" "pathogenic" ""
"0000896516" "0" "90" "1" "94512499" "94512499" "subst" "0.000130029" "00000" "ABCA4_000072" "g.94512499T>C" "Taiwan Biobank: 0.000659; GnomAD_exome_East: 0.000435; GnomAD_All: 0.000135" "{PMID:Chen 2021:33608557}" "" "ABCA4 c.1804C>T(;)2894A>G; p.(Asn965Ser)" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94046943T>C" "" "pathogenic" ""
"0000896536" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "00000" "ABCA4_000117" "g.94528266G>A" "Taiwan Biobank: 0; GnomAD_exome_East: 0.000272; GnomAD_All: 0.0000438" "{PMID:Chen 2021:33608557}" "" "ABCA4 c.1804C>T(;)4519G>A; p.(Arg602Trp)" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94062710G>A" "" "pathogenic" ""
"0000896537" "0" "70" "1" "94495021" "94495021" "subst" "0.000161713" "00000" "ABCA4_000538" "g.94495021C>T" "Taiwan Biobank: 0; GnomAD_exome_East: 0; GnomAD_All: 0.000162" "{PMID:Chen 2021:33608557}" "" "ABCA4 c.1804C>T(;)4519G>A; p.(Gly1507Arg)" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94029465C>T" "" "likely pathogenic" ""
"0000896542" "0" "90" "1" "94512499" "94512499" "subst" "0.000130029" "00000" "ABCA4_000072" "g.94512499T>C" "Taiwan Biobank: 0.000659; GnomAD_exome_East: 0.000435; GnomAD_All: 0.000135" "{PMID:Chen 2021:33608557}" "" "ABCA4 c.2894A>G(;)3352C>T; p.(Asn965Ser)" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94046943T>C" "" "pathogenic" ""
"0000896543" "0" "70" "1" "94506935" "94506935" "subst" "4.06098E-6" "00000" "ABCA4_000626" "g.94506935G>A" "Taiwan Biobank: 0; GnomAD_exome_East: 0; GnomAD_All: 0" "{PMID:Chen 2021:33608557}" "" "ABCA4 c.2894A>G(;)3352C>T; p.(His1118Tyr)" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94041379G>A" "" "likely pathogenic" ""
"0000896549" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "00000" "ABCA4_000117" "g.94528266G>A" "Taiwan Biobank: 0; GnomAD_exome_East: 0.000272; GnomAD_All: 0.0000438" "{PMID:Chen 2021:33608557}" "" "ABCA4 c.1804C>T(;)4555del; p.(Arg602Trp)" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94062710G>A" "" "pathogenic" ""
"0000896550" "0" "70" "1" "94490589" "94490589" "del" "0" "00000" "ABCA4_000526" "g.94490589del" "Taiwan Biobank: 0; GnomAD_exome_East: 0; GnomAD_All: 0" "{PMID:Chen 2021:33608557}" "" "ABCA4 c.1804C>T(;)4555del; p.(Thr1519ArgfsTer7)" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94025033del" "" "likely pathogenic" ""
"0000896556" "0" "70" "1" "94471032" "94471032" "subst" "1.62553E-5" "00000" "ABCA4_000792" "g.94471032G>A" "Taiwan Biobank: 0; GnomAD_exome_East: 0; GnomAD_All: 0.0000159" "{PMID:Chen 2021:33608557}" "" "ABCA4 c.4505G>A(;)6112C>T; p.(Arg2038Trp)" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94005476G>A" "" "likely pathogenic" ""
"0000896557" "0" "70" "1" "94495035" "94495035" "subst" "0" "00000" "ABCA4_001806" "g.94495035C>T" "Taiwan Biobank: 0; GnomAD_exome_East: 0; GnomAD_All: 0" "{PMID:Chen 2021:33608557}" "" "ABCA4 c.4505G>A(;)6112C>T; p.(Cys1502Tyr)" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94029479C>T" "" "likely pathogenic" ""
"0000896558" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "00000" "ABCA4_000117" "g.94528266G>A" "Taiwan Biobank: 0; GnomAD_exome_East: 0.000272; GnomAD_All: 0.0000438" "{PMID:Chen 2021:33608557}" "" "ABCA4 c.71G>A(;)1804C>T; p.(Arg602Trp)" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94062710G>A" "" "pathogenic" ""
"0000896559" "0" "70" "1" "94578618" "94578618" "subst" "0.000166918" "00000" "ABCA4_000252" "g.94578618C>T" "Taiwan Biobank: 0.000991; GnomAD_exome_East: 0.00147; GnomAD_All: 0.000179" "{PMID:Chen 2021:33608557}" "" "ABCA4 c.71G>A(;)1804C>T; p.(Arg24His)" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94113062C>T" "" "likely pathogenic" ""
"0000896560" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "00000" "ABCA4_000117" "g.94528266G>A" "Taiwan Biobank: 0; GnomAD_exome_East: 0.000272; GnomAD_All: 0.0000438" "{PMID:Chen 2021:33608557}" "" "ABCA4 c.101_106del(;)1804C>T; p.(Arg602Trp)" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94062710G>A" "" "pathogenic" ""
"0000896561" "0" "70" "1" "94578589" "94578594" "del" "0" "00000" "ABCA4_000249" "g.94578589_94578594del" "Taiwan Biobank: 0.000334; GnomAD_exome_East: 0.000272; GnomAD_All: 0.0000199" "{PMID:Chen 2021:33608557}" "" "ABCA4 c.101_106del(;)1804C>T; p.(Ser34_Leu35del)" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94113033_94113038del" "" "likely pathogenic" ""
"0000896566" "0" "70" "1" "94508371" "94508371" "subst" "2.03057E-5" "00000" "ABCA4_002343" "g.94508371C>A" "Taiwan Biobank: 0.000991; GnomAD_exome_East: 0.000381; GnomAD_All: 0.0000278" "{PMID:Chen 2021:33608557}" "" "ABCA4 c.[3274G>T];[?]; p.(Val1092Leu)" "heterozygous; single variant in a recessive gene, no second allele found" "Germline" "yes" "" "0" "" "" "g.94042815C>A" "" "likely pathogenic" ""
"0000896574" "0" "70" "1" "94476901" "94476901" "subst" "6.50005E-5" "00000" "ABCA4_001486" "g.94476901A>G" "Taiwan Biobank: 0.00033; GnomAD_exome_East: 0.000869; GnomAD_All: 0.0000716" "{PMID:Chen 2021:33608557}" "" "ABCA4 c.5501T>C(;)6113G>A; p.(Ile1834Thr)" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94011345A>G" "" "likely pathogenic" ""
"0000896575" "0" "70" "1" "94471031" "94471031" "subst" "2.43825E-5" "00000" "ABCA4_001620" "g.94471031C>T" "Taiwan Biobank: 0; GnomAD_exome_East: 0; GnomAD_All: 0.0000199" "{PMID:Chen 2021:33608557}" "" "ABCA4 c.5501T>C(;)6113G>A; p.(Arg2038Gln)" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94005475C>T" "" "likely pathogenic" ""
"0000896586" "0" "90" "1" "94512499" "94512499" "subst" "0.000130029" "00000" "ABCA4_000072" "g.94512499T>C" "Taiwan Biobank: 0.000659; GnomAD_exome_East: 0.000435; GnomAD_All: 0.000135" "{PMID:Chen 2021:33608557}" "" "ABCA4 c.858+2T>A(;)2894A>G; p.(Asn965Ser)" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94046943T>C" "" "pathogenic" ""
"0000896587" "0" "90" "1" "94548906" "94548906" "subst" "0" "00000" "ABCA4_000358" "g.94548906A>T" "Taiwan Biobank: 0; GnomAD_exome_East: 0; GnomAD_All: 0" "{PMID:Chen 2021:33608557}" "" "ABCA4 c.858+2T>A(;)2894A>G; p.?" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94083350A>T" "" "pathogenic" ""
"0000896603" "0" "90" "1" "94528868" "94528868" "del" "0" "00000" "ABCA4_000304" "g.94528868del" "Taiwan Biobank: 0; GnomAD_exome_East: 0.0000544; GnomAD_All: 0.00000398" "{PMID:Chen 2021:33608557}" "" "ABCA4 c.1561del(;)3004C>T; p.(Val521SerfsTer47)" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94063312del" "" "pathogenic" ""
"0000896604" "0" "70" "1" "94510215" "94510215" "subst" "1.21818E-5" "00000" "ABCA4_000666" "g.94510215G>A" "Taiwan Biobank: 0; GnomAD_exome_East: 0.0000544; GnomAD_All: 0.0000119" "{PMID:Chen 2021:33608557}" "" "ABCA4 c.1561del(;)3004C>T; p.(Arg1002Trp)" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94044659G>A" "" "likely pathogenic" ""
"0000896612" "0" "70" "1" "94466624" "94466624" "subst" "0.0014345" "00000" "ABCA4_000093" "g.94466624C>T" "Taiwan Biobank: 0.00033; GnomAD_exome_East: 0.00103; GnomAD_All: 0.00148" "{PMID:Chen 2021:33608557}" "" "ABCA4 c.1531C>T(;)6320G>A; p.(Arg2107His)" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94001068C>T" "" "likely pathogenic" ""
"0000896613" "0" "70" "1" "94543269" "94543269" "subst" "0.000179087" "00000" "ABCA4_000307" "g.94543269G>A" "Taiwan Biobank: 0.000989; GnomAD_exome_East: 0.0019; GnomAD_All: 0.000171" "{PMID:Chen 2021:33608557}" "" "ABCA4 c.1531C>T(;)6320G>A; p.(Arg511Cys)" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94077713G>A" "" "likely pathogenic" ""
"0000896625" "0" "90" "1" "94471001" "94471001" "del" "0" "00000" "ABCA4_001337" "g.94471001del" "Taiwan Biobank: 0; GnomAD_exome_East: 0; GnomAD_All: 0" "{PMID:Chen 2021:33608557}" "" "ABCA4 c.2424C>G(;)6146del; p.(Lys2049ArgfsTer12)" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94005445del" "" "pathogenic" ""
"0000896626" "0" "90" "1" "94520830" "94520830" "subst" "0" "00000" "ABCA4_000727" "g.94520830G>C" "Taiwan Biobank: 0.00033; GnomAD_exome_East: 0; GnomAD_All: 0" "{PMID:Chen 2021:33608557}" "" "ABCA4 c.2424C>G(;)6146del; p.(Tyr808Ter)" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94055274G>C" "" "pathogenic" ""
"0000896634" "3" "90" "1" "94466391" "94466391" "subst" "0" "00000" "ABCA4_000813" "g.94466391C>G" "Taiwan Biobank: 0; GnomAD_exome_East: 0; GnomAD_All: 0" "{PMID:Chen 2021:33608557}" "" "ABCA4 c.[6479+1G>C];[6479+1G>C]; p.?" "homozygous" "Germline" "yes" "" "0" "" "" "g.94000835C>G" "" "pathogenic" ""
"0000896643" "0" "70" "1" "94471017" "94471017" "subst" "8.12836E-6" "00000" "ABCA4_001618" "g.94471017G>A" "Taiwan Biobank: 0.000989; GnomAD_exome_East: 0.000109; GnomAD_All: 0.00000796" "{PMID:Chen 2021:33608557}" "" "ABCA4 c.1804C>T(;)6127C>T; p.(Pro2043Ser)" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94005461G>A" "" "likely pathogenic" ""
"0000896644" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "00000" "ABCA4_000117" "g.94528266G>A" "Taiwan Biobank: 0; GnomAD_exome_East: 0.000272; GnomAD_All: 0.0000438" "{PMID:Chen 2021:33608557}" "" "ABCA4 c.1804C>T(;)6127C>T; p.(Arg602Trp)" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94062710G>A" "" "pathogenic" ""
"0000896647" "0" "90" "1" "94461664" "94461664" "subst" "4.06841E-6" "00000" "ABCA4_000860" "g.94461664C>T" "Taiwan Biobank: 0; GnomAD_exome_East: 0.0000544; GnomAD_All: 0.00000398" "{PMID:Chen 2021:33608557}" "" "ABCA4 c.400C>T(;)6816+1G>A; p.?" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.93996108C>T" "" "pathogenic" ""
"0000896648" "0" "90" "1" "94574175" "94574175" "subst" "0" "00000" "ABCA4_000214" "g.94574175G>A" "Taiwan Biobank: 0; GnomAD_exome_East: 0; GnomAD_All: 0" "{PMID:Chen 2021:33608557}" "" "ABCA4 c.400C>T(;)6816+1G>A; p.(Gln134Ter)" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94108619G>A" "" "pathogenic" ""
"0000896656" "0" "90" "1" "94487197" "94487198" "ins" "0" "00000" "ABCA4_001753" "g.94487197_94487198insA" "Taiwan Biobank: 0; GnomAD_exome_East: 0; GnomAD_All: 0" "{PMID:Chen 2021:33608557}" "" "ABCA4 c.3329-3C>G(;)4846_4847insT; p.(Lys1616IlefsTer5)" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94021641_94021642insA" "" "pathogenic" ""
"0000896657" "0" "50" "1" "94506961" "94506961" "subst" "0" "00000" "ABCA4_001913" "g.94506961G>C" "Taiwan Biobank: 0; GnomAD_exome_East: 0; GnomAD_All: 0" "{PMID:Chen 2021:33608557}" "" "ABCA4 c.3329-3C>G(;)4846_4847insT; p.?" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94041405G>C" "" "VUS" ""
"0000896671" "0" "70" "1" "94471025" "94471025" "subst" "0.00031698" "00000" "ABCA4_000096" "g.94471025C>T" "Taiwan Biobank: 0.001978; GnomAD_exome_East: 0.00185; GnomAD_All: 0.000314" "{PMID:Chen 2021:33608557}" "" "ABCA4 c.4555del(;)6119G>A; p.(Arg2040Gln)" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94005469C>T" "" "likely pathogenic" ""
"0000896672" "0" "70" "1" "94490589" "94490589" "del" "0" "00000" "ABCA4_000526" "g.94490589del" "Taiwan Biobank: 0; GnomAD_exome_East: 0; GnomAD_All: 0" "{PMID:Chen 2021:33608557}" "" "ABCA4 c.4555del(;)6119G>A; p.(Thr1519ArgfsTer7)" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94025033del" "" "likely pathogenic" ""
"0000896692" "0" "70" "1" "94474381" "94474381" "subst" "1.21849E-5" "00000" "ABCA4_000410" "g.94474381C>T" "Taiwan Biobank: 0; GnomAD_exome_East: 0.000217; GnomAD_All: 0.0000159" "{PMID:Chen 2021:33608557}" "" "ABCA4 c.101_106del(;)5761G>A; p.(Val1921Met)" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94008825C>T" "" "likely pathogenic" ""
"0000896693" "0" "70" "1" "94578589" "94578594" "del" "0" "00000" "ABCA4_000249" "g.94578589_94578594del" "Taiwan Biobank: 0.000334; GnomAD_exome_East: 0.000272; GnomAD_All: 0.0000199" "{PMID:Chen 2021:33608557}" "" "ABCA4 c.101_106del(;)5761G>A; p.(Ser34_Leu35del)" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94113033_94113038del" "" "likely pathogenic" ""
"0000896694" "0" "70" "1" "94497392" "94497392" "subst" "0" "00000" "ABCA4_000576" "g.94497392G>T" "Taiwan Biobank: 0; GnomAD_exome_East: 0; GnomAD_All: 0" "{PMID:Chen 2021:33608557}" "" "ABCA4 c.4070C>A(;)4519G>A; p.(Ala1357Glu)" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94031836G>T" "" "likely pathogenic" ""
"0000896695" "0" "70" "1" "94495021" "94495021" "subst" "0.000161713" "00000" "ABCA4_000538" "g.94495021C>T" "Taiwan Biobank: 0; GnomAD_exome_East: 0; GnomAD_All: 0.000162" "{PMID:Chen 2021:33608557}" "" "ABCA4 c.4070C>A(;)4519G>A; p.(Gly1507Arg)" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94029465C>T" "" "likely pathogenic" ""
"0000896702" "0" "70" "1" "94508341" "94508341" "subst" "1.21857E-5" "00000" "ABCA4_001298" "g.94508341C>A" "Taiwan Biobank: 0.0015; GnomAD_exome_East: 0.000217; GnomAD_All: 0.0000159" "{PMID:Chen 2021:33608557}" "" "ABCA4 c.2894A>G(;)3304G>T; p.(Asp1102Tyr)" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94042785C>A" "" "likely pathogenic" ""
"0000896703" "0" "90" "1" "94512499" "94512499" "subst" "0.000130029" "00000" "ABCA4_000072" "g.94512499T>C" "Taiwan Biobank: 0.000659; GnomAD_exome_East: 0.000435; GnomAD_All: 0.000135" "{PMID:Chen 2021:33608557}" "" "ABCA4 c.2894A>G(;)3304G>T; p.(Asn965Ser)" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94046943T>C" "" "pathogenic" ""
"0000896708" "0" "70" "1" "94512566" "94512566" "subst" "7.31149E-5" "00000" "ABCA4_000693" "g.94512566G>A" "Taiwan Biobank: 0.000659; GnomAD_exome_East: 0.000544; GnomAD_All: 0.0000795" "{PMID:Chen 2021:33608557}" "" "ABCA4 c.2827C>T(;)6498C>G; p.(Arg943Trp)" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94047010G>A" "" "likely pathogenic" ""
"0000896709" "0" "50" "1" "94463648" "94463648" "subst" "0.000162447" "00000" "ABCA4_001373" "g.94463648G>C" "Taiwan Biobank: 0.001318; GnomAD_exome_East: 0.00223; GnomAD_All: 0.000167" "{PMID:Chen 2021:33608557}" "" "ABCA4 c.2827C>T(;)6498C>G; p.(Ile2166Met)" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.93998092G>C" "" "VUS" ""
"0000899447" "1" "90" "1" "94490567" "94490567" "subst" "5.68528E-5" "04206" "ABCA4_000026" "g.94490567G>A" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94025011G>A" "" "pathogenic (recessive)" ""
"0000899448" "1" "90" "1" "94528749" "94528749" "del" "0" "04206" "ABCA4_002092" "g.94528749del" "" "{PMID:Tian 2024:37774808}" "" "1680delC" "" "Germline" "" "" "0" "" "" "g.94063193del" "" "pathogenic (recessive)" ""
"0000899449" "1" "90" "1" "94512499" "94512499" "subst" "0.000130029" "04206" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "" "" "0" "" "" "g.94046943T>C" "" "pathogenic (recessive)" ""
"0000899450" "1" "90" "1" "94543269" "94543269" "subst" "0.000179087" "04206" "ABCA4_000307" "g.94543269G>A" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "" "" "0" "" "" "g.94077713G>A" "" "pathogenic (recessive)" ""
"0000899451" "1" "90" "1" "94506805" "94506805" "subst" "2.03051E-5" "04206" "ABCA4_001294" "g.94506805C>T" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94041249C>T" "" "pathogenic (recessive)" ""
"0000899452" "1" "90" "1" "94520830" "94520830" "subst" "0" "04206" "ABCA4_000727" "g.94520830G>C" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94055274G>C" "" "pathogenic (recessive)" ""
"0000899453" "1" "90" "1" "94486866" "94486866" "subst" "0" "04206" "ABCA4_001364" "g.94486866C>A" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94021310C>A" "" "pathogenic (recessive)" ""
"0000899454" "1" "90" "1" "94496605" "94496605" "del" "0" "04206" "ABCA4_001396" "g.94496605del" "" "{PMID:Tian 2024:37774808}" "" "4203delC" "" "Germline" "" "" "0" "" "" "g.94031049del" "" "pathogenic (recessive)" ""
"0000899455" "1" "90" "1" "94520830" "94520830" "subst" "0" "04206" "ABCA4_000727" "g.94520830G>C" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "" "" "0" "" "" "g.94055274G>C" "" "pathogenic (recessive)" ""
"0000899456" "1" "90" "1" "94528128" "94528128" "subst" "0" "04206" "ABCA4_001258" "g.94528128C>T" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94062572C>T" "" "pathogenic (recessive)" ""
"0000899457" "1" "90" "1" "94543278" "94543278" "subst" "0.000178952" "04206" "ABCA4_000004" "g.94543278G>A" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94077722G>A" "" "pathogenic (recessive)" ""
"0000899459" "1" "90" "1" "94578589" "94578594" "del" "0" "04206" "ABCA4_000249" "g.94578589_94578594del" "" "{PMID:Tian 2024:37774808}" "" "101_106delCTTTAT" "" "Germline" "yes" "" "0" "" "" "g.94113033_94113038del" "" "pathogenic (recessive)" ""
"0000899460" "1" "90" "1" "94544888" "94544888" "subst" "0" "04206" "ABCA4_001317" "g.94544888A>G" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94079332A>G" "" "pathogenic (recessive)" ""
"0000899461" "1" "90" "1" "94520830" "94520830" "subst" "0" "04206" "ABCA4_000727" "g.94520830G>C" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94055274G>C" "" "pathogenic (recessive)" ""
"0000899462" "1" "90" "1" "94528868" "94528868" "del" "0" "04206" "ABCA4_000304" "g.94528868del" "" "{PMID:Tian 2024:37774808}" "" "1561delG" "" "Germline" "yes" "" "0" "" "" "g.94063312del" "" "pathogenic (recessive)" ""
"0000899463" "1" "90" "1" "94480241" "94480241" "subst" "7.71705E-5" "04206" "ABCA4_000446" "g.94480241G>A" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94014685G>A" "" "pathogenic (recessive)" ""
"0000899464" "1" "90" "1" "94506923" "94506923" "subst" "2.43657E-5" "04206" "ABCA4_000012" "g.94506923C>T" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94041367C>T" "" "pathogenic (recessive)" ""
"0000899465" "1" "90" "1" "94485240" "94485240" "del" "0" "04206" "ABCA4_001731" "g.94485240del" "" "{PMID:Tian 2024:37774808}" "" "5095delC" "" "Germline" "yes" "" "0" "" "" "g.94019684del" "" "pathogenic (recessive)" ""
"0000899466" "1" "90" "1" "94488941" "94488941" "subst" "0" "04206" "ABCA4_001772" "g.94488941C>A" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94023385C>A" "" "pathogenic (recessive)" ""
"0000899467" "1" "90" "1" "94528868" "94528868" "del" "0" "04206" "ABCA4_000304" "g.94528868del" "" "{PMID:Tian 2024:37774808}" "" "1561delG" "" "Germline" "" "" "0" "" "" "g.94063312del" "" "pathogenic (recessive)" ""
"0000899468" "1" "90" "1" "94508366" "94508366" "del" "0" "04206" "ABCA4_001928" "g.94508366del" "" "{PMID:Tian 2024:37774808}" "" "3281delC" "" "Germline" "yes" "" "0" "" "" "g.94042810del" "" "pathogenic (recessive)" ""
"0000899469" "1" "90" "1" "94526199" "94526199" "del" "0" "04206" "ABCA4_001526" "g.94526199del" "" "{PMID:Tian 2024:37774808}" "" "2055delC" "" "Germline" "yes" "" "0" "" "" "g.94060643del" "" "pathogenic (recessive)" ""
"0000899470" "1" "90" "1" "94520662" "94520669" "del" "0" "04206" "ABCA4_002011" "g.94520662_94520669del" "" "{PMID:Tian 2024:37774808}" "" "2587_2587+7delGGTAAGCA" "" "Germline" "" "" "0" "" "" "g.94055106_94055113del" "" "pathogenic (recessive)" ""
"0000899471" "1" "90" "1" "94578638" "94578638" "subst" "0" "04206" "ABCA4_002245" "g.94578638A>T" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94113082A>T" "" "pathogenic (recessive)" ""
"0000899473" "1" "90" "1" "94502700" "94502700" "subst" "0" "04206" "ABCA4_001868" "g.94502700C>T" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94037144C>T" "" "pathogenic (recessive)" ""
"0000899474" "1" "70" "1" "94546174" "94546174" "subst" "0" "04206" "ABCA4_002151" "g.94546174G>C" "" "{PMID:Tian 2024:37774808}" "" "[959C>G;1017G>A]" "" "Germline" "yes" "" "0" "" "" "g.94080618G>C" "" "likely pathogenic (recessive)" ""
"0000899476" "3" "90" "1" "94578589" "94578594" "del" "0" "04206" "ABCA4_000249" "g.94578589_94578594del" "" "{PMID:Tian 2024:37774808}" "" "101_106delCTTTAT" "" "Germline" "yes" "" "0" "" "" "g.94113033_94113038del" "" "pathogenic (recessive)" ""
"0000899477" "1" "90" "1" "94546261" "94546261" "subst" "0.000648567" "04206" "ABCA4_000353" "g.94546261G>A" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94080705G>A" "" "pathogenic (recessive)" ""
"0000899478" "1" "90" "1" "94578618" "94578618" "subst" "0.000166918" "04206" "ABCA4_000252" "g.94578618C>T" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94113062C>T" "" "pathogenic (recessive)" ""
"0000899479" "1" "90" "1" "94577132" "94577132" "subst" "0" "04206" "ABCA4_000239" "g.94577132T>C" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94111576T>C" "" "pathogenic (recessive)" ""
"0000899480" "1" "90" "1" "94578589" "94578594" "del" "0" "04206" "ABCA4_000249" "g.94578589_94578594del" "" "{PMID:Tian 2024:37774808}" "" "101_106delCTTTAT" "" "Germline" "" "" "0" "" "" "g.94113033_94113038del" "" "pathogenic (recessive)" ""
"0000899481" "1" "90" "1" "94487404" "94487404" "subst" "0.00244055" "04206" "ABCA4_000497" "g.94487404C>T" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94021848C>T" "" "pathogenic (recessive)" ""
"0000899482" "3" "90" "1" "94506811" "94506811" "subst" "0" "04206" "ABCA4_001295" "g.94506811A>G" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94041255A>G" "" "pathogenic (recessive)" ""
"0000899485" "1" "90" "1" "94568588" "94568588" "subst" "0" "04206" "ABCA4_002200" "g.94568588G>A" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "" "" "0" "" "" "g.94103032G>A" "" "pathogenic (recessive)" ""
"0000899487" "1" "90" "1" "94506867" "94506867" "subst" "0" "04206" "ABCA4_001296" "g.94506867G>C" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "" "" "0" "" "" "g.94041311G>C" "" "pathogenic (recessive)" ""
"0000899488" "1" "90" "1" "94548906" "94548906" "subst" "0" "04206" "ABCA4_000358" "g.94548906A>T" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94083350A>T" "" "pathogenic (recessive)" ""
"0000899489" "1" "90" "1" "94495181" "94495181" "subst" "0" "04206" "ABCA4_001816" "g.94495181G>T" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94029625G>T" "" "pathogenic (recessive)" ""
"0000899490" "1" "90" "1" "94528868" "94528868" "del" "0" "04206" "ABCA4_000304" "g.94528868del" "" "{PMID:Tian 2024:37774808}" "" "1561delG" "" "Germline" "" "" "0" "" "" "g.94063312del" "" "pathogenic (recessive)" ""
"0000899492" "1" "90" "1" "94564399" "94564399" "subst" "0" "04206" "ABCA4_001412" "g.94564399A>C" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94098843A>C" "" "pathogenic (recessive)" ""
"0000899493" "1" "90" "1" "94471056" "94471056" "subst" "2.84398E-5" "04206" "ABCA4_000050" "g.94471056G>A" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94005500G>A" "" "pathogenic (recessive)" ""
"0000899494" "1" "90" "1" "94577055" "94577056" "del" "0" "04206" "ABCA4_000229" "g.94577055_94577056del" "" "{PMID:Tian 2024:37774808}" "" "240_241delCT" "" "Germline" "yes" "" "0" "" "" "g.94111499_94111500del" "" "pathogenic (recessive)" ""
"0000899495" "1" "90" "1" "94496548" "94496548" "subst" "2.43787E-5" "04206" "ABCA4_000088" "g.94496548G>A" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94030992G>A" "" "pathogenic (recessive)" ""
"0000899496" "1" "90" "1" "94508455" "94508455" "subst" "8.12434E-6" "04206" "ABCA4_000649" "g.94508455C>A" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94042899C>A" "" "pathogenic (recessive)" ""
"0000899497" "1" "90" "1" "94486895" "94486895" "subst" "3.24923E-5" "04206" "ABCA4_000484" "g.94486895C>T" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94021339C>T" "" "pathogenic (recessive)" ""
"0000899498" "1" "90" "1" "94520830" "94520830" "subst" "0" "04206" "ABCA4_000727" "g.94520830G>C" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94055274G>C" "" "pathogenic (recessive)" ""
"0000899499" "1" "90" "1" "94586549" "94586549" "subst" "0" "04206" "ABCA4_001329" "g.94586549C>G" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94120993C>G" "" "pathogenic (recessive)" ""
"0000899500" "1" "90" "1" "94528868" "94528868" "del" "0" "04206" "ABCA4_000304" "g.94528868del" "" "{PMID:Tian 2024:37774808}" "" "1561delG" "" "Germline" "yes" "" "0" "" "" "g.94063312del" "" "pathogenic (recessive)" ""
"0000899501" "1" "90" "1" "94528292" "94528292" "subst" "0" "04206" "ABCA4_002084" "g.94528292G>A" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94062736G>A" "" "pathogenic (recessive)" ""
"0000899502" "1" "90" "1" "94508322" "94508322" "subst" "1.62513E-5" "04206" "ABCA4_000128" "g.94508322C>T" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94042766C>T" "" "pathogenic (recessive)" ""
"0000899503" "1" "90" "1" "94520830" "94520830" "subst" "0" "04206" "ABCA4_000727" "g.94520830G>C" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94055274G>C" "" "pathogenic (recessive)" ""
"0000899504" "1" "70" "1" "94546150" "94546150" "subst" "4.06828E-6" "04206" "ABCA4_000346" "g.94546150T>A" "" "{PMID:Groselj 2012:22513348}" "" "[983A>T;3106G>A]" "" "Germline" "yes" "" "0" "" "" "g.94080594T>A" "" "likely pathogenic (recessive)" ""
"0000899505" "1" "90" "1" "94528868" "94528868" "del" "0" "04206" "ABCA4_000304" "g.94528868del" "" "{PMID:Tian 2024:37774808}" "" "1561delG" "" "Germline" "yes" "" "0" "" "" "g.94063312del" "" "pathogenic (recessive)" ""
"0000899506" "1" "90" "1" "94528819" "94528819" "subst" "2.03128E-5" "04206" "ABCA4_000078" "g.94528819G>A" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "" "" "0" "" "" "g.94063263G>A" "" "pathogenic (recessive)" ""
"0000899507" "1" "90" "1" "94512499" "94512499" "subst" "0.000130029" "04206" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94046943T>C" "" "pathogenic (recessive)" ""
"0000899508" "1" "90" "1" "94506867" "94506867" "subst" "0" "04206" "ABCA4_001296" "g.94506867G>C" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94041311G>C" "" "pathogenic (recessive)" ""
"0000899509" "1" "90" "1" "94520830" "94520830" "subst" "0" "04206" "ABCA4_000727" "g.94520830G>C" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "" "" "0" "" "" "g.94055274G>C" "" "pathogenic (recessive)" ""
"0000899510" "3" "90" "1" "94520830" "94520830" "subst" "0" "04206" "ABCA4_000727" "g.94520830G>C" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94055274G>C" "" "pathogenic (recessive)" ""
"0000899511" "1" "90" "1" "94546033" "94546033" "subst" "0" "04206" "ABCA4_000335" "g.94546033C>T" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94080477C>T" "" "pathogenic (recessive)" ""
"0000899512" "1" "90" "1" "94578589" "94578594" "del" "0" "04206" "ABCA4_000249" "g.94578589_94578594del" "" "{PMID:Tian 2024:37774808}" "" "101_106delCTTTAT" "" "Germline" "yes" "" "0" "" "" "g.94113033_94113038del" "" "pathogenic (recessive)" ""
"0000899513" "1" "90" "1" "94528868" "94528868" "del" "0" "04206" "ABCA4_000304" "g.94528868del" "" "{PMID:Tian 2024:37774808}" "" "1561delG" "" "Germline" "yes" "" "0" "" "" "g.94063312del" "" "pathogenic (recessive)" ""
"0000899514" "3" "90" "1" "94578589" "94578594" "del" "0" "04206" "ABCA4_000249" "g.94578589_94578594del" "" "{PMID:Tian 2024:37774808}" "" "101_106delCTTTAT" "" "Germline" "yes" "" "0" "" "" "g.94113033_94113038del" "" "pathogenic (recessive)" ""
"0000899516" "1" "90" "1" "94577132" "94577132" "subst" "0" "04206" "ABCA4_000239" "g.94577132T>C" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94111576T>C" "" "pathogenic (recessive)" ""
"0000899517" "1" "70" "1" "94543269" "94543269" "subst" "0.000179087" "04206" "ABCA4_000307" "g.94543269G>A" "" "{PMID:Tian 2024:37774808}" "" "[1531C>T;6127C>T]" "" "Germline" "yes" "" "0" "" "" "g.94077713G>A" "" "likely pathogenic (recessive)" ""
"0000899518" "1" "90" "1" "94496547" "94496547" "subst" "1.21904E-5" "04206" "ABCA4_000560" "g.94496547C>T" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94030991C>T" "" "pathogenic (recessive)" ""
"0000899519" "1" "70" "1" "94528137" "94528137" "subst" "2.03363E-5" "04206" "ABCA4_000774" "g.94528137C>T" "" "{PMID:Tian 2024:37774808}" "" "[1933G>A;6119G>A]" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.94062581C>T" "" "likely pathogenic (recessive)" ""
"0000899520" "1" "90" "1" "94506867" "94506867" "subst" "0" "04206" "ABCA4_001296" "g.94506867G>C" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94041311G>C" "" "pathogenic (recessive)" ""
"0000899521" "1" "90" "1" "94520807" "94520807" "subst" "0" "04206" "ABCA4_002026" "g.94520807C>A" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "" "" "0" "" "" "g.94055251C>A" "" "pathogenic (recessive)" ""
"0000899522" "1" "90" "1" "94577081" "94577081" "subst" "0" "04206" "ABCA4_002228" "g.94577081C>A" "" "{PMID:Groselj 2012:22513348}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94111525C>A" "" "pathogenic (recessive)" ""
"0000899523" "3" "90" "1" "94506923" "94506923" "subst" "2.43657E-5" "04206" "ABCA4_000012" "g.94506923C>T" "" "{PMID:Groselj 2012:22513348}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94041367C>T" "" "pathogenic (recessive)" ""
"0000899524" "3" "90" "1" "94522157" "94522157" "subst" "0" "04206" "ABCA4_002034" "g.94522157C>G" "" "{PMID:Groselj 2012:22513348}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94056601C>G" "" "pathogenic (recessive)" ""
"0000899525" "1" "90" "1" "94512499" "94512499" "subst" "0.000130029" "04206" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "" "" "0" "" "" "g.94046943T>C" "" "pathogenic (recessive)" ""
"0000899526" "1" "90" "1" "94577006" "94577006" "subst" "8.13511E-6" "04206" "ABCA4_001324" "g.94577006T>C" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94111450T>C" "" "pathogenic (recessive)" ""
"0000899527" "3" "90" "1" "94578532" "94578532" "subst" "4.06141E-6" "04206" "ABCA4_002238" "g.94578532C>A" "" "{PMID:Groselj 2012:22513348}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94112976C>A" "" "pathogenic (recessive)" ""
"0000899528" "1" "90" "1" "94543269" "94543269" "subst" "0.000179087" "04206" "ABCA4_000307" "g.94543269G>A" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "" "" "0" "" "" "g.94077713G>A" "" "pathogenic (recessive)" ""
"0000899529" "1" "90" "1" "94467506" "94467506" "subst" "3.24913E-5" "04206" "ABCA4_000785" "g.94467506C>T" "" "{PMID:Groselj 2012:22513348}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94001950C>T" "" "pathogenic (recessive)" ""
"0000899530" "1" "90" "1" "94586560" "94586560" "subst" "0" "04206" "ABCA4_001330" "g.94586560G>T" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "" "" "0" "" "" "g.94121004G>T" "" "pathogenic (recessive)" ""
"0000899532" "1" "90" "1" "94564466" "94564466" "subst" "0" "04206" "ABCA4_002185" "g.94564466G>A" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94098910G>A" "" "pathogenic (recessive)" ""
"0000899533" "1" "90" "1" "94509026" "94509026" "subst" "4.06497E-5" "04206" "ABCA4_000660" "g.94509026G>A" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94043470G>A" "" "pathogenic (recessive)" ""
"0000899534" "1" "90" "1" "94586580" "94586580" "subst" "0" "04206" "ABCA4_000260" "g.94586580G>A" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94121024G>A" "" "pathogenic (recessive)" ""
"0000899535" "1" "90" "1" "94543278" "94543278" "subst" "0.000178952" "04206" "ABCA4_000004" "g.94543278G>A" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94077722G>A" "" "pathogenic (recessive)" ""
"0000899536" "1" "70" "1" "94546150" "94546150" "subst" "4.06828E-6" "04206" "ABCA4_000346" "g.94546150T>A" "" "{PMID:Tian 2024:37774808}" "" "[983A>T;5527C>T]" "" "Germline" "yes" "" "0" "" "" "g.94080594T>A" "" "likely pathogenic (recessive)" ""
"0000899537" "1" "90" "1" "94586549" "94586549" "subst" "0" "04206" "ABCA4_001329" "g.94586549C>G" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94120993C>G" "" "pathogenic (recessive)" ""
"0000899538" "3" "90" "1" "94505684" "94505684" "del" "0" "04206" "ABCA4_001892" "g.94505684del" "" "{PMID:Tian 2024:37774808}" "" "3525delG" "" "Germline" "yes" "" "0" "" "" "g.94040128del" "" "pathogenic (recessive)" ""
"0000899539" "1" "90" "1" "94506805" "94506805" "subst" "2.03051E-5" "04206" "ABCA4_001294" "g.94506805C>T" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94041249C>T" "" "pathogenic (recessive)" ""
"0000899541" "1" "90" "1" "94546099" "94546099" "subst" "0" "04206" "ABCA4_001390" "g.94546099T>G" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94080543T>G" "" "pathogenic (recessive)" ""
"0000899542" "1" "90" "1" "94528868" "94528868" "del" "0" "04206" "ABCA4_000304" "g.94528868del" "" "{PMID:Tian 2024:37774808}" "" "1561delG" "" "Germline" "yes" "" "0" "" "" "g.94063312del" "" "pathogenic (recessive)" ""
"0000899543" "1" "90" "1" "94522278" "94522278" "subst" "0" "04206" "ABCA4_001306" "g.94522278A>G" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "" "" "0" "" "" "g.94056722A>G" "" "pathogenic (recessive)" ""
"0000899544" "1" "90" "1" "94520830" "94520830" "subst" "0" "04206" "ABCA4_000727" "g.94520830G>C" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94055274G>C" "" "pathogenic (recessive)" ""
"0000899545" "3" "90" "1" "94476427" "94476429" "del" "0" "04206" "ABCA4_002417" "g.94476427_94476429del" "" "{PMID:Tian 2024:37774808}" "" "5641_5643delGCC" "" "Germline" "yes" "" "0" "" "" "g.94010871_94010873del" "" "pathogenic (recessive)" ""
"0000899546" "1" "90" "1" "94512499" "94512499" "subst" "0.000130029" "04206" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94046943T>C" "" "pathogenic (recessive)" ""
"0000899547" "1" "90" "1" "94578589" "94578594" "del" "0" "04206" "ABCA4_000249" "g.94578589_94578594del" "" "{PMID:Groselj 2012:22513348}" "" "101_106delCTTTAT" "" "Germline" "yes" "" "0" "" "" "g.94113033_94113038del" "" "pathogenic (recessive)" ""
"0000899548" "1" "90" "1" "94528868" "94528868" "del" "0" "04206" "ABCA4_000304" "g.94528868del" "" "{PMID:Groselj 2012:22513348}" "" "1561delG" "" "Germline" "yes" "" "0" "" "" "g.94063312del" "" "pathogenic (recessive)" ""
"0000899549" "1" "90" "1" "94564549" "94564549" "subst" "0" "04206" "ABCA4_000198" "g.94564549T>C" "" "{PMID:Groselj 2012:22513348}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94098993T>C" "" "pathogenic (recessive)" ""
"0000899550" "1" "90" "1" "94544184" "94544184" "del" "0" "04206" "ABCA4_001381" "g.94544184del" "" "{PMID:Tian 2024:37774808}" "" "1318delT" "" "Germline" "yes" "" "0" "" "" "g.94078628del" "" "pathogenic (recessive)" ""
"0000899551" "1" "90" "1" "94546127" "94546127" "del" "0" "04206" "ABCA4_001320" "g.94546127del" "" "{PMID:Tian 2024:37774808}" "" "1006delT" "" "Germline" "yes" "" "0" "" "" "g.94080571del" "" "pathogenic (recessive)" ""
"0000899552" "1" "90" "1" "94520830" "94520830" "subst" "0" "04206" "ABCA4_000727" "g.94520830G>C" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94055274G>C" "" "pathogenic (recessive)" ""
"0000899553" "1" "90" "1" "94577093" "94577093" "subst" "8.12394E-6" "04206" "ABCA4_000147" "g.94577093G>A" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94111537G>A" "" "pathogenic (recessive)" ""
"0000899554" "3" "90" "1" "94486922" "94486922" "subst" "0" "04206" "ABCA4_000044" "g.94486922A>G" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94021366A>G" "" "pathogenic (recessive)" ""
"0000899555" "1" "90" "1" "94546099" "94546099" "subst" "0" "04206" "ABCA4_001389" "g.94546099T>C" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94080543T>C" "" "pathogenic (recessive)" ""
"0000899556" "1" "90" "1" "94508978" "94508978" "del" "0" "04206" "ABCA4_002337" "g.94508978del" "" "{PMID:Tian 2024:37774808}" "" "3104delA" "" "Germline" "yes" "" "0" "" "" "g.94043422del" "" "pathogenic (recessive)" ""
"0000899557" "1" "90" "1" "94586549" "94586549" "subst" "0" "04206" "ABCA4_001329" "g.94586549C>G" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94120993C>G" "" "pathogenic (recessive)" ""
"0000899558" "1" "90" "1" "94574175" "94574175" "subst" "0" "04206" "ABCA4_000214" "g.94574175G>A" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94108619G>A" "" "pathogenic (recessive)" ""
"0000899560" "1" "90" "1" "94564500" "94564517" "dup" "0" "04206" "ABCA4_001395" "g.94564500_94564517dup" "" "{PMID:Tian 2024:37774808}" "" "601_618dupAAGGACATCGCCTGCAGC" "" "Germline" "yes" "" "0" "" "" "g.94098944_94098961dup" "" "pathogenic (recessive)" ""
"0000899561" "1" "90" "1" "94544895" "94544895" "subst" "1.62455E-5" "04206" "ABCA4_000329" "g.94544895G>A" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94079339G>A" "" "pathogenic (recessive)" ""
"0000899562" "1" "90" "1" "94520830" "94520830" "subst" "0" "04206" "ABCA4_000727" "g.94520830G>C" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94055274G>C" "" "pathogenic (recessive)" ""
"0000899563" "1" "90" "1" "94495983" "94495983" "subst" "8.12348E-6" "04206" "ABCA4_000547" "g.94495983C>T" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94030427C>T" "" "pathogenic (recessive)" ""
"0000899564" "3" "90" "1" "94466393" "94466393" "subst" "0" "04206" "ABCA4_002413" "g.94466393T>A" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94000837T>A" "" "pathogenic (recessive)" ""
"0000899565" "3" "90" "1" "94471022" "94471022" "subst" "0" "04206" "ABCA4_001619" "g.94471022C>A" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94005466C>A" "" "pathogenic (recessive)" ""
"0000899566" "1" "90" "1" "94510303" "94510304" "ins" "0" "04206" "ABCA4_001304" "g.94510303_94510304insTGTTTGGACCTG" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94044747_94044748insTGTTTGGACCTG" "" "pathogenic (recessive)" ""
"0000899567" "1" "90" "1" "94578589" "94578594" "del" "0" "04206" "ABCA4_000249" "g.94578589_94578594del" "" "{PMID:Tian 2024:37774808}" "" "101_106delCTTTAT" "" "Germline" "yes" "" "0" "" "" "g.94113033_94113038del" "" "pathogenic (recessive)" ""
"0000899568" "1" "90" "1" "94528831" "94528831" "subst" "0" "04206" "ABCA4_002103" "g.94528831G>A" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94063275G>A" "" "pathogenic (recessive)" ""
"0000899569" "1" "90" "1" "94544957" "94544957" "subst" "0" "04206" "ABCA4_001363" "g.94544957C>T" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94079401C>T" "" "pathogenic (recessive)" ""
"0000899570" "1" "90" "1" "94544895" "94544895" "subst" "1.62455E-5" "04206" "ABCA4_000329" "g.94544895G>A" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "" "" "0" "" "" "g.94079339G>A" "" "pathogenic (recessive)" ""
"0000899571" "1" "90" "1" "94480241" "94480241" "subst" "7.71705E-5" "04206" "ABCA4_000446" "g.94480241G>A" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94014685G>A" "" "pathogenic (recessive)" ""
"0000899572" "1" "90" "1" "94577132" "94577132" "subst" "0" "04206" "ABCA4_000239" "g.94577132T>C" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94111576T>C" "" "pathogenic (recessive)" ""
"0000899574" "1" "90" "1" "94528740" "94528740" "subst" "0" "04206" "ABCA4_002445" "g.94528740A>C" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94063184A>C" "" "pathogenic (recessive)" ""
"0000899575" "1" "90" "1" "94497393" "94497393" "subst" "2.04188E-5" "04206" "ABCA4_000578" "g.94497393C>T" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94031837C>T" "" "pathogenic (recessive)" ""
"0000899576" "1" "90" "1" "94546276" "94546276" "subst" "4.08644E-6" "04206" "ABCA4_002156" "g.94546276T>C" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94080720T>C" "" "pathogenic (recessive)" ""
"0000899577" "1" "90" "1" "94512499" "94512499" "subst" "0.000130029" "04206" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94046943T>C" "" "pathogenic (recessive)" ""
"0000899578" "1" "90" "1" "94564378" "94564378" "subst" "0" "04206" "ABCA4_000368" "g.94564378T>A" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94098822T>A" "" "pathogenic (recessive)" ""
"0000899579" "1" "90" "1" "94574256" "94574256" "subst" "2.8425E-5" "04206" "ABCA4_000040" "g.94574256G>A" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "" "" "0" "" "" "g.94108700G>A" "" "pathogenic (recessive)" ""
"0000899580" "1" "90" "1" "94544895" "94544895" "subst" "1.62455E-5" "04206" "ABCA4_000329" "g.94544895G>A" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94079339G>A" "" "pathogenic (recessive)" ""
"0000899581" "3" "90" "1" "94496666" "94496666" "subst" "0.000219568" "04206" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94031110G>A" "" "pathogenic (recessive)" ""
"0000899582" "3" "90" "1" "94578589" "94578594" "del" "0" "04206" "ABCA4_000249" "g.94578589_94578594del" "" "{PMID:Tian 2024:37774808}" "" "101_106delCTTTAT" "" "Germline" "yes" "" "0" "" "" "g.94113033_94113038del" "" "pathogenic (recessive)" ""
"0000899583" "1" "90" "1" "94544877" "94544877" "subst" "0" "04206" "ABCA4_001477" "g.94544877C>T" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94079321C>T" "" "pathogenic (recessive)" ""
"0000899584" "1" "90" "1" "94487427" "94487427" "subst" "8.12176E-6" "04206" "ABCA4_001339" "g.94487427A>G" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "" "" "0" "" "" "g.94021871A>G" "" "pathogenic (recessive)" ""
"0000899585" "1" "90" "1" "94471094" "94471094" "subst" "0" "04206" "ABCA4_001629" "g.94471094C>T" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94005538C>T" "" "pathogenic (recessive)" ""
"0000899586" "1" "90" "1" "94546150" "94546150" "subst" "4.06828E-6" "04206" "ABCA4_000346" "g.94546150T>A" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94080594T>A" "" "pathogenic (recessive)" ""
"0000899587" "1" "90" "1" "94506867" "94506867" "subst" "0" "04206" "ABCA4_001296" "g.94506867G>C" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94041311G>C" "" "pathogenic (recessive)" ""
"0000899588" "1" "90" "1" "94568625" "94568625" "del" "0" "04206" "ABCA4_000206" "g.94568625del" "" "{PMID:Tian 2024:37774808}" "" "517delC" "" "Germline" "yes" "" "0" "" "" "g.94103069del" "" "pathogenic (recessive)" ""
"0000899589" "1" "90" "1" "94548906" "94548906" "subst" "0" "04206" "ABCA4_000358" "g.94548906A>T" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94083350A>T" "" "pathogenic (recessive)" ""
"0000899590" "1" "90" "1" "94577135" "94577135" "subst" "4.06197E-6" "04206" "ABCA4_000241" "g.94577135C>A" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94111579C>A" "" "pathogenic (recessive)" ""
"0000899591" "1" "90" "1" "94564402" "94564402" "subst" "4.06118E-6" "04206" "ABCA4_002178" "g.94564402C>T" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94098846C>T" "" "pathogenic (recessive)" ""
"0000899592" "3" "90" "1" "94471032" "94471032" "subst" "1.62553E-5" "04206" "ABCA4_000792" "g.94471032G>A" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94005476G>A" "" "pathogenic (recessive)" ""
"0000899593" "1" "90" "1" "94564402" "94564402" "subst" "4.06118E-6" "04206" "ABCA4_002178" "g.94564402C>T" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94098846C>T" "" "pathogenic (recessive)" ""
"0000899594" "3" "90" "1" "94520830" "94520830" "subst" "0" "04206" "ABCA4_000727" "g.94520830G>C" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94055274G>C" "" "pathogenic (recessive)" ""
"0000899595" "1" "90" "1" "94520816" "94520816" "subst" "0" "04206" "ABCA4_002442" "g.94520816T>A" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94055260T>A" "" "pathogenic (recessive)" ""
"0000899597" "1" "90" "1" "94502907" "94502907" "subst" "0" "04206" "ABCA4_001883" "g.94502907C>G" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94037351C>G" "" "pathogenic (recessive)" ""
"0000899599" "1" "70" "1" "94528137" "94528137" "subst" "2.03363E-5" "04206" "ABCA4_000774" "g.94528137C>T" "" "{PMID:Tian 2024:37774808}" "" "[1933G>A;5501T>C]" "" "Germline" "yes" "" "0" "" "" "g.94062581C>T" "" "likely pathogenic (recessive)" ""
"0000899600" "1" "90" "1" "94528868" "94528868" "del" "0" "04206" "ABCA4_000304" "g.94528868del" "" "{PMID:Tian 2024:37774808}" "" "1561delG" "" "Germline" "yes" "" "0" "" "" "g.94063312del" "" "pathogenic (recessive)" ""
"0000899601" "1" "90" "1" "94486908" "94486910" "del" "0" "04206" "ABCA4_002425" "g.94486908_94486910del" "" "{PMID:Tian 2024:37774808}" "" "4906_4908delAAC" "" "Germline" "yes" "" "0" "" "" "g.94021352_94021354del" "" "pathogenic (recessive)" ""
"0000899602" "1" "90" "1" "94510198" "94510199" "del" "0" "04206" "ABCA4_002438" "g.94510198_94510199del" "" "{PMID:Tian 2024:37774808}" "" "3023_3024delGT" "" "Germline" "yes" "" "0" "" "" "g.94044642_94044643del" "" "pathogenic (recessive)" ""
"0000899603" "1" "90" "1" "94502702" "94502702" "del" "0" "04206" "ABCA4_000596" "g.94502702del" "" "{PMID:Tian 2024:37774808}" "" "3812delA" "" "Germline" "yes" "" "0" "" "" "g.94037146del" "" "pathogenic (recessive)" ""
"0000899605" "1" "90" "1" "94522284" "94522284" "subst" "0" "04206" "ABCA4_002443" "g.94522284C>A" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94056728C>A" "" "pathogenic (recessive)" ""
"0000899606" "1" "90" "1" "94528749" "94528749" "del" "0" "04206" "ABCA4_002092" "g.94528749del" "" "{PMID:Tian 2024:37774808}" "" "1680delC" "" "Germline" "yes" "" "0" "" "" "g.94063193del" "" "pathogenic (recessive)" ""
"0000899607" "1" "90" "1" "94512522" "94512542" "del" "0" "04206" "ABCA4_001113" "g.94512522_94512542del" "" "{PMID:Tian 2024:37774808}" "" "2857_2877delTTCTACGAGAACCAGATCACC" "" "Germline" "yes" "" "0" "" "" "g.94046966_94046986del" "" "pathogenic (recessive)" ""
"0000899608" "1" "90" "1" "94512470" "94512470" "subst" "0" "04206" "ABCA4_001974" "g.94512470C>T" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "" "" "0" "" "" "g.94046914C>T" "" "pathogenic (recessive)" ""
"0000899610" "1" "90" "1" "94471056" "94471056" "subst" "2.84398E-5" "04206" "ABCA4_000050" "g.94471056G>A" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94005500G>A" "" "pathogenic (recessive)" ""
"0000899611" "1" "90" "1" "94512499" "94512499" "subst" "0.000130029" "04206" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94046943T>C" "" "pathogenic (recessive)" ""
"0000899613" "1" "90" "1" "94528714" "94528714" "subst" "0" "04206" "ABCA4_000296" "g.94528714G>A" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94063158G>A" "" "pathogenic (recessive)" ""
"0000899615" "1" "90" "1" "94528251" "94528251" "subst" "0" "04206" "ABCA4_000283" "g.94528251C>A" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94062695C>A" "" "pathogenic (recessive)" ""
"0000899616" "1" "90" "1" "94544895" "94544895" "subst" "1.62455E-5" "04206" "ABCA4_000329" "g.94544895G>A" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94079339G>A" "" "pathogenic (recessive)" ""
"0000899617" "1" "90" "1" "94522157" "94522157" "subst" "0" "04206" "ABCA4_002034" "g.94522157C>G" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94056601C>G" "" "pathogenic (recessive)" ""
"0000899618" "1" "90" "1" "94528868" "94528868" "del" "0" "04206" "ABCA4_000304" "g.94528868del" "" "{PMID:Tian 2024:37774808}" "" "1561delG" "" "Germline" "yes" "" "0" "" "" "g.94063312del" "" "pathogenic (recessive)" ""
"0000899619" "1" "90" "1" "94578589" "94578594" "del" "0" "04206" "ABCA4_000249" "g.94578589_94578594del" "" "{PMID:Tian 2024:37774808}" "" "101_106delCTTTAT" "" "Germline" "yes" "" "0" "" "" "g.94113033_94113038del" "" "pathogenic (recessive)" ""
"0000899620" "1" "90" "1" "94466477" "94466477" "subst" "0" "04206" "ABCA4_001577" "g.94466477C>A" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94000921C>A" "" "pathogenic (recessive)" ""
"0000899621" "1" "90" "1" "94506867" "94506867" "subst" "0" "04206" "ABCA4_001296" "g.94506867G>C" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94041311G>C" "" "pathogenic (recessive)" ""
"0000899623" "1" "90" "1" "94528868" "94528868" "del" "0" "04206" "ABCA4_000304" "g.94528868del" "" "{PMID:Tian 2024:37774808}" "" "1561delG" "" "Germline" "yes" "" "0" "" "" "g.94063312del" "" "pathogenic (recessive)" ""
"0000899624" "1" "90" "1" "94512499" "94512499" "subst" "0.000130029" "04206" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94046943T>C" "" "pathogenic (recessive)" ""
"0000899626" "1" "90" "1" "94528868" "94528868" "del" "0" "04206" "ABCA4_000304" "g.94528868del" "" "{PMID:Tian 2024:37774808}" "" "1561delG" "" "Germline" "yes" "" "0" "" "" "g.94063312del" "" "pathogenic (recessive)" ""
"0000899627" "1" "70" "1" "94546150" "94546150" "subst" "4.06828E-6" "04206" "ABCA4_000346" "g.94546150T>A" "" "{PMID:Tian 2024:37774808}" "" "[983A>T;3106G>A]" "" "Germline" "yes" "" "0" "" "" "g.94080594T>A" "" "likely pathogenic (recessive)" ""
"0000899628" "1" "90" "1" "94576997" "94576997" "subst" "0" "04206" "ABCA4_002452" "g.94576997G>A" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94111441G>A" "" "pathogenic (recessive)" ""
"0000899629" "1" "90" "1" "94506867" "94506867" "subst" "0" "04206" "ABCA4_001296" "g.94506867G>C" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94041311G>C" "" "pathogenic (recessive)" ""
"0000899630" "1" "70" "1" "94546033" "94546033" "subst" "0" "04206" "ABCA4_000335" "g.94546033C>T" "" "{PMID:Tian 2024:37774808}" "" "[1099+1G>A;6119G>A]" "" "Germline" "yes" "" "0" "" "" "g.94080477C>T" "" "likely pathogenic (recessive)" ""
"0000899631" "1" "90" "1" "94544895" "94544895" "subst" "1.62455E-5" "04206" "ABCA4_000329" "g.94544895G>A" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94079339G>A" "" "pathogenic (recessive)" ""
"0000899632" "1" "90" "1" "94497564" "94497564" "subst" "1.64383E-5" "04206" "ABCA4_000091" "g.94497564G>A" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94032008G>A" "" "pathogenic (recessive)" ""
"0000899633" "1" "90" "1" "94476351" "94476351" "subst" "0.000296608" "04206" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94010795C>T" "" "pathogenic (recessive)" ""
"0000899634" "1" "90" "1" "94528132" "94528132" "subst" "0" "04206" "ABCA4_000977" "g.94528132C>A" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94062576C>A" "" "pathogenic (recessive)" ""
"0000899635" "1" "90" "1" "94486919" "94486919" "subst" "0" "04206" "ABCA4_002426" "g.94486919T>A" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94021363T>A" "" "pathogenic (recessive)" ""
"0000899636" "1" "70" "1" "94546150" "94546150" "subst" "4.06828E-6" "04206" "ABCA4_000346" "g.94546150T>A" "" "{PMID:Tian 2024:37774808}" "" "[983A>T;3106G>A]" "" "Germline" "yes" "" "0" "" "" "g.94080594T>A" "" "likely pathogenic (recessive)" ""
"0000899637" "1" "90" "1" "94528780" "94528780" "subst" "4.06171E-6" "04206" "ABCA4_000299" "g.94528780C>T" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94063224C>T" "" "pathogenic (recessive)" ""
"0000899639" "1" "90" "1" "94577135" "94577135" "subst" "4.06197E-6" "04206" "ABCA4_000241" "g.94577135C>A" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94111579C>A" "" "pathogenic (recessive)" ""
"0000899640" "1" "90" "1" "94485137" "94485137" "subst" "0" "04206" "ABCA4_002422" "g.94485137C>G" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94019581C>G" "" "pathogenic (recessive)" ""
"0000899641" "1" "90" "1" "94526186" "94526186" "del" "0" "04206" "ABCA4_000754" "g.94526186del" "" "{PMID:Tian 2024:37774808}" "" "2069delG" "" "Germline" "yes" "" "0" "" "" "g.94060630del" "" "pathogenic (recessive)" ""
"0000899642" "1" "90" "1" "94528146" "94528146" "subst" "0" "04206" "ABCA4_000775" "g.94528146A>T" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94062590A>T" "" "pathogenic (recessive)" ""
"0000899644" "3" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "04206" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94062710G>A" "" "pathogenic (recessive)" ""
"0000899646" "1" "90" "1" "94506819" "94506819" "subst" "0" "04206" "ABCA4_001426" "g.94506819G>C" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94041263G>C" "" "pathogenic (recessive)" ""
"0000899647" "1" "90" "1" "94466391" "94466391" "subst" "0" "04206" "ABCA4_000814" "g.94466391C>T" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94000835C>T" "" "pathogenic (recessive)" ""
"0000899648" "1" "90" "1" "94578589" "94578594" "del" "0" "04206" "ABCA4_000249" "g.94578589_94578594del" "" "{PMID:Tian 2024:37774808}" "" "101_106delCTTTAT" "" "Germline" "yes" "" "0" "" "" "g.94113033_94113038del" "" "pathogenic (recessive)" ""
"0000899649" "1" "70" "1" "94546150" "94546150" "subst" "4.06828E-6" "04206" "ABCA4_000346" "g.94546150T>A" "" "{PMID:Tian 2024:37774808}" "" "[983A>T;3106G>A]" "" "Germline" "yes" "" "0" "" "" "g.94080594T>A" "" "likely pathogenic (recessive)" ""
"0000899650" "1" "90" "1" "94520830" "94520830" "subst" "0" "04206" "ABCA4_000727" "g.94520830G>C" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94055274G>C" "" "pathogenic (recessive)" ""
"0000899651" "3" "90" "1" "94578589" "94578594" "del" "0" "04206" "ABCA4_000249" "g.94578589_94578594del" "" "{PMID:Tian 2024:37774808}" "" "101_106delCTTTAT" "" "Germline" "yes" "" "0" "" "" "g.94113033_94113038del" "" "pathogenic (recessive)" ""
"0000899653" "1" "90" "1" "94546127" "94546127" "del" "0" "04206" "ABCA4_001320" "g.94546127del" "" "{PMID:Tian 2024:37774808}" "" "1006delT" "" "Germline" "yes" "" "0" "" "" "g.94080571del" "" "pathogenic (recessive)" ""
"0000899655" "1" "90" "1" "94471056" "94471056" "subst" "2.84398E-5" "04206" "ABCA4_000050" "g.94471056G>A" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94005500G>A" "" "pathogenic (recessive)" ""
"0000899656" "1" "70" "1" "94578606" "94578606" "subst" "0" "04206" "ABCA4_002454" "g.94578606T>G" "" "{PMID:Tian 2024:37774808}" "" "[83A>C;1610G>A]" "" "Germline" "yes" "" "0" "" "" "g.94113050T>G" "" "likely pathogenic (recessive)" ""
"0000899657" "1" "90" "1" "94471094" "94471094" "subst" "0" "04206" "ABCA4_001629" "g.94471094C>T" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94005538C>T" "" "pathogenic (recessive)" ""
"0000899658" "1" "90" "1" "94471139" "94471139" "subst" "0" "04206" "ABCA4_001372" "g.94471139C>T" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94005583C>T" "" "pathogenic (recessive)" ""
"0000899659" "1" "90" "1" "94586549" "94586549" "subst" "0" "04206" "ABCA4_001028" "g.94586549C>T" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94120993C>T" "" "pathogenic (recessive)" ""
"0000899661" "1" "90" "1" "94577118" "94577118" "subst" "0" "04206" "ABCA4_000185" "g.94577118C>T" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94111562C>T" "" "pathogenic (recessive)" ""
"0000899662" "1" "90" "1" "94502907" "94502907" "subst" "0" "04206" "ABCA4_001883" "g.94502907C>G" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94037351C>G" "" "pathogenic (recessive)" ""
"0000899663" "1" "90" "1" "94520830" "94520830" "subst" "0" "04206" "ABCA4_000727" "g.94520830G>C" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94055274G>C" "" "pathogenic (recessive)" ""
"0000899664" "1" "90" "1" "94486908" "94486917" "del" "0" "04206" "ABCA4_001742" "g.94486908_94486917del" "" "{PMID:Tian 2024:37774808}" "" "4897_4906delGTGGCCCACA" "" "Germline" "yes" "" "0" "" "" "g.94021352_94021361del" "" "pathogenic (recessive)" ""
"0000899665" "1" "90" "1" "94526295" "94526295" "subst" "3.69731E-5" "04206" "ABCA4_000114" "g.94526295C>T" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94060739C>T" "" "pathogenic (recessive)" ""
"0000899666" "1" "90" "1" "94512499" "94512499" "subst" "0.000130029" "04206" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94046943T>C" "" "pathogenic (recessive)" ""
"0000899667" "1" "90" "1" "94526296" "94526296" "subst" "1.64555E-5" "04206" "ABCA4_000768" "g.94526296G>A" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94060740G>A" "" "pathogenic (recessive)" ""
"0000899668" "1" "90" "1" "94512499" "94512499" "subst" "0.000130029" "04206" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94046943T>C" "" "pathogenic (recessive)" ""
"0000899669" "1" "90" "1" "94528868" "94528868" "del" "0" "04206" "ABCA4_000304" "g.94528868del" "" "{PMID:Tian 2024:37774808}" "" "1561delG" "" "Germline" "yes" "" "0" "" "" "g.94063312del" "" "pathogenic (recessive)" ""
"0000899670" "1" "90" "1" "94574273" "94574273" "subst" "0" "04206" "ABCA4_002451" "g.94574273C>T" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94108717C>T" "" "pathogenic (recessive)" ""
"0000899673" "1" "90" "1" "94509027" "94509027" "subst" "4.06478E-6" "04206" "ABCA4_000661" "g.94509027T>C" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94043471T>C" "" "pathogenic (recessive)" ""
"0000899674" "1" "90" "1" "94586549" "94586549" "subst" "0" "04206" "ABCA4_001329" "g.94586549C>G" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94120993C>G" "" "pathogenic (recessive)" ""
"0000899676" "1" "90" "1" "94578589" "94578594" "del" "0" "04206" "ABCA4_000249" "g.94578589_94578594del" "" "{PMID:Tian 2024:37774808}" "" "101_106delCTTTAT" "" "Germline" "yes" "" "0" "" "" "g.94113033_94113038del" "" "pathogenic (recessive)" ""
"0000899677" "3" "90" "1" "94528868" "94528868" "del" "0" "04206" "ABCA4_000304" "g.94528868del" "" "{PMID:Tian 2024:37774808}" "" "1561delG" "" "Germline" "yes" "" "0" "" "" "g.94063312del" "" "pathogenic (recessive)" ""
"0000899678" "1" "90" "1" "94508323" "94508323" "subst" "0" "04206" "ABCA4_002434" "g.94508323G>C" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94042767G>C" "" "pathogenic (recessive)" ""
"0000899679" "1" "90" "1" "94526295" "94526295" "subst" "3.69731E-5" "04206" "ABCA4_000114" "g.94526295C>T" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94060739C>T" "" "pathogenic (recessive)" ""
"0000899680" "1" "90" "1" "94474381" "94474381" "subst" "1.21849E-5" "04206" "ABCA4_000410" "g.94474381C>T" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94008825C>T" "" "pathogenic (recessive)" ""
"0000899681" "1" "90" "1" "94528311" "94528311" "subst" "0" "04206" "ABCA4_001138" "g.94528311T>C" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94062755T>C" "" "pathogenic (recessive)" ""
"0000899682" "1" "90" "1" "94546261" "94546261" "subst" "0.000648567" "04206" "ABCA4_000353" "g.94546261G>A" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94080705G>A" "" "pathogenic (recessive)" ""
"0000899683" "1" "70" "1" "94546150" "94546150" "subst" "4.06828E-6" "04206" "ABCA4_000346" "g.94546150T>A" "" "{PMID:Tian 2024:37774808}" "" "[983A>T;3106G>A]" "" "Germline" "yes" "" "0" "" "" "g.94080594T>A" "" "likely pathogenic (recessive)" ""
"0000899684" "1" "90" "1" "94578532" "94578532" "subst" "4.06141E-6" "04206" "ABCA4_002238" "g.94578532C>A" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94112976C>A" "" "pathogenic (recessive)" ""
"0000899685" "1" "90" "1" "94577135" "94577135" "subst" "4.06197E-6" "04206" "ABCA4_000241" "g.94577135C>A" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94111579C>A" "" "pathogenic (recessive)" ""
"0000899686" "1" "70" "1" "94546150" "94546150" "subst" "4.06828E-6" "04206" "ABCA4_000346" "g.94546150T>A" "" "{PMID:Tian 2024:37774808}" "" "[983A>T;3106G>A]" "" "Germline" "yes" "" "0" "" "" "g.94080594T>A" "" "likely pathogenic (recessive)" ""
"0000899687" "1" "90" "1" "94578589" "94578594" "del" "0" "04206" "ABCA4_000249" "g.94578589_94578594del" "" "{PMID:Tian 2024:37774808}" "" "101_106delCTTTAT" "" "Germline" "yes" "" "0" "" "" "g.94113033_94113038del" "" "pathogenic (recessive)" ""
"0000899688" "1" "90" "1" "94512499" "94512499" "subst" "0.000130029" "04206" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94046943T>C" "" "pathogenic (recessive)" ""
"0000899689" "1" "90" "1" "94526194" "94526194" "dup" "0" "04206" "ABCA4_001308" "g.94526194dup" "" "{PMID:Tian 2024:37774808}" "" "2063dupA" "" "Germline" "yes" "" "0" "" "" "g.94060638dup" "" "pathogenic (recessive)" ""
"0000899690" "1" "70" "1" "94546150" "94546150" "subst" "4.06828E-6" "04206" "ABCA4_000346" "g.94546150T>A" "" "{PMID:Tian 2024:37774808}" "" "[983A>T;3106G>A]" "" "Germline" "yes" "" "0" "" "" "g.94080594T>A" "" "likely pathogenic (recessive)" ""
"0000899691" "1" "90" "1" "94546265" "94546265" "subst" "2.04063E-5" "04206" "ABCA4_000355" "g.94546265G>A" "" "{PMID:Tian 2024:37774808}" "" "" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.94080709G>A" "" "pathogenic (recessive)" ""
"0000899692" "1" "90" "1" "94578589" "94578594" "del" "0" "04206" "ABCA4_000249" "g.94578589_94578594del" "" "{PMID:Tian 2024:37774808}" "" "101_106delCTTTAT" "" "Germline" "yes" "" "0" "" "" "g.94113033_94113038del" "" "pathogenic (recessive)" ""
"0000899693" "1" "90" "1" "94564505" "94564505" "subst" "0" "04206" "ABCA4_002450" "g.94564505A>T" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "" "" "0" "" "" "g.94098949A>T" "" "pathogenic (recessive)" ""
"0000899694" "3" "90" "1" "94466658" "94466658" "subst" "8.14817E-6" "04206" "ABCA4_000132" "g.94466658C>T" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94001102C>T" "" "pathogenic (recessive)" ""
"0000899695" "1" "90" "1" "94495009" "94495009" "del" "0" "04206" "ABCA4_000534" "g.94495009del" "" "{PMID:Tian 2024:37774808}" "" "4537delC" "" "Germline" "yes" "" "0" "" "" "g.94029453del" "" "pathogenic (recessive)" ""
"0000899696" "1" "90" "1" "94568636" "94568636" "subst" "0" "04206" "ABCA4_001365" "g.94568636T>A" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94103080T>A" "" "pathogenic (recessive)" ""
"0000899697" "1" "90" "1" "94568625" "94568625" "del" "0" "04206" "ABCA4_000206" "g.94568625del" "" "{PMID:Tian 2024:37774808}" "" "517delC" "" "Germline" "yes" "" "0" "" "" "g.94103069del" "" "pathogenic (recessive)" ""
"0000899698" "1" "90" "1" "94578618" "94578618" "subst" "0.000166918" "04206" "ABCA4_000252" "g.94578618C>T" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94113062C>T" "" "pathogenic (recessive)" ""
"0000899699" "1" "90" "1" "94485137" "94485137" "subst" "0" "04206" "ABCA4_000464" "g.94485137C>T" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94019581C>T" "" "pathogenic (recessive)" ""
"0000899700" "1" "90" "1" "94520816" "94520816" "subst" "0" "04206" "ABCA4_002442" "g.94520816T>A" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94055260T>A" "" "pathogenic (recessive)" ""
"0000899701" "3" "90" "1" "94461736" "94461736" "subst" "0" "04206" "ABCA4_002409" "g.94461736C>G" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.93996180C>G" "" "pathogenic (recessive)" ""
"0000899702" "1" "90" "1" "94520666" "94520666" "subst" "4.06312E-6" "04206" "ABCA4_002441" "g.94520666C>T" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94055110C>T" "" "pathogenic (recessive)" ""
"0000899703" "1" "90" "1" "94506867" "94506867" "subst" "0" "04206" "ABCA4_001296" "g.94506867G>C" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94041311G>C" "" "pathogenic (recessive)" ""
"0000899704" "1" "90" "1" "94463480" "94463480" "dup" "0" "04206" "ABCA4_002327" "g.94463480dup" "" "{PMID:Tian 2024:37774808}" "" "6667dupC" "" "Germline" "yes" "" "0" "" "" "g.93997924dup" "" "pathogenic (recessive)" ""
"0000899705" "1" "90" "1" "94544184" "94544184" "del" "0" "04206" "ABCA4_001381" "g.94544184del" "" "{PMID:Tian 2024:37774808}" "" "1318delT" "" "Germline" "yes" "" "0" "" "" "g.94078628del" "" "pathogenic (recessive)" ""
"0000899706" "1" "90" "1" "94528137" "94528137" "subst" "2.03363E-5" "04206" "ABCA4_000774" "g.94528137C>T" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94062581C>T" "" "pathogenic (recessive)" ""
"0000899707" "1" "90" "1" "94520830" "94520830" "subst" "0" "04206" "ABCA4_000727" "g.94520830G>C" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "" "" "0" "" "" "g.94055274G>C" "" "pathogenic (recessive)" ""
"0000899708" "1" "90" "1" "94546127" "94546127" "del" "0" "04206" "ABCA4_001320" "g.94546127del" "" "{PMID:Tian 2024:37774808}" "" "1006delT" "" "Germline" "yes" "" "0" "" "" "g.94080571del" "" "pathogenic (recessive)" ""
"0000899709" "1" "90" "1" "94526295" "94526295" "subst" "3.69731E-5" "04206" "ABCA4_000114" "g.94526295C>T" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94060739C>T" "" "pathogenic (recessive)" ""
"0000899710" "1" "90" "1" "94546162" "94546162" "subst" "0" "04206" "ABCA4_002448" "g.94546162C>T" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94080606C>T" "" "pathogenic (recessive)" ""
"0000899711" "1" "90" "1" "94526194" "94526194" "dup" "0" "04206" "ABCA4_001308" "g.94526194dup" "" "{PMID:Tian 2024:37774808}" "" "2063dupA" "" "Germline" "yes" "" "0" "" "" "g.94060638dup" "" "pathogenic (recessive)" ""
"0000899712" "3" "90" "1" "94528868" "94528868" "del" "0" "04206" "ABCA4_000304" "g.94528868del" "" "{PMID:Tian 2024:37774808}" "" "1561delG" "" "Germline" "yes" "" "0" "" "" "g.94063312del" "" "pathogenic (recessive)" ""
"0000899713" "3" "90" "1" "94528251" "94528251" "subst" "2.84824E-5" "04206" "ABCA4_000281" "g.94528251C>T" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94062695C>T" "" "pathogenic (recessive)" ""
"0000899714" "1" "90" "1" "94528666" "94528666" "subst" "0" "04206" "ABCA4_000289" "g.94528666A>C" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94063110A>C" "" "pathogenic (recessive)" ""
"0000899715" "1" "90" "1" "94578589" "94578594" "del" "0" "04206" "ABCA4_000249" "g.94578589_94578594del" "" "{PMID:Tian 2024:37774808}" "" "101_106delCTTTAT" "" "Germline" "yes" "" "0" "" "" "g.94113033_94113038del" "" "pathogenic (recessive)" ""
"0000899716" "1" "90" "1" "94506961" "94506961" "subst" "0" "04206" "ABCA4_001913" "g.94506961G>C" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94041405G>C" "" "pathogenic (recessive)" ""
"0000899717" "1" "70" "1" "94528873" "94528873" "subst" "4.0714E-6" "04206" "ABCA4_002109" "g.94528873A>G" "" "{PMID:Tian 2024:37774808}" "" "[1555T>C;1648G>A]" "" "Germline" "" "" "0" "" "" "g.94063317A>G" "" "likely pathogenic (recessive)" ""
"0000899718" "1" "90" "1" "94528831" "94528831" "subst" "0" "04206" "ABCA4_002103" "g.94528831G>A" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "" "" "0" "" "" "g.94063275G>A" "" "pathogenic (recessive)" ""
"0000899719" "1" "90" "1" "94528868" "94528868" "del" "0" "04206" "ABCA4_000304" "g.94528868del" "" "{PMID:Tian 2024:37774808}" "" "1561delG" "" "Germline" "yes" "" "0" "" "" "g.94063312del" "" "pathogenic (recessive)" ""
"0000899720" "3" "90" "1" "94577109" "94577109" "subst" "0" "04206" "ABCA4_002229" "g.94577109A>G" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94111553A>G" "" "pathogenic (recessive)" ""
"0000899721" "1" "90" "1" "94505684" "94505684" "del" "0" "04206" "ABCA4_001892" "g.94505684del" "" "{PMID:Tian 2024:37774808}" "" "3525delG" "" "Germline" "yes" "" "0" "" "" "g.94040128del" "" "pathogenic (recessive)" ""
"0000899722" "1" "90" "1" "94520830" "94520830" "subst" "0" "04206" "ABCA4_000727" "g.94520830G>C" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94055274G>C" "" "pathogenic (recessive)" ""
"0000899723" "1" "90" "1" "94487401" "94487401" "subst" "0" "04206" "ABCA4_000495" "g.94487401C>A" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94021845C>A" "" "pathogenic (recessive)" ""
"0000899724" "1" "90" "1" "94586549" "94586549" "subst" "0" "04206" "ABCA4_001329" "g.94586549C>G" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94120993C>G" "" "pathogenic (recessive)" ""
"0000899725" "1" "90" "1" "94528868" "94528868" "del" "0" "04206" "ABCA4_000304" "g.94528868del" "" "{PMID:Tian 2024:37774808}" "" "1561delG" "" "Germline" "yes" "" "0" "" "" "g.94063312del" "" "pathogenic (recessive)" ""
"0000899726" "1" "90" "1" "94546048" "94546048" "dup" "0" "04206" "ABCA4_002446" "g.94546048dup" "" "{PMID:Tian 2024:37774808}" "" "1085dupA" "" "Germline" "yes" "" "0" "" "" "g.94080492dup" "" "pathogenic (recessive)" ""
"0000899727" "1" "70" "1" "94546150" "94546150" "subst" "4.06828E-6" "04206" "ABCA4_000346" "g.94546150T>A" "" "{PMID:Tian 2024:37774808}" "" "[983A>T;3106G>A]" "" "Germline" "yes" "" "0" "" "" "g.94080594T>A" "" "likely pathogenic (recessive)" ""
"0000899728" "1" "90" "1" "94486897" "94486916" "del" "0" "04206" "ABCA4_002424" "g.94486897_94486916del" "" "{PMID:Tian 2024:37774808}" "" "4898_4917delTGGCCCACAACGCCATCTTA" "" "Germline" "yes" "" "0" "" "" "g.94021341_94021360del" "" "pathogenic (recessive)" ""
"0000899729" "1" "90" "1" "94512499" "94512499" "subst" "0.000130029" "04206" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94046943T>C" "" "pathogenic (recessive)" ""
"0000899730" "1" "70" "1" "94568625" "94568625" "del" "0" "04206" "ABCA4_000206" "g.94568625del" "" "{PMID:Tian 2024:37774808}" "" "[517delC;4113G>T]" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.94103069del" "" "likely pathogenic (recessive)" ""
"0000899731" "1" "90" "1" "94577055" "94577056" "del" "0" "04206" "ABCA4_000229" "g.94577055_94577056del" "" "{PMID:Tian 2024:37774808}" "" "240_241delCT" "" "Germline" "yes" "" "0" "" "" "g.94111499_94111500del" "" "pathogenic (recessive)" ""
"0000899732" "1" "90" "1" "94520830" "94520830" "subst" "0" "04206" "ABCA4_000727" "g.94520830G>C" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94055274G>C" "" "pathogenic (recessive)" ""
"0000899734" "1" "90" "1" "94528868" "94528868" "del" "0" "04206" "ABCA4_000304" "g.94528868del" "" "{PMID:Tian 2024:37774808}" "" "1561delG" "" "Germline" "yes" "" "0" "" "" "g.94063312del" "" "pathogenic (recessive)" ""
"0000899735" "1" "90" "1" "94502295" "94502295" "subst" "0" "04206" "ABCA4_000589" "g.94502295C>T" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94036739C>T" "" "pathogenic (recessive)" ""
"0000899736" "1" "90" "1" "94520830" "94520830" "subst" "0" "04206" "ABCA4_000727" "g.94520830G>C" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94055274G>C" "" "pathogenic (recessive)" ""
"0000899737" "2" "90" "1" "94488941" "94488941" "subst" "0" "04206" "ABCA4_001772" "g.94488941C>A" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94023385C>A" "" "pathogenic (recessive)" ""
"0000899738" "2" "90" "1" "94520830" "94520830" "subst" "0" "04206" "ABCA4_000727" "g.94520830G>C" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "" "" "0" "" "" "g.94055274G>C" "" "pathogenic (recessive)" ""
"0000899739" "2" "90" "1" "94508365" "94508365" "subst" "0" "04206" "ABCA4_001927" "g.94508365G>T" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "" "" "0" "" "" "g.94042809G>T" "" "pathogenic (recessive)" ""
"0000899740" "2" "90" "1" "94490534" "94490534" "subst" "0.000125895" "04206" "ABCA4_000520" "g.94490534G>A" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "" "" "0" "" "" "g.94024978G>A" "" "pathogenic (recessive)" ""
"0000899741" "2" "90" "1" "94463667" "94463667" "subst" "0" "04206" "ABCA4_001371" "g.94463667C>A" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.93998111C>A" "" "pathogenic (recessive)" ""
"0000899742" "2" "90" "1" "94509026" "94509026" "subst" "4.06497E-5" "04206" "ABCA4_000660" "g.94509026G>A" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94043470G>A" "" "pathogenic (recessive)" ""
"0000899743" "2" "90" "1" "94480241" "94480241" "subst" "7.71705E-5" "04206" "ABCA4_000446" "g.94480241G>A" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94014685G>A" "" "pathogenic (recessive)" ""
"0000899744" "2" "90" "1" "94471049" "94471049" "subst" "0" "04206" "ABCA4_000795" "g.94471049T>C" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "" "" "0" "" "" "g.94005493T>C" "" "pathogenic (recessive)" ""
"0000899745" "2" "90" "1" "94487401" "94487401" "subst" "0" "04206" "ABCA4_000495" "g.94487401C>A" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "" "" "0" "" "" "g.94021845C>A" "" "pathogenic (recessive)" ""
"0000899746" "2" "90" "1" "94512499" "94512499" "subst" "0.000130029" "04206" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94046943T>C" "" "pathogenic (recessive)" ""
"0000899747" "2" "90" "1" "94474381" "94474381" "subst" "1.21849E-5" "04206" "ABCA4_000410" "g.94474381C>T" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94008825C>T" "" "pathogenic (recessive)" ""
"0000899748" "2" "70" "1" "94546150" "94546150" "subst" "4.06828E-6" "04206" "ABCA4_000346" "g.94546150T>A" "" "{PMID:Tian 2024:37774808}" "" "[983A>T;3106G>A]" "" "Germline" "yes" "" "0" "" "" "g.94080594T>A" "" "likely pathogenic (recessive)" ""
"0000899749" "2" "90" "1" "94528786" "94528786" "subst" "0" "04206" "ABCA4_002099" "g.94528786A>G" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94063230A>G" "" "pathogenic (recessive)" ""
"0000899750" "2" "90" "1" "94508947" "94508948" "ins" "0" "04206" "ABCA4_001379" "g.94508947_94508948insT" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94043391_94043392insT" "" "pathogenic (recessive)" ""
"0000899751" "2" "90" "1" "94512499" "94512499" "subst" "0.000130029" "04206" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94046943T>C" "" "pathogenic (recessive)" ""
"0000899752" "2" "90" "1" "94466655" "94466655" "subst" "0" "04206" "ABCA4_000842" "g.94466655G>A" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94001099G>A" "" "pathogenic (recessive)" ""
"0000899753" "2" "90" "1" "94463583" "94463583" "subst" "8.12183E-6" "04206" "ABCA4_000806" "g.94463583A>G" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.93998027A>G" "" "pathogenic (recessive)" ""
"0000899754" "2" "90" "1" "94463583" "94463583" "subst" "8.12183E-6" "04206" "ABCA4_000806" "g.94463583A>G" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.93998027A>G" "" "pathogenic (recessive)" ""
"0000899755" "2" "90" "1" "94471056" "94471056" "subst" "2.84398E-5" "04206" "ABCA4_000050" "g.94471056G>A" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94005500G>A" "" "pathogenic (recessive)" ""
"0000899756" "2" "90" "1" "94520830" "94520830" "subst" "0" "04206" "ABCA4_000727" "g.94520830G>C" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "" "" "0" "" "" "g.94055274G>C" "" "pathogenic (recessive)" ""
"0000899757" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "04206" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000899758" "2" "90" "1" "94520830" "94520830" "subst" "0" "04206" "ABCA4_000727" "g.94520830G>C" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94055274G>C" "" "pathogenic (recessive)" ""
"0000899759" "2" "90" "1" "94463583" "94463583" "subst" "8.12183E-6" "04206" "ABCA4_000806" "g.94463583A>G" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "" "" "0" "" "" "g.93998027A>G" "" "pathogenic (recessive)" ""
"0000899760" "2" "90" "1" "94480241" "94480241" "subst" "7.71705E-5" "04206" "ABCA4_000446" "g.94480241G>A" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94014685G>A" "" "pathogenic (recessive)" ""
"0000899761" "2" "90" "1" "94476424" "94476424" "subst" "2.43694E-5" "04206" "ABCA4_000418" "g.94476424C>T" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94010868C>T" "" "pathogenic (recessive)" ""
"0000899762" "2" "70" "1" "94546150" "94546150" "subst" "4.06828E-6" "04206" "ABCA4_000346" "g.94546150T>A" "" "{PMID:Tian 2024:37774808}" "" "[983A>T;3106G>A]" "" "Germline" "yes" "" "0" "" "" "g.94080594T>A" "" "likely pathogenic (recessive)" ""
"0000899764" "2" "70" "1" "94546150" "94546150" "subst" "4.06828E-6" "04206" "ABCA4_000346" "g.94546150T>A" "" "{PMID:Tian 2024:37774808}" "" "[983A>T;3106G>A]" "" "Germline" "yes" "" "0" "" "" "g.94080594T>A" "" "likely pathogenic (recessive)" ""
"0000899765" "2" "90" "1" "94520830" "94520830" "subst" "0" "04206" "ABCA4_000727" "g.94520830G>C" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94055274G>C" "" "pathogenic (recessive)" ""
"0000899766" "2" "70" "1" "94528819" "94528819" "subst" "2.03128E-5" "04206" "ABCA4_000078" "g.94528819G>A" "" "{PMID:Tian 2024:37774808}" "" "[1609C>T;5881G>A]" "" "Germline" "yes" "" "0" "" "" "g.94063263G>A" "" "likely pathogenic (recessive)" ""
"0000899767" "2" "90" "1" "94512499" "94512499" "subst" "0.000130029" "04206" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "" "" "0" "" "" "g.94046943T>C" "" "pathogenic (recessive)" ""
"0000899768" "2" "90" "1" "94463583" "94463583" "subst" "8.12183E-6" "04206" "ABCA4_000806" "g.94463583A>G" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.93998027A>G" "" "pathogenic (recessive)" ""
"0000899771" "2" "90" "1" "94471026" "94471026" "subst" "1.21925E-5" "04206" "ABCA4_000791" "g.94471026G>A" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "" "" "0" "" "" "g.94005470G>A" "" "pathogenic (recessive)" ""
"0000899773" "2" "90" "1" "94463583" "94463583" "subst" "8.12183E-6" "04206" "ABCA4_000806" "g.94463583A>G" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "" "" "0" "" "" "g.93998027A>G" "" "pathogenic (recessive)" ""
"0000899774" "2" "90" "1" "94476351" "94476351" "subst" "0.000296608" "04206" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94010795C>T" "" "pathogenic (recessive)" ""
"0000899775" "2" "90" "1" "94463583" "94463583" "subst" "8.12183E-6" "04206" "ABCA4_000806" "g.94463583A>G" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.93998027A>G" "" "pathogenic (recessive)" ""
"0000899776" "2" "90" "1" "94466664" "94466664" "subst" "0" "04206" "ABCA4_001589" "g.94466664G>C" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "" "" "0" "" "" "g.94001108G>C" "" "pathogenic (recessive)" ""
"0000899778" "2" "90" "1" "94497564" "94497564" "subst" "1.64383E-5" "04206" "ABCA4_000091" "g.94497564G>A" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94032008G>A" "" "pathogenic (recessive)" ""
"0000899779" "2" "90" "1" "94463583" "94463583" "subst" "8.12183E-6" "04206" "ABCA4_000806" "g.94463583A>G" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.93998027A>G" "" "pathogenic (recessive)" ""
"0000899780" "2" "90" "1" "94506923" "94506923" "subst" "2.43657E-5" "04206" "ABCA4_000012" "g.94506923C>T" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94041367C>T" "" "pathogenic (recessive)" ""
"0000899781" "2" "90" "1" "94471026" "94471026" "subst" "1.21925E-5" "04206" "ABCA4_000791" "g.94471026G>A" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94005470G>A" "" "pathogenic (recessive)" ""
"0000899782" "2" "90" "1" "94461717" "94461761" "dup" "0" "04206" "ABCA4_001560" "g.94461717_94461761dup" "" "{PMID:Tian 2024:37774808}" "" "6730-9_6765dupTACCTCTAGGTGTTTGTAAATTTTGCTAAACAGCAGACTGAAAGT" "" "Germline" "yes" "" "0" "" "" "g.93996161_93996205dup" "" "pathogenic (recessive)" ""
"0000899783" "2" "90" "1" "94471094" "94471094" "subst" "0" "04206" "ABCA4_001629" "g.94471094C>T" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94005538C>T" "" "pathogenic (recessive)" ""
"0000899784" "2" "90" "1" "94463583" "94463583" "subst" "8.12183E-6" "04206" "ABCA4_000806" "g.94463583A>G" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.93998027A>G" "" "pathogenic (recessive)" ""
"0000899785" "2" "90" "1" "94463583" "94463583" "subst" "8.12183E-6" "04206" "ABCA4_000806" "g.94463583A>G" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.93998027A>G" "" "pathogenic (recessive)" ""
"0000899786" "2" "90" "1" "94473266" "94473266" "subst" "8.14677E-6" "04206" "ABCA4_000389" "g.94473266C>T" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94007710C>T" "" "pathogenic (recessive)" ""
"0000899787" "2" "90" "1" "94486858" "94486858" "subst" "0" "04206" "ABCA4_000482" "g.94486858A>C" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94021302A>C" "" "pathogenic (recessive)" ""
"0000899788" "2" "90" "1" "94476467" "94476467" "subst" "0.0424562" "04206" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94010911T>A" "" "pathogenic (recessive)" ""
"0000899789" "2" "90" "1" "94463583" "94463583" "subst" "8.12183E-6" "04206" "ABCA4_000806" "g.94463583A>G" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.93998027A>G" "" "pathogenic (recessive)" ""
"0000899790" "2" "90" "1" "94528251" "94528251" "subst" "2.84824E-5" "04206" "ABCA4_000281" "g.94528251C>T" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94062695C>T" "" "pathogenic (recessive)" ""
"0000899791" "2" "90" "1" "94528831" "94528831" "subst" "0" "04206" "ABCA4_002103" "g.94528831G>A" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94063275G>A" "" "pathogenic (recessive)" ""
"0000899792" "2" "90" "1" "94473808" "94473808" "subst" "8.52861E-5" "04206" "ABCA4_000196" "g.94473808C>T" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "" "" "0" "" "" "g.94008252C>T" "" "pathogenic (recessive)" ""
"0000899793" "2" "90" "1" "94481411" "94481411" "subst" "0" "04206" "ABCA4_001718" "g.94481411C>T" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94015855C>T" "" "pathogenic (recessive)" ""
"0000899794" "2" "90" "1" "94495008" "94495008" "subst" "0" "04206" "ABCA4_001802" "g.94495008G>T" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94029452G>T" "" "pathogenic (recessive)" ""
"0000899795" "2" "90" "1" "94463583" "94463583" "subst" "8.12183E-6" "04206" "ABCA4_000806" "g.94463583A>G" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "" "" "0" "" "" "g.93998027A>G" "" "pathogenic (recessive)" ""
"0000899796" "2" "90" "1" "94528251" "94528251" "subst" "2.84824E-5" "04206" "ABCA4_000281" "g.94528251C>T" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94062695C>T" "" "pathogenic (recessive)" ""
"0000899797" "2" "90" "1" "94520830" "94520830" "subst" "0" "04206" "ABCA4_000727" "g.94520830G>C" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94055274G>C" "" "pathogenic (recessive)" ""
"0000899798" "2" "90" "1" "94506941" "94506953" "del" "0" "04206" "ABCA4_001908" "g.94506941_94506953del" "" "{PMID:Tian 2024:37774808}" "" "3334_3346delACCATCATCATGT" "" "Germline" "yes" "" "0" "" "" "g.94041385_94041397del" "" "pathogenic (recessive)" ""
"0000899799" "2" "70" "1" "94508425" "94508425" "subst" "0" "04206" "ABCA4_001937" "g.94508425T>G" "" "{PMID:Tian 2024:37774808}" "" "[101_106delCTTTAT;3220A>C]" "" "Germline" "yes" "" "0" "" "" "g.94042869T>G" "" "likely pathogenic (recessive)" ""
"0000899801" "2" "90" "1" "94574256" "94574256" "subst" "2.8425E-5" "04206" "ABCA4_000040" "g.94574256G>A" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94108700G>A" "" "pathogenic (recessive)" ""
"0000899802" "2" "90" "1" "94528311" "94528311" "subst" "0" "04206" "ABCA4_001138" "g.94528311T>C" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94062755T>C" "" "pathogenic (recessive)" ""
"0000899803" "2" "90" "1" "94495157" "94495157" "subst" "0" "04206" "ABCA4_000545" "g.94495157C>T" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94029601C>T" "" "pathogenic (recessive)" ""
"0000899804" "2" "90" "1" "94471019" "94471019" "subst" "0" "04206" "ABCA4_001369" "g.94471019A>C" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94005463A>C" "" "pathogenic (recessive)" ""
"0000899805" "2" "70" "1" "94471076" "94471076" "subst" "3.24992E-5" "04206" "ABCA4_001628" "g.94471076A>G" "" "{PMID:Tian 2024:37774808}" "" "[6068T>C;6106delT]" "" "Germline" "" "" "0" "" "" "g.94005520A>G" "" "likely pathogenic (recessive)" ""
"0000899806" "2" "90" "1" "94512475" "94512475" "subst" "0" "04206" "ABCA4_001975" "g.94512475A>G" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94046919A>G" "" "pathogenic (recessive)" ""
"0000899807" "2" "90" "1" "94471026" "94471026" "subst" "1.21925E-5" "04206" "ABCA4_000791" "g.94471026G>A" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "" "" "0" "" "" "g.94005470G>A" "" "pathogenic (recessive)" ""
"0000899808" "2" "90" "1" "94471056" "94471056" "subst" "2.84398E-5" "04206" "ABCA4_000050" "g.94471056G>A" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94005500G>A" "" "pathogenic (recessive)" ""
"0000899809" "2" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "04206" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "" "" "0" "" "" "g.94062710G>A" "" "pathogenic (recessive)" ""
"0000899810" "2" "90" "1" "94466423" "94466423" "subst" "0" "04206" "ABCA4_000818" "g.94466423A>G" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94000867A>G" "" "pathogenic (recessive)" ""
"0000899811" "2" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "04206" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "" "" "0" "" "" "g.94062710G>A" "" "pathogenic (recessive)" ""
"0000899813" "2" "90" "1" "94528256" "94528256" "subst" "0" "04206" "ABCA4_002080" "g.94528256C>T" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94062700C>T" "" "pathogenic (recessive)" ""
"0000899814" "2" "70" "1" "94495983" "94495983" "subst" "8.12348E-6" "04206" "ABCA4_000547" "g.94495983C>T" "" "{PMID:Tian 2024:37774808}" "" "[4352+1G>A;4508C>T]" "" "Germline" "yes" "" "0" "" "" "g.94030427C>T" "" "likely pathogenic (recessive)" ""
"0000899815" "2" "90" "1" "94461664" "94461664" "subst" "4.06841E-6" "04206" "ABCA4_000860" "g.94461664C>T" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.93996108C>T" "" "pathogenic (recessive)" ""
"0000899816" "2" "70" "1" "94528164" "94528164" "subst" "0" "04206" "ABCA4_001311" "g.94528164G>T" "" "{PMID:Tian 2024:37774808}" "" "[1906C>A;4436G>A;4508C>T]" "" "Germline" "yes" "" "0" "" "" "g.94062608G>T" "" "likely pathogenic (recessive)" ""
"0000899817" "2" "90" "1" "94508976" "94508976" "subst" "1.21906E-5" "04206" "ABCA4_000655" "g.94508976C>T" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94043420C>T" "" "pathogenic (recessive)" ""
"0000899818" "2" "90" "1" "94546155" "94546155" "subst" "0" "04206" "ABCA4_002149" "g.94546155G>C" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94080599G>C" "" "pathogenic (recessive)" ""
"0000899819" "2" "90" "1" "94485162" "94485162" "subst" "0" "04206" "ABCA4_001419" "g.94485162C>T" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94019606C>T" "" "pathogenic (recessive)" ""
"0000899821" "2" "90" "1" "94528132" "94528132" "subst" "4.06835E-6" "04206" "ABCA4_000773" "g.94528132C>T" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94062576C>T" "" "pathogenic (recessive)" ""
"0000899822" "2" "90" "1" "94467464" "94467464" "subst" "0" "04206" "ABCA4_001597" "g.94467464T>C" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94001908T>C" "" "pathogenic (recessive)" ""
"0000899823" "2" "90" "1" "94486946" "94486946" "subst" "0" "04206" "ABCA4_001747" "g.94486946C>A" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "" "" "0" "" "" "g.94021390C>A" "" "pathogenic (recessive)" ""
"0000899824" "2" "90" "1" "94476834" "94476845" "del" "0" "04206" "ABCA4_002418" "g.94476834_94476845del" "" "{PMID:Tian 2024:37774808}" "" "5558_5569delCTGTGACAGATG" "" "Germline" "yes" "" "0" "" "" "g.94011278_94011289del" "" "pathogenic (recessive)" ""
"0000899825" "2" "90" "1" "94474381" "94474381" "subst" "1.21849E-5" "04206" "ABCA4_000410" "g.94474381C>T" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94008825C>T" "" "pathogenic (recessive)" ""
"0000899826" "2" "90" "1" "94461664" "94461664" "subst" "4.06841E-6" "04206" "ABCA4_000860" "g.94461664C>T" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.93996108C>T" "" "pathogenic (recessive)" ""
"0000899827" "2" "90" "1" "94528311" "94528311" "subst" "0" "04206" "ABCA4_001138" "g.94528311T>C" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94062755T>C" "" "pathogenic (recessive)" ""
"0000899828" "2" "90" "1" "94546237" "94546237" "del" "0" "04206" "ABCA4_002449" "g.94546237del" "" "{PMID:Tian 2024:37774808}" "" "896delT" "" "Germline" "yes" "" "0" "" "" "g.94080681del" "" "pathogenic (recessive)" ""
"0000899829" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "04206" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000899830" "2" "90" "1" "94520830" "94520830" "subst" "0" "04206" "ABCA4_000727" "g.94520830G>C" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94055274G>C" "" "pathogenic (recessive)" ""
"0000899831" "2" "90" "1" "94505684" "94505684" "del" "0" "04206" "ABCA4_001892" "g.94505684del" "" "{PMID:Tian 2024:37774808}" "" "3525delG" "" "Germline" "yes" "" "0" "" "" "g.94040128del" "" "pathogenic (recessive)" ""
"0000899832" "2" "90" "1" "94497393" "94497393" "subst" "2.04188E-5" "04206" "ABCA4_000578" "g.94497393C>T" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94031837C>T" "" "pathogenic (recessive)" ""
"0000899833" "2" "90" "1" "94526194" "94526194" "dup" "0" "04206" "ABCA4_001308" "g.94526194dup" "" "{PMID:Tian 2024:37774808}" "" "2063dupA" "" "Germline" "yes" "" "0" "" "" "g.94060638dup" "" "pathogenic (recessive)" ""
"0000899834" "2" "90" "1" "94490567" "94490567" "subst" "5.68528E-5" "04206" "ABCA4_000026" "g.94490567G>A" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94025011G>A" "" "pathogenic (recessive)" ""
"0000899835" "2" "90" "1" "94487200" "94487200" "del" "0" "04206" "ABCA4_000873" "g.94487200del" "" "{PMID:Tian 2024:37774808}" "" "4845delT" "" "Germline" "yes" "" "0" "" "" "g.94021644del" "" "pathogenic (recessive)" ""
"0000899836" "2" "90" "1" "94496585" "94496585" "subst" "0" "04206" "ABCA4_002431" "g.94496585G>A" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94031029G>A" "" "pathogenic (recessive)" ""
"0000899838" "2" "90" "1" "94520830" "94520830" "subst" "0" "04206" "ABCA4_000727" "g.94520830G>C" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94055274G>C" "" "pathogenic (recessive)" ""
"0000899839" "2" "90" "1" "94506811" "94506811" "subst" "0" "04206" "ABCA4_001295" "g.94506811A>G" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94041255A>G" "" "pathogenic (recessive)" ""
"0000899840" "2" "90" "1" "94473289" "94473289" "subst" "0" "04206" "ABCA4_002416" "g.94473289C>T" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94007733C>T" "" "pathogenic (recessive)" ""
"0000899841" "2" "90" "1" "94466658" "94466658" "subst" "8.14817E-6" "04206" "ABCA4_000132" "g.94466658C>T" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94001102C>T" "" "pathogenic (recessive)" ""
"0000899842" "2" "90" "1" "94495009" "94495009" "dup" "0" "04206" "ABCA4_000087" "g.94495009dup" "" "{PMID:Tian 2024:37774808}" "" "4537dupC" "" "Germline" "yes" "" "0" "" "" "g.94029453dup" "" "pathogenic (recessive)" ""
"0000899843" "2" "90" "1" "94461664" "94461664" "subst" "4.06841E-6" "04206" "ABCA4_000860" "g.94461664C>T" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.93996108C>T" "" "pathogenic (recessive)" ""
"0000899844" "2" "90" "1" "94520830" "94520830" "subst" "0" "04206" "ABCA4_000727" "g.94520830G>C" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94055274G>C" "" "pathogenic (recessive)" ""
"0000899845" "2" "90" "1" "94528251" "94528251" "subst" "2.84824E-5" "04206" "ABCA4_000281" "g.94528251C>T" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94062695C>T" "" "pathogenic (recessive)" ""
"0000899846" "2" "90" "1" "94463583" "94463583" "subst" "8.12183E-6" "04206" "ABCA4_000806" "g.94463583A>G" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "" "" "0" "" "" "g.93998027A>G" "" "pathogenic (recessive)" ""
"0000899847" "2" "90" "1" "94480180" "94480200" "del" "0" "04206" "ABCA4_002420" "g.94480180_94480200del" "" "{PMID:Tian 2024:37774808}" "" "5360_5380delTCCCCAGCACAGCCTATGTGG" "" "Germline" "yes" "" "0" "" "" "g.94014624_94014644del" "" "pathogenic (recessive)" ""
"0000899848" "2" "90" "1" "94509026" "94509026" "subst" "4.06497E-5" "04206" "ABCA4_000660" "g.94509026G>A" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94043470G>A" "" "pathogenic (recessive)" ""
"0000899849" "2" "90" "1" "94495983" "94495983" "del" "0" "00006" "ABCA4_002430" "g.94495983del" "" "Lu Tian, submitted 2022" "" "4352+1delG" "" "Germline" "yes" "" "0" "" "" "g.94030427del" "" "pathogenic (recessive)" ""
"0000899850" "2" "90" "1" "94476351" "94476351" "subst" "0.000296608" "00006" "ABCA4_000996" "g.94476351C>T" "" "Lu Tian, submitted 2022" "" "" "" "Germline" "yes" "" "0" "" "" "g.94010795C>T" "" "pathogenic (recessive)" ""
"0000899851" "2" "90" "1" "94508978" "94508978" "del" "0" "00006" "ABCA4_002337" "g.94508978del" "" "Lu Tian, submitted 2022" "" "3104delA" "" "Germline" "yes" "" "0" "" "" "g.94043422del" "" "pathogenic (recessive)" ""
"0000899852" "2" "90" "1" "94508976" "94508976" "subst" "1.21906E-5" "00006" "ABCA4_000655" "g.94508976C>T" "" "Lu Tian, submitted 2022" "" "" "" "Germline" "yes" "" "0" "" "" "g.94043420C>T" "" "pathogenic (recessive)" ""
"0000899853" "2" "90" "1" "94512499" "94512499" "subst" "0.000130029" "00006" "ABCA4_000072" "g.94512499T>C" "" "Lu Tian, submitted 2022" "" "" "" "Germline" "yes" "" "0" "" "" "g.94046943T>C" "" "pathogenic (recessive)" ""
"0000899854" "2" "90" "1" "94463583" "94463583" "subst" "8.12183E-6" "00006" "ABCA4_000806" "g.94463583A>G" "" "Lu Tian, submitted 2022" "" "" "" "Germline" "" "" "0" "" "" "g.93998027A>G" "" "pathogenic (recessive)" ""
"0000899855" "2" "90" "1" "94512499" "94512499" "subst" "0.000130029" "00006" "ABCA4_000072" "g.94512499T>C" "" "Lu Tian, submitted 2022" "" "" "" "Germline" "yes" "" "0" "" "" "g.94046943T>C" "" "pathogenic (recessive)" ""
"0000899856" "2" "90" "1" "94463583" "94463583" "subst" "8.12183E-6" "00006" "ABCA4_000806" "g.94463583A>G" "" "Lu Tian, submitted 2022" "" "" "" "Germline" "yes" "" "0" "" "" "g.93998027A>G" "" "pathogenic (recessive)" ""
"0000899857" "2" "90" "1" "94466482" "94466482" "subst" "0" "00006" "ABCA4_000829" "g.94466482A>T" "" "Lu Tian, submitted 2022" "" "" "" "Germline" "" "" "0" "" "" "g.94000926A>T" "" "pathogenic (recessive)" ""
"0000899858" "2" "90" "1" "94466655" "94466655" "subst" "0" "04206" "ABCA4_000842" "g.94466655G>A" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94001099G>A" "" "pathogenic (recessive)" ""
"0000899859" "2" "90" "1" "94512499" "94512499" "subst" "0.000130029" "04206" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94046943T>C" "" "pathogenic (recessive)" ""
"0000899860" "2" "90" "1" "94471055" "94471055" "subst" "0.00035346" "04206" "ABCA4_000029" "g.94471055C>T" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94005499C>T" "" "pathogenic (recessive)" ""
"0000899861" "2" "90" "1" "94546150" "94546150" "subst" "4.06828E-6" "04206" "ABCA4_000346" "g.94546150T>A" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94080594T>A" "" "pathogenic (recessive)" ""
"0000899862" "2" "90" "1" "94497564" "94497564" "subst" "1.64383E-5" "04206" "ABCA4_000091" "g.94497564G>A" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94032008G>A" "" "pathogenic (recessive)" ""
"0000899863" "2" "90" "1" "94512499" "94512499" "subst" "0.000130029" "04206" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94046943T>C" "" "pathogenic (recessive)" ""
"0000899864" "2" "90" "1" "94506923" "94506923" "subst" "2.43657E-5" "04206" "ABCA4_000012" "g.94506923C>T" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94041367C>T" "" "pathogenic (recessive)" ""
"0000899865" "2" "90" "1" "94520686" "94520686" "subst" "0" "04206" "ABCA4_000710" "g.94520686G>T" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94055130G>T" "" "pathogenic (recessive)" ""
"0000899866" "2" "90" "1" "94463583" "94463583" "subst" "8.12183E-6" "04206" "ABCA4_000806" "g.94463583A>G" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.93998027A>G" "" "pathogenic (recessive)" ""
"0000899868" "2" "90" "1" "94490567" "94490567" "subst" "5.68528E-5" "04206" "ABCA4_000026" "g.94490567G>A" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94025011G>A" "" "pathogenic (recessive)" ""
"0000899870" "2" "90" "1" "94506811" "94506811" "subst" "0" "04206" "ABCA4_001295" "g.94506811A>G" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94041255A>G" "" "pathogenic (recessive)" ""
"0000899871" "2" "90" "1" "94467413" "94467413" "subst" "8.12612E-6" "04206" "ABCA4_000131" "g.94467413C>G" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94001857C>G" "" "pathogenic (recessive)" ""
"0000899872" "2" "90" "1" "94466655" "94466655" "subst" "0" "04206" "ABCA4_000842" "g.94466655G>A" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94001099G>A" "" "pathogenic (recessive)" ""
"0000899873" "2" "90" "1" "94480241" "94480241" "subst" "7.71705E-5" "04206" "ABCA4_000446" "g.94480241G>A" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94014685G>A" "" "pathogenic (recessive)" ""
"0000899874" "2" "90" "1" "94476424" "94476424" "subst" "2.43694E-5" "04206" "ABCA4_000418" "g.94476424C>T" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94010868C>T" "" "pathogenic (recessive)" ""
"0000899876" "2" "90" "1" "94466655" "94466655" "subst" "0" "04206" "ABCA4_000842" "g.94466655G>A" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94001099G>A" "" "pathogenic (recessive)" ""
"0000899877" "2" "90" "1" "94502311" "94502311" "subst" "0" "04206" "ABCA4_002432" "g.94502311C>A" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94036755C>A" "" "pathogenic (recessive)" ""
"0000899878" "2" "90" "1" "94480241" "94480241" "subst" "7.71705E-5" "04206" "ABCA4_000446" "g.94480241G>A" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94014685G>A" "" "pathogenic (recessive)" ""
"0000899879" "2" "90" "1" "94480193" "94480193" "subst" "0" "04206" "ABCA4_002421" "g.94480193C>T" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "" "" "0" "" "" "g.94014637C>T" "" "pathogenic (recessive)" ""
"0000899881" "2" "90" "1" "94466434" "94466434" "subst" "0" "04206" "ABCA4_000821" "g.94466434C>T" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94000878C>T" "" "pathogenic (recessive)" ""
"0000899882" "2" "90" "1" "94506867" "94506867" "subst" "0" "04206" "ABCA4_001296" "g.94506867G>C" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94041311G>C" "" "pathogenic (recessive)" ""
"0000899884" "2" "90" "1" "94506805" "94506805" "subst" "2.03051E-5" "04206" "ABCA4_001294" "g.94506805C>T" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94041249C>T" "" "pathogenic (recessive)" ""
"0000899885" "2" "90" "1" "94510175" "94510175" "subst" "0" "04206" "ABCA4_002437" "g.94510175A>G" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94044619A>G" "" "pathogenic (recessive)" ""
"0000899886" "2" "90" "1" "94508323" "94508323" "subst" "0.000125953" "04206" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000899887" "2" "90" "1" "94463586" "94463587" "ins" "0" "04206" "ABCA4_002412" "g.94463586_94463587insCAGT" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.93998030_93998031insCAGT" "" "pathogenic (recessive)" ""
"0000899888" "2" "90" "1" "94485137" "94485137" "subst" "0" "04206" "ABCA4_000464" "g.94485137C>T" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94019581C>T" "" "pathogenic (recessive)" ""
"0000899889" "2" "90" "1" "94471094" "94471094" "subst" "0" "04206" "ABCA4_001629" "g.94471094C>T" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94005538C>T" "" "pathogenic (recessive)" ""
"0000899890" "2" "90" "1" "94463583" "94463583" "subst" "8.12183E-6" "04206" "ABCA4_000806" "g.94463583A>G" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.93998027A>G" "" "pathogenic (recessive)" ""
"0000899891" "2" "90" "1" "94497591" "94497591" "subst" "0" "04206" "ABCA4_000587" "g.94497591G>A" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94032035G>A" "" "pathogenic (recessive)" ""
"0000899893" "2" "90" "1" "94506819" "94506819" "subst" "0" "04206" "ABCA4_001426" "g.94506819G>C" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94041263G>C" "" "pathogenic (recessive)" ""
"0000899894" "2" "90" "1" "94508891" "94508891" "subst" "0" "04206" "ABCA4_001945" "g.94508891C>G" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94043335C>G" "" "pathogenic (recessive)" ""
"0000899896" "2" "90" "1" "94520830" "94520830" "subst" "0" "04206" "ABCA4_000727" "g.94520830G>C" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94055274G>C" "" "pathogenic (recessive)" ""
"0000899897" "2" "90" "1" "94463583" "94463583" "subst" "8.12183E-6" "04206" "ABCA4_000806" "g.94463583A>G" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.93998027A>G" "" "pathogenic (recessive)" ""
"0000899898" "2" "90" "1" "94510303" "94510304" "ins" "0" "04206" "ABCA4_001304" "g.94510303_94510304insTGTTTGGACCTG" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94044747_94044748insTGTTTGGACCTG" "" "pathogenic (recessive)" ""
"0000899899" "2" "90" "1" "94502907" "94502907" "subst" "0" "04206" "ABCA4_001883" "g.94502907C>G" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94037351C>G" "" "pathogenic (recessive)" ""
"0000899900" "2" "90" "1" "94480151" "94480151" "subst" "0" "04206" "ABCA4_002419" "g.94480151C>T" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94014595C>T" "" "pathogenic (recessive)" ""
"0000899901" "2" "90" "1" "94463583" "94463583" "subst" "8.12183E-6" "04206" "ABCA4_000806" "g.94463583A>G" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.93998027A>G" "" "pathogenic (recessive)" ""
"0000899902" "2" "90" "1" "94463583" "94463583" "subst" "8.12183E-6" "04206" "ABCA4_000806" "g.94463583A>G" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.93998027A>G" "" "pathogenic (recessive)" ""
"0000899903" "2" "90" "1" "94473214" "94473214" "subst" "0" "04206" "ABCA4_001633" "g.94473214C>T" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94007658C>T" "" "pathogenic (recessive)" ""
"0000899904" "2" "90" "1" "94486812" "94486812" "subst" "0" "04206" "ABCA4_002423" "g.94486812G>C" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94021256G>C" "" "pathogenic (recessive)" ""
"0000899905" "2" "90" "1" "94463583" "94463583" "subst" "8.12183E-6" "04206" "ABCA4_000806" "g.94463583A>G" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.93998027A>G" "" "pathogenic (recessive)" ""
"0000899906" "2" "90" "1" "94520816" "94520816" "subst" "0" "04206" "ABCA4_002442" "g.94520816T>A" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94055260T>A" "" "pathogenic (recessive)" ""
"0000899907" "2" "90" "1" "94463583" "94463583" "subst" "8.12183E-6" "04206" "ABCA4_000806" "g.94463583A>G" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.93998027A>G" "" "pathogenic (recessive)" ""
"0000899909" "2" "90" "1" "94514522" "94514522" "subst" "4.0627E-6" "04206" "ABCA4_002440" "g.94514522A>G" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94048966A>G" "" "pathogenic (recessive)" ""
"0000899910" "2" "90" "1" "94474365" "94474365" "subst" "0" "04206" "ABCA4_001657" "g.94474365T>G" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94008809T>G" "" "pathogenic (recessive)" ""
"0000899911" "2" "90" "1" "94467413" "94467413" "subst" "8.12612E-6" "04206" "ABCA4_000131" "g.94467413C>G" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94001857C>G" "" "pathogenic (recessive)" ""
"0000899912" "2" "90" "1" "94485234" "94485234" "subst" "0" "04206" "ABCA4_001282" "g.94485234A>C" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94019678A>C" "" "pathogenic (recessive)" ""
"0000899915" "2" "90" "1" "94466655" "94466655" "subst" "0" "04206" "ABCA4_000842" "g.94466655G>A" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94001099G>A" "" "pathogenic (recessive)" ""
"0000899916" "2" "90" "1" "94463421" "94463421" "del" "0" "04206" "ABCA4_002410" "g.94463421del" "" "{PMID:Tian 2024:37774808}" "" "6725delA" "" "Germline" "yes" "" "0" "" "" "g.93997865del" "" "pathogenic (recessive)" ""
"0000899917" "2" "90" "1" "94546116" "94546116" "subst" "0" "04206" "ABCA4_002447" "g.94546116C>A" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94080560C>A" "" "pathogenic (recessive)" ""
"0000899918" "2" "90" "1" "94526194" "94526194" "dup" "0" "04206" "ABCA4_001308" "g.94526194dup" "" "{PMID:Tian 2024:37774808}" "" "2063dupA" "" "Germline" "yes" "" "0" "" "" "g.94060638dup" "" "pathogenic (recessive)" ""
"0000899919" "2" "90" "1" "94463583" "94463583" "subst" "8.12183E-6" "04206" "ABCA4_000806" "g.94463583A>G" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.93998027A>G" "" "pathogenic (recessive)" ""
"0000899921" "2" "90" "1" "94463583" "94463583" "subst" "8.12183E-6" "04206" "ABCA4_000806" "g.94463583A>G" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.93998027A>G" "" "pathogenic (recessive)" ""
"0000899923" "2" "90" "1" "94463583" "94463583" "subst" "8.12183E-6" "04206" "ABCA4_000806" "g.94463583A>G" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.93998027A>G" "" "pathogenic (recessive)" ""
"0000899924" "2" "90" "1" "94506811" "94506811" "subst" "0" "04206" "ABCA4_001295" "g.94506811A>G" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94041255A>G" "" "pathogenic (recessive)" ""
"0000899925" "2" "90" "1" "94463583" "94463583" "subst" "8.12183E-6" "04206" "ABCA4_000806" "g.94463583A>G" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.93998027A>G" "" "pathogenic (recessive)" ""
"0000899926" "2" "90" "1" "94463583" "94463583" "subst" "8.12183E-6" "04206" "ABCA4_000806" "g.94463583A>G" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.93998027A>G" "" "pathogenic (recessive)" ""
"0000899927" "2" "90" "1" "94544888" "94544888" "subst" "0" "04206" "ABCA4_001317" "g.94544888A>G" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94079332A>G" "" "pathogenic (recessive)" ""
"0000899929" "2" "90" "1" "94490567" "94490567" "subst" "5.68528E-5" "04206" "ABCA4_000026" "g.94490567G>A" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94025011G>A" "" "pathogenic (recessive)" ""
"0000899930" "2" "90" "1" "94480232" "94480232" "subst" "0" "04206" "ABCA4_000444" "g.94480232G>A" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94014676G>A" "" "pathogenic (recessive)" ""
"0000899931" "2" "90" "1" "94480241" "94480241" "subst" "7.71705E-5" "04206" "ABCA4_000446" "g.94480241G>A" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94014685G>A" "" "pathogenic (recessive)" ""
"0000899932" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "04206" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000899933" "2" "90" "1" "94497417" "94497417" "subst" "0" "04206" "ABCA4_001854" "g.94497417G>A" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94031861G>A" "" "pathogenic (recessive)" ""
"0000899934" "2" "90" "1" "94471026" "94471026" "subst" "1.21925E-5" "04206" "ABCA4_000791" "g.94471026G>A" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94005470G>A" "" "pathogenic (recessive)" ""
"0000899935" "2" "90" "1" "94485240" "94485240" "del" "0" "04206" "ABCA4_001731" "g.94485240del" "" "{PMID:Tian 2024:37774808}" "" "5095delC" "" "Germline" "yes" "" "0" "" "" "g.94019684del" "" "pathogenic (recessive)" ""
"0000899936" "2" "90" "1" "94471119" "94471119" "subst" "0" "04206" "ABCA4_002415" "g.94471119C>A" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94005563C>A" "" "pathogenic (recessive)" ""
"0000899937" "2" "90" "1" "94526295" "94526295" "subst" "3.69731E-5" "04206" "ABCA4_000114" "g.94526295C>T" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94060739C>T" "" "pathogenic (recessive)" ""
"0000899938" "2" "90" "1" "94546127" "94546127" "del" "0" "04206" "ABCA4_001320" "g.94546127del" "" "{PMID:Tian 2024:37774808}" "" "1006delT" "" "Germline" "yes" "" "0" "" "" "g.94080571del" "" "pathogenic (recessive)" ""
"0000899941" "2" "90" "1" "94495062" "94495062" "del" "0" "04206" "ABCA4_002429" "g.94495062del" "" "{PMID:Tian 2024:37774808}" "" "4480delG" "" "Germline" "yes" "" "0" "" "" "g.94029506del" "" "pathogenic (recessive)" ""
"0000899942" "2" "90" "1" "94508326" "94508326" "dup" "0" "04206" "ABCA4_002435" "g.94508326dup" "" "{PMID:Tian 2024:37774808}" "" "3319dupT" "" "Germline" "yes" "" "0" "" "" "g.94042770dup" "" "pathogenic (recessive)" ""
"0000899944" "2" "90" "1" "94528868" "94528868" "del" "0" "04206" "ABCA4_000304" "g.94528868del" "" "{PMID:Tian 2024:37774808}" "" "1561delG" "" "Germline" "yes" "" "0" "" "" "g.94063312del" "" "pathogenic (recessive)" ""
"0000899945" "2" "90" "1" "94463452" "94463452" "subst" "0" "04206" "ABCA4_001274" "g.94463452C>A" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.93997896C>A" "" "pathogenic (recessive)" ""
"0000899946" "2" "90" "1" "94522344" "94522344" "subst" "0" "04206" "ABCA4_002444" "g.94522344A>T" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94056788A>T" "" "pathogenic (recessive)" ""
"0000899947" "2" "90" "1" "94463583" "94463583" "subst" "8.12183E-6" "04206" "ABCA4_000806" "g.94463583A>G" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.93998027A>G" "" "pathogenic (recessive)" ""
"0000899948" "2" "90" "1" "94466558" "94466558" "subst" "0" "04206" "ABCA4_001011" "g.94466558C>T" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94001002C>T" "" "pathogenic (recessive)" ""
"0000899949" "2" "90" "1" "94505684" "94505684" "del" "0" "04206" "ABCA4_001892" "g.94505684del" "" "{PMID:Tian 2024:37774808}" "" "3525delG" "" "Germline" "yes" "" "0" "" "" "g.94040128del" "" "pathogenic (recessive)" ""
"0000899950" "2" "90" "1" "94463513" "94463514" "ins" "0" "04206" "ABCA4_002411" "g.94463513_94463514insCTCGCCAGG" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.93997957_93997958insCTCGCCAGG" "" "pathogenic (recessive)" ""
"0000899951" "2" "90" "1" "94520830" "94520830" "subst" "0" "04206" "ABCA4_000727" "g.94520830G>C" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94055274G>C" "" "pathogenic (recessive)" ""
"0000899952" "2" "90" "1" "94463583" "94463583" "subst" "8.12183E-6" "04206" "ABCA4_000806" "g.94463583A>G" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.93998027A>G" "" "pathogenic (recessive)" ""
"0000899953" "2" "90" "1" "94512522" "94512542" "del" "0" "04206" "ABCA4_001113" "g.94512522_94512542del" "" "{PMID:Tian 2024:37774808}" "" "2857_2877delTTCTACGAGAACCAGATCACC" "" "Germline" "yes" "" "0" "" "" "g.94046966_94046986del" "" "pathogenic (recessive)" ""
"0000899954" "2" "90" "1" "94506865" "94506865" "subst" "0" "04206" "ABCA4_002433" "g.94506865G>T" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94041309G>T" "" "pathogenic (recessive)" ""
"0000899955" "2" "90" "1" "94497386" "94497386" "subst" "0" "04206" "ABCA4_002334" "g.94497386A>G" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94031830A>G" "" "pathogenic (recessive)" ""
"0000899956" "2" "90" "1" "94520830" "94520830" "subst" "0" "04206" "ABCA4_000727" "g.94520830G>C" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94055274G>C" "" "pathogenic (recessive)" ""
"0000899957" "2" "70" "1" "94520870" "94520870" "subst" "0" "04206" "ABCA4_001375" "g.94520870C>A" "" "{PMID:Tian 2024:37774808}" "" "[2384G>T;3191G>A]" "" "Germline" "yes" "" "0" "" "" "g.94055314C>A" "" "likely pathogenic (recessive)" ""
"0000899958" "2" "90" "1" "94577530" "94577530" "subst" "0" "04206" "ABCA4_002453" "g.94577530C>T" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94111974C>T" "" "pathogenic (recessive)" ""
"0000899959" "2" "90" "1" "94486812" "94486812" "subst" "0" "04206" "ABCA4_002423" "g.94486812G>C" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "" "" "0" "" "" "g.94021256G>C" "" "pathogenic (recessive)" ""
"0000899960" "2" "90" "1" "94466391" "94466391" "subst" "0" "04206" "ABCA4_000813" "g.94466391C>G" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94000835C>G" "" "pathogenic (recessive)" ""
"0000899961" "2" "90" "1" "94528868" "94528868" "del" "0" "04206" "ABCA4_000304" "g.94528868del" "" "{PMID:Tian 2024:37774808}" "" "1561delG" "" "Germline" "yes" "" "0" "" "" "g.94063312del" "" "pathogenic (recessive)" ""
"0000899962" "2" "90" "1" "94514518" "94514518" "subst" "0" "04206" "ABCA4_002439" "g.94514518A>C" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94048962A>C" "" "pathogenic (recessive)" ""
"0000899963" "2" "90" "1" "94485137" "94485137" "subst" "0" "04206" "ABCA4_000464" "g.94485137C>T" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94019581C>T" "" "pathogenic (recessive)" ""
"0000899964" "2" "90" "1" "94467467" "94467467" "subst" "4.06164E-6" "04206" "ABCA4_000780" "g.94467467G>A" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94001911G>A" "" "pathogenic (recessive)" ""
"0000899965" "2" "90" "1" "94508341" "94508341" "subst" "1.21857E-5" "04206" "ABCA4_001298" "g.94508341C>A" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94042785C>A" "" "pathogenic (recessive)" ""
"0000899966" "2" "90" "1" "94490567" "94490567" "subst" "5.68528E-5" "04206" "ABCA4_000026" "g.94490567G>A" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94025011G>A" "" "pathogenic (recessive)" ""
"0000899967" "2" "90" "1" "94508358" "94508358" "subst" "4.06167E-6" "04206" "ABCA4_000636" "g.94508358G>A" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94042802G>A" "" "pathogenic (recessive)" ""
"0000899968" "2" "90" "1" "94463583" "94463583" "subst" "8.12183E-6" "04206" "ABCA4_000806" "g.94463583A>G" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.93998027A>G" "" "pathogenic (recessive)" ""
"0000899969" "2" "90" "1" "94520830" "94520830" "subst" "0" "04206" "ABCA4_000727" "g.94520830G>C" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94055274G>C" "" "pathogenic (recessive)" ""
"0000899970" "2" "90" "1" "94471056" "94471056" "subst" "2.84398E-5" "04206" "ABCA4_000050" "g.94471056G>A" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94005500G>A" "" "pathogenic (recessive)" ""
"0000899971" "2" "90" "1" "94510300" "94510301" "ins" "0" "04206" "ABCA4_001972" "g.94510300_94510301insTGTGTTTGGCC" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "" "" "0" "" "" "g.94044744_94044745insTGTGTTTGGCC" "" "pathogenic (recessive)" ""
"0000899972" "2" "90" "1" "94546099" "94546099" "subst" "0" "04206" "ABCA4_001390" "g.94546099T>G" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94080543T>G" "" "pathogenic (recessive)" ""
"0000899973" "2" "90" "1" "94480232" "94480232" "subst" "0" "04206" "ABCA4_000444" "g.94480232G>A" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94014676G>A" "" "pathogenic (recessive)" ""
"0000899974" "2" "90" "1" "94526194" "94526194" "dup" "0" "04206" "ABCA4_001308" "g.94526194dup" "" "{PMID:Tian 2024:37774808}" "" "2063dupA" "" "Germline" "yes" "" "0" "" "" "g.94060638dup" "" "pathogenic (recessive)" ""
"0000899975" "2" "90" "1" "94520830" "94520830" "subst" "0" "04206" "ABCA4_000727" "g.94520830G>C" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94055274G>C" "" "pathogenic (recessive)" ""
"0000899976" "2" "90" "1" "94505685" "94505685" "subst" "0" "04206" "ABCA4_001893" "g.94505685T>C" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94040129T>C" "" "pathogenic (recessive)" ""
"0000899977" "2" "90" "1" "94473266" "94473266" "subst" "8.14677E-6" "04206" "ABCA4_000389" "g.94473266C>T" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94007710C>T" "" "pathogenic (recessive)" ""
"0000899978" "2" "90" "1" "94487200" "94487200" "dup" "0" "04206" "ABCA4_002427" "g.94487200dup" "" "{PMID:Tian 2024:37774808}" "" "4845dupT" "" "Germline" "yes" "" "0" "" "" "g.94021644dup" "" "pathogenic (recessive)" ""
"0000899979" "2" "90" "1" "94471094" "94471094" "subst" "0" "04206" "ABCA4_001629" "g.94471094C>T" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "" "" "0" "" "" "g.94005538C>T" "" "pathogenic (recessive)" ""
"0000899980" "2" "90" "1" "94471025" "94471025" "subst" "0.00031698" "04206" "ABCA4_000096" "g.94471025C>T" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "" "" "0" "" "" "g.94005469C>T" "" "pathogenic (recessive)" ""
"0000899981" "2" "90" "1" "94510300" "94510301" "ins" "0" "04206" "ABCA4_001972" "g.94510300_94510301insTGTGTTTGGCC" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94044744_94044745insTGTGTTTGGCC" "" "pathogenic (recessive)" ""
"0000899982" "2" "90" "1" "94496084" "94496084" "subst" "0" "04206" "ABCA4_000011" "g.94496084T>C" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94030528T>C" "" "pathogenic (recessive)" ""
"0000899983" "2" "90" "1" "94512499" "94512499" "subst" "0.000130029" "04206" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94046943T>C" "" "pathogenic (recessive)" ""
"0000899984" "2" "90" "1" "94485137" "94485137" "subst" "0" "04206" "ABCA4_000464" "g.94485137C>T" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94019581C>T" "" "pathogenic (recessive)" ""
"0000899985" "2" "70" "1" "94546261" "94546261" "subst" "0.000648567" "04206" "ABCA4_000353" "g.94546261G>A" "" "{PMID:Tian 2024:37774808}" "" "[872C>T;6006-1G>A]" "" "Germline" "yes" "" "0" "" "" "g.94080705G>A" "" "likely pathogenic (recessive)" ""
"0000899986" "2" "90" "1" "94526271" "94526271" "subst" "0" "04206" "ABCA4_001309" "g.94526271A>C" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94060715A>C" "" "pathogenic (recessive)" ""
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"0000899990" "2" "90" "1" "94471026" "94471026" "subst" "1.21925E-5" "04206" "ABCA4_000791" "g.94471026G>A" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94005470G>A" "" "pathogenic (recessive)" ""
"0000899991" "2" "90" "1" "94481411" "94481411" "subst" "0" "04206" "ABCA4_001718" "g.94481411C>T" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94015855C>T" "" "pathogenic (recessive)" ""
"0000899992" "2" "90" "1" "94512499" "94512499" "subst" "0.000130029" "04206" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94046943T>C" "" "pathogenic (recessive)" ""
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"0000899996" "2" "70" "1" "94508976" "94508976" "subst" "1.21906E-5" "04206" "ABCA4_000655" "g.94508976C>T" "" "{PMID:Tian 2024:37774808}" "" "[983A>T;3106G>A]" "" "Germline" "yes" "" "0" "" "" "g.94043420C>T" "" "likely pathogenic (recessive)" ""
"0000899998" "1" "70" "1" "94546116" "94546116" "subst" "0" "04206" "ABCA4_001319" "g.94546116C>T" "" "{PMID:Tian 2024:37774808}" "" "[959C>G;1017G>A]" "" "Germline" "yes" "" "0" "" "" "g.94080560C>T" "" "likely pathogenic (recessive)" ""
"0000899999" "2" "70" "1" "94508976" "94508976" "subst" "1.21906E-5" "04206" "ABCA4_000655" "g.94508976C>T" "" "{PMID:Tian 2024:37774808}" "" "[983A>T;3106G>A]" "" "Germline" "yes" "" "0" "" "" "g.94043420C>T" "" "likely pathogenic (recessive)" ""
"0000900000" "2" "70" "1" "94508976" "94508976" "subst" "1.21906E-5" "04206" "ABCA4_000655" "g.94508976C>T" "" "{PMID:Tian 2024:37774808}" "" "[983A>T;3106G>A]" "" "Germline" "yes" "" "0" "" "" "g.94043420C>T" "" "likely pathogenic (recessive)" ""
"0000900001" "2" "70" "1" "94473808" "94473808" "subst" "8.52861E-5" "04206" "ABCA4_000196" "g.94473808C>T" "" "{PMID:Tian 2024:37774808}" "" "[1609C>T;5881G>A]" "" "Germline" "yes" "" "0" "" "" "g.94008252C>T" "" "likely pathogenic (recessive)" ""
"0000900003" "1" "70" "1" "94508976" "94508976" "subst" "1.21906E-5" "04206" "ABCA4_000655" "g.94508976C>T" "" "{PMID:Tian 2024:37774808}" "" "[983A>T;3106G>A]" "" "Germline" "yes" "" "0" "" "" "g.94043420C>T" "" "likely pathogenic (recessive)" ""
"0000900004" "1" "70" "1" "94471017" "94471017" "subst" "8.12836E-6" "04206" "ABCA4_001618" "g.94471017G>A" "" "{PMID:Tian 2024:37774808}" "" "[1531C>T;6127C>T]" "" "Germline" "yes" "" "0" "" "" "g.94005461G>A" "" "likely pathogenic (recessive)" ""
"0000900005" "1" "70" "1" "94471025" "94471025" "subst" "0.00031698" "04206" "ABCA4_000096" "g.94471025C>T" "" "{PMID:Tian 2024:37774808}" "" "[1933G>A;6119G>A]" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.94005469C>T" "" "likely pathogenic (recessive)" ""
"0000900006" "2" "70" "1" "94471040" "94471040" "del" "0" "04206" "ABCA4_001623" "g.94471040del" "" "{PMID:Tian 2024:37774808}" "" "[6068T>C;6106delT]" "" "Germline" "" "" "0" "" "" "g.94005484del" "" "likely pathogenic (recessive)" ""
"0000900007" "2" "70" "1" "94495032" "94495032" "subst" "0" "04206" "ABCA4_001805" "g.94495032G>A" "" "{PMID:Tian 2024:37774808}" "" "[4352+1G>A;4508C>T]" "" "Germline" "yes" "" "0" "" "" "g.94029476G>A" "" "likely pathogenic (recessive)" ""
"0000900008" "2" "70" "1" "94495104" "94495104" "subst" "0" "04206" "ABCA4_001216" "g.94495104C>T" "" "{PMID:Tian 2024:37774808}" "" "[1906C>A;4436G>A;4508C>T]" "" "Germline" "yes" "" "0" "" "" "g.94029548C>T" "" "likely pathogenic (recessive)" ""
"0000900009" "1" "70" "1" "94476875" "94476875" "subst" "1.62489E-5" "04206" "ABCA4_001280" "g.94476875G>A" "" "{PMID:Tian 2024:37774808}" "" "[983A>T;5527C>T]" "" "Germline" "yes" "" "0" "" "" "g.94011319G>A" "" "likely pathogenic (recessive)" ""
"0000900010" "1" "70" "1" "94476901" "94476901" "subst" "6.50005E-5" "04206" "ABCA4_001486" "g.94476901A>G" "" "{PMID:Tian 2024:37774808}" "" "[1933G>A;5501T>C]" "" "Germline" "yes" "" "0" "" "" "g.94011345A>G" "" "likely pathogenic (recessive)" ""
"0000900011" "1" "70" "1" "94508976" "94508976" "subst" "1.21906E-5" "04206" "ABCA4_000655" "g.94508976C>T" "" "{PMID:Tian 2024:37774808}" "" "[983A>T;3106G>A]" "" "Germline" "yes" "" "0" "" "" "g.94043420C>T" "" "likely pathogenic (recessive)" ""
"0000900012" "1" "70" "1" "94471025" "94471025" "subst" "0.00031698" "04206" "ABCA4_000096" "g.94471025C>T" "" "{PMID:Tian 2024:37774808}" "" "[1099+1G>A;6119G>A]" "" "Germline" "yes" "" "0" "" "" "g.94005469C>T" "" "likely pathogenic (recessive)" ""
"0000900013" "1" "70" "1" "94508976" "94508976" "subst" "1.21906E-5" "04206" "ABCA4_000655" "g.94508976C>T" "" "{PMID:Tian 2024:37774808}" "" "[983A>T;3106G>A]" "" "Germline" "yes" "" "0" "" "" "g.94043420C>T" "" "likely pathogenic (recessive)" ""
"0000900014" "1" "70" "1" "94508976" "94508976" "subst" "1.21906E-5" "04206" "ABCA4_000655" "g.94508976C>T" "" "{PMID:Tian 2024:37774808}" "" "[983A>T;3106G>A]" "" "Germline" "yes" "" "0" "" "" "g.94043420C>T" "" "likely pathogenic (recessive)" ""
"0000900015" "1" "70" "1" "94528818" "94528818" "subst" "0.00205975" "04206" "ABCA4_001239" "g.94528818C>T" "" "{PMID:Tian 2024:37774808}" "" "[83A>C;1610G>A]" "" "Germline" "yes" "" "0" "" "" "g.94063262C>T" "" "likely pathogenic (recessive)" ""
"0000900016" "1" "70" "1" "94508976" "94508976" "subst" "1.21906E-5" "04206" "ABCA4_000655" "g.94508976C>T" "" "{PMID:Tian 2024:37774808}" "" "[983A>T;3106G>A]" "" "Germline" "yes" "" "0" "" "" "g.94043420C>T" "" "likely pathogenic (recessive)" ""
"0000900017" "1" "70" "1" "94508976" "94508976" "subst" "1.21906E-5" "04206" "ABCA4_000655" "g.94508976C>T" "" "{PMID:Tian 2024:37774808}" "" "[983A>T;3106G>A]" "" "Germline" "yes" "" "0" "" "" "g.94043420C>T" "" "likely pathogenic (recessive)" ""
"0000900018" "2" "70" "1" "94508454" "94508454" "subst" "0" "04206" "ABCA4_002436" "g.94508454C>T" "" "{PMID:Tian 2024:37774808}" "" "[2384G>T;3191G>A]" "" "Germline" "yes" "" "0" "" "" "g.94042898C>T" "" "likely pathogenic (recessive)" ""
"0000900019" "1" "70" "1" "94508976" "94508976" "subst" "1.21906E-5" "04206" "ABCA4_000655" "g.94508976C>T" "" "{PMID:Tian 2024:37774808}" "" "[983A>T;3106G>A]" "" "Germline" "yes" "" "0" "" "" "g.94043420C>T" "" "likely pathogenic (recessive)" ""
"0000900020" "1" "70" "1" "94528780" "94528780" "subst" "4.06171E-6" "04206" "ABCA4_000299" "g.94528780C>T" "" "{PMID:Tian 2024:37774808}" "" "[1555T>C;1648G>A]" "" "Germline" "" "" "0" "" "" "g.94063224C>T" "" "likely pathogenic (recessive)" ""
"0000900021" "2" "70" "1" "94471139" "94471139" "subst" "0" "04206" "ABCA4_001372" "g.94471139C>T" "" "{PMID:Tian 2024:37774808}" "" "[872C>T;6006-1G>A]" "" "Germline" "yes" "" "0" "" "" "g.94005583C>T" "" "likely pathogenic (recessive)" ""
"0000900022" "1" "70" "1" "94508976" "94508976" "subst" "1.21906E-5" "04206" "ABCA4_000655" "g.94508976C>T" "" "{PMID:Tian 2024:37774808}" "" "[983A>T;3106G>A]" "" "Germline" "yes" "" "0" "" "" "g.94043420C>T" "" "likely pathogenic (recessive)" ""
"0000900023" "1" "70" "1" "94497349" "94497349" "subst" "0" "04206" "ABCA4_001849" "g.94497349C>A" "" "{PMID:Tian 2024:37774808}" "" "[517delC;4113G>T]" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.94031793C>A" "" "likely pathogenic (recessive)" ""
"0000900024" "2" "70" "1" "94495032" "94495032" "subst" "0" "04206" "ABCA4_001805" "g.94495032G>A" "" "{PMID:Tian 2024:37774808}" "" "[1906C>A;4436G>A;4508C>T]" "" "Germline" "yes" "" "0" "" "" "g.94029476G>A" "" "likely pathogenic (recessive)" ""
"0000900728" "0" "90" "1" "94512499" "94512499" "subst" "0.000130029" "00000" "ABCA4_000072" "g.94512499T>C" "" "Shroyer 2001, Webster 2001" "" "c.2894A>G p.(Asn965Ser)" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000900729" "0" "90" "1" "94466619" "94466625" "del" "0" "00000" "ABCA4_000837" "g.94466619_94466625del" "" "Zernant 2011" "" "c.6319_6325del p.(Arg2107Cysfs*6)" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000900730" "0" "90" "1" "94495003" "94495003" "dup" "0" "00000" "ABCA4_000087" "g.94495003dup" "" "Briggs 2001" "" "c.4537dup p.(Gln1513Profs*42)" "" "Germline" "-" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000900731" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "Webster 2001, Aguirre-Lamban 2011" "" "c.5603A>T p.(Asn1868Ile)" "" "Germline" "-" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000900732" "0" "90" "1" "94511126" "94511126" "subst" "0" "00000" "ABCA4_001257" "g.94511126A>T" "" "Fadaie 2019" "" "c.2919-826T>A" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000900733" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "00000" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Khan 2020:32307445}" "" "c.3386G>T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
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"0000900735" "0" "90" "1" "94564009" "94564419" "del" "0" "00000" "ABCA4_002170" "g.94564009_94564419del" "" "{PMID:Khan 2020:32307445}" "" "c.699_768+341del" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
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"0000900738" "0" "90" "1" "94466624" "94466624" "subst" "0.0014345" "00000" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Khan 2020:32307445}" "" "c.6320G>A" "" "Unknown" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000900739" "0" "90" "1" "94564009" "94564419" "del" "0" "00000" "ABCA4_002170" "g.94564009_94564419del" "" "{PMID:Khan 2020:32307445}" "" "c.699_768+341del" "" "Unknown" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000900740" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Khan 2020:32307445}" "" "c.5882G>A" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000900741" "0" "90" "1" "94492937" "94492937" "subst" "0" "00000" "ABCA4_000529" "g.94492937G>A" "" "Bauwens 2019" "" "c.4539+2064C>T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000900742" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Khan 2020:32307445}" "" "c.5882G>A" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000900743" "0" "90" "1" "94492937" "94492937" "subst" "0" "00000" "ABCA4_000529" "g.94492937G>A" "" "Bauwens 2019" "" "c.4539+2064C>T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000900744" "0" "70" "1" "94506923" "94506923" "subst" "2.43657E-5" "00000" "ABCA4_000012" "g.94506923C>T" "" "{PMID:Khan 2020:32307445}" "" "c.3364G>A" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000900745" "0" "70" "1" "94496509" "94496509" "subst" "0.00475243" "00000" "ABCA4_001024" "g.94496509C>T" "" "Sangermano 2019" "" "c.4253+43G>A" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000900746" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "00000" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Khan 2020:32307445}" "" "c.3386G>T" "" "Unknown" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000900747" "0" "70" "1" "94528761" "94528761" "subst" "0" "00000" "ABCA4_002093" "g.94528761A>C" "" "{PMID:Khan 2020:32307445}" "" "c.1667T>G" "" "Unknown" "yes" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000900748" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Khan 2020:32307445}" "" "c.5882G>A" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000900749" "0" "70" "1" "94528304" "94528304" "subst" "0" "00000" "ABCA4_002498" "g.94528304C>G" "" "{PMID:Khan 2020:32307445}" "" "c.1766G>C" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000900750" "0" "90" "1" "94528251" "94528251" "subst" "0" "00000" "ABCA4_000077" "g.94528251C>G" "" "{PMID:Khan 2020:32307445}" "" "c.1819G>C" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000900751" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000900752" "0" "70" "1" "94522386" "94522386" "subst" "0" "00000" "ABCA4_000746" "g.94522386C>T" "" "Fadaie 2019" "" "c.2161-8G>A" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000900753" "0" "90" "1" "94517229" "94517229" "subst" "0" "00000" "ABCA4_002004" "g.94517229C>T" "" "{PMID:Khan 2020:32307445}" "" "c.2613G>A" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000900754" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "00000" "ABCA4_000045" "g.94564350C>A" "" "Sangermano 2018" "" "c.768G>T" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000900755" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000900756" "1" "90" "1" "94476951" "94476951" "subst" "0.000236097" "00000" "ABCA4_000025" "g.94476951A>G" "" "Sangermano,2016; 2018" "" "c.[5461-10T>C;5603A>T]" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000900757" "2" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.[5461-10T>C;5603A>T]" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000900758" "0" "90" "1" "94487441" "94487441" "del" "0" "00000" "ABCA4_000503" "g.94487441del" "" "{PMID:Khan 2020:32307445}" "" "c.4734del" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000900759" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Khan 2020:32307445}" "" "c.5882G>A" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000900760" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "00000" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Khan 2020:32307445}" "" "c.3386G>T" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000900761" "0" "50" "1" "94473287" "94473287" "subst" "0.00293818" "00000" "ABCA4_000395" "g.94473287G>A" "" "{PMID:Khan 2020:32307445}" "" "c.5908C>T" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "VUS" ""
"0000900762" "0" "70" "1" "94496548" "94496548" "subst" "2.43787E-5" "00000" "ABCA4_000088" "g.94496548G>A" "" "Sangermano 2018" "" "c.4253+4C>T" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000900763" "0" "70" "1" "94496509" "94496509" "subst" "0.00475243" "00000" "ABCA4_001024" "g.94496509C>T" "" "Sangermano 2019" "" "c.4253+43G>A" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000900764" "1" "70" "1" "94546118" "94546118" "subst" "8.13326E-6" "00000" "ABCA4_000082" "g.94546118A>C" "" "{PMID:Khan 2020:32307445}" "" "c.[1015T>G;5603A>T]" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000900765" "0" "70" "1" "94549781" "94549781" "subst" "0" "00000" "ABCA4_001046" "g.94549781G>A" "" "Sangermano 2019" "" "c.769-784C>T" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000900766" "1" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.[1015T>G;5603A>T]" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000900767" "3" "90" "1" "94492937" "94492937" "subst" "0" "00000" "ABCA4_000529" "g.94492937G>A" "" "Bauwens 2019" "" "c.4539+2064C>T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000900768" "3" "90" "1" "94492937" "94492937" "subst" "0" "00000" "ABCA4_000529" "g.94492937G>A" "" "Bauwens 2019" "" "c.4539+2064C>T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000900769" "1" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "00000" "ABCA4_000997" "g.94495071C>T" "" "{PMID:Khan 2020:32307445}" "" "c.[4469G>A;5603A>T]" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000900770" "3" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000900771" "3" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.[4469G>A;5603A>T]" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000900772" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Khan 2020:32307445}" "" "c.5882G>A" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000900773" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Khan 2020:32307445}" "" "c.5882G>A" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000900774" "0" "70" "1" "94473266" "94473266" "subst" "8.14677E-6" "00000" "ABCA4_000389" "g.94473266C>T" "" "{PMID:Khan 2020:32307445}" "" "c.5929G>A" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000900775" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000900776" "3" "70" "1" "94506805" "94506805" "subst" "2.03051E-5" "00000" "ABCA4_001294" "g.94506805C>T" "" "{PMID:Khan 2020:32307445}" "" "c.3482G>A" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000900777" "3" "70" "1" "94506805" "94506805" "subst" "2.03051E-5" "00000" "ABCA4_001294" "g.94506805C>T" "" "{PMID:Khan 2020:32307445}" "" "c.3482G>A" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000900778" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000900779" "0" "70" "1" "94549781" "94549781" "subst" "0" "00000" "ABCA4_001046" "g.94549781G>A" "" "Sangermano 2019" "" "c.769-784C>T" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000900780" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "00000" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Khan 2020:32307445}" "" "c.4139C>T(;)5882G>A" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000900781" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Khan 2020:32307445}" "" "c.4139C>T(;)5882G>A" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000900782" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Khan 2020:32307445}" "" "c.5882G>A" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000900783" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "00000" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Khan 2020:32307445}" "" "c.3322C>T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000900784" "0" "90" "1" "94486794" "94486794" "subst" "0" "00000" "ABCA4_000478" "g.94486794A>G" "" "{PMID:Khan 2020:32307445}" "" "c.5018+2T>C" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000900785" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "00000" "ABCA4_000996" "g.94476351C>T" "" "Sangermano 2018" "" "c.5714+5G>A" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000900786" "0" "50" "1" "94528224" "94528224" "subst" "0" "00000" "ABCA4_000275" "g.94528224C>T" "" "{PMID:Khan 2020:32307445}" "" "c.1846G>A" "" "Unknown" "" "" "0" "" "" "" "" "VUS" ""
"0000900787" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Khan 2020:32307445}" "" "c.5882G>A" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000900788" "0" "50" "1" "94528224" "94528224" "subst" "0" "00000" "ABCA4_000275" "g.94528224C>T" "" "{PMID:Khan 2020:32307445}" "" "c.1846G>A" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "VUS" ""
"0000900789" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "00000" "ABCA4_000034" "g.94517254C>G" "" "Maugeri 1999; Sangermano 2018" "" "c.2588G>C" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000900790" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "00000" "ABCA4_000034" "g.94517254C>G" "" "Maugeri 1999; Sangermano 2018" "" "c.2588G>C" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000900791" "0" "50" "1" "94481372" "94481372" "subst" "1.21979E-5" "00000" "ABCA4_002470" "g.94481372G>C" "" "{PMID:Khan 2020:32307445}" "" "c.5235C>G" "" "Unknown" "?" "" "0" "" "" "" "" "VUS" ""
"0000900792" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000900793" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Khan 2020:32307445}" "" "c.5882G>A" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000900794" "0" "90" "1" "94492937" "94492937" "subst" "0" "00000" "ABCA4_000529" "g.94492937G>A" "" "Bauwens 2019" "" "c.4539+2064C>T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000900795" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Khan 2020:32307445}" "" "c.5882G>A" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000900796" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Khan 2020:32307445}" "" "c.5882G>A" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000900797" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Khan 2020:32307445}" "" "c.5882G>A" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000900798" "0" "50" "1" "94528224" "94528224" "subst" "0" "00000" "ABCA4_000275" "g.94528224C>T" "" "{PMID:Khan 2020:32307445}" "" "c.1846G>A" "" "Unknown" "" "" "0" "" "" "" "" "VUS" ""
"0000900799" "0" "90" "1" "94486794" "94486794" "subst" "0" "00000" "ABCA4_000478" "g.94486794A>G" "" "{PMID:Khan 2020:32307445}" "" "c.5018+2T>C" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000900800" "0" "90" "1" "94564548" "94564548" "subst" "0" "00000" "ABCA4_000197" "g.94564548C>A" "" "{PMID:Khan 2020:32307445}" "" "c.571-1G>T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000900801" "0" "90" "1" "94564484" "94564484" "subst" "0.000110199" "00000" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Khan 2020:32307445}" "" "c.634C>T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000900802" "0" "70" "1" "94577010" "94577010" "subst" "1.22004E-5" "00000" "ABCA4_000224" "g.94577010T>C" "" "{PMID:Khan 2020:32307445}" "" "c.286A>G" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000900803" "0" "90" "1" "94486794" "94486794" "subst" "0" "00000" "ABCA4_000478" "g.94486794A>G" "" "{PMID:Khan 2020:32307445}" "" "c.5018+2T>C" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000900804" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "00000" "ABCA4_000996" "g.94476351C>T" "" "Sangermano 2018" "" "c.5714+5G>A" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000900805" "0" "90" "1" "94486794" "94486794" "subst" "0" "00000" "ABCA4_000478" "g.94486794A>G" "" "{PMID:Khan 2020:32307445}" "" "c.5018+2T>C" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000900806" "0" "90" "1" "94564548" "94564548" "subst" "0" "00000" "ABCA4_000197" "g.94564548C>A" "" "{PMID:Khan 2020:32307445}" "" "c.571-1G>T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000900807" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000900808" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Khan 2020:32307445}" "" "c.5882G>A" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000900809" "0" "90" "1" "94463488" "94463488" "subst" "5.2803E-5" "00000" "ABCA4_000802" "g.94463488G>A" "" "{PMID:Khan 2020:32307445}" "" "c.6658C>T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000900810" "0" "70" "1" "94496020" "94496020" "subst" "8.12143E-6" "00000" "ABCA4_000014" "g.94496020C>T" "" "{PMID:Khan 2020:32307445}" "" "c.4316G>A" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000900811" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Khan 2020:32307445}" "" "c.5882G>A" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000900812" "0" "70" "1" "94471055" "94471055" "subst" "0.00035346" "00000" "ABCA4_000029" "g.94471055C>T" "" "{PMID:Khan 2020:32307445}" "" "c.6089G>A" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000900813" "0" "90" "1" "94577046" "94577049" "dup" "0" "00000" "ABCA4_000227" "g.94577046_94577049dup" "" "{PMID:Khan 2020:32307445}" "" "c.247_250dup" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000900814" "0" "90" "1" "94486794" "94486794" "subst" "0" "00000" "ABCA4_000478" "g.94486794A>G" "" "{PMID:Khan 2020:32307445}" "" "c.5018+2T>C" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000900815" "0" "90" "1" "94564548" "94564548" "subst" "0" "00000" "ABCA4_000197" "g.94564548C>A" "" "{PMID:Khan 2020:32307445}" "" "c.571-1G>T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000900816" "0" "90" "1" "94486794" "94486794" "subst" "0" "00000" "ABCA4_000478" "g.94486794A>G" "" "{PMID:Khan 2020:32307445}" "" "c.5018+2T>C" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000900817" "0" "90" "1" "94564548" "94564548" "subst" "0" "00000" "ABCA4_000197" "g.94564548C>A" "" "{PMID:Khan 2020:32307445}" "" "c.571-1G>T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000900818" "0" "90" "1" "94508433" "94508433" "subst" "8.12209E-6" "00000" "ABCA4_000151" "g.94508433G>A" "" "{PMID:Khan 2020:32307445}" "" "c.3212C>T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000900819" "0" "90" "1" "94485137" "94485137" "subst" "0" "00000" "ABCA4_000464" "g.94485137C>T" "" "{PMID:Khan 2020:32307445}" "" "c.5196+1G>A" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000900820" "0" "70" "1" "94577010" "94577010" "subst" "1.22004E-5" "00000" "ABCA4_000224" "g.94577010T>C" "" "{PMID:Khan 2020:32307445}" "" "c.286A>G" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000900821" "0" "70" "1" "94463566" "94463601" "del" "0" "00000" "ABCA4_000805" "g.94463566_94463601del" "" "{PMID:Khan 2020:32307445}" "" "c.6545_6580del" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000900822" "0" "90" "1" "94577046" "94577049" "dup" "0" "00000" "ABCA4_000227" "g.94577046_94577049dup" "" "{PMID:Khan 2020:32307445}" "" "c.247_250dup" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000900823" "0" "70" "1" "94522386" "94522386" "subst" "0" "00000" "ABCA4_000746" "g.94522386C>T" "" "Fadaie 2019" "" "c.2161-8G>A" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000900824" "0" "70" "1" "94577010" "94577010" "subst" "1.22004E-5" "00000" "ABCA4_000224" "g.94577010T>C" "" "{PMID:Khan 2020:32307445}" "" "c.286A>G(;)5603A>T" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000900825" "0" "50" "1" "94496610" "94496610" "subst" "2.03128E-5" "00000" "ABCA4_000571" "g.94496610C>T" "" "{PMID:Khan 2020:32307445}" "" "c.4195G>A" "" "Unknown" "" "" "0" "" "" "" "" "VUS" ""
"0000900826" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.286A>G(;)5603A>T" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000900827" "0" "70" "1" "94480241" "94480241" "subst" "7.71705E-5" "00000" "ABCA4_000446" "g.94480241G>A" "" "{PMID:Khan 2020:32307445}" "" "c.5318C>T" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000900828" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Khan 2020:32307445}" "" "c.5882G>A" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000900829" "1" "90" "1" "94476951" "94476951" "subst" "0.000236097" "00000" "ABCA4_000025" "g.94476951A>G" "" "Sangermano,2016; 2018" "" "c.[5461-10T>C;5603A>T]" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000900830" "0" "70" "1" "94546118" "94546118" "subst" "8.13326E-6" "00000" "ABCA4_000082" "g.94546118A>C" "" "{PMID:Khan 2020:32307445}" "" "c.1015T>G" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000900831" "1" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.[5461-10T>C;5603A>T]" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000900832" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "00000" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Khan 2020:32307445}" "" "c.[1622T>C;3113C>T]" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000900833" "0" "70" "1" "94493000" "94493000" "subst" "0" "00000" "ABCA4_000015" "g.94493000C>T" "" "Albert 2018 (V4 in Braun et al. HMG, 2013)" "" "c.4539+2001G>A" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000900834" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "00000" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Khan 2020:32307445}" "" "c.[1622T>C;3113C>T]" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000900835" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "00000" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Khan 2020:32307445}" "" "c.6079C>T" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000900836" "0" "90" "1" "94568687" "94568687" "subst" "1.62641E-5" "00000" "ABCA4_000024" "g.94568687G>A" "" "{PMID:Khan 2020:32307445}" "" "c.454C>T(;)3794C>G" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000900837" "0" "90" "1" "94466624" "94466624" "subst" "0.0014345" "00000" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Khan 2020:32307445}" "" "c.6320G>A" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000900838" "0" "70" "1" "94502720" "94502720" "subst" "0" "00000" "ABCA4_002485" "g.94502720G>C" "" "{PMID:Khan 2020:32307445}" "" "c.454C>T(;)3794C>G" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000900839" "1" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "00000" "ABCA4_000997" "g.94495071C>T" "" "{PMID:Khan 2020:32307445}" "" "c.[4469G>A;5603A>T]" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000900840" "0" "70" "1" "94508341" "94508341" "subst" "1.21857E-5" "00000" "ABCA4_001298" "g.94508341C>A" "" "{PMID:Khan 2020:32307445}" "" "c.3304G>T" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000900841" "1" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.[4469G>A;5603A>T]" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000900842" "1" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "00000" "ABCA4_000997" "g.94495071C>T" "" "{PMID:Khan 2020:32307445}" "" "c.[4469G>A;5603A>T]" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000900843" "2" "90" "1" "94476951" "94476951" "subst" "0.000236097" "00000" "ABCA4_000025" "g.94476951A>G" "" "Sangermano,2016; 2018" "" "c.[5461-10T>C;5603A>T]" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000900844" "3" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.[4469G>A;5603A>T]" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000900845" "3" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.[5461-10T>C;5603A>T]" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000900846" "0" "70" "1" "94496509" "94496509" "subst" "0.00475243" "00000" "ABCA4_001024" "g.94496509C>T" "" "Sangermano 2019" "" "c.4253+43G>A" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000900847" "0" "70" "1" "94496548" "94496548" "subst" "2.43787E-5" "00000" "ABCA4_000088" "g.94496548G>A" "" "Sangermano 2018" "" "c.4253+4C>T" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000900848" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Khan 2020:32307445}" "" "c.5882G>A" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000900849" "1" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "00000" "ABCA4_000997" "g.94495071C>T" "" "{PMID:Khan 2020:32307445}" "" "c.[4469G>A;5603A>T]" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000900850" "0" "90" "1" "94546914" "94546914" "subst" "0" "00000" "ABCA4_002505" "g.94546914T>C" "" "Khan 2020" "" "c.859-640A>G" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000900851" "1" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.[4469G>A;5603A>T]" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000900852" "1" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "00000" "ABCA4_000997" "g.94495071C>T" "" "{PMID:Khan 2020:32307445}" "" "c.[4469G>A;5603A>T]" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000900853" "0" "70" "1" "94544249" "94544249" "subst" "8.12196E-6" "00000" "ABCA4_000323" "g.94544249A>G" "" "{PMID:Khan 2020:32307445}" "" "c.1253T>C" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000900854" "1" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.[4469G>A;5603A>T]" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000900855" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "00000" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Khan 2020:32307445}" "" "c.6079C>T" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000900856" "0" "90" "1" "94528164" "94528164" "subst" "2.03336E-5" "00000" "ABCA4_000267" "g.94528164G>A" "" "{PMID:Khan 2020:32307445}" "" "c.1906C>T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000900857" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "00000" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Khan 2020:32307445}" "" "c.6079C>T" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000900858" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "00000" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Khan 2020:32307445}" "" "c.[1622T>C;3113C>T]" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000900859" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "00000" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Khan 2020:32307445}" "" "c.[1622T>C;3113C>T]" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000900860" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Khan 2020:32307445}" "" "c.5882G>A" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000900861" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "00000" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Khan 2020:32307445}" "" "c.[1622T>C;3113C>T]" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000900862" "0" "50" "1" "94466592" "94466592" "del" "0" "00000" "ABCA4_000835" "g.94466592del" "" "{PMID:Khan 2020:32307445}" "" "c.6352del" "" "Unknown" "" "" "0" "" "" "" "" "VUS" ""
"0000900863" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "00000" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Khan 2020:32307445}" "" "c.[1622T>C;3113C>T]" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000900864" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "00000" "ABCA4_000045" "g.94564350C>A" "" "Sangermano 2018" "" "c.768G>T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000900865" "0" "70" "1" "94493000" "94493000" "subst" "0" "00000" "ABCA4_000015" "g.94493000C>T" "" "Albert 2018 (V4 in Braun et al. HMG, 2013)" "" "c.4539+2001G>A" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000900866" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000900867" "0" "90" "1" "94568687" "94568687" "subst" "1.62641E-5" "00000" "ABCA4_000024" "g.94568687G>A" "" "{PMID:Khan 2020:32307445}" "" "c.454C>T" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000900868" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000900869" "1" "70" "1" "94517254" "94517254" "subst" "0.00442654" "00000" "ABCA4_000034" "g.94517254C>G" "" "Maugeri 1999; Sangermano 2018" "" "c.[2588G>C;5603A>T]" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000900870" "0" "70" "1" "94544936" "94544936" "subst" "0" "00000" "ABCA4_002502" "g.94544936A>T" "" "{PMID:Khan 2020:32307445}" "" "c.1181T>A" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000900871" "1" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.[2588G>C;5603A>T]" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000900872" "0" "70" "1" "94506898" "94506898" "subst" "0" "00000" "ABCA4_001904" "g.94506898A>G" "" "{PMID:Khan 2020:32307445}" "" "c.3389T>C" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000900873" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "00000" "ABCA4_000996" "g.94476351C>T" "" "Sangermano 2018" "" "c.5714+5G>A" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000900874" "0" "50" "1" "94564462" "94564462" "subst" "4.06775E-5" "00000" "ABCA4_000380" "g.94564462C>G" "" "{PMID:Khan 2020:32307445}" "" "c.656G>C(;)[2588G>C;5603A>T]" "" "Unknown" "" "" "0" "" "" "" "" "VUS" ""
"0000900875" "1" "70" "1" "94517254" "94517254" "subst" "0.00442654" "00000" "ABCA4_000034" "g.94517254C>G" "" "Maugeri 1999; Sangermano 2018" "" "c.656G>C(;)[2588G>C;5603A>T]" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000900876" "0" "90" "1" "94546047" "94546047" "subst" "0" "00000" "ABCA4_000150" "g.94546047A>T" "" "{PMID:Khan 2020:32307445}" "" "c.1086T>A" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000900877" "1" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.656G>C(;)[2588G>C;5603A>T]" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000900878" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "00000" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Khan 2020:32307445}" "" "c.1804C>T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000900879" "0" "70" "1" "94543269" "94543269" "subst" "0.000179087" "00000" "ABCA4_000307" "g.94543269G>A" "" "{PMID:Khan 2020:32307445}" "" "c.1531C>T" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000900880" "0" "70" "1" "94493000" "94493000" "subst" "0" "00000" "ABCA4_000015" "g.94493000C>T" "" "Albert 2018 (V4 in Braun et al. HMG, 2013)" "" "c.4539+2001G>A" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000900881" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "00000" "ABCA4_000996" "g.94476351C>T" "" "Sangermano 2018" "" "c.5714+5G>A" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000900882" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "00000" "ABCA4_000034" "g.94517254C>G" "" "Maugeri 1999; Sangermano 2018" "" "c.2588G>C" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000900883" "1" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "00000" "ABCA4_000997" "g.94495071C>T" "" "{PMID:Khan 2020:32307445}" "" "c.[4469G>A;5603A>T]" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000900884" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "00000" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Khan 2020:32307445}" "" "c.3113C>T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000900885" "1" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.[4469G>A;5603A>T]" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000900886" "0" "70" "1" "94496583" "94496583" "subst" "2.03092E-5" "00000" "ABCA4_000190" "g.94496583A>G" "" "{PMID:Khan 2020:32307445}" "" "c.4222T>C(;)4918C>T" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000900887" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "00000" "ABCA4_000996" "g.94476351C>T" "" "Sangermano 2018" "" "c.5714+5G>A" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000900888" "0" "70" "1" "94486896" "94486896" "subst" "3.65562E-5" "00000" "ABCA4_000085" "g.94486896G>A" "" "{PMID:Khan 2020:32307445}" "" "c.4222T>C(;)4918C>T" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000900889" "1" "90" "1" "94476951" "94476951" "subst" "0.000236097" "00000" "ABCA4_000025" "g.94476951A>G" "" "Sangermano,2016; 2018" "" "c.[5461-10T>C;5603A>T]" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000900890" "0" "70" "1" "94493000" "94493000" "subst" "0" "00000" "ABCA4_000015" "g.94493000C>T" "" "Albert 2018 (V4 in Braun et al. HMG, 2013)" "" "c.4539+2001G>A" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000900891" "1" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.[5461-10T>C;5603A>T]" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000900892" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "00000" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Khan 2020:32307445}" "" "c.6079C>T" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000900893" "0" "70" "1" "94471055" "94471055" "subst" "0.00035346" "00000" "ABCA4_000029" "g.94471055C>T" "" "{PMID:Khan 2020:32307445}" "" "c.6089G>A" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000900894" "1" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "00000" "ABCA4_000997" "g.94495071C>T" "" "{PMID:Khan 2020:32307445}" "" "c.[4469G>A;5603A>T]" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000900895" "3" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000900896" "3" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.[4469G>A;5603A>T]" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000900897" "3" "90" "1" "94463488" "94463488" "subst" "5.2803E-5" "00000" "ABCA4_000802" "g.94463488G>A" "" "{PMID:Khan 2020:32307445}" "" "c.6658C>T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000900898" "3" "90" "1" "94463488" "94463488" "subst" "5.2803E-5" "00000" "ABCA4_000802" "g.94463488G>A" "" "{PMID:Khan 2020:32307445}" "" "c.6658C>T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000900899" "0" "90" "1" "94466624" "94466624" "subst" "0.0014345" "00000" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Khan 2020:32307445}" "" "c.6320G>A" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000900900" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "00000" "ABCA4_000045" "g.94564350C>A" "" "Sangermano 2018" "" "c.768G>T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000900901" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Khan 2020:32307445}" "" "c.5882G>A" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000900902" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "00000" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Khan 2020:32307445}" "" "c.6079C>T" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000900903" "0" "90" "1" "94526212" "94526212" "subst" "1.22012E-5" "00000" "ABCA4_000075" "g.94526212G>A" "" "{PMID:Khan 2020:32307445}" "" "c.2041C>T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000900904" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000900905" "0" "90" "1" "94495003" "94495003" "dup" "0" "00000" "ABCA4_000087" "g.94495003dup" "" "{PMID:Khan 2020:32307445}" "" "c.4537dup" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000900906" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "00000" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Khan 2020:32307445}" "" "c.1804C>T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
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"0000900978" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "00000" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Khan 2020:32307445}" "" "c.1804C>T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000900979" "0" "70" "1" "94493000" "94493000" "subst" "0" "00000" "ABCA4_000015" "g.94493000C>T" "" "Albert 2018 (V4 in Braun et al. HMG, 2013)" "" "c.4539+2001G>A" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000900980" "1" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "00000" "ABCA4_000997" "g.94495071C>T" "" "{PMID:Khan 2020:32307445}" "" "c.[4469G>A;5603A>T]" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000900981" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "00000" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Khan 2020:32307445}" "" "c.6079C>T" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000900982" "1" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.[4469G>A;5603A>T]" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000900983" "0" "90" "1" "94568687" "94568687" "subst" "1.62641E-5" "00000" "ABCA4_000024" "g.94568687G>A" "" "{PMID:Khan 2020:32307445}" "" "c.454C>T" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000900984" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000900985" "0" "90" "1" "94568687" "94568687" "subst" "1.62641E-5" "00000" "ABCA4_000024" "g.94568687G>A" "" "{PMID:Khan 2020:32307445}" "" "c.454C>T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000900986" "0" "70" "1" "94471037" "94471037" "subst" "0" "00000" "ABCA4_001062" "g.94471037T>C" "" "{PMID:Khan 2020:32307445}" "" "c.6107A>G" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000900987" "0" "70" "1" "94508341" "94508341" "subst" "1.21857E-5" "00000" "ABCA4_001298" "g.94508341C>A" "" "{PMID:Khan 2020:32307445}" "" "c.3304G>T" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000900988" "1" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "00000" "ABCA4_000997" "g.94495071C>T" "" "{PMID:Khan 2020:32307445}" "" "c.[4469G>A;5603A>T]" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000900989" "1" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.[4469G>A;5603A>T]" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000900990" "0" "70" "1" "94493000" "94493000" "subst" "0" "00000" "ABCA4_000015" "g.94493000C>T" "" "Albert 2018 (V4 in Braun et al. HMG, 2013)" "" "c.4539+2001G>A" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000900991" "0" "50" "1" "94467548" "94467548" "subst" "0.00295661" "00000" "ABCA4_000788" "g.94467548C>G" "" "Khan 2019" "" "c.6148G>C" "" "Unknown" "" "" "0" "" "" "" "" "VUS" ""
"0000900992" "0" "70" "1" "94549781" "94549781" "subst" "0" "00000" "ABCA4_001046" "g.94549781G>A" "" "Sangermano 2019" "" "c.769-784C>T" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000900993" "1" "90" "1" "94476951" "94476951" "subst" "0.000236097" "00000" "ABCA4_000025" "g.94476951A>G" "" "Sangermano,2016; 2018" "" "c.[5461-10T>C;5603A>T]" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000900994" "0" "70" "1" "94471037" "94471037" "subst" "0" "00000" "ABCA4_001062" "g.94471037T>C" "" "{PMID:Khan 2020:32307445}" "" "c.6107A>G" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000900995" "1" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.[5461-10T>C;5603A>T]" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000900996" "1" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "00000" "ABCA4_000997" "g.94495071C>T" "" "{PMID:Khan 2020:32307445}" "" "c.[4469G>A;5603A>T]" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000900997" "0" "70" "1" "94493000" "94493000" "subst" "0" "00000" "ABCA4_000015" "g.94493000C>T" "" "Albert 2018 (V4 in Braun et al. HMG, 2013)" "" "c.4539+2001G>A" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000900998" "1" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.[4469G>A;5603A>T]" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000900999" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901000" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "00000" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Khan 2020:32307445}" "" "c.1804C>T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901001" "0" "70" "1" "94493000" "94493000" "subst" "0" "00000" "ABCA4_000015" "g.94493000C>T" "" "Albert 2018 (V4 in Braun et al. HMG, 2013)" "" "c.4539+2001G>A" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901002" "0" "90" "1" "94544185" "94544185" "subst" "8.12137E-6" "00000" "ABCA4_000177" "g.94544185C>T" "" "{PMID:Khan 2020:32307445}" "" "c.1317G>A" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901003" "0" "70" "1" "94493000" "94493000" "subst" "0" "00000" "ABCA4_000015" "g.94493000C>T" "" "Albert 2018 (V4 in Braun et al. HMG, 2013)" "" "c.4539+2001G>A" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901004" "1" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "00000" "ABCA4_000997" "g.94495071C>T" "" "{PMID:Khan 2020:32307445}" "" "c.[4469G>A;5603A>T]" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901005" "0" "70" "1" "94544249" "94544249" "subst" "8.12196E-6" "00000" "ABCA4_000323" "g.94544249A>G" "" "{PMID:Khan 2020:32307445}" "" "c.1253T>C" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901006" "1" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.[4469G>A;5603A>T]" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901007" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "00000" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Khan 2020:32307445}" "" "c.6079C>T" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901008" "0" "70" "1" "94493000" "94493000" "subst" "0" "00000" "ABCA4_000015" "g.94493000C>T" "" "Albert 2018 (V4 in Braun et al. HMG, 2013)" "" "c.4539+2001G>A" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901009" "1" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "00000" "ABCA4_000997" "g.94495071C>T" "" "{PMID:Khan 2020:32307445}" "" "c.[4469G>A;5603A>T]" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901010" "0" "70" "1" "94544249" "94544249" "subst" "8.12196E-6" "00000" "ABCA4_000323" "g.94544249A>G" "" "{PMID:Khan 2020:32307445}" "" "c.1253T>C" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901011" "1" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.[4469G>A;5603A>T]" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901012" "1" "70" "1" "94517254" "94517254" "subst" "0.00442654" "00000" "ABCA4_000034" "g.94517254C>G" "" "Maugeri 1999; Sangermano 2018" "" "c.[2588G>C;5603A>T]" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901013" "0" "70" "1" "94543243" "94543243" "subst" "0" "00000" "ABCA4_002500" "g.94543243T>A" "" "Khan 2020" "" "c.1554+3A>T" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901014" "1" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.[2588G>C;5603A>T]" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901015" "0" "70" "1" "94508341" "94508341" "subst" "1.21857E-5" "00000" "ABCA4_001298" "g.94508341C>A" "" "{PMID:Khan 2020:32307445}" "" "c.3304G>T" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901016" "0" "70" "1" "94493000" "94493000" "subst" "0" "00000" "ABCA4_000015" "g.94493000C>T" "" "Albert 2018 (V4 in Braun et al. HMG, 2013)" "" "c.4539+2001G>A" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901017" "0" "90" "1" "94512499" "94512499" "subst" "0.000130029" "00000" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Khan 2020:32307445}" "" "c.2894A>G" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901018" "0" "90" "1" "94487195" "94487195" "subst" "0" "00000" "ABCA4_001454" "g.94487195C>A" "" "{PMID:Khan 2020:32307445}" "" "c.4848+1G>T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901019" "0" "90" "1" "94463488" "94463488" "subst" "5.2803E-5" "00000" "ABCA4_000802" "g.94463488G>A" "" "{PMID:Khan 2020:32307445}" "" "c.6658C>T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901020" "0" "70" "1" "94546283" "94546283" "subst" "8.18311E-5" "00000" "ABCA4_000356" "g.94546283A>G" "" "Sangermano 2018" "" "c.859-9T>C" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901021" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "00000" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Khan 2020:32307445}" "" "c.6079C>T" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901022" "0" "70" "1" "94471032" "94471032" "subst" "1.62553E-5" "00000" "ABCA4_000792" "g.94471032G>A" "" "{PMID:Khan 2020:32307445}" "" "c.6112C>T" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901023" "0" "90" "1" "94484082" "94484082" "subst" "0" "00000" "ABCA4_000028" "g.94484082T>C" "" "Khan, intron 36, unpublished; Braun et al. HMG, 2013 (V3)" "" "c.5196+1056A>G" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901024" "0" "70" "1" "94486896" "94486896" "subst" "3.65562E-5" "00000" "ABCA4_000085" "g.94486896G>A" "" "{PMID:Khan 2020:32307445}" "" "c.4918C>T" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901025" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901026" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "00000" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Khan 2020:32307445}" "" "c.6079C>T" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901027" "1" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "00000" "ABCA4_000997" "g.94495071C>T" "" "{PMID:Khan 2020:32307445}" "" "c.[4469G>A;5603A>T]" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901028" "0" "70" "1" "94471037" "94471037" "subst" "0" "00000" "ABCA4_001062" "g.94471037T>C" "" "{PMID:Khan 2020:32307445}" "" "c.6107A>G" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901029" "1" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.[4469G>A;5603A>T]" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901030" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "00000" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Khan 2020:32307445}" "" "c.1804C>T" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901031" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901032" "0" "70" "1" "94471055" "94471055" "subst" "0.00035346" "00000" "ABCA4_000029" "g.94471055C>T" "" "{PMID:Khan 2020:32307445}" "" "c.6089G>A" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901033" "0" "90" "1" "94546914" "94546914" "subst" "0" "00000" "ABCA4_002505" "g.94546914T>C" "" "Khan 2020" "" "c.859-640A>G" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901034" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "00000" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Khan 2020:32307445}" "" "c.6079C>T" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901035" "0" "70" "1" "94543441" "94543441" "subst" "0" "00000" "ABCA4_002501" "g.94543441A>C" "" "{PMID:Khan 2020:32307445}" "" "c.1359T>G(;)4539+2001G>A" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901036" "0" "70" "1" "94493000" "94493000" "subst" "0" "00000" "ABCA4_000015" "g.94493000C>T" "" "Albert 2018 (V4 in Braun et al. HMG, 2013)" "" "c.1359T>G(;)4539+2001G>A" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901037" "1" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "00000" "ABCA4_000997" "g.94495071C>T" "" "{PMID:Khan 2020:32307445}" "" "c.[4469G>A;5603A>T]" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901038" "3" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901039" "3" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.[4469G>A;5603A>T]" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901040" "1" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "00000" "ABCA4_000997" "g.94495071C>T" "" "{PMID:Khan 2020:32307445}" "" "c.[4469G>A;5603A>T]" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901041" "3" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901042" "3" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.[4469G>A;5603A>T]" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901043" "0" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "00000" "ABCA4_000997" "g.94495071C>T" "" "{PMID:Khan 2020:32307445}" "" "c.4469G>A" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901044" "0" "70" "1" "94493000" "94493000" "subst" "0" "00000" "ABCA4_000015" "g.94493000C>T" "" "Albert 2018 (V4 in Braun et al. HMG, 2013)" "" "c.4539+2001G>A" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901045" "0" "90" "1" "94490509" "94490509" "del" "0" "00000" "ABCA4_001457" "g.94490509del" "" "{PMID:Khan 2020:32307445}" "" "c.4634+1del" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901046" "0" "70" "1" "94463529" "94463529" "subst" "0" "00000" "ABCA4_002456" "g.94463529A>T" "" "{PMID:Khan 2020:32307445}" "" "c.6617T>A" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901047" "1" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "00000" "ABCA4_000997" "g.94495071C>T" "" "{PMID:Khan 2020:32307445}" "" "c.[4469G>A;5603A>T]" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901048" "3" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901049" "3" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.[4469G>A;5603A>T]" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901050" "0" "70" "1" "94480155" "94480155" "subst" "4.06091E-6" "00000" "ABCA4_002468" "g.94480155T>C" "" "{PMID:Khan 2020:32307445}" "" "c.5404A>G" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901051" "0" "90" "1" "94574256" "94574256" "subst" "2.8425E-5" "00000" "ABCA4_000040" "g.94574256G>A" "" "{PMID:Khan 2020:32307445}" "" "c.319C>T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901052" "0" "90" "1" "94490508" "94490508" "subst" "0" "00000" "ABCA4_002479" "g.94490508A>G" "" "{PMID:Khan 2020:32307445}" "" "c.4634+2T>C" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901053" "1" "90" "1" "94476951" "94476951" "subst" "0.000236097" "00000" "ABCA4_000025" "g.94476951A>G" "" "Sangermano,2016; 2018" "" "c.[5461-10T>C;5603A>T]" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901054" "0" "70" "1" "94493000" "94493000" "subst" "0" "00000" "ABCA4_000015" "g.94493000C>T" "" "Albert 2018 (V4 in Braun et al. HMG, 2013)" "" "c.4539+2001G>A" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901055" "1" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.[5461-10T>C;5603A>T]" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901056" "0" "90" "1" "94510227" "94510227" "dup" "0" "00000" "ABCA4_002398" "g.94510227dup" "" "{PMID:Khan 2020:32307445}" "" "c.2992dup" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901057" "1" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "00000" "ABCA4_000997" "g.94495071C>T" "" "{PMID:Khan 2020:32307445}" "" "c.[4469G>A;5603A>T]" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901058" "0" "70" "1" "94493000" "94493000" "subst" "0" "00000" "ABCA4_000015" "g.94493000C>T" "" "Albert 2018 (V4 in Braun et al. HMG, 2013)" "" "c.4539+2001G>A" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901059" "1" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.[4469G>A;5603A>T]" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901060" "0" "50" "1" "94485257" "94485257" "subst" "0.00017945" "00000" "ABCA4_000100" "g.94485257C>T" "" "{PMID:Khan 2020:32307445}" "" "c.5077G>A" "" "Unknown" "" "" "0" "" "" "" "" "VUS" ""
"0000901061" "0" "90" "1" "94480208" "94480209" "ins" "0" "00000" "ABCA4_002469" "g.94480208_94480209insTC" "" "{PMID:Khan 2020:32307445}" "" "c.5350_5351insGA" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901062" "0" "90" "1" "94510248" "94510248" "subst" "0.000544123" "00000" "ABCA4_000107" "g.94510248C>G" "" "{PMID:Khan 2020:32307445}" "" "c.2971G>C" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901063" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Khan 2020:32307445}" "" "c.5882G>A" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901064" "1" "90" "1" "94476951" "94476951" "subst" "0.000236097" "00000" "ABCA4_000025" "g.94476951A>G" "" "Sangermano,2016; 2018" "" "c.[5461-10T>C;5603A>T]" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901065" "1" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.[5461-10T>C;5603A>T]" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901066" "0" "70" "1" "94564500" "94564500" "subst" "0.00100414" "00000" "ABCA4_000069" "g.94564500G>C" "" "{PMID:Khan 2020:32307445}" "" "c.618C>G" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901067" "0" "70" "1" "94586549" "94586549" "subst" "0" "00000" "ABCA4_001028" "g.94586549C>T" "" "{PMID:Khan 2020:32307445}" "" "c.53G>A" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901068" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Khan 2020:32307445}" "" "c.5882G>A" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901069" "0" "70" "1" "94544209" "94544209" "subst" "0" "00000" "ABCA4_002132" "g.94544209C>G" "" "{PMID:Khan 2020:32307445}" "" "c.1293G>C" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901070" "0" "70" "1" "94528143" "94528143" "subst" "0.00124448" "00000" "ABCA4_000076" "g.94528143C>T" "" "{PMID:Khan 2020:32307445}" "" "c.1927G>A" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901071" "0" "70" "1" "94564500" "94564500" "subst" "0.00100414" "00000" "ABCA4_000069" "g.94564500G>C" "" "{PMID:Khan 2020:32307445}" "" "c.618C>G" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901072" "1" "90" "1" "94476951" "94476951" "subst" "0.000236097" "00000" "ABCA4_000025" "g.94476951A>G" "" "Sangermano,2016; 2018" "" "c.[5461-10T>C;5603A>T]" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901073" "3" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901074" "3" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.[5461-10T>C;5603A>T]" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901075" "1" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "00000" "ABCA4_000997" "g.94495071C>T" "" "{PMID:Khan 2020:32307445}" "" "c.[4469G>A;5603A>T]" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901076" "1" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.[4469G>A;5603A>T]" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901077" "0" "90" "1" "94466624" "94466624" "subst" "0.0014345" "00000" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Khan 2020:32307445}" "" "c.6320G>A" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901078" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "00000" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Khan 2020:32307445}" "" "c.1804C>T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901079" "0" "70" "1" "94493000" "94493000" "subst" "0" "00000" "ABCA4_000015" "g.94493000C>T" "" "Albert 2018 (V4 in Braun et al. HMG, 2013)" "" "c.4539+2001G>A" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901080" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "00000" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Khan 2020:32307445}" "" "c.1804C>T" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901081" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "00000" "ABCA4_000045" "g.94564350C>A" "" "Sangermano 2018" "" "c.768G>T" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901082" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901083" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "00000" "ABCA4_000034" "g.94517254C>G" "" "Maugeri 1999; Sangermano 2018" "" "c.2588G>C" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901084" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "00000" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Khan 2020:32307445}" "" "c.3322C>T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901085" "0" "90" "1" "94508330" "94508330" "del" "0" "00000" "ABCA4_002486" "g.94508330del" "" "{PMID:Khan 2020:32307445}" "" "c.3315del" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901086" "0" "90" "1" "94510248" "94510248" "subst" "0.000544123" "00000" "ABCA4_000107" "g.94510248C>G" "" "{PMID:Khan 2020:32307445}" "" "c.2971G>C" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901087" "0" "90" "1" "94508330" "94508330" "del" "0" "00000" "ABCA4_002486" "g.94508330del" "" "{PMID:Khan 2020:32307445}" "" "c.3315del" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901088" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Khan 2020:32307445}" "" "c.5882G>A" "unknown variant 2nd chromosome" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901089" "1" "90" "1" "94564484" "94564484" "subst" "0.000110199" "00000" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Khan 2020:32307445}" "" "c.634C>T" "" "Unknown" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901090" "2" "90" "1" "94487193" "94487193" "subst" "0" "00000" "ABCA4_002472" "g.94487193T>C" "" "Khan 2020" "" "c.4848+3A>G" "" "Unknown" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901091" "0" "50" "1" "94512602" "94512602" "subst" "0.000369717" "00000" "ABCA4_000052" "g.94512602C>T" "" "{PMID:Khan 2020:32307445}" "" "c.2791G>A" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "VUS" ""
"0000901092" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Khan 2020:32307445}" "" "c.5882G>A" "" "Unknown" "yes" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901093" "0" "70" "1" "94546780" "94546780" "subst" "0" "00000" "ABCA4_001271" "g.94546780C>G" "" "Sangermano 2019" "" "c.859-506G>C" "" "Unknown" "yes" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901094" "0" "50" "1" "94520733" "94520733" "subst" "4.06345E-6" "00000" "ABCA4_002022" "g.94520733G>T" "" "{PMID:Khan 2020:32307445}" "" "c.2521C>A" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "VUS" ""
"0000901095" "0" "50" "1" "94476428" "94476428" "subst" "7.71699E-5" "00000" "ABCA4_000422" "g.94476428G>A" "" "{PMID:Khan 2020:32307445}" "" "c.5642C>T" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "VUS" ""
"0000901096" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "00000" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Khan 2020:32307445}" "" "c.3386G>T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901097" "0" "90" "1" "94526829" "94526829" "subst" "0" "00000" "ABCA4_002493" "g.94526829T>C" "" "Khan 2020" "" "c.1938-514A>G" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901098" "0" "70" "1" "94474323" "94474323" "subst" "2.03034E-5" "00000" "ABCA4_000156" "g.94474323A>G" "" "{PMID:Khan 2020:32307445}" "" "c.5819T>C" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901099" "0" "90" "1" "94497588" "94497588" "subst" "4.153E-6" "00000" "ABCA4_000049" "g.94497588G>A" "" "{PMID:Khan 2020:32307445}" "" "c.3874C>T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901100" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "00000" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Khan 2020:32307445}" "" "c.3113C>T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901101" "1" "90" "1" "94520771" "94520771" "subst" "0" "00000" "ABCA4_002024" "g.94520771G>A" "" "{PMID:Khan 2020:32307445}" "" "c.[2483C>T;2481del]" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901102" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901103" "1" "90" "1" "94520773" "94520773" "del" "0" "00000" "ABCA4_002025" "g.94520773del" "" "{PMID:Khan 2020:32307445}" "" "c.[2483C>T;2481del]" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901104" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "00000" "ABCA4_000996" "g.94476351C>T" "" "Sangermano 2018" "" "c.5714+5G>A" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901105" "0" "90" "1" "94492937" "94492937" "subst" "0" "00000" "ABCA4_000529" "g.94492937G>A" "" "Bauwens 2019" "" "c.4539+2064C>T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901106" "0" "90" "1" "94526296" "94526296" "subst" "1.64555E-5" "00000" "ABCA4_000768" "g.94526296G>A" "" "{PMID:Khan 2020:32307445}" "" "c.1957C>T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901107" "0" "70" "1" "94508993" "94508993" "subst" "0" "00000" "ABCA4_001954" "g.94508993A>T" "" "Khan 2020" "" "c.3089T>A" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901108" "0" "90" "1" "94564484" "94564484" "subst" "0.000110199" "00000" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Khan 2020:32307445}" "" "c.634C>T" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901109" "0" "90" "1" "94577046" "94577049" "dup" "0" "00000" "ABCA4_000227" "g.94577046_94577049dup" "" "{PMID:Khan 2020:32307445}" "" "c.247_250dup" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901110" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Khan 2020:32307445}" "" "c.5882G>A" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901111" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "00000" "ABCA4_000996" "g.94476351C>T" "" "Sangermano 2018" "" "c.5714+5G>A" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901112" "0" "90" "1" "94526265" "94526265" "subst" "0" "00000" "ABCA4_000143" "g.94526265C>T" "" "{PMID:Khan 2020:32307445}" "" "c.1988G>A" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901113" "0" "50" "1" "94506910" "94506910" "subst" "4.06098E-6" "00000" "ABCA4_000105" "g.94506910A>G" "" "{PMID:Khan 2020:32307445}" "" "c.3377T>C" "" "Unknown" "" "" "0" "" "" "" "" "VUS" ""
"0000901114" "1" "70" "1" "94517254" "94517254" "subst" "0.00442654" "00000" "ABCA4_000034" "g.94517254C>G" "" "Maugeri 1999; Sangermano 2018" "" "c.[2588G>C;5603A>T](;)656G>C" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901115" "1" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.[2588G>C;5603A>T](;)656G>C" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901116" "0" "90" "1" "94484082" "94484082" "subst" "0" "00000" "ABCA4_000028" "g.94484082T>C" "" "Khan, intron 36, unpublished; Braun et al. HMG, 2013 (V3)" "" "c.5196+1056A>G" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901117" "0" "50" "1" "94564462" "94564462" "subst" "4.06775E-5" "00000" "ABCA4_000380" "g.94564462C>G" "" "{PMID:Khan 2020:32307445}" "" "c.[2588G>C;5603A>T](;)656G>C" "" "Unknown" "" "" "0" "" "" "" "" "VUS" ""
"0000901118" "0" "70" "1" "94502296" "94502296" "subst" "4.06072E-6" "00000" "ABCA4_002484" "g.94502296C>T" "" "Khan 2020" "" "c.3862G>A" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901119" "0" "90" "1" "94484082" "94484082" "subst" "0" "00000" "ABCA4_000028" "g.94484082T>C" "" "Khan, intron 36, unpublished; Braun et al. HMG, 2013 (V3)" "" "c.5196+1056A>G" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901120" "0" "90" "1" "94484082" "94484082" "subst" "0" "00000" "ABCA4_000028" "g.94484082T>C" "" "Khan, intron 36, unpublished; Braun et al. HMG, 2013 (V3)" "" "c.5196+1056A>G" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901121" "0" "70" "1" "94476875" "94476875" "subst" "1.62489E-5" "00000" "ABCA4_001280" "g.94476875G>A" "" "{PMID:Khan 2020:32307445}" "" "c.5527C>T" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901122" "0" "90" "1" "94484082" "94484082" "subst" "0" "00000" "ABCA4_000028" "g.94484082T>C" "" "Khan, intron 36, unpublished; Braun et al. HMG, 2013 (V3)" "" "c.5196+1056A>G" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901123" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Khan 2020:32307445}" "" "c.5882G>A" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901124" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "00000" "ABCA4_000045" "g.94564350C>A" "" "Sangermano 2018" "" "c.768G>T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901125" "0" "90" "1" "94526265" "94526265" "subst" "0" "00000" "ABCA4_000143" "g.94526265C>T" "" "{PMID:Khan 2020:32307445}" "" "c.1988G>A" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901126" "0" "90" "1" "94526296" "94526296" "subst" "1.64555E-5" "00000" "ABCA4_000768" "g.94526296G>A" "" "{PMID:Khan 2020:32307445}" "" "c.1957C>T" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901127" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901128" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901129" "1" "90" "1" "94476951" "94476951" "subst" "0.000236097" "00000" "ABCA4_000025" "g.94476951A>G" "" "Sangermano,2016; 2018" "" "c.[5461-10T>C;5603A>T]" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901130" "0" "90" "1" "94471056" "94471056" "subst" "2.84398E-5" "00000" "ABCA4_000050" "g.94471056G>A" "" "{PMID:Khan 2020:32307445}" "" "c.6088C>T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901131" "1" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.[5461-10T>C;5603A>T]" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901132" "0" "90" "1" "94508353" "94508353" "subst" "2.8431E-5" "00000" "ABCA4_000141" "g.94508353G>A" "" "{PMID:Khan 2020:32307445}" "" "c.3292C>T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901133" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "00000" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Khan 2020:32307445}" "" "c.4139C>T" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901134" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "00000" "ABCA4_000045" "g.94564350C>A" "" "Sangermano 2018" "" "c.768G>T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901135" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Khan 2020:32307445}" "" "c.5882G>A" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901136" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "00000" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Khan 2020:32307445}" "" "c.4139C>T" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901137" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Khan 2020:32307445}" "" "c.5882G>A" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901138" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "00000" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Khan 2020:32307445}" "" "c.1622T>C" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901139" "0" "90" "1" "94484082" "94484082" "subst" "0" "00000" "ABCA4_000028" "g.94484082T>C" "" "Khan, intron 36, unpublished; Braun et al. HMG, 2013 (V3)" "" "c.5196+1056A>G" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901140" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "00000" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Khan 2020:32307445}" "" "c.[1622T>C;3113C>T]" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901141" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901142" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "00000" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Khan 2020:32307445}" "" "c.[1622T>C;3113C>T]" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901143" "0" "90" "1" "94481294" "94481294" "subst" "0" "00000" "ABCA4_000110" "g.94481294C>T" "" "{PMID:Khan 2020:32307445}" "" "c.5312+1G>A" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901144" "0" "70" "1" "94466425" "94466425" "subst" "0" "00000" "ABCA4_000819" "g.94466425C>A" "" "{PMID:Khan 2020:32307445}" "" "c.6446G>T" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901145" "0" "90" "1" "94520682" "94520689" "del" "0" "00000" "ABCA4_000708" "g.94520682_94520689del" "" "{PMID:Khan 2020:32307445}" "" "c.2565_2572del" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901146" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Khan 2020:32307445}" "" "c.5882G>A" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901147" "0" "90" "1" "94484082" "94484082" "subst" "0" "00000" "ABCA4_000028" "g.94484082T>C" "" "Khan, intron 36, unpublished; Braun et al. HMG, 2013 (V3)" "" "c.5196+1056A>G" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901148" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "00000" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Khan 2020:32307445}" "" "c.[1622T>C;3113C>T]" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901149" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Khan 2020:32307445}" "" "c.5882G>A" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901150" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "00000" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Khan 2020:32307445}" "" "c.[1622T>C;3113C>T]" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901151" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "00000" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Khan 2020:32307445}" "" "c.4139C>T" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901152" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Khan 2020:32307445}" "" "c.5882G>A" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901153" "0" "90" "1" "94520682" "94520689" "del" "0" "00000" "ABCA4_000708" "g.94520682_94520689del" "" "{PMID:Khan 2020:32307445}" "" "c.2565_2572del" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901154" "0" "70" "1" "94502701" "94502701" "subst" "0" "00000" "ABCA4_000594" "g.94502701C>G" "" "Sangermano 2018" "" "c.3813G>C" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901155" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Khan 2020:32307445}" "" "c.5882G>A" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901156" "0" "90" "1" "94495003" "94495003" "dup" "0" "00000" "ABCA4_000087" "g.94495003dup" "" "{PMID:Khan 2020:32307445}" "" "c.4537dup" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901157" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Khan 2020:32307445}" "" "c.5882G>A" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901158" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "00000" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Khan 2020:32307445}" "" "c.4139C>T" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901159" "3" "70" "1" "94466739" "94466739" "subst" "0" "00000" "ABCA4_002460" "g.94466739C>A" "" "Khan 2020" "" "c.6283-78G>T" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901160" "3" "70" "1" "94466739" "94466739" "subst" "0" "00000" "ABCA4_002460" "g.94466739C>A" "" "Khan 2020" "" "c.6283-78G>T" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901161" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901162" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Khan 2020:32307445}" "" "c.5882G>A" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901163" "0" "90" "1" "94471056" "94471056" "subst" "2.84398E-5" "00000" "ABCA4_000050" "g.94471056G>A" "" "{PMID:Khan 2020:32307445}" "" "c.6088C>T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901164" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Khan 2020:32307445}" "" "c.5882G>A" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901165" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "00000" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Khan 2020:32307445}" "" "c.4139C>T" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901166" "3" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Khan 2020:32307445}" "" "c.5882G>A" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901167" "3" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Khan 2020:32307445}" "" "c.5882G>A" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901168" "3" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Khan 2020:32307445}" "" "c.5882G>A" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901169" "3" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Khan 2020:32307445}" "" "c.5882G>A" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901170" "3" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Khan 2020:32307445}" "" "c.5882G>A" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901171" "0" "70" "1" "94486896" "94486896" "subst" "3.65562E-5" "00000" "ABCA4_000085" "g.94486896G>A" "" "{PMID:Khan 2020:32307445}" "" "c.4918C>T(;)5882G>A" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901172" "3" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Khan 2020:32307445}" "" "c.4918C>T(;)5882G>A" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901173" "3" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Khan 2020:32307445}" "" "c.5882G>A" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901174" "3" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Khan 2020:32307445}" "" "c.5882G>A(;)6216T>G" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901175" "0" "70" "1" "94467480" "94467480" "subst" "0" "00000" "ABCA4_002461" "g.94467480A>C" "" "{PMID:Khan 2020:32307445}" "" "c.5882G>A(;)6216T>G" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901176" "3" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Khan 2020:32307445}" "" "c.5882G>A" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901177" "0" "70" "1" "94486896" "94486896" "subst" "3.65562E-5" "00000" "ABCA4_000085" "g.94486896G>A" "" "{PMID:Khan 2020:32307445}" "" "c.4918C>T(;)5882G>A" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901178" "3" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Khan 2020:32307445}" "" "c.4918C>T(;)5882G>A" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901179" "3" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Khan 2020:32307445}" "" "c.5882G>A" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901180" "3" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Khan 2020:32307445}" "" "c.4918C>T(;)5882G>A" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901181" "0" "70" "1" "94486896" "94486896" "subst" "3.65562E-5" "00000" "ABCA4_000085" "g.94486896G>A" "" "{PMID:Khan 2020:32307445}" "" "c.4918C>T(;)5882G>A" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901182" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Khan 2020:32307445}" "" "c.5882G>A" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901183" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Khan 2020:32307445}" "" "c.5882G>A" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901184" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Khan 2020:32307445}" "" "c.5882G>A" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901185" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Khan 2020:32307445}" "" "c.5882G>A" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901186" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Khan 2020:32307445}" "" "c.5882G>A" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901187" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901188" "0" "90" "1" "94512505" "94512505" "del" "4.06392E-6" "00000" "ABCA4_000155" "g.94512505del" "" "{PMID:Khan 2020:32307445}" "" "c.2888del" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901189" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901190" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "00000" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Khan 2020:32307445}" "" "c.3386G>T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901191" "0" "90" "1" "94495000" "94495000" "subst" "0" "00000" "ABCA4_002481" "g.94495000C>G" "" "{PMID:Khan 2020:32307445}" "" "c.4539+1G>C" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901192" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Khan 2020:32307445}" "" "c.5882G>A" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901193" "0" "90" "1" "94487436" "94487439" "del" "0" "00000" "ABCA4_002475" "g.94487436_94487439del" "" "{PMID:Khan 2020:32307445}" "" "c.4736_4739del" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901194" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Khan 2020:32307445}" "" "c.5882G>A" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901195" "0" "90" "1" "94564009" "94564419" "del" "0" "00000" "ABCA4_002170" "g.94564009_94564419del" "" "{PMID:Khan 2020:32307445}" "" "c.699_768+341del" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901196" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Khan 2020:32307445}" "" "c.5882G>A" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901197" "0" "90" "1" "94564009" "94564419" "del" "0" "00000" "ABCA4_002170" "g.94564009_94564419del" "" "{PMID:Khan 2020:32307445}" "" "c.699_768+341del" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901198" "0" "90" "1" "94512499" "94512499" "subst" "0.000130029" "00000" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Khan 2020:32307445}" "" "c.2894A>G" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901199" "0" "90" "1" "94487436" "94487439" "del" "0" "00000" "ABCA4_002475" "g.94487436_94487439del" "" "{PMID:Khan 2020:32307445}" "" "c.4736_4739del" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901200" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "00000" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Khan 2020:32307445}" "" "c.3386G>T" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901201" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Khan 2020:32307445}" "" "c.5882G>A" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901202" "0" "70" "1" "94549781" "94549781" "subst" "0" "00000" "ABCA4_001046" "g.94549781G>A" "" "Sangermano 2019" "" "c.769-784C>T(;)1938-619A>G" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901203" "0" "90" "1" "94526934" "94526934" "subst" "0" "00000" "ABCA4_000771" "g.94526934T>C" "" "Fadaie 2019" "" "c.769-784C>T(;)1938-619A>G" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901204" "0" "70" "1" "94473786" "94473786" "subst" "0" "00000" "ABCA4_002465" "g.94473786C>T" "" "Khan 2020" "" "c.5898+5G>A" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901205" "0" "90" "1" "94564009" "94564419" "del" "0" "00000" "ABCA4_002170" "g.94564009_94564419del" "" "{PMID:Khan 2020:32307445}" "" "c.699_768+341del" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901206" "0" "50" "1" "94568675" "94568675" "subst" "0.00146249" "00000" "ABCA4_000210" "g.94568675T>C" "" "{PMID:Khan 2020:32307445}" "" "c.466A>G" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "VUS" ""
"0000901207" "0" "70" "1" "94577102" "94577102" "subst" "4.06161E-6" "00000" "ABCA4_000033" "g.94577102C>T" "" "{PMID:Khan 2020:32307445}" "" "c.194G>A" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901208" "0" "90" "1" "0" "0" "delins" "0" "00000" "ABCA4_002492" "g.?" "" "{PMID:Khan 2020:32307445}" "" "c.1555-3491_1938-83delins1734_1761-107inv" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901209" "0" "50" "1" "94496557" "94496557" "subst" "8.12381E-6" "00000" "ABCA4_000562" "g.94496557G>T" "" "{PMID:Khan 2020:32307445}" "" "c.4248C>A" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "VUS" ""
"0000901210" "1" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "00000" "ABCA4_000997" "g.94495071C>T" "" "{PMID:Khan 2020:32307445}" "" "c.[4469G>A;5603A>T]" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901211" "0" "70" "1" "94492973" "94492973" "subst" "0" "00000" "ABCA4_000030" "g.94492973G>A" "" "Albert 2018 (V5 in Braun et al. HMG, 2013)" "" "c.4539+2028C>T" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901212" "1" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.[4469G>A;5603A>T]" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901213" "0" "90" "1" "94495003" "94495003" "dup" "0" "00000" "ABCA4_000087" "g.94495003dup" "" "{PMID:Khan 2020:32307445}" "" "c.4537dup" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901214" "1" "70" "1" "94549781" "94549781" "subst" "0" "00000" "ABCA4_001046" "g.94549781G>A" "" "Sangermano 2019" "" "c.[769-784C>T;5603A>T]" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901215" "1" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.[769-784C>T;5603A>T]" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901216" "0" "70" "1" "94546283" "94546283" "subst" "8.18311E-5" "00000" "ABCA4_000356" "g.94546283A>G" "" "Sangermano 2018" "" "c.859-9T>C" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901217" "0" "90" "1" "0" "0" "" "0" "00000" "NPHS2_000000" "g.?" "" "{PMID:Khan 2020:32307445}" "" "c.1555-2428_2161-101delins2160+7_2160+230invATGAATGins" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901218" "0" "70" "1" "94543269" "94543269" "subst" "0.000179087" "00000" "ABCA4_000307" "g.94543269G>A" "" "{PMID:Khan 2020:32307445}" "" "c.1531C>T" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901219" "1" "70" "1" "94517254" "94517254" "subst" "0.00442654" "00000" "ABCA4_000034" "g.94517254C>G" "" "Maugeri 1999; Sangermano 2018" "" "c.[2588G>C;5603A>T]" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901220" "0" "70" "1" "94471062" "94471062" "subst" "0" "00000" "ABCA4_002464" "g.94471062T>C" "" "{PMID:Khan 2020:32307445}" "" "c.6082A>G" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901221" "1" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.[2588G>C;5603A>T]" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901222" "1" "70" "1" "94517254" "94517254" "subst" "0.00442654" "00000" "ABCA4_000034" "g.94517254C>G" "" "Maugeri 1999; Sangermano 2018" "" "c.[2588G>C;5603A>T]" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901223" "0" "70" "1" "94471062" "94471062" "subst" "0" "00000" "ABCA4_002464" "g.94471062T>C" "" "{PMID:Khan 2020:32307445}" "" "c.6082A>G" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901224" "1" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.[2588G>C;5603A>T]" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901225" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "00000" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Khan 2020:32307445}" "" "c.1804C>T" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901226" "0" "90" "1" "94526212" "94526212" "subst" "1.22012E-5" "00000" "ABCA4_000075" "g.94526212G>A" "" "{PMID:Khan 2020:32307445}" "" "c.2041C>T" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901227" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901228" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "00000" "ABCA4_000034" "g.94517254C>G" "" "Maugeri 1999; Sangermano 2018" "" "c.2588G>C" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901229" "1" "70" "1" "94517254" "94517254" "subst" "0.00442654" "00000" "ABCA4_000034" "g.94517254C>G" "" "Maugeri 1999; Sangermano 2018" "" "c.[2588G>C;5603A>T]" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901230" "1" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.[2588G>C;5603A>T]" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901231" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "00000" "ABCA4_000034" "g.94517254C>G" "" "Maugeri 1999; Sangermano 2018" "" "c.2588G>C" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901232" "0" "90" "1" "94528784" "94528784" "subst" "0" "00000" "ABCA4_001475" "g.94528784C>T" "" "{PMID:Khan 2020:32307445}" "" "c.1644G>A" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901233" "0" "90" "1" "94508386" "94508386" "subst" "1.62443E-5" "00000" "ABCA4_000642" "g.94508386C>T" "" "{PMID:Khan 2020:32307445}" "" "c.3259G>A" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901234" "0" "70" "1" "94577117" "94577117" "subst" "0" "00000" "ABCA4_002511" "g.94577117G>C" "" "{PMID:Khan 2020:32307445}" "" "c.179C>G" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901235" "0" "90" "1" "94508386" "94508386" "subst" "1.62443E-5" "00000" "ABCA4_000642" "g.94508386C>T" "" "{PMID:Khan 2020:32307445}" "" "c.3259G>A" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901236" "0" "70" "1" "94577117" "94577117" "subst" "0" "00000" "ABCA4_002511" "g.94577117G>C" "" "{PMID:Khan 2020:32307445}" "" "c.179C>G" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901237" "0" "70" "1" "94480241" "94480241" "subst" "7.71705E-5" "00000" "ABCA4_000446" "g.94480241G>A" "" "{PMID:Khan 2020:32307445}" "" "c.5318C>T" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901238" "0" "70" "1" "94526295" "94526295" "subst" "3.69731E-5" "00000" "ABCA4_000114" "g.94526295C>T" "" "{PMID:Khan 2020:32307445}" "" "c.1958G>A" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901239" "0" "90" "1" "94474432" "94474432" "subst" "0" "00000" "ABCA4_001252" "g.94474432A>C" "" "Fadaie 2019" "" "c.5715-5T>G" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901240" "0" "90" "1" "94487503" "94496279" "delins" "0" "00000" "ABCA4_002477" "g.94487503_94496279delinsAAAAAGC" "" "{PMID:Khan 2020:32307445}" "" "c.4254-197_4672delinsGCTTTTT" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901241" "0" "90" "1" "94508386" "94508386" "subst" "1.62443E-5" "00000" "ABCA4_000642" "g.94508386C>T" "" "{PMID:Khan 2020:32307445}" "" "c.3259G>A" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901242" "0" "50" "1" "94496580" "94496580" "subst" "0" "00000" "ABCA4_000564" "g.94496580T>C" "" "{PMID:Khan 2020:32307445}" "" "c.4225A>G" "" "Unknown" "" "" "0" "" "" "" "" "VUS" ""
"0000901243" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Khan 2020:32307445}" "" "c.5882G>A" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901244" "0" "90" "1" "94474432" "94474432" "subst" "0" "00000" "ABCA4_001252" "g.94474432A>C" "" "Fadaie 2019" "" "c.5715-5T>G" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901245" "0" "50" "1" "94526289" "94526289" "subst" "0.000417202" "00000" "ABCA4_000767" "g.94526289A>C" "" "{PMID:Khan 2020:32307445}" "" "c.1964T>G" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "VUS" ""
"0000901246" "0" "50" "1" "94514477" "94514477" "subst" "0.00118992" "00000" "ABCA4_000700" "g.94514477G>A" "" "{PMID:Khan 2020:32307445}" "" "c.2690C>T" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "VUS" ""
"0000901247" "0" "70" "1" "94476430" "94476430" "subst" "0.000694501" "00000" "ABCA4_002466" "g.94476430A>T" "" "{PMID:Khan 2020:32307445}" "" "c.5640T>A" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901248" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "00000" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Khan 2020:32307445}" "" "c.3113C>T" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901249" "0" "70" "1" "94577135" "94577135" "subst" "2.43718E-5" "00000" "ABCA4_000240" "g.94577135C>T" "" "Fadaie 2019" "" "c.161G>A" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901250" "0" "70" "1" "94490567" "94490567" "subst" "5.68528E-5" "00000" "ABCA4_000026" "g.94490567G>A" "" "{PMID:Khan 2020:32307445}" "" "c.4577C>T" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901251" "0" "90" "1" "94520690" "94520690" "subst" "2.03102E-5" "00000" "ABCA4_000149" "g.94520690C>T" "" "{PMID:Khan 2020:32307445}" "" "c.2564G>A" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901252" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901253" "1" "90" "1" "94568687" "94568687" "subst" "1.62641E-5" "00000" "ABCA4_000024" "g.94568687G>A" "" "{PMID:Khan 2020:32307445}" "" "c.[454C>T;6148G>C]" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901254" "1" "50" "1" "94467548" "94467548" "subst" "0.00295661" "00000" "ABCA4_000788" "g.94467548C>G" "" "Khan 2019" "" "c.[454C>T;6148G>C]" "" "Unknown" "?" "" "0" "" "" "" "" "VUS" ""
"0000901255" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Khan 2020:32307445}" "" "c.5882G>A" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901256" "0" "90" "1" "94495003" "94495003" "dup" "0" "00000" "ABCA4_000087" "g.94495003dup" "" "{PMID:Khan 2020:32307445}" "" "c.4537dup" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901257" "0" "90" "1" "94481294" "94481294" "subst" "0" "00000" "ABCA4_000110" "g.94481294C>T" "" "{PMID:Khan 2020:32307445}" "" "c.5312+1G>A" "c.(6729+1_6730-1)_(*1_?)del" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901258" "0" "70" "1" "0" "0" "" "0" "00000" "NPHS2_000000" "g.?" "" "{PMID:Khan 2020:32307445}" "" "c.(6729+1_6730-1)_(*1_?)del" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901259" "0" "90" "1" "94496571" "94496571" "subst" "4.06174E-6" "00000" "ABCA4_000111" "g.94496571G>A" "" "{PMID:Khan 2020:32307445}" "" "c.4234C>T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901260" "0" "50" "1" "94463425" "94463425" "subst" "0.000109787" "00000" "ABCA4_000853" "g.94463425G>C" "" "{PMID:Khan 2020:32307445}" "" "c.6721C>G(;)5603A>T" "" "Unknown" "" "" "0" "" "" "" "" "VUS" ""
"0000901261" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.6721C>G(;)5603A>T" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901262" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "00000" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Khan 2020:32307445}" "" "c.[1622T>C;3113C>T]" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901263" "0" "70" "1" "94476830" "94476830" "subst" "8.12671E-6" "00000" "ABCA4_001680" "g.94476830A>T" "" "{PMID:Khan 2020:32307445}" "" "c.5572T>A(;)5603A>T" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901264" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "00000" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Khan 2020:32307445}" "" "c.[1622T>C;3113C>T]" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901265" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5572T>A(;)5603A>T" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901266" "0" "90" "1" "94564484" "94564484" "subst" "0.000110199" "00000" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Khan 2020:32307445}" "" "c.634C>T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901267" "0" "70" "1" "94528226" "94528226" "subst" "0" "00000" "ABCA4_002077" "g.94528226A>G" "" "{PMID:Khan 2020:32307445}" "" "c.1844T>C" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901268" "0" "90" "1" "94496571" "94496571" "subst" "4.06174E-6" "00000" "ABCA4_000111" "g.94496571G>A" "" "{PMID:Khan 2020:32307445}" "" "c.4234C>T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901269" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Khan 2020:32307445}" "" "c.5882G>A" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901270" "0" "90" "1" "94520690" "94520690" "subst" "2.03102E-5" "00000" "ABCA4_000149" "g.94520690C>T" "" "{PMID:Khan 2020:32307445}" "" "c.2564G>A" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901271" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Khan 2020:32307445}" "" "c.5882G>A" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901272" "0" "70" "1" "94528806" "94528806" "subst" "0.000150298" "00000" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Khan 2020:32307445}" "" "c.1622T>C" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901273" "0" "70" "1" "94496509" "94496509" "subst" "0.00475243" "00000" "ABCA4_001024" "g.94496509C>T" "" "Sangermano 2019" "" "c.4253+43G>A" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901274" "0" "90" "1" "94568687" "94568687" "subst" "1.62641E-5" "00000" "ABCA4_000024" "g.94568687G>A" "" "{PMID:Khan 2020:32307445}" "" "c.454C>T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901275" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Khan 2020:32307445}" "" "c.5882G>A" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901276" "0" "90" "1" "94544200" "94544200" "del" "4.06072E-6" "00000" "ABCA4_000319" "g.94544200del" "" "{PMID:Khan 2020:32307445}" "" "c.1302del" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901277" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Khan 2020:32307445}" "" "c.5882G>A" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901278" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Khan 2020:32307445}" "" "c.5882G>A" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901279" "0" "90" "1" "94461663" "94461663" "subst" "0" "00000" "ABCA4_001558" "g.94461663A>T" "" "{PMID:Khan 2020:32307445}" "" "c.6816+2T>A" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901280" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "00000" "ABCA4_000996" "g.94476351C>T" "" "Sangermano 2018" "" "c.5714+5G>A" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901281" "0" "90" "1" "94467507" "94467507" "subst" "0" "00000" "ABCA4_001606" "g.94467507G>T" "" "{PMID:Khan 2020:32307445}" "" "c.6189C>A" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901282" "0" "70" "1" "94480179" "94480179" "subst" "0" "00000" "ABCA4_000991" "g.94480179C>G" "" "{PMID:Khan 2020:32307445}" "" "c.5380G>C" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901283" "0" "90" "1" "94471056" "94471056" "subst" "2.84398E-5" "00000" "ABCA4_000050" "g.94471056G>A" "" "{PMID:Khan 2020:32307445}" "" "c.6088C>T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901284" "3" "70" "1" "94495078" "94495078" "subst" "8.37044E-6" "00000" "ABCA4_000042" "g.94495078A>G" "" "{PMID:Khan 2020:32307445}" "" "c.4462T>C" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901285" "3" "70" "1" "94495078" "94495078" "subst" "8.37044E-6" "00000" "ABCA4_000042" "g.94495078A>G" "" "{PMID:Khan 2020:32307445}" "" "c.4462T>C" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901286" "0" "70" "1" "94486835" "94486835" "subst" "0" "00000" "ABCA4_001018" "g.94486835G>A" "" "{PMID:Khan 2020:32307445}" "" "c.4979C>T" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901287" "0" "90" "1" "94528751" "94528751" "subst" "0" "00000" "ABCA4_002499" "g.94528751C>T" "" "{PMID:Khan 2020:32307445}" "" "c.1677G>A" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901288" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Khan 2020:32307445}" "" "c.5882G>A" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901289" "3" "70" "1" "94485221" "94485221" "subst" "0" "00000" "ABCA4_000471" "g.94485221G>A" "" "{PMID:Khan 2020:32307445}" "" "c.5113C>T" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901290" "3" "70" "1" "94485221" "94485221" "subst" "0" "00000" "ABCA4_000471" "g.94485221G>A" "" "{PMID:Khan 2020:32307445}" "" "c.5113C>T" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901291" "0" "90" "1" "94548932" "94548932" "del" "4.06587E-6" "00000" "ABCA4_001022" "g.94548932del" "" "{PMID:Khan 2020:32307445}" "" "c.834del" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901292" "3" "70" "1" "94480179" "94480179" "subst" "0" "00000" "ABCA4_000991" "g.94480179C>G" "" "{PMID:Khan 2020:32307445}" "" "c.5380G>C" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901293" "3" "70" "1" "94480179" "94480179" "subst" "0" "00000" "ABCA4_000991" "g.94480179C>G" "" "{PMID:Khan 2020:32307445}" "" "c.5380G>C" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901294" "3" "70" "1" "94480179" "94480179" "subst" "0" "00000" "ABCA4_000991" "g.94480179C>G" "" "{PMID:Khan 2020:32307445}" "" "c.5380G>C" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901295" "3" "70" "1" "94480179" "94480179" "subst" "0" "00000" "ABCA4_000991" "g.94480179C>G" "" "{PMID:Khan 2020:32307445}" "" "c.5380G>C" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901296" "0" "70" "1" "94526295" "94526295" "subst" "0" "00000" "ABCA4_001347" "g.94526295C>A" "" "{PMID:Khan 2020:32307445}" "" "c.1958G>T" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901297" "0" "70" "1" "94480179" "94480179" "subst" "0" "00000" "ABCA4_000991" "g.94480179C>G" "" "{PMID:Khan 2020:32307445}" "" "c.5380G>C" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901298" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Khan 2020:32307445}" "" "c.5882G>A(;)6216T>G" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901299" "0" "70" "1" "94467480" "94467480" "subst" "0" "00000" "ABCA4_002461" "g.94467480A>C" "" "{PMID:Khan 2020:32307445}" "" "c.5882G>A(;)6216T>G" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901300" "0" "70" "1" "94486835" "94486835" "subst" "0" "00000" "ABCA4_001018" "g.94486835G>A" "" "{PMID:Khan 2020:32307445}" "" "c.4979C>T" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901301" "3" "70" "1" "94486835" "94486835" "subst" "0" "00000" "ABCA4_001018" "g.94486835G>A" "" "{PMID:Khan 2020:32307445}" "" "c.4979C>T" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901302" "3" "70" "1" "94486835" "94486835" "subst" "0" "00000" "ABCA4_001018" "g.94486835G>A" "" "{PMID:Khan 2020:32307445}" "" "c.4979C>T" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901303" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Khan 2020:32307445}" "" "c.5882G>A" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901304" "0" "90" "1" "94471056" "94471056" "subst" "2.84398E-5" "00000" "ABCA4_000050" "g.94471056G>A" "" "{PMID:Khan 2020:32307445}" "" "c.6088C>T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901305" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901306" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "00000" "ABCA4_000034" "g.94517254C>G" "" "Maugeri 1999; Sangermano 2018" "" "c.2588G>C" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901307" "0" "90" "1" "94461752" "94461752" "subst" "0" "00000" "ABCA4_000849" "g.94461752C>G" "" "{PMID:Khan 2020:32307445}" "" "c.6730-1G>C" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901308" "0" "50" "1" "94496580" "94496580" "subst" "0" "00000" "ABCA4_000564" "g.94496580T>C" "" "{PMID:Khan 2020:32307445}" "" "c.4225A>G" "" "Unknown" "" "" "0" "" "" "" "" "VUS" ""
"0000901309" "0" "70" "1" "94490567" "94490567" "subst" "5.68528E-5" "00000" "ABCA4_000026" "g.94490567G>A" "" "{PMID:Khan 2020:32307445}" "" "c.4577C>T" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901310" "0" "50" "1" "94496580" "94496580" "subst" "0" "00000" "ABCA4_000564" "g.94496580T>C" "" "{PMID:Khan 2020:32307445}" "" "c.4225A>G" "" "Unknown" "" "" "0" "" "" "" "" "VUS" ""
"0000901311" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901312" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "00000" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Khan 2020:32307445}" "" "c.6079C>T" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901313" "0" "70" "1" "94577135" "94577135" "subst" "2.43718E-5" "00000" "ABCA4_000240" "g.94577135C>T" "" "Fadaie 2019" "" "c.161G>A" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901314" "0" "70" "1" "94580645" "94580645" "subst" "0" "00000" "ABCA4_002512" "g.94580645A>C" "" "Khan 2020" "" "c.67-2023T>G" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901315" "0" "70" "1" "94546283" "94546283" "subst" "8.18311E-5" "00000" "ABCA4_000356" "g.94546283A>G" "" "Sangermano 2018" "" "c.859-9T>C" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901316" "0" "70" "1" "94526295" "94526295" "subst" "3.69731E-5" "00000" "ABCA4_000114" "g.94526295C>T" "" "{PMID:Khan 2020:32307445}" "" "c.1958G>A" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901317" "0" "70" "1" "94546117" "94546117" "subst" "0" "00000" "ABCA4_002503" "g.94546117C>A" "" "{PMID:Khan 2020:32307445}" "" "c.1016G>T" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901318" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901319" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "00000" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Khan 2020:32307445}" "" "c.4139C>T" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901320" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "00000" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Khan 2020:32307445}" "" "c.4139C>T" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901321" "0" "90" "1" "94485137" "94485137" "subst" "0" "00000" "ABCA4_000464" "g.94485137C>T" "" "{PMID:Khan 2020:32307445}" "" "c.5196+1G>A" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901322" "0" "90" "1" "94564366" "94564366" "del" "0" "00000" "ABCA4_002509" "g.94564366del" "" "{PMID:Khan 2020:32307445}" "" "c.752del" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901323" "0" "70" "1" "94487488" "94487488" "subst" "0" "00000" "ABCA4_002476" "g.94487488C>T" "" "{PMID:Khan 2020:32307445}" "" "c.4687G>A" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901324" "1" "50" "1" "94544977" "94544977" "subst" "0.000544432" "00000" "ABCA4_000332" "g.94544977A>T" "" "{PMID:Khan 2020:32307445}" "" "c.[1140T>A;5882G>A]" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "VUS" ""
"0000901325" "1" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Khan 2020:32307445}" "" "c.[1140T>A;5882G>A]" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901326" "1" "70" "1" "94520705" "94520705" "subst" "0" "00000" "ABCA4_000714" "g.94520705T>C" "" "{PMID:Khan 2020:32307445}" "" "c.[2549A>G;5882G>A]" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901327" "1" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Khan 2020:32307445}" "" "c.[2549A>G;5882G>A]" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901328" "0" "90" "1" "94526212" "94526212" "subst" "1.22012E-5" "00000" "ABCA4_000075" "g.94526212G>A" "" "{PMID:Khan 2020:32307445}" "" "c.2041C>T" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901329" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "00000" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Khan 2020:32307445}" "" "c.4139C>T" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901330" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "00000" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Khan 2020:32307445}" "" "c.3113C>T" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901331" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901332" "0" "90" "1" "94512499" "94512499" "subst" "0.000130029" "00000" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Khan 2020:32307445}" "" "c.2894A>G" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901333" "0" "70" "1" "94486850" "94486850" "subst" "0" "00000" "ABCA4_002471" "g.94486850G>A" "" "{PMID:Khan 2020:32307445}" "" "c.4964C>T" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901334" "0" "50" "1" "94485157" "94485157" "subst" "0" "00000" "ABCA4_000466" "g.94485157G>T" "" "{PMID:Khan 2020:32307445}" "" "c.5177C>A" "" "Unknown" "" "" "0" "" "" "" "" "VUS" ""
"0000901335" "1" "70" "1" "94496509" "94496509" "subst" "0.00475243" "00000" "ABCA4_001024" "g.94496509C>T" "" "Sangermano 2019" "" "c.[4253+43G>A;5603A>T]" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901336" "1" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.[4253+43G>A;5603A>T]" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901337" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901338" "0" "70" "1" "94496509" "94496509" "subst" "0.00475243" "00000" "ABCA4_001024" "g.94496509C>T" "" "Sangermano 2019" "" "c.4253+43G>A(;)4712T>A" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901339" "1" "90" "1" "94476951" "94476951" "subst" "0.000236097" "00000" "ABCA4_000025" "g.94476951A>G" "" "Sangermano,2016; 2018" "" "c.[5461-10T>C;5603A>T]" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901340" "0" "70" "1" "94487463" "94487463" "subst" "8.12189E-6" "00000" "ABCA4_001762" "g.94487463A>T" "" "{PMID:Khan 2020:32307445}" "" "c.4253+43G>A(;)4712T>A" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901341" "1" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.[5461-10T>C;5603A>T]" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901342" "0" "70" "1" "94509011" "94509011" "subst" "0" "00000" "ABCA4_002487" "g.94509011A>T" "" "{PMID:Khan 2020:32307445}" "" "c.3071T>A" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901343" "0" "90" "1" "94466426" "94466426" "subst" "1.62433E-5" "00000" "ABCA4_000124" "g.94466426G>A" "" "{PMID:Khan 2020:32307445}" "" "c.6445C>T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901344" "0" "90" "1" "94526296" "94526296" "subst" "1.64555E-5" "00000" "ABCA4_000768" "g.94526296G>A" "" "{PMID:Khan 2020:32307445}" "" "c.1957C>T" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901345" "0" "70" "1" "94502832" "94502832" "subst" "0" "00000" "ABCA4_001341" "g.94502832C>T" "" "{PMID:Khan 2020:32307445}" "" "c.3682G>A" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901346" "0" "70" "1" "94466474" "94466474" "subst" "0" "00000" "ABCA4_001202" "g.94466474A>G" "" "{PMID:Khan 2020:32307445}" "" "c.6397T>C" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901347" "0" "90" "1" "94528164" "94528164" "subst" "2.03336E-5" "00000" "ABCA4_000267" "g.94528164G>A" "" "{PMID:Khan 2020:32307445}" "" "c.1906C>T" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901348" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901349" "0" "90" "1" "94522192" "94522192" "subst" "0" "00000" "ABCA4_002489" "g.94522192G>A" "" "{PMID:Khan 2020:32307445}" "" "c.2347C>T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901350" "0" "90" "1" "94561288" "94565348" "del" "0" "00000" "ABCA4_002507" "g.94561288_94565348del" "" "{PMID:Khan 2020:32307445}" "" "c.571-801_768+3062del" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901351" "0" "50" "1" "94476824" "94476824" "subst" "8.12889E-6" "00000" "ABCA4_000428" "g.94476824G>A" "" "{PMID:Khan 2020:32307445}" "" "c.5578C>T" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "VUS" ""
"0000901352" "0" "90" "1" "94480222" "94480222" "subst" "4.06121E-6" "00000" "ABCA4_000442" "g.94480222G>T" "" "{PMID:Khan 2020:32307445}" "" "c.5337C>A" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901353" "0" "50" "1" "94476824" "94476824" "subst" "8.12889E-6" "00000" "ABCA4_000428" "g.94476824G>A" "" "{PMID:Khan 2020:32307445}" "" "c.5578C>T" "" "Unknown" "" "" "0" "" "" "" "" "VUS" ""
"0000901354" "0" "90" "1" "94480222" "94480222" "subst" "4.06121E-6" "00000" "ABCA4_000442" "g.94480222G>T" "" "{PMID:Khan 2020:32307445}" "" "c.5337C>A" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901355" "0" "50" "1" "94476824" "94476824" "subst" "8.12889E-6" "00000" "ABCA4_000428" "g.94476824G>A" "" "{PMID:Khan 2020:32307445}" "" "c.5578C>T" "" "Unknown" "" "" "0" "" "" "" "" "VUS" ""
"0000901356" "0" "70" "1" "94520705" "94520705" "subst" "0" "00000" "ABCA4_000714" "g.94520705T>C" "" "{PMID:Khan 2020:32307445}" "" "c.2549A>G" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901357" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Khan 2020:32307445}" "" "c.5882G>A" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901358" "3" "90" "1" "94564484" "94564484" "subst" "0.000110199" "00000" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Khan 2020:32307445}" "" "c.634C>T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901359" "3" "90" "1" "94564484" "94564484" "subst" "0.000110199" "00000" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Khan 2020:32307445}" "" "c.634C>T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901360" "0" "90" "1" "94480222" "94480222" "subst" "4.06121E-6" "00000" "ABCA4_000442" "g.94480222G>T" "" "{PMID:Khan 2020:32307445}" "" "c.5337C>A" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901361" "0" "50" "1" "94476824" "94476824" "subst" "8.12889E-6" "00000" "ABCA4_000428" "g.94476824G>A" "" "{PMID:Khan 2020:32307445}" "" "c.5578C>T" "" "Unknown" "" "" "0" "" "" "" "" "VUS" ""
"0000901362" "0" "70" "1" "94520823" "94520823" "subst" "6.91822E-5" "00000" "ABCA4_002029" "g.94520823G>A" "" "{PMID:Khan 2020:32307445}" "" "c.2431C>T(;)5603A>T" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901363" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "00000" "ABCA4_000996" "g.94476351C>T" "" "Sangermano 2018" "" "c.5714+5G>A" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901364" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.2431C>T(;)5603A>T" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901365" "1" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "00000" "ABCA4_000997" "g.94495071C>T" "" "{PMID:Khan 2020:32307445}" "" "c.[4469G>A;5603A>T]" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901366" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "00000" "ABCA4_000996" "g.94476351C>T" "" "Sangermano 2018" "" "c.5714+5G>A" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901367" "1" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.[4469G>A;5603A>T]" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901368" "0" "90" "1" "94520665" "94520665" "subst" "0" "00000" "ABCA4_000707" "g.94520665A>G" "" "{PMID:Khan 2020:32307445}" "" "c.2587+2T>C" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901369" "0" "90" "1" "94495003" "94495003" "dup" "0" "00000" "ABCA4_000087" "g.94495003dup" "" "{PMID:Khan 2020:32307445}" "" "c.4537dup" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901370" "0" "70" "1" "94577135" "94577135" "subst" "2.43718E-5" "00000" "ABCA4_000240" "g.94577135C>T" "" "Fadaie 2019" "" "c.161G>A" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901371" "0" "90" "1" "94564484" "94564484" "subst" "0.000110199" "00000" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Khan 2020:32307445}" "" "c.634C>T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901372" "1" "70" "1" "94487479" "94487479" "subst" "4.06151E-6" "00000" "ABCA4_001765" "g.94487479G>A" "" "{PMID:Khan 2020:32307445}" "" "c.[4696C>T;5603A>T]" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901373" "1" "90" "1" "94476951" "94476951" "subst" "0.000236097" "00000" "ABCA4_000025" "g.94476951A>G" "" "Sangermano,2016; 2018" "" "c.[5461-10T>C;5603A>T]" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901374" "3" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.[4696C>T;5603A>T]" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901375" "3" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.[5461-10T>C;5603A>T]" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901376" "1" "90" "1" "94476951" "94476951" "subst" "0.000236097" "00000" "ABCA4_000025" "g.94476951A>G" "" "Sangermano,2016; 2018" "" "c.[5461-10T>C;5603A>T]" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901377" "3" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901378" "3" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.[5461-10T>C;5603A>T]" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901379" "0" "70" "1" "94577010" "94577010" "subst" "1.22004E-5" "00000" "ABCA4_000224" "g.94577010T>C" "" "{PMID:Khan 2020:32307445}" "" "c.286A>G" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901380" "0" "70" "1" "94506901" "94506901" "subst" "4.06138E-6" "00000" "ABCA4_000622" "g.94506901C>T" "" "{PMID:Khan 2020:32307445}" "" "c.3386G>A(;)5603A>T" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901381" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.3386G>A(;)5603A>T" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901382" "3" "70" "1" "94528780" "94528780" "subst" "4.06171E-6" "00000" "ABCA4_000299" "g.94528780C>T" "" "{PMID:Khan 2020:32307445}" "" "c.1648G>A" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901383" "3" "70" "1" "94528780" "94528780" "subst" "4.06171E-6" "00000" "ABCA4_000299" "g.94528780C>T" "" "{PMID:Khan 2020:32307445}" "" "c.1648G>A" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901384" "0" "90" "1" "94496016" "94496016" "del" "0" "00000" "ABCA4_000551" "g.94496016del" "" "{PMID:Khan 2020:32307445}" "" "c.4320del" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901385" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Khan 2020:32307445}" "" "c.5882G>A" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901386" "0" "90" "1" "94528785" "94528785" "subst" "0" "00000" "ABCA4_001543" "g.94528785C>T" "" "{PMID:Khan 2020:32307445}" "" "c.1643G>A" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901387" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901388" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Khan 2020:32307445}" "" "c.5882G>A" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901389" "0" "90" "1" "94509026" "94509026" "subst" "4.06497E-5" "00000" "ABCA4_000660" "g.94509026G>A" "" "{PMID:Khan 2020:32307445}" "" "c.3056C>T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901390" "0" "70" "1" "94496509" "94496509" "subst" "0.00475243" "00000" "ABCA4_001024" "g.94496509C>T" "" "Sangermano 2019" "" "c.4253+43G>A" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901391" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "00000" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Khan 2020:32307445}" "" "c.3386G>T" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901392" "1" "70" "1" "94517254" "94517254" "subst" "0.00442654" "00000" "ABCA4_000034" "g.94517254C>G" "" "Maugeri 1999; Sangermano 2018" "" "c.[2588G>C;5603A>T]" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901393" "2" "90" "1" "94476951" "94476951" "subst" "0.000236097" "00000" "ABCA4_000025" "g.94476951A>G" "" "Sangermano,2016; 2018" "" "c.[5461-10T>C;5603A>T]" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901394" "3" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.[2588G>C;5603A>T]" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901395" "3" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.[5461-10T>C;5603A>T]" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901396" "0" "90" "1" "94512505" "94512505" "del" "4.06392E-6" "00000" "ABCA4_000155" "g.94512505del" "" "{PMID:Khan 2020:32307445}" "" "c.2888del(;)5603A>T" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901397" "3" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901398" "3" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.2888del(;)5603A>T" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901399" "0" "70" "1" "94506923" "94506923" "subst" "2.43657E-5" "00000" "ABCA4_000012" "g.94506923C>T" "" "{PMID:Khan 2020:32307445}" "" "c.3364G>A" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901400" "0" "90" "1" "94578597" "94578597" "subst" "0" "00000" "ABCA4_000250" "g.94578597C>T" "" "{PMID:Khan 2020:32307445}" "" "c.92G>A" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901401" "0" "70" "1" "94496547" "94496547" "subst" "1.21904E-5" "00000" "ABCA4_000560" "g.94496547C>T" "" "Sangermano 2018" "" "c.4253+5G>A" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901402" "0" "50" "1" "94546264" "94546264" "subst" "4.08077E-6" "00000" "ABCA4_001352" "g.94546264C>T" "" "{PMID:Khan 2020:32307445}" "" "c.869G>A" "" "Unknown" "" "" "0" "" "" "" "" "VUS" ""
"0000901403" "0" "90" "1" "94489769" "94489769" "subst" "0" "00000" "ABCA4_002478" "g.94489769T>C" "" "Khan 2020" "" "c.4634+741A>G" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901404" "0" "90" "1" "94512499" "94512499" "subst" "0.000130029" "00000" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Khan 2020:32307445}" "" "c.2894A>G" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901405" "0" "90" "1" "94476947" "94476947" "subst" "0" "00000" "ABCA4_002467" "g.94476947A>C" "" "Khan 2020" "" "c.5461-6T>G" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901406" "0" "70" "1" "94484001" "94484001" "subst" "0" "00000" "ABCA4_000016" "g.94484001C>T" "" "Khan, intron 36, unpublished; Braun et al. HMG, 2013 (V1)" "" "c.5196+1137G>A" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901407" "0" "90" "1" "94562910" "94569916" "del" "0" "00000" "ABCA4_002508" "g.94562910_94569916del" "" "{PMID:Khan 2020:32307445}" "" "c.443-1219_768+1439del" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901408" "0" "90" "1" "94528666" "94528666" "subst" "0" "00000" "ABCA4_000289" "g.94528666A>C" "" "{PMID:Khan 2020:32307445}" "" "c.1760+2T>G" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901409" "0" "90" "1" "94466555" "94466555" "subst" "0" "00000" "ABCA4_002458" "g.94466555T>C" "" "Khan 2020" "" "c.6386+3A>G" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901410" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "00000" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Khan 2020:32307445}" "" "c.1804C>T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901411" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T(;)5882G>A" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901412" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T(;)5882G>A" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901413" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "00000" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Khan 2020:32307445}" "" "c.6079C>T" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901414" "0" "70" "1" "94474323" "94474323" "subst" "2.03034E-5" "00000" "ABCA4_000156" "g.94474323A>G" "" "{PMID:Khan 2020:32307445}" "" "c.5819T>C" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901415" "0" "90" "1" "94487455" "94487455" "subst" "4.06128E-6" "00000" "ABCA4_000504" "g.94487455C>A" "" "{PMID:Khan 2020:32307445}" "" "c.4720G>T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901416" "0" "70" "1" "94528143" "94528143" "subst" "0.00124448" "00000" "ABCA4_000076" "g.94528143C>T" "" "{PMID:Khan 2020:32307445}" "" "c.1927G>A" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901417" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "00000" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Khan 2020:32307445}" "" "c.3386G>T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901418" "0" "90" "1" "94490612" "94490612" "subst" "0" "00000" "ABCA4_002480" "g.94490612A>T" "" "Khan 2020" "" "c.4540-8T>A" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901419" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "00000" "ABCA4_000996" "g.94476351C>T" "" "Sangermano 2018" "" "c.5714+5G>A" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901420" "0" "90" "1" "94502295" "94502295" "subst" "0" "00000" "ABCA4_000589" "g.94502295C>T" "" "{PMID:Khan 2020:32307445}" "" "c.3862+1G>A" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901421" "0" "70" "1" "94484001" "94484001" "subst" "0" "00000" "ABCA4_000016" "g.94484001C>T" "" "Khan, intron 36, unpublished; Braun et al. HMG, 2013 (V1)" "" "c.5196+1137G>A" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901422" "0" "70" "1" "94528780" "94528780" "subst" "4.06171E-6" "00000" "ABCA4_000299" "g.94528780C>T" "" "{PMID:Khan 2020:32307445}" "" "c.1648G>A" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901423" "0" "90" "1" "94509799" "94509799" "subst" "0" "00000" "ABCA4_000925" "g.94509799G>A" "" "Fadaie 2019" "" "c.3050+370C>T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901424" "1" "70" "1" "94486895" "94486895" "subst" "3.24923E-5" "00000" "ABCA4_000484" "g.94486895C>T" "" "{PMID:Khan 2020:32307445}" "" "c.[4919G>A;5603A>T]" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901425" "1" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.[4919G>A;5603A>T]" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901426" "0" "70" "1" "94528152" "94528152" "subst" "4.06613E-6" "00000" "ABCA4_002070" "g.94528152G>C" "" "{PMID:Khan 2020:32307445}" "" "c.1918C>G(;)5603A>T" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901427" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Khan 2020:32307445}" "" "c.5882G>A" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901428" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.1918C>G(;)5603A>T" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901429" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Khan 2020:32307445}" "" "c.5882G>A" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901430" "1" "90" "1" "94476951" "94476951" "subst" "0.000236097" "00000" "ABCA4_000025" "g.94476951A>G" "" "Sangermano,2016; 2018" "" "c.[5461-10T>C;5603A>T]" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901431" "1" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.[5461-10T>C;5603A>T]" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901432" "0" "90" "1" "94485159" "94485159" "dup" "0" "00000" "ABCA4_001453" "g.94485159dup" "" "{PMID:Khan 2020:32307445}" "" "c.5175dup(;)5603A>T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901433" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Khan 2020:32307445}" "" "c.5882G>A" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901434" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5175dup(;)5603A>T" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901435" "1" "70" "1" "94517254" "94517254" "subst" "0.00442654" "00000" "ABCA4_000034" "g.94517254C>G" "" "Maugeri 1999; Sangermano 2018" "" "c.[2588G>C;5603A>T]" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901436" "0" "90" "1" "94487213" "94487213" "del" "0" "00000" "ABCA4_002473" "g.94487213del" "" "{PMID:Khan 2020:32307445}" "" "c.4831del" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901437" "1" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.[2588G>C;5603A>T]" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901438" "0" "90" "1" "94485159" "94485159" "dup" "0" "00000" "ABCA4_001453" "g.94485159dup" "" "{PMID:Khan 2020:32307445}" "" "c.5175dup(;)5603A>T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901439" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "00000" "ABCA4_000996" "g.94476351C>T" "" "Sangermano 2018" "" "c.5714+5G>A" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901440" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5175dup(;)5603A>T" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901441" "0" "90" "1" "94485159" "94485159" "dup" "0" "00000" "ABCA4_001453" "g.94485159dup" "" "{PMID:Khan 2020:32307445}" "" "c.5175dup(;)5603A>T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901442" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "00000" "ABCA4_000996" "g.94476351C>T" "" "Sangermano 2018" "" "c.5714+5G>A" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901443" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5175dup(;)5603A>T" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901444" "0" "90" "1" "94526212" "94526212" "subst" "1.22012E-5" "00000" "ABCA4_000075" "g.94526212G>A" "" "{PMID:Khan 2020:32307445}" "" "c.2041C>T" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901445" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901446" "0" "90" "1" "94526212" "94526212" "subst" "1.22012E-5" "00000" "ABCA4_000075" "g.94526212G>A" "" "{PMID:Khan 2020:32307445}" "" "c.2041C>T" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901447" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901448" "0" "70" "1" "94574147" "94574147" "subst" "8.12236E-6" "00000" "ABCA4_000213" "g.94574147G>A" "" "{PMID:Khan 2020:32307445}" "" "c.428C>T" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901449" "1" "90" "1" "94476951" "94476951" "subst" "0.000236097" "00000" "ABCA4_000025" "g.94476951A>G" "" "Sangermano,2016; 2018" "" "c.[5461-10T>C;5603A>T]" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901450" "1" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.[5461-10T>C;5603A>T]" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901451" "0" "90" "1" "94526212" "94526212" "subst" "1.22012E-5" "00000" "ABCA4_000075" "g.94526212G>A" "" "{PMID:Khan 2020:32307445}" "" "c.2041C>T" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901452" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901453" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901454" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901455" "0" "90" "1" "94471056" "94471056" "subst" "2.84398E-5" "00000" "ABCA4_000050" "g.94471056G>A" "" "{PMID:Khan 2020:32307445}" "" "c.6088C>T(;)5603A>T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901456" "0" "70" "1" "94484001" "94484001" "subst" "0" "00000" "ABCA4_000016" "g.94484001C>T" "" "Khan, intron 36, unpublished; Braun et al. HMG, 2013 (V1)" "" "c.5196+1137G>A" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901457" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.6088C>T(;)5603A>T" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901458" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "00000" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Khan 2020:32307445}" "" "c.3322C>T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901459" "1" "90" "1" "94476951" "94476951" "subst" "0.000236097" "00000" "ABCA4_000025" "g.94476951A>G" "" "Sangermano,2016; 2018" "" "c.[5461-10T>C;5603A>T]" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901460" "1" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.[5461-10T>C;5603A>T]" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901461" "3" "70" "1" "94546283" "94546283" "subst" "8.18311E-5" "00000" "ABCA4_000356" "g.94546283A>G" "" "Sangermano 2018" "" "c.859-9T>C" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901462" "3" "70" "1" "94546283" "94546283" "subst" "8.18311E-5" "00000" "ABCA4_000356" "g.94546283A>G" "" "Sangermano 2018" "" "c.859-9T>C" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901463" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "00000" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Khan 2020:32307445}" "" "c.3386G>T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901464" "1" "90" "1" "94476951" "94476951" "subst" "0.000236097" "00000" "ABCA4_000025" "g.94476951A>G" "" "Sangermano,2016; 2018" "" "c.[5461-10T>C;5603A>T]" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901465" "1" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.[5461-10T>C;5603A>T]" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901466" "0" "90" "1" "94564484" "94564484" "subst" "0.000110199" "00000" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Khan 2020:32307445}" "" "c.634C>T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901467" "0" "90" "1" "94495923" "94495923" "subst" "0" "00000" "ABCA4_001255" "g.94495923C>T" "" "Fadaie 2019" "" "c.4352+61G>A" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901468" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "00000" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Khan 2020:32307445}" "" "c.3113C>T" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901469" "0" "90" "1" "94505674" "94505677" "dup" "0" "00000" "ABCA4_000609" "g.94505674_94505677dup" "" "{PMID:Khan 2020:32307445}" "" "c.3529_3532dup" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901470" "0" "70" "1" "94527698" "94527698" "subst" "0" "00000" "ABCA4_001310" "g.94527698G>C" "" "Sangermano 2019" "" "c.1937+435C>G" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901471" "0" "70" "1" "94522302" "94522302" "subst" "0" "00000" "ABCA4_002491" "g.94522302A>T" "" "{PMID:Khan 2020:32307445}" "" "c.2237T>A" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901472" "0" "90" "1" "94508386" "94508386" "subst" "1.62443E-5" "00000" "ABCA4_000642" "g.94508386C>T" "" "{PMID:Khan 2020:32307445}" "" "c.3259G>A" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901473" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901474" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901475" "0" "90" "1" "94514521" "94514521" "subst" "8.12559E-6" "00000" "ABCA4_001234" "g.94514521A>C" "" "Khan 2020" "" "c.2654-8T>G" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901476" "0" "70" "1" "94506923" "94506923" "subst" "2.43657E-5" "00000" "ABCA4_000012" "g.94506923C>T" "" "{PMID:Khan 2020:32307445}" "" "c.3364G>A" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901477" "1" "90" "1" "94476951" "94476951" "subst" "0.000236097" "00000" "ABCA4_000025" "g.94476951A>G" "" "Sangermano,2016; 2018" "" "c.[5461-10T>C;5603A>T]" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901478" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Khan 2020:32307445}" "" "c.5882G>A(;)570+1798A>G" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901479" "1" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.[5461-10T>C;5603A>T]" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901480" "0" "90" "1" "94566773" "94566773" "subst" "0" "00000" "ABCA4_000946" "g.94566773T>C" "" "Khan 2020" "" "c.5882G>A(;)570+1798A>G" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901481" "1" "90" "1" "94476951" "94476951" "subst" "0.000236097" "00000" "ABCA4_000025" "g.94476951A>G" "" "Sangermano,2016; 2018" "" "c.[5461-10T>C;5603A>T]" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901482" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Khan 2020:32307445}" "" "c.5882G>A" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901483" "1" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.[5461-10T>C;5603A>T]" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901484" "0" "70" "1" "94484001" "94484001" "subst" "0" "00000" "ABCA4_000016" "g.94484001C>T" "" "Khan, intron 36, unpublished; Braun et al. HMG, 2013 (V1)" "" "c.5196+1137G>A" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901485" "3" "70" "1" "94463398" "94463412" "del" "7.33472E-5" "00000" "ABCA4_000851" "g.94463398_94463412del" "" "Sangermano 2018" "" "c.6729+5_6729+19del" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901486" "3" "70" "1" "94463398" "94463412" "del" "7.33472E-5" "00000" "ABCA4_000851" "g.94463398_94463412del" "" "Sangermano 2018" "" "c.6729+5_6729+19del" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901487" "0" "90" "1" "94510248" "94510248" "subst" "0.000544123" "00000" "ABCA4_000107" "g.94510248C>G" "" "{PMID:Khan 2020:32307445}" "" "c.2971G>C" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901488" "0" "90" "1" "94466624" "94466624" "subst" "0.0014345" "00000" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Khan 2020:32307445}" "" "c.6320G>A" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901489" "1" "90" "1" "94476951" "94476951" "subst" "0.000236097" "00000" "ABCA4_000025" "g.94476951A>G" "" "Sangermano,2016; 2018" "" "c.[5461-10T>C;5603A>T]" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901490" "0" "70" "1" "94467475" "94467475" "subst" "1.62463E-5" "00000" "ABCA4_001599" "g.94467475C>T" "" "{PMID:Khan 2020:32307445}" "" "c.6221G>A" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901491" "1" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.[5461-10T>C;5603A>T]" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901492" "0" "50" "1" "94517225" "94517225" "subst" "8.12249E-6" "00000" "ABCA4_000703" "g.94517225A>G" "" "{PMID:Khan 2020:32307445}" "" "c.2617T>C" "" "Unknown" "" "" "0" "" "" "" "" "VUS" ""
"0000901493" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Khan 2020:32307445}" "" "c.5882G>A" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901494" "0" "70" "1" "94496679" "94496679" "subst" "0" "00000" "ABCA4_002482" "g.94496679G>A" "" "Khan 2020" "" "c.4129-3C>T" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901495" "0" "90" "1" "94517960" "94517960" "subst" "0" "00000" "ABCA4_002488" "g.94517960G>A" "" "Khan 2020" "" "c.2588-706C>T(;)5603A>T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901496" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.2588-706C>T(;)5603A>T" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901497" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "00000" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Khan 2020:32307445}" "" "c.[1622T>C;3113C>T]" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901498" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901499" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "00000" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Khan 2020:32307445}" "" "c.[1622T>C;3113C>T]" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901500" "1" "70" "1" "94517254" "94517254" "subst" "0.00442654" "00000" "ABCA4_000034" "g.94517254C>G" "" "Maugeri 1999; Sangermano 2018" "" "c.[2588G>C;5603A>T]" "c.(2653+1_2654-1)_(*1_?)del" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901501" "0" "90" "1" "94458393" "94514514" "del" "0" "00000" "ABCA4_002592" "g.(?_94458393)_(94514514_94517188)del" "" "{PMID:Khan 2020:32307445}" "" "c.(2653+1_2654-1)_(*1_?)del" "" "Unknown" "" "" "0" "" "" "g.(?_93992837)_(94048958_94051632)del" "" "pathogenic (recessive)" ""
"0000901502" "1" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.[2588G>C;5603A>T]" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901503" "0" "90" "1" "94496571" "94496571" "subst" "4.06174E-6" "00000" "ABCA4_000111" "g.94496571G>A" "" "{PMID:Khan 2020:32307445}" "" "c.4234C>T" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901504" "0" "70" "1" "94466624" "94466624" "subst" "0" "00000" "ABCA4_000838" "g.94466624C>G" "" "{PMID:Khan 2020:32307445}" "" "c.6320G>C" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901505" "0" "70" "1" "94484001" "94484001" "subst" "0" "00000" "ABCA4_000016" "g.94484001C>T" "" "Khan, intron 36, unpublished; Braun et al. HMG, 2013 (V1)" "" "c.5196+1137G>A" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901506" "0" "90" "1" "94564009" "94564419" "del" "0" "00000" "ABCA4_002170" "g.94564009_94564419del" "" "{PMID:Khan 2020:32307445}" "" "c.699_768+341del" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901507" "0" "70" "1" "94526196" "94526196" "subst" "0" "00000" "ABCA4_000757" "g.94526196A>G" "" "{PMID:Khan 2020:32307445}" "" "c.2057T>C" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901508" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901509" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "00000" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Khan 2020:32307445}" "" "c.3386G>T" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901510" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901511" "0" "90" "1" "94546183" "94546183" "del" "4.06762E-6" "00000" "ABCA4_000350" "g.94546183del" "" "{PMID:Khan 2020:32307445}" "" "c.950del" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901512" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Khan 2020:32307445}" "" "c.5882G>A" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901513" "1" "50" "1" "94486888" "94486888" "subst" "3.65548E-5" "00000" "ABCA4_000137" "g.94486888G>C" "" "{PMID:Khan 2020:32307445}" "" "c.[4926C>G;5044_5058del]" "" "Unknown" "" "" "0" "" "" "" "" "VUS" ""
"0000901514" "0" "70" "1" "94466564" "94466564" "subst" "0" "00000" "ABCA4_001579" "g.94466564G>A" "" "{PMID:Khan 2020:32307445}" "" "c.6380C>T" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901515" "1" "70" "1" "94485276" "94485290" "del" "2.45441E-5" "00000" "ABCA4_000476" "g.94485276_94485290del" "" "{PMID:Khan 2020:32307445}" "" "c.[4926C>G;5044_5058del]" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901516" "0" "90" "1" "94577009" "94577009" "del" "0" "00000" "ABCA4_000160" "g.94577009del" "" "{PMID:Khan 2020:32307445}" "" "c.287del" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901517" "0" "90" "1" "94495003" "94495003" "dup" "0" "00000" "ABCA4_000087" "g.94495003dup" "" "{PMID:Khan 2020:32307445}" "" "c.4537dup" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901518" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "00000" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Khan 2020:32307445}" "" "c.3386G>T" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901519" "3" "90" "1" "94495003" "94495003" "dup" "0" "00000" "ABCA4_000087" "g.94495003dup" "" "{PMID:Khan 2020:32307445}" "" "c.4537dup" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901520" "3" "90" "1" "94495003" "94495003" "dup" "0" "00000" "ABCA4_000087" "g.94495003dup" "" "{PMID:Khan 2020:32307445}" "" "c.4537dup" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901521" "0" "70" "1" "94461693" "94461693" "subst" "4.0655E-6" "00000" "ABCA4_002455" "g.94461693C>G" "" "{PMID:Khan 2020:32307445}" "" "c.6788G>C" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901522" "0" "90" "1" "94544895" "94544895" "subst" "1.62455E-5" "00000" "ABCA4_000329" "g.94544895G>A" "" "{PMID:Khan 2020:32307445}" "" "c.1222C>T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901523" "0" "70" "1" "94496509" "94496509" "subst" "0.00475243" "00000" "ABCA4_001024" "g.94496509C>T" "" "Sangermano 2019" "" "c.4253+43G>A(;)5603A>T" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901524" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.4253+43G>A(;)5603A>T" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901525" "0" "90" "1" "94487193" "94487193" "subst" "0" "00000" "ABCA4_002472" "g.94487193T>C" "" "Khan 2020" "" "c.4848+3A>G" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901526" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Khan 2020:32307445}" "" "c.5882G>A" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901527" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "00000" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Khan 2020:32307445}" "" "c.3386G>T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901528" "1" "90" "1" "94476951" "94476951" "subst" "0.000236097" "00000" "ABCA4_000025" "g.94476951A>G" "" "Sangermano,2016; 2018" "" "c.[5461-10T>C;5603A>T]" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901529" "1" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.[5461-10T>C;5603A>T]" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901530" "0" "70" "1" "94495083" "94495083" "subst" "0.000124542" "00000" "ABCA4_000542" "g.94495083G>A" "" "{PMID:Khan 2020:32307445}" "" "c.4457C>T" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901531" "1" "90" "1" "94476951" "94476951" "subst" "0.000236097" "00000" "ABCA4_000025" "g.94476951A>G" "" "Sangermano,2016; 2018" "" "c.[5461-10T>C;5603A>T]" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901532" "1" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.[5461-10T>C;5603A>T]" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901533" "0" "70" "1" "94577135" "94577135" "subst" "2.43718E-5" "00000" "ABCA4_000240" "g.94577135C>T" "" "Fadaie 2019" "" "c.161G>A" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901534" "0" "70" "1" "94484001" "94484001" "subst" "0" "00000" "ABCA4_000016" "g.94484001C>T" "" "Khan, intron 36, unpublished; Braun et al. HMG, 2013 (V1)" "" "c.5196+1137G>A" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901535" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "00000" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Khan 2020:32307445}" "" "c.3322C>T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901536" "0" "70" "1" "94492973" "94492973" "subst" "0" "00000" "ABCA4_000030" "g.94492973G>A" "" "Albert 2018 (V5 in Braun et al. HMG, 2013)" "" "c.4539+2028C>T" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901537" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "00000" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Khan 2020:32307445}" "" "c.4139C>T" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901538" "0" "70" "1" "94492973" "94492973" "subst" "0" "00000" "ABCA4_000030" "g.94492973G>A" "" "Albert 2018 (V5 in Braun et al. HMG, 2013)" "" "c.4539+2028C>T" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901539" "0" "70" "1" "94496509" "94496509" "subst" "0.00475243" "00000" "ABCA4_001024" "g.94496509C>T" "" "Sangermano 2019" "" "c.4253+43G>A" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901540" "0" "70" "1" "94495177" "94495177" "subst" "1.22342E-5" "00000" "ABCA4_000023" "g.94495177A>G" "" "{PMID:Khan 2020:32307445}" "" "c.4363T>C" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901541" "0" "50" "1" "94476377" "94476377" "subst" "0.00160473" "00000" "ABCA4_000411" "g.94476377C>T" "" "{PMID:Khan 2020:32307445}" "" "c.5693G>A" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "VUS" ""
"0000901542" "0" "70" "1" "94564529" "94564529" "subst" "5.82712E-5" "00000" "ABCA4_002510" "g.94564529C>G" "" "{PMID:Khan 2020:32307445}" "" "c.589G>C" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901543" "0" "70" "1" "94484001" "94484001" "subst" "0" "00000" "ABCA4_000016" "g.94484001C>T" "" "Khan, intron 36, unpublished; Braun et al. HMG, 2013 (V1)" "" "c.5196+1137G>A" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901544" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "00000" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Khan 2020:32307445}" "" "c.6079C>T" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901545" "0" "70" "1" "94492973" "94492973" "subst" "0" "00000" "ABCA4_000030" "g.94492973G>A" "" "Albert 2018 (V5 in Braun et al. HMG, 2013)" "" "c.4539+2028C>T" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901546" "0" "70" "1" "94466399" "94466399" "subst" "0" "00000" "ABCA4_002457" "g.94466399T>C" "" "{PMID:Khan 2020:32307445}" "" "c.6472A>G" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901547" "0" "70" "1" "94496583" "94496583" "subst" "2.03092E-5" "00000" "ABCA4_000190" "g.94496583A>G" "" "{PMID:Khan 2020:32307445}" "" "c.4222T>C" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901548" "0" "70" "1" "94486896" "94486896" "subst" "3.65562E-5" "00000" "ABCA4_000085" "g.94486896G>A" "" "{PMID:Khan 2020:32307445}" "" "c.4918C>T" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901549" "0" "90" "1" "94564383" "94564383" "subst" "0" "00000" "ABCA4_000371" "g.94564383A>C" "" "{PMID:Khan 2020:32307445}" "" "c.735T>G" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901550" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901551" "0" "70" "1" "94577010" "94577010" "subst" "4.06679E-6" "00000" "ABCA4_000225" "g.94577010T>G" "" "{PMID:Khan 2020:32307445}" "" "c.286A>C" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901552" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901553" "1" "70" "1" "94517254" "94517254" "subst" "0.00442654" "00000" "ABCA4_000034" "g.94517254C>G" "" "Maugeri 1999; Sangermano 2018" "" "c.[2588G>C;5603A>T]" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901554" "1" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.[2588G>C;5603A>T]" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901555" "0" "70" "1" "94490567" "94490567" "subst" "5.68528E-5" "00000" "ABCA4_000026" "g.94490567G>A" "" "{PMID:Khan 2020:32307445}" "" "c.4577C>T" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901556" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901557" "1" "90" "1" "94476951" "94476951" "subst" "0.000236097" "00000" "ABCA4_000025" "g.94476951A>G" "" "Sangermano,2016; 2018" "" "c.[5461-10T>C;5603A>T]" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901558" "0" "70" "1" "94473266" "94473266" "subst" "8.14677E-6" "00000" "ABCA4_000389" "g.94473266C>T" "" "{PMID:Khan 2020:32307445}" "" "c.5929G>A" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901559" "1" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.[5461-10T>C;5603A>T]" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901560" "0" "90" "1" "94544895" "94544895" "subst" "1.62455E-5" "00000" "ABCA4_000329" "g.94544895G>A" "" "{PMID:Khan 2020:32307445}" "" "c.1222C>T" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901561" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901562" "1" "70" "1" "94517254" "94517254" "subst" "0.00442654" "00000" "ABCA4_000034" "g.94517254C>G" "" "Maugeri 1999; Sangermano 2018" "" "c.[2588G>C;5603A>T]" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901563" "1" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.[2588G>C;5603A>T]" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901564" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "00000" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Khan 2020:32307445}" "" "c.1804C>T" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901565" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901566" "1" "70" "1" "94517254" "94517254" "subst" "0.00442654" "00000" "ABCA4_000034" "g.94517254C>G" "" "Maugeri 1999; Sangermano 2018" "" "c.[2588G>C;5603A>T]" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901567" "1" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.[2588G>C;5603A>T]" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901568" "1" "70" "1" "94517254" "94517254" "subst" "0.00442654" "00000" "ABCA4_000034" "g.94517254C>G" "" "Maugeri 1999; Sangermano 2018" "" "c.[2588G>C;5603A>T]" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901569" "1" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.[2588G>C;5603A>T]" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901570" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901571" "1" "70" "1" "94517254" "94517254" "subst" "0.00442654" "00000" "ABCA4_000034" "g.94517254C>G" "" "Maugeri 1999; Sangermano 2018" "" "c.[2588G>C;5603A>T]" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901572" "1" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.[2588G>C;5603A>T]" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901573" "3" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901574" "3" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901575" "1" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "00000" "ABCA4_000997" "g.94495071C>T" "" "{PMID:Khan 2020:32307445}" "" "c.[4469G>A;5603A>T]" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901576" "3" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901577" "3" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.[4469G>A;5603A>T]" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901578" "0" "70" "1" "94492973" "94492973" "subst" "0" "00000" "ABCA4_000030" "g.94492973G>A" "" "Albert 2018 (V5 in Braun et al. HMG, 2013)" "" "c.4539+2028C>T" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901579" "0" "70" "1" "94486896" "94486896" "subst" "3.65562E-5" "00000" "ABCA4_000085" "g.94486896G>A" "" "{PMID:Khan 2020:32307445}" "" "c.4918C>T(;)c.4222T>C" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901580" "0" "70" "1" "94496583" "94496583" "subst" "2.03092E-5" "00000" "ABCA4_000190" "g.94496583A>G" "" "{PMID:Khan 2020:32307445}" "" "c.4918C>T(;)c.4222T>C" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901581" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901582" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "00000" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Khan 2020:32307445}" "" "c.4139C>T" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901583" "0" "70" "1" "94492973" "94492973" "subst" "0" "00000" "ABCA4_000030" "g.94492973G>A" "" "Albert 2018 (V5 in Braun et al. HMG, 2013)" "" "c.4539+2028C>T" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901584" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901585" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "00000" "ABCA4_000034" "g.94517254C>G" "" "Maugeri 1999; Sangermano 2018" "" "c.2588G>C" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901586" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901587" "0" "50" "1" "94568686" "94568686" "subst" "0.00258122" "00000" "ABCA4_000212" "g.94568686C>T" "" "{PMID:Khan 2020:32307445}" "" "c.455G>A" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "VUS" ""
"0000901588" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "00000" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Khan 2020:32307445}" "" "c.3386G>T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901589" "0" "90" "1" "94495003" "94495003" "dup" "0" "00000" "ABCA4_000087" "g.94495003dup" "" "{PMID:Khan 2020:32307445}" "" "c.4537dup" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901590" "1" "70" "1" "94528265" "94528265" "subst" "0" "00000" "ABCA4_002497" "g.94528265C>A" "" "{PMID:Khan 2020:32307445}" "" "c.[1805G>T;4667+1G>A]" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901591" "0" "70" "1" "94498663" "94498663" "subst" "0" "00000" "ABCA4_002483" "g.94498663T>C" "" "Khan 2020" "" "c.3863-1064A>G" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901592" "1" "90" "1" "94488941" "94488941" "subst" "4.09836E-6" "00000" "ABCA4_000127" "g.94488941C>T" "" "{PMID:Khan 2020:32307445}" "" "c.[1805G>T;4667+1G>A]" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901593" "1" "50" "1" "94568686" "94568686" "subst" "0.00258122" "00000" "ABCA4_000212" "g.94568686C>T" "" "{PMID:Khan 2020:32307445}" "" "c.[455G>A;3322C>T;5603A>T;6320G>A]" "" "Unknown" "?" "" "0" "" "" "" "" "VUS" ""
"0000901594" "1" "90" "1" "94508323" "94508323" "subst" "0.000125953" "00000" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Khan 2020:32307445}" "" "c.[455G>A;3322C>T;5603A>T;6320G>A]" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901595" "1" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.[455G>A;3322C>T;5603A>T;6320G>A]" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901596" "1" "90" "1" "94466624" "94466624" "subst" "0.0014345" "00000" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Khan 2020:32307445}" "" "c.[455G>A;3322C>T;5603A>T;6320G>A]" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901597" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901598" "0" "90" "1" "94509026" "94509026" "subst" "4.06497E-5" "00000" "ABCA4_000660" "g.94509026G>A" "" "{PMID:Khan 2020:32307445}" "" "c.3056C>T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901599" "0" "70" "1" "94580645" "94580645" "subst" "0" "00000" "ABCA4_002512" "g.94580645A>C" "" "Khan 2020" "" "c.67-2023T>G" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901600" "0" "70" "1" "94481296" "94481296" "subst" "4.07329E-6" "00000" "ABCA4_001532" "g.94481296C>T" "" "{PMID:Khan 2020:32307445}" "" "c.5311G>A" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901601" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901602" "3" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901603" "3" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901604" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "00000" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Khan 2020:32307445}" "" "c.[1622T>C;3113C>T]" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901605" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "00000" "ABCA4_000996" "g.94476351C>T" "" "Sangermano 2018" "" "c.5714+5G>A" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901606" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "00000" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Khan 2020:32307445}" "" "c.[1622T>C;3113C>T]" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901607" "3" "90" "1" "94496571" "94496571" "subst" "4.06174E-6" "00000" "ABCA4_000111" "g.94496571G>A" "" "{PMID:Khan 2020:32307445}" "" "c.4234C>T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901608" "3" "90" "1" "94496571" "94496571" "subst" "4.06174E-6" "00000" "ABCA4_000111" "g.94496571G>A" "" "{PMID:Khan 2020:32307445}" "" "c.4234C>T" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901609" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "00000" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Khan 2020:32307445}" "" "c.[1622T>C;3113C>T]" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901610" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Khan 2020:32307445}" "" "c.5882G>A" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901611" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "00000" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Khan 2020:32307445}" "" "c.[1622T>C;3113C>T]" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901612" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "00000" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Khan 2020:32307445}" "" "c.[1622T>C;3113C>T]" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901613" "0" "70" "1" "94522234" "94522248" "del" "0" "00000" "ABCA4_000735" "g.94522234_94522248del" "" "{PMID:Khan 2020:32307445}" "" "c.2291_2305del" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901614" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "00000" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Khan 2020:32307445}" "" "c.[1622T>C;3113C>T]" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901615" "0" "90" "1" "94528167" "94528167" "subst" "0" "00000" "ABCA4_000268" "g.94528167G>A" "" "{PMID:Khan 2020:32307445}" "" "c.1903C>T" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901616" "0" "90" "1" "94484082" "94484082" "subst" "0" "00000" "ABCA4_000028" "g.94484082T>C" "" "Khan, intron 36, unpublished; Braun et al. HMG, 2013 (V3)" "" "c.5196+1056A>G" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901617" "3" "70" "1" "94528806" "94528806" "subst" "0.000150298" "00000" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Khan 2020:32307445}" "" "c.[1622T>C;3113C>T]" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901618" "3" "70" "1" "94528806" "94528806" "subst" "0.000150298" "00000" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Khan 2020:32307445}" "" "c.[1622T>C;3113C>T]" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901619" "3" "90" "1" "94508969" "94508969" "subst" "0.00168642" "00000" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Khan 2020:32307445}" "" "c.[1622T>C;3113C>T]" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901620" "3" "90" "1" "94508969" "94508969" "subst" "0.00168642" "00000" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Khan 2020:32307445}" "" "c.[1622T>C;3113C>T]" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901621" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "00000" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Khan 2020:32307445}" "" "c.[1622T>C;3113C>T]" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901622" "0" "70" "1" "94497392" "94497392" "subst" "0" "00000" "ABCA4_000577" "g.94497392G>A" "" "{PMID:Khan 2020:32307445}" "" "c.4070C>T" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901623" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "00000" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Khan 2020:32307445}" "" "c.[1622T>C;3113C>T]" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901624" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "00000" "ABCA4_000045" "g.94564350C>A" "" "Sangermano 2018" "" "c.768G>T" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901625" "0" "70" "1" "94480241" "94480241" "subst" "7.71705E-5" "00000" "ABCA4_000446" "g.94480241G>A" "" "{PMID:Khan 2020:32307445}" "" "c.5318C>T" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901626" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "00000" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Khan 2020:32307445}" "" "c.[1622T>C;3113C>T]" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901627" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "00000" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Khan 2020:32307445}" "" "c.4139C>T" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901628" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "00000" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Khan 2020:32307445}" "" "c.[1622T>C;3113C>T]" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901629" "0" "90" "1" "94528867" "94528867" "del" "0" "00000" "ABCA4_000304" "g.94528867del" "" "{PMID:Khan 2020:32307445}" "" "c.1561del" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901630" "0" "70" "1" "94467632" "94467632" "subst" "0" "00000" "ABCA4_002462" "g.94467632T>A" "" "Khan 2020" "" "c.6148-84A>T" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901631" "0" "90" "1" "94481294" "94481294" "subst" "0" "00000" "ABCA4_000110" "g.94481294C>T" "" "{PMID:Khan 2020:32307445}" "" "c.5312+1G>A" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901632" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "00000" "ABCA4_000996" "g.94476351C>T" "" "Sangermano 2018" "" "c.5714+5G>A" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901633" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "00000" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Khan 2020:32307445}" "" "c.[1622T>C;3113C>T]" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901634" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901635" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "00000" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Khan 2020:32307445}" "" "c.[1622T>C;3113C>T]" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901636" "0" "50" "1" "94564462" "94564462" "subst" "4.06775E-5" "00000" "ABCA4_000380" "g.94564462C>G" "" "{PMID:Khan 2020:32307445}" "" "c.656G>C(;)2588G>C(;)5603A>T" "" "Unknown" "?" "" "0" "" "" "" "" "VUS" ""
"0000901637" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "00000" "ABCA4_000034" "g.94517254C>G" "" "Maugeri 1999; Sangermano 2018" "" "c.656G>C(;)2588G>C(;)5603A>T" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901638" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "00000" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Khan 2020:32307445}" "" "c.[1622T>C;3113C>T]" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901639" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.656G>C(;)2588G>C(;)5603A>T" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901640" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "00000" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Khan 2020:32307445}" "" "c.[1622T>C;3113C>T]" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901641" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "00000" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Khan 2020:32307445}" "" "c.[1622T>C;3113C>T]" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901642" "0" "90" "1" "94484082" "94484082" "subst" "0" "00000" "ABCA4_000028" "g.94484082T>C" "" "Khan, intron 36, unpublished; Braun et al. HMG, 2013 (V3)" "" "c.5196+1056A>G" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901643" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "00000" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Khan 2020:32307445}" "" "c.[1622T>C;3113C>T]" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901644" "1" "90" "1" "94476951" "94476951" "subst" "0.000236097" "00000" "ABCA4_000025" "g.94476951A>G" "" "Sangermano,2016; 2018" "" "c.[5461-10T>C;5603A>T]" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901645" "3" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901646" "3" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.[5461-10T>C;5603A>T]" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901647" "0" "70" "1" "94486895" "94486895" "subst" "3.24923E-5" "00000" "ABCA4_000484" "g.94486895C>T" "" "{PMID:Khan 2020:32307445}" "" "c.4919G>A" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901648" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Khan 2020:32307445}" "" "c.5882G>A" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901649" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "00000" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Khan 2020:32307445}" "" "c.[1622T>C;3113C>T]" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901650" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Khan 2020:32307445}" "" "c.5882G>A" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901651" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "00000" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Khan 2020:32307445}" "" "c.[1622T>C;3113C>T]" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901652" "0" "90" "1" "94528167" "94528167" "subst" "0" "00000" "ABCA4_000268" "g.94528167G>A" "" "{PMID:Khan 2020:32307445}" "" "c.1903C>T" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901653" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Khan 2020:32307445}" "" "c.5882G>A" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901654" "0" "90" "1" "94496571" "94496571" "subst" "4.06174E-6" "00000" "ABCA4_000111" "g.94496571G>A" "" "{PMID:Khan 2020:32307445}" "" "c.4234C>T" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901655" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Khan 2020:32307445}" "" "c.5882G>A" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901656" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "00000" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Khan 2020:32307445}" "" "c.[1622T>C;3113C>T]" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901657" "0" "70" "1" "94486895" "94486895" "subst" "3.24923E-5" "00000" "ABCA4_000484" "g.94486895C>T" "" "{PMID:Khan 2020:32307445}" "" "c.4919G>A" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901658" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "00000" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Khan 2020:32307445}" "" "c.[1622T>C;3113C>T]" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901659" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "00000" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Khan 2020:32307445}" "" "c.[1622T>C;3113C>T]" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901660" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Khan 2020:32307445}" "" "c.5882G>A" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901661" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "00000" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Khan 2020:32307445}" "" "c.[1622T>C;3113C>T]" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901662" "0" "70" "1" "94502296" "94502296" "subst" "4.06072E-6" "00000" "ABCA4_002484" "g.94502296C>T" "" "Khan 2020" "" "c.3862G>A" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901663" "0" "90" "1" "94484082" "94484082" "subst" "0" "00000" "ABCA4_000028" "g.94484082T>C" "" "Khan, intron 36, unpublished; Braun et al. HMG, 2013 (V3)" "" "c.5196+1056A>G" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901664" "1" "70" "1" "94517254" "94517254" "subst" "0.00442654" "00000" "ABCA4_000034" "g.94517254C>G" "" "Maugeri 1999; Sangermano 2018" "" "c.[2588G>C;5603A>T]" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901665" "0" "90" "1" "94496571" "94496571" "subst" "4.06174E-6" "00000" "ABCA4_000111" "g.94496571G>A" "" "{PMID:Khan 2020:32307445}" "" "c.4234C>T" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901666" "1" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.[2588G>C;5603A>T]" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901667" "3" "90" "1" "94466426" "94466426" "subst" "1.62433E-5" "00000" "ABCA4_000124" "g.94466426G>A" "" "{PMID:Khan 2020:32307445}" "" "c.6445C>T" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901668" "3" "90" "1" "94466426" "94466426" "subst" "1.62433E-5" "00000" "ABCA4_000124" "g.94466426G>A" "" "{PMID:Khan 2020:32307445}" "" "c.6445C>T" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901669" "0" "90" "1" "94544185" "94544185" "subst" "8.12137E-6" "00000" "ABCA4_000177" "g.94544185C>T" "" "{PMID:Khan 2020:32307445}" "" "c.1317G>A" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901670" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901671" "0" "50" "1" "94546265" "94546265" "subst" "2.04063E-5" "00000" "ABCA4_000355" "g.94546265G>A" "" "{PMID:Khan 2020:32307445}" "" "c.868C>T" "" "Unknown" "?" "" "0" "" "" "" "" "VUS" ""
"0000901672" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901673" "0" "70" "1" "94496509" "94496509" "subst" "0.00475243" "00000" "ABCA4_001024" "g.94496509C>T" "" "Sangermano 2019" "" "c.4253+43G>A" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901674" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901675" "0" "70" "1" "94471055" "94471055" "subst" "0.00035346" "00000" "ABCA4_000029" "g.94471055C>T" "" "{PMID:Khan 2020:32307445}" "" "c.6089G>A" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901676" "0" "90" "1" "94480098" "94480098" "subst" "0" "00000" "ABCA4_000437" "g.94480098C>T" "" "{PMID:Khan 2020:32307445}" "" "c.5460+1G>A" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901677" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901678" "0" "70" "1" "94549781" "94549781" "subst" "0" "00000" "ABCA4_001046" "g.94549781G>A" "" "Sangermano 2019" "" "c.769-784C>T" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901679" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "00000" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Khan 2020:32307445}" "" "c.4139C>T(;)5882G>A" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901680" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Khan 2020:32307445}" "" "c.4139C>T(;)5882G>A" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901681" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Khan 2020:32307445}" "" "c.5882G>A" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901682" "0" "50" "1" "94485257" "94485257" "subst" "0.00017945" "00000" "ABCA4_000100" "g.94485257C>T" "" "{PMID:Khan 2020:32307445}" "" "c.5077G>A" "" "Unknown" "?" "" "0" "" "" "" "" "VUS" ""
"0000901683" "0" "90" "1" "94496571" "94496571" "subst" "4.06174E-6" "00000" "ABCA4_000111" "g.94496571G>A" "" "{PMID:Khan 2020:32307445}" "" "c.4234C>T" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901684" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "00000" "ABCA4_000045" "g.94564350C>A" "" "Sangermano 2018" "" "c.768G>T" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901685" "0" "70" "1" "94493000" "94493000" "subst" "0" "00000" "ABCA4_000015" "g.94493000C>T" "" "Albert 2018 (V4 in Braun et al. HMG, 2013)" "" "c.4539+2001G>A" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901686" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "00000" "ABCA4_000045" "g.94564350C>A" "" "Sangermano 2018" "" "c.768G>T" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901687" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901688" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "00000" "ABCA4_000045" "g.94564350C>A" "" "Sangermano 2018" "" "c.768G>T" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901689" "0" "70" "1" "94528248" "94528248" "subst" "1.22148E-5" "00000" "ABCA4_000279" "g.94528248A>T" "" "{PMID:Khan 2020:32307445}" "" "c.1822T>A" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901690" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901691" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T(;)6155del" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901692" "0" "90" "1" "94466634" "94466635" "del" "0" "00000" "ABCA4_002459" "g.94466634_94466635del" "" "{PMID:Khan 2020:32307445}" "" "c.6309_6310del" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901693" "0" "90" "1" "94467541" "94467541" "del" "0" "00000" "ABCA4_000955" "g.94467541del" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T(;)6155del" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901694" "0" "90" "1" "94485137" "94485137" "subst" "0" "00000" "ABCA4_000465" "g.94485137C>A" "" "{PMID:Khan 2020:32307445}" "" "c.5196+1G>T" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901695" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901696" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Khan 2020:32307445}" "" "c.5882G>A" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901697" "0" "70" "1" "94546780" "94546780" "subst" "0" "00000" "ABCA4_001271" "g.94546780C>G" "" "Sangermano 2019" "" "c.859-506G>C" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901698" "0" "70" "1" "94506952" "94506952" "subst" "0" "00000" "ABCA4_000628" "g.94506952G>T" "" "{PMID:Khan 2020:32307445}" "" "c.3335C>A" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901699" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901700" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901701" "1" "90" "1" "94476951" "94476951" "subst" "0.000236097" "00000" "ABCA4_000025" "g.94476951A>G" "" "Sangermano,2016; 2018" "" "c.[5461-10T>C;5603A>T]" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901702" "3" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901703" "3" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.[5461-10T>C;5603A>T]" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901704" "1" "70" "1" "94549781" "94549781" "subst" "0" "00000" "ABCA4_001046" "g.94549781G>A" "" "Sangermano 2019" "" "c.[769-784C>T;5603A>T]" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901705" "2" "90" "1" "94476951" "94476951" "subst" "0.000236097" "00000" "ABCA4_000025" "g.94476951A>G" "" "Sangermano,2016; 2018" "" "c.[5461-10T>C;5603A>T]" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901706" "3" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.[769-784C>T;5603A>T]" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901707" "3" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.[5461-10T>C;5603A>T]" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
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"0000901773" "1" "90" "1" "94476951" "94476951" "subst" "0.000236097" "00000" "ABCA4_000025" "g.94476951A>G" "" "Sangermano,2016; 2018" "" "c.[5461-10T>C;5603A>T]" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901774" "3" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
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"0000901776" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "00000" "ABCA4_000996" "g.94476351C>T" "" "Sangermano 2018" "" "c.5714+5G>A" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
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"0000901778" "0" "90" "1" "94528096" "94528096" "subst" "0" "00000" "ABCA4_002496" "g.94528096G>C" "" "Khan 2020" "" "c.1937+37C>G" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901779" "0" "70" "1" "94486896" "94486896" "subst" "3.65562E-5" "00000" "ABCA4_000085" "g.94486896G>A" "" "{PMID:Khan 2020:32307445}" "" "c.4918C>T" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901780" "0" "90" "1" "94528096" "94528096" "subst" "0" "00000" "ABCA4_002496" "g.94528096G>C" "" "Khan 2020" "" "c.1937+37C>G" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901781" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "00000" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Khan 2020:32307445}" "" "c.[1622T>C;3113C>T]" "" "Unknown" "no" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901782" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T" "" "Unknown" "no" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901783" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "00000" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Khan 2020:32307445}" "" "c.[1622T>C;3113C>T]" "" "Unknown" "no" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901784" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "00000" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Khan 2020:32307445}" "" "c.[1622T>C;3113C>T]" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901785" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901786" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "00000" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Khan 2020:32307445}" "" "c.[1622T>C;3113C>T]" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901787" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "00000" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Khan 2020:32307445}" "" "c.6079C>T" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901788" "0" "70" "1" "94471067" "94471067" "subst" "4.06237E-6" "00000" "ABCA4_001001" "g.94471067A>G" "" "{PMID:Khan 2020:32307445}" "" "c.6077T>C" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901789" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901790" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901791" "0" "90" "1" "94495003" "94495003" "del" "0" "00000" "ABCA4_000534" "g.94495003del" "" "{PMID:Khan 2020:32307445}" "" "c.4537del" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901792" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901793" "0" "50" "1" "94473287" "94473287" "subst" "0.00293818" "00000" "ABCA4_000395" "g.94473287G>A" "" "{PMID:Khan 2020:32307445}" "" "c.5908C>T" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "VUS" ""
"0000901794" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901795" "0" "70" "1" "94495989" "94495989" "subst" "8.12229E-6" "00000" "ABCA4_001090" "g.94495989C>A" "" "{PMID:Khan 2020:32307445}" "" "c.4347G>T" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901796" "0" "90" "1" "94527518" "94529906" "delins" "0" "00000" "ABCA4_002495" "g.94527518_94529906delinsGCT" "" "{PMID:Khan 2020:32307445}" "" "c.1555-1033_1937+615delinsAGC" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901797" "0" "70" "1" "94492973" "94492973" "subst" "0" "00000" "ABCA4_000030" "g.94492973G>A" "" "Albert 2018 (V5 in Braun et al. HMG, 2013)" "" "c.4539+2028C>T" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901798" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Khan 2020:32307445}" "" "c.5882G>A" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901799" "0" "70" "1" "94486895" "94486895" "subst" "3.24923E-5" "00000" "ABCA4_000484" "g.94486895C>T" "" "{PMID:Khan 2020:32307445}" "" "c.4919G>A" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901800" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901801" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901802" "1" "70" "1" "94517254" "94517254" "subst" "0.00442654" "00000" "ABCA4_000034" "g.94517254C>G" "" "Maugeri 1999; Sangermano 2018" "" "c.[2588G>C;3289A>T;5603A>T]" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901803" "1" "90" "1" "94508356" "94508356" "subst" "0" "00000" "ABCA4_000635" "g.94508356T>A" "" "{PMID:Khan 2020:32307445}" "" "c.[2588G>C;3289A>T;5603A>T]" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901804" "1" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.[2588G>C;3289A>T;5603A>T]" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901805" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901806" "0" "50" "1" "94528774" "94528774" "subst" "0.00264827" "00000" "ABCA4_000298" "g.94528774C>T" "" "{PMID:Khan 2020:32307445}" "" "c.1654G>A" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "VUS" ""
"0000901807" "0" "70" "1" "94496509" "94496509" "subst" "0.00475243" "00000" "ABCA4_001024" "g.94496509C>T" "" "Sangermano 2019" "" "c.4253+43G>A" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901808" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901809" "1" "90" "1" "94476951" "94476951" "subst" "0.000236097" "00000" "ABCA4_000025" "g.94476951A>G" "" "Sangermano,2016; 2018" "" "c.[5461-10T>C;5603A>T]" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901810" "1" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.[5461-10T>C;5603A>T]" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901811" "1" "90" "1" "94476951" "94476951" "subst" "0.000236097" "00000" "ABCA4_000025" "g.94476951A>G" "" "Sangermano,2016; 2018" "" "c.[5461-10T>C;5603A>T]" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901812" "1" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.[5461-10T>C;5603A>T]" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901813" "0" "90" "1" "94496571" "94496571" "subst" "4.06174E-6" "00000" "ABCA4_000111" "g.94496571G>A" "" "{PMID:Khan 2020:32307445}" "" "c.4234C>T" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901814" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901815" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901816" "0" "90" "1" "94578527" "94578527" "subst" "0" "00000" "ABCA4_000243" "g.94578527A>G" "" "{PMID:Khan 2020:32307445}" "" "c.160+2T>C" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901817" "0" "70" "1" "94526936" "94526936" "subst" "0" "00000" "ABCA4_002494" "g.94526936C>T" "" "Khan 2020" "" "c.1938-621G>A" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901818" "0" "90" "1" "94485145" "94485145" "subst" "0" "00000" "ABCA4_001015" "g.94485145C>T" "" "{PMID:Khan 2020:32307445}" "" "c.5189G>A" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901819" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901820" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "00000" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Khan 2020:32307445}" "" "c.[1622T>C;3113C>T]" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901821" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901822" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "00000" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Khan 2020:32307445}" "" "c.[1622T>C;3113C>T]" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901823" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "00000" "ABCA4_000045" "g.94564350C>A" "" "Sangermano 2018" "" "c.768G>T" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901824" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901825" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901826" "0" "90" "1" "94496571" "94496571" "subst" "4.06174E-6" "00000" "ABCA4_000111" "g.94496571G>A" "" "{PMID:Khan 2020:32307445}" "" "c.4234C>T" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901827" "0" "70" "1" "94467467" "94467467" "subst" "4.06164E-6" "00000" "ABCA4_000780" "g.94467467G>A" "" "{PMID:Khan 2020:32307445}" "" "c.6229C>T" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901828" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901829" "0" "90" "1" "94466663" "94466664" "delins" "0" "00000" "ABCA4_001048" "g.94466663_94466664delinsCT" "" "{PMID:Khan 2020:32307445}" "" "c.6283-3_6283-2delinsAG" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901830" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901831" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901832" "1" "90" "1" "94476951" "94476951" "subst" "0.000236097" "00000" "ABCA4_000025" "g.94476951A>G" "" "Sangermano,2016; 2018" "" "c.[5461-10T>C;5603A>T]" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901833" "1" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.[5461-10T>C;5603A>T]" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901834" "0" "70" "1" "94496509" "94496509" "subst" "0.00475243" "00000" "ABCA4_001024" "g.94496509C>T" "" "Sangermano 2019" "" "c.4253+43G>A" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901835" "0" "70" "1" "94528248" "94528248" "subst" "1.22148E-5" "00000" "ABCA4_000279" "g.94528248A>T" "" "{PMID:Khan 2020:32307445}" "" "c.1822T>A" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901836" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901837" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901838" "0" "90" "1" "94543445" "94543445" "subst" "0" "00000" "ABCA4_001051" "g.94543445T>C" "" "{PMID:Khan 2020:32307445}" "" "c.1357-2A>G" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901839" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901840" "0" "70" "1" "94495077" "94495077" "subst" "0" "00000" "ABCA4_000184" "g.94495077C>T" "" "{PMID:Khan 2020:32307445}" "" "c.4463G>A(;)5603A>T" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901841" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.4463G>A(;)5603A>T" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901842" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901843" "0" "90" "1" "94549785" "94549785" "subst" "0" "00000" "ABCA4_002506" "g.94549785T>A" "" "Khan 2020" "" "c.769-788A>T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901844" "0" "90" "1" "94526092" "94526092" "subst" "0" "00000" "ABCA4_000749" "g.94526092C>A" "" "{PMID:Khan 2020:32307445}" "" "c.2160+1G>T" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901845" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901846" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "00000" "ABCA4_000045" "g.94564350C>A" "" "Sangermano 2018" "" "c.768G>T" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901847" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901848" "0" "70" "1" "94528277" "94528277" "subst" "0" "00000" "ABCA4_001052" "g.94528277A>C" "" "{PMID:Khan 2020:32307445}" "" "c.1793T>G" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901849" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "00000" "ABCA4_000034" "g.94517254C>G" "" "Maugeri 1999; Sangermano 2018" "" "c.2588G>C" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901850" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "00000" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Khan 2020:32307445}" "" "c.[1622T>C;3113C>T]" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901851" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901852" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "00000" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Khan 2020:32307445}" "" "c.[1622T>C;3113C>T]" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901853" "1" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "00000" "ABCA4_000997" "g.94495071C>T" "" "{PMID:Khan 2020:32307445}" "" "c.[4469G>A;5603A>T]" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901854" "1" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.[4469G>A;5603A>T]" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901855" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901856" "0" "70" "1" "94508373" "94508373" "subst" "0" "00000" "ABCA4_000639" "g.94508373C>T" "" "{PMID:Khan 2020:32307445}" "" "c.3272G>A" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901857" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901858" "0" "90" "1" "94578567" "94578567" "subst" "4.06204E-6" "00000" "ABCA4_000247" "g.94578567C>T" "" "{PMID:Khan 2020:32307445}" "" "c.122G>A" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901859" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901860" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901861" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "00000" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Khan 2020:32307445}" "" "c.[1622T>C;3113C>T]" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901862" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901863" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "00000" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Khan 2020:32307445}" "" "c.[1622T>C;3113C>T]" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901864" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901865" "0" "50" "1" "94476377" "94476377" "subst" "0.00160473" "00000" "ABCA4_000411" "g.94476377C>T" "" "{PMID:Khan 2020:32307445}" "" "c.5693G>A" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "VUS" ""
"0000901866" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901867" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "00000" "ABCA4_000034" "g.94517254C>G" "" "Maugeri 1999; Sangermano 2018" "" "c.2588G>C" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901868" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Khan 2020:32307445}" "" "c.5882G>A" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901869" "0" "50" "1" "94528774" "94528774" "subst" "0.00264827" "00000" "ABCA4_000298" "g.94528774C>T" "" "{PMID:Khan 2020:32307445}" "" "c.1654G>A" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "VUS" ""
"0000901870" "0" "90" "1" "94526092" "94526092" "subst" "0" "00000" "ABCA4_000749" "g.94526092C>A" "" "{PMID:Khan 2020:32307445}" "" "c.2160+1G>T" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901871" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901872" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901873" "0" "50" "1" "94495021" "94495021" "subst" "0.000161713" "00000" "ABCA4_000538" "g.94495021C>T" "" "{PMID:Khan 2020:32307445}" "" "c.4519G>A" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "VUS" ""
"0000901874" "0" "90" "1" "94471056" "94471056" "subst" "2.84398E-5" "00000" "ABCA4_000050" "g.94471056G>A" "" "{PMID:Khan 2020:32307445}" "" "c.6088C>T" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901875" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901876" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "00000" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Khan 2020:32307445}" "" "c.[1622T>C;3113C>T]" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901877" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901878" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "00000" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Khan 2020:32307445}" "" "c.[1622T>C;3113C>T]" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901879" "0" "90" "1" "94546047" "94546047" "subst" "0" "00000" "ABCA4_000150" "g.94546047A>T" "" "{PMID:Khan 2020:32307445}" "" "c.1086T>A(;)5603A>T" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901880" "3" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901881" "3" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.1086T>A(;)5603A>T" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901882" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901883" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901884" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "00000" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Khan 2020:32307445}" "" "c.[1622T>C;3113C>T]" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901885" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901886" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "00000" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Khan 2020:32307445}" "" "c.[1622T>C;3113C>T]" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901887" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901888" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901889" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901890" "0" "90" "1" "94528132" "94528132" "subst" "4.06835E-6" "00000" "ABCA4_000773" "g.94528132C>T" "" "{PMID:Khan 2020:32307445}" "" "c.1937+1G>A" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901891" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901892" "0" "70" "1" "94476853" "94476853" "subst" "4.06243E-6" "00000" "ABCA4_000429" "g.94476853A>G" "" "{PMID:Khan 2020:32307445}" "" "c.5549T>C" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901893" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "00000" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Khan 2020:32307445}" "" "c.[1622T>C;3113C>T]" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901894" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901895" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "00000" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Khan 2020:32307445}" "" "c.[1622T>C;3113C>T]" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901896" "0" "70" "1" "94496547" "94496547" "subst" "1.21904E-5" "00000" "ABCA4_000560" "g.94496547C>T" "" "Sangermano 2018" "" "c.4253+5G>A" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901897" "0" "90" "1" "94508933" "94508933" "subst" "2.43853E-5" "00000" "ABCA4_000134" "g.94508933C>T" "" "{PMID:Khan 2020:32307445}" "" "c.3149G>A" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901898" "0" "50" "1" "94476377" "94476377" "subst" "0.00160473" "00000" "ABCA4_000411" "g.94476377C>T" "" "{PMID:Khan 2020:32307445}" "" "c.5693G>A" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "VUS" ""
"0000901899" "0" "90" "1" "94528132" "94528132" "subst" "4.06835E-6" "00000" "ABCA4_000773" "g.94528132C>T" "" "{PMID:Khan 2020:32307445}" "" "c.1937+1G>A" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901900" "0" "50" "1" "94496080" "94496080" "subst" "0.000982813" "00000" "ABCA4_000558" "g.94496080A>G" "" "{PMID:Khan 2020:32307445}" "" "c.4256T>C" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "VUS" ""
"0000901901" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Khan 2020:32307445}" "" "c.5882G>A" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901902" "0" "50" "1" "94520708" "94520708" "subst" "0.00102774" "00000" "ABCA4_000074" "g.94520708A>G" "" "{PMID:Khan 2020:32307445}" "" "c.2546T>C" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "VUS" ""
"0000901903" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901904" "0" "50" "1" "94486905" "94486905" "subst" "0.000105614" "00000" "ABCA4_000485" "g.94486905C>T" "" "{PMID:Khan 2020:32307445}" "" "c.4909G>A" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "VUS" ""
"0000901905" "0" "90" "1" "94495003" "94495003" "del" "0" "00000" "ABCA4_000534" "g.94495003del" "" "{PMID:Khan 2020:32307445}" "" "c.4537del" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901906" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901907" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901908" "0" "70" "1" "94549781" "94549781" "subst" "0" "00000" "ABCA4_001046" "g.94549781G>A" "" "Sangermano 2019" "" "c.769-784C>T" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901909" "0" "90" "1" "94480248" "94480248" "del" "0" "00000" "ABCA4_001056" "g.94480248del" "" "{PMID:Khan 2020:32307445}" "" "c.5313-2del" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901910" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901911" "0" "70" "1" "94497392" "94497392" "subst" "0" "00000" "ABCA4_000577" "g.94497392G>A" "" "{PMID:Khan 2020:32307445}" "" "c.4070C>T" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901912" "0" "90" "1" "94495003" "94495003" "dup" "0" "00000" "ABCA4_000087" "g.94495003dup" "" "{PMID:Khan 2020:32307445}" "" "c.4537dup" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901913" "0" "70" "1" "94490511" "94490511" "subst" "0" "00000" "ABCA4_001058" "g.94490511T>C" "" "Khan 2019" "" "c.4633A>G" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901914" "0" "70" "1" "94466422" "94466422" "subst" "2.43651E-5" "00000" "ABCA4_000817" "g.94466422C>T" "" "{PMID:Khan 2020:32307445}" "" "c.6449G>A" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901915" "1" "90" "1" "94546183" "94546183" "del" "4.06762E-6" "00000" "ABCA4_000350" "g.94546183del" "" "{PMID:Khan 2020:32307445}" "" "c.[950delG;5603A>T;6148G>C]" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901916" "1" "50" "1" "94467548" "94467548" "subst" "0.00295661" "00000" "ABCA4_000788" "g.94467548C>G" "" "Khan 2019" "" "c.[950delG;5603A>T;6148G>C]" "" "Unknown" "?" "" "0" "" "" "" "" "VUS" ""
"0000901917" "1" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.[950delG;5603A>T;6148G>C]" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901918" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901919" "0" "90" "1" "94508434" "94508435" "dup" "0" "00000" "ABCA4_000998" "g.94508434_94508435dup" "" "{PMID:Khan 2020:32307445}" "" "c.3210_3211dup" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901920" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901921" "0" "50" "1" "94564544" "94564544" "subst" "0.000432798" "00000" "ABCA4_000383" "g.94564544C>T" "" "{PMID:Khan 2020:32307445}" "" "c.574G>A(;)3344T>C" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "VUS" ""
"0000901922" "0" "70" "1" "94506943" "94506943" "subst" "8.12183E-6" "00000" "ABCA4_001061" "g.94506943A>G" "" "{PMID:Khan 2020:32307445}" "" "c.574G>A(;)3344T>C" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901923" "1" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "00000" "ABCA4_000997" "g.94495071C>T" "" "{PMID:Khan 2020:32307445}" "" "c.[4469G>A;5603A>T]" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901924" "3" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901925" "3" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.[4469G>A;5603A>T]" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901926" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901927" "0" "70" "1" "94471055" "94471055" "subst" "0.00035346" "00000" "ABCA4_000029" "g.94471055C>T" "" "{PMID:Khan 2020:32307445}" "" "c.6089G>A" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901928" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "00000" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Khan 2020:32307445}" "" "c.3386G>T" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901929" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "00000" "ABCA4_000034" "g.94517254C>G" "" "Maugeri 1999; Sangermano 2018" "" "c.2588G>C" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901930" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "00000" "ABCA4_000996" "g.94476351C>T" "" "Sangermano 2018" "" "c.5714+5G>A" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901931" "0" "70" "1" "94577158" "94577158" "subst" "0" "00000" "ABCA4_002235" "g.94577158A>C" "" "Bauwens 2019" "" "c.161-23T>G" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901932" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901933" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901934" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901935" "0" "50" "1" "94568675" "94568675" "subst" "0.00146249" "00000" "ABCA4_000210" "g.94568675T>C" "" "{PMID:Khan 2020:32307445}" "" "c.466A>G" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "VUS" ""
"0000901936" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901937" "1" "90" "1" "94476951" "94476951" "subst" "0.000236097" "00000" "ABCA4_000025" "g.94476951A>G" "" "Sangermano,2016; 2018" "" "c.[5461-10T>C;5603A>T]" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901938" "3" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901939" "3" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.[5461-10T>C;5603A>T]" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901940" "0" "70" "1" "94467442" "94467442" "subst" "0" "00000" "ABCA4_001067" "g.94467442A>G" "" "{PMID:Khan 2020:32307445}" "" "c.6254T>C" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901941" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901942" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "00000" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Khan 2020:32307445}" "" "c.[1622T>C;3113C>T]" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901943" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901944" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "00000" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Khan 2020:32307445}" "" "c.[1622T>C;3113C>T]" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901945" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901946" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901947" "0" "90" "1" "94466628" "94466628" "subst" "0.000109748" "00000" "ABCA4_000094" "g.94466628G>A" "" "{PMID:Khan 2020:32307445}" "" "c.6316C>T" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901948" "1" "70" "1" "94546118" "94546118" "subst" "8.13326E-6" "00000" "ABCA4_000082" "g.94546118A>C" "" "{PMID:Khan 2020:32307445}" "" "c.[1015T>G;5603A>T]" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901949" "1" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.[1015T>G;5603A>T]" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901950" "0" "90" "1" "94492937" "94492937" "subst" "0" "00000" "ABCA4_000529" "g.94492937G>A" "" "Bauwens 2019" "" "c.4539+2064C>T" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901951" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901952" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "00000" "ABCA4_000034" "g.94517254C>G" "" "Maugeri 1999; Sangermano 2018" "" "c.2588G>C" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901953" "0" "70" "1" "94546118" "94546118" "subst" "8.13326E-6" "00000" "ABCA4_000082" "g.94546118A>C" "" "{PMID:Khan 2020:32307445}" "" "c.1015T>G" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901954" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901955" "1" "70" "1" "94546118" "94546118" "subst" "8.13326E-6" "00000" "ABCA4_000082" "g.94546118A>C" "" "{PMID:Khan 2020:32307445}" "" "c.[1015T>G;5603A>T]" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901956" "1" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.[1015T>G;5603A>T]" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901957" "0" "90" "1" "94508349" "94508349" "subst" "0" "00000" "ABCA4_001072" "g.94508349G>C" "" "{PMID:Khan 2020:32307445}" "" "c.3296C>G" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901958" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901959" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "00000" "ABCA4_000034" "g.94517254C>G" "" "Maugeri 1999; Sangermano 2018" "" "c.2588G>C" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901960" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901961" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901962" "0" "70" "1" "94493000" "94493000" "subst" "0" "00000" "ABCA4_000015" "g.94493000C>T" "" "Albert 2018 (V4 in Braun et al. HMG, 2013)" "" "c.4539+2001G>A" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901963" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901964" "0" "90" "1" "94528667" "94528667" "subst" "0" "00000" "ABCA4_001073" "g.94528667C>T" "" "{PMID:Khan 2020:32307445}" "" "c.1760+1G>A" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901965" "0" "70" "1" "94580645" "94580645" "subst" "0" "00000" "ABCA4_002512" "g.94580645A>C" "" "Khan 2020" "" "c.67-2023T>G" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901966" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901967" "0" "70" "1" "94546118" "94546118" "subst" "8.13326E-6" "00000" "ABCA4_000082" "g.94546118A>C" "" "{PMID:Khan 2020:32307445}" "" "c.1015T>G" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901968" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901969" "0" "70" "1" "94471037" "94471037" "subst" "0" "00000" "ABCA4_001062" "g.94471037T>C" "" "{PMID:Khan 2020:32307445}" "" "c.6107A>G" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901970" "0" "70" "1" "94526295" "94526295" "subst" "3.69731E-5" "00000" "ABCA4_000114" "g.94526295C>T" "" "{PMID:Khan 2020:32307445}" "" "c.1958G>A" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901971" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901972" "0" "50" "1" "94496039" "94496039" "subst" "0.00157963" "00000" "ABCA4_000552" "g.94496039C>T" "" "{PMID:Khan 2020:32307445}" "" "c.4297G>A" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "VUS" ""
"0000901973" "0" "50" "1" "94568686" "94568686" "subst" "0.00258122" "00000" "ABCA4_000212" "g.94568686C>T" "" "{PMID:Khan 2020:32307445}" "" "c.455G>A" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "VUS" ""
"0000901974" "0" "90" "1" "94496571" "94496571" "subst" "4.06174E-6" "00000" "ABCA4_000111" "g.94496571G>A" "" "{PMID:Khan 2020:32307445}" "" "c.4234C>T" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901975" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901976" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901977" "0" "90" "1" "94506959" "94506959" "subst" "8.12321E-6" "00000" "ABCA4_001078" "g.94506959C>T" "" "{PMID:Khan 2020:32307445}" "" "c. 3329-1G>A" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901978" "0" "70" "1" "94496509" "94496509" "subst" "0.00475243" "00000" "ABCA4_001024" "g.94496509C>T" "" "Sangermano 2019" "" "c.4253+43G>A" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901979" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "00000" "ABCA4_000045" "g.94564350C>A" "" "Sangermano 2018" "" "c.768G>T" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901980" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901981" "0" "50" "1" "94564460" "94564460" "subst" "8.1355E-6" "00000" "ABCA4_000056" "g.94564460G>A" "" "{PMID:Khan 2020:32307445}" "" "c.658C>T" "" "Unknown" "?" "" "0" "" "" "" "" "VUS" ""
"0000901982" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901983" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "00000" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Khan 2020:32307445}" "" "c.6079C>T" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901984" "0" "70" "1" "94496666" "94496666" "subst" "0.000219568" "00000" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Khan 2020:32307445}" "" "c.4139C>T" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901985" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901986" "1" "90" "1" "94508434" "94508435" "dup" "0" "00000" "ABCA4_000998" "g.94508434_94508435dup" "" "{PMID:Khan 2020:32307445}" "" "c.[3210_3211dup;5603A>T]" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901987" "1" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.[3210_3211dup;5603A>T]" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901988" "0" "70" "1" "94568581" "94568581" "subst" "3.65458E-5" "00000" "ABCA4_000202" "g.94568581C>T" "" "{PMID:Khan 2020:32307445}" "" "c.560G>A" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901989" "0" "70" "1" "94546118" "94546118" "subst" "8.13326E-6" "00000" "ABCA4_000082" "g.94546118A>C" "" "{PMID:Khan 2020:32307445}" "" "c.1015T>G" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901990" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901991" "0" "70" "1" "94496509" "94496509" "subst" "0.00475243" "00000" "ABCA4_001024" "g.94496509C>T" "" "Sangermano 2019" "" "c.4253+43G>A" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901992" "0" "70" "1" "94476893" "94476893" "subst" "0" "00000" "ABCA4_001059" "g.94476893G>A" "" "{PMID:Khan 2020:32307445}" "" "c.5509C>T" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901993" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901994" "0" "90" "1" "94487469" "94487469" "del" "0" "00000" "ABCA4_001081" "g.94487469del" "" "{PMID:Khan 2020:32307445}" "" "c.4706del" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901995" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901996" "0" "90" "1" "94495003" "94495003" "dup" "0" "00000" "ABCA4_000087" "g.94495003dup" "" "{PMID:Khan 2020:32307445}" "" "c.4537dup" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901997" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000901998" "0" "90" "1" "94520683" "94520683" "del" "0" "00000" "ABCA4_000709" "g.94520683del" "" "{PMID:Khan 2020:32307445}" "" "c.2571del" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000901999" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000902000" "0" "70" "1" "94496509" "94496509" "subst" "0.00475243" "00000" "ABCA4_001024" "g.94496509C>T" "" "Sangermano 2019" "" "c.4253+43G>A" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000902001" "0" "70" "1" "94496583" "94496583" "subst" "2.03092E-5" "00000" "ABCA4_000190" "g.94496583A>G" "" "{PMID:Khan 2020:32307445}" "" "c.4222T>C" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000902002" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000902003" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000902004" "0" "90" "1" "94502847" "94502847" "dup" "0" "00000" "ABCA4_001085" "g.94502847dup" "" "{PMID:Khan 2020:32307445}" "" "c.3667dup" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000902005" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000902006" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000902007" "0" "50" "1" "94463428" "94463428" "subst" "1.62621E-5" "00000" "ABCA4_000854" "g.94463428T>C" "" "{PMID:Khan 2020:32307445}" "" "c.6718A>G" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "VUS" ""
"0000902008" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000902009" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000902010" "0" "50" "1" "94485269" "94485269" "subst" "0" "00000" "ABCA4_000146" "g.94485269A>G" "" "{PMID:Khan 2020:32307445}" "" "c.5065T>C" "" "Unknown" "?" "" "0" "" "" "" "" "VUS" ""
"0000902011" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000902012" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Khan 2020:32307445}" "" "c.5882G>A" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000902013" "0" "90" "1" "94485185" "94485185" "subst" "0" "00000" "ABCA4_001087" "g.94485185C>A" "" "{PMID:Khan 2020:32307445}" "" "c.5149G>T" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000902014" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000902015" "0" "70" "1" "94502906" "94502906" "subst" "0.000314086" "00000" "ABCA4_000605" "g.94502906C>T" "" "Khan 2019" "" "c.3608G>A" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000902016" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000902017" "0" "90" "1" "94528714" "94528714" "subst" "0" "00000" "ABCA4_000296" "g.94528714G>A" "" "{PMID:Khan 2020:32307445}" "" "c.1714C>T" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000902018" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000902019" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "00000" "ABCA4_000045" "g.94564350C>A" "" "Sangermano 2018" "" "c.768G>T" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000902020" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000902021" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000902022" "0" "90" "1" "94463544" "94463545" "del" "0" "00000" "ABCA4_000804" "g.94463544_94463545del" "" "{PMID:Khan 2020:32307445}" "" "c.6601_6602del" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000902023" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000902024" "0" "70" "1" "94485275" "94485275" "subst" "4.09068E-5" "00000" "ABCA4_001089" "g.94485275T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5059A>T" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000902025" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000902026" "0" "70" "1" "94486895" "94486895" "subst" "3.24923E-5" "00000" "ABCA4_000484" "g.94486895C>T" "" "{PMID:Khan 2020:32307445}" "" "c.4919G>A" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000902027" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Khan 2020:32307445}" "" "c.5603A>T" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000902028" "0" "70" "1" "94466422" "94466422" "subst" "2.43651E-5" "00000" "ABCA4_000817" "g.94466422C>T" "" "{PMID:Khan 2020:32307445}" "" "c.6449G>A" "unknown variant 2nd chromosome" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000902943" "0" "50" "1" "94564529" "94564529" "subst" "5.82712E-5" "00000" "ABCA4_002510" "g.94564529C>G" "independent ARM (n=140): 0; all ARM (n=330): 0; control subjects (n=118): 0.009" "{PMID:Schmidt_2003:12824224}" "" "ABCA4 589G>C, Asp197Asn" "error in annotation, should be p.(Asp197His); exonic polymorphism, Fisher\'s exact test (two-sided): independent ARM patients versus control: 0.46; Armitage trend test: all ARM patients versus controls: 0." "Unknown" "?" "" "0" "" "" "g.94098973C>G" "" "VUS" ""
"0000902944" "0" "50" "1" "94564483" "94564483" "subst" "0.0409724" "00000" "ABCA4_000009" "g.94564483C>T" "independent ARM (n=140): 0.03; all ARM (n=330): 0.026; control subjects (n=118): 0" "{PMID:Schmidt_2003:12824224}" "" "ABCA4 635G>A, Arg212His" "exonic polymorphism, Fisher\'s exact test (two-sided): independent ARM patients versus control: 0.13; Armitage trend test: all ARM patients versus controls: 0." "Unknown" "?" "" "0" "" "" "g.94098927C>T" "" "VUS" ""
"0000902945" "0" "50" "1" "94544234" "94544234" "subst" "0.255245" "00000" "ABCA4_000322" "g.94544234T>C" "independent ARM (n=140): 0.394; all ARM (n=330): 0.371; control subjects (n=118): 0.427" "{PMID:Schmidt_2003:12824224}" "" "ABCA4 1268A>G, His423Arg" "exonic polymorphism, Fisher\'s exact test (two-sided): independent ARM patients versus control: 0.62; Exact Armitage trend test (two-sided): independent ARM patients versus control, robust to violated HWE: 0." "Unknown" "?" "" "0" "" "" "g.94078678T>C" "" "VUS" ""
"0000902946" "0" "50" "1" "94544233" "94544233" "subst" "0.0868298" "00000" "ABCA4_000980" "g.94544233G>A" "independent ARM (n=140): 0.033; all ARM (n=330): 0.039; control subjects (n=118): 0.031" "{PMID:Schmidt_2003:12824224}" "" "ABCA4 1269C>T, His423His(syn)" "exonic polymorphism, Fisher\'s exact test (two-sided): independent ARM patients versus control: 1; Armitage trend test: all ARM patients versus controls: 0." "Unknown" "?" "" "0" "" "" "g.94078677G>A" "" "VUS" ""
"0000902947" "0" "50" "1" "94514466" "94514466" "subst" "0.00192081" "00000" "ABCA4_000008" "g.94514466T>C" "independent ARM (n=140): 0; all ARM (n=330): 0.003; control subjects (n=118): 0" "{PMID:Schmidt_2003:12824224}" "" "ABCA4 2701A>G, Thr901Ala" "exonic polymorphism, Fisher\'s exact test (two-sided): independent ARM patients versus control: NA; Armitage trend test: all ARM patients versus controls: 0." "Unknown" "?" "" "0" "" "" "g.94048910T>C" "" "VUS" ""
"0000902948" "0" "50" "1" "94506792" "94506792" "subst" "4.06085E-6" "00000" "ABCA4_002516" "g.94506792G>A" "independent ARM (n=140): 0; all ARM (n=330): 0.003; control subjects (n=118): 0" "{PMID:Schmidt_2003:12824224}" "" "ABCA4 3495C>T, Asn1165Asn(syn)" "exonic polymorphism, Fisher\'s exact test (two-sided): independent ARM patients versus control: NA; Armitage trend test: all ARM patients versus controls: 0." "Unknown" "?" "" "0" "" "" "g.94041236G>A" "" "VUS" ""
"0000902949" "0" "50" "1" "94495071" "94495071" "subst" "6.39479E-5" "00000" "ABCA4_000997" "g.94495071C>T" "independent ARM (n=140): 0.007; all ARM (n=330): 0.003; control subjects (n=118): 0" "{PMID:Schmidt_2003:12824224}" "" "ABCA4 4469G>A, Cys1490Tyr" "exonic polymorphism, Fisher\'s exact test (two-sided): independent ARM patients versus control: 1; Armitage trend test: all ARM patients versus controls: 0." "Unknown" "?" "" "0" "" "" "g.94029515C>T" "" "VUS" ""
"0000902950" "0" "50" "1" "94481401" "94481401" "subst" "4.09199E-6" "00000" "ABCA4_000460" "g.94481401A>G" "independent ARM (n=140): 0.009; all ARM (n=330): 0.008; control subjects (n=118): 0" "{PMID:Schmidt_2003:12824224}" "" "ABCA4 5206T>C, Ser1736Pro" "exonic polymorphism, Fisher\'s exact test (two-sided): independent ARM patients versus control: 1; Armitage trend test: all ARM patients versus controls: 0." "Unknown" "?" "" "0" "" "" "g.94015845A>G" "" "VUS" ""
"0000902951" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "00000" "ABCA4_000007" "g.94476467T>A" "independent ARM (n=140): 0.1; all ARM (n=330): 0.102; control subjects (n=118): 0.054" "{PMID:Schmidt_2003:12824224}" "" "ABCA4 5603T>A, Asn1868Ile" "error in annotation, should be c.5603A>T; exonic polymorphism, Fisher\'s exact test (two-sided): independent ARM patients versus control: 0.29; Armitage trend test: all ARM patients versus controls: 0." "Unknown" "?" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000902952" "0" "50" "1" "94476388" "94476388" "subst" "0.215397" "00000" "ABCA4_000890" "g.94476388C>G" "independent ARM (n=140): 0.293; all ARM (n=330): 0.272; control subjects (n=118): 0.298" "{PMID:Schmidt_2003:12824224}" "" "ABCA4 5682G>C, Leu1894Leu(syn)" "exonic polymorphism, Fisher\'s exact test (two-sided): independent ARM patients versus control: 1; Armitage trend test: all ARM patients versus controls: 0." "Unknown" "?" "" "0" "" "" "g.94010832C>G" "" "VUS" ""
"0000902953" "0" "50" "1" "94474328" "94474328" "subst" "0.189409" "00000" "ABCA4_000886" "g.94474328T>C" "independent ARM (n=140): 0.16; all ARM (n=330): 0.169; control subjects (n=118): 0.218" "{PMID:Schmidt_2003:12824224}" "" "ABCA4 5814A>G, Leu1938Leu(syn)" "exonic polymorphism, Fisher\'s exact test (two-sided): independent ARM patients versus control: 0.33; Armitage trend test: all ARM patients versus controls: 0." "Unknown" "?" "" "0" "" "" "g.94008772T>C" "" "VUS" ""
"0000902954" "0" "50" "1" "94473846" "94473846" "subst" "0.0315833" "00000" "ABCA4_000001" "g.94473846G>A" "independent ARM (n=140): 0.052; all ARM (n=330): 0.038; control subjects (n=118): 0.054" "{PMID:Schmidt_2003:12824224}" "" "ABCA4 5843C>T, Pro1948Leu" "exonic polymorphism, Fisher\'s exact test (two-sided): independent ARM patients versus control: 1; Armitage trend test: all ARM patients versus controls: 0" "Unknown" "?" "" "0" "" "" "g.94008290G>A" "" "VUS" ""
"0000902955" "0" "50" "1" "94473845" "94473845" "subst" "0.172485" "00000" "ABCA4_000884" "g.94473845T>C" "independent ARM (n=140): 0.199; all ARM (n=330): 0.192; control subjects (n=118): 0.205" "{PMID:Schmidt_2003:12824224}" "" "ABCA4 5844A>G, Pro1948Pro(syn)" "exonic polymorphism, Fisher\'s exact test (two-sided): independent ARM patients versus control: 1; Armitage trend test: all ARM patients versus controls: 0." "Unknown" "?" "" "0" "" "" "g.94008289T>C" "" "VUS" ""
"0000902956" "0" "50" "1" "94471075" "94471075" "subst" "0.899539" "00000" "ABCA4_000880" "g.94471075A>G" "independent ARM (n=140): 0.04; all ARM (n=330): 0.05; control subjects (n=118): 0.044" "{PMID:Schmidt_2003:12824224}" "" "ABCA4 6069C>T, Ile2023Ile(syn)" "error in annotation, should be c.6069T>C; exonic polymorphism, Fisher\'s exact test (two-sided): independent ARM patients versus control: 1; Armitage trend test: all ARM patients versus controls: 0." "Unknown" "?" "" "0" "" "" "g.94005519A>G" "" "VUS" ""
"0000902957" "0" "50" "1" "94471065" "94471065" "subst" "0.000194997" "00000" "ABCA4_000384" "g.94471065G>A" "independent ARM (n=140): 0; all ARM (n=330): 0; control subjects (n=118): 0.009" "{PMID:Schmidt_2003:12824224}" "" "ABCA4 6079C>T, Leu2027Phe" "exonic polymorphism, Fisher\'s exact test (two-sided): independent ARM patients versus control: 0.48; Armitage trend test: all ARM patients versus controls: 0." "Unknown" "?" "" "0" "" "" "g.94005509G>A" "" "VUS" ""
"0000902958" "0" "50" "1" "94576968" "94576968" "subst" "0.519705" "00000" "ABCA4_000949" "g.94576968T>C" "independent ARM (n=140): 0.379; all ARM (n=330): 0.392; control subjects (n=118): 0.411" "{PMID:Schmidt_2003:12824224}" "" "ABCA4 302+26A>G" "intronic polymorphism, Fisher\'s exact test (two-sided): independent ARM patients versus control: 0.69; Armitage trend test: all ARM patients versus controls: 0." "Unknown" "?" "" "0" "" "" "g.94111412T>C" "" "VUS" ""
"0000902959" "0" "50" "1" "94544276" "94544276" "subst" "0.485644" "00000" "ABCA4_000940" "g.94544276G>A" "independent ARM (n=140): 0.298; all ARM (n=330): 0.267; control subjects (n=118): 0.25" "{PMID:Schmidt_2003:12824224}" "" "ABCA4 1240-14C>T" "intronic polymorphism, Fisher\'s exact test (two-sided): independent ARM patients versus control: 0.52; Armitage trend test: all ARM patients versus controls: 0" "Unknown" "?" "" "0" "" "" "g.94078720G>A" "" "VUS" ""
"0000902960" "0" "50" "1" "94544141" "94544141" "del" "0" "00000" "ABCA4_002517" "g.94544141del" "independent ARM (n=140): 0.302; all ARM (n=330): 0.277; control subjects (n=118): 0.372" "{PMID:Schmidt_2003:12824224}" "" "ABCA4 1356+5delG" "intronic polymorphism, Fisher\'s exact test (two-sided): independent ARM patients versus control: 0.47; Armitage trend test: all ARM patients versus controls: 0" "Unknown" "?" "" "0" "" "" "g.94078585del" "" "VUS" ""
"0000902961" "0" "50" "1" "94517157" "94517157" "subst" "0" "00000" "ABCA4_002518" "g.94517157A>T" "independent ARM (n=140): 0; all ARM (n=330): 0.003; control subjects (n=118): 0" "{PMID:Schmidt_2003:12824224}" "" "ABCA4 2653+32T>A" "intronic polymorphism, Fisher\'s exact test (two-sided): independent ARM patients versus control: NA; Armitage trend test: all ARM patients versus controls: 0." "Unknown" "?" "" "0" "" "" "g.94051601A>T" "" "VUS" ""
"0000902962" "0" "50" "1" "94517156" "94517156" "subst" "0" "00000" "ABCA4_002519" "g.94517156C>T" "independent ARM (n=140): 0; all ARM (n=330): 0.003; control subjects (n=118): 0" "{PMID:Schmidt_2003:12824224}" "" "ABCA4 2653+33G>A" "intronic polymorphism, Fisher\'s exact test (two-sided): independent ARM patients versus control: NA; Armitage trend test: all ARM patients versus controls: 0." "Unknown" "?" "" "0" "" "" "g.94051600C>T" "" "VUS" ""
"0000902963" "0" "50" "1" "94495191" "94495191" "subst" "0.000428195" "00000" "ABCA4_000910" "g.94495191A>G" "independent ARM (n=140): 0; all ARM (n=330): 0.003; control subjects (n=118): 0" "{PMID:Schmidt_2003:12824224}" "" "ABCA4 4353-4T>C" "intronic polymorphism, Fisher\'s exact test (two-sided): independent ARM patients versus control: NA; Armitage trend test: all ARM patients versus controls: 0." "Unknown" "?" "" "0" "" "" "g.94029635A>G" "" "VUS" ""
"0000902964" "0" "50" "1" "94473896" "94473896" "subst" "0.171813" "00000" "ABCA4_002515" "g.94473896G>T" "independent ARM (n=140): 0.169; all ARM (n=330): 0.16; control subjects (n=118): 0.196" "{PMID:Schmidt_2003:12824224}" "" "ABCA4 5836-43C>A" "intronic polymorphism, Fisher\'s exact test (two-sided): independent ARM patients versus control: 0.62; Armitage trend test: all ARM patients versus controls: 0." "Unknown" "?" "" "0" "" "" "g.94008340G>T" "" "VUS" ""
"0000902965" "0" "50" "1" "94473864" "94473864" "subst" "0.173865" "00000" "ABCA4_000885" "g.94473864C>T" "independent ARM (n=140): 0.169; all ARM (n=330): 0.16; control subjects (n=118): 0.188" "{PMID:Schmidt_2003:12824224}" "" "ABCA4 5836-11G>A" "intronic polymorphism, Fisher\'s exact test (two-sided): independent ARM patients versus control: 0.74; Armitage trend test: all ARM patients versus controls: 0." "Unknown" "?" "" "0" "" "" "g.94008308C>T" "" "VUS" ""
"0000902966" "0" "50" "1" "94471154" "94471154" "subst" "0.156733" "00000" "ABCA4_000881" "g.94471154C>T" "independent ARM (n=140): 0.176; all ARM (n=330): 0.164; control subjects (n=118): 0.167" "{PMID:Schmidt_2003:12824224}" "" "ABCA4 6006-16G>A" "intronic polymorphism, Fisher\'s exact test (two-sided): independent ARM patients versus control: 0.86; Armitage trend test: all ARM patients versus controls: 0." "Unknown" "?" "" "0" "" "" "g.94005598C>T" "" "VUS" ""
"0000902967" "0" "50" "1" "94458424" "94458424" "subst" "0" "00000" "ABCA4_002514" "g.94458424G>A" "independent ARM (n=140): 0.045; all ARM (n=330): 0.062; control subjects (n=118): 0.049" "{PMID:Schmidt_2003:12824224}" "" "ABCA4 6819+372A>G" "error in annotation, should be c.*369G>A; intronic polymorphism, Fisher\'s exact test (two-sided): independent ARM patients versus control: 1; Armitage trend test: all ARM patients versus controls: 0." "Unknown" "?" "" "0" "" "" "g.93992868G>A" "" "VUS" ""
"0000902972" "1" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "00006" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Huang 2022:36209838}" "" "" "" "Germline" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic" ""
"0000902973" "1" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "00006" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Huang 2022:36209838}" "" "" "" "Germline" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic" ""
"0000902974" "1" "90" "1" "94517254" "94517254" "subst" "0.00442654" "00006" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Huang 2022:36209838}" "" "c.[2588G>C;5603A>T]" "" "Germline" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic" ""
"0000902975" "1" "90" "1" "94517254" "94517254" "subst" "0.00442654" "00006" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Huang 2022:36209838}" "" "c.[2588G>C;5603A>T]" "" "Germline" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic" ""
"0000902976" "1" "90" "1" "94543304" "94543304" "subst" "0" "00006" "ABCA4_001476" "g.94543304C>T" "" "{PMID:Huang 2022:36209838}" "" "" "" "Germline" "" "" "0" "" "" "g.94077748C>T" "" "pathogenic" ""
"0000902977" "1" "90" "1" "94543304" "94543304" "subst" "0" "00006" "ABCA4_001476" "g.94543304C>T" "" "{PMID:Huang 2022:36209838}" "" "" "" "Germline" "" "" "0" "" "" "g.94077748C>T" "" "pathogenic" ""
"0000902978" "1" "90" "1" "94492973" "94492973" "subst" "0" "00006" "ABCA4_000030" "g.94492973G>A" "" "{PMID:Huang 2022:36209838}" "" "" "" "Germline" "" "" "0" "" "" "g.94027417G>A" "" "pathogenic" ""
"0000902979" "1" "30" "1" "94476467" "94476467" "subst" "0.0424562" "00006" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Huang 2022:36209838}" "" "" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "likely benign" ""
"0000902980" "1" "90" "1" "94492973" "94492973" "subst" "0" "00006" "ABCA4_000030" "g.94492973G>A" "" "{PMID:Huang 2022:36209838}" "" "" "" "Germline" "" "" "0" "" "" "g.94027417G>A" "" "pathogenic" ""
"0000902981" "1" "30" "1" "94568686" "94568686" "subst" "0.00258122" "00006" "ABCA4_000212" "g.94568686C>T" "" "{PMID:Huang 2022:36209838}" "" "c.[455G>A;2966T>C]" "" "Germline" "" "" "0" "" "" "g.94103130C>T" "" "likely benign" ""
"0000902982" "1" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "00006" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Huang 2022:36209838}" "" "" "" "Germline" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic" ""
"0000902983" "1" "90" "1" "94490567" "94490567" "subst" "5.68528E-5" "00006" "ABCA4_000026" "g.94490567G>A" "" "{PMID:Huang 2022:36209838}" "" "" "" "Germline" "" "" "0" "" "" "g.94025011G>A" "" "pathogenic" ""
"0000902984" "1" "90" "1" "94490567" "94490567" "subst" "5.68528E-5" "00006" "ABCA4_000026" "g.94490567G>A" "" "{PMID:Huang 2022:36209838}" "" "" "" "Germline" "" "" "0" "" "" "g.94025011G>A" "" "pathogenic" ""
"0000902985" "3" "90" "1" "94486895" "94486895" "subst" "3.24923E-5" "00006" "ABCA4_000484" "g.94486895C>T" "" "{PMID:Huang 2022:36209838}" "" "" "" "Germline" "" "" "0" "" "" "g.94021339C>T" "" "pathogenic" ""
"0000902986" "3" "90" "1" "94486895" "94486895" "subst" "3.24923E-5" "00006" "ABCA4_000484" "g.94486895C>T" "" "{PMID:Huang 2022:36209838}" "" "" "" "Germline" "" "" "0" "" "" "g.94021339C>T" "" "pathogenic" ""
"0000902987" "1" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "00006" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Huang 2022:36209838}" "" "" "" "Germline" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic" ""
"0000902988" "1" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "00006" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Huang 2022:36209838}" "" "" "" "Germline" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic" ""
"0000902989" "1" "90" "1" "94520690" "94520690" "subst" "2.03102E-5" "00006" "ABCA4_000149" "g.94520690C>T" "" "{PMID:Huang 2022:36209838}" "" "" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.94055134C>T" "" "pathogenic" ""
"0000902990" "1" "90" "1" "94520690" "94520690" "subst" "2.03102E-5" "00006" "ABCA4_000149" "g.94520690C>T" "" "{PMID:Huang 2022:36209838}" "" "" "" "Germline" "" "" "0" "" "" "g.94055134C>T" "" "pathogenic" ""
"0000902991" "1" "90" "1" "94520690" "94520690" "subst" "2.03102E-5" "00006" "ABCA4_000149" "g.94520690C>T" "" "{PMID:Huang 2022:36209838}" "" "" "" "Germline" "" "" "0" "" "" "g.94055134C>T" "" "pathogenic" ""
"0000902992" "1" "90" "1" "94577055" "94577056" "del" "0" "00006" "ABCA4_000229" "g.94577055_94577056del" "" "{PMID:Huang 2022:36209838}" "" "" "" "Germline" "" "" "0" "" "" "g.94111499_94111500del" "" "pathogenic" ""
"0000902993" "1" "90" "1" "94577055" "94577056" "del" "0" "00006" "ABCA4_000229" "g.94577055_94577056del" "" "{PMID:Huang 2022:36209838}" "" "" "" "Germline" "" "" "0" "" "" "g.94111499_94111500del" "" "pathogenic" ""
"0000902994" "1" "90" "1" "94496666" "94496666" "subst" "0.000219568" "00006" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Huang 2022:36209838}" "" "" "" "Germline" "" "" "0" "" "" "g.94031110G>A" "" "pathogenic" ""
"0000902995" "1" "90" "1" "94474306" "94474306" "subst" "0" "00006" "ABCA4_002522" "g.94474306C>T" "" "{PMID:Huang 2022:36209838}" "" "" "" "Germline" "" "" "0" "" "" "g.94008750C>T" "" "pathogenic" ""
"0000902996" "3" "90" "1" "94508323" "94508323" "subst" "0.000125953" "00006" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Huang 2022:36209838}" "" "" "" "Germline" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic" ""
"0000902997" "1" "90" "1" "94568642" "94568642" "subst" "0" "00006" "ABCA4_002530" "g.94568642G>T" "" "{PMID:Huang 2022:36209838}" "" "" "" "Germline" "" "" "0" "" "" "g.94103086G>T" "" "pathogenic" ""
"0000902998" "1" "90" "1" "94490567" "94490567" "subst" "5.68528E-5" "00006" "ABCA4_000026" "g.94490567G>A" "" "{PMID:Huang 2022:36209838}" "" "" "" "Germline" "" "" "0" "" "" "g.94025011G>A" "" "pathogenic" ""
"0000902999" "1" "90" "1" "94490567" "94490567" "subst" "5.68528E-5" "00006" "ABCA4_000026" "g.94490567G>A" "" "{PMID:Huang 2022:36209838}" "" "" "" "Germline" "" "" "0" "" "" "g.94025011G>A" "" "pathogenic" ""
"0000903000" "1" "90" "1" "94490567" "94490567" "subst" "5.68528E-5" "00006" "ABCA4_000026" "g.94490567G>A" "" "{PMID:Huang 2022:36209838}" "" "" "" "Germline" "" "" "0" "" "" "g.94025011G>A" "" "pathogenic" ""
"0000903001" "1" "90" "1" "94568625" "94568625" "del" "0" "00006" "ABCA4_000206" "g.94568625del" "" "{PMID:Huang 2022:36209838}" "" "" "" "Germline" "" "" "0" "" "" "g.94103069del" "" "pathogenic" ""
"0000903002" "1" "90" "1" "94496583" "94496583" "subst" "2.03092E-5" "00006" "ABCA4_000190" "g.94496583A>G" "" "{PMID:Huang 2022:36209838}" "" "c.[4222T>C;4918C>T]" "" "Germline" "" "" "0" "" "" "g.94031027A>G" "" "pathogenic" ""
"0000903003" "1" "90" "1" "94564484" "94564484" "subst" "0.000110199" "00006" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Huang 2022:36209838}" "" "" "" "Germline" "" "" "0" "" "" "g.94098928G>A" "" "pathogenic" ""
"0000903004" "1" "90" "1" "94517254" "94517254" "subst" "0.00442654" "00006" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Huang 2022:36209838}" "" "c.[2588G>C;5603A>T]" "" "Germline" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic" ""
"0000903005" "1" "30" "1" "94476467" "94476467" "subst" "0.0424562" "00006" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Huang 2022:36209838}" "" "c.[5603A>T;5177C>A]" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "likely benign" ""
"0000903006" "1" "90" "1" "94508973" "94508973" "subst" "0" "00006" "ABCA4_002528" "g.94508973C>A" "" "{PMID:Huang 2022:36209838}" "" "" "" "Germline" "" "" "0" "" "" "g.94043417C>A" "" "pathogenic" ""
"0000903007" "1" "90" "1" "94517216" "94517216" "subst" "0" "00006" "ABCA4_001429" "g.94517216G>A" "" "{PMID:Huang 2022:36209838}" "" "" "" "Germline" "" "" "0" "" "" "g.94051660G>A" "" "pathogenic" ""
"0000903008" "1" "90" "1" "94496666" "94496666" "subst" "0.000219568" "00006" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Huang 2022:36209838}" "" "" "" "Germline" "" "" "0" "" "" "g.94031110G>A" "" "pathogenic" ""
"0000903009" "1" "90" "1" "94526212" "94526212" "subst" "1.22012E-5" "00006" "ABCA4_000075" "g.94526212G>A" "" "{PMID:Huang 2022:36209838}" "" "" "" "Germline" "" "" "0" "" "" "g.94060656G>A" "" "pathogenic" ""
"0000903010" "1" "90" "1" "94520705" "94520705" "subst" "0" "00006" "ABCA4_000714" "g.94520705T>C" "" "{PMID:Huang 2022:36209838}" "" "c.[2549A>G;4667+5G>T; 5882G>A]" "" "Germline" "" "" "0" "" "" "g.94055149T>C" "" "pathogenic" ""
"0000903011" "1" "90" "1" "94548906" "94548906" "subst" "0" "00006" "ABCA4_000358" "g.94548906A>T" "" "{PMID:Huang 2022:36209838}" "" "" "" "Germline" "" "" "0" "" "" "g.94083350A>T" "" "pathogenic" ""
"0000903012" "1" "90" "1" "94526145" "94526145" "subst" "0" "00006" "ABCA4_002529" "g.94526145T>C" "" "{PMID:Huang 2022:36209838}" "" "" "" "Germline" "" "" "0" "" "" "g.94060589T>C" "" "pathogenic" ""
"0000903013" "1" "90" "1" "94481414" "94481414" "subst" "0" "00006" "ABCA4_002395" "g.94481414G>T" "" "{PMID:Huang 2022:36209838}" "" "" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.94015858G>T" "" "pathogenic" ""
"0000903014" "3" "50" "1" "94546299" "94546299" "subst" "0" "00006" "ABCA4_002405" "g.94546299T>C" "" "{PMID:Huang 2022:36209838}" "" "c.[859-25A>G;5955C>T]" "" "Germline" "" "" "0" "" "" "g.94080743T>C" "" "VUS" ""
"0000903015" "1" "90" "1" "94512478" "94512478" "subst" "3.65871E-5" "00006" "ABCA4_000678" "g.94512478G>T" "" "{PMID:Huang 2022:36209838}" "" "" "" "Germline" "" "" "0" "" "" "g.94046922G>T" "" "pathogenic" ""
"0000903016" "1" "90" "1" "94586557" "94586557" "subst" "4.06134E-6" "00006" "ABCA4_000259" "g.94586557C>T" "" "{PMID:Huang 2022:36209838}" "" "" "" "Germline" "" "" "0" "" "" "g.94121001C>T" "" "pathogenic" ""
"0000903017" "1" "90" "1" "94496583" "94496583" "subst" "2.03092E-5" "00006" "ABCA4_000190" "g.94496583A>G" "" "{PMID:Huang 2022:36209838}" "" "c.[4222T>C;4918C>T;768+538C>G]" "" "Germline" "" "" "0" "" "" "g.94031027A>G" "" "pathogenic" ""
"0000903018" "1" "90" "1" "94517254" "94517254" "subst" "0.00442654" "00006" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Huang 2022:36209838}" "" "" "" "Germline" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic" ""
"0000903019" "1" "90" "1" "94508892" "94508892" "subst" "0" "00006" "ABCA4_002527" "g.94508892C>T" "" "{PMID:Huang 2022:36209838}" "" "" "" "Germline" "" "" "0" "" "" "g.94043336C>T" "" "pathogenic" ""
"0000903020" "1" "90" "1" "94508892" "94508892" "subst" "0" "00006" "ABCA4_002527" "g.94508892C>T" "" "{PMID:Huang 2022:36209838}" "" "" "" "Germline" "" "" "0" "" "" "g.94043336C>T" "" "pathogenic" ""
"0000903021" "1" "90" "1" "94487505" "94487505" "subst" "4.06349E-6" "00006" "ABCA4_000507" "g.94487505T>C" "" "{PMID:Huang 2022:36209838}" "" "c.[4670A>G;6148G>C]" "" "Germline" "" "" "0" "" "" "g.94021949T>C" "" "pathogenic" ""
"0000903022" "1" "90" "1" "94476951" "94476951" "subst" "0.000236097" "00006" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Huang 2022:36209838}" "" "c.[5461-10T>C;5603A>T]" "" "Germline" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic" ""
"0000903023" "3" "90" "1" "94546283" "94546283" "subst" "8.18311E-5" "00006" "ABCA4_000356" "g.94546283A>G" "" "{PMID:Huang 2022:36209838}" "" "c.[859-9T>C;3893A>G]" "" "Germline" "" "" "0" "" "" "g.94080727A>G" "" "pathogenic" ""
"0000903024" "1" "90" "1" "94490567" "94490567" "subst" "5.68528E-5" "00006" "ABCA4_000026" "g.94490567G>A" "" "{PMID:Huang 2022:36209838}" "" "" "" "Germline" "" "" "0" "" "" "g.94025011G>A" "" "pathogenic" ""
"0000903025" "1" "90" "1" "94517254" "94517254" "subst" "0.00442654" "00006" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Huang 2022:36209838}" "" "c.[2588G>C;5603A>T]" "" "Germline" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic" ""
"0000903026" "1" "90" "1" "94528164" "94528164" "subst" "2.03336E-5" "00006" "ABCA4_000267" "g.94528164G>A" "" "{PMID:Huang 2022:36209838}" "" "" "" "Germline" "" "" "0" "" "" "g.94062608G>A" "" "pathogenic" ""
"0000903027" "1" "90" "1" "94544249" "94544249" "subst" "8.12196E-6" "00006" "ABCA4_000323" "g.94544249A>G" "" "{PMID:Huang 2022:36209838}" "" "" "" "Germline" "" "" "0" "" "" "g.94078693A>G" "" "pathogenic" ""
"0000903028" "1" "90" "1" "94526296" "94526296" "subst" "1.64555E-5" "00006" "ABCA4_000768" "g.94526296G>A" "" "{PMID:Huang 2022:36209838}" "" "" "" "Germline" "" "" "0" "" "" "g.94060740G>A" "" "pathogenic" ""
"0000903029" "1" "90" "1" "94496018" "94496018" "del" "0" "00006" "ABCA4_000551" "g.94496018del" "" "{PMID:Huang 2022:36209838}" "" "" "" "Germline" "" "" "0" "" "" "g.94030462del" "" "pathogenic" ""
"0000903030" "1" "90" "1" "94496018" "94496018" "del" "0" "00006" "ABCA4_000551" "g.94496018del" "" "{PMID:Huang 2022:36209838}" "" "" "" "Germline" "" "" "0" "" "" "g.94030462del" "" "pathogenic" ""
"0000903031" "1" "90" "1" "94528785" "94528785" "subst" "0" "00006" "ABCA4_001543" "g.94528785C>T" "" "{PMID:Huang 2022:36209838}" "" "" "" "Germline" "" "" "0" "" "" "g.94063229C>T" "" "pathogenic" ""
"0000903032" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "00006" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Huang 2022:36209838}" "" "" "" "Germline" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic" ""
"0000903033" "1" "90" "1" "94495071" "94495071" "subst" "6.39479E-5" "00006" "ABCA4_000997" "g.94495071C>T" "" "{PMID:Huang 2022:36209838}" "" "c.[4469G>A;5603A>T]" "" "Germline" "" "" "0" "" "" "g.94029515C>T" "" "pathogenic" ""
"0000903034" "1" "90" "1" "94476951" "94476951" "subst" "0.000236097" "00006" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Huang 2022:36209838}" "" "c.[5461-10T>C;5603A>T]" "" "Germline" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic" ""
"0000903035" "1" "30" "1" "94568686" "94568686" "subst" "0.00258122" "00006" "ABCA4_000212" "g.94568686C>T" "" "{PMID:Huang 2022:36209838}" "" "c.[455G>A;4163T>C]" "" "Germline" "" "" "0" "" "" "g.94103130C>T" "" "likely benign" ""
"0000903036" "1" "90" "1" "94476951" "94476951" "subst" "0.000236097" "00006" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Huang 2022:36209838}" "" "c.[5461-10T>C;5603A>T]" "" "Germline" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic" ""
"0000903037" "1" "90" "1" "94578618" "94578618" "subst" "0.000166918" "00006" "ABCA4_000252" "g.94578618C>T" "" "{PMID:Huang 2022:36209838}" "" "" "" "Germline" "" "" "0" "" "" "g.94113062C>T" "" "pathogenic" ""
"0000903038" "1" "90" "1" "94474466" "94474466" "subst" "0" "00006" "ABCA4_002523" "g.94474466C>T" "" "{PMID:Huang 2022:36209838}" "" "" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.94008910C>T" "" "pathogenic" ""
"0000903039" "2" "90" "1" "94471065" "94471065" "subst" "0.000194997" "00006" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Huang 2022:36209838}" "" "" "" "Germline" "" "" "0" "" "" "g.94005509G>A" "" "pathogenic" ""
"0000903040" "2" "90" "1" "94471065" "94471065" "subst" "0.000194997" "00006" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Huang 2022:36209838}" "" "" "" "Germline" "" "" "0" "" "" "g.94005509G>A" "" "pathogenic" ""
"0000903041" "2" "90" "1" "94476951" "94476951" "subst" "0.000236097" "00006" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Huang 2022:36209838}" "" "c.[5461-10T>C;5603A>T]" "" "Germline" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic" ""
"0000903042" "2" "90" "1" "94476951" "94476951" "subst" "0.000236097" "00006" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Huang 2022:36209838}" "" "c.[5461-10T>C;5603A>T]" "" "Germline" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic" ""
"0000903043" "2" "90" "1" "94502899" "94502899" "del" "0" "00006" "ABCA4_000920" "g.94502899del" "" "{PMID:Huang 2022:36209838}" "" "" "" "Germline" "" "" "0" "" "" "g.94037343del" "" "pathogenic" ""
"0000903044" "2" "90" "1" "94502899" "94502899" "del" "0" "00006" "ABCA4_000920" "g.94502899del" "" "{PMID:Huang 2022:36209838}" "" "" "" "Germline" "" "" "0" "" "" "g.94037343del" "" "pathogenic" ""
"0000903045" "2" "90" "1" "94471100" "94471113" "delins" "0" "00006" "ABCA4_001630" "g.94471100_94471113delinsAAATATTGGTTAAATACT" "" "{PMID:Huang 2022:36209838}" "" "" "" "Germline" "" "" "0" "" "" "g.94005544_94005557delinsAAATATTGGTTAAATACT" "" "pathogenic" ""
"0000903046" "2" "90" "1" "94471100" "94471113" "delins" "0" "00006" "ABCA4_001630" "g.94471100_94471113delinsAAATATTGGTTAAATACT" "" "{PMID:Huang 2022:36209838}" "" "" "" "Germline" "" "" "0" "" "" "g.94005544_94005557delinsAAATATTGGTTAAATACT" "" "pathogenic" ""
"0000903047" "2" "90" "1" "94471100" "94471113" "delins" "0" "00006" "ABCA4_001630" "g.94471100_94471113delinsAAATATTGGTTAAATACT" "" "{PMID:Huang 2022:36209838}" "" "" "" "Germline" "" "" "0" "" "" "g.94005544_94005557delinsAAATATTGGTTAAATACT" "" "pathogenic" ""
"0000903048" "2" "90" "1" "94471065" "94471065" "subst" "0.000194997" "00006" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Huang 2022:36209838}" "" "" "" "Germline" "" "" "0" "" "" "g.94005509G>A" "" "pathogenic" ""
"0000903049" "2" "90" "1" "94471065" "94471065" "subst" "0.000194997" "00006" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Huang 2022:36209838}" "" "" "" "Germline" "" "" "0" "" "" "g.94005509G>A" "" "pathogenic" ""
"0000903050" "2" "90" "1" "94471065" "94471065" "subst" "0.000194997" "00006" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Huang 2022:36209838}" "" "" "" "Germline" "" "" "0" "" "" "g.94005509G>A" "" "pathogenic" ""
"0000903051" "2" "90" "1" "94471065" "94471065" "subst" "0.000194997" "00006" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Huang 2022:36209838}" "" "" "" "Germline" "" "" "0" "" "" "g.94005509G>A" "" "pathogenic" ""
"0000903052" "2" "30" "1" "94476467" "94476467" "subst" "0.0424562" "00006" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Huang 2022:36209838}" "" "c.[5603A>T;5691G>T]" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "likely benign" ""
"0000903053" "2" "30" "1" "94476467" "94476467" "subst" "0.0424562" "00006" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Huang 2022:36209838}" "" "c.[5603A>T;5691G>T]" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "likely benign" ""
"0000903054" "2" "90" "1" "94508969" "94508969" "subst" "0.00168642" "00006" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Huang 2022:36209838}" "" "" "" "Germline" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic" ""
"0000903055" "2" "90" "1" "94508969" "94508969" "subst" "0.00168642" "00006" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Huang 2022:36209838}" "" "" "" "Germline" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic" ""
"0000903056" "2" "90" "1" "94476865" "94476865" "subst" "0" "00006" "ABCA4_002524" "g.94476865A>T" "" "{PMID:Huang 2022:36209838}" "" "" "" "Germline" "" "" "0" "" "" "g.94011309A>T" "" "pathogenic" ""
"0000903057" "2" "90" "1" "94476865" "94476865" "subst" "0" "00006" "ABCA4_002524" "g.94476865A>T" "" "{PMID:Huang 2022:36209838}" "" "" "" "Germline" "" "" "0" "" "" "g.94011309A>T" "" "pathogenic" ""
"0000903058" "2" "90" "1" "94476951" "94476951" "subst" "0.000236097" "00006" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Huang 2022:36209838}" "" "c.[5461-10T>C;5603A>T]" "" "Germline" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic" ""
"0000903059" "2" "90" "1" "94471065" "94471065" "subst" "0.000194997" "00006" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Huang 2022:36209838}" "" "" "" "Germline" "" "" "0" "" "" "g.94005509G>A" "" "pathogenic" ""
"0000903060" "2" "90" "1" "94467475" "94467475" "subst" "1.62463E-5" "00006" "ABCA4_001599" "g.94467475C>T" "" "{PMID:Huang 2022:36209838}" "" "" "" "Germline" "" "" "0" "" "" "g.94001919C>T" "" "pathogenic" ""
"0000903061" "2" "90" "1" "94471065" "94471065" "subst" "0.000194997" "00006" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Huang 2022:36209838}" "" "" "" "Germline" "" "" "0" "" "" "g.94005509G>A" "" "pathogenic" ""
"0000903062" "2" "90" "1" "94471065" "94471065" "subst" "0.000194997" "00006" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Huang 2022:36209838}" "" "" "" "Germline" "" "" "0" "" "" "g.94005509G>A" "" "pathogenic" ""
"0000903063" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "00006" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Huang 2022:36209838}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic" ""
"0000903064" "2" "90" "1" "94564531" "94564531" "subst" "8.3561E-6" "00006" "ABCA4_000986" "g.94564531G>A" "" "{PMID:Huang 2022:36209838}" "" "" "" "Germline" "" "" "0" "" "" "g.94098975G>A" "" "pathogenic" ""
"0000903065" "2" "30" "1" "94476467" "94476467" "subst" "0.0424562" "00006" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Huang 2022:36209838}" "" "" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "likely benign" ""
"0000903066" "2" "90" "1" "94471065" "94471065" "subst" "0.000194997" "00006" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Huang 2022:36209838}" "" "" "" "Germline" "" "" "0" "" "" "g.94005509G>A" "" "pathogenic" ""
"0000903067" "2" "90" "1" "94508323" "94508323" "subst" "0.000125953" "00006" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Huang 2022:36209838}" "" "" "" "Germline" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic" ""
"0000903068" "2" "30" "1" "94496509" "94496509" "subst" "0.00475243" "00006" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Huang 2022:36209838}" "" "c.[4253+43G>A;5836-145C>A]" "" "Germline" "" "" "0" "" "" "g.94030953C>T" "" "likely benign" ""
"0000903069" "2" "90" "1" "94474381" "94474381" "subst" "1.21849E-5" "00006" "ABCA4_000410" "g.94474381C>T" "" "{PMID:Huang 2022:36209838}" "" "" "" "Germline" "" "" "0" "" "" "g.94008825C>T" "" "pathogenic" ""
"0000903070" "2" "90" "1" "94476351" "94476351" "subst" "0.000296608" "00006" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Huang 2022:36209838}" "" "" "" "Germline" "" "" "0" "" "" "g.94010795C>T" "" "pathogenic" ""
"0000903071" "2" "30" "1" "94476467" "94476467" "subst" "0.0424562" "00006" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Huang 2022:36209838}" "" "" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "likely benign" ""
"0000903072" "2" "90" "1" "94520678" "94520678" "subst" "8.9367E-5" "00006" "ABCA4_002014" "g.94520678T>C" "" "{PMID:Huang 2022:36209838}" "" "" "" "Germline" "" "" "0" "" "" "g.94055122T>C" "" "pathogenic" ""
"0000903073" "2" "30" "1" "94476467" "94476467" "subst" "0.0424562" "00006" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Huang 2022:36209838}" "" "" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "likely benign" ""
"0000903074" "2" "90" "1" "94497334" "94497334" "subst" "0" "00006" "ABCA4_001076" "g.94497334C>G" "" "{PMID:Huang 2022:36209838}" "" "" "" "Germline" "" "" "0" "" "" "g.94031778C>G" "" "pathogenic" ""
"0000903075" "2" "90" "1" "94495071" "94495071" "subst" "6.39479E-5" "00006" "ABCA4_000997" "g.94495071C>T" "" "{PMID:Huang 2022:36209838}" "" "c.[4469G>A;5603A>T]" "" "Germline" "" "" "0" "" "" "g.94029515C>T" "" "pathogenic" ""
"0000903076" "2" "90" "1" "94510178" "94510178" "subst" "0" "00006" "ABCA4_000664" "g.94510178A>C" "" "{PMID:Huang 2022:36209838}" "" "" "" "Germline" "" "" "0" "" "" "g.94044622A>C" "" "pathogenic" ""
"0000903077" "2" "90" "1" "94528806" "94528806" "subst" "0.000150298" "00006" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Huang 2022:36209838}" "" "c.[1622T>C;3113C>T]" "" "Germline" "" "" "0" "" "" "g.94063250A>G" "" "pathogenic" ""
"0000903078" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "00006" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Huang 2022:36209838}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic" ""
"0000903079" "2" "90" "1" "94512566" "94512566" "subst" "7.31149E-5" "00006" "ABCA4_000693" "g.94512566G>A" "" "{PMID:Huang 2022:36209838}" "" "c.[2827C>T;5603A>T]" "" "Germline" "" "" "0" "" "" "g.94047010G>A" "" "pathogenic" ""
"0000903080" "2" "90" "1" "94508386" "94508386" "subst" "1.62443E-5" "00006" "ABCA4_000642" "g.94508386C>T" "" "{PMID:Huang 2022:36209838}" "" "" "" "Germline" "" "" "0" "" "" "g.94042830C>T" "" "pathogenic" ""
"0000903081" "2" "90" "1" "94508386" "94508386" "subst" "1.62443E-5" "00006" "ABCA4_000642" "g.94508386C>T" "" "{PMID:Huang 2022:36209838}" "" "" "" "Germline" "" "" "0" "" "" "g.94042830C>T" "" "pathogenic" ""
"0000903082" "2" "90" "1" "94508408" "94508408" "subst" "0" "00006" "ABCA4_002526" "g.94508408A>G" "" "{PMID:Huang 2022:36209838}" "" "c.[3237T>C;5603A>T]" "" "Germline" "" "" "0" "" "" "g.94042852A>G" "" "pathogenic" ""
"0000903083" "2" "90" "1" "94476351" "94476351" "subst" "0.000296608" "00006" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Huang 2022:36209838}" "" "" "" "Germline" "" "" "0" "" "" "g.94010795C>T" "" "pathogenic" ""
"0000903084" "2" "30" "1" "94476467" "94476467" "subst" "0.0424562" "00006" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Huang 2022:36209838}" "" "" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "likely benign" ""
"0000903085" "2" "90" "1" "94490567" "94490567" "subst" "5.68528E-5" "00006" "ABCA4_000026" "g.94490567G>A" "" "{PMID:Huang 2022:36209838}" "" "" "" "Germline" "" "" "0" "" "" "g.94025011G>A" "" "pathogenic" ""
"0000903086" "2" "90" "1" "94517254" "94517254" "subst" "0.00442654" "00006" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Huang 2022:36209838}" "" "c.[2588G>C;5603A>T]" "" "Germline" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic" ""
"0000903087" "2" "90" "1" "94487399" "94487399" "subst" "7.30959E-5" "00006" "ABCA4_000038" "g.94487399T>C" "" "{PMID:Huang 2022:36209838}" "" "" "" "Germline" "" "" "0" "" "" "g.94021843T>C" "" "pathogenic" ""
"0000903088" "2" "90" "1" "94471055" "94471055" "subst" "0.00035346" "00006" "ABCA4_000029" "g.94471055C>T" "" "{PMID:Huang 2022:36209838}" "" "" "" "Germline" "" "" "0" "" "" "g.94005499C>T" "" "pathogenic" ""
"0000903089" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "00006" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Huang 2022:36209838}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic" ""
"0000903090" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "00006" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Huang 2022:36209838}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic" ""
"0000903091" "2" "30" "1" "94476467" "94476467" "subst" "0.0424562" "00006" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Huang 2022:36209838}" "" "" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "likely benign" ""
"0000903092" "2" "30" "1" "94502906" "94502906" "subst" "0.000314086" "00006" "ABCA4_000605" "g.94502906C>T" "" "{PMID:Huang 2022:36209838}" "" "c.[3608G>A;4537dup]" "" "Germline" "" "" "0" "" "" "g.94037350C>T" "" "likely benign" ""
"0000903093" "2" "90" "1" "94471065" "94471065" "subst" "0.000194997" "00006" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Huang 2022:36209838}" "" "" "" "Germline" "" "" "0" "" "" "g.94005509G>A" "" "pathogenic" ""
"0000903094" "2" "90" "1" "94471067" "94471067" "subst" "4.06237E-6" "00006" "ABCA4_001001" "g.94471067A>G" "" "{PMID:Huang 2022:36209838}" "" "" "" "Germline" "" "" "0" "" "" "g.94005511A>G" "" "pathogenic" ""
"0000903095" "2" "90" "1" "94476951" "94476951" "subst" "0.000236097" "00006" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Huang 2022:36209838}" "" "c.[5461-10T>C;5603A>T]" "" "Germline" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic" ""
"0000903096" "2" "90" "1" "94471065" "94471065" "subst" "0.000194997" "00006" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Huang 2022:36209838}" "" "" "" "Germline" "" "" "0" "" "" "g.94005509G>A" "" "pathogenic" ""
"0000903097" "2" "90" "1" "94467487" "94467492" "delins" "0" "00006" "ABCA4_002520" "g.94467487_94467492delinsT" "" "{PMID:Huang 2022:36209838}" "" "" "" "Germline" "" "" "0" "" "" "g.94001931_94001936delinsT" "" "pathogenic" ""
"0000903098" "3" "30" "1" "94476467" "94476467" "subst" "0.0424562" "00006" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Huang 2022:36209838}" "" "c.[2588G>C;5603A>T]" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "likely benign" ""
"0000903099" "2" "30" "1" "94476467" "94476467" "subst" "0.0424562" "00006" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Huang 2022:36209838}" "" "c.[5461-10T>C;5603A>T]" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "likely benign" ""
"0000903100" "1" "30" "1" "94476467" "94476467" "subst" "0.0424562" "00006" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Huang 2022:36209838}" "" "c.[2588G>C;5603A>T]" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "likely benign" ""
"0000903101" "2" "30" "1" "94476467" "94476467" "subst" "0.0424562" "00006" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Huang 2022:36209838}" "" "c.[5461-10T>C;5603A>T]" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "likely benign" ""
"0000903102" "1" "90" "1" "94510253" "94510253" "subst" "0.000247694" "00006" "ABCA4_000108" "g.94510253A>G" "" "{PMID:Huang 2022:36209838}" "" "c.[455G>A;2966T>C]" "" "Germline" "" "" "0" "" "" "g.94044697A>G" "" "pathogenic" ""
"0000903103" "2" "50" "1" "94476379" "94476379" "subst" "0" "00006" "ABCA4_002303" "g.94476379C>A" "" "{PMID:Huang 2022:36209838}" "" "c.[5603A>T;5691G>T]" "" "Germline" "" "" "0" "" "" "g.94010823C>A" "" "VUS" ""
"0000903104" "2" "50" "1" "94476379" "94476379" "subst" "0" "00006" "ABCA4_002303" "g.94476379C>A" "" "{PMID:Huang 2022:36209838}" "" "c.[5603A>T;5691G>T]" "" "Germline" "" "" "0" "" "" "g.94010823C>A" "" "VUS" ""
"0000903105" "2" "30" "1" "94476467" "94476467" "subst" "0.0424562" "00006" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Huang 2022:36209838}" "" "c.[5461-10T>C;5603A>T]" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "likely benign" ""
"0000903106" "1" "90" "1" "94486896" "94486896" "subst" "3.65562E-5" "00006" "ABCA4_000085" "g.94486896G>A" "" "{PMID:Huang 2022:36209838}" "" "c.[4222T>C;4918C>T]" "" "Germline" "" "" "0" "" "" "g.94021340G>A" "" "pathogenic" ""
"0000903107" "1" "30" "1" "94476467" "94476467" "subst" "0.0424562" "00006" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Huang 2022:36209838}" "" "c.[2588G>C;5603A>T]" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "likely benign" ""
"0000903108" "1" "90" "1" "94485157" "94485157" "subst" "0" "00006" "ABCA4_000466" "g.94485157G>T" "" "{PMID:Huang 2022:36209838}" "" "c.[5603A>T;5177C>A]" "" "Germline" "" "" "0" "" "" "g.94019601G>T" "" "pathogenic" ""
"0000903109" "2" "30" "1" "94473998" "94473998" "subst" "0" "00006" "ABCA4_002521" "g.94473998G>T" "" "{PMID:Huang 2022:36209838}" "" "c.[4253+43G>A;5836-145C>A]" "" "Germline" "" "" "0" "" "" "g.94008442G>T" "" "likely benign" ""
"0000903110" "1" "90" "1" "94488937" "94488937" "subst" "0" "00006" "ABCA4_002394" "g.94488937C>A" "" "{PMID:Huang 2022:36209838}" "" "c.[2549A>G;4667+5G>T; 5882G>A]" "" "Germline" "" "" "0" "" "" "g.94023381C>A" "" "pathogenic" ""
"0000903111" "1" "90" "1" "94473807" "94473807" "subst" "0.00480453" "00006" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Huang 2022:36209838}" "" "c.[2549A>G;4667+5G>T; 5882G>A]" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic" ""
"0000903112" "2" "30" "1" "94476467" "94476467" "subst" "0.0424562" "00006" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Huang 2022:36209838}" "" "c.[4469G>A;5603A>T]" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "likely benign" ""
"0000903113" "3" "30" "1" "94473240" "94473240" "subst" "0" "00006" "ABCA4_001635" "g.94473240G>A" "" "{PMID:Huang 2022:36209838}" "" "c.[859-25A>G;5955C>T]" "" "Germline" "" "" "0" "" "" "g.94007684G>A" "" "likely benign" ""
"0000903114" "2" "90" "1" "94508969" "94508969" "subst" "0.00168642" "00006" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Huang 2022:36209838}" "" "c.[1622T>C;3113C>T]" "" "Germline" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic" ""
"0000903115" "1" "90" "1" "94486896" "94486896" "subst" "3.65562E-5" "00006" "ABCA4_000085" "g.94486896G>A" "" "{PMID:Huang 2022:36209838}" "" "c.[4222T>C;4918C>T;768+538C>G]" "" "Germline" "" "" "0" "" "" "g.94021340G>A" "" "pathogenic" ""
"0000903116" "1" "30" "1" "94563812" "94563812" "subst" "0" "00006" "ABCA4_002167" "g.94563812G>C" "" "{PMID:Huang 2022:36209838}" "" "c.[4222T>C;4918C>T;768+538C>G]" "" "Germline" "" "" "0" "" "" "g.94098256G>C" "" "likely benign" ""
"0000903117" "2" "30" "1" "94476467" "94476467" "subst" "0.0424562" "00006" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Huang 2022:36209838}" "" "c.[2827C>T;5603A>T]" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "likely benign" ""
"0000903118" "1" "30" "1" "94467548" "94467548" "subst" "0.00295661" "00006" "ABCA4_000788" "g.94467548C>G" "" "{PMID:Huang 2022:36209838}" "" "c.[4670A>G;6148G>C]" "" "Germline" "" "" "0" "" "" "g.94001992C>G" "" "likely benign" ""
"0000903119" "2" "30" "1" "94476467" "94476467" "subst" "0.0424562" "00006" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Huang 2022:36209838}" "" "c.[3237T>C;5603A>T]" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "likely benign" ""
"0000903120" "1" "30" "1" "94476467" "94476467" "subst" "0.0424562" "00006" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Huang 2022:36209838}" "" "c.[5461-10T>C;5603A>T]" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "likely benign" ""
"0000903121" "3" "30" "1" "94497569" "94497569" "subst" "0" "00006" "ABCA4_002525" "g.94497569T>C" "" "{PMID:Huang 2022:36209838}" "" "c.[859-9T>C;3893A>G]" "" "Germline" "" "" "0" "" "" "g.94032013T>C" "" "likely benign" ""
"0000903122" "1" "30" "1" "94476467" "94476467" "subst" "0.0424562" "00006" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Huang 2022:36209838}" "" "c.[2588G>C;5603A>T]" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "likely benign" ""
"0000903123" "2" "30" "1" "94476467" "94476467" "subst" "0.0424562" "00006" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Huang 2022:36209838}" "" "c.[2588G>C;5603A>T]" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "likely benign" ""
"0000903124" "2" "90" "1" "94495009" "94495009" "dup" "0" "00006" "ABCA4_000087" "g.94495009dup" "" "{PMID:Huang 2022:36209838}" "" "c.[3608G>A;4537dup]" "" "Germline" "" "" "0" "" "" "g.94029453dup" "" "pathogenic" ""
"0000903125" "1" "30" "1" "94476467" "94476467" "subst" "0.0424562" "00006" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Huang 2022:36209838}" "" "c.[4469G>A;5603A>T]" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "likely benign" ""
"0000903126" "1" "30" "1" "94476467" "94476467" "subst" "0.0424562" "00006" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Huang 2022:36209838}" "" "c.[5461-10T>C;5603A>T]" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "likely benign" ""
"0000903127" "1" "30" "1" "94496642" "94496642" "subst" "4.06398E-6" "00006" "ABCA4_000168" "g.94496642A>G" "" "{PMID:Huang 2022:36209838}" "" "c.[455G>A;4163T>C]" "" "Germline" "" "" "0" "" "" "g.94031086A>G" "" "likely benign" ""
"0000903128" "2" "30" "1" "94476467" "94476467" "subst" "0.0424562" "00006" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Huang 2022:36209838}" "" "c.[5461-10T>C;5603A>T]" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "likely benign" ""
"0000903129" "1" "30" "1" "94476467" "94476467" "subst" "0.0424562" "00006" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Huang 2022:36209838}" "" "c.[5461-10T>C;5603A>T]" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "likely benign" ""
"0000903140" "0" "30" "1" "94512565" "94512565" "subst" "0.030364" "00000" "ABCA4_000002" "g.94512565C>T" "" "{PMID:Shastry 2008:18506364}" "" "ABCA4 R943Q, 2828G->A" "heterozygous, no second allele found" "Unknown" "no" "" "0" "" "" "g.94047009C>T" "" "likely benign" ""
"0000903141" "0" "30" "1" "94512565" "94512565" "subst" "0.030364" "00000" "ABCA4_000002" "g.94512565C>T" "" "{PMID:Shastry 2008:18506364}" "" "ABCA4 R943Q, 2828G->A" "heterozygous, no second allele found" "Unknown" "?" "" "0" "" "" "g.94047009C>T" "" "likely benign" ""
"0000903142" "0" "30" "1" "94512565" "94512565" "subst" "0.030364" "00000" "ABCA4_000002" "g.94512565C>T" "" "{PMID:Shastry 2008:18506364}" "" "ABCA4 R943Q, 2828G->A" "heterozygous, no second allele found" "Unknown" "?" "" "0" "" "" "g.94047009C>T" "" "likely benign" ""
"0000903143" "0" "70" "1" "94508386" "94508386" "subst" "1.62443E-5" "00000" "ABCA4_000642" "g.94508386C>T" "" "{PMID:Cohen 2013:23883535}" "" "ABCA4 - Glu1087Lys GAA > AAA - EPP = 3" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94042830C>T" "" "likely pathogenic" ""
"0000903144" "0" "70" "1" "94471065" "94471065" "subst" "0.000194997" "00000" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Cohen 2013:23883535}" "" "ABCA4 - Leu2027Phe CTC > TTC - EPP = 3" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94005509G>A" "" "likely pathogenic" ""
"0000903145" "0" "50" "1" "94476424" "94476424" "subst" "2.43694E-5" "00000" "ABCA4_000418" "g.94476424C>T" "" "{PMID:Wu 2015:26261643}" "" "ABCA4 5646G>A" "genotype AA and allele A in 5646G>A polymorphism and smoking significantly increased the risk of AMD (OR=4.753, 95% CI=1.249-18.085; OR=1.944, 95% CI=1.209-3.126)" "Unknown" "?" "" "0" "" "" "g.94010868C>T" "" "benign (!)" ""
"0000903146" "0" "50" "1" "94517209" "94517209" "subst" "0" "00000" "ABCA4_002000" "g.94517209G>T" "" "{PMID:Wu 2015:26261643}" "" "ABCA4 2633C>A" "no obvious correlation with AMD risk, but with smoking there was one" "Unknown" "?" "" "0" "" "" "g.94051653G>T" "" "benign (!)" ""
"0000903147" "0" "50" "1" "94466482" "94466482" "subst" "0" "00000" "ABCA4_000829" "g.94466482A>T" "" "{PMID:Wu 2015:26261643}" "" "ABCA4 6389T>A" "AA genotype had no significant correlation with AMD risk, but the A allele distinctly enhanced the AMD risk (OR=1.681, 95% CI=1.071-2.639), and with smoking there also was increased risk" "Unknown" "?" "" "0" "" "" "g.94000926A>T" "" "benign (!)" ""
"0000903166" "1" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sheremet 2019:31573552}" "" "ABCA4 p.G1961E" "heterozygous; no nucleotide annotation, extrapolated from protein, sequence and databases" "Unknown" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000903167" "1" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sheremet 2019:31573552}" "" "ABCA4 p.G1961E" "heterozygous; no nucleotide annotation, extrapolated from protein, sequence and databases" "Unknown" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000903168" "1" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sheremet 2019:31573552}" "" "ABCA4 p.G1961E" "heterozygous; no nucleotide annotation, extrapolated from protein, sequence and databases" "Unknown" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000903169" "1" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sheremet 2019:31573552}" "" "ABCA4 p.G1961E" "heterozygous; no nucleotide annotation, extrapolated from protein, sequence and databases" "Unknown" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000903170" "1" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sheremet 2019:31573552}" "" "ABCA4 p.G1961E" "heterozygous; no nucleotide annotation, extrapolated from protein, sequence and databases" "Unknown" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000903171" "1" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sheremet 2019:31573552}" "" "ABCA4 p.G1961E" "heterozygous; no nucleotide annotation, extrapolated from protein, sequence and databases" "Unknown" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000903172" "1" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sheremet 2019:31573552}" "" "ABCA4 p.G1961E" "heterozygous; no nucleotide annotation, extrapolated from protein, sequence and databases" "Unknown" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000903173" "1" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sheremet 2019:31573552}" "" "ABCA4 p.G1961E" "heterozygous; no nucleotide annotation, extrapolated from protein, sequence and databases" "Unknown" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000903174" "1" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sheremet 2019:31573552}" "" "ABCA4 p.G1961E" "heterozygous; no nucleotide annotation, extrapolated from protein, sequence and databases" "Unknown" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000903175" "1" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sheremet 2019:31573552}" "" "ABCA4 p.G1961E" "heterozygous; no nucleotide annotation, extrapolated from protein, sequence and databases" "Unknown" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000903176" "1" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sheremet 2019:31573552}" "" "ABCA4 p.G1961E" "heterozygous; no nucleotide annotation, extrapolated from protein, sequence and databases" "Unknown" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000903177" "1" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sheremet 2019:31573552}" "" "ABCA4 p.G1961E" "heterozygous; no nucleotide annotation, extrapolated from protein, sequence and databases" "Unknown" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000903178" "1" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sheremet 2019:31573552}" "" "ABCA4 p.G1961E" "heterozygous; no nucleotide annotation, extrapolated from protein, sequence and databases" "Unknown" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000903179" "1" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sheremet 2019:31573552}" "" "ABCA4 p.G1961E" "heterozygous; no nucleotide annotation, extrapolated from protein, sequence and databases" "Unknown" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000903180" "1" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sheremet 2019:31573552}" "" "ABCA4 p.G1961E" "heterozygous; no nucleotide annotation, extrapolated from protein, sequence and databases" "Unknown" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000903181" "1" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sheremet 2019:31573552}" "" "ABCA4 p.G1961E" "heterozygous; no nucleotide annotation, extrapolated from protein, sequence and databases" "Unknown" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000903182" "1" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sheremet 2019:31573552}" "" "ABCA4 p.G1961E" "heterozygous; no nucleotide annotation, extrapolated from protein, sequence and databases" "Unknown" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000903183" "1" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sheremet 2019:31573552}" "" "ABCA4 p.G1961E" "heterozygous; no nucleotide annotation, extrapolated from protein, sequence and databases" "Unknown" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000903184" "3" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sheremet 2019:31573552}" "" "ABCA4 p.G1961E" "heterozygous; no nucleotide annotation, extrapolated from protein, sequence and databases" "Unknown" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000903185" "3" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sheremet 2019:31573552}" "" "ABCA4 p.[L541P;A1038V]" "heterozygous; no nucleotide annotation, extrapolated from protein, sequence and databases" "Unknown" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000903186" "2" "70" "1" "94528806" "94528806" "subst" "0.000150298" "00000" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Sheremet 2019:31573552}" "" "ABCA4 p.[L541P;A1038V]" "complex allele; heterozygous; no nucleotide annotation, extrapolated from protein, sequence and databases" "Unknown" "?" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000903187" "2" "70" "1" "94508969" "94508969" "subst" "0.00168642" "00000" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Sheremet 2019:31573552}" "" "ABCA4 p.[L541P;A1038V]" "complex allele; heterozygous; no nucleotide annotation, extrapolated from protein, sequence and databases" "Unknown" "?" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic (recessive)" ""
"0000903188" "2" "70" "1" "94528806" "94528806" "subst" "0.000150298" "00000" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Sheremet 2019:31573552}" "" "ABCA4 p.[L541P;A1038V]" "complex allele; heterozygous; no nucleotide annotation, extrapolated from protein, sequence and databases" "Unknown" "?" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000903189" "2" "70" "1" "94508969" "94508969" "subst" "0.00168642" "00000" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Sheremet 2019:31573552}" "" "ABCA4 p.[L541P;A1038V]" "complex allele; heterozygous; no nucleotide annotation, extrapolated from protein, sequence and databases" "Unknown" "?" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic (recessive)" ""
"0000903190" "2" "70" "1" "94528806" "94528806" "subst" "0.000150298" "00000" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Sheremet 2019:31573552}" "" "ABCA4 p.[L541P;A1038V]" "complex allele; heterozygous; no nucleotide annotation, extrapolated from protein, sequence and databases" "Unknown" "?" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000903191" "2" "70" "1" "94508969" "94508969" "subst" "0.00168642" "00000" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Sheremet 2019:31573552}" "" "ABCA4 p.[L541P;A1038V]" "complex allele; heterozygous; no nucleotide annotation, extrapolated from protein, sequence and databases" "Unknown" "?" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic (recessive)" ""
"0000903192" "2" "70" "1" "94528806" "94528806" "subst" "0.000150298" "00000" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Sheremet 2019:31573552}" "" "ABCA4 p.[L541P;A1038V]" "complex allele; heterozygous; no nucleotide annotation, extrapolated from protein, sequence and databases" "Unknown" "?" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000903193" "2" "70" "1" "94508969" "94508969" "subst" "0.00168642" "00000" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Sheremet 2019:31573552}" "" "ABCA4 p.[L541P;A1038V]" "complex allele; heterozygous; no nucleotide annotation, extrapolated from protein, sequence and databases" "Unknown" "?" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic (recessive)" ""
"0000903194" "2" "70" "1" "94528806" "94528806" "subst" "0.000150298" "00000" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Sheremet 2019:31573552}" "" "ABCA4 p.[L541P;A1038V]" "complex allele; heterozygous; no nucleotide annotation, extrapolated from protein, sequence and databases" "Unknown" "?" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000903195" "2" "70" "1" "94508969" "94508969" "subst" "0.00168642" "00000" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Sheremet 2019:31573552}" "" "ABCA4 p.[L541P;A1038V]" "complex allele; heterozygous; no nucleotide annotation, extrapolated from protein, sequence and databases" "Unknown" "?" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic (recessive)" ""
"0000903196" "2" "70" "1" "94528806" "94528806" "subst" "0.000150298" "00000" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Sheremet 2019:31573552}" "" "ABCA4 p.[L541P;A1038V]" "complex allele; heterozygous; no nucleotide annotation, extrapolated from protein, sequence and databases" "Unknown" "?" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000903197" "2" "70" "1" "94508969" "94508969" "subst" "0.00168642" "00000" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Sheremet 2019:31573552}" "" "ABCA4 p.[L541P;A1038V]" "complex allele; heterozygous; no nucleotide annotation, extrapolated from protein, sequence and databases" "Unknown" "?" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic (recessive)" ""
"0000903198" "2" "70" "1" "94528806" "94528806" "subst" "0.000150298" "00000" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Sheremet 2019:31573552}" "" "ABCA4 p.[L541P;A1038V]" "complex allele; heterozygous; no nucleotide annotation, extrapolated from protein, sequence and databases" "Unknown" "?" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000903199" "2" "70" "1" "94508969" "94508969" "subst" "0.00168642" "00000" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Sheremet 2019:31573552}" "" "ABCA4 p.[L541P;A1038V]" "complex allele; heterozygous; no nucleotide annotation, extrapolated from protein, sequence and databases" "Unknown" "?" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic (recessive)" ""
"0000903200" "2" "70" "1" "94528806" "94528806" "subst" "0.000150298" "00000" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Sheremet 2019:31573552}" "" "ABCA4 p.[L541P;A1038V]" "complex allele; heterozygous; no nucleotide annotation, extrapolated from protein, sequence and databases" "Unknown" "?" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000903201" "2" "70" "1" "94508969" "94508969" "subst" "0.00168642" "00000" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Sheremet 2019:31573552}" "" "ABCA4 p.N1805D" "complex allele; heterozygous; no nucleotide annotation, extrapolated from protein, sequence and databases" "Unknown" "?" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic (recessive)" ""
"0000903202" "2" "70" "1" "94480146" "94480146" "subst" "2.84273E-5" "00000" "ABCA4_000122" "g.94480146T>C" "" "{PMID:Sheremet 2019:31573552}" "" "ABCA4 p.R1640W" "heterozygous; no nucleotide annotation, extrapolated from protein, sequence and databases" "Unknown" "?" "" "0" "" "" "g.94014590T>C" "" "likely pathogenic (recessive)" ""
"0000903203" "2" "70" "1" "94486896" "94486896" "subst" "3.65562E-5" "00000" "ABCA4_000085" "g.94486896G>A" "" "{PMID:Sheremet 2019:31573552}" "" "ABCA4 p.P1088T" "heterozygous; no nucleotide annotation, extrapolated from protein, sequence and databases" "Unknown" "?" "" "0" "" "" "g.94021340G>A" "" "likely pathogenic (recessive)" ""
"0000903204" "2" "70" "1" "94508383" "94508383" "subst" "0" "00000" "ABCA4_001299" "g.94508383G>T" "" "{PMID:Sheremet 2019:31573552}" "" "ABCA4 p.L541P" "heterozygous; no nucleotide annotation, extrapolated from protein, sequence and databases" "Unknown" "?" "" "0" "" "" "g.94042827G>T" "" "likely pathogenic (recessive)" ""
"0000903205" "2" "70" "1" "94528806" "94528806" "subst" "0.000150298" "00000" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Sheremet 2019:31573552}" "" "ABCA4 p.[L541P;A1038V]" "complex allele; heterozygous; no nucleotide annotation, extrapolated from protein, sequence and databases" "Unknown" "?" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic (recessive)" ""
"0000903206" "2" "70" "1" "94486895" "94486895" "subst" "3.24923E-5" "00000" "ABCA4_000484" "g.94486895C>T" "" "{PMID:Sheremet 2019:31573552}" "" "ABCA4 R1640Q" "heterozygous; no nucleotide annotation, extrapolated from protein, sequence and databases" "Unknown" "?" "" "0" "" "" "g.94021339C>T" "" "likely pathogenic (recessive)" ""
"0000903207" "2" "70" "1" "94496666" "94496666" "subst" "0.000219568" "00000" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Sheremet 2019:31573552}" "" "ABCA4 P1380L" "heterozygous; no nucleotide annotation, extrapolated from protein, sequence and databases" "Unknown" "?" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic (recessive)" ""
"0000903208" "2" "70" "1" "94548998" "94548998" "subst" "0" "00000" "ABCA4_000362" "g.94548998C>A" "" "{PMID:Sheremet 2019:31573552}" "" "ABCA4 c.768-1G>T" "error in annotation, should be c.769-1G>T; heterozygous" "Unknown" "?" "" "0" "" "" "g.94083442C>A" "" "likely pathogenic (recessive)" ""
"0000903209" "2" "70" "1" "94548998" "94548998" "subst" "0" "00000" "ABCA4_000362" "g.94548998C>A" "" "{PMID:Sheremet 2019:31573552}" "" "ABCA4 p.V1973X" "error in annotation, should be c.769-1G>T; heterozygous" "Unknown" "?" "" "0" "" "" "g.94083442C>A" "" "likely pathogenic (recessive)" ""
"0000903210" "2" "70" "1" "94473278" "94473278" "del" "3.25908E-5" "00000" "ABCA4_000392" "g.94473278del" "" "{PMID:Sheremet 2019:31573552}" "" "ABCA4 p.L1902fs." "heterozygous; no nucleotide annotation, extrapolated from protein, sequence and databases" "Unknown" "?" "" "0" "" "" "g.94007722del" "" "likely pathogenic (recessive)" ""
"0000903211" "2" "70" "1" "94476367" "94476367" "dup" "0" "00000" "ABCA4_001667" "g.94476367dup" "" "{PMID:Sheremet 2019:31573552}" "" "ABCA4 p.G1961E" "heterozygous; no nucleotide annotation, extrapolated from protein, sequence and databases" "Unknown" "?" "" "0" "" "" "g.94010811dup" "" "likely pathogenic (recessive)" ""
"0000905249" "0" "50" "1" "94510300" "94510300" "subst" "0" "00000" "ABCA4_002531" "g.94510300C>A" "" "{PMID:Stenirri 2012:22706241}" "" "ABCA4 c.2919G>T, p.(Leu973Phe)" "heterozygous" "Unknown" "?" "" "0" "" "" "g.94044744C>A" "" "VUS" ""
"0000905502" "0" "30" "1" "94543389" "94543389" "subst" "0.000861235" "00000" "ABCA4_000312" "g.94543389C>T" "" "{PMID:Marsiglia 2015:25375877}" "" "ABCA4 c.1411G>A, p.E471K" "heterozygous, unlikely causative" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94077833C>T" "" "likely benign" ""
"0000905519" "0" "50" "1" "94463648" "94463648" "subst" "0.000162447" "00000" "ABCA4_001373" "g.94463648G>C" "1/103 cases" "{PMID:Peng 2016:27527345}" "" "ABCA4 c.6498C>G, p.I2166M" "risk factor" "Unknown" "?" "" "0" "" "" "g.93998092G>C" "" "association" ""
"0000905520" "0" "50" "1" "94490534" "94490534" "subst" "0.000125895" "00000" "ABCA4_000520" "g.94490534G>A" "2/103 cases" "{PMID:Peng 2016:27527345}" "" "ABCA4 c.4610C>T, p.T1537M" "risk factor" "Unknown" "?" "" "0" "" "" "g.94024978G>A" "" "association" ""
"0000905521" "0" "50" "1" "94490534" "94490534" "subst" "0.000125895" "00000" "ABCA4_000520" "g.94490534G>A" "2/103 cases" "{PMID:Peng 2016:27527345}" "" "ABCA4 c.4610C>T, p.T1537M" "risk factor" "Unknown" "?" "" "0" "" "" "g.94024978G>A" "" "association" ""
"0000905522" "0" "50" "1" "94496039" "94496039" "subst" "0.00157963" "00000" "ABCA4_000552" "g.94496039C>T" "1/103 cases" "{PMID:Peng 2016:27527345}" "" "ABCA4 c.4297G>A, p.V1433I" "risk factor" "Unknown" "?" "" "0" "" "" "g.94030483C>T" "" "association" ""
"0000905523" "0" "50" "1" "94564355" "94564355" "subst" "0.000105612" "00000" "ABCA4_000365" "g.94564355G>A" "1/103 cases" "{PMID:Peng 2016:27527345}" "" "ABCA4 c.763C>T, p.R255C" "risk factor" "Unknown" "?" "" "0" "" "" "g.94098799G>A" "" "association" ""
"0000905541" "11" "90" "1" "94528666" "94528666" "subst" "0" "00000" "ABCA4_000289" "g.94528666A>C" "" "{PMID:Hayashi 2020:31583501}" "" "ABCA4 c.1760+2T>G" "heterozygous" "Germline" "yes" "" "0" "" "" "g.94063110A>C" "" "pathogenic" ""
"0000905542" "11" "90" "1" "94528666" "94528666" "subst" "0" "00000" "ABCA4_000289" "g.94528666A>C" "" "{PMID:Hayashi 2020:31583501}" "" "ABCA4 c.1760+2T>G" "heterozygous" "Germline" "yes" "" "0" "" "" "g.94063110A>C" "" "pathogenic" ""
"0000905547" "21" "90" "1" "94568588" "94568588" "subst" "0" "00000" "ABCA4_002200" "g.94568588G>A" "" "{PMID:Hayashi 2020:31583501}" "" "ABCA4 c.553C>T, p.Q185*" "heterozygous" "Germline" "yes" "" "0" "" "" "g.94103032G>A" "" "pathogenic" ""
"0000905549" "21" "90" "1" "94568588" "94568588" "subst" "0" "00000" "ABCA4_002200" "g.94568588G>A" "" "{PMID:Hayashi 2020:31583501}" "" "ABCA4 c.553C>T, p.Q185*" "heterozygous" "Germline" "yes" "" "0" "" "" "g.94103032G>A" "" "pathogenic" ""
"0000905551" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Battaglia-Parodi 2012:21786275}" "" "ABCA4 G1961E" "zygosity not mentioned in the paper, other family members checked with no symptoms; no nucleotide annotation, extrapolated from protein and databases" "Germline" "?" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic" ""
"0000905859" "0" "50" "1" "94473287" "94473287" "subst" "0.00293818" "00000" "ABCA4_000395" "g.94473287G>A" "" "{PMID:Zhu 2022:35456422}" "" "ABCA4 c.5908C>T, p.(Leu1970Phe)" "heterozygous, probably non-causal incidental finding" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94007731G>A" "" "VUS" "ACMG"
"0000905886" "0" "90" "1" "94496509" "94496509" "subst" "0.00475243" "00000" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Zhu 2022:35456422}" "" "ABCA4 c.4253+43G>A, p.?" "heterozygous, probably non-causal incidental finding" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94030953C>T" "" "pathogenic" "ACMG"
"0000905945" "0" "90" "1" "94466624" "94466624" "subst" "0.0014345" "00000" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Zhu 2022:35456422}" "" "ABCA4 c.6320G>A, p.(Arg2107His)" "heterozygous, probably non-causal incidental finding" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94001068C>T" "" "pathogenic" "ACMG"
"0000905946" "0" "50" "1" "94564500" "94564500" "subst" "0.00100414" "00000" "ABCA4_000069" "g.94564500G>C" "" "{PMID:Zhu 2022:35456422}" "" "ABCA4 c.618C>G, p.(Ser206Arg)" "heterozygous, probably non-causal incidental finding" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94098944G>C" "" "VUS" "ACMG"
"0000905979" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Zhu 2022:35456422}" "" "ABCA4 c.5882G>A, p.(Gly1961Glu)" "compound heterozygous, probably causal" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94008251C>T" "" "pathogenic" "ACMG"
"0000905980" "0" "90" "1" "94495177" "94495177" "subst" "1.22342E-5" "00000" "ABCA4_000023" "g.94495177A>G" "" "{PMID:Zhu 2022:35456422}" "" "ABCA4 c.4363T>C, p.(Cys1455Arg)" "compound heterozygous, probably causal" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94029621A>G" "" "pathogenic" "ACMG"
"0000905984" "0" "90" "1" "94496666" "94496666" "subst" "0.000219568" "00000" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Zhu 2022:35456422}" "" "ABCA4 c.4139C>T, p.Pro1380Leu" "compound heterozygous, probably causal" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94031110G>A" "" "pathogenic" "ACMG"
"0000905985" "0" "90" "1" "94495071" "94495071" "subst" "6.39479E-5" "00000" "ABCA4_000997" "g.94495071C>T" "" "{PMID:Zhu 2022:35456422}" "" "ABCA4 c.4469G>A, p.Cys1490Tyr" "compound heterozygous, probably causal" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94029515C>T" "" "pathogenic" "ACMG"
"0000905986" "0" "90" "1" "94463488" "94463488" "subst" "5.2803E-5" "00000" "ABCA4_000802" "g.94463488G>A" "" "{PMID:Zhu 2022:35456422}" "" "ABCA4 c.6658C>T, p.Gln2220Ter" "compound heterozygous, probably causal" "Germline/De novo (untested)" "?" "" "0" "" "" "g.93997932G>A" "" "pathogenic" "ACMG"
"0000905987" "0" "70" "1" "94568590" "94568591" "delins" "0" "00000" "ABCA4_000205" "g.94568590_94568591delinsCG" "" "{PMID:Zhu 2022:35456422}" "" "ABCA4 c.550_551delinsCG, p.Ser184Arg" "compound heterozygous, probably causal" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94103034_94103035delinsCG" "" "likely pathogenic" "ACMG"
"0000905988" "0" "90" "1" "94496666" "94496666" "subst" "0.000219568" "00000" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Zhu 2022:35456422}" "" "ABCA4 c.4139C>T, p.Pro1380Leu" "compound heterozygous, probably causal" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94031110G>A" "" "pathogenic" "ACMG"
"0000905989" "0" "90" "1" "94471065" "94471065" "subst" "0.000194997" "00000" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Zhu 2022:35456422}" "" "ABCA4 c.6079C>T, p.Leu2027Ph e" "compound heterozygous, probably causal" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94005509G>A" "" "pathogenic" "ACMG"
"0000905990" "0" "90" "1" "94577135" "94577135" "subst" "2.43718E-5" "00000" "ABCA4_000240" "g.94577135C>T" "" "{PMID:Zhu 2022:35456422}" "" "ABCA4 c.161G>A, p.Cys54Tyr" "compound heterozygous, probably causal" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94111579C>T" "" "pathogenic" "ACMG"
"0000905991" "0" "70" "1" "94544185" "94544185" "subst" "8.12137E-6" "00000" "ABCA4_000177" "g.94544185C>T" "" "{PMID:Zhu 2022:35456422}" "" "ABCA4 c.1317G>A, p.Trp439Ter" "compound heterozygous, probably causal" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94078629C>T" "" "likely pathogenic" "ACMG"
"0000905992" "0" "70" "1" "94473287" "94473287" "subst" "0.00293818" "00000" "ABCA4_000395" "g.94473287G>A" "" "{PMID:Zhu 2022:35456422}" "" "ABCA4 c.5908C>T, p.Leu1970Phe" "compound heterozygous, possibly causal" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94007731G>A" "" "likely pathogenic" "ACMG"
"0000908377" "1" "50" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sheremet 2019:31573552}" "" "ABCA4 G1961E" "heterozygous; no second allele identified; no nucleotide annotation, extrapolated from protein and databases" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000908378" "1" "50" "1" "94564350" "94564350" "subst" "9.34268E-5" "00000" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Klevering 2005:15614537}" "" "ABCA4 768G->T" "heterozygous; no second allele identified; no nucleotide annotation, extrapolated from protein and databases" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94098794C>A" "" "VUS" ""
"0000908379" "1" "90" "1" "94517254" "94517254" "subst" "0.00442654" "00000" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Klevering 2005:15614537}" "" "ABCA4 G683A/delG863;R943Q" "heterozygous; no nucleotide annotation, extrapolated from protein and databases" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000908380" "1" "90" "1" "94517254" "94517254" "subst" "0.00442654" "00000" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Klevering 2005:15614537}" "" "ABCA4 G683A/delG863;R943Q" "heterozygous; no nucleotide annotation, extrapolated from protein and databases" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000908381" "1" "50" "1" "94564350" "94564350" "subst" "9.34268E-5" "00000" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Klevering 2005:15614537}" "" "ABCA4 768G->T" "heterozygous; no second allele identified; no nucleotide annotation, extrapolated from protein and databases" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94098794C>A" "" "VUS" ""
"0000908382" "1" "90" "1" "94517254" "94517254" "subst" "0.00442654" "00000" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Klevering 2005:15614537}" "" "ABCA4 G683A/delG863;R943Q" "heterozygous; no nucleotide annotation, extrapolated from protein and databases" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000908383" "1" "50" "1" "94473807" "94473807" "subst" "0.00480453" "00000" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Sheremet 2019:31573552}" "" "ABCA4 G1961E" "heterozygous; no second allele identified; no nucleotide annotation, extrapolated from protein and databases" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94008251C>T" "" "VUS" ""
"0000908384" "3" "50" "1" "94011395" "94011395" "subst" "0" "00000" "ABCA4_000025" "g.94011395A>G" "" "{PMID:Sheremet 2019:31573552}" "" "ABCA4 IVS38-10T->C" "homozygous; no protein annotation, extrapolated from protein and databases" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94476951A>G" "" "VUS" ""
"0000908385" "3" "50" "1" "94564350" "94564350" "subst" "9.34268E-5" "00000" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Klevering 2005:15614537}" "" "ABCA4 768G->T" "homozygous; no nucleotide annotation, extrapolated from protein and databases" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94098794C>A" "" "VUS" ""
"0000908386" "2" "50" "1" "94564350" "94564350" "subst" "9.34268E-5" "00000" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Klevering 2005:15614537}" "" "ABCA4 768G->T" "heterozygous; no nucleotide annotation, extrapolated from protein and databases" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94098794C>A" "" "VUS" ""
"0000908387" "1" "50" "1" "94512565" "94512565" "subst" "0.030364" "00000" "ABCA4_000002" "g.94512565C>T" "" "{PMID:Klevering 2005:15614537}" "" "ABCA4 G683A/delG863;R943Q" "heterozygous; no nucleotide annotation, extrapolated from protein and databases" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94047009C>T" "" "VUS" ""
"0000908388" "2" "50" "1" "94564350" "94564350" "subst" "9.34268E-5" "00000" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Klevering 2005:15614537}" "" "ABCA4 768G->T" "heterozygous; no nucleotide annotation, extrapolated from protein and databases" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94098794C>A" "" "VUS" ""
"0000908389" "1" "50" "1" "94512565" "94512565" "subst" "0.030364" "00000" "ABCA4_000002" "g.94512565C>T" "" "{PMID:Klevering 2005:15614537}" "" "ABCA4 G683A/delG863;R943Q" "heterozygous; no nucleotide annotation, extrapolated from protein and databases" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94047009C>T" "" "VUS" ""
"0000908390" "2" "50" "1" "94476351" "94476351" "subst" "0.000296608" "00000" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Klevering 2005:15614537}" "" "ABCA4 IVS40+5G->A" "heterozygous; no nucleotide annotation, extrapolated from protein and databases" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94010795C>T" "" "VUS" ""
"0000908391" "1" "50" "1" "94512565" "94512565" "subst" "0.030364" "00000" "ABCA4_000002" "g.94512565C>T" "" "{PMID:Klevering 2005:15614537}" "" "ABCA4 G683A/delG863;R943Q" "heterozygous; no nucleotide annotation, extrapolated from protein and databases" "Germline/De novo (untested)" "?" "" "0" "" "" "g.94047009C>T" "" "VUS" ""
"0000911151" "0" "70" "1" "94463499" "94463499" "subst" "1.21857E-5" "02327" "ABCA4_001568" "g.94463499G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0000911152" "0" "90" "1" "94466422" "94466422" "subst" "2.43651E-5" "02327" "ABCA4_000817" "g.94466422C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000911153" "0" "50" "1" "94466570" "94466570" "subst" "0" "02330" "ABCA4_002534" "g.94466570A>G" "" "" "" "ABCA4(NM_000350.3):c.6374T>C (p.L2125P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000911154" "0" "30" "1" "94474432" "94474432" "subst" "2.85339E-5" "02325" "ABCA4_001663" "g.94474432A>G" "" "" "" "ABCA4(NM_000350.3):c.5715-5T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000911155" "0" "30" "1" "94549923" "94549923" "subst" "0" "02327" "ABCA4_002537" "g.94549923C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000911156" "0" "50" "1" "94568599" "94568599" "subst" "0" "02327" "ABCA4_002538" "g.94568599A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000911157" "0" "50" "1" "94568627" "94568627" "subst" "0.000422314" "02325" "ABCA4_000207" "g.94568627C>T" "" "" "" "ABCA4(NM_000350.2):c.514G>A (p.G172S), ABCA4(NM_000350.3):c.514G>A (p.G172S, p.(Gly172Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000911158" "0" "50" "1" "94577057" "94577057" "subst" "0" "02327" "ABCA4_002539" "g.94577057G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000915783" "1" "90" "1" "94512499" "94512499" "subst" "0.000130029" "04436" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Panneman 2023:36819107}" "" "c.2894A>G" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" ""
"0000915784" "2" "70" "1" "0" "0" "" "0" "04436" "NPHS2_000000" "g.?" "" "{PMID:Panneman 2023:36819107}" "" "c.(4539+1_4540-1)_(4634+1_4635-1)del" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000915822" "1" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "04436" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Panneman 2023:36819107}" "" "c.768G>T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" ""
"0000915823" "2" "90" "1" "94512499" "94512499" "subst" "0.000130029" "04436" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Panneman 2023:36819107}" "" "c.2894A>G" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" ""
"0000915832" "1" "90" "1" "94512499" "94512499" "subst" "0.000130029" "04436" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Panneman 2023:36819107}" "" "c.2894A>G" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" ""
"0000915833" "2" "90" "1" "94476951" "94476951" "subst" "0.000236097" "04436" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Panneman 2023:36819107}" "" "c.[5461-10T>C;5603A>T]" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" ""
"0000915834" "2" "90" "1" "94476467" "94476467" "subst" "0.0424562" "04436" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Panneman 2023:36819107}" "" "c.[5461-10T>C;5603A>T]" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" ""
"0000915836" "1" "70" "1" "94528137" "94528137" "subst" "3.2538E-5" "04436" "ABCA4_002067" "g.94528137C>A" "" "{PMID:Panneman 2023:36819107}" "" "c.1933G>T" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000915837" "2" "70" "1" "94463440" "94463441" "ins" "0" "04436" "ABCA4_002532" "g.94463440_94463441insG" "" "{PMID:Panneman 2023:36819107}" "" "c.6705_6706insC" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000915841" "1" "70" "1" "94528137" "94528137" "subst" "3.2538E-5" "04436" "ABCA4_002067" "g.94528137C>A" "" "{PMID:Panneman 2023:36819107}" "" "c.1933G>T" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000915842" "2" "70" "1" "94488940" "94488940" "subst" "0" "04436" "ABCA4_000511" "g.94488940A>G" "" "{PMID:Panneman 2023:36819107}" "" "c.4667+2T>C" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000915854" "1" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "04436" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Panneman 2023:36819107}" "" "c.768G>T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" ""
"0000915855" "2" "90" "1" "94496666" "94496666" "subst" "0.000219568" "04436" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Panneman 2023:36819107}" "" "c.4139C>T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" ""
"0000915890" "3" "70" "1" "94466639" "94466639" "subst" "0" "04436" "ABCA4_001096" "g.94466639T>G" "" "{PMID:Panneman 2023:36819107}" "" "c.6305A>C" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000915970" "3" "90" "1" "94463488" "94463488" "subst" "5.2803E-5" "04436" "ABCA4_000802" "g.94463488G>A" "" "{PMID:Panneman 2023:36819107}" "" "c.6658C>T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" ""
"0000915988" "1" "90" "1" "94508434" "94508435" "dup" "0" "04436" "ABCA4_000998" "g.94508434_94508435dup" "" "{PMID:Panneman 2023:36819107}" "" "c.3210_3211dup" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" ""
"0000915989" "2" "90" "1" "94476951" "94476951" "subst" "0.000236097" "04436" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Panneman 2023:36819107}" "" "c.[5461-10T>C;5603A>T]" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" ""
"0000915990" "2" "90" "1" "94476467" "94476467" "subst" "0.0424562" "04436" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Panneman 2023:36819107}" "" "c.[5461-10T>C;5603A>T]" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" ""
"0000916000" "1" "70" "1" "94526317" "94526317" "subst" "0" "04436" "ABCA4_002535" "g.94526317T>G" "" "{PMID:Panneman 2023:36819107}" "" "c.1938-2A>C" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000916001" "2" "90" "1" "94480243" "94480243" "subst" "4.06124E-6" "04436" "ABCA4_000448" "g.94480243C>T" "" "{PMID:Panneman 2023:36819107}" "" "c.5316G>A" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" ""
"0000916010" "3" "90" "1" "94476951" "94476951" "subst" "0.000236097" "04436" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Panneman 2023:36819107}" "" "c.[5461-10T>C;5603A>T]" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" ""
"0000916011" "3" "90" "1" "94476467" "94476467" "subst" "0.0424562" "04436" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Panneman 2023:36819107}" "" "c.[5461-10T>C;5603A>T]" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" ""
"0000916047" "1" "90" "1" "94577082" "94577082" "subst" "2.84315E-5" "04436" "ABCA4_000232" "g.94577082C>T" "" "{PMID:Panneman 2023:36819107}" "" "c.214G>A" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" ""
"0000916048" "1" "90" "1" "94495071" "94495071" "subst" "6.39479E-5" "04436" "ABCA4_000997" "g.94495071C>T" "" "{PMID:Panneman 2023:36819107}" "" "c.4469G>A" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" ""
"0000916049" "2" "90" "1" "94577082" "94577082" "subst" "2.84315E-5" "04436" "ABCA4_000232" "g.94577082C>T" "" "{PMID:Panneman 2023:36819107}" "" "c.214G>A" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" ""
"0000916112" "1" "50" "1" "94544183" "94544183" "subst" "0.000146186" "04436" "ABCA4_000317" "g.94544183T>C" "" "{PMID:Panneman 2023:36819107}" "" "c.1319A>G" "" "Unknown" "" "" "0" "" "" "" "" "VUS" ""
"0000916113" "1" "50" "1" "94522186" "94522186" "subst" "2.03383E-5" "04436" "ABCA4_002036" "g.94522186G>A" "" "{PMID:Panneman 2023:36819107}" "" "c.2353C>T" "" "Unknown" "" "" "0" "" "" "" "" "VUS" ""
"0000916114" "2" "50" "1" "94487422" "94487422" "subst" "4.06108E-6" "04436" "ABCA4_001213" "g.94487422G>A" "" "{PMID:Panneman 2023:36819107}" "" "c.4753C>T" "" "Unknown" "" "" "0" "" "" "" "" "VUS" ""
"0000916183" "1" "90" "1" "94495103" "94495103" "subst" "0" "04436" "ABCA4_001813" "g.94495103C>T" "" "{PMID:Panneman 2023:36819107}" "" "c.4437G>A" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" ""
"0000916184" "2" "50" "1" "94463646" "94463646" "subst" "0" "04436" "ABCA4_002533" "g.94463646A>T" "" "{PMID:Panneman 2023:36819107}" "" "c.6500T>A" "" "Unknown" "" "" "0" "" "" "" "" "VUS" ""
"0000916280" "1" "70" "1" "0" "0" "" "0" "04436" "NPHS2_000000" "g.?" "" "{PMID:Panneman 2023:36819107}" "" "c.(3050+1_3051-1)_(3328+1_3329-1)del" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000916281" "2" "90" "1" "94476951" "94476951" "subst" "0.000236097" "04436" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Panneman 2023:36819107}" "" "c.[5461-10T>C;5603A>T]" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" ""
"0000916282" "2" "90" "1" "94476467" "94476467" "subst" "0.0424562" "04436" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Panneman 2023:36819107}" "" "c.[5461-10T>C;5603A>T]" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" ""
"0000916296" "1" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "04436" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Panneman 2023:36819107}" "" "c.768G>T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" ""
"0000916297" "2" "90" "1" "94495983" "94495983" "subst" "8.12348E-6" "04436" "ABCA4_000547" "g.94495983C>T" "" "{PMID:Panneman 2023:36819107}" "" "c.4352+1G>A" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" ""
"0000916342" "3" "90" "1" "94512499" "94512499" "subst" "0.000130029" "04436" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Panneman 2023:36819107}" "" "c.2894A>G" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" ""
"0000916452" "3" "90" "1" "94509018" "94509018" "subst" "8.12869E-6" "04436" "ABCA4_000659" "g.94509018C>T" "" "{PMID:Panneman 2023:36819107}" "" "c.3064G>A" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" ""
"0000916476" "1" "70" "1" "94546114" "94546114" "subst" "0" "04436" "ABCA4_000983" "g.94546114T>C" "" "{PMID:Panneman 2023:36819107}" "" "c.1019A>G" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000916477" "2" "90" "1" "94512580" "94512580" "subst" "2.8431E-5" "04436" "ABCA4_000695" "g.94512580A>G" "" "{PMID:Panneman 2023:36819107}" "" "c.2813T>C" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" ""
"0000916505" "1" "70" "1" "94528235" "94528235" "del" "0" "04436" "ABCA4_002536" "g.94528235del" "" "{PMID:Panneman 2023:36819107}" "" "c.1835del" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000916506" "2" "90" "1" "94522239" "94522239" "subst" "2.03305E-5" "04436" "ABCA4_000736" "g.94522239A>T" "" "{PMID:Panneman 2023:36819107}" "" "c.2300T>A" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" ""
"0000916559" "1" "90" "1" "94526212" "94526212" "subst" "1.22012E-5" "04436" "ABCA4_000075" "g.94526212G>A" "" "{PMID:Panneman 2023:36819107}" "" "c.2041C>T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" ""
"0000916560" "2" "90" "1" "94471056" "94471056" "subst" "2.84398E-5" "04436" "ABCA4_000050" "g.94471056G>A" "" "{PMID:Panneman 2023:36819107}" "" "c.6088C>T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" ""
"0000916561" "1" "90" "1" "94526212" "94526212" "subst" "1.22012E-5" "04436" "ABCA4_000075" "g.94526212G>A" "" "{PMID:Panneman 2023:36819107}" "" "c.2041C>T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" ""
"0000916562" "2" "90" "1" "94471056" "94471056" "subst" "2.84398E-5" "04436" "ABCA4_000050" "g.94471056G>A" "" "{PMID:Panneman 2023:36819107}" "" "c.6088C>T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" ""
"0000916563" "1" "90" "1" "94526212" "94526212" "subst" "1.22012E-5" "04436" "ABCA4_000075" "g.94526212G>A" "" "{PMID:Panneman 2023:36819107}" "" "c.2041C>T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" ""
"0000916564" "2" "90" "1" "94471056" "94471056" "subst" "2.84398E-5" "04436" "ABCA4_000050" "g.94471056G>A" "" "{PMID:Panneman 2023:36819107}" "" "c.6088C>T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" ""
"0000916753" "3" "70" "1" "94463398" "94463412" "del" "7.33472E-5" "04436" "ABCA4_000851" "g.94463398_94463412del" "" "{PMID:Panneman 2023:36819107}" "" "c.6729+5_6729+19del" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000917285" "0" "70" "1" "94510253" "94510253" "subst" "0.000247694" "04333" "ABCA4_000108" "g.94510253A>G" "" "{PMID:Ben Yosef 2023:37287645}" "" "" "" "Unknown" "" "" "0" "" "" "g.94044697A>G" "" "pathogenic" "ACMG"
"0000917286" "0" "70" "1" "94496547" "94496547" "subst" "1.21904E-5" "04333" "ABCA4_000559" "g.94496547C>T" "" "{PMID:Ben Yosef 2023:37287645}" "" "" "" "Unknown" "" "" "0" "" "" "g.94030991C>T" "" "likely pathogenic" ""
"0000919631" "11" "70" "1" "94526296" "94526296" "subst" "1.64555E-5" "04473" "ABCA4_000768" "g.94526296G>A" "" "Bianco 2023, submitted" "" "" "" "Germline" "yes" "" "0" "" "" "g.94060740G>A" "" "pathogenic (recessive)" "ACMG"
"0000919632" "21" "70" "1" "94473807" "94473807" "subst" "0.00480453" "04473" "ABCA4_000046" "g.94473807C>T" "" "Bianco 2023, submitted" "" "" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" "ACMG"
"0000919633" "11" "70" "1" "94526296" "94526296" "subst" "1.64555E-5" "04473" "ABCA4_000768" "g.94526296G>A" "" "Bianco 2023, submitted" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic (recessive)" "ACMG"
"0000919634" "21" "70" "1" "94473807" "94473807" "subst" "0.00480453" "04473" "ABCA4_000046" "g.94473807C>T" "" "Bianco 2023, submitted" "" "" "" "Germline" "yes" "" "" "" "" "g.94008251C>T" "" "pathogenic (recessive)" "ACMG"
"0000919635" "11" "70" "1" "94528679" "94528679" "subst" "2.84368E-5" "04473" "ABCA4_000292" "g.94528679C>G" "" "Bianco 2023, submitted" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic (recessive)" "ACMG"
"0000919636" "21" "70" "1" "94577010" "94577010" "subst" "1.22004E-5" "04473" "ABCA4_000224" "g.94577010T>C" "" "Bianco 2023, submitted" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic (recessive)" "ACMG"
"0000919637" "11" "90" "1" "94578566" "94578566" "subst" "4.06207E-6" "04473" "ABCA4_000246" "g.94578566C>T" "" "Bianco 2023, submitted" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG"
"0000919638" "21" "70" "1" "94577082" "94577082" "subst" "2.84315E-5" "04473" "ABCA4_000232" "g.94577082C>T" "" "Bianco 2023, submitted" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG"
"0000919639" "21" "90" "1" "94514506" "94514507" "delins" "0" "04473" "ABCA4_002540" "g.94514506_94514507delinsA" "" "Bianco 2023, submitted" "" "" "" "Germline" "yes" "" "0" "" "" "g.94048950_94048951delinsA" "" "pathogenic (recessive)" "ACMG"
"0000919640" "10" "70" "1" "94577013" "94577013" "subst" "0" "04473" "ABCA4_001325" "g.94577013A>G" "" "Bianco 2023, submitted" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic (recessive)" "ACMG"
"0000919641" "11" "90" "1" "94495009" "94495009" "dup" "0" "04473" "ABCA4_000087" "g.94495009dup" "" "Bianco 2023, submitted" "" "" "" "Germline" "yes" "" "0" "" "" "g.94029453dup" "" "pathogenic (recessive)" "ACMG"
"0000919642" "21" "70" "1" "94476872" "94476872" "subst" "0" "04473" "ABCA4_001685" "g.94476872C>A" "" "Bianco 2023, submitted" "" "" "" "Germline" "yes" "" "" "" "" "" "" "likely pathogenic (recessive)" "ACMG"
"0000919643" "21" "90" "1" "94546248" "94546248" "del" "2.03666E-5" "04473" "ABCA4_000352" "g.94546248del" "" "Bianco 2023, submitted" "" "" "" "Germline" "yes" "" "0" "" "" "g.94080692del" "" "pathogenic (recessive)" "ACMG"
"0000919644" "10" "70" "1" "94496509" "94496509" "subst" "0.00475243" "04473" "ABCA4_001024" "g.94496509C>T" "" "Bianco 2023, submitted" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic (recessive)" "ACMG"
"0000919645" "0" "70" "1" "94486794" "94486794" "subst" "0" "04473" "ABCA4_000478" "g.94486794A>G" "" "Bianco 2023, submitted" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic (recessive)" "ACMG"
"0000919646" "0" "70" "1" "94496008" "94496008" "subst" "2.03056E-5" "04473" "ABCA4_000148" "g.94496008C>T" "" "Bianco 2023, submitted" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic (recessive)" "ACMG"
"0000919647" "11" "70" "1" "94508353" "94508353" "subst" "2.8431E-5" "04473" "ABCA4_000141" "g.94508353G>A" "" "Bianco 2023, submitted" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic (recessive)" "ACMG"
"0000919648" "21" "70" "1" "94508323" "94508323" "subst" "0.000125953" "04473" "ABCA4_000031" "g.94508323G>A" "" "Bianco 2023, submitted" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic (recessive)" "ACMG"
"0000919649" "11" "70" "1" "94473807" "94473807" "subst" "0.00480453" "04473" "ABCA4_000046" "g.94473807C>T" "" "Bianco 2023, submitted" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic (recessive)" "ACMG"
"0000919650" "21" "70" "1" "94508386" "94508386" "subst" "1.62443E-5" "04473" "ABCA4_000642" "g.94508386C>T" "" "Bianco 2023, submitted" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic (recessive)" "ACMG"
"0000919651" "11" "70" "1" "94508398" "94508398" "subst" "0" "04473" "ABCA4_002541" "g.94508398C>T" "" "Bianco 2023, submitted" "" "" "" "Germline" "yes" "" "" "" "" "" "" "likely pathogenic (recessive)" "ACMG"
"0000919652" "21" "70" "1" "94471055" "94471055" "subst" "0.00035346" "04473" "ABCA4_000029" "g.94471055C>T" "" "Bianco 2023, submitted" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic (recessive)" "ACMG"
"0000919653" "11" "70" "1" "94528819" "94528819" "subst" "2.03128E-5" "04473" "ABCA4_000078" "g.94528819G>A" "" "Bianco 2023, submitted" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic (recessive)" "ACMG"
"0000919654" "21" "70" "1" "94473807" "94473807" "subst" "0.00480453" "04473" "ABCA4_000046" "g.94473807C>T" "" "Bianco 2023, submitted" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic (recessive)" "ACMG"
"0000919655" "11" "70" "1" "94577010" "94577010" "subst" "1.22004E-5" "04473" "ABCA4_000224" "g.94577010T>C" "" "Bianco 2023, submitted" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic (recessive)" "ACMG"
"0000919656" "11" "70" "1" "94577010" "94577010" "subst" "1.22004E-5" "04473" "ABCA4_000224" "g.94577010T>C" "" "Bianco 2023, submitted" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic (recessive)" "ACMG"
"0000919657" "21" "70" "1" "94467476" "94467476" "subst" "0" "04473" "ABCA4_000781" "g.94467476C>T" "" "Bianco 2023, submitted" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic (recessive)" "ACMG"
"0000919658" "21" "70" "1" "94467476" "94467476" "subst" "0" "04473" "ABCA4_000781" "g.94467476C>T" "" "Bianco 2023, submitted" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic (recessive)" "ACMG"
"0000919659" "11" "90" "1" "94528714" "94528714" "subst" "0" "04473" "ABCA4_000296" "g.94528714G>A" "" "Bianco 2023, submitted" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic (recessive)" "ACMG"
"0000919660" "21" "70" "1" "94496509" "94496509" "subst" "0.00475243" "04473" "ABCA4_001024" "g.94496509C>T" "" "Bianco 2023, submitted" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG"
"0000919661" "21" "90" "1" "94514506" "94514507" "delins" "0" "04473" "ABCA4_002540" "g.94514506_94514507delinsA" "" "Bianco 2023, submitted" "" "" "" "Germline" "yes" "" "0" "" "" "g.94048950_94048951delinsA" "" "pathogenic (recessive)" "ACMG"
"0000919662" "10" "70" "1" "94577013" "94577013" "subst" "0" "04473" "ABCA4_001325" "g.94577013A>G" "" "Bianco 2023, submitted" "" "" "" "Germline" "yes" "" "" "" "" "" "" "likely pathogenic (recessive)" "ACMG"
"0000919992" "11" "90" "1" "94577046" "94577049" "dup" "0" "04473" "ABCA4_000227" "g.94577046_94577049dup" "" "Bianco 2023, submitted" "" "" "" "Germline" "yes" "" "0" "" "" "g.94111490_94111493dup" "" "pathogenic (recessive)" "ACMG"
"0000919993" "20" "70" "1" "94480230" "94480230" "subst" "6.09177E-5" "04473" "ABCA4_001053" "g.94480230T>A" "" "Bianco 2023, submitted" "" "" "" "Germline" "yes" "" "" "" "" "" "" "likely pathogenic (recessive)" "ACMG"
"0000919994" "21" "90" "1" "94564549" "94564549" "subst" "0" "04473" "ABCA4_000199" "g.94564549T>A" "" "Bianco 2023, submitted" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic (recessive)" "ACMG"
"0000919995" "11" "70" "1" "94473807" "94473807" "subst" "0.00480453" "04473" "ABCA4_000046" "g.94473807C>T" "" "Bianco 2023, submitted" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic (recessive)" "ACMG"
"0000919996" "10" "90" "1" "94497492" "94497492" "del" "0" "04473" "ABCA4_000584" "g.94497492del" "" "Bianco 2023, submitted" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic (recessive)" "ACMG"
"0000919997" "21" "70" "1" "94568564" "94568564" "subst" "4.46679E-5" "04473" "ABCA4_002543" "g.94568564C>A" "" "Bianco 2023, submitted" "" "" "" "Germline" "yes" "" "" "" "" "" "" "VUS" "ACMG"
"0000919998" "3" "90" "1" "94476351" "94476351" "subst" "0.000296608" "04473" "ABCA4_000996" "g.94476351C>T" "" "Bianco 2023, submitted" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic (recessive)" "ACMG"
"0000919999" "3" "70" "1" "94487251" "94487251" "subst" "2.85679E-5" "04473" "ABCA4_000490" "g.94487251G>T" "" "Bianco 2023, submitted" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic (recessive)" "ACMG"
"0000920000" "21" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "04473" "ABCA4_000997" "g.94495071C>T" "" "Bianco 2023, submitted" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic (recessive)" "ACMG"
"0000920001" "11" "70" "1" "94473807" "94473807" "subst" "0.00480453" "04473" "ABCA4_000046" "g.94473807C>T" "" "Bianco 2023, submitted" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic (recessive)" "ACMG"
"0000920002" "11" "70" "1" "94564430" "94564430" "subst" "0" "04473" "ABCA4_000376" "g.94564430A>T" "" "Bianco 2023, submitted" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic (recessive)" "ACMG"
"0000920003" "21" "70" "1" "94473266" "94473266" "subst" "8.14677E-6" "04473" "ABCA4_000389" "g.94473266C>T" "" "Bianco 2023, submitted" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic (recessive)" "ACMG"
"0000920004" "10" "70" "1" "94528806" "94528806" "subst" "0.000150298" "04473" "ABCA4_000020" "g.94528806A>G" "" "Bianco 2023, submitted" "" "" "" "Germline" "yes" "" "" "" "" "" "" "likely pathogenic (recessive)" "ACMG"
"0000920005" "21" "70" "1" "94508969" "94508969" "subst" "0.00168642" "04473" "ABCA4_000021" "g.94508969G>A" "" "Bianco 2023, submitted" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic (recessive)" "ACMG"
"0000920006" "1" "70" "1" "94490604" "94490604" "subst" "0" "04473" "ABCA4_002544" "g.94490604T>C" "" "Bianco 2023, submitted" "" "" "" "Germline" "yes" "" "" "" "" "" "" "likely pathogenic (recessive)" "ACMG"
"0000920007" "2" "70" "1" "94473807" "94473807" "subst" "0.00480453" "04473" "ABCA4_000046" "g.94473807C>T" "" "Bianco 2023, submitted" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic (recessive)" "ACMG"
"0000920008" "11" "70" "1" "94485247" "94485247" "subst" "4.07647E-5" "04473" "ABCA4_000475" "g.94485247C>T" "" "Bianco 2023, submitted" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic (recessive)" "ACMG"
"0000920009" "20" "70" "1" "94487269" "94487269" "subst" "0" "04473" "ABCA4_001755" "g.94487269C>T" "" "Bianco 2023, submitted" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic (recessive)" "ACMG"
"0000920010" "11" "70" "1" "94520793" "94520793" "subst" "8.13292E-6" "04473" "ABCA4_000723" "g.94520793A>T" "" "Bianco 2023, submitted" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic (recessive)" "ACMG"
"0000920011" "21" "70" "1" "94508322" "94508322" "subst" "1.62513E-5" "04473" "ABCA4_000128" "g.94508322C>T" "" "Bianco 2023, submitted" "" "c.[3323G>A; 4297G>A], p.[(Arg1108His;Val1433Ile)]" "Complex allele" "Germline" "yes" "" "" "" "" "" "" "likely pathogenic (recessive)" "ACMG"
"0000920012" "21" "70" "1" "94496039" "94496039" "subst" "0.00157963" "04473" "ABCA4_000552" "g.94496039C>T" "" "Bianco 2023, submitted" "" "c.[3323G>A; 4297G>A], p.[(Arg1108His;Val1433Ile)]" "Complex allele" "Germline" "yes" "" "" "" "" "" "" "VUS" "ACMG"
"0000920013" "10" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "04473" "ABCA4_000045" "g.94564350C>A" "" "Bianco 2023, submitted" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic (recessive)" "ACMG"
"0000920014" "21" "70" "1" "94473807" "94473807" "subst" "0.00480453" "04473" "ABCA4_000046" "g.94473807C>T" "" "Bianco 2023, submitted" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic (recessive)" "ACMG"
"0000920015" "11" "70" "1" "94526296" "94526296" "subst" "1.64555E-5" "04473" "ABCA4_000768" "g.94526296G>A" "" "Bianco 2023, submitted" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic (recessive)" "ACMG"
"0000920016" "20" "70" "1" "94508353" "94508353" "subst" "2.8431E-5" "04473" "ABCA4_000141" "g.94508353G>A" "" "Bianco 2023, submitted" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic (recessive)" "ACMG"
"0000920017" "20" "70" "1" "94508353" "94508353" "subst" "2.8431E-5" "04473" "ABCA4_000141" "g.94508353G>A" "" "Bianco 2023, submitted" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic (recessive)" "ACMG"
"0000920018" "1" "90" "1" "94486867" "94486867" "del" "0" "04473" "ABCA4_000483" "g.94486867del" "" "Bianco 2023, submitted" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic (recessive)" "ACMG"
"0000920019" "2" "70" "1" "94473807" "94473807" "subst" "0.00480453" "04473" "ABCA4_000046" "g.94473807C>T" "" "Bianco 2023, submitted" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic (recessive)" "ACMG"
"0000920020" "21" "90" "1" "94467413" "94467413" "subst" "0" "04473" "ABCA4_001276" "g.94467413C>T" "" "Bianco 2023, submitted" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic (recessive)" "ACMG"
"0000920021" "10" "70" "1" "94473807" "94473807" "subst" "0.00480453" "04473" "ABCA4_000046" "g.94473807C>T" "" "Bianco 2023, submitted" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic (recessive)" "ACMG"
"0000920022" "1" "70" "1" "94487251" "94487251" "subst" "2.85679E-5" "04473" "ABCA4_000490" "g.94487251G>T" "" "Bianco 2023, submitted" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic (recessive)" "ACMG"
"0000920023" "2" "70" "1" "94473807" "94473807" "subst" "0.00480453" "04473" "ABCA4_000046" "g.94473807C>T" "" "Bianco 2023, submitted" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic (recessive)" "ACMG"
"0000920024" "21" "70" "1" "94473807" "94473807" "subst" "0.00480453" "04473" "ABCA4_000046" "g.94473807C>T" "" "Bianco 2023, submitted" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic (recessive)" "ACMG"
"0000920025" "10" "90" "1" "94466426" "94466426" "subst" "1.62433E-5" "04473" "ABCA4_000124" "g.94466426G>A" "" "Bianco 2023, submitted" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic (recessive)" "ACMG"
"0000920026" "21" "90" "1" "94508349" "94508349" "subst" "0" "04473" "ABCA4_001072" "g.94508349G>C" "" "Bianco 2023, submitted" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic (recessive)" "ACMG"
"0000920027" "11" "70" "1" "94467466" "94467466" "subst" "8.12328E-6" "04473" "ABCA4_000779" "g.94467466C>T" "" "Bianco 2023, submitted" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic (recessive)" "ACMG"
"0000920028" "11" "70" "1" "94467466" "94467466" "subst" "8.12328E-6" "04473" "ABCA4_000779" "g.94467466C>T" "" "Bianco 2023, submitted" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic (recessive)" "ACMG"
"0000920029" "21" "90" "1" "94508349" "94508349" "subst" "0" "04473" "ABCA4_001072" "g.94508349G>C" "" "Bianco 2023, submitted" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic (recessive)" "ACMG"
"0000920030" "1" "70" "1" "94508969" "94508969" "subst" "0.00168642" "04473" "ABCA4_000021" "g.94508969G>A" "" "Bianco 2023, submitted" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic (recessive)" "ACMG"
"0000920031" "2" "70" "1" "94496666" "94496666" "subst" "0.000219568" "04473" "ABCA4_000019" "g.94496666G>A" "" "Bianco 2023, submitted" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic (recessive)" "ACMG"
"0000920032" "11" "70" "1" "94520793" "94520793" "subst" "8.13292E-6" "04473" "ABCA4_000723" "g.94520793A>T" "" "Bianco 2023, submitted" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic (recessive)" "ACMG"
"0000920033" "21" "70" "1" "94487251" "94487251" "subst" "2.85679E-5" "04473" "ABCA4_000490" "g.94487251G>T" "" "Bianco 2023, submitted" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic (recessive)" "ACMG"
"0000920034" "11" "70" "1" "94520793" "94520793" "subst" "8.13292E-6" "04473" "ABCA4_000723" "g.94520793A>T" "" "Bianco 2023, submitted" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic (recessive)" "ACMG"
"0000920035" "21" "70" "1" "94487251" "94487251" "subst" "2.85679E-5" "04473" "ABCA4_000490" "g.94487251G>T" "" "Bianco 2023, submitted" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic (recessive)" "ACMG"
"0000920036" "20" "70" "1" "94577093" "94577093" "subst" "8.12394E-6" "04473" "ABCA4_000147" "g.94577093G>A" "" "Bianco 2023, submitted" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic (recessive)" "ACMG"
"0000920037" "11" "70" "1" "94476830" "94476830" "subst" "8.12671E-6" "04473" "ABCA4_001680" "g.94476830A>T" "" "Bianco 2023, submitted" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic (recessive)" "ACMG"
"0000920038" "11" "70" "1" "94528806" "94528806" "subst" "0.000150298" "04473" "ABCA4_000020" "g.94528806A>G" "" "Bianco 2023, submitted" "" "c.[1622T>C;3113C>T], p.[(Leu541Pro;Ala1038Val)]" "Complex allele" "Germline" "yes" "" "" "" "" "" "" "likely pathogenic (recessive)" "ACMG"
"0000920039" "11" "70" "1" "94508969" "94508969" "subst" "0.00168642" "04473" "ABCA4_000021" "g.94508969G>A" "" "Bianco 2023, submitted" "" "c.[1622T>C;3113C>T], p.[(Leu541Pro;Ala1038Val)]" "Complex allele" "Germline" "yes" "" "" "" "" "" "" "pathogenic (recessive)" "ACMG"
"0000920040" "20" "70" "1" "94473807" "94473807" "subst" "0.00480453" "04473" "ABCA4_000046" "g.94473807C>T" "" "Bianco 2023, submitted" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic (recessive)" "ACMG"
"0000920041" "11" "70" "1" "94473807" "94473807" "subst" "0.00480453" "04473" "ABCA4_000046" "g.94473807C>T" "" "Bianco 2023, submitted" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic (recessive)" "ACMG"
"0000920042" "21" "70" "1" "94473266" "94473266" "subst" "8.14677E-6" "04473" "ABCA4_000389" "g.94473266C>T" "" "Bianco 2023, submitted" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic (recessive)" "ACMG"
"0000920043" "1" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "04473" "ABCA4_000045" "g.94564350C>A" "" "Bianco 2023, sumbitted" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic (recessive)" "ACMG"
"0000920044" "2" "70" "1" "94495021" "94495021" "subst" "0.000161713" "04473" "ABCA4_000538" "g.94495021C>T" "" "Bianco 2023, submitted" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic (recessive)" "ACMG"
"0000920045" "21" "70" "1" "94528806" "94528806" "subst" "0.000150298" "04473" "ABCA4_000020" "g.94528806A>G" "" "Bianco 2023, submitted" "" "c.[1622T>C;4328G>A], p.[(Leu541Pro;Arg1443His)]" "Complex allele" "Germline" "yes" "" "" "" "" "" "" "likely pathogenic (recessive)" "ACMG"
"0000920046" "21" "70" "1" "94496008" "94496008" "subst" "2.03056E-5" "04473" "ABCA4_000148" "g.94496008C>T" "" "Bianco 2023, submitted" "" "c.[1622T>C;4328G>A], p.[(Leu541Pro;Arg1443His)]" "Complex allele" "Germline" "yes" "" "" "" "" "" "" "pathogenic (recessive)" "ACMG"
"0000920047" "10" "70" "1" "94506878" "94506878" "subst" "4.06081E-6" "04473" "ABCA4_001901" "g.94506878T>C" "" "Bianco 2023, submitted" "" "" "" "Germline" "yes" "" "" "" "" "" "" "likely pathogenic (recessive)" "ACMG"
"0000920048" "1" "70" "1" "94476830" "94476830" "subst" "8.12671E-6" "04473" "ABCA4_001680" "g.94476830A>T" "" "Bianco 2023, submitted" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic (recessive)" "ACMG"
"0000920049" "2" "70" "1" "94512484" "94512484" "subst" "0" "04473" "ABCA4_000680" "g.94512484G>A" "" "Bianco 2023, submitted" "" "" "" "Germline" "yes" "" "" "" "" "" "" "likely pathogenic (recessive)" "ACMG"
"0000920050" "21" "70" "1" "94564430" "94564430" "subst" "0" "04473" "ABCA4_000376" "g.94564430A>T" "" "Bianco 2023, submitted" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic (recessive)" "ACMG"
"0000920051" "10" "70" "1" "94473807" "94473807" "subst" "0.00480453" "04473" "ABCA4_000046" "g.94473807C>T" "" "Bianco 2023, submitted" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic (recessive)" "ACMG"
"0000920052" "1" "90" "1" "94486794" "94486794" "subst" "0" "04473" "ABCA4_000478" "g.94486794A>G" "" "Bianco 2023, submitted" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic (recessive)" "ACMG"
"0000920053" "2" "70" "1" "94466456" "94466456" "subst" "8.1217E-6" "04473" "ABCA4_000181" "g.94466456G>A" "" "Bianco 2023, submitted" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic (recessive)" "ACMG"
"0000920054" "21" "70" "1" "94528806" "94528806" "subst" "0.000150298" "04473" "ABCA4_000020" "g.94528806A>G" "" "Bianco 2023, submitted" "" "c.[1622T>C;3113C>T], p.[(Leu541Pro;Ala1038Val)]" "Complex allele" "Germline" "yes" "" "" "" "" "" "" "likely pathogenic (recessive)" "ACMG"
"0000920055" "21" "70" "1" "94508969" "94508969" "subst" "0.00168642" "04473" "ABCA4_000021" "g.94508969G>A" "" "Bianco 2023, submitted" "" "c.[1622T>C;3113C>T], p.[(Leu541Pro;Ala1038Val)]" "Complex allele" "Germline" "yes" "" "" "" "" "" "" "pathogenic (recessive)" "ACMG"
"0000920056" "11" "70" "1" "94473807" "94473807" "subst" "0.00480453" "04473" "ABCA4_000046" "g.94473807C>T" "" "Bianco 2023, submitted" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic (recessive)" "ACMG"
"0000920057" "21" "70" "1" "94528806" "94528806" "subst" "0.000150298" "04473" "ABCA4_000020" "g.94528806A>G" "" "Bianco 2023, submitted" "" "c.[1622T>C;3113C>T], p.[(Leu541Pro;Ala1038Val)]" "Complex allele" "Germline" "yes" "" "" "" "" "" "" "likely pathogenic (recessive)" "ACMG"
"0000920058" "21" "70" "1" "94508969" "94508969" "subst" "0.00168642" "04473" "ABCA4_000021" "g.94508969G>A" "" "Bianco 2023, submitted" "" "c.[1622T>C;3113C>T], p.[(Leu541Pro;Ala1038Val)]" "Complex allele" "Germline" "yes" "" "" "" "" "" "" "pathogenic (recessive)" "ACMG"
"0000920059" "11" "70" "1" "94473807" "94473807" "subst" "0.00480453" "04473" "ABCA4_000046" "g.94473807C>T" "" "Bianco 2023, submitted" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic (recessive)" "ACMG"
"0000920060" "11" "90" "1" "94526154" "94526154" "subst" "4.06441E-6" "04473" "ABCA4_000752" "g.94526154C>T" "" "Bianco 2023, submitted" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic (recessive)" "ACMG"
"0000920061" "20" "90" "1" "94476351" "94476351" "subst" "0.000296608" "04473" "ABCA4_000996" "g.94476351C>T" "" "Bianco 2023, submitted" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic (recessive)" "ACMG"
"0000920062" "3" "70" "1" "94480146" "94480146" "subst" "2.84273E-5" "04473" "ABCA4_000122" "g.94480146T>C" "" "Bianco 2023, submitted" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic (recessive)" "ACMG"
"0000920063" "1" "90" "1" "94486858" "94486858" "subst" "0" "04473" "ABCA4_000482" "g.94486858A>C" "" "Bianco 2023, submitted" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic (recessive)" "ACMG"
"0000920064" "2" "70" "1" "94512602" "94512602" "subst" "0.000369717" "04473" "ABCA4_000052" "g.94512602C>T" "" "Bianco 2023, submitted" "" "" "" "Germline" "yes" "" "" "" "" "" "" "VUS" "ACMG"
"0000920065" "11" "90" "1" "94564549" "94564549" "subst" "0" "04473" "ABCA4_000199" "g.94564549T>A" "" "Bianco 2023, submitted" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic (recessive)" "ACMG"
"0000920066" "21" "70" "1" "94466422" "94466422" "subst" "2.43651E-5" "04473" "ABCA4_000817" "g.94466422C>T" "" "Bianco 2023, submitted" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic (recessive)" "ACMG"
"0000920067" "10" "90" "1" "94526154" "94526154" "subst" "4.06441E-6" "04473" "ABCA4_000752" "g.94526154C>T" "" "Bianco 2023, submitted" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic (recessive)" "ACMG"
"0000920068" "21" "70" "1" "94506901" "94506901" "subst" "0.000308665" "04473" "ABCA4_000054" "g.94506901C>A" "" "Bianco 2023, submitted" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic (recessive)" "ACMG"
"0000920069" "10" "90" "1" "94526154" "94526154" "subst" "4.06441E-6" "04473" "ABCA4_000752" "g.94526154C>T" "" "Bianco 2023, submitted" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic (recessive)" "ACMG"
"0000920070" "21" "70" "1" "94506901" "94506901" "subst" "0.000308665" "04473" "ABCA4_000054" "g.94506901C>A" "" "Bianco 2023, submitted" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic (recessive)" "ACMG"
"0000920071" "1" "70" "1" "94473807" "94473807" "subst" "0.00480453" "04473" "ABCA4_000046" "g.94473807C>T" "" "Bianco 2023, submitted" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic (recessive)" "ACMG"
"0000920072" "2" "90" "1" "94476351" "94476351" "subst" "0.000296608" "04473" "ABCA4_000996" "g.94476351C>T" "" "Bianco 2023, submitted" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic (recessive)" "ACMG"
"0000920073" "11" "90" "1" "94577135" "94577135" "subst" "2.43718E-5" "04473" "ABCA4_000240" "g.94577135C>T" "" "Bianco 2023, submitted" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic (recessive)" "ACMG"
"0000920074" "21" "70" "1" "94471065" "94471065" "subst" "0.000194997" "04473" "ABCA4_000384" "g.94471065G>A" "" "Bianco 2023, submitted" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic (recessive)" "ACMG"
"0000920075" "11" "70" "1" "94520705" "94520705" "subst" "0" "04473" "ABCA4_000714" "g.94520705T>C" "" "Bianco 2023, submitted" "" "c.[2549A>G;5882G>A], p.[(Tyr850Cys;Gly1961Glu)]" "Complex allele" "Germline" "yes" "" "" "" "" "" "" "likely pathogenic (recessive)" "ACMG"
"0000920076" "11" "70" "1" "94473807" "94473807" "subst" "0.00480453" "04473" "ABCA4_000046" "g.94473807C>T" "" "Bianco 2023, submitted" "" "c.[2549A>G;5882G>A], p.[(Tyr850Cys;Gly1961Glu)]" "Complex allele" "Germline" "yes" "" "" "" "" "" "" "pathogenic (recessive)" "ACMG"
"0000920077" "21" "90" "1" "94476951" "94476951" "subst" "0.000236097" "04473" "ABCA4_000025" "g.94476951A>G" "" "Bianco 2023, submitted" "" "c.[5461-10T>C;5603A>T], p.[(Thr1821Aspfs*6,Thr1821Valfs*13;Asn1868Ile)]" "Complex allele" "Germline" "yes" "" "" "" "" "" "" "pathogenic (recessive)" "ACMG"
"0000920078" "21" "70" "1" "94476467" "94476467" "subst" "0.0424562" "04473" "ABCA4_000007" "g.94476467T>A" "" "Bianco 2023, submitted" "" "c.[5461-10T>C;5603A>T], p.[(Thr1821Aspfs*6,Thr1821Valfs*13;Asn1868Ile)]" "Complex allele" "Germline" "yes" "" "" "" "" "" "" "pathogenic (recessive)" "ACMG"
"0000920079" "11" "70" "1" "94520705" "94520705" "subst" "0" "04473" "ABCA4_000714" "g.94520705T>C" "" "Bianco 2023, submitted" "" "c.[2549A>G;5882G>A], p.[(Tyr850Cys;Gly1961Glu)]" "Complex allele" "Germline" "yes" "" "" "" "" "" "" "likely pathogenic (recessive)" "ACMG"
"0000920080" "11" "70" "1" "94473807" "94473807" "subst" "0.00480453" "04473" "ABCA4_000046" "g.94473807C>T" "" "Bianco 2023, submitted" "" "c.[2549A>G;5882G>A], p.[(Tyr850Cys;Gly1961Glu)]" "Complex allele" "Germline" "yes" "" "" "" "" "" "" "pathogenic (recessive)" "ACMG"
"0000920081" "21" "90" "1" "94476951" "94476951" "subst" "0.000236097" "04473" "ABCA4_000025" "g.94476951A>G" "" "Bianco 2023, submitted" "" "c.[5461-10T>C;5603A>T], p.[(Thr1821Aspfs*6,Thr1821Valfs*13;Asn1868Ile)]" "Complex allele" "Germline" "yes" "" "" "" "" "" "" "pathogenic (recessive)" "ACMG"
"0000920082" "21" "70" "1" "94476467" "94476467" "subst" "0.0424562" "04473" "ABCA4_000007" "g.94476467T>A" "" "Bianco 2023, submitted" "" "c.[5461-10T>C;5603A>T], p.[(Thr1821Aspfs*6,Thr1821Valfs*13;Asn1868Ile)]" "Complex allele" "Germline" "yes" "" "" "" "" "" "" "pathogenic (recessive)" "ACMG"
"0000920083" "1" "70" "1" "94528266" "94528266" "subst" "4.477E-5" "04473" "ABCA4_000117" "g.94528266G>A" "" "Bianco 2023, submitted" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic (recessive)" "ACMG"
"0000920084" "2" "70" "1" "94476467" "94476467" "subst" "0.0424562" "04473" "ABCA4_000007" "g.94476467T>A" "" "Bianco 2023, submitted" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic (recessive)" "ACMG"
"0000920085" "21" "90" "1" "94473231" "94473234" "del" "0" "04473" "ABCA4_000387" "g.94473231_94473234del" "" "Bianco 2023, submitted" "" "" "" "Germline" "yes" "" "0" "" "" "g.94007675_94007678del" "" "pathogenic (recessive)" "ACMG"
"0000920086" "10" "70" "1" "94480142" "94480142" "subst" "0" "04473" "ABCA4_001693" "g.94480142C>T" "" "Bianco 2023, submitted" "" "" "" "Germline" "yes" "" "" "" "" "" "" "likely pathogenic (recessive)" "ACMG"
"0000920087" "11" "70" "1" "94520793" "94520793" "subst" "8.13292E-6" "04473" "ABCA4_000723" "g.94520793A>T" "" "Bianco 2023, submitted" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic (recessive)" "ACMG"
"0000920088" "21" "70" "1" "94508322" "94508322" "subst" "1.62513E-5" "04473" "ABCA4_000128" "g.94508322C>T" "" "Bianco 2023, submitted" "" "c.[3323G>A; 4297G>A], p.[(Arg1108His;Val1433Ile)]" "Complex allele" "Germline" "yes" "" "" "" "" "" "" "likely pathogenic (recessive)" "ACMG"
"0000920089" "21" "70" "1" "94496039" "94496039" "subst" "0.00157963" "04473" "ABCA4_000552" "g.94496039C>T" "" "Bianco 2023, submitted" "" "c.[3323G>A; 4297G>A], p.[(Arg1108His;Val1433Ile)]" "Complex allele" "Germline" "yes" "" "" "" "" "" "" "VUS" "ACMG"
"0000920090" "1" "90" "1" "94487465" "94487465" "del" "0" "04473" "ABCA4_000169" "g.94487465del" "" "Bianco 2023, submitted" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic (recessive)" "ACMG"
"0000920091" "2" "90" "1" "94476351" "94476351" "subst" "0.000296608" "04473" "ABCA4_000996" "g.94476351C>T" "" "Bianco 2023, submitted" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic (recessive)" "ACMG"
"0000920092" "21" "90" "1" "94474420" "94474420" "subst" "0" "04473" "ABCA4_001661" "g.94474420C>A" "" "Bianco 2023, submitted" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic (recessive)" "ACMG"
"0000920093" "10" "70" "1" "94476872" "94476872" "subst" "0" "04473" "ABCA4_001685" "g.94476872C>A" "" "Bianco 2023, submitted" "" "" "" "Germline" "yes" "" "" "" "" "" "" "likely pathogenic (recessive)" "ACMG"
"0000920094" "1" "70" "1" "94574147" "94574147" "subst" "8.12236E-6" "04473" "ABCA4_000213" "g.94574147G>A" "" "Bianco 2023, submitted" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic (recessive)" "ACMG"
"0000920095" "2" "70" "1" "94568675" "94568675" "subst" "0.00146249" "04473" "ABCA4_000210" "g.94568675T>C" "" "Bianco 2023, submitted" "" "c.[466A>G;6089G>A], p.[(Ile156Val;Arg2030Gln)]" "Complex allele" "Germline" "yes" "" "" "" "" "" "" "VUS" "ACMG"
"0000920096" "2" "70" "1" "94471055" "94471055" "subst" "0.00035346" "04473" "ABCA4_000029" "g.94471055C>T" "" "Bianco 2023, submitted" "" "c.[466A>G;6089G>A], p.[(Ile156Val;Arg2030Gln)]" "Complex allele" "Germline" "yes" "" "" "" "" "" "" "pathogenic (recessive)" "ACMG"
"0000920097" "1" "90" "1" "94488969" "94488969" "del" "0" "04473" "ABCA4_001776" "g.94488969del" "" "Bianco 2023, submitted" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic (recessive)" "ACMG"
"0000920098" "2" "70" "1" "94473807" "94473807" "subst" "0.00480453" "04473" "ABCA4_000046" "g.94473807C>T" "" "Bianco 2023, submitted" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic (recessive)" "ACMG"
"0000920099" "1" "90" "1" "94586601" "94586601" "subst" "8.12156E-6" "04473" "ABCA4_000264" "g.94586601T>C" "" "Bianco 2023, submitted" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic (recessive)" "ACMG"
"0000920100" "2" "70" "1" "94476467" "94476467" "subst" "0.0424562" "04473" "ABCA4_000007" "g.94476467T>A" "" "Bianco 2023, submitted" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic (recessive)" "ACMG"
"0000920101" "1" "90" "1" "94476351" "94476351" "subst" "0.000296608" "04473" "ABCA4_000996" "g.94476351C>T" "" "Bianco 2023, submitted" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic (recessive)" "ACMG"
"0000920102" "2" "70" "1" "94466452" "94466452" "subst" "4.06088E-6" "04473" "ABCA4_000822" "g.94466452A>T" "" "Bianco 2023, submitted" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic (recessive)" "ACMG"
"0000920103" "21" "90" "1" "94568588" "94568588" "subst" "0" "04473" "ABCA4_002200" "g.94568588G>A" "" "Bianco 2023, submitted" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic (recessive)" "ACMG"
"0000920104" "10" "70" "1" "94495078" "94495078" "subst" "8.37044E-6" "04473" "ABCA4_000042" "g.94495078A>G" "" "Bianco 2023, submitted" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic (recessive)" "ACMG"
"0000920105" "1" "90" "1" "94543426" "94543426" "del" "0" "04473" "ABCA4_000314" "g.94543426del" "" "Bianco 2023, submitted" "" "" "" "Germline" "yes" "" "0" "" "" "g.94077870del" "" "pathogenic (recessive)" "ACMG"
"0000920106" "2" "70" "1" "94528780" "94528780" "subst" "4.06171E-6" "04473" "ABCA4_000299" "g.94528780C>T" "" "Bianco 2023, submitted" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic (recessive)" "ACMG"
"0000920107" "11" "90" "1" "94458799" "94458799" "subst" "4.06964E-6" "04473" "ABCA4_000859" "g.94458799C>T" "" "Bianco 2023, submitted" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic (recessive)" "ACMG"
"0000920108" "21" "70" "1" "94497395" "94497421" "del" "0" "04473" "ABCA4_002542" "g.94497395_94497421del" "" "Bianco 2023, submitted" "" "" "" "Germline" "yes" "" "0" "" "" "g.94031839_94031865del" "" "likely pathogenic (recessive)" "ACMG"
"0000920109" "21" "90" "1" "94467413" "94467413" "subst" "8.12612E-6" "04473" "ABCA4_000131" "g.94467413C>G" "" "Bianco 2023, submitted" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic (recessive)" "ACMG"
"0000920110" "10" "70" "1" "94473807" "94473807" "subst" "0.00480453" "04473" "ABCA4_000046" "g.94473807C>T" "" "Bianco 2023, submitted" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic (recessive)" "ACMG"
"0000923256" "0" "30" "1" "94481812" "94481812" "subst" "0" "02327" "ABCA4_002545" "g.94481812C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000923257" "0" "70" "1" "94512478" "94512478" "subst" "3.65871E-5" "02327" "ABCA4_000678" "g.94512478G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0000923258" "0" "30" "1" "94514425" "94514425" "subst" "8.12189E-6" "02327" "ABCA4_002546" "g.94514425G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000923259" "0" "30" "1" "94526095" "94526095" "subst" "8.13001E-6" "02327" "ABCA4_002263" "g.94526095T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000923260" "0" "30" "1" "94543435" "94543435" "subst" "4.8794E-5" "02330" "ABCA4_002547" "g.94543435C>T" "" "" "" "ABCA4(NM_000350.3):c.1365G>A (p.L455=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000923261" "0" "30" "1" "94564451" "94564451" "subst" "0.000150413" "02327" "ABCA4_000378" "g.94564451T>G" "" "" "" "ABCA4(NM_000350.2):c.667A>C (p.K223Q, p.(Lys223Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000923262" "0" "50" "1" "94568581" "94568581" "subst" "3.65458E-5" "02327" "ABCA4_000202" "g.94568581C>T" "" "" "" "ABCA4(NM_000350.3):c.560G>A (p.R187H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000923263" "0" "70" "1" "94577010" "94577010" "subst" "4.06679E-6" "02327" "ABCA4_000225" "g.94577010T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0000923264" "0" "90" "1" "94577082" "94577082" "subst" "2.84315E-5" "02327" "ABCA4_000232" "g.94577082C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000927598" "0" "90" "1" "94528169" "94528169" "subst" "0" "04300" "ABCA4_002846" "g.94528169A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.94062613A>G" "" "likely pathogenic (recessive)" ""
"0000927599" "0" "90" "1" "94574138" "94574138" "del" "0" "04300" "ABCA4_002847" "g.94574138del" "" "" "" "g.94574136CA>C" "" "Germline" "" "" "0" "" "" "g.94108582del" "" "likely pathogenic (recessive)" ""
"0000927601" "0" "90" "1" "94526259" "94526259" "del" "0" "04300" "ABCA4_002848" "g.94526259del" "" "" "" "g.94526258GT>G" "" "Germline" "" "" "0" "" "" "g.94060703del" "" "likely pathogenic (recessive)" "ACMG"
"0000927622" "1" "90" "1" "94564011" "94564421" "del" "0" "04506" "ABCA4_002170" "g.94564011_94564421del" "" "{PMID:Rodríguez-Hidalgo 2023:37779911}, {DOI:Rodríguez-Hidalgo 2023:10.3389/fgene.2023.1234032}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94098455_94098865del" "{CV:856501}" "pathogenic (recessive)" ""
"0000927623" "2" "90" "1" "94463701" "94463701" "subst" "0" "04506" "ABCA4_002548" "g.94463701T>C" "" "{PMID:Rodríguez-Hidalgo 2023:37779911}, {DOI:Rodríguez-Hidalgo 2023:10.3389/fgene.2023.1234032}" "" "" "" "Germline" "yes" "" "0" "" "" "g.93998145T>C" "" "likely pathogenic (recessive)" ""
"0000927624" "10" "90" "1" "94463701" "94463701" "subst" "0" "04506" "ABCA4_002548" "g.94463701T>C" "" "{PMID:Rodríguez-Hidalgo 2023:37779911}, {DOI:Rodríguez-Hidalgo 2023:10.3389/fgene.2023.1234032}" "" "" "effect on RNA predicted from midigene splicing assay" "Germline" "yes" "" "0" "" "" "g.93998145T>C" "" "likely pathogenic (recessive)" ""
"0000927625" "21" "90" "1" "94526295" "94526295" "subst" "3.69731E-5" "04506" "ABCA4_000114" "g.94526295C>T" "" "{PMID:Rodríguez-Hidalgo 2023:37779911}, {DOI:Rodríguez-Hidalgo 2023:10.3389/fgene.2023.1234032}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94060739C>T" "{CV:417982}" "likely pathogenic (recessive)" ""
"0000927641" "0" "50" "1" "94544234" "94544234" "subst" "0.255245" "04473" "ABCA4_000322" "g.94544234T>C" "" "{PMID:Bianco 2023:36563963}" "" "" "" "Unknown" "-" "" "0" "" "" "" "" "benign (recessive)" "ACMG"
"0000927648" "0" "50" "1" "94528774" "94528774" "subst" "0.00264827" "04473" "ABCA4_000298" "g.94528774C>T" "" "{PMID:Bianco 2023:36563963}" "" "" "" "Germline" "-" "" "0" "" "" "" "" "benign (recessive)" "ACMG"
"0000927649" "0" "50" "1" "94497454" "94497454" "subst" "0" "04473" "ABCA4_002549" "g.94497454C>A" "" "{PMID:Bianco 2023:36563963}" "" "" "" "Unknown" "-" "" "0" "" "" "" "" "VUS" "ACMG"
"0000927651" "0" "50" "1" "94528774" "94528774" "subst" "0.00264827" "04473" "ABCA4_000298" "g.94528774C>T" "" "{PMID:Bianco 2023:36563963}" "" "" "" "Germline" "-" "" "0" "" "" "" "" "likely benign (recessive)" "ACMG"
"0000927653" "0" "50" "1" "94546265" "94546265" "subst" "2.04063E-5" "04473" "ABCA4_000355" "g.94546265G>A" "" "{PMID:Bianco 2023:36563963}" "" "" "" "Unknown" "-" "" "0" "" "" "" "" "likely pathogenic (recessive)" "ACMG"
"0000928230" "0" "90" "1" "94486794" "94486794" "subst" "0" "02327" "ABCA4_000479" "g.94486794A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000928231" "0" "30" "1" "94486880" "94486880" "subst" "0" "02327" "ABCA4_002550" "g.94486880T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000928232" "0" "90" "1" "94486895" "94486895" "subst" "3.24923E-5" "02327" "ABCA4_000484" "g.94486895C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000928233" "0" "70" "1" "94493895" "94493895" "subst" "0" "02327" "ABCA4_001084" "g.94493895G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0000928234" "0" "70" "1" "94493901" "94493901" "subst" "0" "02327" "ABCA4_001288" "g.94493901T>C" "" "" "" "ABCA4(NM_000350.3):c.4539+1100A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0000928235" "0" "70" "1" "94496099" "94496099" "subst" "0" "02327" "ABCA4_002551" "g.94496099A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0000928236" "0" "50" "1" "94496539" "94496539" "subst" "0" "02327" "ABCA4_002552" "g.94496539C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000928237" "0" "50" "1" "94496581" "94496581" "subst" "0" "02327" "ABCA4_000566" "g.94496581C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000928238" "0" "50" "1" "94497526" "94497526" "subst" "8.13862E-6" "02327" "ABCA4_002553" "g.94497526C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000928239" "0" "50" "1" "94506865" "94506865" "subst" "1.21826E-5" "02327" "ABCA4_002404" "g.94506865G>A" "" "" "" "ABCA4(NM_000350.3):c.3422C>T (p.S1141L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000928240" "0" "50" "1" "94528245" "94528245" "subst" "0" "02330" "ABCA4_002554" "g.94528245C>T" "" "" "" "ABCA4(NM_000350.3):c.1825G>A (p.A609T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000928241" "0" "30" "1" "94546736" "94546736" "subst" "0" "02327" "ABCA4_002555" "g.94546736G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000928242" "0" "30" "1" "94549000" "94549000" "subst" "0.000517603" "02327" "ABCA4_001438" "g.94549000G>A" "" "" "" "ABCA4(NM_000350.2):c.769-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000928243" "0" "70" "1" "94549781" "94549781" "subst" "0" "02327" "ABCA4_001046" "g.94549781G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0000928244" "0" "50" "1" "94564500" "94564500" "subst" "0.00100414" "02327" "ABCA4_000069" "g.94564500G>C" "" "" "" "ABCA4(NM_000350.2):c.618C>G (p.S206R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000928245" "0" "50" "1" "94564544" "94564544" "subst" "0.000432798" "02327" "ABCA4_000383" "g.94564544C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000928246" "0" "90" "1" "94586601" "94586601" "subst" "8.12156E-6" "02327" "ABCA4_000264" "g.94586601T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000931646" "21" "70" "1" "94520801" "94520801" "subst" "0.000211489" "00006" "ABCA4_000724" "g.94520801C>T" "" "{PMID:Sajan 2019:30478137}" "" "c.2453G>A (G818E)" "" "Germline" "" "" "0" "" "" "g.94055245C>T" "" "likely pathogenic" ""
"0000932047" "1" "90" "1" "94517254" "94517254" "subst" "0.00442654" "04536" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[2588G>C;5603A>T]" "" "Germline" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" "ACMG"
"0000932048" "1" "30" "1" "94549781" "94549781" "subst" "0" "04536" "ABCA4_001046" "g.94549781G>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[769-784C>T;5882G>A]" "" "Germline" "" "" "0" "" "" "g.94084225G>A" "" "likely benign" "ACMG"
"0000932049" "1" "90" "1" "94517254" "94517254" "subst" "0.00442654" "04536" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[2588G>C;5603A>T]" "" "Germline" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" "ACMG"
"0000932050" "1" "70" "1" "94528217" "94528217" "subst" "0" "04536" "ABCA4_000272" "g.94528217C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[1853G>A;4297G>A]" "" "Germline" "" "" "0" "" "" "g.94062661C>T" "" "likely pathogenic (recessive)" "ACMG"
"0000932051" "1" "90" "1" "94492937" "94492937" "subst" "0" "04536" "ABCA4_000529" "g.94492937G>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94027381G>A" "" "pathogenic (recessive)" "ACMG"
"0000932052" "1" "90" "1" "94577135" "94577135" "subst" "2.43718E-5" "04536" "ABCA4_000240" "g.94577135C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94111579C>T" "" "pathogenic (recessive)" "ACMG"
"0000932053" "1" "90" "1" "94528806" "94528806" "subst" "0.000150298" "04536" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94063250A>G" "" "pathogenic (recessive)" "ACMG"
"0000932054" "1" "90" "1" "94578618" "94578618" "subst" "0.000166918" "04536" "ABCA4_000252" "g.94578618C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94113062C>T" "" "pathogenic (recessive)" "ACMG"
"0000932055" "1" "50" "1" "94496509" "94496509" "subst" "0.00475243" "04536" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94030953C>T" "" "VUS" "ACMG"
"0000932056" "1" "70" "1" "94508969" "94508969" "subst" "0.00168642" "04536" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic (recessive)" "ACMG"
"0000932057" "1" "90" "1" "94496548" "94496548" "subst" "2.43787E-5" "04536" "ABCA4_000088" "g.94496548G>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94030992G>A" "" "pathogenic (recessive)" "ACMG"
"0000932058" "1" "90" "1" "94528164" "94528164" "subst" "2.03336E-5" "04536" "ABCA4_000267" "g.94528164G>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94062608G>A" "" "pathogenic (recessive)" "ACMG"
"0000932059" "1" "90" "1" "94528806" "94528806" "subst" "0.000150298" "04536" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[1622T>C;3113C>T]" "" "Germline" "" "" "0" "" "" "g.94063250A>G" "" "pathogenic (recessive)" "ACMG"
"0000932060" "1" "90" "1" "94476951" "94476951" "subst" "0.000236097" "04536" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[5461-10T>C;5603A>T]" "" "Germline" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" "ACMG"
"0000932061" "0" "90" "1" "94520665" "94520665" "subst" "0" "04536" "ABCA4_000707" "g.94520665A>G" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94055109A>G" "" "pathogenic (recessive)" "ACMG"
"0000932062" "1" "90" "1" "94497564" "94497564" "subst" "1.64383E-5" "04536" "ABCA4_000091" "g.94497564G>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94032008G>A" "" "pathogenic (recessive)" "ACMG"
"0000932063" "1" "30" "1" "94549781" "94549781" "subst" "0" "04536" "ABCA4_001046" "g.94549781G>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[769-784C>T;5882G>A]" "" "Germline" "yes" "" "0" "" "" "g.94084225G>A" "" "likely benign" "ACMG"
"0000932064" "1" "90" "1" "94526295" "94526295" "subst" "3.69731E-5" "04536" "ABCA4_000114" "g.94526295C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94060739C>T" "" "pathogenic (recessive)" "ACMG"
"0000932065" "1" "90" "1" "94508433" "94508433" "subst" "8.12209E-6" "04536" "ABCA4_000151" "g.94508433G>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94042877G>A" "" "pathogenic (recessive)" "ACMG"
"0000932066" "1" "90" "1" "94512507" "94512507" "del" "0" "04536" "ABCA4_000155" "g.94512507del" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[2888del;5603A>T]" "" "Germline" "yes" "" "0" "" "" "g.94046951del" "" "pathogenic (recessive)" "ACMG"
"0000932067" "1" "90" "1" "94510164" "94510164" "subst" "1.62441E-5" "04536" "ABCA4_000144" "g.94510164C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94044608C>T" "" "pathogenic (recessive)" "ACMG"
"0000932068" "1" "70" "1" "94566773" "94566773" "subst" "0" "04536" "ABCA4_000946" "g.94566773T>C" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94101217T>C" "" "likely pathogenic (recessive)" "ACMG"
"0000932069" "1" "90" "1" "94528780" "94528780" "subst" "4.06171E-6" "04536" "ABCA4_000299" "g.94528780C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94063224C>T" "" "pathogenic (recessive)" "ACMG"
"0000932070" "1" "90" "1" "94505599" "94505599" "subst" "0" "04536" "ABCA4_000152" "g.94505599C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94040043C>T" "" "pathogenic (recessive)" "ACMG"
"0000932071" "1" "50" "1" "94528278" "94528278" "subst" "8.14571E-5" "04536" "ABCA4_000286" "g.94528278C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[1792G>A;4771G>A]" "" "Germline" "yes" "" "0" "" "" "g.94062722C>T" "" "VUS" "ACMG"
"0000932072" "1" "70" "1" "94510164" "94510164" "subst" "1.62441E-5" "04536" "ABCA4_000144" "g.94510164C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94044608C>T" "" "likely pathogenic (recessive)" "ACMG"
"0000932073" "1" "90" "1" "94586549" "94586549" "subst" "0" "04536" "ABCA4_001329" "g.94586549C>G" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94120993C>G" "" "pathogenic (recessive)" "ACMG"
"0000932074" "1" "90" "1" "94528806" "94528806" "subst" "0.000150298" "04536" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[1622T>C;3113C>T]" "" "Germline" "" "" "0" "" "" "g.94063250A>G" "" "pathogenic (recessive)" "ACMG"
"0000932075" "1" "70" "1" "94510178" "94510178" "subst" "0" "04536" "ABCA4_000664" "g.94510178A>C" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94044622A>C" "" "likely pathogenic (recessive)" "ACMG"
"0000932076" "1" "90" "1" "94528806" "94528806" "subst" "0.000150298" "04536" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[1622T>C;3113C>T]" "" "Germline" "" "" "0" "" "" "g.94063250A>G" "" "pathogenic (recessive)" "ACMG"
"0000932077" "1" "70" "1" "94510164" "94510164" "subst" "1.62441E-5" "04536" "ABCA4_000144" "g.94510164C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94044608C>T" "" "likely pathogenic (recessive)" "ACMG"
"0000932078" "1" "50" "1" "94520690" "94520690" "subst" "2.03102E-5" "04536" "ABCA4_000149" "g.94520690C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94055134C>T" "" "VUS" "ACMG"
"0000932079" "0" "50" "1" "94578533" "94578533" "subst" "8.12242E-6" "04536" "ABCA4_002239" "g.94578533A>C" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94112977A>C" "" "VUS" "ACMG"
"0000932080" "1" "50" "1" "94543278" "94543278" "subst" "0.000178952" "04536" "ABCA4_000004" "g.94543278G>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[1522C>T;5603A>T]" "" "Germline" "yes" "" "0" "" "" "g.94077722G>A" "" "VUS" "ACMG"
"0000932081" "1" "70" "1" "94463450" "94463452" "del" "0" "04536" "ABCA4_002558" "g.94463450_94463452del" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "novel variant" "Germline" "" "" "0" "" "" "g.93997894_93997896del" "" "likely pathogenic (recessive)" "ACMG"
"0000932082" "1" "30" "1" "94549781" "94549781" "subst" "0" "04536" "ABCA4_001046" "g.94549781G>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[769-784C>T;5882G>A]" "" "Germline" "" "" "0" "" "" "g.94084225G>A" "" "likely benign" "ACMG"
"0000932083" "1" "70" "1" "94586601" "94586601" "subst" "8.12156E-6" "04536" "ABCA4_000264" "g.94586601T>C" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94121045T>C" "" "likely pathogenic (recessive)" "ACMG"
"0000932084" "1" "90" "1" "94496583" "94496583" "subst" "2.03092E-5" "04536" "ABCA4_000190" "g.94496583A>G" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[4222T>C;4918C>T]" "" "Germline" "" "" "0" "" "" "g.94031027A>G" "" "pathogenic (recessive)" "ACMG"
"0000932085" "1" "90" "1" "94509026" "94509026" "subst" "4.06497E-5" "04536" "ABCA4_000660" "g.94509026G>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94043470G>A" "" "pathogenic (recessive)" "ACMG"
"0000932086" "3" "90" "1" "94471032" "94471032" "subst" "1.62553E-5" "04536" "ABCA4_000792" "g.94471032G>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94005476G>A" "" "pathogenic (recessive)" "ACMG"
"0000932087" "1" "70" "1" "94528854" "94528854" "subst" "0" "04536" "ABCA4_002105" "g.94528854A>G" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94063298A>G" "" "likely pathogenic (recessive)" "ACMG"
"0000932088" "1" "90" "1" "94495083" "94495083" "subst" "0.000124542" "04536" "ABCA4_000542" "g.94495083G>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94029527G>A" "" "pathogenic (recessive)" "ACMG"
"0000932089" "1" "90" "1" "94528806" "94528806" "subst" "0.000150298" "04536" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[1622T>C;3113C>T]" "" "Germline" "" "" "0" "" "" "g.94063250A>G" "" "pathogenic (recessive)" "ACMG"
"0000932090" "1" "90" "1" "94508322" "94508322" "subst" "1.62513E-5" "04536" "ABCA4_000128" "g.94508322C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94042766C>T" "" "pathogenic (recessive)" "ACMG"
"0000932091" "1" "50" "1" "94520690" "94520690" "subst" "2.03102E-5" "04536" "ABCA4_000149" "g.94520690C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94055134C>T" "" "VUS" "ACMG"
"0000932092" "2" "90" "1" "94576993" "94576993" "subst" "2.03513E-5" "04536" "ABCA4_000069" "g.94576993C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94111437C>T" "" "pathogenic (recessive)" "ACMG"
"0000932093" "1" "90" "1" "94578618" "94578618" "subst" "0.000166918" "04536" "ABCA4_000252" "g.94578618C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94113062C>T" "" "pathogenic (recessive)" "ACMG"
"0000932094" "1" "70" "1" "94520858" "94520858" "subst" "5.70683E-5" "04536" "ABCA4_002362" "g.94520858G>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94055302G>A" "" "likely pathogenic (recessive)" "ACMG"
"0000932095" "1" "50" "1" "94476467" "94476467" "subst" "0.0424562" "04536" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000932096" "1" "90" "1" "94473807" "94473807" "subst" "0.00480453" "04536" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" "ACMG"
"0000932097" "1" "90" "1" "94577046" "94577049" "dup" "0" "04536" "ABCA4_000227" "g.94577046_94577049dup" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94111490_94111493dup" "" "pathogenic (recessive)" "ACMG"
"0000932098" "1" "70" "1" "94544913" "94544913" "subst" "0" "04536" "ABCA4_000331" "g.94544913G>C" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94079357G>C" "" "likely pathogenic (recessive)" "ACMG"
"0000932099" "0" "90" "1" "94564549" "94564549" "subst" "0" "04536" "ABCA4_000199" "g.94564549T>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94098993T>A" "" "pathogenic (recessive)" "ACMG"
"0000932100" "1" "90" "1" "94488946" "94488947" "del" "0" "04536" "ABCA4_001774" "g.94488946_94488947del" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94023390_94023391del" "" "pathogenic (recessive)" "ACMG"
"0000932101" "1" "70" "1" "94577008" "94577008" "subst" "0" "04536" "ABCA4_000223" "g.94577008G>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94111452G>T" "" "likely pathogenic (recessive)" "ACMG"
"0000932102" "1" "90" "1" "94546248" "94546248" "del" "2.03666E-5" "04536" "ABCA4_000352" "g.94546248del" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94080692del" "" "pathogenic (recessive)" "ACMG"
"0000932103" "1" "90" "1" "94577046" "94577049" "dup" "0" "04536" "ABCA4_000227" "g.94577046_94577049dup" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94111490_94111493dup" "" "pathogenic (recessive)" "ACMG"
"0000932104" "1" "90" "1" "94577046" "94577049" "dup" "0" "04536" "ABCA4_000227" "g.94577046_94577049dup" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94111490_94111493dup" "" "pathogenic (recessive)" "ACMG"
"0000932105" "1" "50" "1" "94476467" "94476467" "subst" "0.0424562" "04536" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000932106" "1" "90" "1" "94473807" "94473807" "subst" "0.00480453" "04536" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" "ACMG"
"0000932107" "3" "90" "1" "94564484" "94564484" "subst" "0.000110199" "04536" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94098928G>A" "" "pathogenic (recessive)" "ACMG"
"0000932108" "1" "70" "1" "94512580" "94512580" "subst" "2.8431E-5" "04536" "ABCA4_000695" "g.94512580A>G" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94047024A>G" "" "likely pathogenic (recessive)" "ACMG"
"0000932109" "1" "90" "1" "94564548" "94564548" "subst" "0" "04536" "ABCA4_000197" "g.94564548C>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94098992C>A" "" "pathogenic (recessive)" "ACMG"
"0000932110" "1" "90" "1" "94495009" "94495009" "dup" "0" "04536" "ABCA4_000087" "g.94495009dup" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94029453dup" "" "pathogenic (recessive)" "ACMG"
"0000932111" "1" "70" "1" "94546265" "94546265" "subst" "2.04063E-5" "04536" "ABCA4_000355" "g.94546265G>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94080709G>A" "" "likely pathogenic (recessive)" "ACMG"
"0000932112" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "04536" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000932113" "1" "90" "1" "94495186" "94495186" "subst" "0" "04536" "ABCA4_001817" "g.94495186C>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94029630C>A" "" "pathogenic (recessive)" "ACMG"
"0000932114" "1" "90" "1" "94486895" "94486895" "subst" "3.24923E-5" "04536" "ABCA4_000484" "g.94486895C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94021339C>T" "" "pathogenic (recessive)" "ACMG"
"0000932115" "1" "50" "1" "94544977" "94544977" "subst" "0.000544432" "04536" "ABCA4_000332" "g.94544977A>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94079421A>T" "" "VUS" "ACMG"
"0000932116" "1" "90" "1" "94508323" "94508323" "subst" "0.000125953" "04536" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" "ACMG"
"0000932117" "1" "70" "1" "94514424" "94514424" "subst" "4.06105E-6" "04536" "ABCA4_000972" "g.94514424C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94048868C>T" "" "likely pathogenic (recessive)" "ACMG"
"0000932118" "1" "90" "1" "94577010" "94577010" "subst" "1.22004E-5" "04536" "ABCA4_000224" "g.94577010T>C" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94111454T>C" "" "pathogenic (recessive)" "ACMG"
"0000932119" "1" "90" "1" "94526296" "94526296" "subst" "1.64555E-5" "04536" "ABCA4_000768" "g.94526296G>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94060740G>A" "" "pathogenic (recessive)" "ACMG"
"0000932120" "1" "90" "1" "94528806" "94528806" "subst" "0.000150298" "04536" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[1622T>C;3113C>T]" "" "Germline" "" "" "0" "" "" "g.94063250A>G" "" "pathogenic (recessive)" "ACMG"
"0000932121" "1" "90" "1" "94486794" "94486794" "subst" "0" "04536" "ABCA4_000478" "g.94486794A>G" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94021238A>G" "" "pathogenic (recessive)" "ACMG"
"0000932122" "1" "50" "1" "94512533" "94512533" "subst" "0" "04536" "ABCA4_000133" "g.94512533A>C" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94046977A>C" "" "VUS" "ACMG"
"0000932123" "1" "70" "1" "94574147" "94574147" "subst" "8.12236E-6" "04536" "ABCA4_000213" "g.94574147G>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94108591G>A" "" "likely pathogenic (recessive)" "ACMG"
"0000932124" "1" "90" "1" "94526212" "94526212" "subst" "1.22012E-5" "04536" "ABCA4_000075" "g.94526212G>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94060656G>A" "" "pathogenic (recessive)" "ACMG"
"0000932125" "1" "90" "1" "94508323" "94508323" "subst" "0.000125953" "04536" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" "ACMG"
"0000932126" "1" "90" "1" "94496571" "94496571" "subst" "4.06174E-6" "04536" "ABCA4_000111" "g.94496571G>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94031015G>A" "" "pathogenic (recessive)" "ACMG"
"0000932127" "0" "70" "1" "94574273" "94574273" "subst" "0" "04536" "ABCA4_002583" "g.94574273C>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94108717C>A" "" "likely pathogenic (recessive)" "ACMG"
"0000932128" "1" "90" "1" "94496666" "94496666" "subst" "0.000219568" "04536" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94031110G>A" "" "pathogenic (recessive)" "ACMG"
"0000932129" "1" "90" "1" "94517254" "94517254" "subst" "0.00442654" "04536" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[2588G>C;5603A>T]" "" "Germline" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" "ACMG"
"0000932130" "0" "30" "1" "94549781" "94549781" "subst" "0" "04536" "ABCA4_001046" "g.94549781G>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94084225G>A" "" "likely benign" "ACMG"
"0000932131" "1" "70" "1" "94506880" "94506880" "subst" "0" "04536" "ABCA4_001902" "g.94506880C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94041324C>T" "" "likely pathogenic (recessive)" "ACMG"
"0000932132" "1" "70" "1" "94485163" "94485163" "subst" "0" "04536" "ABCA4_002563" "g.94485163C>G" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94019607C>G" "" "likely pathogenic (recessive)" "ACMG"
"0000932133" "1" "90" "1" "94502326" "94502326" "subst" "0" "04536" "ABCA4_001865" "g.94502326C>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94036770C>A" "" "pathogenic (recessive)" "ACMG"
"0000932134" "1" "90" "1" "94510253" "94510253" "subst" "0.000247694" "04536" "ABCA4_000108" "g.94510253A>G" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94044697A>G" "" "pathogenic (recessive)" "ACMG"
"0000932135" "1" "90" "1" "94586541" "94586541" "subst" "4.0624E-6" "04536" "ABCA4_000256" "g.94586541G>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94120985G>A" "" "pathogenic (recessive)" "ACMG"
"0000932136" "1" "90" "1" "94528806" "94528806" "subst" "0.000150298" "04536" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[1622T>C;3113C>T]" "" "Germline" "" "" "0" "" "" "g.94063250A>G" "" "pathogenic (recessive)" "ACMG"
"0000932137" "1" "70" "1" "94507560" "94511924" "del" "0" "04536" "ABCA4_002571" "g.94507560_94511924del" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94042004_94046368del" "" "likely pathogenic (recessive)" "ACMG"
"0000932138" "1" "90" "1" "94544185" "94544185" "subst" "8.12137E-6" "04536" "ABCA4_000177" "g.94544185C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94078629C>T" "" "pathogenic (recessive)" "ACMG"
"0000932139" "0" "90" "1" "94495009" "94495009" "dup" "0" "04536" "ABCA4_000087" "g.94495009dup" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94029453dup" "" "pathogenic (recessive)" "ACMG"
"0000932140" "1" "90" "1" "94484001" "94484001" "subst" "0" "04536" "ABCA4_000016" "g.94484001C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94018445C>T" "" "pathogenic (recessive)" "ACMG"
"0000932141" "0" "50" "1" "94520708" "94520708" "subst" "0.00102774" "04536" "ABCA4_000074" "g.94520708A>G" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94055152A>G" "" "VUS" "ACMG"
"0000932142" "1" "50" "1" "94509799" "94509799" "subst" "0" "04536" "ABCA4_000925" "g.94509799G>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94044243G>A" "" "VUS" "ACMG"
"0000932143" "1" "90" "1" "94473807" "94473807" "subst" "0.00480453" "04536" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" "ACMG"
"0000932144" "1" "50" "1" "94546820" "94546820" "subst" "0" "04536" "ABCA4_002504" "g.94546820C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94081264C>T" "" "VUS" "ACMG"
"0000932145" "1" "50" "1" "94496509" "94496509" "subst" "0.00475243" "04536" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94030953C>T" "" "VUS" "ACMG"
"0000932146" "1" "70" "1" "94506959" "94506959" "subst" "8.12321E-6" "04536" "ABCA4_001078" "g.94506959C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94041403C>T" "" "likely pathogenic (recessive)" "ACMG"
"0000932147" "1" "50" "1" "94466739" "94466739" "subst" "0" "04536" "ABCA4_002460" "g.94466739C>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94001183C>A" "" "VUS" "ACMG"
"0000932148" "1" "90" "1" "94510248" "94510248" "subst" "0.000544123" "04536" "ABCA4_000107" "g.94510248C>G" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94044692C>G" "" "pathogenic (recessive)" "ACMG"
"0000932149" "1" "90" "1" "94528780" "94528780" "subst" "4.06171E-6" "04536" "ABCA4_000299" "g.94528780C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94063224C>T" "" "pathogenic (recessive)" "ACMG"
"0000932150" "1" "90" "1" "94473807" "94473807" "subst" "0.00480453" "04536" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" "ACMG"
"0000932151" "1" "90" "1" "94528780" "94528780" "subst" "4.06171E-6" "04536" "ABCA4_000299" "g.94528780C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94063224C>T" "" "pathogenic (recessive)" "ACMG"
"0000932152" "1" "50" "1" "94496509" "94496509" "subst" "0.00475243" "04536" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94030953C>T" "" "VUS" "ACMG"
"0000932153" "0" "50" "1" "94543389" "94543389" "subst" "0.000861235" "04536" "ABCA4_000312" "g.94543389C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94077833C>T" "" "VUS" "ACMG"
"0000932154" "1" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "04536" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" "ACMG"
"0000932155" "1" "90" "1" "94526212" "94526212" "subst" "1.22012E-5" "04536" "ABCA4_000075" "g.94526212G>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94060656G>A" "" "pathogenic (recessive)" "ACMG"
"0000932156" "1" "90" "1" "94517254" "94517254" "subst" "0.00442654" "04536" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[2588G>C;5603A>T]" "" "Germline" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" "ACMG"
"0000932157" "1" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "04536" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" "ACMG"
"0000932158" "1" "90" "1" "94528806" "94528806" "subst" "0.000150298" "04536" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[1622T>C;3113C>T]" "" "Germline" "" "" "0" "" "" "g.94063250A>G" "" "pathogenic (recessive)" "ACMG"
"0000932159" "1" "90" "1" "94484082" "94484082" "subst" "0" "04536" "ABCA4_000028" "g.94484082T>C" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94018526T>C" "" "pathogenic (recessive)" "ACMG"
"0000932160" "1" "50" "1" "94564531" "94564531" "subst" "8.3561E-6" "04536" "ABCA4_000986" "g.94564531G>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94098975G>A" "" "VUS" "ACMG"
"0000932161" "3" "90" "1" "94528806" "94528806" "subst" "0.000150298" "04536" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[1622T>C;3113C>T]" "" "Germline" "" "" "0" "" "" "g.94063250A>G" "" "pathogenic (recessive)" "ACMG"
"0000932162" "1" "90" "1" "94496571" "94496571" "subst" "4.06174E-6" "04536" "ABCA4_000111" "g.94496571G>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94031015G>A" "" "pathogenic (recessive)" "ACMG"
"0000932163" "1" "90" "1" "94526296" "94526296" "subst" "1.64555E-5" "04536" "ABCA4_000768" "g.94526296G>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94060740G>A" "" "pathogenic (recessive)" "ACMG"
"0000932164" "0" "90" "1" "94484082" "94484082" "subst" "0" "04536" "ABCA4_000028" "g.94484082T>C" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94018526T>C" "" "pathogenic (recessive)" "ACMG"
"0000932165" "1" "90" "1" "94546248" "94546248" "del" "2.03666E-5" "04536" "ABCA4_000352" "g.94546248del" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94080692del" "" "pathogenic (recessive)" "ACMG"
"0000932166" "1" "90" "1" "94476951" "94476951" "subst" "0.000236097" "04536" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[5461-10T>C;5603A>T]" "" "Germline" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" "ACMG"
"0000932167" "1" "90" "1" "94476951" "94476951" "subst" "0.000236097" "04536" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[5461-10T>C;5603A>T]" "" "Germline" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" "ACMG"
"0000932168" "1" "90" "1" "94476951" "94476951" "subst" "0.000236097" "04536" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[5461-10T>C;5603A>T]" "" "Germline" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" "ACMG"
"0000932169" "1" "90" "1" "94486895" "94486895" "subst" "3.24923E-5" "04536" "ABCA4_000484" "g.94486895C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94021339C>T" "" "pathogenic (recessive)" "ACMG"
"0000932170" "1" "90" "1" "94473807" "94473807" "subst" "0.00480453" "04536" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" "ACMG"
"0000932171" "1" "90" "1" "94476951" "94476951" "subst" "0.000236097" "04536" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[5461-10T>C;5603A>T]" "" "Germline" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" "ACMG"
"0000932172" "1" "90" "1" "94528806" "94528806" "subst" "0.000150298" "04536" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[1622T>C;3113C>T]" "" "Germline" "" "" "0" "" "" "g.94063250A>G" "" "pathogenic (recessive)" "ACMG"
"0000932173" "1" "90" "1" "94586550" "94586550" "subst" "1.21864E-5" "04536" "ABCA4_000037" "g.94586550G>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94120994G>A" "" "pathogenic (recessive)" "ACMG"
"0000932174" "1" "50" "1" "94526157" "94526157" "subst" "0" "04536" "ABCA4_002577" "g.94526157G>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "novel variant" "Germline" "" "" "0" "" "" "g.94060601G>T" "" "VUS" "ACMG"
"0000932175" "1" "90" "1" "94517254" "94517254" "subst" "0.00442654" "04536" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[2588G>C;5603A>T]" "" "Germline" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" "ACMG"
"0000932176" "1" "90" "1" "94577046" "94577049" "dup" "0" "04536" "ABCA4_000227" "g.94577046_94577049dup" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94111490_94111493dup" "" "pathogenic (recessive)" "ACMG"
"0000932177" "1" "90" "1" "94526296" "94526296" "subst" "1.64555E-5" "04536" "ABCA4_000768" "g.94526296G>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94060740G>A" "" "pathogenic (recessive)" "ACMG"
"0000932178" "3" "90" "1" "94577010" "94577010" "subst" "1.22004E-5" "04536" "ABCA4_000224" "g.94577010T>C" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94111454T>C" "" "pathogenic (recessive)" "ACMG"
"0000932179" "1" "50" "1" "94473253" "94473253" "subst" "0" "04536" "ABCA4_001636" "g.94473253G>C" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94007697G>C" "" "VUS" "ACMG"
"0000932180" "1" "90" "1" "94473807" "94473807" "subst" "0.00480453" "04536" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" "ACMG"
"0000932181" "1" "50" "1" "94473253" "94473253" "subst" "0" "04536" "ABCA4_001636" "g.94473253G>C" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94007697G>C" "" "VUS" "ACMG"
"0000932182" "1" "70" "1" "94480175" "94480175" "subst" "0" "04536" "ABCA4_002562" "g.94480175A>C" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94014619A>C" "" "likely pathogenic (recessive)" "ACMG"
"0000932183" "1" "90" "1" "94476951" "94476951" "subst" "0.000236097" "04536" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[5461-10T>C;5603A>T]" "" "Germline" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" "ACMG"
"0000932184" "1" "90" "1" "94517216" "94517216" "subst" "0" "04536" "ABCA4_001429" "g.94517216G>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94051660G>A" "" "pathogenic (recessive)" "ACMG"
"0000932185" "1" "90" "1" "94476951" "94476951" "subst" "0.000236097" "04536" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[5461-10T>C;5603A>T]" "" "Germline" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" "ACMG"
"0000932186" "1" "90" "1" "94486870" "94486870" "del" "0" "04536" "ABCA4_000483" "g.94486870del" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94021314del" "" "pathogenic (recessive)" "ACMG"
"0000932187" "1" "30" "1" "94574258" "94574258" "subst" "0.00115728" "04536" "ABCA4_001132" "g.94574258T>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[317A>T;2875A>G]" "" "Germline" "yes" "" "0" "" "" "g.94108702T>A" "" "likely benign" "ACMG"
"0000932188" "3" "90" "1" "94473807" "94473807" "subst" "0.00480453" "04536" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" "ACMG"
"0000932189" "1" "90" "1" "94528806" "94528806" "subst" "0.000150298" "04536" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[1622T>C;3113C>T]" "" "Germline" "yes" "" "0" "" "" "g.94063250A>G" "" "pathogenic (recessive)" "ACMG"
"0000932190" "1" "90" "1" "94526265" "94526265" "subst" "0" "04536" "ABCA4_000143" "g.94526265C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94060709C>T" "" "pathogenic (recessive)" "ACMG"
"0000932191" "1" "90" "1" "94528806" "94528806" "subst" "0.000150298" "04536" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[1622T>C;3113C>T]" "" "Germline" "" "" "0" "" "" "g.94063250A>G" "" "pathogenic (recessive)" "ACMG"
"0000932192" "3" "90" "1" "94528251" "94528251" "subst" "2.84824E-5" "04536" "ABCA4_000281" "g.94528251C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94062695C>T" "" "pathogenic (recessive)" "ACMG"
"0000932193" "1" "90" "1" "94486896" "94486896" "subst" "3.65562E-5" "04536" "ABCA4_000085" "g.94486896G>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94021340G>A" "" "pathogenic (recessive)" "ACMG"
"0000932194" "1" "70" "1" "94546265" "94546265" "subst" "2.04063E-5" "04536" "ABCA4_000355" "g.94546265G>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94080709G>A" "" "likely pathogenic (recessive)" "ACMG"
"0000932195" "3" "70" "1" "94476890" "94476890" "subst" "4.06227E-6" "04536" "ABCA4_000434" "g.94476890G>C" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94011334G>C" "" "likely pathogenic (recessive)" "ACMG"
"0000932196" "1" "70" "1" "94480179" "94480179" "subst" "0" "04536" "ABCA4_000991" "g.94480179C>G" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94014623C>G" "" "likely pathogenic (recessive)" "ACMG"
"0000932197" "0" "50" "1" "94546163" "94546163" "subst" "0" "04536" "ABCA4_001321" "g.94546163A>G" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94080607A>G" "" "VUS" "ACMG"
"0000932198" "1" "50" "1" "94514466" "94514466" "subst" "0.00192081" "04536" "ABCA4_000008" "g.94514466T>C" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94048910T>C" "" "VUS" "ACMG"
"0000932199" "3" "50" "1" "94480208" "94480208" "subst" "8.12275E-6" "04536" "ABCA4_001013" "g.94480208A>C" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94014652A>C" "" "VUS" "ACMG"
"0000932200" "3" "90" "1" "94546299" "94546299" "subst" "0" "04536" "ABCA4_002405" "g.94546299T>C" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94080743T>C" "" "pathogenic (recessive)" "ACMG"
"0000932201" "1" "70" "1" "94510164" "94510164" "subst" "1.62441E-5" "04536" "ABCA4_000144" "g.94510164C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94044608C>T" "" "likely pathogenic (recessive)" "ACMG"
"0000932202" "3" "90" "1" "94546299" "94546299" "subst" "0" "04536" "ABCA4_002405" "g.94546299T>C" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94080743T>C" "" "pathogenic (recessive)" "ACMG"
"0000932203" "1" "90" "1" "94473807" "94473807" "subst" "0.00480453" "04536" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" "ACMG"
"0000932204" "1" "70" "1" "94488942" "94488942" "subst" "0" "04536" "ABCA4_001254" "g.94488942C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94023386C>T" "" "likely pathogenic (recessive)" "ACMG"
"0000932205" "1" "50" "1" "94496097" "94496119" "del" "0" "04536" "ABCA4_000557" "g.94496097_94496119del" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94030541_94030563del" "" "VUS" "ACMG"
"0000932206" "3" "90" "1" "94546299" "94546299" "subst" "0" "04536" "ABCA4_002405" "g.94546299T>C" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94080743T>C" "" "pathogenic (recessive)" "ACMG"
"0000932207" "3" "90" "1" "94546299" "94546299" "subst" "0" "04536" "ABCA4_002405" "g.94546299T>C" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94080743T>C" "" "pathogenic (recessive)" "ACMG"
"0000932208" "1" "90" "1" "94496666" "94496666" "subst" "0.000219568" "04536" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94031110G>A" "" "pathogenic (recessive)" "ACMG"
"0000932209" "3" "90" "1" "94546299" "94546299" "subst" "0" "04536" "ABCA4_002405" "g.94546299T>C" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94080743T>C" "" "pathogenic (recessive)" "ACMG"
"0000932210" "3" "90" "1" "94546299" "94546299" "subst" "0" "04536" "ABCA4_002405" "g.94546299T>C" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94080743T>C" "" "pathogenic (recessive)" "ACMG"
"0000932211" "1" "50" "1" "94508919" "94508919" "subst" "7.31707E-5" "04536" "ABCA4_000653" "g.94508919G>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94043363G>A" "" "VUS" "ACMG"
"0000932212" "1" "50" "1" "94577034" "94577034" "subst" "4.06441E-6" "04536" "ABCA4_002223" "g.94577034C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94111478C>T" "" "VUS" "ACMG"
"0000932213" "1" "90" "1" "94495078" "94495078" "subst" "8.37044E-6" "04536" "ABCA4_000042" "g.94495078A>G" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94029522A>G" "" "pathogenic (recessive)" "ACMG"
"0000932214" "1" "50" "1" "94487410" "94487410" "subst" "2.84257E-5" "04536" "ABCA4_001357" "g.94487410C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94021854C>T" "" "VUS" "ACMG"
"0000932215" "1" "90" "1" "94574244" "94574244" "del" "0" "04536" "ABCA4_002582" "g.94574244del" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94108688del" "" "pathogenic (recessive)" "ACMG"
"0000932216" "3" "90" "1" "94495083" "94495083" "subst" "0.000124542" "04536" "ABCA4_000542" "g.94495083G>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94029527G>A" "" "pathogenic (recessive)" "ACMG"
"0000932217" "1" "90" "1" "94512499" "94512499" "subst" "0.000130029" "04536" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94046943T>C" "" "pathogenic (recessive)" "ACMG"
"0000932218" "1" "90" "1" "94496666" "94496666" "subst" "0.000219568" "04536" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94031110G>A" "" "pathogenic (recessive)" "ACMG"
"0000932219" "0" "90" "1" "94574244" "94574244" "del" "0" "04536" "ABCA4_002582" "g.94574244del" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94108688del" "" "pathogenic (recessive)" "ACMG"
"0000932220" "1" "90" "1" "94495009" "94495009" "dup" "0" "04536" "ABCA4_000087" "g.94495009dup" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94029453dup" "" "pathogenic (recessive)" "ACMG"
"0000932221" "0" "90" "1" "94510164" "94510164" "subst" "1.62441E-5" "04536" "ABCA4_000144" "g.94510164C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94044608C>T" "" "pathogenic (recessive)" "ACMG"
"0000932222" "1" "50" "1" "94495123" "94495123" "subst" "0.000117967" "04536" "ABCA4_000544" "g.94495123G>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94029567G>T" "" "VUS" "ACMG"
"0000932223" "3" "90" "1" "94473807" "94473807" "subst" "0.00480453" "04536" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" "ACMG"
"0000932224" "1" "90" "1" "94486870" "94486870" "del" "0" "04536" "ABCA4_000483" "g.94486870del" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94021314del" "" "pathogenic (recessive)" "ACMG"
"0000932225" "1" "90" "1" "94528806" "94528806" "subst" "0.000150298" "04536" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[1622T>C;3113C>T]" "" "Germline" "" "" "0" "" "" "g.94063250A>G" "" "pathogenic (recessive)" "ACMG"
"0000932226" "1" "70" "1" "94497524" "94497525" "del" "0" "04536" "ABCA4_002570" "g.94497524_94497525del" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94031968_94031969del" "" "likely pathogenic (recessive)" "ACMG"
"0000932227" "1" "90" "1" "94528806" "94528806" "subst" "0.000150298" "04536" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[1622T>C;3113C>T]" "" "Germline" "" "" "0" "" "" "g.94063250A>G" "" "pathogenic (recessive)" "ACMG"
"0000932228" "1" "90" "1" "94528806" "94528806" "subst" "0.000150298" "04536" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[1622T>C;3113C>T]" "" "Germline" "" "" "0" "" "" "g.94063250A>G" "" "pathogenic (recessive)" "ACMG"
"0000932229" "0" "50" "1" "94543268" "94543268" "subst" "0.000778106" "04536" "ABCA4_000306" "g.94543268C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94077712C>T" "" "VUS" "ACMG"
"0000932230" "1" "90" "1" "94496666" "94496666" "subst" "0.000219568" "04536" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94031110G>A" "" "pathogenic (recessive)" "ACMG"
"0000932231" "0" "70" "1" "94520705" "94520705" "subst" "0" "04536" "ABCA4_000714" "g.94520705T>C" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94055149T>C" "" "likely pathogenic (recessive)" "ACMG"
"0000932232" "1" "50" "1" "94487251" "94487251" "subst" "2.85679E-5" "04536" "ABCA4_000490" "g.94487251G>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94021695G>T" "" "VUS" "ACMG"
"0000932233" "1" "90" "1" "94496666" "94496666" "subst" "0.000219568" "04536" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94031110G>A" "" "pathogenic (recessive)" "ACMG"
"0000932234" "1" "90" "1" "94508323" "94508323" "subst" "0.000125953" "04536" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" "ACMG"
"0000932235" "1" "90" "1" "94463488" "94463488" "subst" "5.2803E-5" "04536" "ABCA4_000802" "g.94463488G>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.93997932G>A" "" "pathogenic (recessive)" "ACMG"
"0000932236" "1" "90" "1" "94502760" "94502760" "subst" "4.0626E-6" "04536" "ABCA4_000599" "g.94502760C>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94037204C>A" "" "pathogenic (recessive)" "ACMG"
"0000932237" "1" "70" "1" "94543281" "94543281" "subst" "4.0661E-6" "04536" "ABCA4_000309" "g.94543281C>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94077725C>A" "" "likely pathogenic (recessive)" "ACMG"
"0000932238" "1" "50" "1" "94496509" "94496509" "subst" "0.00475243" "04536" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94030953C>T" "" "VUS" "ACMG"
"0000932239" "1" "90" "1" "94495177" "94495177" "subst" "1.22342E-5" "04536" "ABCA4_000023" "g.94495177A>G" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94029621A>G" "" "pathogenic (recessive)" "ACMG"
"0000932240" "1" "90" "1" "94496666" "94496666" "subst" "0.000219568" "04536" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94031110G>A" "" "pathogenic (recessive)" "ACMG"
"0000932241" "1" "90" "1" "94509026" "94509026" "subst" "4.06497E-5" "04536" "ABCA4_000660" "g.94509026G>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94043470G>A" "" "pathogenic (recessive)" "ACMG"
"0000932242" "1" "90" "1" "94577135" "94577135" "subst" "2.43718E-5" "04536" "ABCA4_000240" "g.94577135C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94111579C>T" "" "pathogenic (recessive)" "ACMG"
"0000932243" "1" "90" "1" "94495071" "94495071" "subst" "6.39479E-5" "04536" "ABCA4_000997" "g.94495071C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94029515C>T" "" "pathogenic (recessive)" "ACMG"
"0000932244" "1" "90" "1" "94496666" "94496666" "subst" "0.000219568" "04536" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94031110G>A" "" "pathogenic (recessive)" "ACMG"
"0000932245" "0" "50" "1" "94577111" "94577111" "subst" "0" "04536" "ABCA4_002230" "g.94577111G>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94111555G>A" "" "VUS" "ACMG"
"0000932246" "1" "70" "1" "94485221" "94485221" "subst" "0" "04536" "ABCA4_000471" "g.94485221G>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94019665G>A" "" "likely pathogenic (recessive)" "ACMG"
"0000932247" "1" "90" "1" "94509026" "94509026" "subst" "4.06497E-5" "04536" "ABCA4_000660" "g.94509026G>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94043470G>A" "" "pathogenic (recessive)" "ACMG"
"0000932248" "0" "70" "1" "94508969" "94508969" "subst" "0.00168642" "04536" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic (recessive)" "ACMG"
"0000932249" "1" "90" "1" "94492973" "94492973" "subst" "0" "04536" "ABCA4_000030" "g.94492973G>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94027417G>A" "" "pathogenic (recessive)" "ACMG"
"0000932250" "1" "50" "1" "94496509" "94496509" "subst" "0.00475243" "04536" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94030953C>T" "" "VUS" "ACMG"
"0000932251" "1" "90" "1" "94509026" "94509026" "subst" "4.06497E-5" "04536" "ABCA4_000660" "g.94509026G>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94043470G>A" "" "pathogenic (recessive)" "ACMG"
"0000932252" "1" "90" "1" "94508323" "94508323" "subst" "0.000125953" "04536" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" "ACMG"
"0000932253" "1" "90" "1" "94577135" "94577135" "subst" "2.43718E-5" "04536" "ABCA4_000240" "g.94577135C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94111579C>T" "" "pathogenic (recessive)" "ACMG"
"0000932254" "1" "70" "1" "94522157" "94522157" "dup" "0" "04536" "ABCA4_002575" "g.94522157dup" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "novel variant" "Germline" "" "" "0" "" "" "g.94056601dup" "" "likely pathogenic (recessive)" "ACMG"
"0000932255" "1" "70" "1" "94486857" "94486857" "subst" "0" "04536" "ABCA4_002564" "g.94486857C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "novel variant" "Germline" "" "" "0" "" "" "g.94021301C>T" "" "likely pathogenic (recessive)" "ACMG"
"0000932256" "1" "50" "1" "94508945" "94508945" "subst" "0" "04536" "ABCA4_000104" "g.94508945A>C" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94043389A>C" "" "VUS" "ACMG"
"0000932257" "1" "50" "1" "94514466" "94514466" "subst" "0.00192081" "04536" "ABCA4_000008" "g.94514466T>C" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94048910T>C" "" "VUS" "ACMG"
"0000932258" "1" "90" "1" "94496018" "94496018" "del" "0" "04536" "ABCA4_000551" "g.94496018del" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94030462del" "" "pathogenic (recessive)" "ACMG"
"0000932259" "1" "90" "1" "94508323" "94508323" "subst" "0.000125953" "04536" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" "ACMG"
"0000932260" "1" "90" "1" "94528164" "94528164" "subst" "2.03336E-5" "04536" "ABCA4_000267" "g.94528164G>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94062608G>A" "" "pathogenic (recessive)" "ACMG"
"0000932261" "1" "90" "1" "94476351" "94476351" "subst" "0.000296608" "04536" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94010795C>T" "" "pathogenic (recessive)" "ACMG"
"0000932262" "1" "90" "1" "94546299" "94546299" "subst" "0" "04536" "ABCA4_002405" "g.94546299T>C" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94080743T>C" "" "pathogenic (recessive)" "ACMG"
"0000932263" "1" "70" "1" "94528713" "94528713" "subst" "4.87381E-5" "04536" "ABCA4_000072" "g.94528713C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94063157C>T" "" "likely pathogenic (recessive)" "ACMG"
"0000932264" "1" "90" "1" "94506901" "94506901" "subst" "0.000308665" "04536" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" "ACMG"
"0000932265" "0" "90" "1" "94495071" "94495071" "subst" "6.39479E-5" "04536" "ABCA4_000997" "g.94495071C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94029515C>T" "" "pathogenic (recessive)" "ACMG"
"0000932266" "1" "90" "1" "94517254" "94517254" "subst" "0.00442654" "04536" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[2588G>C;5603A>T]" "" "Germline" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" "ACMG"
"0000932267" "1" "90" "1" "94476951" "94476951" "subst" "0.000236097" "04536" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[5461-10T>C;5603A>T]" "" "Germline" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" "ACMG"
"0000932268" "1" "90" "1" "94476951" "94476951" "subst" "0.000236097" "04536" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[5461-10T>C;5603A>T]" "" "Germline" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" "ACMG"
"0000932269" "1" "90" "1" "94528256" "94528256" "subst" "0" "04536" "ABCA4_002080" "g.94528256C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94062700C>T" "" "pathogenic (recessive)" "ACMG"
"0000932270" "3" "50" "1" "94510289" "94510289" "subst" "0.000150245" "04536" "ABCA4_001971" "g.94510289G>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94044733G>A" "" "VUS" "ACMG"
"0000932271" "0" "90" "1" "94492937" "94492937" "subst" "0" "04536" "ABCA4_000529" "g.94492937G>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94027381G>A" "" "pathogenic (recessive)" "ACMG"
"0000932272" "1" "90" "1" "94484082" "94484082" "subst" "0" "04536" "ABCA4_000028" "g.94484082T>C" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94018526T>C" "" "pathogenic (recessive)" "ACMG"
"0000932273" "1" "50" "1" "94476467" "94476467" "subst" "0.0424562" "04536" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000932274" "1" "50" "1" "94493037" "94493037" "subst" "0" "04536" "ABCA4_002567" "g.94493037C>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "novel variant" "Germline" "yes" "" "0" "" "" "g.94027481C>A" "" "VUS" "ACMG"
"0000932275" "1" "90" "1" "94497588" "94497588" "subst" "4.153E-6" "04536" "ABCA4_000049" "g.94497588G>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94032032G>A" "" "pathogenic (recessive)" "ACMG"
"0000932276" "1" "90" "1" "94508435" "94508436" "dup" "0" "04536" "ABCA4_000998" "g.94508435_94508436dup" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94042879_94042880dup" "" "pathogenic (recessive)" "ACMG"
"0000932277" "0" "50" "1" "94514466" "94514466" "subst" "0.00192081" "04536" "ABCA4_000008" "g.94514466T>C" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94048910T>C" "" "VUS" "ACMG"
"0000932278" "1" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "04536" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94062710G>A" "" "pathogenic (recessive)" "ACMG"
"0000932279" "1" "90" "1" "94544895" "94544895" "subst" "1.62455E-5" "04536" "ABCA4_000329" "g.94544895G>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94079339G>A" "" "pathogenic (recessive)" "ACMG"
"0000932280" "1" "90" "1" "94508455" "94508455" "subst" "8.12434E-6" "04536" "ABCA4_000649" "g.94508455C>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94042899C>A" "" "pathogenic (recessive)" "ACMG"
"0000932281" "1" "90" "1" "94484082" "94484082" "subst" "0" "04536" "ABCA4_000028" "g.94484082T>C" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94018526T>C" "" "pathogenic (recessive)" "ACMG"
"0000932282" "1" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "04536" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" "ACMG"
"0000932283" "1" "90" "1" "94495071" "94495071" "subst" "6.39479E-5" "04536" "ABCA4_000997" "g.94495071C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94029515C>T" "" "pathogenic (recessive)" "ACMG"
"0000932284" "1" "90" "1" "94517254" "94517254" "subst" "0.00442654" "04536" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[2588G>C;5603A>T]" "" "Germline" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" "ACMG"
"0000932285" "0" "70" "1" "94528713" "94528713" "subst" "4.87381E-5" "04536" "ABCA4_000072" "g.94528713C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94063157C>T" "" "likely pathogenic (recessive)" "ACMG"
"0000932286" "1" "70" "1" "94528713" "94528713" "subst" "4.87381E-5" "04536" "ABCA4_000072" "g.94528713C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94063157C>T" "" "likely pathogenic (recessive)" "ACMG"
"0000932287" "1" "90" "1" "94517254" "94517254" "subst" "0.00442654" "04536" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[2588G>C;5603A>T]" "" "Germline" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" "ACMG"
"0000932288" "1" "90" "1" "94517254" "94517254" "subst" "0.00442654" "04536" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[2588G>C;5603A>T]" "" "Germline" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" "ACMG"
"0000932289" "1" "90" "1" "94528806" "94528806" "subst" "0.000150298" "04536" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[1622T>C;3113C>T]" "" "Germline" "" "" "0" "" "" "g.94063250A>G" "" "pathogenic (recessive)" "ACMG"
"0000932290" "1" "50" "1" "94506935" "94506935" "subst" "0" "04536" "ABCA4_001466" "g.94506935G>C" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94041379G>C" "" "VUS" "ACMG"
"0000932291" "1" "90" "1" "94490567" "94490567" "subst" "5.68528E-5" "04536" "ABCA4_000026" "g.94490567G>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94025011G>A" "" "pathogenic (recessive)" "ACMG"
"0000932292" "1" "90" "1" "94496583" "94496583" "subst" "2.03092E-5" "04536" "ABCA4_000190" "g.94496583A>G" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94031027A>G" "" "pathogenic (recessive)" "ACMG"
"0000932293" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "04536" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94062710G>A" "" "pathogenic (recessive)" "ACMG"
"0000932294" "1" "90" "1" "94544185" "94544185" "subst" "8.12137E-6" "04536" "ABCA4_000177" "g.94544185C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94078629C>T" "" "pathogenic (recessive)" "ACMG"
"0000932295" "1" "90" "1" "94544185" "94544185" "subst" "8.12137E-6" "04536" "ABCA4_000177" "g.94544185C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94078629C>T" "" "pathogenic (recessive)" "ACMG"
"0000932296" "3" "90" "1" "94471065" "94471065" "subst" "0.000194997" "04536" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94005509G>A" "" "pathogenic (recessive)" "ACMG"
"0000932297" "1" "90" "1" "94564463" "94564463" "subst" "0" "04536" "ABCA4_000381" "g.94564463T>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94098907T>A" "" "pathogenic (recessive)" "ACMG"
"0000932298" "0" "70" "1" "94528713" "94528713" "subst" "4.87381E-5" "04536" "ABCA4_000072" "g.94528713C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94063157C>T" "" "likely pathogenic (recessive)" "ACMG"
"0000932299" "0" "90" "1" "94577135" "94577135" "subst" "2.43718E-5" "04536" "ABCA4_000240" "g.94577135C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94111579C>T" "" "pathogenic (recessive)" "ACMG"
"0000932300" "1" "90" "1" "94496666" "94496666" "subst" "0.000219568" "04536" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94031110G>A" "" "pathogenic (recessive)" "ACMG"
"0000932301" "1" "70" "1" "94543281" "94543281" "subst" "4.0661E-6" "04536" "ABCA4_000309" "g.94543281C>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94077725C>A" "" "likely pathogenic (recessive)" "ACMG"
"0000932302" "1" "90" "1" "94517254" "94517254" "subst" "0.00442654" "04536" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[2588G>C;5603A>T]" "" "Germline" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" "ACMG"
"0000932303" "1" "90" "1" "94517254" "94517254" "subst" "0.00442654" "04536" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[2588G>C;5603A>T]" "" "Germline" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" "ACMG"
"0000932304" "1" "90" "1" "94508322" "94508322" "subst" "1.62513E-5" "04536" "ABCA4_000128" "g.94508322C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94042766C>T" "" "pathogenic (recessive)" "ACMG"
"0000932305" "1" "90" "1" "94526212" "94526212" "subst" "1.22012E-5" "04536" "ABCA4_000075" "g.94526212G>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94060656G>A" "" "pathogenic (recessive)" "ACMG"
"0000932306" "1" "90" "1" "94490567" "94490567" "subst" "5.68528E-5" "04536" "ABCA4_000026" "g.94490567G>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94025011G>A" "" "pathogenic (recessive)" "ACMG"
"0000932307" "1" "90" "1" "94517254" "94517254" "subst" "0.00442654" "04536" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[2588G>C;5603A>T]" "" "Germline" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" "ACMG"
"0000932308" "1" "90" "1" "94577135" "94577135" "subst" "2.43718E-5" "04536" "ABCA4_000240" "g.94577135C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94111579C>T" "" "pathogenic (recessive)" "ACMG"
"0000932309" "1" "90" "1" "94577135" "94577135" "subst" "2.43718E-5" "04536" "ABCA4_000240" "g.94577135C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94111579C>T" "" "pathogenic (recessive)" "ACMG"
"0000932310" "3" "90" "1" "94577135" "94577135" "subst" "2.43718E-5" "04536" "ABCA4_000240" "g.94577135C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94111579C>T" "" "pathogenic (recessive)" "ACMG"
"0000932311" "1" "90" "1" "94577135" "94577135" "subst" "2.43718E-5" "04536" "ABCA4_000240" "g.94577135C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94111579C>T" "" "pathogenic (recessive)" "ACMG"
"0000932312" "1" "50" "1" "94528253" "94528253" "subst" "8.13729E-6" "04536" "ABCA4_000767" "g.94528253C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94062697C>T" "" "VUS" "ACMG"
"0000932313" "1" "70" "1" "94564430" "94564430" "subst" "0" "04536" "ABCA4_000376" "g.94564430A>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94098874A>T" "" "likely pathogenic (recessive)" "ACMG"
"0000932314" "1" "50" "1" "94568627" "94568627" "subst" "0.000422314" "04536" "ABCA4_000207" "g.94568627C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94103071C>T" "" "VUS" "ACMG"
"0000932315" "3" "90" "1" "94466426" "94466426" "subst" "1.62433E-5" "04536" "ABCA4_000124" "g.94466426G>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94000870G>A" "" "pathogenic (recessive)" "ACMG"
"0000932316" "1" "90" "1" "94544209" "94544209" "subst" "0" "04536" "ABCA4_000113" "g.94544209C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94078653C>T" "" "pathogenic (recessive)" "ACMG"
"0000932317" "1" "90" "1" "94473807" "94473807" "subst" "0.00480453" "04536" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" "ACMG"
"0000932318" "1" "90" "1" "94466455" "94466455" "subst" "0.000174618" "04536" "ABCA4_001201" "g.94466455C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "novel variant" "Germline" "yes" "" "0" "" "" "g.94000899C>T" "" "pathogenic (recessive)" "ACMG"
"0000932319" "1" "90" "1" "94473807" "94473807" "subst" "0.00480453" "04536" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" "ACMG"
"0000932320" "3" "90" "1" "94473278" "94473278" "del" "3.25908E-5" "04536" "ABCA4_000392" "g.94473278del" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94007722del" "" "pathogenic (recessive)" "ACMG"
"0000932321" "1" "70" "1" "94522275" "94522275" "subst" "0" "04536" "ABCA4_002576" "g.94522275A>G" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "novel variant" "Germline" "" "" "0" "" "" "g.94056719A>G" "" "likely pathogenic (recessive)" "ACMG"
"0000932322" "1" "90" "1" "94564484" "94564484" "subst" "0.000110199" "04536" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94098928G>A" "" "pathogenic (recessive)" "ACMG"
"0000932323" "1" "90" "1" "94528265" "94528265" "subst" "2.44212E-5" "04536" "ABCA4_000284" "g.94528265C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94062709C>T" "" "pathogenic (recessive)" "ACMG"
"0000932324" "0" "70" "1" "94512602" "94512602" "subst" "0.000369717" "04536" "ABCA4_000052" "g.94512602C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94047046C>T" "" "likely pathogenic (recessive)" "ACMG"
"0000932325" "1" "90" "1" "94486920" "94486920" "dup" "0" "04536" "ABCA4_001019" "g.94486920dup" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.4895dupA" "" "Germline" "" "" "0" "" "" "g.94021364dup" "" "pathogenic (recessive)" "ACMG"
"0000932326" "1" "90" "1" "94496666" "94496666" "subst" "0.000219568" "04536" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94031110G>A" "" "pathogenic (recessive)" "ACMG"
"0000932327" "1" "90" "1" "94528806" "94528806" "subst" "0.000150298" "04536" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94063250A>G" "" "pathogenic (recessive)" "ACMG"
"0000932328" "1" "70" "1" "94528224" "94528224" "subst" "0" "04536" "ABCA4_000275" "g.94528224C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94062668C>T" "" "likely pathogenic (recessive)" "ACMG"
"0000932329" "1" "90" "1" "94496666" "94496666" "subst" "0.000219568" "04536" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94031110G>A" "" "pathogenic (recessive)" "ACMG"
"0000932330" "1" "90" "1" "94490550" "94490550" "subst" "0.000105588" "04536" "ABCA4_000523" "g.94490550C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94024994C>T" "" "pathogenic (recessive)" "ACMG"
"0000932331" "1" "70" "1" "94510164" "94510164" "subst" "1.62441E-5" "04536" "ABCA4_000144" "g.94510164C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94044608C>T" "" "likely pathogenic (recessive)" "ACMG"
"0000932332" "1" "90" "1" "94496666" "94496666" "subst" "0.000219568" "04536" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94031110G>A" "" "pathogenic (recessive)" "ACMG"
"0000932333" "1" "90" "1" "94486896" "94486896" "subst" "3.65562E-5" "04536" "ABCA4_000085" "g.94486896G>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94021340G>A" "" "pathogenic (recessive)" "ACMG"
"0000932334" "1" "90" "1" "94496666" "94496666" "subst" "0.000219568" "04536" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94031110G>A" "" "pathogenic (recessive)" "ACMG"
"0000932335" "3" "70" "1" "94480179" "94480179" "subst" "0" "04536" "ABCA4_000991" "g.94480179C>G" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94014623C>G" "" "likely pathogenic (recessive)" "ACMG"
"0000932336" "1" "50" "1" "94577034" "94577034" "subst" "4.06441E-6" "04536" "ABCA4_002223" "g.94577034C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94111478C>T" "" "VUS" "ACMG"
"0000932337" "1" "90" "1" "94528236" "94528236" "subst" "0" "04536" "ABCA4_000276" "g.94528236G>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94062680G>A" "" "pathogenic (recessive)" "ACMG"
"0000932338" "1" "90" "1" "94526092" "94526092" "subst" "0" "04536" "ABCA4_000749" "g.94526092C>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94060536C>A" "" "pathogenic (recessive)" "ACMG"
"0000932339" "1" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "04536" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" "ACMG"
"0000932340" "1" "90" "1" "94476951" "94476951" "subst" "0.000236097" "04536" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[5461-10T>C;5603A>T]" "" "Germline" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" "ACMG"
"0000932341" "1" "50" "1" "94548847" "94557516" "dup" "0" "04536" "ABCA4_002580" "g.94548847_94557516dup" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "novel variant" "Germline" "" "" "0" "" "" "g.94083291_94091960dup" "" "VUS" "ACMG"
"0000932342" "1" "90" "1" "94473807" "94473807" "subst" "0.00480453" "04536" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" "ACMG"
"0000932343" "1" "50" "1" "94526295" "94526295" "subst" "0" "04536" "ABCA4_001347" "g.94526295C>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94060739C>A" "" "VUS" "ACMG"
"0000932344" "3" "90" "1" "94546299" "94546299" "subst" "0" "04536" "ABCA4_002405" "g.94546299T>C" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "novel variant" "Germline" "yes" "" "0" "" "" "g.94080743T>C" "" "pathogenic (recessive)" "ACMG"
"0000932345" "3" "70" "1" "94546265" "94546265" "subst" "2.04063E-5" "04536" "ABCA4_000355" "g.94546265G>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94080709G>A" "" "likely pathogenic (recessive)" "ACMG"
"0000932346" "1" "50" "1" "94506838" "94506840" "del" "0" "04536" "ABCA4_000615" "g.94506838_94506840del" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94041282_94041284del" "" "VUS" "ACMG"
"0000932347" "1" "50" "1" "94526295" "94526295" "subst" "0" "04536" "ABCA4_001347" "g.94526295C>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94060739C>A" "" "VUS" "ACMG"
"0000932348" "1" "90" "1" "94546299" "94546299" "subst" "0" "04536" "ABCA4_002405" "g.94546299T>C" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "novel variant" "Germline" "yes" "" "0" "" "" "g.94080743T>C" "" "pathogenic (recessive)" "ACMG"
"0000932349" "0" "30" "1" "94549781" "94549781" "subst" "0" "04536" "ABCA4_001046" "g.94549781G>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94084225G>A" "" "likely benign" "ACMG"
"0000932350" "1" "90" "1" "94517254" "94517254" "subst" "0.00442654" "04536" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[2588G>C;5603A>T]" "" "Germline" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" "ACMG"
"0000932351" "1" "90" "1" "94476951" "94476951" "subst" "0.000236097" "04536" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[5461-10T>C;5603A>T]" "" "Germline" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" "ACMG"
"0000932352" "1" "90" "1" "94476951" "94476951" "subst" "0.000236097" "04536" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[5461-10T>C;5603A>T]" "" "Germline" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" "ACMG"
"0000932353" "1" "90" "1" "94476865" "94476865" "subst" "2.03107E-5" "04536" "ABCA4_000430" "g.94476865A>G" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94011309A>G" "" "pathogenic (recessive)" "ACMG"
"0000932354" "1" "90" "1" "94476951" "94476951" "subst" "0.000236097" "04536" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[5461-10T>C;5603A>T]" "" "Germline" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" "ACMG"
"0000932355" "1" "90" "1" "94476951" "94476951" "subst" "0.000236097" "04536" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[5461-10T>C;5603A>T]" "" "Germline" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" "ACMG"
"0000932356" "0" "50" "1" "94543389" "94543389" "subst" "0.000861235" "04536" "ABCA4_000312" "g.94543389C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94077833C>T" "" "VUS" "ACMG"
"0000932357" "1" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "04536" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" "ACMG"
"0000932358" "1" "90" "1" "94476951" "94476951" "subst" "0.000236097" "04536" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[5461-10T>C;5603A>T]" "" "Germline" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" "ACMG"
"0000932359" "1" "90" "1" "94517254" "94517254" "subst" "0.00442654" "04536" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[2588G>C;5603A>T]" "" "Germline" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" "ACMG"
"0000932360" "1" "70" "1" "94565946" "94572939" "del" "0" "04536" "ABCA4_002581" "g.94565946_94572939del" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "novel variant" "Germline" "" "" "0" "" "" "g.94100390_94107383del" "" "likely pathogenic (recessive)" "ACMG"
"0000932361" "1" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "04536" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" "ACMG"
"0000932362" "1" "90" "1" "94496666" "94496666" "subst" "0.000219568" "04536" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94031110G>A" "" "pathogenic (recessive)" "ACMG"
"0000932363" "1" "90" "1" "94517254" "94517254" "subst" "0.00442654" "04536" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[2588G>C;5603A>T]" "" "Germline" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" "ACMG"
"0000932364" "1" "90" "1" "94528248" "94528248" "subst" "1.22148E-5" "04536" "ABCA4_000279" "g.94528248A>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94062692A>T" "" "pathogenic (recessive)" "ACMG"
"0000932365" "1" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "04536" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" "ACMG"
"0000932366" "1" "90" "1" "94517254" "94517254" "subst" "0.00442654" "04536" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[2588G>C;5603A>T]" "" "Germline" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" "ACMG"
"0000932367" "1" "70" "1" "94546261" "94546261" "subst" "0.000648567" "04536" "ABCA4_000353" "g.94546261G>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94080705G>A" "" "likely pathogenic (recessive)" "ACMG"
"0000932368" "1" "50" "1" "94543389" "94543389" "subst" "0.000861235" "04536" "ABCA4_000312" "g.94543389C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94077833C>T" "" "VUS" "ACMG"
"0000932369" "1" "90" "1" "94497588" "94497588" "subst" "4.153E-6" "04536" "ABCA4_000049" "g.94497588G>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94032032G>A" "" "pathogenic (recessive)" "ACMG"
"0000932370" "1" "90" "1" "94517254" "94517254" "subst" "0.00442654" "04536" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[2588G>C;5603A>T]" "" "Germline" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" "ACMG"
"0000932371" "1" "50" "1" "94487446" "94487448" "del" "0" "04536" "ABCA4_002566" "g.94487446_94487448del" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94021890_94021892del" "" "VUS" "ACMG"
"0000932372" "1" "70" "1" "94546261" "94546261" "subst" "0.000648567" "04536" "ABCA4_000353" "g.94546261G>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94080705G>A" "" "likely pathogenic (recessive)" "ACMG"
"0000932373" "1" "90" "1" "94517254" "94517254" "subst" "0.00442654" "04536" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[2588G>C;5603A>T]" "" "Germline" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" "ACMG"
"0000932374" "1" "90" "1" "94568671" "94568671" "subst" "0" "04536" "ABCA4_000947" "g.94568671A>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94103115A>T" "" "pathogenic (recessive)" "ACMG"
"0000932375" "1" "90" "1" "94508386" "94508386" "subst" "1.62443E-5" "04536" "ABCA4_000642" "g.94508386C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94042830C>T" "" "pathogenic (recessive)" "ACMG"
"0000932376" "3" "50" "1" "94476467" "94476467" "subst" "0.0424562" "04536" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000932377" "2" "90" "1" "94476951" "94476951" "subst" "0.000236097" "04536" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[5461-10T>C;5603A>T]" "" "Germline" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" "ACMG"
"0000932378" "2" "50" "1" "94476467" "94476467" "subst" "0.0424562" "04536" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000932379" "1" "90" "1" "94473807" "94473807" "subst" "0.00480453" "04536" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[769-784C>T;5882G>A]" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" "ACMG"
"0000932380" "0" "90" "1" "94476865" "94476865" "subst" "2.03107E-5" "04536" "ABCA4_000430" "g.94476865A>G" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94011309A>G" "" "pathogenic (recessive)" "ACMG"
"0000932381" "1" "50" "1" "94476467" "94476467" "subst" "0.0424562" "04536" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[2588G>C;5603A>T]" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000932382" "0" "70" "1" "94512590" "94512592" "del" "0" "04536" "ABCA4_002573" "g.94512590_94512592del" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94047034_94047036del" "" "likely pathogenic (recessive)" "ACMG"
"0000932383" "2" "90" "1" "94487401" "94487401" "subst" "4.06085E-6" "04536" "ABCA4_000995" "g.94487401C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94021845C>T" "" "pathogenic (recessive)" "ACMG"
"0000932384" "2" "50" "1" "94476467" "94476467" "subst" "0.0424562" "04536" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[2588G>C;5603A>T]" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000932385" "2" "90" "1" "94517254" "94517254" "subst" "0.00442654" "04536" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[2588G>C;5603A>T]" "" "Germline" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" "ACMG"
"0000932386" "1" "50" "1" "94496039" "94496039" "subst" "0.00157963" "04536" "ABCA4_000552" "g.94496039C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[1853G>A;4297G>A]" "" "Germline" "" "" "0" "" "" "g.94030483C>T" "" "VUS" "ACMG"
"0000932387" "2" "50" "1" "94476467" "94476467" "subst" "0.0424562" "04536" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[5461-10T>C;5603A>T]" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000932388" "2" "90" "1" "94476951" "94476951" "subst" "0.000236097" "04536" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[5461-10T>C;5603A>T]" "" "Germline" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" "ACMG"
"0000932389" "1" "50" "1" "94564462" "94564462" "subst" "4.06775E-5" "04536" "ABCA4_000380" "g.94564462C>G" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94098906C>G" "" "VUS" "ACMG"
"0000932390" "2" "50" "1" "94476467" "94476467" "subst" "0.0424562" "04536" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[2588G>C;5603A>T]" "" "Germline" "yes" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000932391" "2" "90" "1" "94517254" "94517254" "subst" "0.00442654" "04536" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[2588G>C;5603A>T]" "" "Germline" "yes" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" "ACMG"
"0000932392" "2" "90" "1" "94471065" "94471065" "subst" "0.000194997" "04536" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94005509G>A" "" "pathogenic (recessive)" "ACMG"
"0000932393" "2" "90" "1" "94495009" "94495009" "dup" "0" "04536" "ABCA4_000087" "g.94495009dup" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94029453dup" "" "pathogenic (recessive)" "ACMG"
"0000932394" "1" "50" "1" "94502906" "94502906" "subst" "0.000314086" "04536" "ABCA4_000605" "g.94502906C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94037350C>T" "" "VUS" "ACMG"
"0000932395" "2" "90" "1" "94495009" "94495009" "del" "0" "04536" "ABCA4_000534" "g.94495009del" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94029453del" "" "pathogenic (recessive)" "ACMG"
"0000932396" "2" "90" "1" "94467543" "94467543" "del" "0" "04536" "ABCA4_000955" "g.94467543del" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94001987del" "" "pathogenic (recessive)" "ACMG"
"0000932397" "2" "50" "1" "94476467" "94476467" "subst" "0.0424562" "04536" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000932398" "2" "70" "1" "94496580" "94496580" "subst" "0" "04536" "ABCA4_000564" "g.94496580T>C" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94031024T>C" "" "likely pathogenic (recessive)" "ACMG"
"0000932399" "1" "70" "1" "94508969" "94508969" "subst" "0.00168642" "04536" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[1622T>C;3113C>T]" "" "Germline" "" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic (recessive)" "ACMG"
"0000932400" "2" "70" "1" "94466417" "94466417" "subst" "0" "04536" "ABCA4_001200" "g.94466417C>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94000861C>A" "" "likely pathogenic (recessive)" "ACMG"
"0000932401" "3" "50" "1" "94476467" "94476467" "subst" "0.0424562" "04536" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000932402" "0" "70" "1" "94466624" "94466624" "subst" "0.0014345" "04536" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94001068C>T" "" "likely pathogenic (recessive)" "ACMG"
"0000932403" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "04536" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000932404" "2" "90" "1" "94486966" "94486966" "subst" "2.44021E-5" "04536" "ABCA4_001748" "g.94486966C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94021410C>T" "" "pathogenic (recessive)" "ACMG"
"0000932405" "1" "90" "1" "94473807" "94473807" "subst" "0.00480453" "04536" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[769-784C>T;5882G>A]" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" "ACMG"
"0000932406" "2" "90" "1" "94496666" "94496666" "subst" "0.000219568" "04536" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94031110G>A" "" "pathogenic (recessive)" "ACMG"
"0000932407" "2" "90" "1" "94471056" "94471056" "subst" "2.84398E-5" "04536" "ABCA4_000050" "g.94471056G>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94005500G>A" "" "pathogenic (recessive)" "ACMG"
"0000932408" "2" "90" "1" "94467517" "94467517" "subst" "0" "04536" "ABCA4_000786" "g.94467517A>C" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94001961A>C" "" "pathogenic (recessive)" "ACMG"
"0000932409" "1" "50" "1" "94476467" "94476467" "subst" "0.0424562" "04536" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[2888del;5603A>T]" "" "Germline" "yes" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000932410" "2" "90" "1" "94514536" "94514536" "subst" "0" "04536" "ABCA4_002574" "g.94514536T>G" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "novel variant" "Germline" "yes" "" "0" "" "" "g.94048980T>G" "" "pathogenic (recessive)" "ACMG"
"0000932411" "2" "50" "1" "94476467" "94476467" "subst" "0.0424562" "04536" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000932412" "2" "90" "1" "94508323" "94508323" "subst" "0.000125953" "04536" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" "ACMG"
"0000932413" "2" "70" "1" "94466455" "94466455" "subst" "0" "04536" "ABCA4_000165" "g.94466455C>G" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94000899C>G" "" "likely pathogenic (recessive)" "ACMG"
"0000932414" "2" "50" "1" "94476467" "94476467" "subst" "0.0424562" "04536" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000932415" "1" "50" "1" "94487404" "94487404" "subst" "0.00244055" "04536" "ABCA4_000497" "g.94487404C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[1792G>A;4771G>A]" "" "Germline" "yes" "" "0" "" "" "g.94021848C>T" "" "VUS" "ACMG"
"0000932416" "2" "90" "1" "94486836" "94486836" "del" "0" "04536" "ABCA4_000481" "g.94486836del" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94021280del" "" "pathogenic (recessive)" "ACMG"
"0000932417" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "04536" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" "ACMG"
"0000932418" "2" "50" "1" "94476467" "94476467" "subst" "0.0424562" "04536" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000932419" "2" "90" "1" "94517254" "94517254" "subst" "0.00442654" "04536" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" "ACMG"
"0000932420" "1" "70" "1" "94508969" "94508969" "subst" "0.00168642" "04536" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[1622T>C;3113C>T]" "" "Germline" "" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic (recessive)" "ACMG"
"0000932421" "2" "50" "1" "94476467" "94476467" "subst" "0.0424562" "04536" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000932422" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "04536" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000932423" "2" "90" "1" "94490550" "94490550" "subst" "0.000105588" "04536" "ABCA4_000523" "g.94490550C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94024994C>T" "" "pathogenic (recessive)" "ACMG"
"0000932424" "1" "70" "1" "94508969" "94508969" "subst" "0.00168642" "04536" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[1622T>C;3113C>T]" "" "Germline" "" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic (recessive)" "ACMG"
"0000932425" "2" "90" "1" "94517254" "94517254" "subst" "0.00442654" "04536" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" "ACMG"
"0000932426" "2" "90" "1" "94517254" "94517254" "subst" "0.00442654" "04536" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" "ACMG"
"0000932427" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "04536" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" "ACMG"
"0000932428" "2" "50" "1" "94502756" "94502756" "subst" "0.000422575" "04536" "ABCA4_000032" "g.94502756G>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94037200G>A" "" "VUS" "ACMG"
"0000932429" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "04536" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" "ACMG"
"0000932430" "0" "70" "1" "94496636" "94496636" "subst" "4.06296E-6" "04536" "ABCA4_000159" "g.94496636A>G" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94031080A>G" "" "likely pathogenic (recessive)" "ACMG"
"0000932431" "0" "90" "1" "94497392" "94497392" "subst" "0" "04536" "ABCA4_000577" "g.94497392G>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94031836G>A" "" "pathogenic (recessive)" "ACMG"
"0000932432" "1" "50" "1" "94476467" "94476467" "subst" "0.0424562" "04536" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[1522C>T;5603A>T]" "" "Germline" "yes" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000932433" "2" "90" "1" "94496581" "94496581" "subst" "0" "04536" "ABCA4_000565" "g.94496581C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94031025C>T" "" "pathogenic (recessive)" "ACMG"
"0000932434" "2" "90" "1" "94546283" "94546283" "subst" "8.18311E-5" "04536" "ABCA4_000356" "g.94546283A>G" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94080727A>G" "" "pathogenic (recessive)" "ACMG"
"0000932435" "1" "90" "1" "94473807" "94473807" "subst" "0.00480453" "04536" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[769-784C>T;5882G>A]" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" "ACMG"
"0000932436" "2" "90" "1" "94496666" "94496666" "subst" "0.000219568" "04536" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94031110G>A" "" "pathogenic (recessive)" "ACMG"
"0000932437" "2" "50" "1" "94476467" "94476467" "subst" "0.0424562" "04536" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[4594G>A;5603A>T]" "" "Germline" "yes" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000932438" "2" "90" "1" "94490550" "94490550" "subst" "0.000105588" "04536" "ABCA4_000523" "g.94490550C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[4594G>A;5603A>T]" "" "Germline" "yes" "" "0" "" "" "g.94024994C>T" "" "pathogenic (recessive)" "ACMG"
"0000932439" "1" "90" "1" "94486896" "94486896" "subst" "3.65562E-5" "04536" "ABCA4_000085" "g.94486896G>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[4222T>C;4918C>T]" "" "Germline" "" "" "0" "" "" "g.94021340G>A" "" "pathogenic (recessive)" "ACMG"
"0000932440" "2" "50" "1" "94476467" "94476467" "subst" "0.0424562" "04536" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000932441" "2" "50" "1" "94476383" "94476383" "subst" "4.0622E-6" "04536" "ABCA4_000413" "g.94476383A>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94010827A>T" "" "VUS" "ACMG"
"0000932442" "2" "90" "1" "94487402" "94487402" "subst" "2.43649E-5" "04536" "ABCA4_002379" "g.94487402C>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "novel variant" "Germline" "" "" "0" "" "" "g.94021846C>A" "" "pathogenic (recessive)" "ACMG"
"0000932443" "2" "50" "1" "94487251" "94487251" "subst" "2.85679E-5" "04536" "ABCA4_000490" "g.94487251G>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94021695G>T" "" "VUS" "ACMG"
"0000932444" "1" "70" "1" "94508969" "94508969" "subst" "0.00168642" "04536" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[1622T>C;3113C>T]" "" "Germline" "" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic (recessive)" "ACMG"
"0000932445" "2" "50" "1" "94496509" "94496509" "subst" "0.00475243" "04536" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94030953C>T" "" "VUS" "ACMG"
"0000932446" "2" "50" "1" "94476467" "94476467" "subst" "0.0424562" "04536" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000932447" "2" "50" "1" "94476467" "94476467" "subst" "0.0424562" "04536" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[2588G>C;5603A>T]" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000932448" "2" "90" "1" "94517254" "94517254" "subst" "0.00442654" "04536" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[2588G>C;5603A>T]" "" "Germline" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" "ACMG"
"0000932449" "1" "70" "1" "94466624" "94466624" "subst" "0.0014345" "04536" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94001068C>T" "" "likely pathogenic (recessive)" "ACMG"
"0000932450" "2" "50" "1" "94511074" "94511074" "subst" "0" "04536" "ABCA4_002572" "g.94511074T>C" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "novel variant" "Germline" "" "" "0" "" "" "g.94045518T>C" "" "VUS" "ACMG"
"0000932451" "2" "50" "1" "94577530" "94577530" "subst" "0" "04536" "ABCA4_002453" "g.94577530C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "novel variant" "Germline" "" "" "0" "" "" "g.94111974C>T" "" "VUS" "ACMG"
"0000932452" "2" "90" "1" "94473266" "94473266" "subst" "8.14677E-6" "04536" "ABCA4_000389" "g.94473266C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94007710C>T" "" "pathogenic (recessive)" "ACMG"
"0000932453" "2" "90" "1" "94473231" "94473234" "del" "0" "04536" "ABCA4_000387" "g.94473231_94473234del" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94007675_94007678del" "" "pathogenic (recessive)" "ACMG"
"0000932454" "2" "50" "1" "94473236" "94473236" "subst" "0" "04536" "ABCA4_001484" "g.94473236C>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94007680C>A" "" "VUS" "ACMG"
"0000932455" "2" "90" "1" "94508386" "94508386" "subst" "1.62443E-5" "04536" "ABCA4_000642" "g.94508386C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94042830C>T" "" "pathogenic (recessive)" "ACMG"
"0000932456" "2" "90" "1" "94495186" "94495186" "subst" "0" "04536" "ABCA4_001817" "g.94495186C>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94029630C>A" "" "pathogenic (recessive)" "ACMG"
"0000932457" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "04536" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000932458" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "04536" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" "ACMG"
"0000932459" "2" "50" "1" "94476467" "94476467" "subst" "0.0424562" "04536" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000932460" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "04536" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" "ACMG"
"0000932461" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "04536" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" "ACMG"
"0000932462" "2" "70" "1" "94487059" "94488435" "del" "0" "04536" "ABCA4_002565" "g.94487059_94488435del" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94021503_94022879del" "" "likely pathogenic (recessive)" "ACMG"
"0000932463" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "04536" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" "ACMG"
"0000932464" "2" "90" "1" "94471056" "94471056" "subst" "2.84398E-5" "04536" "ABCA4_000050" "g.94471056G>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94005500G>A" "" "pathogenic (recessive)" "ACMG"
"0000932465" "2" "90" "1" "94473231" "94473234" "del" "0" "04536" "ABCA4_000387" "g.94473231_94473234del" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94007675_94007678del" "" "pathogenic (recessive)" "ACMG"
"0000932466" "2" "50" "1" "94473236" "94473236" "subst" "0" "04536" "ABCA4_001484" "g.94473236C>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94007680C>A" "" "VUS" "ACMG"
"0000932467" "2" "90" "1" "94502295" "94502295" "subst" "0" "04536" "ABCA4_000589" "g.94502295C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94036739C>T" "" "pathogenic (recessive)" "ACMG"
"0000932468" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "04536" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" "ACMG"
"0000932469" "2" "50" "1" "94497470" "94497471" "ins" "0" "04536" "ABCA4_002569" "g.94497470_94497471insACTCTGGCTCTGGGGTAGGCTGGC" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "novel variant" "Germline" "" "" "0" "" "" "g.94031914_94031915insACTCTGGCTCTGGGGTAGGCTGGC" "" "VUS" "ACMG"
"0000932470" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "04536" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" "ACMG"
"0000932471" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "04536" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" "ACMG"
"0000932472" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "04536" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" "ACMG"
"0000932473" "0" "70" "1" "94463425" "94463425" "subst" "0.000109787" "04536" "ABCA4_000853" "g.94463425G>C" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.93997869G>C" "" "likely pathogenic (recessive)" "ACMG"
"0000932474" "2" "90" "1" "94476351" "94476351" "subst" "0.000296608" "04536" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94010795C>T" "" "pathogenic (recessive)" "ACMG"
"0000932475" "2" "70" "1" "94480146" "94480146" "subst" "2.84273E-5" "04536" "ABCA4_000122" "g.94480146T>C" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94014590T>C" "" "likely pathogenic (recessive)" "ACMG"
"0000932476" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "04536" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000932477" "2" "90" "1" "94543426" "94543426" "del" "0" "04536" "ABCA4_000314" "g.94543426del" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94077870del" "" "pathogenic (recessive)" "ACMG"
"0000932478" "2" "90" "1" "94476351" "94476351" "subst" "0.000296608" "04536" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94010795C>T" "" "pathogenic (recessive)" "ACMG"
"0000932479" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "04536" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" "ACMG"
"0000932480" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "04536" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" "ACMG"
"0000932481" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "04536" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" "ACMG"
"0000932482" "1" "70" "1" "94508969" "94508969" "subst" "0.00168642" "04536" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[1622T>C;3113C>T]" "" "Germline" "" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic (recessive)" "ACMG"
"0000932483" "2" "50" "1" "94476467" "94476467" "subst" "0.0424562" "04536" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[5461-10T>C;5603A>T]" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000932484" "2" "90" "1" "94476951" "94476951" "subst" "0.000236097" "04536" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[5461-10T>C;5603A>T]" "" "Germline" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" "ACMG"
"0000932485" "2" "90" "1" "94476351" "94476351" "subst" "0.000296608" "04536" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94010795C>T" "" "pathogenic (recessive)" "ACMG"
"0000932486" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "04536" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" "ACMG"
"0000932487" "2" "50" "1" "94476467" "94476467" "subst" "0.0424562" "04536" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000932488" "2" "50" "1" "94496509" "94496509" "subst" "0.00475243" "04536" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94030953C>T" "" "VUS" "ACMG"
"0000932489" "2" "50" "1" "94496509" "94496509" "subst" "0.00475243" "04536" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94030953C>T" "" "VUS" "ACMG"
"0000932490" "2" "50" "1" "94496509" "94496509" "subst" "0.00475243" "04536" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94030953C>T" "" "VUS" "ACMG"
"0000932491" "1" "50" "1" "94506838" "94506838" "subst" "1.21827E-5" "04536" "ABCA4_000616" "g.94506838C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94041282C>T" "" "VUS" "ACMG"
"0000932492" "2" "70" "1" "94466624" "94466624" "subst" "0.0014345" "04536" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94001068C>T" "" "likely pathogenic (recessive)" "ACMG"
"0000932493" "2" "90" "1" "94484001" "94484001" "subst" "0" "04536" "ABCA4_000016" "g.94484001C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94018445C>T" "" "pathogenic (recessive)" "ACMG"
"0000932494" "1" "50" "1" "94476467" "94476467" "subst" "0.0424562" "04536" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[2588G>C;5603A>T]" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000932495" "2" "90" "1" "94493000" "94493000" "subst" "0" "04536" "ABCA4_000015" "g.94493000C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94027444C>T" "" "pathogenic (recessive)" "ACMG"
"0000932496" "0" "90" "1" "94486794" "94486794" "subst" "0" "04536" "ABCA4_000479" "g.94486794A>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94021238A>T" "" "pathogenic (recessive)" "ACMG"
"0000932497" "0" "50" "1" "94496509" "94496509" "subst" "0.00475243" "04536" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94030953C>T" "" "VUS" "ACMG"
"0000932498" "0" "50" "1" "94461665" "94461665" "subst" "0" "04536" "ABCA4_002557" "g.94461665C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.93996109C>T" "" "VUS" "ACMG"
"0000932499" "2" "50" "1" "94476467" "94476467" "subst" "0.0424562" "04536" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000932500" "2" "90" "1" "94484001" "94484001" "subst" "0" "04536" "ABCA4_000016" "g.94484001C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94018445C>T" "" "pathogenic (recessive)" "ACMG"
"0000932501" "2" "50" "1" "94496509" "94496509" "subst" "0.00475243" "04536" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94030953C>T" "" "VUS" "ACMG"
"0000932502" "2" "50" "1" "94466499" "94466502" "del" "0" "04536" "ABCA4_002560" "g.94466499_94466502del" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94000943_94000946del" "" "VUS" "ACMG"
"0000932503" "0" "50" "1" "94487404" "94487404" "subst" "0.00244055" "04536" "ABCA4_000497" "g.94487404C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94021848C>T" "" "VUS" "ACMG"
"0000932504" "2" "90" "1" "94517254" "94517254" "subst" "0.00442654" "04536" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" "ACMG"
"0000932505" "1" "70" "1" "94508969" "94508969" "subst" "0.00168642" "04536" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[1622T>C;3113C>T]" "" "Germline" "" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic (recessive)" "ACMG"
"0000932506" "2" "50" "1" "94466982" "94466982" "subst" "0" "04536" "ABCA4_002561" "g.94466982G>C" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "novel variant" "Germline" "" "" "0" "" "" "g.94001426G>C" "" "VUS" "ACMG"
"0000932507" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "04536" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" "ACMG"
"0000932508" "2" "90" "1" "94484001" "94484001" "subst" "0" "04536" "ABCA4_000016" "g.94484001C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94018445C>T" "" "pathogenic (recessive)" "ACMG"
"0000932509" "2" "50" "1" "94476467" "94476467" "subst" "0.0424562" "04536" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000932510" "1" "90" "1" "94526230" "94526230" "subst" "7.32136E-5" "04536" "ABCA4_000760" "g.94526230C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94060674C>T" "" "pathogenic (recessive)" "ACMG"
"0000932511" "2" "70" "1" "94466408" "94466408" "subst" "0" "04536" "ABCA4_002559" "g.94466408G>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94000852G>A" "" "likely pathogenic (recessive)" "ACMG"
"0000932512" "0" "70" "1" "94466624" "94466624" "subst" "0.0014345" "04536" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94001068C>T" "" "likely pathogenic (recessive)" "ACMG"
"0000932513" "0" "90" "1" "94506923" "94506923" "subst" "2.43657E-5" "04536" "ABCA4_000012" "g.94506923C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94041367C>T" "" "pathogenic (recessive)" "ACMG"
"0000932514" "2" "70" "1" "94485247" "94485247" "subst" "4.07647E-5" "04536" "ABCA4_000475" "g.94485247C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94019691C>T" "" "likely pathogenic (recessive)" "ACMG"
"0000932515" "2" "70" "1" "94463399" "94463413" "del" "0" "04536" "ABCA4_000851" "g.94463399_94463413del" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.93997843_93997857del" "" "likely pathogenic (recessive)" "ACMG"
"0000932516" "2" "70" "1" "94466624" "94466624" "subst" "0.0014345" "04536" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94001068C>T" "" "likely pathogenic (recessive)" "ACMG"
"0000932517" "2" "90" "1" "94467460" "94467461" "del" "0" "04536" "ABCA4_000778" "g.94467460_94467461del" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94001904_94001905del" "" "pathogenic (recessive)" "ACMG"
"0000932518" "2" "50" "1" "94496509" "94496509" "subst" "0.00475243" "04536" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94030953C>T" "" "VUS" "ACMG"
"0000932519" "2" "90" "1" "94486896" "94486896" "subst" "3.65562E-5" "04536" "ABCA4_000085" "g.94486896G>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94021340G>A" "" "pathogenic (recessive)" "ACMG"
"0000932520" "2" "50" "1" "94577530" "94577530" "subst" "0" "04536" "ABCA4_002453" "g.94577530C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94111974C>T" "" "VUS" "ACMG"
"0000932521" "2" "50" "1" "94496509" "94496509" "subst" "0.00475243" "04536" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94030953C>T" "" "VUS" "ACMG"
"0000932522" "2" "90" "1" "94473298" "94473298" "del" "0" "04536" "ABCA4_000396" "g.94473298del" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94007742del" "" "pathogenic (recessive)" "ACMG"
"0000932523" "2" "50" "1" "94496509" "94496509" "subst" "0.00475243" "04536" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94030953C>T" "" "VUS" "ACMG"
"0000932524" "2" "90" "1" "94466426" "94466426" "subst" "1.62433E-5" "04536" "ABCA4_000124" "g.94466426G>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94000870G>A" "" "pathogenic (recessive)" "ACMG"
"0000932525" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "04536" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" "ACMG"
"0000932526" "0" "90" "1" "94466556" "94466556" "subst" "4.06164E-6" "04536" "ABCA4_000831" "g.94466556G>C" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94001000G>C" "" "pathogenic (recessive)" "ACMG"
"0000932527" "2" "90" "1" "94496571" "94496571" "subst" "4.06174E-6" "04536" "ABCA4_000111" "g.94496571G>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94031015G>A" "" "pathogenic (recessive)" "ACMG"
"0000932528" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "04536" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" "ACMG"
"0000932529" "1" "50" "1" "94476467" "94476467" "subst" "0.0424562" "04536" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[2588G>C;5603A>T]" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000932530" "2" "90" "1" "94486794" "94486794" "subst" "0" "04536" "ABCA4_000479" "g.94486794A>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94021238A>T" "" "pathogenic (recessive)" "ACMG"
"0000932531" "2" "90" "1" "94495181" "94495181" "subst" "0" "04536" "ABCA4_001816" "g.94495181G>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94029625G>T" "" "pathogenic (recessive)" "ACMG"
"0000932532" "1" "70" "1" "94508969" "94508969" "subst" "0.00168642" "04536" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[1622T>C;3113C>T]" "" "Germline" "" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic (recessive)" "ACMG"
"0000932533" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "04536" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" "ACMG"
"0000932534" "2" "50" "1" "94476467" "94476467" "subst" "0.0424562" "04536" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000932535" "3" "90" "1" "94473807" "94473807" "subst" "0.00480453" "04536" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" "ACMG"
"0000932536" "3" "70" "1" "94508969" "94508969" "subst" "0.00168642" "04536" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[1622T>C;3113C>T]" "" "Germline" "" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic (recessive)" "ACMG"
"0000932537" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "04536" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" "ACMG"
"0000932538" "2" "50" "1" "94466425" "94466425" "subst" "0" "04536" "ABCA4_000819" "g.94466425C>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94000869C>A" "" "VUS" "ACMG"
"0000932539" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "04536" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000932540" "0" "70" "1" "94463425" "94463425" "subst" "0.000109787" "04536" "ABCA4_000853" "g.94463425G>C" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.93997869G>C" "" "likely pathogenic (recessive)" "ACMG"
"0000932541" "2" "50" "1" "94476467" "94476467" "subst" "0.0424562" "04536" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000932542" "1" "50" "1" "94476467" "94476467" "subst" "0.0424562" "04536" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[5461-10T>C;5603A>T]" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000932543" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "04536" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" "ACMG"
"0000932544" "1" "50" "1" "94476467" "94476467" "subst" "0.0424562" "04536" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[5461-10T>C;5603A>T]" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000932545" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "04536" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" "ACMG"
"0000932546" "2" "70" "1" "94466624" "94466624" "subst" "0.0014345" "04536" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94001068C>T" "" "likely pathogenic (recessive)" "ACMG"
"0000932547" "1" "50" "1" "94476467" "94476467" "subst" "0.0424562" "04536" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[5461-10T>C;5603A>T]" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000932548" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "04536" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" "ACMG"
"0000932549" "2" "50" "1" "94466982" "94466982" "subst" "0" "04536" "ABCA4_002561" "g.94466982G>C" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "novel variant" "Germline" "" "" "0" "" "" "g.94001426G>C" "" "VUS" "ACMG"
"0000932550" "3" "50" "1" "94476467" "94476467" "subst" "0.0424562" "04536" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000932551" "1" "70" "1" "94508969" "94508969" "subst" "0.00168642" "04536" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[1622T>C;3113C>T]" "" "Germline" "" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic (recessive)" "ACMG"
"0000932552" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "04536" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" "ACMG"
"0000932553" "2" "70" "1" "94522386" "94522386" "subst" "0" "04536" "ABCA4_000746" "g.94522386C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94056830C>T" "" "likely pathogenic (recessive)" "ACMG"
"0000932554" "2" "90" "1" "94520793" "94520793" "subst" "8.13292E-6" "04536" "ABCA4_000723" "g.94520793A>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94055237A>T" "" "pathogenic (recessive)" "ACMG"
"0000932555" "1" "50" "1" "94476467" "94476467" "subst" "0.0424562" "04536" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[2588G>C;5603A>T]" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000932556" "2" "90" "1" "94495983" "94495983" "subst" "8.12348E-6" "04536" "ABCA4_000547" "g.94495983C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94030427C>T" "" "pathogenic (recessive)" "ACMG"
"0000932557" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "04536" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" "ACMG"
"0000932558" "2" "50" "1" "94476467" "94476467" "subst" "0.0424562" "04536" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000932559" "2" "90" "1" "94471055" "94471055" "subst" "0.00035346" "04536" "ABCA4_000029" "g.94471055C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94005499C>T" "" "pathogenic (recessive)" "ACMG"
"0000932560" "2" "90" "1" "94473231" "94473234" "del" "0" "04536" "ABCA4_000387" "g.94473231_94473234del" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94007675_94007678del" "" "pathogenic (recessive)" "ACMG"
"0000932561" "2" "50" "1" "94473236" "94473236" "subst" "0" "04536" "ABCA4_001484" "g.94473236C>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94007680C>A" "" "VUS" "ACMG"
"0000932562" "2" "90" "1" "94471055" "94471055" "subst" "0.00035346" "04536" "ABCA4_000029" "g.94471055C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94005499C>T" "" "pathogenic (recessive)" "ACMG"
"0000932563" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "04536" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" "ACMG"
"0000932564" "1" "50" "1" "94476467" "94476467" "subst" "0.0424562" "04536" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[5461-10T>C;5603A>T]" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000932565" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "04536" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" "ACMG"
"0000932566" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "04536" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" "ACMG"
"0000932567" "1" "50" "1" "94476467" "94476467" "subst" "0.0424562" "04536" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[5461-10T>C;5603A>T]" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000932568" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "04536" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" "ACMG"
"0000932569" "2" "90" "1" "94476351" "94476351" "subst" "0.000296608" "04536" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94010795C>T" "" "pathogenic (recessive)" "ACMG"
"0000932570" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "04536" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[2549A>G;4667+5G>T;5882G>A ]" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" "ACMG"
"0000932571" "1" "30" "1" "94512518" "94512518" "subst" "1.62517E-5" "04536" "ABCA4_000687" "g.94512518T>C" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[317A>T;2875A>G]" "" "Germline" "yes" "" "0" "" "" "g.94046962T>C" "" "likely benign" "ACMG"
"0000932572" "2" "70" "1" "94520705" "94520705" "subst" "0" "04536" "ABCA4_000714" "g.94520705T>C" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[2549A>G;4667+5G>T;5882G>A ]" "" "Germline" "yes" "" "0" "" "" "g.94055149T>C" "" "likely pathogenic (recessive)" "ACMG"
"0000932573" "2" "90" "1" "94488937" "94488937" "subst" "0" "04536" "ABCA4_002394" "g.94488937C>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[2549A>G;4667+5G>T;5882G>A ]" "novel variant" "Germline" "yes" "" "0" "" "" "g.94023381C>A" "" "pathogenic (recessive)" "ACMG"
"0000932574" "2" "70" "1" "94520705" "94520705" "subst" "0" "04536" "ABCA4_000714" "g.94520705T>C" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[2549A>G;4667+5G>T;5882G>A ]" "" "Germline" "yes" "" "0" "" "" "g.94055149T>C" "" "likely pathogenic (recessive)" "ACMG"
"0000932575" "2" "90" "1" "94488937" "94488937" "subst" "0" "04536" "ABCA4_002394" "g.94488937C>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[2549A>G;4667+5G>T;5882G>A ]" "novel variant" "Germline" "yes" "" "0" "" "" "g.94023381C>A" "" "pathogenic (recessive)" "ACMG"
"0000932576" "1" "70" "1" "94508969" "94508969" "subst" "0.00168642" "04536" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[1622T>C;3113C>T]" "" "Germline" "yes" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic (recessive)" "ACMG"
"0000932577" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "04536" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[2549A>G;4667+5G>T;5882G>A ]" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" "ACMG"
"0000932578" "2" "70" "1" "94520705" "94520705" "subst" "0" "04536" "ABCA4_000714" "g.94520705T>C" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[2549A>G;4667+5G>T;5882G>A ]" "" "Germline" "yes" "" "0" "" "" "g.94055149T>C" "" "likely pathogenic (recessive)" "ACMG"
"0000932579" "2" "90" "1" "94488937" "94488937" "subst" "0" "04536" "ABCA4_002394" "g.94488937C>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[2549A>G;4667+5G>T;5882G>A ]" "novel variant" "Germline" "yes" "" "0" "" "" "g.94023381C>A" "" "pathogenic (recessive)" "ACMG"
"0000932580" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "04536" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[2549A>G;4667+5G>T;5882G>A ]" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" "ACMG"
"0000932581" "2" "70" "1" "94520705" "94520705" "subst" "0" "04536" "ABCA4_000714" "g.94520705T>C" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[2549A>G;4667+5G>T;5882G>A ]" "" "Germline" "yes" "" "0" "" "" "g.94055149T>C" "" "likely pathogenic (recessive)" "ACMG"
"0000932582" "2" "90" "1" "94488937" "94488937" "subst" "0" "04536" "ABCA4_002394" "g.94488937C>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[2549A>G;4667+5G>T;5882G>A ]" "novel variant" "Germline" "yes" "" "0" "" "" "g.94023381C>A" "" "pathogenic (recessive)" "ACMG"
"0000932583" "1" "70" "1" "94508969" "94508969" "subst" "0.00168642" "04536" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[1622T>C;3113C>T]" "" "Germline" "" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic (recessive)" "ACMG"
"0000932584" "2" "50" "1" "94476467" "94476467" "subst" "0.0424562" "04536" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000932585" "3" "50" "1" "94476467" "94476467" "subst" "0.0424562" "04536" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000932586" "2" "70" "1" "94480179" "94480179" "subst" "0" "04536" "ABCA4_000991" "g.94480179C>G" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94014623C>G" "" "likely pathogenic (recessive)" "ACMG"
"0000932587" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "04536" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" "ACMG"
"0000932588" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "04536" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" "ACMG"
"0000932589" "2" "90" "1" "94480098" "94480098" "subst" "0" "04536" "ABCA4_000437" "g.94480098C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94014542C>T" "" "pathogenic (recessive)" "ACMG"
"0000932590" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "04536" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" "ACMG"
"0000932591" "0" "50" "1" "94502756" "94502756" "subst" "0.000422575" "04536" "ABCA4_000032" "g.94502756G>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94037200G>A" "" "VUS" "ACMG"
"0000932592" "2" "50" "1" "94476467" "94476467" "subst" "0.0424562" "04536" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000932593" "2" "50" "1" "94496509" "94496509" "subst" "0.00475243" "04536" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94030953C>T" "" "VUS" "ACMG"
"0000932594" "2" "90" "1" "94546299" "94546299" "subst" "0" "04536" "ABCA4_002405" "g.94546299T>C" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94080743T>C" "" "pathogenic (recessive)" "ACMG"
"0000932595" "2" "70" "1" "94488942" "94488942" "subst" "0" "04536" "ABCA4_001254" "g.94488942C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94023386C>T" "" "likely pathogenic (recessive)" "ACMG"
"0000932596" "2" "50" "1" "94476467" "94476467" "subst" "0.0424562" "04536" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000932597" "2" "50" "1" "94496509" "94496509" "subst" "0.00475243" "04536" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94030953C>T" "" "VUS" "ACMG"
"0000932598" "2" "50" "1" "94496509" "94496509" "subst" "0.00475243" "04536" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94030953C>T" "" "VUS" "ACMG"
"0000932599" "2" "70" "1" "94466657" "94466657" "subst" "0" "04536" "ABCA4_000843" "g.94466657T>C" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94001101T>C" "" "likely pathogenic (recessive)" "ACMG"
"0000932600" "2" "70" "1" "94466624" "94466624" "subst" "0.0014345" "04536" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94001068C>T" "" "likely pathogenic (recessive)" "ACMG"
"0000932601" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "04536" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" "ACMG"
"0000932602" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "04536" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000932603" "2" "90" "1" "94495083" "94495083" "subst" "0.000124542" "04536" "ABCA4_000542" "g.94495083G>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94029527G>A" "" "pathogenic (recessive)" "ACMG"
"0000932604" "2" "70" "1" "94486835" "94486835" "subst" "0" "04536" "ABCA4_001018" "g.94486835G>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94021279G>A" "" "likely pathogenic (recessive)" "ACMG"
"0000932605" "2" "90" "1" "94495083" "94495083" "subst" "0.000124542" "04536" "ABCA4_000542" "g.94495083G>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94029527G>A" "" "pathogenic (recessive)" "ACMG"
"0000932606" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "04536" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000932607" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "04536" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" "ACMG"
"0000932608" "2" "50" "1" "94502906" "94502906" "subst" "0.000314086" "04536" "ABCA4_000605" "g.94502906C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94037350C>T" "" "VUS" "ACMG"
"0000932609" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "04536" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" "ACMG"
"0000932610" "1" "90" "1" "94473807" "94473807" "subst" "0.00480453" "04536" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" "ACMG"
"0000932611" "0" "50" "1" "94502756" "94502756" "subst" "0.000422575" "04536" "ABCA4_000032" "g.94502756G>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94037200G>A" "" "VUS" "ACMG"
"0000932612" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "04536" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" "ACMG"
"0000932613" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "04536" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" "ACMG"
"0000932614" "1" "70" "1" "94508969" "94508969" "subst" "0.00168642" "04536" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[1622T>C;3113C>T]" "" "Germline" "" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic (recessive)" "ACMG"
"0000932615" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "04536" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" "ACMG"
"0000932616" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "04536" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" "ACMG"
"0000932617" "1" "70" "1" "94508969" "94508969" "subst" "0.00168642" "04536" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[1622T>C;3113C>T]" "" "Germline" "" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic (recessive)" "ACMG"
"0000932618" "2" "50" "1" "94476467" "94476467" "subst" "0.0424562" "04536" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000932619" "1" "70" "1" "94508969" "94508969" "subst" "0.00168642" "04536" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[1622T>C;3113C>T]" "" "Germline" "" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic (recessive)" "ACMG"
"0000932620" "2" "90" "1" "94485137" "94485137" "subst" "0" "04536" "ABCA4_000464" "g.94485137C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94019581C>T" "" "pathogenic (recessive)" "ACMG"
"0000932621" "2" "50" "1" "94476467" "94476467" "subst" "0.0424562" "04536" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[2852T>C;5603A>T]" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000932622" "1" "90" "1" "94473807" "94473807" "subst" "0.00480453" "04536" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" "ACMG"
"0000932623" "2" "70" "1" "94512541" "94512541" "subst" "0" "04536" "ABCA4_000066" "g.94512541A>G" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[2852T>C;5603A>T]" "" "Germline" "" "" "0" "" "" "g.94046985A>G" "" "likely pathogenic (recessive)" "ACMG"
"0000932624" "2" "50" "1" "94476467" "94476467" "subst" "0.0424562" "04536" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[5461-10T>C;5603A>T]" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000932625" "2" "90" "1" "94476951" "94476951" "subst" "0.000236097" "04536" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[5461-10T>C;5603A>T]" "" "Germline" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" "ACMG"
"0000932626" "1" "90" "1" "94473807" "94473807" "subst" "0.00480453" "04536" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" "ACMG"
"0000932627" "2" "90" "1" "94471046" "94471046" "subst" "0" "04536" "ABCA4_000793" "g.94471046A>C" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94005490A>C" "" "pathogenic (recessive)" "ACMG"
"0000932628" "2" "90" "1" "94508323" "94508323" "subst" "0.000125953" "04536" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" "ACMG"
"0000932629" "2" "90" "1" "94471065" "94471065" "subst" "0.000194997" "04536" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94005509G>A" "" "pathogenic (recessive)" "ACMG"
"0000932630" "2" "90" "1" "94496666" "94496666" "subst" "0.000219568" "04536" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94031110G>A" "" "pathogenic (recessive)" "ACMG"
"0000932631" "2" "50" "1" "94568590" "94568591" "delins" "0" "04536" "ABCA4_000205" "g.94568590_94568591delinsCG" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94103034_94103035delinsCG" "" "VUS" "ACMG"
"0000932632" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "04536" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000932633" "2" "90" "1" "94492973" "94492973" "subst" "0" "04536" "ABCA4_000030" "g.94492973G>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94027417G>A" "" "pathogenic (recessive)" "ACMG"
"0000932634" "2" "90" "1" "94496666" "94496666" "subst" "0.000219568" "04536" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94031110G>A" "" "pathogenic (recessive)" "ACMG"
"0000932635" "2" "90" "1" "94473278" "94473278" "del" "3.25908E-5" "04536" "ABCA4_000392" "g.94473278del" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94007722del" "" "pathogenic (recessive)" "ACMG"
"0000932636" "2" "90" "1" "94471065" "94471065" "subst" "0.000194997" "04536" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94005509G>A" "" "pathogenic (recessive)" "ACMG"
"0000932637" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "04536" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000932638" "2" "90" "1" "94495071" "94495071" "subst" "6.39479E-5" "04536" "ABCA4_000997" "g.94495071C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94029515C>T" "" "pathogenic (recessive)" "ACMG"
"0000932639" "2" "50" "1" "94466399" "94466399" "subst" "0" "04536" "ABCA4_002457" "g.94466399T>C" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94000843T>C" "" "VUS" "ACMG"
"0000932640" "2" "50" "1" "94476467" "94476467" "subst" "0.0424562" "04536" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[5461-10T>C;5603A>T]" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000932641" "2" "90" "1" "94476951" "94476951" "subst" "0.000236097" "04536" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[5461-10T>C;5603A>T]" "" "Germline" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" "ACMG"
"0000932642" "2" "50" "1" "94476467" "94476467" "subst" "0.0424562" "04536" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000932643" "0" "50" "1" "94487404" "94487404" "subst" "0.00244055" "04536" "ABCA4_000497" "g.94487404C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94021848C>T" "" "VUS" "ACMG"
"0000932644" "0" "50" "1" "94568675" "94568675" "subst" "0.00146249" "04536" "ABCA4_000210" "g.94568675T>C" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94103119T>C" "" "VUS" "ACMG"
"0000932645" "2" "90" "1" "94490567" "94490567" "subst" "5.68528E-5" "04536" "ABCA4_000026" "g.94490567G>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94025011G>A" "" "pathogenic (recessive)" "ACMG"
"0000932646" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "04536" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000932647" "0" "90" "1" "94471046" "94471046" "subst" "0" "04536" "ABCA4_000793" "g.94471046A>C" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94005490A>C" "" "pathogenic (recessive)" "ACMG"
"0000932648" "2" "90" "1" "94473266" "94473266" "subst" "8.14677E-6" "04536" "ABCA4_000389" "g.94473266C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94007710C>T" "" "pathogenic (recessive)" "ACMG"
"0000932649" "2" "90" "1" "94476351" "94476351" "subst" "0.000296608" "04536" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94010795C>T" "" "pathogenic (recessive)" "ACMG"
"0000932650" "0" "90" "1" "94486896" "94486896" "subst" "3.65562E-5" "04536" "ABCA4_000085" "g.94486896G>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94021340G>A" "" "pathogenic (recessive)" "ACMG"
"0000932651" "0" "90" "1" "94496583" "94496583" "subst" "2.03092E-5" "04536" "ABCA4_000190" "g.94496583A>G" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94031027A>G" "" "pathogenic (recessive)" "ACMG"
"0000932652" "2" "90" "1" "94466422" "94466422" "subst" "2.43651E-5" "04536" "ABCA4_000817" "g.94466422C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94000866C>T" "" "pathogenic (recessive)" "ACMG"
"0000932653" "2" "50" "1" "94486953" "94486953" "subst" "4.06468E-6" "04536" "ABCA4_002293" "g.94486953T>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94021397T>A" "" "VUS" "ACMG"
"0000932654" "2" "90" "1" "94508323" "94508323" "subst" "0.000125953" "04536" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" "ACMG"
"0000932655" "2" "90" "1" "94496666" "94496666" "subst" "0.000219568" "04536" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94031110G>A" "" "pathogenic (recessive)" "ACMG"
"0000932656" "2" "50" "1" "94520771" "94520771" "subst" "0" "04536" "ABCA4_002024" "g.94520771G>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94055215G>A" "" "VUS" "ACMG"
"0000932657" "2" "50" "1" "94476467" "94476467" "subst" "0.0424562" "04536" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000932658" "2" "70" "1" "94486857" "94486857" "subst" "0" "04536" "ABCA4_002564" "g.94486857C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "novel variant" "Germline" "" "" "0" "" "" "g.94021301C>T" "" "likely pathogenic (recessive)" "ACMG"
"0000932659" "2" "90" "1" "94508323" "94508323" "subst" "0.000125953" "04536" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" "ACMG"
"0000932660" "2" "50" "1" "94476467" "94476467" "subst" "0.0424562" "04536" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000932661" "0" "50" "1" "94568686" "94568686" "subst" "0.00258122" "04536" "ABCA4_000212" "g.94568686C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94103130C>T" "" "VUS" "ACMG"
"0000932662" "2" "50" "1" "94476467" "94476467" "subst" "0.0424562" "04536" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000932663" "2" "90" "1" "94490567" "94490567" "subst" "5.68528E-5" "04536" "ABCA4_000026" "g.94490567G>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94025011G>A" "" "pathogenic (recessive)" "ACMG"
"0000932664" "2" "50" "1" "94476467" "94476467" "subst" "0.0424562" "04536" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[5461-10T>C;5603A>T]" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000932665" "2" "90" "1" "94476951" "94476951" "subst" "0.000236097" "04536" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[5461-10T>C;5603A>T]" "" "Germline" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" "ACMG"
"0000932666" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "04536" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" "ACMG"
"0000932667" "0" "50" "1" "94564531" "94564531" "subst" "8.3561E-6" "04536" "ABCA4_000986" "g.94564531G>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94098975G>A" "" "VUS" "ACMG"
"0000932668" "2" "50" "1" "94508383" "94508383" "subst" "0" "04536" "ABCA4_001931" "g.94508383G>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94042827G>A" "" "VUS" "ACMG"
"0000932669" "1" "90" "1" "94508323" "94508323" "subst" "0.000125953" "04536" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" "ACMG"
"0000932670" "2" "50" "1" "94476467" "94476467" "subst" "0.0424562" "04536" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[2588G>C;5603A>T]" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000932671" "2" "90" "1" "94517254" "94517254" "subst" "0.00442654" "04536" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[2588G>C;5603A>T]" "" "Germline" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" "ACMG"
"0000932672" "2" "50" "1" "94476467" "94476467" "subst" "0.0424562" "04536" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000932673" "2" "90" "1" "94476951" "94476951" "subst" "0.000236097" "04536" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" "ACMG"
"0000932674" "0" "90" "1" "94471032" "94471032" "subst" "1.62553E-5" "04536" "ABCA4_000792" "g.94471032G>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94005476G>A" "" "pathogenic (recessive)" "ACMG"
"0000932675" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "04536" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000932676" "0" "50" "1" "94487490" "94487490" "subst" "0.00122268" "04536" "ABCA4_000506" "g.94487490A>G" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94021934A>G" "" "VUS" "ACMG"
"0000932677" "1" "50" "1" "94476467" "94476467" "subst" "0.0424562" "04536" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[2588G>C;5603A>T]" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000932678" "2" "90" "1" "94528164" "94528164" "subst" "2.03336E-5" "04536" "ABCA4_000267" "g.94528164G>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94062608G>A" "" "pathogenic (recessive)" "ACMG"
"0000932679" "3" "50" "1" "94476467" "94476467" "subst" "0.0424562" "04536" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000932680" "1" "50" "1" "94476467" "94476467" "subst" "0.0424562" "04536" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[5461-10T>C;5603A>T]" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000932681" "2" "90" "1" "94471065" "94471065" "subst" "0.000194997" "04536" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94005509G>A" "" "pathogenic (recessive)" "ACMG"
"0000932682" "1" "90" "1" "94473807" "94473807" "subst" "0.00480453" "04536" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" "ACMG"
"0000932683" "3" "90" "1" "94471056" "94471056" "subst" "2.84398E-5" "04536" "ABCA4_000050" "g.94471056G>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94005500G>A" "" "pathogenic (recessive)" "ACMG"
"0000932684" "0" "70" "1" "94486888" "94486888" "subst" "3.65548E-5" "04536" "ABCA4_000137" "g.94486888G>C" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94021332G>C" "" "likely pathogenic (recessive)" "ACMG"
"0000932685" "0" "90" "1" "94485279" "94485293" "del" "0" "04536" "ABCA4_000476" "g.94485279_94485293del" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94019723_94019737del" "" "pathogenic (recessive)" "ACMG"
"0000932686" "2" "90" "1" "94467517" "94467517" "subst" "0" "04536" "ABCA4_000786" "g.94467517A>C" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94001961A>C" "" "pathogenic (recessive)" "ACMG"
"0000932687" "2" "90" "1" "94470995" "94470995" "subst" "0" "04536" "ABCA4_000183" "g.94470995A>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94005439A>T" "" "pathogenic (recessive)" "ACMG"
"0000932688" "2" "90" "1" "94484001" "94484001" "subst" "0" "04536" "ABCA4_000016" "g.94484001C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94018445C>T" "" "pathogenic (recessive)" "ACMG"
"0000932689" "2" "90" "1" "94564011" "94564421" "del" "0" "04536" "ABCA4_002170" "g.94564011_94564421del" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94098455_94098865del" "" "pathogenic (recessive)" "ACMG"
"0000932690" "3" "50" "1" "94476467" "94476467" "subst" "0.0424562" "04536" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000932691" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "04536" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000932692" "0" "50" "1" "94473854" "94473854" "subst" "0" "04536" "ABCA4_001648" "g.94473854C>G" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94008298C>G" "" "VUS" "ACMG"
"0000932693" "2" "50" "1" "94476467" "94476467" "subst" "0.0424562" "04536" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[5461-10T>C;5603A>T]" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000932694" "2" "90" "1" "94476951" "94476951" "subst" "0.000236097" "04536" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[5461-10T>C;5603A>T]" "" "Germline" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" "ACMG"
"0000932695" "2" "50" "1" "94476467" "94476467" "subst" "0.0424562" "04536" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000932696" "2" "50" "1" "94476467" "94476467" "subst" "0.0424562" "04536" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000932697" "2" "90" "1" "94467517" "94467517" "subst" "0" "04536" "ABCA4_000786" "g.94467517A>C" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94001961A>C" "" "pathogenic (recessive)" "ACMG"
"0000932698" "2" "90" "1" "94471065" "94471065" "subst" "0.000194997" "04536" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94005509G>A" "" "pathogenic (recessive)" "ACMG"
"0000932699" "1" "50" "1" "94476467" "94476467" "subst" "0.0424562" "04536" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000932700" "2" "90" "1" "94484001" "94484001" "subst" "0" "04536" "ABCA4_000016" "g.94484001C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94018445C>T" "" "pathogenic (recessive)" "ACMG"
"0000932701" "2" "50" "1" "94476467" "94476467" "subst" "0.0424562" "04536" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[2588G>C;5603A>T]" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000932702" "2" "90" "1" "94496666" "94496666" "subst" "0.000219568" "04536" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94031110G>A" "" "pathogenic (recessive)" "ACMG"
"0000932703" "1" "50" "1" "94476467" "94476467" "subst" "0.0424562" "04536" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[2588G>C;5603A>T]" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000932704" "1" "90" "1" "94517254" "94517254" "subst" "0.00442654" "04536" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[2588G>C;5603A>T]" "" "Germline" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" "ACMG"
"0000932705" "0" "90" "1" "94490567" "94490567" "subst" "5.68528E-5" "04536" "ABCA4_000026" "g.94490567G>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94025011G>A" "" "pathogenic (recessive)" "ACMG"
"0000932706" "2" "50" "1" "94476467" "94476467" "subst" "0.0424562" "04536" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[2588G>C;5603A>T]" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000932707" "2" "90" "1" "94517254" "94517254" "subst" "0.00442654" "04536" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[2588G>C;5603A>T]" "" "Germline" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" "ACMG"
"0000932708" "2" "90" "1" "94508322" "94508322" "subst" "1.62513E-5" "04536" "ABCA4_000128" "g.94508322C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94042766C>T" "" "pathogenic (recessive)" "ACMG"
"0000932709" "1" "50" "1" "94476467" "94476467" "subst" "0.0424562" "04536" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[2588G>C;5603A>T]" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000932710" "2" "90" "1" "94508322" "94508322" "subst" "1.62513E-5" "04536" "ABCA4_000128" "g.94508322C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94042766C>T" "" "pathogenic (recessive)" "ACMG"
"0000932711" "1" "50" "1" "94476467" "94476467" "subst" "0.0424562" "04536" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[2588G>C;5603A>T]" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000932712" "1" "70" "1" "94508969" "94508969" "subst" "0.00168642" "04536" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[1622T>C;3113C>T]" "" "Germline" "" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic (recessive)" "ACMG"
"0000932713" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "04536" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" "ACMG"
"0000932714" "2" "50" "1" "94502756" "94502756" "subst" "0.000422575" "04536" "ABCA4_000032" "g.94502756G>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94037200G>A" "" "VUS" "ACMG"
"0000932715" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "04536" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000932716" "2" "90" "1" "94544185" "94544185" "subst" "8.12137E-6" "04536" "ABCA4_000177" "g.94544185C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94078629C>T" "" "pathogenic (recessive)" "ACMG"
"0000932717" "2" "90" "1" "94471055" "94471055" "subst" "0.00035346" "04536" "ABCA4_000029" "g.94471055C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94005499C>T" "" "pathogenic (recessive)" "ACMG"
"0000932718" "1" "90" "1" "94486896" "94486896" "subst" "3.65562E-5" "04536" "ABCA4_000085" "g.94486896G>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94021340G>A" "" "pathogenic (recessive)" "ACMG"
"0000932719" "2" "90" "1" "94471055" "94471055" "subst" "0.00035346" "04536" "ABCA4_000029" "g.94471055C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94005499C>T" "" "pathogenic (recessive)" "ACMG"
"0000932720" "0" "90" "1" "94512499" "94512499" "subst" "0.000130029" "04536" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94046943T>C" "" "pathogenic (recessive)" "ACMG"
"0000932721" "0" "50" "1" "94522228" "94522228" "subst" "6.52342E-5" "04536" "ABCA4_002041" "g.94522228T>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94056672T>A" "" "VUS" "ACMG"
"0000932722" "1" "50" "1" "94476467" "94476467" "subst" "0.0424562" "04536" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[2588G>C;5603A>T]" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000932723" "1" "90" "1" "94517254" "94517254" "subst" "0.00442654" "04536" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[2588G>C;5603A>T]" "" "Germline" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" "ACMG"
"0000932724" "2" "90" "1" "94490567" "94490567" "subst" "5.68528E-5" "04536" "ABCA4_000026" "g.94490567G>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94025011G>A" "" "pathogenic (recessive)" "ACMG"
"0000932725" "2" "50" "1" "94476467" "94476467" "subst" "0.0424562" "04536" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000932726" "1" "50" "1" "94476467" "94476467" "subst" "0.0424562" "04536" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[2588G>C;5603A>T]" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000932727" "1" "90" "1" "94517254" "94517254" "subst" "0.00442654" "04536" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[2588G>C;5603A>T]" "" "Germline" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" "ACMG"
"0000932728" "2" "70" "1" "94481292" "94481292" "subst" "0" "04536" "ABCA4_000450" "g.94481292T>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94015736T>A" "" "likely pathogenic (recessive)" "ACMG"
"0000932729" "0" "70" "1" "94528713" "94528713" "subst" "4.87381E-5" "04536" "ABCA4_000072" "g.94528713C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94063157C>T" "" "likely pathogenic (recessive)" "ACMG"
"0000932730" "1" "50" "1" "94476467" "94476467" "subst" "0.0424562" "04536" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[2588G>C;5603A>T]" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000932731" "1" "90" "1" "94517254" "94517254" "subst" "0.00442654" "04536" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[2588G>C;5603A>T]" "" "Germline" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" "ACMG"
"0000932732" "2" "90" "1" "94480178" "94480178" "subst" "2.43692E-5" "04536" "ABCA4_000005" "g.94480178G>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94014622G>T" "" "pathogenic (recessive)" "ACMG"
"0000932733" "2" "70" "1" "94481292" "94481292" "subst" "0" "04536" "ABCA4_000450" "g.94481292T>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94015736T>A" "" "likely pathogenic (recessive)" "ACMG"
"0000932734" "2" "90" "1" "94471055" "94471055" "subst" "0.00035346" "04536" "ABCA4_000029" "g.94471055C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94005499C>T" "" "pathogenic (recessive)" "ACMG"
"0000932735" "1" "50" "1" "94476467" "94476467" "subst" "0.0424562" "04536" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[2588G>C;5603A>T]" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000932736" "3" "50" "1" "94476467" "94476467" "subst" "0.0424562" "04536" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000932737" "2" "90" "1" "94476951" "94476951" "subst" "0.000236097" "04536" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[5461-10T>C;5603A>T]" "" "Germline" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" "ACMG"
"0000932738" "2" "70" "1" "94466455" "94466455" "subst" "0" "04536" "ABCA4_000165" "g.94466455C>G" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94000899C>G" "" "likely pathogenic (recessive)" "ACMG"
"0000932739" "2" "50" "1" "94476467" "94476467" "subst" "0.0424562" "04536" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[2588G>C;5603A>T]" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000932740" "2" "90" "1" "94517254" "94517254" "subst" "0.00442654" "04536" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[2588G>C;5603A>T]" "" "Germline" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" "ACMG"
"0000932741" "2" "50" "1" "94476467" "94476467" "subst" "0.0424562" "04536" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000932742" "1" "50" "1" "94476467" "94476467" "subst" "0.0424562" "04536" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[2588G>C;5603A>T]" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000932743" "2" "90" "1" "94495071" "94495071" "subst" "6.39479E-5" "04536" "ABCA4_000997" "g.94495071C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94029515C>T" "" "pathogenic (recessive)" "ACMG"
"0000932744" "2" "50" "1" "94496087" "94496087" "subst" "0" "04536" "ABCA4_002568" "g.94496087A>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "novel variant" "Germline" "yes" "" "0" "" "" "g.94030531A>T" "" "VUS" "ACMG"
"0000932745" "2" "50" "1" "94496087" "94496087" "subst" "0" "04536" "ABCA4_002568" "g.94496087A>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "novel variant" "Germline" "yes" "" "0" "" "" "g.94030531A>T" "" "VUS" "ACMG"
"0000932746" "2" "50" "1" "94487490" "94487490" "subst" "0.00122268" "04536" "ABCA4_000506" "g.94487490A>G" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94021934A>G" "" "VUS" "ACMG"
"0000932747" "2" "90" "1" "94490567" "94490567" "subst" "5.68528E-5" "04536" "ABCA4_000026" "g.94490567G>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94025011G>A" "" "pathogenic (recessive)" "ACMG"
"0000932748" "2" "90" "1" "94506901" "94506901" "subst" "0.000308665" "04536" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" "ACMG"
"0000932749" "2" "50" "1" "94564442" "94564442" "subst" "6.90894E-5" "04536" "ABCA4_002313" "g.94564442G>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94098886G>T" "" "VUS" "ACMG"
"0000932750" "2" "50" "1" "94476467" "94476467" "subst" "0.0424562" "04536" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[5329A>T;5603A>T]" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000932751" "2" "50" "1" "94480230" "94480230" "subst" "6.09177E-5" "04536" "ABCA4_001053" "g.94480230T>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[5329A>T;5603A>T]" "" "Germline" "yes" "" "0" "" "" "g.94014674T>A" "" "VUS" "ACMG"
"0000932752" "2" "90" "1" "94473278" "94473278" "del" "3.25908E-5" "04536" "ABCA4_000392" "g.94473278del" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94007722del" "" "pathogenic (recessive)" "ACMG"
"0000932753" "2" "90" "1" "94466426" "94466426" "subst" "1.62433E-5" "04536" "ABCA4_000124" "g.94466426G>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94000870G>A" "" "pathogenic (recessive)" "ACMG"
"0000932754" "2" "90" "1" "94473278" "94473278" "del" "3.25908E-5" "04536" "ABCA4_000392" "g.94473278del" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94007722del" "" "pathogenic (recessive)" "ACMG"
"0000932755" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "04536" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" "ACMG"
"0000932756" "2" "70" "1" "94508969" "94508969" "subst" "0.00168642" "04536" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[1622T>C;3113C>T]" "" "Germline" "" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic (recessive)" "ACMG"
"0000932757" "2" "90" "1" "94528806" "94528806" "subst" "0.000150298" "04536" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[1622T>C;3113C>T]" "" "Germline" "" "" "0" "" "" "g.94063250A>G" "" "pathogenic (recessive)" "ACMG"
"0000932758" "1" "50" "1" "94476467" "94476467" "subst" "0.0424562" "04536" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000932759" "2" "90" "1" "94485159" "94485159" "dup" "0" "04536" "ABCA4_001453" "g.94485159dup" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94019603dup" "" "pathogenic (recessive)" "ACMG"
"0000932760" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "04536" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" "ACMG"
"0000932761" "1" "90" "1" "94509026" "94509026" "subst" "4.06497E-5" "04536" "ABCA4_000660" "g.94509026G>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94043470G>A" "" "pathogenic (recessive)" "ACMG"
"0000932762" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "04536" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[769-784C>T;5882G>A]" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" "ACMG"
"0000932763" "2" "30" "1" "94549781" "94549781" "subst" "0" "04536" "ABCA4_001046" "g.94549781G>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[769-784C>T;5882G>A]" "" "Germline" "" "" "0" "" "" "g.94084225G>A" "" "likely benign" "ACMG"
"0000932764" "0" "90" "1" "94486896" "94486896" "subst" "3.65562E-5" "04536" "ABCA4_000085" "g.94486896G>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94021340G>A" "" "pathogenic (recessive)" "ACMG"
"0000932765" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "04536" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" "ACMG"
"0000932766" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "04536" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[769-784C>T;5882G>A]" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" "ACMG"
"0000932767" "2" "30" "1" "94549781" "94549781" "subst" "0" "04536" "ABCA4_001046" "g.94549781G>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[769-784C>T;5882G>A]" "" "Germline" "" "" "0" "" "" "g.94084225G>A" "" "likely benign" "ACMG"
"0000932768" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "04536" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" "ACMG"
"0000932769" "0" "50" "1" "94502756" "94502756" "subst" "0.000422575" "04536" "ABCA4_000032" "g.94502756G>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94037200G>A" "" "VUS" "ACMG"
"0000932770" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "04536" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[769-784C>T;5882G>A]" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" "ACMG"
"0000932771" "2" "30" "1" "94549781" "94549781" "subst" "0" "04536" "ABCA4_001046" "g.94549781G>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[769-784C>T;5882G>A]" "" "Germline" "" "" "0" "" "" "g.94084225G>A" "" "likely benign" "ACMG"
"0000932772" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "04536" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000932773" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "04536" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[769-784C>T;5882G>A]" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" "ACMG"
"0000932774" "2" "30" "1" "94549781" "94549781" "subst" "0" "04536" "ABCA4_001046" "g.94549781G>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[769-784C>T;5882G>A]" "" "Germline" "" "" "0" "" "" "g.94084225G>A" "" "likely benign" "ACMG"
"0000932775" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "04536" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[769-784C>T;5882G>A]" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" "ACMG"
"0000932776" "2" "30" "1" "94549781" "94549781" "subst" "0" "04536" "ABCA4_001046" "g.94549781G>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[769-784C>T;5882G>A]" "" "Germline" "" "" "0" "" "" "g.94084225G>A" "" "likely benign" "ACMG"
"0000932777" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "04536" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[769-784C>T;5882G>A]" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" "ACMG"
"0000932778" "2" "70" "1" "94549781" "94549781" "subst" "0" "04536" "ABCA4_001046" "g.94549781G>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[769-784C>T;5882G>A]" "" "Germline" "" "" "0" "" "" "g.94084225G>A" "" "likely pathogenic (recessive)" "ACMG"
"0000932779" "3" "90" "1" "94473807" "94473807" "subst" "0.00480453" "04536" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" "ACMG"
"0000932780" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "04536" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[769-784C>T;5882G>A]" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" "ACMG"
"0000932781" "2" "30" "1" "94549781" "94549781" "subst" "0" "04536" "ABCA4_001046" "g.94549781G>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[769-784C>T;5882G>A]" "" "Germline" "" "" "0" "" "" "g.94084225G>A" "" "likely benign" "ACMG"
"0000932782" "2" "50" "1" "94568689" "94568689" "subst" "0" "04536" "ABCA4_001023" "g.94568689A>G" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94103133A>G" "" "VUS" "ACMG"
"0000932783" "2" "50" "1" "94476467" "94476467" "subst" "0.0424562" "04536" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000932784" "2" "90" "1" "94496666" "94496666" "subst" "0.000219568" "04536" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94031110G>A" "" "pathogenic (recessive)" "ACMG"
"0000932785" "2" "50" "1" "94476467" "94476467" "subst" "0.0424562" "04536" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000932786" "1" "50" "1" "94476467" "94476467" "subst" "0.0424562" "04536" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[5461-10T>C;5603A>T]" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000932787" "2" "90" "1" "94476351" "94476351" "subst" "0.000296608" "04536" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94010795C>T" "" "pathogenic (recessive)" "ACMG"
"0000932788" "2" "90" "1" "94471056" "94471056" "subst" "2.84398E-5" "04536" "ABCA4_000050" "g.94471056G>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94005500G>A" "" "pathogenic (recessive)" "ACMG"
"0000932789" "3" "70" "1" "94544131" "94544146" "del" "0" "04536" "ABCA4_002578" "g.94544131_94544146del" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "novel variant" "Germline" "" "" "0" "" "" "g.94078575_94078590del" "" "likely pathogenic (recessive)" "ACMG"
"0000932790" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "04536" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" "ACMG"
"0000932791" "2" "70" "1" "94480179" "94480179" "subst" "0" "04536" "ABCA4_000991" "g.94480179C>G" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94014623C>G" "" "likely pathogenic (recessive)" "ACMG"
"0000932792" "2" "70" "1" "94480179" "94480179" "subst" "0" "04536" "ABCA4_000991" "g.94480179C>G" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94014623C>G" "" "likely pathogenic (recessive)" "ACMG"
"0000932793" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "04536" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" "ACMG"
"0000932794" "2" "90" "1" "94497588" "94497588" "subst" "4.153E-6" "04536" "ABCA4_000049" "g.94497588G>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94032032G>A" "" "pathogenic (recessive)" "ACMG"
"0000932795" "1" "50" "1" "94528142" "94528142" "subst" "0.00153303" "04536" "ABCA4_000125" "g.94528142A>C" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94062586A>C" "" "VUS" "ACMG"
"0000932796" "2" "90" "1" "94471056" "94471056" "subst" "2.84398E-5" "04536" "ABCA4_000050" "g.94471056G>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94005500G>A" "" "pathogenic (recessive)" "ACMG"
"0000932797" "1" "50" "1" "94476467" "94476467" "subst" "0.0424562" "04536" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[2588G>C;5603A>T]" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000932798" "0" "70" "1" "94512590" "94512592" "del" "0" "04536" "ABCA4_002573" "g.94512590_94512592del" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94047034_94047036del" "" "likely pathogenic (recessive)" "ACMG"
"0000932799" "1" "50" "1" "94476467" "94476467" "subst" "0.0424562" "04536" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[5461-10T>C;5603A>T]" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000932800" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "04536" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" "ACMG"
"0000932801" "3" "50" "1" "94476467" "94476467" "subst" "0.0424562" "04536" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000932802" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "04536" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000932803" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "04536" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[769-784C>T;5882G>A]" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" "ACMG"
"0000932804" "2" "30" "1" "94549781" "94549781" "subst" "0" "04536" "ABCA4_001046" "g.94549781G>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[769-784C>T;5882G>A]" "" "Germline" "" "" "0" "" "" "g.94084225G>A" "" "likely benign" "ACMG"
"0000932805" "3" "50" "1" "94476467" "94476467" "subst" "0.0424562" "04536" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000932806" "3" "50" "1" "94476467" "94476467" "subst" "0.0424562" "04536" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[5461-10T>C;5603A>T]" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000932807" "1" "50" "1" "94476467" "94476467" "subst" "0.0424562" "04536" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[2588G>C;5603A>T]" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000932808" "1" "90" "1" "94517254" "94517254" "subst" "0.00442654" "04536" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[2588G>C;5603A>T]" "" "Germline" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" "ACMG"
"0000932809" "0" "90" "1" "94512590" "94512592" "del" "0" "04536" "ABCA4_002573" "g.94512590_94512592del" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94047034_94047036del" "" "pathogenic (recessive)" "ACMG"
"0000932810" "2" "50" "1" "94476467" "94476467" "subst" "0.0424562" "04536" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[2588G>C;5603A>T]" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000932811" "2" "90" "1" "94517254" "94517254" "subst" "0.00442654" "04536" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[2588G>C;5603A>T]" "" "Germline" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" "ACMG"
"0000932812" "3" "50" "1" "94476467" "94476467" "subst" "0.0424562" "04536" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000932813" "1" "50" "1" "94476467" "94476467" "subst" "0.0424562" "04536" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[2588G>C;5603A>T]" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000932814" "2" "90" "1" "94495000" "94495000" "subst" "0" "04536" "ABCA4_000164" "g.94495000C>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94029444C>A" "" "pathogenic (recessive)" "ACMG"
"0000932815" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "04536" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" "ACMG"
"0000932816" "2" "50" "1" "94476467" "94476467" "subst" "0.0424562" "04536" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[2588G>C;5603A>T]" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000932817" "2" "90" "1" "94517254" "94517254" "subst" "0.00442654" "04536" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[2588G>C;5603A>T]" "" "Germline" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" "ACMG"
"0000932818" "2" "50" "1" "94476467" "94476467" "subst" "0.0424562" "04536" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[2588G>C;5603A>T]" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000932819" "2" "90" "1" "94517254" "94517254" "subst" "0.00442654" "04536" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[2588G>C;5603A>T]" "" "Germline" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" "ACMG"
"0000932820" "3" "50" "1" "94476467" "94476467" "subst" "0.0424562" "04536" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000932821" "2" "90" "1" "94476951" "94476951" "subst" "0.000236097" "04536" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[5461-10T>C;5603A>T]" "" "Germline" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" "ACMG"
"0000932822" "2" "50" "1" "94476467" "94476467" "subst" "0.0424562" "04536" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[2588G>C;5603A>T]" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000932823" "2" "90" "1" "94517254" "94517254" "subst" "0.00442654" "04536" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[2588G>C;5603A>T]" "" "Germline" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" "ACMG"
"0000932824" "2" "50" "1" "94476467" "94476467" "subst" "0.0424562" "04536" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[2588G>C;5603A>T]" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000932825" "2" "90" "1" "94517254" "94517254" "subst" "0.00442654" "04536" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[2588G>C;5603A>T]" "" "Germline" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" "ACMG"
"0000932826" "3" "50" "1" "94476467" "94476467" "subst" "0.0424562" "04536" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000932827" "2" "90" "1" "94476951" "94476951" "subst" "0.000236097" "04536" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[5461-10T>C;5603A>T]" "" "Germline" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" "ACMG"
"0000932828" "2" "50" "1" "94544157" "94544157" "subst" "0" "04536" "ABCA4_002579" "g.94544157T>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "novel variant" "Germline" "" "" "0" "" "" "g.94078601T>A" "" "VUS" "ACMG"
"0000932829" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "04536" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000932830" "2" "90" "1" "94496666" "94496666" "subst" "0.000219568" "04536" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94031110G>A" "" "pathogenic (recessive)" "ACMG"
"0000932831" "2" "50" "1" "94476467" "94476467" "subst" "0.0424562" "04536" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000932832" "1" "50" "1" "94476467" "94476467" "subst" "0.0424562" "04536" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[2588G>C;5603A>T]" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000932833" "1" "70" "1" "94476890" "94476890" "subst" "4.06227E-6" "04536" "ABCA4_000434" "g.94476890G>C" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94011334G>C" "" "likely pathogenic (recessive)" "ACMG"
"0000932834" "2" "50" "1" "94476467" "94476467" "subst" "0.0424562" "04536" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[5461-10T>C;5603A>T]" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000932835" "2" "90" "1" "94476951" "94476951" "subst" "0.000236097" "04536" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[5461-10T>C;5603A>T]" "" "Germline" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" "ACMG"
"0000932836" "2" "90" "1" "94528248" "94528248" "subst" "1.22148E-5" "04536" "ABCA4_000279" "g.94528248A>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94062692A>T" "" "pathogenic (recessive)" "ACMG"
"0000932837" "1" "50" "1" "94476467" "94476467" "subst" "0.0424562" "04536" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "c.[2588G>C;5603A>T]" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000932838" "2" "90" "1" "94520844" "94520845" "del" "0" "04536" "ABCA4_002030" "g.94520844_94520845del" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94055288_94055289del" "" "pathogenic (recessive)" "ACMG"
"0000932839" "3" "50" "1" "94476467" "94476467" "subst" "0.0424562" "04536" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000932840" "2" "50" "1" "94459511" "94459511" "subst" "0" "04536" "ABCA4_002556" "g.94459511T>C" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "" "Germline" "yes" "" "0" "" "" "g.93993955T>C" "" "VUS" "ACMG"
"0000933396" "3" "90" "1" "94517254" "94517254" "subst" "0.00442654" "04552" "ABCA4_000034" "g.94517254C>G" "" "Villafuerte-de la Cruz RA, et al., 2023. Submitted" "" "" "" "Germline" "yes" "rs76157638" "0" "" "" "" "{CV:4475}" "pathogenic" "ACMG"
"0000933416" "0" "90" "1" "94480241" "94480241" "subst" "7.71705E-5" "04552" "ABCA4_000446" "g.94480241G>A" "" "Villafuerte-de la Cruz RA, et al., 2023. Submitted" "" "" "" "Germline" "yes" "rs760549861" "0" "" "" "" "{CV:99340}}" "pathogenic" "ACMG"
"0000933417" "0" "90" "1" "94564484" "94564484" "subst" "0.000110199" "04552" "ABCA4_000036" "g.94564484G>A" "" "Villafuerte-de la Cruz RA, et al., 2023. Submitted" "" "" "" "Germline" "yes" "rs61750200" "0" "" "" "" "{CV:99084}" "pathogenic" "ACMG"
"0000933418" "11" "90" "1" "94486888" "94486888" "subst" "3.65548E-5" "04552" "ABCA4_000137" "g.94486888G>C" "" "{PMID:Villafuerte-De la Cruz 2022:36051698}" "" "" "" "Germline" "yes" "rs62646872" "0" "" "" "g.94021332G>C" "{CV:99340}" "pathogenic (recessive)" "ACMG"
"0000933419" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "04552" "ABCA4_000117" "g.94528266G>A" "" "Villafuerte-de la Cruz RA, et al., 2023. Submitted" "" "" "" "Germline" "yes" "rs61749409" "0" "" "" "" "{CV:99224}" "pathogenic" "ACMG"
"0000933420" "0" "90" "1" "94486888" "94486888" "subst" "3.65548E-5" "04552" "ABCA4_000137" "g.94486888G>C" "" "{PMID:Villafuerte-De la Cruz 2022:36051698}" "" "" "" "Uniparental disomy, paternal allele" "" "rs61753017" "0" "" "" "" "{CV:99332}" "pathogenic (recessive)" "ACMG"
"0000933421" "11" "90" "1" "94506901" "94506901" "subst" "0.000308665" "04552" "ABCA4_000054" "g.94506901C>A" "" "Villafuerte-de la Cruz RA, et al., 2023. Submitted" "" "" "" "Germline" "yes" "rs1801269" "0" "" "" "" "{CV:1351564}" "pathogenic" "ACMG"
"0000933423" "0" "90" "1" "94512488" "94512488" "del" "0" "04552" "ABCA4_002360" "g.94512488del" "" "Villafuerte-de la Cruz RA, et al., 2023. Submitted" "" "" "" "Germline" "yes" "" "0" "" "" "g.94046932del" "{CV:99332}" "pathogenic" "ACMG"
"0000933424" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "04552" "ABCA4_000046" "g.94473807C>T" "" "Villafuerte-de la Cruz RA, et al., 2023. Submitted" "" "" "" "Germline" "yes" "rs1800553" "0" "" "" "" "{CV:99340}" "pathogenic" "ACMG"
"0000933425" "0" "90" "1" "94486888" "94486888" "subst" "3.65548E-5" "04552" "ABCA4_000137" "g.94486888G>C" "" "Villafuerte-de la Cruz RA, et al., 2023. Submitted" "" "" "" "Germline" "yes" "rs61753017" "0" "" "" "" "{CV:236129}" "pathogenic" "ACMG"
"0000933426" "0" "90" "1" "94485279" "94485293" "del" "0" "04552" "ABCA4_000476" "g.94485279_94485293del" "" "Villafuerte-de la Cruz RA, et al., 2023. Submitted" "" "" "" "Germline" "yes" "rs62646872" "0" "" "" "g.94019723_94019737del" "" "pathogenic" "ACMG"
"0000933427" "0" "90" "1" "94480241" "94480241" "subst" "7.71705E-5" "04552" "ABCA4_000446" "g.94480241G>A" "" "Villafuerte-de la Cruz RA, et al., 2023. Submitted" "" "" "" "Germline" "yes" "rs760549861" "0" "" "" "" "{CV:99283}" "pathogenic" "ACMG"
"0000933428" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "04552" "ABCA4_000054" "g.94506901C>A" "" "Villafuerte-de la Cruz RA, et al., 2023. Submitted" "" "" "" "Germline" "yes" "rs1801269" "0" "" "" "" "{CV:99224}" "pathogenic" "ACMG"
"0000933429" "0" "90" "1" "94495083" "94495083" "subst" "0.000124542" "04552" "ABCA4_000542" "g.94495083G>A" "" "Villafuerte-de la Cruz RA, et al., 2023. Submitted" "" "" "" "Germline" "yes" "rs61750145" "0" "" "" "" "{CV:866115}" "pathogenic" "ACMG"
"0000933430" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "04552" "ABCA4_000054" "g.94506901C>A" "" "Villafuerte-de la Cruz RA, et al., 2023. Submitted" "" "" "" "Germline" "yes" "rs1801269" "0" "" "" "" "{CV:1482377}" "pathogenic" "ACMG"
"0000933431" "0" "90" "1" "94463428" "94463428" "subst" "1.62621E-5" "04552" "ABCA4_000854" "g.94463428T>C" "" "Villafuerte-de la Cruz RA, et al., 2023. Submitted" "" "" "" "Germline" "yes" "rs779585931" "0" "" "" "" "{CV:941626}" "pathogenic" "ACMG"
"0000933432" "0" "90" "1" "94495923" "94495923" "subst" "0" "04552" "ABCA4_001255" "g.94495923C>T" "" "Villafuerte-de la Cruz RA, et al., 2023. Submitted" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "ACMG"
"0000933435" "0" "90" "1" "94495009" "94495009" "dup" "0" "04552" "ABCA4_000087" "g.94495009dup" "" "Villafuerte-de la Cruz RA, et al., 2023. Submitted" "" "" "" "Germline" "yes" "rs281865377" "0" "" "" "g.94029453dup" "{CV:1351895}" "pathogenic" "ACMG"
"0000933436" "0" "90" "1" "94476942" "94476942" "subst" "0" "04552" "ABCA4_001487" "g.94476942C>A" "" "Villafuerte-de la Cruz RA, et al., 2023. Submitted" "" "" "" "Germline" "yes" "" "0" "" "" "" "{CV:1351895}" "pathogenic" "ACMG"
"0000933438" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "04552" "ABCA4_000054" "g.94506901C>A" "" "Villafuerte-de la Cruz RA, et al., 2023. Submitted" "" "" "" "Germline" "yes" "" "0" "" "" "" "{CV:236096}" "pathogenic" "ACMG"
"0000933439" "0" "90" "1" "94496666" "94496666" "subst" "0.000219568" "04552" "ABCA4_000019" "g.94496666G>A" "" "Villafuerte-de la Cruz RA, et al., 2023. Submitted" "" "" "" "Germline" "yes" "rs61750130" "0" "" "" "" "{CV:438100}" "pathogenic" "ACMG"
"0000933440" "0" "90" "1" "94512499" "94512499" "subst" "0.000130029" "04552" "ABCA4_000072" "g.94512499T>C" "" "Villafuerte-de la Cruz RA, et al., 2023. Submitted" "" "" "" "Germline" "yes" "rs201471607" "0" "" "" "" "{CV:236129}" "pathogenic" "ACMG"
"0000933441" "0" "90" "1" "94484001" "94484001" "subst" "0" "04552" "ABCA4_000016" "g.94484001C>T" "" "Villafuerte-de la Cruz RA, et al., 2023. Submitted" "" "" "" "Germline" "yes" "rs778234759" "0" "" "" "" "{CV:689736}" "pathogenic" "ACMG"
"0000933442" "0" "90" "1" "94480241" "94480241" "subst" "7.71705E-5" "04552" "ABCA4_000446" "g.94480241G>A" "" "Villafuerte-de la Cruz RA, et al., 2023. Submitted" "" "" "" "Germline" "yes" "rs760549861" "0" "" "" "" "{CV:99084}" "pathogenic" "ACMG"
"0000933443" "0" "90" "1" "94467475" "94467475" "subst" "3.65542E-5" "04552" "ABCA4_000171" "g.94467475C>A" "" "Villafuerte-de la Cruz RA, et al., 2023. Submitted" "" "" "" "Germline" "yes" "rs367839100" "0" "" "" "" "{CV:99266}" "pathogenic" "ACMG"
"0000933444" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "04552" "ABCA4_000117" "g.94528266G>A" "" "Villafuerte-de la Cruz RA, et al., 2023. Submitted" "" "" "" "Germline" "yes" "rs61749409" "0" "" "" "" "{CV:7894}" "pathogenic" "ACMG"
"0000933445" "0" "90" "1" "94496548" "94496548" "subst" "2.43787E-5" "04552" "ABCA4_000088" "g.94496548G>A" "" "Villafuerte-de la Cruz RA, et al., 2023. Submitted" "" "" "" "Germline" "yes" "rs61754044" "0" "" "" "" "{CV:689736}" "pathogenic" "ACMG"
"0000933446" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "04552" "ABCA4_000021" "g.94508969G>A" "" "Villafuerte-de la Cruz RA, et al., 2023. Submitted" "" "" "" "Germline" "yes" "rs61751374" "0" "" "" "" "{CV:7894" "pathogenic" "ACMG"
"0000933447" "0" "90" "1" "94467475" "94467475" "subst" "3.65542E-5" "04552" "ABCA4_000171" "g.94467475C>A" "" "Villafuerte-de la Cruz RA, et al., 2023. Submitted" "" "" "" "Germline" "yes" "rs367839100" "0" "" "" "" "{CV:689736" "pathogenic" "ACMG"
"0000933461" "11" "90" "1" "94485279" "94485293" "del" "0" "00006" "ABCA4_000476" "g.94485279_94485293del" "" "{PMID:Villafuerte-De la Cruz 2022:36051698}" "" "" "" "Germline" "" "" "0" "" "" "g.94019723_94019737del" "" "pathogenic (recessive)" ""
"0000933462" "0" "90" "1" "94485279" "94485293" "del" "0" "00006" "ABCA4_000476" "g.94485279_94485293del" "" "{PMID:Villafuerte-De la Cruz 2022:36051698}" "" "" "" "Uniparental disomy, paternal allele" "" "" "0" "" "" "g.94019723_94019737del" "" "pathogenic (recessive)" ""
"0000933622" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "04552" "ABCA4_000031" "g.94508323G>A" "" "Villafuerte-de la Cruz RA, et al., 2023. Submitted" "" "" "" "Germline" "yes" "rs61750120" "" "" "" "" "{CV:92867}" "pathogenic" "ACMG"
"0000933623" "0" "90" "1" "94496666" "94496666" "subst" "0.000219568" "04552" "ABCA4_000019" "g.94496666G>A" "" "Villafuerte-de la Cruz RA, et al., 2023. Submitted" "" "" "" "Germline" "yes" "rs61750130" "" "" "" "" "{CV:7904}" "pathogenic" "ACMG"
"0000933624" "11" "90" "1" "94486888" "94486888" "subst" "3.65548E-5" "04552" "ABCA4_000137" "g.94486888G>C" "" "Villafuerte-de la Cruz RA, et al., 2023. Submitted" "" "" "" "Germline" "yes" "rs61753017" "" "" "" "" "{CV:99332}" "pathogenic" "ACMG"
"0000933625" "11" "90" "1" "94485279" "94485293" "del" "0" "04552" "ABCA4_000476" "g.94485279_94485293del" "" "Villafuerte-de la Cruz RA, et al., 2023. Submitted" "" "" "" "Germline" "yes" "rs62646872" "0" "" "" "g.94019723_94019737del" "{CV:99340}" "pathogenic" "ACMG"
"0000933626" "21" "90" "1" "94463567" "94463567" "del" "0" "04552" "ABCA4_002584" "g.94463567del" "" "Villafuerte-de la Cruz RA, et al., 2023. Submitted" "" "" "" "Germline" "yes" "" "0" "" "" "g.93998011del" "{CV:2008709}" "pathogenic" "ACMG"
"0000933711" "0" "70" "1" "94577530" "94577530" "subst" "0" "00006" "ABCA4_002453" "g.94577530C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "expression cloning midi-gene splicing assay, 0.36 normally spliced mRNA; predicted severity moderate" "In vitro (cloned)" "" "" "0" "" "" "g.94111974C>T" "" "NA" ""
"0000933712" "0" "10" "1" "94546830" "94546830" "subst" "0" "00006" "ABCA4_002585" "g.94546830T>C" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "expression cloning midi-gene splicing assay, variant did not affect splicing" "In vitro (cloned)" "" "" "0" "" "" "g.94081274T>C" "" "NA" ""
"0000933713" "0" "90" "1" "94546299" "94546299" "subst" "0" "00006" "ABCA4_002405" "g.94546299T>C" "" "{PMID:Corradi 2022:35475888}, {DOI:Corradi 2022: 10.1167/iovs.63.4.20}" "" "" "expression cloning midi-gene splicing assay, no normally spliced mRNA; predicted severity severe" "In vitro (cloned)" "" "" "0" "" "" "g.94080743T>C" "" "NA" ""
"0000933714" "0" "90" "1" "94514536" "94514536" "subst" "0" "00006" "ABCA4_002574" "g.94514536T>G" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "expression cloning midi-gene splicing assay, 0.06 normally spliced mRNA; predicted severity severe; variant suggested to affect splice branch point" "In vitro (cloned)" "" "" "0" "" "" "g.94048980T>G" "" "NA" ""
"0000933716" "0" "90" "1" "94514424" "94514424" "subst" "4.06105E-6" "00006" "ABCA4_000972" "g.94514424C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "expression cloning midi-gene splicing assay, 0.02 normally spliced mRNA; predicted severity severe" "In vitro (cloned)" "" "" "0" "" "" "g.94048868C>T" "" "NA" ""
"0000933717" "0" "70" "1" "94511074" "94511074" "subst" "0" "00006" "ABCA4_002572" "g.94511074T>C" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "expression cloning midi-gene splicing assay, 0.33 normally spliced mRNA; predicted severity moderate" "In vitro (cloned)" "" "" "0" "" "" "g.94045518T>C" "" "NA" ""
"0000933718" "0" "10" "1" "94510477" "94510477" "subst" "0" "00006" "ABCA4_002586" "g.94510477C>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "expression cloning midi-gene splicing assay, no effect on splicing; predicted severity benign" "In vitro (cloned)" "" "" "0" "" "" "g.94044921C>A" "" "NA" ""
"0000933719" "0" "30" "1" "94506241" "94506241" "subst" "0" "00006" "ABCA4_002587" "g.94506241T>C" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "expression cloning midi-gene splicing assay, 0.89 normally spliced mRNA; predicted severity benign" "In vitro (cloned)" "" "" "0" "" "" "g.94040685T>C" "" "NA" ""
"0000933720" "0" "90" "1" "94496087" "94496087" "subst" "0" "00006" "ABCA4_002568" "g.94496087A>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "expression cloning midi-gene splicing assay, 0.02 normally spliced mRNA; predicted severity severe" "In vitro (cloned)" "" "" "0" "" "" "g.94030531A>T" "" "NA" ""
"0000933721" "0" "70" "1" "94493037" "94493037" "subst" "0" "00006" "ABCA4_002567" "g.94493037C>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "expression cloning midi-gene splicing assay, 0.22 normally spliced mRNA; predicted severity moderate" "In vitro (cloned)" "" "" "0" "" "" "g.94027481C>A" "" "NA" ""
"0000933722" "0" "70" "1" "94488937" "94488937" "subst" "0" "00006" "ABCA4_002394" "g.94488937C>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "expression cloning midi-gene splicing assay, 0.16 normally spliced mRNA; predicted severity severe" "In vitro (cloned)" "" "" "0" "" "" "g.94023381C>A" "" "NA" ""
"0000933723" "0" "50" "1" "94487402" "94487402" "subst" "2.43649E-5" "00006" "ABCA4_002379" "g.94487402C>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "expression cloning midi-gene splicing assay, 0.53 normally spliced mRNA; predicted severity mild" "In vitro (cloned)" "" "" "0" "" "" "g.94021846C>A" "" "NA" ""
"0000933724" "0" "10" "1" "94472473" "94472473" "subst" "0" "00006" "ABCA4_002588" "g.94472473C>A" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "expression cloning midi-gene splicing assay, 1.00 normally spliced mRNA; predicted severity moderate" "In vitro (cloned)" "" "" "0" "" "" "g.94006917C>A" "" "NA" ""
"0000933725" "0" "30" "1" "94466982" "94466982" "subst" "0" "00006" "ABCA4_002561" "g.94466982G>C" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "expression cloning midi-gene splicing assay, 0.90 normally spliced mRNA; predicted severity benign" "In vitro (cloned)" "" "" "0" "" "" "g.94001426G>C" "" "NA" ""
"0000933726" "0" "10" "1" "94466754" "94466754" "subst" "0" "00006" "ABCA4_002589" "g.94466754G>C" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "expression cloning midi-gene splicing assay, 1.00 normally spliced mRNA; predicted severity benign" "In vitro (cloned)" "" "" "0" "" "" "g.94001198G>C" "" "NA" ""
"0000933727" "0" "70" "1" "94466499" "94466502" "del" "0" "00006" "ABCA4_002560" "g.94466499_94466502del" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "expression cloning midi-gene splicing assay, 0.36 normally spliced mRNA; predicted severity moderate" "In vitro (cloned)" "" "" "0" "" "" "g.94000943_94000946del" "" "NA" ""
"0000933728" "0" "30" "1" "94461665" "94461665" "subst" "0" "00006" "ABCA4_002557" "g.94461665C>T" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "expression cloning midi-gene splicing assay, 0.67 normally spliced mRNA; predicted severity mild" "In vitro (cloned)" "" "" "0" "" "" "g.93996109C>T" "" "NA" ""
"0000933729" "0" "30" "1" "94459511" "94459511" "subst" "0" "00006" "ABCA4_002556" "g.94459511T>C" "" "{PMID:Corradi 2023:37705246}, {DOI:Corradi 2023:10.1016/j.xhgg.2023.100237}" "" "" "expression cloning midi-gene splicing assay, 0.59 normally spliced mRNA; predicted severity mild" "In vitro (cloned)" "" "" "0" "" "" "g.93993955T>C" "" "NA" ""
"0000933730" "3" "90" "1" "94546299" "94546299" "subst" "0" "00006" "ABCA4_002405" "g.94546299T>C" "" "{PMID:Corradi 2022:35475888}, {DOI:Corradi 2022: 10.1167/iovs.63.4.20}" "" "" "effect on splicing predicted from in vitro analysis" "Germline" "" "" "0" "" "" "g.94080743T>C" "" "pathogenic (recessive)" ""
"0000933731" "3" "90" "1" "94546299" "94546299" "subst" "0" "00006" "ABCA4_002405" "g.94546299T>C" "" "{PMID:Corradi 2022:35475888}, {DOI:Corradi 2022: 10.1167/iovs.63.4.20}" "" "" "effect on splicing predicted from in vitro analysis" "Germline" "" "" "0" "" "" "g.94080743T>C" "" "pathogenic (recessive)" ""
"0000933732" "3" "90" "1" "94546299" "94546299" "subst" "0" "00006" "ABCA4_002405" "g.94546299T>C" "" "{PMID:Corradi 2022:35475888}, {DOI:Corradi 2022: 10.1167/iovs.63.4.20}" "" "" "effect on splicing predicted from in vitro analysis" "Germline" "" "" "0" "" "" "g.94080743T>C" "" "pathogenic (recessive)" ""
"0000933733" "3" "90" "1" "94546299" "94546299" "subst" "0" "00006" "ABCA4_002405" "g.94546299T>C" "" "{PMID:Corradi 2022:35475888}, {DOI:Corradi 2022: 10.1167/iovs.63.4.20}" "" "" "effect on splicing predicted from in vitro analysis" "Germline" "" "" "0" "" "" "g.94080743T>C" "" "pathogenic (recessive)" ""
"0000933734" "3" "90" "1" "94546299" "94546299" "subst" "0" "00006" "ABCA4_002405" "g.94546299T>C" "" "{PMID:Corradi 2022:35475888}, {DOI:Corradi 2022: 10.1167/iovs.63.4.20}" "" "" "effect on splicing predicted from in vitro analysis" "Germline" "" "" "0" "" "" "g.94080743T>C" "" "pathogenic (recessive)" ""
"0000933735" "3" "90" "1" "94546299" "94546299" "subst" "0" "00006" "ABCA4_002405" "g.94546299T>C" "" "{PMID:Corradi 2022:35475888}, {DOI:Corradi 2022: 10.1167/iovs.63.4.20}" "" "" "effect on splicing predicted from in vitro analysis" "Germline" "" "" "0" "" "" "g.94080743T>C" "" "pathogenic (recessive)" ""
"0000933736" "3" "90" "1" "94546299" "94546299" "subst" "0" "00006" "ABCA4_002405" "g.94546299T>C" "" "{PMID:Corradi 2022:35475888}, {DOI:Corradi 2022: 10.1167/iovs.63.4.20}" "" "" "effect on splicing predicted from in vitro analysis" "Germline" "" "" "0" "" "" "g.94080743T>C" "" "pathogenic (recessive)" ""
"0000933737" "3" "90" "1" "94546299" "94546299" "subst" "0" "00006" "ABCA4_002405" "g.94546299T>C" "" "{PMID:Corradi 2022:35475888}, {DOI:Corradi 2022: 10.1167/iovs.63.4.20}" "" "" "effect on splicing predicted from in vitro analysis" "Germline" "" "" "0" "" "" "g.94080743T>C" "" "pathogenic (recessive)" ""
"0000933738" "3" "90" "1" "94546299" "94546299" "subst" "0" "00006" "ABCA4_002405" "g.94546299T>C" "" "{PMID:Corradi 2022:35475888}, {DOI:Corradi 2022: 10.1167/iovs.63.4.20}" "" "" "effect on splicing predicted from in vitro analysis" "Germline" "" "" "0" "" "" "g.94080743T>C" "" "pathogenic (recessive)" ""
"0000933739" "3" "90" "1" "94546299" "94546299" "subst" "0" "00006" "ABCA4_002405" "g.94546299T>C" "" "{PMID:Corradi 2022:35475888}, {DOI:Corradi 2022: 10.1167/iovs.63.4.20}" "" "" "effect on splicing predicted from in vitro analysis" "Germline" "" "" "0" "" "" "g.94080743T>C" "" "pathogenic (recessive)" ""
"0000933740" "3" "90" "1" "94546299" "94546299" "subst" "0" "00006" "ABCA4_002405" "g.94546299T>C" "" "{PMID:Corradi 2022:35475888}, {DOI:Corradi 2022: 10.1167/iovs.63.4.20}" "" "" "effect on splicing predicted from in vitro analysis" "Germline" "" "" "0" "" "" "g.94080743T>C" "" "pathogenic (recessive)" ""
"0000933741" "3" "90" "1" "94546299" "94546299" "subst" "0" "00006" "ABCA4_002405" "g.94546299T>C" "" "{PMID:Corradi 2022:35475888}, {DOI:Corradi 2022: 10.1167/iovs.63.4.20}" "" "" "effect on splicing predicted from in vitro analysis" "Germline" "" "" "0" "" "" "g.94080743T>C" "" "pathogenic (recessive)" ""
"0000933742" "3" "90" "1" "94546299" "94546299" "subst" "0" "00006" "ABCA4_002405" "g.94546299T>C" "" "{PMID:Corradi 2022:35475888}, {DOI:Corradi 2022: 10.1167/iovs.63.4.20}" "" "" "effect on splicing predicted from in vitro analysis" "Germline" "" "" "0" "" "" "g.94080743T>C" "" "pathogenic (recessive)" ""
"0000933743" "3" "90" "1" "94546299" "94546299" "subst" "0" "00006" "ABCA4_002405" "g.94546299T>C" "" "{PMID:Corradi 2022:35475888}, {DOI:Corradi 2022: 10.1167/iovs.63.4.20}" "" "" "effect on splicing predicted from in vitro analysis" "Germline" "" "" "0" "" "" "g.94080743T>C" "" "pathogenic (recessive)" ""
"0000933744" "3" "90" "1" "94546299" "94546299" "subst" "0" "00006" "ABCA4_002405" "g.94546299T>C" "" "{PMID:Corradi 2022:35475888}, {DOI:Corradi 2022: 10.1167/iovs.63.4.20}" "" "" "effect on splicing predicted from in vitro analysis" "Germline" "" "" "0" "" "" "g.94080743T>C" "" "pathogenic (recessive)" ""
"0000933745" "3" "90" "1" "94546299" "94546299" "subst" "0" "00006" "ABCA4_002405" "g.94546299T>C" "" "{PMID:Corradi 2022:35475888}, {DOI:Corradi 2022: 10.1167/iovs.63.4.20}" "" "" "effect on splicing predicted from in vitro analysis" "Germline" "" "" "0" "" "" "g.94080743T>C" "" "pathogenic (recessive)" ""
"0000933746" "3" "90" "1" "94546299" "94546299" "subst" "0" "00006" "ABCA4_002405" "g.94546299T>C" "" "{PMID:Corradi 2022:35475888}, {DOI:Corradi 2022: 10.1167/iovs.63.4.20}" "" "" "effect on splicing predicted from in vitro analysis" "Germline" "" "" "0" "" "" "g.94080743T>C" "" "pathogenic (recessive)" ""
"0000933747" "3" "90" "1" "94546299" "94546299" "subst" "0" "00006" "ABCA4_002405" "g.94546299T>C" "" "{PMID:Corradi 2022:35475888}, {DOI:Corradi 2022: 10.1167/iovs.63.4.20}" "" "" "effect on splicing predicted from in vitro analysis" "Germline" "" "" "0" "" "" "g.94080743T>C" "" "pathogenic (recessive)" ""
"0000933748" "3" "90" "1" "94546299" "94546299" "subst" "0" "00006" "ABCA4_002405" "g.94546299T>C" "" "{PMID:Corradi 2022:35475888}, {DOI:Corradi 2022: 10.1167/iovs.63.4.20}" "" "" "effect on splicing predicted from in vitro analysis" "Germline" "" "" "0" "" "" "g.94080743T>C" "" "pathogenic (recessive)" ""
"0000933749" "3" "90" "1" "94546299" "94546299" "subst" "0" "00006" "ABCA4_002405" "g.94546299T>C" "" "{PMID:Corradi 2022:35475888}, {DOI:Corradi 2022: 10.1167/iovs.63.4.20}" "" "" "effect on splicing predicted from in vitro analysis" "Germline" "" "" "0" "" "" "g.94080743T>C" "" "pathogenic (recessive)" ""
"0000933750" "3" "90" "1" "94546299" "94546299" "subst" "0" "00006" "ABCA4_002405" "g.94546299T>C" "" "{PMID:Corradi 2022:35475888}, {DOI:Corradi 2022: 10.1167/iovs.63.4.20}" "" "" "effect on splicing predicted from in vitro analysis" "Germline" "" "" "0" "" "" "g.94080743T>C" "" "pathogenic (recessive)" ""
"0000933751" "3" "90" "1" "94546299" "94546299" "subst" "0" "00006" "ABCA4_002405" "g.94546299T>C" "" "{PMID:Corradi 2022:35475888}, {DOI:Corradi 2022: 10.1167/iovs.63.4.20}" "" "" "effect on splicing predicted from in vitro analysis" "Germline" "" "" "0" "" "" "g.94080743T>C" "" "pathogenic (recessive)" ""
"0000933752" "3" "90" "1" "94546299" "94546299" "subst" "0" "00006" "ABCA4_002405" "g.94546299T>C" "" "{PMID:Corradi 2022:35475888}, {DOI:Corradi 2022: 10.1167/iovs.63.4.20}" "" "" "effect on splicing predicted from in vitro analysis" "Germline" "" "" "0" "" "" "g.94080743T>C" "" "pathogenic (recessive)" ""
"0000933753" "3" "90" "1" "94546299" "94546299" "subst" "0" "00006" "ABCA4_002405" "g.94546299T>C" "" "{PMID:Corradi 2022:35475888}, {DOI:Corradi 2022: 10.1167/iovs.63.4.20}" "" "" "effect on splicing predicted from in vitro analysis" "Germline" "" "" "0" "" "" "g.94080743T>C" "" "pathogenic (recessive)" ""
"0000933754" "3" "90" "1" "94546299" "94546299" "subst" "0" "00006" "ABCA4_002405" "g.94546299T>C" "" "{PMID:Corradi 2022:35475888}, {DOI:Corradi 2022: 10.1167/iovs.63.4.20}" "" "" "effect on splicing predicted from in vitro analysis" "Germline" "" "" "0" "" "" "g.94080743T>C" "" "pathogenic (recessive)" ""
"0000933755" "3" "90" "1" "94546299" "94546299" "subst" "0" "00006" "ABCA4_002405" "g.94546299T>C" "" "{PMID:Corradi 2022:35475888}, {DOI:Corradi 2022: 10.1167/iovs.63.4.20}" "" "" "effect on splicing predicted from in vitro analysis" "Germline" "" "" "0" "" "" "g.94080743T>C" "" "pathogenic (recessive)" ""
"0000933756" "3" "90" "1" "94546299" "94546299" "subst" "0" "00006" "ABCA4_002405" "g.94546299T>C" "" "{PMID:Corradi 2022:35475888}, {DOI:Corradi 2022: 10.1167/iovs.63.4.20}" "" "" "effect on splicing predicted from in vitro analysis" "Germline" "" "" "0" "" "" "g.94080743T>C" "" "pathogenic (recessive)" ""
"0000933757" "3" "90" "1" "94546299" "94546299" "subst" "0" "00006" "ABCA4_002405" "g.94546299T>C" "" "{PMID:Corradi 2022:35475888}, {DOI:Corradi 2022: 10.1167/iovs.63.4.20}" "" "" "effect on splicing predicted from in vitro analysis" "Germline" "" "" "0" "" "" "g.94080743T>C" "" "pathogenic (recessive)" ""
"0000933758" "3" "90" "1" "94546299" "94546299" "subst" "0" "00006" "ABCA4_002405" "g.94546299T>C" "" "{PMID:Corradi 2022:35475888}, {DOI:Corradi 2022: 10.1167/iovs.63.4.20}" "" "" "effect on splicing predicted from in vitro analysis" "Germline" "" "" "0" "" "" "g.94080743T>C" "" "pathogenic (recessive)" ""
"0000933759" "3" "90" "1" "94546299" "94546299" "subst" "0" "00006" "ABCA4_002405" "g.94546299T>C" "" "{PMID:Corradi 2022:35475888}, {DOI:Corradi 2022: 10.1167/iovs.63.4.20}" "" "" "effect on splicing predicted from in vitro analysis" "Germline" "" "" "0" "" "" "g.94080743T>C" "" "pathogenic (recessive)" ""
"0000933760" "3" "90" "1" "94546299" "94546299" "subst" "0" "00006" "ABCA4_002405" "g.94546299T>C" "" "{PMID:Corradi 2022:35475888}, {DOI:Corradi 2022: 10.1167/iovs.63.4.20}" "" "" "effect on splicing predicted from in vitro analysis" "Germline" "" "" "0" "" "" "g.94080743T>C" "" "pathogenic (recessive)" ""
"0000933761" "3" "90" "1" "94546299" "94546299" "subst" "0" "00006" "ABCA4_002405" "g.94546299T>C" "" "{PMID:Corradi 2022:35475888}, {DOI:Corradi 2022: 10.1167/iovs.63.4.20}" "" "" "effect on splicing predicted from in vitro analysis" "Germline" "" "" "0" "" "" "g.94080743T>C" "" "pathogenic (recessive)" ""
"0000933762" "3" "90" "1" "94546299" "94546299" "subst" "0" "00006" "ABCA4_002405" "g.94546299T>C" "" "{PMID:Corradi 2022:35475888}, {DOI:Corradi 2022: 10.1167/iovs.63.4.20}" "" "" "effect on splicing predicted from in vitro analysis" "Germline" "" "" "0" "" "" "g.94080743T>C" "" "pathogenic (recessive)" ""
"0000933763" "3" "90" "1" "94546299" "94546299" "subst" "0" "00006" "ABCA4_002405" "g.94546299T>C" "" "{PMID:Corradi 2022:35475888}, {DOI:Corradi 2022: 10.1167/iovs.63.4.20}" "" "" "effect on splicing predicted from in vitro analysis" "Germline" "" "" "0" "" "" "g.94080743T>C" "" "pathogenic (recessive)" ""
"0000933764" "3" "90" "1" "94546299" "94546299" "subst" "0" "00006" "ABCA4_002405" "g.94546299T>C" "" "{PMID:Corradi 2022:35475888}, {DOI:Corradi 2022: 10.1167/iovs.63.4.20}" "" "" "effect on splicing predicted from in vitro analysis" "Germline" "" "" "0" "" "" "g.94080743T>C" "" "pathogenic (recessive)" ""
"0000933765" "3" "90" "1" "94546299" "94546299" "subst" "0" "00006" "ABCA4_002405" "g.94546299T>C" "" "{PMID:Corradi 2022:35475888}, {DOI:Corradi 2022: 10.1167/iovs.63.4.20}" "" "" "effect on splicing predicted from in vitro analysis" "Germline" "" "" "0" "" "" "g.94080743T>C" "" "pathogenic (recessive)" ""
"0000933766" "3" "90" "1" "94546299" "94546299" "subst" "0" "00006" "ABCA4_002405" "g.94546299T>C" "" "{PMID:Corradi 2022:35475888}, {DOI:Corradi 2022: 10.1167/iovs.63.4.20}" "" "" "effect on splicing predicted from in vitro analysis" "Germline" "" "" "0" "" "" "g.94080743T>C" "" "pathogenic (recessive)" ""
"0000933767" "3" "90" "1" "94546299" "94546299" "subst" "0" "00006" "ABCA4_002405" "g.94546299T>C" "" "{PMID:Corradi 2022:35475888}, {DOI:Corradi 2022: 10.1167/iovs.63.4.20}" "" "" "effect on splicing predicted from in vitro analysis" "Germline" "" "" "0" "" "" "g.94080743T>C" "" "pathogenic (recessive)" ""
"0000933768" "3" "90" "1" "94546299" "94546299" "subst" "0" "00006" "ABCA4_002405" "g.94546299T>C" "" "{PMID:Corradi 2022:35475888}, {DOI:Corradi 2022: 10.1167/iovs.63.4.20}" "" "" "effect on splicing predicted from in vitro analysis" "Germline" "" "" "0" "" "" "g.94080743T>C" "" "pathogenic (recessive)" ""
"0000933769" "3" "90" "1" "94546299" "94546299" "subst" "0" "00006" "ABCA4_002405" "g.94546299T>C" "" "{PMID:Corradi 2022:35475888}, {DOI:Corradi 2022: 10.1167/iovs.63.4.20}" "" "" "effect on splicing predicted from in vitro analysis" "Germline" "" "" "0" "" "" "g.94080743T>C" "" "pathogenic (recessive)" ""
"0000933770" "3" "90" "1" "94546299" "94546299" "subst" "0" "00006" "ABCA4_002405" "g.94546299T>C" "" "{PMID:Corradi 2022:35475888}, {DOI:Corradi 2022: 10.1167/iovs.63.4.20}" "" "" "effect on splicing predicted from in vitro analysis" "Germline" "" "" "0" "" "" "g.94080743T>C" "" "pathogenic (recessive)" ""
"0000933771" "3" "90" "1" "94546299" "94546299" "subst" "0" "00006" "ABCA4_002405" "g.94546299T>C" "" "{PMID:Corradi 2022:35475888}, {DOI:Corradi 2022: 10.1167/iovs.63.4.20}" "" "" "effect on splicing predicted from in vitro analysis" "Germline" "" "" "0" "" "" "g.94080743T>C" "" "pathogenic (recessive)" ""
"0000933772" "3" "90" "1" "94546299" "94546299" "subst" "0" "00006" "ABCA4_002405" "g.94546299T>C" "" "{PMID:Corradi 2022:35475888}, {DOI:Corradi 2022: 10.1167/iovs.63.4.20}" "" "" "effect on splicing predicted from in vitro analysis" "Germline" "" "" "0" "" "" "g.94080743T>C" "" "pathogenic (recessive)" ""
"0000933773" "3" "90" "1" "94546299" "94546299" "subst" "0" "00006" "ABCA4_002405" "g.94546299T>C" "" "{PMID:Corradi 2022:35475888}, {DOI:Corradi 2022: 10.1167/iovs.63.4.20}" "" "" "effect on splicing predicted from in vitro analysis" "Germline" "" "" "0" "" "" "g.94080743T>C" "" "pathogenic (recessive)" ""
"0000933774" "3" "90" "1" "94546299" "94546299" "subst" "0" "00006" "ABCA4_002405" "g.94546299T>C" "" "{PMID:Corradi 2022:35475888}, {DOI:Corradi 2022: 10.1167/iovs.63.4.20}" "" "" "effect on splicing predicted from in vitro analysis" "Germline" "" "" "0" "" "" "g.94080743T>C" "" "pathogenic (recessive)" ""
"0000933775" "3" "90" "1" "94546299" "94546299" "subst" "0" "00006" "ABCA4_002405" "g.94546299T>C" "" "{PMID:Corradi 2022:35475888}, {DOI:Corradi 2022: 10.1167/iovs.63.4.20}" "" "" "effect on splicing predicted from in vitro analysis" "Germline" "" "" "0" "" "" "g.94080743T>C" "" "pathogenic (recessive)" ""
"0000933776" "3" "90" "1" "94546299" "94546299" "subst" "0" "00006" "ABCA4_002405" "g.94546299T>C" "" "{PMID:Corradi 2022:35475888}, {DOI:Corradi 2022: 10.1167/iovs.63.4.20}" "" "" "effect on splicing predicted from in vitro analysis" "Germline" "" "" "0" "" "" "g.94080743T>C" "" "pathogenic (recessive)" ""
"0000933777" "3" "90" "1" "94546299" "94546299" "subst" "0" "00006" "ABCA4_002405" "g.94546299T>C" "" "{PMID:Corradi 2022:35475888}, {DOI:Corradi 2022: 10.1167/iovs.63.4.20}" "" "" "effect on splicing predicted from in vitro analysis" "Germline" "" "" "0" "" "" "g.94080743T>C" "" "pathogenic (recessive)" ""
"0000933778" "3" "90" "1" "94546299" "94546299" "subst" "0" "00006" "ABCA4_002405" "g.94546299T>C" "" "{PMID:Corradi 2022:35475888}, {DOI:Corradi 2022: 10.1167/iovs.63.4.20}" "" "" "effect on splicing predicted from in vitro analysis" "Germline" "" "" "0" "" "" "g.94080743T>C" "" "pathogenic (recessive)" ""
"0000933779" "3" "90" "1" "94546299" "94546299" "subst" "0" "00006" "ABCA4_002405" "g.94546299T>C" "" "{PMID:Corradi 2022:35475888}, {DOI:Corradi 2022: 10.1167/iovs.63.4.20}" "" "" "effect on splicing predicted from in vitro analysis" "Germline" "" "" "0" "" "" "g.94080743T>C" "" "pathogenic (recessive)" ""
"0000933780" "3" "90" "1" "94546299" "94546299" "subst" "0" "00006" "ABCA4_002405" "g.94546299T>C" "" "{PMID:Corradi 2022:35475888}, {DOI:Corradi 2022: 10.1167/iovs.63.4.20}" "" "" "effect on splicing predicted from in vitro analysis" "Germline" "" "" "0" "" "" "g.94080743T>C" "" "pathogenic (recessive)" ""
"0000933781" "3" "90" "1" "94546299" "94546299" "subst" "0" "00006" "ABCA4_002405" "g.94546299T>C" "" "{PMID:Corradi 2022:35475888}, {DOI:Corradi 2022: 10.1167/iovs.63.4.20}" "" "" "effect on splicing predicted from in vitro analysis" "Germline" "" "" "0" "" "" "g.94080743T>C" "" "pathogenic (recessive)" ""
"0000933782" "3" "90" "1" "94546299" "94546299" "subst" "0" "00006" "ABCA4_002405" "g.94546299T>C" "" "{PMID:Corradi 2022:35475888}, {DOI:Corradi 2022: 10.1167/iovs.63.4.20}" "" "" "effect on splicing predicted from in vitro analysis" "Germline" "" "" "0" "" "" "g.94080743T>C" "" "pathogenic (recessive)" ""
"0000933783" "3" "90" "1" "94546299" "94546299" "subst" "0" "00006" "ABCA4_002405" "g.94546299T>C" "" "{PMID:Corradi 2022:35475888}, {DOI:Corradi 2022: 10.1167/iovs.63.4.20}" "" "" "effect on splicing predicted from in vitro analysis" "Germline" "" "" "0" "" "" "g.94080743T>C" "" "pathogenic (recessive)" ""
"0000933784" "3" "90" "1" "94546299" "94546299" "subst" "0" "00006" "ABCA4_002405" "g.94546299T>C" "" "{PMID:Corradi 2022:35475888}, {DOI:Corradi 2022: 10.1167/iovs.63.4.20}" "" "" "effect on splicing predicted from in vitro analysis" "Germline" "" "" "0" "" "" "g.94080743T>C" "" "pathogenic (recessive)" ""
"0000933785" "3" "90" "1" "94546299" "94546299" "subst" "0" "00006" "ABCA4_002405" "g.94546299T>C" "" "{PMID:Corradi 2022:35475888}, {DOI:Corradi 2022: 10.1167/iovs.63.4.20}" "" "" "effect on splicing predicted from in vitro analysis" "Germline" "" "" "0" "" "" "g.94080743T>C" "" "pathogenic (recessive)" ""
"0000933786" "2" "90" "1" "94461663" "94461663" "subst" "0" "00006" "ABCA4_001558" "g.94461663A>T" "" "{PMID:Corradi 2022:35475888}, {DOI:Corradi 2022: 10.1167/iovs.63.4.20}" "" "" "" "Germline" "" "" "0" "" "" "g.93996107A>T" "" "pathogenic (recessive)" ""
"0000933787" "2" "90" "1" "94486835" "94486835" "subst" "0" "00006" "ABCA4_001018" "g.94486835G>A" "" "{PMID:Corradi 2022:35475888}, {DOI:Corradi 2022: 10.1167/iovs.63.4.20}" "" "" "" "Germline" "" "" "0" "" "" "g.94021279G>A" "" "pathogenic (recessive)" ""
"0000933788" "2" "90" "1" "94486835" "94486835" "subst" "0" "00006" "ABCA4_001018" "g.94486835G>A" "" "{PMID:Corradi 2022:35475888}, {DOI:Corradi 2022: 10.1167/iovs.63.4.20}" "" "" "" "Germline" "" "" "0" "" "" "g.94021279G>A" "" "pathogenic (recessive)" ""
"0000933789" "2" "90" "1" "94486835" "94486835" "subst" "0" "00006" "ABCA4_001018" "g.94486835G>A" "" "{PMID:Corradi 2022:35475888}, {DOI:Corradi 2022: 10.1167/iovs.63.4.20}" "" "" "" "Germline" "" "" "0" "" "" "g.94021279G>A" "" "pathogenic (recessive)" ""
"0000933790" "2" "90" "1" "94486835" "94486835" "subst" "0" "00006" "ABCA4_001018" "g.94486835G>A" "" "{PMID:Corradi 2022:35475888}, {DOI:Corradi 2022: 10.1167/iovs.63.4.20}" "" "" "" "Germline" "" "" "0" "" "" "g.94021279G>A" "" "pathogenic (recessive)" ""
"0000933791" "2" "90" "1" "94473807" "94473807" "subst" "0" "00006" "ABCA4_001279" "g.94473807C>G" "" "{PMID:Corradi 2022:35475888}, {DOI:Corradi 2022: 10.1167/iovs.63.4.20}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>G" "" "pathogenic (recessive)" ""
"0000933792" "2" "90" "1" "94473807" "94473807" "subst" "0" "00006" "ABCA4_001279" "g.94473807C>G" "" "{PMID:Corradi 2022:35475888}, {DOI:Corradi 2022: 10.1167/iovs.63.4.20}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>G" "" "pathogenic (recessive)" ""
"0000933793" "2" "90" "1" "94473807" "94473807" "subst" "0" "00006" "ABCA4_001279" "g.94473807C>G" "" "{PMID:Corradi 2022:35475888}, {DOI:Corradi 2022: 10.1167/iovs.63.4.20}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>G" "" "pathogenic (recessive)" ""
"0000933794" "2" "90" "1" "94486835" "94486835" "subst" "0" "00006" "ABCA4_001018" "g.94486835G>A" "" "{PMID:Corradi 2022:35475888}, {DOI:Corradi 2022: 10.1167/iovs.63.4.20}" "" "" "" "Germline" "" "" "0" "" "" "g.94021279G>A" "" "pathogenic (recessive)" ""
"0000933795" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "00006" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Corradi 2022:35475888}, {DOI:Corradi 2022: 10.1167/iovs.63.4.20}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000933796" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "00006" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Corradi 2022:35475888}, {DOI:Corradi 2022: 10.1167/iovs.63.4.20}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000933797" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "00006" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Corradi 2022:35475888}, {DOI:Corradi 2022: 10.1167/iovs.63.4.20}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000933798" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "00006" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Corradi 2022:35475888}, {DOI:Corradi 2022: 10.1167/iovs.63.4.20}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000933799" "2" "90" "1" "94486835" "94486835" "subst" "0" "00006" "ABCA4_001018" "g.94486835G>A" "" "{PMID:Corradi 2022:35475888}, {DOI:Corradi 2022: 10.1167/iovs.63.4.20}" "" "" "" "Germline" "" "" "0" "" "" "g.94021279G>A" "" "pathogenic (recessive)" ""
"0000933800" "2" "90" "1" "94508383" "94508383" "subst" "0" "00006" "ABCA4_001931" "g.94508383G>A" "" "{PMID:Corradi 2022:35475888}, {DOI:Corradi 2022: 10.1167/iovs.63.4.20}" "" "" "" "Germline" "" "" "0" "" "" "g.94042827G>A" "" "pathogenic (recessive)" ""
"0000933821" "0" "90" "1" "94463701" "94463701" "subst" "0" "00006" "ABCA4_002548" "g.94463701T>C" "" "{PMID:Rodríguez-Hidalgo 2023:37779911}, {DOI:Rodríguez-Hidalgo 2023:10.3389/fgene.2023.1234032}" "" "" "in vitro expression analysis midigene splice assay" "In vitro (cloned)" "" "" "0" "" "" "g.93998145T>C" "" "NA" ""
"0000934307" "0" "90" "1" "94546111" "94546111" "subst" "0" "04561" "ABCA4_002147" "g.94546111T>A" "" "{PMID:Kaltak 2023:37555651}" "" "" "functional analysis using an in vitro midi-gene splicing assay; predicted clinical effect severe" "In vitro (cloned)" "" "" "0" "" "" "g.94080555T>A" "" "NA" ""
"0000934308" "0" "90" "1" "94526276" "94526276" "subst" "0" "04561" "ABCA4_000765" "g.94526276C>T" "" "{PMID:Kaltak 2023:37555651}" "" "" "functional analysis using an in vitro midi-gene splicing assay; predicted clinical effect severe" "In vitro (cloned)" "" "" "0" "" "" "g.94060720C>T" "" "NA" ""
"0000934309" "0" "90" "1" "94526125" "94526125" "subst" "0" "04561" "ABCA4_000751" "g.94526125T>C" "" "{PMID:Kaltak 2023:37555651}" "" "" "functional analysis using an in vitro midi-gene splicing assay; predicted clinical effect severe" "In vitro (cloned)" "" "" "0" "" "" "g.94060569T>C" "" "NA" ""
"0000934310" "0" "90" "1" "94522266" "94522266" "subst" "0" "04561" "ABCA4_001469" "g.94522266G>A" "" "{PMID:Kaltak 2023:37555651}" "" "" "functional analysis using an in vitro midi-gene splicing assay; predicted clinical effect severe" "In vitro (cloned)" "" "" "0" "" "" "g.94056710G>A" "" "NA" ""
"0000934311" "0" "90" "1" "94508986" "94508986" "subst" "1.62537E-5" "04561" "ABCA4_001951" "g.94508986T>A" "" "{PMID:Kaltak 2023:37555651}" "" "" "functional analysis using an in vitro midi-gene splicing assay; predicted clinical effect moderately severe" "In vitro (cloned)" "" "" "0" "" "" "g.94043430T>A" "" "NA" ""
"0000934312" "0" "90" "1" "94506880" "94506880" "subst" "0" "04561" "ABCA4_000865" "g.94506880C>A" "" "{PMID:Kaltak 2023:37555651}" "" "" "functional analysis using an in vitro midi-gene splicing assay; predicted clinical effect severe" "In vitro (cloned)" "" "" "0" "" "" "g.94041324C>A" "" "NA" ""
"0000934313" "0" "90" "1" "94506825" "94506825" "subst" "0" "04561" "ABCA4_001898" "g.94506825G>A" "" "{PMID:Kaltak 2023:37555651}" "" "" "functional analysis using an in vitro midi-gene splicing assay; predicted clinical effect severe" "In vitro (cloned)" "" "" "0" "" "" "g.94041269G>A" "" "NA" ""
"0000934314" "0" "90" "1" "94502811" "94502811" "subst" "0" "04561" "ABCA4_001877" "g.94502811T>C" "" "{PMID:Kaltak 2023:37555651}" "" "" "functional analysis using an in vitro midi-gene splicing assay; predicted clinical effect severe" "In vitro (cloned)" "" "" "0" "" "" "g.94037255T>C" "" "NA" ""
"0000934315" "0" "10" "1" "94496602" "94496602" "subst" "0.0234538" "04561" "ABCA4_000913" "g.94496602G>T" "" "{PMID:Kaltak 2023:37555651}" "" "" "functional analysis using an in vitro midi-gene splicing assay; predicted clinical effect benign" "In vitro (cloned)" "" "" "0" "" "" "g.94031046G>T" "" "NA" ""
"0000934316" "0" "90" "1" "94495094" "94495094" "subst" "0" "04561" "ABCA4_001812" "g.94495094G>T" "" "{PMID:Kaltak 2023:37555651}" "" "" "functional analysis using an in vitro midi-gene splicing assay; predicted clinical effect severe" "In vitro (cloned)" "" "" "0" "" "" "g.94029538G>T" "" "NA" ""
"0000934317" "0" "50" "1" "94495086" "94495086" "subst" "0" "04561" "ABCA4_001811" "g.94495086G>A" "" "{PMID:Kaltak 2023:37555651}" "" "" "functional analysis using an in vitro midi-gene splicing assay; predicted clinical effect mild" "In vitro (cloned)" "" "" "0" "" "" "g.94029530G>A" "" "NA" ""
"0000934318" "0" "50" "1" "94495083" "94495083" "subst" "0.000124542" "04561" "ABCA4_000542" "g.94495083G>A" "" "{PMID:Kaltak 2023:37555651}" "" "" "functional analysis using an in vitro midi-gene splicing assay; predicted clinical effect mild" "In vitro (cloned)" "" "" "0" "" "" "g.94029527G>A" "" "NA" ""
"0000934319" "0" "90" "1" "94495071" "94495071" "subst" "6.39479E-5" "04561" "ABCA4_000997" "g.94495071C>T" "" "{PMID:Kaltak 2023:37555651}" "" "" "functional analysis using an in vitro midi-gene splicing assay; predicted clinical effect severe" "In vitro (cloned)" "" "" "0" "" "" "g.94029515C>T" "" "NA" ""
"0000934320" "0" "50" "1" "94485246" "94485246" "subst" "0" "04561" "ABCA4_000474" "g.94485246G>C" "" "{PMID:Kaltak 2023:37555651}" "" "" "functional analysis using an in vitro midi-gene splicing assay; predicted clinical effect mild" "In vitro (cloned)" "" "" "0" "" "" "g.94019690G>C" "" "NA" ""
"0000934321" "0" "10" "1" "94480192" "94480192" "subst" "0" "04561" "ABCA4_001488" "g.94480192G>C" "" "{PMID:Kaltak 2023:37555651}" "" "" "functional analysis using an in vitro midi-gene splicing assay; predicted clinical effect benign" "In vitro (cloned)" "" "" "0" "" "" "g.94014636G>C" "" "NA" ""
"0000934322" "0" "90" "1" "94467489" "94467489" "subst" "0" "04561" "ABCA4_001603" "g.94467489G>A" "" "{PMID:Kaltak 2023:37555651}" "" "" "functional analysis using an in vitro midi-gene splicing assay; predicted clinical effect severe" "In vitro (cloned)" "" "" "0" "" "" "g.94001933G>A" "" "NA" ""
"0000934323" "0" "90" "1" "94467424" "94467424" "subst" "0" "04561" "ABCA4_001592" "g.94467424A>T" "" "{PMID:Kaltak 2023:37555651}" "" "" "functional analysis using an in vitro midi-gene splicing assay; predicted clinical effect severe" "In vitro (cloned)" "" "" "0" "" "" "g.94001868A>T" "" "NA" ""
"0000934324" "0" "90" "1" "94466605" "94466605" "subst" "0" "04561" "ABCA4_000157" "g.94466605G>C" "" "{PMID:Kaltak 2023:37555651}" "" "" "functional analysis using an in vitro midi-gene splicing assay; predicted clinical effect severe" "In vitro (cloned)" "" "" "0" "" "" "g.94001049G>C" "" "NA" ""
"0000936739" "10" "90" "1" "94489001" "94489001" "subst" "0" "00006" "ABCA4_002428" "g.94489001T>C" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94023445T>C" "" "pathogenic (recessive)" ""
"0000936740" "2" "70" "1" "94473855" "94473855" "subst" "0" "00006" "ABCA4_001649" "g.94473855T>C" "" "{PMID:Tian 2024:37774808}" "" "[5603A>T;5836-2A>G]" "" "Germline" "yes" "" "0" "" "" "g.94008299T>C" "" "likely pathogenic (recessive)" ""
"0000936742" "10" "90" "1" "94457073" "94465733" ";" "0" "00006" "ABCA4_002408" "g.[94457073_94465733inv;94465734_94465737del]" "" "{PMID:Tian 2024:37774808}" "" "[6479+655_6479+658delCTCA;6479+659_6822+1720inv]" "" "Germline" "" "" "0" "" "" "g.[93991517_94000177inv;94000178_94000181del]" "" "pathogenic (recessive)" ""
"0000936743" "2" "90" "1" "94578589" "94578594" "del" "0" "00006" "ABCA4_000249" "g.94578589_94578594del" "" "{PMID:Tian 2024:37774808}" "" "101_106delCTTTAT" "" "Germline" "" "" "0" "" "" "g.94113033_94113038del" "" "pathogenic (recessive)" ""
"0000936744" "2" "90" "1" "94485136" "94485136" "dup" "0" "00006" "ABCA4_001724" "g.94485136dup" "" "{PMID:Tian 2024:37774808}" "" "5196+2dupT" "" "Germline" "" "" "0" "" "" "g.94019580dup" "" "pathogenic (recessive)" ""
"0000936745" "2" "90" "1" "94466507" "94466507" "subst" "0" "00006" "ABCA4_002414" "g.94466507T>C" "" "{PMID:Tian 2024:37774808}" "" "" "" "Germline" "" "" "0" "" "" "g.94000951T>C" "" "pathogenic (recessive)" ""
"0000936949" "0" "90" "1" "94546118" "94546118" "subst" "8.13326E-6" "01251" "ABCA4_000082" "g.94546118A>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94080562A>C" "" "pathogenic (recessive)" ""
"0000936950" "0" "90" "1" "94473278" "94473278" "del" "3.25908E-5" "01251" "ABCA4_000392" "g.94473278del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94007722del" "" "pathogenic (recessive)" ""
"0000936951" "0" "50" "1" "94476378" "94476378" "subst" "0.000499679" "01251" "ABCA4_000412" "g.94476378G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94010822G>A" "" "VUS" ""
"0000936952" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01251" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000936953" "0" "90" "1" "94497496" "94497496" "del" "0" "01251" "ABCA4_001859" "g.94497496del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94031940del" "" "pathogenic (recessive)" ""
"0000936954" "0" "50" "1" "94578603" "94578603" "subst" "0" "01251" "ABCA4_002242" "g.94578603A>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94113047A>C" "" "VUS" ""
"0000936955" "1" "70" "1" "94528226" "94528226" "subst" "0" "01251" "ABCA4_002077" "g.94528226A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94062670A>G" "" "likely pathogenic (recessive)" ""
"0000936956" "0" "90" "1" "94528780" "94528780" "subst" "4.06171E-6" "01251" "ABCA4_000299" "g.94528780C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94063224C>T" "" "pathogenic (recessive)" ""
"0000936957" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000936958" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01251" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000936959" "1" "90" "1" "94508435" "94508436" "dup" "0" "01251" "ABCA4_000998" "g.94508435_94508436dup" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94042879_94042880dup" "" "pathogenic (recessive)" ""
"0000936960" "1" "70" "1" "94486888" "94486888" "subst" "3.65548E-5" "01251" "ABCA4_000137" "g.94486888G>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94021332G>C" "" "likely pathogenic (recessive)" ""
"0000936961" "1" "70" "1" "94502346" "94502346" "subst" "0" "01251" "ABCA4_000593" "g.94502346T>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94036790T>C" "" "likely pathogenic (recessive)" ""
"0000936962" "1" "90" "1" "94495071" "94495071" "subst" "6.39479E-5" "01251" "ABCA4_000997" "g.94495071C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94029515C>T" "" "pathogenic (recessive)" ""
"0000936963" "1" "90" "1" "94577102" "94577102" "subst" "4.06161E-6" "01251" "ABCA4_000033" "g.94577102C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94111546C>T" "" "pathogenic (recessive)" ""
"0000936964" "0" "90" "1" "94480248" "94480248" "del" "0" "01251" "ABCA4_001056" "g.94480248del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94014692del" "" "pathogenic (recessive)" ""
"0000936965" "0" "90" "1" "94476351" "94476351" "subst" "0.000296608" "01251" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "pathogenic (recessive)" ""
"0000936966" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01251" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000936967" "0" "90" "1" "94577093" "94577093" "subst" "0" "01251" "ABCA4_000178" "g.94577093G>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94111537G>C" "" "pathogenic (recessive)" ""
"0000936968" "0" "70" "1" "94564430" "94564430" "subst" "0" "01251" "ABCA4_002182" "g.94564430A>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94098874A>C" "" "likely pathogenic (recessive)" ""
"0000936969" "1" "90" "1" "94508386" "94508386" "subst" "1.62443E-5" "01251" "ABCA4_000642" "g.94508386C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94042830C>T" "" "pathogenic (recessive)" ""
"0000936970" "0" "90" "1" "94564463" "94564463" "subst" "0" "01251" "ABCA4_000381" "g.94564463T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94098907T>A" "" "pathogenic (recessive)" ""
"0000936971" "0" "90" "1" "94510248" "94510248" "subst" "0.000544123" "01251" "ABCA4_000107" "g.94510248C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94044692C>G" "" "pathogenic (recessive)" ""
"0000936972" "1" "90" "1" "94528806" "94528806" "subst" "0.000150298" "01251" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94063250A>G" "" "pathogenic (recessive)" ""
"0000936973" "1" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01251" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000936974" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01251" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000936975" "1" "70" "1" "94486888" "94486888" "subst" "3.65548E-5" "01251" "ABCA4_000137" "g.94486888G>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94021332G>C" "" "likely pathogenic (recessive)" ""
"0000936976" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01251" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000936977" "1" "70" "1" "94486888" "94486888" "subst" "3.65548E-5" "01251" "ABCA4_000137" "g.94486888G>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94021332G>C" "" "likely pathogenic (recessive)" ""
"0000936978" "1" "90" "1" "94577093" "94577093" "subst" "8.12394E-6" "01251" "ABCA4_000147" "g.94577093G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94111537G>A" "" "pathogenic (recessive)" ""
"0000936979" "0" "90" "1" "94486895" "94486895" "subst" "3.24923E-5" "01251" "ABCA4_000484" "g.94486895C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94021339C>T" "" "pathogenic (recessive)" ""
"0000936980" "1" "90" "1" "94512499" "94512499" "subst" "0.000130029" "01251" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94046943T>C" "" "pathogenic (recessive)" ""
"0000936981" "1" "90" "1" "94508435" "94508436" "dup" "0" "01251" "ABCA4_000998" "g.94508435_94508436dup" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94042879_94042880dup" "" "pathogenic (recessive)" ""
"0000936982" "0" "90" "1" "94526212" "94526212" "subst" "1.22012E-5" "01251" "ABCA4_000075" "g.94526212G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94060656G>A" "" "pathogenic (recessive)" ""
"0000936983" "0" "90" "1" "94544895" "94544895" "subst" "1.62455E-5" "01251" "ABCA4_000329" "g.94544895G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94079339G>A" "" "pathogenic (recessive)" ""
"0000936984" "0" "30" "1" "94505604" "94505604" "subst" "0.00645586" "01251" "ABCA4_000092" "g.94505604A>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94040048A>C" "" "likely benign" ""
"0000936985" "1" "90" "1" "94528819" "94528819" "subst" "2.03128E-5" "01251" "ABCA4_000078" "g.94528819G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94063263G>A" "" "pathogenic (recessive)" ""
"0000936986" "1" "50" "1" "94564504" "94564504" "subst" "0" "01251" "ABCA4_002190" "g.94564504C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94098948C>T" "" "VUS" ""
"0000936987" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01251" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94062710G>A" "" "pathogenic (recessive)" ""
"0000936988" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01251" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94062710G>A" "" "pathogenic (recessive)" ""
"0000936989" "0" "90" "1" "94510248" "94510248" "subst" "0.000544123" "01251" "ABCA4_000107" "g.94510248C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94044692C>G" "" "pathogenic (recessive)" ""
"0000936990" "0" "70" "1" "94514424" "94514424" "subst" "4.06105E-6" "01251" "ABCA4_000972" "g.94514424C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94048868C>T" "" "likely pathogenic (recessive)" ""
"0000936991" "1" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01251" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000936992" "0" "90" "1" "94546118" "94546118" "subst" "8.13326E-6" "01251" "ABCA4_000082" "g.94546118A>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94080562A>C" "" "pathogenic (recessive)" ""
"0000936993" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01251" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000936994" "1" "90" "1" "94528806" "94528806" "subst" "0.000150298" "01251" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94063250A>G" "" "pathogenic (recessive)" ""
"0000936995" "0" "90" "1" "94486794" "94486794" "subst" "0" "01251" "ABCA4_000478" "g.94486794A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94021238A>G" "" "pathogenic (recessive)" ""
"0000936996" "3" "50" "1" "94502765" "94502765" "subst" "0" "01251" "ABCA4_000600" "g.94502765A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94037209A>G" "" "VUS" ""
"0000936997" "1" "90" "1" "94512499" "94512499" "subst" "0.000130029" "01251" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94046943T>C" "" "pathogenic (recessive)" ""
"0000936998" "0" "90" "1" "94496666" "94496666" "subst" "0.000219568" "01251" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "pathogenic (recessive)" ""
"0000936999" "1" "50" "1" "94544182" "94544182" "subst" "0" "01251" "ABCA4_002737" "g.94544182G>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94078626G>T" "" "VUS" ""
"0000937000" "0" "50" "1" "94487404" "94487404" "subst" "0.00244055" "01251" "ABCA4_000497" "g.94487404C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94021848C>T" "" "VUS" ""
"0000937001" "0" "50" "1" "94490562" "94490562" "del" "0" "01251" "ABCA4_002655" "g.94490562del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94025006del" "" "VUS" ""
"0000937002" "1" "70" "1" "94466624" "94466624" "subst" "0.0014345" "01251" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "no variant 2nd chromosome" "Germline" "yes" "" "0" "" "" "g.94001068C>T" "" "likely pathogenic (recessive)" ""
"0000937003" "0" "50" "1" "94487490" "94487490" "subst" "0.00122268" "01251" "ABCA4_000506" "g.94487490A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94021934A>G" "" "VUS" ""
"0000937004" "1" "50" "1" "94546079" "94546079" "subst" "1.62637E-5" "01251" "ABCA4_002740" "g.94546079C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94080523C>T" "" "VUS" ""
"0000937005" "1" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01251" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000937006" "1" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01251" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic (recessive)" ""
"0000937007" "1" "50" "1" "94528757" "94528757" "subst" "0" "01251" "ABCA4_002725" "g.94528757A>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94063201A>T" "" "VUS" ""
"0000937008" "1" "90" "1" "94528780" "94528780" "subst" "4.06171E-6" "01251" "ABCA4_000299" "g.94528780C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94063224C>T" "" "pathogenic (recessive)" ""
"0000937009" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000937010" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01251" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000937011" "0" "90" "1" "94577010" "94577010" "subst" "1.22004E-5" "01251" "ABCA4_000224" "g.94577010T>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94111454T>C" "" "pathogenic (recessive)" ""
"0000937012" "1" "90" "1" "94577010" "94577010" "subst" "1.22004E-5" "01251" "ABCA4_000224" "g.94577010T>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94111454T>C" "" "pathogenic (recessive)" ""
"0000937013" "1" "50" "1" "94487490" "94487490" "subst" "0.00122268" "01251" "ABCA4_000506" "g.94487490A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94021934A>G" "" "VUS" ""
"0000937014" "0" "90" "1" "94480241" "94480241" "subst" "7.71705E-5" "01251" "ABCA4_000446" "g.94480241G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94014685G>A" "" "pathogenic (recessive)" ""
"0000937015" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000937016" "1" "50" "1" "94543278" "94543278" "subst" "0.000178952" "01251" "ABCA4_000004" "g.94543278G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94077722G>A" "" "VUS" ""
"0000937017" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01251" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000937018" "1" "50" "1" "94508386" "94508386" "subst" "1.62443E-5" "01251" "ABCA4_000642" "g.94508386C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94042830C>T" "" "VUS" ""
"0000937019" "0" "90" "1" "94495083" "94495083" "subst" "0.000124542" "01251" "ABCA4_000542" "g.94495083G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94029527G>A" "" "pathogenic (recessive)" ""
"0000937020" "0" "50" "1" "94578601" "94578601" "subst" "4.0657E-5" "01251" "ABCA4_002757" "g.94578601C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94113045C>T" "" "VUS" ""
"0000937021" "1" "70" "1" "94528217" "94528217" "subst" "0" "01251" "ABCA4_000272" "g.94528217C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94062661C>T" "" "likely pathogenic (recessive)" ""
"0000937022" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000937023" "1" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01251" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000937024" "0" "70" "1" "94467476" "94467476" "subst" "0" "01251" "ABCA4_000781" "g.94467476C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94001920C>T" "" "likely pathogenic (recessive)" ""
"0000937025" "3" "90" "1" "94473278" "94473278" "del" "3.25908E-5" "01251" "ABCA4_000392" "g.94473278del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94007722del" "" "pathogenic (recessive)" ""
"0000937026" "1" "90" "1" "94497495" "94497495" "del" "0" "01251" "ABCA4_000584" "g.94497495del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94031939del" "" "pathogenic (recessive)" ""
"0000937027" "1" "90" "1" "94568687" "94568687" "subst" "1.62641E-5" "01251" "ABCA4_000024" "g.94568687G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94103131G>A" "" "pathogenic (recessive)" ""
"0000937028" "0" "50" "1" "94488959" "94488959" "subst" "0" "01251" "ABCA4_002648" "g.94488959G>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94023403G>T" "" "VUS" ""
"0000937029" "1" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01251" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000937030" "0" "50" "1" "94568627" "94568627" "subst" "0.000422314" "01251" "ABCA4_000207" "g.94568627C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94103071C>T" "" "VUS" ""
"0000937031" "1" "90" "1" "94564484" "94564484" "subst" "0.000110199" "01251" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94098928G>A" "" "pathogenic (recessive)" ""
"0000937032" "1" "90" "1" "94528806" "94528806" "subst" "0.000150298" "01251" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94063250A>G" "" "pathogenic (recessive)" ""
"0000937033" "1" "90" "1" "94512499" "94512499" "subst" "0.000130029" "01251" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94046943T>C" "" "pathogenic (recessive)" ""
"0000937034" "1" "90" "1" "94497495" "94497495" "del" "0" "01251" "ABCA4_000584" "g.94497495del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94031939del" "" "pathogenic (recessive)" ""
"0000937035" "0" "50" "1" "94568675" "94568675" "subst" "0.00146249" "01251" "ABCA4_000210" "g.94568675T>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94103119T>C" "" "VUS" ""
"0000937036" "0" "90" "1" "94508386" "94508386" "subst" "1.62443E-5" "01251" "ABCA4_000642" "g.94508386C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94042830C>T" "" "pathogenic (recessive)" ""
"0000937037" "1" "50" "1" "94546208" "94546208" "del" "0" "01251" "ABCA4_002742" "g.94546208del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94080652del" "" "VUS" ""
"0000937038" "1" "90" "1" "94508455" "94508455" "subst" "8.12434E-6" "01251" "ABCA4_000649" "g.94508455C>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94042899C>A" "" "pathogenic (recessive)" ""
"0000937039" "1" "70" "1" "94480146" "94480146" "subst" "2.84273E-5" "01251" "ABCA4_000122" "g.94480146T>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94014590T>C" "" "likely pathogenic (recessive)" ""
"0000937040" "0" "90" "1" "94496666" "94496666" "subst" "0.000219568" "01251" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "pathogenic (recessive)" ""
"0000937041" "0" "90" "1" "94496666" "94496666" "subst" "0.000219568" "01251" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "pathogenic (recessive)" ""
"0000937042" "0" "90" "1" "94564432" "94564432" "subst" "0" "01251" "ABCA4_001029" "g.94564432A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94098876A>G" "" "pathogenic (recessive)" ""
"0000937043" "0" "30" "1" "94474432" "94474432" "subst" "2.85339E-5" "01251" "ABCA4_001663" "g.94474432A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008876A>G" "" "likely benign" ""
"0000937044" "1" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01251" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000937045" "1" "90" "1" "94486896" "94486896" "subst" "3.65562E-5" "01251" "ABCA4_000085" "g.94486896G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94021340G>A" "" "pathogenic (recessive)" ""
"0000937046" "3" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01251" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000937047" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01251" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000937048" "1" "90" "1" "94508386" "94508386" "subst" "0" "01251" "ABCA4_000643" "g.94508386C>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94042830C>A" "" "pathogenic (recessive)" ""
"0000937049" "1" "90" "1" "94508386" "94508386" "subst" "0" "01251" "ABCA4_000643" "g.94508386C>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94042830C>A" "" "pathogenic (recessive)" ""
"0000937050" "0" "90" "1" "94473278" "94473278" "del" "3.25908E-5" "01251" "ABCA4_000392" "g.94473278del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94007722del" "" "pathogenic (recessive)" ""
"0000937051" "0" "90" "1" "94526212" "94526212" "subst" "1.22012E-5" "01251" "ABCA4_000075" "g.94526212G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94060656G>A" "" "pathogenic (recessive)" ""
"0000937052" "1" "90" "1" "94496008" "94496008" "subst" "2.03056E-5" "01251" "ABCA4_000148" "g.94496008C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94030452C>T" "" "pathogenic (recessive)" ""
"0000937053" "1" "90" "1" "94485196" "94485197" "delins" "0" "01251" "ABCA4_001727" "g.94485196_94485197delinsCT" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94019640_94019641delinsCT" "" "pathogenic (recessive)" ""
"0000937054" "0" "90" "1" "94577010" "94577010" "subst" "1.22004E-5" "01251" "ABCA4_000224" "g.94577010T>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94111454T>C" "" "pathogenic (recessive)" ""
"0000937055" "1" "70" "1" "94512602" "94512602" "subst" "0.000369717" "01251" "ABCA4_000052" "g.94512602C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94047046C>T" "" "likely pathogenic (recessive)" ""
"0000937056" "1" "50" "1" "94564452" "94564452" "del" "0" "01251" "ABCA4_002749" "g.94564452del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94098896del" "" "VUS" ""
"0000937057" "1" "50" "1" "94564452" "94564452" "del" "0" "01251" "ABCA4_002749" "g.94564452del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94098896del" "" "VUS" ""
"0000937058" "1" "50" "1" "94520783" "94520783" "subst" "0" "01251" "ABCA4_000722" "g.94520783A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94055227A>G" "" "VUS" ""
"0000937059" "0" "90" "1" "94496666" "94496666" "subst" "0.000219568" "01251" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "pathogenic (recessive)" ""
"0000937060" "0" "90" "1" "94508435" "94508436" "dup" "0" "01251" "ABCA4_000998" "g.94508435_94508436dup" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94042879_94042880dup" "" "pathogenic (recessive)" ""
"0000937061" "3" "90" "1" "94546185" "94546185" "del" "0" "01251" "ABCA4_000350" "g.94546185del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94080629del" "" "pathogenic (recessive)" ""
"0000937062" "0" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01251" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic (recessive)" ""
"0000937063" "0" "50" "1" "94480247" "94480247" "subst" "0" "01251" "ABCA4_002627" "g.94480247C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94014691C>T" "" "VUS" ""
"0000937064" "0" "70" "1" "94546099" "94546099" "subst" "0" "01251" "ABCA4_001389" "g.94546099T>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94080543T>C" "" "likely pathogenic (recessive)" ""
"0000937065" "0" "90" "1" "94484001" "94484001" "subst" "0" "01251" "ABCA4_000016" "g.94484001C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94018445C>T" "" "pathogenic (recessive)" ""
"0000937066" "1" "90" "1" "94508356" "94508356" "subst" "0" "01251" "ABCA4_000635" "g.94508356T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94042800T>A" "" "pathogenic (recessive)" ""
"0000937067" "0" "90" "1" "94520791" "94520791" "subst" "0" "01251" "ABCA4_000191" "g.94520791C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94055235C>T" "" "pathogenic (recessive)" ""
"0000937068" "0" "90" "1" "94564484" "94564484" "subst" "0.000110199" "01251" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94098928G>A" "" "pathogenic (recessive)" ""
"0000937069" "1" "90" "1" "94564484" "94564484" "subst" "0.000110199" "01251" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94098928G>A" "" "pathogenic (recessive)" ""
"0000937070" "0" "50" "1" "94486794" "94486794" "subst" "0" "01251" "ABCA4_000478" "g.94486794A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94021238A>G" "" "VUS" ""
"0000937071" "1" "30" "1" "94495037" "94495037" "subst" "0.000830658" "01251" "ABCA4_000908" "g.94495037C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94029481C>G" "" "likely benign" ""
"0000937072" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01251" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000937073" "3" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01251" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000937074" "0" "50" "1" "94496509" "94496509" "subst" "0.00475243" "01251" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94030953C>T" "" "VUS" ""
"0000937075" "1" "90" "1" "94508435" "94508436" "dup" "0" "01251" "ABCA4_000998" "g.94508435_94508436dup" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94042879_94042880dup" "" "pathogenic (recessive)" ""
"0000937076" "1" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01251" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000937077" "0" "90" "1" "94506789" "94506789" "del" "0" "01251" "ABCA4_001086" "g.94506789del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94041233del" "" "pathogenic (recessive)" ""
"0000937078" "1" "90" "1" "94520811" "94520811" "subst" "0" "01251" "ABCA4_002027" "g.94520811G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94055255G>A" "" "pathogenic (recessive)" ""
"0000937079" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01251" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000937080" "0" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01251" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic (recessive)" ""
"0000937081" "3" "50" "1" "94520841" "94520841" "subst" "0" "01251" "ABCA4_002710" "g.94520841C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94055285C>G" "" "VUS" ""
"0000937082" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01251" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000937083" "0" "50" "1" "94512484" "94512484" "subst" "0" "01251" "ABCA4_000680" "g.94512484G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94046928G>A" "" "VUS" ""
"0000937084" "3" "90" "1" "94473278" "94473278" "del" "3.25908E-5" "01251" "ABCA4_000392" "g.94473278del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94007722del" "" "pathogenic (recessive)" ""
"0000937085" "1" "90" "1" "94471056" "94471056" "subst" "2.84398E-5" "01251" "ABCA4_000050" "g.94471056G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "no variant 2nd chromosome" "Germline" "yes" "" "0" "" "" "g.94005500G>A" "" "pathogenic (recessive)" ""
"0000937086" "0" "90" "1" "94548932" "94548932" "del" "4.06587E-6" "01251" "ABCA4_001022" "g.94548932del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94083376del" "" "pathogenic (recessive)" ""
"0000937087" "1" "50" "1" "94508969" "94508969" "subst" "0" "01251" "ABCA4_002688" "g.94508969G>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94043413G>T" "" "VUS" ""
"0000937088" "3" "90" "1" "94473278" "94473278" "del" "3.25908E-5" "01251" "ABCA4_000392" "g.94473278del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94007722del" "" "pathogenic (recessive)" ""
"0000937089" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01251" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000937090" "0" "70" "1" "94512602" "94512602" "subst" "0.000369717" "01251" "ABCA4_000052" "g.94512602C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94047046C>T" "" "likely pathogenic (recessive)" ""
"0000937091" "1" "90" "1" "94480248" "94480248" "del" "0" "01251" "ABCA4_001056" "g.94480248del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94014692del" "" "pathogenic (recessive)" ""
"0000937092" "1" "50" "1" "94564349" "94564548" "del" "0" "01251" "ABCA4_002747" "g.(94548998_94564349)_(94564548_94568570)del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.(94083442_94098793)_(94098992_94103014)del" "" "VUS" ""
"0000937093" "1" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01251" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000937094" "0" "90" "1" "94495009" "94495009" "dup" "0" "01251" "ABCA4_000087" "g.94495009dup" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94029453dup" "" "pathogenic (recessive)" ""
"0000937095" "1" "90" "1" "94508435" "94508436" "dup" "0" "01251" "ABCA4_000998" "g.94508435_94508436dup" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94042879_94042880dup" "" "pathogenic (recessive)" ""
"0000937096" "0" "50" "1" "94543443" "94543443" "subst" "0" "01251" "ABCA4_002124" "g.94543443C>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94077887C>A" "" "VUS" ""
"0000937097" "1" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01251" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000937098" "1" "90" "1" "94496008" "94496008" "subst" "2.03056E-5" "01251" "ABCA4_000148" "g.94496008C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94030452C>T" "" "pathogenic (recessive)" ""
"0000937099" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01251" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000937100" "1" "70" "1" "94520705" "94520705" "subst" "0" "01251" "ABCA4_000714" "g.94520705T>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94055149T>C" "" "likely pathogenic (recessive)" ""
"0000937101" "1" "90" "1" "94526296" "94526296" "subst" "1.64555E-5" "01251" "ABCA4_000768" "g.94526296G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94060740G>A" "" "pathogenic (recessive)" ""
"0000937102" "0" "90" "1" "94528251" "94528251" "subst" "2.84824E-5" "01251" "ABCA4_000281" "g.94528251C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94062695C>T" "" "pathogenic (recessive)" ""
"0000937103" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01251" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000937104" "1" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01251" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000937105" "0" "90" "1" "94496666" "94496666" "subst" "0.000219568" "01251" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "pathogenic (recessive)" ""
"0000937106" "1" "90" "1" "94497495" "94497495" "del" "0" "01251" "ABCA4_000584" "g.94497495del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94031939del" "" "pathogenic (recessive)" ""
"0000937107" "1" "90" "1" "94480232" "94480232" "subst" "0" "01251" "ABCA4_000444" "g.94480232G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94014676G>A" "" "pathogenic (recessive)" ""
"0000937108" "1" "90" "1" "94480232" "94480232" "subst" "0" "01251" "ABCA4_000444" "g.94480232G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94014676G>A" "" "pathogenic (recessive)" ""
"0000937109" "0" "90" "1" "94496583" "94496583" "subst" "2.03092E-5" "01251" "ABCA4_000190" "g.94496583A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94031027A>G" "" "pathogenic (recessive)" ""
"0000937110" "0" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01251" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic (recessive)" ""
"0000937111" "0" "90" "1" "94544895" "94544895" "subst" "1.62455E-5" "01251" "ABCA4_000329" "g.94544895G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94079339G>A" "" "pathogenic (recessive)" ""
"0000937112" "0" "90" "1" "94577010" "94577010" "subst" "4.06679E-6" "01251" "ABCA4_000225" "g.94577010T>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94111454T>G" "" "pathogenic (recessive)" ""
"0000937113" "1" "50" "1" "94543332" "94543332" "subst" "0" "01251" "ABCA4_002734" "g.94543332G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94077776G>A" "" "VUS" ""
"0000937114" "3" "70" "1" "94578529" "94578529" "subst" "0" "01251" "ABCA4_000245" "g.94578529A>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94112973A>C" "" "likely pathogenic (recessive)" ""
"0000937115" "0" "90" "1" "94577010" "94577010" "subst" "1.22004E-5" "01251" "ABCA4_000224" "g.94577010T>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94111454T>C" "" "pathogenic (recessive)" ""
"0000937116" "0" "90" "1" "94564484" "94564484" "subst" "0.000110199" "01251" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94098928G>A" "" "pathogenic (recessive)" ""
"0000937117" "0" "90" "1" "94544895" "94544895" "subst" "1.62455E-5" "01251" "ABCA4_000329" "g.94544895G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94079339G>A" "" "pathogenic (recessive)" ""
"0000937118" "1" "50" "1" "94502907" "94502907" "subst" "0" "01251" "ABCA4_002382" "g.94502907C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94037351C>T" "" "VUS" ""
"0000937119" "1" "90" "1" "94564484" "94564484" "subst" "0.000110199" "01251" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94098928G>A" "" "pathogenic (recessive)" ""
"0000937120" "1" "50" "1" "94520760" "94520760" "subst" "0" "01251" "ABCA4_001080" "g.94520760C>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94055204C>A" "" "VUS" ""
"0000937121" "1" "50" "1" "94568675" "94568675" "subst" "0.00146249" "01251" "ABCA4_000210" "g.94568675T>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94103119T>C" "" "VUS" ""
"0000937122" "1" "50" "1" "94568675" "94568675" "subst" "0.00146249" "01251" "ABCA4_000210" "g.94568675T>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94103119T>C" "" "VUS" ""
"0000937123" "1" "90" "1" "94497495" "94497495" "del" "0" "01251" "ABCA4_000584" "g.94497495del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94031939del" "" "pathogenic (recessive)" ""
"0000937124" "1" "50" "1" "94496032" "94496032" "subst" "0" "01251" "ABCA4_002663" "g.94496032A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94030476A>G" "" "VUS" ""
"0000937125" "1" "90" "1" "94492937" "94492937" "subst" "0" "01251" "ABCA4_000529" "g.94492937G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94027381G>A" "" "pathogenic (recessive)" ""
"0000937126" "1" "70" "1" "94497334" "94497334" "subst" "0" "01251" "ABCA4_000574" "g.94497334C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94031778C>T" "" "likely pathogenic (recessive)" ""
"0000937127" "0" "50" "1" "94512575" "94512575" "del" "0" "01251" "ABCA4_002701" "g.94512575del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94047019del" "" "VUS" ""
"0000937128" "1" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01251" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000937129" "1" "90" "1" "94486895" "94486895" "subst" "3.24923E-5" "01251" "ABCA4_000484" "g.94486895C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94021339C>T" "" "pathogenic (recessive)" ""
"0000937130" "0" "90" "1" "94486895" "94486895" "subst" "3.24923E-5" "01251" "ABCA4_000484" "g.94486895C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94021339C>T" "" "pathogenic (recessive)" ""
"0000937131" "0" "90" "1" "94490567" "94490567" "subst" "5.68528E-5" "01251" "ABCA4_000026" "g.94490567G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94025011G>A" "" "pathogenic (recessive)" ""
"0000937132" "0" "50" "1" "94512603" "94512603" "subst" "0" "01251" "ABCA4_002702" "g.94512603G>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94047047G>T" "" "VUS" ""
"0000937133" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01251" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000937134" "3" "50" "1" "94495078" "94495078" "subst" "0" "01251" "ABCA4_002662" "g.94495078A>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94029522A>T" "" "VUS" ""
"0000937135" "1" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01251" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000937136" "1" "90" "1" "94508322" "94508322" "subst" "1.62513E-5" "01251" "ABCA4_000128" "g.94508322C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94042766C>T" "" "pathogenic (recessive)" ""
"0000937137" "0" "90" "1" "94510248" "94510248" "subst" "0.000544123" "01251" "ABCA4_000107" "g.94510248C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94044692C>G" "" "pathogenic (recessive)" ""
"0000937138" "1" "50" "1" "94544906" "94544906" "subst" "0" "01251" "ABCA4_002739" "g.94544906G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94079350G>A" "" "VUS" ""
"0000937139" "1" "90" "1" "94486895" "94486895" "subst" "3.24923E-5" "01251" "ABCA4_000484" "g.94486895C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94021339C>T" "" "pathogenic (recessive)" ""
"0000937140" "0" "50" "1" "94580645" "94580645" "subst" "0" "01251" "ABCA4_002512" "g.94580645A>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94115089A>C" "" "VUS" ""
"0000937141" "1" "90" "1" "94528806" "94528806" "subst" "0.000150298" "01251" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94063250A>G" "" "pathogenic (recessive)" ""
"0000937142" "3" "50" "1" "94577002" "94577002" "subst" "7.32398E-5" "01251" "ABCA4_000987" "g.94577002G>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94111446G>C" "" "VUS" ""
"0000937143" "0" "90" "1" "94578618" "94578618" "subst" "0.000166918" "01251" "ABCA4_000252" "g.94578618C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94113062C>T" "" "pathogenic (recessive)" ""
"0000937144" "3" "70" "1" "94520688" "94520688" "subst" "0" "01251" "ABCA4_001517" "g.94520688A>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94055132A>T" "" "likely pathogenic (recessive)" ""
"0000937145" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01251" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000937146" "0" "90" "1" "94586550" "94586550" "subst" "1.21864E-5" "01251" "ABCA4_000037" "g.94586550G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94120994G>A" "" "pathogenic (recessive)" ""
"0000937147" "0" "70" "1" "94564430" "94564430" "subst" "0" "01251" "ABCA4_000376" "g.94564430A>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94098874A>T" "" "likely pathogenic (recessive)" ""
"0000937148" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000937149" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01251" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94062710G>A" "" "pathogenic (recessive)" ""
"0000937150" "1" "90" "1" "94508316" "94510301" "del" "0" "01251" "ABCA4_000041" "g.(94506959_94508316)_(94510301_94512474)del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.(94041403_94042760)_(94044745_94046918)del" "" "pathogenic (recessive)" ""
"0000937151" "1" "90" "1" "94508316" "94510301" "del" "0" "01251" "ABCA4_000041" "g.(94506959_94508316)_(94510301_94512474)del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.(94041403_94042760)_(94044745_94046918)del" "" "pathogenic (recessive)" ""
"0000937152" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01251" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000937153" "0" "90" "1" "94546047" "94546047" "subst" "0" "01251" "ABCA4_000150" "g.94546047A>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94080491A>T" "" "pathogenic (recessive)" ""
"0000937154" "1" "90" "1" "94490567" "94490567" "subst" "5.68528E-5" "01251" "ABCA4_000026" "g.94490567G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94025011G>A" "" "pathogenic (recessive)" ""
"0000937155" "1" "90" "1" "94490567" "94490567" "subst" "5.68528E-5" "01251" "ABCA4_000026" "g.94490567G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94025011G>A" "" "pathogenic (recessive)" ""
"0000937156" "0" "70" "1" "94497334" "94497334" "subst" "0" "01251" "ABCA4_001076" "g.94497334C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94031778C>G" "" "likely pathogenic (recessive)" ""
"0000937157" "0" "70" "1" "94546265" "94546265" "subst" "2.04063E-5" "01251" "ABCA4_000355" "g.94546265G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94080709G>A" "" "likely pathogenic (recessive)" ""
"0000937158" "0" "90" "1" "94564484" "94564484" "subst" "0.000110199" "01251" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94098928G>A" "" "pathogenic (recessive)" ""
"0000937159" "3" "70" "1" "94486888" "94486888" "subst" "3.65548E-5" "01251" "ABCA4_000137" "g.94486888G>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94021332G>C" "" "likely pathogenic (recessive)" ""
"0000937160" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01251" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000937161" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01251" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000937162" "3" "90" "1" "94495071" "94495071" "subst" "6.39479E-5" "01251" "ABCA4_000997" "g.94495071C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94029515C>T" "" "pathogenic (recessive)" ""
"0000937163" "1" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01251" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000937164" "1" "90" "1" "94564484" "94564484" "subst" "0.000110199" "01251" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94098928G>A" "" "pathogenic (recessive)" ""
"0000937165" "1" "90" "1" "94471055" "94471055" "subst" "0.00035346" "01251" "ABCA4_000029" "g.94471055C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "no variant 2nd chromosome" "Germline" "yes" "" "0" "" "" "g.94005499C>T" "" "pathogenic (recessive)" ""
"0000937166" "0" "90" "1" "94546118" "94546118" "subst" "8.13326E-6" "01251" "ABCA4_000082" "g.94546118A>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94080562A>C" "" "pathogenic (recessive)" ""
"0000937167" "0" "90" "1" "94564387" "94564387" "subst" "4.06111E-6" "01251" "ABCA4_000372" "g.94564387A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94098831A>G" "" "pathogenic (recessive)" ""
"0000937168" "1" "90" "1" "94508386" "94508386" "subst" "1.62443E-5" "01251" "ABCA4_000642" "g.94508386C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94042830C>T" "" "pathogenic (recessive)" ""
"0000937169" "1" "70" "1" "94564408" "94564408" "subst" "4.06128E-6" "01251" "ABCA4_001066" "g.94564408A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94098852A>G" "" "likely pathogenic (recessive)" ""
"0000937170" "1" "90" "1" "94564432" "94564432" "subst" "0" "01251" "ABCA4_001029" "g.94564432A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94098876A>G" "" "pathogenic (recessive)" ""
"0000937171" "0" "50" "1" "94574205" "94574223" "dup" "0" "01251" "ABCA4_002753" "g.94574205_94574223dup" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94108649_94108667dup" "" "VUS" ""
"0000937172" "0" "90" "1" "94497468" "94497468" "subst" "0" "01251" "ABCA4_000582" "g.94497468G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94031912G>A" "" "pathogenic (recessive)" ""
"0000937173" "1" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01251" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic (recessive)" ""
"0000937174" "0" "90" "1" "94564484" "94564484" "subst" "0.000110199" "01251" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94098928G>A" "" "pathogenic (recessive)" ""
"0000937175" "0" "90" "1" "94480178" "94480178" "subst" "2.43692E-5" "01251" "ABCA4_000005" "g.94480178G>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94014622G>T" "" "pathogenic (recessive)" ""
"0000937176" "1" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01251" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000937177" "0" "70" "1" "94466624" "94466624" "subst" "0.0014345" "01251" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94001068C>T" "" "likely pathogenic (recessive)" ""
"0000937178" "0" "90" "1" "94485137" "94485137" "subst" "0" "01251" "ABCA4_000464" "g.94485137C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94019581C>T" "" "pathogenic (recessive)" ""
"0000937179" "3" "90" "1" "94473278" "94473278" "del" "3.25908E-5" "01251" "ABCA4_000392" "g.94473278del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94007722del" "" "pathogenic (recessive)" ""
"0000937180" "0" "90" "1" "94577010" "94577010" "subst" "1.22004E-5" "01251" "ABCA4_000224" "g.94577010T>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94111454T>C" "" "pathogenic (recessive)" ""
"0000937181" "0" "50" "1" "94496679" "94496679" "subst" "0" "01251" "ABCA4_001844" "g.94496679G>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94031123G>T" "" "VUS" ""
"0000937182" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000937183" "0" "90" "1" "94512499" "94512499" "subst" "0.000130029" "01251" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94046943T>C" "" "pathogenic (recessive)" ""
"0000937184" "0" "90" "1" "94495083" "94495083" "subst" "0.000124542" "01251" "ABCA4_000542" "g.94495083G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94029527G>A" "" "pathogenic (recessive)" ""
"0000937185" "1" "90" "1" "94480241" "94480241" "subst" "7.71705E-5" "01251" "ABCA4_000446" "g.94480241G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94014685G>A" "" "pathogenic (recessive)" ""
"0000937186" "0" "90" "1" "94526295" "94526295" "subst" "3.69731E-5" "01251" "ABCA4_000114" "g.94526295C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94060739C>T" "" "pathogenic (recessive)" ""
"0000937187" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01251" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000937188" "0" "90" "1" "94502701" "94502701" "subst" "0" "01251" "ABCA4_000594" "g.94502701C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94037145C>G" "" "pathogenic (recessive)" ""
"0000937189" "0" "90" "1" "94508997" "94508997" "subst" "0" "01251" "ABCA4_000112" "g.94508997G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94043441G>A" "" "pathogenic (recessive)" ""
"0000937190" "1" "70" "1" "94586549" "94586549" "subst" "0" "01251" "ABCA4_001028" "g.94586549C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94120993C>T" "" "likely pathogenic (recessive)" ""
"0000937191" "1" "50" "1" "94496509" "94496509" "subst" "0.00475243" "01251" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94030953C>T" "" "VUS" ""
"0000937192" "0" "50" "1" "94544141" "94544141" "subst" "0" "01251" "ABCA4_002736" "g.94544141C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94078585C>T" "" "VUS" ""
"0000937193" "0" "90" "1" "94471065" "94471065" "subst" "0.000194997" "01251" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94005509G>A" "" "pathogenic (recessive)" ""
"0000937194" "1" "70" "1" "94509018" "94509018" "subst" "8.12869E-6" "01251" "ABCA4_000659" "g.94509018C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94043462C>T" "" "likely pathogenic (recessive)" ""
"0000937195" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01251" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000937196" "1" "90" "1" "94577010" "94577010" "subst" "1.22004E-5" "01251" "ABCA4_000224" "g.94577010T>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94111454T>C" "" "pathogenic (recessive)" ""
"0000937197" "0" "50" "1" "94544219" "94544219" "subst" "0" "01251" "ABCA4_002134" "g.94544219A>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94078663A>T" "" "VUS" ""
"0000937198" "0" "70" "1" "94485247" "94485247" "subst" "4.07647E-5" "01251" "ABCA4_000475" "g.94485247C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94019691C>T" "" "likely pathogenic (recessive)" ""
"0000937199" "0" "90" "1" "94528806" "94528806" "subst" "0.000150298" "01251" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "pathogenic (recessive)" ""
"0000937200" "0" "70" "1" "94512602" "94512602" "subst" "0.000369717" "01251" "ABCA4_000052" "g.94512602C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94047046C>T" "" "likely pathogenic (recessive)" ""
"0000937201" "1" "90" "1" "94509026" "94509026" "subst" "4.06497E-5" "01251" "ABCA4_000660" "g.94509026G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94043470G>A" "" "pathogenic (recessive)" ""
"0000937202" "1" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01251" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000937203" "0" "90" "1" "94490567" "94490567" "subst" "5.68528E-5" "01251" "ABCA4_000026" "g.94490567G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94025011G>A" "" "pathogenic (recessive)" ""
"0000937204" "0" "90" "1" "94502701" "94502701" "subst" "0" "01251" "ABCA4_000594" "g.94502701C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94037145C>G" "" "pathogenic (recessive)" ""
"0000937205" "1" "50" "1" "94496509" "94496509" "subst" "0.00475243" "01251" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94030953C>T" "" "VUS" ""
"0000937206" "1" "70" "1" "94509018" "94509018" "subst" "8.12869E-6" "01251" "ABCA4_000659" "g.94509018C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94043462C>T" "" "likely pathogenic (recessive)" ""
"0000937207" "1" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01251" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000937208" "0" "70" "1" "94466624" "94466624" "subst" "0.0014345" "01251" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94001068C>T" "" "likely pathogenic (recessive)" ""
"0000937209" "1" "50" "1" "94528874" "94528874" "subst" "0" "01251" "ABCA4_002728" "g.94528874C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94063318C>T" "" "VUS" ""
"0000937210" "0" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01251" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic (recessive)" ""
"0000937211" "1" "90" "1" "94577010" "94577010" "subst" "1.22004E-5" "01251" "ABCA4_000224" "g.94577010T>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94111454T>C" "" "pathogenic (recessive)" ""
"0000937212" "1" "90" "1" "94495000" "94495000" "subst" "0" "01251" "ABCA4_000164" "g.94495000C>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94029444C>A" "" "pathogenic (recessive)" ""
"0000937213" "0" "90" "1" "94496666" "94496666" "subst" "0.000219568" "01251" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "pathogenic (recessive)" ""
"0000937214" "0" "90" "1" "94508997" "94508997" "subst" "0" "01251" "ABCA4_000112" "g.94508997G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94043441G>A" "" "pathogenic (recessive)" ""
"0000937215" "0" "50" "1" "94517226" "94517226" "subst" "0" "01251" "ABCA4_002706" "g.94517226G>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94051670G>T" "" "VUS" ""
"0000937216" "3" "90" "1" "94473278" "94473278" "del" "3.25908E-5" "01251" "ABCA4_000392" "g.94473278del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94007722del" "" "pathogenic (recessive)" ""
"0000937217" "0" "90" "1" "94564484" "94564484" "subst" "0.000110199" "01251" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94098928G>A" "" "pathogenic (recessive)" ""
"0000937218" "0" "90" "1" "94496666" "94496666" "subst" "0.000219568" "01251" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "pathogenic (recessive)" ""
"0000937219" "1" "50" "1" "94510250" "94510250" "subst" "0" "01251" "ABCA4_002694" "g.94510250C>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94044694C>A" "" "VUS" ""
"0000937220" "0" "90" "1" "94544159" "94544159" "subst" "2.03079E-5" "01251" "ABCA4_000063" "g.94544159A>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94078603A>T" "" "pathogenic (recessive)" ""
"0000937221" "0" "50" "1" "94485265" "94485265" "subst" "0" "01251" "ABCA4_002631" "g.94485265A>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94019709A>C" "" "VUS" ""
"0000937222" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000937223" "1" "70" "1" "94528226" "94528226" "subst" "0" "01251" "ABCA4_002077" "g.94528226A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94062670A>G" "" "likely pathogenic (recessive)" ""
"0000937224" "0" "90" "1" "94577010" "94577010" "subst" "1.22004E-5" "01251" "ABCA4_000224" "g.94577010T>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94111454T>C" "" "pathogenic (recessive)" ""
"0000937225" "0" "70" "1" "94486888" "94486888" "subst" "3.65548E-5" "01251" "ABCA4_000137" "g.94486888G>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94021332G>C" "" "likely pathogenic (recessive)" ""
"0000937226" "0" "90" "1" "94508435" "94508436" "dup" "0" "01251" "ABCA4_000998" "g.94508435_94508436dup" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94042879_94042880dup" "" "pathogenic (recessive)" ""
"0000937227" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01251" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000937228" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01251" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000937229" "0" "90" "1" "94512517" "94512517" "subst" "0" "01251" "ABCA4_000686" "g.94512517G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94046961G>A" "" "pathogenic (recessive)" ""
"0000937230" "0" "90" "1" "94485196" "94485197" "delins" "0" "01251" "ABCA4_001727" "g.94485196_94485197delinsCT" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94019640_94019641delinsCT" "" "pathogenic (recessive)" ""
"0000937231" "0" "50" "1" "94508465" "94508465" "subst" "0" "01251" "ABCA4_001943" "g.94508465A>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94042909A>T" "" "VUS" ""
"0000937232" "0" "30" "1" "94564451" "94564451" "subst" "0.000150413" "01251" "ABCA4_000378" "g.94564451T>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94098895T>G" "" "likely benign" ""
"0000937233" "1" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01251" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000937234" "0" "50" "1" "94577108" "94577108" "subst" "0" "01251" "ABCA4_002756" "g.94577108G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94111552G>A" "" "VUS" ""
"0000937235" "1" "90" "1" "94528780" "94528780" "subst" "0" "01251" "ABCA4_002097" "g.94528780C>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94063224C>A" "" "pathogenic (recessive)" ""
"0000937236" "0" "50" "1" "94473271" "94473271" "subst" "0" "01251" "ABCA4_002300" "g.94473271C>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94007715C>A" "" "VUS" ""
"0000937237" "1" "90" "1" "94508435" "94508436" "dup" "0" "01251" "ABCA4_000998" "g.94508435_94508436dup" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94042879_94042880dup" "" "pathogenic (recessive)" ""
"0000937238" "0" "90" "1" "94510248" "94510248" "subst" "0.000544123" "01251" "ABCA4_000107" "g.94510248C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94044692C>G" "" "pathogenic (recessive)" ""
"0000937239" "0" "50" "1" "94496509" "94496509" "subst" "0.00475243" "01251" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94030953C>T" "" "VUS" ""
"0000937240" "0" "90" "1" "94510248" "94510248" "subst" "0.000544123" "01251" "ABCA4_000107" "g.94510248C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94044692C>G" "" "pathogenic (recessive)" ""
"0000937241" "0" "90" "1" "94526296" "94526296" "subst" "1.64555E-5" "01251" "ABCA4_000768" "g.94526296G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94060740G>A" "" "pathogenic (recessive)" ""
"0000937242" "1" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01251" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000937243" "3" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01251" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000937244" "0" "90" "1" "94495009" "94495009" "dup" "0" "01251" "ABCA4_000087" "g.94495009dup" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94029453dup" "" "pathogenic (recessive)" ""
"0000937245" "0" "90" "1" "94578596" "94578596" "subst" "4.06478E-6" "01251" "ABCA4_000250" "g.94578596C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94113040C>T" "" "pathogenic (recessive)" ""
"0000937246" "0" "50" "1" "94526092" "94526092" "subst" "0" "01251" "ABCA4_000749" "g.94526092C>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94060536C>A" "" "VUS" ""
"0000937247" "0" "70" "1" "94544249" "94544249" "subst" "8.12196E-6" "01251" "ABCA4_000323" "g.94544249A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94078693A>G" "" "likely pathogenic (recessive)" ""
"0000937248" "1" "90" "1" "94486895" "94486895" "subst" "3.24923E-5" "01251" "ABCA4_000484" "g.94486895C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94021339C>T" "" "pathogenic (recessive)" ""
"0000937249" "3" "90" "1" "94528251" "94528251" "subst" "2.84824E-5" "01251" "ABCA4_000281" "g.94528251C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94062695C>T" "" "pathogenic (recessive)" ""
"0000937250" "1" "90" "1" "94508353" "94508353" "subst" "2.8431E-5" "01251" "ABCA4_000141" "g.94508353G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94042797G>A" "" "pathogenic (recessive)" ""
"0000937251" "0" "50" "1" "94544219" "94544219" "subst" "0" "01251" "ABCA4_002134" "g.94544219A>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94078663A>T" "" "VUS" ""
"0000937252" "3" "70" "1" "94528679" "94528679" "subst" "2.84368E-5" "01251" "ABCA4_000292" "g.94528679C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94063123C>G" "" "likely pathogenic (recessive)" ""
"0000937253" "1" "90" "1" "94564484" "94564484" "subst" "0.000110199" "01251" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94098928G>A" "" "pathogenic (recessive)" ""
"0000937254" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01251" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000937255" "0" "90" "1" "94546033" "94546033" "subst" "0" "01251" "ABCA4_000335" "g.94546033C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94080477C>T" "" "pathogenic (recessive)" ""
"0000937256" "1" "50" "1" "94544219" "94544219" "subst" "0" "01251" "ABCA4_002134" "g.94544219A>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94078663A>T" "" "VUS" ""
"0000937257" "3" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01251" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000937258" "3" "90" "1" "94471056" "94471056" "subst" "2.84398E-5" "01251" "ABCA4_000050" "g.94471056G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94005500G>A" "" "pathogenic (recessive)" ""
"0000937259" "3" "90" "1" "94473278" "94473278" "del" "3.25908E-5" "01251" "ABCA4_000392" "g.94473278del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94007722del" "" "pathogenic (recessive)" ""
"0000937260" "0" "50" "1" "94528148" "94528148" "subst" "0" "01251" "ABCA4_002721" "g.94528148C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94062592C>T" "" "VUS" ""
"0000937261" "0" "90" "1" "94577010" "94577010" "subst" "1.22004E-5" "01251" "ABCA4_000224" "g.94577010T>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94111454T>C" "" "pathogenic (recessive)" ""
"0000937262" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01251" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000937263" "1" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01251" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000937264" "0" "70" "1" "94528218" "94528218" "subst" "0" "01251" "ABCA4_000273" "g.94528218C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94062662C>T" "" "likely pathogenic (recessive)" ""
"0000937265" "0" "90" "1" "94473266" "94473266" "subst" "8.14677E-6" "01251" "ABCA4_000389" "g.94473266C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94007710C>T" "" "pathogenic (recessive)" ""
"0000937266" "0" "90" "1" "94508997" "94508997" "subst" "0" "01251" "ABCA4_000112" "g.94508997G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94043441G>A" "" "pathogenic (recessive)" ""
"0000937267" "1" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000937268" "0" "50" "1" "94548912" "94548912" "subst" "8.13829E-6" "01251" "ABCA4_002744" "g.94548912T>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94083356T>G" "" "VUS" ""
"0000937269" "1" "90" "1" "94493000" "94493000" "subst" "0" "01251" "ABCA4_000015" "g.94493000C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94027444C>T" "" "pathogenic (recessive)" ""
"0000937270" "1" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01251" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000937271" "1" "90" "1" "94497393" "94497393" "subst" "2.04188E-5" "01251" "ABCA4_000578" "g.94497393C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94031837C>T" "" "pathogenic (recessive)" ""
"0000937272" "1" "50" "1" "94578601" "94578601" "subst" "4.0657E-5" "01251" "ABCA4_002757" "g.94578601C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94113045C>T" "" "VUS" ""
"0000937273" "3" "90" "1" "94473278" "94473278" "del" "3.25908E-5" "01251" "ABCA4_000392" "g.94473278del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94007722del" "" "pathogenic (recessive)" ""
"0000937274" "1" "50" "1" "94485157" "94485157" "subst" "0" "01251" "ABCA4_000466" "g.94485157G>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94019601G>T" "" "VUS" ""
"0000937275" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01251" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000937276" "0" "90" "1" "94577093" "94577093" "subst" "0" "01251" "ABCA4_000178" "g.94577093G>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94111537G>C" "" "pathogenic (recessive)" ""
"0000937277" "0" "90" "1" "94526296" "94526296" "subst" "1.64555E-5" "01251" "ABCA4_000768" "g.94526296G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94060740G>A" "" "pathogenic (recessive)" ""
"0000937278" "0" "90" "1" "94520791" "94520791" "subst" "0" "01251" "ABCA4_000191" "g.94520791C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94055235C>T" "" "pathogenic (recessive)" ""
"0000937279" "0" "90" "1" "94497392" "94497392" "subst" "0" "01251" "ABCA4_000577" "g.94497392G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94031836G>A" "" "pathogenic (recessive)" ""
"0000937280" "3" "50" "1" "94485248" "94485249" "ins" "0" "01251" "ABCA4_002630" "g.94485248_94485249insA" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94019692_94019693insA" "" "VUS" ""
"0000937281" "1" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01251" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000937282" "0" "90" "1" "94502832" "94502832" "subst" "0" "01251" "ABCA4_001879" "g.94502832C>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94037276C>A" "" "pathogenic (recessive)" ""
"0000937283" "0" "50" "1" "94496509" "94496509" "subst" "0.00475243" "01251" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94030953C>T" "" "VUS" ""
"0000937284" "0" "70" "1" "94508350" "94508350" "subst" "0" "01251" "ABCA4_000633" "g.94508350A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94042794A>G" "" "likely pathogenic (recessive)" ""
"0000937285" "1" "70" "1" "94508350" "94508350" "subst" "0" "01251" "ABCA4_000633" "g.94508350A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94042794A>G" "" "likely pathogenic (recessive)" ""
"0000937286" "1" "90" "1" "94526296" "94526296" "subst" "1.64555E-5" "01251" "ABCA4_000768" "g.94526296G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94060740G>A" "" "pathogenic (recessive)" ""
"0000937287" "0" "70" "1" "94574147" "94574147" "subst" "8.12236E-6" "01251" "ABCA4_000213" "g.94574147G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94108591G>A" "" "likely pathogenic (recessive)" ""
"0000937288" "0" "90" "1" "94544185" "94544185" "subst" "8.12137E-6" "01251" "ABCA4_000177" "g.94544185C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94078629C>T" "" "pathogenic (recessive)" ""
"0000937289" "1" "50" "1" "94512550" "94512550" "subst" "0" "01251" "ABCA4_002700" "g.94512550C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94046994C>G" "" "VUS" ""
"0000937290" "3" "70" "1" "94476875" "94476875" "subst" "1.62489E-5" "01251" "ABCA4_001280" "g.94476875G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94011319G>A" "" "likely pathogenic (recessive)" ""
"0000937291" "1" "90" "1" "94528806" "94528806" "subst" "0.000150298" "01251" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94063250A>G" "" "pathogenic (recessive)" ""
"0000937292" "0" "90" "1" "94546185" "94546185" "del" "0" "01251" "ABCA4_000350" "g.94546185del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94080629del" "" "pathogenic (recessive)" ""
"0000937293" "1" "90" "1" "94486895" "94486895" "subst" "3.24923E-5" "01251" "ABCA4_000484" "g.94486895C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94021339C>T" "" "pathogenic (recessive)" ""
"0000937294" "0" "50" "1" "94476449" "94476449" "subst" "0" "01251" "ABCA4_001030" "g.94476449A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94010893A>G" "" "VUS" ""
"0000937295" "0" "50" "1" "94485163" "94485163" "subst" "0" "01251" "ABCA4_002629" "g.94485163C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94019607C>T" "" "VUS" ""
"0000937296" "3" "90" "1" "94473266" "94473266" "subst" "8.14677E-6" "01251" "ABCA4_000389" "g.94473266C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94007710C>T" "" "pathogenic (recessive)" ""
"0000937297" "3" "90" "1" "94473278" "94473278" "del" "3.25908E-5" "01251" "ABCA4_000392" "g.94473278del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94007722del" "" "pathogenic (recessive)" ""
"0000937298" "0" "90" "1" "94577102" "94577102" "subst" "4.06161E-6" "01251" "ABCA4_000033" "g.94577102C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94111546C>T" "" "pathogenic (recessive)" ""
"0000937299" "0" "90" "1" "94508997" "94508997" "subst" "0" "01251" "ABCA4_000112" "g.94508997G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94043441G>A" "" "pathogenic (recessive)" ""
"0000937300" "0" "90" "1" "94526154" "94526154" "subst" "4.06441E-6" "01251" "ABCA4_000752" "g.94526154C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94060598C>T" "" "pathogenic (recessive)" ""
"0000937301" "3" "50" "1" "94543290" "94543290" "subst" "0" "01251" "ABCA4_002731" "g.94543290T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94077734T>A" "" "VUS" ""
"0000937302" "3" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01251" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000937303" "3" "90" "1" "94473278" "94473278" "del" "3.25908E-5" "01251" "ABCA4_000392" "g.94473278del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94007722del" "" "pathogenic (recessive)" ""
"0000937304" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01251" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94062710G>A" "" "pathogenic (recessive)" ""
"0000937305" "0" "50" "1" "94496509" "94496509" "subst" "0.00475243" "01251" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94030953C>T" "" "VUS" ""
"0000937306" "1" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01251" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic (recessive)" ""
"0000937307" "0" "90" "1" "94578618" "94578618" "subst" "0.000166918" "01251" "ABCA4_000252" "g.94578618C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94113062C>T" "" "pathogenic (recessive)" ""
"0000937308" "0" "50" "1" "94568667" "94568667" "subst" "0" "01251" "ABCA4_002751" "g.94568667T>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94103111T>G" "" "VUS" ""
"0000937309" "1" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01251" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000937310" "0" "90" "1" "94496547" "94496547" "subst" "1.21904E-5" "01251" "ABCA4_000559" "g.94496547C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94030991C>T" "" "pathogenic (recessive)" ""
"0000937311" "1" "90" "1" "94526230" "94526230" "subst" "7.32136E-5" "01251" "ABCA4_000760" "g.94526230C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94060674C>T" "" "pathogenic (recessive)" ""
"0000937312" "1" "90" "1" "94486895" "94486895" "subst" "3.24923E-5" "01251" "ABCA4_000484" "g.94486895C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94021339C>T" "" "pathogenic (recessive)" ""
"0000937313" "1" "90" "1" "94473266" "94473266" "subst" "8.14677E-6" "01251" "ABCA4_000389" "g.94473266C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94007710C>T" "" "pathogenic (recessive)" ""
"0000937314" "3" "90" "1" "94473278" "94473278" "del" "3.25908E-5" "01251" "ABCA4_000392" "g.94473278del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94007722del" "" "pathogenic (recessive)" ""
"0000937315" "3" "90" "1" "94473278" "94473278" "del" "3.25908E-5" "01251" "ABCA4_000392" "g.94473278del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94007722del" "" "pathogenic (recessive)" ""
"0000937316" "1" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01251" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000937317" "0" "50" "1" "94564447" "94564447" "subst" "5.69013E-5" "01251" "ABCA4_000985" "g.94564447G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94098891G>A" "" "VUS" ""
"0000937318" "0" "50" "1" "94574240" "94574240" "subst" "0" "01251" "ABCA4_002754" "g.94574240A>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94108684A>C" "" "VUS" ""
"0000937319" "1" "70" "1" "94506910" "94506910" "subst" "4.06098E-6" "01251" "ABCA4_000105" "g.94506910A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94041354A>G" "" "likely pathogenic (recessive)" ""
"0000937320" "0" "50" "1" "94544214" "94544214" "subst" "0" "01251" "ABCA4_002738" "g.94544214C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94078658C>G" "" "VUS" ""
"0000937321" "1" "70" "1" "94512529" "94512529" "subst" "0" "01251" "ABCA4_000690" "g.94512529T>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94046973T>C" "" "likely pathogenic (recessive)" ""
"0000937322" "3" "90" "1" "94496666" "94496666" "subst" "0.000219568" "01251" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "pathogenic (recessive)" ""
"0000937323" "1" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01251" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000937324" "0" "90" "1" "94564383" "94564383" "subst" "0" "01251" "ABCA4_000371" "g.94564383A>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94098827A>C" "" "pathogenic (recessive)" ""
"0000937325" "0" "70" "1" "94508350" "94508350" "subst" "0" "01251" "ABCA4_000633" "g.94508350A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94042794A>G" "" "likely pathogenic (recessive)" ""
"0000937326" "0" "90" "1" "94528806" "94528806" "subst" "0.000150298" "01251" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "pathogenic (recessive)" ""
"0000937327" "1" "90" "1" "94512499" "94512499" "subst" "0.000130029" "01251" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94046943T>C" "" "pathogenic (recessive)" ""
"0000937328" "0" "50" "1" "94528836" "94528836" "subst" "6.50068E-5" "01251" "ABCA4_000079" "g.94528836T>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94063280T>C" "" "VUS" ""
"0000937329" "1" "50" "1" "94568675" "94568675" "subst" "0.00146249" "01251" "ABCA4_000210" "g.94568675T>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94103119T>C" "" "VUS" ""
"0000937330" "1" "90" "1" "94577102" "94577102" "subst" "4.06161E-6" "01251" "ABCA4_000033" "g.94577102C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94111546C>T" "" "pathogenic (recessive)" ""
"0000937331" "0" "50" "1" "94495055" "94495059" "delins" "0" "01251" "ABCA4_002661" "g.94495055_94495059delinsTGC" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94029499_94029503delinsTGC" "" "VUS" ""
"0000937332" "0" "90" "1" "94496008" "94496008" "subst" "2.03056E-5" "01251" "ABCA4_000148" "g.94496008C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94030452C>T" "" "pathogenic (recessive)" ""
"0000937333" "1" "50" "1" "94485157" "94485157" "subst" "0" "01251" "ABCA4_000466" "g.94485157G>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94019601G>T" "" "VUS" ""
"0000937334" "0" "90" "1" "94508435" "94508436" "dup" "0" "01251" "ABCA4_000998" "g.94508435_94508436dup" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94042879_94042880dup" "" "pathogenic (recessive)" ""
"0000937335" "3" "90" "1" "94473278" "94473278" "del" "3.25908E-5" "01251" "ABCA4_000392" "g.94473278del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94007722del" "" "pathogenic (recessive)" ""
"0000937336" "3" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01251" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000937337" "1" "90" "1" "94510248" "94510248" "subst" "0.000544123" "01251" "ABCA4_000107" "g.94510248C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94044692C>G" "" "pathogenic (recessive)" ""
"0000937338" "1" "90" "1" "94484001" "94484001" "subst" "0" "01251" "ABCA4_000016" "g.94484001C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94018445C>T" "" "pathogenic (recessive)" ""
"0000937339" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01251" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000937340" "3" "90" "1" "94577010" "94577010" "subst" "1.22004E-5" "01251" "ABCA4_000224" "g.94577010T>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94111454T>C" "" "pathogenic (recessive)" ""
"0000937341" "0" "90" "1" "94509026" "94509026" "subst" "4.06497E-5" "01251" "ABCA4_000660" "g.94509026G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94043470G>A" "" "pathogenic (recessive)" ""
"0000937342" "0" "90" "1" "94508322" "94508322" "subst" "1.62513E-5" "01251" "ABCA4_000128" "g.94508322C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94042766C>T" "" "pathogenic (recessive)" ""
"0000937343" "1" "90" "1" "94564383" "94564383" "subst" "0" "01251" "ABCA4_000371" "g.94564383A>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94098827A>C" "" "pathogenic (recessive)" ""
"0000937344" "1" "90" "1" "94546248" "94546248" "del" "2.03666E-5" "01251" "ABCA4_000352" "g.94546248del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94080692del" "" "pathogenic (recessive)" ""
"0000937345" "0" "90" "1" "94487468" "94487468" "del" "0" "01251" "ABCA4_000169" "g.94487468del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94021912del" "" "pathogenic (recessive)" ""
"0000937346" "0" "90" "1" "94508353" "94508353" "subst" "2.8431E-5" "01251" "ABCA4_000141" "g.94508353G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94042797G>A" "" "pathogenic (recessive)" ""
"0000937347" "1" "90" "1" "94512619" "94512619" "subst" "0" "01251" "ABCA4_001305" "g.94512619C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94047063C>T" "" "pathogenic (recessive)" ""
"0000937348" "0" "90" "1" "94476351" "94476351" "subst" "0.000296608" "01251" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "pathogenic (recessive)" ""
"0000937349" "1" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01251" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000937350" "0" "90" "1" "94487455" "94487455" "subst" "4.06128E-6" "01251" "ABCA4_000504" "g.94487455C>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94021899C>A" "" "pathogenic (recessive)" ""
"0000937351" "0" "90" "1" "94564432" "94564432" "subst" "0" "01251" "ABCA4_001029" "g.94564432A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94098876A>G" "" "pathogenic (recessive)" ""
"0000937352" "0" "90" "1" "94473298" "94473298" "del" "0" "01251" "ABCA4_000396" "g.94473298del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94007742del" "" "pathogenic (recessive)" ""
"0000937353" "3" "50" "1" "94526246" "94526246" "subst" "0" "01251" "ABCA4_002718" "g.94526246C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94060690C>G" "" "VUS" ""
"0000937354" "0" "70" "1" "94496627" "94496627" "del" "0" "01251" "ABCA4_002333" "g.94496627del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94031071del" "" "likely pathogenic (recessive)" ""
"0000937355" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01251" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000937356" "0" "90" "1" "94528265" "94528265" "subst" "2.44212E-5" "01251" "ABCA4_000284" "g.94528265C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94062709C>T" "" "pathogenic (recessive)" ""
"0000937357" "0" "50" "1" "94578601" "94578601" "subst" "4.0657E-5" "01251" "ABCA4_002757" "g.94578601C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94113045C>T" "" "VUS" ""
"0000937358" "0" "70" "1" "94514424" "94514424" "subst" "4.06105E-6" "01251" "ABCA4_000972" "g.94514424C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94048868C>T" "" "likely pathogenic (recessive)" ""
"0000937359" "0" "90" "1" "94528806" "94528806" "subst" "0.000150298" "01251" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "pathogenic (recessive)" ""
"0000937360" "0" "90" "1" "94510253" "94510253" "subst" "0.000247694" "01251" "ABCA4_000108" "g.94510253A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94044697A>G" "" "pathogenic (recessive)" ""
"0000937361" "0" "90" "1" "94488941" "94488941" "subst" "4.09836E-6" "01251" "ABCA4_000127" "g.94488941C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94023385C>T" "" "pathogenic (recessive)" ""
"0000937362" "1" "90" "1" "94528714" "94528714" "subst" "0" "01251" "ABCA4_000296" "g.94528714G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94063158G>A" "" "pathogenic (recessive)" ""
"0000937363" "0" "90" "1" "94526212" "94526212" "subst" "1.22012E-5" "01251" "ABCA4_000075" "g.94526212G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94060656G>A" "" "pathogenic (recessive)" ""
"0000937364" "1" "90" "1" "94476351" "94476351" "subst" "0.000296608" "01251" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94010795C>T" "" "pathogenic (recessive)" ""
"0000937365" "0" "90" "1" "94496008" "94496008" "subst" "2.03056E-5" "01251" "ABCA4_000148" "g.94496008C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94030452C>T" "" "pathogenic (recessive)" ""
"0000937366" "1" "90" "1" "94508322" "94508322" "subst" "1.62513E-5" "01251" "ABCA4_000128" "g.94508322C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94042766C>T" "" "pathogenic (recessive)" ""
"0000937367" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01251" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000937368" "1" "90" "1" "94577010" "94577010" "subst" "1.22004E-5" "01251" "ABCA4_000224" "g.94577010T>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94111454T>C" "" "pathogenic (recessive)" ""
"0000937369" "1" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01251" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000937370" "1" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01251" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000937371" "0" "70" "1" "94546114" "94546114" "subst" "0" "01251" "ABCA4_000983" "g.94546114T>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94080558T>C" "" "likely pathogenic (recessive)" ""
"0000937372" "1" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01251" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000937373" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01251" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94062710G>A" "" "pathogenic (recessive)" ""
"0000937374" "1" "70" "1" "94546265" "94546265" "subst" "2.04063E-5" "01251" "ABCA4_000355" "g.94546265G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94080709G>A" "" "likely pathogenic (recessive)" ""
"0000937375" "1" "70" "1" "94546265" "94546265" "subst" "2.04063E-5" "01251" "ABCA4_000355" "g.94546265G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94080709G>A" "" "likely pathogenic (recessive)" ""
"0000937376" "0" "90" "1" "94496666" "94496666" "subst" "0.000219568" "01251" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "pathogenic (recessive)" ""
"0000937377" "0" "90" "1" "94577102" "94577102" "subst" "4.06161E-6" "01251" "ABCA4_000033" "g.94577102C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94111546C>T" "" "pathogenic (recessive)" ""
"0000937378" "0" "50" "1" "94476879" "94476888" "dup" "0" "01251" "ABCA4_002624" "g.94476879_94476888dup" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94011323_94011332dup" "" "VUS" ""
"0000937379" "1" "50" "1" "94502808" "94502808" "subst" "0" "01251" "ABCA4_002673" "g.94502808T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94037252T>A" "" "VUS" ""
"0000937380" "1" "90" "1" "94496547" "94496547" "subst" "1.21904E-5" "01251" "ABCA4_000559" "g.94496547C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94030991C>T" "" "pathogenic (recessive)" ""
"0000937381" "1" "90" "1" "94528806" "94528806" "subst" "0.000150298" "01251" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94063250A>G" "" "pathogenic (recessive)" ""
"0000937382" "1" "70" "1" "94528217" "94528217" "subst" "0" "01251" "ABCA4_000272" "g.94528217C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94062661C>T" "" "likely pathogenic (recessive)" ""
"0000937383" "0" "50" "1" "94568689" "94568689" "subst" "0" "01251" "ABCA4_001023" "g.94568689A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94103133A>G" "" "VUS" ""
"0000937384" "1" "50" "1" "94564426" "94564426" "subst" "0" "01251" "ABCA4_002748" "g.94564426G>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94098870G>C" "" "VUS" ""
"0000937385" "0" "90" "1" "94577117" "94577117" "subst" "1.62472E-5" "01251" "ABCA4_000237" "g.94577117G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94111561G>A" "" "pathogenic (recessive)" ""
"0000937386" "0" "70" "1" "94586601" "94586601" "subst" "8.12156E-6" "01251" "ABCA4_000264" "g.94586601T>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94121045T>C" "" "likely pathogenic (recessive)" ""
"0000937387" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01251" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000937388" "3" "90" "1" "94463488" "94463488" "subst" "5.2803E-5" "01251" "ABCA4_000802" "g.94463488G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.93997932G>A" "" "pathogenic (recessive)" ""
"0000937389" "1" "90" "1" "94526316" "94526316" "subst" "4.25152E-6" "01251" "ABCA4_000118" "g.94526316C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94060760C>T" "" "pathogenic (recessive)" ""
"0000937390" "0" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01251" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic (recessive)" ""
"0000937391" "0" "90" "1" "94526296" "94526296" "subst" "1.64555E-5" "01251" "ABCA4_000768" "g.94526296G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94060740G>A" "" "pathogenic (recessive)" ""
"0000937392" "0" "90" "1" "94577082" "94577082" "subst" "2.84315E-5" "01251" "ABCA4_000232" "g.94577082C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94111526C>T" "" "pathogenic (recessive)" ""
"0000937393" "1" "90" "1" "94564484" "94564484" "subst" "0.000110199" "01251" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94098928G>A" "" "pathogenic (recessive)" ""
"0000937394" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01251" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000937395" "0" "90" "1" "94510272" "94510272" "subst" "4.06062E-6" "01251" "ABCA4_000070" "g.94510272T>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94044716T>C" "" "pathogenic (recessive)" ""
"0000937396" "1" "90" "1" "94508435" "94508436" "dup" "0" "01251" "ABCA4_000998" "g.94508435_94508436dup" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94042879_94042880dup" "" "pathogenic (recessive)" ""
"0000937397" "0" "50" "1" "94528812" "94528812" "subst" "0" "01251" "ABCA4_002727" "g.94528812A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94063256A>G" "" "VUS" ""
"0000937398" "0" "90" "1" "94528251" "94528251" "subst" "2.84824E-5" "01251" "ABCA4_000281" "g.94528251C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94062695C>T" "" "pathogenic (recessive)" ""
"0000937399" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000937400" "0" "50" "1" "94502769" "94502769" "subst" "0" "01251" "ABCA4_002671" "g.94502769C>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94037213C>A" "" "VUS" ""
"0000937401" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01251" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000937402" "0" "50" "1" "94496509" "94496509" "subst" "0.00475243" "01251" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94030953C>T" "" "VUS" ""
"0000937403" "0" "70" "1" "94485148" "94485148" "subst" "4.27562E-6" "01251" "ABCA4_000099" "g.94485148A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94019592A>G" "" "likely pathogenic (recessive)" ""
"0000937404" "0" "90" "1" "94546118" "94546118" "subst" "8.13326E-6" "01251" "ABCA4_000082" "g.94546118A>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94080562A>C" "" "pathogenic (recessive)" ""
"0000937405" "0" "90" "1" "94564484" "94564484" "subst" "0.000110199" "01251" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94098928G>A" "" "pathogenic (recessive)" ""
"0000937406" "0" "90" "1" "94528806" "94528806" "subst" "0.000150298" "01251" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "pathogenic (recessive)" ""
"0000937407" "1" "50" "1" "94528770" "94528781" "del" "0" "01251" "ABCA4_002095" "g.94528770_94528781del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94063214_94063225del" "" "VUS" ""
"0000937408" "0" "90" "1" "94528132" "94528132" "subst" "4.06835E-6" "01251" "ABCA4_000773" "g.94528132C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94062576C>T" "" "pathogenic (recessive)" ""
"0000937409" "1" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01251" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000937410" "0" "90" "1" "94546118" "94546118" "subst" "8.13326E-6" "01251" "ABCA4_000082" "g.94546118A>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94080562A>C" "" "pathogenic (recessive)" ""
"0000937411" "0" "90" "1" "94497393" "94497393" "subst" "2.04188E-5" "01251" "ABCA4_000578" "g.94497393C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94031837C>T" "" "pathogenic (recessive)" ""
"0000937412" "0" "90" "1" "94495177" "94495177" "subst" "1.22342E-5" "01251" "ABCA4_000023" "g.94495177A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94029621A>G" "" "pathogenic (recessive)" ""
"0000937413" "1" "90" "1" "94495983" "94495983" "subst" "8.12348E-6" "01251" "ABCA4_000547" "g.94495983C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94030427C>T" "" "pathogenic (recessive)" ""
"0000937414" "1" "50" "1" "94511033" "94511034" "del" "0" "01251" "ABCA4_002695" "g.94511033_94511034del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94045477_94045478del" "" "VUS" ""
"0000937415" "0" "90" "1" "94577010" "94577010" "subst" "4.06679E-6" "01251" "ABCA4_000225" "g.94577010T>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94111454T>G" "" "pathogenic (recessive)" ""
"0000937416" "0" "90" "1" "94568636" "94568636" "subst" "0" "01251" "ABCA4_001365" "g.94568636T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94103080T>A" "" "pathogenic (recessive)" ""
"0000937417" "1" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01251" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000937418" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01251" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000937419" "0" "70" "1" "94467476" "94467476" "subst" "0" "01251" "ABCA4_000781" "g.94467476C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94001920C>T" "" "likely pathogenic (recessive)" ""
"0000937420" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01251" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000937421" "0" "90" "1" "94512499" "94512499" "subst" "0.000130029" "01251" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94046943T>C" "" "pathogenic (recessive)" ""
"0000937422" "0" "90" "1" "94564484" "94564484" "subst" "0.000110199" "01251" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94098928G>A" "" "pathogenic (recessive)" ""
"0000937423" "3" "90" "1" "94473278" "94473278" "del" "3.25908E-5" "01251" "ABCA4_000392" "g.94473278del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94007722del" "" "pathogenic (recessive)" ""
"0000937424" "1" "70" "1" "94520688" "94520688" "subst" "0" "01251" "ABCA4_001517" "g.94520688A>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94055132A>T" "" "likely pathogenic (recessive)" ""
"0000937425" "1" "50" "1" "94578601" "94578601" "subst" "4.0657E-5" "01251" "ABCA4_002757" "g.94578601C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94113045C>T" "" "VUS" ""
"0000937426" "3" "90" "1" "94473278" "94473278" "del" "3.25908E-5" "01251" "ABCA4_000392" "g.94473278del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94007722del" "" "pathogenic (recessive)" ""
"0000937427" "1" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01251" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000937428" "0" "90" "1" "94526230" "94526230" "subst" "7.32136E-5" "01251" "ABCA4_000760" "g.94526230C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94060674C>T" "" "pathogenic (recessive)" ""
"0000937429" "1" "90" "1" "94546047" "94546047" "subst" "0" "01251" "ABCA4_000150" "g.94546047A>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94080491A>T" "" "pathogenic (recessive)" ""
"0000937430" "1" "90" "1" "94568564" "94568571" "del" "0" "01251" "ABCA4_002197" "g.94568564_94568571del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94103008_94103015del" "" "pathogenic (recessive)" ""
"0000937431" "0" "90" "1" "94496666" "94496666" "subst" "0.000219568" "01251" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "pathogenic (recessive)" ""
"0000937432" "3" "90" "1" "94497360" "94497360" "subst" "4.0949E-6" "01251" "ABCA4_000575" "g.94497360G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94031804G>A" "" "pathogenic (recessive)" ""
"0000937433" "1" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01251" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000937434" "3" "90" "1" "94546118" "94546118" "subst" "8.13326E-6" "01251" "ABCA4_000082" "g.94546118A>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94080562A>C" "" "pathogenic (recessive)" ""
"0000937435" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01251" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000937436" "0" "90" "1" "94544895" "94544895" "subst" "1.62455E-5" "01251" "ABCA4_000329" "g.94544895G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94079339G>A" "" "pathogenic (recessive)" ""
"0000937437" "0" "50" "1" "94528806" "94528806" "subst" "0.000150298" "01251" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "VUS" ""
"0000937438" "0" "50" "1" "94496577" "94496577" "subst" "0" "01251" "ABCA4_002665" "g.94496577A>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94031021A>T" "" "VUS" ""
"0000937439" "0" "50" "1" "94520735" "94520735" "subst" "0" "01251" "ABCA4_000718" "g.94520735A>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94055179A>C" "" "VUS" ""
"0000937440" "0" "90" "1" "94528806" "94528806" "subst" "0.000150298" "01251" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "pathogenic (recessive)" ""
"0000937441" "1" "90" "1" "94546047" "94546047" "subst" "0" "01251" "ABCA4_000150" "g.94546047A>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94080491A>T" "" "pathogenic (recessive)" ""
"0000937442" "0" "90" "1" "94564383" "94564383" "subst" "0" "01251" "ABCA4_000371" "g.94564383A>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94098827A>C" "" "pathogenic (recessive)" ""
"0000937443" "0" "90" "1" "94497495" "94497495" "del" "0" "01251" "ABCA4_000584" "g.94497495del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94031939del" "" "pathogenic (recessive)" ""
"0000937444" "1" "70" "1" "94586601" "94586601" "subst" "8.12156E-6" "01251" "ABCA4_000264" "g.94586601T>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94121045T>C" "" "likely pathogenic (recessive)" ""
"0000937445" "0" "70" "1" "94490534" "94490534" "subst" "0.000125895" "01251" "ABCA4_000520" "g.94490534G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94024978G>A" "" "likely pathogenic (recessive)" ""
"0000937446" "0" "90" "1" "94510253" "94510253" "subst" "0.000247694" "01251" "ABCA4_000108" "g.94510253A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94044697A>G" "" "pathogenic (recessive)" ""
"0000937447" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01251" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000937448" "0" "50" "1" "94548907" "94548907" "subst" "0" "01251" "ABCA4_002743" "g.94548907C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94083351C>G" "" "VUS" ""
"0000937449" "0" "90" "1" "94577117" "94577117" "subst" "1.62472E-5" "01251" "ABCA4_000237" "g.94577117G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94111561G>A" "" "pathogenic (recessive)" ""
"0000937450" "3" "50" "1" "94463634" "94463634" "subst" "0" "01251" "ABCA4_002600" "g.94463634A>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.93998078A>C" "" "VUS" ""
"0000937451" "0" "50" "1" "94548907" "94548998" "del" "0" "01251" "ABCA4_002593" "g.(94546275_94548907)_(94548998_94564349)del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.(94080719_94083351)_(94083442_94098793)del" "" "VUS" ""
"0000937452" "1" "90" "1" "94495071" "94495071" "subst" "6.39479E-5" "01251" "ABCA4_000997" "g.94495071C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94029515C>T" "" "pathogenic (recessive)" ""
"0000937453" "1" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01251" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000937454" "1" "50" "1" "94586535" "94586602" "del" "0" "01251" "ABCA4_002758" "g.(94578623_94586535)_(94586602_?)del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.(94113067_94120979)_(94121046_?)del" "" "VUS" ""
"0000937455" "3" "90" "1" "94512499" "94512499" "subst" "0.000130029" "01251" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94046943T>C" "" "pathogenic (recessive)" ""
"0000937456" "1" "90" "1" "94509026" "94509026" "subst" "4.06497E-5" "01251" "ABCA4_000660" "g.94509026G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94043470G>A" "" "pathogenic (recessive)" ""
"0000937457" "1" "90" "1" "94476351" "94476351" "subst" "0.000296608" "01251" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94010795C>T" "" "pathogenic (recessive)" ""
"0000937458" "1" "50" "1" "94543305" "94543305" "subst" "0" "01251" "ABCA4_002732" "g.94543305A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "De novo" "" "" "0" "" "" "g.94077749A>G" "" "VUS" ""
"0000937459" "0" "90" "1" "94495177" "94495177" "subst" "1.22342E-5" "01251" "ABCA4_000023" "g.94495177A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94029621A>G" "" "pathogenic (recessive)" ""
"0000937460" "0" "90" "1" "94578618" "94578618" "subst" "0.000166918" "01251" "ABCA4_000252" "g.94578618C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94113062C>T" "" "pathogenic (recessive)" ""
"0000937461" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000937462" "3" "70" "1" "94546099" "94546099" "subst" "0" "01251" "ABCA4_001389" "g.94546099T>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94080543T>C" "" "likely pathogenic (recessive)" ""
"0000937463" "0" "90" "1" "94486895" "94486895" "subst" "3.24923E-5" "01251" "ABCA4_000484" "g.94486895C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94021339C>T" "" "pathogenic (recessive)" ""
"0000937464" "0" "90" "1" "94510253" "94510253" "subst" "0.000247694" "01251" "ABCA4_000108" "g.94510253A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94044697A>G" "" "pathogenic (recessive)" ""
"0000937465" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01251" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000937466" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01251" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000937467" "1" "90" "1" "94522239" "94522239" "subst" "2.03305E-5" "01251" "ABCA4_000736" "g.94522239A>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94056683A>T" "" "pathogenic (recessive)" ""
"0000937468" "1" "90" "1" "94526295" "94526295" "subst" "3.69731E-5" "01251" "ABCA4_000114" "g.94526295C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94060739C>T" "" "pathogenic (recessive)" ""
"0000937469" "0" "70" "1" "94497334" "94497334" "subst" "0" "01251" "ABCA4_000574" "g.94497334C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94031778C>T" "" "likely pathogenic (recessive)" ""
"0000937470" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000937471" "0" "90" "1" "94508433" "94508433" "subst" "8.12209E-6" "01251" "ABCA4_000151" "g.94508433G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94042877G>A" "" "pathogenic (recessive)" ""
"0000937472" "1" "90" "1" "94496583" "94496583" "subst" "2.03092E-5" "01251" "ABCA4_000190" "g.94496583A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94031027A>G" "" "pathogenic (recessive)" ""
"0000937473" "3" "90" "1" "94528251" "94528251" "subst" "2.84824E-5" "01251" "ABCA4_000281" "g.94528251C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94062695C>T" "" "pathogenic (recessive)" ""
"0000937474" "0" "50" "1" "94520666" "94522379" "del" "0" "01251" "ABCA4_002708" "g.(94517255_94520666)_(94522379_94526092)del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.(94051699_94055110)_(94056823_94060536)del" "" "VUS" ""
"0000937475" "0" "90" "1" "94546118" "94546118" "subst" "8.13326E-6" "01251" "ABCA4_000082" "g.94546118A>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94080562A>C" "" "pathogenic (recessive)" ""
"0000937476" "0" "50" "1" "94528722" "94528722" "subst" "0" "01251" "ABCA4_002090" "g.94528722T>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94063166T>C" "" "VUS" ""
"0000937477" "1" "90" "1" "94564484" "94564484" "subst" "0.000110199" "01251" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94098928G>A" "" "pathogenic (recessive)" ""
"0000937478" "3" "90" "1" "94564484" "94564484" "subst" "0.000110199" "01251" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94098928G>A" "" "pathogenic (recessive)" ""
"0000937479" "0" "90" "1" "94492937" "94492937" "subst" "0" "01251" "ABCA4_000529" "g.94492937G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94027381G>A" "" "pathogenic (recessive)" ""
"0000937480" "3" "50" "1" "94506878" "94506878" "subst" "4.06081E-6" "01251" "ABCA4_001901" "g.94506878T>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94041322T>C" "" "VUS" ""
"0000937481" "1" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01251" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000937482" "0" "90" "1" "94544895" "94544895" "subst" "1.62455E-5" "01251" "ABCA4_000329" "g.94544895G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94079339G>A" "" "pathogenic (recessive)" ""
"0000937483" "1" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01251" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000937484" "0" "90" "1" "94528251" "94528251" "subst" "2.84824E-5" "01251" "ABCA4_000281" "g.94528251C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94062695C>T" "" "pathogenic (recessive)" ""
"0000937485" "0" "90" "1" "94546185" "94546185" "del" "0" "01251" "ABCA4_000350" "g.94546185del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94080629del" "" "pathogenic (recessive)" ""
"0000937486" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01251" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94062710G>A" "" "pathogenic (recessive)" ""
"0000937487" "0" "90" "1" "94508435" "94508436" "dup" "0" "01251" "ABCA4_000998" "g.94508435_94508436dup" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94042879_94042880dup" "" "pathogenic (recessive)" ""
"0000937488" "3" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01251" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000937489" "3" "90" "1" "94473797" "94473797" "del" "0" "01251" "ABCA4_000401" "g.94473797del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94008241del" "" "pathogenic (recessive)" ""
"0000937490" "3" "50" "1" "94476817" "94488975" "dup" "0" "01251" "ABCA4_002622" "g.(94476486_94476817)_(94488975_94490509)dup" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.(94010930_94011261)_(94023419_94024953)dup" "" "VUS" ""
"0000937491" "1" "70" "1" "94528272" "94528272" "subst" "4.06984E-6" "01251" "ABCA4_000999" "g.94528272C>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94062716C>A" "" "likely pathogenic (recessive)" ""
"0000937492" "1" "50" "1" "94568689" "94568689" "subst" "0" "01251" "ABCA4_001023" "g.94568689A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94103133A>G" "" "VUS" ""
"0000937493" "1" "50" "1" "94568689" "94568689" "subst" "0" "01251" "ABCA4_001023" "g.94568689A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94103133A>G" "" "VUS" ""
"0000937494" "0" "90" "1" "94510253" "94510253" "subst" "0.000247694" "01251" "ABCA4_000108" "g.94510253A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94044697A>G" "" "pathogenic (recessive)" ""
"0000937495" "0" "70" "1" "94512580" "94512580" "subst" "2.8431E-5" "01251" "ABCA4_000695" "g.94512580A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94047024A>G" "" "likely pathogenic (recessive)" ""
"0000937496" "1" "90" "1" "94497564" "94497564" "subst" "1.64383E-5" "01251" "ABCA4_000091" "g.94497564G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94032008G>A" "" "pathogenic (recessive)" ""
"0000937497" "0" "50" "1" "94564447" "94564447" "subst" "5.69013E-5" "01251" "ABCA4_000985" "g.94564447G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94098891G>A" "" "VUS" ""
"0000937498" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01251" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000937499" "0" "50" "1" "94476817" "94488975" "dup" "0" "01251" "ABCA4_002622" "g.(94476486_94476817)_(94488975_94490509)dup" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.(94010930_94011261)_(94023419_94024953)dup" "" "VUS" ""
"0000937500" "0" "90" "1" "94497474" "94497474" "subst" "0" "01251" "ABCA4_000583" "g.94497474C>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94031918C>A" "" "pathogenic (recessive)" ""
"0000937501" "3" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01251" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000937502" "3" "90" "1" "94577010" "94577010" "subst" "1.22004E-5" "01251" "ABCA4_000224" "g.94577010T>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94111454T>C" "" "pathogenic (recessive)" ""
"0000937503" "1" "70" "1" "94546264" "94546264" "subst" "4.08077E-6" "01251" "ABCA4_001352" "g.94546264C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94080708C>T" "" "likely pathogenic (recessive)" ""
"0000937504" "0" "90" "1" "94526212" "94526212" "subst" "1.22012E-5" "01251" "ABCA4_000075" "g.94526212G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94060656G>A" "" "pathogenic (recessive)" ""
"0000937505" "1" "90" "1" "94546248" "94546248" "del" "2.03666E-5" "01251" "ABCA4_000352" "g.94546248del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94080692del" "" "pathogenic (recessive)" ""
"0000937506" "1" "50" "1" "94496678" "94496678" "subst" "0" "01251" "ABCA4_002666" "g.94496678T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94031122T>A" "" "VUS" ""
"0000937507" "0" "90" "1" "94495009" "94495009" "dup" "0" "01251" "ABCA4_000087" "g.94495009dup" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94029453dup" "" "pathogenic (recessive)" ""
"0000937508" "0" "90" "1" "94496666" "94496666" "subst" "0.000219568" "01251" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "pathogenic (recessive)" ""
"0000937509" "1" "70" "1" "94586601" "94586601" "subst" "8.12156E-6" "01251" "ABCA4_000264" "g.94586601T>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94121045T>C" "" "likely pathogenic (recessive)" ""
"0000937510" "0" "70" "1" "94509018" "94509018" "subst" "8.12869E-6" "01251" "ABCA4_000659" "g.94509018C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94043462C>T" "" "likely pathogenic (recessive)" ""
"0000937511" "1" "50" "1" "94548943" "94548943" "subst" "0" "01251" "ABCA4_002746" "g.94548943C>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94083387C>A" "" "VUS" ""
"0000937512" "0" "70" "1" "94497334" "94497334" "subst" "0" "01251" "ABCA4_001076" "g.94497334C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94031778C>G" "" "likely pathogenic (recessive)" ""
"0000937513" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01251" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000937514" "0" "90" "1" "94484001" "94484001" "subst" "0" "01251" "ABCA4_000016" "g.94484001C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94018445C>T" "" "pathogenic (recessive)" ""
"0000937515" "0" "90" "1" "94497468" "94497468" "subst" "0" "01251" "ABCA4_000582" "g.94497468G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94031912G>A" "" "pathogenic (recessive)" ""
"0000937516" "1" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01251" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000937517" "0" "50" "1" "94544183" "94544183" "subst" "0.000146186" "01251" "ABCA4_000317" "g.94544183T>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94078627T>C" "" "VUS" ""
"0000937518" "0" "50" "1" "94495000" "94502295" "del" "0" "01251" "ABCA4_002658" "g.(94497600_94502295)_(94490605_94495000)del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.(94032044_94036739)_(94025049_94029444)del" "" "VUS" ""
"0000937519" "0" "90" "1" "94497564" "94497564" "subst" "1.64383E-5" "01251" "ABCA4_000091" "g.94497564G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94032008G>A" "" "pathogenic (recessive)" ""
"0000937520" "1" "90" "1" "94480241" "94480241" "subst" "7.71705E-5" "01251" "ABCA4_000446" "g.94480241G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94014685G>A" "" "pathogenic (recessive)" ""
"0000937521" "0" "50" "1" "94564385" "94564385" "subst" "1.21833E-5" "01251" "ABCA4_001244" "g.94564385A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94098829A>G" "" "VUS" ""
"0000937522" "0" "90" "1" "94564383" "94564383" "subst" "0" "01251" "ABCA4_000371" "g.94564383A>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94098827A>C" "" "pathogenic (recessive)" ""
"0000937523" "0" "90" "1" "94497588" "94497588" "subst" "4.153E-6" "01251" "ABCA4_000049" "g.94497588G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94032032G>A" "" "pathogenic (recessive)" ""
"0000937524" "1" "50" "1" "94543332" "94543332" "subst" "0" "01251" "ABCA4_002734" "g.94543332G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94077776G>A" "" "VUS" ""
"0000937525" "1" "90" "1" "94546115" "94546115" "subst" "0" "01251" "ABCA4_000984" "g.94546115A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94080559A>G" "" "pathogenic (recessive)" ""
"0000937526" "0" "90" "1" "94577102" "94577102" "subst" "4.06161E-6" "01251" "ABCA4_000033" "g.94577102C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94111546C>T" "" "pathogenic (recessive)" ""
"0000937527" "0" "90" "1" "94497588" "94497588" "subst" "4.153E-6" "01251" "ABCA4_000049" "g.94497588G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94032032G>A" "" "pathogenic (recessive)" ""
"0000937528" "1" "50" "1" "94568689" "94568689" "subst" "0" "01251" "ABCA4_001023" "g.94568689A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94103133A>G" "" "VUS" ""
"0000937529" "0" "90" "1" "94564484" "94564484" "subst" "0.000110199" "01251" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94098928G>A" "" "pathogenic (recessive)" ""
"0000937530" "0" "50" "1" "94568675" "94568675" "subst" "0.00146249" "01251" "ABCA4_000210" "g.94568675T>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94103119T>C" "" "VUS" ""
"0000937531" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01251" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94062710G>A" "" "pathogenic (recessive)" ""
"0000937532" "1" "90" "1" "94577010" "94577010" "subst" "1.22004E-5" "01251" "ABCA4_000224" "g.94577010T>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94111454T>C" "" "pathogenic (recessive)" ""
"0000937533" "0" "50" "1" "94546111" "94546117" "dup" "0" "01251" "ABCA4_002741" "g.94546111_94546117dup" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94080555_94080561dup" "" "VUS" ""
"0000937534" "0" "90" "1" "94528251" "94528251" "subst" "2.84824E-5" "01251" "ABCA4_000281" "g.94528251C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94062695C>T" "" "pathogenic (recessive)" ""
"0000937535" "1" "90" "1" "94564383" "94564383" "subst" "0" "01251" "ABCA4_000371" "g.94564383A>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94098827A>C" "" "pathogenic (recessive)" ""
"0000937536" "1" "90" "1" "94471056" "94471056" "subst" "2.84398E-5" "01251" "ABCA4_000050" "g.94471056G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "no variant 2nd chromosome" "Germline" "yes" "" "0" "" "" "g.94005500G>A" "" "pathogenic (recessive)" ""
"0000937537" "3" "50" "1" "94496574" "94496574" "subst" "4.06187E-6" "01251" "ABCA4_002664" "g.94496574C>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94031018C>A" "" "VUS" ""
"0000937538" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01251" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000937539" "0" "50" "1" "94506943" "94506943" "subst" "8.12183E-6" "01251" "ABCA4_001061" "g.94506943A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94041387A>G" "" "VUS" ""
"0000937540" "0" "90" "1" "94578596" "94578596" "subst" "4.06478E-6" "01251" "ABCA4_000250" "g.94578596C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94113040C>T" "" "pathogenic (recessive)" ""
"0000937541" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01251" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000937542" "0" "50" "1" "94502899" "94502899" "del" "0" "01251" "ABCA4_000920" "g.94502899del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94037343del" "" "VUS" ""
"0000937543" "0" "70" "1" "94502346" "94502346" "subst" "0" "01251" "ABCA4_000593" "g.94502346T>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94036790T>C" "" "likely pathogenic (recessive)" ""
"0000937544" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000937545" "0" "70" "1" "94486888" "94486888" "subst" "3.65548E-5" "01251" "ABCA4_000137" "g.94486888G>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94021332G>C" "" "likely pathogenic (recessive)" ""
"0000937546" "0" "90" "1" "94564484" "94564484" "subst" "0.000110199" "01251" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94098928G>A" "" "pathogenic (recessive)" ""
"0000937547" "3" "90" "1" "94544895" "94544895" "subst" "1.62455E-5" "01251" "ABCA4_000329" "g.94544895G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94079339G>A" "" "pathogenic (recessive)" ""
"0000937548" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000937549" "0" "90" "1" "94526296" "94526296" "subst" "1.64555E-5" "01251" "ABCA4_000768" "g.94526296G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94060740G>A" "" "pathogenic (recessive)" ""
"0000937550" "1" "90" "1" "94510253" "94510253" "subst" "0.000247694" "01251" "ABCA4_000108" "g.94510253A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94044697A>G" "" "pathogenic (recessive)" ""
"0000937551" "3" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000937552" "1" "90" "1" "94510253" "94510253" "subst" "0.000247694" "01251" "ABCA4_000108" "g.94510253A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94044697A>G" "" "pathogenic (recessive)" ""
"0000937553" "0" "90" "1" "94496666" "94496666" "subst" "0.000219568" "01251" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "pathogenic (recessive)" ""
"0000937554" "0" "90" "1" "94471065" "94471065" "subst" "0.000194997" "01251" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94005509G>A" "" "pathogenic (recessive)" ""
"0000937555" "1" "90" "1" "94509026" "94509026" "subst" "4.06497E-5" "01251" "ABCA4_000660" "g.94509026G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94043470G>A" "" "pathogenic (recessive)" ""
"0000937556" "0" "90" "1" "94564432" "94564432" "subst" "0" "01251" "ABCA4_001029" "g.94564432A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94098876A>G" "" "pathogenic (recessive)" ""
"0000937557" "0" "50" "1" "94510277" "94510277" "subst" "8.12123E-6" "01251" "ABCA4_000671" "g.94510277G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94044721G>A" "" "VUS" ""
"0000937558" "1" "90" "1" "94495983" "94495983" "subst" "8.12348E-6" "01251" "ABCA4_000547" "g.94495983C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94030427C>T" "" "pathogenic (recessive)" ""
"0000937559" "0" "90" "1" "94508997" "94508997" "subst" "0" "01251" "ABCA4_000112" "g.94508997G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94043441G>A" "" "pathogenic (recessive)" ""
"0000937560" "3" "50" "1" "94502296" "94502296" "subst" "0" "01251" "ABCA4_002670" "g.94502296C>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94036740C>A" "" "VUS" ""
"0000937561" "1" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01251" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000937562" "1" "90" "1" "94508435" "94508436" "dup" "0" "01251" "ABCA4_000998" "g.94508435_94508436dup" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94042879_94042880dup" "" "pathogenic (recessive)" ""
"0000937563" "1" "90" "1" "94473797" "94473797" "del" "0" "01251" "ABCA4_000401" "g.94473797del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "no variant 2nd chromosome" "Germline" "yes" "" "0" "" "" "g.94008241del" "" "pathogenic (recessive)" ""
"0000937564" "0" "50" "1" "94487490" "94487490" "subst" "0.00122268" "01251" "ABCA4_000506" "g.94487490A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94021934A>G" "" "VUS" ""
"0000937565" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01251" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000937566" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01251" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000937567" "1" "90" "1" "94476351" "94476351" "subst" "0.000296608" "01251" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94010795C>T" "" "pathogenic (recessive)" ""
"0000937568" "3" "90" "1" "94473278" "94473278" "del" "3.25908E-5" "01251" "ABCA4_000392" "g.94473278del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94007722del" "" "pathogenic (recessive)" ""
"0000937569" "1" "90" "1" "94564383" "94564383" "subst" "0" "01251" "ABCA4_000371" "g.94564383A>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94098827A>C" "" "pathogenic (recessive)" ""
"0000937570" "1" "70" "1" "94467476" "94467476" "subst" "0" "01251" "ABCA4_000781" "g.94467476C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94001920C>T" "" "likely pathogenic (recessive)" ""
"0000937571" "1" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01251" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000937572" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01251" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000937573" "1" "90" "1" "94528780" "94528780" "subst" "4.06171E-6" "01251" "ABCA4_000299" "g.94528780C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94063224C>T" "" "pathogenic (recessive)" ""
"0000937574" "1" "90" "1" "94577117" "94577117" "subst" "1.62472E-5" "01251" "ABCA4_000237" "g.94577117G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94111561G>A" "" "pathogenic (recessive)" ""
"0000937575" "0" "90" "1" "94473278" "94473278" "del" "3.25908E-5" "01251" "ABCA4_000392" "g.94473278del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94007722del" "" "pathogenic (recessive)" ""
"0000937576" "1" "90" "1" "94546118" "94546118" "subst" "8.13326E-6" "01251" "ABCA4_000082" "g.94546118A>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94080562A>C" "" "pathogenic (recessive)" ""
"0000937577" "0" "50" "1" "94568689" "94568689" "subst" "0" "01251" "ABCA4_001023" "g.94568689A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94103133A>G" "" "VUS" ""
"0000937578" "1" "50" "1" "94544906" "94544906" "subst" "0" "01251" "ABCA4_002739" "g.94544906G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94079350G>A" "" "VUS" ""
"0000937579" "1" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000937580" "1" "90" "1" "94564484" "94564484" "subst" "0.000110199" "01251" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94098928G>A" "" "pathogenic (recessive)" ""
"0000937581" "1" "90" "1" "94496547" "94496547" "subst" "1.21904E-5" "01251" "ABCA4_000559" "g.94496547C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94030991C>T" "" "pathogenic (recessive)" ""
"0000937582" "0" "90" "1" "94544895" "94544895" "subst" "1.62455E-5" "01251" "ABCA4_000329" "g.94544895G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94079339G>A" "" "pathogenic (recessive)" ""
"0000937583" "0" "90" "1" "94480241" "94480241" "subst" "7.71705E-5" "01251" "ABCA4_000446" "g.94480241G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94014685G>A" "" "pathogenic (recessive)" ""
"0000937584" "1" "90" "1" "94577010" "94577010" "subst" "1.22004E-5" "01251" "ABCA4_000224" "g.94577010T>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94111454T>C" "" "pathogenic (recessive)" ""
"0000937585" "1" "90" "1" "94526296" "94526296" "subst" "1.64555E-5" "01251" "ABCA4_000768" "g.94526296G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94060740G>A" "" "pathogenic (recessive)" ""
"0000937586" "0" "50" "1" "94476880" "94476880" "subst" "0" "01251" "ABCA4_002625" "g.94476880A>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94011324A>T" "" "VUS" ""
"0000937587" "3" "90" "1" "94496666" "94496666" "subst" "0.000219568" "01251" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "pathogenic (recessive)" ""
"0000937588" "1" "90" "1" "94526230" "94526230" "subst" "7.32136E-5" "01251" "ABCA4_000760" "g.94526230C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94060674C>T" "" "pathogenic (recessive)" ""
"0000937589" "1" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01251" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000937590" "1" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01251" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000937591" "1" "90" "1" "94497393" "94497393" "subst" "2.04188E-5" "01251" "ABCA4_000578" "g.94497393C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94031837C>T" "" "pathogenic (recessive)" ""
"0000937592" "3" "90" "1" "94546118" "94546118" "subst" "8.13326E-6" "01251" "ABCA4_000082" "g.94546118A>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94080562A>C" "" "pathogenic (recessive)" ""
"0000937593" "1" "90" "1" "94486896" "94486896" "subst" "3.65562E-5" "01251" "ABCA4_000085" "g.94486896G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94021340G>A" "" "pathogenic (recessive)" ""
"0000937594" "1" "50" "1" "94564462" "94564462" "subst" "4.06775E-5" "01251" "ABCA4_000380" "g.94564462C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94098906C>G" "" "VUS" ""
"0000937595" "1" "50" "1" "94506878" "94506878" "subst" "4.06081E-6" "01251" "ABCA4_001901" "g.94506878T>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "no variant 2nd chromosome" "Germline" "yes" "" "0" "" "" "g.94041322T>C" "" "VUS" ""
"0000937596" "0" "90" "1" "94546118" "94546118" "subst" "8.13326E-6" "01251" "ABCA4_000082" "g.94546118A>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94080562A>C" "" "pathogenic (recessive)" ""
"0000937597" "0" "90" "1" "94476351" "94476351" "subst" "0.000296608" "01251" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "pathogenic (recessive)" ""
"0000937598" "3" "90" "1" "94564463" "94564463" "subst" "0" "01251" "ABCA4_000381" "g.94564463T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94098907T>A" "" "pathogenic (recessive)" ""
"0000937599" "0" "90" "1" "94476351" "94476351" "subst" "0.000296608" "01251" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "pathogenic (recessive)" ""
"0000937600" "3" "90" "1" "94466615" "94466615" "subst" "0" "01251" "ABCA4_000836" "g.94466615C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94001059C>T" "" "pathogenic (recessive)" ""
"0000937601" "1" "50" "1" "94502912" "94502912" "del" "0" "01251" "ABCA4_002676" "g.94502912del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94037356del" "" "VUS" ""
"0000937602" "1" "70" "1" "94520684" "94520684" "del" "0" "01251" "ABCA4_000709" "g.94520684del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94055128del" "" "likely pathogenic (recessive)" ""
"0000937603" "3" "90" "1" "94466422" "94466422" "subst" "2.43651E-5" "01251" "ABCA4_000817" "g.94466422C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94000866C>T" "" "pathogenic (recessive)" ""
"0000937604" "1" "90" "1" "94512499" "94512499" "subst" "0.000130029" "01251" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94046943T>C" "" "pathogenic (recessive)" ""
"0000937605" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01251" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000937606" "1" "70" "1" "94520684" "94520684" "del" "0" "01251" "ABCA4_000709" "g.94520684del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94055128del" "" "likely pathogenic (recessive)" ""
"0000937607" "1" "70" "1" "94520684" "94520684" "del" "0" "01251" "ABCA4_000709" "g.94520684del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94055128del" "" "likely pathogenic (recessive)" ""
"0000937608" "1" "70" "1" "94506959" "94506959" "subst" "8.12321E-6" "01251" "ABCA4_001078" "g.94506959C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "no variant 2nd chromosome" "Germline" "yes" "" "0" "" "" "g.94041403C>T" "" "likely pathogenic (recessive)" ""
"0000937609" "1" "70" "1" "94512602" "94512602" "subst" "0.000369717" "01251" "ABCA4_000052" "g.94512602C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94047046C>T" "" "likely pathogenic (recessive)" ""
"0000937610" "0" "90" "1" "94496666" "94496666" "subst" "0.000219568" "01251" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "pathogenic (recessive)" ""
"0000937611" "3" "90" "1" "94473797" "94473797" "del" "0" "01251" "ABCA4_000401" "g.94473797del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94008241del" "" "pathogenic (recessive)" ""
"0000937612" "1" "90" "1" "94508435" "94508436" "dup" "0" "01251" "ABCA4_000998" "g.94508435_94508436dup" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94042879_94042880dup" "" "pathogenic (recessive)" ""
"0000937613" "0" "90" "1" "94471065" "94471065" "subst" "0.000194997" "01251" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94005509G>A" "" "pathogenic (recessive)" ""
"0000937614" "1" "90" "1" "94471056" "94471056" "subst" "2.84398E-5" "01251" "ABCA4_000050" "g.94471056G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94005500G>A" "" "pathogenic (recessive)" ""
"0000937615" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000937616" "1" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01251" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000937617" "1" "90" "1" "94528806" "94528806" "subst" "0.000150298" "01251" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94063250A>G" "" "pathogenic (recessive)" ""
"0000937618" "1" "90" "1" "94546118" "94546118" "subst" "8.13326E-6" "01251" "ABCA4_000082" "g.94546118A>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94080562A>C" "" "pathogenic (recessive)" ""
"0000937619" "0" "90" "1" "94528806" "94528806" "subst" "0.000150298" "01251" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "pathogenic (recessive)" ""
"0000937620" "1" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01251" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000937621" "1" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01251" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000937622" "0" "70" "1" "94486888" "94486888" "subst" "3.65548E-5" "01251" "ABCA4_000137" "g.94486888G>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94021332G>C" "" "likely pathogenic (recessive)" ""
"0000937623" "1" "90" "1" "94568687" "94568687" "subst" "1.62641E-5" "01251" "ABCA4_000024" "g.94568687G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94103131G>A" "" "pathogenic (recessive)" ""
"0000937624" "0" "90" "1" "94480178" "94480178" "subst" "2.43692E-5" "01251" "ABCA4_000005" "g.94480178G>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94014622G>T" "" "pathogenic (recessive)" ""
"0000937625" "1" "90" "1" "94528819" "94528819" "subst" "2.03128E-5" "01251" "ABCA4_000078" "g.94528819G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94063263G>A" "" "pathogenic (recessive)" ""
"0000937626" "0" "90" "1" "94506923" "94506923" "subst" "2.43657E-5" "01251" "ABCA4_000012" "g.94506923C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94041367C>T" "" "pathogenic (recessive)" ""
"0000937627" "0" "90" "1" "94476351" "94476351" "subst" "0.000296608" "01251" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "pathogenic (recessive)" ""
"0000937628" "0" "90" "1" "94526295" "94526295" "subst" "3.69731E-5" "01251" "ABCA4_000114" "g.94526295C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94060739C>T" "" "pathogenic (recessive)" ""
"0000937629" "0" "90" "1" "94520690" "94520690" "subst" "2.03102E-5" "01251" "ABCA4_000149" "g.94520690C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94055134C>T" "" "pathogenic (recessive)" ""
"0000937630" "1" "90" "1" "94528806" "94528806" "subst" "0.000150298" "01251" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94063250A>G" "" "pathogenic (recessive)" ""
"0000937631" "0" "90" "1" "94471065" "94471065" "subst" "0.000194997" "01251" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94005509G>A" "" "pathogenic (recessive)" ""
"0000937632" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01251" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000937633" "1" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01251" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000937634" "1" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01251" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000937635" "0" "90" "1" "94526186" "94526186" "del" "0" "01251" "ABCA4_000754" "g.94526186del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94060630del" "" "pathogenic (recessive)" ""
"0000937636" "0" "90" "1" "94526186" "94526186" "del" "0" "01251" "ABCA4_000754" "g.94526186del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94060630del" "" "pathogenic (recessive)" ""
"0000937637" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01251" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000937638" "0" "90" "1" "94496666" "94496666" "subst" "0.000219568" "01251" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "pathogenic (recessive)" ""
"0000937639" "0" "90" "1" "94517248" "94517249" "del" "0" "01251" "ABCA4_001079" "g.94517248_94517249del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94051692_94051693del" "" "pathogenic (recessive)" ""
"0000937640" "0" "50" "1" "94512574" "94512574" "subst" "0.00025589" "01251" "ABCA4_000694" "g.94512574G>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94047018G>C" "" "VUS" ""
"0000937641" "3" "90" "1" "94546118" "94546118" "subst" "8.13326E-6" "01251" "ABCA4_000082" "g.94546118A>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94080562A>C" "" "pathogenic (recessive)" ""
"0000937642" "0" "50" "1" "94564447" "94564447" "subst" "5.69013E-5" "01251" "ABCA4_000985" "g.94564447G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94098891G>A" "" "VUS" ""
"0000937643" "1" "70" "1" "94466624" "94466624" "subst" "0.0014345" "01251" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "no variant 2nd chromosome" "Germline" "yes" "" "0" "" "" "g.94001068C>T" "" "likely pathogenic (recessive)" ""
"0000937644" "1" "50" "1" "94512484" "94512484" "subst" "0" "01251" "ABCA4_000680" "g.94512484G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94046928G>A" "" "VUS" ""
"0000937645" "1" "70" "1" "94466624" "94466624" "subst" "0.0014345" "01251" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94001068C>T" "" "likely pathogenic (recessive)" ""
"0000937646" "0" "90" "1" "94577093" "94577093" "subst" "8.12394E-6" "01251" "ABCA4_000147" "g.94577093G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94111537G>A" "" "pathogenic (recessive)" ""
"0000937647" "0" "90" "1" "94564484" "94564484" "subst" "0.000110199" "01251" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94098928G>A" "" "pathogenic (recessive)" ""
"0000937648" "0" "50" "1" "94508983" "94508983" "del" "0" "01251" "ABCA4_002689" "g.94508983del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94043427del" "" "VUS" ""
"0000937649" "0" "90" "1" "94544895" "94544895" "subst" "1.62455E-5" "01251" "ABCA4_000329" "g.94544895G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94079339G>A" "" "pathogenic (recessive)" ""
"0000937650" "0" "50" "1" "94528668" "94528668" "subst" "0" "01251" "ABCA4_002724" "g.94528668C>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94063112C>A" "" "VUS" ""
"0000937651" "1" "50" "1" "94514495" "94514498" "del" "0" "01251" "ABCA4_002703" "g.94514495_94514498del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94048939_94048942del" "" "VUS" ""
"0000937652" "1" "90" "1" "94508435" "94508436" "dup" "0" "01251" "ABCA4_000998" "g.94508435_94508436dup" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94042879_94042880dup" "" "pathogenic (recessive)" ""
"0000937653" "1" "90" "1" "94577010" "94577010" "subst" "1.22004E-5" "01251" "ABCA4_000224" "g.94577010T>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94111454T>C" "" "pathogenic (recessive)" ""
"0000937654" "1" "90" "1" "94546118" "94546118" "subst" "8.13326E-6" "01251" "ABCA4_000082" "g.94546118A>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94080562A>C" "" "pathogenic (recessive)" ""
"0000937655" "1" "90" "1" "94564484" "94564484" "subst" "0.000110199" "01251" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94098928G>A" "" "pathogenic (recessive)" ""
"0000937656" "0" "70" "1" "94528226" "94528226" "subst" "0" "01251" "ABCA4_002077" "g.94528226A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94062670A>G" "" "likely pathogenic (recessive)" ""
"0000937657" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01251" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000937658" "1" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01251" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000937659" "0" "90" "1" "94544895" "94544895" "subst" "1.62455E-5" "01251" "ABCA4_000329" "g.94544895G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94079339G>A" "" "pathogenic (recessive)" ""
"0000937660" "1" "90" "1" "94564484" "94564484" "subst" "0.000110199" "01251" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94098928G>A" "" "pathogenic (recessive)" ""
"0000937661" "0" "90" "1" "94495071" "94495071" "subst" "6.39479E-5" "01251" "ABCA4_000997" "g.94495071C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94029515C>T" "" "pathogenic (recessive)" ""
"0000937662" "1" "90" "1" "94564484" "94564484" "subst" "0.000110199" "01251" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94098928G>A" "" "pathogenic (recessive)" ""
"0000937663" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01251" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000937664" "0" "50" "1" "94528193" "94528193" "subst" "3.25362E-5" "01251" "ABCA4_002722" "g.94528193G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94062637G>A" "" "VUS" ""
"0000937665" "1" "90" "1" "94508435" "94508436" "dup" "0" "01251" "ABCA4_000998" "g.94508435_94508436dup" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94042879_94042880dup" "" "pathogenic (recessive)" ""
"0000937666" "0" "90" "1" "94495083" "94495083" "subst" "0.000124542" "01251" "ABCA4_000542" "g.94495083G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94029527G>A" "" "pathogenic (recessive)" ""
"0000937667" "3" "50" "1" "94496577" "94496577" "subst" "0" "01251" "ABCA4_002665" "g.94496577A>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94031021A>T" "" "VUS" ""
"0000937668" "1" "90" "1" "94528806" "94528806" "subst" "0.000150298" "01251" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94063250A>G" "" "pathogenic (recessive)" ""
"0000937669" "0" "90" "1" "94546118" "94546118" "subst" "8.13326E-6" "01251" "ABCA4_000082" "g.94546118A>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94080562A>C" "" "pathogenic (recessive)" ""
"0000937670" "1" "90" "1" "94463453" "94463453" "del" "0" "01251" "ABCA4_001565" "g.94463453del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.93997897del" "" "pathogenic (recessive)" ""
"0000937671" "3" "50" "1" "94508969" "94508969" "subst" "0" "01251" "ABCA4_002688" "g.94508969G>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94043413G>T" "" "VUS" ""
"0000937672" "3" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01251" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000937673" "1" "90" "1" "94528806" "94528806" "subst" "0.000150298" "01251" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94063250A>G" "" "pathogenic (recessive)" ""
"0000937674" "0" "90" "1" "94467515" "94467518" "del" "0" "01251" "ABCA4_001380" "g.94467515_94467518del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94001959_94001962del" "" "pathogenic (recessive)" ""
"0000937675" "1" "70" "1" "94512602" "94512602" "subst" "0.000369717" "01251" "ABCA4_000052" "g.94512602C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94047046C>T" "" "likely pathogenic (recessive)" ""
"0000937676" "3" "90" "1" "94564484" "94564484" "subst" "0.000110199" "01251" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94098928G>A" "" "pathogenic (recessive)" ""
"0000937677" "0" "90" "1" "94526296" "94526296" "subst" "1.64555E-5" "01251" "ABCA4_000768" "g.94526296G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94060740G>A" "" "pathogenic (recessive)" ""
"0000937678" "0" "90" "1" "94466422" "94466422" "subst" "2.43651E-5" "01251" "ABCA4_000817" "g.94466422C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94000866C>T" "" "pathogenic (recessive)" ""
"0000937679" "0" "90" "1" "94497495" "94497495" "del" "0" "01251" "ABCA4_000584" "g.94497495del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94031939del" "" "pathogenic (recessive)" ""
"0000937680" "0" "90" "1" "94480232" "94480232" "subst" "0" "01251" "ABCA4_000444" "g.94480232G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94014676G>A" "" "pathogenic (recessive)" ""
"0000937681" "0" "90" "1" "94480178" "94480178" "subst" "2.43692E-5" "01251" "ABCA4_000005" "g.94480178G>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94014622G>T" "" "pathogenic (recessive)" ""
"0000937682" "0" "50" "1" "94474378" "94474379" "ins" "0" "01251" "ABCA4_002615" "g.94474378_94474379insAC" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94008822_94008823insAC" "" "VUS" ""
"0000937683" "1" "90" "1" "94508435" "94508436" "dup" "0" "01251" "ABCA4_000998" "g.94508435_94508436dup" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94042879_94042880dup" "" "pathogenic (recessive)" ""
"0000937684" "0" "90" "1" "94528806" "94528806" "subst" "0.000150298" "01251" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "pathogenic (recessive)" ""
"0000937685" "0" "90" "1" "94586550" "94586550" "subst" "1.21864E-5" "01251" "ABCA4_000037" "g.94586550G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94120994G>A" "" "pathogenic (recessive)" ""
"0000937686" "0" "90" "1" "94526296" "94526296" "subst" "1.64555E-5" "01251" "ABCA4_000768" "g.94526296G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94060740G>A" "" "pathogenic (recessive)" ""
"0000937687" "1" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01251" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000937688" "1" "50" "1" "94496509" "94496509" "subst" "0.00475243" "01251" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94030953C>T" "" "VUS" ""
"0000937689" "0" "90" "1" "94577117" "94577117" "subst" "1.62472E-5" "01251" "ABCA4_000237" "g.94577117G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94111561G>A" "" "pathogenic (recessive)" ""
"0000937690" "0" "50" "1" "94578603" "94578603" "subst" "0" "01251" "ABCA4_002242" "g.94578603A>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94113047A>C" "" "VUS" ""
"0000937691" "3" "90" "1" "94495071" "94495071" "subst" "6.39479E-5" "01251" "ABCA4_000997" "g.94495071C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94029515C>T" "" "pathogenic (recessive)" ""
"0000937692" "0" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01251" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic (recessive)" ""
"0000937693" "1" "70" "1" "94564460" "94564460" "subst" "8.1355E-6" "01251" "ABCA4_000056" "g.94564460G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94098904G>A" "" "likely pathogenic (recessive)" ""
"0000937694" "0" "50" "1" "94490507" "94490507" "subst" "0" "01251" "ABCA4_002651" "g.94490507T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94024951T>A" "" "VUS" ""
"0000937695" "0" "90" "1" "94480178" "94480178" "subst" "2.43692E-5" "01251" "ABCA4_000005" "g.94480178G>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94014622G>T" "" "pathogenic (recessive)" ""
"0000937696" "0" "90" "1" "94480241" "94480241" "subst" "7.71705E-5" "01251" "ABCA4_000446" "g.94480241G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94014685G>A" "" "pathogenic (recessive)" ""
"0000937697" "1" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01251" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000937698" "1" "90" "1" "94564484" "94564484" "subst" "0.000110199" "01251" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94098928G>A" "" "pathogenic (recessive)" ""
"0000937699" "3" "90" "1" "94490577" "94490577" "subst" "0" "01251" "ABCA4_001791" "g.94490577G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94025021G>A" "" "pathogenic (recessive)" ""
"0000937700" "3" "50" "1" "94520841" "94520841" "subst" "0" "01251" "ABCA4_002710" "g.94520841C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94055285C>G" "" "VUS" ""
"0000937701" "0" "90" "1" "94528806" "94528806" "subst" "0.000150298" "01251" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "pathogenic (recessive)" ""
"0000937702" "0" "70" "1" "94466624" "94466624" "subst" "0.0014345" "01251" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94001068C>T" "" "likely pathogenic (recessive)" ""
"0000937703" "1" "70" "1" "94528667" "94528667" "subst" "0" "01251" "ABCA4_001073" "g.94528667C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94063111C>T" "" "likely pathogenic (recessive)" ""
"0000937704" "0" "90" "1" "94546118" "94546118" "subst" "8.13326E-6" "01251" "ABCA4_000082" "g.94546118A>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94080562A>C" "" "pathogenic (recessive)" ""
"0000937705" "0" "90" "1" "94480248" "94480248" "del" "0" "01251" "ABCA4_001056" "g.94480248del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94014692del" "" "pathogenic (recessive)" ""
"0000937706" "0" "90" "1" "94496666" "94496666" "subst" "0.000219568" "01251" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "pathogenic (recessive)" ""
"0000937707" "1" "50" "1" "94522285" "94522285" "dup" "0" "01251" "ABCA4_002713" "g.94522285dup" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94056729dup" "" "VUS" ""
"0000937708" "0" "90" "1" "94471055" "94471055" "subst" "0.00035346" "01251" "ABCA4_000029" "g.94471055C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94005499C>T" "" "pathogenic (recessive)" ""
"0000937709" "1" "90" "1" "94495983" "94495983" "subst" "8.12348E-6" "01251" "ABCA4_000547" "g.94495983C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94030427C>T" "" "pathogenic (recessive)" ""
"0000937710" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01251" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94062710G>A" "" "pathogenic (recessive)" ""
"0000937711" "1" "90" "1" "94546185" "94546185" "del" "0" "01251" "ABCA4_000350" "g.94546185del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94080629del" "" "pathogenic (recessive)" ""
"0000937712" "0" "90" "1" "94466557" "94466557" "subst" "4.06154E-6" "01251" "ABCA4_000832" "g.94466557C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94001001C>T" "" "pathogenic (recessive)" ""
"0000937713" "0" "90" "1" "94496020" "94496020" "subst" "8.12143E-6" "01251" "ABCA4_000014" "g.94496020C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94030464C>T" "" "pathogenic (recessive)" ""
"0000937714" "0" "90" "1" "94463488" "94463488" "subst" "5.2803E-5" "01251" "ABCA4_000802" "g.94463488G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.93997932G>A" "" "pathogenic (recessive)" ""
"0000937715" "0" "90" "1" "94546118" "94546118" "subst" "8.13326E-6" "01251" "ABCA4_000082" "g.94546118A>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94080562A>C" "" "pathogenic (recessive)" ""
"0000937716" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01251" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000937717" "1" "70" "1" "94466657" "94466657" "subst" "0" "01251" "ABCA4_000843" "g.94466657T>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94001101T>C" "" "likely pathogenic (recessive)" ""
"0000937718" "0" "70" "1" "94520684" "94520684" "del" "0" "01251" "ABCA4_000709" "g.94520684del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94055128del" "" "likely pathogenic (recessive)" ""
"0000937719" "1" "90" "1" "94546047" "94546047" "subst" "0" "01251" "ABCA4_000150" "g.94546047A>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94080491A>T" "" "pathogenic (recessive)" ""
"0000937720" "1" "90" "1" "94564484" "94564484" "subst" "0.000110199" "01251" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94098928G>A" "" "pathogenic (recessive)" ""
"0000937721" "3" "70" "1" "94480235" "94480235" "subst" "8.12236E-6" "01251" "ABCA4_000445" "g.94480235A>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94014679A>T" "" "likely pathogenic (recessive)" ""
"0000937722" "1" "90" "1" "94568687" "94568687" "subst" "1.62641E-5" "01251" "ABCA4_000024" "g.94568687G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94103131G>A" "" "pathogenic (recessive)" ""
"0000937723" "3" "90" "1" "94578618" "94578618" "subst" "0.000166918" "01251" "ABCA4_000252" "g.94578618C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94113062C>T" "" "pathogenic (recessive)" ""
"0000937724" "0" "50" "1" "94512525" "94512525" "subst" "0" "01251" "ABCA4_001984" "g.94512525G>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94046969G>T" "" "VUS" ""
"0000937725" "1" "50" "1" "94528129" "94528129" "subst" "0" "01251" "ABCA4_002720" "g.94528129T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94062573T>A" "" "VUS" ""
"0000937726" "0" "50" "1" "94526289" "94526289" "subst" "0" "01251" "ABCA4_002719" "g.94526289A>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94060733A>T" "" "VUS" ""
"0000937727" "0" "50" "1" "94495055" "94495059" "delins" "0" "01251" "ABCA4_002661" "g.94495055_94495059delinsTGC" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94029499_94029503delinsTGC" "" "VUS" ""
"0000937728" "1" "50" "1" "94522282" "94522282" "subst" "0" "01251" "ABCA4_002712" "g.94522282T>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94056726T>G" "" "VUS" ""
"0000937729" "1" "90" "1" "94526212" "94526212" "subst" "1.22012E-5" "01251" "ABCA4_000075" "g.94526212G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94060656G>A" "" "pathogenic (recessive)" ""
"0000937730" "0" "50" "1" "94508356" "94508356" "subst" "0" "01251" "ABCA4_002683" "g.94508356T>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94042800T>C" "" "VUS" ""
"0000937731" "3" "70" "1" "94502346" "94502346" "subst" "0" "01251" "ABCA4_000593" "g.94502346T>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94036790T>C" "" "likely pathogenic (recessive)" ""
"0000937732" "0" "90" "1" "94490567" "94490567" "subst" "5.68528E-5" "01251" "ABCA4_000026" "g.94490567G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94025011G>A" "" "pathogenic (recessive)" ""
"0000937733" "1" "70" "1" "94528667" "94528667" "subst" "0" "01251" "ABCA4_001073" "g.94528667C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94063111C>T" "" "likely pathogenic (recessive)" ""
"0000937734" "1" "50" "1" "94528148" "94528148" "subst" "0" "01251" "ABCA4_000777" "g.94528148C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94062592C>G" "" "VUS" ""
"0000937735" "0" "50" "1" "94543248" "94543248" "subst" "0" "01251" "ABCA4_002730" "g.94543248C>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94077692C>A" "" "VUS" ""
"0000937736" "1" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01251" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000937737" "1" "90" "1" "94496610" "94496610" "subst" "2.03128E-5" "01251" "ABCA4_000571" "g.94496610C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94031054C>T" "" "pathogenic (recessive)" ""
"0000937738" "1" "90" "1" "94522239" "94522239" "subst" "2.03305E-5" "01251" "ABCA4_000736" "g.94522239A>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94056683A>T" "" "pathogenic (recessive)" ""
"0000937739" "3" "90" "1" "94473266" "94473266" "subst" "8.14677E-6" "01251" "ABCA4_000389" "g.94473266C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94007710C>T" "" "pathogenic (recessive)" ""
"0000937740" "3" "90" "1" "94496583" "94496583" "subst" "2.03092E-5" "01251" "ABCA4_000190" "g.94496583A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94031027A>G" "" "pathogenic (recessive)" ""
"0000937741" "0" "90" "1" "94528251" "94528251" "subst" "0" "01251" "ABCA4_000077" "g.94528251C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94062695C>G" "" "pathogenic (recessive)" ""
"0000937742" "1" "90" "1" "94564432" "94564432" "subst" "0" "01251" "ABCA4_001029" "g.94564432A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94098876A>G" "" "pathogenic (recessive)" ""
"0000937743" "1" "50" "1" "94520828" "94520828" "subst" "4.06961E-6" "01251" "ABCA4_002709" "g.94520828A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94055272A>G" "" "VUS" ""
"0000937744" "3" "70" "1" "94546114" "94546114" "subst" "0" "01251" "ABCA4_000983" "g.94546114T>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94080558T>C" "" "likely pathogenic (recessive)" ""
"0000937745" "1" "50" "1" "94485283" "94485283" "subst" "1.64078E-5" "01251" "ABCA4_001734" "g.94485283A>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94019727A>T" "" "VUS" ""
"0000937746" "1" "50" "1" "94528148" "94528148" "subst" "0" "01251" "ABCA4_000777" "g.94528148C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94062592C>G" "" "VUS" ""
"0000937747" "1" "90" "1" "94508435" "94508436" "dup" "0" "01251" "ABCA4_000998" "g.94508435_94508436dup" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94042879_94042880dup" "" "pathogenic (recessive)" ""
"0000937748" "1" "50" "1" "94487490" "94487490" "subst" "0.00122268" "01251" "ABCA4_000506" "g.94487490A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94021934A>G" "" "VUS" ""
"0000937749" "0" "90" "1" "94466628" "94466628" "subst" "0.000109748" "01251" "ABCA4_000094" "g.94466628G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94001072G>A" "" "pathogenic (recessive)" ""
"0000937750" "0" "90" "1" "94528806" "94528806" "subst" "0.000150298" "01251" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "pathogenic (recessive)" ""
"0000937751" "1" "90" "1" "94546248" "94546248" "del" "2.03666E-5" "01251" "ABCA4_000352" "g.94546248del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94080692del" "" "pathogenic (recessive)" ""
"0000937752" "1" "90" "1" "94564484" "94564484" "subst" "0.000110199" "01251" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94098928G>A" "" "pathogenic (recessive)" ""
"0000937753" "0" "90" "1" "94528806" "94528806" "subst" "0.000150298" "01251" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "pathogenic (recessive)" ""
"0000937754" "1" "90" "1" "94564484" "94564484" "subst" "0.000110199" "01251" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94098928G>A" "" "pathogenic (recessive)" ""
"0000937755" "1" "90" "1" "94486794" "94486794" "subst" "0" "01251" "ABCA4_000478" "g.94486794A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94021238A>G" "" "pathogenic (recessive)" ""
"0000937756" "1" "90" "1" "94577031" "94577031" "subst" "0" "01251" "ABCA4_000226" "g.94577031C>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94111475C>A" "" "pathogenic (recessive)" ""
"0000937757" "0" "50" "1" "94495001" "94495001" "subst" "0" "01251" "ABCA4_002659" "g.94495001C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94029445C>G" "" "VUS" ""
"0000937758" "0" "90" "1" "94528806" "94528806" "subst" "0.000150298" "01251" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "pathogenic (recessive)" ""
"0000937759" "1" "90" "1" "94508356" "94508356" "subst" "0" "01251" "ABCA4_000635" "g.94508356T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94042800T>A" "" "pathogenic (recessive)" ""
"0000937760" "0" "50" "1" "94487200" "94487200" "subst" "0" "01251" "ABCA4_002640" "g.94487200A>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94021644A>T" "" "VUS" ""
"0000937761" "3" "90" "1" "94528132" "94528132" "subst" "4.06835E-6" "01251" "ABCA4_000773" "g.94528132C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94062576C>T" "" "pathogenic (recessive)" ""
"0000937762" "1" "50" "1" "94528783" "94528783" "subst" "0" "01251" "ABCA4_002726" "g.94528783C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94063227C>T" "" "VUS" ""
"0000937763" "3" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01251" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000937764" "0" "70" "1" "94578623" "94578623" "subst" "0" "01251" "ABCA4_001481" "g.94578623C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94113067C>G" "" "likely pathogenic (recessive)" ""
"0000937765" "0" "90" "1" "94496583" "94496583" "subst" "2.03092E-5" "01251" "ABCA4_000190" "g.94496583A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94031027A>G" "" "pathogenic (recessive)" ""
"0000937766" "0" "70" "1" "94564408" "94564408" "subst" "4.06128E-6" "01251" "ABCA4_001066" "g.94564408A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94098852A>G" "" "likely pathogenic (recessive)" ""
"0000937767" "3" "50" "1" "94473188" "94473188" "subst" "0" "01251" "ABCA4_002609" "g.94473188A>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94007632A>T" "" "VUS" ""
"0000937768" "1" "50" "1" "94480188" "94480188" "subst" "0" "01251" "ABCA4_002626" "g.94480188C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94014632C>T" "" "VUS" ""
"0000937769" "0" "90" "1" "94528806" "94528806" "subst" "0.000150298" "01251" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "pathogenic (recessive)" ""
"0000937770" "0" "70" "1" "94564430" "94564430" "subst" "0" "01251" "ABCA4_002182" "g.94564430A>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94098874A>C" "" "likely pathogenic (recessive)" ""
"0000937771" "0" "90" "1" "94508384" "94508384" "subst" "0" "01251" "ABCA4_000641" "g.94508384T>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94042828T>G" "" "pathogenic (recessive)" ""
"0000937772" "0" "90" "1" "94486896" "94486896" "subst" "3.65562E-5" "01251" "ABCA4_000085" "g.94486896G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94021340G>A" "" "pathogenic (recessive)" ""
"0000937773" "1" "50" "1" "94512500" "94512500" "subst" "0" "01251" "ABCA4_002697" "g.94512500T>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94046944T>G" "" "VUS" ""
"0000937774" "1" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01251" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000937775" "0" "90" "1" "94546047" "94546047" "subst" "0" "01251" "ABCA4_000150" "g.94546047A>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94080491A>T" "" "pathogenic (recessive)" ""
"0000937776" "0" "90" "1" "94544895" "94544895" "subst" "1.62455E-5" "01251" "ABCA4_000329" "g.94544895G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94079339G>A" "" "pathogenic (recessive)" ""
"0000937777" "1" "90" "1" "94497393" "94497393" "subst" "2.04188E-5" "01251" "ABCA4_000578" "g.94497393C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94031837C>T" "" "pathogenic (recessive)" ""
"0000937778" "0" "90" "1" "94496583" "94496583" "subst" "2.03092E-5" "01251" "ABCA4_000190" "g.94496583A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94031027A>G" "" "pathogenic (recessive)" ""
"0000937779" "1" "90" "1" "94476424" "94476424" "subst" "2.43694E-5" "01251" "ABCA4_000418" "g.94476424C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94010868C>T" "" "pathogenic (recessive)" ""
"0000937780" "1" "90" "1" "94564432" "94564432" "subst" "0" "01251" "ABCA4_001029" "g.94564432A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94098876A>G" "" "pathogenic (recessive)" ""
"0000937781" "1" "90" "1" "94474381" "94474382" "dup" "0" "01251" "ABCA4_000409" "g.94474381_94474382dup" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94008825_94008826dup" "" "pathogenic (recessive)" ""
"0000937782" "0" "90" "1" "94496605" "94496605" "subst" "0" "01251" "ABCA4_000570" "g.94496605G>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94031049G>T" "" "pathogenic (recessive)" ""
"0000937783" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01251" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000937784" "0" "90" "1" "94495009" "94495009" "dup" "0" "01251" "ABCA4_000087" "g.94495009dup" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94029453dup" "" "pathogenic (recessive)" ""
"0000937785" "1" "50" "1" "94508893" "94508909" "delins" "0" "01251" "ABCA4_001946" "g.94508893_94508909delinsACAAC" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94043337_94043353delinsACAAC" "" "VUS" ""
"0000937786" "0" "70" "1" "94487505" "94487505" "subst" "4.06349E-6" "01251" "ABCA4_000507" "g.94487505T>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94021949T>C" "" "likely pathogenic (recessive)" ""
"0000937787" "3" "90" "1" "94473278" "94473278" "del" "3.25908E-5" "01251" "ABCA4_000392" "g.94473278del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94007722del" "" "pathogenic (recessive)" ""
"0000937788" "0" "90" "1" "94476351" "94476351" "subst" "0.000296608" "01251" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "pathogenic (recessive)" ""
"0000937789" "0" "90" "1" "94496666" "94496666" "subst" "0.000219568" "01251" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "pathogenic (recessive)" ""
"0000937790" "0" "90" "1" "94546047" "94546047" "subst" "0" "01251" "ABCA4_000150" "g.94546047A>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94080491A>T" "" "pathogenic (recessive)" ""
"0000937791" "1" "90" "1" "94520690" "94520690" "subst" "2.03102E-5" "01251" "ABCA4_000149" "g.94520690C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94055134C>T" "" "pathogenic (recessive)" ""
"0000937792" "1" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000937793" "1" "90" "1" "94517216" "94517216" "subst" "0" "01251" "ABCA4_001429" "g.94517216G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94051660G>A" "" "pathogenic (recessive)" ""
"0000937794" "1" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000937795" "1" "90" "1" "94544877" "94544877" "subst" "0" "01251" "ABCA4_001477" "g.94544877C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94079321C>T" "" "pathogenic (recessive)" ""
"0000937796" "1" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01251" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic (recessive)" ""
"0000937797" "0" "70" "1" "94546265" "94546265" "subst" "2.04063E-5" "01251" "ABCA4_000355" "g.94546265G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94080709G>A" "" "likely pathogenic (recessive)" ""
"0000937798" "0" "50" "1" "94564462" "94564462" "subst" "4.06775E-5" "01251" "ABCA4_000380" "g.94564462C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94098906C>G" "" "VUS" ""
"0000937799" "1" "90" "1" "94509026" "94509026" "subst" "4.06497E-5" "01251" "ABCA4_000660" "g.94509026G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94043470G>A" "" "pathogenic (recessive)" ""
"0000937800" "1" "50" "1" "94508430" "94508430" "subst" "0" "01251" "ABCA4_002687" "g.94508430A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94042874A>G" "" "VUS" ""
"0000937801" "0" "90" "1" "94497588" "94497588" "subst" "4.153E-6" "01251" "ABCA4_000049" "g.94497588G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94032032G>A" "" "pathogenic (recessive)" ""
"0000937802" "1" "90" "1" "94496581" "94496581" "subst" "0" "01251" "ABCA4_000565" "g.94496581C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94031025C>T" "" "pathogenic (recessive)" ""
"0000937803" "0" "70" "1" "94487505" "94487505" "subst" "4.06349E-6" "01251" "ABCA4_000507" "g.94487505T>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94021949T>C" "" "likely pathogenic (recessive)" ""
"0000937804" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01251" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000937805" "1" "50" "1" "94522282" "94522282" "subst" "0" "01251" "ABCA4_002712" "g.94522282T>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94056726T>G" "" "VUS" ""
"0000937806" "0" "30" "1" "94564451" "94564451" "subst" "0.000150413" "01251" "ABCA4_000378" "g.94564451T>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94098895T>G" "" "likely benign" ""
"0000937807" "1" "90" "1" "94495078" "94495078" "subst" "8.37044E-6" "01251" "ABCA4_000042" "g.94495078A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94029522A>G" "" "pathogenic (recessive)" ""
"0000937808" "0" "90" "1" "94514477" "94514477" "del" "0" "01251" "ABCA4_001996" "g.94514477del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94048921del" "" "pathogenic (recessive)" ""
"0000937809" "0" "50" "1" "94486848" "94486848" "subst" "0" "01251" "ABCA4_002635" "g.94486848C>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94021292C>A" "" "VUS" ""
"0000937810" "0" "90" "1" "94508435" "94508436" "dup" "0" "01251" "ABCA4_000998" "g.94508435_94508436dup" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94042879_94042880dup" "" "pathogenic (recessive)" ""
"0000937811" "0" "90" "1" "94497564" "94497564" "subst" "1.64383E-5" "01251" "ABCA4_000091" "g.94497564G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94032008G>A" "" "pathogenic (recessive)" ""
"0000937812" "0" "90" "1" "94476351" "94476351" "subst" "0.000296608" "01251" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "pathogenic (recessive)" ""
"0000937813" "1" "90" "1" "94496547" "94496547" "subst" "1.21904E-5" "01251" "ABCA4_000559" "g.94496547C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94030991C>T" "" "pathogenic (recessive)" ""
"0000937814" "1" "90" "1" "94474381" "94474382" "dup" "0" "01251" "ABCA4_000409" "g.94474381_94474382dup" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94008825_94008826dup" "" "pathogenic (recessive)" ""
"0000937815" "0" "50" "1" "94497447" "94497470" "dup" "0" "01251" "ABCA4_001857" "g.94497447_94497470dup" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94031891_94031914dup" "" "VUS" ""
"0000937816" "3" "90" "1" "94546248" "94546248" "del" "2.03666E-5" "01251" "ABCA4_000352" "g.94546248del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94080692del" "" "pathogenic (recessive)" ""
"0000937817" "0" "90" "1" "94577117" "94577117" "subst" "1.62472E-5" "01251" "ABCA4_000237" "g.94577117G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94111561G>A" "" "pathogenic (recessive)" ""
"0000937818" "1" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01251" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "no variant 2nd chromosome" "Germline" "yes" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000937819" "0" "90" "1" "94496666" "94496666" "subst" "0.000219568" "01251" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "pathogenic (recessive)" ""
"0000937820" "1" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01251" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000937821" "1" "90" "1" "94526212" "94526212" "subst" "1.22012E-5" "01251" "ABCA4_000075" "g.94526212G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94060656G>A" "" "pathogenic (recessive)" ""
"0000937822" "1" "50" "1" "94487490" "94487490" "subst" "0.00122268" "01251" "ABCA4_000506" "g.94487490A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94021934A>G" "" "VUS" ""
"0000937823" "0" "90" "1" "94496666" "94496666" "subst" "0.000219568" "01251" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "pathogenic (recessive)" ""
"0000937824" "1" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01251" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000937825" "1" "90" "1" "94528819" "94528819" "subst" "2.03128E-5" "01251" "ABCA4_000078" "g.94528819G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94063263G>A" "" "pathogenic (recessive)" ""
"0000937826" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000937827" "0" "70" "1" "94476426" "94476426" "subst" "0" "01251" "ABCA4_000420" "g.94476426T>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94010870T>C" "" "likely pathogenic (recessive)" ""
"0000937828" "0" "50" "1" "94528770" "94528781" "del" "0" "01251" "ABCA4_002095" "g.94528770_94528781del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94063214_94063225del" "" "VUS" ""
"0000937829" "1" "90" "1" "94492937" "94492937" "subst" "0" "01251" "ABCA4_000529" "g.94492937G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94027381G>A" "" "pathogenic (recessive)" ""
"0000937830" "1" "50" "1" "94528668" "94528668" "subst" "0" "01251" "ABCA4_002724" "g.94528668C>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94063112C>A" "" "VUS" ""
"0000937831" "1" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01251" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000937832" "1" "70" "1" "94509018" "94509018" "subst" "8.12869E-6" "01251" "ABCA4_000659" "g.94509018C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94043462C>T" "" "likely pathogenic (recessive)" ""
"0000937833" "1" "90" "1" "94564484" "94564484" "subst" "0.000110199" "01251" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94098928G>A" "" "pathogenic (recessive)" ""
"0000937834" "1" "90" "1" "94564548" "94564548" "subst" "0" "01251" "ABCA4_000197" "g.94564548C>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94098992C>A" "" "pathogenic (recessive)" ""
"0000937835" "1" "90" "1" "94497392" "94497392" "subst" "0" "01251" "ABCA4_000577" "g.94497392G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94031836G>A" "" "pathogenic (recessive)" ""
"0000937836" "0" "90" "1" "94510248" "94510248" "subst" "0.000544123" "01251" "ABCA4_000107" "g.94510248C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94044692C>G" "" "pathogenic (recessive)" ""
"0000937837" "3" "90" "1" "94466559" "94466559" "subst" "0" "01251" "ABCA4_000833" "g.94466559T>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94001003T>C" "" "pathogenic (recessive)" ""
"0000937838" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000937839" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01251" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000937840" "0" "70" "1" "94508334" "94508334" "subst" "0" "01251" "ABCA4_001921" "g.94508334A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94042778A>G" "" "likely pathogenic (recessive)" ""
"0000937841" "1" "90" "1" "94520853" "94520853" "subst" "8.14783E-6" "01251" "ABCA4_000729" "g.94520853C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94055297C>T" "" "pathogenic (recessive)" ""
"0000937842" "0" "70" "1" "94520666" "94520872" "del" "0" "01251" "ABCA4_002707" "g.(94517255_94520666)_(94520872_94522156)del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.(94051699_94055110)_(94055316_94056600)del" "" "likely pathogenic (recessive)" ""
"0000937843" "1" "90" "1" "94508435" "94508436" "dup" "0" "01251" "ABCA4_000998" "g.94508435_94508436dup" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94042879_94042880dup" "" "pathogenic (recessive)" ""
"0000937844" "3" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01251" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000937845" "0" "90" "1" "94528167" "94528167" "subst" "0" "01251" "ABCA4_000268" "g.94528167G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94062611G>A" "" "pathogenic (recessive)" ""
"0000937846" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000937847" "0" "90" "1" "94496666" "94496666" "subst" "0.000219568" "01251" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "pathogenic (recessive)" ""
"0000937848" "1" "70" "1" "94506959" "94506959" "subst" "8.12321E-6" "01251" "ABCA4_001078" "g.94506959C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94041403C>T" "" "likely pathogenic (recessive)" ""
"0000937849" "0" "50" "1" "94544906" "94544906" "subst" "0" "01251" "ABCA4_002739" "g.94544906G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94079350G>A" "" "VUS" ""
"0000937850" "0" "50" "1" "94473851" "94473863" "del" "0" "01251" "ABCA4_002613" "g.94473851_94473863del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94008295_94008307del" "" "VUS" ""
"0000937851" "1" "50" "1" "94508368" "94508368" "subst" "0" "01251" "ABCA4_002684" "g.94508368C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94042812C>G" "" "VUS" ""
"0000937852" "1" "70" "1" "94564408" "94564408" "subst" "4.06128E-6" "01251" "ABCA4_001066" "g.94564408A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94098852A>G" "" "likely pathogenic (recessive)" ""
"0000937853" "1" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01251" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000937854" "0" "90" "1" "94526296" "94526296" "subst" "1.64555E-5" "01251" "ABCA4_000768" "g.94526296G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94060740G>A" "" "pathogenic (recessive)" ""
"0000937855" "0" "90" "1" "94496666" "94496666" "subst" "0.000219568" "01251" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "pathogenic (recessive)" ""
"0000937856" "1" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01251" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000937857" "3" "90" "1" "94486794" "94486794" "subst" "0" "01251" "ABCA4_000478" "g.94486794A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94021238A>G" "" "pathogenic (recessive)" ""
"0000937858" "0" "50" "1" "94517192" "94517192" "subst" "0" "01251" "ABCA4_002705" "g.94517192C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94051636C>T" "" "VUS" ""
"0000937859" "1" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "no variant 2nd chromosome" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000937860" "0" "90" "1" "94467467" "94467467" "subst" "4.06164E-6" "01251" "ABCA4_000780" "g.94467467G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94001911G>A" "" "pathogenic (recessive)" ""
"0000937861" "1" "90" "1" "94574257" "94574257" "subst" "0" "01251" "ABCA4_000218" "g.94574257A>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94108701A>C" "" "pathogenic (recessive)" ""
"0000937862" "1" "90" "1" "94528780" "94528780" "subst" "0" "01251" "ABCA4_002097" "g.94528780C>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94063224C>A" "" "pathogenic (recessive)" ""
"0000937863" "1" "90" "1" "94564432" "94564432" "subst" "0" "01251" "ABCA4_001029" "g.94564432A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94098876A>G" "" "pathogenic (recessive)" ""
"0000937864" "3" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01251" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94062710G>A" "" "pathogenic (recessive)" ""
"0000937865" "3" "90" "1" "94546118" "94546118" "subst" "8.13326E-6" "01251" "ABCA4_000082" "g.94546118A>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94080562A>C" "" "pathogenic (recessive)" ""
"0000937866" "0" "90" "1" "94467460" "94467461" "del" "0" "01251" "ABCA4_000778" "g.94467460_94467461del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94001904_94001905del" "" "pathogenic (recessive)" ""
"0000937867" "0" "90" "1" "94506764" "94506764" "subst" "0" "01251" "ABCA4_001173" "g.94506764C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94041208C>T" "" "pathogenic (recessive)" ""
"0000937868" "3" "90" "1" "94526212" "94526212" "subst" "1.22012E-5" "01251" "ABCA4_000075" "g.94526212G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94060656G>A" "" "pathogenic (recessive)" ""
"0000937869" "3" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01251" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000937870" "0" "90" "1" "94495083" "94495083" "subst" "0.000124542" "01251" "ABCA4_000542" "g.94495083G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94029527G>A" "" "pathogenic (recessive)" ""
"0000937871" "1" "90" "1" "94528714" "94528714" "subst" "0" "01251" "ABCA4_000296" "g.94528714G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94063158G>A" "" "pathogenic (recessive)" ""
"0000937872" "3" "50" "1" "94461656" "94461673" "del" "0" "01251" "ABCA4_002596" "g.94461656_94461673del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.93996100_93996117del" "" "VUS" ""
"0000937873" "0" "90" "1" "94510253" "94510253" "subst" "0.000247694" "01251" "ABCA4_000108" "g.94510253A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94044697A>G" "" "pathogenic (recessive)" ""
"0000937874" "0" "90" "1" "94508435" "94508436" "dup" "0" "01251" "ABCA4_000998" "g.94508435_94508436dup" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94042879_94042880dup" "" "pathogenic (recessive)" ""
"0000937875" "1" "50" "1" "94502899" "94502899" "del" "0" "01251" "ABCA4_000920" "g.94502899del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94037343del" "" "VUS" ""
"0000937876" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01251" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000937877" "0" "90" "1" "94528251" "94528251" "subst" "0" "01251" "ABCA4_000077" "g.94528251C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94062695C>G" "" "pathogenic (recessive)" ""
"0000937878" "0" "90" "1" "94564484" "94564484" "subst" "0.000110199" "01251" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94098928G>A" "" "pathogenic (recessive)" ""
"0000937879" "3" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000937880" "3" "90" "1" "94496571" "94496571" "subst" "4.06174E-6" "01251" "ABCA4_000111" "g.94496571G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94031015G>A" "" "pathogenic (recessive)" ""
"0000937881" "0" "90" "1" "94564383" "94564383" "subst" "0" "01251" "ABCA4_000371" "g.94564383A>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94098827A>C" "" "pathogenic (recessive)" ""
"0000937882" "1" "90" "1" "94526230" "94526230" "subst" "7.32136E-5" "01251" "ABCA4_000760" "g.94526230C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94060674C>T" "" "pathogenic (recessive)" ""
"0000937883" "0" "50" "1" "94490511" "94490511" "subst" "0" "01251" "ABCA4_001058" "g.94490511T>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94024955T>C" "" "VUS" ""
"0000937884" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000937885" "0" "90" "1" "94544895" "94544895" "subst" "1.62455E-5" "01251" "ABCA4_000329" "g.94544895G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94079339G>A" "" "pathogenic (recessive)" ""
"0000937886" "0" "90" "1" "94564484" "94564484" "subst" "0.000110199" "01251" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94098928G>A" "" "pathogenic (recessive)" ""
"0000937887" "3" "90" "1" "94485162" "94485162" "subst" "0" "01251" "ABCA4_001419" "g.94485162C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94019606C>T" "" "pathogenic (recessive)" ""
"0000937888" "1" "90" "1" "94509026" "94509026" "subst" "4.06497E-5" "01251" "ABCA4_000660" "g.94509026G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94043470G>A" "" "pathogenic (recessive)" ""
"0000937889" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000937890" "1" "90" "1" "94546047" "94546047" "subst" "0" "01251" "ABCA4_000150" "g.94546047A>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94080491A>T" "" "pathogenic (recessive)" ""
"0000937891" "0" "90" "1" "94577117" "94577117" "subst" "1.62472E-5" "01251" "ABCA4_000237" "g.94577117G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94111561G>A" "" "pathogenic (recessive)" ""
"0000937892" "1" "70" "1" "94506959" "94506959" "subst" "8.12321E-6" "01251" "ABCA4_001078" "g.94506959C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94041403C>T" "" "likely pathogenic (recessive)" ""
"0000937893" "1" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01251" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000937894" "1" "90" "1" "94522239" "94522239" "subst" "2.03305E-5" "01251" "ABCA4_000736" "g.94522239A>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94056683A>T" "" "pathogenic (recessive)" ""
"0000937895" "0" "90" "1" "94495983" "94495983" "subst" "8.12348E-6" "01251" "ABCA4_000547" "g.94495983C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94030427C>T" "" "pathogenic (recessive)" ""
"0000937896" "1" "90" "1" "94528806" "94528806" "subst" "0.000150298" "01251" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94063250A>G" "" "pathogenic (recessive)" ""
"0000937897" "0" "90" "1" "94526230" "94526230" "subst" "7.32136E-5" "01251" "ABCA4_000760" "g.94526230C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94060674C>T" "" "pathogenic (recessive)" ""
"0000937898" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01251" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000937899" "1" "90" "1" "94510248" "94510248" "subst" "0.000544123" "01251" "ABCA4_000107" "g.94510248C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "no variant 2nd chromosome" "Germline" "yes" "" "0" "" "" "g.94044692C>G" "" "pathogenic (recessive)" ""
"0000937900" "3" "90" "1" "94471056" "94471056" "subst" "2.84398E-5" "01251" "ABCA4_000050" "g.94471056G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94005500G>A" "" "pathogenic (recessive)" ""
"0000937901" "1" "90" "1" "94512611" "94512611" "dup" "0" "01251" "ABCA4_001060" "g.94512611dup" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94047055dup" "" "pathogenic (recessive)" ""
"0000937902" "0" "90" "1" "94528714" "94528714" "subst" "0" "01251" "ABCA4_000296" "g.94528714G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94063158G>A" "" "pathogenic (recessive)" ""
"0000937903" "3" "90" "1" "94526154" "94526154" "subst" "4.06441E-6" "01251" "ABCA4_000752" "g.94526154C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94060598C>T" "" "pathogenic (recessive)" ""
"0000937904" "1" "90" "1" "94546047" "94546047" "subst" "0" "01251" "ABCA4_000150" "g.94546047A>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94080491A>T" "" "pathogenic (recessive)" ""
"0000937905" "1" "90" "1" "94473266" "94473266" "subst" "8.14677E-6" "01251" "ABCA4_000389" "g.94473266C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94007710C>T" "" "pathogenic (recessive)" ""
"0000937906" "0" "90" "1" "94544895" "94544895" "subst" "1.62455E-5" "01251" "ABCA4_000329" "g.94544895G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94079339G>A" "" "pathogenic (recessive)" ""
"0000937907" "0" "90" "1" "94520665" "94520665" "subst" "0" "01251" "ABCA4_000707" "g.94520665A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94055109A>G" "" "pathogenic (recessive)" ""
"0000937908" "1" "70" "1" "94502346" "94502346" "subst" "0" "01251" "ABCA4_000593" "g.94502346T>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94036790T>C" "" "likely pathogenic (recessive)" ""
"0000937909" "0" "50" "1" "94564447" "94564447" "subst" "5.69013E-5" "01251" "ABCA4_000985" "g.94564447G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94098891G>A" "" "VUS" ""
"0000937910" "0" "90" "1" "94510248" "94510248" "subst" "0.000544123" "01251" "ABCA4_000107" "g.94510248C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94044692C>G" "" "pathogenic (recessive)" ""
"0000937911" "1" "50" "1" "94506803" "94506803" "del" "0" "01251" "ABCA4_002679" "g.94506803del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94041247del" "" "VUS" ""
"0000937912" "1" "50" "1" "94568565" "94568571" "del" "0" "01251" "ABCA4_002750" "g.94568565_94568571del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94103009_94103015del" "" "VUS" ""
"0000937913" "3" "90" "1" "94564549" "94564549" "subst" "0" "01251" "ABCA4_000198" "g.94564549T>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94098993T>C" "" "pathogenic (recessive)" ""
"0000937914" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01251" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000937915" "1" "50" "1" "94476486" "94476486" "subst" "0" "01251" "ABCA4_002621" "g.94476486C>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94010930C>A" "" "VUS" ""
"0000937916" "1" "90" "1" "94486895" "94486895" "subst" "3.24923E-5" "01251" "ABCA4_000484" "g.94486895C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94021339C>T" "" "pathogenic (recessive)" ""
"0000937917" "0" "90" "1" "94508997" "94508997" "subst" "0" "01251" "ABCA4_000112" "g.94508997G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94043441G>A" "" "pathogenic (recessive)" ""
"0000937918" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01251" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000937919" "0" "50" "1" "94485320" "94485320" "subst" "0" "01251" "ABCA4_002633" "g.94485320A>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94019764A>T" "" "VUS" ""
"0000937920" "1" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01251" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000937921" "0" "90" "1" "94522367" "94522370" "dup" "0" "01251" "ABCA4_002050" "g.94522367_94522370dup" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94056811_94056814dup" "" "pathogenic (recessive)" ""
"0000937922" "0" "90" "1" "94486895" "94486895" "subst" "3.24923E-5" "01251" "ABCA4_000484" "g.94486895C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94021339C>T" "" "pathogenic (recessive)" ""
"0000937923" "1" "90" "1" "94564463" "94564463" "subst" "0" "01251" "ABCA4_000381" "g.94564463T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94098907T>A" "" "pathogenic (recessive)" ""
"0000937924" "1" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01251" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000937925" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01251" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000937926" "3" "90" "1" "94473801" "94473801" "del" "0" "01251" "ABCA4_000402" "g.94473801del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94008245del" "" "pathogenic (recessive)" ""
"0000937927" "1" "90" "1" "94546118" "94546118" "subst" "8.13326E-6" "01251" "ABCA4_000082" "g.94546118A>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94080562A>C" "" "pathogenic (recessive)" ""
"0000937928" "0" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01251" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic (recessive)" ""
"0000937929" "0" "90" "1" "94510248" "94510248" "subst" "0.000544123" "01251" "ABCA4_000107" "g.94510248C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94044692C>G" "" "pathogenic (recessive)" ""
"0000937930" "1" "50" "1" "94506956" "94506956" "subst" "0" "01251" "ABCA4_002682" "g.94506956T>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94041400T>C" "" "VUS" ""
"0000937931" "0" "90" "1" "94564484" "94564484" "subst" "0.000110199" "01251" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94098928G>A" "" "pathogenic (recessive)" ""
"0000937932" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01251" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94062710G>A" "" "pathogenic (recessive)" ""
"0000937933" "1" "90" "1" "94496666" "94496666" "subst" "0.000219568" "01251" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94031110G>A" "" "pathogenic (recessive)" ""
"0000937934" "1" "50" "1" "94577103" "94577103" "subst" "0" "01251" "ABCA4_002755" "g.94577103C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94111547C>T" "" "VUS" ""
"0000937935" "0" "90" "1" "94476351" "94476351" "subst" "0.000296608" "01251" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "pathogenic (recessive)" ""
"0000937936" "0" "90" "1" "94487251" "94487251" "subst" "2.85679E-5" "01251" "ABCA4_000490" "g.94487251G>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94021695G>T" "" "pathogenic (recessive)" ""
"0000937937" "0" "50" "1" "94517225" "94517225" "subst" "0" "01251" "ABCA4_002002" "g.94517225A>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94051669A>T" "" "VUS" ""
"0000937938" "3" "70" "1" "94512602" "94512602" "subst" "0.000369717" "01251" "ABCA4_000052" "g.94512602C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94047046C>T" "" "likely pathogenic (recessive)" ""
"0000937939" "1" "90" "1" "94528806" "94528806" "subst" "0.000150298" "01251" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94063250A>G" "" "pathogenic (recessive)" ""
"0000937940" "1" "90" "1" "94586570" "94586570" "subst" "4.06101E-6" "01251" "ABCA4_000154" "g.94586570A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94121014A>G" "" "pathogenic (recessive)" ""
"0000937941" "1" "70" "1" "94509018" "94509018" "subst" "8.12869E-6" "01251" "ABCA4_000659" "g.94509018C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94043462C>T" "" "likely pathogenic (recessive)" ""
"0000937942" "0" "90" "1" "94496666" "94496666" "subst" "0.000219568" "01251" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "pathogenic (recessive)" ""
"0000937943" "0" "50" "1" "94485265" "94485265" "subst" "0" "01251" "ABCA4_002631" "g.94485265A>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94019709A>C" "" "VUS" ""
"0000937944" "0" "50" "1" "94548912" "94548912" "del" "0" "01251" "ABCA4_002745" "g.94548912del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94083356del" "" "VUS" ""
"0000937945" "1" "90" "1" "94546098" "94546111" "del" "0" "01251" "ABCA4_000022" "g.94546098_94546111del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94080542_94080555del" "" "pathogenic (recessive)" ""
"0000937946" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01251" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000937947" "0" "90" "1" "94496548" "94496548" "subst" "2.43787E-5" "01251" "ABCA4_000088" "g.94496548G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94030992G>A" "" "pathogenic (recessive)" ""
"0000937948" "1" "90" "1" "94526296" "94526296" "subst" "1.64555E-5" "01251" "ABCA4_000768" "g.94526296G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94060740G>A" "" "pathogenic (recessive)" ""
"0000937949" "0" "70" "1" "94528218" "94528218" "subst" "0" "01251" "ABCA4_000273" "g.94528218C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94062662C>T" "" "likely pathogenic (recessive)" ""
"0000937950" "0" "90" "1" "94492937" "94492937" "subst" "0" "01251" "ABCA4_000529" "g.94492937G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94027381G>A" "" "pathogenic (recessive)" ""
"0000937951" "1" "90" "1" "94577102" "94577102" "subst" "4.06161E-6" "01251" "ABCA4_000033" "g.94577102C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94111546C>T" "" "pathogenic (recessive)" ""
"0000937952" "1" "70" "1" "94543281" "94543281" "subst" "4.0661E-6" "01251" "ABCA4_000309" "g.94543281C>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94077725C>A" "" "likely pathogenic (recessive)" ""
"0000937953" "1" "90" "1" "94564442" "94564454" "del" "0" "01251" "ABCA4_000377" "g.94564442_94564454del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94098886_94098898del" "" "pathogenic (recessive)" ""
"0000937954" "1" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01251" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000937955" "1" "70" "1" "94508334" "94508334" "subst" "0" "01251" "ABCA4_001921" "g.94508334A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94042778A>G" "" "likely pathogenic (recessive)" ""
"0000937956" "1" "70" "1" "94517233" "94517233" "subst" "4.06161E-6" "01251" "ABCA4_000706" "g.94517233G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94051677G>A" "" "likely pathogenic (recessive)" ""
"0000937957" "1" "90" "1" "94544877" "94544877" "subst" "0" "01251" "ABCA4_001477" "g.94544877C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94079321C>T" "" "pathogenic (recessive)" ""
"0000937958" "0" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01251" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic (recessive)" ""
"0000937959" "1" "90" "1" "94508435" "94508436" "dup" "0" "01251" "ABCA4_000998" "g.94508435_94508436dup" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94042879_94042880dup" "" "pathogenic (recessive)" ""
"0000937960" "0" "90" "1" "94528251" "94528251" "subst" "0" "01251" "ABCA4_000077" "g.94528251C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94062695C>G" "" "pathogenic (recessive)" ""
"0000937961" "0" "90" "1" "94474381" "94474382" "dup" "0" "01251" "ABCA4_000409" "g.94474381_94474382dup" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94008825_94008826dup" "" "pathogenic (recessive)" ""
"0000937962" "0" "90" "1" "94510253" "94510253" "subst" "0.000247694" "01251" "ABCA4_000108" "g.94510253A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94044697A>G" "" "pathogenic (recessive)" ""
"0000937963" "0" "90" "1" "94546118" "94546118" "subst" "8.13326E-6" "01251" "ABCA4_000082" "g.94546118A>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94080562A>C" "" "pathogenic (recessive)" ""
"0000937964" "0" "90" "1" "94512499" "94512499" "subst" "0.000130029" "01251" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94046943T>C" "" "pathogenic (recessive)" ""
"0000937965" "1" "50" "1" "94502701" "94502701" "subst" "0" "01251" "ABCA4_001871" "g.94502701C>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "no variant 2nd chromosome" "Germline" "yes" "" "0" "" "" "g.94037145C>A" "" "VUS" ""
"0000937966" "1" "90" "1" "94528132" "94528132" "subst" "4.06835E-6" "01251" "ABCA4_000773" "g.94528132C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94062576C>T" "" "pathogenic (recessive)" ""
"0000937967" "3" "90" "1" "94487251" "94487251" "subst" "2.85679E-5" "01251" "ABCA4_000490" "g.94487251G>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94021695G>T" "" "pathogenic (recessive)" ""
"0000937968" "3" "90" "1" "94502706" "94502706" "subst" "0" "01251" "ABCA4_000597" "g.94502706C>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94037150C>A" "" "pathogenic (recessive)" ""
"0000937969" "1" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01251" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000937970" "0" "90" "1" "94496666" "94496666" "subst" "0.000219568" "01251" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "pathogenic (recessive)" ""
"0000937971" "1" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01251" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000937972" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01251" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000937973" "0" "90" "1" "94486895" "94486895" "subst" "3.24923E-5" "01251" "ABCA4_000484" "g.94486895C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94021339C>T" "" "pathogenic (recessive)" ""
"0000937974" "0" "50" "1" "94508373" "94508373" "subst" "0" "01251" "ABCA4_002685" "g.94508373C>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94042817C>A" "" "VUS" ""
"0000937975" "3" "90" "1" "94473278" "94473278" "del" "3.25908E-5" "01251" "ABCA4_000392" "g.94473278del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94007722del" "" "pathogenic (recessive)" ""
"0000937976" "0" "50" "1" "94476428" "94476428" "subst" "7.71699E-5" "01251" "ABCA4_000422" "g.94476428G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94010872G>A" "" "VUS" ""
"0000937977" "0" "90" "1" "94495083" "94495083" "subst" "0.000124542" "01251" "ABCA4_000542" "g.94495083G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94029527G>A" "" "pathogenic (recessive)" ""
"0000937978" "3" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01251" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000937979" "1" "90" "1" "94528806" "94528806" "subst" "0.000150298" "01251" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94063250A>G" "" "pathogenic (recessive)" ""
"0000937980" "3" "70" "1" "94466658" "94466658" "subst" "8.14817E-6" "01251" "ABCA4_000132" "g.94466658C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94001102C>T" "" "likely pathogenic (recessive)" ""
"0000937981" "3" "90" "1" "94497392" "94497392" "subst" "0" "01251" "ABCA4_000577" "g.94497392G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94031836G>A" "" "pathogenic (recessive)" ""
"0000937982" "1" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01251" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94062710G>A" "" "pathogenic (recessive)" ""
"0000937983" "1" "90" "1" "94564383" "94564383" "subst" "0" "01251" "ABCA4_000371" "g.94564383A>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94098827A>C" "" "pathogenic (recessive)" ""
"0000937984" "0" "90" "1" "94508435" "94508436" "dup" "0" "01251" "ABCA4_000998" "g.94508435_94508436dup" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94042879_94042880dup" "" "pathogenic (recessive)" ""
"0000937985" "0" "90" "1" "94528251" "94528251" "subst" "0" "01251" "ABCA4_000077" "g.94528251C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94062695C>G" "" "pathogenic (recessive)" ""
"0000937986" "0" "90" "1" "94512499" "94512499" "subst" "0.000130029" "01251" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94046943T>C" "" "pathogenic (recessive)" ""
"0000937987" "1" "90" "1" "94528806" "94528806" "subst" "0.000150298" "01251" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94063250A>G" "" "pathogenic (recessive)" ""
"0000937988" "0" "50" "1" "94496509" "94496509" "subst" "0.00475243" "01251" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94030953C>T" "" "VUS" ""
"0000937989" "1" "90" "1" "94476351" "94476351" "subst" "0.000296608" "01251" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94010795C>T" "" "pathogenic (recessive)" ""
"0000937990" "0" "50" "1" "94512515" "94512515" "subst" "4.06342E-6" "01251" "ABCA4_002698" "g.94512515C>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94046959C>A" "" "VUS" ""
"0000937991" "0" "70" "1" "94517233" "94517233" "subst" "4.06161E-6" "01251" "ABCA4_000706" "g.94517233G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94051677G>A" "" "likely pathogenic (recessive)" ""
"0000937992" "1" "70" "1" "94476853" "94476853" "subst" "4.06243E-6" "01251" "ABCA4_000429" "g.94476853A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94011297A>G" "" "likely pathogenic (recessive)" ""
"0000937993" "0" "50" "1" "94486848" "94486848" "subst" "0" "01251" "ABCA4_002635" "g.94486848C>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94021292C>A" "" "VUS" ""
"0000937994" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000937995" "1" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01251" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94062710G>A" "" "pathogenic (recessive)" ""
"0000937996" "0" "50" "1" "94543319" "94543319" "subst" "0" "01251" "ABCA4_002733" "g.94543319A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94077763A>G" "" "VUS" ""
"0000937997" "0" "90" "1" "94497495" "94497495" "del" "0" "01251" "ABCA4_000584" "g.94497495del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94031939del" "" "pathogenic (recessive)" ""
"0000937998" "1" "90" "1" "94564484" "94564484" "subst" "0.000110199" "01251" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94098928G>A" "" "pathogenic (recessive)" ""
"0000937999" "1" "50" "1" "94564349" "94564548" "del" "0" "01251" "ABCA4_002747" "g.(94548998_94564349)_(94564548_94568570)del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.(94083442_94098793)_(94098992_94103014)del" "" "VUS" ""
"0000938000" "1" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01251" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000938001" "0" "50" "1" "94526130" "94526130" "subst" "0" "01251" "ABCA4_002715" "g.94526130A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94060574A>G" "" "VUS" ""
"0000938002" "0" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01251" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic (recessive)" ""
"0000938003" "0" "90" "1" "94522239" "94522239" "subst" "2.03305E-5" "01251" "ABCA4_000736" "g.94522239A>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94056683A>T" "" "pathogenic (recessive)" ""
"0000938004" "1" "50" "1" "94476451" "94476451" "del" "0" "01251" "ABCA4_002619" "g.94476451del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94010895del" "" "VUS" ""
"0000938005" "0" "90" "1" "94486895" "94486895" "subst" "3.24923E-5" "01251" "ABCA4_000484" "g.94486895C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94021339C>T" "" "pathogenic (recessive)" ""
"0000938006" "1" "90" "1" "94520690" "94520690" "subst" "2.03102E-5" "01251" "ABCA4_000149" "g.94520690C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94055134C>T" "" "pathogenic (recessive)" ""
"0000938007" "0" "50" "1" "94485269" "94485269" "subst" "0" "01251" "ABCA4_000146" "g.94485269A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94019713A>G" "" "VUS" ""
"0000938008" "1" "90" "1" "94510248" "94510248" "subst" "0.000544123" "01251" "ABCA4_000107" "g.94510248C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94044692C>G" "" "pathogenic (recessive)" ""
"0000938009" "0" "90" "1" "94486895" "94486895" "subst" "3.24923E-5" "01251" "ABCA4_000484" "g.94486895C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94021339C>T" "" "pathogenic (recessive)" ""
"0000938010" "0" "90" "1" "94546118" "94546118" "subst" "8.13326E-6" "01251" "ABCA4_000082" "g.94546118A>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94080562A>C" "" "pathogenic (recessive)" ""
"0000938011" "1" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01251" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000938012" "0" "90" "1" "94496666" "94496666" "subst" "0.000219568" "01251" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "pathogenic (recessive)" ""
"0000938013" "1" "70" "1" "94578529" "94578529" "subst" "0" "01251" "ABCA4_000245" "g.94578529A>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94112973A>C" "" "likely pathogenic (recessive)" ""
"0000938014" "1" "90" "1" "94496666" "94496666" "subst" "0.000219568" "01251" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94031110G>A" "" "pathogenic (recessive)" ""
"0000938015" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000938016" "0" "50" "1" "94543241" "94543241" "subst" "4.10573E-6" "01251" "ABCA4_002729" "g.94543241C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94077685C>T" "" "VUS" ""
"0000938017" "1" "90" "1" "94510248" "94510248" "subst" "0.000544123" "01251" "ABCA4_000107" "g.94510248C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94044692C>G" "" "pathogenic (recessive)" ""
"0000938018" "1" "90" "1" "94544895" "94544895" "subst" "1.62455E-5" "01251" "ABCA4_000329" "g.94544895G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94079339G>A" "" "pathogenic (recessive)" ""
"0000938019" "0" "50" "1" "94512484" "94512484" "subst" "0" "01251" "ABCA4_000680" "g.94512484G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94046928G>A" "" "VUS" ""
"0000938020" "0" "50" "1" "94526188" "94526188" "subst" "0" "01251" "ABCA4_002717" "g.94526188G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "De novo" "" "" "0" "" "" "g.94060632G>A" "" "VUS" ""
"0000938021" "1" "90" "1" "94512626" "94512626" "del" "0" "01251" "ABCA4_001990" "g.94512626del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94047070del" "" "pathogenic (recessive)" ""
"0000938022" "1" "50" "1" "94568689" "94568689" "subst" "0" "01251" "ABCA4_001023" "g.94568689A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94103133A>G" "" "VUS" ""
"0000938023" "0" "90" "1" "94577093" "94577093" "subst" "8.12394E-6" "01251" "ABCA4_000147" "g.94577093G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94111537G>A" "" "pathogenic (recessive)" ""
"0000938024" "1" "90" "1" "94512499" "94512499" "subst" "0.000130029" "01251" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94046943T>C" "" "pathogenic (recessive)" ""
"0000938025" "0" "50" "1" "94564441" "94564441" "subst" "0.000203171" "01251" "ABCA4_001513" "g.94564441C>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94098885C>A" "" "VUS" ""
"0000938026" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01251" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94062710G>A" "" "pathogenic (recessive)" ""
"0000938027" "1" "90" "1" "94564484" "94564484" "subst" "0.000110199" "01251" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94098928G>A" "" "pathogenic (recessive)" ""
"0000938028" "1" "50" "1" "94486808" "94486808" "subst" "0" "01251" "ABCA4_002634" "g.94486808G>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94021252G>C" "" "VUS" ""
"0000938029" "0" "70" "1" "94466624" "94466624" "subst" "0.0014345" "01251" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94001068C>T" "" "likely pathogenic (recessive)" ""
"0000938030" "1" "90" "1" "94508435" "94508436" "dup" "0" "01251" "ABCA4_000998" "g.94508435_94508436dup" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94042879_94042880dup" "" "pathogenic (recessive)" ""
"0000938031" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01251" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000938032" "1" "90" "1" "94546116" "94546116" "subst" "0" "01251" "ABCA4_001319" "g.94546116C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94080560C>T" "" "pathogenic (recessive)" ""
"0000938033" "0" "90" "1" "94496666" "94496666" "subst" "0.000219568" "01251" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "pathogenic (recessive)" ""
"0000938034" "1" "50" "1" "94544913" "94544913" "subst" "4.06134E-6" "01251" "ABCA4_002270" "g.94544913G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94079357G>A" "" "VUS" ""
"0000938035" "1" "50" "1" "94528770" "94528781" "del" "0" "01251" "ABCA4_002095" "g.94528770_94528781del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94063214_94063225del" "" "VUS" ""
"0000938036" "0" "50" "1" "94543319" "94543319" "subst" "0" "01251" "ABCA4_002733" "g.94543319A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94077763A>G" "" "VUS" ""
"0000938037" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01251" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000938038" "1" "90" "1" "94546118" "94546118" "subst" "8.13326E-6" "01251" "ABCA4_000082" "g.94546118A>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94080562A>C" "" "pathogenic (recessive)" ""
"0000938039" "1" "70" "1" "94528679" "94528679" "subst" "2.84368E-5" "01251" "ABCA4_000292" "g.94528679C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94063123C>G" "" "likely pathogenic (recessive)" ""
"0000938040" "0" "90" "1" "94510253" "94510253" "subst" "0.000247694" "01251" "ABCA4_000108" "g.94510253A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94044697A>G" "" "pathogenic (recessive)" ""
"0000938041" "0" "90" "1" "94486896" "94486896" "subst" "3.65562E-5" "01251" "ABCA4_000085" "g.94486896G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94021340G>A" "" "pathogenic (recessive)" ""
"0000938042" "0" "90" "1" "94544895" "94544895" "subst" "1.62455E-5" "01251" "ABCA4_000329" "g.94544895G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94079339G>A" "" "pathogenic (recessive)" ""
"0000938043" "0" "50" "1" "94543319" "94543319" "subst" "0" "01251" "ABCA4_002733" "g.94543319A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94077763A>G" "" "VUS" ""
"0000938044" "1" "90" "1" "94564383" "94564383" "subst" "0" "01251" "ABCA4_000371" "g.94564383A>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94098827A>C" "" "pathogenic (recessive)" ""
"0000938045" "1" "90" "1" "94480248" "94480248" "del" "0" "01251" "ABCA4_001056" "g.94480248del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94014692del" "" "pathogenic (recessive)" ""
"0000938046" "3" "50" "1" "94473290" "94473290" "subst" "0" "01251" "ABCA4_002611" "g.94473290C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94007734C>T" "" "VUS" ""
"0000938047" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01251" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000938048" "0" "90" "1" "94471056" "94471056" "subst" "2.84398E-5" "01251" "ABCA4_000050" "g.94471056G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94005500G>A" "" "pathogenic (recessive)" ""
"0000938049" "0" "90" "1" "94476351" "94476351" "subst" "0.000296608" "01251" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "pathogenic (recessive)" ""
"0000938050" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000938051" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000938052" "2" "90" "1" "94480178" "94480178" "subst" "2.43692E-5" "01251" "ABCA4_000005" "g.94480178G>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94014622G>T" "" "pathogenic (recessive)" ""
"0000938053" "0" "90" "1" "94473278" "94473278" "del" "3.25908E-5" "01251" "ABCA4_000392" "g.94473278del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94007722del" "" "pathogenic (recessive)" ""
"0000938054" "0" "90" "1" "94463488" "94463488" "subst" "5.2803E-5" "01251" "ABCA4_000802" "g.94463488G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.93997932G>A" "" "pathogenic (recessive)" ""
"0000938055" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000938056" "1" "90" "1" "94485279" "94485293" "del" "0" "01251" "ABCA4_000476" "g.94485279_94485293del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94019723_94019737del" "" "pathogenic (recessive)" ""
"0000938057" "2" "90" "1" "94473266" "94473266" "subst" "8.14677E-6" "01251" "ABCA4_000389" "g.94473266C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94007710C>T" "" "pathogenic (recessive)" ""
"0000938058" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000938059" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000938060" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000938061" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000938062" "0" "90" "1" "94471065" "94471065" "subst" "0.000194997" "01251" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94005509G>A" "" "pathogenic (recessive)" ""
"0000938063" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01251" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000938064" "0" "90" "1" "94495983" "94495983" "subst" "8.12348E-6" "01251" "ABCA4_000547" "g.94495983C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94030427C>T" "" "pathogenic (recessive)" ""
"0000938065" "0" "50" "1" "94502773" "94502780" "del" "0" "01251" "ABCA4_002672" "g.94502773_94502780del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94037217_94037224del" "" "VUS" ""
"0000938066" "0" "90" "1" "94492937" "94492937" "subst" "0" "01251" "ABCA4_000529" "g.94492937G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94027381G>A" "" "pathogenic (recessive)" ""
"0000938067" "2" "90" "1" "94473278" "94473278" "del" "3.25908E-5" "01251" "ABCA4_000392" "g.94473278del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94007722del" "" "pathogenic (recessive)" ""
"0000938068" "0" "90" "1" "94471065" "94471065" "subst" "0.000194997" "01251" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94005509G>A" "" "pathogenic (recessive)" ""
"0000938069" "0" "50" "1" "94487413" "94487425" "del" "0" "01251" "ABCA4_002644" "g.94487413_94487425del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94021857_94021869del" "" "VUS" ""
"0000938070" "1" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01251" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic (recessive)" ""
"0000938071" "2" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01251" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000938072" "2" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01251" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000938073" "2" "70" "1" "94466618" "94466618" "subst" "0" "01251" "ABCA4_001415" "g.94466618A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94001062A>G" "" "likely pathogenic (recessive)" ""
"0000938074" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01251" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000938075" "1" "90" "1" "94485279" "94485293" "del" "0" "01251" "ABCA4_000476" "g.94485279_94485293del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94019723_94019737del" "" "pathogenic (recessive)" ""
"0000938076" "2" "90" "1" "94476351" "94476351" "subst" "0.000296608" "01251" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94010795C>T" "" "pathogenic (recessive)" ""
"0000938077" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01251" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000938078" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000938079" "1" "90" "1" "94485279" "94485293" "del" "0" "01251" "ABCA4_000476" "g.94485279_94485293del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94019723_94019737del" "" "pathogenic (recessive)" ""
"0000938080" "2" "90" "1" "94476351" "94476351" "subst" "0.000296608" "01251" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94010795C>T" "" "pathogenic (recessive)" ""
"0000938081" "2" "50" "1" "94495011" "94495011" "subst" "6.36472E-6" "01251" "ABCA4_002660" "g.94495011G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94029455G>A" "" "VUS" ""
"0000938082" "2" "50" "1" "94471104" "94471104" "subst" "0" "01251" "ABCA4_002607" "g.94471104T>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94005548T>C" "" "VUS" ""
"0000938083" "0" "70" "1" "94466624" "94466624" "subst" "0.0014345" "01251" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94001068C>T" "" "likely pathogenic (recessive)" ""
"0000938084" "2" "70" "1" "94506935" "94506935" "subst" "4.06098E-6" "01251" "ABCA4_000626" "g.94506935G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94041379G>A" "" "likely pathogenic (recessive)" ""
"0000938085" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000938086" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000938087" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000938088" "0" "90" "1" "94496548" "94496548" "subst" "2.43787E-5" "01251" "ABCA4_000088" "g.94496548G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94030992G>A" "" "pathogenic (recessive)" ""
"0000938089" "0" "70" "1" "94466624" "94466624" "subst" "0.0014345" "01251" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94001068C>T" "" "likely pathogenic (recessive)" ""
"0000938090" "2" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01251" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000938091" "2" "70" "1" "94466624" "94466624" "subst" "0.0014345" "01251" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94001068C>T" "" "likely pathogenic (recessive)" ""
"0000938092" "2" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01251" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000938093" "2" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01251" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000938094" "0" "90" "1" "94484001" "94484001" "subst" "0" "01251" "ABCA4_000016" "g.94484001C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94018445C>T" "" "pathogenic (recessive)" ""
"0000938095" "0" "90" "1" "94484001" "94484001" "subst" "0" "01251" "ABCA4_000016" "g.94484001C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94018445C>T" "" "pathogenic (recessive)" ""
"0000938096" "0" "50" "1" "94487494" "94487494" "subst" "0" "01251" "ABCA4_002645" "g.94487494A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94021938A>G" "" "VUS" ""
"0000938097" "0" "90" "1" "94471065" "94471065" "subst" "0.000194997" "01251" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94005509G>A" "" "pathogenic (recessive)" ""
"0000938098" "2" "30" "1" "94474432" "94474432" "subst" "2.85339E-5" "01251" "ABCA4_001663" "g.94474432A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94008876A>G" "" "likely benign" ""
"0000938099" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01251" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000938100" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01251" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000938101" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01251" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000938102" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01251" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000938103" "1" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01251" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "no variant 2nd chromosome" "Germline" "yes" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic (recessive)" ""
"0000938105" "2" "90" "1" "94496583" "94496583" "subst" "2.03092E-5" "01251" "ABCA4_000190" "g.94496583A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94031027A>G" "" "pathogenic (recessive)" ""
"0000938106" "2" "90" "1" "94486896" "94486896" "subst" "3.65562E-5" "01251" "ABCA4_000085" "g.94486896G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94021340G>A" "" "pathogenic (recessive)" ""
"0000938107" "0" "50" "1" "94496509" "94496509" "subst" "0.00475243" "01251" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94030953C>T" "" "VUS" ""
"0000938108" "2" "70" "1" "94466624" "94466624" "subst" "0.0014345" "01251" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94001068C>T" "" "likely pathogenic (recessive)" ""
"0000938109" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01251" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000938110" "0" "90" "1" "94486896" "94486896" "subst" "3.65562E-5" "01251" "ABCA4_000085" "g.94486896G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94021340G>A" "" "pathogenic (recessive)" ""
"0000938111" "1" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000938112" "2" "50" "1" "94480196" "94480196" "subst" "0" "01251" "ABCA4_001696" "g.94480196G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94014640G>A" "" "VUS" ""
"0000938113" "1" "70" "1" "94466624" "94466624" "subst" "0.0014345" "01251" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94001068C>T" "" "likely pathogenic (recessive)" ""
"0000938114" "2" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01251" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000938115" "2" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01251" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000938116" "2" "70" "1" "94466624" "94466624" "subst" "0.0014345" "01251" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94001068C>T" "" "likely pathogenic (recessive)" ""
"0000938117" "2" "90" "1" "94496666" "94496666" "subst" "0.000219568" "01251" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94031110G>A" "" "pathogenic (recessive)" ""
"0000938118" "1" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01251" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000938119" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000938120" "0" "90" "1" "94466426" "94466426" "subst" "1.62433E-5" "01251" "ABCA4_000124" "g.94466426G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94000870G>A" "" "pathogenic (recessive)" ""
"0000938121" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01251" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000938122" "0" "90" "1" "94473266" "94473266" "subst" "8.14677E-6" "01251" "ABCA4_000389" "g.94473266C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94007710C>T" "" "pathogenic (recessive)" ""
"0000938123" "2" "90" "1" "94473797" "94473797" "del" "0" "01251" "ABCA4_000401" "g.94473797del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94008241del" "" "pathogenic (recessive)" ""
"0000938124" "2" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01251" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000938125" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000938126" "0" "90" "1" "94466556" "94466556" "subst" "4.06164E-6" "01251" "ABCA4_000831" "g.94466556G>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94001000G>C" "" "pathogenic (recessive)" ""
"0000938127" "2" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01251" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000938128" "0" "50" "1" "94505606" "94505619" "dup" "0" "01251" "ABCA4_002677" "g.94505606_94505619dup" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94040050_94040063dup" "" "VUS" ""
"0000938129" "2" "90" "1" "94473278" "94473278" "del" "3.25908E-5" "01251" "ABCA4_000392" "g.94473278del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94007722del" "" "pathogenic (recessive)" ""
"0000938130" "0" "90" "1" "94471065" "94471065" "subst" "0.000194997" "01251" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94005509G>A" "" "pathogenic (recessive)" ""
"0000938131" "0" "50" "1" "94487490" "94487490" "subst" "0.00122268" "01251" "ABCA4_000506" "g.94487490A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94021934A>G" "" "VUS" ""
"0000938132" "2" "50" "1" "94463612" "94463612" "del" "0" "01251" "ABCA4_002599" "g.94463612del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.93998056del" "" "VUS" ""
"0000938133" "2" "90" "1" "94497564" "94497564" "subst" "1.64383E-5" "01251" "ABCA4_000091" "g.94497564G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94032008G>A" "" "pathogenic (recessive)" ""
"0000938135" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000938136" "2" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01251" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000938137" "2" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01251" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000938138" "0" "50" "1" "94487490" "94487490" "subst" "0.00122268" "01251" "ABCA4_000506" "g.94487490A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94021934A>G" "" "VUS" ""
"0000938139" "1" "70" "1" "94466624" "94466624" "subst" "0.0014345" "01251" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94001068C>T" "" "likely pathogenic (recessive)" ""
"0000938140" "2" "90" "1" "94502701" "94502701" "subst" "0" "01251" "ABCA4_000594" "g.94502701C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94037145C>G" "" "pathogenic (recessive)" ""
"0000938141" "0" "70" "1" "94486939" "94486939" "subst" "0" "01251" "ABCA4_001211" "g.94486939A>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94021383A>T" "" "likely pathogenic (recessive)" ""
"0000938142" "0" "50" "1" "94471050" "94471050" "subst" "0" "01251" "ABCA4_002605" "g.94471050G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94005494G>A" "" "VUS" ""
"0000938143" "2" "90" "1" "94528806" "94528806" "subst" "0.000150298" "01251" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94063250A>G" "" "pathogenic (recessive)" ""
"0000938144" "2" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01251" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic (recessive)" ""
"0000938145" "1" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01251" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic (recessive)" ""
"0000938146" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000938147" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000938148" "2" "90" "1" "94492937" "94492937" "subst" "0" "01251" "ABCA4_000529" "g.94492937G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94027381G>A" "" "pathogenic (recessive)" ""
"0000938149" "0" "90" "1" "94528251" "94528251" "subst" "2.84824E-5" "01251" "ABCA4_000281" "g.94528251C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94062695C>T" "" "pathogenic (recessive)" ""
"0000938150" "0" "70" "1" "94512602" "94512602" "subst" "0.000369717" "01251" "ABCA4_000052" "g.94512602C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94047046C>T" "" "likely pathogenic (recessive)" ""
"0000938151" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000938152" "2" "90" "1" "94510248" "94510248" "subst" "0.000544123" "01251" "ABCA4_000107" "g.94510248C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94044692C>G" "" "pathogenic (recessive)" ""
"0000938153" "2" "70" "1" "94476426" "94476426" "subst" "0" "01251" "ABCA4_000420" "g.94476426T>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94010870T>C" "" "likely pathogenic (recessive)" ""
"0000938154" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000938155" "0" "90" "1" "94486895" "94486895" "subst" "3.24923E-5" "01251" "ABCA4_000484" "g.94486895C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94021339C>T" "" "pathogenic (recessive)" ""
"0000938156" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000938157" "3" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01251" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000938158" "2" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01251" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000938160" "2" "90" "1" "94473190" "94473190" "del" "0" "01251" "ABCA4_001031" "g.94473190del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94007634del" "" "pathogenic (recessive)" ""
"0000938161" "3" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01251" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000938164" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01251" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000938165" "0" "90" "1" "94471046" "94471046" "subst" "0" "01251" "ABCA4_000793" "g.94471046A>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94005490A>C" "" "pathogenic (recessive)" ""
"0000938166" "2" "90" "1" "94497468" "94497468" "subst" "0" "01251" "ABCA4_000582" "g.94497468G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94031912G>A" "" "pathogenic (recessive)" ""
"0000938167" "2" "90" "1" "94497468" "94497468" "subst" "0" "01251" "ABCA4_000582" "g.94497468G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94031912G>A" "" "pathogenic (recessive)" ""
"0000938168" "0" "90" "1" "94471056" "94471056" "subst" "2.84398E-5" "01251" "ABCA4_000050" "g.94471056G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94005500G>A" "" "pathogenic (recessive)" ""
"0000938169" "0" "50" "1" "94476842" "94476842" "subst" "2.43764E-5" "01251" "ABCA4_001682" "g.94476842C>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94011286C>A" "" "VUS" ""
"0000938170" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000938171" "2" "90" "1" "94466559" "94466559" "subst" "0" "01251" "ABCA4_000833" "g.94466559T>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94001003T>C" "" "pathogenic (recessive)" ""
"0000938172" "2" "90" "1" "94484001" "94484001" "subst" "0" "01251" "ABCA4_000016" "g.94484001C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94018445C>T" "" "pathogenic (recessive)" ""
"0000938173" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01251" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000938174" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01251" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000938175" "2" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01251" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000938176" "2" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01251" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000938177" "2" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01251" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000938178" "2" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01251" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000938179" "2" "90" "1" "94496666" "94496666" "subst" "0.000219568" "01251" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94031110G>A" "" "pathogenic (recessive)" ""
"0000938180" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000938181" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01251" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000938183" "0" "90" "1" "94496666" "94496666" "subst" "0.000219568" "01251" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "pathogenic (recessive)" ""
"0000938184" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01251" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000938185" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000938186" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01251" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000938187" "2" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01251" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000938188" "0" "90" "1" "94497591" "94497591" "subst" "0" "01251" "ABCA4_000587" "g.94497591G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94032035G>A" "" "pathogenic (recessive)" ""
"0000938189" "0" "90" "1" "94526230" "94526230" "subst" "7.32136E-5" "01251" "ABCA4_000760" "g.94526230C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94060674C>T" "" "pathogenic (recessive)" ""
"0000938190" "2" "90" "1" "94546118" "94546118" "subst" "8.13326E-6" "01251" "ABCA4_000082" "g.94546118A>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94080562A>C" "" "pathogenic (recessive)" ""
"0000938191" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01251" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000938192" "1" "50" "1" "94485278" "94485278" "subst" "0.000487317" "01251" "ABCA4_000101" "g.94485278C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "no variant 2nd chromosome" "Germline" "yes" "" "0" "" "" "g.94019722C>T" "" "VUS" ""
"0000938193" "0" "70" "1" "94467476" "94467476" "subst" "0" "01251" "ABCA4_000781" "g.94467476C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94001920C>T" "" "likely pathogenic (recessive)" ""
"0000938194" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01251" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000938196" "0" "90" "1" "94471046" "94471046" "subst" "0" "01251" "ABCA4_000793" "g.94471046A>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94005490A>C" "" "pathogenic (recessive)" ""
"0000938197" "1" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01251" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000938198" "2" "90" "1" "94471065" "94471065" "subst" "0.000194997" "01251" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94005509G>A" "" "pathogenic (recessive)" ""
"0000938199" "1" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01251" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000938200" "2" "50" "1" "94473259" "94473259" "subst" "0" "01251" "ABCA4_002610" "g.94473259G>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94007703G>T" "" "VUS" ""
"0000938201" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000938202" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000938203" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01251" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000938204" "0" "90" "1" "94497496" "94497496" "del" "0" "01251" "ABCA4_001859" "g.94497496del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94031940del" "" "pathogenic (recessive)" ""
"0000938206" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01251" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000938207" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000938208" "0" "90" "1" "94508322" "94508322" "subst" "1.62513E-5" "01251" "ABCA4_000128" "g.94508322C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94042766C>T" "" "pathogenic (recessive)" ""
"0000938210" "0" "90" "1" "94510248" "94510248" "subst" "0.000544123" "01251" "ABCA4_000107" "g.94510248C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94044692C>G" "" "pathogenic (recessive)" ""
"0000938211" "2" "50" "1" "94487479" "94487479" "subst" "4.06151E-6" "01251" "ABCA4_001765" "g.94487479G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94021923G>A" "" "VUS" ""
"0000938212" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000938214" "3" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01251" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000938216" "0" "50" "1" "94476428" "94476428" "del" "0" "01251" "ABCA4_002618" "g.94476428del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94010872del" "" "VUS" ""
"0000938217" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000938218" "2" "50" "1" "94476842" "94476842" "subst" "2.43764E-5" "01251" "ABCA4_001682" "g.94476842C>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94011286C>A" "" "VUS" ""
"0000938219" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000938220" "3" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01251" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000938222" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01251" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000938223" "2" "90" "1" "94463568" "94463603" "del" "0" "01251" "ABCA4_000805" "g.94463568_94463603del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.93998012_93998047del" "" "pathogenic (recessive)" ""
"0000938224" "0" "50" "1" "94520760" "94520760" "subst" "0" "01251" "ABCA4_001080" "g.94520760C>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94055204C>A" "" "VUS" ""
"0000938225" "1" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01251" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000938226" "2" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01251" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000938227" "2" "90" "1" "94466426" "94466426" "subst" "1.62433E-5" "01251" "ABCA4_000124" "g.94466426G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94000870G>A" "" "pathogenic (recessive)" ""
"0000938228" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01251" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000938229" "0" "90" "1" "94476351" "94476351" "subst" "0.000296608" "01251" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "pathogenic (recessive)" ""
"0000938230" "1" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000938231" "2" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01251" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000938232" "2" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01251" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000938233" "2" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01251" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000938234" "0" "70" "1" "94512602" "94512602" "subst" "0.000369717" "01251" "ABCA4_000052" "g.94512602C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94047046C>T" "" "likely pathogenic (recessive)" ""
"0000938235" "3" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01251" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000938237" "2" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01251" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000938238" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000938239" "2" "90" "1" "94496666" "94496666" "subst" "0.000219568" "01251" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94031110G>A" "" "pathogenic (recessive)" ""
"0000938240" "1" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01251" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000938241" "2" "90" "1" "94473266" "94473266" "subst" "8.14677E-6" "01251" "ABCA4_000389" "g.94473266C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94007710C>T" "" "pathogenic (recessive)" ""
"0000938242" "1" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01251" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "no variant 2nd chromosome" "Germline" "yes" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000938243" "0" "90" "1" "94486896" "94486896" "subst" "3.65562E-5" "01251" "ABCA4_000085" "g.94486896G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94021340G>A" "" "pathogenic (recessive)" ""
"0000938244" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000938245" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01251" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000938246" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01251" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000938247" "0" "70" "1" "94506959" "94506959" "subst" "8.12321E-6" "01251" "ABCA4_001078" "g.94506959C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94041403C>T" "" "likely pathogenic (recessive)" ""
"0000938248" "0" "50" "1" "94528229" "94528229" "subst" "0" "01251" "ABCA4_002723" "g.94528229A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94062673A>G" "" "VUS" ""
"0000938249" "2" "90" "1" "94471026" "94471026" "subst" "1.21925E-5" "01251" "ABCA4_000791" "g.94471026G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94005470G>A" "" "pathogenic (recessive)" ""
"0000938250" "3" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01251" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000938253" "0" "90" "1" "94564484" "94564484" "subst" "0.000110199" "01251" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94098928G>A" "" "pathogenic (recessive)" ""
"0000938254" "0" "90" "1" "94476351" "94476351" "subst" "0.000296608" "01251" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "pathogenic (recessive)" ""
"0000938255" "0" "30" "1" "94495037" "94495037" "subst" "0.000830658" "01251" "ABCA4_000908" "g.94495037C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94029481C>G" "" "likely benign" ""
"0000938256" "0" "70" "1" "94466624" "94466624" "subst" "0.0014345" "01251" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94001068C>T" "" "likely pathogenic (recessive)" ""
"0000938257" "2" "90" "1" "94476942" "94476942" "subst" "0" "01251" "ABCA4_001487" "g.94476942C>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94011386C>A" "" "pathogenic (recessive)" ""
"0000938258" "2" "90" "1" "94508435" "94508436" "dup" "0" "01251" "ABCA4_000998" "g.94508435_94508436dup" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94042879_94042880dup" "" "pathogenic (recessive)" ""
"0000938259" "2" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01251" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000938260" "2" "90" "1" "94497495" "94497495" "del" "0" "01251" "ABCA4_000584" "g.94497495del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94031939del" "" "pathogenic (recessive)" ""
"0000938261" "1" "90" "1" "94528251" "94528251" "subst" "2.84824E-5" "01251" "ABCA4_000281" "g.94528251C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94062695C>T" "" "pathogenic (recessive)" ""
"0000938262" "2" "90" "1" "94495078" "94495078" "subst" "8.37044E-6" "01251" "ABCA4_000042" "g.94495078A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94029522A>G" "" "pathogenic (recessive)" ""
"0000938263" "1" "90" "1" "94528251" "94528251" "subst" "2.84824E-5" "01251" "ABCA4_000281" "g.94528251C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94062695C>T" "" "pathogenic (recessive)" ""
"0000938264" "2" "90" "1" "94495078" "94495078" "subst" "8.37044E-6" "01251" "ABCA4_000042" "g.94495078A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94029522A>G" "" "pathogenic (recessive)" ""
"0000938265" "2" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01251" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000938266" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000938267" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000938268" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000938269" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000938270" "2" "90" "1" "94487251" "94487251" "subst" "2.85679E-5" "01251" "ABCA4_000490" "g.94487251G>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94021695G>T" "" "pathogenic (recessive)" ""
"0000938271" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000938272" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000938273" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01251" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000938274" "0" "90" "1" "94544159" "94544159" "subst" "2.03079E-5" "01251" "ABCA4_000063" "g.94544159A>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94078603A>T" "" "pathogenic (recessive)" ""
"0000938275" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01251" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000938276" "3" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01251" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000938277" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01251" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000938280" "1" "70" "1" "94466624" "94466624" "subst" "0.0014345" "01251" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94001068C>T" "" "likely pathogenic (recessive)" ""
"0000938281" "2" "70" "1" "94486965" "94486965" "subst" "0" "01251" "ABCA4_001063" "g.94486965C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94021409C>T" "" "likely pathogenic (recessive)" ""
"0000938282" "2" "50" "1" "" "" "" "" "01251" "ABCA4_002594" "g.(94467549_94470996)_()del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.(94001993_94005440)-()del" "" "VUS" ""
"0000938283" "0" "30" "1" "94495037" "94495037" "subst" "0.000830658" "01251" "ABCA4_000908" "g.94495037C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94029481C>G" "" "likely benign" ""
"0000938284" "2" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01251" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000938285" "2" "70" "1" "94466624" "94466624" "subst" "0.0014345" "01251" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94001068C>T" "" "likely pathogenic (recessive)" ""
"0000938286" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000938287" "0" "70" "1" "94495979" "94495979" "subst" "0" "01251" "ABCA4_001820" "g.94495979C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94030423C>T" "" "likely pathogenic (recessive)" ""
"0000938288" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01251" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000938289" "1" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01251" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic (recessive)" ""
"0000938290" "2" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01251" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000938292" "3" "50" "1" "94548943" "94548943" "subst" "0" "01251" "ABCA4_002746" "g.94548943C>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94083387C>A" "" "VUS" ""
"0000938294" "3" "70" "1" "94546207" "94546207" "subst" "0.000101665" "01251" "ABCA4_000083" "g.94546207G>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94080651G>C" "" "likely pathogenic (recessive)" ""
"0000938296" "3" "90" "1" "94476351" "94476351" "subst" "0.000296608" "01251" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "pathogenic (recessive)" ""
"0000938298" "3" "70" "1" "94520688" "94520688" "subst" "0" "01251" "ABCA4_001517" "g.94520688A>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94055132A>T" "" "likely pathogenic (recessive)" ""
"0000938299" "0" "70" "1" "94466624" "94466624" "subst" "0.0014345" "01251" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94001068C>T" "" "likely pathogenic (recessive)" ""
"0000938300" "0" "90" "1" "94471065" "94471065" "subst" "0.000194997" "01251" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94005509G>A" "" "pathogenic (recessive)" ""
"0000938301" "0" "50" "1" "94485265" "94485265" "subst" "0" "01251" "ABCA4_002631" "g.94485265A>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94019709A>C" "" "VUS" ""
"0000938302" "0" "90" "1" "94467467" "94467467" "subst" "4.06164E-6" "01251" "ABCA4_000780" "g.94467467G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94001911G>A" "" "pathogenic (recessive)" ""
"0000938303" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000938304" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000938305" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000938306" "3" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01251" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000938308" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01251" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000938309" "2" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01251" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000938310" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000938311" "2" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01251" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000938312" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000938313" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01251" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000938314" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000938315" "0" "70" "1" "94509018" "94509018" "subst" "8.12869E-6" "01251" "ABCA4_000659" "g.94509018C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94043462C>T" "" "likely pathogenic (recessive)" ""
"0000938316" "3" "90" "1" "94485279" "94485293" "del" "0" "01251" "ABCA4_000476" "g.94485279_94485293del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94019723_94019737del" "" "pathogenic (recessive)" ""
"0000938319" "0" "70" "1" "94466624" "94466624" "subst" "0.0014345" "01251" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94001068C>T" "" "likely pathogenic (recessive)" ""
"0000938320" "0" "70" "1" "94473808" "94473808" "subst" "8.52861E-5" "01251" "ABCA4_000196" "g.94473808C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94008252C>T" "" "likely pathogenic (recessive)" ""
"0000938322" "1" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01251" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000938323" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000938324" "2" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01251" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000938325" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01251" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000938326" "0" "90" "1" "94471037" "94471037" "subst" "0" "01251" "ABCA4_001062" "g.94471037T>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94005481T>C" "" "pathogenic (recessive)" ""
"0000938327" "2" "90" "1" "94497495" "94497495" "del" "0" "01251" "ABCA4_000584" "g.94497495del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94031939del" "" "pathogenic (recessive)" ""
"0000938328" "2" "50" "1" "94487401" "94496083" "del" "0" "01251" "ABCA4_002642" "g.(94487271_94487401)_(94496083_94496551)del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.(94021715_94021845)_(94030527_94030995)del" "" "VUS" ""
"0000938329" "2" "30" "1" "94505604" "94505604" "subst" "0.00645586" "01251" "ABCA4_000092" "g.94505604A>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94040048A>C" "" "likely benign" ""
"0000938330" "2" "50" "1" "94476449" "94476449" "subst" "0" "01251" "ABCA4_001030" "g.94476449A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94010893A>G" "" "VUS" ""
"0000938331" "0" "50" "1" "94505646" "94505646" "subst" "0" "01251" "ABCA4_002678" "g.94505646G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94040090G>A" "" "VUS" ""
"0000938332" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000938333" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01251" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000938334" "2" "70" "1" "94496627" "94496627" "del" "0" "01251" "ABCA4_002333" "g.94496627del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94031071del" "" "likely pathogenic (recessive)" ""
"0000938335" "0" "90" "1" "94476351" "94476351" "subst" "0.000296608" "01251" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "pathogenic (recessive)" ""
"0000938336" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01251" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000938337" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01251" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000938338" "2" "90" "1" "94496666" "94496666" "subst" "0.000219568" "01251" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94031110G>A" "" "pathogenic (recessive)" ""
"0000938339" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000938340" "3" "90" "1" "94473278" "94473278" "del" "3.25908E-5" "01251" "ABCA4_000392" "g.94473278del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94007722del" "" "pathogenic (recessive)" ""
"0000938341" "0" "50" "1" "94496687" "94496687" "subst" "0" "01251" "ABCA4_002667" "g.94496687A>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94031131A>C" "" "VUS" ""
"0000938342" "0" "70" "1" "94471034" "94471034" "subst" "0" "01251" "ABCA4_001621" "g.94471034G>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94005478G>T" "" "likely pathogenic (recessive)" ""
"0000938343" "0" "70" "1" "94466624" "94466624" "subst" "0.0014345" "01251" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94001068C>T" "" "likely pathogenic (recessive)" ""
"0000938344" "0" "90" "1" "94476942" "94476942" "subst" "0" "01251" "ABCA4_001487" "g.94476942C>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94011386C>A" "" "pathogenic (recessive)" ""
"0000938345" "1" "50" "1" "94473287" "94473287" "subst" "0.00293818" "01251" "ABCA4_000395" "g.94473287G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94007731G>A" "" "VUS" ""
"0000938346" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000938347" "0" "90" "1" "94471056" "94471056" "subst" "2.84398E-5" "01251" "ABCA4_000050" "g.94471056G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94005500G>A" "" "pathogenic (recessive)" ""
"0000938348" "0" "90" "1" "94476351" "94476351" "subst" "0.000296608" "01251" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "pathogenic (recessive)" ""
"0000938349" "0" "90" "1" "94480178" "94480178" "subst" "2.43692E-5" "01251" "ABCA4_000005" "g.94480178G>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94014622G>T" "" "pathogenic (recessive)" ""
"0000938350" "2" "90" "1" "94473266" "94473266" "subst" "8.14677E-6" "01251" "ABCA4_000389" "g.94473266C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94007710C>T" "" "pathogenic (recessive)" ""
"0000938351" "2" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01251" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000938352" "2" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01251" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000938353" "0" "90" "1" "94480178" "94480178" "subst" "2.43692E-5" "01251" "ABCA4_000005" "g.94480178G>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94014622G>T" "" "pathogenic (recessive)" ""
"0000938354" "0" "90" "1" "94466556" "94466556" "subst" "4.06164E-6" "01251" "ABCA4_000831" "g.94466556G>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94001000G>C" "" "pathogenic (recessive)" ""
"0000938355" "2" "90" "1" "94496020" "94496020" "subst" "8.12143E-6" "01251" "ABCA4_000014" "g.94496020C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94030464C>T" "" "pathogenic (recessive)" ""
"0000938356" "3" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01251" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000938357" "3" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01251" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000938358" "2" "50" "1" "94480217" "94480217" "subst" "0" "01251" "ABCA4_001698" "g.94480217G>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94014661G>T" "" "VUS" ""
"0000938359" "0" "90" "1" "94466461" "94466461" "subst" "0" "01251" "ABCA4_000825" "g.94466461C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94000905C>T" "" "pathogenic (recessive)" ""
"0000938360" "0" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01251" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic (recessive)" ""
"0000938361" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000938362" "0" "50" "1" "94512482" "94512482" "del" "0" "01251" "ABCA4_002696" "g.94512482del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94046926del" "" "VUS" ""
"0000938363" "2" "90" "1" "94502701" "94502701" "subst" "0" "01251" "ABCA4_000594" "g.94502701C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94037145C>G" "" "pathogenic (recessive)" ""
"0000938364" "2" "90" "1" "94471065" "94471065" "subst" "0.000194997" "01251" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94005509G>A" "" "pathogenic (recessive)" ""
"0000938365" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000938366" "2" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01251" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000938367" "2" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01251" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000938368" "2" "90" "1" "94496020" "94496020" "subst" "8.12143E-6" "01251" "ABCA4_000014" "g.94496020C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94030464C>T" "" "pathogenic (recessive)" ""
"0000938369" "1" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01251" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000938370" "2" "50" "1" "94496679" "94496679" "subst" "0" "01251" "ABCA4_001844" "g.94496679G>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94031123G>T" "" "VUS" ""
"0000938371" "2" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01251" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000938372" "0" "50" "1" "94476823" "94476823" "del" "0" "01251" "ABCA4_002623" "g.94476823del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94011267del" "" "VUS" ""
"0000938373" "2" "90" "1" "94473797" "94473797" "del" "0" "01251" "ABCA4_000401" "g.94473797del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94008241del" "" "pathogenic (recessive)" ""
"0000938374" "2" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01251" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000938375" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000938376" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000938377" "0" "90" "1" "94510253" "94510253" "subst" "0.000247694" "01251" "ABCA4_000108" "g.94510253A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94044697A>G" "" "pathogenic (recessive)" ""
"0000938379" "0" "90" "1" "94546118" "94546118" "subst" "8.13326E-6" "01251" "ABCA4_000082" "g.94546118A>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94080562A>C" "" "pathogenic (recessive)" ""
"0000938380" "0" "70" "1" "94466657" "94466657" "subst" "0" "01251" "ABCA4_000843" "g.94466657T>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94001101T>C" "" "likely pathogenic (recessive)" ""
"0000938381" "2" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01251" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000938382" "2" "90" "1" "94474381" "94474381" "subst" "1.21849E-5" "01251" "ABCA4_000410" "g.94474381C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94008825C>T" "" "pathogenic (recessive)" ""
"0000938383" "0" "90" "1" "94528806" "94528806" "subst" "0.000150298" "01251" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "pathogenic (recessive)" ""
"0000938384" "0" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01251" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic (recessive)" ""
"0000938385" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01251" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000938386" "0" "90" "1" "94471065" "94471065" "subst" "0.000194997" "01251" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94005509G>A" "" "pathogenic (recessive)" ""
"0000938387" "2" "90" "1" "94480178" "94480178" "subst" "2.43692E-5" "01251" "ABCA4_000005" "g.94480178G>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94014622G>T" "" "pathogenic (recessive)" ""
"0000938388" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01251" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000938389" "0" "70" "1" "94463425" "94463425" "subst" "0.000109787" "01251" "ABCA4_000853" "g.94463425G>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.93997869G>C" "" "likely pathogenic (recessive)" ""
"0000938390" "0" "90" "1" "94485279" "94485293" "del" "0" "01251" "ABCA4_000476" "g.94485279_94485293del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94019723_94019737del" "" "pathogenic (recessive)" ""
"0000938391" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01251" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000938392" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01251" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000938393" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000938394" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01251" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000938395" "0" "90" "1" "94471055" "94471055" "subst" "0.00035346" "01251" "ABCA4_000029" "g.94471055C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94005499C>T" "" "pathogenic (recessive)" ""
"0000938396" "0" "50" "1" "94487402" "94487402" "subst" "0" "01251" "ABCA4_002643" "g.94487402C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94021846C>T" "" "VUS" ""
"0000938397" "0" "90" "1" "94497396" "94497396" "subst" "0" "01251" "ABCA4_001291" "g.94497396G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94031840G>A" "" "pathogenic (recessive)" ""
"0000938398" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000938399" "0" "50" "1" "94471100" "94471100" "subst" "0" "01251" "ABCA4_002606" "g.94471100C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94005544C>T" "" "VUS" ""
"0000938400" "0" "90" "1" "94471055" "94471055" "subst" "0.00035346" "01251" "ABCA4_000029" "g.94471055C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94005499C>T" "" "pathogenic (recessive)" ""
"0000938401" "0" "90" "1" "94508353" "94508353" "subst" "2.8431E-5" "01251" "ABCA4_000141" "g.94508353G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94042797G>A" "" "pathogenic (recessive)" ""
"0000938402" "0" "90" "1" "94505599" "94505599" "subst" "0" "01251" "ABCA4_000152" "g.94505599C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94040043C>T" "" "pathogenic (recessive)" ""
"0000938403" "1" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01251" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000938404" "2" "90" "1" "94476351" "94476351" "subst" "0.000296608" "01251" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94010795C>T" "" "pathogenic (recessive)" ""
"0000938405" "0" "70" "1" "94466624" "94466624" "subst" "0.0014345" "01251" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94001068C>T" "" "likely pathogenic (recessive)" ""
"0000938406" "2" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01251" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000938407" "0" "90" "1" "94471032" "94471032" "subst" "1.62553E-5" "01251" "ABCA4_000792" "g.94471032G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94005476G>A" "" "pathogenic (recessive)" ""
"0000938408" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000938409" "0" "50" "1" "94481319" "94481319" "subst" "0" "01251" "ABCA4_000454" "g.94481319A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94015763A>G" "" "VUS" ""
"0000938410" "0" "30" "1" "94495037" "94495037" "subst" "0.000830658" "01251" "ABCA4_000908" "g.94495037C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94029481C>G" "" "likely benign" ""
"0000938411" "0" "90" "1" "94495071" "94495071" "subst" "6.39479E-5" "01251" "ABCA4_000997" "g.94495071C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94029515C>T" "" "pathogenic (recessive)" ""
"0000938412" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01251" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000938413" "3" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01251" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000938414" "2" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01251" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000938416" "3" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01251" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000938419" "0" "70" "1" "94486965" "94486965" "subst" "0" "01251" "ABCA4_001063" "g.94486965C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94021409C>T" "" "likely pathogenic (recessive)" ""
"0000938420" "0" "90" "1" "94546283" "94546283" "subst" "8.18311E-5" "01251" "ABCA4_000356" "g.94546283A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94080727A>G" "" "pathogenic (recessive)" ""
"0000938421" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01251" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000938422" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000938424" "2" "70" "1" "94495979" "94495979" "subst" "0" "01251" "ABCA4_001820" "g.94495979C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94030423C>T" "" "likely pathogenic (recessive)" ""
"0000938426" "2" "90" "1" "94546118" "94546118" "subst" "8.13326E-6" "01251" "ABCA4_000082" "g.94546118A>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94080562A>C" "" "pathogenic (recessive)" ""
"0000938427" "0" "90" "1" "94506923" "94506923" "subst" "2.43657E-5" "01251" "ABCA4_000012" "g.94506923C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94041367C>T" "" "pathogenic (recessive)" ""
"0000938428" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01251" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000938429" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000938430" "2" "90" "1" "94528179" "94528179" "subst" "0" "01251" "ABCA4_001433" "g.94528179C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94062623C>T" "" "pathogenic (recessive)" ""
"0000938431" "2" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01251" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000938432" "3" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01251" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000938437" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000938438" "0" "70" "1" "94546265" "94546265" "subst" "2.04063E-5" "01251" "ABCA4_000355" "g.94546265G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94080709G>A" "" "likely pathogenic (recessive)" ""
"0000938439" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01251" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000938440" "0" "70" "1" "94486888" "94486888" "subst" "3.65548E-5" "01251" "ABCA4_000137" "g.94486888G>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94021332G>C" "" "likely pathogenic (recessive)" ""
"0000938441" "0" "90" "1" "94485279" "94485293" "del" "0" "01251" "ABCA4_000476" "g.94485279_94485293del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94019723_94019737del" "" "pathogenic (recessive)" ""
"0000938442" "2" "90" "1" "94502832" "94502832" "subst" "0" "01251" "ABCA4_001879" "g.94502832C>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94037276C>A" "" "pathogenic (recessive)" ""
"0000938443" "0" "90" "1" "94508353" "94508353" "subst" "2.8431E-5" "01251" "ABCA4_000141" "g.94508353G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94042797G>A" "" "pathogenic (recessive)" ""
"0000938444" "0" "70" "1" "94466624" "94466624" "subst" "0.0014345" "01251" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94001068C>T" "" "likely pathogenic (recessive)" ""
"0000938445" "0" "90" "1" "94492937" "94492937" "subst" "0" "01251" "ABCA4_000529" "g.94492937G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94027381G>A" "" "pathogenic (recessive)" ""
"0000938446" "2" "50" "1" "94473274" "94473274" "subst" "0" "01251" "ABCA4_000391" "g.94473274T>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94007718T>C" "" "VUS" ""
"0000938447" "0" "90" "1" "94522194" "94522194" "subst" "0" "01251" "ABCA4_000733" "g.94522194C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94056638C>T" "" "pathogenic (recessive)" ""
"0000938448" "2" "50" "1" "94485157" "94485157" "subst" "0" "01251" "ABCA4_000466" "g.94485157G>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94019601G>T" "" "VUS" ""
"0000938449" "2" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01251" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000938450" "1" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01251" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000938451" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000938452" "2" "90" "1" "94476381" "94476381" "subst" "0" "01251" "ABCA4_001668" "g.94476381G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94010825G>A" "" "pathogenic (recessive)" ""
"0000938453" "2" "90" "1" "94492937" "94492937" "subst" "0" "01251" "ABCA4_000529" "g.94492937G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94027381G>A" "" "pathogenic (recessive)" ""
"0000938455" "1" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01251" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000938456" "2" "90" "1" "94471065" "94471065" "subst" "0.000194997" "01251" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94005509G>A" "" "pathogenic (recessive)" ""
"0000938457" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01251" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000938458" "0" "90" "1" "94473266" "94473266" "subst" "8.14677E-6" "01251" "ABCA4_000389" "g.94473266C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94007710C>T" "" "pathogenic (recessive)" ""
"0000938459" "0" "90" "1" "94528806" "94528806" "subst" "0.000150298" "01251" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94063250A>G" "" "pathogenic (recessive)" ""
"0000938460" "0" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01251" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic (recessive)" ""
"0000938461" "0" "90" "1" "94490600" "94490601" "del" "0" "01251" "ABCA4_000528" "g.94490600_94490601del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94025044_94025045del" "" "pathogenic (recessive)" ""
"0000938462" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000938463" "0" "50" "1" "94476842" "94476842" "subst" "2.43764E-5" "01251" "ABCA4_001682" "g.94476842C>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94011286C>A" "" "VUS" ""
"0000938465" "2" "90" "1" "94466559" "94466559" "subst" "0" "01251" "ABCA4_000833" "g.94466559T>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94001003T>C" "" "pathogenic (recessive)" ""
"0000938466" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000938467" "0" "90" "1" "94463488" "94463488" "subst" "5.2803E-5" "01251" "ABCA4_000802" "g.94463488G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.93997932G>A" "" "pathogenic (recessive)" ""
"0000938468" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01251" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000938469" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000938470" "1" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01251" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000938471" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000938472" "2" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01251" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000938473" "0" "90" "1" "94495009" "94495009" "dup" "0" "01251" "ABCA4_000087" "g.94495009dup" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94029453dup" "" "pathogenic (recessive)" ""
"0000938474" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000938475" "2" "90" "1" "94485137" "94485137" "subst" "0" "01251" "ABCA4_000464" "g.94485137C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94019581C>T" "" "pathogenic (recessive)" ""
"0000938477" "1" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01251" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic (recessive)" ""
"0000938478" "2" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01251" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000938479" "0" "90" "1" "94466456" "94466456" "subst" "8.1217E-6" "01251" "ABCA4_000181" "g.94466456G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94000900G>A" "" "pathogenic (recessive)" ""
"0000938480" "2" "90" "1" "94471037" "94471037" "subst" "0" "01251" "ABCA4_001062" "g.94471037T>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94005481T>C" "" "pathogenic (recessive)" ""
"0000938481" "0" "70" "1" "94466624" "94466624" "subst" "0.0014345" "01251" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94001068C>T" "" "likely pathogenic (recessive)" ""
"0000938482" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01251" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000938485" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01251" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000938486" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01251" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000938487" "3" "90" "1" "94476351" "94476351" "subst" "0.000296608" "01251" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94010795C>T" "" "pathogenic (recessive)" ""
"0000938492" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000938493" "0" "70" "1" "94493895" "94493895" "subst" "0" "01251" "ABCA4_001084" "g.94493895G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94028339G>A" "" "likely pathogenic (recessive)" ""
"0000938494" "2" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01251" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000938495" "2" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01251" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000938496" "0" "50" "1" "94486914" "94486914" "subst" "0" "01251" "ABCA4_002637" "g.94486914C>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94021358C>A" "" "VUS" ""
"0000938497" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01251" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000938498" "2" "90" "1" "94471026" "94471026" "subst" "1.21925E-5" "01251" "ABCA4_000791" "g.94471026G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94005470G>A" "" "pathogenic (recessive)" ""
"0000938499" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01251" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000938500" "2" "90" "1" "94497392" "94497392" "subst" "0" "01251" "ABCA4_000577" "g.94497392G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94031836G>A" "" "pathogenic (recessive)" ""
"0000938501" "2" "90" "1" "94471037" "94471037" "subst" "0" "01251" "ABCA4_001062" "g.94471037T>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94005481T>C" "" "pathogenic (recessive)" ""
"0000938502" "1" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01251" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "no variant 2nd chromosome" "Germline" "yes" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000938505" "1" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01251" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000938506" "2" "90" "1" "94508435" "94508436" "dup" "0" "01251" "ABCA4_000998" "g.94508435_94508436dup" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94042879_94042880dup" "" "pathogenic (recessive)" ""
"0000938507" "0" "50" "1" "94502867" "94502867" "subst" "0" "01251" "ABCA4_002674" "g.94502867A>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94037311A>C" "" "VUS" ""
"0000938508" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000938509" "0" "50" "1" "94508969" "94508969" "subst" "0" "01251" "ABCA4_002688" "g.94508969G>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94043413G>T" "" "VUS" ""
"0000938510" "2" "90" "1" "94502326" "94502326" "subst" "0" "01251" "ABCA4_001865" "g.94502326C>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94036770C>A" "" "pathogenic (recessive)" ""
"0000938511" "0" "90" "1" "94510253" "94510253" "subst" "0.000247694" "01251" "ABCA4_000108" "g.94510253A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94044697A>G" "" "pathogenic (recessive)" ""
"0000938512" "2" "50" "1" "94506913" "94506913" "subst" "0" "01251" "ABCA4_002680" "g.94506913A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94041357A>G" "" "VUS" ""
"0000938514" "2" "90" "1" "94473266" "94473266" "subst" "8.14677E-6" "01251" "ABCA4_000389" "g.94473266C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94007710C>T" "" "pathogenic (recessive)" ""
"0000938515" "0" "50" "1" "94517188" "94517188" "subst" "0" "01251" "ABCA4_002704" "g.94517188C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94051632C>T" "" "VUS" ""
"0000938516" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01251" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000938517" "0" "90" "1" "94496571" "94496571" "subst" "4.06174E-6" "01251" "ABCA4_000111" "g.94496571G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94031015G>A" "" "pathogenic (recessive)" ""
"0000938518" "0" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01251" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic (recessive)" ""
"0000938519" "0" "70" "1" "94466624" "94466624" "subst" "0.0014345" "01251" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94001068C>T" "" "likely pathogenic (recessive)" ""
"0000938520" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000938521" "0" "90" "1" "94484001" "94484001" "subst" "0" "01251" "ABCA4_000016" "g.94484001C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94018445C>T" "" "pathogenic (recessive)" ""
"0000938522" "2" "90" "1" "94528251" "94528251" "subst" "2.84824E-5" "01251" "ABCA4_000281" "g.94528251C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94062695C>T" "" "pathogenic (recessive)" ""
"0000938523" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000938524" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01251" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000938525" "0" "70" "1" "94467476" "94467476" "subst" "0" "01251" "ABCA4_000781" "g.94467476C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94001920C>T" "" "likely pathogenic (recessive)" ""
"0000938526" "1" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01251" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000938527" "2" "90" "1" "94471065" "94471065" "subst" "0.000194997" "01251" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94005509G>A" "" "pathogenic (recessive)" ""
"0000938528" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01251" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000938529" "3" "90" "1" "94473278" "94473278" "del" "3.25908E-5" "01251" "ABCA4_000392" "g.94473278del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94007722del" "" "pathogenic (recessive)" ""
"0000938530" "3" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01251" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000938531" "3" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01251" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000938532" "3" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01251" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000938533" "2" "50" "1" "94486922" "94486922" "subst" "0" "01251" "ABCA4_000044" "g.94486922A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94021366A>G" "" "VUS" ""
"0000938534" "2" "90" "1" "94466559" "94466559" "subst" "0" "01251" "ABCA4_000833" "g.94466559T>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94001003T>C" "" "pathogenic (recessive)" ""
"0000938535" "0" "70" "1" "94481296" "94481296" "subst" "4.07329E-6" "01251" "ABCA4_001532" "g.94481296C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94015740C>T" "" "likely pathogenic (recessive)" ""
"0000938536" "3" "90" "1" "94577010" "94577010" "subst" "1.22004E-5" "01251" "ABCA4_000224" "g.94577010T>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94111454T>C" "" "pathogenic (recessive)" ""
"0000938537" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01251" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000938538" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01251" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000938539" "0" "90" "1" "94486896" "94486896" "subst" "3.65562E-5" "01251" "ABCA4_000085" "g.94486896G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94021340G>A" "" "pathogenic (recessive)" ""
"0000938540" "2" "50" "1" "94496509" "94496509" "subst" "0.00475243" "01251" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94030953C>T" "" "VUS" ""
"0000938541" "2" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01251" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000938542" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000938543" "0" "90" "1" "94476351" "94476351" "subst" "0.000296608" "01251" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "pathogenic (recessive)" ""
"0000938544" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000938545" "1" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01251" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000938546" "2" "90" "1" "94461664" "94461664" "subst" "4.06841E-6" "01251" "ABCA4_001559" "g.94461664C>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.93996108C>A" "" "pathogenic (recessive)" ""
"0000938547" "0" "70" "1" "94467476" "94467476" "subst" "0" "01251" "ABCA4_000781" "g.94467476C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94001920C>T" "" "likely pathogenic (recessive)" ""
"0000938548" "1" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01251" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000938549" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000938550" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000938551" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01251" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000938552" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01251" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000938553" "0" "70" "1" "94466624" "94466624" "subst" "0.0014345" "01251" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94001068C>T" "" "likely pathogenic (recessive)" ""
"0000938554" "3" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01251" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic (recessive)" ""
"0000938555" "3" "50" "1" "94526246" "94526246" "subst" "0" "01251" "ABCA4_002718" "g.94526246C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94060690C>G" "" "VUS" ""
"0000938556" "3" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01251" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic (recessive)" ""
"0000938557" "0" "90" "1" "94471065" "94471065" "subst" "0.000194997" "01251" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94005509G>A" "" "pathogenic (recessive)" ""
"0000938558" "0" "70" "1" "94496627" "94496627" "del" "0" "01251" "ABCA4_002333" "g.94496627del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94031071del" "" "likely pathogenic (recessive)" ""
"0000938559" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01251" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000938560" "0" "50" "1" "94520690" "94520690" "subst" "2.03102E-5" "01251" "ABCA4_000149" "g.94520690C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94055134C>T" "" "VUS" ""
"0000938561" "0" "90" "1" "94487251" "94487251" "subst" "2.85679E-5" "01251" "ABCA4_000490" "g.94487251G>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94021695G>T" "" "pathogenic (recessive)" ""
"0000938562" "0" "90" "1" "94508322" "94508322" "subst" "1.62513E-5" "01251" "ABCA4_000128" "g.94508322C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94042766C>T" "" "pathogenic (recessive)" ""
"0000938563" "0" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01251" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic (recessive)" ""
"0000938564" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01251" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000938565" "0" "50" "1" "94508356" "94508356" "subst" "0" "01251" "ABCA4_002683" "g.94508356T>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94042800T>C" "" "VUS" ""
"0000938566" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000938567" "2" "90" "1" "94528806" "94528806" "subst" "0.000150298" "01251" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94063250A>G" "" "pathogenic (recessive)" ""
"0000938568" "2" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01251" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic (recessive)" ""
"0000938569" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01251" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000938570" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000938571" "0" "90" "1" "94473790" "94473790" "subst" "0" "01251" "ABCA4_000399" "g.94473790C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94008234C>T" "" "pathogenic (recessive)" ""
"0000938572" "2" "90" "1" "94496666" "94496666" "subst" "0.000219568" "01251" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94031110G>A" "" "pathogenic (recessive)" ""
"0000938573" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01251" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000938574" "0" "90" "1" "94476351" "94476351" "subst" "0.000296608" "01251" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "pathogenic (recessive)" ""
"0000938575" "2" "90" "1" "94509026" "94509026" "subst" "4.06497E-5" "01251" "ABCA4_000660" "g.94509026G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94043470G>A" "" "pathogenic (recessive)" ""
"0000938576" "2" "50" "1" "94488939" "94488939" "subst" "0" "01251" "ABCA4_002647" "g.94488939T>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94023383T>G" "" "VUS" ""
"0000938577" "2" "50" "1" "94488939" "94488939" "subst" "0" "01251" "ABCA4_002647" "g.94488939T>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94023383T>G" "" "VUS" ""
"0000938578" "0" "50" "1" "94476451" "94476451" "del" "0" "01251" "ABCA4_002619" "g.94476451del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94010895del" "" "VUS" ""
"0000938579" "2" "90" "1" "94497495" "94497495" "del" "0" "01251" "ABCA4_000584" "g.94497495del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94031939del" "" "pathogenic (recessive)" ""
"0000938580" "0" "70" "1" "94476875" "94476875" "subst" "1.62489E-5" "01251" "ABCA4_001280" "g.94476875G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94011319G>A" "" "likely pathogenic (recessive)" ""
"0000938581" "2" "90" "1" "94508386" "94508386" "subst" "1.62443E-5" "01251" "ABCA4_000642" "g.94508386C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94042830C>T" "" "pathogenic (recessive)" ""
"0000938582" "2" "90" "1" "94508386" "94508386" "subst" "1.62443E-5" "01251" "ABCA4_000642" "g.94508386C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94042830C>T" "" "pathogenic (recessive)" ""
"0000938583" "0" "90" "1" "94476351" "94476351" "subst" "0.000296608" "01251" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "pathogenic (recessive)" ""
"0000938584" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000938585" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01251" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000938586" "2" "90" "1" "94480178" "94480178" "subst" "2.43692E-5" "01251" "ABCA4_000005" "g.94480178G>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94014622G>T" "" "pathogenic (recessive)" ""
"0000938587" "2" "90" "1" "94476351" "94476351" "subst" "0.000296608" "01251" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94010795C>T" "" "pathogenic (recessive)" ""
"0000938588" "1" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01251" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic (recessive)" ""
"0000938589" "2" "50" "1" "94487490" "94487490" "subst" "0.00122268" "01251" "ABCA4_000506" "g.94487490A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94021934A>G" "" "VUS" ""
"0000938590" "2" "50" "1" "94463612" "94463612" "del" "0" "01251" "ABCA4_002599" "g.94463612del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.93998056del" "" "VUS" ""
"0000938591" "0" "90" "1" "94476351" "94476351" "subst" "0.000296608" "01251" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "pathogenic (recessive)" ""
"0000938592" "1" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000938593" "2" "90" "1" "94471065" "94471065" "subst" "0.000194997" "01251" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94005509G>A" "" "pathogenic (recessive)" ""
"0000938594" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01251" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000938595" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000938596" "3" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01251" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000938597" "3" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01251" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000938598" "3" "90" "1" "94463488" "94463488" "subst" "5.2803E-5" "01251" "ABCA4_000802" "g.94463488G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.93997932G>A" "" "pathogenic (recessive)" ""
"0000938599" "2" "90" "1" "94520690" "94520690" "subst" "2.03102E-5" "01251" "ABCA4_000149" "g.94520690C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94055134C>T" "" "pathogenic (recessive)" ""
"0000938600" "0" "90" "1" "94486896" "94486896" "subst" "3.65562E-5" "01251" "ABCA4_000085" "g.94486896G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94021340G>A" "" "pathogenic (recessive)" ""
"0000938601" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01251" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000938602" "0" "70" "1" "94544249" "94544249" "subst" "8.12196E-6" "01251" "ABCA4_000323" "g.94544249A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94078693A>G" "" "likely pathogenic (recessive)" ""
"0000938603" "2" "90" "1" "94476351" "94476351" "subst" "0.000296608" "01251" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94010795C>T" "" "pathogenic (recessive)" ""
"0000938604" "3" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01251" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000938605" "3" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01251" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000938606" "0" "50" "1" "94509003" "94509003" "subst" "0" "01251" "ABCA4_002691" "g.94509003A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94043447A>G" "" "VUS" ""
"0000938607" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000938608" "2" "90" "1" "94496666" "94496666" "subst" "0.000219568" "01251" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94031110G>A" "" "pathogenic (recessive)" ""
"0000938609" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01251" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000938610" "0" "90" "1" "94473190" "94473190" "del" "0" "01251" "ABCA4_001031" "g.94473190del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94007634del" "" "pathogenic (recessive)" ""
"0000938611" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01251" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000938612" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01251" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000938613" "0" "70" "1" "94480175" "94480175" "subst" "0" "01251" "ABCA4_001694" "g.94480175A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94014619A>G" "" "likely pathogenic (recessive)" ""
"0000938614" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01251" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000938615" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01251" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000938616" "0" "90" "1" "94484001" "94484001" "subst" "0" "01251" "ABCA4_000016" "g.94484001C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94018445C>T" "" "pathogenic (recessive)" ""
"0000938617" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01251" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000938618" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000938619" "0" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01251" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic (recessive)" ""
"0000938620" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000938621" "2" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01251" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000938622" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01251" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000938623" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01251" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000938624" "1" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01251" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000938625" "2" "90" "1" "94471056" "94471056" "subst" "2.84398E-5" "01251" "ABCA4_000050" "g.94471056G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94005500G>A" "" "pathogenic (recessive)" ""
"0000938626" "0" "50" "1" "94522248" "94522248" "subst" "0" "01251" "ABCA4_000741" "g.94522248C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94056692C>T" "" "VUS" ""
"0000938627" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000938628" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01251" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000938629" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01251" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000938630" "2" "70" "1" "94466624" "94466624" "subst" "0.0014345" "01251" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94001068C>T" "" "likely pathogenic (recessive)" ""
"0000938631" "2" "90" "1" "94496666" "94496666" "subst" "0.000219568" "01251" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94031110G>A" "" "pathogenic (recessive)" ""
"0000938632" "0" "50" "1" "94496509" "94496509" "subst" "0.00475243" "01251" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94030953C>T" "" "VUS" ""
"0000938633" "0" "90" "1" "94466628" "94466628" "subst" "0.000109748" "01251" "ABCA4_000094" "g.94466628G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94001072G>A" "" "pathogenic (recessive)" ""
"0000938634" "1" "70" "1" "94466624" "94466624" "subst" "0.0014345" "01251" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94001068C>T" "" "likely pathogenic (recessive)" ""
"0000938635" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000938636" "3" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01251" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000938637" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01251" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000938638" "3" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01251" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000938639" "3" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01251" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000938640" "0" "50" "1" "94502899" "94502899" "del" "0" "01251" "ABCA4_000920" "g.94502899del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94037343del" "" "VUS" ""
"0000938641" "3" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01251" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000938642" "0" "50" "1" "94496679" "94496679" "subst" "0" "01251" "ABCA4_001844" "g.94496679G>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94031123G>T" "" "VUS" ""
"0000938643" "0" "50" "1" "94517195" "94517195" "subst" "4.06207E-6" "01251" "ABCA4_001999" "g.94517195C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94051639C>T" "" "VUS" ""
"0000938644" "0" "50" "1" "94506943" "94506943" "subst" "8.12183E-6" "01251" "ABCA4_001061" "g.94506943A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94041387A>G" "" "VUS" ""
"0000938645" "3" "90" "1" "94473278" "94473278" "del" "3.25908E-5" "01251" "ABCA4_000392" "g.94473278del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94007722del" "" "pathogenic (recessive)" ""
"0000938646" "1" "50" "1" "94502756" "94502756" "subst" "0.000422575" "01251" "ABCA4_000032" "g.94502756G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94037200G>A" "" "VUS" ""
"0000938647" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000938648" "2" "90" "1" "94492937" "94492937" "subst" "0" "01251" "ABCA4_000529" "g.94492937G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94027381G>A" "" "pathogenic (recessive)" ""
"0000938649" "3" "90" "1" "94473278" "94473278" "del" "3.25908E-5" "01251" "ABCA4_000392" "g.94473278del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94007722del" "" "pathogenic (recessive)" ""
"0000938650" "2" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01251" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000938651" "0" "90" "1" "94496547" "94496547" "subst" "1.21904E-5" "01251" "ABCA4_000559" "g.94496547C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94030991C>T" "" "pathogenic (recessive)" ""
"0000938652" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000938653" "2" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01251" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000938654" "0" "70" "1" "94466624" "94466624" "subst" "0.0014345" "01251" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94001068C>T" "" "likely pathogenic (recessive)" ""
"0000938655" "3" "90" "1" "94497360" "94497360" "subst" "4.0949E-6" "01251" "ABCA4_000575" "g.94497360G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94031804G>A" "" "pathogenic (recessive)" ""
"0000938656" "1" "70" "1" "94466624" "94466624" "subst" "0.0014345" "01251" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94001068C>T" "" "likely pathogenic (recessive)" ""
"0000938657" "2" "50" "1" "94490509" "94490605" "del" "0" "01251" "NPHS2_000000" "g.(94488975_94490509)_(94490605_94495000)del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.(94023419_94024953)_(94025049_94029444)del" "" "VUS" ""
"0000938658" "3" "90" "1" "94546118" "94546118" "subst" "8.13326E-6" "01251" "ABCA4_000082" "g.94546118A>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94080562A>C" "" "pathogenic (recessive)" ""
"0000938659" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01251" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000938660" "0" "90" "1" "94466422" "94466422" "subst" "2.43651E-5" "01251" "ABCA4_000817" "g.94466422C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94000866C>T" "" "pathogenic (recessive)" ""
"0000938661" "0" "90" "1" "94471065" "94471065" "subst" "0.000194997" "01251" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94005509G>A" "" "pathogenic (recessive)" ""
"0000938662" "0" "50" "1" "94496509" "94496509" "subst" "0.00475243" "01251" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94030953C>T" "" "VUS" ""
"0000938663" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01251" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000938664" "0" "90" "1" "94508353" "94508353" "subst" "2.8431E-5" "01251" "ABCA4_000141" "g.94508353G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94042797G>A" "" "pathogenic (recessive)" ""
"0000938665" "0" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01251" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic (recessive)" ""
"0000938666" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01251" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000938667" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000938668" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01251" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000938669" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000938670" "1" "90" "1" "94471055" "94471055" "subst" "0.00035346" "01251" "ABCA4_000029" "g.94471055C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94005499C>T" "" "pathogenic (recessive)" ""
"0000938671" "2" "50" "1" "94522365" "94522365" "subst" "4.38331E-6" "01251" "ABCA4_002714" "g.94522365A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94056809A>G" "" "VUS" ""
"0000938672" "0" "90" "1" "94486934" "94486934" "del" "1.62529E-5" "01251" "ABCA4_001745" "g.94486934del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94021378del" "" "pathogenic (recessive)" ""
"0000938673" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01251" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000938674" "0" "90" "1" "94476351" "94476351" "subst" "0.000296608" "01251" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "pathogenic (recessive)" ""
"0000938675" "0" "70" "1" "94476890" "94476890" "subst" "4.06227E-6" "01251" "ABCA4_000434" "g.94476890G>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94011334G>C" "" "likely pathogenic (recessive)" ""
"0000938676" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01251" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000938677" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000938678" "3" "50" "1" "94463634" "94463634" "subst" "0" "01251" "ABCA4_002600" "g.94463634A>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.93998078A>C" "" "VUS" ""
"0000938679" "0" "90" "1" "94486895" "94486895" "subst" "3.24923E-5" "01251" "ABCA4_000484" "g.94486895C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94021339C>T" "" "pathogenic (recessive)" ""
"0000938680" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000938681" "2" "50" "1" "94495000" "94495983" "del" "0" "01251" "ABCA4_002656" "g.(94495188_94495983)_(94490605_94495000)del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.(94029632_94030427)_(94025049_94029444)del" "" "VUS" ""
"0000938682" "2" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01251" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000938683" "2" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01251" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000938684" "3" "90" "1" "94512499" "94512499" "subst" "0.000130029" "01251" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94046943T>C" "" "pathogenic (recessive)" ""
"0000938685" "2" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01251" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000938686" "2" "90" "1" "94473278" "94473278" "del" "3.25908E-5" "01251" "ABCA4_000392" "g.94473278del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94007722del" "" "pathogenic (recessive)" ""
"0000938687" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000938688" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01251" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000938689" "0" "50" "1" "94458393" "94505684" "del" "0" "01251" "ABCA4_002595" "g.(?_94458393)_(94505684_94508316)del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.(?_93992837)_(94040128_94042760)del" "" "VUS" ""
"0000938690" "0" "90" "1" "94467481" "94467481" "subst" "0" "01251" "ABCA4_001417" "g.94467481C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94001925C>T" "" "pathogenic (recessive)" ""
"0000938691" "3" "70" "1" "94546099" "94546099" "subst" "0" "01251" "ABCA4_001389" "g.94546099T>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94080543T>C" "" "likely pathogenic (recessive)" ""
"0000938692" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01251" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000938693" "0" "50" "1" "94508356" "94508356" "subst" "0" "01251" "ABCA4_002683" "g.94508356T>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94042800T>C" "" "VUS" ""
"0000938694" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01251" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000938695" "0" "90" "1" "94496666" "94496666" "subst" "0.000219568" "01251" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "pathogenic (recessive)" ""
"0000938696" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01251" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000938697" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000938698" "2" "90" "1" "94476351" "94476351" "subst" "0.000296608" "01251" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94010795C>T" "" "pathogenic (recessive)" ""
"0000938699" "2" "90" "1" "94496666" "94496666" "subst" "0.000219568" "01251" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94031110G>A" "" "pathogenic (recessive)" ""
"0000938700" "0" "90" "1" "94488941" "94488941" "subst" "4.09836E-6" "01251" "ABCA4_000127" "g.94488941C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94023385C>T" "" "pathogenic (recessive)" ""
"0000938701" "0" "90" "1" "94467481" "94467481" "subst" "0" "01251" "ABCA4_001417" "g.94467481C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94001925C>T" "" "pathogenic (recessive)" ""
"0000938702" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000938703" "1" "90" "1" "94486896" "94486896" "subst" "3.65562E-5" "01251" "ABCA4_000085" "g.94486896G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94021340G>A" "" "pathogenic (recessive)" ""
"0000938704" "2" "90" "1" "94467467" "94467467" "subst" "4.06164E-6" "01251" "ABCA4_000780" "g.94467467G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94001911G>A" "" "pathogenic (recessive)" ""
"0000938705" "3" "90" "1" "94528251" "94528251" "subst" "2.84824E-5" "01251" "ABCA4_000281" "g.94528251C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94062695C>T" "" "pathogenic (recessive)" ""
"0000938706" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000938707" "0" "50" "1" "94506803" "94506803" "del" "0" "01251" "ABCA4_002679" "g.94506803del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94041247del" "" "VUS" ""
"0000938708" "0" "90" "1" "94508322" "94508322" "subst" "1.62513E-5" "01251" "ABCA4_000128" "g.94508322C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94042766C>T" "" "pathogenic (recessive)" ""
"0000938709" "2" "90" "1" "94510253" "94510253" "subst" "0.000247694" "01251" "ABCA4_000108" "g.94510253A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94044697A>G" "" "pathogenic (recessive)" ""
"0000938710" "3" "90" "1" "94564484" "94564484" "subst" "0.000110199" "01251" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94098928G>A" "" "pathogenic (recessive)" ""
"0000938711" "0" "90" "1" "94471055" "94471055" "subst" "0.00035346" "01251" "ABCA4_000029" "g.94471055C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94005499C>T" "" "pathogenic (recessive)" ""
"0000938712" "3" "50" "1" "94506878" "94506878" "subst" "4.06081E-6" "01251" "ABCA4_001901" "g.94506878T>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94041322T>C" "" "VUS" ""
"0000938713" "1" "70" "1" "94466624" "94466624" "subst" "0.0014345" "01251" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94001068C>T" "" "likely pathogenic (recessive)" ""
"0000938714" "2" "90" "1" "94476351" "94476351" "subst" "0.000296608" "01251" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94010795C>T" "" "pathogenic (recessive)" ""
"0000938715" "0" "30" "1" "94505604" "94505604" "subst" "0.00645586" "01251" "ABCA4_000092" "g.94505604A>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94040048A>C" "" "likely benign" ""
"0000938716" "1" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01251" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000938717" "2" "90" "1" "94485137" "94485137" "subst" "0" "01251" "ABCA4_000464" "g.94485137C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94019581C>T" "" "pathogenic (recessive)" ""
"0000938718" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000938719" "0" "90" "1" "94471055" "94471055" "subst" "0.00035346" "01251" "ABCA4_000029" "g.94471055C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94005499C>T" "" "pathogenic (recessive)" ""
"0000938720" "0" "50" "1" "94488939" "94488939" "subst" "0" "01251" "ABCA4_002647" "g.94488939T>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94023383T>G" "" "VUS" ""
"0000938721" "3" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01251" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000938722" "3" "90" "1" "94473797" "94473797" "del" "0" "01251" "ABCA4_000401" "g.94473797del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94008241del" "" "pathogenic (recessive)" ""
"0000938723" "3" "70" "1" "94466391" "94467549" "del" "0" "01251" "ABCA4_002274" "g.(94463667_94466391)_(94467549_94470996)del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.(93998111_94000835)_(94001993_94005440)del" "" "likely pathogenic (recessive)" ""
"0000938724" "3" "50" "1" "94476817" "94488975" "dup" "0" "01251" "ABCA4_002622" "g.(94476486_94476817)_(94488975_94490509)dup" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.(94010930_94011261)_(94023419_94024953)dup" "" "VUS" ""
"0000938725" "3" "70" "1" "94466391" "94467549" "del" "0" "01251" "ABCA4_002274" "g.(94463667_94466391)_(94467549_94470996)del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.(93998111_94000835)_(94001993_94005440)del" "" "likely pathogenic (recessive)" ""
"0000938726" "1" "50" "1" "94496509" "94496509" "subst" "0.00475243" "01251" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94030953C>T" "" "VUS" ""
"0000938727" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000938728" "2" "90" "1" "94495083" "94495083" "subst" "0.000124542" "01251" "ABCA4_000542" "g.94495083G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94029527G>A" "" "pathogenic (recessive)" ""
"0000938729" "2" "90" "1" "94495083" "94495083" "subst" "0.000124542" "01251" "ABCA4_000542" "g.94495083G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94029527G>A" "" "pathogenic (recessive)" ""
"0000938730" "0" "50" "1" "94490543" "94490543" "subst" "0" "01251" "ABCA4_002653" "g.94490543A>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94024987A>C" "" "VUS" ""
"0000938731" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000938732" "2" "90" "1" "94476351" "94476351" "subst" "0.000296608" "01251" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94010795C>T" "" "pathogenic (recessive)" ""
"0000938733" "0" "50" "1" "94502867" "94502867" "subst" "0" "01251" "ABCA4_002674" "g.94502867A>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94037311A>C" "" "VUS" ""
"0000938734" "0" "50" "1" "94496509" "94496509" "subst" "0.00475243" "01251" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94030953C>T" "" "VUS" ""
"0000938735" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01251" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000938736" "0" "90" "1" "94496008" "94496008" "subst" "2.03056E-5" "01251" "ABCA4_000148" "g.94496008C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94030452C>T" "" "pathogenic (recessive)" ""
"0000938737" "0" "70" "1" "94466391" "94467549" "del" "0" "01251" "ABCA4_002274" "g.(94463667_94466391)_(94467549_94470996)del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.(93998111_94000835)_(94001993_94005440)del" "" "likely pathogenic (recessive)" ""
"0000938738" "0" "50" "1" "94474325" "94474328" "delins" "0" "01251" "ABCA4_002614" "g.94474325_94474328delinsACTC" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94008769_94008772delinsACTC" "" "VUS" ""
"0000938739" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01251" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000938740" "3" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01251" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000938741" "3" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01251" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000938742" "3" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01251" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000938743" "3" "90" "1" "94577010" "94577010" "subst" "1.22004E-5" "01251" "ABCA4_000224" "g.94577010T>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94111454T>C" "" "pathogenic (recessive)" ""
"0000938744" "2" "50" "1" "94526164" "94526164" "subst" "0" "01251" "ABCA4_002716" "g.94526164A>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94060608A>T" "" "VUS" ""
"0000938745" "0" "90" "1" "94506901" "94506901" "subst" "4.06138E-6" "01251" "ABCA4_000622" "g.94506901C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94041345C>T" "" "pathogenic (recessive)" ""
"0000938746" "2" "90" "1" "94546116" "94546116" "subst" "0" "01251" "ABCA4_001319" "g.94546116C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94080560C>T" "" "pathogenic (recessive)" ""
"0000938747" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000938748" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000938749" "0" "50" "1" "94496509" "94496509" "subst" "0.00475243" "01251" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94030953C>T" "" "VUS" ""
"0000938750" "1" "90" "1" "94471055" "94471055" "subst" "0.00035346" "01251" "ABCA4_000029" "g.94471055C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94005499C>T" "" "pathogenic (recessive)" ""
"0000938751" "2" "90" "1" "94509026" "94509026" "subst" "4.06497E-5" "01251" "ABCA4_000660" "g.94509026G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94043470G>A" "" "pathogenic (recessive)" ""
"0000938752" "0" "50" "1" "94508427" "94508427" "subst" "4.06101E-6" "01251" "ABCA4_002686" "g.94508427G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94042871G>A" "" "VUS" ""
"0000938753" "2" "90" "1" "94496571" "94496571" "subst" "4.06174E-6" "01251" "ABCA4_000111" "g.94496571G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94031015G>A" "" "pathogenic (recessive)" ""
"0000938754" "0" "70" "1" "94480227" "94480227" "subst" "8.12222E-6" "01251" "ABCA4_001700" "g.94480227T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94014671T>A" "" "likely pathogenic (recessive)" ""
"0000938755" "0" "70" "1" "94466624" "94466624" "subst" "0.0014345" "01251" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94001068C>T" "" "likely pathogenic (recessive)" ""
"0000938756" "0" "90" "1" "94476351" "94476351" "subst" "0.000296608" "01251" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "pathogenic (recessive)" ""
"0000938757" "0" "90" "1" "94471065" "94471065" "subst" "0.000194997" "01251" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94005509G>A" "" "pathogenic (recessive)" ""
"0000938758" "0" "90" "1" "94466456" "94466456" "subst" "8.1217E-6" "01251" "ABCA4_000181" "g.94466456G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94000900G>A" "" "pathogenic (recessive)" ""
"0000938759" "1" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01251" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000938760" "2" "90" "1" "94497588" "94497588" "subst" "4.153E-6" "01251" "ABCA4_000049" "g.94497588G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94032032G>A" "" "pathogenic (recessive)" ""
"0000938761" "0" "50" "1" "94487410" "94487410" "subst" "2.84257E-5" "01251" "ABCA4_001357" "g.94487410C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94021854C>T" "" "VUS" ""
"0000938762" "0" "90" "1" "94487251" "94487251" "subst" "2.85679E-5" "01251" "ABCA4_000490" "g.94487251G>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94021695G>T" "" "pathogenic (recessive)" ""
"0000938763" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000938764" "0" "90" "1" "94476351" "94476351" "subst" "0.000296608" "01251" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "pathogenic (recessive)" ""
"0000938765" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000938766" "0" "70" "1" "94487436" "94487436" "subst" "2.03047E-5" "01251" "ABCA4_000498" "g.94487436A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94021880A>G" "" "likely pathogenic (recessive)" ""
"0000938767" "0" "50" "1" "94463631" "94463631" "subst" "0" "01251" "ABCA4_000810" "g.94463631T>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.93998075T>C" "" "VUS" ""
"0000938768" "0" "90" "1" "94546118" "94546118" "subst" "8.13326E-6" "01251" "ABCA4_000082" "g.94546118A>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94080562A>C" "" "pathogenic (recessive)" ""
"0000938769" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01251" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000938770" "2" "90" "1" "94471026" "94471026" "subst" "1.21925E-5" "01251" "ABCA4_000791" "g.94471026G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94005470G>A" "" "pathogenic (recessive)" ""
"0000938771" "2" "90" "1" "94480244" "94480244" "subst" "4.06128E-6" "01251" "ABCA4_001399" "g.94480244C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94014688C>T" "" "pathogenic (recessive)" ""
"0000938772" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01251" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000938773" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01251" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000938774" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01251" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000938775" "2" "90" "1" "94485165" "94485165" "subst" "0" "01251" "ABCA4_001016" "g.94485165G>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94019609G>C" "" "pathogenic (recessive)" ""
"0000938776" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01251" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000938777" "0" "90" "1" "94528251" "94528251" "subst" "2.84824E-5" "01251" "ABCA4_000281" "g.94528251C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94062695C>T" "" "pathogenic (recessive)" ""
"0000938778" "0" "90" "1" "94508353" "94508353" "subst" "2.8431E-5" "01251" "ABCA4_000141" "g.94508353G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94042797G>A" "" "pathogenic (recessive)" ""
"0000938779" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01251" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000938780" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01251" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000938781" "2" "90" "1" "94495078" "94495078" "subst" "8.37044E-6" "01251" "ABCA4_000042" "g.94495078A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94029522A>G" "" "pathogenic (recessive)" ""
"0000938782" "0" "90" "1" "94467506" "94467506" "subst" "3.24913E-5" "01251" "ABCA4_000785" "g.94467506C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94001950C>T" "" "pathogenic (recessive)" ""
"0000938783" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01251" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000938784" "2" "50" "1" "94496509" "94496509" "subst" "0.00475243" "01251" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94030953C>T" "" "VUS" ""
"0000938785" "2" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01251" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000938786" "3" "50" "1" "94496574" "94496574" "subst" "4.06187E-6" "01251" "ABCA4_002664" "g.94496574C>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94031018C>A" "" "VUS" ""
"0000938787" "0" "90" "1" "94471055" "94471055" "subst" "0.00035346" "01251" "ABCA4_000029" "g.94471055C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94005499C>T" "" "pathogenic (recessive)" ""
"0000938788" "0" "70" "1" "94476875" "94476875" "subst" "1.62489E-5" "01251" "ABCA4_001280" "g.94476875G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94011319G>A" "" "likely pathogenic (recessive)" ""
"0000938789" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01251" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000938790" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01251" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000938791" "0" "50" "1" "94506956" "94506956" "subst" "0" "01251" "ABCA4_002682" "g.94506956T>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94041400T>C" "" "VUS" ""
"0000938792" "0" "50" "1" "94488959" "94488959" "subst" "0" "01251" "ABCA4_002648" "g.94488959G>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94023403G>T" "" "VUS" ""
"0000938793" "0" "50" "1" "94490557" "94490557" "subst" "0" "01251" "ABCA4_002654" "g.94490557G>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94025001G>T" "" "VUS" ""
"0000938794" "0" "90" "1" "94476351" "94476351" "subst" "0.000296608" "01251" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "pathogenic (recessive)" ""
"0000938795" "0" "90" "1" "94466559" "94466559" "subst" "0" "01251" "ABCA4_000833" "g.94466559T>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94001003T>C" "" "pathogenic (recessive)" ""
"0000938796" "0" "90" "1" "94485279" "94485293" "del" "0" "01251" "ABCA4_000476" "g.94485279_94485293del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94019723_94019737del" "" "pathogenic (recessive)" ""
"0000938797" "0" "50" "1" "94480249" "94480249" "subst" "0" "01251" "ABCA4_002628" "g.94480249G>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94014693G>T" "" "VUS" ""
"0000938798" "0" "90" "1" "94481294" "94481294" "subst" "0" "01251" "ABCA4_000110" "g.94481294C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94015738C>T" "" "pathogenic (recessive)" ""
"0000938799" "3" "90" "1" "94544895" "94544895" "subst" "1.62455E-5" "01251" "ABCA4_000329" "g.94544895G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94079339G>A" "" "pathogenic (recessive)" ""
"0000938800" "0" "90" "1" "94473278" "94473278" "del" "3.25908E-5" "01251" "ABCA4_000392" "g.94473278del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94007722del" "" "pathogenic (recessive)" ""
"0000938801" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01251" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000938802" "2" "90" "1" "94508435" "94508436" "dup" "0" "01251" "ABCA4_000998" "g.94508435_94508436dup" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94042879_94042880dup" "" "pathogenic (recessive)" ""
"0000938803" "2" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01251" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000938804" "3" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000938805" "2" "90" "1" "94508435" "94508436" "dup" "0" "01251" "ABCA4_000998" "g.94508435_94508436dup" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94042879_94042880dup" "" "pathogenic (recessive)" ""
"0000938806" "2" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01251" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000938807" "0" "90" "1" "94487401" "94487401" "subst" "0" "01251" "ABCA4_000495" "g.94487401C>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94021845C>A" "" "pathogenic (recessive)" ""
"0000938808" "0" "90" "1" "94471037" "94471037" "subst" "0" "01251" "ABCA4_001062" "g.94471037T>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94005481T>C" "" "pathogenic (recessive)" ""
"0000938809" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000938810" "0" "50" "1" "94512519" "94512519" "subst" "0" "01251" "ABCA4_002699" "g.94512519G>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94046963G>C" "" "VUS" ""
"0000938811" "0" "30" "1" "94463617" "94463617" "subst" "0.0109114" "01251" "ABCA4_000013" "g.94463617C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.93998061C>T" "" "likely benign" ""
"0000938812" "2" "70" "1" "94466624" "94466624" "subst" "0.0014345" "01251" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94001068C>T" "" "likely pathogenic (recessive)" ""
"0000938813" "0" "90" "1" "94502760" "94502760" "subst" "4.0626E-6" "01251" "ABCA4_000599" "g.94502760C>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94037204C>A" "" "pathogenic (recessive)" ""
"0000938814" "3" "50" "1" "94502296" "94502296" "subst" "0" "01251" "ABCA4_002670" "g.94502296C>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94036740C>A" "" "VUS" ""
"0000938815" "2" "90" "1" "94490577" "94490577" "subst" "0" "01251" "ABCA4_001791" "g.94490577G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94025021G>A" "" "pathogenic (recessive)" ""
"0000938816" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000938817" "0" "70" "1" "94485221" "94485221" "subst" "0" "01251" "ABCA4_000471" "g.94485221G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94019665G>A" "" "likely pathogenic (recessive)" ""
"0000938818" "0" "90" "1" "94476351" "94476351" "subst" "0.000296608" "01251" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "pathogenic (recessive)" ""
"0000938819" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000938820" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000938821" "3" "90" "1" "94473278" "94473278" "del" "3.25908E-5" "01251" "ABCA4_000392" "g.94473278del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94007722del" "" "pathogenic (recessive)" ""
"0000938822" "2" "90" "1" "94546047" "94546047" "subst" "0" "01251" "ABCA4_000150" "g.94546047A>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94080491A>T" "" "pathogenic (recessive)" ""
"0000938823" "2" "70" "1" "94466624" "94466624" "subst" "0.0014345" "01251" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94001068C>T" "" "likely pathogenic (recessive)" ""
"0000938824" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000938825" "3" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01251" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000938826" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01251" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000938827" "3" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01251" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000938828" "2" "90" "1" "94495083" "94495083" "subst" "0.000124542" "01251" "ABCA4_000542" "g.94495083G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94029527G>A" "" "pathogenic (recessive)" ""
"0000938829" "2" "90" "1" "94508322" "94508322" "subst" "1.62513E-5" "01251" "ABCA4_000128" "g.94508322C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94042766C>T" "" "pathogenic (recessive)" ""
"0000938830" "0" "90" "1" "94471056" "94471056" "subst" "2.84398E-5" "01251" "ABCA4_000050" "g.94471056G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94005500G>A" "" "pathogenic (recessive)" ""
"0000938831" "2" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01251" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000938832" "2" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01251" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000938833" "0" "70" "1" "94506935" "94506935" "subst" "4.06098E-6" "01251" "ABCA4_000626" "g.94506935G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94041379G>A" "" "likely pathogenic (recessive)" ""
"0000938834" "2" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01251" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000938835" "2" "70" "1" "94466624" "94466624" "subst" "0.0014345" "01251" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94001068C>T" "" "likely pathogenic (recessive)" ""
"0000938836" "2" "50" "1" "94467413" "94471137" "del" "0" "01251" "ABCA4_002602" "g.(94466662_94467413)_(94471137_94473191)del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.(94001106_94001857)_(94005581_94007635)del" "" "VUS" ""
"0000938837" "2" "50" "1" "94480208" "94480208" "subst" "4.06138E-6" "01251" "ABCA4_001697" "g.94480208A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94014652A>G" "" "VUS" ""
"0000938838" "2" "90" "1" "94476351" "94476351" "subst" "0.000296608" "01251" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94010795C>T" "" "pathogenic (recessive)" ""
"0000938839" "0" "70" "1" "94466624" "94466624" "subst" "0.0014345" "01251" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94001068C>T" "" "likely pathogenic (recessive)" ""
"0000938840" "0" "90" "1" "94471046" "94471046" "subst" "0" "01251" "ABCA4_000793" "g.94471046A>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94005490A>C" "" "pathogenic (recessive)" ""
"0000938841" "2" "90" "1" "94495078" "94495078" "subst" "8.37044E-6" "01251" "ABCA4_000042" "g.94495078A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94029522A>G" "" "pathogenic (recessive)" ""
"0000938842" "2" "90" "1" "94471055" "94471055" "subst" "0.00035346" "01251" "ABCA4_000029" "g.94471055C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94005499C>T" "" "pathogenic (recessive)" ""
"0000938843" "3" "90" "1" "94496666" "94496666" "subst" "0.000219568" "01251" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "pathogenic (recessive)" ""
"0000938844" "2" "90" "1" "94497392" "94497392" "subst" "0" "01251" "ABCA4_000577" "g.94497392G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94031836G>A" "" "pathogenic (recessive)" ""
"0000938845" "2" "90" "1" "94466559" "94466559" "subst" "0" "01251" "ABCA4_000833" "g.94466559T>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94001003T>C" "" "pathogenic (recessive)" ""
"0000938846" "2" "90" "1" "94466559" "94466559" "subst" "0" "01251" "ABCA4_000833" "g.94466559T>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94001003T>C" "" "pathogenic (recessive)" ""
"0000938847" "2" "90" "1" "94466559" "94466559" "subst" "0" "01251" "ABCA4_000833" "g.94466559T>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94001003T>C" "" "pathogenic (recessive)" ""
"0000938848" "3" "90" "1" "94546118" "94546118" "subst" "8.13326E-6" "01251" "ABCA4_000082" "g.94546118A>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94080562A>C" "" "pathogenic (recessive)" ""
"0000938849" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000938850" "1" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01251" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000938851" "3" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01251" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000938852" "3" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01251" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000938853" "0" "70" "1" "94476890" "94476890" "subst" "4.06227E-6" "01251" "ABCA4_000434" "g.94476890G>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94011334G>C" "" "likely pathogenic (recessive)" ""
"0000938854" "0" "90" "1" "94466556" "94466556" "subst" "4.06164E-6" "01251" "ABCA4_000831" "g.94466556G>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94001000G>C" "" "pathogenic (recessive)" ""
"0000938855" "3" "90" "1" "94564463" "94564463" "subst" "0" "01251" "ABCA4_000381" "g.94564463T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94098907T>A" "" "pathogenic (recessive)" ""
"0000938856" "0" "70" "1" "94461752" "94461752" "subst" "0" "01251" "ABCA4_000849" "g.94461752C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.93996196C>G" "" "likely pathogenic (recessive)" ""
"0000938857" "3" "90" "1" "94466615" "94466615" "subst" "0" "01251" "ABCA4_000836" "g.94466615C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94001059C>T" "" "pathogenic (recessive)" ""
"0000938858" "2" "90" "1" "94471065" "94471065" "subst" "0.000194997" "01251" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94005509G>A" "" "pathogenic (recessive)" ""
"0000938859" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000938860" "3" "90" "1" "94466422" "94466422" "subst" "2.43651E-5" "01251" "ABCA4_000817" "g.94466422C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94000866C>T" "" "pathogenic (recessive)" ""
"0000938861" "2" "70" "1" "94506935" "94506935" "subst" "4.06098E-6" "01251" "ABCA4_000626" "g.94506935G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94041379G>A" "" "likely pathogenic (recessive)" ""
"0000938862" "0" "90" "1" "94471056" "94471056" "subst" "2.84398E-5" "01251" "ABCA4_000050" "g.94471056G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94005500G>A" "" "pathogenic (recessive)" ""
"0000938863" "2" "50" "1" "94471012" "94471012" "del" "0" "01251" "ABCA4_002604" "g.94471012del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94005456del" "" "VUS" ""
"0000938864" "2" "50" "1" "94471012" "94471012" "del" "0" "01251" "ABCA4_002604" "g.94471012del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94005456del" "" "VUS" ""
"0000938865" "2" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01251" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000938866" "2" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01251" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000938867" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01251" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000938868" "3" "90" "1" "94473797" "94473797" "del" "0" "01251" "ABCA4_000401" "g.94473797del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94008241del" "" "pathogenic (recessive)" ""
"0000938869" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000938870" "2" "90" "1" "94471055" "94471055" "subst" "0.00035346" "01251" "ABCA4_000029" "g.94471055C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94005499C>T" "" "pathogenic (recessive)" ""
"0000938871" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000938872" "1" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01251" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic (recessive)" ""
"0000938873" "2" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01251" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000938874" "2" "90" "1" "94528806" "94528806" "subst" "0.000150298" "01251" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94063250A>G" "" "pathogenic (recessive)" ""
"0000938875" "2" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01251" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic (recessive)" ""
"0000938876" "0" "90" "1" "94528137" "94528137" "subst" "2.03363E-5" "01251" "ABCA4_000774" "g.94528137C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94062581C>T" "" "pathogenic (recessive)" ""
"0000938877" "2" "70" "1" "94480175" "94480175" "subst" "0" "01251" "ABCA4_001694" "g.94480175A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94014619A>G" "" "likely pathogenic (recessive)" ""
"0000938878" "2" "90" "1" "94496666" "94496666" "subst" "0.000219568" "01251" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94031110G>A" "" "pathogenic (recessive)" ""
"0000938879" "0" "90" "1" "94485279" "94485293" "del" "0" "01251" "ABCA4_000476" "g.94485279_94485293del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94019723_94019737del" "" "pathogenic (recessive)" ""
"0000938880" "0" "90" "1" "94476351" "94476351" "subst" "0.000296608" "01251" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "pathogenic (recessive)" ""
"0000938881" "3" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000938882" "3" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000938883" "2" "90" "1" "94471065" "94471065" "subst" "0.000194997" "01251" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94005509G>A" "" "pathogenic (recessive)" ""
"0000938884" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000938885" "0" "90" "1" "94471065" "94471065" "subst" "0.000194997" "01251" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94005509G>A" "" "pathogenic (recessive)" ""
"0000938886" "0" "90" "1" "94476351" "94476351" "subst" "0.000296608" "01251" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "pathogenic (recessive)" ""
"0000938887" "1" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01251" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic (recessive)" ""
"0000938888" "2" "90" "1" "94496571" "94496571" "subst" "4.06174E-6" "01251" "ABCA4_000111" "g.94496571G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94031015G>A" "" "pathogenic (recessive)" ""
"0000938889" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01251" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000938890" "2" "90" "1" "94473266" "94473266" "subst" "8.14677E-6" "01251" "ABCA4_000389" "g.94473266C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94007710C>T" "" "pathogenic (recessive)" ""
"0000938891" "2" "90" "1" "94496666" "94496666" "subst" "0.000219568" "01251" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94031110G>A" "" "pathogenic (recessive)" ""
"0000938892" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000938893" "0" "70" "1" "94520684" "94520684" "del" "0" "01251" "ABCA4_000709" "g.94520684del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94055128del" "" "likely pathogenic (recessive)" ""
"0000938894" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01251" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000938895" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000938896" "0" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01251" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic (recessive)" ""
"0000938897" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01251" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000938898" "3" "90" "1" "94546118" "94546118" "subst" "8.13326E-6" "01251" "ABCA4_000082" "g.94546118A>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94080562A>C" "" "pathogenic (recessive)" ""
"0000938899" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000938900" "0" "50" "1" "94502867" "94502867" "subst" "0" "01251" "ABCA4_002674" "g.94502867A>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94037311A>C" "" "VUS" ""
"0000938901" "2" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01251" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000938902" "2" "90" "1" "94466556" "94466556" "subst" "4.06164E-6" "01251" "ABCA4_000831" "g.94466556G>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94001000G>C" "" "pathogenic (recessive)" ""
"0000938903" "0" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01251" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic (recessive)" ""
"0000938904" "0" "90" "1" "94471065" "94471065" "subst" "0.000194997" "01251" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94005509G>A" "" "pathogenic (recessive)" ""
"0000938905" "0" "90" "1" "94496666" "94496666" "subst" "0.000219568" "01251" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "pathogenic (recessive)" ""
"0000938906" "0" "90" "1" "94471037" "94471037" "subst" "0" "01251" "ABCA4_001062" "g.94471037T>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94005481T>C" "" "pathogenic (recessive)" ""
"0000938907" "0" "50" "1" "94517195" "94517195" "subst" "4.06207E-6" "01251" "ABCA4_001999" "g.94517195C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94051639C>T" "" "VUS" ""
"0000938908" "0" "90" "1" "94471032" "94471032" "subst" "1.62553E-5" "01251" "ABCA4_000792" "g.94471032G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94005476G>A" "" "pathogenic (recessive)" ""
"0000938909" "2" "90" "1" "94476351" "94476351" "subst" "0.000296608" "01251" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94010795C>T" "" "pathogenic (recessive)" ""
"0000938910" "2" "70" "1" "94481296" "94481296" "subst" "4.07329E-6" "01251" "ABCA4_001532" "g.94481296C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94015740C>T" "" "likely pathogenic (recessive)" ""
"0000938911" "2" "70" "1" "94476893" "94476893" "subst" "0" "01251" "ABCA4_001059" "g.94476893G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94011337G>A" "" "likely pathogenic (recessive)" ""
"0000938912" "1" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01251" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "no variant 2nd chromosome" "Germline" "yes" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000938913" "2" "70" "1" "94546265" "94546265" "subst" "2.04063E-5" "01251" "ABCA4_000355" "g.94546265G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94080709G>A" "" "likely pathogenic (recessive)" ""
"0000938914" "0" "90" "1" "94520690" "94520690" "subst" "2.03102E-5" "01251" "ABCA4_000149" "g.94520690C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94055134C>T" "" "pathogenic (recessive)" ""
"0000938915" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01251" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000938916" "2" "90" "1" "94476351" "94476351" "subst" "0.000296608" "01251" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94010795C>T" "" "pathogenic (recessive)" ""
"0000938917" "0" "50" "1" "94568689" "94568689" "subst" "0" "01251" "ABCA4_002752" "g.94568689A>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94103133A>T" "" "VUS" ""
"0000938918" "2" "90" "1" "94508435" "94508436" "dup" "0" "01251" "ABCA4_000998" "g.94508435_94508436dup" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94042879_94042880dup" "" "pathogenic (recessive)" ""
"0000938919" "0" "90" "1" "94476351" "94476351" "subst" "0.000296608" "01251" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "pathogenic (recessive)" ""
"0000938920" "2" "90" "1" "94546118" "94546118" "subst" "8.13326E-6" "01251" "ABCA4_000082" "g.94546118A>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94080562A>C" "" "pathogenic (recessive)" ""
"0000938921" "0" "90" "1" "94471065" "94471065" "subst" "0.000194997" "01251" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94005509G>A" "" "pathogenic (recessive)" ""
"0000938922" "2" "90" "1" "94496666" "94496666" "subst" "0.000219568" "01251" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94031110G>A" "" "pathogenic (recessive)" ""
"0000938923" "0" "90" "1" "94495001" "94495002" "ins" "0" "01251" "ABCA4_000531" "g.94495001_94495002insG" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94029445_94029446insG" "" "pathogenic (recessive)" ""
"0000938924" "3" "50" "1" "94496577" "94496577" "subst" "0" "01251" "ABCA4_002665" "g.94496577A>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94031021A>T" "" "VUS" ""
"0000938925" "1" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01251" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic (recessive)" ""
"0000938926" "2" "90" "1" "94486896" "94486896" "subst" "3.65562E-5" "01251" "ABCA4_000085" "g.94486896G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94021340G>A" "" "pathogenic (recessive)" ""
"0000938927" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01251" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000938928" "2" "70" "1" "94506805" "94506805" "subst" "2.03051E-5" "01251" "ABCA4_001294" "g.94506805C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94041249C>T" "" "likely pathogenic (recessive)" ""
"0000938929" "3" "50" "1" "94508969" "94508969" "subst" "0" "01251" "ABCA4_002688" "g.94508969G>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94043413G>T" "" "VUS" ""
"0000938930" "3" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01251" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000938931" "1" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01251" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic (recessive)" ""
"0000938932" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000938933" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000938934" "2" "50" "1" "94502908" "94502908" "subst" "0" "01251" "ABCA4_002675" "g.94502908T>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94037352T>C" "" "VUS" ""
"0000938935" "3" "90" "1" "94564484" "94564484" "subst" "0.000110199" "01251" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94098928G>A" "" "pathogenic (recessive)" ""
"0000938936" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01251" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000938937" "0" "50" "1" "94543349" "94543349" "subst" "0" "01251" "ABCA4_002735" "g.94543349T>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94077793T>C" "" "VUS" ""
"0000938938" "0" "90" "1" "94466628" "94466628" "subst" "0.000109748" "01251" "ABCA4_000094" "g.94466628G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94001072G>A" "" "pathogenic (recessive)" ""
"0000938939" "0" "90" "1" "94476351" "94476351" "subst" "0.000296608" "01251" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "pathogenic (recessive)" ""
"0000938940" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000938941" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000938942" "0" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01251" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic (recessive)" ""
"0000938943" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01251" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000938944" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000938945" "1" "70" "1" "94466624" "94466624" "subst" "0.0014345" "01251" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94001068C>T" "" "likely pathogenic (recessive)" ""
"0000938946" "2" "70" "1" "94497334" "94497334" "subst" "0" "01251" "ABCA4_001076" "g.94497334C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94031778C>G" "" "likely pathogenic (recessive)" ""
"0000938947" "2" "90" "1" "94480248" "94480248" "del" "0" "01251" "ABCA4_001056" "g.94480248del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94014692del" "" "pathogenic (recessive)" ""
"0000938948" "0" "70" "1" "94544913" "94544913" "subst" "0" "01251" "ABCA4_000331" "g.94544913G>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94079357G>C" "" "likely pathogenic (recessive)" ""
"0000938949" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000938950" "3" "90" "1" "94495071" "94495071" "subst" "6.39479E-5" "01251" "ABCA4_000997" "g.94495071C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94029515C>T" "" "pathogenic (recessive)" ""
"0000938951" "0" "90" "1" "94466556" "94466556" "subst" "4.06164E-6" "01251" "ABCA4_000831" "g.94466556G>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94001000G>C" "" "pathogenic (recessive)" ""
"0000938952" "2" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01251" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000938953" "2" "70" "1" "94466624" "94466624" "subst" "0.0014345" "01251" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94001068C>T" "" "likely pathogenic (recessive)" ""
"0000938954" "0" "50" "1" "94490506" "94490506" "subst" "0" "01251" "ABCA4_002650" "g.94490506T>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94024950T>G" "" "VUS" ""
"0000938955" "0" "90" "1" "94463488" "94463488" "subst" "5.2803E-5" "01251" "ABCA4_000802" "g.94463488G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.93997932G>A" "" "pathogenic (recessive)" ""
"0000938956" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000938957" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000938958" "2" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01251" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000938959" "3" "90" "1" "94490577" "94490577" "subst" "0" "01251" "ABCA4_001791" "g.94490577G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94025021G>A" "" "pathogenic (recessive)" ""
"0000938960" "3" "50" "1" "94520841" "94520841" "subst" "0" "01251" "ABCA4_002710" "g.94520841C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94055285C>G" "" "VUS" ""
"0000938961" "0" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01251" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic (recessive)" ""
"0000938962" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000938963" "2" "90" "1" "94486794" "94486794" "subst" "0" "01251" "ABCA4_000478" "g.94486794A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94021238A>G" "" "pathogenic (recessive)" ""
"0000938964" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000938965" "0" "50" "1" "94473299" "94473299" "subst" "0" "01251" "ABCA4_002276" "g.94473299A>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94007743A>C" "" "VUS" ""
"0000938966" "2" "70" "1" "94526219" "94526219" "subst" "4.06673E-6" "01251" "ABCA4_000759" "g.94526219C>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94060663C>A" "" "likely pathogenic (recessive)" ""
"0000938967" "2" "90" "1" "94471055" "94471055" "subst" "0.00035346" "01251" "ABCA4_000029" "g.94471055C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94005499C>T" "" "pathogenic (recessive)" ""
"0000938968" "2" "90" "1" "94471055" "94471055" "subst" "0.00035346" "01251" "ABCA4_000029" "g.94471055C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94005499C>T" "" "pathogenic (recessive)" ""
"0000938969" "0" "90" "1" "94506923" "94506923" "subst" "2.43657E-5" "01251" "ABCA4_000012" "g.94506923C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94041367C>T" "" "pathogenic (recessive)" ""
"0000938970" "1" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01251" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "no variant 2nd chromosome" "Germline" "yes" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000938971" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01251" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000938972" "0" "90" "1" "94508997" "94508997" "subst" "0" "01251" "ABCA4_000112" "g.94508997G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94043441G>A" "" "pathogenic (recessive)" ""
"0000938973" "2" "90" "1" "94466422" "94466422" "subst" "2.43651E-5" "01251" "ABCA4_000817" "g.94466422C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94000866C>T" "" "pathogenic (recessive)" ""
"0000938974" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01251" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000938975" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000938976" "2" "90" "1" "94471037" "94471037" "subst" "0" "01251" "ABCA4_001062" "g.94471037T>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94005481T>C" "" "pathogenic (recessive)" ""
"0000938977" "3" "70" "1" "94480235" "94480235" "subst" "8.12236E-6" "01251" "ABCA4_000445" "g.94480235A>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94014679A>T" "" "likely pathogenic (recessive)" ""
"0000938978" "2" "90" "1" "94476942" "94476942" "subst" "0" "01251" "ABCA4_001487" "g.94476942C>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94011386C>A" "" "pathogenic (recessive)" ""
"0000938979" "3" "90" "1" "94578618" "94578618" "subst" "0.000166918" "01251" "ABCA4_000252" "g.94578618C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94113062C>T" "" "pathogenic (recessive)" ""
"0000938980" "0" "50" "1" "94473256" "94473256" "subst" "0" "01251" "ABCA4_001638" "g.94473256G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94007700G>A" "" "VUS" ""
"0000938981" "2" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01251" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000938982" "0" "50" "1" "94490519" "94490519" "subst" "0" "01251" "ABCA4_002652" "g.94490519A>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94024963A>C" "" "VUS" ""
"0000938983" "1" "50" "1" "94510214" "94510214" "subst" "1.21821E-5" "01251" "ABCA4_002693" "g.94510214C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94044658C>T" "" "VUS" ""
"0000938984" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000938985" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000938986" "0" "90" "1" "94495009" "94495009" "del" "0" "01251" "ABCA4_000534" "g.94495009del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94029453del" "" "pathogenic (recessive)" ""
"0000938987" "3" "70" "1" "94502346" "94502346" "subst" "0" "01251" "ABCA4_000593" "g.94502346T>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94036790T>C" "" "likely pathogenic (recessive)" ""
"0000938988" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000938989" "2" "70" "1" "94490550" "94490550" "subst" "0" "01251" "ABCA4_000524" "g.94490550C>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94024994C>A" "" "likely pathogenic (recessive)" ""
"0000938990" "2" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01251" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000938991" "0" "70" "1" "94466624" "94466624" "subst" "0.0014345" "01251" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94001068C>T" "" "likely pathogenic (recessive)" ""
"0000938992" "1" "70" "1" "94466624" "94466624" "subst" "0.0014345" "01251" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94001068C>T" "" "likely pathogenic (recessive)" ""
"0000938993" "2" "50" "1" "94486942" "94486942" "subst" "0" "01251" "ABCA4_002638" "g.94486942C>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94021386C>A" "" "VUS" ""
"0000938994" "2" "90" "1" "94490510" "94490510" "del" "0" "01251" "ABCA4_001457" "g.94490510del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94024954del" "" "pathogenic (recessive)" ""
"0000938995" "2" "90" "1" "94480248" "94480248" "del" "0" "01251" "ABCA4_001056" "g.94480248del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94014692del" "" "pathogenic (recessive)" ""
"0000938996" "3" "90" "1" "94473266" "94473266" "subst" "8.14677E-6" "01251" "ABCA4_000389" "g.94473266C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94007710C>T" "" "pathogenic (recessive)" ""
"0000938997" "3" "90" "1" "94486896" "94486896" "subst" "3.65562E-5" "01251" "ABCA4_000085" "g.94486896G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94021340G>A" "" "pathogenic (recessive)" ""
"0000938998" "3" "90" "1" "94496583" "94496583" "subst" "2.03092E-5" "01251" "ABCA4_000190" "g.94496583A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94031027A>G" "" "pathogenic (recessive)" ""
"0000938999" "3" "90" "1" "94486896" "94486896" "subst" "3.65562E-5" "01251" "ABCA4_000085" "g.94486896G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94021340G>A" "" "pathogenic (recessive)" ""
"0000939000" "2" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01251" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000939001" "2" "90" "1" "94496571" "94496571" "subst" "4.06174E-6" "01251" "ABCA4_000111" "g.94496571G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94031015G>A" "" "pathogenic (recessive)" ""
"0000939002" "3" "70" "1" "94546114" "94546114" "subst" "0" "01251" "ABCA4_000983" "g.94546114T>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94080558T>C" "" "likely pathogenic (recessive)" ""
"0000939003" "2" "70" "1" "94466663" "94466663" "subst" "0" "01251" "ABCA4_001588" "g.94466663T>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94001107T>C" "" "likely pathogenic (recessive)" ""
"0000939004" "2" "90" "1" "94473266" "94473266" "subst" "8.14677E-6" "01251" "ABCA4_000389" "g.94473266C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94007710C>T" "" "pathogenic (recessive)" ""
"0000939005" "2" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01251" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000939006" "1" "50" "1" "94466555" "94466555" "subst" "0" "01251" "ABCA4_002458" "g.94466555T>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94000999T>C" "" "VUS" ""
"0000939007" "2" "90" "1" "94486896" "94486896" "subst" "3.65562E-5" "01251" "ABCA4_000085" "g.94486896G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94021340G>A" "" "pathogenic (recessive)" ""
"0000939008" "0" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01251" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic (recessive)" ""
"0000939009" "2" "90" "1" "94476351" "94476351" "subst" "0.000296608" "01251" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94010795C>T" "" "pathogenic (recessive)" ""
"0000939010" "2" "90" "1" "94463442" "94463442" "subst" "0" "01251" "ABCA4_001199" "g.94463442G>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.93997886G>C" "" "pathogenic (recessive)" ""
"0000939011" "0" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01251" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic (recessive)" ""
"0000939012" "0" "90" "1" "94487443" "94487443" "del" "0" "01251" "ABCA4_000503" "g.94487443del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94021887del" "" "pathogenic (recessive)" ""
"0000939013" "2" "90" "1" "94466426" "94466426" "subst" "1.62433E-5" "01251" "ABCA4_000124" "g.94466426G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94000870G>A" "" "pathogenic (recessive)" ""
"0000939014" "2" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01251" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000939015" "2" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01251" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000939016" "2" "90" "1" "94577010" "94577010" "subst" "1.22004E-5" "01251" "ABCA4_000224" "g.94577010T>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94111454T>C" "" "pathogenic (recessive)" ""
"0000939017" "0" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01251" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic (recessive)" ""
"0000939018" "0" "90" "1" "94471065" "94471065" "subst" "0.000194997" "01251" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94005509G>A" "" "pathogenic (recessive)" ""
"0000939019" "2" "90" "1" "94484001" "94484001" "subst" "0" "01251" "ABCA4_000016" "g.94484001C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94018445C>T" "" "pathogenic (recessive)" ""
"0000939020" "0" "50" "1" "94487404" "94487404" "subst" "0.00244055" "01251" "ABCA4_000497" "g.94487404C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94021848C>T" "" "VUS" ""
"0000939021" "3" "90" "1" "94528132" "94528132" "subst" "4.06835E-6" "01251" "ABCA4_000773" "g.94528132C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94062576C>T" "" "pathogenic (recessive)" ""
"0000939022" "2" "70" "1" "94474368" "94474368" "subst" "4.06128E-6" "01251" "ABCA4_000887" "g.94474368C>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94008812C>A" "" "likely pathogenic (recessive)" ""
"0000939023" "3" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01251" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000939024" "0" "90" "1" "94486896" "94486896" "subst" "3.65562E-5" "01251" "ABCA4_000085" "g.94486896G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94021340G>A" "" "pathogenic (recessive)" ""
"0000939025" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000939026" "0" "90" "1" "94471056" "94471056" "subst" "2.84398E-5" "01251" "ABCA4_000050" "g.94471056G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94005500G>A" "" "pathogenic (recessive)" ""
"0000939027" "3" "50" "1" "94473188" "94473188" "subst" "0" "01251" "ABCA4_002609" "g.94473188A>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94007632A>T" "" "VUS" ""
"0000939028" "2" "50" "1" "94487490" "94487490" "subst" "0.00122268" "01251" "ABCA4_000506" "g.94487490A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94021934A>G" "" "VUS" ""
"0000939029" "0" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01251" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic (recessive)" ""
"0000939030" "0" "50" "1" "94488975" "94488975" "subst" "0" "01251" "ABCA4_002649" "g.94488975C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94023419C>T" "" "VUS" ""
"0000939031" "0" "90" "1" "94508386" "94508386" "subst" "1.62443E-5" "01251" "ABCA4_000642" "g.94508386C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94042830C>T" "" "pathogenic (recessive)" ""
"0000939032" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000939033" "2" "50" "1" "94487404" "94487404" "subst" "0.00244055" "01251" "ABCA4_000497" "g.94487404C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94021848C>T" "" "VUS" ""
"0000939034" "1" "50" "1" "94502701" "94502701" "subst" "0" "01251" "ABCA4_001871" "g.94502701C>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94037145C>A" "" "VUS" ""
"0000939035" "2" "50" "1" "94495000" "94497333" "del" "0" "01251" "ABCA4_002657" "g.(94496677_94497333)_(94490605_94495000)del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.(94031121_94031777)_(94025049_94029444)del" "" "VUS" ""
"0000939036" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000939037" "2" "90" "1" "94476351" "94476351" "subst" "0.000296608" "01251" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94010795C>T" "" "pathogenic (recessive)" ""
"0000939038" "0" "90" "1" "94486896" "94486896" "subst" "3.65562E-5" "01251" "ABCA4_000085" "g.94486896G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94021340G>A" "" "pathogenic (recessive)" ""
"0000939039" "2" "50" "1" "94466558" "94466558" "subst" "0" "01251" "ABCA4_001011" "g.94466558C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94001002C>T" "" "VUS" ""
"0000939040" "2" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01251" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000939041" "2" "70" "1" "94466624" "94466624" "subst" "0.0014345" "01251" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94001068C>T" "" "likely pathogenic (recessive)" ""
"0000939042" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000939043" "0" "90" "1" "94476351" "94476351" "subst" "0.000296608" "01251" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "pathogenic (recessive)" ""
"0000939044" "0" "70" "1" "94466624" "94466624" "subst" "0.0014345" "01251" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94001068C>T" "" "likely pathogenic (recessive)" ""
"0000939045" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000939046" "2" "90" "1" "94471065" "94471065" "subst" "0.000194997" "01251" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94005509G>A" "" "pathogenic (recessive)" ""
"0000939047" "0" "50" "1" "94461664" "94476942" "del" "0" "01251" "ABCA4_002597" "g.(94458799_94461664)_(94476942_94480098)del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.(93993243_93996108)_(94011386_94014542)del" "" "VUS" ""
"0000939048" "3" "90" "1" "94473278" "94473278" "del" "3.25908E-5" "01251" "ABCA4_000392" "g.94473278del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94007722del" "" "pathogenic (recessive)" ""
"0000939049" "0" "90" "1" "94471065" "94471065" "subst" "0.000194997" "01251" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94005509G>A" "" "pathogenic (recessive)" ""
"0000939050" "0" "50" "1" "94506878" "94506878" "subst" "4.06081E-6" "01251" "ABCA4_001901" "g.94506878T>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94041322T>C" "" "VUS" ""
"0000939051" "2" "90" "1" "94463568" "94463603" "del" "0" "01251" "ABCA4_000805" "g.94463568_94463603del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.93998012_93998047del" "" "pathogenic (recessive)" ""
"0000939052" "2" "90" "1" "94466461" "94466461" "subst" "0" "01251" "ABCA4_000825" "g.94466461C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94000905C>T" "" "pathogenic (recessive)" ""
"0000939053" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000939054" "2" "90" "1" "94473266" "94473266" "subst" "8.14677E-6" "01251" "ABCA4_000389" "g.94473266C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94007710C>T" "" "pathogenic (recessive)" ""
"0000939055" "2" "90" "1" "94496666" "94496666" "subst" "0.000219568" "01251" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94031110G>A" "" "pathogenic (recessive)" ""
"0000939056" "1" "50" "1" "94508918" "94508918" "subst" "0.000121946" "01251" "ABCA4_001109" "g.94508918C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94043362C>T" "" "VUS" ""
"0000939057" "2" "90" "1" "94508435" "94508436" "dup" "0" "01251" "ABCA4_000998" "g.94508435_94508436dup" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94042879_94042880dup" "" "pathogenic (recessive)" ""
"0000939058" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000939059" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01251" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000939060" "2" "90" "1" "94471055" "94471055" "subst" "0.00035346" "01251" "ABCA4_000029" "g.94471055C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94005499C>T" "" "pathogenic (recessive)" ""
"0000939061" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000939062" "2" "70" "1" "94466605" "94466605" "subst" "0" "01251" "ABCA4_000157" "g.94466605G>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94001049G>C" "" "likely pathogenic (recessive)" ""
"0000939063" "0" "90" "1" "94471055" "94471055" "subst" "0.00035346" "01251" "ABCA4_000029" "g.94471055C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94005499C>T" "" "pathogenic (recessive)" ""
"0000939064" "2" "70" "1" "94466624" "94466624" "subst" "0.0014345" "01251" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94001068C>T" "" "likely pathogenic (recessive)" ""
"0000939065" "0" "90" "1" "94546151" "94546151" "subst" "4.06855E-6" "01251" "ABCA4_000347" "g.94546151C>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94080595C>A" "" "pathogenic (recessive)" ""
"0000939066" "0" "70" "1" "94466624" "94466624" "subst" "0.0014345" "01251" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "no variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.94001068C>T" "" "likely pathogenic (recessive)" ""
"0000939067" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000939068" "0" "50" "1" "94505599" "94505599" "subst" "0" "01251" "ABCA4_001884" "g.94505599C>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94040043C>A" "" "VUS" ""
"0000939069" "0" "90" "1" "94487436" "94487441" "delins" "0" "01251" "ABCA4_001761" "g.94487436_94487441delinsGG" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94021880_94021885delinsGG" "" "pathogenic (recessive)" ""
"0000939070" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000939071" "0" "90" "1" "94463568" "94463603" "del" "0" "01251" "ABCA4_000805" "g.94463568_94463603del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.93998012_93998047del" "" "pathogenic (recessive)" ""
"0000939072" "0" "90" "1" "94473278" "94473278" "del" "3.25908E-5" "01251" "ABCA4_000392" "g.94473278del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94007722del" "" "pathogenic (recessive)" ""
"0000939073" "2" "90" "1" "94476351" "94476351" "subst" "0.000296608" "01251" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94010795C>T" "" "pathogenic (recessive)" ""
"0000939074" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000939075" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000939076" "3" "90" "1" "94546248" "94546248" "del" "2.03666E-5" "01251" "ABCA4_000352" "g.94546248del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94080692del" "" "pathogenic (recessive)" ""
"0000939077" "0" "50" "1" "94466416" "94466416" "subst" "0" "01251" "ABCA4_002601" "g.94466416C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94000860C>G" "" "VUS" ""
"0000939078" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000939079" "2" "90" "1" "94486934" "94486934" "del" "1.62529E-5" "01251" "ABCA4_001745" "g.94486934del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94021378del" "" "pathogenic (recessive)" ""
"0000939080" "2" "90" "1" "94466452" "94466452" "subst" "4.06088E-6" "01251" "ABCA4_000822" "g.94466452A>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94000896A>T" "" "pathogenic (recessive)" ""
"0000939081" "2" "90" "1" "94476351" "94476351" "subst" "0.000296608" "01251" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94010795C>T" "" "pathogenic (recessive)" ""
"0000939082" "0" "90" "1" "94471065" "94471065" "subst" "0.000194997" "01251" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94005509G>A" "" "pathogenic (recessive)" ""
"0000939083" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000939084" "2" "50" "1" "94471141" "94471141" "subst" "0" "01251" "ABCA4_002608" "g.94471141G>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94005585G>T" "" "VUS" ""
"0000939085" "0" "90" "1" "94471065" "94471065" "subst" "0.000194997" "01251" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94005509G>A" "" "pathogenic (recessive)" ""
"0000939086" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000939087" "2" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01251" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000939088" "2" "90" "1" "94471065" "94471065" "subst" "0.000194997" "01251" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94005509G>A" "" "pathogenic (recessive)" ""
"0000939089" "2" "90" "1" "94473801" "94473801" "del" "0" "01251" "ABCA4_000402" "g.94473801del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94008245del" "" "pathogenic (recessive)" ""
"0000939090" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000939091" "2" "90" "1" "94495009" "94495009" "dup" "0" "01251" "ABCA4_000087" "g.94495009dup" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94029453dup" "" "pathogenic (recessive)" ""
"0000939092" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000939093" "2" "90" "1" "94476351" "94476351" "subst" "0.000296608" "01251" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94010795C>T" "" "pathogenic (recessive)" ""
"0000939094" "0" "50" "1" "94497366" "94497366" "subst" "0" "01251" "ABCA4_002668" "g.94497366T>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94031810T>G" "" "VUS" ""
"0000939095" "3" "90" "1" "94466559" "94466559" "subst" "0" "01251" "ABCA4_000833" "g.94466559T>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94001003T>C" "" "pathogenic (recessive)" ""
"0000939096" "0" "50" "1" "94509015" "94509015" "subst" "0" "01251" "ABCA4_002692" "g.94509015G>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94043459G>C" "" "VUS" ""
"0000939097" "0" "90" "1" "94496666" "94496666" "subst" "0.000219568" "01251" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "pathogenic (recessive)" ""
"0000939098" "0" "90" "1" "94497468" "94497468" "subst" "0" "01251" "ABCA4_000582" "g.94497468G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94031912G>A" "" "pathogenic (recessive)" ""
"0000939099" "2" "90" "1" "94506923" "94506923" "subst" "2.43657E-5" "01251" "ABCA4_000012" "g.94506923C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94041367C>T" "" "pathogenic (recessive)" ""
"0000939100" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01251" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000939101" "2" "50" "1" "94476842" "94476842" "subst" "2.43764E-5" "01251" "ABCA4_001682" "g.94476842C>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94011286C>A" "" "VUS" ""
"0000939102" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000939103" "3" "70" "1" "94466624" "94466624" "subst" "0.0014345" "01251" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94001068C>T" "" "likely pathogenic (recessive)" ""
"0000939104" "3" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01251" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000939105" "3" "70" "1" "94466624" "94466624" "subst" "0.0014345" "01251" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94001068C>T" "" "likely pathogenic (recessive)" ""
"0000939106" "0" "90" "1" "94486858" "94486858" "subst" "0" "01251" "ABCA4_000482" "g.94486858A>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94021302A>C" "" "pathogenic (recessive)" ""
"0000939107" "2" "90" "1" "94502701" "94502701" "subst" "0" "01251" "ABCA4_000594" "g.94502701C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94037145C>G" "" "pathogenic (recessive)" ""
"0000939108" "0" "70" "1" "94466624" "94466624" "subst" "0.0014345" "01251" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94001068C>T" "" "likely pathogenic (recessive)" ""
"0000939109" "2" "90" "1" "94480178" "94480178" "subst" "2.43692E-5" "01251" "ABCA4_000005" "g.94480178G>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94014622G>T" "" "pathogenic (recessive)" ""
"0000939110" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000939111" "1" "70" "1" "94466624" "94466624" "subst" "0.0014345" "01251" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94001068C>T" "" "likely pathogenic (recessive)" ""
"0000939112" "2" "90" "1" "94480248" "94480248" "del" "0" "01251" "ABCA4_001056" "g.94480248del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94014692del" "" "pathogenic (recessive)" ""
"0000939113" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000939114" "2" "50" "1" "94467479" "94467479" "del" "0" "01251" "ABCA4_002603" "g.94467479del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94001923del" "" "VUS" ""
"0000939115" "3" "90" "1" "94486794" "94486794" "subst" "0" "01251" "ABCA4_000478" "g.94486794A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94021238A>G" "" "pathogenic (recessive)" ""
"0000939116" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000939117" "2" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01251" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000939118" "2" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01251" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000939119" "3" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01251" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94062710G>A" "" "pathogenic (recessive)" ""
"0000939120" "3" "90" "1" "94546118" "94546118" "subst" "8.13326E-6" "01251" "ABCA4_000082" "g.94546118A>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94080562A>C" "" "pathogenic (recessive)" ""
"0000939121" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000939122" "3" "90" "1" "94526212" "94526212" "subst" "1.22012E-5" "01251" "ABCA4_000075" "g.94526212G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94060656G>A" "" "pathogenic (recessive)" ""
"0000939123" "1" "90" "1" "94463428" "94463428" "subst" "1.62621E-5" "01251" "ABCA4_000854" "g.94463428T>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.93997872T>C" "" "pathogenic (recessive)" ""
"0000939124" "3" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01251" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000939125" "0" "50" "1" "94486951" "94486951" "subst" "0" "01251" "ABCA4_002639" "g.94486951G>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94021395G>C" "" "VUS" ""
"0000939126" "2" "90" "1" "94510248" "94510248" "subst" "0.000544123" "01251" "ABCA4_000107" "g.94510248C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94044692C>G" "" "pathogenic (recessive)" ""
"0000939127" "3" "50" "1" "94461656" "94461673" "del" "0" "01251" "ABCA4_002596" "g.94461656_94461673del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.93996100_93996117del" "" "VUS" ""
"0000939128" "0" "90" "1" "94466426" "94466426" "subst" "1.62433E-5" "01251" "ABCA4_000124" "g.94466426G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94000870G>A" "" "pathogenic (recessive)" ""
"0000939129" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01251" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000939130" "2" "90" "1" "94473801" "94473801" "del" "0" "01251" "ABCA4_000402" "g.94473801del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94008245del" "" "pathogenic (recessive)" ""
"0000939131" "0" "90" "1" "94466422" "94466422" "subst" "2.43651E-5" "01251" "ABCA4_000817" "g.94466422C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94000866C>T" "" "pathogenic (recessive)" ""
"0000939132" "0" "50" "1" "94474398" "94474398" "subst" "0" "01251" "ABCA4_002616" "g.94474398A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94008842A>G" "" "VUS" ""
"0000939133" "0" "90" "1" "94528248" "94528248" "subst" "1.22148E-5" "01251" "ABCA4_000279" "g.94528248A>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94062692A>T" "" "pathogenic (recessive)" ""
"0000939134" "3" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000939135" "3" "90" "1" "94496571" "94496571" "subst" "4.06174E-6" "01251" "ABCA4_000111" "g.94496571G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94031015G>A" "" "pathogenic (recessive)" ""
"0000939136" "0" "50" "1" "94496509" "94496509" "subst" "0.00475243" "01251" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94030953C>T" "" "VUS" ""
"0000939137" "2" "70" "1" "94512481" "94512481" "subst" "4.06524E-6" "01251" "ABCA4_000679" "g.94512481G>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94046925G>T" "" "likely pathogenic (recessive)" ""
"0000939138" "0" "90" "1" "94471056" "94471056" "subst" "2.84398E-5" "01251" "ABCA4_000050" "g.94471056G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94005500G>A" "" "pathogenic (recessive)" ""
"0000939139" "0" "90" "1" "94510248" "94510248" "subst" "0.000544123" "01251" "ABCA4_000107" "g.94510248C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94044692C>G" "" "pathogenic (recessive)" ""
"0000939140" "0" "90" "1" "94496666" "94496666" "subst" "0.000219568" "01251" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "pathogenic (recessive)" ""
"0000939141" "0" "90" "1" "94486895" "94486895" "subst" "3.24923E-5" "01251" "ABCA4_000484" "g.94486895C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94021339C>T" "" "pathogenic (recessive)" ""
"0000939142" "3" "90" "1" "94485162" "94485162" "subst" "0" "01251" "ABCA4_001419" "g.94485162C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94019606C>T" "" "pathogenic (recessive)" ""
"0000939143" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000939144" "0" "90" "1" "94473266" "94473266" "subst" "8.14677E-6" "01251" "ABCA4_000389" "g.94473266C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94007710C>T" "" "pathogenic (recessive)" ""
"0000939145" "2" "90" "1" "94476351" "94476351" "subst" "0.000296608" "01251" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94010795C>T" "" "pathogenic (recessive)" ""
"0000939146" "0" "90" "1" "94497392" "94497392" "subst" "0" "01251" "ABCA4_000577" "g.94497392G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94031836G>A" "" "pathogenic (recessive)" ""
"0000939147" "2" "50" "1" "94496509" "94496509" "subst" "0.00475243" "01251" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94030953C>T" "" "VUS" ""
"0000939148" "2" "50" "1" "94496509" "94496509" "subst" "0.00475243" "01251" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94030953C>T" "" "VUS" ""
"0000939149" "2" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01251" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000939150" "2" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01251" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic (recessive)" ""
"0000939151" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000939152" "1" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01251" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic (recessive)" ""
"0000939153" "2" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01251" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000939154" "0" "90" "1" "94508435" "94508436" "dup" "0" "01251" "ABCA4_000998" "g.94508435_94508436dup" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94042879_94042880dup" "" "pathogenic (recessive)" ""
"0000939155" "0" "50" "1" "94509015" "94509015" "subst" "0" "01251" "ABCA4_002692" "g.94509015G>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94043459G>C" "" "VUS" ""
"0000939156" "3" "90" "1" "94471056" "94471056" "subst" "2.84398E-5" "01251" "ABCA4_000050" "g.94471056G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94005500G>A" "" "pathogenic (recessive)" ""
"0000939157" "2" "90" "1" "94476351" "94476351" "subst" "0.000296608" "01251" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94010795C>T" "" "pathogenic (recessive)" ""
"0000939158" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000939159" "3" "90" "1" "94526154" "94526154" "subst" "4.06441E-6" "01251" "ABCA4_000752" "g.94526154C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94060598C>T" "" "pathogenic (recessive)" ""
"0000939160" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000939161" "2" "90" "1" "94471025" "94471025" "subst" "0.00031698" "01251" "ABCA4_000096" "g.94471025C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94005469C>T" "" "pathogenic (recessive)" ""
"0000939162" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000939163" "0" "90" "1" "94508322" "94508322" "subst" "1.62513E-5" "01251" "ABCA4_000128" "g.94508322C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94042766C>T" "" "pathogenic (recessive)" ""
"0000939164" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000939165" "0" "50" "1" "94502867" "94502867" "subst" "0" "01251" "ABCA4_002674" "g.94502867A>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94037311A>C" "" "VUS" ""
"0000939166" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000939167" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000939168" "2" "90" "1" "94544159" "94544159" "subst" "2.03079E-5" "01251" "ABCA4_000063" "g.94544159A>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94078603A>T" "" "pathogenic (recessive)" ""
"0000939169" "3" "90" "1" "94564549" "94564549" "subst" "0" "01251" "ABCA4_000198" "g.94564549T>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94098993T>C" "" "pathogenic (recessive)" ""
"0000939170" "0" "70" "1" "94466624" "94466624" "subst" "0.0014345" "01251" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94001068C>T" "" "likely pathogenic (recessive)" ""
"0000939171" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000939172" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000939173" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000939174" "0" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01251" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic (recessive)" ""
"0000939175" "0" "90" "1" "94473266" "94473266" "subst" "8.14677E-6" "01251" "ABCA4_000389" "g.94473266C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94007710C>T" "" "pathogenic (recessive)" ""
"0000939176" "0" "90" "1" "94471055" "94471055" "subst" "0.00035346" "01251" "ABCA4_000029" "g.94471055C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94005499C>T" "" "pathogenic (recessive)" ""
"0000939177" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000939178" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01251" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000939179" "0" "70" "1" "94463425" "94463425" "subst" "0.000109787" "01251" "ABCA4_000853" "g.94463425G>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.93997869G>C" "" "likely pathogenic (recessive)" ""
"0000939180" "2" "90" "1" "94520690" "94520690" "subst" "2.03102E-5" "01251" "ABCA4_000149" "g.94520690C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94055134C>T" "" "pathogenic (recessive)" ""
"0000939181" "2" "50" "1" "94512490" "94512490" "subst" "0" "01251" "ABCA4_002339" "g.94512490C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94046934C>T" "" "VUS" ""
"0000939182" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000939183" "3" "90" "1" "94473801" "94473801" "del" "0" "01251" "ABCA4_000402" "g.94473801del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94008245del" "" "pathogenic (recessive)" ""
"0000939184" "2" "50" "1" "94476397" "94476400" "del" "0" "01251" "ABCA4_002617" "g.94476397_94476400del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94010841_94010844del" "" "VUS" ""
"0000939185" "0" "90" "1" "94471065" "94471065" "subst" "0.000194997" "01251" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94005509G>A" "" "pathogenic (recessive)" ""
"0000939186" "0" "50" "1" "94476462" "94476462" "del" "0" "01251" "ABCA4_002620" "g.94476462del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94010906del" "" "VUS" ""
"0000939187" "1" "50" "1" "94488959" "94488959" "subst" "0" "01251" "ABCA4_002648" "g.94488959G>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94023403G>T" "" "VUS" ""
"0000939188" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000939189" "0" "70" "1" "94495157" "94495157" "subst" "4.06752E-6" "01251" "ABCA4_001815" "g.94495157C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94029601C>G" "" "likely pathogenic (recessive)" ""
"0000939190" "0" "90" "1" "94476351" "94476351" "subst" "0.000296608" "01251" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "pathogenic (recessive)" ""
"0000939191" "2" "90" "1" "94466634" "94466634" "subst" "0" "01251" "ABCA4_001585" "g.94466634G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94001078G>A" "" "pathogenic (recessive)" ""
"0000939192" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000939193" "0" "90" "1" "94473278" "94473278" "del" "3.25908E-5" "01251" "ABCA4_000392" "g.94473278del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94007722del" "" "pathogenic (recessive)" ""
"0000939194" "0" "50" "1" "94485317" "94485317" "subst" "0" "01251" "ABCA4_002632" "g.94485317T>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94019761T>G" "" "VUS" ""
"0000939195" "0" "90" "1" "94528251" "94528251" "subst" "2.84824E-5" "01251" "ABCA4_000281" "g.94528251C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94062695C>T" "" "pathogenic (recessive)" ""
"0000939196" "3" "70" "1" "94512602" "94512602" "subst" "0.000369717" "01251" "ABCA4_000052" "g.94512602C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94047046C>T" "" "likely pathogenic (recessive)" ""
"0000939197" "1" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01251" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic (recessive)" ""
"0000939198" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000939199" "1" "50" "1" "94486934" "94486934" "subst" "0" "01251" "ABCA4_001101" "g.94486934A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94021378A>G" "" "VUS" ""
"0000939200" "2" "90" "1" "94471065" "94471065" "subst" "0.000194997" "01251" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94005509G>A" "" "pathogenic (recessive)" ""
"0000939201" "2" "90" "1" "94502701" "94502701" "subst" "0" "01251" "ABCA4_000594" "g.94502701C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94037145C>G" "" "pathogenic (recessive)" ""
"0000939202" "0" "70" "1" "94466624" "94466624" "subst" "0.0014345" "01251" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94001068C>T" "" "likely pathogenic (recessive)" ""
"0000939203" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000939204" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000939205" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000939206" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01251" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000939207" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01251" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000939208" "2" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01251" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000939209" "0" "90" "1" "94510253" "94510253" "subst" "0.000247694" "01251" "ABCA4_000108" "g.94510253A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94044697A>G" "" "pathogenic (recessive)" ""
"0000939210" "0" "90" "1" "94471055" "94471055" "subst" "0.00035346" "01251" "ABCA4_000029" "g.94471055C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94005499C>T" "" "pathogenic (recessive)" ""
"0000939211" "2" "70" "1" "94466624" "94466624" "subst" "0.0014345" "01251" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94001068C>T" "" "likely pathogenic (recessive)" ""
"0000939212" "1" "90" "1" "94476351" "94476351" "subst" "0.000296608" "01251" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94010795C>T" "" "pathogenic (recessive)" ""
"0000939213" "2" "50" "1" "94543290" "94543290" "subst" "0" "01251" "ABCA4_002731" "g.94543290T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94077734T>A" "" "VUS" ""
"0000939214" "2" "90" "1" "94476351" "94476351" "subst" "0.000296608" "01251" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94010795C>T" "" "pathogenic (recessive)" ""
"0000939215" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000939216" "2" "90" "1" "94490577" "94490577" "subst" "0" "01251" "ABCA4_001791" "g.94490577G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94025021G>A" "" "pathogenic (recessive)" ""
"0000939217" "2" "90" "1" "94508322" "94508322" "subst" "1.62513E-5" "01251" "ABCA4_000128" "g.94508322C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94042766C>T" "" "pathogenic (recessive)" ""
"0000939218" "2" "70" "1" "94506959" "94506959" "subst" "8.12321E-6" "01251" "ABCA4_001078" "g.94506959C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94041403C>T" "" "likely pathogenic (recessive)" ""
"0000939219" "2" "50" "1" "94473815" "94473816" "del" "0" "01251" "ABCA4_002612" "g.94473815_94473816del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94008259_94008260del" "" "VUS" ""
"0000939220" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000939221" "0" "90" "1" "94496666" "94496666" "subst" "0.000219568" "01251" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94031110G>A" "" "pathogenic (recessive)" ""
"0000939222" "0" "90" "1" "94480241" "94480241" "subst" "7.71705E-5" "01251" "ABCA4_000446" "g.94480241G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94014685G>A" "" "pathogenic (recessive)" ""
"0000939223" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000939224" "0" "90" "1" "94476351" "94476351" "subst" "0.000296608" "01251" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "pathogenic (recessive)" ""
"0000939225" "2" "90" "1" "94466426" "94466426" "subst" "1.62433E-5" "01251" "ABCA4_000124" "g.94466426G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94000870G>A" "" "pathogenic (recessive)" ""
"0000939226" "3" "90" "1" "94487251" "94487251" "subst" "2.85679E-5" "01251" "ABCA4_000490" "g.94487251G>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94021695G>T" "" "pathogenic (recessive)" ""
"0000939227" "3" "90" "1" "94502706" "94502706" "subst" "0" "01251" "ABCA4_000597" "g.94502706C>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94037150C>A" "" "pathogenic (recessive)" ""
"0000939228" "3" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01251" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000939229" "3" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01251" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000939230" "0" "50" "1" "94487490" "94487490" "subst" "0.00122268" "01251" "ABCA4_000506" "g.94487490A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94021934A>G" "" "VUS" ""
"0000939231" "2" "70" "1" "94485221" "94485221" "subst" "0" "01251" "ABCA4_000471" "g.94485221G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94019665G>A" "" "likely pathogenic (recessive)" ""
"0000939232" "0" "90" "1" "94461664" "94461664" "subst" "4.06841E-6" "01251" "ABCA4_000860" "g.94461664C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.93996108C>T" "" "pathogenic (recessive)" ""
"0000939233" "0" "90" "1" "94476351" "94476351" "subst" "0.000296608" "01251" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94010795C>T" "" "pathogenic (recessive)" ""
"0000939234" "3" "90" "1" "94473278" "94473278" "del" "3.25908E-5" "01251" "ABCA4_000392" "g.94473278del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94007722del" "" "pathogenic (recessive)" ""
"0000939235" "0" "90" "1" "94473789" "94473789" "subst" "0" "01251" "ABCA4_001644" "g.94473789A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94008233A>G" "" "pathogenic (recessive)" ""
"0000939236" "0" "90" "1" "94476942" "94476942" "subst" "0" "01251" "ABCA4_001487" "g.94476942C>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94011386C>A" "" "pathogenic (recessive)" ""
"0000939237" "3" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01251" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000939238" "1" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01251" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic (recessive)" ""
"0000939239" "2" "90" "1" "94471055" "94471055" "subst" "0.00035346" "01251" "ABCA4_000029" "g.94471055C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94005499C>T" "" "pathogenic (recessive)" ""
"0000939240" "3" "70" "1" "94466658" "94466658" "subst" "8.14817E-6" "01251" "ABCA4_000132" "g.94466658C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94001102C>T" "" "likely pathogenic (recessive)" ""
"0000939241" "3" "90" "1" "94497392" "94497392" "subst" "0" "01251" "ABCA4_000577" "g.94497392G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94031836G>A" "" "pathogenic (recessive)" ""
"0000939242" "2" "50" "1" "94485257" "94485257" "subst" "0.00017945" "01251" "ABCA4_000100" "g.94485257C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94019701C>T" "" "VUS" ""
"0000939243" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000939244" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01251" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000939245" "0" "50" "1" "94506838" "94506838" "subst" "1.21827E-5" "01251" "ABCA4_000616" "g.94506838C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94041282C>T" "" "VUS" ""
"0000939246" "0" "70" "1" "94466624" "94466624" "subst" "0.0014345" "01251" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94001068C>T" "" "likely pathogenic (recessive)" ""
"0000939247" "1" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01251" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic (recessive)" ""
"0000939248" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000939249" "0" "70" "1" "94467476" "94467476" "subst" "0" "01251" "ABCA4_000781" "g.94467476C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94001920C>T" "" "likely pathogenic (recessive)" ""
"0000939250" "2" "90" "1" "94471065" "94471065" "subst" "0.000194997" "01251" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94005509G>A" "" "pathogenic (recessive)" ""
"0000939251" "0" "90" "1" "94480243" "94480243" "subst" "4.06124E-6" "01251" "ABCA4_000448" "g.94480243C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94014687C>T" "" "pathogenic (recessive)" ""
"0000939252" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000939253" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000939254" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000939255" "0" "90" "1" "94473801" "94473801" "del" "0" "01251" "ABCA4_000402" "g.94473801del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94008245del" "" "pathogenic (recessive)" ""
"0000939256" "2" "90" "1" "94496666" "94496666" "subst" "0.000219568" "01251" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94031110G>A" "" "pathogenic (recessive)" ""
"0000939257" "0" "90" "1" "94506923" "94506923" "subst" "2.43657E-5" "01251" "ABCA4_000012" "g.94506923C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94041367C>T" "" "pathogenic (recessive)" ""
"0000939258" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000939259" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000939260" "2" "90" "1" "94528265" "94528265" "subst" "2.44212E-5" "01251" "ABCA4_000284" "g.94528265C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94062709C>T" "" "pathogenic (recessive)" ""
"0000939261" "2" "50" "1" "94510277" "94510277" "subst" "8.12123E-6" "01251" "ABCA4_000671" "g.94510277G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94044721G>A" "" "VUS" ""
"0000939262" "1" "70" "1" "94466624" "94466624" "subst" "0.0014345" "01251" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94001068C>T" "" "likely pathogenic (recessive)" ""
"0000939263" "2" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01251" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000939264" "0" "50" "1" "94508999" "94508999" "dup" "0" "01251" "ABCA4_002690" "g.94508999dup" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94043443dup" "" "VUS" ""
"0000939265" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01251" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000939266" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01251" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000939267" "2" "70" "1" "94466624" "94466624" "subst" "0.0014345" "01251" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94001068C>T" "" "likely pathogenic (recessive)" ""
"0000939268" "0" "90" "1" "94466628" "94466628" "subst" "0.000109748" "01251" "ABCA4_000094" "g.94466628G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94001072G>A" "" "pathogenic (recessive)" ""
"0000939269" "2" "50" "1" "94476378" "94476378" "subst" "0.000499679" "01251" "ABCA4_000412" "g.94476378G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94010822G>A" "" "VUS" ""
"0000939270" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000939271" "1" "70" "1" "94466624" "94466624" "subst" "0.0014345" "01251" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94001068C>T" "" "likely pathogenic (recessive)" ""
"0000939272" "2" "30" "1" "94505604" "94505604" "subst" "0.00645586" "01251" "ABCA4_000092" "g.94505604A>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94040048A>C" "" "likely benign" ""
"0000939273" "2" "50" "1" "94486863" "94486863" "subst" "0" "01251" "ABCA4_002636" "g.94486863C>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94021307C>A" "" "VUS" ""
"0000939274" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000939275" "2" "90" "1" "94495009" "94495009" "del" "0" "01251" "ABCA4_000534" "g.94495009del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94029453del" "" "pathogenic (recessive)" ""
"0000939276" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01251" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000939277" "2" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01251" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000939278" "2" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01251" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000939279" "2" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01251" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000939280" "0" "90" "1" "94471065" "94471065" "subst" "0.000194997" "01251" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94005509G>A" "" "pathogenic (recessive)" ""
"0000939281" "0" "50" "1" "94528148" "94528148" "subst" "0" "01251" "ABCA4_000777" "g.94528148C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94062592C>G" "" "VUS" ""
"0000939282" "2" "50" "1" "94463523" "94463523" "subst" "4.06131E-6" "01251" "ABCA4_002598" "g.94463523A>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.93997967A>T" "" "VUS" ""
"0000939283" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000939284" "0" "50" "1" "94522236" "94522240" "delins" "0" "01251" "ABCA4_002711" "g.94522236_94522240delinsTTAA" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94056680_94056684delinsTTAA" "" "VUS" ""
"0000939285" "0" "90" "1" "94497468" "94497468" "subst" "0" "01251" "ABCA4_000582" "g.94497468G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94031912G>A" "" "pathogenic (recessive)" ""
"0000939286" "2" "50" "1" "94506952" "94506952" "subst" "0" "01251" "ABCA4_002681" "g.94506952G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94041396G>A" "" "VUS" ""
"0000939287" "2" "90" "1" "94485165" "94485165" "subst" "0" "01251" "ABCA4_001016" "g.94485165G>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94019609G>C" "" "pathogenic (recessive)" ""
"0000939288" "0" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01251" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic (recessive)" ""
"0000939289" "0" "70" "1" "94543436" "94543436" "subst" "0" "01251" "ABCA4_002121" "g.94543436A>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94077880A>T" "" "likely pathogenic (recessive)" ""
"0000939290" "2" "70" "1" "94473272" "94473272" "subst" "0" "01251" "ABCA4_000390" "g.94473272C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94007716C>G" "" "likely pathogenic (recessive)" ""
"0000939291" "0" "70" "1" "94512602" "94512602" "subst" "0.000369717" "01251" "ABCA4_000052" "g.94512602C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94047046C>T" "" "likely pathogenic (recessive)" ""
"0000939292" "2" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01251" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94062710G>A" "" "pathogenic (recessive)" ""
"0000939293" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000939294" "2" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01251" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000939295" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01251" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000939296" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01251" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000939297" "2" "90" "1" "94466426" "94466426" "subst" "1.62433E-5" "01251" "ABCA4_000124" "g.94466426G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94000870G>A" "" "pathogenic (recessive)" ""
"0000939298" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000939299" "2" "50" "1" "94487249" "94487249" "subst" "0" "01251" "ABCA4_002641" "g.94487249A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94021693A>G" "" "VUS" ""
"0000939300" "2" "90" "1" "94520665" "94520665" "subst" "0" "01251" "ABCA4_000707" "g.94520665A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94055109A>G" "" "pathogenic (recessive)" ""
"0000939301" "0" "90" "1" "94506923" "94506923" "subst" "2.43657E-5" "01251" "ABCA4_000012" "g.94506923C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94041367C>T" "" "pathogenic (recessive)" ""
"0000939302" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000939303" "0" "50" "1" "94505606" "94505619" "dup" "0" "01251" "ABCA4_002677" "g.94505606_94505619dup" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94040050_94040063dup" "" "VUS" ""
"0000939304" "2" "90" "1" "94476890" "94476890" "subst" "0" "01251" "ABCA4_001386" "g.94476890G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94011334G>A" "" "pathogenic (recessive)" ""
"0000939305" "2" "50" "1" "94497546" "94497546" "delins" "0" "01251" "ABCA4_002669" "g.94497546delinsAC" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94031990delinsAC" "" "VUS" ""
"0000939306" "0" "90" "1" "94480241" "94480241" "subst" "7.71705E-5" "01251" "ABCA4_000446" "g.94480241G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94014685G>A" "" "pathogenic (recessive)" ""
"0000939307" "0" "70" "1" "94485247" "94485247" "subst" "4.07647E-5" "01251" "ABCA4_000475" "g.94485247C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94019691C>T" "" "likely pathogenic (recessive)" ""
"0000939308" "0" "50" "1" "94502899" "94502899" "del" "0" "01251" "ABCA4_000920" "g.94502899del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94037343del" "" "VUS" ""
"0000939309" "0" "90" "1" "94506923" "94506923" "subst" "2.43657E-5" "01251" "ABCA4_000012" "g.94506923C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94041367C>T" "" "pathogenic (recessive)" ""
"0000939310" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01251" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Unknown" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000939311" "2" "50" "1" "94487508" "94487508" "subst" "0" "01251" "ABCA4_002646" "g.94487508C>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94021952C>A" "" "VUS" ""
"0000939312" "2" "70" "1" "94466624" "94466624" "subst" "0.0014345" "01251" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline" "yes" "" "0" "" "" "g.94001068C>T" "" "likely pathogenic (recessive)" ""
"0000944680" "11" "50" "1" "94564544" "94564544" "subst" "0.000432798" "04594" "ABCA4_000383" "g.94564544C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.94098988C>T" "" "VUS" ""
"0000944681" "21" "70" "1" "94528143" "94528143" "subst" "0.00124448" "04594" "ABCA4_000076" "g.94528143C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.94062587C>T" "" "likely pathogenic" ""
"0000944682" "3" "90" "1" "94471056" "94471056" "subst" "2.84398E-5" "04594" "ABCA4_000050" "g.94471056G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.94005500G>A" "" "pathogenic (recessive)" ""
"0000944830" "0" "70" "1" "94496581" "94496581" "subst" "0" "04594" "ABCA4_002762" "g.94496581C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.94031025C>G" "" "pathogenic" ""
"0000944831" "3" "70" "1" "94473807" "94473807" "subst" "0.00480453" "04594" "ABCA4_000046" "g.94473807C>T" "" "" "" "" "" "Germline" "yes" "rs1800553" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" ""
"0000944832" "3" "50" "1" "94546163" "94546163" "subst" "0" "04594" "ABCA4_001321" "g.94546163A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.94080607A>G" "" "VUS" "ACMG"
"0000944833" "21" "70" "1" "94473807" "94473807" "subst" "0.00480453" "04594" "ABCA4_000046" "g.94473807C>T" "" "" "F9:II.1" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "likely pathogenic (recessive)" "ACMG"
"0000944834" "11" "90" "1" "94495157" "94495157" "subst" "0" "04594" "ABCA4_000545" "g.94495157C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.94029601C>T" "" "pathogenic (recessive)" "ACMG"
"0000944835" "0" "50" "1" "94508386" "94508386" "subst" "1.62443E-5" "04594" "ABCA4_000642" "g.94508386C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.94042830C>T" "" "VUS" "ACMG"
"0000944869" "3" "90" "1" "94466391" "94467549" "del" "0" "00006" "ABCA4_002274" "g.(94463667_94466391)_(94467549_94470996)del" "" "{PMID:Falfoul 2018:29736279}" "" "[(?_-4635)_(5714+?)dup;(?_6148)_(6479_+?)del]" "note upstream variant duplication ex32-40" "Germline" "yes" "" "0" "" "" "g.(93998111_94000835)_(94001993_94005440)del" "" "pathogenic (!)" ""
"0000944870" "20" "90" "1" "94466391" "94467549" "del" "0" "00006" "ABCA4_002274" "g.(94463667_94466391)_(94467549_94470996)del" "" "{PMID:Falfoul 2018:29736279}" "" "[(?_-4635)_(5714+?)dup;(?_6148)_(6479_+?)del]" "note upstream variant duplication ex32-40" "Germline" "yes" "" "0" "" "" "g.(93998111_94000835)_(94001993_94005440)del" "" "pathogenic (!)" ""
"0000944871" "20" "70" "1" "94476355" "94488975" "dup" "0" "01695" "ABCA4_002760" "g.(94474428_94476355)_(94488975_94490509)dup" "" "{PMID:Falfoul 2018:29736279}" "" "[(?_-4635)_(5714+?)dup;(?_6148)_(6479_+?)del]" "duplication ex32-40, deletion ex45-47" "Germline" "yes" "" "0" "" "" "g.(94008872_94010799)_(94023419_94024953)dup" "" "pathogenic (recessive)" ""
"0000944872" "20" "90" "1" "94466391" "94467549" "del" "0" "00006" "ABCA4_002274" "g.(94463667_94466391)_(94467549_94470996)del" "" "{PMID:Falfoul 2018:29736279}" "" "[(?_-4635)_(5714+?)dup;(?_6148)_(6479_+?)del]" "note upstream variant duplication ex32-40" "Germline" "yes" "" "0" "" "" "g.(93998111_94000835)_(94001993_94005440)del" "" "pathogenic (!)" ""
"0000944873" "3" "70" "1" "94476355" "94488975" "dup" "0" "01695" "ABCA4_002760" "g.(94474428_94476355)_(94488975_94490509)dup" "" "{PMID:Falfoul 2018:29736279}" "" "[(?_-4635)_(5714+?)dup;(?_6148)_(6479_+?)del]" "duplication ex32-40, deletion ex45-47" "Germline" "yes" "" "0" "" "" "g.(94008872_94010799)_(94023419_94024953)dup" "" "pathogenic (recessive)" ""
"0000944874" "3" "90" "1" "94466391" "94467549" "del" "0" "00006" "ABCA4_002274" "g.(94463667_94466391)_(94467549_94470996)del" "" "{PMID:Falfoul 2018:29736279}" "" "[(?_-4635)_(5714+?)dup;(?_6148)_(6479_+?)del]" "note upstream variant duplication ex32-40" "Germline" "yes" "" "0" "" "" "g.(93998111_94000835)_(94001993_94005440)del" "" "pathogenic (!)" ""
"0000944875" "3" "70" "1" "94476355" "94488975" "dup" "0" "01695" "ABCA4_002760" "g.(94474428_94476355)_(94488975_94490509)dup" "" "{PMID:Falfoul 2018:29736279}" "" "[(?_-4635)_(5714+?)dup;(?_6148)_(6479_+?)del]" "duplication ex32-40, deletion ex45-47" "Germline" "yes" "" "0" "" "" "g.(94008872_94010799)_(94023419_94024953)dup" "" "pathogenic (recessive)" ""
"0000944876" "3" "90" "1" "94466391" "94467549" "del" "0" "00006" "ABCA4_002274" "g.(94463667_94466391)_(94467549_94470996)del" "" "{PMID:Falfoul 2018:29736279}" "" "[(?_-4635)_(5714+?)dup;(?_6148)_(6479_+?)del]" "note upstream variant duplication ex32-40" "Germline" "yes" "" "0" "" "" "g.(93998111_94000835)_(94001993_94005440)del" "" "pathogenic (!)" ""
"0000947315" "0" "50" "1" "94467548" "94467548" "subst" "0.00295661" "02325" "ABCA4_000788" "g.94467548C>G" "" "" "" "ABCA4(NM_000350.2):c.6148G>C (p.V2050L), ABCA4(NM_000350.3):c.6148G>C (p.V2050L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000947316" "0" "70" "1" "94492973" "94492973" "subst" "0" "02327" "ABCA4_000030" "g.94492973G>A" "" "" "" "ABCA4(NM_000350.2):c.4539+2028C>T, ABCA4(NM_000350.3):c.4539+2028C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0000947317" "0" "10" "1" "94496053" "94496053" "subst" "0.00437371" "02327" "ABCA4_000556" "g.94496053G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000947318" "0" "70" "1" "94508322" "94508322" "subst" "0" "02327" "ABCA4_001920" "g.94508322C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0000947319" "0" "90" "1" "94508991" "94508991" "del" "0" "02327" "ABCA4_001953" "g.94508991del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000947320" "0" "70" "1" "94510215" "94510215" "subst" "1.21818E-5" "02327" "ABCA4_000666" "g.94510215G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0000947321" "0" "70" "1" "94512523" "94512523" "subst" "0" "02327" "ABCA4_000688" "g.94512523T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0000947322" "0" "30" "1" "94546792" "94546792" "subst" "0" "02330" "ABCA4_002763" "g.94546792A>G" "" "" "" "ABCA4(NM_000350.3):c.859-518T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000954009" "1" "70" "1" "94526295" "94526295" "subst" "3.69731E-5" "00006" "ABCA4_000114" "g.94526295C>T" "" "{PMID:Moon 2021:35052368}" "" "" "" "Germline" "" "" "0" "" "" "g.94060739C>T" "" "likely pathogenic" ""
"0000954079" "2" "90" "1" "94506817" "94506817" "subst" "0" "00006" "ABCA4_001342" "g.94506817A>C" "" "{PMID:Moon 2021:35052368}" "" "" "" "Germline" "" "" "0" "" "" "g.94041261A>C" "" "pathogenic" ""
"0000955474" "0" "70" "1" "94546096" "94546096" "subst" "4.06583E-6" "01695" "ABCA4_000337" "g.94546096T>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94080540T>G" "" "likely pathogenic (recessive)" ""
"0000955475" "0" "90" "1" "94471056" "94471056" "subst" "2.84398E-5" "01695" "ABCA4_000050" "g.94471056G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94005500G>A" "" "pathogenic (recessive)" ""
"0000955476" "3" "90" "1" "94506894" "94506895" "delins" "0" "01695" "ABCA4_000621" "g.94506894_94506895delinsC" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94041338_94041339delinsC" "" "pathogenic (recessive)" ""
"0000955477" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000955478" "0" "90" "1" "94544185" "94544185" "subst" "8.12137E-6" "01695" "ABCA4_000177" "g.94544185C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94078629C>T" "" "pathogenic (recessive)" ""
"0000955479" "0" "90" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94063250A>G" "" "pathogenic (recessive)" ""
"0000955480" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000955481" "3" "90" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94063250A>G" "" "pathogenic (recessive)" ""
"0000955482" "0" "90" "1" "94526212" "94526212" "subst" "1.22012E-5" "01695" "ABCA4_000075" "g.94526212G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94060656G>A" "" "pathogenic (recessive)" ""
"0000955483" "0" "50" "1" "94528148" "94528148" "subst" "0" "01695" "ABCA4_000777" "g.94528148C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94062592C>G" "" "VUS" ""
"0000955484" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000955485" "0" "90" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94046943T>C" "" "pathogenic (recessive)" ""
"0000955486" "0" "90" "1" "94508435" "94508436" "dup" "0" "01695" "ABCA4_000998" "g.94508435_94508436dup" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94042879_94042880dup" "" "pathogenic (recessive)" ""
"0000955487" "0" "90" "1" "94508435" "94508436" "dup" "0" "01695" "ABCA4_000998" "g.94508435_94508436dup" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94042879_94042880dup" "" "pathogenic (recessive)" ""
"0000955488" "0" "90" "1" "94508904" "94508904" "subst" "0" "01695" "ABCA4_001345" "g.94508904G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94043348G>A" "" "pathogenic (recessive)" ""
"0000955489" "0" "90" "1" "94528265" "94528265" "subst" "2.44212E-5" "01695" "ABCA4_000284" "g.94528265C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94062709C>T" "" "pathogenic (recessive)" ""
"0000955490" "0" "90" "1" "94528265" "94528265" "subst" "2.44212E-5" "01695" "ABCA4_000284" "g.94528265C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94062709C>T" "" "pathogenic (recessive)" ""
"0000955491" "0" "90" "1" "94508435" "94508436" "dup" "0" "01695" "ABCA4_000998" "g.94508435_94508436dup" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94042879_94042880dup" "" "pathogenic (recessive)" ""
"0000955492" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000955493" "0" "90" "1" "94522194" "94522194" "subst" "0" "01695" "ABCA4_000733" "g.94522194C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94056638C>T" "" "pathogenic (recessive)" ""
"0000955494" "0" "90" "1" "94577135" "94577135" "subst" "2.43718E-5" "01695" "ABCA4_000240" "g.94577135C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94111579C>T" "" "pathogenic (recessive)" ""
"0000955495" "0" "90" "1" "94577135" "94577135" "subst" "2.43718E-5" "01695" "ABCA4_000240" "g.94577135C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94111579C>T" "" "pathogenic (recessive)" ""
"0000955496" "0" "70" "1" "94528667" "94528667" "subst" "0" "01695" "ABCA4_001073" "g.94528667C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94063111C>T" "" "likely pathogenic (recessive)" ""
"0000955497" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000955498" "0" "50" "1" "94487490" "94487490" "subst" "0.00122268" "01695" "ABCA4_000506" "g.94487490A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94021934A>G" "" "VUS" ""
"0000955499" "0" "50" "1" "94487490" "94487490" "subst" "0.00122268" "01695" "ABCA4_000506" "g.94487490A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94021934A>G" "" "VUS" ""
"0000955500" "0" "50" "1" "94487490" "94487490" "subst" "0.00122268" "01695" "ABCA4_000506" "g.94487490A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94021934A>G" "" "VUS" ""
"0000955501" "0" "90" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94031110G>A" "" "pathogenic (recessive)" ""
"0000955502" "0" "90" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94029515C>T" "" "pathogenic (recessive)" ""
"0000955503" "0" "90" "1" "94495177" "94495177" "subst" "1.22342E-5" "01695" "ABCA4_000023" "g.94495177A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94029621A>G" "" "pathogenic (recessive)" ""
"0000955504" "0" "90" "1" "94495177" "94495177" "subst" "1.22342E-5" "01695" "ABCA4_000023" "g.94495177A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94029621A>G" "" "pathogenic (recessive)" ""
"0000955505" "0" "70" "1" "94496677" "94496677" "subst" "0" "01695" "ABCA4_001403" "g.94496677C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94031121C>T" "" "likely pathogenic (recessive)" ""
"0000955506" "0" "50" "1" "94544887" "94544887" "subst" "0" "01695" "ABCA4_002820" "g.94544887T>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94079331T>C" "" "VUS" ""
"0000955507" "0" "90" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94031110G>A" "" "pathogenic (recessive)" ""
"0000955508" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000955509" "0" "50" "1" "94495003" "94495005" "delins" "0" "01695" "ABCA4_002790" "g.94495003_94495005delinsTTT" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94029447_94029449delinsTTT" "" "VUS" ""
"0000955510" "0" "50" "1" "94495003" "94495005" "delins" "0" "01695" "ABCA4_002790" "g.94495003_94495005delinsTTT" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94029447_94029449delinsTTT" "" "VUS" ""
"0000955511" "3" "70" "1" "94473263" "94473263" "subst" "0" "01695" "ABCA4_000097" "g.94473263T>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94007707T>C" "" "likely pathogenic (recessive)" ""
"0000955512" "0" "90" "1" "94508436" "94508437" "ins" "0" "01695" "ABCA4_000645" "g.94508436_94508437insAC" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94042880_94042881insAC" "" "pathogenic (recessive)" ""
"0000955513" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000955514" "0" "90" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94046943T>C" "" "pathogenic (recessive)" ""
"0000955515" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000955516" "0" "70" "1" "94544249" "94544249" "subst" "8.12196E-6" "01695" "ABCA4_000323" "g.94544249A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94078693A>G" "" "likely pathogenic (recessive)" ""
"0000955517" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000955518" "0" "90" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94063250A>G" "" "pathogenic (recessive)" ""
"0000955519" "0" "90" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94029515C>T" "" "pathogenic (recessive)" ""
"0000955520" "0" "90" "1" "94544895" "94544895" "subst" "1.62455E-5" "01695" "ABCA4_000329" "g.94544895G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94079339G>A" "" "pathogenic (recessive)" ""
"0000955521" "0" "90" "1" "94486896" "94486896" "subst" "3.65562E-5" "01695" "ABCA4_000085" "g.94486896G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94021340G>A" "" "pathogenic (recessive)" ""
"0000955522" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000955523" "0" "70" "1" "94494999" "94494999" "subst" "0" "01695" "ABCA4_000530" "g.94494999A>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94029443A>C" "" "likely pathogenic (recessive)" ""
"0000955524" "0" "90" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94031110G>A" "" "pathogenic (recessive)" ""
"0000955525" "0" "90" "1" "94522300" "94522300" "del" "0" "01695" "ABCA4_000744" "g.94522300del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94056744del" "" "pathogenic (recessive)" ""
"0000955526" "0" "50" "1" "94577003" "94577003" "subst" "0" "01695" "ABCA4_002221" "g.94577003T>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94111447T>C" "" "VUS" ""
"0000955527" "0" "90" "1" "94492973" "94492973" "subst" "0" "01695" "ABCA4_000030" "g.94492973G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94027417G>A" "" "pathogenic (recessive)" ""
"0000955528" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000955529" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000955530" "0" "90" "1" "94495009" "94495009" "dup" "0" "01695" "ABCA4_000087" "g.94495009dup" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94029453dup" "" "pathogenic (recessive)" ""
"0000955531" "0" "90" "1" "94577135" "94577135" "subst" "2.43718E-5" "01695" "ABCA4_000240" "g.94577135C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94111579C>T" "" "pathogenic (recessive)" ""
"0000955532" "0" "90" "1" "94509026" "94509026" "subst" "4.06497E-5" "01695" "ABCA4_000660" "g.94509026G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94043470G>A" "" "pathogenic (recessive)" ""
"0000955533" "0" "90" "1" "94509026" "94509026" "subst" "4.06497E-5" "01695" "ABCA4_000660" "g.94509026G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94043470G>A" "" "pathogenic (recessive)" ""
"0000955534" "3" "90" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94029515C>T" "" "pathogenic (recessive)" ""
"0000955535" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000955536" "0" "90" "1" "94528668" "94528668" "subst" "0" "01695" "ABCA4_001313" "g.94528668C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94063112C>T" "" "pathogenic (recessive)" ""
"0000955537" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000955538" "3" "90" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94098928G>A" "" "pathogenic (recessive)" ""
"0000955539" "0" "90" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94063250A>G" "" "pathogenic (recessive)" ""
"0000955540" "0" "90" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94046943T>C" "" "pathogenic (recessive)" ""
"0000955541" "0" "90" "1" "94577135" "94577135" "subst" "2.43718E-5" "01695" "ABCA4_000240" "g.94577135C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94111579C>T" "" "pathogenic (recessive)" ""
"0000955542" "0" "90" "1" "94496610" "94496610" "subst" "2.03128E-5" "01695" "ABCA4_000571" "g.94496610C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94031054C>T" "" "pathogenic (recessive)" ""
"0000955543" "0" "90" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94029515C>T" "" "pathogenic (recessive)" ""
"0000955544" "0" "90" "1" "94508353" "94508353" "subst" "2.8431E-5" "01695" "ABCA4_000141" "g.94508353G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94042797G>A" "" "pathogenic (recessive)" ""
"0000955545" "3" "90" "1" "94490567" "94490567" "subst" "5.68528E-5" "01695" "ABCA4_000026" "g.94490567G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94025011G>A" "" "pathogenic (recessive)" ""
"0000955546" "0" "90" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94098928G>A" "" "pathogenic (recessive)" ""
"0000955547" "0" "90" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94098928G>A" "" "pathogenic (recessive)" ""
"0000955548" "0" "90" "1" "94526296" "94526296" "subst" "1.64555E-5" "01695" "ABCA4_000768" "g.94526296G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94060740G>A" "" "pathogenic (recessive)" ""
"0000955549" "3" "70" "1" "94463399" "94463413" "del" "0" "01695" "ABCA4_000851" "g.94463399_94463413del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.93997843_93997857del" "" "likely pathogenic (recessive)" ""
"0000955550" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000955551" "0" "50" "1" "94487269" "94487269" "subst" "0" "01695" "ABCA4_001755" "g.94487269C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94021713C>T" "" "VUS" ""
"0000955552" "0" "50" "1" "94487269" "94487269" "subst" "0" "01695" "ABCA4_001755" "g.94487269C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94021713C>T" "" "VUS" ""
"0000955553" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000955554" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000955555" "0" "90" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94031110G>A" "" "pathogenic (recessive)" ""
"0000955556" "0" "70" "1" "94512602" "94512602" "subst" "0.000369717" "01695" "ABCA4_000052" "g.94512602C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94047046C>T" "" "likely pathogenic (recessive)" ""
"0000955557" "0" "90" "1" "94508455" "94508455" "subst" "8.12434E-6" "01695" "ABCA4_000649" "g.94508455C>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94042899C>A" "" "pathogenic (recessive)" ""
"0000955558" "0" "70" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94001068C>T" "" "likely pathogenic (recessive)" ""
"0000955559" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000955560" "0" "50" "1" "94577111" "94577111" "subst" "0" "01695" "ABCA4_002230" "g.94577111G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94111555G>A" "" "VUS" ""
"0000955561" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000955562" "0" "90" "1" "94528164" "94528164" "subst" "2.03336E-5" "01695" "ABCA4_000267" "g.94528164G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94062608G>A" "" "pathogenic (recessive)" ""
"0000955563" "3" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000955564" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000955565" "0" "90" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94046943T>C" "" "pathogenic (recessive)" ""
"0000955566" "0" "90" "1" "94508356" "94508356" "subst" "0" "01695" "ABCA4_000635" "g.94508356T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94042800T>A" "" "pathogenic (recessive)" ""
"0000955567" "0" "90" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94029515C>T" "" "pathogenic (recessive)" ""
"0000955568" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000955569" "0" "90" "1" "94508455" "94508455" "subst" "8.12434E-6" "01695" "ABCA4_000649" "g.94508455C>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94042899C>A" "" "pathogenic (recessive)" ""
"0000955570" "0" "90" "1" "94476486" "94476486" "subst" "0" "01695" "ABCA4_000423" "g.94476486C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94010930C>T" "" "pathogenic (recessive)" ""
"0000955571" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000955572" "0" "90" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94029515C>T" "" "pathogenic (recessive)" ""
"0000955573" "0" "90" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94029515C>T" "" "pathogenic (recessive)" ""
"0000955574" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000955575" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000955576" "0" "90" "1" "94528251" "94528251" "subst" "2.84824E-5" "01695" "ABCA4_000281" "g.94528251C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94062695C>T" "" "pathogenic (recessive)" ""
"0000955577" "0" "50" "1" "94512532" "94512532" "subst" "0" "01695" "ABCA4_000691" "g.94512532T>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94046976T>G" "" "VUS" ""
"0000955578" "0" "90" "1" "94544185" "94544185" "subst" "8.12137E-6" "01695" "ABCA4_000177" "g.94544185C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94078629C>T" "" "pathogenic (recessive)" ""
"0000955579" "0" "70" "1" "94528713" "94528713" "subst" "4.87381E-5" "01695" "ABCA4_000072" "g.94528713C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94063157C>T" "" "likely pathogenic (recessive)" ""
"0000955580" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000955581" "0" "90" "1" "94497393" "94497393" "subst" "2.04188E-5" "01695" "ABCA4_000578" "g.94497393C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94031837C>T" "" "pathogenic (recessive)" ""
"0000955582" "0" "90" "1" "94497393" "94497393" "subst" "2.04188E-5" "01695" "ABCA4_000578" "g.94497393C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94031837C>T" "" "pathogenic (recessive)" ""
"0000955583" "0" "90" "1" "94480248" "94480248" "subst" "0" "01695" "ABCA4_002780" "g.94480248T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94014692T>A" "" "pathogenic (recessive)" ""
"0000955584" "0" "90" "1" "94508386" "94508386" "subst" "1.62443E-5" "01695" "ABCA4_000642" "g.94508386C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94042830C>T" "" "pathogenic (recessive)" ""
"0000955585" "0" "70" "1" "94544167" "94544167" "subst" "8.12269E-6" "01695" "ABCA4_000316" "g.94544167G>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94078611G>C" "" "likely pathogenic (recessive)" ""
"0000955586" "0" "70" "1" "94528713" "94528713" "subst" "4.87381E-5" "01695" "ABCA4_000072" "g.94528713C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94063157C>T" "" "likely pathogenic (recessive)" ""
"0000955587" "0" "90" "1" "94496547" "94496547" "subst" "4.06345E-6" "01695" "ABCA4_000559" "g.94496547C>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94030991C>A" "" "pathogenic (recessive)" ""
"0000955588" "0" "90" "1" "94526212" "94526212" "subst" "1.22012E-5" "01695" "ABCA4_000075" "g.94526212G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94060656G>A" "" "pathogenic (recessive)" ""
"0000955589" "0" "90" "1" "94490567" "94490567" "subst" "5.68528E-5" "01695" "ABCA4_000026" "g.94490567G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94025011G>A" "" "pathogenic (recessive)" ""
"0000955590" "3" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000955591" "0" "50" "1" "94543367" "94543367" "subst" "0" "01695" "ABCA4_002817" "g.94543367A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94077811A>G" "" "VUS" ""
"0000955592" "0" "90" "1" "94522194" "94522194" "subst" "0" "01695" "ABCA4_000733" "g.94522194C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94056638C>T" "" "pathogenic (recessive)" ""
"0000955593" "0" "90" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94031110G>A" "" "pathogenic (recessive)" ""
"0000955594" "0" "90" "1" "94495009" "94495009" "dup" "0" "01695" "ABCA4_000087" "g.94495009dup" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94029453dup" "" "pathogenic (recessive)" ""
"0000955595" "0" "90" "1" "94577135" "94577135" "subst" "2.43718E-5" "01695" "ABCA4_000240" "g.94577135C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94111579C>T" "" "pathogenic (recessive)" ""
"0000955596" "0" "90" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94031110G>A" "" "pathogenic (recessive)" ""
"0000955597" "0" "90" "1" "94508322" "94508322" "subst" "1.62513E-5" "01695" "ABCA4_000128" "g.94508322C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94042766C>T" "" "pathogenic (recessive)" ""
"0000955598" "0" "90" "1" "94495009" "94495009" "dup" "0" "01695" "ABCA4_000087" "g.94495009dup" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94029453dup" "" "pathogenic (recessive)" ""
"0000955599" "0" "90" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94063250A>G" "" "pathogenic (recessive)" ""
"0000955600" "3" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000955601" "0" "90" "1" "94508435" "94508436" "dup" "0" "01695" "ABCA4_000998" "g.94508435_94508436dup" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94042879_94042880dup" "" "pathogenic (recessive)" ""
"0000955602" "0" "70" "1" "94544167" "94544167" "subst" "8.12269E-6" "01695" "ABCA4_000316" "g.94544167G>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94078611G>C" "" "likely pathogenic (recessive)" ""
"0000955603" "0" "90" "1" "94487251" "94487251" "subst" "2.85679E-5" "01695" "ABCA4_000490" "g.94487251G>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94021695G>T" "" "pathogenic (recessive)" ""
"0000955604" "0" "90" "1" "94510253" "94510253" "subst" "0.000247694" "01695" "ABCA4_000108" "g.94510253A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94044697A>G" "" "pathogenic (recessive)" ""
"0000955605" "0" "90" "1" "94471055" "94471055" "subst" "0.00035346" "01695" "ABCA4_000029" "g.94471055C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94005499C>T" "" "pathogenic (recessive)" ""
"0000955606" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000955607" "0" "70" "1" "94512602" "94512602" "subst" "0.000369717" "01695" "ABCA4_000052" "g.94512602C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94047046C>T" "" "likely pathogenic (recessive)" ""
"0000955608" "0" "90" "1" "94544185" "94544185" "subst" "8.12137E-6" "01695" "ABCA4_000177" "g.94544185C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94078629C>T" "" "pathogenic (recessive)" ""
"0000955609" "0" "90" "1" "94486794" "94486794" "subst" "0" "01695" "ABCA4_000478" "g.94486794A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94021238A>G" "" "pathogenic (recessive)" ""
"0000955610" "0" "90" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94010795C>T" "" "pathogenic (recessive)" ""
"0000955611" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000955612" "3" "90" "1" "94495078" "94495078" "subst" "8.37044E-6" "01695" "ABCA4_000042" "g.94495078A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94029522A>G" "" "pathogenic (recessive)" ""
"0000955613" "3" "90" "1" "94546248" "94546248" "del" "2.03666E-5" "01695" "ABCA4_000352" "g.94546248del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94080692del" "" "pathogenic (recessive)" ""
"0000955614" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000955615" "0" "90" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94029515C>T" "" "pathogenic (recessive)" ""
"0000955616" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000955617" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000955618" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000955619" "3" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000955620" "0" "90" "1" "94510248" "94510248" "subst" "0.000544123" "01695" "ABCA4_000107" "g.94510248C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94044692C>G" "" "pathogenic (recessive)" ""
"0000955621" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000955622" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000955623" "0" "90" "1" "94526296" "94526296" "subst" "1.64555E-5" "01695" "ABCA4_000768" "g.94526296G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94060740G>A" "" "pathogenic (recessive)" ""
"0000955624" "0" "50" "1" "94487490" "94487490" "subst" "0.00122268" "01695" "ABCA4_000506" "g.94487490A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94021934A>G" "" "VUS" ""
"0000955625" "0" "90" "1" "94528164" "94528164" "subst" "2.03336E-5" "01695" "ABCA4_000267" "g.94528164G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94062608G>A" "" "pathogenic (recessive)" ""
"0000955626" "0" "90" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94063250A>G" "" "pathogenic (recessive)" ""
"0000955627" "3" "90" "1" "94495078" "94495078" "subst" "8.37044E-6" "01695" "ABCA4_000042" "g.94495078A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94029522A>G" "" "pathogenic (recessive)" ""
"0000955628" "0" "90" "1" "94528780" "94528780" "subst" "4.06171E-6" "01695" "ABCA4_000299" "g.94528780C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94063224C>T" "" "pathogenic (recessive)" ""
"0000955629" "3" "90" "1" "94463488" "94463488" "subst" "5.2803E-5" "01695" "ABCA4_000802" "g.94463488G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.93997932G>A" "" "pathogenic (recessive)" ""
"0000955630" "0" "90" "1" "94490567" "94490567" "subst" "5.68528E-5" "01695" "ABCA4_000026" "g.94490567G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94025011G>A" "" "pathogenic (recessive)" ""
"0000955631" "0" "50" "1" "94496509" "94496509" "subst" "0.00475243" "01695" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94030953C>T" "" "VUS" ""
"0000955632" "0" "90" "1" "94485137" "94485137" "subst" "0" "01695" "ABCA4_000464" "g.94485137C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94019581C>T" "" "pathogenic (recessive)" ""
"0000955633" "0" "90" "1" "94526296" "94526296" "subst" "1.64555E-5" "01695" "ABCA4_000768" "g.94526296G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94060740G>A" "" "pathogenic (recessive)" ""
"0000955634" "0" "90" "1" "94526296" "94526296" "subst" "1.64555E-5" "01695" "ABCA4_000768" "g.94526296G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94060740G>A" "" "pathogenic (recessive)" ""
"0000955635" "0" "90" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94063250A>G" "" "pathogenic (recessive)" ""
"0000955636" "0" "50" "1" "94520870" "94520870" "subst" "4.07774E-6" "01695" "ABCA4_002032" "g.94520870C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94055314C>T" "" "VUS" ""
"0000955637" "0" "90" "1" "94577073" "94577073" "subst" "0" "01695" "ABCA4_000231" "g.94577073A>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94111517A>C" "" "pathogenic (recessive)" ""
"0000955638" "0" "90" "1" "94577073" "94577073" "subst" "0" "01695" "ABCA4_000231" "g.94577073A>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94111517A>C" "" "pathogenic (recessive)" ""
"0000955639" "0" "90" "1" "94486836" "94486836" "del" "0" "01695" "ABCA4_000481" "g.94486836del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94021280del" "" "pathogenic (recessive)" ""
"0000955640" "0" "50" "1" "94487490" "94487490" "subst" "0.00122268" "01695" "ABCA4_000506" "g.94487490A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94021934A>G" "" "VUS" ""
"0000955641" "0" "90" "1" "94526316" "94526316" "subst" "4.25152E-6" "01695" "ABCA4_000118" "g.94526316C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94060760C>T" "" "pathogenic (recessive)" ""
"0000955642" "0" "90" "1" "94528265" "94528265" "subst" "2.44212E-5" "01695" "ABCA4_000284" "g.94528265C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94062709C>T" "" "pathogenic (recessive)" ""
"0000955643" "3" "50" "1" "94487490" "94487490" "subst" "0.00122268" "01695" "ABCA4_000506" "g.94487490A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94021934A>G" "" "VUS" ""
"0000955644" "0" "90" "1" "94473278" "94473278" "del" "3.25908E-5" "01695" "ABCA4_000392" "g.94473278del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94007722del" "" "pathogenic (recessive)" ""
"0000955645" "0" "90" "1" "94508435" "94508436" "dup" "0" "01695" "ABCA4_000998" "g.94508435_94508436dup" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94042879_94042880dup" "" "pathogenic (recessive)" ""
"0000955646" "0" "90" "1" "94528871" "94528871" "subst" "0" "01695" "ABCA4_001410" "g.94528871G>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94063315G>T" "" "pathogenic (recessive)" ""
"0000955647" "0" "90" "1" "94508353" "94508353" "subst" "2.8431E-5" "01695" "ABCA4_000141" "g.94508353G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94042797G>A" "" "pathogenic (recessive)" ""
"0000955648" "0" "70" "1" "94510168" "94510168" "subst" "0" "01695" "ABCA4_000662" "g.94510168C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94044612C>G" "" "likely pathogenic (recessive)" ""
"0000955649" "0" "70" "1" "94543281" "94543281" "subst" "4.0661E-6" "01695" "ABCA4_000309" "g.94543281C>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94077725C>A" "" "likely pathogenic (recessive)" ""
"0000955650" "0" "90" "1" "94496017" "94496017" "subst" "4.06075E-6" "01695" "ABCA4_000130" "g.94496017A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94030461A>G" "" "pathogenic (recessive)" ""
"0000955651" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000955652" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000955653" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000955654" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000955655" "0" "70" "1" "94546096" "94546096" "subst" "4.06583E-6" "01695" "ABCA4_000337" "g.94546096T>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94080540T>G" "" "likely pathogenic (recessive)" ""
"0000955656" "0" "50" "1" "94528253" "94528253" "subst" "8.13729E-6" "01695" "ABCA4_000767" "g.94528253C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94062697C>T" "" "VUS" ""
"0000955657" "0" "70" "1" "94506889" "94506889" "subst" "4.06091E-6" "01695" "ABCA4_000619" "g.94506889A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94041333A>G" "" "likely pathogenic (recessive)" ""
"0000955658" "0" "70" "1" "94528702" "94528702" "subst" "1.62468E-5" "01695" "ABCA4_000293" "g.94528702C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94063146C>G" "" "likely pathogenic (recessive)" ""
"0000955659" "3" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000955660" "3" "50" "1" "94520732" "94520732" "subst" "0" "01695" "ABCA4_000973" "g.94520732T>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94055176T>G" "" "VUS" ""
"0000955661" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000955662" "0" "50" "1" "94506765" "94506765" "subst" "0" "01695" "ABCA4_002798" "g.94506765C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94041209C>T" "" "VUS" ""
"0000955663" "0" "90" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94063250A>G" "" "pathogenic (recessive)" ""
"0000955664" "3" "70" "1" "94466391" "94466391" "subst" "0" "01695" "ABCA4_000814" "g.94466391C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94000835C>T" "" "likely pathogenic (recessive)" ""
"0000955665" "3" "70" "1" "94466391" "94466391" "subst" "0" "01695" "ABCA4_000814" "g.94466391C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94000835C>T" "" "likely pathogenic (recessive)" ""
"0000955666" "0" "90" "1" "94509026" "94509026" "subst" "4.06497E-5" "01695" "ABCA4_000660" "g.94509026G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94043470G>A" "" "pathogenic (recessive)" ""
"0000955667" "0" "90" "1" "94509026" "94509026" "subst" "4.06497E-5" "01695" "ABCA4_000660" "g.94509026G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94043470G>A" "" "pathogenic (recessive)" ""
"0000955668" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000955669" "0" "90" "1" "94496583" "94496583" "subst" "2.03092E-5" "01695" "ABCA4_000190" "g.94496583A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94031027A>G" "" "pathogenic (recessive)" ""
"0000955670" "0" "90" "1" "94496583" "94496583" "subst" "2.03092E-5" "01695" "ABCA4_000190" "g.94496583A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94031027A>G" "" "pathogenic (recessive)" ""
"0000955671" "0" "90" "1" "94510253" "94510253" "subst" "0.000247694" "01695" "ABCA4_000108" "g.94510253A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94044697A>G" "" "pathogenic (recessive)" ""
"0000955672" "0" "90" "1" "94544185" "94544185" "subst" "8.12137E-6" "01695" "ABCA4_000177" "g.94544185C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94078629C>T" "" "pathogenic (recessive)" ""
"0000955673" "0" "50" "1" "94487448" "94487448" "subst" "0" "01695" "ABCA4_001400" "g.94487448A>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94021892A>C" "" "VUS" ""
"0000955674" "0" "90" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94029515C>T" "" "pathogenic (recessive)" ""
"0000955675" "0" "90" "1" "94526230" "94526230" "subst" "7.32136E-5" "01695" "ABCA4_000760" "g.94526230C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94060674C>T" "" "pathogenic (recessive)" ""
"0000955676" "0" "50" "1" "94546114" "94546114" "subst" "0" "01695" "ABCA4_002824" "g.94546114T>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94080558T>G" "" "VUS" ""
"0000955677" "0" "90" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94031110G>A" "" "pathogenic (recessive)" ""
"0000955678" "0" "90" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94031110G>A" "" "pathogenic (recessive)" ""
"0000955679" "3" "90" "1" "94463488" "94463488" "subst" "5.2803E-5" "01695" "ABCA4_000802" "g.94463488G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.93997932G>A" "" "pathogenic (recessive)" ""
"0000955680" "0" "50" "1" "94506917" "94506917" "subst" "0" "01695" "ABCA4_000625" "g.94506917C>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94041361C>A" "" "VUS" ""
"0000955681" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000955682" "0" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic (recessive)" ""
"0000955683" "0" "90" "1" "94510253" "94510253" "subst" "0.000247694" "01695" "ABCA4_000108" "g.94510253A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94044697A>G" "" "pathogenic (recessive)" ""
"0000955684" "0" "90" "1" "94510248" "94510248" "subst" "0.000544123" "01695" "ABCA4_000107" "g.94510248C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94044692C>G" "" "pathogenic (recessive)" ""
"0000955685" "0" "90" "1" "94486794" "94486794" "subst" "0" "01695" "ABCA4_000478" "g.94486794A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94021238A>G" "" "pathogenic (recessive)" ""
"0000955686" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000955687" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000955688" "0" "90" "1" "94492973" "94492973" "subst" "0" "01695" "ABCA4_000030" "g.94492973G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94027417G>A" "" "pathogenic (recessive)" ""
"0000955689" "0" "70" "1" "94463399" "94463413" "del" "0" "01695" "ABCA4_000851" "g.94463399_94463413del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.93997843_93997857del" "" "likely pathogenic (recessive)" ""
"0000955690" "0" "90" "1" "94544185" "94544185" "subst" "8.12137E-6" "01695" "ABCA4_000177" "g.94544185C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94078629C>T" "" "pathogenic (recessive)" ""
"0000955691" "0" "70" "1" "94497392" "94497392" "subst" "0" "01695" "ABCA4_000576" "g.94497392G>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94031836G>T" "" "likely pathogenic (recessive)" ""
"0000955692" "0" "90" "1" "94528164" "94528164" "subst" "2.03336E-5" "01695" "ABCA4_000267" "g.94528164G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94062608G>A" "" "pathogenic (recessive)" ""
"0000955693" "0" "90" "1" "94490567" "94490567" "subst" "5.68528E-5" "01695" "ABCA4_000026" "g.94490567G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94025011G>A" "" "pathogenic (recessive)" ""
"0000955694" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000955695" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000955696" "0" "90" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94029515C>T" "" "pathogenic (recessive)" ""
"0000955697" "0" "90" "1" "94506923" "94506923" "subst" "2.43657E-5" "01695" "ABCA4_000012" "g.94506923C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94041367C>T" "" "pathogenic (recessive)" ""
"0000955698" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000955699" "0" "90" "1" "94508386" "94508386" "subst" "1.62443E-5" "01695" "ABCA4_000642" "g.94508386C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94042830C>T" "" "pathogenic (recessive)" ""
"0000955700" "0" "90" "1" "94495009" "94495009" "del" "0" "01695" "ABCA4_000534" "g.94495009del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94029453del" "" "pathogenic (recessive)" ""
"0000955701" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000955702" "0" "90" "1" "94544895" "94544895" "subst" "1.62455E-5" "01695" "ABCA4_000329" "g.94544895G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94079339G>A" "" "pathogenic (recessive)" ""
"0000955703" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000955704" "0" "90" "1" "94496583" "94496583" "subst" "2.03092E-5" "01695" "ABCA4_000190" "g.94496583A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "both variants are likely on same allele" "Germline/De novo (untested)" "" "" "0" "" "" "g.94031027A>G" "" "pathogenic (recessive)" ""
"0000955705" "0" "70" "1" "94528702" "94528702" "subst" "1.62468E-5" "01695" "ABCA4_000293" "g.94528702C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94063146C>G" "" "likely pathogenic (recessive)" ""
"0000955706" "0" "70" "1" "94496010" "94496010" "subst" "1.62434E-5" "01695" "ABCA4_000549" "g.94496010G>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94030454G>T" "" "likely pathogenic (recessive)" ""
"0000955707" "0" "90" "1" "94495983" "94495983" "subst" "8.12348E-6" "01695" "ABCA4_000547" "g.94495983C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94030427C>T" "" "pathogenic (recessive)" ""
"0000955708" "0" "90" "1" "94486836" "94486836" "del" "0" "01695" "ABCA4_000481" "g.94486836del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94021280del" "" "pathogenic (recessive)" ""
"0000955709" "3" "90" "1" "94496548" "94496548" "subst" "2.43787E-5" "01695" "ABCA4_000088" "g.94496548G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94030992G>A" "" "pathogenic (recessive)" ""
"0000955710" "0" "90" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94063250A>G" "" "pathogenic (recessive)" ""
"0000955711" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000955712" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000955713" "0" "90" "1" "94528164" "94528164" "subst" "2.03336E-5" "01695" "ABCA4_000267" "g.94528164G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94062608G>A" "" "pathogenic (recessive)" ""
"0000955714" "0" "50" "1" "94506849" "94506849" "subst" "0" "01695" "ABCA4_002799" "g.94506849G>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94041293G>C" "" "VUS" ""
"0000955715" "0" "70" "1" "94528671" "94528671" "subst" "0" "01695" "ABCA4_001409" "g.94528671T>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94063115T>C" "" "likely pathogenic (recessive)" ""
"0000955716" "0" "90" "1" "94528780" "94528780" "subst" "0" "01695" "ABCA4_002097" "g.94528780C>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94063224C>A" "" "pathogenic (recessive)" ""
"0000955717" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000955718" "0" "90" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94005509G>A" "" "pathogenic (recessive)" ""
"0000955719" "0" "90" "1" "94577135" "94577135" "subst" "2.43718E-5" "01695" "ABCA4_000240" "g.94577135C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94111579C>T" "" "pathogenic (recessive)" ""
"0000955720" "0" "70" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94001068C>T" "" "likely pathogenic (recessive)" ""
"0000955721" "0" "90" "1" "94485137" "94485137" "subst" "0" "01695" "ABCA4_000464" "g.94485137C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94019581C>T" "" "pathogenic (recessive)" ""
"0000955722" "0" "90" "1" "94528251" "94528251" "subst" "2.84824E-5" "01695" "ABCA4_000281" "g.94528251C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94062695C>T" "" "pathogenic (recessive)" ""
"0000955723" "0" "90" "1" "94528780" "94528780" "subst" "0" "01695" "ABCA4_002097" "g.94528780C>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94063224C>A" "" "pathogenic (recessive)" ""
"0000955724" "0" "90" "1" "94490567" "94490567" "subst" "5.68528E-5" "01695" "ABCA4_000026" "g.94490567G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94025011G>A" "" "pathogenic (recessive)" ""
"0000955725" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000955726" "0" "90" "1" "94496583" "94496583" "subst" "2.03092E-5" "01695" "ABCA4_000190" "g.94496583A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94031027A>G" "" "pathogenic (recessive)" ""
"0000955727" "0" "70" "1" "94508340" "94508340" "subst" "4.06171E-6" "01695" "ABCA4_000630" "g.94508340T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94042784T>A" "" "likely pathogenic (recessive)" ""
"0000955728" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000955729" "0" "90" "1" "94509026" "94509026" "subst" "4.06497E-5" "01695" "ABCA4_000660" "g.94509026G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94043470G>A" "" "pathogenic (recessive)" ""
"0000955730" "0" "90" "1" "94577116" "94577116" "del" "0" "01695" "ABCA4_000236" "g.94577116del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94111560del" "" "pathogenic (recessive)" ""
"0000955731" "0" "90" "1" "94577116" "94577116" "del" "0" "01695" "ABCA4_000236" "g.94577116del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94111560del" "" "pathogenic (recessive)" ""
"0000955732" "0" "70" "1" "94496589" "94496589" "subst" "0" "01695" "ABCA4_000568" "g.94496589G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94031033G>A" "" "likely pathogenic (recessive)" ""
"0000955733" "0" "50" "1" "94544977" "94544977" "subst" "0.000544432" "01695" "ABCA4_000332" "g.94544977A>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94079421A>T" "" "VUS" ""
"0000955734" "0" "90" "1" "94546118" "94546118" "subst" "8.13326E-6" "01695" "ABCA4_000082" "g.94546118A>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94080562A>C" "" "pathogenic (recessive)" ""
"0000955735" "0" "90" "1" "94508386" "94508386" "subst" "1.62443E-5" "01695" "ABCA4_000642" "g.94508386C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94042830C>T" "" "pathogenic (recessive)" ""
"0000955736" "0" "50" "1" "94544977" "94544977" "subst" "0.000544432" "01695" "ABCA4_000332" "g.94544977A>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94079421A>T" "" "VUS" ""
"0000955737" "3" "90" "1" "94509001" "94509001" "subst" "0" "01695" "ABCA4_001405" "g.94509001A>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94043445A>C" "" "pathogenic (recessive)" ""
"0000955738" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000955739" "0" "90" "1" "94546115" "94546115" "subst" "0" "01695" "ABCA4_000984" "g.94546115A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94080559A>G" "" "pathogenic (recessive)" ""
"0000955740" "3" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000955741" "0" "50" "1" "94490592" "94490592" "subst" "0" "01695" "ABCA4_000527" "g.94490592T>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94025036T>G" "" "VUS" ""
"0000955742" "0" "90" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94063250A>G" "" "pathogenic (recessive)" ""
"0000955743" "0" "90" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94031110G>A" "" "pathogenic (recessive)" ""
"0000955744" "0" "70" "1" "94481380" "94481390" "del" "0" "01695" "ABCA4_000458" "g.94481380_94481390del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94015824_94015834del" "" "likely pathogenic (recessive)" ""
"0000955745" "3" "90" "1" "94546283" "94546283" "subst" "8.18311E-5" "01695" "ABCA4_000356" "g.94546283A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94080727A>G" "" "pathogenic (recessive)" ""
"0000955746" "0" "70" "1" "94508346" "94508346" "subst" "0" "01695" "ABCA4_000632" "g.94508346A>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94042790A>T" "" "likely pathogenic (recessive)" ""
"0000955747" "0" "70" "1" "94509018" "94509018" "subst" "8.12869E-6" "01695" "ABCA4_000659" "g.94509018C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94043462C>T" "" "likely pathogenic (recessive)" ""
"0000955748" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000955749" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000955750" "0" "70" "1" "94506959" "94506959" "subst" "8.12321E-6" "01695" "ABCA4_001078" "g.94506959C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94041403C>T" "" "likely pathogenic (recessive)" ""
"0000955751" "0" "50" "1" "94510277" "94510277" "subst" "8.12123E-6" "01695" "ABCA4_000671" "g.94510277G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94044721G>A" "" "VUS" ""
"0000955752" "0" "90" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94031110G>A" "" "pathogenic (recessive)" ""
"0000955753" "3" "90" "1" "94514455" "94514455" "del" "0" "01695" "ABCA4_000699" "g.94514455del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94048899del" "" "pathogenic (recessive)" ""
"0000955754" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000955755" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000955756" "0" "90" "1" "94496583" "94496583" "subst" "2.03092E-5" "01695" "ABCA4_000190" "g.94496583A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94031027A>G" "" "pathogenic (recessive)" ""
"0000955757" "0" "50" "1" "94520744" "94520744" "subst" "0" "01695" "ABCA4_000719" "g.94520744A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94055188A>G" "" "VUS" ""
"0000955758" "0" "90" "1" "94508386" "94508386" "subst" "1.62443E-5" "01695" "ABCA4_000642" "g.94508386C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94042830C>T" "" "pathogenic (recessive)" ""
"0000955759" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000955760" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000955761" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000955762" "0" "70" "1" "94544167" "94544167" "subst" "8.12269E-6" "01695" "ABCA4_000316" "g.94544167G>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94078611G>C" "" "likely pathogenic (recessive)" ""
"0000955763" "0" "50" "1" "94512535" "94512535" "subst" "0" "01695" "ABCA4_002805" "g.94512535A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94046979A>G" "" "VUS" ""
"0000955764" "3" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000955765" "3" "90" "1" "94509001" "94509001" "subst" "0" "01695" "ABCA4_001405" "g.94509001A>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94043445A>C" "" "pathogenic (recessive)" ""
"0000955766" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000955767" "0" "70" "1" "94512602" "94512602" "subst" "0.000369717" "01695" "ABCA4_000052" "g.94512602C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94047046C>T" "" "likely pathogenic (recessive)" ""
"0000955768" "0" "90" "1" "94495177" "94495177" "subst" "1.22342E-5" "01695" "ABCA4_000023" "g.94495177A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94029621A>G" "" "pathogenic (recessive)" "ACMG"
"0000955769" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" "ACMG"
"0000955770" "0" "90" "1" "94528236" "94528236" "subst" "0" "01695" "ABCA4_000276" "g.94528236G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94062680G>A" "" "pathogenic (recessive)" "ACMG"
"0000955771" "0" "90" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94029515C>T" "" "pathogenic (recessive)" "ACMG"
"0000955772" "0" "90" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94029515C>T" "" "pathogenic (recessive)" "ACMG"
"0000955773" "0" "50" "1" "94543262" "94543262" "subst" "0" "01695" "ABCA4_002816" "g.94543262A>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94077706A>T" "" "VUS" "ACMG"
"0000955774" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" "ACMG"
"0000955775" "0" "50" "1" "94512532" "94512532" "subst" "0" "01695" "ABCA4_000691" "g.94512532T>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94046976T>G" "" "VUS" "ACMG"
"0000955776" "0" "90" "1" "94495177" "94495177" "subst" "1.22342E-5" "01695" "ABCA4_000023" "g.94495177A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94029621A>G" "" "pathogenic (recessive)" "ACMG"
"0000955777" "0" "90" "1" "94528164" "94528164" "subst" "2.03336E-5" "01695" "ABCA4_000267" "g.94528164G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94062608G>A" "" "pathogenic (recessive)" "ACMG"
"0000955778" "0" "90" "1" "94528164" "94528164" "subst" "2.03336E-5" "01695" "ABCA4_000267" "g.94528164G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94062608G>A" "" "pathogenic (recessive)" "ACMG"
"0000955779" "3" "90" "1" "94577082" "94577082" "subst" "2.84315E-5" "01695" "ABCA4_000232" "g.94577082C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94111526C>T" "" "pathogenic (recessive)" "ACMG"
"0000955780" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94062710G>A" "" "pathogenic (recessive)" "ACMG"
"0000955781" "0" "90" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94046943T>C" "" "pathogenic (recessive)" "ACMG"
"0000955782" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" "ACMG"
"0000955783" "0" "90" "1" "94490567" "94490567" "subst" "5.68528E-5" "01695" "ABCA4_000026" "g.94490567G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94025011G>A" "" "pathogenic (recessive)" "ACMG"
"0000955784" "0" "90" "1" "94490567" "94490567" "subst" "5.68528E-5" "01695" "ABCA4_000026" "g.94490567G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94025011G>A" "" "pathogenic (recessive)" "ACMG"
"0000955785" "0" "90" "1" "94496547" "94496547" "subst" "1.21904E-5" "01695" "ABCA4_000559" "g.94496547C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94030991C>T" "" "pathogenic (recessive)" "ACMG"
"0000955786" "0" "90" "1" "94544895" "94544895" "subst" "1.62455E-5" "01695" "ABCA4_000329" "g.94544895G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94079339G>A" "" "pathogenic (recessive)" "ACMG"
"0000955787" "0" "90" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94031110G>A" "" "pathogenic (recessive)" "ACMG"
"0000955788" "3" "90" "1" "94487251" "94487251" "subst" "2.85679E-5" "01695" "ABCA4_000490" "g.94487251G>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94021695G>T" "" "pathogenic (recessive)" "ACMG"
"0000955789" "0" "90" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94031110G>A" "" "pathogenic (recessive)" "ACMG"
"0000955790" "0" "90" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94031110G>A" "" "pathogenic (recessive)" "ACMG"
"0000955791" "0" "90" "1" "94577135" "94577135" "subst" "2.43718E-5" "01695" "ABCA4_000240" "g.94577135C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94111579C>T" "" "pathogenic (recessive)" "ACMG"
"0000955792" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" "ACMG"
"0000955793" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" "ACMG"
"0000955794" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" "ACMG"
"0000955795" "0" "90" "1" "94496017" "94496017" "subst" "4.06075E-6" "01695" "ABCA4_000130" "g.94496017A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94030461A>G" "" "pathogenic (recessive)" "ACMG"
"0000955796" "0" "70" "1" "94486888" "94486888" "subst" "3.65548E-5" "01695" "ABCA4_000137" "g.94486888G>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94021332G>C" "" "likely pathogenic (recessive)" "ACMG"
"0000955797" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" "ACMG"
"0000955798" "0" "90" "1" "94543419" "94543419" "subst" "0" "01695" "ABCA4_000188" "g.94543419T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94077863T>A" "" "pathogenic (recessive)" "ACMG"
"0000955799" "3" "90" "1" "94508386" "94508386" "subst" "1.62443E-5" "01695" "ABCA4_000642" "g.94508386C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94042830C>T" "" "pathogenic (recessive)" "ACMG"
"0000955800" "0" "90" "1" "94508435" "94508436" "dup" "0" "01695" "ABCA4_000998" "g.94508435_94508436dup" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94042879_94042880dup" "" "pathogenic (recessive)" "ACMG"
"0000955801" "0" "50" "1" "94508385" "94508385" "subst" "4.06095E-6" "01695" "ABCA4_001932" "g.94508385T>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94042829T>C" "" "VUS" "ACMG"
"0000955802" "0" "90" "1" "94528179" "94528179" "subst" "0" "01695" "ABCA4_001433" "g.94528179C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94062623C>T" "" "pathogenic (recessive)" "ACMG"
"0000955803" "0" "90" "1" "94508386" "94508386" "subst" "1.62443E-5" "01695" "ABCA4_000642" "g.94508386C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94042830C>T" "" "pathogenic (recessive)" "ACMG"
"0000955804" "0" "90" "1" "94506902" "94506902" "subst" "1.21834E-5" "01695" "ABCA4_000623" "g.94506902G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94041346G>A" "" "pathogenic (recessive)" "ACMG"
"0000955805" "0" "90" "1" "94526296" "94526296" "subst" "1.64555E-5" "01695" "ABCA4_000768" "g.94526296G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94060740G>A" "" "pathogenic (recessive)" "ACMG"
"0000955806" "0" "90" "1" "94495177" "94495177" "subst" "1.22342E-5" "01695" "ABCA4_000023" "g.94495177A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94029621A>G" "" "pathogenic (recessive)" "ACMG"
"0000955807" "0" "90" "1" "94506894" "94506895" "delins" "0" "01695" "ABCA4_000621" "g.94506894_94506895delinsC" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94041338_94041339delinsC" "" "pathogenic (recessive)" "ACMG"
"0000955808" "0" "50" "1" "94543389" "94543389" "subst" "0.000861235" "01695" "ABCA4_000312" "g.94543389C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94077833C>T" "" "VUS" "ACMG"
"0000955809" "0" "90" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94010795C>T" "" "pathogenic (recessive)" ""
"0000955810" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000955811" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000955812" "0" "90" "1" "94480241" "94480241" "subst" "7.71705E-5" "01695" "ABCA4_000446" "g.94480241G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94014685G>A" "" "pathogenic (recessive)" ""
"0000955813" "0" "90" "1" "94568687" "94568687" "subst" "1.62641E-5" "01695" "ABCA4_000024" "g.94568687G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94103131G>A" "" "pathogenic (recessive)" ""
"0000955814" "3" "90" "1" "94473278" "94473278" "del" "3.25908E-5" "01695" "ABCA4_000392" "g.94473278del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94007722del" "" "pathogenic (recessive)" ""
"0000955815" "3" "90" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94005509G>A" "" "pathogenic (recessive)" ""
"0000955816" "0" "90" "1" "94544185" "94544185" "subst" "8.12137E-6" "01695" "ABCA4_000177" "g.94544185C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94078629C>T" "" "pathogenic (recessive)" ""
"0000955817" "0" "90" "1" "94502706" "94502706" "subst" "0" "01695" "ABCA4_000597" "g.94502706C>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94037150C>A" "" "pathogenic (recessive)" ""
"0000955818" "0" "90" "1" "94502706" "94502706" "subst" "0" "01695" "ABCA4_000597" "g.94502706C>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94037150C>A" "" "pathogenic (recessive)" ""
"0000955819" "0" "90" "1" "94508386" "94508386" "subst" "1.62443E-5" "01695" "ABCA4_000642" "g.94508386C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94042830C>T" "" "pathogenic (recessive)" ""
"0000955820" "0" "70" "1" "94512580" "94512580" "subst" "2.8431E-5" "01695" "ABCA4_000695" "g.94512580A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94047024A>G" "" "likely pathogenic (recessive)" ""
"0000955821" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000955822" "0" "50" "1" "94520732" "94520732" "subst" "0" "01695" "ABCA4_000973" "g.94520732T>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94055176T>G" "" "VUS" ""
"0000955823" "0" "50" "1" "94520732" "94520732" "subst" "0" "01695" "ABCA4_000973" "g.94520732T>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94055176T>G" "" "VUS" ""
"0000955824" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000955825" "0" "90" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94031110G>A" "" "pathogenic (recessive)" ""
"0000955826" "0" "90" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94031110G>A" "" "pathogenic (recessive)" ""
"0000955827" "3" "90" "1" "94463488" "94463488" "subst" "5.2803E-5" "01695" "ABCA4_000802" "g.94463488G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.93997932G>A" "" "pathogenic (recessive)" ""
"0000955828" "0" "90" "1" "94526296" "94526296" "subst" "1.64555E-5" "01695" "ABCA4_000768" "g.94526296G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94060740G>A" "" "pathogenic (recessive)" ""
"0000955829" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000955830" "0" "90" "1" "94486791" "94486791" "subst" "0" "01695" "ABCA4_001253" "g.94486791C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94021235C>T" "" "pathogenic (recessive)" ""
"0000955831" "0" "90" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94031110G>A" "" "pathogenic (recessive)" ""
"0000955832" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000955833" "3" "50" "1" "94506806" "94506806" "subst" "2.84278E-5" "01695" "ABCA4_001896" "g.94506806G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94041250G>A" "" "VUS" ""
"0000955834" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000955835" "0" "90" "1" "94526296" "94526296" "subst" "1.64555E-5" "01695" "ABCA4_000768" "g.94526296G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94060740G>A" "" "pathogenic (recessive)" ""
"0000955836" "0" "70" "1" "94528713" "94528713" "subst" "4.87381E-5" "01695" "ABCA4_000072" "g.94528713C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94063157C>T" "" "likely pathogenic (recessive)" ""
"0000955837" "3" "70" "1" "94463399" "94463413" "del" "0" "01695" "ABCA4_000851" "g.94463399_94463413del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.93997843_93997857del" "" "likely pathogenic (recessive)" ""
"0000955838" "0" "90" "1" "94496547" "94496547" "subst" "4.06345E-6" "01695" "ABCA4_000559" "g.94496547C>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94030991C>A" "" "pathogenic (recessive)" ""
"0000955839" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000955840" "0" "90" "1" "94463488" "94463488" "subst" "5.2803E-5" "01695" "ABCA4_000802" "g.94463488G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.93997932G>A" "" "pathogenic (recessive)" ""
"0000955841" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000955842" "0" "90" "1" "94496020" "94496020" "subst" "8.12143E-6" "01695" "ABCA4_000014" "g.94496020C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94030464C>T" "" "pathogenic (recessive)" ""
"0000955843" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000955844" "0" "90" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94029515C>T" "" "pathogenic (recessive)" ""
"0000955845" "0" "90" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94029515C>T" "" "pathogenic (recessive)" ""
"0000955846" "0" "50" "1" "94514481" "94514481" "subst" "0" "01695" "ABCA4_000701" "g.94514481T>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94048925T>C" "" "VUS" ""
"0000955847" "0" "90" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94031110G>A" "" "pathogenic (recessive)" ""
"0000955848" "0" "90" "1" "94586581" "94586581" "dup" "0" "01695" "ABCA4_002253" "g.94586581dup" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94121025dup" "" "pathogenic (recessive)" ""
"0000955849" "0" "90" "1" "94471025" "94471025" "subst" "0.00031698" "01695" "ABCA4_000096" "g.94471025C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94005469C>T" "" "pathogenic (recessive)" ""
"0000955850" "0" "90" "1" "94471025" "94471025" "subst" "0.00031698" "01695" "ABCA4_000096" "g.94471025C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94005469C>T" "" "pathogenic (recessive)" ""
"0000955851" "0" "90" "1" "94510253" "94510253" "subst" "0.000247694" "01695" "ABCA4_000108" "g.94510253A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94044697A>G" "" "pathogenic (recessive)" ""
"0000955852" "0" "70" "1" "94485247" "94485247" "subst" "4.07647E-5" "01695" "ABCA4_000475" "g.94485247C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94019691C>T" "" "likely pathogenic (recessive)" ""
"0000955853" "0" "70" "1" "94495008" "94495008" "subst" "0" "01695" "ABCA4_000055" "g.94495008G>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94029452G>C" "" "likely pathogenic (recessive)" ""
"0000955854" "0" "70" "1" "94495008" "94495008" "subst" "0" "01695" "ABCA4_000055" "g.94495008G>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94029452G>C" "" "likely pathogenic (recessive)" ""
"0000955855" "0" "70" "1" "94528167" "94528167" "subst" "0" "01695" "ABCA4_000145" "g.94528167G>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94062611G>T" "" "likely pathogenic (recessive)" ""
"0000955856" "3" "90" "1" "94497564" "94497564" "subst" "1.64383E-5" "01695" "ABCA4_000091" "g.94497564G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94032008G>A" "" "pathogenic (recessive)" ""
"0000955857" "0" "90" "1" "94528265" "94528265" "subst" "2.44212E-5" "01695" "ABCA4_000284" "g.94528265C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94062709C>T" "" "pathogenic (recessive)" ""
"0000955858" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000955859" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000955860" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000955861" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000955862" "0" "90" "1" "94544921" "94544921" "del" "0" "01695" "ABCA4_002821" "g.94544921del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94079365del" "" "pathogenic (recessive)" ""
"0000955863" "0" "90" "1" "94568687" "94568687" "subst" "1.62641E-5" "01695" "ABCA4_000024" "g.94568687G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94103131G>A" "" "pathogenic (recessive)" ""
"0000955864" "3" "70" "1" "94509018" "94509018" "subst" "8.12869E-6" "01695" "ABCA4_000659" "g.94509018C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94043462C>T" "" "likely pathogenic (recessive)" ""
"0000955865" "0" "50" "1" "94544210" "94544210" "subst" "0" "01695" "ABCA4_002819" "g.94544210C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94078654C>T" "" "VUS" ""
"0000955866" "0" "50" "1" "94569151" "94569151" "subst" "0" "01695" "ABCA4_002828" "g.94569151A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94103595A>G" "" "VUS" ""
"0000955867" "0" "50" "1" "94569151" "94569151" "subst" "0" "01695" "ABCA4_002828" "g.94569151A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94103595A>G" "" "VUS" ""
"0000955868" "3" "70" "1" "94509018" "94509018" "subst" "8.12869E-6" "01695" "ABCA4_000659" "g.94509018C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94043462C>T" "" "likely pathogenic (recessive)" ""
"0000955869" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94062710G>A" "" "pathogenic (recessive)" ""
"0000955870" "0" "90" "1" "94506923" "94506923" "subst" "2.43657E-5" "01695" "ABCA4_000012" "g.94506923C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94041367C>T" "" "pathogenic (recessive)" ""
"0000955871" "0" "70" "1" "94544249" "94544249" "subst" "8.12196E-6" "01695" "ABCA4_000323" "g.94544249A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94078693A>G" "" "likely pathogenic (recessive)" ""
"0000955872" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000955873" "0" "90" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94029515C>T" "" "pathogenic (recessive)" ""
"0000955874" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000955875" "0" "90" "1" "94497468" "94497468" "subst" "0" "01695" "ABCA4_000582" "g.94497468G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94031912G>A" "" "pathogenic (recessive)" ""
"0000955876" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000955877" "0" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic (recessive)" ""
"0000955878" "0" "70" "1" "94512580" "94512580" "subst" "2.8431E-5" "01695" "ABCA4_000695" "g.94512580A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94047024A>G" "" "likely pathogenic (recessive)" ""
"0000955879" "0" "90" "1" "94528164" "94528164" "subst" "2.03336E-5" "01695" "ABCA4_000267" "g.94528164G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94062608G>A" "" "pathogenic (recessive)" ""
"0000955880" "0" "90" "1" "94546058" "94546064" "del" "0" "01695" "ABCA4_002823" "g.94546058_94546064del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94080502_94080508del" "" "pathogenic (recessive)" ""
"0000955881" "0" "90" "1" "94528164" "94528164" "subst" "2.03336E-5" "01695" "ABCA4_000267" "g.94528164G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94062608G>A" "" "pathogenic (recessive)" ""
"0000955882" "0" "90" "1" "94528164" "94528164" "subst" "2.03336E-5" "01695" "ABCA4_000267" "g.94528164G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94062608G>A" "" "pathogenic (recessive)" ""
"0000955883" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94062710G>A" "" "pathogenic (recessive)" ""
"0000955884" "0" "90" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94031110G>A" "" "pathogenic (recessive)" ""
"0000955885" "0" "90" "1" "94528819" "94528819" "subst" "2.03128E-5" "01695" "ABCA4_000078" "g.94528819G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94063263G>A" "" "pathogenic (recessive)" ""
"0000955886" "0" "90" "1" "94528819" "94528819" "subst" "2.03128E-5" "01695" "ABCA4_000078" "g.94528819G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94063263G>A" "" "pathogenic (recessive)" ""
"0000955887" "0" "90" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94031110G>A" "" "pathogenic (recessive)" ""
"0000955888" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000955889" "0" "50" "1" "94520694" "94520694" "subst" "8.12414E-6" "01695" "ABCA4_000712" "g.94520694C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94055138C>T" "" "VUS" ""
"0000955890" "0" "90" "1" "94544185" "94544185" "subst" "8.12137E-6" "01695" "ABCA4_000177" "g.94544185C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94078629C>T" "" "pathogenic (recessive)" ""
"0000955891" "0" "90" "1" "94544185" "94544185" "subst" "8.12137E-6" "01695" "ABCA4_000177" "g.94544185C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94078629C>T" "" "pathogenic (recessive)" ""
"0000955892" "0" "90" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94063250A>G" "" "pathogenic (recessive)" ""
"0000955893" "0" "90" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94063250A>G" "" "pathogenic (recessive)" ""
"0000955894" "0" "90" "1" "94528251" "94528251" "subst" "2.84824E-5" "01695" "ABCA4_000281" "g.94528251C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94062695C>T" "" "pathogenic (recessive)" ""
"0000955895" "0" "90" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94031110G>A" "" "pathogenic (recessive)" ""
"0000955896" "0" "90" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94063250A>G" "" "pathogenic (recessive)" ""
"0000955897" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000955898" "0" "50" "1" "94495176" "94495176" "subst" "0" "01695" "ABCA4_002791" "g.94495176C>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94029620C>A" "" "VUS" ""
"0000955899" "0" "90" "1" "94495009" "94495009" "dup" "0" "01695" "ABCA4_000087" "g.94495009dup" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94029453dup" "" "pathogenic (recessive)" ""
"0000955900" "0" "90" "1" "94488972" "94488972" "subst" "0" "01695" "ABCA4_001777" "g.94488972A>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94023416A>C" "" "pathogenic (recessive)" ""
"0000955901" "0" "90" "1" "94488972" "94488972" "subst" "0" "01695" "ABCA4_001777" "g.94488972A>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94023416A>C" "" "pathogenic (recessive)" ""
"0000955902" "0" "90" "1" "94528164" "94528164" "subst" "2.03336E-5" "01695" "ABCA4_000267" "g.94528164G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94062608G>A" "" "pathogenic (recessive)" ""
"0000955903" "0" "90" "1" "94528164" "94528164" "subst" "2.03336E-5" "01695" "ABCA4_000267" "g.94528164G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94062608G>A" "" "pathogenic (recessive)" ""
"0000955904" "0" "70" "1" "94495077" "94495077" "subst" "8.39461E-6" "01695" "ABCA4_000541" "g.94495077C>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94029521C>A" "" "likely pathogenic (recessive)" ""
"0000955905" "0" "90" "1" "94485137" "94485137" "subst" "0" "01695" "ABCA4_000464" "g.94485137C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94019581C>T" "" "pathogenic (recessive)" ""
"0000955906" "0" "90" "1" "94568687" "94568687" "subst" "1.62641E-5" "01695" "ABCA4_000024" "g.94568687G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94103131G>A" "" "pathogenic (recessive)" ""
"0000955907" "0" "50" "1" "94476818" "94476818" "subst" "0" "01695" "ABCA4_001678" "g.94476818C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94011262C>T" "" "VUS" ""
"0000955908" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000955909" "0" "90" "1" "94508386" "94508386" "subst" "1.62443E-5" "01695" "ABCA4_000642" "g.94508386C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94042830C>T" "" "pathogenic (recessive)" ""
"0000955910" "0" "90" "1" "94508356" "94508356" "subst" "0" "01695" "ABCA4_000635" "g.94508356T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94042800T>A" "" "pathogenic (recessive)" ""
"0000955911" "0" "70" "1" "94544249" "94544249" "subst" "8.12196E-6" "01695" "ABCA4_000323" "g.94544249A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94078693A>G" "" "likely pathogenic (recessive)" ""
"0000955912" "0" "90" "1" "94546283" "94546283" "subst" "8.18311E-5" "01695" "ABCA4_000356" "g.94546283A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94080727A>G" "" "pathogenic (recessive)" ""
"0000955913" "3" "70" "1" "94506907" "94506907" "subst" "0" "01695" "ABCA4_000624" "g.94506907C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94041351C>T" "" "likely pathogenic (recessive)" ""
"0000955914" "3" "70" "1" "94506907" "94506907" "subst" "0" "01695" "ABCA4_000624" "g.94506907C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94041351C>T" "" "likely pathogenic (recessive)" ""
"0000955915" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000955916" "0" "70" "1" "94543269" "94543269" "subst" "0.000179087" "01695" "ABCA4_000307" "g.94543269G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94077713G>A" "" "likely pathogenic (recessive)" ""
"0000955917" "0" "70" "1" "94543269" "94543269" "subst" "0.000179087" "01695" "ABCA4_000307" "g.94543269G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94077713G>A" "" "likely pathogenic (recessive)" ""
"0000955918" "3" "90" "1" "94490567" "94490567" "subst" "5.68528E-5" "01695" "ABCA4_000026" "g.94490567G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94025011G>A" "" "pathogenic (recessive)" ""
"0000955919" "0" "70" "1" "94528161" "94528199" "del" "0" "01695" "ABCA4_002811" "g.94528161_94528199del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "1874_1912del39" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94062605_94062643del" "" "likely pathogenic (recessive)" ""
"0000955920" "0" "90" "1" "94508435" "94508436" "dup" "0" "01695" "ABCA4_000998" "g.94508435_94508436dup" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94042879_94042880dup" "" "pathogenic (recessive)" ""
"0000955921" "0" "50" "1" "94576989" "94576989" "subst" "0" "01695" "ABCA4_002831" "g.94576989C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94111433C>G" "" "VUS" ""
"0000955922" "0" "90" "1" "94508386" "94508386" "subst" "0" "01695" "ABCA4_000643" "g.94508386C>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94042830C>A" "" "pathogenic (recessive)" ""
"0000955923" "0" "90" "1" "94526212" "94526212" "subst" "1.22012E-5" "01695" "ABCA4_000075" "g.94526212G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94060656G>A" "" "pathogenic (recessive)" ""
"0000955924" "0" "90" "1" "94526091" "94526091" "subst" "0" "01695" "ABCA4_002052" "g.94526091A>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94060535A>C" "" "pathogenic (recessive)" ""
"0000955925" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000955926" "0" "50" "1" "94481310" "94481310" "subst" "0" "01695" "ABCA4_002781" "g.94481310A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94015754A>G" "" "VUS" ""
"0000955927" "0" "70" "1" "94480146" "94480146" "subst" "2.84273E-5" "01695" "ABCA4_000122" "g.94480146T>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94014590T>C" "" "likely pathogenic (recessive)" ""
"0000955928" "0" "90" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94063250A>G" "" "pathogenic (recessive)" ""
"0000955929" "3" "90" "1" "94463488" "94463488" "subst" "5.2803E-5" "01695" "ABCA4_000802" "g.94463488G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.93997932G>A" "" "pathogenic (recessive)" ""
"0000955930" "3" "90" "1" "94463488" "94463488" "subst" "5.2803E-5" "01695" "ABCA4_000802" "g.94463488G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.93997932G>A" "" "pathogenic (recessive)" ""
"0000955931" "0" "50" "1" "94526289" "94526289" "subst" "0.000417202" "01695" "ABCA4_000767" "g.94526289A>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94060733A>C" "" "VUS" ""
"0000955932" "3" "30" "1" "94506975" "94506975" "subst" "4.06227E-6" "01695" "ABCA4_001915" "g.94506975A>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94041419A>C" "" "likely benign" ""
"0000955933" "3" "90" "1" "94466627" "94466627" "subst" "4.06408E-6" "01695" "ABCA4_000867" "g.94466627C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94001071C>T" "" "pathogenic (recessive)" ""
"0000955934" "3" "90" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94063250A>G" "" "pathogenic (recessive)" ""
"0000955935" "0" "90" "1" "94528132" "94528132" "subst" "4.06835E-6" "01695" "ABCA4_000773" "g.94528132C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94062576C>T" "" "pathogenic (recessive)" ""
"0000955936" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000955937" "3" "70" "1" "94564399" "94564399" "subst" "0" "01695" "ABCA4_001412" "g.94564399A>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94098843A>C" "" "likely pathogenic (recessive)" ""
"0000955938" "0" "90" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94063250A>G" "" "pathogenic (recessive)" ""
"0000955939" "0" "90" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94031110G>A" "" "pathogenic (recessive)" ""
"0000955940" "0" "70" "1" "94506805" "94506805" "subst" "2.03051E-5" "01695" "ABCA4_001294" "g.94506805C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94041249C>T" "" "likely pathogenic (recessive)" ""
"0000955941" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000955942" "0" "90" "1" "94522239" "94522239" "subst" "2.03305E-5" "01695" "ABCA4_000736" "g.94522239A>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94056683A>T" "" "pathogenic (recessive)" ""
"0000955943" "3" "90" "1" "94463488" "94463488" "subst" "5.2803E-5" "01695" "ABCA4_000802" "g.94463488G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.93997932G>A" "" "pathogenic (recessive)" ""
"0000955944" "0" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic (recessive)" ""
"0000955945" "0" "90" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94010795C>T" "" "pathogenic (recessive)" ""
"0000955946" "0" "70" "1" "94544249" "94544249" "subst" "8.12196E-6" "01695" "ABCA4_000323" "g.94544249A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94078693A>G" "" "likely pathogenic (recessive)" ""
"0000955947" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000955948" "0" "90" "1" "94506923" "94506923" "subst" "2.43657E-5" "01695" "ABCA4_000012" "g.94506923C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94041367C>T" "" "pathogenic (recessive)" ""
"0000955949" "0" "90" "1" "94495009" "94495009" "del" "0" "01695" "ABCA4_000534" "g.94495009del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94029453del" "" "pathogenic (recessive)" ""
"0000955950" "0" "70" "1" "94528713" "94528713" "subst" "4.87381E-5" "01695" "ABCA4_000072" "g.94528713C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94063157C>T" "" "likely pathogenic (recessive)" ""
"0000955951" "0" "90" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94029515C>T" "" "pathogenic (recessive)" ""
"0000955952" "0" "90" "1" "94487251" "94487251" "subst" "2.85679E-5" "01695" "ABCA4_000490" "g.94487251G>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94021695G>T" "" "pathogenic (recessive)" ""
"0000955953" "0" "90" "1" "94586550" "94586550" "subst" "1.21864E-5" "01695" "ABCA4_000037" "g.94586550G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94120994G>A" "" "pathogenic (recessive)" ""
"0000955954" "0" "50" "1" "94495072" "94495072" "subst" "0" "01695" "ABCA4_001422" "g.94495072A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94029516A>G" "" "VUS" ""
"0000955955" "0" "50" "1" "94495072" "94495072" "subst" "0" "01695" "ABCA4_001422" "g.94495072A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94029516A>G" "" "VUS" ""
"0000955956" "0" "70" "1" "94517225" "94517225" "subst" "8.12249E-6" "01695" "ABCA4_000703" "g.94517225A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94051669A>G" "" "likely pathogenic (recessive)" ""
"0000955957" "0" "90" "1" "94510253" "94510253" "subst" "0.000247694" "01695" "ABCA4_000108" "g.94510253A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94044697A>G" "" "pathogenic (recessive)" ""
"0000955958" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000955959" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000955960" "0" "90" "1" "94544185" "94544185" "subst" "8.12137E-6" "01695" "ABCA4_000177" "g.94544185C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94078629C>T" "" "pathogenic (recessive)" ""
"0000955961" "0" "90" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94029515C>T" "" "pathogenic (recessive)" ""
"0000955962" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000955963" "0" "90" "1" "94528780" "94528780" "subst" "0" "01695" "ABCA4_002097" "g.94528780C>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94063224C>A" "" "pathogenic (recessive)" ""
"0000955964" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000955965" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000955966" "0" "90" "1" "94577048" "94577049" "dup" "0" "01695" "ABCA4_002832" "g.94577048_94577049dup" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94111492_94111493dup" "" "pathogenic (recessive)" ""
"0000955967" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000955968" "0" "70" "1" "94543281" "94543281" "subst" "4.0661E-6" "01695" "ABCA4_000309" "g.94543281C>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94077725C>A" "" "likely pathogenic (recessive)" ""
"0000955969" "0" "90" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94031110G>A" "" "pathogenic (recessive)" ""
"0000955970" "0" "90" "1" "94481294" "94481294" "subst" "0" "01695" "ABCA4_000110" "g.94481294C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94015738C>T" "" "pathogenic (recessive)" ""
"0000955971" "0" "70" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94001068C>T" "" "likely pathogenic (recessive)" ""
"0000955972" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94062710G>A" "" "pathogenic (recessive)" ""
"0000955973" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000955974" "0" "90" "1" "94528251" "94528251" "subst" "2.84824E-5" "01695" "ABCA4_000281" "g.94528251C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94062695C>T" "" "pathogenic (recessive)" ""
"0000955975" "0" "70" "1" "94528713" "94528713" "subst" "4.87381E-5" "01695" "ABCA4_000072" "g.94528713C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94063157C>T" "" "likely pathogenic (recessive)" ""
"0000955976" "0" "90" "1" "94526296" "94526296" "subst" "1.64555E-5" "01695" "ABCA4_000768" "g.94526296G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94060740G>A" "" "pathogenic (recessive)" ""
"0000955977" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000955978" "0" "90" "1" "94480178" "94480178" "subst" "2.43692E-5" "01695" "ABCA4_000005" "g.94480178G>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94014622G>T" "" "pathogenic (recessive)" ""
"0000955979" "0" "70" "1" "94487436" "94487436" "subst" "2.03047E-5" "01695" "ABCA4_000498" "g.94487436A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94021880A>G" "" "likely pathogenic (recessive)" ""
"0000955980" "0" "50" "1" "94528157" "94528157" "subst" "0" "01695" "ABCA4_001471" "g.94528157G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94062601G>A" "" "VUS" ""
"0000955981" "0" "50" "1" "94520732" "94520732" "subst" "0" "01695" "ABCA4_000973" "g.94520732T>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94055176T>G" "" "VUS" ""
"0000955982" "0" "90" "1" "94526296" "94526296" "subst" "1.64555E-5" "01695" "ABCA4_000768" "g.94526296G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94060740G>A" "" "pathogenic (recessive)" ""
"0000955983" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000955984" "0" "90" "1" "94496547" "94496547" "subst" "1.21904E-5" "01695" "ABCA4_000559" "g.94496547C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94030991C>T" "" "pathogenic (recessive)" ""
"0000955985" "3" "90" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94005509G>A" "" "pathogenic (recessive)" ""
"0000955986" "0" "90" "1" "94485137" "94485137" "subst" "0" "01695" "ABCA4_000465" "g.94485137C>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94019581C>A" "" "pathogenic (recessive)" ""
"0000955987" "0" "90" "1" "94544185" "94544185" "subst" "8.12137E-6" "01695" "ABCA4_000177" "g.94544185C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94078629C>T" "" "pathogenic (recessive)" ""
"0000955988" "3" "70" "1" "94463399" "94463413" "del" "0" "01695" "ABCA4_000851" "g.94463399_94463413del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.93997843_93997857del" "" "likely pathogenic (recessive)" ""
"0000955989" "0" "50" "1" "94520694" "94520694" "subst" "8.12414E-6" "01695" "ABCA4_000712" "g.94520694C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94055138C>T" "" "VUS" ""
"0000955990" "0" "70" "1" "94544249" "94544249" "subst" "8.12196E-6" "01695" "ABCA4_000323" "g.94544249A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94078693A>G" "" "likely pathogenic (recessive)" ""
"0000955991" "0" "90" "1" "94506923" "94506923" "subst" "2.43657E-5" "01695" "ABCA4_000012" "g.94506923C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94041367C>T" "" "pathogenic (recessive)" ""
"0000955992" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94062710G>A" "" "pathogenic (recessive)" ""
"0000955993" "0" "90" "1" "94508435" "94508436" "dup" "0" "01695" "ABCA4_000998" "g.94508435_94508436dup" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94042879_94042880dup" "" "pathogenic (recessive)" ""
"0000955994" "0" "90" "1" "94471025" "94471025" "subst" "0.00031698" "01695" "ABCA4_000096" "g.94471025C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94005469C>T" "" "pathogenic (recessive)" ""
"0000955995" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000955996" "0" "90" "1" "94578618" "94578618" "subst" "0.000166918" "01695" "ABCA4_000252" "g.94578618C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94113062C>T" "" "pathogenic (recessive)" ""
"0000955997" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000955998" "3" "70" "1" "94463399" "94463413" "del" "0" "01695" "ABCA4_000851" "g.94463399_94463413del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.93997843_93997857del" "" "likely pathogenic (recessive)" ""
"0000955999" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000956000" "3" "90" "1" "94528132" "94528132" "subst" "4.06835E-6" "01695" "ABCA4_000773" "g.94528132C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94062576C>T" "" "pathogenic (recessive)" ""
"0000956001" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94062710G>A" "" "pathogenic (recessive)" ""
"0000956002" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000956003" "0" "70" "1" "94544249" "94544249" "subst" "8.12196E-6" "01695" "ABCA4_000323" "g.94544249A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94078693A>G" "" "likely pathogenic (recessive)" ""
"0000956004" "0" "50" "1" "94496509" "94496509" "subst" "0.00475243" "01695" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94030953C>T" "" "VUS" ""
"0000956005" "0" "70" "1" "94495077" "94495077" "subst" "8.39461E-6" "01695" "ABCA4_000541" "g.94495077C>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94029521C>A" "" "likely pathogenic (recessive)" ""
"0000956006" "3" "90" "1" "94490550" "94490550" "subst" "0.000105588" "01695" "ABCA4_000523" "g.94490550C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94024994C>T" "" "pathogenic (recessive)" ""
"0000956007" "0" "70" "1" "94509018" "94509018" "subst" "8.12869E-6" "01695" "ABCA4_000659" "g.94509018C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94043462C>T" "" "likely pathogenic (recessive)" ""
"0000956008" "0" "90" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94063250A>G" "" "pathogenic (recessive)" ""
"0000956009" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000956010" "0" "90" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94031110G>A" "" "pathogenic (recessive)" ""
"0000956011" "3" "70" "1" "94485164" "94485164" "subst" "0" "01695" "ABCA4_001515" "g.94485164A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94019608A>G" "" "likely pathogenic (recessive)" ""
"0000956012" "3" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000956013" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000956014" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000956015" "0" "50" "1" "94508421" "94508421" "subst" "0" "01695" "ABCA4_001936" "g.94508421G>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94042865G>T" "" "VUS" ""
"0000956016" "3" "70" "1" "94463399" "94463413" "del" "0" "01695" "ABCA4_000851" "g.94463399_94463413del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.93997843_93997857del" "" "likely pathogenic (recessive)" ""
"0000956017" "3" "70" "1" "94463399" "94463413" "del" "0" "01695" "ABCA4_000851" "g.94463399_94463413del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.93997843_93997857del" "" "likely pathogenic (recessive)" ""
"0000956018" "3" "70" "1" "94512481" "94512481" "subst" "4.06524E-6" "01695" "ABCA4_000679" "g.94512481G>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94046925G>T" "" "likely pathogenic (recessive)" ""
"0000956019" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000956020" "0" "90" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94031110G>A" "" "pathogenic (recessive)" ""
"0000956021" "0" "90" "1" "94463488" "94463488" "subst" "5.2803E-5" "01695" "ABCA4_000802" "g.94463488G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.93997932G>A" "" "pathogenic (recessive)" ""
"0000956022" "0" "70" "1" "94577010" "94577010" "subst" "0" "01695" "ABCA4_002222" "g.94577010T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94111454T>A" "" "likely pathogenic (recessive)" ""
"0000956023" "3" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "De novo" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000956024" "3" "70" "1" "94544249" "94544249" "subst" "8.12196E-6" "01695" "ABCA4_000323" "g.94544249A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94078693A>G" "" "likely pathogenic (recessive)" ""
"0000956025" "0" "70" "1" "94496589" "94496589" "subst" "0" "01695" "ABCA4_000568" "g.94496589G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94031033G>A" "" "likely pathogenic (recessive)" ""
"0000956026" "0" "50" "1" "94512550" "94512550" "subst" "0" "01695" "ABCA4_002700" "g.94512550C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94046994C>G" "" "VUS" ""
"0000956027" "0" "90" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94098928G>A" "" "pathogenic (recessive)" ""
"0000956028" "3" "90" "1" "94471056" "94471056" "subst" "2.84398E-5" "01695" "ABCA4_000050" "g.94471056G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94005500G>A" "" "pathogenic (recessive)" ""
"0000956029" "0" "50" "1" "94496509" "94496509" "subst" "0.00475243" "01695" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94030953C>T" "" "VUS" ""
"0000956030" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000956031" "0" "90" "1" "94508353" "94508353" "subst" "2.8431E-5" "01695" "ABCA4_000141" "g.94508353G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94042797G>A" "" "pathogenic (recessive)" ""
"0000956032" "0" "90" "1" "94520801" "94520801" "subst" "0.000211489" "01695" "ABCA4_000724" "g.94520801C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94055245C>T" "" "pathogenic (recessive)" ""
"0000956033" "0" "90" "1" "94497392" "94497392" "subst" "0" "01695" "ABCA4_000577" "g.94497392G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94031836G>A" "" "pathogenic (recessive)" ""
"0000956034" "0" "90" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94029515C>T" "" "pathogenic (recessive)" ""
"0000956035" "0" "90" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94010795C>T" "" "pathogenic (recessive)" ""
"0000956036" "3" "90" "1" "94577082" "94577082" "subst" "2.84315E-5" "01695" "ABCA4_000232" "g.94577082C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94111526C>T" "" "pathogenic (recessive)" ""
"0000956037" "0" "90" "1" "94508455" "94508455" "subst" "8.12434E-6" "01695" "ABCA4_000649" "g.94508455C>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94042899C>A" "" "pathogenic (recessive)" ""
"0000956038" "0" "50" "1" "94496509" "94496509" "subst" "0.00475243" "01695" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94030953C>T" "" "VUS" ""
"0000956039" "3" "90" "1" "94508342" "94508342" "subst" "0" "01695" "ABCA4_000631" "g.94508342C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94042786C>T" "" "pathogenic (recessive)" ""
"0000956040" "3" "70" "1" "94473263" "94473263" "subst" "0" "01695" "ABCA4_000097" "g.94473263T>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94007707T>C" "" "likely pathogenic (recessive)" ""
"0000956041" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000956042" "0" "90" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94046943T>C" "" "pathogenic (recessive)" ""
"0000956043" "0" "70" "1" "94512481" "94512481" "subst" "4.06524E-6" "01695" "ABCA4_000679" "g.94512481G>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94046925G>T" "" "likely pathogenic (recessive)" ""
"0000956044" "0" "90" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94031110G>A" "" "pathogenic (recessive)" ""
"0000956045" "0" "70" "1" "94496010" "94496010" "subst" "1.62434E-5" "01695" "ABCA4_000549" "g.94496010G>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94030454G>T" "" "likely pathogenic (recessive)" ""
"0000956046" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94062710G>A" "" "pathogenic (recessive)" ""
"0000956047" "0" "90" "1" "94528666" "94528666" "subst" "0" "01695" "ABCA4_002086" "g.94528666A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94063110A>G" "" "pathogenic (recessive)" ""
"0000956048" "3" "70" "1" "94463399" "94463413" "del" "0" "01695" "ABCA4_000851" "g.94463399_94463413del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.93997843_93997857del" "" "likely pathogenic (recessive)" ""
"0000956049" "0" "90" "1" "94577135" "94577135" "subst" "2.43718E-5" "01695" "ABCA4_000240" "g.94577135C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94111579C>T" "" "pathogenic (recessive)" ""
"0000956050" "3" "70" "1" "94463399" "94463413" "del" "0" "01695" "ABCA4_000851" "g.94463399_94463413del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.93997843_93997857del" "" "likely pathogenic (recessive)" ""
"0000956051" "0" "90" "1" "94586576" "94586576" "dup" "0" "01695" "ABCA4_002252" "g.94586576dup" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94121020dup" "" "pathogenic (recessive)" ""
"0000956052" "0" "90" "1" "94577135" "94577135" "subst" "2.43718E-5" "01695" "ABCA4_000240" "g.94577135C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94111579C>T" "" "pathogenic (recessive)" ""
"0000956053" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000956054" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000956055" "0" "90" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94063250A>G" "" "pathogenic (recessive)" ""
"0000956056" "0" "90" "1" "94544163" "94544163" "subst" "0" "01695" "ABCA4_002129" "g.94544163G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94078607G>A" "" "pathogenic (recessive)" ""
"0000956057" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000956058" "0" "70" "1" "94506959" "94506959" "subst" "8.12321E-6" "01695" "ABCA4_001078" "g.94506959C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94041403C>T" "" "likely pathogenic (recessive)" ""
"0000956059" "3" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000956060" "0" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic (recessive)" ""
"0000956061" "0" "30" "1" "94528736" "94528736" "subst" "0.000235562" "01695" "ABCA4_001237" "g.94528736T>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94063180T>C" "" "likely benign" ""
"0000956062" "0" "90" "1" "94496548" "94496548" "subst" "2.43787E-5" "01695" "ABCA4_000088" "g.94496548G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94030992G>A" "" "pathogenic (recessive)" ""
"0000956063" "0" "70" "1" "94496589" "94496589" "subst" "0" "01695" "ABCA4_000568" "g.94496589G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94031033G>A" "" "likely pathogenic (recessive)" ""
"0000956064" "3" "90" "1" "94473266" "94473266" "subst" "8.14677E-6" "01695" "ABCA4_000389" "g.94473266C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94007710C>T" "" "pathogenic (recessive)" ""
"0000956065" "0" "90" "1" "94578583" "94578583" "del" "0" "01695" "ABCA4_000248" "g.94578583del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94113027del" "" "pathogenic (recessive)" ""
"0000956066" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000956067" "0" "90" "1" "94509026" "94509026" "subst" "4.06497E-5" "01695" "ABCA4_000660" "g.94509026G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94043470G>A" "" "pathogenic (recessive)" ""
"0000956068" "0" "70" "1" "94512580" "94512580" "subst" "2.8431E-5" "01695" "ABCA4_000695" "g.94512580A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94047024A>G" "" "likely pathogenic (recessive)" ""
"0000956069" "3" "70" "1" "94509018" "94509018" "subst" "8.12869E-6" "01695" "ABCA4_000659" "g.94509018C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94043462C>T" "" "likely pathogenic (recessive)" ""
"0000956070" "0" "90" "1" "94577135" "94577135" "subst" "2.43718E-5" "01695" "ABCA4_000240" "g.94577135C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94111579C>T" "" "pathogenic (recessive)" ""
"0000956071" "0" "90" "1" "94528164" "94528164" "subst" "2.03336E-5" "01695" "ABCA4_000267" "g.94528164G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94062608G>A" "" "pathogenic (recessive)" ""
"0000956072" "3" "90" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94010795C>T" "" "pathogenic (recessive)" ""
"0000956073" "0" "90" "1" "94495009" "94495009" "dup" "0" "01695" "ABCA4_000087" "g.94495009dup" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94029453dup" "" "pathogenic (recessive)" ""
"0000956074" "0" "90" "1" "94544895" "94544895" "subst" "1.62455E-5" "01695" "ABCA4_000329" "g.94544895G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94079339G>A" "" "pathogenic (recessive)" ""
"0000956075" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000956076" "0" "90" "1" "94490567" "94490567" "subst" "5.68528E-5" "01695" "ABCA4_000026" "g.94490567G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94025011G>A" "" "pathogenic (recessive)" ""
"0000956077" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000956078" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000956079" "0" "70" "1" "94544167" "94544167" "subst" "8.12269E-6" "01695" "ABCA4_000316" "g.94544167G>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94078611G>C" "" "likely pathogenic (recessive)" ""
"0000956080" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000956081" "0" "90" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94010795C>T" "" "pathogenic (recessive)" ""
"0000956082" "0" "70" "1" "94544167" "94544167" "subst" "8.12269E-6" "01695" "ABCA4_000316" "g.94544167G>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94078611G>C" "" "likely pathogenic (recessive)" ""
"0000956083" "0" "70" "1" "94528713" "94528713" "subst" "4.87381E-5" "01695" "ABCA4_000072" "g.94528713C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94063157C>T" "" "likely pathogenic (recessive)" ""
"0000956084" "0" "70" "1" "94512566" "94512566" "subst" "7.31149E-5" "01695" "ABCA4_000693" "g.94512566G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94047010G>A" "" "likely pathogenic (recessive)" ""
"0000956085" "0" "90" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94031110G>A" "" "pathogenic (recessive)" ""
"0000956086" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000956087" "3" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000956088" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000956089" "0" "90" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94031110G>A" "" "pathogenic (recessive)" ""
"0000956090" "0" "90" "1" "94495177" "94495177" "subst" "1.22342E-5" "01695" "ABCA4_000023" "g.94495177A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94029621A>G" "" "pathogenic (recessive)" ""
"0000956091" "0" "50" "1" "94506895" "94506895" "subst" "0" "01695" "ABCA4_002800" "g.94506895G>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94041339G>C" "" "VUS" ""
"0000956092" "0" "50" "1" "94506895" "94506895" "subst" "0" "01695" "ABCA4_002800" "g.94506895G>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94041339G>C" "" "VUS" ""
"0000956093" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000956094" "0" "90" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94029515C>T" "" "pathogenic (recessive)" ""
"0000956095" "0" "70" "1" "94508448" "94508448" "subst" "4.06147E-6" "01695" "ABCA4_001941" "g.94508448A>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94042892A>C" "" "likely pathogenic (recessive)" ""
"0000956096" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000956097" "0" "70" "1" "94508383" "94508383" "subst" "0" "01695" "ABCA4_001299" "g.94508383G>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94042827G>T" "" "likely pathogenic (recessive)" ""
"0000956098" "3" "90" "1" "94473293" "94473293" "del" "0" "01695" "ABCA4_001641" "g.94473293del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94007737del" "" "pathogenic (recessive)" ""
"0000956099" "0" "90" "1" "94528164" "94528164" "subst" "2.03336E-5" "01695" "ABCA4_000267" "g.94528164G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94062608G>A" "" "pathogenic (recessive)" ""
"0000956100" "3" "70" "1" "94490573" "94490573" "subst" "0" "01695" "ABCA4_001789" "g.94490573T>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94025017T>C" "" "likely pathogenic (recessive)" ""
"0000956101" "0" "50" "1" "94574198" "94574198" "subst" "0" "01695" "ABCA4_002829" "g.94574198C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94108642C>T" "" "VUS" ""
"0000956102" "0" "50" "1" "94574198" "94574198" "subst" "0" "01695" "ABCA4_002829" "g.94574198C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94108642C>T" "" "VUS" ""
"0000956103" "0" "90" "1" "94496555" "94496568" "del" "0" "01695" "ABCA4_002792" "g.94496555_94496568del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94030999_94031012del" "" "pathogenic (recessive)" ""
"0000956104" "0" "50" "1" "94528774" "94528774" "subst" "0.00264827" "01695" "ABCA4_000298" "g.94528774C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94063218C>T" "" "VUS" ""
"0000956105" "0" "50" "1" "94546029" "94546029" "subst" "0" "01695" "ABCA4_002822" "g.94546029C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94080473C>G" "" "VUS" ""
"0000956106" "0" "70" "1" "94544249" "94544249" "subst" "8.12196E-6" "01695" "ABCA4_000323" "g.94544249A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94078693A>G" "" "likely pathogenic (recessive)" ""
"0000956107" "0" "90" "1" "94544895" "94544895" "subst" "1.62455E-5" "01695" "ABCA4_000329" "g.94544895G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94079339G>A" "" "pathogenic (recessive)" ""
"0000956108" "0" "90" "1" "94495078" "94495078" "subst" "8.37044E-6" "01695" "ABCA4_000042" "g.94495078A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94029522A>G" "" "pathogenic (recessive)" ""
"0000956109" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94062710G>A" "" "pathogenic (recessive)" ""
"0000956110" "0" "90" "1" "94510248" "94510248" "subst" "0.000544123" "01695" "ABCA4_000107" "g.94510248C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94044692C>G" "" "pathogenic (recessive)" ""
"0000956111" "0" "90" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94029515C>T" "" "pathogenic (recessive)" ""
"0000956112" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000956113" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000956114" "0" "90" "1" "94528780" "94528780" "subst" "4.06171E-6" "01695" "ABCA4_000299" "g.94528780C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94063224C>T" "" "pathogenic (recessive)" ""
"0000956115" "0" "50" "1" "94528253" "94528253" "subst" "8.13729E-6" "01695" "ABCA4_000767" "g.94528253C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94062697C>T" "" "VUS" ""
"0000956116" "0" "70" "1" "94508340" "94508340" "subst" "4.06171E-6" "01695" "ABCA4_000630" "g.94508340T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94042784T>A" "" "likely pathogenic (recessive)" ""
"0000956117" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000956118" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000956119" "0" "50" "1" "94458738" "94458738" "subst" "0" "01695" "ABCA4_002764" "g.94458738C>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.93993182C>A" "" "VUS" ""
"0000956120" "0" "90" "1" "94495177" "94495177" "subst" "1.22342E-5" "01695" "ABCA4_000023" "g.94495177A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94029621A>G" "" "pathogenic (recessive)" ""
"0000956121" "0" "90" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94063250A>G" "" "pathogenic (recessive)" ""
"0000956122" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000956123" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000956124" "0" "90" "1" "94577135" "94577135" "subst" "2.43718E-5" "01695" "ABCA4_000240" "g.94577135C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94111579C>T" "" "pathogenic (recessive)" ""
"0000956125" "0" "90" "1" "94508435" "94508436" "dup" "0" "01695" "ABCA4_000998" "g.94508435_94508436dup" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94042879_94042880dup" "" "pathogenic (recessive)" ""
"0000956126" "0" "70" "1" "94528702" "94528702" "subst" "1.62468E-5" "01695" "ABCA4_000293" "g.94528702C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94063146C>G" "" "likely pathogenic (recessive)" ""
"0000956127" "0" "90" "1" "94496583" "94496583" "subst" "2.03092E-5" "01695" "ABCA4_000190" "g.94496583A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94031027A>G" "" "pathogenic (recessive)" ""
"0000956128" "3" "90" "1" "94487251" "94487251" "subst" "2.85679E-5" "01695" "ABCA4_000490" "g.94487251G>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94021695G>T" "" "pathogenic (recessive)" ""
"0000956129" "0" "50" "1" "94496509" "94496509" "subst" "0.00475243" "01695" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94030953C>T" "" "VUS" ""
"0000956130" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000956131" "0" "50" "1" "94486941" "94486941" "subst" "0" "01695" "ABCA4_002785" "g.94486941G>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94021385G>T" "" "VUS" ""
"0000956132" "0" "50" "1" "94486941" "94486941" "subst" "0" "01695" "ABCA4_002785" "g.94486941G>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94021385G>T" "" "VUS" ""
"0000956133" "3" "70" "1" "94544249" "94544249" "subst" "8.12196E-6" "01695" "ABCA4_000323" "g.94544249A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94078693A>G" "" "likely pathogenic (recessive)" ""
"0000956134" "0" "70" "1" "94528167" "94528167" "subst" "0" "01695" "ABCA4_000145" "g.94528167G>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94062611G>T" "" "likely pathogenic (recessive)" ""
"0000956135" "0" "50" "1" "94497395" "94497395" "subst" "4.08203E-6" "01695" "ABCA4_002794" "g.94497395T>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94031839T>G" "" "VUS" ""
"0000956136" "0" "90" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94010795C>T" "" "pathogenic (recessive)" ""
"0000956137" "0" "50" "1" "94528142" "94528142" "subst" "0.00153303" "01695" "ABCA4_000125" "g.94528142A>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94062586A>C" "" "VUS" ""
"0000956138" "3" "90" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94005509G>A" "" "pathogenic (recessive)" ""
"0000956139" "0" "50" "1" "94528214" "94528214" "subst" "0" "01695" "ABCA4_002812" "g.94528214A>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94062658A>T" "" "VUS" ""
"0000956140" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000956141" "0" "70" "1" "94495077" "94495077" "subst" "8.39461E-6" "01695" "ABCA4_000541" "g.94495077C>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94029521C>A" "" "likely pathogenic (recessive)" ""
"0000956142" "3" "70" "1" "94544249" "94544249" "subst" "8.12196E-6" "01695" "ABCA4_000323" "g.94544249A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94078693A>G" "" "likely pathogenic (recessive)" ""
"0000956143" "0" "90" "1" "94520665" "94520665" "subst" "0" "01695" "ABCA4_000707" "g.94520665A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94055109A>G" "" "pathogenic (recessive)" ""
"0000956144" "0" "90" "1" "94490567" "94490567" "subst" "5.68528E-5" "01695" "ABCA4_000026" "g.94490567G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94025011G>A" "" "pathogenic (recessive)" ""
"0000956145" "3" "70" "1" "94506935" "94506935" "subst" "4.06098E-6" "01695" "ABCA4_000626" "g.94506935G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94041379G>A" "" "likely pathogenic (recessive)" ""
"0000956146" "0" "90" "1" "94490567" "94490567" "subst" "5.68528E-5" "01695" "ABCA4_000026" "g.94490567G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94025011G>A" "" "pathogenic (recessive)" ""
"0000956147" "3" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000956148" "0" "90" "1" "94544185" "94544185" "subst" "8.12137E-6" "01695" "ABCA4_000177" "g.94544185C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94078629C>T" "" "pathogenic (recessive)" ""
"0000956149" "0" "90" "1" "94528164" "94528164" "subst" "2.03336E-5" "01695" "ABCA4_000267" "g.94528164G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94062608G>A" "" "pathogenic (recessive)" ""
"0000956150" "0" "50" "1" "94520858" "94520858" "subst" "5.70683E-5" "01695" "ABCA4_002362" "g.94520858G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94055302G>A" "" "VUS" ""
"0000956151" "0" "50" "1" "94528142" "94528142" "subst" "0.00153303" "01695" "ABCA4_000125" "g.94528142A>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94062586A>C" "" "VUS" ""
"0000956152" "0" "90" "1" "94528780" "94528780" "subst" "4.06171E-6" "01695" "ABCA4_000299" "g.94528780C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94063224C>T" "" "pathogenic (recessive)" ""
"0000956153" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000956154" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "01695" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" ""
"0000956155" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000956156" "0" "90" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94063250A>G" "" "pathogenic (recessive)" ""
"0000956157" "0" "70" "1" "94544249" "94544249" "subst" "8.12196E-6" "01695" "ABCA4_000323" "g.94544249A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94078693A>G" "" "likely pathogenic (recessive)" ""
"0000956158" "0" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic (recessive)" ""
"0000956159" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000956160" "0" "90" "1" "94495002" "94495002" "subst" "0" "01695" "ABCA4_000533" "g.94495002T>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94029446T>C" "" "pathogenic (recessive)" ""
"0000956161" "0" "90" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94029515C>T" "" "pathogenic (recessive)" ""
"0000956162" "0" "90" "1" "94496571" "94496571" "subst" "4.06174E-6" "01695" "ABCA4_000111" "g.94496571G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94031015G>A" "" "pathogenic (recessive)" ""
"0000956163" "0" "90" "1" "94471046" "94471046" "subst" "0" "01695" "ABCA4_000793" "g.94471046A>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94005490A>C" "" "pathogenic (recessive)" ""
"0000956164" "0" "50" "1" "94564499" "94564499" "subst" "2.45767E-5" "01695" "ABCA4_002407" "g.94564499C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94098943C>T" "" "VUS" ""
"0000956165" "0" "90" "1" "94485137" "94485137" "subst" "0" "01695" "ABCA4_000464" "g.94485137C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94019581C>T" "" "pathogenic (recessive)" ""
"0000956166" "0" "90" "1" "94574244" "94574245" "del" "0" "01695" "ABCA4_002830" "g.94574244_94574245del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94108688_94108689del" "" "pathogenic (recessive)" ""
"0000956167" "0" "90" "1" "94497365" "94497365" "dup" "0" "01695" "ABCA4_002793" "g.94497365dup" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94031809dup" "" "pathogenic (recessive)" ""
"0000956168" "3" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000956169" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000956170" "0" "50" "1" "94528253" "94528253" "subst" "8.13729E-6" "01695" "ABCA4_000767" "g.94528253C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94062697C>T" "" "VUS" ""
"0000956171" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000956172" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000956173" "3" "70" "1" "94463399" "94463413" "del" "0" "01695" "ABCA4_000851" "g.94463399_94463413del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.93997843_93997857del" "" "likely pathogenic (recessive)" ""
"0000956174" "0" "90" "1" "94526212" "94526212" "subst" "1.22012E-5" "01695" "ABCA4_000075" "g.94526212G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94060656G>A" "" "pathogenic (recessive)" ""
"0000956175" "3" "90" "1" "94526296" "94526296" "subst" "1.64555E-5" "01695" "ABCA4_000768" "g.94526296G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94060740G>A" "" "pathogenic (recessive)" ""
"0000956176" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94062710G>A" "" "pathogenic (recessive)" ""
"0000956177" "3" "70" "1" "94509018" "94509018" "subst" "8.12869E-6" "01695" "ABCA4_000659" "g.94509018C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94043462C>T" "" "likely pathogenic (recessive)" ""
"0000956178" "3" "70" "1" "94509018" "94509018" "subst" "8.12869E-6" "01695" "ABCA4_000659" "g.94509018C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94043462C>T" "" "likely pathogenic (recessive)" ""
"0000956179" "3" "90" "1" "94490567" "94490567" "subst" "5.68528E-5" "01695" "ABCA4_000026" "g.94490567G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94025011G>A" "" "pathogenic (recessive)" ""
"0000956180" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000956181" "0" "50" "1" "94528214" "94528214" "subst" "0" "01695" "ABCA4_002812" "g.94528214A>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94062658A>T" "" "VUS" ""
"0000956182" "0" "50" "1" "94476377" "94476377" "subst" "0.00160473" "01695" "ABCA4_000411" "g.94476377C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94010821C>T" "" "VUS" ""
"0000956183" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000956184" "0" "90" "1" "94577135" "94577135" "subst" "2.43718E-5" "01695" "ABCA4_000240" "g.94577135C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94111579C>T" "" "pathogenic (recessive)" ""
"0000956185" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000956186" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000956187" "0" "50" "1" "94528665" "94528665" "subst" "4.06326E-6" "01695" "ABCA4_002815" "g.94528665C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94063109C>G" "" "VUS" ""
"0000956188" "0" "90" "1" "94526230" "94526230" "subst" "7.32136E-5" "01695" "ABCA4_000760" "g.94526230C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94060674C>T" "" "pathogenic (recessive)" ""
"0000956189" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000956190" "0" "70" "1" "94480146" "94480146" "subst" "2.84273E-5" "01695" "ABCA4_000122" "g.94480146T>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94014590T>C" "" "likely pathogenic (recessive)" ""
"0000956191" "0" "70" "1" "94586549" "94586549" "subst" "0" "01695" "ABCA4_001028" "g.94586549C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94120993C>T" "" "likely pathogenic (recessive)" ""
"0000956192" "0" "90" "1" "94495177" "94495177" "subst" "1.22342E-5" "01695" "ABCA4_000023" "g.94495177A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94029621A>G" "" "pathogenic (recessive)" ""
"0000956193" "0" "90" "1" "94484082" "94484082" "subst" "0" "01695" "ABCA4_000028" "g.94484082T>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94018526T>C" "" "pathogenic (recessive)" ""
"0000956194" "0" "50" "1" "94522384" "94522384" "subst" "0" "01695" "ABCA4_002051" "g.94522384A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94056828A>G" "" "VUS" ""
"0000956195" "0" "70" "1" "94509018" "94509018" "subst" "8.12869E-6" "01695" "ABCA4_000659" "g.94509018C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94043462C>T" "" "likely pathogenic (recessive)" ""
"0000956196" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000956197" "0" "90" "1" "94508353" "94508353" "subst" "2.8431E-5" "01695" "ABCA4_000141" "g.94508353G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94042797G>A" "" "pathogenic (recessive)" ""
"0000956198" "0" "90" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94031110G>A" "" "pathogenic (recessive)" ""
"0000956199" "0" "50" "1" "94497398" "94497398" "subst" "0" "01695" "ABCA4_002795" "g.94497398A>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94031842A>T" "" "VUS" ""
"0000956200" "0" "90" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94029515C>T" "" "pathogenic (recessive)" ""
"0000956201" "0" "90" "1" "94495078" "94495078" "subst" "8.37044E-6" "01695" "ABCA4_000042" "g.94495078A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94029522A>G" "" "pathogenic (recessive)" ""
"0000956202" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000956203" "0" "50" "1" "94544209" "94544209" "subst" "0" "01695" "ABCA4_002818" "g.94544209C>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94078653C>A" "" "VUS" ""
"0000956204" "3" "90" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94010795C>T" "" "pathogenic (recessive)" ""
"0000956205" "3" "70" "1" "94509018" "94509018" "subst" "8.12869E-6" "01695" "ABCA4_000659" "g.94509018C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94043462C>T" "" "likely pathogenic (recessive)" ""
"0000956206" "0" "90" "1" "94510248" "94510248" "subst" "0.000544123" "01695" "ABCA4_000107" "g.94510248C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94044692C>G" "" "pathogenic (recessive)" ""
"0000956207" "0" "90" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94031110G>A" "" "pathogenic (recessive)" ""
"0000956208" "0" "90" "1" "94508433" "94508433" "subst" "8.12209E-6" "01695" "ABCA4_000151" "g.94508433G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94042877G>A" "" "pathogenic (recessive)" ""
"0000956209" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000956210" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000956211" "0" "90" "1" "94486866" "94486866" "subst" "0" "01695" "ABCA4_001364" "g.94486866C>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94021310C>A" "" "pathogenic (recessive)" ""
"0000956212" "0" "90" "1" "94486794" "94486794" "subst" "0" "01695" "ABCA4_000478" "g.94486794A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94021238A>G" "" "pathogenic (recessive)" ""
"0000956213" "0" "70" "1" "94528713" "94528713" "subst" "4.87381E-5" "01695" "ABCA4_000072" "g.94528713C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94063157C>T" "" "likely pathogenic (recessive)" ""
"0000956214" "0" "90" "1" "94528164" "94528164" "subst" "2.03336E-5" "01695" "ABCA4_000267" "g.94528164G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94062608G>A" "" "pathogenic (recessive)" ""
"0000956215" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000956216" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000956217" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000956218" "0" "90" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94031110G>A" "" "pathogenic (recessive)" ""
"0000956219" "0" "90" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94063250A>G" "" "pathogenic (recessive)" ""
"0000956220" "3" "70" "1" "94509018" "94509018" "subst" "8.12869E-6" "01695" "ABCA4_000659" "g.94509018C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94043462C>T" "" "likely pathogenic (recessive)" ""
"0000956221" "0" "90" "1" "94496547" "94496547" "subst" "4.06345E-6" "01695" "ABCA4_000559" "g.94496547C>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94030991C>A" "" "pathogenic (recessive)" ""
"0000956222" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "01695" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94062710G>A" "" "pathogenic (recessive)" ""
"0000956223" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000956224" "0" "90" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94063250A>G" "" "pathogenic (recessive)" ""
"0000956225" "0" "90" "1" "94509026" "94509026" "subst" "4.06497E-5" "01695" "ABCA4_000660" "g.94509026G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94043470G>A" "" "pathogenic (recessive)" ""
"0000956226" "0" "90" "1" "94508435" "94508436" "dup" "0" "01695" "ABCA4_000998" "g.94508435_94508436dup" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94042879_94042880dup" "" "pathogenic (recessive)" ""
"0000956227" "0" "90" "1" "94490567" "94490567" "subst" "5.68528E-5" "01695" "ABCA4_000026" "g.94490567G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94025011G>A" "" "pathogenic (recessive)" ""
"0000956228" "0" "90" "1" "94496583" "94496583" "subst" "2.03092E-5" "01695" "ABCA4_000190" "g.94496583A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94031027A>G" "" "pathogenic (recessive)" ""
"0000956229" "3" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000956230" "0" "50" "1" "94522242" "94522242" "subst" "0" "01695" "ABCA4_001541" "g.94522242C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94056686C>T" "" "VUS" ""
"0000956231" "0" "90" "1" "94480247" "94480248" "del" "0" "01695" "ABCA4_002779" "g.94480247_94480248del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94014691_94014692del" "" "pathogenic (recessive)" ""
"0000956232" "0" "50" "1" "94526190" "94526190" "subst" "0" "01695" "ABCA4_002058" "g.94526190T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94060634T>A" "" "VUS" ""
"0000956233" "0" "50" "1" "94568675" "94568675" "subst" "0.00146249" "01695" "ABCA4_000210" "g.94568675T>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94103119T>C" "" "VUS" ""
"0000956234" "0" "50" "1" "94514513" "94514513" "subst" "0" "01695" "ABCA4_002806" "g.94514513C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94048957C>T" "" "VUS" ""
"0000956235" "3" "90" "1" "94481294" "94481294" "subst" "0" "01695" "ABCA4_000110" "g.94481294C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94015738C>T" "" "pathogenic (recessive)" ""
"0000956236" "0" "90" "1" "94544877" "94544877" "subst" "0" "01695" "ABCA4_001477" "g.94544877C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94079321C>T" "" "pathogenic (recessive)" ""
"0000956237" "0" "30" "1" "94543340" "94543340" "subst" "7.71868E-5" "01695" "ABCA4_002119" "g.94543340C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94077784C>T" "" "likely benign" ""
"0000956238" "0" "90" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94063250A>G" "" "pathogenic (recessive)" ""
"0000956239" "0" "90" "1" "94506923" "94506923" "subst" "2.43657E-5" "01695" "ABCA4_000012" "g.94506923C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94041367C>T" "" "pathogenic (recessive)" ""
"0000956240" "0" "90" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94063250A>G" "" "pathogenic (recessive)" ""
"0000956241" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000956242" "0" "50" "1" "94510289" "94510289" "subst" "0.000150245" "01695" "ABCA4_001971" "g.94510289G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94044733G>A" "" "VUS" ""
"0000956243" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000956244" "0" "90" "1" "94480243" "94480243" "subst" "4.06124E-6" "01695" "ABCA4_000448" "g.94480243C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94014687C>T" "" "pathogenic (recessive)" ""
"0000956245" "0" "70" "1" "94506805" "94506805" "subst" "2.03051E-5" "01695" "ABCA4_001294" "g.94506805C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94041249C>T" "" "likely pathogenic (recessive)" ""
"0000956246" "0" "90" "1" "94544159" "94544159" "subst" "2.03079E-5" "01695" "ABCA4_000063" "g.94544159A>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94078603A>T" "" "pathogenic (recessive)" ""
"0000956247" "0" "90" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94031110G>A" "" "pathogenic (recessive)" ""
"0000956248" "0" "50" "1" "94510135" "94510135" "subst" "0.000117813" "01695" "ABCA4_002804" "g.94510135G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94044579G>A" "" "VUS" ""
"0000956249" "0" "90" "1" "94510248" "94510248" "subst" "0.000544123" "01695" "ABCA4_000107" "g.94510248C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94044692C>G" "" "pathogenic (recessive)" ""
"0000956250" "0" "90" "1" "94526296" "94526296" "subst" "1.64555E-5" "01695" "ABCA4_000768" "g.94526296G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94060740G>A" "" "pathogenic (recessive)" ""
"0000956251" "0" "90" "1" "94495083" "94495083" "subst" "0.000124542" "01695" "ABCA4_000542" "g.94495083G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94029527G>A" "" "pathogenic (recessive)" ""
"0000956252" "0" "90" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94063250A>G" "" "pathogenic (recessive)" ""
"0000956253" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000956254" "0" "90" "1" "94543419" "94543419" "subst" "0" "01695" "ABCA4_000188" "g.94543419T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94077863T>A" "" "pathogenic (recessive)" ""
"0000956255" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000956256" "0" "90" "1" "94512478" "94512478" "subst" "3.65871E-5" "01695" "ABCA4_000678" "g.94512478G>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94046922G>T" "" "pathogenic (recessive)" ""
"0000956257" "0" "90" "1" "94508356" "94508356" "subst" "0" "01695" "ABCA4_000635" "g.94508356T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94042800T>A" "" "pathogenic (recessive)" ""
"0000956258" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000956259" "0" "70" "1" "94497338" "94497338" "subst" "4.09836E-6" "01695" "ABCA4_001462" "g.94497338G>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94031782G>T" "" "likely pathogenic (recessive)" ""
"0000956260" "0" "90" "1" "94520690" "94520690" "subst" "2.03102E-5" "01695" "ABCA4_000149" "g.94520690C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94055134C>T" "" "pathogenic (recessive)" ""
"0000956261" "0" "90" "1" "94486794" "94486794" "subst" "0" "01695" "ABCA4_000478" "g.94486794A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94021238A>G" "" "pathogenic (recessive)" ""
"0000956262" "0" "90" "1" "94510253" "94510253" "subst" "0.000247694" "01695" "ABCA4_000108" "g.94510253A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94044697A>G" "" "pathogenic (recessive)" ""
"0000956263" "0" "90" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94063250A>G" "" "pathogenic (recessive)" ""
"0000956264" "0" "90" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94063250A>G" "" "pathogenic (recessive)" ""
"0000956265" "0" "90" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94063250A>G" "" "pathogenic (recessive)" ""
"0000956266" "0" "90" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94063250A>G" "" "pathogenic (recessive)" ""
"0000956267" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000956268" "0" "70" "1" "94522274" "94522274" "subst" "0" "01695" "ABCA4_001470" "g.94522274G>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94056718G>C" "" "likely pathogenic (recessive)" ""
"0000956269" "0" "90" "1" "94508322" "94508322" "subst" "1.62513E-5" "01695" "ABCA4_000128" "g.94508322C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94042766C>T" "" "pathogenic (recessive)" ""
"0000956270" "3" "90" "1" "94578596" "94578596" "subst" "4.06478E-6" "01695" "ABCA4_000250" "g.94578596C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94113040C>T" "" "pathogenic (recessive)" ""
"0000956271" "0" "70" "1" "94510164" "94510164" "subst" "1.62441E-5" "01695" "ABCA4_000144" "g.94510164C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94044608C>T" "" "likely pathogenic (recessive)" ""
"0000956272" "3" "70" "1" "94509018" "94509018" "subst" "8.12869E-6" "01695" "ABCA4_000659" "g.94509018C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94043462C>T" "" "likely pathogenic (recessive)" ""
"0000956273" "3" "90" "1" "94473278" "94473278" "del" "3.25908E-5" "01695" "ABCA4_000392" "g.94473278del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94007722del" "" "pathogenic (recessive)" ""
"0000956274" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000956275" "3" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000956276" "0" "90" "1" "94496548" "94496548" "subst" "2.43787E-5" "01695" "ABCA4_000088" "g.94496548G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94030992G>A" "" "pathogenic (recessive)" ""
"0000956277" "0" "50" "1" "94520735" "94520735" "subst" "0" "01695" "ABCA4_002808" "g.94520735A>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94055179A>T" "" "VUS" ""
"0000956278" "3" "90" "1" "94473844" "94473844" "del" "0" "01695" "ABCA4_002774" "g.94473844del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008288del" "" "pathogenic (recessive)" ""
"0000956279" "3" "90" "1" "94473278" "94473278" "del" "3.25908E-5" "01695" "ABCA4_000392" "g.94473278del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94007722del" "" "pathogenic (recessive)" ""
"0000956280" "3" "90" "1" "94473278" "94473278" "del" "3.25908E-5" "01695" "ABCA4_000392" "g.94473278del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94007722del" "" "pathogenic (recessive)" ""
"0000956281" "0" "90" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94063250A>G" "" "pathogenic (recessive)" ""
"0000956282" "0" "90" "1" "94485137" "94485137" "subst" "0" "01695" "ABCA4_000464" "g.94485137C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94019581C>T" "" "pathogenic (recessive)" ""
"0000956283" "0" "90" "1" "94485137" "94485137" "subst" "0" "01695" "ABCA4_000464" "g.94485137C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94019581C>T" "" "pathogenic (recessive)" ""
"0000956284" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000956285" "0" "70" "1" "94544249" "94544249" "subst" "8.12196E-6" "01695" "ABCA4_000323" "g.94544249A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94078693A>G" "" "likely pathogenic (recessive)" ""
"0000956286" "0" "90" "1" "94486896" "94486896" "subst" "3.65562E-5" "01695" "ABCA4_000085" "g.94486896G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94021340G>A" "" "pathogenic (recessive)" ""
"0000956287" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000956288" "3" "90" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94063250A>G" "" "pathogenic (recessive)" ""
"0000956289" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000956290" "0" "50" "1" "94544210" "94544210" "subst" "0" "01695" "ABCA4_002819" "g.94544210C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94078654C>T" "" "VUS" ""
"0000956291" "0" "90" "1" "94526230" "94526230" "subst" "7.32136E-5" "01695" "ABCA4_000760" "g.94526230C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94060674C>T" "" "pathogenic (recessive)" ""
"0000956292" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000956293" "3" "90" "1" "94508386" "94508386" "subst" "1.62443E-5" "01695" "ABCA4_000642" "g.94508386C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94042830C>T" "" "pathogenic (recessive)" ""
"0000956294" "0" "50" "1" "94487443" "94487443" "del" "0" "01695" "ABCA4_000503" "g.94487443del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94021887del" "" "VUS" ""
"0000956295" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000956296" "3" "90" "1" "94487251" "94487251" "subst" "2.85679E-5" "01695" "ABCA4_000490" "g.94487251G>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94021695G>T" "" "pathogenic (recessive)" ""
"0000956297" "0" "90" "1" "94492973" "94492973" "subst" "0" "01695" "ABCA4_000030" "g.94492973G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94027417G>A" "" "pathogenic (recessive)" ""
"0000956298" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000956299" "0" "90" "1" "94544185" "94544185" "subst" "8.12137E-6" "01695" "ABCA4_000177" "g.94544185C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94078629C>T" "" "pathogenic (recessive)" ""
"0000956300" "0" "90" "1" "94508356" "94508356" "subst" "0" "01695" "ABCA4_000635" "g.94508356T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94042800T>A" "" "pathogenic (recessive)" ""
"0000956301" "0" "90" "1" "94508356" "94508356" "subst" "0" "01695" "ABCA4_000635" "g.94508356T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94042800T>A" "" "pathogenic (recessive)" ""
"0000956302" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000956303" "3" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000956304" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000956305" "0" "90" "1" "94508435" "94508436" "dup" "0" "01695" "ABCA4_000998" "g.94508435_94508436dup" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94042879_94042880dup" "" "pathogenic (recessive)" ""
"0000956306" "0" "50" "1" "94522157" "94522157" "subst" "0" "01695" "ABCA4_002809" "g.94522157C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94056601C>T" "" "VUS" ""
"0000956307" "3" "90" "1" "94546283" "94546283" "subst" "8.18311E-5" "01695" "ABCA4_000356" "g.94546283A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94080727A>G" "" "pathogenic (recessive)" ""
"0000956308" "0" "50" "1" "94528153" "94528153" "subst" "0" "01695" "ABCA4_002810" "g.94528153G>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94062597G>T" "" "VUS" ""
"0000956309" "0" "90" "1" "94544895" "94544895" "subst" "1.62455E-5" "01695" "ABCA4_000329" "g.94544895G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94079339G>A" "" "pathogenic (recessive)" ""
"0000956310" "0" "90" "1" "94463488" "94463488" "subst" "5.2803E-5" "01695" "ABCA4_000802" "g.94463488G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.93997932G>A" "" "pathogenic (recessive)" ""
"0000956311" "0" "90" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94063250A>G" "" "pathogenic (recessive)" ""
"0000956312" "0" "90" "1" "94508386" "94508386" "subst" "1.62443E-5" "01695" "ABCA4_000642" "g.94508386C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94042830C>T" "" "pathogenic (recessive)" ""
"0000956313" "3" "90" "1" "94546283" "94546283" "subst" "8.18311E-5" "01695" "ABCA4_000356" "g.94546283A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94080727A>G" "" "pathogenic (recessive)" ""
"0000956314" "3" "90" "1" "94471056" "94471056" "subst" "2.84398E-5" "01695" "ABCA4_000050" "g.94471056G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94005500G>A" "" "pathogenic (recessive)" ""
"0000956315" "0" "90" "1" "94544185" "94544185" "subst" "8.12137E-6" "01695" "ABCA4_000177" "g.94544185C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94078629C>T" "" "pathogenic (recessive)" ""
"0000956316" "0" "50" "1" "94526211" "94526211" "subst" "2.43974E-5" "01695" "ABCA4_000758" "g.94526211C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94060655C>T" "" "VUS" ""
"0000956317" "3" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000956318" "0" "90" "1" "94502346" "94502346" "subst" "0" "01695" "ABCA4_002381" "g.94502346T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94036790T>A" "" "pathogenic (recessive)" ""
"0000956319" "0" "90" "1" "94492973" "94492973" "subst" "0" "01695" "ABCA4_000030" "g.94492973G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94027417G>A" "" "pathogenic (recessive)" ""
"0000956320" "0" "70" "1" "94586601" "94586601" "subst" "8.12156E-6" "01695" "ABCA4_000264" "g.94586601T>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94121045T>C" "" "likely pathogenic (recessive)" ""
"0000956321" "0" "90" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94063250A>G" "" "pathogenic (recessive)" ""
"0000956322" "0" "70" "1" "94512602" "94512602" "subst" "0.000369717" "01695" "ABCA4_000052" "g.94512602C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94047046C>T" "" "likely pathogenic (recessive)" ""
"0000956323" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000956324" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000956325" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000956326" "3" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000956327" "0" "90" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94010795C>T" "" "pathogenic (recessive)" ""
"0000956328" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000956329" "3" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000956330" "0" "90" "1" "94526296" "94526296" "subst" "1.64555E-5" "01695" "ABCA4_000768" "g.94526296G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94060740G>A" "" "pathogenic (recessive)" ""
"0000956331" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000956332" "0" "90" "1" "94528164" "94528164" "subst" "2.03336E-5" "01695" "ABCA4_000267" "g.94528164G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94062608G>A" "" "pathogenic (recessive)" ""
"0000956333" "0" "70" "1" "94509018" "94509018" "subst" "8.12869E-6" "01695" "ABCA4_000659" "g.94509018C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94043462C>T" "" "likely pathogenic (recessive)" ""
"0000956334" "3" "90" "1" "94463488" "94463488" "subst" "5.2803E-5" "01695" "ABCA4_000802" "g.94463488G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.93997932G>A" "" "pathogenic (recessive)" ""
"0000956335" "3" "90" "1" "94463488" "94463488" "subst" "5.2803E-5" "01695" "ABCA4_000802" "g.94463488G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.93997932G>A" "" "pathogenic (recessive)" ""
"0000956336" "0" "50" "1" "94512532" "94512532" "subst" "0" "01695" "ABCA4_000691" "g.94512532T>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94046976T>G" "" "VUS" ""
"0000956337" "0" "90" "1" "94526258" "94526258" "subst" "4.07183E-6" "01695" "ABCA4_000762" "g.94526258G>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94060702G>T" "" "pathogenic (recessive)" ""
"0000956338" "0" "50" "1" "94496509" "94496509" "subst" "0.00475243" "01695" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94030953C>T" "" "VUS" ""
"0000956339" "0" "90" "1" "94544895" "94544895" "subst" "1.62455E-5" "01695" "ABCA4_000329" "g.94544895G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94079339G>A" "" "pathogenic (recessive)" ""
"0000956340" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000956341" "0" "90" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94063250A>G" "" "pathogenic (recessive)" ""
"0000956342" "0" "70" "1" "94512580" "94512580" "subst" "2.8431E-5" "01695" "ABCA4_000695" "g.94512580A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94047024A>G" "" "likely pathogenic (recessive)" ""
"0000956343" "0" "90" "1" "94568645" "94568645" "del" "0" "01695" "ABCA4_002827" "g.94568645del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94103089del" "" "pathogenic (recessive)" ""
"0000956344" "0" "90" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94063250A>G" "" "pathogenic (recessive)" ""
"0000956345" "0" "50" "1" "94506937" "94506937" "subst" "0" "01695" "ABCA4_002801" "g.94506937G>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94041381G>T" "" "VUS" ""
"0000956346" "0" "70" "1" "94543281" "94543281" "subst" "4.0661E-6" "01695" "ABCA4_000309" "g.94543281C>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94077725C>A" "" "likely pathogenic (recessive)" ""
"0000956347" "0" "90" "1" "94528265" "94528265" "subst" "2.44212E-5" "01695" "ABCA4_000284" "g.94528265C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94062709C>T" "" "pathogenic (recessive)" ""
"0000956348" "0" "90" "1" "94577102" "94577102" "subst" "4.06161E-6" "01695" "ABCA4_000033" "g.94577102C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94111546C>T" "" "pathogenic (recessive)" ""
"0000956349" "0" "90" "1" "94508386" "94508386" "subst" "1.62443E-5" "01695" "ABCA4_000642" "g.94508386C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94042830C>T" "" "pathogenic (recessive)" ""
"0000956350" "0" "50" "1" "94466654" "94466654" "subst" "0" "01695" "ABCA4_002770" "g.94466654G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94001098G>A" "" "VUS" ""
"0000956351" "0" "90" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94010795C>T" "" "pathogenic (recessive)" ""
"0000956352" "0" "30" "1" "94496693" "94496693" "subst" "0.000163035" "01695" "ABCA4_001845" "g.94496693G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94031137G>A" "" "likely benign" ""
"0000956353" "0" "50" "1" "94528224" "94528224" "subst" "0" "01695" "ABCA4_002814" "g.94528224C>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94062668C>A" "" "VUS" ""
"0000956354" "3" "90" "1" "94495078" "94495078" "subst" "8.37044E-6" "01695" "ABCA4_000042" "g.94495078A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94029522A>G" "" "pathogenic (recessive)" ""
"0000956355" "0" "90" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94031110G>A" "" "pathogenic (recessive)" ""
"0000956356" "3" "50" "1" "94526161" "94526161" "subst" "0" "01695" "ABCA4_002055" "g.94526161A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94060605A>G" "" "VUS" ""
"0000956357" "0" "90" "1" "94526212" "94526212" "subst" "1.22012E-5" "01695" "ABCA4_000075" "g.94526212G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94060656G>A" "" "pathogenic (recessive)" ""
"0000956358" "0" "50" "1" "94485247" "94485247" "subst" "4.07647E-6" "01695" "ABCA4_002784" "g.94485247C>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94019691C>A" "" "VUS" ""
"0000956359" "0" "90" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94031110G>A" "" "pathogenic (recessive)" ""
"0000956360" "0" "90" "1" "94508435" "94508436" "dup" "0" "01695" "ABCA4_000998" "g.94508435_94508436dup" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94042879_94042880dup" "" "pathogenic (recessive)" ""
"0000956361" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000956362" "0" "90" "1" "94528164" "94528164" "subst" "2.03336E-5" "01695" "ABCA4_000267" "g.94528164G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94062608G>A" "" "pathogenic (recessive)" ""
"0000956363" "0" "90" "1" "94510248" "94510248" "subst" "0.000544123" "01695" "ABCA4_000107" "g.94510248C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94044692C>G" "" "pathogenic (recessive)" ""
"0000956364" "0" "90" "1" "94486896" "94486896" "subst" "3.65562E-5" "01695" "ABCA4_000085" "g.94486896G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94021340G>A" "" "pathogenic (recessive)" ""
"0000956365" "0" "90" "1" "94471055" "94471055" "subst" "0.00035346" "01695" "ABCA4_000029" "g.94471055C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94005499C>T" "" "pathogenic (recessive)" ""
"0000956366" "3" "70" "1" "94463399" "94463413" "del" "0" "01695" "ABCA4_000851" "g.94463399_94463413del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.93997843_93997857del" "" "likely pathogenic (recessive)" ""
"0000956367" "0" "50" "1" "94543278" "94543278" "subst" "0.000178952" "01695" "ABCA4_000004" "g.94543278G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94077722G>A" "" "VUS" ""
"0000956368" "0" "90" "1" "94508386" "94508386" "subst" "1.62443E-5" "01695" "ABCA4_000642" "g.94508386C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94042830C>T" "" "pathogenic (recessive)" ""
"0000956369" "0" "90" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94063250A>G" "" "pathogenic (recessive)" ""
"0000956370" "0" "70" "1" "94509018" "94509018" "subst" "8.12869E-6" "01695" "ABCA4_000659" "g.94509018C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94043462C>T" "" "likely pathogenic (recessive)" ""
"0000956371" "0" "90" "1" "94496571" "94496571" "subst" "4.06174E-6" "01695" "ABCA4_000111" "g.94496571G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94031015G>A" "" "pathogenic (recessive)" ""
"0000956372" "3" "90" "1" "94578596" "94578596" "subst" "4.06478E-6" "01695" "ABCA4_000250" "g.94578596C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94113040C>T" "" "pathogenic (recessive)" ""
"0000956373" "0" "70" "1" "94509018" "94509018" "subst" "8.12869E-6" "01695" "ABCA4_000659" "g.94509018C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94043462C>T" "" "likely pathogenic (recessive)" ""
"0000956374" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000956375" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000956376" "0" "90" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94063250A>G" "" "pathogenic (recessive)" ""
"0000956377" "0" "90" "1" "94495078" "94495078" "subst" "8.37044E-6" "01695" "ABCA4_000042" "g.94495078A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94029522A>G" "" "pathogenic (recessive)" ""
"0000956378" "0" "90" "1" "94528806" "94528806" "subst" "0.000150298" "01695" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94063250A>G" "" "pathogenic (recessive)" ""
"0000956379" "0" "90" "1" "94508386" "94508386" "subst" "1.62443E-5" "01695" "ABCA4_000642" "g.94508386C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94042830C>T" "" "pathogenic (recessive)" ""
"0000956380" "3" "90" "1" "94546283" "94546283" "subst" "8.18311E-5" "01695" "ABCA4_000356" "g.94546283A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94080727A>G" "" "pathogenic (recessive)" ""
"0000956381" "0" "90" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94031110G>A" "" "pathogenic (recessive)" ""
"0000956382" "3" "70" "1" "94463399" "94463413" "del" "0" "01695" "ABCA4_000851" "g.94463399_94463413del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.93997843_93997857del" "" "likely pathogenic (recessive)" ""
"0000956383" "3" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000956384" "0" "90" "1" "94528164" "94528164" "subst" "2.03336E-5" "01695" "ABCA4_000267" "g.94528164G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94062608G>A" "" "pathogenic (recessive)" ""
"0000956385" "0" "90" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94029515C>T" "" "pathogenic (recessive)" ""
"0000956386" "0" "50" "1" "94546058" "94546064" "del" "0" "01695" "ABCA4_002823" "g.94546058_94546064del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94080502_94080508del" "" "VUS" ""
"0000956387" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000956388" "3" "90" "1" "94528132" "94528132" "subst" "4.06835E-6" "01695" "ABCA4_000773" "g.94528132C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94062576C>T" "" "pathogenic (recessive)" ""
"0000956389" "3" "90" "1" "94528819" "94528819" "subst" "2.03128E-5" "01695" "ABCA4_000078" "g.94528819G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94063263G>A" "" "pathogenic (recessive)" ""
"0000956390" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000956391" "0" "90" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94031110G>A" "" "pathogenic (recessive)" ""
"0000956392" "0" "90" "1" "94467467" "94467467" "subst" "4.06164E-6" "01695" "ABCA4_000780" "g.94467467G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94001911G>A" "" "pathogenic (recessive)" ""
"0000956393" "0" "50" "1" "94549000" "94549000" "subst" "0.000517603" "01695" "ABCA4_001438" "g.94549000G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94083444G>A" "" "VUS" ""
"0000956394" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000956395" "0" "90" "1" "94568687" "94568687" "subst" "1.62641E-5" "01695" "ABCA4_000024" "g.94568687G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94103131G>A" "" "pathogenic (recessive)" ""
"0000956396" "0" "90" "1" "94528219" "94528220" "del" "0" "01695" "ABCA4_002813" "g.94528219_94528220del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94062663_94062664del" "" "pathogenic (recessive)" ""
"0000956397" "0" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic (recessive)" ""
"0000956398" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000956399" "0" "90" "1" "94486896" "94486896" "subst" "3.65562E-5" "01695" "ABCA4_000085" "g.94486896G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94021340G>A" "" "pathogenic (recessive)" ""
"0000956400" "0" "90" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94005509G>A" "" "pathogenic (recessive)" ""
"0000956401" "0" "90" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94010795C>T" "" "pathogenic (recessive)" ""
"0000956402" "0" "50" "1" "94467538" "94467538" "subst" "0" "01695" "ABCA4_002773" "g.94467538C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94001982C>T" "" "VUS" ""
"0000956403" "0" "90" "1" "94490567" "94490567" "subst" "5.68528E-5" "01695" "ABCA4_000026" "g.94490567G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94025011G>A" "" "pathogenic (recessive)" ""
"0000956404" "0" "90" "1" "94490567" "94490567" "subst" "5.68528E-5" "01695" "ABCA4_000026" "g.94490567G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94025011G>A" "" "pathogenic (recessive)" ""
"0000956405" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000956406" "0" "90" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94031110G>A" "" "pathogenic (recessive)" ""
"0000956407" "0" "90" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94031110G>A" "" "pathogenic (recessive)" ""
"0000956408" "0" "90" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94031110G>A" "" "pathogenic (recessive)" ""
"0000956409" "0" "90" "1" "94466422" "94466422" "subst" "2.43651E-5" "01695" "ABCA4_000817" "g.94466422C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94000866C>T" "" "pathogenic (recessive)" ""
"0000956410" "0" "90" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94029515C>T" "" "pathogenic (recessive)" ""
"0000956411" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000956412" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000956413" "0" "70" "1" "94490550" "94490550" "subst" "0" "01695" "ABCA4_000524" "g.94490550C>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94024994C>A" "" "likely pathogenic (recessive)" ""
"0000956414" "0" "90" "1" "94463488" "94463488" "subst" "5.2803E-5" "01695" "ABCA4_000802" "g.94463488G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.93997932G>A" "" "pathogenic (recessive)" ""
"0000956415" "0" "90" "1" "94467483" "94467483" "subst" "0" "01695" "ABCA4_001601" "g.94467483G>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94001927G>C" "" "pathogenic (recessive)" ""
"0000956416" "0" "90" "1" "94467483" "94467483" "subst" "0" "01695" "ABCA4_001601" "g.94467483G>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94001927G>C" "" "pathogenic (recessive)" ""
"0000956417" "0" "90" "1" "94467483" "94467483" "subst" "0" "01695" "ABCA4_001601" "g.94467483G>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94001927G>C" "" "pathogenic (recessive)" ""
"0000956418" "0" "90" "1" "94484001" "94484001" "subst" "0" "01695" "ABCA4_000016" "g.94484001C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94018445C>T" "" "pathogenic (recessive)" ""
"0000956419" "0" "90" "1" "94486895" "94486895" "subst" "3.24923E-5" "01695" "ABCA4_000484" "g.94486895C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94021339C>T" "" "pathogenic (recessive)" ""
"0000956420" "0" "50" "1" "94568675" "94568675" "subst" "0.00146249" "01695" "ABCA4_000210" "g.94568675T>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94103119T>C" "" "VUS" ""
"0000956421" "0" "70" "1" "94476886" "94476886" "subst" "4.06227E-6" "01695" "ABCA4_000433" "g.94476886A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94011330A>G" "" "likely pathogenic (recessive)" ""
"0000956422" "0" "50" "1" "94568675" "94568675" "subst" "0.00146249" "01695" "ABCA4_000210" "g.94568675T>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94103119T>C" "" "VUS" ""
"0000956423" "0" "70" "1" "94476886" "94476886" "subst" "4.06227E-6" "01695" "ABCA4_000433" "g.94476886A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94011330A>G" "" "likely pathogenic (recessive)" ""
"0000956424" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000956425" "0" "50" "1" "94467548" "94467548" "subst" "0.00295661" "01695" "ABCA4_000788" "g.94467548C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94001992C>G" "" "VUS" ""
"0000956426" "0" "90" "1" "94490567" "94490567" "subst" "5.68528E-5" "01695" "ABCA4_000026" "g.94490567G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94025011G>A" "" "pathogenic (recessive)" ""
"0000956427" "0" "90" "1" "94508386" "94508386" "subst" "1.62443E-5" "01695" "ABCA4_000642" "g.94508386C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94042830C>T" "" "pathogenic (recessive)" ""
"0000956428" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000956429" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000956430" "0" "90" "1" "94506901" "94506901" "subst" "4.06138E-6" "01695" "ABCA4_000622" "g.94506901C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94041345C>T" "" "pathogenic (recessive)" ""
"0000956431" "0" "50" "1" "94490510" "94490510" "subst" "0" "01695" "ABCA4_000518" "g.94490510C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94024954C>T" "" "VUS" ""
"0000956432" "0" "30" "1" "94512565" "94512565" "subst" "0.030364" "01695" "ABCA4_000002" "g.94512565C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94047009C>T" "" "likely benign" ""
"0000956433" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000956434" "0" "90" "1" "94471055" "94471055" "subst" "0.00035346" "01695" "ABCA4_000029" "g.94471055C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94005499C>T" "" "pathogenic (recessive)" ""
"0000956435" "0" "90" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94010795C>T" "" "pathogenic (recessive)" ""
"0000956436" "0" "90" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94010795C>T" "" "pathogenic (recessive)" ""
"0000956437" "0" "90" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94005509G>A" "" "pathogenic (recessive)" ""
"0000956438" "0" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic (recessive)" ""
"0000956439" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000956440" "0" "90" "1" "94471055" "94471055" "subst" "0.00035346" "01695" "ABCA4_000029" "g.94471055C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94005499C>T" "" "pathogenic (recessive)" ""
"0000956441" "0" "90" "1" "94526230" "94526230" "subst" "7.32136E-5" "01695" "ABCA4_000760" "g.94526230C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94060674C>T" "" "pathogenic (recessive)" ""
"0000956442" "0" "90" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94005509G>A" "" "pathogenic (recessive)" ""
"0000956443" "0" "70" "1" "94466602" "94466602" "subst" "1.62472E-5" "01695" "ABCA4_000035" "g.94466602C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94001046C>T" "" "likely pathogenic (recessive)" ""
"0000956444" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000956445" "0" "90" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94098928G>A" "" "pathogenic (recessive)" ""
"0000956446" "0" "90" "1" "94484001" "94484001" "subst" "0" "01695" "ABCA4_000016" "g.94484001C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94018445C>T" "" "pathogenic (recessive)" ""
"0000956447" "0" "90" "1" "94484001" "94484001" "subst" "0" "01695" "ABCA4_000016" "g.94484001C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94018445C>T" "" "pathogenic (recessive)" ""
"0000956448" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000956449" "0" "90" "1" "94466422" "94466422" "subst" "2.43651E-5" "01695" "ABCA4_000817" "g.94466422C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94000866C>T" "" "pathogenic (recessive)" ""
"0000956450" "0" "90" "1" "94466422" "94466422" "subst" "2.43651E-5" "01695" "ABCA4_000817" "g.94466422C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94000866C>T" "" "pathogenic (recessive)" ""
"0000956451" "0" "70" "1" "94476824" "94476824" "subst" "8.12889E-6" "01695" "ABCA4_000428" "g.94476824G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94011268G>A" "" "likely pathogenic (recessive)" ""
"0000956452" "0" "50" "1" "94522242" "94522242" "subst" "4.06636E-6" "01695" "ABCA4_000737" "g.94522242C>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94056686C>A" "" "VUS" ""
"0000956453" "0" "90" "1" "94480178" "94480178" "subst" "2.43692E-5" "01695" "ABCA4_000005" "g.94480178G>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94014622G>T" "" "pathogenic (recessive)" ""
"0000956454" "0" "90" "1" "94480178" "94480178" "subst" "2.43692E-5" "01695" "ABCA4_000005" "g.94480178G>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94014622G>T" "" "pathogenic (recessive)" ""
"0000956455" "0" "90" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94010795C>T" "" "pathogenic (recessive)" ""
"0000956456" "0" "90" "1" "94520690" "94520690" "subst" "2.03102E-5" "01695" "ABCA4_000149" "g.94520690C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94055134C>T" "" "pathogenic (recessive)" ""
"0000956457" "0" "90" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94031110G>A" "" "pathogenic (recessive)" ""
"0000956458" "0" "50" "1" "94476377" "94476377" "subst" "0.00160473" "01695" "ABCA4_000411" "g.94476377C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94010821C>T" "" "VUS" ""
"0000956459" "0" "90" "1" "94526184" "94526184" "subst" "0" "01695" "ABCA4_000755" "g.94526184C>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94060628C>A" "" "pathogenic (recessive)" ""
"0000956460" "0" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic (recessive)" ""
"0000956461" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000956462" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000956463" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000956464" "0" "90" "1" "94484001" "94484001" "subst" "0" "01695" "ABCA4_000016" "g.94484001C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94018445C>T" "" "pathogenic (recessive)" ""
"0000956465" "0" "90" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94031110G>A" "" "pathogenic (recessive)" ""
"0000956466" "0" "90" "1" "94564442" "94564454" "del" "0" "01695" "ABCA4_000377" "g.94564442_94564454del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94098886_94098898del" "" "pathogenic (recessive)" ""
"0000956467" "0" "90" "1" "94564442" "94564454" "del" "0" "01695" "ABCA4_000377" "g.94564442_94564454del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94098886_94098898del" "" "pathogenic (recessive)" ""
"0000956468" "0" "70" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94001068C>T" "" "likely pathogenic (recessive)" ""
"0000956469" "0" "90" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94005509G>A" "" "pathogenic (recessive)" ""
"0000956470" "0" "50" "1" "94467489" "94467489" "subst" "0" "01695" "ABCA4_001603" "g.94467489G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94001933G>A" "" "VUS" ""
"0000956471" "0" "50" "1" "94467489" "94467489" "subst" "0" "01695" "ABCA4_001603" "g.94467489G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94001933G>A" "" "VUS" ""
"0000956472" "0" "90" "1" "94471055" "94471055" "subst" "0.00035346" "01695" "ABCA4_000029" "g.94471055C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94005499C>T" "" "pathogenic (recessive)" ""
"0000956473" "0" "90" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94005509G>A" "" "pathogenic (recessive)" ""
"0000956474" "0" "50" "1" "94485283" "94485283" "subst" "1.64078E-5" "01695" "ABCA4_001734" "g.94485283A>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94019727A>T" "" "VUS" ""
"0000956475" "0" "90" "1" "94485220" "94485220" "subst" "0.000106324" "01695" "ABCA4_000121" "g.94485220C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94019664C>T" "" "pathogenic (recessive)" ""
"0000956476" "0" "70" "1" "94480182" "94480182" "subst" "0" "01695" "ABCA4_001452" "g.94480182C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94014626C>T" "" "likely pathogenic (recessive)" ""
"0000956477" "0" "50" "1" "94466416" "94466416" "subst" "0" "01695" "ABCA4_002767" "g.94466416C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94000860C>T" "" "VUS" ""
"0000956478" "0" "30" "1" "94512565" "94512565" "subst" "0.030364" "01695" "ABCA4_000002" "g.94512565C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94047009C>T" "" "likely benign" ""
"0000956479" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000956480" "0" "90" "1" "94496547" "94496547" "subst" "1.21904E-5" "01695" "ABCA4_000559" "g.94496547C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94030991C>T" "" "pathogenic (recessive)" ""
"0000956481" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000956482" "0" "90" "1" "94466628" "94466628" "subst" "0.000109748" "01695" "ABCA4_000094" "g.94466628G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94001072G>A" "" "pathogenic (recessive)" ""
"0000956483" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000956484" "0" "90" "1" "94471026" "94471026" "subst" "1.21925E-5" "01695" "ABCA4_000791" "g.94471026G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94005470G>A" "" "pathogenic (recessive)" ""
"0000956485" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000956486" "0" "50" "1" "94487490" "94487490" "subst" "0.00122268" "01695" "ABCA4_000506" "g.94487490A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94021934A>G" "" "VUS" ""
"0000956487" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000956488" "0" "90" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94005509G>A" "" "pathogenic (recessive)" ""
"0000956489" "0" "90" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94031110G>A" "" "pathogenic (recessive)" ""
"0000956490" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000956491" "0" "30" "1" "94512565" "94512565" "subst" "0.030364" "01695" "ABCA4_000002" "g.94512565C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94047009C>T" "" "likely benign" ""
"0000956492" "0" "90" "1" "94564463" "94564463" "subst" "0" "01695" "ABCA4_000381" "g.94564463T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94098907T>A" "" "pathogenic (recessive)" ""
"0000956493" "0" "90" "1" "94490567" "94490567" "subst" "5.68528E-5" "01695" "ABCA4_000026" "g.94490567G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94025011G>A" "" "pathogenic (recessive)" ""
"0000956494" "0" "90" "1" "94490567" "94490567" "subst" "5.68528E-5" "01695" "ABCA4_000026" "g.94490567G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94025011G>A" "" "pathogenic (recessive)" ""
"0000956495" "0" "30" "1" "94512565" "94512565" "subst" "0.030364" "01695" "ABCA4_000002" "g.94512565C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94047009C>T" "" "likely benign" ""
"0000956496" "0" "90" "1" "94471046" "94471046" "subst" "0" "01695" "ABCA4_000794" "g.94471046A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94005490A>G" "" "pathogenic (recessive)" ""
"0000956497" "0" "90" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94010795C>T" "" "pathogenic (recessive)" ""
"0000956498" "0" "90" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94098928G>A" "" "pathogenic (recessive)" ""
"0000956499" "0" "90" "1" "94508455" "94508455" "subst" "8.12434E-6" "01695" "ABCA4_000649" "g.94508455C>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94042899C>A" "" "pathogenic (recessive)" ""
"0000956500" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000956501" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000956502" "0" "90" "1" "94568687" "94568687" "subst" "1.62641E-5" "01695" "ABCA4_000024" "g.94568687G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94103131G>A" "" "pathogenic (recessive)" ""
"0000956503" "0" "50" "1" "94467548" "94467548" "subst" "0.00295661" "01695" "ABCA4_000788" "g.94467548C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94001992C>G" "" "VUS" ""
"0000956504" "0" "90" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94005509G>A" "" "pathogenic (recessive)" ""
"0000956505" "0" "90" "1" "94492973" "94492973" "subst" "0" "01695" "ABCA4_000030" "g.94492973G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94027417G>A" "" "pathogenic (recessive)" ""
"0000956506" "0" "90" "1" "94492973" "94492973" "subst" "0" "01695" "ABCA4_000030" "g.94492973G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94027417G>A" "" "pathogenic (recessive)" ""
"0000956507" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000956508" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000956509" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000956510" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000956511" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000956512" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000956513" "0" "90" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94010795C>T" "" "pathogenic (recessive)" ""
"0000956514" "0" "50" "1" "94466568" "94466568" "subst" "0" "01695" "ABCA4_002769" "g.94466568T>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94001012T>C" "" "VUS" ""
"0000956515" "0" "90" "1" "94522194" "94522194" "subst" "0" "01695" "ABCA4_000733" "g.94522194C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94056638C>T" "" "pathogenic (recessive)" ""
"0000956516" "0" "50" "1" "94564378" "94564378" "subst" "0" "01695" "ABCA4_000369" "g.94564378T>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94098822T>G" "" "VUS" ""
"0000956517" "0" "90" "1" "94466456" "94466456" "subst" "8.1217E-6" "01695" "ABCA4_000181" "g.94466456G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94000900G>A" "" "pathogenic (recessive)" ""
"0000956518" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000956519" "0" "90" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94005509G>A" "" "pathogenic (recessive)" ""
"0000956520" "0" "90" "1" "94522300" "94522300" "del" "0" "01695" "ABCA4_000744" "g.94522300del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94056744del" "" "pathogenic (recessive)" ""
"0000956521" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000956522" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000956523" "0" "90" "1" "94486791" "94486791" "subst" "0" "01695" "ABCA4_001253" "g.94486791C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94021235C>T" "" "pathogenic (recessive)" ""
"0000956524" "0" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic (recessive)" ""
"0000956525" "0" "90" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94010795C>T" "" "pathogenic (recessive)" ""
"0000956526" "0" "90" "1" "94485173" "94485174" "del" "0" "01695" "ABCA4_000468" "g.94485173_94485174del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94019617_94019618del" "" "pathogenic (recessive)" ""
"0000956527" "0" "90" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94010795C>T" "" "pathogenic (recessive)" ""
"0000956528" "0" "50" "1" "94508991" "94508991" "subst" "0" "01695" "ABCA4_002803" "g.94508991T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94043435T>A" "" "VUS" ""
"0000956529" "0" "90" "1" "94471026" "94471026" "subst" "1.21925E-5" "01695" "ABCA4_000791" "g.94471026G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94005470G>A" "" "pathogenic (recessive)" ""
"0000956530" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000956531" "0" "70" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94001068C>T" "" "likely pathogenic (recessive)" ""
"0000956532" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000956533" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000956534" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000956535" "0" "90" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94010795C>T" "" "pathogenic (recessive)" ""
"0000956536" "0" "70" "1" "94467487" "94467487" "subst" "0" "01695" "ABCA4_000783" "g.94467487G>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94001931G>C" "" "likely pathogenic (recessive)" ""
"0000956537" "0" "90" "1" "94564442" "94564454" "del" "0" "01695" "ABCA4_000377" "g.94564442_94564454del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94098886_94098898del" "" "pathogenic (recessive)" ""
"0000956538" "0" "50" "1" "94568686" "94568686" "subst" "0.00258122" "01695" "ABCA4_000212" "g.94568686C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94103130C>T" "" "VUS" ""
"0000956539" "0" "90" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94010795C>T" "" "pathogenic (recessive)" ""
"0000956540" "0" "70" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94001068C>T" "" "likely pathogenic (recessive)" ""
"0000956541" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000956542" "0" "90" "1" "94546248" "94546248" "del" "2.03666E-5" "01695" "ABCA4_000352" "g.94546248del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94080692del" "" "pathogenic (recessive)" ""
"0000956543" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000956544" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000956545" "0" "90" "1" "94495002" "94495002" "subst" "0" "01695" "ABCA4_000533" "g.94495002T>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94029446T>C" "" "pathogenic (recessive)" ""
"0000956546" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000956547" "0" "90" "1" "94473298" "94473299" "del" "0" "01695" "ABCA4_000397" "g.94473298_94473299del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94007742_94007743del" "" "pathogenic (recessive)" ""
"0000956548" "0" "70" "1" "94463437" "94463437" "subst" "0" "01695" "ABCA4_000796" "g.94463437T>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.93997881T>G" "" "likely pathogenic (recessive)" ""
"0000956549" "0" "50" "1" "94476377" "94476377" "subst" "0.00160473" "01695" "ABCA4_000411" "g.94476377C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94010821C>T" "" "VUS" ""
"0000956550" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000956551" "0" "90" "1" "94484001" "94484001" "subst" "0" "01695" "ABCA4_000016" "g.94484001C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94018445C>T" "" "pathogenic (recessive)" ""
"0000956552" "0" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic (recessive)" ""
"0000956553" "0" "50" "1" "94502756" "94502756" "subst" "0.000422575" "01695" "ABCA4_000032" "g.94502756G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94037200G>A" "" "VUS" ""
"0000956554" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000956555" "0" "90" "1" "94466422" "94466422" "subst" "2.43651E-5" "01695" "ABCA4_000817" "g.94466422C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94000866C>T" "" "pathogenic (recessive)" ""
"0000956556" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000956557" "0" "90" "1" "94473189" "94473189" "subst" "0" "01695" "ABCA4_000385" "g.94473189C>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94007633C>A" "" "pathogenic (recessive)" ""
"0000956558" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000956559" "0" "90" "1" "94471055" "94471055" "subst" "0.00035346" "01695" "ABCA4_000029" "g.94471055C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94005499C>T" "" "pathogenic (recessive)" ""
"0000956560" "0" "90" "1" "94471055" "94471055" "subst" "0.00035346" "01695" "ABCA4_000029" "g.94471055C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94005499C>T" "" "pathogenic (recessive)" ""
"0000956561" "0" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic (recessive)" ""
"0000956562" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000956563" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000956564" "0" "70" "1" "94485246" "94485246" "subst" "0" "01695" "ABCA4_000474" "g.94485246G>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94019690G>C" "" "likely pathogenic (recessive)" ""
"0000956565" "0" "70" "1" "94485246" "94485246" "subst" "0" "01695" "ABCA4_000474" "g.94485246G>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94019690G>C" "" "likely pathogenic (recessive)" ""
"0000956566" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000956567" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000956568" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000956569" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000956570" "0" "90" "1" "94497564" "94497564" "subst" "1.64383E-5" "01695" "ABCA4_000091" "g.94497564G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94032008G>A" "" "pathogenic (recessive)" ""
"0000956571" "0" "90" "1" "94463488" "94463488" "subst" "5.2803E-5" "01695" "ABCA4_000802" "g.94463488G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.93997932G>A" "" "pathogenic (recessive)" ""
"0000956572" "0" "90" "1" "94497392" "94497392" "subst" "0" "01695" "ABCA4_000577" "g.94497392G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94031836G>A" "" "pathogenic (recessive)" ""
"0000956573" "0" "90" "1" "94512478" "94512478" "subst" "3.65871E-5" "01695" "ABCA4_000678" "g.94512478G>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94046922G>T" "" "pathogenic (recessive)" ""
"0000956574" "0" "70" "1" "94508346" "94508346" "subst" "0" "01695" "ABCA4_000632" "g.94508346A>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94042790A>T" "" "likely pathogenic (recessive)" ""
"0000956575" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000956576" "0" "90" "1" "94508435" "94508436" "dup" "0" "01695" "ABCA4_000998" "g.94508435_94508436dup" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94042879_94042880dup" "" "pathogenic (recessive)" ""
"0000956577" "0" "90" "1" "94484001" "94484001" "subst" "0" "01695" "ABCA4_000016" "g.94484001C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94018445C>T" "" "pathogenic (recessive)" ""
"0000956578" "0" "50" "1" "94485157" "94485157" "subst" "0" "01695" "ABCA4_000466" "g.94485157G>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94019601G>T" "" "VUS" ""
"0000956579" "0" "30" "1" "94512565" "94512565" "subst" "0.030364" "01695" "ABCA4_000002" "g.94512565C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94047009C>T" "" "likely benign" ""
"0000956580" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000956581" "0" "30" "1" "94512565" "94512565" "subst" "0.030364" "01695" "ABCA4_000002" "g.94512565C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94047009C>T" "" "likely benign" ""
"0000956582" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000956583" "0" "90" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94031110G>A" "" "pathogenic (recessive)" ""
"0000956584" "0" "90" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94010795C>T" "" "pathogenic (recessive)" ""
"0000956585" "0" "90" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94031110G>A" "" "pathogenic (recessive)" ""
"0000956586" "0" "90" "1" "94490544" "94490544" "del" "0" "01695" "ABCA4_002788" "g.94490544del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94024988del" "" "pathogenic (recessive)" ""
"0000956587" "0" "90" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94005509G>A" "" "pathogenic (recessive)" ""
"0000956588" "0" "50" "1" "94476875" "94476875" "subst" "0" "01695" "ABCA4_002776" "g.94476875G>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94011319G>C" "" "VUS" ""
"0000956589" "0" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic (recessive)" ""
"0000956590" "0" "90" "1" "94471055" "94471055" "subst" "0.00035346" "01695" "ABCA4_000029" "g.94471055C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94005499C>T" "" "pathogenic (recessive)" ""
"0000956591" "0" "90" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94031110G>A" "" "pathogenic (recessive)" ""
"0000956592" "0" "90" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94031110G>A" "" "pathogenic (recessive)" ""
"0000956593" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000956594" "0" "90" "1" "94486896" "94486896" "subst" "3.65562E-5" "01695" "ABCA4_000085" "g.94486896G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94021340G>A" "" "pathogenic (recessive)" ""
"0000956595" "0" "90" "1" "94471055" "94471055" "subst" "0.00035346" "01695" "ABCA4_000029" "g.94471055C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94005499C>T" "" "pathogenic (recessive)" ""
"0000956596" "0" "90" "1" "94486896" "94486896" "subst" "3.65562E-5" "01695" "ABCA4_000085" "g.94486896G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94021340G>A" "" "pathogenic (recessive)" ""
"0000956597" "0" "90" "1" "94471055" "94471055" "subst" "0.00035346" "01695" "ABCA4_000029" "g.94471055C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94005499C>T" "" "pathogenic (recessive)" ""
"0000956598" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000956599" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000956600" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000956601" "0" "90" "1" "94466422" "94466422" "subst" "2.43651E-5" "01695" "ABCA4_000817" "g.94466422C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94000866C>T" "" "pathogenic (recessive)" ""
"0000956602" "0" "90" "1" "94466615" "94466615" "subst" "0" "01695" "ABCA4_000836" "g.94466615C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94001059C>T" "" "pathogenic (recessive)" ""
"0000956603" "0" "50" "1" "94480163" "94480163" "subst" "0" "01695" "ABCA4_002778" "g.94480163T>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94014607T>C" "" "VUS" ""
"0000956604" "0" "90" "1" "94495078" "94495078" "subst" "8.37044E-6" "01695" "ABCA4_000042" "g.94495078A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94029522A>G" "" "pathogenic (recessive)" ""
"0000956605" "0" "90" "1" "94495078" "94495078" "subst" "8.37044E-6" "01695" "ABCA4_000042" "g.94495078A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94029522A>G" "" "pathogenic (recessive)" ""
"0000956606" "0" "90" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94005509G>A" "" "pathogenic (recessive)" ""
"0000956607" "0" "90" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94029515C>T" "" "pathogenic (recessive)" ""
"0000956608" "0" "50" "1" "94564462" "94564462" "subst" "4.06775E-5" "01695" "ABCA4_000380" "g.94564462C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94098906C>G" "" "VUS" ""
"0000956609" "0" "90" "1" "94466422" "94466422" "subst" "2.43651E-5" "01695" "ABCA4_000817" "g.94466422C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94000866C>T" "" "pathogenic (recessive)" ""
"0000956610" "0" "90" "1" "94481322" "94481330" "del" "0" "01695" "ABCA4_000453" "g.94481322_94481330del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94015766_94015774del" "" "pathogenic (recessive)" ""
"0000956611" "0" "90" "1" "94495009" "94495009" "dup" "0" "01695" "ABCA4_000087" "g.94495009dup" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94029453dup" "" "pathogenic (recessive)" ""
"0000956612" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000956613" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000956614" "0" "50" "1" "94467548" "94467548" "subst" "0.00295661" "01695" "ABCA4_000788" "g.94467548C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94001992C>G" "" "VUS" ""
"0000956615" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000956616" "0" "90" "1" "94546283" "94546283" "subst" "8.18311E-5" "01695" "ABCA4_000356" "g.94546283A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94080727A>G" "" "pathogenic (recessive)" ""
"0000956617" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000956618" "0" "50" "1" "94473287" "94473287" "subst" "0.00293818" "01695" "ABCA4_000395" "g.94473287G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94007731G>A" "" "VUS" ""
"0000956619" "0" "90" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94031110G>A" "" "pathogenic (recessive)" ""
"0000956620" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000956621" "0" "90" "1" "94578618" "94578618" "subst" "0.000166918" "01695" "ABCA4_000252" "g.94578618C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94113062C>T" "" "pathogenic (recessive)" ""
"0000956622" "0" "90" "1" "94486794" "94486794" "subst" "0" "01695" "ABCA4_000478" "g.94486794A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94021238A>G" "" "pathogenic (recessive)" ""
"0000956623" "0" "90" "1" "94466559" "94466559" "subst" "0" "01695" "ABCA4_000833" "g.94466559T>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94001003T>C" "" "pathogenic (recessive)" ""
"0000956624" "0" "90" "1" "94471055" "94471055" "subst" "0.00035346" "01695" "ABCA4_000029" "g.94471055C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94005499C>T" "" "pathogenic (recessive)" ""
"0000956625" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000956626" "0" "90" "1" "94473298" "94473299" "del" "0" "01695" "ABCA4_000397" "g.94473298_94473299del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94007742_94007743del" "" "pathogenic (recessive)" ""
"0000956627" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000956628" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000956629" "0" "90" "1" "94508435" "94508436" "dup" "0" "01695" "ABCA4_000998" "g.94508435_94508436dup" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94042879_94042880dup" "" "pathogenic (recessive)" ""
"0000956630" "0" "90" "1" "94520686" "94520686" "subst" "0" "01695" "ABCA4_000710" "g.94520686G>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94055130G>T" "" "pathogenic (recessive)" ""
"0000956631" "0" "90" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94029515C>T" "" "pathogenic (recessive)" ""
"0000956632" "0" "70" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94001068C>T" "" "likely pathogenic (recessive)" ""
"0000956633" "0" "90" "1" "94486896" "94486896" "subst" "3.65562E-5" "01695" "ABCA4_000085" "g.94486896G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "both variants are likely on same allele" "Germline/De novo (untested)" "" "" "0" "" "" "g.94021340G>A" "" "pathogenic (recessive)" ""
"0000956634" "0" "90" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94029515C>T" "" "pathogenic (recessive)" ""
"0000956635" "0" "90" "1" "94471055" "94471055" "subst" "0.00035346" "01695" "ABCA4_000029" "g.94471055C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94005499C>T" "" "pathogenic (recessive)" ""
"0000956636" "0" "70" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94001068C>T" "" "likely pathogenic (recessive)" ""
"0000956637" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000956638" "0" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic (recessive)" ""
"0000956639" "0" "90" "1" "94473278" "94473278" "del" "3.25908E-5" "01695" "ABCA4_000392" "g.94473278del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94007722del" "" "pathogenic (recessive)" ""
"0000956640" "0" "90" "1" "94463434" "94463434" "subst" "0" "01695" "ABCA4_000856" "g.94463434G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.93997878G>A" "" "pathogenic (recessive)" ""
"0000956641" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000956642" "0" "90" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94005509G>A" "" "pathogenic (recessive)" ""
"0000956643" "0" "90" "1" "94578596" "94578596" "subst" "4.06478E-6" "01695" "ABCA4_000250" "g.94578596C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94113040C>T" "" "pathogenic (recessive)" ""
"0000956644" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000956645" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000956646" "0" "90" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94029515C>T" "" "pathogenic (recessive)" ""
"0000956647" "0" "50" "1" "94467548" "94467548" "subst" "0.00295661" "01695" "ABCA4_000788" "g.94467548C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94001992C>G" "" "VUS" ""
"0000956648" "0" "90" "1" "94496583" "94496583" "subst" "2.03092E-5" "01695" "ABCA4_000190" "g.94496583A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94031027A>G" "" "pathogenic (recessive)" ""
"0000956649" "0" "90" "1" "94486896" "94486896" "subst" "3.65562E-5" "01695" "ABCA4_000085" "g.94486896G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94021340G>A" "" "pathogenic (recessive)" ""
"0000956650" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000956651" "0" "90" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94005509G>A" "" "pathogenic (recessive)" ""
"0000956652" "0" "90" "1" "94510253" "94510253" "subst" "0.000247694" "01695" "ABCA4_000108" "g.94510253A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94044697A>G" "" "pathogenic (recessive)" ""
"0000956653" "0" "50" "1" "94502906" "94502906" "subst" "0.000314086" "01695" "ABCA4_000605" "g.94502906C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94037350C>T" "" "VUS" ""
"0000956654" "0" "50" "1" "94476939" "94476939" "subst" "2.03371E-5" "01695" "ABCA4_001398" "g.94476939C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94011383C>T" "" "VUS" ""
"0000956655" "0" "90" "1" "94466422" "94466422" "subst" "2.43651E-5" "01695" "ABCA4_000817" "g.94466422C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94000866C>T" "" "pathogenic (recessive)" ""
"0000956656" "0" "90" "1" "94486896" "94486896" "subst" "3.65562E-5" "01695" "ABCA4_000085" "g.94486896G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94021340G>A" "" "pathogenic (recessive)" ""
"0000956657" "0" "50" "1" "94486857" "94486857" "subst" "0" "01695" "ABCA4_002564" "g.94486857C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94021301C>T" "" "VUS" ""
"0000956658" "0" "90" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94010795C>T" "" "pathogenic (recessive)" ""
"0000956659" "0" "90" "1" "94490567" "94490567" "subst" "5.68528E-5" "01695" "ABCA4_000026" "g.94490567G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94025011G>A" "" "pathogenic (recessive)" ""
"0000956660" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000956661" "0" "90" "1" "94496008" "94496008" "subst" "2.03056E-5" "01695" "ABCA4_000148" "g.94496008C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94030452C>T" "" "pathogenic (recessive)" ""
"0000956662" "0" "90" "1" "94496008" "94496008" "subst" "2.03056E-5" "01695" "ABCA4_000148" "g.94496008C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94030452C>T" "" "pathogenic (recessive)" ""
"0000956663" "0" "90" "1" "94496583" "94496583" "subst" "2.03092E-5" "01695" "ABCA4_000190" "g.94496583A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94031027A>G" "" "pathogenic (recessive)" ""
"0000956664" "0" "90" "1" "94486896" "94486896" "subst" "3.65562E-5" "01695" "ABCA4_000085" "g.94486896G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94021340G>A" "" "pathogenic (recessive)" ""
"0000956665" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000956666" "0" "90" "1" "94471055" "94471055" "subst" "0.00035346" "01695" "ABCA4_000029" "g.94471055C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94005499C>T" "" "pathogenic (recessive)" ""
"0000956667" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000956668" "0" "50" "1" "94487404" "94487404" "subst" "0.00244055" "01695" "ABCA4_000497" "g.94487404C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94021848C>T" "" "VUS" ""
"0000956669" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000956670" "0" "90" "1" "94480244" "94480244" "subst" "4.06128E-6" "01695" "ABCA4_001399" "g.94480244C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94014688C>T" "" "pathogenic (recessive)" ""
"0000956671" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000956672" "0" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic (recessive)" ""
"0000956673" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000956674" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000956675" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000956676" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000956677" "0" "70" "1" "94463399" "94463413" "del" "0" "01695" "ABCA4_000851" "g.94463399_94463413del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.93997843_93997857del" "" "likely pathogenic (recessive)" ""
"0000956678" "0" "90" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94005509G>A" "" "pathogenic (recessive)" ""
"0000956679" "0" "90" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94098928G>A" "" "pathogenic (recessive)" ""
"0000956680" "0" "90" "1" "94484001" "94484001" "subst" "0" "01695" "ABCA4_000016" "g.94484001C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94018445C>T" "" "pathogenic (recessive)" ""
"0000956681" "0" "90" "1" "94508436" "94508437" "ins" "0" "01695" "ABCA4_000645" "g.94508436_94508437insAC" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94042880_94042881insAC" "" "pathogenic (recessive)" ""
"0000956682" "0" "30" "1" "94463617" "94463617" "subst" "0.0109114" "01695" "ABCA4_000013" "g.94463617C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.93998061C>T" "" "likely benign" ""
"0000956683" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000956684" "0" "70" "1" "94564460" "94564460" "subst" "8.1355E-6" "01695" "ABCA4_000056" "g.94564460G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94098904G>A" "" "likely pathogenic (recessive)" ""
"0000956685" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000956686" "0" "90" "1" "94486896" "94486896" "subst" "3.65562E-5" "01695" "ABCA4_000085" "g.94486896G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94021340G>A" "" "pathogenic (recessive)" ""
"0000956687" "0" "70" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94001068C>T" "" "likely pathogenic (recessive)" ""
"0000956688" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000956689" "0" "90" "1" "94512499" "94512499" "subst" "0.000130029" "01695" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94046943T>C" "" "pathogenic (recessive)" ""
"0000956690" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000956691" "0" "50" "1" "94544145" "94544145" "subst" "0" "01695" "ABCA4_002127" "g.94544145C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94078589C>T" "" "VUS" ""
"0000956692" "0" "90" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94010795C>T" "" "pathogenic (recessive)" ""
"0000956693" "0" "90" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94098928G>A" "" "pathogenic (recessive)" ""
"0000956694" "0" "90" "1" "94506923" "94506923" "subst" "2.43657E-5" "01695" "ABCA4_000012" "g.94506923C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94041367C>T" "" "pathogenic (recessive)" ""
"0000956695" "0" "90" "1" "94471056" "94471056" "subst" "2.84398E-5" "01695" "ABCA4_000050" "g.94471056G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94005500G>A" "" "pathogenic (recessive)" ""
"0000956696" "0" "90" "1" "94485220" "94485220" "subst" "0.000106324" "01695" "ABCA4_000121" "g.94485220C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94019664C>T" "" "pathogenic (recessive)" ""
"0000956697" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000956698" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000956699" "0" "50" "1" "94463623" "94463623" "subst" "0" "01695" "ABCA4_002766" "g.94463623T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.93998067T>A" "" "VUS" ""
"0000956700" "0" "70" "1" "94496589" "94496589" "subst" "0" "01695" "ABCA4_000568" "g.94496589G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94031033G>A" "" "likely pathogenic (recessive)" ""
"0000956701" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000956702" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000956703" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000956704" "0" "90" "1" "94564463" "94564463" "subst" "0" "01695" "ABCA4_000381" "g.94564463T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94098907T>A" "" "pathogenic (recessive)" ""
"0000956705" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000956706" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000956707" "0" "90" "1" "94506923" "94506923" "subst" "2.43657E-5" "01695" "ABCA4_000012" "g.94506923C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94041367C>T" "" "pathogenic (recessive)" ""
"0000956708" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000956709" "0" "50" "1" "94467469" "94467469" "subst" "0" "01695" "ABCA4_002772" "g.94467469T>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94001913T>G" "" "VUS" ""
"0000956710" "0" "70" "1" "94466658" "94466658" "subst" "8.14817E-6" "01695" "ABCA4_000132" "g.94466658C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94001102C>T" "" "likely pathogenic (recessive)" ""
"0000956711" "0" "70" "1" "94508412" "94508412" "subst" "0" "01695" "ABCA4_000644" "g.94508412C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94042856C>T" "" "likely pathogenic (recessive)" ""
"0000956712" "0" "70" "1" "94466658" "94466658" "subst" "8.14817E-6" "01695" "ABCA4_000132" "g.94466658C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94001102C>T" "" "likely pathogenic (recessive)" ""
"0000956713" "0" "90" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94010795C>T" "" "pathogenic (recessive)" ""
"0000956714" "0" "90" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94010795C>T" "" "pathogenic (recessive)" ""
"0000956715" "0" "90" "1" "94471046" "94471046" "subst" "0" "01695" "ABCA4_000793" "g.94471046A>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94005490A>C" "" "pathogenic (recessive)" ""
"0000956716" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000956717" "0" "90" "1" "94490550" "94490550" "subst" "0.000105588" "01695" "ABCA4_000523" "g.94490550C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94024994C>T" "" "pathogenic (recessive)" ""
"0000956718" "0" "90" "1" "94495177" "94495177" "subst" "1.22342E-5" "01695" "ABCA4_000023" "g.94495177A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94029621A>G" "" "pathogenic (recessive)" ""
"0000956719" "0" "50" "1" "94487402" "94487402" "subst" "0" "01695" "ABCA4_002643" "g.94487402C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94021846C>T" "" "VUS" ""
"0000956720" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000956721" "0" "90" "1" "94466422" "94466422" "subst" "2.43651E-5" "01695" "ABCA4_000817" "g.94466422C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94000866C>T" "" "pathogenic (recessive)" ""
"0000956722" "0" "90" "1" "94466422" "94466422" "subst" "2.43651E-5" "01695" "ABCA4_000817" "g.94466422C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94000866C>T" "" "pathogenic (recessive)" ""
"0000956723" "0" "90" "1" "94466422" "94466422" "subst" "2.43651E-5" "01695" "ABCA4_000817" "g.94466422C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94000866C>T" "" "pathogenic (recessive)" ""
"0000956724" "0" "70" "1" "94481322" "94481330" "del" "0" "01695" "ABCA4_000453" "g.94481322_94481330del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94015766_94015774del" "" "likely pathogenic (recessive)" ""
"0000956725" "0" "70" "1" "94485279" "94485293" "del" "0" "01695" "ABCA4_000476" "g.94485279_94485293del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94019723_94019737del" "" "likely pathogenic (recessive)" ""
"0000956726" "0" "90" "1" "94490567" "94490567" "subst" "5.68528E-5" "01695" "ABCA4_000026" "g.94490567G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94025011G>A" "" "pathogenic (recessive)" ""
"0000956727" "0" "90" "1" "94495009" "94495009" "dup" "0" "01695" "ABCA4_000087" "g.94495009dup" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94029453dup" "" "pathogenic (recessive)" ""
"0000956728" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000956729" "0" "50" "1" "94476377" "94476377" "subst" "0.00160473" "01695" "ABCA4_000411" "g.94476377C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94010821C>T" "" "VUS" ""
"0000956730" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000956731" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000956732" "0" "50" "1" "94502318" "94502323" "del" "0" "01695" "ABCA4_000591" "g.94502318_94502323del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94036762_94036767del" "" "VUS" ""
"0000956733" "0" "50" "1" "94476842" "94476842" "subst" "2.43764E-5" "01695" "ABCA4_001682" "g.94476842C>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94011286C>A" "" "VUS" ""
"0000956734" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000956735" "0" "90" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94029515C>T" "" "pathogenic (recessive)" ""
"0000956736" "0" "90" "1" "94471056" "94471056" "subst" "2.84398E-5" "01695" "ABCA4_000050" "g.94471056G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94005500G>A" "" "pathogenic (recessive)" ""
"0000956737" "0" "90" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94010795C>T" "" "pathogenic (recessive)" ""
"0000956738" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000956739" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000956740" "0" "90" "1" "94490550" "94490550" "subst" "0.000105588" "01695" "ABCA4_000523" "g.94490550C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94024994C>T" "" "pathogenic (recessive)" ""
"0000956741" "0" "50" "1" "94476377" "94476377" "subst" "0.00160473" "01695" "ABCA4_000411" "g.94476377C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94010821C>T" "" "VUS" ""
"0000956742" "0" "90" "1" "94474381" "94474381" "subst" "1.21849E-5" "01695" "ABCA4_000410" "g.94474381C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008825C>T" "" "pathogenic (recessive)" ""
"0000956743" "0" "70" "1" "94481322" "94481330" "del" "0" "01695" "ABCA4_000453" "g.94481322_94481330del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94015766_94015774del" "" "likely pathogenic (recessive)" ""
"0000956744" "0" "70" "1" "94481322" "94481330" "del" "0" "01695" "ABCA4_000453" "g.94481322_94481330del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94015766_94015774del" "" "likely pathogenic (recessive)" ""
"0000956745" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000956746" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000956747" "0" "50" "1" "94502756" "94502756" "subst" "0.000422575" "01695" "ABCA4_000032" "g.94502756G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94037200G>A" "" "VUS" ""
"0000956748" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000956749" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000956750" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000956751" "0" "90" "1" "94471055" "94471055" "subst" "0.00035346" "01695" "ABCA4_000029" "g.94471055C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94005499C>T" "" "pathogenic (recessive)" ""
"0000956752" "0" "90" "1" "94564406" "94564406" "subst" "0" "01695" "ABCA4_001413" "g.94564406G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94098850G>A" "" "pathogenic (recessive)" ""
"0000956753" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000956754" "0" "90" "1" "94578596" "94578596" "subst" "4.06478E-6" "01695" "ABCA4_000250" "g.94578596C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94113040C>T" "" "pathogenic (recessive)" ""
"0000956755" "0" "90" "1" "94578596" "94578596" "subst" "4.06478E-6" "01695" "ABCA4_000250" "g.94578596C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94113040C>T" "" "pathogenic (recessive)" ""
"0000956756" "0" "90" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94029515C>T" "" "pathogenic (recessive)" ""
"0000956757" "0" "50" "1" "94487490" "94487490" "subst" "0.00122268" "01695" "ABCA4_000506" "g.94487490A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94021934A>G" "" "VUS" ""
"0000956758" "0" "90" "1" "94484001" "94484001" "subst" "0" "01695" "ABCA4_000016" "g.94484001C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94018445C>T" "" "pathogenic (recessive)" ""
"0000956759" "0" "90" "1" "94490550" "94490550" "subst" "0.000105588" "01695" "ABCA4_000523" "g.94490550C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94024994C>T" "" "pathogenic (recessive)" ""
"0000956760" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000956761" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000956762" "0" "50" "1" "94483921" "94483921" "subst" "0" "01695" "ABCA4_002782" "g.94483921G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94018365G>A" "" "VUS" ""
"0000956763" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000956764" "0" "90" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94029515C>T" "" "pathogenic (recessive)" ""
"0000956765" "0" "90" "1" "94564383" "94564383" "subst" "0" "01695" "ABCA4_000371" "g.94564383A>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94098827A>C" "" "pathogenic (recessive)" ""
"0000956766" "0" "90" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94031110G>A" "" "pathogenic (recessive)" ""
"0000956767" "0" "90" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94031110G>A" "" "pathogenic (recessive)" ""
"0000956768" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000956769" "0" "90" "1" "94495021" "94495021" "subst" "0.000161713" "01695" "ABCA4_000538" "g.94495021C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94029465C>T" "" "pathogenic (recessive)" ""
"0000956770" "0" "90" "1" "94487454" "94487454" "del" "0" "01695" "ABCA4_002786" "g.94487454del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94021898del" "" "pathogenic (recessive)" ""
"0000956771" "0" "90" "1" "94578618" "94578618" "subst" "0.000166918" "01695" "ABCA4_000252" "g.94578618C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94113062C>T" "" "pathogenic (recessive)" ""
"0000956772" "0" "90" "1" "94463488" "94463488" "subst" "5.2803E-5" "01695" "ABCA4_000802" "g.94463488G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.93997932G>A" "" "pathogenic (recessive)" ""
"0000956773" "0" "90" "1" "94471055" "94471055" "subst" "0.00035346" "01695" "ABCA4_000029" "g.94471055C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94005499C>T" "" "pathogenic (recessive)" ""
"0000956774" "0" "90" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94005509G>A" "" "pathogenic (recessive)" ""
"0000956775" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000956776" "0" "70" "1" "94480241" "94480241" "subst" "0" "01695" "ABCA4_000447" "g.94480241G>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94014685G>T" "" "likely pathogenic (recessive)" ""
"0000956777" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000956778" "0" "90" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94010795C>T" "" "pathogenic (recessive)" ""
"0000956779" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000956780" "0" "90" "1" "94548932" "94548932" "del" "4.06587E-6" "01695" "ABCA4_001022" "g.94548932del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94083376del" "" "pathogenic (recessive)" ""
"0000956781" "0" "90" "1" "94548932" "94548932" "del" "4.06587E-6" "01695" "ABCA4_001022" "g.94548932del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94083376del" "" "pathogenic (recessive)" ""
"0000956782" "0" "70" "1" "94466658" "94466658" "subst" "8.14817E-6" "01695" "ABCA4_000132" "g.94466658C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94001102C>T" "" "likely pathogenic (recessive)" ""
"0000956783" "0" "90" "1" "94564548" "94564548" "subst" "0" "01695" "ABCA4_000197" "g.94564548C>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94098992C>A" "" "pathogenic (recessive)" ""
"0000956784" "0" "70" "1" "94476824" "94476824" "subst" "8.12889E-6" "01695" "ABCA4_000428" "g.94476824G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94011268G>A" "" "likely pathogenic (recessive)" ""
"0000956785" "0" "70" "1" "94476824" "94476824" "subst" "8.12889E-6" "01695" "ABCA4_000428" "g.94476824G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94011268G>A" "" "likely pathogenic (recessive)" ""
"0000956786" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000956787" "0" "70" "1" "94485221" "94485221" "subst" "0" "01695" "ABCA4_000471" "g.94485221G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94019665G>A" "" "likely pathogenic (recessive)" ""
"0000956788" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000956789" "0" "90" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94005509G>A" "" "pathogenic (recessive)" ""
"0000956790" "0" "90" "1" "94485173" "94485174" "del" "0" "01695" "ABCA4_000468" "g.94485173_94485174del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94019617_94019618del" "" "pathogenic (recessive)" ""
"0000956791" "0" "90" "1" "94485173" "94485174" "del" "0" "01695" "ABCA4_000468" "g.94485173_94485174del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94019617_94019618del" "" "pathogenic (recessive)" ""
"0000956792" "0" "90" "1" "94510253" "94510253" "subst" "0.000247694" "01695" "ABCA4_000108" "g.94510253A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94044697A>G" "" "pathogenic (recessive)" ""
"0000956793" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000956794" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000956795" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000956796" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000956797" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000956798" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000956799" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000956800" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000956801" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000956802" "0" "90" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94010795C>T" "" "pathogenic (recessive)" ""
"0000956803" "0" "70" "1" "94463399" "94463413" "del" "0" "01695" "ABCA4_000851" "g.94463399_94463413del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.93997843_93997857del" "" "likely pathogenic (recessive)" ""
"0000956804" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000956805" "0" "90" "1" "94508435" "94508436" "dup" "0" "01695" "ABCA4_000998" "g.94508435_94508436dup" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94042879_94042880dup" "" "pathogenic (recessive)" ""
"0000956806" "0" "90" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94029515C>T" "" "pathogenic (recessive)" ""
"0000956807" "0" "90" "1" "94577010" "94577010" "subst" "1.22004E-5" "01695" "ABCA4_000224" "g.94577010T>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94111454T>C" "" "pathogenic (recessive)" ""
"0000956808" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000956809" "0" "90" "1" "94546283" "94546283" "subst" "8.18311E-5" "01695" "ABCA4_000356" "g.94546283A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94080727A>G" "" "pathogenic (recessive)" ""
"0000956810" "0" "70" "1" "94458800" "94458800" "subst" "0" "01695" "ABCA4_001557" "g.94458800T>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.93993244T>G" "" "likely pathogenic (recessive)" ""
"0000956811" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000956812" "0" "90" "1" "94484001" "94484001" "subst" "0" "01695" "ABCA4_000016" "g.94484001C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94018445C>T" "" "pathogenic (recessive)" ""
"0000956813" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000956814" "0" "70" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94001068C>T" "" "likely pathogenic (recessive)" ""
"0000956815" "0" "70" "1" "94546207" "94546207" "subst" "0.000101665" "01695" "ABCA4_000083" "g.94546207G>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94080651G>C" "" "likely pathogenic (recessive)" ""
"0000956816" "0" "70" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94001068C>T" "" "likely pathogenic (recessive)" ""
"0000956817" "0" "70" "1" "94546207" "94546207" "subst" "0.000101665" "01695" "ABCA4_000083" "g.94546207G>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94080651G>C" "" "likely pathogenic (recessive)" ""
"0000956818" "0" "90" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94005509G>A" "" "pathogenic (recessive)" ""
"0000956819" "0" "90" "1" "94578596" "94578596" "subst" "4.06478E-6" "01695" "ABCA4_000250" "g.94578596C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94113040C>T" "" "pathogenic (recessive)" ""
"0000956820" "0" "90" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94029515C>T" "" "pathogenic (recessive)" ""
"0000956821" "0" "90" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94031110G>A" "" "pathogenic (recessive)" ""
"0000956822" "0" "50" "1" "94485278" "94485278" "subst" "0.000487317" "01695" "ABCA4_000101" "g.94485278C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94019722C>T" "" "VUS" ""
"0000956823" "0" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic (recessive)" ""
"0000956824" "0" "90" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94010795C>T" "" "pathogenic (recessive)" ""
"0000956825" "0" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic (recessive)" ""
"0000956826" "0" "90" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94010795C>T" "" "pathogenic (recessive)" ""
"0000956827" "0" "50" "1" "94496509" "94496509" "subst" "0.00475243" "01695" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94030953C>T" "" "VUS" ""
"0000956828" "0" "50" "1" "94467548" "94467548" "subst" "0.00295661" "01695" "ABCA4_000788" "g.94467548C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94001992C>G" "" "VUS" ""
"0000956829" "0" "70" "1" "94481299" "94481299" "subst" "0" "01695" "ABCA4_001705" "g.94481299A>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94015743A>C" "" "likely pathogenic (recessive)" ""
"0000956830" "0" "70" "1" "94578624" "94578624" "subst" "4.07408E-6" "01695" "ABCA4_001055" "g.94578624T>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94113068T>C" "" "likely pathogenic (recessive)" ""
"0000956831" "0" "90" "1" "94496583" "94496583" "subst" "2.03092E-5" "01695" "ABCA4_000190" "g.94496583A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94031027A>G" "" "pathogenic (recessive)" ""
"0000956832" "0" "90" "1" "94486896" "94486896" "subst" "3.65562E-5" "01695" "ABCA4_000085" "g.94486896G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94021340G>A" "" "pathogenic (recessive)" ""
"0000956833" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000956834" "0" "90" "1" "94492973" "94492973" "subst" "0" "01695" "ABCA4_000030" "g.94492973G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94027417G>A" "" "pathogenic (recessive)" ""
"0000956835" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000956836" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000956837" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000956838" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000956839" "0" "90" "1" "94463437" "94463437" "dup" "0" "01695" "ABCA4_000797" "g.94463437dup" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.93997881dup" "" "pathogenic (recessive)" ""
"0000956840" "0" "90" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94005509G>A" "" "pathogenic (recessive)" ""
"0000956841" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000956842" "0" "70" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94001068C>T" "" "likely pathogenic (recessive)" ""
"0000956843" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000956844" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000956845" "0" "90" "1" "94485137" "94485137" "subst" "0" "01695" "ABCA4_000464" "g.94485137C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94019581C>T" "" "pathogenic (recessive)" ""
"0000956846" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000956847" "0" "90" "1" "94578596" "94578596" "subst" "4.06478E-6" "01695" "ABCA4_000250" "g.94578596C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94113040C>T" "" "pathogenic (recessive)" ""
"0000956848" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000956849" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000956850" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000956851" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000956852" "0" "90" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94010795C>T" "" "pathogenic (recessive)" ""
"0000956853" "0" "50" "1" "94564500" "94564500" "subst" "0.00100414" "01695" "ABCA4_000069" "g.94564500G>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94098944G>C" "" "VUS" ""
"0000956854" "0" "70" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94001068C>T" "" "likely pathogenic (recessive)" ""
"0000956855" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000956856" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000956857" "0" "90" "1" "94484001" "94484001" "subst" "0" "01695" "ABCA4_000016" "g.94484001C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94018445C>T" "" "pathogenic (recessive)" ""
"0000956858" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000956859" "0" "90" "1" "94471025" "94471025" "subst" "0.00031698" "01695" "ABCA4_000096" "g.94471025C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94005469C>T" "" "pathogenic (recessive)" ""
"0000956860" "0" "90" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94005509G>A" "" "pathogenic (recessive)" ""
"0000956861" "0" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic (recessive)" ""
"0000956862" "0" "90" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94010795C>T" "" "pathogenic (recessive)" ""
"0000956863" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000956864" "0" "50" "1" "94487460" "94487460" "subst" "0.000113716" "01695" "ABCA4_000505" "g.94487460G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94021904G>A" "" "VUS" ""
"0000956865" "0" "90" "1" "94506923" "94506923" "subst" "2.43657E-5" "01695" "ABCA4_000012" "g.94506923C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94041367C>T" "" "pathogenic (recessive)" ""
"0000956866" "0" "90" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94029515C>T" "" "pathogenic (recessive)" ""
"0000956867" "0" "90" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94031110G>A" "" "pathogenic (recessive)" ""
"0000956868" "0" "70" "1" "94463399" "94463413" "del" "0" "01695" "ABCA4_000851" "g.94463399_94463413del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.93997843_93997857del" "" "likely pathogenic (recessive)" ""
"0000956869" "0" "90" "1" "94487251" "94487251" "subst" "2.85679E-5" "01695" "ABCA4_000490" "g.94487251G>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94021695G>T" "" "pathogenic (recessive)" ""
"0000956870" "0" "90" "1" "94476425" "94476425" "subst" "8.12282E-6" "01695" "ABCA4_000419" "g.94476425A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94010869A>G" "" "pathogenic (recessive)" ""
"0000956871" "0" "90" "1" "94463488" "94463488" "subst" "5.2803E-5" "01695" "ABCA4_000802" "g.94463488G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.93997932G>A" "" "pathogenic (recessive)" ""
"0000956872" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000956873" "0" "70" "1" "94463399" "94463413" "del" "0" "01695" "ABCA4_000851" "g.94463399_94463413del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.93997843_93997857del" "" "likely pathogenic (recessive)" ""
"0000956874" "0" "90" "1" "94484001" "94484001" "subst" "0" "01695" "ABCA4_000016" "g.94484001C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94018445C>T" "" "pathogenic (recessive)" ""
"0000956875" "0" "90" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94010795C>T" "" "pathogenic (recessive)" ""
"0000956876" "0" "50" "1" "94517254" "94517254" "subst" "4.06478E-6" "01695" "ABCA4_000158" "g.94517254C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94051698C>T" "" "VUS" ""
"0000956877" "0" "90" "1" "94484001" "94484001" "subst" "0" "01695" "ABCA4_000016" "g.94484001C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94018445C>T" "" "pathogenic (recessive)" ""
"0000956878" "0" "70" "1" "94476853" "94476853" "subst" "4.06243E-6" "01695" "ABCA4_000429" "g.94476853A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94011297A>G" "" "likely pathogenic (recessive)" ""
"0000956879" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000956880" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000956881" "0" "90" "1" "94484001" "94484001" "subst" "0" "01695" "ABCA4_000016" "g.94484001C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94018445C>T" "" "pathogenic (recessive)" ""
"0000956882" "0" "90" "1" "94484001" "94484001" "subst" "0" "01695" "ABCA4_000016" "g.94484001C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94018445C>T" "" "pathogenic (recessive)" ""
"0000956883" "0" "70" "1" "94487436" "94487436" "subst" "2.03047E-5" "01695" "ABCA4_000498" "g.94487436A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94021880A>G" "" "likely pathogenic (recessive)" ""
"0000956884" "0" "90" "1" "94495009" "94495009" "dup" "0" "01695" "ABCA4_000087" "g.94495009dup" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94029453dup" "" "pathogenic (recessive)" ""
"0000956885" "0" "90" "1" "94463488" "94463488" "subst" "5.2803E-5" "01695" "ABCA4_000802" "g.94463488G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.93997932G>A" "" "pathogenic (recessive)" ""
"0000956886" "0" "90" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94031110G>A" "" "pathogenic (recessive)" ""
"0000956887" "0" "70" "1" "94463425" "94463425" "subst" "0.000109787" "01695" "ABCA4_000853" "g.94463425G>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.93997869G>C" "" "likely pathogenic (recessive)" ""
"0000956888" "0" "90" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94010795C>T" "" "pathogenic (recessive)" ""
"0000956889" "0" "90" "1" "94473266" "94473266" "subst" "8.14677E-6" "01695" "ABCA4_000389" "g.94473266C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94007710C>T" "" "pathogenic (recessive)" ""
"0000956890" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000956891" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000956892" "0" "90" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94010795C>T" "" "pathogenic (recessive)" ""
"0000956893" "0" "90" "1" "94496583" "94496583" "subst" "2.03092E-5" "01695" "ABCA4_000190" "g.94496583A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94031027A>G" "" "pathogenic (recessive)" ""
"0000956894" "0" "90" "1" "94486896" "94486896" "subst" "3.65562E-5" "01695" "ABCA4_000085" "g.94486896G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94021340G>A" "" "pathogenic (recessive)" ""
"0000956895" "0" "90" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94010795C>T" "" "pathogenic (recessive)" ""
"0000956896" "0" "90" "1" "94508386" "94508386" "subst" "1.62443E-5" "01695" "ABCA4_000642" "g.94508386C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94042830C>T" "" "pathogenic (recessive)" ""
"0000956897" "0" "50" "1" "94502318" "94502323" "del" "0" "01695" "ABCA4_000591" "g.94502318_94502323del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94036762_94036767del" "" "VUS" ""
"0000956898" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000956899" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000956900" "0" "90" "1" "94466422" "94466422" "subst" "2.43651E-5" "01695" "ABCA4_000817" "g.94466422C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94000866C>T" "" "pathogenic (recessive)" ""
"0000956901" "0" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic (recessive)" ""
"0000956902" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000956903" "0" "70" "1" "94564460" "94564460" "subst" "8.1355E-6" "01695" "ABCA4_000056" "g.94564460G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94098904G>A" "" "likely pathogenic (recessive)" ""
"0000956904" "0" "50" "1" "94526125" "94526125" "subst" "0" "01695" "ABCA4_000751" "g.94526125T>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94060569T>C" "" "VUS" ""
"0000956905" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000956906" "0" "90" "1" "94486896" "94486896" "subst" "3.65562E-5" "01695" "ABCA4_000085" "g.94486896G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94021340G>A" "" "pathogenic (recessive)" ""
"0000956907" "0" "90" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94010795C>T" "" "pathogenic (recessive)" ""
"0000956908" "0" "90" "1" "94473278" "94473278" "del" "3.25908E-5" "01695" "ABCA4_000392" "g.94473278del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94007722del" "" "pathogenic (recessive)" ""
"0000956909" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000956910" "0" "70" "1" "94463399" "94463413" "del" "0" "01695" "ABCA4_000851" "g.94463399_94463413del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.93997843_93997857del" "" "likely pathogenic (recessive)" ""
"0000956911" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000956912" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000956913" "0" "70" "1" "94466480" "94466480" "subst" "4.06088E-6" "01695" "ABCA4_000827" "g.94466480C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94000924C>T" "" "likely pathogenic (recessive)" ""
"0000956914" "0" "90" "1" "94471056" "94471056" "subst" "2.84398E-5" "01695" "ABCA4_000050" "g.94471056G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94005500G>A" "" "pathogenic (recessive)" ""
"0000956915" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000956916" "0" "90" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94005509G>A" "" "pathogenic (recessive)" ""
"0000956917" "0" "90" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94010795C>T" "" "pathogenic (recessive)" ""
"0000956918" "0" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic (recessive)" ""
"0000956919" "0" "70" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94001068C>T" "" "likely pathogenic (recessive)" ""
"0000956920" "0" "70" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94001068C>T" "" "likely pathogenic (recessive)" ""
"0000956921" "0" "50" "1" "94502756" "94502756" "subst" "0.000422575" "01695" "ABCA4_000032" "g.94502756G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94037200G>A" "" "VUS" ""
"0000956922" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000956923" "0" "90" "1" "94484001" "94484001" "subst" "0" "01695" "ABCA4_000016" "g.94484001C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94018445C>T" "" "pathogenic (recessive)" ""
"0000956924" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000956925" "0" "50" "1" "94564500" "94564500" "subst" "0.00100414" "01695" "ABCA4_000069" "g.94564500G>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94098944G>C" "" "VUS" ""
"0000956926" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000956927" "0" "90" "1" "94578596" "94578596" "subst" "4.06478E-6" "01695" "ABCA4_000250" "g.94578596C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94113040C>T" "" "pathogenic (recessive)" ""
"0000956928" "0" "70" "1" "94463399" "94463413" "del" "0" "01695" "ABCA4_000851" "g.94463399_94463413del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.93997843_93997857del" "" "likely pathogenic (recessive)" ""
"0000956929" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000956930" "0" "70" "1" "94546265" "94546265" "subst" "2.04063E-5" "01695" "ABCA4_000355" "g.94546265G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94080709G>A" "" "likely pathogenic (recessive)" ""
"0000956931" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000956932" "0" "30" "1" "94528143" "94528143" "subst" "0.00124448" "01695" "ABCA4_000076" "g.94528143C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94062587C>T" "" "likely benign" ""
"0000956933" "0" "90" "1" "94490567" "94490567" "subst" "5.68528E-5" "01695" "ABCA4_000026" "g.94490567G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94025011G>A" "" "pathogenic (recessive)" ""
"0000956934" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000956935" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000956936" "0" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic (recessive)" ""
"0000956937" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000956938" "0" "50" "1" "94474421" "94474421" "subst" "8.14133E-6" "01695" "ABCA4_002775" "g.94474421G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008865G>A" "" "VUS" ""
"0000956939" "0" "90" "1" "94495177" "94495177" "del" "0" "01695" "ABCA4_001038" "g.94495177del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94029621del" "" "pathogenic (recessive)" ""
"0000956940" "0" "50" "1" "94487490" "94487490" "subst" "0.00122268" "01695" "ABCA4_000506" "g.94487490A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94021934A>G" "" "VUS" ""
"0000956941" "0" "50" "1" "94473287" "94473287" "subst" "0.00293818" "01695" "ABCA4_000395" "g.94473287G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94007731G>A" "" "VUS" ""
"0000956942" "0" "90" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94031110G>A" "" "pathogenic (recessive)" ""
"0000956943" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000956944" "0" "90" "1" "94483922" "94483922" "subst" "0" "01695" "ABCA4_000027" "g.94483922G>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94018366G>T" "" "pathogenic (recessive)" ""
"0000956945" "0" "70" "1" "94496010" "94496010" "subst" "1.62434E-5" "01695" "ABCA4_000549" "g.94496010G>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94030454G>T" "" "likely pathogenic (recessive)" ""
"0000956946" "0" "90" "1" "94546283" "94546283" "subst" "8.18311E-5" "01695" "ABCA4_000356" "g.94546283A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94080727A>G" "" "pathogenic (recessive)" ""
"0000956947" "0" "90" "1" "94473789" "94473789" "subst" "0" "01695" "ABCA4_001644" "g.94473789A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008233A>G" "" "pathogenic (recessive)" ""
"0000956948" "0" "70" "1" "94484001" "94484001" "subst" "0" "01695" "ABCA4_002783" "g.94484001C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94018445C>G" "" "likely pathogenic (recessive)" ""
"0000956949" "0" "50" "1" "94467548" "94467548" "subst" "0.00295661" "01695" "ABCA4_000788" "g.94467548C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94001992C>G" "" "VUS" ""
"0000956950" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000956951" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000956952" "0" "90" "1" "94473790" "94473790" "subst" "0" "01695" "ABCA4_000399" "g.94473790C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008234C>T" "" "pathogenic (recessive)" ""
"0000956953" "0" "90" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94031110G>A" "" "pathogenic (recessive)" ""
"0000956954" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000956955" "0" "70" "1" "94458800" "94458800" "subst" "0" "01695" "ABCA4_001557" "g.94458800T>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.93993244T>G" "" "likely pathogenic (recessive)" ""
"0000956956" "0" "90" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94005509G>A" "" "pathogenic (recessive)" ""
"0000956957" "0" "90" "1" "94471026" "94471026" "subst" "1.21925E-5" "01695" "ABCA4_000791" "g.94471026G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94005470G>A" "" "pathogenic (recessive)" ""
"0000956958" "0" "90" "1" "94471026" "94471026" "subst" "1.21925E-5" "01695" "ABCA4_000791" "g.94471026G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94005470G>A" "" "pathogenic (recessive)" ""
"0000956959" "0" "90" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94029515C>T" "" "pathogenic (recessive)" ""
"0000956960" "0" "90" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94029515C>T" "" "pathogenic (recessive)" ""
"0000956961" "0" "90" "1" "94466625" "94466625" "subst" "1.62559E-5" "01695" "ABCA4_000839" "g.94466625G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94001069G>A" "" "pathogenic (recessive)" ""
"0000956962" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000956963" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000956964" "0" "90" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94098928G>A" "" "pathogenic (recessive)" ""
"0000956965" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000956966" "0" "90" "1" "94508386" "94508386" "subst" "1.62443E-5" "01695" "ABCA4_000642" "g.94508386C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94042830C>T" "" "pathogenic (recessive)" ""
"0000956967" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000956968" "0" "90" "1" "94508386" "94508386" "subst" "1.62443E-5" "01695" "ABCA4_000642" "g.94508386C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94042830C>T" "" "pathogenic (recessive)" ""
"0000956969" "0" "90" "1" "94492973" "94492973" "subst" "0" "01695" "ABCA4_000030" "g.94492973G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94027417G>A" "" "pathogenic (recessive)" ""
"0000956970" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000956971" "0" "90" "1" "94471026" "94471026" "subst" "1.21925E-5" "01695" "ABCA4_000791" "g.94471026G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94005470G>A" "" "pathogenic (recessive)" ""
"0000956972" "0" "90" "1" "94471026" "94471026" "subst" "1.21925E-5" "01695" "ABCA4_000791" "g.94471026G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94005470G>A" "" "pathogenic (recessive)" ""
"0000956973" "0" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic (recessive)" ""
"0000956974" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000956975" "0" "90" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94010795C>T" "" "pathogenic (recessive)" ""
"0000956976" "0" "90" "1" "94548932" "94548932" "del" "4.06587E-6" "01695" "ABCA4_001022" "g.94548932del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94083376del" "" "pathogenic (recessive)" ""
"0000956977" "0" "90" "1" "94471055" "94471055" "subst" "0.00035346" "01695" "ABCA4_000029" "g.94471055C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94005499C>T" "" "pathogenic (recessive)" ""
"0000956978" "0" "90" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94098928G>A" "" "pathogenic (recessive)" ""
"0000956979" "0" "90" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94010795C>T" "" "pathogenic (recessive)" ""
"0000956980" "0" "50" "1" "94514477" "94514477" "subst" "0.00118992" "01695" "ABCA4_000700" "g.94514477G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94048921G>A" "" "VUS" ""
"0000956981" "0" "90" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94010795C>T" "" "pathogenic (recessive)" ""
"0000956982" "0" "50" "1" "94473287" "94473287" "subst" "0.00293818" "01695" "ABCA4_000395" "g.94473287G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94007731G>A" "" "VUS" ""
"0000956983" "0" "90" "1" "94484001" "94484001" "subst" "0" "01695" "ABCA4_000016" "g.94484001C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94018445C>T" "" "pathogenic (recessive)" ""
"0000956984" "0" "50" "1" "94467548" "94467548" "subst" "0.00295661" "01695" "ABCA4_000788" "g.94467548C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94001992C>G" "" "VUS" ""
"0000956985" "0" "90" "1" "94466422" "94466422" "subst" "2.43651E-5" "01695" "ABCA4_000817" "g.94466422C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94000866C>T" "" "pathogenic (recessive)" ""
"0000956986" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000956987" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000956988" "0" "90" "1" "94509026" "94509026" "subst" "4.06497E-5" "01695" "ABCA4_000660" "g.94509026G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94043470G>A" "" "pathogenic (recessive)" ""
"0000956989" "0" "90" "1" "94564463" "94564463" "subst" "0" "01695" "ABCA4_000381" "g.94564463T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94098907T>A" "" "pathogenic (recessive)" ""
"0000956990" "0" "90" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94005509G>A" "" "pathogenic (recessive)" ""
"0000956991" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000956992" "0" "90" "1" "94480232" "94480232" "subst" "0" "01695" "ABCA4_000444" "g.94480232G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94014676G>A" "" "pathogenic (recessive)" ""
"0000956993" "0" "70" "1" "94463399" "94463413" "del" "0" "01695" "ABCA4_000851" "g.94463399_94463413del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.93997843_93997857del" "" "likely pathogenic (recessive)" ""
"0000956994" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000956995" "0" "90" "1" "94466625" "94466625" "subst" "1.62559E-5" "01695" "ABCA4_000839" "g.94466625G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94001069G>A" "" "pathogenic (recessive)" ""
"0000956996" "0" "90" "1" "94508435" "94508436" "dup" "0" "01695" "ABCA4_000998" "g.94508435_94508436dup" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94042879_94042880dup" "" "pathogenic (recessive)" ""
"0000956997" "0" "90" "1" "94568687" "94568687" "subst" "1.62641E-5" "01695" "ABCA4_000024" "g.94568687G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94103131G>A" "" "pathogenic (recessive)" ""
"0000956998" "0" "90" "1" "94486836" "94486836" "del" "0" "01695" "ABCA4_000481" "g.94486836del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94021280del" "" "pathogenic (recessive)" ""
"0000956999" "0" "90" "1" "94466422" "94466422" "subst" "2.43651E-5" "01695" "ABCA4_000817" "g.94466422C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94000866C>T" "" "pathogenic (recessive)" ""
"0000957000" "0" "70" "1" "94528713" "94528713" "subst" "4.87381E-5" "01695" "ABCA4_000072" "g.94528713C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94063157C>T" "" "likely pathogenic (recessive)" ""
"0000957001" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000957002" "0" "90" "1" "94526212" "94526212" "subst" "1.22012E-5" "01695" "ABCA4_000075" "g.94526212G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94060656G>A" "" "pathogenic (recessive)" ""
"0000957003" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000957004" "0" "90" "1" "94490567" "94490567" "subst" "5.68528E-5" "01695" "ABCA4_000026" "g.94490567G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94025011G>A" "" "pathogenic (recessive)" ""
"0000957005" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000957006" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000957007" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000957008" "0" "90" "1" "94490567" "94490567" "subst" "5.68528E-5" "01695" "ABCA4_000026" "g.94490567G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94025011G>A" "" "pathogenic (recessive)" ""
"0000957009" "0" "90" "1" "94471056" "94471056" "subst" "2.84398E-5" "01695" "ABCA4_000050" "g.94471056G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94005500G>A" "" "pathogenic (recessive)" ""
"0000957010" "0" "90" "1" "94506895" "94506895" "del" "0" "01695" "ABCA4_000620" "g.94506895del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94041339del" "" "pathogenic (recessive)" ""
"0000957011" "0" "90" "1" "94546283" "94546283" "subst" "8.18311E-5" "01695" "ABCA4_000356" "g.94546283A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94080727A>G" "" "pathogenic (recessive)" ""
"0000957012" "0" "90" "1" "94506895" "94506895" "del" "0" "01695" "ABCA4_000620" "g.94506895del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94041339del" "" "pathogenic (recessive)" ""
"0000957013" "0" "90" "1" "94546283" "94546283" "subst" "8.18311E-5" "01695" "ABCA4_000356" "g.94546283A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94080727A>G" "" "pathogenic (recessive)" ""
"0000957014" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000957015" "0" "90" "1" "94466422" "94466422" "subst" "2.43651E-5" "01695" "ABCA4_000817" "g.94466422C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94000866C>T" "" "pathogenic (recessive)" ""
"0000957016" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000957017" "0" "50" "1" "94487490" "94487490" "subst" "0.00122268" "01695" "ABCA4_000506" "g.94487490A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94021934A>G" "" "VUS" ""
"0000957018" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000957019" "0" "50" "1" "94492935" "94492935" "subst" "0" "01695" "ABCA4_002789" "g.94492935G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94027379G>A" "" "VUS" ""
"0000957020" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000957021" "0" "90" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94005509G>A" "" "pathogenic (recessive)" ""
"0000957022" "0" "90" "1" "94471025" "94471025" "subst" "0.00031698" "01695" "ABCA4_000096" "g.94471025C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94005469C>T" "" "pathogenic (recessive)" ""
"0000957023" "0" "90" "1" "94471025" "94471025" "subst" "0.00031698" "01695" "ABCA4_000096" "g.94471025C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94005469C>T" "" "pathogenic (recessive)" ""
"0000957024" "0" "50" "1" "94496509" "94496509" "subst" "0.00475243" "01695" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94030953C>T" "" "VUS" ""
"0000957025" "0" "90" "1" "94496571" "94496571" "subst" "4.06174E-6" "01695" "ABCA4_000111" "g.94496571G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94031015G>A" "" "pathogenic (recessive)" ""
"0000957026" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000957027" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000957028" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000957029" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000957030" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000957031" "0" "50" "1" "94546248" "94546248" "del" "2.03666E-5" "01695" "ABCA4_000352" "g.94546248del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94080692del" "" "VUS" ""
"0000957032" "0" "90" "1" "94495021" "94495021" "subst" "0.000161713" "01695" "ABCA4_000538" "g.94495021C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94029465C>T" "" "pathogenic (recessive)" ""
"0000957033" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000957034" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000957035" "0" "70" "1" "94463399" "94463413" "del" "0" "01695" "ABCA4_000851" "g.94463399_94463413del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.93997843_93997857del" "" "likely pathogenic (recessive)" ""
"0000957036" "0" "90" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94010795C>T" "" "pathogenic (recessive)" ""
"0000957037" "0" "90" "1" "94486896" "94486896" "subst" "3.65562E-5" "01695" "ABCA4_000085" "g.94486896G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94021340G>A" "" "pathogenic (recessive)" ""
"0000957038" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000957039" "0" "50" "1" "94466433" "94466433" "subst" "1.21827E-5" "01695" "ABCA4_002768" "g.94466433G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94000877G>A" "" "VUS" ""
"0000957040" "0" "90" "1" "94463488" "94463488" "subst" "5.2803E-5" "01695" "ABCA4_000802" "g.94463488G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.93997932G>A" "" "pathogenic (recessive)" ""
"0000957041" "0" "90" "1" "94466426" "94466426" "subst" "1.62433E-5" "01695" "ABCA4_000124" "g.94466426G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94000870G>A" "" "pathogenic (recessive)" ""
"0000957042" "0" "90" "1" "94486791" "94486791" "subst" "0" "01695" "ABCA4_001253" "g.94486791C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94021235C>T" "" "pathogenic (recessive)" ""
"0000957043" "0" "90" "1" "94466426" "94466426" "subst" "1.62433E-5" "01695" "ABCA4_000124" "g.94466426G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94000870G>A" "" "pathogenic (recessive)" ""
"0000957044" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000957045" "0" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic (recessive)" ""
"0000957046" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000957047" "0" "90" "1" "94568687" "94568687" "subst" "1.62641E-5" "01695" "ABCA4_000024" "g.94568687G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94103131G>A" "" "pathogenic (recessive)" ""
"0000957048" "0" "90" "1" "94564387" "94564387" "subst" "4.06111E-6" "01695" "ABCA4_000372" "g.94564387A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94098831A>G" "" "pathogenic (recessive)" ""
"0000957049" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000957050" "0" "90" "1" "94496008" "94496008" "subst" "2.03056E-5" "01695" "ABCA4_000148" "g.94496008C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94030452C>T" "" "pathogenic (recessive)" ""
"0000957051" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000957052" "0" "90" "1" "94486896" "94486896" "subst" "3.65562E-5" "01695" "ABCA4_000085" "g.94486896G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94021340G>A" "" "pathogenic (recessive)" ""
"0000957053" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000957054" "0" "90" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94005509G>A" "" "pathogenic (recessive)" ""
"0000957055" "0" "90" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94098928G>A" "" "pathogenic (recessive)" ""
"0000957056" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000957057" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000957058" "0" "90" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94005509G>A" "" "pathogenic (recessive)" ""
"0000957059" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000957060" "0" "90" "1" "94490567" "94490567" "subst" "5.68528E-5" "01695" "ABCA4_000026" "g.94490567G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94025011G>A" "" "pathogenic (recessive)" ""
"0000957061" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000957062" "0" "50" "1" "94502318" "94502323" "del" "0" "01695" "ABCA4_000591" "g.94502318_94502323del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94036762_94036767del" "" "VUS" ""
"0000957063" "0" "90" "1" "94508435" "94508436" "dup" "0" "01695" "ABCA4_000998" "g.94508435_94508436dup" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94042879_94042880dup" "" "pathogenic (recessive)" ""
"0000957064" "0" "90" "1" "94578596" "94578596" "subst" "4.06478E-6" "01695" "ABCA4_000250" "g.94578596C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94113040C>T" "" "pathogenic (recessive)" ""
"0000957065" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000957066" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000957067" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000957068" "0" "70" "1" "94487505" "94487505" "subst" "4.06349E-6" "01695" "ABCA4_000507" "g.94487505T>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94021949T>C" "" "likely pathogenic (recessive)" ""
"0000957069" "0" "50" "1" "94467548" "94467548" "subst" "0.00295661" "01695" "ABCA4_000788" "g.94467548C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94001992C>G" "" "VUS" ""
"0000957070" "0" "90" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94098928G>A" "" "pathogenic (recessive)" ""
"0000957071" "0" "50" "1" "94473287" "94473287" "subst" "0.00293818" "01695" "ABCA4_000395" "g.94473287G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94007731G>A" "" "VUS" ""
"0000957072" "0" "90" "1" "94496008" "94496008" "subst" "2.03056E-5" "01695" "ABCA4_000148" "g.94496008C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94030452C>T" "" "pathogenic (recessive)" ""
"0000957073" "0" "90" "1" "94463488" "94463488" "subst" "5.2803E-5" "01695" "ABCA4_000802" "g.94463488G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.93997932G>A" "" "pathogenic (recessive)" ""
"0000957074" "0" "50" "1" "94520694" "94520694" "subst" "0" "01695" "ABCA4_002807" "g.94520694C>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94055138C>A" "" "VUS" ""
"0000957075" "0" "90" "1" "94496583" "94496583" "subst" "2.03092E-5" "01695" "ABCA4_000190" "g.94496583A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94031027A>G" "" "pathogenic (recessive)" ""
"0000957076" "0" "90" "1" "94486896" "94486896" "subst" "3.65562E-5" "01695" "ABCA4_000085" "g.94486896G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94021340G>A" "" "pathogenic (recessive)" ""
"0000957077" "0" "70" "1" "94466455" "94466455" "subst" "0" "01695" "ABCA4_000165" "g.94466455C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94000899C>G" "" "likely pathogenic (recessive)" ""
"0000957078" "0" "50" "1" "94466592" "94466592" "del" "0" "01695" "ABCA4_000835" "g.94466592del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94001036del" "" "VUS" ""
"0000957079" "0" "50" "1" "94485279" "94485293" "del" "0" "01695" "ABCA4_000476" "g.94485279_94485293del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94019723_94019737del" "" "VUS" ""
"0000957080" "0" "90" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94098928G>A" "" "pathogenic (recessive)" ""
"0000957081" "0" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic (recessive)" ""
"0000957082" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000957083" "0" "90" "1" "94487401" "94487401" "subst" "0" "01695" "ABCA4_000495" "g.94487401C>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94021845C>A" "" "pathogenic (recessive)" ""
"0000957084" "0" "70" "1" "94486836" "94486836" "subst" "8.12255E-6" "01695" "ABCA4_001739" "g.94486836G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94021280G>A" "" "likely pathogenic (recessive)" ""
"0000957085" "0" "90" "1" "94471056" "94471056" "subst" "2.84398E-5" "01695" "ABCA4_000050" "g.94471056G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94005500G>A" "" "pathogenic (recessive)" ""
"0000957086" "0" "70" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94001068C>T" "" "likely pathogenic (recessive)" ""
"0000957087" "0" "50" "1" "94485283" "94485283" "subst" "1.64078E-5" "01695" "ABCA4_001734" "g.94485283A>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94019727A>T" "" "VUS" ""
"0000957088" "0" "90" "1" "94486895" "94486895" "subst" "3.24923E-5" "01695" "ABCA4_000484" "g.94486895C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94021339C>T" "" "pathogenic (recessive)" ""
"0000957089" "0" "50" "1" "94564355" "94564355" "subst" "0.000105612" "01695" "ABCA4_000365" "g.94564355G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94098799G>A" "" "VUS" ""
"0000957090" "0" "70" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94001068C>T" "" "likely pathogenic (recessive)" ""
"0000957091" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000957092" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000957093" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000957094" "0" "90" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94098928G>A" "" "pathogenic (recessive)" ""
"0000957095" "0" "90" "1" "94466422" "94466422" "subst" "2.43651E-5" "01695" "ABCA4_000817" "g.94466422C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94000866C>T" "" "pathogenic (recessive)" ""
"0000957096" "0" "90" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94010795C>T" "" "pathogenic (recessive)" ""
"0000957097" "0" "70" "1" "94512566" "94512566" "subst" "7.31149E-5" "01695" "ABCA4_000693" "g.94512566G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94047010G>A" "" "likely pathogenic (recessive)" ""
"0000957098" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000957099" "0" "50" "1" "94508425" "94508425" "subst" "3.6547E-5" "01695" "ABCA4_002802" "g.94508425T>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94042869T>C" "" "VUS" ""
"0000957100" "0" "90" "1" "94471032" "94471032" "subst" "1.62553E-5" "01695" "ABCA4_000792" "g.94471032G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94005476G>A" "" "pathogenic (recessive)" ""
"0000957101" "0" "90" "1" "94473278" "94473278" "del" "3.25908E-5" "01695" "ABCA4_000392" "g.94473278del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94007722del" "" "pathogenic (recessive)" ""
"0000957102" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000957103" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000957104" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000957105" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000957106" "0" "70" "1" "94463399" "94463413" "del" "0" "01695" "ABCA4_000851" "g.94463399_94463413del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.93997843_93997857del" "" "likely pathogenic (recessive)" ""
"0000957107" "0" "70" "1" "94466658" "94466658" "subst" "8.14817E-6" "01695" "ABCA4_000132" "g.94466658C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94001102C>T" "" "likely pathogenic (recessive)" ""
"0000957108" "0" "90" "1" "94466592" "94466592" "del" "0" "01695" "ABCA4_000835" "g.94466592del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94001036del" "" "pathogenic (recessive)" ""
"0000957109" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000957110" "0" "90" "1" "94467467" "94467467" "subst" "4.06164E-6" "01695" "ABCA4_000780" "g.94467467G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94001911G>A" "" "pathogenic (recessive)" ""
"0000957111" "0" "90" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94010795C>T" "" "pathogenic (recessive)" ""
"0000957112" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000957113" "0" "50" "1" "94480249" "94480249" "subst" "0" "01695" "ABCA4_000449" "g.94480249G>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94014693G>C" "" "VUS" ""
"0000957114" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000957115" "0" "70" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94001068C>T" "" "likely pathogenic (recessive)" ""
"0000957116" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000957117" "0" "50" "1" "94473287" "94473287" "subst" "0.00293818" "01695" "ABCA4_000395" "g.94473287G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94007731G>A" "" "VUS" ""
"0000957118" "0" "90" "1" "94463550" "94463550" "del" "0" "01695" "ABCA4_002765" "g.94463550del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.93997994del" "" "pathogenic (recessive)" ""
"0000957119" "0" "90" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94010795C>T" "" "pathogenic (recessive)" ""
"0000957120" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000957121" "0" "70" "1" "94463499" "94463499" "subst" "1.21857E-5" "01695" "ABCA4_001568" "g.94463499G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.93997943G>A" "" "likely pathogenic (recessive)" ""
"0000957122" "0" "90" "1" "94480241" "94480241" "subst" "7.71705E-5" "01695" "ABCA4_000446" "g.94480241G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94014685G>A" "" "pathogenic (recessive)" ""
"0000957123" "0" "90" "1" "94471032" "94471032" "subst" "1.62553E-5" "01695" "ABCA4_000792" "g.94471032G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94005476G>A" "" "pathogenic (recessive)" ""
"0000957124" "0" "70" "1" "94506805" "94506805" "subst" "2.03051E-5" "01695" "ABCA4_001294" "g.94506805C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94041249C>T" "" "likely pathogenic (recessive)" ""
"0000957125" "0" "50" "1" "94496509" "94496509" "subst" "0.00475243" "01695" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94030953C>T" "" "VUS" ""
"0000957126" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000957127" "0" "90" "1" "94495009" "94495009" "dup" "0" "01695" "ABCA4_000087" "g.94495009dup" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94029453dup" "" "pathogenic (recessive)" ""
"0000957128" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000957129" "0" "50" "1" "94488946" "94488946" "subst" "0" "01695" "ABCA4_002787" "g.94488946G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94023390G>A" "" "VUS" ""
"0000957130" "0" "50" "1" "94463452" "94463452" "subst" "9.34412E-5" "01695" "ABCA4_000870" "g.94463452C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.93997896C>T" "" "VUS" ""
"0000957131" "0" "50" "1" "94548907" "94548907" "subst" "4.07126E-6" "01695" "ABCA4_001322" "g.94548907C>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94083351C>A" "" "VUS" ""
"0000957132" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000957133" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000957134" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000957135" "0" "90" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94031110G>A" "" "pathogenic (recessive)" ""
"0000957136" "0" "50" "1" "94580645" "94580645" "subst" "0" "01695" "ABCA4_002512" "g.94580645A>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94115089A>C" "" "VUS" ""
"0000957137" "0" "90" "1" "94466422" "94466422" "subst" "2.43651E-5" "01695" "ABCA4_000817" "g.94466422C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94000866C>T" "" "pathogenic (recessive)" ""
"0000957138" "0" "90" "1" "94466422" "94466422" "subst" "2.43651E-5" "01695" "ABCA4_000817" "g.94466422C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94000866C>T" "" "pathogenic (recessive)" ""
"0000957139" "0" "70" "1" "94466391" "94466391" "subst" "0" "01695" "ABCA4_000814" "g.94466391C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94000835C>T" "" "likely pathogenic (recessive)" ""
"0000957140" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000957141" "0" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic (recessive)" ""
"0000957142" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000957143" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000957144" "0" "90" "1" "94485137" "94485137" "subst" "0" "01695" "ABCA4_000464" "g.94485137C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94019581C>T" "" "pathogenic (recessive)" ""
"0000957145" "0" "90" "1" "94473254" "94473264" "dup" "0" "01695" "ABCA4_001637" "g.94473254_94473264dup" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94007698_94007708dup" "" "pathogenic (recessive)" ""
"0000957146" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000957147" "0" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic (recessive)" ""
"0000957148" "0" "70" "1" "94496010" "94496010" "subst" "1.62434E-5" "01695" "ABCA4_000549" "g.94496010G>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94030454G>T" "" "likely pathogenic (recessive)" ""
"0000957149" "0" "70" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94001068C>T" "" "likely pathogenic (recessive)" ""
"0000957150" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000957151" "0" "90" "1" "94492973" "94492973" "subst" "0" "01695" "ABCA4_000030" "g.94492973G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94027417G>A" "" "pathogenic (recessive)" ""
"0000957152" "0" "90" "1" "94486896" "94486896" "subst" "3.65562E-5" "01695" "ABCA4_000085" "g.94486896G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94021340G>A" "" "pathogenic (recessive)" ""
"0000957153" "0" "90" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94098928G>A" "" "pathogenic (recessive)" ""
"0000957154" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000957155" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000957156" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000957157" "0" "70" "1" "94476886" "94476886" "subst" "4.06227E-6" "01695" "ABCA4_000433" "g.94476886A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94011330A>G" "" "likely pathogenic (recessive)" ""
"0000957158" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000957159" "0" "70" "1" "94512496" "94512496" "subst" "0" "01695" "ABCA4_001980" "g.94512496C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94046940C>T" "" "likely pathogenic (recessive)" ""
"0000957160" "0" "90" "1" "94466627" "94466627" "subst" "4.06408E-6" "01695" "ABCA4_000867" "g.94466627C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94001071C>T" "" "pathogenic (recessive)" ""
"0000957161" "0" "70" "1" "94509018" "94509018" "subst" "8.12869E-6" "01695" "ABCA4_000659" "g.94509018C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94043462C>T" "" "likely pathogenic (recessive)" ""
"0000957162" "0" "50" "1" "94463452" "94463452" "subst" "9.34412E-5" "01695" "ABCA4_000870" "g.94463452C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.93997896C>T" "" "VUS" ""
"0000957163" "0" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic (recessive)" ""
"0000957164" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000957165" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000957166" "0" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic (recessive)" ""
"0000957167" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000957168" "0" "50" "1" "94473290" "94473290" "subst" "0" "01695" "ABCA4_002611" "g.94473290C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94007734C>T" "" "VUS" ""
"0000957169" "0" "90" "1" "94510253" "94510253" "subst" "0.000247694" "01695" "ABCA4_000108" "g.94510253A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94044697A>G" "" "pathogenic (recessive)" ""
"0000957170" "0" "90" "1" "94496571" "94496571" "subst" "4.06174E-6" "01695" "ABCA4_000111" "g.94496571G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94031015G>A" "" "pathogenic (recessive)" ""
"0000957171" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000957172" "0" "90" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94029515C>T" "" "pathogenic (recessive)" ""
"0000957173" "0" "50" "1" "94466639" "94466639" "subst" "0" "01695" "ABCA4_002328" "g.94466639T>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94001083T>C" "" "VUS" ""
"0000957174" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000957175" "0" "50" "1" "94502337" "94502337" "subst" "4.06105E-6" "01695" "ABCA4_002796" "g.94502337A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94036781A>G" "" "VUS" ""
"0000957176" "0" "50" "1" "94476883" "94476883" "subst" "8.12466E-6" "01695" "ABCA4_002777" "g.94476883C>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94011327C>A" "" "VUS" ""
"0000957177" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000957178" "0" "90" "1" "94480243" "94480243" "subst" "4.06124E-6" "01695" "ABCA4_000448" "g.94480243C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94014687C>T" "" "pathogenic (recessive)" ""
"0000957179" "0" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic (recessive)" ""
"0000957180" "0" "50" "1" "94502347" "94502347" "subst" "0" "01695" "ABCA4_002797" "g.94502347G>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94036791G>T" "" "VUS" ""
"0000957181" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000957182" "0" "90" "1" "94486896" "94486896" "subst" "3.65562E-5" "01695" "ABCA4_000085" "g.94486896G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94021340G>A" "" "pathogenic (recessive)" ""
"0000957183" "0" "90" "1" "94487251" "94487251" "subst" "2.85679E-5" "01695" "ABCA4_000490" "g.94487251G>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94021695G>T" "" "pathogenic (recessive)" ""
"0000957184" "0" "90" "1" "94473278" "94473278" "del" "3.25908E-5" "01695" "ABCA4_000392" "g.94473278del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94007722del" "" "pathogenic (recessive)" ""
"0000957185" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000957186" "0" "90" "1" "94484001" "94484001" "subst" "0" "01695" "ABCA4_000016" "g.94484001C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94018445C>T" "" "pathogenic (recessive)" ""
"0000957187" "0" "90" "1" "94471055" "94471055" "subst" "0.00035346" "01695" "ABCA4_000029" "g.94471055C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94005499C>T" "" "pathogenic (recessive)" ""
"0000957188" "0" "90" "1" "94508386" "94508386" "subst" "1.62443E-5" "01695" "ABCA4_000642" "g.94508386C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94042830C>T" "" "pathogenic (recessive)" ""
"0000957189" "0" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic (recessive)" ""
"0000957190" "0" "50" "1" "94496509" "94496509" "subst" "0.00475243" "01695" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94030953C>T" "" "VUS" ""
"0000957191" "0" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic (recessive)" ""
"0000957192" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000957193" "0" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic (recessive)" ""
"0000957194" "0" "90" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94029515C>T" "" "pathogenic (recessive)" ""
"0000957195" "0" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic (recessive)" ""
"0000957196" "0" "90" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94029515C>T" "" "pathogenic (recessive)" ""
"0000957197" "0" "90" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94031110G>A" "" "pathogenic (recessive)" ""
"0000957198" "0" "90" "1" "94496547" "94496547" "subst" "4.06345E-6" "01695" "ABCA4_000559" "g.94496547C>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94030991C>A" "" "pathogenic (recessive)" ""
"0000957199" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000957200" "0" "90" "1" "94574244" "94574245" "del" "0" "01695" "ABCA4_002830" "g.94574244_94574245del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94108688_94108689del" "" "pathogenic (recessive)" ""
"0000957201" "0" "70" "1" "94486965" "94486965" "subst" "0" "01695" "ABCA4_001063" "g.94486965C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94021409C>T" "" "likely pathogenic (recessive)" ""
"0000957202" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000957203" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000957204" "0" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic (recessive)" ""
"0000957205" "0" "50" "1" "94487490" "94487490" "subst" "0.00122268" "01695" "ABCA4_000506" "g.94487490A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94021934A>G" "" "VUS" ""
"0000957206" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000957207" "0" "90" "1" "94471055" "94471055" "subst" "0.00035346" "01695" "ABCA4_000029" "g.94471055C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94005499C>T" "" "pathogenic (recessive)" ""
"0000957208" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000957209" "0" "90" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94005509G>A" "" "pathogenic (recessive)" ""
"0000957210" "0" "90" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94005509G>A" "" "pathogenic (recessive)" ""
"0000957211" "0" "90" "1" "94463488" "94463488" "subst" "5.2803E-5" "01695" "ABCA4_000802" "g.94463488G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.93997932G>A" "" "pathogenic (recessive)" ""
"0000957212" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000957213" "0" "90" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94010795C>T" "" "pathogenic (recessive)" ""
"0000957214" "0" "90" "1" "94463488" "94463488" "subst" "5.2803E-5" "01695" "ABCA4_000802" "g.94463488G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.93997932G>A" "" "pathogenic (recessive)" ""
"0000957215" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000957216" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000957217" "0" "90" "1" "94471056" "94471056" "subst" "2.84398E-5" "01695" "ABCA4_000050" "g.94471056G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94005500G>A" "" "pathogenic (recessive)" ""
"0000957218" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000957219" "0" "90" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94010795C>T" "" "pathogenic (recessive)" ""
"0000957220" "0" "90" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94031110G>A" "" "pathogenic (recessive)" ""
"0000957221" "0" "90" "1" "94471055" "94471055" "subst" "0.00035346" "01695" "ABCA4_000029" "g.94471055C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94005499C>T" "" "pathogenic (recessive)" ""
"0000957222" "0" "90" "1" "94471055" "94471055" "subst" "0.00035346" "01695" "ABCA4_000029" "g.94471055C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94005499C>T" "" "pathogenic (recessive)" ""
"0000957223" "0" "50" "1" "94481322" "94481330" "del" "0" "01695" "ABCA4_000453" "g.94481322_94481330del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94015766_94015774del" "" "VUS" ""
"0000957224" "0" "90" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94098928G>A" "" "pathogenic (recessive)" ""
"0000957225" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000957226" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "01695" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" ""
"0000957227" "0" "90" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94005509G>A" "" "pathogenic (recessive)" ""
"0000957228" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000957229" "0" "90" "1" "94546283" "94546283" "subst" "8.18311E-5" "01695" "ABCA4_000356" "g.94546283A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94080727A>G" "" "pathogenic (recessive)" ""
"0000957230" "0" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic (recessive)" ""
"0000957231" "0" "90" "1" "94495009" "94495009" "dup" "0" "01695" "ABCA4_000087" "g.94495009dup" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94029453dup" "" "pathogenic (recessive)" ""
"0000957232" "0" "90" "1" "94496666" "94496666" "subst" "0.000219568" "01695" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94031110G>A" "" "pathogenic (recessive)" ""
"0000957233" "0" "50" "1" "94577105" "94577105" "subst" "0" "01695" "ABCA4_000235" "g.94577105G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94111549G>A" "" "VUS" ""
"0000957234" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "01695" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" ""
"0000957235" "0" "70" "1" "94467487" "94467487" "subst" "0" "01695" "ABCA4_000783" "g.94467487G>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94001931G>C" "" "likely pathogenic (recessive)" ""
"0000957236" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000957237" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000957238" "0" "70" "1" "94517233" "94517233" "subst" "4.06161E-6" "01695" "ABCA4_000706" "g.94517233G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94051677G>A" "" "likely pathogenic (recessive)" ""
"0000957239" "0" "90" "1" "94471055" "94471055" "subst" "0.00035346" "01695" "ABCA4_000029" "g.94471055C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94005499C>T" "" "pathogenic (recessive)" ""
"0000957240" "0" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic (recessive)" ""
"0000957241" "0" "50" "1" "94495011" "94495011" "subst" "6.36472E-6" "01695" "ABCA4_002660" "g.94495011G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94029455G>A" "" "VUS" ""
"0000957242" "0" "50" "1" "94471104" "94471104" "subst" "0" "01695" "ABCA4_002607" "g.94471104T>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94005548T>C" "" "VUS" ""
"0000957243" "0" "50" "1" "94510215" "94510215" "subst" "1.21818E-5" "01695" "ABCA4_000666" "g.94510215G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94044659G>A" "" "VUS" ""
"0000957244" "0" "50" "1" "94485278" "94485278" "subst" "0.000487317" "01695" "ABCA4_000101" "g.94485278C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94019722C>T" "" "VUS" ""
"0000957245" "0" "90" "1" "94473278" "94473278" "del" "3.25908E-5" "01695" "ABCA4_000392" "g.94473278del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94007722del" "" "pathogenic (recessive)" ""
"0000957246" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000957247" "0" "90" "1" "94487399" "94487399" "subst" "7.30959E-5" "01695" "ABCA4_000038" "g.94487399T>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94021843T>C" "" "pathogenic (recessive)" ""
"0000957248" "0" "50" "1" "94564462" "94564462" "subst" "4.06775E-5" "01695" "ABCA4_000380" "g.94564462C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94098906C>G" "" "VUS" ""
"0000957249" "0" "90" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94098928G>A" "" "pathogenic (recessive)" ""
"0000957250" "0" "90" "1" "94564489" "94564489" "del" "0" "01695" "ABCA4_002826" "g.94564489del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94098933del" "" "pathogenic (recessive)" ""
"0000957251" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000957252" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000957253" "0" "90" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94098928G>A" "" "pathogenic (recessive)" ""
"0000957254" "0" "90" "1" "94578618" "94578618" "subst" "0.000166918" "01695" "ABCA4_000252" "g.94578618C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94113062C>T" "" "pathogenic (recessive)" ""
"0000957255" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000957256" "0" "50" "1" "94473287" "94473287" "subst" "0.00293818" "01695" "ABCA4_000395" "g.94473287G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94007731G>A" "" "VUS" ""
"0000957257" "0" "50" "1" "94467454" "94467454" "subst" "0" "01695" "ABCA4_002771" "g.94467454G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94001898G>A" "" "VUS" ""
"0000957258" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000957259" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000957260" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000957261" "0" "90" "1" "94495009" "94495009" "del" "0" "01695" "ABCA4_000534" "g.94495009del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94029453del" "" "pathogenic (recessive)" ""
"0000957262" "0" "50" "1" "94487490" "94487490" "subst" "0.00122268" "01695" "ABCA4_000506" "g.94487490A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94021934A>G" "" "VUS" ""
"0000957263" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "01695" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" ""
"0000957264" "0" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic (recessive)" ""
"0000957265" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000957266" "0" "90" "1" "94548932" "94548932" "del" "4.06587E-6" "01695" "ABCA4_001022" "g.94548932del" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94083376del" "" "pathogenic (recessive)" ""
"0000957267" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000957268" "0" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic (recessive)" ""
"0000957269" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000957270" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000957271" "0" "90" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94005509G>A" "" "pathogenic (recessive)" ""
"0000957272" "0" "90" "1" "94474381" "94474381" "subst" "1.21849E-5" "01695" "ABCA4_000410" "g.94474381C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008825C>T" "" "pathogenic (recessive)" ""
"0000957273" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000957274" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000957275" "0" "70" "1" "94466624" "94466624" "subst" "0.0014345" "01695" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94001068C>T" "" "likely pathogenic (recessive)" ""
"0000957276" "0" "90" "1" "94471065" "94471065" "subst" "0.000194997" "01695" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94005509G>A" "" "pathogenic (recessive)" ""
"0000957277" "0" "90" "1" "94586554" "94586560" "delins" "0" "01695" "ABCA4_002248" "g.94586554_94586560delinsCT" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94120998_94121004delinsCT" "" "pathogenic (recessive)" ""
"0000957278" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000957279" "0" "90" "1" "94471055" "94471055" "subst" "0.00035346" "01695" "ABCA4_000029" "g.94471055C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94005499C>T" "" "pathogenic (recessive)" ""
"0000957280" "0" "90" "1" "94510248" "94510248" "subst" "0.000544123" "01695" "ABCA4_000107" "g.94510248C>G" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94044692C>G" "" "pathogenic (recessive)" ""
"0000957281" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000957282" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000957283" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000957284" "0" "90" "1" "94564484" "94564484" "subst" "0.000110199" "01695" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94098928G>A" "" "pathogenic (recessive)" ""
"0000957285" "0" "90" "1" "94508435" "94508436" "dup" "0" "01695" "ABCA4_000998" "g.94508435_94508436dup" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94042879_94042880dup" "" "pathogenic (recessive)" ""
"0000957286" "0" "50" "1" "94485257" "94485257" "subst" "0.00017945" "01695" "ABCA4_000100" "g.94485257C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94019701C>T" "" "VUS" ""
"0000957287" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000957288" "0" "50" "1" "94564428" "94564428" "subst" "0" "01695" "ABCA4_002825" "g.94564428G>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94098872G>C" "" "VUS" ""
"0000957289" "0" "50" "1" "94526289" "94526289" "subst" "0.000417202" "01695" "ABCA4_000767" "g.94526289A>C" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94060733A>C" "" "VUS" ""
"0000957290" "0" "90" "1" "94526230" "94526230" "subst" "7.32136E-5" "01695" "ABCA4_000760" "g.94526230C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94060674C>T" "" "pathogenic (recessive)" ""
"0000957291" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000957292" "0" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic (recessive)" ""
"0000957293" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000957294" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000957295" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000957296" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000957297" "0" "90" "1" "94463488" "94463488" "subst" "5.2803E-5" "01695" "ABCA4_000802" "g.94463488G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.93997932G>A" "" "pathogenic (recessive)" ""
"0000957298" "0" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic (recessive)" ""
"0000957299" "0" "90" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94010795C>T" "" "pathogenic (recessive)" ""
"0000957300" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000957301" "0" "70" "1" "94508969" "94508969" "subst" "0.00168642" "01695" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94043413G>A" "" "likely pathogenic (recessive)" ""
"0000957302" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000957303" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "01695" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic (recessive)" ""
"0000957304" "0" "90" "1" "94495071" "94495071" "subst" "6.39479E-5" "01695" "ABCA4_000997" "g.94495071C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94029515C>T" "" "pathogenic (recessive)" ""
"0000957305" "0" "90" "1" "94486791" "94486791" "subst" "0" "01695" "ABCA4_001253" "g.94486791C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94021235C>T" "" "pathogenic (recessive)" ""
"0000957306" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "01695" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94010911T>A" "" "VUS" ""
"0000957307" "0" "90" "1" "94471055" "94471055" "subst" "0.00035346" "01695" "ABCA4_000029" "g.94471055C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94005499C>T" "" "pathogenic (recessive)" ""
"0000957308" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "01695" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic (recessive)" ""
"0000957309" "0" "90" "1" "94476351" "94476351" "subst" "0.000296608" "01695" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Cornelis 2024:38602673}, {DOI:Cornelis 2024:10.1001/jamaophthalmol.2024.0660}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.94010795C>T" "" "pathogenic (recessive)" ""
"0000958029" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "00006" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PP2, PP5_STRONG, PS4_MODERATE" "Germline" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" "ACMG"
"0000958109" "0" "90" "1" "94484001" "94484001" "subst" "0" "00006" "ABCA4_000016" "g.94484001C>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PP5_STRONG, BP7, PS4_MODERATE" "Germline" "" "" "0" "" "" "g.94018445C>T" "" "pathogenic (recessive)" "ACMG"
"0000958110" "0" "90" "1" "94528806" "94528806" "subst" "0.000150298" "00006" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PP2, PP5_STRONG, PS4_MODERATE; variant not transmitted to son" "Germline" "" "" "0" "" "" "g.94063250A>G" "7901" "pathogenic (recessive)" "ACMG"
"0000958111" "0" "90" "1" "94495083" "94495083" "subst" "0.000124542" "00006" "ABCA4_000542" "g.94495083G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PM1_SUPPORTING, PP2, PP5_STRONG" "Germline" "" "" "0" "" "" "g.94029527G>A" "99283" "pathogenic (recessive)" "ACMG"
"0000958116" "0" "90" "1" "94496571" "94496571" "subst" "4.06174E-6" "00006" "ABCA4_000111" "g.94496571G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1, PP5" "Germline" "" "" "0" "" "" "g.94031015G>A" "" "pathogenic (recessive)" "ACMG"
"0000958119" "0" "90" "1" "94526265" "94526265" "subst" "0" "00006" "ABCA4_000143" "g.94526265C>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1, PP5" "Germline" "" "" "0" "" "" "g.94060709C>T" "372289" "pathogenic (recessive)" "ACMG"
"0000958139" "0" "90" "1" "94495078" "94495078" "subst" "8.37044E-6" "00006" "ABCA4_000042" "g.94495078A>G" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PM5, PM1_SUPPORTING, PP2, PP5_STRONG" "Germline" "" "" "0" "" "" "g.94029522A>G" "99284" "pathogenic (recessive)" "ACMG"
"0000958146" "0" "90" "1" "94490606" "94490606" "subst" "4.06091E-6" "00006" "ABCA4_000086" "g.94490606T>C" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1, PP5" "Germline" "" "" "0" "" "" "g.94025050T>C" "92869" "pathogenic (recessive)" "ACMG"
"0000958147" "0" "90" "1" "94490606" "94490606" "subst" "4.06091E-6" "00006" "ABCA4_000086" "g.94490606T>C" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1, PP5" "Germline" "" "" "0" "" "" "g.94025050T>C" "92869" "pathogenic (recessive)" "ACMG"
"0000958148" "0" "90" "1" "94496666" "94496666" "subst" "0.000219568" "00006" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PM1_SUPPORTING, PP2, PP5_STRONG, PS4_MODERATE" "Germline" "" "" "0" "" "" "g.94031110G>A" "7904" "pathogenic (recessive)" "ACMG"
"0000958152" "0" "90" "1" "94546047" "94546047" "subst" "0" "00006" "ABCA4_000150" "g.94546047A>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1, PP5" "Germline" "" "" "0" "" "" "g.94080491A>T" "236078" "pathogenic (recessive)" "ACMG"
"0000958154" "3" "90" "1" "94486967" "94486967" "subst" "0" "00006" "ABCA4_001250" "g.94486967T>C" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1, PP5" "Germline" "" "" "0" "" "" "g.94021411T>C" "986969" "pathogenic (recessive)" "ACMG"
"0000958155" "0" "90" "1" "94528806" "94528806" "subst" "0.000150298" "00006" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PP2, PP5_STRONG, PS4_MODERATE" "Germline" "" "" "0" "" "" "g.94063250A>G" "7901" "pathogenic (recessive)" "ACMG"
"0000958157" "3" "90" "1" "94568687" "94568687" "subst" "1.62641E-5" "00006" "ABCA4_000024" "g.94568687G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1, PP5" "Germline" "" "" "0" "" "" "g.94103131G>A" "" "pathogenic (recessive)" "ACMG"
"0000958159" "3" "90" "1" "94473278" "94473278" "del" "3.25908E-5" "00006" "ABCA4_000392" "g.94473278del" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1, PP5, PS4" "Germline" "" "" "0" "" "" "g.94007722del" "99419" "pathogenic (recessive)" "ACMG"
"0000958160" "3" "70" "1" "94463399" "94463413" "del" "0" "00006" "ABCA4_000851" "g.94463399_94463413del" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PP5_STRONG, PS4_MODERATE" "Germline" "" "" "0" "" "" "g.93997843_93997857del" "" "likely pathogenic (recessive)" "ACMG"
"0000958163" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "00006" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PM5, PM1, PP2, PP5_STRONG, PS4_MODERATE" "Germline" "" "" "0" "" "" "g.94062710G>A" "" "pathogenic (recessive)" "ACMG"
"0000958168" "0" "90" "1" "94577082" "94577082" "subst" "2.84315E-5" "00006" "ABCA4_000232" "g.94577082C>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PM1, PP2, PP5_STRONG" "Germline" "" "" "0" "" "" "g.94111526C>T" "" "pathogenic (recessive)" "ACMG"
"0000958170" "0" "90" "1" "94510271" "94510271" "subst" "0" "00006" "ABCA4_000670" "g.94510271G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PM5, PM1, PP2, PP5_STRONG" "Germline" "" "" "0" "" "" "g.94044715G>A" "" "pathogenic (recessive)" "ACMG"
"0000958171" "0" "90" "1" "94526212" "94526212" "subst" "1.22012E-5" "00006" "ABCA4_000075" "g.94526212G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1, PP5" "Germline" "" "" "0" "" "" "g.94060656G>A" "99114" "pathogenic (recessive)" "ACMG"
"0000958174" "21" "90" "1" "94496083" "94496083" "subst" "0" "00006" "ABCA4_001835" "g.94496083C>G" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1_STRONG, PP5_STRONG" "Germline" "" "" "0" "" "" "g.94030527C>G" "236111" "pathogenic (recessive)" "ACMG"
"0000958175" "0" "90" "1" "94528806" "94528806" "subst" "0.000150298" "00006" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PP2, PP5_STRONG, PS4_MODERATE" "Germline" "" "" "0" "" "" "g.94063250A>G" "7901" "pathogenic (recessive)" "ACMG"
"0000958176" "0" "90" "1" "94495083" "94495083" "subst" "0.000124542" "00006" "ABCA4_000542" "g.94495083G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PM1_SUPPORTING, PP2, PP5_STRONG" "Germline" "" "" "0" "" "" "g.94029527G>A" "" "pathogenic (recessive)" "ACMG"
"0000958177" "0" "90" "1" "94528806" "94528806" "subst" "0.000150298" "00006" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PP2, PP5_STRONG, PS4_MODERATE" "Germline" "" "" "0" "" "" "g.94063250A>G" "7901" "pathogenic (recessive)" "ACMG"
"0000958179" "3" "90" "1" "94528806" "94528806" "subst" "0.000150298" "00006" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PP2, PP5_STRONG, PS4_MODERATE" "Germline" "" "" "0" "" "" "g.94063250A>G" "7901" "pathogenic (recessive)" "ACMG"
"0000958180" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "00006" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PP2, PP5_STRONG, PS4_MODERATE" "Germline" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" "ACMG"
"0000958181" "11" "90" "1" "94528806" "94528806" "subst" "0.000150298" "00006" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PP2, PP5_STRONG, PS4_MODERATE" "Germline" "" "" "0" "" "" "g.94063250A>G" "7901" "pathogenic (recessive)" "ACMG"
"0000958185" "0" "90" "1" "94578624" "94578624" "subst" "4.07408E-6" "00006" "ABCA4_001055" "g.94578624T>C" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1, PP5" "Germline" "" "" "0" "" "" "g.94113068T>C" "92871" "pathogenic (recessive)" "ACMG"
"0000958201" "0" "90" "1" "94544877" "94544877" "subst" "4.06124E-6" "00006" "ABCA4_000326" "g.94544877C>G" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1, PP5" "Germline" "" "" "0" "" "" "g.94079321C>G" "" "pathogenic (recessive)" "ACMG"
"0000958215" "0" "90" "1" "94512565" "94512565" "del" "0" "00006" "ABCA4_000692" "g.94512565del" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1, PP5" "Germline" "" "" "0" "" "" "g.94047009del" "" "pathogenic (recessive)" "ACMG"
"0000958216" "0" "90" "1" "94528132" "94528132" "subst" "4.06835E-6" "00006" "ABCA4_000773" "g.94528132C>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1_STRONG, PP5_STRONG" "Germline" "" "" "0" "" "" "g.94062576C>T" "" "pathogenic (recessive)" "ACMG"
"0000958217" "3" "90" "1" "94508358" "94508358" "subst" "4.06167E-6" "00006" "ABCA4_000636" "g.94508358G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PM1, PP2, PP5_STRONG" "Germline" "" "" "0" "" "" "g.94042802G>A" "1184970" "pathogenic (recessive)" "ACMG"
"0000958218" "11" "90" "1" "94476951" "94476951" "subst" "0.000236097" "00006" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PP5_STRONG, BP4, PS4_MODERATE" "Germline" "" "" "0" "" "" "g.94011395A>G" "1048134" "pathogenic (recessive)" "ACMG"
"0000958223" "21" "90" "1" "94473807" "94473807" "subst" "0.00480453" "00006" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PM5, PP2, PP5_STRONG, PS4_MODERATE" "Germline" "" "" "0" "" "" "g.94008251C>T" "635154" "pathogenic (recessive)" "ACMG"
"0000958226" "0" "90" "1" "94526296" "94526296" "subst" "1.64555E-5" "00006" "ABCA4_000768" "g.94526296G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PM5, PM1, PP2, PP5_STRONG" "Germline" "" "" "0" "" "" "g.94060740G>A" "" "pathogenic (recessive)" "ACMG"
"0000958228" "0" "90" "1" "94528806" "94528806" "subst" "0.000150298" "00006" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PP2, PP5_STRONG, PS4_MODERATE" "Germline" "" "" "0" "" "" "g.94063250A>G" "7901" "pathogenic (recessive)" "ACMG"
"0000958231" "0" "90" "1" "94586557" "94586557" "subst" "4.06134E-6" "00006" "ABCA4_000259" "g.94586557C>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1, PP5" "Germline" "" "" "0" "" "" "g.94121001C>T" "" "pathogenic (recessive)" "ACMG"
"0000958236" "0" "90" "1" "94495009" "94495009" "dup" "0" "00006" "ABCA4_000087" "g.94495009dup" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1, PP5, PS4_MODERATE" "Germline" "" "" "0" "" "" "g.94029453dup" "" "pathogenic (recessive)" "ACMG"
"0000958246" "0" "90" "1" "94528806" "94528806" "subst" "0.000150298" "00006" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PP2, PP5_STRONG, PS4_MODERATE" "Germline" "" "" "0" "" "" "g.94063250A>G" "7901" "pathogenic (recessive)" "ACMG"
"0000958248" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "00006" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PM5, PP2, PP5_STRONG, PS4_MODERATE" "Germline" "" "" "0" "" "" "g.94008251C>T" "635154" "pathogenic (recessive)" "ACMG"
"0000958254" "0" "70" "1" "94543268" "94543268" "subst" "0.000778106" "00006" "ABCA4_000306" "g.94543268C>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PS1_MODERATE, PM5, PP2, PP5, BP6, PS4_MODERATE" "Germline" "" "" "0" "" "" "g.94077712C>T" "" "likely pathogenic (recessive)" "ACMG"
"0000958344" "0" "90" "1" "94495071" "94495071" "subst" "6.39479E-5" "00006" "ABCA4_000997" "g.94495071C>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PM5, PP2, PP5_STRONG, PS4_MODERATE" "Germline" "" "" "0" "" "" "g.94029515C>T" "99288" "pathogenic (recessive)" "ACMG"
"0000958348" "0" "90" "1" "94528806" "94528806" "subst" "0.000150298" "00006" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PP2, PP5_STRONG, PS4_MODERATE" "Germline" "" "" "0" "" "" "g.94063250A>G" "7901" "pathogenic (recessive)" "ACMG"
"0000958357" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "00006" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PP2, PP5_STRONG, PS4_MODERATE" "Germline" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" "ACMG"
"0000958367" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "00006" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP2, PP5, BA1, BS2" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000958398" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "00006" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PM5, PP2, PP5_STRONG, PS4_MODERATE" "Germline" "" "" "0" "" "" "g.94008251C>T" "635154" "pathogenic (recessive)" "ACMG"
"0000958400" "0" "50" "1" "94568627" "94568627" "subst" "0.000422314" "00006" "ABCA4_000207" "g.94568627C>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2" "Germline" "" "" "0" "" "" "g.94103071C>T" "" "VUS" "ACMG"
"0000958401" "0" "50" "1" "94564442" "94564442" "subst" "6.90894E-5" "00006" "ABCA4_002313" "g.94564442G>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2" "Germline" "" "" "0" "" "" "g.94098886G>T" "" "VUS" "ACMG"
"0000958402" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "00006" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP2, PP5, BA1, BS2" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000958415" "0" "50" "1" "94528142" "94528142" "subst" "0.00153303" "00006" "ABCA4_000125" "g.94528142A>C" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM5_SUPPORTING, PP2, PP5" "Germline" "" "" "0" "" "" "g.94062586A>C" "" "VUS" "ACMG"
"0000958420" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "00006" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PP2, PP5_STRONG, PS4_MODERATE" "Germline" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" "ACMG"
"0000958427" "3" "50" "1" "94476467" "94476467" "subst" "0.0424562" "00006" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP2, PP5, BA1, BS2" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000958479" "0" "70" "1" "94481296" "94481296" "subst" "4.07329E-6" "00006" "ABCA4_001532" "g.94481296C>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PM1_SUPPORTING, PP2, PP5" "Germline" "" "" "0" "" "" "g.94015740C>T" "" "likely pathogenic (recessive)" "ACMG"
"0000958480" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "00006" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PM1_SUPPORTING, PP2, PP5_STRONG, PS4_MODERATE; variant not transmitted to son" "Germline" "" "" "0" "" "" "g.94043413G>A" "7901" "pathogenic (recessive)" "ACMG"
"0000958481" "0" "70" "1" "94496568" "94496568" "subst" "0" "00006" "ABCA4_002837" "g.94496568G>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PM1_SUPPORTING, PP2, PM3; variant submitted to son" "Germline" "" "" "0" "" "" "g.94031012G>T" "" "likely pathogenic (recessive)" "ACMG"
"0000958482" "0" "90" "1" "94485159" "94485159" "dup" "0" "00006" "ABCA4_001453" "g.94485159dup" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1, PP5" "Germline" "" "" "0" "" "" "g.94019603dup" "" "pathogenic (recessive)" "ACMG"
"0000958483" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "00006" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP2, PP5, BA1, BS2" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000958487" "0" "70" "1" "94496509" "94496509" "subst" "0.00475243" "00006" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PP5_STRONG, BP7" "Germline" "" "" "0" "" "" "g.94030953C>T" "" "likely pathogenic (recessive)" "ACMG"
"0000958488" "0" "90" "1" "94486896" "94486896" "subst" "3.65562E-5" "00006" "ABCA4_000085" "g.94486896G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PS1_MODERATE, PP3, PM2, PM5, PM1_SUPPORTING, PP2, PP5_STRONG" "Germline" "" "" "0" "" "" "g.94021340G>A" "" "pathogenic (recessive)" "ACMG"
"0000958492" "0" "90" "1" "94473278" "94473278" "del" "3.25908E-5" "00006" "ABCA4_000392" "g.94473278del" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1, PP5, PS4" "Germline" "" "" "0" "" "" "g.94007722del" "" "pathogenic (recessive)" "ACMG"
"0000958495" "0" "90" "1" "94467467" "94467467" "subst" "4.06164E-6" "00006" "ABCA4_000780" "g.94467467G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PM5, PM1, PP2, PP5_STRONG, PS4_MODERATE" "Germline" "" "" "0" "" "" "g.94001911G>A" "99438" "pathogenic (recessive)" "ACMG"
"0000958496" "0" "90" "1" "94467467" "94467467" "subst" "4.06164E-6" "00006" "ABCA4_000780" "g.94467467G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PM5, PM1, PP2, PP5_STRONG, PS4_MODERATE" "Germline" "" "" "0" "" "" "g.94001911G>A" "99438" "pathogenic (recessive)" "ACMG"
"0000958497" "0" "90" "1" "94485137" "94485137" "subst" "0" "00006" "ABCA4_000464" "g.94485137C>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1, PP5" "Germline" "" "" "0" "" "" "g.94019581C>T" "" "pathogenic (recessive)" "ACMG"
"0000958499" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "00006" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PM5, PP2, PP5_STRONG, PS4_MODERATE" "Germline" "" "" "0" "" "" "g.94008251C>T" "635154" "pathogenic (recessive)" "ACMG"
"0000958500" "0" "90" "1" "94506923" "94506923" "subst" "2.43657E-5" "00006" "ABCA4_000012" "g.94506923C>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PM1, PP2, PP5_STRONG, PS4_MODERATE" "Germline" "" "" "0" "" "" "g.94041367C>T" "" "pathogenic (recessive)" "ACMG"
"0000958501" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "00006" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP2, PP5, BA1, BS2" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000958503" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "00006" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PM1_SUPPORTING, PP2, PP5_STRONG, PS4_MODERATE" "Germline" "" "" "0" "" "" "g.94043413G>A" "7901" "pathogenic (recessive)" "ACMG"
"0000958504" "0" "90" "1" "94471056" "94471056" "subst" "2.84398E-5" "00006" "ABCA4_000050" "g.94471056G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1, PP5, PS4" "Germline" "" "" "0" "" "" "g.94005500G>A" "7907" "pathogenic (recessive)" "ACMG"
"0000958508" "0" "90" "1" "94486888" "94486888" "subst" "3.65548E-5" "00006" "ABCA4_000137" "g.94486888G>C" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PS1, PM2, PM1_SUPPORTING, PP2, PP5_STRONG" "Germline" "" "" "0" "" "" "g.94021332G>C" "99332" "pathogenic (recessive)" "ACMG"
"0000958509" "0" "90" "1" "94485279" "94485293" "del" "0" "00006" "ABCA4_000476" "g.94485279_94485293del" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PM4, PM1, PP5_STRONG" "Germline" "" "" "0" "" "" "g.94019723_94019737del" "" "pathogenic (recessive)" "ACMG"
"0000958510" "0" "90" "1" "94466422" "94466422" "subst" "2.43651E-5" "00006" "ABCA4_000817" "g.94466422C>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PM5_SUPPORTING, PM1, PP2, PP5_STRONG, PS4_MODERATE" "Germline" "" "" "0" "" "" "g.94000866C>T" "" "pathogenic (recessive)" "ACMG"
"0000958512" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "00006" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP2, PP5, BA1, BS2" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000958513" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "00006" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PM5, PP2, PP5_STRONG, PS4_MODERATE" "Germline" "" "" "0" "" "" "g.94008251C>T" "635154" "pathogenic (recessive)" "ACMG"
"0000958514" "0" "90" "1" "94467467" "94467467" "subst" "4.06164E-6" "00006" "ABCA4_000780" "g.94467467G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PM5, PM1, PP2, PP5_STRONG, PS4_MODERATE" "Germline" "" "" "0" "" "" "g.94001911G>A" "" "pathogenic (recessive)" "ACMG"
"0000958517" "11" "90" "1" "94467467" "94467467" "subst" "4.06164E-6" "00006" "ABCA4_000780" "g.94467467G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PM5, PM1, PP2, PP5_STRONG, PS4_MODERATE" "Germline" "" "" "0" "" "" "g.94001911G>A" "" "pathogenic (recessive)" "ACMG"
"0000958518" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "00006" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PM1_SUPPORTING, PP2, PP5_STRONG, PS4_MODERATE" "Germline" "" "" "0" "" "" "g.94043413G>A" "7901" "pathogenic (recessive)" "ACMG"
"0000958519" "0" "90" "1" "94495071" "94495071" "subst" "6.39479E-5" "00006" "ABCA4_000997" "g.94495071C>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PM5, PP2, PP5_STRONG, PS4_MODERATE" "Germline" "" "" "0" "" "" "g.94029515C>T" "99288" "pathogenic (recessive)" "ACMG"
"0000958520" "0" "90" "1" "94473278" "94473278" "del" "3.25908E-5" "00006" "ABCA4_000392" "g.94473278del" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1, PP5, PS4" "Germline" "" "" "0" "" "" "g.94007722del" "" "pathogenic (recessive)" "ACMG"
"0000958521" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "00006" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PM1_SUPPORTING, PP2, PP5_STRONG, PS4_MODERATE" "Germline" "" "" "0" "" "" "g.94043413G>A" "7901" "pathogenic (recessive)" "ACMG"
"0000958522" "0" "90" "1" "94496571" "94496571" "subst" "4.06174E-6" "00006" "ABCA4_000111" "g.94496571G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1, PP5" "Germline" "" "" "0" "" "" "g.94031015G>A" "99263" "pathogenic (recessive)" "ACMG"
"0000958524" "0" "50" "1" "94476411" "94476411" "subst" "3.65548E-5" "00006" "ABCA4_002834" "g.94476411C>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PM1, PP2" "Germline" "" "" "0" "" "" "g.94010855C>T" "" "VUS" "ACMG"
"0000958525" "0" "50" "1" "94564451" "94564451" "subst" "0.000150413" "00006" "ABCA4_000378" "g.94564451T>G" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PP2, BP6" "Germline" "" "" "0" "" "" "g.94098895T>G" "" "VUS" "ACMG"
"0000958526" "0" "50" "1" "94549781" "94549781" "subst" "0" "00006" "ABCA4_001046" "g.94549781G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG BP7" "Germline" "" "" "0" "" "" "g.94084225G>A" "" "VUS" "ACMG"
"0000958527" "3" "90" "1" "94508969" "94508969" "subst" "0.00168642" "00006" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PM1_SUPPORTING, PP2, PP5_STRONG, PS4_MODERATE" "Germline" "" "" "0" "" "" "g.94043413G>A" "7901" "pathogenic (recessive)" "ACMG"
"0000958529" "0" "90" "1" "94476351" "94476351" "subst" "0.000296608" "00006" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PP5_STRONG, PS4_MODERATE" "Germline" "" "" "0" "" "" "g.94010795C>T" "" "pathogenic (recessive)" "ACMG"
"0000958530" "0" "70" "1" "94507682" "94511705" "del" "0" "00006" "ABCA4_001916" "g.94507682_94511705del" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1" "Germline" "" "" "0" "" "" "g.94042126_94046149del" "" "likely pathogenic (recessive)" "ACMG"
"0000958533" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "00006" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PP5_STRONG, PS4_MODERATE" "Germline" "" "" "0" "" "" "g.94098794C>A" "99505" "pathogenic (recessive)" "ACMG"
"0000958534" "0" "50" "1" "94549781" "94549781" "subst" "0" "00006" "ABCA4_001046" "g.94549781G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG BP7" "Germline" "" "" "0" "" "" "g.94084225G>A" "" "VUS" "ACMG"
"0000958548" "0" "90" "1" "94546148" "94546148" "subst" "0" "00006" "ABCA4_001265" "g.94546148C>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1, PP5" "Germline" "" "" "0" "" "" "g.94080592C>A" "" "pathogenic (recessive)" "ACMG"
"0000958555" "0" "70" "1" "94480208" "94480208" "subst" "8.12275E-6" "00006" "ABCA4_001013" "g.94480208A>C" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PM1, PP2, PP5" "Germline" "" "" "0" "" "" "g.94014652A>C" "" "likely pathogenic (recessive)" "ACMG"
"0000958556" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "00006" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP2, PP5, BA1, BS2" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000958558" "11" "50" "1" "94476467" "94476467" "subst" "0.0424562" "00006" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP2, PP5, BA1, BS2" "Germline" "" "" "0" "" "" "g.94010911T>A" "1048134" "VUS" "ACMG"
"0000958559" "21" "90" "1" "94473807" "94473807" "subst" "0.00480453" "00006" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PM5, PP2, PP5_STRONG, PS4_MODERATE" "Germline" "" "" "0" "" "" "g.94008251C>T" "635154" "pathogenic (recessive)" "ACMG"
"0000958561" "0" "70" "1" "94466446" "94466448" "del" "0" "00006" "ABCA4_002833" "g.94466446_94466448del" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PM4, PM1; father negative for variant" "Germline" "" "" "0" "" "" "g.94000890_94000892del" "" "likely pathogenic (recessive)" "ACMG"
"0000958562" "21" "50" "1" "94502756" "94502756" "subst" "0.000422575" "00006" "ABCA4_000032" "g.94502756G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PP2, BP6" "Germline" "" "" "0" "" "" "g.94037200G>A" "" "VUS" "ACMG"
"0000958563" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "00006" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP2, PP5, BA1, BS2" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000958564" "0" "50" "1" "94544234" "94544235" "inv" "0" "00006" "ABCA4_002844" "g.94544234_94544235inv" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PP2" "Germline" "" "" "0" "" "" "g.94078678_94078679inv" "" "VUS" "ACMG"
"0000958565" "0" "90" "1" "94476351" "94476351" "subst" "0.000296608" "00006" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PP5_STRONG, PS4_MODERATE" "Germline" "" "" "0" "" "" "g.94010795C>T" "" "pathogenic (recessive)" "ACMG"
"0000958566" "0" "70" "1" "94496509" "94496509" "subst" "0.00475243" "00006" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PP5_STRONG, BP7" "Germline" "" "" "0" "" "" "g.94030953C>T" "" "likely pathogenic (recessive)" "ACMG"
"0000958567" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "00006" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PM1_SUPPORTING, PP2, PP5_STRONG, PS4_MODERATE" "Germline" "" "" "0" "" "" "g.94043413G>A" "7901" "pathogenic (recessive)" "ACMG"
"0000958568" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "00006" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PM5, PP2, PP5_STRONG, PS4_MODERATE" "Germline" "" "" "0" "" "" "g.94008251C>T" "635154" "pathogenic (recessive)" "ACMG"
"0000958571" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "00006" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP2, PP5, BA1, BS2" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000958574" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "00006" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PM5, PP2, PP5_STRONG, PS4_MODERATE" "Germline" "" "" "0" "" "" "g.94008251C>T" "635154" "pathogenic (recessive)" "ACMG"
"0000958578" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "00006" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PM1_SUPPORTING, PP2, PP5_STRONG, PS4_MODERATE" "Germline" "" "" "0" "" "" "g.94043413G>A" "7901" "pathogenic (recessive)" "ACMG"
"0000958579" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "00006" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP2, PP5, BA1, BS2" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000958580" "0" "90" "1" "94471056" "94471056" "subst" "2.84398E-5" "00006" "ABCA4_000050" "g.94471056G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1, PP5, PS4" "Germline" "" "" "0" "" "" "g.94005500G>A" "" "pathogenic (recessive)" "ACMG"
"0000958581" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "00006" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PP2, PP5_STRONG, PS4_MODERATE" "Germline" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" "ACMG"
"0000958582" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "00006" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP2, PP5, BA1, BS2" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000958584" "0" "50" "1" "94549781" "94549781" "subst" "0" "00006" "ABCA4_001046" "g.94549781G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG BP7" "Germline" "" "" "0" "" "" "g.94084225G>A" "" "VUS" "ACMG"
"0000958630" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "00006" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PP5_STRONG, BP4, PS4_MODERATE" "Germline" "" "" "0" "" "" "g.94011395A>G" "1048134" "pathogenic (recessive)" "ACMG"
"0000958631" "3" "50" "1" "94476467" "94476467" "subst" "0.0424562" "00006" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP2, PP5, BA1, BS2" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000958634" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "00006" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PM1_SUPPORTING, PP2, PP5_STRONG, PS4_MODERATE" "Germline" "" "" "0" "" "" "g.94043413G>A" "7901" "pathogenic (recessive)" "ACMG"
"0000958635" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "00006" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PP5_STRONG, BP4, PS4_MODERATE" "Germline" "" "" "0" "" "" "g.94011395A>G" "1048134" "pathogenic (recessive)" "ACMG"
"0000958636" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "00006" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP2, PP5, BA1, BS2" "Germline" "" "" "0" "" "" "g.94010911T>A" "1048134" "VUS" "ACMG"
"0000958640" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "00006" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP2, PP5, BA1, BS2" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000958654" "0" "90" "1" "94476351" "94476351" "subst" "0.000296608" "00006" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PP5_STRONG, PS4_MODERATE" "Germline" "" "" "0" "" "" "g.94010795C>T" "" "pathogenic (recessive)" "ACMG"
"0000958655" "0" "50" "1" "94526148" "94526148" "subst" "0" "00006" "ABCA4_002054" "g.94526148A>G" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PP2" "Germline" "" "" "0" "" "" "g.94060592A>G" "" "VUS" "ACMG"
"0000958671" "0" "90" "1" "94476351" "94476351" "subst" "0.000296608" "00006" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PP5_STRONG, PS4_MODERATE" "Germline" "" "" "0" "" "" "g.94010795C>T" "" "pathogenic (recessive)" "ACMG"
"0000958675" "0" "90" "1" "94476351" "94476351" "subst" "0.000296608" "00006" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PP5_STRONG, PS4_MODERATE" "Germline" "" "" "0" "" "" "g.94010795C>T" "1048131" "pathogenic (recessive)" "ACMG"
"0000958676" "11" "90" "1" "94528806" "94528806" "subst" "0.000150298" "00006" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PP2, PP5_STRONG, PS4_MODERATE" "Germline" "" "" "0" "" "" "g.94063250A>G" "7901" "pathogenic (recessive)" "ACMG"
"0000958678" "0" "90" "1" "94577001" "94577001" "dup" "0" "00006" "ABCA4_000179" "g.94577001dup" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1, PP5" "Germline" "" "" "0" "" "" "g.94111445dup" "" "pathogenic (recessive)" "ACMG"
"0000958679" "0" "90" "1" "94496666" "94496666" "subst" "0.000219568" "00006" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PM1_SUPPORTING, PP2, PP5_STRONG, PS4_MODERATE" "Germline" "" "" "0" "" "" "g.94031110G>A" "" "pathogenic (recessive)" "ACMG"
"0000958680" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "00006" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PP2, PP5_STRONG, PS4_MODERATE" "Germline" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" "ACMG"
"0000958681" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "00006" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PP2, PP5_STRONG, PS4_MODERATE" "Germline" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" "ACMG"
"0000958682" "3" "70" "1" "94466417" "94466417" "subst" "0" "00006" "ABCA4_001200" "g.94466417C>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PM1, PP2, PP5" "Germline" "" "" "0" "" "" "g.94000861C>A" "" "likely pathogenic (recessive)" "ACMG"
"0000958683" "3" "90" "1" "94476890" "94476890" "subst" "4.06227E-6" "00006" "ABCA4_000434" "g.94476890G>C" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PM5, PM1, PP2, PP5_STRONG" "Germline" "" "" "0" "" "" "g.94011334G>C" "" "pathogenic (recessive)" "ACMG"
"0000958684" "0" "90" "1" "94528806" "94528806" "subst" "0.000150298" "00006" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PP2, PP5_STRONG, PS4_MODERATE" "Germline" "" "" "0" "" "" "g.94063250A>G" "7901" "pathogenic (recessive)" "ACMG"
"0000958685" "0" "90" "1" "94528806" "94528806" "subst" "0.000150298" "00006" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PP2, PP5_STRONG, PS4_MODERATE" "Germline" "" "" "0" "" "" "g.94063250A>G" "7901" "pathogenic (recessive)" "ACMG"
"0000958686" "0" "70" "1" "94496509" "94496509" "subst" "0.00475243" "00006" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PP5_STRONG, BP7" "Germline" "" "" "0" "" "" "g.94030953C>T" "" "likely pathogenic (recessive)" "ACMG"
"0000958688" "0" "90" "1" "94528248" "94528248" "subst" "1.22148E-5" "00006" "ABCA4_000279" "g.94528248A>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PM1, PP2, PP5_STRONG" "Germline" "" "" "0" "" "" "g.94062692A>T" "" "pathogenic (recessive)" "ACMG"
"0000958689" "0" "90" "1" "94495078" "94495078" "subst" "8.37044E-6" "00006" "ABCA4_000042" "g.94495078A>G" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PM5, PM1_SUPPORTING, PP2, PP5_STRONG" "Germline" "" "" "0" "" "" "g.94029522A>G" "" "pathogenic (recessive)" "ACMG"
"0000958690" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "00006" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PM1_SUPPORTING, PP2, PP5_STRONG, PS4_MODERATE" "Germline" "" "" "0" "" "" "g.94043413G>A" "7901" "pathogenic (recessive)" "ACMG"
"0000958691" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "00006" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP2, PP5, BA1, BS2" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000958692" "0" "90" "1" "94528806" "94528806" "subst" "0.000150298" "00006" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PP2, PP5_STRONG, PS4_MODERATE" "Germline" "" "" "0" "" "" "g.94063250A>G" "7901" "pathogenic (recessive)" "ACMG"
"0000958693" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "00006" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PP2, PP5_STRONG, PS4_MODERATE" "Germline" "" "" "0" "" "" "g.94051698C>G" "1048132" "pathogenic (recessive)" "ACMG"
"0000958694" "0" "90" "1" "94508384" "94508384" "subst" "0" "00006" "ABCA4_000641" "g.94508384T>G" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PM5, PM1, PP2, PP5_STRONG" "Germline" "" "" "0" "" "" "g.94042828T>G" "" "pathogenic (recessive)" "ACMG"
"0000958695" "21" "90" "1" "94476951" "94476951" "subst" "0.000236097" "00006" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PP5_STRONG, BP4, PS4_MODERATE" "Germline" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" "ACMG"
"0000958696" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "00006" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PP5_STRONG, BP4, PS4_MODERATE" "Germline" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" "ACMG"
"0000958697" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "00006" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PP5_STRONG, BP4, PS4_MODERATE" "Germline" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" "ACMG"
"0000958698" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "00006" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PP5_STRONG, PS4_MODERATE" "Germline" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" "ACMG"
"0000958699" "0" "90" "1" "94528806" "94528806" "subst" "0.000150298" "00006" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PP2, PP5_STRONG, PS4_MODERATE" "Germline" "" "" "0" "" "" "g.94063250A>G" "7901" "pathogenic (recessive)" "ACMG"
"0000958701" "0" "90" "1" "94486794" "94486794" "subst" "0" "00006" "ABCA4_000478" "g.94486794A>G" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1, PP5, PS4" "Germline" "" "" "0" "" "" "g.94021238A>G" "99338" "pathogenic (recessive)" "ACMG"
"0000958702" "0" "90" "1" "94526296" "94526296" "subst" "1.64555E-5" "00006" "ABCA4_000768" "g.94526296G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PM5, PM1, PP2, PP5_STRONG" "Germline" "" "" "0" "" "" "g.94060740G>A" "99108" "pathogenic (recessive)" "ACMG"
"0000958703" "0" "90" "1" "94528806" "94528806" "subst" "0.000150298" "00006" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PP2, PP5_STRONG, PS4_MODERATE" "Germline" "" "" "0" "" "" "g.94063250A>G" "7901" "pathogenic (recessive)" "ACMG"
"0000958704" "0" "90" "1" "94528806" "94528806" "subst" "0.000150298" "00006" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PP2, PP5_STRONG, PS4_MODERATE" "Germline" "" "" "0" "" "" "g.94063250A>G" "7901" "pathogenic (recessive)" "ACMG"
"0000958705" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "00006" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP2, PP5, BA1, BS2" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000958706" "0" "90" "1" "94526212" "94526212" "subst" "1.22012E-5" "00006" "ABCA4_000075" "g.94526212G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1, PP5" "Germline" "" "" "0" "" "" "g.94060656G>A" "" "pathogenic (recessive)" "ACMG"
"0000958707" "3" "90" "1" "94528780" "94528780" "subst" "4.06171E-6" "00006" "ABCA4_000299" "g.94528780C>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PP2, PP5_STRONG" "Germline" "" "" "0" "" "" "g.94063224C>T" "" "pathogenic (recessive)" "ACMG"
"0000958708" "21" "90" "1" "94473807" "94473807" "subst" "0.00480453" "00006" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PM5, PP2, PP5_STRONG, PS4_MODERATE" "Germline" "" "" "0" "" "" "g.94008251C>T" "635154" "pathogenic (recessive)" "ACMG"
"0000958709" "0" "90" "1" "94476428" "94476428" "subst" "7.71699E-5" "00006" "ABCA4_000422" "g.94476428G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PM5_SUPPORTING, PM1, PP2, PP5_STRONG" "Germline" "" "" "0" "" "" "g.94010872G>A" "853893" "pathogenic (recessive)" "ACMG"
"0000958710" "0" "90" "1" "94528236" "94528236" "subst" "0" "00006" "ABCA4_000276" "g.94528236G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1, PP5" "Germline" "" "" "0" "" "" "g.94062680G>A" "" "pathogenic (recessive)" "ACMG"
"0000958711" "1" "90" "1" "94487258" "94487258" "dup" "0" "00006" "ABCA4_001264" "g.94487258dup" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1, PP5; variant shared with sister" "Germline" "" "" "0" "" "" "g.94021702dup" "813138" "pathogenic (recessive)" "ACMG"
"0000958712" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "00006" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP2, PP5, BA1, BS2" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000958713" "21" "90" "1" "94564548" "94564548" "subst" "0" "00006" "ABCA4_000197" "g.94564548C>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1_STRONG, PP5_STRONG" "Germline" "" "" "0" "" "" "g.94098992C>A" "" "pathogenic (recessive)" "ACMG"
"0000958714" "0" "90" "1" "94528806" "94528806" "subst" "0.000150298" "00006" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PP2, PP5_STRONG, PS4_MODERATE" "Germline" "" "" "0" "" "" "g.94063250A>G" "7901" "pathogenic (recessive)" "ACMG"
"0000958715" "11" "90" "1" "94544249" "94544249" "subst" "8.12196E-6" "00006" "ABCA4_000323" "g.94544249A>G" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PP2, PP5_STRONG" "Germline" "" "" "0" "" "" "g.94078693A>G" "193580" "pathogenic (recessive)" "ACMG"
"0000958716" "3" "90" "1" "94512565" "94512565" "del" "0" "00006" "ABCA4_000692" "g.94512565del" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1, PP5" "Germline" "" "" "0" "" "" "g.94047009del" "987414" "pathogenic (recessive)" "ACMG"
"0000958717" "0" "90" "1" "94506874" "94506874" "subst" "0" "00006" "ABCA4_001900" "g.94506874A>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PM5_SUPPORTING, PM1, PP2, PP5_STRONG" "Germline" "" "" "0" "" "" "g.94041318A>T" "" "pathogenic (recessive)" "ACMG"
"0000958718" "0" "90" "1" "94502301" "94502304" "del" "0" "00006" "ABCA4_002838" "g.94502301_94502304del" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1, PP5" "Germline" "" "" "0" "" "" "g.94036745_94036748del" "" "pathogenic (recessive)" "ACMG"
"0000958719" "0" "70" "1" "94496509" "94496509" "subst" "0.00475243" "00006" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PP5_STRONG, BP7" "Germline" "" "" "0" "" "" "g.94030953C>T" "" "likely pathogenic (recessive)" "ACMG"
"0000958720" "0" "90" "1" "94485137" "94485137" "subst" "0" "00006" "ABCA4_000464" "g.94485137C>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1, PP5" "Germline" "" "" "0" "" "" "g.94019581C>T" "" "pathogenic (recessive)" "ACMG"
"0000958721" "0" "90" "1" "94586550" "94586550" "subst" "1.21864E-5" "00006" "ABCA4_000037" "g.94586550G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PM5, PP2, PP5_STRONG" "Germline" "" "" "0" "" "" "g.94120994G>A" "1048166" "pathogenic (recessive)" "ACMG"
"0000958722" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "00006" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PP2, PP5_STRONG, PS4_MODERATE" "Germline" "" "" "0" "" "" "g.94051698C>G" "1048132" "pathogenic (recessive)" "ACMG"
"0000958723" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "00006" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PM5, PP2, PP5_STRONG, PS4_MODERATE" "Germline" "" "" "0" "" "" "g.94008251C>T" "635154" "pathogenic (recessive)" "ACMG"
"0000958724" "0" "90" "1" "94578567" "94578567" "subst" "4.06204E-6" "00006" "ABCA4_000247" "g.94578567C>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1, PP5" "Germline" "" "" "0" "" "" "g.94113011C>T" "" "pathogenic (recessive)" "ACMG"
"0000958725" "3" "90" "1" "94480241" "94480241" "subst" "7.71705E-5" "00006" "ABCA4_000446" "g.94480241G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PM5, PM1, PP2, PP5_STRONG" "Germline" "" "" "0" "" "" "g.94014685G>A" "" "pathogenic (recessive)" "ACMG"
"0000958726" "0" "90" "1" "94509032" "94509032" "subst" "0" "00006" "ABCA4_002841" "g.94509032C>G" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1, PP5" "Germline" "" "" "0" "" "" "g.94043476C>G" "" "pathogenic (recessive)" "ACMG"
"0000958727" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "00006" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PM5, PP2, PP5_STRONG, PS4_MODERATE" "Germline" "" "" "0" "" "" "g.94008251C>T" "635154" "pathogenic (recessive)" "ACMG"
"0000958728" "0" "90" "1" "94543359" "94543359" "del" "0" "00006" "ABCA4_001518" "g.94543359del" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1, PP5" "Germline" "" "" "0" "" "" "g.94077803del" "" "pathogenic (recessive)" "ACMG"
"0000958729" "0" "90" "1" "94528806" "94528806" "subst" "0.000150298" "00006" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PP2, PP5_STRONG, PS4_MODERATE" "Germline" "" "" "0" "" "" "g.94063250A>G" "7901" "pathogenic (recessive)" "ACMG"
"0000958730" "0" "90" "1" "94486794" "94486794" "subst" "0" "00006" "ABCA4_000478" "g.94486794A>G" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1, PP5, PS4" "Germline" "" "" "0" "" "" "g.94021238A>G" "" "pathogenic (recessive)" "ACMG"
"0000958731" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "00006" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PP2, PP5_STRONG, PS4_MODERATE" "Germline" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" "ACMG"
"0000958732" "0" "90" "1" "94496571" "94496571" "subst" "4.06174E-6" "00006" "ABCA4_000111" "g.94496571G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1, PP5" "Germline" "" "" "0" "" "" "g.94031015G>A" "" "pathogenic (recessive)" "ACMG"
"0000958734" "0" "90" "1" "94544249" "94544249" "subst" "8.12196E-6" "00006" "ABCA4_000323" "g.94544249A>G" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PP2, PP5_STRONG" "Germline" "" "" "0" "" "" "g.94078693A>G" "" "pathogenic (recessive)" "ACMG"
"0000958735" "0" "90" "1" "94486794" "94486794" "subst" "0" "00006" "ABCA4_000478" "g.94486794A>G" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1, PP5, PS4" "Germline" "" "" "0" "" "" "g.94021238A>G" "" "pathogenic (recessive)" "ACMG"
"0000958736" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "00006" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PM5, PP2, PP5_STRONG, PS4_MODERATE" "Germline" "" "" "0" "" "" "g.94008251C>T" "635154" "pathogenic (recessive)" "ACMG"
"0000958737" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "00006" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PP5_STRONG, BP4, PS4_MODERATE" "Germline" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" "ACMG"
"0000958738" "0" "90" "1" "94528806" "94528806" "subst" "0.000150298" "00006" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PP2, PP5_STRONG, PS4_MODERATE" "Germline" "" "" "0" "" "" "g.94063250A>G" "7901" "pathogenic (recessive)" "ACMG"
"0000958740" "0" "90" "1" "94528806" "94528806" "subst" "0.000150298" "00006" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PP2, PP5_STRONG, PS4_MODERATE" "Germline" "" "" "0" "" "" "g.94063250A>G" "7901" "pathogenic (recessive)" "ACMG"
"0000958741" "0" "70" "1" "94480146" "94480146" "subst" "2.84273E-5" "00006" "ABCA4_000122" "g.94480146T>C" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PM1_SUPPORTING, PP2, PP5" "Germline" "" "" "0" "" "" "g.94014590T>C" "" "likely pathogenic (recessive)" "ACMG"
"0000958742" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "00006" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PM5, PM1, PP2, PP5_STRONG" "Germline" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic (recessive)" "ACMG"
"0000958743" "0" "90" "1" "94528806" "94528806" "subst" "0.000150298" "00006" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PP2, PP5_STRONG, PS4_MODERATE" "Germline" "" "" "0" "" "" "g.94063250A>G" "7901" "pathogenic (recessive)" "ACMG"
"0000958881" "0" "50" "1" "94528142" "94528142" "subst" "0.00153303" "00006" "ABCA4_000125" "g.94528142A>C" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM5_SUPPORTING, PP2, PP5" "Germline" "" "" "0" "" "" "g.94062586A>C" "99102" "VUS" "ACMG"
"0000958905" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "00006" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP2, PP5, BA1, BS2" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000958915" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "00006" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP2, PP5, BA1, BS2" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000958970" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "00006" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PP5_STRONG, PS4_MODERATE" "Germline" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic (recessive)" "ACMG"
"0000958971" "0" "90" "1" "94506764" "94506764" "subst" "0" "00006" "ABCA4_001173" "g.94506764C>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1, PP5" "Germline" "" "" "0" "" "" "g.94041208C>T" "" "pathogenic (recessive)" "ACMG"
"0000958972" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "00006" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP2, PP5, BA1, BS2" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000958973" "0" "90" "1" "94476351" "94476351" "subst" "0.000296608" "00006" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PP5_STRONG, PS4_MODERATE" "Germline" "" "" "0" "" "" "g.94010795C>T" "" "pathogenic (recessive)" "ACMG"
"0000958974" "0" "90" "1" "94528806" "94528806" "subst" "0.000150298" "00006" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PP2, PP5_STRONG, PS4_MODERATE" "Germline" "" "" "0" "" "" "g.94063250A>G" "7901" "pathogenic (recessive)" "ACMG"
"0000958975" "21" "50" "1" "94476467" "94476467" "subst" "0.0424562" "00006" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP2, PP5, BA1, BS2" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000958976" "1" "90" "1" "94486967" "94486967" "subst" "0" "00006" "ABCA4_001250" "g.94486967T>C" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1, PP5" "Germline" "" "" "0" "" "" "g.94021411T>C" "" "pathogenic (recessive)" "ACMG"
"0000958979" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "00006" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP2, PP5, BA1, BS2" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000958994" "0" "50" "1" "94528142" "94528142" "subst" "0.00153303" "00006" "ABCA4_000125" "g.94528142A>C" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM5_SUPPORTING, PP2, PP5; no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.94062586A>C" "" "VUS" "ACMG"
"0000958996" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "00006" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PM5, PP2, PP5_STRONG, PS4_MODERATE; no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.94008251C>T" "635154" "pathogenic (recessive)" "ACMG"
"0000958999" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "00006" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PM5, PP2, PP5_STRONG, PS4_MODERATE; no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.94008251C>T" "635154" "pathogenic (recessive)" "ACMG"
"0000959004" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "00006" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PM5, PP2, PP5_STRONG, PS4_MODERATE; no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.94008251C>T" "635154" "pathogenic (recessive)" "ACMG"
"0000959009" "21" "90" "1" "94528806" "94528806" "subst" "0.000150298" "00006" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PP2, PP5_STRONG, PS4_MODERATE; no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.94063250A>G" "7901" "pathogenic (recessive)" "ACMG"
"0000959011" "0" "70" "1" "94490534" "94490534" "subst" "0.000125895" "00006" "ABCA4_000520" "g.94490534G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PM1_SUPPORTING, PP2, PP5; no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.94024978G>A" "" "likely pathogenic (recessive)" "ACMG"
"0000959013" "0" "90" "1" "94466557" "94466557" "subst" "4.06154E-6" "00006" "ABCA4_000832" "g.94466557C>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1, PP5; no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.94001001C>T" "" "pathogenic (recessive)" "ACMG"
"0000959014" "0" "90" "1" "94526289" "94526289" "subst" "0.000417202" "00006" "ABCA4_000767" "g.94526289A>C" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PM1, PP2, PP5_STRONG; no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.94060733A>C" "" "pathogenic (recessive)" "ACMG"
"0000959016" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "00006" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PP5_STRONG, BP4, PS4_MODERATE; no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" "ACMG"
"0000959018" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "00006" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PP2, PP5_STRONG, PS4_MODERATE; no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" "ACMG"
"0000959020" "0" "50" "1" "94528142" "94528142" "subst" "0.00153303" "00006" "ABCA4_000125" "g.94528142A>C" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM5_SUPPORTING, PP2, PP5; no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.94062586A>C" "" "VUS" "ACMG"
"0000959034" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "00006" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PP2, PP5_STRONG, PS4_MODERATE; no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" "ACMG"
"0000959039" "0" "50" "1" "94514477" "94514477" "subst" "0.00118992" "00006" "ABCA4_000700" "g.94514477G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PP2, PP5, BS2, BP6; no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.94048921G>A" "" "VUS" "ACMG"
"0000959044" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "00006" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PM5, PP2, PP5_STRONG, PS4_MODERATE; no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.94008251C>T" "635154" "pathogenic (recessive)" "ACMG"
"0000959048" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "00006" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PP2, PP5_STRONG, PS4_MODERATE; no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" "ACMG"
"0000959052" "0" "90" "1" "94508323" "94508323" "subst" "0.000125953" "00006" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM1, PP2, PM2, PM5, PP3, PP5; no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.94042767G>A" "92867, 10" "pathogenic (recessive)" "ACMG"
"0000959065" "0" "90" "1" "94486895" "94486895" "subst" "3.24923E-5" "00006" "ABCA4_000484" "g.94486895C>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PS1_MODERATE, PP3, PM2, PM5, PM1_SUPPORTING, PP2, PP5_STRONG, PS4_MODERATE; no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.94021339C>T" "" "pathogenic (recessive)" "ACMG"
"0000959077" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "00006" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PM5, PP2, PP5_STRONG, PS4_MODERATE" "Germline" "" "" "0" "" "" "g.94008251C>T" "635154" "pathogenic (recessive)" "ACMG"
"0000959078" "0" "50" "1" "94549781" "94549781" "subst" "0" "00006" "ABCA4_001046" "g.94549781G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG BP7" "Germline" "" "" "0" "" "" "g.94084225G>A" "" "VUS" "ACMG"
"0000959086" "0" "70" "1" "94473272" "94473272" "subst" "0" "00006" "ABCA4_000390" "g.94473272C>G" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PM5, PM1, PP2" "Germline" "" "" "0" "" "" "g.94007716C>G" "" "likely pathogenic (recessive)" "ACMG"
"0000959087" "11" "90" "1" "94508969" "94508969" "subst" "0.00168642" "00006" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PM1_SUPPORTING, PP2, PP5_STRONG, PS4_MODERATE" "Germline" "" "" "0" "" "" "g.94043413G>A" "7901" "pathogenic (recessive)" "ACMG"
"0000959088" "21" "90" "1" "94473807" "94473807" "subst" "0.00480453" "00006" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PM5, PP2, PP5_STRONG, PS4_MODERATE" "Germline" "" "" "0" "" "" "g.94008251C>T" "635154" "pathogenic (recessive)" "ACMG"
"0000959090" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "00006" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PM5, PP2, PP5_STRONG, PS4_MODERATE" "Germline" "" "" "0" "" "" "g.94008251C>T" "635154" "pathogenic (recessive)" "ACMG"
"0000959091" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "00006" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PP5_STRONG, BP4, PS4_MODERATE" "Germline" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" "ACMG"
"0000959092" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "00006" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP2, PP5, BA1, BS2" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000959093" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "00006" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP2, PP5, BA1, BS2" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000959094" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "00006" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PP5_STRONG, BP4, PS4_MODERATE" "Germline" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic (recessive)" "ACMG"
"0000959095" "3" "90" "1" "94473807" "94473807" "subst" "0.00480453" "00006" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PM5, PP2, PP5_STRONG, PS4_MODERATE" "Germline" "" "" "0" "" "" "g.94008251C>T" "635154" "pathogenic (recessive)" "ACMG"
"0000959096" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "00006" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PM1_SUPPORTING, PP2, PP5_STRONG, PS4_MODERATE" "Germline" "" "" "0" "" "" "g.94043413G>A" "7901" "pathogenic (recessive)" "ACMG"
"0000959097" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "00006" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP2, PP5, BA1, BS2" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000959098" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "00006" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PM1_SUPPORTING, PP2, PP5_STRONG, PS4_MODERATE" "Germline" "" "" "0" "" "" "g.94043413G>A" "7901" "pathogenic (recessive)" "ACMG"
"0000959099" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "00006" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP2, PP5, BA1, BS2" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000959100" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "00006" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP2, PP5, BA1, BS2" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000959101" "0" "50" "1" "94526217" "94526217" "subst" "0" "00006" "ABCA4_002843" "g.94526217T>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PP2" "Germline" "" "" "0" "" "" "g.94060661T>A" "" "VUS" "ACMG"
"0000959105" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "00006" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PM5, PP2, PP5_STRONG, PS4_MODERATE" "Germline" "" "" "0" "" "" "g.94008251C>T" "635154" "pathogenic (recessive)" "ACMG"
"0000959106" "0" "70" "1" "94496509" "94496509" "subst" "0.00475243" "00006" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PP5_STRONG, BP7" "Germline" "" "" "0" "" "" "g.94030953C>T" "" "likely pathogenic (recessive)" "ACMG"
"0000959107" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "00006" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP2, PP5, BA1, BS2" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000959109" "0" "90" "1" "94471032" "94471032" "subst" "1.62553E-5" "00006" "ABCA4_000792" "g.94471032G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PM5, PM1, PP2, PP5_STRONG" "Germline" "" "" "0" "" "" "g.94005476G>A" "" "pathogenic (recessive)" "ACMG"
"0000959110" "0" "90" "1" "94466624" "94466624" "subst" "0.0014345" "00006" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PM5, PM1, PP2, PP5_STRONG, PS4_MODERATE" "Germline" "" "" "0" "" "" "g.94001068C>T" "1048126" "pathogenic (recessive)" "ACMG"
"0000959111" "0" "90" "1" "94463537" "94463537" "subst" "0" "00006" "ABCA4_000803" "g.94463537G>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1, PP5" "Germline" "" "" "0" "" "" "g.93997981G>T" "" "pathogenic (recessive)" "ACMG"
"0000959112" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "00006" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PM1_SUPPORTING, PP2, PP5_STRONG, PS4_MODERATE" "Germline" "" "" "0" "" "" "g.94043413G>A" "7901" "pathogenic (recessive)" "ACMG"
"0000959113" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "00006" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PM5, PP2, PP5_STRONG, PS4_MODERATE" "Germline" "" "" "0" "" "" "g.94008251C>T" "635154" "pathogenic (recessive)" "ACMG"
"0000959114" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "00006" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP2, PP5, BA1, BS2" "Germline" "" "" "0" "" "" "g.94010911T>A" "1048132" "VUS" "ACMG"
"0000959115" "0" "90" "1" "94466556" "94466556" "subst" "4.06164E-6" "00006" "ABCA4_000831" "g.94466556G>C" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1, PP5" "Germline" "" "" "0" "" "" "g.94001000G>C" "" "pathogenic (recessive)" "ACMG"
"0000959116" "0" "50" "1" "94564462" "94564462" "subst" "4.06775E-5" "00006" "ABCA4_000380" "g.94564462C>G" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PP2, PP5" "Germline" "" "" "0" "" "" "g.94098906C>G" "" "VUS" "ACMG"
"0000959117" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "00006" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP2, PP5, BA1, BS2" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000959119" "3" "50" "1" "94476467" "94476467" "subst" "0.0424562" "00006" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP2, PP5, BA1, BS2" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000959120" "3" "50" "1" "94476467" "94476467" "subst" "0.0424562" "00006" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP2, PP5, BA1, BS2" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000959121" "3" "50" "1" "94476467" "94476467" "subst" "0.0424562" "00006" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP2, PP5, BA1, BS2" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000959122" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "00006" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP2, PP5, BA1, BS2" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000959123" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "00006" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PM1_SUPPORTING, PP2, PP5_STRONG, PS4_MODERATE" "Germline" "" "" "0" "" "" "g.94043413G>A" "7901" "pathogenic (recessive)" "ACMG"
"0000959124" "0" "90" "1" "94466624" "94466624" "subst" "0.0014345" "00006" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PM5, PM1, PP2, PP5_STRONG, PS4_MODERATE" "Germline" "" "" "0" "" "" "g.94001068C>T" "1048126" "pathogenic (recessive)" "ACMG"
"0000959126" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "00006" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PM5, PP2, PP5_STRONG, PS4_MODERATE" "Germline" "" "" "0" "" "" "g.94008251C>T" "635154" "pathogenic (recessive)" "ACMG"
"0000959127" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "00006" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PM5, PP2, PP5_STRONG, PS4_MODERATE" "Germline" "" "" "0" "" "" "g.94008251C>T" "635154" "pathogenic (recessive)" "ACMG"
"0000959128" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "00006" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PM1_SUPPORTING, PP2, PP5_STRONG, PS4_MODERATE" "Germline" "" "" "0" "" "" "g.94043413G>A" "7901" "pathogenic (recessive)" "ACMG"
"0000959129" "0" "70" "1" "94496509" "94496509" "subst" "0.00475243" "00006" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PP5_STRONG, BP7" "Germline" "" "" "0" "" "" "g.94030953C>T" "" "likely pathogenic (recessive)" "ACMG"
"0000959130" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "00006" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP2, PP5, BA1, BS2" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000959131" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "00006" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PM1_SUPPORTING, PP2, PP5_STRONG, PS4_MODERATE" "Germline" "" "" "0" "" "" "g.94043413G>A" "7901" "pathogenic (recessive)" "ACMG"
"0000959132" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "00006" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PM5, PP2, PP5_STRONG, PS4_MODERATE" "Germline" "" "" "0" "" "" "g.94008251C>T" "635154" "pathogenic (recessive)" "ACMG"
"0000959133" "0" "90" "1" "94528179" "94528179" "subst" "0" "00006" "ABCA4_001433" "g.94528179C>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PM1, PP2, PP5_STRONG" "Germline" "" "" "0" "" "" "g.94062623C>T" "" "pathogenic (recessive)" "ACMG"
"0000959134" "0" "70" "1" "94496509" "94496509" "subst" "0.00475243" "00006" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PP5_STRONG, BP7" "Germline" "" "" "0" "" "" "g.94030953C>T" "" "likely pathogenic (recessive)" "ACMG"
"0000959135" "11" "70" "1" "94452244" "94471761" "del" "0" "00006" "ABCA4_000000" "g.94452244_94471761del" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "ACMG"
"0000959136" "0" "90" "1" "94467481" "94467481" "subst" "0" "00006" "ABCA4_001417" "g.94467481C>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PM1, PP2, PP5_STRONG" "Germline" "" "" "0" "" "" "g.94001925C>T" "" "pathogenic (recessive)" "ACMG"
"0000959137" "0" "90" "1" "94546265" "94546265" "subst" "2.04063E-5" "00006" "ABCA4_000355" "g.94546265G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PM5, PM1_SUPPORTING, PP2, PP5_STRONG" "Germline" "" "" "0" "" "" "g.94080709G>A" "" "pathogenic (recessive)" "ACMG"
"0000959138" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "00006" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PM5, PP2, PP5_STRONG, PS4_MODERATE" "Germline" "" "" "0" "" "" "g.94008251C>T" "635154" "pathogenic (recessive)" "ACMG"
"0000959139" "21" "50" "1" "94476467" "94476467" "subst" "0.0424562" "00006" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP2, PP5, BA1, BS2" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000959140" "0" "90" "1" "94473253" "94473253" "subst" "0" "00006" "ABCA4_001636" "g.94473253G>C" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PM1, PP2, PP5_STRONG" "Germline" "" "" "0" "" "" "g.94007697G>C" "" "pathogenic (recessive)" "ACMG"
"0000959141" "11" "90" "1" "94564484" "94564484" "subst" "0.000110199" "00006" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PP2, PP5_STRONG, PS4_MODERATE" "Germline" "" "" "0" "" "" "g.94098928G>A" "7898" "pathogenic (recessive)" "ACMG"
"0000959145" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "00006" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PM1_SUPPORTING, PP2, PP5_STRONG, PS4_MODERATE" "Germline" "" "" "0" "" "" "g.94043413G>A" "7901" "pathogenic (recessive)" "ACMG"
"0000959146" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "00006" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PM5, PP2, PP5_STRONG, PS4_MODERATE" "Germline" "" "" "0" "" "" "g.94008251C>T" "635154" "pathogenic (recessive)" "ACMG"
"0000959147" "0" "90" "1" "94517216" "94517216" "subst" "0" "00006" "ABCA4_001429" "g.94517216G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1, PP5" "Germline" "" "" "0" "" "" "g.94051660G>A" "" "pathogenic (recessive)" "ACMG"
"0000959149" "0" "90" "1" "94476351" "94476351" "subst" "0.000296608" "00006" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PP5_STRONG, PS4_MODERATE" "Germline" "" "" "0" "" "" "g.94010795C>T" "1048131" "pathogenic (recessive)" "ACMG"
"0000959150" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "00006" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PM5, PP2, PP5_STRONG, PS4_MODERATE" "Germline" "" "" "0" "" "" "g.94008251C>T" "635154" "pathogenic (recessive)" "ACMG"
"0000959151" "0" "70" "1" "94471046" "94471046" "subst" "0" "00006" "ABCA4_000794" "g.94471046A>G" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PM5_SUPPORTING, PM1, PP2, PP5, PS4_MODERATE" "Germline" "" "" "0" "" "" "g.94005490A>G" "" "likely pathogenic (recessive)" "ACMG"
"0000959152" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "00006" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PM5, PP2, PP5_STRONG, PS4_MODERATE" "Germline" "" "" "0" "" "" "g.94008251C>T" "635154" "pathogenic (recessive)" "ACMG"
"0000959155" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "00006" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PM5, PP2, PP5_STRONG, PS4_MODERATE" "Germline" "" "" "0" "" "" "g.94008251C>T" "635154" "pathogenic (recessive)" "ACMG"
"0000959156" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "00006" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP2, PP5, BA1, BS2" "Germline" "" "" "0" "" "" "g.94010911T>A" "1048132" "VUS" "ACMG"
"0000959157" "0" "90" "1" "94473266" "94473266" "subst" "8.14677E-6" "00006" "ABCA4_000389" "g.94473266C>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PM5, PM1, PP2, PP5_STRONG" "Germline" "" "" "0" "" "" "g.94007710C>T" "" "pathogenic (recessive)" "ACMG"
"0000959158" "0" "70" "1" "94528253" "94528253" "subst" "8.13729E-6" "00006" "ABCA4_000767" "g.94528253C>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PM1, PP2" "Germline" "" "" "0" "" "" "g.94062697C>T" "" "likely pathogenic (recessive)" "ACMG"
"0000959160" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "00006" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PP2, PP5_STRONG, PS4_MODERATE" "Germline" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic (recessive)" "ACMG"
"0000959161" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "00006" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP2, PP5, BA1, BS2" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000959162" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "00006" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PM5, PP2, PP5_STRONG, PS4_MODERATE" "Germline" "" "" "0" "" "" "g.94008251C>T" "635154" "pathogenic (recessive)" "ACMG"
"0000959164" "0" "90" "1" "94486836" "94486836" "subst" "8.12255E-6" "00006" "ABCA4_001739" "g.94486836G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PS1_MODERATE, PP3, PM2, PM5, PM1_SUPPORTING, PP2, PP5_STRONG" "Germline" "" "" "0" "" "" "g.94021280G>A" "" "pathogenic (recessive)" "ACMG"
"0000959165" "0" "90" "1" "94476351" "94476351" "subst" "0.000296608" "00006" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PP5_STRONG, PS4_MODERATE" "Germline" "" "" "0" "" "" "g.94010795C>T" "" "pathogenic (recessive)" "ACMG"
"0000959166" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "00006" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PM1_SUPPORTING, PP2, PP5_STRONG, PS4_MODERATE" "Germline" "" "" "0" "" "" "g.94043413G>A" "7901" "pathogenic (recessive)" "ACMG"
"0000959167" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "00006" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PM5, PP2, PP5_STRONG, PS4_MODERATE" "Germline" "" "" "0" "" "" "g.94008251C>T" "635154" "pathogenic (recessive)" "ACMG"
"0000959169" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "00006" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PM5, PP2, PP5_STRONG, PS4_MODERATE" "Germline" "" "" "0" "" "" "g.94008251C>T" "635154" "pathogenic (recessive)" "ACMG"
"0000959171" "0" "90" "1" "94496571" "94496571" "subst" "4.06174E-6" "00006" "ABCA4_000111" "g.94496571G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1, PP5" "Germline" "" "" "0" "" "" "g.94031015G>A" "" "pathogenic (recessive)" "ACMG"
"0000959172" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "00006" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP2, PP5, BA1, BS2" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000959174" "0" "70" "1" "94496509" "94496509" "subst" "0.00475243" "00006" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PP5_STRONG, BP7" "Germline" "" "" "0" "" "" "g.94030953C>T" "" "likely pathogenic (recessive)" "ACMG"
"0000959175" "0" "70" "1" "94577115" "94577115" "subst" "0" "00006" "ABCA4_002845" "g.94577115T>C" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PM1, PP2" "Germline" "" "" "0" "" "" "g.94111559T>C" "" "likely pathogenic (recessive)" "ACMG"
"0000959176" "0" "70" "1" "94502811" "94502811" "subst" "0" "00006" "ABCA4_001877" "g.94502811T>C" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PP2, PP5_STRONG" "Germline" "" "" "0" "" "" "g.94037255T>C" "" "likely pathogenic (recessive)" "ACMG"
"0000959177" "0" "90" "1" "94484001" "94484001" "subst" "0" "00006" "ABCA4_000016" "g.94484001C>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PP5_STRONG, BP7, PS4_MODERATE" "Germline" "" "" "0" "" "" "g.94018445C>T" "438100" "pathogenic (recessive)" "ACMG"
"0000959178" "0" "70" "1" "94476824" "94476824" "subst" "8.12889E-6" "00006" "ABCA4_000428" "g.94476824G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PM1_SUPPORTING, PP2, PP5_STRONG" "Germline" "" "" "0" "" "" "g.94011268G>A" "1275763" "likely pathogenic (recessive)" "ACMG"
"0000959179" "0" "70" "1" "94586187" "94587411" "del" "0" "00006" "ABCA4_000000" "g.94586187_94587411del" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "ACMG"
"0000959182" "3" "50" "1" "94476467" "94476467" "subst" "0.0424562" "00006" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP2, PP5, BA1, BS2" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000959185" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "00006" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PM1_SUPPORTING, PP2, PP5_STRONG, PS4_MODERATE" "Germline" "" "" "0" "" "" "g.94043413G>A" "7901" "pathogenic (recessive)" "ACMG"
"0000959186" "0" "70" "1" "94520853" "94520853" "subst" "8.14783E-6" "00006" "ABCA4_000729" "g.94520853C>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PM1_SUPPORTING, PP2, PP5" "Germline" "" "" "0" "" "" "g.94055297C>T" "631618" "likely pathogenic (recessive)" "ACMG"
"0000959187" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "00006" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PM1_SUPPORTING, PP2, PP5_STRONG, PS4_MODERATE" "Germline" "" "" "0" "" "" "g.94043413G>A" "7901" "pathogenic (recessive)" "ACMG"
"0000959188" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "00006" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PM5, PP2, PP5_STRONG, PS4_MODERATE" "Germline" "" "" "0" "" "" "g.94008251C>T" "635154" "pathogenic (recessive)" "ACMG"
"0000959189" "0" "50" "1" "94502756" "94502756" "subst" "0.000422575" "00006" "ABCA4_000032" "g.94502756G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2" "Germline" "" "" "0" "" "" "g.94037200G>A" "" "VUS" "ACMG"
"0000959190" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "00006" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP2, PP5, BA1, BS2" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000959191" "0" "50" "1" "94476379" "94476379" "subst" "0" "00006" "ABCA4_002303" "g.94476379C>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2" "Germline" "" "" "0" "" "" "g.94010823C>A" "" "VUS" "ACMG"
"0000959192" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "00006" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP2, PP5, BA1, BS2" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000959193" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "00006" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PM1_SUPPORTING, PP2, PP5_STRONG, PS4_MODERATE" "Germline" "" "" "0" "" "" "g.94043413G>A" "7901" "pathogenic (recessive)" "ACMG"
"0000959194" "0" "90" "1" "94480248" "94480248" "subst" "4.06121E-6" "00006" "ABCA4_002835" "g.94480248T>C" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1, PP5" "Germline" "" "" "0" "" "" "g.94014692T>C" "" "pathogenic (recessive)" "ACMG"
"0000959304" "11" "90" "1" "94471067" "94471067" "subst" "4.06237E-6" "00006" "ABCA4_001001" "g.94471067A>G" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PM1, PP2, PP5_STRONG" "Germline" "" "" "0" "" "" "g.94005511A>G" "" "pathogenic (recessive)" "ACMG"
"0000959320" "0" "90" "1" "94487399" "94487399" "subst" "7.30959E-5" "00006" "ABCA4_000038" "g.94487399T>C" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PP5_STRONG" "Germline" "" "" "0" "" "" "g.94021843T>C" "236122" "pathogenic (recessive)" "ACMG"
"0000959321" "0" "50" "1" "94486848" "94486848" "subst" "0" "00006" "ABCA4_002635" "g.94486848C>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PM1_SUPPORTING, PP2" "Germline" "" "" "0" "" "" "g.94021292C>A" "" "VUS" "ACMG"
"0000959340" "0" "90" "1" "94471055" "94471055" "subst" "0.00035346" "00006" "ABCA4_000029" "g.94471055C>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PM1, PP2, PP5_STRONG" "Germline" "" "" "0" "" "" "g.94005499C>T" "" "pathogenic (recessive)" "ACMG"
"0000959341" "0" "50" "1" "94514466" "94514466" "subst" "0.00192081" "00006" "ABCA4_000008" "g.94514466T>C" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP2, PP5, BP6" "Germline" "" "" "0" "" "" "g.94048910T>C" "" "VUS" "ACMG"
"0000959353" "0" "50" "1" "94520678" "94520678" "subst" "8.9367E-5" "00006" "ABCA4_002014" "g.94520678T>C" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PP2" "Germline" "" "" "0" "" "" "g.94055122T>C" "" "VUS" "ACMG"
"0000959382" "0" "50" "1" "94487404" "94487404" "subst" "0.00244055" "00006" "ABCA4_000497" "g.94487404C>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM5_SUPPORTING, PM1_SUPPORTING, PP2, PP5, BS1, BP6, PS4_MODERATE" "Germline" "" "" "0" "" "" "g.94021848C>T" "" "VUS" "ACMG"
"0000959418" "0" "50" "1" "94520760" "94520760" "subst" "8.12922E-6" "00006" "ABCA4_002842" "g.94520760C>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PM1_SUPPORTING, PP2" "Germline" "" "" "0" "" "" "g.94055204C>T" "" "VUS" "ACMG"
"0000959420" "0" "50" "1" "94543349" "94543349" "subst" "0" "00006" "ABCA4_002735" "g.94543349T>C" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PP2" "Germline" "" "" "0" "" "" "g.94077793T>C" "" "VUS" "ACMG"
"0000959421" "0" "50" "1" "94505627" "94505627" "subst" "4.20645E-6" "00006" "ABCA4_002840" "g.94505627A>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PP2" "Germline" "" "" "0" "" "" "g.94040071A>T" "" "VUS" "ACMG"
"0000959422" "0" "50" "1" "94502846" "94502851" "del" "0" "00006" "ABCA4_002839" "g.94502846_94502851del" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PM4" "Germline" "" "" "0" "" "" "g.94037290_94037295del" "" "VUS" "ACMG"
"0000959423" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "00006" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PM1_SUPPORTING, PP2, PP5_STRONG, PS4_MODERATE" "Germline" "" "" "0" "" "" "g.94043413G>A" "7901" "pathogenic (recessive)" "ACMG"
"0000959424" "0" "50" "1" "94490585" "94490585" "subst" "0" "00006" "ABCA4_000067" "g.94490585T>C" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PM1_SUPPORTING, PP2" "Germline" "" "" "0" "" "" "g.94025029T>C" "" "VUS" "ACMG"
"0000959425" "11" "50" "1" "94484004" "94484004" "subst" "0" "00006" "ABCA4_002836" "g.94484004G>C" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, BP7" "Germline" "" "" "0" "" "" "g.94018448G>C" "" "VUS" "ACMG"
"0000959426" "1" "50" "1" "94458738" "94458738" "subst" "0" "00006" "ABCA4_001553" "g.94458738C>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, BP7" "Germline" "" "" "0" "" "" "g.93993182C>T" "" "VUS" "ACMG"
"0000959429" "0" "50" "1" "94522153" "94522153" "subst" "0" "00006" "ABCA4_000974" "g.94522153T>C" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2" "Germline" "" "" "0" "" "" "g.94056597T>C" "" "VUS" "ACMG"
"0000959449" "21" "90" "1" "94508969" "94508969" "subst" "0.00168642" "00006" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PM1_SUPPORTING, PP2, PP5_STRONG, PS4_MODERATE; no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.94043413G>A" "7901" "pathogenic (recessive)" "ACMG"
"0000959450" "0" "50" "1" "94528142" "94528142" "subst" "0.00153303" "00006" "ABCA4_000125" "g.94528142A>C" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM5_SUPPORTING, PP2, PP5; no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.94062586A>C" "" "VUS" "ACMG"
"0000959453" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "00006" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP2, PP5, BA1, BS2; no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000959458" "0" "90" "1" "94528806" "94528806" "subst" "0.000150298" "00006" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PP2, PP5_STRONG, PS4_MODERATE; no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.94063250A>G" "7901" "pathogenic (recessive)" "ACMG"
"0000959459" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "00006" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PM1_SUPPORTING, PP2, PP5_STRONG, PS4_MODERATE; no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.94043413G>A" "7901" "pathogenic (recessive)" "ACMG"
"0000959776" "0" "50" "1" "94474421" "94474421" "subst" "8.14133E-6" "03779" "ABCA4_002775" "g.94474421G>A" "" "" "" "" "" "CLASSIFICATION record" "" "rs368502305" "0" "" "" "" "" "VUS" ""
"0000961202" "0" "70" "1" "94463701" "94463701" "subst" "0" "02327" "ABCA4_002548" "g.94463701T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0000961209" "0" "70" "1" "94476865" "94476865" "subst" "2.03107E-5" "02327" "ABCA4_000430" "g.94476865A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0000961211" "0" "30" "1" "94485278" "94485278" "subst" "0.000487317" "02330" "ABCA4_000101" "g.94485278C>T" "" "" "" "ABCA4(NM_000350.3):c.5056G>A (p.V1686M, p.(Val1686Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000961212" "0" "50" "1" "94485298" "94485298" "subst" "0" "02327" "ABCA4_002849" "g.94485298T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000961218" "0" "30" "1" "94543384" "94543384" "subst" "0" "02327" "ABCA4_002850" "g.94543384A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000961220" "0" "30" "1" "94568551" "94568551" "subst" "0.00127917" "02330" "ABCA4_002851" "g.94568551G>A" "" "" "" "ABCA4(NM_000350.3):c.570+20C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000974158" "0" "70" "1" "94473807" "94473807" "subst" "0.00480453" "01804" "ABCA4_000046" "g.94473807C>T" "" "" "" "ABCA4(NM_000350.2):c.5882G>A (p.G1961E), ABCA4(NM_000350.3):c.5882G>A (p.G1961E, p.(Gly1961Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0000974159" "0" "90" "1" "94476351" "94476351" "subst" "0.000296608" "02330" "ABCA4_000996" "g.94476351C>T" "" "" "" "ABCA4(NM_000350.2):c.5714+5G>A, ABCA4(NM_000350.3):c.5714+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000974160" "0" "90" "1" "94476351" "94476351" "subst" "0.000296608" "01804" "ABCA4_000996" "g.94476351C>T" "" "" "" "ABCA4(NM_000350.2):c.5714+5G>A, ABCA4(NM_000350.3):c.5714+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000974161" "0" "50" "1" "94476377" "94476377" "subst" "0.00160473" "01804" "ABCA4_000411" "g.94476377C>T" "" "" "" "ABCA4(NM_000350.2):c.5693G>A (p.R1898H), ABCA4(NM_000350.3):c.5693G>A (p.R1898H, p.(Arg1898His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000974162" "0" "70" "1" "94486896" "94486896" "subst" "3.65562E-5" "02330" "ABCA4_000085" "g.94486896G>A" "" "" "" "ABCA4(NM_000350.3):c.4918C>T (p.R1640W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0000974163" "0" "50" "1" "94487261" "94487261" "subst" "0" "02330" "ABCA4_002852" "g.94487261T>C" "" "" "" "ABCA4(NM_000350.3):c.4783A>G (p.T1595A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000974164" "0" "90" "1" "94493901" "94493901" "subst" "0" "02330" "ABCA4_001288" "g.94493901T>C" "" "" "" "ABCA4(NM_000350.3):c.4539+1100A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000974165" "0" "70" "1" "94495034" "94495034" "subst" "5.28994E-6" "01804" "ABCA4_000539" "g.94495034G>T" "" "" "" "ABCA4(NM_000350.2):c.4506C>A (p.C1502*), ABCA4(NM_000350.3):c.4506C>A (p.C1502*, p.(Cys1502Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0000974166" "0" "50" "1" "94495134" "94495134" "subst" "8.13167E-6" "01804" "ABCA4_002853" "g.94495134T>G" "" "" "" "ABCA4(NM_000350.3):c.4406A>C (p.(Asn1469Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000974167" "0" "50" "1" "94495146" "94495146" "subst" "4.06607E-6" "01804" "ABCA4_002854" "g.94495146G>A" "" "" "" "ABCA4(NM_000350.3):c.4394C>T (p.(Ser1465Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000974168" "0" "90" "1" "94496008" "94496008" "subst" "2.03056E-5" "01804" "ABCA4_000148" "g.94496008C>T" "" "" "" "ABCA4(NM_000350.3):c.4328G>A (p.(Arg1443His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000974169" "0" "30" "1" "94496039" "94496039" "subst" "0.00157963" "01804" "ABCA4_000552" "g.94496039C>T" "" "" "" "ABCA4(NM_000350.2):c.4297G>A (p.V1433I), ABCA4(NM_000350.3):c.4297G>A (p.V1433I, p.(Val1433Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000974170" "0" "50" "1" "94508969" "94508969" "subst" "0.00168642" "01804" "ABCA4_000021" "g.94508969G>A" "" "" "" "ABCA4(NM_000350.2):c.3113C>T (p.A1038V, p.(Ala1038Val)), ABCA4(NM_000350.3):c.3113C>T (p.A1038V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000974171" "0" "30" "1" "94512565" "94512565" "subst" "0.030364" "01804" "ABCA4_000002" "g.94512565C>T" "" "" "" "ABCA4(NM_000350.3):c.2828G>A (p.R943Q, p.(Arg943Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000974172" "0" "50" "1" "94514477" "94514477" "subst" "0.00118992" "01804" "ABCA4_000700" "g.94514477G>A" "" "" "" "ABCA4(NM_000350.2):c.2690C>T (p.T897I, p.(Thr897Ile)), ABCA4(NM_000350.3):c.2690C>T (p.T897I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000974173" "0" "70" "1" "94517254" "94517254" "subst" "0.00442654" "01804" "ABCA4_000034" "g.94517254C>G" "" "" "" "ABCA4(NM_000350.2):c.2588G>C (p.G863A, p.(Gly863Ala)), ABCA4(NM_000350.3):c.2588G>C (p.G863A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0000974174" "0" "30" "1" "94528142" "94528142" "subst" "0.00153303" "01804" "ABCA4_000125" "g.94528142A>C" "" "" "" "ABCA4(NM_000350.2):c.1928T>G (p.V643G), ABCA4(NM_000350.3):c.1928T>G (p.V643G, p.(Val643Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000974175" "0" "90" "1" "94528248" "94528248" "subst" "1.22148E-5" "01804" "ABCA4_000279" "g.94528248A>T" "" "" "" "ABCA4(NM_000350.2):c.1822T>A (p.F608I), ABCA4(NM_000350.3):c.1822T>A (p.F608I, p.(Phe608Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000974176" "0" "50" "1" "94568627" "94568627" "subst" "0.000422314" "01804" "ABCA4_000207" "g.94568627C>T" "" "" "" "ABCA4(NM_000350.2):c.514G>A (p.G172S), ABCA4(NM_000350.3):c.514G>A (p.G172S, p.(Gly172Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000974177" "0" "30" "1" "94568639" "94568639" "subst" "0" "01804" "ABCA4_002855" "g.94568639T>C" "" "" "" "ABCA4(NM_000350.3):c.502A>G (p.(Ile168Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000974178" "0" "30" "1" "94568686" "94568686" "subst" "0.00258122" "02327" "ABCA4_000212" "g.94568686C>T" "" "" "" "ABCA4(NM_000350.2):c.455G>A (p.R152Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000985479" "0" "70" "1" "94546208" "94546208" "del" "0" "02230" "ABCA4_002742" "g.94546208del" "" "{PMID:Zeuli 2024:38816995}" "" "" "" "Germline" "" "" "0" "" "" "g.94080652del" "" "likely pathogenic (recessive)" ""
"0000985480" "0" "90" "1" "94522194" "94522194" "subst" "0" "02230" "ABCA4_000733" "g.94522194C>T" "" "{PMID:Zeuli 2024:38816995}" "" "" "" "Germline" "" "" "0" "" "" "g.94056638C>T" "" "pathogenic (recessive)" ""
"0000985490" "0" "90" "1" "94484001" "94484001" "subst" "0" "02230" "ABCA4_000016" "g.94484001C>T" "" "{PMID:Zeuli 2024:38816995}" "" "" "" "Germline" "" "" "0" "" "" "g.94018445C>T" "" "pathogenic (recessive)" ""
"0000985491" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "02230" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Zeuli 2024:38816995}" "" "" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic (recessive)" ""
"0000986103" "1" "90" "1" "94495009" "94495009" "dup" "0" "04405" "ABCA4_000087" "g.94495009dup" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94029453dup" "" "pathogenic" "ACMG"
"0000986104" "1" "70" "1" "94543349" "94543349" "subst" "0" "04405" "ABCA4_002735" "g.94543349T>C" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "effect on spicing predicted from in vitro mini-gene splicing assay" "Germline" "" "" "0" "" "" "g.94077793T>C" "" "VUS" "ACMG"
"0000986105" "1" "50" "1" "94520732" "94520732" "subst" "0" "04405" "ABCA4_000973" "g.94520732T>G" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94055176T>G" "" "VUS" "ACMG"
"0000986106" "3" "90" "1" "94480179" "94480179" "subst" "0" "04405" "ABCA4_000991" "g.94480179C>G" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94014623C>G" "" "pathogenic" "ACMG"
"0000986107" "1" "70" "1" "94528161" "94528199" "del" "0" "04405" "ABCA4_002811" "g.94528161_94528199del" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94062605_94062643del" "" "likely pathogenic" "ACMG"
"0000986108" "1" "50" "1" "94544142" "94544142" "subst" "0" "04405" "ABCA4_001316" "g.94544142T>C" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94078586T>C" "" "VUS" "ACMG"
"0000986109" "1" "90" "1" "94522239" "94522239" "subst" "2.03305E-5" "04405" "ABCA4_000736" "g.94522239A>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94056683A>T" "" "pathogenic" "ACMG"
"0000986110" "1" "90" "1" "94564463" "94564463" "subst" "0" "04405" "ABCA4_000381" "g.94564463T>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94098907T>A" "" "pathogenic" "ACMG"
"0000986111" "1" "90" "1" "94466638" "94466638" "dup" "0" "04405" "ABCA4_001416" "g.94466638dup" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94001082dup" "" "pathogenic" "ACMG"
"0000986112" "1" "50" "1" "94476467" "94476467" "subst" "0.0424562" "04405" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000986113" "1" "90" "1" "94546115" "94546115" "subst" "0" "04405" "ABCA4_000984" "g.94546115A>G" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94080559A>G" "" "pathogenic" "ACMG"
"0000986114" "1" "70" "1" "94484082" "94484082" "subst" "0" "04405" "ABCA4_000028" "g.94484082T>C" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94018526T>C" "" "likely pathogenic" "ACMG"
"0000986115" "1" "90" "1" "94546265" "94546265" "subst" "2.04063E-5" "04405" "ABCA4_000355" "g.94546265G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94080709G>A" "" "pathogenic" "ACMG"
"0000986116" "1" "90" "1" "94564549" "94564549" "subst" "0" "04405" "ABCA4_000199" "g.94564549T>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94098993T>A" "" "pathogenic" "ACMG"
"0000986117" "1" "90" "1" "94471022" "94471022" "subst" "0" "04405" "ABCA4_000790" "g.94471022C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94005466C>T" "" "pathogenic" "ACMG"
"0000986118" "3" "70" "1" "94492937" "94492937" "subst" "0" "04405" "ABCA4_000529" "g.94492937G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94027381G>A" "" "likely pathogenic" "ACMG"
"0000986119" "3" "90" "1" "94577008" "94577008" "subst" "0" "04405" "ABCA4_000223" "g.94577008G>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.288C>A(;)5882G>A" "" "Germline" "" "" "0" "" "" "g.94111452G>T" "" "pathogenic" "ACMG"
"0000986120" "1" "90" "1" "94495071" "94495071" "subst" "6.39479E-5" "04405" "ABCA4_000997" "g.94495071C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94029515C>T" "" "pathogenic" "ACMG"
"0000986121" "1" "90" "1" "94564442" "94564454" "del" "0" "04405" "ABCA4_000377" "g.94564442_94564454del" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94098886_94098898del" "" "pathogenic" "ACMG"
"0000986122" "1" "90" "1" "94586601" "94586601" "subst" "8.12156E-6" "04405" "ABCA4_000264" "g.94586601T>C" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94121045T>C" "" "pathogenic" "ACMG"
"0000986123" "1" "90" "1" "94564462" "94564462" "subst" "4.06775E-5" "04405" "ABCA4_000380" "g.94564462C>G" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.656G>C(;)2588G>C(;)5603A>T" "" "Germline" "" "" "0" "" "" "g.94098906C>G" "" "pathogenic" "ACMG"
"0000986124" "1" "90" "1" "94496666" "94496666" "subst" "0.000219568" "04405" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94031110G>A" "" "pathogenic" "ACMG"
"0000986125" "1" "70" "1" "94496547" "94496547" "subst" "4.06345E-6" "04405" "ABCA4_000559" "g.94496547C>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94030991C>A" "" "likely pathogenic" "ACMG"
"0000986126" "1" "90" "1" "94490567" "94490567" "subst" "5.68528E-5" "04405" "ABCA4_000026" "g.94490567G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94025011G>A" "" "pathogenic" "ACMG"
"0000986127" "1" "90" "1" "94528819" "94528819" "subst" "2.03128E-5" "04405" "ABCA4_000078" "g.94528819G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94063263G>A" "" "pathogenic" "ACMG"
"0000986128" "1" "70" "1" "94496509" "94496509" "subst" "0.00475243" "04405" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94030953C>T" "" "likely pathogenic" "ACMG"
"0000986129" "1" "90" "1" "94476951" "94476951" "subst" "0.000236097" "04405" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.5461-10T>C(;)5603A>T" "" "Germline" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic" "ACMG"
"0000986130" "1" "90" "1" "94486934" "94486934" "del" "1.62529E-5" "04405" "ABCA4_001745" "g.94486934del" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94021378del" "" "pathogenic" "ACMG"
"0000986131" "1" "90" "1" "94476951" "94476951" "subst" "0.000236097" "04405" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.5461-10T>C(;)5603A>T" "" "Germline" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic" "ACMG"
"0000986132" "1" "90" "1" "94520707" "94520708" "dup" "0" "04405" "ABCA4_002871" "g.94520707_94520708dup" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.2547_2548dup(;)5603A>T" "" "Germline" "" "" "0" "" "" "g.94055151_94055152dup" "" "pathogenic" "ACMG"
"0000986133" "1" "90" "1" "94485137" "94485137" "subst" "0" "04405" "ABCA4_000464" "g.94485137C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94019581C>T" "" "pathogenic" "ACMG"
"0000986134" "1" "90" "1" "94476467" "94476467" "subst" "0.0424562" "04405" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.5461-10T>C(;)5603A>T" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "pathogenic" "ACMG"
"0000986135" "1" "90" "1" "94495983" "94495983" "subst" "8.12348E-6" "04405" "ABCA4_000547" "g.94495983C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94030427C>T" "" "pathogenic" "ACMG"
"0000986136" "1" "90" "1" "94577102" "94577102" "subst" "4.06161E-6" "04405" "ABCA4_000033" "g.94577102C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94111546C>T" "" "pathogenic" "ACMG"
"0000986137" "1" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "04405" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic" "ACMG"
"0000986138" "1" "90" "1" "94546118" "94546118" "subst" "8.13326E-6" "04405" "ABCA4_000082" "g.94546118A>C" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94080562A>C" "" "pathogenic" "ACMG"
"0000986139" "1" "90" "1" "94546118" "94546118" "subst" "8.13326E-6" "04405" "ABCA4_000082" "g.94546118A>C" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94080562A>C" "" "pathogenic" "ACMG"
"0000986140" "1" "90" "1" "94546118" "94546118" "subst" "8.13326E-6" "04405" "ABCA4_000082" "g.94546118A>C" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94080562A>C" "" "pathogenic" "ACMG"
"0000986141" "3" "90" "1" "94508435" "94508436" "dup" "0" "04405" "ABCA4_000998" "g.94508435_94508436dup" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.3210_3211dup(;)5603A>T" "" "Germline" "" "" "0" "" "" "g.94042879_94042880dup" "" "pathogenic" "ACMG"
"0000986142" "1" "90" "1" "94486896" "94486896" "subst" "3.65562E-5" "04405" "ABCA4_000085" "g.94486896G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94021340G>A" "" "pathogenic" "ACMG"
"0000986143" "1" "70" "1" "94548907" "94548907" "subst" "0" "04405" "ABCA4_002877" "g.94548907C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94083351C>T" "" "likely pathogenic" "ACMG"
"0000986144" "1" "90" "1" "94496509" "94496509" "subst" "0.00475243" "04405" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.4253+43G>A(;)4469G>A" "" "Germline" "" "" "0" "" "" "g.94030953C>T" "" "pathogenic" "ACMG"
"0000986145" "1" "70" "1" "94476842" "94476842" "subst" "2.43764E-5" "04405" "ABCA4_001682" "g.94476842C>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94011286C>A" "" "likely pathogenic" "ACMG"
"0000986146" "1" "70" "1" "94586586" "94586586" "subst" "0" "04405" "ABCA4_002255" "g.94586586G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94121030G>A" "" "likely pathogenic" "ACMG"
"0000986147" "1" "90" "1" "94528806" "94528806" "subst" "0.000150298" "04405" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.[1622T>C;3113C>T]" "" "Germline" "" "" "0" "" "" "g.94063250A>G" "" "pathogenic" "ACMG"
"0000986148" "1" "70" "1" "94586536" "94586536" "subst" "0" "04405" "ABCA4_002247" "g.94586536C>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94120980C>A" "" "likely pathogenic" "ACMG"
"0000986149" "1" "50" "1" "94549781" "94549781" "subst" "0" "04405" "ABCA4_001046" "g.94549781G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.769-784C>T(;)5603A>T" "" "Germline" "" "" "0" "" "" "g.94084225G>A" "" "VUS" "ACMG"
"0000986150" "1" "90" "1" "94512499" "94512499" "subst" "0.000130029" "04405" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94046943T>C" "" "pathogenic" "ACMG"
"0000986151" "1" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "04405" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic" "ACMG"
"0000986152" "1" "50" "1" "94476467" "94476467" "subst" "0.0424562" "04405" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000986153" "3" "90" "1" "94495071" "94495071" "subst" "6.39479E-5" "04405" "ABCA4_000997" "g.94495071C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.4469G>A(;)5603A>T" "" "Germline" "" "" "0" "" "" "g.94029515C>T" "" "pathogenic" "ACMG"
"0000986154" "1" "90" "1" "94508997" "94508997" "subst" "0" "04405" "ABCA4_000112" "g.94508997G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94043441G>A" "" "pathogenic" "ACMG"
"0000986155" "1" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "04405" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic" "ACMG"
"0000986156" "3" "90" "1" "94476951" "94476951" "subst" "0.000236097" "04405" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.[5461-10T>C;5603A>T]" "" "Germline" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic" "ACMG"
"0000986157" "1" "50" "1" "94485157" "94485157" "subst" "0" "04405" "ABCA4_000466" "g.94485157G>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.[5177C>A;5603A>T]" "" "Germline" "" "" "0" "" "" "g.94019601G>T" "" "VUS" "ACMG"
"0000986158" "1" "70" "1" "94486835" "94486835" "subst" "0" "04405" "ABCA4_002863" "g.94486835G>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94021279G>T" "" "likely pathogenic" "ACMG"
"0000986159" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "04405" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic" "ACMG"
"0000986160" "1" "90" "1" "94487490" "94487490" "subst" "0.00122268" "04405" "ABCA4_000506" "g.94487490A>G" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94021934A>G" "" "pathogenic" "ACMG"
"0000986161" "1" "50" "1" "94544227" "94544227" "subst" "0" "04405" "ABCA4_002876" "g.94544227C>G" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94078671C>G" "" "VUS" "ACMG"
"0000986162" "1" "90" "1" "94496666" "94496666" "subst" "0.000219568" "04405" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94031110G>A" "" "pathogenic" "ACMG"
"0000986163" "1" "50" "1" "94549781" "94549781" "subst" "0" "04405" "ABCA4_001046" "g.94549781G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.769-784C>T(;)5882G>A" "" "Germline" "" "" "0" "" "" "g.94084225G>A" "" "VUS" "ACMG"
"0000986164" "1" "90" "1" "94522239" "94522239" "subst" "2.03305E-5" "04405" "ABCA4_000736" "g.94522239A>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94056683A>T" "" "pathogenic" "ACMG"
"0000986165" "1" "70" "1" "94490546" "94490546" "subst" "0" "04405" "ABCA4_001785" "g.94490546A>G" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94024990A>G" "" "likely pathogenic" "ACMG"
"0000986166" "1" "50" "1" "94476467" "94476467" "subst" "0.0424562" "04405" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000986167" "1" "90" "1" "94497591" "94497591" "subst" "0" "04405" "ABCA4_000587" "g.94497591G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94032035G>A" "" "pathogenic" "ACMG"
"0000986168" "1" "90" "1" "94564549" "94564549" "subst" "0" "04405" "ABCA4_000199" "g.94564549T>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94098993T>A" "" "pathogenic" "ACMG"
"0000986169" "1" "90" "1" "94496008" "94496008" "subst" "2.03056E-5" "04405" "ABCA4_000148" "g.94496008C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94030452C>T" "" "pathogenic" "ACMG"
"0000986170" "1" "90" "1" "94577046" "94577049" "dup" "0" "04405" "ABCA4_000227" "g.94577046_94577049dup" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94111490_94111493dup" "" "pathogenic" "ACMG"
"0000986171" "1" "70" "1" "94574147" "94574147" "subst" "8.12236E-6" "04405" "ABCA4_000213" "g.94574147G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94108591G>A" "" "likely pathogenic" "ACMG"
"0000986172" "1" "90" "1" "94526296" "94526296" "subst" "1.64555E-5" "04405" "ABCA4_000768" "g.94526296G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94060740G>A" "" "pathogenic" "ACMG"
"0000986173" "1" "90" "1" "94508356" "94508356" "subst" "0" "04405" "ABCA4_000635" "g.94508356T>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94042800T>A" "" "pathogenic" "ACMG"
"0000986174" "1" "50" "1" "94544181" "94544181" "subst" "0" "04405" "ABCA4_002874" "g.94544181A>C" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94078625A>C" "" "VUS" "ACMG"
"0000986175" "1" "90" "1" "94577046" "94577049" "dup" "0" "04405" "ABCA4_000227" "g.94577046_94577049dup" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94111490_94111493dup" "" "pathogenic" "ACMG"
"0000986176" "1" "90" "1" "94495103" "94495103" "subst" "0" "04405" "ABCA4_001813" "g.94495103C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94029547C>T" "" "pathogenic" "ACMG"
"0000986177" "1" "90" "1" "94578624" "94578624" "subst" "4.07408E-6" "04405" "ABCA4_001055" "g.94578624T>C" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.67-2A>G(;)769-784C>T" "" "Germline" "" "" "0" "" "" "g.94113068T>C" "" "pathogenic" "ACMG"
"0000986178" "1" "90" "1" "94528806" "94528806" "subst" "0.000150298" "04405" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.1622T>C(;)3113C>T" "" "Germline" "" "" "0" "" "" "g.94063250A>G" "" "pathogenic" "ACMG"
"0000986179" "1" "90" "1" "94564430" "94564430" "subst" "0" "04405" "ABCA4_000376" "g.94564430A>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94098874A>T" "" "pathogenic" "ACMG"
"0000986180" "1" "90" "1" "94528806" "94528806" "subst" "0.000150298" "04405" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.[1622T>C;3113C>T]" "" "Germline" "" "" "0" "" "" "g.94063250A>G" "" "pathogenic" "ACMG"
"0000986181" "1" "90" "1" "94473807" "94473807" "subst" "0.00480453" "04405" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic" "ACMG"
"0000986182" "1" "90" "1" "94526212" "94526212" "subst" "1.22012E-5" "04405" "ABCA4_000075" "g.94526212G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94060656G>A" "" "pathogenic" "ACMG"
"0000986183" "1" "90" "1" "94480146" "94480146" "subst" "2.84273E-5" "04405" "ABCA4_000122" "g.94480146T>C" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94014590T>C" "" "pathogenic" "ACMG"
"0000986184" "1" "50" "1" "94476467" "94476467" "subst" "0.0424562" "04405" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000986185" "1" "90" "1" "94526296" "94526296" "subst" "1.64555E-5" "04405" "ABCA4_000768" "g.94526296G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94060740G>A" "" "pathogenic" "ACMG"
"0000986186" "1" "50" "1" "94476951" "94476951" "subst" "0.000236097" "04405" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.5461-10T>C(;)5603A>T" "" "Germline" "" "" "0" "" "" "g.94011395A>G" "" "VUS" "ACMG"
"0000986187" "1" "70" "1" "94522275" "94522275" "subst" "0" "04405" "ABCA4_002576" "g.94522275A>G" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94056719A>G" "" "likely pathogenic" "ACMG"
"0000986188" "1" "90" "1" "94526212" "94526212" "subst" "1.22012E-5" "04405" "ABCA4_000075" "g.94526212G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94060656G>A" "" "pathogenic" "ACMG"
"0000986190" "3" "90" "1" "94481294" "94481294" "subst" "0" "04405" "ABCA4_000110" "g.94481294C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94015738C>T" "" "pathogenic" "ACMG"
"0000986191" "1" "90" "1" "94497393" "94497393" "subst" "2.04188E-5" "04405" "ABCA4_000578" "g.94497393C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94031837C>T" "" "pathogenic" "ACMG"
"0000986192" "3" "90" "1" "94471056" "94471056" "subst" "2.84398E-5" "04405" "ABCA4_000050" "g.94471056G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94005500G>A" "" "pathogenic" "ACMG"
"0000986193" "3" "90" "1" "94544185" "94544185" "subst" "8.12137E-6" "04405" "ABCA4_000177" "g.94544185C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94078629C>T" "" "pathogenic" "ACMG"
"0000986194" "1" "90" "1" "94508433" "94508433" "subst" "8.12209E-6" "04405" "ABCA4_000151" "g.94508433G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94042877G>A" "" "pathogenic" "ACMG"
"0000986195" "1" "70" "1" "94574147" "94574147" "subst" "8.12236E-6" "04405" "ABCA4_000213" "g.94574147G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94108591G>A" "" "likely pathogenic" "ACMG"
"0000986196" "1" "90" "1" "94528806" "94528806" "subst" "0.000150298" "04405" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.1622T>C(;)3113C>T" "" "Germline" "" "" "0" "" "" "g.94063250A>G" "" "pathogenic" "ACMG"
"0000986197" "1" "70" "1" "94520687" "94520687" "subst" "0" "04405" "ABCA4_002870" "g.94520687T>G" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94055131T>G" "" "likely pathogenic" "ACMG"
"0000986198" "1" "90" "1" "94528132" "94528132" "subst" "4.06835E-6" "04405" "ABCA4_000773" "g.94528132C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94062576C>T" "" "pathogenic" "ACMG"
"0000986199" "1" "90" "1" "94528806" "94528806" "subst" "0.000150298" "04405" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.1622T>C(;)3113C>T" "" "Germline" "" "" "0" "" "" "g.94063250A>G" "" "pathogenic" "ACMG"
"0000986200" "1" "90" "1" "94528806" "94528806" "subst" "0.000150298" "04405" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.1622T>C(;)3113C>T" "" "Germline" "" "" "0" "" "" "g.94063250A>G" "" "pathogenic" "ACMG"
"0000986201" "1" "90" "1" "94528806" "94528806" "subst" "0.000150298" "04405" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.1622T>C(;)3113C>T" "" "Germline" "" "" "0" "" "" "g.94063250A>G" "" "pathogenic" "ACMG"
"0000986202" "3" "90" "1" "94568687" "94568687" "subst" "1.62641E-5" "04405" "ABCA4_000024" "g.94568687G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94103131G>A" "" "pathogenic" "ACMG"
"0000986203" "1" "50" "1" "94577034" "94577034" "subst" "4.06441E-6" "04405" "ABCA4_002223" "g.94577034C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94111478C>T" "" "VUS" "ACMG"
"0000986204" "1" "90" "1" "94508386" "94508386" "subst" "1.62443E-5" "04405" "ABCA4_000642" "g.94508386C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94042830C>T" "" "pathogenic" "ACMG"
"0000986205" "1" "70" "1" "94526184" "94526184" "subst" "0" "04405" "ABCA4_000755" "g.94526184C>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94060628C>A" "" "likely pathogenic" "ACMG"
"0000986206" "1" "90" "1" "94473807" "94473807" "subst" "0.00480453" "04405" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic" "ACMG"
"0000986207" "1" "90" "1" "94586601" "94586601" "subst" "8.12156E-6" "04405" "ABCA4_000264" "g.94586601T>C" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94121045T>C" "" "pathogenic" "ACMG"
"0000986208" "1" "90" "1" "94480146" "94480146" "subst" "2.84273E-5" "04405" "ABCA4_000122" "g.94480146T>C" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94014590T>C" "" "pathogenic" "ACMG"
"0000986209" "1" "90" "1" "94473807" "94473807" "subst" "0.00480453" "04405" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic" "ACMG"
"0000986210" "1" "90" "1" "94473807" "94473807" "subst" "0.00480453" "04405" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic" "ACMG"
"0000986211" "1" "90" "1" "94564383" "94564383" "subst" "0" "04405" "ABCA4_000371" "g.94564383A>C" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.735T>G(;)2549A>G" "" "Germline" "" "" "0" "" "" "g.94098827A>C" "" "pathogenic" "ACMG"
"0000986212" "1" "90" "1" "94476467" "94476467" "subst" "0.0424562" "04405" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.5603A>T(;)5692C>T" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "pathogenic" "ACMG"
"0000986213" "1" "90" "1" "94476467" "94476467" "subst" "0.0424562" "04405" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.5603A>T(;)5939C>T" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "pathogenic" "ACMG"
"0000986214" "3" "90" "1" "94486794" "94486794" "subst" "0" "04405" "ABCA4_000478" "g.94486794A>G" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94021238A>G" "" "pathogenic" "ACMG"
"0000986215" "1" "90" "1" "94577046" "94577049" "dup" "0" "04405" "ABCA4_000227" "g.94577046_94577049dup" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94111490_94111493dup" "" "pathogenic" "ACMG"
"0000986216" "1" "90" "1" "94577046" "94577049" "dup" "0" "04405" "ABCA4_000227" "g.94577046_94577049dup" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94111490_94111493dup" "" "pathogenic" "ACMG"
"0000986217" "1" "70" "1" "94520864" "94520864" "subst" "0" "04405" "ABCA4_000166" "g.94520864A>G" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94055308A>G" "" "likely pathogenic" "ACMG"
"0000986218" "1" "90" "1" "94512499" "94512499" "subst" "0.000130029" "04405" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94046943T>C" "" "pathogenic" "ACMG"
"0000986219" "1" "90" "1" "94486888" "94486888" "subst" "3.65548E-5" "04405" "ABCA4_000137" "g.94486888G>C" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.4926C>G(;)5044_5058del" "" "Germline" "" "" "0" "" "" "g.94021332G>C" "" "pathogenic" "ACMG"
"0000986220" "3" "90" "1" "94508433" "94508433" "subst" "8.12209E-6" "04405" "ABCA4_000151" "g.94508433G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94042877G>A" "" "pathogenic" "ACMG"
"0000986221" "1" "90" "1" "94480179" "94480179" "subst" "0" "04405" "ABCA4_000991" "g.94480179C>G" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94014623C>G" "" "pathogenic" "ACMG"
"0000986222" "1" "90" "1" "94512602" "94512602" "subst" "0.000369717" "04405" "ABCA4_000052" "g.94512602C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94047046C>T" "" "pathogenic" "ACMG"
"0000986223" "1" "70" "1" "94528254" "94528254" "subst" "0" "04405" "ABCA4_002873" "g.94528254C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94062698C>T" "" "likely pathogenic" "ACMG"
"0000986224" "1" "90" "1" "94480179" "94480179" "subst" "0" "04405" "ABCA4_000991" "g.94480179C>G" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94014623C>G" "" "pathogenic" "ACMG"
"0000986225" "1" "50" "1" "94476467" "94476467" "subst" "0.0424562" "04405" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000986226" "1" "90" "1" "94496666" "94496666" "subst" "0.000219568" "04405" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "carries likely causative variants in more than one gene" "Germline" "" "" "0" "" "" "g.94031110G>A" "" "pathogenic" "ACMG"
"0000986227" "1" "50" "1" "94476467" "94476467" "subst" "0.0424562" "04405" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000986228" "1" "90" "1" "94528780" "94528780" "subst" "4.06171E-6" "04405" "ABCA4_000299" "g.94528780C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94063224C>T" "" "pathogenic" "ACMG"
"0000986229" "1" "90" "1" "94496571" "94496571" "subst" "4.06174E-6" "04405" "ABCA4_000111" "g.94496571G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94031015G>A" "" "pathogenic" "ACMG"
"0000986230" "1" "90" "1" "94508373" "94508373" "subst" "0" "04405" "ABCA4_000639" "g.94508373C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94042817C>T" "" "pathogenic" "ACMG"
"0000986231" "1" "90" "1" "94473807" "94473807" "subst" "0.00480453" "04405" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic" "ACMG"
"0000986232" "1" "70" "1" "94574147" "94574147" "subst" "8.12236E-6" "04405" "ABCA4_000213" "g.94574147G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94108591G>A" "" "likely pathogenic" "ACMG"
"0000986233" "1" "90" "1" "94528806" "94528806" "subst" "0.000150298" "04405" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.[1622T>C;3113C>T]" "" "Germline" "" "" "0" "" "" "g.94063250A>G" "" "pathogenic" "ACMG"
"0000986234" "1" "90" "1" "94526212" "94526212" "subst" "1.22012E-5" "04405" "ABCA4_000075" "g.94526212G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94060656G>A" "" "pathogenic" "ACMG"
"0000986235" "1" "50" "1" "94528842" "94528842" "subst" "4.06441E-6" "04405" "ABCA4_000302" "g.94528842T>C" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94063286T>C" "" "VUS" "ACMG"
"0000986236" "1" "90" "1" "94578624" "94578624" "subst" "4.07408E-6" "04405" "ABCA4_001055" "g.94578624T>C" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.67-2A>G(;)769-784C>T" "" "Germline" "" "" "0" "" "" "g.94113068T>C" "" "pathogenic" "ACMG"
"0000986237" "1" "90" "1" "94528806" "94528806" "subst" "0.000150298" "04405" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.1622T>C(;)3113C>T" "" "Germline" "" "" "0" "" "" "g.94063250A>G" "" "pathogenic" "ACMG"
"0000986238" "1" "90" "1" "94546248" "94546248" "del" "2.03666E-5" "04405" "ABCA4_000352" "g.94546248del" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94080692del" "" "pathogenic" "ACMG"
"0000986239" "1" "50" "1" "94520847" "94520847" "subst" "0" "04405" "ABCA4_002872" "g.94520847C>G" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94055291C>G" "" "VUS" "ACMG"
"0000986240" "1" "70" "1" "94520864" "94520864" "subst" "0" "04405" "ABCA4_000166" "g.94520864A>G" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94055308A>G" "" "likely pathogenic" "ACMG"
"0000986241" "1" "70" "1" "94496509" "94496509" "subst" "0.00475243" "04405" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94030953C>T" "" "likely pathogenic" "ACMG"
"0000986242" "1" "90" "1" "94564549" "94564549" "subst" "0" "04405" "ABCA4_000199" "g.94564549T>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94098993T>A" "" "pathogenic" "ACMG"
"0000986243" "1" "90" "1" "94564549" "94564549" "subst" "0" "04405" "ABCA4_000199" "g.94564549T>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94098993T>A" "" "pathogenic" "ACMG"
"0000986244" "1" "90" "1" "94476467" "94476467" "subst" "0.0424562" "04405" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.[5603A>T;6282+1G>C]" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "pathogenic" "ACMG"
"0000986245" "1" "90" "1" "94564549" "94564549" "subst" "0" "04405" "ABCA4_000199" "g.94564549T>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94098993T>A" "" "pathogenic" "ACMG"
"0000986246" "1" "90" "1" "94528806" "94528806" "subst" "0.000150298" "04405" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.1622T>C(;)3113C>T" "" "Germline" "" "" "0" "" "" "g.94063250A>G" "" "pathogenic" "ACMG"
"0000986247" "1" "70" "1" "94496509" "94496509" "subst" "0.00475243" "04405" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94030953C>T" "" "likely pathogenic" "ACMG"
"0000986248" "1" "90" "1" "94578529" "94578529" "subst" "0" "04405" "ABCA4_000245" "g.94578529A>C" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.160T>G(;)587C>T" "" "Germline" "" "" "0" "" "" "g.94112973A>C" "" "pathogenic" "ACMG"
"0000986249" "1" "90" "1" "94544159" "94544159" "subst" "2.03079E-5" "04405" "ABCA4_000063" "g.94544159A>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94078603A>T" "" "pathogenic" "ACMG"
"0000986250" "1" "50" "1" "94511074" "94511074" "subst" "0" "04405" "ABCA4_002572" "g.94511074T>C" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94045518T>C" "" "VUS" "ACMG"
"0000986251" "1" "50" "1" "94502844" "94502844" "subst" "1.21954E-5" "04405" "ABCA4_001880" "g.94502844A>C" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94037288A>C" "" "VUS" "ACMG"
"0000986252" "1" "50" "1" "94546124" "94546124" "subst" "0" "04405" "ABCA4_000342" "g.94546124A>G" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94080568A>G" "" "VUS" "ACMG"
"0000986253" "1" "70" "1" "94487215" "94487215" "del" "0" "04405" "ABCA4_002473" "g.94487215del" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94021659del" "" "likely pathogenic" "ACMG"
"0000986254" "1" "50" "1" "94544203" "94544203" "subst" "0" "04405" "ABCA4_002875" "g.94544203T>C" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94078647T>C" "" "VUS" "ACMG"
"0000986255" "1" "50" "1" "94564351" "94564548" "del" "0" "04405" "ABCA4_002878" "g.94564351_94564548del" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94098795_94098992del" "" "VUS" "ACMG"
"0000986256" "1" "90" "1" "94508323" "94508323" "subst" "0.000125953" "04405" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.[3322C>T;6320G>A]" "" "Germline" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic" "ACMG"
"0000986257" "1" "90" "1" "94495083" "94495083" "subst" "0.000124542" "04405" "ABCA4_000542" "g.94495083G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94029527G>A" "" "pathogenic" "ACMG"
"0000986258" "1" "70" "1" "94496509" "94496509" "subst" "0.00475243" "04405" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94030953C>T" "" "likely pathogenic" "ACMG"
"0000986259" "1" "90" "1" "94497519" "94497519" "subst" "0" "04405" "ABCA4_000585" "g.94497519G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94031963G>A" "" "pathogenic" "ACMG"
"0000986260" "1" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "04405" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94062710G>A" "" "pathogenic" "ACMG"
"0000986261" "1" "90" "1" "94486895" "94486895" "subst" "3.24923E-5" "04405" "ABCA4_000484" "g.94486895C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94021339C>T" "" "pathogenic" "ACMG"
"0000986262" "1" "90" "1" "94485159" "94485159" "dup" "0" "04405" "ABCA4_001453" "g.94485159dup" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94019603dup" "" "pathogenic" "ACMG"
"0000986263" "1" "90" "1" "94578624" "94578624" "subst" "4.07408E-6" "04405" "ABCA4_001055" "g.94578624T>C" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94113068T>C" "" "pathogenic" "ACMG"
"0000986264" "1" "90" "1" "94496571" "94496571" "subst" "4.06174E-6" "04405" "ABCA4_000111" "g.94496571G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94031015G>A" "" "pathogenic" "ACMG"
"0000986265" "1" "90" "1" "94528806" "94528806" "subst" "0.000150298" "04405" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.1622T>C(;)3113C>T" "" "Germline" "" "" "0" "" "" "g.94063250A>G" "" "pathogenic" "ACMG"
"0000986266" "1" "90" "1" "94526212" "94526212" "subst" "1.22012E-5" "04405" "ABCA4_000075" "g.94526212G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94060656G>A" "" "pathogenic" "ACMG"
"0000986267" "1" "90" "1" "94486895" "94486895" "subst" "3.24923E-5" "04405" "ABCA4_000484" "g.94486895C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94021339C>T" "" "pathogenic" "ACMG"
"0000986268" "1" "90" "1" "94528806" "94528806" "subst" "0.000150298" "04405" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.[1622T>C;3113C>T]" "" "Germline" "" "" "0" "" "" "g.94063250A>G" "" "pathogenic" "ACMG"
"0000986269" "1" "70" "1" "94512589" "94512589" "subst" "4.06184E-6" "04405" "ABCA4_000696" "g.94512589A>G" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94047033A>G" "" "likely pathogenic" "ACMG"
"0000986270" "1" "90" "1" "94528806" "94528806" "subst" "0.000150298" "04405" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.1622T>C(;)3113C>T" "" "Germline" "" "" "0" "" "" "g.94063250A>G" "" "pathogenic" "ACMG"
"0000986271" "1" "90" "1" "94528806" "94528806" "subst" "0.000150298" "04405" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.1622T>C(;)3113C>T" "carries likely causative variants in more than one gene" "Germline" "" "" "0" "" "" "g.94063250A>G" "" "pathogenic" "ACMG"
"0000986272" "1" "90" "1" "94528806" "94528806" "subst" "0.000150298" "04405" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.1622T>C(;)3113C>T" "carries likely causative variants in more than one gene" "Germline" "" "" "0" "" "" "g.94063250A>G" "" "pathogenic" "ACMG"
"0000986273" "1" "90" "1" "94528806" "94528806" "subst" "0.000150298" "04405" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.1622T>C(;)3113C>T" "" "Germline" "" "" "0" "" "" "g.94063250A>G" "" "pathogenic" "ACMG"
"0000986274" "1" "90" "1" "94528251" "94528251" "subst" "0" "04405" "ABCA4_000077" "g.94528251C>G" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94062695C>G" "" "pathogenic" "ACMG"
"0000986275" "1" "90" "1" "94473807" "94473807" "subst" "0.00480453" "04405" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic" "ACMG"
"0000986276" "1" "90" "1" "94528806" "94528806" "subst" "0.000150298" "04405" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.1622T>C(;)3113C>T" "" "Germline" "" "" "0" "" "" "g.94063250A>G" "" "pathogenic" "ACMG"
"0000986277" "1" "90" "1" "94486791" "94486791" "subst" "0" "04405" "ABCA4_001253" "g.94486791C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.5018+5G>A(;)5603A>T" "" "Germline" "" "" "0" "" "" "g.94021235C>T" "" "pathogenic" "ACMG"
"0000986278" "1" "90" "1" "94528806" "94528806" "subst" "0.000150298" "04405" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.1622T>C(;)3113C>T" "" "Germline" "" "" "0" "" "" "g.94063250A>G" "" "pathogenic" "ACMG"
"0000986279" "1" "90" "1" "94543304" "94543304" "subst" "0" "04405" "ABCA4_001476" "g.94543304C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94077748C>T" "" "pathogenic" "ACMG"
"0000986280" "1" "90" "1" "94568687" "94568687" "subst" "1.62641E-5" "04405" "ABCA4_000024" "g.94568687G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94103131G>A" "" "pathogenic" "ACMG"
"0000986281" "1" "90" "1" "94528806" "94528806" "subst" "0.000150298" "04405" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.1622T>C(;)3113C>T" "" "Germline" "" "" "0" "" "" "g.94063250A>G" "" "pathogenic" "ACMG"
"0000986282" "1" "90" "1" "94577082" "94577082" "subst" "2.84315E-5" "04405" "ABCA4_000232" "g.94577082C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94111526C>T" "" "pathogenic" "ACMG"
"0000986283" "1" "90" "1" "94517254" "94517254" "subst" "0.00442654" "04405" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.2588G>C(;)5603A>T" "" "Germline" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic" "ACMG"
"0000986284" "1" "70" "1" "94517224" "94517224" "subst" "0" "04405" "ABCA4_002869" "g.94517224A>C" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94051668A>C" "" "likely pathogenic" "ACMG"
"0000986285" "1" "70" "1" "94492937" "94492937" "subst" "0" "04405" "ABCA4_000529" "g.94492937G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "carries likely causative variants in more than one gene" "Germline" "" "" "0" "" "" "g.94027381G>A" "" "likely pathogenic" "ACMG"
"0000986286" "1" "70" "1" "94493000" "94493000" "subst" "0" "04405" "ABCA4_000015" "g.94493000C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94027444C>T" "" "likely pathogenic" "ACMG"
"0000986287" "1" "90" "1" "94485137" "94485137" "subst" "0" "04405" "ABCA4_000464" "g.94485137C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94019581C>T" "" "pathogenic" "ACMG"
"0000986288" "3" "50" "1" "94496097" "94496097" "subst" "0" "04405" "ABCA4_001218" "g.94496097A>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94030541A>T" "" "VUS" "ACMG"
"0000986289" "1" "70" "1" "94502700" "94505598" "del" "0" "04405" "ABCA4_002867" "g.(94505598_94502907)_(94502700_94502345)del" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "ACMG"
"0000986290" "1" "90" "1" "94564462" "94564462" "subst" "4.06775E-5" "04405" "ABCA4_000380" "g.94564462C>G" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.[656G>C;2588G>C;5603A>T]" "" "Germline" "" "" "0" "" "" "g.94098906C>G" "" "pathogenic" "ACMG"
"0000986291" "1" "90" "1" "94577002" "94577002" "subst" "7.32398E-5" "04405" "ABCA4_000987" "g.94577002G>C" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.294C>G(;)926C>G" "" "Germline" "" "" "0" "" "" "g.94111446G>C" "" "pathogenic" "ACMG"
"0000986292" "1" "90" "1" "94564462" "94564462" "subst" "4.06775E-5" "04405" "ABCA4_000380" "g.94564462C>G" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.[656G>C;2588G>C;5603A>T]" "" "Germline" "" "" "0" "" "" "g.94098906C>G" "" "pathogenic" "ACMG"
"0000986611" "2" "50" "1" "94476467" "94476467" "subst" "0.0424562" "04405" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000986612" "2" "90" "1" "94466422" "94466422" "subst" "2.43651E-5" "04405" "ABCA4_000817" "g.94466422C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94000866C>T" "" "pathogenic" "ACMG"
"0000986613" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "04405" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic" "ACMG"
"0000986614" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "04405" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic" "ACMG"
"0000986615" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "04405" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic" "ACMG"
"0000986616" "2" "50" "1" "94507082" "94507082" "subst" "0" "04405" "ABCA4_002856" "g.94507082C>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "effect on spicing predicted from in vitro mini-gene splicing assay" "Germline" "" "" "0" "" "" "g.94041526C>A" "" "VUS" "ACMG"
"0000986617" "2" "90" "1" "94495000" "94495188" "del" "0" "04405" "ABCA4_002656" "g.(94495000_94490605)_(94495983_94495188)del" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG"
"0000986618" "2" "90" "1" "94466624" "94466624" "subst" "0.0014345" "04405" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94001068C>T" "" "pathogenic" "ACMG"
"0000986619" "2" "90" "1" "94466556" "94466556" "subst" "4.06164E-6" "04405" "ABCA4_000831" "g.94466556G>C" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94001000G>C" "" "pathogenic" "ACMG"
"0000986620" "2" "90" "1" "94528806" "94528806" "subst" "0.000150298" "04405" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.1622T>C(;)3113C>T" "" "Germline" "" "" "0" "" "" "g.94063250A>G" "" "pathogenic" "ACMG"
"0000986621" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "04405" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.1622T>C(;)3113C>T" "" "Germline" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic" "ACMG"
"0000986622" "2" "50" "1" "94476467" "94476467" "subst" "0.0424562" "04405" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000986623" "2" "70" "1" "94476872" "94476872" "subst" "0" "04405" "ABCA4_001685" "g.94476872C>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94011316C>A" "" "likely pathogenic" "ACMG"
"0000986624" "2" "90" "1" "94476467" "94476467" "subst" "0.0424562" "04405" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.5603A>T(;)5882G>A" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "pathogenic" "ACMG"
"0000986625" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "04405" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.5603A>T(;)5882G>A" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic" "ACMG"
"0000986626" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "04405" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic" "ACMG"
"0000986627" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "04405" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.288C>A(;)5882G>A" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic" "ACMG"
"0000986628" "2" "90" "1" "94484001" "94484001" "subst" "0" "04405" "ABCA4_000016" "g.94484001C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.5196+1137G>A(;)5603A>T" "" "Germline" "" "" "0" "" "" "g.94018445C>T" "" "pathogenic" "ACMG"
"0000986629" "0" "90" "1" "94476467" "94476467" "subst" "0.0424562" "04405" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.5196+1137G>A(;)5603A>T" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "pathogenic" "ACMG"
"0000986630" "2" "90" "1" "94549781" "94549781" "subst" "0" "04405" "ABCA4_001046" "g.94549781G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.769-784C>T(;)5882G>A" "" "Germline" "" "" "0" "" "" "g.94084225G>A" "" "pathogenic" "ACMG"
"0000986631" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "04405" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.769-784C>T(;)5882G>A" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic" "ACMG"
"0000986632" "2" "90" "1" "94466624" "94466624" "subst" "0.0014345" "04405" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94001068C>T" "" "pathogenic" "ACMG"
"0000986633" "0" "90" "1" "94517254" "94517254" "subst" "0.00442654" "04405" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.656G>C(;)2588G>C(;)5603A>T" "" "Germline" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic" "ACMG"
"0000986634" "0" "90" "1" "94476467" "94476467" "subst" "0.0424562" "04405" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.656G>C(;)2588G>C(;)5603A>T" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "pathogenic" "ACMG"
"0000986635" "2" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "04405" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic" "ACMG"
"0000986636" "2" "90" "1" "94476951" "94476951" "subst" "0.000236097" "04405" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.5461-10T>C(;)5603A>T" "" "Germline" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic" "ACMG"
"0000986637" "0" "90" "1" "94476467" "94476467" "subst" "0.0424562" "04405" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.5461-10T>C(;)5603A>T" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "pathogenic" "ACMG"
"0000986638" "2" "90" "1" "94476951" "94476951" "subst" "0.000236097" "04405" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.5461-10T>C(;)5603A>T" "" "Germline" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic" "ACMG"
"0000986639" "0" "90" "1" "94476467" "94476467" "subst" "0.0424562" "04405" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.5461-10T>C(;)5603A>T" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "pathogenic" "ACMG"
"0000986640" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "04405" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic" "ACMG"
"0000986641" "2" "70" "1" "94487459" "94487459" "del" "0" "04405" "ABCA4_002864" "g.94487459del" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94021903del" "" "likely pathogenic" "ACMG"
"0000986642" "2" "90" "1" "94467475" "94467475" "subst" "3.65542E-5" "04405" "ABCA4_000171" "g.94467475C>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94001919C>A" "" "pathogenic" "ACMG"
"0000986643" "0" "90" "1" "94476467" "94476467" "subst" "0.0424562" "04405" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.5461-10T>C(;)5603A>T" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "pathogenic" "ACMG"
"0000986644" "2" "90" "1" "94466624" "94466624" "subst" "0.0014345" "04405" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94001068C>T" "" "pathogenic" "ACMG"
"0000986645" "2" "90" "1" "94466624" "94466624" "subst" "0.0014345" "04405" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94001068C>T" "" "pathogenic" "ACMG"
"0000986646" "0" "90" "1" "94476467" "94476467" "subst" "0.0424562" "04405" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.5461-10T>C(;)5603A>T" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "pathogenic" "ACMG"
"0000986647" "2" "70" "1" "94466445" "94466445" "subst" "0" "04405" "ABCA4_002859" "g.94466445G>C" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94000889G>C" "" "likely pathogenic" "ACMG"
"0000986648" "0" "90" "1" "94476467" "94476467" "subst" "0.0424562" "04405" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.2547_2548dup(;)5603A>T" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "pathogenic" "ACMG"
"0000986649" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "04405" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic" "ACMG"
"0000986650" "2" "90" "1" "94476951" "94476951" "subst" "0.000236097" "04405" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.5461-10T>C(;)5603A>T" "" "Germline" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic" "ACMG"
"0000986651" "2" "90" "1" "94476351" "94476351" "subst" "0.000296608" "04405" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94010795C>T" "" "pathogenic" "ACMG"
"0000986652" "2" "70" "1" "94471058" "94471058" "subst" "0" "04405" "ABCA4_001625" "g.94471058C>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94005502C>A" "" "likely pathogenic" "ACMG"
"0000986653" "2" "90" "1" "94528806" "94528806" "subst" "0.000150298" "04405" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.1622T>C(;)3113C>T" "" "Germline" "" "" "0" "" "" "g.94063250A>G" "" "pathogenic" "ACMG"
"0000986654" "2" "90" "1" "94508969" "94508969" "subst" "0.00168642" "04405" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.1622T>C(;)3113C>T" "" "Germline" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic" "ACMG"
"0000986655" "2" "50" "1" "94473856" "94473856" "subst" "0" "04405" "ABCA4_000058" "g.94473856G>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94008300G>T" "" "VUS" "ACMG"
"0000986656" "2" "50" "1" "94476467" "94476467" "subst" "0.0424562" "04405" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000986657" "2" "50" "1" "94476467" "94476467" "subst" "0.0424562" "04405" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000986658" "2" "50" "1" "94476467" "94476467" "subst" "0.0424562" "04405" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000986659" "1" "90" "1" "94476467" "94476467" "subst" "0.0424562" "04405" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.3210_3211dup(;)5603A>T" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "pathogenic" "ACMG"
"0000986660" "2" "50" "1" "94476467" "94476467" "subst" "0.0424562" "04405" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000986661" "2" "70" "1" "94496509" "94496509" "subst" "0.00475243" "04405" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94030953C>T" "" "likely pathogenic" "ACMG"
"0000986662" "0" "90" "1" "94495071" "94495071" "subst" "6.39479E-5" "04405" "ABCA4_000997" "g.94495071C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.4253+43G>A(;)4469G>A" "" "Germline" "" "" "0" "" "" "g.94029515C>T" "" "pathogenic" "ACMG"
"0000986663" "2" "50" "1" "94476467" "94476467" "subst" "0.0424562" "04405" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000986664" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "04405" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic" "ACMG"
"0000986665" "2" "50" "1" "94476467" "94476467" "subst" "0.0424562" "04405" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000986666" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "04405" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.[1622T>C;3113C>T]" "" "Germline" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic" "ACMG"
"0000986667" "2" "50" "1" "94476467" "94476467" "subst" "0.0424562" "04405" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000986668" "2" "90" "1" "94466624" "94466624" "subst" "0.0014345" "04405" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94001068C>T" "" "pathogenic" "ACMG"
"0000986669" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "04405" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.769-784C>T(;)5603A>T" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000986670" "2" "90" "1" "94476951" "94476951" "subst" "0.000236097" "04405" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.5461-10T>C(;)5603A>T" "" "Germline" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic" "ACMG"
"0000986671" "0" "90" "1" "94476467" "94476467" "subst" "0.0424562" "04405" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.5461-10T>C(;)5603A>T" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "pathogenic" "ACMG"
"0000986672" "2" "70" "1" "94496509" "94496509" "subst" "0.00475243" "04405" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94030953C>T" "" "likely pathogenic" "ACMG"
"0000986673" "2" "50" "1" "94476467" "94476467" "subst" "0.0424562" "04405" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000986674" "2" "90" "1" "94466556" "94466556" "subst" "4.06164E-6" "04405" "ABCA4_000831" "g.94466556G>C" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94001000G>C" "" "pathogenic" "ACMG"
"0000986675" "1" "90" "1" "94476467" "94476467" "subst" "0.0424562" "04405" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.4469G>A(;)5603A>T" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "pathogenic" "ACMG"
"0000986676" "2" "50" "1" "94476467" "94476467" "subst" "0.0424562" "04405" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000986677" "2" "50" "1" "94476467" "94476467" "subst" "0.0424562" "04405" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000986678" "3" "90" "1" "94476467" "94476467" "subst" "0.0424562" "04405" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.[5461-10T>C;5603A>T]" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "pathogenic" "ACMG"
"0000986679" "1" "50" "1" "94476467" "94476467" "subst" "0.0424562" "04405" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.[5177C>A;5603A>T]" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000986680" "2" "50" "1" "94476467" "94476467" "subst" "0.0424562" "04405" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000986681" "2" "50" "1" "94463568" "94463603" "del" "0" "04405" "ABCA4_000805" "g.94463568_94463603del" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.93998012_93998047del" "" "VUS" "ACMG"
"0000986682" "2" "50" "1" "94463568" "94463603" "del" "0" "04405" "ABCA4_000805" "g.94463568_94463603del" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.93998012_93998047del" "" "VUS" "ACMG"
"0000986683" "2" "50" "1" "94476467" "94476467" "subst" "0.0424562" "04405" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000986684" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "04405" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic" "ACMG"
"0000986685" "0" "50" "1" "94473807" "94473807" "subst" "0.00480453" "04405" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.769-784C>T(;)5882G>A" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "VUS" "ACMG"
"0000986686" "2" "90" "1" "94474364" "94474365" "del" "0" "04405" "ABCA4_001656" "g.94474364_94474365del" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94008808_94008809del" "" "pathogenic" "ACMG"
"0000986687" "2" "90" "1" "94487251" "94487251" "subst" "2.85679E-5" "04405" "ABCA4_000490" "g.94487251G>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94021695G>T" "" "pathogenic" "ACMG"
"0000986688" "2" "70" "1" "94484082" "94484082" "subst" "0" "04405" "ABCA4_000028" "g.94484082T>C" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94018526T>C" "" "likely pathogenic" "ACMG"
"0000986689" "2" "90" "1" "94467460" "94467461" "del" "0" "04405" "ABCA4_000778" "g.94467460_94467461del" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94001904_94001905del" "" "pathogenic" "ACMG"
"0000986690" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "04405" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic" "ACMG"
"0000986691" "2" "70" "1" "94528783" "94528783" "subst" "0" "04405" "ABCA4_002726" "g.94528783C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.1645G>A(;)5603A>T" "" "Germline" "" "" "0" "" "" "g.94063227C>T" "" "likely pathogenic" "ACMG"
"0000986692" "0" "70" "1" "94476467" "94476467" "subst" "0.0424562" "04405" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.1645G>A(;)5603A>T" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "likely pathogenic" "ACMG"
"0000986693" "2" "90" "1" "94471056" "94471056" "subst" "2.84398E-5" "04405" "ABCA4_000050" "g.94471056G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94005500G>A" "" "pathogenic" "ACMG"
"0000986694" "2" "90" "1" "94466628" "94466628" "subst" "0.000109748" "04405" "ABCA4_000094" "g.94466628G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94001072G>A" "" "pathogenic" "ACMG"
"0000986695" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "04405" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic" "ACMG"
"0000986696" "2" "90" "1" "94488941" "94488941" "subst" "4.09836E-6" "04405" "ABCA4_000127" "g.94488941C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94023385C>T" "" "pathogenic" "ACMG"
"0000986697" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "04405" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic" "ACMG"
"0000986698" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "04405" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic" "ACMG"
"0000986699" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "04405" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic" "ACMG"
"0000986700" "2" "50" "1" "94476467" "94476467" "subst" "0.0424562" "04405" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000986701" "0" "90" "1" "94549781" "94549781" "subst" "0" "04405" "ABCA4_001046" "g.94549781G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.67-2A>G(;)769-784C>T" "" "Germline" "" "" "0" "" "" "g.94084225G>A" "" "pathogenic" "ACMG"
"0000986702" "2" "50" "1" "94476467" "94476467" "subst" "0.0424562" "04405" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000986703" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "04405" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.1622T>C(;)3113C>T" "" "Germline" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic" "ACMG"
"0000986704" "2" "90" "1" "94476951" "94476951" "subst" "0.000236097" "04405" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.5461-10T>C(;)5603A>T" "" "Germline" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic" "ACMG"
"0000986705" "0" "90" "1" "94476467" "94476467" "subst" "0.0424562" "04405" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.5461-10T>C(;)5603A>T" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "pathogenic" "ACMG"
"0000986706" "2" "70" "1" "94494999" "94494999" "subst" "0" "04405" "ABCA4_002865" "g.94494999A>G" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94029443A>G" "" "likely pathogenic" "ACMG"
"0000986707" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "04405" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.[1622T>C;3113C>T]" "" "Germline" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic" "ACMG"
"0000986708" "2" "70" "1" "94496509" "94496509" "subst" "0.00475243" "04405" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94030953C>T" "" "likely pathogenic" "ACMG"
"0000986709" "2" "90" "1" "94473218" "94473218" "del" "0" "04405" "ABCA4_002860" "g.94473218del" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94007662del" "" "pathogenic" "ACMG"
"0000986710" "2" "70" "1" "94502343" "94502343" "subst" "0" "04405" "ABCA4_002866" "g.94502343A>C" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94036787A>C" "" "likely pathogenic" "ACMG"
"0000986711" "2" "90" "1" "94471055" "94471055" "subst" "0.00035346" "04405" "ABCA4_000029" "g.94471055C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94005499C>T" "" "pathogenic" "ACMG"
"0000986712" "2" "90" "1" "94471001" "94471001" "del" "0" "04405" "ABCA4_001337" "g.94471001del" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94005445del" "" "pathogenic" "ACMG"
"0000986713" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "04405" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic" "ACMG"
"0000986714" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "04405" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.5461-10T>C(;)5603A>T" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000986715" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "04405" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic" "ACMG"
"0000986716" "2" "90" "1" "94473218" "94473218" "del" "0" "04405" "ABCA4_002860" "g.94473218del" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94007662del" "" "pathogenic" "ACMG"
"0000986717" "2" "50" "1" "94476467" "94476467" "subst" "0.0424562" "04405" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000986719" "2" "90" "1" "94476351" "94476351" "subst" "0.000296608" "04405" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94010795C>T" "" "pathogenic" "ACMG"
"0000986720" "2" "90" "1" "94476467" "94476467" "subst" "0.0424562" "04405" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.5603A>T(;)5882G>A" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "pathogenic" "ACMG"
"0000986721" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "04405" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.5603A>T(;)5882G>A" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic" "ACMG"
"0000986722" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "04405" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic" "ACMG"
"0000986723" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "04405" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.1622T>C(;)3113C>T" "" "Germline" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic" "ACMG"
"0000986724" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "04405" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic" "ACMG"
"0000986725" "2" "70" "1" "94496509" "94496509" "subst" "0.00475243" "04405" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94030953C>T" "" "likely pathogenic" "ACMG"
"0000986726" "2" "50" "1" "94476467" "94476467" "subst" "0.0424562" "04405" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000986727" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "04405" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.1622T>C(;)3113C>T" "" "Germline" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic" "ACMG"
"0000986728" "2" "50" "1" "94476467" "94476467" "subst" "0.0424562" "04405" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000986729" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "04405" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.1622T>C(;)3113C>T" "" "Germline" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic" "ACMG"
"0000986730" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "04405" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic" "ACMG"
"0000986731" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "04405" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.1622T>C(;)3113C>T" "" "Germline" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic" "ACMG"
"0000986732" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "04405" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic" "ACMG"
"0000986733" "2" "90" "1" "94564484" "94564484" "subst" "0.000110199" "04405" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94098928G>A" "" "pathogenic" "ACMG"
"0000986734" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "04405" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic" "ACMG"
"0000986735" "2" "90" "1" "94485247" "94485247" "subst" "4.07647E-5" "04405" "ABCA4_000475" "g.94485247C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.5087G>A(;)5603A>T" "" "Germline" "" "" "0" "" "" "g.94019691C>T" "" "pathogenic" "ACMG"
"0000986736" "0" "90" "1" "94476467" "94476467" "subst" "0.0424562" "04405" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.5087G>A(;)5603A>T" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "pathogenic" "ACMG"
"0000986737" "2" "90" "1" "94473189" "94473189" "subst" "0" "04405" "ABCA4_000386" "g.94473189C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94007633C>T" "" "pathogenic" "ACMG"
"0000986738" "2" "90" "1" "94485247" "94485247" "subst" "4.07647E-5" "04405" "ABCA4_000475" "g.94485247C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.5087G>A(;)6089G>A" "" "Germline" "" "" "0" "" "" "g.94019691C>T" "" "pathogenic" "ACMG"
"0000986739" "0" "90" "1" "94471055" "94471055" "subst" "0.00035346" "04405" "ABCA4_000029" "g.94471055C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.5087G>A(;)6089G>A" "" "Germline" "" "" "0" "" "" "g.94005499C>T" "" "pathogenic" "ACMG"
"0000986740" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "04405" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic" "ACMG"
"0000986741" "2" "90" "1" "94471056" "94471056" "subst" "2.84398E-5" "04405" "ABCA4_000050" "g.94471056G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94005500G>A" "" "pathogenic" "ACMG"
"0000986742" "2" "90" "1" "94463488" "94463488" "subst" "5.2803E-5" "04405" "ABCA4_000802" "g.94463488G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.93997932G>A" "" "pathogenic" "ACMG"
"0000986743" "0" "90" "1" "94520705" "94520705" "subst" "0" "04405" "ABCA4_000714" "g.94520705T>C" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.735T>G(;)2549A>G" "" "Germline" "" "" "0" "" "" "g.94055149T>C" "" "pathogenic" "ACMG"
"0000986744" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "04405" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic" "ACMG"
"0000986745" "0" "70" "1" "94476378" "94476378" "subst" "0.000499679" "04405" "ABCA4_000412" "g.94476378G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.5603A>T(;)5692C>T" "" "Germline" "" "" "0" "" "" "g.94010822G>A" "" "likely pathogenic" "ACMG"
"0000986746" "2" "90" "1" "94473253" "94473253" "subst" "0" "04405" "ABCA4_001636" "g.94473253G>C" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94007697G>C" "" "pathogenic" "ACMG"
"0000986747" "0" "70" "1" "94473256" "94473256" "subst" "0" "04405" "ABCA4_001638" "g.94473256G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.5603A>T(;)5939C>T" "" "Germline" "" "" "0" "" "" "g.94007700G>A" "" "likely pathogenic" "ACMG"
"0000986748" "2" "90" "1" "94467413" "94467413" "subst" "8.12612E-6" "04405" "ABCA4_000131" "g.94467413C>G" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94001857C>G" "" "pathogenic" "ACMG"
"0000986749" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "04405" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic" "ACMG"
"0000986750" "2" "90" "1" "94471056" "94471056" "subst" "2.84398E-5" "04405" "ABCA4_000050" "g.94471056G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94005500G>A" "" "pathogenic" "ACMG"
"0000986751" "2" "90" "1" "94476351" "94476351" "subst" "0.000296608" "04405" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94010795C>T" "" "pathogenic" "ACMG"
"0000986752" "2" "90" "1" "94495983" "94495983" "subst" "8.12348E-6" "04405" "ABCA4_000547" "g.94495983C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94030427C>T" "" "pathogenic" "ACMG"
"0000986753" "0" "90" "1" "94485279" "94485293" "del" "0" "04405" "ABCA4_000476" "g.94485279_94485293del" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.4926C>G(;)5044_5058del" "" "Germline" "" "" "0" "" "" "g.94019723_94019737del" "" "pathogenic" "ACMG"
"0000986754" "2" "90" "1" "94473789" "94473789" "subst" "0" "04405" "ABCA4_001644" "g.94473789A>G" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94008233A>G" "" "pathogenic" "ACMG"
"0000986755" "2" "90" "1" "94480098" "94480098" "subst" "0" "04405" "ABCA4_000437" "g.94480098C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94014542C>T" "" "pathogenic" "ACMG"
"0000986756" "2" "90" "1" "94496666" "94496666" "subst" "0.000219568" "04405" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94031110G>A" "" "pathogenic" "ACMG"
"0000986757" "2" "50" "1" "94476467" "94476467" "subst" "0.0424562" "04405" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000986758" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "04405" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic" "ACMG"
"0000986759" "2" "70" "1" "94474364" "94474365" "del" "0" "04405" "ABCA4_001656" "g.94474364_94474365del" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94008808_94008809del" "" "likely pathogenic" "ACMG"
"0000986761" "2" "70" "1" "94485278" "94485278" "subst" "0.000487317" "04405" "ABCA4_000101" "g.94485278C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "carries likely causative variants in more than one gene" "Germline" "" "" "0" "" "" "g.94019722C>T" "" "likely pathogenic" "ACMG"
"0000986763" "2" "90" "1" "94471056" "94471056" "subst" "2.84398E-5" "04405" "ABCA4_000050" "g.94471056G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94005500G>A" "" "pathogenic" "ACMG"
"0000986764" "2" "90" "1" "94476842" "94476842" "subst" "2.43764E-5" "04405" "ABCA4_001682" "g.94476842C>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.5560G>T(;)5882G>A" "" "Germline" "" "" "0" "" "" "g.94011286C>A" "" "pathogenic" "ACMG"
"0000986765" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "04405" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.5560G>T(;)5882G>A" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic" "ACMG"
"0000986766" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "04405" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic" "ACMG"
"0000986767" "2" "90" "1" "94496509" "94496509" "subst" "0.00475243" "04405" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.[4253+43G>A;5882G>A]" "" "Germline" "" "" "0" "" "" "g.94030953C>T" "" "pathogenic" "ACMG"
"0000986768" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "04405" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.[4253+43G>A;5882G>A]" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic" "ACMG"
"0000986769" "2" "90" "1" "94473253" "94473253" "subst" "0" "04405" "ABCA4_001636" "g.94473253G>C" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94007697G>C" "" "pathogenic" "ACMG"
"0000986770" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "04405" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic" "ACMG"
"0000986771" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "04405" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.[1622T>C;3113C>T]" "" "Germline" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic" "ACMG"
"0000986772" "2" "50" "1" "94476467" "94476467" "subst" "0.0424562" "04405" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000986773" "2" "50" "1" "94476467" "94476467" "subst" "0.0424562" "04405" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000986774" "2" "90" "1" "94517254" "94517254" "subst" "0.00442654" "04405" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.2588G>C(;)5603A>T(;)5935A>G" "" "Germline" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic" "ACMG"
"0000986775" "0" "90" "1" "94476467" "94476467" "subst" "0.0424562" "04405" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.2588G>C(;)5603A>T(;)5935A>G" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "pathogenic" "ACMG"
"0000986776" "0" "90" "1" "94473260" "94473260" "subst" "0" "04405" "ABCA4_002861" "g.94473260T>C" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.2588G>C(;)5603A>T(;)5935A>G" "" "Germline" "" "" "0" "" "" "g.94007704T>C" "" "pathogenic" "ACMG"
"0000986777" "0" "90" "1" "94549781" "94549781" "subst" "0" "04405" "ABCA4_001046" "g.94549781G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.67-2A>G(;)769-784C>T" "" "Germline" "" "" "0" "" "" "g.94084225G>A" "" "pathogenic" "ACMG"
"0000986778" "2" "90" "1" "94496666" "94496666" "subst" "0.000219568" "04405" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94031110G>A" "" "pathogenic" "ACMG"
"0000986779" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "04405" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.1622T>C(;)3113C>T" "" "Germline" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic" "ACMG"
"0000986780" "2" "90" "1" "94473218" "94473218" "del" "0" "04405" "ABCA4_002860" "g.94473218del" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94007662del" "" "pathogenic" "ACMG"
"0000986781" "2" "70" "1" "94496509" "94496509" "subst" "0.00475243" "04405" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94030953C>T" "" "likely pathogenic" "ACMG"
"0000986782" "2" "70" "1" "94496029" "94496029" "subst" "0" "04405" "ABCA4_001829" "g.94496029T>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94030473T>A" "" "likely pathogenic" "ACMG"
"0000986783" "2" "90" "1" "94476351" "94476351" "subst" "0.000296608" "04405" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94010795C>T" "" "pathogenic" "ACMG"
"0000986784" "2" "90" "1" "94471056" "94471056" "subst" "2.84398E-5" "04405" "ABCA4_000050" "g.94471056G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.6088C>T(;)6415C>T" "" "Germline" "" "" "0" "" "" "g.94005500G>A" "" "pathogenic" "ACMG"
"0000986785" "0" "90" "1" "94466456" "94466456" "subst" "8.1217E-6" "04405" "ABCA4_000181" "g.94466456G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.6088C>T(;)6415C>T" "" "Germline" "" "" "0" "" "" "g.94000900G>A" "" "pathogenic" "ACMG"
"0000986786" "2" "90" "1" "94528806" "94528806" "subst" "0.000150298" "04405" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.1622T>C(;)3113C>T" "" "Germline" "" "" "0" "" "" "g.94063250A>G" "" "pathogenic" "ACMG"
"0000986787" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "04405" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.1622T>C(;)3113C>T" "" "Germline" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic" "ACMG"
"0000986788" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "04405" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic" "ACMG"
"0000986789" "1" "90" "1" "94467413" "94467413" "subst" "8.12612E-6" "04405" "ABCA4_000131" "g.94467413C>G" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.[5603A>T;6282+1G>C]" "" "Germline" "" "" "0" "" "" "g.94001857C>G" "" "pathogenic" "ACMG"
"0000986790" "2" "90" "1" "94476467" "94476467" "subst" "0.0424562" "04405" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.[5603A>T;6282+1G>C]" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "pathogenic" "ACMG"
"0000986791" "2" "90" "1" "94467413" "94467413" "subst" "8.12612E-6" "04405" "ABCA4_000131" "g.94467413C>G" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.[5603A>T;6282+1G>C]" "" "Germline" "" "" "0" "" "" "g.94001857C>G" "" "pathogenic" "ACMG"
"0000986792" "2" "90" "1" "94476467" "94476467" "subst" "0.0424562" "04405" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.5603A>T(;)5882G>A" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "pathogenic" "ACMG"
"0000986793" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "04405" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.5603A>T(;)5882G>A" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic" "ACMG"
"0000986794" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "04405" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.1622T>C(;)3113C>T" "" "Germline" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic" "ACMG"
"0000986795" "2" "50" "1" "94476467" "94476467" "subst" "0.0424562" "04405" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000986796" "2" "90" "1" "94495186" "94495186" "subst" "0" "04405" "ABCA4_001817" "g.94495186C>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94029630C>A" "" "pathogenic" "ACMG"
"0000986797" "0" "90" "1" "94564531" "94564531" "subst" "8.3561E-6" "04405" "ABCA4_000986" "g.94564531G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.160T>G(;)587C>T" "" "Germline" "" "" "0" "" "" "g.94098975G>A" "" "pathogenic" "ACMG"
"0000986798" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "04405" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic" "ACMG"
"0000986799" "2" "90" "1" "94528806" "94528806" "subst" "0.000150298" "04405" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.1622T>C(;)3113C>T" "" "Germline" "" "" "0" "" "" "g.94063250A>G" "" "pathogenic" "ACMG"
"0000986800" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "04405" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.1622T>C(;)3113C>T" "" "Germline" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic" "ACMG"
"0000986801" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "04405" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic" "ACMG"
"0000986802" "2" "50" "1" "94476467" "94476467" "subst" "0.0424562" "04405" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000986803" "2" "90" "1" "94495083" "94495083" "subst" "0.000124542" "04405" "ABCA4_000542" "g.94495083G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.4457C>T(;)5603A>T" "" "Germline" "" "" "0" "" "" "g.94029527G>A" "" "pathogenic" "ACMG"
"0000986804" "0" "90" "1" "94476467" "94476467" "subst" "0.0424562" "04405" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.4457C>T(;)5603A>T" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "pathogenic" "ACMG"
"0000986805" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "04405" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic" "ACMG"
"0000986806" "2" "90" "1" "94486895" "94486895" "subst" "3.24923E-5" "04405" "ABCA4_000484" "g.94486895C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94021339C>T" "" "pathogenic" "ACMG"
"0000986807" "2" "50" "1" "94463701" "94463701" "subst" "0" "04405" "ABCA4_002548" "g.94463701T>C" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.93998145T>C" "" "VUS" "ACMG"
"0000986808" "1" "90" "1" "94466624" "94466624" "subst" "0.0014345" "04405" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.[3322C>T;6320G>A]" "" "Germline" "" "" "0" "" "" "g.94001068C>T" "" "pathogenic" "ACMG"
"0000986809" "2" "70" "1" "94484082" "94484082" "subst" "0" "04405" "ABCA4_000028" "g.94484082T>C" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94018526T>C" "" "likely pathogenic" "ACMG"
"0000986810" "2" "90" "1" "94484001" "94484001" "subst" "0" "04405" "ABCA4_000016" "g.94484001C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94018445C>T" "" "pathogenic" "ACMG"
"0000986811" "2" "70" "1" "94476487" "94476487" "subst" "0" "04405" "ABCA4_002862" "g.94476487T>G" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94010931T>G" "" "likely pathogenic" "ACMG"
"0000986812" "2" "70" "1" "94480164" "94480164" "subst" "0" "04405" "ABCA4_000440" "g.94480164T>C" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94014608T>C" "" "likely pathogenic" "ACMG"
"0000986813" "2" "70" "1" "94496509" "94496509" "subst" "0.00475243" "04405" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94030953C>T" "" "likely pathogenic" "ACMG"
"0000986814" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "04405" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic" "ACMG"
"0000986815" "2" "90" "1" "94476467" "94476467" "subst" "0.0424562" "04405" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.5603A>T(;)[6453G>T;6455G>T]" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "pathogenic" "ACMG"
"0000986816" "0" "90" "1" "94466418" "94466418" "subst" "0" "04405" "ABCA4_002858" "g.94466418C>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.5603A>T(;)[6453G>T;6455G>T]" "" "Germline" "" "" "0" "" "" "g.94000862C>A" "" "pathogenic" "ACMG"
"0000986817" "2" "90" "1" "94466416" "94466416" "subst" "0" "04405" "ABCA4_001572" "g.94466416C>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.5603A>T(;)[6453G>T;6455G>T]" "" "Germline" "" "" "0" "" "" "g.94000860C>A" "" "pathogenic" "ACMG"
"0000986818" "2" "90" "1" "94471055" "94471055" "subst" "0.00035346" "04405" "ABCA4_000029" "g.94471055C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94005499C>T" "" "pathogenic" "ACMG"
"0000986819" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "04405" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic" "ACMG"
"0000986820" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "04405" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.1622T>C(;)3113C>T" "" "Germline" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic" "ACMG"
"0000986821" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "04405" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic" "ACMG"
"0000986822" "2" "50" "1" "94480230" "94480230" "subst" "6.09177E-5" "04405" "ABCA4_001053" "g.94480230T>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.5329A>T(;)5603A>T" "" "Germline" "" "" "0" "" "" "g.94014674T>A" "" "VUS" "ACMG"
"0000986823" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "04405" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.5329A>T(;)5603A>T" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000986824" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "04405" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic" "ACMG"
"0000986825" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "04405" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.[1622T>C;3113C>T]" "" "Germline" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic" "ACMG"
"0000986826" "2" "90" "1" "94528806" "94528806" "subst" "0.000150298" "04405" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.[1622T>C;3113C>T]" "" "Germline" "" "" "0" "" "" "g.94063250A>G" "" "pathogenic" "ACMG"
"0000986827" "2" "90" "1" "94508969" "94508969" "subst" "0.00168642" "04405" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.[1622T>C;3113C>T]" "" "Germline" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic" "ACMG"
"0000986828" "2" "70" "1" "94508902" "94508902" "del" "0" "04405" "ABCA4_002868" "g.94508902del" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94043346del" "" "likely pathogenic" "ACMG"
"0000986829" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "04405" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.1622T>C(;)3113C>T" "" "Germline" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic" "ACMG"
"0000986830" "2" "90" "1" "94496571" "94496571" "subst" "4.06174E-6" "04405" "ABCA4_000111" "g.94496571G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94031015G>A" "" "pathogenic" "ACMG"
"0000986831" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "04405" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.1622T>C(;)3113C>T" "carries likely causative variants in more than one gene" "Germline" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic" "ACMG"
"0000986833" "2" "90" "1" "94487490" "94487490" "subst" "0.00122268" "04405" "ABCA4_000506" "g.94487490A>G" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "carries likely causative variants in more than one gene" "Germline" "" "" "0" "" "" "g.94021934A>G" "" "pathogenic" "ACMG"
"0000986834" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "04405" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.1622T>C(;)3113C>T" "carries likely causative variants in more than one gene" "Germline" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic" "ACMG"
"0000986836" "2" "90" "1" "94487490" "94487490" "subst" "0.00122268" "04405" "ABCA4_000506" "g.94487490A>G" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "carries likely causative variants in more than one gene" "Germline" "" "" "0" "" "" "g.94021934A>G" "" "pathogenic" "ACMG"
"0000986837" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "04405" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.1622T>C(;)3113C>T" "" "Germline" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic" "ACMG"
"0000986838" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "04405" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic" "ACMG"
"0000986839" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "04405" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic" "ACMG"
"0000986840" "2" "90" "1" "94473298" "94473298" "del" "0" "04405" "ABCA4_000396" "g.94473298del" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94007742del" "" "pathogenic" "ACMG"
"0000986841" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "04405" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.1622T>C(;)3113C>T" "" "Germline" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic" "ACMG"
"0000986842" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "04405" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic" "ACMG"
"0000986843" "0" "90" "1" "94476467" "94476467" "subst" "0.0424562" "04405" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.5018+5G>A(;)5603A>T" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "pathogenic" "ACMG"
"0000986844" "2" "90" "1" "94512499" "94512499" "subst" "0.000130029" "04405" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94046943T>C" "" "pathogenic" "ACMG"
"0000986845" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "04405" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.1622T>C(;)3113C>T" "" "Germline" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic" "ACMG"
"0000986846" "2" "90" "1" "94490550" "94490550" "subst" "0.000105588" "04405" "ABCA4_000523" "g.94490550C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.4594G>A(;)5603A>T" "" "Germline" "" "" "0" "" "" "g.94024994C>T" "" "pathogenic" "ACMG"
"0000986847" "0" "90" "1" "94476467" "94476467" "subst" "0.0424562" "04405" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.4594G>A(;)5603A>T" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "pathogenic" "ACMG"
"0000986848" "2" "70" "1" "94528137" "94528137" "subst" "3.2538E-5" "04405" "ABCA4_002067" "g.94528137C>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94062581C>A" "" "likely pathogenic" "ACMG"
"0000986849" "2" "90" "1" "94517254" "94517254" "subst" "0.00442654" "04405" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.2588G>C(;)5603A>T" "" "Germline" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic" "ACMG"
"0000986850" "0" "90" "1" "94476467" "94476467" "subst" "0.0424562" "04405" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.2588G>C(;)5603A>T" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "pathogenic" "ACMG"
"0000986851" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "04405" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.1622T>C(;)3113C>T" "" "Germline" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic" "ACMG"
"0000986852" "2" "90" "1" "94471055" "94471055" "subst" "0.00035346" "04405" "ABCA4_000029" "g.94471055C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94005499C>T" "" "pathogenic" "ACMG"
"0000986853" "2" "90" "1" "94476951" "94476951" "subst" "0.000236097" "04405" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.5461-10T>C(;)5603A>T" "" "Germline" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic" "ACMG"
"0000986854" "0" "90" "1" "94476467" "94476467" "subst" "0.0424562" "04405" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.5461-10T>C(;)5603A>T" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "pathogenic" "ACMG"
"0000986855" "0" "90" "1" "94476467" "94476467" "subst" "0.0424562" "04405" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.2588G>C(;)5603A>T" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "pathogenic" "ACMG"
"0000986856" "2" "90" "1" "94495000" "94495000" "subst" "0" "04405" "ABCA4_000164" "g.94495000C>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94029444C>A" "" "pathogenic" "ACMG"
"0000986857" "2" "90" "1" "94471055" "94471055" "subst" "0.00035346" "04405" "ABCA4_000029" "g.94471055C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94005499C>T" "" "pathogenic" "ACMG"
"0000986859" "2" "50" "1" "94476467" "94476467" "subst" "0.0424562" "04405" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "carries likely causative variants in more than one gene" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000986861" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "04405" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic" "ACMG"
"0000986862" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "04405" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic" "ACMG"
"0000986863" "2" "90" "1" "94476351" "94476351" "subst" "0.000296608" "04405" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94010795C>T" "" "pathogenic" "ACMG"
"0000986864" "1" "90" "1" "94517254" "94517254" "subst" "0.00442654" "04405" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.[656G>C;2588G>C;5603A>T]" "" "Germline" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic" "ACMG"
"0000986865" "1" "90" "1" "94476467" "94476467" "subst" "0.0424562" "04405" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.[656G>C;2588G>C;5603A>T]" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "pathogenic" "ACMG"
"0000986866" "2" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "04405" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic" "ACMG"
"0000986867" "0" "90" "1" "94546207" "94546207" "subst" "0.000101665" "04405" "ABCA4_000083" "g.94546207G>C" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.294C>G(;)926C>G" "" "Germline" "" "" "0" "" "" "g.94080651G>C" "" "pathogenic" "ACMG"
"0000986868" "2" "90" "1" "94476351" "94476351" "subst" "0.000296608" "04405" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94010795C>T" "" "pathogenic" "ACMG"
"0000986869" "1" "90" "1" "94517254" "94517254" "subst" "0.00442654" "04405" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.[656G>C;2588G>C;5603A>T]" "" "Germline" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic" "ACMG"
"0000986870" "1" "90" "1" "94476467" "94476467" "subst" "0.0424562" "04405" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.[656G>C;2588G>C;5603A>T]" "" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "pathogenic" "ACMG"
"0000986871" "2" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "04405" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic" "ACMG"
"0000986969" "1" "70" "1" "94486939" "94486939" "subst" "0" "00006" "ABCA4_001211" "g.94486939A>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94021383A>T" "" "likely pathogenic" "ACMG"
"0000986970" "2" "90" "1" "94473807" "94473807" "subst" "0.00480453" "00006" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic" "ACMG"
"0000986971" "1" "30" "1" "94459477" "94459477" "subst" "0" "00006" "ABCA4_002857" "g.94459477G>C" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "no effect on spicing in vitro mini-gene splicing assay" "Germline" "" "" "0" "" "" "g.93993921G>C" "" "likely benign" "ACMG"
"0000986972" "0" "70" "1" "94492973" "94492973" "subst" "0" "00006" "ABCA4_000030" "g.94492973G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.94027417G>A" "" "VUS" "ACMG"
"0000986978" "1" "90" "1" "94476951" "94476951" "subst" "0.000236097" "00006" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.5461-10T>C(;)5603A>T" "case unsolved" "Germline" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic" "ACMG"
"0000986979" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "00006" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic" "ACMG"
"0000986981" "0" "90" "1" "94471067" "94471067" "subst" "4.06237E-6" "00006" "ABCA4_001001" "g.94471067A>G" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94005511A>G" "" "pathogenic" "ACMG"
"0000986982" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "00006" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000986983" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "00006" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000986984" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "00006" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000986985" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "00006" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic" "ACMG"
"0000986986" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "00006" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000986987" "1" "70" "1" "94517254" "94517254" "subst" "0.00442654" "00006" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.[2588G>C;3289A>T;5603A>T]" "case unsolved" "Germline" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic" "ACMG"
"0000986988" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "00006" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000986989" "1" "90" "1" "94476951" "94476951" "subst" "0.000236097" "00006" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.[5461-10T>C;5603A>T]" "case unsolved" "Germline" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic" "ACMG"
"0000986990" "1" "90" "1" "94476951" "94476951" "subst" "0.000236097" "00006" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.[5461-10T>C;5603A>T]" "case unsolved" "Germline" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic" "ACMG"
"0000986991" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "00006" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000986992" "0" "90" "1" "94496571" "94496571" "subst" "4.06174E-6" "00006" "ABCA4_000111" "g.94496571G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94031015G>A" "" "pathogenic" "ACMG"
"0000986994" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "00006" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000986995" "1" "90" "1" "94476951" "94476951" "subst" "0.000236097" "00006" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.5461-10T>C(;)5603A>T" "case unsolved" "Germline" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic" "ACMG"
"0000986996" "0" "70" "1" "94496509" "94496509" "subst" "0.00475243" "00006" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94030953C>T" "" "likely pathogenic" "ACMG"
"0000986997" "1" "70" "1" "94495077" "94495077" "subst" "0" "00006" "ABCA4_000184" "g.94495077C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.[4463G>A;5603A>T]" "case unsolved" "Germline" "" "" "0" "" "" "g.94029521C>T" "" "likely pathogenic" "ACMG"
"0000986998" "1" "70" "1" "94495071" "94495071" "subst" "6.39479E-5" "00006" "ABCA4_000997" "g.94495071C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.[4469G>A;5603A>T]" "case unsolved" "Germline" "" "" "0" "" "" "g.94029515C>T" "" "likely pathogenic" "ACMG"
"0000986999" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "00006" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000987000" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "00006" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000987002" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "00006" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic" "ACMG"
"0000987004" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "00006" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000987007" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "00006" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000987009" "0" "70" "1" "94476853" "94476853" "subst" "4.06243E-6" "00006" "ABCA4_000429" "g.94476853A>G" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94011297A>G" "" "likely pathogenic" "ACMG"
"0000987013" "0" "90" "1" "94528132" "94528132" "subst" "4.06835E-6" "00006" "ABCA4_000773" "g.94528132C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94062576C>T" "" "pathogenic" "ACMG"
"0000987014" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "00006" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic" "ACMG"
"0000987015" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "00006" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000987016" "0" "70" "1" "94496548" "94496548" "subst" "2.43787E-5" "00006" "ABCA4_000088" "g.94496548G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94030992G>A" "" "likely pathogenic" "ACMG"
"0000987017" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "00006" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000987018" "0" "50" "1" "94549781" "94549781" "subst" "0" "00006" "ABCA4_001046" "g.94549781G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94084225G>A" "" "VUS" "ACMG"
"0000987019" "1" "90" "1" "94546185" "94546185" "del" "0" "00006" "ABCA4_000350" "g.94546185del" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.[950delG;5603A>T;6148G>C]" "case unsolved" "Germline" "" "" "0" "" "" "g.94080629del" "" "pathogenic" "ACMG"
"0000987020" "0" "70" "1" "94496509" "94496509" "subst" "0.00475243" "00006" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94030953C>T" "" "likely pathogenic" "ACMG"
"0000987021" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "00006" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000987022" "0" "90" "1" "94471055" "94471055" "subst" "0.00035346" "00006" "ABCA4_000029" "g.94471055C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94005499C>T" "" "pathogenic" "ACMG"
"0000987023" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "00006" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic" "ACMG"
"0000987025" "0" "90" "1" "94476351" "94476351" "subst" "0.000296608" "00006" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94010795C>T" "" "pathogenic" "ACMG"
"0000987026" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "00006" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000987027" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "00006" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000987028" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "00006" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000987029" "0" "90" "1" "94466628" "94466628" "subst" "0.000109748" "00006" "ABCA4_000094" "g.94466628G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94001072G>A" "" "pathogenic" "ACMG"
"0000987030" "1" "90" "1" "94546118" "94546118" "subst" "8.13326E-6" "00006" "ABCA4_000082" "g.94546118A>C" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.[1015T>G;5603A>T]" "case unsolved" "Germline" "" "" "0" "" "" "g.94080562A>C" "" "pathogenic" "ACMG"
"0000987031" "0" "90" "1" "94546118" "94546118" "subst" "8.13326E-6" "00006" "ABCA4_000082" "g.94546118A>C" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94080562A>C" "" "pathogenic" "ACMG"
"0000987032" "1" "90" "1" "94546118" "94546118" "subst" "8.13326E-6" "00006" "ABCA4_000082" "g.94546118A>C" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.[1015T>G;5603A>T]" "case unsolved" "Germline" "" "" "0" "" "" "g.94080562A>C" "" "pathogenic" "ACMG"
"0000987033" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "00006" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000987035" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "00006" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000987036" "0" "70" "1" "94471037" "94471037" "subst" "0" "00006" "ABCA4_001062" "g.94471037T>C" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94005481T>C" "" "likely pathogenic" "ACMG"
"0000987037" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "00006" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000987039" "1" "90" "1" "94508435" "94508436" "dup" "0" "00006" "ABCA4_000998" "g.94508435_94508436dup" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.[3210_3211dup;5603A>T]" "case unsolved" "Germline" "" "" "0" "" "" "g.94042879_94042880dup" "" "pathogenic" "ACMG"
"0000987040" "0" "70" "1" "94502848" "94502848" "dup" "0" "00006" "ABCA4_001085" "g.94502848dup" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94037292dup" "" "likely pathogenic" "ACMG"
"0000987041" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "00006" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000987042" "0" "70" "1" "94463428" "94463428" "subst" "1.62621E-5" "00006" "ABCA4_000854" "g.94463428T>C" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.93997872T>C" "" "likely pathogenic" "ACMG"
"0000987043" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "00006" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic" "ACMG"
"0000987044" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "00006" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000987045" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "00006" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000987047" "0" "90" "1" "94485257" "94485257" "subst" "0.00017945" "00006" "ABCA4_000100" "g.94485257C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94019701C>T" "" "pathogenic" "ACMG"
"0000987048" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "00006" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000987049" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "00006" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic" "ACMG"
"0000987050" "0" "70" "1" "94474323" "94474323" "subst" "2.03034E-5" "00006" "ABCA4_000156" "g.94474323A>G" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94008767A>G" "" "likely pathogenic" "ACMG"
"0000987051" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "00006" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000987052" "0" "70" "1" "94586600" "94586600" "subst" "0" "00006" "ABCA4_000263" "g.94586600A>G" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94121044A>G" "" "likely pathogenic" "ACMG"
"0000987053" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "00006" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic" "ACMG"
"0000987054" "0" "70" "1" "94543269" "94543269" "subst" "0.000179087" "00006" "ABCA4_000307" "g.94543269G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94077713G>A" "" "likely pathogenic" "ACMG"
"0000987055" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "00006" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94062710G>A" "" "pathogenic" "ACMG"
"0000987056" "1" "70" "1" "94517254" "94517254" "subst" "0.00442654" "00006" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.[2588G>C;5603A>T]" "case unsolved" "Germline" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic" "ACMG"
"0000987057" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "00006" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic" "ACMG"
"0000987058" "0" "90" "1" "94568687" "94568687" "subst" "1.62641E-5" "00006" "ABCA4_000024" "g.94568687G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94103131G>A" "" "pathogenic" "ACMG"
"0000987059" "0" "90" "1" "94495000" "94495188" "del" "0" "00006" "ABCA4_002656" "g.(94490605_94495000)_(94495188_94495983)del" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG"
"0000987062" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "00006" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic" "ACMG"
"0000987063" "1" "70" "1" "94517254" "94517254" "subst" "0.00442654" "00006" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.[2588G>C;4539+2064C>T]" "case unsolved" "Germline" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic" "ACMG"
"0000987064" "0" "90" "1" "94506923" "94506923" "subst" "2.43657E-5" "00006" "ABCA4_000012" "g.94506923C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94041367C>T" "" "pathogenic" "ACMG"
"0000987070" "0" "90" "1" "94476351" "94476351" "subst" "0.000296608" "00006" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94010795C>T" "" "pathogenic" "ACMG"
"0000987071" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "00006" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000987072" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "00006" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic" "ACMG"
"0000987073" "0" "90" "1" "94496571" "94496571" "subst" "4.06174E-6" "00006" "ABCA4_000111" "g.94496571G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94031015G>A" "" "pathogenic" "ACMG"
"0000987074" "0" "70" "1" "94466624" "94466624" "subst" "0" "00006" "ABCA4_000838" "g.94466624C>G" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94001068C>G" "" "likely pathogenic" "ACMG"
"0000987075" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "00006" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic" "ACMG"
"0000987076" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "00006" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000987077" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "00006" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic" "ACMG"
"0000987078" "0" "90" "1" "94495083" "94495083" "subst" "0.000124542" "00006" "ABCA4_000542" "g.94495083G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94029527G>A" "" "pathogenic" "ACMG"
"0000987079" "1" "90" "1" "94476951" "94476951" "subst" "0.000236097" "00006" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.[5461-10T>C;5603A>T]" "case unsolved" "Germline" "" "" "0" "" "" "g.94011395A>G" "" "pathogenic" "ACMG"
"0000987080" "1" "70" "1" "94517254" "94517254" "subst" "0.00442654" "00006" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.[2588G>C;5603A>T]" "case unsolved" "Germline" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic" "ACMG"
"0000987081" "1" "70" "1" "94517254" "94517254" "subst" "0.00442654" "00006" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.[2588G>C;5603A>T]" "case unsolved" "Germline" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic" "ACMG"
"0000987082" "1" "70" "1" "94517254" "94517254" "subst" "0.00442654" "00006" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.[2588G>C;5603A>T]" "case unsolved" "Germline" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic" "ACMG"
"0000987083" "1" "70" "1" "94517254" "94517254" "subst" "0.00442654" "00006" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.[2588G>C;5603A>T]" "case unsolved" "Germline" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic" "ACMG"
"0000987084" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "00006" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000987085" "1" "70" "1" "94517254" "94517254" "subst" "0.00442654" "00006" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.[2588G>C;5603A>T]" "case unsolved" "Germline" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic" "ACMG"
"0000987086" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "00006" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000987087" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "00006" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000987088" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "00006" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000987089" "0" "90" "1" "94495000" "94495188" "del" "0" "00006" "ABCA4_002656" "g.(94490605_94495000)_(94495188_94495983)del" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG"
"0000987090" "1" "50" "1" "94508323" "94508323" "subst" "0.000125953" "00006" "ABCA4_000031" "g.94508323G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.[3322C>T;5603A>T;6320G>A]" "case unsolved" "Germline" "" "" "0" "" "" "g.94042767G>A" "" "VUS" "ACMG"
"0000987091" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "00006" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000987092" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "00006" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000987093" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "00006" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000987094" "0" "90" "1" "94471055" "94471055" "subst" "0.00035346" "00006" "ABCA4_000029" "g.94471055C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94005499C>T" "" "pathogenic" "ACMG"
"0000987095" "0" "90" "1" "94480098" "94480098" "subst" "0" "00006" "ABCA4_000437" "g.94480098C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94014542C>T" "" "pathogenic" "ACMG"
"0000987096" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "00006" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000987097" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "00006" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic" "ACMG"
"0000987098" "0" "90" "1" "94496666" "94496666" "subst" "0.000219568" "00006" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94031110G>A" "" "pathogenic" "ACMG"
"0000987100" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "00006" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000987101" "0" "70" "1" "94463554" "94463554" "subst" "0" "00006" "ABCA4_001485" "g.94463554G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.93997998G>A" "" "likely pathogenic" "ACMG"
"0000987103" "0" "90" "1" "94510178" "94510178" "subst" "0" "00006" "ABCA4_000664" "g.94510178A>C" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94044622A>C" "" "pathogenic" "ACMG"
"0000987104" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "00006" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000987105" "0" "90" "1" "94495000" "94495188" "del" "0" "00006" "ABCA4_002656" "g.(94490605_94495000)_(94495188_94495983)del" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG"
"0000987106" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "00006" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000987107" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "00006" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000987109" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "00006" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic" "ACMG"
"0000987110" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "00006" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000987111" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "00006" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000987112" "0" "90" "1" "94495009" "94495009" "dup" "0" "00006" "ABCA4_000087" "g.94495009dup" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94029453dup" "" "pathogenic" "ACMG"
"0000987113" "0" "70" "1" "94496509" "94496509" "subst" "0.00475243" "00006" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94030953C>T" "" "likely pathogenic" "ACMG"
"0000987114" "0" "90" "1" "94508969" "94508969" "subst" "0.00168642" "00006" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic" "ACMG"
"0000987115" "0" "90" "1" "94486794" "94486794" "subst" "0" "00006" "ABCA4_000479" "g.94486794A>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94021238A>T" "" "pathogenic" "ACMG"
"0000987116" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "00006" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000987117" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "00006" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic" "ACMG"
"0000987118" "0" "90" "1" "94526296" "94526296" "subst" "1.64555E-5" "00006" "ABCA4_000768" "g.94526296G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94060740G>A" "" "pathogenic" "ACMG"
"0000987119" "0" "90" "1" "94528871" "94528871" "subst" "0" "00006" "ABCA4_001410" "g.94528871G>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94063315G>T" "" "pathogenic" "ACMG"
"0000987120" "0" "90" "1" "94526296" "94526296" "subst" "1.64555E-5" "00006" "ABCA4_000768" "g.94526296G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94060740G>A" "" "pathogenic" "ACMG"
"0000987121" "0" "90" "1" "94466426" "94466426" "subst" "1.62433E-5" "00006" "ABCA4_000124" "g.94466426G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94000870G>A" "" "pathogenic" "ACMG"
"0000987122" "0" "70" "1" "94574147" "94574147" "subst" "8.12236E-6" "00006" "ABCA4_000213" "g.94574147G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94108591G>A" "" "likely pathogenic" "ACMG"
"0000987123" "0" "90" "1" "94522248" "94522248" "subst" "0" "00006" "ABCA4_000741" "g.94522248C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94056692C>T" "" "pathogenic" "ACMG"
"0000987124" "0" "90" "1" "94471055" "94471055" "subst" "0.00035346" "00006" "ABCA4_000029" "g.94471055C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94005499C>T" "" "pathogenic" "ACMG"
"0000987125" "0" "70" "1" "94574147" "94574147" "subst" "8.12236E-6" "00006" "ABCA4_000213" "g.94574147G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94108591G>A" "" "likely pathogenic" "ACMG"
"0000987126" "0" "90" "1" "94495009" "94495009" "dup" "0" "00006" "ABCA4_000087" "g.94495009dup" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94029453dup" "" "pathogenic" "ACMG"
"0000987127" "0" "90" "1" "94484001" "94484001" "subst" "0" "00006" "ABCA4_000016" "g.94484001C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94018445C>T" "" "pathogenic" "ACMG"
"0000987128" "0" "90" "1" "94490550" "94490550" "subst" "0.000105588" "00006" "ABCA4_000523" "g.94490550C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94024994C>T" "" "pathogenic" "ACMG"
"0000987129" "0" "90" "1" "94485257" "94485257" "subst" "0.00017945" "00006" "ABCA4_000100" "g.94485257C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94019701C>T" "" "pathogenic" "ACMG"
"0000987130" "0" "90" "1" "94496666" "94496666" "subst" "0.000219568" "00006" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94031110G>A" "" "pathogenic" "ACMG"
"0000987131" "0" "90" "1" "94526296" "94526296" "subst" "1.64555E-5" "00006" "ABCA4_000768" "g.94526296G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94060740G>A" "" "pathogenic" "ACMG"
"0000987132" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "00006" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic" "ACMG"
"0000987133" "0" "90" "1" "94546118" "94546118" "subst" "8.13326E-6" "00006" "ABCA4_000082" "g.94546118A>C" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94080562A>C" "" "pathogenic" "ACMG"
"0000987134" "0" "90" "1" "94495021" "94495021" "subst" "0.000161713" "00006" "ABCA4_000538" "g.94495021C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94029465C>T" "" "pathogenic" "ACMG"
"0000987135" "0" "90" "1" "94471055" "94471055" "subst" "0.00035346" "00006" "ABCA4_000029" "g.94471055C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94005499C>T" "" "pathogenic" "ACMG"
"0000987136" "0" "30" "1" "94528818" "94528818" "subst" "0.00205975" "00006" "ABCA4_001239" "g.94528818C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94063262C>T" "" "likely benign" "ACMG"
"0000987137" "0" "90" "1" "94471065" "94471065" "subst" "0.000194997" "00006" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94005509G>A" "" "pathogenic" "ACMG"
"0000987138" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "00006" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic" "ACMG"
"0000987139" "0" "30" "1" "94528818" "94528818" "subst" "0.00205975" "00006" "ABCA4_001239" "g.94528818C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94063262C>T" "" "likely benign" "ACMG"
"0000987140" "0" "90" "1" "94467467" "94467467" "subst" "4.06164E-6" "00006" "ABCA4_000780" "g.94467467G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94001911G>A" "" "pathogenic" "ACMG"
"0000987141" "0" "90" "1" "94512499" "94512499" "subst" "0.000130029" "00006" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94046943T>C" "" "pathogenic" "ACMG"
"0000987142" "0" "90" "1" "94512499" "94512499" "subst" "0.000130029" "00006" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94046943T>C" "" "pathogenic" "ACMG"
"0000987143" "0" "90" "1" "94496571" "94496571" "subst" "4.06174E-6" "00006" "ABCA4_000111" "g.94496571G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94031015G>A" "" "pathogenic" "ACMG"
"0000987144" "0" "90" "1" "94512499" "94512499" "subst" "0.000130029" "00006" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94046943T>C" "" "pathogenic" "ACMG"
"0000987145" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "00006" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic" "ACMG"
"0000987146" "0" "90" "1" "94466624" "94466624" "subst" "0.0014345" "00006" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94001068C>T" "" "pathogenic" "ACMG"
"0000987147" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "00006" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic" "ACMG"
"0000987148" "0" "90" "1" "94546151" "94546151" "subst" "4.06855E-6" "00006" "ABCA4_000347" "g.94546151C>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94080595C>A" "" "pathogenic" "ACMG"
"0000987153" "0" "50" "1" "94549781" "94549781" "subst" "0" "00006" "ABCA4_001046" "g.94549781G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94084225G>A" "" "VUS" "ACMG"
"0000987155" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "00006" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000987158" "0" "90" "1" "94564484" "94564484" "subst" "0.000110199" "00006" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94098928G>A" "" "pathogenic" "ACMG"
"0000987159" "0" "90" "1" "94564484" "94564484" "subst" "0.000110199" "00006" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94098928G>A" "" "pathogenic" "ACMG"
"0000987162" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "00006" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000987165" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "00006" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000987166" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "00006" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000987168" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "00006" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000987171" "0" "50" "1" "94549781" "94549781" "subst" "0" "00006" "ABCA4_001046" "g.94549781G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94084225G>A" "" "VUS" "ACMG"
"0000987174" "0" "70" "1" "94496509" "94496509" "subst" "0.00475243" "00006" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94030953C>T" "" "likely pathogenic" "ACMG"
"0000987175" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "00006" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000987176" "0" "90" "1" "94496666" "94496666" "subst" "0.000219568" "00006" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94031110G>A" "" "pathogenic" "ACMG"
"0000987178" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "00006" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000987179" "0" "90" "1" "94486794" "94486794" "subst" "0" "00006" "ABCA4_000479" "g.94486794A>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94021238A>T" "" "pathogenic" "ACMG"
"0000987180" "0" "90" "1" "94471055" "94471055" "subst" "0.00035346" "00006" "ABCA4_000029" "g.94471055C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94005499C>T" "" "pathogenic" "ACMG"
"0000987181" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "00006" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000987182" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "00006" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000987183" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "00006" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000987184" "0" "90" "1" "94496666" "94496666" "subst" "0.000219568" "00006" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94031110G>A" "" "pathogenic" "ACMG"
"0000987186" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "00006" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic" "ACMG"
"0000987187" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "00006" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic" "ACMG"
"0000987188" "0" "50" "1" "94566773" "94566773" "subst" "0" "00006" "ABCA4_000946" "g.94566773T>C" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94101217T>C" "" "VUS" "ACMG"
"0000987189" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "00006" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic" "ACMG"
"0000987191" "0" "90" "1" "94476351" "94476351" "subst" "0.000296608" "00006" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94010795C>T" "" "pathogenic" "ACMG"
"0000987192" "0" "90" "1" "94564484" "94564484" "subst" "0.000110199" "00006" "ABCA4_000036" "g.94564484G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94098928G>A" "" "pathogenic" "ACMG"
"0000987193" "0" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "00006" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94062710G>A" "" "pathogenic" "ACMG"
"0000987194" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "00006" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000987197" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "00006" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000987198" "0" "70" "1" "94496509" "94496509" "subst" "0.00475243" "00006" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94030953C>T" "" "likely pathogenic" "ACMG"
"0000987201" "0" "90" "1" "94481294" "94481294" "subst" "0" "00006" "ABCA4_000110" "g.94481294C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94015738C>T" "" "pathogenic" "ACMG"
"0000987202" "0" "90" "1" "94508386" "94508386" "subst" "1.62443E-5" "00006" "ABCA4_000642" "g.94508386C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94042830C>T" "" "pathogenic" "ACMG"
"0000987203" "0" "50" "1" "94549781" "94549781" "subst" "0" "00006" "ABCA4_001046" "g.94549781G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94084225G>A" "" "VUS" "ACMG"
"0000987204" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "00006" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000987205" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "00006" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic" "ACMG"
"0000987207" "0" "90" "1" "94471055" "94471055" "subst" "0.00035346" "00006" "ABCA4_000029" "g.94471055C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94005499C>T" "" "pathogenic" "ACMG"
"0000987208" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "00006" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic" "ACMG"
"0000987209" "0" "70" "1" "94564432" "94564432" "subst" "0" "00006" "ABCA4_001029" "g.94564432A>G" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94098876A>G" "" "likely pathogenic" "ACMG"
"0000987210" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "00006" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000987211" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "00006" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic" "ACMG"
"0000987212" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "00006" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic" "ACMG"
"0000987213" "0" "90" "1" "94528780" "94528780" "subst" "4.06171E-6" "00006" "ABCA4_000299" "g.94528780C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94063224C>T" "" "pathogenic" "ACMG"
"0000987215" "0" "90" "1" "94486794" "94486794" "subst" "0" "00006" "ABCA4_000478" "g.94486794A>G" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94021238A>G" "" "pathogenic" "ACMG"
"0000987216" "1" "70" "1" "94517254" "94517254" "subst" "0.00442654" "00006" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.[2588G>C;5603A>T]" "case unsolved" "Germline" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic" "ACMG"
"0000987217" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "00006" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000987220" "0" "70" "1" "94485278" "94485278" "subst" "0.000487317" "00006" "ABCA4_000101" "g.94485278C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94019722C>T" "" "likely pathogenic" "ACMG"
"0000987221" "0" "90" "1" "94495083" "94495083" "subst" "0.000124542" "00006" "ABCA4_000542" "g.94495083G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94029527G>A" "" "pathogenic" "ACMG"
"0000987222" "0" "50" "1" "94549781" "94549781" "subst" "0" "00006" "ABCA4_001046" "g.94549781G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94084225G>A" "" "VUS" "ACMG"
"0000987223" "0" "90" "1" "94466624" "94466624" "subst" "0.0014345" "00006" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94001068C>T" "" "pathogenic" "ACMG"
"0000987224" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "00006" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000987225" "0" "90" "1" "94466624" "94466624" "subst" "0.0014345" "00006" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94001068C>T" "" "pathogenic" "ACMG"
"0000987227" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "00006" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000987228" "0" "90" "1" "94476351" "94476351" "subst" "0.000296608" "00006" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94010795C>T" "" "pathogenic" "ACMG"
"0000987230" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "00006" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.[1622T>C;3113C>T]" "case unsolved" "Germline" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" "ACMG"
"0000987231" "0" "90" "1" "94496666" "94496666" "subst" "0.000219568" "00006" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94031110G>A" "" "pathogenic" "ACMG"
"0000987233" "0" "90" "1" "94496571" "94496571" "subst" "4.06174E-6" "00006" "ABCA4_000111" "g.94496571G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94031015G>A" "" "pathogenic" "ACMG"
"0000987234" "0" "90" "1" "94510248" "94510248" "subst" "0.000544123" "00006" "ABCA4_000107" "g.94510248C>G" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94044692C>G" "" "pathogenic" "ACMG"
"0000987236" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "00006" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000987237" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "00006" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000987239" "0" "90" "1" "94471055" "94471055" "subst" "0.00035346" "00006" "ABCA4_000029" "g.94471055C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94005499C>T" "" "pathogenic" "ACMG"
"0000987240" "1" "90" "1" "94517254" "94517254" "subst" "0.00442654" "00006" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.2588G>C(;)5603A>T" "case unsolved" "Germline" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic" "ACMG"
"0000987242" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "00006" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000987244" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "00006" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000987248" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "00006" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic" "ACMG"
"0000987250" "0" "50" "1" "94549781" "94549781" "subst" "0" "00006" "ABCA4_001046" "g.94549781G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94084225G>A" "" "VUS" "ACMG"
"0000987251" "0" "50" "1" "94549781" "94549781" "subst" "0" "00006" "ABCA4_001046" "g.94549781G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94084225G>A" "" "VUS" "ACMG"
"0000987252" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "00006" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000987253" "0" "70" "1" "94496509" "94496509" "subst" "0.00475243" "00006" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94030953C>T" "" "likely pathogenic" "ACMG"
"0000987254" "1" "90" "1" "94495083" "94495083" "subst" "0.000124542" "00006" "ABCA4_000542" "g.94495083G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.[(4457C>T;4537dup)]" "case unsolved" "Germline" "" "" "0" "" "" "g.94029527G>A" "" "pathogenic" "ACMG"
"0000987256" "0" "90" "1" "94476351" "94476351" "subst" "0.000296608" "00006" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94010795C>T" "" "pathogenic" "ACMG"
"0000987259" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "00006" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000987260" "1" "70" "1" "94528806" "94528806" "subst" "0.000150298" "00006" "ABCA4_000020" "g.94528806A>G" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.[1622T>C;3113C>T]" "case unsolved" "Germline" "" "" "0" "" "" "g.94063250A>G" "" "likely pathogenic" "ACMG"
"0000987261" "0" "90" "1" "94496666" "94496666" "subst" "0.000219568" "00006" "ABCA4_000019" "g.94496666G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94031110G>A" "" "pathogenic" "ACMG"
"0000987262" "1" "90" "1" "94512507" "94512507" "del" "0" "00006" "ABCA4_000155" "g.94512507del" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.[2888del;5603A>T]" "case unsolved" "Germline" "" "" "0" "" "" "g.94046951del" "" "pathogenic" "ACMG"
"0000987263" "1" "70" "1" "94568581" "94568581" "subst" "3.65458E-5" "00006" "ABCA4_000202" "g.94568581C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.[560G>A;3210_3211dup;5603A>T]" "case unsolved" "Germline" "" "" "0" "" "" "g.94103025C>T" "" "likely pathogenic" "ACMG"
"0000987264" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "00006" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000987265" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "00006" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000987266" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "00006" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic" "ACMG"
"0000987267" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "00006" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic" "ACMG"
"0000987268" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "00006" "ABCA4_000054" "g.94506901C>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94041345C>A" "" "pathogenic" "ACMG"
"0000987269" "0" "70" "1" "94496509" "94496509" "subst" "0.00475243" "00006" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94030953C>T" "" "likely pathogenic" "ACMG"
"0000987270" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "00006" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000987271" "0" "90" "1" "94510248" "94510248" "subst" "0.000544123" "00006" "ABCA4_000107" "g.94510248C>G" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94044692C>G" "" "pathogenic" "ACMG"
"0000987272" "0" "70" "1" "94496509" "94496509" "subst" "0.00475243" "00006" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94030953C>T" "" "likely pathogenic" "ACMG"
"0000987273" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "00006" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic" "ACMG"
"0000987274" "0" "90" "1" "94476351" "94476351" "subst" "0.000296608" "00006" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94010795C>T" "" "pathogenic" "ACMG"
"0000987275" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "00006" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic" "ACMG"
"0000987279" "0" "90" "1" "94512602" "94512602" "subst" "0.000369717" "00006" "ABCA4_000052" "g.94512602C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94047046C>T" "" "pathogenic" "ACMG"
"0000987284" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "00006" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000987285" "0" "50" "1" "94508353" "94508353" "subst" "2.8431E-5" "00006" "ABCA4_000141" "g.94508353G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94042797G>A" "" "VUS" "ACMG"
"0000987286" "0" "90" "1" "94473807" "94473807" "subst" "0.00480453" "00006" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic" "ACMG"
"0000987287" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "00006" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000987289" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "00006" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000987291" "0" "70" "1" "94496509" "94496509" "subst" "0.00475243" "00006" "ABCA4_001024" "g.94496509C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94030953C>T" "" "likely pathogenic" "ACMG"
"0000987293" "0" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "00006" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94098794C>A" "" "pathogenic" "ACMG"
"0000987294" "0" "90" "1" "94578618" "94578618" "subst" "0.000166918" "00006" "ABCA4_000252" "g.94578618C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94113062C>T" "" "pathogenic" "ACMG"
"0000987295" "1" "70" "1" "94517254" "94517254" "subst" "0.00442654" "00006" "ABCA4_000034" "g.94517254C>G" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.[2588G>C;5603A>T]" "case unsolved" "Germline" "" "" "0" "" "" "g.94051698C>G" "" "likely pathogenic" "ACMG"
"0000987296" "0" "70" "1" "94522296" "94522296" "delins" "0" "00006" "ABCA4_002490" "g.94522296delinsAA" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94056740delinsAA" "" "likely pathogenic" "ACMG"
"0000987297" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "00006" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000987298" "0" "70" "1" "94496548" "94496548" "subst" "2.43787E-5" "00006" "ABCA4_000088" "g.94496548G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.94030992G>A" "" "likely pathogenic" "ACMG"
"0000987344" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "00006" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.5461-10T>C(;)5603A>T" "case unsolved" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000987345" "1" "50" "1" "94476467" "94476467" "subst" "0.0424562" "00006" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.[5461-10T>C;5603A>T]" "case unsolved" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000987346" "1" "50" "1" "94476467" "94476467" "subst" "0.0424562" "00006" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.[5461-10T>C;5603A>T]" "case unsolved" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000987347" "0" "50" "1" "94476467" "94476467" "subst" "0.0424562" "00006" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.5461-10T>C(;)5603A>T" "case unsolved" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000987348" "1" "50" "1" "94476467" "94476467" "subst" "0.0424562" "00006" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.[2588G>C;5603A>T]" "case unsolved" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000987349" "1" "50" "1" "94476467" "94476467" "subst" "0.0424562" "00006" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.[5461-10T>C;5603A>T]" "case unsolved" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000987350" "1" "50" "1" "94476467" "94476467" "subst" "0.0424562" "00006" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.[2588G>C;5603A>T]" "case unsolved" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000987351" "1" "50" "1" "94476467" "94476467" "subst" "0.0424562" "00006" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.[2588G>C;5603A>T]" "case unsolved" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000987352" "1" "50" "1" "94476467" "94476467" "subst" "0.0424562" "00006" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.[2588G>C;5603A>T]" "case unsolved" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000987353" "1" "50" "1" "94476467" "94476467" "subst" "0.0424562" "00006" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.[2588G>C;5603A>T]" "case unsolved" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000987354" "1" "50" "1" "94476467" "94476467" "subst" "0.0424562" "00006" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.[2588G>C;5603A>T]" "case unsolved" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000987355" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "00006" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.[1622T>C;3113C>T]" "case unsolved" "Germline" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic" "ACMG"
"0000987356" "1" "90" "1" "94495009" "94495009" "dup" "0" "00006" "ABCA4_000087" "g.94495009dup" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.[(4457C>T;4537dup)]" "case unsolved" "Germline" "" "" "0" "" "" "g.94029453dup" "" "pathogenic" "ACMG"
"0000987357" "1" "50" "1" "94476467" "94476467" "subst" "0.0424562" "00006" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.[2588G>C;5603A>T]" "case unsolved" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000987358" "1" "50" "1" "94508356" "94508356" "subst" "0" "00006" "ABCA4_000635" "g.94508356T>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.[2588G>C;3289A>T;5603A>T]" "case unsolved" "Germline" "" "" "0" "" "" "g.94042800T>A" "" "VUS" "ACMG"
"0000987359" "1" "50" "1" "94476467" "94476467" "subst" "0.0424562" "00006" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.[950delG;5603A>T;6148G>C]" "case unsolved" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000987360" "1" "50" "1" "94476467" "94476467" "subst" "0.0424562" "00006" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.[2588G>C;3289A>T;5603A>T]" "case unsolved" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000987361" "1" "30" "1" "94467548" "94467548" "subst" "0.00295661" "00006" "ABCA4_000788" "g.94467548C>G" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.[950delG;5603A>T;6148G>C]" "case unsolved" "Germline" "" "" "0" "" "" "g.94001992C>G" "" "likely benign" "ACMG"
"0000987362" "1" "50" "1" "94476467" "94476467" "subst" "0.0424562" "00006" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.[1015T>G;5603A>T]" "case unsolved" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000987363" "1" "50" "1" "94476467" "94476467" "subst" "0.0424562" "00006" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.[1015T>G;5603A>T]" "case unsolved" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000987364" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "00006" "ABCA4_000021" "g.94508969G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.[1622T>C;3113C>T]" "case unsolved" "Germline" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic" "ACMG"
"0000987365" "1" "70" "1" "94492937" "94492937" "subst" "0" "00006" "ABCA4_000529" "g.94492937G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.[2588G>C;4539+2064C>T]" "case unsolved" "Germline" "" "" "0" "" "" "g.94027381G>A" "" "likely pathogenic" "ACMG"
"0000987366" "1" "50" "1" "94476467" "94476467" "subst" "0.0424562" "00006" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.[2588G>C;5603A>T]" "case unsolved" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000987367" "1" "50" "1" "94476467" "94476467" "subst" "0.0424562" "00006" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.[2888del;5603A>T]" "case unsolved" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000987368" "1" "50" "1" "94476467" "94476467" "subst" "0.0424562" "00006" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.[3210_3211dup;5603A>T]" "case unsolved" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000987369" "1" "50" "1" "94476467" "94476467" "subst" "0.0424562" "00006" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.[3322C>T;5603A>T;6320G>A]" "case unsolved" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000987370" "1" "50" "1" "94476467" "94476467" "subst" "0.0424562" "00006" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.[4463G>A;5603A>T]" "case unsolved" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000987371" "1" "50" "1" "94476467" "94476467" "subst" "0.0424562" "00006" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.[4469G>A;5603A>T]" "case unsolved" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000987372" "1" "90" "1" "94508435" "94508436" "dup" "0" "00006" "ABCA4_000998" "g.94508435_94508436dup" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.[560G>A;3210_3211dup;5603A>T]" "case unsolved" "Germline" "" "" "0" "" "" "g.94042879_94042880dup" "" "pathogenic" "ACMG"
"0000987373" "1" "70" "1" "94466624" "94466624" "subst" "0.0014345" "00006" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.[3322C>T;5603A>T;6320G>A]" "case unsolved" "Germline" "" "" "0" "" "" "g.94001068C>T" "" "likely pathogenic" "ACMG"
"0000987374" "1" "50" "1" "94476467" "94476467" "subst" "0.0424562" "00006" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.[560G>A;3210_3211dup;5603A>T]" "case unsolved" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000987375" "1" "50" "1" "94476467" "94476467" "subst" "0.0424562" "00006" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.2588G>C(;)5603A>T" "case unsolved" "Germline" "" "" "0" "" "" "g.94010911T>A" "" "VUS" "ACMG"
"0000987550" "1" "90" "1" "94586550" "94586550" "subst" "1.21864E-5" "04701" "ABCA4_000037" "g.94586550G>A" "" "" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.94120994G>A" "" "pathogenic" "ACMG"
"0000987551" "0" "90" "1" "94578623" "94578623" "dup" "0" "04701" "ABCA4_002879" "g.94578623dup" "" "" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.94113067dup" "" "pathogenic (recessive)" "ACMG"
"0000987552" "1" "90" "1" "94577117" "94577117" "subst" "1.62472E-5" "04701" "ABCA4_000237" "g.94577117G>A" "" "" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.94111561G>A" "" "pathogenic" "ACMG"
"0000987553" "1" "90" "1" "94577031" "94577031" "subst" "0" "04701" "ABCA4_000226" "g.94577031C>A" "" "" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.94111475C>A" "" "pathogenic" "ACMG"
"0000987554" "2" "90" "1" "94577009" "94577009" "subst" "0" "04701" "ABCA4_002880" "g.94577009T>A" "" "" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.94111453T>A" "" "pathogenic" "ACMG"
"0000987555" "1" "70" "1" "94574138" "94574138" "del" "0" "04701" "ABCA4_002847" "g.94574138del" "" "" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.94108582del" "" "likely pathogenic" "ACMG"
"0000987556" "1" "90" "1" "94568652" "94568655" "del" "0" "04701" "ABCA4_002204" "g.94568652_94568655del" "" "" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.94103096_94103099del" "" "pathogenic" "ACMG"
"0000987558" "1" "90" "1" "94564484" "94564484" "subst" "0.000110199" "04701" "ABCA4_000036" "g.94564484G>A" "" "" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.94098928G>A" "" "pathogenic" "ACMG"
"0000987560" "1" "90" "1" "94564383" "94564383" "subst" "0" "04701" "ABCA4_000371" "g.94564383A>C" "" "" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.94098827A>C" "" "pathogenic" "ACMG"
"0000987561" "0" "90" "1" "94544895" "94544895" "subst" "1.62455E-5" "04701" "ABCA4_000329" "g.94544895G>A" "" "" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.94079339G>A" "" "pathogenic" "ACMG"
"0000987562" "0" "90" "1" "94528854" "94528854" "subst" "0" "04701" "ABCA4_000186" "g.94528854A>G" "" "" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.94063298A>G" "" "pathogenic" "ACMG"
"0000987577" "1" "70" "1" "94528780" "94528780" "subst" "4.06171E-6" "04701" "ABCA4_000299" "g.94528780C>T" "" "" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.94063224C>T" "" "likely pathogenic" "ACMG"
"0000987578" "1" "90" "1" "94528304" "94528304" "subst" "0" "04701" "ABCA4_000288" "g.94528304C>T" "" "" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.94062748C>T" "" "pathogenic" "ACMG"
"0000987579" "1" "70" "1" "94528272" "94528272" "subst" "4.06984E-6" "04701" "ABCA4_000999" "g.94528272C>A" "" "" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.94062716C>A" "" "likely pathogenic" "ACMG"
"0000987581" "1" "90" "1" "94528251" "94528251" "subst" "0" "04701" "ABCA4_000077" "g.94528251C>G" "" "" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.94062695C>G" "" "pathogenic" "ACMG"
"0000987583" "1" "90" "1" "94528132" "94528132" "subst" "4.06835E-6" "04701" "ABCA4_000773" "g.94528132C>T" "" "" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.94062576C>T" "" "pathogenic" "ACMG"
"0000987584" "1" "70" "1" "94526230" "94526230" "subst" "7.32136E-5" "04701" "ABCA4_000760" "g.94526230C>T" "" "" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.94060674C>T" "" "likely pathogenic" "ACMG"
"0000987585" "1" "90" "1" "94526212" "94526212" "subst" "1.22012E-5" "04701" "ABCA4_000075" "g.94526212G>A" "" "" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.94060656G>A" "" "pathogenic" "ACMG"
"0000987586" "1" "70" "1" "94522272" "94522272" "subst" "6.92171E-5" "04701" "ABCA4_002045" "g.94522272G>A" "" "" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.94056716G>A" "" "likely pathogenic" "ACMG"
"0000987587" "1" "90" "1" "94522243" "94522245" "del" "0" "04701" "ABCA4_002886" "g.94522243_94522245del" "" "" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.94056687_94056689del" "" "pathogenic" "ACMG"
"0000987588" "1" "70" "1" "94520684" "94520684" "subst" "0" "04701" "ABCA4_001069" "g.94520684A>G" "" "" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.94055128A>G" "" "likely pathogenic" "ACMG"
"0000987589" "1" "90" "1" "94517254" "94517254" "subst" "0.00442654" "04701" "ABCA4_000034" "g.94517254C>G" "" "" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.94051698C>G" "" "pathogenic" "ACMG"
"0000987590" "1" "90" "1" "94512507" "94512507" "del" "0" "04701" "ABCA4_000155" "g.94512507del" "" "" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.94046951del" "" "pathogenic" "ACMG"
"0000987591" "1" "70" "1" "94512488" "94512488" "subst" "0" "04701" "ABCA4_001977" "g.94512488T>C" "" "" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.94046932T>C" "" "likely pathogenic" "ACMG"
"0000987592" "1" "70" "1" "94509026" "94509026" "subst" "4.06497E-5" "04701" "ABCA4_000660" "g.94509026G>A" "" "" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.94043470G>A" "" "likely pathogenic" "ACMG"
"0000987593" "1" "90" "1" "94508969" "94508969" "subst" "0.00168642" "04701" "ABCA4_000021" "g.94508969G>A" "" "" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.94043413G>A" "" "pathogenic" "ACMG"
"0000987594" "1" "70" "1" "94508435" "94508436" "dup" "0" "04701" "ABCA4_000998" "g.94508435_94508436dup" "" "" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.94042879_94042880dup" "" "likely pathogenic" "ACMG"
"0000987595" "1" "70" "1" "94508353" "94508353" "subst" "2.8431E-5" "04701" "ABCA4_000141" "g.94508353G>A" "" "" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.94042797G>A" "" "likely pathogenic" "ACMG"
"0000987596" "1" "90" "1" "94508337" "94508337" "subst" "0" "04701" "ABCA4_002885" "g.94508337A>C" "" "" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.94042781A>C" "" "pathogenic" "ACMG"
"0000987597" "1" "90" "1" "94508323" "94508323" "subst" "0.000125953" "04701" "ABCA4_000031" "g.94508323G>A" "" "" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.94042767G>A" "" "pathogenic" "ACMG"
"0000987600" "0" "70" "1" "94508322" "94508322" "subst" "0" "04701" "ABCA4_001920" "g.94508322C>A" "" "" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.94042766C>A" "" "likely pathogenic" "ACMG"
"0000987601" "1" "70" "1" "54506935" "54506935" "subst" "0" "04701" "ABCA4_000626" "g.94506935G>A" "" "" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.94041379G>A" "" "likely pathogenic" "ACMG"
"0000987602" "1" "70" "1" "94505604" "94505604" "subst" "0.00645586" "04701" "ABCA4_000092" "g.94505604A>C" "" "" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.94040048A>C" "" "likely pathogenic" "ACMG"
"0000987603" "0" "70" "1" "94497392" "94497392" "subst" "0" "04701" "ABCA4_000576" "g.94497392G>T" "" "" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.94031836G>T" "" "likely pathogenic" "ACMG"
"0000987604" "1" "70" "1" "94496666" "94496666" "subst" "0.000219568" "04701" "ABCA4_000019" "g.94496666G>A" "" "" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.94031110G>A" "" "likely pathogenic" "ACMG"
"0000987605" "1" "70" "1" "94496583" "94496583" "subst" "2.03092E-5" "04701" "ABCA4_000190" "g.94496583A>G" "" "" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.94031027A>G" "" "likely pathogenic" "ACMG"
"0000987606" "0" "70" "1" "94496548" "94496548" "subst" "2.43787E-5" "04701" "ABCA4_000088" "g.94496548G>A" "" "" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.94030992G>A" "" "likely pathogenic" "ACMG"
"0000987607" "1" "90" "1" "94495104" "94495104" "subst" "0" "04701" "ABCA4_001216" "g.94495104C>T" "" "" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.94029548C>T" "" "pathogenic" "ACMG"
"0000987608" "1" "70" "1" "94495083" "94495083" "subst" "0.000124542" "04701" "ABCA4_000542" "g.94495083G>A" "" "" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.94029527G>A" "" "likely pathogenic" "ACMG"
"0000987609" "0" "70" "1" "94495021" "94495021" "subst" "0.000161713" "04701" "ABCA4_000538" "g.94495021C>T" "" "" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.94029465C>T" "" "likely pathogenic" "ACMG"
"0000987610" "1" "90" "1" "94490586" "94490586" "subst" "0" "04701" "ABCA4_002881" "g.94490586C>G" "" "" "" "Glu1529Gln" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.94025030C>G" "" "pathogenic" "ACMG"
"0000987611" "1" "90" "1" "94490567" "94490567" "subst" "5.68528E-5" "04701" "ABCA4_000026" "g.94490567G>A" "" "" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.94025011G>A" "" "pathogenic" "ACMG"
"0000987612" "1" "70" "1" "94487251" "94487251" "subst" "2.85679E-5" "04701" "ABCA4_000490" "g.94487251G>T" "" "" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.94021695G>T" "" "likely pathogenic" "ACMG"
"0000987613" "1" "90" "1" "94486966" "94486966" "subst" "2.44021E-5" "04701" "ABCA4_001748" "g.94486966C>T" "" "" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.94021410C>T" "" "pathogenic" "ACMG"
"0000987614" "1" "70" "1" "94486962" "94486962" "subst" "0" "04701" "ABCA4_002884" "g.94486962A>G" "" "" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.94021406A>G" "" "likely pathogenic" "ACMG"
"0000987615" "1" "70" "1" "94486941" "94486941" "subst" "0" "04701" "ABCA4_001420" "g.94486941G>A" "" "" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.94021385G>A" "" "likely pathogenic" "ACMG"
"0000987616" "1" "90" "1" "94486934" "94486934" "del" "1.62529E-5" "04701" "ABCA4_001745" "g.94486934del" "" "" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.94021378del" "" "pathogenic" "ACMG"
"0000987617" "1" "70" "1" "94486896" "94486896" "subst" "3.65562E-5" "04701" "ABCA4_000085" "g.94486896G>A" "" "" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.94021340G>A" "" "likely pathogenic" "ACMG"
"0000987618" "0" "70" "1" "94486836" "94486836" "subst" "8.12255E-6" "04701" "ABCA4_001739" "g.94486836G>A" "" "" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.94021280G>A" "" "likely pathogenic" "ACMG"
"0000987619" "1" "70" "1" "94485221" "94485221" "subst" "0" "04701" "ABCA4_000471" "g.94485221G>A" "" "" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.94019665G>A" "" "likely pathogenic" "ACMG"
"0000987620" "0" "90" "1" "94484001" "94484001" "subst" "0" "04701" "ABCA4_000016" "g.94484001C>T" "" "" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.94018445C>T" "" "pathogenic" "ACMG"
"0000987621" "1" "70" "1" "94480226" "94480226" "subst" "0" "04701" "ABCA4_001699" "g.94480226A>T" "" "" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.94014670A>T" "" "likely pathogenic" "ACMG"
"0000987622" "0" "70" "1" "94480146" "94480146" "subst" "2.84273E-5" "04701" "ABCA4_000122" "g.94480146T>C" "" "" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.94014590T>C" "" "likely pathogenic" "ACMG"
"0000987623" "1" "70" "1" "94476951" "94476951" "subst" "0.000236097" "04701" "ABCA4_000025" "g.94476951A>G" "" "" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.94011395A>G" "" "likely pathogenic" "ACMG"
"0000987624" "0" "70" "1" "94476904" "94476904" "subst" "0" "04701" "ABCA4_002883" "g.94476904A>C" "" "" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.94011348A>C" "" "likely pathogenic" "ACMG"
"0000987625" "1" "50" "1" "94476890" "94476890" "subst" "4.06227E-6" "04701" "ABCA4_000434" "g.94476890G>C" "" "" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.94011334G>C" "" "VUS" "ACMG"
"0000987626" "1" "70" "1" "94476875" "94476875" "subst" "1.62489E-5" "04701" "ABCA4_001280" "g.94476875G>A" "" "" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.94011319G>A" "" "likely pathogenic" "ACMG"
"0000987627" "0" "70" "1" "94476351" "94476351" "subst" "0.000296608" "04701" "ABCA4_000996" "g.94476351C>T" "" "" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.94010795C>T" "" "likely pathogenic" "ACMG"
"0000987628" "0" "70" "1" "94474318" "94474318" "subst" "3.24855E-5" "04701" "ABCA4_001652" "g.94474318C>G" "" "" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.94008762C>G" "" "likely pathogenic" "ACMG"
"0000987629" "1" "50" "1" "94473846" "94473846" "subst" "0.0315833" "04701" "ABCA4_000001" "g.94473846G>A" "" "" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.94008290G>A" "" "VUS" "ACMG"
"0000987630" "1" "90" "1" "94473807" "94473807" "subst" "0.00480453" "04701" "ABCA4_000046" "g.94473807C>T" "" "" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.94008251C>T" "" "pathogenic" "ACMG"
"0000987631" "1" "70" "1" "94473244" "94473244" "subst" "4.07169E-6" "04701" "ABCA4_001449" "g.94473244A>C" "" "" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.94007688A>C" "" "likely pathogenic" "ACMG"
"0000987632" "1" "70" "1" "94471055" "94471055" "subst" "0.00035346" "04701" "ABCA4_000029" "g.94471055C>T" "" "" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.94005499C>T" "" "likely pathogenic" "ACMG"
"0000987633" "1" "50" "1" "94471050" "94471050" "subst" "0" "04701" "ABCA4_002605" "g.94471050G>A" "" "" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.94005494G>A" "" "VUS" "ACMG"
"0000987634" "1" "70" "1" "94471025" "94471025" "subst" "0.00031698" "04701" "ABCA4_000096" "g.94471025C>T" "" "" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.94005469C>T" "" "likely pathogenic" "ACMG"
"0000987635" "1" "70" "1" "94467476" "94467476" "subst" "0" "04701" "ABCA4_002882" "g.94467476C>A" "" "" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.94001920C>A" "" "likely pathogenic" "ACMG"
"0000987636" "1" "70" "1" "94466638" "94466638" "subst" "2.8465E-5" "04701" "ABCA4_000841" "g.94466638G>T" "" "" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.94001082G>T" "" "likely pathogenic" "ACMG"
"0000987637" "0" "70" "1" "94466624" "94466624" "subst" "0.0014345" "04701" "ABCA4_000093" "g.94466624C>T" "" "" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.94001068C>T" "" "likely pathogenic (recessive)" "ACMG"
"0000987638" "1" "70" "1" "94466605" "94466605" "subst" "0" "04701" "ABCA4_000157" "g.94466605G>C" "" "" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.94001049G>C" "" "likely pathogenic" "ACMG"
"0000987639" "0" "90" "1" "94466477" "94466477" "subst" "0" "04701" "ABCA4_001577" "g.94466477C>A" "" "" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.94000921C>A" "" "pathogenic" "ACMG"
"0000987640" "1" "70" "1" "94466474" "94466474" "subst" "0" "04701" "ABCA4_001202" "g.94466474A>G" "" "" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.94000918A>G" "" "likely pathogenic (recessive)" "ACMG"
"0000987641" "1" "70" "1" "94463460" "94463460" "subst" "6.90507E-5" "04701" "ABCA4_000799" "g.94463460A>G" "" "" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.93997904A>G" "" "likely pathogenic" "ACMG"
"0000987642" "1" "70" "1" "94466477" "94466477" "subst" "0" "04701" "ABCA4_000854" "g.94463428T>C" "" "" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.93997872T>C" "" "likely pathogenic" "ACMG"
"0000987780" "3" "90" "1" "94520801" "94520801" "subst" "0.000211489" "04221" "ABCA4_000724" "g.94520801C>T" "" "" "" "" "" "Germline" "yes" "rs61750202" "0" "" "" "g.94055245C>T" "{CV:99135}" "pathogenic (recessive)" "ACMG"
"0000991485" "0" "50" "1" "94463452" "94463452" "subst" "9.34412E-5" "02327" "ABCA4_000870" "g.94463452C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000991486" "0" "90" "1" "94466658" "94466658" "subst" "8.14817E-6" "02330" "ABCA4_000132" "g.94466658C>T" "" "" "" "ABCA4(NM_000350.3):c.6286G>A (p.E2096K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000991487" "0" "90" "1" "94473278" "94473278" "del" "3.25908E-5" "02330" "ABCA4_000392" "g.94473278del" "" "" "" "ABCA4(NM_000350.3):c.5917delG (p.V1973*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000991488" "0" "10" "1" "94496539" "94496539" "subst" "0.00288232" "02327" "ABCA4_001267" "g.94496539C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000991489" "0" "30" "1" "94502888" "94502888" "subst" "0.00310941" "02327" "ABCA4_000603" "g.94502888A>G" "" "" "" "ABCA4(NM_000350.2):c.3626T>C (p.M1209T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000991490" "0" "30" "1" "94506969" "94506969" "subst" "7.31166E-5" "02327" "ABCA4_001914" "g.94506969G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000991491" "0" "90" "1" "94526258" "94526258" "subst" "4.07183E-6" "02327" "ABCA4_000762" "g.94526258G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000991492" "0" "30" "1" "94528774" "94528774" "subst" "0.00264827" "01804" "ABCA4_000298" "g.94528774C>T" "" "" "" "ABCA4(NM_000350.2):c.1654G>A (p.V552I, p.(Val552Ile)), ABCA4(NM_000350.3):c.1654G>A (p.V552I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000991493" "0" "50" "1" "94564451" "94564451" "subst" "0.000150413" "01804" "ABCA4_000378" "g.94564451T>G" "" "" "" "ABCA4(NM_000350.2):c.667A>C (p.K223Q, p.(Lys223Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001008599" "0" "10" "1" "94578548" "94578548" "=" "0" "01695" "ABCA4_002240" "g.94578548=" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "c.141A>G" "ACMG BS1, BP4_m, BP7" "SUMMARY record" "" "" "0" "" "" "g.94112992=" "" "benign" "ACMG"
"0001008600" "0" "50" "1" "94574173" "94574174" "ins" "0" "01695" "ABCA4_002210" "g.94574173_94574174insN[24]" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM4; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94108617_94108618insN[24]" "" "VUS" "ACMG"
"0001008601" "0" "50" "1" "94574172" "94574173" "ins" "0" "01695" "ABCA4_002905" "g.94574172_94574173insN[24]" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94108616_94108617insN[24]" "" "VUS" "ACMG"
"0001008602" "0" "70" "1" "94544220" "94544221" "ins" "0" "01695" "ABCA4_002135" "g.94544220_94544221insN[17]" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94078664_94078665insN[17]" "" "likely pathogenic" "ACMG"
"0001008603" "0" "50" "1" "94543245" "94543444" "del" "0" "01695" "ABCA4_002903" "g.(94528874_94543245)_(94543444_94544145)del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "c.1357_1554del" "ACMG PM2_sup, PM4, PP3_m; severity category uncertain" "SUMMARY record" "" "" "0" "" "" "g.(94063318_94077689)_(94077888_94078589)del" "" "VUS" "ACMG"
"0001008604" "0" "70" "1" "94528132" "94528874" "del" "0" "01695" "ABCA4_002902" "g.94528132_94528874del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94062576_94063318del" "" "likely pathogenic" "ACMG"
"0001008605" "0" "90" "1" "94526398" "94532364" "delins" "0" "01695" "ABCA4_002492" "g.94526398_94532364delins94528416_94528694inv" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PM3_sup; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94060842_94066808delins94062860_94063138inv" "" "pathogenic" "ACMG"
"0001008606" "0" "70" "1" "94522479" "94531301" "delins" "0" "01695" "ABCA4_002900" "g.94522479_94531301delins[CATTCAT;94525863_94526086inv]" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1_S, PM2_sup, PM3_sup; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94056923_94065745delins[CATTCAT;94060307_94060530inv]" "" "likely pathogenic" "ACMG"
"0001008607" "0" "30" "1" "94520884" "94520884" "subst" "0.000302547" "01695" "ABCA4_002899" "g.94520884G>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "c.2383-13T>C" "ACMG PM2_sup, BP4_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94055328G>A" "" "likely benign" "ACMG"
"0001008608" "0" "70" "1" "94507699" "94511700" "del" "0" "01695" "ABCA4_002307" "g.94507699_94511700del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "c.(2918+765_2918+775)_(3328+618_3328+662)del" "ACMG PVS1, PM2_sup; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94042143_94046144del" "" "likely pathogenic" "ACMG"
"0001008609" "0" "70" "1" "94505681" "94586602" "del" "0" "01695" "ABCA4_002897" "g.94505681_(94586602_?)del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94040125_(94121046_?)del" "" "likely pathogenic" "ACMG"
"0001008610" "0" "50" "1" "94497445" "94497446" "ins" "0" "01695" "ABCA4_001856" "g.94497445_94497446insinsN[24]" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94031889_94031890insN[24]" "" "VUS" "ACMG"
"0001008611" "0" "50" "1" "94497444" "94497445" "ins" "0" "01695" "ABCA4_002896" "g.94497444_94497445insN[24]" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94031888_94031889insN[24]" "" "VUS" "ACMG"
"0001008612" "0" "50" "1" "94497440" "94497441" "ins" "0" "01695" "ABCA4_002895" "g.94497440_94497441insN[24]" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94031884_94031885insN[24]" "" "VUS" "ACMG"
"0001008613" "0" "50" "1" "94476351" "94476351" "subst" "0" "01695" "ABCA4_001450" "g.94476351C>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "c.5714+5C>T" "ACMG PM2_sup, PP3; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94010795C>A" "" "VUS" "ACMG"
"0001008614" "0" "70" "1" "94476106" "94586955" "del" "0" "01695" "ABCA4_002291" "g.94476106_94586955del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "c.-354_5714+250del" "ACMG PVS1, PM2_sup; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94010550_94121399del" "" "likely pathogenic" "ACMG"
"0001008615" "0" "70" "1" "94402743" "94505682" "del" "0" "01695" "ABCA4_002888" "g.94402743_94505682del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "c.3524_*56050del" "ACMG PVS1, PM2_sup; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.93937187_94040126del" "" "likely pathogenic" "ACMG"
"0001008616" "0" "70" "1" "94548907" "94548998" "del" "0" "01695" "ABCA4_002593" "g.(94546275_94548907)_(94548998_94564349)del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1_S, PM2_sup, PM3_S; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.(94080719_94083351)_(94083442_94098793)del" "" "likely pathogenic" "ACMG"
"0001008617" "0" "70" "1" "94528132" "94528874" "del" "0" "01695" "ABCA4_002353" "g.(94526316_94528132)_(94528874_94543245)del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.(94060760_94062576)_(94063318_94077689)del" "" "likely pathogenic" "ACMG"
"0001008618" "0" "70" "1" "94520666" "94520872" "del" "0" "01695" "ABCA4_002707" "g.(94517255_94520666)_(94520872_94522156)del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.(94051699_94055110)_(94055316_94056600)del" "" "likely pathogenic" "ACMG"
"0001008619" "0" "90" "1" "94526315" "94526315" "del" "0" "01695" "ABCA4_002901" "g.(94517254_94526315)_(94526315_94544234)del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PM3_sup; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.(94051698_94060759)_(94060759_94078678)del" "" "pathogenic" "ACMG"
"0001008620" "0" "70" "1" "94517188" "94522379" "del" "0" "01695" "ABCA4_002591" "g.(94514514_94517188)_(94522379_94526092)del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.(94048958_94051632)_(94056823_94060536)del" "" "likely pathogenic" "ACMG"
"0001008621" "0" "70" "1" "94512474" "94514514" "del" "0" "01695" "ABCA4_002887" "g.(94510301_94512474)_(94514514_94517188)del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.(94044745_94046918)_(94048958_94051632)del" "" "likely pathogenic" "ACMG"
"0001008622" "0" "50" "1" "94476355" "94488975" "dup" "0" "01695" "ABCA4_002760" "g.(94474428_94476355)_(94488975_94490509)dup" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "c.(?_4635)_(5714_?)dup" "ACMG PM2_sup, PM4; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.(94008872_94010799)_(94023419_94024953)dup" "" "VUS" "ACMG"
"0001008623" "0" "50" "1" "94474306" "94476486" "dup" "0" "01695" "ABCA4_002892" "g.(94473854_94474306)_(94476486_94476817)dup" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1_S, PM2_sup; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.(94008298_94008750)_(94010930_94011261)dup" "" "VUS" "ACMG"
"0001008624" "0" "70" "1" "94466391" "94467549" "del" "0" "01695" "ABCA4_002274" "g.(94463667_94466391)_(94467549_94470996)del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "c.(?_6148)_(6479_?)del, c.(?_6148-1)_(6479+1_?)del" "ACMG PVS1, PM2_sup; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.(93998111_94000835)_(94001993_94005440)del" "" "likely pathogenic" "ACMG"
"0001008625" "0" "50" "1" "94458792" "94514514" "del" "0" "01695" "ABCA4_002890" "g.(?_94458792)_(94514514_94517188)del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1_S, PM2_sup; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.(?_93993236)_(94048958_94051632)del" "" "VUS" "ACMG"
"0001008626" "0" "70" "1" "94458792" "94461752" "del" "0" "01695" "NPHS2_000000" "g.(?_94458792)_(94461752_94463416)del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1_S, PM2_sup, PM3_sup; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.(?_93993236)_(93996196_93997860)del" "" "likely pathogenic" "ACMG"
"0001008627" "0" "50" "1" "94458792" "94458799" "del" "0" "01695" "ABCA4_002889" "g.(?_94458792)_(94458799_94461664)del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1_S, PM2_sup; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.(?_93993236)_(93993243_93996108)del" "" "VUS" "ACMG"
"0001008628" "0" "50" "1" "94463476" "94463477" "ins" "0" "01695" "ABCA4_002326" "g.94463476_94463477insN[28]" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "c.6669_6670ins28" "ACMG PM2_sup; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.93997920_93997921insN[28]" "" "VUS" "ACMG"
"0001008629" "0" "70" "1" "94457539" "94476651" "del" "0" "01695" "ABCA4_001552" "g.94457539_94476651del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "c.5585-164_*1256del" "ACMG PVS1, PM2_sup; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.93991983_94011095del" "" "likely pathogenic" "ACMG"
"0001008630" "0" "30" "1" "94586693" "94586693" "subst" "0" "01695" "ABCA4_002258" "g.94586693G>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, BP4_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94121137G>A" "" "likely benign" "ACMG"
"0001008631" "0" "30" "1" "94586615" "94586615" "subst" "4.06085E-6" "01695" "ABCA4_002257" "g.94586615C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, BP4_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94121059C>T" "" "likely benign" "ACMG"
"0001008632" "0" "50" "1" "94586599" "94586599" "subst" "0" "01695" "ABCA4_002256" "g.94586599C>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1_M, PM2_sup, PM5; severity category uncertain" "SUMMARY record" "" "" "0" "" "" "g.94121043C>A" "" "VUS" "ACMG"
"0001008633" "0" "90" "1" "94586586" "94586586" "subst" "0" "01695" "ABCA4_002255" "g.94586586G>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94121030G>A" "" "pathogenic" "ACMG"
"0001008634" "0" "50" "1" "94586582" "94586582" "subst" "0" "01695" "ABCA4_002254" "g.94586582A>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup; severity category uncertain" "SUMMARY record" "" "" "0" "" "" "g.94121026A>T" "" "VUS" "ACMG"
"0001008635" "0" "90" "1" "94586581" "94586581" "dup" "0" "01695" "ABCA4_002253" "g.94586581dup" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PS4; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94121025dup" "" "pathogenic" "ACMG"
"0001008636" "0" "90" "1" "94586576" "94586576" "dup" "0" "01695" "ABCA4_002252" "g.94586576dup" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94121020dup" "" "pathogenic" "ACMG"
"0001008637" "0" "30" "1" "94586569" "94586569" "subst" "0" "01695" "ABCA4_002251" "g.94586569G>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG BP4_m, BP7; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94121013G>A" "" "likely benign" "ACMG"
"0001008638" "0" "90" "1" "94586566" "94586566" "subst" "0" "01695" "ABCA4_002250" "g.94586566C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PM3_sup, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94121010C>T" "" "pathogenic" "ACMG"
"0001008639" "0" "50" "1" "94586565" "94586565" "subst" "0" "01695" "ABCA4_002249" "g.94586565T>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94121009T>C" "" "VUS" "ACMG"
"0001008640" "0" "70" "1" "94586560" "94586560" "subst" "0" "01695" "ABCA4_001330" "g.94586560G>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4, PM3, PP3; severity category mild/moderate" "SUMMARY record" "" "" "0" "" "" "g.94121004G>T" "" "likely pathogenic" "ACMG"
"0001008641" "0" "90" "1" "94586555" "94586556" "del" "0" "01695" "ABCA4_002513" "g.94586555_94586556del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94120999_94121000del" "" "pathogenic" "ACMG"
"0001008642" "0" "90" "1" "94586554" "94586560" "delins" "0" "01695" "ABCA4_002248" "g.94586554_94586560delinsCT" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PS4, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94120998_94121004delinsCT" "" "pathogenic" "ACMG"
"0001008643" "0" "70" "1" "94586549" "94586549" "subst" "0" "01695" "ABCA4_001028" "g.94586549C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4, PM3_sup, PM5, PP3; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94120993C>T" "" "likely pathogenic" "ACMG"
"0001008644" "0" "90" "1" "94586549" "94586549" "subst" "0" "01695" "ABCA4_001329" "g.94586549C>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4, PM3_S, PM5, PP3_m; severity category moderate" "SUMMARY record" "" "" "0" "" "" "g.94120993C>G" "" "pathogenic" "ACMG"
"0001008645" "0" "90" "1" "94586536" "94586536" "subst" "0" "01695" "ABCA4_000255" "g.94586536C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4, PM3_S, PP3_m; severity category mild/moderate" "SUMMARY record" "" "" "0" "" "" "g.94120980C>T" "" "pathogenic" "ACMG"
"0001008646" "0" "50" "1" "94586536" "94586536" "subst" "0" "01695" "ABCA4_002247" "g.94586536C>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PP3; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94120980C>A" "" "VUS" "ACMG"
"0001008647" "0" "30" "1" "94584492" "94584492" "subst" "0" "01695" "ABCA4_002281" "g.94584492C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG BP4_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94118936C>T" "" "likely benign" "ACMG"
"0001008648" "0" "50" "1" "94580645" "94580645" "subst" "0" "01695" "ABCA4_002512" "g.94580645A>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS3_sup, PM2_sup, PM3, PP3; severity category moderate" "SUMMARY record" "" "" "0" "" "" "g.94115089A>C" "" "VUS" "ACMG"
"0001008649" "0" "50" "1" "94579013" "94586018" "dup" "0" "01695" "ABCA4_002246" "g.94579013_94586018dup" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup; severity category uncertain" "SUMMARY record" "" "" "0" "" "" "g.94113457_94120462dup" "" "VUS" "ACMG"
"0001008650" "0" "50" "1" "94578638" "94578638" "subst" "0" "01695" "ABCA4_002245" "g.94578638A>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM3, PP3; severity category uncertain" "SUMMARY record" "" "" "0" "" "" "g.94113082A>T" "" "VUS" "ACMG"
"0001008651" "0" "70" "1" "94578624" "94578624" "subst" "4.07408E-6" "01695" "ABCA4_001055" "g.94578624T>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94113068T>C" "" "likely pathogenic" "ACMG"
"0001008652" "0" "90" "1" "94578623" "94578623" "del" "0" "01695" "ABCA4_001093" "g.94578623del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94113067del" "" "pathogenic" "ACMG"
"0001008653" "0" "70" "1" "94578623" "94578623" "subst" "0" "01695" "ABCA4_001481" "g.94578623C>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94113067C>G" "" "likely pathogenic" "ACMG"
"0001008654" "0" "50" "1" "94578620" "94578620" "subst" "0" "01695" "ABCA4_002244" "g.94578620A>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94113064A>C" "" "VUS" "ACMG"
"0001008655" "0" "50" "1" "94578604" "94578604" "subst" "1.21987E-5" "01695" "ABCA4_002243" "g.94578604G>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94113048G>A" "" "VUS" "ACMG"
"0001008656" "0" "50" "1" "94578603" "94578603" "subst" "0" "01695" "ABCA4_002242" "g.94578603A>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94113047A>C" "" "VUS" "ACMG"
"0001008657" "0" "90" "1" "94578597" "94578597" "subst" "0" "01695" "ABCA4_000250" "g.94578597C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PS4, PM3_sup, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94113041C>T" "" "pathogenic" "ACMG"
"0001008658" "0" "50" "1" "94578595" "94578595" "subst" "4.06471E-6" "01695" "ABCA4_001328" "g.94578595G>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PP3_m; severity category mild/moderate" "SUMMARY record" "" "" "0" "" "" "g.94113039G>T" "" "VUS" "ACMG"
"0001008659" "0" "50" "1" "94578594" "94578594" "subst" "0" "01695" "ABCA4_001327" "g.94578594G>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM3_sup, PP3_m; severity category mild/moderate" "SUMMARY record" "" "" "0" "" "" "g.94113038G>A" "" "VUS" "ACMG"
"0001008660" "0" "50" "1" "94578549" "94578549" "subst" "9.34238E-5" "01695" "ABCA4_002241" "g.94578549G>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PP3; severity category benign" "SUMMARY record" "" "" "0" "" "" "g.94112993G>A" "" "VUS" "ACMG"
"0001008661" "0" "50" "1" "94578533" "94578533" "subst" "8.12242E-6" "01695" "ABCA4_002239" "g.94578533A>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PP3; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94112977A>C" "" "VUS" "ACMG"
"0001008662" "0" "90" "1" "94578532" "94578532" "subst" "4.06141E-6" "01695" "ABCA4_002238" "g.94578532C>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PS4, PM3_sup, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94112976C>A" "" "pathogenic" "ACMG"
"0001008663" "0" "70" "1" "94578524" "94578524" "subst" "0" "01695" "ABCA4_002237" "g.94578524C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4, PM3, PP3; causative variant of unknown severity" "SUMMARY record" "" "" "0" "" "" "g.94112968C>T" "" "likely pathogenic" "ACMG"
"0001008664" "0" "70" "1" "94578188" "94580471" "del" "0" "01695" "ABCA4_002236" "g.94578188_94580471del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94112632_94114915del" "" "likely pathogenic" "ACMG"
"0001008665" "0" "70" "1" "94577492" "94578764" "del" "0" "01695" "ABCA4_002315" "g.94577492_94578764del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94111936_94113208del" "" "likely pathogenic" "ACMG"
"0001008666" "0" "50" "1" "94577158" "94577158" "subst" "0" "01695" "ABCA4_001065" "g.94577158A>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM3_sup, PP3; severity category uncertain" "SUMMARY record" "" "" "0" "" "" "g.94111602A>T" "" "VUS" "ACMG"
"0001008667" "0" "50" "1" "94577158" "94577158" "subst" "0" "01695" "ABCA4_002235" "g.94577158A>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4, BP4_m; severity category mild" "SUMMARY record" "" "" "0" "" "" "g.94111602A>C" "" "VUS" "ACMG"
"0001008668" "0" "30" "1" "94577140" "94577140" "subst" "0" "01695" "ABCA4_001520" "g.94577140A>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, BP4_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94111584A>G" "" "likely benign" "ACMG"
"0001008669" "0" "50" "1" "94577132" "94577132" "subst" "0" "01695" "ABCA4_001545" "g.94577132T>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM5, PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94111576T>G" "" "VUS" "ACMG"
"0001008670" "0" "70" "1" "94577129" "94577129" "subst" "0" "01695" "ABCA4_001326" "g.94577129A>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4, PP3_m; severity category moderate/severe" "SUMMARY record" "" "" "0" "" "" "g.94111573A>C" "" "likely pathogenic" "ACMG"
"0001008671" "0" "50" "1" "94577126" "94577126" "subst" "0" "01695" "ABCA4_001394" "g.94577126G>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94111570G>C" "" "VUS" "ACMG"
"0001008672" "0" "90" "1" "94577125" "94577126" "ins" "0" "01695" "ABCA4_001393" "g.94577125_94577126insTT" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94111569_94111570insTT" "" "pathogenic" "ACMG"
"0001008673" "0" "90" "1" "94577117" "94577117" "subst" "0" "01695" "ABCA4_002511" "g.94577117G>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4, PM3, PM5, PP3_m; causative variant of unknown severity" "SUMMARY record" "" "" "0" "" "" "g.94111561G>C" "" "pathogenic" "ACMG"
"0001008674" "0" "30" "1" "94577116" "94577116" "subst" "0" "01695" "ABCA4_002234" "g.94577116C>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, BP4_m, BP7; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94111560C>G" "" "likely benign" "ACMG"
"0001008675" "0" "50" "1" "94577114" "94577114" "subst" "0" "01695" "ABCA4_002233" "g.94577114A>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM5, PP3_m; severity category uncertain" "SUMMARY record" "" "" "0" "" "" "g.94111558A>G" "" "VUS" "ACMG"
"0001008676" "0" "70" "1" "94577113" "94577113" "subst" "4.06141E-6" "01695" "ABCA4_002232" "g.94577113C>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4, PM3, PP3; severity category mild/moderate" "SUMMARY record" "" "" "0" "" "" "g.94111557C>G" "" "likely pathogenic" "ACMG"
"0001008677" "0" "90" "1" "94577112" "94577112" "subst" "0" "01695" "ABCA4_002231" "g.94577112G>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4, PM3, PM5, PP3_m; severity category mild/moderate" "SUMMARY record" "" "" "0" "" "" "g.94111556G>C" "" "pathogenic" "ACMG"
"0001008678" "0" "50" "1" "94577111" "94577111" "subst" "0" "01695" "ABCA4_002230" "g.94577111G>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM5, PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94111555G>A" "" "VUS" "ACMG"
"0001008679" "0" "70" "1" "94577109" "94577109" "subst" "0" "01695" "ABCA4_002229" "g.94577109A>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4, PM3_sup, PP3_m; severity category moderate/severe" "SUMMARY record" "" "" "0" "" "" "g.94111553A>G" "" "likely pathogenic" "ACMG"
"0001008680" "0" "90" "1" "94577083" "94577083" "dup" "0" "01695" "ABCA4_000993" "g.94577083dup" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94111527dup" "" "pathogenic" "ACMG"
"0001008681" "0" "50" "1" "94577081" "94577081" "subst" "0" "01695" "ABCA4_002228" "g.94577081C>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM5, PP3_m; severity category uncertain" "SUMMARY record" "" "" "0" "" "" "g.94111525C>A" "" "VUS" "ACMG"
"0001008682" "0" "50" "1" "94577079" "94577079" "subst" "0" "01695" "ABCA4_002227" "g.94577079T>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4, PP3; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94111523T>A" "" "VUS" "ACMG"
"0001008683" "0" "50" "1" "94577073" "94577073" "subst" "0" "01695" "ABCA4_002357" "g.94577073A>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM5, PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94111517A>G" "" "VUS" "ACMG"
"0001008684" "0" "50" "1" "94577072" "94577072" "subst" "0" "01695" "ABCA4_002226" "g.94577072C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM5, PP3_m; severity category uncertain" "SUMMARY record" "" "" "0" "" "" "g.94111516C>T" "" "VUS" "ACMG"
"0001008685" "0" "50" "1" "94577069" "94577069" "subst" "0" "01695" "ABCA4_002225" "g.94577069T>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PP3_m; severity category uncertain" "SUMMARY record" "" "" "0" "" "" "g.94111513T>G" "" "VUS" "ACMG"
"0001008686" "0" "50" "1" "94577065" "94577066" "ins" "0" "01695" "ABCA4_001514" "g.94577065_94577066insTTTTC" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94111509_94111510insTTTTC" "" "VUS" "ACMG"
"0001008687" "0" "90" "1" "94577064" "94577065" "ins" "0" "01695" "ABCA4_002224" "g.94577064_94577065insTTTTC" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94111508_94111509insTTTTC" "" "pathogenic" "ACMG"
"0001008688" "0" "30" "1" "94577059" "94577059" "subst" "0.000686506" "01695" "ABCA4_000988" "g.94577059A>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG BP4_m, BP7" "SUMMARY record" "" "" "0" "" "" "g.94111503A>G" "" "likely benign" "ACMG"
"0001008689" "0" "50" "1" "94577054" "94577054" "subst" "0" "01695" "ABCA4_001353" "g.94577054C>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94111498C>G" "" "VUS" "ACMG"
"0001008690" "0" "50" "1" "94577034" "94577034" "subst" "4.06441E-6" "01695" "ABCA4_002223" "g.94577034C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94111478C>T" "" "VUS" "ACMG"
"0001008691" "0" "70" "1" "94577013" "94577013" "subst" "0" "01695" "ABCA4_001325" "g.94577013A>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4, PM3_sup, PP3_m; severity category moderate" "SUMMARY record" "" "" "0" "" "" "g.94111457A>G" "" "likely pathogenic" "ACMG"
"0001008692" "0" "70" "1" "94577010" "94577010" "subst" "0" "01695" "ABCA4_002222" "g.94577010T>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4, PM3_sup, PM5, PP3_m; severity category mild/moderate" "SUMMARY record" "" "" "0" "" "" "g.94111454T>A" "" "likely pathogenic" "ACMG"
"0001008693" "0" "70" "1" "94577006" "94577006" "subst" "8.13511E-6" "01695" "ABCA4_001324" "g.94577006T>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4, PM3, PP3_m; severity category mild/moderate" "SUMMARY record" "" "" "0" "" "" "g.94111450T>C" "" "likely pathogenic" "ACMG"
"0001008694" "0" "50" "1" "94577003" "94577003" "subst" "0" "01695" "ABCA4_002221" "g.94577003T>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM3_sup, PP3; severity category uncertain" "SUMMARY record" "" "" "0" "" "" "g.94111447T>C" "" "VUS" "ACMG"
"0001008695" "0" "50" "1" "94577002" "94577002" "subst" "7.32398E-5" "01695" "ABCA4_000987" "g.94577002G>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4, PM3_sup; severity category mild/moderate" "SUMMARY record" "" "" "0" "" "" "g.94111446G>C" "" "VUS" "ACMG"
"0001008696" "0" "30" "1" "94576991" "94576991" "subst" "0" "01695" "ABCA4_002220" "g.94576991T>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, BP4_m; severity category uncertain" "SUMMARY record" "" "" "0" "" "" "g.94111435T>C" "" "likely benign" "ACMG"
"0001008697" "0" "30" "1" "94576988" "94576988" "subst" "0" "01695" "ABCA4_002219" "g.94576988A>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, BP4_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94111432A>G" "" "likely benign" "ACMG"
"0001008698" "0" "30" "1" "94576968" "94576968" "subst" "0.519705" "01695" "ABCA4_000949" "g.94576968T>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG BS1, BP4_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94111412T>C" "" "likely benign" "ACMG"
"0001008699" "0" "50" "1" "94576926" "94576926" "subst" "0" "01695" "ABCA4_000219" "g.94576926G>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4, BP2, BP4_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94111370G>A" "" "VUS" "ACMG"
"0001008700" "0" "70" "1" "94574275" "94574275" "subst" "0" "01695" "ABCA4_001025" "g.94574275G>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS3_M, PS4, PM3_sup, PP3; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94108719G>C" "" "likely pathogenic" "ACMG"
"0001008701" "0" "90" "1" "94574274" "94574274" "subst" "0" "01695" "ABCA4_002218" "g.94574274T>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PS4, PM3_sup; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94108718T>C" "" "pathogenic" "ACMG"
"0001008702" "0" "30" "1" "94574258" "94574258" "subst" "0.00115728" "01695" "ABCA4_001132" "g.94574258T>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG BP4" "SUMMARY record" "" "" "0" "" "" "g.94108702T>A" "" "likely benign" "ACMG"
"0001008703" "0" "30" "1" "94574256" "94574256" "subst" "0" "01695" "ABCA4_001544" "g.94574256G>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, BP4_m, BP7; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94108700G>T" "" "likely benign" "ACMG"
"0001008704" "0" "50" "1" "94574234" "94574234" "subst" "2.03031E-5" "01695" "ABCA4_001131" "g.94574234A>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94108678A>G" "" "VUS" "ACMG"
"0001008705" "0" "90" "1" "94574228" "94574229" "del" "0" "01695" "ABCA4_002217" "g.94574228_94574229del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PP3; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94108672_94108673del" "" "pathogenic" "ACMG"
"0001008706" "0" "50" "1" "94574205" "94574205" "subst" "2.03029E-5" "01695" "ABCA4_001268" "g.94574205G>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94108649G>A" "" "VUS" "ACMG"
"0001008707" "0" "50" "1" "94574204" "94574204" "subst" "2.84243E-5" "01695" "ABCA4_002216" "g.94574204C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, BP4; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94108648C>T" "" "VUS" "ACMG"
"0001008708" "0" "90" "1" "94574197" "94574197" "subst" "0" "01695" "ABCA4_002215" "g.94574197C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PM3, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94108641C>T" "" "pathogenic" "ACMG"
"0001008709" "0" "70" "1" "94574195" "94574232" "delins" "0" "01695" "ABCA4_002214" "g.94574195_94574232delinsTGTCC" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM3, PM4, PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94108639_94108676delinsTGTCC" "" "likely pathogenic" "ACMG"
"0001008710" "0" "30" "1" "94574188" "94574188" "subst" "4.06058E-6" "01695" "ABCA4_002213" "g.94574188T>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG BP4_m, BP7; severity category uncertain" "SUMMARY record" "" "" "0" "" "" "g.94108632T>C" "" "likely benign" "ACMG"
"0001008711" "0" "50" "1" "94574187" "94574187" "subst" "0" "01695" "ABCA4_002212" "g.94574187G>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4, PM3_sup, BP4; severity category moderate/severe" "SUMMARY record" "" "" "0" "" "" "g.94108631G>T" "" "VUS" "ACMG"
"0001008712" "0" "90" "1" "94574182" "94574182" "del" "0" "01695" "ABCA4_002211" "g.94574182del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PM3; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94108626del" "" "pathogenic" "ACMG"
"0001008713" "0" "30" "1" "94574152" "94574152" "subst" "4.06101E-6" "01695" "ABCA4_002209" "g.94574152A>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG BP4_m, BP7; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94108596A>T" "" "likely benign" "ACMG"
"0001008714" "0" "90" "1" "94574149" "94574149" "del" "0" "01695" "ABCA4_001323" "g.94574149del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94108593del" "" "pathogenic" "ACMG"
"0001008715" "0" "70" "1" "94574132" "94574132" "subst" "4.06151E-6" "01695" "ABCA4_001082" "g.94574132C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94108576C>T" "" "likely pathogenic" "ACMG"
"0001008716" "0" "30" "1" "94568703" "94568703" "subst" "0" "01695" "ABCA4_002208" "g.94568703A>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, BP4_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94103147A>G" "" "likely benign" "ACMG"
"0001008717" "0" "50" "1" "94568702" "94568705" "del" "0" "01695" "ABCA4_002207" "g.94568702_94568705del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94103146_94103149del" "" "VUS" "ACMG"
"0001008718" "0" "90" "1" "94568700" "94568700" "subst" "0" "01695" "ABCA4_002206" "g.94568700T>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PS4; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94103144T>C" "" "pathogenic" "ACMG"
"0001008719" "0" "90" "1" "94568699" "94568702" "del" "0" "01695" "ABCA4_001130" "g.94568699_94568702del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94103143_94103146del" "" "pathogenic" "ACMG"
"0001008720" "0" "50" "1" "94568689" "94568689" "subst" "0" "01695" "ABCA4_001023" "g.94568689A>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PP3; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94103133A>G" "" "VUS" "ACMG"
"0001008721" "0" "50" "1" "94568678" "94568678" "subst" "0" "01695" "ABCA4_002205" "g.94568678C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4, PM3_sup; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94103122C>T" "" "VUS" "ACMG"
"0001008722" "0" "50" "1" "94568677" "94568677" "subst" "0" "01695" "ABCA4_001480" "g.94568677T>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PP3; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94103121T>A" "" "VUS" "ACMG"
"0001008723" "0" "90" "1" "94568671" "94568671" "subst" "0" "01695" "ABCA4_000947" "g.94568671A>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PS4, PM3_sup, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94103115A>T" "" "pathogenic" "ACMG"
"0001008724" "0" "90" "1" "94568652" "94568655" "del" "0" "01695" "ABCA4_002204" "g.94568652_94568655del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94103096_94103099del" "" "pathogenic" "ACMG"
"0001008725" "0" "90" "1" "94568636" "94568636" "subst" "0" "01695" "ABCA4_001365" "g.94568636T>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PM3_sup, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94103080T>A" "" "pathogenic" "ACMG"
"0001008726" "0" "50" "1" "94568632" "94568632" "subst" "0" "01695" "ABCA4_002203" "g.94568632T>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, BP4; severity category uncertain" "SUMMARY record" "" "" "0" "" "" "g.94103076T>G" "" "VUS" "ACMG"
"0001008727" "0" "50" "1" "94568630" "94568630" "subst" "4.06065E-6" "01695" "ABCA4_002202" "g.94568630T>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94103074T>A" "" "VUS" "ACMG"
"0001008728" "0" "90" "1" "94568625" "94568625" "dup" "0" "01695" "ABCA4_002201" "g.94568625dup" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94103069dup" "" "pathogenic" "ACMG"
"0001008729" "0" "90" "1" "94568588" "94568588" "subst" "0" "01695" "ABCA4_002200" "g.94568588G>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PS4, PM3_S, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94103032G>A" "" "pathogenic" "ACMG"
"0001008730" "0" "30" "1" "94568577" "94568577" "subst" "0" "01695" "ABCA4_002199" "g.94568577T>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, BP4_m, BP7; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94103021T>G" "" "likely benign" "ACMG"
"0001008731" "0" "70" "1" "94568570" "94568570" "subst" "0" "01695" "ABCA4_002198" "g.94568570C>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94103014C>G" "" "likely pathogenic" "ACMG"
"0001008732" "0" "70" "1" "94568569" "94568569" "subst" "0" "01695" "ABCA4_001129" "g.94568569A>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94103013A>C" "" "likely pathogenic" "ACMG"
"0001008733" "0" "90" "1" "94568564" "94568571" "del" "0" "01695" "ABCA4_002197" "g.94568564_94568571del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PP3; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94103008_94103015del" "" "pathogenic" "ACMG"
"0001008734" "0" "70" "1" "94568035" "94573339" "del" "0" "01695" "ABCA4_002196" "g.94568035_94573339del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup; severity category uncertain" "SUMMARY record" "" "" "0" "" "" "g.94102479_94107783del" "" "likely pathogenic" "ACMG"
"0001008735" "0" "70" "1" "94566773" "94566773" "subst" "0" "01695" "ABCA4_000946" "g.94566773T>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS3_M, PS4, PM3_sup, PP3; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94101217T>C" "" "likely pathogenic" "ACMG"
"0001008736" "0" "30" "1" "94566756" "94566756" "subst" "0" "01695" "ABCA4_002195" "g.94566756C>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG BP4; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94101200C>G" "" "likely benign" "ACMG"
"0001008737" "0" "30" "1" "94564552" "94564552" "subst" "9.10873E-5" "01695" "ABCA4_001128" "g.94564552A>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG BP4_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94098996A>C" "" "likely benign" "ACMG"
"0001008738" "0" "90" "1" "94564545" "94564551" "del" "0" "01695" "ABCA4_000866" "g.94564545_94564551del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PM3_sup, PP3; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94098989_94098995del" "" "pathogenic" "ACMG"
"0001008739" "0" "50" "1" "94564543" "94564543" "subst" "0.000211952" "01695" "ABCA4_000945" "g.94564543G>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94098987G>A" "" "VUS" "ACMG"
"0001008740" "0" "90" "1" "94564539" "94564548" "dup" "0" "01695" "ABCA4_002194" "g.94564539_94564548dup" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PM3_sup, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94098983_94098992dup" "" "pathogenic" "ACMG"
"0001008741" "0" "50" "1" "94564531" "94564531" "subst" "8.3561E-6" "01695" "ABCA4_000986" "g.94564531G>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PP3; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94098975G>A" "" "VUS" "ACMG"
"0001008742" "0" "50" "1" "94564529" "94564529" "subst" "5.82712E-5" "01695" "ABCA4_002510" "g.94564529C>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PP3; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94098973C>G" "" "VUS" "ACMG"
"0001008743" "0" "30" "1" "94564522" "94564522" "subst" "0.000157718" "01695" "ABCA4_002193" "g.94564522G>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG BP4; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94098966G>A" "" "likely benign" "ACMG"
"0001008744" "0" "50" "1" "94564508" "94564508" "subst" "2.46494E-5" "01695" "ABCA4_000355" "g.94564508C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94098952C>T" "" "VUS" "ACMG"
"0001008745" "0" "90" "1" "94564508" "94564512" "del" "0" "01695" "ABCA4_002192" "g.94564508_94564512del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94098952_94098956del" "" "pathogenic" "ACMG"
"0001008746" "0" "50" "1" "94564507" "94564507" "subst" "0" "01695" "ABCA4_002191" "g.94564507G>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PP3; severity category uncertain" "SUMMARY record" "" "" "0" "" "" "g.94098951G>T" "" "VUS" "ACMG"
"0001008747" "0" "50" "1" "94564505" "94564505" "subst" "0" "01695" "ABCA4_002290" "g.94564505A>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94098949A>C" "" "VUS" "ACMG"
"0001008748" "0" "50" "1" "94564504" "94564504" "subst" "0" "01695" "ABCA4_002190" "g.94564504C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM3_sup, PP3_m; severity category uncertain" "SUMMARY record" "" "" "0" "" "" "g.94098948C>T" "" "VUS" "ACMG"
"0001008749" "0" "50" "1" "94564504" "94564504" "subst" "0" "01695" "ABCA4_001479" "g.94564504C>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94098948C>A" "" "VUS" "ACMG"
"0001008750" "0" "30" "1" "94564500" "94564500" "subst" "0.000643469" "01695" "ABCA4_002189" "g.94564500G>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG BP4_m, BP7; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94098944G>A" "" "likely benign" "ACMG"
"0001008751" "0" "50" "1" "94564500" "94564517" "dup" "0" "01695" "ABCA4_001395" "g.94564500_94564517dup" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM4, BP4_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94098944_94098961dup" "" "VUS" "ACMG"
"0001008752" "0" "30" "1" "94564499" "94564499" "subst" "7.78261E-5" "01695" "ABCA4_002188" "g.94564499C>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG BP4; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94098943C>G" "" "likely benign" "ACMG"
"0001008753" "0" "50" "1" "94564489" "94564489" "subst" "0" "01695" "ABCA4_002187" "g.94564489A>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM3_sup, PP3_m; severity category uncertain" "SUMMARY record" "" "" "0" "" "" "g.94098933A>T" "" "VUS" "ACMG"
"0001008754" "0" "90" "1" "94564479" "94564479" "del" "0" "01695" "ABCA4_002186" "g.94564479del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94098923del" "" "pathogenic" "ACMG"
"0001008755" "0" "90" "1" "94564466" "94564466" "subst" "0" "01695" "ABCA4_002185" "g.94564466G>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PM3, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94098910G>A" "" "pathogenic" "ACMG"
"0001008756" "0" "50" "1" "94564457" "94564457" "subst" "6.91434E-5" "01695" "ABCA4_002184" "g.94564457C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94098901C>T" "" "VUS" "ACMG"
"0001008757" "0" "30" "1" "94564446" "94564446" "subst" "0.000629989" "01695" "ABCA4_002183" "g.94564446C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG BP4_m, BP7" "SUMMARY record" "" "" "0" "" "" "g.94098890C>T" "" "likely benign" "ACMG"
"0001008758" "0" "50" "1" "94564445" "94564445" "subst" "0.000203219" "01695" "ABCA4_001127" "g.94564445C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94098889C>T" "" "VUS" "ACMG"
"0001008759" "0" "50" "1" "94564442" "94564442" "subst" "6.90894E-5" "01695" "ABCA4_002313" "g.94564442G>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PP3; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94098886G>T" "" "VUS" "ACMG"
"0001008760" "0" "50" "1" "94564442" "94564442" "subst" "4.06408E-5" "01695" "ABCA4_001126" "g.94564442G>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94098886G>A" "" "VUS" "ACMG"
"0001008761" "0" "50" "1" "94564441" "94564441" "subst" "0.000219425" "01695" "ABCA4_000944" "g.94564441C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94098885C>T" "" "VUS" "ACMG"
"0001008762" "0" "50" "1" "94564441" "94564441" "subst" "0.000203171" "01695" "ABCA4_001513" "g.94564441C>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "severity category benign" "SUMMARY record" "" "" "0" "" "" "g.94098885C>A" "" "VUS" "ACMG"
"0001008763" "0" "90" "1" "94564432" "94564432" "subst" "0" "01695" "ABCA4_001029" "g.94564432A>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4, PM3_S, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94098876A>G" "" "pathogenic" "ACMG"
"0001008764" "0" "70" "1" "94564430" "94564430" "subst" "0" "01695" "ABCA4_002182" "g.94564430A>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM3_sup, PM5, PP3_m; severity category uncertain" "SUMMARY record" "" "" "0" "" "" "g.94098874A>C" "" "likely pathogenic" "ACMG"
"0001008765" "0" "90" "1" "94564428" "94564428" "subst" "4.06207E-6" "01695" "ABCA4_002181" "g.94564428G>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PS4, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94098872G>T" "" "pathogenic" "ACMG"
"0001008766" "0" "50" "1" "94564424" "94564424" "subst" "5.6868E-5" "01695" "ABCA4_001440" "g.94564424G>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PP3; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94098868G>A" "" "VUS" "ACMG"
"0001008767" "0" "50" "1" "94564416" "94564417" "ins" "0" "01695" "ABCA4_001512" "g.94564416_94564417insGAT" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, BP4; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94098860_94098861insGAT" "" "VUS" "ACMG"
"0001008768" "0" "50" "1" "94564415" "94564416" "ins" "0" "01695" "ABCA4_002180" "g.94564415_94564416insGAT" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94098859_94098860insGAT" "" "VUS" "ACMG"
"0001008769" "0" "70" "1" "94564408" "94564408" "subst" "4.06128E-6" "01695" "ABCA4_001066" "g.94564408A>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4, PM3_sup, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94098852A>G" "" "likely pathogenic" "ACMG"
"0001008770" "0" "90" "1" "94564406" "94564406" "subst" "0" "01695" "ABCA4_001413" "g.94564406G>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94098850G>A" "" "pathogenic" "ACMG"
"0001008771" "0" "30" "1" "94564404" "94564404" "subst" "0" "01695" "ABCA4_002179" "g.94564404C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, BP4_m, BP7; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94098848C>T" "" "likely benign" "ACMG"
"0001008772" "0" "90" "1" "94564402" "94564402" "subst" "4.06118E-6" "01695" "ABCA4_002178" "g.94564402C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94098846C>T" "" "pathogenic" "ACMG"
"0001008773" "0" "70" "1" "94564399" "94564399" "subst" "0" "01695" "ABCA4_001412" "g.94564399A>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4, PM3, PP3; severity category moderate" "SUMMARY record" "" "" "0" "" "" "g.94098843A>C" "" "likely pathogenic" "ACMG"
"0001008774" "0" "90" "1" "94564392" "94564393" "dup" "0" "01695" "ABCA4_002312" "g.94564392_94564393dup" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PP3; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94098836_94098837dup" "" "pathogenic" "ACMG"
"0001008775" "0" "50" "1" "94564385" "94564385" "subst" "1.21833E-5" "01695" "ABCA4_001244" "g.94564385A>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup; severity category uncertain" "SUMMARY record" "" "" "0" "" "" "g.94098829A>G" "" "VUS" "ACMG"
"0001008776" "0" "50" "1" "94564377" "94564377" "subst" "0" "01695" "ABCA4_002177" "g.94564377G>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM5; severity category uncertain" "SUMMARY record" "" "" "0" "" "" "g.94098821G>T" "" "VUS" "ACMG"
"0001008777" "0" "90" "1" "94564374" "94564377" "del" "0" "01695" "ABCA4_001439" "g.94564374_94564377del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PS4, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94098818_94098821del" "" "pathogenic" "ACMG"
"0001008778" "0" "50" "1" "94564369" "94564371" "del" "0" "01695" "ABCA4_002176" "g.94564369_94564371del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup; severity category uncertain" "SUMMARY record" "" "" "0" "" "" "g.94098813_94098815del" "" "VUS" "ACMG"
"0001008779" "0" "90" "1" "94564367" "94564367" "del" "0" "01695" "ABCA4_002509" "g.94564367del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94098811del" "" "pathogenic" "ACMG"
"0001008780" "0" "50" "1" "94564358" "94564358" "subst" "0" "01695" "ABCA4_002175" "g.94564358A>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM3_sup; severity category mild/moderate" "SUMMARY record" "" "" "0" "" "" "g.94098802A>G" "" "VUS" "ACMG"
"0001008781" "0" "50" "1" "94564354" "94564354" "subst" "4.06171E-5" "01695" "ABCA4_001125" "g.94564354C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM3_sup; severity category uncertain" "SUMMARY record" "" "" "0" "" "" "g.94098798C>T" "" "VUS" "ACMG"
"0001008782" "0" "50" "1" "94564352" "94564352" "subst" "4.06187E-6" "01695" "ABCA4_002174" "g.94564352C>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PP3; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94098796C>A" "" "VUS" "ACMG"
"0001008783" "0" "70" "1" "94564350" "94564350" "subst" "0" "01695" "ABCA4_002173" "g.94564350C>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4, PM3_sup, PP3; causative variant of unknown severity" "SUMMARY record" "" "" "0" "" "" "g.94098794C>G" "" "likely pathogenic" "ACMG"
"0001008784" "0" "50" "1" "94564350" "94564350" "subst" "0" "01695" "ABCA4_000045" "g.94564350C>H" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94098794C>H" "" "VUS" "ACMG"
"0001008785" "0" "70" "1" "94564348" "94564348" "subst" "0" "01695" "ABCA4_002172" "g.94564348A>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94098792A>C" "" "likely pathogenic" "ACMG"
"0001008786" "0" "90" "1" "94564326" "94564359" "del" "0" "01695" "ABCA4_002171" "g.94564326_94564359del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PP3; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94098770_94098803del" "" "pathogenic" "ACMG"
"0001008787" "0" "90" "1" "94564011" "94564421" "del" "0" "01695" "ABCA4_002170" "g.94564011_94564421del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PS4, PM3; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94098455_94098865del" "" "pathogenic" "ACMG"
"0001008788" "0" "30" "1" "94563997" "94563997" "subst" "0" "01695" "ABCA4_002169" "g.94563997A>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG BP4_m" "SUMMARY record" "" "" "0" "" "" "g.94098441A>G" "" "likely benign" "ACMG"
"0001008789" "0" "30" "1" "94563992" "94563992" "subst" "0" "01695" "ABCA4_000943" "g.94563992G>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG BS3_sup, BP4_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94098436G>A" "" "likely benign" "ACMG"
"0001008790" "0" "30" "1" "94563842" "94563842" "subst" "0" "01695" "ABCA4_002168" "g.94563842T>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG BS1, BP4_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94098286T>C" "" "likely benign" "ACMG"
"0001008791" "0" "30" "1" "94563812" "94563812" "subst" "0" "01695" "ABCA4_002167" "g.94563812G>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG BP4_m" "SUMMARY record" "" "" "0" "" "" "g.94098256G>C" "" "likely benign" "ACMG"
"0001008792" "0" "90" "1" "94562912" "94569918" "del" "0" "01695" "ABCA4_002508" "g.94562912_94569918del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PM3_sup; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94097356_94104362del" "" "pathogenic" "ACMG"
"0001008793" "0" "70" "1" "94561294" "94565354" "del" "0" "01695" "ABCA4_002507" "g.94561294_94565354del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1_S, PM2_sup, PM3_sup; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94095738_94099798del" "" "likely pathogenic" "ACMG"
"0001008794" "0" "50" "1" "94553580" "94579598" "dup" "0" "01695" "ABCA4_002166" "g.94553580_94579598dup" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM3, PM4; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94088024_94114042dup" "" "VUS" "ACMG"
"0001008795" "0" "50" "1" "94549785" "94549785" "subst" "0" "01695" "ABCA4_002506" "g.94549785T>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS3_M, PM2_sup, PP3; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94084229T>A" "" "VUS" "ACMG"
"0001008796" "0" "30" "1" "94549781" "94549781" "subst" "0" "01695" "ABCA4_001046" "g.94549781G>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "reduced penetrance reported (21-40%) Runhart 2020 (PMID:32815999); variant likely underreported due to reduced penetrance and intronic location, Runhart 2019 (PMID:31618761); ACMG BP4_m; severity category benign" "SUMMARY record" "" "" "0" "" "" "g.94084225G>A" "" "likely benign" "ACMG"
"0001008797" "0" "30" "1" "94549602" "94549602" "subst" "0" "01695" "ABCA4_001070" "g.94549602A>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG BS3_sup, BP4_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94084046A>G" "" "likely benign" "ACMG"
"0001008798" "0" "50" "1" "94549000" "94549000" "subst" "0.000517603" "01695" "ABCA4_001438" "g.94549000G>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PP3; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94083444G>A" "" "VUS" "ACMG"
"0001008799" "0" "70" "1" "94548998" "94548998" "subst" "0" "01695" "ABCA4_001362" "g.94548998C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1_S, PM2_sup, PM3_sup; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94083442C>T" "" "likely pathogenic" "ACMG"
"0001008800" "0" "50" "1" "94548994" "94548994" "subst" "6.10411E-5" "01695" "ABCA4_002165" "g.94548994G>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94083438G>A" "" "VUS" "ACMG"
"0001008801" "0" "50" "1" "94548976" "94548976" "subst" "8.13292E-6" "01695" "ABCA4_001124" "g.94548976G>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94083420G>A" "" "VUS" "ACMG"
"0001008802" "0" "50" "1" "94548975" "94548975" "subst" "0.000162661" "01695" "ABCA4_001123" "g.94548975C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PP3; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94083419C>T" "" "VUS" "ACMG"
"0001008803" "0" "50" "1" "94548949" "94548949" "subst" "0" "01695" "ABCA4_002164" "g.94548949A>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94083393A>G" "" "VUS" "ACMG"
"0001008804" "0" "30" "1" "94548940" "94548940" "subst" "1.62624E-5" "01695" "ABCA4_002163" "g.94548940T>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG BP4; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94083384T>C" "" "likely benign" "ACMG"
"0001008805" "0" "90" "1" "94548934" "94548934" "del" "0" "01695" "ABCA4_000167" "g.94548934del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94083378del" "" "pathogenic" "ACMG"
"0001008806" "0" "90" "1" "94548932" "94548932" "del" "4.06587E-6" "01695" "ABCA4_001022" "g.94548932del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PS4, PM3; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94083376del" "" "pathogenic" "ACMG"
"0001008807" "0" "50" "1" "94548928" "94548928" "subst" "0.000382223" "01695" "ABCA4_002162" "g.94548928T>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "severity category benign" "SUMMARY record" "" "" "0" "" "" "g.94083372T>A" "" "VUS" "ACMG"
"0001008808" "0" "50" "1" "94548927" "94548927" "subst" "2.4398E-5" "01695" "ABCA4_002160" "g.94548927A>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94083371A>G" "" "VUS" "ACMG"
"0001008809" "0" "50" "1" "94548927" "94548927" "subst" "0" "01695" "ABCA4_002161" "g.94548927A>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4, PP3; severity category moderate/severe" "SUMMARY record" "" "" "0" "" "" "g.94083371A>C" "" "VUS" "ACMG"
"0001008810" "0" "90" "1" "94548914" "94548921" "del" "0" "01695" "ABCA4_002159" "g.94548914_94548921del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PM3, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94083358_94083365del" "" "pathogenic" "ACMG"
"0001008811" "0" "50" "1" "94548907" "94548907" "subst" "4.07126E-6" "01695" "ABCA4_001322" "g.94548907C>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1_S, PM2_sup; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94083351C>A" "" "VUS" "ACMG"
"0001008812" "0" "50" "1" "94546914" "94546914" "subst" "0" "01695" "ABCA4_002505" "g.94546914T>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS3_M, PM2_sup, PP3; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94081358T>C" "" "VUS" "ACMG"
"0001008813" "0" "50" "1" "94546820" "94546820" "subst" "0" "01695" "ABCA4_002504" "g.94546820C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS3_sup, PM2_sup, PP3; severity category moderate" "SUMMARY record" "" "" "0" "" "" "g.94081264C>T" "" "VUS" "ACMG"
"0001008814" "0" "70" "1" "94546814" "94546814" "subst" "0" "01695" "ABCA4_002158" "g.94546814G>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS3_M, PM2_sup, PM3, PP3; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94081258G>C" "" "likely pathogenic" "ACMG"
"0001008815" "0" "50" "1" "94546780" "94546780" "subst" "0" "01695" "ABCA4_001271" "g.94546780C>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS3_sup, PS4, PM3, BP4_m; severity category moderate" "SUMMARY record" "" "" "0" "" "" "g.94081224C>G" "" "VUS" "ACMG"
"0001008816" "0" "50" "1" "94546517" "94546519" "delins" "0" "01695" "ABCA4_002157" "g.94546517_94546519delinsTCA" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PP3; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94080961_94080963delinsTCA" "" "VUS" "ACMG"
"0001008817" "0" "70" "1" "94546276" "94546276" "subst" "4.08644E-6" "01695" "ABCA4_002156" "g.94546276T>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94080720T>C" "" "likely pathogenic" "ACMG"
"0001008818" "0" "70" "1" "94546264" "94546264" "subst" "4.08077E-6" "01695" "ABCA4_001352" "g.94546264C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4, PM3, PM5, BP4; severity category mild/moderate" "SUMMARY record" "" "" "0" "" "" "g.94080708C>T" "" "likely pathogenic" "ACMG"
"0001008819" "0" "50" "1" "94546259" "94546259" "subst" "0" "01695" "ABCA4_002155" "g.94546259T>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PP3; severity category uncertain" "SUMMARY record" "" "" "0" "" "" "g.94080703T>G" "" "VUS" "ACMG"
"0001008820" "0" "90" "1" "94546253" "94546253" "subst" "0" "01695" "ABCA4_001351" "g.94546253G>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PS4, PM3_sup, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94080697G>A" "" "pathogenic" "ACMG"
"0001008821" "0" "90" "1" "94546240" "94546240" "del" "0" "01695" "ABCA4_000000" "g.94546240del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PP3; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94080684del" "" "pathogenic" "ACMG"
"0001008822" "0" "70" "1" "94546231" "94546231" "del" "0" "01695" "ABCA4_002154" "g.94546231del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94080675del" "" "likely pathogenic" "ACMG"
"0001008823" "0" "50" "1" "94546222" "94546222" "subst" "0" "01695" "ABCA4_002153" "g.94546222A>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4; severity category uncertain" "SUMMARY record" "" "" "0" "" "" "g.94080666A>C" "" "VUS" "ACMG"
"0001008824" "0" "70" "1" "94546195" "94546195" "del" "0" "01695" "ABCA4_002152" "g.94546195del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94080639del" "" "likely pathogenic" "ACMG"
"0001008825" "0" "50" "1" "94546177" "94546177" "subst" "0" "01695" "ABCA4_001047" "g.94546177A>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4, PP3; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94080621A>C" "" "VUS" "ACMG"
"0001008826" "0" "50" "1" "94546174" "94546174" "subst" "0" "01695" "ABCA4_002151" "g.94546174G>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94080618G>C" "" "VUS" "ACMG"
"0001008827" "0" "50" "1" "94546163" "94546163" "subst" "0" "01695" "ABCA4_001321" "g.94546163A>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PP3_m; severity category uncertain" "SUMMARY record" "" "" "0" "" "" "g.94080607A>G" "" "VUS" "ACMG"
"0001008828" "0" "90" "1" "94546160" "94546161" "delins" "0" "01695" "ABCA4_002150" "g.94546160_94546161delinsAT" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94080604_94080605delinsAT" "" "pathogenic" "ACMG"
"0001008829" "0" "90" "1" "94546155" "94546155" "subst" "0" "01695" "ABCA4_002148" "g.94546155G>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PM3_sup, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94080599G>T" "" "pathogenic" "ACMG"
"0001008830" "0" "90" "1" "94546155" "94546155" "subst" "0" "01695" "ABCA4_002149" "g.94546155G>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PM3, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94080599G>C" "" "pathogenic" "ACMG"
"0001008831" "0" "30" "1" "94546152" "94546152" "subst" "0.000455685" "01695" "ABCA4_000942" "g.94546152G>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG BP4_m, BP7; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94080596G>A" "" "likely benign" "ACMG"
"0001008832" "0" "90" "1" "94546127" "94546127" "del" "0" "01695" "ABCA4_001320" "g.94546127del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PS4, PM3_S, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94080571del" "" "pathogenic" "ACMG"
"0001008833" "0" "50" "1" "94546117" "94546117" "subst" "0" "01695" "ABCA4_002503" "g.94546117C>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM5, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94080561C>A" "" "VUS" "ACMG"
"0001008834" "0" "90" "1" "94546116" "94546116" "subst" "0" "01695" "ABCA4_001319" "g.94546116C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PS4, PM3_sup, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94080560C>T" "" "pathogenic" "ACMG"
"0001008835" "0" "90" "1" "94546115" "94546115" "subst" "0" "01695" "ABCA4_000984" "g.94546115A>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4, PM3, PM5, PP3_m; severity category mild/moderate" "SUMMARY record" "" "" "0" "" "" "g.94080559A>G" "" "pathogenic" "ACMG"
"0001008836" "0" "70" "1" "94546114" "94546114" "subst" "0" "01695" "ABCA4_000983" "g.94546114T>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4, PM3_sup, PM5, PP3_m; severity category moderate" "SUMMARY record" "" "" "0" "" "" "g.94080558T>C" "" "likely pathogenic" "ACMG"
"0001008837" "0" "70" "1" "94546111" "94546111" "subst" "0" "01695" "ABCA4_002147" "g.94546111T>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM3_sup, PM5, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94080555T>A" "" "likely pathogenic" "ACMG"
"0001008838" "0" "90" "1" "94546105" "94546106" "del" "0" "01695" "ABCA4_002146" "g.94546105_94546106del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94080549_94080550del" "" "pathogenic" "ACMG"
"0001008839" "0" "30" "1" "94546104" "94546104" "subst" "0.00103684" "01695" "ABCA4_000941" "g.94546104A>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG BP4_m, BP7; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94080548A>G" "" "likely benign" "ACMG"
"0001008840" "0" "50" "1" "94546099" "94546099" "subst" "0" "01695" "ABCA4_001390" "g.94546099T>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM3, PP3; severity category mild/moderate" "SUMMARY record" "" "" "0" "" "" "g.94080543T>G" "" "VUS" "ACMG"
"0001008841" "0" "70" "1" "94546099" "94546099" "subst" "0" "01695" "ABCA4_001389" "g.94546099T>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS3_M, PS4, PM3_sup, PP3_m; severity category mild/moderate" "SUMMARY record" "" "" "0" "" "" "g.94080543T>C" "" "likely pathogenic" "ACMG"
"0001008842" "0" "90" "1" "94546097" "94546098" "delins" "0" "01695" "ABCA4_002145" "g.94546097_94546098delinsAT" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94080541_94080542delinsAT" "" "pathogenic" "ACMG"
"0001008843" "0" "50" "1" "94546090" "94546090" "subst" "0" "01695" "ABCA4_001511" "g.94546090A>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM3, PP3_m; severity category mild/moderate" "SUMMARY record" "" "" "0" "" "" "g.94080534A>C" "" "VUS" "ACMG"
"0001008844" "0" "90" "1" "94546086" "94546086" "del" "0" "01695" "ABCA4_002144" "g.94546086del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PS4, PP3; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94080530del" "" "pathogenic" "ACMG"
"0001008845" "0" "50" "1" "94546048" "94546048" "subst" "0" "01695" "ABCA4_000982" "g.94546048T>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94080492T>C" "" "VUS" "ACMG"
"0001008846" "0" "90" "1" "94546033" "94546033" "subst" "0" "01695" "ABCA4_000992" "g.94546033C>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PS4, PM3_sup; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94080477C>G" "" "pathogenic" "ACMG"
"0001008847" "0" "50" "1" "94546031" "94546031" "subst" "0" "01695" "ABCA4_002356" "g.94546031T>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PP3; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94080475T>G" "" "VUS" "ACMG"
"0001008848" "0" "50" "1" "94546029" "94546029" "subst" "0" "01695" "ABCA4_001318" "g.94546029C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS3_M, PM2_sup, PM3_sup, PP3; severity category uncertain" "SUMMARY record" "" "" "0" "" "" "g.94080473C>T" "" "VUS" "ACMG"
"0001008849" "0" "30" "1" "94545997" "94545997" "subst" "0.000191588" "01695" "ABCA4_002358" "g.94545997G>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG BP4_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94080441G>A" "" "likely benign" "ACMG"
"0001008850" "0" "50" "1" "94545026" "94545026" "subst" "0" "01695" "ABCA4_002143" "g.94545026A>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup; severity category uncertain" "SUMMARY record" "" "" "0" "" "" "g.94079470A>G" "" "VUS" "ACMG"
"0001008851" "0" "50" "1" "94545022" "94545022" "subst" "0" "01695" "ABCA4_002355" "g.94545022C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PP3; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94079466C>T" "" "VUS" "ACMG"
"0001008852" "0" "30" "1" "94544962" "94544962" "subst" "6.90613E-5" "01695" "ABCA4_002142" "g.94544962G>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG BP4_m, BP7; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94079406G>A" "" "likely benign" "ACMG"
"0001008853" "0" "50" "1" "94544961" "94544961" "subst" "3.65625E-5" "01695" "ABCA4_002141" "g.94544961C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94079405C>T" "" "VUS" "ACMG"
"0001008854" "0" "90" "1" "94544957" "94544957" "subst" "0" "01695" "ABCA4_001363" "g.94544957C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PM3_sup, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94079401C>T" "" "pathogenic" "ACMG"
"0001008855" "0" "90" "1" "94544956" "94544956" "subst" "0" "01695" "ABCA4_002140" "g.94544956C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94079400C>T" "" "pathogenic" "ACMG"
"0001008856" "0" "90" "1" "94544947" "94544947" "del" "0" "01695" "ABCA4_001021" "g.94544947del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94079391del" "" "pathogenic" "ACMG"
"0001008857" "0" "50" "1" "94544936" "94544936" "subst" "0" "01695" "ABCA4_002502" "g.94544936A>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94079380A>T" "" "VUS" "ACMG"
"0001008858" "0" "50" "1" "94544916" "94544916" "subst" "0" "01695" "ABCA4_001033" "g.94544916T>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4, PP3; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94079360T>G" "" "VUS" "ACMG"
"0001008859" "0" "50" "1" "94544913" "94544913" "subst" "4.06134E-6" "01695" "ABCA4_002270" "g.94544913G>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM5, PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94079357G>A" "" "VUS" "ACMG"
"0001008860" "0" "90" "1" "94544906" "94544906" "subst" "0" "01695" "ABCA4_002904" "g.94544906G>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94079350G>T" "" "pathogenic" "ACMG"
"0001008861" "0" "90" "1" "94544906" "94544906" "subst" "4.06144E-6" "01695" "ABCA4_001478" "g.94544906G>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PS4, PM3_sup, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94079350G>C" "" "pathogenic" "ACMG"
"0001008862" "0" "70" "1" "94544888" "94544888" "subst" "0" "01695" "ABCA4_001317" "g.94544888A>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4, PM3, PP3_m; severity category mild/moderate" "SUMMARY record" "" "" "0" "" "" "g.94079332A>G" "" "likely pathogenic" "ACMG"
"0001008863" "0" "70" "1" "94544885" "94544885" "subst" "0" "01695" "ABCA4_001361" "g.94544885A>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4, PM3, PP3_m; severity category mild/moderate" "SUMMARY record" "" "" "0" "" "" "g.94079329A>G" "" "likely pathogenic" "ACMG"
"0001008864" "0" "50" "1" "94544880" "94544880" "subst" "4.06101E-6" "01695" "ABCA4_001510" "g.94544880T>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PP3; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94079324T>A" "" "VUS" "ACMG"
"0001008865" "0" "90" "1" "94544877" "94544877" "subst" "0" "01695" "ABCA4_001477" "g.94544877C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PM3; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94079321C>T" "" "pathogenic" "ACMG"
"0001008866" "0" "70" "1" "94544270" "94544270" "subst" "0" "01695" "ABCA4_002138" "g.94544270C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4, PM3_sup, PP3; severity category mild/moderate" "SUMMARY record" "" "" "0" "" "" "g.94078714C>T" "" "likely pathogenic" "ACMG"
"0001008867" "0" "30" "1" "94544270" "94544270" "subst" "0.000255833" "01695" "ABCA4_002137" "g.94544270C>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG BP4_m" "SUMMARY record" "" "" "0" "" "" "g.94078714C>G" "" "likely benign" "ACMG"
"0001008868" "0" "50" "1" "94544259" "94544259" "subst" "4.06098E-6" "01695" "ABCA4_002136" "g.94544259T>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PP3_m; severity category uncertain" "SUMMARY record" "" "" "0" "" "" "g.94078703T>C" "" "VUS" "ACMG"
"0001008869" "0" "70" "1" "94544258" "94544258" "subst" "0" "01695" "ABCA4_001071" "g.94544258T>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4, PM3_sup, PM5, PP3_m; causative variant of unknown severity" "SUMMARY record" "" "" "0" "" "" "g.94078702T>C" "" "likely pathogenic" "ACMG"
"0001008870" "0" "50" "1" "94544253" "94544253" "subst" "0" "01695" "ABCA4_001075" "g.94544253T>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM3, PP3_m; severity category mild/moderate" "SUMMARY record" "" "" "0" "" "" "g.94078697T>C" "" "VUS" "ACMG"
"0001008871" "0" "50" "1" "94544250" "94544250" "subst" "0" "01695" "ABCA4_001032" "g.94544250A>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM5, PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94078694A>G" "" "VUS" "ACMG"
"0001008872" "0" "50" "1" "94544235" "94544235" "subst" "0.0001137" "01695" "ABCA4_000939" "g.94544235G>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "severity category benign" "SUMMARY record" "" "" "0" "" "" "g.94078679G>A" "" "VUS" "ACMG"
"0001008873" "0" "50" "1" "94544234" "94544234" "subst" "0" "01695" "ABCA4_000194" "g.94544234T>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94078678T>G" "" "VUS" "ACMG"
"0001008874" "0" "10" "1" "94544233" "94544233" "subst" "0.0868298" "01695" "ABCA4_000980" "g.94544233G>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG BS1, BP4_m, BP7; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94078677G>A" "" "benign" "ACMG"
"0001008875" "0" "50" "1" "94544219" "94544219" "subst" "0" "01695" "ABCA4_002134" "g.94544219A>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94078663A>T" "" "VUS" "ACMG"
"0001008876" "0" "50" "1" "94544213" "94544213" "subst" "0" "01695" "ABCA4_002133" "g.94544213G>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4, PP3; severity category moderate/severe" "SUMMARY record" "" "" "0" "" "" "g.94078657G>T" "" "VUS" "ACMG"
"0001008877" "0" "90" "1" "94544213" "94544213" "dup" "0" "01695" "ABCA4_001383" "g.94544213dup" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94078657dup" "" "pathogenic" "ACMG"
"0001008878" "0" "70" "1" "94544209" "94544209" "subst" "0" "01695" "ABCA4_002132" "g.94544209C>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4, PM3, PP3_m; severity category mild/moderate" "SUMMARY record" "" "" "0" "" "" "g.94078653C>G" "" "likely pathogenic" "ACMG"
"0001008879" "0" "70" "1" "94544201" "94544201" "subst" "0" "01695" "ABCA4_002131" "g.94544201A>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4, PM3, PP3_m; severity category moderate/severe" "SUMMARY record" "" "" "0" "" "" "g.94078645A>C" "" "likely pathogenic" "ACMG"
"0001008880" "0" "50" "1" "94544193" "94544193" "subst" "0" "01695" "ABCA4_002130" "g.94544193G>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PP3; severity category uncertain" "SUMMARY record" "" "" "0" "" "" "g.94078637G>T" "" "VUS" "ACMG"
"0001008881" "0" "90" "1" "94544184" "94544184" "del" "0" "01695" "ABCA4_001381" "g.94544184del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PM3_sup, PP3; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94078628del" "" "pathogenic" "ACMG"
"0001008882" "0" "90" "1" "94544163" "94544163" "subst" "0" "01695" "ABCA4_002129" "g.94544163G>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94078607G>A" "" "pathogenic" "ACMG"
"0001008883" "0" "50" "1" "94544159" "94544161" "del" "0" "01695" "ABCA4_001509" "g.94544159_94544161del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94078603_94078605del" "" "VUS" "ACMG"
"0001008884" "0" "50" "1" "94544151" "94544151" "subst" "0" "01695" "ABCA4_001122" "g.94544151T>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94078595T>G" "" "VUS" "ACMG"
"0001008885" "0" "90" "1" "94544148" "94544148" "dup" "0" "01695" "ABCA4_002128" "g.94544148dup" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94078592dup" "" "pathogenic" "ACMG"
"0001008886" "0" "90" "1" "94544146" "94544146" "del" "0" "01695" "ABCA4_001508" "g.94544146del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94078590del" "" "pathogenic" "ACMG"
"0001008887" "0" "50" "1" "94544145" "94544145" "subst" "0" "01695" "ABCA4_002127" "g.94544145C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1_S, PM2_sup; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94078589C>T" "" "VUS" "ACMG"
"0001008888" "0" "50" "1" "94544145" "94544145" "subst" "0" "01695" "ABCA4_002354" "g.94544145C>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1_S, PM2_sup; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94078589C>A" "" "VUS" "ACMG"
"0001008889" "0" "50" "1" "94544142" "94544142" "subst" "0" "01695" "ABCA4_001316" "g.94544142T>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4, PP3; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94078586T>C" "" "VUS" "ACMG"
"0001008890" "0" "50" "1" "94544142" "94544143" "ins" "0" "01695" "ABCA4_002126" "g.94544142_94544143insC" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PP3; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94078586_94078587insC" "" "VUS" "ACMG"
"0001008891" "0" "30" "1" "94544140" "94544141" "ins" "0.000938872" "01695" "ABCA4_001241" "g.94544140_94544141insG" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG BP4_m" "SUMMARY record" "" "" "0" "" "" "g.94078584_94078585insG" "" "likely benign" "ACMG"
"0001008892" "0" "30" "1" "94544126" "94544126" "subst" "0" "01695" "ABCA4_002125" "g.94544126C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, BP4_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94078570C>T" "" "likely benign" "ACMG"
"0001008893" "0" "70" "1" "94543445" "94543445" "subst" "0" "01695" "ABCA4_001051" "g.94543445T>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94077889T>C" "" "likely pathogenic" "ACMG"
"0001008894" "0" "50" "1" "94543443" "94543443" "subst" "0" "01695" "ABCA4_002124" "g.94543443C>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4, PP3; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94077887C>A" "" "VUS" "ACMG"
"0001008895" "0" "90" "1" "94543442" "94543443" "del" "0" "01695" "ABCA4_002123" "g.94543442_94543443del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94077886_94077887del" "" "pathogenic" "ACMG"
"0001008896" "0" "50" "1" "94543441" "94543441" "subst" "0" "01695" "ABCA4_002501" "g.94543441A>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PP3; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94077885A>C" "" "VUS" "ACMG"
"0001008897" "0" "70" "1" "94543436" "94543436" "subst" "0" "01695" "ABCA4_002121" "g.94543436A>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4, PM3_sup, PP3; severity category mild/moderate" "SUMMARY record" "" "" "0" "" "" "g.94077880A>T" "" "likely pathogenic" "ACMG"
"0001008898" "0" "50" "1" "94543436" "94543436" "subst" "0" "01695" "ABCA4_002122" "g.94543436A>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM5, PP3; severity category uncertain" "SUMMARY record" "" "" "0" "" "" "g.94077880A>G" "" "VUS" "ACMG"
"0001008899" "0" "70" "1" "94543428" "94543428" "subst" "0" "01695" "ABCA4_001315" "g.94543428G>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4, PM3; severity category mild/moderate" "SUMMARY record" "" "" "0" "" "" "g.94077872G>A" "" "likely pathogenic" "ACMG"
"0001008900" "0" "50" "1" "94543427" "94543427" "subst" "0" "01695" "ABCA4_002120" "g.94543427G>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM5, PP3; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94077871G>A" "" "VUS" "ACMG"
"0001008901" "0" "90" "1" "94543419" "94543420" "del" "0" "01695" "ABCA4_001314" "g.94543419_94543420del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PS4, PM3_sup, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94077863_94077864del" "" "pathogenic" "ACMG"
"0001008902" "0" "50" "1" "94543389" "94543389" "subst" "0" "01695" "ABCA4_001436" "g.94543389C>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM3_sup; severity category mild/moderate" "SUMMARY record" "" "" "0" "" "" "g.94077833C>G" "" "VUS" "ACMG"
"0001008903" "0" "90" "1" "94543380" "94543383" "dup" "0" "01695" "ABCA4_001187" "g.94543380_94543383dup" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PM3_sup, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94077824_94077827dup" "" "pathogenic" "ACMG"
"0001008904" "0" "90" "1" "94543348" "94543348" "del" "0" "01695" "ABCA4_001054" "g.94543348del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PS4, PP3; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94077792del" "" "pathogenic" "ACMG"
"0001008905" "0" "90" "1" "94543345" "94543345" "del" "0" "01695" "ABCA4_001350" "g.94543345del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PP3; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94077789del" "" "pathogenic" "ACMG"
"0001008906" "0" "30" "1" "94543340" "94543340" "subst" "7.71868E-5" "01695" "ABCA4_002119" "g.94543340C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG BP4; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94077784C>T" "" "likely benign" "ACMG"
"0001008907" "0" "90" "1" "94543338" "94543338" "subst" "0" "01695" "ABCA4_000109" "g.94543338C>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94077782C>A" "" "pathogenic" "ACMG"
"0001008908" "0" "50" "1" "94543308" "94543308" "subst" "2.43815E-5" "01695" "ABCA4_002118" "g.94543308C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, BP4; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94077752C>T" "" "VUS" "ACMG"
"0001008909" "0" "90" "1" "94543304" "94543304" "subst" "0" "01695" "ABCA4_001476" "g.94543304C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PS4, PM3, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94077748C>T" "" "pathogenic" "ACMG"
"0001008910" "0" "90" "1" "94543303" "94543303" "subst" "0" "01695" "ABCA4_001411" "g.94543303C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PS4, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94077747C>T" "" "pathogenic" "ACMG"
"0001008911" "0" "50" "1" "94543303" "94543303" "subst" "0" "01695" "ABCA4_002117" "g.94543303C>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PP3; severity category uncertain" "SUMMARY record" "" "" "0" "" "" "g.94077747C>G" "" "VUS" "ACMG"
"0001008912" "0" "30" "1" "94543300" "94543300" "subst" "0.000682782" "01695" "ABCA4_000935" "g.94543300C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG BP4_m, BP7; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94077744C>T" "" "likely benign" "ACMG"
"0001008913" "0" "70" "1" "94543290" "94543290" "subst" "4.06448E-6" "01695" "ABCA4_002116" "g.94543290T>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4, PM3; causative variant of unknown severity" "SUMMARY record" "" "" "0" "" "" "g.94077734T>G" "" "likely pathogenic" "ACMG"
"0001008914" "0" "70" "1" "94543288" "94543288" "dup" "0" "01695" "ABCA4_002115" "g.94543288dup" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, BP4; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94077732dup" "" "likely pathogenic" "ACMG"
"0001008915" "0" "70" "1" "94543277" "94543277" "subst" "0" "01695" "ABCA4_001042" "g.94543277C>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4, PM3; causative variant of unknown severity" "SUMMARY record" "" "" "0" "" "" "g.94077721C>G" "" "likely pathogenic" "ACMG"
"0001008916" "0" "70" "1" "94543271" "94543271" "subst" "0" "01695" "ABCA4_001507" "g.94543271A>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4, PM3_sup, PM5, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94077715A>G" "" "likely pathogenic" "ACMG"
"0001008917" "0" "50" "1" "94543262" "94543262" "subst" "1.22307E-5" "01695" "ABCA4_002114" "g.94543262A>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM3, BP4; causative variant of unknown severity" "SUMMARY record" "" "" "0" "" "" "g.94077706A>G" "" "VUS" "ACMG"
"0001008918" "0" "50" "1" "94543262" "94543262" "subst" "4.07691E-6" "01695" "ABCA4_000080" "g.94543262A>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94077706A>C" "" "VUS" "ACMG"
"0001008919" "0" "50" "1" "94543248" "94543248" "subst" "6.54247E-5" "01695" "ABCA4_002264" "g.94543248C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PP3; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94077692C>T" "" "VUS" "ACMG"
"0001008920" "0" "50" "1" "94543246" "94543246" "subst" "0" "01695" "ABCA4_000010" "g.94543246C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4, PM3_sup; severity category mild/moderate" "SUMMARY record" "" "" "0" "" "" "g.94077690C>T" "" "VUS" "ACMG"
"0001008921" "0" "50" "1" "94543243" "94543243" "subst" "0" "01695" "ABCA4_002500" "g.94543243T>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PP3; severity category mild" "SUMMARY record" "" "" "0" "" "" "g.94077687T>A" "" "VUS" "ACMG"
"0001008922" "0" "70" "1" "94534447" "94544587" "del" "0" "01695" "ABCA4_002112" "g.94534447_94544587del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1_S, PM2_sup, PM3; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94068891_94079031del" "" "likely pathogenic" "ACMG"
"0001008923" "0" "30" "1" "94531618" "94531618" "subst" "0" "01695" "ABCA4_002111" "g.94531618T>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG BP4_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94066062T>C" "" "likely benign" "ACMG"
"0001008924" "0" "50" "1" "94529689" "94529689" "subst" "0" "01695" "ABCA4_002317" "g.94529689A>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PP3; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94064133A>C" "" "VUS" "ACMG"
"0001008925" "0" "70" "1" "94528874" "94528874" "subst" "0" "01695" "ABCA4_002110" "g.94528874C>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94063318C>A" "" "likely pathogenic" "ACMG"
"0001008926" "0" "50" "1" "94528873" "94528873" "subst" "4.0714E-6" "01695" "ABCA4_002109" "g.94528873A>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM5, PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94063317A>G" "" "VUS" "ACMG"
"0001008927" "0" "70" "1" "94528872" "94528872" "subst" "0" "01695" "ABCA4_002108" "g.94528872C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4, PM3, PP3_m; causative variant of unknown severity" "SUMMARY record" "" "" "0" "" "" "g.94063316C>T" "" "likely pathogenic" "ACMG"
"0001008928" "0" "90" "1" "94528871" "94528871" "subst" "0" "01695" "ABCA4_001410" "g.94528871G>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PS4, PM3, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94063315G>T" "" "pathogenic" "ACMG"
"0001008929" "0" "90" "1" "94528866" "94528866" "del" "0" "01695" "ABCA4_002107" "g.94528866del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PS4, PM3_sup, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94063310del" "" "pathogenic" "ACMG"
"0001008930" "0" "50" "1" "94528862" "94528862" "subst" "0" "01695" "ABCA4_002106" "g.94528862C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM3_sup, BP4_m; severity category uncertain" "SUMMARY record" "" "" "0" "" "" "g.94063306C>T" "" "VUS" "ACMG"
"0001008931" "0" "70" "1" "94528854" "94528854" "subst" "0" "01695" "ABCA4_000186" "g.94528854A>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94063298A>G" "" "likely pathogenic" "ACMG"
"0001008932" "0" "90" "1" "94528844" "94528844" "subst" "0" "01695" "ABCA4_001435" "g.94528844G>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PS4, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94063288G>T" "" "pathogenic" "ACMG"
"0001008933" "0" "50" "1" "94528840" "94528840" "subst" "0" "01695" "ABCA4_002104" "g.94528840C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, BP4; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94063284C>T" "" "VUS" "ACMG"
"0001008934" "0" "90" "1" "94528831" "94528831" "subst" "0" "01695" "ABCA4_002103" "g.94528831G>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PS4, PM3, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94063275G>A" "" "pathogenic" "ACMG"
"0001008935" "0" "50" "1" "94528818" "94528818" "subst" "0.00205975" "01695" "ABCA4_001239" "g.94528818C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM5, PP3; severity category benign/mild" "SUMMARY record" "" "" "0" "" "" "g.94063262C>T" "" "VUS" "ACMG"
"0001008936" "0" "90" "1" "94528815" "94528815" "del" "0" "01695" "ABCA4_001551" "g.94528815del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PM3_sup, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94063259del" "" "pathogenic" "ACMG"
"0001008937" "0" "30" "1" "94528814" "94528814" "subst" "0.000406237" "01695" "ABCA4_000933" "g.94528814G>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG BP4_m, BP7; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94063258G>A" "" "likely benign" "ACMG"
"0001008938" "0" "50" "1" "94528813" "94528813" "subst" "1.62485E-5" "01695" "ABCA4_001121" "g.94528813G>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PP3; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94063257G>C" "" "VUS" "ACMG"
"0001008939" "0" "90" "1" "94528810" "94528813" "del" "0" "01695" "ABCA4_002102" "g.94528810_94528813del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PS4, PM3, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94063254_94063257del" "" "pathogenic" "ACMG"
"0001008940" "0" "90" "1" "94528806" "94528806" "delins" "0" "01695" "ABCA4_000020" "g.94528806delinsGG" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94063250delinsGG" "" "pathogenic" "ACMG"
"0001008941" "0" "90" "1" "94528812" "94528813" "del" "0" "01695" "ABCA4_002311" "g.94528812_94528813del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94063256_94063257del" "" "pathogenic" "ACMG"
"0001008942" "0" "50" "1" "94528795" "94528795" "subst" "0" "01695" "ABCA4_002101" "g.94528795T>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM3, PP3_m; severity category mild/moderate" "SUMMARY record" "" "" "0" "" "" "g.94063239T>A" "" "VUS" "ACMG"
"0001008943" "0" "90" "1" "94528795" "94528798" "dup" "0" "01695" "ABCA4_001550" "g.94528795_94528798dup" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PS4, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94063239_94063242dup" "" "pathogenic" "ACMG"
"0001008944" "0" "50" "1" "94528792" "94528792" "subst" "3.24942E-5" "01695" "ABCA4_002100" "g.94528792T>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94063236T>G" "" "VUS" "ACMG"
"0001008945" "0" "50" "1" "94528786" "94528786" "subst" "0" "01695" "ABCA4_002099" "g.94528786A>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM3, PP3_m; severity category uncertain" "SUMMARY record" "" "" "0" "" "" "g.94063230A>G" "" "VUS" "ACMG"
"0001008946" "0" "90" "1" "94528785" "94528785" "subst" "0" "01695" "ABCA4_001543" "g.94528785C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PS4, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94063229C>T" "" "pathogenic" "ACMG"
"0001008947" "0" "90" "1" "94528784" "94528784" "subst" "0" "01695" "ABCA4_001475" "g.94528784C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PS4, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94063228C>T" "" "pathogenic" "ACMG"
"0001008948" "0" "50" "1" "94528782" "94528782" "subst" "0" "01695" "ABCA4_001528" "g.94528782G>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM3, PP3_m; severity category uncertain" "SUMMARY record" "" "" "0" "" "" "g.94063226G>T" "" "VUS" "ACMG"
"0001008949" "0" "90" "1" "94528780" "94528780" "del" "0" "01695" "ABCA4_002098" "g.94528780del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PM3, PP3; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94063224del" "" "pathogenic" "ACMG"
"0001008950" "0" "70" "1" "94528780" "94528780" "subst" "0" "01695" "ABCA4_002096" "g.94528780C>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS1, PM2_sup, BP2, PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94063224C>G" "" "likely pathogenic" "ACMG"
"0001008951" "0" "90" "1" "94528780" "94528780" "subst" "0" "01695" "ABCA4_002097" "g.94528780C>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94063224C>A" "" "pathogenic" "ACMG"
"0001008952" "0" "30" "1" "94528775" "94528775" "subst" "0.000528009" "01695" "ABCA4_001263" "g.94528775C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG BP4_m, BP7" "SUMMARY record" "" "" "0" "" "" "g.94063219C>T" "" "likely benign" "ACMG"
"0001008953" "0" "50" "1" "94528770" "94528781" "del" "0" "01695" "ABCA4_002095" "g.94528770_94528781del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM4, BP4; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94063214_94063225del" "" "VUS" "ACMG"
"0001008954" "0" "50" "1" "94528765" "94528765" "subst" "0" "01695" "ABCA4_002094" "g.94528765C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup; severity category uncertain" "SUMMARY record" "" "" "0" "" "" "g.94063209C>T" "" "VUS" "ACMG"
"0001008955" "0" "70" "1" "94528761" "94528761" "subst" "0" "01695" "ABCA4_002093" "g.94528761A>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4, PM3, PP3_m; severity category mild/moderate" "SUMMARY record" "" "" "0" "" "" "g.94063205A>C" "" "likely pathogenic" "ACMG"
"0001008956" "0" "90" "1" "94528751" "94528751" "subst" "0" "01695" "ABCA4_002499" "g.94528751C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94063195C>T" "" "pathogenic" "ACMG"
"0001008957" "0" "50" "1" "94528751" "94528751" "subst" "0" "01695" "ABCA4_001506" "g.94528751C>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PP3; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94063195C>G" "" "VUS" "ACMG"
"0001008958" "0" "90" "1" "94528749" "94528749" "del" "0" "01695" "ABCA4_002092" "g.94528749del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94063193del" "" "pathogenic" "ACMG"
"0001008959" "0" "90" "1" "94528747" "94528747" "del" "0" "01695" "ABCA4_002091" "g.94528747del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PM3, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94063191del" "" "pathogenic" "ACMG"
"0001008960" "0" "30" "1" "94528736" "94528736" "subst" "0.000235562" "01695" "ABCA4_001237" "g.94528736T>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG BP4_m, BP7; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94063180T>C" "" "likely benign" "ACMG"
"0001008961" "0" "50" "1" "94528722" "94528722" "subst" "0" "01695" "ABCA4_002090" "g.94528722T>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94063166T>C" "" "VUS" "ACMG"
"0001008962" "0" "70" "1" "94528713" "94528713" "subst" "4.87381E-5" "01695" "ABCA4_000072" "g.94528713C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4, PM5, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94063157C>T" "" "likely pathogenic" "ACMG"
"0001008963" "0" "50" "1" "94528709" "94528709" "subst" "0" "01695" "ABCA4_001049" "g.94528709C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PP3_m; severity category mild/moderate" "SUMMARY record" "" "" "0" "" "" "g.94063153C>T" "" "VUS" "ACMG"
"0001008964" "0" "50" "1" "94528686" "94528686" "subst" "0" "01695" "ABCA4_002310" "g.94528686G>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94063130G>T" "" "VUS" "ACMG"
"0001008965" "0" "50" "1" "94528683" "94528683" "subst" "2.03095E-5" "01695" "ABCA4_002089" "g.94528683T>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94063127T>C" "" "VUS" "ACMG"
"0001008966" "0" "50" "1" "94528680" "94528680" "subst" "0" "01695" "ABCA4_002088" "g.94528680T>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM3_sup, PP3_m; severity category mild/moderate" "SUMMARY record" "" "" "0" "" "" "g.94063124T>G" "" "VUS" "ACMG"
"0001008967" "0" "90" "1" "94528675" "94528675" "del" "0" "01695" "ABCA4_002087" "g.94528675del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PM3, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94063119del" "" "pathogenic" "ACMG"
"0001008968" "0" "70" "1" "94528671" "94528671" "subst" "0" "01695" "ABCA4_001409" "g.94528671T>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94063115T>C" "" "likely pathogenic" "ACMG"
"0001008969" "0" "50" "1" "94528670" "94528670" "subst" "0" "01695" "ABCA4_001349" "g.94528670G>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94063114G>T" "" "VUS" "ACMG"
"0001008970" "0" "90" "1" "94528668" "94528668" "subst" "0" "01695" "ABCA4_001313" "g.94528668C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS3_M, PS4, PM3_S, PP3_m; severity category mild/moderate" "SUMMARY record" "" "" "0" "" "" "g.94063112C>T" "" "pathogenic" "ACMG"
"0001008971" "0" "70" "1" "94528667" "94528667" "subst" "0" "01695" "ABCA4_001073" "g.94528667C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94063111C>T" "" "likely pathogenic" "ACMG"
"0001008972" "0" "90" "1" "94528666" "94528666" "subst" "0" "01695" "ABCA4_002086" "g.94528666A>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PS4; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94063110A>G" "" "pathogenic" "ACMG"
"0001008973" "0" "30" "1" "94528359" "94528359" "subst" "0.014173" "01695" "ABCA4_002085" "g.94528359C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG BS1, BP4_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94062803C>T" "" "likely benign" "ACMG"
"0001008974" "0" "90" "1" "94528311" "94528311" "subst" "0" "01695" "ABCA4_001138" "g.94528311T>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1_S, PS4, PM3_S; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94062755T>C" "" "pathogenic" "ACMG"
"0001008975" "0" "50" "1" "94528304" "94528304" "subst" "0" "01695" "ABCA4_002498" "g.94528304C>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94062748C>G" "" "VUS" "ACMG"
"0001008976" "0" "50" "1" "94528292" "94528292" "subst" "0" "01695" "ABCA4_002084" "g.94528292G>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM3, PP3_m; severity category mild/moderate" "SUMMARY record" "" "" "0" "" "" "g.94062736G>A" "" "VUS" "ACMG"
"0001008977" "0" "70" "1" "94528287" "94528287" "subst" "0" "01695" "ABCA4_001074" "g.94528287C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4, PM3, PP3; severity category mild/moderate" "SUMMARY record" "" "" "0" "" "" "g.94062731C>T" "" "likely pathogenic" "ACMG"
"0001008978" "0" "50" "1" "94528280" "94528280" "subst" "0" "01695" "ABCA4_002083" "g.94528280G>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM3_sup, PP3_m; severity category mild/moderate" "SUMMARY record" "" "" "0" "" "" "g.94062724G>A" "" "VUS" "ACMG"
"0001008979" "0" "50" "1" "94528277" "94528277" "subst" "0" "01695" "ABCA4_001052" "g.94528277A>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94062721A>C" "" "VUS" "ACMG"
"0001008980" "0" "90" "1" "94528276" "94528276" "del" "0" "01695" "ABCA4_001527" "g.94528276del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PM3, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94062720del" "" "pathogenic" "ACMG"
"0001008981" "0" "50" "1" "94528265" "94528265" "subst" "0" "01695" "ABCA4_002497" "g.94528265C>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, BP2, PM5, PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94062709C>A" "" "VUS" "ACMG"
"0001008982" "0" "90" "1" "94528263" "94528263" "subst" "0" "01695" "ABCA4_001348" "g.94528263A>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4, PM3_S, PP3_m; severity category moderate" "SUMMARY record" "" "" "0" "" "" "g.94062707A>G" "" "pathogenic" "ACMG"
"0001008983" "0" "50" "1" "94528262" "94528262" "subst" "0" "01695" "ABCA4_002082" "g.94528262T>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM5, PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94062706T>C" "" "VUS" "ACMG"
"0001008984" "0" "50" "1" "94528259" "94528259" "subst" "0" "01695" "ABCA4_001120" "g.94528259A>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94062703A>C" "" "VUS" "ACMG"
"0001008985" "0" "50" "1" "94528258" "94528258" "subst" "0" "01695" "ABCA4_002081" "g.94528258G>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PP3; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94062702G>C" "" "VUS" "ACMG"
"0001008986" "0" "90" "1" "94528256" "94528256" "subst" "0" "01695" "ABCA4_002080" "g.94528256C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PM3, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94062700C>T" "" "pathogenic" "ACMG"
"0001008987" "0" "50" "1" "94528253" "94528253" "subst" "8.13729E-6" "01695" "ABCA4_000767" "g.94528253C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM3, PP3_m; severity category uncertain" "SUMMARY record" "" "" "0" "" "" "g.94062697C>T" "" "VUS" "ACMG"
"0001008988" "0" "30" "1" "94528252" "94528252" "subst" "0.000256369" "01695" "ABCA4_002079" "g.94528252G>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG BP4_m, BP7; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94062696G>A" "" "likely benign" "ACMG"
"0001008989" "0" "50" "1" "94528251" "94528251" "subst" "0" "01695" "ABCA4_000282" "g.94528251C>M" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS1, PM2_sup; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94062695C>M" "" "VUS" "ACMG"
"0001008990" "0" "90" "1" "94528240" "94528240" "subst" "4.06775E-6" "01695" "ABCA4_001434" "g.94528240A>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94062684A>T" "" "pathogenic" "ACMG"
"0001008991" "0" "70" "1" "94528227" "94528227" "subst" "4.06739E-6" "01695" "ABCA4_002078" "g.94528227C>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM3, PM5, PP3; severity category mild/moderate" "SUMMARY record" "" "" "0" "" "" "g.94062671C>A" "" "likely pathogenic" "ACMG"
"0001008992" "0" "70" "1" "94528226" "94528226" "subst" "0" "01695" "ABCA4_002077" "g.94528226A>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4, PM3_sup, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94062670A>G" "" "likely pathogenic" "ACMG"
"0001008993" "0" "90" "1" "94528223" "94528223" "del" "0" "01695" "ABCA4_000274" "g.94528223del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PS4, PM3_sup, PP3; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94062667del" "" "pathogenic" "ACMG"
"0001008994" "0" "50" "1" "94528217" "94528217" "subst" "0" "01695" "ABCA4_002076" "g.94528217C>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM5, PP3_m; severity category uncertain" "SUMMARY record" "" "" "0" "" "" "g.94062661C>A" "" "VUS" "ACMG"
"0001008995" "0" "90" "1" "94528213" "94528222" "del" "0" "01695" "ABCA4_002075" "g.94528213_94528222del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94062657_94062666del" "" "pathogenic" "ACMG"
"0001008996" "0" "50" "1" "94528209" "94528209" "subst" "0.000418852" "01695" "ABCA4_001505" "g.94528209T>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94062653T>C" "" "VUS" "ACMG"
"0001008997" "0" "50" "1" "94528208" "94528208" "subst" "0" "01695" "ABCA4_001119" "g.94528208C>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PP3; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94062652C>G" "" "VUS" "ACMG"
"0001008998" "0" "90" "1" "94528197" "94528197" "subst" "0" "01695" "ABCA4_001473" "g.94528197G>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PS4, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94062641G>A" "" "pathogenic" "ACMG"
"0001008999" "0" "90" "1" "94528191" "94528191" "subst" "0" "01695" "ABCA4_002074" "g.94528191C>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PM3, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94062635C>A" "" "pathogenic" "ACMG"
"0001009000" "0" "90" "1" "94528179" "94528179" "subst" "0" "01695" "ABCA4_001433" "g.94528179C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4, PM3, PM5, PP3_m; severity category uncertain" "SUMMARY record" "" "" "0" "" "" "g.94062623C>T" "" "pathogenic" "ACMG"
"0001009001" "0" "90" "1" "94528178" "94528178" "subst" "4.06666E-6" "01695" "ABCA4_001312" "g.94528178C>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4, PM3_S, PM5, PP3_m; severity category moderate" "SUMMARY record" "" "" "0" "" "" "g.94062622C>A" "" "pathogenic" "ACMG"
"0001009002" "0" "50" "1" "94528175" "94528175" "subst" "0" "01695" "ABCA4_002073" "g.94528175A>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PP3; severity category uncertain" "SUMMARY record" "" "" "0" "" "" "g.94062619A>T" "" "VUS" "ACMG"
"0001009003" "0" "70" "1" "94528164" "94528164" "subst" "0" "01695" "ABCA4_001311" "g.94528164G>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4, PM3_sup, PM5, PP3_m; severity category mild/moderate" "SUMMARY record" "" "" "0" "" "" "g.94062608G>T" "" "likely pathogenic" "ACMG"
"0001009004" "0" "50" "1" "94528158" "94528158" "subst" "4.0665E-6" "01695" "ABCA4_002072" "g.94528158G>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM3_sup, PP3_m; severity category mild/moderate" "SUMMARY record" "" "" "0" "" "" "g.94062602G>A" "" "VUS" "ACMG"
"0001009005" "0" "50" "1" "94528157" "94528157" "subst" "0" "01695" "ABCA4_001471" "g.94528157G>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94062601G>A" "" "VUS" "ACMG"
"0001009006" "0" "50" "1" "94528154" "94528154" "subst" "0" "01695" "ABCA4_002071" "g.94528154T>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94062598T>C" "" "VUS" "ACMG"
"0001009007" "0" "50" "1" "94528152" "94528152" "subst" "4.06613E-6" "01695" "ABCA4_002070" "g.94528152G>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM5, PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94062596G>C" "" "VUS" "ACMG"
"0001009008" "0" "50" "1" "94528149" "94528149" "subst" "0" "01695" "ABCA4_002068" "g.94528149A>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94062593A>G" "" "VUS" "ACMG"
"0001009009" "0" "50" "1" "94528149" "94528149" "subst" "0" "01695" "ABCA4_002069" "g.94528149A>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM3_sup, PP3_m; severity category uncertain" "SUMMARY record" "" "" "0" "" "" "g.94062593A>C" "" "VUS" "ACMG"
"0001009010" "0" "30" "1" "94528138" "94528138" "subst" "0.000833801" "01695" "ABCA4_000932" "g.94528138G>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG BP4_m, BP7; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94062582G>A" "" "likely benign" "ACMG"
"0001009011" "0" "50" "1" "94528137" "94528137" "subst" "3.2538E-5" "01695" "ABCA4_002067" "g.94528137C>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM5, PP3_m; severity category uncertain" "SUMMARY record" "" "" "0" "" "" "g.94062581C>A" "" "VUS" "ACMG"
"0001009012" "0" "50" "1" "94528132" "94528132" "subst" "0" "01695" "ABCA4_002066" "g.94528132C>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1_S, PM2_sup; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94062576C>G" "" "VUS" "ACMG"
"0001009013" "0" "70" "1" "94528128" "94528128" "subst" "0" "01695" "ABCA4_001258" "g.94528128C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS3_M, PS4, PM3_sup, PP3; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94062572C>T" "" "likely pathogenic" "ACMG"
"0001009014" "0" "50" "1" "94528120" "94528120" "subst" "0" "01695" "ABCA4_000976" "g.94528120A>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS3_M, PM2_sup, PP3; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94062564A>C" "" "VUS" "ACMG"
"0001009015" "0" "30" "1" "94528118" "94528118" "subst" "1.62801E-5" "01695" "ABCA4_002065" "g.94528118G>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, BP4_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94062562G>A" "" "likely benign" "ACMG"
"0001009016" "0" "70" "1" "94528096" "94528096" "subst" "0" "01695" "ABCA4_002496" "g.94528096G>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS3_M, PS4, PM3_sup, PP3; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94062540G>C" "" "likely pathogenic" "ACMG"
"0001009017" "0" "50" "1" "94527698" "94527698" "subst" "0" "01695" "ABCA4_001310" "g.94527698G>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4, PM3_sup, BP4_m; severity category moderate" "SUMMARY record" "" "" "0" "" "" "g.94062142G>C" "" "VUS" "ACMG"
"0001009018" "0" "70" "1" "94527518" "94529906" "delins" "0" "01695" "ABCA4_002495" "g.94527518_94529906delinsGCT" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94061962_94064350delinsGCT" "" "likely pathogenic" "ACMG"
"0001009019" "0" "30" "1" "94527129" "94527143" "del" "0" "01695" "ABCA4_001034" "g.94527129_94527143del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG BP4_m" "SUMMARY record" "" "" "0" "" "" "g.94061573_94061587del" "" "likely benign" "ACMG"
"0001009020" "0" "30" "1" "94526952" "94526952" "subst" "0" "01695" "ABCA4_002064" "g.94526952T>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG BP4_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94061396T>C" "" "likely benign" "ACMG"
"0001009021" "0" "50" "1" "94526936" "94526936" "subst" "0" "01695" "ABCA4_002494" "g.94526936C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG BS3_sup, PM2_sup, PM3_sup, PP3; severity category benign" "SUMMARY record" "" "" "0" "" "" "g.94061380C>T" "" "VUS" "ACMG"
"0001009022" "0" "70" "1" "94526934" "94526934" "subst" "0" "01695" "ABCA4_000771" "g.94526934T>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS3_M, PS4, PP3; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94061378T>C" "" "likely pathogenic" "ACMG"
"0001009023" "0" "30" "1" "94526920" "94526920" "subst" "0" "01695" "ABCA4_002063" "g.94526920G>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG BP4_m" "SUMMARY record" "" "" "0" "" "" "g.94061364G>A" "" "likely benign" "ACMG"
"0001009024" "0" "50" "1" "94526829" "94526829" "subst" "0" "01695" "ABCA4_002493" "g.94526829T>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS3_M, PM2_sup, PP3; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94061273T>C" "" "VUS" "ACMG"
"0001009025" "0" "30" "1" "94526302" "94526302" "subst" "0" "01695" "ABCA4_002342" "g.94526302G>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, BP4_m, BP7; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94060746G>A" "" "likely benign" "ACMG"
"0001009026" "0" "50" "1" "94526295" "94526295" "subst" "0" "01695" "ABCA4_001347" "g.94526295C>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM5, PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94060739C>A" "" "VUS" "ACMG"
"0001009027" "0" "90" "1" "94526291" "94526291" "del" "0" "01695" "ABCA4_002062" "g.94526291del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PM3_sup, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94060735del" "" "pathogenic" "ACMG"
"0001009028" "0" "30" "1" "94526284" "94526284" "subst" "0.000347234" "01695" "ABCA4_001118" "g.94526284T>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG BP4; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94060728T>C" "" "likely benign" "ACMG"
"0001009029" "0" "90" "1" "94526271" "94526271" "subst" "0" "01695" "ABCA4_001309" "g.94526271A>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS3_M, PS4, PM3, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94060715A>C" "" "pathogenic" "ACMG"
"0001009030" "0" "50" "1" "94526260" "94526260" "subst" "0" "01695" "ABCA4_002061" "g.94526260A>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PP3_m; severity category uncertain" "SUMMARY record" "" "" "0" "" "" "g.94060704A>C" "" "VUS" "ACMG"
"0001009031" "0" "90" "1" "94526242" "94526243" "del" "0" "01695" "ABCA4_002060" "g.94526242_94526243del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94060686_94060687del" "" "pathogenic" "ACMG"
"0001009032" "0" "90" "1" "94526225" "94526237" "del" "0" "01695" "ABCA4_002059" "g.94526225_94526237del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94060669_94060681del" "" "pathogenic" "ACMG"
"0001009033" "0" "50" "1" "94526221" "94526223" "del" "0" "01695" "ABCA4_001374" "g.94526221_94526223del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM3_sup; severity category uncertain" "SUMMARY record" "" "" "0" "" "" "g.94060665_94060667del" "" "VUS" "ACMG"
"0001009034" "0" "90" "1" "94526199" "94526199" "del" "0" "01695" "ABCA4_001526" "g.94526199del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PS4, PM3, PP3; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94060643del" "" "pathogenic" "ACMG"
"0001009035" "0" "50" "1" "94526190" "94526190" "subst" "0" "01695" "ABCA4_002058" "g.94526190T>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM3_sup; severity category uncertain" "SUMMARY record" "" "" "0" "" "" "g.94060634T>A" "" "VUS" "ACMG"
"0001009036" "0" "90" "1" "94526194" "94526194" "dup" "0" "01695" "ABCA4_001308" "g.94526194dup" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PS4, PM3_S, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94060638dup" "" "pathogenic" "ACMG"
"0001009037" "0" "50" "1" "94526174" "94526174" "subst" "0" "01695" "ABCA4_002057" "g.94526174A>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM3_sup, PP3; severity category mild/moderate" "SUMMARY record" "" "" "0" "" "" "g.94060618A>C" "" "VUS" "ACMG"
"0001009038" "0" "50" "1" "94526170" "94526170" "subst" "0" "01695" "ABCA4_002056" "g.94526170C>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94060614C>G" "" "VUS" "ACMG"
"0001009039" "0" "50" "1" "94526161" "94526161" "subst" "0" "01695" "ABCA4_002055" "g.94526161A>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4, PP3; causative variant of unknown severity" "SUMMARY record" "" "" "0" "" "" "g.94060605A>G" "" "VUS" "ACMG"
"0001009040" "0" "50" "1" "94526148" "94526148" "subst" "0" "01695" "ABCA4_002054" "g.94526148A>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM3, PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94060592A>G" "" "VUS" "ACMG"
"0001009041" "0" "30" "1" "94526126" "94526126" "subst" "1.21932E-5" "01695" "ABCA4_002053" "g.94526126C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, BP4_m, BP7; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94060570C>T" "" "likely benign" "ACMG"
"0001009042" "0" "90" "1" "94526091" "94526091" "subst" "0" "01695" "ABCA4_002052" "g.94526091A>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1_S, PS4, PM3; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94060535A>C" "" "pathogenic" "ACMG"
"0001009043" "0" "30" "1" "94525509" "94525509" "subst" "0" "01695" "ABCA4_000747" "g.94525509T>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG BS3_sup, PM2_sup, BP4_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94059953T>C" "" "likely benign" "ACMG"
"0001009044" "0" "50" "1" "94522384" "94522384" "subst" "0" "01695" "ABCA4_002051" "g.94522384A>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PP3; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94056828A>G" "" "VUS" "ACMG"
"0001009045" "0" "50" "1" "94522380" "94522380" "subst" "0" "01695" "ABCA4_002341" "g.94522380T>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1_S, PM2_sup; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94056824T>C" "" "VUS" "ACMG"
"0001009046" "0" "90" "1" "94522367" "94522370" "dup" "0" "01695" "ABCA4_002050" "g.94522367_94522370dup" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94056811_94056814dup" "" "pathogenic" "ACMG"
"0001009047" "0" "50" "1" "94522366" "94522366" "subst" "0" "01695" "ABCA4_001542" "g.94522366G>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PP3; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94056810G>T" "" "VUS" "ACMG"
"0001009048" "0" "90" "1" "94522362" "94522362" "del" "0" "01695" "ABCA4_001307" "g.94522362del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PS4, PM3_sup, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94056806del" "" "pathogenic" "ACMG"
"0001009049" "0" "50" "1" "94522355" "94522355" "subst" "0" "01695" "ABCA4_002049" "g.94522355G>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM3_sup, PP3_m; severity category uncertain" "SUMMARY record" "" "" "0" "" "" "g.94056799G>T" "" "VUS" "ACMG"
"0001009050" "0" "50" "1" "94522340" "94522348" "del" "0" "01695" "ABCA4_002048" "g.94522340_94522348del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM4; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94056784_94056792del" "" "VUS" "ACMG"
"0001009051" "0" "50" "1" "94522302" "94522302" "subst" "0" "01695" "ABCA4_002491" "g.94522302A>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM3_sup, PP3; severity category uncertain" "SUMMARY record" "" "" "0" "" "" "g.94056746A>T" "" "VUS" "ACMG"
"0001009052" "0" "90" "1" "94522296" "94522296" "delins" "0" "01695" "ABCA4_002490" "g.94522296delinsAA" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94056740delinsAA" "" "pathogenic" "ACMG"
"0001009053" "0" "70" "1" "94522290" "94522290" "subst" "0" "01695" "ABCA4_002047" "g.94522290A>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4, PM3_sup, PP3_m; causative variant of unknown severity" "SUMMARY record" "" "" "0" "" "" "g.94056734A>G" "" "likely pathogenic" "ACMG"
"0001009054" "0" "50" "1" "94522287" "94522287" "subst" "0" "01695" "ABCA4_002046" "g.94522287A>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PP3_m; severity category uncertain" "SUMMARY record" "" "" "0" "" "" "g.94056731A>G" "" "VUS" "ACMG"
"0001009055" "0" "50" "1" "94522284" "94522284" "subst" "0" "01695" "ABCA4_001431" "g.94522284C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM3_sup, PP3_m; severity category uncertain" "SUMMARY record" "" "" "0" "" "" "g.94056728C>T" "" "VUS" "ACMG"
"0001009056" "0" "70" "1" "94522278" "94522278" "subst" "0" "01695" "ABCA4_001306" "g.94522278A>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4, PM3, PP3_m; causative variant of unknown severity" "SUMMARY record" "" "" "0" "" "" "g.94056722A>G" "" "likely pathogenic" "ACMG"
"0001009057" "0" "70" "1" "94522274" "94522274" "subst" "0" "01695" "ABCA4_001470" "g.94522274G>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4, PM3_sup, PP3_m; severity category moderate/severe" "SUMMARY record" "" "" "0" "" "" "g.94056718G>C" "" "likely pathogenic" "ACMG"
"0001009058" "0" "50" "1" "94522272" "94522272" "subst" "6.92171E-5" "01695" "ABCA4_002045" "g.94522272G>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PP3; severity category uncertain" "SUMMARY record" "" "" "0" "" "" "g.94056716G>A" "" "VUS" "ACMG"
"0001009059" "0" "50" "1" "94522266" "94522266" "subst" "0" "01695" "ABCA4_001469" "g.94522266G>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PP3; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94056710G>A" "" "VUS" "ACMG"
"0001009060" "0" "70" "1" "94522257" "94522257" "subst" "0" "01695" "ABCA4_001382" "g.94522257G>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4, PP3_m; severity category moderate/severe" "SUMMARY record" "" "" "0" "" "" "g.94056701G>A" "" "likely pathogenic" "ACMG"
"0001009061" "0" "50" "1" "94522245" "94522245" "subst" "0" "01695" "ABCA4_002044" "g.94522245C>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM3_sup; severity category mild/moderate" "SUMMARY record" "" "" "0" "" "" "g.94056689C>G" "" "VUS" "ACMG"
"0001009062" "0" "90" "1" "94522243" "94522243" "dup" "0" "01695" "ABCA4_002043" "g.94522243dup" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PM3, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94056687dup" "" "pathogenic" "ACMG"
"0001009063" "0" "50" "1" "94522242" "94522242" "subst" "0" "01695" "ABCA4_001541" "g.94522242C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94056686C>T" "" "VUS" "ACMG"
"0001009064" "0" "90" "1" "94522240" "94522240" "del" "0" "01695" "ABCA4_002042" "g.94522240del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94056684del" "" "pathogenic" "ACMG"
"0001009065" "0" "50" "1" "94522228" "94522228" "subst" "6.52342E-5" "01695" "ABCA4_002041" "g.94522228T>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94056672T>A" "" "VUS" "ACMG"
"0001009066" "0" "30" "1" "94522202" "94522202" "subst" "0" "01695" "ABCA4_002040" "g.94522202G>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG BP4_m, BP7; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94056646G>A" "" "likely benign" "ACMG"
"0001009067" "0" "50" "1" "94522198" "94522198" "subst" "3.65952E-5" "01695" "ABCA4_002039" "g.94522198C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94056642C>T" "" "VUS" "ACMG"
"0001009068" "0" "90" "1" "94522192" "94522192" "subst" "0" "01695" "ABCA4_002489" "g.94522192G>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94056636G>A" "" "pathogenic" "ACMG"
"0001009069" "0" "50" "1" "94522186" "94522186" "subst" "0.000130165" "01695" "ABCA4_002037" "g.94522186G>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94056630G>C" "" "VUS" "ACMG"
"0001009070" "0" "50" "1" "94522186" "94522186" "subst" "2.03383E-5" "01695" "ABCA4_002036" "g.94522186G>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94056630G>A" "" "VUS" "ACMG"
"0001009071" "0" "90" "1" "94522186" "94522193" "dup" "0" "01695" "ABCA4_002038" "g.94522186_94522193dup" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94056630_94056637dup" "" "pathogenic" "ACMG"
"0001009072" "0" "50" "1" "94522185" "94522185" "subst" "8.14027E-6" "01695" "ABCA4_002035" "g.94522185C>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94056629C>A" "" "VUS" "ACMG"
"0001009073" "0" "70" "1" "94522157" "94522157" "subst" "0" "01695" "ABCA4_002034" "g.94522157C>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4, PM3_sup, PP3; severity category moderate/severe" "SUMMARY record" "" "" "0" "" "" "g.94056601C>G" "" "likely pathogenic" "ACMG"
"0001009074" "0" "50" "1" "94522153" "94522153" "subst" "0" "01695" "ABCA4_000974" "g.94522153T>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM3_sup, PP3; severity category uncertain" "SUMMARY record" "" "" "0" "" "" "g.94056597T>C" "" "VUS" "ACMG"
"0001009075" "0" "90" "1" "94520872" "94520872" "subst" "0" "01695" "ABCA4_001468" "g.94520872C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PS4, PM3_sup; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94055316C>T" "" "pathogenic" "ACMG"
"0001009076" "0" "90" "1" "94520872" "94520872" "subst" "0" "01695" "ABCA4_002033" "g.94520872C>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PM3; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94055316C>G" "" "pathogenic" "ACMG"
"0001009077" "0" "50" "1" "94520870" "94520870" "subst" "4.07774E-6" "01695" "ABCA4_002032" "g.94520870C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM3_sup, PM5; severity category mild/moderate" "SUMMARY record" "" "" "0" "" "" "g.94055314C>T" "" "VUS" "ACMG"
"0001009078" "0" "50" "1" "94520870" "94520870" "subst" "0" "01695" "ABCA4_001375" "g.94520870C>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM3_sup, PM5, PP3; severity category mild/moderate" "SUMMARY record" "" "" "0" "" "" "g.94055314C>A" "" "VUS" "ACMG"
"0001009079" "0" "70" "1" "94520869" "94520869" "subst" "0" "01695" "ABCA4_000729" "g.94520869G>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4, PM3, PP3; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94055313G>C" "" "likely pathogenic" "ACMG"
"0001009080" "0" "50" "1" "94520855" "94520855" "subst" "0" "01695" "ABCA4_002031" "g.94520855A>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94055299A>G" "" "VUS" "ACMG"
"0001009081" "0" "90" "1" "94520844" "94520845" "del" "0" "01695" "ABCA4_002030" "g.94520844_94520845del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PS4, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94055288_94055289del" "" "pathogenic" "ACMG"
"0001009082" "0" "50" "1" "94520841" "94520841" "subst" "0" "01695" "ABCA4_002352" "g.94520841C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM3_sup, PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94055285C>T" "" "VUS" "ACMG"
"0001009083" "0" "50" "1" "94520823" "94520823" "subst" "6.91822E-5" "01695" "ABCA4_002029" "g.94520823G>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM3, PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94055267G>A" "" "VUS" "ACMG"
"0001009084" "0" "30" "1" "94520821" "94520821" "subst" "8.13895E-6" "01695" "ABCA4_002028" "g.94520821G>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, BP4_m, BP7; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94055265G>A" "" "likely benign" "ACMG"
"0001009085" "0" "50" "1" "94520816" "94520816" "subst" "0" "01695" "ABCA4_001407" "g.94520816T>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM5, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94055260T>G" "" "VUS" "ACMG"
"0001009086" "0" "90" "1" "94520811" "94520811" "subst" "0" "01695" "ABCA4_002027" "g.94520811G>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94055255G>A" "" "pathogenic" "ACMG"
"0001009087" "0" "50" "1" "94520807" "94520807" "subst" "0" "01695" "ABCA4_002026" "g.94520807C>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94055251C>A" "" "VUS" "ACMG"
"0001009088" "0" "70" "1" "94520793" "94520793" "subst" "0" "01695" "ABCA4_000065" "g.94520793A>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS1, PM2_sup, PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94055237A>G" "" "likely pathogenic" "ACMG"
"0001009089" "0" "90" "1" "94520791" "94520791" "subst" "0" "01695" "ABCA4_000191" "g.94520791C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94055235C>T" "" "pathogenic" "ACMG"
"0001009090" "0" "30" "1" "94520790" "94520790" "subst" "4.06646E-6" "01695" "ABCA4_001117" "g.94520790T>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, BP4_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94055234T>C" "" "likely benign" "ACMG"
"0001009091" "0" "30" "1" "94520781" "94520781" "subst" "8.53867E-5" "01695" "ABCA4_001377" "g.94520781C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG BP4" "SUMMARY record" "" "" "0" "" "" "g.94055225C>T" "" "likely benign" "ACMG"
"0001009092" "0" "90" "1" "94520773" "94520773" "del" "0" "01695" "ABCA4_002025" "g.94520773del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PS4, PM3_sup; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94055217del" "" "pathogenic" "ACMG"
"0001009093" "0" "50" "1" "94520771" "94520771" "subst" "0" "01695" "ABCA4_002024" "g.94520771G>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PP3; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94055215G>A" "" "VUS" "ACMG"
"0001009094" "0" "90" "1" "94520766" "94520766" "subst" "0" "01695" "ABCA4_002023" "g.94520766C>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PM3_sup, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94055210C>A" "" "pathogenic" "ACMG"
"0001009095" "0" "50" "1" "94520760" "94520760" "subst" "0" "01695" "ABCA4_001080" "g.94520760C>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM3, PP3_m; severity category mild/moderate" "SUMMARY record" "" "" "0" "" "" "g.94055204C>A" "" "VUS" "ACMG"
"0001009096" "0" "50" "1" "94520733" "94520733" "subst" "4.06345E-6" "01695" "ABCA4_002022" "g.94520733G>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94055177G>T" "" "VUS" "ACMG"
"0001009097" "0" "50" "1" "94520732" "94520732" "subst" "0" "01695" "ABCA4_000973" "g.94520732T>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4, PM3_sup, BP4; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94055176T>G" "" "VUS" "ACMG"
"0001009098" "0" "30" "1" "94520722" "94520722" "subst" "0" "01695" "ABCA4_002021" "g.94520722G>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, BP4_m, BP7; severity category uncertain" "SUMMARY record" "" "" "0" "" "" "g.94055166G>C" "" "likely benign" "ACMG"
"0001009099" "0" "50" "1" "94520718" "94520718" "subst" "0" "01695" "ABCA4_002020" "g.94520718C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM5, PP3; severity category uncertain" "SUMMARY record" "" "" "0" "" "" "g.94055162C>T" "" "VUS" "ACMG"
"0001009100" "0" "70" "1" "94520717" "94520717" "subst" "0" "01695" "ABCA4_001367" "g.94520717T>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4, PM3, PP3_m; severity category mild/moderate" "SUMMARY record" "" "" "0" "" "" "g.94055161T>A" "" "likely pathogenic" "ACMG"
"0001009101" "0" "50" "1" "94520714" "94520714" "subst" "0" "01695" "ABCA4_002325" "g.94520714G>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PP3; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94055158G>A" "" "VUS" "ACMG"
"0001009102" "0" "90" "1" "94520698" "94520698" "del" "0" "01695" "ABCA4_002019" "g.94520698del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PM3_sup; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94055142del" "" "pathogenic" "ACMG"
"0001009103" "0" "90" "1" "94520694" "94520694" "dup" "0" "01695" "ABCA4_002018" "g.94520694dup" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94055138dup" "" "pathogenic" "ACMG"
"0001009104" "0" "70" "1" "94520688" "94520688" "subst" "0" "01695" "ABCA4_001517" "g.94520688A>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94055132A>T" "" "likely pathogenic" "ACMG"
"0001009105" "0" "70" "1" "94520684" "94520684" "subst" "0" "01695" "ABCA4_001069" "g.94520684A>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4, PM3, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94055128A>G" "" "likely pathogenic" "ACMG"
"0001009106" "0" "90" "1" "94520682" "94520682" "dup" "0" "01695" "ABCA4_002016" "g.94520682dup" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PS4, PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94055126dup" "" "pathogenic" "ACMG"
"0001009107" "0" "50" "1" "94520682" "94520682" "subst" "0" "01695" "ABCA4_002017" "g.94520682C>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94055126C>A" "" "VUS" "ACMG"
"0001009108" "0" "90" "1" "94520679" "94520679" "subst" "0" "01695" "ABCA4_002015" "g.94520679G>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94055123G>A" "" "pathogenic" "ACMG"
"0001009109" "0" "50" "1" "94520678" "94520678" "subst" "8.9367E-5" "01695" "ABCA4_002014" "g.94520678T>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94055122T>C" "" "VUS" "ACMG"
"0001009110" "0" "50" "1" "94520675" "94520675" "subst" "0" "01695" "ABCA4_002013" "g.94520675A>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94055119A>G" "" "VUS" "ACMG"
"0001009111" "0" "90" "1" "94520667" "94520667" "subst" "0" "01695" "ABCA4_002012" "g.94520667C>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94055111C>A" "" "pathogenic" "ACMG"
"0001009112" "0" "90" "1" "94520662" "94520669" "del" "0" "01695" "ABCA4_002011" "g.94520662_94520669del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PM3, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94055106_94055113del" "" "pathogenic" "ACMG"
"0001009113" "0" "90" "1" "94520661" "94520667" "del" "0" "01695" "ABCA4_002010" "g.94520661_94520667del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PM3_sup, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94055105_94055111del" "" "pathogenic" "ACMG"
"0001009114" "0" "30" "1" "94520656" "94520656" "subst" "0" "01695" "ABCA4_002009" "g.94520656A>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, BP4_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94055100A>G" "" "likely benign" "ACMG"
"0001009115" "0" "50" "1" "94517960" "94517960" "subst" "0" "01695" "ABCA4_002488" "g.94517960G>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS3_M, PM2_sup, PP3; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94052404G>A" "" "VUS" "ACMG"
"0001009116" "0" "30" "1" "94517266" "94517266" "subst" "0.00217349" "01695" "ABCA4_001057" "g.94517266G>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG BS3_sup, BP4_m" "SUMMARY record" "" "" "0" "" "" "g.94051710G>C" "" "likely benign" "ACMG"
"0001009117" "0" "50" "1" "94517259" "94517261" "delins" "0" "01695" "ABCA4_002008" "g.94517259_94517261delinsCC" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM3_sup, PP3; severity category uncertain" "SUMMARY record" "" "" "0" "" "" "g.94051703_94051705delinsCC" "" "VUS" "ACMG"
"0001009118" "0" "50" "1" "94517254" "94517254" "subst" "4.06478E-6" "01695" "ABCA4_000158" "g.94517254C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4, PP3; severity category mild/moderate" "SUMMARY record" "" "" "0" "" "" "g.94051698C>T" "" "VUS" "ACMG"
"0001009119" "0" "90" "1" "94517249" "94517249" "dup" "0" "01695" "ABCA4_002007" "g.94517249dup" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94051693dup" "" "pathogenic" "ACMG"
"0001009120" "0" "90" "1" "94517248" "94517249" "del" "0" "01695" "ABCA4_001079" "g.94517248_94517249del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PM3, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94051692_94051693del" "" "pathogenic" "ACMG"
"0001009121" "0" "90" "1" "94517242" "94517242" "del" "0" "01695" "ABCA4_002006" "g.94517242del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94051686del" "" "pathogenic" "ACMG"
"0001009122" "0" "70" "1" "94517231" "94517419" "del" "0" "01695" "ABCA4_002005" "g.94517231_94517419del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1_S, PM2_sup, PM3_sup, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94051675_94051863del" "" "likely pathogenic" "ACMG"
"0001009123" "0" "90" "1" "94517229" "94517229" "subst" "0" "01695" "ABCA4_002004" "g.94517229C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PS4, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94051673C>T" "" "pathogenic" "ACMG"
"0001009124" "0" "90" "1" "94517226" "94517226" "del" "0" "01695" "ABCA4_002003" "g.94517226del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PP3; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94051670del" "" "pathogenic" "ACMG"
"0001009125" "0" "50" "1" "94517225" "94517225" "subst" "0" "01695" "ABCA4_002002" "g.94517225A>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM5, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94051669A>T" "" "VUS" "ACMG"
"0001009126" "0" "50" "1" "94517223" "94517223" "subst" "0" "01695" "ABCA4_002295" "g.94517223A>V" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS1, PM2_sup; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94051667A>V" "" "VUS" "ACMG"
"0001009127" "0" "90" "1" "94517216" "94517216" "subst" "0" "01695" "ABCA4_001429" "g.94517216G>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PS4, PM3, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94051660G>A" "" "pathogenic" "ACMG"
"0001009128" "0" "50" "1" "94517215" "94517215" "subst" "0" "01695" "ABCA4_002001" "g.94517215T>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4, PP3; severity category uncertain" "SUMMARY record" "" "" "0" "" "" "g.94051659T>G" "" "VUS" "ACMG"
"0001009129" "0" "90" "1" "94517209" "94517209" "subst" "0" "01695" "ABCA4_002000" "g.94517209G>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94051653G>T" "" "pathogenic" "ACMG"
"0001009130" "0" "90" "1" "94517204" "94517205" "del" "0" "01695" "ABCA4_002316" "g.94517204_94517205del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94051648_94051649del" "" "pathogenic" "ACMG"
"0001009131" "0" "50" "1" "94517195" "94517195" "subst" "4.06207E-6" "01695" "ABCA4_001999" "g.94517195C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94051639C>T" "" "VUS" "ACMG"
"0001009132" "0" "50" "1" "94514521" "94514521" "subst" "8.12559E-6" "01695" "ABCA4_001234" "g.94514521A>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS3_M, PM3_sup, PP3; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94048965A>C" "" "VUS" "ACMG"
"0001009133" "0" "90" "1" "94514510" "94514510" "del" "0" "01695" "ABCA4_001998" "g.94514510del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PM3_sup, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94048954del" "" "pathogenic" "ACMG"
"0001009134" "0" "90" "1" "94514489" "94514489" "dup" "0" "01695" "ABCA4_001997" "g.94514489dup" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94048933dup" "" "pathogenic" "ACMG"
"0001009135" "0" "90" "1" "94514477" "94514477" "del" "0" "01695" "ABCA4_001996" "g.94514477del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PS4, PM3, BP4_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94048921del" "" "pathogenic" "ACMG"
"0001009136" "0" "50" "1" "94514475" "94514475" "subst" "9.74667E-5" "01695" "ABCA4_001233" "g.94514475C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "severity category benign" "SUMMARY record" "" "" "0" "" "" "g.94048919C>T" "" "VUS" "ACMG"
"0001009137" "0" "90" "1" "94514475" "94514475" "subst" "0" "01695" "ABCA4_001995" "g.94514475C>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PS4, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94048919C>A" "" "pathogenic" "ACMG"
"0001009138" "0" "90" "1" "94514436" "94514437" "del" "0" "01695" "ABCA4_001994" "g.94514436_94514437del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94048880_94048881del" "" "pathogenic" "ACMG"
"0001009139" "0" "90" "1" "94514433" "94514475" "del" "0" "01695" "ABCA4_001993" "g.94514433_94514475del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PM3_sup, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94048877_94048919del" "" "pathogenic" "ACMG"
"0001009140" "0" "70" "1" "94514424" "94514424" "subst" "4.06105E-6" "01695" "ABCA4_000972" "g.94514424C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS3_M, PS4, PM3_sup, PP3; severity category moderate" "SUMMARY record" "" "" "0" "" "" "g.94048868C>T" "" "likely pathogenic" "ACMG"
"0001009141" "0" "30" "1" "94514412" "94514412" "subst" "0.000105596" "01695" "ABCA4_001992" "g.94514412T>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG BP4_m" "SUMMARY record" "" "" "0" "" "" "g.94048856T>G" "" "likely benign" "ACMG"
"0001009142" "0" "30" "1" "94512654" "94512654" "subst" "0.000566575" "01695" "ABCA4_001116" "g.94512654G>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG BP4_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94047098G>A" "" "likely benign" "ACMG"
"0001009143" "0" "90" "1" "94512644" "94512644" "del" "0" "01695" "ABCA4_001991" "g.94512644del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94047088del" "" "pathogenic" "ACMG"
"0001009144" "0" "50" "1" "94512636" "94512636" "subst" "4.06669E-6" "01695" "ABCA4_001334" "g.94512636T>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PP3; severity category mild/moderate" "SUMMARY record" "" "" "0" "" "" "g.94047080T>G" "" "VUS" "ACMG"
"0001009145" "0" "30" "1" "94512634" "94512634" "subst" "4.87928E-5" "01695" "ABCA4_001115" "g.94512634C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG BP4; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94047078C>T" "" "likely benign" "ACMG"
"0001009146" "0" "90" "1" "94512626" "94512626" "del" "0" "01695" "ABCA4_001990" "g.94512626del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PM3_sup, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94047070del" "" "pathogenic" "ACMG"
"0001009147" "0" "90" "1" "94512619" "94512619" "subst" "0" "01695" "ABCA4_001305" "g.94512619C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PS4, PM3, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94047063C>T" "" "pathogenic" "ACMG"
"0001009148" "0" "50" "1" "94512614" "94512614" "subst" "8.12625E-6" "01695" "ABCA4_001989" "g.94512614G>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup; severity category uncertain" "SUMMARY record" "" "" "0" "" "" "g.94047058G>A" "" "VUS" "ACMG"
"0001009149" "0" "90" "1" "94512611" "94512611" "dup" "0" "01695" "ABCA4_001060" "g.94512611dup" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94047055dup" "" "pathogenic" "ACMG"
"0001009150" "0" "50" "1" "94512602" "94512602" "subst" "0" "01695" "ABCA4_001114" "g.94512602C>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM5; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94047046C>A" "" "VUS" "ACMG"
"0001009151" "0" "50" "1" "94512590" "94512593" "delins" "0" "01695" "ABCA4_002351" "g.94512590_94512593delinsA" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94047034_94047037delinsA" "" "VUS" "ACMG"
"0001009152" "0" "90" "1" "94512578" "94512578" "subst" "0" "01695" "ABCA4_001549" "g.94512578C>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PM3_sup, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94047022C>A" "" "pathogenic" "ACMG"
"0001009153" "0" "30" "1" "94512570" "94512570" "subst" "0" "01695" "ABCA4_001539" "g.94512570A>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, BP4_m, BP7; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94047014A>G" "" "likely benign" "ACMG"
"0001009154" "0" "50" "1" "94512553" "94512553" "subst" "4.06207E-6" "01695" "ABCA4_002294" "g.94512553T>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94046997T>C" "" "VUS" "ACMG"
"0001009155" "0" "50" "1" "94512551" "94512551" "subst" "1.21863E-5" "01695" "ABCA4_001492" "g.94512551G>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM3_sup; severity category uncertain" "SUMMARY record" "" "" "0" "" "" "g.94046995G>A" "" "VUS" "ACMG"
"0001009156" "0" "50" "1" "94512548" "94512548" "subst" "0" "01695" "ABCA4_001988" "g.94512548G>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM5; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94046992G>C" "" "VUS" "ACMG"
"0001009157" "0" "70" "1" "94512547" "94512547" "subst" "0" "01695" "ABCA4_001987" "g.94512547A>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4, PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94046991A>C" "" "likely pathogenic" "ACMG"
"0001009158" "0" "50" "1" "94512532" "94512532" "subst" "0" "01695" "ABCA4_001986" "g.94512532T>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94046976T>C" "" "VUS" "ACMG"
"0001009159" "0" "50" "1" "94512530" "94512530" "subst" "2.0314E-5" "01695" "ABCA4_001985" "g.94512530C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM5, PP3; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94046974C>T" "" "VUS" "ACMG"
"0001009160" "0" "50" "1" "94512525" "94512525" "subst" "0" "01695" "ABCA4_001984" "g.94512525G>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4, PM3_sup; causative variant of unknown severity" "SUMMARY record" "" "" "0" "" "" "g.94046969G>T" "" "VUS" "ACMG"
"0001009161" "0" "70" "1" "94512523" "94512523" "subst" "0" "01695" "ABCA4_001359" "g.94512523T>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM3_sup, PM5, PP3_m; severity category mild/moderate" "SUMMARY record" "" "" "0" "" "" "g.94046967T>G" "" "likely pathogenic" "ACMG"
"0001009162" "0" "50" "1" "94512522" "94512542" "del" "0" "01695" "ABCA4_001113" "g.94512522_94512542del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM4; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94046966_94046986del" "" "VUS" "ACMG"
"0001009163" "0" "50" "1" "94512518" "94512518" "subst" "8.12585E-5" "01695" "ABCA4_001230" "g.94512518T>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM3_sup, PM5, PP3_m; severity category benign" "SUMMARY record" "" "" "0" "" "" "g.94046962T>A" "" "VUS" "ACMG"
"0001009164" "0" "30" "1" "94512516" "94512516" "subst" "0.000446984" "01695" "ABCA4_000927" "g.94512516G>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG BP4_m, BP7" "SUMMARY record" "" "" "0" "" "" "g.94046960G>A" "" "likely benign" "ACMG"
"0001009165" "0" "50" "1" "94512515" "94512515" "subst" "2.03171E-5" "01695" "ABCA4_001983" "g.94512515C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94046959C>T" "" "VUS" "ACMG"
"0001009166" "0" "90" "1" "94512514" "94512514" "del" "0" "01695" "ABCA4_001442" "g.94512514del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94046958del" "" "pathogenic" "ACMG"
"0001009167" "0" "50" "1" "94512506" "94512506" "subst" "0" "01695" "ABCA4_001982" "g.94512506C>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PP3_m; severity category uncertain" "SUMMARY record" "" "" "0" "" "" "g.94046950C>G" "" "VUS" "ACMG"
"0001009168" "0" "50" "1" "94512505" "94512505" "subst" "0" "01695" "ABCA4_001981" "g.94512505C>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM3_sup, PP3_m; severity category uncertain" "SUMMARY record" "" "" "0" "" "" "g.94046949C>A" "" "VUS" "ACMG"
"0001009169" "0" "70" "1" "94512496" "94512496" "subst" "0" "01695" "ABCA4_001980" "g.94512496C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4, PM3, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94046940C>T" "" "likely pathogenic" "ACMG"
"0001009170" "0" "70" "1" "94512493" "94512493" "subst" "0" "01695" "ABCA4_001979" "g.94512493G>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4, PM3_sup, PP3_m; severity category moderate/severe" "SUMMARY record" "" "" "0" "" "" "g.94046937G>A" "" "likely pathogenic" "ACMG"
"0001009171" "0" "50" "1" "94512490" "94512490" "subst" "0" "01695" "ABCA4_002339" "g.94512490C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94046934C>T" "" "VUS" "ACMG"
"0001009172" "0" "50" "1" "94512490" "94512490" "subst" "0" "01695" "ABCA4_001978" "g.94512490C>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PP3_m; severity category uncertain" "SUMMARY record" "" "" "0" "" "" "g.94046934C>G" "" "VUS" "ACMG"
"0001009173" "0" "50" "1" "94512488" "94512488" "subst" "0" "01695" "ABCA4_001977" "g.94512488T>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM3_sup, PP3_m; severity category uncertain" "SUMMARY record" "" "" "0" "" "" "g.94046932T>C" "" "VUS" "ACMG"
"0001009174" "0" "50" "1" "94512485" "94512485" "subst" "0" "01695" "ABCA4_000681" "g.94512485T>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94046929T>G" "" "VUS" "ACMG"
"0001009175" "0" "50" "1" "94512485" "94512485" "subst" "0" "01695" "ABCA4_001370" "g.94512485T>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PP3_m; severity category uncertain" "SUMMARY record" "" "" "0" "" "" "g.94046929T>C" "" "VUS" "ACMG"
"0001009176" "0" "70" "1" "94512479" "94512479" "subst" "0" "01695" "ABCA4_002271" "g.94512479T>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM3_sup, PM5, PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94046923T>G" "" "likely pathogenic" "ACMG"
"0001009177" "0" "50" "1" "94512478" "94512478" "subst" "1.6261E-5" "01695" "ABCA4_001976" "g.94512478G>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM3_sup, PM5, PP3_m; severity category mild/moderate" "SUMMARY record" "" "" "0" "" "" "g.94046922G>A" "" "VUS" "ACMG"
"0001009178" "0" "50" "1" "94512475" "94512475" "subst" "0" "01695" "ABCA4_001975" "g.94512475A>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup; severity category uncertain" "SUMMARY record" "" "" "0" "" "" "g.94046919A>G" "" "VUS" "ACMG"
"0001009179" "0" "50" "1" "94512470" "94512470" "subst" "0" "01695" "ABCA4_001974" "g.94512470C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS3_M, PM2_sup, PP3; severity category uncertain" "SUMMARY record" "" "" "0" "" "" "g.94046914C>T" "" "VUS" "ACMG"
"0001009180" "0" "30" "1" "94511415" "94511415" "subst" "0" "01695" "ABCA4_001406" "g.94511415C>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, BP4_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94045859C>A" "" "likely benign" "ACMG"
"0001009181" "0" "50" "1" "94511184" "94511184" "subst" "0" "01695" "ABCA4_002314" "g.94511184C>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PP3; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94045628C>A" "" "VUS" "ACMG"
"0001009182" "0" "50" "1" "94511126" "94511126" "subst" "0" "01695" "ABCA4_001257" "g.94511126A>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS3_M, PM2_sup, PP3; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94045570A>T" "" "VUS" "ACMG"
"0001009183" "0" "30" "1" "94510683" "94510683" "subst" "0" "01695" "ABCA4_001973" "g.94510683G>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG BP4_m; severity category benign/mild" "SUMMARY record" "" "" "0" "" "" "g.94045127G>A" "" "likely benign" "ACMG"
"0001009184" "0" "50" "1" "94510469" "94510469" "subst" "0" "01695" "ABCA4_002324" "g.94510469A>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PP3; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94044913A>C" "" "VUS" "ACMG"
"0001009185" "0" "30" "1" "94510310" "94510310" "subst" "4.06088E-6" "01695" "ABCA4_001027" "g.94510310A>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, BP4_m; severity category mild" "SUMMARY record" "" "" "0" "" "" "g.94044754A>G" "" "likely benign" "ACMG"
"0001009186" "0" "90" "1" "94510300" "94510301" "ins" "0" "01695" "ABCA4_001972" "g.94510300_94510301insTGTGTTTGGCC" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PS4, PM3_S, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94044744_94044745insTGTGTTTGGCC" "" "pathogenic" "ACMG"
"0001009187" "0" "50" "1" "94510295" "94510295" "subst" "4.06065E-5" "01695" "ABCA4_001112" "g.94510295A>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94044739A>G" "" "VUS" "ACMG"
"0001009188" "0" "50" "1" "94510303" "94510304" "ins" "0" "01695" "ABCA4_001304" "g.94510303_94510304insTGTTTGGACCTG" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4, PM3_sup; causative variant of unknown severity" "SUMMARY record" "" "" "0" "" "" "g.94044747_94044748insTGTTTGGACCTG" "" "VUS" "ACMG"
"0001009189" "0" "50" "1" "94510289" "94510289" "subst" "0.000150245" "01695" "ABCA4_001971" "g.94510289G>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM5, PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94044733G>A" "" "VUS" "ACMG"
"0001009190" "0" "30" "1" "94510288" "94510288" "subst" "6.09102E-5" "01695" "ABCA4_001970" "g.94510288C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG BS3_sup, PM2_sup, BP4_m, BP7; severity category uncertain" "SUMMARY record" "" "" "0" "" "" "g.94044732C>T" "" "likely benign" "ACMG"
"0001009191" "0" "50" "1" "94510287" "94510287" "subst" "0" "01695" "ABCA4_001467" "g.94510287C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM5, PP3_m; severity category mild/moderate" "SUMMARY record" "" "" "0" "" "" "g.94044731C>T" "" "VUS" "ACMG"
"0001009192" "0" "50" "1" "94510279" "94510279" "subst" "0" "01695" "ABCA4_001969" "g.94510279C>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94044723C>G" "" "VUS" "ACMG"
"0001009193" "0" "50" "1" "94510265" "94510265" "subst" "0" "01695" "ABCA4_001491" "g.94510265C>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94044709C>A" "" "VUS" "ACMG"
"0001009194" "0" "50" "1" "94510259" "94510259" "subst" "0" "01695" "ABCA4_001968" "g.94510259A>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM3_sup, PP3; severity category mild/moderate" "SUMMARY record" "" "" "0" "" "" "g.94044703A>C" "" "VUS" "ACMG"
"0001009195" "0" "50" "1" "94510256" "94510256" "subst" "0" "01695" "ABCA4_001967" "g.94510256A>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM3_sup, PP3; severity category uncertain" "SUMMARY record" "" "" "0" "" "" "g.94044700A>G" "" "VUS" "ACMG"
"0001009196" "0" "50" "1" "94510254" "94510254" "subst" "7.71517E-5" "01695" "ABCA4_001490" "g.94510254C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM5; severity category uncertain" "SUMMARY record" "" "" "0" "" "" "g.94044698C>T" "" "VUS" "ACMG"
"0001009197" "0" "90" "1" "94510253" "94510253" "dup" "0" "01695" "ABCA4_001384" "g.94510253dup" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94044697dup" "" "pathogenic" "ACMG"
"0001009198" "0" "30" "1" "94510249" "94510249" "subst" "0" "01695" "ABCA4_001966" "g.94510249C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, BP4_m, BP7; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94044693C>T" "" "likely benign" "ACMG"
"0001009199" "0" "30" "1" "94510245" "94510245" "subst" "0" "01695" "ABCA4_002898" "g.94510245T>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, BP4_m, BP7; severity category uncertain" "SUMMARY record" "" "" "0" "" "" "g.94044689T>G" "" "likely benign" "ACMG"
"0001009200" "0" "50" "1" "94510239" "94510239" "subst" "1.21819E-5" "01695" "ABCA4_002289" "g.94510239T>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PP3; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94044683T>C" "" "VUS" "ACMG"
"0001009201" "0" "90" "1" "94510228" "94510228" "dup" "0" "01695" "ABCA4_002398" "g.94510228dup" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94044672dup" "" "pathogenic" "ACMG"
"0001009202" "0" "90" "1" "94510223" "94510223" "del" "0" "01695" "ABCA4_001303" "g.94510223del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PM3_sup, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94044667del" "" "pathogenic" "ACMG"
"0001009203" "0" "90" "1" "94510212" "94510212" "dup" "0" "01695" "ABCA4_001964" "g.94510212dup" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94044656dup" "" "pathogenic" "ACMG"
"0001009204" "0" "70" "1" "94510205" "94510205" "del" "0" "01695" "ABCA4_002338" "g.94510205del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94044649del" "" "likely pathogenic" "ACMG"
"0001009205" "0" "50" "1" "94510202" "94510202" "subst" "0" "01695" "ABCA4_001355" "g.94510202C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PP3_m; severity category uncertain" "SUMMARY record" "" "" "0" "" "" "g.94044646C>T" "" "VUS" "ACMG"
"0001009206" "0" "50" "1" "94510202" "94510202" "subst" "0" "01695" "ABCA4_001504" "g.94510202C>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM3_sup, PP3_m; severity category mild/moderate" "SUMMARY record" "" "" "0" "" "" "g.94044646C>A" "" "VUS" "ACMG"
"0001009207" "0" "70" "1" "94510192" "94510192" "del" "0" "01695" "ABCA4_001346" "g.94510192del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94044636del" "" "likely pathogenic" "ACMG"
"0001009208" "0" "90" "1" "94510191" "94510191" "subst" "0" "01695" "ABCA4_001963" "g.94510191G>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PM3, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94044635G>A" "" "pathogenic" "ACMG"
"0001009209" "0" "70" "1" "94510185" "94510187" "del" "0" "01695" "ABCA4_001962" "g.94510185_94510187del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4, PM3; causative variant of unknown severity" "SUMMARY record" "" "" "0" "" "" "g.94044629_94044631del" "" "likely pathogenic" "ACMG"
"0001009210" "0" "50" "1" "94510176" "94510176" "subst" "4.06078E-6" "01695" "ABCA4_001961" "g.94510176A>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94044620A>T" "" "VUS" "ACMG"
"0001009211" "0" "50" "1" "94510176" "94510176" "subst" "0" "01695" "ABCA4_000663" "g.94510176A>S" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94044620A>S" "" "VUS" "ACMG"
"0001009212" "0" "70" "1" "94510168" "94510168" "subst" "0" "01695" "ABCA4_001525" "g.94510168C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1_S, PS4; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94044612C>T" "" "likely pathogenic" "ACMG"
"0001009213" "0" "50" "1" "94509799" "94509799" "subst" "0" "01695" "ABCA4_000925" "g.94509799G>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS3_M, PM2_sup, PM3_sup, PP3; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94044243G>A" "" "VUS" "ACMG"
"0001009214" "0" "50" "1" "94509049" "94509067" "del" "0" "01695" "ABCA4_001960" "g.94509049_94509067del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM3_sup, PP3; severity category mild/moderate" "SUMMARY record" "" "" "0" "" "" "g.94043493_94043511del" "" "VUS" "ACMG"
"0001009215" "0" "50" "1" "94509047" "94509047" "subst" "0" "01695" "ABCA4_001959" "g.94509047A>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS3_M, PM2_sup, PP3; severity category uncertain" "SUMMARY record" "" "" "0" "" "" "g.94043491A>T" "" "VUS" "ACMG"
"0001009216" "0" "30" "1" "94509045" "94509045" "subst" "0.00234728" "01695" "ABCA4_001958" "g.94509045A>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG BS1, BP4_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94043489A>T" "" "likely benign" "ACMG"
"0001009217" "0" "90" "1" "94509033" "94509033" "subst" "0" "01695" "ABCA4_001957" "g.94509033T>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PS4; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94043477T>C" "" "pathogenic" "ACMG"
"0001009218" "0" "90" "1" "94509032" "94509032" "subst" "0" "01695" "ABCA4_001354" "g.94509032C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PS4, PM3_sup; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94043476C>T" "" "pathogenic" "ACMG"
"0001009219" "0" "50" "1" "94509023" "94509023" "subst" "0" "01695" "ABCA4_001956" "g.94509023A>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94043467A>T" "" "VUS" "ACMG"
"0001009220" "0" "70" "1" "94509011" "94509011" "subst" "0" "01695" "ABCA4_002487" "g.94509011A>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM3_sup, PM5, PP3_m; severity category mild/moderate" "SUMMARY record" "" "" "0" "" "" "g.94043455A>T" "" "likely pathogenic" "ACMG"
"0001009221" "0" "50" "1" "94509006" "94509006" "subst" "3.65717E-5" "01695" "ABCA4_001538" "g.94509006A>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "severity category moderate/severe" "SUMMARY record" "" "" "0" "" "" "g.94043450A>G" "" "VUS" "ACMG"
"0001009222" "0" "50" "1" "94509002" "94509002" "subst" "0" "01695" "ABCA4_001955" "g.94509002T>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM3_sup, PP3_m; severity category uncertain" "SUMMARY record" "" "" "0" "" "" "g.94043446T>C" "" "VUS" "ACMG"
"0001009223" "0" "90" "1" "94509001" "94509001" "subst" "0" "01695" "ABCA4_001405" "g.94509001A>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PS4, PM3_sup, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94043445A>C" "" "pathogenic" "ACMG"
"0001009224" "0" "50" "1" "94508999" "94508999" "subst" "0" "01695" "ABCA4_002323" "g.94508999G>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94043443G>T" "" "VUS" "ACMG"
"0001009225" "0" "50" "1" "94508996" "94508996" "subst" "0" "01695" "ABCA4_001302" "g.94508996T>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM3_sup, PP3; severity category uncertain" "SUMMARY record" "" "" "0" "" "" "g.94043440T>G" "" "VUS" "ACMG"
"0001009226" "0" "70" "1" "94508993" "94508993" "subst" "0" "01695" "ABCA4_001954" "g.94508993A>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4, PM3, PP3_m; severity category mild/moderate" "SUMMARY record" "" "" "0" "" "" "g.94043437A>T" "" "likely pathogenic" "ACMG"
"0001009227" "0" "50" "1" "94508993" "94508993" "subst" "0" "01695" "ABCA4_001301" "g.94508993A>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM3_sup, PP3_m; severity category uncertain" "SUMMARY record" "" "" "0" "" "" "g.94043437A>C" "" "VUS" "ACMG"
"0001009228" "0" "90" "1" "94508991" "94508991" "del" "0" "01695" "ABCA4_001953" "g.94508991del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PP3; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94043435del" "" "pathogenic" "ACMG"
"0001009229" "0" "50" "1" "94508988" "94508988" "subst" "4.06349E-6" "01695" "ABCA4_001952" "g.94508988C>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM3, PP3_m; severity category mild/moderate" "SUMMARY record" "" "" "0" "" "" "g.94043432C>G" "" "VUS" "ACMG"
"0001009230" "0" "50" "1" "94508986" "94508986" "subst" "1.62537E-5" "01695" "ABCA4_001951" "g.94508986T>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PP3; severity category uncertain" "SUMMARY record" "" "" "0" "" "" "g.94043430T>A" "" "VUS" "ACMG"
"0001009231" "0" "90" "1" "94508986" "94508986" "del" "0" "01695" "ABCA4_001428" "g.94508986del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PS4, PP3; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94043430del" "" "pathogenic" "ACMG"
"0001009232" "0" "50" "1" "94508985" "94508985" "subst" "1.21906E-5" "01695" "ABCA4_001950" "g.94508985T>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, BP4; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94043429T>C" "" "VUS" "ACMG"
"0001009233" "0" "90" "1" "94508978" "94508978" "del" "0" "01695" "ABCA4_002337" "g.94508978del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PP3; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94043422del" "" "pathogenic" "ACMG"
"0001009234" "0" "50" "1" "94508965" "94508965" "subst" "0" "01695" "ABCA4_001111" "g.94508965C>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94043409C>G" "" "VUS" "ACMG"
"0001009235" "0" "50" "1" "94508963" "94508963" "subst" "8.12645E-6" "01695" "ABCA4_001110" "g.94508963A>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94043407A>G" "" "VUS" "ACMG"
"0001009236" "0" "50" "1" "94508948" "94508948" "subst" "4.06336E-6" "01695" "ABCA4_001949" "g.94508948A>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PP3; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94043392A>G" "" "VUS" "ACMG"
"0001009237" "0" "90" "1" "94508947" "94508948" "ins" "0" "01695" "ABCA4_001379" "g.94508947_94508948insT" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PS4, PM3, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94043391_94043392insT" "" "pathogenic" "ACMG"
"0001009238" "0" "50" "1" "94508945" "94508945" "subst" "0" "01695" "ABCA4_000104" "g.94508945A>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94043389A>C" "" "VUS" "ACMG"
"0001009239" "0" "50" "1" "94508944" "94508944" "subst" "0" "01695" "ABCA4_001948" "g.94508944C>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94043388C>A" "" "VUS" "ACMG"
"0001009240" "0" "50" "1" "94508918" "94508918" "subst" "0.000121946" "01695" "ABCA4_001109" "g.94508918C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94043362C>T" "" "VUS" "ACMG"
"0001009241" "0" "90" "1" "94508904" "94508904" "subst" "0" "01695" "ABCA4_001345" "g.94508904G>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94043348G>A" "" "pathogenic" "ACMG"
"0001009242" "0" "50" "1" "94508903" "94508903" "subst" "8.1318E-6" "01695" "ABCA4_002309" "g.94508903T>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94043347T>G" "" "VUS" "ACMG"
"0001009243" "0" "50" "1" "94508898" "94508898" "subst" "8.13173E-6" "01695" "ABCA4_001947" "g.94508898G>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM3_sup, PP3; severity category mild/moderate" "SUMMARY record" "" "" "0" "" "" "g.94043342G>T" "" "VUS" "ACMG"
"0001009244" "0" "50" "1" "94508893" "94508909" "delins" "0" "01695" "ABCA4_001946" "g.94508893_94508909delinsACAAC" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM4, PP3_m; severity category uncertain" "SUMMARY record" "" "" "0" "" "" "g.94043337_94043353delinsACAAC" "" "VUS" "ACMG"
"0001009245" "0" "70" "1" "94508892" "94508892" "subst" "0" "01695" "ABCA4_001378" "g.94508892C>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4, PM3, PP3_m; severity category moderate" "SUMMARY record" "" "" "0" "" "" "g.94043336C>G" "" "likely pathogenic" "ACMG"
"0001009246" "0" "90" "1" "94508891" "94508891" "subst" "0" "01695" "ABCA4_001945" "g.94508891C>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PM3; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94043335C>G" "" "pathogenic" "ACMG"
"0001009247" "0" "30" "1" "94508871" "94508871" "subst" "0" "01695" "ABCA4_001944" "g.94508871T>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, BP4_m; severity category uncertain" "SUMMARY record" "" "" "0" "" "" "g.94043315T>C" "" "likely benign" "ACMG"
"0001009248" "0" "30" "1" "94508473" "94508473" "subst" "8.53457E-5" "01695" "ABCA4_001041" "g.94508473C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG BS3_sup, BP4_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94042917C>T" "" "likely benign" "ACMG"
"0001009249" "0" "50" "1" "94508465" "94508465" "subst" "0" "01695" "ABCA4_001943" "g.94508465A>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS3_M, PM2_sup, PP3; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94042909A>T" "" "VUS" "ACMG"
"0001009250" "0" "90" "1" "94508454" "94508456" "del" "0" "01695" "ABCA4_000006" "g.94508454_94508456del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PS4, PM3, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94042898_94042900del" "" "pathogenic" "ACMG"
"0001009251" "0" "70" "1" "94508451" "94508451" "subst" "0" "01695" "ABCA4_001942" "g.94508451C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4, PP3_m; severity category uncertain" "SUMMARY record" "" "" "0" "" "" "g.94042895C>T" "" "likely pathogenic" "ACMG"
"0001009252" "0" "70" "1" "94508448" "94508448" "subst" "4.06147E-6" "01695" "ABCA4_001941" "g.94508448A>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4, PM3, PP3_m; causative variant of unknown severity" "SUMMARY record" "" "" "0" "" "" "g.94042892A>C" "" "likely pathogenic" "ACMG"
"0001009253" "0" "50" "1" "94508441" "94508441" "subst" "0" "01695" "ABCA4_001940" "g.94508441T>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PP3_m; severity category uncertain" "SUMMARY record" "" "" "0" "" "" "g.94042885T>A" "" "VUS" "ACMG"
"0001009254" "0" "50" "1" "94508440" "94508440" "subst" "0" "01695" "ABCA4_001939" "g.94508440T>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM3_sup, PP3_m; severity category uncertain" "SUMMARY record" "" "" "0" "" "" "g.94042884T>G" "" "VUS" "ACMG"
"0001009255" "0" "30" "1" "94508435" "94508435" "subst" "4.06108E-6" "01695" "ABCA4_001938" "g.94508435C>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, BP4_m, BP7; severity category uncertain" "SUMMARY record" "" "" "0" "" "" "g.94042879C>G" "" "likely benign" "ACMG"
"0001009256" "0" "50" "1" "94508434" "94508434" "subst" "8.12236E-6" "01695" "ABCA4_001503" "g.94508434A>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM5, PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94042878A>G" "" "VUS" "ACMG"
"0001009257" "0" "90" "1" "94508434" "94508435" "ins" "0" "01695" "ABCA4_001404" "g.94508434_94508435insAC" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94042878_94042879insAC" "" "pathogenic" "ACMG"
"0001009258" "0" "90" "1" "94508433" "94508433" "subst" "0" "01695" "ABCA4_001300" "g.94508433G>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PM3_sup, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94042877G>T" "" "pathogenic" "ACMG"
"0001009259" "0" "30" "1" "94508432" "94508432" "subst" "0.000138077" "01695" "ABCA4_001226" "g.94508432C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG BP4_m, BP7; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94042876C>T" "" "likely benign" "ACMG"
"0001009260" "0" "30" "1" "94508425" "94508425" "subst" "0" "01695" "ABCA4_001937" "g.94508425T>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, BP2, BP4; severity category uncertain" "SUMMARY record" "" "" "0" "" "" "g.94042869T>G" "" "likely benign" "ACMG"
"0001009261" "0" "50" "1" "94508421" "94508421" "subst" "0" "01695" "ABCA4_001936" "g.94508421G>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94042865G>T" "" "VUS" "ACMG"
"0001009262" "0" "50" "1" "94508409" "94508409" "subst" "0" "01695" "ABCA4_001935" "g.94508409T>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM3_sup, PP3_m; severity category uncertain" "SUMMARY record" "" "" "0" "" "" "g.94042853T>A" "" "VUS" "ACMG"
"0001009263" "0" "50" "1" "94508404" "94508404" "subst" "0" "01695" "ABCA4_001934" "g.94508404T>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM3_sup, PP3_m; severity category mild/moderate" "SUMMARY record" "" "" "0" "" "" "g.94042848T>C" "" "VUS" "ACMG"
"0001009264" "0" "50" "1" "94508402" "94508402" "subst" "0" "01695" "ABCA4_001427" "g.94508402C>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM3_sup, PP3; severity category mild/moderate" "SUMMARY record" "" "" "0" "" "" "g.94042846C>A" "" "VUS" "ACMG"
"0001009265" "0" "50" "1" "94508394" "94508394" "subst" "0" "01695" "ABCA4_001933" "g.94508394A>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PP3_m; severity category uncertain" "SUMMARY record" "" "" "0" "" "" "g.94042838A>G" "" "VUS" "ACMG"
"0001009266" "0" "50" "1" "94508385" "94508385" "subst" "4.06095E-6" "01695" "ABCA4_001932" "g.94508385T>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM5, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94042829T>C" "" "VUS" "ACMG"
"0001009267" "0" "70" "1" "94508383" "94508383" "subst" "0" "01695" "ABCA4_001299" "g.94508383G>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4, PM3, PP3_m; severity category mild/moderate" "SUMMARY record" "" "" "0" "" "" "g.94042827G>T" "" "likely pathogenic" "ACMG"
"0001009268" "0" "50" "1" "94508383" "94508383" "subst" "0" "01695" "ABCA4_001931" "g.94508383G>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM5, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94042827G>A" "" "VUS" "ACMG"
"0001009269" "0" "50" "1" "94508371" "94508371" "subst" "2.03057E-5" "01695" "ABCA4_002343" "g.94508371C>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PP3; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94042815C>A" "" "VUS" "ACMG"
"0001009270" "0" "90" "1" "94508368" "94508368" "subst" "0" "01695" "ABCA4_001930" "g.94508368C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4, PM3, PM5, PP3_m; severity category mild/moderate" "SUMMARY record" "" "" "0" "" "" "g.94042812C>T" "" "pathogenic" "ACMG"
"0001009271" "0" "50" "1" "94508367" "94508367" "subst" "0" "01695" "ABCA4_001502" "g.94508367T>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM5, PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94042811T>G" "" "VUS" "ACMG"
"0001009272" "0" "70" "1" "94508367" "94508367" "subst" "0" "01695" "ABCA4_001929" "g.94508367T>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM3, PM5, PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94042811T>C" "" "likely pathogenic" "ACMG"
"0001009273" "0" "90" "1" "94508366" "94508366" "del" "0" "01695" "ABCA4_001928" "g.94508366del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94042810del" "" "pathogenic" "ACMG"
"0001009274" "0" "50" "1" "94508365" "94508365" "subst" "0" "01695" "ABCA4_001927" "g.94508365G>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PP3_m; severity category uncertain" "SUMMARY record" "" "" "0" "" "" "g.94042809G>T" "" "VUS" "ACMG"
"0001009275" "0" "30" "1" "94508360" "94508360" "subst" "0.000117779" "01695" "ABCA4_001926" "g.94508360G>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG BP4_m, BP7; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94042804G>A" "" "likely benign" "ACMG"
"0001009276" "0" "90" "1" "94508349" "94508349" "subst" "0" "01695" "ABCA4_001072" "g.94508349G>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PS4, PM3, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94042793G>C" "" "pathogenic" "ACMG"
"0001009277" "0" "50" "1" "94508346" "94508346" "subst" "0" "01695" "ABCA4_001925" "g.94508346A>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM5, PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94042790A>G" "" "VUS" "ACMG"
"0001009278" "0" "90" "1" "94508343" "94508343" "subst" "4.06197E-6" "01695" "ABCA4_001924" "g.94508343C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94042787C>T" "" "pathogenic" "ACMG"
"0001009279" "0" "90" "1" "94508341" "94508341" "subst" "1.21857E-5" "01695" "ABCA4_001298" "g.94508341C>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4, PM3, PM5, PP3_m; severity category mild/moderate" "SUMMARY record" "" "" "0" "" "" "g.94042785C>A" "" "pathogenic" "ACMG"
"0001009280" "0" "50" "1" "94508340" "94508340" "subst" "0" "01695" "ABCA4_001923" "g.94508340T>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM5, PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94042784T>G" "" "VUS" "ACMG"
"0001009281" "0" "50" "1" "94508337" "94508337" "subst" "0" "01695" "ABCA4_001922" "g.94508337A>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM3, PP3_m; severity category uncertain" "SUMMARY record" "" "" "0" "" "" "g.94042781A>G" "" "VUS" "ACMG"
"0001009282" "0" "70" "1" "94508334" "94508334" "subst" "0" "01695" "ABCA4_001921" "g.94508334A>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4, PM3_sup, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94042778A>G" "" "likely pathogenic" "ACMG"
"0001009283" "0" "90" "1" "94508330" "94508330" "del" "0" "01695" "ABCA4_002486" "g.94508330del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PS4, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94042774del" "" "pathogenic" "ACMG"
"0001009284" "0" "90" "1" "94508322" "94508322" "del" "0" "01695" "ABCA4_002308" "g.94508322del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94042766del" "" "pathogenic" "ACMG"
"0001009285" "0" "90" "1" "94508322" "94508322" "subst" "0" "01695" "ABCA4_001920" "g.94508322C>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4, PM3, PM5, PP3_m; causative variant of unknown severity" "SUMMARY record" "" "" "0" "" "" "g.94042766C>A" "" "pathogenic" "ACMG"
"0001009286" "0" "90" "1" "94508316" "94508316" "subst" "0" "01695" "ABCA4_001918" "g.94508316C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PS4; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94042760C>T" "" "pathogenic" "ACMG"
"0001009287" "0" "90" "1" "94508316" "94508316" "subst" "0" "01695" "ABCA4_000053" "g.94508316C>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PS4; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94042760C>G" "" "pathogenic" "ACMG"
"0001009288" "0" "90" "1" "94508316" "94508317" "delins" "0" "01695" "ABCA4_001919" "g.94508316_94508317delinsTT" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94042760_94042761delinsTT" "" "pathogenic" "ACMG"
"0001009289" "0" "90" "1" "94508315" "94508315" "subst" "0" "01695" "ABCA4_001917" "g.94508315A>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PS4; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94042759A>T" "" "pathogenic" "ACMG"
"0001009290" "0" "70" "1" "94507707" "94510220" "del" "0" "01695" "ABCA4_001445" "g.94507707_94510220del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94042151_94044664del" "" "likely pathogenic" "ACMG"
"0001009291" "0" "70" "1" "94507682" "94511705" "del" "0" "01695" "ABCA4_001916" "g.94507682_94511705del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94042126_94046149del" "" "likely pathogenic" "ACMG"
"0001009292" "0" "30" "1" "94506975" "94506975" "subst" "4.06227E-6" "01695" "ABCA4_001915" "g.94506975A>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, BP4_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94041419A>C" "" "likely benign" "ACMG"
"0001009293" "0" "50" "1" "94506969" "94506969" "subst" "7.31166E-5" "01695" "ABCA4_001914" "g.94506969G>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PP3; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94041413G>A" "" "VUS" "ACMG"
"0001009294" "0" "50" "1" "94506961" "94506961" "subst" "0" "01695" "ABCA4_001913" "g.94506961G>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM3_sup, PP3; severity category mild/moderate" "SUMMARY record" "" "" "0" "" "" "g.94041405G>C" "" "VUS" "ACMG"
"0001009295" "0" "50" "1" "94506960" "94506960" "subst" "8.12334E-6" "01695" "ABCA4_001912" "g.94506960T>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1_M, PM2_sup, PM3; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94041404T>A" "" "VUS" "ACMG"
"0001009296" "0" "70" "1" "94506959" "94506959" "subst" "8.12321E-6" "01695" "ABCA4_001078" "g.94506959C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1_M, PS4, PM3; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94041403C>T" "" "likely pathogenic" "ACMG"
"0001009297" "0" "50" "1" "94506958" "94506958" "subst" "0" "01695" "ABCA4_001911" "g.94506958C>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PP3_m; severity category uncertain" "SUMMARY record" "" "" "0" "" "" "g.94041402C>A" "" "VUS" "ACMG"
"0001009298" "0" "30" "1" "94506957" "94506957" "subst" "1.21849E-5" "01695" "ABCA4_001910" "g.94506957G>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, BP4_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94041401G>T" "" "likely benign" "ACMG"
"0001009299" "0" "50" "1" "94506953" "94506953" "subst" "0" "01695" "ABCA4_001909" "g.94506953T>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94041397T>C" "" "VUS" "ACMG"
"0001009300" "0" "90" "1" "94506945" "94506945" "del" "0" "01695" "ABCA4_001516" "g.94506945del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PS4, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94041389del" "" "pathogenic" "ACMG"
"0001009301" "0" "50" "1" "94506943" "94506943" "subst" "8.12183E-6" "01695" "ABCA4_001061" "g.94506943A>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PP3_m; severity category uncertain" "SUMMARY record" "" "" "0" "" "" "g.94041387A>G" "" "VUS" "ACMG"
"0001009302" "0" "50" "1" "94506949" "94506951" "del" "0" "01695" "ABCA4_001344" "g.94506949_94506951del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM3_sup; severity category uncertain" "SUMMARY record" "" "" "0" "" "" "g.94041393_94041395del" "" "VUS" "ACMG"
"0001009303" "0" "90" "1" "94506941" "94506953" "del" "0" "01695" "ABCA4_001908" "g.94506941_94506953del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PM3, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94041385_94041397del" "" "pathogenic" "ACMG"
"0001009304" "0" "50" "1" "94506940" "94506940" "subst" "0" "01695" "ABCA4_001907" "g.94506940G>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PP3_m; severity category uncertain" "SUMMARY record" "" "" "0" "" "" "g.94041384G>A" "" "VUS" "ACMG"
"0001009305" "0" "50" "1" "94506938" "94506938" "subst" "0" "01695" "ABCA4_001343" "g.94506938T>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM3_sup, PP3_m; severity category mild/moderate" "SUMMARY record" "" "" "0" "" "" "g.94041382T>C" "" "VUS" "ACMG"
"0001009306" "0" "50" "1" "94506935" "94506935" "subst" "0" "01695" "ABCA4_001466" "g.94506935G>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM5, PP3_m; severity category mild/moderate" "SUMMARY record" "" "" "0" "" "" "g.94041379G>C" "" "VUS" "ACMG"
"0001009307" "0" "90" "1" "94506923" "94506923" "subst" "0" "01695" "ABCA4_002279" "g.94506923C>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PM3_sup, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94041367C>A" "" "pathogenic" "ACMG"
"0001009308" "0" "70" "1" "94506910" "94506910" "subst" "0" "01695" "ABCA4_001465" "g.94506910A>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM3_sup, PM5, PP3_m; severity category mild/moderate" "SUMMARY record" "" "" "0" "" "" "g.94041354A>T" "" "likely pathogenic" "ACMG"
"0001009309" "0" "70" "1" "94506910" "94506910" "subst" "0" "01695" "ABCA4_001297" "g.94506910A>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM3_sup, PM5, PP3_m; severity category mild/moderate" "SUMMARY record" "" "" "0" "" "" "g.94041354A>C" "" "likely pathogenic" "ACMG"
"0001009310" "0" "70" "1" "94506908" "94506908" "subst" "0" "01695" "ABCA4_001905" "g.94506908C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4, PM3_sup, PM5, PP3_m; severity category uncertain" "SUMMARY record" "" "" "0" "" "" "g.94041352C>T" "" "likely pathogenic" "ACMG"
"0001009311" "0" "70" "1" "94506904" "94506904" "subst" "0" "01695" "ABCA4_001176" "g.94506904T>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4, PM3, PP3_m; severity category moderate" "SUMMARY record" "" "" "0" "" "" "g.94041348T>C" "" "likely pathogenic" "ACMG"
"0001009312" "0" "70" "1" "94506898" "94506898" "subst" "0" "01695" "ABCA4_001904" "g.94506898A>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4, PP3_m; causative variant of unknown severity" "SUMMARY record" "" "" "0" "" "" "g.94041342A>G" "" "likely pathogenic" "ACMG"
"0001009313" "0" "50" "1" "94506892" "94506892" "subst" "0" "01695" "ABCA4_001501" "g.94506892A>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94041336A>G" "" "VUS" "ACMG"
"0001009314" "0" "90" "1" "94506884" "94506884" "subst" "0" "01695" "ABCA4_001903" "g.94506884G>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94041328G>A" "" "pathogenic" "ACMG"
"0001009315" "0" "70" "1" "94506880" "94506880" "subst" "0" "01695" "ABCA4_001902" "g.94506880C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4, PM3_sup, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94041324C>T" "" "likely pathogenic" "ACMG"
"0001009316" "0" "50" "1" "94506880" "94506880" "subst" "0" "01695" "ABCA4_000865" "g.94506880C>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM5, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94041324C>A" "" "VUS" "ACMG"
"0001009317" "0" "50" "1" "94506878" "94506878" "subst" "4.06081E-6" "01695" "ABCA4_001901" "g.94506878T>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, BP4; severity category mild/moderate" "SUMMARY record" "" "" "0" "" "" "g.94041322T>C" "" "VUS" "ACMG"
"0001009318" "0" "90" "1" "94506874" "94506874" "subst" "0" "01695" "ABCA4_001900" "g.94506874A>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4, PM3_S, PP3_m; severity category mild/moderate" "SUMMARY record" "" "" "0" "" "" "g.94041318A>T" "" "pathogenic" "ACMG"
"0001009319" "0" "30" "1" "94506873" "94506873" "subst" "4.06085E-6" "01695" "ABCA4_001899" "g.94506873G>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, BP4_m, BP7; severity category uncertain" "SUMMARY record" "" "" "0" "" "" "g.94041317G>C" "" "likely benign" "ACMG"
"0001009320" "0" "30" "1" "94506871" "94506871" "subst" "7.30964E-5" "01695" "ABCA4_000103" "g.94506871T>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG BP4; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94041315T>C" "" "likely benign" "ACMG"
"0001009321" "0" "90" "1" "94506867" "94506867" "subst" "0" "01695" "ABCA4_001296" "g.94506867G>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4, PM3_V, PP3_m; causative variant of unknown severity" "SUMMARY record" "" "" "0" "" "" "g.94041311G>C" "" "pathogenic" "ACMG"
"0001009322" "0" "50" "1" "94506859" "94506859" "subst" "8.12163E-6" "01695" "ABCA4_001464" "g.94506859G>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94041303G>T" "" "VUS" "ACMG"
"0001009323" "0" "50" "1" "94506825" "94506825" "subst" "0" "01695" "ABCA4_001898" "g.94506825G>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4, PP3; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94041269G>A" "" "VUS" "ACMG"
"0001009324" "0" "90" "1" "94506819" "94506819" "subst" "0" "01695" "ABCA4_001426" "g.94506819G>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PS4, PM3_sup, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94041263G>C" "" "pathogenic" "ACMG"
"0001009325" "0" "30" "1" "94506819" "94506819" "subst" "0.000105583" "01695" "ABCA4_001897" "g.94506819G>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG BP4_m, BP7; severity category mild" "SUMMARY record" "" "" "0" "" "" "g.94041263G>A" "" "likely benign" "ACMG"
"0001009326" "0" "90" "1" "94506817" "94506817" "subst" "0" "01695" "ABCA4_001342" "g.94506817A>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PS4, PM3, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94041261A>C" "" "pathogenic" "ACMG"
"0001009327" "0" "70" "1" "94506811" "94506811" "subst" "0" "01695" "ABCA4_001295" "g.94506811A>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4, PM3_S; severity category moderate" "SUMMARY record" "" "" "0" "" "" "g.94041255A>G" "" "likely pathogenic" "ACMG"
"0001009328" "0" "50" "1" "94506806" "94506806" "subst" "2.84278E-5" "01695" "ABCA4_001896" "g.94506806G>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM5, PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94041250G>A" "" "VUS" "ACMG"
"0001009329" "0" "70" "1" "94506805" "94506805" "subst" "2.03051E-5" "01695" "ABCA4_001294" "g.94506805C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4, PM3_S, PP3; severity category moderate" "SUMMARY record" "" "" "0" "" "" "g.94041249C>T" "" "likely pathogenic" "ACMG"
"0001009330" "0" "50" "1" "94506805" "94506805" "subst" "0" "01695" "ABCA4_002275" "g.94506805C>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM5; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94041249C>A" "" "VUS" "ACMG"
"0001009331" "0" "90" "1" "94506789" "94506789" "del" "0" "01695" "ABCA4_001086" "g.94506789del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94041233del" "" "pathogenic" "ACMG"
"0001009332" "0" "90" "1" "94506764" "94506764" "subst" "0" "01695" "ABCA4_001173" "g.94506764C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PS4, PM3_sup; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94041208C>T" "" "pathogenic" "ACMG"
"0001009333" "0" "70" "1" "94506764" "94506764" "subst" "8.12269E-6" "01695" "ABCA4_001895" "g.94506764C>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94041208C>A" "" "likely pathogenic" "ACMG"
"0001009334" "0" "50" "1" "94506759" "94506759" "subst" "0" "01695" "ABCA4_001894" "g.94506759A>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM3_sup, BP4_m; severity category mild/moderate" "SUMMARY record" "" "" "0" "" "" "g.94041203A>G" "" "VUS" "ACMG"
"0001009335" "0" "30" "1" "94505711" "94505711" "subst" "0.00425289" "01695" "ABCA4_000612" "g.94505711A>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG BP4_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94040155A>G" "" "likely benign" "ACMG"
"0001009336" "0" "90" "1" "94505685" "94505685" "subst" "0" "01695" "ABCA4_001893" "g.94505685T>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM3; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94040129T>C" "" "pathogenic" "ACMG"
"0001009337" "0" "90" "1" "94505684" "94505684" "del" "0" "01695" "ABCA4_001892" "g.94505684del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PS4, PM3_sup, PP3; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94040128del" "" "pathogenic" "ACMG"
"0001009338" "0" "90" "1" "94505675" "94505675" "del" "0" "01695" "ABCA4_001037" "g.94505675del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94040119del" "" "pathogenic" "ACMG"
"0001009339" "0" "30" "1" "94505666" "94505666" "subst" "3.80685E-5" "01695" "ABCA4_001891" "g.94505666C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM3, BP4_m, BP7; severity category uncertain" "SUMMARY record" "" "" "0" "" "" "g.94040110C>T" "" "likely benign" "ACMG"
"0001009340" "0" "30" "1" "94505659" "94505659" "subst" "0.000942724" "01695" "ABCA4_000921" "g.94505659C>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG BP4" "SUMMARY record" "" "" "0" "" "" "g.94040103C>A" "" "likely benign" "ACMG"
"0001009341" "0" "90" "1" "94505651" "94505652" "delins" "0" "01695" "ABCA4_001890" "g.94505651_94505652delinsTC" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PM3_sup, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94040095_94040096delinsTC" "" "pathogenic" "ACMG"
"0001009342" "0" "30" "1" "94505624" "94505624" "subst" "0" "01695" "ABCA4_001889" "g.94505624G>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, BP4_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94040068G>T" "" "likely benign" "ACMG"
"0001009343" "0" "90" "1" "94505622" "94505623" "ins" "0" "01695" "ABCA4_001888" "g.94505622_94505623insCA" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PM3_sup; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94040066_94040067insCA" "" "pathogenic" "ACMG"
"0001009344" "0" "70" "1" "94505622" "94505623" "ins" "0" "01695" "ABCA4_001425" "g.94505622_94505623insAC" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94040066_94040067insAC" "" "likely pathogenic" "ACMG"
"0001009345" "0" "90" "1" "94505611" "94505611" "subst" "0" "01695" "ABCA4_001887" "g.94505611G>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94040055G>A" "" "pathogenic" "ACMG"
"0001009346" "0" "50" "1" "94505602" "94505602" "subst" "0" "01695" "ABCA4_001273" "g.94505602C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94040046C>T" "" "VUS" "ACMG"
"0001009347" "0" "50" "1" "94505600" "94505600" "subst" "0" "01695" "ABCA4_001886" "g.94505600A>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM3_sup; severity category uncertain" "SUMMARY record" "" "" "0" "" "" "g.94040044A>T" "" "VUS" "ACMG"
"0001009348" "0" "30" "1" "94505600" "94505600" "subst" "0" "01695" "ABCA4_001885" "g.94505600A>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, BP4_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94040044A>G" "" "likely benign" "ACMG"
"0001009349" "0" "50" "1" "94505599" "94505599" "subst" "0" "01695" "ABCA4_001884" "g.94505599C>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM3, PP3; severity category uncertain" "SUMMARY record" "" "" "0" "" "" "g.94040043C>A" "" "VUS" "ACMG"
"0001009350" "0" "30" "1" "94502913" "94502913" "subst" "4.08664E-6" "01695" "ABCA4_001256" "g.94502913C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG BS3_sup, BP4_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94037357C>T" "" "likely benign" "ACMG"
"0001009351" "0" "90" "1" "94502907" "94502907" "subst" "0" "01695" "ABCA4_001883" "g.94502907C>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PS4, PM3; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94037351C>G" "" "pathogenic" "ACMG"
"0001009352" "0" "50" "1" "94502904" "94502904" "subst" "2.03899E-5" "01695" "ABCA4_000604" "g.94502904C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4; severity category moderate/severe" "SUMMARY record" "" "" "0" "" "" "g.94037348C>T" "" "VUS" "ACMG"
"0001009353" "0" "50" "1" "94502891" "94502891" "subst" "0" "01695" "ABCA4_001882" "g.94502891A>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94037335A>C" "" "VUS" "ACMG"
"0001009354" "0" "30" "1" "94502889" "94502889" "subst" "4.0706E-6" "01695" "ABCA4_001108" "g.94502889T>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG BP4_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94037333T>G" "" "likely benign" "ACMG"
"0001009355" "0" "50" "1" "94502880" "94502880" "subst" "0" "01695" "ABCA4_001293" "g.94502880C>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4, PP3; severity category moderate/severe" "SUMMARY record" "" "" "0" "" "" "g.94037324C>A" "" "VUS" "ACMG"
"0001009356" "0" "70" "1" "94502873" "94502875" "del" "0" "01695" "ABCA4_001881" "g.94502873_94502875del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4, PM3_sup, PP3; severity category moderate" "SUMMARY record" "" "" "0" "" "" "g.94037317_94037319del" "" "likely pathogenic" "ACMG"
"0001009357" "0" "90" "1" "94502848" "94502848" "dup" "0" "01695" "ABCA4_001085" "g.94502848dup" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94037292dup" "" "pathogenic" "ACMG"
"0001009358" "0" "50" "1" "94502844" "94502844" "subst" "1.21954E-5" "01695" "ABCA4_001880" "g.94502844A>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94037288A>C" "" "VUS" "ACMG"
"0001009359" "0" "50" "1" "94502832" "94502832" "subst" "0" "01695" "ABCA4_001341" "g.94502832C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PP3_m; severity category uncertain" "SUMMARY record" "" "" "0" "" "" "g.94037276C>T" "" "VUS" "ACMG"
"0001009360" "0" "90" "1" "94502832" "94502832" "subst" "0" "01695" "ABCA4_001879" "g.94502832C>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PS4, PM3_sup, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94037276C>A" "" "pathogenic" "ACMG"
"0001009361" "0" "70" "1" "94502813" "94502813" "subst" "4.06458E-6" "01695" "ABCA4_001878" "g.94502813G>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4, PP3_m; severity category moderate/severe" "SUMMARY record" "" "" "0" "" "" "g.94037257G>A" "" "likely pathogenic" "ACMG"
"0001009362" "0" "50" "1" "94502811" "94502811" "subst" "0" "01695" "ABCA4_001877" "g.94502811T>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4, PP3; severity category mild/moderate" "SUMMARY record" "" "" "0" "" "" "g.94037255T>C" "" "VUS" "ACMG"
"0001009363" "0" "50" "1" "94502787" "94502787" "subst" "0" "01695" "ABCA4_001107" "g.94502787A>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94037231A>C" "" "VUS" "ACMG"
"0001009364" "0" "50" "1" "94502784" "94502784" "subst" "1.21904E-5" "01695" "ABCA4_001876" "g.94502784C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94037228C>T" "" "VUS" "ACMG"
"0001009365" "0" "50" "1" "94502780" "94502780" "subst" "4.06336E-6" "01695" "ABCA4_000969" "g.94502780C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, BP4; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94037224C>T" "" "VUS" "ACMG"
"0001009366" "0" "90" "1" "94502762" "94502762" "del" "0" "01695" "ABCA4_002350" "g.94502762del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94037206del" "" "pathogenic" "ACMG"
"0001009367" "0" "50" "1" "94502759" "94502759" "subst" "2.03143E-5" "01695" "ABCA4_001875" "g.94502759T>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94037203T>A" "" "VUS" "ACMG"
"0001009368" "0" "30" "1" "94502755" "94502755" "subst" "0.000528202" "01695" "ABCA4_001223" "g.94502755C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG BP4_m, BP7; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94037199C>T" "" "likely benign" "ACMG"
"0001009369" "0" "90" "1" "94502746" "94502747" "dup" "0" "01695" "ABCA4_001874" "g.94502746_94502747dup" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94037190_94037191dup" "" "pathogenic" "ACMG"
"0001009370" "0" "50" "1" "94502737" "94502737" "subst" "0" "01695" "ABCA4_001292" "g.94502737G>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4, PM3, BP4_m, BP7; causative variant of unknown severity" "SUMMARY record" "" "" "0" "" "" "g.94037181G>C" "" "VUS" "ACMG"
"0001009371" "0" "50" "1" "94502729" "94502729" "subst" "0" "01695" "ABCA4_002336" "g.94502729A>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94037173A>G" "" "VUS" "ACMG"
"0001009372" "0" "50" "1" "94502720" "94502720" "subst" "0" "01695" "ABCA4_002485" "g.94502720G>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94037164G>C" "" "VUS" "ACMG"
"0001009373" "0" "50" "1" "94502715" "94502715" "subst" "0" "01695" "ABCA4_001463" "g.94502715T>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94037159T>C" "" "VUS" "ACMG"
"0001009374" "0" "50" "1" "94502708" "94502708" "subst" "0" "01695" "ABCA4_001873" "g.94502708A>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM3_sup, PP3_m; severity category mild/moderate" "SUMMARY record" "" "" "0" "" "" "g.94037152A>G" "" "VUS" "ACMG"
"0001009375" "0" "70" "1" "94502703" "94502703" "subst" "0" "01695" "ABCA4_001872" "g.94502703C>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94037147C>G" "" "likely pathogenic" "ACMG"
"0001009376" "0" "50" "1" "94502701" "94502701" "subst" "0" "01695" "ABCA4_001870" "g.94502701C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PP3; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94037145C>T" "" "VUS" "ACMG"
"0001009377" "0" "50" "1" "94502701" "94502701" "subst" "0" "01695" "ABCA4_001871" "g.94502701C>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM5, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94037145C>A" "" "VUS" "ACMG"
"0001009378" "0" "90" "1" "94502700" "94502700" "subst" "0" "01695" "ABCA4_001868" "g.94502700C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PM3; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94037144C>T" "" "pathogenic" "ACMG"
"0001009379" "0" "70" "1" "94502700" "94502700" "subst" "0" "01695" "ABCA4_001869" "g.94502700C>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94037144C>A" "" "likely pathogenic" "ACMG"
"0001009380" "0" "50" "1" "94502343" "94502343" "subst" "0" "01695" "ABCA4_001867" "g.94502343A>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94036787A>G" "" "VUS" "ACMG"
"0001009381" "0" "50" "1" "94502333" "94502333" "subst" "0" "01695" "ABCA4_001866" "g.94502333C>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94036777C>G" "" "VUS" "ACMG"
"0001009382" "0" "50" "1" "94502328" "94502328" "subst" "0.000255854" "01695" "ABCA4_001035" "g.94502328G>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG BP2, PP3_m; severity category benign" "SUMMARY record" "" "" "0" "" "" "g.94036772G>A" "" "VUS" "ACMG"
"0001009383" "0" "90" "1" "94502326" "94502326" "subst" "0" "01695" "ABCA4_001865" "g.94502326C>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94036770C>A" "" "pathogenic" "ACMG"
"0001009384" "0" "70" "1" "94502296" "94502296" "subst" "4.06072E-6" "01695" "ABCA4_002484" "g.94502296C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4, PM3, PP3; severity category mild" "SUMMARY record" "" "" "0" "" "" "g.94036740C>T" "" "likely pathogenic" "ACMG"
"0001009385" "0" "30" "1" "94498663" "94498663" "subst" "0" "01695" "ABCA4_002483" "g.94498663T>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG BP4_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94033107T>C" "" "likely benign" "ACMG"
"0001009386" "0" "50" "1" "94497613" "94497613" "subst" "0.000118927" "01695" "ABCA4_001864" "g.94497613T>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PP3; severity category benign/mild" "SUMMARY record" "" "" "0" "" "" "g.94032057T>C" "" "VUS" "ACMG"
"0001009387" "0" "50" "1" "94497586" "94497586" "subst" "2.49047E-5" "01695" "ABCA4_001863" "g.94497586C>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM3_sup, BP4; severity category mild/moderate" "SUMMARY record" "" "" "0" "" "" "g.94032030C>G" "" "VUS" "ACMG"
"0001009388" "0" "90" "1" "94497581" "94497582" "del" "0" "01695" "ABCA4_001862" "g.94497581_94497582del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PM3_sup; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94032025_94032026del" "" "pathogenic" "ACMG"
"0001009389" "0" "50" "1" "94497579" "94497579" "subst" "4.13373E-6" "01695" "ABCA4_001860" "g.94497579C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94032023C>T" "" "VUS" "ACMG"
"0001009390" "0" "90" "1" "94497579" "94497583" "del" "0" "01695" "ABCA4_001861" "g.94497579_94497583del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PM3, PP3; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94032023_94032027del" "" "pathogenic" "ACMG"
"0001009391" "0" "30" "1" "94497562" "94497562" "subst" "0" "01695" "ABCA4_000917" "g.94497562T>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, BP4_m, BP7; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94032006T>C" "" "likely benign" "ACMG"
"0001009392" "0" "90" "1" "94497514" "94497524" "delins" "0" "01695" "ABCA4_001088" "g.94497514_94497524delinsCCC" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PP3; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94031958_94031968delinsCCC" "" "pathogenic" "ACMG"
"0001009393" "0" "90" "1" "94497496" "94497496" "del" "0" "01695" "ABCA4_001859" "g.94497496del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PS4, BP4_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94031940del" "" "pathogenic" "ACMG"
"0001009394" "0" "70" "1" "94497478" "94497478" "del" "0" "01695" "ABCA4_001858" "g.94497478del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94031922del" "" "likely pathogenic" "ACMG"
"0001009395" "0" "70" "1" "94497477" "94497480" "del" "0" "01695" "ABCA4_001441" "g.94497477_94497480del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94031921_94031924del" "" "likely pathogenic" "ACMG"
"0001009396" "0" "50" "1" "94497447" "94497470" "dup" "0" "01695" "ABCA4_001857" "g.94497447_94497470dup" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4, BP4_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94031891_94031914dup" "" "VUS" "ACMG"
"0001009397" "0" "50" "1" "94497432" "94497432" "subst" "5.69907E-5" "01695" "ABCA4_002335" "g.94497432G>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94031876G>C" "" "VUS" "ACMG"
"0001009398" "0" "50" "1" "94497428" "94497428" "subst" "1.22128E-5" "01695" "ABCA4_001489" "g.94497428T>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94031872T>C" "" "VUS" "ACMG"
"0001009399" "0" "70" "1" "94497418" "94497418" "dup" "0" "01695" "ABCA4_001855" "g.94497418dup" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94031862dup" "" "likely pathogenic" "ACMG"
"0001009400" "0" "90" "1" "94497417" "94497417" "subst" "0" "01695" "ABCA4_001854" "g.94497417G>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PM3_sup, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94031861G>A" "" "pathogenic" "ACMG"
"0001009401" "0" "50" "1" "94497403" "94497403" "subst" "0" "01695" "ABCA4_001853" "g.94497403C>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PP3; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94031847C>G" "" "VUS" "ACMG"
"0001009402" "0" "50" "1" "94497401" "94497401" "subst" "0" "01695" "ABCA4_001852" "g.94497401T>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PP3; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94031845T>G" "" "VUS" "ACMG"
"0001009403" "0" "90" "1" "94497396" "94497396" "subst" "0" "01695" "ABCA4_001291" "g.94497396G>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PS4, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94031840G>A" "" "pathogenic" "ACMG"
"0001009404" "0" "50" "1" "94497386" "94497386" "subst" "0" "01695" "ABCA4_002334" "g.94497386A>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94031830A>G" "" "VUS" "ACMG"
"0001009405" "0" "50" "1" "94497383" "94497383" "subst" "0" "01695" "ABCA4_001106" "g.94497383A>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94031827A>G" "" "VUS" "ACMG"
"0001009406" "0" "50" "1" "94497370" "94497370" "subst" "0" "01695" "ABCA4_001851" "g.94497370T>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, BP4; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94031814T>G" "" "VUS" "ACMG"
"0001009407" "0" "90" "1" "94497351" "94497351" "subst" "0" "01695" "ABCA4_001850" "g.94497351T>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PM3_sup, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94031795T>A" "" "pathogenic" "ACMG"
"0001009408" "0" "50" "1" "94497349" "94497349" "subst" "0" "01695" "ABCA4_001849" "g.94497349C>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM3, PP3; severity category mild/moderate" "SUMMARY record" "" "" "0" "" "" "g.94031793C>A" "" "VUS" "ACMG"
"0001009409" "0" "70" "1" "94497338" "94497338" "subst" "4.09836E-6" "01695" "ABCA4_001462" "g.94497338G>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4, PM3_sup, PP3_m; severity category mild/moderate" "SUMMARY record" "" "" "0" "" "" "g.94031782G>T" "" "likely pathogenic" "ACMG"
"0001009410" "0" "90" "1" "94497336" "94497336" "subst" "0" "01695" "ABCA4_001848" "g.94497336G>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PS4, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94031780G>A" "" "pathogenic" "ACMG"
"0001009411" "0" "70" "1" "94497334" "94497334" "subst" "0" "01695" "ABCA4_001076" "g.94497334C>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS3_M, PS4, PP3; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94031778C>G" "" "likely pathogenic" "ACMG"
"0001009412" "0" "70" "1" "94497333" "94497333" "subst" "0" "01695" "ABCA4_001221" "g.94497333C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1_M, PS4, PM3_sup; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94031777C>T" "" "likely pathogenic" "ACMG"
"0001009413" "0" "50" "1" "94497333" "94497333" "subst" "0" "01695" "ABCA4_001847" "g.94497333C>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1_M, PM2_sup, PM3; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94031777C>A" "" "VUS" "ACMG"
"0001009414" "0" "50" "1" "94497318" "94497318" "subst" "0.000775308" "01695" "ABCA4_001846" "g.94497318C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG BS3_sup, PP3; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94031762C>T" "" "VUS" "ACMG"
"0001009415" "0" "30" "1" "94496693" "94496693" "subst" "0.000163035" "01695" "ABCA4_001845" "g.94496693G>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG BP4_m" "SUMMARY record" "" "" "0" "" "" "g.94031137G>A" "" "likely benign" "ACMG"
"0001009416" "0" "50" "1" "94496679" "94496679" "subst" "0" "01695" "ABCA4_001844" "g.94496679G>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM3, PP3; severity category mild/moderate" "SUMMARY record" "" "" "0" "" "" "g.94031123G>T" "" "VUS" "ACMG"
"0001009417" "0" "50" "1" "94496679" "94496679" "subst" "0" "01695" "ABCA4_002482" "g.94496679G>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PP3; severity category mild" "SUMMARY record" "" "" "0" "" "" "g.94031123G>A" "" "VUS" "ACMG"
"0001009418" "0" "70" "1" "94496677" "94496677" "subst" "0" "01695" "ABCA4_001403" "g.94496677C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94031121C>T" "" "likely pathogenic" "ACMG"
"0001009419" "0" "30" "1" "94496665" "94496665" "subst" "3.25206E-5" "01695" "ABCA4_001220" "g.94496665C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG BP4_m, BP7; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94031109C>T" "" "likely benign" "ACMG"
"0001009420" "0" "90" "1" "94496652" "94496652" "del" "0" "01695" "ABCA4_001290" "g.94496652del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PS4, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94031096del" "" "pathogenic" "ACMG"
"0001009421" "0" "70" "1" "94496627" "94496627" "del" "0" "01695" "ABCA4_002333" "g.94496627del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94031071del" "" "likely pathogenic" "ACMG"
"0001009422" "0" "50" "1" "94496627" "94496627" "subst" "8.12585E-6" "01695" "ABCA4_002332" "g.94496627A>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94031071A>G" "" "VUS" "ACMG"
"0001009423" "0" "50" "1" "94496616" "94496630" "del" "0" "01695" "ABCA4_001843" "g.94496616_94496630del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM4; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94031060_94031074del" "" "VUS" "ACMG"
"0001009424" "0" "90" "1" "94496613" "94496613" "del" "0" "01695" "ABCA4_001842" "g.94496613del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94031057del" "" "pathogenic" "ACMG"
"0001009425" "0" "70" "1" "94496605" "94496605" "del" "0" "01695" "ABCA4_001396" "g.94496605del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, BP4; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94031049del" "" "likely pathogenic" "ACMG"
"0001009426" "0" "10" "1" "94496602" "94496602" "subst" "0.0234538" "01695" "ABCA4_000913" "g.94496602G>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG BS1, BP4_m, BP7" "SUMMARY record" "" "" "0" "" "" "g.94031046G>T" "" "benign" "ACMG"
"0001009427" "0" "90" "1" "94496601" "94496601" "del" "0" "01695" "ABCA4_001841" "g.94496601del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PM3, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94031045del" "" "pathogenic" "ACMG"
"0001009428" "0" "50" "1" "94496589" "94496589" "subst" "0" "01695" "ABCA4_000569" "g.94496589G>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM5; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94031033G>C" "" "VUS" "ACMG"
"0001009429" "0" "90" "1" "94496589" "94496589" "del" "0" "01695" "ABCA4_001500" "g.94496589del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94031033del" "" "pathogenic" "ACMG"
"0001009430" "0" "90" "1" "94496583" "94496583" "del" "0" "01695" "ABCA4_001840" "g.94496583del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94031027del" "" "pathogenic" "ACMG"
"0001009431" "0" "70" "1" "94496581" "94496581" "subst" "0" "01695" "ABCA4_000566" "g.94496581C>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4, PM5, PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94031025C>A" "" "likely pathogenic" "ACMG"
"0001009432" "0" "50" "1" "94496574" "94496574" "subst" "0" "01695" "ABCA4_001839" "g.94496574C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PP3_m; severity category mild/moderate" "SUMMARY record" "" "" "0" "" "" "g.94031018C>T" "" "VUS" "ACMG"
"0001009433" "0" "90" "1" "94496574" "94496577" "dup" "0" "01695" "ABCA4_001461" "g.94496574_94496577dup" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94031018_94031021dup" "" "pathogenic" "ACMG"
"0001009434" "0" "90" "1" "94496568" "94496568" "subst" "0" "01695" "ABCA4_001838" "g.94496568G>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PM3, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94031012G>A" "" "pathogenic" "ACMG"
"0001009435" "0" "50" "1" "94496509" "94496509" "subst" "0.00475243" "01695" "ABCA4_001024" "g.94496509C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "reduced penetrance reported (36-43%) Runhart 2020 (PMID:32815999); variant likely underreported due to reduced penetrance and intronic location, Runhart 2019 (PMID:31618761); ACMG PS4, BP4_m; severity category mild" "SUMMARY record" "" "" "0" "" "" "g.94030953C>T" "" "VUS" "ACMG"
"0001009436" "0" "30" "1" "94496123" "94496123" "subst" "1.62889E-5" "01695" "ABCA4_001837" "g.94496123G>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, BP4_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94030567G>A" "" "likely benign" "ACMG"
"0001009437" "0" "50" "1" "94496097" "94496097" "del" "0" "01695" "ABCA4_001020" "g.94496097del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PP3; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94030541del" "" "VUS" "ACMG"
"0001009438" "0" "50" "1" "94496083" "94496083" "subst" "0" "01695" "ABCA4_001340" "g.94496083C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1_S, PM2_sup; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94030527C>T" "" "VUS" "ACMG"
"0001009439" "0" "70" "1" "94496083" "94496083" "subst" "0" "01695" "ABCA4_001835" "g.94496083C>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1_S, PS4; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94030527C>G" "" "likely pathogenic" "ACMG"
"0001009440" "0" "70" "1" "94496083" "94496083" "subst" "0" "01695" "ABCA4_001836" "g.94496083C>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94030527C>A" "" "likely pathogenic" "ACMG"
"0001009441" "0" "70" "1" "94496082" "94496082" "subst" "0" "01695" "ABCA4_001834" "g.94496082G>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4, PM3_sup, PP3_m; severity category moderate/severe" "SUMMARY record" "" "" "0" "" "" "g.94030526G>T" "" "likely pathogenic" "ACMG"
"0001009442" "0" "90" "1" "94496078" "94496100" "del" "0" "01695" "ABCA4_001833" "g.94496078_94496100del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1_S, PS4, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94030522_94030544del" "" "pathogenic" "ACMG"
"0001009443" "0" "50" "1" "94496067" "94496067" "subst" "0" "01695" "ABCA4_001832" "g.94496067G>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM3_sup, PP3; severity category mild/moderate" "SUMMARY record" "" "" "0" "" "" "g.94030511G>A" "" "VUS" "ACMG"
"0001009444" "0" "90" "1" "94496060" "94496060" "subst" "0" "01695" "ABCA4_001831" "g.94496060G>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94030504G>A" "" "pathogenic" "ACMG"
"0001009445" "0" "90" "1" "94496042" "94496048" "del" "0" "01695" "ABCA4_001830" "g.94496042_94496048del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94030486_94030492del" "" "pathogenic" "ACMG"
"0001009446" "0" "50" "1" "94496029" "94496029" "subst" "0" "01695" "ABCA4_001829" "g.94496029T>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM3_sup, PP3; severity category uncertain" "SUMMARY record" "" "" "0" "" "" "g.94030473T>A" "" "VUS" "ACMG"
"0001009447" "0" "50" "1" "94496023" "94496023" "subst" "0" "01695" "ABCA4_001828" "g.94496023G>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM3_sup, PP3_m; severity category uncertain" "SUMMARY record" "" "" "0" "" "" "g.94030467G>C" "" "VUS" "ACMG"
"0001009448" "0" "70" "1" "94496020" "94496020" "subst" "0" "01695" "ABCA4_001289" "g.94496020C>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4, PM3_sup, PM5, PP3_m; causative variant of unknown severity" "SUMMARY record" "" "" "0" "" "" "g.94030464C>A" "" "likely pathogenic" "ACMG"
"0001009449" "0" "90" "1" "94496015" "94496015" "del" "0" "01695" "ABCA4_001827" "g.94496015del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94030459del" "" "pathogenic" "ACMG"
"0001009450" "0" "50" "1" "94496012" "94496012" "subst" "0" "01695" "ABCA4_001826" "g.94496012T>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM3_sup, PM5; severity category uncertain" "SUMMARY record" "" "" "0" "" "" "g.94030456T>C" "" "VUS" "ACMG"
"0001009451" "0" "50" "1" "94496009" "94496009" "subst" "2.03051E-5" "01695" "ABCA4_001825" "g.94496009G>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM3_sup, PM5, PP3_m; severity category uncertain" "SUMMARY record" "" "" "0" "" "" "g.94030453G>A" "" "VUS" "ACMG"
"0001009452" "0" "50" "1" "94495996" "94495996" "subst" "0" "01695" "ABCA4_001824" "g.94495996T>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PP3; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94030440T>A" "" "VUS" "ACMG"
"0001009453" "0" "50" "1" "94495993" "94495994" "delins" "0" "01695" "ABCA4_001823" "g.94495993_94495994delinsTT" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM3_sup; severity category mild/moderate" "SUMMARY record" "" "" "0" "" "" "g.94030437_94030438delinsTT" "" "VUS" "ACMG"
"0001009454" "0" "90" "1" "94495990" "94495990" "subst" "0" "01695" "ABCA4_001460" "g.94495990C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PS4, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94030434C>T" "" "pathogenic" "ACMG"
"0001009455" "0" "70" "1" "94495989" "94495989" "subst" "8.12229E-6" "01695" "ABCA4_001090" "g.94495989C>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4, PM3; severity category mild/moderate" "SUMMARY record" "" "" "0" "" "" "g.94030433C>A" "" "likely pathogenic" "ACMG"
"0001009456" "0" "50" "1" "94495983" "94495983" "subst" "0" "01695" "ABCA4_001822" "g.94495983C>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1_S, PM2_sup; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94030427C>A" "" "VUS" "ACMG"
"0001009457" "0" "50" "1" "94495980" "94495980" "subst" "0" "01695" "ABCA4_001821" "g.94495980T>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM3_sup, PP3; severity category uncertain" "SUMMARY record" "" "" "0" "" "" "g.94030424T>G" "" "VUS" "ACMG"
"0001009458" "0" "70" "1" "94495979" "94495979" "subst" "0" "01695" "ABCA4_001820" "g.94495979C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS3_M, PM2_sup, PM3, PP3; severity category uncertain" "SUMMARY record" "" "" "0" "" "" "g.94030423C>T" "" "likely pathogenic" "ACMG"
"0001009459" "0" "30" "1" "94495971" "94495971" "subst" "0.00049161" "01695" "ABCA4_001819" "g.94495971C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG BP4_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94030415C>T" "" "likely benign" "ACMG"
"0001009460" "0" "70" "1" "94495923" "94495923" "subst" "0" "01695" "ABCA4_001255" "g.94495923C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS3_M, PS4, PM3, PP3; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94030367C>T" "" "likely pathogenic" "ACMG"
"0001009461" "0" "30" "1" "94495191" "94495191" "subst" "0.000428195" "01695" "ABCA4_000910" "g.94495191A>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG BP4_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94029635A>G" "" "likely benign" "ACMG"
"0001009462" "0" "70" "1" "94495188" "94495188" "subst" "0" "01695" "ABCA4_001818" "g.94495188C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94029632C>T" "" "likely pathogenic" "ACMG"
"0001009463" "0" "90" "1" "94495186" "94495186" "subst" "0" "01695" "ABCA4_001817" "g.94495186C>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94029630C>A" "" "pathogenic" "ACMG"
"0001009464" "0" "90" "1" "94495181" "94495181" "subst" "0" "01695" "ABCA4_001816" "g.94495181G>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PM3, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94029625G>T" "" "pathogenic" "ACMG"
"0001009465" "0" "90" "1" "94495177" "94495177" "del" "0" "01695" "ABCA4_001038" "g.94495177del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94029621del" "" "pathogenic" "ACMG"
"0001009466" "0" "70" "1" "94495157" "94495157" "subst" "4.06752E-6" "01695" "ABCA4_001815" "g.94495157C>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4, PM3_sup, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94029601C>G" "" "likely pathogenic" "ACMG"
"0001009467" "0" "90" "1" "94495153" "94495153" "del" "0" "01695" "ABCA4_001376" "g.94495153del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PS4, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94029597del" "" "pathogenic" "ACMG"
"0001009468" "0" "50" "1" "94495138" "94495138" "subst" "2.43952E-5" "01695" "ABCA4_000909" "g.94495138G>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94029582G>C" "" "VUS" "ACMG"
"0001009469" "0" "30" "1" "94495133" "94495133" "subst" "0" "01695" "ABCA4_001814" "g.94495133G>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, BP4_m, BP7; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94029577G>A" "" "likely benign" "ACMG"
"0001009470" "0" "50" "1" "94495114" "94495114" "subst" "0" "01695" "ABCA4_001105" "g.94495114T>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94029558T>C" "" "VUS" "ACMG"
"0001009471" "0" "90" "1" "94495111" "94495111" "subst" "0" "01695" "ABCA4_001248" "g.94495111G>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PM3, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94029555G>A" "" "pathogenic" "ACMG"
"0001009472" "0" "90" "1" "94495104" "94495104" "subst" "0" "01695" "ABCA4_001216" "g.94495104C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PS4, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94029548C>T" "" "pathogenic" "ACMG"
"0001009473" "0" "90" "1" "94495103" "94495103" "subst" "0" "01695" "ABCA4_001813" "g.94495103C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PS4, PM3_S, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94029547C>T" "" "pathogenic" "ACMG"
"0001009474" "0" "50" "1" "94495094" "94495094" "subst" "0" "01695" "ABCA4_001812" "g.94495094G>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM3_sup, PP3; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94029538G>T" "" "VUS" "ACMG"
"0001009475" "0" "50" "1" "94495090" "94495090" "subst" "0" "01695" "ABCA4_000543" "g.94495090G>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4, PP3; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94029534G>A" "" "VUS" "ACMG"
"0001009476" "0" "50" "1" "94495086" "94495086" "subst" "0" "01695" "ABCA4_001811" "g.94495086G>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PP3; severity category uncertain" "SUMMARY record" "" "" "0" "" "" "g.94029530G>A" "" "VUS" "ACMG"
"0001009477" "0" "70" "1" "94495082" "94495082" "del" "0" "01695" "ABCA4_001423" "g.94495082del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, BP4_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94029526del" "" "likely pathogenic" "ACMG"
"0001009478" "0" "30" "1" "94495074" "94495074" "subst" "2.53301E-5" "01695" "ABCA4_001810" "g.94495074C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG BP4; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94029518C>T" "" "likely benign" "ACMG"
"0001009479" "0" "50" "1" "94495072" "94495072" "subst" "0" "01695" "ABCA4_001422" "g.94495072A>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM3_sup, PP3_m; severity category uncertain" "SUMMARY record" "" "" "0" "" "" "g.94029516A>G" "" "VUS" "ACMG"
"0001009480" "0" "50" "1" "94495060" "94495060" "subst" "0" "01695" "ABCA4_001809" "g.94495060C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, BP4; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94029504C>T" "" "VUS" "ACMG"
"0001009481" "0" "50" "1" "94495044" "94495044" "subst" "0" "01695" "ABCA4_002331" "g.94495044A>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94029488A>G" "" "VUS" "ACMG"
"0001009482" "0" "30" "1" "94495040" "94495040" "subst" "0" "01695" "ABCA4_001808" "g.94495040T>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, BP4_m, BP7; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94029484T>C" "" "likely benign" "ACMG"
"0001009483" "0" "90" "1" "94495039" "94495039" "subst" "0" "01695" "ABCA4_001807" "g.94495039C>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94029483C>A" "" "pathogenic" "ACMG"
"0001009484" "0" "30" "1" "94495037" "94495037" "subst" "0.000830658" "01695" "ABCA4_000908" "g.94495037C>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG BP4; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94029481C>G" "" "likely benign" "ACMG"
"0001009485" "0" "50" "1" "94495036" "94495036" "subst" "0" "01695" "ABCA4_001499" "g.94495036A>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PP3_m; causative variant of unknown severity" "SUMMARY record" "" "" "0" "" "" "g.94029480A>C" "" "VUS" "ACMG"
"0001009486" "0" "50" "1" "94495035" "94495035" "subst" "0" "01695" "ABCA4_001806" "g.94495035C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM3_sup, PP3_m; severity category uncertain" "SUMMARY record" "" "" "0" "" "" "g.94029479C>T" "" "VUS" "ACMG"
"0001009487" "0" "50" "1" "94495034" "94495034" "subst" "1.58698E-5" "01695" "ABCA4_000964" "g.94495034G>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4, PM3_sup, BP4_m, BP7; severity category mild/moderate" "SUMMARY record" "" "" "0" "" "" "g.94029478G>A" "" "VUS" "ACMG"
"0001009488" "0" "70" "1" "94495032" "94495032" "subst" "0" "01695" "ABCA4_001805" "g.94495032G>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4, PM3, PP3_m; severity category uncertain" "SUMMARY record" "" "" "0" "" "" "g.94029476G>A" "" "likely pathogenic" "ACMG"
"0001009489" "0" "50" "1" "94495024" "94495024" "subst" "0" "01695" "ABCA4_001804" "g.94495024C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94029468C>T" "" "VUS" "ACMG"
"0001009490" "0" "50" "1" "94495024" "94495024" "subst" "0" "01695" "ABCA4_002262" "g.94495024C>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PP3; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94029468C>G" "" "VUS" "ACMG"
"0001009491" "0" "90" "1" "94495009" "94495034" "del" "0" "01695" "ABCA4_001803" "g.94495009_94495034del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94029453_94029478del" "" "pathogenic" "ACMG"
"0001009492" "0" "70" "1" "94495008" "94495008" "subst" "0" "01695" "ABCA4_001802" "g.94495008G>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM3, PM5, PP3_m; causative variant of unknown severity" "SUMMARY record" "" "" "0" "" "" "g.94029452G>T" "" "likely pathogenic" "ACMG"
"0001009493" "0" "90" "1" "94495006" "94495016" "del" "0" "01695" "ABCA4_001801" "g.94495006_94495016del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PM3_sup, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94029450_94029460del" "" "pathogenic" "ACMG"
"0001009494" "0" "50" "1" "94495005" "94495005" "subst" "3.95137E-5" "01695" "ABCA4_000907" "g.94495005G>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PP3; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94029449G>T" "" "VUS" "ACMG"
"0001009495" "0" "50" "1" "94495005" "94495005" "subst" "0" "01695" "ABCA4_002349" "g.94495005G>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94029449G>A" "" "VUS" "ACMG"
"0001009496" "0" "50" "1" "94495003" "94495003" "subst" "2.67971E-5" "01695" "ABCA4_001800" "g.94495003G>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94029447G>C" "" "VUS" "ACMG"
"0001009497" "0" "70" "1" "94495001" "94495001" "subst" "0" "01695" "ABCA4_001064" "g.94495001C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS3_M, PS4, PM3, PP3; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94029445C>T" "" "likely pathogenic" "ACMG"
"0001009498" "0" "70" "1" "94495000" "94495000" "subst" "0" "01695" "ABCA4_002481" "g.94495000C>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94029444C>G" "" "likely pathogenic" "ACMG"
"0001009499" "0" "30" "1" "94494142" "94494142" "subst" "0" "01695" "ABCA4_001091" "g.94494142G>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG BS3_sup, BP4_m" "SUMMARY record" "" "" "0" "" "" "g.94028586G>A" "" "likely benign" "ACMG"
"0001009500" "0" "50" "1" "94493901" "94493901" "subst" "0" "01695" "ABCA4_001288" "g.94493901T>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS3_sup, PM2_sup, PP3; severity category moderate" "SUMMARY record" "" "" "0" "" "" "g.94028345T>C" "" "VUS" "ACMG"
"0001009501" "0" "70" "1" "94493895" "94493895" "subst" "0" "01695" "ABCA4_001084" "g.94493895G>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS3_M, PS4, PP3; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94028339G>A" "" "likely pathogenic" "ACMG"
"0001009502" "0" "30" "1" "94493680" "94493680" "subst" "0" "01695" "ABCA4_001459" "g.94493680T>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG BS3_sup, BP4_m" "SUMMARY record" "" "" "0" "" "" "g.94028124T>C" "" "likely benign" "ACMG"
"0001009503" "0" "30" "1" "94493272" "94493272" "subst" "0" "01695" "ABCA4_000904" "g.94493272C>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG BS3_sup, PM2_sup, BP4_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94027716C>A" "" "likely benign" "ACMG"
"0001009504" "0" "30" "1" "94493231" "94493231" "subst" "0" "01695" "ABCA4_000903" "g.94493231G>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG BS1, BP4_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94027675G>T" "" "likely benign" "ACMG"
"0001009505" "0" "30" "1" "94493145" "94493145" "dup" "0" "01695" "ABCA4_001799" "g.94493145dup" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, BP4_m; severity category uncertain" "SUMMARY record" "" "" "0" "" "" "g.94027589dup" "" "likely benign" "ACMG"
"0001009506" "0" "90" "1" "94493000" "94493000" "subst" "0" "01695" "ABCA4_000015" "g.94493000C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4, PM3_V, BP4_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94027444C>T" "" "pathogenic" "ACMG"
"0001009507" "0" "90" "1" "94492973" "94492973" "subst" "0" "01695" "ABCA4_000030" "g.94492973G>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4, PM3_V, BP4_m; severity category moderate" "SUMMARY record" "" "" "0" "" "" "g.94027417G>A" "" "pathogenic" "ACMG"
"0001009508" "0" "90" "1" "94492937" "94492937" "subst" "0" "01695" "ABCA4_000529" "g.94492937G>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS3_sup, PS4, PM3_V, PP3; severity category mild" "SUMMARY record" "" "" "0" "" "" "g.94027381G>A" "" "pathogenic" "ACMG"
"0001009509" "0" "50" "1" "94492936" "94492936" "subst" "0" "01695" "ABCA4_001083" "g.94492936G>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM3_sup, PP3; severity category mild" "SUMMARY record" "" "" "0" "" "" "g.94027380G>C" "" "VUS" "ACMG"
"0001009510" "0" "50" "1" "94492935" "94492935" "subst" "0" "01695" "ABCA4_001798" "g.94492935G>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS3_sup, PM2_sup, PM3_sup, PP3; severity category uncertain" "SUMMARY record" "" "" "0" "" "" "g.94027379G>C" "" "VUS" "ACMG"
"0001009511" "0" "30" "1" "94492916" "94492916" "subst" "0" "01695" "ABCA4_001797" "g.94492916C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG BP4_m" "SUMMARY record" "" "" "0" "" "" "g.94027360C>T" "" "likely benign" "ACMG"
"0001009512" "0" "30" "1" "94492773" "94492773" "subst" "0" "01695" "ABCA4_001796" "g.94492773T>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG BS1, BP4_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94027217T>C" "" "likely benign" "ACMG"
"0001009513" "0" "30" "1" "94492681" "94492681" "subst" "0" "01695" "ABCA4_001795" "g.94492681G>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG BP4_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94027125G>A" "" "likely benign" "ACMG"
"0001009514" "0" "30" "1" "94492640" "94492640" "subst" "0" "01695" "ABCA4_001794" "g.94492640G>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, BP4_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94027084G>T" "" "likely benign" "ACMG"
"0001009515" "0" "50" "1" "94490612" "94490612" "subst" "0" "01695" "ABCA4_002480" "g.94490612A>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS3_M, PM2_sup, PP3; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94025056A>T" "" "VUS" "ACMG"
"0001009516" "0" "30" "1" "94490612" "94490612" "subst" "4.06095E-6" "01695" "ABCA4_001793" "g.94490612A>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, BP4_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94025056A>G" "" "likely benign" "ACMG"
"0001009517" "0" "90" "1" "94490605" "94490605" "subst" "0" "01695" "ABCA4_001458" "g.94490605C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PS4, PM3_sup; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94025049C>T" "" "pathogenic" "ACMG"
"0001009518" "0" "50" "1" "94490595" "94490595" "subst" "4.06091E-6" "01695" "ABCA4_002348" "g.94490595G>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94025039G>T" "" "VUS" "ACMG"
"0001009519" "0" "50" "1" "94490591" "94490591" "subst" "0" "01695" "ABCA4_001249" "g.94490591C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup; severity category uncertain" "SUMMARY record" "" "" "0" "" "" "g.94025035C>T" "" "VUS" "ACMG"
"0001009520" "0" "50" "1" "94490588" "94490588" "subst" "0" "01695" "ABCA4_002347" "g.94490588G>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94025032G>C" "" "VUS" "ACMG"
"0001009521" "0" "30" "1" "94490588" "94490588" "subst" "6.90361E-5" "01695" "ABCA4_001498" "g.94490588G>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG BP2, BP4_m; severity category moderate/severe" "SUMMARY record" "" "" "0" "" "" "g.94025032G>A" "" "likely benign" "ACMG"
"0001009522" "0" "30" "1" "94490587" "94490587" "subst" "2.03051E-5" "01695" "ABCA4_000901" "g.94490587C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, BP4_m, BP7; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94025031C>T" "" "likely benign" "ACMG"
"0001009523" "0" "50" "1" "94490586" "94490586" "subst" "0" "01695" "ABCA4_001792" "g.94490586C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PP3; severity category uncertain" "SUMMARY record" "" "" "0" "" "" "g.94025030C>T" "" "VUS" "ACMG"
"0001009524" "0" "90" "1" "94490585" "94490585" "del" "0" "01695" "ABCA4_001287" "g.94490585del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM6_sup, PM2_sup, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94025029del" "" "pathogenic" "ACMG"
"0001009525" "0" "90" "1" "94490577" "94490577" "subst" "0" "01695" "ABCA4_001791" "g.94490577G>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94025021G>A" "" "pathogenic" "ACMG"
"0001009526" "0" "50" "1" "94490576" "94490576" "subst" "0" "01695" "ABCA4_001790" "g.94490576T>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94025020T>C" "" "VUS" "ACMG"
"0001009527" "0" "70" "1" "94490573" "94490573" "subst" "0" "01695" "ABCA4_001789" "g.94490573T>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4, PP3_m; severity category moderate/severe" "SUMMARY record" "" "" "0" "" "" "g.94025017T>C" "" "likely pathogenic" "ACMG"
"0001009528" "0" "50" "1" "94490571" "94490571" "subst" "0" "01695" "ABCA4_001519" "g.94490571G>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94025015G>C" "" "VUS" "ACMG"
"0001009529" "0" "50" "1" "94490568" "94490568" "subst" "0" "01695" "ABCA4_001788" "g.94490568T>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM3_sup, PM5, PP3; severity category mild/moderate" "SUMMARY record" "" "" "0" "" "" "g.94025012T>C" "" "VUS" "ACMG"
"0001009530" "0" "30" "1" "94490566" "94490566" "subst" "0.000142132" "01695" "ABCA4_001787" "g.94490566C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG BP4_m, BP7; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94025010C>T" "" "likely benign" "ACMG"
"0001009531" "0" "50" "1" "94490556" "94490556" "subst" "0" "01695" "ABCA4_001401" "g.94490556T>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM3_sup, PP3_m; severity category mild/moderate" "SUMMARY record" "" "" "0" "" "" "g.94025000T>A" "" "VUS" "ACMG"
"0001009532" "0" "50" "1" "94490548" "94490548" "subst" "0" "01695" "ABCA4_001786" "g.94490548G>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM5, PP3; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94024992G>C" "" "VUS" "ACMG"
"0001009533" "0" "50" "1" "94490546" "94490546" "subst" "0" "01695" "ABCA4_001785" "g.94490546A>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM3_sup, PP3_m; severity category mild/moderate" "SUMMARY record" "" "" "0" "" "" "g.94024990A>G" "" "VUS" "ACMG"
"0001009534" "0" "90" "1" "94490539" "94490539" "del" "0" "01695" "ABCA4_002306" "g.94490539del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94024983del" "" "pathogenic" "ACMG"
"0001009535" "0" "30" "1" "94490533" "94490533" "subst" "0.00112903" "01695" "ABCA4_000900" "g.94490533C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG BP4_m, BP7; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94024977C>T" "" "likely benign" "ACMG"
"0001009536" "0" "50" "1" "94490519" "94490519" "subst" "1.2183E-5" "01695" "ABCA4_001783" "g.94490519A>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PP3_m; severity category uncertain" "SUMMARY record" "" "" "0" "" "" "g.94024963A>G" "" "VUS" "ACMG"
"0001009537" "0" "90" "1" "94490519" "94490532" "del" "0" "01695" "ABCA4_001784" "g.94490519_94490532del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PM3_sup, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94024963_94024976del" "" "pathogenic" "ACMG"
"0001009538" "0" "50" "1" "94490511" "94490511" "subst" "0" "01695" "ABCA4_001058" "g.94490511T>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94024955T>C" "" "VUS" "ACMG"
"0001009539" "0" "90" "1" "94490510" "94490510" "del" "0" "01695" "ABCA4_001457" "g.94490510del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1_S, PS4, PM3, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94024954del" "" "pathogenic" "ACMG"
"0001009540" "0" "70" "1" "94490509" "94490509" "subst" "1.21843E-5" "01695" "ABCA4_001782" "g.94490509C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94024953C>T" "" "likely pathogenic" "ACMG"
"0001009541" "0" "70" "1" "94490509" "94490509" "subst" "0" "01695" "ABCA4_001781" "g.94490509C>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94024953C>A" "" "likely pathogenic" "ACMG"
"0001009542" "0" "90" "1" "94490508" "94490508" "subst" "0" "01695" "ABCA4_002479" "g.94490508A>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PM3_sup; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94024952A>G" "" "pathogenic" "ACMG"
"0001009543" "0" "50" "1" "94489769" "94489769" "subst" "0" "01695" "ABCA4_002478" "g.94489769T>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS3_M, PM2_sup, PP3; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94024213T>C" "" "VUS" "ACMG"
"0001009544" "0" "50" "1" "94488979" "94488979" "subst" "0" "01695" "ABCA4_001780" "g.94488979A>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS3_M, PM2_sup, PP3; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94023423A>G" "" "VUS" "ACMG"
"0001009545" "0" "50" "1" "94488974" "94488974" "subst" "0" "01695" "ABCA4_001778" "g.94488974G>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PP3; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94023418G>A" "" "VUS" "ACMG"
"0001009546" "0" "90" "1" "94488974" "94488974" "del" "0" "01695" "ABCA4_001779" "g.94488974del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PS4, PM3_sup, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94023418del" "" "pathogenic" "ACMG"
"0001009547" "0" "90" "1" "94488972" "94488972" "subst" "0" "01695" "ABCA4_001777" "g.94488972A>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PS4, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94023416A>C" "" "pathogenic" "ACMG"
"0001009548" "0" "90" "1" "94488971" "94488971" "del" "0" "01695" "ABCA4_001776" "g.94488971del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94023415del" "" "pathogenic" "ACMG"
"0001009549" "0" "50" "1" "94488966" "94488966" "subst" "4.91071E-5" "01695" "ABCA4_001775" "g.94488966C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94023410C>T" "" "VUS" "ACMG"
"0001009550" "0" "90" "1" "94488946" "94488947" "del" "0" "01695" "ABCA4_001774" "g.94488946_94488947del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PS4, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94023390_94023391del" "" "pathogenic" "ACMG"
"0001009551" "0" "70" "1" "94488942" "94488942" "subst" "0" "01695" "ABCA4_001254" "g.94488942C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS3_M, PS4, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94023386C>T" "" "likely pathogenic" "ACMG"
"0001009552" "0" "50" "1" "94488941" "94488941" "subst" "0" "01695" "ABCA4_001773" "g.94488941C>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1_S, PM2_sup; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94023385C>G" "" "VUS" "ACMG"
"0001009553" "0" "90" "1" "94488941" "94488941" "subst" "0" "01695" "ABCA4_001772" "g.94488941C>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1_S, PS4, PM3_S; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94023385C>A" "" "pathogenic" "ACMG"
"0001009554" "0" "30" "1" "94488897" "94488897" "subst" "0.000158904" "01695" "ABCA4_001771" "g.94488897A>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG BP4_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94023341A>G" "" "likely benign" "ACMG"
"0001009555" "0" "50" "1" "94487503" "94487503" "subst" "0" "01695" "ABCA4_001769" "g.94487503C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM3, PP3_m; severity category mild/moderate" "SUMMARY record" "" "" "0" "" "" "g.94021947C>T" "" "VUS" "ACMG"
"0001009556" "0" "70" "1" "94487503" "94496279" "delins" "0" "01695" "ABCA4_001770" "g.94487503_94496279delinsAAAAGC" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94021947_94030723delinsAAAAGC" "" "likely pathogenic" "ACMG"
"0001009557" "0" "70" "1" "94487503" "94496279" "delins" "0" "01695" "ABCA4_002477" "g.94487503_94496279delinsAAAAAGC" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94021947_94030723delinsAAAAAGC" "" "likely pathogenic" "ACMG"
"0001009558" "0" "50" "1" "94487499" "94487499" "subst" "0" "01695" "ABCA4_001456" "g.94487499C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM3, PP3; severity category uncertain" "SUMMARY record" "" "" "0" "" "" "g.94021943C>T" "" "VUS" "ACMG"
"0001009559" "0" "50" "1" "94487490" "94487490" "subst" "0" "01695" "ABCA4_002894" "g.94487490A>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PP3; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94021934A>T" "" "VUS" "ACMG"
"0001009560" "0" "50" "1" "94487488" "94487488" "subst" "0" "01695" "ABCA4_002476" "g.94487488C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM3_sup, PP3_m; severity category mild/moderate" "SUMMARY record" "" "" "0" "" "" "g.94021932C>T" "" "VUS" "ACMG"
"0001009561" "0" "90" "1" "94487486" "94487486" "del" "0" "01695" "ABCA4_001767" "g.94487486del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PS4, PM3_sup, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94021930del" "" "pathogenic" "ACMG"
"0001009562" "0" "50" "1" "94487481" "94487481" "subst" "0" "01695" "ABCA4_001766" "g.94487481T>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94021925T>C" "" "VUS" "ACMG"
"0001009563" "0" "50" "1" "94487479" "94487479" "subst" "4.06151E-6" "01695" "ABCA4_001765" "g.94487479G>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4; severity category mild/moderate" "SUMMARY record" "" "" "0" "" "" "g.94021923G>A" "" "VUS" "ACMG"
"0001009564" "0" "50" "1" "94487475" "94487475" "subst" "4.06144E-6" "01695" "ABCA4_001103" "g.94487475G>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup; severity category uncertain" "SUMMARY record" "" "" "0" "" "" "g.94021919G>A" "" "VUS" "ACMG"
"0001009565" "0" "70" "1" "94487469" "94487469" "del" "0" "01695" "ABCA4_001081" "g.94487469del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94021913del" "" "likely pathogenic" "ACMG"
"0001009566" "0" "50" "1" "94487466" "94487466" "subst" "4.06134E-6" "01695" "ABCA4_001764" "g.94487466G>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94021910G>A" "" "VUS" "ACMG"
"0001009567" "0" "70" "1" "94487464" "94487464" "del" "0" "01695" "ABCA4_001763" "g.94487464del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, BP4_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94021908del" "" "likely pathogenic" "ACMG"
"0001009568" "0" "50" "1" "94487463" "94487463" "subst" "8.12189E-6" "01695" "ABCA4_001762" "g.94487463A>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM3_sup; severity category uncertain" "SUMMARY record" "" "" "0" "" "" "g.94021907A>T" "" "VUS" "ACMG"
"0001009569" "0" "50" "1" "94487448" "94487448" "subst" "0" "01695" "ABCA4_001400" "g.94487448A>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup; severity category mild/moderate" "SUMMARY record" "" "" "0" "" "" "g.94021892A>C" "" "VUS" "ACMG"
"0001009570" "0" "50" "1" "94487443" "94487443" "subst" "1.2183E-5" "01695" "ABCA4_002346" "g.94487443C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94021887C>T" "" "VUS" "ACMG"
"0001009571" "0" "90" "1" "94487436" "94487441" "delins" "0" "01695" "ABCA4_001761" "g.94487436_94487441delinsGG" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PS4, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94021880_94021885delinsGG" "" "pathogenic" "ACMG"
"0001009572" "0" "90" "1" "94487437" "94487440" "del" "0" "01695" "ABCA4_002475" "g.94487437_94487440del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PS4, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94021881_94021884del" "" "pathogenic" "ACMG"
"0001009573" "0" "70" "1" "94487427" "94487427" "subst" "8.12176E-6" "01695" "ABCA4_001339" "g.94487427A>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4, PM3, PP3_m; causative variant of unknown severity" "SUMMARY record" "" "" "0" "" "" "g.94021871A>G" "" "likely pathogenic" "ACMG"
"0001009574" "0" "70" "1" "94487413" "94487413" "subst" "0" "01695" "ABCA4_001338" "g.94487413T>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4, PM3, PP3; severity category mild/moderate" "SUMMARY record" "" "" "0" "" "" "g.94021857T>A" "" "likely pathogenic" "ACMG"
"0001009575" "0" "50" "1" "94487410" "94487410" "subst" "2.84257E-5" "01695" "ABCA4_001357" "g.94487410C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PP3; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94021854C>T" "" "VUS" "ACMG"
"0001009576" "0" "50" "1" "94487404" "94487404" "del" "0" "01695" "ABCA4_001760" "g.94487404del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94021848del" "" "VUS" "ACMG"
"0001009577" "0" "30" "1" "94487398" "94487398" "subst" "0" "01695" "ABCA4_001102" "g.94487398A>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, BP4_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94021842A>C" "" "likely benign" "ACMG"
"0001009578" "0" "30" "1" "94487354" "94487354" "subst" "0.584631" "01695" "ABCA4_000897" "g.94487354G>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG BS1, BP4_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94021798G>A" "" "likely benign" "ACMG"
"0001009579" "0" "30" "1" "94487300" "94487300" "subst" "0.00130332" "01695" "ABCA4_001759" "g.94487300C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG BS1, BP4_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94021744C>T" "" "likely benign" "ACMG"
"0001009580" "0" "50" "1" "94487297" "94487297" "subst" "1.22574E-5" "01695" "ABCA4_001758" "g.94487297A>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG BS3_sup, PM2_sup, PM3, BP4_m; causative variant of unknown severity" "SUMMARY record" "" "" "0" "" "" "g.94021741A>G" "" "VUS" "ACMG"
"0001009581" "0" "70" "1" "94487279" "94487279" "subst" "0" "01695" "ABCA4_001757" "g.94487279C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS3_M, PS4, BP2, PP3; severity category mild/moderate" "SUMMARY record" "" "" "0" "" "" "g.94021723C>T" "" "likely pathogenic" "ACMG"
"0001009582" "0" "50" "1" "94487272" "94487272" "subst" "0" "01695" "ABCA4_001756" "g.94487272T>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1_S, PM2_sup; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94021716T>C" "" "VUS" "ACMG"
"0001009583" "0" "50" "1" "94487269" "94487269" "subst" "0" "01695" "ABCA4_001755" "g.94487269C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4, PM3_sup; severity category mild/moderate" "SUMMARY record" "" "" "0" "" "" "g.94021713C>T" "" "VUS" "ACMG"
"0001009584" "0" "90" "1" "94487258" "94487258" "dup" "0" "01695" "ABCA4_001264" "g.94487258dup" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94021702dup" "" "pathogenic" "ACMG"
"0001009585" "0" "90" "1" "94487242" "94487242" "del" "0" "01695" "ABCA4_001170" "g.94487242del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PP3; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94021686del" "" "pathogenic" "ACMG"
"0001009586" "0" "90" "1" "94487235" "94487235" "del" "0" "01695" "ABCA4_002474" "g.94487235del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PP3; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94021679del" "" "pathogenic" "ACMG"
"0001009587" "0" "90" "1" "94487215" "94487215" "del" "0" "01695" "ABCA4_002473" "g.94487215del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94021659del" "" "pathogenic" "ACMG"
"0001009588" "0" "90" "1" "94487212" "94487212" "del" "0" "01695" "ABCA4_001497" "g.94487212del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94021656del" "" "pathogenic" "ACMG"
"0001009589" "0" "50" "1" "94487207" "94487207" "subst" "4.10186E-6" "01695" "ABCA4_000489" "g.94487207C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, BP2; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94021651C>T" "" "VUS" "ACMG"
"0001009590" "0" "90" "1" "94487206" "94487206" "del" "0" "01695" "ABCA4_001455" "g.94487206del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94021650del" "" "pathogenic" "ACMG"
"0001009591" "0" "50" "1" "94487202" "94487202" "subst" "0" "01695" "ABCA4_001754" "g.94487202G>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4, PM3_sup; causative variant of unknown severity" "SUMMARY record" "" "" "0" "" "" "g.94021646G>C" "" "VUS" "ACMG"
"0001009592" "0" "90" "1" "94487200" "94487200" "del" "0" "01695" "ABCA4_000873" "g.94487200del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PS4, PM3_sup, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94021644del" "" "pathogenic" "ACMG"
"0001009593" "0" "90" "1" "94487197" "94487198" "ins" "0" "01695" "ABCA4_001753" "g.94487197_94487198insA" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94021641_94021642insA" "" "pathogenic" "ACMG"
"0001009594" "0" "70" "1" "94487195" "94487195" "subst" "0" "01695" "ABCA4_001752" "g.94487195C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1_S, PS4; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94021639C>T" "" "likely pathogenic" "ACMG"
"0001009595" "0" "70" "1" "94487195" "94487195" "subst" "0" "01695" "ABCA4_001454" "g.94487195C>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1_S, PS4, PM3_sup; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94021639C>A" "" "likely pathogenic" "ACMG"
"0001009596" "0" "70" "1" "94487194" "94487194" "subst" "0" "01695" "ABCA4_001751" "g.94487194A>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1_S, PM2_sup, PM3_sup; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94021638A>T" "" "likely pathogenic" "ACMG"
"0001009597" "0" "70" "1" "94487193" "94487193" "subst" "0" "01695" "ABCA4_002472" "g.94487193T>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS3_M, PS4, PM3, PP3; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94021637T>C" "" "likely pathogenic" "ACMG"
"0001009598" "0" "70" "1" "94486973" "94486973" "subst" "0" "01695" "ABCA4_001750" "g.94486973G>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS3_M, PS4, PP3; severity category uncertain" "SUMMARY record" "" "" "0" "" "" "g.94021417G>C" "" "likely pathogenic" "ACMG"
"0001009599" "0" "90" "1" "94486966" "94486966" "del" "0" "01695" "ABCA4_001749" "g.94486966del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PS4, PM3_S, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94021410del" "" "pathogenic" "ACMG"
"0001009600" "0" "90" "1" "94486966" "94486966" "subst" "2.44021E-5" "01695" "ABCA4_001748" "g.94486966C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PS4, PM3; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94021410C>T" "" "pathogenic" "ACMG"
"0001009601" "0" "70" "1" "94486966" "94486966" "subst" "0" "01695" "ABCA4_002893" "g.94486966C>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94021410C>G" "" "likely pathogenic" "ACMG"
"0001009602" "0" "70" "1" "94486965" "94486965" "subst" "0" "01695" "ABCA4_001063" "g.94486965C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS3_M, PM2_sup, PM3, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94021409C>T" "" "likely pathogenic" "ACMG"
"0001009603" "0" "50" "1" "94486962" "94486962" "subst" "0" "01695" "ABCA4_001548" "g.94486962A>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM5, PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94021406A>T" "" "VUS" "ACMG"
"0001009604" "0" "90" "1" "94486961" "94486961" "subst" "0" "01695" "ABCA4_001286" "g.94486961C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PS4, PM3_sup, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94021405C>T" "" "pathogenic" "ACMG"
"0001009605" "0" "70" "1" "94486960" "94486960" "subst" "1.62641E-5" "01695" "ABCA4_001169" "g.94486960C>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS1, PM2_sup, PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94021404C>G" "" "likely pathogenic" "ACMG"
"0001009606" "0" "70" "1" "94486960" "94486960" "subst" "0" "01695" "ABCA4_001421" "g.94486960C>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4, PP3_m; severity category uncertain" "SUMMARY record" "" "" "0" "" "" "g.94021404C>A" "" "likely pathogenic" "ACMG"
"0001009607" "0" "70" "1" "94486959" "94486959" "subst" "0" "01695" "ABCA4_001285" "g.94486959A>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4, PM3_sup, PP3_m; causative variant of unknown severity" "SUMMARY record" "" "" "0" "" "" "g.94021403A>G" "" "likely pathogenic" "ACMG"
"0001009608" "0" "50" "1" "94486953" "94486953" "subst" "4.06468E-6" "01695" "ABCA4_002293" "g.94486953T>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94021397T>A" "" "VUS" "ACMG"
"0001009609" "0" "50" "1" "94486947" "94486947" "subst" "0" "01695" "ABCA4_001547" "g.94486947C>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94021391C>G" "" "VUS" "ACMG"
"0001009610" "0" "50" "1" "94486946" "94486946" "subst" "0" "01695" "ABCA4_001747" "g.94486946C>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM3_sup, PP3_m; severity category uncertain" "SUMMARY record" "" "" "0" "" "" "g.94021390C>A" "" "VUS" "ACMG"
"0001009611" "0" "30" "1" "94486945" "94486945" "subst" "0" "01695" "ABCA4_001536" "g.94486945G>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, BP4_m, BP7; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94021389G>C" "" "likely benign" "ACMG"
"0001009612" "0" "50" "1" "94486941" "94486941" "subst" "0" "01695" "ABCA4_001746" "g.94486941G>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM5, PP3_m; severity category uncertain" "SUMMARY record" "" "" "0" "" "" "g.94021385G>C" "" "VUS" "ACMG"
"0001009613" "0" "70" "1" "94486941" "94486941" "subst" "0" "01695" "ABCA4_001420" "g.94486941G>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4, PM3_sup, PM5, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94021385G>A" "" "likely pathogenic" "ACMG"
"0001009614" "0" "70" "1" "94486939" "94486939" "subst" "0" "01695" "ABCA4_001211" "g.94486939A>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4, PM3_sup, PM5, PP3_m; causative variant of unknown severity" "SUMMARY record" "" "" "0" "" "" "g.94021383A>T" "" "likely pathogenic" "ACMG"
"0001009615" "0" "90" "1" "94486934" "94486934" "del" "1.62529E-5" "01695" "ABCA4_001745" "g.94486934del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94021378del" "" "pathogenic" "ACMG"
"0001009616" "0" "50" "1" "94486934" "94486934" "subst" "0" "01695" "ABCA4_001101" "g.94486934A>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PP3; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94021378A>G" "" "VUS" "ACMG"
"0001009617" "0" "70" "1" "94486925" "94486925" "subst" "0" "01695" "ABCA4_001744" "g.94486925A>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4, PM3_sup, PP3_m; severity category uncertain" "SUMMARY record" "" "" "0" "" "" "g.94021369A>G" "" "likely pathogenic" "ACMG"
"0001009618" "0" "90" "1" "94486920" "94486920" "dup" "0" "01695" "ABCA4_001019" "g.94486920dup" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94021364dup" "" "pathogenic" "ACMG"
"0001009619" "0" "50" "1" "94486915" "94486938" "dup" "0" "01695" "ABCA4_001743" "g.94486915_94486938dup" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM4; severity category uncertain" "SUMMARY record" "" "" "0" "" "" "g.94021359_94021382dup" "" "VUS" "ACMG"
"0001009620" "0" "90" "1" "94486908" "94486917" "del" "0" "01695" "ABCA4_001742" "g.94486908_94486917del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94021352_94021361del" "" "pathogenic" "ACMG"
"0001009621" "0" "90" "1" "94486898" "94486898" "subst" "0" "01695" "ABCA4_002345" "g.94486898A>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94021342A>C" "" "pathogenic" "ACMG"
"0001009622" "0" "90" "1" "94486890" "94486893" "del" "0" "01695" "ABCA4_001741" "g.94486890_94486893del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94021334_94021337del" "" "pathogenic" "ACMG"
"0001009623" "0" "50" "1" "94486889" "94486889" "subst" "0.000995166" "01695" "ABCA4_000895" "g.94486889C>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM5; severity category benign" "SUMMARY record" "" "" "0" "" "" "g.94021333C>A" "" "VUS" "ACMG"
"0001009624" "0" "90" "1" "94486888" "94486888" "del" "0" "01695" "ABCA4_001068" "g.94486888del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94021332del" "" "pathogenic" "ACMG"
"0001009625" "0" "90" "1" "94486866" "94486866" "subst" "0" "01695" "ABCA4_001364" "g.94486866C>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PS4, PM3, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94021310C>A" "" "pathogenic" "ACMG"
"0001009626" "0" "50" "1" "94486856" "94486856" "subst" "0" "01695" "ABCA4_002305" "g.94486856C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94021300C>T" "" "VUS" "ACMG"
"0001009627" "0" "50" "1" "94486850" "94486850" "subst" "0" "01695" "ABCA4_002471" "g.94486850G>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PP3_m; severity category uncertain" "SUMMARY record" "" "" "0" "" "" "g.94021294G>A" "" "VUS" "ACMG"
"0001009628" "0" "50" "1" "94486842" "94486842" "subst" "1.21833E-5" "01695" "ABCA4_001740" "g.94486842T>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PP3; severity category uncertain" "SUMMARY record" "" "" "0" "" "" "g.94021286T>G" "" "VUS" "ACMG"
"0001009629" "0" "70" "1" "94486836" "94486836" "subst" "8.12255E-6" "01695" "ABCA4_001739" "g.94486836G>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4, PM5, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94021280G>A" "" "likely pathogenic" "ACMG"
"0001009630" "0" "70" "1" "94486835" "94486835" "subst" "0" "01695" "ABCA4_001018" "g.94486835G>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4, PM5, PP3_m; severity category moderate/severe" "SUMMARY record" "" "" "0" "" "" "g.94021279G>A" "" "likely pathogenic" "ACMG"
"0001009631" "0" "50" "1" "94486819" "94486819" "subst" "0" "01695" "ABCA4_001738" "g.94486819C>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94021263C>G" "" "VUS" "ACMG"
"0001009632" "0" "50" "1" "94486819" "94486819" "subst" "0" "01695" "ABCA4_001368" "g.94486819C>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94021263C>A" "" "VUS" "ACMG"
"0001009633" "0" "50" "1" "94486818" "94486818" "subst" "0.00010559" "01695" "ABCA4_001737" "g.94486818C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PP3; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94021262C>T" "" "VUS" "ACMG"
"0001009634" "0" "90" "1" "94486791" "94486791" "subst" "0" "01695" "ABCA4_001253" "g.94486791C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS3_M, PS4, PM3_S, PP3; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94021235C>T" "" "pathogenic" "ACMG"
"0001009635" "0" "30" "1" "94486788" "94486788" "subst" "0.000735109" "01695" "ABCA4_000894" "g.94486788T>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG BP4_m" "SUMMARY record" "" "" "0" "" "" "g.94021232T>C" "" "likely benign" "ACMG"
"0001009636" "0" "90" "1" "94485316" "94485316" "del" "0" "01695" "ABCA4_001735" "g.94485316del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94019760del" "" "pathogenic" "ACMG"
"0001009637" "0" "90" "1" "94485316" "94485316" "subst" "0" "01695" "ABCA4_001736" "g.94485316C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PM3_sup; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94019760C>T" "" "pathogenic" "ACMG"
"0001009638" "0" "50" "1" "94485308" "94485308" "subst" "0" "01695" "ABCA4_001534" "g.94485308T>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94019752T>G" "" "VUS" "ACMG"
"0001009639" "0" "90" "1" "94485284" "94485284" "del" "0" "01695" "ABCA4_001284" "g.94485284del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PS4, PM3, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94019728del" "" "pathogenic" "ACMG"
"0001009640" "0" "50" "1" "94485283" "94485283" "subst" "1.64078E-5" "01695" "ABCA4_001734" "g.94485283A>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94019727A>T" "" "VUS" "ACMG"
"0001009641" "0" "70" "1" "94485275" "94485275" "subst" "4.09068E-5" "01695" "ABCA4_001089" "g.94485275T>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4, PM3, PP3_m; severity category mild/moderate" "SUMMARY record" "" "" "0" "" "" "g.94019719T>A" "" "likely pathogenic" "ACMG"
"0001009642" "0" "90" "1" "94485275" "94485275" "del" "0" "01695" "ABCA4_001017" "g.94485275del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PS4, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94019719del" "" "pathogenic" "ACMG"
"0001009643" "0" "50" "1" "94485262" "94485262" "subst" "0" "01695" "ABCA4_001733" "g.94485262G>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PP3_m; severity category uncertain" "SUMMARY record" "" "" "0" "" "" "g.94019706G>A" "" "VUS" "ACMG"
"0001009644" "0" "70" "1" "94485250" "94485250" "subst" "0" "01695" "ABCA4_001732" "g.94485250G>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94019694G>T" "" "likely pathogenic" "ACMG"
"0001009645" "0" "50" "1" "94485246" "94485246" "subst" "0" "01695" "ABCA4_002330" "g.94485246G>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94019690G>T" "" "VUS" "ACMG"
"0001009646" "0" "50" "1" "94485242" "94485242" "subst" "0" "01695" "ABCA4_001283" "g.94485242C>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PP3_m; severity category uncertain" "SUMMARY record" "" "" "0" "" "" "g.94019686C>A" "" "VUS" "ACMG"
"0001009647" "0" "90" "1" "94485240" "94485240" "del" "0" "01695" "ABCA4_001731" "g.94485240del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PM3, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94019684del" "" "pathogenic" "ACMG"
"0001009648" "0" "90" "1" "94485234" "94485234" "subst" "0" "01695" "ABCA4_001282" "g.94485234A>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PM3_sup, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94019678A>C" "" "pathogenic" "ACMG"
"0001009649" "0" "90" "1" "94485225" "94485225" "del" "0" "01695" "ABCA4_000472" "g.94485225del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94019669del" "" "pathogenic" "ACMG"
"0001009650" "0" "50" "1" "94485224" "94485224" "subst" "0" "01695" "ABCA4_001730" "g.94485224C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94019668C>T" "" "VUS" "ACMG"
"0001009651" "0" "50" "1" "94485206" "94485206" "subst" "8.20042E-6" "01695" "ABCA4_001729" "g.94485206T>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM3_sup, PP3_m; severity category mild/moderate" "SUMMARY record" "" "" "0" "" "" "g.94019650T>G" "" "VUS" "ACMG"
"0001009652" "0" "70" "1" "94485197" "94485197" "subst" "1.23624E-5" "01695" "ABCA4_001496" "g.94485197G>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM3_sup, PM5, PP3_m; severity category mild/moderate" "SUMMARY record" "" "" "0" "" "" "g.94019641G>T" "" "likely pathogenic" "ACMG"
"0001009653" "0" "50" "1" "94485197" "94485197" "subst" "0" "01695" "ABCA4_001728" "g.94485197G>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM5, PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94019641G>C" "" "VUS" "ACMG"
"0001009654" "0" "90" "1" "94485196" "94485197" "delins" "0" "01695" "ABCA4_001727" "g.94485196_94485197delinsCT" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS1, PS4, PM3_sup, PM4, PP3; severity category moderate" "SUMMARY record" "" "" "0" "" "" "g.94019640_94019641delinsCT" "" "pathogenic" "ACMG"
"0001009655" "0" "90" "1" "94485185" "94485185" "subst" "0" "01695" "ABCA4_001087" "g.94485185C>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94019629C>A" "" "pathogenic" "ACMG"
"0001009656" "0" "50" "1" "94485181" "94485181" "subst" "0" "01695" "ABCA4_001726" "g.94485181A>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94019625A>C" "" "VUS" "ACMG"
"0001009657" "0" "50" "1" "94485167" "94485167" "subst" "0" "01695" "ABCA4_001356" "g.94485167A>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM3_sup, PP3_m; severity category uncertain" "SUMMARY record" "" "" "0" "" "" "g.94019611A>G" "" "VUS" "ACMG"
"0001009658" "0" "90" "1" "94485165" "94485165" "subst" "0" "01695" "ABCA4_001016" "g.94485165G>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94019609G>C" "" "pathogenic" "ACMG"
"0001009659" "0" "70" "1" "94485164" "94485164" "subst" "0" "01695" "ABCA4_001515" "g.94485164A>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4, PP3_m; severity category moderate/severe" "SUMMARY record" "" "" "0" "" "" "g.94019608A>G" "" "likely pathogenic" "ACMG"
"0001009660" "0" "70" "1" "94485163" "94485163" "subst" "0" "01695" "ABCA4_001725" "g.94485163C>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM3_sup, PM5, PP3_m; severity category uncertain" "SUMMARY record" "" "" "0" "" "" "g.94019607C>A" "" "likely pathogenic" "ACMG"
"0001009661" "0" "90" "1" "94485162" "94485162" "subst" "0" "01695" "ABCA4_001419" "g.94485162C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PS4, PM3, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94019606C>T" "" "pathogenic" "ACMG"
"0001009662" "0" "90" "1" "94485159" "94485159" "dup" "0" "01695" "ABCA4_001453" "g.94485159dup" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PS4, PM3_sup, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94019603dup" "" "pathogenic" "ACMG"
"0001009663" "0" "90" "1" "94485157" "94485158" "ins" "0" "01695" "ABCA4_001040" "g.94485157_94485158insC" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94019601_94019602insC" "" "pathogenic" "ACMG"
"0001009664" "0" "90" "1" "94485145" "94485145" "subst" "0" "01695" "ABCA4_001015" "g.94485145C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PS4, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94019589C>T" "" "pathogenic" "ACMG"
"0001009665" "0" "50" "1" "94485136" "94485136" "dup" "0" "01695" "ABCA4_001724" "g.94485136dup" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4, PP3; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94019580dup" "" "VUS" "ACMG"
"0001009666" "0" "10" "1" "94484239" "94484239" "subst" "0" "01695" "ABCA4_001723" "g.94484239G>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG BS3_sup, BS1, BP4_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94018683G>A" "" "benign" "ACMG"
"0001009667" "0" "50" "1" "94484125" "94484125" "subst" "0" "01695" "ABCA4_001210" "g.94484125T>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS3_M, PM2_sup, PP3; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94018569T>C" "" "VUS" "ACMG"
"0001009668" "0" "30" "1" "94484123" "94484123" "subst" "0" "01695" "ABCA4_001722" "g.94484123T>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG BS3_sup, PM2_sup, BP4_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94018567T>C" "" "likely benign" "ACMG"
"0001009669" "0" "90" "1" "94484082" "94484082" "subst" "0" "01695" "ABCA4_000028" "g.94484082T>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS3_M, PS4, PM3_V, PP3; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94018526T>C" "" "pathogenic" "ACMG"
"0001009670" "0" "30" "1" "94484061" "94484061" "del" "0" "01695" "ABCA4_001721" "g.94484061del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG BS1, BP4_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94018505del" "" "likely benign" "ACMG"
"0001009671" "0" "10" "1" "94484002" "94484002" "subst" "0" "01695" "ABCA4_000017" "g.94484002G>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG BS3_sup, BS1, BP4_m" "SUMMARY record" "" "" "0" "" "" "g.94018446G>T" "" "benign" "ACMG"
"0001009672" "0" "90" "1" "94484001" "94484001" "subst" "0" "01695" "ABCA4_000016" "g.94484001C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4, PM3_V, BP4_m; severity category mild" "SUMMARY record" "" "" "0" "" "" "g.94018445C>T" "" "pathogenic" "ACMG"
"0001009673" "0" "30" "1" "94483980" "94483980" "subst" "0" "01695" "ABCA4_001720" "g.94483980G>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG BP4_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94018424G>A" "" "likely benign" "ACMG"
"0001009674" "0" "10" "1" "94483979" "94483979" "subst" "0" "01695" "ABCA4_000018" "g.94483979C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG BS3_sup, BS1, BP4_m" "SUMMARY record" "" "" "0" "" "" "g.94018423C>T" "" "benign" "ACMG"
"0001009675" "0" "90" "1" "94483922" "94483922" "subst" "0" "01695" "ABCA4_000027" "g.94483922G>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS3_sup, PS4, PM3_S, PP3; severity category moderate" "SUMMARY record" "" "" "0" "" "" "g.94018366G>T" "" "pathogenic" "ACMG"
"0001009676" "0" "70" "1" "94481967" "94481967" "subst" "0" "01695" "ABCA4_001719" "g.94481967C>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS3_M, PM2_sup, PM3, PP3; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94016411C>A" "" "likely pathogenic" "ACMG"
"0001009677" "0" "30" "1" "94481413" "94481413" "subst" "0" "01695" "ABCA4_001533" "g.94481413C>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, BP4_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94015857C>G" "" "likely benign" "ACMG"
"0001009678" "0" "70" "1" "94481411" "94481411" "subst" "0" "01695" "ABCA4_001718" "g.94481411C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94015855C>T" "" "likely pathogenic" "ACMG"
"0001009679" "0" "50" "1" "94481409" "94481409" "subst" "2.47317E-5" "01695" "ABCA4_001717" "g.94481409A>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, BP4; severity category mild/moderate" "SUMMARY record" "" "" "0" "" "" "g.94015853A>G" "" "VUS" "ACMG"
"0001009680" "0" "90" "1" "94481407" "94481407" "del" "0" "01695" "ABCA4_001716" "g.94481407del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94015851del" "" "pathogenic" "ACMG"
"0001009681" "0" "50" "1" "94481393" "94481393" "subst" "0" "01695" "ABCA4_001715" "g.94481393A>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PP3; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94015837A>C" "" "VUS" "ACMG"
"0001009682" "0" "50" "1" "94481391" "94481391" "subst" "0" "01695" "ABCA4_001713" "g.94481391G>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM3, PP3_m; severity category uncertain" "SUMMARY record" "" "" "0" "" "" "g.94015835G>T" "" "VUS" "ACMG"
"0001009683" "0" "50" "1" "94481391" "94481393" "dup" "0" "01695" "ABCA4_001714" "g.94481391_94481393dup" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4, BP4_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94015835_94015837dup" "" "VUS" "ACMG"
"0001009684" "0" "50" "1" "94481388" "94481388" "subst" "0" "01695" "ABCA4_001712" "g.94481388C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94015832C>T" "" "VUS" "ACMG"
"0001009685" "0" "90" "1" "94481385" "94481385" "del" "0" "01695" "ABCA4_001711" "g.94481385del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94015829del" "" "pathogenic" "ACMG"
"0001009686" "0" "90" "1" "94481381" "94481381" "del" "0" "01695" "ABCA4_001710" "g.94481381del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94015825del" "" "pathogenic" "ACMG"
"0001009687" "0" "50" "1" "94481376" "94481376" "subst" "0" "01695" "ABCA4_001709" "g.94481376C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup; severity category uncertain" "SUMMARY record" "" "" "0" "" "" "g.94015820C>T" "" "VUS" "ACMG"
"0001009688" "0" "50" "1" "94481372" "94481372" "subst" "1.21979E-5" "01695" "ABCA4_002470" "g.94481372G>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94015816G>C" "" "VUS" "ACMG"
"0001009689" "0" "70" "1" "94481364" "94481364" "subst" "0" "01695" "ABCA4_000864" "g.94481364C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4, PM3, PM5; causative variant of unknown severity" "SUMMARY record" "" "" "0" "" "" "g.94015808C>T" "" "likely pathogenic" "ACMG"
"0001009690" "0" "50" "1" "94481346" "94481346" "subst" "0" "01695" "ABCA4_001708" "g.94481346T>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94015790T>C" "" "VUS" "ACMG"
"0001009691" "0" "50" "1" "94481325" "94481325" "subst" "0" "01695" "ABCA4_001707" "g.94481325G>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4, PP3; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94015769G>C" "" "VUS" "ACMG"
"0001009692" "0" "30" "1" "94481300" "94481300" "subst" "0.000150628" "01695" "ABCA4_001706" "g.94481300C>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG BP4_m, BP7" "SUMMARY record" "" "" "0" "" "" "g.94015744C>G" "" "likely benign" "ACMG"
"0001009693" "0" "70" "1" "94481299" "94481299" "subst" "0" "01695" "ABCA4_001705" "g.94481299A>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4, PP3_m; severity category uncertain" "SUMMARY record" "" "" "0" "" "" "g.94015743A>C" "" "likely pathogenic" "ACMG"
"0001009694" "0" "70" "1" "94481296" "94481296" "subst" "4.07329E-6" "01695" "ABCA4_001532" "g.94481296C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4, PM3_sup, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94015740C>T" "" "likely pathogenic" "ACMG"
"0001009695" "0" "30" "1" "94481287" "94481287" "subst" "0.000171629" "01695" "ABCA4_001207" "g.94481287C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG BP4_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94015731C>T" "" "likely benign" "ACMG"
"0001009696" "0" "70" "1" "94480338" "94483658" "del" "0" "01695" "ABCA4_001704" "g.94480338_94483658del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94014782_94018102del" "" "likely pathogenic" "ACMG"
"0001009697" "0" "30" "1" "94480256" "94480256" "subst" "0" "01695" "ABCA4_001703" "g.94480256A>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG BS3_sup, PM2_sup, BP4_m; severity category mild/moderate" "SUMMARY record" "" "" "0" "" "" "g.94014700A>G" "" "likely benign" "ACMG"
"0001009698" "0" "90" "1" "94480248" "94480248" "del" "0" "01695" "ABCA4_001056" "g.94480248del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PS4, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94014692del" "" "pathogenic" "ACMG"
"0001009699" "0" "90" "1" "94480244" "94480244" "subst" "4.06128E-6" "01695" "ABCA4_001399" "g.94480244C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PM3_sup, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94014688C>T" "" "pathogenic" "ACMG"
"0001009700" "0" "90" "1" "94480243" "94480248" "del" "0" "01695" "ABCA4_000863" "g.94480243_94480248del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PM3_sup, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94014687_94014692del" "" "pathogenic" "ACMG"
"0001009701" "0" "90" "1" "94480241" "94480242" "ins" "0" "01695" "ABCA4_001702" "g.94480241_94480242insT" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94014685_94014686insT" "" "pathogenic" "ACMG"
"0001009702" "0" "50" "1" "94480230" "94480230" "subst" "6.09177E-5" "01695" "ABCA4_001053" "g.94480230T>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4, PM3_sup; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94014674T>A" "" "VUS" "ACMG"
"0001009703" "0" "70" "1" "94480227" "94480227" "subst" "0" "01695" "ABCA4_001701" "g.94480227T>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4, PM3_sup, PM5, PP3_m; severity category mild/moderate" "SUMMARY record" "" "" "0" "" "" "g.94014671T>C" "" "likely pathogenic" "ACMG"
"0001009704" "0" "70" "1" "94480227" "94480227" "subst" "8.12222E-6" "01695" "ABCA4_001700" "g.94480227T>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4, PM3_sup, PM5, PP3_m; severity category mild/moderate" "SUMMARY record" "" "" "0" "" "" "g.94014671T>A" "" "likely pathogenic" "ACMG"
"0001009705" "0" "70" "1" "94480226" "94480226" "subst" "0" "01695" "ABCA4_001699" "g.94480226A>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM3, PM5, PP3_m; severity category mild/moderate" "SUMMARY record" "" "" "0" "" "" "g.94014670A>T" "" "likely pathogenic" "ACMG"
"0001009706" "0" "90" "1" "94480224" "94480227" "del" "0" "01695" "ABCA4_001014" "g.94480224_94480227del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94014668_94014671del" "" "pathogenic" "ACMG"
"0001009707" "0" "50" "1" "94480217" "94480217" "subst" "0" "01695" "ABCA4_001698" "g.94480217G>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM3, PP3_m; severity category uncertain" "SUMMARY record" "" "" "0" "" "" "g.94014661G>T" "" "VUS" "ACMG"
"0001009708" "0" "50" "1" "94480208" "94480208" "subst" "4.06138E-6" "01695" "ABCA4_001697" "g.94480208A>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM3, PP3_m; severity category mild/moderate" "SUMMARY record" "" "" "0" "" "" "g.94014652A>G" "" "VUS" "ACMG"
"0001009709" "0" "50" "1" "94480208" "94480208" "subst" "8.12275E-6" "01695" "ABCA4_001013" "g.94480208A>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM3_sup, PP3_m; severity category mild/moderate" "SUMMARY record" "" "" "0" "" "" "g.94014652A>C" "" "VUS" "ACMG"
"0001009710" "0" "90" "1" "94480208" "94480209" "ins" "0" "01695" "ABCA4_002469" "g.94480208_94480209insTC" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94014652_94014653insTC" "" "pathogenic" "ACMG"
"0001009711" "0" "50" "1" "94480196" "94480196" "subst" "0" "01695" "ABCA4_001696" "g.94480196G>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94014640G>A" "" "VUS" "ACMG"
"0001009712" "0" "50" "1" "94480192" "94480192" "subst" "0" "01695" "ABCA4_001488" "g.94480192G>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM3_sup, PP3_m; severity category uncertain" "SUMMARY record" "" "" "0" "" "" "g.94014636G>C" "" "VUS" "ACMG"
"0001009713" "0" "90" "1" "94480188" "94480188" "dup" "0" "01695" "ABCA4_001695" "g.94480188dup" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94014632dup" "" "pathogenic" "ACMG"
"0001009714" "0" "70" "1" "94480182" "94480182" "subst" "0" "01695" "ABCA4_001452" "g.94480182C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4, PM3_sup, PP3_m; causative variant of unknown severity" "SUMMARY record" "" "" "0" "" "" "g.94014626C>T" "" "likely pathogenic" "ACMG"
"0001009715" "0" "70" "1" "94480179" "94480179" "subst" "0" "01695" "ABCA4_000991" "g.94480179C>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS3_sup, PS4, PM3_sup, PM5, PP3; severity category moderate" "SUMMARY record" "" "" "0" "" "" "g.94014623C>G" "" "likely pathogenic" "ACMG"
"0001009716" "0" "50" "1" "94480176" "94480176" "subst" "8.12255E-6" "01695" "ABCA4_002288" "g.94480176A>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM5, PP3; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94014620A>C" "" "VUS" "ACMG"
"0001009717" "0" "70" "1" "94480175" "94480175" "subst" "0" "01695" "ABCA4_001694" "g.94480175A>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4, PM3_sup, PP3_m; severity category moderate/severe" "SUMMARY record" "" "" "0" "" "" "g.94014619A>G" "" "likely pathogenic" "ACMG"
"0001009718" "0" "90" "1" "94480169" "94480170" "del" "0" "01695" "ABCA4_001266" "g.94480169_94480170del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94014613_94014614del" "" "pathogenic" "ACMG"
"0001009719" "0" "30" "1" "94480168" "94480168" "subst" "9.7473E-5" "01695" "ABCA4_001495" "g.94480168A>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG BP4_m, BP7; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94014612A>G" "" "likely benign" "ACMG"
"0001009720" "0" "50" "1" "94480155" "94480155" "subst" "4.06091E-6" "01695" "ABCA4_002468" "g.94480155T>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94014599T>C" "" "VUS" "ACMG"
"0001009721" "0" "50" "1" "94480142" "94480142" "subst" "0" "01695" "ABCA4_001693" "g.94480142C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94014586C>T" "" "VUS" "ACMG"
"0001009722" "0" "50" "1" "94480124" "94480124" "subst" "1.21824E-5" "01695" "ABCA4_001692" "g.94480124A>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS3_M, PM3_sup, PP3; severity category uncertain" "SUMMARY record" "" "" "0" "" "" "g.94014568A>T" "" "VUS" "ACMG"
"0001009723" "0" "50" "1" "94480112" "94480112" "subst" "0" "01695" "ABCA4_001494" "g.94480112A>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94014556A>G" "" "VUS" "ACMG"
"0001009724" "0" "90" "1" "94480107" "94480107" "del" "0" "01695" "ABCA4_001050" "g.94480107del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94014551del" "" "pathogenic" "ACMG"
"0001009725" "0" "90" "1" "94480098" "94480098" "subst" "4.06081E-6" "01695" "ABCA4_001366" "g.94480098C>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PM3_sup; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94014542C>G" "" "pathogenic" "ACMG"
"0001009726" "0" "50" "1" "94480095" "94480095" "subst" "0" "01695" "ABCA4_001691" "g.94480095T>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4, PP3; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94014539T>C" "" "VUS" "ACMG"
"0001009727" "0" "50" "1" "94480095" "94480095" "subst" "4.06095E-6" "01695" "ABCA4_001281" "g.94480095T>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM3_sup, PP3; severity category mild/moderate" "SUMMARY record" "" "" "0" "" "" "g.94014539T>A" "" "VUS" "ACMG"
"0001009728" "0" "30" "1" "94478782" "94478784" "delins" "0" "01695" "ABCA4_001524" "g.94478782_94478784delinsTA" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, BP4_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94013226_94013228delinsTA" "" "likely benign" "ACMG"
"0001009729" "0" "30" "1" "94478330" "94478330" "subst" "0" "01695" "ABCA4_000195" "g.94478330G>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG BS3_sup, PM2_sup, BP2, BP4_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94012774G>T" "" "likely benign" "ACMG"
"0001009730" "0" "50" "1" "94478262" "94478262" "subst" "0" "01695" "ABCA4_002322" "g.94478262T>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PP3; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94012706T>C" "" "VUS" "ACMG"
"0001009731" "0" "30" "1" "94476949" "94476949" "subst" "0" "01695" "ABCA4_000961" "g.94476949A>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, BP4_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94011393A>C" "" "likely benign" "ACMG"
"0001009732" "0" "30" "1" "94476947" "94476947" "subst" "0" "01695" "ABCA4_002304" "g.94476947A>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, BP4_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94011391A>G" "" "likely benign" "ACMG"
"0001009733" "0" "50" "1" "94476947" "94476947" "subst" "0" "01695" "ABCA4_002467" "g.94476947A>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS3_M, PM2_sup, PP3; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94011391A>C" "" "VUS" "ACMG"
"0001009734" "0" "90" "1" "94476942" "94476942" "subst" "0" "01695" "ABCA4_001487" "g.94476942C>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PS4, PM3; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94011386C>A" "" "pathogenic" "ACMG"
"0001009735" "0" "50" "1" "94476940" "94476940" "subst" "5.28894E-5" "01695" "ABCA4_001690" "g.94476940G>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM3_sup; causative variant of unknown severity" "SUMMARY record" "" "" "0" "" "" "g.94011384G>A" "" "VUS" "ACMG"
"0001009736" "0" "50" "1" "94476939" "94476939" "subst" "2.03371E-5" "01695" "ABCA4_001398" "g.94476939C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM3_sup, BP4_m; severity category uncertain" "SUMMARY record" "" "" "0" "" "" "g.94011383C>T" "" "VUS" "ACMG"
"0001009737" "0" "30" "1" "94476924" "94476924" "subst" "1.62614E-5" "01695" "ABCA4_001689" "g.94476924G>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, BP4_m, BP7; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94011368G>A" "" "likely benign" "ACMG"
"0001009738" "0" "30" "1" "94476920" "94476920" "subst" "9.34815E-5" "01695" "ABCA4_001688" "g.94476920C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG BP4; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94011364C>T" "" "likely benign" "ACMG"
"0001009739" "0" "50" "1" "94476916" "94476916" "subst" "0" "01695" "ABCA4_001687" "g.94476916A>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PP3_m; severity category uncertain" "SUMMARY record" "" "" "0" "" "" "g.94011360A>G" "" "VUS" "ACMG"
"0001009740" "0" "50" "1" "94476901" "94476901" "subst" "6.50005E-5" "01695" "ABCA4_001486" "g.94476901A>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "severity category mild" "SUMMARY record" "" "" "0" "" "" "g.94011345A>G" "" "VUS" "ACMG"
"0001009741" "0" "50" "1" "94476893" "94476893" "subst" "4.0624E-6" "01695" "ABCA4_001418" "g.94476893G>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM5, PP3_m; severity category uncertain" "SUMMARY record" "" "" "0" "" "" "g.94011337G>T" "" "VUS" "ACMG"
"0001009742" "0" "70" "1" "94476893" "94476893" "subst" "0" "01695" "ABCA4_001059" "g.94476893G>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94011337G>A" "" "likely pathogenic" "ACMG"
"0001009743" "0" "90" "1" "94476890" "94476890" "subst" "0" "01695" "ABCA4_001386" "g.94476890G>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS3_M, PS4, PM5, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94011334G>A" "" "pathogenic" "ACMG"
"0001009744" "0" "70" "1" "94476889" "94476889" "subst" "0" "01695" "ABCA4_000892" "g.94476889T>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS3_M, PM2_sup, PM5, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94011333T>C" "" "likely pathogenic" "ACMG"
"0001009745" "0" "90" "1" "94476882" "94476882" "subst" "0" "01695" "ABCA4_001686" "g.94476882G>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PS4, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94011326G>T" "" "pathogenic" "ACMG"
"0001009746" "0" "70" "1" "94476875" "94476875" "subst" "1.62489E-5" "01695" "ABCA4_001280" "g.94476875G>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4, PM3, PP3_m; severity category mild/moderate" "SUMMARY record" "" "" "0" "" "" "g.94011319G>A" "" "likely pathogenic" "ACMG"
"0001009747" "0" "50" "1" "94476872" "94476872" "subst" "0" "01695" "ABCA4_001685" "g.94476872C>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM3_sup, PP3_m; severity category mild/moderate" "SUMMARY record" "" "" "0" "" "" "g.94011316C>A" "" "VUS" "ACMG"
"0001009748" "0" "90" "1" "94476848" "94476848" "subst" "0" "01695" "ABCA4_001451" "g.94476848G>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94011292G>A" "" "pathogenic" "ACMG"
"0001009749" "0" "50" "1" "94476847" "94476873" "dup" "0" "01695" "ABCA4_001684" "g.94476847_94476873dup" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM4, PP3; severity category uncertain" "SUMMARY record" "" "" "0" "" "" "g.94011291_94011317dup" "" "VUS" "ACMG"
"0001009750" "0" "50" "1" "94476844" "94476844" "subst" "0" "01695" "ABCA4_001683" "g.94476844G>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94011288G>T" "" "VUS" "ACMG"
"0001009751" "0" "50" "1" "94476842" "94476842" "subst" "2.43764E-5" "01695" "ABCA4_001682" "g.94476842C>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94011286C>A" "" "VUS" "ACMG"
"0001009752" "0" "50" "1" "94476832" "94476832" "subst" "0" "01695" "ABCA4_001681" "g.94476832A>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PP3; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94011276A>C" "" "VUS" "ACMG"
"0001009753" "0" "70" "1" "94476830" "94476830" "subst" "8.12671E-6" "01695" "ABCA4_001680" "g.94476830A>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4, PM3, PP3_m; causative variant of unknown severity" "SUMMARY record" "" "" "0" "" "" "g.94011274A>T" "" "likely pathogenic" "ACMG"
"0001009754" "0" "90" "1" "94476828" "94476828" "subst" "0" "01695" "ABCA4_001679" "g.94476828A>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94011272A>T" "" "pathogenic" "ACMG"
"0001009755" "0" "50" "1" "94476827" "94476827" "subst" "0" "01695" "ABCA4_001100" "g.94476827C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94011271C>T" "" "VUS" "ACMG"
"0001009756" "0" "50" "1" "94476818" "94476818" "subst" "0" "01695" "ABCA4_001678" "g.94476818C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PP3; severity category uncertain" "SUMMARY record" "" "" "0" "" "" "g.94011262C>T" "" "VUS" "ACMG"
"0001009757" "0" "70" "1" "94476818" "94476818" "subst" "0" "01695" "ABCA4_001677" "g.94476818C>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4, PP3_m; severity category moderate/severe" "SUMMARY record" "" "" "0" "" "" "g.94011262C>A" "" "likely pathogenic" "ACMG"
"0001009758" "0" "30" "1" "94476804" "94476804" "subst" "1.22034E-5" "01695" "ABCA4_001676" "g.94476804C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, BP4_m; causative variant of unknown severity" "SUMMARY record" "" "" "0" "" "" "g.94011248C>T" "" "likely benign" "ACMG"
"0001009759" "0" "30" "1" "94476784" "94476784" "subst" "0" "01695" "ABCA4_000425" "g.94476784G>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, BP4_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94011228G>A" "" "likely benign" "ACMG"
"0001009760" "0" "50" "1" "94476477" "94476477" "subst" "0.000125969" "01695" "ABCA4_001099" "g.94476477G>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94010921G>A" "" "VUS" "ACMG"
"0001009761" "0" "50" "1" "94476464" "94476464" "subst" "4.06266E-5" "01695" "ABCA4_001205" "g.94476464G>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94010908G>A" "" "VUS" "ACMG"
"0001009762" "0" "50" "1" "94476459" "94476459" "subst" "0" "01695" "ABCA4_001098" "g.94476459G>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94010903G>A" "" "VUS" "ACMG"
"0001009763" "0" "90" "1" "94476455" "94476455" "subst" "0" "01695" "ABCA4_001675" "g.94476455C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94010899C>T" "" "pathogenic" "ACMG"
"0001009764" "0" "90" "1" "94476454" "94476454" "subst" "4.062E-6" "01695" "ABCA4_001674" "g.94476454C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PS4, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94010898C>T" "" "pathogenic" "ACMG"
"0001009765" "0" "50" "1" "94476452" "94476452" "subst" "8.12374E-6" "01695" "ABCA4_001673" "g.94476452T>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PP3; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94010896T>C" "" "VUS" "ACMG"
"0001009766" "0" "50" "1" "94476449" "94476449" "subst" "0" "01695" "ABCA4_001030" "g.94476449A>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM3, PP3_m; severity category uncertain" "SUMMARY record" "" "" "0" "" "" "g.94010893A>G" "" "VUS" "ACMG"
"0001009767" "0" "90" "1" "94476433" "94476433" "del" "0" "01695" "ABCA4_001672" "g.94476433del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94010877del" "" "pathogenic" "ACMG"
"0001009768" "0" "30" "1" "94476430" "94476430" "subst" "0.000694501" "01695" "ABCA4_002466" "g.94476430A>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG BP4; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94010874A>T" "" "likely benign" "ACMG"
"0001009769" "0" "50" "1" "94476428" "94476428" "subst" "0" "01695" "ABCA4_001546" "g.94476428G>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PP3; severity category uncertain" "SUMMARY record" "" "" "0" "" "" "g.94010872G>C" "" "VUS" "ACMG"
"0001009770" "0" "90" "1" "94476416" "94476416" "del" "0" "01695" "ABCA4_001671" "g.94476416del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94010860del" "" "pathogenic" "ACMG"
"0001009771" "0" "70" "1" "94476414" "94476414" "subst" "0" "01695" "ABCA4_001670" "g.94476414C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4, PM3, PP3_m; severity category mild/moderate" "SUMMARY record" "" "" "0" "" "" "g.94010858C>T" "" "likely pathogenic" "ACMG"
"0001009772" "0" "10" "1" "94476388" "94476388" "subst" "0.215397" "01695" "ABCA4_000890" "g.94476388C>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG BS1, BP4_m, BP7" "SUMMARY record" "" "" "0" "" "" "g.94010832C>G" "" "benign" "ACMG"
"0001009773" "0" "90" "1" "94476385" "94476386" "del" "0" "01695" "ABCA4_002278" "g.94476385_94476386del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94010829_94010830del" "" "pathogenic" "ACMG"
"0001009774" "0" "90" "1" "94476381" "94476381" "subst" "0" "01695" "ABCA4_001668" "g.94476381G>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94010825G>A" "" "pathogenic" "ACMG"
"0001009775" "0" "50" "1" "94476379" "94476379" "subst" "0" "01695" "ABCA4_002303" "g.94476379C>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94010823C>A" "" "VUS" "ACMG"
"0001009776" "0" "50" "1" "94476370" "94476370" "subst" "0" "01695" "ABCA4_001531" "g.94476370G>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94010814G>T" "" "VUS" "ACMG"
"0001009777" "0" "90" "1" "94476367" "94476367" "dup" "0" "01695" "ABCA4_001667" "g.94476367dup" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94010811dup" "" "pathogenic" "ACMG"
"0001009778" "0" "50" "1" "94476369" "94476383" "del" "0" "01695" "ABCA4_002302" "g.94476369_94476383del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM4; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94010813_94010827del" "" "VUS" "ACMG"
"0001009779" "0" "90" "1" "94476364" "94476364" "dup" "0" "01695" "ABCA4_001092" "g.94476364dup" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94010808dup" "" "pathogenic" "ACMG"
"0001009780" "0" "90" "1" "94476355" "94476355" "subst" "4.0626E-6" "01695" "ABCA4_001666" "g.94476355C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PS4, PM3_sup; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94010799C>T" "" "pathogenic" "ACMG"
"0001009781" "0" "90" "1" "94476355" "94476355" "subst" "0" "01695" "ABCA4_001665" "g.94476355C>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PS4, PM3_sup; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94010799C>G" "" "pathogenic" "ACMG"
"0001009782" "0" "70" "1" "94476355" "94476355" "subst" "0" "01695" "ABCA4_002292" "g.94476355C>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94010799C>A" "" "likely pathogenic" "ACMG"
"0001009783" "0" "30" "1" "94476352" "94476352" "subst" "4.46955E-5" "01695" "ABCA4_001664" "g.94476352G>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG BP4_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94010796G>A" "" "likely benign" "ACMG"
"0001009784" "0" "30" "1" "94474462" "94474462" "subst" "0" "01695" "ABCA4_001530" "g.94474462T>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, BP4_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94008906T>G" "" "likely benign" "ACMG"
"0001009785" "0" "30" "1" "94474432" "94474432" "subst" "2.85339E-5" "01695" "ABCA4_001663" "g.94474432A>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG BS3_sup, PM3, BP4_m; severity category mild/moderate" "SUMMARY record" "" "" "0" "" "" "g.94008876A>G" "" "likely benign" "ACMG"
"0001009786" "0" "50" "1" "94474432" "94474432" "subst" "0" "01695" "ABCA4_001252" "g.94474432A>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS3_M, PM2_sup, PP3; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94008876A>C" "" "VUS" "ACMG"
"0001009787" "0" "90" "1" "94474428" "94474428" "subst" "0" "01695" "ABCA4_001662" "g.94474428C>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PS4; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94008872C>A" "" "pathogenic" "ACMG"
"0001009788" "0" "90" "1" "94474420" "94474420" "subst" "0" "01695" "ABCA4_001661" "g.94474420C>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94008864C>A" "" "pathogenic" "ACMG"
"0001009789" "0" "50" "1" "94474389" "94474389" "subst" "0" "01695" "ABCA4_001660" "g.94474389T>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM5, PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94008833T>C" "" "VUS" "ACMG"
"0001009790" "0" "70" "1" "94474389" "94474389" "subst" "0" "01695" "ABCA4_001493" "g.94474389T>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4, PM3_sup, PP3_m; severity category mild/moderate" "SUMMARY record" "" "" "0" "" "" "g.94008833T>A" "" "likely pathogenic" "ACMG"
"0001009791" "0" "50" "1" "94474387" "94474387" "subst" "8.93662E-5" "01695" "ABCA4_002265" "g.94474387C>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94008831C>A" "" "VUS" "ACMG"
"0001009792" "0" "50" "1" "94474381" "94474381" "subst" "0" "01695" "ABCA4_001385" "g.94474381C>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM5, PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94008825C>A" "" "VUS" "ACMG"
"0001009793" "0" "50" "1" "94474380" "94474380" "subst" "0" "01695" "ABCA4_001659" "g.94474380A>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM5, PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94008824A>C" "" "VUS" "ACMG"
"0001009794" "0" "90" "1" "94474381" "94474382" "del" "0" "01695" "ABCA4_002301" "g.94474381_94474382del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94008825_94008826del" "" "pathogenic" "ACMG"
"0001009795" "0" "70" "1" "94474369" "94474369" "subst" "4.06118E-6" "01695" "ABCA4_001658" "g.94474369T>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4, PM3, PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94008813T>C" "" "likely pathogenic" "ACMG"
"0001009796" "0" "70" "1" "94474368" "94474368" "subst" "4.06128E-6" "01695" "ABCA4_000887" "g.94474368C>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM3_sup, PM5, PP3_m; severity category uncertain" "SUMMARY record" "" "" "0" "" "" "g.94008812C>A" "" "likely pathogenic" "ACMG"
"0001009797" "0" "70" "1" "94474365" "94474365" "subst" "0" "01695" "ABCA4_001657" "g.94474365T>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4, PM3_sup, PP3; causative variant of unknown severity" "SUMMARY record" "" "" "0" "" "" "g.94008809T>G" "" "likely pathogenic" "ACMG"
"0001009798" "0" "90" "1" "94474364" "94474365" "del" "0" "01695" "ABCA4_001656" "g.94474364_94474365del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94008808_94008809del" "" "pathogenic" "ACMG"
"0001009799" "0" "50" "1" "94474332" "94474332" "subst" "4.06085E-6" "01695" "ABCA4_001655" "g.94474332A>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PP3_m; severity category uncertain" "SUMMARY record" "" "" "0" "" "" "g.94008776A>G" "" "VUS" "ACMG"
"0001009800" "0" "90" "1" "94474329" "94474329" "subst" "0" "01695" "ABCA4_000960" "g.94474329A>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94008773A>C" "" "pathogenic" "ACMG"
"0001009801" "0" "10" "1" "94474328" "94474328" "subst" "0.189409" "01695" "ABCA4_000886" "g.94474328T>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG BS1, BP4_m, BP7; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94008772T>C" "" "benign" "ACMG"
"0001009802" "0" "70" "1" "94474323" "94474323" "subst" "0" "01695" "ABCA4_001654" "g.94474323A>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4, PM5, PP3_m; causative variant of unknown severity" "SUMMARY record" "" "" "0" "" "" "g.94008767A>T" "" "likely pathogenic" "ACMG"
"0001009803" "0" "90" "1" "94474320" "94474320" "del" "0" "01695" "ABCA4_001653" "g.94474320del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, BP2, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94008764del" "" "pathogenic" "ACMG"
"0001009804" "0" "50" "1" "94474318" "94474318" "subst" "3.24855E-5" "01695" "ABCA4_001652" "g.94474318C>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4; severity category uncertain" "SUMMARY record" "" "" "0" "" "" "g.94008762C>G" "" "VUS" "ACMG"
"0001009805" "0" "30" "1" "94474302" "94474302" "subst" "0" "01695" "ABCA4_001651" "g.94474302C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, BP4_m; severity category uncertain" "SUMMARY record" "" "" "0" "" "" "g.94008746C>T" "" "likely benign" "ACMG"
"0001009806" "0" "30" "1" "94474291" "94474291" "subst" "3.65473E-5" "01695" "ABCA4_001650" "g.94474291A>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG BP4_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94008735A>G" "" "likely benign" "ACMG"
"0001009807" "0" "30" "1" "94473864" "94473864" "subst" "0.173865" "01695" "ABCA4_000885" "g.94473864C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG BS1, BP4_m" "SUMMARY record" "" "" "0" "" "" "g.94008308C>T" "" "likely benign" "ACMG"
"0001009808" "0" "70" "1" "94473855" "94473855" "subst" "0" "01695" "ABCA4_001649" "g.94473855T>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1_M, PS4; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94008299T>C" "" "likely pathogenic" "ACMG"
"0001009809" "0" "50" "1" "94473854" "94473854" "subst" "0" "01695" "ABCA4_001648" "g.94473854C>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1_S, PM2_sup; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94008298C>G" "" "VUS" "ACMG"
"0001009810" "0" "10" "1" "94473845" "94473845" "subst" "0.172485" "01695" "ABCA4_000884" "g.94473845T>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG BS1, BP4_m, BP7; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94008289T>C" "" "benign" "ACMG"
"0001009811" "0" "50" "1" "94473845" "94473846" "delins" "0" "01695" "ABCA4_002891" "g.94473845_94473846delinsGT" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94008289_94008290delinsGT" "" "VUS" "ACMG"
"0001009812" "0" "90" "1" "94473833" "94473833" "del" "0" "01695" "ABCA4_001647" "g.94473833del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94008277del" "" "pathogenic" "ACMG"
"0001009813" "0" "90" "1" "94473820" "94473823" "del" "0" "01695" "ABCA4_001646" "g.94473820_94473823del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94008264_94008267del" "" "pathogenic" "ACMG"
"0001009814" "0" "90" "1" "94473807" "94473807" "subst" "0" "01695" "ABCA4_001279" "g.94473807C>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4, PM3_V, PM5, PP3_m; severity category mild/moderate" "SUMMARY record" "" "" "0" "" "" "g.94008251C>G" "" "pathogenic" "ACMG"
"0001009815" "0" "50" "1" "94473804" "94473804" "subst" "0" "01695" "ABCA4_000854" "g.94473804A>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94008248A>T" "" "VUS" "ACMG"
"0001009816" "0" "50" "1" "94473802" "94473802" "subst" "8.12275E-6" "01695" "ABCA4_002277" "g.94473802G>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94008246G>A" "" "VUS" "ACMG"
"0001009817" "0" "50" "1" "94473791" "94473791" "subst" "0" "01695" "ABCA4_001026" "g.94473791C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM3, PP3; severity category mild/moderate" "SUMMARY record" "" "" "0" "" "" "g.94008235C>T" "" "VUS" "ACMG"
"0001009818" "0" "90" "1" "94473789" "94473789" "subst" "0" "01695" "ABCA4_001644" "g.94473789A>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PS4, PM3; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94008233A>G" "" "pathogenic" "ACMG"
"0001009819" "0" "50" "1" "94473786" "94473786" "subst" "0" "01695" "ABCA4_002465" "g.94473786C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS3_sup, PM2_sup, PM3_sup, PP3; severity category mild" "SUMMARY record" "" "" "0" "" "" "g.94008230C>T" "" "VUS" "ACMG"
"0001009820" "0" "50" "1" "94473299" "94473299" "subst" "0" "01695" "ABCA4_002276" "g.94473299A>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM3, PP3; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94007743A>C" "" "VUS" "ACMG"
"0001009821" "0" "50" "1" "94473296" "94473296" "subst" "0" "01695" "ABCA4_001642" "g.94473296A>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM3, PP3_m; severity category mild/moderate" "SUMMARY record" "" "" "0" "" "" "g.94007740A>C" "" "VUS" "ACMG"
"0001009822" "0" "90" "1" "94473293" "94473293" "del" "0" "01695" "ABCA4_001641" "g.94473293del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PS4, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94007737del" "" "pathogenic" "ACMG"
"0001009823" "0" "50" "1" "94473286" "94473286" "subst" "0" "01695" "ABCA4_001639" "g.94473286A>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94007730A>G" "" "VUS" "ACMG"
"0001009824" "0" "50" "1" "94473286" "94473288" "dup" "0" "01695" "ABCA4_001640" "g.94473286_94473288dup" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94007730_94007732dup" "" "VUS" "ACMG"
"0001009825" "0" "50" "1" "94473280" "94473280" "subst" "0" "01695" "ABCA4_001278" "g.94473280C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM5, PP3_m; severity category uncertain" "SUMMARY record" "" "" "0" "" "" "g.94007724C>T" "" "VUS" "ACMG"
"0001009826" "0" "50" "1" "94473271" "94473271" "subst" "0" "01695" "ABCA4_002300" "g.94473271C>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM5, PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94007715C>A" "" "VUS" "ACMG"
"0001009827" "0" "70" "1" "94473259" "94473259" "subst" "0" "01695" "ABCA4_001045" "g.94473259G>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94007703G>A" "" "likely pathogenic" "ACMG"
"0001009828" "0" "50" "1" "94473256" "94473256" "subst" "0" "01695" "ABCA4_001638" "g.94473256G>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PP3_m; severity category uncertain" "SUMMARY record" "" "" "0" "" "" "g.94007700G>A" "" "VUS" "ACMG"
"0001009829" "0" "90" "1" "94473254" "94473264" "dup" "0" "01695" "ABCA4_001637" "g.94473254_94473264dup" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94007698_94007708dup" "" "pathogenic" "ACMG"
"0001009830" "0" "50" "1" "94473253" "94473253" "subst" "0" "01695" "ABCA4_001636" "g.94473253G>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94007697G>C" "" "VUS" "ACMG"
"0001009831" "0" "70" "1" "94473244" "94473244" "subst" "4.07169E-6" "01695" "ABCA4_001449" "g.94473244A>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4, PM3_sup, PP3_m; causative variant of unknown severity" "SUMMARY record" "" "" "0" "" "" "g.94007688A>C" "" "likely pathogenic" "ACMG"
"0001009832" "0" "30" "1" "94473240" "94473240" "subst" "0" "01695" "ABCA4_001635" "g.94473240G>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, BP4_m, BP7; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94007684G>A" "" "likely benign" "ACMG"
"0001009833" "0" "50" "1" "94473236" "94473236" "subst" "0" "01695" "ABCA4_001484" "g.94473236C>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94007680C>A" "" "VUS" "ACMG"
"0001009834" "0" "30" "1" "94473222" "94473222" "subst" "8.14578E-6" "01695" "ABCA4_001043" "g.94473222C>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, BP4_m, BP7; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94007666C>G" "" "likely benign" "ACMG"
"0001009835" "0" "90" "1" "94473215" "94473215" "del" "0" "01695" "ABCA4_001634" "g.94473215del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94007659del" "" "pathogenic" "ACMG"
"0001009836" "0" "50" "1" "94473214" "94473214" "subst" "0" "01695" "ABCA4_001633" "g.94473214C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM3_sup, PP3_m; severity category uncertain" "SUMMARY record" "" "" "0" "" "" "g.94007658C>T" "" "VUS" "ACMG"
"0001009837" "0" "90" "1" "94473190" "94473190" "del" "0" "01695" "ABCA4_001031" "g.94473190del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94007634del" "" "pathogenic" "ACMG"
"0001009838" "0" "70" "1" "94473189" "94473189" "subst" "0" "01695" "ABCA4_001632" "g.94473189C>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94007633C>G" "" "likely pathogenic" "ACMG"
"0001009839" "0" "70" "1" "94473188" "94473188" "subst" "0" "01695" "ABCA4_001631" "g.94473188A>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94007632A>G" "" "likely pathogenic" "ACMG"
"0001009840" "0" "50" "1" "94471859" "94497093" "dup" "0" "01695" "ABCA4_002318" "g.94471859_94497093dup" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1_S, PM2_sup; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94006303_94031537dup" "" "VUS" "ACMG"
"0001009841" "0" "30" "1" "94471747" "94471747" "subst" "0" "01695" "ABCA4_000882" "g.94471747A>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG BS3_sup, BP4_m" "SUMMARY record" "" "" "0" "" "" "g.94006191A>T" "" "likely benign" "ACMG"
"0001009842" "0" "30" "1" "94471154" "94471154" "subst" "0.156733" "01695" "ABCA4_000881" "g.94471154C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG BS1, BP4_m" "SUMMARY record" "" "" "0" "" "" "g.94005598C>T" "" "likely benign" "ACMG"
"0001009843" "0" "70" "1" "94471140" "94471140" "subst" "0" "01695" "ABCA4_002296" "g.94471140T>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94005584T>C" "" "likely pathogenic" "ACMG"
"0001009844" "0" "90" "1" "94471139" "94471139" "subst" "0" "01695" "ABCA4_001372" "g.94471139C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PS4, PM3_sup; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94005583C>T" "" "pathogenic" "ACMG"
"0001009845" "0" "90" "1" "94471100" "94471113" "delins" "0" "01695" "ABCA4_001630" "g.94471100_94471113delinsAAATATTGGTTAAATACT" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PM3, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94005544_94005557delinsAAATATTGGTTAAATACT" "" "pathogenic" "ACMG"
"0001009846" "0" "90" "1" "94471094" "94471094" "subst" "0" "01695" "ABCA4_001629" "g.94471094C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4, PM3_S, PP3_m; severity category mild/moderate" "SUMMARY record" "" "" "0" "" "" "g.94005538C>T" "" "pathogenic" "ACMG"
"0001009847" "0" "50" "1" "94471076" "94471076" "subst" "3.24992E-5" "01695" "ABCA4_001628" "g.94471076A>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PP3; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94005520A>G" "" "VUS" "ACMG"
"0001009848" "0" "50" "1" "94471073" "94471073" "subst" "0" "01695" "ABCA4_001627" "g.94471073T>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94005517T>C" "" "VUS" "ACMG"
"0001009849" "0" "90" "1" "94471067" "94471067" "del" "0" "01695" "ABCA4_001012" "g.94471067del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94005511del" "" "pathogenic" "ACMG"
"0001009850" "0" "90" "1" "94471067" "94471067" "subst" "4.06237E-6" "01695" "ABCA4_001001" "g.94471067A>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4, PM3_S, PP3_m; severity category moderate" "SUMMARY record" "" "" "0" "" "" "g.94005511A>G" "" "pathogenic" "ACMG"
"0001009851" "0" "50" "1" "94471062" "94471062" "subst" "0" "01695" "ABCA4_002464" "g.94471062T>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM5, PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94005506T>C" "" "VUS" "ACMG"
"0001009852" "0" "70" "1" "94471061" "94471061" "subst" "0" "01695" "ABCA4_001247" "g.94471061G>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4, PM3, PP3_m; severity category mild/moderate" "SUMMARY record" "" "" "0" "" "" "g.94005505G>A" "" "likely pathogenic" "ACMG"
"0001009853" "0" "50" "1" "94471059" "94471059" "subst" "0" "01695" "ABCA4_001626" "g.94471059C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PP3_m; severity category uncertain" "SUMMARY record" "" "" "0" "" "" "g.94005503C>T" "" "VUS" "ACMG"
"0001009854" "0" "50" "1" "94471058" "94471058" "subst" "0" "01695" "ABCA4_001625" "g.94471058C>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PP3; severity category uncertain" "SUMMARY record" "" "" "0" "" "" "g.94005502C>A" "" "VUS" "ACMG"
"0001009855" "0" "70" "1" "94471047" "94471047" "subst" "0" "01695" "ABCA4_001624" "g.94471047G>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM3_sup, PM5, PP3_m; severity category mild/moderate" "SUMMARY record" "" "" "0" "" "" "g.94005491G>A" "" "likely pathogenic" "ACMG"
"0001009856" "0" "90" "1" "94471046" "94471046" "del" "0" "01695" "ABCA4_001044" "g.94471046del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94005490del" "" "pathogenic" "ACMG"
"0001009857" "0" "50" "1" "94471046" "94471046" "subst" "0" "01695" "ABCA4_000869" "g.94471046A>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM5, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94005490A>T" "" "VUS" "ACMG"
"0001009858" "0" "90" "1" "94471040" "94471040" "del" "0" "01695" "ABCA4_001623" "g.94471040del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94005484del" "" "pathogenic" "ACMG"
"0001009859" "0" "90" "1" "94471037" "94471037" "subst" "0" "01695" "ABCA4_001062" "g.94471037T>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4, PM3_V, PP3_m; severity category mild/moderate" "SUMMARY record" "" "" "0" "" "" "g.94005481T>C" "" "pathogenic" "ACMG"
"0001009860" "0" "90" "1" "94471037" "94471037" "delins" "0" "01695" "ABCA4_001622" "g.94471037delinsAA" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94005481delinsAA" "" "pathogenic" "ACMG"
"0001009861" "0" "70" "1" "94471034" "94471034" "subst" "0" "01695" "ABCA4_001621" "g.94471034G>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4, PM3, PP3_m; severity category mild/moderate" "SUMMARY record" "" "" "0" "" "" "g.94005478G>T" "" "likely pathogenic" "ACMG"
"0001009862" "0" "70" "1" "94471031" "94471031" "subst" "2.43825E-5" "01695" "ABCA4_001620" "g.94471031C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM3, PM5, PP3_m; causative variant of unknown severity" "SUMMARY record" "" "" "0" "" "" "g.94005475C>T" "" "likely pathogenic" "ACMG"
"0001009863" "0" "50" "1" "94471022" "94471022" "subst" "0" "01695" "ABCA4_001619" "g.94471022C>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM5, PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94005466C>A" "" "VUS" "ACMG"
"0001009864" "0" "50" "1" "94471019" "94471019" "subst" "0" "01695" "ABCA4_001369" "g.94471019A>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM3, PP3_m; severity category uncertain" "SUMMARY record" "" "" "0" "" "" "g.94005463A>C" "" "VUS" "ACMG"
"0001009865" "0" "50" "1" "94471017" "94471017" "subst" "8.12836E-6" "01695" "ABCA4_001618" "g.94471017G>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM3_sup, PP3_m; severity category uncertain" "SUMMARY record" "" "" "0" "" "" "g.94005461G>A" "" "VUS" "ACMG"
"0001009866" "0" "90" "1" "94471014" "94471036" "dup" "0" "01695" "ABCA4_001617" "g.94471014_94471036dup" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PM3_sup, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94005458_94005480dup" "" "pathogenic" "ACMG"
"0001009867" "0" "50" "1" "94470998" "94470998" "subst" "4.06329E-6" "01695" "ABCA4_001616" "g.94470998T>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4, PP3; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94005442T>G" "" "VUS" "ACMG"
"0001009868" "0" "90" "1" "94471001" "94471001" "del" "0" "01695" "ABCA4_001337" "g.94471001del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PS4, PM3; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94005445del" "" "pathogenic" "ACMG"
"0001009869" "0" "90" "1" "94470997" "94470997" "subst" "0" "01695" "ABCA4_001251" "g.94470997C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PS3_M, PM2_sup, PP3; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94005441C>T" "" "pathogenic" "ACMG"
"0001009870" "0" "70" "1" "94470996" "94470996" "subst" "0" "01695" "ABCA4_001615" "g.94470996C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94005440C>T" "" "likely pathogenic" "ACMG"
"0001009871" "0" "50" "1" "94470996" "94480247" "dup" "0" "01695" "ABCA4_002329" "g.94470996_94480247dup" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1_S, PM2_sup; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94005440_94014691dup" "" "VUS" "ACMG"
"0001009872" "0" "70" "1" "94470995" "94471002" "del" "0" "01695" "ABCA4_001614" "g.94470995_94471002del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1_S, PM2_sup, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94005439_94005446del" "" "likely pathogenic" "ACMG"
"0001009873" "0" "30" "1" "94470988" "94470988" "subst" "4.46951E-5" "01695" "ABCA4_001613" "g.94470988A>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG BP4_m; severity category uncertain" "SUMMARY record" "" "" "0" "" "" "g.94005432A>T" "" "likely benign" "ACMG"
"0001009874" "0" "50" "1" "94470977" "94480332" "dup" "0" "01695" "ABCA4_002321" "g.94470977_94480332dup" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1_S, PM2_sup; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94005421_94014776dup" "" "VUS" "ACMG"
"0001009875" "0" "70" "1" "94470240" "94472532" "delins" "0" "01695" "ABCA4_002463" "g.94470240_94472532delinsAACACTGTTAAA" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94004684_94006976delinsAACACTGTTAAA" "" "likely pathogenic" "ACMG"
"0001009876" "0" "30" "1" "94468037" "94468037" "subst" "0" "01695" "ABCA4_001612" "g.94468037G>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG BP4_m" "SUMMARY record" "" "" "0" "" "" "g.94002481G>A" "" "likely benign" "ACMG"
"0001009877" "0" "50" "1" "94467637" "94467637" "subst" "0" "01695" "ABCA4_001523" "g.94467637C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG BS3_sup, PM2_sup, PP3; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94002081C>T" "" "VUS" "ACMG"
"0001009878" "0" "50" "1" "94467632" "94467632" "subst" "0" "01695" "ABCA4_002462" "g.94467632T>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS3_sup, PM2_sup, PM3_sup, PP3; severity category mild" "SUMMARY record" "" "" "0" "" "" "g.94002076T>A" "" "VUS" "ACMG"
"0001009879" "0" "90" "1" "94467550" "94467550" "subst" "0" "01695" "ABCA4_001277" "g.94467550T>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PM3_sup; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94001994T>A" "" "pathogenic" "ACMG"
"0001009880" "0" "50" "1" "94467548" "94467548" "subst" "0" "01695" "ABCA4_002266" "g.94467548C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PP3; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94001992C>T" "" "VUS" "ACMG"
"0001009881" "0" "50" "1" "94467547" "94467547" "subst" "0" "01695" "ABCA4_001611" "g.94467547A>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PP3; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94001991A>G" "" "VUS" "ACMG"
"0001009882" "0" "90" "1" "94467543" "94467543" "del" "0" "01695" "ABCA4_000955" "g.94467543del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PS4, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94001987del" "" "pathogenic" "ACMG"
"0001009883" "0" "90" "1" "94467537" "94467537" "subst" "0" "01695" "ABCA4_001610" "g.94467537C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94001981C>T" "" "pathogenic" "ACMG"
"0001009884" "0" "90" "1" "94467530" "94467530" "subst" "0" "01695" "ABCA4_001448" "g.94467530T>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PS4, PM3, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94001974T>A" "" "pathogenic" "ACMG"
"0001009885" "0" "50" "1" "94467520" "94467520" "subst" "1.62448E-5" "01695" "ABCA4_001609" "g.94467520C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM5, PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94001964C>T" "" "VUS" "ACMG"
"0001009886" "0" "70" "1" "94467520" "94467520" "subst" "0" "01695" "ABCA4_001608" "g.94467520C>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4, PP3_m; severity category uncertain" "SUMMARY record" "" "" "0" "" "" "g.94001964C>G" "" "likely pathogenic" "ACMG"
"0001009887" "0" "90" "1" "94467515" "94467518" "del" "0" "01695" "ABCA4_001380" "g.94467515_94467518del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PS4, PM3_sup, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94001959_94001962del" "" "pathogenic" "ACMG"
"0001009888" "0" "90" "1" "94467511" "94467514" "del" "0" "01695" "ABCA4_001607" "g.94467511_94467514del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PS4, PM3, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94001955_94001958del" "" "pathogenic" "ACMG"
"0001009889" "0" "90" "1" "94467507" "94467507" "subst" "0" "01695" "ABCA4_001606" "g.94467507G>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PS4, PM3_sup, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94001951G>T" "" "pathogenic" "ACMG"
"0001009890" "0" "70" "1" "94467505" "94467505" "subst" "4.06128E-6" "01695" "ABCA4_000868" "g.94467505G>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4, PM5; severity category moderate/severe" "SUMMARY record" "" "" "0" "" "" "g.94001949G>A" "" "likely pathogenic" "ACMG"
"0001009891" "0" "50" "1" "94467503" "94467503" "subst" "0" "01695" "ABCA4_001605" "g.94467503C>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM3_sup, PP3; severity category mild/moderate" "SUMMARY record" "" "" "0" "" "" "g.94001947C>G" "" "VUS" "ACMG"
"0001009892" "0" "50" "1" "94467502" "94467502" "subst" "0" "01695" "ABCA4_001604" "g.94467502T>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94001946T>A" "" "VUS" "ACMG"
"0001009893" "0" "50" "1" "94467489" "94467489" "subst" "0" "01695" "ABCA4_001603" "g.94467489G>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PP3; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94001933G>A" "" "VUS" "ACMG"
"0001009894" "0" "50" "1" "94467487" "94467488" "delins" "0" "01695" "ABCA4_001602" "g.94467487_94467488delinsTG" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94001931_94001932delinsTG" "" "VUS" "ACMG"
"0001009895" "0" "90" "1" "94467483" "94467483" "subst" "0" "01695" "ABCA4_001601" "g.94467483G>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PM3, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94001927G>C" "" "pathogenic" "ACMG"
"0001009896" "0" "90" "1" "94467481" "94467481" "subst" "0" "01695" "ABCA4_001417" "g.94467481C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4, PM3, PM5, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94001925C>T" "" "pathogenic" "ACMG"
"0001009897" "0" "90" "1" "94467480" "94467480" "subst" "0" "01695" "ABCA4_001600" "g.94467480A>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS1, PM2_sup, PM3_sup, PM5, PP3_m; severity category mild/moderate" "SUMMARY record" "" "" "0" "" "" "g.94001924A>T" "" "pathogenic" "ACMG"
"0001009898" "0" "70" "1" "94467480" "94467480" "subst" "0" "01695" "ABCA4_002461" "g.94467480A>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4, PM5, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94001924A>C" "" "likely pathogenic" "ACMG"
"0001009899" "0" "90" "1" "94467475" "94467475" "subst" "1.62463E-5" "01695" "ABCA4_001599" "g.94467475C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4, PM3, PM5, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94001919C>T" "" "pathogenic" "ACMG"
"0001009900" "0" "50" "1" "94467473" "94467484" "dup" "0" "01695" "ABCA4_001598" "g.94467473_94467484dup" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM4; severity category uncertain" "SUMMARY record" "" "" "0" "" "" "g.94001917_94001928dup" "" "VUS" "ACMG"
"0001009901" "0" "50" "1" "94467470" "94467470" "subst" "0" "01695" "ABCA4_001397" "g.94467470T>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM3_sup, PP3_m; severity category mild/moderate" "SUMMARY record" "" "" "0" "" "" "g.94001914T>C" "" "VUS" "ACMG"
"0001009902" "0" "90" "1" "94467468" "94467468" "del" "0" "01695" "ABCA4_001077" "g.94467468del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94001912del" "" "pathogenic" "ACMG"
"0001009903" "0" "50" "1" "94467464" "94467464" "subst" "0" "01695" "ABCA4_001597" "g.94467464T>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM3, PP3_m; severity category mild/moderate" "SUMMARY record" "" "" "0" "" "" "g.94001908T>C" "" "VUS" "ACMG"
"0001009904" "0" "50" "1" "94467457" "94467457" "subst" "0" "01695" "ABCA4_001596" "g.94467457G>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PP3_m; severity category uncertain" "SUMMARY record" "" "" "0" "" "" "g.94001901G>A" "" "VUS" "ACMG"
"0001009905" "0" "50" "1" "94467451" "94467451" "subst" "0" "01695" "ABCA4_000736" "g.94467451G>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94001895G>A" "" "VUS" "ACMG"
"0001009906" "0" "10" "1" "94467447" "94467447" "subst" "0.0757472" "01695" "ABCA4_000954" "g.94467447G>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG BS1, BP4_m, BP7; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94001891G>A" "" "benign" "ACMG"
"0001009907" "0" "50" "1" "94467446" "94467446" "subst" "1.21856E-5" "01695" "ABCA4_001594" "g.94467446C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94001890C>T" "" "VUS" "ACMG"
"0001009908" "0" "50" "1" "94467446" "94467446" "subst" "0" "01695" "ABCA4_001595" "g.94467446C>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PP3_m; severity category uncertain" "SUMMARY record" "" "" "0" "" "" "g.94001890C>G" "" "VUS" "ACMG"
"0001009909" "0" "50" "1" "94467442" "94467442" "subst" "0" "01695" "ABCA4_001067" "g.94467442A>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94001886A>G" "" "VUS" "ACMG"
"0001009910" "0" "10" "1" "94467441" "94467441" "subst" "0.0033225" "01695" "ABCA4_001203" "g.94467441G>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG BS1, BP4_m, BP7; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94001885G>A" "" "benign" "ACMG"
"0001009911" "0" "50" "1" "94467439" "94467439" "subst" "0" "01695" "ABCA4_001097" "g.94467439A>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94001883A>C" "" "VUS" "ACMG"
"0001009912" "0" "30" "1" "94467426" "94467426" "subst" "8.12691E-6" "01695" "ABCA4_001593" "g.94467426C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, BP4_m, BP7; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94001870C>T" "" "likely benign" "ACMG"
"0001009913" "0" "50" "1" "94467424" "94467424" "subst" "0" "01695" "ABCA4_001592" "g.94467424A>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94001868A>T" "" "VUS" "ACMG"
"0001009914" "0" "70" "1" "94467413" "94467413" "subst" "0" "01695" "ABCA4_001276" "g.94467413C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1_M, PS4, PM3_sup; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94001857C>T" "" "likely pathogenic" "ACMG"
"0001009915" "0" "50" "1" "94467411" "94467411" "subst" "0" "01695" "ABCA4_001162" "g.94467411T>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PP3; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94001855T>A" "" "VUS" "ACMG"
"0001009916" "0" "50" "1" "94466739" "94466739" "subst" "0" "01695" "ABCA4_002460" "g.94466739C>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4, PP3; severity category mild" "SUMMARY record" "" "" "0" "" "" "g.94001183C>A" "" "VUS" "ACMG"
"0001009917" "0" "50" "1" "94466667" "94466667" "subst" "1.22464E-5" "01695" "ABCA4_001591" "g.94466667G>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PP3; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94001111G>T" "" "VUS" "ACMG"
"0001009918" "0" "50" "1" "94466664" "94466664" "subst" "0" "01695" "ABCA4_001590" "g.94466664G>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG BS3_sup, PM2_sup, PP3; severity category mild/moderate" "SUMMARY record" "" "" "0" "" "" "g.94001108G>T" "" "VUS" "ACMG"
"0001009919" "0" "50" "1" "94466664" "94466664" "subst" "0" "01695" "ABCA4_001589" "g.94466664G>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM3, PP3; severity category mild/moderate" "SUMMARY record" "" "" "0" "" "" "g.94001108G>C" "" "VUS" "ACMG"
"0001009920" "0" "70" "1" "94466663" "94466663" "subst" "0" "01695" "ABCA4_001588" "g.94466663T>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94001107T>C" "" "likely pathogenic" "ACMG"
"0001009921" "0" "90" "1" "94466663" "94466664" "delins" "0" "01695" "ABCA4_001048" "g.94466663_94466664delinsCT" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PP3; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94001107_94001108delinsCT" "" "pathogenic" "ACMG"
"0001009922" "0" "50" "1" "94466661" "94466661" "subst" "0" "01695" "ABCA4_001587" "g.94466661C>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM3_sup, PP3_m; severity category mild/moderate" "SUMMARY record" "" "" "0" "" "" "g.94001105C>G" "" "VUS" "ACMG"
"0001009923" "0" "70" "1" "94466660" "94466660" "subst" "4.07594E-6" "01695" "ABCA4_001586" "g.94466660T>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM3, PM5, PP3_m; severity category uncertain" "SUMMARY record" "" "" "0" "" "" "g.94001104T>C" "" "likely pathogenic" "ACMG"
"0001009924" "0" "30" "1" "94466659" "94466659" "subst" "0.155961" "01695" "ABCA4_000953" "g.94466659A>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG BS1, BP4_m" "SUMMARY record" "" "" "0" "" "" "g.94001103A>G" "" "likely benign" "ACMG"
"0001009925" "0" "70" "1" "94466639" "94466639" "subst" "0" "01695" "ABCA4_001096" "g.94466639T>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4, PM5, PP3_m; severity category moderate/severe" "SUMMARY record" "" "" "0" "" "" "g.94001083T>G" "" "likely pathogenic" "ACMG"
"0001009926" "0" "50" "1" "94466639" "94466639" "subst" "0" "01695" "ABCA4_002328" "g.94466639T>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM5, PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94001083T>C" "" "VUS" "ACMG"
"0001009927" "0" "90" "1" "94466638" "94466638" "dup" "0" "01695" "ABCA4_001416" "g.94466638dup" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94001082dup" "" "pathogenic" "ACMG"
"0001009928" "0" "90" "1" "94466638" "94466638" "del" "0" "01695" "ABCA4_001447" "g.94466638del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PM3_sup, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94001082del" "" "pathogenic" "ACMG"
"0001009929" "0" "90" "1" "94466634" "94466634" "subst" "0" "01695" "ABCA4_001585" "g.94466634G>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PM3, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94001078G>A" "" "pathogenic" "ACMG"
"0001009930" "0" "90" "1" "94466637" "94466638" "del" "0" "01695" "ABCA4_002459" "g.94466637_94466638del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94001081_94001082del" "" "pathogenic" "ACMG"
"0001009931" "0" "90" "1" "94466627" "94466627" "subst" "4.06408E-6" "01695" "ABCA4_000867" "g.94466627C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4, PM3_S, PM5, PP3_m; severity category moderate" "SUMMARY record" "" "" "0" "" "" "g.94001071C>T" "" "pathogenic" "ACMG"
"0001009932" "0" "70" "1" "94466623" "94466625" "delins" "0" "01695" "ABCA4_001584" "g.94466623_94466625delinsTTT" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM3, PM4, PM5, PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94001067_94001069delinsTTT" "" "likely pathogenic" "ACMG"
"0001009933" "0" "70" "1" "94466618" "94466618" "subst" "0" "01695" "ABCA4_001415" "g.94466618A>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94001062A>G" "" "likely pathogenic" "ACMG"
"0001009934" "0" "50" "1" "94466616" "94466616" "subst" "0" "01695" "ABCA4_001583" "g.94466616A>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PP3_m; severity category uncertain" "SUMMARY record" "" "" "0" "" "" "g.94001060A>G" "" "VUS" "ACMG"
"0001009935" "0" "50" "1" "94466613" "94466621" "delins" "0" "01695" "ABCA4_002299" "g.94466613_94466621delinsGCC" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM4, PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94001057_94001065delinsGCC" "" "VUS" "ACMG"
"0001009936" "0" "30" "1" "94466611" "94466611" "subst" "5.68722E-5" "01695" "ABCA4_001582" "g.94466611G>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG BP4_m, BP7; severity category uncertain" "SUMMARY record" "" "" "0" "" "" "g.94001055G>A" "" "likely benign" "ACMG"
"0001009937" "0" "50" "1" "94466610" "94466610" "subst" "4.0623E-6" "01695" "ABCA4_001581" "g.94466610C>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, BP4; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94001054C>G" "" "VUS" "ACMG"
"0001009938" "0" "50" "1" "94466604" "94466604" "subst" "0.000166548" "01695" "ABCA4_001095" "g.94466604C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PP3; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94001048C>T" "" "VUS" "ACMG"
"0001009939" "0" "90" "1" "94466589" "94466589" "del" "0" "01695" "ABCA4_001580" "g.94466589del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PM3, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94001033del" "" "pathogenic" "ACMG"
"0001009940" "0" "50" "1" "94466564" "94466564" "subst" "0" "01695" "ABCA4_001579" "g.94466564G>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94001008G>A" "" "VUS" "ACMG"
"0001009941" "0" "50" "1" "94466558" "94466558" "subst" "0" "01695" "ABCA4_001011" "g.94466558C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PP3; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94001002C>T" "" "VUS" "ACMG"
"0001009942" "0" "50" "1" "94466555" "94466555" "subst" "0" "01695" "ABCA4_002458" "g.94466555T>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS3_sup, PM2_sup, PM3_sup, PP3; severity category moderate" "SUMMARY record" "" "" "0" "" "" "g.94000999T>C" "" "VUS" "ACMG"
"0001009943" "0" "50" "1" "94466485" "94466485" "subst" "0" "01695" "ABCA4_001578" "g.94466485C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1_S, PM2_sup; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94000929C>T" "" "VUS" "ACMG"
"0001009944" "0" "90" "1" "94466477" "94466477" "subst" "0" "01695" "ABCA4_001577" "g.94466477C>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94000921C>A" "" "pathogenic" "ACMG"
"0001009945" "0" "70" "1" "94466474" "94466474" "subst" "0" "01695" "ABCA4_001202" "g.94466474A>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94000918A>G" "" "likely pathogenic" "ACMG"
"0001009946" "0" "30" "1" "94466465" "94466465" "subst" "0" "01695" "ABCA4_001576" "g.94466465G>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, BP4_m, BP7; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94000909G>A" "" "likely benign" "ACMG"
"0001009947" "0" "50" "1" "94466443" "94466443" "subst" "0" "01695" "ABCA4_002298" "g.94466443A>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94000887A>T" "" "VUS" "ACMG"
"0001009948" "0" "50" "1" "94466443" "94466443" "subst" "0" "01695" "ABCA4_001275" "g.94466443A>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94000887A>C" "" "VUS" "ACMG"
"0001009949" "0" "50" "1" "94466434" "94466434" "subst" "0" "01695" "ABCA4_001574" "g.94466434C>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM5, PP3_m; severity category uncertain" "SUMMARY record" "" "" "0" "" "" "g.94000878C>A" "" "VUS" "ACMG"
"0001009950" "0" "90" "1" "94466434" "94466435" "ins" "0" "01695" "ABCA4_001575" "g.94466434_94466435insA" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PS4, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.94000878_94000879insA" "" "pathogenic" "ACMG"
"0001009951" "0" "50" "1" "94466417" "94466417" "subst" "0" "01695" "ABCA4_001573" "g.94466417C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM5, PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94000861C>T" "" "VUS" "ACMG"
"0001009952" "0" "50" "1" "94466417" "94466417" "subst" "0" "01695" "ABCA4_002320" "g.94466417C>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM5, PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94000861C>G" "" "VUS" "ACMG"
"0001009953" "0" "70" "1" "94466417" "94466417" "subst" "0" "01695" "ABCA4_001200" "g.94466417C>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4, PP3_m; severity category moderate/severe" "SUMMARY record" "" "" "0" "" "" "g.94000861C>A" "" "likely pathogenic" "ACMG"
"0001009954" "0" "70" "1" "94466416" "94466416" "subst" "0" "01695" "ABCA4_001572" "g.94466416C>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM3, PM5, PP3_m; severity category mild/moderate" "SUMMARY record" "" "" "0" "" "" "g.94000860C>A" "" "likely pathogenic" "ACMG"
"0001009955" "0" "50" "1" "94466399" "94466399" "subst" "0" "01695" "ABCA4_002457" "g.94466399T>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM3_sup, PP3_m; severity category uncertain" "SUMMARY record" "" "" "0" "" "" "g.94000843T>C" "" "VUS" "ACMG"
"0001009956" "0" "30" "1" "94466363" "94466363" "subst" "8.52986E-5" "01695" "ABCA4_001529" "g.94466363A>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG BP4_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94000807A>G" "" "likely benign" "ACMG"
"0001009957" "0" "30" "1" "94463669" "94463669" "subst" "0" "01695" "ABCA4_002319" "g.94463669A>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, BP4_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.93998113A>G" "" "likely benign" "ACMG"
"0001009958" "0" "90" "1" "94463667" "94463667" "subst" "0" "01695" "ABCA4_001371" "g.94463667C>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PS4, PM3; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.93998111C>A" "" "pathogenic" "ACMG"
"0001009959" "0" "50" "1" "94463648" "94463648" "subst" "0.000162447" "01695" "ABCA4_001373" "g.94463648G>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "severity category benign" "SUMMARY record" "" "" "0" "" "" "g.93998092G>C" "" "VUS" "ACMG"
"0001009960" "0" "30" "1" "94463648" "94463648" "subst" "0.00109246" "01695" "ABCA4_000876" "g.94463648G>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG BP4_m, BP7; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.93998092G>A" "" "likely benign" "ACMG"
"0001009961" "0" "90" "1" "94463610" "94463610" "del" "0" "01695" "ABCA4_001571" "g.94463610del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.93998054del" "" "pathogenic" "ACMG"
"0001009962" "0" "90" "1" "94463579" "94463579" "del" "0" "01695" "ABCA4_002344" "g.94463579del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.93998023del" "" "pathogenic" "ACMG"
"0001009963" "0" "90" "1" "94463554" "94463554" "subst" "0" "01695" "ABCA4_001485" "g.94463554G>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PS4, PM3, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.93997998G>A" "" "pathogenic" "ACMG"
"0001009964" "0" "50" "1" "94463529" "94463529" "subst" "0" "01695" "ABCA4_002456" "g.94463529A>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM3_sup, PP3_m; severity category mild/moderate" "SUMMARY record" "" "" "0" "" "" "g.93997973A>T" "" "VUS" "ACMG"
"0001009965" "0" "90" "1" "94463527" "94463527" "subst" "0" "01695" "ABCA4_001570" "g.94463527G>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PM3_sup, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.93997971G>A" "" "pathogenic" "ACMG"
"0001009966" "0" "90" "1" "94463521" "94463521" "subst" "0" "01695" "ABCA4_001272" "g.94463521G>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PM3_sup, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.93997965G>A" "" "pathogenic" "ACMG"
"0001009967" "0" "90" "1" "94463512" "94463513" "ins" "0" "01695" "ABCA4_001569" "g.94463512_94463513insCTGGAAGATCCTCGCCAGGGAGGAGGAG" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PM3_sup, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.93997956_93997957insCTGGAAGATCCTCGCCAGGGAGGAGGAG" "" "pathogenic" "ACMG"
"0001009968" "0" "70" "1" "94463499" "94463499" "subst" "1.21857E-5" "01695" "ABCA4_001568" "g.94463499G>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4, PM3_sup, PP3; causative variant of unknown severity" "SUMMARY record" "" "" "0" "" "" "g.93997943G>A" "" "likely pathogenic" "ACMG"
"0001009969" "0" "90" "1" "94463480" "94463480" "dup" "0" "01695" "ABCA4_002327" "g.94463480dup" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.93997924dup" "" "pathogenic" "ACMG"
"0001009970" "0" "70" "1" "94463476" "94468246" "del" "0" "01695" "ABCA4_001567" "g.94463476_94468246del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.93997920_94002690del" "" "likely pathogenic" "ACMG"
"0001009971" "0" "90" "1" "94463458" "94463458" "del" "0" "01695" "ABCA4_001566" "g.94463458del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PS4, PM3, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.93997902del" "" "pathogenic" "ACMG"
"0001009972" "0" "90" "1" "94463453" "94463453" "del" "0" "01695" "ABCA4_001565" "g.94463453del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PS4, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.93997897del" "" "pathogenic" "ACMG"
"0001009973" "0" "50" "1" "94463452" "94463452" "subst" "9.34412E-5" "01695" "ABCA4_000870" "g.94463452C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PP3; severity category uncertain" "SUMMARY record" "" "" "0" "" "" "g.93997896C>T" "" "VUS" "ACMG"
"0001009974" "0" "90" "1" "94463452" "94463452" "subst" "0" "01695" "ABCA4_001274" "g.94463452C>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PM3_sup, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.93997896C>A" "" "pathogenic" "ACMG"
"0001009975" "0" "70" "1" "94463448" "94463448" "subst" "0" "01695" "ABCA4_001564" "g.94463448T>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4, PM3, PP3_m; causative variant of unknown severity" "SUMMARY record" "" "" "0" "" "" "g.93997892T>A" "" "likely pathogenic" "ACMG"
"0001009976" "0" "90" "1" "94463442" "94463442" "subst" "0" "01695" "ABCA4_001199" "g.94463442G>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PS4, PM3, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.93997886G>C" "" "pathogenic" "ACMG"
"0001009977" "0" "50" "1" "94463433" "94463433" "subst" "0" "01695" "ABCA4_001563" "g.94463433T>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.93997877T>C" "" "VUS" "ACMG"
"0001009978" "0" "70" "1" "94473297" "94473297" "subst" "0" "01695" "ABCA4_002392" "g.94473297C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.94007741C>T" "" "likely pathogenic" "ACMG"
"0001009979" "0" "70" "1" "94463424" "94463424" "subst" "0" "01695" "ABCA4_001562" "g.94463424A>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4, PM3_sup, PM5, PP3_m; causative variant of unknown severity" "SUMMARY record" "" "" "0" "" "" "g.93997868A>G" "" "likely pathogenic" "ACMG"
"0001009980" "0" "30" "1" "94463396" "94463396" "subst" "0.00599713" "01695" "ABCA4_000139" "g.94463396G>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG BS1, BP4_m" "SUMMARY record" "" "" "0" "" "" "g.93997840G>A" "" "likely benign" "ACMG"
"0001009981" "0" "30" "1" "94461770" "94461770" "subst" "0.000816533" "01695" "ABCA4_000952" "g.94461770C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG BP4_m" "SUMMARY record" "" "" "0" "" "" "g.93996214C>T" "" "likely benign" "ACMG"
"0001009982" "0" "30" "1" "94461754" "94461754" "subst" "0.0642229" "01695" "ABCA4_000951" "g.94461754A>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG BS1, BP4_m" "SUMMARY record" "" "" "0" "" "" "g.93996198A>G" "" "likely benign" "ACMG"
"0001009983" "0" "50" "1" "94461750" "94461750" "subst" "0" "01695" "ABCA4_002297" "g.94461750A>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.93996194A>T" "" "VUS" "ACMG"
"0001009984" "0" "30" "1" "94461749" "94461749" "subst" "0.00632561" "01695" "ABCA4_001198" "g.94461749C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG BS1, BP4_m" "SUMMARY record" "" "" "0" "" "" "g.93996193C>T" "" "likely benign" "ACMG"
"0001009985" "0" "50" "1" "94461738" "94461738" "subst" "0" "01695" "ABCA4_001522" "g.94461738A>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PP3_m; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.93996182A>G" "" "VUS" "ACMG"
"0001009986" "0" "70" "1" "94461735" "94461735" "subst" "0" "01695" "ABCA4_001414" "g.94461735G>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4, PP3_m; severity category moderate/severe" "SUMMARY record" "" "" "0" "" "" "g.93996179G>T" "" "likely pathogenic" "ACMG"
"0001009987" "0" "50" "1" "94461733" "94461733" "subst" "8.12995E-6" "01695" "ABCA4_001561" "g.94461733T>C" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PP3; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.93996177T>C" "" "VUS" "ACMG"
"0001009988" "0" "50" "1" "94461717" "94461761" "dup" "0" "01695" "ABCA4_001560" "g.94461717_94461761dup" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM3, PP3_m; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.93996161_93996205dup" "" "VUS" "ACMG"
"0001009989" "0" "50" "1" "94461709" "94461709" "subst" "4.06474E-6" "01695" "ABCA4_001094" "g.94461709G>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, BP4; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.93996153G>A" "" "VUS" "ACMG"
"0001009990" "0" "50" "1" "94461693" "94461693" "subst" "4.0655E-6" "01695" "ABCA4_002455" "g.94461693C>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.93996137C>G" "" "VUS" "ACMG"
"0001009991" "0" "30" "1" "94461675" "94461675" "subst" "3.25388E-5" "01695" "ABCA4_000875" "g.94461675C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG BP4; severity category not assesed" "SUMMARY record" "" "" "0" "" "" "g.93996119C>T" "" "likely benign" "ACMG"
"0001009992" "0" "90" "1" "94461664" "94461664" "subst" "4.06841E-6" "01695" "ABCA4_001559" "g.94461664C>A" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1_S, PS4, PM3_S; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.93996108C>A" "" "pathogenic" "ACMG"
"0001009993" "0" "70" "1" "94461663" "94461663" "subst" "0" "01695" "ABCA4_001558" "g.94461663A>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1_S, PM2_sup, PM3_sup; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.93996107A>T" "" "likely pathogenic" "ACMG"
"0001009994" "0" "70" "1" "94458800" "94458800" "subst" "0" "01695" "ABCA4_001557" "g.94458800T>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1_M, PS4, PM3; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.93993244T>G" "" "likely pathogenic" "ACMG"
"0001009995" "0" "50" "1" "94458795" "94458795" "subst" "0" "01695" "ABCA4_001556" "g.94458795A>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PS4, PP3; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.93993239A>T" "" "VUS" "ACMG"
"0001009996" "0" "90" "1" "94458794" "94476818" "del" "0" "01695" "ABCA4_001555" "g.94458794_94476818del" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PVS1, PM2_sup, PM3; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.93993238_94011262del" "" "pathogenic" "ACMG"
"0001009997" "0" "50" "1" "94458793" "94458793" "subst" "0" "01695" "ABCA4_001554" "g.94458793T>G" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PP3; severity category severe" "SUMMARY record" "" "" "0" "" "" "g.93993237T>G" "" "VUS" "ACMG"
"0001009998" "0" "50" "1" "94458783" "94458783" "subst" "0.00174189" "01695" "ABCA4_000874" "g.94458783G>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM3, PP3_m; severity category mild/moderate" "SUMMARY record" "" "" "0" "" "" "g.93993227G>T" "" "VUS" "ACMG"
"0001009999" "0" "50" "1" "94458738" "94458738" "subst" "0" "01695" "ABCA4_001553" "g.94458738C>T" "" "{DOI:Cornelis 2023:10.1155/2023/6815504}" "" "" "ACMG PM2_sup, PM3_sup, PP3_m; severity category benign" "SUMMARY record" "" "" "0" "" "" "g.93993182C>T" "" "VUS" "ACMG"
"0001010043" "1" "90" "1" "94520830" "94520830" "subst" "0" "00006" "ABCA4_000727" "g.94520830G>C" "" "{PMID:Liu-2020:33090715}" "" "CRB1:c.2424C>G (Tyr808*)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0001010044" "2" "90" "1" "94526194" "94526194" "dup" "0" "00006" "ABCA4_001308" "g.94526194dup" "" "{PMID:Liu-2020:33090715}" "" "CRB1:c.2063dupA (Asn688Lysfs*78)" "" "Germline" "" "" "0" "" "" "g.94060638dup" "" "pathogenic (recessive)" ""
"0001013354" "0" "50" "1" "94463542" "94463542" "subst" "0" "02327" "ABCA4_002906" "g.94463542G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001013355" "0" "50" "1" "94476823" "94476823" "subst" "3.65788E-5" "02327" "ABCA4_002907" "g.94476823C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001013356" "0" "90" "1" "94481294" "94481294" "subst" "0" "02330" "ABCA4_000110" "g.94481294C>T" "" "" "" "ABCA4(NM_000350.3):c.5312+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0001013357" "0" "50" "1" "94510220" "94510220" "subst" "2.43639E-5" "02327" "ABCA4_002908" "g.94510220G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001013358" "0" "30" "1" "94520884" "94520884" "subst" "0.000302547" "02330" "ABCA4_002899" "g.94520884G>A" "" "" "" "ABCA4(NM_000350.3):c.2383-13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001013359" "0" "70" "1" "94528272" "94528272" "subst" "4.06984E-6" "02327" "ABCA4_000999" "g.94528272C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0001013360" "0" "70" "1" "94543278" "94543278" "subst" "0.000178952" "02327" "ABCA4_000004" "g.94543278G>A" "" "" "" "ABCA4(NM_000350.2):c.1522C>T (p.R508C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0001022249" "1" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "00006" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Midgley 2024:39676705}" "" "" "" "Germline" "" "rs61749409" "0" "" "" "g.94062710G>A" "" "pathogenic" ""
"0001022251" "3" "90" "1" "94490510" "94490510" "del" "0" "00006" "ABCA4_001457" "g.94490510del" "" "{PMID:Midgley 2024:39676705}" "" "4634+1delG" "" "Germline" "" "" "0" "" "" "g.94024954del" "" "pathogenic" ""
"0001022253" "3" "90" "1" "94490510" "94490510" "del" "0" "00006" "ABCA4_001457" "g.94490510del" "" "{PMID:Midgley 2024:39676705}" "" "4634+1delG" "" "Germline" "" "" "0" "" "" "g.94024954del" "" "pathogenic" ""
"0001022254" "1" "90" "1" "94543269" "94543269" "subst" "0.000179087" "00006" "ABCA4_000307" "g.94543269G>A" "" "{PMID:Midgley 2024:39676705}" "" "" "" "Germline" "" "rs752786160" "0" "" "" "g.94077713G>A" "" "pathogenic" ""
"0001022263" "1" "90" "1" "94495071" "94495071" "subst" "6.39479E-5" "00006" "ABCA4_000997" "g.94495071C>T" "" "{PMID:Midgley 2024:39676705}" "" "" "" "Germline" "" "rs61751402" "0" "" "" "g.94029515C>T" "" "pathogenic" ""
"0001022266" "1" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "00006" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Midgley 2024:39676705}" "" "" "" "Germline" "" "rs61749409" "0" "" "" "g.94062710G>A" "" "pathogenic" ""
"0001022284" "3" "70" "1" "94546090" "94546090" "subst" "0" "00006" "ABCA4_001511" "g.94546090A>C" "" "{PMID:Midgley 2024:39676705}" "" "" "" "Germline" "" "" "0" "" "" "g.94080534A>C" "" "likely pathogenic" ""
"0001022286" "1" "90" "1" "94564350" "94564350" "subst" "9.34268E-5" "00006" "ABCA4_000045" "g.94564350C>A" "" "{PMID:Midgley 2024:39676705}" "" "" "" "Germline" "" "rs62645944" "0" "" "" "g.94098794C>A" "" "pathogenic" ""
"0001022287" "1" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "00006" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Midgley 2024:39676705}" "" "" "" "Germline" "" "rs61749409" "0" "" "" "g.94062710G>A" "" "pathogenic" ""
"0001022288" "1" "90" "1" "94471065" "94471065" "subst" "0.000194997" "00006" "ABCA4_000384" "g.94471065G>A" "" "{PMID:Midgley 2024:39676705}" "" "" "" "Germline" "" "rs61751408" "0" "" "" "g.94005509G>A" "" "pathogenic" ""
"0001022289" "1" "90" "1" "94473807" "94473807" "subst" "0.00480453" "00006" "ABCA4_000046" "g.94473807C>T" "" "{PMID:Midgley 2024:39676705}" "" "" "" "Germline" "" "rs1800553" "0" "" "" "g.94008251C>T" "" "pathogenic" ""
"0001022290" "1" "90" "1" "94490510" "94490510" "del" "0" "00006" "ABCA4_001457" "g.94490510del" "" "{PMID:Midgley 2024:39676705}" "" "4634+1delG" "" "Germline" "" "" "0" "" "" "g.94024954del" "" "pathogenic" ""
"0001022303" "1" "90" "1" "94490510" "94490510" "del" "0" "00006" "ABCA4_001457" "g.94490510del" "" "{PMID:Midgley 2024:39676705}" "" "4634+1delG" "" "Germline" "" "" "0" "" "" "g.94024954del" "" "pathogenic" ""
"0001022304" "1" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "00006" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Midgley 2024:39676705}" "" "" "" "Germline" "" "rs61749409" "0" "" "" "g.94062710G>A" "" "pathogenic" ""
"0001022309" "1" "70" "1" "94463529" "94463529" "subst" "0" "00006" "ABCA4_002456" "g.94463529A>T" "" "{PMID:Midgley 2024:39676705}" "" "" "" "Germline" "" "" "0" "" "" "g.93997973A>T" "" "likely pathogenic" ""
"0001022319" "1" "90" "1" "94476467" "94476467" "subst" "0.0424562" "00006" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Midgley 2024:39676705}" "" "" "" "Germline" "" "rs1801466" "0" "" "" "g.94010911T>A" "" "pathogenic" ""
"0001022322" "1" "90" "1" "94466624" "94466624" "subst" "0.0014345" "00006" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Midgley 2024:39676705}" "" "" "" "Germline" "" "rs62642564" "0" "" "" "g.94001068C>T" "" "pathogenic" ""
"0001022323" "1" "90" "1" "94528266" "94528266" "subst" "4.477E-5" "00006" "ABCA4_000117" "g.94528266G>A" "" "{PMID:Midgley 2024:39676705}" "" "" "" "Germline" "" "rs61749409" "0" "" "" "g.94062710G>A" "" "pathogenic" ""
"0001022324" "2" "70" "1" "94548906" "94548906" "subst" "0" "00006" "ABCA4_002909" "g.94548906A>G" "" "{PMID:Midgley 2024:39676705}" "" "" "" "Germline" "" "" "0" "" "" "g.94083350A>G" "" "likely pathogenic" ""
"0001022326" "2" "90" "1" "94568687" "94568687" "subst" "1.62641E-5" "00006" "ABCA4_000024" "g.94568687G>A" "" "{PMID:Midgley 2024:39676705}" "" "" "" "Germline" "" "rs62646861" "0" "" "" "g.94103131G>A" "" "pathogenic" ""
"0001022329" "1" "90" "1" "94476467" "94476467" "subst" "0.0424562" "00006" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Midgley 2024:39676705}" "" "" "" "Germline" "" "rs1801466" "0" "" "" "g.94010911T>A" "" "pathogenic" ""
"0001022330" "2" "90" "1" "94493000" "94493000" "subst" "0" "00006" "ABCA4_000015" "g.94493000C>T" "" "{PMID:Midgley 2024:39676705}" "" "" "" "Germline" "" "rs1457937638" "0" "" "" "g.94027444C>T" "" "pathogenic" ""
"0001022331" "2" "90" "1" "94476351" "94476351" "subst" "0.000296608" "00006" "ABCA4_000996" "g.94476351C>T" "" "{PMID:Midgley 2024:39676705}" "" "" "" "Germline" "" "rs61751407" "0" "" "" "g.94010795C>T" "" "pathogenic" ""
"0001022338" "2" "90" "1" "94471037" "94471037" "subst" "0" "00006" "ABCA4_001062" "g.94471037T>C" "" "{PMID:Midgley 2024:39676705}" "" "" "" "Germline" "" "rs878853398" "0" "" "" "g.94005481T>C" "" "pathogenic" ""
"0001022339" "2" "90" "1" "94526212" "94526212" "subst" "1.22012E-5" "00006" "ABCA4_000075" "g.94526212G>A" "" "{PMID:Midgley 2024:39676705}" "" "" "" "Germline" "" "rs61749423" "0" "" "" "g.94060656G>A" "" "pathogenic" ""
"0001022340" "2" "90" "1" "94512499" "94512499" "subst" "0.000130029" "00006" "ABCA4_000072" "g.94512499T>C" "" "{PMID:Midgley 2024:39676705}" "" "" "" "Germline" "" "rs201471607" "0" "" "" "g.94046943T>C" "" "pathogenic" ""
"0001022341" "0" "90" "1" "94476467" "94476467" "subst" "0.0424562" "00006" "ABCA4_000007" "g.94476467T>A" "" "{PMID:Midgley 2024:39676705}" "" "" "" "Germline" "" "rs1801466" "0" "" "" "g.94010911T>A" "" "pathogenic" ""
"0001022342" "0" "90" "1" "94476951" "94476951" "subst" "0.000236097" "00006" "ABCA4_000025" "g.94476951A>G" "" "{PMID:Midgley 2024:39676705}" "" "" "" "Germline" "" "rs1800728" "0" "" "" "g.94011395A>G" "" "pathogenic" ""
"0001022343" "2" "90" "1" "94466624" "94466624" "subst" "0.0014345" "00006" "ABCA4_000093" "g.94466624C>T" "" "{PMID:Midgley 2024:39676705}" "" "" "" "Germline" "" "rs62642564" "0" "" "" "g.94001068C>T" "" "pathogenic" ""
"0001022349" "2" "70" "1" "94463529" "94463529" "subst" "0" "00006" "ABCA4_002456" "g.94463529A>T" "" "{PMID:Midgley 2024:39676705}" "" "" "" "Germline" "" "" "0" "" "" "g.93997973A>T" "" "likely pathogenic" ""
"0001022350" "2" "90" "1" "94568687" "94568687" "subst" "1.62641E-5" "00006" "ABCA4_000024" "g.94568687G>A" "" "{PMID:Midgley 2024:39676705}" "" "" "" "Germline" "" "rs62646861" "0" "" "" "g.94103131G>A" "" "pathogenic" ""
"0001022352" "2" "90" "1" "94490510" "94490510" "del" "0" "00006" "ABCA4_001457" "g.94490510del" "" "{PMID:Midgley 2024:39676705}" "" "4634+1delG" "" "Germline" "" "" "0" "" "" "g.94024954del" "" "pathogenic" ""
"0001022356" "0" "90" "1" "94495071" "94495071" "subst" "6.39479E-5" "00006" "ABCA4_000997" "g.94495071C>T" "" "{PMID:Midgley 2024:39676705}" "" "" "" "Germline" "" "rs61751402" "0" "" "" "g.94029515C>T" "" "pathogenic" ""
"0001022357" "0" "90" "1" "94568687" "94568687" "subst" "1.62641E-5" "00006" "ABCA4_000024" "g.94568687G>A" "" "{PMID:Midgley 2024:39676705}" "" "" "" "Germline" "" "rs62646861" "0" "" "" "g.94103131G>A" "" "pathogenic" ""
"0001022358" "2" "90" "1" "94577093" "94577093" "subst" "8.12394E-6" "00006" "ABCA4_000147" "g.94577093G>A" "" "{PMID:Midgley 2024:39676705}" "" "" "" "Germline" "" "rs62654397" "0" "" "" "g.94111537G>A" "" "pathogenic" ""
"0001022359" "2" "90" "1" "94493000" "94493000" "subst" "0" "00006" "ABCA4_000015" "g.94493000C>T" "" "{PMID:Midgley 2024:39676705}" "" "" "" "Germline" "" "rs1457937638" "0" "" "" "g.94027444C>T" "" "pathogenic" ""
"0001024211" "0" "50" "1" "94466643" "94466643" "subst" "0" "02325" "ABCA4_002910" "g.94466643T>A" "" "" "" "ABCA4(NM_000350.3):c.6301A>T (p.M2101L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001024212" "0" "90" "1" "94471055" "94471055" "subst" "0.00035346" "02330" "ABCA4_000029" "g.94471055C>T" "" "" "" "ABCA4(NM_000350.2):c.6089G>A (p.R2030Q), ABCA4(NM_000350.3):c.6089G>A (p.R2030Q, p.(Arg2030Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0001024213" "0" "90" "1" "94473808" "94473808" "subst" "8.52861E-5" "02327" "ABCA4_000196" "g.94473808C>T" "" "" "" "ABCA4(NM_000350.3):c.5881G>A (p.G1961R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0001024214" "0" "90" "1" "94487251" "94487251" "subst" "2.85679E-5" "02329" "ABCA4_000490" "g.94487251G>T" "" "" "" "ABCA4(NM_000350.2):c.4793C>A (p.A1598D), ABCA4(NM_000350.3):c.4793C>A (p.A1598D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0001024215" "0" "30" "1" "94493680" "94493680" "subst" "0" "02330" "ABCA4_001459" "g.94493680T>C" "" "" "" "ABCA4(NM_000350.3):c.4539+1321A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001024216" "0" "90" "1" "94495083" "94495083" "subst" "0.000124542" "02329" "ABCA4_000542" "g.94495083G>A" "" "" "" "ABCA4(NM_000350.3):c.4457C>T (p.P1486L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0001024217" "0" "90" "1" "94508455" "94508455" "subst" "0" "02327" "ABCA4_002911" "g.94508455C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0001024218" "0" "50" "1" "94528248" "94528248" "subst" "1.22148E-5" "01943" "ABCA4_000279" "g.94528248A>T" "" "" "" "ABCA4(NM_000350.2):c.1822T>A (p.F608I), ABCA4(NM_000350.3):c.1822T>A (p.F608I, p.(Phe608Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001024219" "0" "90" "1" "94528819" "94528819" "subst" "2.03128E-5" "02327" "ABCA4_000078" "g.94528819G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0001024220" "0" "30" "1" "94544944" "94544944" "subst" "0" "02327" "ABCA4_002912" "g.94544944C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001024221" "0" "70" "1" "94564430" "94564430" "subst" "0" "02327" "ABCA4_000376" "g.94564430A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0001024222" "0" "70" "1" "94564460" "94564460" "subst" "8.1355E-6" "02330" "ABCA4_000056" "g.94564460G>A" "" "" "" "ABCA4(NM_000350.3):c.658C>T (p.R220C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0001030945" "3" "90" "1" "94466554" "94466554" "subst" "0" "04839" "ABCA4_002913" "g.94466554A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.94000998A>G" "SCV004174835.2" "likely pathogenic (recessive)" "ACMG"
"0001032235" "0" "50" "1" "94466432" "94466432" "subst" "1.21825E-5" "01804" "ABCA4_002914" "g.94466432C>T" "" "" "" "ABCA4(NM_000350.3):c.6439G>A (p.(Ala2147Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001032237" "0" "70" "1" "94473808" "94473808" "subst" "8.52861E-5" "02330" "ABCA4_000196" "g.94473808C>T" "" "" "" "ABCA4(NM_000350.3):c.5881G>A (p.G1961R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0001032238" "0" "50" "1" "94485278" "94485278" "subst" "0.000487317" "01804" "ABCA4_000101" "g.94485278C>T" "" "" "" "ABCA4(NM_000350.3):c.5056G>A (p.V1686M, p.(Val1686Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001032239" "0" "70" "1" "94487436" "94487436" "subst" "2.03047E-5" "02325" "ABCA4_000498" "g.94487436A>G" "" "" "" "ABCA4(NM_000350.3):c.4739T>C (p.L1580S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0001032240" "0" "50" "1" "94487490" "94487490" "subst" "0.00122268" "01804" "ABCA4_000506" "g.94487490A>G" "" "" "" "ABCA4(NM_000350.2):c.4685T>C (p.I1562T), ABCA4(NM_000350.3):c.4685T>C (p.I1562T, p.(Ile1562Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001032241" "0" "50" "1" "94496509" "94496509" "subst" "0.00475243" "01804" "ABCA4_001024" "g.94496509C>T" "" "" "" "ABCA4(NM_000350.3):c.4253+43G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001032242" "0" "50" "1" "94506871" "94506871" "subst" "7.30964E-5" "01804" "ABCA4_000103" "g.94506871T>C" "" "" "" "ABCA4(NM_000350.3):c.3416A>G (p.(Tyr1139Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001032243" "0" "70" "1" "94508366" "94508366" "subst" "0" "02327" "ABCA4_000638" "g.94508366G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0001032244" "0" "50" "1" "94520781" "94520781" "subst" "8.53867E-5" "01804" "ABCA4_001377" "g.94520781C>T" "" "" "" "ABCA4(NM_000350.3):c.2473G>A (p.(Gly825Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001032245" "0" "50" "1" "94564522" "94564522" "subst" "0.000157718" "01804" "ABCA4_002193" "g.94564522G>A" "" "" "" "ABCA4(NM_000350.3):c.596C>T (p.(Ala199Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001045704" "0" "90" "1" "94506901" "94506901" "subst" "0.000308665" "02327" "ABCA4_000054" "g.94506901C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0001045705" "0" "90" "1" "94520844" "94520845" "del" "0" "02327" "ABCA4_002030" "g.94520844_94520845del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0001049837" "1" "90" "1" "94484001" "94484001" "subst" "0" "00006" "ABCA4_000016" "g.94484001C>T" "" "{PMID:Hussain 2023:36833373}" "" "" "" "Germline" "" "" "0" "" "" "g.94018445C>T" "" "pathogenic (recessive)" ""
"0001049842" "2" "90" "1" "94531618" "94531618" "subst" "0" "00006" "ABCA4_002111" "g.94531618T>C" "" "{PMID:Hussain 2023:36833373}" "" "" "" "Germline" "" "" "0" "" "" "g.94066062T>C" "" "pathogenic (recessive)" ""
"0001050155" "0" "90" "1" "94471055" "94471055" "subst" "0.00035346" "01804" "ABCA4_000029" "g.94471055C>T" "" "" "" "ABCA4(NM_000350.2):c.6089G>A (p.R2030Q), ABCA4(NM_000350.3):c.6089G>A (p.R2030Q, p.(Arg2030Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0001050156" "0" "50" "1" "94495123" "94495123" "subst" "0.000117967" "01804" "ABCA4_000544" "g.94495123G>T" "" "" "" "ABCA4(NM_000350.3):c.4417C>A (p.L1473M, p.(Leu1473Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001050157" "0" "50" "1" "94506878" "94506878" "subst" "4.06081E-6" "01804" "ABCA4_001901" "g.94506878T>C" "" "" "" "ABCA4(NM_000350.3):c.3409A>G (p.(Arg1137Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001050158" "0" "10" "1" "94509045" "94509045" "subst" "0.00234728" "02327" "ABCA4_001958" "g.94509045A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0001050159" "0" "70" "1" "94577132" "94577132" "subst" "0" "02327" "ABCA4_000239" "g.94577132T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
## Variants_On_Transcripts ## Do not remove or alter this header ##
## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene.
## Note: Only showing Variants_On_Transcript columns active for Genes ABCA4
## Count = 36112
"{{id}}" "{{transcriptid}}" "{{effectid}}" "{{position_c_start}}" "{{position_c_start_intron}}" "{{position_c_end}}" "{{position_c_end_intron}}" "{{VariantOnTranscript/DNA}}" "{{VariantOnTranscript/RNA}}" "{{VariantOnTranscript/Protein}}" "{{VariantOnTranscript/Exon}}"
"0000019491" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000019492" "00001847" "90" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" "31"
"0000019493" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000019494" "00001847" "90" "658" "0" "658" "0" "c.658C>T" "r.(?)" "p.(Arg220Cys)" "6"
"0000019518" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.spl?" "p.(Gly863Ala)" "17"
"0000019519" "00001847" "70" "4532" "0" "4532" "0" "c.4532C>G" "r.(?)" "p.(Pro1511Arg)" "30"
"0000036424" "00001847" "70" "6088" "0" "6088" "0" "c.6088C>T" "r.(?)" "p.(Arg2030*)" "44"
"0000036435" "00001847" "90" "3328" "1" "3328" "1" "c.3328+1G>C" "r.spl?" "p.?" "22i"
"0000036436" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000036729" "00001847" "50" "2791" "0" "2791" "0" "c.2791G>A" "r.(?)" "p.(Val931Met)" "19"
"0000036730" "00001847" "50" "184" "0" "184" "0" "c.184C>T" "r.(?)" "p.(Pro62Ser)" "3"
"0000036731" "00001847" "50" "1927" "0" "1927" "0" "c.1927G>A" "r.(?)" "p.(Val643Met)" "13"
"0000036732" "00001847" "50" "3602" "0" "3602" "0" "c.3602T>G" "r.(?)" "p.(Leu1201Arg)" "24"
"0000036733" "00001847" "50" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000036734" "00001847" "50" "658" "0" "658" "0" "c.658C>T" "r.(?)" "p.(Arg220Cys)" "6"
"0000036735" "00001847" "50" "1927" "0" "1927" "0" "c.1927G>A" "r.(?)" "p.(Val643Met)" "13"
"0000036736" "00001847" "50" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000036737" "00001847" "50" "3602" "0" "3602" "0" "c.3602T>G" "r.(?)" "p.(Leu1201Arg)" "24"
"0000036738" "00001847" "50" "1208" "0" "1208" "0" "c.1208A>T" "r.(?)" "p.(Asp403Val)" "9"
"0000036739" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000036740" "00001847" "50" "4223" "0" "4223" "0" "c.4223G>T" "r.(?)" "p.(Trp1408Leu)" "28"
"0000036741" "00001847" "50" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000036742" "00001847" "50" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000036743" "00001847" "50" "926" "0" "926" "0" "c.926C>G" "r.(?)" "p.(Pro309Arg)" "8"
"0000036744" "00001847" "50" "2041" "0" "2041" "0" "c.2041C>T" "r.(?)" "p.(Arg681*)" "14"
"0000036745" "00001847" "50" "2546" "0" "2546" "0" "c.2546T>C" "r.(?)" "p.(Val849Ala)" "16"
"0000036746" "00001847" "50" "3899" "0" "3899" "0" "c.3899G>A" "r.(?)" "p.(Arg1300Gln)" "27"
"0000036747" "00001847" "50" "2971" "0" "2971" "0" "c.2971G>C" "r.(?)" "p.(Gly991Arg)" "20"
"0000036748" "00001847" "50" "3377" "0" "3377" "0" "c.3377T>C" "r.(?)" "p.(Leu1126Pro)" "23"
"0000036749" "00001847" "50" "2966" "0" "2966" "0" "c.2966T>C" "r.(?)" "p.(Val989Ala)" "20"
"0000036750" "00001847" "50" "3602" "0" "3602" "0" "c.3602T>G" "r.(?)" "p.(Leu1201Arg)" "24"
"0000036751" "00001847" "50" "5289" "0" "5289" "0" "c.5289del" "r.(?)" "p.(Val1764Trpfs*14)" "37"
"0000036752" "00001847" "50" "1538" "0" "1538" "0" "c.1538T>G" "r.(?)" "p.(Val513Ala)" "11"
"0000036753" "00001847" "50" "6229" "0" "6229" "0" "c.6229C>G" "r.(?)" "p.(Arg2077Gly)" "45"
"0000036754" "00001847" "50" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000036755" "00001847" "50" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000036756" "00001847" "50" "3523" "-1" "3523" "-1" "c.3523-1G>A" "r.spl" "p.?" "23i"
"0000036757" "00001847" "50" "2971" "0" "2971" "0" "c.2971G>C" "r.(?)" "p.(Gly991Arg)" "20"
"0000036759" "00001847" "50" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.(Val256=)" "6"
"0000036760" "00001847" "50" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000036761" "00001847" "50" "2608" "0" "2608" "0" "c.2608C>T" "r.(?)" "p.(Pro870Ser)" "17"
"0000036762" "00001847" "50" "2966" "0" "2966" "0" "c.2966T>C" "r.(?)" "p.(Val989Ala)" "20"
"0000036763" "00001847" "50" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000036764" "00001847" "50" "1819" "0" "1819" "0" "c.1819G>C" "r.(?)" "p.(Gly607Arg)" "13"
"0000036765" "00001847" "50" "3602" "0" "3602" "0" "c.3602T>G" "r.(?)" "p.(Leu1201Arg)" "24"
"0000036766" "00001847" "50" "6119" "0" "6119" "0" "c.6119G>A" "r.(?)" "p.(Arg2040Gln)" "44"
"0000036767" "00001847" "50" "926" "0" "926" "0" "c.926C>G" "r.(?)" "p.(Pro309Arg)" "8"
"0000036768" "00001847" "50" "1609" "0" "1609" "0" "c.1609C>T" "r.(?)" "p.(Arg537Cys)" "12"
"0000036769" "00001847" "50" "3602" "0" "3602" "0" "c.3602T>G" "r.(?)" "p.(Leu1201Arg)" "24"
"0000036770" "00001847" "50" "3899" "0" "3899" "0" "c.3899G>A" "r.(?)" "p.(Arg1300Gln)" "27"
"0000036771" "00001847" "50" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000036772" "00001847" "50" "3602" "0" "3602" "0" "c.3602T>G" "r.(?)" "p.(Leu1201Arg)" "24"
"0000036773" "00001847" "50" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(?)" "p.(=)" "38i"
"0000036774" "00001847" "50" "6119" "0" "6119" "0" "c.6119G>A" "r.(?)" "p.(Arg2040Gln)" "44"
"0000036787" "00001847" "50" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(=)" "p.(=)" "38i"
"0000036788" "00001847" "50" "1592" "0" "1592" "0" "c.1592A>G" "r.(?)" "p.(Glu531Gly)" "12"
"0000036789" "00001847" "50" "3899" "0" "3899" "0" "c.3899G>A" "r.(?)" "p.(Arg1300Gln)" "27"
"0000036790" "00001847" "50" "2971" "0" "2971" "0" "c.2971G>C" "r.(?)" "p.(Gly991Arg)" "20"
"0000036791" "00001847" "50" "3899" "0" "3899" "0" "c.3899G>A" "r.(?)" "p.(Arg1300Gln)" "27"
"0000036792" "00001847" "50" "3413" "0" "3413" "0" "c.3413T>C" "r.(?)" "p.(Leu1138Pro)" "23"
"0000036793" "00001847" "50" "4537" "0" "4537" "0" "c.4537dup" "r.(?)" "p.(Gln1513Profs*42)" "30"
"0000036794" "00001847" "50" "5056" "0" "5056" "0" "c.5056G>A" "r.(?)" "p.(Val1686Met)" "36"
"0000036795" "00001847" "50" "3602" "0" "3602" "0" "c.3602T>G" "r.(?)" "p.(Leu1201Arg)" "24"
"0000036796" "00001847" "50" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" "35"
"0000036797" "00001847" "50" "5077" "0" "5077" "0" "c.5077G>A" "r.(?)" "p.(Val1693Ile)" "36"
"0000036798" "00001847" "50" "2947" "0" "2947" "0" "c.2947A>G" "r.(?)" "p.(Thr983Ala)" "20"
"0000036799" "00001847" "50" "5186" "0" "5186" "0" "c.5186T>C" "r.(?)" "p.(Leu1729Pro)" "36"
"0000036800" "00001847" "50" "2966" "0" "2966" "0" "c.2966T>C" "r.(?)" "p.(Val989Ala)" "20"
"0000036801" "00001847" "50" "1927" "0" "1927" "0" "c.1927G>A" "r.(?)" "p.(Val643Met)" "13"
"0000036802" "00001847" "50" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000036803" "00001847" "50" "3416" "0" "3416" "0" "c.3416A>G" "r.(?)" "p.(Tyr1139Cys)" "23"
"0000036804" "00001847" "50" "3602" "0" "3602" "0" "c.3602T>G" "r.(?)" "p.(Leu1201Arg)" "24"
"0000036805" "00001847" "50" "6119" "0" "6119" "0" "c.6119G>A" "r.(?)" "p.(Arg2040Gln)" "44"
"0000036806" "00001847" "50" "3602" "0" "3602" "0" "c.3602T>G" "r.(?)" "p.(Leu1201Arg)" "24"
"0000036807" "00001847" "50" "4540" "-2" "4540" "-2" "c.4540-2A>G" "r.spl" "p.?" "30i"
"0000036808" "00001847" "50" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000036809" "00001847" "50" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(?)" "p.(=)" "38i"
"0000036810" "00001847" "50" "3602" "0" "3602" "0" "c.3602T>G" "r.(?)" "p.(Leu1201Arg)" "24"
"0000036811" "00001847" "50" "3043" "0" "3043" "0" "c.3043T>C" "r.(?)" "p.(Phe1015Leu)" "20"
"0000036812" "00001847" "50" "3898" "0" "3898" "0" "c.3898C>T" "r.(?)" "p.(Arg1300*)" "27"
"0000036813" "00001847" "50" "6316" "0" "6316" "0" "c.6316C>T" "r.(?)" "p.(Arg2106Cys)" "46"
"0000036814" "00001847" "50" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000036815" "00001847" "50" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000036816" "00001847" "50" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000036817" "00001847" "50" "1015" "0" "1015" "0" "c.1015T>G" "r.(?)" "p.(Trp339Gly)" "8"
"0000036818" "00001847" "50" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000036819" "00001847" "50" "3899" "0" "3899" "0" "c.3899G>A" "r.(?)" "p.(Arg1300Gln)" "27"
"0000036820" "00001847" "50" "4925" "0" "4925" "0" "c.4925C>A" "r.(?)" "p.(Ser1642Ile)" "35"
"0000036821" "00001847" "50" "2925" "0" "2925" "0" "c.2925C>G" "r.(?)" "p.(Ile975Met)" "20"
"0000036822" "00001847" "50" "5932" "0" "5932" "0" "c.5932A>G" "r.(?)" "p.(Lys1978Glu)" "43"
"0000036823" "00001847" "50" "2966" "0" "2966" "0" "c.2966T>C" "r.(?)" "p.(Val989Ala)" "20"
"0000036824" "00001847" "50" "302" "1" "302" "1" "c.302+1G>A" "r.spl" "p.?" "3i"
"0000036825" "00001847" "50" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000036826" "00001847" "50" "3602" "0" "3602" "0" "c.3602T>G" "r.(?)" "p.(Leu1201Arg)" "24"
"0000036827" "00001847" "50" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000036828" "00001847" "50" "4925" "0" "4925" "0" "c.4925C>A" "r.(?)" "p.(Ser1642Ile)" "35"
"0000036829" "00001847" "50" "2966" "0" "2966" "0" "c.2966T>C" "r.(?)" "p.(Val989Ala)" "20"
"0000036830" "00001847" "50" "4253" "4" "4253" "4" "c.4253+4C>T" "r.spl?" "p.?" "28i"
"0000036831" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000036832" "00001847" "50" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000058964" "00001847" "50" "5843" "0" "5843" "0" "c.5843C>T" "r.(?)" "p.(Pro1948Leu)" "42"
"0000058965" "00001847" "50" "5843" "0" "5843" "0" "c.5843C>T" "r.(?)" "p.(Pro1948Leu)" "42"
"0000058966" "00001847" "50" "5843" "0" "5843" "0" "c.5843C>T" "r.(?)" "p.(Pro1948Leu)" "42"
"0000058967" "00001847" "10" "2828" "0" "2828" "0" "c.2828G>A" "r.(?)" "p.(Arg943Gln)" "19"
"0000058968" "00001847" "10" "2828" "0" "2828" "0" "c.2828G>A" "r.(?)" "p.(Arg943Gln)" "19"
"0000058969" "00001847" "10" "6764" "0" "6764" "0" "c.6764G>T" "r.(?)" "p.(Ser2255Ile)" "49"
"0000058970" "00001847" "10" "6764" "0" "6764" "0" "c.6764G>T" "r.(?)" "p.(Ser2255Ile)" "49"
"0000058971" "00001847" "70" "1522" "0" "1522" "0" "c.1522C>T" "r.(?)" "p.(Arg508Cys)" "11"
"0000058972" "00001847" "70" "5381" "0" "5381" "0" "c.5381C>A" "r.(?)" "p.(Ala1794Asp)" "38"
"0000058973" "00001847" "70" "5381" "0" "5381" "0" "c.5381C>A" "r.(?)" "p.(Ala1794Asp)" "38"
"0000058974" "00001847" "70" "3191" "-2" "3191" "0" "c.3191-2_3191del" "r.spl" "p.?" "21i_22"
"0000058975" "00001847" "10" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000058976" "00001847" "50" "2701" "0" "2701" "0" "c.2701A>G" "r.(?)" "p.(Thr901Ala)" "18"
"0000058977" "00001847" "10" "635" "0" "635" "0" "c.635G>A" "r.(?)" "p.(Arg212His)" "6"
"0000058978" "00001847" "90" "1554" "0" "1554" "0" "c.1554G>A" "r.(?)" "p.(?)" "11"
"0000058979" "00001847" "90" "4254" "-2" "4254" "-2" "c.4254-2A>G" "r.spl" "p.?" "28i"
"0000058980" "00001847" "70" "6529" "0" "6529" "0" "c.6529G>A" "r.(?)" "p.(Asp2177Asn)" "48"
"0000058981" "00001847" "90" "4316" "0" "4316" "0" "c.4316G>A" "r.(?)" "p.(Gly1439Asp)" "29"
"0000058982" "00001847" "90" "4316" "0" "4316" "0" "c.4316G>A" "r.(?)" "p.(Gly1439Asp)" "29"
"0000058983" "00001847" "70" "4539" "2001" "4539" "2001" "c.4539+2001G>A" "r.spl?" "p.(?)" "30i"
"0000058984" "00001847" "70" "4539" "2001" "4539" "2001" "c.4539+2001G>A" "r.spl?" "p.(?)" "30i"
"0000058985" "00001847" "70" "4539" "2001" "4539" "2001" "c.4539+2001G>A" "r.spl" "p.?" "30i"
"0000058986" "00001847" "70" "4539" "2001" "4539" "2001" "c.4539+2001G>A" "r.spl?" "p.(?)" "30i"
"0000058987" "00001847" "50" "4539" "2001" "4539" "2001" "c.4539+2001G>A" "r.spl?" "p.(?)" "30i"
"0000058988" "00001847" "50" "4539" "2001" "4539" "2001" "c.4539+2001G>A" "r.spl" "p.?" "30i"
"0000058989" "00001847" "50" "4539" "2001" "4539" "2001" "c.4539+2001G>A" "r.spl?" "p.(?)" "30i"
"0000058990" "00001847" "70" "4539" "2001" "4539" "2001" "c.4539+2001G>A" "r.spl?" "p.(?)" "30i"
"0000058993" "00001847" "70" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.spl" "p.?" "36i"
"0000058994" "00001847" "90" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.5196_5197ins5196+1140_5196+1212" "p.(=)" "36i"
"0000058995" "00001847" "90" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.5196_5197ins5196+1140_5196+1212" "p.(=)" "36i"
"0000058996" "00001847" "90" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.5196_5197ins5196+1140_5196+1212" "p.(=)" "36i"
"0000058997" "00001847" "90" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.5196_5197ins5196+1140_5196+1212" "p.(=)" "36i"
"0000058998" "00001847" "90" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.5196_5197ins5196+1140_5196+1212" "p.(=)" "36i"
"0000058999" "00001847" "90" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.5196_5197ins5196+1140_5196+1212" "p.(=)" "36i"
"0000059000" "00001847" "90" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.5196_5197ins5196+1140_5196+1212" "p.(=)" "36i"
"0000059001" "00001847" "90" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.5196_5197ins5196+1140_5196+1212" "p.(=)" "36i"
"0000059002" "00001847" "70" "5196" "1136" "5196" "1136" "c.5196+1136C>A" "r.spl" "p.?" "36i"
"0000059003" "00001847" "70" "5196" "1159" "5196" "1159" "c.5196+1159G>A" "r.spl?" "p.(?)" "36i"
"0000059004" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000059005" "00001847" "50" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000059006" "00001847" "50" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000059007" "00001847" "50" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000059008" "00001847" "50" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000059009" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000059010" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000059011" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000059012" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000059013" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000059014" "00001847" "90" "1025" "0" "1038" "0" "c.1025_1038del" "r.(?)" "p.(Asp342Glyfs*6)" "8"
"0000059015" "00001847" "90" "4363" "0" "4363" "0" "c.4363T>C" "r.(?)" "p.(Cys1455Arg)" "30"
"0000059016" "00001847" "90" "454" "0" "454" "0" "c.454C>T" "r.(?)" "p.(Arg152*)" "5"
"0000059017" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.?" "38i"
"0000059018" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.?" "38i"
"0000059019" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.?" "38i"
"0000059020" "00001847" "70" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl?" "p.(?)" "38i"
"0000059021" "00001847" "70" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl?" "p.(?)" "38i"
"0000059023" "00001847" "90" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" "31"
"0000059024" "00001847" "90" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" "31"
"0000059025" "00001847" "90" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" "31"
"0000059026" "00001847" "90" "5196" "1216" "5196" "1216" "c.5196+1216C>A" "r.5196_5197ins5196+1140_5196+1212" "p.Met1733fs*" "36i"
"0000059027" "00001847" "90" "5196" "1056" "5196" "1056" "c.5196+1056A>G" "r.5196_5197ins5196+880_5196+1056" "p.(=)" "36i"
"0000059028" "00001847" "90" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" "44"
"0000059029" "00001847" "70" "4539" "2028" "4539" "2028" "c.4539+2028C>T" "r.spl?" "p.(?)" "30i"
"0000059030" "00001847" "70" "4539" "2028" "4539" "2028" "c.4539+2028C>T" "r.spl?" "p.(?)" "30i"
"0000059031" "00001847" "70" "4539" "2028" "4539" "2028" "c.4539+2028C>T" "r.spl?" "p.(?)" "30i"
"0000059032" "00001847" "70" "4539" "2028" "4539" "2028" "c.4539+2028C>T" "r.spl?" "p.(?)" "30i"
"0000059033" "00001847" "70" "4539" "2028" "4539" "2028" "c.4539+2028C>T" "r.spl?" "p.(?)" "30i"
"0000059034" "00001847" "70" "4539" "2028" "4539" "2028" "c.4539+2028C>T" "r.spl?" "p.(?)" "30i"
"0000059035" "00001847" "70" "4539" "2028" "4539" "2028" "c.4539+2028C>T" "r.spl?" "p.(?)" "30i"
"0000059036" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000059037" "00001847" "90" "194" "0" "194" "0" "c.194G>A" "r.(?)" "p.(Gly65Glu)" "3"
"0000059038" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.spl?" "p.(Gly863Ala)" "17"
"0000059039" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.spl?" "p.(Gly863Ala)" "17"
"0000059040" "00001847" "90" "6342" "0" "6342" "0" "c.6342G>A" "r.(?)" "p.(Val2114=)" "46"
"0000059041" "00001847" "90" "6342" "0" "6342" "0" "c.6342G>A" "r.(?)" "p.(Val2114=)" "46"
"0000059042" "00001847" "90" "6342" "0" "6342" "0" "c.6342G>A" "r.(?)" "p.(Val2114=)" "46"
"0000059043" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000059044" "00001847" "90" "52" "0" "52" "0" "c.52C>T" "r.(?)" "p.(Arg18Trp)" "1"
"0000059045" "00001847" "90" "4773" "3" "4773" "3" "c.4773+3A>G" "r.spl" "p.?" "33i"
"0000059046" "00001847" "90" "4773" "3" "4773" "3" "c.4773+3A>G" "r.spl" "p.?" "33i"
"0000059047" "00001847" "90" "4773" "3" "4773" "3" "c.4773+3A>G" "r.spl" "p.?" "33i"
"0000059048" "00001847" "50" "4870" "0" "4870" "0" "c.4870T>G" "r.(?)" "p.(Trp1624Gly)" "35"
"0000059049" "00001847" "50" "319" "0" "319" "0" "c.319C>T" "r.(?)" "p.(Arg107*)" "4"
"0000059050" "00001847" "90" "2919" "-1" "3328" "1" "c.(2918+1_2919-1)_(3328+1_3329-1)del" "r.(del)" "p.(Ser974Glnfs*64)" "19i_22i"
"0000059051" "00001847" "90" "2919" "-1" "3328" "1" "c.(2918+1_2919-1)_(3328+1_3329-1)del" "r.(del)" "p.(Ser974Glnfs*64)" "19i_22i"
"0000059052" "00001847" "90" "2919" "-1" "3328" "1" "c.(2918+1_2919-1)_(3328+1_3329-1)del" "r.(del)" "p.(Ser974Glnfs*64)" "19i_22i"
"0000059053" "00001847" "90" "2919" "-1" "3328" "1" "c.(2918+1_2919-1)_(3328+1_3329-1)del" "r.(del)" "p.(Ser974Glnfs*64)" "19i_22i"
"0000059056" "00001847" "50" "4462" "0" "4462" "0" "c.4462T>C" "r.(?)" "p.(Cys1488Arg)" "30"
"0000059057" "00001847" "70" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.spl?" "p.(?)" "36i"
"0000059058" "00001847" "50" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.spl?" "p.(?)" "36i"
"0000059059" "00001847" "70" "4892" "0" "4892" "0" "c.4892T>C" "r.(?)" "p.(Leu1631Pro)" "35"
"0000059061" "00001847" "70" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.(?)" "6"
"0000059062" "00001847" "70" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.(?)" "6"
"0000059064" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000059065" "00001847" "90" "443" "-1" "570" "1" "c.(442+1_443-1)_(570+1_571-1)del" "r.(del)" "p.(Gly148Valfs*89)" "4i_5i"
"0000059067" "00001847" "50" "5584" "6" "5584" "6" "c.5584+6T>C" "r.spl?" "p.(?)" "39i"
"0000059069" "00001847" "90" "3874" "0" "3874" "0" "c.3874C>T" "r.(?)" "p.(Gln1292*)" "27"
"0000059070" "00001847" "77" "175" "0" "175" "0" "c.175A>G" "r.(?)" "p.(Lys59Glu)" "3"
"0000059071" "00001847" "70" "1343" "0" "1343" "0" "c.1343T>A" "r.(?)" "p.(Met448Lys)" "10"
"0000059072" "00001847" "70" "1343" "0" "1343" "0" "c.1343T>A" "r.(?)" "p.(Met448Lys)" "10"
"0000059073" "00001847" "70" "1748" "0" "1748" "0" "c.1748A>T" "r.(?)" "p.(Lys583Met)" "12"
"0000059074" "00001847" "70" "1748" "0" "1748" "0" "c.1748A>T" "r.(?)" "p.(Lys583Met)" "12"
"0000059075" "00001847" "70" "2461" "0" "2461" "0" "c.2461T>C" "r.(?)" "p.(Trp821Arg)" "16"
"0000059076" "00001847" "77" "2461" "0" "2461" "0" "c.2461T>C" "r.(?)" "p.(Trp821Arg)" "16"
"0000059077" "00001847" "70" "2852" "0" "2852" "0" "c.2852T>C" "r.(?)" "p.(Ile951Thr)" "19"
"0000059078" "00001847" "70" "4559" "0" "4559" "0" "c.4559A>G" "r.(?)" "p.(Glu1520Gly)" "31"
"0000059079" "00001847" "75" "160" "5" "160" "5" "c.160+5G>C" "r.spl?" "p.(?)" "2i"
"0000059081" "00001847" "75" "160" "5" "160" "5" "c.160+5G>C" "r.spl?" "p.(?)" "2i"
"0000059082" "00001847" "70" "5312" "2" "5312" "2" "c.5312+2T>G" "r.spl" "p.?" "37i"
"0000059083" "00001847" "70" "5836" "-3" "5836" "-3" "c.5836-3C>A" "r.spl?" "p.?" "41i"
"0000059084" "00001847" "79" "889" "0" "889" "0" "c.889del" "r.(?)" "p.(Leu297Cysfs*3)" "8"
"0000059085" "00001847" "79" "913" "0" "913" "0" "c.913C>T" "r.(?)" "p.(Gln305*)" "8"
"0000059086" "00001847" "70" "4872" "0" "4872" "0" "c.4872G>A" "r.(?)" "p.(Trp1624*)" "35"
"0000079620" "00001847" "00" "-4263834" "0" "654132" "0" "c.-4263834_*647310del" "r.?" "p.?" ""
"0000088038" "00001847" "70" "1462" "0" "1462" "0" "c.1462G>T" "r.(?)" "p.(Glu488*)" "11"
"0000118924" "00001847" "99" "2588" "0" "2588" "0" "c.2588G>C" "r.spl?" "p.(?)" "17"
"0000118925" "00001847" "97" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000118926" "00001847" "77" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000118927" "00001847" "77" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000118928" "00001847" "99" "5312" "1" "5312" "1" "c.5312+1G>A" "r.spl" "p.?" "37i"
"0000118929" "00001847" "99" "4234" "0" "4234" "0" "c.4234C>T" "r.(?)" "p.(Gln1412*)" "28"
"0000119961" "00001847" "90" "3085" "0" "3085" "0" "c.3085C>T" "r.(?)" "p.(Gln1029*)" "21"
"0000119962" "00001847" "90" "1293" "0" "1293" "0" "c.1293G>A" "r.(?)" "p.(Trp431*)" "10"
"0000119963" "00001847" "70" "1958" "0" "1958" "0" "c.1958G>A" "r.(?)" "p.(Arg653His)" "14"
"0000119964" "00001847" "50" "3899" "0" "3899" "0" "c.3899G>A" "r.(?)" "p.(Arg1300Gln)" "27"
"0000119965" "00001847" "70" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.(?)" "6"
"0000119966" "00001847" "90" "443" "-1" "570" "1" "c.(442+1_443-1)_(570+1_571-1)del" "r.(del)" "p.(Gly148Valfs*89)" "4i_5i"
"0000119972" "00001847" "90" "1995" "0" "1995" "0" "c.1995C>A" "r.(?)" "p.(Tyr665*)" "14"
"0000119973" "00001847" "90" "1995" "0" "1995" "0" "c.1995C>A" "r.(?)" "p.(Tyr665*)" "14"
"0000119974" "00001847" "50" "6122" "0" "6122" "0" "c.6122G>A" "r.(?)" "p.(Gly2041Asp)" "44"
"0000119975" "00001847" "70" "4297" "0" "4297" "0" "c.4297G>A" "r.(?)" "p.(Val1433Ile)" "29"
"0000119976" "00001847" "30" "872" "0" "872" "0" "c.872C>T" "r.(?)" "p.(Pro291Leu)" "8"
"0000119977" "00001847" "70" "319" "0" "319" "0" "c.319C>T" "r.(?)" "p.(Arg107*)" "4"
"0000119978" "00001847" "50" "1150" "0" "1150" "0" "c.1150A>G" "r.(?)" "p.(Lys384Glu)" "9"
"0000119979" "00001847" "50" "2828" "0" "2828" "0" "c.2828G>A" "r.(?)" "p.(Arg943Gln)" "19"
"0000119980" "00001847" "70" "6445" "0" "6445" "0" "c.6445C>T" "r.(?)" "p.(Arg2149*)" "47"
"0000119981" "00001847" "50" "635" "0" "635" "0" "c.635G>A" "r.(?)" "p.(Arg212His)" "6"
"0000119982" "00001847" "70" "4316" "0" "4316" "0" "c.4316G>A" "r.(?)" "P.(Gly1439Asp)" "29"
"0000119983" "00001847" "70" "4793" "0" "4793" "0" "c.4793C>A" "r.(?)" "p.(Ala1598Asp)" "34"
"0000119984" "00001847" "70" "4793" "0" "4793" "0" "c.4793C>A" "r.(?)" "p.(Ala1598Asp)" "34"
"0000119985" "00001847" "50" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000119986" "00001847" "50" "6563" "0" "6563" "0" "c.6563T>C" "r.(?)" "p.(Phe2188Ser)" "48"
"0000119987" "00001847" "70" "4793" "0" "4793" "0" "c.4793C>A" "r.(?)" "p.(Ala1598Asp)" "34"
"0000119988" "00001847" "70" "983" "0" "983" "0" "c.983A>T" "r.(?)" "p.(Glu328Val)" "8"
"0000119989" "00001847" "90" "6148" "0" "6148" "0" "c.6148G>C" "r.(?)" "p.(Val2050Leu)" "45"
"0000119990" "00001847" "90" "287" "0" "287" "0" "c.287del" "r.(?)" "p.(Asn96Thrfs*19)" "3"
"0000119991" "00001847" "90" "6148" "0" "6148" "0" "c.6148G>C" "r.(?)" "p.(Val2050Leu)" "45"
"0000119992" "00001847" "90" "287" "0" "287" "0" "c.287del" "r.(?)" "p.(Asn96Thrfs*19)" "3"
"0000119993" "00001847" "90" "950" "0" "950" "0" "c.950del" "r.(?)" "p.(Gly317Alafs*57)" "8"
"0000119994" "00001847" "90" "4720" "0" "4720" "0" "c.4720G>T" "r.(?)" "p.(Glu1574*)" "33"
"0000119995" "00001847" "90" "950" "0" "950" "0" "c.950del" "r.(?)" "p.(Gly317Alafs*57)" "8"
"0000119996" "00001847" "90" "4720" "0" "4720" "0" "c.4720G>T" "r.(?)" "p.(Glu1574*)" "33"
"0000119997" "00001847" "70" "2285" "0" "2285" "0" "c.2285C>A" "r.(?)" "p.(Ala762Glu)" "15"
"0000119998" "00001847" "70" "2285" "0" "2285" "0" "c.2285C>A" "r.(?)" "p.(Ala762Glu)" "15"
"0000119999" "00001847" "90" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000120000" "00001847" "30" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.(?)" "6"
"0000120001" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000120002" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000120003" "00001847" "70" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071Cysfs*14)" "22"
"0000120004" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000120005" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000120006" "00001847" "70" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.(?)" "6"
"0000120007" "00001847" "90" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.0?" "1"
"0000120008" "00001847" "70" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.(?)" "6"
"0000120009" "00001847" "70" "5761" "0" "5761" "0" "c.5761G>A" "r.(?)" "p.(Val1921Met)" "41"
"0000120010" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000120011" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000120012" "00001847" "70" "2069" "0" "2069" "0" "c.2069del" "r.(?)" "p.(Gly690Valfs*6)" "14"
"0000120013" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000120014" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000120015" "00001847" "70" "4462" "0" "4462" "0" "c.4462T>C" "r.(?)" "p.(Cys1488Arg)" "30"
"0000120016" "00001847" "70" "4610" "0" "4610" "0" "c.4610C>T" "r.(?)" "p.(Thr1537Met)" "31"
"0000120017" "00001847" "70" "2536" "0" "2536" "0" "c.2536G>C" "r.(?)" "p.(Asp846His)" "16"
"0000120018" "00001847" "70" "1924" "0" "1924" "0" "c.1924T>A" "r.(?)" "p.(Phe642Ile)" "13"
"0000120019" "00001847" "70" "1924" "0" "1924" "0" "c.1924T>A" "r.(?)" "p.(Phe642Ile)" "13"
"0000120020" "00001847" "70" "1924" "0" "1924" "0" "c.1924T>A" "r.(?)" "p.(Phe642Ile)" "13"
"0000120021" "00001847" "90" "2041" "0" "2041" "0" "c.2041C>T" "r.(?)" "p.(Arg681*)" "14"
"0000120022" "00001847" "90" "6088" "0" "6088" "0" "c.6088C>T" "r.(?)" "p.(Arg2030*)" "44"
"0000120023" "00001847" "90" "2041" "0" "2041" "0" "c.2041C>T" "r.(?)" "p.(Arg681*)" "14"
"0000120024" "00001847" "90" "6088" "0" "6088" "0" "c.6088C>T" "r.(?)" "p.(Arg2030*)" "44"
"0000120025" "00001847" "90" "2041" "0" "2041" "0" "c.2041C>T" "r.(?)" "p.(Arg681*)" "14"
"0000120026" "00001847" "90" "6088" "0" "6088" "0" "c.6088C>T" "r.(?)" "p.(Arg2030*)" "44"
"0000120027" "00001847" "90" "1531" "0" "1531" "0" "c.1531C>T" "r.(?)" "p.(Arg511Cys)" "11"
"0000120028" "00001847" "70" "6479" "1" "6479" "1" "c.6479+1G>C" "r.spl" "p.?" "47i"
"0000120029" "00001847" "70" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000120030" "00001847" "70" "5584" "0" "5584" "0" "c.5584G>C" "r.spl?" "p.(Gly1862Arg)" "39"
"0000120031" "00001847" "70" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000120032" "00001847" "70" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000120033" "00001847" "70" "6479" "4" "6479" "4" "c.6479+4A>G" "r.spl?" "p.(?)" "47i"
"0000120034" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000120035" "00001847" "70" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000120036" "00001847" "50" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000120037" "00001847" "50" "3862" "3" "3862" "3" "c.3862+3A>G" "r.spl?" "p.(?)" "26i"
"0000120038" "00001847" "50" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(?)" "p.(?)" "38i"
"0000120039" "00001847" "90" "4169" "0" "4169" "0" "c.4169T>C" "r.(?)" "p.(Leu1390Pro)" "28"
"0000120040" "00001847" "70" "161" "0" "161" "0" "c.161G>A" "r.(?)" "p.(Cys54Tyr)" "3"
"0000120041" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.?" "40i"
"0000120042" "00001847" "90" "2385" "0" "2385" "0" "c.2385C>T" "r.(=)" "p.(=)" "16"
"0000120043" "00001847" "70" "6221" "0" "6221" "0" "c.6221G>T" "r.(?)" "p.(Gly2074Val)" "45"
"0000120044" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000120045" "00001847" "90" "5898" "1" "5898" "1" "c.5898+1G>A" "r.spl" "p.?" "42i"
"0000120046" "00001847" "90" "5899" "-2" "5899" "-2" "c.5899-2del" "r.spl" "p.?" "42i"
"0000120047" "00001847" "70" "559" "0" "559" "0" "c.559C>T" "r.(?)" "p.(Arg187Cys)" "5"
"0000120048" "00001847" "70" "5645" "0" "5645" "0" "c.5645T>C" "r.(?)" "p.(Met1882Thr)" "40"
"0000120049" "00001847" "70" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.(?)" "6"
"0000120050" "00001847" "70" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" "31"
"0000120051" "00001847" "70" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000120052" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000120053" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000120054" "00001847" "70" "1927" "0" "1927" "0" "c.1927G>A" "r.(?)" "p.(Val643Met)" "13"
"0000120055" "00001847" "30" "5186" "0" "5186" "0" "c.5186T>C" "r.(?)" "p.(Leu1729Pro)" "36"
"0000120056" "00001847" "70" "6529" "0" "6529" "0" "c.6529G>A" "r.(?)" "p.(Asp2177Asn)" "48"
"0000120057" "00001847" "30" "3364" "0" "3364" "0" "c.3364G>A" "r.(?)" "p.(Glu1122Lys)" "23"
"0000120058" "00001847" "70" "4222" "0" "4222" "0" "c.4222T>C" "r.(?)" "p.(Trp1408Arg)" "28"
"0000120059" "00001847" "70" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" "35"
"0000120060" "00001847" "70" "1532" "0" "1532" "0" "c.1532G>A" "r.(?)" "p.(Arg511His)" "11"
"0000120061" "00001847" "30" "3899" "0" "3899" "0" "c.3899G>A" "r.(?)" "p.(Arg1300Gln)" "27"
"0000120062" "00001847" "50" "1933" "0" "1933" "0" "c.1933G>A" "r.(?)" "p.(Asp645Asn)" "13"
"0000120063" "00001847" "50" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" "35"
"0000120064" "00001847" "70" "859" "-9" "859" "-9" "c.859-9T>C" "r.(?)" "p.(?)" "7i"
"0000120065" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000120066" "00001847" "90" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973*)" "43"
"0000120067" "00001847" "90" "4661" "0" "4661" "0" "c.4661A>G" "r.(?)" "p.(Glu1554Gly)" "32"
"0000120068" "00001847" "70" "4383" "0" "4383" "0" "c.4383G>A" "r.(?)" "p.(Trp1461*)" "30"
"0000120069" "00001847" "70" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.(?)" "38i"
"0000120070" "00001847" "70" "3259" "0" "3259" "0" "c.3259G>A" "r.(?)" "p.(Glu1087Lys)" "22"
"0000120071" "00001847" "70" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.(?)" "38i"
"0000120072" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000120073" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000120074" "00001847" "70" "4919" "0" "4919" "0" "c.4919G>A" "r.(?)" "p.(Arg1640Gln)" "35"
"0000120075" "00001847" "50" "1294" "0" "1294" "0" "c.1294G>A" "r.(?)" "p.(Glu432Lys)" "10"
"0000120076" "00001847" "50" "4283" "0" "4283" "0" "c.4283C>T" "r.(?)" "p.(Thr1428Met)" "29"
"0000120077" "00001847" "50" "6445" "0" "6445" "0" "c.6445C>T" "r.(?)" "p.(Arg2149*)" "47"
"0000120078" "00001847" "30" "763" "0" "763" "0" "c.763C>T" "r.(?)" "p.(Arg255Cys)" "6"
"0000120079" "00001847" "70" "3626" "0" "3626" "0" "c.3626T>C" "r.(?)" "p.(Met1209Thr)" "25"
"0000120080" "00001847" "50" "1699" "0" "1699" "0" "c.1699G>A" "r.(?)" "p.(Val567Met)" "12"
"0000120081" "00001847" "50" "1699" "0" "1699" "0" "c.1699G>A" "r.(?)" "p.(Val567Met)" "12"
"0000120082" "00001847" "50" "1699" "0" "1699" "0" "c.1699G>A" "r.(?)" "p.(Val567Met)" "12"
"0000120083" "00001847" "70" "4195" "0" "4195" "0" "c.4195G>A" "r.(?)" "p.(Glu1399Lys)" "28"
"0000120084" "00001847" "70" "2798" "0" "2798" "0" "c.2798A>T" "r.(?)" "p.(Asn933Ile)" "19"
"0000120085" "00001847" "50" "194" "0" "194" "0" "c.194G>A" "r.(?)" "p.(Gly65Glu)" "3"
"0000120086" "00001847" "50" "4283" "0" "4283" "0" "c.4283C>T" "r.(?)" "p.(Thr1428Met)" "29"
"0000120087" "00001847" "70" "1760" "2" "1760" "2" "c.1760+2T>G" "r.spl" "p.?" "12i"
"0000120088" "00001847" "50" "1699" "0" "1699" "0" "c.1699G>A" "r.(?)" "p.(Val567Met)" "12"
"0000120089" "00001847" "70" "161" "0" "161" "0" "c.161G>T" "r.(?)" "p.(Cys54Phe)" "3"
"0000120090" "00001847" "90" "2160" "1" "2160" "1" "c.2160+1G>C" "r.spl" "p.?" "14i"
"0000120091" "00001847" "90" "4320" "0" "4320" "0" "c.4320del" "r.(?)" "p.(Phe1440Leufs*6)" "29"
"0000120092" "00001847" "70" "2617" "0" "2617" "0" "c.2617T>C" "r.(?)" "p.(Phe873Leu)" "17"
"0000120093" "00001847" "90" "161" "0" "161" "0" "c.161G>A" "r.(?)" "p.(Cys54Tyr)" "3"
"0000120094" "00001847" "70" "1317" "0" "1317" "0" "c.1317G>A" "r.(?)" "p.(Trp439*)" "10"
"0000120095" "00001847" "90" "1805" "0" "1805" "0" "c.1805G>A" "r.(?)" "p.(Arg602Gln)" "13"
"0000120096" "00001847" "90" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071Cysfs*14)" "22"
"0000120097" "00001847" "90" "2041" "0" "2041" "0" "c.2041C>T" "r.(?)" "p.(Arg681*)" "14"
"0000120098" "00001847" "70" "1519" "0" "1519" "0" "c.1519G>T" "r.(?)" "p.(Asp507Tyr)" "11"
"0000120099" "00001847" "70" "6416" "0" "6416" "0" "c.6416G>C" "r.(?)" "p.(Arg2139Pro)" "47"
"0000120100" "00001847" "70" "161" "0" "161" "0" "c.161G>A" "r.(?)" "p.(Cys54Tyr)" "3"
"0000120101" "00001847" "90" "43" "0" "47" "0" "c.43_47del" "r.(?)" "p.(Trp15Profs*37)" "1"
"0000120102" "00001847" "70" "5584" "6" "5584" "6" "c.5584+6T>C" "r.spl?" "p.(?)" "39i"
"0000120103" "00001847" "50" "4539" "2001" "4539" "2001" "c.4539+2001G>A" "r.(?)" "p.(?)" "30i"
"0000120104" "00001847" "50" "4892" "0" "4892" "0" "c.4892T>C" "r.4892u>c" "p.Leu1631Pro" "35"
"0000120105" "00001847" "70" "4539" "2001" "4539" "2001" "c.4539+2001G>A" "r.4539_4540ins[4539+1891_4539+2000;a;4539+2002_4540-2162]" "p.(=)" "30i"
"0000120106" "00001847" "70" "2453" "0" "2453" "0" "c.2453G>A" "r.(?)" "p.(Gly818Glu)" "16"
"0000120107" "00001847" "50" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000120108" "00001847" "90" "2893" "0" "2893" "0" "c.2893A>G" "r.(?)" "p.(Asn965Asp)" "19"
"0000120109" "00001847" "70" "2791" "0" "2791" "0" "c.2791G>A" "r.(?)" "p.(Val931Met)" "19"
"0000120110" "00001847" "70" "5044" "0" "5058" "0" "c.5044_5058del" "r.(?)" "p.(Val1682_Val1686del)" "36"
"0000120111" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000120112" "00001847" "30" "5196" "2" "5196" "2" "c.5196+2T>C" "r.spl?" "p.(?)" "36i"
"0000120113" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000120114" "00001847" "30" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000120115" "00001847" "90" "6319" "0" "6319" "0" "c.6319C>T" "r.(?)" "p.(Arg2107Cys)" "46"
"0000120116" "00001847" "70" "6709" "0" "6710" "0" "c.6709_6710insG" "r.(?)" "p.(Thr2237Serfs*14)" "48"
"0000120117" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.(?)" "6"
"0000120118" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.spl?" "p.(Gly863Ala)" "17"
"0000120119" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000120120" "00001847" "90" "4539" "1" "4539" "1" "c.4539+1G>T" "r.spl" "p.?" "30i"
"0000120121" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000120122" "00001847" "90" "3335" "0" "3335" "0" "c.3335C>A" "r.(?)" "p.(Thr1112Asn)" "23"
"0000120123" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000120124" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000120125" "00001847" "90" "2870" "0" "2870" "0" "c.2870A>G" "r.(?)" "p.(Gln957Arg)" "19"
"0000120126" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000120127" "00001847" "90" "5161" "0" "5162" "0" "c.5161_5162del" "r.(?)" "p.(Thr1721Hisfs*65)" "36"
"0000120128" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000120129" "00001847" "90" "4200" "0" "4200" "0" "c.4200C>A" "r.(?)" "p.(Tyr1400*)" "28"
"0000120130" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000120131" "00001847" "90" "5668" "0" "5670" "0" "c.5668_5670del" "r.(?)" "p.(Phe1890del)" "40"
"0000120132" "00001847" "90" "5381" "0" "5381" "0" "c.5381C>A" "r.(?)" "p.(Ala1794Asp)" "38"
"0000120133" "00001847" "70" "4234" "0" "4234" "0" "c.4234C>T" "r.(?)" "p.(Gln1412*)" "28"
"0000120134" "00001847" "90" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000120135" "00001847" "70" "108" "0" "108" "0" "c.108del" "r.(?)" "p.(Leu37Trpfs*3)" "2"
"0000120136" "00001847" "70" "52" "0" "52" "0" "c.52C>T" "r.(?)" "p.(Arg18Trp)" "1"
"0000120137" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000120138" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000120139" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.?" "40i"
"0000120140" "00001847" "30" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" "35"
"0000120141" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000120142" "00001847" "70" "5537" "0" "5537" "0" "c.5537T>C" "r.(?)" "p.(Ile1846Thr)" "39"
"0000120143" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000120144" "00001847" "70" "1220" "0" "1220" "0" "c.1220C>T" "r.(?)" "p.(Ala407Val)" "9"
"0000120145" "00001847" "70" "1220" "0" "1220" "0" "c.1220C>T" "r.(?)" "p.(Ala407Val)" "9"
"0000120146" "00001847" "70" "1220" "0" "1220" "0" "c.1220C>T" "r.(?)" "p.(Ala407Val)" "9"
"0000120147" "00001847" "70" "1220" "0" "1220" "0" "c.1220C>T" "r.(?)" "p.(Ala407Val)" "9"
"0000120148" "00001847" "70" "1220" "0" "1220" "0" "c.1220C>T" "r.(?)" "p.(Ala407Val)" "9"
"0000120149" "00001847" "70" "1220" "0" "1220" "0" "c.1220C>T" "r.(?)" "p.(Ala407Val)" "9"
"0000120150" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.spl?" "p.?" "17"
"0000120151" "00001847" "70" "1271" "0" "1271" "0" "c.1271T>C" "r.(?)" "p.(Val424Ala)" "10"
"0000120152" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.spl?" "p.?" "17"
"0000120153" "00001847" "70" "1271" "0" "1271" "0" "c.1271T>C" "r.(?)" "p.(Val424Ala)" "10"
"0000120154" "00001847" "50" "6088" "0" "6088" "0" "c.6088C>T" "r.(?)" "p.(Arg2030*)" "44"
"0000120155" "00001847" "50" "6449" "0" "6449" "0" "c.6449G>A" "r.(?)" "p.(Cys2150Tyr)" "47"
"0000120156" "00001847" "50" "6449" "0" "6449" "0" "c.6449G>A" "r.(?)" "p.(Cys2150Tyr)" "47"
"0000120157" "00001847" "90" "161" "0" "161" "0" "c.161G>A" "r.(?)" "p.(Cys54Tyr)" "3"
"0000120158" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.spl?" "p.?" "17"
"0000120159" "00001847" "90" "161" "0" "161" "0" "c.161G>A" "r.(?)" "p.(Cys54Tyr)" "3"
"0000120160" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.spl?" "p.?" "17"
"0000120161" "00001847" "90" "161" "0" "161" "0" "c.161G>A" "r.(?)" "p.(Cys54Tyr)" "3"
"0000120162" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.spl?" "p.?" "17"
"0000120163" "00001847" "50" "2588" "0" "2588" "0" "c.2588G>C" "r.spl?" "p.?" "17"
"0000120164" "00001847" "50" "286" "0" "286" "0" "c.286A>G" "r.(?)" "p.(Asn96Asp)" "3"
"0000120165" "00001847" "70" "286" "0" "286" "0" "c.286A>C" "r.(?)" "p.(Asn96His)" "3"
"0000120166" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.spl?" "p.?" "17"
"0000120167" "00001847" "50" "466" "0" "466" "0" "c.466A>G" "r.(?)" "p.(Ile156Val)" "5"
"0000120168" "00001847" "50" "1335" "0" "1335" "0" "c.1335C>G" "r.(?)" "p.(Ser445Arg)" "10"
"0000120169" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000120170" "00001847" "50" "2337" "0" "2337" "0" "c.2337C>A" "r.(?)" "p.(Cys779*)" "15"
"0000120171" "00001847" "50" "3393" "0" "3393" "0" "c.3393del" "r.(?)" "p.(Ile1132Serfs*16)" "23"
"0000120172" "00001847" "50" "4286" "0" "4286" "0" "c.4286T>C" "r.(?)" "p.(Val1429Ala)" "29"
"0000120173" "00001847" "50" "4774" "-2" "4774" "-2" "c.4774-2A>C" "r.spl" "p.?" "33i"
"0000120174" "00001847" "50" "4774" "-2" "4774" "-2" "c.4774-2A>C" "r.spl" "p.?" "33i"
"0000120175" "00001847" "50" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" "35"
"0000120176" "00001847" "50" "5107" "0" "5107" "0" "c.5107C>G" "r.(?)" "p.(Gln1703Glu)" "36"
"0000120177" "00001847" "50" "5161" "0" "5162" "0" "c.5161_5162del" "r.(?)" "p.(Thr1721Hisfs*65)" "36"
"0000120178" "00001847" "50" "5337" "0" "5337" "0" "c.5337C>G" "r.(?)" "p.(Tyr1779*)" "38"
"0000120179" "00001847" "50" "6282" "7" "6282" "7" "c.6282+7G>A" "r.(?)" "p.(?)" "45i"
"0000120180" "00001847" "50" "6479" "0" "6479" "0" "c.6479A>G" "r.(?)" "p.(Lys2160Arg)" "47"
"0000120181" "00001847" "90" "1" "0" "3" "0" "c.1_3delinsGTC" "r.(?)" "p.0?" "1"
"0000120182" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000120183" "00001847" "70" "247" "0" "250" "0" "c.247_250dup" "r.(?)" "p.(Ser84Thrfs*16)" "3"
"0000120184" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000120185" "00001847" "70" "247" "0" "250" "0" "c.247_250dup" "r.(?)" "p.(Ser84Thrfs*16)" "3"
"0000120186" "00001847" "70" "454" "0" "454" "0" "c.454C>T" "r.(?)" "p.(Arg152*)" "5"
"0000120187" "00001847" "90" "6319" "0" "6319" "0" "c.6319C>T" "r.(?)" "p.(Arg2107Cys)" "46"
"0000120188" "00001847" "50" "666" "0" "678" "0" "c.666_678del" "r.(?)" "p.(Lys223Metfs*14)" "6"
"0000120189" "00001847" "50" "666" "0" "678" "0" "c.666_678del" "r.(?)" "p.(Lys223Metfs*14)" "6"
"0000120190" "00001847" "70" "4457" "0" "4457" "0" "c.4457C>T" "r.(?)" "p.(Pro1486Leu)" "30"
"0000120191" "00001847" "70" "3899" "0" "3899" "0" "c.3899G>A" "r.(?)" "p.(Arg1300Gln)" "27"
"0000120192" "00001847" "70" "832" "0" "832" "0" "c.832del" "r.(?)" "p.(Ser278Leufs*22)" "7"
"0000120193" "00001847" "90" "1066" "0" "1066" "0" "c.1066A>T" "r.(?)" "p.(Lys356*)" "8"
"0000120194" "00001847" "90" "4537" "0" "4537" "0" "c.4537dup" "r.(?)" "p.(Gln1513Profs*42)" "30"
"0000120195" "00001847" "70" "1937" "2" "1937" "2" "c.1937+2T>C" "r.spl?" "p.(?)" "13i"
"0000120196" "00001847" "90" "230" "0" "230" "0" "c.230T>A" "r.(?)" "p.(Val77Glu)" "3"
"0000120197" "00001847" "90" "4163" "0" "4163" "0" "c.4163T>C" "r.(?)" "p.(Leu1388Pro)" "28"
"0000120198" "00001847" "70" "2041" "0" "2041" "0" "c.2041C>T" "r.(?)" "p.(Arg681*)" "14"
"0000120199" "00001847" "50" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071Cysfs*14)" "22"
"0000120200" "00001847" "50" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071Cysfs*14)" "22"
"0000120201" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000120202" "00001847" "70" "3342" "0" "3342" "0" "c.3342del" "r.(?)" "p.(Met1115Cysfs*33)" "23"
"0000120203" "00001847" "90" "4036" "0" "4037" "0" "c.4036_4037dup" "r.(?)" "p.(Gly1347Argfs*43)" "27"
"0000120204" "00001847" "90" "3862" "1" "3862" "1" "c.3862+1G>A" "r.spl" "p.?" "26i"
"0000120205" "00001847" "50" "4537" "0" "4537" "0" "c.4537dup" "r.(?)" "p.(Gln1513Profs*42)" "30"
"0000120206" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000120207" "00001847" "70" "4710" "0" "4710" "0" "c.4710del" "r.(?)" "p.(Ile1571Serfs*10)" "33"
"0000120208" "00001847" "90" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" "31"
"0000120209" "00001847" "70" "5161" "0" "5162" "0" "c.5161_5162del" "r.(?)" "p.(Thr1721Hisfs*65)" "36"
"0000120210" "00001847" "90" "5196" "1" "5196" "1" "c.5196+1G>A" "r.spl" "p.?" "36i"
"0000120211" "00001847" "90" "247" "0" "250" "0" "c.247_250dup" "r.(?)" "p.(Ser84Thrfs*16)" "3"
"0000120212" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000120213" "00001847" "70" "5222" "0" "5232" "0" "c.5222_5232del" "r.(?)" "p.(Leu1741Hisfs*42)" "37"
"0000120214" "00001847" "50" "5316" "0" "5316" "0" "c.5316G>A" "r.(?)" "p.(Trp1772*)" "38"
"0000120215" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000120216" "00001847" "70" "5836" "-2" "5836" "-2" "c.5836-2del" "r.spl" "p.?" "41i"
"0000120217" "00001847" "90" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973*)" "43"
"0000120218" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000120219" "00001847" "70" "6300" "0" "6300" "0" "c.6300del" "r.(?)" "p.(Met2101Trpfs*14)" "46"
"0000120220" "00001847" "90" "161" "0" "161" "0" "c.161G>A" "r.(?)" "p.(Cys54Tyr)" "3"
"0000120221" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000120222" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000120223" "00001847" "70" "161" "0" "161" "0" "c.161G>A" "r.(?)" "p.(Cys54Tyr)" "3"
"0000120224" "00001847" "90" "2804" "0" "2804" "0" "c.2804T>C" "r.(?)" "p.(Val935Ala)" "19"
"0000120225" "00001847" "70" "161" "0" "161" "0" "c.161G>A" "r.(?)" "p.(Cys54Tyr)" "3"
"0000120226" "00001847" "70" "3602" "0" "3602" "0" "c.3602T>G" "r.(?)" "p.(Leu1201Arg)" "24"
"0000120227" "00001847" "30" "174" "0" "174" "0" "c.174C>G" "r.(?)" "p.(Asn58Lys)" "3"
"0000120228" "00001847" "70" "3602" "0" "3602" "0" "c.3602T>G" "r.(?)" "p.(Leu1201Arg)" "24"
"0000120229" "00001847" "30" "174" "0" "174" "0" "c.174C>G" "r.(?)" "p.(Asn58Lys)" "3"
"0000120230" "00001847" "70" "3602" "0" "3602" "0" "c.3602T>G" "r.(?)" "p.(Leu1201Arg)" "24"
"0000120231" "00001847" "30" "174" "0" "174" "0" "c.174C>G" "r.(?)" "p.(Asn58Lys)" "3"
"0000120232" "00001847" "50" "179" "0" "179" "0" "c.179C>T" "r.(?)" "p.(Ala60Val)" "3"
"0000120233" "00001847" "50" "194" "0" "194" "0" "c.194G>A" "r.(?)" "p.(Gly65Glu)" "3"
"0000120234" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000120235" "00001847" "70" "570" "0" "570" "0" "c.570G>C" "r.spl?" "p.(Gln190His)" "5"
"0000120236" "00001847" "70" "731" "0" "731" "0" "c.731T>C" "r.(?)" "p.(Leu244Pro)" "6"
"0000120237" "00001847" "70" "731" "0" "731" "0" "c.731T>C" "r.(?)" "p.(Leu244Pro)" "6"
"0000120238" "00001847" "70" "731" "0" "731" "0" "c.731T>C" "r.(?)" "p.(Leu244Pro)" "6"
"0000120239" "00001847" "70" "731" "0" "731" "0" "c.731T>C" "r.(?)" "p.(Leu244Pro)" "6"
"0000120240" "00001847" "70" "731" "0" "731" "0" "c.731T>C" "r.(?)" "p.(Leu244Pro)" "6"
"0000120241" "00001847" "70" "5537" "0" "5537" "0" "c.5537T>C" "r.(?)" "p.(Ile1846Thr)" "39"
"0000120242" "00001847" "70" "1574" "0" "1574" "0" "c.1574T>G" "r.(?)" "p.(Phe525Cys)" "12"
"0000120243" "00001847" "70" "1609" "0" "1609" "0" "c.1609C>T" "r.(?)" "p.(Arg537Cys)" "12"
"0000120244" "00001847" "70" "2966" "0" "2966" "0" "c.2966T>C" "r.(?)" "p.(Val989Ala)" "20"
"0000120245" "00001847" "70" "1609" "0" "1609" "0" "c.1609C>T" "r.(?)" "p.(Arg537Cys)" "12"
"0000120246" "00001847" "70" "2966" "0" "2966" "0" "c.2966T>C" "r.(?)" "p.(Val989Ala)" "20"
"0000120247" "00001847" "90" "1609" "0" "1609" "0" "c.1609C>T" "r.(?)" "p.(Arg537Cys)" "12"
"0000120248" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000120249" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000120250" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000120251" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000120252" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000120253" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000120254" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.spl?" "p.(Gly863Ala)" "17"
"0000120255" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000120256" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000120257" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.spl?" "p.(Gly863Ala)" "17"
"0000120258" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000120259" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000120260" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000120261" "00001847" "70" "1645" "0" "1645" "0" "c.1645G>C" "r.(?)" "p.(Ala549Pro)" "12"
"0000120262" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000120263" "00001847" "70" "1645" "0" "1645" "0" "c.1645G>C" "r.(?)" "p.(Ala549Pro)" "12"
"0000120264" "00001847" "70" "1648" "0" "1648" "0" "c.1648G>A" "r.(?)" "p.(Gly550Arg)" "12"
"0000120265" "00001847" "70" "1927" "0" "1927" "0" "c.1927G>A" "r.(?)" "p.(Val643Met)" "13"
"0000120266" "00001847" "30" "1805" "0" "1805" "0" "c.1805G>A" "r.(?)" "p.(Arg602Gln)" "13"
"0000120267" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000120268" "00001847" "70" "1819" "0" "1819" "0" "c.1819G>A" "r.(?)" "p.(Gly607Arg)" "13"
"0000120269" "00001847" "70" "2300" "0" "2300" "0" "c.2300T>A" "r.(?)" "p.(Val767Asp)" "15"
"0000120270" "00001847" "70" "4457" "0" "4457" "0" "c.4457C>T" "r.(?)" "p.(Pro1486Leu)" "30"
"0000120271" "00001847" "30" "2300" "0" "2300" "0" "c.2300T>A" "r.(?)" "p.(Val767Asp)" "15"
"0000120272" "00001847" "70" "4685" "0" "4685" "0" "c.4685T>C" "r.(?)" "p.(Ile1562Thr)" "33"
"0000120273" "00001847" "70" "4457" "0" "4457" "0" "c.4457C>T" "r.(?)" "p.(Pro1486Leu)" "30"
"0000120274" "00001847" "70" "2390" "0" "2390" "0" "c.2390T>C" "r.(?)" "p.(Leu797Pro)" "16"
"0000120275" "00001847" "50" "2461" "0" "2461" "0" "c.2461T>A" "r.(?)" "p.(Trp821Arg)" "16"
"0000120276" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000120277" "00001847" "70" "2470" "0" "2470" "0" "c.2470A>G" "r.(?)" "p.(Ile824Val)" "16"
"0000120278" "00001847" "50" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000120279" "00001847" "50" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000120280" "00001847" "90" "4462" "0" "4462" "0" "c.4462T>C" "r.(?)" "p.(Cys1488Arg)" "30"
"0000120281" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000120282" "00001847" "90" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" "31"
"0000120283" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000120284" "00001847" "70" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000120285" "00001847" "70" "2827" "0" "2827" "0" "c.2827C>T" "r.(?)" "p.(Arg943Trp)" "19"
"0000120286" "00001847" "50" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000120287" "00001847" "50" "3364" "0" "3364" "0" "c.3364G>A" "r.(?)" "p.(Glu1122Lys)" "23"
"0000120288" "00001847" "50" "3364" "0" "3364" "0" "c.3364G>A" "r.(?)" "p.(Glu1122Lys)" "23"
"0000120289" "00001847" "50" "3899" "0" "3899" "0" "c.3899G>A" "r.(?)" "p.(Arg1300Gln)" "27"
"0000120290" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000120291" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000120292" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000120293" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000120294" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000120295" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000120296" "00001847" "50" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000120297" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000120298" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000120299" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000120300" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000120301" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000120302" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000120303" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000120304" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000120305" "00001847" "70" "4222" "0" "4222" "0" "c.4222T>C" "r.(?)" "p.(Trp1408Arg)" "28"
"0000120306" "00001847" "70" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" "35"
"0000120307" "00001847" "70" "4222" "0" "4222" "0" "c.4222T>C" "r.(?)" "p.(Trp1408Arg)" "28"
"0000120308" "00001847" "70" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" "35"
"0000120309" "00001847" "70" "4594" "0" "4594" "0" "c.4594G>A" "r.(?)" "p.(Asp1532Asn)" "31"
"0000120310" "00001847" "70" "4457" "0" "4457" "0" "c.4457C>T" "r.(?)" "p.(Pro1486Leu)" "30"
"0000120311" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000120312" "00001847" "70" "5537" "0" "5537" "0" "c.5537T>C" "r.(?)" "p.(Ile1846Thr)" "39"
"0000120313" "00001847" "70" "6415" "0" "6415" "0" "c.6415C>T" "r.(?)" "p.(Arg2139Trp)" "47"
"0000120314" "00001847" "70" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" "31"
"0000120315" "00001847" "50" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" "31"
"0000120316" "00001847" "50" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" "31"
"0000120317" "00001847" "70" "4594" "0" "4594" "0" "c.4594G>A" "r.(?)" "p.(Asp1532Asn)" "31"
"0000120318" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000120319" "00001847" "50" "4594" "0" "4594" "0" "c.4594G>A" "r.(?)" "p.(Asp1532Asn)" "31"
"0000120320" "00001847" "70" "4919" "0" "4919" "0" "c.4919G>A" "r.(?)" "p.(Arg1640Gln)" "35"
"0000120321" "00001847" "70" "4919" "0" "4919" "0" "c.4919G>A" "r.(?)" "p.(Arg1640Gln)" "35"
"0000120322" "00001847" "70" "4919" "0" "4919" "0" "c.4919G>A" "r.(?)" "p.(Arg1640Gln)" "35"
"0000120323" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000120324" "00001847" "70" "5327" "0" "5327" "0" "c.5327C>T" "r.(?)" "p.(Pro1776Leu)" "38"
"0000120325" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000120326" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000120327" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000120328" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000120329" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000120330" "00001847" "70" "5929" "0" "5929" "0" "c.5929G>A" "r.(?)" "p.(Gly1977Ser)" "43"
"0000120331" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000120332" "00001847" "70" "5929" "0" "5929" "0" "c.5929G>A" "r.(?)" "p.(Gly1977Ser)" "43"
"0000120333" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000120334" "00001847" "50" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000120335" "00001847" "50" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000120336" "00001847" "50" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" "44"
"0000120337" "00001847" "50" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" "44"
"0000120338" "00001847" "50" "6104" "0" "6104" "0" "c.6104T>C" "r.(?)" "p.(Leu2035Pro)" "44"
"0000120339" "00001847" "50" "6148" "0" "6148" "0" "c.6148G>C" "r.(?)" "p.(Val2050Leu)" "45"
"0000120340" "00001847" "50" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000120341" "00001847" "50" "6437" "0" "6437" "0" "c.6437G>A" "r.(?)" "p.(Gly2146Asp)" "47"
"0000120342" "00001847" "70" "6449" "0" "6449" "0" "c.6449G>A" "r.(?)" "p.(Cys2150Tyr)" "47"
"0000120343" "00001847" "70" "6449" "0" "6449" "0" "c.6449G>A" "r.(?)" "p.(Cys2150Tyr)" "47"
"0000120344" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000120345" "00001847" "90" "6448" "0" "6448" "0" "c.6448T>C" "r.(?)" "p.(Cys2150Arg)" "47"
"0000120346" "00001847" "50" "38" "0" "46" "0" "c.38_46del" "r.(?)" "p.(Lys13_Trp15del)" "1"
"0000120347" "00001847" "50" "38" "0" "46" "0" "c.38_46del" "r.(?)" "p.(Lys13_Trp15del)" "1"
"0000120348" "00001847" "70" "5338" "0" "5338" "0" "c.5338C>G" "r.(?)" "p.(Pro1780Ala)" "38"
"0000120349" "00001847" "70" "1018" "0" "1018" "0" "c.1018T>G" "r.(?)" "p.(Tyr340Asp)" "8"
"0000120350" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000120351" "00001847" "70" "1018" "0" "1018" "0" "c.1018T>G" "r.(?)" "p.(Tyr340Asp)" "8"
"0000120352" "00001847" "90" "1715" "0" "1715" "0" "c.1715G>A" "r.(?)" "p.(Arg572Gln)" "12"
"0000120353" "00001847" "90" "1018" "0" "1018" "0" "c.1018T>G" "r.(?)" "p.(Tyr340Asp)" "8"
"0000120354" "00001847" "70" "1715" "0" "1715" "0" "c.1715G>A" "r.(?)" "p.(Arg572Gln)" "12"
"0000120355" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>A" "r.(?)" "p.[(Gly863Ala, Gly863del)]" "17"
"0000120356" "00001847" "70" "2828" "0" "2828" "0" "c.2828G>A" "r.(?)" "p.(Arg943Gln)" "19"
"0000120357" "00001847" "90" "1018" "0" "1018" "0" "c.1018T>G" "r.(?)" "p.(Tyr340Asp)" "8"
"0000120358" "00001847" "70" "1715" "0" "1715" "0" "c.1715G>A" "r.(?)" "p.(Arg572Gln)" "12"
"0000120359" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>A" "r.(?)" "p.[(Gly863Ala, Gly863del)]" "17"
"0000120360" "00001847" "70" "2828" "0" "2828" "0" "c.2828G>A" "r.(?)" "p.(Arg943Gln)" "19"
"0000120361" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.spl" "p.[(Gly863Ala,Gly863del)]" "17"
"0000120362" "00001847" "90" "5196" "1" "5196" "1" "c.5196+1G>A" "r.spl" "p.?" "36i"
"0000120363" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.spl?" "p.[(Gly863Ala,Gly863del)]" "17"
"0000120364" "00001847" "90" "5196" "1" "5196" "1" "c.5196+1G>A" "r.spl" "p.?" "36i"
"0000120365" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000120366" "00001847" "30" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.(Gly863Ala)" "17"
"0000120367" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000120368" "00001847" "30" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.(Gly863Ala)" "17"
"0000120369" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.?" "40i"
"0000120370" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000120371" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000120372" "00001847" "90" "5898" "1" "5898" "1" "c.5898+1G>T" "r.spl" "p.?" "42i"
"0000120373" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000120374" "00001847" "30" "1715" "0" "1715" "0" "c.1715G>C" "r.(?)" "p.(Arg572Pro)" "12"
"0000120375" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000120376" "00001847" "30" "3212" "0" "3212" "0" "c.3212C>T" "r.(?)" "p.(Ser1071Leu)" "22"
"0000120377" "00001847" "30" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000120378" "00001847" "30" "5908" "0" "5908" "0" "c.5908C>T" "r.(?)" "p.(Leu1970Phe)" "43"
"0000120379" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000120380" "00001847" "30" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000120381" "00001847" "30" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000120382" "00001847" "30" "5693" "0" "5693" "0" "c.5693G>A" "r.(?)" "p.(Arg1898His)" "40"
"0000120383" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000120384" "00001847" "30" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000120385" "00001847" "30" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000120386" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000120387" "00001847" "30" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000120388" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000120389" "00001847" "70" "4222" "0" "4222" "0" "c.4222T>C" "r.(?)" "p.(Trp1408Arg)" "28"
"0000120390" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000120391" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000120392" "00001847" "70" "3364" "0" "3364" "0" "c.3364G>A" "r.(?)" "p.(Glu1122Lys)" "23"
"0000120393" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000120394" "00001847" "70" "2005" "0" "2006" "0" "c.2005_2006del" "r.(?)" "p.(Met669Aspfs*96)" "14"
"0000120395" "00001847" "70" "4594" "0" "4594" "0" "c.4594G>A" "r.(?)" "p.(Asp1532Asn)" "31"
"0000120396" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000120397" "00001847" "70" "2461" "0" "2461" "0" "c.2461T>A" "r.(?)" "p.(Trp821Arg)" "16"
"0000120398" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000120399" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000120400" "00001847" "70" "223" "0" "223" "0" "c.223T>G" "r.(?)" "p.(Cys75Gly)" "3"
"0000120401" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000120402" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000120403" "00001847" "70" "4253" "5" "4253" "5" "c.4253+5G>T" "r.spl" "p.?" "28i"
"0000120404" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000120405" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000120406" "00001847" "70" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000120407" "00001847" "70" "6445" "0" "6445" "0" "c.6445C>T" "r.(?)" "p.(Arg2149*)" "47"
"0000120408" "00001847" "90" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000120409" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000120410" "00001847" "70" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" "31"
"0000120411" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000120412" "00001847" "70" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" "31"
"0000120413" "00001847" "70" "4594" "0" "4594" "0" "c.4594G>A" "r.(?)" "p.(Asp1532Asn)" "31"
"0000120414" "00001847" "70" "71" "0" "71" "0" "c.71G>A" "r.(?)" "p.(Arg24His)" "2"
"0000120415" "00001847" "70" "4594" "0" "4594" "0" "c.4594G>A" "r.(?)" "p.(Asp1532Asn)" "31"
"0000120416" "00001847" "70" "71" "0" "71" "0" "c.71G>A" "r.(?)" "p.(Arg24His)" "2"
"0000120417" "00001847" "70" "4222" "0" "4222" "0" "c.4222T>C" "r.(?)" "p.(Trp1408Arg)" "28"
"0000120418" "00001847" "70" "71" "0" "71" "0" "c.71G>A" "r.(?)" "p.(Arg24His)" "2"
"0000120419" "00001847" "70" "4222" "0" "4222" "0" "c.4222T>C" "r.(?)" "p.(Trp1408Arg)" "28"
"0000120420" "00001847" "70" "4594" "0" "4594" "0" "c.4594G>A" "r.(?)" "p.(Asp1532Asn)" "31"
"0000120421" "00001847" "70" "4222" "0" "4222" "0" "c.4222T>C" "r.(?)" "p.(Trp1408Arg)" "28"
"0000120422" "00001847" "70" "71" "0" "71" "0" "c.71G>A" "r.(?)" "p.(Arg24His)" "2"
"0000120423" "00001847" "70" "4222" "0" "4222" "0" "c.4222T>C" "r.(?)" "p.(Trp1408Arg)" "28"
"0000120424" "00001847" "70" "4594" "0" "4594" "0" "c.4594G>A" "r.(?)" "p.(Asp1532Asn)" "31"
"0000120425" "00001847" "50" "5693" "0" "5693" "0" "c.5693G>A" "r.(?)" "p.(Arg1898His)" "40"
"0000120426" "00001847" "50" "746" "0" "746" "0" "c.746A>G" "r.(?)" "p.(Asp249Gly)" "6"
"0000120427" "00001847" "50" "4216" "0" "4216" "0" "c.4216C>T" "r.(?)" "p.(His1406Tyr)" "28"
"0000120428" "00001847" "50" "6148" "0" "6148" "0" "c.6148G>C" "r.(?)" "p.[(Val2050Leu, ?)]" "45"
"0000120429" "00001847" "50" "3610" "0" "3610" "0" "c.3610G>A" "r.(?)" "p.(Asp1204Asn)" "25"
"0000120430" "00001847" "50" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000120431" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000120432" "00001847" "50" "5693" "0" "5693" "0" "c.5693G>A" "r.(?)" "p.(Arg943Gln)" "40"
"0000120433" "00001847" "50" "2884" "0" "2884" "0" "c.2884del" "r.(?)" "p.(Leu962TrpfsTer15)" "19"
"0000120434" "00001847" "50" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.?" "40i"
"0000120435" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.[(Gly863Ala, Gly863del)]" "17"
"0000120436" "00001847" "50" "5693" "0" "5693" "0" "c.5693G>A" "r.(?)" "p.(Arg1898His)" "40"
"0000120437" "00001847" "50" "1411" "0" "1411" "0" "c.1411G>A" "r.(?)" "p.(Glu471Lys)" "11"
"0000120438" "00001847" "50" "6391" "0" "6391" "0" "c.6391G>A" "r.(?)" "p.(Glu2131Lys)" "47"
"0000120439" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000120440" "00001847" "70" "1715" "0" "1715" "0" "c.1715G>A" "r.(?)" "p.(Arg572Gln)" "12"
"0000120441" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000120442" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000120443" "00001847" "70" "1715" "0" "1715" "0" "c.1715G>A" "r.(?)" "p.(Arg572Gln)" "12"
"0000120444" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>A" "r.(?)" "p.(Gly863Glu)" "17"
"0000120445" "00001847" "70" "2828" "0" "2828" "0" "c.2828G>A" "r.(?)" "p.(Arg943Gln)" "19"
"0000120446" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000120447" "00001847" "70" "1715" "0" "1715" "0" "c.1715G>A" "r.(?)" "p.(Arg572Gln)" "12"
"0000120448" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>A" "r.(?)" "p.(Gly863Glu)" "17"
"0000120449" "00001847" "70" "2828" "0" "2828" "0" "c.2828G>A" "r.(?)" "p.(Arg943Gln)" "19"
"0000120450" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000120451" "00001847" "50" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000120452" "00001847" "70" "1822" "0" "1822" "0" "c.1822T>A" "r.(?)" "p.(Phe608Ile)" "13"
"0000120453" "00001847" "70" "1933" "0" "1933" "0" "c.1933G>A" "r.(?)" "p.(Asp645Asn)" "13"
"0000120454" "00001847" "70" "4316" "0" "4316" "0" "c.4316G>A" "r.(?)" "p.(Gly1439Asp)" "29"
"0000120455" "00001847" "70" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" "31"
"0000120456" "00001847" "70" "658" "0" "658" "0" "c.658C>T" "r.(?)" "p.(Arg220Cys)" "6"
"0000120457" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000120458" "00001847" "30" "4532" "0" "4532" "0" "c.4532C>G" "r.(?)" "p.(Pro1511Arg)" "30"
"0000120459" "00001847" "70" "6394" "0" "6394" "0" "c.6394G>A" "r.(?)" "p.(Glu2132Lys)" "47"
"0000120460" "00001847" "90" "6445" "0" "6445" "0" "c.6445C>T" "r.(?)" "p.(Arg2149*)" "47"
"0000120461" "00001847" "90" "6445" "0" "6445" "0" "c.6445C>T" "r.(?)" "p.(Arg2149*)" "47"
"0000120462" "00001847" "90" "5892" "0" "5892" "0" "c.5892del" "r.(?)" "p.(G1965Efs*9)" "42"
"0000120463" "00001847" "70" "4793" "0" "4793" "0" "c.4793C>A" "r.(?)" "p.(Ala1598Asp)" "34"
"0000120464" "00001847" "50" "4234" "0" "4234" "0" "c.4234C>T" "r.(?)" "p.(Gln1412*)" "28"
"0000120465" "00001847" "70" "1924" "0" "1924" "0" "c.1924T>C" "r.(?)" "p.(Phe642Leu)" "13"
"0000120466" "00001847" "90" "1554" "1" "1554" "1" "c.1554+1G>C" "r.spl" "p.?" "11i"
"0000120467" "00001847" "70" "3259" "0" "3259" "0" "c.3259G>A" "r.(?)" "p.(Glu1087Lys)" "22"
"0000120468" "00001847" "70" "4919" "0" "4919" "0" "c.4919G>A" "r.(?)" "p.(Arg1640Gln)" "35"
"0000120469" "00001847" "70" "4919" "0" "4919" "0" "c.4919G>A" "r.(?)" "p.(Arg1640Gln)" "35"
"0000120470" "00001847" "70" "4919" "0" "4919" "0" "c.4919G>A" "r.(?)" "p.(Arg1640Gln)" "35"
"0000120471" "00001847" "50" "4837" "0" "4837" "0" "c.4837G>A" "r.(?)" "p.(Asp1613Asn)" "34"
"0000120472" "00001847" "90" "5318" "0" "5318" "0" "c.5318C>T" "r.(?)" "p.(Ala1773Val)" "38"
"0000120473" "00001847" "70" "1302" "0" "1302" "0" "c.1302del" "r.(?)" "p.(Gln437Argfs*12)" "10"
"0000120474" "00001847" "70" "2034" "0" "2034" "0" "c.2034G>T" "r.(?)" "p.(Lys678Asn)" "14"
"0000120475" "00001847" "70" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" "44"
"0000120476" "00001847" "70" "3607" "3" "3607" "3" "c.3607+3A>T" "r.spl?" "p.(?)" "24i"
"0000120477" "00001847" "90" "5892" "0" "5892" "0" "c.5892del" "r.(?)" "p.(Gly1965Glufs*9)" "42"
"0000120478" "00001847" "70" "3056" "0" "3056" "0" "c.3056C>T" "r.(?)" "p.(Thr1019Met)" "21"
"0000120479" "00001847" "90" "2463" "0" "2463" "0" "c.2463G>A" "r.(?)" "p.(Trp821*)" "21"
"0000120480" "00001847" "90" "4546" "0" "4547" "0" "c.4546_4547del" "r.(?)" "p.(Gln1516Alafs*38)" "31"
"0000120481" "00001847" "90" "327" "0" "327" "0" "c.327dup" "r.(?)" "p.(Gln110Serfs*51)" "4"
"0000120482" "00001847" "90" "3295" "0" "3295" "0" "c.3295T>C" "r.(?)" "p.(Ser1099Pro)" "22"
"0000120483" "00001847" "70" "327" "0" "327" "0" "c.327dup" "r.(?)" "p.(Gln110Serfs*51)" "4"
"0000120484" "00001847" "90" "3295" "0" "3295" "0" "c.3295T>C" "r.(?)" "p.(Ser1099Pro)" "22"
"0000120485" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000120486" "00001847" "70" "5196" "1" "5196" "1" "c.5196+1G>A" "r.spl" "p.?" "36i"
"0000120487" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000120488" "00001847" "50" "1140" "0" "1140" "0" "c.1140T>A" "r.(?)" "p.(Asn380Lys)" "9"
"0000120489" "00001847" "50" "2546" "0" "2546" "0" "c.2546T>C" "r.(?)" "p.(Val849Ala)" "16"
"0000120490" "00001847" "50" "2690" "0" "2690" "0" "c.2690C>T" "r.(?)" "p.(Thr897Ile)" "18"
"0000120491" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000120492" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000120493" "00001847" "50" "3385" "0" "3385" "0" "c.3385C>T" "r.(?)" "p.(Arg1129Cys)" "23"
"0000120494" "00001847" "50" "6519" "0" "6529" "0" "c.6519_6529del" "r.(?)" "p.(Lys2175Alafs*3)" "48"
"0000120495" "00001847" "90" "1848" "0" "1848" "0" "c.1848del" "r.(?)" "p.(Glu616Aspfs*33)" "13"
"0000120496" "00001847" "90" "3523" "-28" "3523" "-28" "c.3523-28T>C" "r.(?)" "p.(=)" "23i"
"0000120497" "00001847" "50" "5584" "34" "5584" "34" "c.5584+34C>T" "r.(?)" "p.(=)" "39i"
"0000120498" "00001847" "90" "1848" "0" "1848" "0" "c.1848del" "r.(?)" "p.(Glu616Aspfs*33)" "13"
"0000120499" "00001847" "90" "3523" "-28" "3523" "-28" "c.3523-28T>C" "r.(?)" "p.(=)" "23i"
"0000120500" "00001847" "50" "5584" "34" "5584" "34" "c.5584+34C>T" "r.(?)" "p.(=)" "39i"
"0000120501" "00001847" "90" "1848" "0" "1848" "0" "c.1848del" "r.(?)" "p.(Glu616Aspfs*33)" "13"
"0000120502" "00001847" "90" "3523" "-28" "3523" "-28" "c.3523-28T>C" "r.(?)" "p.(=)" "23i"
"0000120503" "00001847" "50" "5584" "34" "5584" "34" "c.5584+34C>T" "r.(?)" "p.(=)" "39i"
"0000120504" "00001847" "90" "1848" "0" "1848" "0" "c.1848del" "r.(?)" "p.(Glu616Aspfs*33)" "13"
"0000120505" "00001847" "90" "3523" "-28" "3523" "-28" "c.3523-28T>C" "r.(?)" "p.(=)" "23i"
"0000120506" "00001847" "50" "5584" "34" "5584" "34" "c.5584+34C>T" "r.(?)" "p.(=)" "39i"
"0000120507" "00001847" "90" "1848" "0" "1848" "0" "c.1848del" "r.(?)" "p.(Glu616Aspfs*33)" "13"
"0000120508" "00001847" "90" "3523" "-28" "3523" "-28" "c.3523-28T>C" "r.(?)" "p.(=)" "23i"
"0000120509" "00001847" "50" "5584" "34" "5584" "34" "c.5584+34C>T" "r.(?)" "p.(=)" "39i"
"0000120510" "00001847" "90" "1848" "0" "1848" "0" "c.1848del" "r.(?)" "p.(Glu616Aspfs*33)" "13"
"0000120511" "00001847" "90" "3523" "-28" "3523" "-28" "c.3523-28T>C" "r.(?)" "p.(=)" "23i"
"0000120512" "00001847" "50" "5584" "34" "5584" "34" "c.5584+34C>T" "r.(?)" "p.(=)" "39i"
"0000120513" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.?" "40i"
"0000120514" "00001847" "90" "4539" "1" "4539" "1" "c.4539+1G>T" "r.spl" "p.?" "30i"
"0000120515" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.?" "40i"
"0000120516" "00001847" "90" "4539" "1" "4539" "1" "c.4539+1G>T" "r.spl" "p.?" "30i"
"0000120517" "00001847" "90" "4539" "1" "4539" "1" "c.4539+1G>T" "r.spl" "p.?" "30i"
"0000120518" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.?" "40i"
"0000120519" "00001847" "90" "4539" "1" "4539" "1" "c.4539+1G>T" "r.spl" "p.?" "30i"
"0000120520" "00001847" "90" "4539" "1" "4539" "1" "c.4539+1G>T" "r.spl" "p.?" "30i"
"0000120521" "00001847" "90" "4539" "1" "4539" "1" "c.4539+1G>T" "r.spl" "p.?" "30i"
"0000120522" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.?" "40i"
"0000120523" "00001847" "90" "4539" "1" "4539" "1" "c.4539+1G>T" "r.spl" "p.?" "30i"
"0000120524" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.?" "40i"
"0000120525" "00001847" "90" "4539" "1" "4539" "1" "c.4539+1G>T" "r.spl" "p.?" "30i"
"0000120526" "00001847" "90" "4539" "1" "4539" "1" "c.4539+1G>T" "r.spl" "p.?" "30i"
"0000120527" "00001847" "50" "4539" "1" "4539" "1" "c.4539+1G>T" "r.spl" "p.?" "30i"
"0000120528" "00001847" "50" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.?" "40i"
"0000120529" "00001847" "50" "3106" "0" "3106" "0" "c.3106G>A" "r.(?)" "p.(Glu1036Lys)" "21"
"0000120530" "00001847" "70" "6009" "0" "6009" "0" "c.6009T>C" "r.(?)" "p.(Ile2003=)" "44"
"0000120531" "00001847" "50" "3106" "0" "3106" "0" "c.3106G>A" "r.(?)" "p.(Glu1036Lys)" "21"
"0000120532" "00001847" "70" "6009" "0" "6009" "0" "c.6009T>C" "r.(?)" "p.(Ile2003=)" "44"
"0000120533" "00001847" "50" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071Cysfs*14)" "22"
"0000120534" "00001847" "50" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071Cysfs*14)" "22"
"0000120535" "00001847" "50" "2565" "0" "2565" "0" "c.2565G>A" "r.(?)" "p.(Trp855*)" "16"
"0000120536" "00001847" "50" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000120537" "00001847" "50" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000120538" "00001847" "90" "571" "-2" "571" "-2" "c.571-2A>G" "r.spl" "p.?" "5i"
"0000120539" "00001847" "50" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000120540" "00001847" "70" "52" "0" "52" "0" "c.52C>T" "r.(?)" "p.(Arg18Trp)" "1"
"0000120541" "00001847" "70" "52" "0" "52" "0" "c.52C>T" "r.(?)" "p.(Arg18Trp)" "1"
"0000120542" "00001847" "90" "571" "-2" "571" "-2" "c.571-2A>G" "r.spl" "p.?" "5i"
"0000120543" "00001847" "50" "1938" "-2" "1938" "-2" "c.1938-2A>G" "r.spl" "p.?" "15i"
"0000120544" "00001847" "50" "4668" "-1" "4668" "-1" "c.4668-1G>A" "r.spl" "p.?" "32i"
"0000120545" "00001847" "70" "5196" "3" "5196" "8" "c.5196+3_5196+8del" "r.spl?" "p.(?)" "36i"
"0000120546" "00001847" "90" "1908" "0" "1908" "0" "c.1908G>T" "r.(?)" "p.(Gln636His)" "13"
"0000120547" "00001847" "50" "2571" "0" "2571" "0" "c.2571del" "r.(?)" "p.(Asp858Ilefs*43)" "16"
"0000120548" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000120549" "00001847" "30" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071Cysfs*14)" "22"
"0000120550" "00001847" "50" "3754" "0" "3754" "0" "c.3754G>T" "r.(?)" "p.(Glu1252*)" "25"
"0000120551" "00001847" "50" "3994" "0" "3994" "0" "c.3994C>T" "r.(?)" "p.(Gln1332*)" "27"
"0000120552" "00001847" "50" "6339" "0" "6339" "0" "c.6339C>G" "r.(?)" "p.(Ile2113Met)" "46"
"0000120553" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000120554" "00001847" "70" "6339" "0" "6339" "0" "c.6339C>G" "r.(?)" "p.(Ile2113Met)" "46"
"0000120555" "00001847" "50" "52" "0" "52" "0" "c.52C>T" "r.(?)" "p.(Arg18Trp)" "1"
"0000120556" "00001847" "50" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000120557" "00001847" "50" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000120558" "00001847" "50" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000120559" "00001847" "90" "5929" "0" "5929" "0" "c.5929G>A" "r.(?)" "p.(Gly1977Ser)" "43"
"0000120560" "00001847" "70" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000120561" "00001847" "50" "3056" "0" "3056" "0" "c.3056C>T" "r.(?)" "p.(Thr1019Met)" "21"
"0000120562" "00001847" "30" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000120563" "00001847" "70" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000120564" "00001847" "70" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" "35"
"0000120565" "00001847" "50" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" "35"
"0000120566" "00001847" "50" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000120567" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000120568" "00001847" "50" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000120569" "00001847" "50" "32" "0" "32" "0" "c.32T>C" "r.(?)" "p.(Leu11Pro)" "1"
"0000120570" "00001847" "50" "3272" "0" "3272" "0" "c.3272G>A" "r.(?)" "p.(Gly1091Glu)" "22"
"0000120571" "00001847" "50" "4522" "0" "4522" "0" "c.4522G>T" "r.(?)" "p.(Gly1508Cys)" "30"
"0000120572" "00001847" "70" "5908" "0" "5908" "0" "c.5908C>T" "r.(?)" "p.(Leu1970Phe)" "43"
"0000120573" "00001847" "30" "5912" "0" "5912" "0" "c.5912T>G" "r.(?)" "p.(Leu1971Arg)" "43"
"0000120574" "00001847" "70" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000120575" "00001847" "70" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000120576" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000120577" "00001847" "70" "247" "0" "250" "0" "c.247_250dup" "r.(?)" "p.(Ser84Thrfs*16)" "3"
"0000120578" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000120579" "00001847" "70" "247" "0" "250" "0" "c.247_250dup" "r.(?)" "p.(Ser84Thrfs*16)" "3"
"0000120580" "00001847" "90" "5018" "2" "5018" "2" "c.5018+2T>C" "r.spl?" "p.(?)" "35i"
"0000120581" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000120582" "00001847" "70" "4919" "0" "4919" "0" "c.4919G>A" "r.(?)" "p.(Arg1640Gln)" "35"
"0000120583" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000120584" "00001847" "70" "4919" "0" "4919" "0" "c.4919G>A" "r.(?)" "p.(Arg1640Gln)" "35"
"0000120585" "00001847" "70" "3259" "0" "3259" "0" "c.3259G>A" "r.(?)" "p.(Glu1087Lys)" "22"
"0000120586" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000120587" "00001847" "90" "2300" "0" "2300" "0" "c.2300T>A" "r.(?)" "p.(Val767Asp)" "15"
"0000120588" "00001847" "70" "247" "0" "250" "0" "c.247_250dup" "r.(?)" "p.(Ser84Thrfs*16)" "3"
"0000120589" "00001847" "50" "2690" "0" "2690" "0" "c.2690C>T" "r.(?)" "p.(Thr897Ile)" "18"
"0000120590" "00001847" "50" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000120591" "00001847" "50" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000120592" "00001847" "50" "5018" "2" "5018" "2" "c.5018+2T>C" "r.spl?" "p.(?)" "35i"
"0000120593" "00001847" "50" "5018" "2" "5018" "2" "c.5018+2T>C" "r.spl?" "p.(?)" "35i"
"0000120594" "00001847" "50" "4195" "0" "4195" "0" "c.4195G>A" "r.(?)" "p.(Glu1399Lys)" "28"
"0000120595" "00001847" "50" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(?)" "p.(?)" "38i"
"0000120596" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000120597" "00001847" "50" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000120598" "00001847" "50" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" "35"
"0000120599" "00001847" "70" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.(?)" "38i"
"0000120600" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000120601" "00001847" "50" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000120602" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.?" "40i"
"0000120603" "00001847" "90" "5196" "2" "5196" "2" "c.5196+2T>C" "r.spl?" "p.?" "36i"
"0000120604" "00001847" "70" "2300" "0" "2300" "0" "c.2300T>A" "r.(?)" "p.(Val767Asp)" "15"
"0000120605" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000120606" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000120607" "00001847" "50" "52" "0" "52" "0" "c.52C>T" "r.(?)" "p.(Arg18Trp)" "1"
"0000120608" "00001847" "50" "70" "0" "70" "0" "c.70C>T" "r.(?)" "p.(Arg24Cys)" "2"
"0000120609" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000120610" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.spl" "p.[(Gly863Ala,Gly863del)]" "17"
"0000120611" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000120612" "00001847" "50" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000120613" "00001847" "50" "481" "0" "481" "0" "c.481G>A" "r.(?)" "p.(Glu161Lys)" "5"
"0000120614" "00001847" "50" "1789" "0" "1789" "0" "c.1789C>T" "r.(?)" "p.(Pro597Ser)" "13"
"0000120615" "00001847" "50" "3259" "0" "3259" "0" "c.3259G>A" "r.(?)" "p.(Glu1087Lys)" "22"
"0000120616" "00001847" "70" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.(?)" "38i"
"0000120617" "00001847" "50" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000120618" "00001847" "50" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000120619" "00001847" "50" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.(?)" "6"
"0000120620" "00001847" "90" "194" "0" "194" "0" "c.194G>A" "r.(?)" "p.(Gly65Glu)" "3"
"0000120621" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.spl" "p.[(Gly863Ala,Gly863del)]" "17"
"0000120622" "00001847" "50" "1853" "0" "1853" "0" "c.1853G>A" "r.(?)" "p.(Gly618Glu)" "13"
"0000120623" "00001847" "90" "4297" "0" "4297" "0" "c.4297G>A" "r.(?)" "p.(Val1433Ile)" "29"
"0000120624" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.spl" "p.[(Gly863Ala,Gly863del)]" "17"
"0000120625" "00001847" "50" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.(?)" "6"
"0000120626" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.(?)" "38i"
"0000120627" "00001847" "50" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.(?)" "6"
"0000120628" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.spl" "p.[(Gly863Ala,Gly863del)]" "17"
"0000120629" "00001847" "90" "5888" "0" "5888" "0" "c.5888del" "r.(?)" "p.(Arg1963Profs*11)" "42"
"0000120630" "00001847" "50" "6529" "0" "6529" "0" "c.6529G>A" "r.(?)" "p.(Asp2177Asn)" "48"
"0000120631" "00001847" "50" "6529" "0" "6529" "0" "c.6529G>A" "r.(?)" "p.(Asp2177Asn)" "48"
"0000120632" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000120633" "00001847" "50" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000120634" "00001847" "50" "6148" "0" "6148" "0" "c.6148G>C" "r.(?)" "p.(?)" "45"
"0000120635" "00001847" "90" "161" "0" "161" "0" "c.161G>A" "r.(?)" "p.(Cys54Tyr)" "3"
"0000120636" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000120637" "00001847" "90" "161" "0" "161" "0" "c.161G>A" "r.(?)" "p.(Cys54Tyr)" "3"
"0000120638" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000120639" "00001847" "90" "161" "0" "161" "0" "c.161G>A" "r.(?)" "p.(Cys54Tyr)" "3"
"0000120640" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000120641" "00001847" "90" "161" "0" "161" "0" "c.161G>A" "r.(?)" "p.(Cys54Tyr)" "3"
"0000120642" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000120643" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000120644" "00001847" "70" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071Cysfs*14)" "22"
"0000120645" "00001847" "70" "4253" "5" "4253" "5" "c.4253+5G>A" "r.spl" "p.?" "28i"
"0000120646" "00001847" "90" "6179" "0" "6179" "0" "c.6179T>G" "r.(?)" "p.(Leu2060Arg)" "45"
"0000120647" "00001847" "70" "4253" "5" "4253" "5" "c.4253+5G>A" "r.spl" "p.?" "28i"
"0000120648" "00001847" "90" "6179" "0" "6179" "0" "c.6179T>G" "r.(?)" "p.(Leu2060Arg)" "45"
"0000120649" "00001847" "50" "455" "0" "455" "0" "c.455G>A" "r.(?)" "p.(Arg152Gln)" "5"
"0000120650" "00001847" "70" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000120651" "00001847" "50" "5819" "0" "5819" "0" "c.5819T>C" "r.(?)" "p.(Leu1940Pro)" "41"
"0000120652" "00001847" "50" "5395" "0" "5395" "0" "c.5395A>G" "r.(?)" "p.(Asn1799Asp)" "38"
"0000120653" "00001847" "50" "2888" "0" "2888" "0" "c.2888del" "r.(?)" "p.(Asn1799Asp)" "19"
"0000120654" "00001847" "90" "5413" "0" "5413" "0" "c.5413A>G" "r.(?)" "p.(Asn1805Asp)" "38"
"0000120655" "00001847" "70" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000120656" "00001847" "70" "2057" "0" "2057" "0" "c.2057T>C" "r.(?)" "p.(Leu686Ser)" "14"
"0000120657" "00001847" "70" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000120658" "00001847" "70" "2057" "0" "2057" "0" "c.2057T>C" "r.(?)" "p.(Leu686Ser)" "14"
"0000120659" "00001847" "70" "3758" "0" "3758" "0" "c.3758C>T" "r.(?)" "p.(Thr1253Met)" "25"
"0000120660" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000120661" "00001847" "50" "5819" "0" "5819" "0" "c.5819T>C" "r.(?)" "p.(Leu1940Pro)" "41"
"0000120662" "00001847" "50" "899" "0" "899" "0" "c.899C>A" "r.(?)" "p.(Thr300Asn)" "8"
"0000120663" "00001847" "50" "4462" "0" "4462" "0" "c.4462T>C" "r.(?)" "p.(Cys1488Arg)" "30"
"0000120664" "00001847" "70" "6449" "0" "6449" "0" "c.6449G>A" "r.(?)" "p.(Cys2150Tyr)" "47"
"0000120665" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000120666" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000120667" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000120668" "00001847" "70" "194" "0" "194" "0" "c.194G>A" "r.(?)" "p.(Gly65Glu)" "3"
"0000120669" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000120670" "00001847" "70" "6229" "0" "6229" "0" "c.6229C>T" "r.(?)" "p.(Arg2077Trp)" "45"
"0000120671" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000120672" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000120673" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000120674" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000120675" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000120676" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000120677" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000120678" "00001847" "70" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000120679" "00001847" "30" "5186" "0" "5186" "0" "c.5186T>C" "r.(?)" "p.(Leu1729Pro)" "36"
"0000120680" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000120681" "00001847" "90" "5281" "0" "5289" "0" "c.5281_5289del" "r.(?)" "p.(Pro1761_Leu1763del) ?" "37"
"0000120682" "00001847" "70" "4537" "0" "4537" "0" "c.4537dup" "r.(?)" "p.(Gln1513Profs*42)" "30"
"0000120683" "00001847" "90" "179" "0" "179" "0" "c.179C>T" "r.(?)" "p.(Ala60Val)" "3"
"0000120684" "00001847" "70" "4537" "0" "4537" "0" "c.4537dup" "r.(?)" "p.(Gln1513Profs*42)" "30"
"0000120685" "00001847" "50" "2920" "0" "2920" "0" "c.2920T>C" "r.(?)" "p.(Ser974Pro)" "20"
"0000120686" "00001847" "50" "2884" "0" "2884" "0" "c.2884del" "r.(?)" "p.(Leu962Trpfs*15)" "19"
"0000120687" "00001847" "50" "2884" "0" "2884" "0" "c.2884del" "r.(?)" "p.(Ile505*)" "19"
"0000120688" "00001847" "50" "2546" "0" "2546" "0" "c.2546T>C" "r.(?)" "p.(Val849Ala)" "16"
"0000120689" "00001847" "30" "2546" "0" "2546" "0" "c.2546T>C" "r.(?)" "p.(Val849Ala)" "16"
"0000120690" "00001847" "30" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000120691" "00001847" "50" "6088" "0" "6088" "0" "c.6088C>T" "r.(?)" "p.(Arg2030*)" "44"
"0000120692" "00001847" "50" "6383" "0" "6383" "0" "c.6383A>G" "r.(?)" "p.(His2128Arg)" "46"
"0000120693" "00001847" "50" "6112" "0" "6112" "0" "c.6112C>T" "r.(?)" "p.(Arg2038Trp)" "44"
"0000120694" "00001847" "50" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000120695" "00001847" "70" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000120696" "00001847" "30" "4954" "0" "4954" "0" "c.4954T>G" "r.(?)" "p.(Tyr1652Asp)" "35"
"0000120697" "00001847" "50" "3607" "0" "3607" "0" "c.3607G>A" "r.(?)" "p.(Gly1203Arg)" "24"
"0000120698" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000120699" "00001847" "70" "4859" "0" "4864" "0" "c.4859_4864delinsTCCT" "r.(?)" "p.(Asn1620Ilefs*25)" "35"
"0000120700" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000120701" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000120702" "00001847" "70" "4538" "0" "4538" "0" "c.4538A>C" "r.(?)" "p.(Gln1513Pro)" "30"
"0000120703" "00001847" "70" "618" "0" "618" "0" "c.618C>G" "r.(?)" "p.(Ser206Arg)" "6"
"0000120704" "00001847" "30" "4223" "0" "4223" "0" "c.4223G>T" "r.(?)" "p.(Trp1408Leu)" "28"
"0000120705" "00001847" "50" "454" "0" "454" "0" "c.454C>T" "r.(?)" "p.(Arg152*)" "5"
"0000120706" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.spl?" "p.?" "17"
"0000120707" "00001847" "50" "2588" "0" "2588" "0" "c.2588G>C" "r.spl?" "p.?" "17"
"0000120708" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.spl?" "p.?" "17"
"0000120709" "00001847" "90" "2654" "-905" "2743" "35" "c.2654-905_2743+35del" "r.(?)" "p.(Gly885_His915del)" "17i_18i"
"0000120710" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.spl?" "p.?" "17"
"0000120711" "00001847" "90" "2654" "-905" "2743" "35" "c.2654-905_2743+35del" "r.(?)" "p.(Gly885_His915del)" "17i_18i"
"0000120712" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.spl?" "p.?" "17"
"0000120713" "00001847" "70" "1938" "-1" "1938" "-1" "c.1938-1G>A" "r.spl" "p.?" "13i"
"0000120714" "00001847" "90" "1938" "-1" "1938" "-1" "c.1938-1G>A" "r.spl" "p.?" "13i"
"0000120715" "00001847" "90" "1269" "0" "2587" "0" "c.(1269_2587)delN[?]" "r.?" "p.?" "10_16"
"0000120716" "00001847" "50" "6658" "0" "6658" "0" "c.6658C>T" "r.(?)" "p.(Gln2220*)" "48"
"0000120717" "00001847" "90" "4793" "0" "4793" "0" "c.4793C>A" "r.(?)" "p.(Ala1598Asp)" "34"
"0000120718" "00001847" "70" "6329" "0" "6329" "0" "c.6329G>A" "r.(?)" "p.(Trp2110*)" "46"
"0000120719" "00001847" "70" "4234" "0" "4234" "0" "c.4234C>T" "r.(?)" "p.(Gln1412*)" "28"
"0000120720" "00001847" "90" "6229" "0" "6229" "0" "c.6229C>T" "r.(?)" "p.(Arg2077Trp)" "45"
"0000120721" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000120722" "00001847" "70" "4234" "0" "4234" "0" "c.4234C>T" "r.(?)" "p.(Gln1412*)" "28"
"0000120723" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000120724" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000120725" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000120726" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000120727" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl?" "p.?" "40i"
"0000120728" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000120729" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000120730" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.[=,?]" "40i"
"0000120731" "00001847" "90" "1086" "0" "1086" "0" "c.1086T>A" "r.(?)" "p.(Tyr362*)" "8"
"0000120732" "00001847" "70" "2564" "0" "2564" "0" "c.2564G>A" "r.(?)" "p.(Trp855*)" "16"
"0000120733" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000120734" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000120735" "00001847" "90" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973*)" "43"
"0000120736" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000120737" "00001847" "70" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973*)" "43"
"0000120738" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.?" "40i"
"0000120739" "00001847" "90" "4463" "0" "4463" "0" "c.4463G>A" "r.(?)" "p.(Cys1488Tyr)" "30"
"0000120740" "00001847" "90" "5693" "0" "5693" "0" "c.5693G>A" "r.(?)" "p.(Arg1898His)" "40"
"0000120741" "00001847" "30" "2041" "0" "2041" "0" "c.2041C>T" "r.(?)" "p.(Arg681*)" "14"
"0000120742" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000120743" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000120744" "00001847" "90" "1937" "1" "1937" "1" "c.1937+1G>A" "r.spl" "p.?" "13i"
"0000120745" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000120746" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000120747" "00001847" "30" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000120748" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.?" "40i"
"0000120749" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000120750" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000120751" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000120752" "00001847" "70" "3187" "0" "3187" "0" "c.3187T>C" "r.(?)" "p.(Ser1063Pro)" "21"
"0000120753" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000120754" "00001847" "70" "5248" "0" "5248" "0" "c.5248C>T" "r.(?)" "p.(Gln1750*)" "37"
"0000120755" "00001847" "70" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000120756" "00001847" "70" "2876" "0" "2876" "0" "c.2876C>T" "r.(?)" "p.(Thr959Ile)" "19"
"0000120757" "00001847" "70" "1715" "0" "1715" "0" "c.1715G>A" "r.(?)" "p.(Arg572Gln)" "12"
"0000120758" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.[(Gly863Ala, Gly863del)]" "17"
"0000120759" "00001847" "90" "5018" "2" "5018" "2" "c.5018+2T>A" "r.spl" "p.?" "35i"
"0000120760" "00001847" "90" "2291" "0" "2291" "0" "c.2291G>A" "r.(?)" "p.(Cys764Tyr)" "15"
"0000120761" "00001847" "70" "3529" "0" "3532" "0" "c.3529_3532dup" "r.(?)" "p.(Ser1178Metfs*6)" "24"
"0000120762" "00001847" "70" "4289" "0" "4289" "0" "c.4289T>C" "r.(?)" "p.(Leu1430Pro)" "29"
"0000120763" "00001847" "90" "3898" "0" "3898" "0" "c.3898C>T" "r.(?)" "p.(Arg1300*)" "27"
"0000120764" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.[=,?]" "40i"
"0000120765" "00001847" "70" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000120766" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000120767" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000120768" "00001847" "70" "4234" "0" "4234" "0" "c.4234C>T" "r.(?)" "p.(Gln1412*)" "28"
"0000120769" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000120770" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000120771" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000120772" "00001847" "70" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.(?)" "6"
"0000120773" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000120774" "00001847" "70" "4328" "0" "4328" "0" "c.4328G>A" "r.(?)" "p.(Arg1443His)" "29"
"0000120775" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000120776" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000120777" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000120778" "00001847" "90" "5653" "0" "5653" "0" "c.5653G>A" "r.(?)" "p.(Glu1885Lys)" "40"
"0000120779" "00001847" "70" "4195" "0" "4195" "0" "c.4195G>A" "r.(?)" "p.(Glu1399Lys)" "28"
"0000120780" "00001847" "70" "5653" "0" "5653" "0" "c.5653G>A" "r.(?)" "p.(Glu1885Lys)" "40"
"0000120781" "00001847" "70" "5929" "0" "5929" "0" "c.5929G>A" "r.(?)" "p.(Gly1977Ser)" "43"
"0000120782" "00001847" "70" "4195" "0" "4195" "0" "c.4195G>A" "r.(?)" "p.(Glu1399Lys)" "28"
"0000120783" "00001847" "70" "5693" "0" "5693" "0" "c.5693G>A" "r.(?)" "p.(Arg1898His)" "40"
"0000120784" "00001847" "30" "5923" "0" "5923" "0" "c.5923G>C" "r.(?)" "p.(Gly1975Arg)" "43"
"0000120785" "00001847" "70" "5065" "0" "5065" "0" "c.5065T>C" "r.(?)" "p.(Ser1689Pro)" "36"
"0000120786" "00001847" "70" "203" "0" "203" "0" "c.203C>T" "r.(?)" "p.(Pro68Leu)" "3"
"0000120787" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.[=,?]" "40i"
"0000120788" "00001847" "90" "1903" "0" "1903" "0" "c.1903C>A" "r.(?)" "p.(Gln635Lys)" "13"
"0000120789" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000120790" "00001847" "70" "2292" "0" "2293" "0" "c.2292_2293delinsC" "r.(?)" "p.(Ser765Valfs*22)" "15"
"0000120791" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000120792" "00001847" "70" "6609" "0" "6609" "0" "c.6609C>A" "r.(?)" "p.(Tyr2203*)" "48"
"0000120793" "00001847" "90" "1937" "1" "1937" "1" "c.1937+1G>A" "r.spl" "p.?" "13i"
"0000120794" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000120795" "00001847" "70" "2041" "0" "2041" "0" "c.2041C>T" "r.(?)" "p.(Arg681*)" "14"
"0000120796" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000120797" "00001847" "70" "5693" "0" "5693" "0" "c.5693G>A" "r.(?)" "p.(Arg1898His)" "40"
"0000120798" "00001847" "30" "178" "0" "178" "0" "c.178G>A" "r.(?)" "p.(Ala60Thr)" "3"
"0000120799" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000120800" "00001847" "70" "296" "0" "296" "0" "c.296dup" "r.(?)" "p.(Asn99Lysfs*62)" "3"
"0000120801" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000120802" "00001847" "30" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000120803" "00001847" "30" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000120804" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000120805" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000120806" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000120807" "00001847" "70" "3050" "5" "3050" "5" "c.3050+5G>A" "r.spl" "p.?" "20i"
"0000120808" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000120809" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000120810" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000120811" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000120812" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000120813" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000120814" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000120815" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000120816" "00001847" "70" "1988" "0" "1988" "0" "c.1988G>A" "r.(?)" "p.(Trp663*)" "14"
"0000120817" "00001847" "70" "3050" "5" "3050" "5" "c.3050+5G>A" "r.spl" "p.?" "20i"
"0000120818" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000120819" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000120820" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000120821" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000120822" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000120823" "00001847" "70" "1819" "0" "1819" "0" "c.1819G>M" "r.(?)" "p.(Gly607Arg)" "13"
"0000120824" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000120825" "00001847" "30" "296" "0" "296" "0" "c.296dup" "r.(?)" "p.(Asn99Lysfs*62)" "3"
"0000120826" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000120827" "00001847" "90" "4234" "0" "4234" "0" "c.4234C>T" "r.(?)" "p.(Gln1412*)" "28"
"0000120828" "00001847" "90" "3050" "5" "3050" "5" "c.3050+5G>A" "r.spl" "p.?" "20i"
"0000120829" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000120830" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000120831" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000120832" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000120833" "00001847" "70" "1411" "0" "1411" "0" "c.1411G>A" "r.(?)" "p.(Glu471Lys)" "11"
"0000120834" "00001847" "30" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000120835" "00001847" "70" "4195" "0" "4195" "0" "c.4195G>A" "r.(?)" "p.(Glu1399Lys)" "28"
"0000120836" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000120837" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000120838" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000120839" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000120840" "00001847" "70" "5242" "0" "5242" "0" "c.5242G>A" "r.(?)" "p.(Gly1748Arg)" "37"
"0000120841" "00001847" "70" "4318" "0" "4318" "0" "c.4318T>G" "r.(?)" "p.(Phe1440Val)" "29"
"0000120842" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000120843" "00001847" "70" "688" "0" "688" "0" "c.688T>A" "r.(?)" "p.(Cys230Ser)" "6"
"0000120844" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000120845" "00001847" "90" "5114" "0" "5114" "0" "c.5114G>T" "r.(?)" "p.(Arg1705Leu)" "36"
"0000120846" "00001847" "90" "3292" "0" "3292" "0" "c.3292C>T" "r.(?)" "p.(Arg1098Cys)" "22"
"0000120847" "00001847" "70" "6609" "0" "6609" "0" "c.6609C>A" "r.(?)" "p.(Tyr2203*)" "48"
"0000120848" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000120849" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000120850" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000120851" "00001847" "50" "179" "0" "179" "0" "c.179C>T" "r.(?)" "p.(Ala60Val)" "3"
"0000120852" "00001847" "50" "214" "0" "214" "0" "c.214G>A" "r.(?)" "p.(Gly72Arg)" "3"
"0000120853" "00001847" "50" "454" "0" "454" "0" "c.454C>T" "r.(?)" "p.(Arg152*)" "5"
"0000120854" "00001847" "50" "730" "0" "731" "0" "c.730_731del" "r.(?)" "p.(Leu244Valfs*35)" "6"
"0000120855" "00001847" "50" "740" "0" "740" "0" "c.740A>G" "r.(?)" "p.(Asn247Ser)" "6"
"0000120856" "00001847" "50" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.(?)" "6"
"0000120857" "00001847" "70" "983" "0" "983" "0" "c.983A>T" "r.(?)" "p.(Glu328Val)" "8"
"0000120858" "00001847" "70" "1903" "0" "1903" "0" "c.1903C>A" "r.(?)" "p.(Gln635Lys)" "13"
"0000120859" "00001847" "90" "1317" "0" "1317" "0" "c.1317G>A" "r.(?)" "p.(Trp439*)" "10"
"0000120860" "00001847" "90" "1317" "0" "1317" "0" "c.1317G>A" "r.(?)" "p.(Trp439*)" "10"
"0000120861" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000120862" "00001847" "50" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000120863" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000120864" "00001847" "50" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000120865" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000120866" "00001847" "50" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000120867" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000120868" "00001847" "50" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000120869" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000120870" "00001847" "50" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000120871" "00001847" "50" "1903" "0" "1903" "0" "c.1903C>T" "r.(?)" "p.(Gln635*)" "13"
"0000120872" "00001847" "50" "1957" "0" "1957" "0" "c.1957C>T" "r.(?)" "p.(Arg653Cys)" "14"
"0000120873" "00001847" "50" "2041" "0" "2041" "0" "c.2041C>T" "r.(?)" "p.(Arg681*)" "14"
"0000120874" "00001847" "50" "2041" "0" "2041" "0" "c.2041C>T" "r.(?)" "p.(Arg681*)" "14"
"0000120875" "00001847" "50" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000120876" "00001847" "50" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000120877" "00001847" "50" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000120878" "00001847" "50" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000120879" "00001847" "50" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000120880" "00001847" "50" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000120881" "00001847" "50" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000120882" "00001847" "50" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000120883" "00001847" "50" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000120884" "00001847" "50" "3808" "0" "3808" "0" "c.3808G>T" "r.(?)" "p.(Glu1270*)" "25"
"0000120885" "00001847" "50" "4253" "5" "4253" "5" "c.4253+5G>A" "r.spl" "p.?" "28i"
"0000120886" "00001847" "50" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000120887" "00001847" "50" "4234" "0" "4234" "0" "c.4234C>T" "r.(?)" "p.(Gln1412*)" "28"
"0000120888" "00001847" "50" "4457" "0" "4457" "0" "c.4457C>T" "r.(?)" "p.(Pro1486Leu)" "30"
"0000120889" "00001847" "50" "4610" "0" "4610" "0" "c.4610C>T" "r.(?)" "p.(Thr1537Met)" "31"
"0000120890" "00001847" "50" "5288" "0" "5288" "0" "c.5288T>C" "r.(?)" "p.(Leu1763Pro)" "37"
"0000120891" "00001847" "50" "5460" "1" "5460" "1" "c.5460+1G>A" "r.spl" "p.?" "38i"
"0000120892" "00001847" "50" "5693" "0" "5693" "0" "c.5693G>A" "r.(?)" "p.(Arg1898His)" "40"
"0000120893" "00001847" "50" "5693" "0" "5693" "0" "c.5693G>A" "r.(?)" "p.(Arg1898His)" "40"
"0000120894" "00001847" "50" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.[=,?]" "40i"
"0000120895" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000120896" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000120897" "00001847" "50" "6229" "0" "6229" "0" "c.6229C>G" "r.(?)" "p.(Arg2077Gly)" "45"
"0000120898" "00001847" "70" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000120899" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000120900" "00001847" "90" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000120901" "00001847" "70" "853" "0" "853" "0" "c.853C>T" "r.(?)" "p.(Gln285*)" "7"
"0000120902" "00001847" "90" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000120903" "00001847" "70" "853" "0" "853" "0" "c.853C>T" "r.(?)" "p.(Gln285*)" "7"
"0000120904" "00001847" "90" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000120905" "00001847" "70" "853" "0" "853" "0" "c.853C>T" "r.(?)" "p.(Gln285*)" "7"
"0000120906" "00001847" "90" "6316" "0" "6316" "0" "c.6316C>T" "r.(?)" "p.(Arg2106Cys)" "46"
"0000120907" "00001847" "70" "6711" "0" "6711" "0" "c.6711dup" "r.(?)" "p.(Gln2238Thrfs*13)" "48"
"0000120908" "00001847" "90" "6316" "0" "6316" "0" "c.6316C>T" "r.(?)" "p.(Arg2106Cys)" "46"
"0000120909" "00001847" "70" "6711" "0" "6711" "0" "c.6711dup" "r.(?)" "p.(Gln2238Thrfs*13)" "48"
"0000120910" "00001847" "50" "4462" "0" "4462" "0" "c.4462T>C" "r.(?)" "p.(Cys1488Arg)" "30"
"0000120911" "00001847" "50" "4462" "0" "4462" "0" "c.4462T>C" "r.(?)" "p.(Cys1488Arg)" "30"
"0000120912" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000120913" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000120914" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000120915" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000120916" "00001847" "70" "4919" "0" "4919" "0" "c.4919G>A" "r.(?)" "p.(Arg1640Gln)" "35"
"0000120917" "00001847" "70" "2971" "0" "2971" "0" "c.2971G>C" "r.(?)" "p.(Gly991Arg)" "20"
"0000120918" "00001847" "70" "4919" "0" "4919" "0" "c.4919G>A" "r.(?)" "p.(Arg1640Gln)" "35"
"0000120919" "00001847" "70" "2971" "0" "2971" "0" "c.2971G>C" "r.(?)" "p.(Gly991Arg)" "20"
"0000120920" "00001847" "70" "4919" "0" "4919" "0" "c.4919G>A" "r.(?)" "p.(Arg1640Gln)" "35"
"0000120921" "00001847" "70" "2971" "0" "2971" "0" "c.2971G>C" "r.(?)" "p.(Gly991Arg)" "20"
"0000120922" "00001847" "30" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.(?)" "6"
"0000120923" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000120924" "00001847" "50" "6238" "0" "6239" "0" "c.6238_6239del" "r.(?)" "p.(Ser2080Hisfs*16)" "45"
"0000120925" "00001847" "50" "6238" "0" "6239" "0" "c.6238_6239del" "r.(?)" "p.(Ser2080Hisfs*16)" "45"
"0000120926" "00001847" "70" "454" "0" "454" "0" "c.454C>T" "r.(?)" "p.(Arg152*)" "5"
"0000120927" "00001847" "90" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" "44"
"0000120928" "00001847" "90" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" "44"
"0000120929" "00001847" "70" "2005" "0" "2006" "0" "c.2005_2006del" "r.(?)" "p.(Met669Aspfs*96)" "14"
"0000120930" "00001847" "90" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" "44"
"0000120931" "00001847" "70" "2005" "0" "2006" "0" "c.2005_2006del" "r.(?)" "p.(Met669Aspfs*96)" "14"
"0000120932" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000120933" "00001847" "50" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000120934" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000120935" "00001847" "30" "5196" "1" "5196" "1" "c.5196+1G>A" "r.spl" "p.?" "36i"
"0000120936" "00001847" "50" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000120937" "00001847" "50" "4685" "0" "4685" "0" "c.4685T>C" "r.(?)" "p.(Ile1562Thr)" "33"
"0000120938" "00001847" "50" "5196" "1" "5196" "1" "c.5196+1G>A" "r.spl" "p.?" "36i"
"0000120939" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000120940" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000120941" "00001847" "70" "1025" "0" "1038" "0" "c.1025_1038del" "r.(?)" "p.(Asp342Glyfs*6)" "8"
"0000120942" "00001847" "50" "2827" "0" "2827" "0" "c.2827C>T" "r.(?)" "p.(Arg943Trp)" "19"
"0000120943" "00001847" "50" "2827" "0" "2827" "0" "c.2827C>T" "r.(?)" "p.(Arg943Trp)" "19"
"0000120944" "00001847" "70" "2827" "0" "2827" "0" "c.2827C>T" "r.(?)" "p.(Arg943Trp)" "19"
"0000120945" "00001847" "70" "3443" "0" "3443" "0" "c.3443A>C" "r.(?)" "p.(Lys1148Thr)" "23"
"0000120946" "00001847" "70" "2827" "0" "2827" "0" "c.2827C>T" "r.(?)" "p.(Arg943Trp)" "19"
"0000120947" "00001847" "70" "3443" "0" "3443" "0" "c.3443A>C" "r.(?)" "p.(Lys1148Thr)" "23"
"0000120948" "00001847" "70" "3303" "0" "3303" "0" "c.3303G>A" "r.(?)" "p.(Trp1101*)" "22"
"0000120949" "00001847" "90" "3443" "0" "3443" "0" "c.3443A>C" "r.(?)" "p.(Lys1148Thr)" "23"
"0000120950" "00001847" "70" "1015" "0" "1015" "0" "c.1015T>G" "r.(?)" "p.(Trp339Gly)" "8"
"0000120951" "00001847" "70" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000120952" "00001847" "70" "1015" "0" "1015" "0" "c.1015T>G" "r.(?)" "p.(Trp339Gly)" "8"
"0000120953" "00001847" "70" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000120954" "00001847" "70" "1015" "0" "1015" "0" "c.1015T>G" "r.(?)" "p.(Trp339Gly)" "8"
"0000120955" "00001847" "50" "3602" "0" "3602" "0" "c.3602T>G" "r.(?)" "p.(Leu1201Arg)" "24"
"0000120956" "00001847" "70" "108" "0" "108" "0" "c.108del" "r.(?)" "p.(Leu37Trpfs*3)" "2"
"0000120957" "00001847" "70" "160" "1" "160" "1" "c.160+1G>A" "r.spl" "p.?" "2i"
"0000120958" "00001847" "90" "161" "0" "161" "0" "c.161G>A" "r.(?)" "p.(Cys54Tyr)" "3"
"0000120959" "00001847" "90" "161" "0" "161" "0" "c.161G>A" "r.(?)" "p.(Cys54Tyr)" "3"
"0000120960" "00001847" "90" "161" "0" "161" "0" "c.161G>A" "r.(?)" "p.(Cys54Tyr)" "3"
"0000120961" "00001847" "90" "161" "0" "161" "0" "c.161G>A" "r.(?)" "p.(Cys54Tyr)" "3"
"0000120962" "00001847" "90" "161" "0" "161" "0" "c.161G>A" "r.(?)" "p.(Cys54Tyr)" "3"
"0000120963" "00001847" "90" "161" "0" "161" "0" "c.161G>A" "r.(?)" "p.(Cys54Tyr)" "3"
"0000120964" "00001847" "50" "179" "0" "179" "0" "c.179C>T" "r.(?)" "p.(Ala60Val)" "3"
"0000120965" "00001847" "50" "179" "0" "179" "0" "c.179C>T" "r.(?)" "p.(Ala60Val)" "3"
"0000120966" "00001847" "50" "194" "0" "194" "0" "c.194G>A" "r.(?)" "p.(Gly65Glu)" "3"
"0000120967" "00001847" "50" "194" "0" "194" "0" "c.194G>A" "r.(?)" "p.(Gly65Glu)" "3"
"0000120968" "00001847" "50" "223" "0" "223" "0" "c.223T>G" "r.(?)" "p.(Cys75Gly)" "3"
"0000120969" "00001847" "50" "223" "0" "223" "0" "c.223T>G" "r.(?)" "p.(Cys75Gly)" "3"
"0000120970" "00001847" "50" "247" "0" "250" "0" "c.247_250del" "r.(?)" "p.(Gln83Alafs*31)" "3"
"0000120971" "00001847" "50" "247" "0" "250" "0" "c.247_250del" "r.(?)" "p.(Gln83Alafs*31)" "3"
"0000120972" "00001847" "50" "298" "0" "298" "0" "c.298T>C" "r.(?)" "p.(Ser100Pro)" "3"
"0000120973" "00001847" "50" "454" "0" "454" "0" "c.454C>T" "r.(?)" "p.(Arg152*)" "5"
"0000120974" "00001847" "50" "454" "0" "454" "0" "c.454C>T" "r.(?)" "p.(Arg152*)" "5"
"0000120975" "00001847" "50" "574" "0" "574" "0" "c.574G>A" "r.(?)" "p.(Ala192Thr)" "6"
"0000120976" "00001847" "50" "618" "0" "618" "0" "c.618C>G" "r.(?)" "p.(Ser206Arg)" "6"
"0000120977" "00001847" "50" "618" "0" "618" "0" "c.618C>G" "r.(?)" "p.(Ser206Arg)" "6"
"0000120978" "00001847" "50" "618" "0" "618" "0" "c.618C>G" "r.(?)" "p.(Ser206Arg)" "6"
"0000120979" "00001847" "50" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000120980" "00001847" "50" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000120981" "00001847" "50" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000120982" "00001847" "50" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000120983" "00001847" "50" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000120984" "00001847" "50" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000120985" "00001847" "50" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000120986" "00001847" "50" "635" "0" "635" "0" "c.635G>A" "r.(?)" "p.(Arg212His)" "6"
"0000120987" "00001847" "50" "635" "0" "635" "0" "c.635G>A" "r.(?)" "p.(Arg212His)" "6"
"0000120988" "00001847" "50" "635" "0" "635" "0" "c.635G>A" "r.(?)" "p.(Arg212His)" "6"
"0000120989" "00001847" "50" "635" "0" "635" "0" "c.635G>A" "r.(?)" "p.(Arg212His)" "6"
"0000120990" "00001847" "50" "635" "0" "635" "0" "c.635G>A" "r.(?)" "p.(Arg212His)" "6"
"0000120991" "00001847" "50" "635" "0" "635" "0" "c.635G>A" "r.(?)" "p.(Arg212His)" "6"
"0000120992" "00001847" "50" "658" "0" "658" "0" "c.658C>T" "r.(?)" "p.(Arg220Cys)" "6"
"0000120993" "00001847" "50" "658" "0" "658" "0" "c.658C>T" "r.(?)" "p.(Arg220Cys)" "6"
"0000120994" "00001847" "50" "664" "0" "664" "0" "c.664del" "r.(?)" "p.(Ala222Glnfs*19)" "6"
"0000120995" "00001847" "50" "666" "0" "678" "0" "c.666_678del" "r.(?)" "p.(Lys223Metfs*14)" "6"
"0000120996" "00001847" "50" "746" "0" "746" "0" "c.746A>G" "r.(?)" "p.(Asp249Gly)" "6"
"0000120997" "00001847" "50" "899" "0" "899" "0" "c.899C>A" "r.(?)" "p.(Thr300Asn)" "8"
"0000120998" "00001847" "50" "997" "0" "997" "0" "c.997C>T" "r.(?)" "p.(Arg333Trp)" "8"
"0000120999" "00001847" "50" "1140" "0" "1140" "0" "c.1140T>A" "r.(?)" "p.(Asn380Lys)" "9"
"0000121000" "00001847" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408*)" "9"
"0000121001" "00001847" "50" "1268" "0" "1268" "0" "c.1268A>G" "r.(?)" "p.(His423Arg)" "10"
"0000121002" "00001847" "50" "1268" "0" "1268" "0" "c.1268A>G" "r.(?)" "p.(His423Arg)" "10"
"0000121003" "00001847" "50" "1268" "0" "1268" "0" "c.1268A>G" "r.(?)" "p.(His423Arg)" "10"
"0000121004" "00001847" "50" "1268" "0" "1268" "0" "c.1268A>G" "r.(?)" "p.(His423Arg)" "10"
"0000121005" "00001847" "50" "1268" "0" "1268" "0" "c.1268A>G" "r.(?)" "p.(His423Arg)" "10"
"0000121006" "00001847" "50" "1268" "0" "1268" "0" "c.1268A>G" "r.(?)" "p.(His423Arg)" "10"
"0000121007" "00001847" "50" "1268" "0" "1268" "0" "c.1268A>G" "r.(?)" "p.(His423Arg)" "10"
"0000121008" "00001847" "50" "1335" "0" "1335" "0" "c.1335C>G" "r.(?)" "p.(Ser445Arg)" "10"
"0000121009" "00001847" "90" "1344" "0" "1344" "0" "c.1344del" "r.(?)" "p.(Met448Ilefs*3)" "10"
"0000121010" "00001847" "50" "1411" "0" "1411" "0" "c.1411G>A" "r.(?)" "p.(Glu471Lys)" "11"
"0000121011" "00001847" "50" "1411" "0" "1411" "0" "c.1411G>A" "r.(?)" "p.(Glu471Lys)" "11"
"0000121012" "00001847" "50" "1411" "0" "1411" "0" "c.1411G>A" "r.(?)" "p.(Glu471Lys)" "11"
"0000121013" "00001847" "90" "1513" "0" "1517" "0" "c.1513_1517del" "r.(?)" "p.(Ile505*)" "11"
"0000121014" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000121015" "00001847" "50" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000121016" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000121017" "00001847" "50" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000121018" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000121019" "00001847" "50" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000121020" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000121021" "00001847" "50" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000121022" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000121023" "00001847" "50" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000121024" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000121025" "00001847" "50" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000121026" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000121027" "00001847" "50" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000121028" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000121029" "00001847" "50" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000121030" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000121031" "00001847" "50" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000121032" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000121033" "00001847" "50" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000121034" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000121035" "00001847" "50" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000121036" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000121037" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000121038" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000121039" "00001847" "90" "1805" "0" "1805" "0" "c.1805G>A" "r.(?)" "p.(Arg602Gln)" "13"
"0000121040" "00001847" "50" "1819" "0" "1819" "0" "c.1819G>T" "r.(?)" "p.(Gly607Trp)" "13"
"0000121041" "00001847" "50" "1823" "0" "1823" "0" "c.1823T>A" "r.(?)" "p.(Phe608Tyr)" "13"
"0000121042" "00001847" "50" "1927" "0" "1927" "0" "c.1927G>A" "r.(?)" "p.(Val643Met)" "13"
"0000121043" "00001847" "50" "1989" "0" "1989" "0" "c.1989G>T" "r.(?)" "p.(Trp663Cys)" "14"
"0000121044" "00001847" "50" "2005" "0" "2006" "0" "c.2005_2006del" "r.(?)" "p.(Met669Aspfs*96)" "14"
"0000121045" "00001847" "50" "2005" "0" "2006" "0" "c.2005_2006del" "r.(?)" "p.(Met669Aspfs*96)" "14"
"0000121046" "00001847" "50" "2005" "0" "2006" "0" "c.2005_2006del" "r.(?)" "p.(Met669Aspfs*96)" "14"
"0000121047" "00001847" "50" "2041" "0" "2041" "0" "c.2041C>T" "r.(?)" "p.(Arg681*)" "14"
"0000121048" "00001847" "50" "2041" "0" "2041" "0" "c.2041C>T" "r.(?)" "p.(Arg681*)" "14"
"0000121049" "00001847" "50" "2147" "0" "2147" "0" "c.2147C>T" "r.(?)" "p.(Thr716Met)" "14"
"0000121050" "00001847" "50" "2291" "0" "2291" "0" "c.2291G>A" "r.(?)" "p.(Cys764Tyr)" "15"
"0000121051" "00001847" "50" "2294" "0" "2294" "0" "c.2294G>A" "r.(?)" "p.(Ser765Asn)" "15"
"0000121052" "00001847" "50" "2300" "0" "2300" "0" "c.2300T>A" "r.(?)" "p.(Val767Asp)" "15"
"0000121053" "00001847" "50" "2300" "0" "2300" "0" "c.2300T>A" "r.(?)" "p.(Val767Asp)" "15"
"0000121054" "00001847" "50" "2385" "0" "2400" "0" "c.2385_2400del" "r.(?)" "p.(Ser795Argfs*43)" "16"
"0000121055" "00001847" "50" "2453" "0" "2453" "0" "c.2453G>T" "r.(?)" "p.(Gly818Val)" "16"
"0000121056" "00001847" "50" "2461" "0" "2461" "0" "c.2461T>A" "r.(?)" "p.(Trp821Arg)" "16"
"0000121057" "00001847" "50" "2546" "0" "2546" "0" "c.2546T>C" "r.(?)" "p.(Val849Ala)" "16"
"0000121058" "00001847" "50" "2546" "0" "2546" "0" "c.2546T>C" "r.(?)" "p.(Val849Ala)" "16"
"0000121059" "00001847" "50" "2546" "0" "2546" "0" "c.2546T>C" "r.(?)" "p.(Val849Ala)" "16"
"0000121060" "00001847" "50" "2546" "0" "2546" "0" "c.2546T>C" "r.(?)" "p.(Val849Ala)" "16"
"0000121061" "00001847" "50" "2552" "0" "2552" "0" "c.2552G>A" "r.(?)" "p.(Gly851Asp)" "16"
"0000121062" "00001847" "50" "2560" "0" "2560" "0" "c.2560G>A" "r.(?)" "p.(Ala854Thr)" "16"
"0000121063" "00001847" "50" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000121064" "00001847" "50" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000121065" "00001847" "50" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000121066" "00001847" "50" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000121067" "00001847" "50" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000121068" "00001847" "50" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000121069" "00001847" "50" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000121070" "00001847" "50" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000121071" "00001847" "50" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000121072" "00001847" "50" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000121073" "00001847" "50" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000121074" "00001847" "50" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000121075" "00001847" "50" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000121076" "00001847" "50" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000121077" "00001847" "50" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000121078" "00001847" "50" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000121079" "00001847" "50" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000121080" "00001847" "50" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000121081" "00001847" "50" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000121082" "00001847" "50" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000121083" "00001847" "50" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000121084" "00001847" "50" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000121085" "00001847" "50" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000121086" "00001847" "50" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000121087" "00001847" "50" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000121088" "00001847" "50" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000121089" "00001847" "50" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000121090" "00001847" "50" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000121091" "00001847" "50" "2617" "0" "2617" "0" "c.2617T>C" "r.(?)" "p.(Phe873Leu)" "17"
"0000121092" "00001847" "50" "2690" "0" "2690" "0" "c.2690C>T" "r.(?)" "p.(Thr897Ile)" "18"
"0000121093" "00001847" "50" "2701" "0" "2701" "0" "c.2701A>G" "r.(?)" "p.(Thr901Ala)" "18"
"0000121094" "00001847" "50" "2884" "0" "2884" "0" "c.2884del" "r.(?)" "p.(Leu962Trpfs*15)" "19"
"0000121095" "00001847" "50" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000121096" "00001847" "50" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000121097" "00001847" "50" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000121098" "00001847" "50" "2912" "0" "2912" "0" "c.2912C>A" "r.(?)" "p.(Thr971Asn)" "19"
"0000121099" "00001847" "50" "2915" "0" "2915" "0" "c.2915C>A" "r.(?)" "p.(Thr972Asn)" "19"
"0000121100" "00001847" "50" "2920" "0" "2920" "0" "c.2920T>C" "r.(?)" "p.(Ser974Pro)" "20"
"0000121101" "00001847" "50" "2966" "0" "2966" "0" "c.2966T>C" "r.(?)" "p.(Val989Ala)" "20"
"0000121102" "00001847" "50" "2977" "0" "2984" "0" "c.2977_2984del" "r.(?)" "p.(Asp993Asnfs*27)" "20"
"0000121103" "00001847" "50" "2966" "0" "2966" "0" "c.2966T>C" "r.(?)" "p.(Val989Ala)" "20"
"0000121104" "00001847" "50" "3041" "0" "3041" "0" "c.3041T>G" "r.(?)" "p.(Leu1014Arg)" "20"
"0000121105" "00001847" "50" "3055" "0" "3055" "0" "c.3055A>G" "r.(?)" "p.(Thr1019Ala)" "21"
"0000121106" "00001847" "50" "3064" "0" "3064" "0" "c.3064G>A" "r.(?)" "p.(Glu1022Lys)" "21"
"0000121107" "00001847" "50" "3091" "0" "3091" "0" "c.3091A>G" "r.(?)" "p.(Lys1031Glu)" "21"
"0000121108" "00001847" "50" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000121109" "00001847" "50" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000121110" "00001847" "50" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000121111" "00001847" "50" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000121112" "00001847" "50" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000121113" "00001847" "50" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000121114" "00001847" "50" "3205" "0" "3206" "0" "c.3205_3206dup" "r.(?)" "p.(Leu1070Serfs*15)" "22"
"0000121115" "00001847" "50" "3261" "0" "3261" "0" "c.3261A>C" "r.(?)" "p.(Glu1087Asp)" "22"
"0000121116" "00001847" "50" "3261" "0" "3261" "0" "c.3261A>C" "r.(?)" "p.(Glu1087Asp)" "22"
"0000121117" "00001847" "50" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000121118" "00001847" "50" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000121119" "00001847" "50" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000121120" "00001847" "50" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000121121" "00001847" "50" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000121122" "00001847" "50" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000121123" "00001847" "50" "3323" "0" "3323" "0" "c.3323G>A" "r.(?)" "p.(Arg1108His)" "22"
"0000121124" "00001847" "50" "3364" "0" "3364" "0" "c.3364G>A" "r.(?)" "p.(Glu1122Lys)" "23"
"0000121125" "00001847" "50" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000121126" "00001847" "50" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000121127" "00001847" "50" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000121128" "00001847" "50" "3531" "0" "3531" "0" "c.3531C>A" "r.(?)" "p.(Cys1177*)" "24"
"0000121129" "00001847" "50" "3749" "0" "3749" "0" "c.3749T>C" "r.(?)" "p.(Leu1250Pro)" "25"
"0000121130" "00001847" "50" "3840" "0" "3845" "0" "c.3840_3845del" "r.(?)" "p.(Asp1281_Ser1282del)" "26"
"0000121131" "00001847" "50" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000121132" "00001847" "50" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000121133" "00001847" "50" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000121134" "00001847" "50" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000121135" "00001847" "50" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000121136" "00001847" "50" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000121137" "00001847" "50" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000121138" "00001847" "50" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000121139" "00001847" "50" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000121140" "00001847" "50" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000121141" "00001847" "50" "4222" "0" "4222" "0" "c.4222T>C" "r.(?)" "p.(Trp1408Arg)" "28"
"0000121142" "00001847" "50" "4222" "0" "4222" "0" "c.4222T>C" "r.(?)" "p.(Trp1408Arg)" "28"
"0000121143" "00001847" "50" "4223" "0" "4223" "0" "c.4223G>T" "r.(?)" "p.(Trp1408Leu)" "28"
"0000121144" "00001847" "50" "4223" "0" "4223" "0" "c.4223G>T" "r.(?)" "p.(Trp1408Leu)" "28"
"0000121145" "00001847" "50" "4234" "0" "4234" "0" "c.4234C>T" "r.(?)" "p.(Gln1412*)" "28"
"0000121146" "00001847" "50" "4319" "0" "4319" "0" "c.4319T>C" "r.(?)" "p.(Phe1440Ser)" "29"
"0000121147" "00001847" "50" "4353" "-1" "4353" "-1" "c.4353-1G>T" "r.spl" "p.?" "29i"
"0000121148" "00001847" "50" "4457" "0" "4457" "0" "c.4457C>T" "r.(?)" "p.(Pro1486Leu)" "30"
"0000121149" "00001847" "50" "4462" "0" "4462" "0" "c.4462T>C" "r.(?)" "p.(Cys1488Arg)" "30"
"0000121150" "00001847" "50" "4462" "0" "4462" "0" "c.4462T>C" "r.(?)" "p.(Cys1488Arg)" "30"
"0000121151" "00001847" "50" "4462" "0" "4462" "0" "c.4462T>C" "r.(?)" "p.(Cys1488Arg)" "30"
"0000121152" "00001847" "50" "4463" "0" "4463" "0" "c.4463G>T" "r.(?)" "p.(Cys1488Phe)" "30"
"0000121153" "00001847" "50" "4463" "0" "4463" "0" "c.4463G>T" "r.(?)" "p.(Cys1488Phe)" "30"
"0000121154" "00001847" "50" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000121155" "00001847" "50" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000121156" "00001847" "50" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000121157" "00001847" "50" "4537" "0" "4537" "0" "c.4537dup" "r.(?)" "p.(Gln1513Profs*42)" "30"
"0000121158" "00001847" "50" "4537" "0" "4537" "0" "c.4537dup" "r.(?)" "p.(Gln1513Profs*42)" "30"
"0000121159" "00001847" "50" "4538" "0" "4538" "0" "c.4538A>G" "r.(?)" "p.(Gln1513Arg)" "30"
"0000121160" "00001847" "50" "4539" "1" "4539" "1" "c.4539+1G>T" "r.spl" "p.?" "30i"
"0000121161" "00001847" "50" "4574" "0" "4574" "0" "c.4574T>C" "r.(?)" "p.(Leu1525Pro)" "31"
"0000121162" "00001847" "50" "4734" "0" "4737" "0" "c.4734_4737del" "r.(?)" "p.(Phe1579*)" "33"
"0000121163" "00001847" "50" "4859" "0" "4864" "0" "c.4859_4864delinsTCCT" "r.(?)" "p.(Asn1620Ilefs*25)" "35"
"0000121164" "00001847" "50" "4909" "0" "4909" "0" "c.4909G>A" "r.(?)" "p.(Ala1637Thr)" "35"
"0000121165" "00001847" "50" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" "35"
"0000121166" "00001847" "50" "4919" "0" "4919" "0" "c.4919G>A" "r.(?)" "p.(Arg1640Gln)" "35"
"0000121167" "00001847" "50" "4954" "0" "4954" "0" "c.4954T>G" "r.(?)" "p.(Tyr1652Asp)" "35"
"0000121168" "00001847" "50" "5077" "0" "5077" "0" "c.5077G>A" "r.(?)" "p.(Val1693Ile)" "36"
"0000121169" "00001847" "50" "5186" "0" "5186" "0" "c.5186T>C" "r.(?)" "p.(Leu1729Pro)" "36"
"0000121170" "00001847" "50" "5186" "0" "5186" "0" "c.5186T>C" "r.(?)" "p.(Leu1729Pro)" "36"
"0000121171" "00001847" "50" "5206" "0" "5206" "0" "c.5206T>C" "r.(?)" "p.(Ser1736Pro)" "37"
"0000121172" "00001847" "50" "5212" "0" "5222" "0" "c.5212_5222del" "r.(?)" "p.(Ser1738Glyfs*45)" "37"
"0000121173" "00001847" "50" "5222" "0" "5232" "0" "c.5222_5232del" "r.(?)" "p.(Leu1741Hisfs*42)" "37"
"0000121174" "00001847" "50" "5281" "0" "5289" "0" "c.5281_5289del" "r.(?)" "p.(Pro1761_Leu1763del)" "37"
"0000121175" "00001847" "50" "5289" "0" "5289" "0" "c.5289del" "r.(?)" "p.(Val1764Trpfs*14)" "37"
"0000121176" "00001847" "50" "5395" "0" "5395" "0" "c.5395A>G" "r.(?)" "p.(Asn1799Asp)" "38"
"0000121177" "00001847" "50" "5451" "0" "5451" "0" "c.5451G>T" "r.(?)" "p.(Glu1817Asp)" "38"
"0000121178" "00001847" "50" "5451" "0" "5451" "0" "c.5451G>T" "r.(?)" "p.(Glu1817Asp)" "38"
"0000121179" "00001847" "50" "5451" "0" "5451" "0" "c.5451G>T" "r.(?)" "p.(Glu1817Asp)" "38"
"0000121180" "00001847" "50" "5451" "0" "5451" "0" "c.5451G>T" "r.(?)" "p.(Glu1817Asp)" "38"
"0000121181" "00001847" "50" "5584" "5" "5584" "5" "c.5584+5G>A" "r.spl?" "p.(?)" "39i"
"0000121182" "00001847" "50" "5584" "5" "5584" "5" "c.5584+5G>A" "r.spl?" "p.(?)" "39i"
"0000121183" "00001847" "50" "5584" "5" "5584" "5" "c.5584+5G>A" "r.spl?" "p.(?)" "39i"
"0000121184" "00001847" "50" "5584" "5" "5584" "5" "c.5584+5G>A" "r.spl?" "p.(?)" "39i"
"0000121185" "00001847" "50" "5584" "5" "5584" "5" "c.5584+5G>A" "r.spl?" "p.(?)" "39i"
"0000121186" "00001847" "50" "5584" "5" "5584" "5" "c.5584+5G>A" "r.spl?" "p.(?)" "39i"
"0000121187" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000121188" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000121189" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000121190" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000121191" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000121192" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000121193" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000121194" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000121195" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000121196" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000121197" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000121198" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000121199" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000121200" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000121201" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000121202" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000121203" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000121204" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000121205" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000121206" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000121207" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000121208" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000121209" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000121210" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000121211" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000121212" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000121213" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000121214" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000121215" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000121216" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000121217" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000121218" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000121219" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000121220" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000121221" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000121222" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000121223" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000121224" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000121225" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000121226" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000121227" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000121228" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000121229" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000121230" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000121231" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000121232" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000121233" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000121234" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000121235" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000121236" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000121237" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000121238" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000121239" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000121240" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000121241" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000121242" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000121243" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000121244" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000121245" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000121246" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000121247" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000121248" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000121249" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000121250" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000121251" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000121252" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000121253" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000121254" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000121255" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000121256" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000121257" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000121258" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000121259" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000121260" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000121261" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000121262" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000121263" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000121264" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000121265" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000121266" "00001847" "50" "5651" "0" "5651" "0" "c.5651T>A" "r.(?)" "p.(Val1884Glu)" "40"
"0000121267" "00001847" "50" "5657" "0" "5657" "0" "c.5657G>A" "r.(?)" "p.(Gly1886Glu)" "40"
"0000121268" "00001847" "50" "5687" "0" "5687" "0" "c.5687T>A" "r.(?)" "p.(Val1896Asp)" "40"
"0000121269" "00001847" "50" "5693" "0" "5693" "0" "c.5693G>A" "r.(?)" "p.(Arg1898His)" "40"
"0000121270" "00001847" "50" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.?" "40i"
"0000121271" "00001847" "50" "5843" "0" "5844" "0" "c.5843_5844inv" "r.(?)" "p.(Pro1948Leu)" "42"
"0000121272" "00001847" "50" "5843" "0" "5844" "0" "c.5843_5844inv" "r.(?)" "p.(Pro1948Leu)" "42"
"0000121273" "00001847" "50" "5843" "0" "5844" "0" "c.5843_5844inv" "r.(?)" "p.(Pro1948Leu)" "42"
"0000121274" "00001847" "50" "5843" "0" "5844" "0" "c.5843_5844inv" "r.(?)" "p.(Pro1948Leu)" "42"
"0000121275" "00001847" "50" "5843" "0" "5844" "0" "c.5843_5844inv" "r.(?)" "p.(Pro1948Leu)" "42"
"0000121276" "00001847" "50" "5843" "0" "5844" "0" "c.5843_5844inv" "r.(?)" "p.(Pro1948Leu)" "42"
"0000121277" "00001847" "50" "5843" "0" "5844" "0" "c.5843_5844inv" "r.(?)" "p.(Pro1948Leu)" "42"
"0000121278" "00001847" "50" "5843" "0" "5844" "0" "c.5843_5844inv" "r.(?)" "p.(Pro1948Leu)" "42"
"0000121279" "00001847" "50" "5843" "0" "5844" "0" "c.5843_5844inv" "r.(?)" "p.(Pro1948Leu)" "42"
"0000121280" "00001847" "50" "5843" "0" "5844" "0" "c.5843_5844inv" "r.(?)" "p.(Pro1948Leu)" "42"
"0000121281" "00001847" "50" "5843" "0" "5844" "0" "c.5843_5844inv" "r.(?)" "p.(Pro1948Leu)" "42"
"0000121282" "00001847" "50" "5843" "0" "5844" "0" "c.5843_5844inv" "r.(?)" "p.(Pro1948Leu)" "42"
"0000121283" "00001847" "50" "5843" "0" "5844" "0" "c.5843_5844inv" "r.(?)" "p.(Pro1948Leu)" "42"
"0000121284" "00001847" "50" "5843" "0" "5844" "0" "c.5843_5844inv" "r.(?)" "p.(Pro1948Leu)" "42"
"0000121285" "00001847" "50" "5843" "0" "5844" "0" "c.5843_5844inv" "r.(?)" "p.(Pro1948Leu)" "42"
"0000121286" "00001847" "50" "5843" "0" "5844" "0" "c.5843_5844inv" "r.(?)" "p.(Pro1948Leu)" "42"
"0000121287" "00001847" "50" "5843" "0" "5844" "0" "c.5843_5844inv" "r.(?)" "p.(Pro1948Leu)" "42"
"0000121288" "00001847" "50" "5843" "0" "5844" "0" "c.5843_5844inv" "r.(?)" "p.(Pro1948Leu)" "42"
"0000121289" "00001847" "50" "5843" "0" "5844" "0" "c.5843_5844inv" "r.(?)" "p.(Pro1948Leu)" "42"
"0000121290" "00001847" "50" "5843" "0" "5844" "0" "c.5843_5844inv" "r.(?)" "p.(Pro1948Leu)" "42"
"0000121291" "00001847" "50" "5843" "0" "5844" "0" "c.5843_5844inv" "r.(?)" "p.(Pro1948Leu)" "42"
"0000121292" "00001847" "50" "5843" "0" "5844" "0" "c.5843_5844inv" "r.(?)" "p.(Pro1948Leu)" "42"
"0000121293" "00001847" "50" "5843" "0" "5844" "0" "c.5843_5844inv" "r.(?)" "p.(Pro1948Leu)" "42"
"0000121294" "00001847" "50" "5843" "0" "5844" "0" "c.5843_5844inv" "r.(?)" "p.(Pro1948Leu)" "42"
"0000121295" "00001847" "50" "5843" "0" "5844" "0" "c.5843_5844inv" "r.(?)" "p.(Pro1948Leu)" "42"
"0000121296" "00001847" "50" "5843" "0" "5844" "0" "c.5843_5844inv" "r.(?)" "p.(Pro1948Leu)" "42"
"0000121297" "00001847" "50" "5843" "0" "5844" "0" "c.5843_5844inv" "r.(?)" "p.(Pro1948Leu)" "42"
"0000121298" "00001847" "50" "5843" "0" "5844" "0" "c.5843_5844inv" "r.(?)" "p.(Pro1948Leu)" "42"
"0000121299" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000121300" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000121301" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000121302" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000121303" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000121304" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000121305" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000121306" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000121307" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000121308" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000121309" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000121310" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000121311" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000121312" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000121313" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000121314" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000121315" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000121316" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000121317" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000121318" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000121319" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000121320" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000121321" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000121322" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000121323" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000121324" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000121325" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000121326" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000121327" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000121328" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000121329" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000121330" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000121331" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000121332" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000121333" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000121334" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000121335" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000121336" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000121337" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000121338" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000121339" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000121340" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000121341" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000121342" "00001847" "50" "5908" "0" "5908" "0" "c.5908C>T" "r.(?)" "p.(Leu1970Phe)" "43"
"0000121343" "00001847" "50" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973*)" "43"
"0000121344" "00001847" "50" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000121345" "00001847" "50" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000121346" "00001847" "50" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000121347" "00001847" "50" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000121348" "00001847" "50" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000121349" "00001847" "50" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000121350" "00001847" "50" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000121351" "00001847" "50" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000121352" "00001847" "50" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000121353" "00001847" "50" "6088" "0" "6088" "0" "c.6088C>T" "r.(?)" "p.(Arg2030*)" "44"
"0000121354" "00001847" "50" "6088" "0" "6088" "0" "c.6088C>T" "r.(?)" "p.(Arg2030*)" "44"
"0000121355" "00001847" "50" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" "44"
"0000121356" "00001847" "50" "6112" "0" "6112" "0" "c.6112C>T" "r.(?)" "p.(Arg2038Trp)" "44"
"0000121357" "00001847" "50" "6212" "0" "6212" "0" "c.6212A>T" "r.(?)" "p.(Tyr2071Phe)" "45"
"0000121358" "00001847" "50" "6229" "0" "6229" "0" "c.6229C>T" "r.(?)" "p.(Arg2077Trp)" "45"
"0000121359" "00001847" "50" "6229" "0" "6229" "0" "c.6229C>T" "r.(?)" "p.(Arg2077Trp)" "45"
"0000121360" "00001847" "50" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000121361" "00001847" "50" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000121362" "00001847" "50" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000121363" "00001847" "50" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000121364" "00001847" "50" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000121365" "00001847" "50" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000121366" "00001847" "50" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000121367" "00001847" "50" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000121368" "00001847" "50" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000121369" "00001847" "50" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000121370" "00001847" "50" "6383" "0" "6383" "0" "c.6383A>G" "r.(?)" "p.(His2128Arg)" "46"
"0000121371" "00001847" "50" "6446" "0" "6446" "0" "c.6446G>T" "r.(?)" "p.(Arg2149Leu)" "47"
"0000121372" "00001847" "50" "6449" "0" "6449" "0" "c.6449G>A" "r.(?)" "p.(Cys2150Tyr)" "47"
"0000121373" "00001847" "50" "6449" "0" "6449" "0" "c.6449G>A" "r.(?)" "p.(Cys2150Tyr)" "47"
"0000121374" "00001847" "50" "6449" "0" "6449" "0" "c.6449G>A" "r.(?)" "p.(Cys2150Tyr)" "47"
"0000121375" "00001847" "50" "6449" "0" "6449" "0" "c.6449G>A" "r.(?)" "p.(Cys2150Tyr)" "47"
"0000121376" "00001847" "50" "6449" "0" "6449" "0" "c.6449G>A" "r.(?)" "p.(Cys2150Tyr)" "47"
"0000121377" "00001847" "50" "6686" "0" "6686" "0" "c.6686T>C" "r.(?)" "p.(Leu2229Pro)" "48"
"0000121378" "00001847" "50" "6707" "0" "6714" "0" "c.6707_6714del" "r.(?)" "p.(Val2236Aspfs*12)" "48"
"0000121379" "00001847" "50" "6729" "1" "6729" "1" "c.6729+1G>A" "r.spl" "p.?" "48i"
"0000121380" "00001847" "50" "6788" "0" "6788" "0" "c.6788G>T" "r.(?)" "p.(Arg2263Leu)" "49"
"0000121381" "00001847" "50" "302" "20" "302" "20" "c.302+20C>T" "r.(?)" "p.(?)" "3i"
"0000121382" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000121383" "00001847" "90" "4222" "0" "4222" "0" "c.4222T>C" "r.(?)" "p.(Trp1408Arg)" "28"
"0000121384" "00001847" "90" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" "35"
"0000121385" "00001847" "70" "2300" "0" "2300" "0" "c.2300T>A" "r.(?)" "p.(Val767Asp)" "15"
"0000121386" "00001847" "70" "4222" "0" "4222" "0" "c.4222T>C" "r.(?)" "p.(Trp1408Arg)" "28"
"0000121387" "00001847" "70" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" "35"
"0000121388" "00001847" "70" "2300" "0" "2300" "0" "c.2300T>A" "r.(?)" "p.(Val767Asp)" "15"
"0000121389" "00001847" "70" "4222" "0" "4222" "0" "c.4222T>C" "r.(?)" "p.(Trp1408Arg)" "28"
"0000121390" "00001847" "70" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" "35"
"0000121391" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000121392" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000121393" "00001847" "50" "3064" "0" "3064" "0" "c.3064G>A" "r.(?)" "p.(Glu1022Lys)" "21"
"0000121394" "00001847" "50" "688" "0" "688" "0" "c.688T>A" "r.(?)" "p.(Cys230Ser)" "6"
"0000121395" "00001847" "50" "5018" "2" "5018" "2" "c.5018+2T>C" "r.spl?" "p.(?)" "35i"
"0000121396" "00001847" "50" "2461" "0" "2461" "0" "c.2461T>A" "r.(?)" "p.(Trp821Arg)" "16"
"0000121397" "00001847" "50" "6449" "0" "6449" "0" "c.6449G>A" "r.(?)" "p.(Cys2150Tyr)" "47"
"0000121398" "00001847" "50" "2791" "0" "2791" "0" "c.2791G>A" "r.(?)" "p.(Val931Met)" "19"
"0000121399" "00001847" "50" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000121400" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000121401" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000121402" "00001847" "50" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000121403" "00001847" "50" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000121404" "00001847" "50" "571" "-1" "571" "-1" "c.571-1G>T" "r.spl" "p.?" "5i"
"0000121405" "00001847" "50" "5961" "0" "5964" "0" "c.5961_5964del" "r.(?)" "p.(Asp1988Profs*3)" "43"
"0000121406" "00001847" "50" "455" "0" "455" "0" "c.455G>A" "r.(?)" "p.(Arg152Gln)" "5"
"0000121407" "00001847" "50" "4535" "0" "4535" "0" "c.4535C>G" "r.(?)" "p.(Pro1512Arg)" "30"
"0000121408" "00001847" "90" "3295" "0" "3295" "0" "c.3295T>C" "r.(?)" "p.(Ser1099Pro)" "22"
"0000121409" "00001847" "70" "6750" "0" "6750" "0" "c.6750del" "r.(?)" "p.(Lys2250Asnfs*60)" "49"
"0000121410" "00001847" "50" "2099" "0" "2099" "0" "c.2099G>A" "r.(?)" "p.(Trp700*)" "14"
"0000121411" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000121412" "00001847" "50" "1922" "0" "1922" "0" "c.1922G>C" "r.(?)" "p.(Cys641Ser)" "13"
"0000121413" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000121414" "00001847" "50" "3259" "0" "3259" "0" "c.3259G>A" "r.(?)" "p.(Glu1087Lys)" "22"
"0000121415" "00001847" "90" "247" "0" "250" "0" "c.247_250dup" "r.(?)" "p.(Ser84Thrfs*16)" "3"
"0000121416" "00001847" "70" "323" "0" "323" "0" "c.323A>T" "r.(?)" "p.(Asp108Val)" "4"
"0000121417" "00001847" "50" "4793" "0" "4793" "0" "c.4793C>A" "r.(?)" "p.(Ala1598Asp)" "34"
"0000121418" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.?" "40i"
"0000121419" "00001847" "50" "288" "0" "288" "0" "c.288C>A" "r.(?)" "p.(Asn96Lys)" "3"
"0000121420" "00001847" "70" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" "31"
"0000121421" "00001847" "70" "2933" "0" "2933" "0" "c.2933G>A" "r.(?)" "p.(Gly978Asp)" "20"
"0000121422" "00001847" "70" "4793" "0" "4793" "0" "c.4793C>A" "r.(?)" "p.(Ala1598Asp)" "34"
"0000121423" "00001847" "70" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" "31"
"0000121424" "00001847" "70" "1957" "0" "1957" "0" "c.1957C>T" "r.(?)" "p.(Arg653Cys)" "14"
"0000121425" "00001847" "70" "3292" "0" "3292" "0" "c.3292C>T" "r.(?)" "p.(Arg1098Cys)" "22"
"0000121426" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000121427" "00001847" "70" "1390" "0" "1391" "0" "c.1390_1391del" "r.(?)" "p.(Leu464Glufs*2)" "11"
"0000121428" "00001847" "70" "3149" "0" "3149" "0" "c.3149G>A" "r.(?)" "p.(Gly1050Asp)" "21"
"0000121429" "00001847" "90" "6817" "-1" "6817" "-1" "c.6817-1G>A" "r.spl" "p.?" "49i"
"0000121430" "00001847" "70" "3056" "0" "3056" "0" "c.3056C>T" "r.(?)" "p.(Thr1019Met)" "21"
"0000121431" "00001847" "70" "3056" "0" "3056" "0" "c.3056C>T" "r.(?)" "p.(Thr1019Met)" "21"
"0000121432" "00001847" "50" "2099" "0" "2099" "0" "c.2099G>A" "r.(?)" "p.(Trp700*)" "14"
"0000121433" "00001847" "50" "5018" "2" "5018" "2" "c.5018+2T>C" "r.spl?" "p.?" "35i"
"0000121434" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000121435" "00001847" "50" "327" "0" "327" "0" "c.327dup" "r.(?)" "p.(Gln110Serfs*51)" "4"
"0000121436" "00001847" "50" "6446" "0" "6446" "0" "c.6446G>T" "r.(?)" "p.(Arg2149Leu)" "47"
"0000121437" "00001847" "50" "6446" "0" "6446" "0" "c.6446G>T" "r.(?)" "p.(Arg2149Leu)" "47"
"0000121438" "00001847" "50" "6446" "0" "6446" "0" "c.6446G>T" "r.(?)" "p.(Arg2149Leu)" "47"
"0000121439" "00001847" "50" "6446" "0" "6446" "0" "c.6446G>T" "r.(?)" "p.(Arg2149Leu)" "47"
"0000121440" "00001847" "50" "6446" "0" "6446" "0" "c.6446G>T" "r.(?)" "p.(Arg2149Leu)" "47"
"0000121441" "00001847" "50" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000121442" "00001847" "50" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.[=,?]" "40i"
"0000121443" "00001847" "90" "2461" "0" "2461" "0" "c.2461T>A" "r.(?)" "p.(Trp821Arg)" "16"
"0000121444" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.?" "40i"
"0000121445" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000121446" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000121447" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000121448" "00001847" "70" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000121449" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000121450" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000121451" "00001847" "70" "3149" "0" "3149" "0" "c.3149G>A" "r.(?)" "p.(Gly1050Asp)" "21"
"0000121452" "00001847" "70" "2860" "0" "2860" "0" "c.2860T>G" "r.(?)" "p.(Tyr954Asp)" "19"
"0000121453" "00001847" "70" "3149" "0" "3149" "0" "c.3149G>A" "r.(?)" "p.(Gly1050Asp)" "21"
"0000121454" "00001847" "70" "2860" "0" "2860" "0" "c.2860T>G" "r.(?)" "p.(Tyr954Asp)" "19"
"0000121455" "00001847" "90" "4793" "0" "4793" "0" "c.4793C>A" "r.(?)" "p.(Ala1598Asp)" "34"
"0000121456" "00001847" "70" "4956" "0" "4956" "0" "c.4956T>G" "r.(?)" "p.(Tyr1652*)" "35"
"0000121457" "00001847" "90" "2701" "0" "2701" "0" "c.2701A>G" "r.(?)" "p.(Thr901Ala)" "18"
"0000121458" "00001847" "30" "4773" "2" "4773" "2" "c.4773+2T>C" "r.(?)" "p.(?)" "33"
"0000121459" "00001847" "90" "161" "0" "161" "0" "c.161G>A" "r.(?)" "p.(Cys54Tyr)" "3"
"0000121460" "00001847" "90" "161" "0" "161" "0" "c.161G>A" "r.(?)" "p.(Cys54Tyr)" "3"
"0000121461" "00001847" "90" "618" "0" "618" "0" "c.618C>G" "r.(?)" "p.(Ser206Arg)" "6"
"0000121462" "00001847" "30" "302" "1" "302" "1" "c.302+1G>A" "r.spl" "p.?" "3i"
"0000121463" "00001847" "90" "618" "0" "618" "0" "c.618C>G" "r.(?)" "p.(Ser206Arg)" "6"
"0000121464" "00001847" "30" "302" "1" "302" "1" "c.302+1G>A" "r.spl" "p.?" "3i"
"0000121465" "00001847" "70" "4926" "0" "4926" "0" "c.4926C>G" "r.(?)" "p.(Ser1642Arg)" "35"
"0000121466" "00001847" "70" "0" "0" "0" "0" "c.?" "r.(?)" "p.(?)" "36"
"0000121467" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000121468" "00001847" "50" "6449" "0" "6449" "0" "c.6449G>A" "r.(?)" "p.(Cys2150Tyr)" "47"
"0000121469" "00001847" "50" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000121470" "00001847" "50" "5206" "0" "5206" "0" "c.5206T>C" "r.(?)" "p.(Ser1736Pro)" "37"
"0000121471" "00001847" "90" "161" "0" "161" "0" "c.161G>A" "r.(?)" "p.(Cys54Tyr)" "3"
"0000121472" "00001847" "50" "5114" "0" "5114" "0" "c.5114G>T" "r.(?)" "p.(Arg1705Leu)" "36"
"0000121473" "00001847" "50" "574" "0" "574" "0" "c.574G>A" "r.(?)" "p.(Ala192Thr)" "6"
"0000121474" "00001847" "90" "4462" "0" "4462" "0" "c.4462T>C" "r.(?)" "p.(Cys1488Arg)" "30"
"0000121475" "00001847" "70" "4232" "0" "4233" "0" "c.4232_4233insTATG" "r.(?)" "p.(Gln1412Metfs*11)" "28"
"0000121476" "00001847" "90" "4462" "0" "4462" "0" "c.4462T>C" "r.(?)" "p.(Cys1488Arg)" "28"
"0000121478" "00001847" "50" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" "31"
"0000121479" "00001847" "50" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" "31"
"0000121480" "00001847" "90" "4462" "0" "4462" "0" "c.4462T>C" "r.(?)" "p.(Cys1488Arg)" "30"
"0000121481" "00001847" "70" "4947" "0" "4947" "0" "c.4947del" "r.(?)" "p.(Glu1650Argfs*12)" "35"
"0000121482" "00001847" "90" "4462" "0" "4462" "0" "c.4462T>C" "r.(?)" "p.(Cys1488Arg)" "30"
"0000121483" "00001847" "70" "4947" "0" "4947" "0" "c.4947del" "r.(?)" "p.(Glu1650Argfs*12)" "35"
"0000121484" "00001847" "50" "4216" "0" "4216" "0" "c.4216C>G" "r.(?)" "p.(His1406Asp)" "28"
"0000121485" "00001847" "50" "6148" "0" "6148" "0" "c.6148G>C" "r.(?)" "p.[(Val2050Leu, ?)]" "45"
"0000121486" "00001847" "50" "4216" "0" "4216" "0" "c.4216C>G" "r.(?)" "p.(His1406Asp)" "28"
"0000121487" "00001847" "50" "6148" "0" "6148" "0" "c.6148G>C" "r.(?)" "p.[(Val2050Leu, ?)]" "45"
"0000121488" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000121489" "00001847" "70" "2160" "1" "2160" "1" "c.2160+1G>C" "r.spl" "p.?" "14i"
"0000121490" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000121491" "00001847" "70" "2160" "1" "2160" "1" "c.2160+1G>C" "r.spl" "p.?" "14i"
"0000121492" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000121493" "00001847" "70" "2160" "1" "2160" "1" "c.2160+1G>C" "r.spl" "p.?" "14i"
"0000121494" "00001847" "50" "2461" "0" "2461" "0" "c.2461T>A" "r.(?)" "p.(Trp821Arg)" "16"
"0000121495" "00001847" "70" "3259" "0" "3259" "0" "c.3259G>A" "r.(?)" "p.(Glu1087Lys)" "22"
"0000121496" "00001847" "70" "203" "0" "203" "0" "c.203C>G" "r.(?)" "p.(Pro68Arg)" "3"
"0000121497" "00001847" "70" "3259" "0" "3259" "0" "c.3259G>A" "r.(?)" "p.(Glu1087Lys)" "22"
"0000121498" "00001847" "70" "203" "0" "203" "0" "c.203C>G" "r.(?)" "p.(Pro68Arg)" "3"
"0000121499" "00001847" "50" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000121500" "00001847" "90" "6286" "0" "6286" "0" "c.6286G>A" "r.(?)" "p.(Glu2096Lys)" "46"
"0000121501" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.?" "40i"
"0000121502" "00001847" "90" "6286" "0" "6286" "0" "c.6286G>A" "r.(?)" "p.(Glu2096Lys)" "46"
"0000121503" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.?" "40i"
"0000121504" "00001847" "90" "5196" "1" "5196" "1" "c.5196+1G>A" "r.spl" "p.?" "36i"
"0000121505" "00001847" "90" "5585" "-1" "5585" "-1" "c.5585-1G>A" "r.spl" "p.?" "39i"
"0000121506" "00001847" "90" "5196" "1" "5196" "1" "c.5196+1G>A" "r.spl" "p.?" "36i"
"0000121507" "00001847" "90" "5585" "-1" "5585" "-1" "c.5585-1G>A" "r.spl" "p.?" "39i"
"0000121508" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000121509" "00001847" "70" "3758" "0" "3758" "0" "c.3758C>T" "r.(?)" "p.(Thr1253Met)" "25"
"0000121510" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000121511" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000121512" "00001847" "70" "3758" "0" "3758" "0" "c.3758C>T" "r.(?)" "p.(Thr1253Met)" "25"
"0000121513" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000121514" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000121515" "00001847" "70" "1648" "0" "1648" "0" "c.1648G>A" "r.(?)" "p.(Gly550Arg)" "12"
"0000121516" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000121517" "00001847" "30" "3050" "5" "3050" "5" "c.3050+5G>A" "r.spl" "p.?" "20i"
"0000121518" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000121519" "00001847" "90" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000121520" "00001847" "70" "5196" "2" "5196" "2" "c.5196+2T>C" "r.spl?" "p.?" "36i"
"0000121521" "00001847" "70" "161" "0" "161" "0" "c.161G>A" "r.(?)" "p.(Cys54Tyr)" "3"
"0000121522" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000121523" "00001847" "50" "666" "0" "678" "0" "c.666_678del" "r.(?)" "p.(Lys223Metfs*14)" "6"
"0000121524" "00001847" "70" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000121525" "00001847" "70" "6339" "0" "6339" "0" "c.6339C>G" "r.(?)" "p.(Ile2113Met)" "46"
"0000121526" "00001847" "30" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000121527" "00001847" "70" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000121528" "00001847" "70" "5929" "0" "5929" "0" "c.5929G>A" "r.(?)" "p.(Gly1977Ser)" "43"
"0000121529" "00001847" "70" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000121530" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000121531" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000121532" "00001847" "70" "194" "0" "194" "0" "c.194G>A" "r.(?)" "p.(Gly65Glu)" "3"
"0000121533" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000121534" "00001847" "50" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000121535" "00001847" "50" "6601" "0" "6602" "0" "c.6601_6602del" "r.(?)" "p.(Arg2201Alafs*49)" "48"
"0000121536" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000121537" "00001847" "50" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000121538" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000121539" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000121540" "00001847" "50" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.(Leu257Valfs*17)" "6"
"0000121541" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000121542" "00001847" "90" "5019" "-2" "5020" "0" "c.5019-2_5020del" "r.spl" "p.?" "35i_36"
"0000121543" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000121544" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000121545" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000121546" "00001847" "50" "3364" "0" "3364" "0" "c.3364G>A" "r.(?)" "p.(Glu1122Lys)" "23"
"0000121547" "00001847" "90" "4539" "1" "4539" "1" "c.4539+1G>T" "r.spl" "p.?" "30i"
"0000121548" "00001847" "90" "3085" "0" "3085" "0" "c.3085C>T" "r.(?)" "p.(Gln1029*)" "21"
"0000121549" "00001847" "50" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000121550" "00001847" "70" "5196" "1" "5196" "1" "c.5196+1G>A" "r.spl" "p.?" "36i"
"0000121551" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000121552" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000121553" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000121554" "00001847" "70" "2292" "0" "2295" "0" "c.2292_2295delinsAGG" "r.(?)" "p.(Cys764*)" "15"
"0000121555" "00001847" "70" "5196" "1" "5196" "1" "c.5196+1G>A" "r.spl" "p.?" "36i"
"0000121556" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000121557" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000121558" "00001847" "70" "6122" "0" "6122" "0" "c.6122G>A" "r.(?)" "p.(Gly2041Asp)" "44"
"0000121559" "00001847" "90" "1760" "2" "1760" "2" "c.1760+2T>G" "r.spl" "p.?" "12i"
"0000121560" "00001847" "90" "859" "-45" "952" "0" "c.859-45_952delinsTCTGACC" "r.spl" "p.?" "7i_8"
"0000121561" "00001847" "90" "1760" "2" "1760" "2" "c.1760+2T>G" "r.spl" "p.?" "12i"
"0000121562" "00001847" "90" "859" "-45" "952" "0" "c.859-45_952delinsTCTGACC" "r.spl" "p.?" "7i_8"
"0000121563" "00001847" "90" "859" "-45" "952" "0" "c.859-45_952delinsTCTGACC" "r.spl" "p.?" "7i_8"
"0000121564" "00001847" "90" "1760" "2" "1760" "2" "c.1760+2T>G" "r.spl" "p.?" "12i"
"0000121565" "00001847" "90" "1760" "2" "1760" "2" "c.1760+2T>G" "r.spl" "p.?" "12i"
"0000121566" "00001847" "90" "1760" "2" "1760" "2" "c.1760+2T>G" "r.spl" "p.?" "12i"
"0000121567" "00001847" "70" "1894" "0" "1894" "0" "c.1894del" "r.(?)" "p.(Ile632Serfs*17)" "13"
"0000121568" "00001847" "90" "1760" "2" "1760" "2" "c.1760+2T>G" "r.spl" "p.?" "12i"
"0000121569" "00001847" "70" "1894" "0" "1894" "0" "c.1894del" "r.(?)" "p.(Ile632Serfs*17)" "13"
"0000121570" "00001847" "70" "1760" "2" "1760" "2" "c.1760+2T>G" "r.spl" "p.?" "12i"
"0000121571" "00001847" "70" "1760" "2" "1760" "2" "c.1760+2T>G" "r.spl" "p.?" "12i"
"0000121572" "00001847" "70" "3292" "0" "3292" "0" "c.3292C>T" "r.(?)" "p.(Arg1098Cys)" "22"
"0000121573" "00001847" "70" "1659" "0" "1659" "0" "c.1659C>G" "r.(?)" "p.(Phe553Leu)" "12"
"0000121574" "00001847" "70" "5819" "0" "5819" "0" "c.5819T>C" "r.(?)" "p.(Leu1940Pro)" "41"
"0000121575" "00001847" "70" "5819" "0" "5819" "0" "c.5819T>C" "r.(?)" "p.(Leu1940Pro)" "41"
"0000121576" "00001847" "70" "3292" "0" "3292" "0" "c.3292C>T" "r.(?)" "p.(Arg1098Cys)" "22"
"0000121577" "00001847" "70" "5819" "0" "5819" "0" "c.5819T>C" "r.(?)" "p.(Leu1940Pro)" "41"
"0000121578" "00001847" "70" "3292" "0" "3292" "0" "c.3292C>T" "r.(?)" "p.(Arg1098Cys)" "22"
"0000121579" "00001847" "70" "5819" "0" "5819" "0" "c.5819T>C" "r.(?)" "p.(Leu1940Pro)" "41"
"0000121580" "00001847" "70" "1659" "0" "1659" "0" "c.1659C>G" "r.(?)" "p.(Phe553Leu)" "12"
"0000121581" "00001847" "70" "5819" "0" "5819" "0" "c.5819T>C" "r.(?)" "p.(Leu1940Pro)" "41"
"0000121582" "00001847" "70" "1659" "0" "1659" "0" "c.1659C>G" "r.(?)" "p.(Phe553Leu)" "12"
"0000121583" "00001847" "70" "5819" "0" "5819" "0" "c.5819T>C" "r.(?)" "p.(Leu1940Pro)" "41"
"0000121584" "00001847" "70" "3292" "0" "3292" "0" "c.3292C>T" "r.(?)" "p.(Arg1098Cys)" "22"
"0000121585" "00001847" "70" "5413" "0" "5413" "0" "c.5413A>G" "r.(?)" "p.(Asn1805Asp)" "38"
"0000121586" "00001847" "50" "5413" "0" "5413" "0" "c.5413A>G" "r.(?)" "p.(Asn1805Asp)" "38"
"0000121587" "00001847" "50" "286" "0" "286" "0" "c.286A>G" "r.(?)" "p.(Asn96Asp)" "3"
"0000121588" "00001847" "50" "466" "0" "466" "0" "c.466A>G" "r.(?)" "p.(Ile156Val)" "5"
"0000121589" "00001847" "70" "466" "0" "466" "0" "c.466A>G" "r.(?)" "p.(Ile156Val)" "5"
"0000121590" "00001847" "30" "1819" "0" "1819" "0" "c.1819G>A" "r.(?)" "p.(Gly607Arg)" "13"
"0000121591" "00001847" "50" "455" "0" "455" "0" "c.455G>A" "r.(?)" "p.(Arg152Gln)" "5"
"0000121592" "00001847" "70" "5584" "1" "5584" "1" "c.5584+1G>A" "r.spl" "p.?" "39i"
"0000121593" "00001847" "50" "3323" "0" "3323" "0" "c.3323G>A" "r.(?)" "p.(Arg1108His)" "22"
"0000121594" "00001847" "90" "6764" "0" "6764" "0" "c.6764G>T" "r.(?)" "p.(Ser2255Ile)" "49"
"0000121595" "00001847" "50" "763" "0" "763" "0" "c.763C>T" "r.(?)" "p.(Arg255Cys)" "6"
"0000121596" "00001847" "50" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000121597" "00001847" "30" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000121598" "00001847" "30" "6764" "0" "6764" "0" "c.6764G>T" "r.(?)" "p.(Ser2255Ile)" "49"
"0000121599" "00001847" "50" "5908" "0" "5908" "0" "c.5908C>T" "r.(?)" "p.(Leu1970Phe)" "43"
"0000121600" "00001847" "50" "6764" "0" "6764" "0" "c.6764G>T" "r.(?)" "p.(Ser2255Ile)" "49"
"0000121601" "00001847" "50" "3259" "0" "3259" "0" "c.3259G>T" "r.(?)" "p.(Glu1087*)" "22"
"0000121602" "00001847" "90" "2616" "0" "2617" "0" "c.2616_2617del" "r.(?)" "p.(Phe873Serfs*11)" "17"
"0000121603" "00001847" "90" "571" "-2" "571" "-2" "c.571-2A>G" "r.spl" "p.?" "5i"
"0000121604" "00001847" "70" "5929" "0" "5929" "0" "c.5929G>A" "r.(?)" "p.(Gly1977Ser)" "43"
"0000121605" "00001847" "50" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" "35"
"0000121606" "00001847" "50" "4283" "0" "4283" "0" "c.4283C>T" "r.(?)" "p.(Thr1428Met)" "29"
"0000121607" "00001847" "50" "4283" "0" "4283" "0" "c.4283C>T" "r.(?)" "p.(Thr1428Met)" "29"
"0000121608" "00001847" "50" "6118" "0" "6118" "0" "c.6118C>T" "r.(?)" "p.(Arg2040*)" "44"
"0000121609" "00001847" "50" "6118" "0" "6118" "0" "c.6118C>T" "r.(?)" "p.(Arg2040*)" "44"
"0000121610" "00001847" "50" "2654" "-905" "2743" "35" "c.2654-905_2743+35del" "r.(?)" "p.(Gly885_His915del)" "17i_18i"
"0000121611" "00001847" "50" "4342" "0" "4342" "0" "c.4342G>A" "r.(?)" "p.(Gly1448Arg)" "29"
"0000121612" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000121613" "00001847" "50" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000121614" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000121615" "00001847" "30" "4854" "0" "4854" "0" "c.4854G>A" "r.(?)" "p.(Trp1618*)" "35"
"0000121616" "00001847" "50" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.?" "40i"
"0000121617" "00001847" "70" "1798" "0" "1798" "0" "c.1798G>T" "r.(?)" "p.(Asp600Tyr)" "13"
"0000121618" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000121619" "00001847" "50" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.?" "40i"
"0000121620" "00001847" "90" "2300" "0" "2300" "0" "c.2300T>A" "r.(?)" "p.(Val767Asp)" "15"
"0000121621" "00001847" "70" "982" "0" "982" "0" "c.982G>T" "r.(?)" "p.(Glu328*)" "8"
"0000121622" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000121623" "00001847" "70" "1648" "0" "1648" "0" "c.1648G>A" "r.(?)" "p.(Gly550Arg)" "12"
"0000121624" "00001847" "50" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000121625" "00001847" "50" "6148" "0" "6148" "0" "c.6148G>C" "r.(?)" "p.(?)" "45"
"0000121626" "00001847" "50" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.?" "40i"
"0000121627" "00001847" "50" "3602" "0" "3602" "0" "c.3602T>G" "r.(?)" "p.(Leu1201Arg)" "24"
"0000121628" "00001847" "50" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000121629" "00001847" "50" "3602" "0" "3602" "0" "c.3602T>G" "r.(?)" "p.(Leu1201Arg)" "24"
"0000121630" "00001847" "50" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000121631" "00001847" "90" "161" "0" "161" "0" "c.161G>A" "r.(?)" "p.(Cys54Tyr)" "3"
"0000121632" "00001847" "90" "161" "0" "161" "0" "c.161G>A" "r.(?)" "p.(Cys54Tyr)" "3"
"0000121633" "00001847" "90" "161" "0" "161" "0" "c.161G>A" "r.(?)" "p.(Cys54Tyr)" "3"
"0000121634" "00001847" "50" "194" "0" "194" "0" "c.194G>A" "r.(?)" "p.(Gly65Glu)" "3"
"0000121635" "00001847" "50" "428" "0" "428" "0" "c.428C>T" "r.(?)" "p.(Pro143Leu)" "4"
"0000121636" "00001847" "50" "455" "0" "455" "0" "c.455G>A" "r.(?)" "p.(Arg152Gln)" "5"
"0000121637" "00001847" "50" "514" "0" "514" "0" "c.514G>A" "r.(?)" "p.(Gly172Ser)" "5"
"0000121638" "00001847" "50" "635" "0" "635" "0" "c.635G>A" "r.(?)" "p.(Arg212His)" "6"
"0000121639" "00001847" "50" "656" "0" "656" "0" "c.656G>C" "r.(?)" "p.(Arg219Thr)" "6"
"0000121640" "00001847" "50" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.(?)" "6"
"0000121641" "00001847" "50" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.(?)" "6"
"0000121642" "00001847" "50" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.(?)" "6"
"0000121643" "00001847" "70" "1007" "0" "1007" "0" "c.1007C>G" "r.(?)" "p.(Ser336Cys)" "8"
"0000121644" "00001847" "70" "1007" "0" "1007" "0" "c.1007C>G" "r.(?)" "p.(Ser336Cys)" "8"
"0000121645" "00001847" "50" "1268" "0" "1268" "0" "c.1268A>G" "r.(?)" "p.(His423Arg)" "10"
"0000121646" "00001847" "50" "1268" "0" "1268" "0" "c.1268A>G" "r.(?)" "p.(His423Arg)" "10"
"0000121647" "00001847" "50" "1268" "0" "1268" "0" "c.1268A>G" "r.(?)" "p.(His423Arg)" "10"
"0000121648" "00001847" "50" "1268" "0" "1268" "0" "c.1268A>G" "r.(?)" "p.(His423Arg)" "10"
"0000121649" "00001847" "50" "1411" "0" "1411" "0" "c.1411G>A" "r.(?)" "p.(Glu471Lys)" "11"
"0000121650" "00001847" "50" "1411" "0" "1411" "0" "c.1411G>A" "r.(?)" "p.(Glu471Lys)" "11"
"0000121651" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000121652" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000121653" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000121654" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000121655" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000121656" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000121657" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000121658" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000121659" "00001847" "50" "1933" "0" "1933" "0" "c.1933G>A" "r.(?)" "p.(Asp645Asn)" "13"
"0000121660" "00001847" "50" "2041" "0" "2041" "0" "c.2041C>T" "r.(?)" "p.(Arg681*)" "14"
"0000121661" "00001847" "50" "2041" "0" "2041" "0" "c.2041C>T" "r.(?)" "p.(Arg681*)" "14"
"0000121662" "00001847" "50" "2041" "0" "2041" "0" "c.2041C>T" "r.(?)" "p.(Arg681*)" "14"
"0000121663" "00001847" "50" "2041" "0" "2041" "0" "c.2041C>T" "r.(?)" "p.(Arg681*)" "14"
"0000121664" "00001847" "50" "2041" "0" "2041" "0" "c.2041C>T" "r.(?)" "p.(Arg681*)" "14"
"0000121665" "00001847" "50" "2090" "0" "2090" "0" "c.2090G>A" "r.(?)" "p.(Trp697*)" "14"
"0000121666" "00001847" "50" "2471" "0" "2471" "0" "c.2471T>C" "r.(?)" "p.(Ile824Thr)" "16"
"0000121667" "00001847" "50" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000121668" "00001847" "50" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000121669" "00001847" "50" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000121670" "00001847" "50" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000121671" "00001847" "50" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000121672" "00001847" "50" "2828" "0" "2828" "0" "c.2828G>A" "r.(?)" "p.(Arg943Gln)" "19"
"0000121673" "00001847" "50" "2966" "0" "2966" "0" "c.2966T>C" "r.(?)" "p.(Val989Ala)" "20"
"0000121674" "00001847" "50" "2971" "0" "2971" "0" "c.2971G>C" "r.(?)" "p.(Gly991Arg)" "20"
"0000121675" "00001847" "50" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000121676" "00001847" "50" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000121677" "00001847" "50" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000121678" "00001847" "50" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000121679" "00001847" "50" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000121680" "00001847" "50" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000121681" "00001847" "50" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000121682" "00001847" "50" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000121683" "00001847" "50" "4195" "0" "4195" "0" "c.4195G>A" "r.(?)" "p.(Glu1399Lys)" "28"
"0000121684" "00001847" "50" "4328" "0" "4328" "0" "c.4328G>A" "r.(?)" "p.(Arg1443His)" "29"
"0000121685" "00001847" "50" "4457" "0" "4457" "0" "c.4457C>T" "r.(?)" "p.(Pro1486Leu)" "30"
"0000121686" "00001847" "50" "4462" "0" "4462" "0" "c.4462T>C" "r.(?)" "p.(Cys1488Arg)" "30"
"0000121687" "00001847" "50" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000121688" "00001847" "50" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" "35"
"0000121689" "00001847" "50" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" "35"
"0000121690" "00001847" "50" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.?" "40i"
"0000121691" "00001847" "50" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.?" "40i"
"0000121692" "00001847" "50" "5537" "0" "5537" "0" "c.5537T>C" "r.(?)" "p.(Ile1846Thr)" "39"
"0000121693" "00001847" "50" "5537" "0" "5537" "0" "c.5537T>C" "r.(?)" "p.(Ile1846Thr)" "39"
"0000121694" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000121695" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000121696" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000121697" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000121698" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000121699" "00001847" "50" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" "44"
"0000121700" "00001847" "50" "6104" "0" "6104" "0" "c.6104T>C" "r.(?)" "p.(Leu2035Pro)" "44"
"0000121701" "00001847" "50" "6449" "0" "6449" "0" "c.6449G>A" "r.(?)" "p.(Cys2150Tyr)" "47"
"0000121702" "00001847" "70" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.(?)" "6"
"0000121703" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.(?)" "6"
"0000121704" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.(Gly863Ala)" "17"
"0000121705" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.(?)" "6"
"0000121706" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.(Gly863Ala)" "17"
"0000121707" "00001847" "90" "4773" "1" "4773" "1" "c.4773+1G>A" "r.spl" "p.?" "33i"
"0000121708" "00001847" "70" "4773" "1" "4773" "1" "c.4773+1G>A" "r.spl" "p.?" "33i"
"0000121709" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.(Gly863Ala)" "17"
"0000121710" "00001847" "90" "4773" "1" "4773" "1" "c.4773+1G>A" "r.spl?" "p.?" "33i"
"0000121711" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.(Gly863Ala)" "17"
"0000121712" "00001847" "90" "4773" "1" "4773" "1" "c.4773+1G>A" "r.spl?" "p.?" "33i"
"0000121713" "00001847" "50" "635" "0" "635" "0" "c.635G>A" "r.(?)" "p.(Arg212His)" "6"
"0000121714" "00001847" "30" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(?)" "p.(?)" "38i"
"0000121715" "00001847" "70" "635" "0" "635" "0" "c.635G>A" "r.(?)" "p.(Arg212His)" "6"
"0000121716" "00001847" "30" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.(?)" "6"
"0000121717" "00001847" "70" "635" "0" "635" "0" "c.635G>A" "r.(?)" "p.(Arg212His)" "6"
"0000121718" "00001847" "50" "2919" "-6" "2919" "-6" "c.2919-6C>A" "r.spl?" "p.(?)" "19i"
"0000121719" "00001847" "50" "4253" "4" "4253" "4" "c.4253+4C>T" "r.spl?" "p.(?)" "28i"
"0000121720" "00001847" "50" "2486" "0" "2486" "0" "c.2486C>T" "r.(?)" "p.(Thr829Met)" "16"
"0000121721" "00001847" "30" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000121722" "00001847" "70" "635" "0" "635" "0" "c.635G>A" "r.(?)" "p.(Arg212His)" "6"
"0000121723" "00001847" "50" "160" "0" "160" "0" "c.160T>G" "r.(?)" "p.(Cys54Gly)" "2"
"0000121724" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000121725" "00001847" "70" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000121726" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000121727" "00001847" "70" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000121728" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000121729" "00001847" "70" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000121730" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000121731" "00001847" "70" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000121732" "00001847" "90" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000121733" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000121734" "00001847" "90" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000121735" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000121736" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000121737" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000121738" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000121739" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000121740" "00001847" "90" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000121741" "00001847" "70" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.(?)" "6"
"0000121742" "00001847" "70" "454" "0" "454" "0" "c.454C>T" "r.(?)" "p.(Arg152*)" "5"
"0000121743" "00001847" "90" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000121744" "00001847" "70" "454" "0" "454" "0" "c.454C>T" "r.(?)" "p.(Arg152*)" "5"
"0000121745" "00001847" "90" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000121746" "00001847" "50" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000121747" "00001847" "50" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000121748" "00001847" "50" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000121749" "00001847" "50" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000121750" "00001847" "50" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000121751" "00001847" "50" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000121752" "00001847" "50" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000121753" "00001847" "50" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000121754" "00001847" "50" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000121755" "00001847" "50" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000121756" "00001847" "50" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000121757" "00001847" "50" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000121758" "00001847" "50" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000121759" "00001847" "90" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000121760" "00001847" "70" "6352" "0" "6352" "0" "c.6352del" "r.(?)" "p.(Arg2118Glufs*27)" "46"
"0000121761" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000121762" "00001847" "70" "6112" "0" "6112" "0" "c.6112C>T" "r.(?)" "p.(Arg2038Trp)" "44"
"0000121763" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000121764" "00001847" "70" "6112" "0" "6112" "0" "c.6112C>T" "r.(?)" "p.(Arg2038Trp)" "44"
"0000121765" "00001847" "70" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000121766" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000121767" "00001847" "50" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000121768" "00001847" "50" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000121769" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000121770" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000121771" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000121772" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000121773" "00001847" "90" "454" "0" "454" "0" "c.454C>T" "r.(?)" "p.(Arg152*)" "5"
"0000121774" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.(?)" "6"
"0000121775" "00001847" "90" "454" "0" "454" "0" "c.454C>T" "r.(?)" "p.(Arg152*)" "5"
"0000121776" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.(?)" "6"
"0000121777" "00001847" "50" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.(?)" "6"
"0000121778" "00001847" "50" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.(?)" "6"
"0000121779" "00001847" "50" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000121780" "00001847" "90" "454" "0" "454" "0" "c.454C>T" "r.(?)" "p.(Arg152*)" "5"
"0000121781" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000121782" "00001847" "70" "455" "0" "455" "0" "c.455G>A" "r.(?)" "p.(Arg152Gln)" "5"
"0000121783" "00001847" "30" "2966" "0" "2966" "0" "c.2966T>C" "r.(?)" "p.(Val989Ala)" "20"
"0000121784" "00001847" "90" "4328" "0" "4328" "0" "c.4328G>A" "r.(?)" "p.(Arg1443His)" "29"
"0000121785" "00001847" "70" "6088" "0" "6088" "0" "c.6088C>T" "r.(?)" "p.(Arg2030*)" "44"
"0000121786" "00001847" "70" "6282" "1" "6282" "1" "c.6282+1G>C" "r.spl?" "p.?" "45i"
"0000121787" "00001847" "90" "4319" "0" "4319" "0" "c.4319T>C" "r.(?)" "p.(Phe1440Ser)" "29"
"0000121788" "00001847" "50" "5077" "0" "5077" "0" "c.5077G>A" "r.(?)" "p.(Val1693Ile)" "36"
"0000121789" "00001847" "90" "6757" "0" "6757" "0" "c.6757A>G" "r.(?)" "p.(Thr2253Ala)" "49"
"0000121790" "00001847" "70" "6730" "-10" "6730" "-2" "c.6730-10_6730-2del" "r.spl?" "p.(?)" "48i"
"0000121791" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.?" "40i"
"0000121792" "00001847" "50" "2069" "0" "2069" "0" "c.2069G>T" "r.(?)" "p.(Gly690Val)" "14"
"0000121793" "00001847" "50" "1957" "0" "1957" "0" "c.1957C>T" "r.(?)" "p.(Arg653Cys)" "14"
"0000121794" "00001847" "50" "4956" "0" "4956" "0" "c.4956T>G" "r.(?)" "p.(Tyr1652*)" "35"
"0000121795" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.?" "40i"
"0000121796" "00001847" "50" "6750" "0" "6750" "0" "c.6750del" "r.(?)" "p.(Lys2250Asnfs*60)" "49"
"0000121797" "00001847" "50" "247" "0" "250" "0" "c.247_250dup" "r.(?)" "p.(Ser84Thrfs*16)" "3"
"0000121798" "00001847" "50" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000121799" "00001847" "50" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.?" "40i"
"0000121800" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000121801" "00001847" "70" "52" "0" "52" "0" "c.52C>T" "r.(?)" "p.(Arg18Trp)" "1"
"0000121802" "00001847" "70" "3970" "0" "3970" "0" "c.3970del" "r.(?)" "p.(Ala1324Argfs*65)" "27"
"0000121803" "00001847" "90" "1494" "0" "1494" "0" "c.1494C>A" "r.(?)" "p.(Asp498Glu)" "11"
"0000121804" "00001847" "70" "2099" "0" "2099" "0" "c.2099G>A" "r.(?)" "p.(Trp700*)" "14"
"0000121805" "00001847" "90" "6560" "0" "6560" "0" "c.6560A>C" "r.(?)" "p.(Gln2187Pro)" "48"
"0000121806" "00001847" "70" "3323" "0" "3323" "0" "c.3323G>A" "r.(?)" "p.(Arg1108His)" "22"
"0000121807" "00001847" "70" "5285" "0" "5285" "0" "c.5285C>A" "r.(?)" "p.(Ala1762Asp)" "37"
"0000121808" "00001847" "70" "4667" "1" "4667" "1" "c.4667+1G>A" "r.(?)" "p.(His1838Asn)" "32i"
"0000121809" "00001847" "90" "5512" "0" "5512" "0" "c.5512C>A" "r.(?)" "p.(His1838Asn)" "39"
"0000121810" "00001847" "50" "1957" "0" "1957" "0" "c.1957C>T" "r.(?)" "p.(Arg653Cys)" "14"
"0000121811" "00001847" "90" "3212" "0" "3212" "0" "c.3212C>T" "r.(?)" "p.(Ser1071Leu)" "22"
"0000121812" "00001847" "70" "3607" "0" "3607" "0" "c.3607G>A" "r.spl?" "p.[(Gly1203Arg,?)]" "24"
"0000121813" "00001847" "70" "1648" "0" "1648" "0" "c.1648G>A" "r.(?)" "p.(Gly550Arg)" "12"
"0000121814" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000121815" "00001847" "70" "736" "0" "736" "0" "c.736G>A" "r.(?)" "p.(Ala246Thr)" "6"
"0000121816" "00001847" "50" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.(?)" "6"
"0000121817" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.(?)" "6"
"0000121818" "00001847" "50" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000121819" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.?" "40i"
"0000121820" "00001847" "50" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000121821" "00001847" "50" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.(?)" "6"
"0000121822" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.(?)" "6"
"0000121823" "00001847" "50" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000121824" "00001847" "50" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.(?)" "6"
"0000121825" "00001847" "90" "5018" "2" "5018" "2" "c.5018+2T>C" "r.spl?" "p.(?)" "35i"
"0000121826" "00001847" "70" "6088" "0" "6088" "0" "c.6088C>T" "r.(?)" "p.(Arg2030*)" "44"
"0000121827" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000121828" "00001847" "90" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973*)" "43"
"0000121829" "00001847" "90" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973*)" "43"
"0000121830" "00001847" "90" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973*)" "43"
"0000121831" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.?" "40i"
"0000121832" "00001847" "50" "286" "0" "286" "0" "c.286A>C" "r.(?)" "p.(Asn96His)" "3"
"0000121833" "00001847" "70" "3259" "0" "3259" "0" "c.3259G>A" "r.(?)" "p.(Glu1087Lys)" "22"
"0000121834" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000121835" "00001847" "70" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000121836" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000121837" "00001847" "70" "286" "0" "286" "0" "c.286A>C" "r.(?)" "p.(Asn96His)" "3"
"0000121838" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000121839" "00001847" "70" "247" "0" "250" "0" "c.247_250dup" "r.(?)" "p.(Ser84Thrfs*16)" "3"
"0000121840" "00001847" "70" "286" "0" "286" "0" "c.286A>C" "r.(?)" "p.(Asn96His)" "3"
"0000121841" "00001847" "70" "2183" "0" "2194" "0" "c.2183_2194del" "r.(?)" "p.(Ser728_Phe731del)" "15"
"0000121842" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000121843" "00001847" "70" "4919" "0" "4919" "0" "c.4919G>A" "r.(?)" "p.(Arg1640Gln)" "35"
"0000121844" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000121845" "00001847" "70" "4919" "0" "4919" "0" "c.4919G>A" "r.(?)" "p.(Arg1640Gln)" "35"
"0000121846" "00001847" "90" "4328" "0" "4328" "0" "c.4328G>A" "r.(?)" "p.(Arg1443His)" "29"
"0000121847" "00001847" "70" "5018" "2" "5018" "2" "c.5018+2T>C" "r.spl?" "p.(?)" "35i"
"0000121848" "00001847" "50" "3259" "0" "3259" "0" "c.3259G>A" "r.(?)" "p.(Glu1087Lys)" "22"
"0000121849" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.?" "40i"
"0000121850" "00001847" "90" "2300" "0" "2300" "0" "c.2300T>A" "r.(?)" "p.(Val767Asp)" "15"
"0000121851" "00001847" "70" "6088" "0" "6088" "0" "c.6088C>T" "r.(?)" "p.(Arg2030*)" "44"
"0000121852" "00001847" "70" "2295" "0" "2295" "0" "c.2295T>G" "r.(?)" "p.(Ser765Arg)" "15"
"0000121853" "00001847" "70" "6448" "0" "6448" "0" "c.6448T>C" "r.(?)" "p.(Cys2150Arg)" "47"
"0000121854" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000121855" "00001847" "70" "5018" "2" "5018" "2" "c.5018+2T>C" "r.spl?" "p.(?)" "35i"
"0000121856" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000121857" "00001847" "70" "5018" "2" "5018" "2" "c.5018+2T>C" "r.spl?" "p.(?)" "35i"
"0000121858" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000121859" "00001847" "70" "5018" "2" "5018" "2" "c.5018+2T>C" "r.spl?" "p.(?)" "35i"
"0000121860" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000121861" "00001847" "70" "5018" "2" "5018" "2" "c.5018+2T>C" "r.spl?" "p.(?)" "35i"
"0000121862" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000121863" "00001847" "70" "5018" "2" "5018" "2" "c.5018+2T>C" "r.spl?" "p.(?)" "35i"
"0000121864" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000121865" "00001847" "70" "5018" "2" "5018" "2" "c.5018+2T>C" "r.spl?" "p.(?)" "35i"
"0000121866" "00001847" "90" "735" "0" "735" "0" "c.735T>G" "r.(?)" "p.(Tyr245*)" "?"
"0000121867" "00001847" "50" "735" "0" "735" "0" "c.735T>G" "r.(?)" "p.(Tyr245*)" "6"
"0000121868" "00001847" "90" "6088" "0" "6088" "0" "c.6088C>T" "r.(?)" "p.(Arg2030*)" "44"
"0000121869" "00001847" "90" "6088" "0" "6088" "0" "c.6088C>T" "r.(?)" "p.(Arg2030*)" "44"
"0000121870" "00001847" "90" "6088" "0" "6088" "0" "c.6088C>T" "r.(?)" "p.(Arg2030*)" "44"
"0000121871" "00001847" "90" "1225" "0" "1225" "0" "c.1225del" "r.(?)" "p.(Arg409Glyfs*3)" "9"
"0000121872" "00001847" "90" "1225" "0" "1225" "0" "c.1225del" "r.(?)" "p.(Arg409Glyfs*3)" "9"
"0000121873" "00001847" "90" "6445" "0" "6445" "0" "c.6445C>T" "r.(?)" "p.(Arg2149*)" "47"
"0000121874" "00001847" "70" "6445" "0" "6445" "0" "c.6445C>T" "r.(?)" "p.(Arg2149*)" "47"
"0000121875" "00001847" "90" "1381" "0" "1381" "0" "c.1381A>T" "r.(?)" "p.(Lys461*)" "11"
"0000121876" "00001847" "70" "6445" "0" "6445" "0" "c.6445C>T" "r.(?)" "p.(Arg2149*)" "47"
"0000121877" "00001847" "90" "1381" "0" "1381" "0" "c.1381A>T" "r.(?)" "p.(Lys461*)" "11"
"0000121878" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000121879" "00001847" "70" "6730" "-14" "6759" "0" "c.6730-14_6759del" "r.spl" "p.?" "48i_49"
"0000121880" "00001847" "70" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.(?)" "6"
"0000121881" "00001847" "50" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000121882" "00001847" "50" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000121883" "00001847" "50" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000121884" "00001847" "70" "6559" "0" "6559" "0" "c.6559C>T" "r.(?)" "p.(Gln2187*)" "48"
"0000121885" "00001847" "50" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000121886" "00001847" "70" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000121887" "00001847" "70" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000121888" "00001847" "70" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000121889" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000121890" "00001847" "70" "3364" "0" "3364" "0" "c.3364G>A" "r.(?)" "p.(Glu1122Lys)" "23"
"0000121891" "00001847" "70" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000121892" "00001847" "50" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000121893" "00001847" "70" "5819" "0" "5819" "0" "c.5819T>C" "r.(?)" "p.(Leu1940Pro)" "41"
"0000121894" "00001847" "70" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000121895" "00001847" "70" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000121896" "00001847" "50" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000121897" "00001847" "70" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000121898" "00001847" "70" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000121899" "00001847" "70" "4222" "0" "4222" "0" "c.4222T>C" "r.(?)" "p.(Trp1408Arg)" "28"
"0000121900" "00001847" "70" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" "35"
"0000121901" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000121902" "00001847" "70" "671" "0" "671" "0" "c.671del" "r.(?)" "p.(Thr224Argfs*17)" "6"
"0000121903" "00001847" "70" "5929" "0" "5929" "0" "c.5929G>A" "r.(?)" "p.(Gly1977Ser)" "43"
"0000121904" "00001847" "70" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000121905" "00001847" "70" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000121906" "00001847" "70" "4926" "0" "4926" "0" "c.4926C>G" "r.(?)" "p.(Ser1642Arg)" "35"
"0000121907" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000121908" "00001847" "70" "-1" "0" "6823" "0" "c.-104_*400{0}" "r.0" "p.0" "_1_50_"
"0000121909" "00001847" "70" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000121910" "00001847" "70" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000121911" "00001847" "70" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000121912" "00001847" "70" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000121913" "00001847" "70" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000121914" "00001847" "50" "454" "0" "454" "0" "c.454C>T" "r.(?)" "p.(Arg152*)" "5"
"0000121915" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000121916" "00001847" "70" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973*)" "43"
"0000121917" "00001847" "90" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973*)" "43"
"0000121918" "00001847" "90" "2971" "0" "2971" "0" "c.2971G>T" "r.(?)" "p.(Gly991*)" "20"
"0000121919" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000121920" "00001847" "70" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000121921" "00001847" "70" "731" "0" "731" "0" "c.731T>C" "r.(?)" "p.(Leu244Pro)" "6"
"0000121922" "00001847" "90" "735" "0" "735" "0" "c.735T>G" "r.(?)" "p.(Tyr245*)" "6"
"0000121923" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000121924" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000121925" "00001847" "70" "4848" "2" "4848" "2" "c.4848+2T>C" "r.spl?" "p.(?)" "34i"
"0000121926" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000121927" "00001847" "90" "5196" "3" "5196" "6" "c.5196+3_5196+6del" "r.spl?" "p.(?)" "36i"
"0000121928" "00001847" "50" "3608" "0" "3608" "0" "c.3608G>A" "r.(?)" "p.(Gly1203Glu)" "25"
"0000121929" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000121930" "00001847" "70" "6229" "0" "6229" "0" "c.6229C>T" "r.(?)" "p.(Arg2077Trp)" "45"
"0000121931" "00001847" "70" "1928" "0" "1928" "0" "c.1928T>G" "r.(?)" "p.(Val643Gly)" "13"
"0000121932" "00001847" "30" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000121933" "00001847" "90" "5285" "0" "5285" "0" "c.5285C>A" "r.(?)" "p.(Ala1762Asp)" "37"
"0000121934" "00001847" "70" "3540" "0" "3555" "0" "c.3540_3555del" "r.(?)" "p.(Ser1181Profs*10)" "24"
"0000121935" "00001847" "70" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.(?)" "38i"
"0000121936" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000121937" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.(?)" "38i"
"0000121938" "00001847" "50" "700" "0" "700" "0" "c.700C>T" "r.(?)" "p.(Gln234*)" "6"
"0000121939" "00001847" "50" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(?)" "p.(?)" "38i"
"0000121940" "00001847" "50" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(?)" "p.(?)" "38i"
"0000121941" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.(?)" "38i"
"0000121942" "00001847" "50" "5196" "1" "5196" "1" "c.5196+1G>A" "r.spl" "p.?" "36i"
"0000121943" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.(?)" "38i"
"0000121944" "00001847" "50" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000121945" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.(?)" "38i"
"0000121946" "00001847" "50" "4234" "0" "4234" "0" "c.4234C>T" "r.(?)" "p.(Gln1412*)" "28"
"0000121947" "00001847" "50" "4457" "0" "4457" "0" "c.4457C>T" "r.(?)" "p.(Pro1486Leu)" "30"
"0000121948" "00001847" "70" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.(?)" "38i"
"0000121949" "00001847" "90" "5819" "0" "5819" "0" "c.5819T>C" "r.(?)" "p.(Leu1940Pro)" "41"
"0000121950" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.?" "40i"
"0000121951" "00001847" "90" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973*)" "43"
"0000121952" "00001847" "90" "4462" "0" "4462" "0" "c.4462T>C" "r.(?)" "p.(Cys1488Arg)" "30"
"0000121953" "00001847" "70" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973*)" "43"
"0000121954" "00001847" "50" "6148" "0" "6148" "0" "c.6148G>C" "r.(?)" "p.(?)" "45"
"0000121955" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000121956" "00001847" "50" "466" "0" "466" "0" "c.466A>G" "r.(?)" "p.(Ile156Val)" "5"
"0000121957" "00001847" "50" "2828" "0" "2828" "0" "c.2828G>A" "r.(?)" "p.(Arg943Gln)" "19"
"0000121958" "00001847" "90" "2888" "0" "2888" "0" "c.2888del" "r.(?)" "p.(Gly963Alafs*14)" "19"
"0000121959" "00001847" "50" "6764" "0" "6764" "0" "c.6764G>T" "r.(?)" "p.(Ser2255Ile)" "49"
"0000121960" "00001847" "90" "2888" "0" "2888" "0" "c.2888del" "r.(?)" "p.(Gly963Alafs*14)" "19"
"0000121961" "00001847" "50" "4297" "0" "4297" "0" "c.4297G>A" "r.(?)" "p.(Val1433Ile)" "29"
"0000121962" "00001847" "70" "5929" "0" "5929" "0" "c.5929G>A" "r.(?)" "p.(Gly1977Ser)" "43"
"0000121963" "00001847" "90" "32" "0" "32" "0" "c.32T>C" "r.(?)" "p.(Leu11Pro)" "1"
"0000121964" "00001847" "70" "2888" "0" "2888" "0" "c.2888del" "r.(?)" "p.(Gly963Alafs*14)" "19"
"0000121965" "00001847" "50" "2828" "0" "2828" "0" "c.2828G>A" "r.(?)" "p.(Arg943Gln)" "19"
"0000121966" "00001847" "90" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" "35"
"0000121967" "00001847" "70" "6147" "2" "6147" "2" "c.6147+2T>A" "r.spl" "p.?" "44i"
"0000121968" "00001847" "90" "6179" "0" "6179" "0" "c.6179T>G" "r.(?)" "p.(Leu2060Arg)" "45"
"0000121969" "00001847" "70" "2888" "0" "2888" "0" "c.2888del" "r.(?)" "p.(Gly963Alafs*14)" "19"
"0000121970" "00001847" "70" "5044" "0" "5058" "0" "c.5044_5058del" "r.(?)" "p.(Val1682_Val1686del)" "36"
"0000121975" "00001847" "50" "1140" "0" "1140" "0" "c.1140T>A" "r.(?)" "p.(Asn380Lys)" "9"
"0000121976" "00001847" "50" "5395" "0" "5395" "0" "c.5395A>G" "r.(?)" "p.(Asn1799Asp)" "38"
"0000121977" "00001847" "50" "2828" "0" "2828" "0" "c.2828G>A" "r.(?)" "p.(Arg943Gln)" "19"
"0000121978" "00001847" "30" "2701" "0" "2701" "0" "c.2701A>G" "r.(?)" "p.(Thr901Ala)" "18"
"0000121979" "00001847" "30" "2828" "0" "2828" "0" "c.2828G>A" "r.(?)" "p.(Arg943Gln)" "19"
"0000121980" "00001847" "30" "858" "8" "858" "8" "c.858+8G>T" "r.(?)" "p.(?)" "7i"
"0000121981" "00001847" "50" "6764" "0" "6764" "0" "c.6764G>T" "r.(?)" "p.(Ser2255Ile)" "49"
"0000121982" "00001847" "70" "858" "8" "858" "8" "c.858+8G>T" "r.(?)" "p.(?)" "7i"
"0000121983" "00001847" "50" "2300" "0" "2300" "0" "c.2300T>A" "r.(?)" "p.(Val767Asp)" "15"
"0000121984" "00001847" "30" "858" "8" "858" "8" "c.858+8G>T" "r.(?)" "p.(?)" "7i"
"0000121985" "00001847" "50" "466" "0" "466" "0" "c.466A>G" "r.(?)" "p.(Ile156Val)" "5"
"0000121986" "00001847" "50" "6764" "0" "6764" "0" "c.6764G>T" "r.(?)" "p.(Ser2255Ile)" "49"
"0000121987" "00001847" "50" "6764" "0" "6764" "0" "c.6764G>T" "r.(?)" "p.(Ser2255Ile)" "49"
"0000121988" "00001847" "50" "466" "0" "466" "0" "c.466A>G" "r.(?)" "p.(Ile156Val)" "5"
"0000121989" "00001847" "30" "5466" "0" "5466" "0" "c.5466G>A" "r.(?)" "p.(=)" "39"
"0000121990" "00001847" "50" "2828" "0" "2828" "0" "c.2828G>A" "r.(?)" "p.(Arg943Gln)" "19"
"0000121991" "00001847" "50" "2701" "0" "2701" "0" "c.2701A>G" "r.(?)" "p.(Thr901Ala)" "18"
"0000121992" "00001847" "90" "3449" "0" "3451" "0" "c.3449_3451del" "r.(?)" "p.(Cys1150del)" "23"
"0000121993" "00001847" "90" "4254" "-36" "4254" "-14" "c.4254-36_4254-14del" "r.spl" "p.?" "28i"
"0000121994" "00001847" "90" "4254" "-36" "4254" "-14" "c.4254-36_4254-14del" "r.spl" "p.?" "28i"
"0000121995" "00001847" "90" "4254" "-36" "4254" "-14" "c.4254-36_4254-14del" "r.[4129_4352del,4254_4352del,4254_4466del]" "p.[Ile1377fs,Met1419_Pro1451del,Met1419_1489del]" "28i"
"0000121996" "00001847" "90" "4254" "-36" "4254" "-14" "c.4254-36_4254-14del" "r.spl" "p.?" "28i"
"0000121997" "00001847" "90" "4254" "-36" "4254" "-14" "c.4254-36_4254-14del" "r.spl" "p.?" "28i"
"0000121998" "00001847" "90" "4254" "-36" "4254" "-14" "c.4254-36_4254-14del" "r.spl" "p.?" "28i"
"0000121999" "00001847" "90" "4254" "-36" "4254" "-14" "c.4254-36_4254-14del" "r.spl" "p.?" "28i"
"0000122000" "00001847" "90" "4254" "-36" "4254" "-14" "c.4254-36_4254-14del" "r.spl" "p.?" "28i"
"0000122001" "00001847" "90" "4254" "-36" "4254" "-14" "c.4254-36_4254-14del" "r.spl" "p.?" "28i"
"0000122002" "00001847" "90" "4254" "-36" "4254" "-14" "c.4254-36_4254-14del" "r.spl" "p.?" "28i"
"0000122003" "00001847" "90" "4254" "-36" "4254" "-14" "c.4254-36_4254-14del" "r.spl" "p.?" "28i"
"0000122004" "00001847" "90" "4254" "-36" "4254" "-14" "c.4254-36_4254-14del" "r.spl" "p.?" "28i"
"0000122005" "00001847" "90" "4254" "-36" "4254" "-14" "c.4254-36_4254-14del" "r.spl" "p.?" "28i"
"0000122006" "00001847" "90" "4254" "-36" "4254" "-14" "c.4254-36_4254-14del" "r.spl" "p.?" "28i"
"0000122007" "00001847" "90" "4254" "-36" "4254" "-14" "c.4254-36_4254-14del" "r.spl" "p.?" "28i"
"0000122008" "00001847" "90" "5327" "0" "5327" "0" "c.5327C>T" "r.(?)" "p.(Pro1776Leu)" "38"
"0000122009" "00001847" "70" "3523" "-2" "3523" "-2" "c.3523-2A>T" "r.spl" "p.?" "23i"
"0000122010" "00001847" "90" "5327" "0" "5327" "0" "c.5327C>T" "r.(?)" "p.(Pro1776Leu)" "38"
"0000122011" "00001847" "70" "3523" "-2" "3523" "-2" "c.3523-2A>T" "r.spl" "p.?" "23i"
"0000122012" "00001847" "90" "5327" "0" "5327" "0" "c.5327C>T" "r.(?)" "p.(Pro1776Leu)" "38"
"0000122013" "00001847" "70" "3523" "-2" "3523" "-2" "c.3523-2A>T" "r.spl" "p.?" "23i"
"0000122014" "00001847" "90" "868" "0" "868" "0" "c.868C>T" "r.(?)" "p.(Arg290Trp)" "8"
"0000122015" "00001847" "70" "3523" "-2" "3523" "-2" "c.3523-2A>T" "r.spl" "p.?" "23i"
"0000122016" "00001847" "50" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000122017" "00001847" "70" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.(?)" "6"
"0000122018" "00001847" "70" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000122019" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000122020" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000122021" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000122022" "00001847" "70" "2041" "0" "2041" "0" "c.2041C>T" "r.(?)" "p.(Arg681*)" "14"
"0000122023" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000122024" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000122025" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000122026" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000122027" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000122028" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000122029" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000122030" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.[(Gly863Ala, Gly863del)]" "17"
"0000122031" "00001847" "50" "656" "0" "656" "0" "c.656G>C" "r.(?)" "p.(Arg219Thr)" "6"
"0000122032" "00001847" "70" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000122033" "00001847" "70" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000122034" "00001847" "70" "3259" "0" "3259" "0" "c.3259G>A" "r.(?)" "p.(Glu1087Lys)" "22"
"0000122035" "00001847" "70" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000122036" "00001847" "70" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000122037" "00001847" "70" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000122038" "00001847" "70" "4216" "0" "4216" "0" "c.4216C>T" "r.(?)" "p.(His1406Tyr)" "28"
"0000122039" "00001847" "70" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000122040" "00001847" "70" "4999" "0" "4999" "0" "c.4999C>A" "r.(?)" "p.(Gln1667Lys)" "35"
"0000122041" "00001847" "50" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000122042" "00001847" "50" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000122043" "00001847" "50" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000122044" "00001847" "50" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000122045" "00001847" "50" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000122046" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000122047" "00001847" "70" "2041" "0" "2041" "0" "c.2041C>T" "r.(?)" "p.(Arg681*)" "14"
"0000122048" "00001847" "70" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000122049" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000122050" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000122051" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000122052" "00001847" "70" "2041" "0" "2041" "0" "c.2041C>T" "r.(?)" "p.(Arg681*)" "14"
"0000122053" "00001847" "70" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000122054" "00001847" "50" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000122055" "00001847" "70" "5585" "-10" "5585" "-10" "c.5585-10T>C" "r.(?)" "p.(?)" "39i"
"0000122056" "00001847" "50" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000122057" "00001847" "70" "5584" "6" "5584" "6" "c.5584+6T>C" "r.spl?" "p.(?)" "39i"
"0000122058" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000122059" "00001847" "70" "4234" "0" "4234" "0" "c.4234C>T" "r.(?)" "p.(Gln1412*)" "28"
"0000122060" "00001847" "50" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000122061" "00001847" "50" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000122062" "00001847" "70" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000122063" "00001847" "70" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000122064" "00001847" "50" "194" "0" "194" "0" "c.194G>A" "r.(?)" "p.(Gly65Glu)" "3"
"0000122065" "00001847" "50" "203" "0" "203" "0" "c.203C>T" "r.(?)" "p.(Pro68Leu)" "3"
"0000122066" "00001847" "50" "214" "0" "214" "0" "c.214G>A" "r.(?)" "p.(Gly72Arg)" "3"
"0000122067" "00001847" "50" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000122068" "00001847" "50" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000122069" "00001847" "50" "656" "0" "656" "0" "c.656G>C" "r.(?)" "p.(Arg219Thr)" "6"
"0000122070" "00001847" "50" "656" "0" "656" "0" "c.656G>C" "r.(?)" "p.(Arg219Thr)" "6"
"0000122071" "00001847" "50" "666" "0" "678" "0" "c.666_678del" "r.(?)" "p.(Lys223Metfs*14)" "6"
"0000122072" "00001847" "50" "666" "0" "678" "0" "c.666_678del" "r.(?)" "p.(Lys223Metfs*14)" "6"
"0000122073" "00001847" "50" "666" "0" "678" "0" "c.666_678del" "r.(?)" "p.(Lys223Metfs*14)" "6"
"0000122074" "00001847" "50" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.(?)" "6"
"0000122075" "00001847" "50" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.(?)" "6"
"0000122076" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000122077" "00001847" "50" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000122078" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000122079" "00001847" "50" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000122080" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000122081" "00001847" "50" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000122082" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000122083" "00001847" "50" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000122084" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000122085" "00001847" "50" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000122086" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000122087" "00001847" "50" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000122088" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000122089" "00001847" "50" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000122090" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000122091" "00001847" "50" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000122092" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000122093" "00001847" "50" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000122094" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000122095" "00001847" "50" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000122096" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000122097" "00001847" "50" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000122098" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000122099" "00001847" "50" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000122100" "00001847" "50" "1937" "1" "1937" "1" "c.1937+1G>A" "r.spl" "p.?" "13i"
"0000122101" "00001847" "70" "1648" "0" "1648" "0" "c.1648G>A" "r.(?)" "p.(Gly550Arg)" "12"
"0000122102" "00001847" "90" "1819" "0" "1819" "0" "c.1819G>A" "r.(?)" "p.(Gly607Arg)" "13"
"0000122103" "00001847" "90" "1819" "0" "1819" "0" "c.1819G>A" "r.(?)" "p.(Gly607Arg)" "13"
"0000122104" "00001847" "50" "1822" "0" "1822" "0" "c.1822T>A" "r.(?)" "p.(Phe608Ile)" "13"
"0000122105" "00001847" "50" "1822" "0" "1822" "0" "c.1822T>C" "r.(?)" "p.(Phe608Leu)" "13"
"0000122106" "00001847" "50" "1928" "0" "1928" "0" "c.1928T>G" "r.(?)" "p.(Val643Gly)" "13"
"0000122107" "00001847" "50" "1957" "0" "1957" "0" "c.1957C>T" "r.(?)" "p.(Arg653Cys)" "14"
"0000122108" "00001847" "50" "2300" "0" "2300" "0" "c.2300T>A" "r.(?)" "p.(Val767Asp)" "15"
"0000122109" "00001847" "50" "2564" "0" "2564" "0" "c.2564G>A" "r.(?)" "p.(Trp855*)" "16"
"0000122110" "00001847" "50" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000122111" "00001847" "50" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000122112" "00001847" "50" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000122113" "00001847" "50" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000122114" "00001847" "50" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000122115" "00001847" "50" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000122116" "00001847" "50" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000122117" "00001847" "50" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000122118" "00001847" "50" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000122119" "00001847" "50" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000122120" "00001847" "50" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000122121" "00001847" "50" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000122122" "00001847" "50" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000122123" "00001847" "50" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000122124" "00001847" "50" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000122125" "00001847" "50" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000122126" "00001847" "50" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000122127" "00001847" "50" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000122128" "00001847" "50" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000122129" "00001847" "50" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000122130" "00001847" "50" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000122131" "00001847" "50" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000122132" "00001847" "50" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000122133" "00001847" "50" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000122134" "00001847" "50" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000122135" "00001847" "50" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000122136" "00001847" "50" "2701" "0" "2701" "0" "c.2701A>G" "r.(?)" "p.(Thr901Ala)" "18"
"0000122137" "00001847" "50" "2915" "0" "2915" "0" "c.2915C>A" "r.(?)" "p.(Thr972Asn)" "19"
"0000122138" "00001847" "50" "2915" "0" "2915" "0" "c.2915C>A" "r.(?)" "p.(Thr972Asn)" "19"
"0000122139" "00001847" "50" "3056" "0" "3056" "0" "c.3056C>T" "r.(?)" "p.(Thr1019Met)" "21"
"0000122140" "00001847" "50" "3056" "0" "3056" "0" "c.3056C>T" "r.(?)" "p.(Thr1019Met)" "21"
"0000122141" "00001847" "50" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000122142" "00001847" "50" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000122143" "00001847" "50" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000122144" "00001847" "50" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000122145" "00001847" "50" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000122146" "00001847" "50" "3329" "-2" "3329" "-2" "c.3329-2A>G" "r.spl" "p.?" "22i"
"0000122147" "00001847" "50" "3329" "-2" "3329" "-2" "c.3329-2A>G" "r.spl" "p.?" "22i"
"0000122148" "00001847" "50" "3329" "-2" "3329" "-2" "c.3329-2A>G" "r.spl" "p.?" "22i"
"0000122149" "00001847" "50" "3329" "-2" "3329" "-2" "c.3329-2A>G" "r.spl" "p.?" "22i"
"0000122150" "00001847" "50" "3329" "-2" "3329" "-2" "c.3329-2A>G" "r.spl" "p.?" "22i"
"0000122151" "00001847" "50" "3292" "0" "3292" "0" "c.3292C>T" "r.(?)" "p.(Arg1098Cys)" "22"
"0000122152" "00001847" "50" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000122153" "00001847" "50" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000122154" "00001847" "50" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000122155" "00001847" "50" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000122156" "00001847" "50" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000122157" "00001847" "50" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000122158" "00001847" "50" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000122159" "00001847" "50" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000122160" "00001847" "50" "3758" "0" "3758" "0" "c.3758C>T" "r.(?)" "p.(Thr1253Met)" "25"
"0000122161" "00001847" "50" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000122162" "00001847" "50" "4222" "0" "4222" "0" "c.4222T>C" "r.(?)" "p.(Trp1408Arg)" "28"
"0000122163" "00001847" "50" "4363" "0" "4363" "0" "c.4363T>C" "r.(?)" "p.(Cys1455Arg)" "30"
"0000122164" "00001847" "50" "4462" "0" "4462" "0" "c.4462T>C" "r.(?)" "p.(Cys1488Arg)" "30"
"0000122165" "00001847" "50" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000122166" "00001847" "50" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000122167" "00001847" "50" "4685" "0" "4685" "0" "c.4685T>C" "r.(?)" "p.(Ile1562Thr)" "33"
"0000122168" "00001847" "50" "4685" "0" "4685" "0" "c.4685T>C" "r.(?)" "p.(Ile1562Thr)" "33"
"0000122169" "00001847" "50" "4685" "0" "4685" "0" "c.4685T>C" "r.(?)" "p.(Ile1562Thr)" "33"
"0000122170" "00001847" "50" "4685" "0" "4685" "0" "c.4685T>C" "r.(?)" "p.(Ile1562Thr)" "33"
"0000122171" "00001847" "50" "4854" "0" "4854" "0" "c.4854G>A" "r.(?)" "p.(Trp1618*)" "35"
"0000122172" "00001847" "50" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" "35"
"0000122173" "00001847" "50" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" "35"
"0000122174" "00001847" "50" "4919" "0" "4919" "0" "c.4919G>A" "r.(?)" "p.(Arg1640Gln)" "35"
"0000122175" "00001847" "50" "4667" "2" "4667" "2" "c.4667+2T>G" "r.spl" "p.?" "32i"
"0000122176" "00001847" "50" "4667" "2" "4667" "2" "c.4667+2T>G" "r.spl" "p.?" "32i"
"0000122177" "00001847" "50" "5196" "2" "5196" "2" "c.5196+2T>G" "r.spl?" "p.(?)" "36i"
"0000122178" "00001847" "50" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(?)" "p.(?)" "38i"
"0000122179" "00001847" "50" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(?)" "p.(?)" "38i"
"0000122180" "00001847" "50" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(?)" "p.(?)" "38i"
"0000122181" "00001847" "50" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(?)" "p.(?)" "38i"
"0000122182" "00001847" "50" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(?)" "p.(?)" "38i"
"0000122183" "00001847" "50" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(?)" "p.(?)" "38i"
"0000122184" "00001847" "50" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(?)" "p.(?)" "38i"
"0000122185" "00001847" "50" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(?)" "p.(?)" "38i"
"0000122186" "00001847" "50" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(?)" "p.(?)" "38i"
"0000122187" "00001847" "50" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(?)" "p.(?)" "38i"
"0000122188" "00001847" "50" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(?)" "p.(?)" "38i"
"0000122189" "00001847" "50" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(?)" "p.(?)" "38i"
"0000122190" "00001847" "50" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(?)" "p.(?)" "38i"
"0000122191" "00001847" "50" "5584" "6" "5584" "6" "c.5584+6T>C" "r.spl?" "p.(?)" "39i"
"0000122192" "00001847" "50" "5653" "0" "5653" "0" "c.5653G>A" "r.(?)" "p.(Glu1885Lys)" "40"
"0000122193" "00001847" "50" "5653" "0" "5653" "0" "c.5653G>A" "r.(?)" "p.(Glu1885Lys)" "40"
"0000122194" "00001847" "50" "5653" "0" "5653" "0" "c.5653G>A" "r.(?)" "p.(Glu1885Lys)" "40"
"0000122195" "00001847" "50" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.?" "40i"
"0000122196" "00001847" "50" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.?" "40i"
"0000122197" "00001847" "50" "5653" "0" "5653" "0" "c.5653G>A" "r.(?)" "p.(Glu1885Lys)" "40"
"0000122198" "00001847" "50" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.?" "40i"
"0000122199" "00001847" "50" "5653" "0" "5653" "0" "c.5653G>A" "r.(?)" "p.(Glu1885Lys)" "40"
"0000122200" "00001847" "50" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.?" "40i"
"0000122201" "00001847" "50" "5653" "0" "5653" "0" "c.5653G>A" "r.(?)" "p.(Glu1885Lys)" "40"
"0000122202" "00001847" "50" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.?" "40i"
"0000122203" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000122204" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000122205" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000122206" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000122207" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000122208" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000122209" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000122210" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000122211" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000122212" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000122213" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000122214" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000122215" "00001847" "50" "5908" "0" "5908" "0" "c.5908C>T" "r.(?)" "p.(Leu1970Phe)" "43"
"0000122216" "00001847" "50" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973*)" "43"
"0000122217" "00001847" "50" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973*)" "43"
"0000122218" "00001847" "50" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000122219" "00001847" "50" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" "44"
"0000122220" "00001847" "50" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" "44"
"0000122221" "00001847" "50" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" "44"
"0000122222" "00001847" "50" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" "44"
"0000122223" "00001847" "50" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" "44"
"0000122224" "00001847" "50" "6118" "0" "6118" "0" "c.6118C>T" "r.(?)" "p.(Arg2040*)" "44"
"0000122225" "00001847" "50" "6229" "0" "6229" "0" "c.6229C>T" "r.(?)" "p.(Arg2077Trp)" "45"
"0000122226" "00001847" "50" "6229" "0" "6229" "0" "c.6229C>T" "r.(?)" "p.(Arg2077Trp)" "45"
"0000122227" "00001847" "50" "6229" "0" "6229" "0" "c.6229C>T" "r.(?)" "p.(Arg2077Trp)" "45"
"0000122228" "00001847" "50" "6229" "0" "6229" "0" "c.6229C>T" "r.(?)" "p.(Arg2077Trp)" "45"
"0000122229" "00001847" "50" "6229" "0" "6229" "0" "c.6229C>T" "r.(?)" "p.(Arg2077Trp)" "45"
"0000122230" "00001847" "50" "6229" "0" "6229" "0" "c.6229C>T" "r.(?)" "p.(Arg2077Trp)" "45"
"0000122231" "00001847" "50" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000122232" "00001847" "50" "6449" "0" "6449" "0" "c.6449G>A" "r.(?)" "p.(Cys2150Tyr)" "47"
"0000122233" "00001847" "50" "6529" "0" "6529" "0" "c.6529G>A" "r.(?)" "p.(Asp2177Asn)" "48"
"0000122234" "00001847" "50" "6529" "0" "6529" "0" "c.6529G>A" "r.(?)" "p.(Asp2177Asn)" "48"
"0000122235" "00001847" "50" "1984" "0" "1984" "0" "c.1984dup" "r.(?)" "p.(Ala662Glyfs*104)" "14"
"0000122236" "00001847" "50" "3602" "0" "3602" "0" "c.3602T>G" "r.(?)" "p.(Leu1201Arg)" "24"
"0000122237" "00001847" "50" "3602" "0" "3602" "0" "c.3602T>G" "r.(?)" "p.(Leu1201Arg)" "24"
"0000122238" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000122239" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000122240" "00001847" "50" "1654" "0" "1654" "0" "c.1654G>A" "r.(?)" "p.(Val552Ile)" "12"
"0000122241" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000122242" "00001847" "70" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000122243" "00001847" "70" "6712" "0" "6712" "0" "c.6712C>T" "r.(?)" "p.(Gln2238*)" "48"
"0000122244" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000122245" "00001847" "50" "2971" "0" "2971" "0" "c.2971G>C" "r.(?)" "p.(Gly991Arg)" "20"
"0000122246" "00001847" "50" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000122247" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000122248" "00001847" "50" "4297" "0" "4297" "0" "c.4297G>A" "r.(?)" "p.(Val1433Ile)" "29"
"0000122249" "00001847" "50" "2819" "0" "2819" "0" "c.2819C>G" "r.(?)" "p.(Pro940Arg)" "19"
"0000122250" "00001847" "50" "1522" "0" "1522" "0" "c.1522C>T" "r.(?)" "p.(Arg508Cys)" "11"
"0000122251" "00001847" "50" "3758" "0" "3758" "0" "c.3758C>T" "r.(?)" "p.(Thr1253Met)" "25"
"0000122252" "00001847" "50" "1613" "0" "1613" "0" "c.1613C>A" "r.(?)" "p.(Ala538Asp)" "12"
"0000122253" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000122254" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.?" "40i"
"0000122255" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000122256" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000122257" "00001847" "70" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" "44"
"0000122258" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000122259" "00001847" "70" "5087" "0" "5087" "0" "c.5087G>A" "r.(?)" "p.(Ser1696Asn)" "36"
"0000122260" "00001847" "50" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.?" "40i"
"0000122261" "00001847" "50" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000122262" "00001847" "70" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000122263" "00001847" "70" "3056" "0" "3056" "0" "c.3056C>T" "r.(?)" "p.(Thr1019Met)" "21"
"0000122264" "00001847" "30" "4297" "0" "4297" "0" "c.4297G>A" "r.(?)" "p.(Val1433Ile)" "29"
"0000122265" "00001847" "70" "4793" "0" "4793" "0" "c.4793C>A" "r.(?)" "p.(Ala1598Asp)" "34"
"0000122266" "00001847" "70" "288" "0" "288" "0" "c.288C>A" "r.(?)" "p.(Asn96Lys)" "3"
"0000122267" "00001847" "70" "2933" "0" "2933" "0" "c.2933G>A" "r.(?)" "p.(Gly978Asp)" "20"
"0000122268" "00001847" "70" "4793" "0" "4793" "0" "c.4793C>A" "r.(?)" "p.(Ala1598Asp)" "34"
"0000122269" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000122270" "00001847" "70" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000122271" "00001847" "70" "3056" "0" "3056" "0" "c.3056C>T" "r.(?)" "p.(Thr1019Met)" "21"
"0000122272" "00001847" "50" "2099" "0" "2099" "0" "c.2099G>A" "r.(?)" "p.(Trp700*)" "14"
"0000122273" "00001847" "70" "6750" "0" "6750" "0" "c.6750del" "r.(?)" "p.(Lys2250Asnfs*60)" "49"
"0000122274" "00001847" "90" "2300" "0" "2300" "0" "c.2300T>A" "r.(?)" "p.(Val767Asp)" "15"
"0000122275" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000122276" "00001847" "70" "61" "0" "61" "0" "c.61C>T" "r.(?)" "p.(Gln21*)" "1"
"0000122277" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000122278" "00001847" "70" "3531" "0" "3531" "0" "c.3531C>A" "r.(?)" "p.(Cys1177*)" "24"
"0000122279" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000122280" "00001847" "70" "3531" "0" "3531" "0" "c.3531C>A" "r.(?)" "p.(Cys1177*)" "24"
"0000122281" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000122282" "00001847" "50" "2908" "0" "2908" "0" "c.2908A>C" "r.(?)" "p.(Thr970Pro)" "19"
"0000122283" "00001847" "50" "3043" "0" "3043" "0" "c.3043T>S" "r.(?)" "p.(Phe1015?)" "20"
"0000122284" "00001847" "50" "2908" "0" "2908" "0" "c.2908A>C" "r.(?)" "p.(Thr970Pro)" "19"
"0000122285" "00001847" "50" "3043" "0" "3043" "0" "c.3043T>S" "r.(?)" "p.(Phe1015?)" "20"
"0000122286" "00001847" "70" "1245" "0" "1245" "0" "c.1245C>A" "r.(?)" "p.(Asn415Lys)" "10"
"0000122287" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000122288" "00001847" "90" "327" "0" "327" "0" "c.327dup" "r.(?)" "p.(Gln110Serfs*51)" "4"
"0000122289" "00001847" "70" "4224" "0" "4224" "0" "c.4224G>A" "r.(?)" "p.(Trp1408*)" "28"
"0000122290" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000122291" "00001847" "70" "3531" "0" "3531" "0" "c.3531C>A" "r.(?)" "p.(Cys1177*)" "24"
"0000122292" "00001847" "90" "4793" "0" "4793" "0" "c.4793C>A" "r.(?)" "p.(Ala1598Asp)" "34"
"0000122293" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000122294" "00001847" "70" "61" "0" "61" "0" "c.61C>T" "r.(?)" "p.(Gln21*)" "1"
"0000122295" "00001847" "90" "2908" "0" "2908" "0" "c.2908A>C" "r.(?)" "p.(Thr970Pro)" "19"
"0000122296" "00001847" "90" "3043" "0" "3043" "0" "c.3043T>S" "r.(?)" "p.(Phe1015?)" "20"
"0000122297" "00001847" "70" "2519" "0" "2519" "0" "c.2519T>G" "r.(?)" "p.(Met840Arg)" "16"
"0000122298" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000122299" "00001847" "70" "3531" "0" "3531" "0" "c.3531C>A" "r.(?)" "p.(Cys1177*)" "24"
"0000122300" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000122301" "00001847" "50" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.(?)" "6"
"0000122302" "00001847" "70" "769" "-1" "769" "-1" "c.769-1G>T" "r.spl" "p.?" "6i"
"0000122303" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000122304" "00001847" "90" "6662" "0" "6662" "0" "c.6662T>C" "r.(?)" "p.(Leu2221Pro)" "48"
"0000122305" "00001847" "50" "466" "0" "466" "0" "c.466A>G" "r.(?)" "p.(Ile156Val)" "5"
"0000122306" "00001847" "70" "5110" "0" "5110" "0" "c.5110del" "r.(?)" "p.(Glu1704Serfs*3)" "36"
"0000122307" "00001847" "90" "1239" "1" "1239" "1" "c.1239+1G>C" "r.(?)" "p.(?)" "9i"
"0000122308" "00001847" "90" "3296" "0" "3296" "0" "c.3296C>R" "r.(?)" "p.(Ser1099*)" "22"
"0000122309" "00001847" "90" "5898" "5" "5898" "5" "c.5898+5del" "r.spl?" "p.(?)" "42i"
"0000122310" "00001847" "50" "5018" "2" "5018" "2" "c.5018+2T>C" "r.spl?" "p.(?)" "35i"
"0000122311" "00001847" "50" "6286" "0" "6286" "0" "c.6286G>A" "r.(?)" "p.(Glu2096Lys)" "46"
"0000122312" "00001847" "50" "4253" "5" "4253" "5" "c.4253+5G>A" "r.spl" "p.?" "28i"
"0000122313" "00001847" "50" "4450" "0" "4450" "0" "c.4450C>T" "r.(?)" "p.(Pro1484Ser)" "30"
"0000122314" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000122315" "00001847" "70" "203" "0" "203" "0" "c.203C>T" "r.(?)" "p.(Pro68Leu)" "3"
"0000122316" "00001847" "50" "4450" "0" "4450" "0" "c.4450C>T" "r.(?)" "p.(Pro1484Ser)" "30"
"0000122317" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000122318" "00001847" "70" "203" "0" "203" "0" "c.203C>T" "r.(?)" "p.(Pro68Leu)" "3"
"0000122319" "00001847" "50" "4450" "0" "4450" "0" "c.4450C>T" "r.(?)" "p.(Pro1484Ser)" "30"
"0000122320" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000122321" "00001847" "70" "203" "0" "203" "0" "c.203C>T" "r.(?)" "p.(Pro68Leu)" "3"
"0000122322" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000122323" "00001847" "70" "5961" "0" "5964" "0" "c.5961_5964del" "r.(?)" "p.(Asp1988Profs*3)" "43"
"0000122324" "00001847" "70" "5018" "2" "5018" "2" "c.5018+2T>C" "r.spl?" "p.(?)" "35i"
"0000122325" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000122326" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000122327" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000122328" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000122329" "00001847" "90" "5898" "5" "5898" "5" "c.5898+5del" "r.spl?" "p.(?)" "42i"
"0000122330" "00001847" "50" "5018" "2" "5018" "2" "c.5018+2T>C" "r.spl?" "p.(?)" "35i"
"0000122331" "00001847" "50" "1957" "0" "1957" "0" "c.1957C>T" "r.(?)" "p.(Arg653Cys)" "14"
"0000122332" "00001847" "70" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000122333" "00001847" "70" "3056" "0" "3056" "0" "c.3056C>T" "r.(?)" "p.(Thr1019Met)" "21"
"0000122334" "00001847" "70" "4793" "0" "4793" "0" "c.4793C>A" "r.(?)" "p.(Ala1598Asp)" "34"
"0000122335" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000122336" "00001847" "70" "3233" "0" "3233" "0" "c.3233G>A" "r.(?)" "p.(Gly1078Glu)" "22"
"0000122337" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000122338" "00001847" "50" "3163" "0" "3163" "0" "c.3163C>T" "r.(?)" "p.(Arg1055Trp)" "21"
"0000122339" "00001847" "70" "4020" "0" "4021" "0" "c.4020_4021insN[24]" "r.(?)" "p.(?)" "27"
"0000122340" "00001847" "50" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" "31"
"0000122341" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000122342" "00001847" "70" "4436" "0" "4436" "0" "c.4436G>A^4437G>A" "r.(?)" "p.(Trp1479*)" "30"
"0000122343" "00001847" "90" "6419" "0" "6419" "0" "c.6419T>A" "r.(?)" "p.(Leu2140Gln)" "47"
"0000122344" "00001847" "70" "4436" "0" "4436" "0" "c.4436G>A^4437G>A" "r.(?)" "p.(Trp1479*)" "30"
"0000122345" "00001847" "90" "6419" "0" "6419" "0" "c.6419T>A" "r.(?)" "p.(Leu2140Gln)" "47"
"0000122346" "00001847" "70" "4382" "0" "4382" "0" "c.4382G>A^4383G>A" "r.(?)" "p.(Trp1461*)" "30"
"0000122347" "00001847" "90" "5929" "0" "5929" "0" "c.5929G>A" "r.(?)" "p.(Gly1977Ser)" "43"
"0000122348" "00001847" "90" "3292" "0" "3292" "0" "c.3292C>T" "r.(?)" "p.(Arg1098Cys)" "22"
"0000122349" "00001847" "70" "6545" "0" "6548" "0" "c.6545_6548dup" "r.(?)" "p.(Pro2184Glufs*68)" "48"
"0000122350" "00001847" "90" "2929" "0" "2929" "0" "c.2929A>C" "r.(?)" "p.(Thr977Pro)" "20"
"0000122351" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.?" "40i"
"0000122352" "00001847" "90" "2069" "0" "2069" "0" "c.2069G>T" "r.(?)" "p.(Gly690Val)" "14"
"0000122353" "00001847" "70" "3994" "0" "3994" "0" "c.3994C>T" "r.(?)" "p.(Gln1332*)" "27"
"0000122354" "00001847" "90" "1714" "0" "1714" "0" "c.1714C>T" "r.(?)" "p.(Arg572*)" "12"
"0000122355" "00001847" "90" "4417" "0" "4417" "0" "c.4417C>A" "r.(?)" "p.(Leu1473Met)" "30"
"0000122356" "00001847" "90" "4734" "0" "4737" "0" "c.4734_4737del" "r.(?)" "p.(Phe1579*)" "33"
"0000122357" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.?" "40i"
"0000122358" "00001847" "90" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973*)" "43"
"0000122359" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.?" "40i"
"0000122360" "00001847" "90" "6750" "0" "6750" "0" "c.6750del" "r.(?)" "p.(Lys2250Asnfs*60)" "49"
"0000122361" "00001847" "50" "247" "0" "250" "0" "c.247_250dup" "r.(?)" "p.(Ser84Thrfs*16)" "3"
"0000122362" "00001847" "50" "247" "0" "250" "0" "c.247_250dup" "r.(?)" "p.(Ser84Thrfs*16)" "3"
"0000122363" "00001847" "70" "286" "0" "286" "0" "c.286A>C" "r.(?)" "p.(Asn96His)" "3"
"0000122364" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000122365" "00001847" "90" "2461" "0" "2461" "0" "c.2461T>A" "r.(?)" "p.(Trp821Arg)" "16"
"0000122366" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.?" "40i"
"0000122367" "00001847" "70" "2791" "0" "2791" "0" "c.2791G>A" "r.(?)" "p.(Val931Met)" "19"
"0000122368" "00001847" "70" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000122369" "00001847" "90" "2300" "0" "2300" "0" "c.2300T>A" "r.(?)" "p.(Val767Asp)" "15"
"0000122370" "00001847" "70" "6088" "0" "6088" "0" "c.6088C>T" "r.(?)" "p.(Arg2030*)" "44"
"0000122371" "00001847" "70" "514" "0" "514" "0" "c.514G>A" "r.(?)" "p.(Gly172Ser)" "5"
"0000122372" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000122373" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000122374" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000122375" "00001847" "70" "1846" "0" "1846" "0" "c.1846G>A" "r.(?)" "p.(Glu616Lys)" "13"
"0000122376" "00001847" "50" "4739" "0" "4739" "0" "c.4739T>C" "r.(?)" "p.(Leu1580Ser)" "33"
"0000122377" "00001847" "70" "6515" "0" "6515" "0" "c.6515A>G" "r.(?)" "p.(Lys2172Arg)" "48"
"0000122378" "00001847" "70" "247" "0" "250" "0" "c.247_250dup" "r.(?)" "p.(Ser84Thrfs*16)" "3"
"0000122379" "00001847" "90" "5087" "0" "5087" "0" "c.5087G>A" "r.(?)" "p.(Ser1696Asn)" "36"
"0000122380" "00001847" "70" "5018" "2" "5018" "2" "c.5018+2T>C" "r.spl?" "p.(?)" "35i"
"0000122381" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000122382" "00001847" "90" "1937" "1" "1937" "1" "c.1937+1G>A" "r.spl" "p.?" "13i"
"0000122383" "00001847" "90" "4128" "0" "4128" "0" "c.4128G>A" "r.(?)" "p.(=, ?)" "27"
"0000122384" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000122385" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000122386" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000122387" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000122388" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.?" "40i"
"0000122389" "00001847" "70" "3259" "0" "3259" "0" "c.3259G>A" "r.(?)" "p.(Glu1087Lys)" "22"
"0000122390" "00001847" "70" "5929" "0" "5929" "0" "c.5929G>A" "r.(?)" "p.(Gly1977Ser)" "43"
"0000122391" "00001847" "70" "3056" "0" "3056" "0" "c.3056C>T" "r.(?)" "p.(Thr1019Met)" "21"
"0000122392" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000122393" "00001847" "70" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000122394" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000122395" "00001847" "50" "247" "0" "250" "0" "c.247_250dup" "r.(?)" "p.(Ser84Thrfs*16)" "3"
"0000122396" "00001847" "50" "286" "0" "286" "0" "c.286A>G" "r.(?)" "p.(Asn96Asp)" "3"
"0000122397" "00001847" "50" "286" "0" "286" "0" "c.286A>G" "r.(?)" "p.(Asn96Asp)" "3"
"0000122398" "00001847" "50" "455" "0" "455" "0" "c.455G>A" "r.(?)" "p.(Arg152Gln)" "5"
"0000122399" "00001847" "50" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000122400" "00001847" "50" "688" "0" "688" "0" "c.688T>A" "r.(?)" "p.(Cys230Ser)" "6"
"0000122401" "00001847" "50" "571" "-1" "571" "-1" "c.571-1G>T" "r.spl" "p.?" "5i"
"0000122402" "00001847" "50" "571" "-1" "571" "-1" "c.571-1G>T" "r.spl" "p.?" "5i"
"0000122403" "00001847" "50" "571" "-1" "571" "-1" "c.571-1G>T" "r.spl" "p.?" "5i"
"0000122404" "00001847" "50" "571" "-1" "571" "-1" "c.571-1G>T" "r.spl" "p.?" "5i"
"0000122405" "00001847" "50" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.(?)" "6"
"0000122406" "00001847" "50" "998" "0" "998" "0" "c.998G>A" "r.(?)" "p.(Arg333Gln)" "8"
"0000122407" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000122408" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000122409" "00001847" "90" "1714" "0" "1714" "0" "c.1714C>T" "r.(?)" "p.(Arg572*)" "12"
"0000122410" "00001847" "90" "1714" "0" "1714" "0" "c.1714C>T" "r.(?)" "p.(Arg572*)" "12"
"0000122411" "00001847" "90" "1819" "0" "1819" "0" "c.1819G>A" "r.(?)" "p.(Gly607Arg)" "13"
"0000122412" "00001847" "50" "1852" "0" "1852" "0" "c.1852G>A" "r.(?)" "p.(Gln618Arg)" "13"
"0000122413" "00001847" "50" "1852" "0" "1852" "0" "c.1852G>A" "r.(?)" "p.(Gln618Arg)" "13"
"0000122414" "00001847" "50" "1957" "0" "1957" "0" "c.1957C>T" "r.(?)" "p.(Arg653Cys)" "14"
"0000122415" "00001847" "50" "2099" "0" "2099" "0" "c.2099G>A" "r.(?)" "p.(Trp700*)" "14"
"0000122416" "00001847" "50" "2461" "0" "2461" "0" "c.2461T>A" "r.(?)" "p.(Trp821Arg)" "16"
"0000122417" "00001847" "50" "2909" "0" "2909" "0" "c.2909C>T" "r.(?)" "p.(Thr970Ile)" "19"
"0000122418" "00001847" "50" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000122419" "00001847" "50" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000122420" "00001847" "50" "3295" "0" "3295" "0" "c.3295T>C" "r.(?)" "p.(Ser1099Pro)" "22"
"0000122421" "00001847" "50" "3259" "0" "3259" "0" "c.3259G>A" "r.(?)" "p.(Glu1087Lys)" "22"
"0000122422" "00001847" "50" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000122423" "00001847" "50" "4328" "0" "4328" "0" "c.4328G>A" "r.(?)" "p.(Arg1443His)" "29"
"0000122424" "00001847" "50" "3970" "0" "3970" "0" "c.3970del" "r.(?)" "p.(Ala1324Argfs*65)" "27"
"0000122425" "00001847" "50" "4417" "0" "4417" "0" "c.4417C>A" "r.(?)" "p.(Leu1473Met)" "30"
"0000122426" "00001847" "50" "4417" "0" "4417" "0" "c.4417C>A" "r.(?)" "p.(Leu1473Met)" "30"
"0000122427" "00001847" "50" "4537" "0" "4537" "0" "c.4537dup" "r.(?)" "p.(Gln1513Profs*42)" "30"
"0000122428" "00001847" "50" "4537" "0" "4537" "0" "c.4537dup" "r.(?)" "p.(Gln1513Profs*42)" "30"
"0000122429" "00001847" "50" "4735" "0" "4739" "0" "c.4735_4739delinsCC" "r.(?)" "p.(Phe1579_Leu1580delinsPro)" "33"
"0000122430" "00001847" "50" "4793" "0" "4793" "0" "c.4793C>A" "r.(?)" "p.(Ala1598Asp)" "34"
"0000122431" "00001847" "50" "4956" "0" "4956" "0" "c.4956T>G" "r.(?)" "p.(Tyr1652*)" "35"
"0000122432" "00001847" "50" "5018" "2" "5018" "2" "c.5018+2T>C" "r.spl?" "p.(?)" "35i"
"0000122433" "00001847" "50" "5087" "0" "5087" "0" "c.5087G>A" "r.(?)" "p.(Ser1696Asn)" "36"
"0000122434" "00001847" "50" "5300" "0" "5300" "0" "c.5300T>C" "r.(?)" "p.(Leu1767Pro)" "37"
"0000122435" "00001847" "50" "5318" "0" "5318" "0" "c.5318C>T" "r.(?)" "p.(Ala1773Val)" "38"
"0000122436" "00001847" "50" "5318" "0" "5318" "0" "c.5318C>T" "r.(?)" "p.(Ala1773Val)" "38"
"0000122437" "00001847" "50" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.?" "40i"
"0000122438" "00001847" "50" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.?" "40i"
"0000122439" "00001847" "50" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.?" "40i"
"0000122440" "00001847" "50" "5836" "-2" "5836" "-2" "c.5836-2del" "r.spl" "p.?" "41i"
"0000122441" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000122442" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000122443" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000122444" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000122445" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000122446" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000122447" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000122448" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000122449" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000122450" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000122451" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000122452" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000122453" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000122454" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000122455" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000122456" "00001847" "50" "5921" "0" "5921" "0" "c.5921A>G" "r.(?)" "p.(Asn1974Ser)" "43"
"0000122457" "00001847" "50" "6122" "0" "6122" "0" "c.6122G>A" "r.(?)" "p.(Gly2041Asp)" "44"
"0000122458" "00001847" "50" "6220" "0" "6220" "0" "c.6220G>A" "r.(?)" "p.(Gly2074Ser)" "45"
"0000122459" "00001847" "50" "6437" "0" "6438" "0" "c.6437_6438delinsT" "r.(?)" "p.(Gly2146Valfs*24)" "47"
"0000122460" "00001847" "70" "5413" "0" "5413" "0" "c.5413A>G" "r.(?)" "p.(Asn1805Asp)" "38"
"0000122461" "00001847" "50" "5413" "0" "5413" "0" "c.5413A>G" "r.(?)" "p.(Asn1805Asp)" "38"
"0000122462" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000122463" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000122464" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000122465" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000122466" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000122467" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000122468" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000122469" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000122470" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000122471" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000122472" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000122473" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000122474" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000122475" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000122476" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000122477" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000122478" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000122479" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000122480" "00001847" "70" "3050" "5" "3050" "5" "c.3050+5G>A" "r.spl" "p.?" "20i"
"0000122481" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000122482" "00001847" "70" "3050" "5" "3050" "5" "c.3050+5G>A" "r.spl" "p.?" "20i"
"0000122483" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000122484" "00001847" "70" "1908" "0" "1908" "0" "c.1908G>T" "r.(?)" "p.(Gln636His)" "13"
"0000122485" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000122486" "00001847" "70" "6229" "0" "6229" "0" "c.6229C>T" "r.(?)" "p.(Arg2077Trp)" "45"
"0000122487" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000122488" "00001847" "70" "3758" "0" "3758" "0" "c.3758C>T" "r.(?)" "p.(Thr1253Met)" "25"
"0000122489" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000122490" "00001847" "70" "161" "0" "161" "0" "c.161G>A" "r.(?)" "p.(Cys54Tyr, ?)" "3"
"0000122491" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000122492" "00001847" "70" "4594" "0" "4594" "0" "c.4594G>A" "r.(?)" "p.(Asp1532Asn)" "31"
"0000122493" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000122494" "00001847" "50" "655" "0" "655" "0" "c.655A>T" "r.(?)" "p.(Arg219*)" "6"
"0000122495" "00001847" "90" "5312" "3" "5312" "3" "c.5312+3A>T" "r.spl?" "p.(?)" "37i"
"0000122496" "00001847" "50" "655" "0" "655" "0" "c.655A>T" "r.(?)" "p.(Arg219*)" "6"
"0000122497" "00001847" "90" "5312" "3" "5312" "3" "c.5312+3A>T" "r.spl?" "p.(?)" "37i"
"0000122498" "00001847" "70" "286" "0" "286" "0" "c.286A>G" "r.(?)" "p.(Asn96Asp)" "3"
"0000122499" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000122500" "00001847" "70" "286" "0" "286" "0" "c.286A>G" "r.(?)" "p.(Asn96Asp)" "3"
"0000122501" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000122502" "00001847" "70" "286" "0" "286" "0" "c.286A>G" "r.(?)" "p.(Asn96Asp)" "3"
"0000122503" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000122504" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000122505" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.?" "40i"
"0000122506" "00001847" "90" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071Cysfs*14)" "22"
"0000122507" "00001847" "90" "32" "0" "32" "0" "c.32T>C" "r.(?)" "p.(Leu11Pro)" "1"
"0000122508" "00001847" "70" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.0?" "1"
"0000122509" "00001847" "70" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" "44"
"0000122510" "00001847" "50" "868" "0" "868" "0" "c.868C>T" "r.(?)" "p.(Arg290Trp)" "8"
"0000122511" "00001847" "50" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000122512" "00001847" "30" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000122513" "00001847" "30" "3602" "0" "3602" "0" "c.3602T>G" "r.(?)" "p.(Leu1201Arg)" "24"
"0000122514" "00001847" "90" "2" "0" "2" "0" "c.2T>C" "r.(?)" "p.0?" "1"
"0000122515" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000122516" "00001847" "70" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071Cysfs*14)" "22"
"0000122517" "00001847" "50" "4926" "0" "4926" "0" "c.4926C>G" "r.(?)" "p.(Ser1642Arg)" "35"
"0000122518" "00001847" "70" "5044" "0" "5058" "0" "c.5044_5058del" "r.(?)" "p.(Val1682_Val1686del)" "36"
"0000122519" "00001847" "70" "32" "0" "32" "0" "c.32T>C" "r.(?)" "p.(Leu11Pro)" "1"
"0000122520" "00001847" "70" "4720" "0" "4720" "0" "c.4720G>T" "r.(?)" "p.(Glu1574*)" "33"
"0000122521" "00001847" "90" "2791" "0" "2791" "0" "c.2791G>A" "r.(?)" "p.(Val931Met)" "19"
"0000122522" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000122523" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000122524" "00001847" "90" "4036" "0" "4037" "0" "c.4036_4037del" "r.(?)" "p.(Thr1346Glyfs*75)" "27"
"0000122525" "00001847" "90" "400" "0" "400" "0" "c.400C>T" "r.(?)" "p.(Gln134*)" "4"
"0000122526" "00001847" "90" "4036" "0" "4037" "0" "c.4036_4037del" "r.(?)" "p.(Thr1346Glyfs*75)" "27"
"0000122527" "00001847" "90" "400" "0" "400" "0" "c.400C>T" "r.(?)" "p.(Gln134*)" "4"
"0000122528" "00001847" "50" "1928" "0" "1928" "0" "c.1928T>G" "r.(?)" "p.(Val643Gly)" "13"
"0000122529" "00001847" "50" "32" "0" "32" "0" "c.32T>C" "r.(?)" "p.(Leu11Pro)" "1"
"0000122530" "00001847" "70" "32" "0" "32" "0" "c.32T>C" "r.(?)" "p.(Leu11Pro)" "1"
"0000122531" "00001847" "70" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000122532" "00001847" "70" "2791" "0" "2791" "0" "c.2791G>A" "r.(?)" "p.(Val931Met)" "19"
"0000122533" "00001847" "70" "4926" "0" "4926" "0" "c.4926C>G" "r.(?)" "p.(Ser1642Arg)" "35"
"0000122534" "00001847" "50" "4926" "0" "4926" "0" "c.4926C>G" "r.(?)" "p.(Ser1642Arg)" "35"
"0000122535" "00001847" "70" "5044" "0" "5058" "0" "c.5044_5058del" "r.(?)" "p.(Val1682_Val1686del)" "36"
"0000122536" "00001847" "30" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000122537" "00001847" "70" "3602" "0" "3602" "0" "c.3602T>G" "r.(?)" "p.(Leu1201Arg)" "24"
"0000122538" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000122539" "00001847" "70" "108" "0" "108" "0" "c.108del" "r.(?)" "p.(Leu37Trpfs*3)" "2"
"0000122540" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000122541" "00001847" "70" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.(?)" "38i"
"0000122542" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000122543" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000122544" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000122545" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000122546" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000122547" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000122548" "00001847" "50" "560" "0" "560" "0" "c.560G>A" "r.(?)" "p.(Arg187His)" "5"
"0000122549" "00001847" "50" "560" "0" "560" "0" "c.560G>A" "r.(?)" "p.(Arg187His)" "5"
"0000122550" "00001847" "50" "700" "0" "700" "0" "c.700C>T" "r.(?)" "p.(Gln234*)" "6"
"0000122551" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000122552" "00001847" "90" "1029" "0" "1029" "0" "c.1029dup" "r.(?)" "p.(Asn344*)" "8"
"0000122553" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000122554" "00001847" "50" "2285" "0" "2285" "0" "c.2285C>A" "r.(?)" "p.(Ala762Glu)" "15"
"0000122555" "00001847" "50" "2861" "0" "2861" "0" "c.2861A>C" "r.(?)" "p.(Tyr954Ser)" "19"
"0000122556" "00001847" "50" "5929" "0" "5929" "0" "c.5929G>A" "r.(?)" "p.(Gly1977Ser)" "43"
"0000122557" "00001847" "90" "3329" "-2" "3329" "-2" "c.3329-2A>G" "r.spl" "p.?" "22i"
"0000122558" "00001847" "50" "3943" "0" "3943" "0" "c.3943C>T" "r.(?)" "p.(Gln1315*)" "27"
"0000122559" "00001847" "50" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071Cysfs*14)" "22"
"0000122560" "00001847" "90" "4537" "0" "4537" "0" "c.4537del" "r.(?)" "p.(Gln1513Argfs*13)" "30"
"0000122561" "00001847" "50" "4739" "0" "4739" "0" "c.4739del" "r.(?)" "p.(Leu1580*)" "33"
"0000122562" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000122563" "00001847" "50" "5172" "0" "5172" "0" "c.5172G>T" "r.(?)" "p.(Trp1724Cys)" "36"
"0000122564" "00001847" "70" "4457" "0" "4457" "0" "c.4457C>T" "r.(?)" "p.(Pro1486Leu)" "30"
"0000122565" "00001847" "50" "5172" "0" "5172" "0" "c.5172G>T" "r.(?)" "p.(Trp1724Cys)" "36"
"0000122566" "00001847" "50" "3323" "0" "3323" "0" "c.3323G>A" "r.(?)" "p.(Arg1108His)" "22"
"0000122567" "00001847" "50" "5460" "5" "5460" "5" "c.5460+5G>A" "r.spl?" "p.(?)" "38i"
"0000122568" "00001847" "50" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071Cysfs*14)" "22"
"0000122569" "00001847" "70" "5630" "0" "5644" "0" "c.5630_5644dup" "r.(?)" "p.(Lys1877_Ala1881dup)" "40"
"0000122570" "00001847" "50" "5929" "0" "5929" "0" "c.5929G>A" "r.(?)" "p.(Gly1977Ser)" "43"
"0000122571" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000122572" "00001847" "50" "3056" "0" "3056" "0" "c.3056C>T" "r.(?)" "p.(Thr1019Met)" "21"
"0000122573" "00001847" "70" "6140" "0" "6140" "0" "c.6140T>A" "r.(?)" "p.(Ile2047Asn)" "44"
"0000122574" "00001847" "50" "6559" "0" "6559" "0" "c.6559C>T" "r.(?)" "p.(Gln2187*)" "48"
"0000122575" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000122576" "00001847" "50" "286" "0" "286" "0" "c.286A>G" "r.(?)" "p.(Asn96Asp)" "3"
"0000122577" "00001847" "50" "656" "0" "656" "0" "c.656G>C" "r.(?)" "p.(Arg219Thr)" "6"
"0000122578" "00001847" "50" "740" "0" "740" "0" "c.740A>T" "r.(?)" "p.(Asn247Ile)" "6"
"0000122579" "00001847" "50" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.(?)" "6"
"0000122580" "00001847" "50" "899" "0" "899" "0" "c.899C>A" "r.(?)" "p.(Thr300Asn)" "8"
"0000122581" "00001847" "90" "1805" "0" "1805" "0" "c.1805G>A" "r.(?)" "p.(Arg602Gln)" "13"
"0000122582" "00001847" "50" "1822" "0" "1822" "0" "c.1822T>A" "r.(?)" "p.(Phe608Ile)" "13"
"0000122583" "00001847" "50" "1853" "0" "1853" "0" "c.1853G>A" "r.(?)" "p.(Gly618Glu)" "13"
"0000122584" "00001847" "50" "1938" "-1" "1938" "-1" "c.1938-1G>A" "r.spl" "p.?" "13i"
"0000122585" "00001847" "50" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000122586" "00001847" "50" "2919" "0" "2919" "0" "c.2919del" "r.(?)" "p.(Leu973Phefs*4)" "20"
"0000122587" "00001847" "50" "3335" "0" "3335" "0" "c.3335C>A" "r.(?)" "p.(Thr1112Asn)" "23"
"0000122588" "00001847" "50" "3874" "0" "3874" "0" "c.3874C>T" "r.(?)" "p.(Gln1292*)" "27"
"0000122589" "00001847" "50" "3899" "0" "3899" "0" "c.3899G>A" "r.(?)" "p.(Arg1300Gln)" "27"
"0000122590" "00001847" "50" "4297" "0" "4297" "0" "c.4297G>A" "r.(?)" "p.(Val1433Ile)" "29"
"0000122591" "00001847" "50" "4462" "0" "4462" "0" "c.4462T>C" "r.(?)" "p.(Cys1488Arg)" "30"
"0000122592" "00001847" "50" "4506" "0" "4506" "0" "c.4506C>A" "r.(?)" "p.(Cys1502*)" "30"
"0000122593" "00001847" "50" "4539" "1" "4539" "1" "c.4539+1G>T" "r.spl" "p.?" "30i"
"0000122594" "00001847" "50" "4773" "1" "4773" "1" "c.4773+1G>A" "r.spl" "p.?" "33i"
"0000122595" "00001847" "50" "5161" "0" "5162" "0" "c.5161_5162del" "r.(?)" "p.(Thr1721Hisfs*65)" "36"
"0000122596" "00001847" "50" "5337" "0" "5337" "0" "c.5337C>A" "r.(?)" "p.(Tyr1779*)" "38"
"0000122597" "00001847" "50" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(?)" "p.(?)" "38i"
"0000122598" "00001847" "50" "5537" "0" "5537" "0" "c.5537T>C" "r.(?)" "p.(Ile1846Thr)" "39"
"0000122599" "00001847" "50" "5693" "0" "5693" "0" "c.5693G>A" "r.(?)" "p.(Arg1898His)" "40"
"0000122600" "00001847" "50" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.?" "40i"
"0000122601" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000122602" "00001847" "50" "6088" "0" "6088" "0" "c.6088C>T" "r.(?)" "p.(Arg2030*)" "44"
"0000122603" "00001847" "50" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" "44"
"0000122604" "00001847" "50" "6238" "0" "6239" "0" "c.6238_6239del" "r.(?)" "p.(Ser2080Hisfs*16)" "45"
"0000122605" "00001847" "50" "6529" "0" "6529" "0" "c.6529G>A" "r.(?)" "p.(Asp2177Asn)" "48"
"0000122606" "00001847" "50" "302" "4" "302" "4" "c.302+4A>C" "r.spl?" "p.(?)" "3i"
"0000122607" "00001847" "50" "872" "0" "872" "0" "c.872C>T" "r.(?)" "p.(Pro291Leu)" "8"
"0000122608" "00001847" "50" "2906" "0" "2906" "0" "c.2906A>G" "r.(?)" "p.(Lys969Arg)" "19"
"0000122609" "00001847" "50" "2947" "0" "2947" "0" "c.2947A>G" "r.(?)" "p.(Thr983Ala)" "20"
"0000122610" "00001847" "50" "3233" "0" "3233" "0" "c.3233G>A" "r.(?)" "p.(Gly1078Glu)" "22"
"0000122611" "00001847" "50" "3305" "0" "3305" "0" "c.3305A>T" "r.(?)" "p.(Asp1102Val)" "22"
"0000122612" "00001847" "50" "4352" "1" "4352" "1" "c.4352+1G>A" "r.spl" "p.?" "29i"
"0000122613" "00001847" "50" "5113" "0" "5113" "0" "c.5113C>T" "r.(?)" "p.(Arg1705Trp)" "36"
"0000122614" "00001847" "50" "5762" "0" "5763" "0" "c.5762_5763dup" "r.(?)" "p.(Ala1922Trpfs*18)" "41"
"0000122615" "00001847" "50" "6411" "0" "6411" "0" "c.6411T>A" "r.(?)" "p.(Cys2137*)" "47"
"0000122616" "00001847" "50" "286" "0" "286" "0" "c.286A>G" "r.(?)" "p.(Asn96Asp)" "3"
"0000122617" "00001847" "50" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.(?)" "6"
"0000122618" "00001847" "50" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.(?)" "6"
"0000122619" "00001847" "50" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.(?)" "6"
"0000122620" "00001847" "50" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.(?)" "6"
"0000122621" "00001847" "50" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.(?)" "6"
"0000122622" "00001847" "50" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.(?)" "6"
"0000122623" "00001847" "50" "1822" "0" "1822" "0" "c.1822T>A" "r.(?)" "p.(Phe608Ile)" "13"
"0000122624" "00001847" "50" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000122625" "00001847" "50" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000122626" "00001847" "50" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000122627" "00001847" "50" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000122628" "00001847" "50" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000122629" "00001847" "50" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000122630" "00001847" "50" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000122631" "00001847" "50" "2919" "0" "2919" "0" "c.2919del" "r.(?)" "p.(Leu973Phefs*4)" "20"
"0000122632" "00001847" "50" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(?)" "p.(?)" "38i"
"0000122633" "00001847" "50" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(?)" "p.(?)" "38i"
"0000122634" "00001847" "50" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(?)" "p.(?)" "38i"
"0000122635" "00001847" "50" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(?)" "p.(?)" "38i"
"0000122636" "00001847" "50" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(?)" "p.(?)" "38i"
"0000122637" "00001847" "50" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(?)" "p.(?)" "38i"
"0000122638" "00001847" "50" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(?)" "p.(?)" "38i"
"0000122639" "00001847" "50" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(?)" "p.(?)" "38i"
"0000122640" "00001847" "50" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.?" "40i"
"0000122641" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000122642" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000122643" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000122644" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000122645" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000122646" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000122647" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000122648" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000122649" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000122650" "00001847" "50" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.(?)" "6"
"0000122651" "00001847" "90" "160" "0" "160" "0" "c.160T>G" "r.(?)" "p.(Cys54Gly, ?)" "2"
"0000122652" "00001847" "90" "160" "0" "160" "0" "c.160T>G" "r.(?)" "p.(Cys54Gly, ?)" "2"
"0000122653" "00001847" "90" "160" "0" "160" "0" "c.160T>G" "r.(?)" "p.(Cys54Gly, ?)" "2"
"0000122654" "00001847" "50" "6729" "5" "6729" "19" "c.6729+5_6729+19del" "r.spl?" "p.(?)" "48i"
"0000122655" "00001847" "70" "1715" "0" "1715" "0" "c.1715G>A" "r.(?)" "p.(Arg572Gln)" "12"
"0000122656" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.[(Gly863Ala, Gly863del)]" "17"
"0000122657" "00001847" "50" "2560" "0" "2560" "0" "c.2560G>A" "r.(?)" "p.(Ala854Thr)" "16"
"0000122658" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000122659" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000122660" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000122661" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000122662" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000122663" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000122664" "00001847" "90" "2041" "0" "2041" "0" "c.2041C>T" "r.(?)" "p.(Arg681*)" "14"
"0000122665" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000122666" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000122667" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000122668" "00001847" "90" "6449" "0" "6449" "0" "c.6449G>A" "r.(?)" "p.(Cys2150Tyr)" "47"
"0000122669" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000122670" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000122671" "00001847" "50" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000122672" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.(?)" "38i"
"0000122673" "00001847" "50" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000122674" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.(?)" "38i"
"0000122675" "00001847" "50" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000122676" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.(?)" "38i"
"0000122677" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000122678" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.?" "40i"
"0000122679" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000122680" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.?" "40i"
"0000122681" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000122682" "00001847" "90" "1231" "0" "1233" "0" "c.1231_1233dup" "r.(?)" "p.(Leu411dup)" "9"
"0000122683" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000122684" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000122685" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000122686" "00001847" "90" "950" "0" "950" "0" "c.950del" "r.(?)" "p.(Gly317Alafs*57)" "8"
"0000122687" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000122688" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000122689" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000122690" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000122691" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000122692" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000122693" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000122694" "00001847" "90" "564" "0" "564" "0" "c.564del" "r.(?)" "p.(Glu189Serfs*12)" "5"
"0000122695" "00001847" "50" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000122696" "00001847" "50" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000122697" "00001847" "50" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000122698" "00001847" "50" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000122699" "00001847" "50" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000122700" "00001847" "50" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000122701" "00001847" "50" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000122702" "00001847" "50" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000122703" "00001847" "50" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000122704" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.(?)" "6"
"0000122705" "00001847" "50" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(?)" "p.(?)" "38i"
"0000122706" "00001847" "50" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.(?)" "6"
"0000122707" "00001847" "50" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(?)" "p.(?)" "38i"
"0000122708" "00001847" "50" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(?)" "p.(?)" "38i"
"0000122709" "00001847" "50" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(?)" "p.(?)" "38i"
"0000122710" "00001847" "50" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(?)" "p.(?)" "38i"
"0000122711" "00001847" "50" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(?)" "p.(?)" "38i"
"0000122712" "00001847" "50" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(?)" "p.(?)" "38i"
"0000122713" "00001847" "50" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(?)" "p.(?)" "38i"
"0000122714" "00001847" "70" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.(?)" "38i"
"0000122715" "00001847" "50" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000122716" "00001847" "70" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.(?)" "38i"
"0000122717" "00001847" "50" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000122718" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.(?)" "38i"
"0000122719" "00001847" "50" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.?" "40i"
"0000122720" "00001847" "50" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(?)" "p.(?)" "38i"
"0000122721" "00001847" "50" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(?)" "p.(?)" "38i"
"0000122722" "00001847" "70" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.(?)" "38i"
"0000122723" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000122724" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.(?)" "38i"
"0000122725" "00001847" "50" "6601" "0" "6602" "0" "c.6601_6602del" "r.(?)" "p.(Arg2201Alafs*49)" "48"
"0000122726" "00001847" "70" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.(?)" "38i"
"0000122727" "00001847" "50" "3259" "0" "3259" "0" "c.3259G>A" "r.(?)" "p.(Glu1087Lys)" "22"
"0000122728" "00001847" "70" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.(?)" "38i"
"0000122729" "00001847" "50" "6229" "0" "6229" "0" "c.6229C>T" "r.(?)" "p.(Arg2077Trp)" "45"
"0000122730" "00001847" "70" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.(?)" "38i"
"0000122731" "00001847" "50" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000122732" "00001847" "30" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(?)" "p.(?)" "38i"
"0000122733" "00001847" "50" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000122734" "00001847" "30" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(?)" "p.(?)" "38i"
"0000122735" "00001847" "50" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000122736" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000122737" "00001847" "70" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973*)" "43"
"0000122738" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000122739" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000122740" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000122741" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000122742" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000122743" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000122744" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000122745" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000122746" "00001847" "70" "1086" "0" "1086" "0" "c.1086T>A" "r.(?)" "p.(Tyr362*)" "8"
"0000122747" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000122748" "00001847" "70" "4222" "0" "4222" "0" "c.4222T>C" "r.(?)" "p.(Trp1408Arg)" "28"
"0000122749" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000122750" "00001847" "70" "1919" "0" "1919" "0" "c.1919C>T" "r.(?)" "p.(Pro640Leu)" "13"
"0000122751" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000122752" "00001847" "70" "4532" "0" "4532" "0" "c.4532C>G" "r.(?)" "p.(Pro1511Arg)" "30"
"0000122753" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000122754" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000122755" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000122756" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000122757" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000122758" "00001847" "70" "6387" "-1" "6387" "-1" "c.6387-1G>T" "r.spl" "p.?" "46i"
"0000122759" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000122760" "00001847" "70" "3050" "5" "3050" "5" "c.3050+5G>A" "r.spl" "p.?" "20i"
"0000122761" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000122762" "00001847" "70" "161" "-1" "161" "-1" "c.161-1G>A" "r.spl" "p.?" "2i"
"0000122763" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000122764" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000122765" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000122766" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000122767" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000122768" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000122769" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000122770" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000122771" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000122772" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000122773" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000122774" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000122775" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000122776" "00001847" "70" "2300" "0" "2300" "0" "c.2300T>A" "r.(?)" "p.(Val767Asp)" "15"
"0000122777" "00001847" "50" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000122778" "00001847" "50" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000122779" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000122780" "00001847" "70" "2531" "0" "2531" "0" "c.2531T>G" "r.(?)" "p.(Leu844Arg)" "16"
"0000122781" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000122782" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000122783" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000122784" "00001847" "70" "3911" "0" "3911" "0" "c.3911T>A" "r.(?)" "p.(Leu1304*)" "27"
"0000122785" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000122786" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.?" "40i"
"0000122787" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000122788" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.?" "40i"
"0000122789" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000122790" "00001847" "70" "6229" "0" "6229" "0" "c.6229C>T" "r.(?)" "p.(Arg2077Trp)" "45"
"0000122791" "00001847" "50" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.?" "40i"
"0000122792" "00001847" "50" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.?" "40i"
"0000122793" "00001847" "50" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.?" "40i"
"0000122794" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.?" "40i"
"0000122795" "00001847" "90" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000122796" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.?" "40i"
"0000122797" "00001847" "90" "5828" "0" "5828" "0" "c.5828T>C" "r.(?)" "p.(Leu1943Pro)" "41"
"0000122798" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.?" "40i"
"0000122799" "00001847" "90" "6229" "0" "6229" "0" "c.6229C>T" "r.(?)" "p.(Arg2077Trp)" "45"
"0000122800" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.?" "40i"
"0000122801" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000122802" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000122803" "00001847" "50" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000122804" "00001847" "50" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000122805" "00001847" "70" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.(?)" "6"
"0000122806" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000122807" "00001847" "50" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000122808" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000122809" "00001847" "50" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000122810" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000122811" "00001847" "50" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000122812" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000122813" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000122814" "00001847" "70" "1952" "0" "1952" "0" "c.1952T>G" "r.(?)" "p.(Leu651Arg)" "14"
"0000122815" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000122816" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000122817" "00001847" "70" "4225" "0" "4225" "0" "c.4225A>G" "r.(?)" "p.(Ile1409Val)" "28"
"0000122818" "00001847" "50" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000122819" "00001847" "50" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000122820" "00001847" "50" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000122821" "00001847" "50" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000122822" "00001847" "50" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000122823" "00001847" "50" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000122824" "00001847" "50" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000122825" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000122826" "00001847" "30" "1822" "0" "1822" "0" "c.1822T>A" "r.(?)" "p.(Phe608Ile)" "13"
"0000122827" "00001847" "50" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000122828" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000122829" "00001847" "70" "1822" "0" "1822" "0" "c.1822T>A" "r.(?)" "p.(Phe608Ile)" "13"
"0000122830" "00001847" "90" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000122831" "00001847" "70" "1906" "0" "1906" "0" "c.1906C>T" "r.(?)" "p.(Gln636*)" "13"
"0000122832" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000122833" "00001847" "70" "4462" "0" "4462" "0" "c.4462T>C" "r.(?)" "p.(Cys1488Arg)" "30"
"0000122834" "00001847" "50" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000122835" "00001847" "30" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000122836" "00001847" "70" "3602" "0" "3602" "0" "c.3602T>G" "r.(?)" "p.(Leu1201Arg)" "24"
"0000122837" "00001847" "70" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000122838" "00001847" "50" "2560" "0" "2560" "0" "c.2560G>A" "r.(?)" "p.(Ala854Thr)" "16"
"0000122839" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000122840" "00001847" "50" "5693" "0" "5693" "0" "c.5693G>A" "r.(?)" "p.(Arg1898His)" "40"
"0000122841" "00001847" "50" "5693" "0" "5693" "0" "c.5693G>A" "r.(?)" "p.(Arg1898His)" "40"
"0000122842" "00001847" "50" "5693" "0" "5693" "0" "c.5693G>A" "r.(?)" "p.(Arg1898His)" "40"
"0000122843" "00001847" "50" "5693" "0" "5693" "0" "c.5693G>A" "r.(?)" "p.(Arg1898His)" "40"
"0000122844" "00001847" "50" "3602" "0" "3602" "0" "c.3602T>G" "r.(?)" "p.(Leu1201Arg)" "24"
"0000122845" "00001847" "30" "3602" "0" "3602" "0" "c.3602T>G" "r.(?)" "p.(Leu1201Arg)" "24"
"0000122846" "00001847" "30" "618" "0" "618" "0" "c.618C>G" "r.(?)" "p.(Ser206Arg)" "6"
"0000122847" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.(?)" "6"
"0000122848" "00001847" "50" "454" "0" "454" "0" "c.454C>T" "r.(?)" "p.(Arg152*)" "5"
"0000122849" "00001847" "70" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000122850" "00001847" "70" "6229" "0" "6229" "0" "c.6229C>T" "r.(?)" "p.(Arg2077Trp)" "45"
"0000122851" "00001847" "50" "1957" "0" "1957" "0" "c.1957C>T" "r.(?)" "p.(Arg653Cys)" "14"
"0000122852" "00001847" "50" "2041" "0" "2041" "0" "c.2041C>T" "r.(?)" "p.(Arg681*)" "14"
"0000122853" "00001847" "50" "2041" "0" "2041" "0" "c.2041C>T" "r.(?)" "p.(Arg681*)" "14"
"0000122854" "00001847" "50" "6449" "0" "6449" "0" "c.6449G>A" "r.(?)" "p.(Cys2150Tyr)" "47"
"0000122855" "00001847" "70" "6449" "0" "6449" "0" "c.6449G>A" "r.(?)" "p.(Cys2150Tyr)" "47"
"0000122856" "00001847" "70" "4463" "0" "4463" "0" "c.4463G>T" "r.(?)" "p.(Cys1488Phe)" "30"
"0000122857" "00001847" "50" "1822" "0" "1822" "0" "c.1822T>A" "r.(?)" "p.(Phe608Ile)" "13"
"0000122858" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000122859" "00001847" "50" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000122860" "00001847" "50" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000122861" "00001847" "50" "2042" "0" "2042" "0" "c.2042G>A" "r.(?)" "p.(Arg681Gln)" "14"
"0000122862" "00001847" "90" "1933" "0" "1933" "0" "c.1933G>A" "r.(?)" "p.(Asp645Asn)" "13"
"0000122863" "00001847" "70" "1988" "0" "1988" "0" "c.1988G>A" "r.(?)" "p.(Trp663*)" "14"
"0000122864" "00001847" "50" "4363" "0" "4363" "0" "c.4363T>C" "r.(?)" "p.(Cys1455Arg)" "30"
"0000122865" "00001847" "50" "4234" "0" "4234" "0" "c.4234C>T" "r.(?)" "p.(Gln1412*)" "28"
"0000122866" "00001847" "90" "5657" "0" "5657" "0" "c.5657G>A" "r.(?)" "p.(Gly1886Glu)" "40"
"0000122867" "00001847" "70" "5459" "0" "5459" "0" "c.5459G>C" "r.(?)" "p.(Arg1820Pro)" "38"
"0000122868" "00001847" "70" "1648" "0" "1648" "0" "c.1648G>A" "r.(?)" "p.(Gly550Arg)" "12"
"0000122869" "00001847" "90" "1819" "0" "1819" "0" "c.1819G>A" "r.(?)" "p.(Gly607Arg)" "13"
"0000122870" "00001847" "70" "2782" "0" "2782" "0" "c.2782G>T" "r.(?)" "p.(Gly928Trp)" "19"
"0000122871" "00001847" "70" "2869" "0" "2869" "0" "c.2869C>A" "r.(?)" "p.(Gln957Lys)" "19"
"0000122872" "00001847" "50" "2160" "1" "2160" "1" "c.2160+1G>T" "r.spl" "p.?" "14i"
"0000122873" "00001847" "50" "4539" "1" "4539" "1" "c.4539+1G>T" "r.spl" "p.?" "30i"
"0000122874" "00001847" "70" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071Cysfs*14)" "22"
"0000122875" "00001847" "90" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" "44"
"0000122876" "00001847" "90" "4290" "0" "4290" "0" "c.4290del" "r.(?)" "p.(Ala1431Glnfs*5)" "29"
"0000122877" "00001847" "50" "5646" "0" "5646" "0" "c.5646G>A" "r.(?)" "p.(Met1882Ile)" "40"
"0000122878" "00001847" "70" "1957" "0" "1957" "0" "c.1957C>T" "r.(?)" "p.(Arg653Cys)" "14"
"0000122879" "00001847" "70" "1967" "0" "1967" "0" "c.1967C>T" "r.(?)" "p.(Pro656Leu)" "14"
"0000122880" "00001847" "50" "3056" "0" "3056" "0" "c.3056C>T" "r.(?)" "p.(Thr1019Met)" "21"
"0000122881" "00001847" "50" "4870" "0" "4870" "0" "c.4870T>G" "r.(?)" "p.(Trp1624Gly)" "35"
"0000122882" "00001847" "50" "735" "0" "735" "0" "c.735T>G" "r.(?)" "p.(Tyr245*)" "6"
"0000122883" "00001847" "50" "1792" "0" "1792" "0" "c.1792G>A" "r.(?)" "p.(Val598Met)" "13"
"0000122884" "00001847" "70" "1957" "0" "1957" "0" "c.1957C>T" "r.(?)" "p.(Arg653Cys)" "14"
"0000122885" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000122886" "00001847" "50" "1928" "0" "1928" "0" "c.1928T>G" "r.(?)" "p.(Val643Gly)" "13"
"0000122887" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000122888" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000122889" "00001847" "70" "6005" "1" "6005" "1" "c.6005+1G>T" "r.spl" "p.?" "43i"
"0000122890" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000122891" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000122892" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000122893" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000122894" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000122895" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000122896" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000122897" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000122898" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000122899" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000122900" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000122901" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000122902" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000122903" "00001847" "70" "6229" "0" "6229" "0" "c.6229C>T" "r.(?)" "p.(Arg2077Trp)" "45"
"0000122904" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000122905" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000122906" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000122907" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000122908" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000122909" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000122910" "00001847" "70" "1805" "0" "1805" "0" "c.1805G>A" "r.(?)" "p.(Arg602Gln)" "13"
"0000122911" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000122912" "00001847" "50" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000122913" "00001847" "50" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000122914" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000122915" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000122916" "00001847" "50" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000122917" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000122918" "00001847" "70" "4919" "0" "4919" "0" "c.4919G>A" "r.(?)" "p.(Arg1640Gln)" "35"
"0000122919" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.(?)" "38i"
"0000122920" "00001847" "50" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.?" "40i"
"0000122921" "00001847" "70" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.0?" "1"
"0000122922" "00001847" "70" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" "44"
"0000122923" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000122924" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000122925" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000122926" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000122927" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000122928" "00001847" "50" "5318" "0" "5318" "0" "c.5318C>T" "r.(?)" "p.(Ala1773Val)" "38"
"0000122929" "00001847" "50" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000122930" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000122931" "00001847" "70" "3898" "0" "3898" "0" "c.3898C>T" "r.(?)" "p.(Arg1300*)" "27"
"0000122932" "00001847" "90" "161" "0" "161" "0" "c.161G>A" "r.(?)" "p.(Cys54Tyr, ?)" "3"
"0000122933" "00001847" "90" "2160" "1" "2160" "1" "c.2160+1G>C" "r.spl" "p.?" "14i"
"0000122934" "00001847" "90" "4537" "0" "4537" "0" "c.4537del" "r.(?)" "p.(Gln1513Argfs*13)" "30"
"0000122935" "00001847" "90" "319" "0" "319" "0" "c.319C>T" "r.(?)" "p.(Arg107*)" "4"
"0000122936" "00001847" "90" "4537" "0" "4537" "0" "c.4537del" "r.(?)" "p.(Gln1513Argfs*13)" "30"
"0000122937" "00001847" "90" "319" "0" "319" "0" "c.319C>T" "r.(?)" "p.(Arg107*)" "4"
"0000122938" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000122939" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.?" "40i"
"0000122940" "00001847" "70" "4793" "0" "4793" "0" "c.4793C>A" "r.(?)" "p.(Ala1598Asp)" "34"
"0000122941" "00001847" "50" "514" "0" "514" "0" "c.514G>A" "r.(?)" "p.(Gly172Ser)" "5"
"0000122942" "00001847" "50" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000122943" "00001847" "50" "2300" "0" "2300" "0" "c.2300T>A" "r.(?)" "p.(Val767Asp)" "15"
"0000122944" "00001847" "50" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000122945" "00001847" "90" "4457" "0" "4457" "0" "c.4457C>T" "r.(?)" "p.(Pro1486Leu)" "30"
"0000122946" "00001847" "70" "672" "0" "703" "0" "c.672_703delinsN[6]" "r.(?)" "p.(Val225(?)fs*46)" "6"
"0000122947" "00001847" "90" "4457" "0" "4457" "0" "c.4457C>T" "r.(?)" "p.(Pro1486Leu)" "30"
"0000122948" "00001847" "70" "672" "0" "703" "0" "c.672_703delinsN[6]" "r.(?)" "p.(Val225(?)fs*46)" "6"
"0000122949" "00001847" "50" "4234" "0" "4234" "0" "c.4234C>T" "r.(?)" "p.(Gln1412*)" "28"
"0000122950" "00001847" "50" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000122951" "00001847" "70" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.(?)" "38i"
"0000122952" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000122953" "00001847" "70" "667" "0" "667" "0" "c.667A>C" "r.(?)" "p.(Lys223Gln)" "6"
"0000122954" "00001847" "70" "2291" "0" "2305" "0" "c.2291_2305del" "r.(?)" "p.(Cys764_Ile768del)" "15"
"0000122955" "00001847" "70" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000122956" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.[Gly863Ala, Gly863del]" "17"
"0000122957" "00001847" "70" "1007" "0" "1007" "0" "c.1007C>G" "r.(?)" "p.(Ser336Cys)" "8"
"0000122958" "00001847" "70" "3204" "0" "3204" "0" "c.3204A>Y" "r.(?)" "p.(Arg1068Ser)" "22"
"0000122959" "00001847" "30" "3323" "0" "3323" "0" "c.3323G>A" "r.(?)" "p.(Arg1108His)" "22"
"0000122960" "00001847" "70" "4297" "0" "4297" "0" "c.4297G>A" "r.(?)" "p.(Val1433Ile)" "29"
"0000122961" "00001847" "70" "3050" "5" "3050" "5" "c.3050+5G>A" "r.spl" "p.?" "20i"
"0000122962" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000122963" "00001847" "50" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" "44"
"0000122964" "00001847" "70" "52" "0" "52" "0" "c.52C>T" "r.(?)" "p.(Arg18Trp)" "1"
"0000122965" "00001847" "70" "6306" "0" "6306" "0" "c.6306C>A" "r.(?)" "p.(Asp2102Glu)" "46"
"0000122966" "00001847" "90" "71" "0" "71" "0" "c.71G>A" "r.(?)" "p.(Arg24His)" "2"
"0000122967" "00001847" "70" "6479" "1" "6479" "1" "c.6479+1G>C" "r.spl" "p.?" "47i"
"0000122968" "00001847" "70" "247" "0" "250" "0" "c.247_250dup" "r.(?)" "p.(Ser84Thrfs*16)" "3"
"0000122969" "00001847" "90" "323" "0" "323" "0" "c.323A>T" "r.(?)" "p.(Asp108Val)" "4"
"0000122970" "00001847" "70" "247" "0" "250" "0" "c.247_250dup" "r.(?)" "p.(Ser84Thrfs*16)" "3"
"0000122971" "00001847" "90" "1868" "0" "1868" "0" "c.1868A>G" "r.(?)" "p.(Gln623Arg)" "13"
"0000122972" "00001847" "70" "161" "-1" "161" "-1" "c.161-1G>A" "r.spl" "p.?" "2i"
"0000122973" "00001847" "90" "3205" "0" "3205" "0" "c.3205A>G" "r.(?)" "p.(Lys1069Glu)" "22"
"0000122974" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000122975" "00001847" "70" "4635" "-1" "4635" "-1" "c.4635-1G>T" "r.spl" "p.?" "31i"
"0000122976" "00001847" "70" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000122977" "00001847" "70" "4326" "0" "4326" "0" "c.4326C>A" "r.(?)" "p.(Asn1442Lys)" "29"
"0000122978" "00001847" "70" "1037" "0" "1037" "0" "c.1037A>C" "r.(?)" "p.(Lys346Thr)" "8"
"0000122979" "00001847" "70" "3350" "0" "3350" "0" "c.3350C>T" "r.(?)" "p.(Thr1117Ile)" "23"
"0000122980" "00001847" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408*)" "9"
"0000122981" "00001847" "90" "5935" "0" "5935" "0" "c.5935del" "r.(?)" "p.(Thr1979Glnfs*13)" "43"
"0000122982" "00001847" "70" "1609" "0" "1609" "0" "c.1609C>T" "r.(?)" "p.(Arg537Cys)" "12"
"0000122983" "00001847" "70" "2243" "0" "2243" "0" "c.2243G>A" "r.(?)" "p.(Cys748Tyr)" "15"
"0000122984" "00001847" "90" "1805" "0" "1805" "0" "c.1805G>A" "r.(?)" "p.(Arg602Gln)" "13"
"0000122985" "00001847" "70" "6319" "0" "6325" "0" "c.6319_6325del" "r.(?)" "p.(Arg2107Cysfs*6)" "46"
"0000122986" "00001847" "70" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000122987" "00001847" "70" "5646" "0" "5646" "0" "c.5646G>A" "r.(?)" "p.(Met1882Ile)" "40"
"0000122988" "00001847" "90" "2300" "0" "2300" "0" "c.2300T>A" "r.(?)" "p.(Val767Asp)" "15"
"0000122989" "00001847" "70" "735" "0" "735" "0" "c.735T>G" "r.(?)" "p.(Tyr245*)" "6"
"0000122990" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000122991" "00001847" "90" "5177" "0" "5177" "0" "c.5177C>A" "r.(?)" "p.(Thr1726Asn)" "36"
"0000122992" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000122993" "00001847" "90" "318" "0" "318" "0" "c.318T>G" "r.(?)" "p.(Tyr106*)" "4"
"0000122994" "00001847" "70" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000122995" "00001847" "70" "3655" "0" "3655" "0" "c.3655G>C" "r.(?)" "p.(Ala1219Pro)" "25"
"0000122996" "00001847" "70" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000122997" "00001847" "70" "5138" "0" "5138" "0" "c.5138A>G" "r.(?)" "p.(Gln1713Arg)" "36"
"0000122998" "00001847" "70" "2791" "0" "2791" "0" "c.2791G>A" "r.(?)" "p.(Val931Met)" "19"
"0000122999" "00001847" "70" "184" "0" "184" "0" "c.184C>T" "r.(?)" "p.(Pro62Ser)" "3"
"0000123000" "00001847" "70" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000123001" "00001847" "70" "1253" "0" "1253" "0" "c.1253T>C" "r.(?)" "p.(Phe418Ser)" "10"
"0000123002" "00001847" "50" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000123003" "00001847" "70" "3522" "5" "3522" "5" "c.3522+5del" "r.spl?" "p.(?)" "23i"
"0000123004" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>A" "r.(?)" "p.(Arg1129His)" "23"
"0000123005" "00001847" "70" "4352" "1" "4352" "1" "c.4352+1G>A" "r.spl" "p.?" "29i"
"0000123006" "00001847" "70" "3819" "0" "3819" "0" "c.3819dup" "r.(?)" "p.(Leu1274Serfs*8)" "26"
"0000123007" "00001847" "90" "3279" "0" "3279" "0" "c.3279C>A" "r.(?)" "p.(Asp1093Glu)" "22"
"0000123008" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000123009" "00001847" "70" "2401" "0" "2401" "0" "c.2401G>A" "r.(?)" "p.(Ala801Thr)" "16"
"0000123010" "00001847" "90" "4328" "0" "4328" "0" "c.4328G>A" "r.(?)" "p.(Arg1443His)" "29"
"0000123011" "00001847" "70" "4667" "1" "4667" "1" "c.4667+1G>A" "r.spl" "p.?" "32i"
"0000123012" "00001847" "90" "4462" "0" "4462" "0" "c.4462T>C" "r.(?)" "p.(Cys1488Arg)" "30"
"0000123013" "00001847" "70" "885" "0" "885" "0" "c.885del" "r.(?)" "p.(Leu296Cysfs*4)" "8"
"0000123014" "00001847" "90" "5413" "0" "5413" "0" "c.5413A>G" "r.(?)" "p.(Asn1805Asp)" "38"
"0000123015" "00001847" "70" "355" "0" "356" "0" "c.355_356del" "r.(?)" "p.(Ser119Profs*41)" "4"
"0000123016" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000123017" "00001847" "70" "4734" "0" "4734" "0" "c.4734del" "r.(?)" "p.(Leu1580*)" "33"
"0000123018" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000123019" "00001847" "70" "564" "0" "564" "0" "c.564del" "r.(?)" "p.(Glu189Serfs*12)" "5"
"0000123020" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000123021" "00001847" "70" "885" "0" "885" "0" "c.885del" "r.(?)" "p.(Leu296Cysfs*4)" "8"
"0000123022" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000123023" "00001847" "70" "1964" "0" "1964" "0" "c.1964T>G" "r.(?)" "p.(Phe655Cys)" "14"
"0000123024" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000123025" "00001847" "70" "4217" "0" "4217" "0" "c.4217A>G" "r.(?)" "p.(His1406Arg)" "28"
"0000123026" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000123027" "00001847" "70" "2382" "1" "2382" "1" "c.2382+1G>A" "r.spl" "p.?" "15i"
"0000123028" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000123029" "00001847" "70" "160" "2" "160" "2" "c.160+2T>C" "r.spl?" "p.(?)" "2i"
"0000123030" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000123031" "00001847" "70" "5836" "-2" "5836" "-2" "c.5836-2A>C" "r.spl" "p.?" "41i"
"0000123032" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000123033" "00001847" "70" "6387" "-1" "6387" "-1" "c.6387-1G>T" "r.spl" "p.?" "46i"
"0000123034" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000123035" "00001847" "70" "6479" "1" "6479" "1" "c.6479+1G>A" "r.spl" "p.?" "47i"
"0000123036" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000123037" "00001847" "70" "1240" "-2" "1240" "-2" "c.1240-2A>G" "r.(?)" "p.(?)" "9i"
"0000123038" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000123039" "00001847" "70" "6445" "0" "6445" "0" "c.6445C>T" "r.(?)" "p.(Arg2149*)" "47"
"0000123040" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000123041" "00001847" "70" "6445" "0" "6445" "0" "c.6445C>T" "r.(?)" "p.(Arg2149*)" "47"
"0000123042" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000123043" "00001847" "70" "91" "0" "91" "0" "c.91T>C" "r.(?)" "p.(Trp31Arg)" "2"
"0000123044" "00001847" "90" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" "44"
"0000123045" "00001847" "70" "4639" "0" "4639" "0" "c.4639A>T" "r.(?)" "p.(Lys1547*)" "32"
"0000123046" "00001847" "70" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" "44"
"0000123047" "00001847" "70" "1977" "0" "1977" "0" "c.1977G>A" "r.(?)" "p.(Met659Ile)" "14"
"0000123048" "00001847" "70" "6088" "0" "6088" "0" "c.6088C>T" "r.(?)" "p.(Arg2030*)" "44"
"0000123049" "00001847" "90" "1375" "0" "1375" "0" "c.1375del" "r.(?)" "p.(Thr459Glnfs*2)" "11"
"0000123050" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000123051" "00001847" "30" "3523" "-1" "3523" "-1" "c.3523-1G>A" "r.spl" "p.?" "23i"
"0000123052" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000123053" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000123054" "00001847" "70" "3543" "0" "3543" "0" "c.3543del" "r.(?)" "p.(Lys1182Argfs*14)" "24"
"0000123055" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000123056" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000123057" "00001847" "70" "3543" "0" "3543" "0" "c.3543del" "r.(?)" "p.(Lys1182Argfs*14)" "24"
"0000123058" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000123059" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000123060" "00001847" "70" "4177" "0" "4177" "0" "c.4177G>A" "r.(?)" "p.(Val1393Ile)" "28"
"0000123061" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.(?)" "38i"
"0000123062" "00001847" "50" "122" "0" "122" "0" "c.122G>A" "r.(?)" "p.(Trp41*)" "2"
"0000123063" "00001847" "50" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.?" "40i"
"0000123064" "00001847" "90" "3522" "5" "3522" "5" "c.3522+5del" "r.spl?" "p.(?)" "23i"
"0000123065" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.?" "40i"
"0000123066" "00001847" "90" "770" "0" "770" "0" "c.770T>G" "r.(?)" "p.(Leu257Arg)" "7"
"0000123067" "00001847" "50" "52" "0" "52" "0" "c.52C>T" "r.(?)" "p.(Arg18Trp)" "1"
"0000123068" "00001847" "50" "247" "0" "250" "0" "c.247_250dup" "r.(?)" "p.(Ser84Thrfs*16)" "3"
"0000123069" "00001847" "90" "161" "0" "161" "0" "c.161G>A" "r.(?)" "p.(Cys54Tyr, ?)" "3"
"0000123070" "00001847" "90" "161" "0" "161" "0" "c.161G>A" "r.(?)" "p.(Cys54Tyr, ?)" "3"
"0000123071" "00001847" "90" "161" "0" "161" "0" "c.161G>A" "r.(?)" "p.(Cys54Tyr, ?)" "3"
"0000123072" "00001847" "50" "466" "0" "466" "0" "c.466A>G" "r.(?)" "p.(Ile156Val)" "5"
"0000123073" "00001847" "50" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000123074" "00001847" "50" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.(?)" "6"
"0000123075" "00001847" "50" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000123076" "00001847" "50" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000123077" "00001847" "50" "2690" "0" "2690" "0" "c.2690C>T" "r.(?)" "p.(Thr897Ile)" "18"
"0000123078" "00001847" "50" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000123079" "00001847" "50" "2819" "0" "2819" "0" "c.2819C>G" "r.(?)" "p.(Pro940Arg)" "19"
"0000123080" "00001847" "50" "2971" "0" "2971" "0" "c.2971G>C" "r.(?)" "p.(Gly991Arg)" "20"
"0000123081" "00001847" "50" "2966" "0" "2966" "0" "c.2966T>C" "r.(?)" "p.(Val989Ala)" "20"
"0000123082" "00001847" "50" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000123083" "00001847" "50" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000123084" "00001847" "50" "3602" "0" "3602" "0" "c.3602T>G" "r.(?)" "p.(Leu1201Arg)" "24"
"0000123085" "00001847" "50" "3602" "0" "3602" "0" "c.3602T>G" "r.(?)" "p.(Leu1201Arg)" "24"
"0000123086" "00001847" "50" "3898" "0" "3898" "0" "c.3898C>T" "r.(?)" "p.(Arg1300*)" "27"
"0000123087" "00001847" "50" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000123088" "00001847" "50" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000123089" "00001847" "50" "4363" "0" "4363" "0" "c.4363T>C" "r.(?)" "p.(Cys1455Arg)" "30"
"0000123090" "00001847" "50" "4537" "0" "4537" "0" "c.4537dup" "r.(?)" "p.(Gln1513Profs*42)" "30"
"0000123091" "00001847" "50" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" "31"
"0000123092" "00001847" "50" "4919" "0" "4919" "0" "c.4919G>A" "r.(?)" "p.(Arg1640Gln)" "35"
"0000123093" "00001847" "50" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" "35"
"0000123094" "00001847" "50" "5693" "0" "5693" "0" "c.5693G>A" "r.(?)" "p.(Arg1898His)" "40"
"0000123095" "00001847" "50" "5693" "0" "5693" "0" "c.5693G>A" "r.(?)" "p.(Arg1898His)" "40"
"0000123096" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000123097" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000123098" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000123099" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000123100" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000123101" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000123102" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000123103" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000123104" "00001847" "90" "247" "0" "250" "0" "c.247_250dup" "r.(?)" "p.(Ser84Thrfs*16)" "3"
"0000123105" "00001847" "50" "5881" "0" "5881" "0" "c.5881G>A" "r.(?)" "p.(Gly1961Arg)" "42"
"0000123106" "00001847" "50" "5914" "0" "5914" "0" "c.5914G>A" "r.(?)" "p.(Gly1972Arg)" "43"
"0000123107" "00001847" "50" "6088" "0" "6088" "0" "c.6088C>T" "r.(?)" "p.(Arg2030*)" "44"
"0000123108" "00001847" "50" "6148" "0" "6148" "0" "c.6148G>C" "r.(?)" "p.(?)" "45"
"0000123109" "00001847" "50" "6545" "0" "6580" "0" "c.6545_6580del" "r.(?)" "p.(Leu2182_Phe2193del)" "48"
"0000123110" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000123111" "00001847" "50" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000123112" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000123113" "00001847" "50" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000123114" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000123115" "00001847" "50" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000123116" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000123117" "00001847" "50" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000123118" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000123119" "00001847" "50" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000123120" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000123121" "00001847" "50" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000123122" "00001847" "50" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(?)" "p.(?)" "38i"
"0000123123" "00001847" "50" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(?)" "p.(?)" "38i"
"0000123124" "00001847" "50" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(?)" "p.(?)" "38i"
"0000123125" "00001847" "50" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(?)" "p.(?)" "38i"
"0000123126" "00001847" "50" "6386" "2" "6386" "2" "c.6386+2C>G" "r.spl" "p.?" "46i"
"0000123127" "00001847" "70" "1531" "0" "1531" "0" "c.1531C>T" "r.(?)" "p.(Arg511Cys)" "11"
"0000123128" "00001847" "70" "4457" "0" "4457" "0" "c.4457C>T" "r.(?)" "p.(Pro1486Leu)" "30"
"0000123129" "00001847" "70" "2893" "0" "2893" "0" "c.2893A>T" "r.(?)" "p.(Asn965Tyr)" "19"
"0000123130" "00001847" "50" "6316" "0" "6316" "0" "c.6316C>T" "r.(?)" "p.(Arg2106Cys)" "46"
"0000123131" "00001847" "70" "1100" "-6" "1100" "-6" "c.1100-6T>A" "r.spl?" "p.(?)" "8i"
"0000123132" "00001847" "90" "6718" "0" "6718" "0" "c.6718A>G" "r.(?)" "p.(Thr2240Ala)" "48"
"0000123133" "00001847" "70" "2919" "-2" "2919" "-2" "c.2919-2A>G" "r.spl" "p.?" "19i"
"0000123134" "00001847" "50" "885" "0" "885" "0" "c.885del" "r.(?)" "p.(Leu296Cysfs*4)" "8"
"0000123135" "00001847" "50" "3148" "0" "3148" "0" "c.3148G>A" "r.(?)" "p.(Gly1050Ser)" "21"
"0000123136" "00001847" "50" "3812" "0" "3812" "0" "c.3812A>G" "r.(?)" "p.(Glu1271Gly)" "25"
"0000123137" "00001847" "50" "3846" "0" "3846" "0" "c.3846del" "r.(?)" "p.(Gly1283Aspfs*106)" "26"
"0000123138" "00001847" "50" "4248" "0" "4248" "0" "c.4248C>A" "r.(?)" "p.(Phe1416Leu)" "28"
"0000123139" "00001847" "50" "4467" "0" "4467" "0" "c.4467G>T" "r.(?)" "p.(Arg1489Ser)" "30"
"0000123140" "00001847" "50" "4670" "0" "4670" "0" "c.4670A>G" "r.(?)" "p.(Tyr1557Cys)" "33"
"0000123141" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000123142" "00001847" "50" "3814" "-2" "3814" "-2" "c.3814-2A>G" "r.spl" "p.?" "25i"
"0000123143" "00001847" "50" "5312" "1" "5312" "1" "c.5312+1G>A" "r.spl" "p.?" "37i"
"0000123144" "00001847" "50" "899" "0" "899" "0" "c.899C>A" "r.(?)" "p.(Thr300Asn)" "8"
"0000123145" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000123146" "00001847" "50" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000123147" "00001847" "50" "286" "0" "286" "0" "c.286A>G" "r.(?)" "p.(Asn96Asp)" "3"
"0000123148" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000123149" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000123150" "00001847" "50" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000123151" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000123152" "00001847" "50" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000123153" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000123154" "00001847" "50" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000123155" "00001847" "70" "0" "0" "0" "0" "c.?" "r.(?)" "p.(?)" "?"
"0000123156" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000123157" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000123158" "00001847" "70" "6478" "0" "6478" "0" "c.6478A>G" "r.(?)" "p.(Lys2160Glu)" "47"
"0000123159" "00001847" "70" "3380" "0" "3380" "0" "c.3380G>A" "r.(?)" "p.(Gly1127Glu)" "23"
"0000123160" "00001847" "70" "3736" "0" "3736" "0" "c.3736C>G" "r.(?)" "p.(Leu1246Val)" "25"
"0000123161" "00001847" "70" "6449" "0" "6449" "0" "c.6449G>A" "r.(?)" "p.(Cys2150Tyr)" "47"
"0000123162" "00001847" "70" "4102" "0" "4102" "0" "c.4102C>T" "r.(?)" "p.(Arg1368Cys)" "27"
"0000123163" "00001847" "70" "4462" "0" "4462" "0" "c.4462T>C" "r.(?)" "p.(Cys1488Arg)" "30"
"0000123164" "00001847" "90" "4668" "-2" "4668" "-2" "c.4668-2A>G" "r.spl" "p.?" "32i"
"0000123165" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000123166" "00001847" "90" "4773" "5" "4773" "5" "c.4773+5G>A" "r.spl?" "p.(?)" "33i"
"0000123167" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000123168" "00001847" "90" "184" "0" "184" "0" "c.184C>T" "r.(?)" "p.(Pro62Ser)" "3"
"0000123169" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000123170" "00001847" "90" "1964" "0" "1964" "0" "c.1964T>G" "r.(?)" "p.(Phe655Cys)" "14"
"0000123171" "00001847" "70" "3765" "0" "3766" "0" "c.3765_3766dup" "r.(?)" "p.(Asp1256Valfs*20)" "25"
"0000123172" "00001847" "90" "1529" "0" "1529" "0" "c.1529T>G" "r.(?)" "p.(Leu510Arg)" "11"
"0000123173" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000123174" "00001847" "70" "1529" "0" "1529" "0" "c.1529T>G" "r.(?)" "p.(Leu510Arg)" "11"
"0000123175" "00001847" "30" "1529" "0" "1529" "0" "c.1529T>G" "r.(?)" "p.(Leu510Arg)" "11"
"0000123176" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000123177" "00001847" "70" "1529" "0" "1529" "0" "c.1529T>G" "r.(?)" "p.(Leu510Arg)" "11"
"0000123178" "00001847" "70" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" "44"
"0000123179" "00001847" "70" "2895" "0" "2895" "0" "c.2895T>G" "r.(?)" "p.(Asn965Lys)" "19"
"0000123180" "00001847" "70" "4102" "0" "4102" "0" "c.4102C>T" "r.(?)" "p.(Arg1368Cys)" "27"
"0000123181" "00001847" "70" "1648" "0" "1648" "0" "c.1648G>A" "r.(?)" "p.(Gly550Arg)" "12"
"0000123182" "00001847" "70" "5584" "1" "5584" "1" "c.5584+1G>A" "r.spl" "p.?" "39i"
"0000123183" "00001847" "50" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000123184" "00001847" "50" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000123185" "00001847" "70" "1529" "0" "1529" "0" "c.1529T>G" "r.(?)" "p.(Leu510Arg)" "11"
"0000123186" "00001847" "70" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000123187" "00001847" "90" "2408" "0" "2408" "0" "c.2408del" "r.(?)" "p.(Gly803Aspfs*40)" "16"
"0000123188" "00001847" "90" "3191" "-2" "3191" "-2" "c.3191-2A>G" "r.spl" "p.?" "21i"
"0000123189" "00001847" "90" "4243" "0" "4243" "0" "c.4243A>C" "r.(?)" "p.(Thr1415Pro)" "28"
"0000123190" "00001847" "70" "2408" "0" "2408" "0" "c.2408del" "r.(?)" "p.(Gly803Aspfs*40)" "16"
"0000123191" "00001847" "70" "6386" "1" "6386" "1" "c.6386+1G>A" "r.spl" "p.?" "46i"
"0000123192" "00001847" "90" "1529" "0" "1529" "0" "c.1529T>G" "r.(?)" "p.(Leu510Arg)" "11"
"0000123193" "00001847" "90" "6098" "0" "6098" "0" "c.6098T>G" "r.(?)" "p.(Leu2033Arg)" "44"
"0000123194" "00001847" "70" "4667" "2" "4667" "2" "c.4667+2T>G" "r.spl" "p.?" "32i"
"0000123195" "00001847" "70" "2408" "0" "2408" "0" "c.2408del" "r.(?)" "p.(Gly803Aspfs*40)" "16"
"0000123196" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000123197" "00001847" "70" "4739" "0" "4739" "0" "c.4739T>C" "r.(?)" "p.(Leu1580Ser)" "33"
"0000123198" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000123199" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000123200" "00001847" "70" "2408" "0" "2408" "0" "c.2408del" "r.(?)" "p.(Gly803Aspfs*40)" "16"
"0000123201" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000123202" "00001847" "70" "2243" "0" "2243" "0" "c.2243G>A" "r.(?)" "p.(Cys748Tyr)" "15"
"0000123203" "00001847" "70" "1822" "0" "1822" "0" "c.1822T>C" "r.(?)" "p.(Phe608Leu)" "13"
"0000123204" "00001847" "90" "2300" "0" "2300" "0" "c.2300T>A" "r.(?)" "p.(Val767Asp)" "15"
"0000123205" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000123206" "00001847" "50" "4102" "0" "4102" "0" "c.4102C>T" "r.(?)" "p.(Arg1368Cys)" "27"
"0000123207" "00001847" "70" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.(?)" "38i"
"0000123208" "00001847" "70" "2915" "0" "2915" "0" "c.2915C>A" "r.(?)" "p.(Thr972Asn)" "19"
"0000123209" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000123210" "00001847" "30" "5528" "0" "5533" "0" "c.5528_5533del" "r.(?)" "p.(Arg1843_Gly1844del)" "39"
"0000123211" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000123212" "00001847" "70" "3380" "0" "3380" "0" "c.3380G>A" "r.(?)" "p.(Gly1127Glu)" "23"
"0000123213" "00001847" "70" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" "44"
"0000123214" "00001847" "70" "6386" "1" "6386" "1" "c.6386+1G>A" "r.spl" "p.?" "46i"
"0000123215" "00001847" "90" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" "44"
"0000123216" "00001847" "70" "4069" "0" "4069" "0" "c.4069G>A" "r.(?)" "p.(Ala1357Thr)" "27"
"0000123217" "00001847" "70" "6386" "1" "6386" "1" "c.6386+1G>A" "r.spl" "p.?" "46i"
"0000123218" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000123219" "00001847" "50" "5693" "0" "5693" "0" "c.5693G>A" "r.(?)" "p.(Arg1898His)" "40"
"0000123220" "00001847" "30" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(?)" "p.(?)" "38i"
"0000123221" "00001847" "70" "6478" "0" "6478" "0" "c.6478A>G" "r.(?)" "p.(Lys2160Glu)" "47"
"0000123222" "00001847" "70" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000123223" "00001847" "90" "2408" "0" "2408" "0" "c.2408del" "r.(?)" "p.(Gly803Aspfs*40)" "16"
"0000123224" "00001847" "90" "4069" "0" "4069" "0" "c.4069G>A" "r.(?)" "p.(Ala1357Thr)" "27"
"0000123225" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000123226" "00001847" "90" "4653" "0" "4653" "0" "c.4653G>A" "r.(?)" "p.(Trp1551*)" "32"
"0000123227" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000123228" "00001847" "70" "6005" "1" "6005" "1" "c.6005+1G>A" "r.spl" "p.?" "43i"
"0000123229" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000123230" "00001847" "30" "4773" "3" "4773" "3" "c.4773+3A>G" "r.spl?" "p.(?)" "33i"
"0000123231" "00001847" "90" "2701" "0" "2701" "0" "c.2701A>G" "r.(?)" "p.(Thr901Ala)" "18"
"0000123232" "00001847" "30" "1988" "0" "1988" "0" "c.1988G>A" "r.(?)" "p.(Trp663*)" "14"
"0000123233" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000123234" "00001847" "30" "1988" "0" "1988" "0" "c.1988G>A" "r.(?)" "p.(Trp663*)" "14"
"0000123235" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000123236" "00001847" "70" "1988" "0" "1988" "0" "c.1988G>A" "r.(?)" "p.(Trp663*)" "14"
"0000123237" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000123238" "00001847" "70" "1988" "0" "1988" "0" "c.1988G>A" "r.(?)" "p.(Trp663*)" "14"
"0000123239" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000123240" "00001847" "90" "161" "0" "161" "0" "c.161G>A" "r.(?)" "p.(Cys54Tyr, ?)" "3"
"0000123241" "00001847" "90" "161" "0" "161" "0" "c.161G>A" "r.(?)" "p.(Cys54Tyr, ?)" "3"
"0000123242" "00001847" "50" "454" "0" "454" "0" "c.454C>T" "r.(?)" "p.(Arg152*)" "5"
"0000123243" "00001847" "50" "454" "0" "454" "0" "c.454C>T" "r.(?)" "p.(Arg152*)" "5"
"0000123244" "00001847" "50" "454" "0" "454" "0" "c.454C>T" "r.(?)" "p.(Arg152*)" "5"
"0000123245" "00001847" "50" "454" "0" "454" "0" "c.454C>T" "r.(?)" "p.(Arg152*)" "5"
"0000123246" "00001847" "50" "454" "0" "454" "0" "c.454C>T" "r.(?)" "p.(Arg152*)" "5"
"0000123247" "00001847" "50" "454" "0" "454" "0" "c.454C>T" "r.(?)" "p.(Arg152*)" "5"
"0000123248" "00001847" "50" "455" "0" "455" "0" "c.455G>A" "r.(?)" "p.(Arg152Gln)" "5"
"0000123249" "00001847" "50" "455" "0" "455" "0" "c.455G>A" "r.(?)" "p.(Arg152Gln)" "5"
"0000123250" "00001847" "50" "514" "0" "514" "0" "c.514G>A" "r.(?)" "p.(Gly172Ser)" "5"
"0000123251" "00001847" "50" "667" "0" "667" "0" "c.667A>C" "r.(?)" "p.(Lys223Gln)" "6"
"0000123252" "00001847" "50" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.(?)" "6"
"0000123253" "00001847" "50" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.(?)" "6"
"0000123254" "00001847" "50" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.(?)" "6"
"0000123255" "00001847" "50" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.(?)" "6"
"0000123256" "00001847" "50" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.(?)" "6"
"0000123257" "00001847" "50" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.(?)" "6"
"0000123258" "00001847" "50" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.(?)" "6"
"0000123259" "00001847" "50" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.(?)" "6"
"0000123260" "00001847" "50" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.(?)" "6"
"0000123261" "00001847" "50" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.(?)" "6"
"0000123262" "00001847" "50" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.(?)" "6"
"0000123263" "00001847" "50" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.(?)" "6"
"0000123264" "00001847" "50" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.(?)" "6"
"0000123265" "00001847" "50" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.(?)" "6"
"0000123266" "00001847" "50" "872" "0" "872" "0" "c.872C>T" "r.(?)" "p.(Pro291Leu)" "8"
"0000123267" "00001847" "90" "1317" "0" "1317" "0" "c.1317G>A" "r.(?)" "p.(Trp439*)" "10"
"0000123268" "00001847" "50" "1613" "0" "1613" "0" "c.1613C>A" "r.(?)" "p.(Ala538Asp)" "12"
"0000123269" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000123270" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000123271" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000123272" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000123273" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000123274" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000123275" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000123276" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000123277" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000123278" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000123279" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000123280" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000123281" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000123282" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000123283" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000123284" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000123285" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000123286" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000123287" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000123288" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000123289" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000123290" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000123291" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000123292" "00001847" "50" "1927" "0" "1927" "0" "c.1927G>A" "r.(?)" "p.(Val643Met)" "13"
"0000123293" "00001847" "50" "1957" "0" "1957" "0" "c.1957C>T" "r.(?)" "p.(Arg653Cys)" "14"
"0000123294" "00001847" "50" "2041" "0" "2041" "0" "c.2041C>T" "r.(?)" "p.(Arg681*)" "14"
"0000123295" "00001847" "50" "2041" "0" "2041" "0" "c.2041C>T" "r.(?)" "p.(Arg681*)" "14"
"0000123296" "00001847" "50" "2041" "0" "2041" "0" "c.2041C>T" "r.(?)" "p.(Arg681*)" "14"
"0000123297" "00001847" "50" "2300" "0" "2300" "0" "c.2300T>A" "r.(?)" "p.(Val767Asp)" "15"
"0000123298" "00001847" "50" "2565" "0" "2572" "0" "c.2565_2572del" "r.(?)" "p.(Trp855*)" "16"
"0000123299" "00001847" "50" "2565" "0" "2572" "0" "c.2565_2572del" "r.(?)" "p.(Trp855*)" "16"
"0000123300" "00001847" "50" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000123301" "00001847" "50" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000123302" "00001847" "50" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000123303" "00001847" "50" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000123304" "00001847" "50" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000123305" "00001847" "50" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000123306" "00001847" "50" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000123307" "00001847" "50" "2791" "0" "2791" "0" "c.2791G>A" "r.(?)" "p.(Val931Met)" "19"
"0000123308" "00001847" "50" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000123309" "00001847" "50" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000123310" "00001847" "50" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000123311" "00001847" "50" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000123312" "00001847" "50" "2971" "0" "2971" "0" "c.2971G>C" "r.(?)" "p.(Gly991Arg)" "20"
"0000123313" "00001847" "50" "3056" "0" "3056" "0" "c.3056C>T" "r.(?)" "p.(Thr1019Met)" "21"
"0000123314" "00001847" "50" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000123315" "00001847" "50" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000123316" "00001847" "50" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000123317" "00001847" "50" "3259" "0" "3259" "0" "c.3259G>A" "r.(?)" "p.(Glu1087Lys)" "22"
"0000123318" "00001847" "50" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000123319" "00001847" "50" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000123320" "00001847" "50" "3602" "0" "3602" "0" "c.3602T>G" "r.(?)" "p.(Leu1201Arg)" "24"
"0000123321" "00001847" "50" "3899" "0" "3899" "0" "c.3899G>A" "r.(?)" "p.(Arg1300Gln)" "27"
"0000123322" "00001847" "50" "3602" "0" "3602" "0" "c.3602T>G" "r.(?)" "p.(Leu1201Arg)" "24"
"0000123323" "00001847" "50" "3899" "0" "3899" "0" "c.3899G>A" "r.(?)" "p.(Arg1300Gln)" "27"
"0000123324" "00001847" "50" "3602" "0" "3602" "0" "c.3602T>G" "r.(?)" "p.(Leu1201Arg)" "24"
"0000123325" "00001847" "50" "3899" "0" "3899" "0" "c.3899G>A" "r.(?)" "p.(Arg1300Gln)" "27"
"0000123326" "00001847" "50" "3602" "0" "3602" "0" "c.3602T>G" "r.(?)" "p.(Leu1201Arg)" "24"
"0000123327" "00001847" "50" "3899" "0" "3899" "0" "c.3899G>A" "r.(?)" "p.(Arg1300Gln)" "27"
"0000123328" "00001847" "50" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000123329" "00001847" "50" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000123330" "00001847" "50" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000123331" "00001847" "50" "4222" "0" "4222" "0" "c.4222T>C" "r.(?)" "p.(Trp1408Arg)" "28"
"0000123332" "00001847" "50" "4253" "5" "4253" "5" "c.4253+5G>A" "r.spl" "p.?" "28i"
"0000123333" "00001847" "50" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000123334" "00001847" "50" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000123335" "00001847" "50" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000123336" "00001847" "50" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000123337" "00001847" "50" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000123338" "00001847" "50" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000123339" "00001847" "50" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000123340" "00001847" "50" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000123341" "00001847" "50" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000123342" "00001847" "50" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000123343" "00001847" "50" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000123344" "00001847" "50" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000123345" "00001847" "50" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000123346" "00001847" "50" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000123347" "00001847" "50" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000123348" "00001847" "50" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000123349" "00001847" "50" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000123350" "00001847" "50" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000123351" "00001847" "50" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000123352" "00001847" "50" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000123353" "00001847" "50" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000123354" "00001847" "50" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000123355" "00001847" "50" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000123356" "00001847" "50" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000123357" "00001847" "50" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000123358" "00001847" "50" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000123359" "00001847" "50" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000123360" "00001847" "50" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000123361" "00001847" "50" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000123362" "00001847" "50" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000123363" "00001847" "50" "4537" "0" "4537" "0" "c.4537dup" "r.(?)" "p.(Gln1513Profs*42)" "30"
"0000123364" "00001847" "50" "4793" "0" "4793" "0" "c.4793C>A" "r.(?)" "p.(Ala1598Asp)" "34"
"0000123365" "00001847" "50" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" "35"
"0000123366" "00001847" "50" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" "35"
"0000123367" "00001847" "50" "4926" "0" "4926" "0" "c.4926C>G" "r.(?)" "p.(Ser1642Arg)" "35"
"0000123368" "00001847" "50" "5044" "0" "5058" "0" "c.5044_5058del" "r.(?)" "p.(Val1682_Val1686del)" "36"
"0000123369" "00001847" "50" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(?)" "p.(?)" "38i"
"0000123370" "00001847" "50" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(?)" "p.(?)" "38i"
"0000123371" "00001847" "50" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(?)" "p.(?)" "38i"
"0000123372" "00001847" "50" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(?)" "p.(?)" "38i"
"0000123373" "00001847" "50" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(?)" "p.(?)" "38i"
"0000123374" "00001847" "50" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(?)" "p.(?)" "38i"
"0000123375" "00001847" "50" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(?)" "p.(?)" "38i"
"0000123376" "00001847" "50" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(?)" "p.(?)" "38i"
"0000123377" "00001847" "50" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(?)" "p.(?)" "38i"
"0000123378" "00001847" "50" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(?)" "p.(?)" "38i"
"0000123379" "00001847" "50" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(?)" "p.(?)" "38i"
"0000123380" "00001847" "50" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(?)" "p.(?)" "38i"
"0000123381" "00001847" "50" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(?)" "p.(?)" "38i"
"0000123382" "00001847" "50" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(?)" "p.(?)" "38i"
"0000123383" "00001847" "50" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(?)" "p.(?)" "38i"
"0000123384" "00001847" "50" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(?)" "p.(?)" "38i"
"0000123385" "00001847" "50" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(?)" "p.(?)" "38i"
"0000123386" "00001847" "50" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(?)" "p.(?)" "38i"
"0000123387" "00001847" "50" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(?)" "p.(?)" "38i"
"0000123388" "00001847" "50" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(?)" "p.(?)" "38i"
"0000123389" "00001847" "50" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(?)" "p.(?)" "38i"
"0000123390" "00001847" "50" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(?)" "p.(?)" "38i"
"0000123391" "00001847" "50" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(?)" "p.(?)" "38i"
"0000123392" "00001847" "50" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(?)" "p.(?)" "38i"
"0000123393" "00001847" "50" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.?" "40i"
"0000123394" "00001847" "50" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.?" "40i"
"0000123395" "00001847" "50" "5843" "0" "5843" "0" "c.5843C>T" "r.(?)" "p.(Pro1948Leu)" "42"
"0000123396" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000123397" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000123398" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000123399" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000123400" "00001847" "50" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000123401" "00001847" "50" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000123402" "00001847" "50" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000123403" "00001847" "50" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000123404" "00001847" "50" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000123405" "00001847" "50" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000123406" "00001847" "50" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000123407" "00001847" "50" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000123408" "00001847" "50" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000123409" "00001847" "50" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000123410" "00001847" "50" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000123411" "00001847" "50" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000123412" "00001847" "50" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000123413" "00001847" "50" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000123414" "00001847" "50" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000123415" "00001847" "50" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000123416" "00001847" "50" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000123417" "00001847" "50" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000123418" "00001847" "50" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000123419" "00001847" "50" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000123420" "00001847" "50" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000123421" "00001847" "50" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000123422" "00001847" "50" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" "44"
"0000123423" "00001847" "50" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" "44"
"0000123424" "00001847" "50" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" "44"
"0000123425" "00001847" "50" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000123426" "00001847" "50" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000123427" "00001847" "50" "6449" "0" "6449" "0" "c.6449G>A" "r.(?)" "p.(Cys2150Tyr)" "47"
"0000123428" "00001847" "50" "6658" "0" "6658" "0" "c.6658C>T" "r.(?)" "p.(Gln2220*)" "48"
"0000123429" "00001847" "50" "286" "0" "286" "0" "c.286A>G" "r.(?)" "p.(Asn96Asp)" "3"
"0000123430" "00001847" "50" "286" "0" "286" "0" "c.286A>G" "r.(?)" "p.(Asn96Asp)" "3"
"0000123431" "00001847" "50" "286" "0" "286" "0" "c.286A>G" "r.(?)" "p.(Asn96Asp)" "3"
"0000123432" "00001847" "50" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.?" "40i"
"0000123433" "00001847" "50" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071Cysfs*14)" "22"
"0000123434" "00001847" "70" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.0?" "1"
"0000123435" "00001847" "50" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" "44"
"0000123436" "00001847" "50" "868" "0" "868" "0" "c.868C>T" "r.(?)" "p.(Arg290Trp)" "8"
"0000123437" "00001847" "50" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000123438" "00001847" "50" "6148" "0" "6148" "0" "c.6148G>C" "r.(?)" "p.(Val2050Leu)" "45"
"0000123439" "00001847" "70" "2" "0" "2" "0" "c.2T>C" "r.(?)" "p.0?" "1"
"0000123440" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000123441" "00001847" "50" "32" "0" "32" "0" "c.32T>C" "r.(?)" "p.(Leu11Pro)" "1"
"0000123442" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000123443" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000123444" "00001847" "50" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.(?)" "6"
"0000123445" "00001847" "30" "3874" "0" "3874" "0" "c.3874C>T" "r.(?)" "p.(Gln1292*)" "27"
"0000123446" "00001847" "90" "1928" "0" "1928" "0" "c.1928T>G" "r.(?)" "p.(Val643Gly)" "13"
"0000123447" "00001847" "90" "6238" "0" "6239" "0" "c.6238_6239del" "r.(?)" "p.(Ser2080Hisfs*16)" "45"
"0000123448" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.[(Gly863Ala, Gly863del)]" "17"
"0000123449" "00001847" "50" "656" "0" "656" "0" "c.656G>C" "r.(?)" "p.(Arg219Thr)" "6"
"0000123450" "00001847" "70" "1805" "0" "1805" "0" "c.1805G>A" "r.(?)" "p.(Arg602Gln)" "13"
"0000123451" "00001847" "70" "4462" "0" "4462" "0" "c.4462T>C" "r.(?)" "p.(Cys1488Arg)" "30"
"0000123452" "00001847" "50" "3874" "0" "3874" "0" "c.3874C>T" "r.(?)" "p.(Gln1292*)" "27"
"0000123453" "00001847" "50" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.(?)" "6"
"0000123454" "00001847" "50" "4462" "0" "4462" "0" "c.4462T>C" "r.(?)" "p.(Cys1488Arg)" "30"
"0000123455" "00001847" "30" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.(?)" "6"
"0000123456" "00001847" "50" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000123457" "00001847" "50" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.(?)" "6"
"0000123458" "00001847" "50" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.(?)" "6"
"0000123459" "00001847" "30" "3874" "0" "3874" "0" "c.3874C>T" "r.(?)" "p.(Gln1292*)" "27"
"0000123460" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000123461" "00001847" "70" "4363" "0" "4363" "0" "c.4363T>C" "r.(?)" "p.(Cys1455Arg)" "30"
"0000123462" "00001847" "70" "4519" "0" "4519" "0" "c.4519G>T" "r.(?)" "p.(Gly1507Trp)" "30"
"0000123463" "00001847" "50" "4363" "0" "4363" "0" "c.4363T>C" "r.(?)" "p.(Cys1455Arg)" "30"
"0000123464" "00001847" "50" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.(?)" "6"
"0000123465" "00001847" "50" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.(?)" "6"
"0000123466" "00001847" "70" "164" "0" "164" "0" "c.164A>G" "r.(?)" "p.(His55Arg)" "3"
"0000123467" "00001847" "70" "6119" "0" "6119" "0" "c.6119G>A" "r.(?)" "p.(Arg2040Gln)" "44"
"0000123468" "00001847" "50" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.(?)" "6"
"0000123469" "00001847" "50" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.(?)" "6"
"0000123470" "00001847" "50" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(?)" "p.(?)" "38i"
"0000123471" "00001847" "70" "5693" "0" "5693" "0" "c.5693G>A" "r.(?)" "p.(Arg1898His)" "40"
"0000123472" "00001847" "30" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000123473" "00001847" "70" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000123474" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000123475" "00001847" "50" "5196" "1" "5196" "1" "c.5196+1G>T" "r.spl" "p.?" "36i"
"0000123476" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000123477" "00001847" "70" "247" "0" "250" "0" "c.247_250dup" "r.(?)" "p.(Ser84Thrfs*16)" "3"
"0000123478" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000123479" "00001847" "70" "247" "0" "250" "0" "c.247_250dup" "r.(?)" "p.(Ser84Thrfs*16)" "3"
"0000123480" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000123481" "00001847" "70" "6445" "0" "6445" "0" "c.6445C>T" "r.(?)" "p.(Arg2149*)" "47"
"0000123482" "00001847" "90" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973*)" "43"
"0000123483" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000123484" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000123485" "00001847" "70" "4793" "0" "4793" "0" "c.4793C>A" "r.(?)" "p.(Ala1598Asp)" "34"
"0000123486" "00001847" "50" "0" "0" "0" "0" "c.?" "r.(?)" "p.(?)" "?"
"0000123487" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000123488" "00001847" "70" "3292" "0" "3292" "0" "c.3292C>T" "r.(?)" "p.(Arg1098Cys)" "22"
"0000123489" "00001847" "70" "5018" "2" "5018" "2" "c.5018+2T>C" "r.spl?" "p.(?)" "35i"
"0000123490" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000123491" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000123492" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000123493" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000123494" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000123495" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000123496" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000123497" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000123498" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000123499" "00001847" "90" "4328" "0" "4328" "0" "c.4328G>A" "r.(?)" "p.(Arg1443His)" "29"
"0000123500" "00001847" "70" "5018" "2" "5018" "2" "c.5018+2T>C" "r.spl?" "p.(?)" "35i"
"0000123501" "00001847" "70" "1957" "0" "1957" "0" "c.1957C>T" "r.(?)" "p.(Arg653Cys)" "14"
"0000123502" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000123503" "00001847" "90" "4685" "0" "4685" "0" "c.4685T>C" "r.(?)" "p.(Ile1562Thr)" "33"
"0000123504" "00001847" "30" "6445" "0" "6445" "0" "c.6445C>T" "r.(?)" "p.(Arg2149*)" "47"
"0000123505" "00001847" "90" "4685" "0" "4685" "0" "c.4685T>C" "r.(?)" "p.(Ile1562Thr)" "33"
"0000123506" "00001847" "30" "6282" "1" "6282" "1" "c.6282+1G>C" "r.spl" "p.?" "45i"
"0000123507" "00001847" "70" "52" "0" "52" "0" "c.52C>T" "r.(?)" "p.(Arg18Trp)" "1"
"0000123508" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000123509" "00001847" "90" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973*)" "43"
"0000123510" "00001847" "90" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973*)" "43"
"0000123511" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000123512" "00001847" "70" "1964" "0" "1964" "0" "c.1964T>G" "r.(?)" "p.(Phe655Cys)" "14"
"0000123513" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000123514" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000123515" "00001847" "70" "247" "0" "250" "0" "c.247_250dup" "r.(?)" "p.(Ser84Thrfs*16)" "3"
"0000123516" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000123517" "00001847" "50" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.?" "40i"
"0000123518" "00001847" "90" "2161" "-8" "2161" "-8" "c.2161-8G>A" "r.(?)" "p.(?)" "14i"
"0000123519" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000123520" "00001847" "70" "4735" "0" "4739" "0" "c.4735_4739delinsCC" "r.(?)" "p.(Phe1579_Leu1580delinsPro)" "33"
"0000123521" "00001847" "70" "1852" "0" "1852" "0" "c.1852G>A" "r.(?)" "p.(Gln618Arg)" "13"
"0000123522" "00001847" "70" "5914" "0" "5914" "0" "c.5914G>A" "r.(?)" "p.(Gly1972Arg)" "43"
"0000123523" "00001847" "70" "4537" "0" "4537" "0" "c.4537dup" "r.(?)" "p.(Gln1513Profs*42)" "30"
"0000123524" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000123525" "00001847" "70" "5018" "2" "5018" "2" "c.5018+2T>C" "r.spl?" "p.(?)" "35i"
"0000123526" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000123527" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000123528" "00001847" "70" "5642" "0" "5642" "0" "c.5642C>T" "r.(?)" "p.(Ala1881Val)" "40"
"0000123529" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000123530" "00001847" "70" "6088" "0" "6088" "0" "c.6088C>T" "r.(?)" "p.(Arg2030*)" "44"
"0000123531" "00001847" "70" "5018" "2" "5018" "2" "c.5018+2T>C" "r.spl?" "p.(?)" "35i"
"0000123532" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000123533" "00001847" "70" "5018" "2" "5018" "2" "c.5018+2T>C" "r.spl?" "p.(?)" "35i"
"0000123534" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000123535" "00001847" "70" "247" "0" "250" "0" "c.247_250dup" "r.(?)" "p.(Ser84Thrfs*16)" "3"
"0000123536" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000123537" "00001847" "70" "4919" "0" "4919" "0" "c.4919G>A" "r.(?)" "p.(Arg1640Gln)" "35"
"0000123538" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000123539" "00001847" "90" "6448" "0" "6448" "0" "c.6448T>C" "r.(?)" "p.(Cys2150Arg)" "47"
"0000123540" "00001847" "70" "2626" "0" "2627" "0" "c.2626_2627insTTT" "r.(?)" "p.(Gln876_Asp2273delinsLeu*)" "17"
"0000123541" "00001847" "90" "6448" "0" "6448" "0" "c.6448T>C" "r.(?)" "p.(Cys2150Arg)" "47"
"0000123542" "00001847" "70" "2626" "0" "2627" "0" "c.2626_2627insTTT" "r.(?)" "p.(Gln876_Asp2273delinsLeu*)" "17"
"0000123543" "00001847" "90" "286" "0" "286" "0" "c.286A>G" "r.(?)" "p.(Asn96Asp)" "3"
"0000123544" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.?" "40i"
"0000123545" "00001847" "90" "769" "-2" "769" "-2" "c.769-2A>T" "r.spl" "p.?" "6i"
"0000123546" "00001847" "70" "1532" "0" "1532" "0" "c.1532G>A" "r.(?)" "p.(Arg511His)" "11"
"0000123547" "00001847" "70" "1586" "0" "1586" "0" "c.1586A>G" "r.(?)" "p.(Asn529Ser)" "12"
"0000123548" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.?" "40i"
"0000123549" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000123550" "00001847" "70" "286" "0" "286" "0" "c.286A>G" "r.(?)" "p.(Asn96Asp)" "3"
"0000123551" "00001847" "70" "6419" "0" "6419" "0" "c.6419T>A" "r.(?)" "p.(Leu2140Gln)" "47"
"0000123552" "00001847" "70" "2069" "0" "2069" "0" "c.2069G>A" "r.(?)" "p.(Gly690Asp)" "14"
"0000123553" "00001847" "70" "4793" "0" "4793" "0" "c.4793C>A" "r.(?)" "p.(Ala1598Asp)" "34"
"0000123554" "00001847" "70" "5018" "2" "5018" "2" "c.5018+2T>C" "r.spl?" "p.(?)" "35i"
"0000123555" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000123556" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000123557" "00001847" "70" "1852" "0" "1852" "0" "c.1852G>A" "r.(?)" "p.(Gln618Arg)" "13"
"0000123558" "00001847" "70" "286" "0" "286" "0" "c.286A>G" "r.(?)" "p.(Asn96Asp)" "3"
"0000123559" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000123560" "00001847" "90" "4537" "0" "4537" "0" "c.4537dup" "r.(?)" "p.(Gln1513Profs*42)" "30"
"0000123561" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.?" "40i"
"0000123562" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000123563" "00001847" "70" "6282" "1" "6282" "1" "c.6282+1G>C" "r.spl" "p.?" "45i"
"0000123564" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000123565" "00001847" "70" "6282" "1" "6282" "1" "c.6282+1G>C" "r.spl" "p.?" "45i"
"0000123566" "00001847" "90" "5018" "2" "5018" "2" "c.5018+2T>C" "r.spl?" "p.(?)" "35i"
"0000123567" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.?" "40i"
"0000123568" "00001847" "70" "286" "0" "286" "0" "c.286A>G" "r.(?)" "p.(Asn96Asp)" "3"
"0000123569" "00001847" "70" "6419" "0" "6419" "0" "c.6419T>A" "r.(?)" "p.(Leu2140Gln)" "47"
"0000123570" "00001847" "90" "6282" "1" "6282" "1" "c.6282+1G>C" "r.spl" "p.?" "45i"
"0000123571" "00001847" "90" "6445" "0" "6445" "0" "c.6445C>T" "r.(?)" "p.(Arg2149*)" "47"
"0000123572" "00001847" "90" "1204" "0" "1204" "0" "c.1204C>G" "r.(?)" "p.(Pro402Ala)" "9"
"0000123573" "00001847" "70" "247" "0" "250" "0" "c.247_250dup" "r.(?)" "p.(Ser84Thrfs*16)" "3"
"0000123574" "00001847" "90" "4793" "0" "4793" "0" "c.4793C>A" "r.(?)" "p.(Ala1598Asp)" "34"
"0000123575" "00001847" "70" "6088" "0" "6088" "0" "c.6088C>T" "r.(?)" "p.(Arg2030*)" "44"
"0000123576" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000123577" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000123578" "00001847" "70" "3758" "0" "3758" "0" "c.3758C>T" "r.(?)" "p.(Thr1253Met)" "25"
"0000123579" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000123580" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000123581" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000123582" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000123583" "00001847" "50" "5512" "0" "5512" "0" "c.5512C>G" "r.(?)" "p.(His1838Asp)" "39"
"0000123584" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000123585" "00001847" "50" "5512" "0" "5512" "0" "c.5512C>G" "r.(?)" "p.(His1838Asp)" "39"
"0000123586" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000123587" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000123588" "00001847" "70" "288" "0" "288" "0" "c.288C>A" "r.(?)" "p.(Asn96Lys)" "3"
"0000123589" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000123590" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000123591" "00001847" "70" "288" "0" "288" "0" "c.288C>A" "r.(?)" "p.(Asn96Lys)" "3"
"0000123592" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000123593" "00001847" "70" "288" "0" "288" "0" "c.288C>A" "r.(?)" "p.(Asn96Lys)" "3"
"0000123594" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000123595" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000123596" "00001847" "70" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000123597" "00001847" "70" "6112" "0" "6112" "0" "c.6112C>T" "r.(?)" "p.(Arg2038Trp)" "44"
"0000123598" "00001847" "70" "1906" "0" "1906" "0" "c.1906C>T" "r.(?)" "p.(Gln636*)" "13"
"0000123599" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000123600" "00001847" "50" "2966" "0" "2966" "0" "c.2966T>C" "r.(?)" "p.(Val989Ala)" "20"
"0000123601" "00001847" "90" "5578" "0" "5578" "0" "c.5578C>T" "r.(?)" "p.(Arg1860Trp)" "39"
"0000123602" "00001847" "70" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.0?" "1"
"0000123603" "00001847" "70" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" "44"
"0000123604" "00001847" "70" "466" "0" "466" "0" "c.466A>G" "r.(?)" "p.(Ile156Val)" "5"
"0000123605" "00001847" "70" "1819" "0" "1819" "0" "c.1819G>M" "r.(?)" "p.(Gly607Arg)" "13"
"0000123606" "00001847" "30" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000123607" "00001847" "70" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.0?" "1"
"0000123608" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000123609" "00001847" "90" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" "44"
"0000123610" "00001847" "90" "4594" "0" "4594" "0" "c.4594G>A" "r.(?)" "p.(Asp1532Asn)" "31"
"0000123611" "00001847" "70" "6088" "0" "6088" "0" "c.6088C>T" "r.(?)" "p.(Arg2030*)" "44"
"0000123612" "00001847" "90" "1086" "0" "1086" "0" "c.1086T>A" "r.(?)" "p.(Tyr362*)" "8"
"0000123613" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000123614" "00001847" "70" "3292" "0" "3292" "0" "c.3292C>T" "r.(?)" "p.(Arg1098Cys)" "22"
"0000123615" "00001847" "70" "4462" "0" "4462" "0" "c.4462T>C" "r.(?)" "p.(Cys1488Arg)" "30"
"0000123616" "00001847" "70" "52" "0" "52" "0" "c.52C>T" "r.(?)" "p.(Arg18Trp)" "1"
"0000123617" "00001847" "70" "2300" "0" "2300" "0" "c.2300T>A" "r.(?)" "p.(Val767Asp)" "15"
"0000123618" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.?" "40i"
"0000123619" "00001847" "90" "1937" "1" "1937" "1" "c.1937+1G>A" "r.spl" "p.?" "13i"
"0000123620" "00001847" "50" "4537" "0" "4537" "0" "c.4537dup" "r.(?)" "p.(Gln1513Profs*42)" "30"
"0000123621" "00001847" "50" "3583" "0" "3584" "0" "c.3583_3584insNN" "r.(?)" "p.(Leu1195Argfs*2)" "24"
"0000123622" "00001847" "50" "6449" "0" "6449" "0" "c.6449G>A" "r.(?)" "p.(Cys2150Tyr)" "47"
"0000123623" "00001847" "70" "2549" "0" "2549" "0" "c.2549A>G" "r.(?)" "p.(Tyr850Cys)" "16"
"0000123624" "00001847" "70" "2875" "0" "2875" "0" "c.2875A>G" "r.(?)" "p.(Thr959Ala)" "19"
"0000123625" "00001847" "70" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.0?" "1"
"0000123626" "00001847" "90" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" "44"
"0000123627" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000123628" "00001847" "90" "161" "0" "161" "0" "c.161G>A" "r.(?)" "p.(Cys54Tyr, ?)" "3"
"0000123629" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000123630" "00001847" "90" "161" "0" "161" "0" "c.161G>A" "r.(?)" "p.(Cys54Tyr, ?)" "3"
"0000123631" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000123632" "00001847" "70" "161" "0" "161" "0" "c.161G>A" "r.(?)" "p.(Cys54Tyr, ?)" "3"
"0000123633" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000123634" "00001847" "70" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000123635" "00001847" "70" "4457" "0" "4457" "0" "c.4457C>T" "r.(?)" "p.(Pro1486Leu)" "30"
"0000123636" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000123637" "00001847" "90" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000123638" "00001847" "90" "2971" "0" "2971" "0" "c.2971G>C" "r.(?)" "p.(Gly991Arg)" "20"
"0000123639" "00001847" "70" "4254" "-2" "4254" "-2" "c.4254-2A>G" "r.spl" "p.?" "28i"
"0000123640" "00001847" "30" "2971" "0" "2971" "0" "c.2971G>C" "r.(?)" "p.(Gly991Arg)" "20"
"0000123641" "00001847" "70" "3602" "0" "3602" "0" "c.3602T>G" "r.(?)" "p.(Leu1201Arg)" "24"
"0000123642" "00001847" "50" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000123643" "00001847" "70" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.(?)" "6"
"0000123644" "00001847" "70" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000123645" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000123646" "00001847" "70" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000123647" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000123648" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000123649" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.?" "40i"
"0000123650" "00001847" "70" "4457" "0" "4457" "0" "c.4457C>T" "r.(?)" "p.(Pro1486Leu)" "30"
"0000123651" "00001847" "70" "4537" "0" "4537" "0" "c.4537dup" "r.(?)" "p.(Gln1513Profs*42)" "30"
"0000123652" "00001847" "90" "6391" "0" "6391" "0" "c.6391G>A" "r.(?)" "p.(Glu2131Lys)" "47"
"0000123653" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000123654" "00001847" "70" "5018" "2" "5018" "2" "c.5018+2T>C" "r.spl?" "p.(?)" "35i"
"0000123655" "00001847" "90" "6316" "0" "6316" "0" "c.6316C>T" "r.(?)" "p.(Arg2106Cys)" "46"
"0000123656" "00001847" "70" "5018" "2" "5018" "2" "c.5018+2T>C" "r.spl?" "p.(?)" "35i"
"0000123657" "00001847" "90" "6316" "0" "6316" "0" "c.6316C>T" "r.(?)" "p.(Arg2106Cys)" "46"
"0000123658" "00001847" "70" "3004" "0" "3004" "0" "c.3004C>T" "r.(?)" "p.(Arg1002Trp)" "20"
"0000123659" "00001847" "70" "1957" "0" "1957" "0" "c.1957C>T" "r.(?)" "p.(Arg653Cys)" "14"
"0000123660" "00001847" "90" "1253" "0" "1253" "0" "c.1253T>C" "r.(?)" "p.(Phe418Ser)" "10"
"0000123661" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000123662" "00001847" "70" "6709" "0" "6709" "0" "c.6709A>C" "r.(?)" "p.(Thr2237Pro)" "48"
"0000123663" "00001847" "70" "3064" "0" "3064" "0" "c.3064G>A" "r.(?)" "p.(Glu1022Lys)" "21"
"0000123664" "00001847" "70" "6709" "0" "6709" "0" "c.6709A>C" "r.(?)" "p.(Thr2237Pro)" "48"
"0000123665" "00001847" "70" "3064" "0" "3064" "0" "c.3064G>A" "r.(?)" "p.(Glu1022Lys)" "21"
"0000123666" "00001847" "70" "5260" "0" "5260" "0" "c.5260T>G" "r.(?)" "p.(Tyr1754Asp)" "37"
"0000123667" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000123668" "00001847" "70" "551" "0" "551" "0" "c.551C>T" "r.(?)" "p.(Ser184Phe)" "5"
"0000123669" "00001847" "70" "4793" "0" "4793" "0" "c.4793C>A" "r.(?)" "p.(Ala1598Asp)" "34"
"0000123670" "00001847" "70" "551" "0" "551" "0" "c.551C>T" "r.(?)" "p.(Ser184Phe)" "5"
"0000123671" "00001847" "70" "4793" "0" "4793" "0" "c.4793C>A" "r.(?)" "p.(Ala1598Asp)" "34"
"0000123672" "00001847" "70" "550" "0" "551" "0" "c.550_551delinsCG" "r.(?)" "p.(Ser184Arg)" "5"
"0000123673" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000123674" "00001847" "70" "550" "0" "551" "0" "c.550_551delinsCG" "r.(?)" "p.(Ser184Arg)" "5"
"0000123675" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000123676" "00001847" "70" "5313" "-3" "5313" "-3" "c.5313-3C>G" "r.spl?" "p.(?)" "37i"
"0000123677" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000123678" "00001847" "50" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000123679" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.(?)" "38i"
"0000123680" "00001847" "50" "5537" "0" "5537" "0" "c.5537T>C" "r.(?)" "p.(Ile1846Thr)" "39"
"0000123681" "00001847" "70" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.(?)" "38i"
"0000123682" "00001847" "50" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" "44"
"0000123683" "00001847" "70" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.(?)" "38i"
"0000123684" "00001847" "90" "6730" "-1" "6730" "-1" "c.6730-1G>C" "r.spl" "p.?" "48i"
"0000123685" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000123686" "00001847" "70" "3291" "0" "3291" "0" "c.3291A>T" "r.(?)" "p.(Arg1097Ser)" "22"
"0000123687" "00001847" "70" "3056" "0" "3056" "0" "c.3056C>T" "r.(?)" "p.(Thr1019Met)" "21"
"0000123688" "00001847" "50" "4981" "0" "4981" "0" "c.4981del" "r.(?)" "p.(Leu1661*)" "35"
"0000123689" "00001847" "50" "2345" "0" "2345" "0" "c.2345G>A" "r.(?)" "p.(Trp782*)" "15"
"0000123690" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000123691" "00001847" "90" "4326" "0" "4326" "0" "c.4326C>A" "r.(?)" "p.(Asn1442Lys)" "29"
"0000123692" "00001847" "50" "2966" "0" "2966" "0" "c.2966T>C" "r.(?)" "p.(Val989Ala)" "20"
"0000123693" "00001847" "50" "3364" "0" "3364" "0" "c.3364G>A" "r.(?)" "p.(Glu1122Lys)" "23"
"0000123694" "00001847" "50" "3364" "0" "3364" "0" "c.3364G>A" "r.(?)" "p.(Glu1122Lys)" "23"
"0000123695" "00001847" "30" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000123696" "00001847" "70" "455" "0" "455" "0" "c.455G>A" "r.(?)" "p.(Arg152Gln)" "5"
"0000123697" "00001847" "70" "6449" "0" "6449" "0" "c.6449G>A" "r.(?)" "p.(Cys2150Tyr)" "47"
"0000123698" "00001847" "70" "4326" "0" "4326" "0" "c.4326C>A" "r.(?)" "p.(Asn1442Lys)" "29"
"0000123699" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000123700" "00001847" "70" "4462" "0" "4462" "0" "c.4462T>C" "r.(?)" "p.(Cys1488Arg)" "30"
"0000123701" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000123702" "00001847" "70" "4462" "0" "4462" "0" "c.4462T>C" "r.(?)" "p.(Cys1488Arg)" "30"
"0000123703" "00001847" "90" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" "31"
"0000123704" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.?" "40i"
"0000123705" "00001847" "90" "6118" "0" "6118" "0" "c.6118C>T" "r.(?)" "p.(Arg2040*)" "44"
"0000123706" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.?" "40i"
"0000123707" "00001847" "70" "4670" "0" "4670" "0" "c.4670A>G" "r.(?)" "p.(Tyr1557Cys)" "33"
"0000123708" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000123709" "00001847" "70" "4670" "0" "4670" "0" "c.4670A>G" "r.(?)" "p.(Tyr1557Cys)" "33"
"0000123710" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000123711" "00001847" "70" "5318" "0" "5318" "0" "c.5318C>A" "r.(?)" "p.(Ala1773Glu)" "38"
"0000123712" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000123713" "00001847" "50" "655" "0" "655" "0" "c.655A>T" "r.(?)" "p.(Arg219*)" "6"
"0000123714" "00001847" "50" "655" "0" "655" "0" "c.655A>T" "r.(?)" "p.(Arg219*)" "6"
"0000123715" "00001847" "50" "2828" "0" "2828" "0" "c.2828G>A" "r.(?)" "p.(Arg943Gln)" "19"
"0000123716" "00001847" "70" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.(?)" "6"
"0000123717" "00001847" "50" "6319" "0" "6319" "0" "c.6319C>T" "r.(?)" "p.(Arg2107Cys)" "46"
"0000123718" "00001847" "70" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.(?)" "6"
"0000123719" "00001847" "50" "6319" "0" "6319" "0" "c.6319C>T" "r.(?)" "p.(Arg2107Cys)" "46"
"0000123720" "00001847" "50" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000123721" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.(?)" "38i"
"0000123722" "00001847" "50" "5381" "0" "5381" "0" "c.5381C>A" "r.(?)" "p.(Ala1794Asp)" "38"
"0000123723" "00001847" "50" "4685" "0" "4685" "0" "c.4685T>C" "r.(?)" "p.(Ile1562Thr)" "33"
"0000123724" "00001847" "70" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.(?)" "38i"
"0000123725" "00001847" "50" "1726" "0" "1726" "0" "c.1726G>C" "r.(?)" "p.(Asp576His)" "12"
"0000123726" "00001847" "70" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000123727" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000123728" "00001847" "50" "571" "-2" "571" "-2" "c.571-2A>T" "r.spl" "p.?" "5i"
"0000123729" "00001847" "50" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000123730" "00001847" "70" "4773" "3" "4773" "3" "c.4773+3A>G" "r.spl?" "p.(?)" "33i"
"0000123731" "00001847" "50" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(?)" "p.(?)" "38i"
"0000123732" "00001847" "90" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000123733" "00001847" "50" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(?)" "p.(?)" "38i"
"0000123734" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000123735" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.(?)" "6"
"0000123736" "00001847" "50" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000123737" "00001847" "50" "4328" "0" "4328" "0" "c.4328G>A" "r.(?)" "p.(Arg1443His)" "29"
"0000123738" "00001847" "90" "1317" "0" "1317" "0" "c.1317G>A" "r.(?)" "p.(Trp439*)" "10"
"0000123739" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000123740" "00001847" "50" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000123741" "00001847" "50" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.[(Gly863Ala, Gly863del)]" "17"
"0000123742" "00001847" "50" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(?)" "p.(?)" "38i"
"0000123743" "00001847" "50" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000123744" "00001847" "70" "1253" "0" "1253" "0" "c.1253T>C" "r.(?)" "p.(Phe418Ser)" "10"
"0000123745" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000123746" "00001847" "70" "4253" "5" "4253" "5" "c.4253+5G>T" "r.spl" "p.?" "28i"
"0000123747" "00001847" "50" "4519" "0" "4519" "0" "c.4519G>A" "r.(?)" "p.(Gly1507Arg)" "30"
"0000123748" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000123749" "00001847" "70" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" "44"
"0000123750" "00001847" "50" "286" "0" "286" "0" "c.286A>C" "r.(?)" "p.(Asn96His)" "3"
"0000123751" "00001847" "50" "4537" "0" "4537" "0" "c.4537dup" "r.(?)" "p.(Gln1513Profs*42)" "30"
"0000123752" "00001847" "50" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000123753" "00001847" "90" "161" "0" "161" "0" "c.161G>A" "r.(?)" "p.(Cys54Tyr, ?)" "3"
"0000123754" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000123755" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000123756" "00001847" "50" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000123757" "00001847" "90" "1317" "0" "1317" "0" "c.1317G>A" "r.(?)" "p.(Trp439*)" "10"
"0000123758" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000123759" "00001847" "70" "5516" "0" "5516" "0" "c.5516T>C" "r.(?)" "p.(Phe1839Ser)" "39"
"0000123760" "00001847" "70" "4363" "0" "4363" "0" "c.4363T>C" "r.(?)" "p.(Cys1455Arg)" "30"
"0000123761" "00001847" "50" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000123762" "00001847" "50" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000123763" "00001847" "50" "4956" "0" "4956" "0" "c.4956T>G" "r.(?)" "p.(Tyr1652*)" "35"
"0000123764" "00001847" "50" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(?)" "p.(?)" "38i"
"0000123765" "00001847" "50" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071Cysfs*14)" "22"
"0000123766" "00001847" "70" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408*)" "9"
"0000123767" "00001847" "90" "2023" "0" "2023" "0" "c.2023G>A" "r.(?)" "p.(Val675Ile)" "14"
"0000123768" "00001847" "50" "6449" "0" "6449" "0" "c.6449G>A" "r.(?)" "p.(Cys2150Tyr)" "47"
"0000123769" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000123770" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000123771" "00001847" "70" "1957" "0" "1957" "0" "c.1957C>T" "r.(?)" "p.(Arg653Cys)" "14"
"0000123772" "00001847" "70" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" "44"
"0000123773" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000123774" "00001847" "90" "3259" "0" "3259" "0" "c.3259G>A" "r.(?)" "p.(Glu1087Lys)" "22"
"0000123775" "00001847" "90" "161" "0" "161" "0" "c.161G>A" "r.(?)" "p.(Cys54Tyr, ?)" "3"
"0000123776" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000123777" "00001847" "50" "2791" "0" "2791" "0" "c.2791G>A" "r.(?)" "p.(Val931Met)" "19"
"0000123778" "00001847" "70" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.(?)" "38i"
"0000123779" "00001847" "50" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000123780" "00001847" "70" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071Cysfs*14)" "22"
"0000123781" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000123782" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.(?)" "38i"
"0000123783" "00001847" "50" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.?" "40i"
"0000123784" "00001847" "90" "161" "0" "161" "0" "c.161G>A" "r.(?)" "p.(Cys54Tyr, ?)" "3"
"0000123785" "00001847" "50" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000123786" "00001847" "50" "3056" "0" "3056" "0" "c.3056C>T" "r.(?)" "p.(Thr1019Met)" "21"
"0000123787" "00001847" "50" "3056" "0" "3056" "0" "c.3056C>T" "r.(?)" "p.(Thr1019Met)" "21"
"0000123788" "00001847" "50" "6449" "0" "6449" "0" "c.6449G>A" "r.(?)" "p.(Cys2150Tyr)" "47"
"0000123789" "00001847" "70" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.(?)" "38i"
"0000123790" "00001847" "50" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000123791" "00001847" "70" "1722" "0" "1723" "0" "c.1722_1723del" "r.(?)" "p.(Ile575Argfs*8)" "12"
"0000123792" "00001847" "50" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(?)" "p.(?)" "38i"
"0000123793" "00001847" "70" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" "35"
"0000123794" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000123795" "00001847" "50" "3323" "0" "3323" "0" "c.3323G>A" "r.(?)" "p.(Arg1108His)" "22"
"0000123796" "00001847" "70" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.(?)" "38i"
"0000123797" "00001847" "50" "6449" "0" "6449" "0" "c.6449G>A" "r.(?)" "p.(Cys2150Tyr)" "47"
"0000123798" "00001847" "70" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.(?)" "38i"
"0000123799" "00001847" "50" "6449" "0" "6449" "0" "c.6449G>A" "r.(?)" "p.(Cys2150Tyr)" "47"
"0000123800" "00001847" "70" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.(?)" "38i"
"0000123801" "00001847" "50" "6449" "0" "6449" "0" "c.6449G>A" "r.(?)" "p.(Cys2150Tyr)" "47"
"0000123802" "00001847" "50" "2239" "0" "2239" "0" "c.2239del" "r.(?)" "p.(Leu747Cysfs*40)" "15"
"0000123803" "00001847" "50" "466" "0" "466" "0" "c.466A>G" "r.(?)" "p.(Ile156Val)" "5"
"0000123804" "00001847" "70" "5318" "0" "5318" "0" "c.5318C>T" "r.(?)" "p.(Ala1773Val)" "38"
"0000123805" "00001847" "70" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000123806" "00001847" "70" "5318" "0" "5318" "0" "c.5318C>T" "r.(?)" "p.(Ala1773Val)" "38"
"0000123807" "00001847" "70" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000123808" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000123809" "00001847" "70" "5318" "0" "5318" "0" "c.5318C>T" "r.(?)" "p.(Ala1773Val)" "38"
"0000123810" "00001847" "70" "2453" "0" "2453" "0" "c.2453G>A" "r.(?)" "p.(Gly818Glu)" "16"
"0000123811" "00001847" "70" "4249" "0" "4251" "0" "c.4249_4251del" "r.(?)" "p.(Phe1417del)" "28"
"0000123812" "00001847" "70" "5318" "0" "5318" "0" "c.5318C>T" "r.(?)" "p.(Ala1773Val)" "38"
"0000123813" "00001847" "90" "868" "0" "868" "0" "c.868C>T" "r.(?)" "p.(Arg290Trp)" "8"
"0000123814" "00001847" "70" "1099" "1" "1099" "1" "c.1099+1G>A" "r.spl" "p.?" "8i"
"0000123815" "00001847" "50" "5318" "0" "5318" "0" "c.5318C>T" "r.(?)" "p.(Ala1773Val)" "38"
"0000123816" "00001847" "70" "3041" "0" "3041" "0" "c.3041T>G" "r.(?)" "p.(Leu1014Arg)" "20"
"0000123817" "00001847" "70" "52" "0" "52" "0" "c.52C>T" "r.(?)" "p.(Arg18Trp)" "1"
"0000123818" "00001847" "70" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000123819" "00001847" "70" "2453" "0" "2453" "0" "c.2453G>A" "r.(?)" "p.(Gly818Glu)" "16"
"0000123820" "00001847" "70" "5324" "0" "5324" "0" "c.5324T>A" "r.(?)" "p.(Ile1775Asn)" "38"
"0000123821" "00001847" "90" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000123822" "00001847" "30" "265" "0" "265" "0" "c.265G>T" "r.(?)" "p.(Glu89*)" "3"
"0000123823" "00001847" "70" "5335" "0" "5335" "0" "c.5335T>C" "r.(?)" "p.(Tyr1779His)" "38"
"0000123824" "00001847" "70" "2453" "0" "2453" "0" "c.2453G>A" "r.(?)" "p.(Gly818Glu)" "16"
"0000123825" "00001847" "70" "723" "0" "723" "0" "c.723A>T" "r.(?)" "p.(Glu241Asp)" "6"
"0000123826" "00001847" "70" "5114" "0" "5114" "0" "c.5114G>A" "r.(?)" "p.(Arg1705Gln)" "36"
"0000123827" "00001847" "50" "71" "0" "71" "0" "c.71G>A" "r.(?)" "p.(Arg24His)" "2"
"0000123828" "00001847" "50" "4537" "0" "4537" "0" "c.4537dup" "r.(?)" "p.(Gln1513Profs*42)" "30"
"0000123829" "00001847" "90" "4667" "0" "4667" "0" "c.4667G>C" "r.(?)" "p.(Arg1556Thr, ?)" "32"
"0000123830" "00001847" "70" "6221" "0" "6221" "0" "c.6221G>T" "r.(?)" "p.(Gly2074Val)" "45"
"0000123831" "00001847" "70" "2453" "0" "2453" "0" "c.2453G>A" "r.(?)" "p.(Gly818Glu)" "16"
"0000123832" "00001847" "70" "2453" "0" "2453" "0" "c.2453G>A" "r.(?)" "p.(Gly818Glu)" "16"
"0000123833" "00001847" "70" "6383" "0" "6383" "0" "c.6383A>G" "r.(?)" "p.(His2128Arg)" "46"
"0000123834" "00001847" "50" "2453" "0" "2453" "0" "c.2453G>A" "r.(?)" "p.(Gly818Glu)" "16"
"0000123835" "00001847" "50" "4653" "0" "4653" "0" "c.4653G>A" "r.(?)" "p.(Trp1551*)" "32"
"0000123836" "00001847" "50" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000123837" "00001847" "70" "5044" "0" "5058" "0" "c.5044_5058del" "r.(?)" "p.(Val1682_Val1686del)" "36"
"0000123838" "00001847" "70" "4328" "0" "4328" "0" "c.4328G>A" "r.(?)" "p.(Arg1443His)" "29"
"0000123839" "00001847" "70" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000123840" "00001847" "50" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(?)" "p.(?)" "38i"
"0000123841" "00001847" "50" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.(?)" "6"
"0000123842" "00001847" "50" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(?)" "p.(?)" "38i"
"0000123843" "00001847" "50" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(?)" "p.(?)" "38i"
"0000123844" "00001847" "50" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000123845" "00001847" "70" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.(?)" "6"
"0000123846" "00001847" "50" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000123847" "00001847" "70" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.(?)" "6"
"0000123848" "00001847" "50" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000123849" "00001847" "70" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.(?)" "6"
"0000123850" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.(?)" "38i"
"0000123851" "00001847" "50" "454" "0" "454" "0" "c.454C>T" "r.(?)" "p.(Arg152*)" "5"
"0000123852" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.(?)" "38i"
"0000123853" "00001847" "50" "454" "0" "454" "0" "c.454C>T" "r.(?)" "p.(Arg152*)" "5"
"0000123854" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.(?)" "38i"
"0000123855" "00001847" "50" "454" "0" "454" "0" "c.454C>T" "r.(?)" "p.(Arg152*)" "5"
"0000123856" "00001847" "90" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000123857" "00001847" "70" "454" "0" "454" "0" "c.454C>T" "r.(?)" "p.(Arg152*)" "5"
"0000123858" "00001847" "90" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000123859" "00001847" "70" "454" "0" "454" "0" "c.454C>T" "r.(?)" "p.(Arg152*)" "5"
"0000123860" "00001847" "90" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000123861" "00001847" "70" "454" "0" "454" "0" "c.454C>T" "r.(?)" "p.(Arg152*)" "5"
"0000123862" "00001847" "90" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000123863" "00001847" "70" "454" "0" "454" "0" "c.454C>T" "r.(?)" "p.(Arg152*)" "5"
"0000123864" "00001847" "90" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000123865" "00001847" "70" "454" "0" "454" "0" "c.454C>T" "r.(?)" "p.(Arg152*)" "5"
"0000123866" "00001847" "90" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000123867" "00001847" "70" "454" "0" "454" "0" "c.454C>T" "r.(?)" "p.(Arg152*)" "5"
"0000123868" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.(?)" "6"
"0000123869" "00001847" "50" "454" "0" "454" "0" "c.454C>T" "r.(?)" "p.(Arg152*)" "5"
"0000123870" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.(?)" "6"
"0000123871" "00001847" "50" "454" "0" "454" "0" "c.454C>T" "r.(?)" "p.(Arg152*)" "5"
"0000123872" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.(?)" "6"
"0000123873" "00001847" "50" "454" "0" "454" "0" "c.454C>T" "r.(?)" "p.(Arg152*)" "5"
"0000123874" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.(?)" "6"
"0000123875" "00001847" "50" "454" "0" "454" "0" "c.454C>T" "r.(?)" "p.(Arg152*)" "5"
"0000123876" "00001847" "50" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.(?)" "6"
"0000123877" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000123878" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000123879" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000123880" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000123881" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000123882" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000123883" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000123884" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000123885" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000123886" "00001847" "90" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000123887" "00001847" "70" "454" "0" "454" "0" "c.454C>T" "r.(?)" "p.(Arg152*)" "5"
"0000123888" "00001847" "90" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000123889" "00001847" "70" "454" "0" "454" "0" "c.454C>T" "r.(?)" "p.(Arg152*)" "5"
"0000123890" "00001847" "90" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000123891" "00001847" "70" "454" "0" "454" "0" "c.454C>T" "r.(?)" "p.(Arg152*)" "5"
"0000123892" "00001847" "90" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000123893" "00001847" "70" "454" "0" "454" "0" "c.454C>T" "r.(?)" "p.(Arg152*)" "5"
"0000123894" "00001847" "90" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000123895" "00001847" "70" "454" "0" "454" "0" "c.454C>T" "r.(?)" "p.(Arg152*)" "5"
"0000123896" "00001847" "90" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000123897" "00001847" "70" "454" "0" "454" "0" "c.454C>T" "r.(?)" "p.(Arg152*)" "5"
"0000123898" "00001847" "90" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000123899" "00001847" "70" "454" "0" "454" "0" "c.454C>T" "r.(?)" "p.(Arg152*)" "5"
"0000123900" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000123901" "00001847" "70" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000123902" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000123903" "00001847" "70" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000123904" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000123905" "00001847" "70" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000123906" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000123907" "00001847" "70" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000123908" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000123909" "00001847" "70" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000123910" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000123911" "00001847" "70" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000123912" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000123913" "00001847" "70" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000123914" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000123915" "00001847" "70" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000123916" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000123917" "00001847" "70" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000123918" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000123919" "00001847" "70" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000123920" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000123921" "00001847" "70" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000123922" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000123923" "00001847" "70" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000123924" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000123925" "00001847" "70" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000123926" "00001847" "50" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000123927" "00001847" "70" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.(?)" "38i"
"0000123928" "00001847" "50" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000123929" "00001847" "70" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.(?)" "38i"
"0000123930" "00001847" "50" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000123931" "00001847" "70" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.(?)" "38i"
"0000123932" "00001847" "50" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000123933" "00001847" "70" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.(?)" "38i"
"0000123934" "00001847" "50" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000123935" "00001847" "70" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.(?)" "38i"
"0000123936" "00001847" "50" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000123937" "00001847" "70" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.(?)" "38i"
"0000123938" "00001847" "50" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000123939" "00001847" "70" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.(?)" "38i"
"0000123940" "00001847" "50" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000123941" "00001847" "70" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.(?)" "38i"
"0000123942" "00001847" "50" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000123943" "00001847" "70" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.(?)" "38i"
"0000123944" "00001847" "50" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000123945" "00001847" "70" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.(?)" "38i"
"0000123946" "00001847" "50" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000123947" "00001847" "70" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.(?)" "38i"
"0000123948" "00001847" "50" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000123949" "00001847" "70" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.(?)" "38i"
"0000123950" "00001847" "50" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000123951" "00001847" "70" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.(?)" "38i"
"0000123952" "00001847" "50" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000123953" "00001847" "70" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.(?)" "6"
"0000123954" "00001847" "50" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000123955" "00001847" "70" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.(?)" "6"
"0000123956" "00001847" "50" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000123957" "00001847" "70" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.(?)" "6"
"0000123958" "00001847" "50" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000123959" "00001847" "70" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.(?)" "6"
"0000123960" "00001847" "50" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000123961" "00001847" "70" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.(?)" "6"
"0000123962" "00001847" "50" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000123963" "00001847" "70" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.(?)" "6"
"0000123964" "00001847" "50" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000123965" "00001847" "70" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.(?)" "6"
"0000123966" "00001847" "50" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000123967" "00001847" "70" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.(?)" "6"
"0000123968" "00001847" "50" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000123969" "00001847" "70" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.(?)" "6"
"0000123970" "00001847" "50" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000123971" "00001847" "70" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.(?)" "6"
"0000123972" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000123973" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000123974" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000123975" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000123976" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000123977" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000123978" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000123979" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000123980" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000123981" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000123982" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000123983" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000123984" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000123985" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000123986" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000123987" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000123988" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000123989" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000123990" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000123991" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000123992" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000123993" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000123994" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000123995" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000123996" "00001847" "50" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000123997" "00001847" "70" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.(?)" "38i"
"0000123998" "00001847" "50" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000123999" "00001847" "70" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.(?)" "38i"
"0000124000" "00001847" "50" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000124001" "00001847" "70" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.(?)" "38i"
"0000124002" "00001847" "50" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000124003" "00001847" "70" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.(?)" "38i"
"0000124004" "00001847" "70" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000124005" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000124006" "00001847" "70" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000124007" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000124008" "00001847" "70" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000124009" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000124010" "00001847" "70" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000124011" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000124012" "00001847" "70" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000124013" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000124014" "00001847" "70" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000124015" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000124016" "00001847" "70" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000124017" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000124018" "00001847" "70" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000124019" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000124020" "00001847" "50" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000124021" "00001847" "70" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.(?)" "6"
"0000124022" "00001847" "50" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000124023" "00001847" "70" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.(?)" "6"
"0000124024" "00001847" "50" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000124025" "00001847" "70" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.(?)" "6"
"0000124026" "00001847" "50" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000124027" "00001847" "70" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.(?)" "6"
"0000124028" "00001847" "50" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000124029" "00001847" "70" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.(?)" "6"
"0000124030" "00001847" "50" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000124031" "00001847" "70" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.(?)" "6"
"0000124032" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.(?)" "6"
"0000124033" "00001847" "50" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000124034" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.(?)" "6"
"0000124035" "00001847" "50" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000124036" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.(?)" "6"
"0000124037" "00001847" "50" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000124038" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000124039" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000124040" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000124041" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000124042" "00001847" "90" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000124043" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000124044" "00001847" "90" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000124045" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000124046" "00001847" "90" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000124047" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000124048" "00001847" "90" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000124049" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000124050" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.(?)" "38i"
"0000124051" "00001847" "50" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000124052" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000124053" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000124054" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000124055" "00001847" "90" "454" "0" "454" "0" "c.454C>T" "r.(?)" "p.(Arg152*)" "5"
"0000124056" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000124057" "00001847" "90" "454" "0" "454" "0" "c.454C>T" "r.(?)" "p.(Arg152*)" "5"
"0000124058" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000124059" "00001847" "90" "454" "0" "454" "0" "c.454C>T" "r.(?)" "p.(Arg152*)" "5"
"0000124060" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000124061" "00001847" "90" "454" "0" "454" "0" "c.454C>T" "r.(?)" "p.(Arg152*)" "5"
"0000124062" "00001847" "50" "5413" "0" "5413" "0" "c.5413A>G" "r.(?)" "p.(Asn1805Asp)" "38"
"0000124063" "00001847" "50" "5929" "0" "5929" "0" "c.5929G>A" "r.(?)" "p.(Gly1977Ser)" "43"
"0000124064" "00001847" "50" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000124065" "00001847" "50" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000124066" "00001847" "50" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.?" "40i"
"0000124067" "00001847" "50" "6148" "0" "6148" "0" "c.6148G>C" "r.(?)" "p.(Val2050Leu)" "45"
"0000124068" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000124069" "00001847" "50" "4793" "0" "4793" "0" "c.4793C>A" "r.(?)" "p.(Ala1598Asp)" "34"
"0000124070" "00001847" "90" "2041" "0" "2041" "0" "c.2041C>T" "r.(?)" "p.(Arg681*)" "14"
"0000124071" "00001847" "90" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071Cysfs*14)" "22"
"0000124072" "00001847" "90" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973*)" "43"
"0000124073" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000124074" "00001847" "70" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973*)" "43"
"0000124075" "00001847" "70" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.(?)" "38i"
"0000124076" "00001847" "50" "5044" "0" "5058" "0" "c.5044_5058del" "r.(?)" "p.(Val1682_Val1686del)" "36"
"0000124077" "00001847" "90" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973*)" "43"
"0000124078" "00001847" "90" "3862" "1" "3862" "1" "c.3862+1G>A" "r.spl" "p.?" "26i"
"0000124079" "00001847" "90" "6329" "0" "6329" "0" "c.6329G>A" "r.(?)" "p.(Trp2110*)" "46"
"0000124080" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>C" "r.(?)" "p.(Arg2107Pro)" "46"
"0000124081" "00001847" "70" "6329" "0" "6329" "0" "c.6329G>A" "r.(?)" "p.(Trp2110*)" "46"
"0000124082" "00001847" "50" "6179" "0" "6179" "0" "c.6179T>G" "r.(?)" "p.(Leu2060Arg)" "45"
"0000124083" "00001847" "70" "5819" "0" "5819" "0" "c.5819T>C" "r.(?)" "p.(Leu1940Pro)" "41"
"0000124084" "00001847" "70" "3380" "0" "3380" "0" "c.3380G>A" "r.(?)" "p.(Gly1127Glu)" "23"
"0000124085" "00001847" "70" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000124086" "00001847" "70" "4919" "0" "4919" "0" "c.4919G>A" "r.(?)" "p.(Arg1640Gln)" "35"
"0000124087" "00001847" "70" "5929" "0" "5929" "0" "c.5929G>A" "r.(?)" "p.(Gly1977Ser)" "43"
"0000124088" "00001847" "50" "4253" "4" "4253" "4" "c.4253+4C>T" "r.spl?" "p.(?)" "28i"
"0000124089" "00001847" "70" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000124090" "00001847" "70" "5044" "0" "5058" "0" "c.5044_5058del" "r.(?)" "p.(Val1682_Val1686del)" "36"
"0000124091" "00001847" "70" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000124092" "00001847" "70" "6410" "0" "6410" "0" "c.6410G>A" "r.(?)" "p.(Cys2137Tyr)" "47"
"0000124093" "00001847" "70" "52" "0" "52" "0" "c.52C>T" "r.(?)" "p.(Arg18Trp)" "1"
"0000124094" "00001847" "70" "6179" "0" "6179" "0" "c.6179T>G" "r.(?)" "p.(Leu2060Arg)" "45"
"0000124095" "00001847" "70" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000124096" "00001847" "90" "6088" "0" "6088" "0" "c.6088C>T" "r.(?)" "p.(Arg2030*)" "44"
"0000124097" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000124098" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000124099" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000124100" "00001847" "70" "2888" "0" "2888" "0" "c.2888del" "r.(?)" "p.(Gly963Alafs*14)" "19"
"0000124101" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000124102" "00001847" "70" "3874" "0" "3874" "0" "c.3874C>T" "r.(?)" "p.(Gln1292*)" "27"
"0000124103" "00001847" "50" "1613" "0" "1613" "0" "c.1613C>T" "r.(?)" "p.(Ala538Val)" "12"
"0000124104" "00001847" "50" "6148" "0" "6148" "0" "c.6148G>C" "r.(?)" "p.(Val2050Leu)" "45"
"0000124105" "00001847" "50" "4297" "0" "4297" "0" "c.4297G>A" "r.(?)" "p.(Val1433Ile)" "29"
"0000124106" "00001847" "50" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071Cysfs*14)" "22"
"0000124107" "00001847" "50" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071Cysfs*14)" "22"
"0000124108" "00001847" "50" "2888" "0" "2888" "0" "c.2888del" "r.(?)" "p.(Gly963Alafs*14)" "19"
"0000124109" "00001847" "50" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000124110" "00001847" "50" "6320" "0" "6320" "0" "c.6320G>C" "r.(?)" "p.(Arg2107Pro)" "46"
"0000124111" "00001847" "50" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071Cysfs*14)" "22"
"0000124112" "00001847" "50" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000124113" "00001847" "70" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000124114" "00001847" "70" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000124115" "00001847" "70" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000124116" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000124117" "00001847" "70" "2888" "0" "2888" "0" "c.2888del" "r.(?)" "p.(Gly963Alafs*14)" "19"
"0000124118" "00001847" "70" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000124119" "00001847" "50" "5512" "0" "5512" "0" "c.5512C>G" "r.(?)" "p.(His1838Asp)" "39"
"0000124120" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000124121" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000124122" "00001847" "70" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071Cysfs*14)" "22"
"0000124123" "00001847" "70" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000124124" "00001847" "70" "1832" "0" "1832" "0" "c.1832T>C" "r.(?)" "p.(Leu611Pro)" "13"
"0000124125" "00001847" "70" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000124126" "00001847" "70" "3056" "0" "3056" "0" "c.3056C>T" "r.(?)" "p.(Thr1019Met)" "21"
"0000124127" "00001847" "70" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000124128" "00001847" "70" "6179" "0" "6179" "0" "c.6179T>G" "r.(?)" "p.(Leu2060Arg)" "45"
"0000124129" "00001847" "70" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000124130" "00001847" "70" "3056" "0" "3056" "0" "c.3056C>T" "r.(?)" "p.(Thr1019Met)" "21"
"0000124131" "00001847" "70" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000124132" "00001847" "70" "5395" "0" "5395" "0" "c.5395A>G" "r.(?)" "p.(Asn1799Asp)" "38"
"0000124133" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000124134" "00001847" "70" "2888" "0" "2888" "0" "c.2888del" "r.(?)" "p.(Gly963Alafs*14)" "19"
"0000124135" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000124136" "00001847" "70" "1025" "0" "1038" "0" "c.1025_1038del" "r.(?)" "p.(Asp342Glyfs*6)" "8"
"0000124137" "00001847" "70" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000124138" "00001847" "70" "5819" "0" "5819" "0" "c.5819T>C" "r.(?)" "p.(Leu1940Pro)" "41"
"0000124139" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000124140" "00001847" "70" "454" "0" "454" "0" "c.454C>T" "r.(?)" "p.(Arg152*)" "5"
"0000124141" "00001847" "70" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000124142" "00001847" "70" "5044" "0" "5058" "0" "c.5044_5058del" "r.(?)" "p.(Val1682_Val1686del)" "36"
"0000124143" "00001847" "70" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000124144" "00001847" "70" "6449" "0" "6449" "0" "c.6449G>A" "r.(?)" "p.(Cys2150Tyr)" "47"
"0000124145" "00001847" "50" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000124146" "00001847" "70" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.(?)" "38i"
"0000124147" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000124148" "00001847" "70" "2041" "0" "2041" "0" "c.2041C>T" "r.(?)" "p.(Arg681*)" "14"
"0000124149" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000124150" "00001847" "70" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408*)" "9"
"0000124151" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000124152" "00001847" "70" "2888" "0" "2888" "0" "c.2888del" "r.(?)" "p.(Gly963Alafs*14)" "19"
"0000124153" "00001847" "50" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000124154" "00001847" "70" "2382" "5" "2382" "5" "c.2382+5G>C" "r.spl?" "p.(?)" "15i"
"0000124155" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000124156" "00001847" "70" "3" "0" "3" "0" "c.3G>A" "r.(?)" "p.0?" "1"
"0000124157" "00001847" "70" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000124158" "00001847" "70" "1957" "0" "1957" "0" "c.1957C>T" "r.(?)" "p.(Arg653Cys)" "14"
"0000124159" "00001847" "70" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000124160" "00001847" "70" "5549" "0" "5549" "0" "c.5549T>C" "r.(?)" "p.(Leu1850Pro)" "39"
"0000124161" "00001847" "70" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000124162" "00001847" "70" "6410" "0" "6410" "0" "c.6410G>A" "r.(?)" "p.(Cys2137Tyr)" "47"
"0000124163" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000124164" "00001847" "70" "2041" "0" "2041" "0" "c.2041C>T" "r.(?)" "p.(Arg681*)" "14"
"0000124165" "00001847" "70" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000124166" "00001847" "70" "5819" "0" "5819" "0" "c.5819T>C" "r.(?)" "p.(Leu1940Pro)" "41"
"0000124167" "00001847" "70" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000124168" "00001847" "70" "5929" "0" "5929" "0" "c.5929G>A" "r.(?)" "p.(Gly1977Ser)" "43"
"0000124169" "00001847" "70" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000124170" "00001847" "70" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000124171" "00001847" "70" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000124172" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000124173" "00001847" "70" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000124174" "00001847" "70" "6229" "0" "6229" "0" "c.6229C>T" "r.(?)" "p.(Arg2077Trp)" "45"
"0000124175" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000124176" "00001847" "70" "2888" "0" "2888" "0" "c.2888del" "r.(?)" "p.(Gly963Alafs*14)" "19"
"0000124177" "00001847" "70" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000124178" "00001847" "70" "1819" "0" "1819" "0" "c.1819G>A" "r.(?)" "p.(Gly607Arg)" "13"
"0000124179" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000124180" "00001847" "70" "742" "0" "768" "29" "c.742_768+29del" "r.(?)" "p.(Val248_Val256del)" "6"
"0000124181" "00001847" "70" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000124182" "00001847" "70" "5644" "0" "5644" "0" "c.5644A>G" "r.(?)" "p.(Met1882Val)" "40"
"0000124183" "00001847" "70" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000124184" "00001847" "70" "5929" "0" "5929" "0" "c.5929G>A" "r.(?)" "p.(Gly1977Ser)" "43"
"0000124185" "00001847" "70" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000124186" "00001847" "70" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000124187" "00001847" "70" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000124188" "00001847" "70" "5929" "0" "5929" "0" "c.5929G>A" "r.(?)" "p.(Gly1977Ser)" "43"
"0000124189" "00001847" "70" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000124190" "00001847" "70" "52" "0" "52" "0" "c.52C>T" "r.(?)" "p.(Arg18Trp)" "1"
"0000124191" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000124192" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.?" "40i"
"0000124193" "00001847" "70" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000124194" "00001847" "70" "1609" "0" "1609" "0" "c.1609C>T" "r.(?)" "p.(Arg537Cys)" "12"
"0000124195" "00001847" "70" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000124196" "00001847" "50" "5512" "0" "5512" "0" "c.5512C>G" "r.(?)" "p.(His1838Asp)" "39"
"0000124197" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000124198" "00001847" "50" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000124199" "00001847" "70" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.(?)" "38i"
"0000124200" "00001847" "70" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000124201" "00001847" "70" "4457" "0" "4457" "0" "c.4457C>T" "r.(?)" "p.(Pro1486Leu)" "30"
"0000124202" "00001847" "70" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000124203" "00001847" "70" "3056" "0" "3056" "0" "c.3056C>T" "r.(?)" "p.(Thr1019Met)" "21"
"0000124204" "00001847" "70" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000124205" "00001847" "70" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000124206" "00001847" "70" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000124207" "00001847" "70" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000124208" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000124209" "00001847" "70" "6329" "0" "6329" "0" "c.6329G>A" "r.(?)" "p.(Trp2110*)" "46"
"0000124210" "00001847" "70" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000124211" "00001847" "70" "5929" "0" "5929" "0" "c.5929G>A" "r.(?)" "p.(Gly1977Ser)" "43"
"0000124212" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000124213" "00001847" "70" "1766" "0" "1766" "0" "c.1766G>A" "r.(?)" "p.(Trp589*)" "13"
"0000124214" "00001847" "50" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000124215" "00001847" "70" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000124216" "00001847" "50" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000124217" "00001847" "70" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000124218" "00001847" "70" "6320" "0" "6320" "0" "c.6320G>C" "r.(?)" "p.(Arg2107Pro)" "46"
"0000124219" "00001847" "50" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000124220" "00001847" "70" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000124221" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000124222" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.[(Gly863Ala, Gly863del)]" "17"
"0000124223" "00001847" "90" "3163" "0" "3163" "0" "c.3163C>T" "r.(?)" "p.(Arg1055Trp)" "21"
"0000124224" "00001847" "90" "2888" "0" "2888" "0" "c.2888del" "r.(?)" "p.(Gly963Alafs*14)" "19"
"0000124225" "00001847" "50" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000124226" "00001847" "70" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000124227" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000124228" "00001847" "70" "1751" "0" "1753" "0" "c.1751_1753delinsAT" "r.(?)" "p.(Ile584Asnfs*65)" "12"
"0000124229" "00001847" "90" "6179" "0" "6179" "0" "c.6179T>G" "r.(?)" "p.(Leu2060Arg)" "45"
"0000124230" "00001847" "50" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000124231" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000124232" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.?" "40i"
"0000124233" "00001847" "50" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000124234" "00001847" "70" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000124235" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000124236" "00001847" "70" "3758" "0" "3758" "0" "c.3758C>T" "r.(?)" "p.(Thr1253Met)" "25"
"0000124237" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000124238" "00001847" "70" "3943" "0" "3943" "0" "c.3943C>T" "r.(?)" "p.(Gln1315*)" "27"
"0000124239" "00001847" "50" "4222" "0" "4222" "0" "c.4222T>C" "r.(?)" "p.(Trp1408Arg)" "28"
"0000124240" "00001847" "70" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" "35"
"0000124241" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000124242" "00001847" "90" "5929" "0" "5929" "0" "c.5929G>A" "r.(?)" "p.(Gly1977Ser)" "43"
"0000124243" "00001847" "70" "982" "0" "982" "0" "c.982G>T" "r.(?)" "p.(Glu328*)" "8"
"0000124244" "00001847" "50" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(?)" "p.(?)" "38i"
"0000124245" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000124246" "00001847" "70" "982" "0" "982" "0" "c.982G>T" "r.(?)" "p.(Glu328*)" "8"
"0000124247" "00001847" "90" "4200" "0" "4200" "0" "c.4200C>A" "r.(?)" "p.(Tyr1400*)" "28"
"0000124248" "00001847" "90" "5018" "2" "5018" "2" "c.5018+2T>C" "r.spl?" "p.(?)" "35i"
"0000124249" "00001847" "70" "5819" "0" "5819" "0" "c.5819T>C" "r.(?)" "p.(Leu1940Pro)" "41"
"0000124250" "00001847" "90" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071Cysfs*14)" "22"
"0000124251" "00001847" "90" "2041" "0" "2041" "0" "c.2041C>T" "r.(?)" "p.(Arg681*)" "14"
"0000124252" "00001847" "70" "6410" "0" "6410" "0" "c.6410G>A" "r.(?)" "p.(Cys2137Tyr)" "47"
"0000124253" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000124254" "00001847" "70" "4668" "-1" "4668" "-1" "c.4668-1G>A" "r.spl" "p.?" "32i"
"0000124255" "00001847" "90" "3056" "0" "3056" "0" "c.3056C>T" "r.(?)" "p.(Thr1019Met)" "21"
"0000124256" "00001847" "70" "3943" "0" "3943" "0" "c.3943C>T" "r.(?)" "p.(Gln1315*)" "27"
"0000124257" "00001847" "90" "2791" "0" "2791" "0" "c.2791G>A" "r.(?)" "p.(Val931Met)" "19"
"0000124258" "00001847" "70" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071Cysfs*14)" "22"
"0000124259" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>C" "r.(?)" "p.(Arg2107Pro)" "46"
"0000124260" "00001847" "70" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071Cysfs*14)" "22"
"0000124261" "00001847" "50" "4253" "4" "4253" "4" "c.4253+4C>T" "r.spl?" "p.(?)" "28i"
"0000124262" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000124263" "00001847" "70" "4234" "0" "4234" "0" "c.4234C>T" "r.(?)" "p.(Gln1412*)" "28"
"0000124264" "00001847" "70" "5044" "0" "5058" "0" "c.5044_5058del" "r.(?)" "p.(Val1682_Val1686del)" "36"
"0000124265" "00001847" "70" "5819" "0" "5819" "0" "c.5819T>C" "r.(?)" "p.(Leu1940Pro)" "41"
"0000124266" "00001847" "70" "6449" "0" "6449" "0" "c.6449G>A" "r.(?)" "p.(Cys2150Tyr)" "47"
"0000124267" "00001847" "70" "5819" "0" "5819" "0" "c.5819T>C" "r.(?)" "p.(Leu1940Pro)" "41"
"0000124268" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000124269" "00001847" "90" "6563" "0" "6563" "0" "c.6563T>C" "r.(?)" "p.(Phe2188Ser)" "48"
"0000124270" "00001847" "70" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071Cysfs*14)" "22"
"0000124271" "00001847" "70" "3364" "0" "3364" "0" "c.3364G>A" "r.(?)" "p.(Glu1122Lys)" "23"
"0000124272" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000124273" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000124274" "00001847" "70" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071Cysfs*14)" "22"
"0000124275" "00001847" "90" "2966" "0" "2966" "0" "c.2966T>C" "r.(?)" "p.(Val989Ala)" "20"
"0000124276" "00001847" "70" "3988" "0" "3988" "0" "c.3988G>T" "r.(?)" "p.(Glu1330*)" "27"
"0000124277" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000124278" "00001847" "70" "4537" "0" "4537" "0" "c.4537dup" "r.(?)" "p.(Gln1513Profs*42)" "30"
"0000124279" "00001847" "70" "6449" "0" "6449" "0" "c.6449G>A" "r.(?)" "p.(Cys2150Tyr)" "47"
"0000124280" "00001847" "70" "5044" "0" "5058" "0" "c.5044_5058del" "r.(?)" "p.(Val1682_Val1686del)" "36"
"0000124281" "00001847" "70" "3292" "0" "3292" "0" "c.3292C>T" "r.(?)" "p.(Arg1098Cys)" "22"
"0000124282" "00001847" "70" "4919" "0" "4919" "0" "c.4919G>A" "r.(?)" "p.(Arg1640Gln)" "35"
"0000124283" "00001847" "70" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000124284" "00001847" "70" "3287" "0" "3287" "0" "c.3287C>T" "r.(?)" "p.(Ser1096Leu)" "22"
"0000124285" "00001847" "70" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" "35"
"0000124286" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000124287" "00001847" "90" "5044" "0" "5058" "0" "c.5044_5058del" "r.(?)" "p.(Val1682_Val1686del)" "36"
"0000124288" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.?" "40i"
"0000124289" "00001847" "90" "4457" "0" "4457" "0" "c.4457C>T" "r.(?)" "p.(Pro1486Leu)" "30"
"0000124290" "00001847" "70" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408*)" "9"
"0000124291" "00001847" "70" "2057" "0" "2057" "0" "c.2057T>C" "r.(?)" "p.(Leu686Ser)" "14"
"0000124292" "00001847" "70" "4069" "0" "4069" "0" "c.4069G>A" "r.(?)" "p.(Ala1357Thr)" "27"
"0000124293" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000124294" "00001847" "70" "4003" "0" "4004" "0" "c.4003_4004del" "r.(?)" "p.(Pro1335Argfs*86)" "27"
"0000124295" "00001847" "50" "4069" "0" "4069" "0" "c.4069G>A" "r.(?)" "p.(Ala1357Thr)" "27"
"0000124296" "00001847" "70" "4253" "5" "4253" "5" "c.4253+5G>A" "r.spl" "p.?" "28i"
"0000124297" "00001847" "70" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000124298" "00001847" "70" "5929" "0" "5929" "0" "c.5929G>A" "r.(?)" "p.(Gly1977Ser)" "43"
"0000124299" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000124300" "00001847" "70" "6179" "0" "6179" "0" "c.6179T>G" "r.(?)" "p.(Leu2060Arg)" "45"
"0000124301" "00001847" "70" "4793" "0" "4793" "0" "c.4793C>A" "r.(?)" "p.(Ala1598Asp)" "34"
"0000124302" "00001847" "70" "5819" "0" "5819" "0" "c.5819T>C" "r.(?)" "p.(Leu1940Pro)" "41"
"0000124303" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000124304" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.?" "40i"
"0000124305" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000124306" "00001847" "90" "6179" "0" "6179" "0" "c.6179T>G" "r.(?)" "p.(Leu2060Arg)" "45"
"0000124307" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000124308" "00001847" "70" "5531" "0" "5531" "0" "c.5531G>A" "r.(?)" "p.(Gly1844Asp)" "39"
"0000124309" "00001847" "70" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000124310" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000124311" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000124312" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.?" "40i"
"0000124313" "00001847" "70" "3056" "0" "3056" "0" "c.3056C>T" "r.(?)" "p.(Thr1019Met)" "21"
"0000124314" "00001847" "70" "3323" "0" "3323" "0" "c.3323G>A" "r.(?)" "p.(Arg1108His)" "22"
"0000124315" "00001847" "90" "3323" "0" "3323" "0" "c.3323G>A" "r.(?)" "p.(Arg1108His)" "22"
"0000124316" "00001847" "70" "3862" "1" "3862" "1" "c.3862+1G>A" "r.spl" "p.?" "26i"
"0000124317" "00001847" "70" "4297" "0" "4297" "0" "c.4297G>A" "r.(?)" "p.(Val1433Ile)" "29"
"0000124318" "00001847" "30" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000124319" "00001847" "90" "2791" "0" "2791" "0" "c.2791G>A" "r.(?)" "p.(Val931Met)" "19"
"0000124320" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.?" "40i"
"0000124321" "00001847" "70" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000124322" "00001847" "90" "4457" "0" "4457" "0" "c.4457C>T" "r.(?)" "p.(Pro1486Leu)" "30"
"0000124323" "00001847" "70" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071Cysfs*14)" "22"
"0000124324" "00001847" "50" "1592" "0" "1592" "0" "c.1592A>G" "r.(?)" "p.(Glu531Gly)" "12"
"0000124325" "00001847" "70" "4253" "4" "4253" "4" "c.4253+4C>T" "r.spl?" "p.(?)" "28i"
"0000124326" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000124327" "00001847" "70" "6179" "0" "6179" "0" "c.6179T>G" "r.(?)" "p.(Leu2060Arg)" "45"
"0000124328" "00001847" "70" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071Cysfs*14)" "22"
"0000124329" "00001847" "90" "3281" "0" "3281" "0" "c.3281C>G" "r.(?)" "p.(Pro1094Arg)" "22"
"0000124330" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000124331" "00001847" "90" "4537" "0" "4537" "0" "c.4537dup" "r.(?)" "p.(Gln1513Profs*42)" "30"
"0000124332" "00001847" "70" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071Cysfs*14)" "22"
"0000124333" "00001847" "90" "5881" "0" "5881" "0" "c.5881G>A" "r.(?)" "p.(Gly1961Arg)" "42"
"0000124334" "00001847" "70" "4457" "0" "4457" "0" "c.4457C>T" "r.(?)" "p.(Pro1486Leu)" "30"
"0000124335" "00001847" "70" "5929" "0" "5929" "0" "c.5929G>A" "r.(?)" "p.(Gly1977Ser)" "43"
"0000124336" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000124337" "00001847" "70" "6179" "0" "6179" "0" "c.6179T>G" "r.(?)" "p.(Leu2060Arg)" "45"
"0000124338" "00001847" "90" "3292" "0" "3292" "0" "c.3292C>T" "r.(?)" "p.(Arg1098Cys)" "22"
"0000124339" "00001847" "70" "4773" "1" "4773" "1" "c.4773+1G>T" "r.spl" "p.?" "33i"
"0000124340" "00001847" "70" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" "35"
"0000124341" "00001847" "70" "457" "0" "457" "0" "c.457A>T" "r.(?)" "p.(Ile153Leu)" "5"
"0000124342" "00001847" "70" "5512" "0" "5512" "0" "c.5512C>G" "r.(?)" "p.(His1838Asp)" "39"
"0000124343" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000124344" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000124345" "00001847" "90" "6147" "2" "6147" "2" "c.6147+2T>A" "r.spl" "p.?" "44i"
"0000124346" "00001847" "70" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000124347" "00001847" "70" "4457" "0" "4457" "0" "c.4457C>T" "r.(?)" "p.(Pro1486Leu)" "30"
"0000124348" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000124349" "00001847" "70" "1025" "0" "1038" "0" "c.1025_1038del" "r.(?)" "p.(Asp342Glyfs*6)" "8"
"0000124350" "00001847" "90" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" "31"
"0000124351" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.?" "40i"
"0000124352" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000124353" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000124354" "00001847" "70" "6449" "0" "6449" "0" "c.6449G>A" "r.(?)" "p.(Cys2150Tyr)" "47"
"0000124355" "00001847" "70" "6230" "0" "6230" "0" "c.6230G>A" "r.(?)" "p.(Arg2077Gln)" "45"
"0000124356" "00001847" "70" "3323" "0" "3323" "0" "c.3323G>A" "r.(?)" "p.(Arg1108His)" "22"
"0000124357" "00001847" "70" "5044" "0" "5058" "0" "c.5044_5058del" "r.(?)" "p.(Val1682_Val1686del)" "36"
"0000124358" "00001847" "70" "5819" "0" "5819" "0" "c.5819T>C" "r.(?)" "p.(Leu1940Pro)" "41"
"0000124359" "00001847" "70" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" "44"
"0000124360" "00001847" "70" "4919" "0" "4919" "0" "c.4919G>A" "r.(?)" "p.(Arg1640Gln)" "35"
"0000124361" "00001847" "70" "5819" "0" "5819" "0" "c.5819T>C" "r.(?)" "p.(Leu1940Pro)" "41"
"0000124362" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000124363" "00001847" "90" "6118" "0" "6118" "0" "c.6118C>T" "r.(?)" "p.(Arg2040*)" "44"
"0000124364" "00001847" "70" "5819" "0" "5819" "0" "c.5819T>C" "r.(?)" "p.(Leu1940Pro)" "41"
"0000124365" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000124366" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000124367" "00001847" "70" "1714" "0" "1714" "0" "c.1714C>T" "r.(?)" "p.(Arg572*)" "12"
"0000124368" "00001847" "70" "3364" "0" "3364" "0" "c.3364G>A" "r.(?)" "p.(Glu1122Lys)" "23"
"0000124369" "00001847" "70" "871" "0" "871" "0" "c.871C>G" "r.(?)" "p.(Pro291Ala)" "8"
"0000124370" "00001847" "50" "6718" "0" "6718" "0" "c.6718A>G" "r.(?)" "p.(Thr2240Ala)" "48"
"0000124371" "00001847" "70" "4253" "5" "4253" "5" "c.4253+5G>A" "r.spl" "p.?" "28i"
"0000124372" "00001847" "90" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" "44"
"0000124373" "00001847" "70" "735" "0" "735" "0" "c.735T>G" "r.(?)" "p.(Tyr245*)" "6"
"0000124374" "00001847" "50" "4253" "4" "4253" "4" "c.4253+4C>T" "r.spl?" "p.(?)" "28i"
"0000124375" "00001847" "90" "1819" "0" "1819" "0" "c.1819G>A" "r.(?)" "p.(Gly607Arg)" "13"
"0000124376" "00001847" "50" "6148" "0" "6148" "0" "c.6148G>C" "r.(?)" "p.(Val2050Leu)" "45"
"0000124377" "00001847" "50" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000124378" "00001847" "50" "3056" "0" "3056" "0" "c.3056C>T" "r.(?)" "p.(Thr1019Met)" "21"
"0000124379" "00001847" "50" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.?" "40i"
"0000124380" "00001847" "50" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000124381" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000124382" "00001847" "50" "2791" "0" "2791" "0" "c.2791G>A" "r.(?)" "p.(Val931Met)" "19"
"0000124383" "00001847" "50" "4297" "0" "4297" "0" "c.4297G>A" "r.(?)" "p.(Val1433Ile)" "29"
"0000124384" "00001847" "50" "2791" "0" "2791" "0" "c.2791G>A" "r.(?)" "p.(Val931Met)" "19"
"0000124385" "00001847" "50" "5929" "0" "5929" "0" "c.5929G>A" "r.(?)" "p.(Gly1977Ser)" "43"
"0000124386" "00001847" "50" "5761" "0" "5761" "0" "c.5761G>A" "r.(?)" "p.(Val1921Met)" "41"
"0000124387" "00001847" "50" "6721" "0" "6721" "0" "c.6721C>G" "r.(?)" "p.(Leu2241Val)" "48"
"0000124388" "00001847" "50" "6147" "2" "6147" "2" "c.6147+2T>A" "r.spl" "p.?" "44i"
"0000124389" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000124390" "00001847" "50" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000124391" "00001847" "50" "1715" "0" "1715" "0" "c.1715G>C" "r.(?)" "p.(Arg572Pro)" "12"
"0000124392" "00001847" "50" "3292" "0" "3292" "0" "c.3292C>T" "r.(?)" "p.(Arg1098Cys)" "22"
"0000124393" "00001847" "50" "6147" "2" "6147" "2" "c.6147+2T>A" "r.spl" "p.?" "44i"
"0000124394" "00001847" "50" "2791" "0" "2791" "0" "c.2791G>A" "r.(?)" "p.(Val931Met)" "19"
"0000124395" "00001847" "50" "5914" "0" "5914" "0" "c.5914G>A" "r.(?)" "p.(Gly1972Arg)" "43"
"0000124396" "00001847" "50" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071Cysfs*14)" "22"
"0000124397" "00001847" "50" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071Cysfs*14)" "22"
"0000124398" "00001847" "50" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000124399" "00001847" "50" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071Cysfs*14)" "22"
"0000124400" "00001847" "50" "6148" "0" "6148" "0" "c.6148G>C" "r.(?)" "p.(Val2050Leu)" "45"
"0000124401" "00001847" "50" "4297" "0" "4297" "0" "c.4297G>A" "r.(?)" "p.(Val1433Ile)" "29"
"0000124402" "00001847" "50" "6148" "0" "6148" "0" "c.6148G>C" "r.(?)" "p.(Val2050Leu)" "45"
"0000124403" "00001847" "50" "4457" "0" "4457" "0" "c.4457C>T" "r.(?)" "p.(Pro1486Leu)" "30"
"0000124404" "00001847" "50" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000124405" "00001847" "50" "4253" "5" "4253" "5" "c.4253+5G>A" "r.spl" "p.?" "28i"
"0000124406" "00001847" "50" "4919" "0" "4919" "0" "c.4919G>A" "r.(?)" "p.(Arg1640Gln)" "35"
"0000124407" "00001847" "50" "4253" "5" "4253" "5" "c.4253+5G>A" "r.spl" "p.?" "28i"
"0000124408" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000124409" "00001847" "50" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000124410" "00001847" "50" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(?)" "p.(?)" "38i"
"0000124411" "00001847" "50" "454" "0" "454" "0" "c.454C>T" "r.(?)" "p.(Arg152*)" "5"
"0000124412" "00001847" "50" "5819" "0" "5819" "0" "c.5819T>C" "r.(?)" "p.(Leu1940Pro)" "41"
"0000124413" "00001847" "50" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" "35"
"0000124414" "00001847" "50" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000124415" "00001847" "50" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000124416" "00001847" "70" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000124417" "00001847" "70" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000124418" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000124419" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000124420" "00001847" "90" "2713" "0" "2713" "0" "c.2713del" "r.(?)" "p.(Glu905Argfs*27)" "18"
"0000124421" "00001847" "70" "2791" "0" "2791" "0" "c.2791G>A" "r.(?)" "p.(Val931Met)" "19"
"0000124422" "00001847" "70" "5114" "0" "5114" "0" "c.5114G>A" "r.(?)" "p.(Arg1705Gln)" "36"
"0000124423" "00001847" "70" "4462" "0" "4462" "0" "c.4462T>C" "r.(?)" "p.(Cys1488Arg)" "30"
"0000124424" "00001847" "70" "4462" "0" "4462" "0" "c.4462T>C" "r.(?)" "p.(Cys1488Arg)" "30"
"0000124425" "00001847" "70" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" "35"
"0000124426" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000124427" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000124428" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000124429" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000124430" "00001847" "90" "3898" "0" "3898" "0" "c.3898C>T" "r.(?)" "p.(Arg1300*)" "27"
"0000124431" "00001847" "50" "4253" "4" "4253" "4" "c.4253+4C>T" "r.spl?" "p.(?)" "28i"
"0000124432" "00001847" "90" "6658" "0" "6658" "0" "c.6658C>T" "r.(?)" "p.(Gln2220*)" "48"
"0000124433" "00001847" "90" "6658" "0" "6658" "0" "c.6658C>T" "r.(?)" "p.(Gln2220*)" "48"
"0000124434" "00001847" "90" "6658" "0" "6658" "0" "c.6658C>T" "r.(?)" "p.(Gln2220*)" "48"
"0000124435" "00001847" "90" "6658" "0" "6658" "0" "c.6658C>T" "r.(?)" "p.(Gln2220*)" "48"
"0000124436" "00001847" "70" "4604" "0" "4604" "0" "c.4604dup" "r.(?)" "p.(Thr1537Asnfs*18)" "31"
"0000124437" "00001847" "90" "1957" "0" "1957" "0" "c.1957C>T" "r.(?)" "p.(Arg653Cys)" "14"
"0000124438" "00001847" "30" "4738" "0" "4739" "0" "c.4738_4739del" "r.(?)" "p.(Leu1580Lysfs*16)" "33"
"0000124439" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000124440" "00001847" "50" "2829" "0" "2829" "0" "c.2829del" "r.(?)" "p.(Pro944Glnfs*6)" "19"
"0000124441" "00001847" "50" "66" "3" "66" "3" "c.66+3A>C" "r.spl?" "p.(?)" "1i"
"0000124442" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000124443" "00001847" "90" "3266" "0" "3266" "0" "c.3266C>T" "r.(?)" "p.(Thr1089Ile)" "22"
"0000124444" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000124445" "00001847" "50" "1865" "0" "1865" "0" "c.1865del" "r.(?)" "p.(Ser622Thrfs*27)" "13"
"0000124446" "00001847" "70" "3626" "0" "3626" "0" "c.3626T>C" "r.(?)" "p.(Met1209Thr)" "25"
"0000124447" "00001847" "30" "4739" "0" "4739" "0" "c.4739T>C" "r.(?)" "p.(Leu1580Ser)" "33"
"0000124448" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000124449" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000124450" "00001847" "50" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.?" "40i"
"0000124451" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000124452" "00001847" "70" "2864" "0" "2864" "0" "c.2864A>G" "r.(?)" "p.(Glu955Gly)" "19"
"0000124453" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000124454" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000124455" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000124456" "00001847" "70" "2864" "0" "2864" "0" "c.2864A>G" "r.(?)" "p.(Glu955Gly)" "19"
"0000124457" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000124458" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.?" "40i"
"0000124459" "00001847" "50" "1937" "1" "1937" "1" "c.1937+1G>A" "r.spl" "p.?" "13i"
"0000124460" "00001847" "50" "191" "0" "191" "0" "c.191C>T" "r.(?)" "p.(Ala64Val)" "3"
"0000124461" "00001847" "70" "1805" "0" "1805" "0" "c.1805G>A" "r.(?)" "p.(Arg602Gln)" "13"
"0000124462" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000124463" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000124464" "00001847" "70" "6709" "0" "6709" "0" "c.6709dup" "r.(?)" "p.(Thr2237Asnfs*14)" "48"
"0000124465" "00001847" "50" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000124466" "00001847" "50" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000124467" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.(?)" "38i"
"0000124468" "00001847" "70" "5018" "2" "5018" "2" "c.5018+2T>C" "r.spl?" "p.(?)" "35i"
"0000124469" "00001847" "90" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000124470" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000124471" "00001847" "30" "4216" "0" "4216" "0" "c.4216C>T" "r.(?)" "p.(His1406Tyr)" "28"
"0000124472" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000124473" "00001847" "90" "4594" "0" "4594" "0" "c.4594G>A" "r.(?)" "p.(Asp1532Asn)" "31"
"0000124474" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000124475" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000124476" "00001847" "70" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" "44"
"0000124477" "00001847" "30" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.(?)" "6"
"0000124478" "00001847" "50" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000124479" "00001847" "70" "1760" "1" "1760" "1" "c.1760+1G>T" "r.spl" "p.?" "12i"
"0000124480" "00001847" "90" "4594" "0" "4594" "0" "c.4594G>T" "r.(?)" "p.(Asp1532Tyr)" "31"
"0000124481" "00001847" "90" "1805" "0" "1805" "0" "c.1805G>A" "r.(?)" "p.(Arg602Gln)" "13"
"0000124482" "00001847" "70" "3898" "0" "3898" "0" "c.3898C>T" "r.(?)" "p.(Arg1300*)" "27"
"0000124483" "00001847" "70" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.(?)" "38i"
"0000124484" "00001847" "50" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" "44"
"0000124485" "00001847" "90" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" "44"
"0000124486" "00001847" "70" "6118" "0" "6118" "0" "c.6118C>T" "r.(?)" "p.(Arg2040*)" "44"
"0000124487" "00001847" "70" "71" "0" "71" "0" "c.71G>A" "r.(?)" "p.(Arg24His)" "2"
"0000124488" "00001847" "70" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" "31"
"0000124489" "00001847" "90" "658" "0" "658" "0" "c.658C>T" "r.(?)" "p.(Arg220Cys)" "6"
"0000124490" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000124491" "00001847" "30" "1957" "0" "1957" "0" "c.1957C>T" "r.(?)" "p.(Arg653Cys)" "14"
"0000124492" "00001847" "70" "5693" "0" "5693" "0" "c.5693G>A" "r.(?)" "p.(Arg1898His)" "40"
"0000124493" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000124494" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000124495" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000124496" "00001847" "70" "4594" "0" "4594" "0" "c.4594G>A" "r.(?)" "p.(Asp1532Asn)" "31"
"0000124497" "00001847" "70" "4222" "0" "4222" "0" "c.4222T>C" "r.(?)" "p.(Trp1408Arg)" "28"
"0000124498" "00001847" "70" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" "35"
"0000124499" "00001847" "70" "4222" "0" "4222" "0" "c.4222T>C" "r.(?)" "p.(Trp1408Arg)" "28"
"0000124500" "00001847" "70" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" "35"
"0000124501" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000124502" "00001847" "70" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" "44"
"0000124503" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000124504" "00001847" "50" "4956" "0" "4956" "0" "c.4956T>G" "r.(?)" "p.(Tyr1652*)" "35"
"0000124505" "00001847" "50" "5018" "2" "5018" "2" "c.5018+2T>C" "r.spl?" "p.(?)" "35i"
"0000124506" "00001847" "50" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(?)" "p.(?)" "38i"
"0000124507" "00001847" "50" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(?)" "p.(?)" "38i"
"0000124508" "00001847" "90" "1805" "0" "1805" "0" "c.1805G>A" "r.(?)" "p.(Arg602Gln)" "13"
"0000124509" "00001847" "50" "1957" "0" "1957" "0" "c.1957C>T" "r.(?)" "p.(Arg653Cys)" "14"
"0000124510" "00001847" "50" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000124511" "00001847" "50" "3602" "0" "3602" "0" "c.3602T>G" "r.(?)" "p.(Leu1201Arg)" "24"
"0000124512" "00001847" "50" "3602" "0" "3602" "0" "c.3602T>G" "r.(?)" "p.(Leu1201Arg)" "24"
"0000124513" "00001847" "50" "4319" "0" "4319" "0" "c.4319T>C" "r.(?)" "p.(Phe1440Ser)" "29"
"0000124514" "00001847" "50" "4685" "0" "4685" "0" "c.4685T>C" "r.(?)" "p.(Ile1562Thr)" "33"
"0000124515" "00001847" "50" "4926" "0" "4926" "0" "c.4926C>G" "r.(?)" "p.(Ser1642Arg)" "35"
"0000124516" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000124517" "00001847" "50" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000124518" "00001847" "50" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000124519" "00001847" "70" "161" "0" "161" "0" "c.161G>A" "r.(?)" "p.(Cys54Tyr, ?)" "3"
"0000124520" "00001847" "90" "2297" "0" "2297" "0" "c.2297G>T" "r.(?)" "p.(Gly766Val)" "15"
"0000124521" "00001847" "70" "223" "0" "223" "0" "c.223T>G" "r.(?)" "p.(Cys75Gly)" "3"
"0000124522" "00001847" "70" "5088" "0" "5088" "0" "c.5088C>G" "r.(?)" "p.(Ser1696Arg)" "36"
"0000124523" "00001847" "90" "740" "0" "740" "0" "c.740A>C" "r.(?)" "p.(Asn247Thr)" "6"
"0000124524" "00001847" "70" "2345" "0" "2345" "0" "c.2345G>A" "r.(?)" "p.(Trp782*)" "15"
"0000124525" "00001847" "50" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.(?)" "6"
"0000124526" "00001847" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408*)" "9"
"0000124527" "00001847" "90" "2568" "0" "2568" "0" "c.2568C>A" "r.(?)" "p.(Tyr856*)" "16"
"0000124528" "00001847" "50" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000124529" "00001847" "70" "859" "-9" "859" "-9" "c.859-9T>C" "r.(?)" "p.(?)" "7i"
"0000124530" "00001847" "70" "1805" "0" "1805" "0" "c.1805G>A" "r.(?)" "p.(Arg602Gln)" "13"
"0000124531" "00001847" "70" "5113" "0" "5113" "0" "c.5113C>T" "r.(?)" "p.(Arg1705Trp)" "36"
"0000124532" "00001847" "50" "1922" "0" "1922" "0" "c.1922G>C" "r.(?)" "p.(Cys641Ser)" "13"
"0000124533" "00001847" "50" "1957" "0" "1957" "0" "c.1957C>T" "r.(?)" "p.(Arg653Cys)" "14"
"0000124534" "00001847" "50" "1957" "0" "1957" "0" "c.1957C>T" "r.(?)" "p.(Arg653Cys)" "14"
"0000124535" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000124536" "00001847" "90" "655" "0" "655" "0" "c.655A>T" "r.(?)" "p.(Arg219*)" "6"
"0000124537" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000124538" "00001847" "90" "1906" "0" "1906" "0" "c.1906C>T" "r.(?)" "p.(Gln636*)" "13"
"0000124539" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000124540" "00001847" "90" "1906" "0" "1906" "0" "c.1906C>T" "r.(?)" "p.(Gln636*)" "13"
"0000124541" "00001847" "50" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000124542" "00001847" "50" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000124543" "00001847" "70" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000124544" "00001847" "70" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000124545" "00001847" "50" "3064" "0" "3064" "0" "c.3064G>A" "r.(?)" "p.(Glu1022Lys)" "21"
"0000124546" "00001847" "70" "6729" "5" "6729" "19" "c.6729+5_6729+19del" "r.spl?" "p.(?)" "48i"
"0000124547" "00001847" "50" "3064" "0" "3064" "0" "c.3064G>A" "r.(?)" "p.(Glu1022Lys)" "21"
"0000124548" "00001847" "70" "3208" "0" "3209" "0" "c.3208_3209insGT" "r.(?)" "p.(Leu1070Argfs*15)" "22"
"0000124549" "00001847" "90" "2942" "0" "2942" "0" "c.2942C>T" "r.(?)" "p.(Phe981Leu)" "20"
"0000124550" "00001847" "70" "3208" "0" "3209" "0" "c.3208_3209insGT" "r.(?)" "p.(Leu1070Argfs*15)" "22"
"0000124551" "00001847" "90" "1519" "0" "1519" "0" "c.1519G>T" "r.(?)" "p.(Asp507Tyr)" "11"
"0000124552" "00001847" "90" "3208" "0" "3209" "0" "c.3208_3209insGT" "r.(?)" "p.(Leu1070Argfs*15)" "22"
"0000124553" "00001847" "90" "4634" "0" "4634" "0" "c.4634G>A" "r.(?)" "p.(Ser1545Asn, ?)" "31"
"0000124554" "00001847" "50" "3208" "0" "3209" "0" "c.3208_3209insGT" "r.(?)" "p.(Leu1070Argfs*15)" "22"
"0000124555" "00001847" "70" "3292" "0" "3292" "0" "c.3292C>T" "r.(?)" "p.(Arg1098Cys)" "22"
"0000124556" "00001847" "70" "3299" "0" "3299" "0" "c.3299T>A" "r.(?)" "p.(Ile1100Asn)" "22"
"0000124557" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000124558" "00001847" "70" "4981" "0" "4981" "0" "c.4981del" "r.(?)" "p.(Leu1661*)" "35"
"0000124559" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>A" "r.(?)" "p.(Arg1129His)" "23"
"0000124560" "00001847" "70" "3208" "0" "3209" "0" "c.3208_3209insGT" "r.(?)" "p.(Leu1070Argfs*15)" "22"
"0000124561" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000124562" "00001847" "70" "3191" "-1" "3191" "-1" "c.3191-1G>T" "r.spl" "p.?" "21i"
"0000124563" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000124564" "00001847" "70" "3398" "0" "3398" "0" "c.3398T>C" "r.(?)" "p.(Ile1133Thr)" "23"
"0000124565" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000124566" "00001847" "70" "4070" "0" "4070" "0" "c.4070C>A" "r.(?)" "p.(Ala1357Glu)" "27"
"0000124567" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000124568" "00001847" "70" "4773" "0" "4773" "0" "c.4773G>C" "r.(?)" "p.(=, ?)" "33"
"0000124569" "00001847" "50" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000124570" "00001847" "50" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000124571" "00001847" "50" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000124572" "00001847" "50" "4234" "0" "4234" "0" "c.4234C>T" "r.(?)" "p.(Gln1412*)" "28"
"0000124573" "00001847" "50" "4319" "0" "4319" "0" "c.4319T>C" "r.(?)" "p.(Phe1440Ser)" "29"
"0000124574" "00001847" "90" "4328" "0" "4328" "0" "c.4328G>A" "r.(?)" "p.(Arg1443His)" "29"
"0000124575" "00001847" "70" "180" "0" "180" "0" "c.180del" "r.(?)" "p.(Met61Cysfs*17)" "3"
"0000124576" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000124577" "00001847" "70" "1726" "0" "1726" "0" "c.1726G>C" "r.(?)" "p.(Asp576His)" "12"
"0000124578" "00001847" "50" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000124579" "00001847" "70" "4537" "0" "4537" "0" "c.4537dup" "r.(?)" "p.(Gln1513Profs*42)" "30"
"0000124580" "00001847" "90" "5578" "0" "5578" "0" "c.5578C>T" "r.(?)" "p.(Arg1860Trp)" "39"
"0000124581" "00001847" "50" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" "31"
"0000124582" "00001847" "70" "4926" "0" "4926" "0" "c.4926C>G" "r.(?)" "p.(Ser1642Arg)" "35"
"0000124583" "00001847" "70" "5044" "0" "5058" "0" "c.5044_5058del" "r.(?)" "p.(Val1682_Val1686del)" "36"
"0000124584" "00001847" "50" "4956" "0" "4956" "0" "c.4956T>G" "r.(?)" "p.(Tyr1652*)" "35"
"0000124585" "00001847" "50" "5018" "2" "5018" "2" "c.5018+2T>C" "r.spl?" "p.(?)" "35i"
"0000124586" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.(?)" "38i"
"0000124587" "00001847" "50" "6385" "0" "6385" "0" "c.6385A>G" "r.(?)" "p.(Ser2129Gly)" "46"
"0000124588" "00001847" "50" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(?)" "p.(?)" "38i"
"0000124589" "00001847" "50" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(?)" "p.(?)" "38i"
"0000124590" "00001847" "50" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(?)" "p.(?)" "38i"
"0000124591" "00001847" "50" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(?)" "p.(?)" "38i"
"0000124592" "00001847" "50" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(?)" "p.(?)" "38i"
"0000124593" "00001847" "50" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(?)" "p.(?)" "38i"
"0000124594" "00001847" "50" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(?)" "p.(?)" "38i"
"0000124595" "00001847" "50" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(?)" "p.(?)" "38i"
"0000124596" "00001847" "70" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.(?)" "38i"
"0000124597" "00001847" "50" "6209" "0" "6209" "0" "c.6209C>G" "r.(?)" "p.(Thr2070Arg)" "45"
"0000124598" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000124599" "00001847" "70" "2686" "0" "2686" "0" "c.2686A>G" "r.(?)" "p.(Lys896Glu)" "18"
"0000124600" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000124601" "00001847" "70" "3050" "1" "3050" "1" "c.3050+1G>C" "r.spl" "p.?" "20i"
"0000124602" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000124603" "00001847" "70" "3392" "0" "3393" "0" "c.3392_3393delinsG" "r.(?)" "p.(Ala1131Glyfs*17)" "23"
"0000124604" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000124605" "00001847" "70" "4539" "2" "4539" "2" "c.4539+2T>G" "r.spl" "p.?" "30i"
"0000124606" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000124607" "00001847" "70" "4552" "0" "4552" "0" "c.4552A>C" "r.(?)" "p.(Ser1518Arg)" "31"
"0000124608" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000124609" "00001847" "70" "5899" "-2" "5899" "-2" "c.5899-2del" "r.spl" "p.?" "42i"
"0000124610" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000124611" "00001847" "90" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000124612" "00001847" "70" "1906" "0" "1906" "0" "c.1906C>T" "r.(?)" "p.(Gln636*)" "13"
"0000124613" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000124614" "00001847" "70" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000124615" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000124616" "00001847" "70" "3370" "0" "3370" "0" "c.3370G>T" "r.(?)" "p.(Asp1124Tyr)" "23"
"0000124617" "00001847" "50" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000124618" "00001847" "70" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" "44"
"0000124619" "00001847" "70" "4326" "0" "4326" "0" "c.4326C>A" "r.(?)" "p.(Asn1442Lys)" "29"
"0000124620" "00001847" "50" "6445" "0" "6445" "0" "c.6445C>T" "r.(?)" "p.(Arg2149*)" "47"
"0000124621" "00001847" "90" "6709" "0" "6709" "0" "c.6709A>C" "r.(?)" "p.(Thr2237Pro)" "48"
"0000124622" "00001847" "70" "5899" "-3" "5899" "-2" "c.5899-3_5899-2del" "r.spl" "p.?" "42i"
"0000124623" "00001847" "70" "2971" "0" "2971" "0" "c.2971G>C" "r.(?)" "p.(Gly991Arg)" "20"
"0000124624" "00001847" "70" "4538" "0" "4538" "0" "c.4538A>G" "r.(?)" "p.(Gln1513Arg)" "30"
"0000124625" "00001847" "70" "3602" "0" "3602" "0" "c.3602T>G" "r.(?)" "p.(Leu1201Arg)" "24"
"0000124626" "00001847" "30" "1749" "0" "1749" "0" "c.1749G>C" "r.(?)" "p.(Lys583Asn)" "12"
"0000124627" "00001847" "90" "3602" "0" "3602" "0" "c.3602T>G" "r.(?)" "p.(Leu1201Arg)" "24"
"0000124628" "00001847" "30" "1984" "0" "1984" "0" "c.1984dup" "r.(?)" "p.(Ala662Glyfs*104)" "14"
"0000124629" "00001847" "70" "3602" "0" "3602" "0" "c.3602T>G" "r.(?)" "p.(Leu1201Arg)" "24"
"0000124630" "00001847" "30" "2972" "0" "2972" "0" "c.2972G>T" "r.(?)" "p.(Gly991Val)" "20"
"0000124631" "00001847" "90" "4685" "0" "4685" "0" "c.4685T>C" "r.(?)" "p.(Ile1562Thr)" "33"
"0000124632" "00001847" "30" "3289" "0" "3289" "0" "c.3289A>T" "r.(?)" "p.(Arg1097*)" "22"
"0000124633" "00001847" "70" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000124634" "00001847" "30" "2510" "0" "2510" "0" "c.2510T>C" "r.(?)" "p.(Leu837Pro)" "16"
"0000124635" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000124636" "00001847" "30" "4352" "1" "4352" "1" "c.4352+1G>A" "r.spl" "p.?" "29i"
"0000124637" "00001847" "50" "2701" "0" "2701" "0" "c.2701A>G" "r.(?)" "p.(Thr901Ala)" "18"
"0000124638" "00001847" "50" "3602" "0" "3602" "0" "c.3602T>G" "r.(?)" "p.(Leu1201Arg)" "24"
"0000124639" "00001847" "50" "4283" "0" "4283" "0" "c.4283C>T" "r.(?)" "p.(Thr1428Met)" "29"
"0000124640" "00001847" "50" "466" "0" "466" "0" "c.466A>G" "r.(?)" "p.(Ile156Val)" "5"
"0000124641" "00001847" "50" "466" "0" "466" "0" "c.466A>G" "r.(?)" "p.(Ile156Val)" "5"
"0000124642" "00001847" "50" "4715" "0" "4715" "0" "c.4715C>T" "r.(?)" "p.(Thr1572Met)" "33"
"0000124643" "00001847" "70" "466" "0" "466" "0" "c.466A>G" "r.(?)" "p.(Ile156Val)" "5"
"0000124644" "00001847" "30" "5516" "0" "5516" "0" "c.5516T>C" "r.(?)" "p.(Phe1839Ser)" "39"
"0000124645" "00001847" "50" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000124646" "00001847" "50" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000124647" "00001847" "70" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.(?)" "38i"
"0000124648" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000124649" "00001847" "50" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000124650" "00001847" "70" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000124651" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000124652" "00001847" "50" "4926" "0" "4926" "0" "c.4926C>G" "r.(?)" "p.(Ser1642Arg)" "35"
"0000124653" "00001847" "70" "3364" "0" "3364" "0" "c.3364G>A" "r.(?)" "p.(Glu1122Lys)" "23"
"0000124654" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000124655" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000124656" "00001847" "50" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000124657" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.(?)" "6"
"0000124658" "00001847" "50" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000124659" "00001847" "50" "4537" "0" "4537" "0" "c.4537dup" "r.(?)" "p.(Gln1513Profs*42)" "30"
"0000124660" "00001847" "70" "1253" "0" "1253" "0" "c.1253T>C" "r.(?)" "p.(Phe418Ser)" "10"
"0000124661" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000124662" "00001847" "50" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000124663" "00001847" "90" "161" "0" "161" "0" "c.161G>A" "r.(?)" "p.(Cys54Tyr, ?)" "3"
"0000124664" "00001847" "70" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.(?)" "38i"
"0000124665" "00001847" "50" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000124666" "00001847" "50" "286" "0" "286" "0" "c.286A>C" "r.(?)" "p.(Asn96His)" "3"
"0000124667" "00001847" "90" "161" "0" "161" "0" "c.161G>A" "r.(?)" "p.(Cys54Tyr, ?)" "3"
"0000124668" "00001847" "90" "1317" "0" "1317" "0" "c.1317G>A" "r.(?)" "p.(Trp439*)" "10"
"0000124669" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000124670" "00001847" "50" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000124671" "00001847" "50" "4956" "0" "4956" "0" "c.4956T>G" "r.(?)" "p.(Tyr1652*)" "35"
"0000124672" "00001847" "50" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071Cysfs*14)" "22"
"0000124673" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000124674" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000124675" "00001847" "50" "6449" "0" "6449" "0" "c.6449G>A" "r.(?)" "p.(Cys2150Tyr)" "47"
"0000124676" "00001847" "50" "3056" "0" "3056" "0" "c.3056C>T" "r.(?)" "p.(Thr1019Met)" "21"
"0000124677" "00001847" "50" "3056" "0" "3056" "0" "c.3056C>T" "r.(?)" "p.(Thr1019Met)" "21"
"0000124678" "00001847" "50" "6449" "0" "6449" "0" "c.6449G>A" "r.(?)" "p.(Cys2150Tyr)" "47"
"0000124679" "00001847" "70" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.(?)" "38i"
"0000124680" "00001847" "50" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000124681" "00001847" "50" "3056" "0" "3056" "0" "c.3056C>T" "r.(?)" "p.(Thr1019Met)" "21"
"0000124682" "00001847" "50" "466" "0" "466" "0" "c.466A>G" "r.(?)" "p.(Ile156Val)" "5"
"0000124683" "00001847" "50" "3323" "0" "3323" "0" "c.3323G>A" "r.(?)" "p.(Arg1108His)" "22"
"0000124684" "00001847" "50" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000124685" "00001847" "70" "93" "0" "93" "0" "c.93G>A" "r.(?)" "p.(Trp31*)" "2"
"0000124686" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000124687" "00001847" "50" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000124688" "00001847" "70" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000124689" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000124690" "00001847" "70" "3259" "0" "3259" "0" "c.3259G>A" "r.(?)" "p.(Glu1087Lys)" "22"
"0000124691" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000124692" "00001847" "70" "2966" "0" "2966" "0" "c.2966T>C" "r.(?)" "p.(Val989Ala)" "20"
"0000124693" "00001847" "70" "6286" "0" "6286" "0" "c.6286G>A" "r.(?)" "p.(Glu2096Lys)" "46"
"0000124694" "00001847" "50" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" "31"
"0000124695" "00001847" "50" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000124696" "00001847" "50" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" "31"
"0000124697" "00001847" "30" "1957" "0" "1957" "0" "c.1957C>T" "r.(?)" "p.(Arg653Cys)" "14"
"0000124698" "00001847" "70" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000124699" "00001847" "50" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.(?)" "6"
"0000124700" "00001847" "50" "3323" "0" "3323" "0" "c.3323G>A" "r.(?)" "p.(Arg1108His)" "22"
"0000124701" "00001847" "70" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.(?)" "38i"
"0000124702" "00001847" "70" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" "35"
"0000124703" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000124704" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000124705" "00001847" "70" "618" "0" "619" "0" "c.618_619del" "r.(?)" "p.(Ser206Argfs*73)" "6"
"0000124706" "00001847" "90" "71" "0" "71" "0" "c.71G>A" "r.(?)" "p.(Arg24His)" "2"
"0000124707" "00001847" "70" "6658" "0" "6658" "0" "c.6658C>T" "r.(?)" "p.(Gln2220*)" "48"
"0000124708" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.(?)" "38i"
"0000124709" "00001847" "50" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.?" "40i"
"0000124710" "00001847" "50" "2239" "0" "2239" "0" "c.2239del" "r.(?)" "p.(Leu747Cysfs*40)" "15"
"0000124711" "00001847" "50" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(?)" "p.(?)" "38i"
"0000124712" "00001847" "70" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071Cysfs*14)" "22"
"0000124713" "00001847" "90" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" "31"
"0000124714" "00001847" "50" "223" "0" "223" "0" "c.223T>G" "r.(?)" "p.(Cys75Gly)" "3"
"0000124715" "00001847" "70" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.(?)" "6"
"0000124716" "00001847" "50" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000124717" "00001847" "50" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.(?)" "6"
"0000124718" "00001847" "70" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973*)" "43"
"0000124719" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000124720" "00001847" "90" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973*)" "43"
"0000124721" "00001847" "70" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973*)" "43"
"0000124722" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000124723" "00001847" "70" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973*)" "43"
"0000124724" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000124725" "00001847" "30" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.(?)" "6"
"0000124726" "00001847" "50" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000124727" "00001847" "50" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.(?)" "6"
"0000124728" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000124729" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000124730" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000124731" "00001847" "70" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" "35"
"0000124732" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000124733" "00001847" "70" "5212" "0" "5222" "0" "c.5212_5222del" "r.(?)" "p.(Ser1738Glyfs*45)" "37"
"0000124734" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000124735" "00001847" "70" "4666" "0" "4666" "0" "c.4666del" "r.(?)" "p.(Arg1556Glyfs*25)" "32"
"0000124736" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000124737" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000124738" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000124739" "00001847" "50" "5512" "0" "5512" "0" "c.5512C>G" "r.(?)" "p.(His1838Asp)" "39"
"0000124740" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000124741" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000124742" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000124743" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000124744" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000124745" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000124746" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000124747" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000124748" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000124749" "00001847" "70" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000124750" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000124751" "00001847" "70" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.(?)" "38i"
"0000124752" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000124753" "00001847" "70" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.(?)" "38i"
"0000124754" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000124755" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000124756" "00001847" "70" "6386" "2" "6386" "2" "c.6386+2C>G" "r.spl" "p.?" "46i"
"0000124757" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000124758" "00001847" "70" "4222" "0" "4222" "0" "c.4222T>C" "r.(?)" "p.(Trp1408Arg)" "28"
"0000124759" "00001847" "70" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" "35"
"0000124760" "00001847" "70" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.(?)" "38i"
"0000124761" "00001847" "50" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000124762" "00001847" "70" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.(?)" "38i"
"0000124763" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000124764" "00001847" "70" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.(?)" "38i"
"0000124765" "00001847" "50" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000124766" "00001847" "70" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.(?)" "38i"
"0000124767" "00001847" "50" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000124768" "00001847" "70" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.(?)" "38i"
"0000124769" "00001847" "50" "4919" "0" "4919" "0" "c.4919G>A" "r.(?)" "p.(Arg1640Gln)" "35"
"0000124770" "00001847" "70" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.(?)" "38i"
"0000124771" "00001847" "50" "1919" "0" "1919" "0" "c.1919C>T" "r.(?)" "p.(Pro640Leu)" "13"
"0000124772" "00001847" "70" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.(?)" "38i"
"0000124773" "00001847" "50" "2300" "0" "2300" "0" "c.2300T>A" "r.(?)" "p.(Val767Asp)" "15"
"0000124774" "00001847" "30" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(?)" "p.(?)" "38i"
"0000124775" "00001847" "50" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000124776" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.(?)" "38i"
"0000124777" "00001847" "50" "4773" "3" "4773" "3" "c.4773+3A>G" "r.spl?" "p.(?)" "33i"
"0000124778" "00001847" "70" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.(?)" "38i"
"0000124779" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000124780" "00001847" "50" "71" "0" "71" "0" "c.71G>A" "r.(?)" "p.(Arg24His)" "2"
"0000124781" "00001847" "90" "1819" "0" "1819" "0" "c.1819G>A" "r.(?)" "p.(Gly607Arg)" "13"
"0000124782" "00001847" "70" "2424" "0" "2424" "0" "c.2424C>G" "r.(?)" "p.(Tyr808*)" "16"
"0000124783" "00001847" "90" "1819" "0" "1819" "0" "c.1819G>A" "r.(?)" "p.(Gly607Arg)" "13"
"0000124784" "00001847" "70" "2424" "0" "2424" "0" "c.2424C>G" "r.(?)" "p.(Tyr808*)" "16"
"0000124785" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000124786" "00001847" "50" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000124787" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000124788" "00001847" "50" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000124789" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000124790" "00001847" "90" "5898" "1" "5898" "1" "c.5898+1G>A" "r.spl" "p.?" "42i"
"0000124791" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000124792" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000124793" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000124794" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000124795" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000124796" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000124797" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000124798" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000124799" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000124800" "00001847" "70" "2915" "0" "2915" "0" "c.2915C>A" "r.(?)" "p.(Thr972Asn)" "19"
"0000124801" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000124802" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000124803" "00001847" "50" "3754" "0" "3754" "0" "c.3754G>T" "r.(?)" "p.(Glu1252*)" "25"
"0000124804" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000124805" "00001847" "70" "6229" "0" "6229" "0" "c.6229C>T" "r.(?)" "p.(Arg2077Trp)" "45"
"0000124806" "00001847" "50" "3481" "0" "3481" "0" "c.3481C>A" "r.(?)" "p.(Arg1161Ser)" "23"
"0000124807" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000124808" "00001847" "70" "1908" "0" "1908" "0" "c.1908G>T" "r.(?)" "p.(Gln636His)" "13"
"0000124809" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000124810" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000124811" "00001847" "70" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" "35"
"0000124812" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000124813" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000124814" "00001847" "70" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" "35"
"0000124815" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000124816" "00001847" "50" "247" "0" "250" "0" "c.247_250dup" "r.(?)" "p.(Ser84Thrfs*16)" "3"
"0000124817" "00001847" "90" "161" "0" "161" "0" "c.161G>A" "r.(?)" "p.(Cys54Tyr, ?)" "3"
"0000124818" "00001847" "50" "4670" "0" "4670" "0" "c.4670A>G" "r.(?)" "p.(Tyr1557Cys)" "33"
"0000124819" "00001847" "50" "4670" "0" "4670" "0" "c.4670A>G" "r.(?)" "p.(Tyr1557Cys)" "33"
"0000124820" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000124821" "00001847" "70" "2552" "0" "2552" "0" "c.2552G>A" "r.(?)" "p.(Gly851Asp)" "16"
"0000124822" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000124823" "00001847" "70" "2552" "0" "2552" "0" "c.2552G>A" "r.(?)" "p.(Gly851Asp)" "16"
"0000124824" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000124825" "00001847" "70" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" "44"
"0000124826" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000124827" "00001847" "70" "4540" "-2" "4540" "-2" "c.4540-2A>G" "r.spl" "p.?" "30i"
"0000124828" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000124829" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000124830" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000124831" "00001847" "50" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" "35"
"0000124832" "00001847" "90" "5318" "0" "5318" "0" "c.5318C>T" "r.(?)" "p.(Ala1773Val)" "38"
"0000124833" "00001847" "70" "4773" "0" "4773" "0" "c.4773G>C" "r.(?)" "p.(=, ?)" "33"
"0000124834" "00001847" "70" "4457" "0" "4457" "0" "c.4457C>T" "r.(?)" "p.(Pro1486Leu)" "30"
"0000124835" "00001847" "70" "4793" "0" "4793" "0" "c.4793C>A" "r.(?)" "p.(Ala1598Asp)" "34"
"0000124836" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000124837" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000124838" "00001847" "50" "2560" "0" "2560" "0" "c.2560G>A" "r.(?)" "p.(Ala854Thr)" "16"
"0000124839" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000124840" "00001847" "70" "6449" "0" "6449" "0" "c.6449G>A" "r.(?)" "p.(Cys2150Tyr)" "47"
"0000124841" "00001847" "50" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000124842" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000124843" "00001847" "30" "2543" "0" "2543" "0" "c.2543C>A" "r.(?)" "p.(Ala848Asp)" "16"
"0000124844" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000124845" "00001847" "70" "3323" "0" "3323" "0" "c.3323G>A" "r.(?)" "p.(Arg1108His)" "22"
"0000124846" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000124847" "00001847" "70" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" "44"
"0000124848" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000124849" "00001847" "70" "3323" "0" "3323" "0" "c.3323G>A" "r.(?)" "p.(Arg1108His)" "22"
"0000124850" "00001847" "70" "2461" "0" "2461" "0" "c.2461T>A" "r.(?)" "p.(Trp821Arg)" "16"
"0000124851" "00001847" "70" "6449" "0" "6449" "0" "c.6449G>A" "r.(?)" "p.(Cys2150Tyr)" "47"
"0000124852" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000124853" "00001847" "70" "3385" "0" "3385" "0" "c.3385C>T" "r.(?)" "p.(Arg1129Cys)" "23"
"0000124854" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000124855" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000124856" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000124857" "00001847" "50" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" "35"
"0000124858" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000124859" "00001847" "70" "4234" "0" "4234" "0" "c.4234C>T" "r.(?)" "p.(Gln1412*)" "28"
"0000124860" "00001847" "70" "4253" "4" "4253" "4" "c.4253+4C>T" "r.spl?" "p.(?)" "28i"
"0000124861" "00001847" "50" "4539" "2064" "4539" "2064" "c.4539+2064C>T" "r.(?)" "p.(?)" "30i"
"0000124862" "00001847" "50" "5461" "-1389" "5461" "-1389" "c.5461-1389C>A" "r.(=)" "p.(=)" "38i"
"0000124863" "00001847" "70" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000124864" "00001847" "50" "4539" "2064" "4539" "2064" "c.4539+2064C>T" "r.(?)" "p.(?)" "30i"
"0000124865" "00001847" "70" "5461" "-1389" "5461" "-1389" "c.5461-1389C>A" "r.(=)" "p.(=)" "38i"
"0000124866" "00001847" "70" "4457" "0" "4457" "0" "c.4457C>T" "r.(?)" "p.(Pro1486Leu)" "30"
"0000124867" "00001847" "50" "4539" "2064" "4539" "2064" "c.4539+2064C>T" "r.(?)" "p.(?)" "30i"
"0000124868" "00001847" "70" "5461" "-1389" "5461" "-1389" "c.5461-1389C>A" "r.(=)" "p.(=)" "38i"
"0000124869" "00001847" "90" "5196" "1056" "5196" "1056" "c.5196+1056A>G" "r.spl?" "p.(?)" "36i"
"0000124870" "00001847" "70" "3056" "0" "3056" "0" "c.3056C>T" "r.(?)" "p.(Thr1019Met)" "21"
"0000124871" "00001847" "90" "859" "-9" "859" "-9" "c.859-9T>C" "r.(?)" "p.(?)" "7i"
"0000124872" "00001847" "50" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973*)" "43"
"0000124873" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000124874" "00001847" "70" "1938" "-619" "1938" "-619" "c.1938-619A>G" "r.(?)" "p.(?)" "13i"
"0000124875" "00001847" "70" "286" "0" "286" "0" "c.286A>G" "r.(?)" "p.(Asn96Asp)" "3"
"0000124876" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000124877" "00001847" "70" "286" "0" "286" "0" "c.286A>G" "r.(?)" "p.(Asn96Asp)" "3"
"0000124878" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000124879" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000124880" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000124881" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000124882" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000124883" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000124884" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000124885" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000124886" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000124887" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000124888" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000124889" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000124890" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000124891" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000124892" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000124893" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000124894" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000124895" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000124896" "00001847" "70" "6448" "0" "6448" "0" "c.6448T>C" "r.(?)" "p.(Cys2150Arg)" "47"
"0000124897" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000124898" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000124899" "00001847" "70" "5318" "0" "5318" "0" "c.5318C>T" "r.(?)" "p.(Ala1773Val)" "38"
"0000124900" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000124901" "00001847" "70" "5196" "1056" "5196" "1056" "c.5196+1056A>G" "r.spl?" "p.(?)" "36i"
"0000124902" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000124903" "00001847" "70" "2461" "0" "2461" "0" "c.2461T>A" "r.(?)" "p.(Trp821Arg)" "16"
"0000124904" "00001847" "70" "6449" "0" "6449" "0" "c.6449G>A" "r.(?)" "p.(Cys2150Tyr)" "47"
"0000124905" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000124906" "00001847" "70" "6229" "0" "6229" "0" "c.6229C>T" "r.(?)" "p.(Arg2077Trp)" "45"
"0000124907" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000124908" "00001847" "70" "4328" "0" "4328" "0" "c.4328G>A" "r.(?)" "p.(Arg1443His)" "29"
"0000124909" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000124910" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000124911" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000124912" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000124913" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000124914" "00001847" "70" "4594" "0" "4594" "0" "c.4594G>A" "r.(?)" "p.(Asp1532Asn)" "31"
"0000124915" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000124916" "00001847" "70" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000124917" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000124918" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000124919" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000124920" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000124921" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000124922" "00001847" "70" "1988" "0" "1988" "0" "c.1988G>A" "r.(?)" "p.(Trp663*)" "14"
"0000124923" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000124924" "00001847" "70" "5018" "2" "5018" "2" "c.5018+2T>C" "r.spl?" "p.(?)" "35i"
"0000124925" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000124926" "00001847" "70" "2947" "0" "2947" "0" "c.2947A>G" "r.(?)" "p.(Thr983Ala)" "20"
"0000124927" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000124928" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000124929" "00001847" "70" "6729" "5" "6729" "19" "c.6729+5_6729+19del" "r.spl?" "p.(?)" "48i"
"0000124930" "00001847" "70" "45" "0" "45" "0" "c.45G>A" "r.(?)" "p.(Trp15*)" "1"
"0000124931" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000124932" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000124933" "00001847" "70" "6449" "0" "6449" "0" "c.6449G>A" "r.(?)" "p.(Cys2150Tyr)" "47"
"0000124934" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000124935" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000124936" "00001847" "70" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.0?" "1"
"0000124937" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000124938" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000124939" "00001847" "70" "5318" "0" "5318" "0" "c.5318C>T" "r.(?)" "p.(Ala1773Val)" "38"
"0000124940" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000124941" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000124942" "00001847" "70" "2160" "584" "2160" "584" "c.2160+584A>G" "r.(?)" "p.(?)" "14i"
"0000124943" "00001847" "70" "3050" "5" "3050" "5" "c.3050+5G>A" "r.spl" "p.?" "20i"
"0000124944" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000124945" "00001847" "70" "1100" "-1" "1100" "-1" "c.1100-1G>A" "r.spl" "p.?" "8i"
"0000124946" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000124947" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000124948" "00001847" "70" "6342" "0" "6342" "0" "c.6342G>A" "r.(?)" "p.(=)" "46"
"0000124949" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000124950" "00001847" "70" "3758" "0" "3758" "0" "c.3758C>T" "r.(?)" "p.(Thr1253Met)" "25"
"0000124951" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000124952" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000124953" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000124954" "00001847" "70" "4539" "1" "4539" "1" "c.4539+1G>T" "r.spl" "p.?" "30i"
"0000124955" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000124956" "00001847" "70" "4216" "0" "4216" "0" "c.4216C>T" "r.(?)" "p.(His1406Tyr)" "28"
"0000124957" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000124958" "00001847" "70" "3007" "0" "3007" "0" "c.3007C>T" "r.(?)" "p.(Gln1003*)" "20"
"0000124959" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000124960" "00001847" "70" "3758" "0" "3758" "0" "c.3758C>T" "r.(?)" "p.(Thr1253Met)" "25"
"0000124961" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000124962" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000124963" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000124964" "00001847" "70" "5018" "2" "5018" "2" "c.5018+2T>C" "r.spl?" "p.(?)" "35i"
"0000124965" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000124966" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000124967" "00001847" "70" "3758" "0" "3758" "0" "c.3758C>T" "r.(?)" "p.(Thr1253Met)" "25"
"0000124968" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000124969" "00001847" "70" "1293" "0" "1293" "0" "c.1293G>A" "r.(?)" "p.(Trp431*)" "10"
"0000124970" "00001847" "90" "4539" "2001" "4539" "2001" "c.4539+2001G>A" "r.(?)" "p.(?)" "30i"
"0000124971" "00001847" "70" "4537" "0" "4537" "0" "c.4537dup" "r.(?)" "p.(Gln1513Profs*42)" "30"
"0000124972" "00001847" "90" "4539" "2001" "4539" "2001" "c.4539+2001G>A" "r.(?)" "p.(?)" "30i"
"0000124973" "00001847" "70" "4253" "5" "4253" "5" "c.4253+5G>A" "r.spl" "p.?" "28i"
"0000124974" "00001847" "50" "4539" "2001" "4539" "2001" "c.4539+2001G>A" "r.(?)" "p.(?)" "30i"
"0000124975" "00001847" "70" "5161" "0" "5162" "0" "c.5161_5162del" "r.(?)" "p.(Thr1721Hisfs*65)" "36"
"0000124976" "00001847" "90" "4539" "2001" "4539" "2001" "c.4539+2001G>A" "r.(?)" "p.(?)" "30i"
"0000124977" "00001847" "70" "6545" "0" "6580" "0" "c.6545_6580del" "r.(?)" "p.(Leu2182_Phe2193del)" "48"
"0000124978" "00001847" "70" "4539" "2001" "4539" "2001" "c.4539+2001G>A" "r.(?)" "p.(?)" "30i"
"0000124979" "00001847" "70" "5018" "2" "5018" "2" "c.5018+2T>C" "r.spl?" "p.(?)" "35i"
"0000124980" "00001847" "90" "4539" "2001" "4539" "2001" "c.4539+2001G>A" "r.(?)" "p.(?)" "30i"
"0000124981" "00001847" "70" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.(?)" "6"
"0000124982" "00001847" "50" "4539" "2001" "4539" "2001" "c.4539+2001G>A" "r.(?)" "p.(?)" "30i"
"0000124983" "00001847" "70" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.(?)" "38i"
"0000124984" "00001847" "50" "4539" "2001" "4539" "2001" "c.4539+2001G>A" "r.(?)" "p.(?)" "30i"
"0000124985" "00001847" "70" "4253" "5" "4253" "5" "c.4253+5G>A" "r.spl" "p.?" "28i"
"0000124986" "00001847" "50" "4539" "2001" "4539" "2001" "c.4539+2001G>A" "r.(?)" "p.(?)" "30i"
"0000124987" "00001847" "70" "71" "0" "71" "0" "c.71G>A" "r.(?)" "p.(Arg24His)" "2"
"0000124988" "00001847" "70" "4539" "2001" "4539" "2001" "c.4539+2001G>A" "r.(?)" "p.(?)" "30i"
"0000124989" "00001847" "70" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" "35"
"0000124990" "00001847" "70" "4539" "2001" "4539" "2001" "c.4539+2001G>A" "r.(?)" "p.(?)" "30i"
"0000124991" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000124992" "00001847" "70" "4539" "2001" "4539" "2001" "c.4539+2001G>A" "r.(?)" "p.(?)" "30i"
"0000124993" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000124994" "00001847" "70" "4539" "2001" "4539" "2001" "c.4539+2001G>A" "r.(?)" "p.(?)" "30i"
"0000124995" "00001847" "70" "6098" "0" "6098" "0" "c.6098T>G" "r.(?)" "p.(Leu2033Arg)" "44"
"0000124996" "00001847" "70" "4539" "2001" "4539" "2001" "c.4539+2001G>A" "r.(?)" "p.(?)" "30i"
"0000124997" "00001847" "90" "6098" "0" "6098" "0" "c.6098T>G" "r.(?)" "p.(Leu2033Arg)" "44"
"0000124998" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000124999" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000125000" "00001847" "90" "4539" "2001" "4539" "2001" "c.4539+2001G>A" "r.(?)" "p.(?)" "30i"
"0000125001" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000125002" "00001847" "90" "4539" "2001" "4539" "2001" "c.4539+2001G>A" "r.(?)" "p.(?)" "30i"
"0000125003" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000125004" "00001847" "90" "4539" "2001" "4539" "2001" "c.4539+2001G>A" "r.(?)" "p.(?)" "30i"
"0000125005" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000125006" "00001847" "90" "4539" "2001" "4539" "2001" "c.4539+2001G>A" "r.(?)" "p.(?)" "30i"
"0000125007" "00001847" "50" "4539" "2001" "4539" "2001" "c.4539+2001G>A" "r.(?)" "p.(?)" "30i"
"0000125008" "00001847" "50" "4539" "2001" "4539" "2001" "c.4539+2001G>A" "r.(?)" "p.(?)" "30i"
"0000125009" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000125010" "00001847" "50" "2041" "0" "2041" "0" "c.2041C>T" "r.(?)" "p.(Arg681*)" "14"
"0000125011" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000125012" "00001847" "50" "967" "0" "967" "0" "c.967del" "r.(?)" "p.(Leu323Cysfs*51)" "8"
"0000125013" "00001847" "50" "4771" "0" "4771" "0" "c.4771G>A" "r.(?)" "p.(Gly1591Arg)" "33"
"0000125014" "00001847" "50" "2300" "0" "2300" "0" "c.2300T>A" "r.(?)" "p.(Val767Asp)" "15"
"0000125015" "00001847" "50" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000125016" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000125017" "00001847" "50" "740" "0" "740" "0" "c.740A>G" "r.(?)" "p.(Asn247Ser)" "6"
"0000125018" "00001847" "50" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(?)" "p.(?)" "38i"
"0000125019" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000125020" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000125021" "00001847" "50" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000125022" "00001847" "50" "5908" "0" "5908" "0" "c.5908C>T" "r.(?)" "p.(Leu1970Phe)" "43"
"0000125023" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000125024" "00001847" "50" "5693" "0" "5693" "0" "c.5693G>A" "r.(?)" "p.(Arg1898His)" "40"
"0000125025" "00001847" "50" "4610" "0" "4610" "0" "c.4610C>T" "r.(?)" "p.(Thr1537Met)" "31"
"0000125026" "00001847" "50" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000125027" "00001847" "90" "1819" "0" "1819" "0" "c.1819G>A" "r.(?)" "p.(Gly607Arg)" "13"
"0000125028" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000125029" "00001847" "50" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.?" "40i"
"0000125030" "00001847" "50" "194" "0" "194" "0" "c.194G>A" "r.(?)" "p.(Gly65Glu)" "3"
"0000125031" "00001847" "50" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(?)" "p.(?)" "38i"
"0000125032" "00001847" "50" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" "44"
"0000125033" "00001847" "50" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(?)" "p.(?)" "38i"
"0000125034" "00001847" "50" "3608" "0" "3608" "0" "c.3608G>A" "r.(?)" "p.(Gly1203Glu)" "25"
"0000125035" "00001847" "50" "6148" "0" "6148" "0" "c.6148G>C" "r.(?)" "p.(Val2050Leu)" "45"
"0000125036" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000125037" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000125038" "00001847" "50" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000125039" "00001847" "70" "1319" "0" "1319" "0" "c.1319A>G" "r.(?)" "p.(Tyr440Cys)" "10"
"0000125040" "00001847" "50" "3050" "1" "3050" "1" "c.3050+1G>C" "r.spl" "p.?" "20i"
"0000125041" "00001847" "50" "6529" "0" "6529" "0" "c.6529G>A" "r.(?)" "p.(Asp2177Asn)" "48"
"0000125042" "00001847" "50" "1928" "0" "1928" "0" "c.1928T>G" "r.(?)" "p.(Val643Gly)" "13"
"0000125043" "00001847" "50" "2510" "0" "2510" "0" "c.2510del" "r.(?)" "p.(Leu837Argfs*6)" "16"
"0000125044" "00001847" "50" "3434" "0" "3434" "0" "c.3434T>A" "r.(?)" "p.(Leu1145His)" "23"
"0000125045" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000125046" "00001847" "50" "5908" "0" "5908" "0" "c.5908C>T" "r.(?)" "p.(Leu1970Phe)" "43"
"0000125047" "00001847" "50" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071Cysfs*14)" "22"
"0000125048" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000125049" "00001847" "50" "6386" "2" "6386" "2" "c.6386+2C>G" "r.spl" "p.?" "46i"
"0000125050" "00001847" "50" "1654" "0" "1654" "0" "c.1654G>A" "r.(?)" "p.(Val552Ile)" "12"
"0000125051" "00001847" "50" "1363" "0" "1363" "0" "c.1363C>A" "r.(?)" "p.(Leu455Met)" "11"
"0000125052" "00001847" "50" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.?" "40i"
"0000125053" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.[(Gly863Ala, Gly863del)]" "17"
"0000125054" "00001847" "50" "656" "0" "656" "0" "c.656G>C" "r.(?)" "p.(Arg219Thr)" "6"
"0000125055" "00001847" "90" "1822" "0" "1822" "0" "c.1822T>A" "r.(?)" "p.(Phe608Ile)" "13"
"0000125056" "00001847" "50" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(?)" "p.(?)" "38i"
"0000125057" "00001847" "50" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(?)" "p.(?)" "38i"
"0000125058" "00001847" "50" "2947" "0" "2947" "0" "c.2947A>G" "r.(?)" "p.(Thr983Ala)" "20"
"0000125059" "00001847" "70" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.(?)" "38i"
"0000125060" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.(?)" "6"
"0000125061" "00001847" "50" "443" "-1" "570" "1" "c.(442+1_443-1)_(570+1_571-1)del" "r.(?)" "p.(Gly148Valfs*89)" "4i_5i"
"0000125062" "00001847" "50" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.(?)" "6"
"0000125063" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.(?)" "38i"
"0000125064" "00001847" "50" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.?" "40i"
"0000125065" "00001847" "90" "4462" "0" "4462" "0" "c.4462T>C" "r.(?)" "p.(Cys1488Arg)" "30"
"0000125066" "00001847" "70" "2919" "-1" "3328" "1" "c.(2918+1_2919-1)_(3328+1_3329-1)del" "r.(?)" "p.(Ser974Glnfs*64)" "19i_22i"
"0000125067" "00001847" "50" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.(?)" "6"
"0000125068" "00001847" "50" "3813" "0" "3813" "0" "c.3813G>C" "r.(?)" "p.(Glu1271Asp, ?)" "25"
"0000125069" "00001847" "50" "6411" "0" "6411" "0" "c.6411T>A" "r.(?)" "p.(Cys2137*)" "47"
"0000125070" "00001847" "50" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.(?)" "6"
"0000125071" "00001847" "50" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(?)" "p.(?)" "38i"
"0000125072" "00001847" "70" "3874" "0" "3874" "0" "c.3874C>T" "r.(?)" "p.(Gln1292*)" "27"
"0000125073" "00001847" "90" "6545" "0" "6580" "0" "c.6545_6580del" "r.(?)" "p.(Leu2182_Phe2193del)" "48"
"0000125074" "00001847" "50" "4539" "1" "4539" "1" "c.4539+1G>T" "r.spl" "p.?" "30i"
"0000125075" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.(?)" "6"
"0000125076" "00001847" "50" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.(?)" "6"
"0000125077" "00001847" "50" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(?)" "p.(?)" "38i"
"0000125078" "00001847" "50" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.(?)" "6"
"0000125079" "00001847" "50" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(?)" "p.(?)" "38i"
"0000125080" "00001847" "70" "5161" "0" "5162" "0" "c.5161_5162del" "r.(?)" "p.(Thr1721Hisfs*65)" "36"
"0000125081" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000125082" "00001847" "90" "2947" "0" "2947" "0" "c.2947A>G" "r.(?)" "p.(Thr983Ala)" "20"
"0000125083" "00001847" "70" "4506" "0" "4506" "0" "c.4506C>A" "r.(?)" "p.(Cys1502*)" "30"
"0000125084" "00001847" "50" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.(?)" "6"
"0000125085" "00001847" "50" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(?)" "p.(?)" "38i"
"0000125086" "00001847" "30" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(?)" "p.(?)" "38i"
"0000125087" "00001847" "50" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000125088" "00001847" "50" "214" "0" "214" "0" "c.214G>A" "r.(?)" "p.(Gly72Arg)" "3"
"0000125089" "00001847" "70" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.(?)" "38i"
"0000125090" "00001847" "90" "5762" "0" "5763" "0" "c.5762_5763dup" "r.(?)" "p.(Ala1922Trpfs*18)" "41"
"0000125091" "00001847" "90" "2919" "-1" "3328" "1" "c.(2918+1_2919-1)_(3328+1_3329-1)del" "r.(?)" "p.(Ser974Glnfs*64)" "19i_22i"
"0000125092" "00001847" "50" "455" "0" "455" "0" "c.455G>A" "r.(?)" "p.(Arg152Gln)" "5"
"0000125093" "00001847" "30" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(?)" "p.(?)" "38i"
"0000125094" "00001847" "50" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(?)" "p.(?)" "38i"
"0000125095" "00001847" "50" "5585" "-10" "5585" "-10" "c.5585-10T>C" "r.(?)" "p.(?)" "39i"
"0000125096" "00001847" "70" "5312" "1" "5312" "1" "c.5312+1G>A" "r.spl" "p.?" "37i"
"0000125097" "00001847" "90" "286" "0" "286" "0" "c.286A>G" "r.(?)" "p.(Asn96Asp)" "3"
"0000125098" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000125099" "00001847" "90" "4539" "1" "4539" "1" "c.4539+1G>T" "r.spl" "p.?" "30i"
"0000125100" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000125101" "00001847" "90" "4539" "1" "4539" "1" "c.4539+1G>T" "r.spl" "p.?" "30i"
"0000125102" "00001847" "70" "1957" "0" "1957" "0" "c.1957C>T" "r.(?)" "p.(Arg653Cys)" "14"
"0000125103" "00001847" "70" "3449" "0" "3449" "0" "c.3449G>A" "r.(?)" "p.(Cys1150Tyr)" "23"
"0000125104" "00001847" "70" "5585" "-10" "5585" "-10" "c.5585-10T>C" "r.(?)" "p.(?)" "39i"
"0000125105" "00001847" "50" "5537" "0" "5537" "0" "c.5537T>C" "r.(?)" "p.(Ile1846Thr)" "39"
"0000125106" "00001847" "50" "818" "0" "818" "0" "c.818G>A" "r.(?)" "p.(Trp273*)" "7"
"0000125107" "00001847" "70" "4224" "0" "4224" "0" "c.4224G>T" "r.(?)" "p.(Trp1408Cys)" "28"
"0000125108" "00001847" "50" "872" "0" "872" "0" "c.872C>T" "r.(?)" "p.(Pro291Leu)" "8"
"0000125109" "00001847" "70" "2947" "0" "2947" "0" "c.2947A>G" "r.(?)" "p.(Thr983Ala)" "20"
"0000125110" "00001847" "70" "1822" "0" "1822" "0" "c.1822T>A" "r.(?)" "p.(Phe608Ile)" "13"
"0000125111" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000125112" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000125113" "00001847" "70" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.(?)" "6"
"0000125114" "00001847" "50" "1822" "0" "1822" "0" "c.1822T>A" "r.(?)" "p.(Phe608Ile)" "13"
"0000125115" "00001847" "50" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.(?)" "6"
"0000125116" "00001847" "50" "5585" "-10" "5585" "-10" "c.5585-10T>C" "r.(?)" "p.(?)" "39i"
"0000125117" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000125118" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000125119" "00001847" "50" "3335" "0" "3335" "0" "c.3335C>A" "r.(?)" "p.(Thr1112Asn)" "23"
"0000125120" "00001847" "70" "5585" "-10" "5585" "-10" "c.5585-10T>C" "r.(?)" "p.(?)" "39i"
"0000125121" "00001847" "50" "1822" "0" "1822" "0" "c.1822T>A" "r.(?)" "p.(Phe608Ile)" "13"
"0000125122" "00001847" "70" "5585" "-10" "5585" "-10" "c.5585-10T>C" "r.(?)" "p.(?)" "39i"
"0000125123" "00001847" "70" "122" "0" "122" "0" "c.122G>A" "r.(?)" "p.(Trp41*)" "2"
"0000125124" "00001847" "90" "286" "0" "286" "0" "c.286A>G" "r.(?)" "p.(Asn96Asp)" "3"
"0000125125" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000125126" "00001847" "70" "286" "0" "286" "0" "c.286A>G" "r.(?)" "p.(Asn96Asp)" "3"
"0000125127" "00001847" "50" "4773" "1" "4773" "1" "c.4773+1G>A" "r.spl" "p.?" "33i"
"0000125128" "00001847" "90" "5585" "-10" "5585" "-10" "c.5585-10T>C" "r.(?)" "p.(?)" "39i"
"0000125129" "00001847" "70" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.(?)" "6"
"0000125130" "00001847" "50" "5113" "0" "5113" "0" "c.5113C>T" "r.(?)" "p.(Arg1705Trp)" "36"
"0000125131" "00001847" "70" "6383" "0" "6383" "0" "c.6383A>G" "r.(?)" "p.(His2128Arg)" "46"
"0000125132" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000125133" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000125134" "00001847" "70" "2461" "0" "2461" "0" "c.2461T>A" "r.(?)" "p.(Trp821Arg)" "16"
"0000125135" "00001847" "90" "4256" "0" "4256" "0" "c.4256T>C" "r.(?)" "p.(Met1419Thr)" "28i"
"0000125136" "00001847" "30" "1995" "0" "1995" "0" "c.1995C>A" "r.(?)" "p.(Tyr655*)" "14"
"0000125137" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000125138" "00001847" "70" "286" "0" "286" "0" "c.286A>C" "r.(?)" "p.(Asn96His)" "3"
"0000125139" "00001847" "70" "6095" "0" "6095" "0" "c.6095A>G" "r.(?)" "p.(His2032Arg)" "44"
"0000125140" "00001847" "70" "5692" "0" "5692" "0" "c.5692C>T" "r.(?)" "p.(Arg1898Cys)" "40"
"0000125141" "00001847" "90" "167" "0" "167" "0" "c.167T>C" "r.(?)" "p.(Phe56Ser)" "3"
"0000125142" "00001847" "70" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.(?)" "p.(?)" "36i"
"0000125143" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000125144" "00001847" "70" "3065" "0" "3065" "0" "c.3065A>G" "r.(?)" "p.(Glu1022Gly)" "21"
"0000125145" "00001847" "70" "2609" "0" "2609" "0" "c.2609C>T" "r.(?)" "p.(Pro870Leu)" "17"
"0000125146" "00001847" "70" "2034" "0" "2034" "0" "c.2034G>T" "r.(?)" "p.(Lys678Asn)" "14"
"0000125147" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000125148" "00001847" "30" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000125149" "00001847" "70" "3758" "0" "3758" "0" "c.3758C>T" "r.(?)" "p.(Thr1253Met)" "25"
"0000125150" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000125151" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000125152" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000125153" "00001847" "70" "3758" "0" "3758" "0" "c.3758C>T" "r.(?)" "p.(Thr1253Met)" "25"
"0000125154" "00001847" "70" "5692" "0" "5692" "0" "c.5692C>T" "r.(?)" "p.(Arg1898Cys)" "40"
"0000125155" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000125156" "00001847" "90" "1834" "0" "1834" "0" "c.1834C>T" "r.(?)" "p.(Gln612*)" "13"
"0000125157" "00001847" "90" "2587" "2" "2587" "2" "c.2587+2T>C" "r.spl?" "p.(?)" "16i"
"0000125158" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000125159" "00001847" "70" "5512" "0" "5512" "0" "c.5512C>G" "r.(?)" "p.(His1838Asp)" "39"
"0000125160" "00001847" "70" "6389" "0" "6389" "0" "c.6389T>C" "r.(?)" "p.(Met2130Thr)" "47"
"0000125161" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000125162" "00001847" "70" "2128" "0" "2128" "0" "c.2128A>G" "r.(?)" "p.(Met710Val)" "14"
"0000125163" "00001847" "70" "1819" "0" "1819" "0" "c.1819G>C" "r.(?)" "p.(Gly607Arg)" "13"
"0000125164" "00001847" "70" "6287" "0" "6287" "0" "c.6287A>G" "r.(?)" "p.(Glu2096Gly)" "46"
"0000125165" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000125166" "00001847" "70" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000125167" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000125168" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000125169" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000125170" "00001847" "30" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000125171" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000125172" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000125173" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000125174" "00001847" "70" "4919" "0" "4919" "0" "c.4919G>A" "r.(?)" "p.(Arg1640Gln)" "35"
"0000125175" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000125176" "00001847" "70" "4919" "0" "4919" "0" "c.4919G>A" "r.(?)" "p.(Arg1640Gln)" "35"
"0000125177" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000125178" "00001847" "70" "4594" "0" "4594" "0" "c.4594G>A" "r.(?)" "p.(Asp1532Asn)" "31"
"0000125179" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000125180" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000125181" "00001847" "70" "5822" "0" "5822" "0" "c.5822A>C" "r.(?)" "p.(His1941Pro)" "41"
"0000125182" "00001847" "70" "6287" "0" "6287" "0" "c.6287A>G" "r.(?)" "p.(Glu2096Gly)" "46"
"0000125183" "00001847" "70" "3758" "0" "3758" "0" "c.3758C>T" "r.(?)" "p.(Thr1253Met)" "25"
"0000125184" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000125185" "00001847" "90" "3608" "0" "3608" "0" "c.3608G>A" "r.(?)" "p.(Gly1203Glu)" "25"
"0000125186" "00001847" "90" "4538" "0" "4539" "0" "c.4538_4539insC" "r.(?)" "p.(Gln1513Hisfs*42)" "30"
"0000125187" "00001847" "90" "6282" "1" "6282" "1" "c.6282+1G>C" "r.spl" "p.?" "45i"
"0000125188" "00001847" "90" "1035" "0" "1035" "0" "c.1035T>G" "r.(?)" "p.(Tyr345*)" "8"
"0000125189" "00001847" "70" "1819" "0" "1819" "0" "c.1819G>A" "r.(?)" "p.(Gly607Arg)" "13"
"0000125190" "00001847" "90" "6816" "1" "6816" "1" "c.6816+1G>A" "r.spl" "p.?" "49i"
"0000125191" "00001847" "90" "5196" "1" "5196" "1" "c.5196+1G>A" "r.spl" "p.?" "36i"
"0000125192" "00001847" "70" "6098" "0" "6098" "0" "c.6098T>C" "r.(?)" "p.(Leu2033Pro)" "44"
"0000125193" "00001847" "70" "70" "0" "70" "0" "c.70C>T" "r.(?)" "p.(Arg24Cys)" "2"
"0000125194" "00001847" "90" "6119" "0" "6119" "0" "c.6119G>A" "r.(?)" "p.(Arg2040Gln)" "44"
"0000125195" "00001847" "70" "5776" "0" "5776" "0" "c.5776C>T" "r.(?)" "p.(Gln1926*)" "41"
"0000125196" "00001847" "70" "6563" "0" "6563" "0" "c.6563T>C" "r.(?)" "p.(Phe2188Ser)" "48"
"0000125197" "00001847" "70" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000125198" "00001847" "90" "3871" "0" "3871" "0" "c.3871C>T" "r.(?)" "p.(Gln1291*)" "27"
"0000125199" "00001847" "90" "6196" "0" "6196" "0" "c.6196del" "r.(?)" "p.(Cys2066Alafs*49)" "45"
"0000125200" "00001847" "70" "2948" "0" "2948" "0" "c.2948C>T" "r.(?)" "p.(Thr983Ile)" "20"
"0000125201" "00001847" "70" "3364" "0" "3364" "0" "c.3364G>A" "r.(?)" "p.(Glu1122Lys)" "23"
"0000125202" "00001847" "90" "6289" "0" "6289" "0" "c.6289C>T" "r.(?)" "p.(Pro2097Ser)" "46"
"0000125203" "00001847" "70" "4605" "0" "4606" "0" "c.4605_4606insT" "r.(?)" "p.(Lys1536*)" "31"
"0000125204" "00001847" "90" "6563" "0" "6563" "0" "c.6563T>C" "r.(?)" "p.(Phe2188Ser)" "48"
"0000125205" "00001847" "70" "885" "0" "885" "0" "c.885del" "r.(?)" "p.(Leu296Cysfs*4)" "8"
"0000125206" "00001847" "70" "1958" "0" "1958" "0" "c.1958G>A" "r.(?)" "p.(Arg653His)" "14"
"0000125207" "00001847" "70" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000125208" "00001847" "70" "2437" "0" "2437" "0" "c.2437G>A" "r.(?)" "p.(Glu813Lys)" "16"
"0000125209" "00001847" "90" "6287" "0" "6287" "0" "c.6287A>T" "r.(?)" "p.(Glu2096Val)" "46"
"0000125210" "00001847" "70" "3812" "0" "3812" "0" "c.3812del" "r.(?)" "p.(Glu1271Glyfs*4)" "25"
"0000125211" "00001847" "90" "2424" "0" "2424" "0" "c.2424C>G" "r.(?)" "p.(Tyr808*)" "16"
"0000125212" "00001847" "90" "5302" "0" "5303" "0" "c.5302_5303del" "r.(?)" "p.(Leu1768Alafs*18)" "37"
"0000125213" "00001847" "90" "1561" "0" "1561" "0" "c.1561del" "r.(?)" "p.(Val521Serfs*47)" "12"
"0000125214" "00001847" "70" "2424" "0" "2424" "0" "c.2424C>G" "r.(?)" "p.(Tyr808*)" "16"
"0000125215" "00001847" "90" "3071" "0" "3071" "0" "c.3071T>C" "r.(?)" "p.(Met1024Thr)" "21"
"0000125216" "00001847" "70" "6389" "0" "6389" "0" "c.6389T>A" "r.(?)" "p.(Met2130Lys)" "47"
"0000125217" "00001847" "70" "3194" "0" "3194" "0" "c.3194G>T" "r.(?)" "p.(Gly1065Val)" "22"
"0000125218" "00001847" "70" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000125219" "00001847" "70" "6190" "0" "6190" "0" "c.6190G>A" "r.(?)" "p.(Ala2064Thr)" "45"
"0000125220" "00001847" "90" "983" "0" "983" "0" "c.983A>T" "r.(?)" "p.(Glu328Val)" "8"
"0000125221" "00001847" "70" "517" "0" "517" "0" "c.517del" "r.(?)" "p.(Leu173Cysfs*9)" "5"
"0000125222" "00001847" "70" "4234" "0" "4234" "0" "c.4234C>T" "r.(?)" "p.(Gln1412*)" "28"
"0000125223" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000125224" "00001847" "50" "1988" "0" "1988" "0" "c.1988G>A" "r.(?)" "p.(Trp663*)" "14"
"0000125225" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000125226" "00001847" "70" "6148" "0" "6148" "0" "c.6148G>C" "r.(?)" "p.(Val2050Leu)" "45"
"0000125227" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000125228" "00001847" "70" "6148" "0" "6148" "0" "c.6148G>C" "r.(?)" "p.(Val2050Leu)" "45"
"0000125229" "00001847" "50" "6148" "0" "6148" "0" "c.6148G>C" "r.(?)" "p.(Val2050Leu)" "45"
"0000125230" "00001847" "70" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" "35"
"0000125231" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000125232" "00001847" "70" "570" "1" "570" "1" "c.570+1G>A" "r.spl" "p.?" "5i"
"0000125233" "00001847" "90" "514" "0" "514" "0" "c.514G>A" "r.(?)" "p.(Gly172Ser)" "5"
"0000125234" "00001847" "70" "2912" "0" "2912" "0" "c.2912C>A" "r.(?)" "p.(Thr971Asn)" "19"
"0000125235" "00001847" "70" "2616" "0" "2616" "0" "c.2616C>G" "r.(?)" "p.(Tyr872*)" "17"
"0000125236" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000125237" "00001847" "90" "6445" "0" "6445" "0" "c.6445C>T" "r.(?)" "p.(Arg2149*)" "47"
"0000125238" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000125239" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000125240" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000125241" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000125242" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000125243" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000125244" "00001847" "50" "4249" "0" "4251" "0" "c.4249_4251del" "r.(?)" "p.(Phe1417del)" "28"
"0000125245" "00001847" "50" "2069" "0" "2069" "0" "c.2069del" "r.(?)" "p.(Gly690Valfs*6)" "14"
"0000125246" "00001847" "50" "571" "-1" "571" "-1" "c.571-1G>T" "r.spl" "p.?" "5i"
"0000125247" "00001847" "50" "247" "0" "250" "0" "c.247_250dup" "r.(?)" "p.(Ser84Thrfs*16)" "3"
"0000125248" "00001847" "70" "2023" "0" "2023" "0" "c.2023G>A" "r.(?)" "p.(Val675Ile)" "14"
"0000125249" "00001847" "70" "5646" "0" "5646" "0" "c.5646G>A" "r.(?)" "p.(Met1882Ile)" "40"
"0000125250" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000125251" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000125252" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000125253" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000125254" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000125255" "00001847" "50" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000125256" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000125257" "00001847" "70" "3050" "5" "3050" "5" "c.3050+5G>A" "r.spl" "p.?" "20i"
"0000125258" "00001847" "50" "859" "-9" "859" "-9" "c.859-9T>C" "r.(?)" "p.(?)" "7i"
"0000125259" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000125260" "00001847" "70" "3050" "5" "3050" "5" "c.3050+5G>A" "r.spl" "p.?" "20i"
"0000125261" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000125262" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000125263" "00001847" "70" "4328" "0" "4328" "0" "c.4328G>A" "r.(?)" "p.(Arg1443His)" "29"
"0000125264" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000125265" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000125266" "00001847" "50" "5395" "0" "5395" "0" "c.5395A>G" "r.(?)" "p.(Asn1799Asp)" "38"
"0000125267" "00001847" "50" "6229" "0" "6229" "0" "c.6229C>T" "r.(?)" "p.(Arg2077Trp)" "45"
"0000125268" "00001847" "90" "6173" "0" "6173" "0" "c.6173T>G" "r.(?)" "p.(Leu2058Arg)" "45"
"0000125269" "00001847" "70" "4773" "1" "4773" "1" "c.4773+1G>T" "r.spl" "p.?" "33i"
"0000125270" "00001847" "90" "6173" "0" "6173" "0" "c.6173T>G" "r.(?)" "p.(Leu2058Arg)" "45"
"0000125271" "00001847" "70" "5935" "0" "5935" "0" "c.5935del" "r.(?)" "p.(Thr1979Glnfs*13)" "43"
"0000125272" "00001847" "90" "6389" "0" "6389" "0" "c.6389T>A" "r.(?)" "p.(Met2130Lys)" "47"
"0000125273" "00001847" "70" "6118" "0" "6118" "0" "c.6118C>T" "r.(?)" "p.(Arg2040*)" "44"
"0000125274" "00001847" "90" "6816" "1" "6816" "1" "c.6816+1G>A" "r.spl" "p.?" "49i"
"0000125275" "00001847" "90" "4555" "0" "4555" "0" "c.4555del" "r.(?)" "p.(Thr1519Argfs*7)" "31"
"0000125276" "00001847" "70" "4352" "1" "4352" "1" "c.4352+1G>A" "r.spl" "p.?" "29i"
"0000125277" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000125278" "00001847" "70" "4352" "1" "4352" "1" "c.4352+1G>A" "r.spl" "p.?" "29i"
"0000125279" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000125280" "00001847" "70" "5646" "0" "5646" "0" "c.5646G>A" "r.(?)" "p.(Met1882Ile)" "40"
"0000125281" "00001847" "70" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000125282" "00001847" "70" "4555" "0" "4555" "0" "c.4555del" "r.(?)" "p.(Thr1519Argfs*7)" "31"
"0000125283" "00001847" "90" "164" "0" "164" "0" "c.164A>G" "r.(?)" "p.(His55Arg)" "3"
"0000125284" "00001847" "70" "161" "-2" "161" "-2" "c.161-2A>G" "r.spl" "p.?" "2i"
"0000125285" "00001847" "90" "101" "0" "106" "0" "c.101_106del" "r.(?)" "p.(Ser34_Leu35del)" "2"
"0000125286" "00001847" "70" "161" "-2" "161" "-2" "c.161-2A>G" "r.spl" "p.?" "2i"
"0000125287" "00001847" "90" "101" "0" "106" "0" "c.101_106del" "r.(?)" "p.(Ser34_Leu35del)" "2"
"0000125288" "00001847" "90" "2424" "0" "2424" "0" "c.2424C>G" "r.(?)" "p.(Tyr808*)" "16"
"0000125289" "00001847" "90" "1561" "0" "1561" "0" "c.1561del" "r.(?)" "p.(Val521Serfs*47)" "12"
"0000125290" "00001847" "90" "6284" "0" "6284" "0" "c.6284A>T" "r.(?)" "p.(Asp2095Val, ?)" "46"
"0000125291" "00001847" "70" "22" "0" "22" "0" "c.22C>T" "r.(?)" "p.(Gln8*)" "1"
"0000125292" "00001847" "70" "240" "0" "241" "0" "c.240_241del" "r.(?)" "p.(Cys81Phefs*17)" "3"
"0000125293" "00001847" "90" "101" "0" "106" "0" "c.101_106del" "r.(?)" "p.(Ser34_Leu35del)" "2"
"0000125294" "00001847" "70" "240" "0" "241" "0" "c.240_241del" "r.(?)" "p.(Cys81Phefs*17)" "3"
"0000125295" "00001847" "90" "101" "0" "106" "0" "c.101_106del" "r.(?)" "p.(Ser34_Leu35del)" "2"
"0000125296" "00001847" "70" "4195" "0" "4195" "0" "c.4195G>T" "r.(?)" "p.(Glu1399*)" "28"
"0000125297" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000125298" "00001847" "70" "4195" "0" "4195" "0" "c.4195G>T" "r.(?)" "p.(Glu1399*)" "28"
"0000125299" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000125300" "00001847" "70" "4195" "0" "4195" "0" "c.4195G>T" "r.(?)" "p.(Glu1399*)" "28"
"0000125301" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000125302" "00001847" "90" "4773" "1" "4773" "1" "c.4773+1G>T" "r.spl" "p.?" "33i"
"0000125303" "00001847" "70" "5646" "0" "5646" "0" "c.5646G>A" "r.(?)" "p.(Met1882Ile)" "40"
"0000125304" "00001847" "70" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000125305" "00001847" "90" "6563" "0" "6563" "0" "c.6563T>C" "r.(?)" "p.(Phe2188Ser)" "48"
"0000125306" "00001847" "70" "858" "2" "858" "2" "c.858+2T>A" "r.spl" "p.?" "7i"
"0000125307" "00001847" "70" "6317" "0" "6317" "0" "c.6317G>C" "r.(?)" "p.(Arg2106Pro)" "46"
"0000125308" "00001847" "70" "101" "0" "106" "0" "c.101_106del" "r.(?)" "p.(Ser34_Leu35del)" "2"
"0000125309" "00001847" "90" "6479" "2" "6479" "2" "c.6479+2T>C" "r.spl?" "p.(?)" "47i"
"0000125310" "00001847" "90" "5196" "1" "5196" "1" "c.5196+1G>A" "r.spl" "p.?" "36i"
"0000125311" "00001847" "70" "5646" "0" "5646" "0" "c.5646G>A" "r.(?)" "p.(Met1882Ile)" "40"
"0000125312" "00001847" "70" "4622" "0" "4622" "0" "c.4622T>C" "r.(?)" "p.(Leu1541Pro)" "31"
"0000125313" "00001847" "70" "4793" "0" "4793" "0" "c.4793C>G" "r.(?)" "p.(Ala1598Gly)" "34"
"0000125314" "00001847" "70" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000125315" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000125316" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000125317" "00001847" "50" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.(?)" "6"
"0000125318" "00001847" "50" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.(?)" "6"
"0000125319" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.(?)" "38i"
"0000125320" "00001847" "50" "319" "0" "319" "0" "c.319C>T" "r.(?)" "p.(Arg107*)" "4"
"0000125321" "00001847" "50" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000125322" "00001847" "70" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.(?)" "6"
"0000125323" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000125324" "00001847" "70" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000125325" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000125326" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000125327" "00001847" "70" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000125328" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000125329" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.?" "40i"
"0000125330" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000125331" "00001847" "70" "4667" "2" "4667" "2" "c.4667+2T>C" "r.spl?" "p.(?)" "32i"
"0000125332" "00001847" "50" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(?)" "p.(?)" "38i"
"0000125333" "00001847" "70" "4070" "0" "4070" "0" "c.4070C>T" "r.(?)" "p.(Ala1357Val)" "27"
"0000125334" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000125335" "00001847" "50" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000125336" "00001847" "70" "478" "0" "478" "0" "c.478G>T" "r.(?)" "p.(Glu160*)" "5"
"0000125337" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000125338" "00001847" "70" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000125339" "00001847" "30" "1577" "0" "1577" "0" "c.1577A>C" "r.(?)" "p.(Glu526Ala)" "12"
"0000125340" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000125341" "00001847" "70" "3007" "0" "3007" "0" "c.3007C>T" "r.(?)" "p.(Gln1003*)" "20"
"0000125342" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000125343" "00001847" "90" "1937" "1" "1937" "1" "c.1937+1G>A" "r.spl" "p.?" "13i"
"0000125344" "00001847" "90" "1937" "1" "1937" "1" "c.1937+1G>A" "r.spl" "p.?" "13i"
"0000125345" "00001847" "50" "6148" "-698" "6670" "0" "c.6148-698_6670delinsTGTGCACCTCCCTAG" "r.spl" "p.?" "44i_48"
"0000125346" "00001847" "30" "302" "68" "302" "68" "c.302+68C>T" "r.=" "p.=" "3i"
"0000125347" "00001847" "90" "4539" "2028" "4539" "2028" "c.4539+2028C>T" "r.4539_4540ins[4539+1891_4539+2027;u;4539+2029_4540-2162]" "p.Arg1514Leufs*36" "30i"
"0000125348" "00001847" "50" "6148" "-698" "6670" "0" "c.6148-698_6670delinsTGTGCACCTCCCTAG" "r.spl" "p.?" "44i_48"
"0000125349" "00001847" "50" "302" "68" "302" "68" "c.302+68C>T" "r.(?)" "p.(?)" "3i"
"0000125350" "00001847" "90" "4539" "2028" "4539" "2028" "c.4539+2028C>T" "r.(?)" "p.(?)" "30i"
"0000125351" "00001847" "50" "161" "0" "161" "0" "c.161G>A" "r.(?)" "p.(Cys54Tyr, ?)" "3"
"0000125352" "00001847" "50" "302" "68" "302" "68" "c.302+68C>T" "r.(?)" "p.(?)" "3i"
"0000125353" "00001847" "90" "4539" "2028" "4539" "2028" "c.4539+2028C>T" "r.(?)" "p.(?)" "30i"
"0000125354" "00001847" "50" "302" "68" "302" "68" "c.302+68C>T" "r.(?)" "p.(?)" "3i"
"0000125355" "00001847" "70" "4539" "2028" "4539" "2028" "c.4539+2028C>T" "r.(?)" "p.(?)" "30i"
"0000125356" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000125357" "00001847" "70" "6148" "-698" "6670" "0" "c.6148-698_6670delinsTGTGCACCTCCCTAG" "r.spl" "p.?" "44i_48"
"0000125358" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000125359" "00001847" "90" "2927" "0" "2927" "0" "c.2927del" "r.(?)" "p.(Leu976Argfs*55)" "20"
"0000125360" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000125361" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000125362" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000125363" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000125364" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000125365" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000125366" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000125367" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000125368" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000125369" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000125370" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000125371" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000125372" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000125373" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000125374" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000125375" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000125376" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000125377" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000125378" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000125379" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000125380" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000125381" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000125382" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000125383" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000125384" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000125385" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000125386" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000125387" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000125388" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000125389" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000125390" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000125391" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000125392" "00001847" "50" "455" "0" "455" "0" "c.455G>A" "r.(?)" "p.(Arg152Gln)" "5"
"0000125393" "00001847" "70" "6148" "0" "6148" "0" "c.6148G>C" "r.(?)" "p.[(Val2050Leu, ?)]" "45"
"0000125394" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000125395" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000125396" "00001847" "50" "455" "0" "455" "0" "c.455G>A" "r.(?)" "p.(Arg152Gln)" "5"
"0000125397" "00001847" "70" "6148" "0" "6148" "0" "c.6148G>C" "r.(?)" "p.[(Val2050Leu, ?)]" "45"
"0000125398" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000125399" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000125400" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000125401" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000125402" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000125403" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000125404" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000125405" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000125406" "00001847" "70" "4540" "-2" "4540" "-2" "c.4540-2A>G" "r.spl" "p.?" "30i"
"0000125407" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000125408" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000125409" "00001847" "70" "4540" "-2" "4540" "-2" "c.4540-2A>G" "r.spl" "p.?" "30i"
"0000125410" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000125411" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000125412" "00001847" "70" "1343" "0" "1343" "0" "c.1343T>A" "r.(?)" "p.(Met448Lys)" "10"
"0000125413" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000125414" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000125415" "00001847" "70" "1343" "0" "1343" "0" "c.1343T>A" "r.(?)" "p.(Met448Lys)" "10"
"0000125416" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000125417" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000125418" "00001847" "70" "5460" "1" "5460" "1" "c.5460+1G>A" "r.spl" "p.?" "38i"
"0000125419" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000125420" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000125421" "00001847" "70" "4919" "0" "4919" "0" "c.4919G>A" "r.(?)" "p.(Arg1640Gln)" "35"
"0000125422" "00001847" "30" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000125423" "00001847" "30" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000125424" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000125425" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000125426" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000125427" "00001847" "70" "4234" "0" "4234" "0" "c.4234C>T" "r.(?)" "p.(Gln1412*)" "28"
"0000125428" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000125429" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000125430" "00001847" "70" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000125431" "00001847" "50" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000125432" "00001847" "50" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000125433" "00001847" "70" "5836" "-3" "5836" "-3" "c.5836-3C>A" "r.spl?" "p.(?)" "41i"
"0000125434" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000125435" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000125436" "00001847" "70" "1748" "0" "1748" "0" "c.1748A>T" "r.(?)" "p.(Lys583Met)" "12"
"0000125437" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000125438" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000125439" "00001847" "70" "4519" "0" "4519" "0" "c.4519G>A" "r.(?)" "p.(Gly1507Arg)" "30"
"0000125440" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000125441" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000125442" "00001847" "70" "6148" "0" "6148" "0" "c.6148G>C" "r.(?)" "p.(Val2050Leu, ?)" "45"
"0000125443" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000125444" "00001847" "50" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000125445" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000125446" "00001847" "70" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.(?)" "38i"
"0000125447" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000125448" "00001847" "70" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.(?)" "38i"
"0000125449" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000125450" "00001847" "70" "1988" "0" "1988" "0" "c.1988G>A" "r.(?)" "p.(Trp663*)" "14"
"0000125451" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000125452" "00001847" "70" "5312" "1" "5312" "1" "c.5312+1G>A" "r.spl" "p.?" "37i"
"0000125453" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000125454" "00001847" "70" "5312" "2" "5312" "2" "c.5312+2T>G" "r.spl" "p.?" "37i"
"0000125455" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000125456" "00001847" "70" "2852" "0" "2852" "0" "c.2852T>C" "r.(?)" "p.(Ile951Thr)" "19"
"0000125457" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000125458" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000125459" "00001847" "70" "2521" "0" "2521" "0" "c.2521C>T" "r.(?)" "p.(Gln841*)" "16"
"0000125460" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000125461" "00001847" "70" "6319" "0" "6325" "0" "c.6319_6325del" "r.(?)" "p.(Arg2107Cysfs*6)" "46"
"0000125462" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000125463" "00001847" "70" "4559" "0" "4559" "0" "c.4559A>G" "r.(?)" "p.(Glu1520Gly)" "31"
"0000125464" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000125465" "00001847" "50" "455" "0" "455" "0" "c.455G>A" "r.(?)" "p.(Arg152Gln)" "5"
"0000125466" "00001847" "70" "6148" "0" "6148" "0" "c.6148G>C" "r.(?)" "p.[(Val2050Leu, ?)]" "45"
"0000125467" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000125468" "00001847" "70" "4234" "0" "4234" "0" "c.4234C>T" "r.(?)" "p.(Gln1412*)" "28"
"0000125469" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000125470" "00001847" "70" "2875" "0" "2875" "0" "c.2875A>G" "r.(?)" "p.(Thr959Ala)" "19"
"0000125471" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000125472" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000125473" "00001847" "90" "4234" "0" "4234" "0" "c.4234C>T" "r.(?)" "p.(Gln1412*)" "28"
"0000125474" "00001847" "90" "6479" "1" "6479" "1" "c.6479+1G>A" "r.spl" "p.?" "47i"
"0000125475" "00001847" "70" "4234" "0" "4234" "0" "c.4234C>T" "r.(?)" "p.(Gln1412*)" "28"
"0000125476" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000125477" "00001847" "70" "4234" "0" "4234" "0" "c.4234C>T" "r.(?)" "p.(Gln1412*)" "28"
"0000125478" "00001847" "90" "3259" "0" "3259" "0" "c.3259G>A" "r.(?)" "p.(Glu1087Lys)" "22"
"0000125479" "00001847" "70" "4234" "0" "4234" "0" "c.4234C>T" "r.(?)" "p.(Gln1412*)" "28"
"0000125480" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000125481" "00001847" "50" "4234" "0" "4234" "0" "c.4234C>T" "r.(?)" "p.(Gln1412*)" "28"
"0000125482" "00001847" "50" "4234" "0" "4234" "0" "c.4234C>T" "r.(?)" "p.(Gln1412*)" "28"
"0000125483" "00001847" "50" "4234" "0" "4234" "0" "c.4234C>T" "r.(?)" "p.(Gln1412*)" "28"
"0000125484" "00001847" "50" "455" "0" "455" "0" "c.455G>A" "r.(?)" "p.(Arg152Gln)" "5"
"0000125485" "00001847" "90" "6148" "0" "6148" "0" "c.6148G>C" "r.(?)" "p.[(Val2050Leu, ?)]" "45"
"0000125486" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.?" "40i"
"0000125487" "00001847" "50" "455" "0" "455" "0" "c.455G>A" "r.(?)" "p.(Arg152Gln)" "5"
"0000125488" "00001847" "90" "6148" "0" "6148" "0" "c.6148G>C" "r.(?)" "p.[(Val2050Leu, ?)]" "45"
"0000125489" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.?" "40i"
"0000125490" "00001847" "50" "455" "0" "455" "0" "c.455G>A" "r.(?)" "p.(Arg152Gln)" "5"
"0000125491" "00001847" "90" "6148" "0" "6148" "0" "c.6148G>C" "r.(?)" "p.[(Val2050Leu, ?)]" "45"
"0000125492" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000125493" "00001847" "50" "455" "0" "455" "0" "c.455G>A" "r.(?)" "p.(Arg152Gln)" "5"
"0000125494" "00001847" "70" "6148" "0" "6148" "0" "c.6148G>C" "r.(?)" "p.[(Val2050Leu, ?)]" "45"
"0000125495" "00001847" "90" "6446" "0" "6446" "0" "c.6446G>T" "r.(?)" "p.(Arg2149Leu)" "47"
"0000125496" "00001847" "50" "455" "0" "455" "0" "c.455G>A" "r.(?)" "p.(Arg152Gln)" "5"
"0000125497" "00001847" "50" "6148" "0" "6148" "0" "c.6148G>C" "r.(?)" "p.[(Val2050Leu, ?)]" "45"
"0000125498" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000125499" "00001847" "70" "4540" "-2" "4540" "-2" "c.4540-2A>G" "r.spl" "p.?" "30i"
"0000125500" "00001847" "90" "5312" "1" "5312" "1" "c.5312+1G>A" "r.spl" "p.?" "37i"
"0000125501" "00001847" "90" "4872" "0" "4872" "0" "c.4872G>A" "r.(?)" "p.(Trp1624*)" "35"
"0000125502" "00001847" "50" "5312" "1" "5312" "1" "c.5312+1G>A" "r.spl" "p.?" "37i"
"0000125503" "00001847" "90" "5312" "1" "5312" "1" "c.5312+1G>A" "r.spl" "p.?" "37i"
"0000125504" "00001847" "50" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" "44"
"0000125505" "00001847" "50" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" "44"
"0000125506" "00001847" "70" "1022" "0" "1022" "0" "c.1022A>G" "r.(?)" "p.(Glu341Gly)" "8"
"0000125507" "00001847" "90" "6118" "0" "6118" "0" "c.6118C>T" "r.(?)" "p.(Arg2040*)" "44"
"0000125508" "00001847" "90" "5460" "1" "5460" "1" "c.5460+1G>A" "r.spl" "p.?" "38i"
"0000125509" "00001847" "70" "5196" "1" "5196" "1" "c.5196+1G>A" "r.spl" "p.?" "36i"
"0000125510" "00001847" "90" "2461" "0" "2461" "0" "c.2461T>A" "r.(?)" "p.(Trp821Arg)" "16"
"0000125511" "00001847" "70" "1957" "0" "1957" "0" "c.1957C>T" "r.(?)" "p.(Arg653Cys)" "14"
"0000125512" "00001847" "70" "1748" "0" "1748" "0" "c.1748A>T" "r.(?)" "p.(Lys583Met)" "12"
"0000125513" "00001847" "70" "3758" "0" "3758" "0" "c.3758C>T" "r.(?)" "p.(Thr1253Met)" "25"
"0000125514" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000125515" "00001847" "70" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.(?)" "38i"
"0000125516" "00001847" "50" "2023" "0" "2023" "0" "c.2023G>A" "r.(?)" "p.(Val675Ile)" "14"
"0000125517" "00001847" "70" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.(?)" "38i"
"0000125518" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000125519" "00001847" "50" "1928" "0" "1928" "0" "c.1928T>G" "r.(?)" "p.(Val643Gly)" "13"
"0000125520" "00001847" "50" "2564" "0" "2564" "0" "c.2564G>A" "r.(?)" "p.(Trp855*)" "16"
"0000125521" "00001847" "50" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000125522" "00001847" "50" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000125523" "00001847" "50" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000125524" "00001847" "50" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000125525" "00001847" "50" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000125526" "00001847" "50" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000125527" "00001847" "50" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000125528" "00001847" "50" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000125529" "00001847" "50" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000125530" "00001847" "50" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000125531" "00001847" "50" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000125532" "00001847" "50" "4253" "5" "4253" "5" "c.4253+5G>T" "r.spl?" "p.(?)" "28i"
"0000125533" "00001847" "50" "5196" "2" "5196" "2" "c.5196+2T>C" "r.spl?" "p.?" "36i"
"0000125534" "00001847" "50" "5585" "-1" "5585" "-1" "c.5585-1G>A" "r.(?)" "p.(?)" "39i"
"0000125535" "00001847" "50" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.?" "40i"
"0000125536" "00001847" "50" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.?" "40i"
"0000125537" "00001847" "50" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.?" "40i"
"0000125538" "00001847" "50" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.?" "40i"
"0000125539" "00001847" "50" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.?" "40i"
"0000125540" "00001847" "50" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.?" "40i"
"0000125541" "00001847" "50" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.?" "40i"
"0000125542" "00001847" "50" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.?" "40i"
"0000125543" "00001847" "50" "5898" "1" "5898" "1" "c.5898+1G>T" "r.spl" "p.?" "42i"
"0000125544" "00001847" "50" "5898" "1" "5898" "1" "c.5898+1G>T" "r.spl" "p.?" "42i"
"0000125545" "00001847" "50" "5898" "1" "5898" "1" "c.5898+1G>T" "r.spl" "p.?" "42i"
"0000125546" "00001847" "50" "6005" "1" "6005" "1" "c.6005+1G>T" "r.spl" "p.?" "43i"
"0000125547" "00001847" "50" "6148" "0" "6148" "0" "c.6148G>C" "r.(?)" "p.(Val2050Leu, ?)" "45"
"0000125548" "00001847" "50" "6148" "0" "6148" "0" "c.6148G>C" "r.(?)" "p.(Val2050Leu, ?)" "45"
"0000125549" "00001847" "50" "302" "4" "302" "4" "c.302+4A>C" "r.spl?" "p.(?)" "3i"
"0000125550" "00001847" "50" "302" "4" "302" "4" "c.302+4A>C" "r.spl?" "p.(?)" "3i"
"0000125551" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000125552" "00001847" "90" "5898" "1" "5898" "1" "c.5898+1G>A" "r.spl" "p.?" "42i"
"0000125553" "00001847" "70" "2564" "0" "2564" "0" "c.2564G>A" "r.(?)" "p.(Trp855*)" "16"
"0000125554" "00001847" "90" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" "31"
"0000125555" "00001847" "50" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" "31"
"0000125556" "00001847" "70" "5196" "1" "5196" "1" "c.5196+1G>A" "r.spl" "p.?" "36i"
"0000125557" "00001847" "90" "6703" "0" "6703" "0" "c.6703T>C" "r.(?)" "p.(Ser2235Pro)" "48"
"0000125558" "00001847" "90" "161" "0" "161" "0" "c.161G>A" "r.(?)" "p.(Cys54Tyr, ?)" "3"
"0000125559" "00001847" "90" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.(?)" "p.(?)" "36i"
"0000125560" "00001847" "50" "66" "0" "66" "0" "c.66G>A" "r.(?)" "p.[(Lys21=, ?)]" "1"
"0000125561" "00001847" "90" "859" "-9" "859" "-9" "c.859-9T>C" "r.(?)" "p.(?)" "7i"
"0000125562" "00001847" "90" "6658" "0" "6658" "0" "c.6658C>T" "r.(?)" "p.(Gln2220*)" "48"
"0000125563" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000125564" "00001847" "70" "3050" "5" "3050" "5" "c.3050+5G>A" "r.spl" "p.?" "20i"
"0000125565" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000125566" "00001847" "70" "3050" "5" "3050" "5" "c.3050+5G>A" "r.spl" "p.?" "20i"
"0000125567" "00001847" "50" "2966" "0" "2966" "0" "c.2966T>C" "r.(?)" "p.(Val989Ala)" "20"
"0000125568" "00001847" "70" "4253" "5" "4253" "5" "c.4253+5G>T" "r.spl?" "p.(?)" "28i"
"0000125569" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000125570" "00001847" "30" "4322" "0" "4322" "0" "c.4322G>A" "r.(?)" "p.(Gly1441Asp)" "29"
"0000125571" "00001847" "90" "5312" "1" "5312" "1" "c.5312+1G>A" "r.spl" "p.?" "37i"
"0000125572" "00001847" "90" "6088" "0" "6088" "0" "c.6088C>T" "r.(?)" "p.(Arg2030*)" "44"
"0000125573" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000125574" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000125575" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000125576" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000125577" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000125578" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000125579" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000125580" "00001847" "70" "5196" "1056" "5196" "1056" "c.5196+1056A>G" "r.spl?" "p.(?)" "36i"
"0000125581" "00001847" "50" "247" "0" "250" "0" "c.247_250dup" "r.(?)" "p.(Ser84Thrfs*16)" "3"
"0000125582" "00001847" "30" "1577" "0" "1577" "0" "c.1577A>C" "r.(?)" "p.(Glu526Ala)" "12"
"0000125583" "00001847" "70" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000125584" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000125585" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000125586" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000125587" "00001847" "90" "2813" "0" "2813" "0" "c.2813T>C" "r.(?)" "p.(Phe938Ser)" "19"
"0000125588" "00001847" "70" "3898" "0" "3898" "0" "c.3898C>T" "r.(?)" "p.(Arg1300*)" "27"
"0000125589" "00001847" "50" "2300" "0" "2300" "0" "c.2300T>A" "r.(?)" "p.(Val767Asp)" "15"
"0000125590" "00001847" "50" "735" "0" "735" "0" "c.735T>G" "r.(?)" "p.(Tyr245*)" "6"
"0000125591" "00001847" "70" "3352" "0" "3352" "0" "c.3352C>T" "r.(?)" "p.(His1118Tyr)" "23"
"0000125592" "00001847" "70" "4222" "0" "4222" "0" "c.4222T>C" "r.(?)" "p.(Trp1408Arg)" "28"
"0000125593" "00001847" "70" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" "35"
"0000125594" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000125595" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000125596" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000125597" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.?" "40i"
"0000125598" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000125599" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.?" "40i"
"0000125600" "00001847" "70" "4639" "0" "4639" "0" "c.4639A>T" "r.(?)" "p.(Lys1547*)" "32"
"0000125601" "00001847" "90" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" "44"
"0000125602" "00001847" "90" "161" "0" "161" "0" "c.161G>A" "r.(?)" "p.(Cys54Tyr, ?)" "3"
"0000125603" "00001847" "70" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408*)" "9"
"0000125604" "00001847" "90" "4249" "0" "4251" "0" "c.4249_4251del" "r.(?)" "p.(Phe1417del)" "28"
"0000125605" "00001847" "70" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408*)" "9"
"0000125606" "00001847" "90" "4249" "0" "4251" "0" "c.4249_4251del" "r.(?)" "p.(Phe1417del)" "28"
"0000125607" "00001847" "70" "2893" "0" "2893" "0" "c.2893A>T" "r.(?)" "p.(Asn965Tyr)" "19"
"0000125608" "00001847" "70" "4457" "0" "4457" "0" "c.4457C>T" "r.(?)" "p.(Pro1486Leu)" "30"
"0000125609" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000125610" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000125611" "00001847" "70" "3385" "0" "3385" "0" "c.3385C>T" "r.(?)" "p.(Arg1129Cys)" "23"
"0000125612" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000125613" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000125614" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000125615" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000125616" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000125617" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000125618" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000125619" "00001847" "70" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000125620" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000125621" "00001847" "50" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000125622" "00001847" "30" "247" "0" "250" "0" "c.247_250dup" "r.(?)" "p.(Ser84Thrfs*16)" "3"
"0000125623" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000125624" "00001847" "70" "3898" "0" "3898" "0" "c.3898C>T" "r.(?)" "p.(Arg1300*)" "27"
"0000125625" "00001847" "90" "6316" "0" "6316" "0" "c.6316C>T" "r.(?)" "p.(Arg2106Cys)" "46"
"0000125626" "00001847" "70" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.(?)" "38i"
"0000125627" "00001847" "50" "5537" "0" "5537" "0" "c.5537T>C" "r.(?)" "p.(Ile1846Thr)" "39"
"0000125628" "00001847" "70" "1822" "0" "1822" "0" "c.1822T>A" "r.(?)" "p.(Phe608Ile)" "13"
"0000125629" "00001847" "70" "4685" "0" "4685" "0" "c.4685T>C" "r.(?)" "p.(Ile1562Thr)" "33"
"0000125630" "00001847" "50" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(?)" "p.(?)" "38i"
"0000125631" "00001847" "50" "1822" "0" "1822" "0" "c.1822T>A" "r.(?)" "p.(Phe608Ile)" "13"
"0000125632" "00001847" "50" "286" "0" "286" "0" "c.286A>G" "r.(?)" "p.(Asn96Asp)" "3"
"0000125633" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000125634" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000125635" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000125636" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000125637" "00001847" "70" "206" "0" "206" "0" "c.206G>A" "r.(?)" "p.(Trp69*)" "3"
"0000125638" "00001847" "70" "45" "0" "45" "0" "c.45G>A" "r.(?)" "p.(Trp15*)" "1"
"0000125639" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000125640" "00001847" "90" "1253" "0" "1253" "0" "c.1253T>C" "r.(?)" "p.(Phe418Ser)" "10"
"0000125641" "00001847" "50" "656" "0" "656" "0" "c.656G>C" "r.(?)" "p.(Arg219Thr)" "6"
"0000125642" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000125643" "00001847" "90" "1009" "0" "1009" "0" "c.1009T>C" "r.(?)" "p.(Phe337Leu)" "8"
"0000125644" "00001847" "70" "1937" "1" "1937" "1" "c.1937+1G>A" "r.spl" "p.?" "13i"
"0000125645" "00001847" "70" "3212" "0" "3212" "0" "c.3212C>T" "r.(?)" "p.(Ser1071Leu)" "22"
"0000125646" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000125647" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000125648" "00001847" "70" "1309" "0" "1309" "0" "c.1309del" "r.(?)" "p.Gln437Argfs*12" "10"
"0000125649" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000125650" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000125651" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000125652" "00001847" "50" "1654" "0" "1654" "0" "c.1654G>A" "r.(?)" "p.(Val552Ile)" "12"
"0000125653" "00001847" "70" "4771" "0" "4771" "0" "c.4771G>A" "r.(?)" "p.(Gly1591Arg)" "33"
"0000125654" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000125655" "00001847" "70" "2300" "0" "2300" "0" "c.2300T>A" "r.(?)" "p.(Val767Asp)" "15"
"0000125656" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000125657" "00001847" "90" "194" "0" "194" "0" "c.194G>C" "r.(?)" "p.(Gly65Ala)" "3"
"0000125658" "00001847" "90" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973*)" "43"
"0000125659" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.?" "40i"
"0000125660" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000125661" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000125662" "00001847" "79" "1761" "-1" "1937" "1" "c.(1760+1_1761-1)_(1937+1_1938-1)del" "r.(?)" "p.(Arg587_Asp645del)" "12i_13i"
"0000125663" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.?" "40i"
"0000125664" "00001847" "90" "3261" "0" "3261" "0" "c.3261A>C" "r.(?)" "p.(Glu1087Asp)" "22"
"0000125665" "00001847" "90" "2919" "-1" "3328" "1" "c.(2918+1_2919-1)_(3328+1_3329-1)del" "r.(del)" "p.(Ser974Glnfs*64)" "19i_22i"
"0000125666" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000125667" "00001847" "70" "6419" "0" "6419" "0" "c.6419T>G" "r.(?)" "p.(Leu2140Gln)" "47"
"0000125668" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000125669" "00001847" "70" "4234" "0" "4234" "0" "c.4234C>T" "r.(?)" "p.(Gln1412*)" "28"
"0000125670" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000125671" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000125672" "00001847" "70" "32" "0" "32" "0" "c.32T>C" "r.(?)" "p.(Leu11Pro)" "1"
"0000125673" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000125674" "00001847" "70" "52" "0" "52" "0" "c.52C>T" "r.(?)" "p.(Arg18Trp)" "1"
"0000125675" "00001847" "70" "1800" "0" "1800" "0" "c.1800T>G" "r.(?)" "p.(Asp600Glu)" "13"
"0000125676" "00001847" "70" "123" "0" "123" "0" "c.123G>A" "r.(?)" "p.(Trp41*)" "2"
"0000125677" "00001847" "90" "3292" "0" "3292" "0" "c.3292C>T" "r.(?)" "p.(Arg1098Cys)" "22"
"0000125678" "00001847" "90" "161" "0" "161" "0" "c.161G>A" "r.(?)" "p.(Cys54Tyr, ?)" "3"
"0000125679" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000125680" "00001847" "70" "161" "0" "161" "0" "c.161G>A" "r.(?)" "p.(Cys54Tyr, ?)" "3"
"0000125681" "00001847" "90" "3385" "0" "3385" "0" "c.3385C>T" "r.(?)" "p.(Arg1129Cys)" "23"
"0000125682" "00001847" "90" "161" "0" "161" "0" "c.161G>A" "r.(?)" "p.(Cys54Tyr, ?)" "3"
"0000125683" "00001847" "90" "5018" "2" "5018" "2" "c.5018+2T>C" "r.spl?" "p.(?)" "35i"
"0000125684" "00001847" "70" "161" "0" "161" "0" "c.161G>A" "r.(?)" "p.(Cys54Tyr, ?)" "3"
"0000125685" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000125686" "00001847" "70" "179" "0" "179" "0" "c.179C>T" "r.(?)" "p.(Ala60Val)" "3"
"0000125687" "00001847" "70" "2791" "0" "2791" "0" "c.2791G>A" "r.(?)" "p.(Val931Met)" "19"
"0000125688" "00001847" "70" "298" "0" "298" "0" "c.298T>C" "r.(?)" "p.(Ser100Pro)" "3"
"0000125689" "00001847" "70" "3602" "0" "3602" "0" "c.3602T>G" "r.(?)" "p.(Leu1201Arg)" "24"
"0000125690" "00001847" "50" "454" "0" "454" "0" "c.454C>T" "r.(?)" "p.(Arg152*)" "5"
"0000125691" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.(?)" "38i"
"0000125692" "00001847" "70" "454" "0" "454" "0" "c.454C>T" "r.(?)" "p.(Arg152*)" "5"
"0000125693" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000125694" "00001847" "70" "454" "0" "454" "0" "c.454C>T" "r.(?)" "p.(Arg152*)" "5"
"0000125695" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000125696" "00001847" "70" "574" "0" "574" "0" "c.574G>A" "r.(?)" "p.(Ala192Thr)" "6"
"0000125697" "00001847" "70" "4574" "0" "4574" "0" "c.4574T>C" "r.(?)" "p.(Leu1525Pro)" "31"
"0000125698" "00001847" "70" "658" "0" "658" "0" "c.658C>T" "r.(?)" "p.(Arg220Cys)" "6"
"0000125699" "00001847" "70" "731" "0" "731" "0" "c.731T>C" "r.(?)" "p.(Leu244Pro)" "6"
"0000125700" "00001847" "70" "731" "0" "731" "0" "c.731T>C" "r.(?)" "p.(Leu244Pro)" "6"
"0000125701" "00001847" "70" "731" "0" "731" "0" "c.731T>C" "r.(?)" "p.(Leu244Pro)" "6"
"0000125702" "00001847" "70" "731" "0" "731" "0" "c.731T>C" "r.(?)" "p.(Leu244Pro)" "6"
"0000125703" "00001847" "90" "735" "0" "735" "0" "c.735T>G" "r.(?)" "p.(Tyr245*)" "6"
"0000125704" "00001847" "90" "735" "0" "735" "0" "c.735T>G" "r.(?)" "p.(Tyr245*)" "6"
"0000125705" "00001847" "70" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.(=,?)" "6"
"0000125706" "00001847" "50" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" "31"
"0000125707" "00001847" "70" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.(=,?)" "6"
"0000125708" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000125709" "00001847" "70" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.(=,?)" "6"
"0000125710" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000125711" "00001847" "50" "1086" "0" "1086" "0" "c.1086T>A" "r.(?)" "p.(Tyr362*)" "8"
"0000125712" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.(?)" "38i"
"0000125713" "00001847" "70" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000125714" "00001847" "70" "5687" "0" "5687" "0" "c.5687T>A" "r.(?)" "p.(Val1896Asp)" "40"
"0000125715" "00001847" "50" "1988" "0" "1988" "0" "c.1988G>A" "r.(?)" "p.(Trp663*)" "14"
"0000125716" "00001847" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "?"
"0000125717" "00001847" "70" "2041" "0" "2041" "0" "c.2041C>T" "r.(?)" "p.(Arg681*)" "14"
"0000125718" "00001847" "90" "926" "0" "926" "0" "c.926C>G" "r.(?)" "p.(Pro309Arg)" "8"
"0000125719" "00001847" "70" "2041" "0" "2041" "0" "c.2041C>T" "r.(?)" "p.(Arg681*)" "14"
"0000125720" "00001847" "90" "6449" "0" "6449" "0" "c.6449G>A" "r.(?)" "p.(Cys2150Tyr)" "47"
"0000125721" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000125722" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000125723" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000125724" "00001847" "90" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000125725" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000125726" "00001847" "90" "5395" "0" "5395" "0" "c.5395A>G" "r.(?)" "p.(Asn1799Asp)" "38"
"0000125727" "00001847" "90" "2804" "0" "2804" "0" "c.2804T>C" "r.(?)" "p.(Val935Ala)" "19"
"0000125728" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.?" "40i"
"0000125729" "00001847" "70" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000125730" "00001847" "70" "3056" "0" "3056" "0" "c.3056C>T" "r.(?)" "p.(Thr1019Met)" "21"
"0000125731" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000125732" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000125733" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000125734" "00001847" "70" "2453" "0" "2453" "0" "c.2453G>A" "r.(?)" "p.(Gly818Glu)" "16"
"0000125735" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000125736" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000125737" "00001847" "70" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000125738" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000125739" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000125740" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000125741" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000125742" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000125743" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000125744" "00001847" "50" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000125745" "00001847" "70" "5584" "6" "5584" "6" "c.5584+6T>C" "r.spl?" "p.(?)" "39i"
"0000125746" "00001847" "70" "3259" "0" "3259" "0" "c.3259G>A" "r.(?)" "p.(Glu1087Lys)" "22"
"0000125747" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000125748" "00001847" "50" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000125749" "00001847" "70" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.(?)" "38i"
"0000125750" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000125751" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.?" "40i"
"0000125752" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000125753" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.?" "40i"
"0000125754" "00001847" "70" "3364" "0" "3364" "0" "c.3364G>A" "r.(?)" "p.(Glu1122Lys)" "23"
"0000125755" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000125756" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000125757" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000125758" "00001847" "70" "5056" "0" "5056" "0" "c.5056G>A" "r.(?)" "p.(Val1686Met)" "36"
"0000125759" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000125760" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000125761" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000125762" "00001847" "70" "6515" "0" "6515" "0" "c.6515A>G" "r.(?)" "p.(Lys2172Arg)" "48"
"0000125763" "00001847" "90" "4222" "0" "4222" "0" "c.4222T>C" "r.(?)" "p.(Trp1408Arg)" "28"
"0000125764" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.?" "40i"
"0000125765" "00001847" "70" "4297" "0" "4297" "0" "c.4297G>A" "r.(?)" "p.(Val1433Ile)" "29"
"0000125766" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000125767" "00001847" "70" "4537" "0" "4537" "0" "c.4537dup" "r.(?)" "p.(Gln1513Profs*42)" "30"
"0000125768" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000125769" "00001847" "70" "4537" "0" "4537" "0" "c.4537dup" "r.(?)" "p.(Gln1513Profs*42)" "30"
"0000125770" "00001847" "90" "5114" "0" "5114" "0" "c.5114G>A" "r.(?)" "p.(Arg1705Gln)" "36"
"0000125771" "00001847" "70" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" "31"
"0000125772" "00001847" "70" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" "44"
"0000125773" "00001847" "70" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" "31"
"0000125774" "00001847" "70" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" "44"
"0000125775" "00001847" "70" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" "31"
"0000125776" "00001847" "70" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" "44"
"0000125777" "00001847" "70" "4793" "0" "4793" "0" "c.4793C>A" "r.(?)" "p.(Ala1598Asp)" "34"
"0000125778" "00001847" "70" "4919" "0" "4919" "0" "c.4919G>A" "r.(?)" "p.(Arg1640Gln)" "35"
"0000125779" "00001847" "70" "4793" "0" "4793" "0" "c.4793C>A" "r.(?)" "p.(Ala1598Asp)" "34"
"0000125780" "00001847" "70" "4919" "0" "4919" "0" "c.4919G>A" "r.(?)" "p.(Arg1640Gln)" "35"
"0000125781" "00001847" "70" "4919" "0" "4919" "0" "c.4919G>A" "r.(?)" "p.(Arg1640Gln)" "35"
"0000125782" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000125783" "00001847" "70" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.(?)" "38i"
"0000125784" "00001847" "50" "3261" "0" "3261" "0" "c.3261A>C" "r.(?)" "p.(Glu1087Asp)" "22"
"0000125785" "00001847" "90" "5819" "0" "5819" "0" "c.5819T>C" "r.(?)" "p.(Leu1940Pro)" "41"
"0000125786" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.?" "40i"
"0000125787" "00001847" "90" "5819" "0" "5819" "0" "c.5819T>C" "r.(?)" "p.(Leu1940Pro)" "41"
"0000125788" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.?" "40i"
"0000125789" "00001847" "90" "5819" "0" "5819" "0" "c.5819T>C" "r.(?)" "p.(Leu1940Pro)" "41"
"0000125790" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.?" "40i"
"0000125791" "00001847" "90" "5819" "0" "5819" "0" "c.5819T>C" "r.(?)" "p.(Leu1940Pro)" "41"
"0000125792" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.?" "40i"
"0000125793" "00001847" "70" "5819" "0" "5819" "0" "c.5819T>C" "r.(?)" "p.(Leu1940Pro)" "41"
"0000125794" "00001847" "70" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000125795" "00001847" "90" "5881" "0" "5881" "0" "c.5881G>A" "r.(?)" "p.(Gly1961Arg)" "42"
"0000125796" "00001847" "70" "5222" "0" "5232" "0" "c.5222_5232del" "r.(?)" "p.(Leu1741Hisfs*42)" "37"
"0000125797" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000125798" "00001847" "70" "2005" "0" "2006" "0" "c.2005_2006del" "r.(?)" "p.(Met669Aspfs*96)" "14"
"0000125799" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000125800" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.[(Gly863Ala, Gly863del)]" "17"
"0000125801" "00001847" "70" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" "44"
"0000125802" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000125803" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.[(Gly863Ala, Gly863del)]" "17"
"0000125804" "00001847" "70" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" "44"
"0000125805" "00001847" "70" "4253" "4" "4253" "4" "c.4253+4C>T" "r.spl?" "p.(?)" "28i"
"0000125806" "00001847" "50" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000125807" "00001847" "50" "6729" "21" "6729" "21" "c.6729+21C>T" "r.spl" "p.?" "48i"
"0000125811" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000126921" "00001847" "50" "1268" "0" "1268" "0" "c.1268A>C" "r.(?)" "p.(His423Pro)" "10"
"0000126922" "00001847" "50" "2588" "0" "2588" "0" "c.2588G>C" "r.spl?" "p.(Gly863Ala)" "17"
"0000126923" "00001847" "70" "3583" "0" "3584" "0" "c.3583_3584insNN" "r.(?)" "p.(Leu1195ArgfsTer2)" "24"
"0000126924" "00001847" "77" "1269" "0" "2587" "0" "c.(1269_2587)delN[?]" "r.?" "p.?" "10_16i"
"0000126925" "00001847" "50" "1" "0" "3" "0" "c.1_3delinsGTC" "r.(?)" "p.(Met1?)" "1"
"0000126926" "00001847" "70" "1" "0" "6822" "0" "c.-104_*400{0}" "r.0" "p.0" "_1_50_"
"0000126927" "00001847" "70" "1007" "0" "1007" "0" "c.1007C>G" "r.(1007c>g)" "p.(Ser336Cys)" "8"
"0000126928" "00001847" "50" "1009" "0" "1009" "0" "c.1009T>C" "r.(1009u>c)" "p.(Phe337Leu)" "8"
"0000126929" "00001847" "90" "101" "0" "106" "0" "c.101_106del" "r.(101_106del)" "p.(Ser34_Leu35del)" "2"
"0000126930" "00001847" "90" "1015" "0" "1015" "0" "c.1015T>G" "r.(1015u>g)" "p.(Trp339Gly)" "8"
"0000126931" "00001847" "90" "1018" "0" "1018" "0" "c.1018T>G" "r.(1018u>g)" "p.(Tyr340Asp)" "8"
"0000126932" "00001847" "90" "1022" "0" "1022" "0" "c.1022A>G" "r.(1022a>g)" "p.(Glu341Gly)" "8"
"0000126933" "00001847" "90" "1025" "0" "1038" "0" "c.1025_1038del" "r.(1025_1038del)" "p.(Asp342GlyfsTer6)" "8"
"0000126934" "00001847" "90" "1029" "0" "1029" "0" "c.1029dup" "r.(1029dup)" "p.(Asn344Ter)" "8"
"0000126935" "00001847" "90" "1035" "0" "1035" "0" "c.1035T>G" "r.(1035u>g)" "p.(Tyr345Ter)" "8"
"0000126936" "00001847" "70" "1037" "0" "1037" "0" "c.1037A>C" "r.(1037a>c)" "p.(Lys346Thr)" "8"
"0000126937" "00001847" "90" "1066" "0" "1066" "0" "c.1066A>T" "r.(1066a>u)" "p.(Lys356Ter)" "8"
"0000126938" "00001847" "90" "1086" "0" "1086" "0" "c.1086T>A" "r.(1086u>a)" "p.(Tyr362Ter)" "8"
"0000126939" "00001847" "90" "108" "0" "108" "0" "c.108del" "r.(108del)" "p.(Leu37TrpfsTer3)" "2"
"0000126940" "00001847" "90" "1099" "1" "1099" "1" "c.1099+1G>A" "r.spl" "p.?" "8i"
"0000126941" "00001847" "90" "1100" "-1" "1100" "-1" "c.1100-1G>A" "r.spl" "p.?" "8i"
"0000126942" "00001847" "50" "1100" "-6" "1100" "-6" "c.1100-6T>A" "r.1099_1100insgcag" "p.Thr367SerfsTer6" "8i"
"0000126943" "00001847" "50" "1140" "0" "1140" "0" "c.1140T>A" "r.(1140u>a)" "p.(Asn380Lys)" "9"
"0000126944" "00001847" "50" "1150" "0" "1150" "0" "c.1150A>G" "r.(1150a>g)" "p.(Lys384Glu)" "9"
"0000126945" "00001847" "70" "1204" "0" "1204" "0" "c.1204C>G" "r.(1204c>g)" "p.(Pro402Ala)" "9"
"0000126946" "00001847" "70" "1208" "0" "1208" "0" "c.1208A>T" "r.(1208a>u)" "p.(Asp403Val)" "9"
"0000126947" "00001847" "50" "1220" "0" "1220" "0" "c.1220C>T" "r.(1220c>u)" "p.(Ala407Val)" "9"
"0000126948" "00001847" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.1222c>u" "p.(Arg408Ter)" "9"
"0000126949" "00001847" "90" "1225" "0" "1225" "0" "c.1225del" "r.(1225del)" "p.(Arg409GlyfsTer3)" "9"
"0000126950" "00001847" "90" "122" "0" "122" "0" "c.122G>A" "r.(122g>a)" "p.(Trp41Ter)" "2"
"0000126951" "00001847" "50" "1231" "0" "1233" "0" "c.1231_1233dup" "r.(1231_1233dup)" "p.(Leu411dup)" "9"
"0000126952" "00001847" "90" "1239" "1" "1239" "1" "c.1239+1G>C" "r.spl" "p.?" "9i"
"0000126953" "00001847" "90" "123" "0" "123" "0" "c.123G>A" "r.(123g>a)" "p.(Trp41Ter)" "2"
"0000126954" "00001847" "70" "1240" "-2" "1240" "-2" "c.1240-2A>G" "r.spl" "p.?" "9i"
"0000126955" "00001847" "70" "1245" "0" "1245" "0" "c.1245C>A" "r.(1245c>a)" "p.(Asn415Lys)" "10"
"0000126956" "00001847" "70" "1253" "0" "1253" "0" "c.1253T>C" "r.(1253u>c)" "p.(Phe418Ser)" "10"
"0000126957" "00001847" "30" "1268" "0" "1268" "0" "c.1268A>G" "r.(1268a>g)" "p.(His423Arg)" "10"
"0000126958" "00001847" "50" "1271" "0" "1271" "0" "c.1271T>C" "r.(1271u>c)" "p.(Val424Ala)" "10"
"0000126959" "00001847" "90" "1293" "0" "1293" "0" "c.1293G>A" "r.(1293g>a)" "p.(Trp431Ter)" "10"
"0000126960" "00001847" "50" "1294" "0" "1294" "0" "c.1294G>A" "r.(1294g>a)" "p.(Glu432Lys)" "10"
"0000126961" "00001847" "90" "1302" "0" "1302" "0" "c.1302del" "r.(1302del)" "p.(Gln437ArgfsTer12)" "10"
"0000126962" "00001847" "90" "1309" "0" "1309" "0" "c.1309del" "r.(1309del)" "p.(Gln437ArgfsTer12)" "10"
"0000126963" "00001847" "90" "1317" "0" "1317" "0" "c.1317G>A" "r.(1317g>a)" "p.(Trp439Ter)" "10"
"0000126964" "00001847" "50" "1319" "0" "1319" "0" "c.1319A>G" "r.(1319a>g)" "p.(Tyr440Cys)" "10"
"0000126965" "00001847" "70" "1335" "0" "1335" "0" "c.1335C>G" "r.(1335c>g)" "p.(Ser445Arg)" "10"
"0000126966" "00001847" "90" "1343" "0" "1343" "0" "c.1343T>A" "r.(1343u>a)" "p.(Met448Lys)" "10"
"0000126967" "00001847" "90" "1344" "0" "1344" "0" "c.1344del" "r.(1344del)" "p.(Met448IlefsTer3)" "10"
"0000126968" "00001847" "50" "1363" "0" "1363" "0" "c.1363C>A" "r.(1363c>a)" "p.(Leu455Met)" "11"
"0000126969" "00001847" "90" "1375" "0" "1375" "0" "c.1375del" "r.(1375del)" "p.(Thr459GlnfsTer2)" "11"
"0000126970" "00001847" "90" "1381" "0" "1381" "0" "c.1381A>T" "r.(1381a>u)" "p.(Lys461Ter)" "11"
"0000126971" "00001847" "90" "1390" "0" "1391" "0" "c.1390_1391del" "r.(1390_1391del)" "p.(Leu464GlufsTer2)" "11"
"0000126972" "00001847" "50" "1411" "0" "1411" "0" "c.1411G>A" "r.(1411g>a)" "p.(Glu471Lys)" "11"
"0000126973" "00001847" "50" "1494" "0" "1494" "0" "c.1494C>A" "r.(1494c>a)" "p.(Asp498Glu)" "11"
"0000126974" "00001847" "90" "1513" "0" "1517" "0" "c.1513_1517del" "r.(1513_1517del)" "p.(Ile505Ter)" "11"
"0000126975" "00001847" "70" "1519" "0" "1519" "0" "c.1519G>T" "r.(1519g>u)" "p.(Asp507Tyr)" "11"
"0000126976" "00001847" "50" "1522" "0" "1522" "0" "c.1522C>T" "r.(1522c>u)" "p.(Arg508Cys)" "11"
"0000126977" "00001847" "70" "1529" "0" "1529" "0" "c.1529T>G" "r.(1529u>g)" "p.(Leu510Arg)" "11"
"0000126978" "00001847" "70" "1531" "0" "1531" "0" "c.1531C>T" "r.(1531c>u)" "p.(Arg511Cys)" "11"
"0000126979" "00001847" "50" "1532" "0" "1532" "0" "c.1532G>A" "r.(1532g>a)" "p.(Arg511His)" "11"
"0000126980" "00001847" "70" "1554" "1" "1554" "1" "c.1554+1G>C" "r.spl" "p.?" "11i"
"0000126981" "00001847" "90" "1561" "0" "1561" "0" "c.1561del" "r.(1561del)" "p.(Val521SerfsTer47)" "12"
"0000126982" "00001847" "70" "1574" "0" "1574" "0" "c.1574T>G" "r.(1574u>g)" "p.(Phe525Cys)" "12"
"0000126983" "00001847" "50" "1577" "0" "1577" "0" "c.1577A>C" "r.(1577a>c)" "p.(Glu526Ala)" "12"
"0000126984" "00001847" "50" "1586" "0" "1586" "0" "c.1586A>G" "r.(1586a>g)" "p.(Asn529Ser)" "12"
"0000126985" "00001847" "50" "1592" "0" "1592" "0" "c.1592A>G" "r.(1592a>g)" "p.(Glu531Gly)" "12"
"0000126986" "00001847" "70" "160" "1" "160" "1" "c.160+1G>A" "r.spl" "p.?" "2i"
"0000126987" "00001847" "90" "160" "2" "160" "2" "c.160+2T>C" "r.spl?" "p.?" "2i"
"0000126988" "00001847" "70" "160" "5" "160" "5" "c.160+5G>C" "r.[67_160del,161_302delins161+1_161+14,=]" "p.[Ile23AlafsTer24,His55AsnfsTer63,=]" "2i"
"0000126989" "00001847" "90" "1609" "0" "1609" "0" "c.1609C>T" "r.(1609c>u)" "p.(Arg537Cys)" "12"
"0000126990" "00001847" "70" "160" "0" "160" "0" "c.160T>G" "r.(160u>g)" "p.(Cys54Gly)" "2"
"0000126991" "00001847" "90" "161" "-1" "161" "-1" "c.161-1G>A" "r.spl" "p.?" "2i"
"0000126992" "00001847" "90" "161" "-2" "161" "-2" "c.161-2A>G" "r.spl" "p.?" "2i"
"0000126993" "00001847" "50" "1613" "0" "1613" "0" "c.1613C>A" "r.(1613c>a)" "p.(Ala538Asp)" "12"
"0000126994" "00001847" "50" "1613" "0" "1613" "0" "c.1613C>T" "r.(1613c>u)" "p.(Ala538Val)" "12"
"0000126995" "00001847" "90" "161" "0" "161" "0" "c.161G>A" "r.[161_302del,161g>a]" "p.[Cys54SerfsTer14,Cys54Tyr]" "3"
"0000126996" "00001847" "90" "161" "0" "161" "0" "c.161G>T" "r.161_302del" "p.Cys54SerfsTer14" "3"
"0000126997" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(1622u>c)" "p.(Leu541Pro)" "12"
"0000126998" "00001847" "50" "1645" "0" "1645" "0" "c.1645G>C" "r.(1645g>c)" "p.(Ala549Pro)" "12"
"0000126999" "00001847" "90" "1648" "0" "1648" "0" "c.1648G>A" "r.(1648g>a)" "p.(Gly550Arg)" "12"
"0000127000" "00001847" "90" "164" "0" "164" "0" "c.164A>G" "r.(164a>g)" "p.(His55Arg)" "3"
"0000127001" "00001847" "50" "1654" "0" "1654" "0" "c.1654G>A" "r.(1654g>a)" "p.(Val552Ile)" "12"
"0000127002" "00001847" "70" "1659" "0" "1659" "0" "c.1659C>G" "r.(1659c>g)" "p.(Phe553Leu)" "12"
"0000127003" "00001847" "70" "167" "0" "167" "0" "c.167T>C" "r.(167u>c)" "p.(Phe56Ser)" "3"
"0000127004" "00001847" "50" "1699" "0" "1699" "0" "c.1699G>A" "r.(1699g>a)" "p.(Val567Met)" "12"
"0000127005" "00001847" "90" "1714" "0" "1714" "0" "c.1714C>T" "r.(1714c>u)" "p.(Arg572Ter)" "12"
"0000127006" "00001847" "90" "1715" "0" "1715" "0" "c.1715G>C" "r.(1715g>c)" "p.(Arg572Pro)" "12"
"0000127007" "00001847" "90" "1722" "0" "1723" "0" "c.1722_1723del" "r.(1722_1723del)" "p.(Ile575ArgfsTer8)" "12"
"0000127008" "00001847" "70" "1726" "0" "1726" "0" "c.1726G>C" "r.(1726g>c)" "p.(Asp576His)" "12"
"0000127009" "00001847" "90" "1748" "0" "1748" "0" "c.1748A>T" "r.(1748a>u)" "p.(Lys583Met)" "12"
"0000127010" "00001847" "70" "1749" "0" "1749" "0" "c.1749G>C" "r.(1749g>c)" "p.(Lys583Asn)" "12"
"0000127011" "00001847" "50" "174" "0" "174" "0" "c.174C>G" "r.(174c>g)" "p.(Asn58Lys)" "3"
"0000127012" "00001847" "90" "1751" "0" "1753" "0" "c.1751_1753delinsAT" "r.(1751_1753delinsau)" "p.(Ile584AsnfsTer65)" "12"
"0000127013" "00001847" "50" "175" "0" "175" "0" "c.175A>G" "r.(175a>g)" "p.(Lys59Glu)" "3"
"0000127014" "00001847" "90" "1760" "1" "1760" "1" "c.1760+1G>T" "r.spl" "p.?" "12i"
"0000127015" "00001847" "90" "1760" "2" "1760" "2" "c.1760+2T>G" "r.spl" "p.?" "12i"
"0000127016" "00001847" "90" "1761" "-1" "1937" "1" "c.(1760+1_1761-1)_(1937+1_1938-1)del" "r.(1761_1937del)" "p.(Arg587_Asp645del)" "12i_13i"
"0000127017" "00001847" "90" "1766" "0" "1766" "0" "c.1766G>A" "r.(1766g>a)" "p.(Trp589Ter)" "13"
"0000127018" "00001847" "50" "1789" "0" "1789" "0" "c.1789C>T" "r.(1789c>u)" "p.(Pro597Ser)" "13"
"0000127019" "00001847" "70" "178" "0" "178" "0" "c.178G>A" "r.(178g>a)" "p.(Ala60Thr)" "3"
"0000127020" "00001847" "50" "1792" "0" "1792" "0" "c.1792G>A" "r.(1792g>a)" "p.(Val598Met)" "13"
"0000127021" "00001847" "70" "1798" "0" "1798" "0" "c.1798G>T" "r.(1798g>u)" "p.(Asp600Tyr)" "13"
"0000127022" "00001847" "90" "179" "0" "179" "0" "c.179C>T" "r.(179c>u)" "p.(Ala60Val)" "3"
"0000127023" "00001847" "50" "1800" "0" "1800" "0" "c.1800T>G" "r.(1800u>g)" "p.(Asp600Glu)" "13"
"0000127024" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(1804c>u)" "p.(Arg602Trp)" "13"
"0000127025" "00001847" "90" "1805" "0" "1805" "0" "c.1805G>A" "r.(1805g>a)" "p.(Arg602Gln)" "13"
"0000127026" "00001847" "90" "180" "0" "180" "0" "c.180del" "r.(180del)" "p.(Met61CysfsTer17)" "3"
"0000127027" "00001847" "90" "1819" "0" "1819" "0" "c.1819G>A" "r.(1819g>a)" "p.(Gly607Arg)" "13"
"0000127028" "00001847" "90" "1819" "0" "1819" "0" "c.1819G>C" "r.(1819g>c)" "p.(Gly607Arg)" "13"
"0000127029" "00001847" "50" "1819" "0" "1819" "0" "c.1819G>T" "r.(1819g>u)" "p.(Gly607Trp)" "13"
"0000127030" "00001847" "90" "1822" "0" "1822" "0" "c.1822T>A" "r.(1822u>a)" "p.(Phe608Ile)" "13"
"0000127031" "00001847" "70" "1822" "0" "1822" "0" "c.1822T>C" "r.(1822u>c)" "p.(Phe608Leu)" "13"
"0000127032" "00001847" "50" "1823" "0" "1823" "0" "c.1823T>A" "r.(1823u>a)" "p.(Phe608Tyr)" "13"
"0000127033" "00001847" "70" "1832" "0" "1832" "0" "c.1832T>C" "r.(1832u>c)" "p.(Leu611Pro)" "13"
"0000127034" "00001847" "90" "1834" "0" "1834" "0" "c.1834C>T" "r.(1834c>u)" "p.(Gln612Ter)" "13"
"0000127035" "00001847" "70" "1846" "0" "1846" "0" "c.1846G>A" "r.(1846g>a)" "p.(Glu616Lys)" "13"
"0000127036" "00001847" "70" "184" "0" "184" "0" "c.184C>T" "r.(184c>u)" "p.(Pro62Ser)" "3"
"0000127037" "00001847" "70" "1852" "0" "1852" "0" "c.1852G>A" "r.(1852g>a)" "p.(Gly618Arg)" "13"
"0000127038" "00001847" "70" "1853" "0" "1853" "0" "c.1853G>A" "r.(1853g>a)" "p.(Gly618Glu)" "13"
"0000127039" "00001847" "90" "1865" "0" "1865" "0" "c.1865del" "r.(1865del)" "p.(Ser622ThrfsTer27)" "13"
"0000127040" "00001847" "70" "1868" "0" "1868" "0" "c.1868A>G" "r.(1868a>g)" "p.(Gln623Arg)" "13"
"0000127041" "00001847" "90" "1894" "0" "1894" "0" "c.1894del" "r.(1894del)" "p.(Ile632SerfsTer17)" "13"
"0000127042" "00001847" "70" "1903" "0" "1903" "0" "c.1903C>A" "r.(1903c>a)" "p.(Gln635Lys)" "13"
"0000127043" "00001847" "90" "1903" "0" "1903" "0" "c.1903C>T" "r.(1903c>u)" "p.(Gln635Ter)" "13"
"0000127044" "00001847" "90" "1906" "0" "1906" "0" "c.1906C>T" "r.(1906c>u)" "p.(Gln636Ter)" "13"
"0000127045" "00001847" "70" "1908" "0" "1908" "0" "c.1908G>T" "r.(1908g>u)" "p.(Gln636His)" "13"
"0000127046" "00001847" "70" "1919" "0" "1919" "0" "c.1919C>T" "r.(1919c>u)" "p.(Pro640Leu)" "13"
"0000127047" "00001847" "50" "191" "0" "191" "0" "c.191C>T" "r.(191c>u)" "p.(Ala64Val)" "3"
"0000127048" "00001847" "50" "1922" "0" "1922" "0" "c.1922G>C" "r.(1922g>c)" "p.(Cys641Ser)" "13"
"0000127049" "00001847" "70" "1924" "0" "1924" "0" "c.1924T>A" "r.(1924u>a)" "p.(Phe642Ile)" "13"
"0000127050" "00001847" "50" "1924" "0" "1924" "0" "c.1924T>C" "r.(1924u>c)" "p.(Phe642Leu)" "13"
"0000127051" "00001847" "30" "1927" "0" "1927" "0" "c.1927G>A" "r.(1927g>a)" "p.(Val643Met)" "13"
"0000127052" "00001847" "50" "1928" "0" "1928" "0" "c.1928T>G" "r.(1928u>g)" "p.(Val643Gly)" "13"
"0000127053" "00001847" "90" "1933" "0" "1933" "0" "c.1933G>A" "r.(1933g>a)" "p.(Asp645Asn)" "13"
"0000127054" "00001847" "90" "1937" "1" "1937" "1" "c.1937+1G>A" "r.spl" "p.?" "13i"
"0000127055" "00001847" "50" "1937" "2" "1937" "2" "c.1937+2T>C" "r.spl?" "p.?" "13i"
"0000127056" "00001847" "90" "1938" "-1" "1938" "-1" "c.1938-1G>A" "r.spl" "p.?" "13i"
"0000127057" "00001847" "90" "1938" "-2" "1938" "-2" "c.1938-2A>G" "r.spl" "p.?" "13i"
"0000127058" "00001847" "90" "194" "0" "194" "0" "c.194G>A" "r.(194g>a)" "p.(Gly65Glu)" "3"
"0000127059" "00001847" "50" "194" "0" "194" "0" "c.194G>C" "r.(194g>c)" "p.(Gly65Ala)" "3"
"0000127060" "00001847" "50" "1952" "0" "1952" "0" "c.1952T>G" "r.(1952u>g)" "p.(Leu651Arg)" "14"
"0000127061" "00001847" "90" "1957" "0" "1957" "0" "c.1957C>T" "r.(1957c>u)" "p.(Arg653Cys)" "14"
"0000127062" "00001847" "90" "1958" "0" "1958" "0" "c.1958G>A" "r.(1958g>a)" "p.(Arg653His)" "14"
"0000127063" "00001847" "50" "1964" "0" "1964" "0" "c.1964T>G" "r.(1964u>g)" "p.(Phe655Cys)" "14"
"0000127064" "00001847" "50" "1967" "0" "1967" "0" "c.1967C>T" "r.(1967c>u)" "p.(Pro656Leu)" "14"
"0000127065" "00001847" "50" "1977" "0" "1977" "0" "c.1977G>A" "r.(1977g>a)" "p.(Met659Ile)" "14"
"0000127066" "00001847" "90" "1984" "0" "1984" "0" "c.1984dup" "r.(1984dup)" "p.(Ala662GlyfsTer104)" "14"
"0000127067" "00001847" "90" "1988" "0" "1988" "0" "c.1988G>A" "r.(1988g>a)" "p.(Trp663Ter)" "14"
"0000127068" "00001847" "50" "1989" "0" "1989" "0" "c.1989G>T" "r.(1989g>u)" "p.(Trp663Cys)" "14"
"0000127069" "00001847" "90" "1995" "0" "1995" "0" "c.1995C>A" "r.(1995c>a)" "p.(Tyr665Ter)" "14"
"0000127070" "00001847" "70" "1" "0" "1" "0" "c.1A>G" "r.(1a>g)" "p.(Met1?)" "1"
"0000127071" "00001847" "90" "2005" "0" "2006" "0" "c.2005_2006del" "r.(2005_2006del)" "p.(Met669AspfsTer96)" "14"
"0000127072" "00001847" "90" "2023" "0" "2023" "0" "c.2023G>A" "r.(2023g>a)" "p.(Val675Ile)" "14"
"0000127073" "00001847" "70" "2034" "0" "2034" "0" "c.2034G>T" "r.(2034g>u)" "p.(Lys678Asn)" "14"
"0000127074" "00001847" "90" "203" "0" "203" "0" "c.203C>G" "r.(203c>g)" "p.(Pro68Arg)" "3"
"0000127075" "00001847" "90" "203" "0" "203" "0" "c.203C>T" "r.(203c>u)" "p.(Pro68Leu)" "3"
"0000127076" "00001847" "90" "2041" "0" "2041" "0" "c.2041C>T" "r.(2041c>u)" "p.(Arg681Ter)" "14"
"0000127077" "00001847" "50" "2042" "0" "2042" "0" "c.2042G>A" "r.(2042g>a)" "p.(Arg681Gln)" "14"
"0000127078" "00001847" "70" "2057" "0" "2057" "0" "c.2057T>C" "r.(2057u>c)" "p.(Leu686Ser)" "14"
"0000127079" "00001847" "90" "2069" "0" "2069" "0" "c.2069del" "r.(2069del)" "p.(Gly690ValfsTer6)" "14"
"0000127080" "00001847" "70" "2069" "0" "2069" "0" "c.2069G>A" "r.(2069g>a)" "p.(Gly690Asp)" "14"
"0000127081" "00001847" "90" "2069" "0" "2069" "0" "c.2069G>T" "r.(2069g>u)" "p.(Gly690Val)" "14"
"0000127082" "00001847" "90" "206" "0" "206" "0" "c.206G>A" "r.(206g>a)" "p.(Trp69Ter)" "3"
"0000127083" "00001847" "90" "2090" "0" "2090" "0" "c.2090G>A" "r.(2090g>a)" "p.(Trp697Ter)" "14"
"0000127084" "00001847" "90" "2099" "0" "2099" "0" "c.2099G>A" "r.(2099g>a)" "p.(Trp700Ter)" "14"
"0000127085" "00001847" "50" "2128" "0" "2128" "0" "c.2128A>G" "r.(2128a>g)" "p.(Met710Val)" "14"
"0000127086" "00001847" "50" "2147" "0" "2147" "0" "c.2147C>T" "r.(2147c>u)" "p.(Thr716Met)" "14"
"0000127087" "00001847" "90" "214" "0" "214" "0" "c.214G>A" "r.(214g>a)" "p.(Gly72Arg)" "3"
"0000127088" "00001847" "90" "2160" "1" "2160" "1" "c.2160+1G>C" "r.spl" "p.?" "14i"
"0000127089" "00001847" "90" "2160" "1" "2160" "1" "c.2160+1G>T" "r.spl" "p.?" "14i"
"0000127090" "00001847" "70" "2161" "-8" "2161" "-8" "c.2161-8G>A" "r.2161_2382del" "p.His721_Val794del" "14i"
"0000127091" "00001847" "50" "2183" "0" "2194" "0" "c.2183_2194del" "r.(2183_2194del)" "p.(Ser728_Phe731del)" "15"
"0000127092" "00001847" "90" "2239" "0" "2239" "0" "c.2239del" "r.(2239del)" "p.(Leu747CysfsTer40)" "15"
"0000127093" "00001847" "90" "223" "0" "223" "0" "c.223T>G" "r.(223u>g)" "p.(Cys75Gly)" "3"
"0000127094" "00001847" "70" "2243" "0" "2243" "0" "c.2243G>A" "r.(2243g>a)" "p.(Cys748Tyr)" "15"
"0000127095" "00001847" "70" "2285" "0" "2285" "0" "c.2285C>A" "r.(2285c>a)" "p.(Ala762Glu)" "15"
"0000127096" "00001847" "70" "2291" "0" "2305" "0" "c.2291_2305del" "r.(2291_2305del)" "p.(Cys764_Ile768del)" "15"
"0000127097" "00001847" "50" "2291" "0" "2291" "0" "c.2291G>A" "r.(2291g>a)" "p.(Cys764Tyr)" "15"
"0000127098" "00001847" "70" "2292" "0" "2293" "0" "c.2292_2293delinsC" "r.(2292_2293delinsc)" "p.(Ser765ValfsTer22)" "15"
"0000127099" "00001847" "90" "2292" "0" "2295" "0" "c.2292_2295delinsAGG" "r.(2292_2295delinsagg)" "p.(Cys764Ter)" "15"
"0000127100" "00001847" "50" "2294" "0" "2294" "0" "c.2294G>A" "r.(2294g>a)" "p.(Ser765Asn)" "15"
"0000127101" "00001847" "50" "2295" "0" "2295" "0" "c.2295T>G" "r.(2295u>g)" "p.(Ser765Arg)" "15"
"0000127102" "00001847" "50" "2297" "0" "2297" "0" "c.2297G>T" "r.(2297g>u)" "p.(Gly766Val)" "15"
"0000127103" "00001847" "90" "22" "0" "22" "0" "c.22C>T" "r.(22c>u)" "p.(Gln8Ter)" "1"
"0000127104" "00001847" "90" "2300" "0" "2300" "0" "c.2300T>A" "r.(2300u>a)" "p.(Val767Asp)" "15"
"0000127105" "00001847" "50" "230" "0" "230" "0" "c.230T>A" "r.(230u>a)" "p.(Val77Glu)" "3"
"0000127106" "00001847" "90" "2337" "0" "2337" "0" "c.2337C>A" "r.(2337c>a)" "p.(Cys779Ter)" "15"
"0000127107" "00001847" "90" "2345" "0" "2345" "0" "c.2345G>A" "r.(2345g>a)" "p.(Trp782Ter)" "15"
"0000127108" "00001847" "70" "2382" "1" "2382" "1" "c.2382+1G>A" "r.spl" "p.?" "15i"
"0000127109" "00001847" "50" "2382" "5" "2382" "5" "c.2382+5G>C" "r.[(=,2161_2382del)]" "p.[=,His721_Val794del]" "15i"
"0000127110" "00001847" "90" "2385" "0" "2400" "0" "c.2385_2400del" "r.(2385_2400del)" "p.(Ser795ArgfsTer43)" "16"
"0000127111" "00001847" "30" "2385" "0" "2385" "0" "c.2385C>T" "r.(2385c>u)" "p.(Ser795=)" "16"
"0000127112" "00001847" "70" "2390" "0" "2390" "0" "c.2390T>C" "r.(2390u>c)" "p.(Leu797Pro)" "16"
"0000127113" "00001847" "90" "240" "0" "241" "0" "c.240_241del" "r.(240_241del)" "p.(Cys81PhefsTer17)" "3"
"0000127114" "00001847" "90" "2401" "0" "2401" "0" "c.2401G>A" "r.(2401g>a)" "p.(Ala801Thr)" "16"
"0000127115" "00001847" "90" "2408" "0" "2408" "0" "c.2408del" "r.(2408del)" "p.(Gly803AspfsTer40)" "16"
"0000127116" "00001847" "90" "2424" "0" "2424" "0" "c.2424C>G" "r.(2424c>g)" "p.(Tyr808Ter)" "16"
"0000127117" "00001847" "70" "2437" "0" "2437" "0" "c.2437G>A" "r.(2437g>a)" "p.(Glu813Lys)" "16"
"0000127118" "00001847" "90" "2453" "0" "2453" "0" "c.2453G>A" "r.(2453g>a)" "p.(Gly818Glu)" "16"
"0000127119" "00001847" "50" "2453" "0" "2453" "0" "c.2453G>T" "r.(2453g>u)" "p.(Gly818Val)" "16"
"0000127120" "00001847" "90" "2461" "0" "2461" "0" "c.2461T>A" "r.(2461u>a)" "p.(Trp821Arg)" "16"
"0000127121" "00001847" "90" "247" "0" "250" "0" "c.247_250del" "r.(247_250del)" "p.(Gln83AlafsTer31)" "3"
"0000127122" "00001847" "90" "247" "0" "250" "0" "c.247_250dup" "r.(247_250dup)" "p.(Ser84ThrfsTer16)" "3"
"0000127123" "00001847" "50" "2470" "0" "2470" "0" "c.2470A>G" "r.(2470a>g)" "p.(Ile824Val)" "16"
"0000127124" "00001847" "50" "2471" "0" "2471" "0" "c.2471T>C" "r.(2471u>c)" "p.(Ile824Thr)" "16"
"0000127125" "00001847" "50" "2486" "0" "2486" "0" "c.2486C>T" "r.(2486c>u)" "p.(Thr829Met)" "16"
"0000127126" "00001847" "90" "2510" "0" "2510" "0" "c.2510del" "r.(2510del)" "p.(Leu837ArgfsTer6)" "16"
"0000127127" "00001847" "50" "2510" "0" "2510" "0" "c.2510T>C" "r.(2510u>c)" "p.(Leu837Pro)" "16"
"0000127128" "00001847" "50" "2519" "0" "2519" "0" "c.2519T>G" "r.(2519u>g)" "p.(Met840Arg)" "16"
"0000127129" "00001847" "90" "2521" "0" "2521" "0" "c.2521C>T" "r.(2521c>u)" "p.(Gln841Ter)" "16"
"0000127130" "00001847" "70" "2531" "0" "2531" "0" "c.2531T>G" "r.(2531u>g)" "p.(Leu844Arg)" "16"
"0000127131" "00001847" "70" "2536" "0" "2536" "0" "c.2536G>C" "r.(2536g>c)" "p.(Asp846His)" "16"
"0000127132" "00001847" "50" "2543" "0" "2543" "0" "c.2543C>A" "r.(2543c>a)" "p.(Ala848Asp)" "16"
"0000127133" "00001847" "50" "2546" "0" "2546" "0" "c.2546T>C" "r.(2546u>c)" "p.(Val849Ala)" "16"
"0000127134" "00001847" "70" "2549" "0" "2549" "0" "c.2549A>G" "r.(2549a>g)" "p.(Tyr850Cys)" "16"
"0000127135" "00001847" "70" "2552" "0" "2552" "0" "c.2552G>A" "r.(2552g>a)" "p.(Gly851Asp)" "16"
"0000127136" "00001847" "50" "2560" "0" "2560" "0" "c.2560G>A" "r.(2560g>a)" "p.(Ala854Thr)" "16"
"0000127137" "00001847" "90" "2564" "0" "2564" "0" "c.2564G>A" "r.(2564g>a)" "p.(Trp855Ter)" "16"
"0000127138" "00001847" "90" "2565" "0" "2572" "0" "c.2565_2572del" "r.(2565_2572del)" "p.(Trp855Ter)" "16"
"0000127139" "00001847" "90" "2565" "0" "2565" "0" "c.2565G>A" "r.(2565g>a)" "p.(Trp855Ter)" "16"
"0000127140" "00001847" "90" "2568" "0" "2568" "0" "c.2568C>A" "r.(2568c>a)" "p.(Tyr856Ter)" "16"
"0000127141" "00001847" "70" "2571" "0" "2571" "0" "c.2571del" "r.(2571del)" "p.(Asp858IlefsTer43)" "16"
"0000127142" "00001847" "90" "2587" "2" "2587" "2" "c.2587+2T>C" "r.spl" "p.?" "16i"
"0000127143" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000127144" "00001847" "70" "2608" "0" "2608" "0" "c.2608C>T" "r.(2608c>u)" "p.(Pro870Ser)" "17"
"0000127145" "00001847" "70" "2609" "0" "2609" "0" "c.2609C>T" "r.(2609c>u)" "p.(Pro870Leu)" "17"
"0000127146" "00001847" "90" "2616" "0" "2617" "0" "c.2616_2617del" "r.(2616_2617del)" "p.(Phe873SerfsTer11)" "17"
"0000127147" "00001847" "90" "2616" "0" "2616" "0" "c.2616C>G" "r.(2616c>g)" "p.(Tyr872Ter)" "17"
"0000127148" "00001847" "70" "2617" "0" "2617" "0" "c.2617T>C" "r.(2617u>c)" "p.(Phe873Leu)" "17"
"0000127149" "00001847" "90" "2626" "0" "2627" "0" "c.2626_2627insTTT" "r.(2626_2627insuuu)" "p.(Gln876_Asp2273delinsLeu)" "17"
"0000127150" "00001847" "50" "2654" "-905" "2743" "35" "c.2654-905_2743+35del" "r.(2654_2743del)" "p.(Gly885_His914del)" "17i_18i"
"0000127151" "00001847" "90" "265" "0" "265" "0" "c.265G>T" "r.(265g>u)" "p.(Glu89Ter)" "3"
"0000127152" "00001847" "50" "2686" "0" "2686" "0" "c.2686A>G" "r.(2686a>g)" "p.(Lys896Glu)" "18"
"0000127153" "00001847" "50" "2690" "0" "2690" "0" "c.2690C>T" "r.(2690c>u)" "p.(Thr897Ile)" "18"
"0000127154" "00001847" "50" "2701" "0" "2701" "0" "c.2701A>G" "r.(2701a>g)" "p.(Thr901Ala)" "18"
"0000127155" "00001847" "90" "2713" "0" "2713" "0" "c.2713del" "r.(2713del)" "p.(Glu905ArgfsTer27)" "18"
"0000127156" "00001847" "70" "2782" "0" "2782" "0" "c.2782G>T" "r.(2782g>u)" "p.(Gly928Trp)" "19"
"0000127157" "00001847" "70" "2791" "0" "2791" "0" "c.2791G>A" "r.(2791g>a)" "p.(Val931Met)" "19"
"0000127158" "00001847" "50" "2798" "0" "2798" "0" "c.2798A>T" "r.(2798a>u)" "p.(Asn933Ile)" "19"
"0000127159" "00001847" "70" "2804" "0" "2804" "0" "c.2804T>C" "r.(2804u>c)" "p.(Val935Ala)" "19"
"0000127160" "00001847" "70" "2813" "0" "2813" "0" "c.2813T>C" "r.(2813u>c)" "p.(Phe938Ser)" "19"
"0000127161" "00001847" "30" "2819" "0" "2819" "0" "c.2819C>G" "r.(2819c>g)" "p.(Pro940Arg)" "19"
"0000127162" "00001847" "70" "2827" "0" "2827" "0" "c.2827C>T" "r.(2827c>u)" "p.(Arg943Trp)" "19"
"0000127163" "00001847" "30" "2828" "0" "2828" "0" "c.2828G>A" "r.(2828g>a)" "p.(Arg943Gln)" "19"
"0000127164" "00001847" "90" "2829" "0" "2829" "0" "c.2829del" "r.(2829del)" "p.(Pro944GlnfsTer6)" "19"
"0000127165" "00001847" "70" "2852" "0" "2852" "0" "c.2852T>C" "r.(2852u>c)" "p.(Ile951Thr)" "19"
"0000127166" "00001847" "50" "2860" "0" "2860" "0" "c.2860T>G" "r.(2860u>g)" "p.(Tyr954Asp)" "19"
"0000127167" "00001847" "50" "2861" "0" "2861" "0" "c.2861A>C" "r.(2861a>c)" "p.(Tyr954Ser)" "19"
"0000127168" "00001847" "70" "2864" "0" "2864" "0" "c.2864A>G" "r.(2864a>g)" "p.(Glu955Gly)" "19"
"0000127169" "00001847" "70" "2869" "0" "2869" "0" "c.2869C>A" "r.(2869c>a)" "p.(Gln957Lys)" "19"
"0000127170" "00001847" "90" "286" "0" "286" "0" "c.286A>C" "r.286a>c" "p.(Asn96His)" "3"
"0000127171" "00001847" "90" "286" "0" "286" "0" "c.286A>G" "r.(286a>g)" "p.(Asn96Asp)" "3"
"0000127172" "00001847" "50" "2870" "0" "2870" "0" "c.2870A>G" "r.(2870a>g)" "p.(Gln957Arg)" "19"
"0000127173" "00001847" "70" "2875" "0" "2875" "0" "c.2875A>G" "r.(2875a>g)" "p.(Thr959Ala)" "19"
"0000127174" "00001847" "90" "2876" "0" "2876" "0" "c.2876C>T" "r.(2876c>u)" "p.(Thr959Ile)" "19"
"0000127175" "00001847" "90" "287" "0" "287" "0" "c.287del" "r.(287del)" "p.(Asn96ThrfsTer19)" "3"
"0000127176" "00001847" "90" "2884" "0" "2884" "0" "c.2884del" "r.(2884del)" "p.(Leu962TrpfsTer15)" "19"
"0000127177" "00001847" "90" "2888" "0" "2888" "0" "c.2888del" "r.(2888del)" "p.(Gly963AlafsTer14)" "19"
"0000127178" "00001847" "70" "288" "0" "288" "0" "c.288C>A" "r.(288c>a)" "p.(Asn96Lys)" "3"
"0000127179" "00001847" "70" "2893" "0" "2893" "0" "c.2893A>G" "r.(2893a>g)" "p.(Asn965Asp)" "19"
"0000127180" "00001847" "70" "2893" "0" "2893" "0" "c.2893A>T" "r.(2893a>u)" "p.(Asn965Tyr)" "19"
"0000127181" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(2894a>g)" "p.(Asn965Ser)" "19"
"0000127182" "00001847" "70" "2895" "0" "2895" "0" "c.2895T>G" "r.(2895u>g)" "p.(Asn965Lys)" "19"
"0000127183" "00001847" "50" "2906" "0" "2906" "0" "c.2906A>G" "r.(2906a>g)" "p.(Lys969Arg)" "19"
"0000127184" "00001847" "50" "2909" "0" "2909" "0" "c.2909C>T" "r.(2909c>u)" "p.(Thr970Ile)" "19"
"0000127185" "00001847" "70" "2912" "0" "2912" "0" "c.2912C>A" "r.(2912c>a)" "p.(Thr971Asn)" "19"
"0000127186" "00001847" "90" "2915" "0" "2915" "0" "c.2915C>A" "r.(2915c>a)" "p.(Thr972Asn)" "19"
"0000127187" "00001847" "90" "2919" "-1" "3328" "1" "c.(2918+1_2919-1)_(3328+1_3329-1)del" "r.(2919_3328del)" "p.?" "19i_22i"
"0000127188" "00001847" "70" "2919" "-2" "2919" "-2" "c.2919-2A>G" "r.spl" "p.?" "19i"
"0000127189" "00001847" "30" "2919" "-6" "2919" "-6" "c.2919-6C>A" "r.[=,2919_3050del]" "p.[=,Leu973_His1017delinsPhe]" "19i"
"0000127190" "00001847" "90" "2919" "0" "2919" "0" "c.2919del" "r.(2919del)" "p.(Leu973PhefsTer4)" "20"
"0000127191" "00001847" "50" "2920" "0" "2920" "0" "c.2920T>C" "r.spl?" "p.(Ser974Pro,?)" "20"
"0000127192" "00001847" "50" "2925" "0" "2925" "0" "c.2925C>G" "r.(2925c>g)" "p.(Ile975Met)" "20"
"0000127193" "00001847" "90" "2927" "0" "2927" "0" "c.2927del" "r.(2927del)" "p.(Leu976ArgfsTer55)" "20"
"0000127194" "00001847" "70" "2929" "0" "2929" "0" "c.2929A>C" "r.(2929a>c)" "p.(Thr977Pro)" "20"
"0000127195" "00001847" "90" "2933" "0" "2933" "0" "c.2933G>A" "r.(2933g>a)" "p.(Gly978Asp)" "20"
"0000127196" "00001847" "50" "2942" "0" "2942" "0" "c.2942C>T" "r.(2942c>u)" "p.(Pro981Leu)" "20"
"0000127197" "00001847" "90" "2947" "0" "2947" "0" "c.2947A>G" "r.(2947a>g)" "p.(Thr983Ala)" "20"
"0000127198" "00001847" "90" "2948" "0" "2948" "0" "c.2948C>T" "r.(2948c>u)" "p.(Thr983Ile)" "20"
"0000127199" "00001847" "90" "2966" "0" "2966" "0" "c.2966T>C" "r.(2966u>c)" "p.(Val989Ala)" "20"
"0000127200" "00001847" "90" "296" "0" "296" "0" "c.296dup" "r.(296dup)" "p.(Asn99LysfsTer62)" "3"
"0000127201" "00001847" "90" "2971" "0" "2971" "0" "c.2971G>C" "r.(2971g>c)" "p.(Gly991Arg)" "20"
"0000127202" "00001847" "90" "2971" "0" "2971" "0" "c.2971G>T" "r.(2971g>u)" "p.(Gly991Ter)" "20"
"0000127203" "00001847" "70" "2972" "0" "2972" "0" "c.2972G>T" "r.(2972g>u)" "p.(Gly991Val)" "20"
"0000127204" "00001847" "90" "2977" "0" "2984" "0" "c.2977_2984del" "r.(2977_2984del)" "p.(Asp993AsnfsTer27)" "20"
"0000127205" "00001847" "50" "298" "0" "298" "0" "c.298T>C" "r.(298u>c)" "p.(Ser100Pro)" "3"
"0000127206" "00001847" "70" "2" "0" "2" "0" "c.2T>C" "r.(2u>c)" "p.(Met1?)" "1"
"0000127207" "00001847" "50" "3004" "0" "3004" "0" "c.3004C>T" "r.(3004c>u)" "p.(Arg1002Trp)" "20"
"0000127208" "00001847" "90" "3007" "0" "3007" "0" "c.3007C>T" "r.(3007c>u)" "p.(Gln1003Ter)" "20"
"0000127209" "00001847" "90" "302" "1" "302" "1" "c.302+1G>A" "r.spl" "p.?" "3i"
"0000127210" "00001847" "30" "302" "20" "302" "20" "c.302+20C>T" "r.?" "p.?" "3i"
"0000127211" "00001847" "70" "302" "4" "302" "4" "c.302+4A>C" "r.161_302del" "p.Cys54SerfsTer14" "3i"
"0000127212" "00001847" "70" "3041" "0" "3041" "0" "c.3041T>G" "r.(3041u>g)" "p.(Leu1014Arg)" "20"
"0000127213" "00001847" "50" "3043" "0" "3043" "0" "c.3043T>C" "r.(3043u>c)" "p.(Phe1015Leu)" "20"
"0000127214" "00001847" "70" "3050" "1" "3050" "1" "c.3050+1G>C" "r.spl" "p.?" "20i"
"0000127215" "00001847" "70" "3050" "5" "3050" "5" "c.3050+5G>A" "r.2919_3050del" "p.Leu973_His1017delinsPhe" "20i"
"0000127216" "00001847" "90" "3055" "0" "3055" "0" "c.3055A>G" "r.(3055a>g)" "p.(Thr1019Ala)" "21"
"0000127217" "00001847" "90" "3056" "0" "3056" "0" "c.3056C>T" "r.(3056c>u)" "p.(Thr1019Met)" "21"
"0000127218" "00001847" "70" "3064" "0" "3064" "0" "c.3064G>A" "r.(3064g>a)" "p.(Glu1022Lys)" "21"
"0000127219" "00001847" "70" "3065" "0" "3065" "0" "c.3065A>G" "r.(3065a>g)" "p.(Glu1022Gly)" "21"
"0000127220" "00001847" "70" "3071" "0" "3071" "0" "c.3071T>C" "r.(3071u>c)" "p.(Met1024Thr)" "21"
"0000127221" "00001847" "90" "3085" "0" "3085" "0" "c.3085C>T" "r.(3085c>u)" "p.(Gln1029Ter)" "21"
"0000127222" "00001847" "50" "3091" "0" "3091" "0" "c.3091A>G" "r.(3091a>g)" "p.(Lys1031Glu)" "21"
"0000127223" "00001847" "70" "3106" "0" "3106" "0" "c.3106G>A" "r.(3106g>a)" "p.(Glu1036Lys)" "21"
"0000127224" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(3113c>u)" "p.(Ala1038Val)" "21"
"0000127225" "00001847" "50" "3148" "0" "3148" "0" "c.3148G>A" "r.(3148g>a)" "p.(Gly1050Ser)" "21"
"0000127226" "00001847" "50" "3149" "0" "3149" "0" "c.3149G>A" "r.(3149g>a)" "p.(Gly1050Asp)" "21"
"0000127227" "00001847" "50" "3163" "0" "3163" "0" "c.3163C>T" "r.(3163c>u)" "p.(Arg1055Trp)" "21"
"0000127228" "00001847" "50" "3187" "0" "3187" "0" "c.3187T>C" "r.(3187u>c)" "p.(Ser1063Pro)" "21"
"0000127229" "00001847" "90" "318" "0" "318" "0" "c.318T>G" "r.(318u>g)" "p.(Tyr106Ter)" "4"
"0000127230" "00001847" "90" "3191" "-1" "3191" "-1" "c.3191-1G>T" "r.spl" "p.?" "21i"
"0000127231" "00001847" "90" "3191" "-2" "3191" "-2" "c.3191-2A>G" "r.spl" "p.?" "21i"
"0000127232" "00001847" "55" "3191" "-2" "3191" "-2" "c.3191-2A>T" "r.spl" "p.?" "21i"
"0000127233" "00001847" "90" "3194" "0" "3194" "0" "c.3194G>T" "r.(3194g>u)" "p.(Gly1065Val)" "22"
"0000127234" "00001847" "90" "319" "0" "319" "0" "c.319C>T" "r.(319c>u)" "p.(Arg107Ter)" "4"
"0000127235" "00001847" "50" "3204" "0" "3204" "0" "c.3204A>Y" "r.(3204a>y)" "p.(Arg1068Ser)" "22"
"0000127236" "00001847" "90" "3205" "0" "3206" "0" "c.3205_3206dup" "r.(3205_3206dup)" "p.(Leu1070SerfsTer15)" "22"
"0000127237" "00001847" "50" "3205" "0" "3205" "0" "c.3205A>G" "r.(3205a>g)" "p.(Lys1069Glu)" "22"
"0000127238" "00001847" "90" "3208" "0" "3209" "0" "c.3208_3209insGT" "r.(3208_3209insgu)" "p.(Leu1070ArgfsTer15)" "22"
"0000127239" "00001847" "90" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(3210_3211dup)" "p.(Ser1071CysfsTer14)" "22"
"0000127240" "00001847" "90" "3212" "0" "3212" "0" "c.3212C>T" "r.(3212c>u)" "p.(Ser1071Leu)" "22"
"0000127241" "00001847" "70" "3233" "0" "3233" "0" "c.3233G>A" "r.(3233g>a)" "p.(Gly1078Glu)" "22"
"0000127242" "00001847" "50" "323" "0" "323" "0" "c.323A>T" "r.(323a>u)" "p.(Asp108Val)" "4"
"0000127243" "00001847" "90" "3259" "0" "3259" "0" "c.3259G>A" "r.(3259g>a)" "p.(Glu1087Lys)" "22"
"0000127244" "00001847" "90" "3259" "0" "3259" "0" "c.3259G>T" "r.(3259g>u)" "p.(Glu1087Ter)" "22"
"0000127245" "00001847" "90" "3261" "0" "3261" "0" "c.3261A>C" "r.(3261a>c)" "p.(Glu1087Asp)" "22"
"0000127246" "00001847" "70" "3266" "0" "3266" "0" "c.3266C>T" "r.(3266c>u)" "p.(Thr1089Ile)" "22"
"0000127247" "00001847" "70" "3272" "0" "3272" "0" "c.3272G>A" "r.(3272g>a)" "p.(Gly1091Glu)" "22"
"0000127248" "00001847" "90" "3279" "0" "3279" "0" "c.3279C>A" "r.(3279c>a)" "p.(Asp1093Glu)" "22"
"0000127249" "00001847" "90" "327" "0" "327" "0" "c.327dup" "r.(327dup)" "p.(Gln110SerfsTer51)" "4"
"0000127250" "00001847" "50" "3281" "0" "3281" "0" "c.3281C>G" "r.(3281c>g)" "p.(Pro1094Arg)" "22"
"0000127251" "00001847" "90" "3287" "0" "3287" "0" "c.3287C>T" "r.(3287c>u)" "p.(Ser1096Leu)" "22"
"0000127252" "00001847" "90" "3289" "0" "3289" "0" "c.3289A>T" "r.(3289a>u)" "p.(Arg1097Ter)" "22"
"0000127253" "00001847" "50" "3291" "0" "3291" "0" "c.3291A>T" "r.(3291a>u)" "p.(Arg1097Ser)" "22"
"0000127254" "00001847" "90" "3292" "0" "3292" "0" "c.3292C>T" "r.(3292c>u)" "p.(Arg1098Cys)" "22"
"0000127255" "00001847" "70" "3295" "0" "3295" "0" "c.3295T>C" "r.(3295u>c)" "p.(Ser1099Pro)" "22"
"0000127256" "00001847" "70" "3296" "0" "3296" "0" "c.3296C>R" "r.(3296c>r)" "p.(Ser1099*)" "22"
"0000127257" "00001847" "70" "3299" "0" "3299" "0" "c.3299T>A" "r.(3299u>a)" "p.(Ile1100Asn)" "22"
"0000127258" "00001847" "90" "32" "0" "32" "0" "c.32T>C" "r.(32u>c)" "p.(Leu11Pro)" "1"
"0000127259" "00001847" "90" "3303" "0" "3303" "0" "c.3303G>A" "r.(3303g>a)" "p.(Trp1101Ter)" "22"
"0000127260" "00001847" "70" "3305" "0" "3305" "0" "c.3305A>T" "r.(3305a>u)" "p.(Asp1102Val)" "22"
"0000127261" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(3322c>u)" "p.(Arg1108Cys)" "22"
"0000127262" "00001847" "90" "3323" "0" "3323" "0" "c.3323G>A" "r.(3323g>a)" "p.(Arg1108His)" "22"
"0000127263" "00001847" "70" "3329" "-2" "3329" "-2" "c.3329-2A>G" "r.spl" "p.?" "22i"
"0000127264" "00001847" "70" "3335" "0" "3335" "0" "c.3335C>A" "r.(3335c>a)" "p.(Thr1112Asn)" "23"
"0000127265" "00001847" "50" "3350" "0" "3350" "0" "c.3350C>T" "r.(3350c>u)" "p.(Thr1117Ile)" "23"
"0000127266" "00001847" "70" "3352" "0" "3352" "0" "c.3352C>T" "r.(3352c>u)" "p.(His1118Tyr)" "23"
"0000127267" "00001847" "90" "3364" "0" "3364" "0" "c.3364G>A" "r.(3364g>a)" "p.(Glu1122Lys)" "23"
"0000127268" "00001847" "50" "3370" "0" "3370" "0" "c.3370G>T" "r.(3370g>u)" "p.(Asp1124Tyr)" "23"
"0000127269" "00001847" "70" "3377" "0" "3377" "0" "c.3377T>C" "r.(3377u>c)" "p.(Leu1126Pro)" "23"
"0000127270" "00001847" "70" "3380" "0" "3380" "0" "c.3380G>A" "r.(3380g>a)" "p.(Gly1127Glu)" "23"
"0000127271" "00001847" "90" "3385" "0" "3385" "0" "c.3385C>T" "r.(3385c>u)" "p.(Arg1129Cys)" "23"
"0000127272" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>A" "r.(3386g>a)" "p.(Arg1129His)" "23"
"0000127273" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(3386g>u)" "p.(Arg1129Leu)" "23"
"0000127274" "00001847" "90" "3392" "0" "3393" "0" "c.3392_3393delinsG" "r.(3392_3393delinsg)" "p.(Ala1131GlyfsTer17)" "23"
"0000127275" "00001847" "90" "3393" "0" "3393" "0" "c.3393del" "r.(3393del)" "p.(Ile1132SerfsTer16)" "23"
"0000127276" "00001847" "70" "3398" "0" "3398" "0" "c.3398T>C" "r.(3398u>c)" "p.(Ile1133Thr)" "23"
"0000127277" "00001847" "70" "3413" "0" "3413" "0" "c.3413T>C" "r.(3413u>c)" "p.(Leu1138Pro)" "23"
"0000127278" "00001847" "50" "3434" "0" "3434" "0" "c.3434T>A" "r.(3434u>a)" "p.(Leu1145His)" "23"
"0000127279" "00001847" "50" "3443" "0" "3443" "0" "c.3443A>C" "r.(3443a>c)" "p.(Lys1148Thr)" "23"
"0000127280" "00001847" "50" "3449" "0" "3451" "0" "c.3449_3451del" "r.(3449_3451del)" "p.(Cys1150del)" "23"
"0000127281" "00001847" "50" "3449" "0" "3449" "0" "c.3449G>A" "r.(3449g>a)" "p.(Cys1150Tyr)" "23"
"0000127282" "00001847" "50" "3481" "0" "3481" "0" "c.3481C>A" "r.(3481c>a)" "p.(Arg1161Ser)" "23"
"0000127283" "00001847" "50" "3522" "5" "3522" "5" "c.3522+5del" "r.[=,3329_3522del]" "p.[=,Arg1111AspfsTer7]" "23i"
"0000127284" "00001847" "70" "3523" "-1" "3523" "-1" "c.3523-1G>A" "r.spl" "p.?" "23i"
"0000127285" "00001847" "90" "3523" "-2" "3523" "-2" "c.3523-2A>T" "r.spl" "p.?" "23i"
"0000127286" "00001847" "90" "3529" "0" "3532" "0" "c.3529_3532dup" "r.(3529_3532dup)" "p.(Ser1178MetfsTer6)" "24"
"0000127287" "00001847" "90" "3531" "0" "3531" "0" "c.3531C>A" "r.(3531c>a)" "p.(Cys1177Ter)" "24"
"0000127288" "00001847" "90" "3540" "0" "3555" "0" "c.3540_3555del" "r.(3540_3555del)" "p.(Ser1181ProfsTer10)" "24"
"0000127289" "00001847" "90" "3543" "0" "3543" "0" "c.3543del" "r.(3543del)" "p.(Lys1182ArgfsTer14)" "24"
"0000127290" "00001847" "90" "355" "0" "356" "0" "c.355_356del" "r.(355_356del)" "p.(Ser119ProfsTer41)" "4"
"0000127291" "00001847" "30" "3602" "0" "3602" "0" "c.3602T>G" "r.(3602u>g)" "p.(Leu1201Arg)" "24"
"0000127292" "00001847" "50" "3607" "3" "3607" "3" "c.3607+3A>T" "r.3523_3607del" "p.Thr1176MetfsTer2" "24i"
"0000127293" "00001847" "90" "3607" "0" "3607" "0" "c.3607G>A" "r.3523_3607del" "p.Thr1176MetfsTer2" "24"
"0000127294" "00001847" "50" "3608" "0" "3608" "0" "c.3608G>A" "r.[3608g>a,3608_3813del]" "p.(Gly1203Glu)" "25"
"0000127295" "00001847" "30" "3626" "0" "3626" "0" "c.3626T>C" "r.(3626u>c)" "p.(Met1209Thr)" "25"
"0000127296" "00001847" "70" "3655" "0" "3655" "0" "c.3655G>C" "r.(3655g>c)" "p.(Ala1219Pro)" "25"
"0000127297" "00001847" "50" "3736" "0" "3736" "0" "c.3736C>G" "r.(3736c>g)" "p.(Leu1246Val)" "25"
"0000127298" "00001847" "50" "3749" "0" "3749" "0" "c.3749T>C" "r.(3749u>c)" "p.(Leu1250Pro)" "25"
"0000127299" "00001847" "90" "3754" "0" "3754" "0" "c.3754G>T" "r.(3754g>u)" "p.(Glu1252Ter)" "25"
"0000127300" "00001847" "50" "3758" "0" "3758" "0" "c.3758C>T" "r.(3758c>u)" "p.(Thr1253Met)" "25"
"0000127301" "00001847" "90" "3765" "0" "3766" "0" "c.3765_3766dup" "r.(3765_3766dup)" "p.(Asp1256ValfsTer20)" "25"
"0000127302" "00001847" "50" "38" "0" "46" "0" "c.38_46del" "r.(38_46del)" "p.(Lys13_Trp15del)" "1"
"0000127303" "00001847" "90" "3808" "0" "3808" "0" "c.3808G>T" "r.(3808g>u)" "p.(Glu1270Ter)" "25"
"0000127304" "00001847" "90" "3812" "0" "3812" "0" "c.3812A>G" "r.3608_3813del" "p.Gly1203AspfsTer10" "25"
"0000127305" "00001847" "90" "3812" "0" "3812" "0" "c.3812del" "r.(3812del)" "p.(Glu1271GlyfsTer4)" "25"
"0000127306" "00001847" "90" "3813" "0" "3813" "0" "c.3813G>C" "r.3608_3813del" "p.Gly1203AspfsTer10" "25"
"0000127307" "00001847" "70" "3814" "-2" "3814" "-2" "c.3814-2A>G" "r.spl" "p.?" "25i"
"0000127308" "00001847" "90" "3819" "0" "3819" "0" "c.3819dup" "r.(3819dup)" "p.(Leu1274SerfsTer8)" "26"
"0000127309" "00001847" "50" "3840" "0" "3845" "0" "c.3840_3845del" "r.(3840_3845del)" "p.(Asp1281_Ser1282del)" "26"
"0000127310" "00001847" "70" "3846" "0" "3846" "0" "c.3846del" "r.(3846del)" "p.(Gly1283AspfsTer106)" "26"
"0000127311" "00001847" "90" "3862" "1" "3862" "1" "c.3862+1G>A" "r.spl" "p.?" "26i"
"0000127312" "00001847" "50" "3862" "3" "3862" "3" "c.3862+3A>G" "r.[=,3814_3862del]" "p.[=,Ile1272ValfsTer101]" "26i"
"0000127313" "00001847" "90" "3871" "0" "3871" "0" "c.3871C>T" "r.(3871c>u)" "p.(Gln1291Ter)" "27"
"0000127314" "00001847" "90" "3874" "0" "3874" "0" "c.3874C>T" "r.(3874c>u)" "p.(Gln1292Ter)" "27"
"0000127315" "00001847" "90" "3898" "0" "3898" "0" "c.3898C>T" "r.(3898c>u)" "p.(Arg1300Ter)" "27"
"0000127316" "00001847" "30" "3899" "0" "3899" "0" "c.3899G>A" "r.(3899g>a)" "p.(Arg1300Gln)" "27"
"0000127317" "00001847" "90" "3911" "0" "3911" "0" "c.3911T>A" "r.(3911u>a)" "p.(Leu1304Ter)" "27"
"0000127318" "00001847" "90" "3943" "0" "3943" "0" "c.3943C>T" "r.(3943c>u)" "p.(Gln1315Ter)" "27"
"0000127319" "00001847" "90" "3970" "0" "3970" "0" "c.3970del" "r.(3970del)" "p.(Ala1324ArgfsTer65)" "27"
"0000127320" "00001847" "90" "3988" "0" "3988" "0" "c.3988G>T" "r.(3988g>u)" "p.(Glu1330Ter)" "27"
"0000127321" "00001847" "90" "3994" "0" "3994" "0" "c.3994C>T" "r.(3994c>u)" "p.(Gln1332Ter)" "27"
"0000127322" "00001847" "70" "3" "0" "3" "0" "c.3G>A" "r.(3g>a)" "p.(Met1?)" "1"
"0000127323" "00001847" "90" "4003" "0" "4004" "0" "c.4003_4004del" "r.(4003_4004del)" "p.(Pro1335ArgfsTer86)" "27"
"0000127324" "00001847" "90" "400" "0" "400" "0" "c.400C>T" "r.(400c>u)" "p.(Gln134Ter)" "4"
"0000127325" "00001847" "77" "4020" "0" "4021" "0" "c.4020_4021insN[24]" "r.?" "p.?" "27"
"0000127326" "00001847" "90" "4036" "0" "4037" "0" "c.4036_4037del" "r.(4036_4037del)" "p.(Thr1346GlyfsTer75)" "27"
"0000127327" "00001847" "90" "4036" "0" "4037" "0" "c.4036_4037dup" "r.(4036_4037dup)" "p.(Gly1347ArgfsTer43)" "27"
"0000127328" "00001847" "90" "4069" "0" "4069" "0" "c.4069G>A" "r.(4069g>a)" "p.(Ala1357Thr)" "27"
"0000127329" "00001847" "70" "4070" "0" "4070" "0" "c.4070C>A" "r.(4070c>a)" "p.(Ala1357Glu)" "27"
"0000127330" "00001847" "90" "4070" "0" "4070" "0" "c.4070C>T" "r.(4070c>u)" "p.(Ala1357Val)" "27"
"0000127331" "00001847" "90" "4102" "0" "4102" "0" "c.4102C>T" "r.(4102c>u)" "p.(Arg1368Cys)" "27"
"0000127332" "00001847" "70" "4128" "0" "4128" "0" "c.4128G>A" "r.4128_4129ins4128+1_4128+12" "p.Gln1376_Ile1377insValLeuLeuSer" "27"
"0000127333" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(4139c>u)" "p.(Pro1380Leu)" "28"
"0000127334" "00001847" "90" "4163" "0" "4163" "0" "c.4163T>C" "r.(4163u>c)" "p.(Leu1388Pro)" "28"
"0000127335" "00001847" "70" "4169" "0" "4169" "0" "c.4169T>C" "r.(4169u>c)" "p.(Leu1390Pro)" "28"
"0000127336" "00001847" "50" "4177" "0" "4177" "0" "c.4177G>A" "r.(4177g>a)" "p.(Val1393Ile)" "28"
"0000127337" "00001847" "90" "4195" "0" "4195" "0" "c.4195G>A" "r.(4195g>a)" "p.(Glu1399Lys)" "28"
"0000127338" "00001847" "90" "4195" "0" "4195" "0" "c.4195G>T" "r.(4195g>u)" "p.(Glu1399Ter)" "28"
"0000127339" "00001847" "90" "4200" "0" "4200" "0" "c.4200C>A" "r.(4200c>a)" "p.(Tyr1400Ter)" "28"
"0000127340" "00001847" "70" "4216" "0" "4216" "0" "c.4216C>T" "r.(4216c>u)" "p.(His1406Tyr)" "28"
"0000127341" "00001847" "70" "4217" "0" "4217" "0" "c.4217A>G" "r.(4217a>g)" "p.(His1406Arg)" "28"
"0000127342" "00001847" "90" "4222" "0" "4222" "0" "c.4222T>C" "r.(4222u>c)" "p.(Trp1408Arg)" "28"
"0000127343" "00001847" "70" "4223" "0" "4223" "0" "c.4223G>T" "r.(4223g>u)" "p.(Trp1408Leu)" "28"
"0000127344" "00001847" "90" "4224" "0" "4224" "0" "c.4224G>A" "r.(4224g>a)" "p.(Trp1408Ter)" "28"
"0000127345" "00001847" "70" "4225" "0" "4225" "0" "c.4225A>G" "r.(4225a>g)" "p.(Ile1409Val)" "28"
"0000127346" "00001847" "90" "4232" "0" "4233" "0" "c.4232_4233insTATG" "r.(4232_4233insuaug)" "p.(Gln1412MetfsTer11)" "28"
"0000127347" "00001847" "90" "4234" "0" "4234" "0" "c.4234C>T" "r.(4234c>u)" "p.(Gln1412Ter)" "28"
"0000127348" "00001847" "50" "4243" "0" "4243" "0" "c.4243A>C" "r.(4243a>c)" "p.(Thr1415Pro)" "28"
"0000127349" "00001847" "50" "4248" "0" "4248" "0" "c.4248C>A" "r.(4248c>a)" "p.(Phe1416Leu)" "28"
"0000127350" "00001847" "70" "4249" "0" "4251" "0" "c.4249_4251del" "r.(4249_4251del)" "p.(Phe1417del)" "28"
"0000127351" "00001847" "90" "4253" "4" "4253" "4" "c.4253+4C>T" "r.4129_4253del" "p.Ile1377HisfsTerTer3" "28i"
"0000127352" "00001847" "90" "4253" "5" "4253" "5" "c.4253+5G>A" "r.4129_4253del" "p.Ile1377HisfsTerTer3" "28i"
"0000127353" "00001847" "90" "4253" "5" "4253" "5" "c.4253+5G>T" "r.[4129_4253del,=]" "p.[Ile1377HisfsTer3,=]" "28i"
"0000127354" "00001847" "50" "4254" "-36" "4254" "-14" "c.4254-36_4254-14del" "r.[4129_4352del,4254_4352del,4254_4466del]" "p.?" "28i"
"0000127355" "00001847" "70" "4254" "-2" "4254" "-2" "c.4254-2A>G" "r.spl" "p.?" "28i"
"0000127356" "00001847" "50" "4256" "0" "4256" "0" "c.4256T>C" "r.spl?" "p.(Met1419Thr,?)" "29"
"0000127357" "00001847" "30" "4283" "0" "4283" "0" "c.4283C>T" "r.(4283c>u)" "p.(Thr1428Met)" "29"
"0000127358" "00001847" "50" "4286" "0" "4286" "0" "c.4286T>C" "r.(4286u>c)" "p.(Val1429Ala)" "29"
"0000127359" "00001847" "70" "4289" "0" "4289" "0" "c.4289T>C" "r.(4289u>c)" "p.(Leu1430Pro)" "29"
"0000127360" "00001847" "70" "428" "0" "428" "0" "c.428C>T" "r.(428c>u)" "p.(Pro143Leu)" "4"
"0000127361" "00001847" "90" "4290" "0" "4290" "0" "c.4290del" "r.(4290del)" "p.(Ala1431GlnfsTer5)" "29"
"0000127362" "00001847" "50" "4297" "0" "4297" "0" "c.4297G>A" "r.(4297g>a)" "p.(Val1433Ile)" "29"
"0000127363" "00001847" "90" "43" "0" "47" "0" "c.43_47del" "r.(43_47del)" "p.(Trp15ProfsTer37)" "1"
"0000127364" "00001847" "90" "4316" "0" "4316" "0" "c.4316G>A" "r.(4316g>a)" "p.(Gly1439Asp)" "29"
"0000127365" "00001847" "70" "4318" "0" "4318" "0" "c.4318T>G" "r.(4318u>g)" "p.(Phe1440Val)" "29"
"0000127366" "00001847" "90" "4319" "0" "4319" "0" "c.4319T>C" "r.(4319u>c)" "p.(Phe1440Ser)" "29"
"0000127367" "00001847" "90" "4320" "0" "4320" "0" "c.4320del" "r.(4320del)" "p.(Phe1440LeufsTer6)" "29"
"0000127368" "00001847" "70" "4322" "0" "4322" "0" "c.4322G>A" "r.(4322g>a)" "p.(Gly1441Asp)" "29"
"0000127369" "00001847" "70" "4326" "0" "4326" "0" "c.4326C>A" "r.(4326c>a)" "p.(Asn1442Lys)" "29"
"0000127370" "00001847" "90" "4328" "0" "4328" "0" "c.4328G>A" "r.(4328g>a)" "p.(Arg1443His)" "29"
"0000127371" "00001847" "50" "4342" "0" "4342" "0" "c.4342G>A" "r.(4342g>a)" "p.(Gly1448Arg)" "29"
"0000127372" "00001847" "90" "4352" "1" "4352" "1" "c.4352+1G>A" "r.spl" "p.?" "29i"
"0000127373" "00001847" "70" "4353" "-1" "4353" "-1" "c.4353-1G>T" "r.spl" "p.?" "29i"
"0000127374" "00001847" "90" "4363" "0" "4363" "0" "c.4363T>C" "r.(4363u>c)" "p.(Cys1455Arg)" "30"
"0000127376" "00001847" "90" "4383" "0" "4383" "0" "c.4383G>A" "r.(4383g>a)" "p.(Trp1461Ter)" "30"
"0000127377" "00001847" "50" "4417" "0" "4417" "0" "c.4417C>A" "r.(4417c>a)" "p.(Leu1473Met)" "30"
"0000127378" "00001847" "70" "443" "-1" "570" "1" "c.(442+1_443-1)_(570+1_571-1)del" "r.(443_570del)" "p.(Gly148ValfsTer89)" "4i_5i"
"0000127380" "00001847" "90" "4457" "0" "4457" "0" "c.4457C>T" "r.(4457c>u)" "p.(Pro1486Leu)" "30"
"0000127381" "00001847" "90" "4462" "0" "4462" "0" "c.4462T>C" "r.(4462u>c)" "p.(Cys1488Arg)" "30"
"0000127382" "00001847" "90" "4463" "0" "4463" "0" "c.4463G>A" "r.(4463g>a)" "p.(Cys1488Tyr)" "30"
"0000127383" "00001847" "70" "4463" "0" "4463" "0" "c.4463G>T" "r.(4463g>u)" "p.(Cys1488Phe)" "30"
"0000127384" "00001847" "50" "4467" "0" "4467" "0" "c.4467G>T" "r.(4467g>u)" "p.(Arg1489Ser)" "30"
"0000127385" "00001847" "90" "4469" "0" "4469" "0" "c.4469G>A" "r.(4469g>a)" "p.(Cys1490Tyr)" "30"
"0000127386" "00001847" "90" "4506" "0" "4506" "0" "c.4506C>A" "r.(4506c>a)" "p.(Cys1502Ter)" "30"
"0000127387" "00001847" "90" "4519" "0" "4519" "0" "c.4519G>A" "r.(4519g>a)" "p.(Gly1507Arg)" "30"
"0000127388" "00001847" "70" "4519" "0" "4519" "0" "c.4519G>T" "r.(4519g>u)" "p.(Gly1507Trp)" "30"
"0000127389" "00001847" "50" "4522" "0" "4522" "0" "c.4522G>T" "r.(4522g>u)" "p.(Gly1508Cys)" "30"
"0000127390" "00001847" "70" "4532" "0" "4532" "0" "c.4532C>G" "r.(4532c>g)" "p.(Pro1511Arg)" "30"
"0000127391" "00001847" "50" "4535" "0" "4535" "0" "c.4535C>G" "r.(4535c>g)" "p.(Pro1512Arg)" "30"
"0000127392" "00001847" "90" "4537" "0" "4537" "0" "c.4537del" "r.(4537del)" "p.(Gln1513ArgfsTer13)" "30"
"0000127393" "00001847" "90" "4537" "0" "4537" "0" "c.4537dup" "r.(4537dup)" "p.(Gln1513ProfsTer42)" "30"
"0000127394" "00001847" "90" "4538" "0" "4539" "0" "c.4538_4539insC" "r.(4538_4539insc)" "p.(Gln1513HisfsTer42)" "30"
"0000127395" "00001847" "70" "4538" "0" "4538" "0" "c.4538A>C" "r.[4539_4540ins4540+1_4530+30,4467_4539del,4538a>c]" "p.[Pro1513_Arg1514insX[10],Cys1490GlufsTer12,Gln1513Pro]" "30"
"0000127396" "00001847" "90" "4538" "0" "4538" "0" "c.4538A>G" "r.[4539_4540ins4540+1_4530+30,4467_4539del]" "p.[Arg1513_Arg1514insX[10],Cys1490GlufsTer12]" "30"
"0000127397" "00001847" "90" "4539" "1" "4539" "1" "c.4539+1G>T" "r.spl" "p.?" "30i"
"0000127398" "00001847" "70" "4539" "2" "4539" "2" "c.4539+2T>G" "r.spl" "p.?" "30i"
"0000127399" "00001847" "90" "4540" "-2" "4540" "-2" "c.4540-2A>G" "r.spl" "p.?" "30i"
"0000127400" "00001847" "90" "4546" "0" "4547" "0" "c.4546_4547del" "r.(4546_4547del)" "p.(Gln1516AlafsTer38)" "31"
"0000127401" "00001847" "90" "454" "0" "454" "0" "c.454C>T" "r.(454c>u)" "p.(Arg152Ter)" "5"
"0000127402" "00001847" "50" "4552" "0" "4552" "0" "c.4552A>C" "r.(4552a>c)" "p.(Ser1518Arg)" "31"
"0000127403" "00001847" "90" "4555" "0" "4555" "0" "c.4555del" "r.(4555del)" "p.(Thr1519ArgfsTer7)" "31"
"0000127404" "00001847" "50" "4559" "0" "4559" "0" "c.4559A>G" "r.(4559a>g)" "p.(Glu1520Gly)" "31"
"0000127405" "00001847" "50" "455" "0" "455" "0" "c.455G>A" "r.(455g>a)" "p.(Arg152Gln)" "5"
"0000127406" "00001847" "50" "4574" "0" "4574" "0" "c.4574T>C" "r.(4574u>c)" "p.(Leu1525Pro)" "31"
"0000127407" "00001847" "90" "4577" "0" "4577" "0" "c.4577C>T" "r.(4577c>u)" "p.(Thr1526Met)" "31"
"0000127408" "00001847" "50" "457" "0" "457" "0" "c.457A>T" "r.(457a>u)" "p.(Ile153Leu)" "5"
"0000127409" "00001847" "90" "4594" "0" "4594" "0" "c.4594G>A" "r.(4594g>a)" "p.(Asp1532Asn)" "31"
"0000127410" "00001847" "70" "4594" "0" "4594" "0" "c.4594G>T" "r.(4594g>u)" "p.(Asp1532Tyr)" "31"
"0000127411" "00001847" "90" "45" "0" "45" "0" "c.45G>A" "r.(45g>a)" "p.(Trp15Ter)" "1"
"0000127412" "00001847" "90" "4604" "0" "4604" "0" "c.4604dup" "r.(4604dup)" "p.(Thr1537AsnfsTer18)" "31"
"0000127413" "00001847" "90" "4605" "0" "4606" "0" "c.4605_4606insT" "r.(4605_4606insu)" "p.(Lys1536Ter)" "31"
"0000127414" "00001847" "70" "4610" "0" "4610" "0" "c.4610C>T" "r.(4610c>u)" "p.(Thr1537Met)" "31"
"0000127415" "00001847" "50" "4622" "0" "4622" "0" "c.4622T>C" "r.(4622u>c)" "p.(Leu1541Pro)" "31"
"0000127416" "00001847" "50" "4634" "0" "4634" "0" "c.4634G>A" "r.(4634g>a)" "p.(Ser1545Asn)" "31"
"0000127417" "00001847" "90" "4635" "-1" "4635" "-1" "c.4635-1G>T" "r.spl" "p.?" "31i"
"0000127418" "00001847" "90" "4639" "0" "4639" "0" "c.4639A>T" "r.(4639a>u)" "p.(Lys1547Ter)" "32"
"0000127419" "00001847" "90" "4653" "0" "4653" "0" "c.4653G>A" "r.(4653g>a)" "p.(Trp1551Ter)" "32"
"0000127420" "00001847" "70" "4661" "0" "4661" "0" "c.4661A>G" "r.(4661a>g)" "p.(Glu1554Gly)" "32"
"0000127421" "00001847" "90" "4666" "0" "4666" "0" "c.4666del" "r.(4666del)" "p.(Arg1556GlyfsTer25)" "32"
"0000127422" "00001847" "90" "4667" "1" "4667" "1" "c.4667+1G>A" "r.spl" "p.?" "32i"
"0000127423" "00001847" "70" "4667" "2" "4667" "2" "c.4667+2T>C" "r.spl" "p.?" "32i"
"0000127424" "00001847" "70" "4667" "2" "4667" "2" "c.4667+2T>G" "r.spl" "p.?" "32i"
"0000127425" "00001847" "70" "4667" "0" "4667" "0" "c.4667G>C" "r.4635_4667del" "p.Ser1545_Gln1555del" "32"
"0000127426" "00001847" "70" "4668" "-1" "4668" "-1" "c.4668-1G>A" "r.spl" "p.?" "32i"
"0000127427" "00001847" "70" "4668" "-2" "4668" "-2" "c.4668-2A>G" "r.spl" "p.?" "32i"
"0000127428" "00001847" "50" "466" "0" "466" "0" "c.466A>G" "r.(466a>g)" "p.(Ile156Val)" "5"
"0000127429" "00001847" "70" "4670" "0" "4670" "0" "c.4670A>G" "r.spl?" "p.(Tyr1557Cys,?)" "33"
"0000127430" "00001847" "50" "4685" "0" "4685" "0" "c.4685T>C" "r.(4685u>c)" "p.(Ile1562Thr)" "33"
"0000127431" "00001847" "90" "4710" "0" "4710" "0" "c.4710del" "r.(4710del)" "p.(Ile1571SerfsTer10)" "33"
"0000127432" "00001847" "50" "4715" "0" "4715" "0" "c.4715C>T" "r.(4715c>u)" "p.(Thr1572Met)" "33"
"0000127433" "00001847" "90" "4720" "0" "4720" "0" "c.4720G>T" "r.(4720g>u)" "p.(Glu1574Ter)" "33"
"0000127434" "00001847" "90" "4734" "0" "4737" "0" "c.4734_4737del" "r.(4734_4737del)" "p.(Phe1579Ter)" "33"
"0000127435" "00001847" "90" "4734" "0" "4734" "0" "c.4734del" "r.(4734del)" "p.(Leu1580Ter)" "33"
"0000127436" "00001847" "50" "4735" "0" "4739" "0" "c.4735_4739delinsCC" "r.(4735_4739delinscc)" "p.(Phe1579_Leu1580delinsPro)" "33"
"0000127437" "00001847" "90" "4738" "0" "4739" "0" "c.4738_4739del" "r.(4738_4739del)" "p.(Leu1580LysfsTer16)" "33"
"0000127438" "00001847" "90" "4739" "0" "4739" "0" "c.4739del" "r.(4739del)" "p.(Leu1580Ter)" "33"
"0000127439" "00001847" "70" "4739" "0" "4739" "0" "c.4739T>C" "r.(4739u>c)" "p.(Leu1580Ser)" "33"
"0000127440" "00001847" "50" "4771" "0" "4771" "0" "c.4771G>A" "r.spl?" "p.(Gly1591Arg,?)" "33"
"0000127441" "00001847" "90" "4773" "1" "4773" "1" "c.4773+1G>A" "r.spl" "p.?" "33i"
"0000127442" "00001847" "90" "4773" "1" "4773" "1" "c.4773+1G>T" "r.spl" "p.?" "33i"
"0000127443" "00001847" "70" "4773" "2" "4773" "2" "c.4773+2T>C" "r.spl?" "p.?" "33i"
"0000127444" "00001847" "90" "4773" "3" "4773" "3" "c.4773+3A>G" "r.[4668_4773del,=]" "p.[Tyr1557AlafsTer18,=]" "33i"
"0000127445" "00001847" "70" "4773" "5" "4773" "5" "c.4773+5G>A" "r.[4668_4773del,4668_5018del]" "p.[Tyr1557AlafsTer18,Tyr1557_Val1673del]" "33i"
"0000127446" "00001847" "90" "4773" "0" "4773" "0" "c.4773G>C" "r.[4668_5018del,4668_4773del]" "p.[Tyr1557_Val1673del,Tyr1557AlafsTer18]" "33"
"0000127447" "00001847" "50" "4774" "-2" "4774" "-2" "c.4774-2A>C" "r.spl" "p.?" "33i"
"0000127448" "00001847" "90" "478" "0" "478" "0" "c.478G>T" "r.(478g>u)" "p.(Glu160Ter)" "5"
"0000127449" "00001847" "90" "4793" "0" "4793" "0" "c.4793C>A" "r.(4793c>a)" "p.(Ala1598Asp)" "34"
"0000127450" "00001847" "50" "4793" "0" "4793" "0" "c.4793C>G" "r.(4793c>g)" "p.(Ala1598Gly)" "34"
"0000127451" "00001847" "50" "481" "0" "481" "0" "c.481G>A" "r.(481g>a)" "p.(Glu161Lys)" "5"
"0000127452" "00001847" "90" "4848" "2" "4848" "2" "c.4848+2T>C" "r.spl" "p.?" "34i"
"0000127453" "00001847" "90" "4854" "0" "4854" "0" "c.4854G>A" "r.(4854g>a)" "p.(Trp1618Ter)" "35"
"0000127454" "00001847" "90" "4859" "0" "4864" "0" "c.4859_4864delinsTCCT" "r.(4859_4864delinsuccu)" "p.(Asn1620IlefsTer25)" "35"
"0000127456" "00001847" "50" "4870" "0" "4870" "0" "c.4870T>G" "r.(4870u>g)" "p.(Trp1624Gly)" "35"
"0000127457" "00001847" "90" "4872" "0" "4872" "0" "c.4872G>A" "r.(4872g>a)" "p.(Trp1624Ter)" "35"
"0000127458" "00001847" "50" "4892" "0" "4892" "0" "c.4892T>C" "r.(4892u>c)" "p.(Leu1631Pro)" "35"
"0000127459" "00001847" "50" "4909" "0" "4909" "0" "c.4909G>A" "r.(4909g>a)" "p.(Ala1637Thr)" "35"
"0000127460" "00001847" "90" "4918" "0" "4918" "0" "c.4918C>T" "r.(4918c>u)" "p.(Arg1640Trp)" "35"
"0000127461" "00001847" "90" "4919" "0" "4919" "0" "c.4919G>A" "r.(4919g>a)" "p.(Arg1640Gln)" "35"
"0000127462" "00001847" "70" "4926" "0" "4926" "0" "c.4926C>G" "r.(4926c>g)" "p.(Ser1642Arg)" "35"
"0000127463" "00001847" "90" "4947" "0" "4947" "0" "c.4947del" "r.(4947del)" "p.(Glu1650ArgfsTer12)" "35"
"0000127464" "00001847" "70" "4954" "0" "4954" "0" "c.4954T>G" "r.(4954u>g)" "p.(Tyr1652Asp)" "35"
"0000127465" "00001847" "90" "4956" "0" "4956" "0" "c.4956T>G" "r.(4956u>g)" "p.(Tyr1652Ter)" "35"
"0000127466" "00001847" "90" "4981" "0" "4981" "0" "c.4981del" "r.(4981del)" "p.(Leu1661Ter)" "35"
"0000127467" "00001847" "50" "4999" "0" "4999" "0" "c.4999C>A" "r.(4999c>a)" "p.(Gln1667Lys)" "35"
"0000127468" "00001847" "90" "5018" "2" "5018" "2" "c.5018+2T>A" "r.spl" "p.?" "35i"
"0000127469" "00001847" "90" "5018" "2" "5018" "2" "c.5018+2T>C" "r.spl" "p.?" "35i"
"0000127470" "00001847" "90" "5019" "-2" "5020" "0" "c.5019-2_5020del" "r.spl" "p.?" "35i_36"
"0000127471" "00001847" "90" "5044" "0" "5058" "0" "c.5044_5058del" "r.(5044_5058del)" "p.(Val1682_Val1686del)" "36"
"0000127472" "00001847" "50" "5056" "0" "5056" "0" "c.5056G>A" "r.(5056g>a)" "p.(Val1686Met)" "36"
"0000127473" "00001847" "50" "5065" "0" "5065" "0" "c.5065T>C" "r.(5065u>c)" "p.(Ser1689Pro)" "36"
"0000127474" "00001847" "50" "5077" "0" "5077" "0" "c.5077G>A" "r.(5077g>a)" "p.(Val1693Ile)" "36"
"0000127475" "00001847" "70" "5087" "0" "5087" "0" "c.5087G>A" "r.(5087g>a)" "p.(Ser1696Asn)" "36"
"0000127476" "00001847" "70" "5088" "0" "5088" "0" "c.5088C>G" "r.(5088c>g)" "p.(Ser1696Arg)" "36"
"0000127477" "00001847" "50" "5107" "0" "5107" "0" "c.5107C>G" "r.(5107c>g)" "p.(Gln1703Glu)" "36"
"0000127478" "00001847" "70" "5113" "0" "5113" "0" "c.5113C>T" "r.(5113c>u)" "p.(Arg1705Trp)" "36"
"0000127479" "00001847" "90" "5114" "0" "5114" "0" "c.5114G>A" "r.(5114g>a)" "p.(Arg1705Gln)" "36"
"0000127480" "00001847" "90" "5114" "0" "5114" "0" "c.5114G>T" "r.(5114g>u)" "p.(Arg1705Leu)" "36"
"0000127481" "00001847" "90" "5138" "0" "5138" "0" "c.5138A>G" "r.(5138a>g)" "p.(Gln1713Arg)" "36"
"0000127482" "00001847" "50" "514" "0" "514" "0" "c.514G>A" "r.(514g>a)" "p.(Gly172Ser)" "5"
"0000127483" "00001847" "90" "5161" "0" "5162" "0" "c.5161_5162del" "r.(5161_5162del)" "p.(Thr1721HisfsTer65)" "36"
"0000127484" "00001847" "70" "5172" "0" "5172" "0" "c.5172G>T" "r.(5172g>u)" "p.(Trp1724Cys)" "36"
"0000127485" "00001847" "50" "5177" "0" "5177" "0" "c.5177C>A" "r.(5177c>a)" "p.(Thr1726Asn)" "36"
"0000127486" "00001847" "90" "517" "0" "517" "0" "c.517del" "r.(517del)" "p.(Leu173CysfsTer9)" "5"
"0000127487" "00001847" "70" "5186" "0" "5186" "0" "c.5186T>C" "r.(5186u>c)" "p.(Leu1729Pro)" "36"
"0000127488" "00001847" "90" "5196" "1" "5196" "1" "c.5196+1G>A" "r.spl" "p.?" "36i"
"0000127489" "00001847" "90" "5196" "1" "5196" "1" "c.5196+1G>T" "r.spl" "p.?" "36i"
"0000127490" "00001847" "90" "5196" "2" "5196" "2" "c.5196+2T>C" "r.spl" "p.?" "36i"
"0000127491" "00001847" "90" "5196" "2" "5196" "2" "c.5196+2T>G" "r.spl" "p.?" "36i"
"0000127492" "00001847" "70" "5196" "3" "5196" "6" "c.5196+3_5196+6del" "r.4849_5196del" "p.Val1617_Ile1732del" "36i"
"0000127493" "00001847" "50" "5196" "3" "5196" "8" "c.5196+3_5196+8del" "r.spl?" "p.?" "36i"
"0000127494" "00001847" "50" "5206" "0" "5206" "0" "c.5206T>C" "r.(5206u>c)" "p.(Ser1736Pro)" "37"
"0000127495" "00001847" "90" "5212" "0" "5222" "0" "c.5212_5222del" "r.(5212_5222del)" "p.(Ser1738GlyfsTer45)" "37"
"0000127496" "00001847" "90" "5222" "0" "5232" "0" "c.5222_5232del" "r.(5222_5232del)" "p.(Leu1741HisfsTer42)" "37"
"0000127497" "00001847" "50" "5224" "0" "5234" "0" "c.5224_5234del" "r.(5224_5234del)" "p.(Val1742LeufsTer41)" "37"
"0000127498" "00001847" "70" "5242" "0" "5242" "0" "c.5242G>A" "r.(5242g>a)" "p.(Gly1748Arg)" "37"
"0000127499" "00001847" "90" "5248" "0" "5248" "0" "c.5248C>T" "r.(5248c>u)" "p.(Gln1750Ter)" "37"
"0000127500" "00001847" "50" "5260" "0" "5260" "0" "c.5260T>G" "r.(5260u>g)" "p.(Tyr1754Asp)" "37"
"0000127501" "00001847" "70" "5281" "0" "5289" "0" "c.5281_5289del" "r.(5281_5289del)" "p.(Pro1761_Leu1763del)" "37"
"0000127502" "00001847" "70" "5285" "0" "5285" "0" "c.5285C>A" "r.(5285c>a)" "p.(Ala1762Asp)" "37"
"0000127503" "00001847" "50" "5288" "0" "5288" "0" "c.5288T>C" "r.(5288u>c)" "p.(Leu1763Pro)" "37"
"0000127504" "00001847" "90" "5289" "0" "5289" "0" "c.5289del" "r.(5289del)" "p.(Val1764TrpfsTer14)" "37"
"0000127505" "00001847" "90" "52" "0" "52" "0" "c.52C>T" "r.(52c>u)" "p.(Arg18Trp)" "1"
"0000127506" "00001847" "50" "5300" "0" "5300" "0" "c.5300T>C" "r.(5300u>c)" "p.(Leu1767Pro)" "37"
"0000127507" "00001847" "90" "5302" "0" "5303" "0" "c.5302_5303del" "r.(5302_5303del)" "p.(Leu1768AlafsTer18)" "37"
"0000127508" "00001847" "90" "5312" "1" "5312" "1" "c.5312+1G>A" "r.spl" "p.?" "37i"
"0000127509" "00001847" "90" "5312" "2" "5312" "2" "c.5312+2T>G" "r.spl" "p.?" "37i"
"0000127510" "00001847" "70" "5312" "3" "5312" "3" "c.5312+3A>T" "r.5197_5312del" "p.Asn1734GlyfsTer14" "37i"
"0000127511" "00001847" "50" "5313" "-3" "5313" "-3" "c.5313-3C>G" "r.5312_5313insag" "p.Trp1772AspfsTer7" "37i"
"0000127512" "00001847" "90" "5316" "0" "5316" "0" "c.5316G>A" "r.(5316g>a)" "p.(Trp1772Ter)" "38"
"0000127513" "00001847" "70" "5318" "0" "5318" "0" "c.5318C>A" "r.(5318c>a)" "p.(Ala1773Glu)" "38"
"0000127514" "00001847" "90" "5318" "0" "5318" "0" "c.5318C>T" "r.(5318c>u)" "p.(Ala1773Val)" "38"
"0000127515" "00001847" "70" "5324" "0" "5324" "0" "c.5324T>A" "r.(5324u>a)" "p.(Ile1775Asn)" "38"
"0000127516" "00001847" "90" "5327" "0" "5327" "0" "c.5327C>T" "r.(5327c>u)" "p.(Pro1776Leu)" "38"
"0000127517" "00001847" "70" "5335" "0" "5335" "0" "c.5335T>C" "r.(5335u>c)" "p.(Tyr1779His)" "38"
"0000127518" "00001847" "90" "5337" "0" "5337" "0" "c.5337C>A" "r.(5337c>a)" "p.(Tyr1779Ter)" "38"
"0000127519" "00001847" "90" "5337" "0" "5337" "0" "c.5337C>G" "r.(5337c>g)" "p.(Tyr1779Ter)" "38"
"0000127520" "00001847" "50" "5338" "0" "5338" "0" "c.5338C>G" "r.(5338c>g)" "p.(Pro1780Ala)" "38"
"0000127521" "00001847" "90" "5381" "0" "5381" "0" "c.5381C>A" "r.(5381c>a)" "p.(Ala1794Asp)" "38"
"0000127522" "00001847" "90" "5395" "0" "5395" "0" "c.5395A>G" "r.(5395a>g)" "p.(Asn1799Asp)" "38"
"0000127523" "00001847" "70" "5413" "0" "5413" "0" "c.5413A>G" "r.(5413a>g)" "p.(Asn1805Asp)" "38"
"0000127524" "00001847" "50" "5451" "0" "5451" "0" "c.5451G>T" "r.(5451g>u)" "p.(Glu1817Asp)" "38"
"0000127525" "00001847" "50" "5459" "0" "5459" "0" "c.5459G>C" "r.(5459g>c)" "p.(Arg1820Pro)" "38"
"0000127526" "00001847" "90" "5460" "1" "5460" "1" "c.5460+1G>A" "r.spl" "p.?" "38i"
"0000127527" "00001847" "50" "5460" "5" "5460" "5" "c.5460+5G>A" "r.5313_5460del" "p.Trp1772ArgfsTer9" "38i"
"0000127528" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821AspfsTer6,Thr1821ValfsTer13]" "38i"
"0000127529" "00001847" "30" "5466" "0" "5466" "0" "c.5466G>A" "r.(?)" "p.(Leu1822=)" "39"
"0000127530" "00001847" "50" "550" "0" "551" "0" "c.550_551delinsCG" "r.(550_551delinscg)" "p.(Ser184Arg)" "5"
"0000127531" "00001847" "70" "5512" "0" "5512" "0" "c.5512C>A" "r.(5512c>a)" "p.(His1838Asn)" "39"
"0000127532" "00001847" "70" "5512" "0" "5512" "0" "c.5512C>G" "r.(5512c>g)" "p.(His1838Asp)" "39"
"0000127533" "00001847" "70" "5516" "0" "5516" "0" "c.5516T>C" "r.(5516u>c)" "p.(Phe1839Ser)" "39"
"0000127534" "00001847" "50" "551" "0" "551" "0" "c.551C>T" "r.(551c>u)" "p.(Ser184Phe)" "5"
"0000127535" "00001847" "70" "5528" "0" "5533" "0" "c.5528_5533del" "r.(5528_5533del)" "p.(Arg1843_Gly1844del)" "39"
"0000127536" "00001847" "50" "5531" "0" "5531" "0" "c.5531G>A" "r.(5531g>a)" "p.(Gly1844Asp)" "39"
"0000127537" "00001847" "90" "5537" "0" "5537" "0" "c.5537T>C" "r.(5537u>c)" "p.(Ile1846Thr)" "39"
"0000127538" "00001847" "70" "5549" "0" "5549" "0" "c.5549T>C" "r.(5549u>c)" "p.(Leu1850Pro)" "39"
"0000127539" "00001847" "70" "5578" "0" "5578" "0" "c.5578C>T" "r.(5578c>u)" "p.(Arg1860Trp)" "39"
"0000127540" "00001847" "90" "5584" "1" "5584" "1" "c.5584+1G>A" "r.spl" "p.?" "39i"
"0000127541" "00001847" "70" "5584" "5" "5584" "5" "c.5584+5G>A" "r.[5461_5714del,5461_5584del]" "p.[Thr1821AspfsTer6,Thr1821ValfsTer13]" "39i"
"0000127542" "00001847" "90" "5584" "6" "5584" "6" "c.5584+6T>C" "r.[5461_5714del,5461_5584del,5585_5714]" "p.[Thr1821AspfsTer6,Thr1821ValfsTer13,Glu1863LeufsTer33]" "39i"
"0000127543" "00001847" "90" "5584" "0" "5584" "0" "c.5584G>C" "r.5461_5714del" "p.(Gly1862Arg)" "39"
"0000127544" "00001847" "50" "5585" "-10" "5585" "-10" "c.5585-10T>C" "r.(5585-10u>c)" "p.(=)" "39i"
"0000127545" "00001847" "90" "5585" "-1" "5585" "-1" "c.5585-1G>A" "r.spl" "p.?" "39i"
"0000127546" "00001847" "70" "559" "0" "559" "0" "c.559C>T" "r.(559c>u)" "p.(Arg187Cys)" "5"
"0000127547" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(5603a>u)" "p.(Asn1868Ile)" "40"
"0000127548" "00001847" "50" "560" "0" "560" "0" "c.560G>A" "r.(560g>a)" "p.(Arg187His)" "5"
"0000127549" "00001847" "50" "5630" "0" "5644" "0" "c.5630_5644dup" "r.(5630_5644dup)" "p.(Lys1877_Ala1881dup)" "40"
"0000127550" "00001847" "50" "5642" "0" "5642" "0" "c.5642C>T" "r.(5642c>u)" "p.(Ala1881Val)" "40"
"0000127551" "00001847" "70" "5644" "0" "5644" "0" "c.5644A>G" "r.(5644a>g)" "p.(Met1882Val)" "40"
"0000127552" "00001847" "90" "5645" "0" "5645" "0" "c.5645T>C" "r.(5645u>c)" "p.(Met1882Thr)" "40"
"0000127553" "00001847" "90" "5646" "0" "5646" "0" "c.5646G>A" "r.(5646g>a)" "p.(Met1882Ile)" "40"
"0000127554" "00001847" "90" "564" "0" "564" "0" "c.564del" "r.(564del)" "p.(Glu189SerfsTer12)" "5"
"0000127555" "00001847" "50" "5651" "0" "5651" "0" "c.5651T>A" "r.(5651u>a)" "p.(Val1884Glu)" "40"
"0000127556" "00001847" "70" "5653" "0" "5653" "0" "c.5653G>A" "r.(5653g>a)" "p.(Glu1885Lys)" "40"
"0000127557" "00001847" "70" "5657" "0" "5657" "0" "c.5657G>A" "r.(5657g>a)" "p.(Gly1886Glu)" "40"
"0000127558" "00001847" "50" "5668" "0" "5670" "0" "c.5668_5670del" "r.(5668_5670del)" "p.(Phe1890del)" "40"
"0000127559" "00001847" "50" "5687" "0" "5687" "0" "c.5687T>A" "r.(5687u>a)" "p.(Val1896Asp)" "40"
"0000127560" "00001847" "50" "5692" "0" "5692" "0" "c.5692C>T" "r.(5692c>u)" "p.(Arg1898Cys)" "40"
"0000127561" "00001847" "50" "5693" "0" "5693" "0" "c.5693G>A" "r.(5693g>a)" "p.(Arg1898His)" "40"
"0000127562" "00001847" "90" "570" "1" "570" "1" "c.570+1G>A" "r.spl" "p.?" "5i"
"0000127563" "00001847" "50" "570" "0" "570" "0" "c.570G>C" "r.spl?" "p.(Gln190His,?)" "5"
"0000127564" "00001847" "90" "571" "-1" "571" "-1" "c.571-1G>T" "r.spl" "p.?" "5i"
"0000127565" "00001847" "90" "571" "-2" "571" "-2" "c.571-2A>G" "r.spl" "p.?" "5i"
"0000127566" "00001847" "90" "571" "-2" "571" "-2" "c.571-2A>T" "r.spl" "p.?" "5i"
"0000127567" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863LeufsTer33]" "40i"
"0000127568" "00001847" "50" "574" "0" "574" "0" "c.574G>A" "r.(574g>a)" "p.(Ala192Thr)" "6"
"0000127569" "00001847" "90" "5761" "0" "5761" "0" "c.5761G>A" "r.(5761g>a)" "p.(Val1921Met)" "41"
"0000127570" "00001847" "90" "5762" "0" "5763" "0" "c.5762_5763dup" "r.(5762_5763dup)" "p.(Ala1922TrpfsTer18)" "41"
"0000127571" "00001847" "90" "5776" "0" "5776" "0" "c.5776C>T" "r.(5776c>u)" "p.(Gln1926Ter)" "41"
"0000127572" "00001847" "90" "5819" "0" "5819" "0" "c.5819T>C" "r.(5819u>c)" "p.(Leu1940Pro)" "41"
"0000127573" "00001847" "50" "5822" "0" "5822" "0" "c.5822A>C" "r.(5822a>c)" "p.(His1941Pro)" "41"
"0000127574" "00001847" "50" "5828" "0" "5828" "0" "c.5828T>C" "r.(5828u>c)" "p.(Leu1943Pro)" "41"
"0000127575" "00001847" "50" "5836" "-2" "5836" "-2" "c.5836-2A>C" "r.spl" "p.?" "41i"
"0000127576" "00001847" "90" "5836" "-2" "5836" "-2" "c.5836-2del" "r.spl" "p.?" "41i"
"0000127577" "00001847" "90" "5836" "-3" "5836" "-3" "c.5836-3C>A" "r.5835_5836ins5836+1_5836+30" "p.Lys1945_Ile1946PheinsX[10]" "41i"
"0000127578" "00001847" "50" "5843" "0" "5844" "0" "c.5843_5844inv" "r.(5843_5844inv)" "p.(Pro1948Leu)" "42"
"0000127579" "00001847" "30" "5843" "0" "5843" "0" "c.5843C>T" "r.(5843c>u)" "p.(Pro1948Leu)" "42"
"0000127580" "00001847" "70" "5881" "0" "5881" "0" "c.5881G>A" "r.(5881g>a)" "p.(Gly1961Arg)" "42"
"0000127581" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(5882g>a)" "p.(Gly1961Glu)" "42"
"0000127582" "00001847" "90" "5888" "0" "5888" "0" "c.5888del" "r.(5888del)" "p.(Arg1963ProfsTer11)" "42"
"0000127583" "00001847" "90" "5892" "0" "5892" "0" "c.5892del" "r.(5892del)" "p.(Gly1965GlufsTer9)" "42"
"0000127584" "00001847" "90" "5898" "1" "5898" "1" "c.5898+1G>A" "r.spl" "p.?" "42i"
"0000127585" "00001847" "70" "5898" "1" "5898" "1" "c.5898+1G>T" "r.spl" "p.?" "42i"
"0000127586" "00001847" "70" "5898" "5" "5898" "5" "c.5898+5del" "r.[5898_5899ins[gugg;5898+6_5899-1],5898_5899ins[gugg;5898+6_5898+170]]" "p.Cys1967ValfsTer24" "42i"
"0000127587" "00001847" "70" "5899" "-2" "5899" "-2" "c.5899-2del" "r.spl" "p.?" "42i"
"0000127588" "00001847" "90" "5899" "-3" "5899" "-2" "c.5899-3_5899-2del" "r.spl" "p.?" "42i"
"0000127589" "00001847" "50" "5908" "0" "5908" "0" "c.5908C>T" "r.(5908c>u)" "p.(Leu1970Phe)" "43"
"0000127590" "00001847" "50" "5912" "0" "5912" "0" "c.5912T>G" "r.(5912u>g)" "p.(Leu1971Arg)" "43"
"0000127591" "00001847" "70" "5914" "0" "5914" "0" "c.5914G>A" "r.(5914g>a)" "p.(Gly1972Arg)" "43"
"0000127592" "00001847" "90" "5917" "0" "5917" "0" "c.5917del" "r.(5917del)" "p.(Val1973Ter)" "43"
"0000127593" "00001847" "50" "5921" "0" "5921" "0" "c.5921A>G" "r.(5921a>g)" "p.(Asn1974Ser)" "43"
"0000127594" "00001847" "70" "5923" "0" "5923" "0" "c.5923G>C" "r.(5923g>c)" "p.(Gly1975Arg)" "43"
"0000127595" "00001847" "90" "5929" "0" "5929" "0" "c.5929G>A" "r.(5929g>a)" "p.(Gly1977Ser)" "43"
"0000127596" "00001847" "70" "5932" "0" "5932" "0" "c.5932A>G" "r.(5932a>g)" "p.(Lys1978Glu)" "43"
"0000127597" "00001847" "90" "5935" "0" "5935" "0" "c.5935del" "r.(5935del)" "p.(Thr1979GlnfsTer13)" "43"
"0000127598" "00001847" "90" "5961" "0" "5964" "0" "c.5961_5964del" "r.(5961_5964del)" "p.(Asp1988ProfsTer3)" "43"
"0000127599" "00001847" "90" "6005" "1" "6005" "1" "c.6005+1G>A" "r.spl" "p.?" "43i"
"0000127600" "00001847" "90" "6005" "1" "6005" "1" "c.6005+1G>T" "r.spl" "p.?" "43i"
"0000127601" "00001847" "90" "6079" "0" "6079" "0" "c.6079C>T" "r.(6079c>u)" "p.(Leu2027Phe)" "44"
"0000127602" "00001847" "90" "6088" "0" "6088" "0" "c.6088C>T" "r.(6088c>u)" "p.(Arg2030Ter)" "44"
"0000127603" "00001847" "90" "6089" "0" "6089" "0" "c.6089G>A" "r.(6089g>a)" "p.(Arg2030Gln)" "44"
"0000127604" "00001847" "90" "6095" "0" "6095" "0" "c.6095A>G" "r.(6095a>g)" "p.(His2032Arg)" "44"
"0000127605" "00001847" "90" "6098" "0" "6098" "0" "c.6098T>C" "r.(6098u>c)" "p.(Leu2033Pro)" "44"
"0000127606" "00001847" "90" "6098" "0" "6098" "0" "c.6098T>G" "r.(6098u>g)" "p.(Leu2033Arg)" "44"
"0000127607" "00001847" "50" "6104" "0" "6104" "0" "c.6104T>C" "r.(6104u>c)" "p.(Leu2035Pro)" "44"
"0000127608" "00001847" "90" "6112" "0" "6112" "0" "c.6112C>T" "r.(6112c>u)" "p.(Arg2038Trp)" "44"
"0000127609" "00001847" "90" "6118" "0" "6118" "0" "c.6118C>T" "r.(6118c>u)" "p.(Arg2040Ter)" "44"
"0000127610" "00001847" "90" "6119" "0" "6119" "0" "c.6119G>A" "r.(6119g>a)" "p.(Arg2040Gln)" "44"
"0000127611" "00001847" "70" "6122" "0" "6122" "0" "c.6122G>A" "r.(6122g>a)" "p.(Gly2041Asp)" "44"
"0000127612" "00001847" "50" "6140" "0" "6140" "0" "c.6140T>A" "r.(6140u>a)" "p.(Ile2047Asn)" "44"
"0000127613" "00001847" "90" "6147" "2" "6147" "2" "c.6147+2T>A" "r.spl" "p.?" "44i"
"0000127614" "00001847" "90" "6148" "-698" "6670" "0" "c.6148-698_6670delinsTGTGCACCTCCCTAG" "r.spl" "p.?" "44i_48"
"0000127615" "00001847" "50" "6148" "0" "6148" "0" "c.6148G>C" "r.(6148g>c)" "p.(Val2050Leu)" "45"
"0000127616" "00001847" "70" "6173" "0" "6173" "0" "c.6173T>G" "r.(6173u>g)" "p.(Leu2058Arg)" "45"
"0000127617" "00001847" "90" "6179" "0" "6179" "0" "c.6179T>G" "r.(6179u>g)" "p.(Leu2060Arg)" "45"
"0000127618" "00001847" "70" "618" "0" "619" "0" "c.618_619del" "r.(618_619del)" "p.(Ser206ArgfsTer73)" "6"
"0000127619" "00001847" "50" "618" "0" "618" "0" "c.618C>G" "r.(618c>g)" "p.(Ser206Arg)" "6"
"0000127620" "00001847" "90" "6190" "0" "6190" "0" "c.6190G>A" "r.(6190g>a)" "p.(Ala2064Thr)" "45"
"0000127621" "00001847" "90" "6196" "0" "6196" "0" "c.6196del" "r.(6196del)" "p.(Cys2066AlafsTer49)" "45"
"0000127622" "00001847" "90" "61" "0" "61" "0" "c.61C>T" "r.(61c>u)" "p.(Gln21Ter)" "1"
"0000127623" "00001847" "70" "6209" "0" "6209" "0" "c.6209C>G" "r.(6209c>g)" "p.(Thr2070Arg)" "45"
"0000127624" "00001847" "50" "6212" "0" "6212" "0" "c.6212A>T" "r.(6212a>u)" "p.(Tyr2071Phe)" "45"
"0000127625" "00001847" "70" "6220" "0" "6220" "0" "c.6220G>A" "r.(6220g>a)" "p.(Gly2074Ser)" "45"
"0000127626" "00001847" "90" "6221" "0" "6221" "0" "c.6221G>T" "r.(6221g>u)" "p.(Gly2074Val)" "45"
"0000127627" "00001847" "90" "6229" "0" "6229" "0" "c.6229C>G" "r.(6229c>g)" "p.(Arg2077Gly)" "45"
"0000127628" "00001847" "90" "6229" "0" "6229" "0" "c.6229C>T" "r.(6229c>u)" "p.(Arg2077Trp)" "45"
"0000127629" "00001847" "50" "6230" "0" "6230" "0" "c.6230G>A" "r.(6230g>a)" "p.(Arg2077Gln)" "45"
"0000127630" "00001847" "90" "6238" "0" "6239" "0" "c.6238_6239del" "r.(6238_6239del)" "p.(Ser2080HisfsTer16)" "45"
"0000127631" "00001847" "90" "6282" "1" "6282" "1" "c.6282+1G>C" "r.spl" "p.?" "45i"
"0000127632" "00001847" "10" "6282" "7" "6282" "7" "c.6282+7G>A" "r.spl?" "p.?" "45i"
"0000127633" "00001847" "70" "6284" "0" "6284" "0" "c.6284A>T" "r.(6284a>u)" "p.(Asp2095Val)" "46"
"0000127634" "00001847" "70" "6286" "0" "6286" "0" "c.6286G>A" "r.(6286g>a)" "p.(Glu2096Lys)" "46"
"0000127635" "00001847" "70" "6287" "0" "6287" "0" "c.6287A>G" "r.(6287a>g)" "p.(Glu2096Gly)" "46"
"0000127636" "00001847" "90" "6287" "0" "6287" "0" "c.6287A>T" "r.(6287a>u)" "p.(Glu2096Val)" "46"
"0000127637" "00001847" "90" "6289" "0" "6289" "0" "c.6289C>T" "r.(6289c>u)" "p.(Pro2097Ser)" "46"
"0000127638" "00001847" "90" "6300" "0" "6300" "0" "c.6300del" "r.(6300del)" "p.(Met2101TrpfsTer14)" "46"
"0000127639" "00001847" "90" "6306" "0" "6306" "0" "c.6306C>A" "r.(6306c>a)" "p.(Asp2102Glu)" "46"
"0000127640" "00001847" "90" "6316" "0" "6316" "0" "c.6316C>T" "r.(6316c>u)" "p.(Arg2106Cys)" "46"
"0000127641" "00001847" "90" "6317" "0" "6317" "0" "c.6317G>C" "r.(6317g>c)" "p.(Arg2106Pro)" "46"
"0000127642" "00001847" "90" "6319" "0" "6325" "0" "c.6319_6325del" "r.(6319_6325del)" "p.(Arg2107CysfsTer6)" "46"
"0000127643" "00001847" "90" "6319" "0" "6319" "0" "c.6319C>T" "r.(6319c>u)" "p.(Arg2107Cys)" "46"
"0000127644" "00001847" "70" "6320" "0" "6320" "0" "c.6320G>A" "r.(6320g>a)" "p.(Arg2107His)" "46"
"0000127645" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>C" "r.(6320g>c)" "p.(Arg2107Pro)" "46"
"0000127646" "00001847" "90" "6329" "0" "6329" "0" "c.6329G>A" "r.(6329g>a)" "p.(Trp2110Ter)" "46"
"0000127647" "00001847" "70" "6339" "0" "6339" "0" "c.6339C>G" "r.(6339c>g)" "p.(Ile2113Met)" "46"
"0000127648" "00001847" "70" "6342" "0" "6342" "0" "c.6342G>A" "r.(6342g>a)" "p.(=)" "46"
"0000127649" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(634c>u)" "p.(Arg212Cys)" "6"
"0000127650" "00001847" "90" "6352" "0" "6352" "0" "c.6352del" "r.(6352del)" "p.(Arg2118GlufsTer27)" "46"
"0000127651" "00001847" "30" "635" "0" "635" "0" "c.635G>A" "r.(635g>a)" "p.(Arg212His)" "6"
"0000127652" "00001847" "70" "6383" "0" "6383" "0" "c.6383A>G" "r.(6383a>g)" "p.(His2128Arg)" "46"
"0000127653" "00001847" "90" "6385" "0" "6385" "0" "c.6385A>G" "r.6340_6386del" "p.?" "46"
"0000127654" "00001847" "90" "6386" "1" "6386" "1" "c.6386+1G>A" "r.spl" "p.?" "46i"
"0000127655" "00001847" "90" "6386" "2" "6386" "2" "c.6386+2C>G" "r.spl" "p.?" "46i"
"0000127656" "00001847" "70" "6387" "-1" "6387" "-1" "c.6387-1G>T" "r.spl" "p.?" "46i"
"0000127657" "00001847" "90" "6389" "0" "6389" "0" "c.6389T>A" "r.spl?" "p.(Met2130Lys,?)" "47"
"0000127658" "00001847" "70" "6389" "0" "6389" "0" "c.6389T>C" "r.spl?" "p.(Met2130Thr,?)" "47"
"0000127659" "00001847" "70" "6391" "0" "6391" "0" "c.6391G>A" "r.(6391g>a)" "p.(Glu2131Lys)" "47"
"0000127660" "00001847" "70" "6394" "0" "6394" "0" "c.6394G>A" "r.(6394g>a)" "p.(Glu2132Lys)" "47"
"0000127661" "00001847" "90" "6410" "0" "6410" "0" "c.6410G>A" "r.(6410g>a)" "p.(Cys2137Tyr)" "47"
"0000127662" "00001847" "90" "6411" "0" "6411" "0" "c.6411T>A" "r.(6411u>a)" "p.(Cys2137Ter)" "47"
"0000127663" "00001847" "90" "6415" "0" "6415" "0" "c.6415C>T" "r.(6415c>u)" "p.(Arg2139Trp)" "47"
"0000127664" "00001847" "70" "6416" "0" "6416" "0" "c.6416G>C" "r.(6416g>c)" "p.(Arg2139Pro)" "47"
"0000127665" "00001847" "90" "6419" "0" "6419" "0" "c.6419T>A" "r.(6419u>a)" "p.(Leu2140Gln)" "47"
"0000127666" "00001847" "70" "6419" "0" "6419" "0" "c.6419T>G" "r.(6419u>g)" "p.(Leu2140Arg)" "47"
"0000127667" "00001847" "90" "6437" "0" "6438" "0" "c.6437_6438delinsT" "r.(6437_6438delinsu)" "p.(Gly2146ValfsTer24)" "47"
"0000127668" "00001847" "70" "6437" "0" "6437" "0" "c.6437G>A" "r.(6437g>a)" "p.(Gly2146Asp)" "47"
"0000127669" "00001847" "90" "6445" "0" "6445" "0" "c.6445C>T" "r.(6445c>u)" "p.(Arg2149Ter)" "47"
"0000127670" "00001847" "50" "6446" "0" "6446" "0" "c.6446G>T" "r.(6446g>u)" "p.(Arg2149Leu)" "47"
"0000127671" "00001847" "90" "6448" "0" "6448" "0" "c.6448T>C" "r.(6448u>c)" "p.(Cys2150Arg)" "47"
"0000127672" "00001847" "90" "6449" "0" "6449" "0" "c.6449G>A" "r.(6449g>a)" "p.(Cys2150Tyr)" "47"
"0000127673" "00001847" "70" "6478" "0" "6478" "0" "c.6478A>G" "r.[6478a>g,6387_6479del]" "p.[Lys2160Glu,Ser2129_Lys2160delinsArg]" "47"
"0000127674" "00001847" "70" "6479" "1" "6479" "1" "c.6479+1G>A" "r.spl" "p.?" "47i"
"0000127675" "00001847" "90" "6479" "1" "6479" "1" "c.6479+1G>C" "r.spl" "p.?" "47i"
"0000127676" "00001847" "70" "6479" "2" "6479" "2" "c.6479+2T>C" "r.spl?" "p.?" "47i"
"0000127677" "00001847" "50" "6479" "4" "6479" "4" "c.6479+4A>G" "r.6387_6479del" "p.Ser2129_Lys2160delinsArg" "47i"
"0000127678" "00001847" "50" "6479" "0" "6479" "0" "c.6479A>G" "r.(6479a>g)" "p.(Lys2160Arg)" "47"
"0000127679" "00001847" "50" "6515" "0" "6515" "0" "c.6515A>G" "r.(6515a>g)" "p.(Lys2172Arg)" "48"
"0000127680" "00001847" "90" "6519" "0" "6529" "0" "c.6519_6529del" "r.(6519_6529del)" "p.(Lys2175AlafsTer3)" "48"
"0000127681" "00001847" "30" "6529" "0" "6529" "0" "c.6529G>A" "r.(6529g>a)" "p.(Asp2177Asn)" "48"
"0000127682" "00001847" "90" "6545" "0" "6548" "0" "c.6545_6548dup" "r.(6545_6548dup)" "p.(Pro2184GlufsTer68)" "48"
"0000127683" "00001847" "90" "6545" "0" "6580" "0" "c.6545_6580del" "r.(6545_6580del)" "p.(Leu2182_Phe2193del)" "48"
"0000127684" "00001847" "90" "6559" "0" "6559" "0" "c.6559C>T" "r.(6559c>u)" "p.(Gln2187Ter)" "48"
"0000127685" "00001847" "90" "655" "0" "655" "0" "c.655A>T" "r.(655a>u)" "p.(Arg219Ter)" "6"
"0000127686" "00001847" "50" "6560" "0" "6560" "0" "c.6560A>C" "r.(6560a>c)" "p.(Gln2187Pro)" "48"
"0000127687" "00001847" "90" "6563" "0" "6563" "0" "c.6563T>C" "r.(6563u>c)" "p.(Phe2188Ser)" "48"
"0000127688" "00001847" "50" "656" "0" "656" "0" "c.656G>C" "r.(656g>c)" "p.(Arg219Thr)" "6"
"0000127689" "00001847" "70" "658" "0" "658" "0" "c.658C>T" "r.(658c>u)" "p.(Arg220Cys)" "6"
"0000127690" "00001847" "50" "66" "3" "66" "3" "c.66+3A>C" "r.spl?" "p.?" "1i"
"0000127691" "00001847" "90" "6601" "0" "6602" "0" "c.6601_6602del" "r.(6601_6602del)" "p.(Arg2201AlafsTer49)" "48"
"0000127692" "00001847" "90" "6609" "0" "6609" "0" "c.6609C>A" "r.(6609c>a)" "p.(Tyr2203Ter)" "48"
"0000127693" "00001847" "90" "664" "0" "664" "0" "c.664del" "r.(664del)" "p.(Ala222GlnfsTer19)" "6"
"0000127694" "00001847" "90" "6658" "0" "6658" "0" "c.6658C>T" "r.(6658c>u)" "p.(Gln2220Ter)" "48"
"0000127695" "00001847" "90" "666" "0" "678" "0" "c.666_678del" "r.(666_678del)" "p.(Lys223MetfsTer14)" "6"
"0000127696" "00001847" "50" "6662" "0" "6662" "0" "c.6662T>C" "r.(6662u>c)" "p.(Leu2221Pro)" "48"
"0000127697" "00001847" "30" "667" "0" "667" "0" "c.667A>C" "r.(667a>c)" "p.(Lys223Gln)" "6"
"0000127698" "00001847" "70" "6686" "0" "6686" "0" "c.6686T>C" "r.(6686u>c)" "p.(Leu2229Pro)" "48"
"0000127699" "00001847" "50" "6703" "0" "6703" "0" "c.6703T>C" "r.(6703u>c)" "p.(Ser2235Pro)" "48"
"0000127700" "00001847" "90" "6707" "0" "6714" "0" "c.6707_6714del" "r.(6707_6714del)" "p.(Val2236AspfsTer12)" "48"
"0000127701" "00001847" "90" "6709" "0" "6710" "0" "c.6709_6710insG" "r.(6709_6710insg)" "p.(Thr2237SerfsTer14)" "48"
"0000127702" "00001847" "70" "6709" "0" "6709" "0" "c.6709A>C" "r.(6709a>c)" "p.(Thr2237Pro)" "48"
"0000127703" "00001847" "90" "6709" "0" "6709" "0" "c.6709dup" "r.(6709dup)" "p.(Thr2237AsnfsTer14)" "48"
"0000127704" "00001847" "90" "6711" "0" "6711" "0" "c.6711dup" "r.(6711dup)" "p.(Gln2238ThrfsTer13)" "48"
"0000127705" "00001847" "90" "6712" "0" "6712" "0" "c.6712C>T" "r.(6712c>u)" "p.(Gln2238Ter)" "48"
"0000127706" "00001847" "90" "6718" "0" "6718" "0" "c.6718A>G" "r.(6718a>g)" "p.(Thr2240Ala)" "48"
"0000127707" "00001847" "90" "671" "0" "671" "0" "c.671del" "r.(671del)" "p.(Thr224ArgfsTer17)" "6"
"0000127708" "00001847" "90" "672" "0" "703" "0" "c.672_703delinsN[6]" "r.?" "p.(Val225fsTer46)" "6"
"0000127709" "00001847" "70" "6721" "0" "6721" "0" "c.6721C>G" "r.(6721c>g)" "p.(Leu2241Val)" "48"
"0000127710" "00001847" "90" "6729" "1" "6729" "1" "c.6729+1G>A" "r.spl" "p.?" "48i"
"0000127711" "00001847" "70" "6729" "5" "6729" "19" "c.6729+5_6729+19del" "r.6480_6729del" "p.Phe2161CysfsTer3" "48i"
"0000127712" "00001847" "70" "6730" "-10" "6730" "-2" "c.6730-10_6730-2del" "r.spl" "p.?" "48i"
"0000127713" "00001847" "90" "6730" "-14" "6759" "0" "c.6730-14_6759del" "r.spl" "p.?" "48i_49"
"0000127714" "00001847" "70" "6730" "-1" "6730" "-1" "c.6730-1G>C" "r.spl" "p.?" "48i"
"0000127715" "00001847" "90" "6750" "0" "6750" "0" "c.6750del" "r.(6750del)" "p.(Lys2250AsnfsTer60)" "49"
"0000127716" "00001847" "50" "6757" "0" "6757" "0" "c.6757A>G" "r.(6757a>g)" "p.(Thr2253Ala)" "49"
"0000127717" "00001847" "30" "6764" "0" "6764" "0" "c.6764G>T" "r.(6764g>u)" "p.(Ser2255Ile)" "49"
"0000127718" "00001847" "50" "6788" "0" "6788" "0" "c.6788G>T" "r.(6788g>u)" "p.(Arg2263Leu)" "49"
"0000127719" "00001847" "90" "6816" "1" "6816" "1" "c.6816+1G>A" "r.spl" "p.?" "49i"
"0000127720" "00001847" "50" "6817" "-1" "6817" "-1" "c.6817-1G>A" "r.spl" "p.?" "49i"
"0000127721" "00001847" "70" "688" "0" "688" "0" "c.688T>A" "r.(688u>a)" "p.(Cys230Ser)" "6"
"0000127722" "00001847" "90" "700" "0" "700" "0" "c.700C>T" "r.(700c>u)" "p.(Gln234Ter)" "6"
"0000127723" "00001847" "90" "70" "0" "70" "0" "c.70C>T" "r.(70c>u)" "p.(Arg24Cys)" "2"
"0000127724" "00001847" "90" "71" "0" "71" "0" "c.71G>A" "r.(71g>a)" "p.(Arg24His)" "2"
"0000127725" "00001847" "50" "723" "0" "723" "0" "c.723A>T" "r.(723a>u)" "p.(Glu241Asp)" "6"
"0000127726" "00001847" "90" "730" "0" "731" "0" "c.730_731del" "r.(730_731del)" "p.(Leu244ValfsTer35)" "6"
"0000127727" "00001847" "90" "731" "0" "731" "0" "c.731T>C" "r.(731u>c)" "p.(Leu244Pro)" "6"
"0000127728" "00001847" "90" "735" "0" "735" "0" "c.735T>G" "r.(735u>g)" "p.(Tyr245Ter)" "6"
"0000127729" "00001847" "50" "736" "0" "736" "0" "c.736G>A" "r.(736g>a)" "p.(Ala246Thr)" "6"
"0000127730" "00001847" "50" "740" "0" "740" "0" "c.740A>C" "r.(740a>c)" "p.(Asn247Thr)" "6"
"0000127731" "00001847" "50" "740" "0" "740" "0" "c.740A>G" "r.(740a>g)" "p.(Asn247Ser)" "6"
"0000127732" "00001847" "70" "740" "0" "740" "0" "c.740A>T" "r.(740a>u)" "p.(Asn247Ile)" "6"
"0000127733" "00001847" "90" "742" "0" "768" "29" "c.742_768+29del" "r.spl" "p.(Val248_Val256del)" "6_6i"
"0000127734" "00001847" "70" "746" "0" "746" "0" "c.746A>G" "r.(746a>g)" "p.(Asp249Gly)" "6"
"0000127735" "00001847" "50" "763" "0" "763" "0" "c.763C>T" "r.(763c>u)" "p.(Arg255Cys)" "6"
"0000127736" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.[768g>u;768_769ins769+1_769+30]" "p.Leu257ValfsTer17" "6"
"0000127737" "00001847" "70" "769" "-1" "769" "-1" "c.769-1G>T" "r.spl" "p.?" "6i"
"0000127738" "00001847" "70" "769" "-2" "769" "-2" "c.769-2A>T" "r.spl" "p.?" "6i"
"0000127739" "00001847" "50" "770" "0" "770" "0" "c.770T>G" "r.spl?" "p.?" "7"
"0000127740" "00001847" "90" "818" "0" "818" "0" "c.818G>A" "r.(818g>a)" "p.(Trp273Ter)" "7"
"0000127741" "00001847" "90" "853" "0" "853" "0" "c.853C>T" "r.(853c>u)" "p.(Gln285Ter)" "7"
"0000127742" "00001847" "90" "858" "2" "858" "2" "c.858+2T>A" "r.spl" "p.?" "7i"
"0000127743" "00001847" "50" "858" "8" "858" "8" "c.858+8G>T" "r.spl" "p.?" "7i"
"0000127744" "00001847" "90" "859" "-45" "952" "0" "c.859-45_952delinsTCTGACC" "r.spl?" "p.?" "7i_8"
"0000127745" "00001847" "90" "859" "-9" "859" "-9" "c.859-9T>C" "r.[=,859_1356del]" "p.[=,Phe287_Arg452del]" "7i"
"0000127746" "00001847" "70" "868" "0" "868" "0" "c.868C>T" "r.(868c>u)" "p.(Arg290Trp)" "8"
"0000127747" "00001847" "70" "871" "0" "871" "0" "c.871C>G" "r.(871c>g)" "p.(Pro291Ala)" "8"
"0000127748" "00001847" "70" "872" "0" "872" "0" "c.872C>T" "r.(872c>u)" "p.(Pro291Leu)" "8"
"0000127749" "00001847" "90" "885" "0" "885" "0" "c.885del" "r.(885del)" "p.(Leu296CysfsTer4)" "8"
"0000127750" "00001847" "90" "889" "0" "889" "0" "c.889del" "r.(889del)" "p.(Leu297CysfsTer3)" "8"
"0000127751" "00001847" "50" "899" "0" "899" "0" "c.899C>A" "r.(899c>a)" "p.(Thr300Asn)" "8"
"0000127752" "00001847" "90" "913" "0" "913" "0" "c.913C>T" "r.(913c>u)" "p.(Gln305Ter)" "8"
"0000127753" "00001847" "70" "91" "0" "91" "0" "c.91T>C" "r.(91u>c)" "p.(Trp31Arg)" "2"
"0000127754" "00001847" "70" "926" "0" "926" "0" "c.926C>G" "r.(926c>g)" "p.(Pro309Arg)" "8"
"0000127755" "00001847" "90" "93" "0" "93" "0" "c.93G>A" "r.(93g>a)" "p.(Trp31Ter)" "2"
"0000127756" "00001847" "90" "950" "0" "950" "0" "c.950del" "r.(950del)" "p.(Gly317AlafsTer57)" "8"
"0000127757" "00001847" "90" "967" "0" "967" "0" "c.967del" "r.(967del)" "p.(Leu323CysfsTer51)" "8"
"0000127758" "00001847" "90" "982" "0" "982" "0" "c.982G>T" "r.(982g>u)" "p.(Glu328Ter)" "8"
"0000127759" "00001847" "90" "983" "0" "983" "0" "c.983A>T" "r.(983a>u)" "p.(Glu328Val)" "8"
"0000127760" "00001847" "50" "997" "0" "997" "0" "c.997C>T" "r.(997c>u)" "p.(Arg333Trp)" "8"
"0000127761" "00001847" "50" "998" "0" "998" "0" "c.998G>A" "r.(998g>a)" "p.(Arg333Gln)" "8"
"0000129955" "00001847" "77" "1822" "0" "1822" "0" "c.1822T>A" "r.(?)" "p.(Phe608Ile)" "13"
"0000129956" "00001847" "79" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.?" "38i"
"0000129957" "00001847" "70" "1822" "0" "1822" "0" "c.1822T>A" "r.(?)" "p.(Phe608Ile)" ""
"0000129958" "00001847" "70" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.spl?" "p.(?)" ""
"0000129959" "00001847" "95" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000129960" "00001847" "90" "4539" "2001" "4539" "2001" "c.4539+2001G>A" "r.spl" "p.?" "30i"
"0000129961" "00001847" "99" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.?" "38i"
"0000129962" "00001847" "97" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000129963" "00001847" "75" "5584" "6" "5584" "6" "c.5584+6T>C" "r.spl?" "p.(?)" "39i"
"0000129964" "00001847" "90" "4539" "2001" "4539" "2001" "c.4539+2001G>A" "r.spl?" "p.(?)" "30i"
"0000129965" "00001847" "99" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973*)" "43"
"0000129966" "00001847" "97" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000129967" "00001847" "95" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "13"
"0000129968" "00001847" "99" "4539" "2001" "4539" "2001" "c.4539+2001G>A" "r.spl?" "p.(?)" "30i"
"0000129970" "00001847" "99" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.(Val256=)" "6"
"0000129971" "00001847" "99" "4537" "0" "4537" "0" "c.4537dup" "r.(?)" "p.(Gln1513fs)" "30"
"0000148384" "00001847" "70" "2966" "0" "2966" "0" "c.2966T>C" "r.(?)" "p.(Val989Ala)" ""
"0000148385" "00001847" "99" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973*)" ""
"0000148386" "00001847" "75" "1532" "0" "1532" "0" "c.1532G>A" "r.(?)" "p.(Arg511His)" "11"
"0000148387" "00001847" "90" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" ""
"0000148388" "00001847" "50" "1938" "-822" "1938" "-808" "c.1938-822_1938-808del" "r.(?)" "p.(=)" ""
"0000148389" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000148390" "00001847" "70" "6729" "5" "6729" "19" "c.6729+5_6729+19del" "r.spl?" "p.?" ""
"0000148391" "00001847" "90" "93" "0" "93" "0" "c.93G>A" "r.(?)" "p.(Trp31*)" ""
"0000148392" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000148393" "00001847" "70" "6729" "5" "6729" "19" "c.6729+5_6729+19del" "r.spl?" "p.?" ""
"0000148394" "00001847" "90" "66" "0" "66" "0" "c.66G>A" "r.spl" "p.(Lys22=)" ""
"0000148395" "00001847" "90" "6658" "0" "6658" "0" "c.6658C>T" "r.(?)" "p.(Gln2220*)" ""
"0000148396" "00001847" "70" "3407" "0" "3407" "0" "c.3407G>T" "r.(?)" "p.(Gly1136Val)" ""
"0000148397" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000148398" "00001847" "70" "1908" "0" "1908" "0" "c.1908G>T" "r.(?)" "p.(Gln636His)" ""
"0000148399" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000148400" "00001847" "70" "6191" "0" "6191" "0" "c.6191C>T" "r.(?)" "p.(Ala2064Val)" ""
"0000148401" "00001847" "70" "1819" "0" "1819" "0" "c.1819G>T" "r.(?)" "p.(Gly607Trp)" ""
"0000148402" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000148403" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" ""
"0000148404" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000148405" "00001847" "70" "1957" "0" "1957" "0" "c.1957C>T" "r.(?)" "p.(Arg653Cys)" ""
"0000148406" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000148408" "00001847" "50" "859" "-9" "859" "-9" "c.859-9T>C" "r.(=)" "p.(=)" ""
"0000148409" "00001847" "50" "859" "-9" "859" "-9" "c.859-9T>C" "r.(=)" "p.(=)" ""
"0000148410" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" ""
"0000148411" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000148412" "00001847" "90" "5318" "0" "5318" "0" "c.5318C>T" "r.(?)" "p.(Ala1773Val)" ""
"0000148413" "00001847" "70" "2023" "0" "2023" "0" "c.2023G>A" "r.(?)" "p.(Val675Ile)" ""
"0000148414" "00001847" "70" "5646" "0" "5646" "0" "c.5646G>A" "r.(?)" "p.(Met1882Ile)" ""
"0000148415" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000148417" "00001847" "90" "571" "-2" "575" "0" "c.571-2_575del" "r.spl" "p.?" ""
"0000148418" "00001847" "90" "5313" "-2" "5316" "0" "c.5313-2_5316del" "r.spl?" "p.?" ""
"0000148419" "00001847" "70" "6694" "0" "6694" "0" "c.6694G>A" "r.(?)" "p.(Glu2232Lys)" ""
"0000148420" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000148422" "00001847" "70" "5243" "0" "5243" "0" "c.5243G>A" "r.(?)" "p.(Gly1748Glu)" ""
"0000148423" "00001847" "70" "6317" "0" "6317" "0" "c.6317G>A" "r.(?)" "p.(Arg2106His)" ""
"0000148424" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000148426" "00001847" "70" "6098" "0" "6098" "0" "c.6098T>A" "r.(?)" "p.(Leu2033His)" ""
"0000148427" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000148428" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000148429" "00001847" "90" "6479" "1" "6479" "1" "c.6479+1G>A" "r.spl" "p.?" ""
"0000148430" "00001847" "70" "179" "0" "179" "0" "c.179C>T" "r.(?)" "p.(Ala60Val)" ""
"0000148431" "00001847" "70" "91" "0" "91" "0" "c.91T>C" "r.(?)" "p.(Trp31Arg)" ""
"0000148432" "00001847" "90" "1995" "0" "1995" "0" "c.1995C>A" "r.(?)" "p.(Tyr665*)" ""
"0000148433" "00001847" "70" "2966" "0" "2966" "0" "c.2966T>C" "r.(?)" "p.(Val989Ala)" ""
"0000148434" "00001847" "90" "1995" "0" "1995" "0" "c.1995C>A" "r.(?)" "p.(Tyr665*)" ""
"0000148435" "00001847" "70" "2966" "0" "2966" "0" "c.2966T>C" "r.(?)" "p.(Val989Ala)" ""
"0000169040" "00001847" "90" "6729" "5" "6729" "19" "c.6729+5_6729+19del" "r.(?)" "p.?" "48i"
"0000170881" "00001847" "75" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000170882" "00001847" "50" "4539" "2064" "4539" "2064" "c.4539+2064C>T" "r.(?)" "p.(=)" "30i"
"0000171134" "00001847" "70" "3988" "0" "3988" "0" "c.3988G>T" "r.(?)" "p.(Glu1330*)" ""
"0000171135" "00001847" "70" "6410" "0" "6410" "0" "c.6410G>A" "r.(?)" "p.(Cys2137Tyr)" ""
"0000238524" "00001847" "50" "4845" "0" "4845" "0" "c.4845del" "r.(4949del)" "p.(Lys1616Argfs*46)" "34"
"0000245400" "00001847" "10" "1029" "0" "1029" "0" "c.1029T>C" "r.(?)" "p.(Asn343=)" ""
"0000245407" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(=)" "p.(=)" ""
"0000245464" "00001847" "10" "2212" "0" "2212" "0" "c.2212T>C" "r.(?)" "p.(Leu738=)" ""
"0000245525" "00001847" "10" "4634" "17" "4634" "17" "c.4634+17T>G" "r.(=)" "p.(=)" ""
"0000245531" "00001847" "30" "3602" "0" "3602" "0" "c.3602T>G" "r.(?)" "p.(Leu1201Arg)" ""
"0000245577" "00001847" "50" "6006" "-609" "6006" "-609" "c.6006-609T>A" "r.(=)" "p.(=)" ""
"0000245595" "00001847" "50" "1832" "0" "1832" "0" "c.1832T>C" "r.(?)" "p.(Leu611Pro)" ""
"0000245596" "00001847" "50" "4256" "0" "4256" "0" "c.4256T>C" "r.(?)" "p.(Met1419Thr)" ""
"0000245604" "00001847" "50" "1928" "0" "1928" "0" "c.1928T>G" "r.(?)" "p.(Val643Gly)" ""
"0000247937" "00001847" "10" "6069" "0" "6069" "0" "c.6069T>C" "r.(?)" "p.(Ile2023=)" ""
"0000253198" "00001847" "10" "6069" "0" "6069" "0" "c.6069T>C" "r.(?)" "p.(Ile2023=)" ""
"0000253745" "00001847" "10" "3329" "-112" "3329" "-112" "c.3329-112del" "r.(=)" "p.(=)" ""
"0000254125" "00001847" "30" "1029" "0" "1029" "0" "c.1029T>C" "r.(?)" "p.(Asn343=)" ""
"0000255191" "00001847" "30" "4353" "-4" "4353" "-4" "c.4353-4T>C" "r.spl?" "p.?" ""
"0000255360" "00001847" "70" "4574" "0" "4574" "0" "c.4574T>C" "r.(?)" "p.(Leu1525Pro)" ""
"0000255414" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(=)" "p.(=)" ""
"0000255516" "00001847" "90" "470" "0" "470" "0" "c.470T>A" "r.(?)" "p.(Leu157Ter)" ""
"0000256263" "00001847" "50" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" ""
"0000256906" "00001847" "10" "6832" "0" "6832" "0" "c.*10C>A" "r.(=)" "p.(=)" ""
"0000256907" "00001847" "50" "1267" "0" "1267" "0" "c.1267C>T" "r.(?)" "p.(His423Tyr)" ""
"0000256908" "00001847" "50" "1523" "0" "1523" "0" "c.1523G>A" "r.(?)" "p.(Arg508His)" ""
"0000256909" "00001847" "10" "1614" "0" "1614" "0" "c.1614C>T" "r.(?)" "p.(Ala538=)" ""
"0000256910" "00001847" "30" "1932" "0" "1932" "0" "c.1932C>T" "r.(?)" "p.(Asp644=)" ""
"0000256911" "00001847" "90" "1938" "-619" "1938" "-619" "c.1938-619A>G" "r.(=)" "p.(=)" ""
"0000256912" "00001847" "10" "2055" "0" "2055" "0" "c.2055C>T" "r.(?)" "p.(Thr685=)" ""
"0000256913" "00001847" "90" "2160" "584" "2160" "584" "c.2160+584A>G" "r.(=)" "p.(=)" ""
"0000256914" "00001847" "10" "2828" "0" "2828" "0" "c.2828G>A" "r.(?)" "p.(Arg943Gln)" ""
"0000256915" "00001847" "90" "2829" "0" "2829" "0" "c.2829del" "r.(?)" "p.(Pro944GlnfsTer6)" ""
"0000256916" "00001847" "90" "302" "68" "302" "68" "c.302+68C>T" "r.(=)" "p.(=)" ""
"0000256917" "00001847" "90" "3050" "370" "3050" "370" "c.3050+370C>T" "r.(=)" "p.(=)" ""
"0000256918" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" ""
"0000256919" "00001847" "10" "3363" "0" "3363" "0" "c.3363C>T" "r.(?)" "p.(Asp1121=)" ""
"0000256920" "00001847" "50" "3608" "0" "3608" "0" "c.3608G>A" "r.(?)" "p.(Gly1203Glu)" ""
"0000256921" "00001847" "10" "3831" "0" "3831" "0" "c.3831G>A" "r.(?)" "p.(Thr1277=)" ""
"0000256922" "00001847" "10" "3900" "0" "3900" "0" "c.3900A>G" "r.(?)" "p.(Arg1300=)" ""
"0000256923" "00001847" "10" "3963" "0" "3963" "0" "c.3963C>T" "r.(?)" "p.(Ser1321=)" ""
"0000256924" "00001847" "10" "4050" "0" "4050" "0" "c.4050G>C" "r.(?)" "p.(Leu1350=)" ""
"0000256925" "00001847" "10" "4125" "0" "4125" "0" "c.4125G>A" "r.(?)" "p.(Ala1375=)" ""
"0000256926" "00001847" "10" "4203" "0" "4203" "0" "c.4203C>T" "r.(?)" "p.(Pro1401=)" ""
"0000256927" "00001847" "50" "4297" "0" "4297" "0" "c.4297G>A" "r.(?)" "p.(Val1433Ile)" ""
"0000256928" "00001847" "10" "4352" "14" "4352" "14" "c.4352+14C>T" "r.(=)" "p.(=)" ""
"0000256929" "00001847" "50" "4402" "0" "4402" "0" "c.4402C>G" "r.(?)" "p.(Pro1468Ala)" ""
"0000256930" "00001847" "30" "4503" "0" "4503" "0" "c.4503G>C" "r.(?)" "p.(Glu1501Asp)" ""
"0000256931" "00001847" "50" "4535" "0" "4535" "0" "c.4535C>A" "r.(?)" "p.(Pro1512His)" ""
"0000256932" "00001847" "90" "4539" "1729" "4539" "1729" "c.4539+1729G>T" "r.(=)" "p.(=)" ""
"0000256933" "00001847" "70" "4539" "2001" "4539" "2001" "c.4539+2001G>A" "r.(=)" "p.(=)" ""
"0000256935" "00001847" "10" "4557" "0" "4557" "0" "c.4557G>A" "r.(?)" "p.(Thr1519=)" ""
"0000256936" "00001847" "10" "4611" "0" "4611" "0" "c.4611G>A" "r.(?)" "p.(Thr1537=)" ""
"0000256937" "00001847" "10" "468" "0" "468" "0" "c.468C>T" "r.(?)" "p.(Ile156=)" ""
"0000256940" "00001847" "30" "4925" "0" "4925" "0" "c.4925G>T" "r.(?)" "p.(Ser1642Ile)" ""
"0000256941" "00001847" "90" "5196" "1056" "5196" "1056" "c.5196+1056A>G" "r.(=)" "p.(=)" ""
"0000256942" "00001847" "30" "5196" "1136" "5196" "1136" "c.5196+1136C>A" "r.(=)" "p.(=)" ""
"0000256943" "00001847" "90" "5196" "1137" "5196" "1137" "c.5196+1137G>T" "r.(=)" "p.(=)" ""
"0000256944" "00001847" "90" "5196" "1159" "5196" "1159" "c.5196+1159G>A" "r.(=)" "p.(=)" ""
"0000256945" "00001847" "90" "5196" "1216" "5196" "1216" "c.5196+1216C>A" "r.(=)" "p.(=)" ""
"0000256947" "00001847" "10" "5584" "10" "5584" "10" "c.5584+10A>G" "r.(=)" "p.(=)" ""
"0000256948" "00001847" "50" "560" "0" "560" "0" "c.560G>A" "r.(?)" "p.(Arg187His)" ""
"0000256950" "00001847" "50" "5693" "0" "5693" "0" "c.5693G>A" "r.(?)" "p.(Arg1898His)" ""
"0000256951" "00001847" "90" "570" "1798" "570" "1798" "c.570+1798A>G" "r.(=)" "p.(=)" ""
"0000256953" "00001847" "50" "575" "0" "575" "0" "c.575C>T" "r.(?)" "p.(Ala192Val)" ""
"0000256954" "00001847" "50" "5774" "0" "5774" "0" "c.5774G>T" "r.(?)" "p.(Arg1925Ile)" ""
"0000256957" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000256958" "00001847" "10" "5898" "20" "5898" "20" "c.5898+20C>T" "r.(=)" "p.(=)" ""
"0000256959" "00001847" "90" "6148" "-471" "6148" "-471" "c.6148-471C>T" "r.(=)" "p.(=)" ""
"0000256960" "00001847" "50" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" ""
"0000256961" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" ""
"0000256962" "00001847" "10" "6498" "0" "6498" "0" "c.6498C>T" "r.(?)" "p.(Ile2166=)" ""
"0000256963" "00001847" "50" "656" "0" "656" "0" "c.656G>C" "r.(?)" "p.(Arg219Thr)" ""
"0000256964" "00001847" "30" "768" "358" "768" "358" "c.768+358C>T" "r.(=)" "p.(=)" ""
"0000258699" "00001847" "10" "5682" "0" "5682" "0" "c.5682G>C" "r.(?)" "p.(Leu1894=)" ""
"0000258700" "00001847" "10" "5814" "0" "5814" "0" "c.5814A>G" "r.(?)" "p.(Leu1938=)" ""
"0000258701" "00001847" "10" "5836" "-11" "5836" "-11" "c.5836-11G>A" "r.(=)" "p.(=)" ""
"0000258828" "00001847" "10" "1240" "-14" "1240" "-14" "c.1240-14C>T" "r.(=)" "p.(=)" ""
"0000258829" "00001847" "10" "141" "0" "141" "0" "c.141=" "r.(=)" "p.(Pro47=)" ""
"0000258830" "00001847" "10" "2918" "942" "2918" "942" "c.2918+942C>T" "r.(=)" "p.(=)" ""
"0000258831" "00001847" "10" "5844" "0" "5844" "0" "c.5844A>G" "r.(?)" "p.(Pro1948=)" ""
"0000258832" "00001847" "10" "6006" "-16" "6006" "-16" "c.6006-16G>A" "r.(=)" "p.(=)" ""
"0000258833" "00001847" "10" "635" "0" "635" "0" "c.635G>A" "r.(?)" "p.(Arg212His)" ""
"0000261580" "00001847" "10" "1240" "-14" "1240" "-14" "c.1240-14C>T" "r.(=)" "p.(=)" ""
"0000261581" "00001847" "10" "1268" "0" "1268" "0" "c.1268A>G" "r.(?)" "p.(His423Arg)" ""
"0000261583" "00001847" "70" "1411" "0" "1411" "0" "c.1411G>A" "r.(?)" "p.(Glu471Lys)" ""
"0000261584" "00001847" "50" "1477" "0" "1477" "0" "c.1477G>A" "r.(?)" "p.(Asp493Asn)" ""
"0000261585" "00001847" "30" "1500" "0" "1500" "0" "c.1500G>A" "r.(?)" "p.(Arg500=)" ""
"0000261586" "00001847" "50" "1532" "0" "1532" "0" "c.1532G>A" "r.(?)" "p.(Arg511His)" ""
"0000261587" "00001847" "50" "1715" "0" "1715" "0" "c.1715G>A" "r.(?)" "p.(Arg572Gln)" ""
"0000261588" "00001847" "70" "1957" "0" "1957" "0" "c.1957C>T" "r.(?)" "p.(Arg653Cys)" ""
"0000261589" "00001847" "30" "2313" "0" "2313" "0" "c.2313C>T" "r.(?)" "p.(Thr771=)" ""
"0000261591" "00001847" "50" "2690" "0" "2690" "0" "c.2690C>T" "r.(?)" "p.(Thr897Ile)" ""
"0000261592" "00001847" "50" "2701" "0" "2701" "0" "c.2701A>G" "r.(?)" "p.(Thr901Ala)" ""
"0000261593" "00001847" "30" "2877" "0" "2877" "0" "c.2877C>T" "r.(?)" "p.(Thr959=)" ""
"0000261594" "00001847" "10" "302" "26" "302" "26" "c.302+26A>G" "r.(=)" "p.(=)" ""
"0000261595" "00001847" "30" "3288" "0" "3288" "0" "c.3288G>A" "r.(?)" "p.(Ser1096=)" ""
"0000261596" "00001847" "50" "3547" "0" "3547" "0" "c.3547G>T" "r.(?)" "p.(Gly1183Cys)" ""
"0000261597" "00001847" "90" "3617" "0" "3617" "0" "c.3617del" "r.(?)" "p.(Asn1206MetfsTer3)" ""
"0000261598" "00001847" "50" "3637" "0" "3637" "0" "c.3637C>T" "r.(?)" "p.(Leu1213Phe)" ""
"0000261599" "00001847" "30" "4050" "0" "4050" "0" "c.4050G>C" "r.(?)" "p.(Leu1350=)" ""
"0000261600" "00001847" "10" "4203" "0" "4203" "0" "c.4203C>A" "r.(?)" "p.(Pro1401=)" ""
"0000261601" "00001847" "90" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" ""
"0000261602" "00001847" "90" "4506" "0" "4506" "0" "c.4506C>A" "r.(?)" "p.(Cys1502Ter)" ""
"0000261603" "00001847" "10" "4539" "1702" "4539" "1702" "c.4539+1702A>G" "r.(=)" "p.(=)" ""
"0000261604" "00001847" "90" "4539" "1729" "4539" "1729" "c.4539+1729G>T" "r.(=)" "p.(=)" ""
"0000261605" "00001847" "10" "4539" "1770" "4539" "1770" "c.4539+1770C>A" "r.(=)" "p.(=)" ""
"0000261606" "00001847" "90" "4539" "2001" "4539" "2001" "c.4539+2001G>A" "r.(=)" "p.(=)" ""
"0000261607" "00001847" "10" "4539" "2029" "4539" "2029" "c.4539+2029C>G" "r.(=)" "p.(=)" ""
"0000261608" "00001847" "50" "4771" "0" "4771" "0" "c.4771G>A" "r.(?)" "p.(Gly1591Arg)" ""
"0000261609" "00001847" "30" "4773" "10" "4773" "10" "c.4773+10C>T" "r.(=)" "p.(=)" ""
"0000261610" "00001847" "10" "4774" "-17" "4774" "-16" "c.4774-17_4774-16del" "r.(=)" "p.(=)" ""
"0000261611" "00001847" "30" "5018" "8" "5018" "8" "c.5018+8A>G" "r.(=)" "p.(=)" ""
"0000261612" "00001847" "50" "514" "0" "514" "0" "c.514G>A" "r.(?)" "p.(Gly172Ser)" ""
"0000261613" "00001847" "90" "5196" "1056" "5196" "1056" "c.5196+1056A>G" "r.(=)" "p.(=)" ""
"0000261614" "00001847" "50" "5196" "1136" "5196" "1136" "c.5196+1136C>A" "r.(=)" "p.(=)" ""
"0000261615" "00001847" "90" "5196" "1137" "5196" "1137" "c.5196+1137G>T" "r.(=)" "p.(=)" ""
"0000261616" "00001847" "50" "5196" "1159" "5196" "1159" "c.5196+1159G>A" "r.(=)" "p.(=)" ""
"0000261617" "00001847" "90" "5196" "1216" "5196" "1216" "c.5196+1216C>A" "r.(=)" "p.(=)" ""
"0000261618" "00001847" "10" "5461" "-51" "5461" "-51" "c.5461-51del" "r.(=)" "p.(=)" ""
"0000261619" "00001847" "50" "5513" "0" "5513" "0" "c.5513A>G" "r.(?)" "p.(His1838Arg)" ""
"0000261620" "00001847" "50" "5642" "0" "5642" "0" "c.5642C>T" "r.(?)" "p.(Ala1881Val)" ""
"0000261621" "00001847" "10" "5682" "0" "5682" "0" "c.5682G>C" "r.(?)" "p.(Leu1894=)" ""
"0000261622" "00001847" "50" "5693" "0" "5693" "0" "c.5693G>A" "r.(?)" "p.(Arg1898His)" ""
"0000261623" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl?" "p.?" ""
"0000261624" "00001847" "10" "5715" "-25" "5715" "-25" "c.5715-25A>C" "r.(=)" "p.(=)" ""
"0000261625" "00001847" "10" "5814" "0" "5814" "0" "c.5814A>G" "r.(?)" "p.(Leu1938=)" ""
"0000261626" "00001847" "10" "5836" "-11" "5836" "-11" "c.5836-11G>A" "r.(=)" "p.(=)" ""
"0000261627" "00001847" "10" "5844" "0" "5844" "0" "c.5844A>G" "r.(?)" "p.(Pro1948=)" ""
"0000261628" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000261629" "00001847" "10" "6006" "-16" "6006" "-16" "c.6006-16G>A" "r.(=)" "p.(=)" ""
"0000261632" "00001847" "50" "618" "0" "618" "0" "c.618C>G" "r.(?)" "p.(Ser206Arg)" ""
"0000261633" "00001847" "50" "667" "0" "667" "0" "c.667A>C" "r.(?)" "p.(Lys223Gln)" ""
"0000261634" "00001847" "50" "677" "0" "677" "0" "c.677G>A" "r.(?)" "p.(Arg226His)" ""
"0000261635" "00001847" "50" "6806" "0" "6806" "0" "c.6806G>A" "r.(?)" "p.(Arg2269Gln)" ""
"0000261636" "00001847" "70" "71" "0" "71" "0" "c.71G>A" "r.(?)" "p.(Arg24His)" ""
"0000261637" "00001847" "50" "763" "0" "763" "0" "c.763C>T" "r.(?)" "p.(Arg255Cys)" ""
"0000261638" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.(?)" "p.(Val256=)" ""
"0000261639" "00001847" "30" "981" "0" "981" "0" "c.981C>T" "r.(?)" "p.(Pro327=)" ""
"0000336341" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000336342" "00001847" "30" "466" "0" "466" "0" "c.466A>G" "r.(?)" "p.(Ile156Val)" "5"
"0000338914" "00001847" "10" "6832" "0" "6832" "0" "c.*10C>A" "r.(=)" "p.(=)" ""
"0000338915" "00001847" "10" "6730" "-3" "6730" "-3" "c.6730-3T>C" "r.spl?" "p.?" ""
"0000338916" "00001847" "50" "6730" "-19" "6730" "-19" "c.6730-19G>A" "r.(=)" "p.(=)" ""
"0000338917" "00001847" "70" "6386" "2" "6386" "2" "c.6386+2C>G" "r.spl?" "p.?" ""
"0000338918" "00001847" "10" "6282" "7" "6282" "7" "c.6282+7G>A" "r.(=)" "p.(=)" ""
"0000338919" "00001847" "10" "6006" "-16" "6006" "-16" "c.6006-16G>A" "r.(=)" "p.(=)" ""
"0000338920" "00001847" "10" "6005" "17" "6005" "17" "c.6005+17T>C" "r.(=)" "p.(=)" ""
"0000338921" "00001847" "10" "5836" "-11" "5836" "-11" "c.5836-11G>A" "r.(=)" "p.(=)" ""
"0000338923" "00001847" "90" "5312" "1" "5312" "1" "c.5312+1G>A" "r.spl?" "p.?" ""
"0000338924" "00001847" "50" "5196" "1159" "5196" "1159" "c.5196+1159G>A" "r.(=)" "p.(=)" ""
"0000338925" "00001847" "70" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.(=)" "p.(=)" ""
"0000338926" "00001847" "30" "5196" "20" "5196" "20" "c.5196+20G>A" "r.(=)" "p.(=)" ""
"0000338927" "00001847" "90" "5196" "1" "5196" "1" "c.5196+1G>T" "r.spl?" "p.?" ""
"0000338928" "00001847" "90" "5018" "2" "5018" "2" "c.5018+2T>C" "r.spl?" "p.?" ""
"0000338930" "00001847" "90" "4540" "-2" "4540" "-2" "c.4540-2A>G" "r.spl?" "p.?" ""
"0000338931" "00001847" "90" "4539" "2001" "4539" "2001" "c.4539+2001G>A" "r.(=)" "p.(=)" ""
"0000338932" "00001847" "90" "4539" "1" "4539" "1" "c.4539+1G>T" "r.spl?" "p.?" ""
"0000338933" "00001847" "70" "3191" "-2" "3191" "0" "c.3191-2_3191del" "r.spl?" "p.?" ""
"0000338934" "00001847" "70" "2382" "2" "2382" "2" "c.2382+2T>C" "r.spl?" "p.?" ""
"0000338935" "00001847" "90" "2160" "1" "2160" "1" "c.2160+1G>T" "r.spl?" "p.?" ""
"0000338936" "00001847" "90" "1937" "1" "1937" "1" "c.1937+1G>T" "r.spl?" "p.?" ""
"0000338938" "00001847" "10" "1240" "-14" "1240" "-14" "c.1240-14C>T" "r.(=)" "p.(=)" ""
"0000338939" "00001847" "10" "302" "20" "302" "20" "c.302+20C>T" "r.(=)" "p.(=)" ""
"0000340571" "00001847" "10" "6285" "0" "6285" "0" "c.6285T>C" "r.(?)" "p.(Asp2095=)" ""
"0000340572" "00001847" "10" "6249" "0" "6249" "0" "c.6249C>T" "r.(?)" "p.(Ile2083=)" ""
"0000340573" "00001847" "10" "6069" "0" "6069" "0" "c.6069T>C" "r.(?)" "p.(Ile2023=)" ""
"0000340574" "00001847" "10" "5844" "0" "5844" "0" "c.5844A>G" "r.(?)" "p.(Pro1948=)" ""
"0000340575" "00001847" "10" "5814" "0" "5814" "0" "c.5814A>G" "r.(?)" "p.(Leu1938=)" ""
"0000340576" "00001847" "10" "5682" "0" "5682" "0" "c.5682G>C" "r.(?)" "p.(Leu1894=)" ""
"0000340578" "00001847" "10" "4203" "0" "4203" "0" "c.4203C>A" "r.(?)" "p.(Pro1401=)" ""
"0000340579" "00001847" "30" "4050" "0" "4050" "0" "c.4050G>C" "r.(?)" "p.(Leu1350=)" ""
"0000340580" "00001847" "10" "1269" "0" "1269" "0" "c.1269C>T" "r.(?)" "p.(His423=)" ""
"0000340709" "00001847" "10" "237" "0" "237" "0" "c.237T>C" "r.(?)" "p.(Asn79=)" ""
"0000340738" "00001847" "30" "4506" "0" "4506" "0" "c.4506C>T" "r.(?)" "p.(Cys1502=)" ""
"0000341096" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000341195" "00001847" "70" "4793" "0" "4793" "0" "c.4793C>A" "r.(?)" "p.(Ala1598Asp)" ""
"0000341717" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" ""
"0000341736" "00001847" "70" "3385" "0" "3385" "0" "c.3385C>T" "r.(?)" "p.(Arg1129Cys)" ""
"0000341836" "00001847" "10" "3899" "0" "3899" "0" "c.3899G>A" "r.(?)" "p.(Arg1300Gln)" ""
"0000341965" "00001847" "90" "454" "0" "454" "0" "c.454C>T" "r.(?)" "p.(Arg152Ter)" ""
"0000342145" "00001847" "50" "5693" "0" "5693" "0" "c.5693G>A" "r.(?)" "p.(Arg1898His)" ""
"0000342234" "00001847" "90" "6316" "0" "6316" "0" "c.6316C>T" "r.(?)" "p.(Arg2106Cys)" ""
"0000342235" "00001847" "70" "6319" "0" "6319" "0" "c.6319C>T" "r.(?)" "p.(Arg2107Cys)" ""
"0000342242" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" ""
"0000342247" "00001847" "10" "635" "0" "635" "0" "c.635G>A" "r.(?)" "p.(Arg212His)" ""
"0000342251" "00001847" "90" "6445" "0" "6445" "0" "c.6445C>T" "r.(?)" "p.(Arg2149Ter)" ""
"0000342282" "00001847" "50" "656" "0" "656" "0" "c.656G>C" "r.(?)" "p.(Arg219Thr)" ""
"0000342314" "00001847" "50" "677" "0" "677" "0" "c.677G>A" "r.(?)" "p.(Arg226His)" ""
"0000342411" "00001847" "70" "70" "0" "70" "0" "c.70C>T" "r.(?)" "p.(Arg24Cys)" ""
"0000342413" "00001847" "90" "71" "0" "71" "0" "c.71G>A" "r.(?)" "p.(Arg24His)" ""
"0000342549" "00001847" "90" "868" "0" "868" "0" "c.868C>T" "r.(?)" "p.(Arg290Trp)" ""
"0000343257" "00001847" "90" "2041" "0" "2041" "0" "c.2041C>T" "r.(?)" "p.(Arg681Ter)" ""
"0000343500" "00001847" "10" "2828" "0" "2828" "0" "c.2828G>A" "r.(?)" "p.(Arg943Gln)" ""
"0000343644" "00001847" "90" "6155" "0" "6155" "0" "c.6155del" "r.(?)" "p.(Asn2052ThrfsTer9)" ""
"0000343668" "00001847" "50" "740" "0" "740" "0" "c.740A>T" "r.(?)" "p.(Asn247Ile)" ""
"0000343736" "00001847" "30" "1140" "0" "1140" "0" "c.1140T>A" "r.(?)" "p.(Asn380Lys)" ""
"0000343851" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" ""
"0000343853" "00001847" "50" "288" "0" "288" "0" "c.288C>A" "r.(?)" "p.(Asn96Lys)" ""
"0000343857" "00001847" "50" "294" "0" "294" "0" "c.294C>G" "r.(?)" "p.(Asn98Lys)" ""
"0000344206" "00001847" "70" "2743" "0" "2743" "0" "c.2743G>A" "r.(?)" "p.(Asp915Asn)" ""
"0000344279" "00001847" "90" "4462" "0" "4462" "0" "c.4462T>C" "r.(?)" "p.(Cys1488Arg)" ""
"0000344280" "00001847" "90" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" ""
"0000344282" "00001847" "90" "4506" "0" "4506" "0" "c.4506C>A" "r.(?)" "p.(Cys1502Ter)" ""
"0000344299" "00001847" "50" "5900" "0" "5900" "0" "c.5900G>A" "r.(?)" "p.(Cys1967Tyr)" ""
"0000344312" "00001847" "90" "6411" "0" "6411" "0" "c.6411T>A" "r.(?)" "p.(Cys2137Ter)" ""
"0000344553" "00001847" "90" "4234" "0" "4234" "0" "c.4234C>T" "r.(?)" "p.(Gln1412Ter)" ""
"0000344654" "00001847" "90" "61" "0" "61" "0" "c.61C>T" "r.(?)" "p.(Gln21Ter)" ""
"0000344670" "00001847" "90" "6658" "0" "6658" "0" "c.6658C>T" "r.(?)" "p.(Gln2220Ter)" ""
"0000344918" "00001847" "90" "1834" "0" "1834" "0" "c.1834C>T" "r.(?)" "p.(Gln612Ter)" ""
"0000344987" "00001847" "50" "2522" "0" "2522" "0" "c.2522A>C" "r.(?)" "p.(Gln841Pro)" ""
"0000345063" "00001847" "70" "3364" "0" "3364" "0" "c.3364G>A" "r.(?)" "p.(Glu1122Lys)" ""
"0000345100" "00001847" "90" "3813" "20" "3813" "20" "c.3813+20T>G" "r.(=)" "p.(=)" ""
"0000345443" "00001847" "50" "1411" "0" "1411" "0" "c.1411G>A" "r.(?)" "p.(Glu471Lys)" ""
"0000345741" "00001847" "70" "4519" "0" "4519" "0" "c.4519G>A" "r.(?)" "p.(Gly1507Arg)" ""
"0000345757" "00001847" "30" "4771" "0" "4771" "0" "c.4771G>A" "r.(?)" "p.(Gly1591Arg)" ""
"0000345791" "00001847" "50" "514" "0" "514" "0" "c.514G>A" "r.(?)" "p.(Gly172Ser)" ""
"0000345827" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000345829" "00001847" "70" "5914" "0" "5914" "0" "c.5914G>A" "r.(?)" "p.(Gly1972Arg)" ""
"0000346193" "00001847" "70" "1853" "0" "1853" "0" "c.1853G>A" "r.(?)" "p.(Gly618Glu)" ""
"0000346273" "00001847" "90" "232" "0" "232" "0" "c.232A>G" "r.(?)" "p.(Asn78Asp)" ""
"0000346305" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.(Gly863Ala)" ""
"0000346398" "00001847" "50" "5821" "0" "5821" "0" "c.5821C>T" "r.(?)" "p.(His1941Tyr)" ""
"0000346472" "00001847" "10" "1268" "0" "1268" "0" "c.1268A>G" "r.(?)" "p.(His423Arg)" ""
"0000346591" "00001847" "30" "466" "0" "466" "0" "c.466A>G" "r.(?)" "p.(Ile156Val)" ""
"0000346928" "00001847" "70" "4892" "0" "4892" "0" "c.4892T>C" "r.(?)" "p.(Leu1631Pro)" ""
"0000346968" "00001847" "90" "5813" "0" "5813" "0" "c.5813T>G" "r.(?)" "p.(Leu1938Ter)" ""
"0000346978" "00001847" "90" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" ""
"0000346999" "00001847" "70" "6545" "0" "6580" "0" "c.6545_6580del" "r.(?)" "p.(Leu2182_Phe2193del)" ""
"0000347218" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" ""
"0000348077" "00001847" "90" "1822" "0" "1822" "0" "c.1822T>A" "r.(?)" "p.(Phe608Ile)" ""
"0000348085" "00001847" "50" "1964" "0" "1964" "0" "c.1964T>G" "r.(?)" "p.(Phe655Cys)" ""
"0000348190" "00001847" "50" "4183" "0" "4183" "0" "c.4183C>T" "r.(?)" "p.(Pro1395Ser)" ""
"0000348199" "00001847" "50" "4402" "0" "4402" "0" "c.4402C>G" "r.(?)" "p.(Pro1468Ala)" ""
"0000348260" "00001847" "10" "5843" "0" "5843" "0" "c.5843C>T" "r.(?)" "p.(Pro1948Leu)" ""
"0000348261" "00001847" "50" "587" "0" "587" "0" "c.587C>T" "r.(?)" "p.(Pro196Leu)" ""
"0000348646" "00001847" "70" "3212" "0" "3212" "0" "c.3212C>T" "r.(?)" "p.(Ser1071Leu)" ""
"0000348686" "00001847" "50" "3734" "0" "3734" "0" "c.3734G>A" "r.(?)" "p.(Ser1245Asn)" ""
"0000348701" "00001847" "50" "3962" "0" "3962" "0" "c.3962C>T" "r.(?)" "p.(Ser1321Phe)" ""
"0000348840" "00001847" "10" "6764" "0" "6764" "0" "c.6764G>T" "r.(?)" "p.(Ser2255Ile)" ""
"0000349236" "00001847" "50" "3191" "-9" "3191" "-9" "c.3191-9T>C" "r.(=)" "p.(=)" ""
"0000349266" "00001847" "50" "3758" "0" "3758" "0" "c.3758C>T" "r.(?)" "p.(Thr1253Met)" ""
"0000349292" "00001847" "90" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" ""
"0000349366" "00001847" "50" "671" "0" "671" "0" "c.671C>T" "r.(?)" "p.(Thr224Met)" ""
"0000349650" "00001847" "50" "2690" "0" "2690" "0" "c.2690C>T" "r.(?)" "p.(Thr897Ile)" ""
"0000349653" "00001847" "30" "2701" "0" "2701" "0" "c.2701A>G" "r.(?)" "p.(Thr901Ala)" ""
"0000349666" "00001847" "90" "2947" "0" "2947" "0" "c.2947A>G" "r.(?)" "p.(Thr983Ala)" ""
"0000349796" "00001847" "90" "122" "0" "122" "0" "c.122G>A" "r.(?)" "p.(Trp41Ter)" ""
"0000349803" "00001847" "50" "1317" "0" "1317" "0" "c.1317G>C" "r.(?)" "p.(Trp439Cys)" ""
"0000349861" "00001847" "90" "2564" "0" "2564" "0" "c.2564G>A" "r.(?)" "p.(Trp855Ter)" ""
"0000350049" "00001847" "50" "1019" "0" "1019" "0" "c.1019A>G" "r.(?)" "p.(Tyr340Cys)" ""
"0000350050" "00001847" "50" "1018" "0" "1018" "0" "c.1018T>C" "r.(?)" "p.(Tyr340His)" ""
"0000350058" "00001847" "50" "1085" "0" "1085" "0" "c.1085A>G" "r.(?)" "p.(Tyr362Cys)" ""
"0000350294" "00001847" "30" "4297" "0" "4297" "0" "c.4297G>A" "r.(?)" "p.(Val1433Ile)" ""
"0000350340" "00001847" "50" "5056" "0" "5056" "0" "c.5056G>A" "r.(?)" "p.(Val1686Met)" ""
"0000350377" "00001847" "90" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973Ter)" ""
"0000350379" "00001847" "70" "6029" "0" "6029" "0" "c.6029T>G" "r.(?)" "p.(Val2010Gly)" ""
"0000350384" "00001847" "30" "6148" "0" "6148" "0" "c.6148G>C" "r.(?)" "p.(Val2050Leu)" ""
"0000350621" "00001847" "30" "1928" "0" "1928" "0" "c.1928T>G" "r.(?)" "p.(Val643Gly)" ""
"0000350629" "00001847" "90" "2023" "0" "2023" "0" "c.2023G>A" "r.(?)" "p.(Val675Ile)" ""
"0000350656" "00001847" "70" "2300" "0" "2300" "0" "c.2300T>A" "r.(?)" "p.(Val767Asp)" ""
"0000350676" "00001847" "50" "2546" "0" "2546" "0" "c.2546T>C" "r.(?)" "p.(Val849Ala)" ""
"0000351450" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl?" "p.?" ""
"0000351451" "00001847" "50" "5584" "6" "5584" "6" "c.5584+6T>C" "r.(=)" "p.(=)" ""
"0000351452" "00001847" "50" "5461" "-8" "5461" "-8" "c.5461-8T>G" "r.(=)" "p.(=)" ""
"0000351453" "00001847" "90" "5313" "-2" "5313" "-2" "c.5313-2A>C" "r.spl?" "p.?" ""
"0000351454" "00001847" "90" "5196" "1" "5196" "1" "c.5196+1G>A" "r.spl?" "p.?" ""
"0000351456" "00001847" "90" "4773" "1" "4773" "1" "c.4773+1G>A" "r.spl?" "p.?" ""
"0000351457" "00001847" "10" "4539" "2029" "4539" "2029" "c.4539+2029C>G" "r.(=)" "p.(=)" ""
"0000351458" "00001847" "90" "4352" "1" "4352" "1" "c.4352+1G>A" "r.spl?" "p.?" ""
"0000351459" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" ""
"0000351460" "00001847" "50" "3862" "3" "3862" "3" "c.3862+3A>G" "r.spl?" "p.?" ""
"0000351461" "00001847" "70" "2382" "4" "2382" "4" "c.2382+4A>G" "r.spl?" "p.?" ""
"0000351462" "00001847" "90" "1938" "-1" "1938" "-1" "c.1938-1G>A" "r.spl?" "p.?" ""
"0000351463" "00001847" "50" "1937" "13" "1937" "13" "c.1937+13T>G" "r.(=)" "p.(=)" ""
"0000351464" "00001847" "70" "1715" "0" "1715" "0" "c.1715G>A" "r.(?)" "p.(Arg572Gln)" ""
"0000351465" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.(?)" "p.(Val256=)" ""
"0000351738" "00001847" "90" "5380" "0" "5380" "0" "c.5380G>C" "r.(?)" "p.(Ala1794Pro)" "38"
"0000352699" "00001847" "97" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000352700" "00001847" "97" "214" "0" "214" "0" "c.214G>A" "r.(?)" "p.(Gly72Arg)" "3"
"0000352701" "00001847" "97" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000352702" "00001847" "97" "214" "0" "214" "0" "c.214G>A" "r.(?)" "p.(Gly72Arg)" "3"
"0000352703" "00001847" "97" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000352704" "00001847" "90" "216" "0" "216" "0" "c.216dup" "r.(?)" "p.(Ile73Aspfs*26)" "3"
"0000352715" "00001847" "97" "6229" "0" "6229" "0" "c.6229C>T" "r.(?)" "p.(Arg2077Trp)" "45"
"0000352717" "00001847" "97" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000352718" "00001847" "97" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000352719" "00001847" "97" "3272" "0" "3272" "0" "c.3272G>A" "r.(?)" "p.(Gly1091Glu)" "22"
"0000352720" "00001847" "97" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,spl]" "p.([=,Glu1863Leufs*33])" "40i"
"0000352721" "00001847" "99" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.(Thr1821Aspfs*6)" "38i"
"0000352722" "00001847" "97" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000352770" "00001847" "90" "1099" "1" "1099" "1" "c.1099+1G>C" "r.spl" "p.?" "8i"
"0000352771" "00001847" "97" "1343" "0" "1343" "0" "c.1343T>A" "r.(?)" "p.(Met448Lys)" "10"
"0000352772" "00001847" "97" "4069" "0" "4069" "0" "c.4069G>A" "r.(?)" "p.(Ala1357Thr)" "27"
"0000353740" "00001847" "55" "1654" "0" "1654" "0" "c.1654G>A" "r.(?)" "p.(Val552Ile)" "12"
"0000358104" "00001847" "70" "6563" "0" "6563" "0" "c.6563T>C" "r.(?)" "p.(Phe2188Ser)" "48"
"0000358105" "00001847" "70" "6563" "0" "6563" "0" "c.6563T>C" "r.(?)" "p.(Phe2188Ser)" "48"
"0000358106" "00001847" "70" "6563" "0" "6563" "0" "c.6563T>C" "r.(?)" "p.(Phe2188Ser)" "48"
"0000358107" "00001847" "70" "6386" "0" "6386" "0" "c.6386G>A" "r.(?)" "p.(Ser2129Asn)" "46"
"0000358108" "00001847" "90" "6077" "0" "6077" "0" "c.6077del" "r.(?)" "p.(Leu2026Argfs*35)" "44"
"0000358109" "00001847" "90" "6077" "0" "6077" "0" "c.6077del" "r.(?)" "p.(Leu2026Argfs*35)" "44"
"0000358110" "00001847" "70" "5929" "0" "5929" "0" "c.5929G>A" "r.(?)" "p.(Gly1977Ser)" "43"
"0000358111" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000358112" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000358113" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000358114" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000358115" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000358116" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000358117" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000358118" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000358119" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000358120" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000358121" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000358122" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000358123" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000358124" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000358125" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000358126" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000358127" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000358128" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl?" "p.(?)" "40i"
"0000358129" "00001847" "90" "5380" "0" "5380" "0" "c.5380G>C" "r.(?)" "p.(Ala1794Pro)" "38"
"0000358130" "00001847" "70" "5351" "0" "5351" "0" "c.5351T>G" "r.(?)" "p.(Leu1784Arg)" "38"
"0000358131" "00001847" "90" "5333" "0" "5336" "0" "c.5333_5336del" "r.(?)" "p.(Met1778Thrfs*51)" "38"
"0000358132" "00001847" "70" "5318" "0" "5318" "0" "c.5318C>T" "r.(?)" "p.(Ala1773Val)" "38"
"0000358133" "00001847" "90" "5312" "1" "5312" "1" "c.5312+1G>A" "r.spl" "p.?" "37i"
"0000358134" "00001847" "90" "5169" "0" "5169" "0" "c.5169C>G" "r.(?)" "p.(Tyr1723*)" "36"
"0000358135" "00001847" "90" "5059" "0" "5059" "0" "c.5059del" "r.(?)" "p.(Ile1687Phefs*15)" "36"
"0000358136" "00001847" "70" "4979" "0" "4979" "0" "c.4979C>T" "r.(?)" "p.(Pro1660Leu)" "35"
"0000358137" "00001847" "70" "4979" "0" "4979" "0" "c.4979C>T" "r.(?)" "p.(Pro1660Leu)" "35"
"0000358138" "00001847" "70" "4979" "0" "4979" "0" "c.4979C>T" "r.(?)" "p.(Pro1660Leu)" "35"
"0000358139" "00001847" "70" "4919" "0" "4919" "0" "c.4919G>A" "r.(?)" "p.(Arg1640Gln)" "35"
"0000358140" "00001847" "70" "4919" "0" "4919" "0" "c.4919G>A" "r.(?)" "p.(Arg1640Gln)" "35"
"0000358141" "00001847" "70" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" "31"
"0000358142" "00001847" "90" "4537" "0" "4537" "0" "c.4537dup" "r.(?)" "p.(Gln1513Profs*42)" "30"
"0000358143" "00001847" "70" "4457" "0" "4457" "0" "c.4457C>T" "r.(?)" "P.(Pro1486Leu)" "30"
"0000358144" "00001847" "70" "4457" "0" "4457" "0" "c.4457C>T" "r.(?)" "P.(Pro1486Leu)" "30"
"0000358145" "00001847" "90" "4254" "-15" "4254" "-15" "c.4254-15del" "r.spl?" "p.(?)" "28i"
"0000358146" "00001847" "90" "4254" "-15" "4254" "-15" "c.4254-15del" "r.spl?" "p.(?)" "28i"
"0000358147" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000358148" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000358149" "00001847" "70" "3608" "0" "3608" "0" "c.3608G>A" "r.(?)" "p.(Gly1203Glu)" "25"
"0000358150" "00001847" "90" "3050" "5" "3050" "5" "c.3050+5G>A" "r.spl?" "p.?" "20i"
"0000358151" "00001847" "70" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000358152" "00001847" "70" "2791" "0" "2791" "0" "c.2791G>A" "r.(?)" "p.(Val931Met)" "19"
"0000358153" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.(Gly863Ala)" "17"
"0000358154" "00001847" "70" "2294" "0" "2294" "0" "c.2294G>A" "r.(?)" "p.(Ser765Asn)" "16"
"0000358155" "00001847" "90" "1172" "0" "1172" "0" "c.1172del" "r.(?)" "p.(Lys391Serfs*4)" "9"
"0000358156" "00001847" "90" "834" "0" "834" "0" "c.834del" "r.(?)" "p.(Asp279Ilefs*21)" "7"
"0000358157" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000358158" "00001847" "90" "5460" "1" "5460" "1" "c.5460+1G>A" "r.spl" "p.?" "38i"
"0000358159" "00001847" "90" "5460" "1" "5460" "1" "c.5460+1G>A" "r.spl" "p.?" "38i"
"0000358379" "00001847" "90" "5380" "0" "5380" "0" "c.5380G>C" "r.(?)" "p.(Ala1794Pro)" "38"
"0000358380" "00001847" "90" "5380" "0" "5380" "0" "c.5380G>C" "r.(?)" "p.(Ala1794Pro)" "38"
"0000358381" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000358382" "00001847" "70" "4793" "0" "4793" "0" "c.4793C>A" "r.(?)" "p.(Ala1598Asp)" "34"
"0000358383" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000358384" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000358385" "00001847" "90" "3056" "0" "3056" "0" "c.3056C>T" "r.(?)" "p.(Thr1019Met)" "21"
"0000358386" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000358387" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000358388" "00001847" "90" "4895" "0" "4895" "0" "c.4895dup" "r.(?)" "p.(Asn1632Lysfs*14)" "35"
"0000358389" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000358390" "00001847" "70" "4919" "0" "4919" "0" "c.4919G>A" "r.(?)" "p.(Arg1640Gln)" "35"
"0000358391" "00001847" "90" "5059" "0" "5059" "0" "c.5059del" "r.(?)" "p.(Ile1687Phefs*15)" "36"
"0000358392" "00001847" "90" "3050" "5" "3050" "5" "c.3050+5G>A" "r.spl?" "p.?" "20i"
"0000358393" "00001847" "70" "1846" "0" "1846" "0" "c.1846G>A" "r.(?)" "p.(Glu616Lys)" "13"
"0000358394" "00001847" "70" "5822" "0" "5822" "0" "c.5822A>C" "r.(?)" "p.(His1941Pro)" "41"
"0000358395" "00001847" "90" "5189" "0" "5189" "0" "c.5189G>A" "r.(?)" "p.(Trp1730*)" "36"
"0000358396" "00001847" "70" "4594" "0" "4594" "0" "c.4594G>A" "r.(?)" "p.(Asp1532Asn)" "31"
"0000358397" "00001847" "90" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.0?" "1"
"0000358398" "00001847" "70" "4457" "0" "4457" "0" "c.4457C>T" "r.(?)" "P.(Pro1486Leu)" "30"
"0000358399" "00001847" "90" "5059" "0" "5059" "0" "c.5059del" "r.(?)" "p.(Ile1687Phefs*15)" "36"
"0000358400" "00001847" "70" "4919" "0" "4919" "0" "c.4919G>A" "r.(?)" "p.(Arg1640Gln)" "35"
"0000358401" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000358402" "00001847" "70" "4457" "0" "4457" "0" "c.4457C>T" "r.(?)" "P.(Pro1486Leu)" "30"
"0000358403" "00001847" "90" "4254" "-15" "4254" "-15" "c.4254-15del" "r.spl?" "p.(?)" "28i"
"0000358404" "00001847" "70" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000358405" "00001847" "70" "1411" "0" "1411" "0" "c.1411G>A" "r.(?)" "p.(Glu471Lys)" "11"
"0000358406" "00001847" "90" "3449" "0" "3451" "0" "c.3449_3451del" "r.(?)" "p.(Cys1150del)" "23"
"0000358407" "00001847" "70" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000358408" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000358409" "00001847" "70" "1411" "0" "1411" "0" "c.1411G>A" "r.(?)" "p.(Glu471Lys)" "11"
"0000358410" "00001847" "70" "452" "0" "452" "0" "c.452T>C" "r.(?)" "p.(Ile151Thr)" "5"
"0000368458" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(1622u>c)" "p.(Leu541Pro)" "12"
"0000368459" "00001847" "97" "3113" "0" "3113" "0" "c.3113C>T" "r.(3113c>u)" "p.(Ala1038Val)" "21"
"0000368460" "00001847" "70" "4253" "43" "4253" "43" "c.4253+43G>A" "r.(?)" "p.(=)" "28i"
"0000368461" "00001847" "30" "6006" "-609" "6006" "-609" "c.6006-609T>A" "r.(?)" "p.(=)" "43i"
"0000369230" "00001847" "77" "859" "-9" "859" "-9" "c.859-9T>C" "r.spl" "p.?" "7i"
"0000369231" "00001847" "77" "303" "-3" "303" "-3" "c.303-3C>G" "r.spl" "p.?" "3i"
"0000369232" "00001847" "77" "70" "0" "70" "0" "c.70C>T" "r.(?)" "p.(Arg24Cys)" "2"
"0000369233" "00001847" "77" "1937" "13" "1937" "13" "c.1937+13T>G" "r.spl" "p.?" "13i"
"0000369234" "00001847" "90" "5461" "-8" "5461" "-8" "c.5461-8T>G" "r.spl" "p.?" "38i"
"0000392081" "00001847" "97" "4253" "5" "4253" "5" "c.4253+5G>A" "r.spl" "p.?" "28i"
"0000392082" "00001847" "70" "5898" "0" "5898" "0" "c.5898G>A" "r.spl?" "p.(Glu1966=)" "42"
"0000392084" "00001847" "55" "466" "0" "466" "0" "c.466A>G" "r.(?)" "p.(Ile156Val)" "5"
"0000392086" "00001847" "55" "6148" "0" "6148" "0" "c.6148G>C" "r.(?)" "p.(Val2050Leu)" "45"
"0000405595" "00001847" "70" "160" "5" "160" "5" "c.160+5G>C" "r.[=,67_160del,161_302delinsguaaccauagcagg]" "p.[(=,Ile23Alafs∗24,His55Asnfs∗63)]" "2i"
"0000405596" "00001847" "90" "161" "0" "161" "0" "c.161G>T" "r.161_302del" "p.(Cys54Serfs∗14)" "3"
"0000405597" "00001847" "90" "302" "4" "302" "4" "c.302+4A>C" "r.161_302del" "p.(Cys54Serfs∗14)" "3i"
"0000405598" "00001847" "90" "303" "-3" "303" "-3" "c.303-3C>G" "r.[161_302delinsag,302_303insag]" "p.[(Cys54∗,Leu102Alafs∗14)]" "3i"
"0000405599" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.[768g>u;768_769ins768+1_768+35]" "p.Leu257Valfs∗17" "6"
"0000405600" "00001847" "30" "859" "-9" "859" "-9" "c.859-9T>C" "r.[=,859_1356del]" "p.[(=,Phe287_Arg452del)]" "7i"
"0000405601" "00001847" "90" "1100" "-6" "1100" "-6" "c.1100-6T>A" "r.1099_1100insgcag" "p.(Thr367Serfs∗6)" "8i"
"0000405602" "00001847" "90" "1937" "13" "1937" "13" "c.1937+13T>G" "r.[1937_1938ins1937+1_1973+12,=]" "p.[(Phe647∗,=)]" "13i"
"0000405603" "00001847" "70" "2382" "5" "2382" "5" "c.2382+5G>C" "r.[=,2161_2382del]" "p.[(=,His721_Val794del)]" "15i"
"0000405604" "00001847" "30" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[(Gly863Ala,Gly863del)]" "17"
"0000405605" "00001847" "70" "2919" "-10" "2919" "-10" "c.2919-10T>C" "r.[=,2919_3050del]" "p.[(=,Leu973_His1017delinsPhe)]" "19i"
"0000405606" "00001847" "30" "2919" "-6" "2919" "-6" "c.2919-6C>A" "r.[=,2919_3050del]" "p.[(=,Leu973_His1017delinsPhe)]" "19i"
"0000405607" "00001847" "90" "3050" "5" "3050" "5" "c.3050+5G>A" "r.2919_3050del" "p.(Leu973_His1017delinsPhe)" "20i"
"0000405608" "00001847" "70" "3522" "5" "3522" "5" "c.3522+5del" "r.[=,3329_3522del]" "p.[(=,Arg1111Aspfs∗7)]" "23i"
"0000405609" "00001847" "90" "3607" "0" "3607" "0" "c.3607G>A" "r.3523_3607del" "p.(Thr1176Metfs∗2)" "24"
"0000405610" "00001847" "90" "3607" "3" "3607" "3" "c.3607+3A>T" "r.3523_3607del" "p.(Thr1176Metfs∗2)" "24i"
"0000405611" "00001847" "90" "3812" "0" "3812" "0" "c.3812A>G" "r.3608_3813del" "p.(Gly1203Aspfs∗10)" "25"
"0000405612" "00001847" "90" "3813" "0" "3813" "0" "c.3813G>C" "r.3608_3813del" "p.(Gly1203Aspfs∗10)" "25"
"0000405613" "00001847" "70" "3862" "3" "3862" "3" "c.3862+3A>G" "r.[=,3814_3862del]" "p.[(=,Ile1272Valfs∗101)]" "26i"
"0000405614" "00001847" "90" "4128" "0" "4128" "0" "c.4128G>A" "r.4128_4129ins4128+1_4128+12" "p.(Gln1376_Ile1377ins4)" "27"
"0000405615" "00001847" "90" "4253" "4" "4253" "4" "c.4253+4C>T" "r.4129_4253del" "p.(Ile1377Hisfs∗3)" "28i"
"0000405616" "00001847" "90" "4253" "5" "4253" "5" "c.4253+5G>A" "r.4129_4253del" "p.(Ile1377Hisfs∗3)" "28i"
"0000405617" "00001847" "90" "4253" "5" "4253" "5" "c.4253+5G>T" "r.[4129_4253del,=]" "p.[(Ile1377Hisfs∗3,=)]" "28i"
"0000405618" "00001847" "90" "4538" "0" "4538" "0" "c.4538A>G" "r.[4539_4540ins4539+1_4539+30,4467_4539del]" "p.[(Arg1513_Arg1514ins10,Cys1490Glufs∗12)]" "30"
"0000405619" "00001847" "90" "4538" "0" "4538" "0" "c.4538A>C" "r.[4539_4540ins4539+1_4539+30,4467_4539del,4538a>c]" "p.[(Pro1513_Arg1514ins10,Cys1490Glufs∗12,Gln1513Pro)]" "30"
"0000405620" "00001847" "10" "4634" "0" "4634" "0" "c.4634G>A" "r.4634g>a" "p.(Ser1545Asn)" "31"
"0000405621" "00001847" "90" "4667" "0" "4667" "0" "c.4667G>C" "r.4635_4667del" "p.(Ser1545_Gln1555del)" "32"
"0000405622" "00001847" "90" "4773" "0" "4773" "0" "c.4773G>C" "r.[4668_5018del,4668_4773del]" "p.[(Tyr1557_Val1673del,Tyr1557Alafs∗18)]" "33"
"0000405623" "00001847" "90" "4773" "3" "4773" "3" "c.4773+3A>G" "r.[4668_4773del,=]" "p.[(Tyr1557Alafs∗18,=)]" "33i"
"0000405624" "00001847" "90" "4773" "5" "4773" "5" "c.4773+5G>A" "r.[4668_4773del,=,4668_5018del]" "p.[(Tyr1557Alafs∗18,=,Tyr1557_Val1673del)]" "33i"
"0000405625" "00001847" "90" "5196" "3" "5196" "6" "c.5196+3_5196+6del" "r.4849_5196del" "p.(Val1617_Ile1732del)" "36i"
"0000405626" "00001847" "10" "5196" "3" "5196" "8" "c.5196+3_5196+8del" "r.=" "p.(=)" "36i"
"0000405627" "00001847" "90" "5312" "3" "5312" "3" "c.5312+3A>T" "r.5197_5312del" "p.(Asn1734Glyfs∗14)" "37i"
"0000405628" "00001847" "90" "5313" "-3" "5313" "-3" "c.5313-3C>G" "r.5312_5313insag" "p.(Trp1772Aspfs∗7)" "37i"
"0000405629" "00001847" "90" "5460" "5" "5460" "5" "c.5460+5G>A" "r.5313_5460del" "p.(Trp1772Argfs∗9)" "38i"
"0000405630" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.5461_5714del" "p.(Thr1821Aspfs∗6)" "38i"
"0000405631" "00001847" "90" "5461" "-8" "5461" "-8" "c.5461-8T>G" "r.5461_5714del" "p.(Thr1821Aspfs∗6)" "38i"
"0000405632" "00001847" "90" "5584" "0" "5584" "0" "c.5584G>C" "r.5461_5714del" "p.(Thr1821Aspfs∗6)" "39"
"0000405633" "00001847" "90" "5584" "5" "5584" "5" "c.5584+5G>A" "r.[5461_5714del,5461_5584del]" "p.[(Thr1821Aspfs∗6,Thr1821Valfs∗13)]" "39i"
"0000405634" "00001847" "90" "5584" "6" "5584" "6" "c.5584+6T>C" "r.[5461_5714del,5461_5584del]" "p.[(Thr1821Aspfs∗6,Thr1821Valfs∗13,Glu1863Leufs∗33)]" "39i"
"0000405635" "00001847" "10" "5585" "-10" "5585" "-10" "c.5585-10T>C" "r.=" "p.(=)" "39i"
"0000405636" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[(=,Glu1863Leufs∗33)]" "40i"
"0000405637" "00001847" "90" "5836" "-3" "5836" "-3" "c.5836-3C>A" "r.5835_5836ins[5836-30_5836-4;aag]" "p.(Lys1945_Ile1946Pheins10)" "41i"
"0000405638" "00001847" "90" "5898" "5" "5898" "5" "c.5898+5del" "r.[5898_5899ins[gugg;5898+6_5899-1],5898_5899ins[gugg;5898+6_5898+170]]" "p.(Cys1967Valfs∗24)" "42i"
"0000405639" "00001847" "70" "6478" "0" "6478" "0" "c.6478A>G" "r.[6478a>g,6387_6479del]" "p.[(Lys2160Glu,Ser2129_Lys2160delinsArg)]" "47"
"0000405640" "00001847" "90" "6479" "4" "6479" "4" "c.6479+4A>G" "r.6387_6479del" "p.(Ser2129_Lys2160delinsArg)" "47i"
"0000405641" "00001847" "90" "6729" "5" "6729" "19" "c.6729+5_6729+19del" "r.6480_6729del" "p.(Phe2161Cysfs∗3)" "48i"
"0000408237" "00001847" "70" "53" "0" "53" "0" "c.53G>A" "r.(?)" "p.(Arg18Gln)" "1"
"0000408311" "00001847" "70" "686" "0" "686" "0" "c.686T>C" "r.(?)" "p.(Leu229Pro)" "6"
"0000408316" "00001847" "77" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000408317" "00001847" "53" "3602" "0" "3602" "0" "c.3602T>G" "r.(?)" "p.(Leu1201Arg)" "24"
"0000408318" "00001847" "70" "5621" "0" "5621" "0" "c.5621T>C" "r.(?)" "p.(Leu1874Pro)" "40"
"0000408357" "00001847" "70" "686" "0" "686" "0" "c.686T>C" "r.(?)" "p.(Leu229Pro)" ""
"0000408358" "00001847" "30" "6529" "0" "6529" "0" "c.6529G>A" "r.(?)" "p.(Asp2177Asn)" ""
"0000408359" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000408362" "00001847" "70" "1019" "0" "1019" "0" "c.1019A>G" "r.(?)" "p.(Tyr340Cys)" ""
"0000408365" "00001847" "70" "1201" "0" "1201" "0" "c.1201A>C" "r.(?)" "p.(Thr401Pro)" ""
"0000408366" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.(Gly863Ala)" ""
"0000408367" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000408371" "00001847" "70" "1252" "0" "1252" "0" "c.1252T>C" "r.(?)" "p.(Phe418Leu)" ""
"0000408372" "00001847" "70" "6005" "1" "6005" "1" "c.6005+1del" "r.spl?" "p.?" ""
"0000408373" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000435599" "00001847" "50" "859" "-9" "859" "-9" "c.859-9T>C" "r.spl" "p.?" ""
"0000435600" "00001847" "50" "3830" "0" "3830" "0" "c.3830C>T" "r.(?)" "p.(Thr1277Met)" ""
"0000435601" "00001847" "70" "859" "-9" "859" "-9" "c.859-9T>C" "r.spl" "p.?" ""
"0000438552" "00001847" "90" "4539" "2064" "4539" "2064" "c.4539+2064C>T" "r.(=)" "p.(=)" ""
"0000438655" "00001847" "90" "2576" "0" "2579" "0" "c.2576_2579dup" "r.(?)" "p.(Phe861Glyfs*25)" "16"
"0000438689" "00001847" "90" "4519" "0" "4519" "0" "c.4519G>A" "r.(?)" "p.(Gly1507Arg)" ""
"0000438690" "00001847" "90" "4594" "0" "4594" "0" "c.4594G>A" "r.(?)" "p.(Asp1532Asn)" ""
"0000441240" "00001847" "97" "5512" "0" "5512" "0" "c.5512C>G" "r.(?)" "p.(His1838Asp)" ""
"0000441241" "00001847" "95" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" ""
"0000441245" "00001847" "90" "1253" "0" "1253" "0" "c.1253T>C" "r.(?)" "p.(Phe418Ser)" ""
"0000441246" "00001847" "99" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.(Val256=)" ""
"0000441247" "00001847" "90" "3531" "0" "3531" "0" "c.3531del" "r.(?)" "p.(Cys1177*)" ""
"0000441248" "00001847" "90" "2161" "-8" "2161" "-8" "c.2161-8G>A" "r.spl" "p.?" ""
"0000441253" "00001847" "90" "4539" "2028" "4539" "2028" "c.4539+2028C>T" "r.spl" "p.?" ""
"0000441254" "00001847" "90" "4363" "0" "4363" "0" "c.4363del" "r.(?)" "p.(Cys1455Valfs*71)" ""
"0000441255" "00001847" "53" "4685" "0" "4685" "0" "c.4685T>C" "r.(?)" "p.(Ile1562Thr)" ""
"0000454330" "00001847" "90" "67" "-1" "67" "-1" "c.67-1del" "r.spl" "p.?" "1i"
"0000454331" "00001847" "70" "455" "0" "455" "0" "c.455G>A" "r.(?)" "p.(Arg152Gln)" "5"
"0000454332" "00001847" "70" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000473843" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000473844" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000473845" "00001847" "10" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000473846" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000473847" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000473848" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000473849" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000473850" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000473851" "00001847" "10" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000473852" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000473853" "00001847" "70" "6077" "0" "6077" "0" "c.6077T>C" "r.(?)" "p.(Leu2026Pro)" "44"
"0000473854" "00001847" "10" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000473855" "00001847" "10" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000473856" "00001847" "70" "4537" "0" "4537" "0" "c.4537del" "r.(?)" "p.(Gln1513Argfs*13)" "30"
"0000473857" "00001847" "10" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000473858" "00001847" "30" "1964" "0" "1964" "0" "c.1964T>G" "r.(?)" "p.(Phe655Cys)" "14"
"0000473859" "00001847" "30" "5908" "0" "5908" "0" "c.5908C>T" "r.(?)" "p.(Leu1970Phe)" "43"
"0000473860" "00001847" "10" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000473861" "00001847" "10" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000473862" "00001847" "70" "4347" "0" "4347" "0" "c.4347G>T" "r.(?)" "p.(Trp1449Cys)" "29"
"0000473863" "00001847" "50" "4253" "43" "4253" "43" "c.4253+43G>A" "r.(?)" "p.(=)" "28i"
"0000473864" "00001847" "50" "4539" "859" "4539" "859" "c.4539+859C>T" "r.(?)" "p.(=)" "30i"
"0000473865" "00001847" "50" "4539" "2028" "4539" "2028" "c.4539+2028C>T" "r.spl?" "p.(?)" "30i"
"0000473866" "00001847" "90" "4352" "1" "4352" "1" "c.4352+1G>A" "r.spl" "p.?" "29i"
"0000473867" "00001847" "50" "4253" "43" "4253" "43" "c.4253+43G>A" "r.(?)" "p.(=)" "28i"
"0000473868" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000473869" "00001847" "70" "5706" "0" "5706" "0" "c.5706dup" "r.(?)" "p.(Ser1903Leufs*9)" "40"
"0000473870" "00001847" "90" "6658" "0" "6658" "0" "c.6658C>T" "r.(?)" "p.(Gln2220*)" "48"
"0000473871" "00001847" "50" "4253" "43" "4253" "43" "c.4253+43G>A" "r.(?)" "p.(=)" "28i"
"0000473872" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000473873" "00001847" "70" "5176" "0" "5177" "0" "c.5176_5177insG" "r.(?)" "p.(Thr1726Serfs*61)" "36"
"0000473874" "00001847" "70" "1009" "0" "1009" "0" "c.1009T>C" "r.(?)" "p.(Phe337Leu)" "8"
"0000473875" "00001847" "70" "4919" "0" "4919" "0" "c.4919G>A" "r.(?)" "p.(Arg1640Gln)" "35"
"0000473876" "00001847" "10" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000473877" "00001847" "10" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000473878" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.(Gly863Ala)" "17"
"0000473879" "00001847" "90" "3289" "0" "3289" "0" "c.3289A>T" "r.(?)" "p.(Arg1097*)" "22"
"0000473880" "00001847" "10" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000473881" "00001847" "10" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000473882" "00001847" "30" "1654" "0" "1654" "0" "c.1654G>A" "r.(?)" "p.(Val552Ile)" "12"
"0000473883" "00001847" "50" "4253" "43" "4253" "43" "c.4253+43G>A" "r.(?)" "p.(=)" "28i"
"0000473884" "00001847" "50" "4539" "859" "4539" "859" "c.4539+859C>T" "r.(?)" "p.(=)" "30i"
"0000473885" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.?" "38i"
"0000473886" "00001847" "10" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000473887" "00001847" "50" "3191" "-19" "3191" "-19" "c.3191-19G>A" "r.(?)" "p.(=)" "21i"
"0000473888" "00001847" "70" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" "44"
"0000473889" "00001847" "90" "2005" "0" "2006" "0" "c.2005_2006del" "r.(?)" "p.(Met669Aspfs*96)" "14"
"0000473890" "00001847" "50" "160" "0" "160" "0" "c.160T>G" "r.(?)" "p.(Cys54Gly)" "2"
"0000473891" "00001847" "10" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000473892" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000473893" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.?" "38i"
"0000473894" "00001847" "90" "4234" "0" "4234" "0" "c.4234C>T" "r.(?)" "p.(Gln1412*)" "28"
"0000473895" "00001847" "10" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000473896" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.?" "38i"
"0000473897" "00001847" "10" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000473898" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000473899" "00001847" "10" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000473900" "00001847" "90" "160" "2" "160" "2" "c.160+2T>C" "r.spl" "p.?" "2i"
"0000473901" "00001847" "70" "5189" "0" "5189" "0" "c.5189G>A" "r.(?)" "p.(Trp1730*)" "36"
"0000473902" "00001847" "10" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000473903" "00001847" "70" "179" "0" "179" "0" "c.179C>T" "r.(?)" "p.(Ala60Val)" "3"
"0000473904" "00001847" "50" "5693" "0" "5693" "0" "c.5693G>A" "r.(?)" "p.(Arg1898His)" "40"
"0000473905" "00001847" "90" "885" "0" "885" "0" "c.885del" "r.(?)" "p.(Leu296Cysfs*4)" "8"
"0000473906" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000473907" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000473908" "00001847" "10" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000473909" "00001847" "30" "2690" "0" "2690" "0" "c.2690C>T" "r.(?)" "p.(Thr897Ile)" "18"
"0000473910" "00001847" "30" "4771" "0" "4771" "0" "c.4771G>A" "r.(?)" "p.(Gly1591Arg)" "33"
"0000473911" "00001847" "30" "4771" "0" "4771" "0" "c.4771G>A" "r.(?)" "p.(Gly1591Arg)" "33"
"0000473912" "00001847" "50" "3377" "0" "3377" "0" "c.3377T>C" "r.(?)" "p.(Leu1126Pro)" "23"
"0000473913" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000473914" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.(Leu257Valfs*17)" "6"
"0000473915" "00001847" "10" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000473916" "00001847" "10" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000473917" "00001847" "70" "6112" "0" "6112" "0" "c.6112C>T" "r.(?)" "p.(Arg2038Trp)" "44"
"0000473918" "00001847" "70" "1523" "0" "1523" "0" "c.1523G>C" "r.(?)" "p.(Arg508Pro)" "11"
"0000473919" "00001847" "90" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973*)" "43"
"0000473920" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000473921" "00001847" "90" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973*)" "43"
"0000473922" "00001847" "70" "2300" "0" "2300" "0" "c.2300T>A" "r.(?)" "p.(Val767Asp)" "15"
"0000473923" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000473924" "00001847" "70" "161" "0" "161" "0" "c.161G>A" "r.spl?" "p.(Cys54Tyr)" "3"
"0000473925" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000473926" "00001847" "50" "5973" "0" "5973" "0" "c.5973G>C" "r.(?)" "p.(=)" "43"
"0000473927" "00001847" "90" "4234" "0" "4234" "0" "c.4234C>T" "r.(?)" "p.(Gln1412*)" "28"
"0000473928" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000473929" "00001847" "70" "6100" "0" "6100" "0" "c.6100del" "r.(?)" "p.(Tyr2034Thrfs*27)" "44"
"0000473930" "00001847" "30" "455" "0" "455" "0" "c.455G>A" "r.(?)" "p.(Arg152Gln)" "5"
"0000473931" "00001847" "30" "1928" "0" "1928" "0" "c.1928T>G" "r.(?)" "p.(Val643Gly)" "13"
"0000473932" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000473933" "00001847" "70" "5936" "0" "5936" "0" "c.5936C>T" "r.(?)" "p.(Thr1979Ile)" "43"
"0000473934" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000473935" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000473936" "00001847" "30" "769" "-784" "769" "-784" "c.769-784C>T" "r.(?)" "p.(=)" "6i"
"0000473937" "00001847" "10" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000473938" "00001847" "10" "6529" "0" "6529" "0" "c.6529G>A" "r.(?)" "p.(Asp2177Asn)" "48"
"0000473939" "00001847" "70" "6229" "0" "6229" "0" "c.6229C>T" "r.(?)" "p.(Arg2077Trp)" "45"
"0000473940" "00001847" "10" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000473941" "00001847" "70" "956" "0" "956" "0" "c.956T>G" "r.(?)" "p.(Leu319Arg)" "8"
"0000473942" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000473943" "00001847" "70" "6283" "-3" "6283" "-2" "c.6283-3_6283-2delinsAG" "r.spl" "p.?" "45i"
"0000473944" "00001847" "70" "1719" "0" "1719" "0" "c.1719G>A" "r.(?)" "p.(Met573Ile)" "12"
"0000473945" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.?" "38i"
"0000473946" "00001847" "10" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000473947" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000473948" "00001847" "10" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000473949" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000473950" "00001847" "70" "5453" "0" "5453" "0" "c.5453del" "r.(?)" "p.(Asn1818Ilefs*12)" "38"
"0000473951" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.?" "38i"
"0000473952" "00001847" "50" "4253" "43" "4253" "43" "c.4253+43G>A" "r.(?)" "p.(=)" "28i"
"0000473953" "00001847" "70" "1822" "0" "1822" "0" "c.1822T>A" "r.(?)" "p.(Phe608Ile)" "13"
"0000473954" "00001847" "10" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000473955" "00001847" "10" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000473956" "00001847" "70" "4253" "4" "4253" "4" "c.4253+4C>T" "r.spl" "p.?" "28i"
"0000473957" "00001847" "70" "1357" "-2" "1357" "-2" "c.1357-2A>G" "r.spl" "p.?" "10i"
"0000473958" "00001847" "10" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000473959" "00001847" "70" "4463" "0" "4463" "0" "c.4463G>A" "r.(?)" "p.(Cys1488Tyr)" "30"
"0000473960" "00001847" "70" "6148" "0" "6148" "0" "c.6148G>C" "r.spl?" "p.(Val2050Leu)" "45"
"0000473961" "00001847" "10" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000473962" "00001847" "90" "2160" "1" "2160" "1" "c.2160+1G>T" "r.spl" "p.?" "14i"
"0000473963" "00001847" "10" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000473964" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.(Leu257Valfs*17)" "6"
"0000473965" "00001847" "10" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000473966" "00001847" "70" "1793" "0" "1793" "0" "c.1793T>G" "r.(?)" "p.(Val598Gly)" "13"
"0000473967" "00001847" "70" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" "35"
"0000473968" "00001847" "50" "5693" "0" "5693" "0" "c.5693G>A" "r.(?)" "p.(Arg1898His)" "40"
"0000473969" "00001847" "50" "4253" "43" "4253" "43" "c.4253+43G>A" "r.(?)" "p.(=)" "28i"
"0000473970" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.(Gly863Ala)" "17"
"0000473971" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000473972" "00001847" "70" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000473973" "00001847" "70" "5329" "0" "5329" "0" "c.5329A>T" "r.(?)" "p.(Met1777Leu)" "38"
"0000473974" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000473975" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000473976" "00001847" "10" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000473977" "00001847" "70" "1454" "0" "1454" "0" "c.1454del" "r.(?)" "p.(Gly485Alafs*83)" "11"
"0000473978" "00001847" "30" "769" "-784" "769" "-784" "c.769-784C>T" "r.(?)" "p.(=)" "6i"
"0000473979" "00001847" "10" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000473980" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000473981" "00001847" "10" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000473982" "00001847" "70" "3272" "0" "3272" "0" "c.3272G>A" "r.(?)" "p.(Gly1091Glu)" "22"
"0000473983" "00001847" "10" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000473984" "00001847" "90" "122" "0" "122" "0" "c.122G>A" "r.(?)" "p.(Trp41*)" "2"
"0000473985" "00001847" "10" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000473986" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.(Gly863Ala)" "17"
"0000473987" "00001847" "10" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000473988" "00001847" "50" "5196" "1056" "5196" "1056" "c.5196+1056A>G" "r.spl" "p.?" "36i"
"0000473989" "00001847" "10" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000473990" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000473991" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000473992" "00001847" "10" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000473993" "00001847" "70" "67" "-2" "67" "-2" "c.67-2A>G" "r.spl" "p.?" "1i"
"0000473994" "00001847" "30" "769" "-784" "769" "-784" "c.769-784C>T" "r.(?)" "p.(=)" "6i"
"0000473995" "00001847" "50" "3377" "0" "3377" "0" "c.3377T>C" "r.(?)" "p.(Leu1126Pro)" "23"
"0000473996" "00001847" "10" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000473997" "00001847" "50" "5693" "0" "5693" "0" "c.5693G>A" "r.(?)" "p.(Arg1898His)" "40"
"0000473998" "00001847" "10" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000473999" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.(Gly863Ala)" "17"
"0000474000" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000474001" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.(Leu257Valfs*17)" "6"
"0000474002" "00001847" "50" "4253" "43" "4253" "43" "c.4253+43G>A" "r.(?)" "p.(=)" "28i"
"0000474003" "00001847" "90" "1293" "0" "1293" "0" "c.1293G>A" "r.(?)" "p.(Trp431*)" "10"
"0000474004" "00001847" "50" "4253" "43" "4253" "43" "c.4253+43G>A" "r.(?)" "p.(=)" "28i"
"0000474005" "00001847" "30" "1654" "0" "1654" "0" "c.1654G>A" "r.(?)" "p.(Val552Ile)" "12"
"0000474006" "00001847" "90" "2160" "1" "2160" "1" "c.2160+1G>T" "r.spl" "p.?" "14i"
"0000474007" "00001847" "10" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000474008" "00001847" "70" "1957" "0" "1957" "0" "c.1957C>T" "r.(?)" "p.(Arg653Cys)" "14"
"0000474009" "00001847" "50" "4253" "43" "4253" "43" "c.4253+43G>A" "r.(?)" "p.(=)" "28i"
"0000474010" "00001847" "10" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000474011" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000474012" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000474013" "00001847" "50" "4253" "43" "4253" "43" "c.4253+43G>A" "r.(?)" "p.(=)" "28i"
"0000474014" "00001847" "10" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000474015" "00001847" "30" "4771" "0" "4771" "0" "c.4771G>A" "r.(?)" "p.(Gly1591Arg)" "33"
"0000474016" "00001847" "50" "4519" "0" "4519" "0" "c.4519G>A" "r.(?)" "p.(Gly1507Arg)" "30"
"0000474017" "00001847" "90" "6088" "0" "6088" "0" "c.6088C>T" "r.(?)" "p.(Arg2030*)" "44"
"0000474018" "00001847" "10" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000474019" "00001847" "70" "5065" "0" "5065" "0" "c.5065T>C" "r.(?)" "p.(Ser1689Pro)" "36"
"0000474020" "00001847" "10" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000474021" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000474022" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000474023" "00001847" "10" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000474024" "00001847" "90" "1086" "0" "1086" "0" "c.1086T>A" "r.(?)" "p.(Tyr362*)" "8"
"0000474025" "00001847" "10" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000474026" "00001847" "10" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000474027" "00001847" "10" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000474028" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000474029" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000474030" "00001847" "10" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000474031" "00001847" "10" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000474032" "00001847" "50" "5196" "1159" "5196" "1159" "c.5196+1159G>A" "r.spl?" "p.(?)" "36i"
"0000474033" "00001847" "10" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000474034" "00001847" "10" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000474035" "00001847" "30" "4771" "0" "4771" "0" "c.4771G>A" "r.(?)" "p.(Gly1591Arg)" "33"
"0000474036" "00001847" "90" "1937" "1" "1937" "1" "c.1937+1G>A" "r.spl" "p.?" "13i"
"0000474037" "00001847" "10" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000474038" "00001847" "70" "5549" "0" "5549" "0" "c.5549T>C" "r.(?)" "p.(Leu1850Pro)" "39"
"0000474039" "00001847" "30" "5908" "0" "5908" "0" "c.5908C>T" "r.(?)" "p.(Leu1970Phe)" "43"
"0000474040" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000474041" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000474042" "00001847" "10" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000474043" "00001847" "70" "4253" "5" "4253" "5" "c.4253+5G>A" "r.spl" "p.?" "28i"
"0000474044" "00001847" "70" "3149" "0" "3149" "0" "c.3149G>A" "r.(?)" "p.(Gly1050Asp)" "21"
"0000474045" "00001847" "50" "5693" "0" "5693" "0" "c.5693G>A" "r.(?)" "p.(Arg1898His)" "40"
"0000474046" "00001847" "90" "1937" "1" "1937" "1" "c.1937+1G>A" "r.spl" "p.?" "13i"
"0000474047" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000474048" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000474049" "00001847" "50" "4253" "43" "4253" "43" "c.4253+43G>A" "r.(?)" "p.(=)" "28i"
"0000474050" "00001847" "50" "4256" "0" "4256" "0" "c.4256T>C" "r.(?)" "p.(Met1419Thr)" "29"
"0000474051" "00001847" "70" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" "44"
"0000474052" "00001847" "50" "4539" "2064" "4539" "2064" "c.4539+2064C>T" "r.(?)" "p.(=)" "30i"
"0000474053" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000474054" "00001847" "70" "2546" "0" "2546" "0" "c.2546T>C" "r.(?)" "p.(Val849Ala)" "16"
"0000474055" "00001847" "50" "5196" "1136" "5196" "1136" "c.5196+1136C>A" "r.spl?" "p.(?)" "36i"
"0000474056" "00001847" "70" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000474057" "00001847" "50" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.(=)" "p.(=)" "36i"
"0000474058" "00001847" "10" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000474059" "00001847" "30" "4909" "0" "4909" "0" "c.4909G>A" "r.(?)" "p.(Ala1637Thr)" "35"
"0000474060" "00001847" "70" "4537" "0" "4537" "0" "c.4537del" "r.(?)" "p.(Gln1513Argfs*13)" "30"
"0000474061" "00001847" "10" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000474062" "00001847" "90" "3289" "0" "3289" "0" "c.3289A>T" "r.(?)" "p.(Arg1097*)" "22"
"0000474063" "00001847" "50" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.(=)" "p.(=)" "36i"
"0000474064" "00001847" "10" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000474065" "00001847" "30" "769" "-784" "769" "-784" "c.769-784C>T" "r.(?)" "p.(=)" "6i"
"0000474066" "00001847" "90" "5313" "-2" "5313" "-2" "c.5313-2del" "r.spl" "p.?" "37i"
"0000474067" "00001847" "10" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000474068" "00001847" "50" "2588" "-12" "2588" "-12" "c.2588-12C>G" "r.(?)" "p.(=)" "16i"
"0000474069" "00001847" "90" "3085" "0" "3085" "0" "c.3085C>T" "r.(?)" "p.(Gln1029*)" "21"
"0000474070" "00001847" "50" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.(=)" "p.(=)" "36i"
"0000474071" "00001847" "70" "4070" "0" "4070" "0" "c.4070C>T" "r.(?)" "p.(Ala1357Val)" "27"
"0000474072" "00001847" "70" "1749" "0" "1749" "0" "c.1749G>C" "r.(?)" "p.(Lys583Asn)" "12"
"0000474073" "00001847" "50" "4539" "2064" "4539" "2064" "c.4539+2064C>T" "r.(?)" "p.(=)" "30i"
"0000474074" "00001847" "70" "4633" "0" "4633" "0" "c.4633A>G" "r.(?)" "p.(Ser1545Gly)" "31"
"0000474075" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.(Gly863Ala)" "17"
"0000474076" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.?" "38i"
"0000474077" "00001847" "10" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000474078" "00001847" "70" "5509" "0" "5509" "0" "c.5509C>T" "r.(?)" "p.(Pro1837Ser)" "39"
"0000474079" "00001847" "50" "4253" "43" "4253" "43" "c.4253+43G>A" "r.(?)" "p.(=)" "28i"
"0000474080" "00001847" "70" "6449" "0" "6449" "0" "c.6449G>A" "r.(?)" "p.(Cys2150Tyr)" "47"
"0000474081" "00001847" "90" "950" "0" "950" "0" "c.950del" "r.(?)" "p.(Gly317Alafs*57)" "8"
"0000474082" "00001847" "10" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000474083" "00001847" "70" "6148" "0" "6148" "0" "c.6148G>C" "r.(?)" "p.(Val2050Leu)" "45"
"0000474084" "00001847" "10" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000474085" "00001847" "90" "5018" "2" "5018" "2" "c.5018+2T>C" "r.spl" "p.?" "35i"
"0000474086" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.?" "38i"
"0000474087" "00001847" "10" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000474088" "00001847" "90" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071Cysfs*14)" "22"
"0000474089" "00001847" "10" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000474090" "00001847" "90" "735" "0" "735" "0" "c.735T>G" "r.(?)" "p.(Tyr245*)" "6"
"0000474091" "00001847" "50" "4253" "43" "4253" "43" "c.4253+43G>A" "r.(?)" "p.(=)" "28i"
"0000474092" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl?" "p.?" "40i"
"0000474093" "00001847" "70" "2785" "0" "2785" "0" "c.2785dup" "r.(?)" "p.(Val929Glyfs*11)" "19"
"0000474094" "00001847" "70" "6220" "0" "6220" "0" "c.6220G>A" "r.(?)" "p.(Gly2074Ser)" "45"
"0000474095" "00001847" "50" "4253" "43" "4253" "43" "c.4253+43G>A" "r.(?)" "p.(=)" "28i"
"0000474096" "00001847" "70" "574" "0" "574" "0" "c.574G>A" "r.(?)" "p.(Ala192Thr)" "6"
"0000474097" "00001847" "70" "3344" "0" "3344" "0" "c.3344T>C" "r.(?)" "p.(Met1115Thr)" "23"
"0000474098" "00001847" "10" "3899" "0" "3899" "0" "c.3899G>A" "r.(?)" "p.(Arg1300Gln)" "27"
"0000474099" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.(Gly863Ala)" "17"
"0000474100" "00001847" "10" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000474101" "00001847" "70" "656" "0" "656" "0" "c.656G>C" "r.(?)" "p.(Arg219Thr)" "6"
"0000474102" "00001847" "70" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000474103" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.?" "38i"
"0000474104" "00001847" "10" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000474105" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000474106" "00001847" "50" "4539" "2064" "4539" "2064" "c.4539+2064C>T" "r.(?)" "p.(=)" "30i"
"0000474107" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.(Gly863Ala)" "17"
"0000474108" "00001847" "10" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000474109" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.?" "38i"
"0000474110" "00001847" "10" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000474111" "00001847" "70" "5381" "0" "5381" "0" "c.5381C>A" "r.(?)" "p.(Ala1794Asp)" "38"
"0000474112" "00001847" "70" "6107" "0" "6107" "0" "c.6107A>G" "r.(?)" "p.(Tyr2036Cys)" "44"
"0000474113" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.(Gly863Ala)" "17"
"0000474114" "00001847" "10" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000474115" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000474116" "00001847" "70" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000474117" "00001847" "70" "2401" "0" "2401" "0" "c.2401G>A" "r.(?)" "p.(Ala801Thr)" "16"
"0000474118" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000474119" "00001847" "10" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000474120" "00001847" "70" "4222" "0" "4222" "0" "c.4222T>C" "r.(?)" "p.(Trp1408Arg)" "28"
"0000474121" "00001847" "70" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" "35"
"0000474122" "00001847" "50" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.(=)" "p.(=)" "36i"
"0000474123" "00001847" "10" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000474124" "00001847" "70" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" "44"
"0000474125" "00001847" "70" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000474126" "00001847" "70" "4849" "0" "4849" "0" "c.4849G>A" "r.(?)" "p.(Val1617Met)" "35"
"0000474127" "00001847" "70" "4539" "0" "4539" "0" "c.4539G>A" "r.spl?" "p.(Gln1513=)" "30"
"0000474128" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.(Gly863Ala)" "17"
"0000474129" "00001847" "30" "4771" "0" "4771" "0" "c.4771G>A" "r.(?)" "p.(Gly1591Arg)" "33"
"0000474130" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.?" "38i"
"0000474131" "00001847" "10" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000474132" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl?" "p.?" "40i"
"0000474133" "00001847" "50" "161" "-23" "161" "-23" "c.161-23T>A" "r.spl?" "p.(?)" "2i"
"0000474134" "00001847" "10" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000474135" "00001847" "10" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000474136" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl?" "p.?" "40i"
"0000474137" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.?" "38i"
"0000474138" "00001847" "10" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000474139" "00001847" "70" "6148" "0" "6148" "0" "c.6148G>C" "r.spl?" "p.(Val2050Leu)" "45"
"0000474140" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000474141" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.?" "38i"
"0000474142" "00001847" "10" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000474143" "00001847" "10" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000474144" "00001847" "50" "466" "0" "466" "0" "c.466A>G" "r.(?)" "p.(Ile156Val)" "5"
"0000474145" "00001847" "10" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000474146" "00001847" "70" "710" "0" "710" "0" "c.710T>C" "r.(?)" "p.(Leu237Pro)" "6"
"0000474147" "00001847" "50" "4253" "43" "4253" "43" "c.4253+43G>A" "r.(?)" "p.(=)" "28i"
"0000474148" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.?" "38i"
"0000474149" "00001847" "10" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000474150" "00001847" "10" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000474151" "00001847" "10" "3602" "0" "3602" "0" "c.3602T>G" "r.(?)" "p.(Leu1201Arg)" "24"
"0000474152" "00001847" "70" "6254" "0" "6254" "0" "c.6254T>C" "r.(?)" "p.(Leu2085Pro)" "45"
"0000474153" "00001847" "10" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000474154" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000474155" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000474156" "00001847" "10" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000474157" "00001847" "70" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" "44"
"0000474158" "00001847" "70" "4927" "0" "4927" "0" "c.4927del" "r.(?)" "p.(Leu1643Cysfs*19)" "35"
"0000474159" "00001847" "70" "2570" "0" "2570" "0" "c.2570T>C" "r.(?)" "p.(Leu857Pro)" "16"
"0000474160" "00001847" "50" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.(=)" "p.(=)" "36i"
"0000474161" "00001847" "10" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000474162" "00001847" "10" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000474163" "00001847" "90" "5018" "2" "5018" "2" "c.5018+2T>C" "r.spl" "p.?" "35i"
"0000474164" "00001847" "50" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.(=)" "p.(=)" "36i"
"0000474165" "00001847" "70" "6316" "0" "6316" "0" "c.6316C>T" "r.(?)" "p.(Arg2106Cys)" "46"
"0000474166" "00001847" "90" "3970" "0" "3970" "0" "c.3970del" "r.(?)" "p.(Ala1324Argfs*65)" "27"
"0000474167" "00001847" "70" "6316" "0" "6316" "0" "c.6316C>T" "r.(?)" "p.(Arg2106Cys)" "46"
"0000474168" "00001847" "90" "5313" "-2" "5313" "-2" "c.5313-2del" "r.spl" "p.?" "37i"
"0000474169" "00001847" "50" "4253" "43" "4253" "43" "c.4253+43G>A" "r.(?)" "p.(=)" "28i"
"0000474170" "00001847" "70" "1015" "0" "1015" "0" "c.1015T>G" "r.(?)" "p.(Trp339Gly)" "8"
"0000474171" "00001847" "10" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000474172" "00001847" "50" "4539" "2064" "4539" "2064" "c.4539+2064C>T" "r.(?)" "p.(=)" "30i"
"0000474173" "00001847" "10" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000474174" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.(Gly863Ala)" "17"
"0000474175" "00001847" "70" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000474176" "00001847" "50" "4253" "43" "4253" "43" "c.4253+43G>A" "r.(?)" "p.(=)" "28i"
"0000474177" "00001847" "10" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000474178" "00001847" "70" "1015" "0" "1015" "0" "c.1015T>G" "r.(?)" "p.(Trp339Gly)" "8"
"0000474179" "00001847" "50" "4539" "2001" "4539" "2001" "c.4539+2001G>A" "r.spl?" "p.(?)" "30i"
"0000474180" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.(Gly863Ala)" "17"
"0000474181" "00001847" "10" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000474182" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000474183" "00001847" "70" "1015" "0" "1015" "0" "c.1015T>G" "r.(?)" "p.(Trp339Gly)" "8"
"0000474184" "00001847" "10" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000474185" "00001847" "30" "769" "-605" "769" "-605" "c.769-605T>C" "r.(?)" "p.(=)" "6i"
"0000474186" "00001847" "70" "4222" "0" "4222" "0" "c.4222T>C" "r.(?)" "p.(Trp1408Arg)" "28"
"0000474187" "00001847" "70" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" "35"
"0000474188" "00001847" "30" "455" "0" "455" "0" "c.455G>A" "r.(?)" "p.(Arg152Gln)" "5"
"0000474189" "00001847" "10" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000474190" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.?" "38i"
"0000474191" "00001847" "10" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000474192" "00001847" "50" "4253" "43" "4253" "43" "c.4253+43G>A" "r.(?)" "p.(=)" "28i"
"0000474193" "00001847" "10" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000474194" "00001847" "70" "1015" "0" "1015" "0" "c.1015T>G" "r.(?)" "p.(Trp339Gly)" "8"
"0000474195" "00001847" "10" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000474196" "00001847" "70" "3323" "0" "3323" "0" "c.3323G>A" "r.(?)" "p.(Arg1108His)" "22"
"0000474197" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.?" "38i"
"0000474198" "00001847" "10" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000474199" "00001847" "70" "1253" "0" "1253" "0" "c.1253T>C" "r.(?)" "p.(Phe418Ser)" "10"
"0000474200" "00001847" "70" "1244" "0" "1244" "0" "c.1244A>G" "r.(?)" "p.(Asn415Ser)" "10"
"0000474201" "00001847" "70" "6098" "0" "6098" "0" "c.6098T>G" "r.(?)" "p.(Leu2033Arg)" "44"
"0000474202" "00001847" "50" "4253" "43" "4253" "43" "c.4253+43G>A" "r.(?)" "p.(=)" "28i"
"0000474203" "00001847" "90" "3296" "0" "3296" "0" "c.3296C>G" "r.(?)" "p.(Ser1099*)" "22"
"0000474204" "00001847" "10" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000474205" "00001847" "70" "2531" "0" "2531" "0" "c.2531T>G" "r.(?)" "p.(Leu844Arg)" "16"
"0000474206" "00001847" "50" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.(=)" "p.(=)" "36i"
"0000474207" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.(Gly863Ala)" "17"
"0000474208" "00001847" "10" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000474209" "00001847" "10" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000474210" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000474211" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.?" "38i"
"0000474212" "00001847" "10" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000474213" "00001847" "10" "6529" "0" "6529" "0" "c.6529G>A" "r.(?)" "p.(Asp2177Asn)" "48"
"0000474214" "00001847" "50" "4539" "2001" "4539" "2001" "c.4539+2001G>A" "r.spl?" "p.(?)" "30i"
"0000474215" "00001847" "10" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000474216" "00001847" "70" "1760" "1" "1760" "1" "c.1760+1G>A" "r.spl" "p.?" "12i"
"0000474217" "00001847" "10" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000474218" "00001847" "90" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071Cysfs*14)" "22"
"0000474219" "00001847" "70" "1783" "0" "1783" "0" "c.1783G>A" "r.(?)" "p.(Ala595Thr)" "13"
"0000474220" "00001847" "70" "1022" "0" "1022" "0" "c.1022A>G" "r.(?)" "p.(Glu341Gly)" "8"
"0000474221" "00001847" "50" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.(=)" "p.(=)" "36i"
"0000474222" "00001847" "70" "1015" "0" "1015" "0" "c.1015T>G" "r.(?)" "p.(Trp339Gly)" "8"
"0000474223" "00001847" "10" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000474224" "00001847" "90" "735" "0" "735" "0" "c.735T>G" "r.(?)" "p.(Tyr245*)" "6"
"0000474225" "00001847" "50" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.(=)" "p.(=)" "36i"
"0000474226" "00001847" "70" "1249" "0" "1249" "0" "c.1249A>G" "r.(?)" "p.(Thr417Ala)" "10"
"0000474227" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.?" "38i"
"0000474228" "00001847" "10" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000474229" "00001847" "70" "686" "0" "686" "0" "c.686T>C" "r.(?)" "p.(Leu229Pro)" "6"
"0000474230" "00001847" "10" "6529" "0" "6529" "0" "c.6529G>A" "r.(?)" "p.(Asp2177Asn)" "48"
"0000474231" "00001847" "50" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.(=)" "p.(=)" "36i"
"0000474232" "00001847" "70" "4128" "0" "4128" "0" "c.4128G>C" "r.(?)" "p.(Gln1376His)" "27"
"0000474233" "00001847" "50" "4253" "43" "4253" "43" "c.4253+43G>A" "r.(?)" "p.(=)" "28i"
"0000474234" "00001847" "70" "6228" "0" "6228" "0" "c.6228del" "r.(?)" "p.(Lys2076Asnfs*39)" "45"
"0000474235" "00001847" "50" "4253" "43" "4253" "43" "c.4253+43G>A" "r.(?)" "p.(=)" "28i"
"0000474236" "00001847" "10" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000474237" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000474238" "00001847" "50" "5196" "1159" "5196" "1159" "c.5196+1159G>A" "r.spl?" "p.(?)" "36i"
"0000474239" "00001847" "70" "6107" "0" "6107" "0" "c.6107A>G" "r.(?)" "p.(Tyr2036Cys)" "44"
"0000474240" "00001847" "70" "1958" "0" "1958" "0" "c.1958G>A" "r.(?)" "p.(Arg653His)" "14"
"0000474241" "00001847" "10" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000474242" "00001847" "30" "4297" "0" "4297" "0" "c.4297G>A" "r.(?)" "p.(Val1433Ile)" "29"
"0000474243" "00001847" "30" "455" "0" "455" "0" "c.455G>A" "r.(?)" "p.(Arg152Gln)" "5"
"0000474244" "00001847" "70" "1609" "0" "1609" "0" "c.1609C>T" "r.(?)" "p.(Arg537Cys)" "12"
"0000474245" "00001847" "50" "4539" "2001" "4539" "2001" "c.4539+2001G>A" "r.spl?" "p.(?)" "30i"
"0000474246" "00001847" "90" "2564" "0" "2564" "0" "c.2564G>A" "r.(?)" "p.(Trp855*)" "16"
"0000474247" "00001847" "50" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.(=)" "p.(=)" "36i"
"0000474248" "00001847" "70" "4253" "5" "4253" "5" "c.4253+5G>T" "r.spl" "p.?" "28i"
"0000474249" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.?" "38i"
"0000474250" "00001847" "10" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000474251" "00001847" "50" "4539" "2064" "4539" "2064" "c.4539+2064C>T" "r.(?)" "p.(=)" "30i"
"0000474252" "00001847" "50" "4253" "43" "4253" "43" "c.4253+43G>A" "r.(?)" "p.(=)" "28i"
"0000474253" "00001847" "30" "455" "0" "455" "0" "c.455G>A" "r.(?)" "p.(Arg152Gln)" "5"
"0000474254" "00001847" "10" "6529" "0" "6529" "0" "c.6529G>A" "r.(?)" "p.(Asp2177Asn)" "48"
"0000474255" "00001847" "90" "4234" "0" "4234" "0" "c.4234C>T" "r.(?)" "p.(Gln1412*)" "28"
"0000474256" "00001847" "10" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000474257" "00001847" "10" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000474258" "00001847" "70" "3329" "-1" "3329" "-1" "c.3329-1G>A" "r.spl" "p.?" "22i"
"0000474259" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.(Leu257Valfs*17)" "6"
"0000474260" "00001847" "10" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000474261" "00001847" "90" "5196" "1" "5196" "1" "c.5196+1G>A" "r.spl" "p.?" "36i"
"0000474262" "00001847" "50" "4253" "43" "4253" "43" "c.4253+43G>A" "r.(?)" "p.(=)" "28i"
"0000474263" "00001847" "70" "658" "0" "658" "0" "c.658C>T" "r.(?)" "p.(Arg220Cys)" "6"
"0000474264" "00001847" "10" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000474265" "00001847" "30" "769" "-605" "769" "-605" "c.769-605T>C" "r.(?)" "p.(=)" "6i"
"0000474266" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000474267" "00001847" "70" "2594" "0" "2595" "0" "c.2594_2595del" "r.(?)" "p.(Tyr865Trpfs*19)" "17"
"0000474268" "00001847" "50" "4539" "2064" "4539" "2064" "c.4539+2064C>T" "r.(?)" "p.(=)" "30i"
"0000474269" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000474270" "00001847" "10" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000474271" "00001847" "90" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071Cysfs*14)" "22"
"0000474272" "00001847" "70" "560" "0" "560" "0" "c.560G>A" "r.(?)" "p.(Arg187His)" "5"
"0000474273" "00001847" "70" "2494" "0" "2494" "0" "c.2494G>T" "r.(?)" "p.(Asp832Tyr)" "16"
"0000474274" "00001847" "90" "3970" "0" "3970" "0" "c.3970del" "r.(?)" "p.(Ala1324Argfs*65)" "27"
"0000474275" "00001847" "30" "769" "-605" "769" "-605" "c.769-605T>C" "r.(?)" "p.(=)" "6i"
"0000474276" "00001847" "70" "1015" "0" "1015" "0" "c.1015T>G" "r.(?)" "p.(Trp339Gly)" "8"
"0000474277" "00001847" "10" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000474278" "00001847" "50" "4253" "43" "4253" "43" "c.4253+43G>A" "r.(?)" "p.(=)" "28i"
"0000474279" "00001847" "90" "6238" "0" "6239" "0" "c.6238_6239del" "r.(?)" "p.(Ser2080Hisfs*16)" "45"
"0000474280" "00001847" "50" "4253" "43" "4253" "43" "c.4253+43G>A" "r.(?)" "p.(=)" "28i"
"0000474281" "00001847" "70" "5509" "0" "5509" "0" "c.5509C>T" "r.(?)" "p.(Pro1837Ser)" "39"
"0000474282" "00001847" "10" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000474283" "00001847" "70" "4706" "0" "4706" "0" "c.4706del" "r.(?)" "p.(Val1569Alafs*12)" "33"
"0000474284" "00001847" "10" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000474285" "00001847" "10" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000474286" "00001847" "70" "442" "1" "442" "1" "c.442+1G>A" "r.spl" "p.?" "4i"
"0000474287" "00001847" "30" "4297" "0" "4297" "0" "c.4297G>A" "r.(?)" "p.(Val1433Ile)" "29"
"0000474288" "00001847" "50" "4539" "2065" "4539" "2065" "c.4539+2065C>G" "r.(?)" "p.(=)" "30i"
"0000474289" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.?" "38i"
"0000474290" "00001847" "10" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000474291" "00001847" "50" "4253" "43" "4253" "43" "c.4253+43G>A" "r.(?)" "p.(=)" "28i"
"0000474292" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.(Gly863Ala)" "17"
"0000474293" "00001847" "10" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000474294" "00001847" "50" "4539" "1106" "4539" "1106" "c.4539+1106C>T" "r.spl" "p.[(Arg1514Valfs*31,Arg1514Glyfs*3)]" "30i"
"0000474295" "00001847" "90" "2571" "0" "2571" "0" "c.2571del" "r.(?)" "p.(Asp858Ilefs*43)" "16"
"0000474296" "00001847" "10" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000474297" "00001847" "50" "4253" "43" "4253" "43" "c.4253+43G>A" "r.(?)" "p.(=)" "28i"
"0000474298" "00001847" "70" "6148" "0" "6148" "0" "c.6148G>C" "r.spl?" "p.(Val2050Leu)" "45"
"0000474299" "00001847" "70" "4539" "0" "4539" "0" "c.4539G>A" "r.spl?" "p.(Gln1513=)" "30"
"0000474300" "00001847" "70" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000474301" "00001847" "70" "4222" "0" "4222" "0" "c.4222T>C" "r.(?)" "p.(Trp1408Arg)" "28"
"0000474302" "00001847" "10" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000474303" "00001847" "10" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000474304" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000474305" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000474306" "00001847" "50" "4253" "43" "4253" "43" "c.4253+43G>A" "r.(?)" "p.(=)" "28i"
"0000474307" "00001847" "70" "3667" "0" "3667" "0" "c.3667dup" "r.(?)" "p.(Glu1223Glyfs*14)" "25"
"0000474308" "00001847" "10" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000474309" "00001847" "10" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000474310" "00001847" "70" "3499" "0" "3499" "0" "c.3499del" "r.(?)" "p.(Gln1167Argfs*29)" "23"
"0000474311" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000474312" "00001847" "70" "6718" "0" "6718" "0" "c.6718A>G" "r.(?)" "p.(Thr2240Ala)" "48"
"0000474313" "00001847" "10" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000474314" "00001847" "70" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" "44"
"0000474315" "00001847" "30" "1928" "0" "1928" "0" "c.1928T>G" "r.(?)" "p.(Val643Gly)" "13"
"0000474316" "00001847" "10" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000474317" "00001847" "70" "5065" "0" "5065" "0" "c.5065T>C" "r.(?)" "p.(Ser1689Pro)" "36"
"0000474318" "00001847" "10" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000474319" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000474320" "00001847" "70" "5149" "0" "5149" "0" "c.5149G>T" "r.(?)" "p.(Gly1717*)" "36"
"0000474321" "00001847" "10" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000474322" "00001847" "70" "3608" "0" "3608" "0" "c.3608G>A" "r.(?)" "p.(Gly1203Glu)" "25"
"0000474323" "00001847" "70" "4773" "3" "4773" "3" "c.4773+3A>G" "r.spl?" "p.?" "33i"
"0000474324" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.?" "38i"
"0000474325" "00001847" "10" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000474326" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl?" "p.?" "40i"
"0000474327" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.?" "38i"
"0000474328" "00001847" "10" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000474329" "00001847" "70" "6148" "0" "6148" "0" "c.6148G>C" "r.spl?" "p.(Val2050Leu)" "45"
"0000474330" "00001847" "70" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000474331" "00001847" "30" "455" "0" "455" "0" "c.455G>A" "r.(?)" "p.(Arg152Gln)" "5"
"0000474332" "00001847" "70" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000474333" "00001847" "70" "3938" "0" "3948" "0" "c.3938_3948delinsGGG" "r.(?)" "p.(Thr1313Argfs*106)" "27"
"0000474334" "00001847" "10" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000474335" "00001847" "90" "1714" "0" "1714" "0" "c.1714C>T" "r.(?)" "p.(Arg572*)" "12"
"0000474336" "00001847" "10" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000474337" "00001847" "10" "3899" "0" "3899" "0" "c.3899G>A" "r.(?)" "p.(Arg1300Gln)" "27"
"0000474338" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.(Leu257Valfs*17)" "6"
"0000474339" "00001847" "10" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000474340" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000474341" "00001847" "70" "4070" "0" "4070" "0" "c.4070C>T" "r.(?)" "p.(Ala1357Val)" "27"
"0000474342" "00001847" "50" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.(=)" "p.(=)" "36i"
"0000474343" "00001847" "10" "6529" "0" "6529" "0" "c.6529G>A" "r.(?)" "p.(Asp2177Asn)" "48"
"0000474344" "00001847" "30" "2701" "0" "2701" "0" "c.2701A>G" "r.(?)" "p.(Thr901Ala)" "18"
"0000474345" "00001847" "10" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000474346" "00001847" "90" "6601" "0" "6602" "0" "c.6601_6602del" "r.(?)" "p.(Arg2201Alafs*49)" "48"
"0000474347" "00001847" "10" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000474348" "00001847" "70" "5059" "0" "5059" "0" "c.5059A>T" "r.(?)" "p.(Ile1687Phe)" "36"
"0000474349" "00001847" "10" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000474350" "00001847" "70" "4919" "0" "4919" "0" "c.4919G>A" "r.(?)" "p.(Arg1640Gln)" "35"
"0000474351" "00001847" "10" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000474352" "00001847" "70" "5381" "0" "5381" "0" "c.5381C>A" "r.(?)" "p.(Ala1794Asp)" "38"
"0000474353" "00001847" "50" "161" "-23" "161" "-23" "c.161-23T>A" "r.spl?" "p.(?)" "2i"
"0000474354" "00001847" "70" "6449" "0" "6449" "0" "c.6449G>A" "r.(?)" "p.(Cys2150Tyr)" "47"
"0000474355" "00001847" "50" "4539" "2064" "4539" "2064" "c.4539+2064C>T" "r.(?)" "p.(=)" "30i"
"0000474356" "00001847" "50" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.(=)" "p.(=)" "36i"
"0000475715" "00001847" "50" "6772" "0" "6772" "0" "c.6772C>T" "r.(?)" "p.(Leu2258Phe)" ""
"0000475716" "00001847" "50" "6764" "0" "6764" "0" "c.6764G>T" "r.(?)" "p.(Ser2255Ile)" ""
"0000475717" "00001847" "10" "6730" "-3" "6730" "-3" "c.6730-3T>C" "r.spl?" "p.?" ""
"0000475718" "00001847" "90" "6609" "0" "6609" "0" "c.6609C>A" "r.(?)" "p.(Tyr2203*)" ""
"0000475719" "00001847" "90" "6445" "0" "6445" "0" "c.6445C>T" "r.(?)" "p.(Arg2149*)" ""
"0000475720" "00001847" "50" "6340" "0" "6340" "0" "c.6340G>A" "r.(?)" "p.(Val2114Met)" ""
"0000475721" "00001847" "50" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" ""
"0000475722" "00001847" "90" "6316" "0" "6316" "0" "c.6316C>T" "r.(?)" "p.(Arg2106Cys)" ""
"0000475723" "00001847" "50" "6305" "0" "6305" "0" "c.6305A>C" "r.(?)" "p.(Asp2102Ala)" ""
"0000475724" "00001847" "50" "6257" "0" "6257" "0" "c.6257T>G" "r.(?)" "p.(Ile2086Ser)" ""
"0000475725" "00001847" "50" "6119" "0" "6119" "0" "c.6119G>A" "r.(?)" "p.(Arg2040Gln)" ""
"0000475726" "00001847" "90" "5929" "0" "5929" "0" "c.5929G>A" "r.(?)" "p.(Gly1977Ser)" ""
"0000475727" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000475728" "00001847" "90" "5653" "0" "5653" "0" "c.5653G>A" "r.(?)" "p.(Glu1885Lys)" ""
"0000475729" "00001847" "50" "5611" "0" "5611" "0" "c.5611C>T" "r.(?)" "p.(His1871Tyr)" ""
"0000475730" "00001847" "50" "5593" "0" "5593" "0" "c.5593C>T" "r.(?)" "p.(His1865Tyr)" ""
"0000475731" "00001847" "50" "5575" "0" "5575" "0" "c.5575G>A" "r.(?)" "p.(Ala1859Thr)" ""
"0000475732" "00001847" "50" "4880" "0" "4880" "0" "c.4880T>C" "r.(?)" "p.(Leu1627Pro)" ""
"0000475733" "00001847" "50" "4773" "4" "4773" "4" "c.4773+4T>G" "r.spl?" "p.?" ""
"0000475734" "00001847" "50" "4771" "0" "4771" "0" "c.4771G>A" "r.(?)" "p.(Gly1591Arg)" ""
"0000475735" "00001847" "50" "4715" "0" "4715" "0" "c.4715C>T" "r.(?)" "p.(Thr1572Met)" ""
"0000475736" "00001847" "50" "4700" "0" "4700" "0" "c.4700C>T" "r.(?)" "p.(Pro1567Leu)" ""
"0000475737" "00001847" "90" "4519" "0" "4519" "0" "c.4519G>A" "r.(?)" "p.(Gly1507Arg)" ""
"0000475738" "00001847" "90" "4462" "0" "4462" "0" "c.4462T>C" "r.(?)" "p.(Cys1488Arg)" ""
"0000475739" "00001847" "50" "4426" "0" "4426" "0" "c.4426A>G" "r.(?)" "p.(Lys1476Glu)" ""
"0000475740" "00001847" "90" "4328" "0" "4328" "0" "c.4328G>A" "r.(?)" "p.(Arg1443His)" ""
"0000475741" "00001847" "90" "4297" "0" "4297" "0" "c.4297G>A" "r.(?)" "p.(Val1433Ile)" ""
"0000475742" "00001847" "50" "4283" "0" "4283" "0" "c.4283C>T" "r.(?)" "p.(Thr1428Met)" ""
"0000475743" "00001847" "90" "4195" "0" "4195" "0" "c.4195G>A" "r.(?)" "p.(Glu1399Lys)" ""
"0000475744" "00001847" "50" "4079" "0" "4079" "0" "c.4079T>C" "r.(?)" "p.(Val1360Ala)" ""
"0000475745" "00001847" "50" "3727" "0" "3727" "0" "c.3727T>G" "r.(?)" "p.(Tyr1243Asp)" ""
"0000475746" "00001847" "50" "3626" "0" "3626" "0" "c.3626T>C" "r.(?)" "p.(Met1209Thr)" ""
"0000475747" "00001847" "50" "3625" "0" "3625" "0" "c.3625A>C" "r.(?)" "p.(Met1209Leu)" ""
"0000475748" "00001847" "10" "3547" "0" "3547" "0" "c.3547G>T" "r.(?)" "p.(Gly1183Cys)" ""
"0000475749" "00001847" "90" "3287" "0" "3287" "0" "c.3287C>T" "r.(?)" "p.(Ser1096Leu)" ""
"0000475750" "00001847" "50" "3164" "0" "3164" "0" "c.3164G>A" "r.(?)" "p.(Arg1055Gln)" ""
"0000475751" "00001847" "50" "3119" "0" "3119" "0" "c.3119T>C" "r.(?)" "p.(Leu1040Pro)" ""
"0000475752" "00001847" "50" "3117" "0" "3117" "0" "c.3117G>C" "r.(?)" "p.(Gln1039His)" ""
"0000475753" "00001847" "50" "2924" "0" "2924" "0" "c.2924T>C" "r.(?)" "p.(Ile975Thr)" ""
"0000475754" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" ""
"0000475755" "00001847" "50" "2857" "0" "2877" "0" "c.2857_2877del" "r.(?)" "p.(Phe953_Thr959del)" ""
"0000475756" "00001847" "50" "2828" "0" "2828" "0" "c.2828G>A" "r.(?)" "p.(Arg943Gln)" ""
"0000475757" "00001847" "50" "2791" "0" "2791" "0" "c.2791G>T" "r.(?)" "p.(Val931Leu)" ""
"0000475758" "00001847" "50" "2759" "0" "2759" "0" "c.2759G>A" "r.(?)" "p.(Arg920His)" ""
"0000475759" "00001847" "10" "2744" "-5" "2744" "-5" "c.2744-5C>T" "r.spl?" "p.?" ""
"0000475760" "00001847" "50" "2464" "0" "2464" "0" "c.2464A>G" "r.(?)" "p.(Ser822Gly)" ""
"0000475761" "00001847" "50" "1969" "0" "1969" "0" "c.1969A>G" "r.(?)" "p.(Ile657Val)" ""
"0000475762" "00001847" "50" "1862" "0" "1862" "0" "c.1862G>C" "r.(?)" "p.(Arg621Thr)" ""
"0000475763" "00001847" "90" "1811" "0" "1811" "0" "c.1811T>G" "r.(?)" "p.(Ile604Ser)" ""
"0000475764" "00001847" "90" "1760" "2" "1760" "2" "c.1760+2T>G" "r.spl?" "p.?" ""
"0000475765" "00001847" "50" "1699" "0" "1699" "0" "c.1699G>A" "r.(?)" "p.(Val567Met)" ""
"0000475766" "00001847" "50" "1615" "0" "1615" "0" "c.1615C>G" "r.(?)" "p.(Leu539Val)" ""
"0000475767" "00001847" "90" "1532" "0" "1532" "0" "c.1532G>A" "r.(?)" "p.(Arg511His)" ""
"0000475768" "00001847" "90" "1531" "0" "1531" "0" "c.1531C>T" "r.(?)" "p.(Arg511Cys)" ""
"0000475769" "00001847" "50" "1351" "0" "1351" "0" "c.1351A>C" "r.(?)" "p.(Ile451Leu)" ""
"0000475770" "00001847" "50" "1294" "0" "1294" "0" "c.1294G>A" "r.(?)" "p.(Glu432Lys)" ""
"0000475771" "00001847" "10" "1268" "0" "1268" "0" "c.1268A>G" "r.(?)" "p.(His423Arg)" ""
"0000475772" "00001847" "50" "791" "0" "791" "0" "c.791G>A" "r.(?)" "p.(Arg264His)" ""
"0000475773" "00001847" "50" "790" "0" "790" "0" "c.790C>T" "r.(?)" "p.(Arg264Cys)" ""
"0000475774" "00001847" "50" "764" "0" "764" "0" "c.764G>A" "r.(?)" "p.(Arg255His)" ""
"0000475775" "00001847" "90" "763" "0" "763" "0" "c.763C>T" "r.(?)" "p.(Arg255Cys)" ""
"0000475776" "00001847" "50" "676" "0" "676" "0" "c.676C>T" "r.(?)" "p.(Arg226Cys)" ""
"0000475777" "00001847" "50" "673" "0" "673" "0" "c.673G>A" "r.(?)" "p.(Val225Met)" ""
"0000475778" "00001847" "10" "635" "0" "635" "0" "c.635G>A" "r.(?)" "p.(Arg212His)" ""
"0000475779" "00001847" "50" "575" "0" "575" "0" "c.575C>T" "r.(?)" "p.(Ala192Val)" ""
"0000475780" "00001847" "50" "571" "-5" "571" "-5" "c.571-5T>G" "r.spl?" "p.?" ""
"0000475781" "00001847" "90" "570" "2" "570" "2" "c.570+2T>G" "r.spl?" "p.?" ""
"0000475782" "00001847" "90" "443" "-3" "443" "0" "c.443-3_443del" "r.spl?" "p.?" ""
"0000475783" "00001847" "50" "341" "0" "341" "0" "c.341T>C" "r.(?)" "p.(Met114Thr)" ""
"0000475784" "00001847" "50" "317" "0" "317" "0" "c.317A>T" "r.(?)" "p.(Tyr106Phe)" ""
"0000477401" "00001847" "50" "6764" "0" "6764" "0" "c.6764G>T" "r.(?)" "p.(Ser2255Ile)" ""
"0000477402" "00001847" "10" "6730" "-3" "6730" "-3" "c.6730-3T>C" "r.spl?" "p.?" ""
"0000477403" "00001847" "50" "6305" "0" "6305" "0" "c.6305A>C" "r.(?)" "p.(Asp2102Ala)" ""
"0000477404" "00001847" "50" "4283" "0" "4283" "0" "c.4283C>T" "r.(?)" "p.(Thr1428Met)" ""
"0000477405" "00001847" "50" "1294" "0" "1294" "0" "c.1294G>A" "r.(?)" "p.(Glu432Lys)" ""
"0000477406" "00001847" "10" "1268" "0" "1268" "0" "c.1268A>G" "r.(?)" "p.(His423Arg)" ""
"0000477407" "00001847" "10" "635" "0" "635" "0" "c.635G>A" "r.(?)" "p.(Arg212His)" ""
"0000477408" "00001847" "50" "317" "0" "317" "0" "c.317A>T" "r.(?)" "p.(Tyr106Phe)" ""
"0000477618" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.?" "40i"
"0000477619" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.?" "40i"
"0000477620" "00001847" "30" "455" "0" "455" "0" "c.455G>A" "r.(?)" "p.(Arg152Gln)" "5"
"0000477621" "00001847" "30" "455" "0" "455" "0" "c.455G>A" "r.(?)" "p.(Arg152Gln)" "5"
"0000477622" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.?" "40i"
"0000477623" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.?" "40i"
"0000477624" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.?" "38i"
"0000477625" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.?" "38i"
"0000477626" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.?" "38i"
"0000477627" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.?" "40i"
"0000477628" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.?" "40i"
"0000477629" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.?" "40i"
"0000477630" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000477631" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.?" "38i"
"0000477632" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.?" "40i"
"0000477633" "00001847" "90" "1522" "0" "1522" "0" "c.1522C>T" "r.(?)" "p.(Arg508Cys)" "11"
"0000477634" "00001847" "90" "1522" "0" "1522" "0" "c.1522C>T" "r.(?)" "p.(Arg508Cys)" "11"
"0000477635" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.?" "40i"
"0000477636" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.?" "40i"
"0000477637" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000477638" "00001847" "90" "2564" "0" "2564" "0" "c.2564G>A" "r.(?)" "p.(Trp855*)" "16"
"0000477639" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.?" "40i"
"0000477640" "00001847" "30" "455" "0" "455" "0" "c.455G>A" "r.(?)" "p.(Arg152Gln)" "5"
"0000477641" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.(Gly863Ala)" "17"
"0000477642" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.?" "38i"
"0000477643" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.?" "38i"
"0000477644" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.?" "40i"
"0000477645" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.?" "40i"
"0000477646" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.?" "40i"
"0000477647" "00001847" "90" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" "31"
"0000477648" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.?" "40i"
"0000477649" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.?" "40i"
"0000477650" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.?" "40i"
"0000477651" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.?" "40i"
"0000477652" "00001847" "90" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000477653" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.?" "40i"
"0000477654" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.(Gly863Ala)" "17"
"0000477655" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.?" "40i"
"0000477656" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.?" "40i"
"0000477657" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.?" "40i"
"0000477658" "00001847" "90" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" "31"
"0000477659" "00001847" "90" "2564" "0" "2564" "0" "c.2564G>A" "r.(?)" "p.(Trp855*)" "16"
"0000477660" "00001847" "90" "2564" "0" "2564" "0" "c.2564G>A" "r.(?)" "p.(Trp855*)" "16"
"0000477661" "00001847" "90" "2564" "0" "2564" "0" "c.2564G>A" "r.(?)" "p.(Trp855*)" "16"
"0000477662" "00001847" "90" "2564" "0" "2564" "0" "c.2564G>A" "r.(?)" "p.(Trp855*)" "16"
"0000477663" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000477664" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000477665" "00001847" "90" "3323" "0" "3323" "0" "c.3323G>A" "r.(?)" "p.(Arg1108His)" "22"
"0000477666" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000477667" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000477668" "00001847" "90" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000477669" "00001847" "90" "4537" "0" "4537" "0" "c.4537del" "r.(?)" "p.(Gln1513Argfs*13)" "30"
"0000477670" "00001847" "30" "455" "0" "455" "0" "c.455G>A" "r.(?)" "p.(Arg152Gln)" "5"
"0000477671" "00001847" "30" "455" "0" "455" "0" "c.455G>A" "r.(?)" "p.(Arg152Gln)" "5"
"0000477672" "00001847" "30" "455" "0" "455" "0" "c.455G>A" "r.(?)" "p.(Arg152Gln)" "5"
"0000477673" "00001847" "30" "455" "0" "455" "0" "c.455G>A" "r.(?)" "p.(Arg152Gln)" "5"
"0000477674" "00001847" "30" "455" "0" "455" "0" "c.455G>A" "r.(?)" "p.(Arg152Gln)" "5"
"0000477675" "00001847" "30" "455" "0" "455" "0" "c.455G>A" "r.(?)" "p.(Arg152Gln)" "5"
"0000477676" "00001847" "90" "4163" "0" "4163" "0" "c.4163T>C" "r.(?)" "p.(Leu1388Pro)" "28"
"0000477677" "00001847" "90" "4163" "0" "4163" "0" "c.4163T>C" "r.(?)" "p.(Leu1388Pro)" "28"
"0000477678" "00001847" "90" "4163" "0" "4163" "0" "c.4163T>C" "r.(?)" "p.(Leu1388Pro)" "28"
"0000477679" "00001847" "90" "4163" "0" "4163" "0" "c.4163T>C" "r.(?)" "p.(Leu1388Pro)" "28"
"0000477680" "00001847" "90" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" "31"
"0000477681" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.?" "38i"
"0000477682" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.?" "38i"
"0000477683" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.?" "38i"
"0000477684" "00001847" "90" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" "44"
"0000477685" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000477686" "00001847" "90" "6449" "0" "6449" "0" "c.6449G>A" "r.(?)" "p.(Cys2150Tyr)" "47"
"0000477687" "00001847" "90" "67" "-1" "67" "-1" "c.67-1del" "r.spl" "p.?" "1i"
"0000477688" "00001847" "90" "67" "-1" "67" "-1" "c.67-1del" "r.spl" "p.?" "1i"
"0000477689" "00001847" "90" "67" "-1" "67" "-1" "c.67-1del" "r.spl" "p.?" "1i"
"0000477690" "00001847" "90" "4163" "0" "4163" "0" "c.4163T>C" "r.(?)" "p.(Leu1388Pro)" "28"
"0000477691" "00001847" "90" "4163" "0" "4163" "0" "c.4163T>C" "r.(?)" "p.(Leu1388Pro)" "28"
"0000477692" "00001847" "90" "4163" "0" "4163" "0" "c.4163T>C" "r.(?)" "p.(Leu1388Pro)" "28"
"0000487537" "00001847" "90" "1417" "0" "1420" "0" "c.1417_1420dup" "r.(?)" "p.(Thr474Asnfs*4)" "11"
"0000487538" "00001847" "70" "4854" "0" "4854" "0" "c.4854G>C" "r.(?)" "p.(Trp1618Cys)" "35"
"0000487539" "00001847" "70" "6282" "3" "6282" "3" "c.6282+3A>T" "r.spl?" "p.?" "45i"
"0000487540" "00001847" "70" "3383" "0" "3383" "0" "c.3383A>G" "r.(?)" "p.(Asp1128Gly)" "23"
"0000487541" "00001847" "90" "4804" "0" "4804" "0" "c.4804del" "r.(?)" "p.(Ile1602Tyrfs*8)" "34"
"0000487594" "00001847" "50" "101" "0" "106" "0" "c.101_106del" "r.(?)" "p.(Ser34_Leu35del)" "2"
"0000487595" "00001847" "50" "4610" "0" "4610" "0" "c.4610C>T" "r.(?)" "p.(Thr1537Met)" "31"
"0000487615" "00001847" "90" "3522" "1" "3522" "1" "c.3522+1G>A" "r.spl" "p.?" "23i"
"0000487616" "00001847" "90" "3212" "0" "3212" "0" "c.3212C>A" "r.(?)" "p.(Ser1071*)" "22"
"0000487620" "00001847" "90" "5761" "0" "5761" "0" "c.5761G>A" "r.(?)" "p.(Val1921Met)" "41"
"0000487621" "00001847" "90" "2774" "0" "2774" "0" "c.2774G>A" "r.(?)" "p.(Trp925*)" "19"
"0000487623" "00001847" "90" "6282" "1" "6282" "1" "c.6282+1G>A" "r.spl" "p.?" "45i"
"0000487626" "00001847" "90" "94" "0" "94" "0" "c.94C>A" "r.(?)" "p.(Pro32Thr)" "2"
"0000487627" "00001847" "90" "4561" "0" "4561" "0" "c.4561del" "r.(?)" "p.(Ile1521Phefs*5)" "31"
"0000487628" "00001847" "90" "95" "0" "95" "0" "c.95C>T" "r.(?)" "p.(Pro32Leu)" "2"
"0000487630" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000487632" "00001847" "90" "1006" "0" "1006" "0" "c.1006del" "r.(?)" "p.(Ser336Profs*38)" "8"
"0000487636" "00001847" "90" "4253" "5" "4253" "5" "c.4253+5G>A" "r.spl?" "p.?" "28i"
"0000487637" "00001847" "90" "1819" "0" "1819" "0" "c.1819G>A" "r.(?)" "p.(Gly607Arg)" "13"
"0000487643" "00001847" "90" "3634" "0" "3634" "0" "c.3634G>T" "r.(?)" "p.(Val1212Phe)" "25"
"0000487645" "00001847" "90" "6286" "0" "6286" "0" "c.6286G>A" "r.(?)" "p.(Glu2096Lys)" "46"
"0000487647" "00001847" "50" "3482" "0" "3482" "0" "c.3482G>A" "r.(?)" "p.(Arg1161His)" "23"
"0000487648" "00001847" "50" "5915" "0" "5915" "0" "c.5915G>A" "r.(?)" "p.(Gly1972Glu)" "43"
"0000487650" "00001847" "50" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000487653" "00001847" "50" "6563" "0" "6563" "0" "c.6563T>C" "r.(?)" "p.(Phe2188Ser)" "48"
"0000487655" "00001847" "50" "6445" "0" "6445" "0" "c.6445C>T" "r.(?)" "p.(Arg2149*)" "47"
"0000487656" "00001847" "50" "6389" "0" "6389" "0" "c.6389T>A" "r.(?)" "p.(Met2130Lys)" "47"
"0000487657" "00001847" "50" "6282" "1" "6282" "1" "c.6282+1G>A" "r.spl" "p.?" "45i"
"0000487658" "00001847" "50" "1099" "5" "1099" "5" "c.1099+5G>A" "r.spl?" "p.?" "8i"
"0000487660" "00001847" "50" "101" "0" "106" "0" "c.101_106del" "r.(?)" "p.(Ser34_Leu35del)" "2"
"0000487663" "00001847" "50" "2261" "0" "2261" "0" "c.2261T>C" "r.(?)" "p.(Phe754Ser)" "15"
"0000487664" "00001847" "50" "1819" "0" "1819" "0" "c.1819G>A" "r.(?)" "p.(Gly607Arg)" "13"
"0000487666" "00001847" "50" "4853" "0" "4853" "0" "c.4853G>A" "r.(?)" "p.(Trp1618*)" "35"
"0000487667" "00001847" "50" "2177" "0" "2177" "0" "c.2177del" "r.(?)" "p.(His726Leufs*61)" "15"
"0000487669" "00001847" "50" "2177" "0" "2177" "0" "c.2177del" "r.(?)" "p.(His726Leufs*61)" "15"
"0000487670" "00001847" "50" "1372" "0" "1372" "0" "c.1372C>T" "r.(?)" "p.(Pro458Ser)" "11"
"0000487671" "00001847" "50" "2261" "0" "2261" "0" "c.2261T>C" "r.(?)" "p.(Phe754Ser)" "15"
"0000487673" "00001847" "50" "1906" "0" "1906" "0" "c.1906C>A" "r.(?)" "p.(Gln636Lys)" "13"
"0000487674" "00001847" "50" "1522" "0" "1522" "0" "c.1522C>T" "r.(?)" "p.(Arg508Cys)" "11"
"0000489015" "00001847" "50" "1906" "0" "1906" "0" "c.1906C>A" "r.(?)" "p.(Gln636Lys)" "13"
"0000489016" "00001847" "50" "1522" "0" "1522" "0" "c.1522C>T" "r.(?)" "p.(Arg508Cys)" "11"
"0000489017" "00001847" "50" "1372" "0" "1372" "0" "c.1372C>T" "r.(?)" "p.(Pro458Ser)" "11"
"0000489018" "00001847" "90" "1006" "0" "1006" "0" "c.1006del" "r.(?)" "p.(Ser336Profs*38)" "8"
"0000489020" "00001847" "50" "3323" "0" "3323" "0" "c.3323G>A" "r.(?)" "p.(Arg1108His)" "22"
"0000489022" "00001847" "50" "4253" "4" "4253" "4" "c.4253+4C>T" "r.spl?" "p.?" "28i"
"0000489024" "00001847" "50" "5327" "0" "5327" "0" "c.5327C>T" "r.(?)" "p.(Pro1776Leu)" "38"
"0000489025" "00001847" "50" "101" "0" "106" "0" "c.101_106del" "r.(?)" "p.(Ser34_Leu35del)" "2"
"0000489028" "00001847" "50" "6148" "-2" "6148" "-2" "c.6148-2A>T" "r.spl" "p.?" "44i"
"0000489029" "00001847" "50" "1648" "0" "1648" "0" "c.1648G>A" "r.(?)" "p.(Gly550Arg)" "12"
"0000489031" "00001847" "50" "5527" "0" "5527" "0" "c.5527C>T" "r.(?)" "p.(Arg1843Trp)" "39"
"0000489033" "00001847" "50" "858" "1" "858" "1" "c.858+1G>T" "r.spl" "p.?" "7i"
"0000489036" "00001847" "50" "5100" "0" "5100" "0" "c.5100T>G" "r.(?)" "p.(Tyr1700*)" "36"
"0000489037" "00001847" "50" "101" "0" "106" "0" "c.101_106del" "r.(?)" "p.(Ser34_Leu35del)" "2"
"0000489046" "00001847" "50" "6625" "0" "6625" "0" "c.6625C>T" "r.(?)" "p.(Gln2209*)" "48"
"0000489047" "00001847" "50" "101" "0" "106" "0" "c.101_106del" "r.(?)" "p.(Ser34_Leu35del)" "2"
"0000489049" "00001847" "50" "6625" "0" "6625" "0" "c.6625C>T" "r.(?)" "p.(Gln2209*)" "30"
"0000489050" "00001847" "50" "101" "0" "106" "0" "c.101_106del" "r.(?)" "p.(Ser34_Leu35del)" "2"
"0000489052" "00001847" "50" "4383" "0" "4383" "0" "c.4383G>A" "r.(?)" "p.(Trp1461*)" "30"
"0000489054" "00001847" "50" "1760" "0" "1760" "0" "c.1760G>A" "r.(?)" "p.(Arg587Lys)" "12"
"0000489065" "00001847" "50" "290" "0" "290" "0" "c.290A>G" "r.(?)" "p.(Tyr97Cys)" "3"
"0000489066" "00001847" "50" "101" "0" "106" "0" "c.101_106del" "r.(?)" "p.(Ser34_Leu35del)" "2"
"0000495285" "00001847" "50" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000495286" "00001847" "50" "4855" "0" "4855" "0" "c.4855T>C" "r.(?)" "p.(Phe1619Leu)" "35"
"0000495287" "00001847" "50" "3377" "0" "3377" "0" "c.3377T>G" "r.(?)" "p.(Leu1126Arg)" "23"
"0000495288" "00001847" "90" "1561" "0" "1561" "0" "c.1561del" "r.(?)" "p.(Val521Serfs*47)" "12"
"0000495289" "00001847" "90" "1561" "0" "1561" "0" "c.1561del" "r.(?)" "p.(Val521Serfs*47)" "12"
"0000495290" "00001847" "50" "6118" "0" "6118" "0" "c.6118C>T" "r.(?)" "p.(Arg2040*)" "44"
"0000495291" "00001847" "50" "1761" "-2" "1761" "-2" "c.1761-2A>G" "r.spl" "p.?" "12i"
"0000495292" "00001847" "50" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000497553" "00001847" "50" "1938" "-2" "1938" "-2" "c.1938-2A>G" "r.spl" "p.?" "13i"
"0000497554" "00001847" "50" "2424" "0" "2424" "0" "c.2424C>G" "r.(?)" "p.(Tyr808*)" "16"
"0000497555" "00001847" "90" "1561" "0" "1561" "0" "c.1561del" "r.(?)" "p.(Val521Serfs*47)" "12"
"0000497556" "00001847" "50" "6563" "0" "6563" "0" "c.6563T>C" "r.(?)" "p.(Phe2188Ser)" "48"
"0000497557" "00001847" "50" "4157" "0" "4157" "0" "c.4157del" "r.(?)" "p.(Leu1386Trpfs*3)" "28"
"0000497558" "00001847" "50" "1892" "0" "1892" "0" "c.1892G>T" "r.(?)" "p.(Gly631Val)" "13"
"0000497559" "00001847" "50" "1924" "0" "1924" "0" "c.1924T>A" "r.(?)" "p.(Phe642Ile)" "13"
"0000497560" "00001847" "50" "983" "0" "983" "0" "c.983A>T" "r.(?)" "p.(Glu328Val)" "8"
"0000497561" "00001847" "50" "3420" "0" "3420" "0" "c.3420C>G" "r.(?)" "p.(Cys1140Trp)" "23"
"0000497562" "00001847" "50" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000497563" "00001847" "50" "3262" "0" "3262" "0" "c.3262C>A" "r.(?)" "p.(Pro1088Thr)" "22"
"0000497564" "00001847" "50" "101" "0" "106" "0" "c.101_106del" "r.(?)" "p.(Ser34_Leu35del)" "2"
"0000497565" "00001847" "50" "1933" "0" "1933" "0" "c.1933G>A" "r.(?)" "p.(Asp645Asn)" "13"
"0000497566" "00001847" "50" "428" "0" "428" "0" "c.428del" "r.(?)" "p.(Pro143Argfs*11)" "4"
"0000497567" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000497568" "00001847" "50" "3420" "0" "3420" "0" "c.3420C>G" "r.(?)" "p.(Cys1140Trp)" "23"
"0000497569" "00001847" "50" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000497571" "00001847" "50" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000497572" "00001847" "50" "2023" "0" "2023" "0" "c.2023G>A" "r.(?)" "p.(Val675Ile)" "14"
"0000497574" "00001847" "50" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000497575" "00001847" "50" "6563" "0" "6563" "0" "c.6563T>C" "r.(?)" "p.(Phe2188Ser)" "48"
"0000497576" "00001847" "50" "5646" "0" "5646" "0" "c.5646G>A" "r.(?)" "p.(Met1882Ile)" "40"
"0000497578" "00001847" "50" "5584" "0" "5584" "0" "c.5584G>C" "r.(?)" "p.(Gly1862Arg)" "39"
"0000497579" "00001847" "50" "6389" "0" "6389" "0" "c.6389T>A" "r.(?)" "p.(Met2130Lys)" "47"
"0000497580" "00001847" "50" "2424" "0" "2424" "0" "c.2424C>G" "r.(?)" "p.(Tyr808*)" "16"
"0000497581" "00001847" "50" "3862" "1" "3862" "1" "c.3862+1G>A" "r.spl" "p.?" "26i"
"0000497582" "00001847" "90" "1382" "0" "1383" "0" "c.1382_1383del" "r.(?)" "p.(Lys461Argfs*5)" "11"
"0000497583" "00001847" "50" "1356" "4" "1356" "4" "c.1356+4A>G" "r.spl?" "p.?" "10i"
"0000497584" "00001847" "50" "6563" "0" "6563" "0" "c.6563T>C" "r.(?)" "p.(Phe2188Ser)" "48"
"0000497585" "00001847" "50" "101" "0" "106" "0" "c.101_106del" "r.(?)" "p.(Ser34_Leu35del)" "2"
"0000497586" "00001847" "50" "4283" "0" "4283" "0" "c.4283C>T" "r.(?)" "p.(Thr1428Met)" "29"
"0000497587" "00001847" "50" "3304" "0" "3304" "0" "c.3304G>T" "r.(?)" "p.(Asp1102Tyr)" "22"
"0000497588" "00001847" "50" "5050" "0" "5050" "0" "c.5050del" "r.(?)" "p.(Ile1684Serfs*3)" "36"
"0000497589" "00001847" "50" "2063" "0" "2063" "0" "c.2063dup" "r.(?)" "p.(Asn688Lysfs*78)" "14"
"0000497590" "00001847" "50" "1356" "4" "1356" "4" "c.1356+4A>G" "r.spl?" "p.?" "10i"
"0000497591" "00001847" "50" "5584" "5" "5584" "5" "c.5584+5G>A" "r.spl?" "p.?" "39i"
"0000497592" "00001847" "50" "5196" "1" "5196" "1" "c.5196+1G>A" "r.spl" "p.?" "36i"
"0000497593" "00001847" "50" "5761" "0" "5761" "0" "c.5761G>A" "r.(?)" "p.(Val1921Met)" "41"
"0000497594" "00001847" "50" "2023" "0" "2023" "0" "c.2023G>A" "r.(?)" "p.(Val675Ile)" "14"
"0000497595" "00001847" "50" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000497596" "00001847" "50" "1017" "0" "1017" "0" "c.1017G>A" "r.(?)" "p.(Trp339*)" "8"
"0000497597" "00001847" "50" "2996" "0" "2996" "0" "c.2996del" "r.(?)" "p.(Asp999Valfs*32)" "20"
"0000497598" "00001847" "50" "4919" "0" "4919" "0" "c.4919G>A" "r.(?)" "p.(Arg1640Gln)" "35"
"0000497599" "00001847" "50" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" "35"
"0000497600" "00001847" "90" "1006" "0" "1006" "0" "c.1006del" "r.(?)" "p.(Ser336Profs*38)" "8"
"0000497601" "00001847" "50" "3055" "0" "3055" "0" "c.3055A>G" "r.(?)" "p.(Thr1019Ala)" "21"
"0000497602" "00001847" "50" "1933" "0" "1933" "0" "c.1933G>A" "r.(?)" "p.(Asp645Asn)" "13"
"0000497603" "00001847" "50" "3089" "0" "3089" "0" "c.3089T>G" "r.(?)" "p.(Leu1030Arg)" "21"
"0000497604" "00001847" "50" "1761" "-2" "1761" "-2" "c.1761-2A>G" "r.spl" "p.?" "12i"
"0000497605" "00001847" "50" "5460" "4" "5460" "4" "c.5460+4A>T" "r.spl?" "p.?" "38i"
"0000497606" "00001847" "50" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000497607" "00001847" "50" "5646" "0" "5646" "0" "c.5646G>A" "r.(?)" "p.(Met1882Ile)" "40"
"0000497608" "00001847" "50" "6563" "0" "6563" "0" "c.6563T>C" "r.(?)" "p.(Phe2188Ser)" "48"
"0000497609" "00001847" "50" "101" "0" "106" "0" "c.101_106del" "r.(?)" "p.(Ser34_Leu35del)" "2"
"0000497610" "00001847" "50" "3086" "0" "3086" "0" "c.3086A>C" "r.(?)" "p.(Gln1029Pro)" "21"
"0000497611" "00001847" "50" "101" "0" "106" "0" "c.101_106del" "r.(?)" "p.(Ser34_Leu35del)" "2"
"0000497612" "00001847" "50" "3476" "0" "3476" "0" "c.3476T>C" "r.(?)" "p.(Leu1159Ser)" "23"
"0000497613" "00001847" "50" "6389" "0" "6389" "0" "c.6389T>A" "r.(?)" "p.(Met2130Lys)" "47"
"0000497614" "00001847" "50" "167" "0" "167" "0" "c.167T>G" "r.(?)" "p.(Phe56Cys)" "3"
"0000497615" "00001847" "50" "1933" "0" "1933" "0" "c.1933G>A" "r.(?)" "p.(Asp645Asn)" "13"
"0000497616" "00001847" "50" "101" "0" "106" "0" "c.101_106del" "r.(?)" "p.(Ser34_Leu35del)" "2"
"0000497617" "00001847" "50" "5092" "0" "5092" "0" "c.5092G>T" "r.(?)" "p.(Val1698Phe)" "36"
"0000497618" "00001847" "50" "2923" "0" "2924" "0" "c.2923_2924insAACACAGGTCCA" "r.(?)" "p.(Ser974_Ile975insLysHisArgSer)" "20"
"0000497619" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000497620" "00001847" "50" "4066" "0" "4066" "0" "c.4066C>T" "r.(?)" "p.(Gln1356*)" "27"
"0000497621" "00001847" "50" "5761" "0" "5761" "0" "c.5761G>A" "r.(?)" "p.(Val1921Met)" "41"
"0000497622" "00001847" "90" "1382" "0" "1383" "0" "c.1382_1383del" "r.(?)" "p.(Lys461Argfs*5)" "11"
"0000497623" "00001847" "50" "286" "0" "286" "0" "c.286A>G" "r.(?)" "p.(Asn96Asp)" "3"
"0000497624" "00001847" "50" "5646" "0" "5646" "0" "c.5646G>A" "r.(?)" "p.(Met1882Ile)" "40"
"0000497625" "00001847" "50" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000497626" "00001847" "50" "6190" "0" "6190" "0" "c.6190G>A" "r.(?)" "p.(Ala2064Thr)" "45"
"0000497627" "00001847" "50" "2063" "0" "2063" "0" "c.2063dup" "r.(?)" "p.(Asn688Lysfs*78)" "14"
"0000497628" "00001847" "50" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl?" "p.?" "40i"
"0000497629" "00001847" "50" "6694" "0" "6694" "0" "c.6694G>T" "r.(?)" "p.(Glu2232*)" "48"
"0000497631" "00001847" "50" "6190" "0" "6190" "0" "c.6190G>A" "r.(?)" "p.(Ala2064Thr)" "45"
"0000497632" "00001847" "50" "1982" "0" "1982" "0" "c.1982T>G" "r.(?)" "p.(Leu661Arg)" "14"
"0000497633" "00001847" "50" "53" "0" "53" "0" "c.53G>C" "r.(?)" "p.(Arg18Pro)" "1"
"0000497634" "00001847" "50" "1892" "0" "1892" "0" "c.1892G>T" "r.(?)" "p.(Gly631Val)" "13"
"0000497635" "00001847" "90" "1561" "0" "1561" "0" "c.1561del" "r.(?)" "p.(Val521Serfs*47)" "12"
"0000497636" "00001847" "50" "6112" "0" "6112" "0" "c.6112C>T" "r.(?)" "p.(Arg2038Trp)" "44"
"0000497637" "00001847" "50" "1760" "0" "1760" "0" "c.1760G>A" "r.(?)" "p.(Arg587Lys)" "12"
"0000497638" "00001847" "50" "6563" "0" "6563" "0" "c.6563T>C" "r.(?)" "p.(Phe2188Ser)" "48"
"0000497639" "00001847" "50" "2063" "0" "2063" "0" "c.2063dup" "r.(?)" "p.(Asn688Lysfs*78)" "14"
"0000497640" "00001847" "50" "6118" "0" "6118" "0" "c.6118C>T" "r.(?)" "p.(Arg2040*)" "44"
"0000497641" "00001847" "50" "283" "0" "283" "0" "c.283T>C" "r.(?)" "p.(Ser95Pro)" "3"
"0000497642" "00001847" "50" "3777" "0" "3777" "0" "c.3777C>G" "r.(=)" "p.(=)" "25"
"0000497643" "00001847" "50" "5935" "0" "5935" "0" "c.5935del" "r.(?)" "p.(Thr1979Glnfs*13)" "43"
"0000497644" "00001847" "50" "164" "0" "164" "0" "c.164A>G" "r.(?)" "p.(His55Arg)" "3"
"0000497645" "00001847" "50" "1017" "0" "1017" "0" "c.1017G>A" "r.(?)" "p.(Trp339*)" "8"
"0000497646" "00001847" "50" "6112" "0" "6112" "0" "c.6112C>T" "r.(?)" "p.(Arg2038Trp)" ""
"0000497647" "00001847" "50" "3604" "0" "3604" "0" "c.3604G>A" "r.(?)" "p.(Asp1202Asn)" ""
"0000497648" "00001847" "50" "6112" "0" "6112" "0" "c.6112C>T" "r.(?)" "p.(Arg2038Trp)" "44"
"0000497649" "00001847" "50" "4316" "0" "4316" "0" "c.4316G>T" "r.(?)" "p.(Gly1439Val)" "29"
"0000497650" "00001847" "50" "3055" "0" "3055" "0" "c.3055A>G" "r.(?)" "p.(Thr1019Ala)" "21"
"0000497651" "00001847" "50" "5050" "0" "5050" "0" "c.5050del" "r.(?)" "p.(Ile1684Serfs*3)" "36"
"0000497652" "00001847" "50" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000497653" "00001847" "50" "101" "0" "106" "0" "c.101_106del" "r.(?)" "p.(Ser34_Leu35del)" "2"
"0000497654" "00001847" "50" "1819" "0" "1819" "0" "c.1819G>A" "r.(?)" "p.(Gly607Arg)" "13"
"0000497655" "00001847" "50" "983" "0" "983" "0" "c.983A>T" "r.(?)" "p.(Glu328Val)" "8"
"0000497656" "00001847" "90" "1382" "0" "1383" "0" "c.1382_1383del" "r.(?)" "p.(Lys461Argfs*5)" "11"
"0000497657" "00001847" "50" "42" "0" "42" "0" "c.42C>A" "r.(?)" "p.(Asn14Lys)" "1"
"0000497658" "00001847" "70" "298" "0" "298" "0" "c.298T>C" "r.(?)" "p.(Ser100Pro)" "3"
"0000497659" "00001847" "50" "4316" "0" "4316" "0" "c.4316G>T" "r.(?)" "p.(Gly1439Val)" "29"
"0000497660" "00001847" "50" "970" "0" "970" "0" "c.970T>C" "r.(?)" "p.(Cys324Arg)" "8"
"0000508598" "00001847" "10" "6732" "0" "6732" "0" "c.6732G>A" "r.(?)" "p.(Val2244=)" ""
"0000508599" "00001847" "50" "6729" "5" "6729" "19" "c.6729+5_6729+19del" "r.spl?" "p.?" ""
"0000508600" "00001847" "50" "6721" "0" "6721" "0" "c.6721C>G" "r.(?)" "p.(Leu2241Val)" ""
"0000508601" "00001847" "90" "6704" "0" "6704" "0" "c.6704C>G" "r.(?)" "p.(Ser2235Ter)" ""
"0000508602" "00001847" "70" "6545" "0" "6580" "0" "c.6545_6580del" "r.(?)" "p.(Leu2182_Phe2193del)" ""
"0000508603" "00001847" "50" "6454" "0" "6454" "0" "c.6454G>T" "r.(?)" "p.(Gly2152Cys)" ""
"0000508604" "00001847" "50" "6416" "0" "6416" "0" "c.6416G>A" "r.(?)" "p.(Arg2139Gln)" ""
"0000508605" "00001847" "50" "6397" "0" "6397" "0" "c.6397T>C" "r.(?)" "p.(Cys2133Arg)" ""
"0000508606" "00001847" "10" "6255" "0" "6255" "0" "c.6255C>T" "r.(?)" "p.(Leu2085=)" ""
"0000508607" "00001847" "50" "6218" "0" "6218" "0" "c.6218G>C" "r.(?)" "p.(Gly2073Ala)" ""
"0000508608" "00001847" "30" "6148" "0" "6148" "0" "c.6148G>C" "r.(?)" "p.(Val2050Leu)" ""
"0000508609" "00001847" "50" "6148" "0" "6148" "0" "c.6148G>C" "r.(?)" "p.(Val2050Leu)" ""
"0000508610" "00001847" "90" "6119" "0" "6119" "0" "c.6119G>A" "r.(?)" "p.(Arg2040Gln)" ""
"0000508612" "00001847" "90" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" ""
"0000508613" "00001847" "70" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" ""
"0000508615" "00001847" "50" "5606" "0" "5606" "0" "c.5606C>T" "r.(?)" "p.(Pro1869Leu)" ""
"0000508618" "00001847" "10" "5584" "13" "5584" "13" "c.5584+13C>T" "r.(=)" "p.(=)" ""
"0000508619" "00001847" "50" "5512" "0" "5512" "0" "c.5512C>G" "r.(?)" "p.(His1838Asp)" ""
"0000508620" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(=)" "p.(=)" ""
"0000508621" "00001847" "90" "5381" "0" "5381" "0" "c.5381C>A" "r.(?)" "p.(Ala1794Asp)" ""
"0000508622" "00001847" "90" "5381" "0" "5381" "0" "c.5381C>A" "r.(?)" "p.(Ala1794Asp)" ""
"0000508623" "00001847" "50" "5338" "0" "5338" "0" "c.5338C>G" "r.(?)" "p.(Pro1780Ala)" ""
"0000508624" "00001847" "90" "5337" "0" "5337" "0" "c.5337C>A" "r.(?)" "p.(Tyr1779Ter)" ""
"0000508625" "00001847" "50" "5329" "0" "5329" "0" "c.5329A>T" "r.(?)" "p.(Met1777Leu)" ""
"0000508626" "00001847" "30" "5312" "8" "5312" "8" "c.5312+8G>A" "r.(=)" "p.(=)" ""
"0000508627" "00001847" "30" "5208" "0" "5208" "0" "c.5208C>T" "r.(?)" "p.(Ser1736=)" ""
"0000508628" "00001847" "10" "5196" "1143" "5196" "1143" "c.5196+1143A>G" "r.(=)" "p.(=)" ""
"0000508629" "00001847" "90" "5196" "1013" "5196" "1013" "c.5196+1013A>G" "r.(=)" "p.(=)" ""
"0000508630" "00001847" "10" "5196" "20" "5196" "20" "c.5196+20G>A" "r.(=)" "p.(=)" ""
"0000508631" "00001847" "90" "5161" "0" "5162" "0" "c.5161_5162del" "r.(?)" "p.(Thr1721HisfsTer65)" ""
"0000508632" "00001847" "50" "4875" "0" "4875" "0" "c.4875T>A" "r.(?)" "p.(His1625Gln)" ""
"0000508633" "00001847" "10" "4849" "-8" "4849" "-8" "c.4849-8C>T" "r.(=)" "p.(=)" ""
"0000508634" "00001847" "30" "4771" "0" "4771" "0" "c.4771G>A" "r.(?)" "p.(Gly1591Arg)" ""
"0000508635" "00001847" "50" "4753" "0" "4753" "0" "c.4753C>T" "r.(?)" "p.(Arg1585Trp)" ""
"0000508636" "00001847" "50" "4685" "0" "4685" "0" "c.4685T>C" "r.(?)" "p.(Ile1562Thr)" ""
"0000508637" "00001847" "50" "4685" "0" "4685" "0" "c.4685T>C" "r.(?)" "p.(Ile1562Thr)" ""
"0000508638" "00001847" "10" "4634" "11" "4634" "11" "c.4634+11A>T" "r.(=)" "p.(=)" ""
"0000508639" "00001847" "50" "4571" "0" "4571" "0" "c.4571A>T" "r.(?)" "p.(Asp1524Val)" ""
"0000508640" "00001847" "90" "4539" "2064" "4539" "2064" "c.4539+2064C>T" "r.(=)" "p.(=)" ""
"0000508641" "00001847" "90" "4539" "2028" "4539" "2028" "c.4539+2028C>T" "r.(=)" "p.(=)" ""
"0000508642" "00001847" "90" "4539" "2028" "4539" "2028" "c.4539+2028C>T" "r.(=)" "p.(=)" ""
"0000508643" "00001847" "90" "4539" "1" "4539" "1" "c.4539+1G>T" "r.spl?" "p.?" ""
"0000508644" "00001847" "50" "4519" "0" "4519" "0" "c.4519G>T" "r.(?)" "p.(Gly1507Trp)" ""
"0000508645" "00001847" "90" "4506" "0" "4506" "0" "c.4506C>A" "r.(?)" "p.(Cys1502Ter)" ""
"0000508647" "00001847" "50" "4467" "0" "4467" "0" "c.4467G>T" "r.(?)" "p.(Arg1489Ser)" ""
"0000508648" "00001847" "90" "4436" "0" "4436" "0" "c.4436G>A" "r.(?)" "p.(Trp1479Ter)" ""
"0000508649" "00001847" "50" "4417" "0" "4417" "0" "c.4417C>A" "r.(?)" "p.(Leu1473Met)" ""
"0000508650" "00001847" "70" "4363" "0" "4363" "0" "c.4363T>C" "r.(?)" "p.(Cys1455Arg)" ""
"0000508651" "00001847" "30" "4352" "15" "4352" "15" "c.4352+15G>A" "r.(=)" "p.(=)" ""
"0000508652" "00001847" "50" "4254" "-15" "4254" "-15" "c.4254-15T>A" "r.(=)" "p.(=)" ""
"0000508653" "00001847" "90" "4253" "43" "4253" "43" "c.4253+43G>A" "r.(=)" "p.(=)" ""
"0000508654" "00001847" "70" "4253" "43" "4253" "43" "c.4253+43G>A" "r.(=)" "p.(=)" ""
"0000508655" "00001847" "90" "4253" "4" "4253" "4" "c.4253+4C>T" "r.spl?" "p.?" ""
"0000508656" "00001847" "30" "4194" "0" "4194" "0" "c.4194C>T" "r.(?)" "p.(Gly1398=)" ""
"0000508657" "00001847" "30" "4140" "0" "4140" "0" "c.4140G>A" "r.(?)" "p.(Pro1380=)" ""
"0000508658" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" ""
"0000508659" "00001847" "90" "4128" "1" "4128" "1" "c.4128+1G>A" "r.spl?" "p.?" ""
"0000508660" "00001847" "50" "4037" "0" "4037" "0" "c.4037C>G" "r.(?)" "p.(Thr1346Arg)" ""
"0000508661" "00001847" "90" "3874" "0" "3874" "0" "c.3874C>T" "r.(?)" "p.(Gln1292Ter)" ""
"0000508662" "00001847" "30" "3759" "0" "3759" "0" "c.3759G>A" "r.(?)" "p.(Thr1253=)" ""
"0000508663" "00001847" "10" "3663" "0" "3663" "0" "c.3663G>A" "r.(?)" "p.(Leu1221=)" ""
"0000508664" "00001847" "10" "3602" "0" "3602" "0" "c.3602T>G" "r.(?)" "p.(Leu1201Arg)" ""
"0000508665" "00001847" "50" "3335" "0" "3335" "0" "c.3335C>A" "r.(?)" "p.(Thr1112Asn)" ""
"0000508666" "00001847" "10" "3328" "18" "3328" "18" "c.3328+18G>A" "r.(=)" "p.(=)" ""
"0000508667" "00001847" "70" "3272" "0" "3272" "0" "c.3272G>A" "r.(?)" "p.(Gly1091Glu)" ""
"0000508669" "00001847" "50" "3233" "0" "3233" "0" "c.3233G>A" "r.(?)" "p.(Gly1078Glu)" ""
"0000508670" "00001847" "30" "3213" "0" "3213" "0" "c.3213G>A" "r.(?)" "p.(Ser1071=)" ""
"0000508671" "00001847" "50" "3190" "4" "3190" "4" "c.3190+4C>G" "r.spl?" "p.?" ""
"0000508672" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000508673" "00001847" "50" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000508674" "00001847" "30" "3063" "0" "3063" "0" "c.3063T>G" "r.(?)" "p.(Ala1021=)" ""
"0000508675" "00001847" "30" "3050" "6" "3050" "6" "c.3050+6C>T" "r.(=)" "p.(=)" ""
"0000508676" "00001847" "70" "2947" "0" "2947" "0" "c.2947A>G" "r.(?)" "p.(Thr983Ala)" ""
"0000508677" "00001847" "50" "2875" "0" "2875" "0" "c.2875A>T" "r.(?)" "p.(Thr959Ser)" ""
"0000508678" "00001847" "50" "2843" "0" "2843" "0" "c.2843G>A" "r.(?)" "p.(Arg948His)" ""
"0000508679" "00001847" "10" "2828" "0" "2828" "0" "c.2828G>A" "r.(?)" "p.(Arg943Gln)" ""
"0000508680" "00001847" "50" "2819" "0" "2819" "0" "c.2819C>G" "r.(?)" "p.(Pro940Arg)" ""
"0000508681" "00001847" "50" "2791" "0" "2791" "0" "c.2791G>A" "r.(?)" "p.(Val931Met)" ""
"0000508682" "00001847" "50" "2788" "0" "2788" "0" "c.2788T>A" "r.(?)" "p.(Cys930Ser)" ""
"0000508683" "00001847" "50" "2692" "0" "2692" "0" "c.2692G>A" "r.(?)" "p.(Glu898Lys)" ""
"0000508684" "00001847" "30" "2690" "0" "2690" "0" "c.2690C>T" "r.(?)" "p.(Thr897Ile)" ""
"0000508685" "00001847" "10" "2654" "-8" "2654" "-8" "c.2654-8T>G" "r.(=)" "p.(=)" ""
"0000508686" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.(Gly863Ala)" ""
"0000508687" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.(Gly863Ala)" ""
"0000508688" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.(Gly863Ala)" ""
"0000508689" "00001847" "30" "2588" "-12" "2588" "-12" "c.2588-12C>G" "r.(=)" "p.(=)" ""
"0000508690" "00001847" "50" "2546" "0" "2546" "0" "c.2546T>C" "r.(?)" "p.(Val849Ala)" ""
"0000508691" "00001847" "30" "2383" "-10" "2383" "-10" "c.2383-10C>G" "r.(=)" "p.(=)" ""
"0000508692" "00001847" "50" "2147" "0" "2147" "0" "c.2147C>T" "r.(?)" "p.(Thr716Met)" ""
"0000508693" "00001847" "90" "2041" "0" "2041" "0" "c.2041C>T" "r.(?)" "p.(Arg681Ter)" ""
"0000508694" "00001847" "30" "1928" "0" "1928" "0" "c.1928T>G" "r.(?)" "p.(Val643Gly)" ""
"0000508695" "00001847" "30" "1927" "0" "1927" "0" "c.1927G>A" "r.(?)" "p.(Val643Met)" ""
"0000508696" "00001847" "10" "1878" "0" "1878" "0" "c.1878G>A" "r.(?)" "p.(Ala626=)" ""
"0000508697" "00001847" "90" "1822" "0" "1822" "0" "c.1822T>A" "r.(?)" "p.(Phe608Ile)" ""
"0000508698" "00001847" "70" "1749" "0" "1749" "0" "c.1749G>C" "r.(?)" "p.(Lys583Asn)" ""
"0000508699" "00001847" "30" "1692" "0" "1692" "0" "c.1692A>G" "r.(?)" "p.(Pro564=)" ""
"0000508700" "00001847" "30" "1654" "0" "1654" "0" "c.1654G>A" "r.(?)" "p.(Val552Ile)" ""
"0000508701" "00001847" "50" "1654" "0" "1654" "0" "c.1654G>A" "r.(?)" "p.(Val552Ile)" ""
"0000508702" "00001847" "10" "1647" "0" "1647" "0" "c.1647C>T" "r.(?)" "p.(Ala549=)" ""
"0000508703" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" ""
"0000508704" "00001847" "30" "1610" "0" "1610" "0" "c.1610G>A" "r.(?)" "p.(Arg537His)" ""
"0000508705" "00001847" "50" "1610" "0" "1610" "0" "c.1610G>A" "r.(?)" "p.(Arg537His)" ""
"0000508706" "00001847" "70" "1522" "0" "1522" "0" "c.1522C>T" "r.(?)" "p.(Arg508Cys)" ""
"0000508707" "00001847" "50" "1509" "0" "1509" "0" "c.1509T>A" "r.(?)" "p.(Phe503Leu)" ""
"0000508708" "00001847" "10" "1356" "5" "1356" "6" "c.1356+5_1356+6insC" "r.spl?" "p.?" ""
"0000508709" "00001847" "10" "1356" "10" "1356" "10" "c.1356+10dup" "r.(=)" "p.(=)" ""
"0000508710" "00001847" "10" "1356" "10" "1356" "10" "c.1356+10dup" "r.(=)" "p.(=)" ""
"0000508711" "00001847" "10" "1302" "0" "1302" "0" "c.1302A>G" "r.(?)" "p.(Val434=)" ""
"0000508712" "00001847" "10" "1251" "0" "1251" "0" "c.1251T>C" "r.(?)" "p.(Thr417=)" ""
"0000508713" "00001847" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Ter)" ""
"0000508714" "00001847" "50" "1018" "0" "1018" "0" "c.1018T>C" "r.(?)" "p.(Tyr340His)" ""
"0000508715" "00001847" "50" "872" "0" "872" "0" "c.872C>T" "r.(?)" "p.(Pro291Leu)" ""
"0000508716" "00001847" "90" "859" "-9" "859" "-9" "c.859-9T>C" "r.(=)" "p.(=)" ""
"0000508717" "00001847" "50" "733" "0" "733" "0" "c.733T>C" "r.(?)" "p.(Tyr245His)" ""
"0000508718" "00001847" "50" "514" "0" "514" "0" "c.514G>A" "r.(?)" "p.(Gly172Ser)" ""
"0000508719" "00001847" "30" "466" "0" "466" "0" "c.466A>G" "r.(?)" "p.(Ile156Val)" ""
"0000508720" "00001847" "30" "466" "0" "466" "0" "c.466A>G" "r.(?)" "p.(Ile156Val)" ""
"0000508721" "00001847" "90" "319" "0" "319" "0" "c.319C>T" "r.(?)" "p.(Arg107Ter)" ""
"0000508722" "00001847" "10" "302" "20" "302" "20" "c.302+20C>T" "r.(=)" "p.(=)" ""
"0000508723" "00001847" "10" "237" "0" "237" "0" "c.237T>C" "r.(?)" "p.(Asn79=)" ""
"0000508724" "00001847" "30" "117" "0" "117" "0" "c.117G>A" "r.(?)" "p.(Leu39=)" ""
"0000508725" "00001847" "10" "87" "0" "87" "0" "c.87C>T" "r.(?)" "p.(Leu29=)" ""
"0000597314" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" ""
"0000597315" "00001847" "70" "3522" "1" "3522" "1" "c.3522+1G>A" "r.spl" "p.?" ""
"0000597316" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" ""
"0000597317" "00001847" "70" "4553" "0" "4553" "0" "c.4553G>A" "r.(?)" "p.(Ser1518Asn)" ""
"0000597318" "00001847" "90" "1561" "0" "1561" "0" "c.1561del" "r.(?)" "p.(Val521Serfs*47)" ""
"0000597319" "00001847" "90" "22" "0" "22" "0" "c.22C>T" "r.(?)" "p.(Gln8*)" ""
"0000597320" "00001847" "90" "6118" "0" "6118" "0" "c.6118C>T" "r.(?)" "p.(Arg2040*)" ""
"0000597337" "00001847" "90" "4352" "1" "4352" "1" "c.4352+1G>A" "r.spl" "p.?" ""
"0000597340" "00001847" "70" "101" "0" "106" "0" "c.101_106del" "r.(?)" "p.(Ser34_Leu35del)" ""
"0000597342" "00001847" "70" "4429" "0" "4429" "0" "c.4429C>T" "r.(?)" "p.(Gln1477*)" ""
"0000597343" "00001847" "50" "6083" "0" "6083" "0" "c.6083C>T" "r.(?)" "p.(Thr2028Ile)" ""
"0000597344" "00001847" "50" "1761" "-2" "1761" "-2" "c.1761-2A>G" "r.spl" "p.?" ""
"0000597346" "00001847" "90" "4720" "0" "4720" "0" "c.4720G>T" "r.(?)" "p.(Glu1574*)" ""
"0000597347" "00001847" "70" "6289" "0" "6289" "0" "c.6289C>T" "r.(?)" "p.(Pro2097Ser)" ""
"0000597348" "00001847" "70" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" ""
"0000597349" "00001847" "70" "3287" "0" "3287" "0" "c.3287C>T" "r.(?)" "p.(Ser1096Leu)" ""
"0000602993" "00001847" "70" "4849" "-2" "4849" "-2" "c.4849-2A>G" "r.(?)" "p.(?)" ""
"0000604204" "00001847" "90" "161" "0" "161" "0" "c.161G>A" "r.[161_302del,161g>a]" "p.[Cys54Serfs*14,Cys54Tyr]" "?"
"0000604205" "00001847" "10" "768" "358" "768" "358" "c.768+358C>T" "r.=" "p.=" "?"
"0000604206" "00001847" "10" "769" "-1778" "769" "-1778" "c.769-1778T>C" "r.=" "p.=" "?"
"0000604207" "00001847" "90" "1937" "5" "1937" "5" "c.1937+5G>A" "r.1806_1937del" "p.Tyr603_Ser646del" "?"
"0000604208" "00001847" "90" "1938" "-619" "1938" "-619" "c.1938-619A>G" "r.[1937_1938ins[1937+396_1937+529;1938-797_1938-624],1937_1938ins1938-797_1938-624]" "p.[Phe647Alafs*22,Phe647Serfs*22]" "?"
"0000604209" "00001847" "10" "2160" "584" "2160" "584" "c.2160+584A>G" "r.=" "p.=" "?"
"0000604210" "00001847" "90" "2161" "-8" "2161" "-8" "c.2161-8G>A" "r.2161_2382del" "p.[His721_Val794del]" "?"
"0000604211" "00001847" "90" "2919" "-826" "2919" "-826" "c.2919-826T>A" "r.[2918_2919ins2919-957_2919-825,=]" "p.[Leu973Phefs*1,=]" "?"
"0000604212" "00001847" "90" "3050" "370" "3050" "370" "c.3050+370C>T" "r.3050_3051ins3050+164_3050+368" "p.Leu1018Glufs*4" "?"
"0000604213" "00001847" "10" "3608" "-7" "3608" "-7" "c.3608-7G>A" "r.=" "p.=" "?"
"0000604214" "00001847" "90" "4352" "61" "4352" "61" "c.4352+61G>A" "r.[4352_4353ins4352+1_4352+57,=]" "p.[Glu1452*,=]" "?"
"0000604215" "00001847" "10" "4539" "1729" "4539" "1729" "c.4539+1729G>T" "r.=" "p.=" "?"
"0000604216" "00001847" "90" "4667" "0" "4667" "0" "c.4667G>A" "r.4635_4667del" "p.Ser1545_Gln1555del" "?"
"0000604217" "00001847" "90" "5018" "5" "5018" "5" "c.5018+5G>A" "r.4849_5018del" "p.Val1617Alafs*113" "?"
"0000604218" "00001847" "10" "5461" "-1389" "5461" "-1389" "c.5461-1389C>A" "r.=" "p.=" "?"
"0000604219" "00001847" "90" "5715" "-5" "5715" "-5" "c.5715-5T>G" "r.5461_5714delins5715-4_5715-1" "p.Thr1821Serfs*34" "?"
"0000604220" "00001847" "90" "6147" "0" "6147" "0" "c.6147G>A" "r.6006_6147del" "p.Ser2002Argfs*11" "?"
"0000604221" "00001847" "10" "6148" "-471" "6148" "-471" "c.6148-471C>T" "r.=" "p.=" "?"
"0000604222" "00001847" "90" "6385" "0" "6385" "0" "c.6385A>G" "r.6340_6386del" "p.Val2114Hisfs*4" "?"
"0000606007" "00001847" "90" "6088" "0" "6088" "0" "c.6088C>T" "r.(?)" "p.(Arg2030Ter)" ""
"0000606008" "00001847" "10" "5197" "-494" "5197" "-494" "c.5197-494G>A" "r.(=)" "p.(=)" ""
"0000606009" "00001847" "50" "4610" "0" "4610" "0" "c.4610C>T" "r.(?)" "p.(Thr1537Met)" ""
"0000606010" "00001847" "90" "4328" "0" "4328" "0" "c.4328G>A" "r.(?)" "p.(Arg1443His)" ""
"0000606011" "00001847" "50" "4316" "0" "4316" "0" "c.4316G>A" "r.(?)" "p.(Gly1439Asp)" ""
"0000606012" "00001847" "30" "3975" "0" "3975" "0" "c.3975G>A" "r.(?)" "p.(Pro1325=)" ""
"0000606013" "00001847" "30" "3868" "0" "3868" "0" "c.3868G>A" "r.(?)" "p.(Ala1290Thr)" ""
"0000606014" "00001847" "90" "3819" "0" "3819" "0" "c.3819dup" "r.(?)" "p.(Leu1274SerfsTer8)" ""
"0000606015" "00001847" "30" "3213" "0" "3213" "0" "c.3213G>A" "r.(?)" "p.(Ser1071=)" ""
"0000606016" "00001847" "50" "2819" "0" "2819" "0" "c.2819C>G" "r.(?)" "p.(Pro940Arg)" ""
"0000606017" "00001847" "30" "1653" "0" "1653" "0" "c.1653G>A" "r.(?)" "p.(Val551=)" ""
"0000606018" "00001847" "50" "1231" "0" "1233" "0" "c.1231_1233dup" "r.(?)" "p.(Leu411dup)" ""
"0000606019" "00001847" "90" "834" "0" "834" "0" "c.834del" "r.(?)" "p.(Asp279IlefsTer21)" ""
"0000630868" "00001847" "50" "1919" "0" "1919" "0" "c.1919C>T" "r.(?)" "p.(Pro640Leu)" ""
"0000630869" "00001847" "70" "1302" "0" "1302" "0" "c.1302del" "r.(?)" "p.(Gln437Argfs*12)" ""
"0000644176" "00001847" "90" "4786" "0" "4786" "0" "c.4786dup" "r.(?)" "p.(Arg1596Lysfs*5)" ""
"0000644178" "00001847" "90" "985" "0" "985" "0" "c.985G>T" "r.(?)" "p.(Gly329*)" ""
"0000647784" "00001847" "10" "6764" "0" "6764" "0" "c.6764G>T" "r.(?)" "p.(Ser2255Ile)" ""
"0000647785" "00001847" "70" "6119" "0" "6119" "0" "c.6119G>A" "r.(?)" "p.(Arg2040Gln)" ""
"0000647786" "00001847" "70" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" ""
"0000647787" "00001847" "50" "5908" "0" "5908" "0" "c.5908C>T" "r.(?)" "p.(Leu1970Phe)" ""
"0000647788" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000647789" "00001847" "70" "5391" "0" "5392" "0" "c.5391_5392del" "r.(?)" "p.(Ala1798*)" ""
"0000647790" "00001847" "70" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" ""
"0000647791" "00001847" "30" "4253" "13" "4253" "13" "c.4253+13G>A" "r.(=)" "p.(=)" ""
"0000647792" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" ""
"0000647793" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000647794" "00001847" "30" "2828" "0" "2828" "0" "c.2828G>A" "r.(?)" "p.(Arg943Gln)" ""
"0000647795" "00001847" "50" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.(Gly863Ala)" ""
"0000647796" "00001847" "50" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" ""
"0000647797" "00001847" "30" "1610" "0" "1610" "0" "c.1610G>A" "r.(?)" "p.(Arg537His)" ""
"0000647798" "00001847" "90" "763" "0" "763" "0" "c.763C>T" "r.(?)" "p.(Arg255Cys)" ""
"0000647800" "00001847" "70" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" ""
"0000647801" "00001847" "50" "370" "0" "370" "0" "c.370C>T" "r.(?)" "p.(Arg124Cys)" ""
"0000653313" "00001847" "50" "1715" "0" "1715" "0" "c.1715G>A" "r.(?)" "p.(Arg572Gln)" ""
"0000654128" "00001847" "90" "6148" "-1" "6148" "-1" "c.6148-1G>T" "r.spl?" "p.?" ""
"0000654129" "00001847" "90" "6088" "0" "6088" "0" "c.6088C>T" "r.(?)" "p.(Arg2030Ter)" ""
"0000654130" "00001847" "50" "5921" "0" "5921" "0" "c.5921A>G" "r.(?)" "p.(Asn1974Ser)" ""
"0000654131" "00001847" "50" "4850" "0" "4850" "0" "c.4850T>A" "r.(?)" "p.(Val1617Glu)" ""
"0000654132" "00001847" "50" "4519" "0" "4519" "0" "c.4519G>T" "r.(?)" "p.(Gly1507Trp)" ""
"0000654133" "00001847" "90" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" ""
"0000654134" "00001847" "30" "3759" "0" "3759" "0" "c.3759G>A" "r.(?)" "p.(Thr1253=)" ""
"0000654136" "00001847" "70" "3056" "0" "3056" "0" "c.3056C>T" "r.(?)" "p.(Thr1019Met)" ""
"0000654137" "00001847" "50" "2692" "0" "2692" "0" "c.2692G>A" "r.(?)" "p.(Glu898Lys)" ""
"0000654138" "00001847" "30" "2588" "-12" "2588" "-12" "c.2588-12C>G" "r.(=)" "p.(=)" ""
"0000654139" "00001847" "50" "2453" "0" "2453" "0" "c.2453G>A" "r.(?)" "p.(Gly818Glu)" ""
"0000654140" "00001847" "70" "286" "0" "286" "0" "c.286A>G" "r.(?)" "p.(Asn96Asp)" ""
"0000659823" "00001847" "90" "6148" "0" "6148" "0" "c.6148G>C" "r.(?)" "p.(Val2050Leu)" "46"
"0000663592" "00001847" "50" "1140" "0" "1140" "0" "c.1140T>A" "r.(?)" "p.(Asn380Lys)" ""
"0000669032" "00001847" "10" "6764" "0" "6764" "0" "c.6764G>T" "r.(?)" "p.(Ser2255Ile)" ""
"0000669033" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000669034" "00001847" "30" "2828" "0" "2828" "0" "c.2828G>A" "r.(?)" "p.(Arg943Gln)" ""
"0000669035" "00001847" "30" "635" "0" "635" "0" "c.635G>A" "r.(?)" "p.(Arg212His)" ""
"0000673650" "00001847" "90" "5018" "2" "5018" "2" "c.5018+2T>C" "r.(?)" "p.(?)" ""
"0000673651" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" ""
"0000674427" "00001847" "90" "859" "-506" "859" "-506" "c.859-506G>C" "r.[(858_859ins859-503_859-448,=)]" "p.[(Phe287Thrfs*32,=)]" "7i"
"0000674428" "00001847" "70" "1822" "0" "1822" "0" "c.1822T>A" "r.(?)" "p.(Phe608Ile)" "13"
"0000674429" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.(Leu257Valfs*17)" "6"
"0000674430" "00001847" "90" "4363" "0" "4363" "0" "c.4363T>C" "r.(?)" "p.(Cys1455Arg)" "30"
"0000674431" "00001847" "90" "818" "0" "818" "0" "c.818G>A" "r.(?)" "p.(Trp273*)" "7"
"0000674432" "00001847" "90" "1822" "0" "1822" "0" "c.1822T>A" "r.(?)" "p.(Phe608Ile)" "13"
"0000674433" "00001847" "90" "1822" "0" "1822" "0" "c.1822T>A" "r.(?)" "p.(Phe608Ile)" "13"
"0000674434" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.[(Thr1821Valfs*13,Thr1821Aspfs*6)]" "39i"
"0000674435" "00001847" "70" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" "31"
"0000674436" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.(Leu257Valfs*17)" "6"
"0000674437" "00001847" "90" "6155" "0" "6155" "0" "c.6155del" "r.(?)" "p.(Asn2052Thrfs*9)" "45"
"0000674438" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.[(Thr1821Valfs*13,Thr1821Aspfs*6)]" "39i"
"0000674439" "00001847" "90" "4539" "2001" "4539" "2001" "c.4539+2001G>A" "r.spl" "p.(Arg1514Leufs*36)" "30i"
"0000674440" "00001847" "90" "4773" "1" "4773" "1" "c.4773+1G>A" "r.spl" "p.?" "33i"
"0000674441" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000674442" "00001847" "90" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.spl" "p.?" "36i"
"0000674443" "00001847" "90" "4539" "1" "4539" "1" "c.4539+1G>T" "r.spl" "p.?" "31i"
"0000674444" "00001847" "90" "4539" "1" "4539" "1" "c.4539+1G>T" "r.spl" "p.?" "31i"
"0000674445" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.(Leu257Valfs*17)" "6"
"0000674446" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.[(=,2588_2560del)]" "p.[(Gly863Ala,Gly863del)]" "17"
"0000674447" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.(Leu257Valfs*17)" "6"
"0000674448" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.[(=,2588_2560del)]" "p.[(Gly863Ala,Gly863del)]" "17"
"0000674449" "00001847" "10" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000674450" "00001847" "10" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000674451" "00001847" "10" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000674452" "00001847" "10" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000674453" "00001847" "10" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000674454" "00001847" "10" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000674455" "00001847" "10" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000674456" "00001847" "10" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000674457" "00001847" "10" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000674458" "00001847" "10" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000674459" "00001847" "10" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000674460" "00001847" "10" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000674461" "00001847" "30" "6006" "-609" "6006" "-609" "c.6006-609T>A" "r.(=)" "p.(=)" "43i"
"0000674462" "00001847" "10" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000674463" "00001847" "90" "1937" "435" "1937" "435" "c.1937+435C>G" "r.[(=,1937_1938ins[1937+396_1937+434;g;1937+436_1938-624])]" "p.[(=,Ser646Serfs*25)]" "13i"
"0000674464" "00001847" "90" "1937" "435" "1937" "435" "c.1937+435C>G" "r.[(=,1937_1938ins[1937+396_1937+434;g;1937+436_1938-624])]" "p.[(=,Ser646Serfs*25)]" "13i"
"0000674465" "00001847" "90" "4253" "43" "4253" "43" "c.4253+43G>A" "r.[(=,4129_4253del,3863_4253del)]" "p.[(=,Ile1377Hisfs*3,Gly1288Ala*18)]" "28i"
"0000674466" "00001847" "90" "4253" "43" "4253" "43" "c.4253+43G>A" "r.[(=,4129_4253del,3863_4253del)]" "p.[(=,Ile1377Hisfs*3,Gly1288Ala*18)]" "28i"
"0000674467" "00001847" "90" "4253" "43" "4253" "43" "c.4253+43G>A" "r.[(=,4129_4253del,3863_4253del)]" "p.[(=,Ile1377Hisfs*3,Gly1288Ala*18)]" "28i"
"0000674468" "00001847" "90" "4253" "43" "4253" "43" "c.4253+43G>A" "r.[(=,4129_4253del,3863_4253del)]" "p.[(=,Ile1377Hisfs*3,Gly1288Ala*18)]" "28i"
"0000674469" "00001847" "90" "4253" "43" "4253" "43" "c.4253+43G>A" "r.[(=,4129_4253del,3863_4253del)]" "p.[(=,Ile1377Hisfs*3,Gly1288Ala*18)]" "28i"
"0000674470" "00001847" "90" "4253" "43" "4253" "43" "c.4253+43G>A" "r.[(=,4129_4253del,3863_4253del)]" "p.[(=,Ile1377Hisfs*3,Gly1288Ala*18)]" "28i"
"0000674471" "00001847" "90" "4253" "43" "4253" "43" "c.4253+43G>A" "r.[(=,4129_4253del,3863_4253del)]" "p.[(=,Ile1377Hisfs*3,Gly1288Ala*18)]" "28i"
"0000674472" "00001847" "90" "4253" "43" "4253" "43" "c.4253+43G>A" "r.[(=,4129_4253del,3863_4253del)]" "p.[(=,Ile1377Hisfs*3,Gly1288Ala*18)]" "28i"
"0000674473" "00001847" "90" "769" "-784" "769" "-784" "c.769-784C>T" "r.[(=,768_769ins769-778_769-617)]" "p.[(=,Leu257Aspfs*3)]" "6i"
"0000674474" "00001847" "90" "769" "-784" "769" "-784" "c.769-784C>T" "r.[(=,768_769ins769-778_769-617)]" "p.[(=,Leu257Aspfs*3)]" "6i"
"0000674475" "00001847" "90" "769" "-784" "769" "-784" "c.769-784C>T" "r.[(=,768_769ins769-778_769-617)]" "p.[(=,Leu257Aspfs*3)]" "6i"
"0000674476" "00001847" "90" "769" "-784" "769" "-784" "c.769-784C>T" "r.[(=,768_769ins769-778_769-617)]" "p.[(=,Leu257Aspfs*3)]" "6i"
"0000674477" "00001847" "90" "769" "-784" "769" "-784" "c.769-784C>T" "r.[(=,768_769ins769-778_769-617)]" "p.[(=,Leu257Aspfs*3)]" "6i"
"0000674478" "00001847" "90" "769" "-784" "769" "-784" "c.769-784C>T" "r.[(=,768_769ins769-778_769-617)]" "p.[(=,Leu257Aspfs*3)]" "6i"
"0000674479" "00001847" "90" "769" "-784" "769" "-784" "c.769-784C>T" "r.[(=,768_769ins769-778_769-617)]" "p.[(=,Leu257Aspfs*3)]" "6i"
"0000674480" "00001847" "30" "6006" "-609" "6006" "-609" "c.6006-609T>A" "r.(=)" "p.(=)" "43i"
"0000674481" "00001847" "30" "6006" "-609" "6006" "-609" "c.6006-609T>A" "r.(=)" "p.(=)" "43i"
"0000674482" "00001847" "30" "6006" "-609" "6006" "-609" "c.6006-609T>A" "r.(=)" "p.(=)" "43i"
"0000674483" "00001847" "30" "6006" "-609" "6006" "-609" "c.6006-609T>A" "r.(=)" "p.(=)" "43i"
"0000674484" "00001847" "30" "6006" "-609" "6006" "-609" "c.6006-609T>A" "r.(=)" "p.(=)" "43i"
"0000674485" "00001847" "30" "6006" "-609" "6006" "-609" "c.6006-609T>A" "r.(=)" "p.(=)" "43i"
"0000674486" "00001847" "90" "4539" "1100" "4539" "1100" "c.4539+1100A>G" "r.[(4539_4540ins[4539+1033_4539+1099;g],4539_4540ins[4539+989_4539+1099;g],=0}" "p.[Arg1514Valfs*31,Arg1514Glyfs*3]" "30i"
"0000674487" "00001847" "90" "4539" "1100" "4539" "1100" "c.4539+1100A>G" "r.[(4539_4540ins[4539+1033_4539+1099;g],4539_4540ins[4539+989_4539+1099;g],=0}" "p.[Arg1514Valfs*31, Arg1514Glyfs*3]" "30i"
"0000674488" "00001847" "90" "859" "-506" "859" "-506" "c.859-506G>C" "r.[(858_859ins859-503_859-448,=)]" "p.[(Phe287Thrfs*32,=)]" "7i"
"0000674489" "00001847" "90" "859" "-506" "859" "-506" "c.859-506G>C" "r.[(858_859ins859-503_859-448,=)]" "p.[(Phe287Thrfs*32,=)]" "7i"
"0000674490" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.(Leu257Valfs*17)" "6"
"0000674491" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.(Leu257Valfs*17)" "6"
"0000674492" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.(Leu257Valfs*17)" "6"
"0000674493" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.(Leu257Valfs*17)" "6"
"0000674494" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.(Leu257Valfs*17)" "6"
"0000674495" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.(Leu257Valfs*17)" "6"
"0000674496" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.(Leu257Valfs*17)" "6"
"0000674497" "00001847" "90" "4462" "0" "4462" "0" "c.4462T>C" "r.(?)" "p.(Cys1488Arg)" "30"
"0000674498" "00001847" "90" "1822" "0" "1822" "0" "c.1822T>A" "r.(?)" "p.(Phe608Ile)" "13"
"0000674499" "00001847" "90" "5762" "0" "5763" "0" "c.5762_5763dup" "r.(?)" "p.(Ala1922Trpfs*18)" "41"
"0000674500" "00001847" "90" "2919" "-1" "3328" "1" "c.(2918+1_2919-1)_(3328+1_3329-1)del" "r.(?)" "p.(Ser974Glnfs*64)" "19i_22i"
"0000674501" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.(Leu257Valfs*17)" "6"
"0000674502" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.[(Thr1821Valfs*13,Thr1821Aspfs*60]" "38i"
"0000674503" "00001847" "90" "5914" "0" "5914" "0" "c.5914G>A" "r.(?)" "p.(Gly1972Arg)" "42"
"0000674504" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.(Leu257Valfs*17)" "6"
"0000674505" "00001847" "90" "6155" "0" "6155" "0" "c.6155del" "r.(?)" "p.(Asn2052Thrfs*9)" "45"
"0000674506" "00001847" "90" "3874" "0" "3874" "0" "c.3874C>T" "r.(?)" "p.(Gln1292*)" "27"
"0000674507" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.(Leu257Valfs*17)" "6"
"0000674508" "00001847" "90" "6428" "0" "6428" "0" "c.6428T>G" "r.(?)" "p.(Met2143Arg)" "47"
"0000674509" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl?" "p.[(=,Glu1863Leufs*33)]" ""
"0000674510" "00001847" "90" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973*)" ""
"0000674511" "00001847" "90" "1822" "0" "1822" "0" "c.1822T>A" "r.(?)" "p.(Phe608Ile)" "13"
"0000674512" "00001847" "90" "3259" "0" "3259" "0" "c.3259G>A" "r.(?)" "p.(Glu1087Lys)" "22"
"0000674513" "00001847" "90" "1938" "-1" "1938" "-1" "c.1938-1G>A" "r.spl" "p.?" "i13"
"0000674514" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>C" "r.(?)" "p.(Gly1961Glu)" "42"
"0000674515" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.(Leu257Valfs*17)" "6"
"0000674516" "00001847" "90" "4506" "0" "4506" "0" "c.4506C>A" "r.(?)" "p.(Cys1502*)" "30"
"0000674517" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.[(Thr1821Valfs*13,Thr1821Aspfs*60]" "38i"
"0000674518" "00001847" "90" "4234" "0" "4234" "0" "c.4234C>T" "r.(?)" "p.(Gln1412*)" "28"
"0000674519" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000674520" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000674521" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000674522" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000674523" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000674524" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000674525" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000674526" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000674527" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000674528" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000674529" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000674530" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000674531" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000674532" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000674533" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000674534" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000674535" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000674536" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000674537" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000674538" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000674539" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000674540" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000674541" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000674542" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000674543" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000674544" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000674545" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000674546" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000674547" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000674548" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000674549" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000674662" "00001847" "50" "5327" "0" "5327" "0" "c.5327C>T" "r.(?)" "p.(Pro1776Leu)" ""
"0000674663" "00001847" "90" "6625" "0" "6625" "0" "c.6625C>T" "r.(?)" "p.(Gln2209*)" "48"
"0000674664" "00001847" "50" "101" "0" "106" "0" "c.101_106del" "r.(?)" "p.(Ser34_Leu35del)" ""
"0000674665" "00001847" "70" "6788" "0" "6788" "0" "c.6788G>T" "r.(?)" "p.(Arg2263Leu)" ""
"0000674666" "00001847" "70" "6289" "0" "6289" "0" "c.6289C>T" "r.(?)" "p.(Pro2097Ser)" ""
"0000674667" "00001847" "70" "1229" "0" "1229" "0" "c.1229T>C" "r.(?)" "p.(Ile410Thr)" ""
"0000674668" "00001847" "70" "1522" "0" "1522" "0" "c.1522C>T" "r.(?)" "p.(Arg508Cys)" ""
"0000675956" "00001847" "50" "6178" "0" "6178" "0" "c.6178C>G" "r.(?)" "p.(Leu2060Val)" ""
"0000675957" "00001847" "30" "5928" "0" "5928" "0" "c.5928C>T" "r.(?)" "p.(Ala1976=)" ""
"0000675958" "00001847" "30" "5273" "0" "5273" "0" "c.5273A>G" "r.(?)" "p.(Glu1758Gly)" ""
"0000675959" "00001847" "50" "2757" "0" "2757" "0" "c.2757A>C" "r.(?)" "p.(Glu919Asp)" ""
"0000675960" "00001847" "30" "2472" "0" "2472" "0" "c.2472C>T" "r.(?)" "p.(Ile824=)" ""
"0000675961" "00001847" "30" "1473" "0" "1473" "0" "c.1473T>G" "r.(?)" "p.(Ala491=)" ""
"0000684439" "00001847" "70" "71" "0" "71" "0" "c.71G>A" "r.(?)" "p.(Arg24His)" ""
"0000684440" "00001847" "70" "161" "0" "161" "0" "c.161G>A" "r.(?)" "p.(Cys54Tyr)" ""
"0000684441" "00001847" "70" "286" "0" "286" "0" "c.286A>G" "r.(?)" "p.(Asn96Asp)" ""
"0000684442" "00001847" "70" "454" "0" "454" "0" "c.454C>T" "r.(?)" "p.(Arg152*)" ""
"0000684443" "00001847" "70" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" ""
"0000684444" "00001847" "70" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.?" ""
"0000684445" "00001847" "70" "1007" "0" "1007" "0" "c.1007C>G" "r.(?)" "p.(Ser336Cys)" ""
"0000684446" "00001847" "70" "1457" "0" "1457" "0" "c.1457del" "r.(?)" "p.(Pro486Leufs*82)" ""
"0000684447" "00001847" "70" "1610" "0" "1610" "0" "c.1610G>A" "r.(?)" "p.(Arg537His)" ""
"0000684448" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" ""
"0000684449" "00001847" "70" "1654" "0" "1654" "0" "c.1654G>A" "r.(?)" "p.(Val552Ile)" ""
"0000684450" "00001847" "70" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" ""
"0000684451" "00001847" "70" "1807" "0" "1807" "0" "c.1807T>C" "r.(?)" "p.(Tyr603His)" ""
"0000684452" "00001847" "70" "1819" "0" "1819" "0" "c.1819G>A" "r.(?)" "p.(Gly607Arg)" ""
"0000684453" "00001847" "70" "1928" "0" "1928" "0" "c.1928T>G" "r.(?)" "p.(Val643Gly)" ""
"0000684454" "00001847" "70" "2041" "0" "2041" "0" "c.2041C>T" "r.(?)" "p.(Arg681*)" ""
"0000684455" "00001847" "70" "2564" "0" "2564" "0" "c.2564G>A" "r.(?)" "p.(Trp855*)" ""
"0000684456" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.(Gly863Ala)" ""
"0000684457" "00001847" "70" "2701" "0" "2701" "0" "c.2701A>G" "r.(?)" "p.(Thr901Ala)" ""
"0000684458" "00001847" "70" "2915" "0" "2915" "0" "c.2915C>A" "r.(?)" "p.(Thr972Asn)" ""
"0000684459" "00001847" "70" "3027" "0" "3027" "0" "c.3027del" "r.(?)" "p.(Gln1010Serfs*21)" ""
"0000684460" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000684461" "00001847" "70" "3178" "0" "3178" "0" "c.3178C>T" "r.(?)" "p.(Gln1060*)" ""
"0000684462" "00001847" "70" "3523" "-1" "3523" "-1" "c.3523-1G>A" "r.spl" "p.?" ""
"0000684463" "00001847" "70" "3682" "0" "3682" "0" "c.3682G>A" "r.(?)" "p.(Glu1228Lys)" ""
"0000684464" "00001847" "70" "3862" "1" "3862" "1" "c.3862+1G>A" "r.spl" "p.?" ""
"0000684465" "00001847" "70" "3899" "0" "3899" "0" "c.3899G>A" "r.(?)" "p.(Arg1300Gln)" ""
"0000684466" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" ""
"0000684467" "00001847" "70" "4253" "4" "4253" "4" "c.4253+4C>T" "r.spl" "p.?" ""
"0000684468" "00001847" "70" "4462" "0" "4462" "0" "c.4462T>C" "r.(?)" "p.(Cys1488Arg)" ""
"0000684469" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" ""
"0000684470" "00001847" "70" "4537" "0" "4537" "0" "c.4537del" "r.(?)" "p.(Gln1513Argfs*13)" ""
"0000684471" "00001847" "70" "4537" "0" "4537" "0" "c.4537dup" "r.(?)" "p.(Gln1513Profs*42)" ""
"0000684472" "00001847" "70" "4667" "2" "4667" "2" "c.4667+2T>C" "r.spl" "p.?" ""
"0000684473" "00001847" "70" "4685" "0" "4685" "0" "c.4685T>C" "r.(?)" "p.(Ile1562Thr)" ""
"0000684474" "00001847" "70" "4773" "1" "4773" "1" "c.4773+1G>A" "r.spl" "p.?" ""
"0000684475" "00001847" "70" "4773" "3" "4773" "3" "c.4773+3A>G" "r.spl" "p.?" ""
"0000684476" "00001847" "70" "4919" "0" "4919" "0" "c.4919G>A" "r.(?)" "p.(Arg1640Gln)" ""
"0000684477" "00001847" "70" "5196" "1" "5196" "1" "c.5196+1G>A" "r.spl" "p.?" ""
"0000684478" "00001847" "70" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.[(Thr1821Valfs*13,Thr1821Aspfs*6)]" ""
"0000684479" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000684480" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.?" ""
"0000684481" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000684482" "00001847" "70" "5929" "0" "5929" "0" "c.5929G>A" "r.(?)" "p.(Gly1977Ser)" ""
"0000684483" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" ""
"0000684484" "00001847" "70" "6148" "0" "6148" "0" "c.6148G>C" "r.(?)" "p.(Val2050Leu)" ""
"0000684485" "00001847" "70" "6229" "0" "6229" "0" "c.6229C>T" "r.(?)" "p.(Arg2077Trp)" ""
"0000684486" "00001847" "70" "6449" "0" "6449" "0" "c.6449G>A" "r.(?)" "p.(Cys2150Tyr)" ""
"0000684614" "00001847" "70" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.[(Thr1821Valfs*13,Thr1821Aspfs*6)]" ""
"0000684650" "00001847" "70" "6658" "0" "6658" "0" "c.6658C>T" "r.(?)" "p.(Gln2220*)" ""
"0000684672" "00001847" "50" "1906" "0" "1906" "0" "c.1906C>A" "r.(?)" "p.(Gln636Lys)" ""
"0000684679" "00001847" "50" "4748" "0" "4748" "0" "c.4748T>C" "r.(?)" "p.(Leu1583Pro)" ""
"0000684684" "00001847" "70" "6146" "0" "6146" "0" "c.6146del" "r.(?)" "p.(Lys2049Argfs*12)" ""
"0000684685" "00001847" "70" "6146" "0" "6146" "0" "c.6146del" "r.(?)" "p.(Lys2049Argfs*12)" ""
"0000684686" "00001847" "70" "3420" "0" "3420" "0" "c.3420C>G" "r.(?)" "p.(Cys1140Trp)" ""
"0000684687" "00001847" "70" "3420" "0" "3420" "0" "c.3420C>G" "r.(?)" "p.(Cys1140Trp)" ""
"0000684688" "00001847" "70" "3470" "0" "3470" "0" "c.3470T>G" "r.(?)" "p.(Leu1157*)" ""
"0000684689" "00001847" "50" "4762" "0" "4762" "0" "c.4762A>T" "r.(?)" "p.(Asn1588Tyr)" ""
"0000684706" "00001847" "70" "880" "0" "880" "0" "c.880C>T" "r.(?)" "p.(Gln294*)" ""
"0000684709" "00001847" "50" "1906" "0" "1906" "0" "c.1906C>A" "r.(?)" "p.(Gln636Lys)" ""
"0000684713" "00001847" "50" "1933" "0" "1933" "0" "c.1933G>A" "r.(?)" "p.(Asp645Asn)" ""
"0000684714" "00001847" "70" "3349" "0" "3349" "0" "c.3349A>G" "r.(?)" "p.(Thr1117Ala)" ""
"0000684715" "00001847" "70" "3342" "0" "3344" "0" "c.3342_3344del" "r.(?)" "p.(Ile1114del)" ""
"0000684716" "00001847" "70" "3342" "0" "3344" "0" "c.3342_3344del" "r.(?)" "p.(Ile1114del)" ""
"0000684717" "00001847" "50" "869" "0" "869" "0" "c.869G>A" "r.(?)" "p.(Arg290Gln)" ""
"0000684718" "00001847" "70" "3470" "0" "3470" "0" "c.3470T>G" "r.(?)" "p.(Leu1157*)" ""
"0000684725" "00001847" "30" "71" "0" "71" "0" "c.71G>A" "r.(?)" "p.(Arg24His)" ""
"0000684893" "00001847" "70" "1531" "0" "1531" "0" "c.1531C>T" "r.(?)" "p.(Arg511Cys)" ""
"0000684894" "00001847" "70" "1411" "0" "1411" "0" "c.1411G>A" "r.(?)" "p.(Glu471Lys)" ""
"0000684895" "00001847" "90" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.0?" ""
"0000684896" "00001847" "90" "6563" "0" "6563" "0" "c.6563T>C" "r.(?)" "p.(Phe2188Ser)" ""
"0000684897" "00001847" "70" "6386" "0" "6386" "0" "c.6386G>A" "r.(?)" "p.(Ser2129Asn)" ""
"0000684898" "00001847" "90" "6077" "0" "6077" "0" "c.6077del" "r.(?)" "p.(Leu2026Argfs*35)" ""
"0000684899" "00001847" "70" "5929" "0" "5929" "0" "c.5929G>A" "r.(?)" "p.(Gly1977Ser)" ""
"0000684900" "00001847" "90" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973*)" ""
"0000684901" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000684902" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000684903" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000684904" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000684905" "00001847" "70" "5822" "0" "5822" "0" "c.5822A>C" "r.(?)" "p.(His1941Pro)" ""
"0000684906" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.?" ""
"0000684907" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000684908" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000684909" "00001847" "90" "5460" "1" "5460" "1" "c.5460+1G>A" "r.spl" "p.?" ""
"0000684910" "00001847" "90" "5460" "1" "5460" "1" "c.5460+1G>A" "r.spl" "p.?" ""
"0000684911" "00001847" "90" "5380" "0" "5380" "0" "c.5380G>C" "r.(?)" "p.(Ala1794Pro)" ""
"0000684912" "00001847" "90" "5351" "0" "5351" "0" "c.5351T>G" "r.(?)" "p.(Leu1784Arg)" ""
"0000684913" "00001847" "90" "5333" "0" "5336" "0" "c.5333_5336del" "r.(?)" "p.(Met1778Thrfs*51)" ""
"0000684914" "00001847" "90" "5318" "0" "5318" "0" "c.5318C>T" "r.(?)" "p.(Ala1773Val)" ""
"0000684915" "00001847" "90" "5318" "0" "5318" "0" "c.5318C>T" "r.(?)" "p.(Ala1773Val)" ""
"0000684916" "00001847" "90" "5312" "1" "5312" "1" "c.5312+1G>A" "r.spl" "p.?" ""
"0000684917" "00001847" "90" "5196" "1" "5196" "1" "c.5196+1G>A" "r.spl" "p.?" ""
"0000684918" "00001847" "90" "5189" "0" "5189" "0" "c.5189G>A" "r.(?)" "p.(Trp1730*)" ""
"0000684919" "00001847" "90" "5169" "0" "5169" "0" "c.5169C>G" "r.(?)" "p.(Tyr1723*)" ""
"0000684920" "00001847" "90" "5059" "0" "5059" "0" "c.5059del" "r.(?)" "p.(Ile1687Phefs*15)" ""
"0000684921" "00001847" "90" "4979" "0" "4979" "0" "c.4979C>T" "r.(?)" "p.(Pro1660Leu)" ""
"0000684922" "00001847" "90" "4979" "0" "4979" "0" "c.4979C>T" "r.(?)" "p.(Pro1660Leu)" ""
"0000684923" "00001847" "90" "4979" "0" "4979" "0" "c.4979C>T" "r.(?)" "p.(Pro1660Leu)" ""
"0000684924" "00001847" "90" "4919" "0" "4919" "0" "c.4919G>A" "r.(?)" "p.(Arg1640Gln)" ""
"0000684925" "00001847" "90" "4919" "0" "4919" "0" "c.4919G>A" "r.(?)" "p.(Arg1640Gln)" ""
"0000684926" "00001847" "90" "4919" "0" "4919" "0" "c.4919G>A" "r.(?)" "p.(Arg1640Gln)" ""
"0000684927" "00001847" "90" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" ""
"0000684928" "00001847" "90" "4895" "0" "4895" "0" "c.4895dup" "r.(?)" "p.(Asn1632Lysfs*14)" ""
"0000684929" "00001847" "70" "4854" "0" "4854" "0" "c.4854G>C" "r.(?)" "p.(Trp1618Cys)" ""
"0000684930" "00001847" "90" "4793" "0" "4793" "0" "c.4793C>A" "r.(?)" "p.(Ala1598Asp)" ""
"0000684931" "00001847" "90" "4793" "0" "4793" "0" "c.4793C>A" "r.(?)" "p.(Ala1598Asp)" ""
"0000684932" "00001847" "70" "4594" "0" "4594" "0" "c.4594G>A" "r.(?)" "p.(Asp1532Asn)" ""
"0000684933" "00001847" "70" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" ""
"0000684934" "00001847" "70" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" ""
"0000684935" "00001847" "90" "4537" "0" "4537" "0" "c.4537dup" "r.(?)" "p.(Gln1513Profs*42)" ""
"0000684936" "00001847" "90" "4537" "0" "4537" "0" "c.4537dup" "r.(?)" "p.(Gln1513Profs*42)" ""
"0000684937" "00001847" "90" "4457" "0" "4457" "0" "c.4457C>T" "r.(?)" "p.(Pro1486Leu)" ""
"0000684938" "00001847" "90" "4457" "0" "4457" "0" "c.4457C>T" "r.(?)" "p.(Pro1486Leu)" ""
"0000684939" "00001847" "90" "4254" "-1" "4254" "-1" "c.4254-1G>A" "r.spl" "p.?" ""
"0000684940" "00001847" "90" "4254" "-1" "4254" "-1" "c.4254-1G>A" "r.spl" "p.?" ""
"0000684941" "00001847" "90" "4254" "-15" "4254" "-15" "c.4254-15del" "r.spl" "p.?" ""
"0000684942" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" ""
"0000684943" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" ""
"0000684944" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" ""
"0000684945" "00001847" "70" "3608" "0" "3608" "0" "c.3608G>A" "r.(?)" "p.(Gly1203Glu)" ""
"0000684946" "00001847" "70" "3482" "0" "3482" "0" "c.3482G>A" "r.(?)" "p.(Arg1161His)" ""
"0000684947" "00001847" "90" "3449" "0" "3451" "0" "c.3449_3451del" "r.(?)" "p.(Cys1150del)" ""
"0000684948" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" ""
"0000684949" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" ""
"0000684950" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" ""
"0000684951" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000684952" "00001847" "70" "3056" "0" "3056" "0" "c.3056C>T" "r.(?)" "p.(Thr1019Met)" ""
"0000684953" "00001847" "90" "3050" "5" "3050" "5" "c.3050+5G>A" "r.spl" "p.?" ""
"0000684954" "00001847" "90" "3050" "5" "3050" "5" "c.3050+5G>A" "r.spl" "p.?" ""
"0000684955" "00001847" "90" "3050" "5" "3050" "5" "c.3050+5G>A" "r.spl" "p.?" ""
"0000684956" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" ""
"0000684957" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" ""
"0000684958" "00001847" "70" "2828" "0" "2828" "0" "c.2828G>A" "r.(?)" "p.(Arg943Gln)" ""
"0000684959" "00001847" "90" "2791" "0" "2791" "0" "c.2791G>A" "r.(?)" "p.(Val931Met)" ""
"0000684960" "00001847" "90" "2791" "0" "2791" "0" "c.2791G>A" "r.(?)" "p.(Val931Met)" ""
"0000684961" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.(Gly863Ala)" ""
"0000684962" "00001847" "70" "2294" "0" "2294" "0" "c.2294G>A" "r.(?)" "p.(Ser765Asn)" ""
"0000684963" "00001847" "70" "1958" "0" "1958" "0" "c.1958G>T" "r.(?)" "p.(Arg653Leu)" ""
"0000684964" "00001847" "70" "1846" "0" "1846" "0" "c.1846G>A" "r.(?)" "p.(Glu616Lys)" ""
"0000684965" "00001847" "70" "1758" "0" "1758" "0" "c.1758C>A" "r.(?)" "p.(Asp586Glu)" ""
"0000684966" "00001847" "90" "1714" "0" "1714" "0" "c.1714C>T" "r.(?)" "p.(Arg572*)" ""
"0000684967" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" ""
"0000684968" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" ""
"0000684969" "00001847" "70" "1411" "0" "1411" "0" "c.1411G>A" "r.(?)" "p.(Glu471Lys)" ""
"0000684970" "00001847" "90" "1172" "0" "1172" "0" "c.1172del" "r.(?)" "p.(Lys391Serfs*4)" ""
"0000684971" "00001847" "90" "1172" "0" "1172" "0" "c.1172del" "r.(?)" "p.(Lys391Serfs*4)" ""
"0000684972" "00001847" "90" "834" "0" "834" "0" "c.834del" "r.(?)" "p.(Asp279Ilefs*21)" ""
"0000684973" "00001847" "90" "834" "0" "834" "0" "c.834del" "r.(?)" "p.(Asp279Ilefs*21)" ""
"0000684974" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" ""
"0000684975" "00001847" "70" "455" "0" "455" "0" "c.455G>A" "r.(?)" "p.(Arg152Gln)" ""
"0000684976" "00001847" "70" "452" "0" "452" "0" "c.452T>C" "r.(?)" "p.(Ile151Thr)" ""
"0000684977" "00001847" "70" "242" "0" "242" "0" "c.242G>C" "r.(?)" "p.(Cys81Ser)" ""
"0000685578" "00001847" "70" "872" "0" "872" "0" "c.872C>T" "r.(?)" "p.(Pro291Leu)" ""
"0000685579" "00001847" "70" "5693" "0" "5693" "0" "c.5693G>A" "r.(?)" "p.(Arg1898His)" ""
"0000685580" "00001847" "90" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" ""
"0000685852" "00001847" "90" "4594" "0" "4594" "0" "c.4594G>A" "r.(?)" "p.(Asp1532Asn)" ""
"0000686507" "00001847" "70" "3287" "0" "3287" "0" "c.3287C>T" "r.(?)" "p.(Ser1096Leu)" "22"
"0000686508" "00001847" "70" "1561" "0" "1561" "0" "c.1561del" "r.(?)" "p.(Val521Serfs*47)" "12"
"0000686509" "00001847" "70" "3262" "0" "3262" "0" "c.3262C>A" "r.(?)" "p.(Pro1088Thr)" "22"
"0000686510" "00001847" "70" "101" "0" "106" "0" "c.101_106del" "r.(?)" "p.(Ser34_Leu35del)" "2"
"0000686511" "00001847" "90" "4066" "0" "4066" "0" "c.4066C>T" "r.(?)" "p.(Gln1356*)" "27"
"0000686512" "00001847" "70" "3262" "0" "3262" "0" "c.3262C>A" "r.(?)" "p.(Pro1088Thr)" "22"
"0000686513" "00001847" "50" "5584" "5" "5584" "5" "c.5584+5G>A" "r.spl?" "p.?" ""
"0000686514" "00001847" "70" "1019" "0" "1019" "0" "c.1019A>G" "r.(?)" "p.(Tyr340Cys)" "8"
"0000686516" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000686517" "00001847" "50" "1761" "-2" "1761" "-2" "c.1761-2A>G" "r.spl?" "p.?" ""
"0000686519" "00001847" "70" "2034" "0" "2034" "0" "c.2034G>T" "r.(?)" "p.(Lys678Asn)" "14"
"0000686520" "00001847" "70" "2063" "0" "2063" "0" "c.2063dup" "r.(?)" "p.(Asn688Lysfs*78)" "14"
"0000686521" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000686522" "00001847" "50" "3051" "-1" "3051" "-1" "c.3051-1G>A" "r.spl?" "p.?" ""
"0000686523" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000686524" "00001847" "70" "5327" "0" "5327" "0" "c.5327C>T" "r.(?)" "p.(Pro1776Leu)" "38"
"0000686525" "00001847" "90" "1760" "0" "1760" "0" "c.1760G>A" "r.(?)" "p.(Arg587Lys)" "12"
"0000686526" "00001847" "70" "428" "0" "428" "0" "c.428C>T" "r.(?)" "p.(Pro143Leu)" "4"
"0000686527" "00001847" "70" "1892" "0" "1892" "0" "c.1892G>T" "r.(?)" "p.(Gly631Val)" "13"
"0000686528" "00001847" "70" "1229" "0" "1229" "0" "c.1229T>C" "r.(?)" "p.(Ile410Thr)" "9"
"0000686529" "00001847" "70" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000686530" "00001847" "70" "3017" "0" "3017" "0" "c.3017G>A" "r.(?)" "p.(Gly1006Asp)" "20"
"0000686531" "00001847" "70" "5167" "0" "5167" "0" "c.5167T>C" "r.(?)" "p.(Tyr1723His)" "36"
"0000686532" "00001847" "70" "101" "0" "106" "0" "c.101_106del" "r.(?)" "p.(Ser34_Leu35del)" "2"
"0000687746" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.(Gly863Ala)" ""
"0000687747" "00001847" "90" "571" "-1" "571" "-1" "c.571-1G>T" "r.(?)" "p.(?)" ""
"0000688265" "00001847" "30" "6498" "0" "6498" "0" "c.6498C>T" "r.(?)" "p.(Ile2166=)" ""
"0000688266" "00001847" "50" "4765" "0" "4765" "0" "c.4765G>A" "r.(?)" "p.(Val1589Met)" ""
"0000688267" "00001847" "10" "4539" "1148" "4539" "1148" "c.4539+1148G>C" "r.(=)" "p.(=)" ""
"0000688268" "00001847" "50" "2971" "0" "2971" "0" "c.2971G>C" "r.(?)" "p.(Gly991Arg)" ""
"0000688269" "00001847" "90" "1957" "0" "1957" "0" "c.1957C>T" "r.(?)" "p.(Arg653Cys)" ""
"0000688270" "00001847" "50" "899" "0" "899" "0" "c.899C>A" "r.(?)" "p.(Thr300Asn)" ""
"0000697202" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.(?)" ""
"0000703771" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>A" "r.(?)" "p.(Gly863Glu)" "17"
"0000703772" "00001847" "70" "4234" "0" "4234" "0" "c.4234C>T" "r.(?)" "p.(Gln1412*)" "28"
"0000703773" "00001847" "50" "5653" "0" "5653" "0" "c.5653G>A" "r.(?)" "p.(Glu1885Lys)" "40"
"0000703774" "00001847" "50" "2588" "0" "2588" "0" "c.2588G>A" "r.(?)" "p.(Gly863Glu)" "17"
"0000704066" "00001847" "70" "53" "0" "53" "0" "c.53G>C" "r.(?)" "p.(Arg18Pro)" ""
"0000704067" "00001847" "90" "2424" "0" "2424" "0" "c.2424C>G" "r.(?)" "p.(Tyr808*)" ""
"0000704068" "00001847" "90" "769" "-1" "769" "-1" "c.769-1G>A" "r.spl" "p.?" ""
"0000704069" "00001847" "90" "1561" "0" "1561" "0" "c.1561del" "r.(?)" "p.(Val521Serfs*47)" ""
"0000704070" "00001847" "90" "2424" "0" "2424" "0" "c.2424C>G" "r.(?)" "p.(Tyr808*)" ""
"0000704071" "00001847" "70" "2870" "0" "2870" "0" "c.2870A>C" "r.(?)" "p.(Gln957Pro)" ""
"0000704072" "00001847" "70" "101" "0" "106" "0" "c.101_106del" "r.(?)" "p.(Ser34_Leu35del)" ""
"0000704073" "00001847" "90" "6118" "0" "6118" "0" "c.6118C>T" "r.(?)" "p.(Arg2040*)" ""
"0000704074" "00001847" "90" "6118" "0" "6118" "0" "c.6118C>T" "r.(?)" "p.(Arg2040*)" ""
"0000704075" "00001847" "50" "1232" "0" "1232" "0" "c.1232T>C" "r.(?)" "p.(Leu411Pro)" ""
"0000704076" "00001847" "90" "6118" "0" "6118" "0" "c.6118C>T" "r.(?)" "p.(Arg2040*)" ""
"0000704077" "00001847" "50" "1232" "0" "1232" "0" "c.1232T>C" "r.(?)" "p.(Leu411Pro)" ""
"0000704191" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000704213" "00001847" "90" "1160" "0" "1160" "0" "c.1160G>A" "r.(?)" "p.(Trp387*)" ""
"0000704214" "00001847" "90" "1819" "0" "1819" "0" "c.1819G>A" "r.(?)" "p.(Gly607Arg)" ""
"0000704215" "00001847" "90" "6088" "0" "6088" "0" "c.6088C>T" "r.(?)" "p.(Arg2030*)" ""
"0000704216" "00001847" "70" "3106" "0" "3106" "0" "c.3106G>A" "r.(?)" "p.(Glu1036Lys)" ""
"0000704217" "00001847" "90" "1561" "0" "1561" "0" "c.1561del" "r.(?)" "p.(Val521Serfs*47)" ""
"0000704218" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" ""
"0000704219" "00001847" "90" "4948" "0" "4948" "0" "c.4948G>T" "r.(?)" "p.(Glu1650*)" ""
"0000704221" "00001847" "90" "5318" "0" "5318" "0" "c.5318C>T" "r.(?)" "p.(Ala1773Val)" ""
"0000704223" "00001847" "90" "505" "0" "505" "0" "c.505A>T" "r.(?)" "p.(Lys169*)" ""
"0000704224" "00001847" "90" "885" "0" "885" "0" "c.885delC" "r.(?)" "p.(Leu296Cysfs*4)" ""
"0000704225" "00001847" "70" "101" "0" "106" "0" "c.101_106del" "r.(?)" "p.(Ser34_Leu35del)" ""
"0000704227" "00001847" "90" "1761" "-2" "1761" "-2" "c.1761-2A>G" "r.spl" "p.?" ""
"0000704228" "00001847" "90" "5460" "1" "5460" "1" "c.5460+1G>C" "r.spl" "p.?" ""
"0000704229" "00001847" "90" "2537" "0" "2537" "0" "c.2537A>T" "r.(?)" "p.(Asp846Val)" ""
"0000704230" "00001847" "50" "4748" "0" "4748" "0" "c.4748T>C" "r.(?)" "p.(Leu1583Pro)" ""
"0000704231" "00001847" "70" "2424" "0" "2424" "0" "c.2424C>G" "r.(?)" "p.(Tyr808*)" ""
"0000704232" "00001847" "90" "6282" "1" "6282" "1" "c.6282+1G>C" "r.spl" "p.?" ""
"0000704262" "00001847" "90" "1609" "0" "1609" "0" "c.1609C>T" "r.(?)" "p.(Arg537Cys)" ""
"0000704263" "00001847" "90" "5881" "0" "5881" "0" "c.5881G>A" "r.(?)" "p.(Gly1961Arg)" ""
"0000704264" "00001847" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408*)" ""
"0000704265" "00001847" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408*)" ""
"0000704266" "00001847" "90" "6480" "-1" "6480" "-1" "c.6480-1G>T" "r.spl?" "p.?" ""
"0000704267" "00001847" "70" "2908" "0" "2908" "0" "c.2908A>G" "r.(?)" "p.(Thr970Ala)" ""
"0000704268" "00001847" "50" "3547" "0" "3547" "0" "c.3547G>T" "r.(?)" "p.(Gly1183Cys)" ""
"0000704269" "00001847" "50" "3547" "0" "3547" "0" "c.3547G>T" "r.(?)" "p.(Gly1183Cys)" ""
"0000704270" "00001847" "70" "6125" "0" "6125" "0" "c.6125T>G" "r.(?)" "p.(Val2042Gly)" ""
"0000704271" "00001847" "50" "4995" "0" "4995" "0" "c.4995G>T" "r.(?)" "p.(Lys1665Asn)" ""
"0000704274" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" ""
"0000704275" "00001847" "90" "1561" "0" "1561" "0" "c.1561del" "r.(?)" "p.(Val521Serfs*47)" ""
"0000704276" "00001847" "90" "5645" "0" "5645" "0" "c.5645T>C" "r.(?)" "p.(Met1882Thr)" ""
"0000704277" "00001847" "70" "4610" "0" "4610" "0" "c.4610C>T" "r.(?)" "p.(Thr1537Met)" ""
"0000704394" "00001847" "70" "3266" "0" "3266" "0" "c.3266C>T" "r.(?)" "p.(Thr1089Ile)" ""
"0000704395" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" ""
"0000704396" "00001847" "90" "319" "0" "319" "0" "c.319C>T" "r.(?)" "p.(Arg107*)" ""
"0000704397" "00001847" "90" "2424" "0" "2424" "0" "c.2424C>G" "r.(?)" "p.(Tyr808*)" ""
"0000704398" "00001847" "50" "1294" "0" "1294" "0" "c.1294G>A" "r.(?)" "p.(Glu432Lys)" ""
"0000704400" "00001847" "50" "2473" "0" "2473" "0" "c.2473G>A" "r.(?)" "p.(Gly825Arg)" ""
"0000704401" "00001847" "90" "5898" "1" "5898" "1" "c.5898+1G>A" "r.spl?" "p.?" ""
"0000704402" "00001847" "90" "4387" "0" "4387" "0" "c.4387del" "r.(?)" "p.(Thr1463Leufs*63)" ""
"0000704403" "00001847" "90" "5196" "1" "5196" "1" "c.5196+1G>A" "r.spl?" "p.?" ""
"0000704404" "00001847" "70" "178" "0" "178" "0" "c.178G>A" "r.(?)" "p.(Ala60Thr)" ""
"0000704427" "00001847" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408*)" ""
"0000704428" "00001847" "70" "2384" "0" "2384" "0" "c.2384G>T" "r.(?)" "p.(Ser795Ile)" ""
"0000704430" "00001847" "50" "2032" "0" "2034" "0" "c.2032_2034del" "r.(?)" "p.(Lys678del)" ""
"0000704431" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" ""
"0000704432" "00001847" "70" "2827" "0" "2827" "0" "c.2827C>T" "r.(?)" "p.(Arg943Trp)" ""
"0000704433" "00001847" "50" "6498" "0" "6498" "0" "c.6498C>G" "r.(?)" "p.(Ile2166Met)" ""
"0000704434" "00001847" "90" "1561" "0" "1561" "0" "c.1561del" "r.(?)" "p.(Val521Serfs*47)" ""
"0000704435" "00001847" "90" "6006" "-1" "6006" "-1" "c.6006-1G>A" "r.spl?" "p.?" ""
"0000704436" "00001847" "90" "1714" "0" "1714" "0" "c.1714C>T" "r.(?)" "p.(Arg572*)" ""
"0000704437" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" ""
"0000704538" "00001847" "90" "1035" "0" "1035" "0" "c.1035T>G" "r.(?)" "p.(Tyr345*)" ""
"0000704539" "00001847" "90" "6282" "1" "6282" "1" "c.6282+1G>C" "r.spl?" "p.?" ""
"0000704541" "00001847" "90" "1819" "0" "1819" "0" "c.1819G>A" "r.(?)" "p.(Gly607Arg)" ""
"0000704542" "00001847" "90" "5196" "1" "5196" "1" "c.5196+1G>A" "r.spl?" "p.?" ""
"0000704543" "00001847" "90" "6816" "1" "6816" "1" "c.6816+1G>A" "r.spl?" "p.?" ""
"0000704544" "00001847" "70" "70" "0" "70" "0" "c.70C>T" "r.(?)" "p.(Arg24Cys)" ""
"0000704545" "00001847" "70" "6098" "0" "6098" "0" "c.6098T>C" "r.(?)" "p.(Leu2033Pro)" ""
"0000704555" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" ""
"0000704556" "00001847" "70" "6563" "0" "6563" "0" "c.6563T>C" "r.(?)" "p.(Phe2188Ser)" ""
"0000704559" "00001847" "70" "2948" "0" "2948" "0" "c.2948C>T" "r.(?)" "p.(Thr983Ile)" ""
"0000704560" "00001847" "90" "3364" "0" "3364" "0" "c.3364G>A" "r.(?)" "p.(Glu1122Lys)" ""
"0000704563" "00001847" "70" "2948" "0" "2948" "0" "c.2948C>T" "r.(?)" "p.(Thr983Ile)" ""
"0000704564" "00001847" "70" "6563" "0" "6563" "0" "c.6563T>C" "r.(?)" "p.(Phe2188Ser)" ""
"0000704565" "00001847" "70" "2948" "0" "2948" "0" "c.2948C>T" "r.(?)" "p.(Thr983Ile)" ""
"0000704566" "00001847" "70" "6563" "0" "6563" "0" "c.6563T>C" "r.(?)" "p.(Phe2188Ser)" ""
"0000704568" "00001847" "90" "4605" "0" "4606" "0" "c.4605_4606insT" "r.(?)" "p.(Lys1536*)" ""
"0000704569" "00001847" "70" "6289" "0" "6289" "0" "c.6289C>T" "r.(?)" "p.(Pro2097Ser)" ""
"0000704571" "00001847" "90" "4605" "0" "4606" "0" "c.4605_4606insT" "r.(?)" "p.(Lys1536*)" ""
"0000704572" "00001847" "90" "885" "0" "885" "0" "c.885del" "r.(?)" "p.(Leu296Cysfs*4)" ""
"0000704573" "00001847" "70" "6563" "0" "6563" "0" "c.6563T>C" "r.(?)" "p.(Phe2188Ser)" ""
"0000704575" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" ""
"0000706964" "00001847" "90" "1958" "0" "1958" "0" "c.1958G>A" "r.(?)" "p.(Arg653His)" ""
"0000706965" "00001847" "90" "3812" "0" "3812" "0" "c.3812del" "r.(?)" "p.(Glu1271Glyfs*4)" ""
"0000706966" "00001847" "70" "6816" "1" "6816" "1" "c.6816+1G>A" "r.spl?" "p.?" ""
"0000708317" "00001847" "90" "1561" "0" "1561" "0" "c.1561del" "r.(?)" "p.(Val521Serfs*47)" ""
"0000708318" "00001847" "90" "3871" "0" "3871" "0" "c.3871C>T" "r.(?)" "p.(Gln1291*)" ""
"0000708319" "00001847" "90" "3190" "0" "3190" "0" "c.3190G>C" "r.(?)" "p.(Gly1064Arg)" ""
"0000708320" "00001847" "90" "6282" "1" "6282" "1" "c.6282+1G>C" "r.spl?" "p.?" ""
"0000708321" "00001847" "90" "3190" "0" "3190" "0" "c.3190G>C" "r.(?)" "p.(Gly1064Arg)" ""
"0000708322" "00001847" "90" "2424" "0" "2424" "0" "c.2424C>G" "r.(?)" "p.(Tyr808*)" ""
"0000708323" "00001847" "90" "3134" "0" "3135" "0" "c.3134_3135insA" "r.(?)" "p.(Met1045Ilefs*13)" ""
"0000708324" "00001847" "90" "6088" "0" "6088" "0" "c.6088C>T" "r.(?)" "p.(Arg2030*)" ""
"0000708325" "00001847" "90" "1760" "0" "1760" "0" "c.1760G>A" "r.(?)" "p.(Arg587Lys)" ""
"0000708326" "00001847" "70" "101" "0" "106" "0" "c.101_106del" "r.(?)" "p.(Ser34_Leu35del)" ""
"0000708327" "00001847" "90" "1957" "0" "1957" "0" "c.1957C>T" "r.(?)" "p.(Arg653Cys)" ""
"0000708328" "00001847" "90" "6181" "0" "6184" "0" "c.6181_6184del" "r.(?)" "p.(Thr2061Serfs*53)" ""
"0000708329" "00001847" "70" "6563" "0" "6563" "0" "c.6563T>C" "r.(?)" "p.(Phe2188Ser)" ""
"0000708330" "00001847" "90" "1318" "0" "1318" "0" "c.1318del" "r.(?)" "p.(Tyr440Thrfs*9)" ""
"0000708331" "00001847" "90" "3056" "0" "3056" "0" "c.3056C>T" "r.(?)" "p.(Thr1019Met)" ""
"0000708332" "00001847" "70" "3194" "0" "3194" "0" "c.3194G>T" "r.(?)" "p.(Gly1065Val)" ""
"0000708333" "00001847" "70" "6389" "0" "6389" "0" "c.6389T>A" "r.(?)" "p.(Met2130Lys)" ""
"0000708334" "00001847" "70" "2282" "0" "2282" "0" "c.2282C>T" "r.(?)" "p.(Ala761Val)" ""
"0000708335" "00001847" "90" "5776" "0" "5776" "0" "c.5776C>T" "r.(?)" "p.(Gln1926*)" ""
"0000708336" "00001847" "70" "6119" "0" "6119" "0" "c.6119G>A" "r.(?)" "p.(Arg2040Gln)" ""
"0000708902" "00001847" "50" "2473" "0" "2473" "0" "c.2473G>A" "r.(?)" "p.(Gly825Arg)" "16"
"0000708903" "00001847" "50" "673" "0" "673" "0" "c.673G>A" "r.(?)" "p.(Val225Met)" "6"
"0000708904" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000708905" "00001847" "90" "2063" "0" "2063" "0" "c.2063dup" "r.(?)" "p.(Asn688Lysfs*78)" "14"
"0000708906" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000708907" "00001847" "90" "1290" "0" "1290" "0" "c.1290dup" "r.(?)" "p.(Trp431Leufs*13)" "10"
"0000708908" "00001847" "50" "4748" "0" "4748" "0" "c.4748T>C" "r.(?)" "p.(Leu1583Pro)" "33"
"0000708909" "00001847" "90" "2967" "0" "2967" "0" "c.2967dup" "r.(?)" "p.(Gly990Trpfs*6)" "20"
"0000708926" "00001847" "70" "5512" "0" "5512" "0" "c.5512C>T" "r.(?)" "p.(His1838Tyr)" "39"
"0000708927" "00001847" "90" "1761" "-2" "1761" "-2" "c.1761-2A>G" "r.spl" "p.?" "14"
"0000708928" "00001847" "90" "170" "0" "171" "0" "c.170_171insAA" "r.(?)" "p.(Asn58Thrfs*21)" "3"
"0000708929" "00001847" "50" "170" "0" "170" "0" "c.170C>G" "r.(?)" "p.(Pro57Arg)" "3"
"0000708930" "00001847" "90" "1006" "0" "1006" "0" "c.1006del" "r.(?)" "p.(Ser336Profs*38)" "8"
"0000708932" "00001847" "70" "601" "0" "618" "0" "c.601_618dup" "r.(?)" "p.(Lys201_Ser206dup)" "6"
"0000708933" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000708934" "00001847" "70" "1034" "0" "1034" "0" "c.1034A>G" "r.(?)" "p.(Tyr345Cys)" "8"
"0000708935" "00001847" "90" "1035" "0" "1035" "0" "c.1035T>G" "r.(?)" "p.(Tyr345*)" "8"
"0000708936" "00001847" "70" "1034" "0" "1034" "0" "c.1034A>C" "r.(?)" "p.(Tyr345Ser)" "8"
"0000708937" "00001847" "90" "1035" "0" "1035" "0" "c.1035T>G" "r.(?)" "p.(Tyr345*)" "8"
"0000708938" "00001847" "70" "1034" "0" "1034" "0" "c.1034A>C" "r.(?)" "p.(Tyr345Ser)" "8"
"0000708940" "00001847" "90" "6118" "0" "6118" "0" "c.6118C>T" "r.(?)" "p.(Arg2040*)" "44"
"0000708941" "00001847" "90" "101" "0" "106" "0" "c.101_106del" "r.(?)" "p.(Ser34_Leu35del)" "2"
"0000708942" "00001847" "90" "4203" "0" "4203" "0" "c.4203del" "r.(?)" "p.(Ala1402Leufs*2)" "28"
"0000708943" "00001847" "70" "203" "0" "203" "0" "c.203C>T" "r.(?)" "p.(Pro68Leu)" "3"
"0000708944" "00001847" "90" "1561" "0" "1561" "0" "c.1561del" "r.(?)" "p.(Val521Serfs*47)" "12"
"0000708945" "00001847" "70" "1760" "0" "1760" "0" "c.1760G>A" "r.(?)" "p.(Arg587Lys)" "12"
"0000708946" "00001847" "70" "5761" "0" "5761" "0" "c.5761G>T" "r.(?)" "p.(Val1921Leu)" "41"
"0000708947" "00001847" "50" "5593" "0" "5593" "0" "c.5593C>T" "r.(?)" "p.(His1865Tyr)" "40"
"0000708948" "00001847" "90" "5318" "0" "5318" "0" "c.5318C>T" "r.(?)" "p.(Ala1773Val)" "38"
"0000708949" "00001847" "70" "3106" "0" "3106" "0" "c.3106G>A" "r.(?)" "p.(Glu1036Lys)" "21"
"0000708950" "00001847" "70" "4070" "0" "4070" "0" "c.4070C>T" "r.(?)" "p.(Ala1357Val)" "27"
"0000710010" "00001847" "70" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000710011" "00001847" "70" "1648" "0" "1648" "0" "c.1648G>A" "r.(?)" "p.(Gly550Arg)" "12"
"0000710014" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000710015" "00001847" "70" "3106" "0" "3106" "0" "c.3106G>A" "r.(?)" "p.(Glu1036Lys)" "21"
"0000710163" "00001847" "50" "983" "0" "983" "0" "c.983A>T" "r.(?)" "p.(Glu328Val)" "8"
"0000710224" "00001847" "90" "6221" "0" "6221" "0" "c.6221G>T" "r.(?)" "p.(Gly2074Val)" ""
"0000710260" "00001847" "70" "3383" "0" "3383" "0" "c.3383A>G" "r.(?)" "p.(Asp1128Gly)" ""
"0000710273" "00001847" "90" "6148" "0" "6148" "0" "c.6148G>C" "r.(?)" "p.(Val2050Leu)" ""
"0000710278" "00001847" "90" "5819" "0" "5819" "0" "c.5819T>C" "r.(?)" "p.(Leu1940Pro)" ""
"0000710282" "00001847" "90" "6221" "0" "6221" "0" "c.6221G>T" "r.(?)" "p.(Gly2074Val)" ""
"0000710288" "00001847" "90" "4919" "0" "4919" "0" "c.4919G>A" "r.(?)" "p.(Arg1640Gln)" ""
"0000710292" "00001847" "90" "4919" "0" "4919" "0" "c.4919G>A" "r.(?)" "p.(Arg1640Gln)" ""
"0000710298" "00001847" "90" "1417" "0" "1420" "0" "c.1417_1420dup" "r.(?)" "p.(Thr474Asnfs*4)" ""
"0000710334" "00001847" "70" "6282" "3" "6282" "3" "c.6282+3A>T" "r.spl" "p.?" ""
"0000710347" "00001847" "90" "4804" "0" "4804" "0" "c.4804del" "r.(?)" "p.(Ile1602Tyrfs*8)" ""
"0000710352" "00001847" "90" "5324" "0" "5324" "0" "c.5324T>A" "r.(?)" "p.(Ile1775Asn)" ""
"0000710353" "00001847" "90" "5318" "0" "5318" "0" "c.5318C>T" "r.(?)" "p.(Ala1773Val)" ""
"0000710356" "00001847" "70" "4854" "0" "4854" "0" "c.4854G>C" "r.(?)" "p.(Trp1618Cys)" ""
"0000710357" "00001847" "90" "5196" "1" "5196" "1" "c.5196+1G>A" "r.spl" "p.?" ""
"0000711701" "00001847" "70" "1699" "0" "1699" "0" "c.1699G>A" "r.(?)" "p.(Val567Met)" "12"
"0000711703" "00001847" "70" "3523" "-2" "3523" "-2" "c.3523-2A>T" "r.spl?" "p.?" "23i"
"0000711705" "00001847" "70" "3602" "0" "3602" "0" "c.3602T>G" "r.(?)" "p.(Leu1201Arg)" "24"
"0000711706" "00001847" "70" "5077" "0" "5077" "0" "c.5077G>A" "r.(?)" "p.(Val1693Ile)" "36"
"0000711707" "00001847" "70" "5327" "0" "5327" "0" "c.5327C>T" "r.(?)" "p.(Pro1776Leu)" "38"
"0000712557" "00001847" "90" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" ""
"0000712558" "00001847" "90" "4539" "2028" "4539" "2028" "c.4539+2028C>T" "r.spl" "p.(Arg1514Leufs*36)" ""
"0000713250" "00001847" "90" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" ""
"0000713252" "00001847" "90" "6658" "0" "6658" "0" "c.6658C>T" "r.(?)" "p.(Gln2220*)" ""
"0000713256" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000713289" "00001847" "90" "3364" "0" "3364" "0" "c.3364G>A" "r.(?)" "p.(Glu1122Lys)" ""
"0000713298" "00001847" "90" "2915" "0" "2915" "0" "c.2915C>A" "r.(?)" "p.(Thr972Asn)" ""
"0000713310" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.?" ""
"0000713349" "00001847" "90" "2813" "0" "2813" "0" "c.2813T>C" "r.(?)" "p.(Phe938Ser)" ""
"0000713360" "00001847" "90" "6226" "0" "6226" "0" "c.6226A>G" "r.(?)" "p.(Lys2076Glu)" ""
"0000713367" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.?" ""
"0000713373" "00001847" "90" "885" "0" "885" "0" "c.885del" "r.(?)" "p.(Leu296Cysfs*4)" ""
"0000713377" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.?" ""
"0000713385" "00001847" "90" "6098" "0" "6098" "0" "c.6098T>G" "r.(?)" "p.(Leu2033Arg)" ""
"0000713387" "00001847" "90" "6088" "0" "6088" "0" "c.6088C>T" "r.(?)" "p.(Arg2030*)" ""
"0000713392" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" ""
"0000713402" "00001847" "90" "3081" "0" "3081" "0" "c.3081T>G" "r.(?)" "p.(Tyr1027*)" ""
"0000713403" "00001847" "90" "5932" "0" "5932" "0" "c.5932A>G" "r.(?)" "p.(Lys1978Glu)" ""
"0000713409" "00001847" "90" "3364" "0" "3364" "0" "c.3364G>A" "r.(?)" "p.(Glu1122Lys)" ""
"0000713417" "00001847" "90" "719" "0" "719" "0" "c.719T>G" "r.(?)" "p.(Ile240Arg)" ""
"0000713440" "00001847" "90" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" ""
"0000713446" "00001847" "90" "6148" "0" "6148" "0" "c.6148G>C" "r.(?)" "p.(Val2050Leu)" ""
"0000713451" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.?" ""
"0000713460" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.?" ""
"0000713465" "00001847" "90" "5018" "5" "5018" "5" "c.5018+5G>A" "r.spl?" "p.?" ""
"0000713472" "00001847" "90" "4363" "0" "4363" "0" "c.4363T>C" "r.(?)" "p.(Cys1455Arg)" ""
"0000713485" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.?" ""
"0000713489" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000713517" "00001847" "90" "5088" "0" "5088" "0" "c.5088C>G" "r.(?)" "p.(Ser1696Arg)" ""
"0000713518" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000713519" "00001847" "70" "1983" "0" "1984" "0" "c.1983_1984insG" "r.(?)" "p.(Ala662Glyfs*104)" ""
"0000713521" "00001847" "90" "5315" "0" "5315" "0" "c.5315G>A" "r.(?)" "p.(Trp1772*)" ""
"0000713522" "00001847" "90" "4727" "0" "4727" "0" "c.4727T>G" "r.(?)" "p.(Leu1576Arg)" ""
"0000713523" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl?" "p.?" ""
"0000713530" "00001847" "90" "3303" "0" "3303" "0" "c.3303G>A" "r.(?)" "p.(Trp1101*)" ""
"0000713531" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.?" ""
"0000713537" "00001847" "90" "6658" "0" "6658" "0" "c.6658C>T" "r.(?)" "p.(Gln2220*)" ""
"0000713538" "00001847" "90" "5463" "0" "5463" "0" "c.5463G>A" "r.(=)" "p.(=)" ""
"0000713541" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.?" ""
"0000713542" "00001847" "90" "6449" "0" "6449" "0" "c.6449G>A" "r.(?)" "p.(Cys2150Tyr)" ""
"0000713543" "00001847" "90" "4519" "0" "4519" "0" "c.4519G>A" "r.(?)" "p.(Gly1507Arg)" ""
"0000713545" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.?" ""
"0000713550" "00001847" "90" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.(=)" "p.(=)" ""
"0000713551" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.?" ""
"0000713552" "00001847" "90" "6098" "0" "6098" "0" "c.6098T>C" "r.(?)" "p.(Leu2033Pro)" ""
"0000713553" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.?" ""
"0000713559" "00001847" "90" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.(=)" "p.(=)" ""
"0000713560" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000713561" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.?" ""
"0000713562" "00001847" "70" "3064" "0" "3064" "0" "c.3064G>A" "r.(?)" "p.(Glu1022Lys)" ""
"0000713563" "00001847" "90" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.(=)" "p.(=)" ""
"0000713564" "00001847" "90" "6729" "5" "6729" "19" "c.6729+5_6729+19del" "r.spl?" "p.?" ""
"0000713565" "00001847" "70" "6445" "0" "6445" "0" "c.6445C>T" "r.(?)" "p.(Arg2149*)" ""
"0000713566" "00001847" "70" "4536" "0" "4537" "0" "c.4536_4537insC" "r.(?)" "p.(Gln1513Profs*42)" ""
"0000713568" "00001847" "90" "5161" "0" "5162" "0" "c.5161_5162del" "r.(?)" "p.(Thr1721Hisfs*65)" ""
"0000713569" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" ""
"0000713573" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" ""
"0000713576" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.?" ""
"0000713577" "00001847" "90" "6342" "0" "6342" "0" "c.6342G>A" "r.spl" "p.?" ""
"0000713580" "00001847" "70" "5018" "2" "5018" "2" "c.5018+2T>C" "r.spl?" "p.?" ""
"0000713581" "00001847" "70" "5516" "0" "5516" "0" "c.5516T>C" "r.(?)" "p.(Phe1839Ser)" ""
"0000713593" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000713595" "00001847" "90" "6329" "0" "6329" "0" "c.6329G>A" "r.(?)" "p.(Trp2110*)" ""
"0000713597" "00001847" "70" "4919" "0" "4919" "0" "c.4919G>A" "r.(?)" "p.(Arg1640Gln)" ""
"0000713598" "00001847" "70" "4538" "0" "4538" "0" "c.4538A>G" "r.(?)" "p.(Gln1513Arg)" ""
"0000713602" "00001847" "90" "2915" "0" "2915" "0" "c.2915C>A" "r.(?)" "p.(Thr972Asn)" ""
"0000713606" "00001847" "90" "2966" "0" "2966" "0" "c.2966T>C" "r.(?)" "p.(Val989Ala)" ""
"0000713607" "00001847" "90" "6449" "0" "6449" "0" "c.6449G>A" "r.(?)" "p.(Cys2150Tyr)" ""
"0000713615" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" ""
"0000713617" "00001847" "90" "6229" "0" "6229" "0" "c.6229C>T" "r.(?)" "p.(Arg2077Trp)" ""
"0000713639" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.(Gly863Ala)" ""
"0000713644" "00001847" "90" "1497" "0" "1497" "0" "c.1497G>A" "r.(?)" "p.(Trp499*)" ""
"0000713645" "00001847" "90" "6658" "0" "6658" "0" "c.6658C>T" "r.(?)" "p.(Gln2220*)" ""
"0000713672" "00001847" "90" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973*)" ""
"0000713680" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.(Gly863Ala)" ""
"0000713685" "00001847" "90" "2041" "0" "2041" "0" "c.2041C>T" "r.(?)" "p.(Arg681*)" ""
"0000713687" "00001847" "90" "1757" "0" "1757" "0" "c.1757A>G" "r.(?)" "p.(Asp586Gly)" ""
"0000713699" "00001847" "90" "1906" "0" "1906" "0" "c.1906C>T" "r.(?)" "p.(Gln636*)" ""
"0000713704" "00001847" "90" "1557" "0" "1557" "0" "c.1557C>A" "r.(?)" "p.(Cys519*)" ""
"0000713708" "00001847" "90" "3299" "0" "3299" "0" "c.3299T>A" "r.(?)" "p.(Ile1100Asn)" ""
"0000713731" "00001847" "90" "712" "0" "712" "0" "c.712C>T" "r.(?)" "p.(Gln238*)" ""
"0000713738" "00001847" "90" "3259" "0" "3259" "0" "c.3259G>T" "r.(?)" "p.(Glu1087*)" ""
"0000713743" "00001847" "90" "5381" "0" "5381" "0" "c.5381C>A" "r.(?)" "p.(Ala1794Asp)" ""
"0000713747" "00001847" "90" "4253" "5" "4253" "5" "c.4253+5G>A" "r.spl?" "p.?" ""
"0000713749" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.?" ""
"0000713751" "00001847" "90" "2560" "0" "2560" "0" "c.2560G>A" "r.(?)" "p.(Ala854Thr)" ""
"0000713758" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" ""
"0000713775" "00001847" "90" "2560" "0" "2560" "0" "c.2560G>A" "r.(?)" "p.(Ala854Thr)" ""
"0000713778" "00001847" "90" "4771" "0" "4771" "0" "c.4771G>A" "r.(?)" "p.(Gly1591Arg)" ""
"0000713787" "00001847" "90" "4685" "0" "4685" "0" "c.4685T>C" "r.(?)" "p.(Ile1562Thr)" ""
"0000713793" "00001847" "90" "4536" "0" "4537" "0" "c.4536_4537insC" "r.(?)" "p.(Gln1513Profs*42)" ""
"0000713796" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" ""
"0000713804" "00001847" "90" "1938" "-1" "1938" "-1" "c.1938-1G>A" "r.spl?" "p.?" ""
"0000713817" "00001847" "90" "223" "0" "223" "0" "c.223T>G" "r.(?)" "p.(Cys75Gly)" ""
"0000713818" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" ""
"0000713820" "00001847" "90" "1018" "0" "1018" "0" "c.1018T>C" "r.(?)" "p.(Tyr340His)" ""
"0000713821" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.(?)" ""
"0000713822" "00001847" "90" "3210" "0" "3211" "0" "c.3210_3211insGT" "r.(?)" "p.(Ser1071Valfs*14)" ""
"0000713825" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.(Gly863Ala)" ""
"0000713832" "00001847" "90" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" ""
"0000713833" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.?" ""
"0000713834" "00001847" "90" "4253" "5" "4253" "5" "c.4253+5G>T" "r.spl?" "p.?" ""
"0000713836" "00001847" "90" "4319" "0" "4319" "0" "c.4319T>C" "r.(?)" "p.(Phe1440Ser)" ""
"0000713837" "00001847" "90" "4129" "-1" "4129" "-1" "c.4129-1G>A" "r.spl?" "p.?" ""
"0000713838" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.(Gly863Ala)" ""
"0000713841" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" ""
"0000713842" "00001847" "90" "4537" "0" "4537" "0" "c.4537del" "r.(?)" "p.(Gln1513Argfs*13)" ""
"0000713843" "00001847" "70" "2918" "1060" "2918" "1060" "c.2918+1060G>T" "r.(=)" "p.(=)" ""
"0000713845" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" ""
"0000713846" "00001847" "70" "3899" "0" "3899" "0" "c.3899G>A" "r.(?)" "p.(Arg1300Gln)" ""
"0000713847" "00001847" "70" "2971" "0" "2971" "0" "c.2971G>C" "r.(?)" "p.(Gly991Arg)" ""
"0000713850" "00001847" "90" "1335" "0" "1335" "0" "c.1335C>G" "r.(?)" "p.(Ser445Arg)" ""
"0000713854" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.?" ""
"0000713856" "00001847" "70" "4363" "0" "4363" "0" "c.4363T>C" "r.(?)" "p.(Cys1455Arg)" ""
"0000713857" "00001847" "70" "466" "0" "466" "0" "c.466A>G" "r.(?)" "p.(Ile156Val)" ""
"0000713860" "00001847" "90" "2023" "0" "2023" "0" "c.2023G>A" "r.(?)" "p.(Val675Ile)" ""
"0000713861" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000713862" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" ""
"0000713864" "00001847" "90" "1557" "0" "1557" "0" "c.1557C>A" "r.(?)" "p.(Cys519*)" ""
"0000713866" "00001847" "90" "1819" "0" "1819" "0" "c.1819G>A" "r.(?)" "p.(Gly607Arg)" ""
"0000713867" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000713872" "00001847" "90" "1609" "0" "1609" "0" "c.1609C>T" "r.(?)" "p.(Arg537Cys)" ""
"0000713873" "00001847" "90" "926" "0" "926" "0" "c.926C>G" "r.(?)" "p.(Pro309Arg)" ""
"0000713874" "00001847" "90" "6088" "0" "6088" "0" "c.6088C>T" "r.(?)" "p.(Arg2030*)" ""
"0000713883" "00001847" "90" "1532" "0" "1532" "0" "c.1532G>A" "r.(?)" "p.(Arg511His)" ""
"0000713907" "00001847" "90" "658" "0" "658" "0" "c.658C>T" "r.(?)" "p.(Arg220Cys)" ""
"0000714027" "00001847" "70" "1253" "0" "1253" "0" "c.1253T>C" "r.(?)" "p.(Phe418Ser)" ""
"0000714028" "00001847" "70" "4588" "0" "4588" "0" "c.4588A>T" "r.(?)" "p.(Ile1530Phe)" ""
"0000714034" "00001847" "70" "2438" "0" "2438" "0" "c.2438A>C" "r.(?)" "p.(Glu813Ala)" ""
"0000714035" "00001847" "70" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl?" "p.?" ""
"0000714036" "00001847" "70" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973*)" ""
"0000714037" "00001847" "70" "6658" "0" "6658" "0" "c.6658C>T" "r.(?)" "p.(Gln2220*)" ""
"0000714038" "00001847" "70" "2063" "0" "2063" "0" "c.2063dup" "r.(?)" "p.(Asn688Lysfs*78)" ""
"0000714058" "00001847" "70" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973*)" ""
"0000714085" "00001847" "50" "4297" "0" "4297" "0" "c.4297G>A" "r.(?)" "p.(Val1433Ile)" ""
"0000714086" "00001847" "50" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl?" "p.?" ""
"0000714087" "00001847" "50" "6148" "0" "6148" "0" "c.6148G>C" "r.(?)" "p.(Val2050Leu)" ""
"0000714088" "00001847" "50" "2701" "0" "2701" "0" "c.2701A>G" "r.(?)" "p.(Thr901Ala)" ""
"0000714089" "00001847" "50" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" ""
"0000714094" "00001847" "70" "4773" "1" "4773" "1" "c.4773+1G>T" "r.spl" "p.?" ""
"0000714095" "00001847" "70" "6709" "0" "6709" "0" "c.6709dup" "r.(?)" "p.(Thr2237Asnfs*14)" ""
"0000714096" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.(Gly863Ala)" ""
"0000714097" "00001847" "70" "5761" "0" "5761" "0" "c.5761G>A" "r.(?)" "p.(Val1921Met)" ""
"0000717735" "00001847" "90" "6386" "2" "6386" "2" "c.6386+2C>G" "r.spl?" "p.?" ""
"0000717736" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(=)" "p.(=)" ""
"0000717737" "00001847" "50" "5059" "0" "5059" "0" "c.5059A>T" "r.(?)" "p.(Ile1687Phe)" ""
"0000717738" "00001847" "50" "5044" "0" "5058" "0" "c.5044_5058del" "r.(?)" "p.(Val1682_Val1686del)" ""
"0000717739" "00001847" "50" "4926" "0" "4926" "0" "c.4926C>G" "r.(?)" "p.(Ser1642Arg)" ""
"0000717740" "00001847" "90" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" ""
"0000717741" "00001847" "30" "4444" "0" "4444" "0" "c.4444G>A" "r.(?)" "p.(Val1482Ile)" ""
"0000717742" "00001847" "70" "4326" "0" "4326" "0" "c.4326C>A" "r.(?)" "p.(Asn1442Lys)" ""
"0000717743" "00001847" "50" "3962" "0" "3962" "0" "c.3962C>T" "r.(?)" "p.(Ser1321Phe)" ""
"0000717744" "00001847" "50" "3626" "0" "3626" "0" "c.3626T>C" "r.(?)" "p.(Met1209Thr)" ""
"0000717745" "00001847" "90" "3583" "0" "3584" "0" "c.3583_3584insGT" "r.(?)" "p.(Leu1195Argfs*2)" ""
"0000717746" "00001847" "50" "2966" "0" "2966" "0" "c.2966T>C" "r.(?)" "p.(Val989Ala)" ""
"0000717747" "00001847" "90" "2269" "0" "2273" "0" "c.2269_2273del" "r.(?)" "p.(Lys757Glnfs*7)" ""
"0000717748" "00001847" "50" "2156" "0" "2156" "0" "c.2156T>C" "r.(?)" "p.(Ile719Thr)" ""
"0000717749" "00001847" "30" "1932" "0" "1932" "0" "c.1932C>T" "r.(?)" "p.(Asp644=)" ""
"0000717750" "00001847" "70" "1531" "0" "1531" "0" "c.1531C>T" "r.(?)" "p.(Arg511Cys)" ""
"0000717751" "00001847" "30" "1005" "0" "1005" "0" "c.1005C>G" "r.(?)" "p.(Leu335=)" ""
"0000717752" "00001847" "50" "926" "0" "926" "0" "c.926C>G" "r.(?)" "p.(Pro309Arg)" ""
"0000717753" "00001847" "50" "769" "-3" "769" "-3" "c.769-3C>T" "r.spl?" "p.?" ""
"0000717754" "00001847" "90" "286" "0" "286" "0" "c.286A>G" "r.(?)" "p.(Asn96Asp)" ""
"0000717755" "00001847" "70" "286" "0" "286" "0" "c.286A>G" "r.(?)" "p.(Asn96Asp)" ""
"0000729365" "00001847" "50" "4685" "0" "4685" "0" "c.4685T>C" "r.(?)" "p.(Ile1562Thr)" ""
"0000729795" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000730506" "00001847" "90" "4234" "0" "4234" "0" "c.4234C>T" "r.(?)" "p.(Gln1412*)" "28"
"0000730507" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000730508" "00001847" "90" "5512" "0" "5512" "0" "c.5512C>G" "r.(?)" "p.(His1838Asp)" "39"
"0000730509" "00001847" "90" "6746" "0" "6746" "0" "c.6746C>A" "r.(?)" "p.(Ala2249Asp)" "49"
"0000730510" "00001847" "90" "1822" "0" "1822" "0" "c.1822T>A" "r.(?)" "p.(Phe608Ile)" ""
"0000730511" "00001847" "90" "1253" "0" "1253" "0" "c.1253T>C" "r.(?)" "p.(Phe418Ser)" "10"
"0000730512" "00001847" "90" "52" "0" "52" "0" "c.52C>T" "r.(?)" "p.(Arg18Trp)" "1"
"0000730513" "00001847" "90" "5509" "0" "5509" "0" "c.5509C>A" "r.(?)" "p.(Pro1837Thr)" "39"
"0000730514" "00001847" "30" "1654" "0" "1654" "0" "c.1654G>A" "r.(?)" "p.(Val552Ile)" "12"
"0000730515" "00001847" "90" "1309" "0" "1309" "0" "c.1309del" "r.(?)" "p.(Gln437Argfs*12)" "10"
"0000730516" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000730517" "00001847" "90" "206" "0" "206" "0" "c.206G>A" "r.(?)" "p.(Trp69*)" "3"
"0000730518" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000730519" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.?" "6"
"0000730520" "00001847" "90" "1830" "0" "1830" "0" "c.1830T>A" "r.(?)" "p.(Tyr610*)" "13"
"0000730521" "00001847" "90" "2401" "0" "2401" "0" "c.2401G>A" "r.(?)" "p.(Ala801Thr)" "16"
"0000730522" "00001847" "90" "4462" "0" "4462" "0" "c.4462T>C" "r.(?)" "p.(Cys1488Arg)" "30"
"0000730523" "00001847" "90" "45" "0" "45" "0" "c.45G>A" "r.(?)" "p.(Trp15*)" "1"
"0000730524" "00001847" "90" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" "35"
"0000730525" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000730526" "00001847" "90" "4462" "0" "4462" "0" "c.4462T>C" "r.(?)" "p.(Cys1488Arg)" "30"
"0000730527" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000730528" "00001847" "90" "3272" "0" "3272" "0" "c.3272G>A" "r.(?)" "p.(Gly1091Glu)" "22"
"0000730529" "00001847" "90" "4195" "0" "4195" "0" "c.4195G>A" "r.(?)" "p.(Glu1399Lys)" "28"
"0000730530" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000730531" "00001847" "90" "2401" "0" "2401" "0" "c.2401G>A" "r.(?)" "p.(Ala801Thr)" "16"
"0000730532" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.(Gly863Ala)" "17"
"0000730533" "00001847" "90" "5512" "0" "5512" "0" "c.5512C>G" "r.(?)" "p.(His1838Asp)" "39"
"0000730534" "00001847" "90" "194" "0" "194" "0" "c.194G>A" "r.(?)" "p.(Gly65Glu)" "3"
"0000730535" "00001847" "90" "1411" "0" "1411" "0" "c.1411G>C" "r.(?)" "p.(Glu471Gln)" "11"
"0000730536" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000730537" "00001847" "90" "4234" "0" "4234" "0" "c.4234C>T" "r.(?)" "p.(Gln1412*)" "28"
"0000730538" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.?" "40i"
"0000730539" "00001847" "90" "4537" "0" "4537" "0" "c.4537dup" "r.(?)" "p.(Gln1513Profs*42)" "30"
"0000730540" "00001847" "90" "4195" "0" "4195" "0" "c.4195G>A" "r.(?)" "p.(Glu1399Lys)" "28"
"0000730541" "00001847" "90" "5189" "0" "5189" "0" "c.5189G>A" "r.(?)" "p.(Trp1730*)" "36"
"0000730542" "00001847" "90" "4347" "0" "4347" "0" "c.4347G>T" "r.(?)" "p.(Trp1449Cys)" "29"
"0000730543" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000730544" "00001847" "90" "5172" "0" "5172" "0" "c.5172G>A" "r.(?)" "p.(Trp1724*)" "36"
"0000730545" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000730546" "00001847" "30" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000730547" "00001847" "90" "3468" "0" "3468" "0" "c.3468C>G" "r.(?)" "p.(Tyr1156*)" "23"
"0000730548" "00001847" "90" "3098" "0" "3098" "0" "c.3098del" "r.(?)" "p.(Lys1033Serfs*51)" "21"
"0000730549" "00001847" "90" "3212" "0" "3212" "0" "c.3212C>T" "r.(?)" "p.(Ser1071Leu)" "22"
"0000730550" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000730551" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.?" "6"
"0000730552" "00001847" "90" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" "44"
"0000730553" "00001847" "30" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000730554" "00001847" "90" "3871" "0" "3871" "0" "c.3871C>T" "r.(?)" "p.(Gln1291*)" "27"
"0000730555" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000730556" "00001847" "90" "2919" "-1" "3328" "1" "c.(2918+1_2919-1)_(3328+1_3329-1)del" "r.?" "p.?" "19i_22i"
"0000730557" "00001847" "90" "1822" "0" "1822" "0" "c.1822T>A" "r.(?)" "p.(Phe608Ile)" "13"
"0000730558" "00001847" "90" "2948" "0" "2948" "0" "c.2948C>T" "r.(?)" "p.(Thr983Ile)" "20"
"0000730559" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000730560" "00001847" "90" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" "44"
"0000730561" "00001847" "90" "1807" "0" "1807" "0" "c.1807T>C" "r.(?)" "p.(Tyr603His)" "13"
"0000730562" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.?" "40i"
"0000730563" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000730564" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000730565" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.?" "38i"
"0000730566" "00001847" "30" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000730567" "00001847" "90" "6112" "0" "6112" "0" "c.6112C>T" "r.(?)" "p.(Arg2038Trp)" "44"
"0000730568" "00001847" "90" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071Cysfs*14)" "22"
"0000730569" "00001847" "90" "4234" "0" "4234" "0" "c.4234C>T" "r.(?)" "p.(Gln1412*)" "28"
"0000730570" "00001847" "90" "741" "0" "744" "0" "c.741_744del" "r.(?)" "p.(Asn247Lysfs*14)" "6"
"0000730571" "00001847" "90" "1792" "0" "1792" "0" "c.1792G>A" "r.(?)" "p.(Val598Met)" "13"
"0000730572" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.?" "40i"
"0000730573" "00001847" "30" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000730574" "00001847" "90" "2041" "0" "2041" "0" "c.2041C>T" "r.(?)" "p.(Arg681*)" "14"
"0000730575" "00001847" "30" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000730576" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.?" "38i"
"0000730577" "00001847" "30" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000730578" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.?" "6"
"0000730579" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000730580" "00001847" "90" "470" "0" "470" "0" "c.470T>A" "r.(?)" "p.(Leu157*)" "5"
"0000730581" "00001847" "90" "2549" "0" "2549" "0" "c.2549A>G" "r.(?)" "p.(Tyr850Cys)" "16"
"0000730582" "00001847" "90" "4468" "0" "4468" "0" "c.4468T>C" "r.(?)" "p.(Cys1490Arg)" "30"
"0000730583" "00001847" "90" "4854" "0" "4854" "0" "c.4854G>T" "r.(?)" "p.(Trp1618Cys)" "35"
"0000730584" "00001847" "90" "872" "0" "872" "0" "c.872C>T" "r.(?)" "p.(Pro291Leu)" "8"
"0000730585" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.(Gly863Ala)" "17"
"0000730586" "00001847" "90" "2626" "0" "2626" "0" "c.2626C>T" "r.(?)" "p.(Gln876*)" "17"
"0000730587" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.(Gly863Ala)" "17"
"0000730588" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.?" "6"
"0000730589" "00001847" "90" "5196" "2" "5196" "2" "c.5196+2T>C" "r.spl" "p.?" "36i"
"0000730590" "00001847" "90" "214" "0" "214" "0" "c.214G>A" "r.(?)" "p.(Gly72Arg)" "3"
"0000730591" "00001847" "90" "2255" "0" "2255" "0" "c.2255G>A" "r.(?)" "p.(Ser752Asn)" "15"
"0000730592" "00001847" "90" "3871" "0" "3871" "0" "c.3871C>T" "r.(?)" "p.(Gln1291*)" "27"
"0000730593" "00001847" "90" "872" "0" "872" "0" "c.872C>T" "r.(?)" "p.(Pro291Leu)" "8"
"0000730594" "00001847" "90" "6215" "0" "6215" "0" "c.6215G>A" "r.(?)" "p.(Ser2072Asn)" "45"
"0000730595" "00001847" "90" "6215" "0" "6215" "0" "c.6215G>A" "r.(?)" "p.(Ser2072Asn)" "45"
"0000730596" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000730597" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000730598" "00001847" "90" "4773" "3" "4773" "3" "c.4773+3A>G" "r.spl" "p.?" "33i"
"0000730599" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000730697" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000730698" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000730699" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000730700" "00001847" "30" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000730701" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.(Gly863Ala)" "17"
"0000730702" "00001847" "90" "1715" "0" "1715" "0" "c.1715G>A" "r.(?)" "p.(Arg572Gln)" "12"
"0000730703" "00001847" "90" "5549" "0" "5549" "0" "c.5549T>C" "r.(?)" "p.(Leu1850Pro)" "39"
"0000730704" "00001847" "30" "4771" "0" "4771" "0" "c.4771G>A" "r.(?)" "p.(Gly1591Arg)" "33"
"0000730705" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000730706" "00001847" "90" "4234" "0" "4234" "0" "c.4234C>T" "r.(?)" "p.(Gln1412*)" "28"
"0000730707" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000730708" "00001847" "90" "4873" "0" "4873" "0" "c.4873C>T" "r.(?)" "p.(His1625Tyr)" "35"
"0000730709" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000730710" "00001847" "90" "656" "0" "656" "0" "c.656G>C" "r.(?)" "p.(Arg219Thr)" "6"
"0000730711" "00001847" "90" "4234" "0" "4234" "0" "c.4234C>T" "r.(?)" "p.(Gln1412*)" "28"
"0000730712" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000730713" "00001847" "90" "5693" "0" "5693" "0" "c.5693G>A" "r.(?)" "p.(Arg1898His)" "40"
"0000730714" "00001847" "90" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973*)" "43"
"0000730715" "00001847" "90" "4297" "0" "4297" "0" "c.4297G>A" "r.(?)" "p.(Val1433Ile)" "29"
"0000730716" "00001847" "30" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000730717" "00001847" "90" "5929" "0" "5929" "0" "c.5929G>A" "r.(?)" "p.(Gly1977Ser)" "43"
"0000730718" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000730719" "00001847" "90" "45" "0" "45" "0" "c.45G>A" "r.(?)" "p.(Trp15*)" "1"
"0000730720" "00001847" "30" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000730721" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000730722" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.(Gly863Ala)" "17"
"0000730723" "00001847" "90" "1903" "0" "1903" "0" "c.1903C>T" "r.(?)" "p.(Gln635*)" "13"
"0000730724" "00001847" "90" "2300" "0" "2300" "0" "c.2300T>A" "r.(?)" "p.(Val767Asp)" "15"
"0000730725" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.?" "38i"
"0000730726" "00001847" "90" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973*)" "43"
"0000730727" "00001847" "30" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000730728" "00001847" "90" "5929" "0" "5929" "0" "c.5929G>A" "r.(?)" "p.(Gly1977Ser)" "43"
"0000730729" "00001847" "30" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000730730" "00001847" "90" "1555" "-1" "1937" "1" "c.(1554+1_1555-1)_(1937+1_1938-1)del" "r.?" "p.?" "11i_13i"
"0000730731" "00001847" "90" "1584" "0" "1584" "0" "c.1584C>A" "r.(?)" "p.(Tyr528*)" "12"
"0000730732" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000730733" "00001847" "90" "1937" "1" "1937" "1" "c.1937+1G>A" "r.(?)" "p.?" "8i"
"0000730734" "00001847" "90" "5059" "0" "5059" "0" "c.5059A>T" "r.(?)" "p.(Ile1687Phe)" "36"
"0000730735" "00001847" "90" "3243" "0" "3243" "0" "c.3243G>T" "r.(?)" "p.(Lys1081Asn)" "22"
"0000730736" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000730737" "00001847" "90" "5196" "2" "5196" "2" "c.5196+2T>C" "r.spl" "p.?" "36i"
"0000730738" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000730739" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000730740" "00001847" "90" "6419" "0" "6419" "0" "c.6419T>G" "r.(?)" "p.(Leu2140Arg)" "47"
"0000730741" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000730742" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000730743" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.(Gly863Ala)" "17"
"0000730744" "00001847" "30" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000730745" "00001847" "30" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000730746" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000730747" "00001847" "90" "6545" "0" "6580" "0" "c.6545_6580del" "r.(?)" "p.(Leu2182_Phe2193del)" "48"
"0000730748" "00001847" "90" "4462" "0" "4462" "0" "c.4462T>C" "r.(?)" "p.(Cys1488Arg)" "30"
"0000730749" "00001847" "90" "3261" "0" "3261" "0" "c.3261A>C" "r.(?)" "p.(Glu1087Asp)" "22"
"0000730750" "00001847" "30" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000730751" "00001847" "90" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973*)" "43"
"0000730752" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.(Gly863Ala)" "17"
"0000730753" "00001847" "90" "872" "0" "872" "0" "c.872C>T" "r.(?)" "p.(Pro291Leu)" "8"
"0000730754" "00001847" "90" "1523" "0" "1523" "0" "c.1523G>C" "r.(?)" "p.(Arg508Pro)" "11"
"0000730755" "00001847" "30" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000730756" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000730757" "00001847" "30" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000730758" "00001847" "30" "4771" "0" "4771" "0" "c.4771G>A" "r.(?)" "p.(Gly1591Arg)" "33"
"0000730759" "00001847" "90" "4463" "0" "4463" "0" "c.4463G>A" "r.(?)" "p.(Cys1488Tyr)" "30"
"0000730760" "00001847" "30" "6148" "0" "6148" "0" "c.6148G>C" "r.(?)" "p.(Val2050Leu)" "45"
"0000730761" "00001847" "90" "5381" "0" "5381" "0" "c.5381C>A" "r.(?)" "p.(Ala1794Asp)" "38"
"0000730762" "00001847" "90" "6229" "0" "6229" "0" "c.6229C>T" "r.(?)" "p.(Arg2077Trp)" "45"
"0000730763" "00001847" "30" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000730764" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000730765" "00001847" "90" "1268" "0" "1268" "0" "c.1268A>G" "r.(?)" "p.(His423Arg)" "9"
"0000730766" "00001847" "90" "6729" "5" "6729" "19" "c.6729+5_6729+19del" "r.spl" "p.?" "48i"
"0000730767" "00001847" "30" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000730768" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000730769" "00001847" "30" "4685" "0" "4685" "0" "c.4685T>C" "r.(?)" "p.(Ile1562Thr)" "33"
"0000730770" "00001847" "30" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000730771" "00001847" "90" "1531" "0" "1531" "0" "c.1531C>T" "r.(?)" "p.(Arg511Cys)" "11"
"0000730772" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.?" "38i"
"0000730773" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000730774" "00001847" "30" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000730775" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.(Gly863Ala)" "17"
"0000730776" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000730777" "00001847" "30" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000730778" "00001847" "90" "5645" "0" "5645" "0" "c.5645T>C" "r.(?)" "p.(Met1882Thr)" "40"
"0000730779" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000730780" "00001847" "90" "1928" "0" "1928" "0" "c.1928T>G" "r.(?)" "p.(Val643Gly)" "13"
"0000730781" "00001847" "30" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000730782" "00001847" "30" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000730783" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000730784" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000730785" "00001847" "90" "6118" "0" "6118" "0" "c.6118C>T" "r.(?)" "p.(Arg2040*)" "44"
"0000730786" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000730798" "00001847" "50" "4773" "48" "4773" "48" "c.4773+48C>T" "r.(?)" "p.(=)" "33i"
"0000730799" "00001847" "30" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000730800" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>A" "r.(?)" "p.(Gly863Glu)" "17"
"0000730801" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000730802" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.(Gly863Ala)" "17"
"0000730803" "00001847" "90" "6326" "0" "6326" "0" "c.6326T>C" "r.(?)" "p.(Leu2109Pro)" "46"
"0000730804" "00001847" "90" "1761" "-1" "1937" "1" "c.(1760+1_1761-1)_(1937+1_1938-1)del" "r.?" "p.?" "12i_13i"
"0000730805" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000730806" "00001847" "90" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000730807" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.(Gly863Ala)" "17"
"0000730808" "00001847" "90" "1009" "0" "1009" "0" "c.1009T>C" "r.(?)" "p.(Phe337Leu)" "8"
"0000730809" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000730810" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000730811" "00001847" "90" "1761" "-1" "1937" "1" "c.(1760+1_1761-1)_(1937+1_1938-1)del" "r.?" "p.?" "12i_13i_"
"0000730812" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.?" "40i"
"0000730813" "00001847" "90" "1891" "0" "1891" "0" "c.1891G>A" "r.(?)" "p.(Gly631Arg)" "13"
"0000730814" "00001847" "30" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000730815" "00001847" "90" "6310" "0" "6310" "0" "c.6310dup" "r.(?)" "p.(Gln2104Profs*31)" "46"
"0000730816" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000730817" "00001847" "90" "4234" "0" "4234" "0" "c.4234C>T" "r.(?)" "p.(Gln1412*)" "28"
"0000730818" "00001847" "30" "6148" "0" "6148" "0" "c.6148G>C" "r.(?)" "p.(Val2050Leu)" "45"
"0000730819" "00001847" "90" "454" "0" "454" "0" "c.454C>T" "r.(?)" "p.(Arg152*)" "5"
"0000730821" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000730822" "00001847" "30" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000730823" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.?" "38i"
"0000730824" "00001847" "90" "4458" "0" "4458" "0" "c.4458del" "r.(?)" "p.(Ser1487Profs*39)" "30"
"0000730825" "00001847" "90" "3482" "0" "3482" "0" "c.3482G>A" "r.(?)" "p.(Arg1161His)" "23"
"0000730826" "00001847" "30" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000730827" "00001847" "90" "694" "0" "694" "0" "c.694C>T" "r.(?)" "p.(Leu232Phe)" "6"
"0000730828" "00001847" "90" "3085" "0" "3085" "0" "c.3085C>T" "r.(?)" "p.(Gln1029*)" "21"
"0000730829" "00001847" "30" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000730830" "00001847" "90" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.spl" "p.?" "36i"
"0000730831" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000730832" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000730833" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.(Gly863Ala)" "17"
"0000730834" "00001847" "90" "5682" "0" "5682" "0" "c.5682G>C" "r.(?)" "p.(Leu1894=)" "40"
"0000730835" "00001847" "90" "2828" "0" "2828" "0" "c.2828G>A" "r.(?)" "p.(Arg943Gln)" "19"
"0000730836" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000730837" "00001847" "30" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000730838" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000730839" "00001847" "30" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000730840" "00001847" "30" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000730841" "00001847" "30" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000730842" "00001847" "30" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000730975" "00001847" "70" "6119" "0" "6119" "0" "c.6119G>A" "r.(?)" "p.(Arg2040Gln)" ""
"0000730976" "00001847" "70" "4363" "0" "4363" "0" "c.4363T>C" "r.(?)" "p.(Cys1455Arg)" ""
"0000730977" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.(Gly863Ala)" ""
"0000730978" "00001847" "70" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973*)" ""
"0000730979" "00001847" "70" "1749" "0" "1749" "0" "c.1749G>C" "r.(?)" "p.(Lys583Asn)" ""
"0000731018" "00001847" "50" "2828" "0" "2828" "0" "c.2828G>A" "r.(?)" "p.(Arg943Gln)" ""
"0000731021" "00001847" "30" "2828" "0" "2828" "0" "c.2828G>A" "r.(?)" "p.(Arg943Gln)" ""
"0000731026" "00001847" "70" "2879" "0" "2879" "0" "c.2879del" "r.(?)" "p.(Ala960Aspfs*17)" ""
"0000731027" "00001847" "70" "4666" "0" "4666" "0" "c.4666del" "r.(?)" "p.(Arg1556Glyfs*25)" ""
"0000731029" "00001847" "70" "3984" "0" "3987" "0" "c.3984_3987del" "r.(?)" "p.(His1328Glnfs*60)" ""
"0000731030" "00001847" "70" "4594" "0" "4594" "0" "c.4594G>A" "r.(?)" "p.(Asp1532Asn)" ""
"0000731062" "00001847" "50" "2828" "0" "2828" "0" "c.2828G>A" "r.(?)" "p.(Arg943Gln)" ""
"0000731076" "00001847" "50" "3602" "0" "3602" "0" "c.3602T>G" "r.(?)" "p.(Leu1201Arg)" ""
"0000731087" "00001847" "50" "1140" "0" "1140" "0" "c.1140T>A" "r.(?)" "p.(Asn380Lys)" ""
"0000731131" "00001847" "30" "5693" "0" "5693" "0" "c.5693G>A" "r.(?)" "p.(Arg1898His)" ""
"0000731151" "00001847" "90" "4926" "0" "4926" "0" "c.4926C>G" "r.(?)" "p.(Ser1642Arg)" ""
"0000731153" "00001847" "90" "6088" "0" "6088" "0" "c.6088C>T" "r.(?)" "p.(Arg2030*)" ""
"0000731157" "00001847" "90" "4328" "0" "4328" "0" "c.4328G>A" "r.(?)" "p.(Arg1443His)" ""
"0000731158" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" ""
"0000731159" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" ""
"0000731173" "00001847" "90" "5044" "0" "5058" "0" "c.5044_5058del" "r.(?)" "p.(Val1682_Val1686del)" ""
"0000731175" "00001847" "90" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071Cysfs*14)" ""
"0000731177" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" ""
"0000731178" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" ""
"0000731179" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" ""
"0000731481" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" ""
"0000731482" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" ""
"0000731498" "00001847" "50" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" ""
"0000731499" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000731502" "00001847" "90" "4685" "0" "4685" "0" "c.4685T>C" "r.(?)" "p.(Ile1562Thr)" ""
"0000731512" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000731513" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000731518" "00001847" "50" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000731524" "00001847" "70" "1610" "0" "1610" "0" "c.1610G>A" "r.(?)" "p.(Arg537His)" ""
"0000732365" "00001847" "70" "688" "0" "688" "0" "c.688T>A" "r.(?)" "p.(Cys230Ser)" "6"
"0000732366" "00001847" "90" "885" "0" "885" "0" "c.885del" "r.(?)" "p.(Leu296Cysfs*4)" "8"
"0000732367" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000732368" "00001847" "70" "1957" "0" "1957" "0" "c.1957C>T" "r.(?)" "p.(Arg653Cys)" "14"
"0000732369" "00001847" "70" "5113" "0" "5113" "0" "c.5113C>T" "r.(?)" "p.(Arg1705Trp)" "36"
"0000732370" "00001847" "70" "6230" "0" "6230" "0" "c.6230G>A" "r.(?)" "p.(Arg2077Gln)" "45"
"0000732371" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000732372" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000732373" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000732374" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000732375" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000732376" "00001847" "90" "1873" "0" "1873" "0" "c.1873C>T" "r.(?)" "p.(Gln625*)" "13"
"0000732377" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000732378" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000732379" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000732380" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000732381" "00001847" "90" "6221" "0" "6221" "0" "c.6221G>T" "r.(?)" "p.(Gly2074Val)" "45"
"0000732382" "00001847" "90" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000732383" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000732384" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000732385" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000732386" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000732387" "00001847" "90" "3377" "0" "3377" "0" "c.3377T>A" "r.(?)" "p.(Leu1126His)" "23"
"0000732388" "00001847" "90" "3377" "0" "3377" "0" "c.3377T>A" "r.(?)" "p.(Leu1126His)" "23"
"0000732389" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000732394" "00001847" "90" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" "35"
"0000732395" "00001847" "90" "5413" "0" "5413" "0" "c.5413A>G" "r.(?)" "p.(Asn1805Asp)" "38"
"0000732396" "00001847" "90" "4540" "-1" "4540" "-1" "c.4540-1G>A" "r.spl" "p.?" "31"
"0000732397" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000732398" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000732399" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000732400" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000732401" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.(Gly863Ala)" "17"
"0000732402" "00001847" "90" "2828" "0" "2828" "0" "c.2828G>A" "r.(?)" "p.(Arg943Gln)" "19"
"0000732403" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000732404" "00001847" "90" "769" "-1" "769" "-1" "c.769-1G>T" "r.spl" "p.?" "6"
"0000732405" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000732406" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000732407" "00001847" "90" "1211" "0" "1211" "0" "c.1211C>G" "r.(?)" "p.(Ser404*)" "9"
"0000732408" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000732409" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000732410" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000732411" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000732412" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000732413" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000732414" "00001847" "90" "4634" "1" "4634" "1" "c.4634+1del" "r.spl" "p.?" "31i"
"0000732415" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000732416" "00001847" "90" "4634" "1" "4634" "1" "c.4634+1del" "r.spl" "p.?" "31i"
"0000732417" "00001847" "90" "1903" "0" "1903" "0" "c.1903C>A" "r.(?)" "p.(Gln635Lys)" "13"
"0000732418" "00001847" "90" "2626" "0" "2626" "0" "c.2626C>T" "r.(?)" "p.(Gln876*)" "17"
"0000732419" "00001847" "90" "2626" "0" "2626" "0" "c.2626C>T" "r.(?)" "p.(Gln876*)" "17"
"0000732420" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000732421" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5C>T" "r.spl" "p.?" "40i"
"0000732427" "00001847" "90" "6306" "0" "6306" "0" "c.6306C>A" "r.(?)" "p.(Asp2102Glu)" ""
"0000732451" "00001847" "50" "3759" "0" "3759" "0" "c.3759G>A" "r.(?)" "p.(Thr1253=)" ""
"0000732459" "00001847" "50" "1029" "0" "1029" "0" "c.1029T>C" "r.(?)" "p.(Asn343=)" ""
"0000732552" "00001847" "50" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" ""
"0000732583" "00001847" "50" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.?" ""
"0000732584" "00001847" "50" "4685" "0" "4685" "0" "c.4685T>C" "r.(?)" "p.(Ile1562Thr)" ""
"0000732623" "00001847" "90" "1610" "0" "1610" "0" "c.1610G>A" "r.(?)" "p.(Arg537His)" ""
"0000732626" "00001847" "90" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" ""
"0000732672" "00001847" "70" "4253" "5" "4253" "5" "c.4253+5G>A" "r.[(del,=)]" "p.?" ""
"0000732673" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[(del,=)]" "p.?" ""
"0000732679" "00001847" "70" "5836" "-3" "5836" "-3" "c.5836-3C>A" "r.[(=,5835_5836ins[5836-30_5836-4;aag])]" "p.?" ""
"0000732698" "00001847" "70" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" ""
"0000732706" "00001847" "70" "4670" "0" "4670" "0" "c.4670A>G" "r.(?)" "p.(Tyr1557Cys)" ""
"0000732707" "00001847" "70" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.(Val256=)" ""
"0000732714" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000732715" "00001847" "70" "5877" "0" "5877" "0" "c.5877T>A" "r.(?)" "p.(Cys1959*)" "42"
"0000732716" "00001847" "70" "2919" "0" "2919" "0" "c.2919del" "r.(?)" "p.(Leu973Phefs*4)" "20"
"0000732717" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl?" "p.?" "40i"
"0000732718" "00001847" "70" "161" "-1" "161" "-1" "c.161-1G>T" "r.spl?" "p.?" "2i"
"0000732719" "00001847" "70" "6419" "0" "6419" "0" "c.6419T>A" "r.(?)" "p.(Leu2140Gln)" "47"
"0000732721" "00001847" "70" "3617" "0" "3617" "0" "c.3617del" "r.(?)" "p.(Asn1206Metfs*3)" "25"
"0000732722" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl?" "p.?" "40i"
"0000732723" "00001847" "70" "5318" "0" "5318" "0" "c.5318del" "r.(?)" "p.(Ala1773Glyfs*5)" "38"
"0000732724" "00001847" "70" "3617" "0" "3617" "0" "c.3617del" "r.(?)" "p.(Asn1206Metfs*3)" "25"
"0000732725" "00001847" "50" "1698" "0" "1698" "0" "c.1698C>A" "r.(?)" "p.(His566Gln)" "12"
"0000732726" "00001847" "70" "1905" "0" "1905" "0" "c.1905G>T" "r.(?)" "p.(Gln635His)" "13"
"0000732727" "00001847" "70" "3261" "0" "3261" "0" "c.3261A>C" "r.(?)" "p.(Glu1087Asp)" "22"
"0000732728" "00001847" "70" "3994" "0" "3994" "0" "c.3994C>T" "r.(?)" "p.(Gln1332*)" "27"
"0000732729" "00001847" "70" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" "31"
"0000732730" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl?" "p.?" "40i"
"0000732731" "00001847" "70" "3056" "0" "3056" "0" "c.3056C>T" "r.(?)" "p.(Thr1019Met)" "21"
"0000732732" "00001847" "70" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071Cysfs*14)" "22"
"0000732733" "00001847" "70" "2933" "0" "2933" "0" "c.2933G>A" "r.(?)" "p.(Gly978Asp)" "20"
"0000732734" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000732735" "00001847" "70" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" "44"
"0000732736" "00001847" "70" "4352" "1" "4352" "1" "c.4352+1G>A" "r.spl?" "p.?" "29i"
"0000732890" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000732891" "00001847" "70" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.?" ""
"0000732892" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" ""
"0000732893" "00001847" "70" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.?" ""
"0000732894" "00001847" "70" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" ""
"0000732895" "00001847" "70" "2041" "0" "2041" "0" "c.2041C>T" "r.(?)" "p.(Arg681*)" ""
"0000732896" "00001847" "70" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" ""
"0000732897" "00001847" "70" "2300" "0" "2300" "0" "c.2300T>A" "r.(?)" "p.(Val767Asp)" ""
"0000732898" "00001847" "70" "2300" "0" "2300" "0" "c.2300T>A" "r.(?)" "p.(Val767Asp)" ""
"0000732899" "00001847" "70" "5312" "1" "5312" "1" "c.5312+1G>A" "r.spl" "p.?" ""
"0000732900" "00001847" "70" "6319" "0" "6319" "0" "c.6319C>T" "r.(?)" "p.(Arg2107Cys)" ""
"0000732901" "00001847" "70" "1957" "0" "1957" "0" "c.1957C>T" "r.(?)" "p.(Arg653Cys)" ""
"0000732902" "00001847" "70" "4326" "0" "4326" "0" "c.4326C>A" "r.(?)" "p.(Asn1442Lys)" ""
"0000732903" "00001847" "70" "4594" "0" "4594" "0" "c.4594G>A" "r.(?)" "p.(Asp1532Asn)" ""
"0000732904" "00001847" "70" "1903" "0" "1903" "0" "c.1903C>T" "r.(?)" "p.(Gln635*)" ""
"0000732905" "00001847" "70" "1253" "0" "1253" "0" "c.1253T>C" "r.(?)" "p.(Phe418Ser)" ""
"0000732906" "00001847" "70" "3428" "0" "3428" "0" "c.3428C>A" "r.(?)" "p.(Thr1143Asn)" ""
"0000732907" "00001847" "70" "4228" "0" "4231" "0" "c.4228_4231dup" "r.(?)" "p.(Gly1411Valfs*12)" ""
"0000732908" "00001847" "70" "5175" "0" "5175" "0" "c.5175dup" "r.(?)" "p.(Thr1726Aspfs*61)" ""
"0000732909" "00001847" "70" "1654" "0" "1654" "0" "c.1654G>A" "r.(?)" "p.(Val552Ile)" ""
"0000732935" "00001847" "70" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.?" ""
"0000732936" "00001847" "70" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" ""
"0000732937" "00001847" "70" "1344" "0" "1344" "0" "c.1344del" "r.(?)" "p.(Met448Ilefs*3)" ""
"0000733023" "00001847" "50" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" ""
"0000733349" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000733350" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000733351" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000733352" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000733353" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000733354" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000733355" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000733356" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000733357" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000733358" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000733359" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000733360" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000733361" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000733362" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000733363" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000733364" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000733365" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000733366" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000733367" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000733368" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000733369" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000733370" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000733371" "00001847" "70" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.?" ""
"0000733372" "00001847" "70" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.?" ""
"0000733373" "00001847" "70" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.?" ""
"0000733374" "00001847" "70" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.?" ""
"0000733375" "00001847" "70" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.?" ""
"0000733376" "00001847" "70" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.?" ""
"0000733377" "00001847" "70" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.?" ""
"0000733378" "00001847" "70" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.?" ""
"0000733379" "00001847" "70" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.?" ""
"0000733380" "00001847" "70" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.?" ""
"0000733381" "00001847" "70" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.?" ""
"0000733382" "00001847" "70" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.?" ""
"0000733383" "00001847" "70" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.?" ""
"0000733384" "00001847" "70" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.?" ""
"0000733385" "00001847" "70" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.?" ""
"0000733386" "00001847" "70" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.?" ""
"0000733387" "00001847" "70" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.?" ""
"0000733388" "00001847" "70" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.?" ""
"0000733389" "00001847" "70" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.?" ""
"0000733390" "00001847" "70" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.?" ""
"0000733391" "00001847" "70" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.?" ""
"0000733392" "00001847" "70" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.?" ""
"0000733393" "00001847" "70" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.?" ""
"0000733394" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000733395" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000733396" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000733397" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000733398" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000733399" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000733400" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000733401" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000733402" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000733403" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000733404" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000733405" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000733406" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000733407" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000733408" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000733409" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000733410" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000733411" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000733412" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000733413" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.(Gly863Ala)" ""
"0000733414" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.(Gly863Ala)" ""
"0000733415" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.(Gly863Ala)" ""
"0000733416" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.(Gly863Ala)" ""
"0000733417" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.(Gly863Ala)" ""
"0000733418" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.(Gly863Ala)" ""
"0000733419" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.(Gly863Ala)" ""
"0000733420" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.(Gly863Ala)" ""
"0000733421" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.(Gly863Ala)" ""
"0000733422" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.(Gly863Ala)" ""
"0000733423" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.(Gly863Ala)" ""
"0000733424" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.(Gly863Ala)" ""
"0000733425" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.(Gly863Ala)" ""
"0000733426" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.(Gly863Ala)" ""
"0000733427" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.(Gly863Ala)" ""
"0000733428" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.(Gly863Ala)" ""
"0000733429" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" ""
"0000733430" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" ""
"0000733431" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" ""
"0000733432" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" ""
"0000733433" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" ""
"0000733434" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" ""
"0000733435" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" ""
"0000733436" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" ""
"0000733437" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" ""
"0000733438" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.?" ""
"0000733439" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.?" ""
"0000733440" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.?" ""
"0000733441" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.?" ""
"0000733442" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.?" ""
"0000733443" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.?" ""
"0000733444" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.?" ""
"0000733445" "00001847" "70" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.(Val256=)" ""
"0000733446" "00001847" "70" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.(Val256=)" ""
"0000733447" "00001847" "70" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.(Val256=)" ""
"0000733448" "00001847" "70" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.(Val256=)" ""
"0000733449" "00001847" "70" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.(Val256=)" ""
"0000733450" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" ""
"0000733451" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" ""
"0000733452" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" ""
"0000733453" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" ""
"0000733454" "00001847" "70" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" ""
"0000733455" "00001847" "70" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" ""
"0000733456" "00001847" "70" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" ""
"0000733457" "00001847" "70" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" ""
"0000733458" "00001847" "70" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" ""
"0000733459" "00001847" "70" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" ""
"0000733460" "00001847" "70" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" ""
"0000733461" "00001847" "70" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" ""
"0000733462" "00001847" "70" "4539" "1321" "4539" "1321" "c.4539+1321A>G" "r.spl" "p.?" ""
"0000733463" "00001847" "70" "2041" "0" "2041" "0" "c.2041C>T" "r.(?)" "p.(Arg681*)" ""
"0000733464" "00001847" "70" "2041" "0" "2041" "0" "c.2041C>T" "r.(?)" "p.(Arg681*)" ""
"0000733465" "00001847" "70" "2041" "0" "2041" "0" "c.2041C>T" "r.(?)" "p.(Arg681*)" ""
"0000733466" "00001847" "70" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" ""
"0000733467" "00001847" "70" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.spl" "p.?" ""
"0000733468" "00001847" "70" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.spl" "p.?" ""
"0000733469" "00001847" "70" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.spl" "p.?" ""
"0000733470" "00001847" "70" "2300" "0" "2300" "0" "c.2300T>A" "r.(?)" "p.(Val767Asp)" ""
"0000733471" "00001847" "70" "5693" "0" "5693" "0" "c.5693G>A" "r.(?)" "p.(Arg1898His)" ""
"0000733472" "00001847" "70" "5693" "0" "5693" "0" "c.5693G>A" "r.(?)" "p.(Arg1898His)" ""
"0000733473" "00001847" "70" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" ""
"0000733474" "00001847" "70" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" ""
"0000733475" "00001847" "70" "5312" "1" "5312" "1" "c.5312+1G>A" "r.spl" "p.?" ""
"0000733476" "00001847" "70" "1015" "0" "1015" "0" "c.1015T>G" "r.(?)" "p.(Trp339Gly)" ""
"0000733477" "00001847" "70" "1015" "0" "1015" "0" "c.1015T>G" "r.(?)" "p.(Trp339Gly)" ""
"0000733478" "00001847" "70" "4124" "0" "4124" "0" "c.4124C>A" "r.(?)" "p.(Ala1375Glu)" ""
"0000733479" "00001847" "70" "179" "0" "179" "0" "c.179C>T" "r.(?)" "p.(Ala60Val)" ""
"0000733480" "00001847" "70" "3292" "0" "3292" "0" "c.3292C>T" "r.(?)" "p.(Arg1098Cys)" ""
"0000733481" "00001847" "70" "5459" "0" "5459" "0" "c.5459G>C" "r.(?)" "p.(Arg1820Pro)" ""
"0000733482" "00001847" "70" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" ""
"0000733483" "00001847" "70" "1957" "0" "1957" "0" "c.1957C>T" "r.(?)" "p.(Arg653Cys)" ""
"0000733484" "00001847" "70" "6310" "0" "6310" "0" "c.6310del" "r.(?)" "p.(Gln2104Argfs*11)" ""
"0000733485" "00001847" "70" "6545" "0" "6580" "0" "c.6545_6580del" "r.(?)" "p.(Leu2182_Phe2193del)" ""
"0000733486" "00001847" "70" "1933" "0" "1933" "0" "c.1933G>A" "r.(?)" "p.(Asp645Asn)" ""
"0000733487" "00001847" "70" "4538" "0" "4538" "0" "c.4538A>G" "r.(?)" "p.(Gln1513Arg)" ""
"0000733488" "00001847" "70" "3259" "0" "3259" "0" "c.3259G>A" "r.(?)" "p.(Glu1087Lys)" ""
"0000733489" "00001847" "70" "4676" "0" "4676" "0" "c.4676G>A" "r.(?)" "p.(Gly1559Glu)" ""
"0000733490" "00001847" "70" "2383" "-1" "2383" "-1" "c.2383-1G>A" "r.spl" "p.?" ""
"0000733491" "00001847" "70" "6229" "0" "6229" "0" "c.6229C>T" "r.(?)" "p.(Arg2077Trp)" ""
"0000733492" "00001847" "70" "2265" "0" "2265" "0" "c.2265C>G" "r.(?)" "p.(Phe755Leu)" ""
"0000733493" "00001847" "70" "4457" "0" "4457" "0" "c.4457C>T" "r.(?)" "p.(Pro1486Leu)" ""
"0000733494" "00001847" "70" "3287" "0" "3287" "0" "c.3287C>T" "r.(?)" "p.(Ser1096Leu)" ""
"0000733504" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000733505" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000733506" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000733507" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000733727" "00001847" "70" "1822" "0" "1822" "0" "c.1822T>A" "r.(?)" "p.(Phe608Ile)" ""
"0000733728" "00001847" "70" "1822" "0" "1822" "0" "c.1822T>A" "r.(?)" "p.(Phe608Ile)" ""
"0000733729" "00001847" "70" "2041" "0" "2041" "0" "c.2041C>T" "r.(?)" "p.(Arg681*)" ""
"0000733730" "00001847" "70" "5554" "0" "5554" "0" "c.5554C>T" "r.(?)" "p.(Gln1852*)" ""
"0000733731" "00001847" "70" "194" "0" "194" "0" "c.194G>A" "r.(?)" "p.(Gly65Glu)" ""
"0000733732" "00001847" "70" "5196" "1056" "5196" "1056" "c.5196+1056A>G" "r.spl" "p.?" ""
"0000733733" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.?" ""
"0000733734" "00001847" "70" "872" "0" "872" "0" "c.872C>T" "r.(?)" "p.(Pro291Leu)" ""
"0000733735" "00001847" "70" "1015" "0" "1015" "0" "c.1015T>G" "r.(?)" "p.(Trp339Gly)" ""
"0000733736" "00001847" "70" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" ""
"0000733737" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.(Gly863Ala)" ""
"0000733738" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" ""
"0000733739" "00001847" "70" "6445" "0" "6445" "0" "c.6445C>T" "r.(?)" "p.(Arg2149*)" ""
"0000733740" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000733741" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.(Gly863Ala)" ""
"0000733742" "00001847" "70" "4225" "0" "4225" "0" "c.4225A>G" "r.(?)" "p.(Ile1409Val)" ""
"0000733743" "00001847" "70" "67" "-1" "67" "-1" "c.67-1G>C" "r.spl" "p.?" ""
"0000733744" "00001847" "70" "4539" "1321" "4539" "1321" "c.4539+1321A>G" "r.spl" "p.?" ""
"0000733745" "00001847" "70" "4773" "3" "4773" "3" "c.4773+3A>G" "r.spl" "p.?" ""
"0000733746" "00001847" "70" "5196" "1216" "5196" "1216" "c.5196+1216C>A" "r.spl" "p.?" ""
"0000733747" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.?" ""
"0000733748" "00001847" "70" "5065" "0" "5065" "0" "c.5065T>C" "r.(?)" "p.(Ser1689Pro)" ""
"0000733749" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000733750" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000733751" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.(Gly863Ala)" ""
"0000733752" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.(Gly863Ala)" ""
"0000733753" "00001847" "70" "4539" "1321" "4539" "1321" "c.4539+1321A>G" "r.spl" "p.?" ""
"0000733754" "00001847" "70" "4539" "1321" "4539" "1321" "c.4539+1321A>G" "r.spl" "p.?" ""
"0000733755" "00001847" "70" "4539" "2028" "4539" "2028" "c.4539+2028C>T" "r.spl" "p.?" ""
"0000733756" "00001847" "70" "4539" "2028" "4539" "2028" "c.4539+2028C>T" "r.spl" "p.?" ""
"0000733757" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" ""
"0000733758" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" ""
"0000733759" "00001847" "70" "191" "0" "191" "0" "c.191C>T" "r.(?)" "p.(Ala64Val)" ""
"0000733760" "00001847" "70" "3289" "0" "3289" "0" "c.3289A>T" "r.(?)" "p.(Arg1097*)" ""
"0000733761" "00001847" "70" "3323" "0" "3323" "0" "c.3323G>A" "r.(?)" "p.(Arg1108His)" ""
"0000733762" "00001847" "70" "6229" "0" "6229" "0" "c.6229C>T" "r.(?)" "p.(Arg2077Trp)" ""
"0000733763" "00001847" "70" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" ""
"0000733764" "00001847" "70" "1522" "0" "1522" "0" "c.1522C>T" "r.(?)" "p.(Arg508Cys)" ""
"0000733765" "00001847" "70" "4462" "0" "4462" "0" "c.4462T>C" "r.(?)" "p.(Cys1488Arg)" ""
"0000733766" "00001847" "70" "3259" "0" "3259" "0" "c.3259G>A" "r.(?)" "p.(Glu1087Lys)" ""
"0000733767" "00001847" "70" "2932" "0" "2932" "0" "c.2932G>A" "r.(?)" "p.(Gly978Ser)" ""
"0000733768" "00001847" "70" "4539" "2001" "4539" "2001" "c.4539+2001G>A" "r.spl" "p.?" ""
"0000733769" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" ""
"0000733770" "00001847" "70" "2915" "0" "2915" "0" "c.2915C>A" "r.(?)" "p.(Thr972Asn)" ""
"0000733771" "00001847" "70" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973*)" ""
"0000733772" "00001847" "70" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973*)" ""
"0000733773" "00001847" "70" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973*)" ""
"0000733774" "00001847" "70" "3364" "0" "3364" "0" "c.3364G>A" "r.(?)" "p.(Glu1122Lys)" ""
"0000733775" "00001847" "70" "3364" "0" "3364" "0" "c.3364G>A" "r.(?)" "p.(Glu1122Lys)" ""
"0000733776" "00001847" "70" "4326" "0" "4326" "0" "c.4326C>A" "r.(?)" "p.(Asn1442Lys)" ""
"0000733777" "00001847" "70" "4838" "0" "4838" "0" "c.4838del" "r.(?)" "p.(Asp1613Alafs*49)" ""
"0000733778" "00001847" "70" "4363" "0" "4363" "0" "c.4363T>C" "r.(?)" "p.(Cys1455Arg)" ""
"0000733779" "00001847" "70" "6449" "0" "6449" "0" "c.6449G>A" "r.(?)" "p.(Cys2150Tyr)" ""
"0000733780" "00001847" "70" "2999" "0" "3328" "610" "c.2999_3328+610del" "r.?" "p.?" ""
"0000733781" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.(Gly863Ala)" ""
"0000733782" "00001847" "70" "161" "-1" "161" "-1" "c.161-1G>A" "r.spl" "p.?" ""
"0000733783" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" ""
"0000733784" "00001847" "70" "4532" "0" "4532" "0" "c.4532C>G" "r.(?)" "p.(Pro1511Arg)" ""
"0000733785" "00001847" "70" "4222" "0" "4222" "0" "c.4222T>C" "r.(?)" "p.(Trp1408Arg)" ""
"0000733786" "00001847" "70" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.(Val256=)" ""
"0000733787" "00001847" "70" "4069" "0" "4069" "0" "c.4069G>A" "r.(?)" "p.(Ala1357Thr)" ""
"0000733788" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" ""
"0000733789" "00001847" "70" "4793" "0" "4793" "0" "c.4793C>A" "r.(?)" "p.(Ala1598Asp)" ""
"0000733790" "00001847" "70" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" ""
"0000733791" "00001847" "70" "6229" "0" "6229" "0" "c.6229C>T" "r.(?)" "p.(Arg2077Trp)" ""
"0000733792" "00001847" "70" "6416" "0" "6416" "0" "c.6416G>C" "r.(?)" "p.(Arg2139Pro)" ""
"0000733793" "00001847" "70" "4326" "0" "4326" "0" "c.4326C>A" "r.(?)" "p.(Asn1442Lys)" ""
"0000733794" "00001847" "70" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" ""
"0000733795" "00001847" "70" "614" "0" "614" "0" "c.614G>T" "r.(?)" "p.(Cys205Phe)" ""
"0000733796" "00001847" "70" "6449" "0" "6449" "0" "c.6449G>A" "r.(?)" "p.(Cys2150Tyr)" ""
"0000733797" "00001847" "70" "1906" "0" "1906" "0" "c.1906C>T" "r.(?)" "p.(Gln636*)" ""
"0000733798" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.?" ""
"0000733799" "00001847" "70" "950" "0" "950" "0" "c.950del" "r.(?)" "p.(Gly317Alafs*57)" ""
"0000733800" "00001847" "70" "1007" "0" "1007" "0" "c.1007C>G" "r.(?)" "p.(Ser336Cys)" ""
"0000733801" "00001847" "70" "1317" "0" "1317" "0" "c.1317G>A" "r.(?)" "p.(Trp439*)" ""
"0000733802" "00001847" "70" "1644" "0" "1644" "0" "c.1644G>A" "r.(?)" "p.(Trp548*)" ""
"0000733803" "00001847" "70" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.(Val256=)" ""
"0000733804" "00001847" "70" "464" "0" "464" "0" "c.464A>T" "r.(?)" "p.(Asp155Val)" ""
"0000733805" "00001847" "70" "3323" "0" "3323" "0" "c.3323G>A" "r.(?)" "p.(Arg1108His)" ""
"0000733806" "00001847" "70" "3191" "-2" "3191" "-2" "c.3191-2A>G" "r.spl" "p.?" ""
"0000733807" "00001847" "70" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.spl" "p.?" ""
"0000733808" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.?" ""
"0000733809" "00001847" "70" "5898" "1" "5898" "1" "c.5898+1G>A" "r.spl" "p.?" ""
"0000733810" "00001847" "70" "2531" "0" "2531" "0" "c.2531T>G" "r.(?)" "p.(Leu844Arg)" ""
"0000733811" "00001847" "70" "5951" "0" "5951" "0" "c.5951T>G" "r.(?)" "p.(Met1984Arg)" ""
"0000733812" "00001847" "70" "1253" "0" "1253" "0" "c.1253T>C" "r.(?)" "p.(Phe418Ser)" ""
"0000733813" "00001847" "70" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.(Val256=)" ""
"0000733814" "00001847" "70" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" ""
"0000733815" "00001847" "70" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" ""
"0000733816" "00001847" "70" "6229" "0" "6229" "0" "c.6229C>T" "r.(?)" "p.(Arg2077Trp)" ""
"0000733817" "00001847" "70" "1957" "0" "1957" "0" "c.1957C>T" "r.(?)" "p.(Arg653Cys)" ""
"0000733818" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" ""
"0000733819" "00001847" "70" "1822" "0" "1822" "0" "c.1822T>A" "r.(?)" "p.(Phe608Ile)" ""
"0000733820" "00001847" "70" "5377" "0" "5377" "0" "c.5377G>A" "r.(?)" "p.(Val1793Met)" ""
"0000733821" "00001847" "70" "1648" "0" "1648" "0" "c.1648G>A" "r.(?)" "p.(Gly550Arg)" ""
"0000733822" "00001847" "70" "3352" "0" "3352" "0" "c.3352C>G" "r.(?)" "p.(His1118Asp)" ""
"0000733823" "00001847" "70" "4539" "2028" "4539" "2028" "c.4539+2028C>T" "r.spl" "p.?" ""
"0000733824" "00001847" "70" "5549" "0" "5549" "0" "c.5549T>C" "r.(?)" "p.(Leu1850Pro)" ""
"0000733825" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" ""
"0000733826" "00001847" "70" "2273" "0" "2273" "0" "c.2273C>T" "r.(?)" "p.(Ala758Val)" ""
"0000733827" "00001847" "70" "3323" "0" "3323" "0" "c.3323G>A" "r.(?)" "p.(Arg1108His)" ""
"0000733828" "00001847" "70" "1957" "0" "1957" "0" "c.1957C>T" "r.(?)" "p.(Arg653Cys)" ""
"0000733829" "00001847" "70" "4539" "1321" "4539" "1321" "c.4539+1321A>G" "r.spl" "p.?" ""
"0000733830" "00001847" "70" "161" "0" "161" "0" "c.161G>A" "r.(?)" "p.(Cys54Tyr)" ""
"0000733831" "00001847" "70" "1025" "0" "1038" "0" "c.1025_1038del" "r.(?)" "p.(Asp342Glyfs*6)" ""
"0000733832" "00001847" "70" "3602" "0" "3602" "0" "c.3602T>G" "r.(?)" "p.(Leu1201Arg)" ""
"0000733833" "00001847" "70" "6229" "0" "6229" "0" "c.6229C>T" "r.(?)" "p.(Arg2077Trp)" ""
"0000733834" "00001847" "70" "6449" "0" "6449" "0" "c.6449G>A" "r.(?)" "p.(Cys2150Tyr)" ""
"0000733835" "00001847" "70" "303" "-3" "303" "-3" "c.303-3C>G" "r.spl" "p.?" ""
"0000733836" "00001847" "70" "4539" "1321" "4539" "1321" "c.4539+1321A>G" "r.spl" "p.?" ""
"0000733837" "00001847" "70" "3602" "0" "3602" "0" "c.3602T>G" "r.(?)" "p.(Leu1201Arg)" ""
"0000733838" "00001847" "70" "1819" "0" "1819" "0" "c.1819G>A" "r.(?)" "p.(Gly607Arg)" ""
"0000733839" "00001847" "70" "5578" "0" "5578" "0" "c.5578C>T" "r.(?)" "p.(Arg1860Trp)" ""
"0000733840" "00001847" "70" "70" "0" "70" "0" "c.70C>T" "r.(?)" "p.(Arg24Cys)" ""
"0000733841" "00001847" "70" "4234" "0" "4234" "0" "c.4234C>T" "r.(?)" "p.(Gln1412*)" ""
"0000733842" "00001847" "70" "872" "0" "872" "0" "c.872C>T" "r.(?)" "p.(Pro291Leu)" ""
"0000733843" "00001847" "70" "1025" "0" "1038" "0" "c.1025_1038del" "r.(?)" "p.(Asp342Glyfs*6)" ""
"0000733844" "00001847" "70" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" ""
"0000733845" "00001847" "70" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" ""
"0000733846" "00001847" "70" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" ""
"0000733847" "00001847" "70" "746" "0" "746" "0" "c.746A>G" "r.(?)" "p.(Asp249Gly)" ""
"0000733848" "00001847" "70" "6166" "0" "6166" "0" "c.6166A>T" "r.(?)" "p.(Lys2056*)" ""
"0000733849" "00001847" "70" "1913" "0" "1913" "0" "c.1913C>T" "r.(?)" "p.(Pro638Leu)" ""
"0000733850" "00001847" "70" "1317" "0" "1317" "0" "c.1317G>A" "r.(?)" "p.(Trp439*)" ""
"0000733851" "00001847" "70" "1239" "1" "1239" "1" "c.1239+1G>A" "r.spl" "p.?" ""
"0000733852" "00001847" "70" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" ""
"0000733853" "00001847" "70" "5338" "0" "5338" "0" "c.5338C>G" "r.(?)" "p.(Pro1780Ala)" ""
"0000733854" "00001847" "70" "4848" "1" "4848" "1" "c.4848+1G>T" "r.spl" "p.?" ""
"0000733855" "00001847" "70" "4462" "0" "4462" "0" "c.4462T>C" "r.(?)" "p.(Cys1488Arg)" ""
"0000733856" "00001847" "70" "3335" "0" "3335" "0" "c.3335C>A" "r.(?)" "p.(Thr1112Asn)" ""
"0000733857" "00001847" "70" "5657" "0" "5657" "0" "c.5657G>A" "r.(?)" "p.(Gly1886Glu)" ""
"0000733858" "00001847" "70" "4539" "2001" "4539" "2001" "c.4539+2001G>A" "r.spl" "p.?" ""
"0000733859" "00001847" "70" "1967" "0" "1967" "0" "c.1967C>T" "r.(?)" "p.(Pro656Leu)" ""
"0000733860" "00001847" "70" "2401" "0" "2401" "0" "c.2401G>A" "r.(?)" "p.(Ala801Thr)" ""
"0000733861" "00001847" "70" "1411" "0" "1411" "0" "c.1411G>A" "r.(?)" "p.(Glu471Lys)" ""
"0000733862" "00001847" "70" "1988" "0" "1988" "0" "c.1988G>A" "r.(?)" "p.(Trp663*)" ""
"0000733863" "00001847" "70" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" ""
"0000733864" "00001847" "70" "5646" "0" "5646" "0" "c.5646G>A" "r.(?)" "p.(Met1882Ile)" ""
"0000733865" "00001847" "70" "4234" "0" "4234" "0" "c.4234C>T" "r.(?)" "p.(Gln1412*)" ""
"0000733866" "00001847" "70" "5196" "1216" "5196" "1216" "c.5196+1216C>A" "r.spl" "p.?" ""
"0000733867" "00001847" "70" "4540" "-1" "4540" "-1" "c.4540-1G>A" "r.spl" "p.?" ""
"0000733868" "00001847" "70" "161" "0" "161" "0" "c.161G>A" "r.(?)" "p.(Cys54Tyr)" ""
"0000733877" "00001847" "70" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" ""
"0000733878" "00001847" "70" "3259" "0" "3259" "0" "c.3259G>A" "r.(?)" "p.(Glu1087Lys)" ""
"0000733879" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.(Gly863Ala)" ""
"0000733880" "00001847" "70" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" ""
"0000733886" "00001847" "70" "6391" "0" "6391" "0" "c.6391G>A" "r.(?)" "p.(Glu2131Lys)" ""
"0000733887" "00001847" "70" "1715" "0" "1715" "0" "c.1715G>A" "r.(?)" "p.(Arg572Gln)" ""
"0000733888" "00001847" "70" "1715" "0" "1715" "0" "c.1715G>A" "r.(?)" "p.(Arg572Gln)" ""
"0000733889" "00001847" "70" "6088" "0" "6088" "0" "c.6088C>T" "r.(?)" "p.(Arg2030*)" ""
"0000733890" "00001847" "70" "6088" "0" "6088" "0" "c.6088C>T" "r.(?)" "p.(Arg2030*)" ""
"0000733891" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" ""
"0000733892" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" ""
"0000733893" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" ""
"0000733894" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" ""
"0000733895" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" ""
"0000733896" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" ""
"0000733897" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" ""
"0000733898" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" ""
"0000733899" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" ""
"0000733900" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" ""
"0000733901" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" ""
"0000733902" "00001847" "70" "2560" "0" "2560" "0" "c.2560G>A" "r.(?)" "p.(Ala854Thr)" ""
"0000733903" "00001847" "70" "2560" "0" "2560" "0" "c.2560G>A" "r.(?)" "p.(Ala854Thr)" ""
"0000733904" "00001847" "70" "6119" "0" "6119" "0" "c.6119G>A" "r.(?)" "p.(Arg2040Gln)" ""
"0000733905" "00001847" "70" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" ""
"0000733906" "00001847" "70" "2042" "0" "2042" "0" "c.2042G>A" "r.(?)" "p.(Arg681Gln)" ""
"0000733907" "00001847" "70" "3799" "0" "3799" "0" "c.3799A>G" "r.(?)" "p.(Thr1267Ala)" ""
"0000733908" "00001847" "70" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" ""
"0000733909" "00001847" "70" "4222" "0" "4222" "0" "c.4222T>C" "r.(?)" "p.(Trp1408Arg)" ""
"0000733910" "00001847" "70" "6245" "0" "6245" "0" "c.6245C>T" "r.(?)" "p.(Val767Asp)" ""
"0000733911" "00001847" "70" "1906" "0" "1906" "0" "c.1906C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000734087" "00001847" "70" "688" "0" "688" "0" "c.688T>A" "r.(?)" "p.(Cys230Ser)" "6"
"0000734088" "00001847" "70" "2519" "0" "2519" "0" "c.2519T>G" "r.(?)" "p.(Met840Arg)" "16"
"0000734089" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000734090" "00001847" "70" "4457" "0" "4457" "0" "c.4457C>T" "r.(?)" "p.(Pro1486Leu)" "30"
"0000734091" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000734092" "00001847" "70" "302" "4" "302" "4" "c.302+4A>C" "r.spl?" "p.?" "3i"
"0000734093" "00001847" "90" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973*)" "43"
"0000734094" "00001847" "70" "6104" "0" "6104" "0" "c.6104T>C" "r.(?)" "p.(Leu2035Pro)" "44"
"0000734095" "00001847" "70" "4919" "0" "4919" "0" "c.4919G>A" "r.(?)" "p.(Arg1640Gln)" "35"
"0000734096" "00001847" "70" "5819" "0" "5819" "0" "c.5819T>C" "r.(?)" "p.(Leu1940Pro)" "41"
"0000734097" "00001847" "70" "4919" "0" "4919" "0" "c.4919G>A" "r.(?)" "p.(Arg1640Gln)" "35"
"0000734098" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000734099" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000734100" "00001847" "70" "6449" "0" "6449" "0" "c.6449G>A" "r.(?)" "p.(Cys2150Tyr)" "47"
"0000734101" "00001847" "70" "3056" "0" "3056" "0" "c.3056C>T" "r.(?)" "p.(Thr1019Met)" "21"
"0000734102" "00001847" "90" "4793" "0" "4793" "0" "c.4793C>A" "r.(?)" "p.(Ala1598Asp)" "34"
"0000734103" "00001847" "70" "2023" "0" "2023" "0" "c.2023G>A" "r.(?)" "p.(Val675Ile)" "14"
"0000734104" "00001847" "90" "3050" "5" "3050" "5" "c.3050+5G>A" "r.spl?" "p.?" "20i"
"0000734105" "00001847" "90" "3943" "0" "3943" "0" "c.3943C>T" "r.(?)" "p.(Gln1315*)" "27"
"0000734106" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000734107" "00001847" "70" "5044" "0" "5058" "0" "c.5044_5058del" "r.(?)" "p.(Val1682_Val1686del)" "36"
"0000734108" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl?" "p.?" "40i"
"0000734109" "00001847" "90" "247" "0" "250" "0" "c.247_250dup" "r.(?)" "p.(Ser84Thrfs*16)" "3"
"0000734110" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000734111" "00001847" "70" "1957" "0" "1957" "0" "c.1957C>T" "r.(?)" "p.(Arg653Cys)" "14"
"0000734112" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000734113" "00001847" "90" "452" "0" "452" "0" "c.452T>C" "r.(?)" "p.(Ile151Thr)" "5"
"0000734114" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000734115" "00001847" "90" "452" "0" "452" "0" "c.452T>C" "r.(?)" "p.(Ile151Thr)" "5"
"0000734116" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000734229" "00001847" "90" "4346" "0" "4346" "0" "c.4346G>A" "r.(?)" "p.(Trp1449*)" "29"
"0000734230" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl?" "p.?" "40i"
"0000734243" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000734245" "00001847" "90" "5289" "0" "5289" "0" "c.5289del" "r.(?)" "p.(Val1764Trpfs*14)" "37"
"0000734249" "00001847" "70" "1957" "0" "1957" "0" "c.1957C>T" "r.(?)" "p.(Arg653Cys)" "14"
"0000734250" "00001847" "70" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000734261" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000734262" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000734263" "00001847" "90" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" "31"
"0000734264" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000734266" "00001847" "70" "6410" "0" "6410" "0" "c.6410G>A" "r.(?)" "p.(Cys2137Tyr)" "47"
"0000734267" "00001847" "70" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000734268" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000734269" "00001847" "90" "6088" "0" "6088" "0" "c.6088C>T" "r.(?)" "p.(Arg2030*)" "44"
"0000734274" "00001847" "90" "3994" "0" "3994" "0" "c.3994C>T" "r.(?)" "p.(Gln1332*)" "27"
"0000734275" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000734276" "00001847" "90" "2041" "0" "2041" "0" "c.2041C>T" "r.(?)" "p.(Arg681*)" "14"
"0000734277" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000734279" "00001847" "70" "868" "0" "868" "0" "c.868C>T" "r.(?)" "p.(Arg290Trp)" "8"
"0000734280" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000734281" "00001847" "70" "1957" "0" "1957" "0" "c.1957C>T" "r.(?)" "p.(Arg653Cys)" "14"
"0000734282" "00001847" "70" "6415" "0" "6415" "0" "c.6415C>T" "r.(?)" "p.(Arg2139Trp)" "47"
"0000734330" "00001847" "70" "6083" "0" "6083" "0" "c.6083C>T" "r.(?)" "p.(Thr2028Ile)" ""
"0000734331" "00001847" "70" "3364" "0" "3364" "0" "c.3364G>A" "r.(?)" "p.(Glu1122Lys)" ""
"0000734332" "00001847" "70" "5318" "0" "5318" "0" "c.5318C>T" "r.(?)" "p.(Ala1773Val)" ""
"0000734386" "00001847" "70" "740" "0" "740" "0" "c.740A>T" "r.(?)" "p.(Asn247Ile)" ""
"0000734387" "00001847" "70" "1496" "0" "1496" "0" "c.1496G>A" "r.(?)" "p.(Trp499*)" ""
"0000734388" "00001847" "70" "164" "0" "164" "0" "c.164A>G" "r.(?)" "p.(His55Arg)" ""
"0000734410" "00001847" "90" "2345" "0" "2345" "0" "c.2345G>A" "r.(?)" "p.(Trp782*)" ""
"0000734519" "00001847" "70" "3608" "0" "3608" "0" "c.3608G>A" "r.(?)" "p.(Gly1203Glu)" "25"
"0000734520" "00001847" "70" "5044" "0" "5058" "0" "c.5044_5058del" "r.(?)" "p.(Val1682_Val1686del)" "36"
"0000734521" "00001847" "90" "4793" "0" "4793" "0" "c.4793C>A" "r.(?)" "p.(Ala1598Asp)" "34"
"0000734522" "00001847" "70" "5549" "0" "5549" "0" "c.5549T>C" "r.(?)" "p.(Leu1850Pro)" "39"
"0000734523" "00001847" "70" "5929" "0" "5929" "0" "c.5929G>A" "r.(?)" "p.(Gly1977Ser)" "43"
"0000734524" "00001847" "90" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071Cysfs*14)" "22"
"0000734525" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000734526" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000734537" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000734540" "00001847" "70" "6449" "0" "6449" "0" "c.6449G>A" "r.(?)" "p.(Cys2150Tyr)" "47"
"0000734544" "00001847" "70" "688" "0" "688" "0" "c.688T>A" "r.(?)" "p.(Cys230Ser)" "6"
"0000734546" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000734553" "00001847" "90" "885" "0" "885" "0" "c.885del" "r.(?)" "p.(Leu296Cysfs*4)" "8"
"0000734554" "00001847" "90" "3607" "1" "3607" "1" "c.3607+1G>A" "r.spl?" "p.?" "24i"
"0000734555" "00001847" "90" "885" "0" "885" "0" "c.885del" "r.(?)" "p.(Leu296Cysfs*4)" "8"
"0000734556" "00001847" "70" "5044" "0" "5058" "0" "c.5044_5058del" "r.(?)" "p.(Val1682_Val1686del)" "36"
"0000734557" "00001847" "70" "223" "0" "223" "0" "c.223T>G" "r.(?)" "p.(Cys75Gly)" "3"
"0000734558" "00001847" "70" "302" "4" "302" "4" "c.302+4A>C" "r.spl?" "p.?" "3i"
"0000734559" "00001847" "70" "1957" "0" "1957" "0" "c.1957C>T" "r.(?)" "p.(Arg653Cys)" "14"
"0000734560" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000734561" "00001847" "70" "1957" "0" "1957" "0" "c.1957C>T" "r.(?)" "p.(Arg653Cys)" "14"
"0000734562" "00001847" "70" "6286" "0" "6286" "0" "c.6286G>A" "r.(?)" "p.(Glu2096Lys)" "46"
"0000734563" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000734564" "00001847" "90" "4667" "1" "4667" "1" "c.4667+1G>A" "r.spl?" "p.?" "32i"
"0000734601" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000734602" "00001847" "70" "6718" "0" "6718" "0" "c.6718A>G" "r.(?)" "p.(Thr2240Ala)" "48"
"0000734605" "00001847" "90" "3259" "0" "3259" "0" "c.3259G>A" "r.(?)" "p.(Glu1087Lys)" "22"
"0000734609" "00001847" "70" "6214" "0" "6214" "0" "c.6214A>C" "r.(?)" "p.(Ser2072Arg)" "45"
"0000734610" "00001847" "70" "5959" "0" "5959" "0" "c.5959G>T" "r.(?)" "p.(Gly1987Trp)" "43"
"0000734611" "00001847" "90" "5961" "0" "5964" "0" "c.5961_5964del" "r.(?)" "p.(Asp1988Profs*3)" "43"
"0000734615" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl?" "p.?" "40i"
"0000734707" "00001847" "50" "667" "0" "667" "0" "c.667A>C" "r.(?)" "p.(Lys223Gln)" ""
"0000735156" "00001847" "70" "688" "0" "688" "0" "c.688T>A" "r.(?)" "p.(Cys230Ser)" "6"
"0000735158" "00001847" "70" "6718" "0" "6718" "0" "c.6718A>G" "r.(?)" "p.(Thr2240Ala)" "48"
"0000735159" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl?" "p.?" "40i"
"0000735160" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000735161" "00001847" "70" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000735162" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl?" "p.?" "40i"
"0000735310" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000735311" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000735313" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000735314" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.(Gly863Ala)" "17"
"0000735315" "00001847" "50" "1411" "0" "1411" "0" "c.1411G>A" "r.(?)" "p.(Glu471Lys)" "11"
"0000735316" "00001847" "70" "4919" "0" "4919" "0" "c.4919G>A" "r.(?)" "p.(Arg1640Gln)" "35"
"0000735317" "00001847" "50" "5693" "0" "5693" "0" "c.5693G>A" "r.(?)" "p.(Arg1898His)" "40"
"0000735319" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000735320" "00001847" "70" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000735321" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000735323" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.(Gly863Ala)" "17"
"0000735324" "00001847" "90" "4352" "1" "4352" "1" "c.4352+1G>A" "r.spl?" "p.?" "29i"
"0000735326" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000735328" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000735329" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000735330" "00001847" "70" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.?" "38i"
"0000735331" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl?" "p.?" "40i"
"0000735334" "00001847" "70" "3323" "0" "3323" "0" "c.3323G>A" "r.(?)" "p.(Arg1108His)" "22"
"0000735335" "00001847" "50" "4297" "0" "4297" "0" "c.4297G>A" "r.(?)" "p.(Val1433Ile)" "29"
"0000735336" "00001847" "90" "3970" "0" "3970" "0" "c.3970del" "r.(?)" "p.(Ala1324Argfs*65)" "27"
"0000735337" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000735338" "00001847" "70" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000735339" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000735340" "00001847" "70" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000735341" "00001847" "90" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" "31"
"0000735342" "00001847" "70" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.?" "38i"
"0000735343" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl?" "p.?" "40i"
"0000735364" "00001847" "70" "2285" "0" "2285" "0" "c.2285C>A" "r.(?)" "p.(Ala762Glu)" "15"
"0000735365" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000735367" "00001847" "70" "2285" "0" "2285" "0" "c.2285C>A" "r.(?)" "p.(Ala762Glu)" "15"
"0000735368" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000735370" "00001847" "90" "1390" "0" "1391" "0" "c.1390_1391del" "r.(?)" "p.(Leu464Glufs*2)" "11"
"0000735372" "00001847" "90" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" "35"
"0000735377" "00001847" "90" "1390" "0" "1391" "0" "c.1390_1391del" "r.(?)" "p.(Leu464Glufs*2)" "11"
"0000735379" "00001847" "90" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" "35"
"0000735575" "00001847" "90" "1822" "0" "1822" "0" "c.1822T>A" "r.(?)" "p.(Phe608Ile)" ""
"0000735576" "00001847" "90" "1822" "0" "1822" "0" "c.1822T>A" "r.(?)" "p.(Phe608Ile)" ""
"0000735577" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000735578" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl?" "p.?" ""
"0000735579" "00001847" "90" "5584" "6" "5584" "6" "c.5584+6T>C" "r.spl?" "p.?" ""
"0000735580" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000735581" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" ""
"0000735582" "00001847" "90" "6729" "5" "6729" "19" "c.6729+5_6729+19del" "r.spl?" "p.?" ""
"0000735583" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.?" ""
"0000735702" "00001847" "90" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.spl?" "p.?" ""
"0000735703" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl?" "p.?" ""
"0000735704" "00001847" "90" "4539" "2001" "4539" "2001" "c.4539+2001G>A" "r.spl?" "p.?" ""
"0000735705" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000735706" "00001847" "90" "4539" "2001" "4539" "2001" "c.4539+2001G>A" "r.spl?" "p.?" ""
"0000735707" "00001847" "90" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973*)" ""
"0000735708" "00001847" "90" "4539" "2001" "4539" "2001" "c.4539+2001G>A" "r.spl?" "p.?" ""
"0000735709" "00001847" "90" "6729" "5" "6729" "19" "c.6729+5_6729+19del" "r.spl?" "p.?" ""
"0000735710" "00001847" "90" "4537" "0" "4537" "0" "c.4537dup" "r.(?)" "p.(Gln1513Profs*42)" ""
"0000735846" "00001847" "50" "514" "0" "514" "0" "c.514G>A" "r.(?)" "p.(Gly172Ser)" ""
"0000735850" "00001847" "70" "2041" "0" "2041" "0" "c.2041C>T" "r.(?)" "p.(Arg681Ter)" ""
"0000735851" "00001847" "70" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" ""
"0000735852" "00001847" "70" "3988" "0" "3988" "0" "c.3988G>T" "r.(?)" "p.(Glu1330Ter)" ""
"0000735854" "00001847" "70" "5461" "-1" "5461" "-1" "c.5461-1G>T" "r.spl" "p.?" ""
"0000735866" "00001847" "70" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071CysfsTer14)" ""
"0000735870" "00001847" "70" "4919" "0" "4919" "0" "c.4919G>A" "r.(?)" "p.(Arg1640Gln)" ""
"0000735871" "00001847" "70" "5819" "0" "5819" "0" "c.5819T>C" "r.(?)" "p.(Leu1940Pro)" ""
"0000735872" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000735874" "00001847" "70" "6118" "0" "6118" "0" "c.6118C>T" "r.(?)" "p.(Arg2040Ter)" ""
"0000735879" "00001847" "50" "2023" "0" "2023" "0" "c.2023G>A" "r.(?)" "p.(Val675Ile)" ""
"0000735880" "00001847" "50" "6148" "0" "6148" "0" "c.6148G>C" "r.(?)" "p.(Val2050Leu)" ""
"0000735882" "00001847" "70" "52" "0" "52" "0" "c.52C>T" "r.(?)" "p.(Arg18Trp)" ""
"0000735883" "00001847" "70" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" ""
"0000735950" "00001847" "70" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Ter)" ""
"0000735980" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000735981" "00001847" "90" "5908" "0" "5908" "0" "c.5908C>T" "r.(?)" "p.(Leu1970Phe)" "43"
"0000735982" "00001847" "50" "6148" "0" "6148" "0" "c.6148G>C" "r.(?)" "p.(Val2050Leu)" "45"
"0000735983" "00001847" "50" "6148" "0" "6148" "0" "c.6148G>C" "r.(?)" "p.(Val2050Leu)" "45"
"0000735984" "00001847" "50" "6148" "0" "6148" "0" "c.6148G>C" "r.(?)" "p.(Val2050Leu)" "46"
"0000736076" "00001847" "70" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" ""
"0000736096" "00001847" "70" "6088" "0" "6088" "0" "c.6088C>T" "r.(?)" "p.(Arg2030*)" ""
"0000736100" "00001847" "70" "5318" "0" "5318" "0" "c.5318C>T" "r.(?)" "p.(Ala1773Val)" ""
"0000736107" "00001847" "70" "6289" "0" "6289" "0" "c.6289C>T" "r.(?)" "p.(Pro2097Ser)" ""
"0000736110" "00001847" "70" "6083" "0" "6083" "0" "c.6083C>T" "r.(?)" "p.(Thr2028Ile)" ""
"0000736116" "00001847" "70" "5501" "0" "5501" "0" "c.5501T>C" "r.(?)" "p.(Ile1834Thr)" ""
"0000736124" "00001847" "70" "6592" "0" "6592" "0" "c.6592C>T" "r.(?)" "p.(Gln2198*)" ""
"0000736137" "00001847" "70" "4034" "0" "4034" "0" "c.4034A>G" "r.(?)" "p.(Asn1345Ser)" ""
"0000736138" "00001847" "70" "317" "0" "317" "0" "c.317A>T" "r.(?)" "p.(Tyr106Phe)" ""
"0000736143" "00001847" "70" "5367" "0" "5367" "0" "c.5367C>G" "r.(?)" "p.(Ser1789Arg)" ""
"0000736148" "00001847" "70" "101" "0" "106" "0" "c.101_106del" "r.(?)" "p.(Ser34_Leu35del)" ""
"0000736149" "00001847" "70" "2954" "0" "2954" "0" "c.2954G>T" "r.(?)" "p.(Gly985Val)" ""
"0000736152" "00001847" "70" "740" "0" "740" "0" "c.740A>T" "r.(?)" "p.(Asn247Ile)" ""
"0000736156" "00001847" "70" "2965" "0" "2965" "0" "c.2965G>A" "r.(?)" "p.(Val989Ile)" ""
"0000736165" "00001847" "90" "93" "0" "93" "0" "c.93G>A" "r.(?)" "p.(Trp31*)" ""
"0000736168" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000736169" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000736170" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" ""
"0000736172" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000736173" "00001847" "90" "5318" "0" "5318" "0" "c.5318C>T" "r.(?)" "p.(Ala1773Val)" ""
"0000736181" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.?" "40i"
"0000736182" "00001847" "90" "2099" "0" "2099" "0" "c.2099G>A" "r.(?)" "p.(Trp700*)" "14"
"0000736183" "00001847" "90" "2099" "0" "2099" "0" "c.2099G>A" "r.(?)" "p.(Trp700*)" "14"
"0000736184" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000736185" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000736186" "00001847" "90" "2461" "0" "2461" "0" "c.2461T>A" "r.(?)" "p.(Trp821Arg)" "16"
"0000736187" "00001847" "90" "6445" "0" "6445" "0" "c.6445C>T" "r.(?)" "p.(Arg2149*)" "47"
"0000736188" "00001847" "90" "2842" "0" "2842" "0" "c.2842C>T" "r.(?)" "p.(Arg948Cys)" "19"
"0000736189" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000736190" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000736191" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000736192" "00001847" "90" "5285" "0" "5285" "0" "c.5285C>A" "r.(?)" "p.(Ala1762Asp)" "37"
"0000736235" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.?" ""
"0000736241" "00001847" "90" "1375" "0" "1375" "0" "c.1375del" "r.(?)" "p.(Thr459Glnfs*2)" "11"
"0000736242" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.(Val256=)" "6"
"0000736243" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.(Val256=)" "6"
"0000736244" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000736245" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000736246" "00001847" "90" "2300" "0" "2300" "0" "c.2300T>A" "r.(?)" "p.(Val767Asp)" "15"
"0000736247" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000736248" "00001847" "90" "2300" "0" "2300" "0" "c.2300T>A" "r.(?)" "p.(Val767Asp)" "15"
"0000736249" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000736250" "00001847" "90" "2549" "0" "2549" "0" "c.2549A>G" "r.(?)" "p.(Tyr850Cys)" "16"
"0000736251" "00001847" "90" "2300" "0" "2300" "0" "c.2300T>A" "r.(?)" "p.(Val767Asp)" "15"
"0000736513" "00001847" "90" "5819" "0" "5819" "0" "c.5819T>C" "r.(?)" "p.(Leu1940Pro)" ""
"0000736514" "00001847" "70" "2828" "0" "2828" "0" "c.2828G>A" "r.(?)" "p.(Arg943Gln)" ""
"0000736515" "00001847" "90" "1957" "0" "1957" "0" "c.1957C>T" "r.(?)" "p.(Arg653Cys)" ""
"0000736516" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" ""
"0000736517" "00001847" "70" "2828" "0" "2828" "0" "c.2828G>A" "r.(?)" "p.(Arg943Gln)" ""
"0000736518" "00001847" "90" "2565" "0" "2565" "0" "c.2565G>A" "r.(?)" "p.(Trp855Ter)" ""
"0000736520" "00001847" "90" "2791" "0" "2791" "0" "c.2791G>A" "r.(?)" "p.(Val931Met)" ""
"0000736521" "00001847" "90" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" ""
"0000736522" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.(Gly863Ala)" ""
"0000736523" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" ""
"0000736524" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" ""
"0000736525" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000736526" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000736527" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000736528" "00001847" "90" "6316" "0" "6316" "0" "c.6316C>T" "r.(?)" "p.(Arg2106Cys)" ""
"0000736529" "00001847" "70" "230" "0" "230" "0" "c.230T>A" "r.(?)" "p.(Val77Glu)" ""
"0000736530" "00001847" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" ""
"0000736531" "00001847" "50" "2537" "0" "2537" "0" "c.2537A>T" "r.(?)" "p.(Asp846Val)" ""
"0000736532" "00001847" "90" "895" "0" "895" "0" "c.895del" "r.(?)" "p.(Val299*)" ""
"0000736533" "00001847" "90" "1805" "0" "1805" "0" "c.1805G>A" "r.(?)" "p.(Arg602Gln)" ""
"0000736534" "00001847" "90" "3064" "0" "3064" "0" "c.3064G>A" "r.(?)" "p.(Glu1022Lys)" ""
"0000736535" "00001847" "90" "4892" "0" "4892" "0" "c.4892T>C" "r.(?)" "p.(Leu1631Pro)" ""
"0000736536" "00001847" "90" "701" "0" "702" "0" "c.701_702insATC" "r.(?)" "p.(Gln234_Gly235insSer)" ""
"0000736537" "00001847" "90" "1268" "0" "1268" "0" "c.1268A>G" "r.(?)" "p.(His423Arg)" ""
"0000736538" "00001847" "70" "2552" "0" "2552" "0" "c.2552G>A" "r.(?)" "p.(Gly851Asp)" ""
"0000736539" "00001847" "70" "5206" "0" "5206" "0" "c.5206T>C" "r.(?)" "p.(Ser1736Pro)" ""
"0000736540" "00001847" "70" "3295" "0" "3295" "0" "c.3295T>C" "r.(?)" "p.(Ser1099Pro)" ""
"0000736541" "00001847" "70" "0" "0" "0" "0" "c.?" "r.?" "p.?" ""
"0000736542" "00001847" "90" "2804" "0" "2804" "0" "c.2804T>C" "r.(?)" "p.(Val935Ala)" ""
"0000736543" "00001847" "90" "1823" "0" "1823" "0" "c.1823T>A" "r.(?)" "p.(Phe608Tyr)" ""
"0000736544" "00001847" "90" "1007" "0" "1007" "0" "c.1007C>G" "r.(?)" "p.(Ser336Cys)" ""
"0000736545" "00001847" "90" "1356" "0" "1356" "0" "c.1356del" "r.(?)" "p.(Asp453IlefsTer8)" ""
"0000736546" "00001847" "90" "1343" "0" "1345" "0" "c.1343_1345del" "r.(?)" "p.(Met448del)" ""
"0000736547" "00001847" "90" "428" "0" "428" "0" "c.428C>T" "r.(?)" "p.(Pro143Leu)" ""
"0000736548" "00001847" "90" "233" "0" "234" "0" "c.233_234insAAGAA" "r.(?)" "p.(Asn78LysfsTer39)" ""
"0000736549" "00001847" "90" "1715" "0" "1715" "0" "c.1715G>A" "r.(?)" "p.(Arg572Gln)" ""
"0000736550" "00001847" "70" "203" "0" "203" "0" "c.203C>T" "r.(?)" "p.(Pro68Leu)" ""
"0000736551" "00001847" "70" "2828" "0" "2828" "0" "c.2828G>A" "r.(?)" "p.(Arg943Gln)" ""
"0000736552" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.(Gly863Ala)" ""
"0000736553" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" ""
"0000736554" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000736555" "00001847" "90" "3278" "0" "3278" "0" "c.3278A>C" "r.(?)" "p.(Asp1093Ala)" ""
"0000736559" "00001847" "70" "5753" "0" "5753" "0" "c.5753A>T" "r.(?)" "p.(Asp1918Val)" ""
"0000736603" "00001847" "10" "294" "0" "294" "0" "c.294C>G" "r.(?)" "p.(Asn98Lys)" "3"
"0000736604" "00001847" "90" "564" "0" "564" "0" "c.564del" "r.(?)" "p.(Glu189SerfsTer12)" "5"
"0000736605" "00001847" "70" "3395" "0" "3395" "0" "c.3395T>C" "r.(?)" "p.(Ile1132Thr)" "23"
"0000736606" "00001847" "10" "1237" "0" "1237" "0" "c.1237A>T" "r.(?)" "p.(Asn413Tyr)" "9"
"0000736607" "00001847" "70" "677" "0" "677" "0" "c.677G>T" "r.(?)" "p.(Arg226Leu)" "6"
"0000736608" "00001847" "10" "3547" "0" "3547" "0" "c.3547G>T" "r.(?)" "p.(Gly1183Cys)" "24"
"0000736609" "00001847" "70" "5137" "0" "5137" "0" "c.5137C>A" "r.(?)" "p.(Gln1713Lys)" "36"
"0000736610" "00001847" "70" "5138" "0" "5138" "0" "c.5138A>G" "r.(?)" "p.(Gln1713Arg)" "36"
"0000736611" "00001847" "70" "3279" "0" "3279" "0" "c.3279C>A" "r.(?)" "p.(Asp1093Glu)" "22"
"0000736612" "00001847" "70" "4504" "0" "4504" "0" "c.4504T>G" "r.(?)" "p.(Cys1502Gly)" "30"
"0000736613" "00001847" "70" "5447" "0" "5447" "0" "c.5447T>C" "r.(?)" "p.(Phe1816Ser)" "38"
"0000736614" "00001847" "90" "853" "0" "853" "0" "c.853C>T" "r.(?)" "p.(Gln285Ter)" "7"
"0000736615" "00001847" "70" "1677" "0" "1677" "0" "c.1677G>C" "r.(?)" "p.(Trp559Cys)" "12"
"0000736616" "00001847" "10" "1861" "0" "1861" "0" "c.1861A>G" "r.(?)" "p.(Arg621Gly)" "13"
"0000736617" "00001847" "70" "2852" "0" "2852" "0" "c.2852T>C" "r.(?)" "p.(Ile951Thr)" "19"
"0000736618" "00001847" "10" "4556" "0" "4556" "0" "c.4556C>T" "r.(?)" "p.(Thr1519Met)" "31"
"0000736619" "00001847" "50" "5391" "0" "5391" "0" "c.5391T>C" "r.(?)" "p.(Cys1797=)" "38"
"0000736620" "00001847" "90" "3871" "0" "3871" "0" "c.3871C>T" "r.(?)" "p.(Gln1291Ter)" "27"
"0000736621" "00001847" "70" "3211" "0" "3211" "0" "c.3211T>C" "r.(?)" "p.(Ser1071Pro)" "22"
"0000736622" "00001847" "70" "4326" "0" "4326" "0" "c.4326C>A" "r.(?)" "p.(Asn1442Lys)" "29"
"0000736623" "00001847" "90" "5175" "0" "5175" "0" "c.5175dup" "r.(?)" "p.(Thr1726AspfsTer61)" "36"
"0000736624" "00001847" "50" "302" "26" "302" "26" "c.302+26A>G" "r.spl" "p.?" "3"
"0000736625" "00001847" "90" "4216" "0" "4216" "0" "c.4216delC" "r.(?)" "p.(His1406ThrfsTer30)" "28"
"0000736626" "00001847" "70" "3017" "0" "3017" "0" "c.3017G>T" "r.(?)" "p.(Gly1006Val)" "20"
"0000736627" "00001847" "90" "655" "0" "655" "0" "c.655A>T" "r.(?)" "p.(Arg219Ter)" "6"
"0000736628" "00001847" "70" "2971" "0" "2971" "0" "c.2971G>C" "r.(?)" "p.(Gly991Arg)" "20"
"0000736629" "00001847" "70" "1529" "0" "1529" "0" "c.1529T>C" "r.(?)" "p.(Leu510Pro)" "11"
"0000736805" "00001847" "90" "4832" "0" "4832" "0" "c.4832del" "r.(?)" "p.(Thr1611MetfsTer51)" ""
"0000736808" "00001847" "70" "1043" "0" "1043" "0" "c.1043T>G" "r.(?)" "p.(Phe348Cys)" ""
"0000736815" "00001847" "70" "3840" "0" "3845" "0" "c.3840_3845del" "r.(?)" "p.(Asp1281_Ser1282del)" ""
"0000759658" "00001847" "90" "6179" "0" "6179" "0" "c.6179T>G" "r.(?)" "p.(Leu2060Arg)" ""
"0000759674" "00001847" "90" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" ""
"0000759898" "00001847" "90" "1462" "0" "1462" "0" "c.1462G>T" "r.(?)" "p.(Glu488*)" ""
"0000759903" "00001847" "50" "1928" "0" "1928" "0" "c.1928T>G" "r.(?)" "p.(Val643Gly)" ""
"0000759910" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000759911" "00001847" "90" "4873" "0" "4873" "0" "c.4873C>T" "r.(?)" "p.(His1625Tyr)" ""
"0000759912" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000759913" "00001847" "90" "1988" "0" "1988" "0" "c.1988G>A" "r.(?)" "p.(Trp663*)" ""
"0000759914" "00001847" "90" "5381" "0" "5381" "0" "c.5381C>A" "r.(?)" "p.(Ala1794Asp)" ""
"0000759915" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000759916" "00001847" "90" "6122" "0" "6122" "0" "c.6122G>A" "r.(?)" "p.(Gly2041Asp)" ""
"0000759947" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" ""
"0000759948" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.?" ""
"0000759949" "00001847" "90" "2160" "1" "2160" "1" "c.2160+1G>T" "r.spl" "p.?" ""
"0000759950" "00001847" "90" "2401" "0" "2401" "0" "c.2401G>A" "r.(?)" "p.(Ala801Thr)" ""
"0000759951" "00001847" "90" "2041" "0" "2041" "0" "c.2041C>T" "r.(?)" "p.(Arg681*)" ""
"0000759952" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000760008" "00001847" "50" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000760032" "00001847" "50" "1302" "0" "1302" "0" "c.1302del" "r.(?)" "p.(Gln437Argfs*12)" ""
"0000760035" "00001847" "50" "688" "0" "688" "0" "c.688T>A" "r.(?)" "p.(Cys230Ser)" ""
"0000760083" "00001847" "50" "466" "0" "466" "0" "c.466A>G" "r.(?)" "p.(Ile156Val)" ""
"0000760101" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000760140" "00001847" "70" "5908" "0" "5908" "0" "c.5908C>T" "r.(?)" "p.(Leu1970Phe)" ""
"0000760164" "00001847" "70" "5170" "0" "5170" "0" "c.5170T>C" "r.(?)" "p.(Trp1724Arg)" ""
"0000760166" "00001847" "70" "6449" "0" "6449" "0" "c.6449G>A" "r.(?)" "p.(Cys2150Tyr)" ""
"0000760168" "00001847" "50" "3098" "0" "3098" "0" "c.3098del" "r.(?)" "p.(Lys1033Serfs*51)" ""
"0000760169" "00001847" "70" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973*)" ""
"0000760273" "00001847" "70" "1906" "0" "1906" "0" "c.1906C>T" "r.(?)" "p.(Gln636*)" ""
"0000760274" "00001847" "70" "3342" "0" "3342" "0" "c.3342del" "r.(?)" "p.(Met1115Cysfs*33)" ""
"0000760327" "00001847" "70" "6658" "0" "6658" "0" "c.6658C>T" "r.(?)" "p.(Gln2220*)" ""
"0000760351" "00001847" "70" "2690" "0" "2690" "0" "c.2690C>T" "r.(?)" "p.(Thr897Ile)" ""
"0000760354" "00001847" "70" "1906" "0" "1906" "0" "c.1906C>T" "r.(?)" "p.(Gln636*)" ""
"0000760355" "00001847" "70" "4326" "0" "4326" "0" "c.4326C>A" "r.(?)" "p.(Asn1442Lys)" ""
"0000760358" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000760361" "00001847" "70" "3259" "0" "3259" "0" "c.3259G>A" "r.(?)" "p.(Glu1087Lys)" ""
"0000760362" "00001847" "70" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" ""
"0000760363" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000760365" "00001847" "50" "6107" "0" "6107" "0" "c.6107A>G" "r.(?)" "p.(Tyr2036Cys)" ""
"0000760369" "00001847" "70" "1609" "0" "1609" "0" "c.1609C>T" "r.(?)" "p.(Arg537Cys)" ""
"0000760371" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000760372" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000760397" "00001847" "70" "5316" "0" "5316" "0" "c.5316G>A" "r.(?)" "p.(Trp1772*)" ""
"0000760418" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" ""
"0000760426" "00001847" "70" "454" "0" "454" "0" "c.454C>T" "r.(?)" "p.(Arg152*)" ""
"0000760428" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" ""
"0000760429" "00001847" "70" "6658" "0" "6658" "0" "c.6658C>T" "r.(?)" "p.(Gln2220*)" ""
"0000760480" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.(Gly863Ala)" ""
"0000760502" "00001847" "70" "1140" "0" "1140" "0" "c.1140T>A" "r.(?)" "p.(Asn380Lys)" ""
"0000760504" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" ""
"0000760505" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" ""
"0000760506" "00001847" "50" "1873" "0" "1873" "0" "c.1873C>T" "r.(?)" "p.(Gln625*)" ""
"0000760507" "00001847" "70" "5018" "2" "5018" "2" "c.5018+2T>C" "r.spl" "p.?" ""
"0000760508" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" ""
"0000760509" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" ""
"0000760511" "00001847" "70" "161" "0" "161" "0" "c.161G>A" "r.(?)" "p.(Cys54Tyr)" ""
"0000760512" "00001847" "50" "2566" "0" "2566" "0" "c.2566T>A" "r.(?)" "p.(Tyr856Asn)" ""
"0000760528" "00001847" "70" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" ""
"0000760649" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" ""
"0000760671" "00001847" "90" "1819" "0" "1819" "0" "c.1819G>C" "r.(?)" "p.(Gly607Arg)" ""
"0000760764" "00001847" "90" "1442" "0" "1442" "0" "c.1442del" "r.(?)" "p.(Phe481SerfsTer87)" ""
"0000760821" "00001847" "50" "52" "0" "52" "0" "c.52C>T" "r.(?)" "p.(Arg18Trp)" ""
"0000760822" "00001847" "50" "1268" "0" "1268" "0" "c.1268A>G" "r.(?)" "p.(His423Arg)" ""
"0000760823" "00001847" "50" "1268" "0" "1268" "0" "c.1268A>G" "r.(?)" "p.(His423Arg)" ""
"0000760824" "00001847" "50" "1268" "0" "1268" "0" "c.1268A>G" "r.(?)" "p.(His423Arg)" ""
"0000760825" "00001847" "50" "2690" "0" "2690" "0" "c.2690C>T" "r.(?)" "p.(Thr897Ile)" ""
"0000760826" "00001847" "50" "2828" "0" "2828" "0" "c.2828G>A" "r.(?)" "p.(Arg943Gln)" ""
"0000760827" "00001847" "50" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973Ter)" ""
"0000760828" "00001847" "50" "161" "-5" "161" "-5" "c.161-5T>C" "r.(?)" "p.?" ""
"0000760829" "00001847" "50" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" ""
"0000760830" "00001847" "50" "1268" "0" "1268" "0" "c.1268A>G" "r.(?)" "p.(His423Arg)" ""
"0000760831" "00001847" "50" "6282" "7" "6282" "7" "c.6282+7G>A" "r.spl?" "p.?" ""
"0000760832" "00001847" "50" "1268" "0" "1268" "0" "c.1268A>G" "r.(?)" "p.(His423Arg)" ""
"0000760833" "00001847" "50" "6282" "7" "6282" "7" "c.6282+7G>A" "r.spl?" "p.?" ""
"0000760834" "00001847" "50" "6282" "7" "6282" "7" "c.6282+7G>A" "r.spl?" "p.?" ""
"0000760835" "00001847" "50" "4793" "0" "4793" "0" "c.4793C>A" "r.(?)" "p.(Ala1598Asp)" ""
"0000760836" "00001847" "50" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" ""
"0000760837" "00001847" "50" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl?" "p.?" ""
"0000760838" "00001847" "50" "4573" "0" "4573" "0" "c.4573C>G" "r.(?)" "p.(Leu1525Val)" ""
"0000760839" "00001847" "50" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" ""
"0000760840" "00001847" "50" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" ""
"0000760841" "00001847" "50" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" ""
"0000760842" "00001847" "50" "3323" "0" "3323" "0" "c.3323G>A" "r.(?)" "p.(Arg1108His)" ""
"0000760843" "00001847" "50" "6282" "7" "6282" "7" "c.6282+7G>A" "r.spl?" "p.?" ""
"0000760844" "00001847" "50" "4352" "1" "4352" "1" "c.4352+1G>A" "r.spl" "p.?" ""
"0000760845" "00001847" "50" "4352" "1" "4352" "1" "c.4352+1G>A" "r.spl" "p.?" ""
"0000760846" "00001847" "50" "4352" "1" "4352" "1" "c.4352+1G>A" "r.spl" "p.?" ""
"0000760847" "00001847" "50" "6764" "0" "6764" "0" "c.6764G>T" "r.(?)" "p.(Ser2255Ile)" ""
"0000760848" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000760849" "00001847" "50" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000760850" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000760851" "00001847" "50" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973Ter)" ""
"0000760852" "00001847" "50" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000760853" "00001847" "50" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000760854" "00001847" "50" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000760855" "00001847" "50" "1268" "0" "1268" "0" "c.1268A>G" "r.(?)" "p.(His423Arg)" ""
"0000760856" "00001847" "50" "2560" "0" "2560" "0" "c.2560G>A" "r.(?)" "p.(Ala854Thr)" ""
"0000760857" "00001847" "50" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl?" "p.?" ""
"0000763473" "00001847" "90" "4919" "0" "4919" "0" "c.4919G>A" "r.(?)" "p.(Arg1640Gln)" "35"
"0000763881" "00001847" "70" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" ""
"0000763882" "00001847" "70" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" ""
"0000763883" "00001847" "70" "2055" "0" "2055" "0" "c.2055del" "r.(?)" "p.(Leu686Ter)" ""
"0000763884" "00001847" "70" "1957" "0" "1957" "0" "c.1957C>T" "r.(?)" "p.(Arg653Cys)" ""
"0000763885" "00001847" "70" "1646" "0" "1646" "0" "c.1646C>A" "r.(?)" "p.(Ala549Asp)" ""
"0000763886" "00001847" "70" "3055" "0" "3055" "0" "c.3055A>G" "r.(?)" "p.(Thr1019Ala)" ""
"0000763964" "00001847" "70" "6592" "0" "6592" "0" "c.6592C>T" "r.(?)" "p.(Gln2198Ter)" ""
"0000763965" "00001847" "70" "1795" "0" "1795" "0" "c.1795del" "r.(?)" "p.(Glu599LysfsTer50)" ""
"0000763966" "00001847" "70" "4604" "0" "4604" "0" "c.4604dup" "r.(?)" "p.(Thr1537AsnfsTer18)" ""
"0000763967" "00001847" "70" "4849" "-1" "4849" "-1" "c.4849-1C>G" "r.spl" "p.?" ""
"0000763968" "00001847" "70" "4773" "1" "4773" "1" "c.4773+1C>A" "r.spl" "p.?" ""
"0000764024" "00001847" "70" "6445" "0" "6445" "0" "c.6445C>T" "r.(?)" "p.(Arg2149Ter)" ""
"0000764025" "00001847" "70" "1760" "2" "1760" "2" "c.1760+2T>G" "r.spl" "p.?" ""
"0000764028" "00001847" "70" "1957" "0" "1957" "0" "c.1957C>T" "r.(?)" "p.(Arg653Cys)" ""
"0000764030" "00001847" "70" "3050" "1" "3050" "1" "c.3050+1G>A" "r.spl" "p.?" ""
"0000764051" "00001847" "70" "4234" "0" "4234" "0" "c.4234C>T" "r.(?)" "p.(Gln1412Ter)" ""
"0000764077" "00001847" "70" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973Ter)" ""
"0000764089" "00001847" "90" "6079" "0" "6079" "0" "c.6079C>T" "r.6079c>u" "p.(Leu2027Phe)" "44"
"0000764090" "00001847" "90" "6743" "0" "6743" "0" "c.6743T>C" "r.6743u>c" "p.(Phe2248Ser)" "49"
"0000764091" "00001847" "90" "5603" "0" "5603" "0" "c.5603A>T" "r.5603a>u" "p.(Asn1868Ile)" "40"
"0000764092" "00001847" "90" "161" "0" "161" "0" "c.161G>A" "r.[161_302del,161g>a]" "p.[Cys54Serfs*14,Cys54Tyr]" "3"
"0000764126" "00001847" "30" "5460" "1315" "5460" "1317" "c.5460+1315_5460+1317delinsTA" "r.=" "p.(=)" "38i"
"0000764135" "00001847" "90" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.[=,5196_5197ins5196+1140_5196+1212]" "p.[=,Met1733Glufs*78]" "36i"
"0000764136" "00001847" "90" "4539" "2028" "4539" "2028" "c.4539+2028C>T" "r.[=,4539_4540ins[4539+1891_4539+2027;u;4539+2029_4540-2162]]" "p.[=,Arg1514Leufs*36]" "30i"
"0000764137" "00001847" "90" "286" "0" "286" "0" "c.286A>C" "r.286a>c" "p.(Asn96His)" "3"
"0000764138" "00001847" "10" "6148" "-89" "6148" "-89" "c.6148-89G>A" "r.6147_6148=" "p.Lys2059_Val2050=" "44i"
"0000764586" "00001847" "70" "164" "0" "164" "0" "c.164A>C" "r.(?)" "p.(His55Pro)" "3"
"0000764587" "00001847" "70" "610" "0" "610" "0" "c.610G>A" "r.(?)" "p.(Ala204Thr)" "6"
"0000764588" "00001847" "70" "868" "0" "868" "0" "c.868C>T" "r.(?)" "p.(Arg290Trp)" "8"
"0000764589" "00001847" "70" "1699" "0" "1699" "0" "c.1699G>A" "r.(?)" "p.(Val567Met)" "12"
"0000764590" "00001847" "70" "1726" "0" "1726" "0" "c.1726G>C" "r.(?)" "p.(Asp576His)" "12"
"0000764591" "00001847" "70" "1817" "0" "1817" "0" "c.1817G>A" "r.(?)" "p.(Gly606Asp)" "13"
"0000764592" "00001847" "70" "1964" "0" "1964" "0" "c.1964T>G" "r.(?)" "p.(Phe655Cys)" "14"
"0000764593" "00001847" "70" "2173" "0" "2173" "0" "c.2173C>A" "r.(?)" "p.(Leu725Ile)" "15"
"0000764594" "00001847" "70" "2297" "0" "2297" "0" "c.2297G>A" "r.(?)" "p.(Gly766Asp)" "15"
"0000764595" "00001847" "70" "2385" "0" "2385" "0" "c.2385C>G" "r.(?)" "p.(Ser795Arg)" "16"
"0000764596" "00001847" "70" "2401" "0" "2401" "0" "c.2401G>A" "r.(?)" "p.(Ala801Thr)" "16"
"0000764597" "00001847" "70" "3076" "0" "3076" "0" "c.3076T>C" "r.(?)" "p.(Phe1026Leu)" "21"
"0000764598" "00001847" "70" "3137" "0" "3137" "0" "c.3137T>G" "r.(?)" "p.(Leu1046Trp)" "21"
"0000764599" "00001847" "70" "3413" "0" "3413" "0" "c.3413T>C" "r.(?)" "p.(Leu1138Pro)" "23"
"0000764600" "00001847" "70" "4256" "0" "4256" "0" "c.4256T>C" "r.(?)" "p.(Met1419Thr)" "29"
"0000764601" "00001847" "70" "4535" "0" "4535" "0" "c.4535C>A" "r.(?)" "p.(Pro1512His)" "30"
"0000764602" "00001847" "70" "4849" "0" "4849" "0" "c.4849G>A" "r.(?)" "p.(Val1617Met)" "35"
"0000764603" "00001847" "70" "4870" "0" "4870" "0" "c.4870T>G" "r.(?)" "p.(Trp1624Gly)" "35"
"0000764604" "00001847" "70" "5026" "0" "5026" "0" "c.5026A>C" "r.(?)" "p.(Thr1676Pro)" "36"
"0000764605" "00001847" "70" "5197" "-3" "5197" "-3" "c.5197-3G>C" "r.spl?" "p.?" "36i"
"0000764606" "00001847" "70" "5700" "0" "5700" "0" "c.5700C>A" "r.(?)" "p.(Phe1900Leu)" "40"
"0000764607" "00001847" "70" "5885" "0" "5885" "0" "c.5885T>A" "r.(?)" "p.(Val1962Asp)" "42"
"0000764608" "00001847" "70" "6718" "0" "6718" "0" "c.6718A>G" "r.(?)" "p.(Thr2240Ala)" "48"
"0000764609" "00001847" "70" "5899" "-1" "5899" "-1" "c.5899-1G>A" "r.spl?" "p.?" "42i"
"0000764615" "00001847" "30" "319" "0" "319" "0" "c.319C>A" "r.(=)" "p.(=)" "4"
"0000764616" "00001847" "30" "1692" "0" "1692" "0" "c.1692A>G" "r.(=)" "p.(=)" "12"
"0000764617" "00001847" "30" "2823" "0" "2823" "0" "c.2823T>C" "r.(=)" "p.(=)" "19"
"0000764618" "00001847" "30" "4869" "0" "4869" "0" "c.4869C>G" "r.(=)" "p.(=)" "35"
"0000764619" "00001847" "30" "5318" "0" "5318" "0" "c.5318C>T" "r.(?)" "p.(Ala1773Val)" "38"
"0000764620" "00001847" "30" "5391" "0" "5391" "0" "c.5391T>C" "r.(=)" "p.(=)" "38"
"0000764621" "00001847" "30" "2383" "-13" "2383" "-13" "c.2383-13T>C" "r.spl?" "p.?" "15i"
"0000764622" "00001847" "30" "3607" "46" "3607" "46" "c.3607+46A>T" "r.spl?" "p.?" "24i"
"0000764623" "00001847" "30" "5018" "8" "5018" "8" "c.5018+8G>A" "r.spl?" "p.?" "35i"
"0000764624" "00001847" "30" "5715" "-35" "5715" "-35" "c.5715-35A>C" "r.(=)" "p.(=)" "40i"
"0000764625" "00001847" "30" "6479" "29" "6479" "29" "c.6479+29T>C" "r.(=)" "p.(=)" "47i"
"0000764626" "00001847" "30" "0" "0" "0" "0" "c.?" "r.?" "p.?" ""
"0000764909" "00001847" "70" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.spl" "p.?" ""
"0000764917" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.(Gly863Ala)" ""
"0000764925" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" ""
"0000764926" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" ""
"0000764935" "00001847" "70" "5311" "0" "5311" "0" "c.5311G>A" "r.(?)" "p.(Gly1771Arg)" ""
"0000764938" "00001847" "70" "3898" "0" "3898" "0" "c.3898C>T" "r.(?)" "p.(Arg1300Ter)" ""
"0000764945" "00001847" "70" "4253" "4" "4253" "4" "c.4253+4C>T" "r.spl" "p.?" ""
"0000764946" "00001847" "70" "1643" "0" "1643" "0" "c.1643G>A" "r.(?)" "p.(Trp548Ter)" ""
"0000765749" "00001847" "70" "5391" "0" "5392" "0" "c.5391_5392del" "r.(?)" "p.(Ala1798Ter)" ""
"0000765750" "00001847" "70" "4867" "0" "4867" "0" "c.4867G>C" "r.(?)" "p.(Gly1623Arg)" ""
"0000765752" "00001847" "70" "1630" "0" "1633" "0" "c.1630_1633dup" "r.(?)" "p.(Asn545ArgfsTer12)" ""
"0000765758" "00001847" "70" "1630" "0" "1633" "0" "c.1630_1633dup" "r.(?)" "p.(Asn545ArgfsTer12)" ""
"0000765796" "00001847" "70" "2815" "0" "2815" "0" "c.2815G>T" "r.(?)" "p.(Glu939Ter)" ""
"0000765816" "00001847" "70" "1630" "0" "1633" "0" "c.1630_1633dup" "r.(?)" "p.(Asn545ArgfsTer12)" ""
"0000765826" "00001847" "70" "1532" "0" "1532" "0" "c.1532G>A" "r.(?)" "p.(Arg511His)" ""
"0000765838" "00001847" "70" "1140" "0" "1140" "0" "c.1140T>A" "r.(?)" "p.(Asn380Lys)" ""
"0000765877" "00001847" "70" "6286" "0" "6286" "0" "c.6286G>A" "r.(?)" "p.(Glu2096Lys)" ""
"0000765895" "00001847" "70" "4852" "0" "4852" "0" "c.4852T>A" "r.(?)" "p.(Trp1618Arg)" ""
"0000765897" "00001847" "70" "4867" "0" "4867" "0" "c.4867G>C" "r.(?)" "p.(Gly1623Arg)" ""
"0000765912" "00001847" "70" "5391" "0" "5392" "0" "c.5391_5392del" "r.(?)" "p.(Ala1798Ter)" ""
"0000765919" "00001847" "70" "2294" "0" "2294" "0" "c.2294G>A" "r.(?)" "p.(Ser765Asn)" ""
"0000765925" "00001847" "70" "5642" "0" "5642" "0" "c.5642C>G" "r.(?)" "p.(Ala1881Gly)" ""
"0000765926" "00001847" "70" "2690" "0" "2690" "0" "c.2690C>T" "r.(?)" "p.(Thr897Ile)" ""
"0000765927" "00001847" "70" "1615" "0" "1615" "0" "c.1615del" "r.(?)" "p.(Leu539SerfsTer29)" ""
"0000766083" "00001847" "70" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" "31"
"0000766084" "00001847" "90" "2424" "0" "2424" "0" "c.2424C>G" "r.(?)" "p.(Tyr808*)" "16"
"0000766085" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000766086" "00001847" "70" "1531" "0" "1531" "0" "c.1531C>T" "r.(?)" "p.(Arg511Cys)" "11"
"0000766087" "00001847" "70" "3482" "0" "3482" "0" "c.3482G>A" "r.(?)" "p.(Arg1161His)" "23"
"0000766088" "00001847" "90" "4204" "0" "4204" "0" "c.4204del" "r.(?)" "p.(Ala1402Leufs*2)" "28"
"0000766089" "00001847" "90" "2424" "0" "2424" "0" "c.2424C>G" "r.(?)" "p.(Tyr808*)" "16"
"0000766090" "00001847" "70" "1937" "5" "1937" "5" "c.1937+5G>A" "r.1806_1937del" "p.(Tyr603_Ser646del)" "13i"
"0000766091" "00001847" "50" "1522" "0" "1522" "0" "c.1522C>T" "r.(?)" "p.(Arg508Cys)" "11"
"0000766092" "00001847" "50" "101" "0" "106" "0" "c.101_106del" "r.(?)" "p.(Ser34_Leu35del)" "2"
"0000766093" "00001847" "70" "1229" "0" "1229" "0" "c.1229T>C" "r.(?)" "p.(Ile410Thr)" "9"
"0000766094" "00001847" "90" "2424" "0" "2424" "0" "c.2424C>G" "r.(?)" "p.(Tyr808*)" "16"
"0000766095" "00001847" "70" "5327" "0" "5327" "0" "c.5327C>T" "r.(?)" "p.(Pro1776Leu)" "38"
"0000766096" "00001847" "90" "1561" "0" "1561" "0" "c.1561del" "r.(?)" "p.(Val521Serfs*47)" "12"
"0000766097" "00001847" "70" "5318" "0" "5318" "0" "c.5318C>T" "r.(?)" "p.(Ala1773Val)" "38"
"0000766098" "00001847" "70" "3364" "0" "3364" "0" "c.3364G>A" "r.(?)" "p.(Glu1122Lys)" "23"
"0000766099" "00001847" "90" "5095" "0" "5095" "0" "c.5095del" "r.(?)" "p.L1699FfsTer3" "36"
"0000766100" "00001847" "90" "2424" "0" "2424" "0" "c.2424C>G" "r.(?)" "p.(Tyr808*)" "16"
"0000766101" "00001847" "90" "2587" "0" "2587" "7" "c.2587_2587+7del" "r.(?)" "p.(Gly863Glufs*38)" "16_16i"
"0000766102" "00001847" "50" "101" "0" "106" "0" "c.101_106del" "r.(?)" "p.(Ser34_Leu35del)" "2"
"0000766103" "00001847" "70" "872" "0" "872" "0" "c.872C>T" "r.(?)" "p.(Pro291Leu)" "8"
"0000766104" "00001847" "70" "983" "0" "983" "0" "c.983A>T" "r.(?)" "p.(Glu328Val)" "8"
"0000766105" "00001847" "90" "2424" "0" "2424" "0" "c.2424C>G" "r.(?)" "p.(Tyr808*)" "16"
"0000766106" "00001847" "70" "1609" "0" "1609" "0" "c.1609C>T" "r.(?)" "p.(Arg537Cys)" "12"
"0000766107" "00001847" "50" "101" "0" "106" "0" "c.101_106del" "r.(?)" "p.(Ser34_Leu35del)" "2"
"0000766108" "00001847" "50" "4771" "0" "4771" "0" "c.4771G>A" "r.(?)" "p.(Gly1591Arg)" "33"
"0000766109" "00001847" "70" "3476" "0" "3476" "0" "c.3476T>C" "r.(?)" "p.(Leu1159Ser)" "23"
"0000766110" "00001847" "90" "5836" "-2" "5836" "-2" "c.5836-2A>G" "r.spl" "p.?" "41i"
"0000766111" "00001847" "90" "553" "0" "553" "0" "c.553C>T" "r.(?)" "p.(Gln185*)" "5"
"0000766112" "00001847" "70" "3389" "0" "3389" "0" "c.3389T>C" "r.(?)" "p.(Ile1130Thr)" "23"
"0000766113" "00001847" "70" "6563" "0" "6563" "0" "c.6563T>C" "r.(?)" "p.(Phe2188Ser)" "48"
"0000766114" "00001847" "90" "858" "2" "858" "2" "c.858+2T>A" "r.spl" "p.?" "7i"
"0000766115" "00001847" "90" "4359" "0" "4359" "0" "c.4359C>A" "r.(?)" "p.(Tyr1453*)" "30"
"0000766116" "00001847" "90" "1561" "0" "1561" "0" "c.1561del" "r.(?)" "p.(Val521Serfs*47)" "12"
"0000766117" "00001847" "70" "719" "0" "719" "0" "c.719T>G" "r.(?)" "p.(Ile240Arg)" "6"
"0000766118" "00001847" "90" "6088" "0" "6088" "0" "c.6088C>T" "r.(?)" "p.(Arg2030*)" "44"
"0000766119" "00001847" "90" "240" "0" "241" "0" "c.240_241del" "r.(?)" "p.(Cys81Phefs*17)" "3"
"0000766120" "00001847" "70" "4253" "4" "4253" "4" "c.4253+4C>T" "r.4129_4253del" "p.(Ile1377Hisfs*3)" "28i"
"0000766121" "00001847" "90" "3191" "-1" "3191" "-1" "c.3191-1G>T" "r.spl" "p.?" "21i"
"0000766122" "00001847" "70" "4919" "0" "4919" "0" "c.4919G>A" "r.(?)" "p.(Arg1640Gln)" "35"
"0000766123" "00001847" "90" "2424" "0" "2424" "0" "c.2424C>G" "r.(?)" "p.(Tyr808*)" "16"
"0000766124" "00001847" "70" "53" "0" "53" "0" "c.53G>C" "r.(?)" "p.(Arg18Pro)" "1"
"0000766125" "00001847" "90" "1561" "0" "1561" "0" "c.1561del" "r.(?)" "p.(Val521Serfs*47)" "12"
"0000766126" "00001847" "70" "1778" "0" "1778" "0" "c.1778C>T" "r.(?)" "p.(Pro593Leu)" "13"
"0000766127" "00001847" "70" "3323" "0" "3323" "0" "c.3323G>A" "r.(?)" "p.(Arg1108His)" "22"
"0000766128" "00001847" "90" "2424" "0" "2424" "0" "c.2424C>G" "r.(?)" "p.(Tyr808*)" "16"
"0000766129" "00001847" "70" "983" "0" "983" "0" "c.983A>T" "r.(?)" "p.(Glu328Val)" "8"
"0000766130" "00001847" "90" "1561" "0" "1561" "0" "c.1561del" "r.(?)" "p.(Val521Serfs*47)" "12"
"0000766131" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000766132" "00001847" "70" "4532" "0" "4532" "0" "c.4532C>A" "r.(?)" "p.(Pro1511His)" "30"
"0000766133" "00001847" "90" "2424" "0" "2424" "0" "c.2424C>G" "r.(?)" "p.(Tyr808*)" "16"
"0000766134" "00001847" "90" "1099" "1" "1099" "1" "c.1099+1G>A" "r.spl" "p.?" "8i"
"0000766135" "00001847" "90" "2424" "0" "2424" "0" "c.2424C>G" "r.(?)" "p.(Tyr808*)" "16"
"0000766136" "00001847" "90" "1561" "0" "1561" "0" "c.1561del" "r.(?)" "p.(Val521Serfs*47)" "12"
"0000766137" "00001847" "70" "3220" "0" "3220" "0" "c.3220A>C" "r.(?)" "p.(Ile1074Leu)" "22"
"0000766138" "00001847" "50" "1933" "0" "1933" "0" "c.1933G>A" "r.(?)" "p.(Asp645Asn)" "13"
"0000766139" "00001847" "70" "6125" "0" "6125" "0" "c.6125T>G" "r.(?)" "p.(Val2042Gly)" "44"
"0000766140" "00001847" "70" "2447" "0" "2447" "0" "c.2447G>T" "r.(?)" "p.(Gly816Val)" "16"
"0000766141" "00001847" "70" "215" "0" "215" "0" "c.215G>T" "r.(?)" "p.(Gly72Val)" "3"
"0000766142" "00001847" "70" "3364" "0" "3364" "0" "c.3364G>A" "r.(?)" "p.(Glu1122Lys)" "23"
"0000766143" "00001847" "70" "2382" "0" "2382" "0" "c.2382G>C" "r.spl?" "p.(Val794=,?)" "15"
"0000766144" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000766145" "00001847" "70" "290" "0" "290" "0" "c.290A>G" "r.(?)" "p.(Tyr97Cys)" "3"
"0000766146" "00001847" "70" "1531" "0" "1531" "0" "c.1531C>T" "r.(?)" "p.(Arg511Cys)" "11"
"0000766147" "00001847" "50" "6190" "0" "6190" "0" "c.6190G>A" "r.(?)" "p.(Ala2064Thr)" "45"
"0000766148" "00001847" "70" "42" "0" "42" "0" "c.42C>A" "r.(?)" "p.(Asn14Lys)" "1"
"0000766149" "00001847" "90" "3056" "0" "3056" "0" "c.3056C>T" "r.(?)" "p.(Thr1019Met)" "21"
"0000766150" "00001847" "70" "983" "0" "983" "0" "c.983A>T" "r.(?)" "p.(Glu328Val)" "8"
"0000766151" "00001847" "70" "53" "0" "53" "0" "c.53G>C" "r.(?)" "p.(Arg18Pro)" "1"
"0000766152" "00001847" "90" "3525" "0" "3525" "0" "c.3525del" "r.(?)" "p.(Thr1176Profs*20)" "24"
"0000766153" "00001847" "70" "3482" "0" "3482" "0" "c.3482G>A" "r.(?)" "p.(Arg1161His)" "23"
"0000766154" "00001847" "70" "1034" "0" "1034" "0" "c.1034A>C" "r.(?)" "p.(Tyr345Ser)" "8"
"0000766155" "00001847" "90" "1561" "0" "1561" "0" "c.1561del" "r.(?)" "p.(Val521Serfs*47)" "12"
"0000766156" "00001847" "70" "2261" "0" "2261" "0" "c.2261T>C" "r.(?)" "p.(Phe754Ser)" "15"
"0000766157" "00001847" "90" "2424" "0" "2424" "0" "c.2424C>G" "r.(?)" "p.(Tyr808*)" "16"
"0000766158" "00001847" "70" "1958" "0" "1958" "0" "c.1958G>A" "r.(?)" "p.(Arg653His)" "14"
"0000766159" "00001847" "50" "101" "0" "106" "0" "c.101_106del" "r.(?)" "p.(Ser34_Leu35del)" "2"
"0000766160" "00001847" "70" "1555" "0" "1555" "0" "c.1555T>C" "r.(?)" "p.(Cys519Arg,?)" "12"
"0000766161" "00001847" "90" "1561" "0" "1561" "0" "c.1561del" "r.(?)" "p.(Val521Serfs*47)" "12"
"0000766162" "00001847" "90" "2424" "0" "2424" "0" "c.2424C>G" "r.(?)" "p.(Tyr808*)" "16"
"0000766163" "00001847" "90" "4773" "1" "4773" "1" "c.4773+1G>T" "r.spl" "p.?" "33i"
"0000766164" "00001847" "70" "983" "0" "983" "0" "c.983A>T" "r.(?)" "p.(Glu328Val)" "8"
"0000766165" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000766166" "00001847" "90" "517" "0" "517" "0" "c.517del" "r.(?)" "p.(Leu173Cysfs*9)" "5"
"0000766167" "00001847" "90" "2424" "0" "2424" "0" "c.2424C>G" "r.(?)" "p.(Tyr808*)" "16"
"0000766168" "00001847" "90" "2893" "0" "2893" "0" "c.2893A>T" "r.(?)" "p.(Asn965Tyr)" "19"
"0000766169" "00001847" "70" "983" "0" "983" "0" "c.983A>T" "r.(?)" "p.(Glu328Val)" "8"
"0000766170" "00001847" "50" "5653" "0" "5653" "0" "c.5653G>A" "r.(?)" "p.(Glu1885Lys)" "40"
"0000766171" "00001847" "70" "1808" "0" "1808" "0" "c.1808A>G" "r.(?)" "p.(Tyr603Cys)" "13"
"0000766172" "00001847" "70" "6563" "0" "6563" "0" "c.6563T>C" "r.(?)" "p.(Phe2188Ser)" "48"
"0000766173" "00001847" "90" "2063" "0" "2063" "0" "c.2063dup" "r.(?)" "p.(Asn688Lysfs*78)" "14"
"0000766174" "00001847" "70" "3065" "0" "3065" "0" "c.3065A>G" "r.(?)" "p.(Glu1022Gly)" "21"
"0000766175" "00001847" "70" "4253" "5" "4253" "5" "c.4253+5G>A" "r.4129_4253del" "p.(Ile1377Hisfs*3)" "28i"
"0000766176" "00001847" "70" "5762" "0" "5762" "0" "c.5762T>G" "r.(?)" "p.(Val1921Gly)" "41"
"0000766177" "00001847" "90" "4948" "0" "4948" "0" "c.4948G>T" "r.(?)" "p.(Glu1650*)" "35"
"0000766178" "00001847" "50" "101" "0" "106" "0" "c.101_106del" "r.(?)" "p.(Ser34_Leu35del)" "2"
"0000766179" "00001847" "90" "4667" "1" "4667" "1" "c.4667+1G>T" "r.spl" "p.?" "32i"
"0000766180" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000766181" "00001847" "90" "2055" "0" "2055" "0" "c.2055del" "r.(?)" "p.(Leu686*)" "14"
"0000766182" "00001847" "70" "5318" "0" "5318" "0" "c.5318C>T" "r.(?)" "p.(Ala1773Val)" "38"
"0000766183" "00001847" "90" "3813" "1" "3813" "1" "c.3813+1G>A" "r.spl" "p.?" "25i"
"0000766184" "00001847" "70" "959" "0" "959" "0" "c.959C>G" "r.(?)" "p.(Ser320Cys)" "8"
"0000766185" "00001847" "90" "2424" "0" "2424" "0" "c.2424C>G" "r.(?)" "p.(Tyr808*)" "16"
"0000766186" "00001847" "50" "164" "0" "164" "0" "c.164A>G" "r.(?)" "p.(His55Arg)" "3"
"0000766187" "00001847" "70" "1531" "0" "1531" "0" "c.1531C>T" "r.(?)" "p.(Arg511Cys)" "11"
"0000766188" "00001847" "90" "157" "0" "157" "0" "c.157G>T" "r.(?)" "p.(Glu53*)" "2"
"0000766189" "00001847" "90" "1814" "0" "1814" "0" "c.1814G>A" "r.(?)" "p.(Trp605*)" "13"
"0000766190" "00001847" "50" "1522" "0" "1522" "0" "c.1522C>T" "r.(?)" "p.(Arg508Cys)" "11"
"0000766191" "00001847" "50" "6119" "0" "6119" "0" "c.6119G>A" "r.(?)" "p.(Arg2040Gln)" "44"
"0000766192" "00001847" "70" "187" "0" "187" "0" "c.187T>C" "r.(?)" "p.(Ser63Pro)" "3"
"0000766193" "00001847" "70" "53" "0" "53" "0" "c.53G>C" "r.(?)" "p.(Arg18Pro)" "1"
"0000766194" "00001847" "90" "1561" "0" "1561" "0" "c.1561del" "r.(?)" "p.(Val521Serfs*47)" "12"
"0000766195" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000766196" "00001847" "70" "6437" "0" "6437" "0" "c.6437G>A" "r.(?)" "p.(Gly2146Asp)" "47"
"0000766197" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000766198" "00001847" "50" "101" "0" "106" "0" "c.101_106del" "r.(?)" "p.(Ser34_Leu35del)" "2"
"0000766199" "00001847" "70" "4508" "0" "4508" "0" "c.4508C>T" "r.(?)" "p.(Pro1503Leu)" "30"
"0000766200" "00001847" "70" "4508" "0" "4508" "0" "c.4508C>T" "r.(?)" "p.(Pro1503Leu)" "30"
"0000766201" "00001847" "50" "2023" "0" "2023" "0" "c.2023G>A" "r.(?)" "p.(Val675Ile)" "14"
"0000766202" "00001847" "90" "4234" "0" "4234" "0" "c.4234C>T" "r.(?)" "p.(Gln1412*)" "28"
"0000766203" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000766204" "00001847" "70" "5512" "0" "5512" "0" "c.5512C>G" "r.(?)" "p.(His1838Asp)" "39"
"0000766205" "00001847" "70" "6746" "0" "6746" "0" "c.6746C>A" "r.(?)" "p.(Ala2249Asp)" "49"
"0000766206" "00001847" "70" "1822" "0" "1822" "0" "c.1822T>A" "r.(?)" "p.(Phe608Ile)" "3"
"0000766207" "00001847" "70" "1253" "0" "1253" "0" "c.1253T>C" "r.(?)" "p.(Phe418Ser)" "10"
"0000766208" "00001847" "70" "52" "0" "52" "0" "c.52C>T" "r.(?)" "p.(Arg18Trp)" "1"
"0000766209" "00001847" "70" "5509" "0" "5509" "0" "c.5509C>A" "r.(?)" "p.(Pro1837Thr)" "39"
"0000766210" "00001847" "50" "1654" "0" "1654" "0" "c.1654G>A" "r.(?)" "p.(Val552Ile)" "12"
"0000766211" "00001847" "90" "1309" "0" "1309" "0" "c.1309del" "r.(?)" "p.Gln437Argfs*12" "10"
"0000766212" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000766213" "00001847" "90" "206" "0" "206" "0" "c.206G>A" "r.(?)" "p.(Trp69*)" "3"
"0000766214" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000766215" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.[(768g>u;768_769ins768+1_768+35)]" "p.(Leu257Valfs*17)" "6"
"0000766216" "00001847" "90" "1830" "0" "1830" "0" "c.1830T>A" "r.(?)" "p.(Tyr610*)" "13"
"0000766217" "00001847" "50" "2401" "0" "2401" "0" "c.2401G>A" "r.(?)" "p.(Ala801Thr)" "16"
"0000766218" "00001847" "70" "4462" "0" "4462" "0" "c.4462T>C" "r.(?)" "p.(Cys1488Arg)" "30"
"0000766219" "00001847" "90" "45" "0" "45" "0" "c.45G>A" "r.(?)" "p.(Trp15*)" "1"
"0000766220" "00001847" "70" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" "35"
"0000766221" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000766222" "00001847" "70" "4462" "0" "4462" "0" "c.4462T>C" "r.(?)" "p.(Cys1488Arg)" "30"
"0000766223" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000766224" "00001847" "70" "3272" "0" "3272" "0" "c.3272G>A" "r.(?)" "p.(Gly1091Glu)" "22"
"0000766225" "00001847" "50" "4195" "0" "4195" "0" "c.4195G>A" "r.(?)" "p.(Glu1399Lys)" "28"
"0000766227" "00001847" "50" "2401" "0" "2401" "0" "c.2401G>A" "r.(?)" "p.(Ala801Thr)" "16"
"0000766228" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000766229" "00001847" "70" "5512" "0" "5512" "0" "c.5512C>G" "r.(?)" "p.(His1838Asp)" "39"
"0000766230" "00001847" "70" "194" "0" "194" "0" "c.194G>A" "r.(?)" "p.(Gly65Glu)" "3"
"0000766231" "00001847" "70" "1411" "0" "1411" "0" "c.1411G>C" "r.(?)" "p.(Glu471Gln)" "11"
"0000766232" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000766233" "00001847" "90" "4234" "0" "4234" "0" "c.4234C>T" "r.(?)" "p.(Gln1412*)" "28"
"0000766234" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000766235" "00001847" "90" "4537" "0" "4537" "0" "c.4537dup" "r.(?)" "p.(Gln1513Profs*42)" "30"
"0000766236" "00001847" "50" "4195" "0" "4195" "0" "c.4195G>A" "r.(?)" "p.(Glu1399Lys)" "28"
"0000766237" "00001847" "90" "5189" "0" "5189" "0" "c.5189G>A" "r.(?)" "p.(Trp1730*)" "36"
"0000766238" "00001847" "90" "1937" "1" "1937" "1" "c.1937+1G>A" "r.spl" "p.?" "13i"
"0000766239" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000766240" "00001847" "90" "5172" "0" "5172" "0" "c.5172G>A" "r.(?)" "p.(Trp1724*)" "36"
"0000766241" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000766242" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000766243" "00001847" "90" "3468" "0" "3468" "0" "c.3468C>G" "r.(?)" "p.(Tyr1156*)" "23"
"0000766244" "00001847" "90" "3098" "0" "3098" "0" "c.3098del" "r.(?)" "p.(Lys1033Serfs*51)" "21"
"0000766245" "00001847" "90" "3212" "0" "3212" "0" "c.3212C>T" "r.(?)" "p.(Ser1071Leu)" "22"
"0000766246" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000766247" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.[(768g>u;768_769ins768+1_768+35)]" "p.(Leu257Valfs*17)" "6"
"0000766248" "00001847" "70" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" "44"
"0000766249" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000766250" "00001847" "90" "3871" "0" "3871" "0" "c.3871C>T" "r.(?)" "p.(Gln1291*)" "27"
"0000766252" "00001847" "90" "2919" "-1" "3328" "1" "c.(2918+1_2919-1)_(3328+1_3329-1)del" "r.(?)" "p.(Ser974Glnfs*64)" "19i_22i"
"0000766253" "00001847" "70" "1822" "0" "1822" "0" "c.1822T>A" "r.(?)" "p.(Phe608Ile)" "13"
"0000766254" "00001847" "70" "2948" "0" "2948" "0" "c.2948C>T" "r.(?)" "p.(Thr983Ile)" "20"
"0000766255" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000766256" "00001847" "70" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" "44"
"0000766257" "00001847" "70" "1807" "0" "1807" "0" "c.1807T>C" "r.(?)" "p.(Tyr603His)" "13"
"0000766258" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000766259" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000766260" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000766261" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000766262" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000766263" "00001847" "70" "6112" "0" "6112" "0" "c.6112C>T" "r.(?)" "p.(Arg2038Trp)" "44"
"0000766264" "00001847" "90" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071Cysfs*14)" "22"
"0000766265" "00001847" "90" "4234" "0" "4234" "0" "c.4234C>T" "r.(?)" "p.(Gln1412*)" "28"
"0000766266" "00001847" "90" "741" "0" "744" "0" "c.741_744del" "r.(?)" "p.(Asn247Lysfs*14)" "6"
"0000766267" "00001847" "50" "1792" "0" "1792" "0" "c.1792G>A" "r.(?)" "p.(Val598Met)" "13"
"0000766268" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000766269" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000766270" "00001847" "90" "2041" "0" "2041" "0" "c.2041C>T" "r.(?)" "p.(Arg681*)" "14"
"0000766271" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000766272" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000766273" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000766274" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.[(768g>u;768_769ins768+1_768+35)]" "p.(Leu257Valfs*17)" "6"
"0000766275" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000766276" "00001847" "90" "470" "0" "470" "0" "c.470T>A" "r.(?)" "p.(Leu157*)" "5"
"0000766277" "00001847" "70" "2549" "0" "2549" "0" "c.2549A>G" "r.(?)" "p.(Tyr850Cys)" "16"
"0000766278" "00001847" "70" "4468" "0" "4468" "0" "c.4468T>C" "r.(?)" "p.(Cys1490Arg)" "30"
"0000766279" "00001847" "70" "4854" "0" "4854" "0" "c.4854G>T" "r.(?)" "p.(Trp1618Cys)" "35"
"0000766280" "00001847" "70" "872" "0" "872" "0" "c.872C>T" "r.(?)" "p.(Pro291Leu)" "8"
"0000766281" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000766282" "00001847" "90" "2626" "0" "2626" "0" "c.2626C>T" "r.(?)" "p.(Gln876*)" "17"
"0000766283" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000766284" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.[(768g>u;768_769ins768+1_768+35)]" "p.(Leu257Valfs*17)" "6"
"0000766285" "00001847" "90" "5196" "2" "5196" "2" "c.5196+2T>C" "r.spl" "p.?" "36i"
"0000766286" "00001847" "70" "214" "0" "214" "0" "c.214G>A" "r.(?)" "p.(Gly72Arg)" "3"
"0000766287" "00001847" "70" "2255" "0" "2255" "0" "c.2255G>A" "r.(?)" "p.(Ser752Asn)" "15"
"0000766288" "00001847" "90" "3871" "0" "3871" "0" "c.3871C>T" "r.(?)" "p.(Gln1291*)" "27"
"0000766289" "00001847" "70" "872" "0" "872" "0" "c.872C>T" "r.(?)" "p.(Pro291Leu)" "8"
"0000766290" "00001847" "70" "6215" "0" "6215" "0" "c.6215G>A" "r.(?)" "p.(Ser2072Asn)" "45"
"0000766291" "00001847" "70" "6215" "0" "6215" "0" "c.6215G>A" "r.(?)" "p.(Ser2072Asn)" "45"
"0000766292" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000766293" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000766294" "00001847" "70" "4773" "3" "4773" "3" "c.4773+3A>G" "r.[4668_4773del,=]" "p.[Tyr1557Alafs*18,=]" "33i"
"0000766295" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000766296" "00001847" "90" "2345" "0" "2345" "0" "c.2345G>A" "r.(?)" "p.(Trp782*)" "15"
"0000766297" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000766298" "00001847" "70" "2888" "0" "2888" "0" "c.2888G>T" "r.(?)" "p.(Gly963Val)" "19"
"0000766299" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000766300" "00001847" "90" "1714" "0" "1714" "0" "c.1714C>T" "r.(?)" "p.(Arg572*)" "12"
"0000766301" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000766302" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000766303" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000766304" "00001847" "90" "5196" "1" "5196" "1" "c.5196+1G>A" "r.spl" "p.?" "36i"
"0000766305" "00001847" "70" "2461" "0" "2461" "0" "c.2461T>A" "r.(?)" "p.(Trp821Arg)" "16"
"0000766306" "00001847" "90" "4667" "1" "4667" "1" "c.4667+1G>A" "r.spl" "p.?" "32i"
"0000766307" "00001847" "70" "286" "0" "286" "0" "c.286A>G" "r.(?)" "p.(Asn96Asp)" "3"
"0000766308" "00001847" "90" "6537" "0" "6537" "0" "c.6537del" "r.(?)" "p.(Pro2180Leufs*3)" "48"
"0000766309" "00001847" "50" "2791" "0" "2791" "0" "c.2791G>A" "r.(?)" "p.(Val931Met)" "19"
"0000766310" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000766311" "00001847" "90" "4667" "1" "4667" "1" "c.4667+1G>A" "r.spl" "p.?" "32i"
"0000766312" "00001847" "70" "2461" "0" "2461" "0" "c.2461T>A" "r.(?)" "p.(Trp821Arg)" "16"
"0000766313" "00001847" "90" "1714" "0" "1714" "0" "c.1714C>T" "r.(?)" "p.(Arg572*)" "12"
"0000766314" "00001847" "70" "4919" "0" "4919" "0" "c.4919G>A" "r.(?)" "p.(Arg1640Gln)" "35"
"0000766315" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.[(768g>u;768_769ins768+1_768+35)]" "p.(Leu257Valfs*17)" "6"
"0000766316" "00001847" "90" "4352" "1" "4352" "1" "c.4352+1G>A" "r.spl" "p.?" "29i"
"0000766317" "00001847" "70" "288" "0" "288" "0" "c.288C>A" "r.(?)" "p.(Asn96Lys)" "3"
"0000766318" "00001847" "70" "288" "0" "288" "0" "c.288C>A" "r.(?)" "p.(Asn96Lys)" "3"
"0000766319" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000766320" "00001847" "70" "2461" "0" "2461" "0" "c.2461T>A" "r.(?)" "p.(Trp821Arg)" "16"
"0000766321" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000766322" "00001847" "90" "571" "-2" "571" "-2" "c.571-2A>T" "r.spl" "p.?" "5i"
"0000766323" "00001847" "90" "5018" "2" "5018" "2" "c.5018+2T>C" "r.spl" "p.?" "35i"
"0000766324" "00001847" "90" "5018" "2" "5018" "2" "c.5018+2T>C" "r.spl" "p.?" "35i"
"0000766325" "00001847" "70" "2887" "0" "2887" "0" "c.2887G>C" "r.(?)" "p.(Gly963Arg)" "19"
"0000766326" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000766327" "00001847" "90" "571" "-2" "571" "-2" "c.571-2A>T" "r.spl" "p.?" "5i"
"0000766328" "00001847" "90" "4539" "2064" "4539" "2064" "c.4539+2064C>T" "r.[=,4539_4540ins4539+1891_4540-2162]" "p.[=,Arg1514Leufs*36]" "30i"
"0000766329" "00001847" "90" "1344" "0" "1344" "0" "c.1344del" "r.(?)" "p.(Met448Ilefs*3)" "10"
"0000766330" "00001847" "70" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.[=,5196_5197ins5196+1140_5196+1212]" "p.[=,Met1733Glufs*78]" "36i"
"0000766331" "00001847" "70" "4253" "43" "4253" "43" "c.4253+43G>A" "r.[=,4129_4253del]" "p.[=,Ile1377Hisfs*3]" "28i"
"0000766332" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000766333" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000766334" "00001847" "90" "4539" "2064" "4539" "2064" "c.4539+2064C>T" "r.[=,4539_4540ins4539+1891_4540-2162]" "p.[=,Arg1514Leufs*36]" "30i"
"0000766335" "00001847" "90" "4539" "2064" "4539" "2064" "c.4539+2064C>T" "r.[=,4539_4540ins4539+1891_4540-2162]" "p.[=,Arg1514Leufs*36]" "30i"
"0000766336" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000766337" "00001847" "70" "4253" "43" "4253" "43" "c.4253+43G>A" "r.[=,4129_4253del]" "p.[=,Ile1377Hisfs*3]" "28i"
"0000766338" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000766339" "00001847" "70" "688" "0" "688" "0" "c.688T>G" "r.(?)" "p.(Cys230Gly)" "6"
"0000766340" "00001847" "70" "686" "0" "686" "0" "c.686T>C" "r.(?)" "p.(Leu229Pro)" "6"
"0000766341" "00001847" "70" "4253" "43" "4253" "43" "c.4253+43G>A" "r.[=,4129_4253del]" "p.[=,Ile1377Hisfs*3]" "28i"
"0000766342" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000766343" "00001847" "50" "768" "508" "768" "508" "c.768+508A>G" "r.spl?" "p.(?)" "6i"
"0000766344" "00001847" "50" "859" "-245" "859" "-243" "c.859-245_859-243delinsTGA" "r.(?)" "p.(?)" "7i"
"0000766345" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000766346" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000766347" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000766348" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000766349" "00001847" "50" "6721" "0" "6721" "0" "c.6721C>G" "r.(?)" "p.(Leu2241Val)" "48"
"0000766350" "00001847" "90" "1988" "0" "1988" "0" "c.1988G>A" "r.(?)" "p.(Trp663*)" "14"
"0000766351" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000766352" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.[(768g>u;768_769ins768+1_768+35)]" "p.(Leu257Valfs*17)" "6"
"0000766353" "00001847" "70" "688" "0" "688" "0" "c.688T>A" "r.(?)" "p.(Cys230Ser)" "6"
"0000766354" "00001847" "50" "5692" "0" "5692" "0" "c.5692C>T" "r.(?)" "p.(Arg1898Cys)" "40"
"0000766355" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000766356" "00001847" "90" "1819" "0" "1819" "0" "c.1819G>A" "r.(?)" "p.(Gly607Arg)" "13"
"0000766357" "00001847" "70" "178" "0" "178" "0" "c.178G>A" "r.(?)" "p.(Ala60Thr)" "3"
"0000766358" "00001847" "50" "1411" "0" "1411" "0" "c.1411G>A" "r.(?)" "p.(Glu471Lys)" "11"
"0000766359" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000766360" "00001847" "50" "5692" "0" "5692" "0" "c.5692C>T" "r.(?)" "p.(Arg1898Cys)" "40"
"0000766361" "00001847" "70" "203" "0" "203" "0" "c.203C>T" "r.(?)" "p.(Pro68Leu)" "3"
"0000766362" "00001847" "50" "4195" "0" "4195" "0" "c.4195G>A" "r.(?)" "p.(Glu1399Lys)" "28"
"0000766363" "00001847" "70" "4318" "0" "4318" "0" "c.4318T>G" "r.(?)" "p.(Phe1440Val)" "29"
"0000766364" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000766365" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000766366" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000766367" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000766368" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000766369" "00001847" "50" "4195" "0" "4195" "0" "c.4195G>A" "r.(?)" "p.(Glu1399Lys)" "28"
"0000766370" "00001847" "70" "5288" "0" "5288" "0" "c.5288T>C" "r.(?)" "p.(Leu1763Pro)" "37"
"0000766371" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000766372" "00001847" "90" "2041" "0" "2041" "0" "c.2041C>T" "r.(?)" "p.(Arg681*)" "14"
"0000766373" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000766374" "00001847" "90" "4234" "0" "4234" "0" "c.4234C>T" "r.(?)" "p.(Gln1412*)" "28"
"0000766375" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.[(768g>u;768_769ins768+1_768+35)]" "p.(Leu257Valfs*17)" "6"
"0000766376" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000766377" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000766378" "00001847" "90" "1715" "0" "1715" "0" "c.1715G>A" "r.(?)" "p.(Arg572Gln)" "12"
"0000766379" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000766380" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000766381" "00001847" "70" "740" "0" "740" "0" "c.740A>G" "r.(?)" "p.(Asn247Ser)" "6"
"0000766382" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000766383" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000766384" "00001847" "90" "4234" "0" "4234" "0" "c.4234C>T" "r.(?)" "p.(Gln1412*)" "28"
"0000766385" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000766386" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000766387" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000766388" "00001847" "70" "3385" "0" "3385" "0" "c.3385C>T" "r.(?)" "p.(Arg1129Cys)" "23"
"0000766389" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000766390" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000766391" "00001847" "70" "2915" "0" "2915" "0" "c.2915C>A" "r.(?)" "p.(Thr972Asn)" "19"
"0000766392" "00001847" "70" "5843" "0" "5844" "0" "c.5843_5844delinsTG" "r.(?)" "p.(Pro1948Leu)" "42"
"0000766393" "00001847" "70" "5843" "0" "5844" "0" "c.5843_5844delinsTG" "r.(?)" "p.(Pro1948Leu)" "42"
"0000766394" "00001847" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.(?)" "38"
"0000766395" "00001847" "50" "5451" "0" "5451" "0" "c.5451G>T" "r.(?)" "p.(Glu1817Asp)" "38"
"0000766396" "00001847" "50" "5693" "0" "5693" "0" "c.5693G>A" "r.(?)" "p.(Arg1898His)" "40"
"0000766397" "00001847" "70" "6449" "0" "6449" "0" "c.6449G>A" "r.(?)" "p.(Cys2150Tyr)" "47"
"0000766398" "00001847" "90" "5196" "1" "5196" "1" "c.5196+1G>A" "r.(?)" "p.(?)" "36i"
"0000766399" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000766400" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000766401" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000766402" "00001847" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408*)" "9"
"0000766403" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000766404" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000766405" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000766406" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000766407" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000766408" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000766409" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000766410" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000766411" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000766412" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000766413" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000766414" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000766415" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000766416" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000766417" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000766418" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000766419" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000766420" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000766421" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000766422" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000766423" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000766424" "00001847" "90" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973*)" "43"
"0000766425" "00001847" "50" "6148" "0" "6148" "0" "c.6148G>C" "r.=" "p.(Val2050Leu)" "45"
"0000766426" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000766427" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000766428" "00001847" "90" "108" "0" "108" "0" "c.108del" "r.(?)" "p.(Leu37Trpfs*3)" "2"
"0000766429" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000766430" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000766431" "00001847" "70" "5657" "0" "5657" "0" "c.5657G>A" "r.(?)" "p.(Gly1886Glu)" "40"
"0000766432" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000766433" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000766434" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000766435" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000766436" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000766437" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000766438" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000766439" "00001847" "70" "203" "0" "203" "0" "c.203C>T" "r.(?)" "p.(Pro68Leu)" "3"
"0000766440" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000766441" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000766442" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000766443" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000766444" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000766445" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000766446" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000766447" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000766448" "00001847" "90" "5460" "1" "5460" "1" "c.5460+1G>A" "r.spl" "p.?" "38i"
"0000766449" "00001847" "90" "5460" "1" "5460" "1" "c.5460+1G>A" "r.spl" "p.?" "38i"
"0000766450" "00001847" "90" "5460" "1" "5460" "1" "c.5460+1G>A" "r.spl" "p.?" "38i"
"0000766451" "00001847" "90" "5460" "1" "5460" "1" "c.5460+1G>A" "r.spl" "p.?" "38i"
"0000766452" "00001847" "90" "5460" "1" "5460" "1" "c.5460+1G>A" "r.spl" "p.?" "38i"
"0000766453" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000766454" "00001847" "90" "5460" "1" "5460" "1" "c.5460+1G>A" "r.spl" "p.?" "38i"
"0000766455" "00001847" "90" "5460" "1" "5460" "1" "c.5460+1G>A" "r.spl" "p.?" "38i"
"0000766456" "00001847" "90" "5460" "1" "5460" "1" "c.5460+1G>A" "r.spl" "p.?" "38i"
"0000766457" "00001847" "90" "5460" "1" "5460" "1" "c.5460+1G>A" "r.spl" "p.?" "38i"
"0000766458" "00001847" "90" "4739" "0" "4739" "0" "c.4739del" "r.(?)" "p.(Leu1580*)" "33"
"0000766459" "00001847" "70" "164" "0" "164" "0" "c.164A>C" "r.(?)" "p.(His55Pro)" "3"
"0000766460" "00001847" "70" "610" "0" "610" "0" "c.610G>A" "r.(?)" "p.(Ala204Thr)" "6"
"0000766461" "00001847" "50" "868" "0" "868" "0" "c.868C>T" "r.(?)" "p.(Arg290Trp)" "8"
"0000766462" "00001847" "50" "1699" "0" "1699" "0" "c.1699G>A" "r.(?)" "p.(Val567Met)" "12"
"0000766463" "00001847" "70" "1726" "0" "1726" "0" "c.1726G>C" "r.(?)" "p.(Asp576His)" "12"
"0000766464" "00001847" "70" "1817" "0" "1817" "0" "c.1817G>A" "r.(?)" "p.(Gly606Asp)" "13"
"0000766465" "00001847" "50" "1964" "0" "1964" "0" "c.1964T>G" "r.(?)" "p.(Phe655Cys)" "14"
"0000766466" "00001847" "70" "2173" "0" "2173" "0" "c.2173C>A" "r.(?)" "p.(Leu725Ile)" "15"
"0000766467" "00001847" "70" "2297" "0" "2297" "0" "c.2297G>A" "r.(?)" "p.(Gly766Asp)" "15"
"0000766468" "00001847" "70" "2385" "0" "2385" "0" "c.2385C>G" "r.(?)" "p.(Ser795Arg)" "16"
"0000766469" "00001847" "50" "2401" "0" "2401" "0" "c.2401G>A" "r.(?)" "p.(Ala801Thr)" "16"
"0000766470" "00001847" "70" "3076" "0" "3076" "0" "c.3076T>C" "r.(?)" "p.(Phe1026Leu)" "21"
"0000766471" "00001847" "70" "3138" "0" "3138" "0" "c.3138G>T" "r.(?)" "p.(Leu1046Phe)" "21"
"0000766472" "00001847" "70" "3134" "0" "3134" "0" "c.3134T>C" "r.(?)" "p.(Met1045Thr)" "21"
"0000766473" "00001847" "50" "4256" "0" "4256" "0" "c.4256T>C" "r.(?)" "p.(Met1419Thr)" "28i"
"0000766474" "00001847" "70" "4535" "0" "4535" "0" "c.4535C>A" "r.(?)" "p.(Pro1512His)" "30"
"0000766475" "00001847" "70" "4849" "0" "4849" "0" "c.4849G>A" "r.[4849_5018del,4849_5109del,=]" "p. [Val1617Alafs*113,Val1617Met,=]" "35"
"0000766476" "00001847" "70" "4870" "0" "4870" "0" "c.4870T>G" "r.(?)" "p.(Trp1624Gly)" "35"
"0000766477" "00001847" "70" "5026" "0" "5026" "0" "c.5026A>C" "r.(?)" "p.(Thr1676Pro)" "36"
"0000766478" "00001847" "70" "5197" "-3" "5197" "-3" "c.5197-3G>C" "r.(?)" "p.(?)" "36i"
"0000766479" "00001847" "70" "5700" "0" "5700" "0" "c.5700C>A" "r.(?)" "p.(Phe1900Leu)" "40"
"0000766480" "00001847" "70" "5885" "0" "5885" "0" "c.5885T>A" "r.(?)" "p.(Val1962Asp)" "42"
"0000766481" "00001847" "50" "6718" "0" "6718" "0" "c.6718A>G" "r.(?)" "p.(Thr2240Ala)" "48"
"0000766482" "00001847" "90" "5898" "1" "5898" "1" "c.5898+1G>T" "r.spl" "p.?" "42i"
"0000766483" "00001847" "90" "3943" "0" "3943" "0" "c.3943C>T" "r.(?)" "p.(Gln1315*)" "27"
"0000766484" "00001847" "70" "5881" "0" "5881" "0" "c.5881G>A" "r.(?)" "p.(Gly1961Arg)" "42"
"0000766485" "00001847" "90" "6559" "0" "6559" "0" "c.6559C>T" "r.(?)" "p.(Gln2187*)" "48"
"0000766486" "00001847" "90" "3329" "-2" "3329" "-2" "c.3329-2A>G" "r.spl" "p.?" "22i"
"0000766487" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000766488" "00001847" "90" "3259" "0" "3259" "0" "c.3259G>A" "r.(?)" "p.(Glu1087Lys)" "22"
"0000766489" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000766490" "00001847" "90" "4537" "0" "4537" "0" "c.4537del" "r.(?)" "p.(Gln1513Argfs*13)" "30"
"0000766491" "00001847" "90" "3056" "0" "3056" "0" "c.3056C>T" "r.(?)" "p.(Thr1019Met)" "21"
"0000766492" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000766493" "00001847" "50" "2804" "0" "2804" "0" "c.2804T>C" "r.(?)" "p.(Val935Ala)" "19"
"0000766494" "00001847" "90" "2041" "0" "2041" "0" "c.2041C>T" "r.(?)" "p.(Arg681*)" "14"
"0000766495" "00001847" "70" "161" "0" "161" "0" "c.161G>A" "r.[161_302del,161g>a]" "p.[Cys54Serfs*14,Cys54Tyr]" "3"
"0000766496" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.[(768g>u;768_769ins768+1_768+35)]" "p.(Leu257Valfs*17)" "6"
"0000766497" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.[(768g>u;768_769ins768+1_768+35)]" "p.(Leu257Valfs*17)" "6"
"0000766498" "00001847" "10" "3899" "0" "3899" "0" "c.3899G>A" "r.(?)" "p.(Arg1300Gln)" "27"
"0000766499" "00001847" "70" "5929" "0" "5929" "0" "c.5929G>A" "r.(?)" "p.(Gly1977Ser)" "43"
"0000766500" "00001847" "90" "454" "0" "454" "0" "c.454C>T" "r.(?)" "p.(Arg152*)" "5"
"0000766501" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000766502" "00001847" "90" "1988" "0" "1988" "0" "c.1988G>A" "r.(?)" "p.(Trp663*)" "14"
"0000766503" "00001847" "50" "5693" "0" "5693" "0" "c.5693G>A" "r.(?)" "p.(Arg1898His)" "40"
"0000766504" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000766505" "00001847" "50" "1411" "0" "1411" "0" "c.1411G>A" "r.(?)" "p.(Glu471Lys)" "11"
"0000766506" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000766507" "00001847" "70" "203" "0" "203" "0" "c.203C>T" "r.(?)" "p.(Pro68Leu)" "3"
"0000766508" "00001847" "50" "4195" "0" "4195" "0" "c.4195G>A" "r.(?)" "p.(Glu1399Lys)" "28"
"0000766509" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000766510" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000766511" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000766512" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000766513" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000766514" "00001847" "90" "2041" "0" "2041" "0" "c.2041C>T" "r.(?)" "p.(Arg681*)" "14"
"0000766515" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.[(768g>u;768_769ins768+1_768+35)]" "p.(Leu257Valfs*17)" "6"
"0000766516" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000766517" "00001847" "90" "700" "0" "700" "0" "c.700C>T" "r.(?)" "p.(Gln234*)" "6"
"0000766518" "00001847" "50" "4297" "0" "4297" "0" "c.4297G>A" "r.(?)" "p.(Val1433Ile)" "29"
"0000766519" "00001847" "70" "5059" "0" "5059" "0" "c.5059A>T" "r.(?)" "p.(Ile1687Phe)" "36"
"0000766520" "00001847" "50" "5908" "0" "5908" "0" "c.5908C>T" "r.(?)" "p.(Leu1970Phe)" "43"
"0000766521" "00001847" "50" "466" "0" "466" "0" "c.466A>G" "r.(?)" "p.(Ile156Val)" "5"
"0000766522" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000766523" "00001847" "90" "671" "0" "671" "0" "c.671del" "r.(?)" "p.(Thr224Argfs*17)" "6"
"0000766524" "00001847" "70" "4457" "0" "4457" "0" "c.4457C>T" "r.(?)" "p.(Pro1486Leu)" "30"
"0000766525" "00001847" "90" "671" "0" "671" "0" "c.671del" "r.(?)" "p.(Thr224Argfs*17)" "6"
"0000766526" "00001847" "90" "1357" "0" "1358" "0" "c.1357_1358del" "r.(?)" "p.(Asp453Tyrfs*13)" "10"
"0000766527" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000766528" "00001847" "90" "1029" "0" "1029" "0" "c.1029dup" "r.(?)" "p.(Asn344*)" "8"
"0000766529" "00001847" "90" "700" "0" "700" "0" "c.700C>T" "r.(?)" "p.(Gln234*)" "6"
"0000766530" "00001847" "90" "2" "0" "2" "0" "c.2T>C" "r.(?)" "p.(=,?)" "1"
"0000766531" "00001847" "90" "400" "0" "400" "0" "c.400C>T" "r.(?)" "p.(Gln134*)" "4"
"0000766532" "00001847" "70" "4855" "0" "4855" "0" "c.4855T>C" "r.(?)" "p.(Phe1619Leu)" "35"
"0000766533" "00001847" "70" "2861" "0" "2861" "0" "c.2861A>C" "r.(?)" "p.(Tyr954Ser)" "19"
"0000766534" "00001847" "50" "3626" "0" "3626" "0" "c.3626T>C" "r.(?)" "p.(Met1209Thr)" "25"
"0000766535" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000766536" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000766537" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000766538" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000766539" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000766540" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000766541" "00001847" "70" "3323" "0" "3323" "0" "c.3323G>A" "r.(?)" "p.(Arg1108His)" "22"
"0000766542" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000766543" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000766544" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000766545" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000766546" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000766547" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000766548" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000766549" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000766550" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000766551" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000766552" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000766553" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000766554" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000766555" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000766556" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000766557" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000766558" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000766559" "00001847" "50" "455" "0" "455" "0" "c.455G>A" "r.(?)" "p.(Arg152Gln)" "5"
"0000766560" "00001847" "50" "455" "0" "455" "0" "c.455G>A" "r.(?)" "p.(Arg152Gln)" "5"
"0000766561" "00001847" "50" "455" "0" "455" "0" "c.455G>A" "r.(?)" "p.(Arg152Gln)" "5"
"0000766562" "00001847" "50" "455" "0" "455" "0" "c.455G>A" "r.(?)" "p.(Arg152Gln)" "5"
"0000766563" "00001847" "50" "455" "0" "455" "0" "c.455G>A" "r.(?)" "p.(Arg152Gln)" "5"
"0000766564" "00001847" "50" "455" "0" "455" "0" "c.455G>A" "r.(?)" "p.(Arg152Gln)" "5"
"0000766565" "00001847" "90" "454" "0" "454" "0" "c.454C>T" "r.(?)" "p.(Arg152*)" "5"
"0000766566" "00001847" "70" "4919" "0" "4919" "0" "c.4919G>A" "r.(?)" "p.(Arg1640Gln)" "35"
"0000766567" "00001847" "70" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" "35"
"0000766568" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000766569" "00001847" "70" "6320" "0" "6320" "0" "c.6320G>C" "r.(?)" "p.(Arg2107Pro)" "46"
"0000766570" "00001847" "70" "6320" "0" "6320" "0" "c.6320G>C" "r.(?)" "p.(Arg2107Pro)" "46"
"0000766571" "00001847" "70" "6320" "0" "6320" "0" "c.6320G>C" "r.(?)" "p.(Arg2107Pro)" "46"
"0000766572" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000766573" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000766574" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000766575" "00001847" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408*)" "9"
"0000766576" "00001847" "50" "1715" "0" "1715" "0" "c.1715G>C" "r.(?)" "p.(Arg572Pro)" "12"
"0000766577" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000766578" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000766579" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000766580" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000766581" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000766582" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000766583" "00001847" "90" "1957" "0" "1957" "0" "c.1957C>T" "r.(?)" "p.(Arg653Cys)" "14"
"0000766584" "00001847" "90" "2041" "0" "2041" "0" "c.2041C>T" "r.(?)" "p.(Arg681*)" "14"
"0000766585" "00001847" "50" "5395" "0" "5395" "0" "c.5395A>G" "r.(?)" "p.(Asn1799Asp)" "38"
"0000766586" "00001847" "50" "1140" "0" "1140" "0" "c.1140T>A" "r.(?)" "p.(Asn380Lys)" "9"
"0000766587" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000766588" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000766589" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000766590" "00001847" "90" "2888" "0" "2888" "0" "c.2888del" "r.(?)" "p.(Gly963Alafs*14)" "19"
"0000766591" "00001847" "90" "2888" "0" "2888" "0" "c.2888del" "r.(?)" "p.(Gly963Alafs*14)" "19"
"0000766592" "00001847" "90" "2888" "0" "2888" "0" "c.2888del" "r.(?)" "p.(Gly963Alafs*14)" "19"
"0000766593" "00001847" "90" "2888" "0" "2888" "0" "c.2888del" "r.(?)" "p.(Gly963Alafs*14)" "19"
"0000766594" "00001847" "90" "2888" "0" "2888" "0" "c.2888del" "r.(?)" "p.(Gly963Alafs*14)" "19"
"0000766595" "00001847" "90" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071Cysfs*14)" "22"
"0000766596" "00001847" "90" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071Cysfs*14)" "22"
"0000766597" "00001847" "90" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071Cysfs*14)" "22"
"0000766598" "00001847" "90" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071Cysfs*14)" "22"
"0000766599" "00001847" "90" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071Cysfs*14)" "22"
"0000766600" "00001847" "90" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071Cysfs*14)" "22"
"0000766601" "00001847" "90" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071Cysfs*14)" "22"
"0000766602" "00001847" "90" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071Cysfs*14)" "22"
"0000766603" "00001847" "90" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071Cysfs*14)" "22"
"0000766604" "00001847" "90" "4537" "0" "4537" "0" "c.4537dup" "r.(?)" "p.(Gln1513Profs*42)" "30"
"0000766605" "00001847" "90" "4537" "0" "4537" "0" "c.4537dup" "r.(?)" "p.(Gln1513Profs*42)" "30"
"0000766606" "00001847" "90" "4537" "0" "4537" "0" "c.4537dup" "r.(?)" "p.(Gln1513Profs*42)" "30"
"0000766607" "00001847" "70" "5044" "0" "5058" "0" "c.5044_5058del" "r.(?)" "p.(Val1682_Val1686del)" "36"
"0000766608" "00001847" "70" "5044" "0" "5058" "0" "c.5044_5058del" "r.(?)" "p.(Val1682_Val1686del)" "36"
"0000766609" "00001847" "70" "5044" "0" "5058" "0" "c.5044_5058del" "r.(?)" "p.(Val1682_Val1686del)" "36"
"0000766610" "00001847" "70" "5044" "0" "5058" "0" "c.5044_5058del" "r.(?)" "p.(Val1682_Val1686del)" "36"
"0000766611" "00001847" "70" "5044" "0" "5058" "0" "c.5044_5058del" "r.(?)" "p.(Val1682_Val1686del)" "36"
"0000766612" "00001847" "90" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973*)" "43"
"0000766613" "00001847" "90" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973*)" "43"
"0000766614" "00001847" "90" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973*)" "43"
"0000766615" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000766616" "00001847" "70" "6449" "0" "6449" "0" "c.6449G>A" "r.(?)" "p.(Cys2150Tyr)" "47"
"0000766617" "00001847" "90" "982" "0" "982" "0" "c.982G>T" "r.(?)" "p.(Glu328*)" "8"
"0000766618" "00001847" "50" "5242" "0" "5242" "0" "c.5242G>A" "r.(?)" "p.(Gly1748Arg)" "37"
"0000766619" "00001847" "70" "5881" "0" "5881" "0" "c.5881G>A" "r.(?)" "p.(Gly1961Arg)" "42"
"0000766620" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000766621" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000766622" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000766623" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000766624" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000766625" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000766626" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000766627" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000766628" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000766629" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000766630" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000766631" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000766632" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000766633" "00001847" "70" "5929" "0" "5929" "0" "c.5929G>A" "r.(?)" "p.(Gly1977Ser)" "43"
"0000766634" "00001847" "70" "5929" "0" "5929" "0" "c.5929G>A" "r.(?)" "p.(Gly1977Ser)" "43"
"0000766635" "00001847" "70" "5929" "0" "5929" "0" "c.5929G>A" "r.(?)" "p.(Gly1977Ser)" "43"
"0000766636" "00001847" "70" "5929" "0" "5929" "0" "c.5929G>A" "r.(?)" "p.(Gly1977Ser)" "43"
"0000766637" "00001847" "70" "1648" "0" "1648" "0" "c.1648G>A" "r.(?)" "p.(Gly550Arg)" "12"
"0000766638" "00001847" "90" "1819" "0" "1819" "0" "c.1819G>A" "r.(?)" "p.(Gly607Arg)" "13"
"0000766639" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000766640" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000766641" "00001847" "50" "466" "0" "466" "0" "c.466A>G" "r.(?)" "p.(Ile156Val)" "5"
"0000766642" "00001847" "50" "5585" "-10" "5585" "-10" "c.5585-10T>C" "r.=" "p.(=)" "39i"
"0000766643" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000766644" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000766645" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000766646" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000766647" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000766648" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000766649" "00001847" "70" "5819" "0" "5819" "0" "c.5819T>C" "r.(?)" "p.(Leu1940Pro)" "41"
"0000766650" "00001847" "70" "5819" "0" "5819" "0" "c.5819T>C" "r.(?)" "p.(Leu1940Pro)" "41"
"0000766651" "00001847" "70" "5819" "0" "5819" "0" "c.5819T>C" "r.(?)" "p.(Leu1940Pro)" "41"
"0000766652" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000766653" "00001847" "70" "6179" "0" "6179" "0" "c.6179T>G" "r.(?)" "p.(Leu2060Arg)" "45"
"0000766654" "00001847" "70" "6179" "0" "6179" "0" "c.6179T>G" "r.(?)" "p.(Leu2060Arg)" "45"
"0000766655" "00001847" "70" "6179" "0" "6179" "0" "c.6179T>G" "r.(?)" "p.(Leu2060Arg)" "45"
"0000766656" "00001847" "70" "6179" "0" "6179" "0" "c.6179T>G" "r.(?)" "p.(Leu2060Arg)" "45"
"0000766657" "00001847" "70" "6179" "0" "6179" "0" "c.6179T>G" "r.(?)" "p.(Leu2060Arg)" "45"
"0000766658" "00001847" "50" "6721" "0" "6721" "0" "c.6721C>G" "r.(?)" "p.(Leu2241Val)" "48"
"0000766659" "00001847" "70" "5644" "0" "5644" "0" "c.5644A>G" "r.(?)" "p.(Met1882Val)" "40"
"0000766660" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000766661" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000766662" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000766663" "00001847" "70" "4457" "0" "4457" "0" "c.4457C>T" "r.(?)" "p.(Pro1486Leu)" "30"
"0000766664" "00001847" "70" "4457" "0" "4457" "0" "c.4457C>T" "r.(?)" "p.(Pro1486Leu)" "30"
"0000766665" "00001847" "70" "4457" "0" "4457" "0" "c.4457C>T" "r.(?)" "p.(Pro1486Leu)" "30"
"0000766666" "00001847" "90" "3056" "0" "3056" "0" "c.3056C>T" "r.(?)" "p.(Thr1019Met)" "21"
"0000766667" "00001847" "90" "3056" "0" "3056" "0" "c.3056C>T" "r.(?)" "p.(Thr1019Met)" "21"
"0000766668" "00001847" "90" "3056" "0" "3056" "0" "c.3056C>T" "r.(?)" "p.(Thr1019Met)" "21"
"0000766669" "00001847" "90" "3056" "0" "3056" "0" "c.3056C>T" "r.(?)" "p.(Thr1019Met)" "21"
"0000766670" "00001847" "90" "3056" "0" "3056" "0" "c.3056C>T" "r.(?)" "p.(Thr1019Met)" "21"
"0000766671" "00001847" "50" "3758" "0" "3758" "0" "c.3758C>T" "r.(?)" "p.(Thr1253Met)" "25"
"0000766672" "00001847" "50" "3758" "0" "3758" "0" "c.3758C>T" "r.(?)" "p.(Thr1253Met)" "25"
"0000766673" "00001847" "50" "2690" "0" "2690" "0" "c.2690C>T" "r.(?)" "p.(Thr897Ile)" "18"
"0000766674" "00001847" "50" "2701" "0" "2701" "0" "c.2701A>G" "r.(?)" "p.(Thr901Ala)" "18"
"0000766675" "00001847" "50" "4297" "0" "4297" "0" "c.4297G>A" "r.(?)" "p.(Val1433Ile)" "29"
"0000766676" "00001847" "70" "2300" "0" "2300" "0" "c.2300T>A" "r.(?)" "p.(Val767Asp)" "15"
"0000766677" "00001847" "50" "2791" "0" "2791" "0" "c.2791G>A" "r.(?)" "p.(Val931Met)" "19"
"0000766678" "00001847" "50" "2791" "0" "2791" "0" "c.2791G>A" "r.(?)" "p.(Val931Met)" "19"
"0000766679" "00001847" "50" "2791" "0" "2791" "0" "c.2791G>A" "r.(?)" "p.(Val931Met)" "19"
"0000766680" "00001847" "50" "2791" "0" "2791" "0" "c.2791G>A" "r.(?)" "p.(Val931Met)" "19"
"0000766681" "00001847" "50" "2791" "0" "2791" "0" "c.2791G>A" "r.(?)" "p.(Val931Met)" "19"
"0000766682" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000766683" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000766684" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000766685" "00001847" "90" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071Cysfs*14)" "22"
"0000766686" "00001847" "90" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071Cysfs*14)" "22"
"0000766687" "00001847" "70" "4793" "0" "4793" "0" "c.4793C>A" "r.(?)" "p.(Ala1598Asp)" "34"
"0000766688" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000766689" "00001847" "50" "2791" "0" "2791" "0" "c.2791G>A" "r.(?)" "p.(Val931Met)" "19"
"0000766690" "00001847" "70" "4919" "0" "4919" "0" "c.4919G>A" "r.(?)" "p.(Arg1640Gln)" "35"
"0000766691" "00001847" "50" "4297" "0" "4297" "0" "c.4297G>A" "r.(?)" "p.(Val1433Ile)" "29"
"0000766692" "00001847" "50" "2701" "0" "2701" "0" "c.2701A>G" "r.(?)" "p.(Thr901Ala)" "18"
"0000766693" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000766694" "00001847" "50" "466" "0" "466" "0" "c.466A>G" "r.(?)" "p.(Ile156Val)" "5"
"0000766695" "00001847" "50" "4297" "0" "4297" "0" "c.4297G>A" "r.(?)" "p.(Val1433Ile)" "29"
"0000766696" "00001847" "50" "5413" "0" "5413" "0" "c.5413A>G" "r.(?)" "p.(Asn1805Asp)" "38"
"0000766697" "00001847" "50" "2690" "0" "2690" "0" "c.2690C>T" "r.(?)" "p.(Thr897Ile)" "18"
"0000766698" "00001847" "50" "4297" "0" "4297" "0" "c.4297G>A" "r.(?)" "p.(Val1433Ile)" "29"
"0000766699" "00001847" "70" "4462" "0" "4462" "0" "c.4462T>C" "r.(?)" "p.(Cys1488Arg)" "30"
"0000766700" "00001847" "90" "122" "0" "122" "0" "c.122G>A" "r.(?)" "p.(Trp41*)" "2"
"0000766701" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000766702" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000766703" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000766704" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.[(768g>u;768_769ins768+1_768+35)]" "p.(Leu257Valfs*17)" "6"
"0000766705" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000766706" "00001847" "70" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" "44"
"0000766707" "00001847" "70" "1609" "0" "1609" "0" "c.1609C>T" "r.(?)" "p.(Arg537Cys)" "12"
"0000766708" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.[(768g>u;768_769ins768+1_768+35)]" "p.(Leu257Valfs*17)" "6"
"0000766709" "00001847" "70" "1609" "0" "1609" "0" "c.1609C>T" "r.(?)" "p.(Arg537Cys)" "12"
"0000766710" "00001847" "50" "1928" "0" "1928" "0" "c.1928T>G" "r.(?)" "p.(Val643Gly)" "13"
"0000766711" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000766712" "00001847" "50" "1037" "0" "1037" "0" "c.1037A>C" "r.(?)" "p.(Lys346Thr)" "8"
"0000766713" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000766714" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000766715" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000766716" "00001847" "70" "4594" "0" "4594" "0" "c.4594G>A" "r.(?)" "p.(Asp1532Asn)" "31"
"0000766717" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000766718" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000766719" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000766720" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000766721" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000766722" "00001847" "90" "2565" "0" "2572" "0" "c.2565_2572del" "r.(?)" "p.(Trp855*)" "16"
"0000766723" "00001847" "70" "4319" "0" "4319" "0" "c.4319T>C" "r.(?)" "p.(Phe1440Ser)" "29"
"0000766724" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000766725" "00001847" "10" "3899" "0" "3899" "0" "c.3899G>A" "r.(?)" "p.(Arg1300Gln)" "27"
"0000766726" "00001847" "70" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" "35"
"0000766727" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000766728" "00001847" "90" "982" "0" "982" "0" "c.982G>T" "r.(?)" "p.(Glu328*)" "8"
"0000766729" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000766730" "00001847" "90" "2966" "0" "2966" "0" "c.2966T>C" "r.(?)" "p.(Val989Ala)" "20"
"0000766731" "00001847" "50" "2521" "0" "2521" "0" "c.2521C>A" "r.(?)" "p.(Gln841Lys)" "16"
"0000766732" "00001847" "70" "560" "0" "560" "0" "c.560G>A" "r.(?)" "p.(Arg187His)" "5"
"0000766733" "00001847" "70" "1592" "0" "1592" "0" "c.1592A>G" "r.(?)" "p.(Glu531Gly)" "12"
"0000766734" "00001847" "70" "5549" "0" "5549" "0" "c.5549T>C" "r.(?)" "p.(Leu1850Pro)" "39"
"0000766735" "00001847" "90" "5018" "2" "5018" "2" "c.5018+2T>C" "r.spl" "p.?" "35i"
"0000766736" "00001847" "50" "839" "0" "839" "0" "c.839T>C" "r.(?)" "p.(Met280Thr)" "7"
"0000766737" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000766738" "00001847" "10" "6764" "0" "6764" "0" "c.6764G>T" "r.(?)" "p.(Ser2255Ile)" "49"
"0000766739" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000766740" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000766741" "00001847" "10" "2828" "0" "2828" "0" "c.2828G>A" "r.(?)" "p.(Arg943Gln)" "19"
"0000766742" "00001847" "50" "869" "0" "869" "0" "c.869G>A" "r.(?)" "p.(Arg290Gln)" "8"
"0000766743" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000766744" "00001847" "70" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" "44"
"0000766745" "00001847" "50" "5585" "-10" "5585" "-10" "c.5585-10T>C" "r.=" "p.(=)" "39i"
"0000766746" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000766747" "00001847" "50" "1411" "0" "1411" "0" "c.1411G>A" "r.(?)" "p.(Glu471Lys)" "11"
"0000766748" "00001847" "10" "6764" "0" "6764" "0" "c.6764G>T" "r.(?)" "p.(Ser2255Ile)" "49"
"0000766749" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000766750" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000766751" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000766752" "00001847" "10" "6764" "0" "6764" "0" "c.6764G>T" "r.(?)" "p.(Ser2255Ile)" "49"
"0000766753" "00001847" "70" "4596" "0" "4596" "0" "c.4596C>G" "r.(?)" "p.(Asp1532Glu)" "31"
"0000766754" "00001847" "70" "3364" "0" "3364" "0" "c.3364G>A" "r.(?)" "p.(Glu1122Lys)" "23"
"0000766755" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000766756" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000766757" "00001847" "70" "4222" "0" "4222" "0" "c.4222T>C" "r.(?)" "p.(Trp1408Arg)" "28"
"0000766758" "00001847" "50" "160" "0" "160" "0" "c.160T>G" "r.(?)" "p.(Cys54Gly,?)" "2"
"0000766759" "00001847" "70" "5381" "0" "5381" "0" "c.5381C>A" "r.(?)" "p.(Ala1794Asp)" "38"
"0000766760" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000766761" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000766762" "00001847" "50" "5693" "0" "5693" "0" "c.5693G>A" "r.(?)" "p.(Arg1898His)" "40"
"0000766763" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000766764" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000766765" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000766766" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000766767" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000766768" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000766769" "00001847" "90" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.(Met1Val)" "1"
"0000766770" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000766771" "00001847" "90" "1714" "0" "1714" "0" "c.1714C>T" "r.(?)" "p.(Arg572*)" "12"
"0000766772" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000766773" "00001847" "90" "4537" "0" "4537" "0" "c.4537del" "r.(?)" "p.(Gln1513Argfs*13)" "30"
"0000766774" "00001847" "70" "6140" "0" "6140" "0" "c.6140T>A" "r.(?)" "p.(Ile2047Asn)" "44"
"0000766775" "00001847" "70" "2285" "0" "2285" "0" "c.2285C>A" "r.(?)" "p.(Ala762Glu)" "15"
"0000766776" "00001847" "70" "5460" "5" "5460" "5" "c.5460+5G>A" "r.5313_5460del" "p.(Trp1772Argfs*9)" "38i"
"0000766777" "00001847" "70" "6410" "0" "6410" "0" "c.6410G>A" "r.(?)" "p.(Cys2137Tyr)" "47"
"0000766778" "00001847" "90" "4036" "0" "4037" "0" "c.4036_4037del" "r.(?)" "p.(Thr1346Glyfs*75)" "27"
"0000766779" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000766780" "00001847" "50" "5693" "0" "5693" "0" "c.5693G>A" "r.(?)" "p.(Arg1898His)" "40"
"0000766781" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000766782" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000766783" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000766784" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000766785" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000766786" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000766787" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000766788" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000766789" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000766790" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000766791" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000766792" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000766793" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000766794" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000766795" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000766796" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000766797" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000766798" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000766799" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000766800" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000766801" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000766802" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000766803" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000766804" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000766805" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000766806" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000766807" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000766808" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000766809" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000766810" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000766811" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000766812" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000766813" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000766814" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000766815" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000766816" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000766817" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000766818" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000766819" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000766820" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000766821" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000766822" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000766823" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000766824" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000766825" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000766826" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000766827" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000766828" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000766829" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000766830" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000766831" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000766832" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000766833" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000766834" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000766835" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000766836" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000766837" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000766838" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000766839" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000766840" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000766841" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000766842" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000766843" "00001847" "90" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071Cysfs*14)" "22"
"0000766844" "00001847" "90" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071Cysfs*14)" "22"
"0000766845" "00001847" "90" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071Cysfs*14)" "22"
"0000766846" "00001847" "90" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071Cysfs*14)" "22"
"0000766847" "00001847" "90" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071Cysfs*14)" "22"
"0000766848" "00001847" "90" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071Cysfs*14)" "22"
"0000766849" "00001847" "90" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071Cysfs*14)" "22"
"0000766850" "00001847" "70" "6179" "0" "6179" "0" "c.6179T>G" "r.(?)" "p.(Leu2060Arg)" "45"
"0000766851" "00001847" "70" "6179" "0" "6179" "0" "c.6179T>G" "r.(?)" "p.(Leu2060Arg)" "45"
"0000766852" "00001847" "70" "6179" "0" "6179" "0" "c.6179T>G" "r.(?)" "p.(Leu2060Arg)" "45"
"0000766853" "00001847" "70" "6179" "0" "6179" "0" "c.6179T>G" "r.(?)" "p.(Leu2060Arg)" "45"
"0000766854" "00001847" "70" "6179" "0" "6179" "0" "c.6179T>G" "r.(?)" "p.(Leu2060Arg)" "45"
"0000766855" "00001847" "70" "6179" "0" "6179" "0" "c.6179T>G" "r.(?)" "p.(Leu2060Arg)" "45"
"0000766856" "00001847" "70" "6179" "0" "6179" "0" "c.6179T>G" "r.(?)" "p.(Leu2060Arg)" "45"
"0000766857" "00001847" "50" "5395" "0" "5395" "0" "c.5395A>G" "r.(?)" "p.(Asn1799Asp)" "38"
"0000766858" "00001847" "50" "3758" "0" "3758" "0" "c.3758C>T" "r.(?)" "p.(Thr1253Met)" "25"
"0000766859" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000766860" "00001847" "50" "481" "0" "481" "0" "c.481G>A" "r.(?)" "p.(Glu161Lys)" "5"
"0000766861" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000766862" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000766863" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000766864" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000766865" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000766866" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000766867" "00001847" "70" "3050" "5" "3050" "5" "c.3050+5G>A" "r.2919_3050del" "p.(Leu973_His1017delinsPhe)" "20i"
"0000766868" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000766869" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000766870" "00001847" "70" "3323" "0" "3323" "0" "c.3323G>A" "r.(?)" "p.(Arg1108His)" "22"
"0000766871" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000766872" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000766873" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000766874" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000766875" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000766876" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000766877" "00001847" "50" "2560" "0" "2560" "0" "c.2560G>A" "r.(?)" "p.(Ala854Thr)" "16"
"0000766878" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000766879" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000766880" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000766881" "00001847" "70" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" "35"
"0000766882" "00001847" "70" "161" "0" "161" "0" "c.161G>A" "r.[161_302del,161g>a]" "p.[Cys54Serfs*14,Cys54Tyr]" "3"
"0000766883" "00001847" "70" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" "35"
"0000766884" "00001847" "70" "4222" "0" "4222" "0" "c.4222T>C" "r.(?)" "p.(Trp1408Arg)" "28"
"0000766885" "00001847" "50" "5585" "-10" "5585" "-10" "c.5585-10T>C" "r.=" "p.(=)" "39i"
"0000766886" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000766887" "00001847" "70" "4216" "0" "4216" "0" "c.4216C>T" "r.(?)" "p.(His1406Tyr)" "28"
"0000766888" "00001847" "70" "302" "4" "302" "4" "c.302+4A>C" "r.161_302del" "p.(Cys54Serfs*14)" "3i"
"0000766889" "00001847" "70" "302" "4" "302" "4" "c.302+4A>C" "r.161_302del" "p.(Cys54Serfs*14)" "3i"
"0000766890" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000766891" "00001847" "90" "2966" "0" "2966" "0" "c.2966T>C" "r.(?)" "p.(Val989Ala)" "20"
"0000766892" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000766893" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000766894" "00001847" "90" "4537" "0" "4537" "0" "c.4537del" "r.(?)" "p.(Gln1513Argfs*13)" "30"
"0000766895" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000766896" "00001847" "90" "2966" "0" "2966" "0" "c.2966T>C" "r.(?)" "p.(Val989Ala)" "20"
"0000766897" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000766898" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000766899" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000766900" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000766901" "00001847" "70" "4457" "0" "4457" "0" "c.4457C>T" "r.(?)" "p.(Pro1486Leu)" "30"
"0000766902" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000766903" "00001847" "90" "2564" "0" "2564" "0" "c.2564G>A" "r.(?)" "p.(Trp855*)" "16"
"0000766904" "00001847" "70" "214" "0" "214" "0" "c.214G>A" "r.(?)" "p.(Gly72Arg)" "3"
"0000766905" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.[(768g>u;768_769ins768+1_768+35)]" "p.(Leu257Valfs*17)" "6"
"0000766906" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.[(768g>u;768_769ins768+1_768+35)]" "p.(Leu257Valfs*17)" "6"
"0000766907" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.[(768g>u;768_769ins768+1_768+35)]" "p.(Leu257Valfs*17)" "6"
"0000766908" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.[(768g>u;768_769ins768+1_768+35)]" "p.(Leu257Valfs*17)" "6"
"0000766909" "00001847" "70" "1822" "0" "1822" "0" "c.1822T>A" "r.(?)" "p.(Phe608Ile)" "13"
"0000766910" "00001847" "90" "4539" "1" "4539" "1" "c.4539+1G>T" "r.spl" "p.?" "30i"
"0000766911" "00001847" "70" "6229" "0" "6229" "0" "c.6229C>G" "r.(?)" "p.(Arg2077Gly)" "45"
"0000766912" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000766913" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.[(768g>u;768_769ins768+1_768+35)]" "p.(Leu257Valfs*17)" "6"
"0000766914" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.[(768g>u;768_769ins768+1_768+35)]" "p.(Leu257Valfs*17)" "6"
"0000766915" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.[(768g>u;768_769ins768+1_768+35)]" "p.(Leu257Valfs*17)" "6"
"0000766916" "00001847" "50" "2690" "0" "2690" "0" "c.2690C>T" "r.(?)" "p.(Thr897Ile)" "18"
"0000766917" "00001847" "50" "2690" "0" "2690" "0" "c.2690C>T" "r.(?)" "p.(Thr897Ile)" "18"
"0000766918" "00001847" "50" "2690" "0" "2690" "0" "c.2690C>T" "r.(?)" "p.(Thr897Ile)" "18"
"0000766919" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000766920" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000766921" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000766922" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000766923" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000766924" "00001847" "50" "5908" "0" "5908" "0" "c.5908C>T" "r.(?)" "p.(Leu1970Phe)" "43"
"0000766925" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000766926" "00001847" "90" "1584" "0" "1584" "0" "c.1584C>A" "r.(?)" "p.(Tyr528*)" "12"
"0000766927" "00001847" "70" "4594" "0" "4594" "0" "c.4594G>A" "r.(?)" "p.(Asp1532Asn)" "31"
"0000766928" "00001847" "90" "2099" "0" "2099" "0" "c.2099G>A" "r.(?)" "p.(Trp700*)" "14"
"0000766929" "00001847" "90" "5018" "2" "5018" "2" "c.5018+2T>C" "r.spl" "p.?" "35i"
"0000766930" "00001847" "90" "2633" "0" "2633" "0" "c.2633C>A" "r.(?)" "p.(Ser878*)" "17"
"0000766931" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000766932" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000766933" "00001847" "70" "6148" "-1" "6479" "1" "c.(6147+1_6148-1)_(6479+1_6480-1)del" "r.(?)" "P.(?)" "44i_47i"
"0000766934" "00001847" "10" "3602" "0" "3602" "0" "c.3602T>G" "r.(?)" "p.(Leu1201Arg)" "24"
"0000766935" "00001847" "10" "3602" "0" "3602" "0" "c.3602T>G" "r.(?)" "p.(Leu1201Arg)" "24"
"0000766936" "00001847" "10" "3602" "0" "3602" "0" "c.3602T>G" "r.(?)" "p.(Leu1201Arg)" "24"
"0000766937" "00001847" "10" "3899" "0" "3899" "0" "c.3899G>A" "r.(?)" "p.(Arg1300Gln)" "27"
"0000766938" "00001847" "10" "3899" "0" "3899" "0" "c.3899G>A" "r.(?)" "p.(Arg1300Gln)" "27"
"0000766939" "00001847" "10" "3899" "0" "3899" "0" "c.3899G>A" "r.(?)" "p.(Arg1300Gln)" "27"
"0000766940" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000766941" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000766942" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000766943" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000766944" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.[(768g>u;768_769ins768+1_768+35)]" "p.(Leu257Valfs*17)" "6"
"0000766945" "00001847" "90" "1906" "0" "1906" "0" "c.1906C>T" "r.(?)" "p.(Gln636*)" "13"
"0000766946" "00001847" "70" "161" "0" "161" "0" "c.161G>A" "r.[161_302del,161g>a]" "p.[Cys54Serfs*14,Cys54Tyr]" "3"
"0000766947" "00001847" "70" "6229" "0" "6229" "0" "c.6229C>T" "r.(?)" "p.(Arg2077Trp)" "45"
"0000766948" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000766949" "00001847" "70" "2915" "0" "2915" "0" "c.2915C>A" "r.(?)" "p.(Thr972Asn)" "19"
"0000766950" "00001847" "90" "4537" "0" "4537" "0" "c.4537dup" "r.(?)" "p.(Gln1513Profs*42)" "30"
"0000766951" "00001847" "70" "3323" "0" "3323" "0" "c.3323G>A" "r.(?)" "p.(Arg1108His)" "22"
"0000766952" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000766953" "00001847" "50" "1908" "0" "1908" "0" "c.1908G>T" "r.(?)" "p.(Gln636His)" "13"
"0000766954" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000766955" "00001847" "70" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" "35"
"0000766956" "00001847" "50" "868" "0" "868" "0" "c.868C>T" "r.(?)" "p.(Arg290Trp)" "8"
"0000766957" "00001847" "70" "5318" "0" "5318" "0" "c.5318C>T" "r.(?)" "p.(Ala1773Val)" "38"
"0000766958" "00001847" "90" "2041" "0" "2041" "0" "c.2041C>T" "r.(?)" "p.(Arg681*)" "14"
"0000766959" "00001847" "90" "2041" "0" "2041" "0" "c.2041C>T" "r.(?)" "p.(Arg681*)" "14"
"0000766960" "00001847" "70" "6229" "0" "6229" "0" "c.6229C>G" "r.(?)" "p.(Arg2077Gly)" "45"
"0000766961" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000766962" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000766963" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000766964" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000766965" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000766966" "00001847" "90" "2345" "0" "2345" "0" "c.2345G>A" "r.(?)" "p.(Trp782*)" "15"
"0000766967" "00001847" "50" "4297" "0" "4297" "0" "c.4297G>A" "r.(?)" "p.(Val1433Ile)" "29"
"0000766968" "00001847" "70" "3610" "0" "3610" "0" "c.3610G>A" "r.(?)" "p.(Asp1204Asn)" "25"
"0000766969" "00001847" "70" "3323" "0" "3323" "0" "c.3323G>A" "r.(?)" "p.(Arg1108His)" "22"
"0000766970" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000766971" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.[(768g>u;768_769ins768+1_768+35)]" "p.(Leu257Valfs*17)" "6"
"0000766972" "00001847" "90" "4383" "0" "4383" "0" "c.4383G>A" "r.(?)" "p.(Trp1461*)" "30"
"0000766973" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000766974" "00001847" "70" "2461" "0" "2461" "0" "c.2461T>A" "r.(?)" "p.(Trp821Arg)" "16"
"0000766975" "00001847" "90" "6537" "0" "6537" "0" "c.6537del" "r.(?)" "p.(Pro2180Leufs*3)" "48"
"0000766976" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000766977" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000766978" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000766979" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000766980" "00001847" "70" "1022" "0" "1022" "0" "c.1022A>G" "r.(?)" "p.(Glu341Gly)" "8"
"0000766981" "00001847" "90" "1086" "0" "1086" "0" "c.1086T>A" "r.(?)" "p.(Tyr362*)" "8"
"0000766982" "00001847" "70" "4919" "0" "4919" "0" "c.4919G>A" "r.(?)" "p.(Arg1640Gln)" "35"
"0000766983" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000766984" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000766985" "00001847" "70" "5773" "0" "5773" "0" "c.5773A>G" "r.(?)" "p.(Arg1925Gly)" "41"
"0000766986" "00001847" "70" "4457" "0" "4457" "0" "c.4457C>T" "r.(?)" "p.(Pro1486Leu)" "30"
"0000766987" "00001847" "90" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071Cysfs*14)" "22"
"0000766988" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000766989" "00001847" "90" "3819" "0" "3819" "0" "c.3819dup" "r.(?)" "p.(Leu1274Serfs*8)" "26"
"0000766990" "00001847" "70" "4773" "3" "4773" "3" "c.4773+3A>G" "r.[4668_4773del,=]" "p.[Tyr1557Alafs*18,=]" "33i"
"0000766991" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000766992" "00001847" "70" "203" "0" "203" "0" "c.203C>T" "r.(?)" "p.(Pro68Leu)" "3"
"0000766993" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000766994" "00001847" "50" "4926" "0" "4926" "0" "c.4926C>G" "r.(?)" "p.(Ser1642Arg)" "35"
"0000766995" "00001847" "90" "5169" "0" "5169" "0" "c.5169C>G" "r.(?)" "p.(Tyr1723*)" "36"
"0000766996" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000766997" "00001847" "90" "6386" "1" "6386" "1" "c.6386+1G>A" "r.spl" "p.?" "46i"
"0000766998" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000766999" "00001847" "70" "6229" "0" "6229" "0" "c.6229C>T" "r.(?)" "p.(Arg2077Trp)" "45"
"0000767000" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000767001" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000767002" "00001847" "70" "203" "0" "203" "0" "c.203C>T" "r.(?)" "p.(Pro68Leu)" "3"
"0000767003" "00001847" "90" "666" "0" "678" "0" "c.666_678del" "r.(?)" "p.(Lys223Metfs*14)" "6"
"0000767004" "00001847" "90" "3329" "-2" "3329" "-2" "c.3329-2A>G" "r.spl" "p.?" "22i"
"0000767005" "00001847" "90" "666" "0" "678" "0" "c.666_678del" "r.(?)" "p.(Lys223Metfs*14)" "6"
"0000767006" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000767007" "00001847" "70" "2300" "0" "2300" "0" "c.2300T>A" "r.(?)" "p.(Val767Asp)" "15"
"0000767008" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000767009" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.[(768g>u;768_769ins768+1_768+35)]" "p.(Leu257Valfs*17)" "6"
"0000767010" "00001847" "90" "3403" "0" "3403" "0" "c.3403C>T" "r.(?)" "p.(Gln1135*)" "23"
"0000767011" "00001847" "90" "3403" "0" "3403" "0" "c.3403C>T" "r.(?)" "p.(Gln1135*)" "23"
"0000767012" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000767013" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000767014" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000767015" "00001847" "70" "5318" "0" "5318" "0" "c.5318C>T" "r.(?)" "p.(Ala1773Val)" "38"
"0000767016" "00001847" "70" "5318" "0" "5318" "0" "c.5318C>T" "r.(?)" "p.(Ala1773Val)" "38"
"0000767017" "00001847" "70" "6112" "0" "6112" "0" "c.6112C>T" "r.(?)" "p.(Arg2038Trp)" "44"
"0000767018" "00001847" "70" "6112" "0" "6112" "0" "c.6112C>T" "r.(?)" "p.(Arg2038Trp)" "44"
"0000767019" "00001847" "90" "1819" "0" "1819" "0" "c.1819G>A" "r.(?)" "p.(Gly607Arg)" "13"
"0000767020" "00001847" "70" "6095" "0" "6095" "0" "c.6095A>G" "r.(?)" "p.(His2032Arg)" "44"
"0000767021" "00001847" "90" "6088" "0" "6088" "0" "c.6088C>T" "r.(?)" "p.(Arg2030*)" "44"
"0000767022" "00001847" "90" "6088" "0" "6088" "0" "c.6088C>T" "r.(?)" "p.(Arg2030*)" "44"
"0000767023" "00001847" "90" "6088" "0" "6088" "0" "c.6088C>T" "r.(?)" "p.(Arg2030*)" "44"
"0000767024" "00001847" "90" "3328" "1" "3328" "1" "c.3328+1G>C" "r.spl" "p.?" "22i"
"0000767025" "00001847" "90" "3328" "1" "3328" "1" "c.3328+1G>C" "r.spl" "p.?" "22i"
"0000767026" "00001847" "90" "3328" "1" "3328" "1" "c.3328+1G>C" "r.spl" "p.?" "22i"
"0000767027" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000767028" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000767029" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000767030" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000767031" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000767032" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000767033" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000767034" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000767035" "00001847" "70" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" "35"
"0000767036" "00001847" "70" "2461" "0" "2461" "0" "c.2461T>A" "r.(?)" "p.(Trp821Arg)" "16"
"0000767037" "00001847" "90" "885" "0" "885" "0" "c.885del" "r.(?)" "p.(Leu296Cysfs*4)" "8"
"0000767038" "00001847" "70" "5318" "0" "5318" "0" "c.5318C>T" "r.(?)" "p.(Ala1773Val)" "38"
"0000767039" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000767040" "00001847" "90" "1957" "0" "1957" "0" "c.1957C>T" "r.(?)" "p.(Arg653Cys)" "14"
"0000767041" "00001847" "90" "6147" "1" "6147" "1" "c.6147+1G>A" "r.spl" "p.?" "44"
"0000767042" "00001847" "90" "2713" "0" "2713" "0" "c.2713del" "r.(?)" "p.(Glu905Argfs*27)" "18"
"0000767043" "00001847" "90" "3289" "0" "3289" "0" "c.3289A>T" "r.(?)" "p.(Arg1097*)" "22"
"0000767044" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000767045" "00001847" "90" "3081" "0" "3081" "0" "c.3081T>G" "r.(?)" "p.(Tyr1027*)" "21"
"0000767046" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000767047" "00001847" "90" "3259" "0" "3259" "0" "c.3259G>A" "r.(?)" "p.(Glu1087Lys)" "22"
"0000767048" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000767049" "00001847" "90" "1557" "0" "1557" "0" "c.1557C>A" "r.(?)" "p.(Cys519*)" "12"
"0000767050" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000767051" "00001847" "70" "4216" "0" "4216" "0" "c.4216C>T" "r.(?)" "p.(His1406Tyr)" "28"
"0000767052" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000767053" "00001847" "70" "2861" "0" "2861" "0" "c.2861A>C" "r.(?)" "p.(Tyr954Ser)" "19"
"0000767054" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.[(768g>u;768_769ins768+1_768+35)]" "p.(Leu257Valfs*17)" "6"
"0000767055" "00001847" "70" "1906" "0" "1906" "0" "c.1906C>A" "r.(?)" "p.(Gln636Lys)" "13"
"0000767056" "00001847" "90" "21" "0" "21" "0" "c.21dup" "r.(?)" "p.(Gln8Hisfs*33)" "1"
"0000767057" "00001847" "90" "1317" "0" "1317" "0" "c.1317G>A" "r.(?)" "p.(Trp439*)" "10"
"0000767058" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000767059" "00001847" "70" "4363" "0" "4363" "0" "c.4363T>C" "r.(?)" "p.(Cys1455Arg)" "30"
"0000767060" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000767061" "00001847" "70" "1648" "0" "1648" "0" "c.1648G>A" "r.(?)" "p.(Gly550Arg)" "12"
"0000767062" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000767063" "00001847" "70" "3064" "0" "3064" "0" "c.3064G>A" "r.(?)" "p.(Glu1022Lys)" "21"
"0000767064" "00001847" "90" "1760" "0" "1760" "0" "c.1760G>A" "r.(?)" "p.(Arg587Lys,?)" "12"
"0000767065" "00001847" "90" "1903" "0" "1903" "0" "c.1903C>T" "r.(?)" "p.(Gln635*)" "13"
"0000767066" "00001847" "90" "3056" "0" "3056" "0" "c.3056C>T" "r.(?)" "p.(Thr1019Met)" "21"
"0000767067" "00001847" "90" "5018" "2" "5018" "2" "c.5018+2T>C" "r.spl" "p.?" "35i"
"0000767068" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000767069" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000767070" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000767071" "00001847" "90" "1957" "0" "1957" "0" "c.1957C>T" "r.(?)" "p.(Arg653Cys)" "14"
"0000767072" "00001847" "70" "1531" "0" "1531" "0" "c.1531C>T" "r.(?)" "p.(Arg511Cys)" "11"
"0000767073" "00001847" "70" "3197" "0" "3197" "0" "c.3197T>G" "r.(?)" "p.(Met1066Arg)" "22"
"0000767074" "00001847" "70" "1757" "0" "1757" "0" "c.1757A>G" "r.(?)" "p.(Asp586Gly)" "12"
"0000767075" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000767076" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000767077" "00001847" "70" "3385" "0" "3385" "0" "c.3385C>T" "r.(?)" "p.(Arg1129Cys)" "23"
"0000767078" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000767079" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000767080" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000767081" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000767082" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000767083" "00001847" "70" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" "31"
"0000767084" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000767085" "00001847" "90" "571" "-1" "571" "-1" "c.571-1G>T" "r.spl" "p.?" "5i"
"0000767086" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000767087" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000767088" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000767089" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000767090" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000767091" "00001847" "90" "3898" "0" "3898" "0" "c.3898C>T" "r.(?)" "p.(Arg1300*)" "27"
"0000767092" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000767093" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000767094" "00001847" "70" "2461" "0" "2461" "0" "c.2461T>A" "r.(?)" "p.(Trp821Arg)" "16"
"0000767095" "00001847" "90" "247" "0" "250" "0" "c.247_250dup" "r.(?)" "p.(Ser84Thrfs*16)" "3"
"0000767096" "00001847" "50" "5395" "0" "5395" "0" "c.5395A>G" "r.(?)" "p.(Asn1799Asp)" "38"
"0000767097" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000767098" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000767099" "00001847" "70" "6229" "0" "6229" "0" "c.6229C>T" "r.(?)" "p.(Arg2077Trp)" "45"
"0000767100" "00001847" "70" "203" "0" "203" "0" "c.203C>T" "r.(?)" "p.(Pro68Leu)" "3"
"0000767101" "00001847" "70" "203" "0" "203" "0" "c.203C>T" "r.(?)" "p.(Pro68Leu)" "3"
"0000767102" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.[(768g>u;768_769ins768+1_768+35)]" "p.(Leu257Valfs*17)" "6"
"0000767103" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000767104" "00001847" "70" "3335" "0" "3335" "0" "c.3335C>A" "r.(?)" "p.(Thr1112Asn)" "23"
"0000767105" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000767106" "00001847" "50" "5585" "-10" "5585" "-10" "c.5585-10T>C" "r.=" "p.(=)" "39i"
"0000767107" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000767108" "00001847" "90" "2593" "0" "2593" "0" "c.2593dup" "r.(?)" "p.(Tyr865Leufs*20)" "17"
"0000767109" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000767110" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000767111" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000767112" "00001847" "70" "3050" "5" "3050" "5" "c.3050+5G>A" "r.2919_3050del" "p.(Leu973_His1017delinsPhe)" "20i"
"0000767113" "00001847" "90" "2971" "0" "2971" "0" "c.2971G>C" "r.(?)" "p.(Gly991Arg)" "20"
"0000767114" "00001847" "50" "5395" "0" "5395" "0" "c.5395A>G" "r.(?)" "p.(Asn1799Asp)" "38"
"0000767115" "00001847" "70" "6229" "0" "6229" "0" "c.6229C>T" "r.(?)" "p.(Arg2077Trp)" "45"
"0000767116" "00001847" "70" "203" "0" "203" "0" "c.203C>G" "r.(?)" "p.(Pro68Arg)" "3"
"0000767117" "00001847" "50" "658" "0" "658" "0" "c.658C>T" "r.(?)" "p.(Arg220Cys)" "6"
"0000767118" "00001847" "90" "1086" "0" "1086" "0" "c.1086T>A" "r.(?)" "p.(Tyr362*)" "8"
"0000767119" "00001847" "70" "1822" "0" "1822" "0" "c.1822T>A" "r.(?)" "p.(Phe608Ile)" "13"
"0000767120" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000767121" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000767122" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000767123" "00001847" "90" "2966" "0" "2966" "0" "c.2966T>C" "r.(?)" "p.(Val989Ala)" "20"
"0000767124" "00001847" "90" "2966" "0" "2966" "0" "c.2966T>C" "r.(?)" "p.(Val989Ala)" "20"
"0000767125" "00001847" "90" "2966" "0" "2966" "0" "c.2966T>C" "r.(?)" "p.(Val989Ala)" "20"
"0000767126" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000767127" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000767128" "00001847" "90" "3292" "0" "3292" "0" "c.3292C>T" "r.(?)" "p.(Arg1098Cys)" "22"
"0000767129" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000767130" "00001847" "50" "3190" "21" "3190" "21" "c.3190+21A>G" "r.(?)" "p.(?)" "21"
"0000767131" "00001847" "70" "769" "-1" "858" "1" "c.(768+1_769-1)_(858+1_859-1)del" "r.(?)" "p.(?)" "6i_7i"
"0000767132" "00001847" "70" "769" "-1" "858" "1" "c.(768+1_769-1)_(858+1_859-1)del" "r.(?)" "p.(?)" "6i_7i"
"0000767133" "00001847" "90" "5312" "1" "5312" "1" "c.5312+1G>A" "r.spl" "p.?" "37i"
"0000767134" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000767135" "00001847" "90" "6213" "0" "6213" "0" "c.6213C>G" "r.(?)" "p.(Tyr2071*)" "45"
"0000767136" "00001847" "90" "247" "0" "250" "0" "c.247_250dup" "r.(?)" "p.(Ser84Thrfs*16)" "3"
"0000767137" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000767138" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000767139" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000767140" "00001847" "70" "286" "0" "286" "0" "c.286A>G" "r.(?)" "p.(Asn96Asp)" "3"
"0000767141" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000767142" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000767143" "00001847" "50" "455" "0" "455" "0" "c.455G>A" "r.(?)" "p.(Arg152Gln)" "5"
"0000767144" "00001847" "70" "179" "0" "179" "0" "c.179C>T" "r.(?)" "p.(Ala60Val)" "3"
"0000767145" "00001847" "70" "2069" "0" "2069" "0" "c.2069G>T" "r.(?)" "p.(Gly690Val)" "14"
"0000767146" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000767147" "00001847" "70" "1844" "0" "1844" "0" "c.1844T>C" "r.(?)" "p.(Val615Ala)" "13"
"0000767148" "00001847" "70" "286" "0" "286" "0" "c.286A>G" "r.(?)" "p.(Asn96Asp)" "3"
"0000767149" "00001847" "90" "247" "0" "250" "0" "c.247_250dup" "r.(?)" "p.(Ser84Thrfs*16)" "3"
"0000767150" "00001847" "70" "4342" "0" "4343" "0" "c.4342_4343delinsAA" "r.(?)" "p.(Gly1448Lys)" "29"
"0000767151" "00001847" "90" "4538" "0" "4539" "0" "c.4538_4539insC" "r.(?)" "p.(Gln1513Hisfs*42)" "30"
"0000767152" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000767153" "00001847" "70" "286" "0" "286" "0" "c.286A>G" "r.(?)" "p.(Asn96Asp)" "3"
"0000767154" "00001847" "90" "4234" "0" "4234" "0" "c.4234C>T" "r.(?)" "p.(Gln1412*)" "28"
"0000767155" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000767156" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000767157" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000767158" "00001847" "90" "6329" "0" "6329" "0" "c.6329G>A" "r.(?)" "p.(Trp2110*)" "46"
"0000767159" "00001847" "70" "4793" "0" "4793" "0" "c.4793C>A" "r.(?)" "p.(Ala1598Asp)" "34"
"0000767160" "00001847" "50" "5584" "14" "5584" "14" "c.5584+14G>A" "r.(?)" "p.(?)" "39i"
"0000767161" "00001847" "90" "6445" "0" "6445" "0" "c.6445C>T" "r.(?)" "p.(Arg2149*)" "47"
"0000767162" "00001847" "90" "3050" "1" "3050" "1" "c.3050+1G>A" "r.(?)" "p.(?)" "20i"
"0000767163" "00001847" "90" "1760" "2" "1760" "2" "c.1760+2T>G" "r.spl" "p.?" "12i"
"0000767164" "00001847" "90" "1957" "0" "1957" "0" "c.1957C>T" "r.(?)" "p.(Arg653Cys)" "14"
"0000767165" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000767166" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000767167" "00001847" "90" "2055" "0" "2055" "0" "c.2055del" "r.(?)" "p.(Leu686*)" "14"
"0000767168" "00001847" "70" "1646" "0" "1646" "0" "c.1646C>A" "r.(?)" "p.(Ala549Asp)" "12"
"0000767169" "00001847" "70" "3055" "0" "3055" "0" "c.3055A>G" "r.(?)" "p.(Thr1019Ala)" "21"
"0000767170" "00001847" "70" "52" "0" "52" "0" "c.52C>T" "r.(?)" "p.(Arg18Trp)" "1"
"0000767171" "00001847" "50" "2690" "0" "2690" "0" "c.2690C>T" "r.(?)" "p.(Thr897Ile)" "18"
"0000767172" "00001847" "90" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973*)" "43"
"0000767173" "00001847" "50" "161" "-5" "161" "-5" "c.161-5T>C" "r.(?)" "p.(?)" "2i"
"0000767174" "00001847" "70" "6342" "0" "6342" "0" "c.6342G>A" "r.(?)" "p.(=)" "46"
"0000767175" "00001847" "70" "4793" "0" "4793" "0" "c.4793C>A" "r.(?)" "p.(Ala1598Asp)" "34"
"0000767176" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000767177" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000767178" "00001847" "70" "4573" "0" "4573" "0" "c.4573C>G" "r.(?)" "p.(Leu1525Val)" "31"
"0000767179" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000767180" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000767181" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000767182" "00001847" "70" "3323" "0" "3323" "0" "c.3323G>A" "r.(?)" "p.(Arg1108His)" "22"
"0000767183" "00001847" "50" "4519" "0" "4519" "0" "c.4519G>A" "r.(?)" "p.(Gly1507Arg)" "30"
"0000767184" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000767185" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000767186" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000767187" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000767188" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000767189" "00001847" "90" "1462" "0" "1462" "0" "c.1462G>T" "r.(?)" "p.(Glu488*)" "11"
"0000767190" "00001847" "70" "2300" "0" "2300" "0" "c.2300T>A" "r.(?)" "p.(Val767Asp)" "15"
"0000767191" "00001847" "70" "194" "0" "194" "0" "c.194G>A" "r.(?)" "p.(Gly65Glu)" "3"
"0000767192" "00001847" "90" "3392" "0" "3393" "0" "c.3392_3393delinsG" "r.(?)" "p.(Ala1131Glyfs*17)" "23"
"0000767193" "00001847" "90" "885" "0" "885" "0" "c.885del" "r.(?)" "p.(Leu296Cysfs*4)" "8"
"0000767194" "00001847" "90" "6658" "0" "6658" "0" "c.6658C>T" "r.(?)" "p.(Gln2220*)" "48"
"0000767195" "00001847" "90" "6658" "0" "6658" "0" "c.6658C>T" "r.(?)" "p.(Gln2220*)" "48"
"0000767196" "00001847" "90" "6658" "0" "6658" "0" "c.6658C>T" "r.(?)" "p.(Gln2220*)" "48"
"0000767197" "00001847" "90" "6658" "0" "6658" "0" "c.6658C>T" "r.(?)" "p.(Gln2220*)" "48"
"0000767198" "00001847" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408*)" "9"
"0000767199" "00001847" "90" "2713" "0" "2713" "0" "c.2713del" "r.(?)" "p.(Glu905Argfs*27)" "18"
"0000767200" "00001847" "90" "3081" "0" "3081" "0" "c.3081T>G" "r.(?)" "p.(Tyr1027*)" "21"
"0000767201" "00001847" "90" "3081" "0" "3081" "0" "c.3081T>G" "r.(?)" "p.(Tyr1027*)" "21"
"0000767202" "00001847" "90" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973*)" "43"
"0000767203" "00001847" "90" "3898" "0" "3898" "0" "c.3898C>T" "r.(?)" "p.(Arg1300*)" "27"
"0000767204" "00001847" "90" "1497" "0" "1497" "0" "c.1497G>A" "r.(?)" "p.(Trp499*)" "11"
"0000767205" "00001847" "90" "6658" "0" "6658" "0" "c.6658C>T" "r.(?)" "p.(Gln2220*)" "48"
"0000767206" "00001847" "90" "6658" "0" "6658" "0" "c.6658C>T" "r.(?)" "p.(Gln2220*)" "48"
"0000767207" "00001847" "90" "6658" "0" "6658" "0" "c.6658C>T" "r.(?)" "p.(Gln2220*)" "48"
"0000767208" "00001847" "90" "6088" "0" "6088" "0" "c.6088C>T" "r.(?)" "p.(Arg2030*)" "44"
"0000767209" "00001847" "90" "3289" "0" "3289" "0" "c.3289A>T" "r.(?)" "p.(Arg1097*)" "22"
"0000767210" "00001847" "90" "1317" "0" "1317" "0" "c.1317G>A" "r.(?)" "p.(Trp439*)" "10"
"0000767211" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000767212" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000767213" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000767214" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000767215" "00001847" "90" "6479" "1" "6479" "1" "c.6479+1G>A" "r.spl" "p.?" "47i"
"0000767216" "00001847" "90" "6479" "1" "6479" "1" "c.6479+1G>A" "r.spl" "p.?" "47i"
"0000767217" "00001847" "70" "4253" "4" "4253" "4" "c.4253+4C>T" "r.4129_4253del" "p.(Ile1377Hisfs*3)" "28i"
"0000767218" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000767219" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000767220" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.[(768g>u;768_769ins768+1_768+35)]" "p.(Leu257Valfs*17)" "6"
"0000767221" "00001847" "70" "6729" "5" "6729" "19" "c.6729+5_6729+19del" "r.6480_6729del" "p.(Phe2161Cysfs*3)" "48i"
"0000767222" "00001847" "70" "6729" "5" "6729" "19" "c.6729+5_6729+19del" "r.6480_6729del" "p.(Phe2161Cysfs*3)" "48i"
"0000767223" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000767224" "00001847" "90" "6817" "-2" "6817" "-2" "c.6817-2A>C" "r.spl" "p.?" "49i"
"0000767225" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000767226" "00001847" "90" "5196" "1" "5196" "1" "c.5196+1G>A" "r.spl" "p.?" "36i"
"0000767227" "00001847" "90" "5196" "1" "5196" "1" "c.5196+1G>A" "r.spl" "p.?" "36i"
"0000767228" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000767229" "00001847" "70" "6729" "5" "6729" "19" "c.6729+5_6729+19del" "r.6480_6729del" "p.(Phe2161Cysfs*3)" "48i"
"0000767230" "00001847" "70" "6729" "5" "6729" "19" "c.6729+5_6729+19del" "r.6480_6729del" "p.(Phe2161Cysfs*3)" "48i"
"0000767231" "00001847" "70" "6729" "5" "6729" "19" "c.6729+5_6729+19del" "r.6480_6729del" "p.(Phe2161Cysfs*3)" "48i"
"0000767232" "00001847" "70" "6729" "5" "6729" "19" "c.6729+5_6729+19del" "r.6480_6729del" "p.(Phe2161Cysfs*3)" "48i"
"0000767233" "00001847" "70" "859" "-9" "859" "-9" "c.859-9T>C" "r.[=,859_1356del]" "p.[=,Phe287_Arg452del]" "7i"
"0000767234" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000767235" "00001847" "70" "859" "-9" "859" "-9" "c.859-9T>C" "r.[=,859_1356del]" "p.[=,Phe287_Arg452del]" "7i"
"0000767236" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000767237" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000767238" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000767239" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000767240" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000767241" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000767242" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000767243" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000767244" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000767245" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000767246" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000767247" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000767248" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000767249" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000767250" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000767251" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000767252" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000767253" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000767254" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000767255" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000767256" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000767257" "00001847" "70" "3364" "0" "3364" "0" "c.3364G>A" "r.(?)" "p.(Glu1122Lys)" "23"
"0000767258" "00001847" "70" "4363" "0" "4363" "0" "c.4363T>C" "r.(?)" "p.(Cys1455Arg)" "30"
"0000767259" "00001847" "90" "4539" "1" "4539" "1" "c.4539+1G>T" "r.spl" "p.?" "30i"
"0000767260" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000767261" "00001847" "70" "3335" "0" "3335" "0" "c.3335C>A" "r.(?)" "p.(Thr1112Asn)" "23"
"0000767262" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000767263" "00001847" "70" "2757" "0" "2757" "0" "c.2757A>C" "r.(?)" "p.(Glu919Asp)" "19"
"0000767264" "00001847" "70" "4462" "0" "4462" "0" "c.4462T>C" "r.(?)" "p.(Cys1488Arg)" "30"
"0000767265" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000767266" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000767267" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000767268" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000767269" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000767270" "00001847" "70" "1822" "0" "1822" "0" "c.1822T>A" "r.(?)" "p.(Phe608Ile)" "13"
"0000767271" "00001847" "90" "5161" "0" "5162" "0" "c.5161_5162del" "r.(?)" "p.(Thr1721Hisfs*65)" "36"
"0000767272" "00001847" "90" "4506" "0" "4506" "0" "c.4506C>A" "r.(?)" "p.(Cys1502*)" "30"
"0000767273" "00001847" "70" "2300" "0" "2300" "0" "c.2300T>A" "r.(?)" "p.(Val767Asp)" "15"
"0000767274" "00001847" "70" "6449" "0" "6449" "0" "c.6449G>A" "r.(?)" "p.(Cys2150Tyr)" "47"
"0000767275" "00001847" "50" "1335" "0" "1335" "0" "c.1335C>G" "r.(?)" "p.(Ser445Arg)" "10"
"0000767276" "00001847" "90" "1302" "0" "1302" "0" "c.1302del" "r.(?)" "p.(Gln437Argfs*12)" "10"
"0000767277" "00001847" "70" "2549" "0" "2549" "0" "c.2549A>G" "r.(?)" "p.(Tyr850Cys)" "16"
"0000767278" "00001847" "90" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071Cysfs*14)" "22"
"0000767279" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000767280" "00001847" "90" "443" "-2" "443" "-2" "c.443-2A>G" "r.(?)" "p.(?)" "4i"
"0000767281" "00001847" "70" "1807" "0" "1807" "0" "c.1807T>C" "r.(?)" "p.(Tyr603His)" "13"
"0000767282" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000767283" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000767284" "00001847" "70" "3173" "0" "3189" "0" "c.3173_3189delinsGTTGT" "r.(?)" "p.(Glu1058_Ser1063delinsGlyCys)" "21"
"0000767285" "00001847" "70" "4163" "0" "4163" "0" "c.4163T>C" "r.(?)" "p.(Leu1388Pro)" "28"
"0000767286" "00001847" "10" "3899" "0" "3899" "0" "c.3899G>A" "r.(?)" "p.(Arg1300Gln)" "27"
"0000767287" "00001847" "70" "6545" "0" "6580" "0" "c.6545_6580del" "r.(?)" "p.(Leu2182_Phe2193del)" "48"
"0000767288" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000767289" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000767290" "00001847" "90" "2005" "0" "2006" "0" "c.2005_2006del" "r.(?)" "p.(Met669Aspfs*96)" "14"
"0000767291" "00001847" "50" "4195" "0" "4195" "0" "c.4195G>A" "r.(?)" "p.(Glu1399Lys)" "28"
"0000767292" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000767293" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000767294" "00001847" "90" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973*)" "43"
"0000767295" "00001847" "90" "1714" "0" "1714" "0" "c.1714C>T" "r.(?)" "p.(Arg572*)" "12"
"0000767296" "00001847" "50" "6190" "0" "6190" "0" "c.6190G>A" "r.(?)" "p.(Ala2064Thr)" "45"
"0000767297" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000767298" "00001847" "90" "885" "0" "885" "0" "c.885del" "r.(?)" "p.(Leu296Cysfs*4)" "8"
"0000767299" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000767300" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000767301" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000767302" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000767303" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000767304" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000767305" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000767306" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000767307" "00001847" "90" "454" "0" "454" "0" "c.454C>T" "r.(?)" "p.(Arg152*)" "5"
"0000767308" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000767309" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000767310" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000767311" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000767312" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000767313" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000767314" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000767315" "00001847" "70" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" "44"
"0000767316" "00001847" "70" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" "44"
"0000767317" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000767318" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000767319" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000767320" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000767321" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000767322" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000767323" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000767324" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000767325" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000767326" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000767327" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000767328" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000767329" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000767330" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000767331" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000767332" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000767333" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000767334" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000767335" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000767336" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000767337" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000767338" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000767339" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000767340" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000767341" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000767342" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000767343" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000767344" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000767345" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000767346" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000767347" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000767348" "00001847" "70" "71" "0" "71" "0" "c.71G>A" "r.(?)" "p.(Met1Ile)" "2"
"0000767349" "00001847" "90" "2345" "0" "2345" "0" "c.2345G>A" "r.(?)" "p.(Trp782*)" "15"
"0000767350" "00001847" "90" "4832" "0" "4832" "0" "c.4832del" "r.(?)" "p.(Thr1611Metfs*51)" "34"
"0000767351" "00001847" "90" "4832" "0" "4832" "0" "c.4832del" "r.(?)" "p.(Thr1611Metfs*51)" "34"
"0000767352" "00001847" "70" "5819" "0" "5819" "0" "c.5819T>C" "r.(?)" "p.(Leu1940Pro)" "41"
"0000767353" "00001847" "90" "1957" "0" "1957" "0" "c.1957C>T" "r.(?)" "p.(Arg653Cys)" "14"
"0000767354" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000767355" "00001847" "70" "3278" "0" "3278" "0" "c.3278A>G" "r.(?)" "p.(Asp1093Gly)" "22"
"0000767356" "00001847" "90" "2565" "0" "2565" "0" "c.2565G>A" "r.(?)" "p.(Trp855*)" "16"
"0000767357" "00001847" "50" "2791" "0" "2791" "0" "c.2791G>A" "r.(?)" "p.(Val931Met)" "19"
"0000767358" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000767359" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000767360" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000767361" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000767362" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000767363" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000767364" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000767365" "00001847" "90" "6316" "0" "6316" "0" "c.6316C>T" "r.(?)" "p.(Arg2106Cys)" "46"
"0000767366" "00001847" "50" "230" "0" "230" "0" "c.230T>A" "r.(?)" "p.(Val77Glu)" "3"
"0000767367" "00001847" "90" "5227" "0" "5227" "0" "c.5227del" "r.(?)" "p.(Val1743Trpfs*35)" "37"
"0000767368" "00001847" "70" "2537" "0" "2537" "0" "c.2537A>T" "r.(?)" "p.(Asp846Val)" "16"
"0000767369" "00001847" "90" "895" "0" "895" "0" "c.895del" "r.(?)" "p.(Val299*)" "8"
"0000767370" "00001847" "70" "1805" "0" "1805" "0" "c.1805G>A" "r.(?)" "p.(Arg602Gln)" "13"
"0000767371" "00001847" "70" "3064" "0" "3064" "0" "c.3064G>A" "r.(?)" "p.(Glu1022Lys)" "21"
"0000767372" "00001847" "70" "4892" "0" "4892" "0" "c.4892T>C" "r.(?)" "p.(Leu1631Pro)" "35"
"0000767373" "00001847" "70" "702" "0" "703" "0" "c.702_703insATC" "r.(?)" "p.(Gln234_Gly235insIle)" "6"
"0000767374" "00001847" "70" "2552" "0" "2552" "0" "c.2552G>A" "r.(?)" "p.(Gly851Asp)" "16"
"0000767375" "00001847" "50" "5206" "0" "5206" "0" "c.5206T>C" "r.(?)" "p.(Ser1736Pro)" "37"
"0000767376" "00001847" "70" "3295" "0" "3295" "0" "c.3295T>C" "r.(?)" "p.(Ser1099Pro)" "22"
"0000767377" "00001847" "50" "2804" "0" "2804" "0" "c.2804T>C" "r.(?)" "p.(Val935Ala)" "19"
"0000767378" "00001847" "70" "1823" "0" "1823" "0" "c.1823T>A" "r.(?)" "p.(Phe608Tyr)" "13"
"0000767379" "00001847" "70" "1007" "0" "1007" "0" "c.1007C>G" "r.(?)" "p.(Ser336Cys)" "8"
"0000767380" "00001847" "90" "1356" "0" "1356" "0" "c.1356del" "r.(?)" "p.(Asp453Ilefs*8)" "10"
"0000767381" "00001847" "70" "1343" "0" "1345" "0" "c.1343_1345del" "r.(?)" "p.(Met448del)" "10"
"0000767382" "00001847" "70" "428" "0" "428" "0" "c.428C>T" "r.(?)" "p.(Pro143Leu)" "4"
"0000767383" "00001847" "90" "231" "0" "232" "0" "c.231_232insGAAAA" "r.(?)" "p.(Asn78Glufs*39)" "3"
"0000767384" "00001847" "70" "1715" "0" "1715" "0" "c.1715G>A" "r.(?)" "p.(Arg572Gln)" "12"
"0000767385" "00001847" "90" "2409" "0" "2410" "0" "c.2409_2410del" "r.(?)" "p.(Phe804Trpfs*3)" "16"
"0000767386" "00001847" "70" "2919" "-1" "3328" "1" "c.(2918+1_2919-1)_(3328+1_3329-1)del" "r.(?)" "p.(?)" "19i_22i"
"0000767387" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.[(768g>u;768_769ins768+1_768+35)]" "p.(Leu257Valfs*17)" "6"
"0000767388" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.[(768g>u;768_769ins768+1_768+35)]" "p.(Leu257Valfs*17)" "6"
"0000767389" "00001847" "90" "2409" "0" "2410" "0" "c.2409_2410del" "r.(?)" "p.(Phe804Trpfs*3)" "16"
"0000767390" "00001847" "70" "1853" "0" "1853" "0" "c.1853G>A" "r.(?)" "p.(Gly618Glu)" "13"
"0000767391" "00001847" "70" "1822" "0" "1822" "0" "c.1822T>A" "r.(?)" "p.(Phe608Ile)" "13"
"0000767392" "00001847" "90" "4506" "0" "4506" "0" "c.4506C>A" "r.(?)" "p.(Cys1502*)" "30"
"0000767393" "00001847" "70" "3233" "0" "3233" "0" "c.3233G>A" "r.(?)" "p.(Gly1078Glu)" "22"
"0000767394" "00001847" "90" "5337" "0" "5337" "0" "c.5337C>A" "r.(?)" "p.(Tyr1779*)" "38"
"0000767395" "00001847" "90" "5762" "0" "5763" "0" "c.5762_5763dup" "r.(?)" "p.(Ala1922Trpfs*18)" "41"
"0000767396" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000767397" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000767398" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000767399" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000767400" "00001847" "90" "6088" "0" "6088" "0" "c.6088C>T" "r.(?)" "p.(Arg2030*)" "44"
"0000767401" "00001847" "90" "2409" "0" "2410" "0" "c.2409_2410del" "r.(?)" "p.(Phe804Trpfs*3)" "16"
"0000767402" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000767403" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.[(768g>u;768_769ins768+1_768+35)]" "p.(Leu257Valfs*17)" "6"
"0000767404" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.[(768g>u;768_769ins768+1_768+35)]" "p.(Leu257Valfs*17)" "6"
"0000767405" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000767406" "00001847" "90" "4773" "1" "4773" "1" "c.4773+1G>A" "r.spl" "p.?" "33i"
"0000767407" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000767408" "00001847" "70" "6428" "0" "6428" "0" "c.6428T>G" "r.(?)" "p.(Leu2140Arg)" "47"
"0000767409" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000767410" "00001847" "90" "3874" "0" "3874" "0" "c.3874C>T" "r.(?)" "p.(Gln1292*)" "27"
"0000767411" "00001847" "70" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.[=,5196_5197ins5196+1140_5196+1212]" "p.[=,Met1733Glufs*78]" "36i"
"0000767412" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.[(768g>u;768_769ins768+1_768+35)]" "p.(Leu257Valfs*17)" "6"
"0000767413" "00001847" "70" "1822" "0" "1822" "0" "c.1822T>A" "r.(?)" "p.(Phe608Ile)" "13"
"0000767414" "00001847" "70" "2919" "-1" "3328" "1" "c.(2918+1_2919-1)_(3328+1_3329-1)del" "r.(?)" "p.(?)" "19i_22i"
"0000767415" "00001847" "90" "4773" "1" "4773" "1" "c.4773+1G>A" "r.spl" "p.?" "33i"
"0000767416" "00001847" "90" "4128" "1" "4128" "1" "c.4128+1G>A" "r.spl" "p.?" "27i"
"0000767417" "00001847" "90" "4128" "1" "4128" "1" "c.4128+1G>A" "r.spl" "p.?" "27i"
"0000767418" "00001847" "90" "2160" "1" "2160" "1" "c.2160+1G>T" "r.spl" "p.?" "14i"
"0000767419" "00001847" "90" "4540" "-2" "4540" "-2" "c.4540-2A>G" "r.spl" "p.?" "30i"
"0000767420" "00001847" "90" "3259" "0" "3259" "0" "c.3259G>A" "r.(?)" "p.(Glu1087Lys)" "22"
"0000767421" "00001847" "90" "5762" "0" "5763" "0" "c.5762_5763dup" "r.(?)" "p.(Ala1922Trpfs*18)" "41"
"0000767422" "00001847" "70" "294" "0" "294" "0" "c.294C>G" "r.(?)" "p.(Asn98Lys)" "3"
"0000767423" "00001847" "90" "564" "0" "564" "0" "c.564del" "r.(?)" "p.(Glu189Serfs*12)" "5"
"0000767424" "00001847" "70" "3395" "0" "3395" "0" "c.3395T>C" "r.(?)" "p.(Ile1132Thr)" "23"
"0000767425" "00001847" "70" "1237" "0" "1237" "0" "c.1237A>T" "r.(?)" "p.(Asn413Tyr)" "9"
"0000767426" "00001847" "50" "677" "0" "677" "0" "c.677G>T" "r.(?)" "p.(Arg226Leu)" "6"
"0000767427" "00001847" "70" "3547" "0" "3547" "0" "c.3547G>T" "r.(?)" "p.(Gly1183Cys)" "24"
"0000767428" "00001847" "70" "5137" "0" "5137" "0" "c.5137C>A" "r.(?)" "p.(Gln1713Lys)" "36"
"0000767429" "00001847" "70" "5137" "0" "5137" "0" "c.5137C>G" "r.(?)" "p.(Gln1713Glu)" "36"
"0000767430" "00001847" "70" "3279" "0" "3279" "0" "c.3279C>A" "r.(?)" "p.(Asp1093Glu)" "22"
"0000767431" "00001847" "70" "4504" "0" "4504" "0" "c.4504T>G" "r.(?)" "p.(Cys1502Gly)" "30"
"0000767432" "00001847" "70" "5447" "0" "5447" "0" "c.5447T>C" "r.(?)" "p.(Phe1816Ser)" "38"
"0000767433" "00001847" "90" "853" "0" "853" "0" "c.853C>T" "r.(?)" "p.(Gln285*)" "7"
"0000767434" "00001847" "70" "1677" "0" "1677" "0" "c.1677G>C" "r.(?)" "p.(Trp559Cys)" "12"
"0000767435" "00001847" "70" "1861" "0" "1861" "0" "c.1861A>G" "r.(?)" "p.(Arg621Gly)" "13"
"0000767436" "00001847" "50" "2852" "0" "2852" "0" "c.2852T>C" "r.(?)" "p.(Ile951Thr)" "19"
"0000767437" "00001847" "70" "4556" "0" "4556" "0" "c.4556C>T" "r.(?)" "p.(Thr1519Met)" "31"
"0000767438" "00001847" "50" "5391" "0" "5391" "0" "c.5391T>C" "r.(?)" "p.(Cys1797=)" "38"
"0000767439" "00001847" "90" "3871" "0" "3871" "0" "c.3871C>T" "r.(?)" "p.(Gln1291*)" "27"
"0000767440" "00001847" "70" "3211" "0" "3211" "0" "c.3211T>C" "r.(?)" "p.(Ser1071Pro)" "22"
"0000767441" "00001847" "50" "4326" "0" "4326" "0" "c.4326C>A" "r.(?)" "p.(Asn1442Lys)" "29"
"0000767442" "00001847" "90" "5176" "0" "5177" "0" "c.5176_5177insG" "r.(?)" "p.(Thr1726Serfs*61)" "36"
"0000767443" "00001847" "30" "302" "26" "302" "26" "c.302+26A>G" "r.(?)" "p.(?)" "3i"
"0000767444" "00001847" "90" "4216" "0" "4216" "0" "c.4216del" "r.(?)" "p.(His1406Thrfs*30)" "28"
"0000767445" "00001847" "70" "3017" "0" "3017" "0" "c.3017G>T" "r.(?)" "p.(Gly1006Val)" "20"
"0000767446" "00001847" "90" "655" "0" "655" "0" "c.655A>T" "r.(?)" "p.(Arg219*)" "6"
"0000767447" "00001847" "90" "2971" "0" "2971" "0" "c.2971G>C" "r.(?)" "p.(Gly991Arg)" "20"
"0000767448" "00001847" "70" "1529" "0" "1529" "0" "c.1529T>C" "r.(?)" "p.(Leu510Pro)" "11"
"0000767449" "00001847" "70" "5646" "0" "5646" "0" "c.5646G>A" "r.(?)" "p.(Met1882Ile)" "40"
"0000767450" "00001847" "70" "5646" "0" "5646" "0" "c.5646G>A" "r.(?)" "p.(Met1882Ile)" "40"
"0000767451" "00001847" "70" "5646" "0" "5646" "0" "c.5646G>A" "r.(?)" "p.(Met1882Ile)" "40"
"0000767452" "00001847" "90" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.(Met1Val)" "1"
"0000767453" "00001847" "90" "45" "0" "45" "0" "c.45G>A" "r.(?)" "p.(Trp15*)" "1"
"0000767454" "00001847" "70" "52" "0" "52" "0" "c.52C>T" "r.(?)" "p.(Arg18Trp)" "1"
"0000767455" "00001847" "90" "67" "-2" "67" "-2" "c.67-2A>G" "r.spl" "p.?" "1i"
"0000767456" "00001847" "90" "67" "-1" "67" "-1" "c.67-1G>C" "r.spl" "p.?" "1i"
"0000767457" "00001847" "70" "86" "0" "86" "0" "c.86T>G" "r.(?)" "p.(Arg24His)" "2"
"0000767458" "00001847" "90" "122" "0" "122" "0" "c.122G>A" "r.(?)" "p.(Trp41*)" "2"
"0000767459" "00001847" "50" "160" "0" "160" "0" "c.160T>G" "r.(?)" "p.(Cys54Gly,?)" "2"
"0000767460" "00001847" "90" "160" "2" "160" "2" "c.160+2T>C" "r.spl" "p.?" "2i"
"0000767461" "00001847" "70" "161" "0" "161" "0" "c.161G>A" "r.[161_302del,161g>a]" "p.[Cys54Serfs*14,Cys54Tyr]" "3"
"0000767462" "00001847" "70" "179" "0" "179" "0" "c.179C>T" "r.(?)" "p.(Ala60Val)" "3"
"0000767463" "00001847" "50" "180" "0" "180" "0" "c.180G>C" "r.(?)" "p.(Ala60=)" "3"
"0000767464" "00001847" "70" "194" "0" "194" "0" "c.194G>A" "r.(?)" "p.(Gly65Glu)" "3"
"0000767465" "00001847" "70" "203" "0" "203" "0" "c.203C>G" "r.(?)" "p.(Pro68Arg)" "3"
"0000767466" "00001847" "90" "206" "0" "206" "0" "c.206G>A" "r.(?)" "p.(Trp69*)" "3"
"0000767467" "00001847" "90" "296" "0" "296" "0" "c.296dup" "r.(?)" "p.(Asn99Lysfs*62)" "3"
"0000767468" "00001847" "50" "317" "0" "317" "0" "c.317A>T" "r.(?)" "p.(Tyr106Phe)" "4"
"0000767469" "00001847" "90" "454" "0" "454" "0" "c.454C>T" "r.(?)" "p.(Arg152*)" "5"
"0000767470" "00001847" "50" "455" "0" "455" "0" "c.455G>A" "r.(?)" "p.(Arg152Gln)" "5"
"0000767471" "00001847" "10" "635" "0" "635" "0" "c.635G>A" "r.(?)" "p.(Arg212His)" "6"
"0000767472" "00001847" "50" "656" "0" "656" "0" "c.656G>C" "r.(?)" "p.(Arg219Thr)" "6"
"0000767473" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.[(768g>u;768_769ins768+1_768+35)]" "p.(Leu257Valfs*17)" "6"
"0000767474" "00001847" "70" "956" "0" "956" "0" "c.956T>G" "r.(?)" "p.(Leu319Arg)" "8"
"0000767475" "00001847" "50" "981" "0" "981" "0" "c.981C>T" "r.(?)" "p.(Pro327=)" "8"
"0000767476" "00001847" "70" "1009" "0" "1009" "0" "c.1009T>C" "r.(?)" "p.(Phe337Leu)" "8"
"0000767477" "00001847" "50" "1029" "0" "1029" "0" "c.1029T>C" "r.(?)" "p.(Asn343=)" "8"
"0000767478" "00001847" "90" "1086" "0" "1086" "0" "c.1086T>A" "r.(?)" "p.(Tyr362*)" "8"
"0000767479" "00001847" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408*)" "9"
"0000767480" "00001847" "90" "1239" "1" "1239" "1" "c.1239+1G>C" "r.spl" "p.?" "9i"
"0000767481" "00001847" "10" "1268" "0" "1268" "0" "c.1268A>G" "r.(?)" "p.(His423Arg)" "10"
"0000767482" "00001847" "10" "1269" "0" "1269" "0" "c.1269C>T" "r.(?)" "p.(His423=)" "10"
"0000767483" "00001847" "90" "1293" "0" "1293" "0" "c.1293G>A" "r.(?)" "p.(Trp431*)" "10"
"0000767484" "00001847" "90" "1357" "-2" "1357" "-2" "c.1357-2A>G" "r.spl" "p.?" "10i"
"0000767485" "00001847" "50" "1500" "0" "1500" "0" "c.1500G>A" "r.(?)" "p.(Arg500=)" "11"
"0000767486" "00001847" "90" "1584" "0" "1584" "0" "c.1584C>A" "r.(?)" "p.(Tyr528*)" "12"
"0000767487" "00001847" "70" "1609" "0" "1609" "0" "c.1609C>T" "r.(?)" "p.(Arg537Cys)" "12"
"0000767488" "00001847" "50" "1614" "0" "1614" "0" "c.1614C>T" "r.(?)" "p.(Ala538=)" "12"
"0000767489" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000767490" "00001847" "50" "1654" "0" "1654" "0" "c.1654G>A" "r.(?)" "p.(Val552Ile)" "12"
"0000767491" "00001847" "50" "1692" "0" "1692" "0" "c.1692A>G" "r.(?)" "p.(Pro564=)" "12"
"0000767492" "00001847" "70" "1715" "0" "1715" "0" "c.1715G>A" "r.(?)" "p.(Arg572Gln)" "12"
"0000767493" "00001847" "70" "1719" "0" "1719" "0" "c.1719G>A" "r.(?)" "p.(Met573Ile)" "12"
"0000767494" "00001847" "50" "1789" "0" "1789" "0" "c.1789C>T" "r.(?)" "p.(Pro597Ser)" "13"
"0000767495" "00001847" "70" "1793" "0" "1793" "0" "c.1793T>G" "r.(?)" "p.(Val598Gly)" "13"
"0000767496" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000767497" "00001847" "90" "1819" "0" "1819" "0" "c.1819G>A" "r.(?)" "p.(Gly607Arg)" "13"
"0000767498" "00001847" "70" "1822" "0" "1822" "0" "c.1822T>A" "r.(?)" "p.(Phe608Ile)" "13"
"0000767499" "00001847" "70" "1891" "0" "1891" "0" "c.1891G>A" "r.(?)" "p.(Gly631Arg)" "13"
"0000767500" "00001847" "90" "1903" "0" "1903" "0" "c.1903C>T" "r.(?)" "p.(Gln635*)" "13"
"0000767501" "00001847" "70" "1918" "0" "1918" "0" "c.1918C>G" "r.(?)" "p.(Pro640Ala)" "13"
"0000767502" "00001847" "50" "1928" "0" "1928" "0" "c.1928T>G" "r.(?)" "p.(Val643Gly)" "13"
"0000767503" "00001847" "90" "1937" "1" "1937" "1" "c.1937+1G>A" "r.spl" "p.?" "13i"
"0000767504" "00001847" "90" "1957" "0" "1957" "0" "c.1957C>T" "r.(?)" "p.(Arg653Cys)" "14"
"0000767505" "00001847" "50" "1964" "0" "1964" "0" "c.1964T>G" "r.(?)" "p.(Phe655Cys)" "14"
"0000767506" "00001847" "90" "2041" "0" "2041" "0" "c.2041C>T" "r.(?)" "p.(Arg681*)" "14"
"0000767507" "00001847" "90" "2160" "1" "2160" "1" "c.2160+1G>T" "r.spl" "p.?" "14i"
"0000767508" "00001847" "70" "2291" "0" "2291" "0" "c.2291G>A" "r.(?)" "p.(Cys764Tyr)" "15"
"0000767509" "00001847" "70" "2300" "0" "2300" "0" "c.2300T>A" "r.(?)" "p.(Val767Asp)" "15"
"0000767510" "00001847" "90" "2564" "0" "2564" "0" "c.2564G>A" "r.(?)" "p.(Trp855*)" "16"
"0000767511" "00001847" "50" "2588" "-12" "2588" "-12" "c.2588-12C>G" "r.=" "p.(=)" "16i"
"0000767512" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000767513" "00001847" "70" "2609" "0" "2609" "0" "c.2609C>T" "r.(?)" "p.(Pro870Leu)" "17"
"0000767514" "00001847" "50" "2690" "0" "2690" "0" "c.2690C>T" "r.(?)" "p.(Thr897Ile)" "18"
"0000767515" "00001847" "90" "2692" "0" "2692" "0" "c.2692G>T" "r.(?)" "p.(Glu898*)" "18"
"0000767516" "00001847" "10" "2828" "0" "2828" "0" "c.2828G>A" "r.(?)" "p.(Arg943Gln)" "19"
"0000767517" "00001847" "70" "2875" "0" "2875" "0" "c.2875A>G" "r.(?)" "p.(Thr959Ala)" "19"
"0000767518" "00001847" "50" "2877" "0" "2877" "0" "c.2877C>T" "r.(?)" "p.(Thr959=)" "19"
"0000767519" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000767520" "00001847" "70" "2919" "-10" "2919" "-10" "c.2919-10T>C" "r.[2919_3050del,=]" "p.[Leu973_His1017delinsPhe,=]" "19i"
"0000767521" "00001847" "70" "2940" "0" "2940" "0" "c.2940G>C" "r.(?)" "p.(Leu980Phe)" "20"
"0000767522" "00001847" "70" "3064" "0" "3064" "0" "c.3064G>A" "r.(?)" "p.(Glu1022Lys)" "21"
"0000767523" "00001847" "90" "3085" "0" "3085" "0" "c.3085C>T" "r.(?)" "p.(Gln1029*)" "21"
"0000767524" "00001847" "90" "3093" "0" "3093" "0" "c.3093del" "r.(?)" "p.(Gly1032Glufs*52)" "21"
"0000767525" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000767526" "00001847" "90" "3261" "0" "3261" "0" "c.3261A>C" "r.(?)" "p.(Glu1087Asp)" "22"
"0000767527" "00001847" "70" "3272" "0" "3272" "0" "c.3272G>A" "r.(?)" "p.(Gly1091Glu)" "22"
"0000767528" "00001847" "90" "3289" "0" "3289" "0" "c.3289A>T" "r.(?)" "p.(Arg1097*)" "22"
"0000767529" "00001847" "90" "3292" "0" "3292" "0" "c.3292C>T" "r.(?)" "p.(Arg1098Cys)" "22"
"0000767530" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000767531" "00001847" "70" "3323" "0" "3323" "0" "c.3323G>T" "r.(?)" "p.(Arg1108Leu)" "22"
"0000767532" "00001847" "50" "3377" "0" "3377" "0" "c.3377T>C" "r.(?)" "p.(Leu1126Pro)" "23"
"0000767533" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000767534" "00001847" "70" "3482" "0" "3482" "0" "c.3482G>A" "r.(?)" "p.(Arg1161His)" "23"
"0000767535" "00001847" "90" "3529" "0" "3532" "0" "c.3529_3532dup" "r.(?)" "p.(Ser1178Metfs*6)" "24"
"0000767536" "00001847" "10" "3602" "0" "3602" "0" "c.3602T>G" "r.(?)" "p.(Leu1201Arg)" "24"
"0000767537" "00001847" "50" "3758" "0" "3758" "0" "c.3758C>T" "r.(?)" "p.(Thr1253Met)" "25"
"0000767538" "00001847" "90" "3808" "0" "3808" "0" "c.3808G>T" "r.(?)" "p.(Glu1270*)" "25"
"0000767539" "00001847" "70" "3813" "0" "3813" "0" "c.3813G>A" "r.spl?" "p.(Glu1271=)" "25"
"0000767540" "00001847" "70" "3815" "0" "3815" "0" "c.3815T>C" "r.spl?" "p.(Ile1272Thr)" "26"
"0000767541" "00001847" "90" "3871" "0" "3871" "0" "c.3871C>T" "r.(?)" "p.(Gln1291*)" "27"
"0000767542" "00001847" "50" "3900" "0" "3900" "0" "c.3900A>G" "r.(?)" "p.(Arg1300=)" "27"
"0000767543" "00001847" "50" "4140" "0" "4140" "0" "c.4140G>A" "r.(?)" "p.(=)" "28"
"0000767544" "00001847" "90" "4195" "0" "4195" "0" "c.4195G>T" "r.(?)" "p.(Glu1399*)" "28"
"0000767545" "00001847" "50" "4195" "0" "4195" "0" "c.4195G>A" "r.(?)" "p.(Glu1399Lys)" "28"
"0000767546" "00001847" "30" "4203" "0" "4203" "0" "c.4203C>A" "r.(?)" "p.(=)" "28"
"0000767547" "00001847" "70" "4222" "0" "4222" "0" "c.4222T>C" "r.(?)" "p.(Trp1408Arg)" "28"
"0000767548" "00001847" "90" "4234" "0" "4234" "0" "c.4234C>T" "r.(?)" "p.(Gln1412*)" "28"
"0000767549" "00001847" "70" "4253" "5" "4253" "5" "c.4253+5G>A" "r.4129_4253del" "p.(Ile1377Hisfs*3)" "28i"
"0000767550" "00001847" "90" "4254" "-1" "4254" "-1" "c.4254-1G>C" "r.spl" "p.?" "28i"
"0000767551" "00001847" "50" "4297" "0" "4297" "0" "c.4297G>A" "r.(?)" "p.(Val1433Ile)" "29"
"0000767552" "00001847" "50" "4328" "0" "4328" "0" "c.4328G>A" "r.(?)" "p.(Arg1443His)" "29"
"0000767553" "00001847" "70" "4347" "0" "4347" "0" "c.4347G>T" "r.(?)" "p.(Trp1449Cys)" "29"
"0000767554" "00001847" "90" "4352" "1" "4352" "1" "c.4352+1G>A" "r.spl" "p.?" "29i"
"0000767555" "00001847" "90" "4354" "0" "4354" "0" "c.4354G>T" "r.(?)" "p.(Glu1452*)" "30"
"0000767556" "00001847" "70" "4457" "0" "4457" "0" "c.4457C>T" "r.(?)" "p.(Pro1486Leu)" "30"
"0000767557" "00001847" "70" "4463" "0" "4463" "0" "c.4463G>A" "r.(?)" "p.(Cys1488Tyr)" "30"
"0000767558" "00001847" "70" "4462" "0" "4462" "0" "c.4462T>C" "r.(?)" "p.(Cys1488Arg)" "30"
"0000767559" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000767560" "00001847" "50" "4519" "0" "4519" "0" "c.4519G>A" "r.(?)" "p.(Gly1507Arg)" "30"
"0000767561" "00001847" "30" "4539" "1770" "4539" "1770" "c.4539+1770C>A" "r.(?)" "p.(?)" "30i"
"0000767562" "00001847" "50" "4539" "2028" "4539" "2028" "c.4539+2028C>T" "r.[=,4539_4540ins[4539+1891_4539+2027;u;4539+2029_4540-2162]]" "p.[=,Arg1514Leufs*36]" "30i"
"0000767563" "00001847" "50" "4540" "-2169" "4540" "-2169" "c.4540-2169A>G" "r.(?)" "p.(?)" "30i"
"0000767564" "00001847" "50" "4540" "-2077" "4540" "-2077" "c.4540-2077C>T" "r.(?)" "p.(?)" "30i"
"0000767565" "00001847" "50" "4540" "-2036" "4540" "-2036" "c.4540-2036C>A" "r.(?)" "p.(?)" "30i"
"0000767566" "00001847" "70" "4594" "0" "4594" "0" "c.4594G>A" "r.(?)" "p.(Asp1532Asn)" "31"
"0000767567" "00001847" "70" "4610" "0" "4610" "0" "c.4610C>T" "r.(?)" "p.(Thr1537Met)" "31"
"0000767568" "00001847" "30" "4611" "0" "4611" "0" "c.4611G>A" "r.(?)" "p.(Thr1537=)" "31"
"0000767569" "00001847" "70" "4635" "0" "4635" "0" "c.4635C>T" "r.spl?" "p.(Ser1545=)" "32"
"0000767570" "00001847" "90" "4640" "0" "4640" "0" "c.4640del" "r.(?)" "p.(Lys1547Argfs*34)" "32"
"0000767571" "00001847" "50" "4685" "0" "4685" "0" "c.4685T>C" "r.(?)" "p.(Ile1562Thr)" "33"
"0000767572" "00001847" "50" "4739" "0" "4739" "0" "c.4739T>C" "r.(?)" "p.(Leu1580Ser)" "33"
"0000767573" "00001847" "50" "4771" "0" "4771" "0" "c.4771G>A" "r.(?)" "p.(Gly1591Arg)" "33"
"0000767574" "00001847" "70" "4773" "3" "4773" "3" "c.4773+3A>G" "r.[4668_4773del,=]" "p.[Tyr1557Alafs*18,=]" "33i"
"0000767575" "00001847" "70" "4793" "0" "4793" "0" "c.4793C>A" "r.(?)" "p.(Ala1598Asp)" "34"
"0000767576" "00001847" "70" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" "35"
"0000767577" "00001847" "70" "4919" "0" "4919" "0" "c.4919G>A" "r.(?)" "p.(Arg1640Gln)" "35"
"0000767578" "00001847" "70" "4979" "0" "4979" "0" "c.4979C>T" "r.(?)" "p.(Pro1660Leu)" "35"
"0000767579" "00001847" "90" "5018" "2" "5018" "2" "c.5018+2T>C" "r.spl" "p.?" "35i"
"0000767580" "00001847" "50" "5065" "0" "5065" "0" "c.5065T>C" "r.(?)" "p.(Ser1689Pro)" "36"
"0000767581" "00001847" "70" "5087" "0" "5087" "0" "c.5087G>A" "r.(?)" "p.(Ser1696Asn)" "36"
"0000767582" "00001847" "70" "5114" "0" "5114" "0" "c.5114G>T" "r.(?)" "p.(Arg1705Leu)" "36"
"0000767583" "00001847" "70" "5137" "0" "5137" "0" "c.5137C>A" "r.(?)" "p.(Gln1713Lys)" "36"
"0000767584" "00001847" "70" "5153" "0" "5153" "0" "c.5153T>G" "r.(?)" "p.(Val1718Gly)" "36"
"0000767585" "00001847" "90" "5189" "0" "5189" "0" "c.5189G>A" "r.(?)" "p.(Trp1730*)" "36"
"0000767586" "00001847" "90" "5196" "1" "5196" "1" "c.5196+1G>A" "r.spl" "p.?" "36i"
"0000767587" "00001847" "90" "5196" "2" "5196" "2" "c.5196+2T>C" "r.spl" "p.?" "36i"
"0000767588" "00001847" "50" "5196" "899" "5196" "899" "c.5196+899C>T" "r.=" "p.(=)" "36i"
"0000767589" "00001847" "70" "5196" "1013" "5196" "1013" "c.5196+1013A>G" "r.5196_5197ins5196+880_5196+1008" "p.(Met1733Valfs*2)" "36i"
"0000767590" "00001847" "50" "5196" "1015" "5196" "1015" "c.5196+1015A>G" "r.=" "p.(=)" "36i"
"0000767591" "00001847" "90" "5196" "1056" "5196" "1056" "c.5196+1056A>G" "r.5196_5197ins5196+880_5196+1056" "p.(Met1733Valfs*2)" "36i"
"0000767592" "00001847" "50" "5196" "1078" "5196" "1078" "c.5196+1078del" "r.(?)" "p.(?)" "36i"
"0000767593" "00001847" "70" "5288" "0" "5288" "0" "c.5288T>C" "r.(?)" "p.(Leu1763Pro)" "37"
"0000767594" "00001847" "90" "5312" "1" "5312" "1" "c.5312+1G>A" "r.spl" "p.?" "37i"
"0000767595" "00001847" "70" "5318" "0" "5318" "0" "c.5318C>T" "r.(?)" "p.(Ala1773Val)" "38"
"0000767596" "00001847" "70" "5363" "0" "5363" "0" "c.5363C>T" "r.(?)" "p.(Pro1788Leu)" "38"
"0000767597" "00001847" "70" "5381" "0" "5381" "0" "c.5381C>A" "r.(?)" "p.(Ala1794Asp)" "38"
"0000767598" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000767599" "00001847" "50" "5478" "0" "5478" "0" "c.5478C>T" "r.(?)" "p.(Asn1826=)" "39"
"0000767600" "00001847" "70" "5512" "0" "5512" "0" "c.5512C>G" "r.(?)" "p.(His1838Asp)" "39"
"0000767601" "00001847" "70" "5512" "0" "5512" "0" "c.5512C>A" "r.(?)" "p.(His1838Asn)" "39"
"0000767602" "00001847" "70" "5513" "0" "5513" "0" "c.5513A>G" "r.(?)" "p.(His1838Arg)" "39"
"0000767603" "00001847" "70" "5549" "0" "5549" "0" "c.5549T>C" "r.(?)" "p.(Leu1850Pro)" "39"
"0000767604" "00001847" "70" "5558" "0" "5558" "0" "c.5558C>A" "r.(?)" "p.(Ala1853Asp)" "39"
"0000767605" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000767606" "00001847" "70" "5606" "0" "5606" "0" "c.5606C>T" "r.(?)" "p.(Pro1869Leu)" "40"
"0000767607" "00001847" "70" "5656" "0" "5656" "0" "c.5656G>A" "r.(?)" "p.(Gly1886Arg)" "40"
"0000767608" "00001847" "50" "5682" "0" "5682" "0" "c.5682G>C" "r.(?)" "p.(=)" "40"
"0000767609" "00001847" "50" "5693" "0" "5693" "0" "c.5693G>A" "r.(?)" "p.(Arg1898His)" "40"
"0000767610" "00001847" "70" "5714" "4" "5714" "4" "c.5714+4C>T" "r.spl?" "p.(?)" "40i"
"0000767611" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000767612" "00001847" "50" "5814" "0" "5814" "0" "c.5814A>G" "r.(?)" "p.(=)" "41"
"0000767613" "00001847" "70" "5828" "0" "5828" "0" "c.5828T>C" "r.(?)" "p.(Leu1943Pro)" "41"
"0000767614" "00001847" "50" "5836" "-11" "5836" "-11" "c.5836-11G>A" "r.(?)" "p.(?)" "41"
"0000767615" "00001847" "10" "5843" "0" "5843" "0" "c.5843C>T" "r.(?)" "p.(Pro1948Leu)" "42"
"0000767616" "00001847" "50" "5844" "0" "5844" "0" "c.5844A>G" "r.(?)" "p.(Pro1948=)" "42"
"0000767617" "00001847" "70" "5881" "0" "5881" "0" "c.5881G>A" "r.(?)" "p.(Gly1961Arg)" "42"
"0000767618" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000767619" "00001847" "50" "5908" "0" "5908" "0" "c.5908C>T" "r.(?)" "p.(Leu1970Phe)" "43"
"0000767620" "00001847" "70" "5909" "0" "5909" "0" "c.5909T>C" "r.(?)" "p.(Leu1970Pro)" "43"
"0000767621" "00001847" "90" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973*)" "43"
"0000767622" "00001847" "70" "5936" "0" "5936" "0" "c.5936C>T" "r.(?)" "p.(Thr1979Ile)" "43"
"0000767623" "00001847" "70" "5942" "0" "5942" "0" "c.5942C>G" "r.(?)" "p.(Thr1981Arg)" "43"
"0000767624" "00001847" "50" "5973" "0" "5973" "0" "c.5973G>C" "r.(?)" "p.(Val1991=)" "43"
"0000767625" "00001847" "70" "6077" "0" "6077" "0" "c.6077T>C" "r.(?)" "p.(Leu2026Pro)" "44"
"0000767626" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000767627" "00001847" "70" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" "44"
"0000767628" "00001847" "70" "6112" "0" "6112" "0" "c.6112C>T" "r.(?)" "p.(Arg2038Trp)" "44"
"0000767629" "00001847" "50" "6148" "0" "6148" "0" "c.6148G>C" "r.=" "p.(Val2050Leu)" "45"
"0000767630" "00001847" "70" "6229" "0" "6229" "0" "c.6229C>T" "r.(?)" "p.(Arg2077Trp)" "45"
"0000767631" "00001847" "70" "6230" "0" "6230" "0" "c.6230G>A" "r.(?)" "p.(Arg2077Gln)" "45"
"0000767632" "00001847" "50" "6249" "0" "6249" "0" "c.6249C>T" "r.(?)" "p.(Ile2083=)" "45"
"0000767633" "00001847" "50" "6255" "0" "6255" "0" "c.6255C>T" "r.(?)" "p.(Leu2085=)" "45"
"0000767634" "00001847" "90" "6283" "-3" "6283" "-2" "c.6283-3_6283-2delinsAG" "r.(?)" "p.(?)" "45i"
"0000767635" "00001847" "10" "6285" "0" "6285" "0" "c.6285T>C" "r.(?)" "p.(=)" "46"
"0000767636" "00001847" "90" "6316" "0" "6316" "0" "c.6316C>T" "r.(?)" "p.(Arg2106Cys)" "46"
"0000767637" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000767638" "00001847" "70" "6326" "0" "6326" "0" "c.6326T>C" "r.(?)" "p.(Leu2109Pro)" "46"
"0000767639" "00001847" "90" "6386" "2" "6386" "2" "c.6386+2C>G" "r.(?)" "p.(?)" "46i"
"0000767640" "00001847" "70" "6449" "0" "6449" "0" "c.6449G>A" "r.(?)" "p.(Cys2150Tyr)" "47"
"0000767641" "00001847" "50" "6515" "0" "6515" "0" "c.6515A>G" "r.(?)" "p.(Lys2172Arg)" "48"
"0000767642" "00001847" "10" "6529" "0" "6529" "0" "c.6529G>A" "r.(?)" "p.(Asp2177Asn)" "48"
"0000767643" "00001847" "90" "6609" "0" "6609" "0" "c.6609C>A" "r.(?)" "p.(Tyr2203*)" "48"
"0000767644" "00001847" "70" "6647" "0" "6647" "0" "c.6647C>T" "r.(?)" "p.(Ala2216Val)" "48"
"0000767645" "00001847" "90" "6658" "0" "6658" "0" "c.6658C>T" "r.(?)" "p.(Gln2220*)" "48"
"0000767646" "00001847" "70" "6713" "0" "6713" "0" "c.6713A>G" "r.(?)" "p.(Gln2238Arg)" "48"
"0000767647" "00001847" "30" "6730" "-3" "6730" "-3" "c.6730-3T>C" "r.(?)" "p.(?)" "48i"
"0000767648" "00001847" "70" "6732" "0" "6732" "0" "c.6732G>A" "r.spl" "p.(Val2244=)" "49"
"0000767649" "00001847" "10" "6764" "0" "6764" "0" "c.6764G>T" "r.(?)" "p.(Ser2255Ile)" "49"
"0000767650" "00001847" "90" "5018" "2" "5018" "2" "c.5018+2T>C" "r.spl" "p.?" "35i"
"0000767651" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000767652" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000767653" "00001847" "70" "5318" "0" "5318" "0" "c.5318C>T" "r.(?)" "p.(Ala1773Val)" "38"
"0000767654" "00001847" "70" "5318" "0" "5318" "0" "c.5318C>T" "r.(?)" "p.(Ala1773Val)" "38"
"0000767655" "00001847" "70" "5318" "0" "5318" "0" "c.5318C>T" "r.(?)" "p.(Ala1773Val)" "38"
"0000767656" "00001847" "90" "93" "0" "93" "0" "c.93G>A" "r.(?)" "p.(Trp31*)" "2"
"0000767657" "00001847" "70" "52" "0" "52" "0" "c.52C>T" "r.(?)" "p.(Arg18Trp)" "1"
"0000767658" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000767659" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000767660" "00001847" "50" "5908" "0" "5908" "0" "c.5908C>T" "r.(?)" "p.(Leu1970Phe)" "43"
"0000767661" "00001847" "50" "6148" "0" "6148" "0" "c.6148G>C" "r.=" "p.(Val2050Leu)" "45"
"0000767662" "00001847" "50" "6148" "0" "6148" "0" "c.6148G>C" "r.=" "p.(Val2050Leu)" "45"
"0000767663" "00001847" "50" "6148" "0" "6148" "0" "c.6148G>C" "r.=" "p.(Val2050Leu)" "45"
"0000767664" "00001847" "90" "564" "0" "564" "0" "c.564del" "r.(?)" "p.(Glu189Serfs*12)" "5"
"0000767665" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000767666" "00001847" "90" "1995" "0" "1995" "0" "c.1995C>A" "r.(?)" "p.(Tyr655*)" "14"
"0000767667" "00001847" "90" "2829" "0" "2829" "0" "c.2829del" "r.(?)" "p.(Pro944Glnfs*6)" "19"
"0000767668" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000767669" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000767670" "00001847" "50" "4771" "0" "4771" "0" "c.4771G>A" "r.(?)" "p.(Gly1591Arg)" "33"
"0000767671" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000767672" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000767673" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000767674" "00001847" "90" "2041" "0" "2041" "0" "c.2041C>T" "r.(?)" "p.(Arg681*)" "14"
"0000767675" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000767676" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000767677" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000767678" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000767679" "00001847" "70" "1715" "0" "1715" "0" "c.1715G>A" "r.(?)" "p.(Arg572Gln)" "12"
"0000767680" "00001847" "90" "4537" "0" "4537" "0" "c.4537dup" "r.(?)" "p.(Gln1513Profs*42)" "30"
"0000767681" "00001847" "70" "71" "0" "71" "0" "c.71G>A" "r.(?)" "p.(Arg24Cys)" "2"
"0000767682" "00001847" "90" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973*)" "43"
"0000767683" "00001847" "70" "5318" "0" "5318" "0" "c.5318C>T" "r.(?)" "p.(Ala1773Val)" "38"
"0000767684" "00001847" "90" "2041" "0" "2041" "0" "c.2041C>T" "r.(?)" "p.(Arg681*)" "14"
"0000767685" "00001847" "50" "4519" "0" "4519" "0" "c.4519G>A" "r.(?)" "p.(Gly1507Arg)" "30"
"0000767686" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.[(768g>u;768_769ins768+1_768+35)]" "p.(Leu257Valfs*17)" "6"
"0000767687" "00001847" "70" "71" "0" "71" "0" "c.71G>A" "r.(?)" "p.(Arg24Cys)" "2"
"0000767688" "00001847" "90" "1760" "2" "1760" "2" "c.1760+2T>G" "r.spl" "p.?" "12i"
"0000767689" "00001847" "90" "1619" "0" "1622" "0" "c.1619_1622del" "r.(?)" "p.(Ser540Tyrfs*27)" "12"
"0000767690" "00001847" "70" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" "31"
"0000767691" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000767692" "00001847" "70" "4594" "0" "4594" "0" "c.4594G>A" "r.(?)" "p.(Asp1532Asn)" "31"
"0000767693" "00001847" "90" "2966" "0" "2966" "0" "c.2966T>C" "r.(?)" "p.(Val989Ala)" "20"
"0000767694" "00001847" "50" "1532" "0" "1532" "0" "c.1532G>A" "r.(?)" "p.(Arg511His)" "11"
"0000767695" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000767696" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000767697" "00001847" "70" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" "31"
"0000767698" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000767699" "00001847" "70" "91" "0" "91" "0" "c.91T>C" "r.(?)" "p.(Trp31Arg)" "2"
"0000767700" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000767701" "00001847" "90" "885" "0" "885" "0" "c.885del" "r.(?)" "p.(Leu296Cysfs*4)" "8"
"0000767702" "00001847" "90" "66" "0" "66" "0" "c.66G>A" "r.(?)" "p.(=)" "1"
"0000767703" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000767704" "00001847" "70" "6191" "0" "6191" "0" "c.6191C>T" "r.(?)" "p.(Ala2064Val)" "45"
"0000767705" "00001847" "70" "859" "-9" "859" "-9" "c.859-9T>C" "r.[=,859_1356del]" "p.[=,Phe287_Arg452del]" "7i"
"0000767706" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000767707" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000767708" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000767709" "00001847" "70" "859" "-9" "859" "-9" "c.859-9T>C" "r.[=,859_1356del]" "p.[=,Phe287_Arg452del]" "7i"
"0000767710" "00001847" "70" "859" "-9" "859" "-9" "c.859-9T>C" "r.[=,859_1356del]" "p.[=,Phe287_Arg452del]" "7i"
"0000767711" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000767712" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000767713" "00001847" "50" "2023" "0" "2023" "0" "c.2023G>A" "r.(?)" "p.(Val675Ile)" "14"
"0000767714" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000767715" "00001847" "90" "571" "-2" "575" "0" "c.571-2_575del" "r.(?)" "p.(?)" "6"
"0000767716" "00001847" "70" "6694" "0" "6694" "0" "c.6694G>A" "r.(?)" "p.(Glu2232Lys)" "48"
"0000767717" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000767718" "00001847" "70" "5243" "0" "5243" "0" "c.5243G>A" "r.(?)" "p.(Gly1748Glu)" "37"
"0000767719" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000767720" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000767721" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000767722" "00001847" "70" "1531" "0" "1531" "0" "c.1531C>T" "r.(?)" "p.(Arg511Cys)" "11"
"0000767723" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000767724" "00001847" "70" "179" "0" "179" "0" "c.179C>T" "r.(?)" "p.(Ala60Val)" "3"
"0000767725" "00001847" "70" "91" "0" "91" "0" "c.91T>C" "r.(?)" "p.(Trp31Arg)" "2"
"0000767726" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000767727" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000767728" "00001847" "90" "1995" "0" "1995" "0" "c.1995C>A" "r.(?)" "p.(Tyr655*)" "14"
"0000767729" "00001847" "90" "1995" "0" "1995" "0" "c.1995C>A" "r.(?)" "p.(Tyr655*)" "14"
"0000767730" "00001847" "70" "1253" "0" "1253" "0" "c.1253T>C" "r.(?)" "p.(Phe418Ser)" "10"
"0000767731" "00001847" "70" "4588" "0" "4588" "0" "c.4588A>T" "r.(?)" "p.(Ile1530Phe)" "31"
"0000767732" "00001847" "70" "2438" "0" "2438" "0" "c.2438A>C" "r.(?)" "p.(Glu813Ala)" "16"
"0000767733" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000767734" "00001847" "90" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973*)" "43"
"0000767735" "00001847" "90" "6658" "0" "6658" "0" "c.6658C>T" "r.(?)" "p.(Gln2220*)" "48"
"0000767736" "00001847" "90" "2063" "0" "2063" "0" "c.2063dup" "r.(?)" "p.(Asn688Lysfs*78)" "14"
"0000767737" "00001847" "90" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973*)" "43"
"0000767738" "00001847" "50" "4297" "0" "4297" "0" "c.4297G>A" "r.(?)" "p.(Val1433Ile)" "29"
"0000767739" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000767740" "00001847" "50" "6148" "0" "6148" "0" "c.6148G>C" "r.=" "p.(Val2050Leu)" "45"
"0000767741" "00001847" "50" "2701" "0" "2701" "0" "c.2701A>G" "r.(?)" "p.(Thr901Ala)" "18"
"0000767742" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000767743" "00001847" "90" "3191" "-1" "3191" "-1" "c.3191-1G>T" "r.spl" "p.?" "21i"
"0000767744" "00001847" "90" "3081" "0" "3081" "0" "c.3081T>G" "r.(?)" "p.(Tyr1027*)" "21"
"0000767745" "00001847" "90" "6286" "0" "6286" "0" "c.6286G>A" "r.(?)" "p.(Glu2096Lys)" "46"
"0000767746" "00001847" "70" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" "31"
"0000767747" "00001847" "90" "93" "0" "93" "0" "c.93G>A" "r.(?)" "p.(Trp31*)" "2"
"0000767748" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000767749" "00001847" "70" "6729" "5" "6729" "19" "c.6729+5_6729+19del" "r.6480_6729del" "p.(Phe2161Cysfs*3)" "48i"
"0000767750" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000767751" "00001847" "70" "6729" "5" "6729" "19" "c.6729+5_6729+19del" "r.6480_6729del" "p.(Phe2161Cysfs*3)" "48i"
"0000767752" "00001847" "70" "2912" "0" "2912" "0" "c.2912C>A" "r.(?)" "p.(Thr971Asn)" "19"
"0000767753" "00001847" "70" "4462" "0" "4462" "0" "c.4462T>C" "r.(?)" "p.(Cys1488Arg)" "30"
"0000767754" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000767755" "00001847" "90" "6479" "1" "6479" "1" "c.6479+1G>A" "r.spl" "p.?" "47i"
"0000767756" "00001847" "90" "6479" "1" "6479" "1" "c.6479+1G>A" "r.spl" "p.?" "47i"
"0000767757" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000767758" "00001847" "70" "4253" "4" "4253" "4" "c.4253+4C>T" "r.4129_4253del" "p.(Ile1377Hisfs*3)" "28i"
"0000767759" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000767760" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.[(768g>u;768_769ins768+1_768+35)]" "p.(Leu257Valfs*17)" "6"
"0000767761" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000767762" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.[(768g>u;768_769ins768+1_768+35)]" "p.(Leu257Valfs*17)" "6"
"0000767763" "00001847" "90" "2919" "-1" "3328" "1" "c.(2918+1_2919-1)_(3328+1_3329-1)del" "r.(?)" "p.(Ser974Glnfs*64)" "19i_22i"
"0000767764" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000767765" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000767766" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000767767" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.[(768g>u;768_769ins768+1_768+35)]" "p.(Leu257Valfs*17)" "6"
"0000767768" "00001847" "90" "2919" "-1" "3328" "1" "c.(2918+1_2919-1)_(3328+1_3329-1)del" "r.(?)" "p.(Ser974Glnfs*64)" "19i_22i"
"0000767769" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000767770" "00001847" "70" "286" "0" "286" "0" "c.286A>G" "r.(?)" "p.(Asn96Asp)" "3"
"0000767771" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000767772" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000767773" "00001847" "50" "2791" "0" "2791" "0" "c.2791G>A" "r.(?)" "p.(Val931Met)" "19"
"0000767774" "00001847" "50" "2791" "0" "2791" "0" "c.2791G>A" "r.(?)" "p.(Val931Met)" "19"
"0000767775" "00001847" "70" "5417" "0" "5417" "0" "c.5417G>A" "r.(?)" "p.(Ser1806Asn)" "38"
"0000767776" "00001847" "70" "5417" "0" "5417" "0" "c.5417G>A" "r.(?)" "p.(Ser1806Asn)" "38"
"0000767777" "00001847" "90" "4667" "1" "4667" "1" "c.4667+1G>A" "r.spl" "p.?" "32i"
"0000767778" "00001847" "70" "4793" "0" "4793" "0" "c.4793C>A" "r.(?)" "p.(Ala1598Asp)" "34"
"0000767779" "00001847" "70" "2461" "0" "2461" "0" "c.2461T>A" "r.(?)" "p.(Trp821Arg)" "16"
"0000767780" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000767781" "00001847" "50" "514" "0" "514" "0" "c.514G>A" "r.(?)" "p.(Gly172Ser)" "5"
"0000767782" "00001847" "90" "982" "0" "982" "0" "c.982G>T" "r.(?)" "p.(Glu328*)" "8"
"0000767783" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000767784" "00001847" "70" "3233" "0" "3233" "0" "c.3233G>A" "r.(?)" "p.(Gly1078Glu)" "22"
"0000767785" "00001847" "90" "2345" "0" "2345" "0" "c.2345G>A" "r.(?)" "p.(Trp782*)" "15"
"0000767786" "00001847" "70" "203" "0" "203" "0" "c.203C>T" "r.(?)" "p.(Pro68Leu)" "3"
"0000767787" "00001847" "50" "4297" "0" "4297" "0" "c.4297G>A" "r.(?)" "p.(Val1433Ile)" "29"
"0000767788" "00001847" "90" "3531" "0" "3531" "0" "c.3531C>A" "r.(?)" "p.(Cys1177*)" "24"
"0000767789" "00001847" "90" "247" "0" "250" "0" "c.247_250dup" "r.(?)" "p.(Ser84Thrfs*16)" "3"
"0000767790" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000767791" "00001847" "90" "4437" "0" "4437" "0" "c.4437G>A" "r.(?)" "p.(Trp1479*)" "30"
"0000767792" "00001847" "90" "4437" "0" "4437" "0" "c.4437G>A" "r.(?)" "p.(Trp1479*)" "30"
"0000767793" "00001847" "70" "2461" "0" "2461" "0" "c.2461T>A" "r.(?)" "p.(Trp821Arg)" "16"
"0000767794" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000767795" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.[(768g>u;768_769ins768+1_768+35)]" "p.(Leu257Valfs*17)" "6"
"0000767796" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000767797" "00001847" "90" "3970" "0" "3970" "0" "c.3970del" "r.(?)" "p.(Ala1324Argfs*65)" "27"
"0000767798" "00001847" "70" "4383" "0" "4383" "0" "c.4383G>C" "r.(?)" "p.(Trp1461Cys)" "30"
"0000767799" "00001847" "70" "2461" "0" "2461" "0" "c.2461T>A" "r.(?)" "p.(Trp821Arg)" "16"
"0000767800" "00001847" "90" "2933" "0" "2933" "0" "c.2933G>A" "r.(?)" "p.(Gly978Asp)" "20"
"0000767801" "00001847" "70" "2519" "0" "2519" "0" "c.2519T>G" "r.(?)" "p.(Met840Arg)" "16"
"0000767802" "00001847" "50" "1245" "0" "1245" "0" "c.1245C>A" "r.(?)" "p.(Asn415Lys)" "10"
"0000767803" "00001847" "70" "343" "0" "380" "0" "c.343_380delinsGGACA" "r.(?)" "p.(Asn115_Thr127delinsGlyGln)" "4"
"0000767804" "00001847" "90" "571" "-2" "571" "-2" "c.571-2A>T" "r.spl" "p.?" "5i"
"0000767805" "00001847" "90" "5018" "2" "5018" "2" "c.5018+2T>C" "r.spl" "p.?" "35i"
"0000767806" "00001847" "90" "6537" "0" "6537" "0" "c.6537del" "r.(?)" "p.(Pro2180Leufs*3)" "48"
"0000767807" "00001847" "90" "3531" "0" "3531" "0" "c.3531C>A" "r.(?)" "p.(Cys1177*)" "24"
"0000767808" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000767809" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000767810" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000767811" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000767812" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000767813" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000767814" "00001847" "90" "318" "0" "318" "0" "c.318T>G" "r.(?)" "p.(Tyr106*)" "4"
"0000767815" "00001847" "70" "2552" "0" "2552" "0" "c.2552G>A" "r.(?)" "p.(Gly851Asp)" "16"
"0000767816" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000767817" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000767818" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000767819" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000767820" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000767821" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000767822" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000767823" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000767824" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000767825" "00001847" "70" "5572" "0" "5572" "0" "c.5572T>A" "r.(?)" "p.(Tyr1858Asn)" "39"
"0000767826" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000767827" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000767828" "00001847" "70" "2552" "0" "2552" "0" "c.2552G>A" "r.(?)" "p.(Gly851Asp)" "16"
"0000767829" "00001847" "70" "1253" "0" "1253" "0" "c.1253T>C" "r.(?)" "p.(Phe418Ser)" "10"
"0000767830" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000767831" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000767832" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000767833" "00001847" "90" "4537" "0" "4537" "0" "c.4537del" "r.(?)" "p.(Gln1513Argfs*13)" "30"
"0000767834" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000767835" "00001847" "70" "1253" "0" "1253" "0" "c.1253T>C" "r.(?)" "p.(Phe418Ser)" "10"
"0000767836" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000767837" "00001847" "90" "2564" "0" "2564" "0" "c.2564G>A" "r.(?)" "p.(Trp855*)" "16"
"0000767838" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000767839" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000767840" "00001847" "90" "2041" "0" "2041" "0" "c.2041C>T" "r.(?)" "p.(Arg681*)" "14"
"0000767841" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000767842" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000767843" "00001847" "90" "1957" "0" "1957" "0" "c.1957C>T" "r.(?)" "p.(Arg653Cys)" "14"
"0000767844" "00001847" "90" "2966" "0" "2966" "0" "c.2966T>C" "r.(?)" "p.(Val989Ala)" "20"
"0000767845" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000767846" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000767847" "00001847" "90" "2919" "-2" "2919" "-2" "c.2919-2A>G" "r.spl" "p.?" "19i"
"0000767848" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000767849" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000767850" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000767851" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000767852" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000767853" "00001847" "50" "3758" "0" "3758" "0" "c.3758C>T" "r.(?)" "p.(Thr1253Met)" "25"
"0000767854" "00001847" "90" "571" "-1" "571" "-1" "c.571-1G>T" "r.spl" "p.?" "5i"
"0000767855" "00001847" "70" "161" "0" "161" "0" "c.161G>A" "r.[161_302del,161g>a]" "p.[Cys54Serfs*14,Cys54Tyr]" "3"
"0000767856" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000767857" "00001847" "90" "2971" "0" "2971" "0" "c.2971G>C" "r.(?)" "p.(Gly991Arg)" "20"
"0000767858" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000767859" "00001847" "90" "2966" "0" "2966" "0" "c.2966T>C" "r.(?)" "p.(Val989Ala)" "20"
"0000767860" "00001847" "70" "3386" "0" "3386" "0" "c.3386G>A" "r.(?)" "p.(Arg1129His)" "23"
"0000767861" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.[(768g>u;768_769ins768+1_768+35)]" "p.(Leu257Valfs*17)" "6"
"0000767862" "00001847" "90" "2564" "0" "2564" "0" "c.2564G>A" "r.(?)" "p.(Trp855*)" "16"
"0000767863" "00001847" "70" "1022" "0" "1022" "0" "c.1022A>G" "r.(?)" "p.(Glu341Gly)" "8"
"0000767864" "00001847" "70" "161" "0" "161" "0" "c.161G>A" "r.[161_302del,161g>a]" "p.[Cys54Serfs*14,Cys54Tyr]" "3"
"0000767865" "00001847" "70" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" "31"
"0000767866" "00001847" "70" "5113" "0" "5113" "0" "c.5113C>T" "r.(?)" "p.(Arg1705Trp)" "36"
"0000767867" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000767868" "00001847" "70" "161" "0" "161" "0" "c.161G>A" "r.[161_302del,161g>a]" "p.[Cys54Serfs*14,Cys54Tyr]" "3"
"0000767869" "00001847" "90" "5018" "2" "5018" "2" "c.5018+2T>C" "r.spl" "p.?" "35i"
"0000767870" "00001847" "70" "1726" "0" "1726" "0" "c.1726G>C" "r.(?)" "p.(Asp576His)" "12"
"0000767871" "00001847" "70" "3413" "0" "3413" "0" "c.3413T>A" "r.(?)" "p.(Leu1138His)" "23"
"0000767872" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000767873" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000767874" "00001847" "70" "161" "0" "161" "0" "c.161G>A" "r.[161_302del,161g>a]" "p.[Cys54Serfs*14,Cys54Tyr]" "3"
"0000767875" "00001847" "70" "161" "0" "161" "0" "c.161G>A" "r.[161_302del,161g>a]" "p.[Cys54Serfs*14,Cys54Tyr]" "3"
"0000767876" "00001847" "90" "666" "0" "678" "0" "c.666_678del" "r.(?)" "p.(Lys223Metfs*14)" "6"
"0000767877" "00001847" "90" "666" "0" "678" "0" "c.666_678del" "r.(?)" "p.(Lys223Metfs*14)" "6"
"0000767878" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000767879" "00001847" "90" "2971" "0" "2971" "0" "c.2971G>C" "r.(?)" "p.(Gly991Arg)" "20"
"0000767880" "00001847" "70" "52" "0" "52" "0" "c.52C>T" "r.(?)" "p.(Arg18Trp)" "1"
"0000767881" "00001847" "90" "571" "-1" "571" "-1" "c.571-1G>T" "r.spl" "p.?" "5i"
"0000767882" "00001847" "70" "3522" "5" "3522" "5" "c.3522+5del" "r.[=,3329_3522del]" "p.[=,Arg1111Aspfs*7]" "23i"
"0000767883" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000767884" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000767885" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000767886" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000767887" "00001847" "70" "1648" "0" "1648" "0" "c.1648G>A" "r.(?)" "p.(Gly550Arg)" "12"
"0000767888" "00001847" "70" "2092" "0" "2092" "0" "c.2092T>C" "r.(?)" "p.(Cys698Arg)" "14"
"0000767889" "00001847" "70" "2915" "0" "2915" "0" "c.2915C>A" "r.(?)" "p.(Thr972Asn)" "19"
"0000767890" "00001847" "50" "3352" "0" "3352" "0" "c.3352C>T" "r.(?)" "p.(His1118Tyr)" "23"
"0000767891" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000767892" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000767893" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000767894" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000767895" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000767896" "00001847" "90" "108" "0" "108" "0" "c.108del" "r.(?)" "p.(Leu37Trpfs*3)" "2"
"0000767897" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000767898" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000767899" "00001847" "90" "3814" "-2" "3814" "-2" "c.3814-2A>G" "r.spl" "p.?" "25i"
"0000767900" "00001847" "90" "5312" "2" "5312" "2" "c.5312+2T>G" "r.spl" "p.?" "37i"
"0000767901" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000767902" "00001847" "70" "161" "0" "161" "0" "c.161G>A" "r.[161_302del,161g>a]" "p.[Cys54Serfs*14,Cys54Tyr]" "3"
"0000767903" "00001847" "90" "1988" "0" "1988" "0" "c.1988G>A" "r.(?)" "p.(Trp663*)" "14"
"0000767904" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000767905" "00001847" "70" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" "31"
"0000767906" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000767907" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000767908" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000767909" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000767910" "00001847" "70" "859" "-9" "859" "-9" "c.859-9T>C" "r.[=,859_1356del]" "p.[=,Phe287_Arg452del]" "7i"
"0000767911" "00001847" "70" "859" "-9" "859" "-9" "c.859-9T>C" "r.[=,859_1356del]" "p.[=,Phe287_Arg452del]" "7i"
"0000767912" "00001847" "70" "5318" "0" "5318" "0" "c.5318C>T" "r.(?)" "p.(Ala1773Val)" "38"
"0000767913" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000767914" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000767915" "00001847" "70" "194" "0" "194" "0" "c.194G>A" "r.(?)" "p.(Gly65Glu)" "3"
"0000767916" "00001847" "90" "1988" "0" "1988" "0" "c.1988G>A" "r.(?)" "p.(Trp663*)" "14"
"0000767917" "00001847" "90" "247" "0" "250" "0" "c.247_250dup" "r.(?)" "p.(Ser84Thrfs*16)" "3"
"0000767918" "00001847" "70" "4457" "0" "4457" "0" "c.4457C>T" "r.(?)" "p.(Pro1486Leu)" "30"
"0000767919" "00001847" "70" "4793" "0" "4793" "0" "c.4793C>A" "r.(?)" "p.(Ala1598Asp)" "34"
"0000767920" "00001847" "70" "4793" "0" "4793" "0" "c.4793C>A" "r.(?)" "p.(Ala1598Asp)" "34"
"0000767921" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000767922" "00001847" "70" "5380" "0" "5380" "0" "c.5380G>C" "r.(?)" "p.(Ala1794Pro)" "38"
"0000767923" "00001847" "70" "3287" "0" "3287" "0" "c.3287C>T" "r.(?)" "p.(Ser1096Leu)" "22"
"0000767924" "00001847" "70" "2453" "0" "2453" "0" "c.2453G>A" "r.(?)" "p.(Gly818Glu)" "16"
"0000767925" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000767926" "00001847" "50" "2560" "0" "2560" "0" "c.2560G>A" "r.(?)" "p.(Ala854Thr)" "16"
"0000767927" "00001847" "70" "2461" "0" "2461" "0" "c.2461T>A" "r.(?)" "p.(Trp821Arg)" "16"
"0000767928" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000767929" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000767930" "00001847" "90" "247" "0" "250" "0" "c.247_250dup" "r.(?)" "p.(Ser84Thrfs*16)" "3"
"0000767931" "00001847" "70" "52" "0" "52" "0" "c.52C>T" "r.(?)" "p.(Arg18Trp)" "1"
"0000767932" "00001847" "90" "834" "0" "834" "0" "c.834del" "r.(?)" "p.(Asp279Ilefs*21)" "7"
"0000767933" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000767934" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000767935" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000767936" "00001847" "50" "2401" "0" "2401" "0" "c.2401G>A" "r.(?)" "p.(Ala801Thr)" "16"
"0000767937" "00001847" "90" "3988" "0" "3988" "0" "c.3988G>T" "r.(?)" "p.(Glu1330*)" "27"
"0000767938" "00001847" "70" "4854" "0" "4854" "0" "c.4854G>T" "r.(?)" "p.(Trp1618Cys)" "35"
"0000767939" "00001847" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408*)" "9"
"0000767940" "00001847" "70" "3323" "0" "3323" "0" "c.3323G>A" "r.(?)" "p.(Arg1108His)" "22"
"0000767941" "00001847" "70" "71" "0" "71" "0" "c.71G>A" "r.(?)" "p.(Arg24Cys)" "2"
"0000767942" "00001847" "50" "101" "0" "106" "0" "c.101_106del" "r.(?)" "p.(Ser34_Leu35del)" "2"
"0000767943" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000767944" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000767945" "00001847" "50" "3758" "0" "3758" "0" "c.3758C>T" "r.(?)" "p.(Thr1253Met)" "25"
"0000767946" "00001847" "90" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.(Met1Val)" "1"
"0000767947" "00001847" "70" "3608" "0" "3608" "0" "c.3608G>A" "r.[3608g>a,3608_3813del]" "p.[Gly1203Glu,Gly1203Aspfs*10]" "25"
"0000767948" "00001847" "90" "1100" "-1" "1100" "-1" "c.1100-1G>A" "r.spl" "p.?" "8i"
"0000767949" "00001847" "70" "160" "5" "160" "5" "c.160+5G>C" "r.[67_160del,161_302delins161+1_161+14,=]" "p.[Ile23Alafs∗24,His55Asnfs∗63,=]" "2i"
"0000767950" "00001847" "70" "3050" "5" "3050" "5" "c.3050+5G>A" "r.2919_3050del" "p.(Leu973_His1017delinsPhe)" "20i"
"0000767951" "00001847" "70" "3050" "5" "3050" "5" "c.3050+5G>A" "r.2919_3050del" "p.(Leu973_His1017delinsPhe)" "20i"
"0000767952" "00001847" "70" "3050" "5" "3050" "5" "c.3050+5G>A" "r.2919_3050del" "p.(Leu973_His1017delinsPhe)" "20i"
"0000767953" "00001847" "70" "3050" "5" "3050" "5" "c.3050+5G>A" "r.2919_3050del" "p.(Leu973_His1017delinsPhe)" "20i"
"0000767954" "00001847" "90" "4539" "1" "4539" "1" "c.4539+1G>T" "r.spl" "p.?" "30i"
"0000767955" "00001847" "90" "5018" "2" "5018" "2" "c.5018+2T>C" "r.spl" "p.?" "35i"
"0000767956" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000767957" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000767958" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000767959" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000767960" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000767961" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000767962" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000767963" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000767964" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000767965" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000767966" "00001847" "50" "1208" "0" "1208" "0" "c.1208A>T" "r.(?)" "p.(Asp403Val)" "9"
"0000767967" "00001847" "70" "161" "0" "161" "0" "c.161G>A" "r.[161_302del,161g>a]" "p.[Cys54Serfs*14,Cys54Tyr]" "3"
"0000767968" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000767969" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000767970" "00001847" "70" "1819" "0" "1819" "0" "c.1819G>T" "r.(?)" "p.(Gly607Trp)" "13"
"0000767971" "00001847" "50" "1908" "0" "1908" "0" "c.1908G>T" "r.(?)" "p.(Gln636His)" "13"
"0000767972" "00001847" "90" "1957" "0" "1957" "0" "c.1957C>T" "r.(?)" "p.(Arg653Cys)" "14"
"0000767973" "00001847" "90" "1988" "0" "1988" "0" "c.1988G>A" "r.(?)" "p.(Trp663*)" "14"
"0000767974" "00001847" "90" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.(Met1Val)" "1"
"0000767975" "00001847" "70" "2453" "0" "2453" "0" "c.2453G>T" "r.(?)" "p.(Gly818Val)" "16"
"0000767976" "00001847" "70" "286" "0" "286" "0" "c.286A>G" "r.(?)" "p.(Asn96Asp)" "3"
"0000767977" "00001847" "90" "3007" "0" "3007" "0" "c.3007C>T" "r.(?)" "p.(Gln1003*)" "20"
"0000767978" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000767979" "00001847" "70" "3364" "0" "3364" "0" "c.3364G>A" "r.(?)" "p.(Glu1122Lys)" "23"
"0000767980" "00001847" "70" "3385" "0" "3385" "0" "c.3385C>T" "r.(?)" "p.(Arg1129Cys)" "23"
"0000767981" "00001847" "70" "4070" "0" "4070" "0" "c.4070C>T" "r.(?)" "p.(Ala1357Val)" "27"
"0000767982" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000767983" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000767984" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000767985" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000767986" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000767987" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000767988" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000767989" "00001847" "90" "4234" "0" "4234" "0" "c.4234C>T" "r.(?)" "p.(Gln1412*)" "28"
"0000767990" "00001847" "90" "4234" "0" "4234" "0" "c.4234C>T" "r.(?)" "p.(Gln1412*)" "28"
"0000767991" "00001847" "70" "4462" "0" "4462" "0" "c.4462T>C" "r.(?)" "p.(Cys1488Arg)" "30"
"0000767992" "00001847" "90" "454" "0" "454" "0" "c.454C>T" "r.(?)" "p.(Arg152*)" "5"
"0000767993" "00001847" "90" "45" "0" "45" "0" "c.45G>A" "r.(?)" "p.(Trp15*)" "1"
"0000767994" "00001847" "70" "5087" "0" "5087" "0" "c.5087G>A" "r.(?)" "p.(Ser1696Asn)" "36"
"0000767995" "00001847" "70" "5114" "0" "5114" "0" "c.5114G>T" "r.(?)" "p.(Arg1705Leu)" "36"
"0000767996" "00001847" "90" "5316" "0" "5316" "0" "c.5316G>A" "r.(?)" "p.(Trp1772*)" "38"
"0000767997" "00001847" "70" "5318" "0" "5318" "0" "c.5318C>T" "r.(?)" "p.(Ala1773Val)" "38"
"0000767998" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000767999" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000768000" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000768001" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000768002" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000768003" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000768004" "00001847" "70" "2194" "0" "2202" "0" "c.2194_2202del" "r.(?)" "p.(Ile732_Phe734del)" "15"
"0000768005" "00001847" "90" "4537" "0" "4537" "0" "c.4537dup" "r.(?)" "p.(Gln1513Profs*42)" "30"
"0000768006" "00001847" "90" "5196" "1" "5196" "1" "c.5196+1G>A" "r.spl" "p.?" "36i"
"0000768007" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000768008" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000768009" "00001847" "70" "3407" "0" "3407" "0" "c.3407G>T" "r.(?)" "p.(Gly1136Val)" "23"
"0000768010" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000768011" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000768012" "00001847" "90" "4947" "0" "4947" "0" "c.4947del" "r.(?)" "p.(Glu1650Argfs*12)" "35"
"0000768013" "00001847" "70" "2947" "0" "2947" "0" "c.2947A>G" "r.(?)" "p.(Thr983Ala)" "20"
"0000768014" "00001847" "70" "286" "0" "286" "0" "c.286A>G" "r.(?)" "p.(Asn96Asp)" "3"
"0000768015" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000768016" "00001847" "90" "2971" "0" "2971" "0" "c.2971G>C" "r.(?)" "p.(Gly991Arg)" "20"
"0000768017" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000768018" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000768019" "00001847" "50" "2925" "0" "2925" "0" "c.2925C>G" "r.(?)" "p.(Ile975Met)" "20"
"0000768020" "00001847" "90" "2971" "0" "2971" "0" "c.2971G>C" "r.(?)" "p.(Gly991Arg)" "20"
"0000768021" "00001847" "90" "2971" "0" "2971" "0" "c.2971G>C" "r.(?)" "p.(Gly991Arg)" "20"
"0000768022" "00001847" "50" "2813" "0" "2813" "0" "c.2813T>C" "r.(?)" "p.(Phe938Ser)" "19"
"0000768023" "00001847" "70" "2947" "0" "2947" "0" "c.2947A>G" "r.(?)" "p.(Thr983Ala)" "20"
"0000768024" "00001847" "90" "5059" "0" "5059" "0" "c.5059del" "r.(?)" "p.(Ile1687Phefs*15)" "36"
"0000768025" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000768026" "00001847" "70" "71" "0" "71" "0" "c.71G>A" "r.(?)" "p.(Arg24Cys)" "2"
"0000768027" "00001847" "70" "4253" "5" "4253" "5" "c.4253+5G>T" "r.[4129_4253del,=]" "p.[Ile1377Hisfs*3,=]" "28i"
"0000768028" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000768029" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000768030" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000768031" "00001847" "70" "2915" "0" "2915" "0" "c.2915C>A" "r.(?)" "p.(Thr972Asn)" "19"
"0000768032" "00001847" "70" "3323" "0" "3323" "0" "c.3323G>A" "r.(?)" "p.(Arg1108His)" "22"
"0000768033" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000768034" "00001847" "70" "4457" "0" "4457" "0" "c.4457C>T" "r.(?)" "p.(Pro1486Leu)" "30"
"0000768035" "00001847" "70" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" "31"
"0000768036" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000768037" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000768038" "00001847" "90" "3292" "0" "3292" "0" "c.3292C>T" "r.(?)" "p.(Arg1098Cys)" "22"
"0000768039" "00001847" "90" "4437" "0" "4437" "0" "c.4437G>A" "r.(?)" "p.(Trp1479*)" "30"
"0000768040" "00001847" "70" "6545" "0" "6580" "0" "c.6545_6580del" "r.(?)" "p.(Leu2182_Phe2193del)" "48"
"0000768041" "00001847" "70" "859" "-9" "859" "-9" "c.859-9T>C" "r.[=,859_1356del]" "p.[=,Phe287_Arg452del]" "7i"
"0000768042" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000768043" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000768044" "00001847" "70" "2461" "0" "2461" "0" "c.2461T>A" "r.(?)" "p.(Trp821Arg)" "16"
"0000768045" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000768046" "00001847" "90" "2041" "0" "2041" "0" "c.2041C>T" "r.(?)" "p.(Arg681*)" "14"
"0000768047" "00001847" "50" "3758" "0" "3758" "0" "c.3758C>T" "r.(?)" "p.(Thr1253Met)" "25"
"0000768048" "00001847" "50" "3758" "0" "3758" "0" "c.3758C>T" "r.(?)" "p.(Thr1253Met)" "25"
"0000768049" "00001847" "50" "3758" "0" "3758" "0" "c.3758C>T" "r.(?)" "p.(Thr1253Met)" "25"
"0000768050" "00001847" "90" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.(Met1Val)" "1"
"0000768051" "00001847" "70" "3050" "5" "3050" "5" "c.3050+5G>A" "r.2919_3050del" "p.(Leu973_His1017delinsPhe)" "20i"
"0000768052" "00001847" "70" "859" "-9" "859" "-9" "c.859-9T>C" "r.[=,859_1356del]" "p.[=,Phe287_Arg452del]" "7i"
"0000768053" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000768054" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000768055" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000768056" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000768057" "00001847" "70" "3323" "0" "3323" "0" "c.3323G>A" "r.(?)" "p.(Arg1108His)" "22"
"0000768058" "00001847" "70" "3323" "0" "3323" "0" "c.3323G>A" "r.(?)" "p.(Arg1108His)" "22"
"0000768059" "00001847" "90" "3911" "0" "3911" "0" "c.3911T>A" "r.(?)" "p.(Leu1304*)" "27"
"0000768060" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000768061" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000768062" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000768063" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000768064" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000768065" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000768066" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.[(768g>u;768_769ins768+1_768+35)]" "p.(Leu257Valfs*17)" "6"
"0000768067" "00001847" "90" "1025" "0" "1038" "0" "c.1025_1038del" "r.(?)" "p.(Asp342Glyfs*6)" "8"
"0000768068" "00001847" "90" "3470" "0" "3470" "0" "c.3470T>G" "r.(?)" "p.(Leu1157*)" "23"
"0000768069" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000768070" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000768071" "00001847" "90" "66" "0" "66" "0" "c.66G>A" "r.(?)" "p.(=)" "1"
"0000768072" "00001847" "70" "2627" "0" "2627" "0" "c.2627A>C" "r.(?)" "p.(Gln876Pro)" "17"
"0000768073" "00001847" "90" "1819" "0" "1819" "0" "c.1819G>A" "r.(?)" "p.(Gly607Arg)" "13"
"0000768074" "00001847" "50" "2617" "0" "2617" "0" "c.2617T>C" "r.(?)" "p.(Phe873Leu)" "17"
"0000768075" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000768076" "00001847" "70" "2947" "0" "2947" "0" "c.2947A>G" "r.(?)" "p.(Thr983Ala)" "20"
"0000768077" "00001847" "70" "3287" "0" "3287" "0" "c.3287C>T" "r.(?)" "p.(Ser1096Leu)" "22"
"0000768078" "00001847" "90" "478" "0" "478" "0" "c.478G>T" "r.(?)" "p.(Glu160*)" "5"
"0000768079" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000768080" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000768081" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000768082" "00001847" "90" "1025" "0" "1038" "0" "c.1025_1038del" "r.(?)" "p.(Asp342Glyfs*6)" "8"
"0000768083" "00001847" "50" "2813" "0" "2813" "0" "c.2813T>C" "r.(?)" "p.(Phe938Ser)" "19"
"0000768084" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000768085" "00001847" "90" "4667" "0" "4667" "0" "c.4667G>A" "r.4635_4667del" "p.(Ser1545_Gln1555del)" "32"
"0000768086" "00001847" "90" "3056" "0" "3056" "0" "c.3056C>T" "r.(?)" "p.(Thr1019Met)" "21"
"0000768087" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000768088" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000768089" "00001847" "90" "5196" "1" "5196" "1" "c.5196+1G>A" "r.spl" "p.?" "36i"
"0000768090" "00001847" "70" "1648" "0" "1648" "0" "c.1648G>A" "r.(?)" "p.(Gly550Arg)" "12"
"0000768091" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000768092" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000768093" "00001847" "90" "716" "0" "716" "0" "c.716G>A" "r.(?)" "p.(Trp239*)" "6"
"0000768094" "00001847" "90" "5312" "2" "5312" "2" "c.5312+2T>G" "r.spl" "p.?" "37i"
"0000768095" "00001847" "90" "6088" "0" "6088" "0" "c.6088C>T" "r.(?)" "p.(Arg2030*)" "44"
"0000768096" "00001847" "90" "1375" "0" "1375" "0" "c.1375del" "r.(?)" "p.(Thr459Glnfs*2)" "11"
"0000768097" "00001847" "70" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" "31"
"0000768098" "00001847" "90" "1819" "0" "1819" "0" "c.1819G>A" "r.(?)" "p.(Gly607Arg)" "13"
"0000768099" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000768100" "00001847" "70" "688" "0" "688" "0" "c.688T>A" "r.(?)" "p.(Cys230Ser)" "6"
"0000768101" "00001847" "70" "3385" "0" "3385" "0" "c.3385C>T" "r.(?)" "p.(Arg1129Cys)" "23"
"0000768102" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000768103" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000768104" "00001847" "70" "4253" "5" "4253" "5" "c.4253+5G>A" "r.4129_4253del" "p.(Ile1377Hisfs*3)" "28i"
"0000768105" "00001847" "90" "3898" "0" "3898" "0" "c.3898C>T" "r.(?)" "p.(Arg1300*)" "27"
"0000768106" "00001847" "70" "4538" "0" "4538" "0" "c.4538A>G" "r.[4539_4540ins4540+1_4530+30,4467_4539del]" "p.(Arg1513_Arg1514ins10,Cys1490Glufs*12)" "30"
"0000768107" "00001847" "90" "3554" "0" "3555" "0" "c.3554_3555delinsGA" "r.(?)" "p.(Ser1185*)" "24"
"0000768108" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000768109" "00001847" "90" "302" "1" "302" "1" "c.302+1G>A" "r.spl" "p.?" "3i"
"0000768110" "00001847" "70" "3050" "5" "3050" "5" "c.3050+5G>A" "r.2919_3050del" "p.(Leu973_His1017delinsPhe)" "20i"
"0000768111" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.[(768g>u;768_769ins768+1_768+35)]" "p.(Leu257Valfs*17)" "6"
"0000768112" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000768113" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000768114" "00001847" "70" "1015" "0" "1015" "0" "c.1015T>G" "r.(?)" "p.(Trp339Gly)" "8"
"0000768115" "00001847" "50" "1577" "0" "1577" "0" "c.1577A>C" "r.(?)" "p.(Glu526Ala)" "12"
"0000768116" "00001847" "50" "1577" "0" "1577" "0" "c.1577A>C" "r.(?)" "p.(Glu526Ala)" "12"
"0000768117" "00001847" "70" "1609" "0" "1609" "0" "c.1609C>T" "r.(?)" "p.(Arg537Cys)" "12"
"0000768118" "00001847" "90" "2966" "0" "2966" "0" "c.2966T>C" "r.(?)" "p.(Val989Ala)" "20"
"0000768119" "00001847" "90" "2971" "0" "2971" "0" "c.2971G>C" "r.(?)" "p.(Gly991Arg)" "20"
"0000768120" "00001847" "70" "4223" "0" "4223" "0" "c.4223G>T" "r.(?)" "p.(Trp1408Leu)" "28"
"0000768121" "00001847" "70" "428" "0" "428" "0" "c.428C>T" "r.(?)" "p.(Pro143Leu)" "4"
"0000768122" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000768123" "00001847" "70" "6229" "0" "6229" "0" "c.6229C>G" "r.(?)" "p.(Arg2077Gly)" "45"
"0000768124" "00001847" "90" "6316" "0" "6316" "0" "c.6316C>T" "r.(?)" "p.(Arg2106Cys)" "46"
"0000768125" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000768126" "00001847" "50" "658" "0" "658" "0" "c.658C>T" "r.(?)" "p.(Arg220Cys)" "6"
"0000768127" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000768128" "00001847" "90" "454" "0" "454" "0" "c.454C>T" "r.(?)" "p.(Arg152*)" "5"
"0000768129" "00001847" "90" "885" "0" "885" "0" "c.885del" "r.(?)" "p.(Leu296Cysfs*4)" "8"
"0000768130" "00001847" "90" "885" "0" "885" "0" "c.885del" "r.(?)" "p.(Leu296Cysfs*4)" "8"
"0000768131" "00001847" "70" "1805" "0" "1805" "0" "c.1805G>A" "r.(?)" "p.(Arg602Gln)" "13"
"0000768132" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000768133" "00001847" "90" "5196" "1" "5196" "1" "c.5196+1G>A" "r.spl" "p.?" "36i"
"0000768134" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000768135" "00001847" "70" "4222" "0" "4222" "0" "c.4222T>C" "r.(?)" "p.(Trp1408Arg)" "28"
"0000768136" "00001847" "90" "3056" "0" "3056" "0" "c.3056C>T" "r.(?)" "p.(Thr1019Met)" "21"
"0000768137" "00001847" "90" "4036" "0" "4037" "0" "c.4036_4037del" "r.(?)" "p.(Thr1346Glyfs*75)" "27"
"0000768138" "00001847" "90" "2564" "0" "2564" "0" "c.2564G>A" "r.(?)" "p.(Trp855*)" "16"
"0000768139" "00001847" "70" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" "31"
"0000768140" "00001847" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408*)" "9"
"0000768141" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000768142" "00001847" "90" "4537" "0" "4537" "0" "c.4537dup" "r.(?)" "p.(Gln1513Profs*42)" "30"
"0000768143" "00001847" "90" "2966" "0" "2966" "0" "c.2966T>C" "r.(?)" "p.(Val989Ala)" "20"
"0000768144" "00001847" "90" "2966" "0" "2966" "0" "c.2966T>C" "r.(?)" "p.(Val989Ala)" "20"
"0000768145" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000768146" "00001847" "70" "859" "-9" "859" "-9" "c.859-9T>C" "r.[=,859_1356del]" "p.[=,Phe287_Arg452del]" "7i"
"0000768147" "00001847" "90" "4526" "0" "4536" "0" "c.4526_4536del" "r.(?)" "p.(Leu1509Profs*42)" "30"
"0000768148" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000768149" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000768150" "00001847" "90" "2966" "0" "2966" "0" "c.2966T>C" "r.(?)" "p.(Val989Ala)" "20"
"0000768151" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000768152" "00001847" "70" "71" "0" "71" "0" "c.71G>A" "r.(?)" "p.(Arg24Cys)" "2"
"0000768153" "00001847" "90" "1957" "0" "1957" "0" "c.1957C>T" "r.(?)" "p.(Arg653Cys)" "14"
"0000768154" "00001847" "90" "1995" "0" "1995" "0" "c.1995C>A" "r.(?)" "p.(Tyr655*)" "14"
"0000768155" "00001847" "90" "2966" "0" "2966" "0" "c.2966T>C" "r.(?)" "p.(Val989Ala)" "20"
"0000768156" "00001847" "70" "52" "0" "52" "0" "c.52C>T" "r.(?)" "p.(Arg18Trp)" "1"
"0000768157" "00001847" "90" "1317" "0" "1317" "0" "c.1317G>A" "r.(?)" "p.(Trp439*)" "10"
"0000768158" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000768159" "00001847" "50" "5395" "0" "5395" "0" "c.5395A>G" "r.(?)" "p.(Asn1799Asp)" "38"
"0000768160" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000768161" "00001847" "70" "4670" "0" "4670" "0" "c.4670A>G" "r.(?)" "p.(Tyr1557Cys)" "33"
"0000768162" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000768163" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000768164" "00001847" "90" "655" "0" "655" "0" "c.655A>T" "r.(?)" "p.(Arg219*)" "6"
"0000768165" "00001847" "70" "3481" "0" "3481" "0" "c.3481C>A" "r.(?)" "p.(Arg1161Ser)" "23"
"0000768166" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000768167" "00001847" "70" "4249" "0" "4251" "0" "c.4249_4251del" "r.(?)" "p.(Phe1417del)" "28"
"0000768168" "00001847" "90" "247" "0" "250" "0" "c.247_250dup" "r.(?)" "p.(Ser84Thrfs*16)" "3"
"0000768169" "00001847" "70" "161" "0" "161" "0" "c.161G>A" "r.[161_302del,161g>a]" "p.[Cys54Serfs*14,Cys54Tyr]" "3"
"0000768170" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000768171" "00001847" "70" "91" "0" "91" "0" "c.91T>C" "r.(?)" "p.(Trp31Arg)" "2"
"0000768172" "00001847" "90" "93" "0" "93" "0" "c.93G>A" "r.(?)" "p.(Trp31*)" "2"
"0000768173" "00001847" "90" "5018" "2" "5018" "2" "c.5018+2T>C" "r.spl" "p.?" "35i"
"0000768174" "00001847" "70" "179" "0" "179" "0" "c.179C>T" "r.(?)" "p.(Ala60Val)" "3"
"0000768175" "00001847" "70" "2549" "0" "2549" "0" "c.2549A>G" "r.(?)" "p.(Tyr850Cys)" "16"
"0000768176" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000768177" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000768178" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000768179" "00001847" "70" "1529" "0" "1529" "0" "c.1529T>C" "r.(?)" "p.(Leu510Pro)" "11"
"0000768180" "00001847" "50" "3352" "0" "3352" "0" "c.3352C>T" "r.(?)" "p.(His1118Tyr)" "23"
"0000768181" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000768182" "00001847" "70" "71" "0" "71" "0" "c.71G>A" "r.(?)" "p.(Arg24Cys)" "2"
"0000768183" "00001847" "70" "872" "0" "872" "0" "c.872C>T" "r.(?)" "p.(Pro291Leu)" "8"
"0000768184" "00001847" "90" "3754" "0" "3754" "0" "c.3754G>T" "r.(?)" "p.(Glu1252*)" "25"
"0000768185" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000768186" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000768187" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000768188" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000768189" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000768190" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000768191" "00001847" "90" "2069" "0" "2069" "0" "c.2069del" "r.(?)" "p.(Gly690Valfs*6)" "14"
"0000768192" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000768193" "00001847" "70" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" "35"
"0000768194" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000768195" "00001847" "90" "571" "-1" "571" "-1" "c.571-1G>T" "r.spl" "p.?" "5i"
"0000768196" "00001847" "70" "6229" "0" "6229" "0" "c.6229C>T" "r.(?)" "p.(Arg2077Trp)" "45"
"0000768197" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000768198" "00001847" "90" "5196" "1" "5196" "1" "c.5196+1G>A" "r.spl" "p.?" "36i"
"0000768199" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000768200" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000768201" "00001847" "90" "4234" "0" "4234" "0" "c.4234C>T" "r.(?)" "p.(Gln1412*)" "28"
"0000768202" "00001847" "90" "1957" "0" "1957" "0" "c.1957C>T" "r.(?)" "p.(Arg653Cys)" "14"
"0000768203" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000768204" "00001847" "90" "6386" "1" "6386" "1" "c.6386+1G>A" "r.spl" "p.?" "46i"
"0000768205" "00001847" "70" "52" "0" "52" "0" "c.52C>T" "r.(?)" "p.(Arg18Trp)" "1"
"0000768206" "00001847" "70" "262" "0" "262" "0" "c.262G>A" "r.(?)" "p.(Gly88Arg)" "3"
"0000768207" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000768208" "00001847" "90" "3328" "1" "3328" "1" "c.3328+1G>A" "r.spl" "p.?" "22i"
"0000768209" "00001847" "90" "4234" "0" "4234" "0" "c.4234C>T" "r.(?)" "p.(Gln1412*)" "28"
"0000768210" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000768211" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000768212" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000768213" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000768214" "00001847" "70" "1921" "0" "1921" "0" "c.1921T>C" "r.(?)" "p.(Cys641Arg)" "13"
"0000768215" "00001847" "70" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" "35"
"0000768216" "00001847" "90" "6166" "0" "6166" "0" "c.6166A>T" "r.(?)" "p.(Lys2056*)" "45"
"0000768217" "00001847" "90" "3846" "0" "3846" "0" "c.3846del" "r.(?)" "p.(Gly1283Aspfs*106)" "26"
"0000768218" "00001847" "90" "6386" "2" "6386" "2" "c.6386+2C>G" "r.(?)" "p.(?)" "46i"
"0000768219" "00001847" "70" "161" "0" "161" "0" "c.161G>A" "r.[161_302del,161g>a]" "p.[Cys54Serfs*14,Cys54Tyr]" "3"
"0000768220" "00001847" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408*)" "9"
"0000768221" "00001847" "50" "868" "0" "868" "0" "c.868C>T" "r.(?)" "p.(Arg290Trp)" "8"
"0000768222" "00001847" "70" "6545" "0" "6580" "0" "c.6545_6580del" "r.(?)" "p.(Leu2182_Phe2193del)" "48"
"0000768223" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000768224" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000768225" "00001847" "90" "1903" "0" "1903" "0" "c.1903C>T" "r.(?)" "p.(Gln635*)" "13"
"0000768226" "00001847" "90" "3261" "0" "3261" "0" "c.3261A>C" "r.(?)" "p.(Glu1087Asp)" "22"
"0000768227" "00001847" "90" "161" "-1" "161" "-1" "c.161-1G>A" "r.spl" "p.?" "2i"
"0000768228" "00001847" "70" "5923" "0" "5923" "0" "c.5923G>C" "r.(?)" "p.(Gly1975Arg)" "43"
"0000768229" "00001847" "90" "3259" "0" "3259" "0" "c.3259G>A" "r.(?)" "p.(Glu1087Lys)" "22"
"0000768230" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000768231" "00001847" "90" "45" "0" "45" "0" "c.45G>A" "r.(?)" "p.(Trp15*)" "1"
"0000768232" "00001847" "70" "3812" "0" "3812" "0" "c.3812A>G" "r.3608_3813del" "p.(Gly1203Aspfs*10)" "25"
"0000768233" "00001847" "70" "6229" "0" "6229" "0" "c.6229C>T" "r.(?)" "p.(Arg2077Trp)" "45"
"0000768234" "00001847" "90" "1906" "0" "1906" "0" "c.1906C>T" "r.(?)" "p.(Gln636*)" "13"
"0000768235" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000768236" "00001847" "70" "4222" "0" "4222" "0" "c.4222T>C" "r.(?)" "p.(Trp1408Arg)" "28"
"0000768237" "00001847" "90" "247" "0" "250" "0" "c.247_250dup" "r.(?)" "p.(Ser84Thrfs*16)" "3"
"0000768238" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000768239" "00001847" "70" "3148" "0" "3148" "0" "c.3148G>A" "r.(?)" "p.(Gly1050Ser)" "21"
"0000768240" "00001847" "90" "735" "0" "735" "0" "c.735T>G" "r.(?)" "p.(Tyr245*)" "6"
"0000768241" "00001847" "70" "3148" "0" "3148" "0" "c.3148G>A" "r.(?)" "p.(Gly1050Ser)" "21"
"0000768242" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000768243" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000768244" "00001847" "50" "4248" "0" "4248" "0" "c.4248C>A" "r.(?)" "p.(Phe1416Leu)" "28"
"0000768245" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000768246" "00001847" "90" "247" "0" "250" "0" "c.247_250dup" "r.(?)" "p.(Ser84Thrfs*16)" "3"
"0000768247" "00001847" "50" "3043" "0" "3043" "0" "c.3043T>C" "r.(?)" "p.(Phe1015Leu)" "20"
"0000768248" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000768249" "00001847" "90" "2971" "0" "2971" "0" "c.2971G>C" "r.(?)" "p.(Gly991Arg)" "20"
"0000768250" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000768251" "00001847" "70" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" "35"
"0000768252" "00001847" "90" "2966" "0" "2966" "0" "c.2966T>C" "r.(?)" "p.(Val989Ala)" "20"
"0000768253" "00001847" "70" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" "31"
"0000768254" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000768255" "00001847" "50" "733" "0" "733" "0" "c.733T>C" "r.(?)" "p.(Tyr245His)" "6"
"0000768256" "00001847" "70" "4793" "0" "4793" "0" "c.4793C>A" "r.(?)" "p.(Ala1598Asp)" "34"
"0000768257" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000768258" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000768259" "00001847" "50" "5761" "0" "5761" "0" "c.5761G>A" "r.(?)" "p.(Val1921Met)" "41"
"0000768260" "00001847" "90" "3292" "0" "3292" "0" "c.3292C>T" "r.(?)" "p.(Arg1098Cys)" "22"
"0000768261" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000768262" "00001847" "50" "4353" "-4" "4353" "-4" "c.4353-4T>C" "r.(?)" "p.(?)" "29i"
"0000768263" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000768264" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000768265" "00001847" "70" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" "44"
"0000768266" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000768267" "00001847" "90" "2616" "0" "2616" "0" "c.2616del" "r.(?)" "p.(Leu874Phefs*27)" "17"
"0000768268" "00001847" "70" "161" "0" "161" "0" "c.161G>A" "r.[161_302del,161g>a]" "p.[Cys54Serfs*14,Cys54Tyr]" "3"
"0000768269" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000768270" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000768271" "00001847" "90" "5312" "1" "5312" "1" "c.5312+1G>A" "r.spl" "p.?" "37i"
"0000768272" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000768273" "00001847" "90" "2966" "0" "2966" "0" "c.2966T>C" "r.(?)" "p.(Val989Ala)" "20"
"0000768274" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000768275" "00001847" "70" "6229" "0" "6229" "0" "c.6229C>T" "r.(?)" "p.(Arg2077Trp)" "45"
"0000768276" "00001847" "90" "2041" "0" "2041" "0" "c.2041C>T" "r.(?)" "p.(Arg681*)" "14"
"0000768277" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000768278" "00001847" "70" "5881" "0" "5881" "0" "c.5881G>A" "r.(?)" "p.(Gly1961Arg)" "42"
"0000768279" "00001847" "70" "6694" "0" "6694" "0" "c.6694G>A" "r.(?)" "p.(Glu2232Lys)" "48"
"0000768280" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000768281" "00001847" "70" "1034" "0" "1034" "0" "c.1034A>G" "r.(?)" "p.(Tyr345Cys)" "8"
"0000768282" "00001847" "90" "6088" "0" "6088" "0" "c.6088C>T" "r.(?)" "p.(Arg2030*)" "44"
"0000768283" "00001847" "50" "1699" "0" "1699" "0" "c.1699G>A" "r.(?)" "p.(Val567Met)" "12"
"0000768284" "00001847" "50" "184" "0" "184" "0" "c.184C>T" "r.(?)" "p.(Pro62Ser)" "3"
"0000768285" "00001847" "50" "3758" "0" "3758" "0" "c.3758C>T" "r.(?)" "p.(Thr1253Met)" "25"
"0000768286" "00001847" "70" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" "31"
"0000768287" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000768288" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000768289" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000768290" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000768291" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000768292" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000768293" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000768294" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000768295" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000768296" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000768297" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000768298" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000768299" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000768300" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000768301" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000768302" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000768303" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000768304" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000768305" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000768306" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000768307" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000768308" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000768309" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000768310" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000768311" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000768312" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000768313" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000768314" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000768315" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000768316" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000768317" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000768318" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000768319" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000768320" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000768321" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000768322" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000768323" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000768324" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000768325" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000768326" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000768327" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000768328" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000768329" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000768330" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000768331" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000768332" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000768333" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000768334" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000768335" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000768336" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000768337" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000768338" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000768339" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000768340" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000768341" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000768342" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000768343" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000768344" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000768345" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000768346" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000768347" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000768348" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000768349" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000768350" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000768351" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000768352" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000768353" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000768354" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000768355" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000768356" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000768357" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000768358" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000768359" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000768360" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000768361" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000768362" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000768363" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000768364" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000768365" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000768366" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000768367" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000768368" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000768369" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000768370" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000768371" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000768372" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000768373" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000768374" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000768375" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000768376" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000768377" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000768378" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000768379" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000768380" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000768381" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000768382" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000768383" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000768384" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000768385" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000768386" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000768387" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.[(768g>u;768_769ins768+1_768+35)]" "p.(Leu257Valfs*17)" "6"
"0000768388" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.[(768g>u;768_769ins768+1_768+35)]" "p.(Leu257Valfs*17)" "6"
"0000768389" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.[(768g>u;768_769ins768+1_768+35)]" "p.(Leu257Valfs*17)" "6"
"0000768390" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.[(768g>u;768_769ins768+1_768+35)]" "p.(Leu257Valfs*17)" "6"
"0000768391" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.[(768g>u;768_769ins768+1_768+35)]" "p.(Leu257Valfs*17)" "6"
"0000768392" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.[(768g>u;768_769ins768+1_768+35)]" "p.(Leu257Valfs*17)" "6"
"0000768393" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000768394" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000768395" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000768396" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000768397" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000768398" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000768399" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000768400" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000768401" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000768402" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000768403" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000768404" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000768405" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000768406" "00001847" "50" "4539" "1321" "4539" "1321" "c.4539+1321A>G" "r.?" "p.(?)" "30"
"0000768407" "00001847" "90" "2041" "0" "2041" "0" "c.2041C>T" "r.(?)" "p.(Arg681*)" "14"
"0000768408" "00001847" "90" "2041" "0" "2041" "0" "c.2041C>T" "r.(?)" "p.(Arg681*)" "14"
"0000768409" "00001847" "90" "2041" "0" "2041" "0" "c.2041C>T" "r.(?)" "p.(Arg681*)" "14"
"0000768410" "00001847" "90" "2041" "0" "2041" "0" "c.2041C>T" "r.(?)" "p.(Arg681*)" "14"
"0000768411" "00001847" "70" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" "35"
"0000768412" "00001847" "70" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" "35"
"0000768413" "00001847" "70" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.[=,5196_5197ins5196+1140_5196+1212]" "p.[=,Met1733Glufs*78]" "36i"
"0000768414" "00001847" "70" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.[=,5196_5197ins5196+1140_5196+1212]" "p.[=,Met1733Glufs*78]" "36i"
"0000768415" "00001847" "70" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.[=,5196_5197ins5196+1140_5196+1212]" "p.[=,Met1733Glufs*78]" "36i"
"0000768416" "00001847" "70" "2300" "0" "2300" "0" "c.2300T>A" "r.(?)" "p.(Val767Asp)" "15"
"0000768417" "00001847" "70" "2300" "0" "2300" "0" "c.2300T>A" "r.(?)" "p.(Val767Asp)" "15"
"0000768418" "00001847" "70" "2300" "0" "2300" "0" "c.2300T>A" "r.(?)" "p.(Val767Asp)" "15"
"0000768419" "00001847" "50" "5693" "0" "5693" "0" "c.5693G>A" "r.(?)" "p.(Arg1898His)" "40"
"0000768420" "00001847" "50" "5693" "0" "5693" "0" "c.5693G>A" "r.(?)" "p.(Arg1898His)" "40"
"0000768421" "00001847" "70" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" "44"
"0000768422" "00001847" "70" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" "44"
"0000768423" "00001847" "90" "5312" "1" "5312" "1" "c.5312+1G>A" "r.spl" "p.?" "37i"
"0000768424" "00001847" "90" "5312" "1" "5312" "1" "c.5312+1G>A" "r.spl" "p.?" "37i"
"0000768425" "00001847" "70" "1015" "0" "1015" "0" "c.1015T>G" "r.(?)" "p.(Trp339Gly)" "8"
"0000768426" "00001847" "70" "1015" "0" "1015" "0" "c.1015T>G" "r.(?)" "p.(Trp339Gly)" "8"
"0000768427" "00001847" "70" "4124" "0" "4124" "0" "c.4124C>A" "r.(?)" "p.(Ala1375Glu)" "27"
"0000768428" "00001847" "70" "179" "0" "179" "0" "c.179C>T" "r.(?)" "p.(Ala60Val)" "3"
"0000768429" "00001847" "90" "3292" "0" "3292" "0" "c.3292C>T" "r.(?)" "p.(Arg1098Cys)" "22"
"0000768430" "00001847" "50" "5459" "0" "5459" "0" "c.5459G>C" "r.(?)" "p.(Arg1820Pro)" "38"
"0000768431" "00001847" "70" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" "44"
"0000768432" "00001847" "90" "1957" "0" "1957" "0" "c.1957C>T" "r.(?)" "p.(Arg653Cys)" "14"
"0000768433" "00001847" "90" "6310" "0" "6310" "0" "c.6310del" "r.(?)" "p.(Gln2104Argfs*11)" "46"
"0000768434" "00001847" "70" "6545" "0" "6580" "0" "c.6545_6580del" "r.(?)" "p.(Leu2182_Phe2193del)" "48"
"0000768435" "00001847" "50" "1933" "0" "1933" "0" "c.1933G>A" "r.(?)" "p.(Asp645Asn)" "13"
"0000768436" "00001847" "70" "4538" "0" "4538" "0" "c.4538A>G" "r.[4539_4540ins4540+1_4530+30,4467_4539del]" "p.(Arg1513_Arg1514ins10,Cys1490Glufs*12)" "30"
"0000768437" "00001847" "90" "3259" "0" "3259" "0" "c.3259G>A" "r.(?)" "p.(Glu1087Lys)" "22"
"0000768438" "00001847" "70" "4676" "0" "4676" "0" "c.4676G>A" "r.(?)" "p.(Gly1559Glu)" "33"
"0000768439" "00001847" "90" "2383" "-1" "2383" "-1" "c.2383-1G>A" "r.spl" "p.?" "15i"
"0000768440" "00001847" "70" "6229" "0" "6229" "0" "c.6229C>T" "r.(?)" "p.(Arg2077Trp)" "45"
"0000768441" "00001847" "70" "2265" "0" "2265" "0" "c.2265C>G" "r.(?)" "p.(Phe755Leu)" "15"
"0000768442" "00001847" "70" "4457" "0" "4457" "0" "c.4457C>T" "r.(?)" "p.(Pro1486Leu)" "30"
"0000768443" "00001847" "70" "3287" "0" "3287" "0" "c.3287C>T" "r.(?)" "p.(Ser1096Leu)" "22"
"0000768444" "00001847" "90" "6319" "0" "6319" "0" "c.6319C>T" "r.(?)" "p.(Arg2107Cys)" "46"
"0000768445" "00001847" "90" "1957" "0" "1957" "0" "c.1957C>T" "r.(?)" "p.(Arg653Cys)" "14"
"0000768446" "00001847" "50" "4326" "0" "4326" "0" "c.4326C>A" "r.(?)" "p.(Asn1442Lys)" "29"
"0000768447" "00001847" "70" "4594" "0" "4594" "0" "c.4594G>A" "r.(?)" "p.(Asp1532Asn)" "31"
"0000768448" "00001847" "90" "1903" "0" "1903" "0" "c.1903C>T" "r.(?)" "p.(Gln635*)" "13"
"0000768449" "00001847" "70" "1253" "0" "1253" "0" "c.1253T>C" "r.(?)" "p.(Phe418Ser)" "10"
"0000768450" "00001847" "70" "3428" "0" "3428" "0" "c.3428C>A" "r.(?)" "p.(Thr1143Asn)" "23"
"0000768451" "00001847" "90" "4228" "0" "4231" "0" "c.4228_4231dup" "r.(?)" "p.(Gly1411Valfs*12)" "28"
"0000768452" "00001847" "90" "5175" "0" "5175" "0" "c.5175dup" "r.(?)" "p.(Thr1726Aspfs*61)" "36"
"0000768453" "00001847" "50" "1654" "0" "1654" "0" "c.1654G>A" "r.(?)" "p.(Val552Ile)" "12"
"0000768454" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000768455" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000768456" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000768457" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000768458" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.[(768g>u;768_769ins768+1_768+35)]" "p.(Leu257Valfs*17)" "6"
"0000768459" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000768460" "00001847" "90" "1344" "0" "1344" "0" "c.1344del" "r.(?)" "p.(Met448Ilefs*3)" "10"
"0000768461" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000768462" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000768463" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000768464" "00001847" "90" "3523" "-2" "3523" "-2" "c.3523-2A>G" "r.spl" "p.?" "23i"
"0000768465" "00001847" "70" "4748" "0" "4748" "0" "c.4748T>C" "r.(?)" "p.(Leu1583Pro)" "33"
"0000768466" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000768467" "00001847" "90" "850" "0" "857" "0" "c.850_857del" "r.(?)" "p.(Ile284Valfs*35)" "7"
"0000768468" "00001847" "70" "6306" "0" "6306" "0" "c.6306C>A" "r.(?)" "p.(Asp2102Glu)" "46"
"0000768469" "00001847" "70" "6306" "0" "6306" "0" "c.6306C>A" "r.(?)" "p.(Asp2102Glu)" "46"
"0000768470" "00001847" "90" "885" "0" "885" "0" "c.885del" "r.(?)" "p.(Leu296Cysfs*4)" "8"
"0000768471" "00001847" "90" "5312" "1" "5312" "1" "c.5312+1G>A" "r.spl" "p.?" "37i"
"0000768472" "00001847" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408*)" "9"
"0000768473" "00001847" "90" "735" "0" "735" "0" "c.735T>G" "r.(?)" "p.(Tyr245*)" "6"
"0000768474" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000768475" "00001847" "90" "571" "-1" "571" "-1" "c.571-1G>T" "r.spl" "p.?" "5i"
"0000768476" "00001847" "90" "571" "-1" "571" "-1" "c.571-1G>T" "r.spl" "p.?" "5i"
"0000768477" "00001847" "90" "4036" "0" "4037" "0" "c.4036_4037del" "r.(?)" "p.(Thr1346Glyfs*75)" "27"
"0000768478" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000768479" "00001847" "90" "3554" "0" "3555" "0" "c.3554_3555delinsGA" "r.(?)" "p.(Ser1185*)" "24"
"0000768480" "00001847" "70" "91" "0" "91" "0" "c.91T>C" "r.(?)" "p.(Trp31Arg)" "2"
"0000768481" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000768482" "00001847" "90" "5018" "2" "5018" "2" "c.5018+2T>C" "r.spl" "p.?" "35i"
"0000768483" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000768484" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000768485" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000768486" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000768487" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000768488" "00001847" "90" "1873" "0" "1873" "0" "c.1873C>T" "r.(?)" "p.(Gln625*)" "13"
"0000768489" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000768490" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000768491" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000768492" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000768493" "00001847" "70" "6221" "0" "6221" "0" "c.6221G>T" "r.(?)" "p.(Gly2074Val)" "45"
"0000768494" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000768495" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000768496" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000768497" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000768498" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000768499" "00001847" "70" "3377" "0" "3377" "0" "c.3377T>A" "r.(?)" "p.(Leu1126His)" "23"
"0000768500" "00001847" "70" "3377" "0" "3377" "0" "c.3377T>A" "r.(?)" "p.(Leu1126His)" "23"
"0000768501" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000768502" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000768503" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000768504" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000768505" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000768506" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000768507" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000768508" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000768509" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000768510" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000768511" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000768512" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000768513" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000768514" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000768515" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000768516" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000768517" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000768518" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000768519" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000768520" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000768521" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000768522" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000768523" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000768524" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000768525" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000768526" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000768527" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000768528" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000768529" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000768530" "00001847" "90" "4036" "0" "4037" "0" "c.4036_4037del" "r.(?)" "p.(Thr1346Glyfs*75)" "27"
"0000768531" "00001847" "70" "859" "-9" "859" "-9" "c.859-9T>C" "r.[=,859_1356del]" "p.[=,Phe287_Arg452del]" "7i"
"0000768532" "00001847" "70" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" "31"
"0000768533" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000768534" "00001847" "70" "71" "0" "71" "0" "c.71G>A" "r.(?)" "p.(Arg24Cys)" "2"
"0000768535" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000768536" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000768537" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000768538" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000768539" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000768540" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000768541" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000768542" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000768543" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000768544" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000768545" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000768546" "00001847" "50" "4926" "0" "4926" "0" "c.4926C>G" "r.(?)" "p.(Ser1642Arg)" "35"
"0000768547" "00001847" "50" "4926" "0" "4926" "0" "c.4926C>G" "r.(?)" "p.(Ser1642Arg)" "35"
"0000768548" "00001847" "50" "4926" "0" "4926" "0" "c.4926C>G" "r.(?)" "p.(Ser1642Arg)" "35"
"0000768549" "00001847" "50" "4926" "0" "4926" "0" "c.4926C>G" "r.(?)" "p.(Ser1642Arg)" "35"
"0000768550" "00001847" "50" "4926" "0" "4926" "0" "c.4926C>G" "r.(?)" "p.(Ser1642Arg)" "35"
"0000768551" "00001847" "50" "4926" "0" "4926" "0" "c.4926C>G" "r.(?)" "p.(Ser1642Arg)" "35"
"0000768552" "00001847" "50" "4926" "0" "4926" "0" "c.4926C>G" "r.(?)" "p.(Ser1642Arg)" "35"
"0000768553" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000768554" "00001847" "50" "4926" "0" "4926" "0" "c.4926C>G" "r.(?)" "p.(Ser1642Arg)" "35"
"0000768555" "00001847" "70" "5282" "0" "5282" "0" "c.5282C>G" "r.(?)" "p.(Pro1761Arg)" "37"
"0000768556" "00001847" "70" "5282" "0" "5282" "0" "c.5282C>G" "r.(?)" "p.(Pro1761Arg)" "37"
"0000768557" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000768558" "00001847" "90" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.(Met1Val)" "1"
"0000768559" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000768560" "00001847" "70" "4363" "0" "4363" "0" "c.4363T>C" "r.(?)" "p.(Cys1455Arg)" "30"
"0000768561" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000768562" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000768563" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000768564" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000768565" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000768566" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000768567" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>C" "r.(?)" "p.(Gly1961Ala)" "42"
"0000768568" "00001847" "70" "4793" "0" "4793" "0" "c.4793C>A" "r.(?)" "p.(Ala1598Asp)" "34"
"0000768569" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>C" "r.(?)" "p.(Gly1961Ala)" "42"
"0000768570" "00001847" "70" "2300" "0" "2300" "0" "c.2300T>A" "r.(?)" "p.(Val767Asp)" "15"
"0000768571" "00001847" "70" "5261" "0" "5261" "0" "c.5261A>G" "r.(?)" "p.(Tyr1754Cys)" "37"
"0000768572" "00001847" "90" "61" "0" "61" "0" "c.61C>T" "r.(?)" "p.(Gln21*)" "1"
"0000768573" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>C" "r.(?)" "p.(Gly1961Ala)" "42"
"0000768574" "00001847" "70" "3607" "0" "3607" "0" "c.3607G>A" "r.3523_3607del" "p.(Thr1176Metfs*2)" "24"
"0000768575" "00001847" "90" "4346" "0" "4346" "0" "c.4346G>A" "r.(?)" "p.(Trp1449*)" "29"
"0000768576" "00001847" "50" "5642" "0" "5642" "0" "c.5642C>T" "r.(?)" "p.(Ala1881Val)" "40"
"0000768577" "00001847" "70" "5087" "0" "5087" "0" "c.5087G>A" "r.(?)" "p.(Ser1696Asn)" "36"
"0000768578" "00001847" "70" "4672" "0" "4672" "0" "c.4672G>A" "r.(?)" "p.(Gly1558Arg)" "33"
"0000768579" "00001847" "90" "6282" "1" "6282" "1" "c.6282+1G>C" "r.spl" "p.?" "45i"
"0000768580" "00001847" "70" "5329" "0" "5329" "0" "c.5329A>T" "r.(?)" "p.(Met1777Leu)" "38"
"0000768581" "00001847" "90" "3259" "0" "3259" "0" "c.3259G>A" "r.(?)" "p.(Glu1087Lys)" "22"
"0000768582" "00001847" "70" "5087" "0" "5087" "0" "c.5087G>A" "r.(?)" "p.(Ser1696Asn)" "36"
"0000768583" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>C" "r.(?)" "p.(Gly1961Ala)" "42"
"0000768584" "00001847" "70" "428" "0" "428" "0" "c.428C>T" "r.(?)" "p.(Pro143Leu)" "4"
"0000768585" "00001847" "50" "2690" "0" "2690" "0" "c.2690C>T" "r.(?)" "p.(Thr897Ile)" "18"
"0000768586" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>C" "r.(?)" "p.(Gly1961Ala)" "42"
"0000768587" "00001847" "50" "667" "0" "667" "0" "c.667A>C" "r.(?)" "p.(Lys223Gln)" "6"
"0000768588" "00001847" "70" "2549" "0" "2549" "0" "c.2549A>G" "r.(?)" "p.(Tyr850Cys)" "16"
"0000768589" "00001847" "90" "5961" "0" "5964" "0" "c.5961_5964del" "r.(?)" "p.(Asp1988Profs*3)" "43"
"0000768590" "00001847" "70" "686" "0" "686" "0" "c.686T>C" "r.(?)" "p.(Leu229Pro)" "6"
"0000768591" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>C" "r.(?)" "p.(Gly1961Ala)" "42"
"0000768592" "00001847" "90" "571" "-1" "571" "-1" "c.571-1G>T" "r.spl" "p.?" "5i"
"0000768593" "00001847" "90" "3292" "0" "3292" "0" "c.3292C>T" "r.(?)" "p.(Arg1098Cys)" "22"
"0000768594" "00001847" "70" "6220" "0" "6220" "0" "c.6220G>A" "r.(?)" "p.(Gly2074Ser)" "45"
"0000768595" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>C" "r.(?)" "p.(Gly1961Ala)" "42"
"0000768596" "00001847" "70" "5929" "0" "5929" "0" "c.5929G>A" "r.(?)" "p.(Gly1977Ser)" "43"
"0000768597" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000768598" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000768599" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000768600" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000768601" "00001847" "90" "6658" "0" "6658" "0" "c.6658C>T" "r.(?)" "p.(Gln2220*)" "48"
"0000768602" "00001847" "50" "5693" "0" "5693" "0" "c.5693G>A" "r.(?)" "p.(Arg1898His)" "40"
"0000768603" "00001847" "50" "658" "0" "658" "0" "c.658C>T" "r.(?)" "p.(Arg220Cys)" "6"
"0000768604" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.[(768g>u;768_769ins768+1_768+35)]" "p.(Leu257Valfs*17)" "6"
"0000768605" "00001847" "90" "885" "0" "885" "0" "c.885del" "r.(?)" "p.(Leu296Cysfs*4)" "8"
"0000768606" "00001847" "90" "1086" "0" "1086" "0" "c.1086T>A" "r.(?)" "p.(Tyr362*)" "8"
"0000768607" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000768608" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000768609" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000768610" "00001847" "70" "1919" "0" "1919" "0" "c.1919C>T" "r.(?)" "p.(Pro640Leu)" "13"
"0000768611" "00001847" "70" "2249" "0" "2249" "0" "c.2249T>C" "r.(?)" "p.(Leu750Pro)" "15"
"0000768612" "00001847" "70" "2915" "0" "2915" "0" "c.2915C>A" "r.(?)" "p.(Thr972Asn)" "19"
"0000768613" "00001847" "90" "3056" "0" "3056" "0" "c.3056C>T" "r.(?)" "p.(Thr1019Met)" "21"
"0000768614" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000768615" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000768616" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000768617" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000768618" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000768619" "00001847" "70" "4462" "0" "4462" "0" "c.4462T>C" "r.(?)" "p.(Cys1488Arg)" "30"
"0000768620" "00001847" "70" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" "31"
"0000768621" "00001847" "70" "4748" "0" "4748" "0" "c.4748T>C" "r.(?)" "p.(Leu1583Pro)" "33"
"0000768622" "00001847" "70" "4919" "0" "4919" "0" "c.4919G>A" "r.(?)" "p.(Arg1640Gln)" "35"
"0000768623" "00001847" "70" "5318" "0" "5318" "0" "c.5318C>T" "r.(?)" "p.(Ala1773Val)" "38"
"0000768624" "00001847" "70" "5318" "0" "5318" "0" "c.5318C>T" "r.(?)" "p.(Ala1773Val)" "38"
"0000768625" "00001847" "70" "5318" "0" "5318" "0" "c.5318C>T" "r.(?)" "p.(Ala1773Val)" "38"
"0000768626" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000768627" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000768628" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000768629" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000768630" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000768631" "00001847" "50" "5693" "0" "5693" "0" "c.5693G>A" "r.(?)" "p.(Arg1898His)" "40"
"0000768632" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000768633" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000768634" "00001847" "50" "5908" "0" "5908" "0" "c.5908C>T" "r.(?)" "p.(Leu1970Phe)" "43"
"0000768635" "00001847" "70" "6229" "0" "6229" "0" "c.6229C>T" "r.(?)" "p.(Arg2077Trp)" "45"
"0000768636" "00001847" "70" "214" "0" "214" "0" "c.214G>A" "r.(?)" "p.(Gly72Arg)" "3"
"0000768637" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000768638" "00001847" "70" "4363" "0" "4363" "0" "c.4363T>C" "r.(?)" "p.(Cys1455Arg)" "30"
"0000768639" "00001847" "70" "6320" "0" "6320" "0" "c.6320G>C" "r.(?)" "p.(Arg2107Pro)" "46"
"0000768640" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000768641" "00001847" "90" "2521" "0" "2521" "0" "c.2521C>T" "r.(?)" "p.(Gln841*)" "16"
"0000768642" "00001847" "90" "3056" "0" "3056" "0" "c.3056C>T" "r.(?)" "p.(Thr1019Met)" "21"
"0000768643" "00001847" "70" "4773" "3" "4773" "3" "c.4773+3A>G" "r.[4668_4773del,=]" "p.[Tyr1557Alafs*18,=]" "33i"
"0000768644" "00001847" "90" "2564" "0" "2564" "0" "c.2564G>A" "r.(?)" "p.(Trp855*)" "16"
"0000768645" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000768646" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000768647" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000768648" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.[(768g>u;768_769ins768+1_768+35)]" "p.(Leu257Valfs*17)" "6"
"0000768649" "00001847" "70" "2915" "0" "2915" "0" "c.2915C>A" "r.(?)" "p.(Thr972Asn)" "19"
"0000768650" "00001847" "50" "868" "0" "868" "0" "c.868C>T" "r.(?)" "p.(Arg290Trp)" "8"
"0000768651" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000768652" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000768653" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000768654" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.[(768g>u;768_769ins768+1_768+35)]" "p.(Leu257Valfs*17)" "6"
"0000768655" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000768656" "00001847" "70" "1933" "0" "1933" "0" "c.1933G>T" "r.(?)" "p.(Asp645Tyr)" "13"
"0000768657" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000768658" "00001847" "70" "286" "0" "286" "0" "c.286A>G" "r.(?)" "p.(Asn96Asp)" "3"
"0000768659" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.[(768g>u;768_769ins768+1_768+35)]" "p.(Leu257Valfs*17)" "6"
"0000768660" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000768661" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000768662" "00001847" "50" "1654" "0" "1654" "0" "c.1654G>A" "r.(?)" "p.(Val552Ile)" "12"
"0000768663" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.[(768g>u;768_769ins768+1_768+35)]" "p.(Leu257Valfs*17)" "6"
"0000768664" "00001847" "90" "319" "0" "319" "0" "c.319C>T" "r.(?)" "p.(Arg107*)" "4"
"0000768665" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.[(768g>u;768_769ins768+1_768+35)]" "p.(Leu257Valfs*17)" "6"
"0000768666" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000768667" "00001847" "90" "4773" "1" "4773" "1" "c.4773+1G>A" "r.spl" "p.?" "33i"
"0000768668" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000768669" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000768670" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.[(768g>u;768_769ins768+1_768+35)]" "p.(Leu257Valfs*17)" "6"
"0000768671" "00001847" "70" "1007" "0" "1007" "0" "c.1007C>G" "r.(?)" "p.(Ser336Cys)" "8"
"0000768672" "00001847" "90" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973*)" "43"
"0000768673" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.[(768g>u;768_769ins768+1_768+35)]" "p.(Leu257Valfs*17)" "6"
"0000768674" "00001847" "90" "3259" "0" "3259" "0" "c.3259G>A" "r.(?)" "p.(Glu1087Lys)" "22"
"0000768675" "00001847" "70" "6229" "0" "6229" "0" "c.6229C>T" "r.(?)" "p.(Arg2077Trp)" "45"
"0000768676" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.[(768g>u;768_769ins768+1_768+35)]" "p.(Leu257Valfs*17)" "6"
"0000768677" "00001847" "70" "5318" "0" "5318" "0" "c.5318C>T" "r.(?)" "p.(Ala1773Val)" "38"
"0000768678" "00001847" "70" "5318" "0" "5318" "0" "c.5318C>T" "r.(?)" "p.(Ala1773Val)" "38"
"0000768679" "00001847" "70" "5318" "0" "5318" "0" "c.5318C>T" "r.(?)" "p.(Ala1773Val)" "38"
"0000768680" "00001847" "70" "5318" "0" "5318" "0" "c.5318C>T" "r.(?)" "p.(Ala1773Val)" "38"
"0000768681" "00001847" "70" "5318" "0" "5318" "0" "c.5318C>T" "r.(?)" "p.(Ala1773Val)" "38"
"0000768682" "00001847" "70" "5318" "0" "5318" "0" "c.5318C>T" "r.(?)" "p.(Ala1773Val)" "38"
"0000768683" "00001847" "70" "5318" "0" "5318" "0" "c.5318C>T" "r.(?)" "p.(Ala1773Val)" "38"
"0000768684" "00001847" "70" "5318" "0" "5318" "0" "c.5318C>T" "r.(?)" "p.(Ala1773Val)" "38"
"0000768685" "00001847" "70" "5318" "0" "5318" "0" "c.5318C>T" "r.(?)" "p.(Ala1773Val)" "38"
"0000768686" "00001847" "70" "5318" "0" "5318" "0" "c.5318C>T" "r.(?)" "p.(Ala1773Val)" "38"
"0000768687" "00001847" "90" "4845" "0" "4845" "0" "c.4845del" "r.(?)" "p.(Lys1616Argfs*46)" "34"
"0000768688" "00001847" "90" "4845" "0" "4845" "0" "c.4845del" "r.(?)" "p.(Lys1616Argfs*46)" "34"
"0000768689" "00001847" "90" "4845" "0" "4845" "0" "c.4845del" "r.(?)" "p.(Lys1616Argfs*46)" "34"
"0000768690" "00001847" "90" "319" "0" "319" "0" "c.319C>T" "r.(?)" "p.(Arg107*)" "4"
"0000768691" "00001847" "90" "247" "0" "250" "0" "c.247_250dup" "r.(?)" "p.(Ser84Thrfs*16)" "3"
"0000768692" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000768693" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000768694" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000768695" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000768696" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000768697" "00001847" "50" "455" "0" "455" "0" "c.455G>A" "r.(?)" "p.(Arg152Gln)" "5"
"0000768698" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000768699" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000768700" "00001847" "90" "4537" "0" "4537" "0" "c.4537dup" "r.(?)" "p.(Gln1513Profs*42)" "30"
"0000768701" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000768702" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000768703" "00001847" "90" "735" "0" "735" "0" "c.735T>G" "r.(?)" "p.(Tyr245*)" "6"
"0000768704" "00001847" "70" "286" "0" "286" "0" "c.286A>G" "r.(?)" "p.(Asn96Asp)" "3"
"0000768705" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000768722" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000768723" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000768724" "00001847" "70" "214" "0" "214" "0" "c.214G>A" "r.(?)" "p.(Gly72Arg)" "3"
"0000768725" "00001847" "70" "214" "0" "214" "0" "c.214G>A" "r.(?)" "p.(Gly72Arg)" "3"
"0000768726" "00001847" "90" "216" "0" "216" "0" "c.216dup" "r.(?)" "p.(Ile73Aspfs*26)" "3"
"0000768727" "00001847" "70" "5380" "0" "5380" "0" "c.5380G>C" "r.(?)" "p.(Ala1794Pro)" "38"
"0000768728" "00001847" "70" "6229" "0" "6229" "0" "c.6229C>T" "r.(?)" "p.(Arg2077Trp)" "45"
"0000768729" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000768730" "00001847" "70" "3272" "0" "3272" "0" "c.3272G>A" "r.(?)" "p.(Gly1091Glu)" "22"
"0000768731" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000768732" "00001847" "90" "1099" "1" "1099" "1" "c.1099+1G>C" "r.spl" "p.?" "8i"
"0000768733" "00001847" "70" "4069" "0" "4069" "0" "c.4069G>A" "r.(?)" "p.(Ala1357Thr)" "27"
"0000768734" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000768735" "00001847" "90" "1957" "0" "1957" "0" "c.1957C>T" "r.(?)" "p.(Arg653Cys)" "14"
"0000768736" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000768737" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000768738" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000768739" "00001847" "70" "5318" "0" "5318" "0" "c.5318C>T" "r.(?)" "p.(Ala1773Val)" "38"
"0000768740" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000768741" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000768742" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000768743" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000768744" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000768745" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000768746" "00001847" "70" "3050" "5" "3050" "5" "c.3050+5G>A" "r.2919_3050del" "p.(Leu973_His1017delinsPhe)" "20i"
"0000768747" "00001847" "90" "3898" "0" "3898" "0" "c.3898C>T" "r.(?)" "p.(Arg1300*)" "27"
"0000768748" "00001847" "50" "5395" "0" "5395" "0" "c.5395A>G" "r.(?)" "p.(Asn1799Asp)" "38"
"0000768749" "00001847" "90" "6316" "0" "6316" "0" "c.6316C>T" "r.(?)" "p.(Arg2106Cys)" "46"
"0000768750" "00001847" "70" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" "31"
"0000768751" "00001847" "70" "6229" "0" "6229" "0" "c.6229C>G" "r.(?)" "p.(Arg2077Gly)" "45"
"0000768752" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000768753" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000768754" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000768755" "00001847" "70" "5243" "0" "5243" "0" "c.5243G>A" "r.(?)" "p.(Gly1748Glu)" "37"
"0000768756" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000768757" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000768758" "00001847" "90" "2966" "0" "2966" "0" "c.2966T>C" "r.(?)" "p.(Val989Ala)" "20"
"0000768759" "00001847" "70" "161" "0" "161" "0" "c.161G>A" "r.[161_302del,161g>a]" "p.[Cys54Serfs*14,Cys54Tyr]" "3"
"0000768760" "00001847" "70" "161" "0" "161" "0" "c.161G>A" "r.[161_302del,161g>a]" "p.[Cys54Serfs*14,Cys54Tyr]" "3"
"0000768761" "00001847" "90" "247" "0" "250" "0" "c.247_250dup" "r.(?)" "p.(Ser84Thrfs*16)" "3"
"0000768762" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.[(768g>u;768_769ins768+1_768+35)]" "p.(Leu257Valfs*17)" "6"
"0000768763" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.[(768g>u;768_769ins768+1_768+35)]" "p.(Leu257Valfs*17)" "6"
"0000768764" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000768765" "00001847" "90" "1819" "0" "1819" "0" "c.1819G>A" "r.(?)" "p.(Gly607Arg)" "13"
"0000768766" "00001847" "90" "1819" "0" "1819" "0" "c.1819G>A" "r.(?)" "p.(Gly607Arg)" "13"
"0000768767" "00001847" "70" "4253" "43" "4253" "43" "c.4253+43G>A" "r.[=,4129_4253del]" "p.[=,Ile1377Hisfs*3]" "28i"
"0000768768" "00001847" "90" "3470" "0" "3470" "0" "c.3470T>G" "r.(?)" "p.(Leu1157*)" "23"
"0000768769" "00001847" "90" "3814" "-2" "3814" "-2" "c.3814-2A>G" "r.spl" "p.?" "25i"
"0000768770" "00001847" "90" "3898" "0" "3898" "0" "c.3898C>T" "r.(?)" "p.(Arg1300*)" "27"
"0000768771" "00001847" "50" "4248" "0" "4248" "0" "c.4248C>A" "r.(?)" "p.(Phe1416Leu)" "28"
"0000768772" "00001847" "90" "4539" "1" "4539" "1" "c.4539+1G>T" "r.spl" "p.?" "30i"
"0000768773" "00001847" "30" "4539" "1729" "4539" "1729" "c.4539+1729G>T" "r.=" "p.(=)" "30i"
"0000768774" "00001847" "70" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" "35"
"0000768775" "00001847" "90" "5312" "2" "5312" "2" "c.5312+2T>G" "r.spl" "p.?" "37i"
"0000768776" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000768777" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000768778" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000768779" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000768780" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000768781" "00001847" "70" "5914" "0" "5914" "0" "c.5914G>A" "r.(?)" "p.(Gly1972Arg)" "43"
"0000768782" "00001847" "70" "70" "0" "70" "0" "c.70C>T" "r.(?)" "p.[IIe23IIefs*30,=]" "2"
"0000768783" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000768784" "00001847" "70" "6545" "0" "6580" "0" "c.6545_6580del" "r.(?)" "p.(Leu2182_Phe2193del)" "48"
"0000768785" "00001847" "70" "4253" "43" "4253" "43" "c.4253+43G>A" "r.[=,4129_4253del]" "p.[=,Ile1377Hisfs*3]" "28i"
"0000768786" "00001847" "70" "4253" "43" "4253" "43" "c.4253+43G>A" "r.[=,4129_4253del]" "p.[=,Ile1377Hisfs*3]" "28i"
"0000768787" "00001847" "70" "4253" "43" "4253" "43" "c.4253+43G>A" "r.[=,4129_4253del]" "p.[=,Ile1377Hisfs*3]" "28i"
"0000768788" "00001847" "70" "1726" "0" "1726" "0" "c.1726G>C" "r.(?)" "p.(Asp576His)" "12"
"0000768789" "00001847" "90" "3056" "0" "3056" "0" "c.3056C>T" "r.(?)" "p.(Thr1019Met)" "21"
"0000768790" "00001847" "70" "3413" "0" "3413" "0" "c.3413T>A" "r.(?)" "p.(Leu1138His)" "23"
"0000768791" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000768792" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000768793" "00001847" "70" "227" "0" "227" "0" "c.227A>C" "r.(?)" "p.(Asn76Thr)" "3"
"0000768794" "00001847" "70" "2092" "0" "2092" "0" "c.2092T>C" "r.(?)" "p.(Cys698Arg)" "14"
"0000768795" "00001847" "70" "52" "0" "52" "0" "c.52C>T" "r.(?)" "p.(Arg18Trp)" "1"
"0000768796" "00001847" "90" "4352" "1" "4352" "1" "c.4352+1G>A" "r.spl" "p.?" "29i"
"0000768797" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000768798" "00001847" "90" "5714" "1" "5714" "1" "c.5714+1G>C" "r.spl?" "p.(?)" "40i"
"0000768799" "00001847" "90" "5714" "1" "5714" "1" "c.5714+1G>C" "r.spl?" "p.(?)" "40i"
"0000768800" "00001847" "90" "2019" "0" "2031" "0" "c.2019_2031del" "r.(?)" "p.(Ser673Argfs*6)" "14"
"0000768801" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000768802" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000768803" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000768804" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000768805" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000768806" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000768807" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000768808" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000768809" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000768810" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000768811" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000768812" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000768813" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000768814" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000768815" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000768816" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000768817" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000768818" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000768819" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000768820" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000768821" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000768822" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000768823" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000768824" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000768825" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000768826" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000768827" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000768828" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000768829" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000768830" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000768831" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000768832" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000768833" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000768834" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000768835" "00001847" "50" "1140" "0" "1140" "0" "c.1140T>A" "r.(?)" "p.(Asn380Lys)" "9"
"0000768836" "00001847" "70" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" "35"
"0000768837" "00001847" "90" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973*)" "43"
"0000768838" "00001847" "90" "571" "-2" "571" "-2" "c.571-2A>T" "r.spl" "p.?" "5i"
"0000768839" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000768840" "00001847" "70" "52" "0" "52" "0" "c.52C>T" "r.(?)" "p.(Arg18Trp)" "1"
"0000768841" "00001847" "90" "5714" "1" "5714" "1" "c.5714+1G>C" "r.spl?" "p.(?)" "40i"
"0000768842" "00001847" "50" "658" "0" "658" "0" "c.658C>T" "r.(?)" "p.(Arg220Cys)" "6"
"0000768843" "00001847" "70" "3364" "0" "3364" "0" "c.3364G>A" "r.(?)" "p.(Glu1122Lys)" "23"
"0000768844" "00001847" "90" "2385" "0" "2400" "0" "c.2385_2400del" "r.(?)" "p.(Ser795Argfs*43)" "16"
"0000768845" "00001847" "90" "1819" "0" "1819" "0" "c.1819G>A" "r.(?)" "p.(Gly607Arg)" "13"
"0000768846" "00001847" "70" "1267" "0" "1267" "0" "c.1267C>T" "r.(?)" "p.(His423Tyr)" "10"
"0000768847" "00001847" "90" "1957" "0" "1957" "0" "c.1957C>T" "r.(?)" "p.(Arg653Cys)" "14"
"0000768848" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000768849" "00001847" "70" "4363" "0" "4363" "0" "c.4363T>C" "r.(?)" "p.(Cys1455Arg)" "30"
"0000768850" "00001847" "90" "4540" "-2" "4540" "-2" "c.4540-2A>G" "r.spl" "p.?" "30i"
"0000768851" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000768852" "00001847" "90" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.(Met1Val)" "1"
"0000768853" "00001847" "50" "3758" "0" "3758" "0" "c.3758C>T" "r.(?)" "p.(Thr1253Met)" "25"
"0000768854" "00001847" "90" "2966" "0" "2966" "0" "c.2966T>C" "r.(?)" "p.(Val989Ala)" "20"
"0000768855" "00001847" "70" "2915" "0" "2915" "0" "c.2915C>A" "r.(?)" "p.(Thr972Asn)" "19"
"0000768856" "00001847" "70" "2453" "0" "2453" "0" "c.2453G>A" "r.(?)" "p.(Gly818Glu)" "16"
"0000768857" "00001847" "70" "1927" "0" "1927" "0" "c.1927G>A" "r.(?)" "p.(Val643Met)" "13"
"0000768858" "00001847" "50" "2546" "0" "2546" "0" "c.2546T>C" "r.(?)" "p.(Val849Ala)" "16"
"0000768859" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000768860" "00001847" "90" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.(Met1Val)" "1"
"0000768861" "00001847" "90" "2971" "0" "2971" "0" "c.2971G>C" "r.(?)" "p.(Gly991Arg)" "20"
"0000768862" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000768863" "00001847" "90" "16" "0" "16" "0" "c.16C>T" "r.(?)" "p.(Gln6*)" "1"
"0000768864" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000768865" "00001847" "50" "2608" "0" "2608" "0" "c.2608C>T" "r.(?)" "p.(Pro870Ser)" "17"
"0000768866" "00001847" "70" "283" "0" "283" "0" "c.283T>C" "r.(?)" "p.(Ser95Pro)" "3"
"0000768867" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000768868" "00001847" "90" "454" "0" "454" "0" "c.454C>T" "r.(?)" "p.(Arg152*)" "5"
"0000768869" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000768870" "00001847" "90" "4234" "0" "4234" "0" "c.4234C>T" "r.(?)" "p.(Gln1412*)" "28"
"0000768871" "00001847" "90" "2966" "0" "2966" "0" "c.2966T>C" "r.(?)" "p.(Val989Ala)" "20"
"0000768872" "00001847" "90" "2977" "0" "2984" "0" "c.2977_2984del" "r.(?)" "p.(Asp993Asnfs*27)" "20"
"0000768873" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000768874" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000768875" "00001847" "70" "859" "-9" "859" "-9" "c.859-9T>C" "r.[=,859_1356del]" "p.[=,Phe287_Arg452del]" "7i"
"0000768876" "00001847" "90" "302" "1" "302" "1" "c.302+1G>A" "r.spl" "p.?" "3i"
"0000768877" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000768878" "00001847" "70" "4231" "0" "4231" "0" "c.4231G>A" "r.(?)" "p.(Gly1411Arg)" "28"
"0000768879" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.[(768g>u;768_769ins768+1_768+35)]" "p.(Leu257Valfs*17)" "6"
"0000768880" "00001847" "70" "1574" "0" "1574" "0" "c.1574T>C" "r.(?)" "p.(Phe525Ser)" "12"
"0000768881" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000768882" "00001847" "90" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.(Met1Val)" "1"
"0000768883" "00001847" "50" "3758" "0" "3758" "0" "c.3758C>T" "r.(?)" "p.(Thr1253Met)" "25"
"0000768884" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000768885" "00001847" "50" "5018" "8" "5018" "8" "c.5018+8A>G" "r.(?)" "p.(?)" "35i"
"0000768886" "00001847" "90" "1819" "0" "1819" "0" "c.1819G>A" "r.(?)" "p.(Gly607Arg)" "13"
"0000768887" "00001847" "90" "1937" "1" "1937" "1" "c.1937+1G>A" "r.spl" "p.?" "13i"
"0000768888" "00001847" "50" "3758" "0" "3758" "0" "c.3758C>T" "r.(?)" "p.(Thr1253Met)" "25"
"0000768889" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000768890" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000768891" "00001847" "70" "194" "0" "194" "0" "c.194G>A" "r.(?)" "p.(Gly65Glu)" "3"
"0000768892" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000768893" "00001847" "70" "161" "0" "161" "0" "c.161G>A" "r.[161_302del,161g>a]" "p.[Cys54Serfs*14,Cys54Tyr]" "3"
"0000768894" "00001847" "50" "2401" "0" "2401" "0" "c.2401G>A" "r.(?)" "p.(Ala801Thr)" "16"
"0000768895" "00001847" "70" "618" "0" "618" "0" "c.618C>G" "r.(?)" "p.(Ser206Arg)" "6"
"0000768896" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000768897" "00001847" "90" "2041" "0" "2041" "0" "c.2041C>T" "r.(?)" "p.(Arg681*)" "14"
"0000768898" "00001847" "70" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" "31"
"0000768899" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000768900" "00001847" "10" "3899" "0" "3899" "0" "c.3899G>A" "r.(?)" "p.(Arg1300Gln)" "27"
"0000768901" "00001847" "70" "2868" "0" "2868" "0" "c.2868C>A" "r.(?)" "p.(Asn956Lys)" "19"
"0000768902" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000768903" "00001847" "90" "5961" "0" "5964" "0" "c.5961_5964del" "r.(?)" "p.(Asp1988Profs*3)" "43"
"0000768904" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000768905" "00001847" "70" "6077" "0" "6077" "0" "c.6077T>C" "r.(?)" "p.(Leu2026Pro)" "44"
"0000768906" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000768907" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000768908" "00001847" "90" "4537" "0" "4537" "0" "c.4537dup" "r.(?)" "p.(Gln1513Profs*42)" "30"
"0000768909" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000768910" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000768911" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000768912" "00001847" "90" "4352" "1" "4352" "1" "c.4352+1G>T" "r.(?)" "p.(?)" "29i"
"0000768913" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000768914" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000768915" "00001847" "90" "1819" "0" "1819" "0" "c.1819G>A" "r.(?)" "p.(Gly607Arg)" "13"
"0000768916" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000768917" "00001847" "90" "4720" "0" "4720" "0" "c.4720G>T" "r.(?)" "p.(Glu1574*)" "33"
"0000768918" "00001847" "90" "2564" "0" "2564" "0" "c.2564G>A" "r.(?)" "p.(Trp855*)" "16"
"0000768919" "00001847" "70" "4919" "0" "4919" "0" "c.4919G>A" "r.(?)" "p.(Arg1640Gln)" "35"
"0000768920" "00001847" "90" "2560" "0" "2560" "0" "c.2560dup" "r.(?)" "p.(Ala854Glyfs*5)" "16"
"0000768921" "00001847" "50" "1566" "0" "1566" "0" "c.1566G>A" "r.(?)" "p.(Leu522=)" "12"
"0000768922" "00001847" "50" "423" "0" "423" "0" "c.423T>A" "r.(?)" "p.(Thr141=)" "4"
"0000768923" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000768924" "00001847" "90" "5018" "2" "5018" "2" "c.5018+2T>C" "r.spl" "p.?" "35i"
"0000768925" "00001847" "70" "2948" "0" "2948" "0" "c.2948C>T" "r.(?)" "p.(Thr983Ile)" "20"
"0000768926" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000768927" "00001847" "50" "5585" "-10" "5585" "-10" "c.5585-10T>C" "r.=" "p.(=)" "39i"
"0000768928" "00001847" "90" "4537" "0" "4537" "0" "c.4537dup" "r.(?)" "p.(Gln1513Profs*42)" "30"
"0000768929" "00001847" "70" "3064" "0" "3064" "0" "c.3064G>A" "r.(?)" "p.(Glu1022Lys)" "21"
"0000768930" "00001847" "90" "2041" "0" "2041" "0" "c.2041C>T" "r.(?)" "p.(Arg681*)" "14"
"0000768931" "00001847" "70" "1019" "0" "1019" "0" "c.1019A>G" "r.(?)" "p.(Tyr340Cys)" "8"
"0000768932" "00001847" "90" "4537" "0" "4537" "0" "c.4537dup" "r.(?)" "p.(Gln1513Profs*42)" "30"
"0000768933" "00001847" "70" "872" "0" "872" "0" "c.872C>T" "r.(?)" "p.(Pro291Leu)" "8"
"0000768934" "00001847" "70" "1201" "0" "1201" "0" "c.1201A>C" "r.(?)" "p.(Thr401Pro)" "9"
"0000768935" "00001847" "90" "885" "0" "885" "0" "c.885del" "r.(?)" "p.(Leu296Cysfs*4)" "8"
"0000768936" "00001847" "90" "5018" "2" "5018" "2" "c.5018+2T>C" "r.spl" "p.?" "35i"
"0000768937" "00001847" "70" "4222" "0" "4222" "0" "c.4222T>C" "r.(?)" "p.(Trp1408Arg)" "28"
"0000768938" "00001847" "90" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071Cysfs*14)" "22"
"0000768939" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000768940" "00001847" "70" "4462" "0" "4462" "0" "c.4462T>C" "r.(?)" "p.(Cys1488Arg)" "30"
"0000768941" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000768942" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000768943" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000768944" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000768945" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000768946" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000768947" "00001847" "70" "3311" "0" "3311" "0" "c.3311T>C" "r.(?)" "p.(Leu1104Pro)" "22"
"0000768948" "00001847" "50" "868" "0" "868" "0" "c.868C>T" "r.(?)" "p.(Arg290Trp)" "8"
"0000768949" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000768950" "00001847" "70" "286" "0" "286" "0" "c.286A>G" "r.(?)" "p.(Asn96Asp)" "3"
"0000768951" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000768952" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000768953" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000768954" "00001847" "50" "5693" "0" "5693" "0" "c.5693G>A" "r.(?)" "p.(Arg1898His)" "40"
"0000768955" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000768956" "00001847" "50" "4926" "0" "4926" "0" "c.4926C>G" "r.(?)" "p.(Ser1642Arg)" "35"
"0000768957" "00001847" "90" "1317" "0" "1317" "0" "c.1317G>A" "r.(?)" "p.(Trp439*)" "10"
"0000768958" "00001847" "90" "180" "0" "180" "0" "c.180del" "r.(?)" "p.(Met61Cysfs*17)" "3"
"0000768959" "00001847" "50" "4926" "0" "4926" "0" "c.4926C>G" "r.(?)" "p.(Ser1642Arg)" "35"
"0000768960" "00001847" "90" "3191" "-1" "3191" "-1" "c.3191-1G>T" "r.spl" "p.?" "21i"
"0000768961" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000768962" "00001847" "70" "2942" "0" "2942" "0" "c.2942C>T" "r.(?)" "p.(Phe981Leu)" "20"
"0000768963" "00001847" "70" "2861" "0" "2861" "0" "c.2861A>C" "r.(?)" "p.(Tyr954Ser)" "19"
"0000768964" "00001847" "50" "466" "0" "466" "0" "c.466A>G" "r.(?)" "p.(Ile156Val)" "5"
"0000768965" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000768966" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000768967" "00001847" "90" "1957" "0" "1957" "0" "c.1957C>T" "r.(?)" "p.(Arg653Cys)" "14"
"0000768968" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000768969" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000768970" "00001847" "90" "1957" "0" "1957" "0" "c.1957C>T" "r.(?)" "p.(Arg653Cys)" "14"
"0000768971" "00001847" "70" "1757" "0" "1757" "0" "c.1757A>G" "r.(?)" "p.(Asp586Gly)" "12"
"0000768972" "00001847" "70" "4222" "0" "4222" "0" "c.4222T>C" "r.(?)" "p.(Trp1408Arg)" "28"
"0000768973" "00001847" "70" "1726" "0" "1726" "0" "c.1726G>C" "r.(?)" "p.(Asp576His)" "12"
"0000768974" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000768975" "00001847" "70" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" "44"
"0000768976" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000768977" "00001847" "50" "658" "0" "658" "0" "c.658C>T" "r.(?)" "p.(Arg220Cys)" "6"
"0000768978" "00001847" "70" "872" "0" "872" "0" "c.872C>T" "r.(?)" "p.(Pro291Leu)" "8"
"0000768979" "00001847" "70" "1531" "0" "1531" "0" "c.1531C>T" "r.(?)" "p.(Arg511Cys)" "11"
"0000768980" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000768981" "00001847" "50" "1411" "0" "1411" "0" "c.1411G>A" "r.(?)" "p.(Glu471Lys)" "11"
"0000768982" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000768983" "00001847" "70" "161" "0" "161" "0" "c.161G>A" "r.[161_302del,161g>a]" "p.[Cys54Serfs*14,Cys54Tyr]" "3"
"0000768984" "00001847" "70" "3323" "0" "3323" "0" "c.3323G>A" "r.(?)" "p.(Arg1108His)" "22"
"0000768985" "00001847" "90" "1906" "0" "1906" "0" "c.1906C>T" "r.(?)" "p.(Gln636*)" "13"
"0000768986" "00001847" "70" "1922" "0" "1922" "0" "c.1922G>C" "r.(?)" "p.(Cys641Ser)" "13"
"0000768987" "00001847" "70" "4552" "0" "4552" "0" "c.4552A>C" "r.(?)" "p.(Ser1518Arg)" "31"
"0000768988" "00001847" "70" "3323" "0" "3323" "0" "c.3323G>A" "r.(?)" "p.(Arg1108His)" "22"
"0000768989" "00001847" "90" "1760" "0" "1760" "0" "c.1760G>A" "r.(?)" "p.(Arg587Lys,?)" "12"
"0000768990" "00001847" "90" "5018" "2" "5018" "2" "c.5018+2T>C" "r.spl" "p.?" "35i"
"0000768991" "00001847" "90" "1906" "0" "1906" "0" "c.1906C>T" "r.(?)" "p.(Gln636*)" "13"
"0000768992" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000768993" "00001847" "90" "2966" "0" "2966" "0" "c.2966T>C" "r.(?)" "p.(Val989Ala)" "20"
"0000768994" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000768995" "00001847" "70" "3364" "0" "3364" "0" "c.3364G>A" "r.(?)" "p.(Glu1122Lys)" "23"
"0000768996" "00001847" "90" "21" "0" "21" "0" "c.21dup" "r.(?)" "p.(Gln8Hisfs*33)" "1"
"0000768997" "00001847" "50" "4739" "0" "4739" "0" "c.4739T>C" "r.(?)" "p.(Leu1580Ser)" "33"
"0000768998" "00001847" "90" "303" "-2" "303" "-2" "c.303-2A>G" "r.spl" "p.?" "3i"
"0000768999" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000769000" "00001847" "90" "4537" "0" "4537" "0" "c.4537dup" "r.(?)" "p.(Gln1513Profs*42)" "30"
"0000769001" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000769002" "00001847" "90" "1317" "0" "1317" "0" "c.1317G>A" "r.(?)" "p.(Trp439*)" "10"
"0000769003" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000769004" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000769005" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000769006" "00001847" "70" "2453" "0" "2453" "0" "c.2453G>A" "r.(?)" "p.(Gly818Glu)" "16"
"0000769007" "00001847" "70" "4253" "4" "4253" "4" "c.4253+4C>T" "r.4129_4253del" "p.(Ile1377Hisfs*3)" "28i"
"0000769008" "00001847" "90" "3292" "0" "3292" "0" "c.3292C>T" "r.(?)" "p.(Arg1098Cys)" "22"
"0000769009" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000769010" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000769011" "00001847" "90" "5898" "1" "5898" "1" "c.5898+1G>A" "r.spl" "p.?" "42i"
"0000769012" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000769013" "00001847" "90" "5196" "1" "5196" "1" "c.5196+1G>A" "r.spl" "p.?" "36i"
"0000769014" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000769015" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000769016" "00001847" "70" "3224" "0" "3224" "0" "c.3224C>A" "r.(?)" "p.(Ala1075Asp)" "22"
"0000769017" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000769018" "00001847" "90" "655" "0" "655" "0" "c.655A>T" "r.(?)" "p.(Arg219*)" "6"
"0000769019" "00001847" "90" "2160" "2" "2160" "2" "c.2160+2T>G" "r.spl" "p.?" "14i"
"0000769020" "00001847" "70" "6729" "5" "6729" "19" "c.6729+5_6729+19del" "r.6480_6729del" "p.(Phe2161Cysfs*3)" "48i"
"0000769021" "00001847" "90" "834" "0" "834" "0" "c.834del" "r.(?)" "p.(Asp279Ilefs*21)" "7"
"0000769022" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000769023" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000769024" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000769025" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000769026" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000769027" "00001847" "70" "6729" "5" "6729" "19" "c.6729+5_6729+19del" "r.6480_6729del" "p.(Phe2161Cysfs*3)" "48i"
"0000769028" "00001847" "70" "3481" "0" "3481" "0" "c.3481C>T" "r.(?)" "p.(Arg1161Cys)" "23"
"0000769029" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000769030" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000769031" "00001847" "70" "2912" "0" "2912" "0" "c.2912C>A" "r.(?)" "p.(Thr971Asn)" "19"
"0000769032" "00001847" "70" "859" "-9" "859" "-9" "c.859-9T>C" "r.[=,859_1356del]" "p.[=,Phe287_Arg452del]" "7i"
"0000769033" "00001847" "90" "6712" "0" "6712" "0" "c.6712C>T" "r.(?)" "p.(Gln2238*)" "48"
"0000769034" "00001847" "90" "6286" "0" "6286" "0" "c.6286G>A" "r.(?)" "p.(Glu2096Lys)" "46"
"0000769035" "00001847" "70" "1267" "0" "1267" "0" "c.1267C>T" "r.(?)" "p.(His423Tyr)" "10"
"0000769036" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000769037" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000769038" "00001847" "90" "1317" "0" "1317" "0" "c.1317G>A" "r.(?)" "p.(Trp439*)" "10"
"0000769039" "00001847" "70" "3364" "0" "3364" "0" "c.3364G>A" "r.(?)" "p.(Glu1122Lys)" "23"
"0000769040" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000769041" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000769042" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000769043" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000769044" "00001847" "70" "1648" "0" "1648" "0" "c.1648G>A" "r.(?)" "p.(Gly550Arg)" "12"
"0000769045" "00001847" "70" "1574" "0" "1574" "0" "c.1574T>C" "r.(?)" "p.(Phe525Ser)" "12"
"0000769046" "00001847" "90" "161" "-1" "161" "-1" "c.161-1G>A" "r.spl" "p.?" "2i"
"0000769047" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000769048" "00001847" "70" "183" "0" "183" "0" "c.183G>C" "r.(?)" "p.(Met61Ile)" "3"
"0000769049" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000769050" "00001847" "90" "4663" "0" "4664" "0" "c.4663_4664del" "r.(?)" "p.(Gln1555Glufs*41)" "32"
"0000769051" "00001847" "90" "571" "-1" "571" "-1" "c.571-1G>T" "r.spl" "p.?" "5i"
"0000769052" "00001847" "70" "3703" "0" "3703" "0" "c.3703A>G" "r.(?)" "p.(Asn1235Asp)" "25"
"0000769053" "00001847" "70" "5137" "0" "5137" "0" "c.5137C>A" "r.(?)" "p.(Gln1713Lys)" "36"
"0000769054" "00001847" "90" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071Cysfs*14)" "22"
"0000769055" "00001847" "70" "1648" "0" "1648" "0" "c.1648G>A" "r.(?)" "p.(Gly550Arg)" "12"
"0000769056" "00001847" "70" "5288" "0" "5288" "0" "c.5288T>C" "r.(?)" "p.(Leu1763Pro)" "37"
"0000769057" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000769058" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000769059" "00001847" "90" "2966" "0" "2966" "0" "c.2966T>C" "r.(?)" "p.(Val989Ala)" "20"
"0000769060" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000769061" "00001847" "70" "1034" "0" "1034" "0" "c.1034A>G" "r.(?)" "p.(Tyr345Cys)" "8"
"0000769062" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000769063" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000769064" "00001847" "50" "1654" "0" "1654" "0" "c.1654G>A" "r.(?)" "p.(Val552Ile)" "12"
"0000769065" "00001847" "50" "455" "0" "455" "0" "c.455G>A" "r.(?)" "p.(Arg152Gln)" "5"
"0000769066" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000769067" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000769068" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000769069" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000769070" "00001847" "50" "1964" "0" "1964" "0" "c.1964T>G" "r.(?)" "p.(Phe655Cys)" "14"
"0000769071" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000769072" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000769073" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000769074" "00001847" "70" "6112" "0" "6112" "0" "c.6112C>T" "r.(?)" "p.(Arg2038Trp)" "44"
"0000769075" "00001847" "70" "194" "0" "194" "0" "c.194G>A" "r.(?)" "p.(Gly65Glu)" "3"
"0000769076" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000769077" "00001847" "70" "183" "0" "183" "0" "c.183G>C" "r.(?)" "p.(Met61Ile)" "3"
"0000769078" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000769079" "00001847" "90" "571" "-2" "571" "-2" "c.571-2A>T" "r.spl" "p.?" "5i"
"0000769080" "00001847" "70" "4313" "0" "4313" "0" "c.4313C>G" "r.(?)" "p.(Pro1438Arg)" "29"
"0000769081" "00001847" "90" "45" "0" "45" "0" "c.45G>A" "r.(?)" "p.(Trp15*)" "1"
"0000769082" "00001847" "90" "1819" "0" "1819" "0" "c.1819G>A" "r.(?)" "p.(Gly607Arg)" "13"
"0000769083" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000769084" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000769085" "00001847" "90" "2041" "0" "2041" "0" "c.2041C>T" "r.(?)" "p.(Arg681*)" "14"
"0000769086" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000769087" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000769088" "00001847" "50" "2023" "0" "2023" "0" "c.2023G>A" "r.(?)" "p.(Val675Ile)" "14"
"0000769089" "00001847" "50" "6721" "0" "6721" "0" "c.6721C>G" "r.(?)" "p.(Leu2241Val)" "48"
"0000769090" "00001847" "70" "1022" "0" "1022" "0" "c.1022A>G" "r.(?)" "p.(Glu341Gly)" "8"
"0000769091" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000769092" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000769093" "00001847" "50" "2804" "0" "2804" "0" "c.2804T>C" "r.(?)" "p.(Val935Ala)" "19"
"0000769094" "00001847" "70" "4919" "0" "4919" "0" "c.4919G>A" "r.(?)" "p.(Arg1640Gln)" "35"
"0000769095" "00001847" "90" "454" "0" "454" "0" "c.454C>T" "r.(?)" "p.(Arg152*)" "5"
"0000769096" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000769097" "00001847" "70" "3364" "0" "3364" "0" "c.3364G>A" "r.(?)" "p.(Glu1122Lys)" "23"
"0000769098" "00001847" "90" "4537" "0" "4537" "0" "c.4537dup" "r.(?)" "p.(Gln1513Profs*42)" "30"
"0000769099" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.[(768g>u;768_769ins768+1_768+35)]" "p.(Leu257Valfs*17)" "6"
"0000769100" "00001847" "50" "658" "0" "658" "0" "c.658C>T" "r.(?)" "p.(Arg220Cys)" "6"
"0000769101" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000769102" "00001847" "90" "454" "0" "454" "0" "c.454C>T" "r.(?)" "p.(Arg152*)" "5"
"0000769103" "00001847" "70" "2461" "0" "2461" "0" "c.2461T>A" "r.(?)" "p.(Trp821Arg)" "16"
"0000769104" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000769105" "00001847" "70" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" "31"
"0000769106" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.[(768g>u;768_769ins768+1_768+35)]" "p.(Leu257Valfs*17)" "6"
"0000769107" "00001847" "70" "769" "-1" "858" "1" "c.(768+1_769-1)_(858+1_859-1)del" "r.(?)" "p.(?)" "6i_7i"
"0000769108" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000769109" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000769110" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000769111" "00001847" "90" "2564" "0" "2564" "0" "c.2564G>A" "r.(?)" "p.(Trp855*)" "16"
"0000769112" "00001847" "90" "2005" "0" "2006" "0" "c.2005_2006del" "r.(?)" "p.(Met669Aspfs*96)" "14"
"0000769113" "00001847" "70" "4222" "0" "4222" "0" "c.4222T>C" "r.(?)" "p.(Trp1408Arg)" "28"
"0000769114" "00001847" "90" "3056" "0" "3056" "0" "c.3056C>T" "r.(?)" "p.(Thr1019Met)" "21"
"0000769115" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000769116" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000769117" "00001847" "10" "3602" "0" "3602" "0" "c.3602T>G" "r.(?)" "p.(Leu1201Arg)" "24"
"0000769118" "00001847" "90" "2971" "0" "2971" "0" "c.2971G>C" "r.(?)" "p.(Gly991Arg)" "20"
"0000769119" "00001847" "70" "4222" "0" "4222" "0" "c.4222T>C" "r.(?)" "p.(Trp1408Arg)" "28"
"0000769120" "00001847" "70" "1927" "0" "1927" "0" "c.1927G>A" "r.(?)" "p.(Val643Met)" "13"
"0000769121" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000769122" "00001847" "70" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" "31"
"0000769123" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000769124" "00001847" "70" "1015" "0" "1015" "0" "c.1015T>G" "r.(?)" "p.(Trp339Gly)" "8"
"0000769125" "00001847" "70" "1715" "0" "1715" "0" "c.1715G>A" "r.(?)" "p.(Arg572Gln)" "12"
"0000769126" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000769127" "00001847" "70" "4919" "0" "4919" "0" "c.4919G>A" "r.(?)" "p.(Arg1640Gln)" "35"
"0000769128" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000769129" "00001847" "10" "3602" "0" "3602" "0" "c.3602T>G" "r.(?)" "p.(Leu1201Arg)" "24"
"0000769130" "00001847" "50" "5395" "0" "5395" "0" "c.5395A>G" "r.(?)" "p.(Asn1799Asp)" "38"
"0000769131" "00001847" "50" "2819" "0" "2819" "0" "c.2819C>G" "r.(?)" "p.(Pro940Arg)" "19"
"0000769132" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.[(768g>u;768_769ins768+1_768+35)]" "p.(Leu257Valfs*17)" "6"
"0000769133" "00001847" "70" "1529" "0" "1529" "0" "c.1529T>C" "r.(?)" "p.(Leu510Pro)" "11"
"0000769134" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000769135" "00001847" "50" "4771" "0" "4771" "0" "c.4771G>A" "r.(?)" "p.(Gly1591Arg)" "33"
"0000769136" "00001847" "90" "67" "-1" "67" "-1" "c.67-1G>C" "r.spl" "p.?" "1i"
"0000769137" "00001847" "90" "5196" "1" "5196" "1" "c.5196+1G>A" "r.spl" "p.?" "36i"
"0000769138" "00001847" "70" "1610" "0" "1610" "0" "c.1610G>A" "r.(?)" "p.(Arg537His)" "12"
"0000769139" "00001847" "70" "32" "0" "32" "0" "c.32T>C" "r.(?)" "p.(Leu11Pro)" "1"
"0000769140" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.[(768g>u;768_769ins768+1_768+35)]" "p.(Leu257Valfs*17)" "6"
"0000769141" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000769142" "00001847" "70" "4538" "0" "4538" "0" "c.4538A>G" "r.[4539_4540ins4540+1_4530+30,4467_4539del]" "p.(Arg1513_Arg1514ins10,Cys1490Glufs*12)" "30"
"0000769143" "00001847" "70" "1648" "0" "1648" "0" "c.1648G>A" "r.(?)" "p.(Gly550Arg)" "12"
"0000769144" "00001847" "70" "3389" "0" "3389" "0" "c.3389T>C" "r.(?)" "p.(Ile1130Thr)" "23"
"0000769145" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000769146" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000769147" "00001847" "70" "3364" "0" "3364" "0" "c.3364G>A" "r.(?)" "p.(Glu1122Lys)" "23"
"0000769148" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000769149" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000769150" "00001847" "70" "3385" "0" "3385" "0" "c.3385C>T" "r.(?)" "p.(Arg1129Cys)" "23"
"0000769151" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000769152" "00001847" "70" "4253" "4" "4253" "4" "c.4253+4C>T" "r.4129_4253del" "p.(Ile1377Hisfs*3)" "28i"
"0000769153" "00001847" "50" "160" "5" "160" "5" "c.160+5G>A" "r.(?)" "p.(?)" "2i"
"0000769154" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000769155" "00001847" "70" "1529" "0" "1529" "0" "c.1529T>C" "r.(?)" "p.(Leu510Pro)" "11"
"0000769156" "00001847" "70" "2300" "0" "2300" "0" "c.2300T>A" "r.(?)" "p.(Val767Asp)" "15"
"0000769157" "00001847" "90" "45" "0" "45" "0" "c.45G>A" "r.(?)" "p.(Trp15*)" "1"
"0000769158" "00001847" "70" "2915" "0" "2915" "0" "c.2915C>A" "r.(?)" "p.(Thr972Asn)" "19"
"0000769159" "00001847" "70" "4253" "4" "4253" "4" "c.4253+4C>T" "r.4129_4253del" "p.(Ile1377Hisfs*3)" "28i"
"0000769160" "00001847" "70" "3385" "0" "3385" "0" "c.3385C>T" "r.(?)" "p.(Arg1129Cys)" "23"
"0000769161" "00001847" "90" "2564" "0" "2564" "0" "c.2564G>A" "r.(?)" "p.(Trp855*)" "16"
"0000769162" "00001847" "90" "3259" "0" "3259" "0" "c.3259G>A" "r.(?)" "p.(Glu1087Lys)" "22"
"0000769163" "00001847" "70" "4253" "4" "4253" "4" "c.4253+4C>T" "r.4129_4253del" "p.(Ile1377Hisfs*3)" "28i"
"0000769164" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000769165" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000769166" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000769167" "00001847" "50" "868" "0" "868" "0" "c.868C>T" "r.(?)" "p.(Arg290Trp)" "8"
"0000769168" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000769169" "00001847" "50" "5077" "0" "5077" "0" "c.5077G>A" "r.(?)" "p.(Val1693Ile)" "36"
"0000769170" "00001847" "50" "466" "0" "466" "0" "c.466A>G" "r.(?)" "p.(Ile156Val)" "5"
"0000769171" "00001847" "70" "4222" "0" "4222" "0" "c.4222T>C" "r.(?)" "p.(Trp1408Arg)" "28"
"0000769172" "00001847" "90" "4537" "0" "4537" "0" "c.4537dup" "r.(?)" "p.(Gln1513Profs*42)" "30"
"0000769173" "00001847" "70" "3260" "0" "3260" "0" "c.3260A>G" "r.(?)" "p.(Glu1087Gly)" "22"
"0000769174" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000769175" "00001847" "70" "2300" "0" "2300" "0" "c.2300T>A" "r.(?)" "p.(Val767Asp)" "15"
"0000769176" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000769177" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000769178" "00001847" "70" "5114" "0" "5114" "0" "c.5114G>T" "r.(?)" "p.(Arg1705Leu)" "36"
"0000769179" "00001847" "70" "4919" "0" "4919" "0" "c.4919G>A" "r.(?)" "p.(Arg1640Gln)" "35"
"0000769180" "00001847" "90" "1086" "0" "1086" "0" "c.1086T>A" "r.(?)" "p.(Tyr362*)" "8"
"0000769181" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000769182" "00001847" "70" "160" "5" "160" "5" "c.160+5G>C" "r.[67_160del,161_302delins161+1_161+14,=]" "p.[Ile23Alafs∗24,His55Asnfs∗63,=]" "2i"
"0000769183" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000769184" "00001847" "70" "1919" "0" "1919" "0" "c.1919C>T" "r.(?)" "p.(Pro640Leu)" "13"
"0000769185" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000769186" "00001847" "70" "4919" "0" "4919" "0" "c.4919G>A" "r.(?)" "p.(Arg1640Gln)" "35"
"0000769187" "00001847" "70" "1853" "0" "1853" "0" "c.1853G>A" "r.(?)" "p.(Gly618Glu)" "13"
"0000769188" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000769189" "00001847" "70" "1610" "0" "1610" "0" "c.1610G>A" "r.(?)" "p.(Arg537His)" "12"
"0000769190" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.[(768g>u;768_769ins768+1_768+35)]" "p.(Leu257Valfs*17)" "6"
"0000769191" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.[(768g>u;768_769ins768+1_768+35)]" "p.(Leu257Valfs*17)" "6"
"0000769192" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.[(768g>u;768_769ins768+1_768+35)]" "p.(Leu257Valfs*17)" "6"
"0000769193" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.[(768g>u;768_769ins768+1_768+35)]" "p.(Leu257Valfs*17)" "6"
"0000769194" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.[(768g>u;768_769ins768+1_768+35)]" "p.(Leu257Valfs*17)" "6"
"0000769195" "00001847" "70" "1822" "0" "1822" "0" "c.1822T>A" "r.(?)" "p.(Phe608Ile)" "13"
"0000769196" "00001847" "90" "5762" "0" "5763" "0" "c.5762_5763dup" "r.(?)" "p.(Ala1922Trpfs*18)" "41"
"0000769197" "00001847" "90" "5762" "0" "5763" "0" "c.5762_5763dup" "r.(?)" "p.(Ala1922Trpfs*18)" "41"
"0000769198" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000769199" "00001847" "70" "5914" "0" "5914" "0" "c.5914G>A" "r.(?)" "p.(Gly1972Arg)" "43"
"0000769200" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.[(768g>u;768_769ins768+1_768+35)]" "p.(Leu257Valfs*17)" "6"
"0000769201" "00001847" "90" "6155" "0" "6155" "0" "c.6155del" "r.(?)" "p.(Asn2052Thrfs*9)" "45"
"0000769202" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.[(768g>u;768_769ins768+1_768+35)]" "p.(Leu257Valfs*17)" "6"
"0000769203" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000769204" "00001847" "90" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973*)" "43"
"0000769205" "00001847" "70" "1822" "0" "1822" "0" "c.1822T>A" "r.(?)" "p.(Phe608Ile)" "13"
"0000769206" "00001847" "90" "1938" "-1" "1938" "-1" "c.1938-1G>A" "r.spl" "p.?" "13i"
"0000769207" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000769208" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.[(768g>u;768_769ins768+1_768+35)]" "p.(Leu257Valfs*17)" "6"
"0000769209" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000769210" "00001847" "90" "4234" "0" "4234" "0" "c.4234C>T" "r.(?)" "p.(Gln1412*)" "28"
"0000769211" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000769212" "00001847" "70" "983" "0" "983" "0" "c.983A>T" "r.(?)" "p.(Glu328Val)" "8"
"0000769213" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000769214" "00001847" "70" "3035" "0" "3037" "0" "c.3035_3037del" "r.(?)" "p.(Asn1012del)" "20"
"0000769215" "00001847" "50" "2914" "0" "2914" "0" "c.2914A>C" "r.(?)" "p.(Thr972Pro)" "20"
"0000769216" "00001847" "10" "1268" "0" "1268" "0" "c.1268A>G" "r.(?)" "p.(His423Arg)" "10"
"0000769217" "00001847" "10" "1268" "0" "1268" "0" "c.1268A>G" "r.(?)" "p.(His423Arg)" "10"
"0000769218" "00001847" "10" "635" "0" "635" "0" "c.635G>A" "r.(?)" "p.(Arg212His)" "6"
"0000769219" "00001847" "10" "635" "0" "635" "0" "c.635G>A" "r.(?)" "p.(Arg212His)" "6"
"0000769220" "00001847" "70" "560" "0" "560" "0" "c.560G>A" "r.(?)" "p.(Arg187His)" "5"
"0000769221" "00001847" "90" "880" "0" "880" "0" "c.880C>T" "r.(?)" "p.(Gln294*)" "8"
"0000769222" "00001847" "10" "1268" "0" "1268" "0" "c.1268A>G" "r.(?)" "p.(His423Arg)" "10"
"0000769223" "00001847" "90" "880" "0" "880" "0" "c.880C>T" "r.(?)" "p.(Gln294*)" "8"
"0000769224" "00001847" "70" "1958" "0" "1958" "0" "c.1958G>A" "r.(?)" "p.(Arg653His)" "14"
"0000769225" "00001847" "50" "1933" "0" "1933" "0" "c.1933G>A" "r.(?)" "p.(Asp645Asn)" "13"
"0000769226" "00001847" "70" "3035" "0" "3037" "0" "c.3035_3037del" "r.(?)" "p.(Asn1012del)" "20"
"0000769227" "00001847" "10" "1268" "0" "1268" "0" "c.1268A>G" "r.(?)" "p.(His423Arg)" "10"
"0000769228" "00001847" "70" "2384" "0" "2384" "0" "c.2384G>A" "r.spl?" "p.(Ser795Asn)" "15i"
"0000769229" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000769230" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000769231" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000769232" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000769233" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.[(768g>u;768_769ins768+1_768+35)]" "p.(Leu257Valfs*17)" "6"
"0000769234" "00001847" "70" "3050" "5" "3050" "5" "c.3050+5G>A" "r.2919_3050del" "p.(Leu973_His1017delinsPhe)" "20i"
"0000769235" "00001847" "90" "3056" "0" "3056" "0" "c.3056C>T" "r.(?)" "p.(Thr1019Met)" "21"
"0000769236" "00001847" "70" "161" "0" "161" "0" "c.161G>A" "r.[161_302del,161g>a]" "p.[Cys54Serfs*14,Cys54Tyr]" "3"
"0000769237" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000769238" "00001847" "50" "302" "68" "302" "68" "c.302+68C>T" "r.(?)" "p.(?)" "3i"
"0000769239" "00001847" "50" "302" "68" "302" "68" "c.302+68C>T" "r.(?)" "p.(?)" "3i"
"0000769240" "00001847" "90" "6693" "0" "6693" "0" "c.6693del" "r.(?)" "p.(Ile2231Metfs*16)" "48"
"0000769241" "00001847" "90" "2572" "0" "2572" "0" "c.2572dup" "r.(?)" "p.(Asp858Glyfs*27)" "16"
"0000769242" "00001847" "90" "1050" "0" "1050" "0" "c.1050del" "r.(?)" "p.(Ile351Leufs*23)" "8"
"0000769243" "00001847" "90" "6181" "0" "6184" "0" "c.6181_6184del" "r.(?)" "p.(Thr2061Serfs*53)" "45"
"0000769244" "00001847" "70" "1556" "0" "1556" "0" "c.1556G>A" "r.(?)" "p.(Cys519Tyr,?)" "12"
"0000769245" "00001847" "90" "3966" "0" "3966" "0" "c.3966del" "r.(?)" "p.(Ala1324Argfs*65)" "27"
"0000769246" "00001847" "90" "3966" "0" "3966" "0" "c.3966del" "r.(?)" "p.(Ala1324Argfs*65)" "27"
"0000769247" "00001847" "70" "3811" "0" "3811" "0" "c.3811G>C" "r.(?)" "p.(Glu1271Gln)" "25"
"0000769248" "00001847" "50" "4129" "-3" "4129" "-3" "c.4129-3C>A" "r.(?)" "p.(?)" "27i"
"0000769249" "00001847" "70" "1252" "0" "1252" "0" "c.1252T>C" "r.(?)" "p.(Phe418Leu)" "10"
"0000769250" "00001847" "90" "4689" "0" "4689" "0" "c.4689del" "r.(?)" "p.(Gly1564Glufs*17)" "33"
"0000769251" "00001847" "70" "2868" "0" "2868" "0" "c.2868C>A" "r.(?)" "p.(Asn956Lys)" "19"
"0000769252" "00001847" "70" "6191" "0" "6191" "0" "c.6191C>T" "r.(?)" "p.(Ala2064Val)" "45"
"0000769253" "00001847" "70" "53" "0" "53" "0" "c.53G>A" "r.(?)" "p.(Arg18Gln)" "1"
"0000769254" "00001847" "70" "53" "0" "53" "0" "c.53G>A" "r.(?)" "p.(Arg18Gln)" "1"
"0000769255" "00001847" "90" "3682" "0" "3682" "0" "c.3682G>T" "r.(?)" "p.(Glu1228*)" "25"
"0000769256" "00001847" "70" "1706" "0" "1706" "0" "c.1706A>G" "r.(?)" "p.(Tyr569Cys)" "12"
"0000769257" "00001847" "90" "1050" "0" "1050" "0" "c.1050del" "r.(?)" "p.(Ile351Leufs*23)" "8"
"0000769258" "00001847" "70" "3080" "0" "3080" "0" "c.3080A>G" "r.(?)" "p.(Tyr1027Cys)" "21"
"0000769259" "00001847" "70" "6250" "0" "6250" "0" "c.6250G>A" "r.(?)" "p.(Ala2084Thr)" "45"
"0000769260" "00001847" "90" "2572" "0" "2572" "0" "c.2572dup" "r.(?)" "p.(Asp858Glyfs*27)" "16"
"0000769261" "00001847" "70" "1201" "0" "1201" "0" "c.1201A>C" "r.(?)" "p.(Thr401Pro)" "9"
"0000769262" "00001847" "70" "3811" "0" "3811" "0" "c.3811G>C" "r.(?)" "p.(Glu1271Gln)" "25"
"0000769263" "00001847" "90" "972" "0" "973" "0" "c.972_973delinsAT" "r.(?)" "p.(Cys324*)" "8"
"0000769264" "00001847" "90" "2299" "0" "2299" "0" "c.2299del" "r.(?)" "p.(Val767Serfs*20)" "15"
"0000769265" "00001847" "70" "1648" "0" "1659" "0" "c.1648_1659del" "r.(?)" "p.(Gly550_Phe553del)" "12"
"0000769266" "00001847" "90" "6436" "0" "6437" "0" "c.6436_6437insT" "r.(?)" "p.(Gly2146Valfs*36)" "47"
"0000769267" "00001847" "90" "4510" "0" "4535" "0" "c.4510_4535del" "r.(?)" "p.(Glu1504Profs*42)" "30"
"0000769268" "00001847" "90" "903" "0" "903" "0" "c.903del" "r.(?)" "p.(Arg301Serfs*15)" "8"
"0000769269" "00001847" "90" "570" "1" "570" "8" "c.570+1_570+8del" "r.spl" "p.?" "5i"
"0000769270" "00001847" "70" "5282" "0" "5282" "0" "c.5282C>G" "r.(?)" "p.(Pro1761Arg)" "37"
"0000769271" "00001847" "70" "3825" "0" "3825" "0" "c.3825G>C" "r.(?)" "p.(Lys1275Asn)" "26"
"0000769272" "00001847" "90" "1050" "0" "1050" "0" "c.1050del" "r.(?)" "p.(Ile351Leufs*23)" "8"
"0000769273" "00001847" "90" "5898" "2" "5898" "2" "c.5898+2T>C" "r.spl" "p.?" "42i"
"0000769274" "00001847" "70" "1019" "0" "1019" "0" "c.1019A>G" "r.(?)" "p.(Tyr340Cys)" "8"
"0000769275" "00001847" "70" "4061" "0" "4061" "0" "c.4061A>C" "r.(?)" "p.(His1354Pro)" "27"
"0000769276" "00001847" "70" "6284" "0" "6284" "0" "c.6284A>G" "r.(?)" "p.(Asp2095Gly)" "46"
"0000769277" "00001847" "70" "1895" "0" "1895" "0" "c.1895T>A" "r.(?)" "p.(Ile632Asn)" "13"
"0000769278" "00001847" "70" "5332" "0" "5332" "0" "c.5332A>T" "r.(?)" "p.(Met1778Leu)" "38"
"0000769279" "00001847" "70" "686" "0" "686" "0" "c.686T>C" "r.(?)" "p.(Leu229Pro)" "6"
"0000769280" "00001847" "70" "686" "0" "686" "0" "c.686T>C" "r.(?)" "p.(Leu229Pro)" "6"
"0000769281" "00001847" "70" "5282" "0" "5282" "0" "c.5282C>G" "r.(?)" "p.(Pro1761Arg)" "37"
"0000769282" "00001847" "90" "2169" "0" "2172" "0" "c.2169_2172dup" "r.(?)" "p.(Leu725Asnfs*42)" "15"
"0000769283" "00001847" "70" "4324" "0" "4324" "0" "c.4324A>G" "r.(?)" "p.(Asn1442Asp)" "29"
"0000769284" "00001847" "90" "6181" "0" "6184" "0" "c.6181_6184del" "r.(?)" "p.(Thr2061Serfs*53)" "45"
"0000769285" "00001847" "70" "4178" "0" "4192" "0" "c.4178_4192del" "r.(?)" "p.(Val1393_Phe1397del)" "28"
"0000769286" "00001847" "70" "5342" "0" "5342" "0" "c.5342C>A" "r.(?)" "p.(Ala1781Glu)" "38"
"0000769287" "00001847" "90" "4663" "0" "4664" "0" "c.4663_4664del" "r.(?)" "p.(Gln1555Glufs*41)" "32"
"0000769288" "00001847" "70" "5384" "0" "5384" "0" "c.5384T>C" "r.(?)" "p.(Leu1795Ser)" "38"
"0000769289" "00001847" "90" "1099" "1" "1099" "1" "c.1099+1G>C" "r.spl" "p.?" "8i"
"0000769290" "00001847" "90" "6816" "1" "6816" "1" "c.6816+1G>T" "r.spl" "p.?" "49i"
"0000769291" "00001847" "90" "6816" "1" "6816" "1" "c.6816+1G>T" "r.spl" "p.?" "49i"
"0000769292" "00001847" "70" "5332" "0" "5332" "0" "c.5332A>T" "r.(?)" "p.(Met1778Leu)" "38"
"0000769293" "00001847" "70" "3311" "0" "3311" "0" "c.3311T>C" "r.(?)" "p.(Leu1104Pro)" "22"
"0000769294" "00001847" "70" "6746" "0" "6746" "0" "c.6746C>A" "r.(?)" "p.(Ala2249Asp)" "49"
"0000769295" "00001847" "70" "2083" "0" "2083" "0" "c.2083G>C" "r.(?)" "p.(Val695Leu)" "14"
"0000769296" "00001847" "70" "2083" "0" "2083" "0" "c.2083G>C" "r.(?)" "p.(Val695Leu)" "14"
"0000769297" "00001847" "90" "4775" "0" "4775" "0" "c.4775G>A" "r.(?)" "p.(Gly1592Asp)" "34"
"0000769298" "00001847" "90" "6704" "0" "6704" "0" "c.6704C>G" "r.(?)" "p.(Ser2235*)" "48"
"0000769299" "00001847" "70" "4696" "0" "4696" "0" "c.4696C>T" "r.(?)" "p.(Leu1566Phe)" "33"
"0000769300" "00001847" "70" "6455" "0" "6455" "0" "c.6455G>T" "r.(?)" "p.(Gly2152Val)" "47"
"0000769301" "00001847" "90" "978" "0" "978" "0" "c.978C>A" "r.(?)" "p.(Tyr326*)" "8"
"0000769302" "00001847" "90" "2443" "0" "2443" "0" "c.2443C>T" "r.(?)" "p.(Gln815*)" "16"
"0000769303" "00001847" "70" "5282" "0" "5282" "0" "c.5282C>G" "r.(?)" "p.(Pro1761Arg)" "37"
"0000769304" "00001847" "90" "1301" "0" "1301" "0" "c.1301T>G" "r.(?)" "p.(Val434Gly)" "10"
"0000769305" "00001847" "90" "1301" "0" "1301" "0" "c.1301T>G" "r.(?)" "p.(Val434Gly)" "10"
"0000769306" "00001847" "90" "859" "-2" "859" "-2" "c.859-2A>G" "r.(?)" "p.(?)" "7i"
"0000769307" "00001847" "70" "6110" "0" "6110" "0" "c.6110C>A" "r.(?)" "p.(Ala2037Asp)" "44"
"0000769308" "00001847" "70" "1556" "0" "1556" "0" "c.1556G>A" "r.(?)" "p.(Cys519Tyr,?)" "12"
"0000769309" "00001847" "90" "3898" "0" "3898" "0" "c.3898C>T" "r.(?)" "p.(Arg1300*)" "27"
"0000769310" "00001847" "90" "3862" "1" "3862" "1" "c.3862+1G>A" "r.spl" "p.?" "26i"
"0000769311" "00001847" "70" "6112" "0" "6112" "0" "c.6112C>T" "r.(?)" "p.(Arg2038Trp)" "44"
"0000769312" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000769313" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000769314" "00001847" "90" "4720" "0" "4720" "0" "c.4720G>T" "r.(?)" "p.(Glu1574*)" "33"
"0000769315" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000769316" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000769317" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000769318" "00001847" "70" "4457" "0" "4457" "0" "c.4457C>T" "r.(?)" "p.(Pro1486Leu)" "30"
"0000769319" "00001847" "70" "5044" "0" "5058" "0" "c.5044_5058del" "r.(?)" "p.(Val1682_Val1686del)" "36"
"0000769320" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000769321" "00001847" "70" "70" "0" "70" "0" "c.70C>T" "r.(?)" "p.[IIe23IIefs*30,=]" "2"
"0000769322" "00001847" "70" "223" "0" "223" "0" "c.223T>G" "r.(?)" "p.(Cys75Gly)" "3"
"0000769323" "00001847" "50" "455" "0" "455" "0" "c.455G>A" "r.(?)" "p.(Arg152Gln)" "5"
"0000769324" "00001847" "90" "4003" "0" "4004" "0" "c.4003_4004del" "r.(?)" "p.(Pro1335Argfs*86)" "27"
"0000769325" "00001847" "70" "1648" "0" "1648" "0" "c.1648G>A" "r.(?)" "p.(Gly550Arg)" "12"
"0000769326" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000769327" "00001847" "50" "4926" "0" "4926" "0" "c.4926C>G" "r.(?)" "p.(Ser1642Arg)" "35"
"0000769328" "00001847" "50" "4926" "0" "4926" "0" "c.4926C>G" "r.(?)" "p.(Ser1642Arg)" "35"
"0000769329" "00001847" "50" "4328" "0" "4328" "0" "c.4328G>A" "r.(?)" "p.(Arg1443His)" "29"
"0000769330" "00001847" "50" "4926" "0" "4926" "0" "c.4926C>G" "r.(?)" "p.(Ser1642Arg)" "35"
"0000769331" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000769332" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000769333" "00001847" "50" "4926" "0" "4926" "0" "c.4926C>G" "r.(?)" "p.(Ser1642Arg)" "35"
"0000769334" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000769335" "00001847" "50" "868" "0" "868" "0" "c.868C>T" "r.(?)" "p.(Arg290Trp)" "8"
"0000769336" "00001847" "50" "4926" "0" "4926" "0" "c.4926C>G" "r.(?)" "p.(Ser1642Arg)" "35"
"0000769337" "00001847" "90" "6088" "0" "6088" "0" "c.6088C>T" "r.(?)" "p.(Arg2030*)" "44"
"0000769338" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000769339" "00001847" "90" "3862" "1" "3862" "1" "c.3862+1G>A" "r.spl" "p.?" "26i"
"0000769340" "00001847" "50" "4926" "0" "4926" "0" "c.4926C>G" "r.(?)" "p.(Ser1642Arg)" "35"
"0000769341" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000769342" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000769343" "00001847" "70" "32" "0" "32" "0" "c.32T>C" "r.(?)" "p.(Leu11Pro)" "1"
"0000769344" "00001847" "70" "286" "0" "286" "0" "c.286A>G" "r.(?)" "p.(Asn96Asp)" "3"
"0000769345" "00001847" "70" "5282" "0" "5282" "0" "c.5282C>G" "r.(?)" "p.(Pro1761Arg)" "37"
"0000769346" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000769347" "00001847" "50" "4926" "0" "4926" "0" "c.4926C>G" "r.(?)" "p.(Ser1642Arg)" "35"
"0000769348" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000769349" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000769350" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000769351" "00001847" "70" "5282" "0" "5282" "0" "c.5282C>G" "r.(?)" "p.(Pro1761Arg)" "37"
"0000769352" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000769353" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000769354" "00001847" "70" "286" "0" "286" "0" "c.286A>G" "r.(?)" "p.(Asn96Asp)" "3"
"0000769355" "00001847" "90" "5615" "0" "5615" "0" "c.5615G>A" "r.(?)" "p.(Trp1872*)" "40"
"0000769356" "00001847" "90" "3261" "0" "3261" "0" "c.3261A>C" "r.(?)" "p.(Glu1087Asp)" "22"
"0000769357" "00001847" "70" "4253" "5" "4253" "5" "c.4253+5G>A" "r.4129_4253del" "p.(Ile1377Hisfs*3)" "28i"
"0000769358" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000769359" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000769360" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000769361" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000769362" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000769363" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000769364" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000769365" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000769366" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000769367" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000769368" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000769369" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000769370" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000769371" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000769372" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000769373" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000769374" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000769375" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000769376" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000769377" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000769378" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000769379" "00001847" "50" "1373" "0" "1373" "0" "c.1373C>T" "r.(?)" "p.(Pro458Leu)" "11"
"0000769380" "00001847" "90" "1819" "0" "1819" "0" "c.1819G>C" "r.(?)" "p.(Gly607Arg)" "13"
"0000769381" "00001847" "70" "3607" "0" "3607" "0" "c.3607G>T" "r.(?)" "p.(Gly1203Trp)" "24"
"0000769382" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000769383" "00001847" "70" "1822" "0" "1822" "0" "c.1822T>C" "r.(?)" "p.(Phe608Leu)" "13"
"0000769384" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.[(768g>u;768_769ins768+1_768+35)]" "p.(Leu257Valfs*17)" "6"
"0000769385" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.[(768g>u;768_769ins768+1_768+35)]" "p.(Leu257Valfs*17)" "6"
"0000769386" "00001847" "70" "4363" "0" "4363" "0" "c.4363T>C" "r.(?)" "p.(Cys1455Arg)" "30"
"0000769387" "00001847" "90" "818" "0" "818" "0" "c.818G>A" "r.(?)" "p.(Trp273*)" "7"
"0000769388" "00001847" "70" "1822" "0" "1822" "0" "c.1822T>A" "r.(?)" "p.(Phe608Ile)" "13"
"0000769389" "00001847" "70" "1822" "0" "1822" "0" "c.1822T>A" "r.(?)" "p.(Phe608Ile)" "13"
"0000769390" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000769391" "00001847" "70" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" "31"
"0000769392" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.[(768g>u;768_769ins768+1_768+35)]" "p.(Leu257Valfs*17)" "6"
"0000769393" "00001847" "90" "6155" "0" "6155" "0" "c.6155del" "r.(?)" "p.(Asn2052Thrfs*9)" "45"
"0000769394" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000769395" "00001847" "70" "4539" "2001" "4539" "2001" "c.4539+2001G>A" "r.[=,4539_4540ins4539+1891_4540-2162]" "p.[=,Arg1514Leufs*36]" "30i"
"0000769396" "00001847" "90" "4773" "1" "4773" "1" "c.4773+1G>A" "r.spl" "p.?" "33i"
"0000769397" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000769398" "00001847" "70" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.[=,5196_5197ins5196+1140_5196+1212]" "p.[=,Met1733Glufs*78]" "36i"
"0000769399" "00001847" "90" "4539" "1" "4539" "1" "c.4539+1G>T" "r.spl" "p.?" "30i"
"0000769400" "00001847" "90" "4539" "1" "4539" "1" "c.4539+1G>T" "r.spl" "p.?" "30i"
"0000769401" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.[(768g>u;768_769ins768+1_768+35)]" "p.(Leu257Valfs*17)" "6"
"0000769402" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000769403" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.[(768g>u;768_769ins768+1_768+35)]" "p.(Leu257Valfs*17)" "6"
"0000769404" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000769405" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000769406" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000769407" "00001847" "90" "122" "0" "122" "0" "c.122G>A" "r.(?)" "p.(Trp41*)" "2"
"0000769408" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000769409" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000769410" "00001847" "90" "5189" "0" "5189" "0" "c.5189G>A" "r.(?)" "p.(Trp1730*)" "36"
"0000769411" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000769412" "00001847" "90" "3085" "0" "3085" "0" "c.3085C>T" "r.(?)" "p.(Gln1029*)" "21"
"0000769413" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000769414" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000769415" "00001847" "70" "5196" "3" "5196" "6" "c.5196+3_5196+6del" "r.4849_5196del" "p.(Val1617_Ile1732del)" "36i"
"0000769416" "00001847" "70" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" "44"
"0000769417" "00001847" "70" "3364" "0" "3364" "0" "c.3364G>A" "r.(?)" "p.(Glu1122Lys)" "23"
"0000769418" "00001847" "70" "194" "0" "194" "0" "c.194G>A" "r.(?)" "p.(Gly65Glu)" "3"
"0000769419" "00001847" "90" "1937" "1" "1937" "1" "c.1937+1G>A" "r.spl" "p.?" "13i"
"0000769420" "00001847" "70" "4610" "0" "4610" "0" "c.4610C>T" "r.(?)" "p.(Thr1537Met)" "31"
"0000769421" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000769422" "00001847" "70" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" "44"
"0000769423" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000769424" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000769425" "00001847" "70" "71" "0" "71" "0" "c.71G>A" "r.(?)" "p.(Arg24Cys)" "2"
"0000769426" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000769427" "00001847" "70" "4539" "2001" "4539" "2001" "c.4539+2001G>A" "r.[=,4539_4540ins4539+1891_4540-2162]" "p.[=,Arg1514Leufs*36]" "30i"
"0000769428" "00001847" "90" "1293" "0" "1293" "0" "c.1293G>A" "r.(?)" "p.(Trp431*)" "10"
"0000769429" "00001847" "70" "4539" "2001" "4539" "2001" "c.4539+2001G>A" "r.[=,4539_4540ins4539+1891_4540-2162]" "p.[=,Arg1514Leufs*36]" "30i"
"0000769430" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000769431" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000769432" "00001847" "90" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973*)" "43"
"0000769433" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000769434" "00001847" "70" "5381" "0" "5381" "0" "c.5381C>A" "r.(?)" "p.(Ala1794Asp)" "38"
"0000769435" "00001847" "90" "1454" "0" "1454" "0" "c.1454del" "r.(?)" "p.(Gly485Alafs*83)" "11"
"0000769436" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000769437" "00001847" "90" "5616" "0" "5616" "0" "c.5616G>A" "r.(?)" "p.(Trp1872*)" "40"
"0000769438" "00001847" "70" "5914" "0" "5914" "0" "c.5914G>A" "r.(?)" "p.(Gly1972Arg)" "43"
"0000769439" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000769440" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000769441" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000769442" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000769443" "00001847" "90" "2884" "0" "2884" "0" "c.2884del" "r.(?)" "p.(Leu962Trpfs*15)" "19"
"0000769444" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000769445" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000769446" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000769447" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000769448" "00001847" "70" "4253" "5" "4253" "5" "c.4253+5G>A" "r.4129_4253del" "p.(Ile1377Hisfs*3)" "28i"
"0000769449" "00001847" "70" "286" "0" "286" "0" "c.286A>G" "r.(?)" "p.(Asn96Asp)" "3"
"0000769450" "00001847" "90" "5899" "-2" "5899" "-2" "c.5899-2del" "r.(?)" "p.(?)" "42i"
"0000769451" "00001847" "70" "2300" "0" "2300" "0" "c.2300T>A" "r.(?)" "p.(Val767Asp)" "15"
"0000769452" "00001847" "70" "1015" "0" "1015" "0" "c.1015T>G" "r.(?)" "p.(Trp339Gly)" "8"
"0000769453" "00001847" "90" "2884" "0" "2884" "0" "c.2884del" "r.(?)" "p.(Leu962Trpfs*15)" "19"
"0000769454" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000769455" "00001847" "90" "6386" "2" "6386" "2" "c.6386+2C>G" "r.(?)" "p.(?)" "46i"
"0000769456" "00001847" "70" "1015" "0" "1015" "0" "c.1015T>G" "r.(?)" "p.(Trp339Gly)" "8"
"0000769457" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000769458" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000769459" "00001847" "70" "6545" "0" "6580" "0" "c.6545_6580del" "r.(?)" "p.(Leu2182_Phe2193del)" "48"
"0000769460" "00001847" "90" "1819" "0" "1819" "0" "c.1819G>A" "r.(?)" "p.(Gly607Arg)" "13"
"0000769461" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000769462" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000769463" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000769464" "00001847" "70" "194" "0" "194" "0" "c.194G>A" "r.(?)" "p.(Gly65Glu)" "3"
"0000769465" "00001847" "90" "5616" "0" "5616" "0" "c.5616G>A" "r.(?)" "p.(Trp1872*)" "40"
"0000769466" "00001847" "90" "3289" "0" "3289" "0" "c.3289A>T" "r.(?)" "p.(Arg1097*)" "22"
"0000769467" "00001847" "50" "5642" "0" "5642" "0" "c.5642C>T" "r.(?)" "p.(Ala1881Val)" "40"
"0000769468" "00001847" "90" "1760" "2" "1760" "2" "c.1760+2T>C" "r.spl" "p.?" "12i"
"0000769469" "00001847" "70" "4765" "0" "4765" "0" "c.4765G>A" "r.(?)" "p.(Val1589Met)" "33"
"0000769470" "00001847" "70" "4457" "0" "4457" "0" "c.4457C>T" "r.(?)" "p.(Pro1486Leu)" "30"
"0000769471" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000769472" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000769473" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000769474" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000769475" "00001847" "70" "4253" "4" "4253" "4" "c.4253+4C>T" "r.4129_4253del" "p.(Ile1377Hisfs*3)" "28i"
"0000769476" "00001847" "50" "514" "0" "514" "0" "c.514G>A" "r.(?)" "p.(Gly172Ser)" "5"
"0000769477" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000769478" "00001847" "90" "5461" "-1" "5461" "-1" "c.5461-1G>T" "r.spl" "p.?" "38i"
"0000769479" "00001847" "90" "3988" "0" "3988" "0" "c.3988G>T" "r.(?)" "p.(Glu1330*)" "27"
"0000769480" "00001847" "90" "2041" "0" "2041" "0" "c.2041C>T" "r.(?)" "p.(Arg681*)" "14"
"0000769481" "00001847" "90" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.(Met1Val)" "1"
"0000769482" "00001847" "90" "6005" "1" "6005" "1" "c.6005+1G>A" "r.spl" "p.?" "43i"
"0000769483" "00001847" "70" "4462" "0" "4462" "0" "c.4462T>C" "r.(?)" "p.(Cys1488Arg)" "30"
"0000769484" "00001847" "70" "6385" "0" "6385" "0" "c.6385A>G" "r.6340_6386del" "p.(Val2114Hisfs*4)" "46"
"0000769485" "00001847" "90" "3051" "-2" "3051" "-2" "c.3051-2A>G" "r.spl" "p.?" "20i"
"0000769486" "00001847" "90" "4128" "1" "4128" "1" "c.4128+1G>A" "r.spl" "p.?" "27i"
"0000769487" "00001847" "70" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" "35"
"0000769488" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000769489" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000769490" "00001847" "70" "6391" "0" "6391" "0" "c.6391G>A" "r.(?)" "p.(Glu2131Lys)" "47"
"0000769491" "00001847" "70" "4793" "0" "4793" "0" "c.4793C>A" "r.(?)" "p.(Ala1598Asp)" "34"
"0000769492" "00001847" "50" "4685" "0" "4685" "0" "c.4685T>C" "r.(?)" "p.(Ile1562Thr)" "33"
"0000769493" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000769494" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000769495" "00001847" "70" "1253" "0" "1253" "0" "c.1253T>C" "r.(?)" "p.(Phe418Ser)" "10"
"0000769496" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000769497" "00001847" "70" "214" "0" "214" "0" "c.214G>A" "r.(?)" "p.(Gly72Arg)" "3"
"0000769498" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000769499" "00001847" "70" "1253" "0" "1253" "0" "c.1253T>C" "r.(?)" "p.(Phe418Ser)" "10"
"0000769500" "00001847" "70" "1648" "0" "1648" "0" "c.1648G>A" "r.(?)" "p.(Gly550Arg)" "12"
"0000769501" "00001847" "70" "5549" "0" "5549" "0" "c.5549T>C" "r.(?)" "p.(Leu1850Pro)" "39"
"0000769502" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000769503" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.[(768g>u;768_769ins768+1_768+35)]" "p.(Leu257Valfs*17)" "6"
"0000769504" "00001847" "70" "214" "0" "214" "0" "c.214G>A" "r.(?)" "p.(Gly72Arg)" "3"
"0000769505" "00001847" "90" "6445" "0" "6445" "0" "c.6445C>T" "r.(?)" "p.(Arg2149*)" "47"
"0000769506" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000769507" "00001847" "70" "4571" "0" "4571" "0" "c.4571A>G" "r.(?)" "p.(Asp1524Gly)" "31"
"0000769508" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000769509" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000769510" "00001847" "70" "4462" "0" "4462" "0" "c.4462T>C" "r.(?)" "p.(Cys1488Arg)" "30"
"0000769511" "00001847" "90" "29" "0" "29" "0" "c.29dup" "r.(?)" "p.(Leu10Phefs*44)" "1"
"0000769512" "00001847" "90" "6817" "-2" "6817" "-2" "c.6817-2A>C" "r.spl" "p.?" "49i"
"0000769513" "00001847" "70" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" "35"
"0000769514" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000769515" "00001847" "70" "4539" "2065" "4539" "2065" "c.4539+2065C>G" "r.[4539_4540ins4539+1891_4539+2060,=]" "p.[Arg1514Lysfs*35,=]" "30i"
"0000769516" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000769517" "00001847" "90" "5161" "0" "5162" "0" "c.5161_5162del" "r.(?)" "p.(Thr1721Hisfs*65)" "36"
"0000769518" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000769519" "00001847" "70" "3064" "0" "3064" "0" "c.3064G>A" "r.(?)" "p.(Glu1022Lys)" "21"
"0000769520" "00001847" "50" "3758" "0" "3758" "0" "c.3758C>T" "r.(?)" "p.(Thr1253Met)" "25"
"0000769521" "00001847" "70" "6729" "5" "6729" "19" "c.6729+5_6729+19del" "r.6480_6729del" "p.(Phe2161Cysfs*3)" "48i"
"0000769522" "00001847" "70" "6729" "5" "6729" "19" "c.6729+5_6729+19del" "r.6480_6729del" "p.(Phe2161Cysfs*3)" "48i"
"0000769523" "00001847" "70" "1253" "0" "1253" "0" "c.1253T>C" "r.(?)" "p.(Phe418Ser)" "10"
"0000769524" "00001847" "90" "885" "0" "885" "0" "c.885del" "r.(?)" "p.(Leu296Cysfs*4)" "8"
"0000769525" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000769526" "00001847" "70" "214" "0" "214" "0" "c.214G>A" "r.(?)" "p.(Gly72Arg)" "3"
"0000769527" "00001847" "90" "6319" "0" "6319" "0" "c.6319C>T" "r.(?)" "p.(Arg2107Cys)" "46"
"0000769528" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000769529" "00001847" "90" "5161" "0" "5162" "0" "c.5161_5162del" "r.(?)" "p.(Thr1721Hisfs*65)" "36"
"0000769530" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.[(768g>u;768_769ins768+1_768+35)]" "p.(Leu257Valfs*17)" "6"
"0000769531" "00001847" "90" "5898" "2" "5898" "2" "c.5898+2T>C" "r.spl" "p.?" "42i"
"0000769532" "00001847" "70" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.[=,5196_5197ins5196+1140_5196+1212]" "p.[=,Met1733Glufs*78]" "36i"
"0000769533" "00001847" "50" "5585" "-10" "5585" "-10" "c.5585-10T>C" "r.=" "p.(=)" "39i"
"0000769534" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000769535" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000769536" "00001847" "90" "4539" "1" "4539" "1" "c.4539+1G>T" "r.spl" "p.?" "30i"
"0000769537" "00001847" "70" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" "44"
"0000769538" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000769539" "00001847" "90" "3259" "0" "3259" "0" "c.3259G>A" "r.(?)" "p.(Glu1087Lys)" "22"
"0000769540" "00001847" "90" "3259" "0" "3259" "0" "c.3259G>A" "r.(?)" "p.(Glu1087Lys)" "22"
"0000769541" "00001847" "90" "5762" "0" "5763" "0" "c.5762_5763dup" "r.(?)" "p.(Ala1922Trpfs*18)" "41"
"0000769542" "00001847" "90" "4539" "1" "4539" "1" "c.4539+1G>T" "r.spl" "p.?" "30i"
"0000769543" "00001847" "90" "3874" "0" "3874" "0" "c.3874C>T" "r.(?)" "p.(Gln1292*)" "27"
"0000769544" "00001847" "70" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.[=,5196_5197ins5196+1140_5196+1212]" "p.[=,Met1733Glufs*78]" "36i"
"0000769545" "00001847" "90" "5312" "1" "5312" "1" "c.5312+1G>A" "r.spl" "p.?" "37i"
"0000769546" "00001847" "90" "5161" "0" "5162" "0" "c.5161_5162del" "r.(?)" "p.(Thr1721Hisfs*65)" "36"
"0000769547" "00001847" "90" "3874" "0" "3874" "0" "c.3874C>T" "r.(?)" "p.(Gln1292*)" "27"
"0000769548" "00001847" "70" "214" "0" "214" "0" "c.214G>A" "r.(?)" "p.(Gly72Arg)" "3"
"0000769549" "00001847" "90" "4773" "1" "4773" "1" "c.4773+1G>A" "r.spl" "p.?" "33i"
"0000769550" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.[(768g>u;768_769ins768+1_768+35)]" "p.(Leu257Valfs*17)" "6"
"0000769551" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.[(768g>u;768_769ins768+1_768+35)]" "p.(Leu257Valfs*17)" "6"
"0000769552" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000769553" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000769554" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000769555" "00001847" "70" "872" "0" "872" "0" "c.872C>T" "r.(?)" "p.(Pro291Leu)" "8"
"0000769556" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.[(768g>u;768_769ins768+1_768+35)]" "p.(Leu257Valfs*17)" "6"
"0000769557" "00001847" "70" "2947" "0" "2947" "0" "c.2947A>G" "r.(?)" "p.(Thr983Ala)" "20"
"0000769558" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.[(768g>u;768_769ins768+1_768+35)]" "p.(Leu257Valfs*17)" "6"
"0000769559" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000769560" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000769561" "00001847" "70" "214" "0" "214" "0" "c.214G>A" "r.(?)" "p.(Gly72Arg)" "3"
"0000769562" "00001847" "70" "1906" "0" "1906" "0" "c.1906C>A" "r.(?)" "p.(Gln636Lys)" "13"
"0000769563" "00001847" "70" "4748" "0" "4748" "0" "c.4748T>C" "r.(?)" "p.(Leu1583Pro)" "33"
"0000769564" "00001847" "90" "6146" "0" "6146" "0" "c.6146del" "r.(?)" "p.(Lys2049Argfs*12)" "44"
"0000769565" "00001847" "90" "6146" "0" "6146" "0" "c.6146del" "r.(?)" "p.(Lys2049Argfs*12)" "44"
"0000769566" "00001847" "70" "3420" "0" "3420" "0" "c.3420C>G" "r.(?)" "p.(Cys1140Trp)" "23"
"0000769567" "00001847" "70" "3420" "0" "3420" "0" "c.3420C>G" "r.(?)" "p.(Cys1140Trp)" "23"
"0000769568" "00001847" "90" "3470" "0" "3470" "0" "c.3470T>G" "r.(?)" "p.(Leu1157*)" "23"
"0000769569" "00001847" "70" "4762" "0" "4762" "0" "c.4762A>T" "r.(?)" "p.(Asn1588Tyr)" "33"
"0000769570" "00001847" "50" "302" "68" "302" "68" "c.302+68C>T" "r.(?)" "p.(?)" "3i"
"0000769571" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000769572" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000769573" "00001847" "70" "4253" "43" "4253" "43" "c.4253+43G>A" "r.[=,4129_4253del]" "p.[=,Ile1377Hisfs*3]" "28i"
"0000769574" "00001847" "90" "4352" "1" "4352" "1" "c.4352+1G>A" "r.spl" "p.?" "29i"
"0000769575" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000769576" "00001847" "90" "6658" "0" "6658" "0" "c.6658C>T" "r.(?)" "p.(Gln2220*)" "48"
"0000769577" "00001847" "90" "5175" "0" "5175" "0" "c.5175dup" "r.(?)" "p.(Thr1726Aspfs*61)" "36"
"0000769578" "00001847" "70" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" "44"
"0000769579" "00001847" "50" "160" "0" "160" "0" "c.160T>G" "r.(?)" "p.(Cys54Gly,?)" "2"
"0000769580" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000769581" "00001847" "70" "179" "0" "179" "0" "c.179C>T" "r.(?)" "p.(Ala60Val)" "3"
"0000769582" "00001847" "50" "2690" "0" "2690" "0" "c.2690C>T" "r.(?)" "p.(Thr897Ile)" "18"
"0000769583" "00001847" "50" "4771" "0" "4771" "0" "c.4771G>A" "r.(?)" "p.(Gly1591Arg)" "33"
"0000769584" "00001847" "50" "4771" "0" "4771" "0" "c.4771G>A" "r.(?)" "p.(Gly1591Arg)" "33"
"0000769585" "00001847" "50" "3377" "0" "3377" "0" "c.3377T>C" "r.(?)" "p.(Leu1126Pro)" "23"
"0000769586" "00001847" "70" "6112" "0" "6112" "0" "c.6112C>T" "r.(?)" "p.(Arg2038Trp)" "44"
"0000769587" "00001847" "90" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973*)" "43"
"0000769588" "00001847" "90" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973*)" "43"
"0000769589" "00001847" "70" "2300" "0" "2300" "0" "c.2300T>A" "r.(?)" "p.(Val767Asp)" "15"
"0000769590" "00001847" "70" "161" "0" "161" "0" "c.161G>A" "r.[161_302del,161g>a]" "p.[Cys54Serfs*14,Cys54Tyr]" "3"
"0000769591" "00001847" "50" "5973" "0" "5973" "0" "c.5973G>C" "r.(?)" "p.(Val1991=)" "43"
"0000769592" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000769593" "00001847" "50" "455" "0" "455" "0" "c.455G>A" "r.(?)" "p.(Arg152Gln)" "5"
"0000769594" "00001847" "50" "1928" "0" "1928" "0" "c.1928T>G" "r.(?)" "p.(Val643Gly)" "13"
"0000769595" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000769596" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000769597" "00001847" "10" "6529" "0" "6529" "0" "c.6529G>A" "r.(?)" "p.(Asp2177Asn)" "48"
"0000769598" "00001847" "70" "956" "0" "956" "0" "c.956T>G" "r.(?)" "p.(Leu319Arg)" "8"
"0000769599" "00001847" "70" "1719" "0" "1719" "0" "c.1719G>A" "r.(?)" "p.(Met573Ile)" "12"
"0000769600" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000769601" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000769602" "00001847" "70" "4253" "4" "4253" "4" "c.4253+4C>T" "r.4129_4253del" "p.(Ile1377Hisfs*3)" "28i"
"0000769603" "00001847" "70" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" "35"
"0000769604" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000769605" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000769606" "00001847" "90" "1454" "0" "1454" "0" "c.1454del" "r.(?)" "p.(Gly485Alafs*83)" "11"
"0000769607" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000769608" "00001847" "90" "67" "-2" "67" "-2" "c.67-2A>G" "r.spl" "p.?" "1i"
"0000769609" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.[(768g>u;768_769ins768+1_768+35)]" "p.(Leu257Valfs*17)" "6"
"0000769610" "00001847" "90" "1293" "0" "1293" "0" "c.1293G>A" "r.(?)" "p.(Trp431*)" "10"
"0000769611" "00001847" "90" "1957" "0" "1957" "0" "c.1957C>T" "r.(?)" "p.(Arg653Cys)" "14"
"0000769612" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000769613" "00001847" "50" "4771" "0" "4771" "0" "c.4771G>A" "r.(?)" "p.(Gly1591Arg)" "33"
"0000769614" "00001847" "50" "5065" "0" "5065" "0" "c.5065T>C" "r.(?)" "p.(Ser1689Pro)" "36"
"0000769615" "00001847" "50" "5196" "1159" "5196" "1159" "c.5196+1159G>A" "r.=" "p.(=)" "36i"
"0000769616" "00001847" "50" "4771" "0" "4771" "0" "c.4771G>A" "r.(?)" "p.(Gly1591Arg)" "33"
"0000769617" "00001847" "50" "5908" "0" "5908" "0" "c.5908C>T" "r.(?)" "p.(Leu1970Phe)" "43"
"0000769618" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000769619" "00001847" "70" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" "44"
"0000769620" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000769621" "00001847" "90" "3289" "0" "3289" "0" "c.3289A>T" "r.(?)" "p.(Arg1097*)" "22"
"0000769622" "00001847" "50" "2588" "-12" "2588" "-12" "c.2588-12C>G" "r.=" "p.(=)" "16i"
"0000769623" "00001847" "70" "1749" "0" "1749" "0" "c.1749G>C" "r.(?)" "p.(Lys583Asn)" "12"
"0000769624" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000769625" "00001847" "70" "5509" "0" "5509" "0" "c.5509C>T" "r.(?)" "p.(Pro1837Ser)" "39"
"0000769626" "00001847" "90" "5018" "2" "5018" "2" "c.5018+2T>C" "r.spl" "p.?" "35i"
"0000769627" "00001847" "90" "735" "0" "735" "0" "c.735T>G" "r.(?)" "p.(Tyr245*)" "6"
"0000769628" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000769629" "00001847" "70" "6220" "0" "6220" "0" "c.6220G>A" "r.(?)" "p.(Gly2074Ser)" "45"
"0000769630" "00001847" "50" "656" "0" "656" "0" "c.656G>C" "r.(?)" "p.(Arg219Thr)" "6"
"0000769631" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000769632" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000769633" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000769634" "00001847" "70" "5381" "0" "5381" "0" "c.5381C>A" "r.(?)" "p.(Ala1794Asp)" "38"
"0000769635" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000769636" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000769637" "00001847" "70" "4222" "0" "4222" "0" "c.4222T>C" "r.(?)" "p.(Trp1408Arg)" "28"
"0000769638" "00001847" "70" "4849" "0" "4849" "0" "c.4849G>A" "r.[4849_5018del,4849_5109del,=]" "p. [Val1617Alafs*113,Val1617Met,=]" "35"
"0000769639" "00001847" "50" "4771" "0" "4771" "0" "c.4771G>A" "r.(?)" "p.(Gly1591Arg)" "33"
"0000769640" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000769641" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000769642" "00001847" "50" "6148" "0" "6148" "0" "c.6148G>C" "r.=" "p.(Val2050Leu)" "45"
"0000769643" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000769644" "00001847" "70" "710" "0" "710" "0" "c.710T>C" "r.(?)" "p.(Leu237Pro)" "6"
"0000769645" "00001847" "10" "3602" "0" "3602" "0" "c.3602T>G" "r.(?)" "p.(Leu1201Arg)" "24"
"0000769646" "00001847" "70" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" "44"
"0000769647" "00001847" "70" "2570" "0" "2570" "0" "c.2570T>C" "r.(?)" "p.(Leu857Pro)" "16"
"0000769648" "00001847" "90" "5018" "2" "5018" "2" "c.5018+2T>C" "r.spl" "p.?" "35i"
"0000769649" "00001847" "90" "3970" "0" "3970" "0" "c.3970del" "r.(?)" "p.(Ala1324Argfs*65)" "27"
"0000769650" "00001847" "90" "5313" "-2" "5313" "-2" "c.5313-2del" "r.spl?" "p.(?)" "37i"
"0000769651" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000769652" "00001847" "70" "1015" "0" "1015" "0" "c.1015T>G" "r.(?)" "p.(Trp339Gly)" "8"
"0000769653" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000769654" "00001847" "70" "4222" "0" "4222" "0" "c.4222T>C" "r.(?)" "p.(Trp1408Arg)" "28"
"0000769655" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000769656" "00001847" "70" "3323" "0" "3323" "0" "c.3323G>A" "r.(?)" "p.(Arg1108His)" "22"
"0000769657" "00001847" "70" "1253" "0" "1253" "0" "c.1253T>C" "r.(?)" "p.(Phe418Ser)" "10"
"0000769658" "00001847" "70" "6098" "0" "6098" "0" "c.6098T>G" "r.(?)" "p.(Leu2033Arg)" "44"
"0000769659" "00001847" "50" "2531" "0" "2531" "0" "c.2531T>G" "r.(?)" "p.(Leu844Arg)" "16"
"0000769660" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000769661" "00001847" "10" "6529" "0" "6529" "0" "c.6529G>A" "r.(?)" "p.(Asp2177Asn)" "48"
"0000769662" "00001847" "90" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071Cysfs*14)" "22"
"0000769663" "00001847" "70" "1022" "0" "1022" "0" "c.1022A>G" "r.(?)" "p.(Glu341Gly)" "8"
"0000769664" "00001847" "90" "735" "0" "735" "0" "c.735T>G" "r.(?)" "p.(Tyr245*)" "6"
"0000769665" "00001847" "70" "1249" "0" "1249" "0" "c.1249A>G" "r.(?)" "p.(Thr417Ala)" "10"
"0000769666" "00001847" "70" "686" "0" "686" "0" "c.686T>C" "r.(?)" "p.(Leu229Pro)" "6"
"0000769667" "00001847" "90" "4128" "0" "4128" "0" "c.4128G>C" "r.4128_4129ins4128+1_4128+12" "p.(Gln1376_Ile1377insValLeuLeuSer)" "27"
"0000769668" "00001847" "90" "6228" "0" "6228" "0" "c.6228del" "r.(?)" "p.(Lys2076Asnfs*39)" "45"
"0000769669" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000769670" "00001847" "50" "5196" "1159" "5196" "1159" "c.5196+1159G>A" "r.=" "p.(=)" "36i"
"0000769671" "00001847" "50" "455" "0" "455" "0" "c.455G>A" "r.(?)" "p.(Arg152Gln)" "5"
"0000769672" "00001847" "90" "2564" "0" "2564" "0" "c.2564G>A" "r.(?)" "p.(Trp855*)" "16"
"0000769673" "00001847" "70" "4253" "5" "4253" "5" "c.4253+5G>T" "r.[4129_4253del,=]" "p.[Ile1377Hisfs*3,=]" "28i"
"0000769674" "00001847" "90" "4539" "2064" "4539" "2064" "c.4539+2064C>T" "r.[=,4539_4540ins4539+1891_4540-2162]" "p.[=,Arg1514Leufs*36]" "30i"
"0000769675" "00001847" "10" "6529" "0" "6529" "0" "c.6529G>A" "r.(?)" "p.(Asp2177Asn)" "48"
"0000769676" "00001847" "90" "5196" "1" "5196" "1" "c.5196+1G>A" "r.spl" "p.?" "36i"
"0000769677" "00001847" "50" "769" "-605" "769" "-605" "c.769-605T>C" "r.=" "p.(=)" "6i"
"0000769678" "00001847" "90" "2594" "0" "2595" "0" "c.2594_2595del" "r.(?)" "p.(Tyr865Trpfs*19)" "17"
"0000769679" "00001847" "70" "2494" "0" "2494" "0" "c.2494G>T" "r.(?)" "p.(Asp832Tyr)" "16"
"0000769680" "00001847" "50" "769" "-605" "769" "-605" "c.769-605T>C" "r.=" "p.(=)" "6i"
"0000769681" "00001847" "90" "6238" "0" "6239" "0" "c.6238_6239del" "r.(?)" "p.(Ser2080Hisfs*16)" "45"
"0000769682" "00001847" "90" "442" "1" "442" "1" "c.442+1G>A" "r.(?)" "p.(?)" "4i"
"0000769683" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000769684" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000769685" "00001847" "50" "6148" "0" "6148" "0" "c.6148G>C" "r.=" "p.(Val2050Leu)" "45"
"0000769686" "00001847" "90" "4539" "0" "4539" "0" "c.4539G>A" "r.[4467_4539del,=]" "p.[Cys1490Glufs*12,=]" "30"
"0000769687" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000769688" "00001847" "90" "3499" "0" "3499" "0" "c.3499del" "r.(?)" "p.(Gln1167Argfs*29)" "23"
"0000769689" "00001847" "70" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" "44"
"0000769690" "00001847" "70" "4773" "3" "4773" "3" "c.4773+3A>G" "r.[4668_4773del,=]" "p.[Tyr1557Alafs*18,=]" "33i"
"0000769691" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000769692" "00001847" "50" "6148" "0" "6148" "0" "c.6148G>C" "r.=" "p.(Val2050Leu)" "45"
"0000769693" "00001847" "50" "455" "0" "455" "0" "c.455G>A" "r.(?)" "p.(Arg152Gln)" "5"
"0000769694" "00001847" "10" "3899" "0" "3899" "0" "c.3899G>A" "r.(?)" "p.(Arg1300Gln)" "27"
"0000769695" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000769696" "00001847" "10" "6529" "0" "6529" "0" "c.6529G>A" "r.(?)" "p.(Asp2177Asn)" "48"
"0000769697" "00001847" "70" "5381" "0" "5381" "0" "c.5381C>A" "r.(?)" "p.(Ala1794Asp)" "38"
"0000769698" "00001847" "90" "4539" "2064" "4539" "2064" "c.4539+2064C>T" "r.[=,4539_4540ins4539+1891_4540-2162]" "p.[=,Arg1514Leufs*36]" "30i"
"0000769699" "00001847" "70" "2570" "0" "2570" "0" "c.2570T>C" "r.(?)" "p.(Leu857Pro)" "16"
"0000769700" "00001847" "70" "3623" "0" "3623" "0" "c.3623T>G" "r.(?)" "p.(Leu1208Arg)" "25"
"0000769701" "00001847" "70" "3623" "0" "3623" "0" "c.3623T>G" "r.(?)" "p.(Leu1208Arg)" "25"
"0000769702" "00001847" "70" "2570" "0" "2570" "0" "c.2570T>C" "r.(?)" "p.(Leu857Pro)" "16"
"0000769703" "00001847" "70" "2570" "0" "2570" "0" "c.2570T>C" "r.(?)" "p.(Leu857Pro)" "16"
"0000769704" "00001847" "70" "2570" "0" "2570" "0" "c.2570T>C" "r.(?)" "p.(Leu857Pro)" "16"
"0000769705" "00001847" "70" "2570" "0" "2570" "0" "c.2570T>C" "r.(?)" "p.(Leu857Pro)" "16"
"0000769706" "00001847" "70" "2570" "0" "2570" "0" "c.2570T>C" "r.(?)" "p.(Leu857Pro)" "16"
"0000769707" "00001847" "90" "4567" "0" "4567" "0" "c.4567C>T" "r.(?)" "p.(Gln1523*)" "31"
"0000769708" "00001847" "70" "2570" "0" "2570" "0" "c.2570T>C" "r.(?)" "p.(Leu857Pro)" "16"
"0000769709" "00001847" "70" "2570" "0" "2570" "0" "c.2570T>C" "r.(?)" "p.(Leu857Pro)" "16"
"0000769710" "00001847" "70" "2570" "0" "2570" "0" "c.2570T>C" "r.(?)" "p.(Leu857Pro)" "16"
"0000769711" "00001847" "70" "2570" "0" "2570" "0" "c.2570T>C" "r.(?)" "p.(Leu857Pro)" "16"
"0000769712" "00001847" "70" "2570" "0" "2570" "0" "c.2570T>C" "r.(?)" "p.(Leu857Pro)" "16"
"0000769713" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000769714" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000769715" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000769716" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000769717" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000769718" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000769719" "00001847" "90" "2657" "0" "2657" "0" "c.2657del" "r.(?)" "p.(Cys886Phefs*15)" "18"
"0000769720" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000769721" "00001847" "70" "161" "0" "161" "0" "c.161G>A" "r.[161_302del,161g>a]" "p.[Cys54Serfs*14,Cys54Tyr]" "3"
"0000769722" "00001847" "70" "161" "0" "161" "0" "c.161G>A" "r.[161_302del,161g>a]" "p.[Cys54Serfs*14,Cys54Tyr]" "3"
"0000769723" "00001847" "90" "1937" "5" "1937" "5" "c.1937+5G>A" "r.1806_1937del" "p.(Tyr603_Ser646del)" "13i"
"0000769724" "00001847" "90" "1938" "-619" "1938" "-619" "c.1938-619A>G" "r.[1937_1938ins1938-797_1938-624,=]" "p.[Phe647Alafs*22,=]" "13i"
"0000769725" "00001847" "70" "2161" "-8" "2161" "-8" "c.2161-8G>A" "r.2161_2382del" "p.(His721_Val794del)" "14i"
"0000769726" "00001847" "90" "2919" "-826" "2919" "-826" "c.2919-826T>A" "r.[2918_2919ins2919-957_2919-825,=]" "p.[Leu973Phefs*1,=]" "19i"
"0000769727" "00001847" "90" "3050" "370" "3050" "370" "c.3050+370C>T" "r.3050_3051ins3050+164_3050+368" "p.(Leu1018Glufs*4)" "20i"
"0000769728" "00001847" "90" "4352" "61" "4352" "61" "c.4352+61G>A" "r.[4352_4353ins4352+1_4352+57,=]" "p.[Glu1452*,=]" "29i"
"0000769729" "00001847" "90" "4667" "0" "4667" "0" "c.4667G>A" "r.4635_4667del" "p.(Ser1545_Gln1555del)" "32"
"0000769730" "00001847" "90" "5018" "5" "5018" "5" "c.5018+5G>A" "r.4849_5018del" "p.(Val1617Alafs*113)" "35i"
"0000769731" "00001847" "90" "5715" "-5" "5715" "-5" "c.5715-5T>G" "r.[5461_5714,5460_5715del_ins5715-4_5715-1,=]" "p.[Thr1821Serfs*34,=]" "40i"
"0000769732" "00001847" "90" "6147" "0" "6147" "0" "c.6147G>A" "r.6006_6147del" "p.(Ser2002Argfs*11)" "44"
"0000769733" "00001847" "70" "6385" "0" "6385" "0" "c.6385A>G" "r.6340_6386del" "p.(Val2114Hisfs*4)" "46"
"0000769734" "00001847" "90" "5715" "-5" "5715" "-5" "c.5715-5T>G" "r.[5461_5714,5460_5715del_ins5715-4_5715-1,=]" "p.[Thr1821Serfs*34,=]" "40i"
"0000769735" "00001847" "90" "1937" "5" "1937" "5" "c.1937+5G>A" "r.1806_1937del" "p.(Tyr603_Ser646del)" "13i"
"0000769736" "00001847" "90" "6658" "0" "6658" "0" "c.6658C>T" "r.(?)" "p.(Gln2220*)" "48"
"0000769737" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000769738" "00001847" "90" "6658" "0" "6658" "0" "c.6658C>T" "r.(?)" "p.(Gln2220*)" "48"
"0000769739" "00001847" "70" "1007" "0" "1007" "0" "c.1007C>G" "r.(?)" "p.(Ser336Cys)" "8"
"0000769740" "00001847" "90" "1457" "0" "1457" "0" "c.1457del" "r.(?)" "p.(Pro486Leufs*82)" "11"
"0000769741" "00001847" "70" "161" "0" "161" "0" "c.161G>A" "r.[161_302del,161g>a]" "p.[Cys54Serfs*14,Cys54Tyr]" "3"
"0000769742" "00001847" "70" "161" "0" "161" "0" "c.161G>A" "r.[161_302del,161g>a]" "p.[Cys54Serfs*14,Cys54Tyr]" "3"
"0000769743" "00001847" "70" "1610" "0" "1610" "0" "c.1610G>A" "r.(?)" "p.(Arg537His)" "12"
"0000769744" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000769745" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000769746" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000769747" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000769748" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000769749" "00001847" "50" "1654" "0" "1654" "0" "c.1654G>A" "r.(?)" "p.(Val552Ile)" "12"
"0000769750" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000769751" "00001847" "70" "1807" "0" "1807" "0" "c.1807T>C" "r.(?)" "p.(Tyr603His)" "13"
"0000769752" "00001847" "90" "1819" "0" "1819" "0" "c.1819G>A" "r.(?)" "p.(Gly607Arg)" "13"
"0000769753" "00001847" "90" "1819" "0" "1819" "0" "c.1819G>A" "r.(?)" "p.(Gly607Arg)" "13"
"0000769754" "00001847" "50" "1928" "0" "1928" "0" "c.1928T>G" "r.(?)" "p.(Val643Gly)" "13"
"0000769755" "00001847" "90" "2041" "0" "2041" "0" "c.2041C>T" "r.(?)" "p.(Arg681*)" "14"
"0000769756" "00001847" "90" "2041" "0" "2041" "0" "c.2041C>T" "r.(?)" "p.(Arg681*)" "14"
"0000769757" "00001847" "90" "2041" "0" "2041" "0" "c.2041C>T" "r.(?)" "p.(Arg681*)" "14"
"0000769758" "00001847" "90" "2041" "0" "2041" "0" "c.2041C>T" "r.(?)" "p.(Arg681*)" "14"
"0000769759" "00001847" "90" "2041" "0" "2041" "0" "c.2041C>T" "r.(?)" "p.(Arg681*)" "14"
"0000769760" "00001847" "90" "2041" "0" "2041" "0" "c.2041C>T" "r.(?)" "p.(Arg681*)" "14"
"0000769761" "00001847" "90" "2041" "0" "2041" "0" "c.2041C>T" "r.(?)" "p.(Arg681*)" "14"
"0000769762" "00001847" "90" "2564" "0" "2564" "0" "c.2564G>A" "r.(?)" "p.(Trp855*)" "16"
"0000769763" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000769764" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000769765" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000769766" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000769767" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000769768" "00001847" "50" "2701" "0" "2701" "0" "c.2701A>G" "r.(?)" "p.(Thr901Ala)" "18"
"0000769769" "00001847" "70" "286" "0" "286" "0" "c.286A>G" "r.(?)" "p.(Asn96Asp)" "3"
"0000769770" "00001847" "70" "2915" "0" "2915" "0" "c.2915C>A" "r.(?)" "p.(Thr972Asn)" "19"
"0000769771" "00001847" "90" "3027" "0" "3027" "0" "c.3027del" "r.(?)" "p.(Gln1010Serfs*21)" "20"
"0000769772" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000769773" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000769774" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000769775" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000769776" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000769777" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000769778" "00001847" "90" "3178" "0" "3178" "0" "c.3178C>T" "r.(?)" "p.(Gln1060*)" "21"
"0000769779" "00001847" "90" "3523" "-1" "3523" "-1" "c.3523-1G>A" "r.spl" "p.?" "23i"
"0000769780" "00001847" "90" "3523" "-1" "3523" "-1" "c.3523-1G>A" "r.spl" "p.?" "23i"
"0000769781" "00001847" "70" "3682" "0" "3682" "0" "c.3682G>A" "r.(?)" "p.(Glu1228Lys)" "25"
"0000769782" "00001847" "90" "3862" "1" "3862" "1" "c.3862+1G>A" "r.spl" "p.?" "26i"
"0000769783" "00001847" "10" "3899" "0" "3899" "0" "c.3899G>A" "r.(?)" "p.(Arg1300Gln)" "27"
"0000769784" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000769785" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000769786" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000769787" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000769788" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000769789" "00001847" "70" "4253" "4" "4253" "4" "c.4253+4C>T" "r.4129_4253del" "p.(Ile1377Hisfs*3)" "28i"
"0000769790" "00001847" "70" "4253" "4" "4253" "4" "c.4253+4C>T" "r.4129_4253del" "p.(Ile1377Hisfs*3)" "28i"
"0000769791" "00001847" "70" "4462" "0" "4462" "0" "c.4462T>C" "r.(?)" "p.(Cys1488Arg)" "30"
"0000769792" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000769793" "00001847" "90" "4537" "0" "4537" "0" "c.4537del" "r.(?)" "p.(Gln1513Argfs*13)" "30"
"0000769794" "00001847" "90" "4537" "0" "4537" "0" "c.4537del" "r.(?)" "p.(Gln1513Argfs*13)" "30"
"0000769795" "00001847" "90" "4537" "0" "4537" "0" "c.4537dup" "r.(?)" "p.(Gln1513Profs*42)" "30"
"0000769796" "00001847" "90" "4537" "0" "4537" "0" "c.4537dup" "r.(?)" "p.(Gln1513Profs*42)" "30"
"0000769797" "00001847" "90" "4537" "0" "4537" "0" "c.4537dup" "r.(?)" "p.(Gln1513Profs*42)" "30"
"0000769798" "00001847" "90" "454" "0" "454" "0" "c.454C>T" "r.(?)" "p.(Arg152*)" "5"
"0000769799" "00001847" "90" "4667" "2" "4667" "2" "c.4667+2T>C" "r.spl" "p.?" "32i"
"0000769800" "00001847" "50" "4685" "0" "4685" "0" "c.4685T>C" "r.(?)" "p.(Ile1562Thr)" "33"
"0000769801" "00001847" "50" "4685" "0" "4685" "0" "c.4685T>C" "r.(?)" "p.(Ile1562Thr)" "33"
"0000769802" "00001847" "90" "4773" "1" "4773" "1" "c.4773+1G>A" "r.spl" "p.?" "33i"
"0000769803" "00001847" "70" "4773" "3" "4773" "3" "c.4773+3A>G" "r.[4668_4773del,=]" "p.[Tyr1557Alafs*18,=]" "33i"
"0000769804" "00001847" "70" "4919" "0" "4919" "0" "c.4919G>A" "r.(?)" "p.(Arg1640Gln)" "35"
"0000769805" "00001847" "70" "4919" "0" "4919" "0" "c.4919G>A" "r.(?)" "p.(Arg1640Gln)" "35"
"0000769806" "00001847" "90" "5196" "1" "5196" "1" "c.5196+1G>A" "r.spl" "p.?" "36i"
"0000769807" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000769808" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000769809" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000769810" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000769811" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000769812" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000769813" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000769814" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000769815" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000769816" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000769817" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000769818" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000769819" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000769820" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000769821" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000769822" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000769823" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000769824" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000769825" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000769826" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000769827" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000769828" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000769829" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000769830" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000769831" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000769832" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000769833" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000769834" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000769835" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000769836" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000769837" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000769838" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000769839" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000769840" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000769841" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000769842" "00001847" "70" "5929" "0" "5929" "0" "c.5929G>A" "r.(?)" "p.(Gly1977Ser)" "43"
"0000769843" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000769844" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000769845" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000769846" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000769847" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000769848" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000769849" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000769850" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000769851" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000769852" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000769853" "00001847" "50" "6148" "0" "6148" "0" "c.6148G>C" "r.=" "p.(Val2050Leu)" "45"
"0000769854" "00001847" "70" "6229" "0" "6229" "0" "c.6229C>T" "r.(?)" "p.(Arg2077Trp)" "45"
"0000769855" "00001847" "70" "6229" "0" "6229" "0" "c.6229C>T" "r.(?)" "p.(Arg2077Trp)" "45"
"0000769856" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000769857" "00001847" "70" "6449" "0" "6449" "0" "c.6449G>A" "r.(?)" "p.(Cys2150Tyr)" "47"
"0000769858" "00001847" "70" "71" "0" "71" "0" "c.71G>A" "r.(?)" "p.(Arg24Cys)" "2"
"0000769859" "00001847" "70" "71" "0" "71" "0" "c.71G>A" "r.(?)" "p.(Arg24Cys)" "2"
"0000769860" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.[(768g>u;768_769ins768+1_768+35)]" "p.(Leu257Valfs*17)" "6"
"0000769861" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.[(768g>u;768_769ins768+1_768+35)]" "p.(Leu257Valfs*17)" "6"
"0000769862" "00001847" "50" "1411" "0" "1411" "0" "c.1411G>A" "r.(?)" "p.(Glu471Lys)" "11"
"0000769863" "00001847" "70" "1531" "0" "1531" "0" "c.1531C>T" "r.(?)" "p.(Arg511Cys)" "11"
"0000769864" "00001847" "90" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.(Met1Val)" "1"
"0000769865" "00001847" "90" "1172" "0" "1172" "0" "c.1172del" "r.(?)" "p.(Lys391Serfs*4)" "9"
"0000769866" "00001847" "90" "1172" "0" "1172" "0" "c.1172del" "r.(?)" "p.(Lys391Serfs*4)" "9"
"0000769867" "00001847" "90" "1172" "0" "1172" "0" "c.1172del" "r.(?)" "p.(Lys391Serfs*4)" "9"
"0000769868" "00001847" "90" "1172" "0" "1172" "0" "c.1172del" "r.(?)" "p.(Lys391Serfs*4)" "9"
"0000769869" "00001847" "50" "1411" "0" "1411" "0" "c.1411G>A" "r.(?)" "p.(Glu471Lys)" "11"
"0000769870" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000769871" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000769872" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000769873" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000769874" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000769875" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000769876" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000769877" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000769878" "00001847" "90" "1714" "0" "1714" "0" "c.1714C>T" "r.(?)" "p.(Arg572*)" "12"
"0000769879" "00001847" "70" "1758" "0" "1758" "0" "c.1758C>A" "r.(?)" "p.(Asp586Glu)" "12"
"0000769880" "00001847" "50" "1846" "0" "1846" "0" "c.1846G>A" "r.(?)" "p.(Glu616Lys)" "13"
"0000769881" "00001847" "70" "1958" "0" "1958" "0" "c.1958G>T" "r.(?)" "p.(Arg653Leu)" "14"
"0000769882" "00001847" "70" "2294" "0" "2294" "0" "c.2294G>A" "r.(?)" "p.(Ser765Asn)" "15"
"0000769883" "00001847" "70" "242" "0" "242" "0" "c.242G>C" "r.(?)" "p.(Cys81Ser)" "3"
"0000769884" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000769885" "00001847" "50" "2791" "0" "2791" "0" "c.2791G>A" "r.(?)" "p.(Val931Met)" "19"
"0000769886" "00001847" "50" "2791" "0" "2791" "0" "c.2791G>A" "r.(?)" "p.(Val931Met)" "19"
"0000769887" "00001847" "50" "2791" "0" "2791" "0" "c.2791G>A" "r.(?)" "p.(Val931Met)" "19"
"0000769888" "00001847" "10" "2828" "0" "2828" "0" "c.2828G>A" "r.(?)" "p.(Arg943Gln)" "19"
"0000769889" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000769890" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000769891" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000769892" "00001847" "70" "3050" "5" "3050" "5" "c.3050+5G>A" "r.2919_3050del" "p.(Leu973_His1017delinsPhe)" "20i"
"0000769893" "00001847" "70" "3050" "5" "3050" "5" "c.3050+5G>A" "r.2919_3050del" "p.(Leu973_His1017delinsPhe)" "20i"
"0000769894" "00001847" "70" "3050" "5" "3050" "5" "c.3050+5G>A" "r.2919_3050del" "p.(Leu973_His1017delinsPhe)" "20i"
"0000769895" "00001847" "70" "3050" "5" "3050" "5" "c.3050+5G>A" "r.2919_3050del" "p.(Leu973_His1017delinsPhe)" "20i"
"0000769896" "00001847" "70" "3050" "5" "3050" "5" "c.3050+5G>A" "r.2919_3050del" "p.(Leu973_His1017delinsPhe)" "20i"
"0000769897" "00001847" "70" "3050" "5" "3050" "5" "c.3050+5G>A" "r.2919_3050del" "p.(Leu973_His1017delinsPhe)" "20i"
"0000769898" "00001847" "70" "3050" "5" "3050" "5" "c.3050+5G>A" "r.2919_3050del" "p.(Leu973_His1017delinsPhe)" "20i"
"0000769899" "00001847" "70" "3050" "5" "3050" "5" "c.3050+5G>A" "r.2919_3050del" "p.(Leu973_His1017delinsPhe)" "20i"
"0000769900" "00001847" "70" "3050" "5" "3050" "5" "c.3050+5G>A" "r.2919_3050del" "p.(Leu973_His1017delinsPhe)" "20i"
"0000769901" "00001847" "90" "3056" "0" "3056" "0" "c.3056C>T" "r.(?)" "p.(Thr1019Met)" "21"
"0000769902" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000769903" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000769904" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000769905" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000769906" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000769907" "00001847" "50" "3449" "0" "3451" "0" "c.3449_3451del" "r.(?)" "p.(Cys1150del)" "23"
"0000769908" "00001847" "70" "3482" "0" "3482" "0" "c.3482G>A" "r.(?)" "p.(Arg1161His)" "23"
"0000769909" "00001847" "70" "3608" "0" "3608" "0" "c.3608G>A" "r.[3608g>a,3608_3813del]" "p.[Gly1203Glu,Gly1203Aspfs*10]" "25"
"0000769910" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000769911" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000769912" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000769913" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000769914" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000769915" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000769916" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000769917" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000769918" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000769919" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000769920" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000769921" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000769922" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000769923" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000769924" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000769925" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000769926" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000769927" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000769928" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000769929" "00001847" "50" "4254" "-15" "4261" "0" "c.4254-15_4261del" "r.(?)" "p.(?)" "28i"
"0000769930" "00001847" "50" "4254" "-15" "4261" "0" "c.4254-15_4261del" "r.(?)" "p.(?)" "28i"
"0000769931" "00001847" "50" "4254" "-15" "4261" "0" "c.4254-15_4261del" "r.(?)" "p.(?)" "28i"
"0000769932" "00001847" "50" "4254" "-15" "4261" "0" "c.4254-15_4261del" "r.(?)" "p.(?)" "28i"
"0000769933" "00001847" "50" "4254" "-15" "4261" "0" "c.4254-15_4261del" "r.(?)" "p.(?)" "28i"
"0000769934" "00001847" "50" "4254" "-15" "4261" "0" "c.4254-15_4261del" "r.(?)" "p.(?)" "28i"
"0000769935" "00001847" "50" "4254" "-15" "4261" "0" "c.4254-15_4261del" "r.(?)" "p.(?)" "28i"
"0000769936" "00001847" "50" "4254" "-15" "4261" "0" "c.4254-15_4261del" "r.(?)" "p.(?)" "28i"
"0000769937" "00001847" "50" "4254" "-15" "4261" "0" "c.4254-15_4261del" "r.(?)" "p.(?)" "28i"
"0000769938" "00001847" "90" "4254" "-1" "4254" "-1" "c.4254-1G>A" "r.spl" "p.?" "28i"
"0000769939" "00001847" "90" "4254" "-1" "4254" "-1" "c.4254-1G>A" "r.spl" "p.?" "28i"
"0000769940" "00001847" "70" "4457" "0" "4457" "0" "c.4457C>T" "r.(?)" "p.(Pro1486Leu)" "30"
"0000769941" "00001847" "70" "4457" "0" "4457" "0" "c.4457C>T" "r.(?)" "p.(Pro1486Leu)" "30"
"0000769942" "00001847" "70" "4457" "0" "4457" "0" "c.4457C>T" "r.(?)" "p.(Pro1486Leu)" "30"
"0000769943" "00001847" "70" "4457" "0" "4457" "0" "c.4457C>T" "r.(?)" "p.(Pro1486Leu)" "30"
"0000769944" "00001847" "70" "452" "0" "452" "0" "c.452T>C" "r.(?)" "p.(Ile151Thr)" "5"
"0000769945" "00001847" "90" "4537" "0" "4537" "0" "c.4537dup" "r.(?)" "p.(Gln1513Profs*42)" "30"
"0000769946" "00001847" "90" "4537" "0" "4537" "0" "c.4537dup" "r.(?)" "p.(Gln1513Profs*42)" "30"
"0000769947" "00001847" "90" "4537" "0" "4537" "0" "c.4537dup" "r.(?)" "p.(Gln1513Profs*42)" "30"
"0000769948" "00001847" "90" "4537" "0" "4537" "0" "c.4537dup" "r.(?)" "p.(Gln1513Profs*42)" "30"
"0000769949" "00001847" "50" "455" "0" "455" "0" "c.455G>A" "r.(?)" "p.(Arg152Gln)" "5"
"0000769950" "00001847" "70" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" "31"
"0000769951" "00001847" "70" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" "31"
"0000769952" "00001847" "70" "4594" "0" "4594" "0" "c.4594G>A" "r.(?)" "p.(Asp1532Asn)" "31"
"0000769953" "00001847" "70" "4793" "0" "4793" "0" "c.4793C>A" "r.(?)" "p.(Ala1598Asp)" "34"
"0000769954" "00001847" "70" "4793" "0" "4793" "0" "c.4793C>A" "r.(?)" "p.(Ala1598Asp)" "34"
"0000769955" "00001847" "70" "4793" "0" "4793" "0" "c.4793C>A" "r.(?)" "p.(Ala1598Asp)" "34"
"0000769956" "00001847" "70" "4854" "0" "4854" "0" "c.4854G>C" "r.(?)" "p.(Trp1618Cys)" "35"
"0000769957" "00001847" "90" "4895" "0" "4895" "0" "c.4895dup" "r.(?)" "p.(Asn1632Lysfs*14)" "35"
"0000769958" "00001847" "70" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" "35"
"0000769959" "00001847" "70" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" "35"
"0000769960" "00001847" "70" "4919" "0" "4919" "0" "c.4919G>A" "r.(?)" "p.(Arg1640Gln)" "35"
"0000769961" "00001847" "70" "4919" "0" "4919" "0" "c.4919G>A" "r.(?)" "p.(Arg1640Gln)" "35"
"0000769962" "00001847" "70" "4919" "0" "4919" "0" "c.4919G>A" "r.(?)" "p.(Arg1640Gln)" "35"
"0000769963" "00001847" "70" "4919" "0" "4919" "0" "c.4919G>A" "r.(?)" "p.(Arg1640Gln)" "35"
"0000769964" "00001847" "70" "4919" "0" "4919" "0" "c.4919G>A" "r.(?)" "p.(Arg1640Gln)" "35"
"0000769965" "00001847" "70" "4919" "0" "4919" "0" "c.4919G>A" "r.(?)" "p.(Arg1640Gln)" "35"
"0000769966" "00001847" "70" "4919" "0" "4919" "0" "c.4919G>A" "r.(?)" "p.(Arg1640Gln)" "35"
"0000769967" "00001847" "70" "4979" "0" "4979" "0" "c.4979C>T" "r.(?)" "p.(Pro1660Leu)" "35"
"0000769968" "00001847" "70" "4979" "0" "4979" "0" "c.4979C>T" "r.(?)" "p.(Pro1660Leu)" "35"
"0000769969" "00001847" "70" "4979" "0" "4979" "0" "c.4979C>T" "r.(?)" "p.(Pro1660Leu)" "35"
"0000769970" "00001847" "70" "4979" "0" "4979" "0" "c.4979C>T" "r.(?)" "p.(Pro1660Leu)" "35"
"0000769971" "00001847" "70" "4979" "0" "4979" "0" "c.4979C>T" "r.(?)" "p.(Pro1660Leu)" "35"
"0000769972" "00001847" "70" "4979" "0" "4979" "0" "c.4979C>T" "r.(?)" "p.(Pro1660Leu)" "35"
"0000769973" "00001847" "70" "4979" "0" "4979" "0" "c.4979C>T" "r.(?)" "p.(Pro1660Leu)" "35"
"0000769974" "00001847" "90" "5059" "0" "5059" "0" "c.5059del" "r.(?)" "p.(Ile1687Phefs*15)" "36"
"0000769975" "00001847" "90" "5059" "0" "5059" "0" "c.5059del" "r.(?)" "p.(Ile1687Phefs*15)" "36"
"0000769976" "00001847" "90" "5059" "0" "5059" "0" "c.5059del" "r.(?)" "p.(Ile1687Phefs*15)" "36"
"0000769977" "00001847" "90" "5059" "0" "5059" "0" "c.5059del" "r.(?)" "p.(Ile1687Phefs*15)" "36"
"0000769978" "00001847" "90" "5059" "0" "5059" "0" "c.5059del" "r.(?)" "p.(Ile1687Phefs*15)" "36"
"0000769979" "00001847" "90" "5059" "0" "5059" "0" "c.5059del" "r.(?)" "p.(Ile1687Phefs*15)" "36"
"0000769980" "00001847" "90" "5059" "0" "5059" "0" "c.5059del" "r.(?)" "p.(Ile1687Phefs*15)" "36"
"0000769981" "00001847" "90" "5169" "0" "5169" "0" "c.5169C>G" "r.(?)" "p.(Tyr1723*)" "36"
"0000769982" "00001847" "90" "5169" "0" "5169" "0" "c.5169C>G" "r.(?)" "p.(Tyr1723*)" "36"
"0000769983" "00001847" "90" "5189" "0" "5189" "0" "c.5189G>A" "r.(?)" "p.(Trp1730*)" "36"
"0000769984" "00001847" "90" "5196" "1" "5196" "1" "c.5196+1G>A" "r.spl" "p.?" "36i"
"0000769985" "00001847" "90" "5312" "1" "5312" "1" "c.5312+1G>A" "r.spl" "p.?" "37i"
"0000769986" "00001847" "70" "5318" "0" "5318" "0" "c.5318C>T" "r.(?)" "p.(Ala1773Val)" "38"
"0000769987" "00001847" "70" "5318" "0" "5318" "0" "c.5318C>T" "r.(?)" "p.(Ala1773Val)" "38"
"0000769988" "00001847" "70" "5318" "0" "5318" "0" "c.5318C>T" "r.(?)" "p.(Ala1773Val)" "38"
"0000769989" "00001847" "90" "5333" "0" "5336" "0" "c.5333_5336del" "r.(?)" "p.(Met1778Thrfs*51)" "38"
"0000769990" "00001847" "70" "5351" "0" "5351" "0" "c.5351T>G" "r.(?)" "p.(Leu1784Arg)" "38"
"0000769991" "00001847" "70" "5351" "0" "5351" "0" "c.5351T>G" "r.(?)" "p.(Leu1784Arg)" "38"
"0000769992" "00001847" "70" "5351" "0" "5351" "0" "c.5351T>G" "r.(?)" "p.(Leu1784Arg)" "38"
"0000769993" "00001847" "70" "5351" "0" "5351" "0" "c.5351T>G" "r.(?)" "p.(Leu1784Arg)" "38"
"0000769994" "00001847" "70" "5351" "0" "5351" "0" "c.5351T>G" "r.(?)" "p.(Leu1784Arg)" "38"
"0000769995" "00001847" "70" "5380" "0" "5380" "0" "c.5380G>C" "r.(?)" "p.(Ala1794Pro)" "38"
"0000769996" "00001847" "70" "5380" "0" "5380" "0" "c.5380G>C" "r.(?)" "p.(Ala1794Pro)" "38"
"0000769997" "00001847" "70" "5380" "0" "5380" "0" "c.5380G>C" "r.(?)" "p.(Ala1794Pro)" "38"
"0000769998" "00001847" "70" "5380" "0" "5380" "0" "c.5380G>C" "r.(?)" "p.(Ala1794Pro)" "38"
"0000769999" "00001847" "70" "5380" "0" "5380" "0" "c.5380G>C" "r.(?)" "p.(Ala1794Pro)" "38"
"0000770000" "00001847" "70" "5380" "0" "5380" "0" "c.5380G>C" "r.(?)" "p.(Ala1794Pro)" "38"
"0000770001" "00001847" "70" "5380" "0" "5380" "0" "c.5380G>C" "r.(?)" "p.(Ala1794Pro)" "38"
"0000770002" "00001847" "70" "5380" "0" "5380" "0" "c.5380G>C" "r.(?)" "p.(Ala1794Pro)" "38"
"0000770003" "00001847" "70" "5380" "0" "5380" "0" "c.5380G>C" "r.(?)" "p.(Ala1794Pro)" "38"
"0000770004" "00001847" "70" "5380" "0" "5380" "0" "c.5380G>C" "r.(?)" "p.(Ala1794Pro)" "38"
"0000770005" "00001847" "70" "5380" "0" "5380" "0" "c.5380G>C" "r.(?)" "p.(Ala1794Pro)" "38"
"0000770006" "00001847" "70" "5380" "0" "5380" "0" "c.5380G>C" "r.(?)" "p.(Ala1794Pro)" "38"
"0000770007" "00001847" "70" "5380" "0" "5380" "0" "c.5380G>C" "r.(?)" "p.(Ala1794Pro)" "38"
"0000770008" "00001847" "70" "5380" "0" "5380" "0" "c.5380G>C" "r.(?)" "p.(Ala1794Pro)" "38"
"0000770009" "00001847" "70" "5380" "0" "5380" "0" "c.5380G>C" "r.(?)" "p.(Ala1794Pro)" "38"
"0000770010" "00001847" "90" "5460" "1" "5460" "1" "c.5460+1G>A" "r.spl" "p.?" "38i"
"0000770011" "00001847" "90" "5460" "1" "5460" "1" "c.5460+1G>A" "r.spl" "p.?" "38i"
"0000770012" "00001847" "90" "5460" "1" "5460" "1" "c.5460+1G>A" "r.spl" "p.?" "38i"
"0000770013" "00001847" "90" "5460" "1" "5460" "1" "c.5460+1G>A" "r.spl" "p.?" "38i"
"0000770014" "00001847" "90" "5460" "1" "5460" "1" "c.5460+1G>A" "r.spl" "p.?" "38i"
"0000770015" "00001847" "90" "5460" "1" "5460" "1" "c.5460+1G>A" "r.spl" "p.?" "38i"
"0000770016" "00001847" "90" "5460" "1" "5460" "1" "c.5460+1G>A" "r.spl" "p.?" "38i"
"0000770017" "00001847" "90" "5460" "1" "5460" "1" "c.5460+1G>A" "r.spl" "p.?" "38i"
"0000770018" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000770019" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000770020" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000770021" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000770022" "00001847" "50" "5822" "0" "5822" "0" "c.5822A>C" "r.(?)" "p.(His1941Pro)" "41"
"0000770023" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000770024" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000770025" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000770026" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000770027" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000770028" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000770029" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000770030" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000770031" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000770032" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000770033" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000770034" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000770035" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000770036" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000770037" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000770038" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000770039" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000770040" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000770041" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000770042" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000770043" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000770044" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000770045" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000770046" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000770047" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000770048" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000770049" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000770050" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000770051" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000770052" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000770053" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000770054" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000770055" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000770056" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000770057" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000770058" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000770059" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000770060" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000770061" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000770062" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000770063" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000770064" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000770065" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000770066" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000770067" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000770068" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000770069" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000770070" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000770071" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000770072" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000770073" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000770074" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000770075" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000770076" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000770077" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000770078" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000770079" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000770080" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000770081" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000770082" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000770083" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000770084" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000770085" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000770086" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000770087" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000770088" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000770089" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000770090" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000770091" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000770092" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000770093" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000770094" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000770095" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000770096" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000770097" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000770098" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000770099" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000770100" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000770101" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000770102" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000770103" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000770104" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000770105" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000770106" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000770107" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000770108" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000770109" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000770110" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000770111" "00001847" "90" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973*)" "43"
"0000770112" "00001847" "70" "5929" "0" "5929" "0" "c.5929G>A" "r.(?)" "p.(Gly1977Ser)" "43"
"0000770113" "00001847" "90" "6077" "0" "6077" "0" "c.6077del" "r.(?)" "p.(Leu2026Argfs*35)" "44"
"0000770114" "00001847" "90" "6077" "0" "6077" "0" "c.6077del" "r.(?)" "p.(Leu2026Argfs*35)" "44"
"0000770115" "00001847" "90" "6077" "0" "6077" "0" "c.6077del" "r.(?)" "p.(Leu2026Argfs*35)" "44"
"0000770116" "00001847" "90" "6077" "0" "6077" "0" "c.6077del" "r.(?)" "p.(Leu2026Argfs*35)" "44"
"0000770117" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000770118" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000770119" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000770120" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000770121" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000770122" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000770123" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000770124" "00001847" "70" "6386" "0" "6386" "0" "c.6386G>A" "r.spl?" "p.(Ser2129Asn)" "46"
"0000770125" "00001847" "70" "6563" "0" "6563" "0" "c.6563T>C" "r.(?)" "p.(Phe2188Ser)" "48"
"0000770126" "00001847" "70" "6563" "0" "6563" "0" "c.6563T>C" "r.(?)" "p.(Phe2188Ser)" "48"
"0000770127" "00001847" "70" "6563" "0" "6563" "0" "c.6563T>C" "r.(?)" "p.(Phe2188Ser)" "48"
"0000770128" "00001847" "70" "6563" "0" "6563" "0" "c.6563T>C" "r.(?)" "p.(Phe2188Ser)" "48"
"0000770129" "00001847" "70" "6563" "0" "6563" "0" "c.6563T>C" "r.(?)" "p.(Phe2188Ser)" "48"
"0000770130" "00001847" "70" "6563" "0" "6563" "0" "c.6563T>C" "r.(?)" "p.(Phe2188Ser)" "48"
"0000770131" "00001847" "90" "834" "0" "834" "0" "c.834del" "r.(?)" "p.(Asp279Ilefs*21)" "7"
"0000770132" "00001847" "90" "834" "0" "834" "0" "c.834del" "r.(?)" "p.(Asp279Ilefs*21)" "7"
"0000770133" "00001847" "90" "834" "0" "834" "0" "c.834del" "r.(?)" "p.(Asp279Ilefs*21)" "7"
"0000770134" "00001847" "90" "834" "0" "834" "0" "c.834del" "r.(?)" "p.(Asp279Ilefs*21)" "7"
"0000770135" "00001847" "90" "834" "0" "834" "0" "c.834del" "r.(?)" "p.(Asp279Ilefs*21)" "7"
"0000770136" "00001847" "90" "2409" "0" "2410" "0" "c.2409_2410del" "r.(?)" "p.(Phe804Trpfs*3)" "16"
"0000770137" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.[(768g>u;768_769ins768+1_768+35)]" "p.(Leu257Valfs*17)" "6"
"0000770138" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.[(768g>u;768_769ins768+1_768+35)]" "p.(Leu257Valfs*17)" "6"
"0000770139" "00001847" "90" "4773" "1" "4773" "1" "c.4773+1G>A" "r.spl" "p.?" "33i"
"0000770140" "00001847" "90" "4773" "1" "4773" "1" "c.4773+1G>A" "r.spl" "p.?" "33i"
"0000770141" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000770142" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000770143" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.[(768g>u;768_769ins768+1_768+35)]" "p.(Leu257Valfs*17)" "6"
"0000770144" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.[(768g>u;768_769ins768+1_768+35)]" "p.(Leu257Valfs*17)" "6"
"0000770145" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.[(768g>u;768_769ins768+1_768+35)]" "p.(Leu257Valfs*17)" "6"
"0000770146" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.[(768g>u;768_769ins768+1_768+35)]" "p.(Leu257Valfs*17)" "6"
"0000770147" "00001847" "90" "2409" "0" "2410" "0" "c.2409_2410del" "r.(?)" "p.(Phe804Trpfs*3)" "16"
"0000770148" "00001847" "90" "5762" "0" "5763" "0" "c.5762_5763dup" "r.(?)" "p.(Ala1922Trpfs*18)" "41"
"0000770149" "00001847" "90" "5762" "0" "5763" "0" "c.5762_5763dup" "r.(?)" "p.(Ala1922Trpfs*18)" "41"
"0000770150" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.[(768g>u;768_769ins768+1_768+35)]" "p.(Leu257Valfs*17)" "6"
"0000770151" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.[(768g>u;768_769ins768+1_768+35)]" "p.(Leu257Valfs*17)" "6"
"0000770152" "00001847" "90" "3259" "0" "3259" "0" "c.3259G>A" "r.(?)" "p.(Glu1087Lys)" "22"
"0000770153" "00001847" "90" "3259" "0" "3259" "0" "c.3259G>A" "r.(?)" "p.(Glu1087Lys)" "22"
"0000770154" "00001847" "70" "5537" "0" "5537" "0" "c.5537T>C" "r.(?)" "p.(Ile1846Thr)" "39"
"0000770155" "00001847" "70" "5537" "0" "5537" "0" "c.5537T>C" "r.(?)" "p.(Ile1846Thr)" "39"
"0000770156" "00001847" "90" "2409" "0" "2410" "0" "c.2409_2410del" "r.(?)" "p.(Phe804Trpfs*3)" "16"
"0000770157" "00001847" "70" "5537" "0" "5537" "0" "c.5537T>C" "r.(?)" "p.(Ile1846Thr)" "39"
"0000770158" "00001847" "70" "5537" "0" "5537" "0" "c.5537T>C" "r.(?)" "p.(Ile1846Thr)" "39"
"0000770159" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.[(768g>u;768_769ins768+1_768+35)]" "p.(Leu257Valfs*17)" "6"
"0000770160" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.[(768g>u;768_769ins768+1_768+35)]" "p.(Leu257Valfs*17)" "6"
"0000770161" "00001847" "70" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.[=,5196_5197ins5196+1140_5196+1212]" "p.[=,Met1733Glufs*78]" "36i"
"0000770162" "00001847" "70" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.[=,5196_5197ins5196+1140_5196+1212]" "p.[=,Met1733Glufs*78]" "36i"
"0000770163" "00001847" "90" "443" "-1" "570" "1" "c.(442+1_443-1)_(570+1_571-1)del" "r.(?)" "p.(Gly148Valfs?89)" "4i_5i"
"0000770164" "00001847" "90" "443" "-1" "570" "1" "c.(442+1_443-1)_(570+1_571-1)del" "r.(?)" "p.(Gly148Valfs?89)" "4i_5i"
"0000770165" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000770166" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000770167" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000770168" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000770169" "00001847" "90" "3522" "1" "3522" "1" "c.3522+1G>A" "r.spl" "p.?" "23i"
"0000770170" "00001847" "70" "6563" "0" "6563" "0" "c.6563T>C" "r.(?)" "p.(Phe2188Ser)" "48"
"0000770171" "00001847" "50" "6389" "0" "6389" "0" "c.6389T>A" "r.(?)" "p.(Met2130Lys)" "47"
"0000770172" "00001847" "70" "1099" "5" "1099" "5" "c.1099+5G>A" "r.(spl)" "p.?" "8i"
"0000770173" "00001847" "70" "2261" "0" "2261" "0" "c.2261T>C" "r.(?)" "p.(Phe754Ser)" "15"
"0000770174" "00001847" "90" "4853" "0" "4853" "0" "c.4853G>A" "r.(?)" "p.(Trp1618*)" "35"
"0000770175" "00001847" "90" "2177" "0" "2177" "0" "c.2177del" "r.(?)" "p.(His726Leufs*61)" "15"
"0000770176" "00001847" "70" "2261" "0" "2261" "0" "c.2261T>C" "r.(?)" "p.(Phe754Ser)" "15"
"0000770177" "00001847" "70" "1906" "0" "1906" "0" "c.1906C>A" "r.(?)" "p.(Gln636Lys)" "13"
"0000770178" "00001847" "70" "1372" "0" "1372" "0" "c.1372C>T" "r.(?)" "p.(Pro458Ser)" "11"
"0000770179" "00001847" "50" "5761" "0" "5761" "0" "c.5761G>A" "r.(?)" "p.(Val1921Met)" "41"
"0000770180" "00001847" "70" "5327" "0" "5327" "0" "c.5327C>T" "r.(?)" "p.(Pro1776Leu)" "38"
"0000770181" "00001847" "90" "6148" "-2" "6148" "-2" "c.6148-2A>T" "r.spl" "p.?" "44i"
"0000770182" "00001847" "70" "5527" "0" "5527" "0" "c.5527C>T" "r.(?)" "p.(Arg1843Trp)" "39"
"0000770183" "00001847" "90" "5100" "0" "5100" "0" "c.5100T>G" "r.(?)" "p.(Tyr1700*)" "36"
"0000770184" "00001847" "90" "6625" "0" "6625" "0" "c.6625C>T" "r.(?)" "p.(Gln2209*)" "48"
"0000770185" "00001847" "90" "6625" "0" "6625" "0" "c.6625C>T" "r.(?)" "p.(Gln2209*)" "48"
"0000770186" "00001847" "90" "4383" "0" "4383" "0" "c.4383G>A" "r.(?)" "p.(Trp1461*)" "30"
"0000770187" "00001847" "90" "4383" "0" "4383" "0" "c.4383G>A" "r.(?)" "p.(Trp1461*)" "30"
"0000770188" "00001847" "70" "290" "0" "290" "0" "c.290A>G" "r.(?)" "p.(Tyr97Cys)" "3"
"0000770189" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000770190" "00001847" "90" "6282" "1" "6282" "1" "c.6282+1G>A" "r.spl" "p.?" "45i"
"0000770191" "00001847" "70" "3377" "0" "3377" "0" "c.3377T>G" "r.(?)" "p.(Leu1126Arg)" "23"
"0000770192" "00001847" "90" "1561" "0" "1561" "0" "c.1561del" "r.(?)" "p.(Val521Serfs*47)" "12"
"0000770193" "00001847" "90" "1761" "-2" "1761" "-2" "c.1761-2A>G" "r.spl" "p.?" "13"
"0000770194" "00001847" "90" "1938" "-2" "1938" "-2" "c.1938-2A>G" "r.spl" "p.?" "13i"
"0000770195" "00001847" "90" "1561" "0" "1561" "0" "c.1561del" "r.(?)" "p.(Val521Serfs*47)" "12"
"0000770196" "00001847" "90" "4157" "0" "4157" "0" "c.4157del" "r.(?)" "p.(Leu1386Trpfs*3)" "28"
"0000770197" "00001847" "70" "1892" "0" "1892" "0" "c.1892G>T" "r.(?)" "p.(Gly631Val)" "13"
"0000770198" "00001847" "70" "983" "0" "983" "0" "c.983A>T" "r.(?)" "p.(Glu328Val)" "8"
"0000770199" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000770200" "00001847" "50" "101" "0" "106" "0" "c.101_106del" "r.(?)" "p.(Ser34_Leu35del)" "2"
"0000770201" "00001847" "90" "4561" "0" "4561" "0" "c.4561del" "r.(?)" "p.(Ile1521Phefs*5)" "31"
"0000770202" "00001847" "90" "428" "0" "428" "0" "c.428del" "r.(?)" "p.(Pro143Argfs*11)" "4"
"0000770203" "00001847" "70" "3420" "0" "3420" "0" "c.3420C>G" "r.(?)" "p.(Cys1140Trp)" "23"
"0000770204" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000770205" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000770206" "00001847" "70" "5646" "0" "5646" "0" "c.5646G>A" "r.(?)" "p.(Met1882Ile)" "40"
"0000770207" "00001847" "70" "5584" "0" "5584" "0" "c.5584G>C" "r.5461_5714del" "p.(Thr1821Aspfs*6)" "39"
"0000770208" "00001847" "90" "2424" "0" "2424" "0" "c.2424C>G" "r.(?)" "p.(Tyr808*)" "16"
"0000770209" "00001847" "90" "1382" "0" "1383" "0" "c.1382_1383del" "r.(?)" "p.(Lys461Argfs*5)" "11"
"0000770210" "00001847" "50" "101" "0" "106" "0" "c.101_106del" "r.(?)" "p.(Ser34_Leu35del)" "2"
"0000770211" "00001847" "70" "3304" "0" "3304" "0" "c.3304G>T" "r.(?)" "p.(Asp1102Tyr)" "22"
"0000770212" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000770213" "00001847" "90" "2063" "0" "2063" "0" "c.2063dup" "r.(?)" "p.(Asn688Lysfs*78)" "14"
"0000770214" "00001847" "90" "5196" "1" "5196" "1" "c.5196+1G>A" "r.spl" "p.?" "36i"
"0000770215" "00001847" "50" "2023" "0" "2023" "0" "c.2023G>A" "r.(?)" "p.(Val675Ile)" "14"
"0000770216" "00001847" "90" "1017" "0" "1017" "0" "c.1017G>A" "r.(?)" "p.(Trp339*)" "8"
"0000770217" "00001847" "70" "4919" "0" "4919" "0" "c.4919G>A" "r.(?)" "p.(Arg1640Gln)" "35"
"0000770218" "00001847" "90" "1006" "0" "1006" "0" "c.1006del" "r.(?)" "p.(Ser336Profs*38)" "8"
"0000770219" "00001847" "50" "1933" "0" "1933" "0" "c.1933G>A" "r.(?)" "p.(Asp645Asn)" "13"
"0000770220" "00001847" "90" "1761" "-2" "1761" "-2" "c.1761-2A>G" "r.spl" "p.?" "13"
"0000770221" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000770222" "00001847" "70" "6563" "0" "6563" "0" "c.6563T>C" "r.(?)" "p.(Phe2188Ser)" "48"
"0000770223" "00001847" "70" "4253" "5" "4253" "5" "c.4253+5G>A" "r.4129_4253del" "p.(Ile1377Hisfs*3)" "28i"
"0000770224" "00001847" "70" "3086" "0" "3086" "0" "c.3086A>C" "r.(?)" "p.(Gln1029Pro)" "21"
"0000770225" "00001847" "70" "3476" "0" "3476" "0" "c.3476T>C" "r.(?)" "p.(Leu1159Ser)" "23"
"0000770226" "00001847" "70" "167" "0" "167" "0" "c.167T>G" "r.(?)" "p.(Phe56Cys)" "3"
"0000770227" "00001847" "50" "1933" "0" "1933" "0" "c.1933G>A" "r.(?)" "p.(Asp645Asn)" "13"
"0000770228" "00001847" "70" "5092" "0" "5092" "0" "c.5092G>T" "r.(?)" "p.(Val1698Phe)" "36"
"0000770229" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000770230" "00001847" "50" "5761" "0" "5761" "0" "c.5761G>A" "r.(?)" "p.(Val1921Met)" "41"
"0000770231" "00001847" "70" "286" "0" "286" "0" "c.286A>G" "r.(?)" "p.(Asn96Asp)" "3"
"0000770232" "00001847" "70" "5646" "0" "5646" "0" "c.5646G>A" "r.(?)" "p.(Met1882Ile)" "40"
"0000770233" "00001847" "50" "6190" "0" "6190" "0" "c.6190G>A" "r.(?)" "p.(Ala2064Thr)" "45"
"0000770234" "00001847" "70" "3634" "0" "3634" "0" "c.3634G>T" "r.(?)" "p.(Val1212Phe)" "25"
"0000770235" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000770236" "00001847" "90" "6694" "0" "6694" "0" "c.6694G>T" "r.(?)" "p.(Glu2232*)" "48"
"0000770237" "00001847" "70" "1982" "0" "1982" "0" "c.1982T>G" "r.(?)" "p.(Leu661Arg)" "14"
"0000770238" "00001847" "70" "1892" "0" "1892" "0" "c.1892G>T" "r.(?)" "p.(Gly631Val)" "13"
"0000770239" "00001847" "70" "6112" "0" "6112" "0" "c.6112C>T" "r.(?)" "p.(Arg2038Trp)" "44"
"0000770240" "00001847" "70" "6563" "0" "6563" "0" "c.6563T>C" "r.(?)" "p.(Phe2188Ser)" "48"
"0000770241" "00001847" "90" "6118" "0" "6118" "0" "c.6118C>T" "r.(?)" "p.(Arg2040*)" "44"
"0000770242" "00001847" "50" "3777" "0" "3777" "0" "c.3777C>G" "r.(?)" "p.(Leu1259=)" "25"
"0000770243" "00001847" "90" "5935" "0" "5935" "0" "c.5935del" "r.(?)" "p.(Thr1979Glnfs*13)" "43"
"0000770244" "00001847" "90" "1017" "0" "1017" "0" "c.1017G>A" "r.(?)" "p.(Trp339*)" "8"
"0000770245" "00001847" "90" "6286" "0" "6286" "0" "c.6286G>A" "r.(?)" "p.(Glu2096Lys)" "46"
"0000770246" "00001847" "70" "6112" "0" "6112" "0" "c.6112C>T" "r.(?)" "p.(Arg2038Trp)" "44"
"0000770247" "00001847" "70" "3055" "0" "3055" "0" "c.3055A>G" "r.(?)" "p.(Thr1019Ala)" "21"
"0000770248" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000770249" "00001847" "90" "1819" "0" "1819" "0" "c.1819G>A" "r.(?)" "p.(Gly607Arg)" "13"
"0000770250" "00001847" "90" "1382" "0" "1383" "0" "c.1382_1383del" "r.(?)" "p.(Lys461Argfs*5)" "11"
"0000770251" "00001847" "50" "298" "0" "298" "0" "c.298T>C" "r.(?)" "p.(Ser100Pro)" "3"
"0000770252" "00001847" "70" "4316" "0" "4316" "0" "c.4316G>T" "r.(?)" "p.(Gly1439Val)" "29"
"0000770253" "00001847" "70" "4610" "0" "4610" "0" "c.4610C>T" "r.(?)" "p.(Thr1537Met)" "31"
"0000770254" "00001847" "70" "6788" "0" "6788" "0" "c.6788G>T" "r.(?)" "p.(Arg2263Leu)" "49"
"0000770255" "00001847" "50" "6289" "0" "6289" "0" "c.6289C>T" "r.(?)" "p.(Pro2097Ser)" "46"
"0000770256" "00001847" "70" "5915" "0" "5915" "0" "c.5915G>A" "r.(?)" "p.(Gly1972Glu)" "43"
"0000770257" "00001847" "70" "1229" "0" "1229" "0" "c.1229T>C" "r.(?)" "p.(Ile410Thr)" "9"
"0000770258" "00001847" "50" "1522" "0" "1522" "0" "c.1522C>T" "r.(?)" "p.(Arg508Cys)" "11"
"0000770259" "00001847" "90" "2177" "0" "2177" "0" "c.2177del" "r.(?)" "p.(His726Leufs*61)" "15"
"0000770260" "00001847" "70" "2261" "0" "2261" "0" "c.2261T>C" "r.(?)" "p.(Phe754Ser)" "15"
"0000770261" "00001847" "90" "2774" "0" "2774" "0" "c.2774G>A" "r.(?)" "p.(Trp925*)" "19"
"0000770262" "00001847" "70" "3089" "0" "3089" "0" "c.3089T>G" "r.(?)" "p.(Leu1030Arg)" "21"
"0000770263" "00001847" "90" "3212" "0" "3212" "0" "c.3212C>A" "r.(?)" "p.(Ser1071*)" "22"
"0000770264" "00001847" "70" "3323" "0" "3323" "0" "c.3323G>A" "r.(?)" "p.(Arg1108His)" "22"
"0000770265" "00001847" "70" "3482" "0" "3482" "0" "c.3482G>A" "r.(?)" "p.(Arg1161His)" "23"
"0000770266" "00001847" "90" "3522" "1" "3522" "1" "c.3522+1G>A" "r.spl" "p.?" "23i"
"0000770267" "00001847" "70" "3634" "0" "3634" "0" "c.3634G>T" "r.(?)" "p.(Val1212Phe)" "25"
"0000770268" "00001847" "70" "4253" "5" "4253" "5" "c.4253+5G>A" "r.4129_4253del" "p.(Ile1377Hisfs*3)" "28i"
"0000770269" "00001847" "70" "4253" "4" "4253" "4" "c.4253+4C>T" "r.4129_4253del" "p.(Ile1377Hisfs*3)" "28i"
"0000770270" "00001847" "90" "4383" "0" "4383" "0" "c.4383G>A" "r.(?)" "p.(Trp1461*)" "30"
"0000770271" "00001847" "90" "4561" "0" "4561" "0" "c.4561del" "r.(?)" "p.(Ile1521Phefs*5)" "31"
"0000770272" "00001847" "90" "4853" "0" "4853" "0" "c.4853G>A" "r.(?)" "p.(Trp1618*)" "35"
"0000770273" "00001847" "70" "4855" "0" "4855" "0" "c.4855T>C" "r.(?)" "p.(Phe1619Leu)" "35"
"0000770274" "00001847" "90" "5100" "0" "5100" "0" "c.5100T>G" "r.(?)" "p.(Tyr1700*)" "36"
"0000770275" "00001847" "70" "5460" "4" "5460" "4" "c.5460+4A>T" "r.(spl)" "p.?" "38i"
"0000770276" "00001847" "70" "5527" "0" "5527" "0" "c.5527C>T" "r.(?)" "p.(Arg1843Trp)" "39"
"0000770277" "00001847" "70" "5915" "0" "5915" "0" "c.5915G>A" "r.(?)" "p.(Gly1972Glu)" "43"
"0000770278" "00001847" "90" "6148" "-2" "6148" "-2" "c.6148-2A>T" "r.spl" "p.?" "44i"
"0000770279" "00001847" "90" "6282" "1" "6282" "1" "c.6282+1G>A" "r.spl" "p.?" "45i"
"0000770280" "00001847" "90" "6286" "0" "6286" "0" "c.6286G>A" "r.(?)" "p.(Glu2096Lys)" "46"
"0000770281" "00001847" "90" "6445" "0" "6445" "0" "c.6445C>T" "r.(?)" "p.(Arg2149*)" "47"
"0000770282" "00001847" "90" "6625" "0" "6625" "0" "c.6625C>T" "r.(?)" "p.(Gln2209*)" "48"
"0000770283" "00001847" "90" "553" "0" "553" "0" "c.553C>T" "r.(?)" "p.(Gln185*)" "5"
"0000770284" "00001847" "90" "553" "0" "553" "0" "c.553C>T" "r.(?)" "p.(Gln185*)" "5"
"0000770285" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000770286" "00001847" "10" "3602" "0" "3602" "0" "c.3602T>G" "r.(?)" "p.(Leu1201Arg)" "24"
"0000770287" "00001847" "70" "4793" "0" "4793" "0" "c.4793C>A" "r.(?)" "p.(Ala1598Asp)" "34"
"0000770288" "00001847" "90" "2099" "0" "2099" "0" "c.2099G>A" "r.(?)" "p.(Trp700*)" "14"
"0000770289" "00001847" "50" "2690" "0" "2690" "0" "c.2690C>T" "r.(?)" "p.(Thr897Ile)" "18"
"0000770290" "00001847" "90" "5018" "2" "5018" "2" "c.5018+2T>C" "r.spl" "p.?" "35i"
"0000770291" "00001847" "50" "2690" "0" "2690" "0" "c.2690C>T" "r.(?)" "p.(Thr897Ile)" "18"
"0000770292" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000770293" "00001847" "90" "61" "0" "61" "0" "c.61C>T" "r.(?)" "p.(Gln21*)" "1"
"0000770294" "00001847" "70" "2461" "0" "2461" "0" "c.2461T>A" "r.(?)" "p.(Trp821Arg)" "16"
"0000770295" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.[(768g>u;768_769ins768+1_768+35)]" "p.(Leu257Valfs*17)" "6"
"0000770296" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000770297" "00001847" "70" "2929" "0" "2929" "0" "c.2929A>C" "r.(?)" "p.(Thr977Pro)" "20"
"0000770298" "00001847" "50" "5065" "0" "5065" "0" "c.5065T>C" "r.(?)" "p.(Ser1689Pro)" "36"
"0000770299" "00001847" "90" "4711" "0" "4711" "0" "c.4711del" "r.(?)" "p.(Ile1571Serfs*10)" "33"
"0000770300" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000770301" "00001847" "50" "455" "0" "455" "0" "c.455G>A" "r.(?)" "p.(Arg152Gln)" "5"
"0000770302" "00001847" "90" "4200" "0" "4200" "0" "c.4200C>A" "r.(?)" "p.(Tyr1400*)" "28"
"0000770303" "00001847" "70" "52" "0" "52" "0" "c.52C>T" "r.(?)" "p.(Arg18Trp)" "1"
"0000770304" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000770305" "00001847" "50" "2791" "0" "2791" "0" "c.2791G>A" "r.(?)" "p.(Val931Met)" "19"
"0000770306" "00001847" "90" "5018" "2" "5018" "2" "c.5018+2T>C" "r.spl" "p.?" "35i"
"0000770307" "00001847" "70" "52" "0" "52" "0" "c.52C>T" "r.(?)" "p.(Arg18Trp)" "1"
"0000770308" "00001847" "90" "1937" "1" "1937" "1" "c.1937+1G>A" "r.spl" "p.?" "13i"
"0000770309" "00001847" "70" "3323" "0" "3323" "0" "c.3323G>A" "r.(?)" "p.(Arg1108His)" "22"
"0000770310" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000770311" "00001847" "70" "2549" "0" "2549" "0" "c.2549A>G" "r.(?)" "p.(Tyr850Cys)" "16"
"0000770312" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000770313" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000770314" "00001847" "70" "1958" "0" "1958" "0" "c.1958G>A" "r.(?)" "p.(Arg653His)" "14"
"0000770315" "00001847" "70" "1958" "0" "1958" "0" "c.1958G>A" "r.(?)" "p.(Arg653His)" "14"
"0000770316" "00001847" "90" "4720" "0" "4720" "0" "c.4720G>T" "r.(?)" "p.(Glu1574*)" "33"
"0000770317" "00001847" "70" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" "31"
"0000770318" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000770319" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000770320" "00001847" "90" "1761" "-2" "1761" "-2" "c.1761-2A>G" "r.spl" "p.?" "13"
"0000770321" "00001847" "90" "1561" "0" "1561" "0" "c.1561del" "r.(?)" "p.(Val521Serfs*47)" "12"
"0000770322" "00001847" "90" "6118" "0" "6118" "0" "c.6118C>T" "r.(?)" "p.(Arg2040*)" "44"
"0000770323" "00001847" "50" "101" "0" "106" "0" "c.101_106del" "r.(?)" "p.(Ser34_Leu35del)" "2"
"0000770324" "00001847" "90" "4429" "0" "4429" "0" "c.4429C>T" "r.(?)" "p.(Gln1477*)" "30"
"0000770325" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000770326" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000770327" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000770328" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000770329" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000770330" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000770331" "00001847" "70" "3623" "0" "3623" "0" "c.3623T>G" "r.(?)" "p.(Leu1208Arg)" "25"
"0000770332" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000770333" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000770334" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000770335" "00001847" "90" "4567" "0" "4567" "0" "c.4567C>T" "r.(?)" "p.(Gln1523*)" "31"
"0000770336" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000770337" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000770338" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000770339" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000770340" "00001847" "70" "3383" "0" "3383" "0" "c.3383A>G" "r.(?)" "p.(Asp1128Gly)" "23"
"0000770341" "00001847" "50" "6148" "0" "6148" "0" "c.6148G>C" "r.=" "p.(Val2050Leu)" "45"
"0000770342" "00001847" "70" "5819" "0" "5819" "0" "c.5819T>C" "r.(?)" "p.(Leu1940Pro)" "41"
"0000770343" "00001847" "70" "6221" "0" "6221" "0" "c.6221G>T" "r.(?)" "p.(Gly2074Val)" "45"
"0000770344" "00001847" "70" "4919" "0" "4919" "0" "c.4919G>A" "r.(?)" "p.(Arg1640Gln)" "35"
"0000770345" "00001847" "90" "1417" "0" "1420" "0" "c.1417_1420dup" "r.(?)" "p.(Thr474Asnfs*4)" "11"
"0000770408" "00001847" "90" "2041" "0" "2041" "0" "c.2041C>T" "r.(?)" "p.(Arg681*)" "14"
"0000770409" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000770410" "00001847" "70" "4462" "0" "4462" "0" "c.4462T>C" "r.(?)" "p.(Cys1488Arg)" "30"
"0000770411" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000770412" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000770413" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000770414" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000770415" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000770416" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000770417" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000770418" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000770419" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000770420" "00001847" "50" "5413" "0" "5413" "0" "c.5413A>G" "r.(?)" "p.(Asn1805Asp)" "38"
"0000770421" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000770422" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000770423" "00001847" "90" "2692" "0" "2692" "0" "c.2692G>T" "r.(?)" "p.(Glu898*)" "18"
"0000770424" "00001847" "70" "4610" "0" "4610" "0" "c.4610C>T" "r.(?)" "p.(Thr1537Met)" "31"
"0000770425" "00001847" "70" "2932" "0" "2932" "0" "c.2932G>A" "r.(?)" "p.(Gly978Ser)" "20"
"0000770426" "00001847" "90" "5196" "2" "5196" "2" "c.5196+2T>C" "r.spl" "p.?" "36i"
"0000770427" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000770428" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000770429" "00001847" "90" "5196" "2" "5196" "2" "c.5196+2T>C" "r.spl" "p.?" "36i"
"0000770430" "00001847" "90" "5196" "2" "5196" "2" "c.5196+2T>C" "r.spl" "p.?" "36i"
"0000770431" "00001847" "90" "6146" "0" "6146" "0" "c.6146del" "r.(?)" "p.(Lys2049Argfs*12)" "44"
"0000770432" "00001847" "90" "6146" "0" "6146" "0" "c.6146del" "r.(?)" "p.(Lys2049Argfs*12)" "44"
"0000770433" "00001847" "70" "4762" "0" "4762" "0" "c.4762A>T" "r.(?)" "p.(Asn1588Tyr)" "33"
"0000770434" "00001847" "70" "3420" "0" "3420" "0" "c.3420C>G" "r.(?)" "p.(Cys1140Trp)" "23"
"0000770435" "00001847" "70" "3420" "0" "3420" "0" "c.3420C>G" "r.(?)" "p.(Cys1140Trp)" "23"
"0000770436" "00001847" "90" "3470" "0" "3470" "0" "c.3470T>G" "r.(?)" "p.(Leu1157*)" "23"
"0000770437" "00001847" "70" "4762" "0" "4762" "0" "c.4762A>T" "r.(?)" "p.(Asn1588Tyr)" "33"
"0000770438" "00001847" "70" "575" "0" "575" "0" "c.575C>T" "r.(?)" "p.(Ala192Val)" "6"
"0000770439" "00001847" "70" "1906" "0" "1906" "0" "c.1906C>A" "r.(?)" "p.(Gln636Lys)" "13"
"0000770440" "00001847" "70" "4748" "0" "4748" "0" "c.4748T>C" "r.(?)" "p.(Leu1583Pro)" "33"
"0000770441" "00001847" "70" "4748" "0" "4748" "0" "c.4748T>C" "r.(?)" "p.(Leu1583Pro)" "33"
"0000770442" "00001847" "70" "214" "0" "214" "0" "c.214G>A" "r.(?)" "p.(Gly72Arg)" "3"
"0000770443" "00001847" "70" "214" "0" "214" "0" "c.214G>A" "r.(?)" "p.(Gly72Arg)" "3"
"0000770444" "00001847" "70" "214" "0" "214" "0" "c.214G>A" "r.(?)" "p.(Gly72Arg)" "3"
"0000770445" "00001847" "70" "214" "0" "214" "0" "c.214G>A" "r.(?)" "p.(Gly72Arg)" "3"
"0000770446" "00001847" "70" "214" "0" "214" "0" "c.214G>A" "r.(?)" "p.(Gly72Arg)" "3"
"0000770447" "00001847" "70" "214" "0" "214" "0" "c.214G>A" "r.(?)" "p.(Gly72Arg)" "3"
"0000770448" "00001847" "70" "214" "0" "214" "0" "c.214G>A" "r.(?)" "p.(Gly72Arg)" "3"
"0000770449" "00001847" "90" "3081" "0" "3081" "0" "c.3081T>G" "r.(?)" "p.(Tyr1027*)" "21"
"0000770450" "00001847" "70" "214" "0" "214" "0" "c.214G>A" "r.(?)" "p.(Gly72Arg)" "3"
"0000770451" "00001847" "70" "214" "0" "214" "0" "c.214G>A" "r.(?)" "p.(Gly72Arg)" "3"
"0000770452" "00001847" "70" "2300" "0" "2300" "0" "c.2300T>A" "r.(?)" "p.(Val767Asp)" "15"
"0000770453" "00001847" "70" "194" "0" "194" "0" "c.194G>A" "r.(?)" "p.(Gly65Glu)" "3"
"0000770454" "00001847" "50" "1699" "0" "1699" "0" "c.1699G>A" "r.(?)" "p.(Val567Met)" "12"
"0000770455" "00001847" "10" "3602" "0" "3602" "0" "c.3602T>G" "r.(?)" "p.(Leu1201Arg)" "24"
"0000770456" "00001847" "90" "3523" "-2" "3523" "-2" "c.3523-2A>T" "r.spl" "p.?" "23i"
"0000770457" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.[(768g>u;768_769ins768+1_768+35)]" "p.(Leu257Valfs*17)" "6"
"0000770458" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000770459" "00001847" "50" "4297" "0" "4297" "0" "c.4297G>A" "r.(?)" "p.(Val1433Ile)" "29"
"0000770460" "00001847" "90" "3595" "0" "3595" "0" "c.3595C>T" "r.(?)" "p.(Gln1199*)" "24"
"0000770461" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000770462" "00001847" "70" "4793" "0" "4793" "0" "c.4793C>A" "r.(?)" "p.(Ala1598Asp)" "34"
"0000770463" "00001847" "90" "1554" "0" "1554" "0" "c.1554G>A" "r.(?)" "p.(?)" "11"
"0000770464" "00001847" "50" "1522" "0" "1522" "0" "c.1522C>T" "r.(?)" "p.(Arg508Cys)" "11"
"0000770465" "00001847" "90" "3191" "-2" "3191" "0" "c.3191-2_3191del" "r.spl" "p.?" "21i"
"0000770466" "00001847" "90" "6658" "0" "6658" "0" "c.6658C>T" "r.(?)" "p.(Gln2220*)" "48"
"0000770467" "00001847" "70" "6746" "0" "6746" "0" "c.6746C>A" "r.(?)" "p.(Ala2249Asp)" "49"
"0000770468" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.[(768g>u;768_769ins768+1_768+35)]" "p.(Leu257Valfs*17)" "6"
"0000770469" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000770470" "00001847" "90" "1957" "0" "1957" "0" "c.1957C>T" "r.(?)" "p.(Arg653Cys)" "14"
"0000770471" "00001847" "50" "1411" "0" "1411" "0" "c.1411G>A" "r.(?)" "p.(Glu471Lys)" "11"
"0000770472" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000770473" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000770474" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000770475" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000770476" "00001847" "70" "1719" "0" "1719" "0" "c.1719G>A" "r.(?)" "p.(Met573Ile)" "12"
"0000770477" "00001847" "50" "4195" "0" "4195" "0" "c.4195G>A" "r.(?)" "p.(Glu1399Lys)" "28"
"0000770478" "00001847" "90" "6283" "-2" "6283" "-2" "c.6283-2A>G" "r.spl" "p.?" "45i"
"0000770479" "00001847" "70" "4462" "0" "4462" "0" "c.4462T>C" "r.(?)" "p.(Cys1488Arg)" "30"
"0000770480" "00001847" "70" "1009" "0" "1009" "0" "c.1009T>C" "r.(?)" "p.(Phe337Leu)" "8"
"0000770481" "00001847" "70" "1822" "0" "1822" "0" "c.1822T>A" "r.(?)" "p.(Phe608Ile)" "13"
"0000770482" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000770483" "00001847" "90" "1584" "0" "1584" "0" "c.1584C>A" "r.(?)" "p.(Tyr528*)" "12"
"0000770484" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000770485" "00001847" "90" "6658" "0" "6658" "0" "c.6658C>T" "r.(?)" "p.(Gln2220*)" "48"
"0000770486" "00001847" "90" "6658" "0" "6658" "0" "c.6658C>T" "r.(?)" "p.(Gln2220*)" "48"
"0000770487" "00001847" "90" "1995" "0" "1995" "0" "c.1995C>A" "r.(?)" "p.(Tyr655*)" "14"
"0000770488" "00001847" "90" "6355" "0" "6355" "0" "c.6355del" "r.(?)" "p.(Glu2119Lysfs*26)" "46"
"0000770489" "00001847" "70" "3830" "0" "3830" "0" "c.3830C>T" "r.(?)" "p.(Thr1277Met)" "26"
"0000770490" "00001847" "70" "6095" "0" "6095" "0" "c.6095A>G" "r.(?)" "p.(His2032Arg)" "44"
"0000770491" "00001847" "70" "2900" "0" "2900" "0" "c.2900C>T" "r.(?)" "p.(Ala967Val)" "19"
"0000770492" "00001847" "70" "217" "0" "217" "0" "c.217A>T" "r.(?)" "p.(Ile73Phe)" "3"
"0000770493" "00001847" "70" "2912" "0" "2912" "0" "c.2912C>A" "r.(?)" "p.(Thr971Asn)" "19"
"0000770494" "00001847" "70" "3323" "0" "3323" "0" "c.3323G>A" "r.(?)" "p.(Arg1108His)" "22"
"0000770495" "00001847" "70" "2912" "0" "2912" "0" "c.2912C>A" "r.(?)" "p.(Thr971Asn)" "19"
"0000770496" "00001847" "90" "5460" "1" "5460" "1" "c.5460+1G>A" "r.spl" "p.?" "38i"
"0000770497" "00001847" "70" "1648" "0" "1648" "0" "c.1648G>A" "r.(?)" "p.(Gly550Arg)" "12"
"0000770498" "00001847" "90" "5460" "1" "5460" "1" "c.5460+1G>A" "r.spl" "p.?" "38i"
"0000770499" "00001847" "30" "2160" "584" "2160" "584" "c.2160+584A>G" "r.=" "p.(=)" "14i"
"0000770500" "00001847" "50" "4539" "2085" "4539" "2085" "c.4539+2085G>A" "r.(?)" "p.(?)" "30i"
"0000770501" "00001847" "70" "740" "0" "740" "0" "c.740A>T" "r.(?)" "p.(Asn247Ile)" "6"
"0000770502" "00001847" "70" "5318" "0" "5318" "0" "c.5318C>T" "r.(?)" "p.(Ala1773Val)" "38"
"0000770503" "00001847" "90" "157" "0" "157" "0" "c.157G>T" "r.(?)" "p.(Glu53*)" "2"
"0000770504" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000770505" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000770506" "00001847" "70" "5929" "0" "5929" "0" "c.5929G>A" "r.(?)" "p.(Gly1977Ser)" "43"
"0000770507" "00001847" "70" "1289" "0" "1289" "0" "c.1289C>A" "r.(?)" "p.(Ala430Asp)" "10"
"0000770508" "00001847" "90" "1025" "0" "1038" "0" "c.1025_1038del" "r.(?)" "p.(Asp342Glyfs*6)" "8"
"0000770509" "00001847" "70" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" "35"
"0000770510" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000770511" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000770512" "00001847" "90" "1025" "0" "1038" "0" "c.1025_1038del" "r.(?)" "p.(Asp342Glyfs*6)" "8"
"0000770513" "00001847" "70" "1289" "0" "1289" "0" "c.1289C>A" "r.(?)" "p.(Ala430Asp)" "10"
"0000770514" "00001847" "70" "388" "0" "388" "0" "c.388C>A" "r.(?)" "p.(His130Asn)" "4"
"0000770515" "00001847" "70" "1289" "0" "1289" "0" "c.1289C>A" "r.(?)" "p.(Ala430Asp)" "10"
"0000770516" "00001847" "90" "1025" "0" "1038" "0" "c.1025_1038del" "r.(?)" "p.(Asp342Glyfs*6)" "8"
"0000770517" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000770518" "00001847" "90" "1025" "0" "1038" "0" "c.1025_1038del" "r.(?)" "p.(Asp342Glyfs*6)" "8"
"0000770519" "00001847" "50" "5692" "0" "5692" "0" "c.5692C>T" "r.(?)" "p.(Arg1898Cys)" "40"
"0000770520" "00001847" "70" "5929" "0" "5929" "0" "c.5929G>A" "r.(?)" "p.(Gly1977Ser)" "43"
"0000770521" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000770522" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000770523" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000770524" "00001847" "70" "2453" "0" "2453" "0" "c.2453G>A" "r.(?)" "p.(Gly818Glu)" "16"
"0000770525" "00001847" "70" "4363" "0" "4363" "0" "c.4363T>C" "r.(?)" "p.(Cys1455Arg)" "30"
"0000770526" "00001847" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408*)" "9"
"0000770527" "00001847" "70" "2915" "0" "2915" "0" "c.2915C>A" "r.(?)" "p.(Thr972Asn)" "19"
"0000770528" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000770529" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000770530" "00001847" "90" "4540" "-2" "4540" "-2" "c.4540-2A>G" "r.spl" "p.?" "30i"
"0000770531" "00001847" "70" "3364" "0" "3364" "0" "c.3364G>A" "r.(?)" "p.(Glu1122Lys)" "23"
"0000770532" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000770533" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000770534" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000770535" "00001847" "90" "4234" "0" "4234" "0" "c.4234C>T" "r.(?)" "p.(Gln1412*)" "28"
"0000770536" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000770537" "00001847" "50" "3758" "0" "3758" "0" "c.3758C>T" "r.(?)" "p.(Thr1253Met)" "25"
"0000770538" "00001847" "70" "673" "0" "673" "0" "c.673G>A" "r.(?)" "p.(Val225Met)" "6"
"0000770539" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000770540" "00001847" "90" "3988" "0" "3988" "0" "c.3988G>T" "r.(?)" "p.(Glu1330*)" "27"
"0000770541" "00001847" "90" "1760" "1" "1760" "1" "c.1760+1G>T" "r.spl" "p.?" "12i"
"0000770542" "00001847" "90" "4537" "0" "4537" "0" "c.4537dup" "r.(?)" "p.(Gln1513Profs*42)" "30"
"0000770543" "00001847" "90" "858" "2" "858" "2" "c.858+2T>A" "r.spl" "p.?" "7i"
"0000770544" "00001847" "70" "983" "0" "983" "0" "c.983A>T" "r.(?)" "p.(Glu328Val)" "8"
"0000770545" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000770546" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000770547" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000770548" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000770549" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000770550" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000770551" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000770552" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000770553" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000770554" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000770555" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000770556" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000770557" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000770558" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000770559" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000770560" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000770561" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000770562" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000770563" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000770564" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000770565" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000770566" "00001847" "90" "741" "0" "744" "0" "c.741_744del" "r.(?)" "p.(Asn247Lysfs*14)" "6"
"0000770567" "00001847" "70" "161" "0" "161" "0" "c.161G>A" "r.[161_302del,161g>a]" "p.[Cys54Serfs*14,Cys54Tyr]" "3"
"0000770568" "00001847" "90" "570" "1" "570" "1" "c.570+1G>A" "r.spl" "p.?" "5i"
"0000770569" "00001847" "90" "700" "0" "700" "0" "c.700C>T" "r.(?)" "p.(Gln234*)" "6"
"0000770570" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.[(768g>u;768_769ins768+1_768+35)]" "p.(Leu257Valfs*17)" "6"
"0000770571" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.[(768g>u;768_769ins768+1_768+35)]" "p.(Leu257Valfs*17)" "6"
"0000770572" "00001847" "50" "768" "538" "768" "538" "c.768+538C>G" "r.spl?" "p.(?)" "6i"
"0000770573" "00001847" "90" "885" "0" "885" "0" "c.885del" "r.(?)" "p.(Leu296Cysfs*4)" "8"
"0000770574" "00001847" "70" "1253" "0" "1253" "0" "c.1253T>C" "r.(?)" "p.(Phe418Ser)" "10"
"0000770575" "00001847" "70" "1574" "0" "1574" "0" "c.1574T>C" "r.(?)" "p.(Phe525Ser)" "12"
"0000770576" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000770577" "00001847" "50" "1654" "0" "1654" "0" "c.1654G>A" "r.(?)" "p.(Val552Ile)" "12"
"0000770578" "00001847" "50" "1654" "0" "1654" "0" "c.1654G>A" "r.(?)" "p.(Val552Ile)" "12"
"0000770579" "00001847" "50" "1933" "0" "1933" "0" "c.1933G>A" "r.(?)" "p.(Asp645Asn)" "13"
"0000770580" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000770581" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000770582" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000770583" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000770584" "00001847" "50" "2617" "0" "2617" "0" "c.2617T>C" "r.(?)" "p.(Phe873Leu)" "17"
"0000770585" "00001847" "50" "2617" "0" "2617" "0" "c.2617T>C" "r.(?)" "p.(Phe873Leu)" "17"
"0000770586" "00001847" "90" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071Cysfs*14)" "22"
"0000770587" "00001847" "90" "3259" "0" "3259" "0" "c.3259G>A" "r.(?)" "p.(Glu1087Lys)" "22"
"0000770588" "00001847" "90" "3259" "0" "3259" "0" "c.3259G>A" "r.(?)" "p.(Glu1087Lys)" "22"
"0000770589" "00001847" "70" "3364" "0" "3364" "0" "c.3364G>A" "r.(?)" "p.(Glu1122Lys)" "23"
"0000770590" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000770591" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000770592" "00001847" "90" "4254" "-197" "4672" "0" "c.4254-197_4672delinsGCTTTT" "r.(?)" "p.(?)" "28i_33"
"0000770593" "00001847" "90" "4288" "0" "4294" "0" "c.4288_4294del" "r.(?)" "p.(Leu1430Thrfs*4)" "29"
"0000770594" "00001847" "70" "4363" "0" "4363" "0" "c.4363T>C" "r.(?)" "p.(Cys1455Arg)" "30"
"0000770595" "00001847" "70" "4463" "0" "4463" "0" "c.4463G>T" "r.(?)" "p.(Cys1488Phe)" "30"
"0000770596" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000770597" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000770598" "00001847" "70" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" "31"
"0000770599" "00001847" "70" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" "31"
"0000770600" "00001847" "70" "5584" "0" "5584" "0" "c.5584G>T" "r.(?)" "p.(Gly1862Cys,?)" "39"
"0000770601" "00001847" "70" "6729" "5" "6729" "19" "c.6729+5_6729+19del" "r.6480_6729del" "p.(Phe2161Cysfs*3)" "48i"
"0000770602" "00001847" "70" "6729" "5" "6729" "19" "c.6729+5_6729+19del" "r.6480_6729del" "p.(Phe2161Cysfs*3)" "48i"
"0000770603" "00001847" "90" "5935" "0" "5935" "0" "c.5935del" "r.(?)" "p.(Thr1979Glnfs*13)" "43"
"0000770604" "00001847" "70" "6563" "0" "6563" "0" "c.6563T>C" "r.(?)" "p.(Phe2188Ser)" "48"
"0000770605" "00001847" "90" "6005" "2" "6005" "2" "c.6005+2T>C" "r.spl" "p.?" "43i"
"0000770606" "00001847" "90" "1555" "-1" "1555" "-1" "c.1555-1G>T" "r.(?)" "p.(?)" "11i"
"0000770607" "00001847" "70" "5300" "0" "5300" "0" "c.5300T>C" "r.(?)" "p.(Leu1767Pro)" "37"
"0000770608" "00001847" "70" "5486" "0" "5486" "0" "c.5486T>C" "r.(?)" "p.(Leu1829Pro)" "39"
"0000770609" "00001847" "90" "6816" "1" "6816" "1" "c.6816+1G>A" "r.spl" "p.?" "49i"
"0000770610" "00001847" "90" "2424" "0" "2424" "0" "c.2424C>G" "r.(?)" "p.(Tyr808*)" "16"
"0000770611" "00001847" "90" "1761" "-2" "1761" "-2" "c.1761-2A>G" "r.spl" "p.?" "13"
"0000770612" "00001847" "90" "1819" "0" "1819" "0" "c.1819G>A" "r.(?)" "p.(Gly607Arg)" "13"
"0000770613" "00001847" "70" "1293" "0" "1293" "0" "c.1293G>C" "r.(?)" "p.(Trp431Cys)" "10"
"0000770614" "00001847" "70" "6284" "0" "6284" "0" "c.6284A>T" "r.(?)" "p.(Asp2095Val,?)" "46"
"0000770615" "00001847" "70" "6179" "0" "6179" "0" "c.6179T>G" "r.(?)" "p.(Leu2060Arg)" "45"
"0000770616" "00001847" "70" "6563" "0" "6563" "0" "c.6563T>C" "r.(?)" "p.(Phe2188Ser)" "48"
"0000770617" "00001847" "50" "6289" "0" "6289" "0" "c.6289C>T" "r.(?)" "p.(Pro2097Ser)" "46"
"0000770618" "00001847" "90" "3898" "0" "3898" "0" "c.3898C>T" "r.(?)" "p.(Arg1300*)" "27"
"0000770619" "00001847" "70" "1892" "0" "1892" "0" "c.1892G>T" "r.(?)" "p.(Gly631Val)" "13"
"0000770620" "00001847" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408*)" "9"
"0000770621" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000770622" "00001847" "70" "6328" "0" "6328" "0" "c.6328T>C" "r.(?)" "p.(Trp2110Arg)" "46"
"0000770623" "00001847" "90" "2424" "0" "2424" "0" "c.2424C>G" "r.(?)" "p.(Tyr808*)" "16"
"0000770624" "00001847" "90" "5019" "0" "5019" "0" "c.5019del" "r.(?)" "p.(?)" "36"
"0000770625" "00001847" "90" "4845" "0" "4845" "0" "c.4845del" "r.(?)" "p.(Lys1616Argfs*46)" "34"
"0000770626" "00001847" "90" "4555" "0" "4555" "0" "c.4555del" "r.(?)" "p.(Thr1519Argfs*7)" "31"
"0000770627" "00001847" "90" "4352" "1" "4352" "1" "c.4352+1G>A" "r.spl" "p.?" "29i"
"0000770628" "00001847" "70" "53" "0" "53" "0" "c.53G>C" "r.(?)" "p.(Arg18Pro)" "1"
"0000770629" "00001847" "70" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" "31"
"0000770630" "00001847" "90" "1761" "-2" "1761" "-2" "c.1761-2A>G" "r.spl" "p.?" "13"
"0000770631" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000770632" "00001847" "70" "5327" "0" "5327" "0" "c.5327C>T" "r.(?)" "p.(Pro1776Leu)" "38"
"0000770633" "00001847" "90" "5983" "0" "5983" "0" "c.5983del" "r.(?)" "p.(Asp1995Metfs*4)" "43"
"0000770634" "00001847" "90" "5196" "1" "5196" "1" "c.5196+1G>A" "r.spl" "p.?" "36i"
"0000770635" "00001847" "70" "6317" "0" "6317" "0" "c.6317G>A" "r.(?)" "p.(Arg2106His)" "46"
"0000770636" "00001847" "90" "3883" "0" "3884" "0" "c.3883_3884del" "r.(?)" "p.(Glu1295Lysfs*126)" "27"
"0000770637" "00001847" "90" "2424" "0" "2424" "0" "c.2424C>G" "r.(?)" "p.(Tyr808*)" "16"
"0000770638" "00001847" "70" "1497" "0" "1497" "0" "c.1497G>C" "r.(?)" "p.(Trp499Cys)" "11"
"0000770639" "00001847" "90" "1714" "0" "1714" "0" "c.1714C>T" "r.(?)" "p.(Arg572*)" "12"
"0000770640" "00001847" "90" "5586" "-1" "5835" "1" "c.(5585+1_5586-1)_(5835+1_5836-1)del" "r.(?)" "p.(?)" "39i_41i"
"0000770641" "00001847" "90" "1761" "-2" "1761" "-2" "c.1761-2A>G" "r.spl" "p.?" "13"
"0000770642" "00001847" "70" "6563" "0" "6563" "0" "c.6563T>C" "r.(?)" "p.(Phe2188Ser)" "48"
"0000770643" "00001847" "90" "4775" "0" "4775" "0" "c.4775G>A" "r.(?)" "p.(Gly1592Asp)" "34"
"0000770644" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000770645" "00001847" "70" "286" "0" "286" "0" "c.286A>G" "r.(?)" "p.(Asn96Asp)" "3"
"0000770646" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000770647" "00001847" "90" "4537" "0" "4537" "0" "c.4537dup" "r.(?)" "p.(Gln1513Profs*42)" "30"
"0000770648" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000770649" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000770650" "00001847" "90" "735" "0" "735" "0" "c.735T>G" "r.(?)" "p.(Tyr245*)" "6"
"0000770651" "00001847" "90" "247" "0" "250" "0" "c.247_250dup" "r.(?)" "p.(Ser84Thrfs*16)" "3"
"0000770652" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000770653" "00001847" "70" "286" "0" "286" "0" "c.286A>G" "r.(?)" "p.(Asn96Asp)" "3"
"0000770654" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000770655" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000770656" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000770657" "00001847" "50" "455" "0" "455" "0" "c.455G>A" "r.(?)" "p.(Arg152Gln)" "5"
"0000770658" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.[(768g>u;768_769ins768+1_768+35)]" "p.(Leu257Valfs*17)" "6"
"0000770659" "00001847" "70" "4793" "0" "4793" "0" "c.4793C>A" "r.(?)" "p.(Ala1598Asp)" "34"
"0000770660" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000770661" "00001847" "90" "3898" "0" "3898" "0" "c.3898C>T" "r.(?)" "p.(Arg1300*)" "27"
"0000770662" "00001847" "90" "319" "0" "319" "0" "c.319C>T" "r.(?)" "p.(Arg107*)" "4"
"0000770663" "00001847" "90" "1714" "0" "1714" "0" "c.1714C>T" "r.(?)" "p.(Arg572*)" "12"
"0000770664" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000770665" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000770666" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000770667" "00001847" "70" "6729" "5" "6729" "19" "c.6729+5_6729+19del" "r.6480_6729del" "p.(Phe2161Cysfs*3)" "48i"
"0000770668" "00001847" "70" "1610" "0" "1610" "0" "c.1610G>A" "r.(?)" "p.(Arg537His)" "12"
"0000770669" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000770670" "00001847" "70" "5137" "0" "5138" "0" "c.5137_5138delinsAG" "r.(?)" "p.(Gln1713Arg)" "36"
"0000770671" "00001847" "70" "629" "0" "629" "0" "c.629T>A" "r.(?)" "p.(Leu210Gln)" "6"
"0000770672" "00001847" "70" "5929" "0" "5929" "0" "c.5929G>A" "r.(?)" "p.(Gly1977Ser)" "43"
"0000770673" "00001847" "70" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" "44"
"0000770674" "00001847" "70" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.[=,5196_5197ins5196+1140_5196+1212]" "p.[=,Met1733Glufs*78]" "36i"
"0000770675" "00001847" "70" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.[=,5196_5197ins5196+1140_5196+1212]" "p.[=,Met1733Glufs*78]" "36i"
"0000770676" "00001847" "70" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.[=,5196_5197ins5196+1140_5196+1212]" "p.[=,Met1733Glufs*78]" "36i"
"0000770677" "00001847" "70" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.[=,5196_5197ins5196+1140_5196+1212]" "p.[=,Met1733Glufs*78]" "36i"
"0000770678" "00001847" "70" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.[=,5196_5197ins5196+1140_5196+1212]" "p.[=,Met1733Glufs*78]" "36i"
"0000770679" "00001847" "70" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.[=,5196_5197ins5196+1140_5196+1212]" "p.[=,Met1733Glufs*78]" "36i"
"0000770680" "00001847" "70" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.[=,5196_5197ins5196+1140_5196+1212]" "p.[=,Met1733Glufs*78]" "36i"
"0000770681" "00001847" "70" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.[=,5196_5197ins5196+1140_5196+1212]" "p.[=,Met1733Glufs*78]" "36i"
"0000770682" "00001847" "70" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.[=,5196_5197ins5196+1140_5196+1212]" "p.[=,Met1733Glufs*78]" "36i"
"0000770683" "00001847" "70" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.[=,5196_5197ins5196+1140_5196+1212]" "p.[=,Met1733Glufs*78]" "36i"
"0000770684" "00001847" "70" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.[=,5196_5197ins5196+1140_5196+1212]" "p.[=,Met1733Glufs*78]" "36i"
"0000770685" "00001847" "70" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.[=,5196_5197ins5196+1140_5196+1212]" "p.[=,Met1733Glufs*78]" "36i"
"0000770686" "00001847" "70" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.[=,5196_5197ins5196+1140_5196+1212]" "p.[=,Met1733Glufs*78]" "36i"
"0000770687" "00001847" "70" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.[=,5196_5197ins5196+1140_5196+1212]" "p.[=,Met1733Glufs*78]" "36i"
"0000770688" "00001847" "70" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.[=,5196_5197ins5196+1140_5196+1212]" "p.[=,Met1733Glufs*78]" "36i"
"0000770689" "00001847" "70" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.[=,5196_5197ins5196+1140_5196+1212]" "p.[=,Met1733Glufs*78]" "36i"
"0000770690" "00001847" "70" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.[=,5196_5197ins5196+1140_5196+1212]" "p.[=,Met1733Glufs*78]" "36i"
"0000770691" "00001847" "70" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.[=,5196_5197ins5196+1140_5196+1212]" "p.[=,Met1733Glufs*78]" "36i"
"0000770692" "00001847" "70" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.[=,5196_5197ins5196+1140_5196+1212]" "p.[=,Met1733Glufs*78]" "36i"
"0000770693" "00001847" "90" "4126" "0" "4126" "0" "c.4126C>T" "r.(?)" "p.(Gln1376*)" "27"
"0000770694" "00001847" "70" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.[=,5196_5197ins5196+1140_5196+1212]" "p.[=,Met1733Glufs*78]" "36i"
"0000770695" "00001847" "70" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.[=,5196_5197ins5196+1140_5196+1212]" "p.[=,Met1733Glufs*78]" "36i"
"0000770696" "00001847" "70" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.[=,5196_5197ins5196+1140_5196+1212]" "p.[=,Met1733Glufs*78]" "36i"
"0000770697" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000770698" "00001847" "90" "1344" "0" "1344" "0" "c.1344del" "r.(?)" "p.(Met448Ilefs*3)" "10"
"0000770699" "00001847" "90" "1344" "0" "1344" "0" "c.1344del" "r.(?)" "p.(Met448Ilefs*3)" "10"
"0000770700" "00001847" "70" "6746" "0" "6746" "0" "c.6746C>A" "r.(?)" "p.(Ala2249Asp)" "49"
"0000770701" "00001847" "70" "4793" "0" "4793" "0" "c.4793C>A" "r.(?)" "p.(Ala1598Asp)" "34"
"0000770702" "00001847" "90" "2041" "0" "2041" "0" "c.2041C>T" "r.(?)" "p.(Arg681*)" "14"
"0000770703" "00001847" "90" "4234" "0" "4234" "0" "c.4234C>T" "r.(?)" "p.(Gln1412*)" "28"
"0000770704" "00001847" "90" "2626" "0" "2626" "0" "c.2626C>T" "r.(?)" "p.(Gln876*)" "17"
"0000770705" "00001847" "70" "2549" "0" "2549" "0" "c.2549A>G" "r.(?)" "p.(Tyr850Cys)" "16"
"0000770706" "00001847" "90" "3098" "0" "3098" "0" "c.3098del" "r.(?)" "p.(Lys1033Serfs*51)" "21"
"0000770707" "00001847" "90" "1309" "0" "1309" "0" "c.1309del" "r.(?)" "p.Gln437Argfs*12" "10"
"0000770708" "00001847" "90" "4234" "0" "4234" "0" "c.4234C>T" "r.(?)" "p.(Gln1412*)" "28"
"0000770709" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000770710" "00001847" "90" "4234" "0" "4234" "0" "c.4234C>T" "r.(?)" "p.(Gln1412*)" "28"
"0000770711" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000770712" "00001847" "90" "3212" "0" "3212" "0" "c.3212C>T" "r.(?)" "p.(Ser1071Leu)" "22"
"0000770713" "00001847" "70" "5509" "0" "5509" "0" "c.5509C>A" "r.(?)" "p.(Pro1837Thr)" "39"
"0000770714" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000770715" "00001847" "90" "1354" "0" "1354" "0" "c.1354dup" "r.(?)" "p.(Arg452Lysfs*15)" "10"
"0000770716" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000770717" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000770718" "00001847" "90" "3212" "0" "3212" "0" "c.3212C>T" "r.(?)" "p.(Ser1071Leu)" "22"
"0000770719" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.[(768g>u;768_769ins768+1_768+35)]" "p.(Leu257Valfs*17)" "6"
"0000770720" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000770721" "00001847" "70" "1253" "0" "1253" "0" "c.1253T>C" "r.(?)" "p.(Phe418Ser)" "10"
"0000770722" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000770723" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.[(768g>u;768_769ins768+1_768+35)]" "p.(Leu257Valfs*17)" "6"
"0000770724" "00001847" "70" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" "44"
"0000770725" "00001847" "90" "1309" "0" "1309" "0" "c.1309del" "r.(?)" "p.Gln437Argfs*12" "10"
"0000770726" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000770727" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000770728" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000770729" "00001847" "70" "1807" "0" "1807" "0" "c.1807T>C" "r.(?)" "p.(Tyr603His)" "13"
"0000770730" "00001847" "70" "6112" "0" "6112" "0" "c.6112C>T" "r.(?)" "p.(Arg2038Trp)" "44"
"0000770731" "00001847" "70" "1822" "0" "1822" "0" "c.1822T>A" "r.(?)" "p.(Phe608Ile)" "13"
"0000770732" "00001847" "90" "3093" "0" "3093" "0" "c.3093del" "r.(?)" "p.(Gly1032Glufs*52)" "21"
"0000770733" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000770734" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000770735" "00001847" "90" "206" "0" "206" "0" "c.206G>A" "r.(?)" "p.(Trp69*)" "3"
"0000770736" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000770737" "00001847" "90" "3261" "0" "3261" "0" "c.3261A>C" "r.(?)" "p.(Glu1087Asp)" "22"
"0000770738" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>A" "r.(?)" "p.(Gly863Glu)" "17"
"0000770739" "00001847" "70" "5512" "0" "5512" "0" "c.5512C>G" "r.(?)" "p.(His1838Asp)" "39"
"0000770740" "00001847" "50" "1654" "0" "1654" "0" "c.1654G>A" "r.(?)" "p.(Val552Ile)" "12"
"0000770741" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000770742" "00001847" "70" "5512" "0" "5512" "0" "c.5512C>G" "r.(?)" "p.(His1838Asp)" "39"
"0000770743" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000770744" "00001847" "90" "2919" "-1" "3328" "1" "c.(2918+1_2919-1)_(3328+1_3329-1)del" "r.(?)" "p.(Ser974Glnfs*64)" "19i_22i"
"0000770745" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000770746" "00001847" "90" "5196" "2" "5196" "2" "c.5196+2T>C" "r.spl" "p.?" "36i"
"0000770747" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000770748" "00001847" "90" "470" "0" "470" "0" "c.470T>A" "r.(?)" "p.(Leu157*)" "5"
"0000770749" "00001847" "90" "5762" "0" "5763" "0" "c.5762_5763dup" "r.(?)" "p.(Ala1922Trpfs*18)" "41"
"0000770750" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000770751" "00001847" "90" "5172" "0" "5172" "0" "c.5172G>A" "r.(?)" "p.(Trp1724*)" "36"
"0000770752" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000770753" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000770754" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000770755" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.[(768g>u;768_769ins768+1_768+35)]" "p.(Leu257Valfs*17)" "6"
"0000770756" "00001847" "50" "5196" "1483" "5313" "-89" "c.5196+1483_5313-89del" "r.(?)" "p.(?)" "36i"
"0000770757" "00001847" "50" "2401" "0" "2401" "0" "c.2401G>A" "r.(?)" "p.(Ala801Thr)" "16"
"0000770758" "00001847" "70" "4468" "0" "4468" "0" "c.4468T>C" "r.(?)" "p.(Cys1490Arg)" "30"
"0000770759" "00001847" "90" "66" "0" "66" "0" "c.66G>A" "r.(?)" "p.(=)" "1"
"0000770760" "00001847" "70" "6746" "0" "6746" "0" "c.6746C>A" "r.(?)" "p.(Ala2249Asp)" "49"
"0000770761" "00001847" "70" "4793" "0" "4793" "0" "c.4793C>A" "r.(?)" "p.(Ala1598Asp)" "34"
"0000770762" "00001847" "90" "4234" "0" "4234" "0" "c.4234C>T" "r.(?)" "p.(Gln1412*)" "28"
"0000770763" "00001847" "90" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071Cysfs*14)" "22"
"0000770764" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000770765" "00001847" "50" "2401" "0" "2401" "0" "c.2401G>A" "r.(?)" "p.(Ala801Thr)" "16"
"0000770766" "00001847" "70" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" "44"
"0000770767" "00001847" "70" "5512" "0" "5512" "0" "c.5512C>G" "r.(?)" "p.(His1838Asp)" "39"
"0000770768" "00001847" "70" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" "44"
"0000770769" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000770770" "00001847" "50" "455" "0" "455" "0" "c.455G>A" "r.(?)" "p.(Arg152Gln)" "5"
"0000770771" "00001847" "70" "286" "0" "286" "0" "c.286A>G" "r.(?)" "p.(Asn96Asp)" "3"
"0000770772" "00001847" "90" "4066" "0" "4066" "0" "c.4066C>T" "r.(?)" "p.(Gln1356*)" "27"
"0000770773" "00001847" "70" "4347" "0" "4347" "0" "c.4347G>T" "r.(?)" "p.(Trp1449Cys)" "29"
"0000770774" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000770775" "00001847" "90" "741" "0" "744" "0" "c.741_744del" "r.(?)" "p.(Asn247Lysfs*14)" "6"
"0000770776" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000770777" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000770778" "00001847" "70" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" "35"
"0000770779" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000770780" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000770781" "00001847" "70" "1411" "0" "1411" "0" "c.1411G>C" "r.(?)" "p.(Glu471Gln)" "11"
"0000770782" "00001847" "70" "872" "0" "872" "0" "c.872C>T" "r.(?)" "p.(Pro291Leu)" "8"
"0000770783" "00001847" "70" "214" "0" "214" "0" "c.214G>A" "r.(?)" "p.(Gly72Arg)" "3"
"0000770784" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.[(768g>u;768_769ins768+1_768+35)]" "p.(Leu257Valfs*17)" "6"
"0000770785" "00001847" "90" "3871" "0" "3871" "0" "c.3871C>T" "r.(?)" "p.(Gln1291*)" "27"
"0000770786" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000770787" "00001847" "90" "2919" "-1" "3328" "1" "c.(2918+1_2919-1)_(3328+1_3329-1)del" "r.(?)" "p.(Ser974Glnfs*64)" "19i_22i"
"0000770788" "00001847" "90" "5189" "0" "5189" "0" "c.5189G>A" "r.(?)" "p.(Trp1730*)" "36"
"0000770789" "00001847" "50" "1792" "0" "1792" "0" "c.1792G>A" "r.(?)" "p.(Val598Met)" "13"
"0000770790" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000770791" "00001847" "70" "52" "0" "52" "0" "c.52C>T" "r.(?)" "p.(Arg18Trp)" "1"
"0000770792" "00001847" "70" "1916" "0" "1916" "0" "c.1916A>G" "r.(?)" "p.(Tyr639Cys)" "13"
"0000770793" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000770794" "00001847" "50" "1140" "0" "1140" "0" "c.1140T>A" "r.(?)" "p.(Asn380Lys)" "9"
"0000770795" "00001847" "90" "3259" "0" "3259" "0" "c.3259G>A" "r.(?)" "p.(Glu1087Lys)" "22"
"0000770796" "00001847" "70" "4539" "2028" "4539" "2028" "c.4539+2028C>T" "r.[=,4539_4540ins[4539+1891_4539+2027;u;4539+2029_4540-2162]]" "p.[=,Arg1514Leufs*36]" "30i"
"0000770797" "00001847" "70" "4539" "2028" "4539" "2028" "c.4539+2028C>T" "r.[=,4539_4540ins[4539+1891_4539+2027;u;4539+2029_4540-2162]]" "p.[=,Arg1514Leufs*36]" "30i"
"0000770798" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000770799" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000770800" "00001847" "70" "5216" "0" "5216" "0" "c.5216C>A" "r.(?)" "p.(Ala1739Asp)" "37"
"0000770801" "00001847" "50" "6190" "0" "6190" "0" "c.6190G>A" "r.(?)" "p.(Ala2064Thr)" "45"
"0000770802" "00001847" "90" "2297" "0" "2297" "0" "c.2297dup" "r.(?)" "p.(Val767Cysfs*23)" "15"
"0000770803" "00001847" "90" "4897" "0" "4906" "0" "c.4897_4906del" "r.(?)" "p.(Val1633Thrfs*26)" "35"
"0000770804" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000770805" "00001847" "70" "4253" "4" "4253" "4" "c.4253+4C>T" "r.4129_4253del" "p.(Ile1377Hisfs*3)" "28i"
"0000770806" "00001847" "50" "6190" "0" "6190" "0" "c.6190G>A" "r.(?)" "p.(Ala2064Thr)" "45"
"0000770807" "00001847" "70" "6563" "0" "6563" "0" "c.6563T>C" "r.(?)" "p.(Phe2188Ser)" "48"
"0000770808" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000770809" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000770810" "00001847" "70" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" "31"
"0000770811" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000770812" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000770813" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000770814" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000770815" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000770816" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000770817" "00001847" "70" "4163" "0" "4163" "0" "c.4163T>C" "r.(?)" "p.(Leu1388Pro)" "28"
"0000770818" "00001847" "70" "4163" "0" "4163" "0" "c.4163T>C" "r.(?)" "p.(Leu1388Pro)" "28"
"0000770819" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000770820" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000770821" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000770822" "00001847" "70" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" "31"
"0000770823" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000770824" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000770825" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000770826" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000770827" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000770828" "00001847" "90" "2564" "0" "2564" "0" "c.2564G>A" "r.(?)" "p.(Trp855*)" "16"
"0000770829" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000770830" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000770831" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000770832" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000770833" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000770834" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000770835" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000770836" "00001847" "90" "2564" "0" "2564" "0" "c.2564G>A" "r.(?)" "p.(Trp855*)" "16"
"0000770837" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000770838" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000770839" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000770840" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000770841" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000770842" "00001847" "90" "2564" "0" "2564" "0" "c.2564G>A" "r.(?)" "p.(Trp855*)" "16"
"0000770843" "00001847" "90" "2564" "0" "2564" "0" "c.2564G>A" "r.(?)" "p.(Trp855*)" "16"
"0000770844" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000770845" "00001847" "70" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" "31"
"0000770846" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000770847" "00001847" "70" "4163" "0" "4163" "0" "c.4163T>C" "r.(?)" "p.(Leu1388Pro)" "28"
"0000770848" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000770849" "00001847" "70" "223" "0" "223" "0" "c.223T>G" "r.(?)" "p.(Cys75Gly)" "3"
"0000770850" "00001847" "90" "699" "0" "768" "341" "c.699_768+341del" "r.(?)" "p.(Gln234Phefs*5)" "6_6i"
"0000770851" "00001847" "90" "3292" "0" "3292" "0" "c.3292C>T" "r.(?)" "p.(Arg1098Cys)" "22"
"0000770852" "00001847" "50" "1964" "0" "1964" "0" "c.1964T>G" "r.(?)" "p.(Phe655Cys)" "14"
"0000770853" "00001847" "90" "4539" "2064" "4539" "2064" "c.4539+2064C>T" "r.[=,4539_4540ins4539+1891_4540-2162]" "p.[=,Arg1514Leufs*36]" "30i"
"0000770854" "00001847" "90" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071Cysfs*14)" "22"
"0000770855" "00001847" "50" "1715" "0" "1715" "0" "c.1715G>C" "r.(?)" "p.(Arg572Pro)" "12"
"0000770856" "00001847" "70" "4253" "5" "4253" "5" "c.4253+5G>A" "r.4129_4253del" "p.(Ile1377Hisfs*3)" "28i"
"0000770857" "00001847" "70" "2300" "0" "2300" "0" "c.2300T>A" "r.(?)" "p.(Val767Asp)" "15"
"0000770858" "00001847" "70" "1648" "0" "1648" "0" "c.1648G>A" "r.(?)" "p.(Gly550Arg)" "12"
"0000770859" "00001847" "90" "3056" "0" "3056" "0" "c.3056C>T" "r.(?)" "p.(Thr1019Met)" "21"
"0000770860" "00001847" "70" "4457" "0" "4457" "0" "c.4457C>T" "r.(?)" "p.(Pro1486Leu)" "30"
"0000770861" "00001847" "50" "1792" "0" "1792" "0" "c.1792G>A" "r.(?)" "p.(Val598Met)" "13"
"0000770862" "00001847" "10" "3899" "0" "3899" "0" "c.3899G>A" "r.(?)" "p.(Arg1300Gln)" "27"
"0000770863" "00001847" "90" "3943" "0" "3943" "0" "c.3943C>T" "r.(?)" "p.(Gln1315*)" "27"
"0000770864" "00001847" "90" "671" "0" "671" "0" "c.671del" "r.(?)" "p.(Thr224Argfs*17)" "6"
"0000770865" "00001847" "50" "4519" "0" "4519" "0" "c.4519G>A" "r.(?)" "p.(Gly1507Arg)" "30"
"0000770866" "00001847" "70" "2285" "0" "2285" "0" "c.2285C>A" "r.(?)" "p.(Ala762Glu)" "15"
"0000770867" "00001847" "50" "2401" "0" "2401" "0" "c.2401G>A" "r.(?)" "p.(Ala801Thr)" "16"
"0000770868" "00001847" "90" "454" "0" "454" "0" "c.454C>T" "r.(?)" "p.(Arg152*)" "5"
"0000770869" "00001847" "90" "950" "0" "950" "0" "c.950del" "r.(?)" "p.(Gly317Alafs*57)" "8"
"0000770870" "00001847" "50" "5451" "0" "5451" "0" "c.5451G>T" "r.(?)" "p.(Glu1817Asp)" "38"
"0000770871" "00001847" "50" "2791" "0" "2791" "0" "c.2791G>A" "r.(?)" "p.(Val931Met)" "19"
"0000770872" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000770873" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000770874" "00001847" "70" "4253" "4" "4253" "4" "c.4253+4C>T" "r.4129_4253del" "p.(Ile1377Hisfs*3)" "28i"
"0000770875" "00001847" "90" "1819" "0" "1819" "0" "c.1819G>A" "r.(?)" "p.(Gly607Arg)" "13"
"0000770876" "00001847" "70" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.[=,5196_5197ins5196+1140_5196+1212]" "p.[=,Met1733Glufs*78]" "36i"
"0000770877" "00001847" "90" "1035" "0" "1035" "0" "c.1035T>G" "r.(?)" "p.(Tyr345*)" "8"
"0000770878" "00001847" "70" "4457" "0" "4457" "0" "c.4457C>T" "r.(?)" "p.(Pro1486Leu)" "30"
"0000770879" "00001847" "70" "560" "0" "560" "0" "c.560G>A" "r.(?)" "p.(Arg187His)" "5"
"0000770880" "00001847" "90" "4537" "0" "4537" "0" "c.4537dup" "r.(?)" "p.(Gln1513Profs*42)" "30"
"0000770881" "00001847" "90" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071Cysfs*14)" "22"
"0000770882" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000770883" "00001847" "70" "1022" "0" "1022" "0" "c.1022A>T" "r.(?)" "p.(Glu341Val)" "8"
"0000770884" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000770885" "00001847" "70" "3299" "0" "3299" "0" "c.3299T>C" "r.(?)" "p.(Ile1100Thr)" "22"
"0000770886" "00001847" "90" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.(Met1Val)" "1"
"0000770887" "00001847" "90" "2888" "0" "2888" "0" "c.2888del" "r.(?)" "p.(Gly963Alafs*14)" "19"
"0000770888" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000770889" "00001847" "70" "3364" "0" "3364" "0" "c.3364G>A" "r.(?)" "p.(Glu1122Lys)" "23"
"0000770890" "00001847" "70" "3409" "0" "3409" "0" "c.3409A>G" "r.(?)" "p.(Arg1137Gly)" "23"
"0000770891" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000770892" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000770893" "00001847" "90" "3832" "0" "3832" "0" "c.3832G>T" "r.(?)" "p.(Glu1278*)" "26"
"0000770894" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000770895" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000770896" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000770897" "00001847" "70" "4576" "0" "4576" "0" "c.4576A>G" "r.(?)" "p.(Thr1526Ala)" "31"
"0000770898" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000770899" "00001847" "70" "4457" "0" "4457" "0" "c.4457C>T" "r.(?)" "p.(Pro1486Leu)" "30"
"0000770900" "00001847" "90" "393" "0" "393" "0" "c.393del" "r.(?)" "p.(Leu132Cysfs*22)" "4"
"0000770901" "00001847" "70" "184" "0" "184" "0" "c.184C>G" "r.(?)" "p.(Pro62Ala)" "3"
"0000770902" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000770903" "00001847" "70" "2300" "0" "2300" "0" "c.2300T>A" "r.(?)" "p.(Val767Asp)" "15"
"0000770904" "00001847" "70" "4457" "0" "4457" "0" "c.4457C>T" "r.(?)" "p.(Pro1486Leu)" "30"
"0000770905" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000770906" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000770907" "00001847" "90" "982" "0" "982" "0" "c.982G>T" "r.(?)" "p.(Glu328*)" "8"
"0000770908" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000770909" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000770910" "00001847" "70" "6179" "0" "6179" "0" "c.6179T>G" "r.(?)" "p.(Leu2060Arg)" "45"
"0000770911" "00001847" "70" "6179" "0" "6179" "0" "c.6179T>G" "r.(?)" "p.(Leu2060Arg)" "45"
"0000770912" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000770913" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000770914" "00001847" "70" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" "44"
"0000770915" "00001847" "70" "5819" "0" "5819" "0" "c.5819T>C" "r.(?)" "p.(Leu1940Pro)" "41"
"0000770916" "00001847" "70" "871" "0" "871" "0" "c.871C>G" "r.(?)" "p.(Pro291Ala)" "8"
"0000770917" "00001847" "90" "1751" "0" "1753" "0" "c.1751_1753delinsAT" "r.(?)" "p.(Ile584Asnfs*65)" "12"
"0000770918" "00001847" "90" "287" "0" "287" "0" "c.287del" "r.(?)" "p.(Asn96Thrfs*19)" "3"
"0000770919" "00001847" "70" "4457" "0" "4457" "0" "c.4457C>T" "r.(?)" "p.(Pro1486Leu)" "30"
"0000770920" "00001847" "90" "1755" "0" "1755" "0" "c.1755del" "r.(?)" "p.(Asp586Thrfs*63)" "12"
"0000770921" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000770922" "00001847" "90" "2481" "0" "2481" "0" "c.2481del" "r.(?)" "p.(Thr829Argfs*14)" "16"
"0000770923" "00001847" "90" "2888" "0" "2888" "0" "c.2888del" "r.(?)" "p.(Gly963Alafs*14)" "19"
"0000770924" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000770925" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000770926" "00001847" "90" "2041" "0" "2041" "0" "c.2041C>T" "r.(?)" "p.(Arg681*)" "14"
"0000770927" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000770928" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000770929" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000770930" "00001847" "90" "1819" "0" "1819" "0" "c.1819G>C" "r.(?)" "p.(Gly607Arg)" "13"
"0000770931" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000770932" "00001847" "70" "6410" "0" "6410" "0" "c.6410G>A" "r.(?)" "p.(Cys2137Tyr)" "47"
"0000770933" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000770934" "00001847" "90" "2041" "0" "2041" "0" "c.2041C>T" "r.(?)" "p.(Arg681*)" "14"
"0000770935" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000770936" "00001847" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408*)" "9"
"0000770937" "00001847" "90" "1751" "0" "1753" "0" "c.1751_1753delinsAT" "r.(?)" "p.(Ile584Asnfs*65)" "12"
"0000770938" "00001847" "90" "2888" "0" "2888" "0" "c.2888del" "r.(?)" "p.(Gly963Alafs*14)" "19"
"0000770939" "00001847" "70" "5819" "0" "5819" "0" "c.5819T>C" "r.(?)" "p.(Leu1940Pro)" "41"
"0000770940" "00001847" "90" "2041" "0" "2041" "0" "c.2041C>T" "r.(?)" "p.(Arg681*)" "14"
"0000770941" "00001847" "70" "5819" "0" "5819" "0" "c.5819T>C" "r.(?)" "p.(Leu1940Pro)" "41"
"0000770942" "00001847" "90" "2971" "0" "2971" "0" "c.2971G>C" "r.(?)" "p.(Gly991Arg)" "20"
"0000770943" "00001847" "50" "2023" "0" "2023" "0" "c.2023G>A" "r.(?)" "p.(Val675Ile)" "14"
"0000770944" "00001847" "90" "2888" "0" "2888" "0" "c.2888del" "r.(?)" "p.(Gly963Alafs*14)" "19"
"0000770945" "00001847" "70" "2285" "0" "2285" "0" "c.2285C>A" "r.(?)" "p.(Ala762Glu)" "15"
"0000770946" "00001847" "70" "4793" "0" "4793" "0" "c.4793C>A" "r.(?)" "p.(Ala1598Asp)" "34"
"0000770947" "00001847" "90" "3056" "0" "3056" "0" "c.3056C>T" "r.(?)" "p.(Thr1019Met)" "21"
"0000770948" "00001847" "90" "982" "0" "982" "0" "c.982G>T" "r.(?)" "p.(Glu328*)" "8"
"0000770949" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000770950" "00001847" "50" "4540" "-8" "4540" "-8" "c.4540-8T>C" "r.(?)" "p.(?)" "30i"
"0000770951" "00001847" "90" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973*)" "43"
"0000770952" "00001847" "50" "1715" "0" "1715" "0" "c.1715G>C" "r.(?)" "p.(Arg572Pro)" "12"
"0000770953" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000770954" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000770955" "00001847" "90" "2888" "0" "2888" "0" "c.2888del" "r.(?)" "p.(Gly963Alafs*14)" "19"
"0000770956" "00001847" "70" "5929" "0" "5929" "0" "c.5929G>A" "r.(?)" "p.(Gly1977Ser)" "43"
"0000770957" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000770958" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000770959" "00001847" "70" "4253" "4" "4253" "4" "c.4253+4C>T" "r.4129_4253del" "p.(Ile1377Hisfs*3)" "28i"
"0000770960" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000770961" "00001847" "90" "1957" "0" "1957" "0" "c.1957C>T" "r.(?)" "p.(Arg653Cys)" "14"
"0000770962" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000770963" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000770964" "00001847" "90" "2888" "0" "2888" "0" "c.2888del" "r.(?)" "p.(Gly963Alafs*14)" "19"
"0000770965" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000770966" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000770967" "00001847" "70" "611" "0" "611" "0" "c.611C>A" "r.(?)" "p.(Ala204Asp)" "6"
"0000770968" "00001847" "90" "4539" "2064" "4539" "2064" "c.4539+2064C>T" "r.[=,4539_4540ins4539+1891_4540-2162]" "p.[=,Arg1514Leufs*36]" "30i"
"0000770969" "00001847" "50" "1868" "0" "1868" "0" "c.1868A>G" "r.(?)" "p.(Gln623Arg)" "13"
"0000770970" "00001847" "70" "1832" "0" "1832" "0" "c.1832T>C" "r.(?)" "p.(Leu611Pro)" "13"
"0000770971" "00001847" "70" "223" "0" "223" "0" "c.223T>G" "r.(?)" "p.(Cys75Gly)" "3"
"0000770972" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000770973" "00001847" "90" "982" "0" "982" "0" "c.982G>T" "r.(?)" "p.(Glu328*)" "8"
"0000770974" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000770975" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000770976" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000770977" "00001847" "50" "4926" "0" "4926" "0" "c.4926C>G" "r.(?)" "p.(Ser1642Arg)" "35"
"0000770978" "00001847" "90" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071Cysfs*14)" "22"
"0000770979" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000770980" "00001847" "90" "1025" "0" "1038" "0" "c.1025_1038del" "r.(?)" "p.(Asp342Glyfs*6)" "8"
"0000770981" "00001847" "90" "1879" "0" "1879" "0" "c.1879G>T" "r.(?)" "p.(Glu627*)" "13"
"0000770982" "00001847" "90" "6088" "0" "6088" "0" "c.6088C>T" "r.(?)" "p.(Arg2030*)" "44"
"0000770983" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000770984" "00001847" "70" "5044" "0" "5058" "0" "c.5044_5058del" "r.(?)" "p.(Val1682_Val1686del)" "36"
"0000770985" "00001847" "70" "4222" "0" "4222" "0" "c.4222T>C" "r.(?)" "p.(Trp1408Arg)" "28"
"0000770986" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000770987" "00001847" "70" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.[=,5196_5197ins5196+1140_5196+1212]" "p.[=,Met1733Glufs*78]" "36i"
"0000770988" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000770989" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000770990" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000770991" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000770992" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000770993" "00001847" "90" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071Cysfs*14)" "22"
"0000770994" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000770995" "00001847" "90" "2888" "0" "2888" "0" "c.2888del" "r.(?)" "p.(Gly963Alafs*14)" "19"
"0000770996" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000770997" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000770998" "00001847" "70" "3383" "0" "3383" "0" "c.3383A>G" "r.(?)" "p.(Asp1128Gly)" "23"
"0000770999" "00001847" "70" "4254" "0" "4254" "0" "c.4254C>A" "r.spl?" "p.(Ser1418Arg)" "28i"
"0000771000" "00001847" "50" "2023" "0" "2023" "0" "c.2023G>A" "r.(?)" "p.(Val675Ile)" "14"
"0000771001" "00001847" "70" "2285" "0" "2285" "0" "c.2285C>A" "r.(?)" "p.(Ala762Glu)" "15"
"0000771002" "00001847" "70" "5549" "0" "5549" "0" "c.5549T>C" "r.(?)" "p.(Leu1850Pro)" "39"
"0000771003" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000771004" "00001847" "70" "4457" "0" "4457" "0" "c.4457C>T" "r.(?)" "p.(Pro1486Leu)" "30"
"0000771005" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000771006" "00001847" "70" "6179" "0" "6179" "0" "c.6179T>G" "r.(?)" "p.(Leu2060Arg)" "45"
"0000771007" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000771008" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000771009" "00001847" "70" "5819" "0" "5819" "0" "c.5819T>C" "r.(?)" "p.(Leu1940Pro)" "41"
"0000771010" "00001847" "70" "4457" "0" "4457" "0" "c.4457C>T" "r.(?)" "p.(Pro1486Leu)" "30"
"0000771011" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000771012" "00001847" "70" "1364" "0" "1364" "0" "c.1364T>A" "r.(?)" "p.(Leu455Gln)" "11"
"0000771013" "00001847" "70" "3383" "0" "3383" "0" "c.3383A>G" "r.(?)" "p.(Asp1128Gly)" "23"
"0000771014" "00001847" "90" "2483" "0" "2483" "0" "c.2483C>T" "r.(?)" "p.(Pro828Leu)" "16"
"0000771015" "00001847" "70" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" "44"
"0000771016" "00001847" "70" "3383" "0" "3383" "0" "c.3383A>G" "r.(?)" "p.(Asp1128Gly)" "23"
"0000771017" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000771018" "00001847" "70" "5384" "0" "5384" "0" "c.5384T>C" "r.(?)" "p.(Leu1795Ser)" "38"
"0000771019" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000771020" "00001847" "70" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" "35"
"0000771021" "00001847" "70" "3383" "0" "3383" "0" "c.3383A>G" "r.(?)" "p.(Asp1128Gly)" "23"
"0000771022" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000771023" "00001847" "90" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071Cysfs*14)" "22"
"0000771024" "00001847" "70" "3383" "0" "3383" "0" "c.3383A>G" "r.(?)" "p.(Asp1128Gly)" "23"
"0000771025" "00001847" "90" "1819" "0" "1819" "0" "c.1819G>C" "r.(?)" "p.(Gly607Arg)" "13"
"0000771026" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000771027" "00001847" "90" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071Cysfs*14)" "22"
"0000771028" "00001847" "90" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071Cysfs*14)" "22"
"0000771029" "00001847" "70" "428" "0" "428" "0" "c.428C>T" "r.(?)" "p.(Pro143Leu)" "4"
"0000771030" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000771031" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000771032" "00001847" "70" "2285" "0" "2285" "0" "c.2285C>A" "r.(?)" "p.(Ala762Glu)" "15"
"0000771033" "00001847" "50" "4926" "0" "4926" "0" "c.4926C>G" "r.(?)" "p.(Ser1642Arg)" "35"
"0000771034" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000771035" "00001847" "70" "6229" "0" "6229" "0" "c.6229C>T" "r.(?)" "p.(Arg2077Trp)" "45"
"0000771036" "00001847" "70" "1927" "0" "1927" "0" "c.1927G>A" "r.(?)" "p.(Val643Met)" "13"
"0000771037" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000771038" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000771039" "00001847" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408*)" "9"
"0000771040" "00001847" "90" "1025" "0" "1038" "0" "c.1025_1038del" "r.(?)" "p.(Asp342Glyfs*6)" "8"
"0000771041" "00001847" "70" "4457" "0" "4457" "0" "c.4457C>T" "r.(?)" "p.(Pro1486Leu)" "30"
"0000771042" "00001847" "70" "286" "0" "286" "0" "c.286A>G" "r.(?)" "p.(Asn96Asp)" "3"
"0000771043" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000771044" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000771045" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000771046" "00001847" "90" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071Cysfs*14)" "22"
"0000771047" "00001847" "50" "4322" "0" "4322" "0" "c.4322G>A" "r.(?)" "p.(Gly1441Asp)" "29"
"0000771048" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000771049" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000771050" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000771051" "00001847" "90" "2888" "0" "2888" "0" "c.2888del" "r.(?)" "p.(Gly963Alafs*14)" "19"
"0000771052" "00001847" "90" "5714" "1" "5714" "1" "c.5714+1G>A" "r.spl" "p.?" "40i"
"0000771053" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000771054" "00001847" "70" "5549" "0" "5549" "0" "c.5549T>C" "r.(?)" "p.(Leu1850Pro)" "39"
"0000771055" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000771056" "00001847" "90" "378" "0" "378" "0" "c.378G>A" "r.(?)" "p.(Trp126*)" "4"
"0000771057" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000771058" "00001847" "50" "2023" "0" "2023" "0" "c.2023G>A" "r.(?)" "p.(Val675Ile)" "14"
"0000771059" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000771060" "00001847" "90" "287" "0" "287" "0" "c.287del" "r.(?)" "p.(Asn96Thrfs*19)" "3"
"0000771061" "00001847" "90" "982" "0" "982" "0" "c.982G>T" "r.(?)" "p.(Glu328*)" "8"
"0000771062" "00001847" "70" "4457" "0" "4457" "0" "c.4457C>T" "r.(?)" "p.(Pro1486Leu)" "30"
"0000771063" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000771064" "00001847" "90" "3292" "0" "3292" "0" "c.3292C>T" "r.(?)" "p.(Arg1098Cys)" "22"
"0000771065" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000771066" "00001847" "70" "5819" "0" "5819" "0" "c.5819T>C" "r.(?)" "p.(Leu1940Pro)" "41"
"0000771067" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000771068" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000771069" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000771070" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000771071" "00001847" "90" "1766" "0" "1766" "0" "c.1766G>A" "r.(?)" "p.(Trp589*)" "13"
"0000771072" "00001847" "70" "874" "0" "874" "0" "c.874A>C" "r.(?)" "p.(Ser292Arg)" "8"
"0000771073" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000771074" "00001847" "90" "3056" "0" "3056" "0" "c.3056C>T" "r.(?)" "p.(Thr1019Met)" "21"
"0000771075" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000771076" "00001847" "90" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071Cysfs*14)" "22"
"0000771077" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000771078" "00001847" "90" "3988" "0" "3988" "0" "c.3988G>T" "r.(?)" "p.(Glu1330*)" "27"
"0000771079" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000771080" "00001847" "70" "3277" "0" "3277" "0" "c.3277G>A" "r.(?)" "p.(Asp1093Asn)" "22"
"0000771081" "00001847" "90" "3259" "0" "3259" "0" "c.3259G>A" "r.(?)" "p.(Glu1087Lys)" "22"
"0000771082" "00001847" "70" "32" "0" "32" "0" "c.32T>C" "r.(?)" "p.(Leu11Pro)" "1"
"0000771083" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000771084" "00001847" "70" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" "35"
"0000771085" "00001847" "70" "871" "0" "871" "0" "c.871C>G" "r.(?)" "p.(Pro291Ala)" "8"
"0000771086" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000771087" "00001847" "70" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" "35"
"0000771088" "00001847" "70" "214" "0" "214" "0" "c.214G>A" "r.(?)" "p.(Gly72Arg)" "3"
"0000771089" "00001847" "90" "3259" "0" "3259" "0" "c.3259G>A" "r.(?)" "p.(Glu1087Lys)" "22"
"0000771090" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000771091" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000771092" "00001847" "90" "768" "2" "768" "2" "c.768+2T>G" "r.spl" "p.?" "6i"
"0000771093" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000771094" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000771095" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000771096" "00001847" "70" "4919" "0" "4919" "0" "c.4919G>A" "r.(?)" "p.(Arg1640Gln)" "35"
"0000771097" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000771098" "00001847" "70" "4457" "0" "4457" "0" "c.4457C>T" "r.(?)" "p.(Pro1486Leu)" "30"
"0000771099" "00001847" "90" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071Cysfs*14)" "22"
"0000771100" "00001847" "70" "5318" "0" "5318" "0" "c.5318C>T" "r.(?)" "p.(Ala1773Val)" "38"
"0000771101" "00001847" "90" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071Cysfs*14)" "22"
"0000771102" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000771103" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000771104" "00001847" "70" "1609" "0" "1609" "0" "c.1609C>T" "r.(?)" "p.(Arg537Cys)" "12"
"0000771105" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000771106" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000771107" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000771108" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000771109" "00001847" "70" "1853" "0" "1853" "0" "c.1853G>T" "r.(?)" "p.(Gly1994Glu)" "13"
"0000771110" "00001847" "70" "4253" "43" "4253" "43" "c.4253+43G>A" "r.[=,4129_4253del]" "p.[=,Ile1377Hisfs*3]" "28i"
"0000771111" "00001847" "90" "1848" "0" "1848" "0" "c.1848del" "r.(?)" "p.(Glu616Aspfs*33)" "13"
"0000771112" "00001847" "50" "5413" "0" "5413" "0" "c.5413A>G" "r.(?)" "p.(Asn1805Asp)" "38"
"0000771113" "00001847" "90" "950" "0" "950" "0" "c.950del" "r.(?)" "p.(Gly317Alafs*57)" "8"
"0000771114" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000771115" "00001847" "90" "287" "0" "287" "0" "c.287del" "r.(?)" "p.(Asn96Thrfs*19)" "3"
"0000771116" "00001847" "70" "2285" "0" "2285" "0" "c.2285C>A" "r.(?)" "p.(Ala762Glu)" "15"
"0000771117" "00001847" "90" "3862" "1" "3862" "1" "c.3862+1G>A" "r.spl" "p.?" "26i"
"0000771118" "00001847" "90" "2888" "0" "2888" "0" "c.2888del" "r.(?)" "p.(Gly963Alafs*14)" "19"
"0000771119" "00001847" "70" "3287" "0" "3287" "0" "c.3287C>T" "r.(?)" "p.(Ser1096Leu)" "22"
"0000771120" "00001847" "90" "2568" "0" "2568" "0" "c.2568C>A" "r.(?)" "p.(Tyr856*)" "16"
"0000771121" "00001847" "90" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071Cysfs*14)" "22"
"0000771122" "00001847" "90" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071Cysfs*14)" "22"
"0000771123" "00001847" "90" "4537" "0" "4537" "0" "c.4537dup" "r.(?)" "p.(Gln1513Profs*42)" "30"
"0000771124" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000771125" "00001847" "70" "2878" "0" "2878" "0" "c.2878G>A" "r.(?)" "p.(Ala960Thr)" "19"
"0000771126" "00001847" "90" "671" "0" "671" "0" "c.671del" "r.(?)" "p.(Thr224Argfs*17)" "6"
"0000771127" "00001847" "90" "699" "0" "768" "341" "c.699_768+341del" "r.(?)" "p.(Gln234Phefs*5)" "6_6i"
"0000771128" "00001847" "90" "699" "0" "768" "341" "c.699_768+341del" "r.(?)" "p.(Gln234Phefs*5)" "6_6i"
"0000771129" "00001847" "90" "2888" "0" "2888" "0" "c.2888del" "r.(?)" "p.(Gly963Alafs*14)" "19"
"0000771130" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000771131" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000771132" "00001847" "70" "4253" "5" "4253" "5" "c.4253+5G>A" "r.4129_4253del" "p.(Ile1377Hisfs*3)" "28i"
"0000771133" "00001847" "70" "6179" "0" "6179" "0" "c.6179T>G" "r.(?)" "p.(Leu2060Arg)" "45"
"0000771134" "00001847" "90" "4773" "1" "4773" "1" "c.4773+1G>T" "r.spl" "p.?" "33i"
"0000771135" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000771136" "00001847" "70" "3420" "0" "3420" "0" "c.3420C>G" "r.(?)" "p.(Cys1140Trp)" "23"
"0000771137" "00001847" "70" "3190" "0" "3190" "0" "c.3190G>C" "r.spl?" "p.(Gly1064Arg,?)" "21"
"0000771138" "00001847" "90" "735" "0" "735" "0" "c.735T>G" "r.(?)" "p.(Tyr245*)" "6"
"0000771139" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000771140" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000771141" "00001847" "50" "1356" "5" "1356" "6" "c.1356+5_1356+6insC" "r.spl?" "p.(?)" "10i"
"0000771142" "00001847" "70" "3385" "0" "3385" "0" "c.3385C>T" "r.(?)" "p.(Arg1129Cys)" "23"
"0000771143" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000771144" "00001847" "90" "5196" "1" "5196" "1" "c.5196+1G>A" "r.spl" "p.?" "36i"
"0000771145" "00001847" "10" "2828" "0" "2828" "0" "c.2828G>A" "r.(?)" "p.(Arg943Gln)" "19"
"0000771146" "00001847" "70" "428" "0" "428" "0" "c.428C>T" "r.(?)" "p.(Pro143Leu)" "4"
"0000771147" "00001847" "70" "6729" "5" "6729" "19" "c.6729+5_6729+19del" "r.6480_6729del" "p.(Phe2161Cysfs*3)" "48i"
"0000771148" "00001847" "70" "4919" "0" "4919" "0" "c.4919G>A" "r.(?)" "p.(Arg1640Gln)" "35"
"0000771149" "00001847" "70" "4457" "0" "4457" "0" "c.4457C>T" "r.(?)" "p.(Pro1486Leu)" "30"
"0000771150" "00001847" "70" "6221" "0" "6221" "0" "c.6221G>A" "r.(?)" "p.(Gly2074Asp)" "45"
"0000771151" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000771152" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000771153" "00001847" "70" "6563" "0" "6563" "0" "c.6563T>C" "r.(?)" "p.(Phe2188Ser)" "48"
"0000771154" "00001847" "70" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" "31"
"0000771155" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000771156" "00001847" "90" "2971" "0" "2971" "0" "c.2971G>C" "r.(?)" "p.(Gly991Arg)" "20"
"0000771157" "00001847" "50" "6148" "0" "6148" "0" "c.6148G>C" "r.=" "p.(Val2050Leu)" "45"
"0000771158" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000771159" "00001847" "50" "6119" "0" "6119" "0" "c.6119G>A" "r.(?)" "p.(Arg2040Gln)" "44"
"0000771160" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000771161" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000771162" "00001847" "90" "2424" "0" "2424" "0" "c.2424C>G" "r.(?)" "p.(Tyr808*)" "16"
"0000771163" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000771164" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000771165" "00001847" "50" "5056" "0" "5056" "0" "c.5056G>A" "r.(?)" "p.(Val1686Met)" "36"
"0000771166" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000771167" "00001847" "90" "5391" "0" "5392" "0" "c.5391_5392del" "r.(?)" "p.(Ala1798*)" "38"
"0000771168" "00001847" "70" "4867" "0" "4867" "0" "c.4867G>C" "r.(?)" "p.(Gly1623Arg)" "35"
"0000771169" "00001847" "90" "1630" "0" "1633" "0" "c.1630_1633dup" "r.(?)" "p.(Asn545Argfs*12)" "12"
"0000771170" "00001847" "90" "1630" "0" "1633" "0" "c.1630_1633dup" "r.(?)" "p.(Asn545Argfs*12)" "12"
"0000771171" "00001847" "90" "2815" "0" "2815" "0" "c.2815G>T" "r.(?)" "p.(Glu939*)" "19"
"0000771172" "00001847" "90" "1630" "0" "1633" "0" "c.1630_1633dup" "r.(?)" "p.(Asn545Argfs*12)" "12"
"0000771173" "00001847" "50" "1532" "0" "1532" "0" "c.1532G>A" "r.(?)" "p.(Arg511His)" "11"
"0000771174" "00001847" "50" "1140" "0" "1140" "0" "c.1140T>A" "r.(?)" "p.(Asn380Lys)" "9"
"0000771175" "00001847" "90" "6286" "0" "6286" "0" "c.6286G>A" "r.(?)" "p.(Glu2096Lys)" "46"
"0000771176" "00001847" "70" "4852" "0" "4852" "0" "c.4852T>A" "r.(?)" "p.(Trp1618Arg)" "35"
"0000771177" "00001847" "70" "4867" "0" "4867" "0" "c.4867G>C" "r.(?)" "p.(Gly1623Arg)" "35"
"0000771178" "00001847" "90" "5391" "0" "5392" "0" "c.5391_5392del" "r.(?)" "p.(Ala1798*)" "38"
"0000771179" "00001847" "70" "2294" "0" "2294" "0" "c.2294G>A" "r.(?)" "p.(Ser765Asn)" "15"
"0000771180" "00001847" "50" "4342" "0" "4342" "0" "c.4342G>A" "r.(?)" "p.(Gly1448Arg)" "29"
"0000771181" "00001847" "70" "70" "0" "70" "0" "c.70C>T" "r.(?)" "p.[IIe23IIefs*30,=]" "2"
"0000771182" "00001847" "90" "655" "0" "655" "0" "c.655A>T" "r.(?)" "p.(Arg219*)" "6"
"0000771183" "00001847" "70" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.[=,5196_5197ins5196+1140_5196+1212]" "p.[=,Met1733Glufs*78]" "36i"
"0000771184" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000771185" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000771186" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000771187" "00001847" "50" "1532" "0" "1532" "0" "c.1532G>A" "r.(?)" "p.(Arg511His)" "11"
"0000771188" "00001847" "50" "1140" "0" "1140" "0" "c.1140T>A" "r.(?)" "p.(Asn380Lys)" "9"
"0000771189" "00001847" "90" "1630" "0" "1633" "0" "c.1630_1633dup" "r.(?)" "p.(Asn545Argfs*12)" "12"
"0000771190" "00001847" "90" "2815" "0" "2815" "0" "c.2815G>T" "r.(?)" "p.(Glu939*)" "19"
"0000771191" "00001847" "90" "6286" "0" "6286" "0" "c.6286G>A" "r.(?)" "p.(Glu2096Lys)" "46"
"0000771192" "00001847" "90" "5391" "0" "5392" "0" "c.5391_5392del" "r.(?)" "p.(Ala1798*)" "38"
"0000771193" "00001847" "70" "4852" "0" "4852" "0" "c.4852T>A" "r.(?)" "p.(Trp1618Arg)" "35"
"0000771194" "00001847" "70" "4867" "0" "4867" "0" "c.4867G>C" "r.(?)" "p.(Gly1623Arg)" "35"
"0000771195" "00001847" "90" "3098" "0" "3098" "0" "c.3098del" "r.(?)" "p.(Lys1033Serfs*51)" "21"
"0000771196" "00001847" "90" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973*)" "43"
"0000771197" "00001847" "70" "6449" "0" "6449" "0" "c.6449G>A" "r.(?)" "p.(Cys2150Tyr)" "47"
"0000771198" "00001847" "70" "1609" "0" "1609" "0" "c.1609C>T" "r.(?)" "p.(Arg537Cys)" "12"
"0000771199" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000771200" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000771201" "00001847" "90" "5316" "0" "5316" "0" "c.5316G>A" "r.(?)" "p.(Trp1772*)" "38"
"0000771202" "00001847" "50" "2690" "0" "2690" "0" "c.2690C>T" "r.(?)" "p.(Thr897Ile)" "18"
"0000771203" "00001847" "90" "3342" "0" "3342" "0" "c.3342del" "r.(?)" "p.(Met1115Cysfs*33)" "23"
"0000771204" "00001847" "70" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" "31"
"0000771205" "00001847" "90" "1906" "0" "1906" "0" "c.1906C>T" "r.(?)" "p.(Gln636*)" "13"
"0000771206" "00001847" "70" "5170" "0" "5170" "0" "c.5170T>C" "r.(?)" "p.(Trp1724Arg)" "36"
"0000771207" "00001847" "50" "5908" "0" "5908" "0" "c.5908C>T" "r.(?)" "p.(Leu1970Phe)" "43"
"0000771208" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000771209" "00001847" "70" "6107" "0" "6107" "0" "c.6107A>G" "r.(?)" "p.(Tyr2036Cys)" "44"
"0000771210" "00001847" "90" "6658" "0" "6658" "0" "c.6658C>T" "r.(?)" "p.(Gln2220*)" "48"
"0000771211" "00001847" "90" "3259" "0" "3259" "0" "c.3259G>A" "r.(?)" "p.(Glu1087Lys)" "22"
"0000771212" "00001847" "50" "4326" "0" "4326" "0" "c.4326C>A" "r.(?)" "p.(Asn1442Lys)" "29"
"0000771213" "00001847" "90" "1906" "0" "1906" "0" "c.1906C>T" "r.(?)" "p.(Gln636*)" "13"
"0000771214" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000771215" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000771216" "00001847" "70" "4873" "0" "4873" "0" "c.4873C>T" "r.(?)" "p.(His1625Tyr)" "35"
"0000771217" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000771218" "00001847" "90" "1988" "0" "1988" "0" "c.1988G>A" "r.(?)" "p.(Trp663*)" "14"
"0000771219" "00001847" "70" "5381" "0" "5381" "0" "c.5381C>A" "r.(?)" "p.(Ala1794Asp)" "38"
"0000771220" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000771221" "00001847" "70" "6122" "0" "6122" "0" "c.6122G>A" "r.(?)" "p.(Gly2041Asp)" "44"
"0000771222" "00001847" "70" "6179" "0" "6179" "0" "c.6179T>G" "r.(?)" "p.(Leu2060Arg)" "45"
"0000771223" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000771224" "00001847" "70" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" "35"
"0000771225" "00001847" "90" "6658" "0" "6658" "0" "c.6658C>T" "r.(?)" "p.(Gln2220*)" "48"
"0000771226" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000771227" "00001847" "70" "3364" "0" "3364" "0" "c.3364G>A" "r.(?)" "p.(Glu1122Lys)" "23"
"0000771228" "00001847" "70" "2915" "0" "2915" "0" "c.2915C>A" "r.(?)" "p.(Thr972Asn)" "19"
"0000771229" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000771230" "00001847" "50" "2813" "0" "2813" "0" "c.2813T>C" "r.(?)" "p.(Phe938Ser)" "19"
"0000771231" "00001847" "70" "6226" "0" "6226" "0" "c.6226A>G" "r.(?)" "p.(Lys2076Glu)" "45"
"0000771232" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000771233" "00001847" "90" "885" "0" "885" "0" "c.885del" "r.(?)" "p.(Leu296Cysfs*4)" "8"
"0000771234" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000771235" "00001847" "70" "6098" "0" "6098" "0" "c.6098T>G" "r.(?)" "p.(Leu2033Arg)" "44"
"0000771236" "00001847" "90" "6088" "0" "6088" "0" "c.6088C>T" "r.(?)" "p.(Arg2030*)" "44"
"0000771237" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000771238" "00001847" "90" "3081" "0" "3081" "0" "c.3081T>G" "r.(?)" "p.(Tyr1027*)" "21"
"0000771239" "00001847" "50" "5932" "0" "5932" "0" "c.5932A>G" "r.(?)" "p.(Lys1978Glu)" "43"
"0000771240" "00001847" "70" "3364" "0" "3364" "0" "c.3364G>A" "r.(?)" "p.(Glu1122Lys)" "23"
"0000771241" "00001847" "70" "719" "0" "719" "0" "c.719T>G" "r.(?)" "p.(Ile240Arg)" "6"
"0000771242" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000771243" "00001847" "50" "6148" "0" "6148" "0" "c.6148G>C" "r.=" "p.(Val2050Leu)" "45"
"0000771244" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000771245" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000771246" "00001847" "90" "5018" "5" "5018" "5" "c.5018+5G>A" "r.4849_5018del" "p.(Val1617Alafs*113)" "35i"
"0000771247" "00001847" "70" "4363" "0" "4363" "0" "c.4363T>C" "r.(?)" "p.(Cys1455Arg)" "30"
"0000771248" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000771249" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000771250" "00001847" "70" "5088" "0" "5088" "0" "c.5088C>G" "r.(?)" "p.(Ser1696Arg)" "36"
"0000771251" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000771252" "00001847" "90" "1984" "0" "1984" "0" "c.1984dup" "r.(?)" "p.(Ala662Glyfs*104)" "14"
"0000771253" "00001847" "90" "5315" "0" "5315" "0" "c.5315G>A" "r.(?)" "p.(Trp1772*)" "38"
"0000771254" "00001847" "70" "4727" "0" "4727" "0" "c.4727T>G" "r.(?)" "p.(Leu1576Arg)" "33"
"0000771255" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000771256" "00001847" "90" "3303" "0" "3303" "0" "c.3303G>A" "r.(?)" "p.(Trp1101*)" "22"
"0000771257" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000771258" "00001847" "90" "6658" "0" "6658" "0" "c.6658C>T" "r.(?)" "p.(Gln2220*)" "48"
"0000771259" "00001847" "70" "5463" "0" "5463" "0" "c.5463G>A" "r.spl?" "p.(Thr1821=,?)" "38"
"0000771260" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000771261" "00001847" "70" "6449" "0" "6449" "0" "c.6449G>A" "r.(?)" "p.(Cys2150Tyr)" "47"
"0000771262" "00001847" "50" "4519" "0" "4519" "0" "c.4519G>A" "r.(?)" "p.(Gly1507Arg)" "30"
"0000771263" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000771264" "00001847" "70" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.[=,5196_5197ins5196+1140_5196+1212]" "p.[=,Met1733Glufs*78]" "36i"
"0000771265" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000771266" "00001847" "50" "6098" "0" "6098" "0" "c.6098T>C" "r.(?)" "p.(Leu2033Pro)" "44"
"0000771267" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000771268" "00001847" "70" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.[=,5196_5197ins5196+1140_5196+1212]" "p.[=,Met1733Glufs*78]" "36i"
"0000771269" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000771270" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000771271" "00001847" "70" "3064" "0" "3064" "0" "c.3064G>A" "r.(?)" "p.(Glu1022Lys)" "21"
"0000771272" "00001847" "70" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.[=,5196_5197ins5196+1140_5196+1212]" "p.[=,Met1733Glufs*78]" "36i"
"0000771273" "00001847" "70" "6729" "5" "6729" "19" "c.6729+5_6729+19del" "r.6480_6729del" "p.(Phe2161Cysfs*3)" "48i"
"0000771274" "00001847" "90" "6445" "0" "6445" "0" "c.6445C>T" "r.(?)" "p.(Arg2149*)" "47"
"0000771275" "00001847" "90" "4537" "0" "4537" "0" "c.4537dup" "r.(?)" "p.(Gln1513Profs*42)" "30"
"0000771276" "00001847" "90" "5161" "0" "5162" "0" "c.5161_5162del" "r.(?)" "p.(Thr1721Hisfs*65)" "36"
"0000771277" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000771278" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000771279" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000771280" "00001847" "70" "6342" "0" "6342" "0" "c.6342G>A" "r.(?)" "p.(=)" "46"
"0000771281" "00001847" "90" "5018" "2" "5018" "2" "c.5018+2T>C" "r.spl" "p.?" "35i"
"0000771282" "00001847" "50" "5516" "0" "5516" "0" "c.5516T>C" "r.(?)" "p.(Phe1839Ser)" "39"
"0000771283" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000771284" "00001847" "90" "6329" "0" "6329" "0" "c.6329G>A" "r.(?)" "p.(Trp2110*)" "46"
"0000771285" "00001847" "70" "4919" "0" "4919" "0" "c.4919G>A" "r.(?)" "p.(Arg1640Gln)" "35"
"0000771286" "00001847" "70" "4538" "0" "4538" "0" "c.4538A>G" "r.[4539_4540ins4540+1_4530+30,4467_4539del]" "p.(Arg1513_Arg1514ins10,Cys1490Glufs*12)" "30"
"0000771287" "00001847" "70" "2915" "0" "2915" "0" "c.2915C>A" "r.(?)" "p.(Thr972Asn)" "19"
"0000771288" "00001847" "90" "2966" "0" "2966" "0" "c.2966T>C" "r.(?)" "p.(Val989Ala)" "20"
"0000771289" "00001847" "70" "6449" "0" "6449" "0" "c.6449G>A" "r.(?)" "p.(Cys2150Tyr)" "47"
"0000771290" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000771291" "00001847" "70" "6229" "0" "6229" "0" "c.6229C>T" "r.(?)" "p.(Arg2077Trp)" "45"
"0000771292" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000771293" "00001847" "90" "1497" "0" "1497" "0" "c.1497G>A" "r.(?)" "p.(Trp499*)" "11"
"0000771294" "00001847" "90" "6658" "0" "6658" "0" "c.6658C>T" "r.(?)" "p.(Gln2220*)" "48"
"0000771295" "00001847" "90" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973*)" "43"
"0000771296" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000771297" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000771298" "00001847" "90" "2099" "0" "2099" "0" "c.2099G>A" "r.(?)" "p.(Trp700*)" "14"
"0000771299" "00001847" "90" "2099" "0" "2099" "0" "c.2099G>A" "r.(?)" "p.(Trp700*)" "14"
"0000771300" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000771301" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000771302" "00001847" "70" "2461" "0" "2461" "0" "c.2461T>A" "r.(?)" "p.(Trp821Arg)" "16"
"0000771303" "00001847" "90" "6445" "0" "6445" "0" "c.6445C>T" "r.(?)" "p.(Arg2149*)" "47"
"0000771304" "00001847" "70" "2842" "0" "2842" "0" "c.2842C>T" "r.(?)" "p.(Arg948Cys)" "19"
"0000771305" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000771306" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000771307" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000771308" "00001847" "70" "5285" "0" "5285" "0" "c.5285C>A" "r.(?)" "p.(Ala1762Asp)" "37"
"0000771309" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000771310" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000771311" "00001847" "70" "1822" "0" "1822" "0" "c.1822T>A" "r.(?)" "p.(Phe608Ile)" "13"
"0000771312" "00001847" "70" "6729" "5" "6729" "19" "c.6729+5_6729+19del" "r.6480_6729del" "p.(Phe2161Cysfs*3)" "48i"
"0000771313" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000771314" "00001847" "70" "5584" "6" "5584" "6" "c.5584+6T>C" "r.[5461_5714del,5461_5584del,5585_5714]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13,Glu1863Leufs*33]" "39i"
"0000771315" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000771316" "00001847" "70" "1822" "0" "1822" "0" "c.1822T>A" "r.(?)" "p.(Phe608Ile)" "13"
"0000771317" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.[(768g>u;768_769ins768+1_768+35)]" "p.(Leu257Valfs*17)" "6"
"0000771318" "00001847" "70" "6083" "0" "6083" "0" "c.6083C>T" "r.(?)" "p.(Thr2028Ile)" "44"
"0000771319" "00001847" "70" "3364" "0" "3364" "0" "c.3364G>A" "r.(?)" "p.(Glu1122Lys)" "23"
"0000771320" "00001847" "70" "5318" "0" "5318" "0" "c.5318C>T" "r.(?)" "p.(Ala1773Val)" "38"
"0000771321" "00001847" "90" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973*)" "43"
"0000771322" "00001847" "50" "6119" "0" "6119" "0" "c.6119G>A" "r.(?)" "p.(Arg2040Gln)" "44"
"0000771323" "00001847" "70" "1749" "0" "1749" "0" "c.1749G>C" "r.(?)" "p.(Lys583Asn)" "12"
"0000771324" "00001847" "70" "4363" "0" "4363" "0" "c.4363T>C" "r.(?)" "p.(Cys1455Arg)" "30"
"0000771325" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000771326" "00001847" "90" "6088" "0" "6088" "0" "c.6088C>T" "r.(?)" "p.(Arg2030*)" "44"
"0000771327" "00001847" "70" "5318" "0" "5318" "0" "c.5318C>T" "r.(?)" "p.(Ala1773Val)" "38"
"0000771328" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000771329" "00001847" "50" "6289" "0" "6289" "0" "c.6289C>T" "r.(?)" "p.(Pro2097Ser)" "46"
"0000771330" "00001847" "70" "6083" "0" "6083" "0" "c.6083C>T" "r.(?)" "p.(Thr2028Ile)" "44"
"0000771331" "00001847" "70" "5501" "0" "5501" "0" "c.5501T>C" "r.(?)" "p.(Ile1834Thr)" "39"
"0000771332" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000771333" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000771334" "00001847" "70" "6563" "0" "6563" "0" "c.6563T>C" "r.(?)" "p.(Phe2188Ser)" "48"
"0000771335" "00001847" "90" "6415" "0" "6415" "0" "c.6415C>T" "r.(?)" "p.(Arg2139Trp)" "47"
"0000771336" "00001847" "70" "6386" "0" "6386" "0" "c.6386G>A" "r.spl?" "p.(Ser2129Asn)" "46"
"0000771337" "00001847" "70" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" "44"
"0000771338" "00001847" "90" "6077" "0" "6077" "0" "c.6077del" "r.(?)" "p.(Leu2026Argfs*35)" "44"
"0000771339" "00001847" "70" "5929" "0" "5929" "0" "c.5929G>A" "r.(?)" "p.(Gly1977Ser)" "43"
"0000771340" "00001847" "90" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973*)" "43"
"0000771341" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000771342" "00001847" "50" "5822" "0" "5822" "0" "c.5822A>C" "r.(?)" "p.(His1941Pro)" "41"
"0000771343" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000771344" "00001847" "90" "5460" "1" "5460" "1" "c.5460+1G>A" "r.spl" "p.?" "38i"
"0000771345" "00001847" "70" "5380" "0" "5380" "0" "c.5380G>C" "r.(?)" "p.(Ala1794Pro)" "38"
"0000771346" "00001847" "70" "5351" "0" "5351" "0" "c.5351T>G" "r.(?)" "p.(Leu1784Arg)" "38"
"0000771347" "00001847" "90" "5333" "0" "5336" "0" "c.5333_5336del" "r.(?)" "p.(Met1778Thrfs*51)" "38"
"0000771348" "00001847" "70" "5318" "0" "5318" "0" "c.5318C>T" "r.(?)" "p.(Ala1773Val)" "38"
"0000771349" "00001847" "90" "5312" "1" "5312" "1" "c.5312+1G>A" "r.spl" "p.?" "37i"
"0000771350" "00001847" "90" "5189" "0" "5189" "0" "c.5189G>A" "r.(?)" "p.(Trp1730*)" "36"
"0000771351" "00001847" "90" "5169" "0" "5169" "0" "c.5169C>G" "r.(?)" "p.(Tyr1723*)" "36"
"0000771352" "00001847" "90" "5059" "0" "5059" "0" "c.5059del" "r.(?)" "p.(Ile1687Phefs*15)" "36"
"0000771353" "00001847" "50" "5056" "0" "5056" "0" "c.5056G>A" "r.(?)" "p.(Val1686Met)" "36"
"0000771354" "00001847" "70" "4979" "0" "4979" "0" "c.4979C>T" "r.(?)" "p.(Pro1660Leu)" "35"
"0000771355" "00001847" "70" "4919" "0" "4919" "0" "c.4919G>A" "r.(?)" "p.(Arg1640Gln)" "35"
"0000771356" "00001847" "90" "4895" "0" "4895" "0" "c.4895dup" "r.(?)" "p.(Asn1632Lysfs*14)" "35"
"0000771357" "00001847" "70" "4793" "0" "4793" "0" "c.4793C>A" "r.(?)" "p.(Ala1598Asp)" "34"
"0000771358" "00001847" "70" "4594" "0" "4594" "0" "c.4594G>A" "r.(?)" "p.(Asp1532Asn)" "31"
"0000771359" "00001847" "70" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" "31"
"0000771360" "00001847" "90" "4537" "0" "4537" "0" "c.4537dup" "r.(?)" "p.(Gln1513Profs*42)" "30"
"0000771361" "00001847" "70" "4457" "0" "4457" "0" "c.4457C>T" "r.(?)" "p.(Pro1486Leu)" "30"
"0000771362" "00001847" "50" "4297" "0" "4297" "0" "c.4297G>A" "r.(?)" "p.(Val1433Ile)" "29"
"0000771363" "00001847" "90" "4254" "-1" "4254" "-1" "c.4254-1G>A" "r.spl" "p.?" "28i"
"0000771364" "00001847" "50" "4254" "-15" "4261" "0" "c.4254-15_4261del" "r.(?)" "p.(?)" "28i"
"0000771365" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000771366" "00001847" "70" "3608" "0" "3608" "0" "c.3608G>A" "r.[3608g>a,3608_3813del]" "p.[Gly1203Glu,Gly1203Aspfs*10]" "25"
"0000771367" "00001847" "50" "3449" "0" "3451" "0" "c.3449_3451del" "r.(?)" "p.(Cys1150del)" "23"
"0000771368" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000771369" "00001847" "90" "3056" "0" "3056" "0" "c.3056C>T" "r.(?)" "p.(Thr1019Met)" "21"
"0000771370" "00001847" "70" "3050" "5" "3050" "5" "c.3050+5G>A" "r.2919_3050del" "p.(Leu973_His1017delinsPhe)" "20i"
"0000771371" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000771372" "00001847" "50" "2791" "0" "2791" "0" "c.2791G>A" "r.(?)" "p.(Val931Met)" "19"
"0000771373" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000771374" "00001847" "70" "2294" "0" "2294" "0" "c.2294G>A" "r.(?)" "p.(Ser765Asn)" "15"
"0000771375" "00001847" "50" "1928" "0" "1928" "0" "c.1928T>G" "r.(?)" "p.(Val643Gly)" "13"
"0000771376" "00001847" "50" "1846" "0" "1846" "0" "c.1846G>A" "r.(?)" "p.(Glu616Lys)" "13"
"0000771377" "00001847" "70" "1758" "0" "1758" "0" "c.1758C>A" "r.(?)" "p.(Asp586Glu)" "12"
"0000771378" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000771379" "00001847" "50" "1411" "0" "1411" "0" "c.1411G>A" "r.(?)" "p.(Glu471Lys)" "11"
"0000771380" "00001847" "90" "1172" "0" "1172" "0" "c.1172del" "r.(?)" "p.(Lys391Serfs*4)" "9"
"0000771381" "00001847" "50" "1140" "0" "1140" "0" "c.1140T>A" "r.(?)" "p.(Asn380Lys)" "9"
"0000771382" "00001847" "70" "997" "0" "997" "0" "c.997C>T" "r.(?)" "p.(Arg333Trp)" "8"
"0000771383" "00001847" "50" "839" "0" "839" "0" "c.839T>C" "r.(?)" "p.(Met280Thr)" "7"
"0000771384" "00001847" "90" "834" "0" "834" "0" "c.834del" "r.(?)" "p.(Asp279Ilefs*21)" "7"
"0000771385" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000771386" "00001847" "70" "560" "0" "560" "0" "c.560G>A" "r.(?)" "p.(Arg187His)" "5"
"0000771387" "00001847" "70" "559" "0" "559" "0" "c.559C>T" "r.(?)" "p.(Arg187Cys)" "5"
"0000771388" "00001847" "50" "466" "0" "466" "0" "c.466A>G" "r.(?)" "p.(Ile156Val)" "5"
"0000771389" "00001847" "70" "452" "0" "452" "0" "c.452T>C" "r.(?)" "p.(Ile151Thr)" "5"
"0000771390" "00001847" "90" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.(Met1Val)" "1"
"0000771391" "00001847" "90" "2888" "0" "2888" "0" "c.2888del" "r.(?)" "p.(Gly963Alafs*14)" "19"
"0000771392" "00001847" "90" "950" "0" "950" "0" "c.950del" "r.(?)" "p.(Gly317Alafs*57)" "8"
"0000771393" "00001847" "70" "5512" "0" "5512" "0" "c.5512C>T" "r.(?)" "p.(His1838Tyr)" "39"
"0000771394" "00001847" "70" "2947" "0" "2947" "0" "c.2947A>G" "r.(?)" "p.(Thr983Ala)" "20"
"0000771395" "00001847" "70" "4773" "5" "4773" "5" "c.4773+5G>A" "r.[4668_4773del,4668_5018del]" "p.[Tyr1557Alafs*18,Tyr1557_Val1673del]" "33i"
"0000771396" "00001847" "70" "6563" "0" "6563" "0" "c.6563T>C" "r.(?)" "p.(Phe2188Ser)" "48"
"0000771397" "00001847" "70" "6050" "0" "6050" "0" "c.6050G>A" "r.(?)" "p.(Cys2017Tyr)" "44"
"0000771398" "00001847" "70" "3610" "0" "3610" "0" "c.3610G>A" "r.(?)" "p.(Asp1204Asn)" "25"
"0000771399" "00001847" "70" "2294" "0" "2294" "0" "c.2294G>A" "r.(?)" "p.(Ser765Asn)" "15"
"0000771400" "00001847" "70" "3482" "0" "3482" "0" "c.3482G>A" "r.(?)" "p.(Arg1161His)" "23"
"0000771401" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000771402" "00001847" "70" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" "31"
"0000771403" "00001847" "70" "1648" "0" "1648" "0" "c.1648G>C" "r.(?)" "p.(Gly550Arg)" "12"
"0000771404" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000771405" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000771406" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000771407" "00001847" "70" "4842" "0" "4842" "0" "c.4842C>G" "r.(?)" "p.(Asn1614Lys)" "34"
"0000771408" "00001847" "70" "6478" "0" "6478" "0" "c.6478A>G" "r.[6478a>g,6387_6479del]" "p.[Lys2160Glu,Ser2129_Lys2160delinsArg]" "47"
"0000771409" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000771410" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000771411" "00001847" "50" "5693" "0" "5693" "0" "c.5693G>A" "r.(?)" "p.(Arg1898His)" "40"
"0000771412" "00001847" "90" "2408" "0" "2408" "0" "c.2408del" "r.(?)" "p.(Gly803Aspfs*40)" "16"
"0000771413" "00001847" "70" "1529" "0" "1529" "0" "c.1529T>G" "r.(?)" "p.(Leu510Arg)" "11"
"0000771414" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000771415" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000771416" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000771417" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000771418" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000771419" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000771420" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000771421" "00001847" "90" "2408" "0" "2408" "0" "c.2408del" "r.(?)" "p.(Gly803Aspfs*40)" "16"
"0000771422" "00001847" "90" "2680" "0" "2680" "0" "c.2680dup" "r.(?)" "p.(Leu894Profs*26)" "18"
"0000771423" "00001847" "50" "4926" "0" "4926" "0" "c.4926C>G" "r.(?)" "p.(Ser1642Arg)" "35"
"0000771424" "00001847" "50" "4685" "0" "4685" "0" "c.4685T>C" "r.(?)" "p.(Ile1562Thr)" "33"
"0000771425" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000771426" "00001847" "90" "2613" "0" "2613" "0" "c.2613G>A" "r.(?)" "p.(Trp871*)" "17"
"0000771427" "00001847" "70" "6454" "0" "6454" "0" "c.6454G>T" "r.(?)" "p.(Gly2152Cys)" "47"
"0000771428" "00001847" "90" "5316" "0" "5316" "0" "c.5316G>A" "r.(?)" "p.(Trp1772*)" "38"
"0000771429" "00001847" "70" "5528" "0" "5533" "0" "c.5528_5533del" "r.(?)" "p.(Arg1843_Gly1844del)" "39"
"0000771430" "00001847" "70" "1719" "0" "1719" "0" "c.1719G>A" "r.(?)" "p.(Met573Ile)" "12"
"0000771431" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000771432" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000771433" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000771434" "00001847" "70" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" "35"
"0000771435" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000771436" "00001847" "70" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" "44"
"0000771437" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000771438" "00001847" "90" "6319" "0" "6319" "0" "c.6319C>T" "r.(?)" "p.(Arg2107Cys)" "46"
"0000771439" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000771440" "00001847" "70" "4919" "0" "4919" "0" "c.4919G>A" "r.(?)" "p.(Arg1640Gln)" "35"
"0000771441" "00001847" "70" "2537" "0" "2537" "0" "c.2537A>T" "r.(?)" "p.(Asp846Val)" "16"
"0000771442" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000771443" "00001847" "90" "1819" "0" "1819" "0" "c.1819G>A" "r.(?)" "p.(Gly607Arg)" "13"
"0000771444" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000771445" "00001847" "50" "5693" "0" "5693" "0" "c.5693G>A" "r.(?)" "p.(Arg1898His)" "40"
"0000771446" "00001847" "70" "6229" "0" "6229" "0" "c.6229C>T" "r.(?)" "p.(Arg2077Trp)" "45"
"0000771447" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000771448" "00001847" "70" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" "35"
"0000771449" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000771450" "00001847" "70" "2895" "0" "2895" "0" "c.2895T>G" "r.(?)" "p.(Asn965Lys)" "19"
"0000771451" "00001847" "70" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" "44"
"0000771452" "00001847" "70" "4842" "0" "4842" "0" "c.4842C>G" "r.(?)" "p.(Asn1614Lys)" "34"
"0000771453" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000771454" "00001847" "50" "6148" "0" "6148" "0" "c.6148G>C" "r.=" "p.(Val2050Leu)" "45"
"0000771455" "00001847" "50" "5693" "0" "5693" "0" "c.5693G>A" "r.(?)" "p.(Arg1898His)" "40"
"0000771456" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000771457" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000771458" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000771459" "00001847" "90" "6118" "0" "6118" "0" "c.6118C>T" "r.(?)" "p.(Arg2040*)" "44"
"0000771460" "00001847" "90" "6088" "0" "6088" "0" "c.6088C>T" "r.(?)" "p.(Arg2030*)" "44"
"0000771461" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000771462" "00001847" "90" "1819" "0" "1819" "0" "c.1819G>A" "r.(?)" "p.(Gly607Arg)" "13"
"0000771463" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000771464" "00001847" "70" "2453" "0" "2453" "0" "c.2453G>A" "r.(?)" "p.(Gly818Glu)" "16"
"0000771465" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000771466" "00001847" "90" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071Cysfs*14)" "22"
"0000771467" "00001847" "70" "214" "0" "214" "0" "c.214G>A" "r.(?)" "p.(Gly72Arg)" "3"
"0000771468" "00001847" "50" "2701" "0" "2701" "0" "c.2701A>G" "r.(?)" "p.(Thr901Ala)" "18"
"0000771469" "00001847" "50" "4685" "0" "4685" "0" "c.4685T>C" "r.(?)" "p.(Ile1562Thr)" "33"
"0000771470" "00001847" "50" "4685" "0" "4685" "0" "c.4685T>C" "r.(?)" "p.(Ile1562Thr)" "33"
"0000771471" "00001847" "90" "4222" "0" "4222" "0" "c.4222del" "r.(?)" "p.(Trp1408Glyfs*28)" "28"
"0000771472" "00001847" "90" "2408" "0" "2408" "0" "c.2408del" "r.(?)" "p.(Gly803Aspfs*40)" "16"
"0000771473" "00001847" "50" "4326" "0" "4326" "0" "c.4326C>A" "r.(?)" "p.(Asn1442Lys)" "29"
"0000771474" "00001847" "90" "885" "0" "885" "0" "c.885del" "r.(?)" "p.(Leu296Cysfs*4)" "8"
"0000771475" "00001847" "70" "4773" "3" "4773" "3" "c.4773+3A>G" "r.[4668_4773del,=]" "p.[Tyr1557Alafs*18,=]" "33i"
"0000771476" "00001847" "70" "3385" "0" "3385" "0" "c.3385C>T" "r.(?)" "p.(Arg1129Cys)" "23"
"0000771477" "00001847" "70" "983" "0" "983" "0" "c.983A>T" "r.(?)" "p.(Glu328Val)" "8"
"0000771478" "00001847" "90" "5935" "0" "5935" "0" "c.5935del" "r.(?)" "p.(Thr1979Glnfs*13)" "43"
"0000771479" "00001847" "90" "1761" "-2" "1761" "-2" "c.1761-2A>G" "r.spl" "p.?" "13"
"0000771480" "00001847" "90" "5935" "0" "5935" "0" "c.5935del" "r.(?)" "p.(Thr1979Glnfs*13)" "43"
"0000771481" "00001847" "50" "6317" "0" "6317" "0" "c.6317G>C" "r.(?)" "p.(Arg2106Pro)" "46"
"0000771482" "00001847" "70" "4217" "0" "4217" "0" "c.4217A>G" "r.(?)" "p.(His1406Arg)" "28"
"0000771483" "00001847" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408*)" "9"
"0000771484" "00001847" "70" "161" "0" "161" "0" "c.161G>A" "r.[161_302del,161g>a]" "p.[Cys54Serfs*14,Cys54Tyr]" "3"
"0000771485" "00001847" "70" "4217" "0" "4217" "0" "c.4217A>G" "r.(?)" "p.(His1406Arg)" "28"
"0000771486" "00001847" "70" "5318" "0" "5318" "0" "c.5318C>T" "r.(?)" "p.(Ala1773Val)" "38"
"0000771487" "00001847" "90" "5196" "1" "5196" "1" "c.5196+1G>A" "r.spl" "p.?" "36i"
"0000771488" "00001847" "70" "3266" "0" "3266" "0" "c.3266C>T" "r.(?)" "p.(Thr1089Ile)" "22"
"0000771489" "00001847" "90" "4322" "0" "4322" "0" "c.4322del" "r.(?)" "p.(Gly1441Alafs*5)" "29"
"0000771490" "00001847" "50" "5761" "0" "5761" "0" "c.5761G>A" "r.(?)" "p.(Val1921Met)" "41"
"0000771491" "00001847" "90" "3259" "0" "3259" "0" "c.3259G>A" "r.(?)" "p.(Glu1087Lys)" "22"
"0000771492" "00001847" "90" "3259" "0" "3259" "0" "c.3259G>A" "r.(?)" "p.(Glu1087Lys)" "22"
"0000771493" "00001847" "70" "5929" "0" "5929" "0" "c.5929G>A" "r.(?)" "p.(Gly1977Ser)" "43"
"0000771494" "00001847" "70" "6086" "0" "6086" "0" "c.6086G>T" "r.(?)" "p.(Gly2029Val)" "44"
"0000771495" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000771496" "00001847" "70" "6563" "0" "6563" "0" "c.6563T>C" "r.(?)" "p.(Phe2188Ser)" "48"
"0000771497" "00001847" "70" "187" "0" "187" "0" "c.187T>C" "r.(?)" "p.(Ser63Pro)" "3"
"0000771498" "00001847" "70" "6239" "0" "6239" "0" "c.6239C>T" "r.(?)" "p.(Ser2080Phe)" "45"
"0000771499" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000771500" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000771501" "00001847" "70" "5646" "0" "5646" "0" "c.5646G>A" "r.(?)" "p.(Met1882Ile)" "40"
"0000771502" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000771503" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000771504" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000771505" "00001847" "70" "184" "0" "184" "0" "c.184C>G" "r.(?)" "p.(Pro62Ala)" "3"
"0000771506" "00001847" "70" "4457" "0" "4457" "0" "c.4457C>T" "r.(?)" "p.(Pro1486Leu)" "30"
"0000771507" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000771508" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000771509" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000771510" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000771511" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000771512" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000771513" "00001847" "70" "2972" "0" "2972" "0" "c.2972G>T" "r.(?)" "p.(Gly991Val)" "20"
"0000771514" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000771515" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000771516" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000771517" "00001847" "70" "184" "0" "184" "0" "c.184C>G" "r.(?)" "p.(Pro62Ala)" "3"
"0000771518" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000771519" "00001847" "90" "2012" "0" "2013" "0" "c.2012_2013del" "r.(?)" "p.(Val671Glufs*94)" "14"
"0000771520" "00001847" "70" "1822" "0" "1822" "0" "c.1822T>A" "r.(?)" "p.(Phe608Ile)" "13"
"0000771521" "00001847" "70" "1822" "0" "1822" "0" "c.1822T>A" "r.(?)" "p.(Phe608Ile)" "13"
"0000771522" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.[(768g>u;768_769ins768+1_768+35)]" "p.(Leu257Valfs*17)" "6"
"0000771523" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000771524" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.[(768g>u;768_769ins768+1_768+35)]" "p.(Leu257Valfs*17)" "6"
"0000771525" "00001847" "90" "3289" "0" "3289" "0" "c.3289A>T" "r.(?)" "p.(Arg1097*)" "22"
"0000771526" "00001847" "70" "183" "0" "183" "0" "c.183G>C" "r.(?)" "p.(Met61Ile)" "3"
"0000771527" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000771528" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000771529" "00001847" "90" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071Cysfs*14)" "22"
"0000771530" "00001847" "90" "6386" "2" "6386" "2" "c.6386+2C>G" "r.(?)" "p.(?)" "46i"
"0000771531" "00001847" "70" "2609" "0" "2609" "0" "c.2609C>T" "r.(?)" "p.(Pro870Leu)" "17"
"0000771532" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000771533" "00001847" "90" "45" "0" "45" "0" "c.45G>A" "r.(?)" "p.(Trp15*)" "1"
"0000771534" "00001847" "90" "3259" "0" "3259" "0" "c.3259G>A" "r.(?)" "p.(Glu1087Lys)" "22"
"0000771535" "00001847" "90" "3261" "0" "3261" "0" "c.3261A>C" "r.(?)" "p.(Glu1087Asp)" "22"
"0000771536" "00001847" "90" "3259" "0" "3259" "0" "c.3259G>A" "r.(?)" "p.(Glu1087Lys)" "22"
"0000771537" "00001847" "70" "6449" "0" "6449" "0" "c.6449G>A" "r.(?)" "p.(Cys2150Tyr)" "47"
"0000771538" "00001847" "90" "4234" "0" "4234" "0" "c.4234C>T" "r.(?)" "p.(Gln1412*)" "28"
"0000771539" "00001847" "90" "4635" "0" "4635" "0" "c.4635del" "r.(?)" "p.(Leu1546*)" "32"
"0000771540" "00001847" "70" "3407" "0" "3407" "0" "c.3407G>A" "r.(?)" "p.(Gly1136Glu)" "23"
"0000771541" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000771542" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000771543" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000771544" "00001847" "70" "5560" "0" "5560" "0" "c.5560G>T" "r.(?)" "p.(Val1854Leu)" "39"
"0000771545" "00001847" "70" "746" "0" "746" "0" "c.746A>G" "r.(?)" "p.(Asp249Gly)" "6"
"0000771546" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000771547" "00001847" "70" "161" "0" "161" "0" "c.161G>A" "r.[161_302del,161g>a]" "p.[Cys54Serfs*14,Cys54Tyr]" "3"
"0000771548" "00001847" "90" "858" "2" "858" "2" "c.858+2T>A" "r.spl" "p.?" "7i"
"0000771549" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.[(768g>u;768_769ins768+1_768+35)]" "p.(Leu257Valfs*17)" "6"
"0000771550" "00001847" "70" "4462" "0" "4462" "0" "c.4462T>C" "r.(?)" "p.(Cys1488Arg)" "30"
"0000771551" "00001847" "90" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973*)" "43"
"0000771552" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000771553" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000771554" "00001847" "70" "214" "0" "214" "0" "c.214G>A" "r.(?)" "p.(Gly72Arg)" "3"
"0000771555" "00001847" "70" "3703" "0" "3703" "0" "c.3703A>G" "r.(?)" "p.(Asn1235Asp)" "25"
"0000771556" "00001847" "70" "5113" "0" "5113" "0" "c.5113C>T" "r.(?)" "p.(Arg1705Trp)" "36"
"0000771557" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000771558" "00001847" "90" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973*)" "43"
"0000771559" "00001847" "90" "2005" "0" "2006" "0" "c.2005_2006del" "r.(?)" "p.(Met669Aspfs*96)" "14"
"0000771560" "00001847" "50" "2401" "0" "2401" "0" "c.2401G>A" "r.(?)" "p.(Ala801Thr)" "16"
"0000771561" "00001847" "90" "5196" "1" "5196" "1" "c.5196+1G>A" "r.spl" "p.?" "36i"
"0000771562" "00001847" "90" "45" "0" "45" "0" "c.45G>A" "r.(?)" "p.(Trp15*)" "1"
"0000771563" "00001847" "90" "346" "0" "347" "0" "c.346_347del" "r.(?)" "p.(Ala116Thrfs*44)" "4"
"0000771564" "00001847" "90" "2933" "0" "2933" "0" "c.2933G>A" "r.(?)" "p.(Gly978Asp)" "20"
"0000771565" "00001847" "90" "45" "0" "45" "0" "c.45G>A" "r.(?)" "p.(Trp15*)" "1"
"0000771566" "00001847" "90" "3259" "0" "3259" "0" "c.3259G>A" "r.(?)" "p.(Glu1087Lys)" "22"
"0000771567" "00001847" "90" "1025" "0" "1038" "0" "c.1025_1038del" "r.(?)" "p.(Asp342Glyfs*6)" "8"
"0000771568" "00001847" "90" "5018" "2" "5018" "2" "c.5018+2T>C" "r.spl" "p.?" "35i"
"0000771569" "00001847" "70" "214" "0" "214" "0" "c.214G>A" "r.(?)" "p.(Gly72Arg)" "3"
"0000771570" "00001847" "70" "1807" "0" "1807" "0" "c.1807T>C" "r.(?)" "p.(Tyr603His)" "13"
"0000771571" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000771572" "00001847" "90" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973*)" "43"
"0000771573" "00001847" "50" "5413" "0" "5413" "0" "c.5413A>G" "r.(?)" "p.(Asn1805Asp)" "38"
"0000771574" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000771575" "00001847" "70" "3642" "0" "3644" "0" "c.3642_3644del" "r.(?)" "p.(His1215del)" "25"
"0000771576" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000771577" "00001847" "70" "6229" "0" "6229" "0" "c.6229C>T" "r.(?)" "p.(Arg2077Trp)" "45"
"0000771578" "00001847" "90" "1988" "0" "1988" "0" "c.1988G>A" "r.(?)" "p.(Trp663*)" "14"
"0000771579" "00001847" "70" "2300" "0" "2300" "0" "c.2300T>A" "r.(?)" "p.(Val767Asp)" "15"
"0000771580" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000771581" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000771582" "00001847" "90" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973*)" "43"
"0000771583" "00001847" "70" "3701" "0" "3701" "0" "c.3701C>T" "r.(?)" "p.(Pro1234Leu)" "25"
"0000771584" "00001847" "70" "2536" "0" "2536" "0" "c.2536G>C" "r.(?)" "p.(Asp846His)" "16"
"0000771585" "00001847" "90" "2041" "0" "2041" "0" "c.2041C>T" "r.(?)" "p.(Arg681*)" "14"
"0000771586" "00001847" "70" "618" "0" "618" "0" "c.618C>G" "r.(?)" "p.(Ser206Arg)" "6"
"0000771587" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000771588" "00001847" "90" "967" "0" "967" "0" "c.967del" "r.(?)" "p.(Leu323Cysfs*51)" "8"
"0000771589" "00001847" "90" "2966" "0" "2966" "0" "c.2966T>C" "r.(?)" "p.(Val989Ala)" "20"
"0000771590" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000771591" "00001847" "70" "1648" "0" "1648" "0" "c.1648G>A" "r.(?)" "p.(Gly550Arg)" "12"
"0000771592" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000771593" "00001847" "70" "2300" "0" "2300" "0" "c.2300T>A" "r.(?)" "p.(Val767Asp)" "15"
"0000771594" "00001847" "90" "4663" "0" "4664" "0" "c.4663_4664del" "r.(?)" "p.(Gln1555Glufs*41)" "32"
"0000771595" "00001847" "70" "2579" "0" "2579" "0" "c.2579T>C" "r.(?)" "p.(Val860Ala)" "16"
"0000771596" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000771597" "00001847" "90" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071Cysfs*14)" "22"
"0000771598" "00001847" "90" "108" "0" "108" "0" "c.108del" "r.(?)" "p.(Leu37Trpfs*3)" "2"
"0000771599" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000771600" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000771601" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000771602" "00001847" "90" "6386" "2" "6386" "2" "c.6386+2C>G" "r.(?)" "p.(?)" "46i"
"0000771603" "00001847" "70" "194" "0" "194" "0" "c.194G>A" "r.(?)" "p.(Gly65Glu)" "3"
"0000771604" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000771605" "00001847" "90" "4234" "0" "4234" "0" "c.4234C>T" "r.(?)" "p.(Gln1412*)" "28"
"0000771606" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000771607" "00001847" "70" "2875" "0" "2875" "0" "c.2875A>T" "r.(?)" "p.(Thr959Ser)" "19"
"0000771608" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000771609" "00001847" "70" "214" "0" "214" "0" "c.214G>A" "r.(?)" "p.(Gly72Arg)" "3"
"0000771610" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000771611" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000771612" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000771613" "00001847" "90" "5196" "1056" "5196" "1056" "c.5196+1056A>G" "r.5196_5197ins5196+880_5196+1056" "p.(Met1733Valfs*2)" "36i"
"0000771614" "00001847" "90" "4848" "2" "4848" "2" "c.4848+2T>C" "r.spl" "p.?" "34i"
"0000771615" "00001847" "90" "1937" "1" "1937" "1" "c.1937+1G>A" "r.spl" "p.?" "13i"
"0000771616" "00001847" "90" "4848" "1" "4848" "1" "c.4848+1G>T" "r.spl" "p.?" "34i"
"0000771617" "00001847" "70" "70" "0" "70" "0" "c.70C>T" "r.(?)" "p.[IIe23IIefs*30,=]" "2"
"0000771618" "00001847" "90" "4848" "2" "4848" "2" "c.4848+2T>A" "r.spl" "p.?" "34i"
"0000771619" "00001847" "90" "6419" "0" "6419" "0" "c.6419T>G" "r.(?)" "p.(Leu2140Gln)" "47"
"0000771620" "00001847" "50" "1964" "0" "1964" "0" "c.1964T>G" "r.(?)" "p.(Phe655Cys)" "14"
"0000771621" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000771622" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000771623" "00001847" "90" "6386" "2" "6386" "2" "c.6386+2C>G" "r.(?)" "p.(?)" "46i"
"0000771624" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000771625" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000771626" "00001847" "90" "571" "-1" "571" "-1" "c.571-1G>T" "r.spl" "p.?" "5i"
"0000771627" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000771628" "00001847" "90" "2005" "0" "2006" "0" "c.2005_2006del" "r.(?)" "p.(Met669Aspfs*96)" "14"
"0000771629" "00001847" "90" "2005" "0" "2006" "0" "c.2005_2006del" "r.(?)" "p.(Met669Aspfs*96)" "14"
"0000771630" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000771631" "00001847" "90" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973*)" "43"
"0000771632" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000771633" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000771634" "00001847" "70" "6454" "0" "6454" "0" "c.6454G>T" "r.(?)" "p.(Gly2152Cys)" "47"
"0000771635" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000771636" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000771637" "00001847" "50" "6721" "0" "6721" "0" "c.6721C>G" "r.(?)" "p.(Leu2241Val)" "48"
"0000771638" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000771639" "00001847" "70" "4919" "0" "4919" "0" "c.4919G>A" "r.(?)" "p.(Arg1640Gln)" "35"
"0000771640" "00001847" "50" "1964" "0" "1964" "0" "c.1964T>G" "r.(?)" "p.(Phe655Cys)" "14"
"0000771641" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000771642" "00001847" "70" "194" "0" "194" "0" "c.194G>A" "r.(?)" "p.(Gly65Glu)" "3"
"0000771643" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000771644" "00001847" "90" "2888" "0" "2888" "0" "c.2888del" "r.(?)" "p.(Gly963Alafs*14)" "19"
"0000771645" "00001847" "70" "183" "0" "183" "0" "c.183G>C" "r.(?)" "p.(Met61Ile)" "3"
"0000771646" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000771647" "00001847" "70" "1009" "0" "1009" "0" "c.1009T>C" "r.(?)" "p.(Phe337Leu)" "8"
"0000771648" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000771649" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000771650" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000771651" "00001847" "70" "2390" "0" "2390" "0" "c.2390T>C" "r.(?)" "p.(Leu797Pro)" "16"
"0000771652" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000771653" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000771654" "00001847" "70" "2184" "0" "2184" "0" "c.2184C>A" "r.(?)" "p.(Ser728Arg)" "15"
"0000771655" "00001847" "70" "1822" "0" "1822" "0" "c.1822T>A" "r.(?)" "p.(Phe608Ile)" "13"
"0000771656" "00001847" "70" "1822" "0" "1822" "0" "c.1822T>A" "r.(?)" "p.(Phe608Ile)" "13"
"0000771657" "00001847" "90" "4254" "-1" "4254" "-1" "c.4254-1G>C" "r.spl" "p.?" "28i"
"0000771658" "00001847" "70" "194" "0" "194" "0" "c.194G>A" "r.(?)" "p.(Gly65Glu)" "3"
"0000771659" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000771660" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000771661" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000771662" "00001847" "90" "4352" "1" "4352" "1" "c.4352+1G>A" "r.spl" "p.?" "29i"
"0000771663" "00001847" "90" "1239" "1" "1239" "1" "c.1239+1G>C" "r.spl" "p.?" "9i"
"0000771664" "00001847" "90" "1454" "0" "1454" "0" "c.1454del" "r.(?)" "p.(Gly485Alafs*83)" "11"
"0000771665" "00001847" "70" "3398" "0" "3398" "0" "c.3398T>C" "r.(?)" "p.(Ile1133Thr)" "23"
"0000771666" "00001847" "90" "5715" "-1" "5715" "-1" "c.5715-1G>T" "r.(?)" "p.(?)" "40i"
"0000771667" "00001847" "70" "6112" "0" "6112" "0" "c.6112C>T" "r.(?)" "p.(Arg2038Trp)" "44"
"0000771668" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000771669" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000771670" "00001847" "70" "6647" "0" "6647" "0" "c.6647C>T" "r.(?)" "p.(Ala2216Val)" "48"
"0000771671" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000771672" "00001847" "70" "6229" "0" "6229" "0" "c.6229C>T" "r.(?)" "p.(Arg2077Trp)" "45"
"0000771673" "00001847" "90" "108" "0" "108" "0" "c.108del" "r.(?)" "p.(Leu37Trpfs*3)" "2"
"0000771674" "00001847" "90" "108" "0" "108" "0" "c.108del" "r.(?)" "p.(Leu37Trpfs*3)" "2"
"0000771675" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000771676" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000771677" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000771678" "00001847" "70" "1807" "0" "1807" "0" "c.1807T>C" "r.(?)" "p.(Tyr603His)" "13"
"0000771679" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000771680" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000771681" "00001847" "90" "967" "0" "967" "0" "c.967del" "r.(?)" "p.(Leu323Cysfs*51)" "8"
"0000771682" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000771683" "00001847" "50" "1928" "0" "1928" "0" "c.1928T>G" "r.(?)" "p.(Val643Gly)" "13"
"0000771684" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000771685" "00001847" "90" "1988" "0" "1988" "0" "c.1988G>A" "r.(?)" "p.(Trp663*)" "14"
"0000771686" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000771687" "00001847" "90" "5018" "2" "5018" "2" "c.5018+2T>C" "r.spl" "p.?" "35i"
"0000771688" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000771689" "00001847" "90" "2041" "0" "2041" "0" "c.2041C>T" "r.(?)" "p.(Arg681*)" "14"
"0000771690" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000771691" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000771692" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000771693" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000771694" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000771695" "00001847" "90" "1293" "0" "1293" "0" "c.1293G>A" "r.(?)" "p.(Trp431*)" "10"
"0000771696" "00001847" "90" "2041" "0" "2041" "0" "c.2041C>T" "r.(?)" "p.(Arg681*)" "14"
"0000771697" "00001847" "70" "1822" "0" "1822" "0" "c.1822T>A" "r.(?)" "p.(Phe608Ile)" "13"
"0000771698" "00001847" "90" "3261" "0" "3261" "0" "c.3261A>C" "r.(?)" "p.(Glu1087Asp)" "22"
"0000771699" "00001847" "90" "3261" "0" "3261" "0" "c.3261A>C" "r.(?)" "p.(Glu1087Asp)" "22"
"0000771700" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000771701" "00001847" "50" "5413" "0" "5413" "0" "c.5413A>G" "r.(?)" "p.(Asn1805Asp)" "38"
"0000771702" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000771703" "00001847" "90" "5018" "2" "5018" "2" "c.5018+2T>A" "r.spl" "p.?" "35i"
"0000771704" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000771705" "00001847" "90" "4234" "0" "4234" "0" "c.4234C>T" "r.(?)" "p.(Gln1412*)" "28"
"0000771706" "00001847" "70" "4249" "0" "4251" "0" "c.4249_4251del" "r.(?)" "p.(Phe1417del)" "28"
"0000771707" "00001847" "90" "571" "0" "580" "0" "c.571_580dup" "r.(?)" "p.(Gly194Valfs*89)" "6"
"0000771708" "00001847" "90" "4848" "2" "4848" "2" "c.4848+2T>C" "r.spl" "p.?" "34i"
"0000771709" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000771710" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000771711" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000771712" "00001847" "90" "3056" "0" "3056" "0" "c.3056C>T" "r.(?)" "p.(Thr1019Met)" "21"
"0000771713" "00001847" "90" "4234" "0" "4234" "0" "c.4234C>T" "r.(?)" "p.(Gln1412*)" "28"
"0000771714" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000771715" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000771716" "00001847" "90" "45" "0" "45" "0" "c.45G>A" "r.(?)" "p.(Trp15*)" "1"
"0000771717" "00001847" "70" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" "44"
"0000771718" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000771719" "00001847" "90" "1819" "0" "1819" "0" "c.1819G>A" "r.(?)" "p.(Gly607Arg)" "13"
"0000771720" "00001847" "50" "6119" "0" "6119" "0" "c.6119G>A" "r.(?)" "p.(Arg2040Gln)" "44"
"0000771721" "00001847" "70" "5113" "0" "5113" "0" "c.5113C>T" "r.(?)" "p.(Arg1705Trp)" "36"
"0000771722" "00001847" "90" "6196" "0" "6196" "0" "c.6196del" "r.(?)" "p.(Cys2066Alafs*49)" "45"
"0000771723" "00001847" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408*)" "9"
"0000771724" "00001847" "70" "6112" "0" "6112" "0" "c.6112C>T" "r.(?)" "p.(Arg2038Trp)" "44"
"0000771725" "00001847" "90" "6196" "0" "6196" "0" "c.6196del" "r.(?)" "p.(Cys2066Alafs*49)" "45"
"0000771726" "00001847" "90" "5935" "0" "5935" "0" "c.5935del" "r.(?)" "p.(Thr1979Glnfs*13)" "43"
"0000771727" "00001847" "50" "164" "0" "164" "0" "c.164A>G" "r.(?)" "p.(His55Arg)" "3"
"0000771728" "00001847" "70" "3364" "0" "3364" "0" "c.3364G>A" "r.(?)" "p.(Glu1122Lys)" "23"
"0000771729" "00001847" "50" "101" "0" "106" "0" "c.101_106del" "r.(?)" "p.(Ser34_Leu35del)" "2"
"0000771730" "00001847" "90" "1017" "0" "1017" "0" "c.1017G>A" "r.(?)" "p.(Trp339*)" "8"
"0000771731" "00001847" "90" "4254" "-1" "4254" "-1" "c.4254-1G>T" "r.spl" "p.?" "28i"
"0000771732" "00001847" "70" "5327" "0" "5327" "0" "c.5327C>T" "r.(?)" "p.(Pro1776Leu)" "38"
"0000771733" "00001847" "90" "4853" "0" "4853" "0" "c.4853G>A" "r.(?)" "p.(Trp1618*)" "35"
"0000771734" "00001847" "70" "3604" "0" "3604" "0" "c.3604G>A" "r.(?)" "p.(Asp1202Asn)" "24"
"0000771735" "00001847" "90" "6196" "0" "6196" "0" "c.6196del" "r.(?)" "p.(Cys2066Alafs*49)" "45"
"0000771736" "00001847" "70" "6194" "0" "6194" "0" "c.6194A>T" "r.(?)" "p.(Asp2065Val)" "45"
"0000771737" "00001847" "50" "1699" "0" "1699" "0" "c.1699G>A" "r.(?)" "p.(Val567Met)" "12"
"0000771738" "00001847" "70" "1099" "5" "1099" "5" "c.1099+5G>A" "r.(spl)" "p.?" "8i"
"0000771739" "00001847" "90" "716" "0" "716" "0" "c.716G>A" "r.(?)" "p.(Trp239*)" "6"
"0000771740" "00001847" "50" "3777" "0" "3777" "0" "c.3777C>G" "r.(?)" "p.(Leu1259=)" "25"
"0000771741" "00001847" "90" "2177" "0" "2177" "0" "c.2177del" "r.(?)" "p.(His726Leufs*61)" "15"
"0000771742" "00001847" "70" "1372" "0" "1372" "0" "c.1372C>T" "r.(?)" "p.(Pro458Ser)" "11"
"0000771743" "00001847" "90" "6316" "0" "6316" "0" "c.6316C>T" "r.(?)" "p.(Arg2106Cys)" "46"
"0000771744" "00001847" "70" "6305" "0" "6305" "0" "c.6305A>C" "r.(?)" "p.(Asp2102Ala)" "46"
"0000771745" "00001847" "90" "1760" "2" "1760" "2" "c.1760+2T>G" "r.spl" "p.?" "12i"
"0000771746" "00001847" "50" "1294" "0" "1294" "0" "c.1294G>A" "r.(?)" "p.(Glu432Lys)" "10"
"0000771747" "00001847" "50" "317" "0" "317" "0" "c.317A>T" "r.(?)" "p.(Tyr106Phe)" "4"
"0000771748" "00001847" "90" "1760" "2" "1760" "2" "c.1760+2T>G" "r.spl" "p.?" "12i"
"0000771749" "00001847" "70" "6772" "0" "6772" "0" "c.6772C>T" "r.(?)" "p.(Leu2258Phe)" "49"
"0000771750" "00001847" "90" "6609" "0" "6609" "0" "c.6609C>A" "r.(?)" "p.(Tyr2203*)" "48"
"0000771751" "00001847" "90" "6445" "0" "6445" "0" "c.6445C>T" "r.(?)" "p.(Arg2149*)" "47"
"0000771752" "00001847" "50" "6340" "0" "6340" "0" "c.6340G>A" "r.(?)" "p.(Val2114Met)" "46"
"0000771753" "00001847" "70" "6305" "0" "6305" "0" "c.6305A>C" "r.(?)" "p.(Asp2102Ala)" "46"
"0000771754" "00001847" "70" "6257" "0" "6257" "0" "c.6257T>G" "r.(?)" "p.(Ile2086Ser)" "45"
"0000771755" "00001847" "70" "5929" "0" "5929" "0" "c.5929G>A" "r.(?)" "p.(Gly1977Ser)" "43"
"0000771756" "00001847" "50" "5653" "0" "5653" "0" "c.5653G>A" "r.(?)" "p.(Glu1885Lys)" "40"
"0000771757" "00001847" "70" "5611" "0" "5611" "0" "c.5611C>T" "r.(?)" "p.(His1871Tyr)" "40"
"0000771758" "00001847" "70" "5575" "0" "5575" "0" "c.5575G>A" "r.(?)" "p.(Ala1859Thr)" "39"
"0000771759" "00001847" "50" "4773" "4" "4773" "4" "c.4773+4T>G" "r.(?)" "p.(?)" "33i"
"0000771760" "00001847" "50" "4771" "0" "4771" "0" "c.4771G>A" "r.(?)" "p.(Gly1591Arg)" "33"
"0000771761" "00001847" "70" "4700" "0" "4700" "0" "c.4700C>T" "r.(?)" "p.(Pro1567Leu)" "33"
"0000771762" "00001847" "70" "4462" "0" "4462" "0" "c.4462T>C" "r.(?)" "p.(Cys1488Arg)" "30"
"0000771763" "00001847" "50" "4328" "0" "4328" "0" "c.4328G>A" "r.(?)" "p.(Arg1443His)" "29"
"0000771764" "00001847" "50" "4195" "0" "4195" "0" "c.4195G>A" "r.(?)" "p.(Glu1399Lys)" "28"
"0000771765" "00001847" "70" "4079" "0" "4079" "0" "c.4079T>C" "r.(?)" "p.(Val1360Ala)" "27"
"0000771766" "00001847" "70" "3727" "0" "3727" "0" "c.3727T>G" "r.(?)" "p.(Tyr1243Asp)" "25"
"0000771767" "00001847" "70" "3287" "0" "3287" "0" "c.3287C>T" "r.(?)" "p.(Ser1096Leu)" "22"
"0000771768" "00001847" "70" "3164" "0" "3164" "0" "c.3164G>A" "r.(?)" "p.(Arg1055Gln)" "21"
"0000771769" "00001847" "50" "3119" "0" "3119" "0" "c.3119T>C" "r.(?)" "p.(Leu1040Pro)" "21"
"0000771770" "00001847" "70" "3117" "0" "3117" "0" "c.3117G>C" "r.(?)" "p.(Gln1039His)" "21"
"0000771771" "00001847" "70" "2924" "0" "2924" "0" "c.2924T>C" "r.(?)" "p.(Ile975Thr)" "20"
"0000771772" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000771773" "00001847" "70" "2857" "0" "2877" "0" "c.2857_2877del" "r.(?)" "p.(Phe953_Thr959del)" "19"
"0000771774" "00001847" "70" "2791" "0" "2791" "0" "c.2791G>T" "r.(?)" "p.(Val931Leu)" "19"
"0000771775" "00001847" "70" "2464" "0" "2464" "0" "c.2464A>G" "r.(?)" "p.(Ser822Gly)" "16"
"0000771776" "00001847" "70" "1969" "0" "1969" "0" "c.1969A>G" "r.(?)" "p.(Ile657Val)" "14"
"0000771777" "00001847" "70" "1862" "0" "1862" "0" "c.1862G>C" "r.(?)" "p.(Arg621Thr)" "13"
"0000771778" "00001847" "70" "1811" "0" "1811" "0" "c.1811T>G" "r.(?)" "p.(Ile604Ser)" "13"
"0000771779" "00001847" "70" "1615" "0" "1615" "0" "c.1615C>G" "r.(?)" "p.(Leu539Val)" "12"
"0000771780" "00001847" "50" "1532" "0" "1532" "0" "c.1532G>A" "r.(?)" "p.(Arg511His)" "11"
"0000771781" "00001847" "70" "1531" "0" "1531" "0" "c.1531C>T" "r.(?)" "p.(Arg511Cys)" "11"
"0000771782" "00001847" "70" "1351" "0" "1351" "0" "c.1351A>C" "r.(?)" "p.(Ile451Leu)" "10"
"0000771783" "00001847" "70" "791" "0" "791" "0" "c.791G>A" "r.(?)" "p.(Arg264His)" "7"
"0000771784" "00001847" "70" "790" "0" "790" "0" "c.790C>T" "r.(?)" "p.(Arg264Cys)" "7"
"0000771785" "00001847" "50" "764" "0" "764" "0" "c.764G>A" "r.(?)" "p.(Arg255His)" "6"
"0000771786" "00001847" "50" "763" "0" "763" "0" "c.763C>T" "r.(?)" "p.(Arg255Cys)" "6"
"0000771787" "00001847" "70" "676" "0" "676" "0" "c.676C>T" "r.(?)" "p.(Arg226Cys)" "6"
"0000771788" "00001847" "90" "570" "2" "570" "2" "c.570+2T>G" "r.spl" "p.?" "5i"
"0000771789" "00001847" "50" "443" "-5" "443" "-2" "c.443-5_443-2del" "r.(?)" "p.(?)" "4i"
"0000771790" "00001847" "70" "341" "0" "341" "0" "c.341T>C" "r.(?)" "p.(Met114Thr)" "4"
"0000771791" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000771792" "00001847" "70" "4880" "0" "4880" "0" "c.4880T>C" "r.(?)" "p.(Leu1627Pro)" "35"
"0000771793" "00001847" "50" "4519" "0" "4519" "0" "c.4519G>A" "r.(?)" "p.(Gly1507Arg)" "30"
"0000771794" "00001847" "50" "4426" "0" "4426" "0" "c.4426A>G" "r.(?)" "p.(Lys1476Glu)" "30"
"0000771795" "00001847" "50" "3625" "0" "3625" "0" "c.3625A>C" "r.(?)" "p.(Met1209Leu)" "25"
"0000771796" "00001847" "10" "2828" "0" "2828" "0" "c.2828G>A" "r.(?)" "p.(Arg943Gln)" "19"
"0000771797" "00001847" "50" "2759" "0" "2759" "0" "c.2759G>A" "r.(?)" "p.(Arg920His)" "19"
"0000771798" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000771799" "00001847" "70" "4880" "0" "4880" "0" "c.4880T>C" "r.(?)" "p.(Leu1627Pro)" "35"
"0000771800" "00001847" "50" "4519" "0" "4519" "0" "c.4519G>A" "r.(?)" "p.(Gly1507Arg)" "30"
"0000771801" "00001847" "50" "4426" "0" "4426" "0" "c.4426A>G" "r.(?)" "p.(Lys1476Glu)" "30"
"0000771802" "00001847" "50" "3625" "0" "3625" "0" "c.3625A>C" "r.(?)" "p.(Met1209Leu)" "25"
"0000771803" "00001847" "10" "2828" "0" "2828" "0" "c.2828G>A" "r.(?)" "p.(Arg943Gln)" "19"
"0000771804" "00001847" "50" "2759" "0" "2759" "0" "c.2759G>A" "r.(?)" "p.(Arg920His)" "19"
"0000771805" "00001847" "50" "4297" "0" "4297" "0" "c.4297G>A" "r.(?)" "p.(Val1433Ile)" "29"
"0000771806" "00001847" "70" "673" "0" "673" "0" "c.673G>A" "r.(?)" "p.(Val225Met)" "6"
"0000771807" "00001847" "70" "575" "0" "575" "0" "c.575C>T" "r.(?)" "p.(Ala192Val)" "6"
"0000771808" "00001847" "50" "4297" "0" "4297" "0" "c.4297G>A" "r.(?)" "p.(Val1433Ile)" "29"
"0000771809" "00001847" "70" "673" "0" "673" "0" "c.673G>A" "r.(?)" "p.(Val225Met)" "6"
"0000771810" "00001847" "70" "575" "0" "575" "0" "c.575C>T" "r.(?)" "p.(Ala192Val)" "6"
"0000771811" "00001847" "50" "4297" "0" "4297" "0" "c.4297G>A" "r.(?)" "p.(Val1433Ile)" "29"
"0000771812" "00001847" "70" "673" "0" "673" "0" "c.673G>A" "r.(?)" "p.(Val225Met)" "6"
"0000771813" "00001847" "70" "575" "0" "575" "0" "c.575C>T" "r.(?)" "p.(Ala192Val)" "6"
"0000771814" "00001847" "50" "571" "-5" "571" "-5" "c.571-5T>G" "r.(?)" "p.(?)" "5i"
"0000771815" "00001847" "50" "571" "-5" "571" "-5" "c.571-5T>G" "r.(?)" "p.(?)" "5i"
"0000771816" "00001847" "50" "571" "-5" "571" "-5" "c.571-5T>G" "r.(?)" "p.(?)" "5i"
"0000771817" "00001847" "50" "571" "-5" "571" "-5" "c.571-5T>G" "r.(?)" "p.(?)" "5i"
"0000771818" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000771819" "00001847" "50" "4715" "0" "4715" "0" "c.4715C>T" "r.(?)" "p.(Thr1572Met)" "33"
"0000771820" "00001847" "50" "317" "0" "317" "0" "c.317A>T" "r.(?)" "p.(Tyr106Phe)" "4"
"0000771821" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000771822" "00001847" "50" "4715" "0" "4715" "0" "c.4715C>T" "r.(?)" "p.(Thr1572Met)" "33"
"0000771823" "00001847" "50" "317" "0" "317" "0" "c.317A>T" "r.(?)" "p.(Tyr106Phe)" "4"
"0000771824" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000771825" "00001847" "50" "4715" "0" "4715" "0" "c.4715C>T" "r.(?)" "p.(Thr1572Met)" "33"
"0000771826" "00001847" "50" "317" "0" "317" "0" "c.317A>T" "r.(?)" "p.(Tyr106Phe)" "4"
"0000771827" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000771828" "00001847" "50" "4715" "0" "4715" "0" "c.4715C>T" "r.(?)" "p.(Thr1572Met)" "33"
"0000771829" "00001847" "50" "317" "0" "317" "0" "c.317A>T" "r.(?)" "p.(Tyr106Phe)" "4"
"0000771830" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000771831" "00001847" "50" "4715" "0" "4715" "0" "c.4715C>T" "r.(?)" "p.(Thr1572Met)" "33"
"0000771832" "00001847" "50" "317" "0" "317" "0" "c.317A>T" "r.(?)" "p.(Tyr106Phe)" "4"
"0000771833" "00001847" "50" "6119" "0" "6119" "0" "c.6119G>A" "r.(?)" "p.(Arg2040Gln)" "44"
"0000771834" "00001847" "50" "6119" "0" "6119" "0" "c.6119G>A" "r.(?)" "p.(Arg2040Gln)" "44"
"0000771835" "00001847" "50" "6119" "0" "6119" "0" "c.6119G>A" "r.(?)" "p.(Arg2040Gln)" "44"
"0000771836" "00001847" "50" "6119" "0" "6119" "0" "c.6119G>A" "r.(?)" "p.(Arg2040Gln)" "44"
"0000771837" "00001847" "50" "6119" "0" "6119" "0" "c.6119G>A" "r.(?)" "p.(Arg2040Gln)" "44"
"0000771838" "00001847" "50" "6119" "0" "6119" "0" "c.6119G>A" "r.(?)" "p.(Arg2040Gln)" "44"
"0000771839" "00001847" "50" "6119" "0" "6119" "0" "c.6119G>A" "r.(?)" "p.(Arg2040Gln)" "44"
"0000771840" "00001847" "50" "6119" "0" "6119" "0" "c.6119G>A" "r.(?)" "p.(Arg2040Gln)" "44"
"0000771841" "00001847" "50" "6119" "0" "6119" "0" "c.6119G>A" "r.(?)" "p.(Arg2040Gln)" "44"
"0000771842" "00001847" "70" "5593" "0" "5593" "0" "c.5593C>T" "r.(?)" "p.(His1865Tyr)" "40"
"0000771843" "00001847" "70" "5593" "0" "5593" "0" "c.5593C>T" "r.(?)" "p.(His1865Tyr)" "40"
"0000771844" "00001847" "70" "5593" "0" "5593" "0" "c.5593C>T" "r.(?)" "p.(His1865Tyr)" "40"
"0000771845" "00001847" "70" "5593" "0" "5593" "0" "c.5593C>T" "r.(?)" "p.(His1865Tyr)" "40"
"0000771846" "00001847" "70" "5593" "0" "5593" "0" "c.5593C>T" "r.(?)" "p.(His1865Tyr)" "40"
"0000771847" "00001847" "70" "5593" "0" "5593" "0" "c.5593C>T" "r.(?)" "p.(His1865Tyr)" "40"
"0000771848" "00001847" "70" "5593" "0" "5593" "0" "c.5593C>T" "r.(?)" "p.(His1865Tyr)" "40"
"0000771849" "00001847" "70" "5593" "0" "5593" "0" "c.5593C>T" "r.(?)" "p.(His1865Tyr)" "40"
"0000771850" "00001847" "70" "5593" "0" "5593" "0" "c.5593C>T" "r.(?)" "p.(His1865Tyr)" "40"
"0000771851" "00001847" "70" "5593" "0" "5593" "0" "c.5593C>T" "r.(?)" "p.(His1865Tyr)" "40"
"0000771852" "00001847" "70" "5593" "0" "5593" "0" "c.5593C>T" "r.(?)" "p.(His1865Tyr)" "40"
"0000771853" "00001847" "70" "5593" "0" "5593" "0" "c.5593C>T" "r.(?)" "p.(His1865Tyr)" "40"
"0000771854" "00001847" "50" "1294" "0" "1294" "0" "c.1294G>A" "r.(?)" "p.(Glu432Lys)" "10"
"0000771855" "00001847" "50" "1294" "0" "1294" "0" "c.1294G>A" "r.(?)" "p.(Glu432Lys)" "10"
"0000771856" "00001847" "50" "1294" "0" "1294" "0" "c.1294G>A" "r.(?)" "p.(Glu432Lys)" "10"
"0000771857" "00001847" "50" "1294" "0" "1294" "0" "c.1294G>A" "r.(?)" "p.(Glu432Lys)" "10"
"0000771858" "00001847" "50" "1294" "0" "1294" "0" "c.1294G>A" "r.(?)" "p.(Glu432Lys)" "10"
"0000771859" "00001847" "50" "1294" "0" "1294" "0" "c.1294G>A" "r.(?)" "p.(Glu432Lys)" "10"
"0000771860" "00001847" "50" "1294" "0" "1294" "0" "c.1294G>A" "r.(?)" "p.(Glu432Lys)" "10"
"0000771861" "00001847" "50" "1294" "0" "1294" "0" "c.1294G>A" "r.(?)" "p.(Glu432Lys)" "10"
"0000771862" "00001847" "50" "1294" "0" "1294" "0" "c.1294G>A" "r.(?)" "p.(Glu432Lys)" "10"
"0000771863" "00001847" "50" "1294" "0" "1294" "0" "c.1294G>A" "r.(?)" "p.(Glu432Lys)" "10"
"0000771864" "00001847" "50" "1294" "0" "1294" "0" "c.1294G>A" "r.(?)" "p.(Glu432Lys)" "10"
"0000771865" "00001847" "50" "1294" "0" "1294" "0" "c.1294G>A" "r.(?)" "p.(Glu432Lys)" "10"
"0000771866" "00001847" "50" "1294" "0" "1294" "0" "c.1294G>A" "r.(?)" "p.(Glu432Lys)" "10"
"0000771867" "00001847" "50" "1294" "0" "1294" "0" "c.1294G>A" "r.(?)" "p.(Glu432Lys)" "10"
"0000771868" "00001847" "50" "1294" "0" "1294" "0" "c.1294G>A" "r.(?)" "p.(Glu432Lys)" "10"
"0000771869" "00001847" "50" "1294" "0" "1294" "0" "c.1294G>A" "r.(?)" "p.(Glu432Lys)" "10"
"0000771870" "00001847" "50" "1294" "0" "1294" "0" "c.1294G>A" "r.(?)" "p.(Glu432Lys)" "10"
"0000771871" "00001847" "50" "1294" "0" "1294" "0" "c.1294G>A" "r.(?)" "p.(Glu432Lys)" "10"
"0000771872" "00001847" "50" "1294" "0" "1294" "0" "c.1294G>A" "r.(?)" "p.(Glu432Lys)" "10"
"0000771873" "00001847" "50" "1294" "0" "1294" "0" "c.1294G>A" "r.(?)" "p.(Glu432Lys)" "10"
"0000771874" "00001847" "50" "1294" "0" "1294" "0" "c.1294G>A" "r.(?)" "p.(Glu432Lys)" "10"
"0000771875" "00001847" "50" "1699" "0" "1699" "0" "c.1699G>A" "r.(?)" "p.(Val567Met)" "12"
"0000771876" "00001847" "50" "1699" "0" "1699" "0" "c.1699G>A" "r.(?)" "p.(Val567Met)" "12"
"0000771877" "00001847" "50" "1699" "0" "1699" "0" "c.1699G>A" "r.(?)" "p.(Val567Met)" "12"
"0000771878" "00001847" "50" "1699" "0" "1699" "0" "c.1699G>A" "r.(?)" "p.(Val567Met)" "12"
"0000771879" "00001847" "50" "1699" "0" "1699" "0" "c.1699G>A" "r.(?)" "p.(Val567Met)" "12"
"0000771880" "00001847" "50" "1699" "0" "1699" "0" "c.1699G>A" "r.(?)" "p.(Val567Met)" "12"
"0000771881" "00001847" "50" "1699" "0" "1699" "0" "c.1699G>A" "r.(?)" "p.(Val567Met)" "12"
"0000771882" "00001847" "50" "1699" "0" "1699" "0" "c.1699G>A" "r.(?)" "p.(Val567Met)" "12"
"0000771883" "00001847" "50" "1699" "0" "1699" "0" "c.1699G>A" "r.(?)" "p.(Val567Met)" "12"
"0000771884" "00001847" "50" "1699" "0" "1699" "0" "c.1699G>A" "r.(?)" "p.(Val567Met)" "12"
"0000771885" "00001847" "50" "1699" "0" "1699" "0" "c.1699G>A" "r.(?)" "p.(Val567Met)" "12"
"0000771886" "00001847" "50" "1699" "0" "1699" "0" "c.1699G>A" "r.(?)" "p.(Val567Met)" "12"
"0000771887" "00001847" "50" "1699" "0" "1699" "0" "c.1699G>A" "r.(?)" "p.(Val567Met)" "12"
"0000771888" "00001847" "50" "1699" "0" "1699" "0" "c.1699G>A" "r.(?)" "p.(Val567Met)" "12"
"0000771889" "00001847" "50" "1699" "0" "1699" "0" "c.1699G>A" "r.(?)" "p.(Val567Met)" "12"
"0000771890" "00001847" "50" "1699" "0" "1699" "0" "c.1699G>A" "r.(?)" "p.(Val567Met)" "12"
"0000771891" "00001847" "50" "1699" "0" "1699" "0" "c.1699G>A" "r.(?)" "p.(Val567Met)" "12"
"0000771892" "00001847" "50" "1699" "0" "1699" "0" "c.1699G>A" "r.(?)" "p.(Val567Met)" "12"
"0000771893" "00001847" "50" "1699" "0" "1699" "0" "c.1699G>A" "r.(?)" "p.(Val567Met)" "12"
"0000771894" "00001847" "50" "1699" "0" "1699" "0" "c.1699G>A" "r.(?)" "p.(Val567Met)" "12"
"0000771895" "00001847" "50" "1699" "0" "1699" "0" "c.1699G>A" "r.(?)" "p.(Val567Met)" "12"
"0000771896" "00001847" "50" "1699" "0" "1699" "0" "c.1699G>A" "r.(?)" "p.(Val567Met)" "12"
"0000771897" "00001847" "50" "1699" "0" "1699" "0" "c.1699G>A" "r.(?)" "p.(Val567Met)" "12"
"0000771898" "00001847" "50" "1699" "0" "1699" "0" "c.1699G>A" "r.(?)" "p.(Val567Met)" "12"
"0000771899" "00001847" "50" "1699" "0" "1699" "0" "c.1699G>A" "r.(?)" "p.(Val567Met)" "12"
"0000771900" "00001847" "50" "1699" "0" "1699" "0" "c.1699G>A" "r.(?)" "p.(Val567Met)" "12"
"0000771901" "00001847" "50" "1699" "0" "1699" "0" "c.1699G>A" "r.(?)" "p.(Val567Met)" "12"
"0000771902" "00001847" "50" "1699" "0" "1699" "0" "c.1699G>A" "r.(?)" "p.(Val567Met)" "12"
"0000771903" "00001847" "50" "1699" "0" "1699" "0" "c.1699G>A" "r.(?)" "p.(Val567Met)" "12"
"0000771904" "00001847" "50" "1699" "0" "1699" "0" "c.1699G>A" "r.(?)" "p.(Val567Met)" "12"
"0000771905" "00001847" "50" "1699" "0" "1699" "0" "c.1699G>A" "r.(?)" "p.(Val567Met)" "12"
"0000771906" "00001847" "50" "1699" "0" "1699" "0" "c.1699G>A" "r.(?)" "p.(Val567Met)" "12"
"0000771907" "00001847" "50" "1699" "0" "1699" "0" "c.1699G>A" "r.(?)" "p.(Val567Met)" "12"
"0000771908" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000771909" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000771910" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000771911" "00001847" "90" "2692" "0" "2692" "0" "c.2692G>T" "r.(?)" "p.(Glu898*)" "18"
"0000771912" "00001847" "70" "4610" "0" "4610" "0" "c.4610C>T" "r.(?)" "p.(Thr1537Met)" "31"
"0000771913" "00001847" "70" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" "31"
"0000771914" "00001847" "90" "1819" "0" "1819" "0" "c.1819G>A" "r.(?)" "p.(Gly607Arg)" "13"
"0000771915" "00001847" "90" "1819" "0" "1819" "0" "c.1819G>A" "r.(?)" "p.(Gly607Arg)" "13"
"0000771916" "00001847" "90" "1819" "0" "1819" "0" "c.1819G>A" "r.(?)" "p.(Gly607Arg)" "13"
"0000771917" "00001847" "90" "1819" "0" "1819" "0" "c.1819G>A" "r.(?)" "p.(Gly607Arg)" "13"
"0000771918" "00001847" "70" "3260" "0" "3260" "0" "c.3260A>G" "r.(?)" "p.(Glu1087Gly)" "22"
"0000771919" "00001847" "70" "3260" "0" "3260" "0" "c.3260A>G" "r.(?)" "p.(Glu1087Gly)" "22"
"0000771920" "00001847" "70" "3287" "0" "3287" "0" "c.3287C>T" "r.(?)" "p.(Ser1096Leu)" "22"
"0000771921" "00001847" "70" "3262" "0" "3262" "0" "c.3262C>A" "r.(?)" "p.(Pro1088Thr)" "22"
"0000771922" "00001847" "90" "4066" "0" "4066" "0" "c.4066C>T" "r.(?)" "p.(Gln1356*)" "27"
"0000771923" "00001847" "70" "5584" "5" "5584" "5" "c.5584+5G>A" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "39i"
"0000771924" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000771925" "00001847" "50" "2034" "0" "2034" "0" "c.2034G>T" "r.(?)" "p.(Lys678Asn)" "14"
"0000771926" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000771927" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000771928" "00001847" "90" "1760" "0" "1760" "0" "c.1760G>A" "r.(?)" "p.(Arg587Lys,?)" "12"
"0000771929" "00001847" "70" "1892" "0" "1892" "0" "c.1892G>T" "r.(?)" "p.(Gly631Val)" "13"
"0000771930" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000771931" "00001847" "70" "5167" "0" "5167" "0" "c.5167T>C" "r.(?)" "p.(Tyr1723His)" "36"
"0000771932" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000771933" "00001847" "70" "3065" "0" "3065" "0" "c.3065A>G" "r.(?)" "p.(Glu1022Gly)" "21"
"0000771934" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000771935" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000771936" "00001847" "70" "6317" "0" "6317" "0" "c.6317G>A" "r.(?)" "p.(Arg2106His)" "46"
"0000771937" "00001847" "50" "4739" "0" "4739" "0" "c.4739T>C" "r.(?)" "p.(Leu1580Ser)" "33"
"0000771938" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000771939" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000771940" "00001847" "70" "6729" "5" "6729" "19" "c.6729+5_6729+19del" "r.6480_6729del" "p.(Phe2161Cysfs*3)" "48i"
"0000771941" "00001847" "70" "2522" "0" "2522" "0" "c.2522A>C" "r.(?)" "p.(Gln841Pro)" "16"
"0000771942" "00001847" "90" "5196" "1" "5196" "1" "c.5196+1G>T" "r.spl" "p.?" "36i"
"0000771943" "00001847" "70" "859" "-9" "859" "-9" "c.859-9T>C" "r.[=,859_1356del]" "p.[=,Phe287_Arg452del]" "7i"
"0000771944" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000771945" "00001847" "90" "4637" "0" "4637" "0" "c.4637T>G" "r.(?)" "p.(Leu1546*)" "32"
"0000771946" "00001847" "90" "2521" "0" "2521" "0" "c.2521C>T" "r.(?)" "p.(Gln841*)" "16"
"0000771947" "00001847" "90" "2521" "0" "2521" "0" "c.2521C>T" "r.(?)" "p.(Gln841*)" "16"
"0000771948" "00001847" "90" "571" "-1" "571" "-1" "c.571-1G>T" "r.spl" "p.?" "5i"
"0000771949" "00001847" "90" "5196" "1216" "5196" "1216" "c.5196+1216C>A" "r.[=,5196_5197ins5196+1140_5196+1212]" "p.[=,Met1733Glufs*78]" "36i"
"0000771950" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000771951" "00001847" "70" "6209" "0" "6209" "0" "c.6209C>G" "r.(?)" "p.(Thr2070Arg)" "45"
"0000771952" "00001847" "70" "6209" "0" "6209" "0" "c.6209C>G" "r.(?)" "p.(Thr2070Arg)" "45"
"0000771953" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000771954" "00001847" "70" "161" "0" "161" "0" "c.161G>A" "r.[161_302del,161g>a]" "p.[Cys54Serfs*14,Cys54Tyr]" "3"
"0000771955" "00001847" "70" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" "44"
"0000771956" "00001847" "50" "4774" "-27" "4774" "-27" "c.4774-27T>C" "r.(?)" "p.(?)" "33i"
"0000771957" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000771958" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000771959" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000771960" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000771961" "00001847" "70" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" "31"
"0000771962" "00001847" "90" "5933" "0" "5943" "0" "c.5933_5943dup" "r.(?)" "p.(Phe1982Lysfs*14)" "43"
"0000771963" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000771964" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000771965" "00001847" "70" "3329" "-17" "3329" "-17" "c.3329-17T>G" "r.spl?" "p.(?)" "22i"
"0000771966" "00001847" "90" "1906" "0" "1906" "0" "c.1906C>T" "r.(?)" "p.(Gln636*)" "13"
"0000771967" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000771968" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000771969" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000771970" "00001847" "70" "1253" "0" "1253" "0" "c.1253T>C" "r.(?)" "p.(Phe418Ser)" "10"
"0000771971" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000771972" "00001847" "90" "5904" "0" "5904" "0" "c.5904del" "r.(?)" "p.(Phe1968Leufs*6)" "43"
"0000771973" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000771974" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000771975" "00001847" "70" "4670" "0" "4670" "0" "c.4670A>G" "r.(?)" "p.(Tyr1557Cys)" "33"
"0000771976" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000771977" "00001847" "70" "6729" "5" "6729" "19" "c.6729+5_6729+19del" "r.6480_6729del" "p.(Phe2161Cysfs*3)" "48i"
"0000771978" "00001847" "90" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973*)" "43"
"0000771979" "00001847" "90" "2099" "0" "2099" "0" "c.2099G>A" "r.(?)" "p.(Trp700*)" "14"
"0000771980" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000771981" "00001847" "70" "2461" "0" "2461" "0" "c.2461T>A" "r.(?)" "p.(Trp821Arg)" "16"
"0000771982" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000771983" "00001847" "50" "4297" "0" "4297" "0" "c.4297G>A" "r.(?)" "p.(Val1433Ile)" "29"
"0000771984" "00001847" "90" "2933" "0" "2933" "0" "c.2933G>A" "r.(?)" "p.(Gly978Asp)" "20"
"0000771985" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000771986" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000771987" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000771988" "00001847" "90" "247" "0" "250" "0" "c.247_250dup" "r.(?)" "p.(Ser84Thrfs*16)" "3"
"0000771989" "00001847" "90" "1239" "1" "1239" "1" "c.1239+1G>C" "r.spl" "p.?" "9i"
"0000771990" "00001847" "90" "2345" "0" "2345" "0" "c.2345G>A" "r.(?)" "p.(Trp782*)" "15"
"0000771991" "00001847" "70" "2300" "0" "2300" "0" "c.2300T>A" "r.(?)" "p.(Val767Asp)" "15"
"0000771992" "00001847" "70" "3610" "0" "3610" "0" "c.3610G>A" "r.(?)" "p.(Asp1204Asn)" "25"
"0000771993" "00001847" "70" "2461" "0" "2461" "0" "c.2461T>A" "r.(?)" "p.(Trp821Arg)" "16"
"0000771994" "00001847" "50" "2791" "0" "2791" "0" "c.2791G>A" "r.(?)" "p.(Val931Met)" "19"
"0000771995" "00001847" "90" "571" "-1" "571" "-1" "c.571-1G>T" "r.spl" "p.?" "5i"
"0000771996" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000771997" "00001847" "50" "2791" "0" "2791" "0" "c.2791G>A" "r.(?)" "p.(Val931Met)" "19"
"0000771998" "00001847" "90" "1937" "1" "1937" "1" "c.1937+1G>A" "r.spl" "p.?" "13i"
"0000771999" "00001847" "70" "2069" "0" "2069" "0" "c.2069G>T" "r.(?)" "p.(Gly690Val)" "14"
"0000772000" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000772001" "00001847" "90" "4437" "0" "4437" "0" "c.4437G>A" "r.(?)" "p.(Trp1479*)" "30"
"0000772002" "00001847" "90" "3292" "0" "3292" "0" "c.3292C>T" "r.(?)" "p.(Arg1098Cys)" "22"
"0000772003" "00001847" "50" "1846" "0" "1846" "0" "c.1846G>A" "r.(?)" "p.(Glu616Lys)" "13"
"0000772004" "00001847" "70" "4417" "0" "4417" "0" "c.4417C>A" "r.(?)" "p.(Leu1473Met)" "30"
"0000772005" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000772006" "00001847" "70" "2461" "0" "2461" "0" "c.2461T>A" "r.(?)" "p.(Trp821Arg)" "16"
"0000772007" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000772008" "00001847" "70" "2887" "0" "2887" "0" "c.2887G>C" "r.(?)" "p.(Gly963Arg)" "19"
"0000772009" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000772010" "00001847" "90" "4667" "1" "4667" "1" "c.4667+1G>A" "r.spl" "p.?" "32i"
"0000772011" "00001847" "70" "288" "0" "288" "0" "c.288C>A" "r.(?)" "p.(Asn96Lys)" "3"
"0000772012" "00001847" "70" "4383" "0" "4383" "0" "c.4383G>C" "r.(?)" "p.(Trp1461Cys)" "30"
"0000772013" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000772014" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000772015" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000772016" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000772017" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000772018" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000772019" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000772020" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000772021" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000772022" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000772023" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000772024" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000772025" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000772026" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000772027" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000772028" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000772029" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000772030" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000772031" "00001847" "70" "2908" "0" "2908" "0" "c.2908A>C" "r.(?)" "p.(Thr970Pro)" "19"
"0000772032" "00001847" "90" "3584" "0" "3585" "0" "c.3584_3585insGT" "r.(?)" "p.(Thr1196*)" "24"
"0000772033" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000772034" "00001847" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408*)" "9"
"0000772035" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000772036" "00001847" "70" "6449" "0" "6449" "0" "c.6449G>A" "r.(?)" "p.(Cys2150Tyr)" "47"
"0000772037" "00001847" "70" "4537" "0" "4537" "0" "c.4537C>G" "r.(?)" "p.(Gln1513Glu)" "30"
"0000772038" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000772039" "00001847" "90" "2041" "0" "2041" "0" "c.2041C>T" "r.(?)" "p.(Arg681*)" "14"
"0000772040" "00001847" "70" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.[=,5196_5197ins5196+1140_5196+1212]" "p.[=,Met1733Glufs*78]" "36i"
"0000772041" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000772042" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000772043" "00001847" "70" "2947" "0" "2947" "0" "c.2947A>G" "r.(?)" "p.(Thr983Ala)" "20"
"0000772044" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000772045" "00001847" "70" "4222" "0" "4222" "0" "c.4222T>C" "r.(?)" "p.(Trp1408Arg)" "28"
"0000772046" "00001847" "50" "4739" "0" "4739" "0" "c.4739T>C" "r.(?)" "p.(Leu1580Ser)" "33"
"0000772047" "00001847" "70" "4457" "0" "4457" "0" "c.4457C>T" "r.(?)" "p.(Pro1486Leu)" "30"
"0000772048" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000772049" "00001847" "90" "4234" "0" "4234" "0" "c.4234C>T" "r.(?)" "p.(Gln1412*)" "28"
"0000772050" "00001847" "70" "6229" "0" "6229" "0" "c.6229C>T" "r.(?)" "p.(Arg2077Trp)" "45"
"0000772051" "00001847" "90" "5899" "-2" "5899" "-2" "c.5899-2del" "r.(?)" "p.(?)" "42i"
"0000772052" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000772053" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000772054" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000772055" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000772056" "00001847" "90" "5316" "0" "5316" "0" "c.5316G>A" "r.(?)" "p.(Trp1772*)" "38"
"0000772057" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000772058" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000772059" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000772060" "00001847" "90" "2966" "0" "2966" "0" "c.2966T>C" "r.(?)" "p.(Val989Ala)" "20"
"0000772061" "00001847" "70" "262" "0" "262" "0" "c.262G>A" "r.(?)" "p.(Gly88Arg)" "3"
"0000772062" "00001847" "90" "2971" "0" "2971" "0" "c.2971G>C" "r.(?)" "p.(Gly991Arg)" "20"
"0000772063" "00001847" "70" "161" "0" "161" "0" "c.161G>A" "r.[161_302del,161g>a]" "p.[Cys54Serfs*14,Cys54Tyr]" "3"
"0000772064" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000772065" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000772066" "00001847" "70" "3041" "0" "3041" "0" "c.3041T>G" "r.(?)" "p.(Leu1014Arg)" "20"
"0000772067" "00001847" "90" "1988" "0" "1988" "0" "c.1988G>A" "r.(?)" "p.(Trp663*)" "14"
"0000772068" "00001847" "70" "6229" "0" "6229" "0" "c.6229C>T" "r.(?)" "p.(Arg2077Trp)" "45"
"0000772069" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000772070" "00001847" "70" "5113" "0" "5113" "0" "c.5113C>T" "r.(?)" "p.(Arg1705Trp)" "36"
"0000772071" "00001847" "70" "2915" "0" "2915" "0" "c.2915C>A" "r.(?)" "p.(Thr972Asn)" "19"
"0000772072" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000772073" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000772074" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000772075" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000772076" "00001847" "90" "2564" "0" "2564" "0" "c.2564G>A" "r.(?)" "p.(Trp855*)" "16"
"0000772077" "00001847" "90" "2041" "0" "2041" "0" "c.2041C>T" "r.(?)" "p.(Arg681*)" "14"
"0000772078" "00001847" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408*)" "9"
"0000772079" "00001847" "90" "4537" "0" "4537" "0" "c.4537del" "r.(?)" "p.(Gln1513Argfs*13)" "30"
"0000772080" "00001847" "70" "1805" "0" "1805" "0" "c.1805G>A" "r.(?)" "p.(Arg602Gln)" "13"
"0000772081" "00001847" "90" "2893" "0" "2893" "0" "c.2893A>T" "r.(?)" "p.(Asn965Tyr)" "19"
"0000772082" "00001847" "90" "1957" "0" "1957" "0" "c.1957C>T" "r.(?)" "p.(Arg653Cys)" "14"
"0000772083" "00001847" "70" "859" "-9" "859" "-9" "c.859-9T>C" "r.[=,859_1356del]" "p.[=,Phe287_Arg452del]" "7i"
"0000772084" "00001847" "70" "3287" "0" "3287" "0" "c.3287C>T" "r.(?)" "p.(Ser1096Leu)" "22"
"0000772085" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000772086" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000772087" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000772088" "00001847" "50" "5761" "0" "5761" "0" "c.5761G>A" "r.(?)" "p.(Val1921Met)" "41"
"0000772089" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000772090" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000772091" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000772092" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000772093" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000772094" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000772095" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000772096" "00001847" "70" "4505" "0" "4505" "0" "c.4505G>A" "r.(?)" "p.(Cys1502Tyr)" "30"
"0000772097" "00001847" "70" "71" "0" "71" "0" "c.71G>A" "r.(?)" "p.(Arg24Cys)" "2"
"0000772098" "00001847" "50" "101" "0" "106" "0" "c.101_106del" "r.(?)" "p.(Ser34_Leu35del)" "2"
"0000772099" "00001847" "70" "6113" "0" "6113" "0" "c.6113G>A" "r.(?)" "p.(Arg2038Gln)" "44"
"0000772100" "00001847" "90" "858" "2" "858" "2" "c.858+2T>A" "r.spl" "p.?" "7i"
"0000772101" "00001847" "70" "5435" "0" "5435" "0" "c.5435T>A" "r.(?)" "p.(Ile1812Asn)" "38"
"0000772102" "00001847" "90" "1561" "0" "1561" "0" "c.1561del" "r.(?)" "p.(Val521Serfs*47)" "12"
"0000772103" "00001847" "70" "1531" "0" "1531" "0" "c.1531C>T" "r.(?)" "p.(Arg511Cys)" "11"
"0000772104" "00001847" "90" "2424" "0" "2424" "0" "c.2424C>G" "r.(?)" "p.(Tyr808*)" "16"
"0000772105" "00001847" "90" "2424" "0" "2424" "0" "c.2424C>G" "r.(?)" "p.(Tyr808*)" "16"
"0000772106" "00001847" "90" "6479" "1" "6479" "1" "c.6479+1G>C" "r.spl" "p.?" "47i"
"0000772107" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000772108" "00001847" "90" "400" "0" "400" "0" "c.400C>T" "r.(?)" "p.(Gln134*)" "4"
"0000772109" "00001847" "70" "3329" "-3" "3329" "-3" "c.3329-3C>G" "r.spl?" "p.(?)" "22i"
"0000772110" "00001847" "90" "4555" "0" "4555" "0" "c.4555del" "r.(?)" "p.(Thr1519Argfs*7)" "31"
"0000772111" "00001847" "50" "101" "0" "106" "0" "c.101_106del" "r.(?)" "p.(Ser34_Leu35del)" "2"
"0000772112" "00001847" "50" "101" "0" "106" "0" "c.101_106del" "r.(?)" "p.(Ser34_Leu35del)" "2"
"0000772113" "00001847" "70" "4070" "0" "4070" "0" "c.4070C>A" "r.(?)" "p.(Ala1357Glu)" "27"
"0000772114" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000772115" "00001847" "70" "2827" "0" "2827" "0" "c.2827C>T" "r.(?)" "p.(Arg943Trp)" "19"
"0000772116" "00001847" "90" "5196" "1" "5196" "1" "c.5196+1G>A" "r.spl" "p.?" "36i"
"0000772117" "00001847" "90" "1937" "1" "1937" "1" "c.1937+1G>A" "r.spl" "p.?" "13i"
"0000772118" "00001847" "90" "3" "0" "3" "0" "c.3G>A" "r.(?)" "p.(Met1Ile)" "1"
"0000772119" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000772120" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000772121" "00001847" "90" "4276" "0" "4276" "0" "c.4276C>T" "r.(?)" "p.(Gln1426*)" "29"
"0000772122" "00001847" "90" "2424" "0" "2424" "0" "c.2424C>G" "r.(?)" "p.(Tyr808*)" "16"
"0000772123" "00001847" "90" "4387" "0" "4387" "0" "c.4387del" "r.(?)" "p.(Thr1463Leufs*63)" "30"
"0000772124" "00001847" "90" "5196" "1" "5196" "1" "c.5196+1G>A" "r.spl" "p.?" "36i"
"0000772125" "00001847" "90" "1035" "0" "1035" "0" "c.1035T>G" "r.(?)" "p.(Tyr345*)" "8"
"0000772126" "00001847" "50" "101" "0" "106" "0" "c.101_106del" "r.(?)" "p.(Ser34_Leu35del)" "2"
"0000772127" "00001847" "90" "1035" "0" "1035" "0" "c.1035T>G" "r.(?)" "p.(Tyr345*)" "8"
"0000772128" "00001847" "70" "4610" "0" "4610" "0" "c.4610C>T" "r.(?)" "p.(Thr1537Met)" "31"
"0000772129" "00001847" "70" "2948" "0" "2948" "0" "c.2948C>T" "r.(?)" "p.(Thr983Ile)" "20"
"0000772130" "00001847" "70" "1892" "0" "1892" "0" "c.1892G>T" "r.(?)" "p.(Gly631Val)" "13"
"0000772131" "00001847" "90" "6088" "0" "6088" "0" "c.6088C>T" "r.(?)" "p.(Arg2030*)" "44"
"0000772132" "00001847" "90" "1561" "0" "1561" "0" "c.1561del" "r.(?)" "p.(Val521Serfs*47)" "12"
"0000772133" "00001847" "90" "2750" "0" "2750" "0" "c.2750del" "r.(?)" "p.(Phe917Serfs*15)" "19"
"0000772134" "00001847" "90" "454" "0" "454" "0" "c.454C>T" "r.(?)" "p.(Arg152*)" "5"
"0000772135" "00001847" "70" "4995" "0" "4995" "0" "c.4995G>T" "r.(?)" "p.(Lys1665Asn)" "35"
"0000772136" "00001847" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408*)" "9"
"0000772137" "00001847" "70" "2923" "0" "2924" "0" "c.2923_2924insAACACAGGTCCA" "r.(?)" "p.(Ser974_Ile975insLysHisArgSer)" "20"
"0000772138" "00001847" "90" "2063" "0" "2063" "0" "c.2063dup" "r.(?)" "p.(Asn688Lysfs*78)" "14"
"0000772139" "00001847" "50" "3194" "0" "3194" "0" "c.3194G>T" "r.(?)" "p.(Gly1065Val)" "22"
"0000772140" "00001847" "90" "6181" "0" "6184" "0" "c.6181_6184del" "r.(?)" "p.(Thr2061Serfs*53)" "45"
"0000772141" "00001847" "70" "2032" "0" "2034" "0" "c.2032_2034del" "r.(?)" "p.(Lys678del)" "14"
"0000772142" "00001847" "90" "2424" "0" "2424" "0" "c.2424C>G" "r.(?)" "p.(Tyr808*)" "16"
"0000772143" "00001847" "90" "1160" "0" "1160" "0" "c.1160G>A" "r.(?)" "p.(Trp387*)" "9"
"0000772144" "00001847" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408*)" "9"
"0000772145" "00001847" "70" "983" "0" "983" "0" "c.983A>T" "r.(?)" "p.(Glu328Val)" "8"
"0000772146" "00001847" "50" "101" "0" "106" "0" "c.101_106del" "r.(?)" "p.(Ser34_Leu35del)" "2"
"0000772147" "00001847" "90" "6088" "0" "6088" "0" "c.6088C>T" "r.(?)" "p.(Arg2030*)" "44"
"0000772148" "00001847" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408*)" "9"
"0000772149" "00001847" "70" "3266" "0" "3266" "0" "c.3266C>T" "r.(?)" "p.(Thr1089Ile)" "22"
"0000772150" "00001847" "90" "4437" "0" "4437" "0" "c.4437G>A" "r.(?)" "p.(Trp1479*)" "30"
"0000772151" "00001847" "90" "2424" "0" "2424" "0" "c.2424C>G" "r.(?)" "p.(Tyr808*)" "16"
"0000772152" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000772153" "00001847" "90" "4605" "0" "4606" "0" "c.4605_4606insT" "r.(?)" "p.(Lys1536*)" "31"
"0000772154" "00001847" "50" "101" "0" "106" "0" "c.101_106del" "r.(?)" "p.(Ser34_Leu35del)" "2"
"0000772155" "00001847" "70" "6125" "0" "6125" "0" "c.6125T>G" "r.(?)" "p.(Val2042Gly)" "44"
"0000772156" "00001847" "70" "5318" "0" "5318" "0" "c.5318C>T" "r.(?)" "p.(Ala1773Val)" "38"
"0000772157" "00001847" "90" "454" "0" "454" "0" "c.454C>T" "r.(?)" "p.(Arg152*)" "5"
"0000772158" "00001847" "70" "2827" "0" "2827" "0" "c.2827C>T" "r.(?)" "p.(Arg943Trp)" "19"
"0000772159" "00001847" "90" "1819" "0" "1819" "0" "c.1819G>A" "r.(?)" "p.(Gly607Arg)" "13"
"0000772160" "00001847" "70" "5929" "0" "5929" "0" "c.5929G>A" "r.(?)" "p.(Gly1977Ser)" "43"
"0000772161" "00001847" "90" "3871" "0" "3871" "0" "c.3871C>T" "r.(?)" "p.(Gln1291*)" "27"
"0000772162" "00001847" "90" "5019" "-1" "5019" "-1" "c.5019-1G>A" "r.(?)" "p.(?)" "35i"
"0000772163" "00001847" "90" "4853" "0" "4853" "0" "c.4853G>A" "r.(?)" "p.(Trp1618*)" "35"
"0000772164" "00001847" "70" "2908" "0" "2908" "0" "c.2908A>G" "r.(?)" "p.(Thr970Ala)" "19"
"0000772165" "00001847" "70" "2536" "0" "2536" "0" "c.2536G>A" "r.(?)" "p.(Asp846Asn)" "16"
"0000772166" "00001847" "90" "1714" "0" "1714" "0" "c.1714C>T" "r.(?)" "p.(Arg572*)" "12"
"0000772167" "00001847" "90" "5196" "1" "5196" "1" "c.5196+1G>A" "r.spl" "p.?" "36i"
"0000772168" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000772169" "00001847" "70" "4253" "5" "4253" "5" "c.4253+5G>A" "r.4129_4253del" "p.(Ile1377Hisfs*3)" "28i"
"0000772170" "00001847" "70" "71" "0" "71" "0" "c.71G>A" "r.(?)" "p.(Arg24Cys)" "2"
"0000772171" "00001847" "90" "1680" "0" "1680" "0" "c.1680del" "r.(?)" "p.(Ser561Alafs*7)" "12"
"0000772172" "00001847" "90" "2424" "0" "2424" "0" "c.2424C>G" "r.(?)" "p.(Tyr808*)" "16"
"0000772173" "00001847" "90" "1561" "0" "1561" "0" "c.1561del" "r.(?)" "p.(Val521Serfs*47)" "12"
"0000772174" "00001847" "90" "1006" "0" "1006" "0" "c.1006del" "r.(?)" "p.(Ser336Profs*38)" "8"
"0000772175" "00001847" "70" "3547" "0" "3547" "0" "c.3547G>T" "r.(?)" "p.(Gly1183Cys)" "24"
"0000772176" "00001847" "90" "1561" "0" "1561" "0" "c.1561del" "r.(?)" "p.(Val521Serfs*47)" "12"
"0000772177" "00001847" "50" "101" "0" "106" "0" "c.101_106del" "r.(?)" "p.(Ser34_Leu35del)" "2"
"0000772178" "00001847" "90" "3871" "0" "3871" "0" "c.3871C>T" "r.(?)" "p.(Gln1291*)" "27"
"0000772179" "00001847" "90" "2424" "0" "2424" "0" "c.2424C>G" "r.(?)" "p.(Tyr808*)" "16"
"0000772180" "00001847" "90" "1496" "0" "1496" "0" "c.1496G>A" "r.(?)" "p.(Trp499*)" "11"
"0000772181" "00001847" "70" "5645" "0" "5645" "0" "c.5645T>C" "r.(?)" "p.(Met1882Thr)" "40"
"0000772182" "00001847" "90" "2424" "0" "2424" "0" "c.2424C>G" "r.(?)" "p.(Tyr808*)" "16"
"0000772183" "00001847" "90" "769" "-1" "769" "-1" "c.769-1G>A" "r.spl" "p.?" "6i"
"0000772184" "00001847" "90" "5196" "1" "5196" "1" "c.5196+1G>A" "r.spl" "p.?" "36i"
"0000772185" "00001847" "70" "2282" "0" "2282" "0" "c.2282C>T" "r.(?)" "p.(Ala761Val)" "15"
"0000772186" "00001847" "70" "2537" "0" "2537" "0" "c.2537A>T" "r.(?)" "p.(Asp846Val)" "16"
"0000772187" "00001847" "90" "1761" "-2" "1761" "-2" "c.1761-2A>G" "r.spl" "p.?" "13"
"0000772188" "00001847" "90" "4948" "0" "4948" "0" "c.4948G>T" "r.(?)" "p.(Glu1650*)" "35"
"0000772189" "00001847" "90" "1006" "0" "1006" "0" "c.1006del" "r.(?)" "p.(Ser336Profs*38)" "8"
"0000772190" "00001847" "90" "505" "0" "505" "0" "c.505A>T" "r.(?)" "p.(Lys169*)" "5"
"0000772191" "00001847" "70" "1531" "0" "1531" "0" "c.1531C>T" "r.(?)" "p.(Arg511Cys)" "11"
"0000772192" "00001847" "70" "1609" "0" "1609" "0" "c.1609C>T" "r.(?)" "p.(Arg537Cys)" "12"
"0000772193" "00001847" "70" "70" "0" "70" "0" "c.70C>T" "r.(?)" "p.[IIe23IIefs*30,=]" "2"
"0000772194" "00001847" "70" "6147" "9" "6147" "9" "c.6147+9T>A" "r.spl?" "p.(?)" "44i"
"0000772195" "00001847" "90" "1318" "0" "1318" "0" "c.1318del" "r.(?)" "p.(Tyr440Thrfs*9)" "10"
"0000772196" "00001847" "90" "3812" "0" "3812" "0" "c.3812del" "r.(?)" "p.(Glu1271Glyfs*4)" "25"
"0000772197" "00001847" "90" "5776" "0" "5776" "0" "c.5776C>T" "r.(?)" "p.(Gln1926*)" "41"
"0000772198" "00001847" "90" "885" "0" "885" "0" "c.885del" "r.(?)" "p.(Leu296Cysfs*4)" "8"
"0000772199" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000772200" "00001847" "90" "2587" "0" "2587" "6" "c.2587_2587+6del" "r.spl" "p.(Gly863Glufs*38)" "16_16i"
"0000772201" "00001847" "90" "4320" "0" "4320" "0" "c.4320del" "r.(?)" "p.(Phe1440Leufs*6)" "29"
"0000772202" "00001847" "50" "101" "0" "106" "0" "c.101_106del" "r.(?)" "p.(Ser34_Leu35del)" "2"
"0000772203" "00001847" "90" "2424" "0" "2424" "0" "c.2424C>G" "r.(?)" "p.(Tyr808*)" "16"
"0000772204" "00001847" "90" "1561" "0" "1561" "0" "c.1561del" "r.(?)" "p.(Val521Serfs*47)" "12"
"0000772205" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000772206" "00001847" "70" "1892" "0" "1892" "0" "c.1892G>T" "r.(?)" "p.(Gly631Val)" "13"
"0000772207" "00001847" "90" "4539" "1100" "4539" "1100" "c.4539+1100A>G" "r.[4539_4540ins4539+1033_4539+1100,4539_4540ins4539+989_4539+1100,=]" "p.[Arg1514Valfs*31,Arg1514Glyfs*3,=]" "30i"
"0000772208" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000772209" "00001847" "70" "2903" "0" "2903" "0" "c.2903G>C" "r.(?)" "p.(Gly968Ala)" "19"
"0000772210" "00001847" "50" "6207" "0" "6207" "0" "c.6207C>T" "r.(?)" "p.(Gly2069=)" "45"
"0000772211" "00001847" "90" "517" "0" "517" "0" "c.517del" "r.(?)" "p.(Leu173Cysfs*9)" "5"
"0000772212" "00001847" "90" "1561" "0" "1561" "0" "c.1561del" "r.(?)" "p.(Val521Serfs*47)" "12"
"0000772213" "00001847" "90" "1382" "0" "1383" "0" "c.1382_1383del" "r.(?)" "p.(Lys461Argfs*5)" "11"
"0000772214" "00001847" "70" "2861" "0" "2861" "0" "c.2861A>G" "r.(?)" "p.(Tyr954Cys)" "19"
"0000772215" "00001847" "90" "6118" "0" "6118" "0" "c.6118C>T" "r.(?)" "p.(Arg2040*)" "44"
"0000772216" "00001847" "90" "6118" "0" "6118" "0" "c.6118C>T" "r.(?)" "p.(Arg2040*)" "44"
"0000772217" "00001847" "70" "2948" "0" "2948" "0" "c.2948C>T" "r.(?)" "p.(Thr983Ile)" "20"
"0000772218" "00001847" "70" "2948" "0" "2948" "0" "c.2948C>T" "r.(?)" "p.(Thr983Ile)" "20"
"0000772219" "00001847" "90" "454" "0" "454" "0" "c.454C>T" "r.(?)" "p.(Arg152*)" "5"
"0000772220" "00001847" "90" "4605" "0" "4606" "0" "c.4605_4606insT" "r.(?)" "p.(Lys1536*)" "31"
"0000772221" "00001847" "90" "1006" "0" "1006" "0" "c.1006del" "r.(?)" "p.(Ser336Profs*38)" "8"
"0000772222" "00001847" "50" "2437" "0" "2437" "0" "c.2437G>A" "r.(?)" "p.(Glu813Lys)" "16"
"0000772223" "00001847" "70" "3547" "0" "3547" "0" "c.3547G>T" "r.(?)" "p.(Gly1183Cys)" "24"
"0000772224" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000772225" "00001847" "90" "319" "0" "319" "0" "c.319C>T" "r.(?)" "p.(Arg107*)" "4"
"0000772226" "00001847" "70" "6563" "0" "6563" "0" "c.6563T>C" "r.(?)" "p.(Phe2188Ser)" "48"
"0000772227" "00001847" "90" "1356" "1" "1356" "1" "c.1356+1G>A" "r.spl" "p.?" "10i"
"0000772228" "00001847" "90" "885" "0" "885" "0" "c.885del" "r.(?)" "p.(Leu296Cysfs*4)" "8"
"0000772229" "00001847" "90" "2424" "0" "2424" "0" "c.2424C>G" "r.(?)" "p.(Tyr808*)" "16"
"0000772230" "00001847" "90" "5898" "1" "5898" "1" "c.5898+1G>A" "r.spl" "p.?" "42i"
"0000772231" "00001847" "90" "6282" "1" "6282" "1" "c.6282+1G>C" "r.spl" "p.?" "45i"
"0000772232" "00001847" "50" "1294" "0" "1294" "0" "c.1294G>A" "r.(?)" "p.(Glu432Lys)" "10"
"0000772233" "00001847" "90" "6118" "0" "6118" "0" "c.6118C>T" "r.(?)" "p.(Arg2040*)" "44"
"0000772234" "00001847" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408*)" "9"
"0000772235" "00001847" "90" "6480" "-1" "6480" "-1" "c.6480-1G>T" "r.spl" "p.?" "47i"
"0000772236" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000772237" "00001847" "70" "161" "0" "161" "0" "c.161G>A" "r.[161_302del,161g>a]" "p.[Cys54Serfs*14,Cys54Tyr]" "3"
"0000772238" "00001847" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408*)" "9"
"0000772239" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000772240" "00001847" "70" "6229" "0" "6229" "0" "c.6229C>T" "r.(?)" "p.(Arg2077Trp)" "45"
"0000772241" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000772242" "00001847" "90" "318" "0" "318" "0" "c.318T>G" "r.(?)" "p.(Tyr106*)" "4"
"0000772243" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000772244" "00001847" "70" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" "44"
"0000772245" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.[(768g>u;768_769ins768+1_768+35)]" "p.(Leu257Valfs*17)" "6"
"0000772246" "00001847" "90" "2966" "0" "2966" "0" "c.2966T>C" "r.(?)" "p.(Val989Ala)" "20"
"0000772247" "00001847" "90" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973*)" "43"
"0000772248" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000772249" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000772250" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000772251" "00001847" "90" "5898" "2" "5898" "2" "c.5898+2T>C" "r.spl" "p.?" "42i"
"0000772252" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000772253" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000772254" "00001847" "90" "2041" "0" "2041" "0" "c.2041C>T" "r.(?)" "p.(Arg681*)" "14"
"0000772255" "00001847" "70" "5318" "0" "5318" "0" "c.5318C>T" "r.(?)" "p.(Ala1773Val)" "38"
"0000772256" "00001847" "70" "618" "0" "618" "0" "c.618C>G" "r.(?)" "p.(Ser206Arg)" "6"
"0000772257" "00001847" "90" "4346" "0" "4346" "0" "c.4346G>A" "r.(?)" "p.(Trp1449*)" "29"
"0000772258" "00001847" "90" "122" "0" "122" "0" "c.122G>A" "r.(?)" "p.(Trp41*)" "2"
"0000772259" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000772260" "00001847" "70" "5219" "0" "5219" "0" "c.5219G>A" "r.(?)" "p.(Gly1740Glu)" "37"
"0000772261" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000772262" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000772263" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000772264" "00001847" "70" "3364" "0" "3364" "0" "c.3364G>A" "r.(?)" "p.(Glu1122Lys)" "23"
"0000772265" "00001847" "90" "5337" "0" "5337" "0" "c.5337C>G" "r.(?)" "p.(Tyr1779*)" "38"
"0000772266" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000772267" "00001847" "70" "32" "0" "32" "0" "c.32T>C" "r.(?)" "p.(Leu11Pro)" "1"
"0000772268" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000772269" "00001847" "50" "6283" "-6" "6283" "-6" "c.6283-6C>A" "r.(?)" "p.(?)" "45i"
"0000772270" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000772271" "00001847" "70" "4124" "0" "4124" "0" "c.4124C>A" "r.(?)" "p.(Ala1375Glu)" "27"
"0000772272" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000772273" "00001847" "70" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" "31"
"0000772274" "00001847" "70" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" "35"
"0000772275" "00001847" "70" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" "35"
"0000772276" "00001847" "70" "6221" "0" "6221" "0" "c.6221G>T" "r.(?)" "p.(Gly2074Val)" "45"
"0000772277" "00001847" "90" "5196" "1" "5196" "1" "c.5196+1G>A" "r.spl" "p.?" "36i"
"0000772278" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000772279" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000772280" "00001847" "90" "2041" "0" "2041" "0" "c.2041C>T" "r.(?)" "p.(Arg681*)" "14"
"0000772281" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000772282" "00001847" "90" "3056" "0" "3056" "0" "c.3056C>T" "r.(?)" "p.(Thr1019Met)" "21"
"0000772283" "00001847" "90" "4537" "0" "4537" "0" "c.4537dup" "r.(?)" "p.(Gln1513Profs*42)" "30"
"0000772284" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000772285" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000772286" "00001847" "90" "666" "0" "678" "0" "c.666_678del" "r.(?)" "p.(Lys223Metfs*14)" "6"
"0000772287" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000772288" "00001847" "30" "3330" "0" "3330" "0" "c.3330C>A" "r.(?)" "p.(Gly1110=)" "23"
"0000772289" "00001847" "50" "6806" "0" "6806" "0" "c.6806G>A" "r.(?)" "p.(Arg2269Gln)" "49"
"0000772290" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000772291" "00001847" "70" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" "31"
"0000772292" "00001847" "50" "2576" "0" "2576" "0" "c.2576A>G" "r.(?)" "p.(Gln859Arg)" "16"
"0000772293" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000772294" "00001847" "70" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" "31"
"0000772295" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000772296" "00001847" "70" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" "44"
"0000772297" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000772298" "00001847" "70" "4793" "0" "4793" "0" "c.4793C>A" "r.(?)" "p.(Ala1598Asp)" "34"
"0000772299" "00001847" "90" "564" "0" "564" "0" "c.564del" "r.(?)" "p.(Glu189Serfs*12)" "5"
"0000772300" "00001847" "90" "4290" "0" "4290" "0" "c.4290del" "r.(?)" "p.(Ala1431Glnfs*5)" "29"
"0000772301" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000772302" "00001847" "50" "4771" "0" "4771" "0" "c.4771G>A" "r.(?)" "p.(Gly1591Arg)" "33"
"0000772303" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000772304" "00001847" "90" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.(Met1Val)" "1"
"0000772305" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000772306" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000772307" "00001847" "90" "938" "0" "938" "0" "c.938del" "r.(?)" "p.(Thr313Lysfs*3)" "8"
"0000772308" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000772309" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000772310" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000772311" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000772312" "00001847" "70" "5570" "0" "5570" "0" "c.5570T>G" "r.(?)" "p.(Val1857Gly)" "39"
"0000772313" "00001847" "70" "5196" "2" "5196" "2" "c.5196+2dup" "r.spl?" "p.(?)" "36i"
"0000772314" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000772315" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000772316" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000772317" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000772318" "00001847" "70" "71" "0" "71" "0" "c.71G>A" "r.(?)" "p.(Arg24Cys)" "2"
"0000772319" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000772320" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000772321" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000772322" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000772323" "00001847" "70" "4538" "0" "4538" "0" "c.4538A>C" "r.[4539_4540ins4540+1_4530+30,4467_4539del,4538a>c]" "p.[Pro1513_Arg1514ins10,Cys1490Glufs*12,Gln1513Pro]" "30"
"0000772324" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.[(768g>u;768_769ins768+1_768+35)]" "p.(Leu257Valfs*17)" "6"
"0000772325" "00001847" "70" "6229" "0" "6229" "0" "c.6229C>T" "r.(?)" "p.(Arg2077Trp)" "45"
"0000772326" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000772327" "00001847" "90" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973*)" "43"
"0000772328" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000772329" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.[(768g>u;768_769ins768+1_768+35)]" "p.(Leu257Valfs*17)" "6"
"0000772330" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000772331" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000772332" "00001847" "70" "1609" "0" "1609" "0" "c.1609C>T" "r.(?)" "p.(Arg537Cys)" "12"
"0000772333" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000772334" "00001847" "70" "161" "0" "161" "0" "c.161G>A" "r.[161_302del,161g>a]" "p.[Cys54Serfs*14,Cys54Tyr]" "3"
"0000772335" "00001847" "90" "1957" "0" "1957" "0" "c.1957C>T" "r.(?)" "p.(Arg653Cys)" "14"
"0000772336" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000772337" "00001847" "50" "4195" "0" "4195" "0" "c.4195G>A" "r.(?)" "p.(Glu1399Lys)" "28"
"0000772338" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000772339" "00001847" "90" "6316" "0" "6316" "0" "c.6316C>T" "r.(?)" "p.(Arg2106Cys)" "46"
"0000772340" "00001847" "70" "6221" "0" "6221" "0" "c.6221G>A" "r.(?)" "p.(Gly2074Asp)" "45"
"0000772341" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000772342" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000772343" "00001847" "90" "2616" "0" "2616" "0" "c.2616del" "r.(?)" "p.(Leu874Phefs*27)" "17"
"0000772344" "00001847" "70" "161" "0" "161" "0" "c.161G>A" "r.[161_302del,161g>a]" "p.[Cys54Serfs*14,Cys54Tyr]" "3"
"0000772345" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000772346" "00001847" "90" "666" "0" "678" "0" "c.666_678del" "r.(?)" "p.(Lys223Metfs*14)" "6"
"0000772347" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000772348" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000772349" "00001847" "50" "3883" "0" "3883" "0" "c.3883G>A" "r.(?)" "p.(Glu1295Lys)" "27"
"0000772350" "00001847" "50" "4195" "0" "4195" "0" "c.4195G>A" "r.(?)" "p.(Glu1399Lys)" "28"
"0000772351" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000772352" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000772353" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000772354" "00001847" "50" "4715" "0" "4715" "0" "c.4715C>T" "r.(?)" "p.(Thr1572Met)" "33"
"0000772355" "00001847" "90" "1561" "0" "1561" "0" "c.1561del" "r.(?)" "p.(Val521Serfs*47)" "12"
"0000772356" "00001847" "50" "443" "-5" "443" "-5" "c.443-5T>C" "r.(?)" "p.(?)" "4i"
"0000772357" "00001847" "90" "302" "1" "302" "1" "c.302+1G>A" "r.spl" "p.?" "3i"
"0000772358" "00001847" "90" "2971" "0" "2971" "0" "c.2971G>C" "r.(?)" "p.(Gly991Arg)" "20"
"0000772359" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000772360" "00001847" "70" "1609" "0" "1609" "0" "c.1609C>T" "r.(?)" "p.(Arg537Cys)" "12"
"0000772361" "00001847" "50" "2701" "0" "2701" "0" "c.2701A>G" "r.(?)" "p.(Thr901Ala)" "18"
"0000772362" "00001847" "50" "1356" "5" "1356" "6" "c.1356+5_1356+6insC" "r.spl?" "p.(?)" "10i"
"0000772363" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000772364" "00001847" "70" "1015" "0" "1015" "0" "c.1015T>G" "r.(?)" "p.(Trp339Gly)" "8"
"0000772365" "00001847" "50" "4771" "0" "4771" "0" "c.4771G>A" "r.(?)" "p.(Gly1591Arg)" "33"
"0000772366" "00001847" "50" "1938" "-605" "1938" "-605" "c.1938-605C>T" "r.(?)" "p.(?)" "13i"
"0000772367" "00001847" "50" "6148" "0" "6148" "0" "c.6148G>C" "r.=" "p.(Val2050Leu)" "45"
"0000772368" "00001847" "90" "247" "0" "250" "0" "c.247_250dup" "r.(?)" "p.(Ser84Thrfs*16)" "3"
"0000772369" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000772370" "00001847" "90" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071Cysfs*14)" "22"
"0000772371" "00001847" "50" "4685" "0" "4685" "0" "c.4685T>C" "r.(?)" "p.(Ile1562Thr)" "33"
"0000772372" "00001847" "50" "619" "0" "619" "0" "c.619G>C" "r.(?)" "p.(Glu207Gln)" "6"
"0000772373" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000772374" "00001847" "90" "2041" "0" "2041" "0" "c.2041C>T" "r.(?)" "p.(Arg681*)" "14"
"0000772375" "00001847" "90" "6286" "0" "6286" "0" "c.6286G>A" "r.(?)" "p.(Glu2096Lys)" "46"
"0000772376" "00001847" "90" "4537" "0" "4537" "0" "c.4537dup" "r.(?)" "p.(Gln1513Profs*42)" "30"
"0000772377" "00001847" "90" "2564" "0" "2564" "0" "c.2564G>A" "r.(?)" "p.(Trp855*)" "16"
"0000772378" "00001847" "70" "4594" "0" "4594" "0" "c.4594G>A" "r.(?)" "p.(Asp1532Asn)" "31"
"0000772379" "00001847" "70" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" "44"
"0000772380" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000772381" "00001847" "70" "4978" "0" "4978" "0" "c.4978C>T" "r.(?)" "p.(Pro1660Ser)" "35"
"0000772382" "00001847" "50" "4342" "0" "4342" "0" "c.4342G>A" "r.(?)" "p.(Gly1448Arg)" "29"
"0000772383" "00001847" "50" "3606" "0" "3606" "0" "c.3606T>C" "r.(?)" "p.(Asp1202=)" "24"
"0000772384" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000772385" "00001847" "50" "298" "0" "298" "0" "c.298T>C" "r.(?)" "p.(Ser100Pro)" "3"
"0000772386" "00001847" "70" "5281" "0" "5289" "0" "c.5281_5289del" "r.(?)" "p.(Pro1761_Leu1763del)" "37"
"0000772387" "00001847" "50" "1140" "0" "1140" "0" "c.1140T>A" "r.(?)" "p.(Asn380Lys)" "9"
"0000772388" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000772389" "00001847" "30" "596" "0" "596" "0" "c.596C>T" "r.(?)" "p.(Ala199Val)" "6"
"0000772390" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000772391" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000772392" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000772393" "00001847" "50" "4297" "0" "4297" "0" "c.4297G>A" "r.(?)" "p.(Val1433Ile)" "29"
"0000772394" "00001847" "50" "2791" "0" "2791" "0" "c.2791G>A" "r.(?)" "p.(Val931Met)" "19"
"0000772395" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000772396" "00001847" "90" "5453" "0" "5453" "0" "c.5453del" "r.(?)" "p.(Asn1818Ilefs*12)" "38"
"0000772397" "00001847" "50" "2690" "0" "2690" "0" "c.2690C>T" "r.(?)" "p.(Thr897Ile)" "18"
"0000772398" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000772399" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000772400" "00001847" "50" "466" "0" "466" "0" "c.466A>G" "r.(?)" "p.(Ile156Val)" "5"
"0000772401" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000772402" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000772403" "00001847" "50" "677" "0" "677" "0" "c.677G>T" "r.(?)" "p.(Arg226Leu)" "6"
"0000772404" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000772405" "00001847" "90" "2971" "0" "2971" "0" "c.2971G>C" "r.(?)" "p.(Gly991Arg)" "20"
"0000772406" "00001847" "50" "5413" "0" "5413" "0" "c.5413A>G" "r.(?)" "p.(Asn1805Asp)" "38"
"0000772407" "00001847" "90" "3259" "0" "3259" "0" "c.3259G>A" "r.(?)" "p.(Glu1087Lys)" "22"
"0000772408" "00001847" "90" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071Cysfs*14)" "22"
"0000772409" "00001847" "90" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071Cysfs*14)" "22"
"0000772410" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000772411" "00001847" "90" "123" "0" "123" "0" "c.123G>A" "r.(?)" "p.(Trp41*)" "2"
"0000772412" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000772413" "00001847" "90" "3898" "0" "3898" "0" "c.3898C>T" "r.(?)" "p.(Arg1300*)" "27"
"0000772414" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000772415" "00001847" "90" "5316" "0" "5316" "0" "c.5316G>A" "r.(?)" "p.(Trp1772*)" "38"
"0000772416" "00001847" "70" "179" "0" "179" "0" "c.179C>T" "r.(?)" "p.(Ala60Val)" "3"
"0000772417" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000772418" "00001847" "70" "1853" "0" "1853" "0" "c.1853G>A" "r.(?)" "p.(Gly618Glu)" "13"
"0000772419" "00001847" "70" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" "35"
"0000772420" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.[(768g>u;768_769ins768+1_768+35)]" "p.(Leu257Valfs*17)" "6"
"0000772421" "00001847" "50" "5908" "0" "5908" "0" "c.5908C>T" "r.(?)" "p.(Leu1970Phe)" "43"
"0000772422" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000772423" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000772424" "00001847" "90" "247" "0" "250" "0" "c.247_250dup" "r.(?)" "p.(Ser84Thrfs*16)" "3"
"0000772425" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000772426" "00001847" "70" "463" "0" "463" "0" "c.463G>A" "r.(?)" "p.(Asp155Asn)" "5"
"0000772427" "00001847" "50" "5413" "0" "5413" "0" "c.5413A>G" "r.(?)" "p.(Asn1805Asp)" "38"
"0000772428" "00001847" "90" "1344" "0" "1344" "0" "c.1344del" "r.(?)" "p.(Met448Ilefs*3)" "10"
"0000772429" "00001847" "90" "4537" "0" "4537" "0" "c.4537dup" "r.(?)" "p.(Gln1513Profs*42)" "30"
"0000772430" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000772431" "00001847" "50" "3462" "0" "3462" "0" "c.3462C>T" "r.(?)" "p.(Gly1154=)" "23"
"0000772432" "00001847" "50" "4685" "0" "4685" "0" "c.4685T>C" "r.(?)" "p.(Ile1562Thr)" "33"
"0000772433" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000772434" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000772435" "00001847" "90" "4193" "0" "4193" "0" "c.4193del" "r.(?)" "p.(Gly1398Alafs*6)" "28"
"0000772436" "00001847" "50" "570" "1815" "570" "1815" "c.570+1815G>C" "r.(?)" "p.(?)" "5i"
"0000772437" "00001847" "70" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" "44"
"0000772438" "00001847" "90" "3261" "0" "3261" "0" "c.3261A>C" "r.(?)" "p.(Glu1087Asp)" "22"
"0000772439" "00001847" "50" "1532" "0" "1532" "0" "c.1532G>A" "r.(?)" "p.(Arg511His)" "11"
"0000772440" "00001847" "50" "455" "0" "455" "0" "c.455G>A" "r.(?)" "p.(Arg152Gln)" "5"
"0000772441" "00001847" "70" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" "31"
"0000772442" "00001847" "70" "511" "0" "511" "0" "c.511A>T" "r.(?)" "p.(Ile171Phe)" "5"
"0000772443" "00001847" "70" "1726" "0" "1726" "0" "c.1726G>C" "r.(?)" "p.(Asp576His)" "12"
"0000772444" "00001847" "70" "3655" "0" "3655" "0" "c.3655G>C" "r.(?)" "p.(Ala1219Pro)" "25"
"0000772445" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000772446" "00001847" "50" "5196" "1159" "5196" "1159" "c.5196+1159G>A" "r.=" "p.(=)" "36i"
"0000772447" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000772448" "00001847" "90" "5460" "1" "5460" "1" "c.5460+1G>A" "r.spl" "p.?" "38i"
"0000772449" "00001847" "50" "514" "0" "514" "0" "c.514G>A" "r.(?)" "p.(Gly172Ser)" "5"
"0000772450" "00001847" "50" "4771" "0" "4771" "0" "c.4771G>A" "r.(?)" "p.(Gly1591Arg)" "33"
"0000772451" "00001847" "50" "4771" "0" "4771" "0" "c.4771G>A" "r.(?)" "p.(Gly1591Arg)" "33"
"0000772452" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000772453" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000772454" "00001847" "50" "667" "0" "667" "0" "c.667A>C" "r.(?)" "p.(Lys223Gln)" "6"
"0000772455" "00001847" "50" "1411" "0" "1411" "0" "c.1411G>A" "r.(?)" "p.(Glu471Lys)" "11"
"0000772456" "00001847" "50" "6148" "0" "6148" "0" "c.6148G>C" "r.=" "p.(Val2050Leu)" "45"
"0000772457" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000772458" "00001847" "90" "3329" "-2" "3329" "-2" "c.3329-2A>G" "r.spl" "p.?" "22i"
"0000772459" "00001847" "50" "1932" "0" "1932" "0" "c.1932C>T" "r.(?)" "p.(Asp644=)" "13"
"0000772460" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000772461" "00001847" "90" "2971" "0" "2971" "0" "c.2971G>C" "r.(?)" "p.(Gly991Arg)" "20"
"0000772462" "00001847" "70" "3262" "0" "3262" "0" "c.3262C>T" "r.(?)" "p.(Pro1088Ser)" "22"
"0000772463" "00001847" "50" "2791" "0" "2791" "0" "c.2791G>A" "r.(?)" "p.(Val931Met)" "19"
"0000772464" "00001847" "90" "5196" "1" "5196" "1" "c.5196+1G>A" "r.spl" "p.?" "36i"
"0000772465" "00001847" "50" "1500" "0" "1500" "0" "c.1500G>A" "r.(?)" "p.(Arg500=)" "11"
"0000772466" "00001847" "50" "6406" "0" "6406" "0" "c.6406C>T" "r.(?)" "p.(Leu2136=)" "47"
"0000772467" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000772468" "00001847" "50" "1411" "0" "1411" "0" "c.1411G>A" "r.(?)" "p.(Glu471Lys)" "11"
"0000772469" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000772470" "00001847" "50" "4685" "0" "4685" "0" "c.4685T>C" "r.(?)" "p.(Ile1562Thr)" "33"
"0000772471" "00001847" "50" "455" "0" "455" "0" "c.455G>A" "r.(?)" "p.(Arg152Gln)" "5"
"0000772472" "00001847" "70" "1610" "0" "1610" "0" "c.1610G>A" "r.(?)" "p.(Arg537His)" "12"
"0000772473" "00001847" "50" "317" "0" "317" "0" "c.317A>T" "r.(?)" "p.(Tyr106Phe)" "4"
"0000772474" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000772475" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000772476" "00001847" "90" "4537" "0" "4537" "0" "c.4537del" "r.(?)" "p.(Gln1513Argfs*13)" "30"
"0000772477" "00001847" "70" "4462" "0" "4462" "0" "c.4462T>C" "r.(?)" "p.(Cys1488Arg)" "30"
"0000772478" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000772479" "00001847" "70" "618" "0" "618" "0" "c.618C>G" "r.(?)" "p.(Ser206Arg)" "6"
"0000772480" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000772481" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000772482" "00001847" "90" "319" "0" "319" "0" "c.319C>T" "r.(?)" "p.(Arg107*)" "4"
"0000772483" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000772484" "00001847" "70" "3364" "0" "3364" "0" "c.3364G>A" "r.(?)" "p.(Glu1122Lys)" "23"
"0000772485" "00001847" "30" "2588" "-12" "2588" "-12" "c.2588-12C>G" "r.=" "p.(=)" "16i"
"0000772486" "00001847" "30" "5307" "0" "5307" "0" "c.5307G>C" "r.(?)" "p.(Leu1769=)" "37"
"0000772487" "00001847" "50" "2701" "0" "2701" "0" "c.2701A>G" "r.(?)" "p.(Thr901Ala)" "18"
"0000772488" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000772489" "00001847" "90" "247" "0" "250" "0" "c.247_250dup" "r.(?)" "p.(Ser84Thrfs*16)" "3"
"0000772490" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000772491" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000772492" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000772493" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000772494" "00001847" "50" "826" "0" "826" "0" "c.826A>G" "r.(?)" "p.(Ile276Val)" "7"
"0000772495" "00001847" "50" "714" "0" "714" "0" "c.714G>A" "r.(?)" "p.(Gln238=)" "6"
"0000772496" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000772497" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000772498" "00001847" "50" "4297" "0" "4297" "0" "c.4297G>A" "r.(?)" "p.(Val1433Ile)" "29"
"0000772499" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000772500" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000772501" "00001847" "50" "3414" "0" "3414" "0" "c.3414C>G" "r.(?)" "p.(Leu1138=)" "23"
"0000772502" "00001847" "50" "2701" "0" "2701" "0" "c.2701A>G" "r.(?)" "p.(Thr901Ala)" "18"
"0000772503" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000772504" "00001847" "30" "596" "0" "596" "0" "c.596C>T" "r.(?)" "p.(Ala199Val)" "6"
"0000772505" "00001847" "70" "6317" "0" "6317" "0" "c.6317G>A" "r.(?)" "p.(Arg2106His)" "46"
"0000772506" "00001847" "90" "2971" "0" "2971" "0" "c.2971G>C" "r.(?)" "p.(Gly991Arg)" "20"
"0000772507" "00001847" "50" "1928" "0" "1928" "0" "c.1928T>G" "r.(?)" "p.(Val643Gly)" "13"
"0000772508" "00001847" "50" "5908" "0" "5908" "0" "c.5908C>T" "r.(?)" "p.(Leu1970Phe)" "43"
"0000772509" "00001847" "70" "4594" "0" "4594" "0" "c.4594G>A" "r.(?)" "p.(Asp1532Asn)" "31"
"0000772510" "00001847" "50" "4685" "0" "4685" "0" "c.4685T>C" "r.(?)" "p.(Ile1562Thr)" "33"
"0000772511" "00001847" "70" "2743" "0" "2743" "0" "c.2743G>A" "r.spl?" "p.(Asp915Asn,?)" "18"
"0000772512" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000772513" "00001847" "70" "286" "0" "286" "0" "c.286A>C" "r.(?)" "p.(Asn96His)" "3"
"0000772514" "00001847" "70" "2267" "0" "2267" "0" "c.2267C>T" "r.(?)" "p.(Ser756Phe)" "15"
"0000772515" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000772516" "00001847" "90" "5898" "1" "5898" "1" "c.5898+1G>A" "r.spl" "p.?" "42i"
"0000772517" "00001847" "70" "911" "0" "911" "0" "c.911T>G" "r.(?)" "p.(Met304Arg)" "8"
"0000772518" "00001847" "50" "6148" "0" "6148" "0" "c.6148G>C" "r.=" "p.(Val2050Leu)" "45"
"0000772519" "00001847" "50" "4140" "0" "4140" "0" "c.4140G>A" "r.(?)" "p.(=)" "28"
"0000772520" "00001847" "50" "667" "0" "667" "0" "c.667A>C" "r.(?)" "p.(Lys223Gln)" "6"
"0000772521" "00001847" "50" "1532" "0" "1532" "0" "c.1532G>A" "r.(?)" "p.(Arg511His)" "11"
"0000772522" "00001847" "50" "6148" "0" "6148" "0" "c.6148G>C" "r.=" "p.(Val2050Leu)" "45"
"0000772523" "00001847" "70" "3364" "0" "3364" "0" "c.3364G>A" "r.(?)" "p.(Glu1122Lys)" "23"
"0000772524" "00001847" "50" "2701" "0" "2701" "0" "c.2701A>G" "r.(?)" "p.(Thr901Ala)" "18"
"0000772525" "00001847" "30" "1818" "0" "1818" "0" "c.1818C>T" "r.(?)" "p.(Gly606=)" "13"
"0000772526" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000772527" "00001847" "70" "1015" "0" "1015" "0" "c.1015T>G" "r.(?)" "p.(Trp339Gly)" "8"
"0000772528" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000772529" "00001847" "90" "735" "0" "735" "0" "c.735T>G" "r.(?)" "p.(Tyr245*)" "6"
"0000772530" "00001847" "50" "4128" "16" "4128" "16" "c.4128+16G>A" "r.(?)" "p.(?)" "27i"
"0000772531" "00001847" "70" "2461" "0" "2461" "0" "c.2461T>A" "r.(?)" "p.(Trp821Arg)" "16"
"0000772532" "00001847" "50" "574" "0" "574" "0" "c.574G>A" "r.(?)" "p.(Ala192Thr)" "6"
"0000772533" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000772534" "00001847" "70" "1817" "0" "1817" "0" "c.1817G>A" "r.(?)" "p.(Gly606Asp)" "13"
"0000772535" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000772536" "00001847" "30" "672" "0" "672" "0" "c.672G>A" "r.(?)" "p.(Thr224=)" "6"
"0000772537" "00001847" "50" "5908" "0" "5908" "0" "c.5908C>T" "r.(?)" "p.(Leu1970Phe)" "43"
"0000772538" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000772539" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000772540" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000772541" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000772542" "00001847" "50" "1029" "0" "1029" "0" "c.1029T>C" "r.(?)" "p.(Asn343=)" "8"
"0000772543" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000772544" "00001847" "70" "6221" "0" "6221" "0" "c.6221G>A" "r.(?)" "p.(Gly2074Asp)" "45"
"0000772545" "00001847" "90" "690" "0" "690" "0" "c.690C>A" "r.(?)" "p.(Cys230*)" "6"
"0000772546" "00001847" "70" "5113" "0" "5113" "0" "c.5113C>T" "r.(?)" "p.(Arg1705Trp)" "36"
"0000772547" "00001847" "70" "6449" "0" "6449" "0" "c.6449G>A" "r.(?)" "p.(Cys2150Tyr)" "47"
"0000772548" "00001847" "70" "1745" "0" "1745" "0" "c.1745A>G" "r.(?)" "p.(Asn582Ser)" "12"
"0000772549" "00001847" "50" "514" "0" "514" "0" "c.514G>A" "r.(?)" "p.(Gly172Ser)" "5"
"0000772550" "00001847" "90" "454" "0" "454" "0" "c.454C>T" "r.(?)" "p.(Arg152*)" "5"
"0000772551" "00001847" "70" "4694" "0" "4694" "0" "c.4694A>G" "r.(?)" "p.(Lys1565Arg)" "33"
"0000772552" "00001847" "50" "1356" "5" "1356" "6" "c.1356+5_1356+6insC" "r.spl?" "p.(?)" "10i"
"0000772553" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000772554" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000772555" "00001847" "50" "455" "0" "455" "0" "c.455G>A" "r.(?)" "p.(Arg152Gln)" "5"
"0000772556" "00001847" "70" "618" "0" "618" "0" "c.618C>G" "r.(?)" "p.(Ser206Arg)" "6"
"0000772557" "00001847" "70" "618" "0" "618" "0" "c.618C>G" "r.(?)" "p.(Ser206Arg)" "6"
"0000772558" "00001847" "50" "6730" "-19" "6730" "-19" "c.6730-19G>A" "r.(?)" "p.(?)" "48i"
"0000772559" "00001847" "50" "5077" "0" "5077" "0" "c.5077G>A" "r.(?)" "p.(Val1693Ile)" "36"
"0000772560" "00001847" "50" "1928" "0" "1928" "0" "c.1928T>G" "r.(?)" "p.(Val643Gly)" "13"
"0000772561" "00001847" "70" "926" "0" "926" "0" "c.926C>G" "r.(?)" "p.(Pro309Arg)" "8"
"0000772562" "00001847" "70" "4919" "0" "4919" "0" "c.4919G>A" "r.(?)" "p.(Arg1640Gln)" "35"
"0000772563" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000772564" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000772565" "00001847" "70" "677" "0" "677" "0" "c.677G>A" "r.(?)" "p.(Arg226His)" "6"
"0000772566" "00001847" "50" "6498" "0" "6498" "0" "c.6498C>T" "r.(?)" "p.(=)" "48"
"0000772567" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000772568" "00001847" "50" "5196" "1159" "5196" "1159" "c.5196+1159G>A" "r.=" "p.(=)" "36i"
"0000772569" "00001847" "70" "3097" "0" "3097" "0" "c.3097A>G" "r.(?)" "p.(Lys1033Glu)" "21"
"0000772570" "00001847" "50" "4557" "0" "4557" "0" "c.4557G>A" "r.(?)" "p.(Thr1519=)" "31"
"0000772571" "00001847" "50" "455" "0" "455" "0" "c.455G>A" "r.(?)" "p.(Arg152Gln)" "5"
"0000772572" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000772573" "00001847" "50" "1654" "0" "1654" "0" "c.1654G>A" "r.(?)" "p.(Val552Ile)" "12"
"0000772574" "00001847" "50" "2354" "0" "2354" "0" "c.2354G>T" "r.(?)" "p.(Arg785Leu)" "15"
"0000772575" "00001847" "50" "769" "-3" "769" "-3" "c.769-3C>T" "r.(?)" "p.(?)" "6i"
"0000772576" "00001847" "50" "4771" "0" "4771" "0" "c.4771G>A" "r.(?)" "p.(Gly1591Arg)" "33"
"0000772577" "00001847" "50" "5693" "0" "5693" "0" "c.5693G>A" "r.(?)" "p.(Arg1898His)" "40"
"0000772578" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000772579" "00001847" "90" "2919" "-1" "3328" "1" "c.(2918+1_2919-1)_(3328+1_3329-1)del" "r.(?)" "p.(Ser974Glnfs*64)" "19i_22i"
"0000772580" "00001847" "50" "33" "0" "33" "0" "c.33C>T" "r.(?)" "p.(Leu11=)" "1"
"0000772581" "00001847" "90" "3191" "-2" "3191" "-2" "c.3191-2A>G" "r.spl" "p.?" "21i"
"0000772582" "00001847" "50" "1029" "0" "1029" "0" "c.1029T>C" "r.(?)" "p.(Asn343=)" "8"
"0000772583" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000772584" "00001847" "50" "4466" "0" "4466" "0" "c.4466G>A" "r.(?)" "p.(Arg1489Lys)" "30"
"0000772585" "00001847" "90" "834" "0" "834" "0" "c.834del" "r.(?)" "p.(Asp279Ilefs*21)" "7"
"0000772586" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000772587" "00001847" "50" "6148" "0" "6148" "0" "c.6148G>C" "r.=" "p.(Val2050Leu)" "45"
"0000772588" "00001847" "70" "4539" "2001" "4539" "2001" "c.4539+2001G>A" "r.[=,4539_4540ins4539+1891_4540-2162]" "p.[=,Arg1514Leufs*36]" "30i"
"0000772589" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000772590" "00001847" "50" "6718" "0" "6718" "0" "c.6718A>G" "r.(?)" "p.(Thr2240Ala)" "48"
"0000772591" "00001847" "50" "466" "0" "466" "0" "c.466A>G" "r.(?)" "p.(Ile156Val)" "5"
"0000772592" "00001847" "70" "6086" "0" "6086" "0" "c.6086G>T" "r.(?)" "p.(Gly2029Val)" "44"
"0000772593" "00001847" "50" "4771" "0" "4771" "0" "c.4771G>A" "r.(?)" "p.(Gly1591Arg)" "33"
"0000772594" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000772595" "00001847" "90" "454" "0" "454" "0" "c.454C>T" "r.(?)" "p.(Arg152*)" "5"
"0000772596" "00001847" "70" "2453" "0" "2453" "0" "c.2453G>A" "r.(?)" "p.(Gly818Glu)" "16"
"0000772597" "00001847" "50" "1654" "0" "1654" "0" "c.1654G>A" "r.(?)" "p.(Val552Ile)" "12"
"0000772598" "00001847" "50" "2690" "0" "2690" "0" "c.2690C>T" "r.(?)" "p.(Thr897Ile)" "18"
"0000772599" "00001847" "70" "5329" "0" "5329" "0" "c.5329A>T" "r.(?)" "p.(Met1777Leu)" "38"
"0000772600" "00001847" "50" "3755" "0" "3755" "0" "c.3755A>T" "r.(?)" "p.(Glu1252Val)" "25"
"0000772601" "00001847" "70" "3608" "0" "3608" "0" "c.3608G>A" "r.[3608g>a,3608_3813del]" "p.[Gly1203Glu,Gly1203Aspfs*10]" "25"
"0000772602" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000772603" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000772604" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000772605" "00001847" "30" "596" "0" "596" "0" "c.596C>T" "r.(?)" "p.(Ala199Val)" "6"
"0000772606" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000772607" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000772608" "00001847" "50" "2701" "0" "2701" "0" "c.2701A>G" "r.(?)" "p.(Thr901Ala)" "18"
"0000772609" "00001847" "50" "6498" "0" "6498" "0" "c.6498C>T" "r.(?)" "p.(=)" "48"
"0000772610" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000772611" "00001847" "50" "5908" "0" "5908" "0" "c.5908C>T" "r.(?)" "p.(Leu1970Phe)" "43"
"0000772612" "00001847" "50" "564" "0" "564" "0" "c.564A>C" "r.(?)" "p.(Pro188=)" "5"
"0000772613" "00001847" "50" "1636" "0" "1636" "0" "c.1636A>C" "r.(?)" "p.(Met546Leu)" "12"
"0000772614" "00001847" "50" "6148" "0" "6148" "0" "c.6148G>C" "r.=" "p.(Val2050Leu)" "45"
"0000772615" "00001847" "50" "2931" "0" "2931" "0" "c.2931G>A" "r.(?)" "p.(Thr977=)" "20"
"0000772616" "00001847" "70" "1805" "0" "1805" "0" "c.1805G>A" "r.(?)" "p.(Arg602Gln)" "13"
"0000772617" "00001847" "90" "2971" "0" "2971" "0" "c.2971G>C" "r.(?)" "p.(Gly991Arg)" "20"
"0000772618" "00001847" "30" "1653" "0" "1653" "0" "c.1653G>A" "r.(?)" "p.(Val551=)" "12"
"0000772619" "00001847" "70" "2453" "0" "2453" "0" "c.2453G>A" "r.(?)" "p.(Gly818Glu)" "16"
"0000772620" "00001847" "70" "3670" "0" "3670" "0" "c.3670T>G" "r.(?)" "p.(Cys1224Gly)" "25"
"0000772621" "00001847" "50" "4297" "0" "4297" "0" "c.4297G>A" "r.(?)" "p.(Val1433Ile)" "29"
"0000772622" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000772623" "00001847" "70" "3840" "0" "3845" "0" "c.3840_3845del" "r.(?)" "p.(Asp1281_Ser1282del)" "26"
"0000772624" "00001847" "50" "1029" "0" "1029" "0" "c.1029T>C" "r.(?)" "p.(Asn343=)" "8"
"0000772625" "00001847" "50" "4578" "0" "4578" "0" "c.4578G>A" "r.(?)" "p.(Thr1526=)" "31"
"0000772626" "00001847" "90" "3259" "0" "3259" "0" "c.3259G>A" "r.(?)" "p.(Glu1087Lys)" "22"
"0000772627" "00001847" "50" "1029" "0" "1029" "0" "c.1029T>C" "r.(?)" "p.(Asn343=)" "8"
"0000772628" "00001847" "70" "4793" "0" "4793" "0" "c.4793C>A" "r.(?)" "p.(Ala1598Asp)" "34"
"0000772629" "00001847" "70" "772" "0" "772" "0" "c.772C>T" "r.(?)" "p.(Pro258Ser)" "7"
"0000772630" "00001847" "90" "2971" "0" "2971" "0" "c.2971G>C" "r.(?)" "p.(Gly991Arg)" "20"
"0000772631" "00001847" "70" "3840" "0" "3845" "0" "c.3840_3845del" "r.(?)" "p.(Asp1281_Ser1282del)" "26"
"0000772632" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000772633" "00001847" "50" "455" "0" "455" "0" "c.455G>A" "r.(?)" "p.(Arg152Gln)" "5"
"0000772634" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000772635" "00001847" "50" "4771" "0" "4771" "0" "c.4771G>A" "r.(?)" "p.(Gly1591Arg)" "33"
"0000772636" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000772637" "00001847" "30" "4611" "0" "4611" "0" "c.4611G>A" "r.(?)" "p.(Thr1537=)" "31"
"0000772638" "00001847" "50" "2127" "0" "2127" "0" "c.2127G>A" "r.(?)" "p.(Ser709=)" "14"
"0000772639" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000772640" "00001847" "50" "4771" "0" "4771" "0" "c.4771G>A" "r.(?)" "p.(Gly1591Arg)" "33"
"0000772641" "00001847" "90" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071Cysfs*14)" "22"
"0000772642" "00001847" "70" "6221" "0" "6221" "0" "c.6221G>T" "r.(?)" "p.(Gly2074Val)" "45"
"0000772643" "00001847" "90" "1714" "0" "1714" "0" "c.1714C>T" "r.(?)" "p.(Arg572*)" "12"
"0000772644" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000772645" "00001847" "90" "3328" "1" "3328" "1" "c.3328+1G>A" "r.spl" "p.?" "22i"
"0000772646" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000772647" "00001847" "70" "6748" "0" "6748" "0" "c.6748A>G" "r.(?)" "p.(Lys2250Glu)" "49"
"0000772648" "00001847" "70" "161" "0" "161" "0" "c.161G>A" "r.[161_302del,161g>a]" "p.[Cys54Serfs*14,Cys54Tyr]" "3"
"0000772649" "00001847" "50" "6148" "0" "6148" "0" "c.6148G>C" "r.=" "p.(Val2050Leu)" "45"
"0000772650" "00001847" "90" "3328" "2" "3328" "2" "c.3328+2T>A" "r.spl" "p.?" "22i"
"0000772651" "00001847" "50" "466" "0" "466" "0" "c.466A>G" "r.(?)" "p.(Ile156Val)" "5"
"0000772652" "00001847" "50" "1928" "0" "1928" "0" "c.1928T>G" "r.(?)" "p.(Val643Gly)" "13"
"0000772653" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000772654" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000772655" "00001847" "50" "1500" "0" "1500" "0" "c.1500G>A" "r.(?)" "p.(Arg500=)" "11"
"0000772656" "00001847" "70" "4556" "0" "4556" "0" "c.4556C>T" "r.(?)" "p.(Thr1519Met)" "31"
"0000772657" "00001847" "50" "3213" "0" "3213" "0" "c.3213G>A" "r.(?)" "p.(Ser1071=)" "22"
"0000772658" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000772659" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000772660" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000772661" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000772662" "00001847" "70" "1015" "0" "1015" "0" "c.1015T>G" "r.(?)" "p.(Trp339Gly)" "8"
"0000772663" "00001847" "90" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071Cysfs*14)" "22"
"0000772664" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000772665" "00001847" "50" "1654" "0" "1654" "0" "c.1654G>A" "r.(?)" "p.(Val552Ile)" "12"
"0000772666" "00001847" "50" "1029" "0" "1029" "0" "c.1029T>C" "r.(?)" "p.(Asn343=)" "8"
"0000772667" "00001847" "50" "5312" "8" "5312" "8" "c.5312+8G>A" "r.(?)" "p.(?)" "37i"
"0000772668" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000772669" "00001847" "50" "455" "0" "455" "0" "c.455G>A" "r.(?)" "p.(Arg152Gln)" "5"
"0000772670" "00001847" "70" "71" "0" "71" "0" "c.71G>A" "r.(?)" "p.(Arg24Cys)" "2"
"0000772671" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000772672" "00001847" "70" "3385" "0" "3385" "0" "c.3385C>T" "r.(?)" "p.(Arg1129Cys)" "23"
"0000772673" "00001847" "70" "1648" "0" "1648" "0" "c.1648G>A" "r.(?)" "p.(Gly550Arg)" "12"
"0000772674" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000772675" "00001847" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408*)" "9"
"0000772676" "00001847" "50" "4771" "0" "4771" "0" "c.4771G>A" "r.(?)" "p.(Gly1591Arg)" "33"
"0000772677" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000772678" "00001847" "70" "6221" "0" "6221" "0" "c.6221G>T" "r.(?)" "p.(Gly2074Val)" "45"
"0000772679" "00001847" "90" "1988" "0" "1988" "0" "c.1988G>A" "r.(?)" "p.(Trp663*)" "14"
"0000772680" "00001847" "50" "4771" "0" "4771" "0" "c.4771G>A" "r.(?)" "p.(Gly1591Arg)" "33"
"0000772681" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000772682" "00001847" "70" "161" "0" "161" "0" "c.161G>A" "r.[161_302del,161g>a]" "p.[Cys54Serfs*14,Cys54Tyr]" "3"
"0000772683" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.[(768g>u;768_769ins768+1_768+35)]" "p.(Leu257Valfs*17)" "6"
"0000772684" "00001847" "50" "1928" "0" "1928" "0" "c.1928T>G" "r.(?)" "p.(Val643Gly)" "13"
"0000772685" "00001847" "90" "5899" "-2" "5899" "-2" "c.5899-2del" "r.(?)" "p.(?)" "42i"
"0000772686" "00001847" "50" "5413" "0" "5413" "0" "c.5413A>G" "r.(?)" "p.(Asn1805Asp)" "38"
"0000772687" "00001847" "70" "286" "0" "286" "0" "c.286A>T" "r.(?)" "p.(Asn96Tyr)" "3"
"0000772688" "00001847" "70" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" "31"
"0000772689" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000772690" "00001847" "70" "4462" "0" "4462" "0" "c.4462T>C" "r.(?)" "p.(Cys1488Arg)" "30"
"0000772691" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000772692" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000772693" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000772694" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000772695" "00001847" "50" "5231" "0" "5231" "0" "c.5231G>A" "r.(?)" "p.(Gly1744Asp)" "37"
"0000772696" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000772697" "00001847" "50" "-92" "0" "-92" "0" "c.-92C>T" "r.(?)" "p.(?)" "1"
"0000772698" "00001847" "90" "2971" "0" "2971" "0" "c.2971G>C" "r.(?)" "p.(Gly991Arg)" "20"
"0000772699" "00001847" "50" "184" "0" "184" "0" "c.184C>T" "r.(?)" "p.(Pro62Ser)" "3"
"0000772700" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000772701" "00001847" "70" "6112" "0" "6112" "0" "c.6112C>T" "r.(?)" "p.(Arg2038Trp)" "44"
"0000772702" "00001847" "90" "6005" "1" "6005" "1" "c.6005+1G>A" "r.spl" "p.?" "43i"
"0000772703" "00001847" "70" "1538" "0" "1538" "0" "c.1538T>C" "r.(?)" "p.(Val513Ala)" "11"
"0000772704" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000772705" "00001847" "70" "1919" "0" "1919" "0" "c.1919C>T" "r.(?)" "p.(Pro640Leu)" "13"
"0000772706" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000772707" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000772708" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000772709" "00001847" "70" "1015" "0" "1015" "0" "c.1015T>G" "r.(?)" "p.(Trp339Gly)" "8"
"0000772710" "00001847" "90" "5196" "1" "5196" "1" "c.5196+1G>A" "r.spl" "p.?" "36i"
"0000772711" "00001847" "90" "2041" "0" "2041" "0" "c.2041C>T" "r.(?)" "p.(Arg681*)" "14"
"0000772712" "00001847" "70" "214" "0" "214" "0" "c.214G>A" "r.(?)" "p.(Gly72Arg)" "3"
"0000772713" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000772714" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000772715" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000772716" "00001847" "10" "3602" "0" "3602" "0" "c.3602T>G" "r.(?)" "p.(Leu1201Arg)" "24"
"0000772717" "00001847" "70" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" "44"
"0000772718" "00001847" "70" "4925" "0" "4925" "0" "c.4925G>T" "r.(?)" "p.(Ser1462Ile)" "35"
"0000772719" "00001847" "70" "4463" "0" "4463" "0" "c.4463G>T" "r.(?)" "p.(Cys1488Phe)" "30"
"0000772720" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000772721" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000772722" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000772723" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000772724" "00001847" "10" "3602" "0" "3602" "0" "c.3602T>G" "r.(?)" "p.(Leu1201Arg)" "24"
"0000772725" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000772726" "00001847" "70" "4594" "0" "4594" "0" "c.4594G>A" "r.(?)" "p.(Asp1532Asn)" "31"
"0000772727" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000772728" "00001847" "50" "4407" "0" "4407" "0" "c.4407C>T" "r.(?)" "p.(Asn1469=)" "30"
"0000772729" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000772730" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000772731" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000772732" "00001847" "70" "161" "0" "161" "0" "c.161G>A" "r.[161_302del,161g>a]" "p.[Cys54Serfs*14,Cys54Tyr]" "3"
"0000772733" "00001847" "70" "161" "0" "161" "0" "c.161G>A" "r.[161_302del,161g>a]" "p.[Cys54Serfs*14,Cys54Tyr]" "3"
"0000772734" "00001847" "70" "4661" "0" "4661" "0" "c.4661A>G" "r.(?)" "p.(Glu1554Gly)" "32"
"0000772735" "00001847" "90" "4383" "0" "4383" "0" "c.4383G>A" "r.(?)" "p.(Trp1461*)" "30"
"0000772736" "00001847" "70" "4661" "0" "4661" "0" "c.4661A>G" "r.(?)" "p.(Glu1554Gly)" "32"
"0000772737" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000772738" "00001847" "70" "1663" "0" "1663" "0" "c.1663G>A" "r.(?)" "p.(Asp555Asn)" "12"
"0000772739" "00001847" "70" "3385" "0" "3385" "0" "c.3385C>T" "r.(?)" "p.(Arg1129Cys)" "23"
"0000772740" "00001847" "70" "3385" "0" "3385" "0" "c.3385C>T" "r.(?)" "p.(Arg1129Cys)" "23"
"0000772741" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000772742" "00001847" "90" "2966" "0" "2966" "0" "c.2966T>C" "r.(?)" "p.(Val989Ala)" "20"
"0000772743" "00001847" "70" "161" "0" "161" "0" "c.161G>A" "r.[161_302del,161g>a]" "p.[Cys54Serfs*14,Cys54Tyr]" "3"
"0000772744" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000772745" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.[(768g>u;768_769ins768+1_768+35)]" "p.(Leu257Valfs*17)" "6"
"0000772746" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000772747" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000772748" "00001847" "70" "3364" "0" "3364" "0" "c.3364G>A" "r.(?)" "p.(Glu1122Lys)" "23"
"0000772749" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000772750" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000772751" "00001847" "70" "5137" "0" "5137" "0" "c.5137C>A" "r.(?)" "p.(Gln1713Lys)" "36"
"0000772752" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000772753" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000772754" "00001847" "90" "108" "0" "108" "0" "c.108del" "r.(?)" "p.(Leu37Trpfs*3)" "2"
"0000772755" "00001847" "50" "1928" "0" "1928" "0" "c.1928T>G" "r.(?)" "p.(Val643Gly)" "13"
"0000772756" "00001847" "70" "3279" "0" "3279" "0" "c.3279C>A" "r.(?)" "p.(Asp1093Glu)" "22"
"0000772757" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000772758" "00001847" "50" "5836" "-11" "5836" "-11" "c.5836-11G>A" "r.(?)" "p.(?)" "41i"
"0000772759" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000772760" "00001847" "70" "1610" "0" "1610" "0" "c.1610G>A" "r.(?)" "p.(Arg537His)" "12"
"0000772761" "00001847" "70" "6449" "0" "6449" "0" "c.6449G>A" "r.(?)" "p.(Cys2150Tyr)" "47"
"0000772762" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000772763" "00001847" "90" "3871" "0" "3871" "0" "c.3871C>T" "r.(?)" "p.(Gln1291*)" "27"
"0000772764" "00001847" "70" "4222" "0" "4222" "0" "c.4222T>C" "r.(?)" "p.(Trp1408Arg)" "28"
"0000772765" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000772766" "00001847" "70" "2267" "0" "2267" "0" "c.2267C>T" "r.(?)" "p.(Ser756Phe)" "15"
"0000772767" "00001847" "70" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" "35"
"0000772768" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000772769" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000772770" "00001847" "90" "5175" "0" "5175" "0" "c.5175dup" "r.(?)" "p.(Thr1726Aspfs*61)" "36"
"0000772771" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000772772" "00001847" "70" "1927" "0" "1927" "0" "c.1927G>A" "r.(?)" "p.(Val643Met)" "13"
"0000772773" "00001847" "90" "1937" "1" "1937" "1" "c.1937+1G>A" "r.spl" "p.?" "13i"
"0000772774" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000772775" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000772776" "00001847" "70" "3050" "5" "3050" "5" "c.3050+5G>A" "r.2919_3050del" "p.(Leu973_His1017delinsPhe)" "20i"
"0000772777" "00001847" "70" "2300" "0" "2300" "0" "c.2300T>A" "r.(?)" "p.(Val767Asp)" "15"
"0000772778" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000772779" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000772780" "00001847" "90" "2966" "0" "2966" "0" "c.2966T>C" "r.(?)" "p.(Val989Ala)" "20"
"0000772781" "00001847" "70" "3184" "0" "3184" "0" "c.3184C>A" "r.(?)" "p.(Leu1062Ile)" "21"
"0000772782" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000772783" "00001847" "90" "4537" "0" "4537" "0" "c.4537dup" "r.(?)" "p.(Gln1513Profs*42)" "30"
"0000772784" "00001847" "70" "4222" "0" "4222" "0" "c.4222T>C" "r.(?)" "p.(Trp1408Arg)" "28"
"0000772785" "00001847" "70" "1927" "0" "1927" "0" "c.1927G>A" "r.(?)" "p.(Val643Met)" "13"
"0000772786" "00001847" "70" "5584" "6" "5584" "6" "c.5584+6T>C" "r.[5461_5714del,5461_5584del,5585_5714]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13,Glu1863Leufs*33]" "39i"
"0000772787" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.[(768g>u;768_769ins768+1_768+35)]" "p.(Leu257Valfs*17)" "6"
"0000772788" "00001847" "70" "1715" "0" "1715" "0" "c.1715G>A" "r.(?)" "p.(Arg572Gln)" "12"
"0000772789" "00001847" "70" "6317" "0" "6317" "0" "c.6317G>A" "r.(?)" "p.(Arg2106His)" "46"
"0000772790" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000772791" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000772792" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000772793" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000772794" "00001847" "50" "455" "0" "455" "0" "c.455G>A" "r.(?)" "p.(Arg152Gln)" "5"
"0000772795" "00001847" "70" "4070" "0" "4070" "0" "c.4070C>T" "r.(?)" "p.(Ala1357Val)" "27"
"0000772796" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000772797" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000772798" "00001847" "90" "3051" "-1" "3051" "-1" "c.3051-1G>A" "r.spl" "p.?" "20i"
"0000772799" "00001847" "70" "161" "0" "161" "0" "c.161G>A" "r.[161_302del,161g>a]" "p.[Cys54Serfs*14,Cys54Tyr]" "3"
"0000772800" "00001847" "90" "5899" "-2" "5899" "-2" "c.5899-2del" "r.(?)" "p.(?)" "42i"
"0000772801" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000772802" "00001847" "50" "2042" "0" "2042" "0" "c.2042G>A" "r.(?)" "p.(Arg681Gln)" "14"
"0000772803" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000772804" "00001847" "70" "69" "0" "69" "0" "c.69T>G" "r.spl?" "p.(Ile23Met)" "2"
"0000772805" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000772806" "00001847" "70" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" "31"
"0000772807" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.[(768g>u;768_769ins768+1_768+35)]" "p.(Leu257Valfs*17)" "6"
"0000772808" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000772809" "00001847" "30" "4203" "0" "4203" "0" "c.4203C>A" "r.(?)" "p.(=)" "28"
"0000772810" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000772811" "00001847" "90" "247" "0" "250" "0" "c.247_250dup" "r.(?)" "p.(Ser84Thrfs*16)" "3"
"0000772812" "00001847" "90" "4666" "0" "4666" "0" "c.4666del" "r.(?)" "p.(Arg1556Glyfs*25)" "32"
"0000772813" "00001847" "90" "1281" "0" "1282" "0" "c.1281_1282insN[17]" "r.(?)" "p.(Val428Lysfs*13)" "10"
"0000772814" "00001847" "50" "6119" "0" "6119" "0" "c.6119G>A" "r.(?)" "p.(Arg2040Gln)" "44"
"0000772815" "00001847" "70" "559" "0" "559" "0" "c.559C>T" "r.(?)" "p.(Arg187Cys)" "5"
"0000772816" "00001847" "70" "286" "0" "286" "0" "c.286A>C" "r.(?)" "p.(Asn96His)" "3"
"0000772817" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000772818" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000772819" "00001847" "70" "3194" "0" "3194" "0" "c.3194G>A" "r.(?)" "p.(Gly1065Asp)" "22"
"0000772820" "00001847" "90" "1988" "0" "1988" "0" "c.1988G>A" "r.(?)" "p.(Trp663*)" "14"
"0000772821" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000772822" "00001847" "70" "6086" "0" "6086" "0" "c.6086G>T" "r.(?)" "p.(Gly2029Val)" "44"
"0000772823" "00001847" "50" "160" "5" "160" "5" "c.160+5G>A" "r.(?)" "p.(?)" "2i"
"0000772824" "00001847" "70" "3335" "0" "3335" "0" "c.3335C>A" "r.(?)" "p.(Thr1112Asn)" "23"
"0000772825" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000772826" "00001847" "70" "5110" "0" "5110" "0" "c.5110G>A" "r.(?)" "p.(Glu1704Lys)" "36"
"0000772827" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000772828" "00001847" "70" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" "31"
"0000772829" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000772830" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000772831" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000772832" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000772833" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000772834" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000772835" "00001847" "50" "1240" "-8" "1240" "-8" "c.1240-8G>C" "r.(?)" "p.(?)" "9i"
"0000772836" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000772837" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000772838" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000772839" "00001847" "90" "2971" "0" "2971" "0" "c.2971G>C" "r.(?)" "p.(Gly991Arg)" "20"
"0000772840" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000772841" "00001847" "70" "3407" "0" "3407" "0" "c.3407G>A" "r.(?)" "p.(Gly1136Glu)" "23"
"0000772842" "00001847" "90" "6181" "0" "6184" "0" "c.6181_6184del" "r.(?)" "p.(Thr2061Serfs*53)" "45"
"0000772843" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.[(768g>u;768_769ins768+1_768+35)]" "p.(Leu257Valfs*17)" "6"
"0000772844" "00001847" "90" "6319" "0" "6319" "0" "c.6319C>T" "r.(?)" "p.(Arg2107Cys)" "46"
"0000772845" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000772846" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000772847" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000772848" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000772849" "00001847" "70" "4169" "0" "4169" "0" "c.4169T>C" "r.(?)" "p.(Leu1390Pro)" "28"
"0000772850" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000772851" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000772852" "00001847" "50" "3863" "-14" "3863" "-14" "c.3863-14A>G" "r.(?)" "p.(?)" "26i"
"0000772853" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000772854" "00001847" "70" "3279" "0" "3279" "0" "c.3279C>A" "r.(?)" "p.(Asp1093Glu)" "22"
"0000772855" "00001847" "70" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" "35"
"0000772856" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000772857" "00001847" "90" "6419" "0" "6419" "0" "c.6419T>A" "r.(?)" "p.(Leu2140Gln)" "47"
"0000772858" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000772859" "00001847" "70" "70" "0" "70" "0" "c.70C>T" "r.(?)" "p.[IIe23IIefs*30,=]" "2"
"0000772860" "00001847" "90" "913" "0" "913" "0" "c.913C>T" "r.(?)" "p.(Gln305*)" "8"
"0000772861" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000772862" "00001847" "70" "95" "0" "95" "0" "c.95C>T" "r.(?)" "p.(Pro32Leu)" "2"
"0000772863" "00001847" "70" "6449" "0" "6449" "0" "c.6449G>A" "r.(?)" "p.(Cys2150Tyr)" "47"
"0000772864" "00001847" "70" "5482" "0" "5482" "0" "c.5482G>A" "r.(?)" "p.(Val1828Met)" "39"
"0000772865" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000772866" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000772867" "00001847" "70" "4457" "0" "4457" "0" "c.4457C>T" "r.(?)" "p.(Pro1486Leu)" "30"
"0000772868" "00001847" "70" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" "31"
"0000772869" "00001847" "70" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" "44"
"0000772870" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000772871" "00001847" "70" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" "31"
"0000772872" "00001847" "70" "194" "0" "194" "0" "c.194G>A" "r.(?)" "p.(Gly65Glu)" "3"
"0000772873" "00001847" "50" "4909" "0" "4909" "0" "c.4909G>A" "r.(?)" "p.(Ala1637Thr)" "35"
"0000772874" "00001847" "70" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" "44"
"0000772875" "00001847" "50" "1933" "0" "1933" "0" "c.1933G>A" "r.(?)" "p.(Asp645Asn)" "13"
"0000772876" "00001847" "70" "2915" "0" "2915" "0" "c.2915C>A" "r.(?)" "p.(Thr972Asn)" "19"
"0000772877" "00001847" "70" "6732" "0" "6732" "0" "c.6732G>A" "r.spl" "p.(Val2244=)" "49"
"0000772878" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000772879" "00001847" "90" "666" "0" "678" "0" "c.666_678del" "r.(?)" "p.(Lys223Metfs*14)" "6"
"0000772880" "00001847" "70" "3017" "0" "3017" "0" "c.3017G>T" "r.(?)" "p.(Gly1006Val)" "20"
"0000772881" "00001847" "90" "4216" "0" "4216" "0" "c.4216del" "r.(?)" "p.(His1406Thrfs*30)" "28"
"0000772882" "00001847" "70" "5196" "3" "5196" "6" "c.5196+3_5196+6del" "r.4849_5196del" "p.(Val1617_Ile1732del)" "36i"
"0000772883" "00001847" "70" "3379" "0" "3379" "0" "c.3379G>A" "r.(?)" "p.(Gly1127Arg)" "23"
"0000772884" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.[(768g>u;768_769ins768+1_768+35)]" "p.(Leu257Valfs*17)" "6"
"0000772885" "00001847" "90" "2005" "0" "2006" "0" "c.2005_2006del" "r.(?)" "p.(Met669Aspfs*96)" "14"
"0000772886" "00001847" "70" "5318" "0" "5318" "0" "c.5318C>T" "r.(?)" "p.(Ala1773Val)" "38"
"0000772887" "00001847" "70" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" "31"
"0000772888" "00001847" "90" "666" "0" "678" "0" "c.666_678del" "r.(?)" "p.(Lys223Metfs*14)" "6"
"0000772889" "00001847" "90" "666" "0" "678" "0" "c.666_678del" "r.(?)" "p.(Lys223Metfs*14)" "6"
"0000772890" "00001847" "10" "3602" "0" "3602" "0" "c.3602T>G" "r.(?)" "p.(Leu1201Arg)" "24"
"0000772891" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000772892" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000772893" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000772894" "00001847" "70" "161" "0" "161" "0" "c.161G>A" "r.[161_302del,161g>a]" "p.[Cys54Serfs*14,Cys54Tyr]" "3"
"0000772895" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000772896" "00001847" "70" "161" "0" "161" "0" "c.161G>A" "r.[161_302del,161g>a]" "p.[Cys54Serfs*14,Cys54Tyr]" "3"
"0000772897" "00001847" "70" "161" "0" "161" "0" "c.161G>A" "r.[161_302del,161g>a]" "p.[Cys54Serfs*14,Cys54Tyr]" "3"
"0000772898" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000772899" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000772900" "00001847" "70" "4919" "0" "4919" "0" "c.4919G>A" "r.(?)" "p.(Arg1640Gln)" "35"
"0000772901" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000772902" "00001847" "70" "4793" "0" "4793" "0" "c.4793C>A" "r.(?)" "p.(Ala1598Asp)" "34"
"0000772903" "00001847" "90" "5637" "0" "5637" "0" "c.5637del" "r.(?)" "p.(Phe1880Leufs*13)" "40"
"0000772904" "00001847" "50" "5459" "0" "5459" "0" "c.5459G>C" "r.(?)" "p.(Arg1820Pro)" "38"
"0000772905" "00001847" "90" "4667" "1" "4667" "1" "c.4667+1G>C" "r.spl" "p.?" "32i"
"0000772906" "00001847" "90" "4537" "0" "4537" "0" "c.4537dup" "r.(?)" "p.(Gln1513Profs*42)" "30"
"0000772907" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000772908" "00001847" "70" "2249" "0" "2249" "0" "c.2249T>C" "r.(?)" "p.(Leu750Pro)" "15"
"0000772909" "00001847" "70" "1927" "0" "1927" "0" "c.1927G>A" "r.(?)" "p.(Val643Met)" "13"
"0000772910" "00001847" "90" "3056" "0" "3056" "0" "c.3056C>T" "r.(?)" "p.(Thr1019Met)" "21"
"0000772911" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.[(768g>u;768_769ins768+1_768+35)]" "p.(Leu257Valfs*17)" "6"
"0000772912" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000772913" "00001847" "70" "203" "0" "203" "0" "c.203C>G" "r.(?)" "p.(Pro68Arg)" "3"
"0000772914" "00001847" "10" "3602" "0" "3602" "0" "c.3602T>G" "r.(?)" "p.(Leu1201Arg)" "24"
"0000772915" "00001847" "70" "5460" "4" "5460" "4" "c.5460+4A>G" "r.(spl)" "p.?" "38i"
"0000772916" "00001847" "90" "5018" "2" "5018" "2" "c.5018+2T>C" "r.spl" "p.?" "35i"
"0000772917" "00001847" "90" "2382" "1" "2382" "1" "c.2382+1G>A" "r.spl" "p.?" "15i"
"0000772918" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000772919" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000772920" "00001847" "70" "911" "0" "911" "0" "c.911T>G" "r.(?)" "p.(Met304Arg)" "8"
"0000772921" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000772922" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000772923" "00001847" "70" "2353" "0" "2353" "0" "c.2353C>T" "r.(?)" "p.(Arg785Cys)" "15"
"0000772924" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000772925" "00001847" "70" "3050" "5" "3050" "5" "c.3050+5G>A" "r.2919_3050del" "p.(Leu973_His1017delinsPhe)" "20i"
"0000772926" "00001847" "50" "667" "0" "667" "0" "c.667A>C" "r.(?)" "p.(Lys223Gln)" "6"
"0000772927" "00001847" "50" "5395" "0" "5395" "0" "c.5395A>G" "r.(?)" "p.(Asn1799Asp)" "38"
"0000772928" "00001847" "50" "1155" "0" "1155" "0" "c.1155C>T" "r.(?)" "p.(Ile385=)" "9"
"0000772929" "00001847" "50" "1356" "5" "1356" "6" "c.1356+5_1356+6insC" "r.spl?" "p.(?)" "10i"
"0000772930" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.[(768g>u;768_769ins768+1_768+35)]" "p.(Leu257Valfs*17)" "6"
"0000772931" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000772932" "00001847" "70" "4919" "0" "4919" "0" "c.4919G>A" "r.(?)" "p.(Arg1640Gln)" "35"
"0000772933" "00001847" "70" "3547" "0" "3547" "0" "c.3547G>T" "r.(?)" "p.(Gly1183Cys)" "24"
"0000772934" "00001847" "70" "3364" "0" "3364" "0" "c.3364G>A" "r.(?)" "p.(Glu1122Lys)" "23"
"0000772935" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000772936" "00001847" "70" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" "31"
"0000772937" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000772938" "00001847" "70" "1156" "0" "1156" "0" "c.1156G>A" "r.(?)" "p.(Ala386Thr)" "9"
"0000772939" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000772940" "00001847" "70" "5044" "0" "5058" "0" "c.5044_5058del" "r.(?)" "p.(Val1682_Val1686del)" "36"
"0000772941" "00001847" "70" "4773" "3" "4773" "3" "c.4773+3A>G" "r.[4668_4773del,=]" "p.[Tyr1557Alafs*18,=]" "33i"
"0000772942" "00001847" "70" "4223" "0" "4223" "0" "c.4223G>T" "r.(?)" "p.(Trp1408Leu)" "28"
"0000772943" "00001847" "50" "4771" "0" "4771" "0" "c.4771G>A" "r.(?)" "p.(Gly1591Arg)" "33"
"0000772944" "00001847" "50" "4954" "0" "4954" "0" "c.4954T>G" "r.(?)" "p.(Tyr1652Asp)" "35"
"0000772945" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000772946" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000772947" "00001847" "90" "2564" "0" "2564" "0" "c.2564G>A" "r.(?)" "p.(Trp855*)" "16"
"0000772948" "00001847" "70" "4253" "4" "4253" "4" "c.4253+4C>T" "r.4129_4253del" "p.(Ile1377Hisfs*3)" "28i"
"0000772949" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000772950" "00001847" "70" "4253" "4" "4253" "4" "c.4253+4C>T" "r.4129_4253del" "p.(Ile1377Hisfs*3)" "28i"
"0000772951" "00001847" "70" "4463" "0" "4463" "0" "c.4463G>A" "r.(?)" "p.(Cys1488Tyr)" "30"
"0000772952" "00001847" "70" "6694" "0" "6694" "0" "c.6694G>A" "r.(?)" "p.(Glu2232Lys)" "48"
"0000772953" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000772954" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000772955" "00001847" "70" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" "31"
"0000772956" "00001847" "70" "1610" "0" "1610" "0" "c.1610G>A" "r.(?)" "p.(Arg537His)" "12"
"0000772957" "00001847" "50" "4685" "0" "4685" "0" "c.4685T>C" "r.(?)" "p.(Ile1562Thr)" "33"
"0000772958" "00001847" "70" "3344" "0" "3344" "0" "c.3344T>C" "r.(?)" "p.(Met1115Thr)" "23"
"0000772959" "00001847" "90" "2971" "0" "2971" "0" "c.2971G>C" "r.(?)" "p.(Gly991Arg)" "20"
"0000772960" "00001847" "70" "3364" "0" "3364" "0" "c.3364G>A" "r.(?)" "p.(Glu1122Lys)" "23"
"0000772961" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000772962" "00001847" "70" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" "35"
"0000772963" "00001847" "70" "4643" "0" "4643" "0" "c.4643G>A" "r.(?)" "p.(Ser1548Asn)" "32"
"0000772964" "00001847" "90" "6215" "0" "6226" "0" "c.6215_6226dup" "r.(?)" "p.(Ser2072_Asn2075dup)" "45"
"0000772965" "00001847" "90" "470" "0" "470" "0" "c.470T>A" "r.(?)" "p.(Leu157*)" "5"
"0000772966" "00001847" "70" "4919" "0" "4919" "0" "c.4919G>A" "r.(?)" "p.(Arg1640Gln)" "35"
"0000772967" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000772968" "00001847" "50" "656" "0" "656" "0" "c.656G>C" "r.(?)" "p.(Arg219Thr)" "6"
"0000772969" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000772970" "00001847" "70" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" "44"
"0000772971" "00001847" "70" "6383" "0" "6383" "0" "c.6383A>G" "r.(?)" "p.(His2128Arg)" "46"
"0000772972" "00001847" "50" "1692" "0" "1692" "0" "c.1692A>G" "r.(?)" "p.(Pro564=)" "12"
"0000772973" "00001847" "50" "2690" "0" "2690" "0" "c.2690C>T" "r.(?)" "p.(Thr897Ile)" "18"
"0000772974" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000772975" "00001847" "70" "5618" "0" "5618" "0" "c.5618A>G" "r.(?)" "p.(Asp1873Gly)" "40"
"0000772976" "00001847" "70" "1253" "0" "1253" "0" "c.1253T>C" "r.(?)" "p.(Phe418Ser)" "10"
"0000772977" "00001847" "70" "294" "0" "294" "0" "c.294C>G" "r.(?)" "p.(Asn98Lys)" "3"
"0000772978" "00001847" "90" "42" "0" "48" "0" "c.42_48delinsAG" "r.(?)" "p.(Asn14Lysfs*38)" "1"
"0000772979" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000772980" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000772981" "00001847" "90" "5018" "2" "5018" "2" "c.5018+2T>C" "r.spl" "p.?" "35i"
"0000772982" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000772983" "00001847" "90" "4126" "0" "4126" "0" "c.4126C>T" "r.(?)" "p.(Gln1376*)" "27"
"0000772984" "00001847" "70" "4919" "0" "4919" "0" "c.4919G>A" "r.(?)" "p.(Arg1640Gln)" "35"
"0000772985" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000772986" "00001847" "70" "4873" "0" "4873" "0" "c.4873C>G" "r.(?)" "p.(His1625Asp)" "35"
"0000772987" "00001847" "50" "4685" "0" "4685" "0" "c.4685T>C" "r.(?)" "p.(Ile1562Thr)" "33"
"0000772988" "00001847" "50" "4771" "0" "4771" "0" "c.4771G>A" "r.(?)" "p.(Gly1591Arg)" "33"
"0000772989" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000772990" "00001847" "70" "214" "0" "214" "0" "c.214G>A" "r.(?)" "p.(Gly72Arg)" "3"
"0000772991" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000772992" "00001847" "70" "3364" "0" "3364" "0" "c.3364G>A" "r.(?)" "p.(Glu1122Lys)" "23"
"0000772993" "00001847" "90" "6118" "0" "6118" "0" "c.6118C>T" "r.(?)" "p.(Arg2040*)" "44"
"0000772994" "00001847" "70" "4462" "0" "4462" "0" "c.4462T>C" "r.(?)" "p.(Cys1488Arg)" "30"
"0000772995" "00001847" "90" "454" "0" "454" "0" "c.454C>T" "r.(?)" "p.(Arg152*)" "5"
"0000772996" "00001847" "70" "4979" "0" "4979" "0" "c.4979C>T" "r.(?)" "p.(Pro1660Leu)" "35"
"0000772997" "00001847" "90" "2564" "0" "2564" "0" "c.2564G>A" "r.(?)" "p.(Trp855*)" "16"
"0000772998" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000772999" "00001847" "70" "6732" "0" "6732" "0" "c.6732G>A" "r.spl" "p.(Val2244=)" "49"
"0000773000" "00001847" "90" "6238" "0" "6239" "0" "c.6238_6239del" "r.(?)" "p.(Ser2080Hisfs*16)" "45"
"0000773001" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000773002" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000773003" "00001847" "70" "4402" "0" "4402" "0" "c.4402C>G" "r.(?)" "p.(Pro1498Ala)" "30"
"0000773004" "00001847" "90" "913" "0" "913" "0" "c.913C>T" "r.(?)" "p.(Gln305*)" "8"
"0000773005" "00001847" "90" "2971" "0" "2971" "0" "c.2971G>C" "r.(?)" "p.(Gly991Arg)" "20"
"0000773006" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000773007" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000773008" "00001847" "50" "2852" "0" "2852" "0" "c.2852T>C" "r.(?)" "p.(Ile951Thr)" "19"
"0000773009" "00001847" "70" "1161" "0" "1161" "0" "c.1161G>A" "r.(?)" "p.(Trp387*)" "9"
"0000773010" "00001847" "50" "141" "0" "141" "0" "c.141G>A" "r.(?)" "p.(Pro47=)" "2"
"0000773011" "00001847" "90" "5371" "0" "5371" "0" "c.5371dup" "r.(?)" "p.(Ala1791Glyfs*9)" "38"
"0000773012" "00001847" "90" "4710" "0" "4710" "0" "c.4710del" "r.(?)" "p.(Ile1571Serfs*10)" "33"
"0000773013" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.[(768g>u;768_769ins768+1_768+35)]" "p.(Leu257Valfs*17)" "6"
"0000773014" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000773015" "00001847" "50" "1792" "0" "1792" "0" "c.1792G>A" "r.(?)" "p.(Val598Met)" "13"
"0000773016" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000773017" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000773018" "00001847" "90" "1819" "0" "1819" "0" "c.1819G>A" "r.(?)" "p.(Gly607Arg)" "13"
"0000773019" "00001847" "90" "564" "0" "564" "0" "c.564del" "r.(?)" "p.(Glu189Serfs*12)" "5"
"0000773020" "00001847" "70" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" "35"
"0000773021" "00001847" "70" "6449" "0" "6449" "0" "c.6449G>A" "r.(?)" "p.(Cys2150Tyr)" "47"
"0000773022" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000773023" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000773024" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000773025" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000773026" "00001847" "50" "2546" "0" "2546" "0" "c.2546T>C" "r.(?)" "p.(Val849Ala)" "16"
"0000773027" "00001847" "70" "194" "0" "194" "0" "c.194G>A" "r.(?)" "p.(Gly65Glu)" "3"
"0000773028" "00001847" "70" "6221" "0" "6221" "0" "c.6221G>T" "r.(?)" "p.(Gly2074Val)" "45"
"0000773029" "00001847" "70" "4594" "0" "4594" "0" "c.4594G>A" "r.(?)" "p.(Asp1532Asn)" "31"
"0000773030" "00001847" "70" "4773" "3" "4773" "3" "c.4773+3A>G" "r.[4668_4773del,=]" "p.[Tyr1557Alafs*18,=]" "33i"
"0000773031" "00001847" "70" "286" "0" "286" "0" "c.286A>C" "r.(?)" "p.(Asn96His)" "3"
"0000773032" "00001847" "70" "2566" "0" "2566" "0" "c.2566T>A" "r.(?)" "p.(Tyr856Asn)" "16"
"0000773033" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000773034" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000773035" "00001847" "70" "4873" "0" "4873" "0" "c.4873C>T" "r.(?)" "p.(His1625Tyr)" "35"
"0000773036" "00001847" "90" "4612" "0" "4625" "0" "c.4612_4625del" "r.(?)" "p.(Tyr1538Lysfs*12)" "31"
"0000773037" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000773038" "00001847" "70" "4253" "5" "4253" "5" "c.4253+5G>T" "r.[4129_4253del,=]" "p.[Ile1377Hisfs*3,=]" "28i"
"0000773039" "00001847" "70" "4594" "0" "4594" "0" "c.4594G>A" "r.(?)" "p.(Asp1532Asn)" "31"
"0000773040" "00001847" "90" "3328" "0" "3328" "1" "c.3328_3328+1delinsAA" "r.(?)" "p.(?)" "22_22i"
"0000773041" "00001847" "70" "6112" "0" "6112" "0" "c.6112C>T" "r.(?)" "p.(Arg2038Trp)" "44"
"0000773042" "00001847" "90" "6189" "0" "6189" "0" "c.6189C>A" "r.(?)" "p.(Tyr2063*)" "45"
"0000773043" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000773044" "00001847" "50" "4195" "0" "4195" "0" "c.4195G>A" "r.(?)" "p.(Glu1399Lys)" "28"
"0000773045" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000773046" "00001847" "70" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.[=,5196_5197ins5196+1140_5196+1212]" "p.[=,Met1733Glufs*78]" "36i"
"0000773047" "00001847" "90" "6286" "0" "6286" "0" "c.6286G>A" "r.(?)" "p.(Glu2096Lys)" "46"
"0000773048" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000773049" "00001847" "70" "286" "0" "286" "0" "c.286A>C" "r.(?)" "p.(Asn96His)" "3"
"0000773050" "00001847" "50" "6119" "0" "6119" "0" "c.6119G>A" "r.(?)" "p.(Arg2040Gln)" "44"
"0000773051" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000773052" "00001847" "70" "1357" "0" "1357" "0" "c.1357G>T" "r.(?)" "p.(Asp453Tyr,?)" "11"
"0000773053" "00001847" "70" "2743" "0" "2743" "0" "c.2743G>A" "r.spl?" "p.(Asp915Asn,?)" "18"
"0000773054" "00001847" "70" "5318" "0" "5318" "0" "c.5318C>T" "r.(?)" "p.(Ala1773Val)" "38"
"0000773055" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000773056" "00001847" "90" "4634" "1" "4634" "1" "c.4634+1G>T" "r.spl" "p.?" "31i"
"0000773057" "00001847" "50" "5206" "0" "5206" "0" "c.5206T>C" "r.(?)" "p.(Ser1736Pro)" "37"
"0000773058" "00001847" "90" "6386" "2" "6386" "2" "c.6386+2C>G" "r.(?)" "p.(?)" "46i"
"0000773059" "00001847" "70" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" "31"
"0000773060" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000773061" "00001847" "90" "6445" "0" "6445" "0" "c.6445C>T" "r.(?)" "p.(Arg2149*)" "47"
"0000773062" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000773063" "00001847" "90" "302" "1" "302" "1" "c.302+1G>A" "r.spl" "p.?" "3i"
"0000773064" "00001847" "70" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" "35"
"0000773065" "00001847" "70" "6112" "0" "6112" "0" "c.6112C>T" "r.(?)" "p.(Arg2038Trp)" "44"
"0000773066" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000773067" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000773068" "00001847" "70" "1015" "0" "1015" "0" "c.1015T>G" "r.(?)" "p.(Trp339Gly)" "8"
"0000773069" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000773070" "00001847" "90" "6386" "1" "6386" "1" "c.6386+1G>A" "r.spl" "p.?" "46i"
"0000773071" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000773072" "00001847" "90" "3754" "0" "3754" "0" "c.3754G>T" "r.(?)" "p.(Glu1252*)" "25"
"0000773073" "00001847" "90" "655" "0" "655" "0" "c.655A>T" "r.(?)" "p.(Arg219*)" "6"
"0000773074" "00001847" "70" "214" "0" "214" "0" "c.214G>A" "r.(?)" "p.(Gly72Arg)" "3"
"0000773075" "00001847" "10" "3899" "0" "3899" "0" "c.3899G>A" "r.(?)" "p.(Arg1300Gln)" "27"
"0000773076" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000773077" "00001847" "70" "4594" "0" "4594" "0" "c.4594G>A" "r.(?)" "p.(Asp1532Asn)" "31"
"0000773078" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000773079" "00001847" "90" "4537" "0" "4537" "0" "c.4537dup" "r.(?)" "p.(Gln1513Profs*42)" "30"
"0000773080" "00001847" "90" "4849" "-1" "4849" "-1" "c.4849-1G>A" "r.spl" "p.?" "34i"
"0000773081" "00001847" "10" "3602" "0" "3602" "0" "c.3602T>G" "r.(?)" "p.(Leu1201Arg)" "24"
"0000773082" "00001847" "90" "3898" "0" "3898" "0" "c.3898C>T" "r.(?)" "p.(Arg1300*)" "27"
"0000773083" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000773084" "00001847" "90" "2575" "0" "2575" "0" "c.2575C>T" "r.(?)" "p.(Gln859*)" "16"
"0000773085" "00001847" "90" "67" "-1" "67" "-1" "c.67-1G>C" "r.spl" "p.?" "1i"
"0000773086" "00001847" "70" "6729" "5" "6729" "19" "c.6729+5_6729+19del" "r.6480_6729del" "p.(Phe2161Cysfs*3)" "48i"
"0000773087" "00001847" "90" "6386" "2" "6386" "2" "c.6386+2C>G" "r.(?)" "p.(?)" "46i"
"0000773088" "00001847" "70" "1510" "0" "1510" "0" "c.1510A>C" "r.(?)" "p.(Asn504His)" "11"
"0000773089" "00001847" "70" "6221" "0" "6221" "0" "c.6221G>A" "r.(?)" "p.(Gly2074Asp)" "45"
"0000773090" "00001847" "70" "161" "0" "161" "0" "c.161G>A" "r.[161_302del,161g>a]" "p.[Cys54Serfs*14,Cys54Tyr]" "3"
"0000773091" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000773092" "00001847" "70" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" "35"
"0000773093" "00001847" "50" "4685" "0" "4685" "0" "c.4685T>C" "r.(?)" "p.(Ile1562Thr)" "33"
"0000773094" "00001847" "70" "4457" "0" "4457" "0" "c.4457C>T" "r.(?)" "p.(Pro1486Leu)" "30"
"0000773095" "00001847" "70" "1783" "0" "1783" "0" "c.1783G>A" "r.(?)" "p.(Ala595Thr)" "13"
"0000773096" "00001847" "90" "2041" "0" "2041" "0" "c.2041C>T" "r.(?)" "p.(Arg681*)" "14"
"0000773097" "00001847" "70" "1610" "0" "1610" "0" "c.1610G>A" "r.(?)" "p.(Arg537His)" "12"
"0000773098" "00001847" "90" "564" "0" "564" "0" "c.564del" "r.(?)" "p.(Glu189Serfs*12)" "5"
"0000773099" "00001847" "90" "2041" "0" "2041" "0" "c.2041C>T" "r.(?)" "p.(Arg681*)" "14"
"0000773100" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000773101" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000773102" "00001847" "70" "2779" "0" "2779" "0" "c.2779C>T" "r.(?)" "p.(Pro927Ser)" "19"
"0000773103" "00001847" "70" "3730" "0" "3730" "0" "c.3730G>A" "r.(?)" "p.(Ala1244Thr)" "25"
"0000773104" "00001847" "70" "4417" "0" "4417" "0" "c.4417C>A" "r.(?)" "p.(Leu1473Met)" "30"
"0000773105" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000773106" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000773107" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000773108" "00001847" "70" "3995" "0" "4018" "0" "c.3995_4018dup" "r.(?)" "p.(Gln1332_Cys1339dup)" "27"
"0000773109" "00001847" "90" "4537" "0" "4537" "0" "c.4537dup" "r.(?)" "p.(Gln1513Profs*42)" "30"
"0000773110" "00001847" "70" "4222" "0" "4222" "0" "c.4222T>C" "r.(?)" "p.(Trp1408Arg)" "28"
"0000773111" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000773112" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000773113" "00001847" "90" "2041" "0" "2041" "0" "c.2041C>T" "r.(?)" "p.(Arg681*)" "14"
"0000773114" "00001847" "90" "3403" "0" "3403" "0" "c.3403C>T" "r.(?)" "p.(Gln1135*)" "23"
"0000773115" "00001847" "90" "3329" "-2" "3329" "-2" "c.3329-2A>G" "r.spl" "p.?" "22i"
"0000773116" "00001847" "70" "294" "0" "294" "0" "c.294C>G" "r.(?)" "p.(Asn98Lys)" "3"
"0000773117" "00001847" "50" "6270" "0" "6270" "0" "c.6270G>A" "r.(?)" "p.(Pro2090=)" "45"
"0000773118" "00001847" "70" "5318" "0" "5318" "0" "c.5318C>T" "r.(?)" "p.(Ala1773Val)" "38"
"0000773119" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000773120" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000773121" "00001847" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408*)" "9"
"0000773122" "00001847" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408*)" "9"
"0000773123" "00001847" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408*)" "9"
"0000773124" "00001847" "70" "3260" "0" "3260" "0" "c.3260A>G" "r.(?)" "p.(Glu1087Gly)" "22"
"0000773125" "00001847" "90" "4537" "0" "4537" "0" "c.4537dup" "r.(?)" "p.(Gln1513Profs*42)" "30"
"0000773126" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000773127" "00001847" "70" "3041" "0" "3041" "0" "c.3041T>G" "r.(?)" "p.(Leu1014Arg)" "20"
"0000773128" "00001847" "50" "2401" "0" "2401" "0" "c.2401G>A" "r.(?)" "p.(Ala801Thr)" "16"
"0000773129" "00001847" "70" "2869" "0" "2869" "0" "c.2869C>A" "r.(?)" "p.(Gln957Lys)" "19"
"0000773130" "00001847" "70" "1805" "0" "1805" "0" "c.1805G>A" "r.(?)" "p.(Arg602Gln)" "13"
"0000773131" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000773132" "00001847" "90" "6386" "2" "6386" "2" "c.6386+2C>G" "r.(?)" "p.(?)" "46i"
"0000773133" "00001847" "70" "2863" "0" "2863" "0" "c.2863G>A" "r.(?)" "P.(Glu955Lys)" "19"
"0000773134" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000773135" "00001847" "50" "5836" "-11" "5836" "-11" "c.5836-11G>A" "r.(?)" "p.(?)" "41i"
"0000773136" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000773137" "00001847" "50" "4685" "0" "4685" "0" "c.4685T>C" "r.(?)" "p.(Ile1562Thr)" "33"
"0000773138" "00001847" "90" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071Cysfs*14)" "22"
"0000773139" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000773140" "00001847" "70" "1610" "0" "1610" "0" "c.1610G>A" "r.(?)" "p.(Arg537His)" "12"
"0000773141" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000773142" "00001847" "50" "868" "0" "868" "0" "c.868C>T" "r.(?)" "p.(Arg290Trp)" "8"
"0000773143" "00001847" "70" "3051" "-35" "3051" "-17" "c.3051-35_3051-17del" "r.spl?" "p.(?)" "20i"
"0000773144" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000773145" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000773146" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000773147" "00001847" "70" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" "44"
"0000773148" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000773149" "00001847" "70" "4222" "0" "4222" "0" "c.4222T>C" "r.(?)" "p.(Trp1408Arg)" "28"
"0000773150" "00001847" "90" "3259" "0" "3259" "0" "c.3259G>A" "r.(?)" "p.(Glu1087Lys)" "22"
"0000773151" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000773152" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000773153" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000773154" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000773155" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000773156" "00001847" "50" "2791" "0" "2791" "0" "c.2791G>A" "r.(?)" "p.(Val931Met)" "19"
"0000773157" "00001847" "50" "5186" "0" "5186" "0" "c.5186T>C" "r.(?)" "p.(Leu1729Pro)" "36"
"0000773158" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000773159" "00001847" "50" "6721" "0" "6721" "0" "c.6721C>G" "r.(?)" "p.(Leu2241Val)" "48"
"0000773160" "00001847" "70" "4363" "0" "4363" "0" "c.4363T>C" "r.(?)" "p.(Cys1455Arg)" "30"
"0000773161" "00001847" "70" "370" "0" "370" "0" "c.370C>T" "r.(?)" "p.(Arg124Cys)" "4"
"0000773162" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000773163" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000773164" "00001847" "90" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071Cysfs*14)" "22"
"0000773165" "00001847" "30" "4203" "0" "4203" "0" "c.4203C>A" "r.(?)" "p.(=)" "28"
"0000773166" "00001847" "70" "3236" "0" "3236" "0" "c.3236A>T" "r.(?)" "p.(Asp1079Val)" "22"
"0000773167" "00001847" "50" "5836" "-11" "5836" "-11" "c.5836-11G>A" "r.(?)" "p.(?)" "41i"
"0000773168" "00001847" "90" "3056" "0" "3056" "0" "c.3056C>T" "r.(?)" "p.(Thr1019Met)" "21"
"0000773169" "00001847" "90" "3259" "0" "3259" "0" "c.3259G>A" "r.(?)" "p.(Glu1087Lys)" "22"
"0000773170" "00001847" "10" "3602" "0" "3602" "0" "c.3602T>G" "r.(?)" "p.(Leu1201Arg)" "24"
"0000773171" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000773172" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000773173" "00001847" "50" "733" "0" "733" "0" "c.733T>C" "r.(?)" "p.(Tyr245His)" "6"
"0000773174" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000773175" "00001847" "70" "926" "0" "926" "0" "c.926C>G" "r.(?)" "p.(Pro309Arg)" "8"
"0000773176" "00001847" "70" "4222" "0" "4222" "0" "c.4222T>C" "r.(?)" "p.(Trp1408Arg)" "28"
"0000773177" "00001847" "70" "203" "0" "203" "0" "c.203C>G" "r.(?)" "p.(Pro68Arg)" "3"
"0000773178" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000773179" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000773180" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000773181" "00001847" "10" "3899" "0" "3899" "0" "c.3899G>A" "r.(?)" "p.(Arg1300Gln)" "27"
"0000773182" "00001847" "90" "4537" "0" "4537" "0" "c.4537dup" "r.(?)" "p.(Gln1513Profs*42)" "30"
"0000773183" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000773184" "00001847" "70" "1529" "0" "1529" "0" "c.1529T>C" "r.(?)" "p.(Leu510Pro)" "11"
"0000773185" "00001847" "70" "2912" "0" "2912" "0" "c.2912C>A" "r.(?)" "p.(Thr971Asn)" "19"
"0000773186" "00001847" "70" "6221" "0" "6221" "0" "c.6221G>T" "r.(?)" "p.(Gly2074Val)" "45"
"0000773187" "00001847" "90" "1937" "1" "1937" "1" "c.1937+1G>A" "r.spl" "p.?" "13i"
"0000773188" "00001847" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408*)" "9"
"0000773189" "00001847" "50" "5836" "-11" "5836" "-11" "c.5836-11G>A" "r.(?)" "p.(?)" "41i"
"0000773190" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000773191" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000773192" "00001847" "70" "203" "0" "203" "0" "c.203C>G" "r.(?)" "p.(Pro68Arg)" "3"
"0000773193" "00001847" "70" "4059" "0" "4059" "0" "c.4059G>C" "r.(?)" "p.(Gln1353His)" "27"
"0000773194" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.[(768g>u;768_769ins768+1_768+35)]" "p.(Leu257Valfs*17)" "6"
"0000773195" "00001847" "70" "618" "0" "618" "0" "c.618C>G" "r.(?)" "p.(Ser206Arg)" "6"
"0000773196" "00001847" "70" "6306" "0" "6306" "0" "c.6306C>A" "r.(?)" "p.(Asp2102Glu)" "46"
"0000773197" "00001847" "70" "1927" "0" "1927" "0" "c.1927G>A" "r.(?)" "p.(Val643Met)" "13"
"0000773198" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000773199" "00001847" "70" "2453" "0" "2453" "0" "c.2453G>A" "r.(?)" "p.(Gly818Glu)" "16"
"0000773200" "00001847" "90" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071Cysfs*14)" "22"
"0000773201" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000773202" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000773203" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000773204" "00001847" "50" "4225" "0" "4225" "0" "c.4225A>G" "r.(?)" "p.(Ile1409Val)" "28"
"0000773205" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000773206" "00001847" "70" "4919" "0" "4919" "0" "c.4919G>A" "r.(?)" "p.(Arg1640Gln)" "35"
"0000773207" "00001847" "90" "1317" "0" "1317" "0" "c.1317G>A" "r.(?)" "p.(Trp439*)" "10"
"0000773208" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000773209" "00001847" "70" "817" "0" "817" "0" "c.817T>C" "r.(?)" "p.(Trp273Arg)" "7"
"0000773210" "00001847" "50" "2023" "0" "2023" "0" "c.2023G>A" "r.(?)" "p.(Val675Ile)" "14"
"0000773211" "00001847" "50" "4771" "0" "4771" "0" "c.4771G>A" "r.(?)" "p.(Gly1591Arg)" "33"
"0000773212" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000773213" "00001847" "70" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" "31"
"0000773214" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000773215" "00001847" "50" "5585" "-10" "5585" "-10" "c.5585-10T>C" "r.=" "p.(=)" "39i"
"0000773216" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000773217" "00001847" "90" "2966" "0" "2966" "0" "c.2966T>C" "r.(?)" "p.(Val989Ala)" "20"
"0000773218" "00001847" "50" "4297" "0" "4297" "0" "c.4297G>A" "r.(?)" "p.(Val1433Ile)" "29"
"0000773219" "00001847" "70" "6449" "0" "6449" "0" "c.6449G>A" "r.(?)" "p.(Cys2150Tyr)" "47"
"0000773220" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000773221" "00001847" "70" "1244" "0" "1244" "0" "c.1244A>G" "r.(?)" "p.(Asn415Ser)" "10"
"0000773222" "00001847" "90" "3994" "0" "3994" "0" "c.3994C>T" "r.(?)" "p.(Gln1332*)" "27"
"0000773223" "00001847" "90" "2041" "0" "2041" "0" "c.2041C>T" "r.(?)" "p.(Arg681*)" "14"
"0000773224" "00001847" "90" "2713" "0" "2713" "0" "c.2713del" "r.(?)" "p.(Glu905Argfs*27)" "18"
"0000773225" "00001847" "90" "2713" "0" "2713" "0" "c.2713del" "r.(?)" "p.(Glu905Argfs*27)" "18"
"0000773226" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000773227" "00001847" "50" "2042" "0" "2042" "0" "c.2042G>A" "r.(?)" "p.(Arg681Gln)" "14"
"0000773228" "00001847" "90" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071Cysfs*14)" "22"
"0000773229" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000773230" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000773231" "00001847" "50" "4926" "0" "4926" "0" "c.4926C>G" "r.(?)" "p.(Ser1642Arg)" "35"
"0000773232" "00001847" "50" "4926" "0" "4926" "0" "c.4926C>G" "r.(?)" "p.(Ser1642Arg)" "35"
"0000773233" "00001847" "70" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.[=,5196_5197ins5196+1140_5196+1212]" "p.[=,Met1733Glufs*78]" "36i"
"0000773234" "00001847" "70" "6229" "0" "6229" "0" "c.6229C>T" "r.(?)" "p.(Arg2077Trp)" "45"
"0000773235" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000773236" "00001847" "10" "3602" "0" "3602" "0" "c.3602T>G" "r.(?)" "p.(Leu1201Arg)" "24"
"0000773237" "00001847" "70" "2827" "0" "2827" "0" "c.2827C>T" "r.(?)" "p.(Arg943Trp)" "19"
"0000773238" "00001847" "90" "5778" "0" "5779" "0" "c.5778_5779del" "r.(?)" "p.(Arg1927Asnfs*7)" "41"
"0000773239" "00001847" "70" "6732" "0" "6732" "0" "c.6732G>A" "r.spl" "p.(Val2244=)" "49"
"0000773240" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000773241" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000773242" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000773243" "00001847" "90" "4234" "0" "4234" "0" "c.4234C>T" "r.(?)" "p.(Gln1412*)" "28"
"0000773244" "00001847" "70" "4504" "0" "4504" "0" "c.4504T>G" "r.(?)" "p.(Cys1502Gly)" "30"
"0000773245" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000773246" "00001847" "90" "5169" "0" "5169" "0" "c.5169C>G" "r.(?)" "p.(Tyr1723*)" "36"
"0000773247" "00001847" "90" "4537" "0" "4537" "0" "c.4537dup" "r.(?)" "p.(Gln1513Profs*42)" "30"
"0000773248" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000773249" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000773250" "00001847" "50" "1037" "0" "1037" "0" "c.1037A>C" "r.(?)" "p.(Lys346Thr)" "8"
"0000773251" "00001847" "50" "4926" "0" "4926" "0" "c.4926C>G" "r.(?)" "p.(Ser1642Arg)" "35"
"0000773252" "00001847" "70" "4793" "0" "4793" "0" "c.4793C>A" "r.(?)" "p.(Ala1598Asp)" "34"
"0000773253" "00001847" "70" "6822" "0" "6822" "0" "c.6822A>C" "r.(?)" "p.(*2275Cysext*34)" "50"
"0000773254" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000773255" "00001847" "70" "4925" "0" "4925" "0" "c.4925G>T" "r.(?)" "p.(Ser1462Ile)" "35"
"0000773256" "00001847" "70" "6077" "0" "6077" "0" "c.6077T>C" "r.(?)" "p.(Leu2026Pro)" "44"
"0000773257" "00001847" "30" "6730" "-3" "6730" "-3" "c.6730-3T>C" "r.(?)" "p.(?)" "48i"
"0000773258" "00001847" "70" "91" "0" "91" "0" "c.91T>C" "r.(?)" "p.(Trp31Arg)" "2"
"0000773259" "00001847" "70" "859" "-9" "859" "-9" "c.859-9T>C" "r.[=,859_1356del]" "p.[=,Phe287_Arg452del]" "7i"
"0000773260" "00001847" "50" "2546" "0" "2546" "0" "c.2546T>C" "r.(?)" "p.(Val849Ala)" "16"
"0000773261" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000773262" "00001847" "70" "1015" "0" "1015" "0" "c.1015T>G" "r.(?)" "p.(Trp339Gly)" "8"
"0000773263" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000773264" "00001847" "50" "667" "0" "667" "0" "c.667A>C" "r.(?)" "p.(Lys223Gln)" "6"
"0000773265" "00001847" "70" "1610" "0" "1610" "0" "c.1610G>A" "r.(?)" "p.(Arg537His)" "12"
"0000773266" "00001847" "70" "4610" "0" "4610" "0" "c.4610C>T" "r.(?)" "p.(Thr1537Met)" "31"
"0000773267" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000773268" "00001847" "70" "6732" "0" "6732" "0" "c.6732G>A" "r.spl" "p.(Val2244=)" "49"
"0000773269" "00001847" "50" "4685" "0" "4685" "0" "c.4685T>C" "r.(?)" "p.(Ile1562Thr)" "33"
"0000773270" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000773271" "00001847" "70" "3670" "0" "3670" "0" "c.3670T>G" "r.(?)" "p.(Cys1224Gly)" "25"
"0000773272" "00001847" "70" "3364" "0" "3364" "0" "c.3364G>A" "r.(?)" "p.(Glu1122Lys)" "23"
"0000773273" "00001847" "30" "6730" "-3" "6730" "-3" "c.6730-3T>C" "r.(?)" "p.(?)" "48i"
"0000773274" "00001847" "70" "4594" "0" "4594" "0" "c.4594G>A" "r.(?)" "p.(Asp1532Asn)" "31"
"0000773275" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000773276" "00001847" "70" "3097" "0" "3097" "0" "c.3097A>G" "r.(?)" "p.(Lys1033Glu)" "21"
"0000773277" "00001847" "90" "1344" "0" "1344" "0" "c.1344del" "r.(?)" "p.(Met448Ilefs*3)" "10"
"0000773278" "00001847" "90" "478" "0" "478" "0" "c.478G>T" "r.(?)" "p.(Glu160*)" "5"
"0000773279" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000773280" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000773281" "00001847" "90" "3292" "0" "3292" "0" "c.3292C>T" "r.(?)" "p.(Arg1098Cys)" "22"
"0000773282" "00001847" "90" "664" "0" "664" "0" "c.664del" "r.(?)" "p.(Ala222Glnfs*19)" "6"
"0000773283" "00001847" "70" "6732" "0" "6732" "0" "c.6732G>A" "r.spl" "p.(Val2244=)" "49"
"0000773284" "00001847" "90" "6316" "0" "6316" "0" "c.6316C>T" "r.(?)" "p.(Arg2106Cys)" "46"
"0000773285" "00001847" "50" "5822" "0" "5822" "0" "c.5822A>C" "r.(?)" "p.(His1941Pro)" "41"
"0000773286" "00001847" "70" "1919" "0" "1919" "0" "c.1919C>T" "r.(?)" "p.(Pro640Leu)" "13"
"0000773287" "00001847" "90" "5822" "0" "5822" "0" "c.5822del" "r.(?)" "p.(His1941Leufs*3)" "41"
"0000773288" "00001847" "50" "4326" "0" "4326" "0" "c.4326C>A" "r.(?)" "p.(Asn1442Lys)" "29"
"0000773289" "00001847" "90" "666" "0" "678" "0" "c.666_678del" "r.(?)" "p.(Lys223Metfs*14)" "6"
"0000773290" "00001847" "50" "5056" "0" "5056" "0" "c.5056G>A" "r.(?)" "p.(Val1686Met)" "36"
"0000773291" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000773292" "00001847" "30" "4203" "0" "4203" "0" "c.4203C>A" "r.(?)" "p.(=)" "28"
"0000773293" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000773294" "00001847" "50" "141" "0" "141" "0" "c.141G>A" "r.(?)" "p.(Pro47=)" "2"
"0000773295" "00001847" "70" "5572" "0" "5572" "0" "c.5572T>A" "r.(?)" "p.(Tyr1858Asn)" "39"
"0000773296" "00001847" "70" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" "31"
"0000773297" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000773298" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000773299" "00001847" "70" "6095" "0" "6095" "0" "c.6095A>G" "r.(?)" "p.(His2032Arg)" "44"
"0000773300" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000773301" "00001847" "90" "564" "0" "564" "0" "c.564del" "r.(?)" "p.(Glu189Serfs*12)" "5"
"0000773302" "00001847" "70" "5646" "0" "5646" "0" "c.5646G>A" "r.(?)" "p.(Met1882Ile)" "40"
"0000773303" "00001847" "50" "4446" "0" "4446" "0" "c.4446C>A" "r.(?)" "p.(Val1482=)" "30"
"0000773304" "00001847" "70" "6006" "-16" "6006" "-16" "c.6006-16G>A" "r.spl?" "p.(?)" "43i"
"0000773305" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000773306" "00001847" "70" "2948" "0" "2948" "0" "c.2948C>T" "r.(?)" "p.(Thr983Ile)" "20"
"0000773307" "00001847" "50" "2546" "0" "2546" "0" "c.2546T>C" "r.(?)" "p.(Val849Ala)" "16"
"0000773308" "00001847" "50" "2023" "0" "2023" "0" "c.2023G>A" "r.(?)" "p.(Val675Ile)" "14"
"0000773309" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000773310" "00001847" "90" "4537" "0" "4537" "0" "c.4537dup" "r.(?)" "p.(Gln1513Profs*42)" "30"
"0000773311" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000773312" "00001847" "30" "6730" "-3" "6730" "-3" "c.6730-3T>C" "r.(?)" "p.(?)" "48i"
"0000773313" "00001847" "90" "1644" "0" "1644" "0" "c.1644G>A" "r.(?)" "p.(Trp548*)" "12"
"0000773314" "00001847" "70" "428" "0" "428" "0" "c.428C>T" "r.(?)" "p.(Pro143Leu)" "4"
"0000773315" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000773316" "00001847" "50" "4771" "0" "4771" "0" "c.4771G>A" "r.(?)" "p.(Gly1591Arg)" "33"
"0000773317" "00001847" "70" "2300" "0" "2300" "0" "c.2300T>A" "r.(?)" "p.(Val767Asp)" "15"
"0000773318" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000773319" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000773320" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000773321" "00001847" "70" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" "31"
"0000773322" "00001847" "70" "3395" "0" "3395" "0" "c.3395T>C" "r.(?)" "p.(Ile1132Thr)" "23"
"0000773323" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000773324" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000773325" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000773326" "00001847" "50" "3758" "0" "3758" "0" "c.3758C>T" "r.(?)" "p.(Thr1253Met)" "25"
"0000773327" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000773328" "00001847" "90" "1317" "0" "1317" "0" "c.1317G>A" "r.(?)" "p.(Trp439*)" "10"
"0000773329" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000773330" "00001847" "90" "4537" "0" "4537" "0" "c.4537dup" "r.(?)" "p.(Gln1513Profs*42)" "30"
"0000773331" "00001847" "50" "2546" "0" "2546" "0" "c.2546T>C" "r.(?)" "p.(Val849Ala)" "16"
"0000773332" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000773333" "00001847" "90" "2041" "0" "2041" "0" "c.2041C>T" "r.(?)" "p.(Arg681*)" "14"
"0000773334" "00001847" "70" "3385" "0" "3385" "0" "c.3385C>T" "r.(?)" "p.(Arg1129Cys)" "23"
"0000773335" "00001847" "70" "1529" "0" "1529" "0" "c.1529T>C" "r.(?)" "p.(Leu510Pro)" "11"
"0000773336" "00001847" "70" "2385" "0" "2385" "0" "c.2385C>G" "r.(?)" "p.(Ser795Arg)" "16"
"0000773337" "00001847" "90" "302" "1" "302" "1" "c.302+1G>A" "r.spl" "p.?" "3i"
"0000773338" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000773339" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000773340" "00001847" "70" "161" "0" "161" "0" "c.161G>A" "r.[161_302del,161g>a]" "p.[Cys54Serfs*14,Cys54Tyr]" "3"
"0000773341" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000773342" "00001847" "70" "559" "0" "559" "0" "c.559C>T" "r.(?)" "p.(Arg187Cys)" "5"
"0000773343" "00001847" "90" "6159" "0" "6159" "0" "c.6159G>A" "r.(?)" "p.(Trp2053*)" "45"
"0000773344" "00001847" "70" "4253" "4" "4253" "4" "c.4253+4C>T" "r.4129_4253del" "p.(Ile1377Hisfs*3)" "28i"
"0000773345" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000773346" "00001847" "50" "1654" "0" "1654" "0" "c.1654G>A" "r.(?)" "p.(Val552Ile)" "12"
"0000773347" "00001847" "70" "1648" "0" "1648" "0" "c.1648G>A" "r.(?)" "p.(Gly550Arg)" "12"
"0000773348" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000773349" "00001847" "50" "4771" "0" "4771" "0" "c.4771G>A" "r.(?)" "p.(Gly1591Arg)" "33"
"0000773350" "00001847" "10" "3602" "0" "3602" "0" "c.3602T>G" "r.(?)" "p.(Leu1201Arg)" "24"
"0000773351" "00001847" "70" "6229" "0" "6229" "0" "c.6229C>T" "r.(?)" "p.(Arg2077Trp)" "45"
"0000773352" "00001847" "50" "5836" "-11" "5836" "-11" "c.5836-11G>A" "r.(?)" "p.(?)" "41i"
"0000773353" "00001847" "70" "6449" "0" "6449" "0" "c.6449G>A" "r.(?)" "p.(Cys2150Tyr)" "47"
"0000773354" "00001847" "90" "216" "0" "216" "0" "c.216dup" "r.(?)" "p.(Ile73Aspfs*26)" "3"
"0000773355" "00001847" "90" "2099" "0" "2099" "0" "c.2099G>A" "r.(?)" "p.(Trp700*)" "14"
"0000773356" "00001847" "70" "214" "0" "214" "0" "c.214G>A" "r.(?)" "p.(Gly72Arg)" "3"
"0000773357" "00001847" "50" "5077" "0" "5077" "0" "c.5077G>A" "r.(?)" "p.(Val1693Ile)" "36"
"0000773358" "00001847" "50" "1928" "0" "1928" "0" "c.1928T>G" "r.(?)" "p.(Val643Gly)" "13"
"0000773359" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000773360" "00001847" "70" "6686" "0" "6686" "0" "c.6686T>C" "r.(?)" "p.(Leu2229Pro)" "48"
"0000773361" "00001847" "70" "1529" "0" "1529" "0" "c.1529T>C" "r.(?)" "p.(Leu510Pro)" "11"
"0000773362" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000773363" "00001847" "50" "317" "0" "317" "0" "c.317A>T" "r.(?)" "p.(Tyr106Phe)" "4"
"0000773364" "00001847" "50" "4771" "0" "4771" "0" "c.4771G>A" "r.(?)" "p.(Gly1591Arg)" "33"
"0000773365" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000773366" "00001847" "50" "3626" "0" "3626" "0" "c.3626T>C" "r.(?)" "p.(Met1209Thr)" "25"
"0000773367" "00001847" "70" "52" "0" "52" "0" "c.52C>T" "r.(?)" "p.(Arg18Trp)" "1"
"0000773368" "00001847" "90" "2160" "1" "2160" "1" "c.2160+1G>T" "r.spl" "p.?" "14i"
"0000773369" "00001847" "90" "2160" "1" "2160" "1" "c.2160+1G>T" "r.spl" "p.?" "14i"
"0000773370" "00001847" "70" "6326" "0" "6326" "0" "c.6326T>C" "r.(?)" "p.(Leu2109Pro)" "46"
"0000773371" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000773372" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000773373" "00001847" "70" "4253" "5" "4253" "5" "c.4253+5G>T" "r.[4129_4253del,=]" "p.[Ile1377Hisfs*3,=]" "28i"
"0000773374" "00001847" "70" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" "31"
"0000773375" "00001847" "70" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" "31"
"0000773376" "00001847" "50" "2617" "0" "2617" "0" "c.2617T>C" "r.(?)" "p.(Phe873Leu)" "17"
"0000773377" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000773378" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000773379" "00001847" "70" "203" "0" "203" "0" "c.203C>G" "r.(?)" "p.(Pro68Arg)" "3"
"0000773380" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000773381" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000773382" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000773383" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000773384" "00001847" "70" "6449" "0" "6449" "0" "c.6449G>A" "r.(?)" "p.(Cys2150Tyr)" "47"
"0000773385" "00001847" "70" "2300" "0" "2300" "0" "c.2300T>A" "r.(?)" "p.(Val767Asp)" "15"
"0000773386" "00001847" "70" "4610" "0" "4610" "0" "c.4610C>T" "r.(?)" "p.(Thr1537Met)" "31"
"0000773387" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000773388" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000773389" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000773390" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000773391" "00001847" "70" "2915" "0" "2915" "0" "c.2915C>A" "r.(?)" "p.(Thr972Asn)" "19"
"0000773392" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000773393" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000773394" "00001847" "50" "677" "0" "677" "0" "c.677G>T" "r.(?)" "p.(Arg226Leu)" "6"
"0000773395" "00001847" "70" "286" "0" "286" "0" "c.286A>C" "r.(?)" "p.(Asn96His)" "3"
"0000773396" "00001847" "90" "1761" "-2" "1761" "-2" "c.1761-2A>G" "r.spl" "p.?" "13"
"0000773397" "00001847" "70" "3051" "-14" "3051" "-14" "c.3051-14T>A" "r.spl?" "p.(?)" "20i"
"0000773398" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000773399" "00001847" "70" "2915" "0" "2915" "0" "c.2915C>A" "r.(?)" "p.(Thr972Asn)" "19"
"0000773400" "00001847" "30" "618" "0" "618" "0" "c.618C>T" "r.(?)" "p.(Ser206=)" "6"
"0000773401" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000773402" "00001847" "70" "3076" "0" "3076" "0" "c.3076T>C" "r.(?)" "p.(Phe1026Leu)" "21"
"0000773403" "00001847" "70" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.[=,5196_5197ins5196+1140_5196+1212]" "p.[=,Met1733Glufs*78]" "36i"
"0000773404" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000773405" "00001847" "70" "6229" "0" "6229" "0" "c.6229C>T" "r.(?)" "p.(Arg2077Trp)" "45"
"0000773406" "00001847" "70" "4457" "0" "4457" "0" "c.4457C>T" "r.(?)" "p.(Pro1486Leu)" "30"
"0000773407" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000773408" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000773409" "00001847" "90" "319" "0" "319" "0" "c.319C>T" "r.(?)" "p.(Arg107*)" "4"
"0000773410" "00001847" "70" "5282" "0" "5282" "0" "c.5282C>G" "r.(?)" "p.(Pro1761Arg)" "37"
"0000773411" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000773412" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000773413" "00001847" "90" "6088" "0" "6088" "0" "c.6088C>T" "r.(?)" "p.(Arg2030*)" "44"
"0000773414" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000773415" "00001847" "50" "5693" "0" "5693" "0" "c.5693G>A" "r.(?)" "p.(Arg1898His)" "40"
"0000773416" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000773417" "00001847" "50" "4297" "0" "4297" "0" "c.4297G>A" "r.(?)" "p.(Val1433Ile)" "29"
"0000773418" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000773419" "00001847" "90" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071Cysfs*14)" "22"
"0000773420" "00001847" "70" "161" "0" "161" "0" "c.161G>A" "r.[161_302del,161g>a]" "p.[Cys54Serfs*14,Cys54Tyr]" "3"
"0000773421" "00001847" "70" "6832" "0" "6832" "0" "c.*10C>A" "r.(?)" "p.(Ala2037Asp)" "50"
"0000773422" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000773423" "00001847" "50" "298" "0" "298" "0" "c.298T>C" "r.(?)" "p.(Ser100Pro)" "3"
"0000773424" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000773425" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000773426" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000773427" "00001847" "70" "161" "0" "161" "0" "c.161G>A" "r.[161_302del,161g>a]" "p.[Cys54Serfs*14,Cys54Tyr]" "3"
"0000773428" "00001847" "70" "3335" "0" "3335" "0" "c.3335C>A" "r.(?)" "p.(Thr1112Asn)" "23"
"0000773429" "00001847" "30" "4203" "0" "4203" "0" "c.4203C>A" "r.(?)" "p.(=)" "28"
"0000773430" "00001847" "90" "3056" "0" "3056" "0" "c.3056C>T" "r.(?)" "p.(Thr1019Met)" "21"
"0000773431" "00001847" "90" "4537" "0" "4537" "0" "c.4537dup" "r.(?)" "p.(Gln1513Profs*42)" "30"
"0000773432" "00001847" "70" "2252" "0" "2252" "0" "c.2252T>C" "r.(?)" "p.(Leu751Pro)" "15"
"0000773433" "00001847" "70" "52" "0" "52" "0" "c.52C>T" "r.(?)" "p.(Arg18Trp)" "1"
"0000773434" "00001847" "70" "760" "0" "760" "0" "c.760T>C" "r.(?)" "p.(Phe254Leu)" "6"
"0000773435" "00001847" "50" "4466" "0" "4466" "0" "c.4466G>A" "r.(?)" "p.(Arg1489Lys)" "30"
"0000773436" "00001847" "70" "6397" "0" "6397" "0" "c.6397T>C" "r.(?)" "p.(Cys2133Arg)" "47"
"0000773437" "00001847" "50" "5413" "0" "5413" "0" "c.5413A>G" "r.(?)" "p.(Asn1805Asp)" "38"
"0000773438" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000773439" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000773440" "00001847" "90" "1988" "0" "1988" "0" "c.1988G>A" "r.(?)" "p.(Trp663*)" "14"
"0000773441" "00001847" "90" "2564" "0" "2564" "0" "c.2564G>A" "r.(?)" "p.(Trp855*)" "16"
"0000773442" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000773443" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000773444" "00001847" "70" "1609" "0" "1609" "0" "c.1609C>T" "r.(?)" "p.(Arg537Cys)" "12"
"0000773445" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000773446" "00001847" "30" "4203" "0" "4203" "0" "c.4203C>A" "r.(?)" "p.(=)" "28"
"0000773447" "00001847" "70" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" "35"
"0000773448" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000773449" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000773450" "00001847" "70" "1253" "0" "1253" "0" "c.1253T>C" "r.(?)" "p.(Phe418Ser)" "10"
"0000773451" "00001847" "70" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" "44"
"0000773452" "00001847" "90" "2971" "0" "2971" "0" "c.2971G>C" "r.(?)" "p.(Gly991Arg)" "20"
"0000773453" "00001847" "50" "5196" "1159" "5196" "1159" "c.5196+1159G>A" "r.=" "p.(=)" "36i"
"0000773454" "00001847" "90" "3329" "-1" "3329" "-1" "c.3329-1G>A" "r.spl" "p.?" "22i"
"0000773455" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000773456" "00001847" "90" "5898" "1" "5898" "1" "c.5898+1G>A" "r.spl" "p.?" "42i"
"0000773457" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000773458" "00001847" "50" "2023" "0" "2023" "0" "c.2023G>A" "r.(?)" "p.(Val675Ile)" "14"
"0000773459" "00001847" "90" "5312" "2" "5312" "2" "c.5312+2T>G" "r.spl" "p.?" "37i"
"0000773460" "00001847" "90" "3259" "0" "3259" "0" "c.3259G>A" "r.(?)" "p.(Glu1087Lys)" "22"
"0000773461" "00001847" "70" "1958" "0" "1958" "0" "c.1958G>A" "r.(?)" "p.(Arg653His)" "14"
"0000773462" "00001847" "70" "6112" "0" "6112" "0" "c.6112C>T" "r.(?)" "p.(Arg2038Trp)" "44"
"0000773463" "00001847" "70" "6112" "0" "6112" "0" "c.6112C>T" "r.(?)" "p.(Arg2038Trp)" "44"
"0000773464" "00001847" "70" "85" "0" "85" "0" "c.85C>T" "r.(?)" "p.(Leu29Phe)" "2"
"0000773465" "00001847" "50" "2354" "0" "2354" "0" "c.2354G>T" "r.(?)" "p.(Arg785Leu)" "15"
"0000773466" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000773467" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.[(768g>u;768_769ins768+1_768+35)]" "p.(Leu257Valfs*17)" "6"
"0000773468" "00001847" "70" "3389" "0" "3389" "0" "c.3389T>C" "r.(?)" "p.(Ile1130Thr)" "23"
"0000773469" "00001847" "70" "3840" "0" "3845" "0" "c.3840_3845del" "r.(?)" "p.(Asp1281_Ser1282del)" "26"
"0000773470" "00001847" "90" "2587" "0" "2587" "0" "c.2587G>T" "r.(?)" "p.(Gly863*)" "16"
"0000773471" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000773472" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000773473" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000773474" "00001847" "70" "5509" "0" "5509" "0" "c.5509C>T" "r.(?)" "p.(Pro1837Ser)" "39"
"0000773475" "00001847" "90" "1937" "1" "1937" "1" "c.1937+1G>A" "r.spl" "p.?" "13i"
"0000773476" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000773477" "00001847" "30" "6730" "-3" "6730" "-3" "c.6730-3T>C" "r.(?)" "p.(?)" "48i"
"0000773478" "00001847" "50" "4771" "0" "4771" "0" "c.4771G>A" "r.(?)" "p.(Gly1591Arg)" "33"
"0000773479" "00001847" "90" "4537" "0" "4537" "0" "c.4537dup" "r.(?)" "p.(Gln1513Profs*42)" "30"
"0000773480" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000773481" "00001847" "70" "4793" "0" "4793" "0" "c.4793C>A" "r.(?)" "p.(Ala1598Asp)" "34"
"0000773482" "00001847" "70" "1958" "0" "1958" "0" "c.1958G>A" "r.(?)" "p.(Arg653His)" "14"
"0000773483" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000773484" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000773485" "00001847" "90" "6445" "0" "6445" "0" "c.6445C>T" "r.(?)" "p.(Arg2149*)" "47"
"0000773486" "00001847" "90" "478" "0" "478" "0" "c.478G>T" "r.(?)" "p.(Glu160*)" "5"
"0000773487" "00001847" "90" "2966" "0" "2966" "0" "c.2966T>C" "r.(?)" "p.(Val989Ala)" "20"
"0000773488" "00001847" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408*)" "9"
"0000773489" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000773490" "00001847" "90" "454" "0" "454" "0" "c.454C>T" "r.(?)" "p.(Arg152*)" "5"
"0000773491" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000773492" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000773493" "00001847" "50" "466" "0" "466" "0" "c.466A>G" "r.(?)" "p.(Ile156Val)" "5"
"0000773494" "00001847" "50" "5186" "0" "5186" "0" "c.5186T>C" "r.(?)" "p.(Leu1729Pro)" "36"
"0000773495" "00001847" "90" "319" "0" "319" "0" "c.319C>T" "r.(?)" "p.(Arg107*)" "4"
"0000773496" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000773497" "00001847" "90" "5059" "0" "5059" "0" "c.5059del" "r.(?)" "p.(Ile1687Phefs*15)" "36"
"0000773498" "00001847" "90" "1851" "0" "1860" "0" "c.1851_1860del" "r.(?)" "p.(Ile619Alafs*27)" "13"
"0000773499" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000773500" "00001847" "70" "872" "0" "872" "0" "c.872C>T" "r.(?)" "p.(Pro291Leu)" "8"
"0000773501" "00001847" "70" "4537" "0" "4537" "0" "c.4537C>G" "r.(?)" "p.(Gln1513Glu)" "30"
"0000773502" "00001847" "70" "2453" "0" "2453" "0" "c.2453G>A" "r.(?)" "p.(Gly818Glu)" "16"
"0000773503" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000773504" "00001847" "30" "6730" "-3" "6730" "-3" "c.6730-3T>C" "r.(?)" "p.(?)" "48i"
"0000773505" "00001847" "90" "1995" "0" "1995" "0" "c.1995C>A" "r.(?)" "p.(Tyr655*)" "14"
"0000773506" "00001847" "70" "4253" "4" "4253" "4" "c.4253+4C>T" "r.4129_4253del" "p.(Ile1377Hisfs*3)" "28i"
"0000773507" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000773508" "00001847" "70" "6729" "5" "6729" "19" "c.6729+5_6729+19del" "r.6480_6729del" "p.(Phe2161Cysfs*3)" "48i"
"0000773509" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000773510" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000773511" "00001847" "70" "185" "0" "185" "0" "c.185C>T" "r.(?)" "p.(Pro62Leu)" "3"
"0000773512" "00001847" "30" "4203" "0" "4203" "0" "c.4203C>A" "r.(?)" "p.(=)" "28"
"0000773513" "00001847" "70" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" "31"
"0000773514" "00001847" "50" "466" "0" "466" "0" "c.466A>G" "r.(?)" "p.(Ile156Val)" "5"
"0000773515" "00001847" "50" "466" "0" "466" "0" "c.466A>G" "r.(?)" "p.(Ile156Val)" "5"
"0000773516" "00001847" "90" "4537" "0" "4537" "0" "c.4537dup" "r.(?)" "p.(Gln1513Profs*42)" "30"
"0000773517" "00001847" "70" "1844" "0" "1844" "0" "c.1844T>C" "r.(?)" "p.(Val615Ala)" "13"
"0000773518" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000773519" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000773520" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000773521" "00001847" "70" "161" "0" "161" "0" "c.161G>A" "r.[161_302del,161g>a]" "p.[Cys54Serfs*14,Cys54Tyr]" "3"
"0000773522" "00001847" "90" "3259" "0" "3259" "0" "c.3259G>A" "r.(?)" "p.(Glu1087Lys)" "22"
"0000773523" "00001847" "70" "1927" "0" "1927" "0" "c.1927G>A" "r.(?)" "p.(Val643Met)" "13"
"0000773524" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000773525" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000773526" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000773527" "00001847" "90" "2616" "0" "2616" "0" "c.2616del" "r.(?)" "p.(Leu874Phefs*27)" "17"
"0000773528" "00001847" "70" "5560" "0" "5560" "0" "c.5560G>T" "r.(?)" "p.(Val1854Leu)" "39"
"0000773529" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000773530" "00001847" "70" "5318" "0" "5318" "0" "c.5318C>T" "r.(?)" "p.(Ala1773Val)" "38"
"0000773531" "00001847" "90" "1344" "0" "1344" "0" "c.1344del" "r.(?)" "p.(Met448Ilefs*3)" "10"
"0000773532" "00001847" "50" "1977" "0" "1977" "0" "c.1977G>A" "r.(?)" "p.(Met659Ile)" "14"
"0000773533" "00001847" "90" "2564" "0" "2564" "0" "c.2564G>A" "r.(?)" "p.(Trp855*)" "16"
"0000773534" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000773535" "00001847" "90" "3191" "-2" "3191" "-2" "c.3191-2A>G" "r.spl" "p.?" "21i"
"0000773536" "00001847" "90" "5161" "0" "5162" "0" "c.5161_5162del" "r.(?)" "p.(Thr1721Hisfs*65)" "36"
"0000773537" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000773538" "00001847" "50" "140" "0" "140" "0" "c.140C>T" "r.(?)" "p.(Pro47Leu)" "2"
"0000773539" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000773540" "00001847" "90" "247" "0" "250" "0" "c.247_250dup" "r.(?)" "p.(Ser84Thrfs*16)" "3"
"0000773541" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000773542" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000773543" "00001847" "90" "4237" "0" "4237" "0" "c.4237C>T" "r.(?)" "p.(Gln1413*)" "28"
"0000773544" "00001847" "50" "5077" "0" "5077" "0" "c.5077G>A" "r.(?)" "p.(Val1693Ile)" "36"
"0000773545" "00001847" "50" "466" "0" "466" "0" "c.466A>G" "r.(?)" "p.(Ile156Val)" "5"
"0000773546" "00001847" "70" "286" "0" "286" "0" "c.286A>T" "r.(?)" "p.(Asn96Tyr)" "3"
"0000773547" "00001847" "70" "2905" "0" "2905" "0" "c.2905A>G" "r.(?)" "p.(Lys969Glu)" "19"
"0000773548" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000773549" "00001847" "70" "1807" "0" "1807" "0" "c.1807T>C" "r.(?)" "p.(Tyr603His)" "13"
"0000773550" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000773551" "00001847" "70" "872" "0" "872" "0" "c.872C>T" "r.(?)" "p.(Pro291Leu)" "8"
"0000773552" "00001847" "50" "5413" "0" "5413" "0" "c.5413A>G" "r.(?)" "p.(Asn1805Asp)" "38"
"0000773553" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000773554" "00001847" "50" "1938" "-605" "1938" "-605" "c.1938-605C>T" "r.(?)" "p.(?)" "13i"
"0000773555" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000773556" "00001847" "70" "6449" "0" "6449" "0" "c.6449G>A" "r.(?)" "p.(Cys2150Tyr)" "47"
"0000773557" "00001847" "90" "4635" "-1" "4635" "-1" "c.4635-1G>T" "r.spl" "p.?" "31i"
"0000773558" "00001847" "70" "6437" "0" "6437" "0" "c.6437G>A" "r.(?)" "p.(Gly2146Asp)" "47"
"0000773559" "00001847" "70" "6383" "0" "6383" "0" "c.6383A>G" "r.(?)" "p.(His2128Arg)" "46"
"0000773560" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000773561" "00001847" "70" "3840" "0" "3845" "0" "c.3840_3845del" "r.(?)" "p.(Asp1281_Ser1282del)" "26"
"0000773562" "00001847" "50" "3758" "0" "3758" "0" "c.3758C>T" "r.(?)" "p.(Thr1253Met)" "25"
"0000773563" "00001847" "70" "2757" "0" "2757" "0" "c.2757A>C" "r.(?)" "p.(Glu919Asp)" "19"
"0000773564" "00001847" "50" "2701" "0" "2701" "0" "c.2701A>G" "r.(?)" "p.(Thr901Ala)" "18"
"0000773565" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000773566" "00001847" "70" "1927" "0" "1927" "0" "c.1927G>A" "r.(?)" "p.(Val643Met)" "13"
"0000773567" "00001847" "90" "1957" "0" "1957" "0" "c.1957C>T" "r.(?)" "p.(Arg653Cys)" "14"
"0000773568" "00001847" "50" "3863" "-14" "3863" "-14" "c.3863-14A>G" "r.(?)" "p.(?)" "26i"
"0000773569" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000773570" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000773571" "00001847" "90" "5222" "0" "5232" "0" "c.5222_5232del" "r.(?)" "p.(Leu1741Hisfs*42)" "37"
"0000773572" "00001847" "70" "1805" "0" "1805" "0" "c.1805G>A" "r.(?)" "p.(Arg602Gln)" "13"
"0000773573" "00001847" "90" "1937" "1" "1937" "1" "c.1937+1G>A" "r.spl" "p.?" "13i"
"0000773574" "00001847" "90" "1937" "1" "1937" "1" "c.1937+1G>A" "r.spl" "p.?" "13i"
"0000773575" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000773576" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000773577" "00001847" "70" "5318" "0" "5318" "0" "c.5318C>T" "r.(?)" "p.(Ala1773Val)" "38"
"0000773578" "00001847" "90" "2971" "0" "2971" "0" "c.2971G>C" "r.(?)" "p.(Gly991Arg)" "20"
"0000773579" "00001847" "90" "2971" "0" "2971" "0" "c.2971G>C" "r.(?)" "p.(Gly991Arg)" "20"
"0000773580" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000773581" "00001847" "30" "4203" "0" "4203" "0" "c.4203C>A" "r.(?)" "p.(=)" "28"
"0000773582" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000773583" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000773584" "00001847" "30" "618" "0" "618" "0" "c.618C>T" "r.(?)" "p.(Ser206=)" "6"
"0000773585" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000773586" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000773587" "00001847" "70" "509" "0" "509" "0" "c.509A>C" "r.(?)" "p.(Asn170Thr)" "5"
"0000773588" "00001847" "70" "926" "0" "926" "0" "c.926C>G" "r.(?)" "p.(Pro309Arg)" "8"
"0000773589" "00001847" "50" "6718" "0" "6718" "0" "c.6718A>G" "r.(?)" "p.(Thr2240Ala)" "48"
"0000773590" "00001847" "70" "203" "0" "203" "0" "c.203C>T" "r.(?)" "p.(Pro68Leu)" "3"
"0000773591" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000773592" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000773593" "00001847" "70" "4363" "0" "4363" "0" "c.4363T>C" "r.(?)" "p.(Cys1455Arg)" "30"
"0000773594" "00001847" "90" "2005" "0" "2006" "0" "c.2005_2006del" "r.(?)" "p.(Met669Aspfs*96)" "14"
"0000773595" "00001847" "70" "1609" "0" "1609" "0" "c.1609C>T" "r.(?)" "p.(Arg537Cys)" "12"
"0000773596" "00001847" "90" "3682" "0" "3682" "0" "c.3682G>T" "r.(?)" "p.(Glu1228*)" "25"
"0000773597" "00001847" "90" "5867" "0" "5870" "0" "c.5867_5870del" "r.(?)" "p.(Asp1956Glyfs*17)" "42"
"0000773598" "00001847" "50" "5693" "0" "5693" "0" "c.5693G>A" "r.(?)" "p.(Arg1898His)" "40"
"0000773599" "00001847" "70" "4222" "0" "4222" "0" "c.4222T>C" "r.(?)" "p.(Trp1408Arg)" "28"
"0000773600" "00001847" "70" "4978" "0" "4978" "0" "c.4978C>T" "r.(?)" "p.(Pro1660Ser)" "35"
"0000773601" "00001847" "70" "4773" "3" "4773" "3" "c.4773+3A>G" "r.[4668_4773del,=]" "p.[Tyr1557Alafs*18,=]" "33i"
"0000773602" "00001847" "50" "4326" "0" "4326" "0" "c.4326C>A" "r.(?)" "p.(Asn1442Lys)" "29"
"0000773603" "00001847" "90" "2966" "0" "2966" "0" "c.2966T>C" "r.(?)" "p.(Val989Ala)" "20"
"0000773604" "00001847" "70" "4889" "0" "4889" "0" "c.4889T>C" "r.(?)" "p.(Phe1630Ser)" "35"
"0000773605" "00001847" "30" "6730" "-3" "6730" "-3" "c.6730-3T>C" "r.(?)" "p.(?)" "48i"
"0000773606" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000773607" "00001847" "50" "4771" "0" "4771" "0" "c.4771G>A" "r.(?)" "p.(Gly1591Arg)" "33"
"0000773608" "00001847" "70" "1609" "0" "1609" "0" "c.1609C>T" "r.(?)" "p.(Arg537Cys)" "12"
"0000773609" "00001847" "70" "859" "-9" "859" "-9" "c.859-9T>C" "r.[=,859_1356del]" "p.[=,Phe287_Arg452del]" "7i"
"0000773610" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000773611" "00001847" "90" "1957" "0" "1957" "0" "c.1957C>T" "r.(?)" "p.(Arg653Cys)" "14"
"0000773612" "00001847" "90" "1957" "0" "1957" "0" "c.1957C>T" "r.(?)" "p.(Arg653Cys)" "14"
"0000773613" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000773614" "00001847" "90" "4637" "0" "4637" "0" "c.4637T>G" "r.(?)" "p.(Leu1546*)" "32"
"0000773615" "00001847" "90" "3259" "0" "3259" "0" "c.3259G>A" "r.(?)" "p.(Glu1087Lys)" "22"
"0000773616" "00001847" "90" "5196" "1" "5196" "1" "c.5196+1G>A" "r.spl" "p.?" "36i"
"0000773617" "00001847" "70" "5113" "0" "5113" "0" "c.5113C>T" "r.(?)" "p.(Arg1705Trp)" "36"
"0000773618" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000773619" "00001847" "90" "3898" "0" "3898" "0" "c.3898C>T" "r.(?)" "p.(Arg1300*)" "27"
"0000773620" "00001847" "90" "302" "6" "302" "6" "c.302+6T>C" "r.(?)" "p.(?)" "3i"
"0000773621" "00001847" "50" "3352" "0" "3352" "0" "c.3352C>T" "r.(?)" "p.(His1118Tyr)" "23"
"0000773622" "00001847" "70" "2609" "0" "2609" "0" "c.2609C>T" "r.(?)" "p.(Pro870Leu)" "17"
"0000773623" "00001847" "50" "466" "0" "466" "0" "c.466A>G" "r.(?)" "p.(Ile156Val)" "5"
"0000773624" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000773625" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000773626" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000773627" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000773628" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000773629" "00001847" "70" "5329" "0" "5329" "0" "c.5329A>T" "r.(?)" "p.(Met1777Leu)" "38"
"0000773630" "00001847" "90" "3328" "1" "3328" "1" "c.3328+1G>A" "r.spl" "p.?" "22i"
"0000773631" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000773632" "00001847" "90" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071Cysfs*14)" "22"
"0000773633" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000773634" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000773635" "00001847" "50" "1715" "0" "1715" "0" "c.1715G>C" "r.(?)" "p.(Arg572Pro)" "12"
"0000773636" "00001847" "70" "2948" "0" "2948" "0" "c.2948C>T" "r.(?)" "p.(Thr983Ile)" "20"
"0000773637" "00001847" "50" "667" "0" "667" "0" "c.667A>C" "r.(?)" "p.(Lys223Gln)" "6"
"0000773638" "00001847" "70" "179" "0" "179" "0" "c.179C>T" "r.(?)" "p.(Ala60Val)" "3"
"0000773639" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000773640" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000773641" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000773642" "00001847" "70" "4793" "0" "4793" "0" "c.4793C>A" "r.(?)" "p.(Ala1598Asp)" "34"
"0000773643" "00001847" "70" "6006" "-16" "6006" "-16" "c.6006-16G>A" "r.spl?" "p.(?)" "43i"
"0000773644" "00001847" "70" "161" "0" "161" "0" "c.161G>A" "r.[161_302del,161g>a]" "p.[Cys54Serfs*14,Cys54Tyr]" "3"
"0000773645" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000773646" "00001847" "70" "4773" "3" "4773" "3" "c.4773+3A>G" "r.[4668_4773del,=]" "p.[Tyr1557Alafs*18,=]" "33i"
"0000773647" "00001847" "90" "2349" "0" "2356" "0" "c.2349_2356dup" "r.(?)" "p.(Met786Argfs*4)" "15"
"0000773648" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000773649" "00001847" "30" "4203" "0" "4203" "0" "c.4203C>A" "r.(?)" "p.(=)" "28"
"0000773650" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000773651" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000773652" "00001847" "70" "2453" "0" "2453" "0" "c.2453G>A" "r.(?)" "p.(Gly818Glu)" "16"
"0000773653" "00001847" "70" "4793" "0" "4793" "0" "c.4793C>A" "r.(?)" "p.(Ala1598Asp)" "34"
"0000773654" "00001847" "70" "4253" "5" "4253" "5" "c.4253+5G>T" "r.[4129_4253del,=]" "p.[Ile1377Hisfs*3,=]" "28i"
"0000773655" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000773656" "00001847" "50" "4715" "0" "4715" "0" "c.4715C>T" "r.(?)" "p.(Thr1572Met)" "33"
"0000773657" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000773658" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000773659" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000773660" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000773661" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000773662" "00001847" "50" "5955" "0" "5955" "0" "c.5955C>T" "r.(?)" "p.(Leu1985=)" "43"
"0000773663" "00001847" "50" "5693" "0" "5693" "0" "c.5693G>A" "r.(?)" "p.(Arg1898His)" "40"
"0000773664" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000773665" "00001847" "90" "5899" "-2" "5899" "-2" "c.5899-2del" "r.(?)" "p.(?)" "42i"
"0000773666" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000773667" "00001847" "50" "2608" "0" "2608" "0" "c.2608C>T" "r.(?)" "p.(Pro870Ser)" "17"
"0000773668" "00001847" "70" "4556" "0" "4556" "0" "c.4556C>T" "r.(?)" "p.(Thr1519Met)" "31"
"0000773669" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000773670" "00001847" "70" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" "31"
"0000773671" "00001847" "90" "1561" "0" "1561" "0" "c.1561del" "r.(?)" "p.(Val521Serfs*47)" "12"
"0000773672" "00001847" "30" "4203" "0" "4203" "0" "c.4203C>A" "r.(?)" "p.(=)" "28"
"0000773673" "00001847" "30" "4203" "0" "4203" "0" "c.4203C>A" "r.(?)" "p.(=)" "28"
"0000773674" "00001847" "90" "2971" "0" "2971" "0" "c.2971G>C" "r.(?)" "p.(Gly991Arg)" "20"
"0000773675" "00001847" "90" "6386" "2" "6386" "2" "c.6386+2C>G" "r.(?)" "p.(?)" "46i"
"0000773676" "00001847" "90" "3808" "0" "3808" "0" "c.3808G>T" "r.(?)" "p.(Glu1270*)" "25"
"0000773677" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000773678" "00001847" "70" "3059" "0" "3059" "0" "c.3059T>A" "r.(?)" "p.(Val1020Glu)" "21"
"0000773679" "00001847" "30" "672" "0" "672" "0" "c.672G>A" "r.(?)" "p.(Thr224=)" "6"
"0000773680" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000773681" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000773682" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000773683" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000773684" "00001847" "70" "1749" "0" "1749" "0" "c.1749G>C" "r.(?)" "p.(Lys583Asn)" "12"
"0000773685" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000773686" "00001847" "50" "3096" "0" "3096" "0" "c.3096A>T" "r.(?)" "p.(Gly1032=)" "21"
"0000773687" "00001847" "70" "6098" "0" "6098" "0" "c.6098T>G" "r.(?)" "p.(Leu2033Arg)" "44"
"0000773688" "00001847" "70" "5951" "0" "5951" "0" "c.5951T>G" "r.(?)" "p.(Met1984Arg)" "43"
"0000773689" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000773690" "00001847" "70" "1519" "0" "1519" "0" "c.1519G>T" "r.(?)" "p.(Asp507Tyr)" "11"
"0000773691" "00001847" "90" "2971" "0" "2971" "0" "c.2971G>C" "r.(?)" "p.(Gly991Arg)" "20"
"0000773692" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000773693" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000773694" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000773695" "00001847" "70" "2311" "0" "2311" "0" "c.2311A>T" "r.(?)" "p.(Thr771Ser)" "15"
"0000773696" "00001847" "70" "2461" "0" "2461" "0" "c.2461T>A" "r.(?)" "p.(Trp821Arg)" "16"
"0000773697" "00001847" "90" "355" "0" "356" "0" "c.355_356del" "r.(?)" "p.(Ser119Profs*41)" "4"
"0000773698" "00001847" "70" "3385" "0" "3385" "0" "c.3385C>T" "r.(?)" "p.(Arg1129Cys)" "23"
"0000773699" "00001847" "70" "4919" "0" "4919" "0" "c.4919G>A" "r.(?)" "p.(Arg1640Gln)" "35"
"0000773700" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000773701" "00001847" "50" "3758" "0" "3758" "0" "c.3758C>T" "r.(?)" "p.(Thr1253Met)" "25"
"0000773702" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000773703" "00001847" "50" "5578" "0" "5578" "0" "c.5578C>T" "r.(?)" "p.(Arg1860Trp)" "39"
"0000773704" "00001847" "90" "6166" "0" "6166" "0" "c.6166A>T" "r.(?)" "p.(Lys2056*)" "45"
"0000773705" "00001847" "70" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" "44"
"0000773706" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000773707" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000773708" "00001847" "70" "428" "0" "428" "0" "c.428C>T" "r.(?)" "p.(Pro143Leu)" "4"
"0000773709" "00001847" "70" "1609" "0" "1609" "0" "c.1609C>T" "r.(?)" "p.(Arg537Cys)" "12"
"0000773710" "00001847" "90" "6316" "0" "6316" "0" "c.6316C>T" "r.(?)" "p.(Arg2106Cys)" "46"
"0000773711" "00001847" "90" "885" "0" "885" "0" "c.885del" "r.(?)" "p.(Leu296Cysfs*4)" "8"
"0000773712" "00001847" "70" "4462" "0" "4462" "0" "c.4462T>C" "r.(?)" "p.(Cys1488Arg)" "30"
"0000773713" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000773714" "00001847" "50" "838" "0" "838" "0" "c.838A>T" "r.(?)" "p.(Met280Leu)" "7"
"0000773715" "00001847" "70" "618" "0" "618" "0" "c.618C>G" "r.(?)" "p.(Ser206Arg)" "6"
"0000773716" "00001847" "70" "4383" "0" "4383" "0" "c.4383G>C" "r.(?)" "p.(Trp1461Cys)" "30"
"0000773717" "00001847" "90" "302" "1" "302" "1" "c.302+1G>A" "r.spl" "p.?" "3i"
"0000773718" "00001847" "90" "4537" "0" "4537" "0" "c.4537dup" "r.(?)" "p.(Gln1513Profs*42)" "30"
"0000773719" "00001847" "70" "4793" "0" "4793" "0" "c.4793C>A" "r.(?)" "p.(Ala1598Asp)" "34"
"0000773720" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000773721" "00001847" "70" "4996" "0" "4996" "0" "c.4996G>A" "r.(?)" "p.(Glu1666Lys)" "35"
"0000773722" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000773723" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000773724" "00001847" "90" "6730" "-1" "6730" "-1" "c.6730-1G>C" "r.spl" "p.?" "48i"
"0000773725" "00001847" "50" "4195" "0" "4195" "0" "c.4195G>A" "r.(?)" "p.(Glu1399Lys)" "28"
"0000773726" "00001847" "70" "5843" "0" "5844" "0" "c.5843_5844delinsTG" "r.(?)" "p.(Pro1948Leu)" "42"
"0000773727" "00001847" "70" "161" "0" "161" "0" "c.161G>A" "r.[161_302del,161g>a]" "p.[Cys54Serfs*14,Cys54Tyr]" "3"
"0000773728" "00001847" "90" "1957" "0" "1957" "0" "c.1957C>T" "r.(?)" "p.(Arg653Cys)" "14"
"0000773729" "00001847" "70" "161" "0" "161" "0" "c.161G>A" "r.[161_302del,161g>a]" "p.[Cys54Serfs*14,Cys54Tyr]" "3"
"0000773730" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000773731" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000773732" "00001847" "70" "1812" "0" "1812" "0" "c.1812C>G" "r.(?)" "p.(Ile604Met)" "13"
"0000773733" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000773734" "00001847" "70" "2267" "0" "2267" "0" "c.2267C>T" "r.(?)" "p.(Ser756Phe)" "15"
"0000773735" "00001847" "70" "6221" "0" "6221" "0" "c.6221G>A" "r.(?)" "p.(Gly2074Asp)" "45"
"0000773736" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000773737" "00001847" "70" "1927" "0" "1927" "0" "c.1927G>A" "r.(?)" "p.(Val643Met)" "13"
"0000773738" "00001847" "70" "179" "0" "179" "0" "c.179C>T" "r.(?)" "p.(Ala60Val)" "3"
"0000773739" "00001847" "70" "179" "0" "179" "0" "c.179C>T" "r.(?)" "p.(Ala60Val)" "3"
"0000773740" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000773741" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000773742" "00001847" "70" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" "35"
"0000773743" "00001847" "70" "5914" "0" "5914" "0" "c.5914G>A" "r.(?)" "p.(Gly1972Arg)" "43"
"0000773744" "00001847" "70" "4919" "0" "4919" "0" "c.4919G>A" "r.(?)" "p.(Arg1640Gln)" "35"
"0000773745" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>A" "r.(?)" "p.(Gly863Glu)" "17"
"0000773746" "00001847" "70" "2915" "0" "2915" "0" "c.2915C>A" "r.(?)" "p.(Thr972Asn)" "19"
"0000773747" "00001847" "70" "2385" "0" "2385" "0" "c.2385C>G" "r.(?)" "p.(Ser795Arg)" "16"
"0000773748" "00001847" "70" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" "44"
"0000773749" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000773750" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000773751" "00001847" "90" "5222" "0" "5232" "0" "c.5222_5232del" "r.(?)" "p.(Leu1741Hisfs*42)" "37"
"0000773752" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000773753" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000773754" "00001847" "50" "868" "0" "868" "0" "c.868C>T" "r.(?)" "p.(Arg290Trp)" "8"
"0000773755" "00001847" "90" "247" "0" "250" "0" "c.247_250dup" "r.(?)" "p.(Ser84Thrfs*16)" "3"
"0000773756" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000773757" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000773758" "00001847" "70" "3241" "0" "3241" "0" "c.3241A>G" "r.(?)" "p.(Lys1081Glu)" "22"
"0000773759" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000773760" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000773761" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000773762" "00001847" "90" "6238" "0" "6239" "0" "c.6238_6239del" "r.(?)" "p.(Ser2080Hisfs*16)" "45"
"0000773763" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.[(768g>u;768_769ins768+1_768+35)]" "p.(Leu257Valfs*17)" "6"
"0000773764" "00001847" "50" "1532" "0" "1532" "0" "c.1532G>A" "r.(?)" "p.(Arg511His)" "11"
"0000773765" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000773766" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000773767" "00001847" "70" "1853" "0" "1853" "0" "c.1853G>A" "r.(?)" "p.(Gly618Glu)" "13"
"0000773768" "00001847" "90" "2160" "1" "2160" "1" "c.2160+1G>T" "r.spl" "p.?" "14i"
"0000773769" "00001847" "90" "6088" "0" "6088" "0" "c.6088C>T" "r.(?)" "p.(Arg2030*)" "44"
"0000773770" "00001847" "70" "4919" "0" "4919" "0" "c.4919G>A" "r.(?)" "p.(Arg1640Gln)" "35"
"0000773771" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000773772" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000773773" "00001847" "70" "1015" "0" "1015" "0" "c.1015T>G" "r.(?)" "p.(Trp339Gly)" "8"
"0000773774" "00001847" "50" "4926" "0" "4926" "0" "c.4926C>G" "r.(?)" "p.(Ser1642Arg)" "35"
"0000773775" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000773776" "00001847" "70" "179" "0" "179" "0" "c.179C>T" "r.(?)" "p.(Ala60Val)" "3"
"0000773777" "00001847" "70" "5044" "0" "5058" "0" "c.5044_5058del" "r.(?)" "p.(Val1682_Val1686del)" "36"
"0000773778" "00001847" "90" "454" "0" "454" "0" "c.454C>T" "r.(?)" "p.(Arg152*)" "5"
"0000773779" "00001847" "70" "6686" "0" "6686" "0" "c.6686T>C" "r.(?)" "p.(Leu2229Pro)" "48"
"0000773780" "00001847" "50" "6721" "0" "6721" "0" "c.6721C>G" "r.(?)" "p.(Leu2241Val)" "48"
"0000773781" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000773782" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000773783" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000773784" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000773785" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000773786" "00001847" "90" "66" "0" "66" "0" "c.66G>A" "r.(?)" "p.(=)" "1"
"0000773787" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000773788" "00001847" "50" "4771" "0" "4771" "0" "c.4771G>A" "r.(?)" "p.(Gly1591Arg)" "33"
"0000773789" "00001847" "50" "2819" "0" "2819" "0" "c.2819C>G" "r.(?)" "p.(Pro940Arg)" "19"
"0000773790" "00001847" "70" "5172" "0" "5172" "0" "c.5172G>T" "r.(?)" "p.(Trp1724Cys)" "36"
"0000773791" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000773792" "00001847" "70" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.[=,5196_5197ins5196+1140_5196+1212]" "p.[=,Met1733Glufs*78]" "36i"
"0000773793" "00001847" "70" "3050" "5" "3050" "5" "c.3050+5G>A" "r.2919_3050del" "p.(Leu973_His1017delinsPhe)" "20i"
"0000773794" "00001847" "50" "3758" "0" "3758" "0" "c.3758C>T" "r.(?)" "p.(Thr1253Met)" "25"
"0000773795" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000773796" "00001847" "70" "6146" "0" "6146" "0" "c.6146A>C" "r.(?)" "p.(Lys2049Thr)" "44"
"0000773797" "00001847" "50" "3862" "3" "3862" "3" "c.3862+3A>G" "r.[=,3814_3862del]" "p.[=,Ile1272Valfs*101]" "26i"
"0000773798" "00001847" "50" "3862" "3" "3862" "3" "c.3862+3A>G" "r.[=,3814_3862del]" "p.[=,Ile1272Valfs*101]" "26i"
"0000773799" "00001847" "50" "868" "0" "868" "0" "c.868C>T" "r.(?)" "p.(Arg290Trp)" "8"
"0000773800" "00001847" "50" "868" "0" "868" "0" "c.868C>T" "r.(?)" "p.(Arg290Trp)" "8"
"0000773801" "00001847" "70" "839" "0" "839" "0" "c.839T>G" "r.(?)" "p.(Met280Arg)" "7"
"0000773802" "00001847" "50" "5585" "-10" "5585" "-10" "c.5585-10T>C" "r.=" "p.(=)" "39i"
"0000773803" "00001847" "70" "839" "0" "839" "0" "c.839T>G" "r.(?)" "p.(Met280Arg)" "7"
"0000773804" "00001847" "50" "5077" "0" "5077" "0" "c.5077G>A" "r.(?)" "p.(Val1693Ile)" "36"
"0000773805" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000773806" "00001847" "70" "3364" "0" "3364" "0" "c.3364G>A" "r.(?)" "p.(Glu1122Lys)" "23"
"0000773807" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000773808" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000773809" "00001847" "70" "3204" "0" "3204" "0" "c.3204A>T" "r.(?)" "p.(Arg1068Ser)" "22"
"0000773810" "00001847" "70" "4793" "0" "4793" "0" "c.4793C>A" "r.(?)" "p.(Ala1598Asp)" "34"
"0000773811" "00001847" "70" "1015" "0" "1015" "0" "c.1015T>G" "r.(?)" "p.(Trp339Gly)" "8"
"0000773812" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000773813" "00001847" "90" "1240" "-2" "1240" "-2" "c.1240-2A>G" "r.spl" "p.?" "9i"
"0000773814" "00001847" "90" "5316" "0" "5316" "0" "c.5316G>A" "r.(?)" "p.(Trp1772*)" "38"
"0000773815" "00001847" "70" "3205" "0" "3205" "0" "c.3205A>C" "r.(?)" "p.(Lys1069Gln)" "22"
"0000773816" "00001847" "90" "6479" "1" "6479" "1" "c.6479+1G>A" "r.spl" "p.?" "47i"
"0000773817" "00001847" "90" "1957" "0" "1957" "0" "c.1957C>T" "r.(?)" "p.(Arg653Cys)" "14"
"0000773818" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000773819" "00001847" "50" "1029" "0" "1029" "0" "c.1029T>C" "r.(?)" "p.(Asn343=)" "8"
"0000773820" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000773821" "00001847" "70" "872" "0" "872" "0" "c.872C>T" "r.(?)" "p.(Pro291Leu)" "8"
"0000773822" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000773823" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.[(768g>u;768_769ins768+1_768+35)]" "p.(Leu257Valfs*17)" "6"
"0000773824" "00001847" "70" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" "44"
"0000773825" "00001847" "90" "3595" "0" "3595" "0" "c.3595C>T" "r.(?)" "p.(Gln1199*)" "24"
"0000773826" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.[(768g>u;768_769ins768+1_768+35)]" "p.(Leu257Valfs*17)" "6"
"0000773827" "00001847" "70" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" "31"
"0000773828" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.[(768g>u;768_769ins768+1_768+35)]" "p.(Leu257Valfs*17)" "6"
"0000773829" "00001847" "90" "454" "0" "454" "0" "c.454C>T" "r.(?)" "p.(Arg152*)" "5"
"0000773830" "00001847" "90" "5018" "2" "5018" "2" "c.5018+2T>C" "r.spl" "p.?" "35i"
"0000773831" "00001847" "90" "454" "0" "454" "0" "c.454C>T" "r.(?)" "p.(Arg152*)" "5"
"0000773832" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000773833" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000773834" "00001847" "30" "2588" "-12" "2588" "-12" "c.2588-12C>G" "r.=" "p.(=)" "16i"
"0000773835" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000773836" "00001847" "90" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973*)" "43"
"0000773837" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000773838" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000773839" "00001847" "50" "3758" "0" "3758" "0" "c.3758C>T" "r.(?)" "p.(Thr1253Met)" "25"
"0000773840" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000773841" "00001847" "50" "4771" "0" "4771" "0" "c.4771G>A" "r.(?)" "p.(Gly1591Arg)" "33"
"0000773842" "00001847" "70" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" "31"
"0000773843" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000773844" "00001847" "90" "1988" "0" "1988" "0" "c.1988G>A" "r.(?)" "p.(Trp663*)" "14"
"0000773845" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000773846" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000773847" "00001847" "90" "4667" "1" "4667" "1" "c.4667+1G>T" "r.spl" "p.?" "32i"
"0000773848" "00001847" "90" "1681" "0" "1681" "0" "c.1681del" "r.(?)" "p.(Ser561Alafs*7)" "12"
"0000773849" "00001847" "70" "3280" "0" "3280" "0" "c.3280C>A" "r.(?)" "p.(Pro1094Thr)" "22"
"0000773850" "00001847" "70" "4610" "0" "4610" "0" "c.4610C>T" "r.(?)" "p.(Thr1537Met)" "31"
"0000773851" "00001847" "90" "6480" "-1" "6480" "-1" "c.6480-1G>T" "r.spl" "p.?" "47i"
"0000773852" "00001847" "70" "6095" "0" "6095" "0" "c.6095A>G" "r.(?)" "p.(His2032Arg)" "44"
"0000773853" "00001847" "90" "4773" "1" "4773" "1" "c.4773+1G>T" "r.spl" "p.?" "33i"
"0000773854" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000773855" "00001847" "50" "5761" "0" "5761" "0" "c.5761G>A" "r.(?)" "p.(Val1921Met)" "41"
"0000773856" "00001847" "70" "983" "0" "983" "0" "c.983A>T" "r.(?)" "p.(Glu328Val)" "8"
"0000773857" "00001847" "70" "3106" "0" "3106" "0" "c.3106G>A" "r.(?)" "p.(Glu1036Lys)" "21"
"0000773858" "00001847" "70" "1642" "0" "1642" "0" "c.1642T>C" "r.(?)" "p.(Trp548Arg)" "12"
"0000773859" "00001847" "90" "3134" "0" "3135" "0" "c.3134_3135insA" "r.(?)" "p.(Met1045Ilefs*13)" "21"
"0000773860" "00001847" "50" "3777" "0" "3777" "0" "c.3777C>G" "r.(?)" "p.(Leu1259=)" "25"
"0000773861" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000773862" "00001847" "50" "6289" "0" "6289" "0" "c.6289C>T" "r.(?)" "p.(Pro2097Ser)" "46"
"0000773863" "00001847" "70" "6563" "0" "6563" "0" "c.6563T>C" "r.(?)" "p.(Phe2188Ser)" "48"
"0000773864" "00001847" "70" "6563" "0" "6563" "0" "c.6563T>C" "r.(?)" "p.(Phe2188Ser)" "48"
"0000773865" "00001847" "90" "1561" "0" "1561" "0" "c.1561del" "r.(?)" "p.(Val521Serfs*47)" "12"
"0000773866" "00001847" "70" "6563" "0" "6563" "0" "c.6563T>C" "r.(?)" "p.(Phe2188Ser)" "48"
"0000773867" "00001847" "70" "983" "0" "983" "0" "c.983A>T" "r.(?)" "p.(Glu328Val)" "8"
"0000773868" "00001847" "70" "3106" "0" "3106" "0" "c.3106G>A" "r.(?)" "p.(Glu1036Lys)" "8"
"0000773869" "00001847" "70" "3106" "0" "3106" "0" "c.3106G>A" "r.(?)" "p.(Glu1036Lys)" "21"
"0000773870" "00001847" "70" "71" "0" "71" "0" "c.71G>A" "r.(?)" "p.(Arg24His)" "2"
"0000773871" "00001847" "70" "5881" "0" "5881" "0" "c.5881G>A" "r.(?)" "p.(Gly1961Arg)" "42"
"0000773872" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000773873" "00001847" "70" "6563" "0" "6563" "0" "c.6563T>C" "r.(?)" "p.(Phe2188Ser)" "48"
"0000773874" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000773875" "00001847" "90" "6118" "0" "6118" "0" "c.6118C>T" "r.(?)" "p.(Arg2040*)" "44"
"0000773876" "00001847" "70" "3540" "0" "3540" "0" "c.3540G>A" "r.(?)" "p.(Ser1180=)" "24"
"0000773877" "00001847" "70" "3420" "0" "3420" "0" "c.3420C>G" "r.(?)" "p.(Cys1140Trp)" "23"
"0000773878" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000773879" "00001847" "70" "6563" "0" "6563" "0" "c.6563T>C" "r.(?)" "p.(Phe2188Ser)" "48"
"0000773880" "00001847" "70" "6283" "-3" "6283" "-3" "c.6283-3C>G" "r.(?)" "p.(?)" "45i"
"0000773881" "00001847" "90" "3898" "0" "3898" "0" "c.3898C>T" "r.(?)" "p.(Arg1300*)" "27"
"0000773882" "00001847" "70" "6563" "0" "6563" "0" "c.6563T>C" "r.(?)" "p.(Phe2188Ser)" "48"
"0000773883" "00001847" "70" "3364" "0" "3364" "0" "c.3364G>A" "r.(?)" "p.(Glu1122Lys)" "23"
"0000773884" "00001847" "90" "6118" "0" "6118" "0" "c.6118C>T" "r.(?)" "p.(Arg2040*)" "44"
"0000773885" "00001847" "70" "6730" "-9" "6765" "0" "c.6730-9_6765dup" "r.(?)" "p.(His2256_Asp2273delinsTyrLeu)" "48i/48"
"0000773886" "00001847" "70" "6050" "0" "6050" "0" "c.6050G>A" "r.(?)" "p.(Cys2017Tyr)" "44"
"0000773887" "00001847" "70" "6563" "0" "6563" "0" "c.6563T>C" "r.(?)" "p.(Phe2188Ser)" "48"
"0000773888" "00001847" "70" "6563" "0" "6563" "0" "c.6563T>C" "r.(?)" "p.(Phe2188Ser)" "48"
"0000773889" "00001847" "70" "5929" "0" "5929" "0" "c.5929G>A" "r.(?)" "p.(Gly1977Ser)" "43"
"0000773890" "00001847" "90" "4956" "0" "4956" "0" "c.4956T>G" "r.(?)" "p.(Tyr1652*)" "35"
"0000773891" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000773892" "00001847" "70" "6563" "0" "6563" "0" "c.6563T>C" "r.(?)" "p.(Phe2188Ser)" "48"
"0000773893" "00001847" "70" "3106" "0" "3106" "0" "c.3106G>A" "r.(?)" "p.(Glu1036Lys)" "21"
"0000773894" "00001847" "90" "1819" "0" "1819" "0" "c.1819G>C" "r.(?)" "p.(Gly607Arg)" "13"
"0000773895" "00001847" "70" "1597" "0" "1597" "0" "c.1597C>T" "r.(?)" "p.(Gln533*)" "12"
"0000773896" "00001847" "90" "5197" "-1" "5197" "-1" "c.5197-1G>A" "r.spl" "p.?" "36i"
"0000773897" "00001847" "70" "3420" "0" "3420" "0" "c.3420C>G" "r.(?)" "p.(Cys1140Trp)" "23"
"0000773898" "00001847" "70" "6563" "0" "6563" "0" "c.6563T>C" "r.(?)" "p.(Phe2188Ser)" "48"
"0000773899" "00001847" "90" "1819" "0" "1819" "0" "c.1819G>C" "r.(?)" "p.(Gly607Arg)" "13"
"0000773900" "00001847" "50" "101" "0" "106" "0" "c.101_106del" "r.(?)" "p.(Ser34_Leu35del)" "2"
"0000773901" "00001847" "90" "3334" "0" "3346" "0" "c.3334_3346del" "r.(?)" "p.(Thr1112Profs*32)" "23"
"0000773902" "00001847" "50" "101" "0" "106" "0" "c.101_106del" "r.(?)" "p.(Ser34_Leu35del)" "2"
"0000773903" "00001847" "50" "6119" "0" "6119" "0" "c.6119G>A" "r.(?)" "p.(Arg2040Gln)" "44"
"0000773904" "00001847" "70" "3420" "0" "3420" "0" "c.3420C>G" "r.(?)" "p.(Cys1140Trp)" "23"
"0000773905" "00001847" "70" "6068" "0" "6068" "0" "c.6068T>C" "r.(?)" "p.(Ile2023Thr)" "44"
"0000773906" "00001847" "90" "6106" "0" "6106" "0" "c.6106del" "r.(?)" "p.(Tyr2036Metfs*25)" "44"
"0000773907" "00001847" "70" "2918" "0" "2918" "0" "c.2918T>C" "r.(?)" "p.(Leu973Ser,?)" "19"
"0000773908" "00001847" "90" "6118" "0" "6118" "0" "c.6118C>T" "r.(?)" "p.(Arg2040*)" "44"
"0000773909" "00001847" "90" "6088" "0" "6088" "0" "c.6088C>T" "r.(?)" "p.(Arg2030*)" "44"
"0000773910" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000773911" "00001847" "70" "6448" "0" "6448" "0" "c.6448T>C" "r.(?)" "p.(Cys2150Arg)" "47"
"0000773912" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000773913" "00001847" "70" "4508" "0" "4508" "0" "c.4508C>T" "r.(?)" "p.(Pro1503Leu)" "30"
"0000773914" "00001847" "70" "3106" "0" "3106" "0" "c.3106G>A" "r.(?)" "p.(Glu1036Lys)" "21"
"0000773915" "00001847" "90" "978" "0" "978" "0" "c.978C>G" "r.(?)" "p.(Tyr326*)" "8"
"0000773916" "00001847" "90" "5172" "0" "5172" "0" "c.5172G>A" "r.(?)" "p.(Trp1724*)" "36"
"0000773917" "00001847" "90" "1937" "1" "1937" "1" "c.1937+1G>A" "r.spl" "p.?" "13i"
"0000773918" "00001847" "70" "6232" "0" "6232" "0" "c.6232A>G" "r.(?)" "p.(Lys2078Glu)" "45"
"0000773919" "00001847" "70" "4868" "0" "4868" "0" "c.4868G>T" "r.(?)" "p.(Gly1623Val)" "35"
"0000773920" "00001847" "90" "2919" "0" "2920" "0" "c.2919_2920insGCCAAACACAG" "r.(?)" "p.(Ser974Alafs*7)" "20"
"0000773921" "00001847" "70" "5327" "0" "5327" "0" "c.5327C>T" "r.(?)" "p.(Pro1776Leu)" "38"
"0000773922" "00001847" "70" "5929" "0" "5929" "0" "c.5929G>A" "r.(?)" "p.(Gly1977Ser)" "43"
"0000773923" "00001847" "70" "1648" "0" "1648" "0" "c.1648G>A" "r.(?)" "p.(Gly550Arg)" "12"
"0000773924" "00001847" "70" "6050" "0" "6050" "0" "c.6050G>A" "r.(?)" "p.(Cys2017Tyr)" "44"
"0000773925" "00001847" "90" "2919" "0" "2920" "0" "c.2919_2920insGCCAAACACAG" "r.(?)" "p.(Ser974Alafs*7)" "20"
"0000773926" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000773927" "00001847" "90" "5196" "1" "5196" "1" "c.5196+1G>A" "r.spl" "p.?" "36i"
"0000773928" "00001847" "70" "3106" "0" "3106" "0" "c.3106G>A" "r.(?)" "p.(Glu1036Lys)" "21"
"0000773929" "00001847" "70" "1597" "0" "1597" "0" "c.1597C>T" "r.(?)" "p.(Gln533*)" "12"
"0000773930" "00001847" "90" "6118" "0" "6118" "0" "c.6118C>T" "r.(?)" "p.(Arg2040*)" "44"
"0000773931" "00001847" "70" "4113" "0" "4113" "0" "c.4113G>T" "r.(?)" "p.(Lys1371Asn)" "27"
"0000773932" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000773933" "00001847" "70" "6112" "0" "6112" "0" "c.6112C>T" "r.(?)" "p.(Arg2038Trp)" "44"
"0000773934" "00001847" "70" "5318" "0" "5318" "0" "c.5318C>T" "r.(?)" "p.(Ala1773Val)" "38"
"0000773935" "00001847" "50" "4102" "0" "4102" "0" "c.4102C>T" "r.(?)" "p.(Arg1368Cys)" "27"
"0000773936" "00001847" "90" "6088" "0" "6088" "0" "c.6088C>T" "r.(?)" "p.(Arg2030*)" "44"
"0000773937" "00001847" "90" "3281" "0" "3281" "0" "c.3281del" "r.(?)" "p.(Pro1094Leufs*12)" "22"
"0000773938" "00001847" "90" "2424" "0" "2424" "0" "c.2424C>G" "r.(?)" "p.(Tyr808*)" "16"
"0000773939" "00001847" "70" "67" "-16" "67" "-16" "c.67-16T>A" "r.spl?" "p.(?)" "1i"
"0000773940" "00001847" "70" "5646" "0" "5646" "0" "c.5646G>A" "r.(?)" "p.(Met1882Ile)" "40"
"0000773941" "00001847" "90" "1017" "0" "1017" "0" "c.1017G>A" "r.(?)" "p.(Trp339*)" "8"
"0000773942" "00001847" "70" "983" "0" "983" "0" "c.983A>T" "r.(?)" "p.(Glu328Val)" "8"
"0000773943" "00001847" "70" "3106" "0" "3106" "0" "c.3106G>A" "r.(?)" "p.(Glu1036Lys)" "21"
"0000773944" "00001847" "90" "319" "0" "319" "0" "c.319C>T" "r.(?)" "p.(Arg107*)" "4"
"0000773945" "00001847" "70" "6127" "0" "6127" "0" "c.6127C>T" "r.(?)" "p.(Pro2043Ser)" "44"
"0000773946" "00001847" "90" "1761" "-2" "1761" "-2" "c.1761-2A>G" "r.spl" "p.?" "13"
"0000773947" "00001847" "90" "652" "0" "652" "0" "c.652C>T" "r.(?)" "p.(Gln218*)" "6"
"0000773948" "00001847" "70" "1906" "0" "1906" "0" "c.1906C>A" "r.(?)" "p.(Gln636Lys)" "13"
"0000773949" "00001847" "90" "4436" "0" "4436" "0" "c.4436G>A" "r.(?)" "p.(Trp1479*)" "30"
"0000773950" "00001847" "70" "4508" "0" "4508" "0" "c.4508C>T" "r.(?)" "p.(Pro1503Leu)" "30"
"0000773951" "00001847" "70" "1597" "0" "1597" "0" "c.1597C>T" "r.(?)" "p.(Gln533*)" "12"
"0000773952" "00001847" "70" "872" "0" "872" "0" "c.872C>T" "r.(?)" "p.(Pro291Leu)" "8"
"0000773953" "00001847" "90" "6006" "-1" "6006" "-1" "c.6006-1G>A" "r.spl" "p.?" "43i"
"0000773954" "00001847" "70" "1982" "0" "1982" "0" "c.1982T>G" "r.(?)" "p.(Leu661Arg)" "14"
"0000773955" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000773956" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000773957" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000773958" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000773959" "00001847" "50" "4773" "48" "4773" "48" "c.4773+48C>T" "r.(?)" "p.(?)" "33i"
"0000773960" "00001847" "50" "5682" "0" "5682" "0" "c.5682G>C" "r.(?)" "p.(=)" "40"
"0000773961" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000773962" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000773963" "00001847" "70" "1715" "0" "1715" "0" "c.1715G>A" "r.(?)" "p.(Arg572Gln)" "12"
"0000773964" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>A" "r.(?)" "p.(Gly863Glu)" "17"
"0000773965" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000773966" "00001847" "70" "5549" "0" "5549" "0" "c.5549T>C" "r.(?)" "p.(Leu1850Pro)" "39"
"0000773967" "00001847" "50" "4771" "0" "4771" "0" "c.4771G>A" "r.(?)" "p.(Gly1591Arg)" "33"
"0000773968" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000773969" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000773970" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000773971" "00001847" "90" "4234" "0" "4234" "0" "c.4234C>T" "r.(?)" "p.(Gln1412*)" "28"
"0000773972" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000773973" "00001847" "70" "4873" "0" "4873" "0" "c.4873C>T" "r.(?)" "p.(His1625Tyr)" "35"
"0000773974" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000773975" "00001847" "50" "656" "0" "656" "0" "c.656G>C" "r.(?)" "p.(Arg219Thr)" "6"
"0000773976" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000773977" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000773978" "00001847" "90" "4234" "0" "4234" "0" "c.4234C>T" "r.(?)" "p.(Gln1412*)" "28"
"0000773979" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000773980" "00001847" "50" "5693" "0" "5693" "0" "c.5693G>A" "r.(?)" "p.(Arg1898His)" "40"
"0000773981" "00001847" "90" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973*)" "43"
"0000773982" "00001847" "50" "4297" "0" "4297" "0" "c.4297G>A" "r.(?)" "p.(Val1433Ile)" "29"
"0000773983" "00001847" "70" "6326" "0" "6326" "0" "c.6326T>C" "r.(?)" "p.(Leu2109Pro)" "46"
"0000773984" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000773985" "00001847" "70" "5929" "0" "5929" "0" "c.5929G>A" "r.(?)" "p.(Gly1977Ser)" "43"
"0000773988" "00001847" "90" "45" "0" "45" "0" "c.45G>A" "r.(?)" "p.(Trp15*)" "1"
"0000773989" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000773990" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000773991" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000773992" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000773993" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000773994" "00001847" "90" "1903" "0" "1903" "0" "c.1903C>T" "r.(?)" "p.(Gln635*)" "13"
"0000773995" "00001847" "70" "2300" "0" "2300" "0" "c.2300T>A" "r.(?)" "p.(Val767Asp)" "15"
"0000773996" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000773997" "00001847" "90" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973*)" "43"
"0000773998" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000773999" "00001847" "70" "5929" "0" "5929" "0" "c.5929G>A" "r.(?)" "p.(Gly1977Ser)" "43"
"0000774000" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000774001" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000774002" "00001847" "70" "4347" "0" "4347" "0" "c.4347G>T" "r.(?)" "p.(Trp1449Cys)" "29"
"0000774003" "00001847" "90" "1584" "0" "1584" "0" "c.1584C>A" "r.(?)" "p.(Tyr528*)" "12"
"0000774004" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000774005" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000774006" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000774007" "00001847" "90" "1937" "1" "1937" "1" "c.1937+1G>A" "r.spl" "p.?" "8i"
"0000774008" "00001847" "70" "1009" "0" "1009" "0" "c.1009T>C" "r.(?)" "p.(Phe337Leu)" "8"
"0000774009" "00001847" "70" "5059" "0" "5059" "0" "c.5059A>T" "r.(?)" "p.(Ile1687Phe)" "36"
"0000774010" "00001847" "70" "3243" "0" "3243" "0" "c.3243G>T" "r.(?)" "p.(Lys1081Asn)" "22"
"0000774011" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000774012" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000774013" "00001847" "90" "5196" "2" "5196" "2" "c.5196+2T>C" "r.spl" "p.?" "36i"
"0000774014" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000774015" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000774016" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000774017" "00001847" "90" "6419" "0" "6419" "0" "c.6419T>G" "r.(?)" "p.(Leu2140Gln)" "47"
"0000774018" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000774021" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000774022" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000774023" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000774024" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000774025" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000774026" "00001847" "70" "1891" "0" "1891" "0" "c.1891G>A" "r.(?)" "p.(Gly631Arg)" "13"
"0000774027" "00001847" "70" "6545" "0" "6580" "0" "c.6545_6580del" "r.(?)" "p.(Leu2182_Phe2193del)" "48"
"0000774028" "00001847" "70" "4462" "0" "4462" "0" "c.4462T>C" "r.(?)" "p.(Cys1488Arg)" "30"
"0000774029" "00001847" "90" "3261" "0" "3261" "0" "c.3261A>C" "r.(?)" "p.(Glu1087Asp)" "22"
"0000774030" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000774031" "00001847" "90" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973*)" "43"
"0000774032" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000774033" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000774034" "00001847" "70" "872" "0" "872" "0" "c.872C>T" "r.(?)" "p.(Pro291Leu)" "8"
"0000774035" "00001847" "90" "6310" "0" "6310" "0" "c.6310dup" "r.(?)" "p.(Gln2104Profs*31)" "46"
"0000774036" "00001847" "70" "1523" "0" "1523" "0" "c.1523G>C" "r.(?)" "p.(Arg508Pro)" "11"
"0000774037" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000774038" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000774039" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000774040" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000774041" "00001847" "50" "4771" "0" "4771" "0" "c.4771G>A" "r.(?)" "p.(Gly1591Arg)" "33"
"0000774042" "00001847" "90" "4234" "0" "4234" "0" "c.4234C>T" "r.(?)" "p.(Gln1412*)" "28"
"0000774043" "00001847" "70" "4463" "0" "4463" "0" "c.4463G>A" "r.(?)" "p.(Cys1488Tyr)" "30"
"0000774044" "00001847" "50" "6148" "0" "6148" "0" "c.6148G>C" "r.=" "p.(Val2050Leu)" "45"
"0000774045" "00001847" "50" "6148" "0" "6148" "0" "c.6148G>C" "r.=" "p.(Val2050Leu)" "45"
"0000774046" "00001847" "90" "454" "0" "454" "0" "c.454C>T" "r.(?)" "p.(Arg152*)" "5"
"0000774047" "00001847" "70" "5381" "0" "5381" "0" "c.5381C>A" "r.(?)" "p.(Ala1794Asp)" "38"
"0000774048" "00001847" "70" "6229" "0" "6229" "0" "c.6229C>T" "r.(?)" "p.(Arg2077Trp)" "45"
"0000774049" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000774050" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000774051" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000774052" "00001847" "10" "1268" "0" "1268" "0" "c.1268A>G" "r.(?)" "p.(His423Arg)" "9"
"0000774053" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000774054" "00001847" "70" "6729" "5" "6729" "19" "c.6729+5_6729+19del" "r.6480_6729del" "p.(Phe2161Cysfs*3)" "48i"
"0000774055" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000774056" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000774057" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000774058" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000774059" "00001847" "50" "4685" "0" "4685" "0" "c.4685T>C" "r.(?)" "p.(Ile1562Thr)" "33"
"0000774060" "00001847" "90" "4458" "0" "4458" "0" "c.4458del" "r.(?)" "p.(Ser1487Profs*39)" "30"
"0000774061" "00001847" "70" "5329" "0" "5329" "0" "c.5329A>T" "r.(?)" "p.(Met1777Leu)" "38"
"0000774062" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000774063" "00001847" "70" "1531" "0" "1531" "0" "c.1531C>T" "r.(?)" "p.(Arg511Cys)" "11"
"0000774064" "00001847" "70" "3482" "0" "3482" "0" "c.3482G>A" "r.(?)" "p.(Arg1161His)" "23"
"0000774065" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000774066" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000774067" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000774068" "00001847" "70" "694" "0" "694" "0" "c.694C>T" "r.(?)" "p.(Leu232Phe)" "6"
"0000774069" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000774070" "00001847" "90" "3085" "0" "3085" "0" "c.3085C>T" "r.(?)" "p.(Gln1029*)" "21"
"0000774071" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000774072" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000774073" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000774074" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000774075" "00001847" "70" "5645" "0" "5645" "0" "c.5645T>C" "r.(?)" "p.(Met1882Thr)" "40"
"0000774076" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000774077" "00001847" "50" "1928" "0" "1928" "0" "c.1928T>G" "r.(?)" "p.(Val643Gly)" "13"
"0000774078" "00001847" "70" "5329" "0" "5329" "0" "c.5329A>T" "r.(?)" "p.(Met1777Leu)" "38"
"0000774079" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000774080" "00001847" "70" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.[=,5196_5197ins5196+1140_5196+1212]" "p.[=,Met1733Glufs*78]" "36i"
"0000774081" "00001847" "70" "5329" "0" "5329" "0" "c.5329A>T" "r.(?)" "p.(Met1777Leu)" "38"
"0000774082" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000774083" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000774084" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000774085" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000774086" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000774087" "00001847" "90" "6118" "0" "6118" "0" "c.6118C>T" "r.(?)" "p.(Arg2040*)" "44"
"0000774088" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000774089" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000774090" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000774091" "00001847" "70" "3089" "0" "3089" "0" "c.3089T>A" "r.=" "p.(=)" "21"
"0000774092" "00001847" "90" "1035" "0" "1036" "0" "c.1035_1036delinsAT" "r.(?)" "p.(Tyr345*)" "8"
"0000774093" "00001847" "70" "6449" "0" "6449" "0" "c.6449G>A" "r.(?)" "p.(Cys2150Tyr)" "47"
"0000774094" "00001847" "90" "571" "-2" "571" "-2" "c.571-2A>T" "r.spl" "p.?" "5i"
"0000774095" "00001847" "70" "4417" "0" "4417" "0" "c.4417C>A" "r.(?)" "p.(Leu1473Met)" "30"
"0000774096" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000774097" "00001847" "50" "1245" "0" "1245" "0" "c.1245C>A" "r.(?)" "p.(Asn415Lys)" "10"
"0000774098" "00001847" "90" "3056" "0" "3056" "0" "c.3056C>T" "r.(?)" "p.(Thr1019Met)" "21"
"0000774099" "00001847" "90" "3531" "0" "3531" "0" "c.3531C>A" "r.(?)" "p.(Cys1177*)" "24"
"0000774100" "00001847" "70" "3323" "0" "3323" "0" "c.3323G>A" "r.(?)" "p.(Arg1108His)" "22"
"0000774101" "00001847" "50" "4297" "0" "4297" "0" "c.4297G>A" "r.(?)" "p.(Val1433Ile)" "29"
"0000774102" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000774103" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000774104" "00001847" "90" "4234" "0" "4234" "0" "c.4234C>T" "r.(?)" "p.(Gln1412*)" "28"
"0000774105" "00001847" "90" "571" "-2" "571" "-2" "c.571-2A>T" "r.spl" "p.?" "5i"
"0000774106" "00001847" "70" "5512" "0" "5512" "0" "c.5512C>A" "r.(?)" "p.(His1838Asn)" "39"
"0000774107" "00001847" "70" "4128" "0" "4128" "0" "c.4128G>A" "r.4128_4129ins4128+1_4128+12" "p.(Gln1376_Ile1377insValLeuLeuSer)" "27"
"0000774108" "00001847" "70" "4417" "0" "4417" "0" "c.4417C>A" "r.(?)" "p.(Leu1473Met)" "30"
"0000774109" "00001847" "70" "6446" "0" "6446" "0" "c.6446G>T" "r.(?)" "p.(Arg2149Leu)" "47"
"0000774110" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000774111" "00001847" "50" "5692" "0" "5692" "0" "c.5692C>T" "r.(?)" "p.(Arg1898Cys)" "40"
"0000774112" "00001847" "50" "2791" "0" "2791" "0" "c.2791G>A" "r.(?)" "p.(Val931Met)" "19"
"0000774113" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000774114" "00001847" "50" "2791" "0" "2791" "0" "c.2791G>A" "r.(?)" "p.(Val931Met)" "19"
"0000774115" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000774116" "00001847" "70" "5417" "0" "5417" "0" "c.5417G>A" "r.(?)" "p.(Ser1806Asn)" "38"
"0000774117" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000774118" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000774119" "00001847" "70" "2105" "0" "2105" "0" "c.2105T>C" "r.(?)" "p.(Leu702Pro)" "14"
"0000774120" "00001847" "70" "2743" "0" "2743" "0" "c.2743G>A" "r.spl?" "p.(Asp915Asn,?)" "18"
"0000774121" "00001847" "70" "5898" "5" "5898" "5" "c.5898+5del" "r.[5898_5899ins[gugg;5898+6_5890-1],5898_5899ins[gugg;5898+6_5899+170]]" "p.(Cys1967Valfs*24)" "42i"
"0000774122" "00001847" "70" "5898" "5" "5898" "5" "c.5898+5del" "r.[5898_5899ins[gugg;5898+6_5890-1],5898_5899ins[gugg;5898+6_5899+170]]" "p.(Cys1967Valfs*24)" "42i"
"0000774123" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000774124" "00001847" "90" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973*)" "43"
"0000774125" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000774126" "00001847" "90" "4539" "2064" "4539" "2064" "c.4539+2064C>T" "r.[=,4539_4540ins4539+1891_4540-2162]" "p.[=,Arg1514Leufs*36]" "30i"
"0000774127" "00001847" "90" "5888" "0" "5888" "0" "c.5888del" "r.(?)" "p.(Arg1963Profs*11)" "42"
"0000774128" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000774129" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000774130" "00001847" "70" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.[=,5196_5197ins5196+1140_5196+1212]" "p.[=,Met1733Glufs*78]" "36i"
"0000774131" "00001847" "70" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.[=,5196_5197ins5196+1140_5196+1212]" "p.[=,Met1733Glufs*78]" "36i"
"0000774132" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000774133" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000774134" "00001847" "70" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.[=,5196_5197ins5196+1140_5196+1212]" "p.[=,Met1733Glufs*78]" "36i"
"0000774135" "00001847" "70" "5914" "0" "5914" "0" "c.5914G>A" "r.(?)" "p.(Gly1972Arg)" "43"
"0000774136" "00001847" "70" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.[=,5196_5197ins5196+1140_5196+1212]" "p.[=,Met1733Glufs*78]" "36i"
"0000774137" "00001847" "90" "4539" "2064" "4539" "2064" "c.4539+2064C>T" "r.[=,4539_4540ins4539+1891_4540-2162]" "p.[=,Arg1514Leufs*36]" "30i"
"0000774138" "00001847" "70" "4253" "43" "4253" "43" "c.4253+43G>A" "r.[=,4129_4253del]" "p.[=,Ile1377Hisfs*3]" "28i"
"0000774139" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000774140" "00001847" "70" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.[=,5196_5197ins5196+1140_5196+1212]" "p.[=,Met1733Glufs*78]" "36i"
"0000774141" "00001847" "90" "6339" "0" "6339" "0" "c.6339C>G" "r.(?)" "p.(Ile2113Met)" "46"
"0000774142" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000774143" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000774144" "00001847" "70" "5929" "0" "5929" "0" "c.5929G>A" "r.(?)" "p.(Gly1977Ser)" "43"
"0000774145" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000774146" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000774147" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000774148" "00001847" "70" "5923" "0" "5923" "0" "c.5923G>C" "r.(?)" "p.(Gly1975Arg)" "43"
"0000774149" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000774150" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000774151" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000774152" "00001847" "50" "5692" "0" "5692" "0" "c.5692C>T" "r.(?)" "p.(Arg1898Cys)" "40"
"0000774153" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000774154" "00001847" "50" "5065" "0" "5065" "0" "c.5065T>C" "r.(?)" "p.(Ser1689Pro)" "36"
"0000774155" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000774156" "00001847" "50" "5242" "0" "5242" "0" "c.5242G>A" "r.(?)" "p.(Gly1748Arg)" "37"
"0000774157" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000774158" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000774159" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000774160" "00001847" "70" "5929" "0" "5929" "0" "c.5929G>A" "r.(?)" "p.(Gly1977Ser)" "43"
"0000774161" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000774162" "00001847" "70" "6229" "0" "6229" "0" "c.6229C>T" "r.(?)" "p.(Arg2077Trp)" "45"
"0000774163" "00001847" "90" "4234" "0" "4234" "0" "c.4234C>T" "r.(?)" "p.(Gln1412*)" "28"
"0000774164" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000774165" "00001847" "90" "5018" "2" "5018" "2" "c.5018+2T>A" "r.spl" "p.?" "35i"
"0000774166" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000774167" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000774168" "00001847" "70" "2876" "0" "2876" "0" "c.2876C>T" "r.(?)" "p.(Thr959Ile)" "19"
"0000774169" "00001847" "90" "5248" "0" "5248" "0" "c.5248C>T" "r.(?)" "p.(Gln1750*)" "37"
"0000774170" "00001847" "90" "5248" "0" "5248" "0" "c.5248C>T" "r.(?)" "p.(Gln1750*)" "37"
"0000774171" "00001847" "50" "5653" "0" "5653" "0" "c.5653G>A" "r.(?)" "p.(Glu1885Lys)" "40"
"0000774172" "00001847" "70" "2915" "0" "2915" "0" "c.2915C>A" "r.(?)" "p.(Thr972Asn)" "19"
"0000774173" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000774174" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000774175" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000774176" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000774177" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000774178" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000774179" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000774180" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000774181" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000774182" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000774183" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000774184" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000774185" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000774186" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000774187" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000774188" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000774189" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000774190" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000774191" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000774192" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000774193" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000774194" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000774195" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000774196" "00001847" "90" "3056" "0" "3056" "0" "c.3056C>T" "r.(?)" "p.(Thr1019Met)" "21"
"0000774197" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000774198" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000774199" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000774200" "00001847" "70" "3323" "0" "3323" "0" "c.3323G>A" "r.(?)" "p.(Arg1108His)" "22"
"0000774201" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000774202" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000774203" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000774204" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000774205" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000774206" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000774207" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000774208" "00001847" "90" "3056" "0" "3056" "0" "c.3056C>T" "r.(?)" "p.(Thr1019Met)" "21"
"0000774209" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000774210" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000774211" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000774212" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000774213" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000774214" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000774215" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000774216" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000774217" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000774218" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000774219" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000774220" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000774221" "00001847" "90" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973*)" "43"
"0000774222" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000774223" "00001847" "90" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973*)" "43"
"0000774224" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000774225" "00001847" "70" "4594" "0" "4594" "0" "c.4594G>A" "r.(?)" "p.(Asp1532Asn)" "31"
"0000774226" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000774227" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000774228" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000774229" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000774230" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000774231" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000774232" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000774233" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000774234" "00001847" "90" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973*)" "43"
"0000774235" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000774236" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000774237" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000774238" "00001847" "90" "769" "-1" "769" "-1" "c.769-1G>T" "r.spl" "p.?" "6i"
"0000774239" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000774240" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000774241" "00001847" "70" "3607" "0" "3607" "0" "c.3607G>A" "r.3523_3607del" "p.(Thr1176Metfs*2)" "24"
"0000774242" "00001847" "70" "3607" "0" "3607" "0" "c.3607G>A" "r.3523_3607del" "p.(Thr1176Metfs*2)" "24"
"0000774243" "00001847" "70" "3607" "0" "3607" "0" "c.3607G>A" "r.3523_3607del" "p.(Thr1176Metfs*2)" "24"
"0000774244" "00001847" "70" "3607" "0" "3607" "0" "c.3607G>A" "r.3523_3607del" "p.(Thr1176Metfs*2)" "24"
"0000774245" "00001847" "10" "2828" "0" "2828" "0" "c.2828G>A" "r.(?)" "p.(Arg943Gln)" "19"
"0000774246" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000774247" "00001847" "70" "5819" "0" "5819" "0" "c.5819T>C" "r.(?)" "p.(Leu1940Pro)" "41"
"0000774248" "00001847" "50" "5114" "0" "5114" "0" "c.5114G>A" "r.(?)" "p.(Arg1705Gln)" "36"
"0000774249" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000774250" "00001847" "50" "455" "0" "455" "0" "c.455G>A" "r.(?)" "p.(Arg152Gln)" "5"
"0000774251" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000774252" "00001847" "10" "3899" "0" "3899" "0" "c.3899G>A" "r.(?)" "p.(Arg1300Gln)" "27"
"0000774253" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000774254" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000774255" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000774256" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000774257" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000774258" "00001847" "10" "2828" "0" "2828" "0" "c.2828G>A" "r.(?)" "p.(Arg943Gln)" "19"
"0000774259" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000774260" "00001847" "70" "5923" "0" "5923" "0" "c.5923G>C" "r.(?)" "p.(Gly1975Arg)" "43"
"0000774261" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000774262" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000774263" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000774264" "00001847" "50" "5065" "0" "5065" "0" "c.5065T>C" "r.(?)" "p.(Ser1689Pro)" "36"
"0000774265" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000774266" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000774267" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000774268" "00001847" "70" "5810" "0" "5810" "0" "c.5810T>C" "r.(?)" "p.(Ile1937Thr)" "41"
"0000774269" "00001847" "70" "5171" "0" "5171" "0" "c.5171G>T" "r.(?)" "p.(Trp1724Leu)" "36"
"0000774270" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000774271" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000774272" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000774273" "00001847" "70" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" "44"
"0000774274" "00001847" "70" "5087" "0" "5087" "0" "c.5087G>A" "r.(?)" "p.(Ser1696Asn)" "36"
"0000774275" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000774276" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000774277" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000774278" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000774279" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000774280" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000774281" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000774282" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000774283" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000774284" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000774285" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000774286" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000774287" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000774288" "00001847" "50" "4926" "0" "4926" "0" "c.4926C>G" "r.(?)" "p.(Ser1642Arg)" "35"
"0000774289" "00001847" "50" "4926" "0" "4926" "0" "c.4926C>G" "r.(?)" "p.(Ser1642Arg)" "35"
"0000774290" "00001847" "50" "4926" "0" "4926" "0" "c.4926C>G" "r.(?)" "p.(Ser1642Arg)" "35"
"0000774291" "00001847" "50" "4926" "0" "4926" "0" "c.4926C>G" "r.(?)" "p.(Ser1642Arg)" "35"
"0000774292" "00001847" "50" "4926" "0" "4926" "0" "c.4926C>G" "r.(?)" "p.(Ser1642Arg)" "35"
"0000774293" "00001847" "10" "2828" "0" "2828" "0" "c.2828G>A" "r.(?)" "p.(Arg943Gln)" "19"
"0000774294" "00001847" "70" "3163" "0" "3163" "0" "c.3163C>T" "r.(?)" "p.(Arg1055Trp)" "21"
"0000774295" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000774296" "00001847" "70" "2285" "0" "2285" "0" "c.2285C>A" "r.(?)" "p.(Ala762Glu)" "15"
"0000774297" "00001847" "70" "5172" "0" "5172" "0" "c.5172G>T" "r.(?)" "p.(Trp1724Cys)" "36"
"0000774298" "00001847" "70" "4880" "0" "4903" "0" "c.4880_4903dup" "r.(?)" "p.(Leu1627_Ala1634dup)" "35"
"0000774299" "00001847" "70" "6176" "0" "6176" "0" "c.6176G>C" "r.(?)" "p.(Gly2059Ala)" "45"
"0000774300" "00001847" "50" "656" "0" "656" "0" "c.656G>C" "r.(?)" "p.(Arg219Thr)" "6"
"0000774301" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000774302" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000774303" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000774304" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000774305" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000774306" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000774307" "00001847" "70" "6545" "0" "6580" "0" "c.6545_6580del" "r.(?)" "p.(Leu2182_Phe2193del)" "48"
"0000774308" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000774309" "00001847" "50" "1654" "0" "1654" "0" "c.1654G>A" "r.(?)" "p.(Val552Ile)" "12"
"0000774310" "00001847" "70" "6449" "0" "6449" "0" "c.6449G>A" "r.(?)" "p.(Cys2150Tyr)" "47"
"0000774311" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000774312" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000774313" "00001847" "70" "5087" "0" "5087" "0" "c.5087G>A" "r.(?)" "p.(Ser1696Asn)" "36"
"0000774314" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000774315" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000774316" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000774317" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000774318" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000774319" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000774320" "00001847" "10" "6282" "7" "6282" "7" "c.6282+7G>A" "r.(?)" "p.(?)" "45i"
"0000774321" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000774322" "00001847" "90" "4537" "0" "4537" "0" "c.4537dup" "r.(?)" "p.(Gln1513Profs*42)" "30"
"0000774323" "00001847" "70" "4222" "0" "4222" "0" "c.4222T>C" "r.(?)" "p.(Trp1408Arg)" "28"
"0000774324" "00001847" "70" "161" "0" "161" "0" "c.161G>A" "r.[161_302del,161g>a]" "p.[Cys54Serfs*14,Cys54Tyr]" "3"
"0000774325" "00001847" "70" "2300" "0" "2300" "0" "c.2300T>A" "r.(?)" "p.(Val767Asp)" "15"
"0000774326" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000774327" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000774328" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000774329" "00001847" "90" "570" "1" "570" "1" "c.570+1G>C" "r.spl" "p.?" "5i"
"0000774330" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000774331" "00001847" "70" "6319" "0" "6321" "0" "c.6319_6321delinsAAA" "r.(?)" "p.(Arg2107Lys)" "46"
"0000774332" "00001847" "10" "6764" "0" "6764" "0" "c.6764G>T" "r.(?)" "p.(Ser2255Ile)" "49"
"0000774333" "00001847" "70" "1100" "-9" "1100" "-9" "c.1100-9T>C" "r.(spl)" "p.?" "8i"
"0000774334" "00001847" "50" "1037" "0" "1037" "0" "c.1037A>C" "r.(?)" "p.(Lys346Thr)" "8"
"0000774335" "00001847" "90" "700" "0" "700" "0" "c.700C>T" "r.(?)" "p.(Gln234*)" "6"
"0000774336" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000774337" "00001847" "50" "1411" "0" "1411" "0" "c.1411G>A" "r.(?)" "p.(Glu471Lys)" "11"
"0000774338" "00001847" "10" "6764" "0" "6764" "0" "c.6764G>T" "r.(?)" "p.(Ser2255Ile)" "49"
"0000774339" "00001847" "10" "6764" "0" "6764" "0" "c.6764G>T" "r.(?)" "p.(Ser2255Ile)" "49"
"0000774340" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000774341" "00001847" "70" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" "31"
"0000774342" "00001847" "50" "656" "0" "656" "0" "c.656G>C" "r.(?)" "p.(Arg219Thr)" "6"
"0000774343" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000774344" "00001847" "50" "1411" "0" "1411" "0" "c.1411G>A" "r.(?)" "p.(Glu471Lys)" "11"
"0000774345" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000774346" "00001847" "70" "2617" "0" "2617" "0" "c.2617T>A" "r.(?)" "p.(Phe873Ile)" "17"
"0000774347" "00001847" "90" "5898" "1" "5898" "1" "c.5898+1G>A" "r.spl" "p.?" "42i"
"0000774348" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000774349" "00001847" "10" "6764" "0" "6764" "0" "c.6764G>T" "r.(?)" "p.(Ser2255Ile)" "49"
"0000774350" "00001847" "50" "5413" "0" "5413" "0" "c.5413A>G" "r.(?)" "p.(Asn1805Asp)" "38"
"0000774351" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000774352" "00001847" "70" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" "44"
"0000774353" "00001847" "90" "6166" "0" "6166" "0" "c.6166A>T" "r.(?)" "p.(Lys2056*)" "45"
"0000774354" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000774355" "00001847" "70" "194" "0" "194" "0" "c.194G>A" "r.(?)" "p.(Gly65Glu)" "3"
"0000774356" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000774357" "00001847" "70" "4253" "5" "4253" "5" "c.4253+5G>T" "r.[4129_4253del,=]" "p.[Ile1377Hisfs*3,=]" "28i"
"0000774358" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000774359" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000774360" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000774361" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000774362" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000774363" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000774364" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000774365" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000774366" "00001847" "70" "2552" "0" "2552" "0" "c.2552G>A" "r.(?)" "p.(Gly851Asp)" "16"
"0000774367" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000774368" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000774369" "00001847" "70" "5537" "0" "5537" "0" "c.5537T>C" "r.(?)" "p.(Ile1846Thr)" "39"
"0000774370" "00001847" "70" "5087" "0" "5087" "0" "c.5087G>A" "r.(?)" "p.(Ser1696Asn)" "36"
"0000774371" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000774372" "00001847" "90" "318" "0" "318" "0" "c.318T>G" "r.(?)" "p.(Tyr106*)" "4"
"0000774373" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000774374" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000774375" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000774376" "00001847" "70" "6229" "0" "6229" "0" "c.6229C>T" "r.(?)" "p.(Arg2077Trp)" "45"
"0000774377" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000774378" "00001847" "70" "6449" "0" "6449" "0" "c.6449G>A" "r.(?)" "p.(Cys2150Tyr)" "47"
"0000774379" "00001847" "70" "5646" "0" "5646" "0" "c.5646G>A" "r.(?)" "p.(Met1882Ile)" "40"
"0000774380" "00001847" "50" "5077" "0" "5077" "0" "c.5077G>A" "r.(?)" "p.(Val1693Ile)" "36"
"0000774381" "00001847" "70" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" "35"
"0000774382" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000774383" "00001847" "70" "2461" "0" "2461" "0" "c.2461T>A" "r.(?)" "p.(Trp821Arg)" "16"
"0000774384" "00001847" "70" "4253" "5" "4253" "5" "c.4253+5G>T" "r.[4129_4253del,=]" "p.[Ile1377Hisfs*3,=]" "28i"
"0000774385" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000774386" "00001847" "70" "203" "0" "203" "0" "c.203C>G" "r.(?)" "p.(Pro68Arg)" "3"
"0000774387" "00001847" "50" "5114" "0" "5114" "0" "c.5114G>A" "r.(?)" "p.(Arg1705Gln)" "36"
"0000774388" "00001847" "70" "4253" "5" "4253" "5" "c.4253+5G>T" "r.[4129_4253del,=]" "p.[Ile1377Hisfs*3,=]" "28i"
"0000774389" "00001847" "70" "2461" "0" "2461" "0" "c.2461T>A" "r.(?)" "p.(Trp821Arg)" "16"
"0000774390" "00001847" "90" "5018" "2" "5018" "2" "c.5018+2T>C" "r.spl" "p.?" "35i"
"0000774391" "00001847" "70" "4978" "0" "4978" "0" "c.4978C>T" "r.(?)" "p.(Pro1660Ser)" "35"
"0000774392" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000774393" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000774394" "00001847" "70" "769" "-1" "858" "1" "c.(768+1_769-1)_(858+1_859-1)del" "r.(?)" "p.(?)" "6i_7i"
"0000774395" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000774396" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000774397" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000774398" "00001847" "50" "5313" "-10" "5313" "-10" "c.5313-10T>C" "r.(?)" "p.(?)" "37i"
"0000774399" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.[(768g>u;768_769ins768+1_768+35)]" "p.(Leu257Valfs*17)" "6"
"0000774400" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.[(768g>u;768_769ins768+1_768+35)]" "p.(Leu257Valfs*17)" "6"
"0000774401" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000774402" "00001847" "90" "5762" "0" "5763" "0" "c.5762_5763dup" "r.(?)" "p.(Ala1922Trpfs*18)" "41"
"0000774403" "00001847" "70" "6449" "0" "6449" "0" "c.6449G>A" "r.(?)" "p.(Cys2150Tyr)" "47"
"0000774404" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000774405" "00001847" "90" "6088" "0" "6088" "0" "c.6088C>T" "r.(?)" "p.(Arg2030*)" "44"
"0000774406" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000774407" "00001847" "90" "3328" "1" "3328" "1" "c.3328+1G>C" "r.spl" "p.?" "22i"
"0000774408" "00001847" "90" "3328" "1" "3328" "1" "c.3328+1G>C" "r.spl" "p.?" "22i"
"0000774409" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000774410" "00001847" "90" "4537" "0" "4537" "0" "c.4537del" "r.(?)" "p.(Gln1513Argfs*13)" "30"
"0000774411" "00001847" "50" "5077" "0" "5077" "0" "c.5077G>A" "r.(?)" "p.(Val1693Ile)" "36"
"0000774412" "00001847" "30" "618" "0" "618" "0" "c.618C>T" "r.(?)" "p.(Ser206=)" "6"
"0000774413" "00001847" "50" "2546" "0" "2546" "0" "c.2546T>C" "r.(?)" "p.(Val849Ala)" "16"
"0000774414" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000774415" "00001847" "90" "1937" "1" "1937" "1" "c.1937+1G>C" "r.spl" "p.?" "13i"
"0000774416" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000774417" "00001847" "70" "174" "0" "174" "0" "c.174C>G" "r.(?)" "p.(Asn58Lys)" "3"
"0000774418" "00001847" "90" "6286" "0" "6286" "0" "c.6286G>A" "r.(?)" "p.(Glu2096Lys)" "46"
"0000774419" "00001847" "70" "4363" "0" "4363" "0" "c.4363T>C" "r.(?)" "p.(Cys1455Arg)" "30"
"0000774420" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000774421" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000774422" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000774423" "00001847" "50" "5056" "0" "5056" "0" "c.5056G>A" "r.(?)" "p.(Val1686Met)" "36"
"0000774424" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000774425" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000774426" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000774427" "00001847" "70" "1538" "0" "1538" "0" "c.1538T>C" "r.(?)" "p.(Val513Ala)" "11"
"0000774428" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000774429" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000774430" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000774431" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000774432" "00001847" "70" "5527" "0" "5527" "0" "c.5527C>T" "r.(?)" "p.(Arg1843Trp)" "39"
"0000774433" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000774434" "00001847" "50" "4297" "0" "4297" "0" "c.4297G>A" "r.(?)" "p.(Val1433Ile)" "29"
"0000774435" "00001847" "70" "5087" "0" "5087" "0" "c.5087G>A" "r.(?)" "p.(Ser1696Asn)" "36"
"0000774436" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000774437" "00001847" "70" "5929" "0" "5929" "0" "c.5929G>A" "r.(?)" "p.(Gly1977Ser)" "43"
"0000774438" "00001847" "90" "571" "-2" "571" "-2" "c.571-2A>T" "r.spl" "p.?" "5i"
"0000774439" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000774440" "00001847" "70" "2431" "0" "2431" "0" "c.2431C>T" "r.(?)" "p.(Arg811Cys)" "16"
"0000774441" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000774442" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000774443" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000774444" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000774445" "00001847" "70" "1822" "0" "1822" "0" "c.1822T>A" "r.(?)" "p.(Phe608Ile)" "13"
"0000774446" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000774447" "00001847" "90" "5175" "0" "5175" "0" "c.5175dup" "r.(?)" "p.(Thr1726Aspfs*61)" "36"
"0000774448" "00001847" "70" "203" "0" "203" "0" "c.203C>T" "r.(?)" "p.(Pro68Leu)" "3"
"0000774449" "00001847" "70" "203" "0" "203" "0" "c.203C>T" "r.(?)" "p.(Pro68Leu)" "3"
"0000774450" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000774451" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000774452" "00001847" "70" "769" "-1" "858" "1" "c.(768+1_769-1)_(858+1_859-1)del" "r.(?)" "p.(?)" "6i_7i"
"0000774453" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000774454" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000774455" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000774456" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000774457" "00001847" "70" "5044" "0" "5058" "0" "c.5044_5058del" "r.(?)" "p.(Val1682_Val1686del)" "36"
"0000774458" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000774459" "00001847" "90" "4234" "0" "4234" "0" "c.4234C>T" "r.(?)" "p.(Gln1412*)" "28"
"0000774460" "00001847" "90" "4234" "0" "4234" "0" "c.4234C>T" "r.(?)" "p.(Gln1412*)" "28"
"0000774461" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000774462" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000774463" "00001847" "90" "3329" "-2" "3329" "-2" "c.3329-2A>G" "r.spl" "p.?" "22i"
"0000774464" "00001847" "90" "4667" "2" "4667" "2" "c.4667+2T>C" "r.spl" "p.?" "32i"
"0000774465" "00001847" "70" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" "44"
"0000774466" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000774467" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000774469" "00001847" "90" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973*)" "43"
"0000774470" "00001847" "10" "3899" "0" "3899" "0" "c.3899G>A" "r.(?)" "p.(Arg1300Gln)" "27"
"0000774471" "00001847" "90" "2971" "0" "2971" "0" "c.2971G>C" "r.(?)" "p.(Gly991Arg)" "20"
"0000774472" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000774473" "00001847" "70" "6449" "0" "6449" "0" "c.6449G>A" "r.(?)" "p.(Cys2150Tyr)" "47"
"0000774474" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000774475" "00001847" "70" "6449" "0" "6449" "0" "c.6449G>A" "r.(?)" "p.(Cys2150Tyr)" "47"
"0000774476" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000774477" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000774478" "00001847" "90" "4128" "1" "4128" "1" "c.4128+1G>T" "r.spl" "p.?" "27i"
"0000774479" "00001847" "90" "4128" "1" "4128" "1" "c.4128+1G>T" "r.spl" "p.?" "27i"
"0000774480" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000774481" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000774482" "00001847" "70" "3420" "0" "3420" "0" "c.3420C>G" "r.(?)" "p.(Cys1140Trp)" "23"
"0000774483" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000774484" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000774485" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000774486" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000774487" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000774488" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000774489" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000774490" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000774491" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000774492" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000774493" "00001847" "70" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" "35"
"0000774494" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000774495" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000774496" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000774497" "00001847" "70" "4222" "0" "4222" "0" "c.4222T>C" "r.(?)" "p.(Trp1408Arg)" "28"
"0000774498" "00001847" "70" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" "35"
"0000774499" "00001847" "70" "6449" "0" "6449" "0" "c.6449G>A" "r.(?)" "p.(Cys2150Tyr)" "47"
"0000774500" "00001847" "70" "1609" "0" "1609" "0" "c.1609C>T" "r.(?)" "p.(Arg537Cys)" "12"
"0000774501" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000774502" "00001847" "90" "6386" "2" "6386" "2" "c.6386+2C>G" "r.(?)" "p.(?)" "46i"
"0000774503" "00001847" "90" "6088" "0" "6088" "0" "c.6088C>T" "r.(?)" "p.(Arg2030*)" "44"
"0000774504" "00001847" "90" "5196" "1" "5196" "1" "c.5196+1G>A" "r.spl" "p.?" "36i"
"0000774505" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000774506" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000774507" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000774508" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000774509" "00001847" "70" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" "31"
"0000774510" "00001847" "70" "4222" "0" "4222" "0" "c.4222T>C" "r.(?)" "p.(Trp1408Arg)" "28"
"0000774511" "00001847" "70" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" "35"
"0000774512" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000774513" "00001847" "70" "4363" "0" "4363" "0" "c.4363T>C" "r.(?)" "p.(Cys1455Arg)" "30"
"0000774514" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000774515" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000774516" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000774517" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000774518" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000774519" "00001847" "70" "3364" "0" "3364" "0" "c.3364G>A" "r.(?)" "p.(Glu1122Lys)" "23"
"0000774520" "00001847" "90" "6088" "0" "6088" "0" "c.6088C>T" "r.(?)" "p.(Arg2030*)" "44"
"0000774521" "00001847" "70" "6449" "0" "6449" "0" "c.6449G>A" "r.(?)" "p.(Cys2150Tyr)" "47"
"0000774522" "00001847" "90" "5161" "0" "5162" "0" "c.5161_5162del" "r.(?)" "p.(Thr1721Hisfs*65)" "36"
"0000774523" "00001847" "90" "2564" "0" "2564" "0" "c.2564G>A" "r.(?)" "p.(Trp855*)" "16"
"0000774524" "00001847" "90" "6817" "-2" "6817" "-2" "c.6817-2A>C" "r.spl" "p.?" "49i"
"0000774525" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000774526" "00001847" "70" "6215" "0" "6215" "0" "c.6215G>A" "r.(?)" "p.(Ser2072Asn)" "45"
"0000774527" "00001847" "70" "6729" "5" "6729" "19" "c.6729+5_6729+19del" "r.6480_6729del" "p.(Phe2161Cysfs*3)" "48i"
"0000774528" "00001847" "70" "5308" "0" "5308" "0" "c.5308T>G" "r.(?)" "p.(Tyr1770Asp)" "37"
"0000774529" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000774530" "00001847" "70" "5216" "0" "5218" "0" "c.5216_5218dup" "r.(?)" "p.(Ala1739dup)" "37"
"0000774531" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000774532" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000774533" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000774534" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000774535" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000774536" "00001847" "90" "2382" "1" "2382" "1" "c.2382+1G>A" "r.spl" "p.?" "15i"
"0000774537" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000774538" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000774539" "00001847" "70" "6729" "5" "6729" "19" "c.6729+5_6729+19del" "r.6480_6729del" "p.(Phe2161Cysfs*3)" "48i"
"0000774540" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000774541" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000774542" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000774543" "00001847" "90" "3007" "0" "3007" "0" "c.3007C>T" "r.(?)" "p.(Gln1003*)" "20"
"0000774544" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000774545" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000774546" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000774547" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000774548" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000774549" "00001847" "90" "6316" "0" "6316" "0" "c.6316C>T" "r.(?)" "p.(Arg2106Cys)" "46"
"0000774550" "00001847" "70" "3050" "5" "3050" "5" "c.3050+5G>A" "r.2919_3050del" "p.(Leu973_His1017delinsPhe)" "20i"
"0000774551" "00001847" "70" "6448" "0" "6448" "0" "c.6448T>C" "r.(?)" "p.(Cys2150Arg)" "47"
"0000774552" "00001847" "70" "6449" "0" "6449" "0" "c.6449G>A" "r.(?)" "p.(Cys2150Tyr)" "47"
"0000774553" "00001847" "90" "4234" "0" "4234" "0" "c.4234C>T" "r.(?)" "p.(Gln1412*)" "28"
"0000774554" "00001847" "70" "5318" "0" "5318" "0" "c.5318C>T" "r.(?)" "p.(Ala1773Val)" "38"
"0000774555" "00001847" "70" "4450" "0" "4450" "0" "c.4450C>T" "r.(?)" "p.(Pro1484Ser)" "30"
"0000774556" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000774557" "00001847" "70" "4450" "0" "4450" "0" "c.4450C>T" "r.(?)" "p.(Pro1484Ser)" "30"
"0000774558" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000774559" "00001847" "70" "872" "0" "872" "0" "c.872C>T" "r.(?)" "p.(Pro291Leu)" "8"
"0000774560" "00001847" "50" "656" "0" "656" "0" "c.656G>C" "r.(?)" "p.(Arg219Thr)" "6"
"0000774561" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000774562" "00001847" "90" "4539" "1" "4539" "1" "c.4539+1G>T" "r.spl" "p.?" "30i"
"0000774563" "00001847" "50" "2743" "12" "2743" "12" "c.2743+12A>C" "r.(?)" "p.(?)" "18i"
"0000774564" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000774565" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000774566" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000774567" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000774568" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000774569" "00001847" "90" "570" "1798" "570" "1798" "c.570+1798A>G" "r.570_571ins570+1733_570+1797" "p.(Phe191Leufs*6)" "5i"
"0000774570" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000774571" "00001847" "90" "3051" "-1" "3051" "-1" "c.3051-1G>A" "r.spl" "p.?" "20i"
"0000774572" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000774573" "00001847" "70" "1022" "0" "1022" "0" "c.1022A>G" "r.(?)" "p.(Glu341Gly)" "8"
"0000774574" "00001847" "90" "5018" "2" "5018" "2" "c.5018+2T>C" "r.spl" "p.?" "35i"
"0000774575" "00001847" "90" "5018" "2" "5018" "2" "c.5018+2T>C" "r.spl" "p.?" "35i"
"0000774576" "00001847" "70" "4978" "0" "4978" "0" "c.4978C>T" "r.(?)" "p.(Pro1660Ser)" "35"
"0000774577" "00001847" "70" "4253" "5" "4253" "5" "c.4253+5G>T" "r.[4129_4253del,=]" "p.[Ile1377Hisfs*3,=]" "28i"
"0000774578" "00001847" "70" "4253" "5" "4253" "5" "c.4253+5G>T" "r.[4129_4253del,=]" "p.[Ile1377Hisfs*3,=]" "28i"
"0000774579" "00001847" "70" "4253" "5" "4253" "5" "c.4253+5G>T" "r.[4129_4253del,=]" "p.[Ile1377Hisfs*3,=]" "28i"
"0000774580" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000774581" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000774582" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000774583" "00001847" "70" "5773" "0" "5773" "0" "c.5773A>G" "r.(?)" "p.(Arg1925Gly)" "41"
"0000774584" "00001847" "70" "4352" "5" "4352" "5" "c.4352+5G>A" "r.(?)" "p.(?)" "29i"
"0000774585" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000774586" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000774587" "00001847" "70" "4457" "0" "4457" "0" "c.4457C>T" "r.(?)" "p.(Pro1486Leu)" "30"
"0000774588" "00001847" "70" "4457" "0" "4457" "0" "c.4457C>T" "r.(?)" "p.(Pro1486Leu)" "30"
"0000774589" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000774590" "00001847" "70" "6449" "0" "6449" "0" "c.6449G>A" "r.(?)" "p.(Cys2150Tyr)" "47"
"0000774591" "00001847" "90" "6319" "0" "6319" "0" "c.6319C>T" "r.(?)" "p.(Arg2107Cys)" "46"
"0000774592" "00001847" "50" "1492" "0" "1492" "0" "c.1492G>A" "r.(?)" "p.(Asp498Asn)" "11"
"0000774593" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000774594" "00001847" "70" "4016" "0" "4017" "0" "c.4016_4017insN[24]" "r.(?)" "p.(?)" "27"
"0000774595" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000774596" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000774597" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000774598" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000774599" "00001847" "90" "6445" "0" "6445" "0" "c.6445C>T" "r.(?)" "p.(Arg2149*)" "47"
"0000774600" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000774601" "00001847" "30" "5814" "0" "5814" "0" "c.5814A>G" "r.(?)" "p.(=)" "41"
"0000774602" "00001847" "50" "5682" "0" "5682" "0" "c.5682G>C" "r.(?)" "p.(=)" "40"
"0000774603" "00001847" "50" "5065" "0" "5065" "0" "c.5065T>C" "r.(?)" "p.(Ser1689Pro)" "36"
"0000774604" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000774605" "00001847" "50" "1964" "0" "1964" "0" "c.1964T>G" "r.(?)" "p.(Phe655Cys)" "14"
"0000774606" "00001847" "70" "401" "0" "402" "0" "c.401_402insN[24]" "r.(?)" "p.(?)" "4"
"0000774607" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000774608" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000774609" "00001847" "70" "4793" "0" "4793" "0" "c.4793C>A" "r.(?)" "p.(Ala1598Asp)" "34"
"0000774610" "00001847" "90" "6445" "0" "6445" "0" "c.6445C>T" "r.(?)" "p.(Arg2149*)" "47"
"0000774611" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000774612" "00001847" "70" "4307" "0" "4307" "0" "c.4307A>T" "r.(?)" "p.(Asn1436Ile)" "29"
"0000774613" "00001847" "50" "1204" "0" "1204" "0" "c.1204C>G" "r.(?)" "p.(Pro402Ala)" "9"
"0000774614" "00001847" "90" "5018" "2" "5018" "2" "c.5018+2T>C" "r.spl" "p.?" "35i"
"0000774615" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000774616" "00001847" "90" "6282" "1" "6282" "1" "c.6282+1G>C" "r.spl" "p.?" "45i"
"0000774617" "00001847" "70" "4307" "0" "4307" "0" "c.4307A>T" "r.(?)" "p.(Asn1436Ile)" "29"
"0000774618" "00001847" "90" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973*)" "43"
"0000774619" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000774620" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000774621" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000774622" "00001847" "70" "5819" "0" "5819" "0" "c.5819T>A" "r.(?)" "p.(Leu1940Gln)" "41"
"0000774623" "00001847" "90" "302" "1" "302" "1" "c.302+1G>A" "r.spl" "p.?" "3i"
"0000774624" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000774625" "00001847" "50" "3758" "0" "3758" "0" "c.3758C>T" "r.(?)" "p.(Thr1253Met)" "25"
"0000774626" "00001847" "50" "5018" "8" "5018" "8" "c.5018+8A>G" "r.(?)" "p.(?)" "35i"
"0000774627" "00001847" "90" "6592" "0" "6592" "0" "c.6592C>T" "r.(?)" "p.(Gln2198*)" "48"
"0000774628" "00001847" "90" "1795" "0" "1795" "0" "c.1795del" "r.(?)" "p.(Glu599Lysfs*50)" "13"
"0000774629" "00001847" "90" "4849" "-1" "4849" "-1" "c.4849-1C>G" "r.(?)" "p.(?)" "34i"
"0000774630" "00001847" "90" "4773" "1" "4773" "1" "c.4773+1G>A" "r.spl" "p.?" "33i"
"0000774631" "00001847" "10" "6282" "7" "6282" "7" "c.6282+7G>A" "r.(?)" "p.(?)" "45i"
"0000774632" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000774633" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000774634" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000774635" "00001847" "90" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973*)" "43"
"0000774636" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000774637" "00001847" "90" "4352" "1" "4352" "1" "c.4352+1G>A" "r.spl" "p.?" "29i"
"0000774638" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000774639" "00001847" "90" "4352" "1" "4352" "1" "c.4352+1G>A" "r.spl" "p.?" "29i"
"0000774640" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000774641" "00001847" "90" "4352" "1" "4352" "1" "c.4352+1G>A" "r.spl" "p.?" "29i"
"0000774642" "00001847" "50" "2560" "0" "2560" "0" "c.2560G>A" "r.(?)" "p.(Ala854Thr)" "16"
"0000774643" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000774644" "00001847" "90" "5898" "1" "5898" "1" "c.5898+1G>A" "r.spl" "p.?" "42i"
"0000774645" "00001847" "90" "5898" "1" "5898" "1" "c.5898+1G>A" "r.spl" "p.?" "42i"
"0000774646" "00001847" "90" "5898" "1" "5898" "1" "c.5898+1G>A" "r.spl" "p.?" "42i"
"0000774647" "00001847" "90" "1819" "0" "1819" "0" "c.1819G>C" "r.(?)" "p.(Gly607Arg)" "13"
"0000774648" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000774649" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000774650" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000774651" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000774652" "00001847" "90" "2568" "0" "2568" "0" "c.2568C>A" "r.(?)" "p.(Tyr856*)" "16"
"0000774653" "00001847" "90" "454" "0" "454" "0" "c.454C>T" "r.(?)" "p.(Arg152*)" "5"
"0000774654" "00001847" "90" "6658" "0" "6658" "0" "c.6658C>T" "r.(?)" "p.(Gln2220*)" "48"
"0000774655" "00001847" "90" "4537" "0" "4537" "0" "c.4537del" "r.(?)" "p.(Gln1513Argfs*13)" "30"
"0000774656" "00001847" "90" "1317" "0" "1317" "0" "c.1317G>A" "r.(?)" "p.(Trp439*)" "10"
"0000774657" "00001847" "90" "666" "0" "678" "0" "c.666_678del" "r.(?)" "p.(Lys223Metfs*14)" "6"
"0000774658" "00001847" "90" "1648" "0" "1648" "0" "c.1648G>T" "r.(?)" "p.(Gly550*)" "12"
"0000774659" "00001847" "90" "454" "0" "454" "0" "c.454C>T" "r.(?)" "p.(Arg152*)" "5"
"0000774660" "00001847" "90" "21" "0" "21" "0" "c.21dup" "r.(?)" "p.(Gln8Hisfs*33)" "1"
"0000774661" "00001847" "90" "1906" "0" "1906" "0" "c.1906C>T" "r.(?)" "p.(Gln636*)" "13"
"0000774662" "00001847" "90" "1906" "0" "1906" "0" "c.1906C>T" "r.(?)" "p.(Gln636*)" "13"
"0000774663" "00001847" "90" "3289" "0" "3289" "0" "c.3289A>T" "r.(?)" "p.(Arg1097*)" "22"
"0000774664" "00001847" "90" "3289" "0" "3289" "0" "c.3289A>T" "r.(?)" "p.(Arg1097*)" "22"
"0000774665" "00001847" "90" "6088" "0" "6088" "0" "c.6088C>T" "r.(?)" "p.(Arg2030*)" "44"
"0000774666" "00001847" "90" "6658" "0" "6658" "0" "c.6658C>T" "r.(?)" "p.(Gln2220*)" "48"
"0000774667" "00001847" "90" "6118" "0" "6118" "0" "c.6118C>T" "r.(?)" "p.(Arg2040*)" "44"
"0000774668" "00001847" "90" "6658" "0" "6658" "0" "c.6658C>T" "r.(?)" "p.(Gln2220*)" "48"
"0000774669" "00001847" "90" "93" "0" "93" "0" "c.93G>A" "r.(?)" "p.(Gln8Hisfs*33)" "2"
"0000774670" "00001847" "90" "885" "0" "885" "0" "c.885del" "r.(?)" "p.(Leu296Cysfs*4)" "8"
"0000774671" "00001847" "90" "885" "0" "885" "0" "c.885del" "r.(?)" "p.(Leu296Cysfs*4)" "8"
"0000774672" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000774673" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000774674" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000774675" "00001847" "90" "6712" "0" "6712" "0" "c.6712C>T" "r.(?)" "p.(Gln2238*)" "48"
"0000774676" "00001847" "90" "5222" "0" "5222" "0" "c.5222del" "r.(?)" "p.(Leu1741Argfs*37)" "37"
"0000774677" "00001847" "70" "6729" "5" "6729" "19" "c.6729+5_6729+19del" "r.6480_6729del" "p.(Phe2161Cysfs*3)" "48i"
"0000774678" "00001847" "90" "3994" "0" "3994" "0" "c.3994C>T" "r.(?)" "p.(Gln1332*)" "27"
"0000774679" "00001847" "90" "4637" "0" "4637" "0" "c.4637T>G" "r.(?)" "p.(Leu1546*)" "32"
"0000774680" "00001847" "90" "1906" "0" "1906" "0" "c.1906C>T" "r.(?)" "p.(Gln636*)" "13"
"0000774681" "00001847" "90" "3050" "1" "3050" "1" "c.3050+1G>C" "r.spl" "p.?" "20i"
"0000774682" "00001847" "90" "5018" "2" "5018" "2" "c.5018+2T>C" "r.spl" "p.?" "35i"
"0000774683" "00001847" "90" "5899" "-2" "5899" "-2" "c.5899-2del" "r.(?)" "p.(?)" "42i"
"0000774684" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000774685" "00001847" "70" "4253" "5" "4253" "5" "c.4253+5G>A" "r.4129_4253del" "p.(Ile1377Hisfs*3)" "28i"
"0000774686" "00001847" "90" "5018" "5" "5018" "5" "c.5018+5G>A" "r.4849_5018del" "p.(Val1617Alafs*113)" "35i"
"0000774687" "00001847" "90" "6118" "0" "6118" "0" "c.6118C>T" "r.(?)" "p.(Arg2040*)" "44"
"0000774688" "00001847" "70" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" "44"
"0000774689" "00001847" "50" "4297" "0" "4297" "0" "c.4297G>A" "r.(?)" "p.(Val1433Ile)" "29"
"0000774690" "00001847" "50" "656" "0" "656" "0" "c.656G>C" "r.(?)" "p.(Arg219Thr)" "6"
"0000774691" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000774692" "00001847" "70" "872" "0" "872" "0" "c.872C>T" "r.(?)" "p.(Pro291Leu)" "8"
"0000774693" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000774694" "00001847" "90" "5813" "0" "5813" "0" "c.5813T>G" "r.(?)" "p.(Leu1938*)" "41"
"0000774695" "00001847" "50" "4519" "0" "4519" "0" "c.4519G>A" "r.(?)" "p.(Gly1507Arg)" "30"
"0000774696" "00001847" "70" "5537" "0" "5537" "0" "c.5537T>C" "r.(?)" "p.(Ile1846Thr)" "39"
"0000774697" "00001847" "70" "1817" "0" "1817" "0" "c.1817G>A" "r.(?)" "p.(Gly606Asp)" "13"
"0000774698" "00001847" "90" "6729" "1" "6729" "1" "c.6729+1G>A" "r.spl" "p.?" "48i"
"0000774699" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000774700" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000774701" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000774702" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000774703" "00001847" "70" "6686" "0" "6686" "0" "c.6686T>C" "r.(?)" "p.(Leu2229Pro)" "48"
"0000774704" "00001847" "70" "3813" "0" "3813" "0" "c.3813G>T" "r.(?)" "p.(Glu1271Asp)" "25"
"0000774705" "00001847" "90" "2691" "0" "2691" "0" "c.2691del" "r.(?)" "p.(Glu898Serfs*3)" "18"
"0000774706" "00001847" "90" "1937" "1" "1937" "1" "c.1937+1G>A" "r.spl" "p.?" "13i"
"0000774707" "00001847" "90" "6704" "0" "6704" "0" "c.6704C>G" "r.(?)" "p.(Ser2235*)" "48"
"0000774708" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000774709" "00001847" "70" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" "31"
"0000774710" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000774711" "00001847" "90" "5584" "0" "6821" "0" "c.5584_6821del" "r.(?)" "p.(?)" "39_50"
"0000774712" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000774713" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000774714" "00001847" "90" "5689" "0" "5689" "0" "c.5689C>T" "r.(?)" "p.(Gln1897*)" "40"
"0000774715" "00001847" "50" "4195" "0" "4195" "0" "c.4195G>A" "r.(?)" "p.(Glu1399Lys)" "28"
"0000774716" "00001847" "90" "2005" "0" "2006" "0" "c.2005_2006del" "r.(?)" "p.(Met669Aspfs*96)" "14"
"0000774717" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000774718" "00001847" "90" "2568" "0" "2568" "0" "c.2568C>A" "r.(?)" "p.(Tyr856*)" "16"
"0000774719" "00001847" "90" "6479" "1" "6479" "1" "c.6479+1G>C" "r.spl" "p.?" "47i"
"0000774720" "00001847" "70" "5929" "0" "5929" "0" "c.5929G>A" "r.(?)" "p.(Gly1977Ser)" "43"
"0000774721" "00001847" "90" "5196" "1" "5196" "1" "c.5196+1G>A" "r.spl" "p.?" "36i"
"0000774722" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000774723" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000774724" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000774725" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000774726" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000774727" "00001847" "90" "5222" "0" "5232" "0" "c.5222_5232del" "r.(?)" "p.(Leu1741Hisfs*42)" "37"
"0000774728" "00001847" "90" "1317" "0" "1317" "0" "c.1317G>A" "r.(?)" "p.(Trp439*)" "10"
"0000774729" "00001847" "90" "1317" "0" "1317" "0" "c.1317G>A" "r.(?)" "p.(Trp439*)" "10"
"0000774730" "00001847" "90" "3808" "0" "3808" "0" "c.3808G>T" "r.(?)" "p.(Glu1270*)" "25"
"0000774731" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000774732" "00001847" "90" "454" "0" "454" "0" "c.454C>T" "r.(?)" "p.(Arg152*)" "5"
"0000774733" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000774734" "00001847" "70" "6729" "5" "6729" "19" "c.6729+5_6729+19del" "r.6480_6729del" "p.(Phe2161Cysfs*3)" "48i"
"0000774735" "00001847" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408*)" "9"
"0000774736" "00001847" "70" "6729" "5" "6729" "19" "c.6729+5_6729+19del" "r.6480_6729del" "p.(Phe2161Cysfs*3)" "48i"
"0000774737" "00001847" "90" "3392" "0" "3393" "0" "c.3392_3393delinsG" "r.(?)" "p.(Ala1131Glyfs*17)" "23"
"0000774738" "00001847" "90" "6712" "0" "6712" "0" "c.6712C>T" "r.(?)" "p.(Gln2238*)" "48"
"0000774739" "00001847" "90" "6118" "0" "6118" "0" "c.6118C>T" "r.(?)" "p.(Arg2040*)" "44"
"0000774740" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000774741" "00001847" "90" "1317" "0" "1317" "0" "c.1317G>A" "r.(?)" "p.(Trp439*)" "10"
"0000774742" "00001847" "90" "1906" "0" "1906" "0" "c.1906C>T" "r.(?)" "p.(Gln636*)" "13"
"0000774743" "00001847" "90" "1317" "0" "1317" "0" "c.1317G>A" "r.(?)" "p.(Trp439*)" "10"
"0000774744" "00001847" "90" "1906" "0" "1906" "0" "c.1906C>T" "r.(?)" "p.(Gln636*)" "13"
"0000774745" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000774746" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000774747" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000774748" "00001847" "90" "1906" "0" "1906" "0" "c.1906C>T" "r.(?)" "p.(Gln636*)" "13"
"0000774749" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000774750" "00001847" "90" "735" "0" "735" "0" "c.735T>G" "r.(?)" "p.(Tyr245*)" "6"
"0000774751" "00001847" "90" "5161" "0" "5162" "0" "c.5161_5162del" "r.(?)" "p.(Thr1721Hisfs*65)" "36"
"0000774752" "00001847" "90" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071Cysfs*14)" "22"
"0000774753" "00001847" "90" "1906" "0" "1906" "0" "c.1906C>T" "r.(?)" "p.(Gln636*)" "13"
"0000774754" "00001847" "90" "1906" "0" "1906" "0" "c.1906C>T" "r.(?)" "p.(Gln636*)" "13"
"0000774755" "00001847" "90" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071Cysfs*14)" "22"
"0000774756" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000774757" "00001847" "90" "1906" "0" "1906" "0" "c.1906C>T" "r.(?)" "p.(Gln636*)" "13"
"0000774758" "00001847" "90" "655" "0" "655" "0" "c.655A>T" "r.(?)" "p.(Arg219*)" "6"
"0000774759" "00001847" "90" "1512" "0" "1512" "0" "c.1512dup" "r.(?)" "p.(Ile505Hisfs*3)" "11"
"0000774760" "00001847" "90" "1906" "0" "1906" "0" "c.1906C>T" "r.(?)" "p.(Gln636*)" "13"
"0000774761" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000774762" "00001847" "90" "1906" "0" "1906" "0" "c.1906C>T" "r.(?)" "p.(Gln636*)" "13"
"0000774763" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000774764" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000774765" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000774766" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000774767" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000774768" "00001847" "90" "6658" "0" "6658" "0" "c.6658C>T" "r.(?)" "p.(Gln2220*)" "48"
"0000774769" "00001847" "90" "1317" "0" "1317" "0" "c.1317G>A" "r.(?)" "p.(Trp439*)" "10"
"0000774770" "00001847" "90" "1339" "0" "1339" "0" "c.1339C>T" "r.(?)" "p.(Gln447*)" "10"
"0000774771" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000774772" "00001847" "90" "93" "0" "93" "0" "c.93G>A" "r.(?)" "p.(Gln8Hisfs*33)" "2"
"0000774773" "00001847" "70" "1043" "0" "1043" "0" "c.1043T>G" "r.(?)" "p.(Phe348Cys)" "8"
"0000774774" "00001847" "70" "1043" "0" "1043" "0" "c.1043T>G" "r.(?)" "p.(Phe348Cys)" "8"
"0000774775" "00001847" "70" "203" "0" "203" "0" "c.203C>T" "r.(?)" "p.(Pro68Leu)" "3"
"0000774776" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000774777" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000774778" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000774779" "00001847" "70" "5753" "0" "5753" "0" "c.5753A>T" "r.(?)" "p.(Asp1918Val)" "41"
"0000774780" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000774781" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000774782" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000774783" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000774784" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000774785" "00001847" "50" "4297" "0" "4297" "0" "c.4297G>A" "r.(?)" "p.(Val1433Ile)" "29"
"0000774786" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000774787" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000774788" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000774789" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000774790" "00001847" "70" "2906" "0" "2906" "0" "c.2906A>G" "r.(?)" "p.(Lys969Arg)" "19"
"0000774791" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000774792" "00001847" "50" "4685" "0" "4685" "0" "c.4685T>C" "r.(?)" "p.(Ile1562Thr)" "33"
"0000774793" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000774794" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000774795" "00001847" "70" "5537" "0" "5537" "0" "c.5537T>C" "r.(?)" "p.(Ile1846Thr)" "39"
"0000774796" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000774797" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000774798" "00001847" "10" "6285" "0" "6285" "0" "c.6285T>C" "r.(?)" "p.(=)" "46"
"0000774799" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000774800" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000774801" "00001847" "90" "6316" "0" "6316" "0" "c.6316C>T" "r.(?)" "p.(Arg2106Cys)" "46"
"0000774802" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000774803" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000774804" "00001847" "90" "3259" "0" "3259" "0" "c.3259G>A" "r.(?)" "p.(Glu1087Lys)" "22"
"0000774805" "00001847" "90" "3259" "0" "3259" "0" "c.3259G>A" "r.(?)" "p.(Glu1087Lys)" "22"
"0000774806" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000774807" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000774808" "00001847" "90" "3523" "-2" "3523" "-2" "c.3523-2A>G" "r.spl" "p.?" "23i"
"0000774809" "00001847" "90" "3523" "-2" "3523" "-2" "c.3523-2A>G" "r.spl" "p.?" "23i"
"0000774810" "00001847" "90" "3523" "-2" "3523" "-2" "c.3523-2A>G" "r.spl" "p.?" "23i"
"0000774811" "00001847" "70" "5898" "5" "5898" "5" "c.5898+5del" "r.[5898_5899ins[gugg;5898+6_5890-1],5898_5899ins[gugg;5898+6_5899+170]]" "p.(Cys1967Valfs*24)" "42i"
"0000774812" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000774813" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000774814" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000774815" "00001847" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408*)" "9"
"0000774816" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000774817" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000774818" "00001847" "30" "6729" "21" "6729" "21" "c.6729+21C>T" "r.(?)" "p.(?)" ""
"0000774819" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000774820" "00001847" "50" "4256" "0" "4256" "0" "c.4256T>C" "r.(?)" "p.(Met1419Thr)" ""
"0000774821" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000774822" "00001847" "90" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973*)" "43"
"0000774823" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000774824" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000774825" "00001847" "70" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" "35"
"0000774826" "00001847" "10" "2828" "0" "2828" "0" "c.2828G>A" "r.(?)" "p.(Arg943Gln)" ""
"0000774827" "00001847" "70" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" "44"
"0000774828" "00001847" "90" "5898" "2" "5898" "2" "c.5898+2T>C" "r.spl" "p.?" "42i"
"0000774829" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000774830" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000774831" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000774832" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000774833" "00001847" "50" "5206" "0" "5206" "0" "c.5206T>C" "r.(?)" "p.(Ser1736Pro)" ""
"0000774834" "00001847" "70" "6686" "0" "6686" "0" "c.6686T>C" "r.(?)" "p.(Leu2229Pro)" "48"
"0000774835" "00001847" "70" "4222" "0" "4222" "0" "c.4222T>C" "r.(?)" "p.(Trp1408Arg)" "28"
"0000774836" "00001847" "70" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" "35"
"0000774837" "00001847" "70" "1018" "0" "1018" "0" "c.1018T>C" "r.(?)" "p.(Tyr340His)" "8"
"0000774838" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000774839" "00001847" "70" "6221" "0" "6221" "0" "c.6221G>T" "r.(?)" "p.(Gly2074Val)" "45"
"0000774840" "00001847" "70" "3304" "0" "3304" "0" "c.3304G>T" "r.(?)" "p.(Asp1102Tyr)" "22"
"0000774841" "00001847" "70" "4222" "0" "4222" "0" "c.4222T>C" "r.(?)" "p.(Trp1408Arg)" "28"
"0000774842" "00001847" "70" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" "35"
"0000774843" "00001847" "90" "5196" "1" "5196" "1" "c.5196+1G>A" "r.spl" "p.?" "36i"
"0000774844" "00001847" "70" "2161" "-8" "2161" "-8" "c.2161-8G>A" "r.2161_2382del" "p.(His721_Val794del)" "14i"
"0000774845" "00001847" "70" "4222" "0" "4222" "0" "c.4222T>C" "r.(?)" "p.(Trp1408Arg)" "28"
"0000774846" "00001847" "70" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" "35"
"0000774847" "00001847" "90" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973*)" "43"
"0000774848" "00001847" "70" "4217" "0" "4217" "0" "c.4217A>G" "r.(?)" "p.(His1406Arg)" "28"
"0000774849" "00001847" "90" "4734" "0" "4734" "0" "c.4734del" "r.(?)" "p.(Leu1580*)" "33"
"0000774850" "00001847" "70" "6729" "5" "6729" "19" "c.6729+5_6729+19del" "r.6480_6729del" "p.(Phe2161Cysfs*3)" "48i"
"0000774851" "00001847" "70" "6729" "5" "6729" "19" "c.6729+5_6729+19del" "r.6480_6729del" "p.(Phe2161Cysfs*3)" "48i"
"0000774852" "00001847" "70" "859" "-9" "859" "-9" "c.859-9T>C" "r.[=,859_1356del]" "p.[=,Phe287_Arg452del]" "7i"
"0000774853" "00001847" "70" "859" "-9" "859" "-9" "c.859-9T>C" "r.[=,859_1356del]" "p.[=,Phe287_Arg452del]" "7i"
"0000774854" "00001847" "90" "6658" "0" "6658" "0" "c.6658C>T" "r.(?)" "p.(Gln2220*)" "48"
"0000774855" "00001847" "70" "3407" "0" "3407" "0" "c.3407G>T" "r.(?)" "p.(Gly1136Val)" "23"
"0000774856" "00001847" "90" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973*)" "43"
"0000774857" "00001847" "70" "1819" "0" "1819" "0" "c.1819G>T" "r.(?)" "p.(Gly607Trp)" "13"
"0000774858" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000774859" "00001847" "90" "1957" "0" "1957" "0" "c.1957C>T" "r.(?)" "p.(Arg653Cys)" "14"
"0000774860" "00001847" "70" "5318" "0" "5318" "0" "c.5318C>T" "r.(?)" "p.(Ala1773Val)" "38"
"0000774861" "00001847" "70" "5646" "0" "5646" "0" "c.5646G>A" "r.(?)" "p.(Met1882Ile)" "40"
"0000774862" "00001847" "90" "5313" "-2" "5316" "0" "c.5313-2_5316del" "r.(?)" "p.(?)" "38"
"0000774863" "00001847" "70" "6317" "0" "6317" "0" "c.6317G>A" "r.(?)" "p.(Arg2106His)" "46"
"0000774864" "00001847" "90" "160" "2" "160" "2" "c.160+2T>C" "r.spl" "p.?" "2i"
"0000774865" "00001847" "70" "6098" "0" "6098" "0" "c.6098T>A" "r.(?)" "p.(Leu2033His)" "44"
"0000774866" "00001847" "90" "6479" "1" "6479" "1" "c.6479+1G>A" "r.spl" "p.?" "47i"
"0000774867" "00001847" "70" "3830" "0" "3830" "0" "c.3830C>T" "r.(?)" "p.(Thr1277Met)" "26"
"0000774868" "00001847" "70" "179" "0" "179" "0" "c.179C>T" "r.(?)" "p.(Ala60Val)" "3"
"0000774869" "00001847" "70" "3830" "0" "3830" "0" "c.3830C>T" "r.(?)" "p.(Thr1277Met)" "26"
"0000774870" "00001847" "90" "6445" "0" "6445" "0" "c.6445C>T" "r.(?)" "p.(Arg2149*)" "47"
"0000774871" "00001847" "90" "6445" "0" "6445" "0" "c.6445C>T" "r.(?)" "p.(Arg2149*)" "47"
"0000774872" "00001847" "90" "2966" "0" "2966" "0" "c.2966T>C" "r.(?)" "p.(Val989Ala)" "20"
"0000774873" "00001847" "90" "2966" "0" "2966" "0" "c.2966T>C" "r.(?)" "p.(Val989Ala)" "20"
"0000774874" "00001847" "90" "4773" "1" "4773" "1" "c.4773+1G>T" "r.spl" "p.?" "33i"
"0000774875" "00001847" "90" "6709" "0" "6709" "0" "c.6709dup" "r.(?)" "p.(Thr2237Asnfs*14)" "48"
"0000774876" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000774877" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000774878" "00001847" "90" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973*)" "43"
"0000774879" "00001847" "90" "6658" "0" "6658" "0" "c.6658C>T" "r.(?)" "p.(Gln2220*)" "48"
"0000774880" "00001847" "50" "5761" "0" "5761" "0" "c.5761G>A" "r.(?)" "p.(Val1921Met)" "41"
"0000774881" "00001847" "90" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973*)" "43"
"0000774882" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000774883" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000774884" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000774885" "00001847" "70" "2522" "0" "2522" "0" "c.2522A>C" "r.(?)" "p.(Gln841Pro)" "16"
"0000774886" "00001847" "90" "1957" "0" "1957" "0" "c.1957C>T" "r.(?)" "p.(Arg653Cys)" "14"
"0000774887" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000774888" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000774889" "00001847" "70" "3197" "0" "3197" "0" "c.3197T>G" "r.(?)" "p.(Met1066Arg)" "22"
"0000774890" "00001847" "70" "3299" "0" "3299" "0" "c.3299T>A" "r.(?)" "p.(Ile1100Asn)" "22"
"0000774891" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000774892" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000774893" "00001847" "90" "2160" "1" "2160" "1" "c.2160+1G>T" "r.spl" "p.?" "14i"
"0000774894" "00001847" "70" "214" "0" "214" "0" "c.214G>A" "r.(?)" "p.(Gly72Arg)" "3"
"0000774895" "00001847" "70" "5537" "0" "5537" "0" "c.5537T>C" "r.(?)" "p.(Ile1846Thr)" "39"
"0000774896" "00001847" "70" "1822" "0" "1822" "0" "c.1822T>A" "r.(?)" "p.(Phe608Ile)" "13"
"0000774897" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000774898" "00001847" "90" "5337" "0" "5337" "0" "c.5337C>A" "r.(?)" "p.(Tyr1779*)" "38"
"0000774899" "00001847" "90" "4773" "1" "4773" "1" "c.4773+1G>A" "r.spl" "p.?" "33i"
"0000774900" "00001847" "90" "6316" "0" "6316" "0" "c.6316C>T" "r.(?)" "p.(Arg2106Cys)" "46"
"0000774901" "00001847" "90" "4234" "0" "4234" "0" "c.4234C>T" "r.(?)" "p.(Gln1412*)" "28"
"0000774902" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000774903" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000774904" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000774905" "00001847" "70" "5512" "0" "5512" "0" "c.5512C>A" "r.(?)" "p.(His1838Asn)" "39"
"0000774906" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000774907" "00001847" "90" "3056" "0" "3056" "0" "c.3056C>T" "r.(?)" "p.(Thr1019Met)" "21"
"0000774908" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000774909" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000774910" "00001847" "90" "6282" "1" "6282" "1" "c.6282+1G>C" "r.spl" "p.?" "45i"
"0000774911" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000774912" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000774913" "00001847" "70" "4450" "0" "4450" "0" "c.4450C>T" "r.(?)" "p.(Pro1484Ser)" "30"
"0000774914" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000774915" "00001847" "70" "4793" "0" "4793" "0" "c.4793C>A" "r.(?)" "p.(Ala1598Asp)" "34"
"0000774916" "00001847" "70" "5087" "0" "5087" "0" "c.5087G>A" "r.(?)" "p.(Ser1696Asn)" "36"
"0000774917" "00001847" "90" "3531" "0" "3531" "0" "c.3531C>A" "r.(?)" "p.(Cys1177*)" "24"
"0000774918" "00001847" "90" "6419" "0" "6419" "0" "c.6419T>A" "r.(?)" "p.(Leu2140Gln)" "47"
"0000774919" "00001847" "90" "6419" "0" "6419" "0" "c.6419T>A" "r.(?)" "p.(Leu2140Gln)" "47"
"0000774920" "00001847" "70" "3323" "0" "3323" "0" "c.3323G>A" "r.(?)" "p.(Arg1108His)" "22"
"0000774921" "00001847" "50" "4297" "0" "4297" "0" "c.4297G>A" "r.(?)" "p.(Val1433Ile)" "29"
"0000774922" "00001847" "70" "5087" "0" "5087" "0" "c.5087G>A" "r.(?)" "p.(Ser1696Asn)" "36"
"0000774923" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000774924" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000774925" "00001847" "70" "5929" "0" "5929" "0" "c.5929G>A" "r.(?)" "p.(Gly1977Ser)" "43"
"0000774926" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000774927" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000774928" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000774929" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000774930" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000774931" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000774932" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000774933" "00001847" "70" "5898" "5" "5898" "5" "c.5898+5del" "r.[5898_5899ins[gugg;5898+6_5890-1],5898_5899ins[gugg;5898+6_5899+170]]" "p.(Cys1967Valfs*24)" "42i"
"0000774934" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000774935" "00001847" "90" "3056" "0" "3056" "0" "c.3056C>T" "r.(?)" "p.(Thr1019Met)" "21"
"0000774936" "00001847" "90" "2382" "1" "2382" "1" "c.2382+1G>A" "r.spl" "p.?" "15i"
"0000774937" "00001847" "90" "3523" "-1" "3523" "-1" "c.3523-1G>A" "r.spl" "p.?" "23i"
"0000774938" "00001847" "70" "6229" "0" "6229" "0" "c.6229C>T" "r.(?)" "p.(Arg2077Trp)" "45"
"0000774939" "00001847" "70" "5087" "0" "5087" "0" "c.5087G>A" "r.(?)" "p.(Ser1696Asn)" "36"
"0000774940" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000774941" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000774942" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000774943" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000774944" "00001847" "90" "6005" "1" "6005" "1" "c.6005+1G>T" "r.spl" "p.?" "43i"
"0000774945" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000774946" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000774947" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000774948" "00001847" "30" "2160" "584" "2160" "584" "c.2160+584A>G" "r.=" "p.(=)" "14i"
"0000774949" "00001847" "50" "5822" "0" "5822" "0" "c.5822A>C" "r.(?)" "p.(His1941Pro)" "41"
"0000774950" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000774951" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000774952" "00001847" "70" "5537" "0" "5537" "0" "c.5537T>C" "r.(?)" "p.(Ile1846Thr)" "39"
"0000774953" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000774954" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000774955" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000774956" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000774957" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000774958" "00001847" "50" "4326" "0" "4326" "0" "c.4326C>A" "r.(?)" "p.(Asn1442Lys)" "29"
"0000774959" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000774960" "00001847" "90" "3085" "0" "3085" "0" "c.3085C>T" "r.(?)" "p.(Gln1029*)" "21"
"0000774961" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000774962" "00001847" "90" "4234" "0" "4234" "0" "c.4234C>T" "r.(?)" "p.(Gln1412*)" "28"
"0000774963" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000774964" "00001847" "50" "5138" "0" "5138" "0" "c.5138A>G" "r.(?)" "p.(Gln1713Arg)" "36"
"0000774965" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000774966" "00001847" "90" "319" "0" "319" "0" "c.319C>T" "r.(?)" "p.(Arg107*)" "4"
"0000774967" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000774968" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000774969" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000774970" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000774971" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000774972" "00001847" "70" "4919" "0" "4919" "0" "c.4919G>A" "r.(?)" "p.(Arg1640Gln)" "35"
"0000774973" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000774974" "00001847" "50" "5114" "0" "5114" "0" "c.5114G>A" "r.(?)" "p.(Arg1705Gln)" "36"
"0000774975" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000774976" "00001847" "90" "5778" "0" "5779" "0" "c.5778_5779del" "r.(?)" "p.(Arg1927Asnfs*7)" "41"
"0000774977" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000774978" "00001847" "70" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" "44"
"0000774979" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000774980" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000774981" "00001847" "90" "6088" "0" "6088" "0" "c.6088C>T" "r.(?)" "p.(Arg2030*)" "44"
"0000774982" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000774983" "00001847" "90" "6088" "0" "6088" "0" "c.6088C>T" "r.(?)" "p.(Arg2030*)" "44"
"0000774984" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000774985" "00001847" "50" "6119" "0" "6119" "0" "c.6119G>A" "r.(?)" "p.(Arg2040Gln)" "44"
"0000774986" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000774987" "00001847" "90" "1957" "0" "1957" "0" "c.1957C>T" "r.(?)" "p.(Arg653Cys)" "14"
"0000774988" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000774989" "00001847" "90" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071Cysfs*14)" "22"
"0000774990" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000774991" "00001847" "70" "3335" "0" "3335" "0" "c.3335C>A" "r.(?)" "p.(Thr1112Asn)" "23"
"0000774992" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000774993" "00001847" "70" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" "31"
"0000774994" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000774995" "00001847" "50" "6718" "0" "6718" "0" "c.6718A>G" "r.(?)" "p.(Thr2240Ala)" "48"
"0000774996" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000774997" "00001847" "70" "2947" "0" "2947" "0" "c.2947A>G" "r.(?)" "p.(Thr983Ala)" "20"
"0000774998" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000774999" "00001847" "70" "1843" "0" "1843" "0" "c.1843G>T" "r.(?)" "p.(Val615Phe)" "13"
"0000775000" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000775001" "00001847" "90" "122" "0" "122" "0" "c.122G>A" "r.(?)" "p.(Trp41*)" "2"
"0000775002" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000775003" "00001847" "50" "3758" "0" "3758" "0" "c.3758C>T" "r.(?)" "p.(Thr1253Met)" "25"
"0000775004" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000775005" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000775006" "00001847" "70" "4222" "0" "4222" "0" "c.4222T>C" "r.(?)" "p.(Trp1408Arg)" "28"
"0000775007" "00001847" "70" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" "35"
"0000775008" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000775009" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000775010" "00001847" "90" "1938" "-619" "1938" "-619" "c.1938-619A>G" "r.[1937_1938ins1938-797_1938-624,=]" "p.[Phe647Alafs*22,=]" "13i"
"0000775011" "00001847" "90" "2160" "1" "2160" "1" "c.2160+1G>C" "r.spl" "p.?" "14i"
"0000775012" "00001847" "90" "2160" "1" "2160" "1" "c.2160+1G>C" "r.spl" "p.?" "14i"
"0000775013" "00001847" "90" "3813" "1" "3813" "1" "c.3813+1G>T" "r.spl" "p.?" "25i"
"0000775014" "00001847" "70" "4253" "4" "4253" "4" "c.4253+4C>T" "r.4129_4253del" "p.(Ile1377Hisfs*3)" "28i"
"0000775015" "00001847" "70" "4253" "5" "4253" "5" "c.4253+5G>T" "r.[4129_4253del,=]" "p.[Ile1377Hisfs*3,=]" "28i"
"0000775016" "00001847" "70" "4253" "5" "4253" "5" "c.4253+5G>T" "r.[4129_4253del,=]" "p.[Ile1377Hisfs*3,=]" "28i"
"0000775017" "00001847" "90" "4352" "1" "4352" "1" "c.4352+1G>A" "r.spl" "p.?" "29i"
"0000775018" "00001847" "70" "4539" "2001" "4539" "2001" "c.4539+2001G>A" "r.[=,4539_4540ins4539+1891_4540-2162]" "p.[=,Arg1514Leufs*36]" "30i"
"0000775019" "00001847" "70" "4539" "2001" "4539" "2001" "c.4539+2001G>A" "r.[=,4539_4540ins4539+1891_4540-2162]" "p.[=,Arg1514Leufs*36]" "30i"
"0000775020" "00001847" "50" "4539" "2028" "4539" "2028" "c.4539+2028C>T" "r.[=,4539_4540ins[4539+1891_4539+2027;u;4539+2029_4540-2162]]" "p.[=,Arg1514Leufs*36]" "30i"
"0000775021" "00001847" "50" "4539" "2028" "4539" "2028" "c.4539+2028C>T" "r.[=,4539_4540ins[4539+1891_4539+2027;u;4539+2029_4540-2162]]" "p.[=,Arg1514Leufs*36]" "30i"
"0000775022" "00001847" "50" "4539" "2028" "4539" "2028" "c.4539+2028C>T" "r.[=,4539_4540ins[4539+1891_4539+2027;u;4539+2029_4540-2162]]" "p.[=,Arg1514Leufs*36]" "30i"
"0000775023" "00001847" "50" "4539" "2028" "4539" "2028" "c.4539+2028C>T" "r.[=,4539_4540ins[4539+1891_4539+2027;u;4539+2029_4540-2162]]" "p.[=,Arg1514Leufs*36]" "30i"
"0000775024" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000775025" "00001847" "90" "4540" "-2" "4540" "-2" "c.4540-2A>G" "r.spl" "p.?" "30i"
"0000775026" "00001847" "70" "4773" "3" "4773" "3" "c.4773+3A>G" "r.[4668_4773del,=]" "p.[Tyr1557Alafs*18,=]" "33i"
"0000775027" "00001847" "90" "5196" "1056" "5196" "1056" "c.5196+1056A>G" "r.5196_5197ins5196+880_5196+1056" "p.(Met1733Valfs*2)" "36i"
"0000775028" "00001847" "90" "5196" "1056" "5196" "1056" "c.5196+1056A>G" "r.5196_5197ins5196+880_5196+1056" "p.(Met1733Valfs*2)" "36i"
"0000775029" "00001847" "90" "5196" "1056" "5196" "1056" "c.5196+1056A>G" "r.5196_5197ins5196+880_5196+1056" "p.(Met1733Valfs*2)" "36i"
"0000775030" "00001847" "90" "5196" "1056" "5196" "1056" "c.5196+1056A>G" "r.5196_5197ins5196+880_5196+1056" "p.(Met1733Valfs*2)" "36i"
"0000775031" "00001847" "70" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.[=,5196_5197ins5196+1140_5196+1212]" "p.[=,Met1733Glufs*78]" "36i"
"0000775032" "00001847" "70" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.[=,5196_5197ins5196+1140_5196+1212]" "p.[=,Met1733Glufs*78]" "36i"
"0000775033" "00001847" "70" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.[=,5196_5197ins5196+1140_5196+1212]" "p.[=,Met1733Glufs*78]" "36i"
"0000775034" "00001847" "70" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.[=,5196_5197ins5196+1140_5196+1212]" "p.[=,Met1733Glufs*78]" "36i"
"0000775035" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000775036" "00001847" "90" "5460" "1" "5460" "1" "c.5460+1G>A" "r.spl" "p.?" "38i"
"0000775037" "00001847" "90" "570" "1798" "570" "1798" "c.570+1798A>G" "r.570_571ins570+1733_570+1797" "p.(Phe191Leufs*6)" "5i"
"0000775038" "00001847" "90" "570" "1798" "570" "1798" "c.570+1798A>G" "r.570_571ins570+1733_570+1797" "p.(Phe191Leufs*6)" "5i"
"0000775039" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000775040" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000775041" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000775042" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000775043" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000775044" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000775045" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000775046" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000775047" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000775048" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000775049" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000775050" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000775051" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000775052" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000775053" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000775054" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000775055" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000775056" "00001847" "70" "5836" "-3" "5836" "-3" "c.5836-3C>A" "r.5835_5836ins5836+1_5836+30" "p.(Lys1945_Ile1946Pheins10)" "41i"
"0000775057" "00001847" "90" "6005" "1" "6005" "1" "c.6005+1G>T" "r.spl" "p.?" "43i"
"0000775058" "00001847" "50" "6006" "-609" "6006" "-609" "c.6006-609T>A" "r.=" "p.(=)" "43i"
"0000775059" "00001847" "50" "6006" "-609" "6006" "-609" "c.6006-609T>A" "r.=" "p.(=)" "43i"
"0000775060" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000775061" "00001847" "50" "6006" "-609" "6006" "-609" "c.6006-609T>A" "r.=" "p.(=)" "43i"
"0000775062" "00001847" "50" "6006" "-609" "6006" "-609" "c.6006-609T>A" "r.=" "p.(=)" "43i"
"0000775063" "00001847" "50" "6006" "-609" "6006" "-609" "c.6006-609T>A" "r.=" "p.(=)" "43i"
"0000775064" "00001847" "90" "6148" "-698" "6670" "0" "c.6148-698_6670del" "r.(?)" "p.(?)" "44i"
"0000775065" "00001847" "90" "6386" "2" "6386" "2" "c.6386+2C>G" "r.(?)" "p.(?)" "46i"
"0000775066" "00001847" "90" "6479" "1" "6479" "1" "c.6479+1G>A" "r.spl" "p.?" "47i"
"0000775067" "00001847" "90" "67" "-1845" "160" "345" "c.67-1845_160+345del" "r.(?)" "p.(?)" "1i"
"0000775068" "00001847" "70" "6729" "5" "6729" "19" "c.6729+5_6729+19del" "r.6480_6729del" "p.(Phe2161Cysfs*3)" "48i"
"0000775069" "00001847" "70" "6729" "5" "6729" "19" "c.6729+5_6729+19del" "r.6480_6729del" "p.(Phe2161Cysfs*3)" "48i"
"0000775070" "00001847" "70" "4773" "0" "4773" "0" "c.4773G>C" "r.[4668_5018del,4668_4773del]" "p.(Tyr1557_Val1673del,Tyr1557Alafs*18)" "33"
"0000775071" "00001847" "70" "6342" "0" "6342" "0" "c.6342G>A" "r.(?)" "p.(=)" "46"
"0000775072" "00001847" "70" "3416" "0" "3416" "0" "c.3416A>G" "r.(?)" "p.(Tyr1139Cys)" "23"
"0000775073" "00001847" "50" "6119" "0" "6119" "0" "c.6119G>A" "r.(?)" "p.(Arg2040Gln)" "44"
"0000775074" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000775075" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000775076" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000775077" "00001847" "70" "4793" "0" "4793" "0" "c.4793C>A" "r.(?)" "p.(Ala1598Asp)" "34"
"0000775078" "00001847" "70" "5318" "0" "5318" "0" "c.5318C>T" "r.(?)" "p.(Ala1773Val)" "38"
"0000775079" "00001847" "90" "6108" "0" "6130" "0" "c.6108_6130dup" "r.(?)" "p.(Ala2044Valfs*25)" "44"
"0000775080" "00001847" "70" "4462" "0" "4462" "0" "c.4462T>C" "r.(?)" "p.(Cys1488Arg)" "30"
"0000775081" "00001847" "70" "6448" "0" "6448" "0" "c.6448T>C" "r.(?)" "p.(Cys2150Arg)" "47"
"0000775082" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000775083" "00001847" "70" "6449" "0" "6449" "0" "c.6449G>A" "r.(?)" "p.(Cys2150Tyr)" "47"
"0000775084" "00001847" "70" "6449" "0" "6449" "0" "c.6449G>A" "r.(?)" "p.(Cys2150Tyr)" "47"
"0000775085" "00001847" "70" "6449" "0" "6449" "0" "c.6449G>A" "r.(?)" "p.(Cys2150Tyr)" "47"
"0000775086" "00001847" "70" "161" "0" "161" "0" "c.161G>A" "r.[161_302del,161g>a]" "p.[Cys54Serfs*14,Cys54Tyr]" "3"
"0000775087" "00001847" "70" "323" "0" "323" "0" "c.323A>T" "r.(?)" "p.(Asp108Val)" "4"
"0000775088" "00001847" "70" "3606" "0" "3606" "0" "c.3606T>A" "r.(?)" "p.(Asp1202Glu)" "24"
"0000775089" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000775090" "00001847" "70" "1726" "0" "1726" "0" "c.1726G>C" "r.(?)" "p.(Asp576His)" "12"
"0000775091" "00001847" "50" "1933" "0" "1933" "0" "c.1933G>A" "r.(?)" "p.(Asp645Asn)" "13"
"0000775092" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000775093" "00001847" "50" "1933" "0" "1933" "0" "c.1933G>A" "r.(?)" "p.(Asp645Asn)" "13"
"0000775094" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000775095" "00001847" "90" "3259" "0" "3259" "0" "c.3259G>A" "r.(?)" "p.(Glu1087Lys)" "22"
"0000775096" "00001847" "90" "3259" "0" "3259" "0" "c.3259G>A" "r.(?)" "p.(Glu1087Lys)" "22"
"0000775097" "00001847" "70" "6694" "0" "6694" "0" "c.6694G>A" "r.(?)" "p.(Glu2232Lys)" "48"
"0000775098" "00001847" "70" "4249" "0" "4251" "0" "c.4249_4251del" "r.(?)" "p.(Phe1417del)" "28"
"0000775099" "00001847" "70" "4318" "0" "4318" "0" "c.4318T>G" "r.(?)" "p.(Phe1440Val)" "29"
"0000775100" "00001847" "70" "751" "0" "753" "0" "c.751_753del" "r.(?)" "p.(Phe251del)" "6"
"0000775101" "00001847" "70" "3547" "0" "3547" "0" "c.3547G>T" "r.(?)" "p.(Gly1183Cys)" "24"
"0000775102" "00001847" "50" "4322" "0" "4322" "0" "c.4322G>A" "r.(?)" "p.(Gly1441Asp)" "29"
"0000775103" "00001847" "50" "4328" "0" "4328" "0" "c.4328G>A" "r.(?)" "p.(Arg1443His)" "29"
"0000775104" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000775105" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000775106" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000775107" "00001847" "70" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" "44"
"0000775108" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000775109" "00001847" "90" "4537" "0" "4537" "0" "c.4537del" "r.(?)" "p.(Gln1513Argfs*13)" "30"
"0000775110" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000775111" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000775112" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000775113" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000775114" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000775115" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000775116" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000775117" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000775118" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000775119" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000775120" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000775121" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000775122" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000775123" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000775124" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000775125" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000775126" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000775127" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000775128" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000775129" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000775130" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000775131" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000775132" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000775133" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000775134" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000775135" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000775136" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000775137" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000775138" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000775139" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000775140" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000775141" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000775142" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000775143" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000775144" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000775145" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000775146" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000775147" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000775148" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000775149" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000775150" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000775151" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000775152" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000775153" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000775154" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000775155" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000775156" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000775157" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000775158" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000775159" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000775160" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000775161" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000775162" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000775163" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000775164" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000775165" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000775166" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000775167" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000775168" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000775169" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000775170" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000775171" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000775172" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000775173" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000775174" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000775175" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000775176" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000775177" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000775178" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000775179" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000775180" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000775181" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000775182" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000775183" "00001847" "70" "5959" "0" "5959" "0" "c.5959G>T" "r.(?)" "p.(Gly1987Trp)" "43"
"0000775184" "00001847" "90" "5961" "0" "5964" "0" "c.5961_5964del" "r.(?)" "p.(Asp1988Profs*3)" "43"
"0000775185" "00001847" "70" "2897" "0" "2897" "0" "c.2897G>A" "r.(?)" "p.(Gly966Glu)" "19"
"0000775186" "00001847" "70" "4875" "0" "4875" "0" "c.4875T>A" "r.(?)" "p.(His1625Gln)" "35"
"0000775187" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000775188" "00001847" "70" "5051" "0" "5051" "0" "c.5051T>A" "r.(?)" "p.(Ile1684Asn)" "36"
"0000775189" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000775190" "00001847" "90" "3543" "0" "3543" "0" "c.3543del" "r.(?)" "p.(Lys1182Argfs*14)" "24"
"0000775191" "00001847" "50" "5932" "0" "5932" "0" "c.5932A>G" "r.(?)" "p.(Lys1978Glu)" "43"
"0000775192" "00001847" "50" "3377" "0" "3377" "0" "c.3377T>C" "r.(?)" "p.(Leu1126Pro)" "23"
"0000775193" "00001847" "50" "3413" "0" "3413" "0" "c.3413T>C" "r.(?)" "p.(Leu1138Pro)" "23"
"0000775194" "00001847" "50" "5186" "0" "5186" "0" "c.5186T>C" "r.(?)" "p.(Leu1729Pro)" "36"
"0000775195" "00001847" "50" "5186" "0" "5186" "0" "c.5186T>C" "r.(?)" "p.(Leu1729Pro)" "36"
"0000775196" "00001847" "70" "5351" "0" "5351" "0" "c.5351T>G" "r.(?)" "p.(Leu1784Arg)" "38"
"0000775197" "00001847" "70" "5819" "0" "5819" "0" "c.5819T>A" "r.(?)" "p.(Leu1940Gln)" "41"
"0000775198" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000775199" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000775200" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000775201" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000775202" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000775203" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000775204" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000775205" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000775206" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000775207" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000775208" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000775209" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000775210" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000775211" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000775212" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000775213" "00001847" "70" "6098" "0" "6098" "0" "c.6098T>A" "r.(?)" "p.(Leu2033His)" "44"
"0000775214" "00001847" "70" "6179" "0" "6179" "0" "c.6179T>G" "r.(?)" "p.(Leu2060Arg)" "45"
"0000775215" "00001847" "90" "6419" "0" "6419" "0" "c.6419T>A" "r.(?)" "p.(Leu2140Gln)" "47"
"0000775216" "00001847" "90" "885" "0" "885" "0" "c.885del" "r.(?)" "p.(Leu296Cysfs*4)" "8"
"0000775217" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000775218" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000775219" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000775220" "00001847" "70" "294" "0" "294" "0" "c.294C>G" "r.(?)" "p.(Asn98Lys)" "3"
"0000775221" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000775222" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000775223" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000775224" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000775225" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000775226" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000775227" "00001847" "70" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" "44"
"0000775228" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000775229" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000775230" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000775231" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000775232" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000775233" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000775234" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000775235" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000775236" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000775237" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000775238" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000775239" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000775240" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000775241" "00001847" "70" "3876" "0" "3876" "0" "c.3876G>C" "r.(?)" "p.(Gln1292His)" "27"
"0000775242" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000775243" "00001847" "90" "4234" "0" "4234" "0" "c.4234C>T" "r.(?)" "p.(Gln1412*)" "28"
"0000775244" "00001847" "90" "4234" "0" "4234" "0" "c.4234C>T" "r.(?)" "p.(Gln1412*)" "28"
"0000775245" "00001847" "90" "6658" "0" "6658" "0" "c.6658C>T" "r.(?)" "p.(Gln2220*)" "48"
"0000775246" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000775247" "00001847" "70" "2627" "0" "2627" "0" "c.2627A>C" "r.(?)" "p.(Gln876Pro)" "17"
"0000775248" "00001847" "90" "3292" "0" "3292" "0" "c.3292C>T" "r.(?)" "p.(Arg1098Cys)" "22"
"0000775249" "00001847" "90" "3292" "0" "3292" "0" "c.3292C>T" "r.(?)" "p.(Arg1098Cys)" "22"
"0000775250" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000775251" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000775252" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000775253" "00001847" "70" "3323" "0" "3323" "0" "c.3323G>T" "r.(?)" "p.(Arg1108Leu)" "22"
"0000775254" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000775255" "00001847" "70" "3385" "0" "3385" "0" "c.3385C>T" "r.(?)" "p.(Arg1129Cys)" "23"
"0000775256" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000775257" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000775258" "00001847" "90" "3898" "0" "3898" "0" "c.3898C>T" "r.(?)" "p.(Arg1300*)" "27"
"0000775259" "00001847" "90" "3898" "0" "3898" "0" "c.3898C>T" "r.(?)" "p.(Arg1300*)" "27"
"0000775260" "00001847" "70" "4919" "0" "4919" "0" "c.4919G>A" "r.(?)" "p.(Arg1640Gln)" "35"
"0000775261" "00001847" "70" "4919" "0" "4919" "0" "c.4919G>A" "r.(?)" "p.(Arg1640Gln)" "35"
"0000775262" "00001847" "70" "4919" "0" "4919" "0" "c.4919G>A" "r.(?)" "p.(Arg1640Gln)" "35"
"0000775263" "00001847" "70" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" "44"
"0000775264" "00001847" "70" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" "44"
"0000775265" "00001847" "70" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" "44"
"0000775266" "00001847" "70" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" "44"
"0000775267" "00001847" "70" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" "44"
"0000775268" "00001847" "90" "6088" "0" "6088" "0" "c.6088C>T" "r.(?)" "p.(Arg2030*)" "44"
"0000775269" "00001847" "90" "6088" "0" "6088" "0" "c.6088C>T" "r.(?)" "p.(Arg2030*)" "44"
"0000775270" "00001847" "50" "6119" "0" "6119" "0" "c.6119G>A" "r.(?)" "p.(Arg2040Gln)" "44"
"0000775271" "00001847" "50" "6119" "0" "6119" "0" "c.6119G>A" "r.(?)" "p.(Arg2040Gln)" "44"
"0000775272" "00001847" "90" "6118" "0" "6118" "0" "c.6118C>T" "r.(?)" "p.(Arg2040*)" "44"
"0000775273" "00001847" "70" "6229" "0" "6229" "0" "c.6229C>G" "r.(?)" "p.(Arg2077Gly)" "45"
"0000775274" "00001847" "70" "6229" "0" "6229" "0" "c.6229C>T" "r.(?)" "p.(Arg2077Trp)" "45"
"0000775275" "00001847" "70" "6229" "0" "6229" "0" "c.6229C>T" "r.(?)" "p.(Arg2077Trp)" "45"
"0000775276" "00001847" "70" "6229" "0" "6229" "0" "c.6229C>T" "r.(?)" "p.(Arg2077Trp)" "45"
"0000775277" "00001847" "90" "6316" "0" "6316" "0" "c.6316C>T" "r.(?)" "p.(Arg2106Cys)" "46"
"0000775278" "00001847" "90" "6316" "0" "6316" "0" "c.6316C>T" "r.(?)" "p.(Arg2106Cys)" "46"
"0000775279" "00001847" "90" "6316" "0" "6316" "0" "c.6316C>T" "r.(?)" "p.(Arg2106Cys)" "46"
"0000775280" "00001847" "70" "6317" "0" "6317" "0" "c.6317G>A" "r.(?)" "p.(Arg2106His)" "46"
"0000775281" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000775282" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000775283" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000775284" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000775285" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000775286" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000775287" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000775288" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000775289" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000775290" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000775291" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000775292" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000775293" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000775294" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000775295" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000775296" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000775297" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000775298" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000775299" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000775300" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000775301" "00001847" "90" "6445" "0" "6445" "0" "c.6445C>T" "r.(?)" "p.(Arg2149*)" "47"
"0000775302" "00001847" "70" "1609" "0" "1609" "0" "c.1609C>T" "r.(?)" "p.(Arg537Cys)" "12"
"0000775303" "00001847" "70" "1609" "0" "1609" "0" "c.1609C>T" "r.(?)" "p.(Arg537Cys)" "12"
"0000775304" "00001847" "70" "5087" "0" "5087" "0" "c.5087G>A" "r.(?)" "p.(Ser1696Asn)" "36"
"0000775305" "00001847" "50" "6703" "0" "6703" "0" "c.6703T>C" "r.(?)" "p.(Ser2235Pro)" "48"
"0000775306" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000775307" "00001847" "70" "2385" "0" "2385" "0" "c.2385C>G" "r.(?)" "p.(Ser795Arg)" "16"
"0000775308" "00001847" "70" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" "35"
"0000775309" "00001847" "90" "3056" "0" "3056" "0" "c.3056C>T" "r.(?)" "p.(Thr1019Met)" "21"
"0000775310" "00001847" "70" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" "31"
"0000775311" "00001847" "90" "5935" "0" "5935" "0" "c.5935del" "r.(?)" "p.(Thr1979Glnfs*13)" "43"
"0000775312" "00001847" "50" "5056" "0" "5056" "0" "c.5056G>A" "r.(?)" "p.(Val1686Met)" "36"
"0000775313" "00001847" "50" "5056" "0" "5056" "0" "c.5056G>A" "r.(?)" "p.(Val1686Met)" "36"
"0000775314" "00001847" "90" "5289" "0" "5289" "0" "c.5289del" "r.(?)" "p.(Val1764Trpfs*14)" "37"
"0000775315" "00001847" "90" "5289" "0" "5289" "0" "c.5289del" "r.(?)" "p.(Val1764Trpfs*14)" "37"
"0000775316" "00001847" "90" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973*)" "43"
"0000775317" "00001847" "90" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973*)" "43"
"0000775318" "00001847" "90" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973*)" "43"
"0000775319" "00001847" "90" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973*)" "43"
"0000775320" "00001847" "90" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973*)" "43"
"0000775321" "00001847" "90" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973*)" "43"
"0000775322" "00001847" "90" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973*)" "43"
"0000775323" "00001847" "90" "1561" "0" "1561" "0" "c.1561del" "r.(?)" "p.(Val521Serfs*47)" "12"
"0000775324" "00001847" "90" "2966" "0" "2966" "0" "c.2966T>C" "r.(?)" "p.(Val989Ala)" "20"
"0000775325" "00001847" "90" "2966" "0" "2966" "0" "c.2966T>C" "r.(?)" "p.(Val989Ala)" "20"
"0000775326" "00001847" "90" "2966" "0" "2966" "0" "c.2966T>C" "r.(?)" "p.(Val989Ala)" "20"
"0000775327" "00001847" "70" "4347" "0" "4347" "0" "c.4347G>T" "r.(?)" "p.(Trp1449Cys)" "29"
"0000775328" "00001847" "90" "4437" "0" "4437" "0" "c.4437G>A" "r.(?)" "p.(Trp1479*)" "30"
"0000775329" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000775330" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000775331" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000775332" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000775333" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000775334" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000775335" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000775336" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000775337" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000775338" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000775339" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000775340" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000775341" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000775342" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000775343" "00001847" "90" "5316" "0" "5316" "0" "c.5316G>A" "r.(?)" "p.(Trp1772*)" "38"
"0000775344" "00001847" "70" "6107" "0" "6107" "0" "c.6107A>G" "r.(?)" "p.(Tyr2036Cys)" "44"
"0000775345" "00001847" "70" "3830" "0" "3830" "0" "c.3830C>T" "r.(?)" "p.(Thr1277Met)" "26"
"0000775346" "00001847" "70" "179" "0" "179" "0" "c.179C>T" "r.(?)" "p.(Ala60Val)" "3"
"0000775347" "00001847" "70" "3830" "0" "3830" "0" "c.3830C>T" "r.(?)" "p.(Thr1277Met)" "26"
"0000775348" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000775349" "00001847" "70" "2549" "0" "2549" "0" "c.2549A>G" "r.(?)" "p.(Tyr850Cys)" "16"
"0000775350" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000775351" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000775352" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000775353" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000775354" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000775355" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000775356" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000775357" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000775358" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000775359" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000775360" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000775361" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000775362" "00001847" "70" "4222" "0" "4222" "0" "c.4222T>C" "r.(?)" "p.(Trp1408Arg)" "28"
"0000775363" "00001847" "70" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" "35"
"0000775364" "00001847" "70" "4222" "0" "4222" "0" "c.4222T>C" "r.(?)" "p.(Trp1408Arg)" "28"
"0000775365" "00001847" "70" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" "35"
"0000775366" "00001847" "70" "4222" "0" "4222" "0" "c.4222T>C" "r.(?)" "p.(Trp1408Arg)" "28"
"0000775367" "00001847" "70" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" "35"
"0000775368" "00001847" "70" "1531" "0" "1531" "0" "c.1531C>T" "r.(?)" "p.(Arg511Cys)" "11"
"0000775369" "00001847" "70" "872" "0" "872" "0" "c.872C>T" "r.(?)" "p.(Pro291Leu)" "8"
"0000775370" "00001847" "70" "1531" "0" "1531" "0" "c.1531C>T" "r.(?)" "p.(Arg511Cys)" "11"
"0000775371" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000775372" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000775373" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000775374" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000775375" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000775376" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000775377" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000775378" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000775379" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000775380" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000775381" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000775382" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000775383" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000775384" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000775385" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000775386" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000775387" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000775388" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000775389" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000775390" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000775391" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000775392" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000775393" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000775394" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000775395" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000775396" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000775397" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000775398" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000775399" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000775400" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000775401" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000775402" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000775403" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000775404" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000775405" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000775406" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000775407" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000775408" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000775409" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000775410" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000775411" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000775412" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000775413" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000775414" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000775415" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000775416" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000775417" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000775418" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000775419" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000775420" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000775421" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000775422" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000775423" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000775424" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000775425" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000775426" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000775427" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000775428" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000775429" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000775430" "00001847" "70" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" "35"
"0000775431" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000775432" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000775433" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000775434" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000775435" "00001847" "70" "2300" "0" "2300" "0" "c.2300T>A" "r.(?)" "p.(Val767Asp)" "15"
"0000775436" "00001847" "90" "6445" "0" "6445" "0" "c.6445C>T" "r.(?)" "p.(Arg2149*)" "47"
"0000775437" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000775438" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000775439" "00001847" "70" "1822" "0" "1822" "0" "c.1822T>A" "r.(?)" "p.(Phe608Ile)" "13"
"0000775440" "00001847" "70" "1822" "0" "1822" "0" "c.1822T>A" "r.(?)" "p.(Phe608Ile)" "13"
"0000775441" "00001847" "90" "2041" "0" "2041" "0" "c.2041C>T" "r.(?)" "p.(Arg681*)" "14"
"0000775442" "00001847" "90" "5554" "0" "5554" "0" "c.5554C>T" "r.(?)" "p.(Gln1852*)" "39"
"0000775443" "00001847" "70" "194" "0" "194" "0" "c.194G>A" "r.(?)" "p.(Gly65Glu)" "3"
"0000775444" "00001847" "90" "5196" "1056" "5196" "1056" "c.5196+1056A>G" "r.5196_5197ins5196+880_5196+1056" "p.(Met1733Valfs*2)" "36i"
"0000775445" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000775446" "00001847" "70" "872" "0" "872" "0" "c.872C>T" "r.(?)" "p.(Pro291Leu)" "8"
"0000775447" "00001847" "90" "1906" "0" "1906" "0" "c.1906C>T" "r.(?)" "p.(Gln636*)" "13"
"0000775448" "00001847" "70" "1015" "0" "1015" "0" "c.1015T>G" "r.(?)" "p.(Trp339Gly)" "8"
"0000775449" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000775450" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000775451" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000775452" "00001847" "90" "6445" "0" "6445" "0" "c.6445C>T" "r.(?)" "p.(Arg2149*)" "47"
"0000775453" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000775454" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000775455" "00001847" "50" "4225" "0" "4225" "0" "c.4225A>G" "r.(?)" "p.(Ile1409Val)" "28"
"0000775456" "00001847" "90" "67" "-1" "67" "-1" "c.67-1G>C" "r.spl" "p.?" "1i"
"0000775457" "00001847" "50" "4539" "1321" "4539" "1321" "c.4539+1321A>G" "r.?" "p.(?)" "30"
"0000775458" "00001847" "70" "4773" "3" "4773" "3" "c.4773+3A>G" "r.[4668_4773del,=]" "p.[Tyr1557Alafs*18,=]" "33i"
"0000775459" "00001847" "90" "5196" "1216" "5196" "1216" "c.5196+1216C>A" "r.[=,5196_5197ins5196+1140_5196+1212]" "p.[=,Met1733Glufs*78]" "36i"
"0000775460" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000775461" "00001847" "50" "5065" "0" "5065" "0" "c.5065T>C" "r.(?)" "p.(Ser1689Pro)" "36"
"0000775462" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000775463" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000775464" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000775465" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000775466" "00001847" "50" "4539" "1321" "4539" "1321" "c.4539+1321A>G" "r.?" "p.(?)" "30"
"0000775467" "00001847" "50" "4539" "1321" "4539" "1321" "c.4539+1321A>G" "r.?" "p.(?)" "30"
"0000775468" "00001847" "50" "4539" "2028" "4539" "2028" "c.4539+2028C>T" "r.[=,4539_4540ins[4539+1891_4539+2027;u;4539+2029_4540-2162]]" "p.[=,Arg1514Leufs*36]" "30i"
"0000775469" "00001847" "50" "4539" "2028" "4539" "2028" "c.4539+2028C>T" "r.[=,4539_4540ins[4539+1891_4539+2027;u;4539+2029_4540-2162]]" "p.[=,Arg1514Leufs*36]" "30i"
"0000775470" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000775471" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000775472" "00001847" "50" "191" "0" "191" "0" "c.191C>T" "r.(?)" "p.(Ala64Val)" "3"
"0000775473" "00001847" "90" "3289" "0" "3289" "0" "c.3289A>T" "r.(?)" "p.(Arg1097*)" "22"
"0000775474" "00001847" "70" "3323" "0" "3323" "0" "c.3323G>A" "r.(?)" "p.(Arg1108His)" "22"
"0000775475" "00001847" "70" "6229" "0" "6229" "0" "c.6229C>T" "r.(?)" "p.(Arg2077Trp)" "45"
"0000775476" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000775477" "00001847" "50" "1522" "0" "1522" "0" "c.1522C>T" "r.(?)" "p.(Arg508Cys)" "11"
"0000775478" "00001847" "70" "4462" "0" "4462" "0" "c.4462T>C" "r.(?)" "p.(Cys1488Arg)" "30"
"0000775479" "00001847" "90" "3259" "0" "3259" "0" "c.3259G>A" "r.(?)" "p.(Glu1087Lys)" "22"
"0000775480" "00001847" "70" "2932" "0" "2932" "0" "c.2932G>A" "r.(?)" "p.(Gly978Ser)" "20"
"0000775481" "00001847" "70" "4539" "2001" "4539" "2001" "c.4539+2001G>A" "r.[=,4539_4540ins4539+1891_4540-2162]" "p.[=,Arg1514Leufs*36]" "30i"
"0000775482" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000775483" "00001847" "70" "2915" "0" "2915" "0" "c.2915C>A" "r.(?)" "p.(Thr972Asn)" "19"
"0000775484" "00001847" "90" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973*)" "43"
"0000775485" "00001847" "90" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973*)" "43"
"0000775486" "00001847" "90" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973*)" "43"
"0000775487" "00001847" "70" "3364" "0" "3364" "0" "c.3364G>A" "r.(?)" "p.(Glu1122Lys)" "23"
"0000775488" "00001847" "70" "3364" "0" "3364" "0" "c.3364G>A" "r.(?)" "p.(Glu1122Lys)" "23"
"0000775489" "00001847" "50" "4326" "0" "4326" "0" "c.4326C>A" "r.(?)" "p.(Asn1442Lys)" "29"
"0000775490" "00001847" "90" "4838" "0" "4838" "0" "c.4838del" "r.(?)" "p.(Asp1613Alafs*49)" "34"
"0000775491" "00001847" "70" "4363" "0" "4363" "0" "c.4363T>C" "r.(?)" "p.(Cys1455Arg)" "30"
"0000775492" "00001847" "70" "6449" "0" "6449" "0" "c.6449G>A" "r.(?)" "p.(Cys2150Tyr)" "47"
"0000775493" "00001847" "90" "2999" "0" "3328" "610" "c.2999_3328+610del" "r.(?)" "p.(?)" "20"
"0000775494" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000775495" "00001847" "90" "161" "-1" "161" "-1" "c.161-1G>A" "r.spl" "p.?" "2i"
"0000775496" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000775497" "00001847" "50" "4532" "0" "4532" "0" "c.4532C>G" "r.(?)" "p.(Pro1511Arg)" "30"
"0000775498" "00001847" "70" "4222" "0" "4222" "0" "c.4222T>C" "r.(?)" "p.(Trp1408Arg)" "28"
"0000775499" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.[(768g>u;768_769ins768+1_768+35)]" "p.(Leu257Valfs*17)" "6"
"0000775500" "00001847" "70" "4069" "0" "4069" "0" "c.4069G>A" "r.(?)" "p.(Ala1357Thr)" "27"
"0000775501" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000775502" "00001847" "70" "4793" "0" "4793" "0" "c.4793C>A" "r.(?)" "p.(Ala1598Asp)" "34"
"0000775503" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000775504" "00001847" "70" "6229" "0" "6229" "0" "c.6229C>T" "r.(?)" "p.(Arg2077Trp)" "45"
"0000775505" "00001847" "90" "6416" "0" "6416" "0" "c.6416G>C" "r.(?)" "p.(Arg2139Pro)" "47"
"0000775506" "00001847" "50" "4326" "0" "4326" "0" "c.4326C>A" "r.(?)" "p.(Asn1442Lys)" "29"
"0000775507" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000775508" "00001847" "70" "614" "0" "614" "0" "c.614G>T" "r.(?)" "p.(Cys205Phe)" "6"
"0000775509" "00001847" "70" "6449" "0" "6449" "0" "c.6449G>A" "r.(?)" "p.(Cys2150Tyr)" "47"
"0000775510" "00001847" "90" "1906" "0" "1906" "0" "c.1906C>T" "r.(?)" "p.(Gln636*)" "13"
"0000775511" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000775512" "00001847" "90" "950" "0" "950" "0" "c.950del" "r.(?)" "p.(Gly317Alafs*57)" "8"
"0000775513" "00001847" "70" "1007" "0" "1007" "0" "c.1007C>G" "r.(?)" "p.(Ser336Cys)" "8"
"0000775514" "00001847" "90" "1317" "0" "1317" "0" "c.1317G>A" "r.(?)" "p.(Trp439*)" "10"
"0000775515" "00001847" "90" "1644" "0" "1644" "0" "c.1644G>A" "r.(?)" "p.(Trp548*)" "12"
"0000775516" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.[(768g>u;768_769ins768+1_768+35)]" "p.(Leu257Valfs*17)" "6"
"0000775517" "00001847" "70" "464" "0" "464" "0" "c.464A>T" "r.(?)" "p.(Asp155Val)" "5"
"0000775518" "00001847" "70" "3323" "0" "3323" "0" "c.3323G>A" "r.(?)" "p.(Arg1108His)" "22"
"0000775519" "00001847" "90" "3191" "-2" "3191" "-2" "c.3191-2A>G" "r.spl" "p.?" "21i"
"0000775520" "00001847" "70" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.[=,5196_5197ins5196+1140_5196+1212]" "p.[=,Met1733Glufs*78]" "36i"
"0000775521" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000775522" "00001847" "50" "2532" "0" "2532" "0" "c.2532C>G" "r.(?)" "p.(Leu844=)" "16"
"0000775523" "00001847" "70" "5951" "0" "5951" "0" "c.5951T>G" "r.(?)" "p.(Met1984Arg)" "43"
"0000775524" "00001847" "70" "1253" "0" "1253" "0" "c.1253T>C" "r.(?)" "p.(Phe418Ser)" "10"
"0000775525" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.[(768g>u;768_769ins768+1_768+35)]" "p.(Leu257Valfs*17)" "6"
"0000775526" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000775527" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000775528" "00001847" "70" "6229" "0" "6229" "0" "c.6229C>T" "r.(?)" "p.(Arg2077Trp)" "45"
"0000775529" "00001847" "90" "1957" "0" "1957" "0" "c.1957C>T" "r.(?)" "p.(Arg653Cys)" "14"
"0000775530" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000775531" "00001847" "70" "1822" "0" "1822" "0" "c.1822T>A" "r.(?)" "p.(Phe608Ile)" "13"
"0000775532" "00001847" "70" "5377" "0" "5377" "0" "c.5377G>A" "r.(?)" "p.(Val1793Met)" "38"
"0000775533" "00001847" "70" "1648" "0" "1648" "0" "c.1648G>A" "r.(?)" "p.(Gly550Arg)" "12"
"0000775534" "00001847" "70" "3352" "0" "3352" "0" "c.3352C>G" "r.(?)" "p.(His1118Asp)" "23"
"0000775535" "00001847" "50" "4539" "2028" "4539" "2028" "c.4539+2028C>T" "r.[=,4539_4540ins[4539+1891_4539+2027;u;4539+2029_4540-2162]]" "p.[=,Arg1514Leufs*36]" "30i"
"0000775536" "00001847" "70" "5549" "0" "5549" "0" "c.5549T>C" "r.(?)" "p.(Leu1850Pro)" "39"
"0000775537" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000775538" "00001847" "70" "2273" "0" "2273" "0" "c.2273C>T" "r.(?)" "p.(Ala758Val)" "15"
"0000775539" "00001847" "70" "3323" "0" "3323" "0" "c.3323G>A" "r.(?)" "p.(Arg1108His)" "22"
"0000775540" "00001847" "90" "1957" "0" "1957" "0" "c.1957C>T" "r.(?)" "p.(Arg653Cys)" "14"
"0000775541" "00001847" "50" "4539" "1321" "4539" "1321" "c.4539+1321A>G" "r.?" "p.(?)" "30"
"0000775542" "00001847" "70" "161" "0" "161" "0" "c.161G>A" "r.[161_302del,161g>a]" "p.[Cys54Serfs*14,Cys54Tyr]" "3"
"0000775543" "00001847" "90" "1025" "0" "1038" "0" "c.1025_1038del" "r.(?)" "p.(Asp342Glyfs*6)" "8"
"0000775544" "00001847" "10" "3602" "0" "3602" "0" "c.3602T>G" "r.(?)" "p.(Leu1201Arg)" "24"
"0000775545" "00001847" "70" "6229" "0" "6229" "0" "c.6229C>T" "r.(?)" "p.(Arg2077Trp)" "45"
"0000775546" "00001847" "70" "6449" "0" "6449" "0" "c.6449G>A" "r.(?)" "p.(Cys2150Tyr)" "47"
"0000775547" "00001847" "90" "303" "-3" "303" "-3" "c.303-3C>G" "r.[161_302delins303-2_303-1,302_303ins302-2_302-1]" "p.[Cys54*,Leu102Alafs*14]" "3i"
"0000775548" "00001847" "50" "4539" "1321" "4539" "1321" "c.4539+1321A>G" "r.?" "p.(?)" "30"
"0000775549" "00001847" "10" "3602" "0" "3602" "0" "c.3602T>G" "r.(?)" "p.(Leu1201Arg)" "24"
"0000775550" "00001847" "90" "1819" "0" "1819" "0" "c.1819G>A" "r.(?)" "p.(Gly607Arg)" "13"
"0000775551" "00001847" "50" "5578" "0" "5578" "0" "c.5578C>T" "r.(?)" "p.(Arg1860Trp)" "39"
"0000775552" "00001847" "70" "70" "0" "70" "0" "c.70C>T" "r.(?)" "p.[IIe23IIefs*30,=]" "2"
"0000775553" "00001847" "90" "4234" "0" "4234" "0" "c.4234C>T" "r.(?)" "p.(Gln1412*)" "28"
"0000775554" "00001847" "70" "872" "0" "872" "0" "c.872C>T" "r.(?)" "p.(Pro291Leu)" "8"
"0000775555" "00001847" "90" "1025" "0" "1038" "0" "c.1025_1038del" "r.(?)" "p.(Asp342Glyfs*6)" "8"
"0000775556" "00001847" "70" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" "31"
"0000775557" "00001847" "70" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" "31"
"0000775558" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000775559" "00001847" "70" "6245" "0" "6245" "0" "c.6245C>T" "r.(?)" "p.(Ala2082Val)" "45"
"0000775560" "00001847" "70" "746" "0" "746" "0" "c.746A>G" "r.(?)" "p.(Asp249Gly)" "6"
"0000775561" "00001847" "90" "6166" "0" "6166" "0" "c.6166A>T" "r.(?)" "p.(Lys2056*)" "45"
"0000775562" "00001847" "70" "1913" "0" "1913" "0" "c.1913C>T" "r.(?)" "p.(Pro638Leu)" "13"
"0000775563" "00001847" "90" "1317" "0" "1317" "0" "c.1317G>A" "r.(?)" "p.(Trp439*)" "10"
"0000775564" "00001847" "90" "1239" "1" "1239" "1" "c.1239+1G>A" "r.spl" "p.?" "9i"
"0000775565" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000775566" "00001847" "50" "5338" "0" "5338" "0" "c.5338C>G" "r.(?)" "p.(Pro1780Ala)" "38"
"0000775567" "00001847" "90" "4848" "1" "4848" "1" "c.4848+1G>T" "r.spl" "p.?" "34i"
"0000775568" "00001847" "70" "4462" "0" "4462" "0" "c.4462T>C" "r.(?)" "p.(Cys1488Arg)" "30"
"0000775569" "00001847" "70" "3335" "0" "3335" "0" "c.3335C>A" "r.(?)" "p.(Thr1112Asn)" "23"
"0000775570" "00001847" "70" "5657" "0" "5657" "0" "c.5657G>A" "r.(?)" "p.(Gly1886Glu)" "40"
"0000775571" "00001847" "70" "4539" "2001" "4539" "2001" "c.4539+2001G>A" "r.[=,4539_4540ins4539+1891_4540-2162]" "p.[=,Arg1514Leufs*36]" "30i"
"0000775572" "00001847" "70" "1967" "0" "1967" "0" "c.1967C>T" "r.(?)" "p.(Pro656Leu)" "14"
"0000775573" "00001847" "50" "2401" "0" "2401" "0" "c.2401G>A" "r.(?)" "p.(Ala801Thr)" "16"
"0000775574" "00001847" "50" "1411" "0" "1411" "0" "c.1411G>A" "r.(?)" "p.(Glu471Lys)" "11"
"0000775575" "00001847" "90" "1988" "0" "1988" "0" "c.1988G>A" "r.(?)" "p.(Trp663*)" "14"
"0000775576" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000775577" "00001847" "70" "5646" "0" "5646" "0" "c.5646G>A" "r.(?)" "p.(Met1882Ile)" "40"
"0000775578" "00001847" "90" "4234" "0" "4234" "0" "c.4234C>T" "r.(?)" "p.(Gln1412*)" "28"
"0000775579" "00001847" "90" "5196" "1216" "5196" "1216" "c.5196+1216C>A" "r.[=,5196_5197ins5196+1140_5196+1212]" "p.[=,Met1733Glufs*78]" "36i"
"0000775580" "00001847" "90" "4540" "-1" "4540" "-1" "c.4540-1G>A" "r.spl" "p.?" "30i"
"0000775581" "00001847" "70" "161" "0" "161" "0" "c.161G>A" "r.[161_302del,161g>a]" "p.[Cys54Serfs*14,Cys54Tyr]" "3"
"0000775582" "00001847" "70" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" "35"
"0000775583" "00001847" "90" "3259" "0" "3259" "0" "c.3259G>A" "r.(?)" "p.(Glu1087Lys)" "22"
"0000775584" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000775585" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000775586" "00001847" "90" "3056" "0" "3056" "0" "c.3056C>T" "r.(?)" "p.(Thr1019Met)" "21"
"0000775587" "00001847" "90" "287" "0" "287" "0" "c.287del" "r.(?)" "p.(Asn96Thrfs*19)" "3"
"0000775588" "00001847" "50" "2486" "0" "2486" "0" "c.2486C>T" "r.(?)" "p.(Thr829Met)" "16"
"0000775589" "00001847" "70" "2249" "0" "2249" "0" "c.2249T>C" "r.(?)" "p.(Leu750Pro)" "15"
"0000775590" "00001847" "70" "2249" "0" "2249" "0" "c.2249T>C" "r.(?)" "p.(Leu750Pro)" "15"
"0000775591" "00001847" "90" "6184" "0" "6187" "0" "c.6184_6187del" "r.(?)" "p.(Val2062Thrfs*52)" "45"
"0000775592" "00001847" "70" "1609" "0" "1609" "0" "c.1609C>T" "r.(?)" "p.(Arg537Cys)" "12"
"0000775593" "00001847" "90" "6088" "0" "6088" "0" "c.6088C>T" "r.(?)" "p.(Arg2030*)" "44"
"0000775594" "00001847" "90" "5935" "0" "5935" "0" "c.5935del" "r.(?)" "p.(Thr1979Glnfs*13)" "43"
"0000775595" "00001847" "70" "2300" "0" "2300" "0" "c.2300T>A" "r.(?)" "p.(Val767Asp)" "15"
"0000775596" "00001847" "70" "1921" "0" "1921" "0" "c.1921T>G" "r.(?)" "p.(Cys641Gly)" "13"
"0000775597" "00001847" "90" "2160" "1" "2160" "1" "c.2160+1G>C" "r.spl" "p.?" "14i"
"0000775598" "00001847" "90" "2160" "1" "2160" "1" "c.2160+1G>C" "r.spl" "p.?" "14i"
"0000775599" "00001847" "90" "1239" "1" "1239" "1" "c.1239+1G>C" "r.spl" "p.?" "9i"
"0000775600" "00001847" "70" "6317" "0" "6317" "0" "c.6317G>A" "r.(?)" "p.(Arg2106His)" "46"
"0000775601" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000775602" "00001847" "70" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" "35"
"0000775603" "00001847" "50" "5413" "0" "5413" "0" "c.5413A>G" "r.(?)" "p.(Asn1805Asp)" "38"
"0000775604" "00001847" "90" "4540" "-1" "4540" "-1" "c.4540-1G>A" "r.spl" "p.?" "30i"
"0000775605" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000775606" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000775607" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000775608" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000775609" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000775610" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000775611" "00001847" "90" "769" "-1" "769" "-1" "c.769-1G>T" "r.spl" "p.?" "6i"
"0000775612" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000775613" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000775614" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000775615" "00001847" "90" "1211" "0" "1211" "0" "c.1211C>G" "r.(?)" "p.(Ser404*)" "9"
"0000775616" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000775617" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000775618" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000775619" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000775620" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000775621" "00001847" "90" "4634" "1" "4634" "1" "c.4634+1G>A" "r.spl" "p.?" "31i"
"0000775622" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000775623" "00001847" "90" "4634" "1" "4634" "1" "c.4634+1G>A" "r.spl" "p.?" "31i"
"0000775624" "00001847" "50" "1903" "0" "1903" "0" "c.1903C>A" "r.(?)" "p.(Gln635Lys)" "13"
"0000775625" "00001847" "90" "2626" "0" "2626" "0" "c.2626C>T" "r.(?)" "p.(Gln876*)" "17"
"0000775626" "00001847" "90" "2626" "0" "2626" "0" "c.2626C>T" "r.(?)" "p.(Gln876*)" "17"
"0000775627" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000775628" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000775629" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000775630" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000775631" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000775632" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000775633" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000775634" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000775635" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000775636" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000775637" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000775638" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000775639" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000775640" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000775641" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000775642" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000775643" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000775644" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000775645" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000775646" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000775647" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000775648" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000775649" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000775650" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000775651" "00001847" "90" "6658" "0" "6658" "0" "c.6658C>T" "r.(?)" "p.(Gln2220*)" "48"
"0000775652" "00001847" "90" "6386" "2" "6386" "2" "c.6386+2C>G" "r.(?)" "p.(?)" "46i"
"0000775653" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000775654" "00001847" "90" "1561" "0" "1561" "0" "c.1561del" "r.(?)" "p.(Val521Serfs*47)" "12"
"0000775655" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000775656" "00001847" "70" "1610" "0" "1610" "0" "c.1610G>A" "r.(?)" "p.(Arg537His)" "12"
"0000775657" "00001847" "70" "1993" "0" "1993" "0" "c.1993T>G" "r.(?)" "p.(Tyr665Asp)" "14"
"0000775658" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000775659" "00001847" "50" "4328" "0" "4328" "0" "c.4328G>A" "r.(?)" "p.(Arg1443His)" "29"
"0000775660" "00001847" "70" "2743" "0" "2743" "0" "c.2743G>A" "r.spl?" "p.(Asp915Asn,?)" "18"
"0000775661" "00001847" "50" "4328" "0" "4328" "0" "c.4328G>A" "r.(?)" "p.(Arg1443His)" "29"
"0000775662" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000775663" "00001847" "50" "4328" "0" "4328" "0" "c.4328G>A" "r.(?)" "p.(Arg1443His)" "29"
"0000775664" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000775665" "00001847" "50" "4328" "0" "4328" "0" "c.4328G>A" "r.(?)" "p.(Arg1443His)" "29"
"0000775666" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000775667" "00001847" "50" "4328" "0" "4328" "0" "c.4328G>A" "r.(?)" "p.(Arg1443His)" "29"
"0000775668" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000775669" "00001847" "90" "3329" "-2" "3329" "-2" "c.3329-2A>T" "r.spl" "p.?" "22i"
"0000775670" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000775671" "00001847" "90" "3329" "-2" "3329" "-2" "c.3329-2A>T" "r.spl" "p.?" "22i"
"0000775672" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000775673" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000775674" "00001847" "70" "5044" "0" "5058" "0" "c.5044_5058del" "r.(?)" "p.(Val1682_Val1686del)" "36"
"0000775675" "00001847" "50" "2791" "0" "2791" "0" "c.2791G>A" "r.(?)" "p.(Val931Met)" "19"
"0000775676" "00001847" "70" "5044" "0" "5058" "0" "c.5044_5058del" "r.(?)" "p.(Val1682_Val1686del)" "36"
"0000775677" "00001847" "70" "4340" "0" "4340" "0" "c.4340A>T" "r.(?)" "p.(Glu1447Val)" "29"
"0000775678" "00001847" "70" "5044" "0" "5058" "0" "c.5044_5058del" "r.(?)" "p.(Val1682_Val1686del)" "36"
"0000775679" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000775680" "00001847" "70" "5044" "0" "5058" "0" "c.5044_5058del" "r.(?)" "p.(Val1682_Val1686del)" "36"
"0000775681" "00001847" "90" "3056" "0" "3056" "0" "c.3056C>T" "r.(?)" "p.(Thr1019Met)" "21"
"0000775682" "00001847" "70" "5044" "0" "5058" "0" "c.5044_5058del" "r.(?)" "p.(Val1682_Val1686del)" "36"
"0000775683" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000775684" "00001847" "70" "5044" "0" "5058" "0" "c.5044_5058del" "r.(?)" "p.(Val1682_Val1686del)" "36"
"0000775685" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000775686" "00001847" "70" "5044" "0" "5058" "0" "c.5044_5058del" "r.(?)" "p.(Val1682_Val1686del)" "36"
"0000775687" "00001847" "70" "66" "0" "66" "0" "c.66G>T" "r.spl?" "p.(Lys22Asn,?)" "1"
"0000775688" "00001847" "70" "66" "0" "66" "0" "c.66G>T" "r.spl?" "p.(Lys22Asn,?)" "1"
"0000775689" "00001847" "70" "5044" "0" "5058" "0" "c.5044_5058del" "r.(?)" "p.(Val1682_Val1686del)" "36"
"0000775690" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000775691" "00001847" "50" "4328" "0" "4328" "0" "c.4328G>A" "r.(?)" "p.(Arg1443His)" "29"
"0000775692" "00001847" "90" "6316" "0" "6316" "0" "c.6316C>T" "r.(?)" "p.(Arg2106Cys)" "46"
"0000775693" "00001847" "90" "2345" "0" "2345" "0" "c.2345G>A" "r.(?)" "p.(Trp782*)" "15"
"0000775694" "00001847" "90" "6316" "0" "6316" "0" "c.6316C>T" "r.(?)" "p.(Arg2106Cys)" "46"
"0000775695" "00001847" "90" "2345" "0" "2345" "0" "c.2345G>A" "r.(?)" "p.(Trp782*)" "15"
"0000775696" "00001847" "50" "5682" "0" "5682" "0" "c.5682G>C" "r.(?)" "p.(=)" "40"
"0000775697" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000775698" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000775699" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000775700" "00001847" "10" "5843" "0" "5843" "0" "c.5843C>T" "r.(?)" "p.(Pro1948Leu)" "42"
"0000775701" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000775702" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000775703" "00001847" "90" "2966" "0" "2966" "0" "c.2966T>C" "r.(?)" "p.(Val989Ala)" "20"
"0000775704" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000775705" "00001847" "90" "4710" "0" "4710" "0" "c.4710del" "r.(?)" "p.(Ile1571Serfs*10)" "33"
"0000775706" "00001847" "90" "5196" "2" "5196" "2" "c.5196+2T>G" "r.spl" "p.?" "36i"
"0000775707" "00001847" "90" "247" "0" "250" "0" "c.247_250dup" "r.(?)" "p.(Ser84Thrfs*16)" "3"
"0000775708" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>C" "r.(?)" "p.(Gly1961Ala)" "42"
"0000775709" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000775710" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000775711" "00001847" "50" "1522" "0" "1522" "0" "c.1522C>T" "r.(?)" "p.(Arg508Cys)" "11"
"0000775712" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>C" "r.(?)" "p.(Gly1961Ala)" "42"
"0000775713" "00001847" "70" "2461" "0" "2461" "0" "c.2461T>A" "r.(?)" "p.(Trp821Arg)" "16"
"0000775714" "00001847" "70" "2549" "0" "2549" "0" "c.2549A>G" "r.(?)" "p.(Tyr850Cys)" "16"
"0000775715" "00001847" "70" "3806" "0" "3806" "0" "c.3806T>C" "r.(?)" "p.(Leu1269Pro)" "25"
"0000775716" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>C" "r.(?)" "p.(Gly1961Ala)" "42"
"0000775717" "00001847" "90" "2971" "0" "2971" "0" "c.2971G>C" "r.(?)" "p.(Gly991Arg)" "20"
"0000775718" "00001847" "90" "4539" "1" "4539" "1" "c.4539+1G>T" "r.spl" "p.?" "30i"
"0000775719" "00001847" "90" "2768" "0" "2768" "0" "c.2768del" "r.(?)" "p.(Pro923Glnfs*9)" "19"
"0000775720" "00001847" "90" "5018" "2" "5018" "2" "c.5018+2T>C" "r.spl" "p.?" "35i"
"0000775721" "00001847" "70" "2549" "0" "2549" "0" "c.2549A>G" "r.(?)" "p.(Tyr850Cys)" "16"
"0000775722" "00001847" "70" "3607" "0" "3607" "0" "c.3607G>A" "r.3523_3607del" "p.(Thr1176Metfs*2)" "24"
"0000775723" "00001847" "70" "2875" "0" "2875" "0" "c.2875A>G" "r.(?)" "p.(Thr959Ala)" "19"
"0000775724" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>C" "r.(?)" "p.(Gly1961Ala)" "42"
"0000775725" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>C" "r.(?)" "p.(Gly1961Ala)" "42"
"0000775726" "00001847" "90" "4200" "0" "4200" "0" "c.4200C>A" "r.(?)" "p.(Tyr1400*)" "28"
"0000775727" "00001847" "90" "571" "-2" "571" "-2" "c.571-2A>T" "r.spl" "p.?" "5i"
"0000775728" "00001847" "70" "5087" "0" "5087" "0" "c.5087G>A" "r.(?)" "p.(Ser1696Asn)" "36"
"0000775729" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>C" "r.(?)" "p.(Gly1961Ala)" "42"
"0000775730" "00001847" "90" "1937" "1" "1937" "1" "c.1937+1G>A" "r.spl" "p.?" "13i"
"0000775731" "00001847" "50" "5138" "0" "5138" "0" "c.5138A>G" "r.(?)" "p.(Gln1713Arg)" "36"
"0000775732" "00001847" "90" "247" "0" "250" "0" "c.247_250dup" "r.(?)" "p.(Ser84Thrfs*16)" "3"
"0000775733" "00001847" "90" "247" "0" "250" "0" "c.247_250dup" "r.(?)" "p.(Ser84Thrfs*16)" "3"
"0000775734" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000775735" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.[(768g>u;768_769ins768+1_768+35)]" "p.(Leu257Valfs*17)" "6"
"0000775736" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000775737" "00001847" "90" "5161" "0" "5162" "0" "c.5161_5162del" "r.(?)" "p.(Thr1721Hisfs*65)" "36"
"0000775738" "00001847" "70" "6097" "0" "6097" "0" "c.6097C>T" "r.(?)" "p.(Leu2033Phe)" "44"
"0000775739" "00001847" "70" "4463" "0" "4463" "0" "c.4463G>A" "r.(?)" "p.(Cys1488Tyr)" "30"
"0000775740" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000775741" "00001847" "50" "4506" "0" "4506" "0" "c.4506C>T" "r.(?)" "p.(=)" "30"
"0000775742" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000775743" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000775744" "00001847" "90" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973*)" "43"
"0000775745" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.[(768g>u;768_769ins768+1_768+35)]" "p.(Leu257Valfs*17)" "6"
"0000775746" "00001847" "70" "1610" "0" "1610" "0" "c.1610G>A" "r.(?)" "p.(Arg537His)" "12"
"0000775747" "00001847" "70" "5537" "0" "5537" "0" "c.5537T>C" "r.(?)" "p.(Ile1846Thr)" "39"
"0000775748" "00001847" "50" "317" "0" "317" "0" "c.317A>T" "r.(?)" "p.(Tyr106Phe)" "4"
"0000775749" "00001847" "90" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973*)" "43"
"0000775750" "00001847" "70" "4253" "4" "4253" "4" "c.4253+4C>T" "r.4129_4253del" "p.(Ile1377Hisfs*3)" "28i"
"0000775751" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000775752" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000775753" "00001847" "70" "4249" "0" "4251" "0" "c.4249_4251del" "r.(?)" "p.(Phe1417del)" "28"
"0000775754" "00001847" "90" "4773" "1" "4773" "1" "c.4773+1G>A" "r.spl" "p.?" "33i"
"0000775755" "00001847" "70" "1798" "0" "1798" "0" "c.1798G>T" "r.(?)" "p.(Asp600Tyr)" "13"
"0000775756" "00001847" "70" "6112" "0" "6112" "0" "c.6112C>T" "r.(?)" "p.(Arg2038Trp)" "44"
"0000775757" "00001847" "70" "4253" "4" "4253" "4" "c.4253+4C>T" "r.4129_4253del" "p.(Ile1377Hisfs*3)" "28i"
"0000775758" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000775759" "00001847" "70" "4363" "0" "4363" "0" "c.4363T>C" "r.(?)" "p.(Cys1455Arg)" "30"
"0000775760" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000775761" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000775762" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000775763" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000775764" "00001847" "70" "53" "0" "53" "0" "c.53G>A" "r.(?)" "p.(Arg18Gln)" "1"
"0000775765" "00001847" "90" "4667" "2" "4667" "2" "c.4667+2T>C" "r.spl" "p.?" "32i"
"0000775766" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000775767" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000775768" "00001847" "70" "4253" "4" "4253" "4" "c.4253+4C>T" "r.4129_4253del" "p.(Ile1377Hisfs*3)" "28i"
"0000775769" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000775770" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000775771" "00001847" "50" "1654" "0" "1654" "0" "c.1654G>A" "r.(?)" "p.(Val552Ile)" "12"
"0000775772" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000775773" "00001847" "50" "1492" "0" "1492" "0" "c.1492G>A" "r.(?)" "p.(Asp498Asn)" "11"
"0000775774" "00001847" "70" "4016" "0" "4017" "0" "c.4016_4017insN[24]" "r.(?)" "p.(?)" "27"
"0000775775" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000775776" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000775777" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000775778" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000775779" "00001847" "90" "6445" "0" "6445" "0" "c.6445C>T" "r.(?)" "p.(Arg2149*)" "47"
"0000775780" "00001847" "50" "5065" "0" "5065" "0" "c.5065T>C" "r.(?)" "p.(Ser1689Pro)" "36"
"0000775781" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000775782" "00001847" "50" "1964" "0" "1964" "0" "c.1964T>G" "r.(?)" "p.(Phe655Cys)" "14"
"0000775783" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000775784" "00001847" "70" "401" "0" "402" "0" "c.401_402insN[24]" "r.(?)" "p.(?)" "4"
"0000775785" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000775786" "00001847" "70" "2846" "0" "2846" "0" "c.2846T>G" "r.(?)" "p.(Leu949Arg)" "19"
"0000775787" "00001847" "90" "6445" "0" "6445" "0" "c.6445C>T" "r.(?)" "p.(Arg2149*)" "47"
"0000775788" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000775789" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000775790" "00001847" "70" "2846" "0" "2846" "0" "c.2846T>G" "r.(?)" "p.(Leu949Arg)" "19"
"0000775791" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000775792" "00001847" "70" "2846" "0" "2846" "0" "c.2846T>G" "r.(?)" "p.(Leu949Arg)" "19"
"0000775793" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000775812" "00001847" "90" "4635" "-1" "5714" "1" "c.(4634+1_4635-1)_(5714+1_5715-1)dup" "r.?" "p.?" "31i_40i"
"0000775819" "00001847" "90" "2041" "0" "2041" "0" "c.2041C>T" "r.(?)" "p.(Arg681*)" "14"
"0000775820" "00001847" "70" "4635" "-1" "5714" "1" "c.(4634+1_4635-1)_(5714+1_5715-1)dup" "r.?" "p.?" "31i_40i"
"0000775821" "00001847" "90" "2041" "0" "2041" "0" "c.2041C>T" "r.(?)" "p.(Arg681*)" "14"
"0000775822" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000775823" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000775824" "00001847" "50" "1654" "0" "1654" "0" "c.1654G>A" "r.(?)" "p.(Val552Ile)" "12"
"0000775825" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000775826" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000775827" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000775828" "00001847" "50" "1343" "0" "1343" "0" "c.1343T>A" "r.(?)" "p.(Met448Lys)" "10"
"0000775829" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000775830" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000775831" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000775832" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000775833" "00001847" "90" "4234" "0" "4234" "0" "c.4234C>T" "r.(?)" "p.(Gln1412*)" "28"
"0000775834" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000775835" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000775836" "00001847" "70" "286" "0" "286" "0" "c.286A>G" "r.(?)" "p.(Asn96Asp)" "3"
"0000775837" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000775838" "00001847" "70" "6448" "0" "6448" "0" "c.6448T>C" "r.(?)" "p.(Cys2150Arg)" "47"
"0000775839" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000775840" "00001847" "90" "6316" "0" "6316" "0" "c.6316C>T" "r.(?)" "p.(Arg2106Cys)" "46"
"0000775841" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000775842" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000775843" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000775844" "00001847" "50" "1938" "-822" "1938" "-808" "c.1938-822_1938-808del" "r.(?)" "p.(?)" "13i"
"0000775845" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000775846" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000775847" "00001847" "70" "286" "0" "286" "0" "c.286A>G" "r.(?)" "p.(Asn96Asp)" "3"
"0000775848" "00001847" "70" "6317" "0" "6317" "0" "c.6317G>A" "r.(?)" "p.(Arg2106His)" "46"
"0000775849" "00001847" "70" "1844" "0" "1844" "0" "c.1844T>C" "r.(?)" "p.(Val615Ala)" "13"
"0000775850" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000775851" "00001847" "30" "768" "358" "768" "358" "c.768+358C>T" "r.=" "p.(=)" "6i"
"0000775852" "00001847" "70" "2918" "5" "2918" "5" "c.2918+5G>A" "r.(?)" "p.(?)" "19"
"0000775853" "00001847" "70" "4253" "43" "4253" "43" "c.4253+43G>A" "r.[=,4129_4253del]" "p.[=,Ile1377Hisfs*3]" "28i"
"0000775854" "00001847" "50" "6006" "-609" "6006" "-609" "c.6006-609T>A" "r.=" "p.(=)" "43i"
"0000775855" "00001847" "70" "4253" "43" "4253" "43" "c.4253+43G>A" "r.[=,4129_4253del]" "p.[=,Ile1377Hisfs*3]" "28i"
"0000775856" "00001847" "50" "6006" "-609" "6006" "-609" "c.6006-609T>A" "r.=" "p.(=)" "43i"
"0000775857" "00001847" "70" "4253" "43" "4253" "43" "c.4253+43G>A" "r.[=,4129_4253del]" "p.[=,Ile1377Hisfs*3]" "28i"
"0000775858" "00001847" "70" "4253" "43" "4253" "43" "c.4253+43G>A" "r.[=,4129_4253del]" "p.[=,Ile1377Hisfs*3]" "28i"
"0000775859" "00001847" "70" "4253" "43" "4253" "43" "c.4253+43G>A" "r.[=,4129_4253del]" "p.[=,Ile1377Hisfs*3]" "28i"
"0000775860" "00001847" "50" "6006" "-609" "6006" "-609" "c.6006-609T>A" "r.=" "p.(=)" "43i"
"0000775861" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000775862" "00001847" "70" "4253" "43" "4253" "43" "c.4253+43G>A" "r.[=,4129_4253del]" "p.[=,Ile1377Hisfs*3]" "28i"
"0000775863" "00001847" "50" "6006" "-609" "6006" "-609" "c.6006-609T>A" "r.=" "p.(=)" "43i"
"0000775864" "00001847" "70" "4253" "43" "4253" "43" "c.4253+43G>A" "r.[=,4129_4253del]" "p.[=,Ile1377Hisfs*3]" "28i"
"0000775865" "00001847" "70" "4253" "43" "4253" "43" "c.4253+43G>A" "r.[=,4129_4253del]" "p.[=,Ile1377Hisfs*3]" "28i"
"0000775866" "00001847" "90" "1988" "0" "1988" "0" "c.1988G>A" "r.(?)" "p.(Trp663*)" "14"
"0000775867" "00001847" "50" "6006" "-609" "6006" "-609" "c.6006-609T>A" "r.=" "p.(=)" "43i"
"0000775868" "00001847" "70" "4253" "43" "4253" "43" "c.4253+43G>A" "r.[=,4129_4253del]" "p.[=,Ile1377Hisfs*3]" "28i"
"0000775869" "00001847" "50" "6006" "-609" "6006" "-609" "c.6006-609T>A" "r.=" "p.(=)" "43i"
"0000775870" "00001847" "70" "4253" "43" "4253" "43" "c.4253+43G>A" "r.[=,4129_4253del]" "p.[=,Ile1377Hisfs*3]" "28i"
"0000775871" "00001847" "50" "6006" "-609" "6006" "-609" "c.6006-609T>A" "r.=" "p.(=)" "43i"
"0000775872" "00001847" "70" "4253" "43" "4253" "43" "c.4253+43G>A" "r.[=,4129_4253del]" "p.[=,Ile1377Hisfs*3]" "28i"
"0000775873" "00001847" "70" "4253" "43" "4253" "43" "c.4253+43G>A" "r.[=,4129_4253del]" "p.[=,Ile1377Hisfs*3]" "28i"
"0000775874" "00001847" "70" "4253" "43" "4253" "43" "c.4253+43G>A" "r.[=,4129_4253del]" "p.[=,Ile1377Hisfs*3]" "28i"
"0000775875" "00001847" "70" "4253" "43" "4253" "43" "c.4253+43G>A" "r.[=,4129_4253del]" "p.[=,Ile1377Hisfs*3]" "28i"
"0000775876" "00001847" "50" "6006" "-609" "6006" "-609" "c.6006-609T>A" "r.=" "p.(=)" "43i"
"0000775877" "00001847" "70" "4253" "43" "4253" "43" "c.4253+43G>A" "r.[=,4129_4253del]" "p.[=,Ile1377Hisfs*3]" "28i"
"0000775878" "00001847" "50" "6006" "-609" "6006" "-609" "c.6006-609T>A" "r.=" "p.(=)" "43i"
"0000775879" "00001847" "70" "4253" "43" "4253" "43" "c.4253+43G>A" "r.[=,4129_4253del]" "p.[=,Ile1377Hisfs*3]" "28i"
"0000775880" "00001847" "50" "6006" "-609" "6006" "-609" "c.6006-609T>A" "r.=" "p.(=)" "43i"
"0000775881" "00001847" "70" "4253" "43" "4253" "43" "c.4253+43G>A" "r.[=,4129_4253del]" "p.[=,Ile1377Hisfs*3]" "28i"
"0000775882" "00001847" "50" "6006" "-609" "6006" "-609" "c.6006-609T>A" "r.=" "p.(=)" "43i"
"0000775883" "00001847" "70" "4253" "43" "4253" "43" "c.4253+43G>A" "r.[=,4129_4253del]" "p.[=,Ile1377Hisfs*3]" "28i"
"0000775884" "00001847" "50" "6006" "-609" "6006" "-609" "c.6006-609T>A" "r.=" "p.(=)" "43i"
"0000775885" "00001847" "70" "4253" "43" "4253" "43" "c.4253+43G>A" "r.[=,4129_4253del]" "p.[=,Ile1377Hisfs*3]" "28i"
"0000775886" "00001847" "50" "6006" "-609" "6006" "-609" "c.6006-609T>A" "r.=" "p.(=)" "43i"
"0000775887" "00001847" "70" "4253" "43" "4253" "43" "c.4253+43G>A" "r.[=,4129_4253del]" "p.[=,Ile1377Hisfs*3]" "28i"
"0000775888" "00001847" "70" "4253" "43" "4253" "43" "c.4253+43G>A" "r.[=,4129_4253del]" "p.[=,Ile1377Hisfs*3]" "28i"
"0000775889" "00001847" "70" "4253" "43" "4253" "43" "c.4253+43G>A" "r.[=,4129_4253del]" "p.[=,Ile1377Hisfs*3]" "28i"
"0000775890" "00001847" "90" "2041" "0" "2041" "0" "c.2041C>T" "r.(?)" "p.(Arg681*)" "14"
"0000775891" "00001847" "70" "4253" "43" "4253" "43" "c.4253+43G>A" "r.[=,4129_4253del]" "p.[=,Ile1377Hisfs*3]" "28i"
"0000775892" "00001847" "70" "5308" "0" "5308" "0" "c.5308T>G" "r.(?)" "p.(Tyr1770Asp)" "37"
"0000775893" "00001847" "70" "4253" "43" "4253" "43" "c.4253+43G>A" "r.[=,4129_4253del]" "p.[=,Ile1377Hisfs*3]" "28i"
"0000775894" "00001847" "50" "6006" "-609" "6006" "-609" "c.6006-609T>A" "r.=" "p.(=)" "43i"
"0000775895" "00001847" "70" "4253" "43" "4253" "43" "c.4253+43G>A" "r.[=,4129_4253del]" "p.[=,Ile1377Hisfs*3]" "28i"
"0000775896" "00001847" "50" "6006" "-609" "6006" "-609" "c.6006-609T>A" "r.=" "p.(=)" "43i"
"0000775897" "00001847" "90" "5196" "1056" "5196" "1056" "c.5196+1056A>G" "r.5196_5197ins5196+880_5196+1056" "p.(Met1733Valfs*2)" "36i"
"0000775898" "00001847" "90" "5196" "1056" "5196" "1056" "c.5196+1056A>G" "r.5196_5197ins5196+880_5196+1056" "p.(Met1733Valfs*2)" "36i"
"0000775899" "00001847" "90" "5196" "1056" "5196" "1056" "c.5196+1056A>G" "r.5196_5197ins5196+880_5196+1056" "p.(Met1733Valfs*2)" "36i"
"0000775900" "00001847" "90" "5196" "1056" "5196" "1056" "c.5196+1056A>G" "r.5196_5197ins5196+880_5196+1056" "p.(Met1733Valfs*2)" "36i"
"0000775901" "00001847" "90" "5196" "1056" "5196" "1056" "c.5196+1056A>G" "r.5196_5197ins5196+880_5196+1056" "p.(Met1733Valfs*2)" "36i"
"0000775902" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000775903" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000775904" "00001847" "50" "4352" "4" "4352" "4" "c.4352+4A>C" "r.(?)" "p.(?)" "29i"
"0000775905" "00001847" "70" "6437" "0" "6437" "0" "c.6437G>A" "r.(?)" "p.(Gly2146Asp)" "47"
"0000775906" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000775907" "00001847" "90" "4352" "1" "4352" "1" "c.4352+1G>A" "r.spl" "p.?" "29i"
"0000775908" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000775909" "00001847" "90" "4346" "0" "4346" "0" "c.4346G>A" "r.(?)" "p.(Trp1449*)" "29"
"0000775910" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000775911" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000775912" "00001847" "90" "319" "0" "319" "0" "c.319C>T" "r.(?)" "p.(Arg107*)" "4"
"0000775913" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000775914" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000775915" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000775916" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000775917" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000775918" "00001847" "70" "428" "0" "428" "0" "c.428C>T" "r.(?)" "p.(Pro143Leu)" "4"
"0000775919" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000775920" "00001847" "90" "1819" "0" "1819" "0" "c.1819G>A" "r.(?)" "p.(Gly607Arg)" "13"
"0000775921" "00001847" "70" "5087" "0" "5087" "0" "c.5087G>A" "r.(?)" "p.(Ser1696Asn)" "36"
"0000775922" "00001847" "70" "4462" "0" "4462" "0" "c.4462T>C" "r.(?)" "p.(Cys1488Arg)" "30"
"0000775923" "00001847" "70" "3812" "0" "3812" "0" "c.3812A>G" "r.3608_3813del" "p.(Gly1203Aspfs*10)" "25"
"0000775924" "00001847" "50" "868" "0" "868" "0" "c.868C>T" "r.(?)" "p.(Arg290Trp)" "8"
"0000775925" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000775926" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000775927" "00001847" "70" "6112" "0" "6112" "0" "c.6112C>T" "r.(?)" "p.(Arg2038Trp)" "44"
"0000775928" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000775929" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000775930" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000775931" "00001847" "90" "5714" "1" "5714" "1" "c.5714+1G>C" "r.spl?" "p.(?)" "40i"
"0000775932" "00001847" "90" "3259" "0" "3259" "0" "c.3259G>A" "r.(?)" "p.(Glu1087Lys)" "22"
"0000775933" "00001847" "90" "3342" "0" "3342" "0" "c.3342del" "r.(?)" "p.(Met1115Cysfs*33)" "23"
"0000775934" "00001847" "90" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973*)" "43"
"0000775935" "00001847" "90" "1819" "0" "1819" "0" "c.1819G>A" "r.(?)" "p.(Gly607Arg)" "13"
"0000775936" "00001847" "90" "4234" "0" "4234" "0" "c.4234C>T" "r.(?)" "p.(Gln1412*)" "28"
"0000775937" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000775938" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000775939" "00001847" "90" "4352" "1" "4352" "1" "c.4352+1G>A" "r.spl" "p.?" "29i"
"0000775940" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000775941" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000775942" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000775943" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000775944" "00001847" "50" "1933" "0" "1933" "0" "c.1933G>A" "r.(?)" "p.(Asp645Asn)" "13"
"0000775945" "00001847" "90" "36" "0" "36" "0" "c.36G>A" "r.(?)" "p.(Trp12*)" "1"
"0000775946" "00001847" "70" "3323" "0" "3323" "0" "c.3323G>T" "r.(?)" "p.(Arg1108Leu)" "22"
"0000775947" "00001847" "70" "4875" "0" "4875" "0" "c.4875T>A" "r.(?)" "p.(His1625Gln)" "35"
"0000775948" "00001847" "90" "1819" "0" "1819" "0" "c.1819G>A" "r.(?)" "p.(Gly607Arg)" "13"
"0000775949" "00001847" "50" "4771" "0" "4771" "0" "c.4771G>A" "r.(?)" "p.(Gly1591Arg)" "33"
"0000775950" "00001847" "90" "2626" "0" "2626" "0" "c.2626C>T" "r.(?)" "p.(Gln876*)" "17"
"0000775951" "00001847" "70" "6077" "0" "6077" "0" "c.6077T>C" "r.(?)" "p.(Leu2026Pro)" "44"
"0000775952" "00001847" "70" "3608" "0" "3608" "0" "c.3608G>A" "r.[3608g>a,3608_3813del]" "p.[Gly1203Glu,Gly1203Aspfs*10]" "25"
"0000775953" "00001847" "70" "5460" "4" "5460" "4" "c.5460+4A>G" "r.(spl)" "p.?" "38i"
"0000775954" "00001847" "10" "3602" "0" "3602" "0" "c.3602T>G" "r.(?)" "p.(Leu1201Arg)" "24"
"0000775955" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000775956" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000775957" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000775958" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000775959" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000775960" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000775961" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000775962" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000775963" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000775964" "00001847" "70" "4532" "0" "4532" "0" "c.4532C>A" "r.(?)" "p.(Pro1511His)" "30"
"0000775965" "00001847" "90" "3259" "0" "3259" "0" "c.3259G>A" "r.(?)" "p.(Glu1087Lys)" "22"
"0000775966" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000775967" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000775968" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000775969" "00001847" "90" "5337" "0" "5337" "0" "c.5337C>G" "r.(?)" "p.(Tyr1779*)" "38"
"0000775970" "00001847" "70" "6449" "0" "6449" "0" "c.6449G>A" "r.(?)" "p.(Cys2150Tyr)" "47"
"0000775971" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000775972" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000775973" "00001847" "90" "2966" "0" "2966" "0" "c.2966T>C" "r.(?)" "p.(Val989Ala)" "20"
"0000775974" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000775975" "00001847" "90" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071Cysfs*14)" "22"
"0000775976" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000775977" "00001847" "50" "6148" "0" "6148" "0" "c.6148G>C" "r.=" "p.(Val2050Leu)" "45"
"0000775978" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000775979" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000775980" "00001847" "90" "5018" "5" "5018" "5" "c.5018+5G>A" "r.4849_5018del" "p.(Val1617Alafs*113)" "35i"
"0000775981" "00001847" "70" "3287" "0" "3287" "0" "c.3287C>T" "r.(?)" "p.(Ser1096Leu)" "22"
"0000775982" "00001847" "10" "3602" "0" "3602" "0" "c.3602T>G" "r.(?)" "p.(Leu1201Arg)" "24"
"0000775983" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000775984" "00001847" "90" "6005" "1" "6005" "1" "c.6005+1G>T" "r.spl" "p.?" "43i"
"0000775985" "00001847" "90" "2383" "-1" "2383" "-1" "c.2383-1G>A" "r.spl" "p.?" "15i"
"0000775986" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000775987" "00001847" "50" "4774" "-30" "4774" "-30" "c.4774-30G>A" "r.(?)" "p.(?)" "33i"
"0000775988" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000775989" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000775990" "00001847" "70" "6729" "5" "6729" "19" "c.6729+5_6729+19del" "r.6480_6729del" "p.(Phe2161Cysfs*3)" "48i"
"0000775991" "00001847" "70" "2609" "0" "2609" "0" "c.2609C>T" "r.(?)" "p.(Pro870Leu)" "17"
"0000775992" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000775993" "00001847" "70" "4594" "0" "4594" "0" "c.4594G>A" "r.(?)" "p.(Asp1532Asn)" "31"
"0000775994" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000775995" "00001847" "70" "4793" "0" "4793" "0" "c.4793C>A" "r.(?)" "p.(Ala1598Asp)" "34"
"0000775996" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000775997" "00001847" "70" "5311" "0" "5311" "0" "c.5311G>A" "r.(?)" "p.(Gly1771Arg)" "37"
"0000775998" "00001847" "50" "5584" "14" "5584" "14" "c.5584+14G>A" "r.(?)" "p.(?)" "39i"
"0000775999" "00001847" "90" "2971" "0" "2971" "0" "c.2971G>C" "r.(?)" "p.(Gly991Arg)" "20"
"0000776000" "00001847" "10" "3899" "0" "3899" "0" "c.3899G>A" "r.(?)" "p.(Arg1300Gln)" "27"
"0000776001" "00001847" "50" "5056" "0" "5056" "0" "c.5056G>A" "r.(?)" "p.(Val1686Met)" "36"
"0000776002" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000776003" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000776004" "00001847" "90" "3056" "0" "3056" "0" "c.3056C>T" "r.(?)" "p.(Thr1019Met)" "21"
"0000776005" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000776006" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000776007" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000776008" "00001847" "90" "5196" "1" "5196" "1" "c.5196+1G>A" "r.spl" "p.?" "36i"
"0000776009" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000776010" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000776011" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000776012" "00001847" "70" "1927" "0" "1927" "0" "c.1927G>A" "r.(?)" "p.(Val643Met)" "13"
"0000776013" "00001847" "90" "2977" "0" "2984" "0" "c.2977_2984del" "r.(?)" "p.(Asp993Asnfs*27)" "20"
"0000776014" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000776015" "00001847" "90" "6319" "0" "6319" "0" "c.6319C>T" "r.(?)" "p.(Arg2107Cys)" "46"
"0000776016" "00001847" "50" "5835" "5" "5835" "5" "c.5835+5G>A" "r.(?)" "p.(?)" "41i"
"0000776017" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000776018" "00001847" "70" "5936" "0" "5936" "0" "c.5936C>T" "r.(?)" "p.(Thr1979Ile)" "43"
"0000776019" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000776020" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000776021" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000776022" "00001847" "90" "6693" "0" "6693" "0" "c.6693del" "r.(?)" "p.(Ile2231Metfs*16)" "48"
"0000776023" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000776024" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000776025" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000776026" "00001847" "50" "5177" "0" "5177" "0" "c.5177C>A" "r.(?)" "p.(Thr1726Asn)" "36"
"0000776027" "00001847" "90" "6386" "2" "6386" "2" "c.6386+2C>G" "r.(?)" "p.(?)" "46i"
"0000776028" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000776029" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000776030" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000776031" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000776032" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000776033" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000776034" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000776035" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000776036" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000776037" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000776038" "00001847" "90" "3292" "0" "3292" "0" "c.3292C>T" "r.(?)" "p.(Arg1098Cys)" "22"
"0000776039" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000776040" "00001847" "50" "6148" "0" "6148" "0" "c.6148G>C" "r.=" "p.(Val2050Leu)" "45"
"0000776041" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000776042" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000776043" "00001847" "70" "5929" "0" "5929" "0" "c.5929G>A" "r.(?)" "p.(Gly1977Ser)" "43"
"0000776044" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000776045" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000776046" "00001847" "10" "6282" "7" "6282" "7" "c.6282+7G>A" "r.(?)" "p.(?)" "45i"
"0000776047" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000776048" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000776049" "00001847" "70" "4222" "0" "4222" "0" "c.4222T>C" "r.(?)" "p.(Trp1408Arg)" "28"
"0000776050" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000776051" "00001847" "70" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" "44"
"0000776052" "00001847" "90" "3292" "0" "3292" "0" "c.3292C>T" "r.(?)" "p.(Arg1098Cys)" "22"
"0000776053" "00001847" "70" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" "35"
"0000776054" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000776055" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000776056" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000776057" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000776058" "00001847" "70" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" "31"
"0000776059" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000776060" "00001847" "90" "6181" "0" "6184" "0" "c.6181_6184del" "r.(?)" "p.(Thr2061Serfs*53)" "45"
"0000776061" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000776062" "00001847" "90" "6445" "0" "6445" "0" "c.6445C>T" "r.(?)" "p.(Arg2149*)" "47"
"0000776063" "00001847" "90" "1819" "0" "1819" "0" "c.1819G>A" "r.(?)" "p.(Gly607Arg)" "13"
"0000776064" "00001847" "30" "6730" "-3" "6730" "-3" "c.6730-3T>C" "r.(?)" "p.(?)" "48i"
"0000776065" "00001847" "10" "6764" "0" "6764" "0" "c.6764G>T" "r.(?)" "p.(Ser2255Ile)" "49"
"0000776066" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000776067" "00001847" "30" "6730" "-3" "6730" "-3" "c.6730-3T>C" "r.(?)" "p.(?)" "48i"
"0000776068" "00001847" "10" "6764" "0" "6764" "0" "c.6764G>T" "r.(?)" "p.(Ser2255Ile)" "49"
"0000776069" "00001847" "50" "2813" "0" "2813" "0" "c.2813T>C" "r.(?)" "p.(Phe938Ser)" "19"
"0000776070" "00001847" "70" "5929" "0" "5929" "0" "c.5929G>A" "r.(?)" "p.(Gly1977Ser)" "43"
"0000776071" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000776072" "00001847" "70" "6250" "0" "6250" "0" "c.6250G>A" "r.(?)" "p.(Ala2084Thr)" "45"
"0000776073" "00001847" "90" "5196" "1" "5196" "1" "c.5196+1G>A" "r.spl" "p.?" "36i"
"0000776074" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000776075" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000776076" "00001847" "70" "5044" "0" "5058" "0" "c.5044_5058del" "r.(?)" "p.(Val1682_Val1686del)" "36"
"0000776077" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000776078" "00001847" "50" "5908" "0" "5908" "0" "c.5908C>T" "r.(?)" "p.(Leu1970Phe)" "43"
"0000776079" "00001847" "50" "4328" "0" "4328" "0" "c.4328G>A" "r.(?)" "p.(Arg1443His)" "29"
"0000776080" "00001847" "70" "5044" "0" "5058" "0" "c.5044_5058del" "r.(?)" "p.(Val1682_Val1686del)" "36"
"0000776081" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000776082" "00001847" "70" "6209" "0" "6209" "0" "c.6209C>G" "r.(?)" "p.(Thr2070Arg)" "45"
"0000776083" "00001847" "90" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071Cysfs*14)" "22"
"0000776084" "00001847" "10" "6529" "0" "6529" "0" "c.6529G>A" "r.(?)" "p.(Asp2177Asn)" "48"
"0000776085" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000776086" "00001847" "70" "4363" "0" "4363" "0" "c.4363T>C" "r.(?)" "p.(Cys1455Arg)" "30"
"0000776087" "00001847" "50" "5516" "0" "5516" "0" "c.5516T>C" "r.(?)" "p.(Phe1839Ser)" "39"
"0000776088" "00001847" "50" "6148" "0" "6148" "0" "c.6148G>C" "r.=" "p.(Val2050Leu)" "45"
"0000776089" "00001847" "70" "3364" "0" "3364" "0" "c.3364G>A" "r.(?)" "p.(Glu1122Lys)" "23"
"0000776090" "00001847" "90" "6088" "0" "6088" "0" "c.6088C>T" "r.(?)" "p.(Arg2030*)" "44"
"0000776091" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000776092" "00001847" "90" "6088" "0" "6088" "0" "c.6088C>T" "r.(?)" "p.(Arg2030*)" "44"
"0000776093" "00001847" "90" "5161" "0" "5162" "0" "c.5161_5162del" "r.(?)" "p.(Thr1721Hisfs*65)" "36"
"0000776094" "00001847" "70" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" "44"
"0000776095" "00001847" "70" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" "44"
"0000776096" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000776097" "00001847" "70" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" "35"
"0000776098" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000776099" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000776100" "00001847" "90" "6118" "0" "6118" "0" "c.6118C>T" "r.(?)" "p.(Arg2040*)" "44"
"0000776101" "00001847" "70" "4594" "0" "4594" "0" "c.4594G>A" "r.(?)" "p.(Asp1532Asn)" "31"
"0000776102" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000776103" "00001847" "70" "1531" "0" "1531" "0" "c.1531C>T" "r.(?)" "p.(Arg511Cys)" "11"
"0000776104" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000776105" "00001847" "70" "5216" "0" "5218" "0" "c.5216_5218dup" "r.(?)" "p.(Ala1739dup)" "37"
"0000776106" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000776107" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000776108" "00001847" "70" "4594" "0" "4594" "0" "c.4594G>A" "r.(?)" "p.(Asp1532Asn)" "31"
"0000776109" "00001847" "50" "5693" "0" "5693" "0" "c.5693G>A" "r.(?)" "p.(Arg1898His)" "40"
"0000776110" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000776111" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000776112" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000776113" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000776114" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000776115" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000776116" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000776117" "00001847" "90" "2564" "0" "2564" "0" "c.2564G>A" "r.(?)" "p.(Trp855*)" "16"
"0000776118" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000776119" "00001847" "90" "6817" "-2" "6817" "-2" "c.6817-2A>C" "r.spl" "p.?" "49i"
"0000776120" "00001847" "70" "2522" "0" "2522" "0" "c.2522A>C" "r.(?)" "p.(Gln841Pro)" "16"
"0000776121" "00001847" "90" "6286" "0" "6286" "0" "c.6286G>A" "r.(?)" "p.(Glu2096Lys)" "46"
"0000776122" "00001847" "50" "3758" "0" "3758" "0" "c.3758C>T" "r.(?)" "p.(Thr1253Met)" "25"
"0000776123" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000776124" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000776125" "00001847" "70" "6729" "5" "6729" "19" "c.6729+5_6729+19del" "r.6480_6729del" "p.(Phe2161Cysfs*3)" "48i"
"0000776126" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000776127" "00001847" "90" "1906" "0" "1906" "0" "c.1906C>T" "r.(?)" "p.(Gln636*)" "13"
"0000776128" "00001847" "50" "5578" "0" "5578" "0" "c.5578C>T" "r.(?)" "p.(Arg1860Trp)" "39"
"0000776129" "00001847" "70" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" "44"
"0000776130" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000776131" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000776132" "00001847" "90" "6088" "0" "6088" "0" "c.6088C>T" "r.(?)" "p.(Arg2030*)" "44"
"0000776133" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000776134" "00001847" "90" "6817" "-2" "6817" "-2" "c.6817-2A>C" "r.spl" "p.?" "49i"
"0000776135" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000776136" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000776137" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000776138" "00001847" "70" "4253" "43" "4253" "43" "c.4253+43G>A" "r.[=,4129_4253del]" "p.[=,Ile1377Hisfs*3]" "28i"
"0000776139" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000776140" "00001847" "70" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" "31"
"0000776141" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000776142" "00001847" "50" "5177" "0" "5177" "0" "c.5177C>A" "r.(?)" "p.(Thr1726Asn)" "36"
"0000776143" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000776144" "00001847" "70" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.[=,5196_5197ins5196+1140_5196+1212]" "p.[=,Met1733Glufs*78]" "36i"
"0000776145" "00001847" "70" "6729" "5" "6729" "19" "c.6729+5_6729+19del" "r.6480_6729del" "p.(Phe2161Cysfs*3)" "48i"
"0000776146" "00001847" "50" "768" "353" "768" "353" "c.768+353T>C" "r.spl?" "p.(?)" "6i"
"0000776147" "00001847" "70" "1757" "0" "1757" "0" "c.1757A>G" "r.(?)" "p.(Asp586Gly)" "12"
"0000776148" "00001847" "50" "4667" "45" "4667" "45" "c.4667+45T>C" "r.(?)" "p.(?)" "32i"
"0000776149" "00001847" "70" "6209" "0" "6209" "0" "c.6209C>G" "r.(?)" "p.(Thr2070Arg)" "45"
"0000776150" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000776151" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000776152" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000776153" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000776154" "00001847" "50" "4685" "0" "4685" "0" "c.4685T>C" "r.(?)" "p.(Ile1562Thr)" "33"
"0000776155" "00001847" "70" "4793" "0" "4793" "0" "c.4793C>A" "r.(?)" "p.(Ala1598Asp)" "34"
"0000776156" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000776157" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000776158" "00001847" "70" "3329" "0" "3329" "0" "c.3329G>T" "r.(?)" "p.(Gly1110Val)" "23"
"0000776159" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000776160" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000776161" "00001847" "90" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071Cysfs*14)" "22"
"0000776162" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000776163" "00001847" "50" "5908" "0" "5908" "0" "c.5908C>T" "r.(?)" "p.(Leu1970Phe)" "43"
"0000776164" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000776165" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000776166" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000776167" "00001847" "70" "5936" "0" "5936" "0" "c.5936C>T" "r.(?)" "p.(Thr1979Ile)" "43"
"0000776168" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000776169" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000776170" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000776171" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000776172" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000776173" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000776174" "00001847" "90" "4653" "0" "4653" "0" "c.4653G>A" "r.(?)" "p.(Trp1551*)" "32"
"0000776175" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000776176" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000776177" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000776178" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000776179" "00001847" "70" "5936" "0" "5936" "0" "c.5936C>T" "r.(?)" "p.(Thr1979Ile)" "43"
"0000776180" "00001847" "90" "5312" "1" "5312" "1" "c.5312+1G>A" "r.spl" "p.?" "37i"
"0000776181" "00001847" "70" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" "44"
"0000776182" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000776183" "00001847" "50" "4739" "0" "4739" "0" "c.4739T>C" "r.(?)" "p.(Leu1580Ser)" "33"
"0000776184" "00001847" "90" "5520" "0" "5520" "0" "c.5520C>A" "r.(?)" "p.(Cys1840*)" "39"
"0000776185" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000776186" "00001847" "70" "5584" "6" "5584" "6" "c.5584+6T>C" "r.[5461_5714del,5461_5584del,5585_5714]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13,Glu1863Leufs*33]" "39i"
"0000776187" "00001847" "70" "52" "0" "52" "0" "c.52C>T" "r.(?)" "p.(Arg18Trp)" "1"
"0000776188" "00001847" "50" "4254" "-41" "4254" "-41" "c.4254-41C>T" "r.(?)" "p.(?)" "28i"
"0000776189" "00001847" "90" "6005" "1" "6005" "1" "c.6005+1G>T" "r.spl" "p.?" "43i"
"0000776190" "00001847" "50" "6721" "0" "6721" "0" "c.6721C>G" "r.(?)" "p.(Leu2241Val)" "48"
"0000776191" "00001847" "70" "6229" "0" "6229" "0" "c.6229C>T" "r.(?)" "p.(Arg2077Trp)" "45"
"0000776192" "00001847" "90" "4254" "-1" "4254" "-1" "c.4254-1G>C" "r.spl" "p.?" "28i"
"0000776193" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000776194" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000776195" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000776196" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000776197" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000776198" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000776199" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000776200" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000776201" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000776202" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000776203" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000776204" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000776205" "00001847" "90" "5715" "-1" "5715" "-1" "c.5715-1G>T" "r.(?)" "p.(?)" "40i"
"0000776206" "00001847" "70" "4253" "43" "4253" "43" "c.4253+43G>A" "r.[=,4129_4253del]" "p.[=,Ile1377Hisfs*3]" "28i"
"0000776207" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000776208" "00001847" "70" "4253" "43" "4253" "43" "c.4253+43G>A" "r.[=,4129_4253del]" "p.[=,Ile1377Hisfs*3]" "28i"
"0000776209" "00001847" "70" "5777" "0" "5777" "0" "c.5777A>C" "r.(?)" "p.(Gln1926Pro)" "41"
"0000776210" "00001847" "50" "4328" "0" "4328" "0" "c.4328G>A" "r.(?)" "p.(Arg1443His)" "29"
"0000776211" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000776212" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000776213" "00001847" "50" "656" "0" "656" "0" "c.656G>C" "r.(?)" "p.(Arg219Thr)" "6"
"0000776214" "00001847" "70" "3482" "0" "3482" "0" "c.3482G>A" "r.(?)" "p.(Arg1161His)" "23"
"0000776215" "00001847" "70" "4253" "43" "4253" "43" "c.4253+43G>A" "r.[=,4129_4253del]" "p.[=,Ile1377Hisfs*3]" "28i"
"0000776216" "00001847" "90" "760" "0" "768" "25" "c.760_768+25del" "r.(?)" "p.(Phe254_Val256del,?)" "6"
"0000776217" "00001847" "70" "3305" "0" "3305" "0" "c.3305A>T" "r.(?)" "p.(Asp1102Val)" "22"
"0000776218" "00001847" "70" "6647" "0" "6647" "0" "c.6647C>T" "r.(?)" "p.(Ala2216Val)" "48"
"0000776219" "00001847" "90" "3007" "0" "3007" "0" "c.3007dup" "r.(?)" "p.(Gln1003Profs*20)" "20"
"0000776220" "00001847" "70" "1822" "0" "1822" "0" "c.1822T>A" "r.(?)" "p.(Phe608Ile)" "13"
"0000776221" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000776222" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000776223" "00001847" "90" "1086" "0" "1086" "0" "c.1086T>A" "r.(?)" "p.(Tyr362*)" "8"
"0000776224" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000776225" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000776226" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000776227" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000776228" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000776229" "00001847" "50" "5114" "0" "5114" "0" "c.5114G>A" "r.(?)" "p.(Arg1705Gln)" "36"
"0000776230" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000776231" "00001847" "90" "3051" "-1" "3051" "-1" "c.3051-1G>A" "r.spl" "p.?" "20i"
"0000776232" "00001847" "90" "5018" "2" "5018" "2" "c.5018+2T>C" "r.spl" "p.?" "35i"
"0000776233" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000776234" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000776235" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000776236" "00001847" "70" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" "44"
"0000776237" "00001847" "70" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" "31"
"0000776238" "00001847" "70" "4457" "0" "4457" "0" "c.4457C>T" "r.(?)" "p.(Pro1486Leu)" "30"
"0000776239" "00001847" "70" "5819" "0" "5819" "0" "c.5819T>C" "r.(?)" "p.(Leu1940Pro)" "41"
"0000776240" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000776241" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000776242" "00001847" "70" "5773" "0" "5773" "0" "c.5773A>G" "r.(?)" "p.(Arg1925Gly)" "41"
"0000776243" "00001847" "50" "4506" "0" "4506" "0" "c.4506C>T" "r.(?)" "p.(=)" "30"
"0000776244" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000776245" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000776246" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000776247" "00001847" "90" "6181" "0" "6184" "0" "c.6181_6184del" "r.(?)" "p.(Thr2061Serfs*53)" "45"
"0000776248" "00001847" "70" "5084" "0" "5084" "0" "c.5084C>A" "r.(?)" "p.(Ala1695Asp)" "36"
"0000776249" "00001847" "10" "6764" "0" "6764" "0" "c.6764G>T" "r.(?)" "p.(Ser2255Ile)" "49"
"0000776250" "00001847" "70" "4504" "0" "4504" "0" "c.4504T>G" "r.(?)" "p.(Cys1502Gly)" "30"
"0000776251" "00001847" "70" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" "35"
"0000776252" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000776253" "00001847" "90" "1937" "1" "1937" "1" "c.1937+1G>A" "r.spl" "p.?" "13i"
"0000776254" "00001847" "10" "3602" "0" "3602" "0" "c.3602T>G" "r.(?)" "p.(Leu1201Arg)" "24"
"0000776255" "00001847" "70" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" "31"
"0000776256" "00001847" "70" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.[=,5196_5197ins5196+1140_5196+1212]" "p.[=,Met1733Glufs*78]" "36i"
"0000776257" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000776258" "00001847" "70" "2300" "0" "2300" "0" "c.2300T>A" "r.(?)" "p.(Val767Asp)" "15"
"0000776259" "00001847" "70" "1919" "0" "1919" "0" "c.1919C>T" "r.(?)" "p.(Pro640Leu)" "13"
"0000776260" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000776261" "00001847" "70" "6221" "0" "6221" "0" "c.6221G>T" "r.(?)" "p.(Gly2074Val)" "45"
"0000776262" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000776263" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000776264" "00001847" "50" "5077" "0" "5077" "0" "c.5077G>A" "r.(?)" "p.(Val1693Ile)" "36"
"0000776265" "00001847" "90" "6386" "2" "6386" "2" "c.6386+2C>G" "r.(?)" "p.(?)" "46i"
"0000776266" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.[(768g>u;768_769ins768+1_768+35)]" "p.(Leu257Valfs*17)" "6"
"0000776267" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000776268" "00001847" "90" "6088" "0" "6088" "0" "c.6088C>T" "r.(?)" "p.(Arg2030*)" "44"
"0000776269" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000776270" "00001847" "70" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" "31"
"0000776271" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000776272" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000776273" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000776274" "00001847" "70" "3385" "0" "3385" "0" "c.3385C>T" "r.(?)" "p.(Arg1129Cys)" "23"
"0000776275" "00001847" "70" "4516" "0" "4516" "0" "c.4516G>A" "r.(?)" "p.(Ala1506Thr)" "30"
"0000776276" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000776277" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000776278" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000776279" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000776280" "00001847" "50" "5395" "0" "5395" "0" "c.5395A>G" "r.(?)" "p.(Asn1799Asp)" "38"
"0000776281" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000776282" "00001847" "70" "4222" "0" "4222" "0" "c.4222T>C" "r.(?)" "p.(Trp1408Arg)" "28"
"0000776283" "00001847" "70" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" "35"
"0000776284" "00001847" "70" "4463" "0" "4463" "0" "c.4463G>A" "r.(?)" "p.(Cys1488Tyr)" "30"
"0000776285" "00001847" "50" "6148" "0" "6148" "0" "c.6148G>C" "r.=" "p.(Val2050Leu)" "45"
"0000776286" "00001847" "90" "3259" "0" "3259" "0" "c.3259G>A" "r.(?)" "p.(Glu1087Lys)" "22"
"0000776287" "00001847" "90" "5172" "0" "5172" "0" "c.5172G>A" "r.(?)" "p.(Trp1724*)" "36"
"0000776288" "00001847" "70" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" "35"
"0000776289" "00001847" "50" "2690" "0" "2690" "0" "c.2690C>T" "r.(?)" "p.(Thr897Ile)" "18"
"0000776290" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000776291" "00001847" "70" "5318" "0" "5318" "0" "c.5318C>T" "r.(?)" "p.(Ala1773Val)" "38"
"0000776292" "00001847" "50" "4506" "0" "4506" "0" "c.4506C>T" "r.(?)" "p.(=)" "30"
"0000776293" "00001847" "70" "4709" "0" "4709" "0" "c.4709C>T" "r.(?)" "p.(Pro1570Leu)" "33"
"0000776294" "00001847" "50" "160" "5" "160" "5" "c.160+5G>A" "r.(?)" "p.(?)" "2i"
"0000776295" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000776296" "00001847" "90" "3259" "0" "3259" "0" "c.3259G>A" "r.(?)" "p.(Glu1087Lys)" "22"
"0000776297" "00001847" "70" "6383" "0" "6383" "0" "c.6383A>G" "r.(?)" "p.(His2128Arg)" "46"
"0000776298" "00001847" "90" "834" "0" "834" "0" "c.834del" "r.(?)" "p.(Asp279Ilefs*21)" "7"
"0000776299" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000776300" "00001847" "70" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" "35"
"0000776301" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000776302" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000776303" "00001847" "70" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" "44"
"0000776304" "00001847" "70" "3041" "0" "3041" "0" "c.3041T>G" "r.(?)" "p.(Leu1014Arg)" "20"
"0000776305" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000776306" "00001847" "90" "6386" "2" "6386" "2" "c.6386+2C>G" "r.(?)" "p.(?)" "46i"
"0000776307" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000776308" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000776309" "00001847" "70" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" "44"
"0000776310" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000776311" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000776312" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000776313" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000776314" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000776315" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000776316" "00001847" "70" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" "31"
"0000776317" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000776318" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000776319" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000776320" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000776321" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000776322" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000776323" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000776324" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000776325" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000776326" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000776327" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000776328" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000776329" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000776330" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000776331" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000776332" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000776333" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000776334" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000776335" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000776336" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000776337" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000776338" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000776339" "00001847" "50" "1933" "0" "1933" "0" "c.1933G>A" "r.(?)" "p.(Asp645Asn)" "13"
"0000776340" "00001847" "70" "3106" "0" "3106" "0" "c.3106G>A" "r.(?)" "p.(Glu1036Lys)" "21"
"0000776341" "00001847" "70" "4972" "0" "4972" "0" "c.4972A>C" "r.(?)" "p.(Ser1658Arg)" "35"
"0000776342" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000776343" "00001847" "70" "5929" "0" "5929" "0" "c.5929G>A" "r.(?)" "p.(Gly1977Ser)" "43"
"0000776344" "00001847" "70" "5656" "0" "5656" "0" "c.5656G>A" "r.(?)" "p.(Gly1886Arg)" "40"
"0000776345" "00001847" "90" "6146" "0" "6146" "0" "c.6146del" "r.(?)" "p.(Lys2049Argfs*12)" "44"
"0000776346" "00001847" "70" "1309" "0" "1309" "0" "c.1309C>A" "r.(?)" "p.(Gln437Lys)" "10"
"0000776347" "00001847" "50" "1699" "0" "1699" "0" "c.1699G>A" "r.(?)" "p.(Val567Met)" "12"
"0000776348" "00001847" "10" "6764" "0" "6764" "0" "c.6764G>T" "r.(?)" "p.(Ser2255Ile)" "49"
"0000776349" "00001847" "10" "635" "0" "635" "0" "c.635G>A" "r.(?)" "p.(Arg212His)" "6"
"0000776350" "00001847" "10" "1268" "0" "1268" "0" "c.1268A>G" "r.(?)" "p.(His423Arg)" "10"
"0000776351" "00001847" "50" "1294" "0" "1294" "0" "c.1294G>A" "r.(?)" "p.(Glu432Lys)" "10"
"0000776352" "00001847" "70" "4685" "0" "4685" "0" "c.4685T>C" "r.(?)" "p.(Ile1562Thr)" "33"
"0000776353" "00001847" "70" "3035" "0" "3037" "0" "c.3035_3037del" "r.(?)" "p.(Asn1012del)" "20"
"0000776354" "00001847" "50" "6389" "0" "6389" "0" "c.6389T>A" "r.(?)" "p.(Met2130Lys)" "47"
"0000776355" "00001847" "70" "3398" "0" "3398" "0" "c.3398T>C" "r.(?)" "p.(Ile1133Thr)" "23"
"0000776356" "00001847" "70" "5656" "0" "5656" "0" "c.5656G>A" "r.(?)" "p.(Gly1886Arg)" "40"
"0000776357" "00001847" "90" "6146" "0" "6146" "0" "c.6146del" "r.(?)" "p.(Lys2049Argfs*12)" "44"
"0000776358" "00001847" "70" "3547" "0" "3547" "0" "c.3547G>T" "r.(?)" "p.(Gly1183Cys)" "24"
"0000776359" "00001847" "50" "6289" "0" "6289" "0" "c.6289C>T" "r.(?)" "p.(Pro2097Ser)" "46"
"0000776360" "00001847" "70" "4748" "0" "4748" "0" "c.4748T>C" "r.(?)" "p.(Leu1583Pro)" "33"
"0000776361" "00001847" "90" "3470" "0" "3470" "0" "c.3470T>G" "r.(?)" "p.(Leu1157*)" "23"
"0000776362" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000776363" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000776364" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000776365" "00001847" "90" "6088" "0" "6088" "0" "c.6088C>T" "r.(?)" "p.(Arg2030*)" "44"
"0000776366" "00001847" "70" "1253" "0" "1253" "0" "c.1253T>C" "r.(?)" "p.(Phe418Ser)" "10"
"0000776367" "00001847" "70" "4539" "2001" "4539" "2001" "c.4539+2001G>A" "r.[=,4539_4540ins4539+1891_4540-2162]" "p.[=,Arg1514Leufs*36]" "30i"
"0000776368" "00001847" "70" "4594" "0" "4594" "0" "c.4594G>A" "r.(?)" "p.(Asp1532Asn)" "31"
"0000776369" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000776370" "00001847" "70" "4773" "3" "4773" "3" "c.4773+3A>G" "r.[4668_4773del,=]" "p.[Tyr1557Alafs*18,=]" "33i"
"0000776371" "00001847" "70" "4594" "0" "4594" "0" "c.4594G>A" "r.(?)" "p.(Asp1532Asn)" "31"
"0000776372" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000776373" "00001847" "50" "4539" "2028" "4539" "2028" "c.4539+2028C>T" "r.[=,4539_4540ins[4539+1891_4539+2027;u;4539+2029_4540-2162]]" "p.[=,Arg1514Leufs*36]" "30i"
"0000776374" "00001847" "90" "6148" "-698" "6670" "0" "c.6148-698_6670del" "r.(?)" "p.(?)" "44i"
"0000776375" "00001847" "50" "4539" "2028" "4539" "2028" "c.4539+2028C>T" "r.[=,4539_4540ins[4539+1891_4539+2027;u;4539+2029_4540-2162]]" "p.[=,Arg1514Leufs*36]" "30i"
"0000776376" "00001847" "90" "6148" "-698" "6670" "0" "c.6148-698_6670del" "r.(?)" "p.(?)" "44i"
"0000776377" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000776378" "00001847" "50" "4926" "0" "4926" "0" "c.4926C>G" "r.(?)" "p.(Ser1642Arg)" "35"
"0000776379" "00001847" "70" "5044" "0" "5058" "0" "c.5044_5058del" "r.(?)" "p.(Val1682_Val1686del)" "36"
"0000776380" "00001847" "50" "2819" "0" "2819" "0" "c.2819C>G" "r.(?)" "p.(Pro940Arg)" "19"
"0000776381" "00001847" "70" "3364" "0" "3364" "0" "c.3364G>A" "r.(?)" "p.(Glu1122Lys)" "23"
"0000776382" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000776383" "00001847" "90" "3292" "0" "3292" "0" "c.3292C>T" "r.(?)" "p.(Arg1098Cys)" "22"
"0000776384" "00001847" "70" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" "35"
"0000776385" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000776386" "00001847" "70" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" "35"
"0000776387" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000776388" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000776389" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000776390" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000776391" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000776392" "00001847" "90" "6005" "1" "6005" "1" "c.6005+1del" "r.spl" "p.?" "43i"
"0000776393" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000776394" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000776395" "00001847" "70" "5939" "0" "5939" "0" "c.5939C>T" "r.(?)" "p.(Thr1980Ile)" "43"
"0000776396" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000776397" "00001847" "90" "4537" "0" "4537" "0" "c.4537dup" "r.(?)" "p.(Gln1513Profs*42)" "30"
"0000776398" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000776399" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000776400" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000776401" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000776402" "00001847" "70" "5351" "0" "5351" "0" "c.5351T>C" "r.(?)" "p.(Leu1784Pro)" "38"
"0000776403" "00001847" "70" "5381" "0" "5381" "0" "c.5381C>A" "r.(?)" "p.(Ala1794Asp)" "38"
"0000776404" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000776405" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000776406" "00001847" "50" "4926" "0" "4926" "0" "c.4926C>G" "r.(?)" "p.(Ser1642Arg)" "35"
"0000776407" "00001847" "70" "5044" "0" "5058" "0" "c.5044_5058del" "r.(?)" "p.(Val1682_Val1686del)" "36"
"0000776408" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000776409" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000776410" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000776411" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000776412" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000776413" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000776414" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000776415" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000776416" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000776417" "00001847" "50" "6148" "0" "6148" "0" "c.6148G>C" "r.=" "p.(Val2050Leu)" "45"
"0000776418" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000776419" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000776420" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000776421" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000776422" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000776423" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000776424" "00001847" "50" "5642" "0" "5642" "0" "c.5642C>T" "r.(?)" "p.(Ala1881Val)" "40"
"0000776425" "00001847" "70" "872" "0" "872" "0" "c.872C>T" "r.(?)" "p.(Pro291Leu)" "8"
"0000776426" "00001847" "70" "1927" "0" "1927" "0" "c.1927G>A" "r.(?)" "p.(Val643Met)" "13"
"0000776427" "00001847" "10" "3602" "0" "3602" "0" "c.3602T>G" "r.(?)" "p.(Leu1201Arg)" "24"
"0000776428" "00001847" "70" "3323" "0" "3323" "0" "c.3323G>A" "r.(?)" "p.(Arg1108His)" "22"
"0000776429" "00001847" "10" "3602" "0" "3602" "0" "c.3602T>G" "r.(?)" "p.(Leu1201Arg)" "24"
"0000776430" "00001847" "70" "4700" "0" "4700" "0" "c.4700C>T" "r.(?)" "p.(Pro1567Leu)" "33"
"0000776431" "00001847" "10" "3899" "0" "3899" "0" "c.3899G>A" "r.(?)" "p.(Arg1300Gln)" "27"
"0000776432" "00001847" "10" "6529" "0" "6529" "0" "c.6529G>A" "r.(?)" "p.(Asp2177Asn)" "48"
"0000776433" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000776434" "00001847" "10" "3602" "0" "3602" "0" "c.3602T>G" "r.(?)" "p.(Leu1201Arg)" "24"
"0000776435" "00001847" "70" "5621" "0" "5621" "0" "c.5621T>C" "r.(?)" "p.(Leu1874Pro)" "40"
"0000776436" "00001847" "90" "6316" "0" "6316" "0" "c.6316C>T" "r.(?)" "p.(Arg2106Cys)" "46"
"0000776437" "00001847" "90" "3819" "0" "3819" "0" "c.3819dup" "r.(?)" "p.(Leu1274Serfs*8)" "26"
"0000776438" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000776439" "00001847" "70" "6454" "0" "6454" "0" "c.6454G>A" "r.(?)" "p.(Gly2152Ser)" "47"
"0000776440" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000776441" "00001847" "70" "194" "0" "194" "0" "c.194G>A" "r.(?)" "p.(Gly65Glu)" "3"
"0000776442" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000776443" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000776444" "00001847" "50" "6148" "0" "6148" "0" "c.6148G>C" "r.=" "p.(Val2050Leu)" "45"
"0000776445" "00001847" "70" "286" "0" "286" "0" "c.286A>G" "r.(?)" "p.(Asn96Asp)" "3"
"0000776446" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000776447" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000776448" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000776449" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000776450" "00001847" "50" "2023" "0" "2023" "0" "c.2023G>A" "r.(?)" "p.(Val675Ile)" "14"
"0000776451" "00001847" "50" "2023" "0" "2023" "0" "c.2023G>A" "r.(?)" "p.(Val675Ile)" "14"
"0000776452" "00001847" "90" "6394" "0" "6394" "0" "c.6394G>T" "r.(?)" "p.(Glu2132*)" "47"
"0000776453" "00001847" "90" "6816" "1" "6816" "1" "c.6816+1G>A" "r.spl" "p.?" "49i"
"0000776454" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000776455" "00001847" "90" "1819" "0" "1819" "0" "c.1819G>A" "r.(?)" "p.(Gly607Arg)" "13"
"0000776456" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000776457" "00001847" "90" "6445" "0" "6445" "0" "c.6445C>T" "r.(?)" "p.(Arg2149*)" "47"
"0000776458" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000776459" "00001847" "90" "6445" "0" "6445" "0" "c.6445C>T" "r.(?)" "p.(Arg2149*)" "47"
"0000776460" "00001847" "70" "288" "0" "288" "0" "c.288C>A" "r.(?)" "p.(Asn96Lys)" "3"
"0000776461" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000776462" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000776463" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000776464" "00001847" "90" "3056" "0" "3056" "0" "c.3056C>T" "r.(?)" "p.(Thr1019Met)" "21"
"0000776465" "00001847" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408*)" "9"
"0000776466" "00001847" "90" "5898" "2" "5898" "2" "c.5898+2T>C" "r.spl" "p.?" "42i"
"0000776467" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000776468" "00001847" "90" "6316" "0" "6316" "0" "c.6316C>T" "r.(?)" "p.(Arg2106Cys)" "46"
"0000776469" "00001847" "70" "3279" "0" "3279" "0" "c.3279C>A" "r.(?)" "p.(Asp1093Glu)" "22"
"0000776470" "00001847" "70" "872" "0" "872" "0" "c.872C>T" "r.(?)" "p.(Pro291Leu)" "8"
"0000776471" "00001847" "70" "1531" "0" "1531" "0" "c.1531C>T" "r.(?)" "p.(Arg511Cys)" "11"
"0000776472" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000776473" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000776474" "00001847" "90" "3292" "0" "3292" "0" "c.3292C>T" "r.(?)" "p.(Arg1098Cys)" "22"
"0000776475" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000776476" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000776477" "00001847" "90" "6005" "1" "6005" "1" "c.6005+1G>T" "r.spl" "p.?" "43i"
"0000776478" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000776479" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000776480" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000776481" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000776482" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000776483" "00001847" "90" "6088" "0" "6088" "0" "c.6088C>T" "r.(?)" "p.(Arg2030*)" "44"
"0000776484" "00001847" "50" "658" "0" "658" "0" "c.658C>T" "r.(?)" "p.(Arg220Cys)" "6"
"0000776485" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000776486" "00001847" "70" "5044" "0" "5058" "0" "c.5044_5058del" "r.(?)" "p.(Val1682_Val1686del)" "36"
"0000776487" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000776488" "00001847" "70" "5044" "0" "5058" "0" "c.5044_5058del" "r.(?)" "p.(Val1682_Val1686del)" "36"
"0000776489" "00001847" "90" "3056" "0" "3056" "0" "c.3056C>T" "r.(?)" "p.(Thr1019Met)" "21"
"0000776490" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000776491" "00001847" "70" "2743" "0" "2743" "0" "c.2743G>A" "r.spl?" "p.(Asp915Asn,?)" "18"
"0000776492" "00001847" "70" "5044" "0" "5058" "0" "c.5044_5058del" "r.(?)" "p.(Val1682_Val1686del)" "36"
"0000776493" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000776494" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000776495" "00001847" "90" "3329" "-2" "3329" "-2" "c.3329-2A>T" "r.spl" "p.?" "22i"
"0000776496" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000776497" "00001847" "90" "3329" "-2" "3329" "-2" "c.3329-2A>T" "r.spl" "p.?" "22i"
"0000776498" "00001847" "70" "5044" "0" "5058" "0" "c.5044_5058del" "r.(?)" "p.(Val1682_Val1686del)" "36"
"0000776499" "00001847" "70" "4340" "0" "4340" "0" "c.4340A>T" "r.(?)" "p.(Glu1447Val)" "29"
"0000776500" "00001847" "50" "4328" "0" "4328" "0" "c.4328G>A" "r.(?)" "p.(Arg1443His)" "29"
"0000776501" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000776502" "00001847" "50" "2690" "0" "2690" "0" "c.2690C>T" "r.(?)" "p.(Thr897Ile)" "18"
"0000776503" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000776504" "00001847" "70" "5044" "0" "5058" "0" "c.5044_5058del" "r.(?)" "p.(Val1682_Val1686del)" "36"
"0000776505" "00001847" "50" "2791" "0" "2791" "0" "c.2791G>A" "r.(?)" "p.(Val931Met)" "19"
"0000776506" "00001847" "50" "4328" "0" "4328" "0" "c.4328G>A" "r.(?)" "p.(Arg1443His)" "29"
"0000776507" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000776508" "00001847" "70" "5044" "0" "5058" "0" "c.5044_5058del" "r.(?)" "p.(Val1682_Val1686del)" "36"
"0000776509" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000776510" "00001847" "70" "6250" "0" "6250" "0" "c.6250G>C" "r.(?)" "p.(Ala2084Pro)" "45"
"0000776511" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000776512" "00001847" "90" "6316" "0" "6316" "0" "c.6316C>T" "r.(?)" "p.(Arg2106Cys)" "46"
"0000776513" "00001847" "90" "2345" "0" "2345" "0" "c.2345G>A" "r.(?)" "p.(Trp782*)" "15"
"0000776514" "00001847" "70" "5381" "0" "5381" "0" "c.5381C>A" "r.(?)" "p.(Ala1794Asp)" "38"
"0000776515" "00001847" "70" "5044" "0" "5058" "0" "c.5044_5058del" "r.(?)" "p.(Val1682_Val1686del)" "36"
"0000776516" "00001847" "70" "66" "0" "66" "0" "c.66G>T" "r.spl?" "p.(Lys22Asn,?)" "1"
"0000776517" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000776518" "00001847" "70" "5044" "0" "5058" "0" "c.5044_5058del" "r.(?)" "p.(Val1682_Val1686del)" "36"
"0000776519" "00001847" "70" "286" "0" "286" "0" "c.286A>G" "r.(?)" "p.(Asn96Asp)" "3"
"0000776520" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000776521" "00001847" "70" "1364" "0" "1364" "0" "c.1364T>A" "r.(?)" "p.(Leu455Gln)" "11"
"0000776522" "00001847" "90" "6316" "0" "6316" "0" "c.6316C>T" "r.(?)" "p.(Arg2106Cys)" "46"
"0000776523" "00001847" "90" "2345" "0" "2345" "0" "c.2345G>A" "r.(?)" "p.(Trp782*)" "15"
"0000776524" "00001847" "70" "5381" "0" "5381" "0" "c.5381C>A" "r.(?)" "p.(Ala1794Asp)" "38"
"0000776525" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000776526" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000776527" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000776528" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000776529" "00001847" "70" "5898" "0" "5898" "0" "c.5898G>A" "r.spl?" "p.(Glu1966=)" "42"
"0000776530" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000776531" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000776532" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000776533" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000776534" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000776535" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000776536" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000776537" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000776538" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000776539" "00001847" "90" "1957" "0" "1957" "0" "c.1957C>T" "r.(?)" "p.(Arg653Cys)" "14"
"0000776540" "00001847" "70" "6229" "0" "6229" "0" "c.6229C>G" "r.(?)" "p.(Arg2077Gly)" "45"
"0000776541" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000776542" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000776543" "00001847" "90" "3259" "0" "3259" "0" "c.3259G>A" "r.(?)" "p.(Glu1087Lys)" "22"
"0000776544" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000776545" "00001847" "70" "5923" "0" "5923" "0" "c.5923G>C" "r.(?)" "p.(Gly1975Arg)" "43"
"0000776546" "00001847" "90" "3261" "0" "3261" "0" "c.3261A>C" "r.(?)" "p.(Glu1087Asp)" "22"
"0000776547" "00001847" "90" "161" "-1" "161" "-1" "c.161-1G>A" "r.spl" "p.?" "2i"
"0000776548" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000776549" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000776550" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000776551" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000776552" "00001847" "90" "5196" "1" "5196" "1" "c.5196+1G>A" "r.spl" "p.?" "36i"
"0000776553" "00001847" "90" "5196" "1" "5196" "1" "c.5196+1G>A" "r.spl" "p.?" "36i"
"0000776554" "00001847" "90" "1906" "0" "1906" "0" "c.1906C>T" "r.(?)" "p.(Gln636*)" "13"
"0000776555" "00001847" "90" "6166" "0" "6166" "0" "c.6166A>T" "r.(?)" "p.(Lys2056*)" "45"
"0000776556" "00001847" "90" "1027" "0" "1028" "0" "c.1027_1028del" "r.(?)" "p.(Asn343*)" "8"
"0000776557" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000776558" "00001847" "90" "4234" "0" "4234" "0" "c.4234C>T" "r.(?)" "p.(Gln1412*)" "28"
"0000776559" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000776560" "00001847" "70" "6722" "0" "6722" "0" "c.6722T>C" "r.(?)" "p.(Leu2241Pro)" "48"
"0000776561" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000776562" "00001847" "70" "769" "-784" "769" "-784" "c.769-784C>T" "r.[=,768_769ins769-617_769-778]" "p.[=,Leu257Aspfs*3]" "6i"
"0000776563" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000776564" "00001847" "70" "859" "-506" "859" "-506" "c.859-506G>C" "r.[858_859ins859-503_859-447,=]" "p.[Phe287Thrfs*32,=]" "7i"
"0000776565" "00001847" "70" "769" "-784" "769" "-784" "c.769-784C>T" "r.[=,768_769ins769-617_769-778]" "p.[=,Leu257Aspfs*3]" "6i"
"0000776566" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000776567" "00001847" "70" "4253" "43" "4253" "43" "c.4253+43G>A" "r.[=,4129_4253del]" "p.[=,Ile1377Hisfs*3]" "28i"
"0000776568" "00001847" "50" "6006" "-609" "6006" "-609" "c.6006-609T>A" "r.=" "p.(=)" "43i"
"0000776569" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000776570" "00001847" "90" "4539" "1100" "4539" "1100" "c.4539+1100A>G" "r.[4539_4540ins4539+1033_4539+1100,4539_4540ins4539+989_4539+1100,=]" "p.[Arg1514Valfs*31,Arg1514Glyfs*3,=]" "30i"
"0000776571" "00001847" "70" "4253" "43" "4253" "43" "c.4253+43G>A" "r.[=,4129_4253del]" "p.[=,Ile1377Hisfs*3]" "28i"
"0000776572" "00001847" "50" "6006" "-609" "6006" "-609" "c.6006-609T>A" "r.=" "p.(=)" "43i"
"0000776573" "00001847" "70" "4253" "43" "4253" "43" "c.4253+43G>A" "r.[=,4129_4253del]" "p.[=,Ile1377Hisfs*3]" "28i"
"0000776574" "00001847" "50" "6006" "-609" "6006" "-609" "c.6006-609T>A" "r.=" "p.(=)" "43i"
"0000776575" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000776576" "00001847" "70" "4253" "43" "4253" "43" "c.4253+43G>A" "r.[=,4129_4253del]" "p.[=,Ile1377Hisfs*3]" "28i"
"0000776577" "00001847" "50" "6006" "-609" "6006" "-609" "c.6006-609T>A" "r.=" "p.(=)" "43i"
"0000776578" "00001847" "70" "769" "-784" "769" "-784" "c.769-784C>T" "r.[=,768_769ins769-617_769-778]" "p.[=,Leu257Aspfs*3]" "6i"
"0000776579" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000776580" "00001847" "70" "4253" "43" "4253" "43" "c.4253+43G>A" "r.[=,4129_4253del]" "p.[=,Ile1377Hisfs*3]" "28i"
"0000776581" "00001847" "50" "6006" "-609" "6006" "-609" "c.6006-609T>A" "r.=" "p.(=)" "43i"
"0000776582" "00001847" "70" "769" "-784" "769" "-784" "c.769-784C>T" "r.[=,768_769ins769-617_769-778]" "p.[=,Leu257Aspfs*3]" "6i"
"0000776583" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000776584" "00001847" "70" "769" "-784" "769" "-784" "c.769-784C>T" "r.[=,768_769ins769-617_769-778]" "p.[=,Leu257Aspfs*3]" "6i"
"0000776585" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000776586" "00001847" "70" "4253" "43" "4253" "43" "c.4253+43G>A" "r.[=,4129_4253del]" "p.[=,Ile1377Hisfs*3]" "28i"
"0000776587" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000776588" "00001847" "70" "4253" "43" "4253" "43" "c.4253+43G>A" "r.[=,4129_4253del]" "p.[=,Ile1377Hisfs*3]" "28i"
"0000776589" "00001847" "50" "6006" "-609" "6006" "-609" "c.6006-609T>A" "r.=" "p.(=)" "43i"
"0000776590" "00001847" "70" "859" "-506" "859" "-506" "c.859-506G>C" "r.[858_859ins859-503_859-447,=]" "p.[Phe287Thrfs*32,=]" "7i"
"0000776591" "00001847" "70" "859" "-506" "859" "-506" "c.859-506G>C" "r.[858_859ins859-503_859-447,=]" "p.[Phe287Thrfs*32,=]" "7i"
"0000776592" "00001847" "70" "769" "-784" "769" "-784" "c.769-784C>T" "r.[=,768_769ins769-617_769-778]" "p.[=,Leu257Aspfs*3]" "6i"
"0000776593" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000776594" "00001847" "70" "4253" "43" "4253" "43" "c.4253+43G>A" "r.[=,4129_4253del]" "p.[=,Ile1377Hisfs*3]" "28i"
"0000776595" "00001847" "50" "6006" "-609" "6006" "-609" "c.6006-609T>A" "r.=" "p.(=)" "43i"
"0000776596" "00001847" "70" "769" "-784" "769" "-784" "c.769-784C>T" "r.[=,768_769ins769-617_769-778]" "p.[=,Leu257Aspfs*3]" "6i"
"0000776597" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000776598" "00001847" "70" "1937" "435" "1937" "435" "c.1937+435C>G" "r.[=,1937_1938ins1937+396_1937+529]" "p.[=,Ser646Serfs*25]" "13i"
"0000776599" "00001847" "70" "1937" "435" "1937" "435" "c.1937+435C>G" "r.[=,1937_1938ins1937+396_1937+529]" "p.[=,Ser646Serfs*25]" "13i"
"0000776600" "00001847" "90" "4539" "1100" "4539" "1100" "c.4539+1100A>G" "r.[4539_4540ins4539+1033_4539+1100,4539_4540ins4539+989_4539+1100,=]" "p.[Arg1514Valfs*31,Arg1514Glyfs*3,=]" "30i"
"0000776601" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000776602" "00001847" "90" "4539" "1106" "4539" "1106" "c.4539+1106C>T" "r.[4539_4540ins4539+1033_4539+1100,4539_4540ins4539+989_4539+1100]" "p.[Arg1514Glyfs*3,Arg1514Valfs*31]" "30i"
"0000776603" "00001847" "70" "4253" "43" "4253" "43" "c.4253+43G>A" "r.[=,4129_4253del]" "p.[=,Ile1377Hisfs*3]" "28i"
"0000776604" "00001847" "50" "6006" "-609" "6006" "-609" "c.6006-609T>A" "r.=" "p.(=)" "43i"
"0000776605" "00001847" "90" "1239" "291" "1555" "-5574" "c.1239+291_1555-5574del" "r.(?)" "p.(?)" "9i"
"0000776606" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000776607" "00001847" "90" "" "0" "" "0" "c.5585-164_*400{0}" "r.(?)" "p.(?)" "39i"
"0000776608" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000776609" "00001847" "70" "4253" "43" "4253" "43" "c.4253+43G>A" "r.[=,4129_4253del]" "p.[=,Ile1377Hisfs*3]" "28i"
"0000776610" "00001847" "50" "6006" "-609" "6006" "-609" "c.6006-609T>A" "r.=" "p.(=)" "43i"
"0000776611" "00001847" "70" "4253" "43" "4253" "43" "c.4253+43G>A" "r.[=,4129_4253del]" "p.[=,Ile1377Hisfs*3]" "28i"
"0000776612" "00001847" "50" "6006" "-609" "6006" "-609" "c.6006-609T>A" "r.=" "p.(=)" "43i"
"0000776613" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000776614" "00001847" "70" "4253" "43" "4253" "43" "c.4253+43G>A" "r.[=,4129_4253del]" "p.[=,Ile1377Hisfs*3]" "28i"
"0000776615" "00001847" "50" "6006" "-609" "6006" "-609" "c.6006-609T>A" "r.=" "p.(=)" "43i"
"0000776616" "00001847" "70" "4253" "43" "4253" "43" "c.4253+43G>A" "r.[=,4129_4253del]" "p.[=,Ile1377Hisfs*3]" "28i"
"0000776617" "00001847" "50" "6006" "-609" "6006" "-609" "c.6006-609T>A" "r.=" "p.(=)" "43i"
"0000776618" "00001847" "70" "4253" "43" "4253" "43" "c.4253+43G>A" "r.[=,4129_4253del]" "p.[=,Ile1377Hisfs*3]" "28i"
"0000776619" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000776620" "00001847" "50" "6006" "-609" "6006" "-609" "c.6006-609T>A" "r.=" "p.(=)" "43i"
"0000776621" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000776622" "00001847" "70" "161" "-23" "161" "-23" "c.161-23T>G" "r.[=,161_302del]" "p.[=,Cys54Serfs*14]" "2i"
"0000776623" "00001847" "90" "2918" "775" "3328" "640" "c.2918+775_3328+640del" "r.(?)" "p.(?)" "19"
"0000776624" "00001847" "70" "3191" "-11" "3191" "-11" "c.3191-11T>A" "r.3190_3191ins3191-1_3191-9" "p.(Gly1064delinsValProProGly)" "21i"
"0000776625" "00001847" "70" "4253" "43" "4253" "43" "c.4253+43G>A" "r.[=,4129_4253del]" "p.[=,Ile1377Hisfs*3]" "28i"
"0000776626" "00001847" "70" "4253" "43" "4253" "43" "c.4253+43G>A" "r.[=,4129_4253del]" "p.[=,Ile1377Hisfs*3]" "28i"
"0000776627" "00001847" "70" "4253" "43" "4253" "43" "c.4253+43G>A" "r.[=,4129_4253del]" "p.[=,Ile1377Hisfs*3]" "28i"
"0000776628" "00001847" "90" "442" "799" "570" "541" "c.442+799_570+541del" "r.(?)" "p.(?)" "4i_5i"
"0000776629" "00001847" "90" "4539" "1106" "4539" "1106" "c.4539+1106C>T" "r.[4539_4540ins4539+1033_4539+1100,4539_4540ins4539+989_4539+1100]" "p.[Arg1514Glyfs*3,Arg1514Valfs*31]" "30i"
"0000776630" "00001847" "90" "4539" "1106" "4539" "1106" "c.4539+1106C>T" "r.[4539_4540ins4539+1033_4539+1100,4539_4540ins4539+989_4539+1100]" "p.[Arg1514Glyfs*3,Arg1514Valfs*31]" "30i"
"0000776631" "00001847" "70" "4539" "2001" "4539" "2001" "c.4539+2001G>A" "r.[=,4539_4540ins4539+1891_4540-2162]" "p.[=,Arg1514Leufs*36]" "30i"
"0000776632" "00001847" "70" "4539" "2001" "4539" "2001" "c.4539+2001G>A" "r.[=,4539_4540ins4539+1891_4540-2162]" "p.[=,Arg1514Leufs*36]" "30i"
"0000776633" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000776634" "00001847" "70" "4539" "2001" "4539" "2001" "c.4539+2001G>A" "r.[=,4539_4540ins4539+1891_4540-2162]" "p.[=,Arg1514Leufs*36]" "30i"
"0000776635" "00001847" "70" "4539" "2001" "4539" "2001" "c.4539+2001G>A" "r.[=,4539_4540ins4539+1891_4540-2162]" "p.[=,Arg1514Leufs*36]" "30i"
"0000776636" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000776637" "00001847" "70" "4539" "2001" "4539" "2001" "c.4539+2001G>A" "r.[=,4539_4540ins4539+1891_4540-2162]" "p.[=,Arg1514Leufs*36]" "30i"
"0000776638" "00001847" "90" "859" "-540" "859" "-540" "c.859-540C>G" "r.858_859ins859-545_859-685" "p.(Phe287Tyrfs*33)" "7i"
"0000776639" "00001847" "90" "4539" "2064" "4539" "2064" "c.4539+2064C>T" "r.[=,4539_4540ins4539+1891_4540-2162]" "p.[=,Arg1514Leufs*36]" "30i"
"0000776640" "00001847" "90" "4539" "2064" "4539" "2064" "c.4539+2064C>T" "r.[=,4539_4540ins4539+1891_4540-2162]" "p.[=,Arg1514Leufs*36]" "30i"
"0000776641" "00001847" "90" "5197" "-557" "5197" "-557" "c.5197-557G>T" "r.5196_5197ins5197-563_5197-750" "p.(Met1733*)" "36i"
"0000776642" "00001847" "70" "66" "520" "67" "-389" "c.66+520_67-389dup" "r.(?)" "p.(?)" "1i"
"0000776643" "00001847" "90" "67" "-975" "769" "-4582" "c.67-975_769-4582dup" "r.(?)" "p.(?)" "1i_6i"
"0000776644" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000776645" "00001847" "70" "769" "-784" "769" "-784" "c.769-784C>T" "r.[=,768_769ins769-617_769-778]" "p.[=,Leu257Aspfs*3]" "6i"
"0000776646" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000776647" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000776648" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000776649" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000776650" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000776651" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000776652" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000776653" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000776654" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000776655" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000776656" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000776657" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000776658" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000776659" "00001847" "50" "2919" "-383" "2919" "-383" "c.2919-383C>T" "r.(?)" "p.(?)" "19i"
"0000776660" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000776661" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000776662" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000776663" "00001847" "30" "3608" "-7" "3608" "-7" "c.3608-7G>A" "r.=" "p.(=)" "24i"
"0000776664" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000776665" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000776666" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000776667" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000776668" "00001847" "30" "3608" "-7" "3608" "-7" "c.3608-7G>A" "r.=" "p.(=)" "24i"
"0000776669" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000776670" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000776671" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000776672" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000776673" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000776674" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000776675" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000776676" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000776677" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000776678" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000776679" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000776680" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.[(768g>u;768_769ins768+1_768+35)]" "p.(Leu257Valfs*17)" "6"
"0000776681" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000776682" "00001847" "90" "4634" "1" "4634" "1" "c.4634+1del" "r.spl" "p.?" "31"
"0000776683" "00001847" "70" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" "44"
"0000776684" "00001847" "50" "2023" "0" "2023" "0" "c.2023G>A" "r.(?)" "p.(Val675Ile)" "14"
"0000776685" "00001847" "50" "6148" "0" "6148" "0" "c.6148G>C" "r.=" "p.(Val2050Leu)" "45"
"0000776686" "00001847" "90" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071Cysfs*14)" "22"
"0000776687" "00001847" "70" "5819" "0" "5819" "0" "c.5819T>C" "r.(?)" "p.(Leu1940Pro)" "41"
"0000776688" "00001847" "90" "6118" "0" "6118" "0" "c.6118C>T" "r.(?)" "p.(Arg2040*)" "44"
"0000776689" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000776690" "00001847" "70" "4919" "0" "4919" "0" "c.4919G>A" "r.(?)" "p.(Arg1640Gln)" "35"
"0000776691" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000776692" "00001847" "90" "913" "0" "913" "0" "c.913C>T" "r.(?)" "p.(Gln305*)" "8"
"0000776693" "00001847" "70" "4222" "0" "4222" "0" "c.4222T>C" "r.(?)" "p.(Trp1408Arg)" "28"
"0000776694" "00001847" "90" "247" "0" "250" "0" "c.247_250dup" "r.(?)" "p.(Ser84Thrfs*16)" "3"
"0000776695" "00001847" "90" "3259" "0" "3259" "0" "c.3259G>A" "r.(?)" "p.(Glu1087Lys)" "22"
"0000776696" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000776697" "00001847" "90" "1957" "0" "1957" "0" "c.1957C>T" "r.(?)" "p.(Arg653Cys)" "14"
"0000776698" "00001847" "70" "2300" "0" "2300" "0" "c.2300T>A" "r.(?)" "p.(Val767Asp)" "15"
"0000776699" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000776700" "00001847" "90" "3191" "-1" "3191" "-1" "c.3191-1G>T" "r.spl" "p.?" "21i"
"0000776701" "00001847" "70" "4363" "0" "4363" "0" "c.4363T>C" "r.(?)" "p.(Cys1455Arg)" "30"
"0000776702" "00001847" "90" "454" "0" "454" "0" "c.454C>T" "r.(?)" "p.(Arg152*)" "5"
"0000776703" "00001847" "70" "4793" "0" "4793" "0" "c.4793C>A" "r.(?)" "p.(Ala1598Asp)" "34"
"0000776704" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000776705" "00001847" "70" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" "35"
"0000776706" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000776707" "00001847" "70" "6449" "0" "6449" "0" "c.6449G>A" "r.(?)" "p.(Cys2150Tyr)" "47"
"0000776708" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000776709" "00001847" "90" "5018" "5" "5018" "5" "c.5018+5G>A" "r.4849_5018del" "p.(Val1617Alafs*113)" "35i"
"0000776710" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000776711" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000776712" "00001847" "70" "2385" "0" "2385" "0" "c.2385C>G" "r.(?)" "p.(Ser795Arg)" "16"
"0000776713" "00001847" "90" "454" "0" "454" "0" "c.454C>T" "r.(?)" "p.(Arg152*)" "5"
"0000776714" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000776715" "00001847" "90" "1906" "0" "1906" "0" "c.1906C>T" "r.(?)" "p.(Gln636*)" "13"
"0000776716" "00001847" "70" "4222" "0" "4222" "0" "c.4222T>C" "r.(?)" "p.(Trp1408Arg)" "28"
"0000776717" "00001847" "90" "247" "0" "250" "0" "c.247_250dup" "r.(?)" "p.(Ser84Thrfs*16)" "3"
"0000776718" "00001847" "50" "4326" "0" "4326" "0" "c.4326C>A" "r.(?)" "p.(Asn1442Lys)" "29"
"0000776719" "00001847" "90" "6118" "0" "6118" "0" "c.6118C>T" "r.(?)" "p.(Arg2040*)" "44"
"0000776720" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000776721" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000776722" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000776723" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000776724" "00001847" "70" "3364" "0" "3364" "0" "c.3364G>A" "r.(?)" "p.(Glu1122Lys)" "23"
"0000776725" "00001847" "90" "4773" "1" "4773" "1" "c.4773+1G>T" "r.spl" "p.?" "33i"
"0000776726" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000776727" "00001847" "70" "5318" "0" "5318" "0" "c.5318C>A" "r.(?)" "p.(Ala1773Glu)" "38"
"0000776728" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000776729" "00001847" "90" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071Cysfs*14)" "22"
"0000776730" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000776731" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000776732" "00001847" "70" "286" "0" "286" "0" "c.286A>T" "r.(?)" "p.(Asn96Tyr)" "3"
"0000776733" "00001847" "70" "3364" "0" "3364" "0" "c.3364G>A" "r.(?)" "p.(Glu1122Lys)" "23"
"0000776734" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000776735" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000776736" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000776737" "00001847" "70" "3305" "0" "3305" "0" "c.3305A>T" "r.(?)" "p.(Asp1102Val)" "22"
"0000776738" "00001847" "90" "5762" "0" "5763" "0" "c.5762_5763dup" "r.(?)" "p.(Ala1922Trpfs*18)" "41"
"0000776739" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000776740" "00001847" "90" "4128" "1" "4128" "1" "c.4128+1G>A" "r.spl" "p.?" "27i"
"0000776741" "00001847" "90" "4128" "1" "4128" "1" "c.4128+1G>A" "r.spl" "p.?" "27i"
"0000776742" "00001847" "90" "2919" "-1" "3328" "1" "c.(2918+1_2919-1)_(3328+1_3329-1)del" "r.(?)" "p.(Ser974Glnfs*64)" "19i_22i"
"0000776743" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.[(768g>u;768_769ins768+1_768+35)]" "p.(Leu257Valfs*17)" "6"
"0000776744" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000776745" "00001847" "70" "286" "0" "286" "0" "c.286A>G" "r.(?)" "p.(Asn96Asp)" "3"
"0000776746" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000776747" "00001847" "70" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.[=,5196_5197ins5196+1140_5196+1212]" "p.[=,Met1733Glufs*78]" "36i"
"0000776748" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000776749" "00001847" "70" "5537" "0" "5537" "0" "c.5537T>C" "r.(?)" "p.(Ile1846Thr)" "39"
"0000776750" "00001847" "90" "2919" "-1" "3328" "1" "c.(2918+1_2919-1)_(3328+1_3329-1)del" "r.(?)" "p.(Ser974Glnfs*64)" "19i_22i"
"0000776751" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000776752" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000776753" "00001847" "90" "6316" "0" "6316" "0" "c.6316C>T" "r.(?)" "p.(Arg2106Cys)" "46"
"0000776754" "00001847" "90" "2919" "-1" "3328" "1" "c.(2918+1_2919-1)_(3328+1_3329-1)del" "r.(?)" "p.(Ser974Glnfs*64)" "19i_22i"
"0000776755" "00001847" "90" "2919" "-1" "3328" "1" "c.(2918+1_2919-1)_(3328+1_3329-1)del" "r.(?)" "p.(Ser974Glnfs*64)" "19i_22i"
"0000776756" "00001847" "70" "4224" "0" "4224" "0" "c.4224G>T" "r.(?)" "p.(Trp1408Cys)" "28"
"0000776757" "00001847" "70" "2947" "0" "2947" "0" "c.2947A>G" "r.(?)" "p.(Thr983Ala)" "20"
"0000776758" "00001847" "70" "5113" "0" "5113" "0" "c.5113C>T" "r.(?)" "p.(Arg1705Trp)" "36"
"0000776759" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000776760" "00001847" "70" "872" "0" "872" "0" "c.872C>T" "r.(?)" "p.(Pro291Leu)" "8"
"0000776761" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000776762" "00001847" "90" "4352" "1" "4352" "1" "c.4352+1G>A" "r.spl" "p.?" "29i"
"0000776763" "00001847" "90" "880" "0" "880" "0" "c.880C>T" "r.(?)" "p.(Gln294*)" "8"
"0000776764" "00001847" "70" "1906" "0" "1906" "0" "c.1906C>A" "r.(?)" "p.(Gln636Lys)" "13"
"0000776765" "00001847" "50" "1933" "0" "1933" "0" "c.1933G>A" "r.(?)" "p.(Asp645Asn)" "13"
"0000776766" "00001847" "70" "3349" "0" "3349" "0" "c.3349A>G" "r.(?)" "p.(Thr1117Ala)" "23"
"0000776767" "00001847" "70" "3342" "0" "3344" "0" "c.3342_3344del" "r.(?)" "p.(Ile1114del)" "23"
"0000776768" "00001847" "70" "3342" "0" "3344" "0" "c.3342_3344del" "r.(?)" "p.(Ile1114del)" "23"
"0000776769" "00001847" "50" "869" "0" "869" "0" "c.869G>A" "r.(?)" "p.(Arg290Gln)" "8"
"0000776770" "00001847" "90" "3470" "0" "3470" "0" "c.3470T>G" "r.(?)" "p.(Leu1157*)" "23"
"0000776771" "00001847" "70" "4539" "2028" "4539" "2028" "c.4539+2028C>T" "r.[=,4539_4540ins[4539+1891_4539+2027;u;4539+2029_4540-2162]]" "p.[=,Arg1514Leufs*36]" "30i"
"0000776772" "00001847" "90" "6148" "-698" "6670" "0" "c.6148-698_6670delinsTGTGCACCTCCCTAG" "r.(?)" "p.(?)" "44i _ 48i"
"0000776773" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000776774" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000776775" "00001847" "50" "4539" "859" "4539" "859" "c.4539+859C>T" "r.=" "p.(=)" "30i"
"0000776776" "00001847" "70" "4253" "43" "4253" "43" "c.4253+43G>A" "r.[=,4129_4253del]" "p.[=,Ile1377Hisfs*3]" "28i"
"0000776777" "00001847" "90" "5704" "0" "5704" "0" "c.5704dup" "r.(?)" "p.(Leu1902Profs*10)" "40"
"0000776778" "00001847" "70" "4253" "43" "4253" "43" "c.4253+43G>A" "r.[=,4129_4253del]" "p.[=,Ile1377Hisfs*3]" "28i"
"0000776779" "00001847" "70" "1009" "0" "1009" "0" "c.1009T>C" "r.(?)" "p.(Phe337Leu)" "8"
"0000776780" "00001847" "90" "2005" "0" "2006" "0" "c.2005_2006del" "r.(?)" "p.(Met669Aspfs*96)" "14"
"0000776781" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000776782" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000776783" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000776784" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000776785" "00001847" "50" "5693" "0" "5693" "0" "c.5693G>A" "r.(?)" "p.(Arg1898His)" "40"
"0000776786" "00001847" "90" "885" "0" "885" "0" "c.885del" "r.(?)" "p.(Leu296Cysfs*4)" "8"
"0000776787" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000776788" "00001847" "70" "1523" "0" "1523" "0" "c.1523G>C" "r.(?)" "p.(Arg508Pro)" "11"
"0000776789" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000776790" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000776791" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000776792" "00001847" "90" "6100" "0" "6100" "0" "c.6100del" "r.(?)" "p.(Tyr2034Thrfs*27)" "44"
"0000776793" "00001847" "70" "5936" "0" "5936" "0" "c.5936C>T" "r.(?)" "p.(Thr1979Ile)" "43"
"0000776794" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000776795" "00001847" "70" "769" "-784" "769" "-784" "c.769-784C>T" "r.[=,768_769ins769-617_769-778]" "p.[=,Leu257Aspfs*3]" "6i"
"0000776796" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000776797" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000776798" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000776799" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000776800" "00001847" "90" "5453" "0" "5453" "0" "c.5453del" "r.(?)" "p.(Asn1818Ilefs*12)" "38"
"0000776801" "00001847" "50" "5693" "0" "5693" "0" "c.5693G>A" "r.(?)" "p.(Arg1898His)" "40"
"0000776802" "00001847" "70" "4253" "43" "4253" "43" "c.4253+43G>A" "r.[=,4129_4253del]" "p.[=,Ile1377Hisfs*3]" "28i"
"0000776803" "00001847" "70" "5329" "0" "5329" "0" "c.5329A>T" "r.(?)" "p.(Met1777Leu)" "38"
"0000776804" "00001847" "70" "769" "-784" "769" "-784" "c.769-784C>T" "r.[=,768_769ins769-617_769-778]" "p.[=,Leu257Aspfs*3]" "6i"
"0000776805" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000776806" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000776807" "00001847" "90" "5196" "1056" "5196" "1056" "c.5196+1056A>G" "r.5196_5197ins5196+880_5196+1056" "p.(Met1733Valfs*2)" "36i"
"0000776808" "00001847" "70" "769" "-784" "769" "-784" "c.769-784C>T" "r.[=,768_769ins769-617_769-778]" "p.[=,Leu257Aspfs*3]" "6i"
"0000776809" "00001847" "50" "3377" "0" "3377" "0" "c.3377T>C" "r.(?)" "p.(Leu1126Pro)" "23"
"0000776810" "00001847" "70" "4253" "43" "4253" "43" "c.4253+43G>A" "r.[=,4129_4253del]" "p.[=,Ile1377Hisfs*3]" "28i"
"0000776811" "00001847" "70" "4253" "43" "4253" "43" "c.4253+43G>A" "r.[=,4129_4253del]" "p.[=,Ile1377Hisfs*3]" "28i"
"0000776812" "00001847" "70" "4253" "43" "4253" "43" "c.4253+43G>A" "r.[=,4129_4253del]" "p.[=,Ile1377Hisfs*3]" "28i"
"0000776813" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000776814" "00001847" "70" "4253" "43" "4253" "43" "c.4253+43G>A" "r.[=,4129_4253del]" "p.[=,Ile1377Hisfs*3]" "28i"
"0000776815" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000776816" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000776817" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000776818" "00001847" "70" "4253" "43" "4253" "43" "c.4253+43G>A" "r.[=,4129_4253del]" "p.[=,Ile1377Hisfs*3]" "28i"
"0000776819" "00001847" "90" "4539" "2064" "4539" "2064" "c.4539+2064C>T" "r.[=,4539_4540ins4539+1891_4540-2162]" "p.[=,Arg1514Leufs*36]" "30i"
"0000776820" "00001847" "70" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.[=,5196_5197ins5196+1140_5196+1212]" "p.[=,Met1733Glufs*78]" "36i"
"0000776821" "00001847" "70" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.[=,5196_5197ins5196+1140_5196+1212]" "p.[=,Met1733Glufs*78]" "36i"
"0000776822" "00001847" "90" "3085" "0" "3085" "0" "c.3085C>T" "r.(?)" "p.(Gln1029*)" "21"
"0000776823" "00001847" "70" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.[=,5196_5197ins5196+1140_5196+1212]" "p.[=,Met1733Glufs*78]" "36i"
"0000776824" "00001847" "90" "4539" "2064" "4539" "2064" "c.4539+2064C>T" "r.[=,4539_4540ins4539+1891_4540-2162]" "p.[=,Arg1514Leufs*36]" "30i"
"0000776825" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000776826" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000776827" "00001847" "70" "4253" "43" "4253" "43" "c.4253+43G>A" "r.[=,4129_4253del]" "p.[=,Ile1377Hisfs*3]" "28i"
"0000776828" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000776829" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000776830" "00001847" "70" "4253" "43" "4253" "43" "c.4253+43G>A" "r.[=,4129_4253del]" "p.[=,Ile1377Hisfs*3]" "28i"
"0000776831" "00001847" "90" "2785" "0" "2785" "0" "c.2785dup" "r.(?)" "p.(Val929Glyfs*11)" "19"
"0000776832" "00001847" "70" "4253" "43" "4253" "43" "c.4253+43G>A" "r.[=,4129_4253del]" "p.[=,Ile1377Hisfs*3]" "28i"
"0000776833" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000776834" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000776835" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000776836" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000776837" "00001847" "90" "4539" "2064" "4539" "2064" "c.4539+2064C>T" "r.[=,4539_4540ins4539+1891_4540-2162]" "p.[=,Arg1514Leufs*36]" "30i"
"0000776838" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000776839" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000776840" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000776841" "00001847" "70" "6107" "0" "6107" "0" "c.6107A>G" "r.(?)" "p.(Tyr2036Cys)" "44"
"0000776842" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000776843" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000776844" "00001847" "50" "2401" "0" "2401" "0" "c.2401G>A" "r.(?)" "p.(Ala801Thr)" "16"
"0000776845" "00001847" "70" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" "35"
"0000776846" "00001847" "70" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.[=,5196_5197ins5196+1140_5196+1212]" "p.[=,Met1733Glufs*78]" "36i"
"0000776847" "00001847" "90" "4539" "0" "4539" "0" "c.4539G>A" "r.[4467_4539del,=]" "p.[Cys1490Glufs*12,=]" "30"
"0000776848" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000776849" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000776850" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000776851" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000776852" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000776853" "00001847" "70" "4253" "43" "4253" "43" "c.4253+43G>A" "r.[=,4129_4253del]" "p.[=,Ile1377Hisfs*3]" "28i"
"0000776854" "00001847" "90" "4927" "0" "4927" "0" "c.4927del" "r.(?)" "p.(Leu1643Cysfs*19)" "35"
"0000776855" "00001847" "70" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.[=,5196_5197ins5196+1140_5196+1212]" "p.[=,Met1733Glufs*78]" "36i"
"0000776856" "00001847" "70" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.[=,5196_5197ins5196+1140_5196+1212]" "p.[=,Met1733Glufs*78]" "36i"
"0000776857" "00001847" "90" "6316" "0" "6316" "0" "c.6316C>T" "r.(?)" "p.(Arg2106Cys)" "46"
"0000776858" "00001847" "70" "4253" "43" "4253" "43" "c.4253+43G>A" "r.[=,4129_4253del]" "p.[=,Ile1377Hisfs*3]" "28i"
"0000776859" "00001847" "70" "4253" "43" "4253" "43" "c.4253+43G>A" "r.[=,4129_4253del]" "p.[=,Ile1377Hisfs*3]" "28i"
"0000776860" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000776861" "00001847" "70" "4539" "2001" "4539" "2001" "c.4539+2001G>A" "r.[=,4539_4540ins4539+1891_4540-2162]" "p.[=,Arg1514Leufs*36]" "30i"
"0000776862" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000776863" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000776864" "00001847" "70" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" "35"
"0000776865" "00001847" "50" "455" "0" "455" "0" "c.455G>A" "r.(?)" "p.(Arg152Gln)" "5"
"0000776866" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000776867" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000776868" "00001847" "70" "4253" "43" "4253" "43" "c.4253+43G>A" "r.[=,4129_4253del]" "p.[=,Ile1377Hisfs*3]" "28i"
"0000776869" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000776870" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000776871" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000776872" "00001847" "70" "1244" "0" "1244" "0" "c.1244A>G" "r.(?)" "p.(Asn415Ser)" "10"
"0000776873" "00001847" "70" "4253" "43" "4253" "43" "c.4253+43G>A" "r.[=,4129_4253del]" "p.[=,Ile1377Hisfs*3]" "28i"
"0000776874" "00001847" "70" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.[=,5196_5197ins5196+1140_5196+1212]" "p.[=,Met1733Glufs*78]" "36i"
"0000776875" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000776876" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000776877" "00001847" "70" "1783" "0" "1783" "0" "c.1783G>A" "r.(?)" "p.(Ala595Thr)" "13"
"0000776878" "00001847" "70" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.[=,5196_5197ins5196+1140_5196+1212]" "p.[=,Met1733Glufs*78]" "36i"
"0000776879" "00001847" "70" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.[=,5196_5197ins5196+1140_5196+1212]" "p.[=,Met1733Glufs*78]" "36i"
"0000776880" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000776881" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000776882" "00001847" "10" "6529" "0" "6529" "0" "c.6529G>A" "r.(?)" "p.(Asp2177Asn)" "48"
"0000776883" "00001847" "70" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.[=,5196_5197ins5196+1140_5196+1212]" "p.[=,Met1733Glufs*78]" "36i"
"0000776884" "00001847" "70" "4253" "43" "4253" "43" "c.4253+43G>A" "r.[=,4129_4253del]" "p.[=,Ile1377Hisfs*3]" "28i"
"0000776885" "00001847" "70" "4253" "43" "4253" "43" "c.4253+43G>A" "r.[=,4129_4253del]" "p.[=,Ile1377Hisfs*3]" "28i"
"0000776886" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000776887" "00001847" "70" "1609" "0" "1609" "0" "c.1609C>T" "r.(?)" "p.(Arg537Cys)" "12"
"0000776888" "00001847" "70" "4539" "2001" "4539" "2001" "c.4539+2001G>A" "r.[=,4539_4540ins4539+1891_4540-2162]" "p.[=,Arg1514Leufs*36]" "30i"
"0000776889" "00001847" "70" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.[=,5196_5197ins5196+1140_5196+1212]" "p.[=,Met1733Glufs*78]" "36i"
"0000776890" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000776891" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000776892" "00001847" "70" "4253" "43" "4253" "43" "c.4253+43G>A" "r.[=,4129_4253del]" "p.[=,Ile1377Hisfs*3]" "28i"
"0000776893" "00001847" "70" "4253" "43" "4253" "43" "c.4253+43G>A" "r.[=,4129_4253del]" "p.[=,Ile1377Hisfs*3]" "28i"
"0000776894" "00001847" "90" "4539" "2064" "4539" "2064" "c.4539+2064C>T" "r.[=,4539_4540ins4539+1891_4540-2162]" "p.[=,Arg1514Leufs*36]" "30i"
"0000776895" "00001847" "90" "3970" "0" "3970" "0" "c.3970del" "r.(?)" "p.(Ala1324Argfs*65)" "27"
"0000776896" "00001847" "70" "4253" "43" "4253" "43" "c.4253+43G>A" "r.[=,4129_4253del]" "p.[=,Ile1377Hisfs*3]" "28i"
"0000776897" "00001847" "50" "4297" "0" "4297" "0" "c.4297G>A" "r.(?)" "p.(Val1433Ile)" "29"
"0000776898" "00001847" "70" "4539" "2065" "4539" "2065" "c.4539+2065C>G" "r.[4539_4540ins4539+1891_4539+2060,=]" "p.[Arg1514Lysfs*35,=]" "30i"
"0000776899" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000776900" "00001847" "70" "4253" "43" "4253" "43" "c.4253+43G>A" "r.[=,4129_4253del]" "p.[=,Ile1377Hisfs*3]" "28i"
"0000776901" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000776902" "00001847" "90" "4539" "1106" "4539" "1106" "c.4539+1106C>T" "r.[4539_4540ins4539+1033_4539+1100,4539_4540ins4539+989_4539+1100]" "p.[Arg1514Glyfs*3,Arg1514Valfs*31]" "30i"
"0000776903" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000776904" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000776905" "00001847" "70" "4253" "43" "4253" "43" "c.4253+43G>A" "r.[=,4129_4253del]" "p.[=,Ile1377Hisfs*3]" "28i"
"0000776906" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000776907" "00001847" "50" "1928" "0" "1928" "0" "c.1928T>G" "r.(?)" "p.(Val643Gly)" "13"
"0000776908" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000776909" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000776910" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000776911" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000776912" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000776913" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000776914" "00001847" "90" "3938" "0" "3948" "0" "c.3938_3948delinsGGG" "r.(?)" "p.(Thr1313Argfs*106)" "27"
"0000776915" "00001847" "70" "4070" "0" "4070" "0" "c.4070C>T" "r.(?)" "p.(Ala1357Val)" "27"
"0000776916" "00001847" "70" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.[=,5196_5197ins5196+1140_5196+1212]" "p.[=,Met1733Glufs*78]" "36i"
"0000776917" "00001847" "70" "161" "-23" "161" "-23" "c.161-23T>A" "r.spl?" "p.(?)" "2i"
"0000776918" "00001847" "70" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.[=,5196_5197ins5196+1140_5196+1212]" "p.[=,Met1733Glufs*78]" "36i"
"0000776919" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000776920" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000776921" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000776922" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000776923" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000776924" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000776925" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000776926" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000776927" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000776928" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000776929" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000776930" "00001847" "70" "2570" "0" "2570" "0" "c.2570T>C" "r.(?)" "p.(Leu857Pro)" "16"
"0000776931" "00001847" "70" "2570" "0" "2570" "0" "c.2570T>C" "r.(?)" "p.(Leu857Pro)" "16"
"0000776932" "00001847" "70" "4793" "0" "4793" "0" "c.4793C>A" "r.(?)" "p.(Ala1598Asp)" "34"
"0000776933" "00001847" "90" "607" "0" "611" "0" "c.607_611del" "r.(?)" "p.(Ile203Leufs*75)" "6"
"0000776934" "00001847" "90" "3259" "0" "3259" "0" "c.3259G>A" "r.(?)" "p.(Glu1087Lys)" "22"
"0000776935" "00001847" "90" "3898" "0" "3898" "0" "c.3898C>T" "r.(?)" "p.(Arg1300*)" "27"
"0000776936" "00001847" "50" "4328" "0" "4328" "0" "c.4328G>A" "r.(?)" "p.(Arg1443His)" "29"
"0000776937" "00001847" "70" "2570" "0" "2570" "0" "c.2570T>C" "r.(?)" "p.(Leu857Pro)" "16"
"0000776938" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000776939" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000776940" "00001847" "50" "3758" "0" "3758" "0" "c.3758C>T" "r.(?)" "p.(Thr1253Met)" "25"
"0000776941" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000776942" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000776943" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000776944" "00001847" "70" "5087" "0" "5087" "0" "c.5087G>A" "r.(?)" "p.(Ser1696Asn)" "36"
"0000776945" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000776946" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000776947" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000776948" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000776949" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000776950" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000776951" "00001847" "50" "5693" "0" "5693" "0" "c.5693G>A" "r.(?)" "p.(Arg1898His)" "40"
"0000776952" "00001847" "70" "872" "0" "872" "0" "c.872C>T" "r.(?)" "p.(Pro291Leu)" "8"
"0000776953" "00001847" "70" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" "44"
"0000776954" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000776955" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000776956" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000776957" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000776958" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000776959" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000776960" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000776961" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000776962" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000776963" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000776964" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000776965" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000776966" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000776967" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000776968" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000776969" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000776970" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000776971" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000776972" "00001847" "90" "2919" "-1" "3328" "1" "c.(2918+1_2919-1)_(3328+1_3329-1)del" "r.(?)" "p.(Ser974Glnfs*64)" "19i_22i"
"0000776973" "00001847" "90" "2919" "-1" "3328" "1" "c.(2918+1_2919-1)_(3328+1_3329-1)del" "r.(?)" "p.(Ser974Glnfs*64)" "19i_22i"
"0000776974" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000776975" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000776976" "00001847" "90" "4128" "1" "4128" "1" "c.4128+1G>A" "r.spl" "p.?" "27i"
"0000776977" "00001847" "90" "4128" "1" "4128" "1" "c.4128+1G>A" "r.spl" "p.?" "27i"
"0000776978" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000776979" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000776980" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000776981" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000776982" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000776983" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000776984" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000776985" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000776986" "00001847" "70" "859" "-506" "859" "-506" "c.859-506G>C" "r.[858_859ins859-503_859-447,=]" "p.[Phe287Thrfs*32,=]" "7i"
"0000776987" "00001847" "70" "859" "-506" "859" "-506" "c.859-506G>C" "r.[858_859ins859-503_859-447,=]" "p.[Phe287Thrfs*32,=]" "7i"
"0000776988" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.[(768g>u;768_769ins768+1_768+35)]" "p.(Leu257Valfs*17)" "6"
"0000776989" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.[(768g>u;768_769ins768+1_768+35)]" "p.(Leu257Valfs*17)" "6"
"0000776990" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000776991" "00001847" "90" "4539" "1" "4539" "1" "c.4539+1G>T" "r.spl" "p.?" "30i"
"0000776992" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000776993" "00001847" "90" "4539" "1" "4539" "1" "c.4539+1G>T" "r.spl" "p.?" "30i"
"0000776994" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000776995" "00001847" "90" "4539" "1" "4539" "1" "c.4539+1G>T" "r.spl" "p.?" "30i"
"0000776996" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000776997" "00001847" "90" "4539" "1" "4539" "1" "c.4539+1G>T" "r.spl" "p.?" "30i"
"0000776998" "00001847" "90" "3212" "0" "3212" "0" "c.3212C>A" "r.(?)" "p.(Ser1071*)" "22"
"0000776999" "00001847" "90" "6445" "0" "6445" "0" "c.6445C>T" "r.(?)" "p.(Arg2149*)" "47"
"0000777000" "00001847" "90" "6282" "1" "6282" "1" "c.6282+1G>A" "r.spl" "p.?" "45i"
"0000777001" "00001847" "50" "101" "0" "106" "0" "c.101_106del" "r.(?)" "p.(Ser34_Leu35del)" "2"
"0000777002" "00001847" "90" "1819" "0" "1819" "0" "c.1819G>A" "r.(?)" "p.(Gly607Arg)" "13"
"0000777003" "00001847" "90" "2177" "0" "2177" "0" "c.2177del" "r.(?)" "p.(His726Leufs*61)" "15"
"0000777004" "00001847" "70" "1372" "0" "1372" "0" "c.1372C>T" "r.(?)" "p.(Pro458Ser)" "11"
"0000777005" "00001847" "70" "1906" "0" "1906" "0" "c.1906C>A" "r.(?)" "p.(Gln636Lys)" "13"
"0000777006" "00001847" "50" "1522" "0" "1522" "0" "c.1522C>T" "r.(?)" "p.(Arg508Cys)" "11"
"0000777007" "00001847" "50" "1522" "0" "1522" "0" "c.1522C>T" "r.(?)" "p.(Arg508Cys)" "11"
"0000777008" "00001847" "90" "1006" "0" "1006" "0" "c.1006del" "r.(?)" "p.(Ser336Profs*38)" "8"
"0000777009" "00001847" "90" "2774" "0" "2774" "0" "c.2774G>A" "r.(?)" "p.(Trp925*)" "19"
"0000777010" "00001847" "50" "101" "0" "106" "0" "c.101_106del" "r.(?)" "p.(Ser34_Leu35del)" "2"
"0000777011" "00001847" "70" "1648" "0" "1648" "0" "c.1648G>A" "r.(?)" "p.(Gly550Arg)" "12"
"0000777012" "00001847" "90" "858" "1" "858" "1" "c.858+1G>T" "r.spl" "p.?" "7i"
"0000777013" "00001847" "50" "101" "0" "106" "0" "c.101_106del" "r.(?)" "p.(Ser34_Leu35del)" "2"
"0000777014" "00001847" "50" "101" "0" "106" "0" "c.101_106del" "r.(?)" "p.(Ser34_Leu35del)" "2"
"0000777015" "00001847" "50" "101" "0" "106" "0" "c.101_106del" "r.(?)" "p.(Ser34_Leu35del)" "2"
"0000777016" "00001847" "90" "1760" "0" "1760" "0" "c.1760G>A" "r.(?)" "p.(Arg587Lys,?)" "12"
"0000777017" "00001847" "90" "1760" "0" "1760" "0" "c.1760G>A" "r.(?)" "p.(Arg587Lys,?)" "12"
"0000777018" "00001847" "50" "101" "0" "106" "0" "c.101_106del" "r.(?)" "p.(Ser34_Leu35del)" "2"
"0000777019" "00001847" "70" "4855" "0" "4855" "0" "c.4855T>C" "r.(?)" "p.(Phe1619Leu)" "35"
"0000777020" "00001847" "70" "94" "0" "94" "0" "c.94C>A" "r.(?)" "p.(Pro32Thr)" "2"
"0000777021" "00001847" "90" "1561" "0" "1561" "0" "c.1561del" "r.(?)" "p.(Val521Serfs*47)" "12"
"0000777022" "00001847" "90" "6118" "0" "6118" "0" "c.6118C>T" "r.(?)" "p.(Arg2040*)" "44"
"0000777023" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000777024" "00001847" "90" "2424" "0" "2424" "0" "c.2424C>G" "r.(?)" "p.(Tyr808*)" "16"
"0000777025" "00001847" "70" "6563" "0" "6563" "0" "c.6563T>C" "r.(?)" "p.(Phe2188Ser)" "48"
"0000777026" "00001847" "50" "1924" "0" "1924" "0" "c.1924T>A" "r.(?)" "p.(Phe642Ile)" "13"
"0000777027" "00001847" "70" "3420" "0" "3420" "0" "c.3420C>G" "r.(?)" "p.(Cys1140Trp)" "23"
"0000777028" "00001847" "70" "3262" "0" "3262" "0" "c.3262C>A" "r.(?)" "p.(Pro1088Thr)" "22"
"0000777029" "00001847" "50" "1933" "0" "1933" "0" "c.1933G>A" "r.(?)" "p.(Asp645Asn)" "13"
"0000777030" "00001847" "70" "95" "0" "95" "0" "c.95C>T" "r.(?)" "p.(Pro32Leu)" "2"
"0000777031" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000777032" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000777033" "00001847" "50" "2023" "0" "2023" "0" "c.2023G>A" "r.(?)" "p.(Val675Ile)" "14"
"0000777034" "00001847" "70" "6563" "0" "6563" "0" "c.6563T>C" "r.(?)" "p.(Phe2188Ser)" "48"
"0000777035" "00001847" "50" "6389" "0" "6389" "0" "c.6389T>A" "r.(?)" "p.(Met2130Lys)" "47"
"0000777036" "00001847" "90" "3862" "1" "3862" "1" "c.3862+1G>A" "r.spl" "p.?" "26i"
"0000777037" "00001847" "90" "1356" "4" "1356" "4" "c.1356+4A>G" "r.spl" "p.?" "10i"
"0000777038" "00001847" "70" "6563" "0" "6563" "0" "c.6563T>C" "r.(?)" "p.(Phe2188Ser)" "48"
"0000777039" "00001847" "50" "4283" "0" "4283" "0" "c.4283C>T" "r.(?)" "p.(Thr1428Met)" "29"
"0000777040" "00001847" "50" "101" "0" "106" "0" "c.101_106del" "r.(?)" "p.(Ser34_Leu35del)" "2"
"0000777041" "00001847" "50" "4283" "0" "4283" "0" "c.4283C>T" "r.(?)" "p.(Thr1428Met)" "29"
"0000777042" "00001847" "90" "5050" "0" "5050" "0" "c.5050del" "r.(?)" "p.(Ile1684Serfs*3)" "36"
"0000777043" "00001847" "90" "1006" "0" "1006" "0" "c.1006del" "r.(?)" "p.(Ser336Profs*38)" "8"
"0000777044" "00001847" "90" "1356" "4" "1356" "4" "c.1356+4A>G" "r.spl" "p.?" "10i"
"0000777045" "00001847" "70" "5584" "5" "5584" "5" "c.5584+5G>A" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "39i"
"0000777046" "00001847" "50" "5761" "0" "5761" "0" "c.5761G>A" "r.(?)" "p.(Val1921Met)" "41"
"0000777047" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000777048" "00001847" "90" "2996" "0" "2996" "0" "c.2996del" "r.(?)" "p.(Asp999Valfs*32)" "20"
"0000777049" "00001847" "70" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" "35"
"0000777050" "00001847" "70" "3055" "0" "3055" "0" "c.3055A>G" "r.(?)" "p.(Thr1019Ala)" "21"
"0000777051" "00001847" "70" "3089" "0" "3089" "0" "c.3089T>G" "r.(?)" "p.(Leu1030Arg)" "21"
"0000777052" "00001847" "70" "5460" "4" "5460" "4" "c.5460+4A>T" "r.(spl)" "p.?" "38i"
"0000777053" "00001847" "70" "5646" "0" "5646" "0" "c.5646G>A" "r.(?)" "p.(Met1882Ile)" "40"
"0000777054" "00001847" "50" "101" "0" "106" "0" "c.101_106del" "r.(?)" "p.(Ser34_Leu35del)" "2"
"0000777055" "00001847" "90" "1819" "0" "1819" "0" "c.1819G>A" "r.(?)" "p.(Gly607Arg)" "13"
"0000777056" "00001847" "50" "101" "0" "106" "0" "c.101_106del" "r.(?)" "p.(Ser34_Leu35del)" "2"
"0000777057" "00001847" "50" "6389" "0" "6389" "0" "c.6389T>A" "r.(?)" "p.(Met2130Lys)" "47"
"0000777058" "00001847" "50" "101" "0" "106" "0" "c.101_106del" "r.(?)" "p.(Ser34_Leu35del)" "2"
"0000777059" "00001847" "70" "2923" "0" "2924" "0" "c.2923_2924insAACACAGGTCCA" "r.(?)" "p.(Ser974_Ile975insLysHisArgSer)" "20"
"0000777060" "00001847" "90" "4066" "0" "4066" "0" "c.4066C>T" "r.(?)" "p.(Gln1356*)" "27"
"0000777061" "00001847" "90" "1382" "0" "1383" "0" "c.1382_1383del" "r.(?)" "p.(Lys461Argfs*5)" "11"
"0000777062" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000777063" "00001847" "90" "2063" "0" "2063" "0" "c.2063dup" "r.(?)" "p.(Asn688Lysfs*78)" "14"
"0000777064" "00001847" "50" "6190" "0" "6190" "0" "c.6190G>A" "r.(?)" "p.(Ala2064Thr)" "45"
"0000777065" "00001847" "70" "53" "0" "53" "0" "c.53G>C" "r.(?)" "p.(Arg18Pro)" "1"
"0000777066" "00001847" "90" "1561" "0" "1561" "0" "c.1561del" "r.(?)" "p.(Val521Serfs*47)" "12"
"0000777067" "00001847" "90" "1760" "0" "1760" "0" "c.1760G>A" "r.(?)" "p.(Arg587Lys,?)" "12"
"0000777068" "00001847" "90" "2063" "0" "2063" "0" "c.2063dup" "r.(?)" "p.(Asn688Lysfs*78)" "14"
"0000777069" "00001847" "70" "283" "0" "283" "0" "c.283T>C" "r.(?)" "p.(Ser95Pro)" "3"
"0000777070" "00001847" "70" "5327" "0" "5327" "0" "c.5327C>T" "r.(?)" "p.(Pro1776Leu)" "38"
"0000777071" "00001847" "50" "164" "0" "164" "0" "c.164A>G" "r.(?)" "p.(His55Arg)" "3"
"0000777072" "00001847" "70" "3482" "0" "3482" "0" "c.3482G>A" "r.(?)" "p.(Arg1161His)" "23"
"0000777073" "00001847" "70" "4316" "0" "4316" "0" "c.4316G>T" "r.(?)" "p.(Gly1439Val)" "29"
"0000777074" "00001847" "90" "5050" "0" "5050" "0" "c.5050del" "r.(?)" "p.(Ile1684Serfs*3)" "36"
"0000777075" "00001847" "50" "101" "0" "106" "0" "c.101_106del" "r.(?)" "p.(Ser34_Leu35del)" "2"
"0000777076" "00001847" "70" "983" "0" "983" "0" "c.983A>T" "r.(?)" "p.(Glu328Val)" "8"
"0000777077" "00001847" "70" "42" "0" "42" "0" "c.42C>A" "r.(?)" "p.(Asn14Lys)" "1"
"0000777078" "00001847" "70" "970" "0" "970" "0" "c.970T>C" "r.(?)" "p.(Cys324Arg)" "8"
"0000777079" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000777080" "00001847" "90" "1760" "2" "1760" "2" "c.1760+2T>G" "r.spl" "p.?" "12i"
"0000777081" "00001847" "90" "1760" "2" "1760" "2" "c.1760+2T>G" "r.spl" "p.?" "12i"
"0000777082" "00001847" "10" "6764" "0" "6764" "0" "c.6764G>T" "r.(?)" "p.(Ser2255Ile)" "49"
"0000777083" "00001847" "70" "5530" "0" "5530" "0" "c.5530G>T" "r.(?)" "p.(Gly1844Cys)" "39"
"0000777084" "00001847" "90" "5722" "0" "5722" "0" "c.5722G>T" "r.(?)" "p.(Glu1908*)" "41"
"0000777085" "00001847" "90" "6184" "0" "6187" "0" "c.6184_6187del" "r.(?)" "p.(Val2062Thrfs*52)" "45"
"0000777086" "00001847" "70" "4457" "0" "4457" "0" "c.4457C>T" "r.(?)" "p.(Pro1486Leu)" "30"
"0000777087" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000777088" "00001847" "90" "6005" "1" "6005" "1" "c.6005+1G>C" "r.spl" "p.?" "43i"
"0000777089" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000777090" "00001847" "70" "2549" "0" "2549" "0" "c.2549A>G" "r.(?)" "p.(Tyr850Cys)" "16"
"0000777091" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000777092" "00001847" "90" "4437" "0" "4437" "0" "c.4437G>A" "r.(?)" "p.(Trp1479*)" "30"
"0000777093" "00001847" "90" "6088" "0" "6088" "0" "c.6088C>T" "r.(?)" "p.(Arg2030*)" "44"
"0000777094" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000777095" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000777096" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000777097" "00001847" "90" "1957" "0" "1957" "0" "c.1957C>T" "r.(?)" "p.(Arg653Cys)" "14"
"0000777098" "00001847" "70" "686" "0" "686" "0" "c.686T>C" "r.(?)" "p.(Leu229Pro)" "6"
"0000777099" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000777100" "00001847" "70" "3995" "0" "4018" "0" "c.3995_4018dup" "r.(?)" "p.(Gln1332_Cys1339dup)" "27"
"0000777101" "00001847" "70" "2300" "0" "2300" "0" "c.2300T>A" "r.(?)" "p.(Val767Asp)" "15"
"0000777102" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000777103" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000777104" "00001847" "90" "6282" "1" "6282" "1" "c.6282+1G>C" "r.spl" "p.?" "45i"
"0000777105" "00001847" "70" "2875" "0" "2875" "0" "c.2875A>G" "r.(?)" "p.(Thr959Ala)" "19"
"0000777106" "00001847" "50" "6289" "0" "6289" "0" "c.6289C>T" "r.(?)" "p.(Pro2097Ser)" "46"
"0000777107" "00001847" "70" "3287" "0" "3287" "0" "c.3287C>T" "r.(?)" "p.(Ser1096Leu)" "22"
"0000777108" "00001847" "90" "3522" "1" "3522" "1" "c.3522+1G>A" "r.spl" "p.?" "23i"
"0000777109" "00001847" "70" "4553" "0" "4553" "0" "c.4553G>A" "r.(?)" "p.(Ser1518Asn)" "31"
"0000777110" "00001847" "90" "22" "0" "22" "0" "c.22C>T" "r.(?)" "p.(Gln8*)" "1"
"0000777111" "00001847" "90" "4352" "1" "4352" "1" "c.4352+1G>A" "r.spl" "p.?" "29i"
"0000777112" "00001847" "70" "6083" "0" "6083" "0" "c.6083C>T" "r.(?)" "p.(Thr2028Ile)" "44"
"0000777114" "00001847" "90" "3898" "0" "3898" "0" "c.3898C>T" "r.(?)" "p.(Arg1300*)" "27"
"0000777115" "00001847" "90" "3302" "0" "3302" "0" "c.3302G>A" "r.(?)" "p.(Trp1101*)" "22"
"0000777116" "00001847" "90" "4804" "0" "4804" "0" "c.4804del" "r.(?)" "p.(Ile1602Tyrfs*8)" "34"
"0000777117" "00001847" "50" "5324" "0" "5324" "0" "c.5324T>A" "r.(?)" "p.(Ile1775Asn)" "38"
"0000777118" "00001847" "70" "5318" "0" "5318" "0" "c.5318C>T" "r.(?)" "p.(Ala1773Val)" "38"
"0000777119" "00001847" "90" "5196" "1" "5196" "1" "c.5196+1G>A" "r.spl" "p.?" "36i"
"0000777204" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000777205" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000777206" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000777207" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000777208" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000777209" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000777210" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000777211" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000777212" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000777213" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000777214" "00001847" "90" "6238" "0" "6239" "0" "c.6238_6239del" "r.(?)" "p.(Ser2080Hisfs*16)" "45"
"0000777215" "00001847" "90" "858" "2" "858" "2" "c.858+2T>A" "r.spl" "p.?" "7i"
"0000777216" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000777217" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000777218" "00001847" "90" "2654" "-1" "2918" "1" "c.(2653+1_2654-1)_(2918+1_2919-1)del" "r.?" "p.?" "17i_19i"
"0000777219" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000777220" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000777221" "00001847" "70" "5606" "0" "5606" "0" "c.5606C>T" "r.(?)" "p.(Pro1869Leu)" "40"
"0000777222" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000777223" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000777224" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000777225" "00001847" "90" "6238" "0" "6239" "0" "c.6238_6239del" "r.(?)" "p.(Ser2080Hisfs*16)" "45"
"0000777226" "00001847" "90" "6238" "0" "6239" "0" "c.6238_6239del" "r.(?)" "p.(Ser2080Hisfs*16)" "45"
"0000777227" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000777228" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000777229" "00001847" "50" "1933" "0" "1933" "0" "c.1933G>A" "r.(?)" "p.(Asp645Asn)" "13"
"0000777230" "00001847" "70" "3349" "0" "3349" "0" "c.3349A>G" "r.(?)" "p.(Thr1117Ala)" "23"
"0000777231" "00001847" "90" "1760" "2" "1760" "2" "c.1760+2T>G" "r.spl" "p.?" "12i"
"0000777232" "00001847" "70" "3342" "0" "3344" "0" "c.3342_3344del" "r.(?)" "p.(Ile1114del)" "23"
"0000777233" "00001847" "70" "3342" "0" "3344" "0" "c.3342_3344del" "r.(?)" "p.(Ile1114del)" "23"
"0000777234" "00001847" "50" "869" "0" "869" "0" "c.869G>A" "r.(?)" "p.(Arg290Gln)" "8"
"0000777235" "00001847" "90" "3470" "0" "3470" "0" "c.3470T>G" "r.(?)" "p.(Leu1157*)" "23"
"0000777236" "00001847" "90" "880" "0" "880" "0" "c.880C>T" "r.(?)" "p.(Gln294*)" "8"
"0000777237" "00001847" "70" "1906" "0" "1906" "0" "c.1906C>A" "r.(?)" "p.(Gln636Lys)" "13"
"0000777238" "00001847" "70" "1906" "0" "1906" "0" "c.1906C>A" "r.(?)" "p.(Gln636Lys)" "13"
"0000777239" "00001847" "70" "214" "0" "214" "0" "c.214G>A" "r.(?)" "p.(Gly72Arg)" "3"
"0000777240" "00001847" "70" "214" "0" "214" "0" "c.214G>A" "r.(?)" "p.(Gly72Arg)" "3"
"0000777241" "00001847" "70" "214" "0" "214" "0" "c.214G>A" "r.(?)" "p.(Gly72Arg)" "3"
"0000777242" "00001847" "70" "214" "0" "214" "0" "c.214G>A" "r.(?)" "p.(Gly72Arg)" "3"
"0000777243" "00001847" "70" "214" "0" "214" "0" "c.214G>A" "r.(?)" "p.(Gly72Arg)" "3"
"0000777244" "00001847" "70" "214" "0" "214" "0" "c.214G>A" "r.(?)" "p.(Gly72Arg)" "3"
"0000777245" "00001847" "70" "214" "0" "214" "0" "c.214G>A" "r.(?)" "p.(Gly72Arg)" "3"
"0000777246" "00001847" "70" "214" "0" "214" "0" "c.214G>A" "r.(?)" "p.(Gly72Arg)" "3"
"0000777247" "00001847" "70" "214" "0" "214" "0" "c.214G>A" "r.(?)" "p.(Gly72Arg)" "3"
"0000777248" "00001847" "70" "214" "0" "214" "0" "c.214G>A" "r.(?)" "p.(Gly72Arg)" "3"
"0000777249" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000777250" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000777251" "00001847" "50" "5077" "0" "5077" "0" "c.5077G>A" "r.(?)" "p.(Val1693Ile)" "36"
"0000777252" "00001847" "70" "5327" "0" "5327" "0" "c.5327C>T" "r.(?)" "p.(Pro1776Leu)" "38"
"0000777253" "00001847" "90" "4254" "-2" "4254" "-2" "c.4254-2A>G" "r.spl" "p.?" "28i"
"0000777254" "00001847" "70" "5381" "0" "5381" "0" "c.5381C>A" "r.(?)" "p.(Ala1794Asp)" "38"
"0000777255" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000777256" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000777257" "00001847" "70" "1891" "0" "1891" "0" "c.1891G>A" "r.(?)" "p.(Gly631Arg)" "13"
"0000777258" "00001847" "90" "1903" "0" "1903" "0" "c.1903C>T" "r.(?)" "p.(Gln635*)" "13"
"0000777259" "00001847" "70" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" "44"
"0000777260" "00001847" "90" "3261" "0" "3261" "0" "c.3261A>C" "r.(?)" "p.(Glu1087Asp)" "22"
"0000777261" "00001847" "90" "3261" "0" "3261" "0" "c.3261A>C" "r.(?)" "p.(Glu1087Asp)" "22"
"0000777262" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000777263" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000777264" "00001847" "70" "5929" "0" "5929" "0" "c.5929G>A" "r.(?)" "p.(Gly1977Ser)" "43"
"0000777265" "00001847" "70" "6283" "-3" "6283" "-3" "c.6283-3C>A" "r.(?)" "p.(?)" "45i"
"0000777266" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000777267" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000777268" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000777269" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000777270" "00001847" "90" "3212" "0" "3212" "0" "c.3212C>T" "r.(?)" "p.(Ser1071Leu)" "22"
"0000777271" "00001847" "70" "2912" "0" "2912" "0" "c.2912C>A" "r.(?)" "p.(Thr971Asn)" "19"
"0000777272" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000777273" "00001847" "90" "6658" "0" "6658" "0" "c.6658C>T" "r.(?)" "p.(Gln2220*)" "48"
"0000777274" "00001847" "90" "4774" "-2" "4774" "-2" "c.4774-2A>G" "r.spl" "p.?" "33i"
"0000777275" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000777276" "00001847" "70" "3323" "0" "3323" "0" "c.3323G>A" "r.(?)" "p.(Arg1108His)" "22"
"0000777277" "00001847" "70" "2912" "0" "2912" "0" "c.2912C>A" "r.(?)" "p.(Thr971Asn)" "19"
"0000777278" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000777279" "00001847" "50" "1140" "0" "1140" "0" "c.1140T>A" "r.(?)" "p.(Asn380Lys)" "9"
"0000777280" "00001847" "70" "4594" "0" "4594" "0" "c.4594G>A" "r.(?)" "p.(Asp1532Asn)" "31"
"0000777281" "00001847" "90" "6088" "0" "6088" "0" "c.6088C>T" "r.(?)" "p.(Arg2030*)" "44"
"0000777282" "00001847" "70" "5881" "0" "5881" "0" "c.5881G>A" "r.(?)" "p.(Gly1961Arg)" "42"
"0000777283" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000777284" "00001847" "50" "6877" "0" "6877" "0" "c.*55G>A" "r.(?)" "p.(?)" "50"
"0000777285" "00001847" "70" "5332" "0" "5332" "0" "c.5332A>G" "r.(?)" "p.(Met1778Val)" "38"
"0000777286" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000777287" "00001847" "70" "5332" "0" "5332" "0" "c.5332A>G" "r.(?)" "p.(Met1778Val)" "38"
"0000777288" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000777289" "00001847" "50" "768" "0" "768" "0" "c.768G>C" "r.spl?" "p.(Val256=)" "6"
"0000777290" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000777291" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000777292" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000777293" "00001847" "90" "1937" "1" "1937" "1" "c.1937+1G>A" "r.spl" "p.?" "13i"
"0000777294" "00001847" "70" "388" "0" "388" "0" "c.388C>A" "r.(?)" "p.(His130Asn)" "4"
"0000777295" "00001847" "50" "768" "0" "768" "0" "c.768G>C" "r.spl?" "p.(Val256=)" "6"
"0000777296" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000777297" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000777298" "00001847" "70" "4532" "0" "4532" "0" "c.4532C>A" "r.(?)" "p.(Pro1511His)" "30"
"0000777299" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000777300" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000777301" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000777302" "00001847" "90" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071Cysfs*14)" "22"
"0000777303" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000777304" "00001847" "50" "4685" "0" "4685" "0" "c.4685T>C" "r.(?)" "p.(Ile1562Thr)" "33"
"0000777305" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000777306" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000777307" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000777308" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000777309" "00001847" "70" "6410" "0" "6410" "0" "c.6410G>A" "r.(?)" "p.(Cys2137Tyr)" "47"
"0000777310" "00001847" "70" "5318" "0" "5318" "0" "c.5318C>T" "r.(?)" "p.(Ala1773Val)" "38"
"0000777311" "00001847" "70" "3106" "0" "3106" "0" "c.3106G>A" "r.(?)" "p.(Glu1036Lys)" "21"
"0000777312" "00001847" "90" "2063" "0" "2063" "0" "c.2063dup" "r.(?)" "p.(Asn688Lysfs*78)" "14"
"0000777313" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000777314" "00001847" "70" "3304" "0" "3304" "0" "c.3304G>T" "r.(?)" "p.(Asp1102Tyr)" "22"
"0000777315" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000777316" "00001847" "70" "6107" "0" "6107" "0" "c.6107A>G" "r.(?)" "p.(Tyr2036Cys)" "44"
"0000777317" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000777318" "00001847" "90" "2966" "0" "2966" "0" "c.2966T>C" "r.(?)" "p.(Val989Ala)" "20"
"0000777319" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000777320" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000777321" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000777322" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.[(768g>u;768_769ins768+1_768+35)]" "p.(Leu257Valfs*17)" "6"
"0000777323" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000777324" "00001847" "90" "454" "0" "454" "0" "c.454C>T" "r.(?)" "p.(Arg152*)" "5"
"0000777325" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000777326" "00001847" "70" "4169" "0" "4169" "0" "c.4169T>C" "r.(?)" "p.(Leu1390Pro)" "28"
"0000777327" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000777328" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000777329" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000777330" "00001847" "90" "454" "0" "454" "0" "c.454C>T" "r.(?)" "p.(Arg152*)" "5"
"0000777331" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000777332" "00001847" "90" "3056" "0" "3056" "0" "c.3056C>T" "r.(?)" "p.(Thr1019Met)" "21"
"0000777333" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000777334" "00001847" "90" "454" "0" "454" "0" "c.454C>T" "r.(?)" "p.(Arg152*)" "5"
"0000777335" "00001847" "10" "6282" "7" "6282" "7" "c.6282+7G>A" "r.(?)" "p.(?)" "45i"
"0000777336" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000777337" "00001847" "70" "4319" "0" "4319" "0" "c.4319T>C" "r.(?)" "p.(Phe1440Ser)" "29"
"0000777338" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000777339" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000777340" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000777341" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000777342" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000777343" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.[(768g>u;768_769ins768+1_768+35)]" "p.(Leu257Valfs*17)" "6"
"0000777344" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000777345" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000777346" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000777347" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000777348" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000777349" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000777350" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000777351" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000777352" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000777353" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000777354" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000777355" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000777356" "00001847" "70" "872" "0" "872" "0" "c.872C>T" "r.(?)" "p.(Pro291Leu)" "8"
"0000777357" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000777358" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000777359" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000777360" "00001847" "70" "5512" "0" "5512" "0" "c.5512C>A" "r.(?)" "p.(His1838Asn)" "39"
"0000777361" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000777362" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000777363" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000777364" "00001847" "70" "5560" "0" "5560" "0" "c.5560G>T" "r.(?)" "p.(Val1854Leu)" "39"
"0000777365" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000777366" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000777367" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000777368" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000777369" "00001847" "90" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071Cysfs*14)" "22"
"0000777370" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000777371" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000777372" "00001847" "70" "6449" "0" "6449" "0" "c.6449G>A" "r.(?)" "p.(Cys2150Tyr)" "47"
"0000777373" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000777374" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000777375" "00001847" "70" "4222" "0" "4222" "0" "c.4222T>C" "r.(?)" "p.(Trp1408Arg)" "28"
"0000777376" "00001847" "50" "4225" "0" "4225" "0" "c.4225A>G" "r.(?)" "p.(Ile1409Val)" "28"
"0000777377" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000777378" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000777379" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000777380" "00001847" "50" "5715" "-5" "5715" "-5" "c.5715-5T>C" "r.(?)" "p.(?)" "40i"
"0000777381" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000777382" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000777383" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000777384" "00001847" "90" "4540" "-2" "4540" "-2" "c.4540-2A>G" "r.spl" "p.?" "30i"
"0000777385" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000777386" "00001847" "70" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.[=,5196_5197ins5196+1140_5196+1212]" "p.[=,Met1733Glufs*78]" "36i"
"0000777387" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000777388" "00001847" "90" "240" "0" "241" "0" "c.240_241del" "r.(?)" "p.(Cys81Phefs*17)" "3"
"0000777389" "00001847" "70" "5318" "0" "5318" "0" "c.5318C>T" "r.(?)" "p.(Ala1773Val)" "38"
"0000777390" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000777391" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000777392" "00001847" "90" "1761" "-2" "1761" "-2" "c.1761-2A>G" "r.spl" "p.?" "13"
"0000777393" "00001847" "50" "101" "0" "106" "0" "c.101_106del" "r.(?)" "p.(Ser34_Leu35del)" "2"
"0000777394" "00001847" "70" "2261" "0" "2261" "0" "c.2261T>C" "r.(?)" "p.(Phe754Ser)" "15"
"0000777395" "00001847" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408*)" "9"
"0000777396" "00001847" "70" "1892" "0" "1892" "0" "c.1892G>T" "r.(?)" "p.(Gly631Val)" "13"
"0000777397" "00001847" "50" "5761" "0" "5761" "0" "c.5761G>A" "r.(?)" "p.(Val1921Met)" "41"
"0000777398" "00001847" "70" "3476" "0" "3476" "0" "c.3476T>C" "r.(?)" "p.(Leu1159Ser)" "23"
"0000777399" "00001847" "70" "3547" "0" "3547" "0" "c.3547G>T" "r.(?)" "p.(Gly1183Cys)" "24"
"0000777400" "00001847" "70" "2960" "0" "2960" "0" "c.2960T>G" "r.(?)" "p.(Val987Gly)" "20"
"0000777401" "00001847" "90" "1561" "0" "1561" "0" "c.1561del" "r.(?)" "p.(Val521Serfs*47)" "12"
"0000777402" "00001847" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408*)" "9"
"0000777403" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000777404" "00001847" "90" "1006" "0" "1006" "0" "c.1006del" "r.(?)" "p.(Ser336Profs*38)" "8"
"0000777405" "00001847" "70" "6050" "0" "6050" "0" "c.6050G>A" "r.(?)" "p.(Cys2017Tyr)" "44"
"0000777406" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000777407" "00001847" "90" "1761" "-2" "1761" "-2" "c.1761-2A>G" "r.spl" "p.?" "13"
"0000777408" "00001847" "70" "6283" "0" "6283" "0" "c.6283G>C" "r.(?)" "p.(Asp2095His)" "46"
"0000777409" "00001847" "70" "1748" "0" "1748" "0" "c.1748A>C" "r.(?)" "p.(Lys583Thr)" "12"
"0000777410" "00001847" "70" "3287" "0" "3287" "0" "c.3287C>T" "r.(?)" "p.(Ser1096Leu)" "22"
"0000777411" "00001847" "70" "3385" "0" "3385" "0" "c.3385C>T" "r.(?)" "p.(Arg1129Cys)" "23"
"0000777412" "00001847" "70" "53" "0" "53" "0" "c.53G>C" "r.(?)" "p.(Arg18Pro)" "1"
"0000777413" "00001847" "70" "3364" "0" "3364" "0" "c.3364G>A" "r.(?)" "p.(Glu1122Lys)" "23"
"0000777414" "00001847" "70" "4217" "0" "4217" "0" "c.4217A>G" "r.(?)" "p.(His1406Arg)" "28"
"0000777415" "00001847" "70" "3482" "0" "3482" "0" "c.3482G>A" "r.(?)" "p.(Arg1161His)" "23"
"0000777416" "00001847" "90" "1819" "0" "1819" "0" "c.1819G>A" "r.(?)" "p.(Gly607Arg)" "13"
"0000777417" "00001847" "70" "203" "0" "203" "0" "c.203C>T" "r.(?)" "p.(Pro68Leu)" "3"
"0000777418" "00001847" "90" "6619" "0" "6619" "0" "c.6619C>T" "r.(?)" "p.(Gln2207*)" "48"
"0000777419" "00001847" "70" "3106" "0" "3106" "0" "c.3106G>A" "r.(?)" "p.(Glu1036Lys)" "21"
"0000777420" "00001847" "70" "1757" "0" "1757" "0" "c.1757A>G" "r.(?)" "p.(Asp586Gly)" "12"
"0000777421" "00001847" "70" "3476" "0" "3476" "0" "c.3476T>C" "r.(?)" "p.(Leu1159Ser)" "23"
"0000777422" "00001847" "90" "303" "-2" "303" "-2" "c.303-2A>G" "r.spl" "p.?" "3i"
"0000777423" "00001847" "90" "3329" "-2" "3329" "-2" "c.3329-2A>G" "r.spl" "p.?" "22i"
"0000777424" "00001847" "90" "1761" "-2" "1761" "-2" "c.1761-2A>G" "r.spl" "p.?" "13"
"0000777425" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000777426" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000777427" "00001847" "70" "2846" "0" "2846" "0" "c.2846T>G" "r.(?)" "p.(Leu949Arg)" "19"
"0000777428" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000777429" "00001847" "70" "2846" "0" "2846" "0" "c.2846T>G" "r.(?)" "p.(Leu949Arg)" "19"
"0000777430" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000777431" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000777432" "00001847" "50" "1492" "0" "1492" "0" "c.1492G>A" "r.(?)" "p.(Asp498Asn)" "11"
"0000777433" "00001847" "70" "4016" "0" "4017" "0" "c.4016_4017insN[24]" "r.(?)" "p.(?)" "27"
"0000777434" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000777435" "00001847" "70" "2846" "0" "2846" "0" "c.2846T>G" "r.(?)" "p.(Leu949Arg)" "19"
"0000777436" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000777437" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000777438" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000777439" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000777440" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000777441" "00001847" "50" "1964" "0" "1964" "0" "c.1964T>G" "r.(?)" "p.(Phe655Cys)" "14"
"0000777442" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000777443" "00001847" "70" "401" "0" "402" "0" "c.401_402insN[24]" "r.(?)" "p.(?)" "4"
"0000777444" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000777445" "00001847" "70" "2382" "4" "2382" "4" "c.2382+4A>G" "r.spl?" "p.(?)" "15"
"0000777446" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000777447" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000777448" "00001847" "70" "2570" "0" "2570" "0" "c.2570T>C" "r.(?)" "p.(Leu857Pro)" "16"
"0000777449" "00001847" "70" "6380" "0" "6380" "0" "c.6380C>T" "r.(?)" "p.(Ser2127Phe)" "46"
"0000777450" "00001847" "50" "6148" "0" "6148" "0" "c.6148G>C" "r.=" "p.(Val2050Leu)" "45"
"0000777451" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000777452" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000777453" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000777454" "00001847" "70" "2570" "0" "2570" "0" "c.2570T>C" "r.(?)" "p.(Leu857Pro)" "16"
"0000777455" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000777456" "00001847" "70" "5512" "0" "5512" "0" "c.5512C>G" "r.(?)" "p.(His1838Asp)" "39"
"0000777457" "00001847" "70" "6820" "0" "6820" "0" "c.6820T>A" "r.(?)" "p.(*2274Argext*34)" "50"
"0000777458" "00001847" "70" "1610" "0" "1610" "0" "c.1610G>A" "r.(?)" "p.(Arg537His)" "12"
"0000777459" "00001847" "70" "6820" "0" "6820" "0" "c.6820T>A" "r.(?)" "p.(*2274Argext*34)" "50"
"0000777460" "00001847" "70" "2570" "0" "2570" "0" "c.2570T>C" "r.(?)" "p.(Leu857Pro)" "16"
"0000777461" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000777462" "00001847" "70" "2570" "0" "2570" "0" "c.2570T>C" "r.(?)" "p.(Leu857Pro)" "16"
"0000777463" "00001847" "50" "4328" "0" "4328" "0" "c.4328G>A" "r.(?)" "p.(Arg1443His)" "29"
"0000777464" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000777465" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000777466" "00001847" "70" "293" "0" "293" "0" "c.293A>G" "r.(?)" "p.(Asn98Ser)" "3"
"0000777467" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000777468" "00001847" "90" "2160" "2" "2160" "2" "c.2160+2T>G" "r.spl" "p.?" "14i"
"0000777469" "00001847" "70" "2063" "0" "2063" "0" "c.2063A>T" "r.(?)" "p.(Asn688Ile)" "14"
"0000777470" "00001847" "90" "2564" "0" "2564" "0" "c.2564G>A" "r.(?)" "p.(Trp855*)" "16"
"0000777471" "00001847" "70" "4216" "0" "4216" "0" "c.4216C>T" "r.(?)" "p.(His1406Tyr)" "28"
"0000777472" "00001847" "50" "6148" "0" "6148" "0" "c.6148G>C" "r.=" "p.(Val2050Leu)" "45"
"0000777473" "00001847" "70" "4468" "0" "4468" "0" "c.4468T>C" "r.(?)" "p.(Cys1490Arg)" "30"
"0000777474" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000777475" "00001847" "70" "3364" "0" "3364" "0" "c.3364G>A" "r.(?)" "p.(Glu1122Lys)" "23"
"0000777476" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000777477" "00001847" "90" "2239" "0" "2239" "0" "c.2239del" "r.(?)" "p.(Leu747Cysfs*40)" "15"
"0000777478" "00001847" "70" "4319" "0" "4319" "0" "c.4319T>C" "r.(?)" "p.(Phe1440Ser)" "29"
"0000777479" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000777480" "00001847" "70" "1715" "0" "1715" "0" "c.1715G>A" "r.(?)" "p.(Arg572Gln)" "12"
"0000777481" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000777482" "00001847" "90" "3329" "-1" "3329" "-1" "c.3329-1G>A" "r.spl" "p.?" "22i"
"0000777483" "00001847" "70" "161" "0" "161" "0" "c.161G>A" "r.[161_302del,161g>a]" "p.[Cys54Serfs*14,Cys54Tyr]" "3"
"0000777484" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000777485" "00001847" "70" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.[=,5196_5197ins5196+1140_5196+1212]" "p.[=,Met1733Glufs*78]" "36i"
"0000777486" "00001847" "50" "6148" "0" "6148" "0" "c.6148G>C" "r.=" "p.(Val2050Leu)" "45"
"0000777487" "00001847" "70" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.[=,5196_5197ins5196+1140_5196+1212]" "p.[=,Met1733Glufs*78]" "36i"
"0000777488" "00001847" "70" "859" "-506" "859" "-506" "c.859-506G>C" "r.[858_859ins859-503_859-447,=]" "p.[Phe287Thrfs*32,=]" "7i"
"0000777489" "00001847" "70" "859" "-506" "859" "-506" "c.859-506G>C" "r.[858_859ins859-503_859-447,=]" "p.[Phe287Thrfs*32,=]" "7i"
"0000777490" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000777491" "00001847" "70" "1761" "-1" "1937" "1" "c.(1760+1_1761-1)_(1937+1_1938-1)del" "r.(?)" "p.(Arg587_Asp645del)" "12i_13i"
"0000777492" "00001847" "10" "635" "0" "635" "0" "c.635G>A" "r.(?)" "p.(Arg212His)" "6"
"0000777493" "00001847" "10" "1268" "0" "1268" "0" "c.1268A>G" "r.(?)" "p.(His423Arg)" "10"
"0000777494" "00001847" "10" "635" "0" "635" "0" "c.635G>A" "r.(?)" "p.(Arg212His)" "6"
"0000777495" "00001847" "10" "1268" "0" "1268" "0" "c.1268A>G" "r.(?)" "p.(His423Arg)" "10"
"0000777496" "00001847" "90" "5460" "1" "5460" "1" "c.5460+1G>A" "r.spl" "p.?" "38i"
"0000777497" "00001847" "70" "5381" "0" "5381" "0" "c.5381C>A" "r.(?)" "p.(Ala1794Asp)" "38"
"0000777498" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000777499" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000777500" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000777501" "00001847" "70" "694" "0" "694" "0" "c.694C>T" "r.(?)" "p.(Leu232Phe)" "6"
"0000777502" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000777503" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000777504" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000777505" "00001847" "70" "3243" "0" "3243" "0" "c.3243G>T" "r.(?)" "p.(Lys1081Asn)" "22"
"0000777506" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000777507" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000777508" "00001847" "90" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973*)" "43"
"0000777509" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000777510" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000777511" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000777512" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000777513" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000777514" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000777515" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000777516" "00001847" "70" "5549" "0" "5549" "0" "c.5549T>C" "r.(?)" "p.(Leu1850Pro)" "39"
"0000777517" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000777518" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000777519" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000777520" "00001847" "90" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973*)" "43"
"0000777521" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000777522" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000777523" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000777524" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000777525" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000777526" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000777527" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000777528" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000777529" "00001847" "70" "6729" "5" "6729" "19" "c.6729+5_6729+19del" "r.6480_6729del" "p.(Phe2161Cysfs*3)" "48i"
"0000777530" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000777531" "00001847" "90" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.(Met1Val)" "1"
"0000777532" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000777533" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000777534" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000777535" "00001847" "70" "1891" "0" "1891" "0" "c.1891G>A" "r.(?)" "p.(Gly631Arg)" "13"
"0000777536" "00001847" "90" "6419" "0" "6419" "0" "c.6419T>G" "r.(?)" "p.(Leu2140Gln)" "47"
"0000777537" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000777538" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000777539" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000777540" "00001847" "70" "4462" "0" "4462" "0" "c.4462T>C" "r.(?)" "p.(Cys1488Arg)" "30"
"0000777541" "00001847" "70" "1523" "0" "1523" "0" "c.1523G>C" "r.(?)" "p.(Arg508Pro)" "11"
"0000777542" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000777543" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000777544" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000777545" "00001847" "90" "3261" "0" "3261" "0" "c.3261A>C" "r.(?)" "p.(Glu1087Asp)" "22"
"0000777546" "00001847" "90" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973*)" "43"
"0000777547" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000777548" "00001847" "70" "4463" "0" "4463" "0" "c.4463G>A" "r.(?)" "p.(Cys1488Tyr)" "30"
"0000777549" "00001847" "50" "6148" "0" "6148" "0" "c.6148G>C" "r.=" "p.(Val2050Leu)" "45"
"0000777550" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000777551" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000777552" "00001847" "70" "6449" "0" "6449" "0" "c.6449G>A" "r.(?)" "p.(Cys2150Tyr)" "47"
"0000777553" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000777554" "00001847" "50" "4771" "0" "4771" "0" "c.4771G>A" "r.(?)" "p.(Gly1591Arg)" "33"
"0000777555" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000777556" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000777557" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000777558" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000777559" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000777560" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000777561" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000777562" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000777563" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000777564" "00001847" "90" "4234" "0" "4234" "0" "c.4234C>T" "r.(?)" "p.(Gln1412*)" "28"
"0000777565" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000777566" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000777567" "00001847" "70" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" "44"
"0000777568" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000777569" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000777570" "00001847" "90" "1584" "0" "1584" "0" "c.1584C>A" "r.(?)" "p.(Tyr528*)" "12"
"0000777571" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000777572" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000777573" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000777574" "00001847" "90" "1937" "1" "1937" "1" "c.1937+1G>A" "r.spl" "p.?" "13i"
"0000777575" "00001847" "70" "1009" "0" "1009" "0" "c.1009T>C" "r.(?)" "p.(Phe337Leu)" "8"
"0000777576" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000777577" "00001847" "70" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" "44"
"0000777578" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000777579" "00001847" "70" "5329" "0" "5329" "0" "c.5329A>T" "r.(?)" "p.(Met1777Leu)" "38"
"0000777580" "00001847" "90" "45" "0" "45" "0" "c.45G>A" "r.(?)" "p.(Trp15*)" "1"
"0000777581" "00001847" "50" "4685" "0" "4685" "0" "c.4685T>C" "r.(?)" "p.(Ile1562Thr)" "33"
"0000777582" "00001847" "90" "4458" "0" "4458" "0" "c.4458del" "r.(?)" "p.(Ser1487Profs*39)" "30"
"0000777583" "00001847" "70" "4793" "0" "4793" "0" "c.4793C>A" "r.(?)" "p.(Ala1598Asp)" "34"
"0000777584" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000777585" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000777586" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000777587" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000777588" "00001847" "90" "4234" "0" "4234" "0" "c.4234C>T" "r.(?)" "p.(Gln1412*)" "28"
"0000777589" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000777590" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000777591" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000777592" "00001847" "70" "6545" "0" "6580" "0" "c.6545_6580del" "r.(?)" "p.(Leu2182_Phe2193del)" "48"
"0000777593" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000777594" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000777595" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000777596" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000777597" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000777598" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000777599" "00001847" "70" "6334" "0" "6334" "0" "c.6334G>C" "r.(?)" "p.(Val2112Leu)" "46"
"0000777600" "00001847" "90" "1555" "-1" "1937" "1" "c.(1554+1_1555-1)_(1937+1_1938-1)del" "r.?" "p.?" "11i_13i"
"0000777601" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000777602" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000777603" "00001847" "90" "5196" "2" "5196" "2" "c.5196+2T>C" "r.spl" "p.?" "36i"
"0000777604" "00001847" "90" "6118" "0" "6118" "0" "c.6118C>T" "r.(?)" "p.(Arg2040*)" "44"
"0000777605" "00001847" "50" "5693" "0" "5693" "0" "c.5693G>A" "r.(?)" "p.(Arg1898His)" "40"
"0000777606" "00001847" "90" "6118" "0" "6118" "0" "c.6118C>T" "r.(?)" "p.(Arg2040*)" "44"
"0000777607" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000777608" "00001847" "90" "1903" "0" "1903" "0" "c.1903C>T" "r.(?)" "p.(Gln635*)" "13"
"0000777609" "00001847" "50" "1928" "0" "1928" "0" "c.1928T>G" "r.(?)" "p.(Val643Gly)" "13"
"0000777610" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000777611" "00001847" "70" "1356" "3" "1356" "4" "c.1356+3_1356+4insG" "r.spl?" "p.(?)" "10i"
"0000777612" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000777613" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000777614" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000777615" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000777616" "00001847" "50" "4771" "0" "4771" "0" "c.4771G>A" "r.(?)" "p.(Gly1591Arg)" "33"
"0000777617" "00001847" "90" "4234" "0" "4234" "0" "c.4234C>T" "r.(?)" "p.(Gln1412*)" "28"
"0000777618" "00001847" "70" "6229" "0" "6229" "0" "c.6229C>T" "r.(?)" "p.(Arg2077Trp)" "45"
"0000777619" "00001847" "70" "1715" "0" "1715" "0" "c.1715G>A" "r.(?)" "p.(Arg572Gln)" "12"
"0000777620" "00001847" "70" "1588" "0" "1588" "0" "c.1588G>A" "r.(?)" "p.(Asp530Asn)" "12"
"0000777621" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000777622" "00001847" "70" "6031" "0" "6044" "0" "c.6031_6044delinsAGTATTTAACCAATATTT" "r.(?)" "p.(His2011Serfs*3)" "44"
"0000777623" "00001847" "70" "6031" "0" "6044" "0" "c.6031_6044delinsAGTATTTAACCAATATTT" "r.(?)" "p.(His2011Serfs*3)" "44"
"0000777624" "00001847" "70" "6031" "0" "6044" "0" "c.6031_6044delinsAGTATTTAACCAATATTT" "r.(?)" "p.(His2011Serfs*3)" "44"
"0000777625" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000777626" "00001847" "70" "6563" "0" "6563" "0" "c.6563T>C" "r.(?)" "p.(Phe2188Ser)" "48"
"0000777627" "00001847" "90" "3028" "0" "3028" "0" "c.3028C>T" "r.(?)" "p.(Gln1010*)" "20"
"0000777628" "00001847" "70" "1232" "0" "1232" "0" "c.1232T>C" "r.(?)" "p.(Leu411Pro)" "9"
"0000777629" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000777630" "00001847" "70" "3323" "0" "3323" "0" "c.3323G>A" "r.(?)" "p.(Arg1108His)" "22"
"0000777631" "00001847" "90" "3190" "1" "3190" "1" "c.3190+1G>C" "r.(?)" "p.(?)" "21i"
"0000777632" "00001847" "70" "3308" "0" "3308" "0" "c.3308T>C" "r.(?)" "p.(Leu1103Pro)" "22"
"0000777633" "00001847" "70" "4163" "0" "4163" "0" "c.4163T>C" "r.(?)" "p.(Leu1388Pro)" "28"
"0000777634" "00001847" "70" "4163" "0" "4163" "0" "c.4163T>C" "r.(?)" "p.(Leu1388Pro)" "28"
"0000777635" "00001847" "70" "4163" "0" "4163" "0" "c.4163T>C" "r.(?)" "p.(Leu1388Pro)" "28"
"0000777636" "00001847" "90" "67" "-1" "67" "-1" "c.67-1del" "r.spl" "p.?" "1i"
"0000777637" "00001847" "90" "67" "-1" "67" "-1" "c.67-1del" "r.spl" "p.?" "1i"
"0000777638" "00001847" "90" "67" "-1" "67" "-1" "c.67-1del" "r.spl" "p.?" "1i"
"0000777639" "00001847" "70" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" "44"
"0000777640" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000777641" "00001847" "70" "4163" "0" "4163" "0" "c.4163T>C" "r.(?)" "p.(Leu1388Pro)" "28"
"0000777642" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000777643" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000777644" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000777645" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000777646" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000777647" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000777648" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000777649" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000777650" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000777651" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000777652" "00001847" "70" "6449" "0" "6449" "0" "c.6449G>A" "r.(?)" "p.(Cys2150Tyr)" "47"
"0000777653" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000777654" "00001847" "90" "4537" "0" "4537" "0" "c.4537del" "r.(?)" "p.(Gln1513Argfs*13)" "30"
"0000777655" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000777656" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000777657" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000777658" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000777659" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000777660" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000777661" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000777662" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000777663" "00001847" "70" "3323" "0" "3323" "0" "c.3323G>A" "r.(?)" "p.(Arg1108His)" "22"
"0000777664" "00001847" "90" "2564" "0" "2564" "0" "c.2564G>A" "r.(?)" "p.(Trp855*)" "16"
"0000777665" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000777666" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000777667" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000777668" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000777669" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000777670" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000777671" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000777672" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000777673" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000777674" "00001847" "90" "3881" "0" "3885" "0" "c.3881_3885del" "r.(?)" "p.(Arg1294Lysfs*126)" "27"
"0000777675" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000777676" "00001847" "70" "4855" "0" "4855" "0" "c.4855T>C" "r.(?)" "p.(Phe1619Leu)" "35"
"0000777677" "00001847" "90" "2481" "0" "2481" "0" "c.2481del" "r.(?)" "p.(Thr829Argfs*14)" "16"
"0000777678" "00001847" "50" "5395" "0" "5395" "0" "c.5395A>G" "r.(?)" "p.(Asn1799Asp)" "38"
"0000777679" "00001847" "50" "5242" "0" "5242" "0" "c.5242G>A" "r.(?)" "p.(Gly1748Arg)" "37"
"0000777680" "00001847" "70" "4672" "0" "4672" "0" "c.4672G>A" "r.(?)" "p.(Gly1558Arg)" "33"
"0000777681" "00001847" "70" "5929" "0" "5929" "0" "c.5929G>A" "r.(?)" "p.(Gly1977Ser)" "43"
"0000777682" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000777683" "00001847" "90" "5196" "1056" "5196" "1056" "c.5196+1056A>G" "r.5196_5197ins5196+880_5196+1056" "p.(Met1733Valfs*2)" "36i"
"0000777684" "00001847" "50" "5395" "0" "5395" "0" "c.5395A>G" "r.(?)" "p.(Asn1799Asp)" "38"
"0000777685" "00001847" "70" "5914" "0" "5914" "0" "c.5914G>A" "r.(?)" "p.(Gly1972Arg)" "43"
"0000777686" "00001847" "70" "5819" "0" "5819" "0" "c.5819T>C" "r.(?)" "p.(Leu1940Pro)" "41"
"0000777687" "00001847" "70" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.[=,5196_5197ins5196+1140_5196+1212]" "p.[=,Met1733Glufs*78]" "36i"
"0000777688" "00001847" "70" "1633" "0" "1633" "0" "c.1633A>T" "r.(?)" "p.(Asn545Tyr)" "12"
"0000777689" "00001847" "70" "5377" "0" "5377" "0" "c.5377G>A" "r.(?)" "p.(Val1793Met)" "38"
"0000777690" "00001847" "70" "6179" "0" "6179" "0" "c.6179T>G" "r.(?)" "p.(Leu2060Arg)" "45"
"0000777691" "00001847" "70" "3364" "0" "3364" "0" "c.3364G>A" "r.(?)" "p.(Glu1122Lys)" "23"
"0000777692" "00001847" "50" "2023" "0" "2023" "0" "c.2023G>A" "r.(?)" "p.(Val675Ile)" "14"
"0000777693" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000777694" "00001847" "70" "1357" "0" "1554" "0" "c.1357_1554del" "r.(?)" "p.(Asp453_Glu518del)" "11"
"0000777695" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000777696" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000777697" "00001847" "70" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" "35"
"0000777698" "00001847" "90" "4539" "2064" "4539" "2064" "c.4539+2064C>T" "r.[=,4539_4540ins4539+1891_4540-2162]" "p.[=,Arg1514Leufs*36]" "30i"
"0000777699" "00001847" "50" "4283" "0" "4283" "0" "c.4283C>T" "r.(?)" "p.(Thr1428Met)" "29"
"0000777700" "00001847" "50" "5761" "0" "5761" "0" "c.5761G>A" "r.(?)" "p.(Val1921Met)" "41"
"0000777701" "00001847" "90" "699" "0" "768" "341" "c.699_768+341del" "r.(?)" "p.(Gln234Phefs*5)" "6_6i"
"0000777702" "00001847" "90" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071Cysfs*14)" "22"
"0000777703" "00001847" "90" "4539" "2064" "4539" "2064" "c.4539+2064C>T" "r.[=,4539_4540ins4539+1891_4540-2162]" "p.[=,Arg1514Leufs*36]" "30i"
"0000777704" "00001847" "90" "3871" "0" "3871" "0" "c.3871C>T" "r.(?)" "p.(Gln1291*)" "27"
"0000777705" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000777706" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000777707" "00001847" "70" "4253" "5" "4253" "5" "c.4253+5G>A" "r.4129_4253del" "p.(Ile1377Hisfs*3)" "28i"
"0000777708" "00001847" "70" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" "35"
"0000777709" "00001847" "90" "6310" "0" "6310" "0" "c.6310C>T" "r.(?)" "p.(Gln2104*)" "46"
"0000777710" "00001847" "70" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" "44"
"0000777711" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000777712" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000777713" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000777714" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000777715" "00001847" "90" "5655" "0" "5655" "0" "c.5655del" "r.(?)" "p.(Val1887Trpfs*6)" "40"
"0000777716" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000777717" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000777718" "00001847" "90" "5858" "0" "5858" "0" "c.5858del" "r.(?)" "p.(Pro1953Glnfs*21)" "42"
"0000777719" "00001847" "90" "3056" "0" "3056" "0" "c.3056C>T" "r.(?)" "p.(Thr1019Met)" "21"
"0000777720" "00001847" "50" "4926" "0" "4926" "0" "c.4926C>G" "r.(?)" "p.(Ser1642Arg)" "35"
"0000777721" "00001847" "70" "5044" "0" "5058" "0" "c.5044_5058del" "r.(?)" "p.(Val1682_Val1686del)" "36"
"0000777722" "00001847" "90" "6147" "2" "6147" "2" "c.6147+2T>A" "r.spl" "p.?" "44i"
"0000777723" "00001847" "90" "4539" "2064" "4539" "2064" "c.4539+2064C>T" "r.[=,4539_4540ins4539+1891_4540-2162]" "p.[=,Arg1514Leufs*36]" "30i"
"0000777724" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000777725" "00001847" "90" "2888" "0" "2888" "0" "c.2888del" "r.(?)" "p.(Gly963Alafs*14)" "19"
"0000777726" "00001847" "50" "1933" "0" "1933" "0" "c.1933G>A" "r.(?)" "p.(Asp645Asn)" "13"
"0000777727" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000777728" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000777729" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000777730" "00001847" "70" "6179" "0" "6179" "0" "c.6179T>G" "r.(?)" "p.(Leu2060Arg)" "45"
"0000777731" "00001847" "90" "6088" "0" "6088" "0" "c.6088C>T" "r.(?)" "p.(Arg2030*)" "44"
"0000777732" "00001847" "70" "4457" "0" "4457" "0" "c.4457C>T" "r.(?)" "p.(Pro1486Leu)" "30"
"0000777733" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000777734" "00001847" "70" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" "35"
"0000777735" "00001847" "90" "3898" "0" "3898" "0" "c.3898C>T" "r.(?)" "p.(Arg1300*)" "27"
"0000777736" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000777737" "00001847" "50" "6718" "0" "6718" "0" "c.6718A>G" "r.(?)" "p.(Thr2240Ala)" "48"
"0000777738" "00001847" "90" "6147" "0" "6147" "7" "c.6147_6147+7del" "r.(?)" "p.(Val2050Leufs*11)" "44"
"0000777739" "00001847" "70" "6449" "0" "6449" "0" "c.6449G>A" "r.(?)" "p.(Cys2150Tyr)" "47"
"0000777740" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000777741" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000777742" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000777743" "00001847" "90" "4537" "0" "4537" "0" "c.4537dup" "r.(?)" "p.(Gln1513Profs*42)" "30"
"0000777744" "00001847" "70" "5914" "0" "5914" "0" "c.5914G>A" "r.(?)" "p.(Gly1972Arg)" "43"
"0000777745" "00001847" "70" "4457" "0" "4457" "0" "c.4457C>T" "r.(?)" "p.(Pro1486Leu)" "30"
"0000777746" "00001847" "90" "6387" "-1" "6387" "-1" "c.6387-1G>A" "r.spl" "p.?" "46i"
"0000777747" "00001847" "70" "6179" "0" "6179" "0" "c.6179T>G" "r.(?)" "p.(Leu2060Arg)" "45"
"0000777748" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000777749" "00001847" "10" "5843" "0" "5843" "0" "c.5843C>T" "r.(?)" "p.(Pro1948Leu)" "42"
"0000777750" "00001847" "70" "6179" "0" "6179" "0" "c.6179T>G" "r.(?)" "p.(Leu2060Arg)" "45"
"0000777751" "00001847" "50" "6718" "0" "6718" "0" "c.6718A>G" "r.(?)" "p.(Thr2240Ala)" "48"
"0000777752" "00001847" "70" "6410" "0" "6410" "0" "c.6410G>A" "r.(?)" "p.(Cys2137Tyr)" "47"
"0000777753" "00001847" "70" "6221" "0" "6221" "0" "c.6221G>A" "r.(?)" "p.(Gly2074Asp)" "45"
"0000777754" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000777755" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000777756" "00001847" "70" "4253" "43" "4253" "43" "c.4253+43G>A" "r.[=,4129_4253del]" "p.[=,Ile1377Hisfs*3]" "28i"
"0000777757" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000777758" "00001847" "90" "4849" "0" "4849" "0" "c.4849del" "r.(?)" "p.(Val1617Cysfs*45)" "35"
"0000777759" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000777760" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000777761" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000777762" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000777763" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000777764" "00001847" "10" "3899" "0" "3899" "0" "c.3899G>A" "r.(?)" "p.(Arg1300Gln)" "27"
"0000777765" "00001847" "90" "5317" "0" "5318" "0" "c.5317_5318insA" "r.(?)" "p.(Ala1773Aspfs*14)" "38"
"0000777766" "00001847" "90" "2488" "0" "2488" "0" "c.2488G>T" "r.(?)" "p.(Glu830*)" "16"
"0000777767" "00001847" "90" "4537" "0" "4537" "0" "c.4537dup" "r.(?)" "p.(Gln1513Profs*42)" "30"
"0000777768" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000777769" "00001847" "70" "4253" "43" "4253" "43" "c.4253+43G>A" "r.[=,4129_4253del]" "p.[=,Ile1377Hisfs*3]" "28i"
"0000777770" "00001847" "70" "5549" "0" "5549" "0" "c.5549T>C" "r.(?)" "p.(Leu1850Pro)" "39"
"0000777771" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000777772" "00001847" "90" "950" "0" "950" "0" "c.950del" "r.(?)" "p.(Gly317Alafs*57)" "8"
"0000777773" "00001847" "70" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" "35"
"0000777774" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000777775" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000777776" "00001847" "90" "3988" "0" "3988" "0" "c.3988G>T" "r.(?)" "p.(Glu1330*)" "27"
"0000777777" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000777778" "00001847" "70" "4253" "43" "4253" "43" "c.4253+43G>A" "r.[=,4129_4253del]" "p.[=,Ile1377Hisfs*3]" "28i"
"0000777779" "00001847" "50" "2546" "0" "2546" "0" "c.2546T>C" "r.(?)" "p.(Val849Ala)" "16"
"0000777780" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000777781" "00001847" "70" "5929" "0" "5929" "0" "c.5929G>A" "r.(?)" "p.(Gly1977Ser)" "43"
"0000777782" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000777783" "00001847" "70" "5819" "0" "5819" "0" "c.5819T>C" "r.(?)" "p.(Leu1940Pro)" "41"
"0000777784" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000777785" "00001847" "90" "6415" "0" "6415" "0" "c.6415C>T" "r.(?)" "p.(Arg2139Trp)" "47"
"0000777786" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000777787" "00001847" "50" "6718" "0" "6718" "0" "c.6718A>G" "r.(?)" "p.(Thr2240Ala)" "48"
"0000777788" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000777789" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000777790" "00001847" "90" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973*)" "43"
"0000777791" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000777792" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000777793" "00001847" "90" "3259" "0" "3259" "0" "c.3259G>A" "r.(?)" "p.(Glu1087Lys)" "22"
"0000777794" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000777795" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000777796" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000777797" "00001847" "70" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" "44"
"0000777798" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000777799" "00001847" "90" "6316" "0" "6316" "0" "c.6316C>T" "r.(?)" "p.(Arg2106Cys)" "46"
"0000777800" "00001847" "70" "5044" "0" "5058" "0" "c.5044_5058del" "r.(?)" "p.(Val1682_Val1686del)" "36"
"0000777801" "00001847" "70" "6380" "0" "6380" "0" "c.6380C>T" "r.(?)" "p.(Ser2127Phe)" "46"
"0000777802" "00001847" "70" "3364" "0" "3364" "0" "c.3364G>A" "r.(?)" "p.(Glu1122Lys)" "23"
"0000777803" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000777804" "00001847" "70" "5819" "0" "5819" "0" "c.5819T>C" "r.(?)" "p.(Leu1940Pro)" "41"
"0000777805" "00001847" "70" "6216" "0" "6216" "0" "c.6216T>A" "r.(?)" "p.(Ser2072Arg)" "45"
"0000777806" "00001847" "70" "5929" "0" "5929" "0" "c.5929G>A" "r.(?)" "p.(Gly1977Ser)" "43"
"0000777807" "00001847" "70" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" "35"
"0000777808" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000777809" "00001847" "90" "4539" "2064" "4539" "2064" "c.4539+2064C>T" "r.[=,4539_4540ins4539+1891_4540-2162]" "p.[=,Arg1514Leufs*36]" "30i"
"0000777810" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000777811" "00001847" "70" "6272" "0" "6272" "0" "c.6272T>A" "r.(?)" "p.(Leu2091Gln)" "45"
"0000777812" "00001847" "70" "5644" "0" "5644" "0" "c.5644A>G" "r.(?)" "p.(Met1882Val)" "40"
"0000777813" "00001847" "90" "4353" "-1" "4353" "-1" "c.4353-1G>A" "r.(?)" "p.(?)" "29i"
"0000777814" "00001847" "50" "6718" "0" "6718" "0" "c.6718A>G" "r.(?)" "p.(Thr2240Ala)" "48"
"0000777815" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000777816" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000777817" "00001847" "70" "3050" "5" "3050" "5" "c.3050+5G>A" "r.2919_3050del" "p.(Leu973_His1017delinsPhe)" "20i"
"0000777818" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000777819" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000777820" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000777821" "00001847" "70" "6179" "0" "6179" "0" "c.6179T>G" "r.(?)" "p.(Leu2060Arg)" "45"
"0000777822" "00001847" "70" "4793" "0" "4793" "0" "c.4793C>A" "r.(?)" "p.(Ala1598Asp)" "34"
"0000777823" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000777824" "00001847" "90" "3988" "0" "3988" "0" "c.3988G>T" "r.(?)" "p.(Glu1330*)" "27"
"0000777825" "00001847" "70" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.[=,5196_5197ins5196+1140_5196+1212]" "p.[=,Met1733Glufs*78]" "36i"
"0000777826" "00001847" "90" "3943" "0" "3943" "0" "c.3943C>T" "r.(?)" "p.(Gln1315*)" "27"
"0000777827" "00001847" "50" "6718" "0" "6718" "0" "c.6718A>G" "r.(?)" "p.(Thr2240Ala)" "48"
"0000777828" "00001847" "90" "4539" "2064" "4539" "2064" "c.4539+2064C>T" "r.[=,4539_4540ins4539+1891_4540-2162]" "p.[=,Arg1514Leufs*36]" "30i"
"0000777829" "00001847" "70" "5819" "0" "5819" "0" "c.5819T>C" "r.(?)" "p.(Leu1940Pro)" "41"
"0000777830" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000777831" "00001847" "90" "2099" "0" "2099" "0" "c.2099G>A" "r.(?)" "p.(Trp700*)" "14"
"0000777832" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000777833" "00001847" "90" "2481" "0" "2481" "0" "c.2481del" "r.(?)" "p.(Thr829Argfs*14)" "16"
"0000777834" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000777835" "00001847" "70" "6410" "0" "6410" "0" "c.6410G>A" "r.(?)" "p.(Cys2137Tyr)" "47"
"0000777836" "00001847" "70" "5549" "0" "5549" "0" "c.5549T>C" "r.(?)" "p.(Leu1850Pro)" "39"
"0000777837" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000777838" "00001847" "90" "4539" "2064" "4539" "2064" "c.4539+2064C>T" "r.[=,4539_4540ins4539+1891_4540-2162]" "p.[=,Arg1514Leufs*36]" "30i"
"0000777839" "00001847" "70" "6179" "0" "6179" "0" "c.6179T>G" "r.(?)" "p.(Leu2060Arg)" "45"
"0000777840" "00001847" "70" "6071" "0" "6071" "0" "c.6071A>G" "r.(?)" "p.(Asp2024Gly)" "44"
"0000777841" "00001847" "70" "4457" "0" "4457" "0" "c.4457C>T" "r.(?)" "p.(Pro1486Leu)" "30"
"0000777842" "00001847" "90" "5196" "1" "5196" "1" "c.5196+1G>A" "r.spl" "p.?" "36i"
"0000777843" "00001847" "90" "5836" "-1" "5836" "-1" "c.5836-1G>C" "r.spl" "p.?" "41i"
"0000777844" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000777845" "00001847" "90" "4773" "1" "4773" "1" "c.4773+1del" "r.spl" "p.?" "33i"
"0000777846" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000777847" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000777848" "00001847" "90" "4539" "2064" "4539" "2064" "c.4539+2064C>T" "r.[=,4539_4540ins4539+1891_4540-2162]" "p.[=,Arg1514Leufs*36]" "30i"
"0000777849" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000777850" "00001847" "70" "5044" "0" "5058" "0" "c.5044_5058del" "r.(?)" "p.(Val1682_Val1686del)" "36"
"0000777851" "00001847" "90" "4539" "2064" "4539" "2064" "c.4539+2064C>T" "r.[=,4539_4540ins4539+1891_4540-2162]" "p.[=,Arg1514Leufs*36]" "30i"
"0000777852" "00001847" "70" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" "44"
"0000777853" "00001847" "70" "5929" "0" "5929" "0" "c.5929G>A" "r.(?)" "p.(Gly1977Ser)" "43"
"0000777854" "00001847" "70" "4253" "43" "4253" "43" "c.4253+43G>A" "r.[=,4129_4253del]" "p.[=,Ile1377Hisfs*3]" "28i"
"0000777855" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000777856" "00001847" "90" "3292" "0" "3292" "0" "c.3292C>T" "r.(?)" "p.(Arg1098Cys)" "22"
"0000777857" "00001847" "90" "4539" "2064" "4539" "2064" "c.4539+2064C>T" "r.[=,4539_4540ins4539+1891_4540-2162]" "p.[=,Arg1514Leufs*36]" "30i"
"0000777858" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000777859" "00001847" "90" "4539" "2064" "4539" "2064" "c.4539+2064C>T" "r.[=,4539_4540ins4539+1891_4540-2162]" "p.[=,Arg1514Leufs*36]" "30i"
"0000777860" "00001847" "50" "6718" "0" "6718" "0" "c.6718A>G" "r.(?)" "p.(Thr2240Ala)" "48"
"0000777861" "00001847" "70" "4253" "5" "4253" "5" "c.4253+5G>A" "r.4129_4253del" "p.(Ile1377Hisfs*3)" "28i"
"0000777862" "00001847" "70" "5644" "0" "5644" "0" "c.5644A>G" "r.(?)" "p.(Met1882Val)" "40"
"0000777863" "00001847" "70" "3277" "0" "3277" "0" "c.3277G>A" "r.(?)" "p.(Asp1093Asn)" "22"
"0000777864" "00001847" "50" "6718" "0" "6718" "0" "c.6718A>G" "r.(?)" "p.(Thr2240Ala)" "48"
"0000777865" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000777866" "00001847" "70" "4457" "0" "4457" "0" "c.4457C>T" "r.(?)" "p.(Pro1486Leu)" "30"
"0000777867" "00001847" "70" "5819" "0" "5819" "0" "c.5819T>C" "r.(?)" "p.(Leu1940Pro)" "41"
"0000777868" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000777869" "00001847" "50" "6718" "0" "6718" "0" "c.6718A>G" "r.(?)" "p.(Thr2240Ala)" "48"
"0000777870" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000777871" "00001847" "70" "5819" "0" "5819" "0" "c.5819T>C" "r.(?)" "p.(Leu1940Pro)" "41"
"0000777872" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000777873" "00001847" "90" "6559" "0" "6559" "0" "c.6559C>T" "r.(?)" "p.(Gln2187*)" "48"
"0000777874" "00001847" "70" "6410" "0" "6410" "0" "c.6410G>A" "r.(?)" "p.(Cys2137Tyr)" "47"
"0000777875" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000777876" "00001847" "70" "1667" "0" "1667" "0" "c.1667T>G" "r.(?)" "p.(Met556Arg)" "12"
"0000777877" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000777878" "00001847" "70" "4253" "4" "4253" "4" "c.4253+4C>T" "r.4129_4253del" "p.(Ile1377Hisfs*3)" "28i"
"0000777879" "00001847" "70" "5630" "0" "5644" "0" "c.5630_5644dup" "r.(?)" "p.(Lys1877_Ala1881dup)" "40"
"0000777880" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000777881" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000777882" "00001847" "90" "4436" "0" "4436" "0" "c.4436G>A" "r.(?)" "p.(Trp1479*)" "30"
"0000777883" "00001847" "70" "6437" "0" "6437" "0" "c.6437G>T" "r.(?)" "p.(Gly2146Val)" "47"
"0000777884" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000777885" "00001847" "70" "5318" "0" "5318" "0" "c.5318C>T" "r.(?)" "p.(Ala1773Val)" "38"
"0000777886" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000777887" "00001847" "70" "3251" "0" "3251" "0" "c.3251T>C" "r.(?)" "p.(Ile1084Thr)" "22"
"0000777888" "00001847" "70" "6449" "0" "6449" "0" "c.6449G>A" "r.(?)" "p.(Cys2150Tyr)" "47"
"0000777889" "00001847" "90" "4849" "0" "4849" "0" "c.4849del" "r.(?)" "p.(Val1617Cysfs*45)" "35"
"0000777890" "00001847" "70" "5549" "0" "5549" "0" "c.5549T>C" "r.(?)" "p.(Leu1850Pro)" "39"
"0000777891" "00001847" "70" "5318" "0" "5318" "0" "c.5318C>T" "r.(?)" "p.(Ala1773Val)" "38"
"0000777892" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000777893" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000777894" "00001847" "90" "5461" "-1" "5461" "-1" "c.5461-1G>T" "r.spl" "p.?" "38i"
"0000777895" "00001847" "50" "6718" "0" "6718" "0" "c.6718A>G" "r.(?)" "p.(Thr2240Ala)" "48"
"0000777896" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000777897" "00001847" "70" "5044" "0" "5058" "0" "c.5044_5058del" "r.(?)" "p.(Val1682_Val1686del)" "36"
"0000777898" "00001847" "70" "4457" "0" "4457" "0" "c.4457C>T" "r.(?)" "p.(Pro1486Leu)" "30"
"0000777899" "00001847" "90" "3943" "0" "3943" "0" "c.3943C>T" "r.(?)" "p.(Gln1315*)" "27"
"0000777900" "00001847" "90" "6329" "0" "6329" "0" "c.6329G>A" "r.(?)" "p.(Trp2110*)" "46"
"0000777901" "00001847" "70" "5819" "0" "5819" "0" "c.5819T>C" "r.(?)" "p.(Leu1940Pro)" "41"
"0000777902" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000777903" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000777904" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000777905" "00001847" "70" "5929" "0" "5929" "0" "c.5929G>A" "r.(?)" "p.(Gly1977Ser)" "43"
"0000777906" "00001847" "70" "4070" "0" "4070" "0" "c.4070C>T" "r.(?)" "p.(Ala1357Val)" "27"
"0000777907" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000777908" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000777909" "00001847" "70" "5899" "0" "5899" "0" "c.5899T>G" "r.(?)" "p.(Cys1967Gly)" "43"
"0000777910" "00001847" "50" "6718" "0" "6718" "0" "c.6718A>G" "r.(?)" "p.(Thr2240Ala)" "48"
"0000777911" "00001847" "70" "4253" "4" "4253" "4" "c.4253+4C>T" "r.4129_4253del" "p.(Ile1377Hisfs*3)" "28i"
"0000777912" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000777913" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000777914" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000777915" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000777916" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000777917" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000777918" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000777919" "00001847" "90" "2888" "0" "2888" "0" "c.2888del" "r.(?)" "p.(Gly963Alafs*14)" "19"
"0000777920" "00001847" "70" "5981" "0" "5981" "0" "c.5981G>A" "r.(?)" "p.(Gly1994Glu)" "43"
"0000777921" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000777922" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000777923" "00001847" "70" "5318" "0" "5318" "0" "c.5318C>T" "r.(?)" "p.(Ala1773Val)" "38"
"0000777924" "00001847" "70" "5531" "0" "5557" "0" "c.5531_5557dup" "r.(?)" "p.(Gly1844_Gln1852dup)" "39"
"0000777925" "00001847" "70" "4919" "0" "4919" "0" "c.4919G>A" "r.(?)" "p.(Arg1640Gln)" "35"
"0000777926" "00001847" "90" "4720" "0" "4720" "0" "c.4720G>T" "r.(?)" "p.(Glu1574*)" "33"
"0000777927" "00001847" "70" "5318" "0" "5318" "0" "c.5318C>T" "r.(?)" "p.(Ala1773Val)" "38"
"0000777928" "00001847" "90" "4537" "0" "4537" "0" "c.4537dup" "r.(?)" "p.(Gln1513Profs*42)" "30"
"0000777929" "00001847" "90" "6688" "0" "6688" "0" "c.6688del" "r.(?)" "p.(Leu2230Serfs*17)" "48"
"0000777930" "00001847" "70" "4793" "0" "4793" "0" "c.4793C>A" "r.(?)" "p.(Ala1598Asp)" "34"
"0000777931" "00001847" "70" "5044" "0" "5058" "0" "c.5044_5058del" "r.(?)" "p.(Val1682_Val1686del)" "36"
"0000777932" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000777933" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000777934" "00001847" "70" "4457" "0" "4457" "0" "c.4457C>T" "r.(?)" "p.(Pro1486Leu)" "30"
"0000777935" "00001847" "70" "4457" "0" "4457" "0" "c.4457C>T" "r.(?)" "p.(Pro1486Leu)" "30"
"0000777936" "00001847" "70" "4253" "5" "4253" "5" "c.4253+5G>A" "r.4129_4253del" "p.(Ile1377Hisfs*3)" "28i"
"0000777937" "00001847" "70" "5819" "0" "5819" "0" "c.5819T>C" "r.(?)" "p.(Leu1940Pro)" "41"
"0000777938" "00001847" "70" "6647" "0" "6647" "0" "c.6647C>T" "r.(?)" "p.(Ala2216Val)" "48"
"0000777939" "00001847" "70" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" "35"
"0000777940" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000777941" "00001847" "70" "4774" "-9" "4774" "-9" "c.4774-9G>A" "r.spl" "p.?" "33i"
"0000777942" "00001847" "70" "4849" "-8" "4849" "-8" "c.4849-8C>G" "r.spl" "p.?" "34i"
"0000777943" "00001847" "70" "1927" "0" "1927" "0" "c.1927G>A" "r.(?)" "p.(Val643Met)" "13"
"0000777944" "00001847" "10" "3602" "0" "3602" "0" "c.3602T>G" "r.(?)" "p.(Leu1201Arg)" "24"
"0000777945" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000777946" "00001847" "10" "2828" "0" "2828" "0" "c.2828G>A" "r.(?)" "p.(Arg943Gln)" "19"
"0000777947" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000777948" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.spl" "p.?" "17"
"0000777949" "00001847" "90" "1937" "1" "1937" "1" "c.1937+1G>A" "r.spl" "p.?" "13i"
"0000777950" "00001847" "70" "1510" "0" "1510" "0" "c.1510A>C" "r.(?)" "p.(Asn504His)" "11"
"0000777951" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000777952" "00001847" "70" "2897" "0" "2897" "0" "c.2897G>A" "r.(?)" "p.(Gly966Glu)" "19"
"0000777953" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000777954" "00001847" "70" "2549" "0" "2549" "0" "c.2549A>G" "r.(?)" "p.(Tyr850Cys)" "16"
"0000777955" "00001847" "50" "4283" "0" "4283" "0" "c.4283C>T" "r.(?)" "p.(Thr1428Met)" "29"
"0000777956" "00001847" "50" "101" "0" "106" "0" "c.101_106del" "r.(?)" "p.(Ser34_Leu35del)" "2"
"0000777957" "00001847" "90" "3292" "0" "3292" "0" "c.3292C>T" "r.(?)" "p.(Arg1098Cys)" "22"
"0000777958" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000777959" "00001847" "50" "1208" "0" "1208" "0" "c.1208A>T" "r.(?)" "p.(Asp403Val)" "9"
"0000777960" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000777961" "00001847" "90" "5196" "1" "5196" "1" "c.5196+1G>A" "r.spl" "p.?" "36i"
"0000777962" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000777963" "00001847" "70" "4363" "0" "4363" "0" "c.4363T>C" "r.(?)" "p.(Cys1455Arg)" "30"
"0000777964" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000777965" "00001847" "90" "1649" "0" "1649" "0" "c.1649del" "r.(?)" "p.(Gly550Glufs*18)" "12"
"0000777966" "00001847" "10" "3602" "0" "3602" "0" "c.3602T>G" "r.(?)" "p.(Leu1201Arg)" "24"
"0000777967" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000777968" "00001847" "90" "6658" "0" "6658" "0" "c.6658C>T" "r.(?)" "p.(Gln2220*)" "48"
"0000777969" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000777970" "00001847" "90" "1615" "0" "1615" "0" "c.1615del" "r.(?)" "p.(Leu539Serfs*29)" "12"
"0000777971" "00001847" "50" "2690" "0" "2690" "0" "c.2690C>T" "r.(?)" "p.(Thr897Ile)" "18"
"0000777972" "00001847" "70" "5642" "0" "5642" "0" "c.5642C>G" "r.(?)" "p.(Ala1881Gly)" "40"
"0000777973" "00001847" "70" "5311" "0" "5311" "0" "c.5311G>A" "r.(?)" "p.(Gly1771Arg)" "37"
"0000777974" "00001847" "90" "3898" "0" "3898" "0" "c.3898C>T" "r.(?)" "p.(Arg1300*)" "27"
"0000777975" "00001847" "70" "4253" "4" "4253" "4" "c.4253+4C>T" "r.4129_4253del" "p.(Ile1377Hisfs*3)" "28i"
"0000777976" "00001847" "90" "1643" "0" "1643" "0" "c.1643G>A" "r.(?)" "p.(Trp548*)" "12"
"0000777977" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000777978" "00001847" "90" "6658" "0" "6658" "0" "c.6658C>T" "r.(?)" "p.(Gln2220*)" "48"
"0000777979" "00001847" "90" "454" "0" "454" "0" "c.454C>T" "r.(?)" "p.(Arg152*)" "5"
"0000777980" "00001847" "70" "161" "0" "161" "0" "c.161G>A" "r.[161_302del,161g>a]" "p.[Cys54Serfs*14,Cys54Tyr]" "3"
"0000777981" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000777982" "00001847" "70" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" "44"
"0000777983" "00001847" "50" "1140" "0" "1140" "0" "c.1140T>A" "r.(?)" "p.(Asn380Lys)" "9"
"0000777984" "00001847" "90" "5018" "2" "5018" "2" "c.5018+2T>C" "r.spl" "p.?" "35i"
"0000777985" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000777986" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000777987" "00001847" "90" "1873" "0" "1873" "0" "c.1873C>T" "r.(?)" "p.(Gln625*)" "13"
"0000777988" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000777989" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000777990" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000777991" "00001847" "70" "2566" "0" "2566" "0" "c.2566T>A" "r.(?)" "p.(Tyr856Asn)" "16"
"0000777992" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000777993" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000777994" "00001847" "90" "2160" "1" "2160" "1" "c.2160+1G>T" "r.spl" "p.?" "14i"
"0000777995" "00001847" "50" "2401" "0" "2401" "0" "c.2401G>A" "r.(?)" "p.(Ala801Thr)" "16"
"0000777996" "00001847" "90" "2041" "0" "2041" "0" "c.2041C>T" "r.(?)" "p.(Arg681*)" "14"
"0000777997" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000777998" "00001847" "70" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" "44"
"0000777999" "00001847" "90" "4539" "2064" "4539" "2064" "c.4539+2064C>T" "r.[=,4539_4540ins4539+1891_4540-2162]" "p.[=,Arg1514Leufs*36]" "30i"
"0000778000" "00001847" "90" "2041" "0" "2041" "0" "c.2041C>T" "r.(?)" "p.(Arg681*)" "14"
"0000778001" "00001847" "70" "1757" "0" "1757" "0" "c.1757A>G" "r.(?)" "p.(Asp586Gly)" "12"
"0000778002" "00001847" "90" "1906" "0" "1906" "0" "c.1906C>T" "r.(?)" "p.(Gln636*)" "13"
"0000778003" "00001847" "90" "1557" "0" "1557" "0" "c.1557C>A" "r.(?)" "p.(Cys519*)" "12"
"0000778004" "00001847" "70" "3299" "0" "3299" "0" "c.3299T>A" "r.(?)" "p.(Ile1100Asn)" "22"
"0000778005" "00001847" "90" "712" "0" "712" "0" "c.712C>T" "r.(?)" "p.(Gln238*)" "6"
"0000778006" "00001847" "90" "3259" "0" "3259" "0" "c.3259G>T" "r.(?)" "p.(Glu1087*)" "22"
"0000778007" "00001847" "70" "5381" "0" "5381" "0" "c.5381C>A" "r.(?)" "p.(Ala1794Asp)" "38"
"0000778008" "00001847" "70" "4253" "5" "4253" "5" "c.4253+5G>A" "r.4129_4253del" "p.(Ile1377Hisfs*3)" "28i"
"0000778009" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000778010" "00001847" "50" "2560" "0" "2560" "0" "c.2560G>A" "r.(?)" "p.(Ala854Thr)" "16"
"0000778011" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000778012" "00001847" "50" "2560" "0" "2560" "0" "c.2560G>A" "r.(?)" "p.(Ala854Thr)" "16"
"0000778013" "00001847" "50" "4771" "0" "4771" "0" "c.4771G>A" "r.(?)" "p.(Gly1591Arg)" "33"
"0000778014" "00001847" "50" "4685" "0" "4685" "0" "c.4685T>C" "r.(?)" "p.(Ile1562Thr)" "33"
"0000778015" "00001847" "90" "4537" "0" "4537" "0" "c.4537dup" "r.(?)" "p.(Gln1513Profs*42)" "30"
"0000778016" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000778017" "00001847" "90" "1938" "-1" "1938" "-1" "c.1938-1G>A" "r.spl" "p.?" "13i"
"0000778018" "00001847" "70" "223" "0" "223" "0" "c.223T>G" "r.(?)" "p.(Cys75Gly)" "3"
"0000778019" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000778020" "00001847" "70" "1018" "0" "1018" "0" "c.1018T>C" "r.(?)" "p.(Tyr340His)" "8"
"0000778021" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.[(768g>u;768_769ins768+1_768+35)]" "p.(Leu257Valfs*17)" "6"
"0000778022" "00001847" "90" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071Cysfs*14)" "22"
"0000778023" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000778024" "00001847" "70" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" "31"
"0000778025" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000778026" "00001847" "70" "4253" "5" "4253" "5" "c.4253+5G>T" "r.[4129_4253del,=]" "p.[Ile1377Hisfs*3,=]" "28i"
"0000778027" "00001847" "70" "4319" "0" "4319" "0" "c.4319T>C" "r.(?)" "p.(Phe1440Ser)" "29"
"0000778028" "00001847" "90" "4129" "-1" "4129" "-1" "c.4129-1G>A" "r.spl" "p.?" "27i"
"0000778029" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000778030" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000778031" "00001847" "90" "4537" "0" "4537" "0" "c.4537del" "r.(?)" "p.(Gln1513Argfs*13)" "30"
"0000778032" "00001847" "50" "2918" "1060" "2918" "1060" "c.2918+1060G>T" "r.(?)" "p.(?)" "19"
"0000778033" "00001847" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.(?)" "23i_50_"
"0000778034" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000778035" "00001847" "10" "3899" "0" "3899" "0" "c.3899G>A" "r.(?)" "p.(Arg1300Gln)" "27"
"0000778036" "00001847" "90" "2971" "0" "2971" "0" "c.2971G>C" "r.(?)" "p.(Gly991Arg)" "20"
"0000778037" "00001847" "50" "1335" "0" "1335" "0" "c.1335C>G" "r.(?)" "p.(Ser445Arg)" "10"
"0000778038" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000778039" "00001847" "70" "4363" "0" "4363" "0" "c.4363T>C" "r.(?)" "p.(Cys1455Arg)" "30"
"0000778040" "00001847" "50" "466" "0" "466" "0" "c.466A>G" "r.(?)" "p.(Ile156Val)" "5"
"0000778041" "00001847" "50" "2023" "0" "2023" "0" "c.2023G>A" "r.(?)" "p.(Val675Ile)" "14"
"0000778042" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000778043" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000778044" "00001847" "90" "1557" "0" "1557" "0" "c.1557C>A" "r.(?)" "p.(Cys519*)" "12"
"0000778045" "00001847" "90" "1819" "0" "1819" "0" "c.1819G>A" "r.(?)" "p.(Gly607Arg)" "13"
"0000778046" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000778047" "00001847" "70" "1609" "0" "1609" "0" "c.1609C>T" "r.(?)" "p.(Arg537Cys)" "12"
"0000778048" "00001847" "70" "926" "0" "926" "0" "c.926C>G" "r.(?)" "p.(Pro309Arg)" "8"
"0000778049" "00001847" "90" "6088" "0" "6088" "0" "c.6088C>T" "r.(?)" "p.(Arg2030*)" "44"
"0000778050" "00001847" "50" "1532" "0" "1532" "0" "c.1532G>A" "r.(?)" "p.(Arg511His)" "11"
"0000778051" "00001847" "50" "658" "0" "658" "0" "c.658C>T" "r.(?)" "p.(Arg220Cys)" "6"
"0000778052" "00001847" "90" "1375" "0" "1375" "0" "c.1375del" "r.(?)" "p.(Thr459Glnfs*2)" "11"
"0000778053" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.[(768g>u;768_769ins768+1_768+35)]" "p.(Leu257Valfs*17)" "6"
"0000778054" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.[(768g>u;768_769ins768+1_768+35)]" "p.(Leu257Valfs*17)" "6"
"0000778055" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000778056" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000778057" "00001847" "70" "2300" "0" "2300" "0" "c.2300T>A" "r.(?)" "p.(Val767Asp)" "15"
"0000778058" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000778059" "00001847" "70" "2300" "0" "2300" "0" "c.2300T>A" "r.(?)" "p.(Val767Asp)" "15"
"0000778060" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000778061" "00001847" "70" "2549" "0" "2549" "0" "c.2549A>G" "r.(?)" "p.(Tyr850Cys)" "16"
"0000778062" "00001847" "70" "4539" "2001" "4539" "2001" "c.4539+2001G>A" "r.[=,4539_4540ins4539+1891_4540-2162]" "p.[=,Arg1514Leufs*36]" "30i"
"0000778063" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000778064" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000778065" "00001847" "90" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973*)" "43"
"0000778066" "00001847" "70" "4539" "2001" "4539" "2001" "c.4539+2001G>A" "r.[=,4539_4540ins4539+1891_4540-2162]" "p.[=,Arg1514Leufs*36]" "30i"
"0000778067" "00001847" "70" "4539" "2001" "4539" "2001" "c.4539+2001G>A" "r.[=,4539_4540ins4539+1891_4540-2162]" "p.[=,Arg1514Leufs*36]" "30i"
"0000778068" "00001847" "70" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.[=,5196_5197ins5196+1140_5196+1212]" "p.[=,Met1733Glufs*78]" "36i"
"0000778069" "00001847" "90" "4537" "0" "4537" "0" "c.4537dup" "r.(?)" "p.(Gln1513Profs*42)" "30"
"0000778070" "00001847" "70" "740" "0" "740" "0" "c.740A>T" "r.(?)" "p.(Asn247Ile)" "6"
"0000778071" "00001847" "90" "1496" "0" "1496" "0" "c.1496G>A" "r.(?)" "p.(Trp499*)" "11"
"0000778072" "00001847" "50" "164" "0" "164" "0" "c.164A>G" "r.(?)" "p.(His55Arg)" "3"
"0000778073" "00001847" "90" "2879" "0" "2879" "0" "c.2879del" "r.(?)" "p.(Ala960Aspfs*17)" "19"
"0000778074" "00001847" "70" "4594" "0" "4594" "0" "c.4594G>A" "r.(?)" "p.(Asp1532Asn)" "31"
"0000778075" "00001847" "90" "4666" "0" "4666" "0" "c.4666del" "r.(?)" "p.(Arg1556Glyfs*25)" "32"
"0000778076" "00001847" "90" "3984" "0" "3987" "0" "c.3984_3987del" "r.(?)" "p.(His1328Glnfs*60)" "27"
"0000778077" "00001847" "50" "4034" "0" "4034" "0" "c.4034A>G" "r.(?)" "p.(Asn1345Ser)" "27"
"0000778078" "00001847" "50" "317" "0" "317" "0" "c.317A>T" "r.(?)" "p.(Tyr106Phe)" "4"
"0000778079" "00001847" "70" "5367" "0" "5367" "0" "c.5367C>G" "r.(?)" "p.(Ser1789Arg)" "38"
"0000778080" "00001847" "90" "6592" "0" "6592" "0" "c.6592C>T" "r.(?)" "p.(Gln2198*)" "48"
"0000778081" "00001847" "50" "101" "0" "106" "0" "c.101_106del" "r.(?)" "p.(Ser34_Leu35del)" "2"
"0000778082" "00001847" "70" "2954" "0" "2954" "0" "c.2954G>T" "r.(?)" "p.(Gly985Val)" "20"
"0000778083" "00001847" "70" "740" "0" "740" "0" "c.740A>T" "r.(?)" "p.(Asn247Ile)" "6"
"0000778084" "00001847" "50" "2965" "0" "2965" "0" "c.2965G>A" "r.(?)" "p.(Val989Ile)" "20"
"0000778085" "00001847" "90" "6688" "0" "6688" "0" "c.6688del" "r.(?)" "p.(Leu2230Serfs*17)" "48"
"0000778086" "00001847" "90" "6688" "0" "6688" "0" "c.6688del" "r.(?)" "p.(Leu2230Serfs*17)" "48"
"0000778087" "00001847" "90" "1035" "0" "1035" "0" "c.1035T>G" "r.(?)" "p.(Tyr345*)" "8"
"0000778088" "00001847" "90" "1561" "0" "1561" "0" "c.1561del" "r.(?)" "p.(Val521Serfs*47)" "12"
"0000778089" "00001847" "50" "3352" "0" "3352" "0" "c.3352C>T" "r.(?)" "p.(His1118Tyr)" "23"
"0000778090" "00001847" "90" "5196" "1" "5196" "1" "c.5196+1G>A" "r.spl" "p.?" "36i"
"0000778091" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000778092" "00001847" "90" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973*)" "43"
"0000778093" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000778094" "00001847" "70" "4670" "0" "4670" "0" "c.4670A>G" "r.(?)" "p.(Tyr1557Cys)" "33"
"0000778095" "00001847" "70" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" "31"
"0000778096" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000778097" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000778098" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000778099" "00001847" "90" "454" "0" "454" "0" "c.454C>T" "r.(?)" "p.(Arg152*)" "5"
"0000778100" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000778101" "00001847" "70" "3380" "0" "3380" "0" "c.3380G>A" "r.(?)" "p.(Gly1127Glu)" "23"
"0000778102" "00001847" "70" "6229" "0" "6229" "0" "c.6229C>T" "r.(?)" "p.(Arg2077Trp)" "45"
"0000778103" "00001847" "50" "4539" "2066" "4539" "2066" "c.4539+2066C>G" "r.(?)" "p.(?)" "30i"
"0000778104" "00001847" "90" "3767" "0" "3768" "0" "c.3767_3768dup" "r.(?)" "p.(Leu1257Thrfs*19)" "25"
"0000778105" "00001847" "50" "4243" "0" "4243" "0" "c.4243A>C" "r.(?)" "p.(Thr1415Pro)" "28"
"0000778106" "00001847" "90" "6386" "1" "6386" "1" "c.6386+1G>A" "r.spl" "p.?" "46i"
"0000778107" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000778108" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000778109" "00001847" "70" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.[=,5196_5197ins5196+1140_5196+1212]" "p.[=,Met1733Glufs*78]" "36i"
"0000778110" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000778111" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000778112" "00001847" "70" "5584" "6" "5584" "6" "c.5584+6T>C" "r.[5461_5714del,5461_5584del,5585_5714]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13,Glu1863Leufs*33]" "39i"
"0000778113" "00001847" "70" "6478" "0" "6478" "0" "c.6478A>G" "r.[6478a>g,6387_6479del]" "p.[Lys2160Glu,Ser2129_Lys2160delinsArg]" "47"
"0000778114" "00001847" "70" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.[=,5196_5197ins5196+1140_5196+1212]" "p.[=,Met1733Glufs*78]" "36i"
"0000778115" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000778116" "00001847" "70" "6098" "0" "6098" "0" "c.6098T>G" "r.(?)" "p.(Leu2033Arg)" "44"
"0000778117" "00001847" "70" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.[=,5196_5197ins5196+1140_5196+1212]" "p.[=,Met1733Glufs*78]" "36i"
"0000778118" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000778119" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000778120" "00001847" "90" "0" "0" "0" "0" "c.(6817-1_6818+1)_*400{0}" "r.?" "p.?" "49i_50_"
"0000778121" "00001847" "50" "4685" "0" "4685" "0" "c.4685T>C" "r.(?)" "p.(Ile1562Thr)" "33"
"0000778122" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000778123" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000778124" "00001847" "70" "4222" "0" "4222" "0" "c.4222T>C" "r.(?)" "p.(Trp1408Arg)" "28"
"0000778125" "00001847" "90" "885" "0" "885" "0" "c.885del" "r.(?)" "p.(Leu296Cysfs*4)" "8"
"0000778126" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.[(768g>u;768_769ins768+1_768+35)]" "p.(Leu257Valfs*17)" "6"
"0000778127" "00001847" "70" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.[=,5196_5197ins5196+1140_5196+1212]" "p.[=,Met1733Glufs*78]" "36i"
"0000778128" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000778129" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000778130" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000778131" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.[(768g>u;768_769ins768+1_768+35)]" "p.(Leu257Valfs*17)" "6"
"0000778132" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000778133" "00001847" "70" "4069" "0" "4069" "0" "c.4069G>A" "r.(?)" "p.(Ala1357Thr)" "27"
"0000778134" "00001847" "50" "3522" "6" "3522" "6" "c.3522+6T>C" "r.(?)" "p.(?)" "23i"
"0000778135" "00001847" "70" "4773" "3" "4773" "3" "c.4773+3A>G" "r.[4668_4773del,=]" "p.[Tyr1557Alafs*18,=]" "33i"
"0000778136" "00001847" "50" "1240" "-8" "1240" "-8" "c.1240-8G>A" "r.(?)" "p.(?)" "9i"
"0000778137" "00001847" "90" "2616" "0" "2616" "0" "c.2616C>G" "r.(?)" "p.(Tyr872*)" "17"
"0000778138" "00001847" "70" "3106" "0" "3106" "0" "c.3106G>A" "r.(?)" "p.(Glu1036Lys)" "21"
"0000778139" "00001847" "90" "5201" "0" "5201" "0" "c.5201del" "r.(?)" "p.(Asn1734Ilefs*4)" "37"
"0000778140" "00001847" "90" "1562" "0" "1562" "0" "c.1562del" "r.(?)" "p.(Val521Alafs*47)" "12"
"0000778141" "00001847" "70" "3385" "0" "3385" "0" "c.3385C>T" "r.(?)" "p.(Arg1129Cys)" "23"
"0000778142" "00001847" "70" "4217" "0" "4217" "0" "c.4217A>G" "r.(?)" "p.(His1406Arg)" "28"
"0000778143" "00001847" "90" "1562" "0" "1562" "0" "c.1562del" "r.(?)" "p.(Val521Alafs*47)" "12"
"0000778144" "00001847" "70" "983" "0" "983" "0" "c.983A>T" "r.(?)" "p.(Glu328Val)" "8"
"0000778145" "00001847" "70" "3106" "0" "3106" "0" "c.3106G>A" "r.(?)" "p.(Glu1036Lys)" "21"
"0000778146" "00001847" "70" "179" "0" "179" "0" "c.179C>T" "r.(?)" "p.(Ala60Val)" "3"
"0000778147" "00001847" "70" "3106" "0" "3106" "0" "c.3106G>A" "r.(?)" "p.(Glu1036Lys)" "21"
"0000778148" "00001847" "70" "983" "0" "983" "0" "c.983A>T" "r.(?)" "p.(Glu328Val)" "8"
"0000778149" "00001847" "90" "6633" "0" "6634" "0" "c.6633_6634insCTCCTCCTCCCTGGCGAGGATCTTCCAG" "r.(?)" "p.(Ser2212Leufs*48)" "48"
"0000778150" "00001847" "90" "570" "1" "570" "1" "c.570+1G>A" "r.spl" "p.?" "5i"
"0000778151" "00001847" "70" "224" "0" "224" "0" "c.224G>A" "r.(?)" "p.(Cys75Tyr)" "3"
"0000778152" "00001847" "70" "1293" "0" "1293" "0" "c.1293G>C" "r.(?)" "p.(Trp431Cys)" "10"
"0000778153" "00001847" "90" "4773" "1" "4773" "1" "c.4773+1G>T" "r.spl" "p.?" "33i"
"0000778154" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000778155" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000778156" "00001847" "70" "4217" "0" "4217" "0" "c.4217A>G" "r.(?)" "p.(His1406Arg)" "28"
"0000778157" "00001847" "90" "1561" "0" "1561" "0" "c.1561del" "r.(?)" "p.(Val521Serfs*47)" "12"
"0000778158" "00001847" "70" "4069" "0" "4069" "0" "c.4069G>A" "r.(?)" "p.(Ala1357Thr)" "27"
"0000778159" "00001847" "70" "4610" "0" "4610" "0" "c.4610C>T" "r.(?)" "p.(Thr1537Met)" "31"
"0000778160" "00001847" "90" "4537" "0" "4537" "0" "c.4537dup" "r.(?)" "p.(Gln1513Profs*42)" "30"
"0000778161" "00001847" "90" "3988" "0" "3988" "0" "c.3988G>T" "r.(?)" "p.(Glu1330*)" "27"
"0000778162" "00001847" "90" "3988" "0" "3988" "0" "c.3988G>T" "r.(?)" "p.(Glu1330*)" "27"
"0000778163" "00001847" "70" "4253" "5" "4253" "5" "c.4253+5G>A" "r.4129_4253del" "p.(Ile1377Hisfs*3)" "28i"
"0000778164" "00001847" "90" "2041" "0" "2041" "0" "c.2041C>T" "r.(?)" "p.(Arg681*)" "14"
"0000778165" "00001847" "70" "4457" "0" "4457" "0" "c.4457C>T" "r.(?)" "p.(Pro1486Leu)" "30"
"0000778166" "00001847" "70" "3311" "0" "3311" "0" "c.3311T>C" "r.(?)" "p.(Leu1104Pro)" "22"
"0000778167" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000778168" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000778169" "00001847" "70" "3347" "0" "3347" "0" "c.3347C>T" "r.(?)" "p.(Ser1116Phe)" "23"
"0000778170" "00001847" "90" "5714" "1" "5714" "1" "c.5714+1G>A" "r.spl" "p.?" "40i"
"0000778171" "00001847" "70" "4253" "4" "4253" "4" "c.4253+4C>T" "r.4129_4253del" "p.(Ile1377Hisfs*3)" "28i"
"0000778172" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000778173" "00001847" "90" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973*)" "43"
"0000778174" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000778175" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000778176" "00001847" "90" "2041" "0" "2041" "0" "c.2041C>T" "r.(?)" "p.(Arg681*)" "14"
"0000778177" "00001847" "70" "182" "0" "182" "0" "c.182T>C" "r.(?)" "p.(Met61Thr)" "3"
"0000778178" "00001847" "70" "5318" "0" "5318" "0" "c.5318C>T" "r.(?)" "p.(Ala1773Val)" "38"
"0000778179" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000778180" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000778181" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000778182" "00001847" "70" "3194" "0" "3194" "0" "c.3194G>A" "r.(?)" "p.(Gly1065Asp)" "22"
"0000778183" "00001847" "50" "5761" "0" "5761" "0" "c.5761G>A" "r.(?)" "p.(Val1921Met)" "41"
"0000778184" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000778185" "00001847" "70" "5777" "0" "5777" "0" "c.5777A>C" "r.(?)" "p.(Gln1926Pro)" "41"
"0000778186" "00001847" "70" "6229" "0" "6229" "0" "c.6229C>T" "r.(?)" "p.(Arg2077Trp)" "45"
"0000778187" "00001847" "90" "3583" "0" "3584" "0" "c.3583_3584insGT" "r.(?)" "p.(Leu1195Argfs*2)" "24"
"0000778188" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000778189" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000778190" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000778191" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000778192" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000778193" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000778194" "00001847" "50" "2588" "-7" "2588" "-5" "c.2588-7_2588-5delinsGG" "r.(?)" "p.(?)" "16i"
"0000778195" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000778196" "00001847" "50" "4195" "0" "4195" "0" "c.4195G>A" "r.(?)" "p.(Glu1399Lys)" "28"
"0000778197" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.[(768g>u;768_769ins768+1_768+35)]" "p.(Leu257Valfs*17)" "6"
"0000778198" "00001847" "70" "5318" "0" "5318" "0" "c.5318C>T" "r.(?)" "p.(Ala1773Val)" "38"
"0000778199" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000778200" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000778201" "00001847" "90" "1903" "0" "1903" "0" "c.1903C>T" "r.(?)" "p.(Gln635*)" "13"
"0000778202" "00001847" "90" "4234" "0" "4234" "0" "c.4234C>T" "r.(?)" "p.(Gln1412*)" "28"
"0000778203" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000778204" "00001847" "90" "639" "0" "639" "0" "c.639del" "r.(?)" "p.(Phe213Leufs*28)" "6"
"0000778205" "00001847" "90" "2069" "0" "2069" "0" "c.2069del" "r.(?)" "p.(Gly690Valfs*6)" "14"
"0000778206" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000778207" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000778208" "00001847" "50" "6119" "0" "6119" "0" "c.6119G>A" "r.(?)" "p.(Arg2040Gln)" "44"
"0000778209" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000778210" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000778211" "00001847" "90" "1937" "1" "1937" "1" "c.1937+1G>A" "r.spl" "p.?" "13i"
"0000778212" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000778213" "00001847" "90" "4234" "0" "4234" "0" "c.4234C>T" "r.(?)" "p.(Gln1412*)" "28"
"0000778214" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000778215" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000778216" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000778217" "00001847" "70" "4919" "0" "4919" "0" "c.4919G>A" "r.(?)" "p.(Arg1640Gln)" "35"
"0000778218" "00001847" "90" "3871" "0" "3871" "0" "c.3871C>T" "r.(?)" "p.(Gln1291*)" "27"
"0000778219" "00001847" "50" "4269" "0" "4269" "0" "c.4269C>T" "r.(?)" "p.(Gly1423=)" "29"
"0000778220" "00001847" "90" "3261" "0" "3261" "0" "c.3261A>C" "r.(?)" "p.(Glu1087Asp)" "22"
"0000778221" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000778222" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.[(768g>u;768_769ins768+1_768+35)]" "p.(Leu257Valfs*17)" "6"
"0000778223" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000778224" "00001847" "70" "4919" "0" "4919" "0" "c.4919G>A" "r.(?)" "p.(Arg1640Gln)" "35"
"0000778225" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000778226" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000778227" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000778228" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000778229" "00001847" "70" "5318" "0" "5318" "0" "c.5318C>T" "r.(?)" "p.(Ala1773Val)" "38"
"0000778230" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000778231" "00001847" "70" "3642" "0" "3644" "0" "c.3642_3644del" "r.(?)" "p.(His1215del)" "25"
"0000778232" "00001847" "90" "1025" "0" "1038" "0" "c.1025_1038del" "r.(?)" "p.(Asp342Glyfs*6)" "8"
"0000778233" "00001847" "50" "764" "0" "764" "0" "c.764G>A" "r.(?)" "p.(Arg255His)" "6"
"0000778234" "00001847" "70" "2948" "0" "2948" "0" "c.2948C>T" "r.(?)" "p.(Thr983Ile)" "20"
"0000778235" "00001847" "70" "214" "0" "214" "0" "c.214G>A" "r.(?)" "p.(Gly72Arg)" "3"
"0000778236" "00001847" "70" "4610" "0" "4610" "0" "c.4610C>T" "r.(?)" "p.(Thr1537Met)" "31"
"0000778237" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000778238" "00001847" "10" "3602" "0" "3602" "0" "c.3602T>G" "r.(?)" "p.(Leu1201Arg)" "24"
"0000778239" "00001847" "90" "6238" "0" "6239" "0" "c.6238_6239del" "r.(?)" "p.(Ser2080Hisfs*16)" "45"
"0000778240" "00001847" "90" "2588" "-161" "2615" "0" "c.2588-161_2615del" "r.(?)" "p.(?)" "16i_17"
"0000778241" "00001847" "70" "4538" "0" "4538" "0" "c.4538A>G" "r.[4539_4540ins4540+1_4530+30,4467_4539del]" "p.(Arg1513_Arg1514ins10,Cys1490Glufs*12)" "30"
"0000778242" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000778243" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000778244" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000778245" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000778246" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000778247" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000778248" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000778249" "00001847" "70" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" "44"
"0000778250" "00001847" "70" "1912" "0" "1912" "0" "c.1912C>T" "r.(?)" "p.(Pro638Ser)" "13"
"0000778251" "00001847" "70" "6454" "0" "6454" "0" "c.6454G>T" "r.(?)" "p.(Gly2152Cys)" "47"
"0000778252" "00001847" "70" "3194" "0" "3194" "0" "c.3194G>A" "r.(?)" "p.(Gly1065Asp)" "22"
"0000778253" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000778254" "00001847" "70" "2294" "0" "2294" "0" "c.2294G>C" "r.(?)" "p.(Ser765Thr)" "15"
"0000778255" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000778256" "00001847" "70" "6449" "0" "6449" "0" "c.6449G>A" "r.(?)" "p.(Cys2150Tyr)" "47"
"0000778257" "00001847" "70" "5329" "0" "5329" "0" "c.5329A>T" "r.(?)" "p.(Met1777Leu)" "38"
"0000778258" "00001847" "70" "2870" "0" "2870" "0" "c.2870A>G" "r.(?)" "p.(Gln957Arg)" "19"
"0000778259" "00001847" "90" "1957" "0" "1957" "0" "c.1957C>T" "r.(?)" "p.(Arg653Cys)" "14"
"0000778260" "00001847" "70" "2948" "0" "2948" "0" "c.2948C>T" "r.(?)" "p.(Thr983Ile)" "20"
"0000778261" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000778262" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000778263" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000778264" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000778265" "00001847" "90" "1937" "1" "1937" "1" "c.1937+1G>A" "r.spl" "p.?" "13i"
"0000778266" "00001847" "70" "463" "0" "463" "0" "c.463G>A" "r.(?)" "p.(Asp155Asn)" "5"
"0000778267" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000778268" "00001847" "70" "3642" "0" "3644" "0" "c.3642_3644del" "r.(?)" "p.(His1215del)" "25"
"0000778269" "00001847" "70" "5198" "0" "5198" "0" "c.5198T>C" "r.(?)" "p.(Met1733Thr)" "37"
"0000778270" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000778271" "00001847" "90" "4786" "0" "4786" "0" "c.4786dup" "r.(?)" "p.(Arg1596Lysfs*5)" "34"
"0000778272" "00001847" "70" "5936" "0" "5936" "0" "c.5936C>T" "r.(?)" "p.(Thr1979Ile)" "43"
"0000778273" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000778274" "00001847" "90" "1903" "0" "1903" "0" "c.1903C>T" "r.(?)" "p.(Gln635*)" "13"
"0000778275" "00001847" "90" "4128" "0" "4128" "0" "c.4128G>C" "r.4128_4129ins4128+1_4128+12" "p.(Gln1376_Ile1377insValLeuLeuSer)" "27"
"0000778276" "00001847" "70" "2556" "0" "2556" "0" "c.2556del" "r.(?)" "p.(Leu852Phefs*49)" "16"
"0000778277" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000778278" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000778279" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000778280" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000778281" "00001847" "90" "4848" "1" "4848" "1" "c.4848+1G>T" "r.spl" "p.?" "34i"
"0000778282" "00001847" "70" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" "44"
"0000778283" "00001847" "70" "5311" "0" "5311" "0" "c.5311G>A" "r.(?)" "p.(Gly1771Arg)" "37"
"0000778284" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000778285" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000778286" "00001847" "70" "956" "0" "956" "0" "c.956T>G" "r.(?)" "p.(Leu319Arg)" "8"
"0000778287" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000778288" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000778289" "00001847" "70" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" "35"
"0000778290" "00001847" "70" "1034" "0" "1034" "0" "c.1034A>G" "r.(?)" "p.(Tyr345Cys)" "8"
"0000778291" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000778292" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000778293" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000778294" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000778295" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000778296" "00001847" "70" "4253" "43" "4253" "43" "c.4253+43G>A" "r.[=,4129_4253del]" "p.[=,Ile1377Hisfs*3]" "28i"
"0000778297" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000778298" "00001847" "90" "3292" "0" "3292" "0" "c.3292C>T" "r.(?)" "p.(Arg1098Cys)" "22"
"0000778299" "00001847" "90" "4653" "0" "4653" "0" "c.4653G>A" "r.(?)" "p.(Trp1551*)" "32"
"0000778300" "00001847" "90" "5520" "0" "5520" "0" "c.5520C>A" "r.(?)" "p.(Cys1840*)" "39"
"0000778301" "00001847" "90" "517" "0" "517" "0" "c.517dup" "r.(?)" "p.(Leu173Profs*3)" "5"
"0000778302" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000778303" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000778304" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000778305" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000778306" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000778307" "00001847" "70" "5584" "6" "5584" "6" "c.5584+6T>C" "r.[5461_5714del,5461_5584del,5585_5714]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13,Glu1863Leufs*33]" "39i"
"0000778308" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000778309" "00001847" "90" "4537" "0" "4537" "0" "c.4537dup" "r.(?)" "p.(Gln1513Profs*42)" "30"
"0000778310" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000778311" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000778312" "00001847" "70" "5537" "0" "5537" "0" "c.5537T>C" "r.(?)" "p.(Ile1846Thr)" "39"
"0000778313" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000778314" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000778315" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000778316" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000778317" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000778318" "00001847" "90" "3292" "0" "3292" "0" "c.3292C>T" "r.(?)" "p.(Arg1098Cys)" "22"
"0000778319" "00001847" "90" "4539" "2064" "4539" "2064" "c.4539+2064C>T" "r.[=,4539_4540ins4539+1891_4540-2162]" "p.[=,Arg1514Leufs*36]" "30i"
"0000778320" "00001847" "90" "6005" "1" "6005" "1" "c.6005+1G>T" "r.spl" "p.?" "43i"
"0000778321" "00001847" "50" "6148" "0" "6148" "0" "c.6148G>C" "r.=" "p.(Val2050Leu)" "45"
"0000778322" "00001847" "70" "5753" "0" "5753" "0" "c.5753A>T" "r.(?)" "p.(Asp1918Val)" "41"
"0000778323" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000778324" "00001847" "70" "5910" "0" "5912" "0" "c.5910_5912dup" "r.(?)" "p.(Leu1971dup)" "43"
"0000778325" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000778326" "00001847" "90" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973*)" "43"
"0000778327" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000778328" "00001847" "70" "3305" "0" "3305" "0" "c.3305A>T" "r.(?)" "p.(Asp1102Val)" "22"
"0000778329" "00001847" "90" "3261" "0" "3261" "0" "c.3261A>C" "r.(?)" "p.(Glu1087Asp)" "22"
"0000778330" "00001847" "70" "1822" "0" "1822" "0" "c.1822T>A" "r.(?)" "p.(Phe608Ile)" "13"
"0000778331" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000778332" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000778333" "00001847" "90" "2731" "0" "2732" "0" "c.2731_2732del" "r.(?)" "p.(Glu911Argfs*8)" "18"
"0000778334" "00001847" "90" "4234" "0" "4234" "0" "c.4234C>T" "r.(?)" "p.(Gln1412*)" "28"
"0000778335" "00001847" "70" "4463" "0" "4463" "0" "c.4463G>A" "r.(?)" "p.(Cys1488Tyr)" "30"
"0000778336" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000778337" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000778338" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000778339" "00001847" "70" "6229" "0" "6229" "0" "c.6229C>T" "r.(?)" "p.(Arg2077Trp)" "45"
"0000778340" "00001847" "90" "2626" "0" "2626" "0" "c.2626C>T" "r.(?)" "p.(Gln876*)" "17"
"0000778341" "00001847" "70" "2827" "0" "2827" "0" "c.2827C>T" "r.(?)" "p.(Arg943Trp)" "19"
"0000778342" "00001847" "70" "2870" "0" "2870" "0" "c.2870A>G" "r.(?)" "p.(Gln957Arg)" "19"
"0000778343" "00001847" "90" "6816" "2" "6816" "2" "c.6816+2T>A" "r.spl" "p.?" "49i"
"0000778344" "00001847" "90" "4540" "-2" "4540" "-2" "c.4540-2A>G" "r.spl" "p.?" "30i"
"0000778345" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000778346" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000778347" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000778348" "00001847" "90" "2005" "0" "2006" "0" "c.2005_2006del" "r.(?)" "p.(Met669Aspfs*96)" "14"
"0000778349" "00001847" "90" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973*)" "43"
"0000778350" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000778351" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000778352" "00001847" "50" "5338" "0" "5338" "0" "c.5338C>G" "r.(?)" "p.(Pro1780Ala)" "38"
"0000778353" "00001847" "70" "4598" "0" "4598" "0" "c.4598T>C" "r.(?)" "p.(Phe1533Ser)" "31"
"0000778354" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000778355" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000778356" "00001847" "70" "2291" "0" "2291" "0" "c.2291G>A" "r.(?)" "p.(Cys764Tyr)" "15"
"0000778357" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000778358" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000778359" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000778360" "00001847" "70" "5527" "0" "5527" "0" "c.5527C>T" "r.(?)" "p.(Arg1843Trp)" "39"
"0000778361" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000778362" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000778363" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000778364" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000778365" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000778366" "00001847" "70" "6077" "0" "6077" "0" "c.6077T>C" "r.(?)" "p.(Leu2026Pro)" "44"
"0000778367" "00001847" "50" "4685" "0" "4685" "0" "c.4685T>C" "r.(?)" "p.(Ile1562Thr)" "33"
"0000778368" "00001847" "90" "1957" "0" "1957" "0" "c.1957C>T" "r.(?)" "p.(Arg653Cys)" "14"
"0000778369" "00001847" "70" "3482" "0" "3482" "0" "c.3482G>A" "r.(?)" "p.(Arg1161His)" "23"
"0000778370" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000778371" "00001847" "70" "5774" "0" "5774" "0" "c.5774G>T" "r.(?)" "p.(Arg1925Ile)" "41"
"0000778372" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000778373" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.[(768g>u;768_769ins768+1_768+35)]" "p.(Leu257Valfs*17)" "6"
"0000778374" "00001847" "90" "3050" "1" "3050" "1" "c.3050+1G>A" "r.(?)" "p.(?)" "20i"
"0000778375" "00001847" "70" "5584" "6" "5584" "6" "c.5584+6T>C" "r.[5461_5714del,5461_5584del,5585_5714]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13,Glu1863Leufs*33]" "39i"
"0000778376" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000778377" "00001847" "90" "4539" "2064" "4539" "2064" "c.4539+2064C>T" "r.[=,4539_4540ins4539+1891_4540-2162]" "p.[=,Arg1514Leufs*36]" "30i"
"0000778378" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000778379" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000778380" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000778381" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000778382" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000778383" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000778384" "00001847" "70" "5606" "0" "5606" "0" "c.5606C>T" "r.(?)" "p.(Pro1869Leu)" "40"
"0000778385" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000778386" "00001847" "90" "6415" "0" "6415" "0" "c.6415C>T" "r.(?)" "p.(Arg2139Trp)" "47"
"0000778387" "00001847" "90" "1561" "0" "1561" "0" "c.1561del" "r.(?)" "p.(Val521Serfs*47)" "12"
"0000778388" "00001847" "50" "101" "0" "106" "0" "c.101_106del" "r.(?)" "p.(Ser34_Leu35del)" "2"
"0000778389" "00001847" "70" "3262" "0" "3262" "0" "c.3262C>A" "r.(?)" "p.(Pro1088Thr)" "22"
"0000778390" "00001847" "70" "1019" "0" "1019" "0" "c.1019A>G" "r.(?)" "p.(Tyr340Cys)" "8"
"0000778391" "00001847" "90" "1761" "-2" "1761" "-2" "c.1761-2A>G" "r.spl" "p.?" "13"
"0000778392" "00001847" "90" "2063" "0" "2063" "0" "c.2063dup" "r.(?)" "p.(Asn688Lysfs*78)" "14"
"0000778393" "00001847" "90" "3051" "-1" "3051" "-1" "c.3051-1G>A" "r.spl" "p.?" "20i"
"0000778394" "00001847" "70" "5327" "0" "5327" "0" "c.5327C>T" "r.(?)" "p.(Pro1776Leu)" "38"
"0000778395" "00001847" "70" "428" "0" "428" "0" "c.428C>T" "r.(?)" "p.(Pro143Leu)" "4"
"0000778396" "00001847" "70" "1229" "0" "1229" "0" "c.1229T>C" "r.(?)" "p.(Ile410Thr)" "9"
"0000778397" "00001847" "70" "3017" "0" "3017" "0" "c.3017G>A" "r.(?)" "p.(Gly1006Asp)" "20"
"0000778398" "00001847" "50" "101" "0" "106" "0" "c.101_106del" "r.(?)" "p.(Ser34_Leu35del)" "2"
"0000778399" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000778400" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000778401" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000778402" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000778403" "00001847" "50" "2617" "0" "2617" "0" "c.2617T>C" "r.(?)" "p.(Phe873Leu)" "17"
"0000778404" "00001847" "70" "1531" "0" "1531" "0" "c.1531C>T" "r.(?)" "p.(Arg511Cys)" "11"
"0000778405" "00001847" "70" "872" "0" "872" "0" "c.872C>T" "r.(?)" "p.(Pro291Leu)" "8"
"0000778406" "00001847" "70" "5216" "0" "5218" "0" "c.5216_5218dup" "r.(?)" "p.(Ala1739dup)" "37"
"0000778407" "00001847" "70" "1531" "0" "1531" "0" "c.1531C>T" "r.(?)" "p.(Arg511Cys)" "11"
"0000778408" "00001847" "70" "872" "0" "872" "0" "c.872C>T" "r.(?)" "p.(Pro291Leu)" "8"
"0000778409" "00001847" "70" "5216" "0" "5218" "0" "c.5216_5218dup" "r.(?)" "p.(Ala1739dup)" "37"
"0000778410" "00001847" "50" "4739" "0" "4739" "0" "c.4739T>C" "r.(?)" "p.(Leu1580Ser)" "33"
"0000778411" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000778412" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000778413" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000778414" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000778415" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000778416" "00001847" "70" "5087" "0" "5087" "0" "c.5087G>A" "r.(?)" "p.(Ser1696Asn)" "36"
"0000778417" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000778418" "00001847" "50" "-14" "0" "-14" "0" "c.-14G>A" "r.(?)" "p.(?)" "1"
"0000778419" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000778420" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000778421" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000778422" "00001847" "70" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" "35"
"0000778423" "00001847" "90" "3259" "0" "3259" "0" "c.3259G>A" "r.(?)" "p.(Glu1087Lys)" "22"
"0000778424" "00001847" "70" "4222" "0" "4222" "0" "c.4222T>C" "r.(?)" "p.(Trp1408Arg)" "28"
"0000778425" "00001847" "70" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" "35"
"0000778426" "00001847" "70" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.[=,5196_5197ins5196+1140_5196+1212]" "p.[=,Met1733Glufs*78]" "36i"
"0000778427" "00001847" "70" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" "31"
"0000778428" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000778429" "00001847" "90" "6319" "0" "6319" "0" "c.6319C>T" "r.(?)" "p.(Arg2107Cys)" "46"
"0000778430" "00001847" "70" "53" "0" "53" "0" "c.53G>A" "r.(?)" "p.(Arg18Gln)" "1"
"0000778431" "00001847" "70" "71" "0" "71" "0" "c.71G>A" "r.(?)" "p.(Arg24Cys)" "2"
"0000778432" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000778433" "00001847" "90" "2041" "0" "2041" "0" "c.2041C>T" "r.(?)" "p.(Arg681*)" "14"
"0000778434" "00001847" "70" "2297" "0" "2297" "0" "c.2297G>A" "r.(?)" "p.(Gly766Asp)" "15"
"0000778435" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000778436" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000778437" "00001847" "70" "1253" "0" "1253" "0" "c.1253T>C" "r.(?)" "p.(Phe418Ser)" "10"
"0000778438" "00001847" "90" "4234" "0" "4234" "0" "c.4234C>T" "r.(?)" "p.(Gln1412*)" "28"
"0000778439" "00001847" "70" "4793" "0" "4793" "0" "c.4793C>A" "r.(?)" "p.(Ala1598Asp)" "34"
"0000778440" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000778441" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000778442" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000778443" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000778444" "00001847" "90" "1760" "2" "1760" "2" "c.1760+2T>C" "r.spl" "p.?" "12i"
"0000778445" "00001847" "70" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" "31"
"0000778446" "00001847" "70" "4457" "0" "4457" "0" "c.4457C>T" "r.(?)" "p.(Pro1486Leu)" "30"
"0000778447" "00001847" "90" "571" "-2" "571" "-2" "c.571-2A>T" "r.spl" "p.?" "5i"
"0000778448" "00001847" "50" "2791" "0" "2791" "0" "c.2791G>A" "r.(?)" "p.(Val931Met)" "19"
"0000778449" "00001847" "70" "288" "0" "288" "0" "c.288C>A" "r.(?)" "p.(Asn96Lys)" "3"
"0000778450" "00001847" "70" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" "31"
"0000778451" "00001847" "90" "3056" "0" "3056" "0" "c.3056C>T" "r.(?)" "p.(Thr1019Met)" "21"
"0000778452" "00001847" "90" "3056" "0" "3056" "0" "c.3056C>T" "r.(?)" "p.(Thr1019Met)" "21"
"0000778453" "00001847" "70" "5417" "0" "5417" "0" "c.5417G>A" "r.(?)" "p.(Ser1806Asn)" "38"
"0000778454" "00001847" "70" "5087" "0" "5087" "0" "c.5087G>A" "r.(?)" "p.(Ser1696Asn)" "36"
"0000778455" "00001847" "90" "3296" "0" "3296" "0" "c.3296C>G" "r.(?)" "p.(Ser1099*)" "22"
"0000778456" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000778457" "00001847" "90" "6088" "0" "6088" "0" "c.6088C>T" "r.(?)" "p.(Arg2030*)" "44"
"0000778458" "00001847" "70" "5527" "0" "5527" "0" "c.5527C>T" "r.(?)" "p.(Arg1843Trp)" "39"
"0000778459" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000778460" "00001847" "70" "3323" "0" "3323" "0" "c.3323G>A" "r.(?)" "p.(Arg1108His)" "22"
"0000778461" "00001847" "50" "4297" "0" "4297" "0" "c.4297G>A" "r.(?)" "p.(Val1433Ile)" "29"
"0000778462" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000778463" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000778464" "00001847" "90" "6658" "0" "6658" "0" "c.6658C>T" "r.(?)" "p.(Gln2220*)" "48"
"0000778465" "00001847" "90" "4234" "0" "4234" "0" "c.4234C>T" "r.(?)" "p.(Gln1412*)" "28"
"0000778466" "00001847" "70" "4128" "0" "4128" "0" "c.4128G>A" "r.4128_4129ins4128+1_4128+12" "p.(Gln1376_Ile1377insValLeuLeuSer)" "27"
"0000778467" "00001847" "90" "3994" "0" "3994" "0" "c.3994C>T" "r.(?)" "p.(Gln1332*)" "27"
"0000778468" "00001847" "70" "4450" "0" "4450" "0" "c.4450C>T" "r.(?)" "p.(Pro1484Ser)" "30"
"0000778469" "00001847" "70" "203" "0" "203" "0" "c.203C>T" "r.(?)" "p.(Pro68Leu)" "3"
"0000778470" "00001847" "90" "6419" "0" "6419" "0" "c.6419T>A" "r.(?)" "p.(Leu2140Gln)" "47"
"0000778471" "00001847" "50" "5908" "0" "5908" "0" "c.5908C>T" "r.(?)" "p.(Leu1970Phe)" "43"
"0000778472" "00001847" "90" "6545" "0" "6548" "0" "c.6545_6548dup" "r.(?)" "p.(Pro2184Glufs*68)" "48"
"0000778473" "00001847" "50" "4739" "0" "4739" "0" "c.4739T>C" "r.(?)" "p.(Leu1580Ser)" "33"
"0000778474" "00001847" "50" "6515" "0" "6515" "0" "c.6515A>G" "r.(?)" "p.(Lys2172Arg)" "48"
"0000778475" "00001847" "90" "1714" "0" "1714" "0" "c.1714C>T" "r.(?)" "p.(Arg572*)" "12"
"0000778476" "00001847" "90" "5836" "-2" "5836" "-2" "c.5836-2del" "r.(?)" "p.(?)" "41i"
"0000778477" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000778478" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000778479" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000778480" "00001847" "90" "5018" "2" "5018" "2" "c.5018+2T>C" "r.spl" "p.?" "35i"
"0000778481" "00001847" "70" "5512" "0" "5512" "0" "c.5512C>A" "r.(?)" "p.(His1838Asn)" "39"
"0000778482" "00001847" "90" "2933" "0" "2933" "0" "c.2933G>A" "r.(?)" "p.(Gly978Asp)" "20"
"0000778483" "00001847" "70" "5929" "0" "5929" "0" "c.5929G>A" "r.(?)" "p.(Gly1977Ser)" "43"
"0000778484" "00001847" "70" "5929" "0" "5929" "0" "c.5929G>A" "r.(?)" "p.(Gly1977Ser)" "43"
"0000778485" "00001847" "70" "4793" "0" "4793" "0" "c.4793C>A" "r.(?)" "p.(Ala1598Asp)" "34"
"0000778486" "00001847" "50" "514" "0" "514" "0" "c.514G>A" "r.(?)" "p.(Gly172Ser)" "5"
"0000778487" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000778488" "00001847" "70" "3323" "0" "3323" "0" "c.3323G>A" "r.(?)" "p.(Arg1108His)" "22"
"0000778489" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000778490" "00001847" "70" "4793" "0" "4793" "0" "c.4793C>A" "r.(?)" "p.(Ala1598Asp)" "34"
"0000778491" "00001847" "90" "5018" "2" "5018" "2" "c.5018+2T>C" "r.spl" "p.?" "35i"
"0000778492" "00001847" "70" "3995" "0" "4018" "0" "c.3995_4018dup" "r.(?)" "p.(Gln1332_Cys1339dup)" "27"
"0000778493" "00001847" "70" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" "31"
"0000778494" "00001847" "90" "3531" "0" "3531" "0" "c.3531C>A" "r.(?)" "p.(Cys1177*)" "24"
"0000778495" "00001847" "90" "2099" "0" "2099" "0" "c.2099G>A" "r.(?)" "p.(Trp700*)" "14"
"0000778496" "00001847" "90" "4734" "0" "4739" "0" "c.4734_4739delinsCC" "r.(?)" "p.(Phe1579Glnfs*8)" "33"
"0000778497" "00001847" "90" "61" "0" "61" "0" "c.61C>T" "r.(?)" "p.(Gln21*)" "1"
"0000778498" "00001847" "70" "2519" "0" "2519" "0" "c.2519T>G" "r.(?)" "p.(Met840Arg)" "16"
"0000778499" "00001847" "50" "1245" "0" "1245" "0" "c.1245C>A" "r.(?)" "p.(Asn415Lys)" "10"
"0000778500" "00001847" "90" "3056" "0" "3056" "0" "c.3056C>T" "r.(?)" "p.(Thr1019Met)" "21"
"0000778501" "00001847" "90" "3531" "0" "3531" "0" "c.3531C>A" "r.(?)" "p.(Cys1177*)" "24"
"0000778502" "00001847" "70" "3233" "0" "3233" "0" "c.3233G>A" "r.(?)" "p.(Gly1078Glu)" "22"
"0000778503" "00001847" "70" "3043" "0" "3043" "0" "c.3043T>A" "r.(?)" "p.(Phe1015Ile)" "20"
"0000778504" "00001847" "90" "61" "0" "61" "0" "c.61C>T" "r.(?)" "p.(Gln21*)" "1"
"0000778505" "00001847" "70" "5381" "0" "5381" "0" "c.5381C>A" "r.(?)" "p.(Ala1794Asp)" "38"
"0000778506" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000778507" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000778508" "00001847" "70" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.[=,5196_5197ins5196+1140_5196+1212]" "p.[=,Met1733Glufs*78]" "36i"
"0000778509" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000778510" "00001847" "50" "4774" "-27" "4774" "-27" "c.4774-27T>C" "r.(?)" "p.(?)" "33i"
"0000778511" "00001847" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408*)" "9"
"0000778512" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000778513" "00001847" "70" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" "35"
"0000778514" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000778515" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000778516" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000778517" "00001847" "70" "161" "0" "161" "0" "c.161G>A" "r.[161_302del,161g>a]" "p.[Cys54Serfs*14,Cys54Tyr]" "3"
"0000778518" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000778519" "00001847" "70" "1844" "0" "1844" "0" "c.1844T>C" "r.(?)" "p.(Val615Ala)" "13"
"0000778520" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000778521" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000778522" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000778523" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000778524" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000778525" "00001847" "70" "2918" "5" "2918" "5" "c.2918+5G>A" "r.(?)" "p.(?)" "19"
"0000778526" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000778527" "00001847" "90" "570" "1798" "570" "1798" "c.570+1798A>G" "r.570_571ins570+1733_570+1797" "p.(Phe191Leufs*6)" "5i"
"0000778528" "00001847" "70" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.[=,5196_5197ins5196+1140_5196+1212]" "p.[=,Met1733Glufs*78]" "36i"
"0000778529" "00001847" "70" "1555" "-2745" "1555" "-2745" "c.1555-2745A>G" "r.spl?" "p.(?)" "11i"
"0000778530" "00001847" "90" "4232" "0" "4233" "0" "c.4232_4233insTATG" "r.(?)" "p.(Gln1412Metfs*11)" "28"
"0000778531" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000778532" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000778533" "00001847" "70" "4253" "43" "4253" "43" "c.4253+43G>A" "r.[=,4129_4253del]" "p.[=,Ile1377Hisfs*3]" "28i"
"0000778534" "00001847" "50" "6006" "-609" "6006" "-609" "c.6006-609T>A" "r.=" "p.(=)" "43i"
"0000778535" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000778536" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000778537" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000778538" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000778539" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000778540" "00001847" "90" "1100" "-1" "1100" "-1" "c.1100-1G>A" "r.spl" "p.?" "8i"
"0000778541" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000778542" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000778543" "00001847" "70" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" "31"
"0000778544" "00001847" "90" "5935" "0" "5935" "0" "c.5935del" "r.(?)" "p.(Thr1979Glnfs*13)" "43"
"0000778545" "00001847" "90" "319" "0" "319" "0" "c.319C>T" "r.(?)" "p.(Arg107*)" "4"
"0000778546" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000778547" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000778548" "00001847" "70" "4457" "0" "4457" "0" "c.4457C>T" "r.(?)" "p.(Pro1486Leu)" "30"
"0000778549" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000778550" "00001847" "90" "66" "0" "66" "0" "c.66G>A" "r.(?)" "p.(=)" "1"
"0000778551" "00001847" "90" "6658" "0" "6658" "0" "c.6658C>T" "r.(?)" "p.(Gln2220*)" "48"
"0000778552" "00001847" "50" "6190" "0" "6190" "0" "c.6190G>A" "r.(?)" "p.(Ala2064Thr)" "45"
"0000778553" "00001847" "70" "6113" "0" "6113" "0" "c.6113G>A" "r.(?)" "p.(Arg2038Gln)" "44"
"0000778554" "00001847" "70" "5645" "0" "5645" "0" "c.5645T>C" "r.(?)" "p.(Met1882Thr)" "40"
"0000778555" "00001847" "70" "5645" "0" "5645" "0" "c.5645T>C" "r.(?)" "p.(Met1882Thr)" "40"
"0000778556" "00001847" "90" "6118" "0" "6118" "0" "c.6118C>T" "r.(?)" "p.(Arg2040*)" "44"
"0000778557" "00001847" "50" "5761" "0" "5761" "0" "c.5761G>A" "r.(?)" "p.(Val1921Met)" "41"
"0000778558" "00001847" "70" "6722" "0" "6722" "0" "c.6722T>C" "r.(?)" "p.(Leu2241Pro)" "48"
"0000778559" "00001847" "70" "6722" "0" "6722" "0" "c.6722T>C" "r.(?)" "p.(Leu2241Pro)" "48"
"0000778560" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000778561" "00001847" "50" "4519" "0" "4519" "0" "c.4519G>A" "r.(?)" "p.(Gly1507Arg)" "30"
"0000778562" "00001847" "50" "3352" "0" "3352" "0" "c.3352C>T" "r.(?)" "p.(His1118Tyr)" "23"
"0000778563" "00001847" "90" "4555" "0" "4555" "0" "c.4555del" "r.(?)" "p.(Thr1519Argfs*7)" "31"
"0000778564" "00001847" "70" "6112" "0" "6112" "0" "c.6112C>T" "r.(?)" "p.(Arg2038Trp)" "44"
"0000778565" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000778566" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000778567" "00001847" "70" "5501" "0" "5501" "0" "c.5501T>C" "r.(?)" "p.(Ile1834Thr)" "39"
"0000778568" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000778569" "00001847" "70" "5646" "0" "5646" "0" "c.5646G>A" "r.(?)" "p.(Met1882Ile)" "40"
"0000778570" "00001847" "50" "3004" "0" "3004" "0" "c.3004C>T" "r.(?)" "p.(Arg1002Trp)" "20"
"0000778571" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000778572" "00001847" "90" "6146" "0" "6146" "0" "c.6146del" "r.(?)" "p.(Lys2049Argfs*12)" "44"
"0000778573" "00001847" "90" "6146" "0" "6146" "0" "c.6146del" "r.(?)" "p.(Lys2049Argfs*12)" "44"
"0000778574" "00001847" "70" "6127" "0" "6127" "0" "c.6127C>T" "r.(?)" "p.(Pro2043Ser)" "44"
"0000778575" "00001847" "90" "6816" "1" "6816" "1" "c.6816+1G>A" "r.spl" "p.?" "49i"
"0000778576" "00001847" "90" "4846" "0" "4847" "0" "c.4846_4847insT" "r.(?)" "p.(Lys1616Ilefs*5)" "34"
"0000778577" "00001847" "50" "6119" "0" "6119" "0" "c.6119G>A" "r.(?)" "p.(Arg2040Gln)" "44"
"0000778578" "00001847" "50" "5761" "0" "5761" "0" "c.5761G>A" "r.(?)" "p.(Val1921Met)" "41"
"0000778579" "00001847" "50" "5761" "0" "5761" "0" "c.5761G>A" "r.(?)" "p.(Val1921Met)" "41"
"0000778580" "00001847" "50" "4519" "0" "4519" "0" "c.4519G>A" "r.(?)" "p.(Gly1507Arg)" "30"
"0000778581" "00001847" "70" "3304" "0" "3304" "0" "c.3304G>T" "r.(?)" "p.(Asp1102Tyr)" "22"
"0000778582" "00001847" "70" "6498" "0" "6498" "0" "c.6498C>G" "r.(?)" "p.(Ile2166Met)" "48"
"0000778583" "00001847" "90" "6118" "0" "6118" "0" "c.6118C>T" "r.(?)" "p.(Arg2040*)" "44"
"0000778584" "00001847" "70" "2692" "0" "2692" "0" "c.2692G>A" "r.(?)" "p.(Glu898Lys)" "18"
"0000778585" "00001847" "90" "4538" "0" "4539" "0" "c.4538_4539insC" "r.(?)" "p.(Gln1513Hisfs*42)" "30"
"0000778586" "00001847" "70" "5645" "0" "5645" "0" "c.5645T>C" "r.(?)" "p.(Met1882Thr)" "40"
"0000778587" "00001847" "70" "5645" "0" "5645" "0" "c.5645T>C" "r.(?)" "p.(Met1882Thr)" "40"
"0000778588" "00001847" "70" "1229" "0" "1229" "0" "c.1229T>C" "r.(?)" "p.(Ile410Thr)" "9"
"0000778589" "00001847" "90" "6282" "1" "6282" "1" "c.6282+1G>C" "r.spl" "p.?" "45i"
"0000778590" "00001847" "70" "178" "0" "178" "0" "c.178G>A" "r.(?)" "p.(Ala60Thr)" "3"
"0000778591" "00001847" "70" "6563" "0" "6563" "0" "c.6563T>C" "r.(?)" "p.(Phe2188Ser)" "48"
"0000778592" "00001847" "90" "6118" "0" "6118" "0" "c.6118C>T" "r.(?)" "p.(Arg2040*)" "44"
"0000778593" "00001847" "90" "6282" "1" "6282" "1" "c.6282+1G>C" "r.spl" "p.?" "45i"
"0000778594" "00001847" "70" "3364" "0" "3364" "0" "c.3364G>A" "r.(?)" "p.(Glu1122Lys)" "23"
"0000778595" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000778596" "00001847" "70" "3106" "0" "3106" "0" "c.3106G>A" "r.(?)" "p.(Glu1036Lys)" "21"
"0000778597" "00001847" "90" "4775" "0" "4775" "0" "c.4775G>A" "r.(?)" "p.(Gly1592Asp)" "34"
"0000778598" "00001847" "90" "3608" "-1" "3608" "-1" "c.3608-1G>C" "r.spl" "p.?" "24i"
"0000778599" "00001847" "70" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" "31"
"0000778600" "00001847" "90" "2694" "0" "2736" "0" "c.2694_2736del" "r.(?)" "p.(Pro899Tyrfs*19)" "18"
"0000778601" "00001847" "50" "6389" "0" "6389" "0" "c.6389T>A" "r.(?)" "p.(Met2130Lys)" "47"
"0000778602" "00001847" "70" "6563" "0" "6563" "0" "c.6563T>C" "r.(?)" "p.(Phe2188Ser)" "48"
"0000778603" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000778604" "00001847" "90" "5302" "0" "5303" "0" "c.5302_5303del" "r.(?)" "p.(Leu1768Alafs*18)" "37"
"0000778605" "00001847" "70" "5593" "0" "5593" "0" "c.5593C>T" "r.(?)" "p.(His1865Tyr)" "40"
"0000778606" "00001847" "90" "1819" "0" "1819" "0" "c.1819G>A" "r.(?)" "p.(Gly607Arg)" "13"
"0000778607" "00001847" "90" "3212" "0" "3212" "0" "c.3212C>T" "r.(?)" "p.(Ser1071Leu)" "22"
"0000778608" "00001847" "70" "6317" "0" "6317" "0" "c.6317G>A" "r.(?)" "p.(Arg2106His)" "46"
"0000778609" "00001847" "90" "4537" "0" "4537" "0" "c.4537del" "r.(?)" "p.(Gln1513Argfs*13)" "30"
"0000778610" "00001847" "90" "1760" "0" "1760" "0" "c.1760G>A" "r.(?)" "p.(Arg587Lys,?)" "12"
"0000778611" "00001847" "70" "2384" "0" "2384" "0" "c.2384G>T" "r.(?)" "p.(Ser795Ile)" "16"
"0000778612" "00001847" "70" "6050" "0" "6050" "0" "c.6050G>A" "r.(?)" "p.(Cys2017Tyr)" "44"
"0000778613" "00001847" "50" "3071" "0" "3071" "0" "c.3071T>C" "r.(?)" "p.(Met1024Thr)" "21"
"0000778614" "00001847" "50" "6190" "0" "6190" "0" "c.6190G>A" "r.(?)" "p.(Ala2064Thr)" "45"
"0000778615" "00001847" "50" "6289" "0" "6289" "0" "c.6289C>T" "r.(?)" "p.(Pro2097Ser)" "46"
"0000778616" "00001847" "90" "1964" "0" "1964" "0" "c.1964del" "r.(?)" "p.(Phe655Serfs*15)" "14"
"0000778617" "00001847" "70" "6563" "0" "6563" "0" "c.6563T>C" "r.(?)" "p.(Phe2188Ser)" "48"
"0000778618" "00001847" "70" "6498" "0" "6498" "0" "c.6498C>G" "r.(?)" "p.(Ile2166Met)" "48"
"0000778619" "00001847" "50" "1294" "0" "1294" "0" "c.1294G>A" "r.(?)" "p.(Glu432Lys)" "10"
"0000778620" "00001847" "70" "3190" "0" "3190" "0" "c.3190G>C" "r.spl?" "p.(Gly1064Arg,?)" "21"
"0000778621" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000778622" "00001847" "70" "1034" "0" "1034" "0" "c.1034A>G" "r.(?)" "p.(Tyr345Cys)" "8"
"0000778623" "00001847" "70" "4558" "0" "4558" "0" "c.4558G>A" "r.(?)" "p.(Glu1520Lys)" "31"
"0000778624" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000778625" "00001847" "90" "6816" "1" "6816" "1" "c.6816+1G>A" "r.spl" "p.?" "49i"
"0000778626" "00001847" "70" "4670" "0" "4670" "0" "c.4670A>G" "r.(?)" "p.(Tyr1557Cys)" "33"
"0000778627" "00001847" "50" "164" "0" "164" "0" "c.164A>G" "r.(?)" "p.(His55Arg)" "3"
"0000778628" "00001847" "70" "1790" "0" "1790" "0" "c.1790C>T" "r.(?)" "p.(Pro597Leu)" "13"
"0000778629" "00001847" "70" "53" "0" "53" "0" "c.53G>C" "r.(?)" "p.(Arg18Pro)" "1"
"0000778630" "00001847" "50" "6289" "0" "6289" "0" "c.6289C>T" "r.(?)" "p.(Pro2097Ser)" "46"
"0000778631" "00001847" "90" "1957" "0" "1957" "0" "c.1957C>T" "r.(?)" "p.(Arg653Cys)" "14"
"0000778632" "00001847" "90" "6196" "0" "6196" "0" "c.6196del" "r.(?)" "p.(Cys2066Alafs*49)" "45"
"0000778633" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000778634" "00001847" "90" "2424" "0" "2424" "0" "c.2424C>G" "r.(?)" "p.(Tyr808*)" "16"
"0000778635" "00001847" "90" "3134" "0" "3135" "0" "c.3134_3135insA" "r.(?)" "p.(Met1045Ilefs*13)" "21"
"0000778636" "00001847" "90" "1561" "0" "1561" "0" "c.1561del" "r.(?)" "p.(Val521Serfs*47)" "12"
"0000778637" "00001847" "70" "983" "0" "983" "0" "c.983A>T" "r.(?)" "p.(Glu328Val)" "8"
"0000778638" "00001847" "70" "4748" "0" "4748" "0" "c.4748T>C" "r.(?)" "p.(Leu1583Pro)" "33"
"0000778639" "00001847" "90" "5460" "1" "5460" "1" "c.5460+1G>C" "r.spl" "p.?" "38i"
"0000778640" "00001847" "90" "2424" "0" "2424" "0" "c.2424C>G" "r.(?)" "p.(Tyr808*)" "16"
"0000778641" "00001847" "90" "885" "0" "885" "0" "c.885del" "r.(?)" "p.(Leu296Cysfs*4)" "8"
"0000778642" "00001847" "70" "2908" "0" "2908" "0" "c.2908A>G" "r.(?)" "p.(Thr970Ala)" "19"
"0000778643" "00001847" "70" "5881" "0" "5881" "0" "c.5881G>A" "r.(?)" "p.(Gly1961Arg)" "42"
"0000778644" "00001847" "50" "6098" "0" "6098" "0" "c.6098T>C" "r.(?)" "p.(Leu2033Pro)" "44"
"0000778645" "00001847" "50" "763" "0" "763" "0" "c.763C>T" "r.(?)" "p.(Arg255Cys)" "6"
"0000778646" "00001847" "90" "3056" "0" "3056" "0" "c.3056C>T" "r.(?)" "p.(Thr1019Met)" "21"
"0000778647" "00001847" "50" "6287" "0" "6287" "0" "c.6287A>T" "r.(?)" "p.(Glu2096Val)" "46"
"0000778648" "00001847" "50" "6119" "0" "6119" "0" "c.6119G>A" "r.(?)" "p.(Arg2040Gln)" "44"
"0000778649" "00001847" "70" "6563" "0" "6563" "0" "c.6563T>C" "r.(?)" "p.(Phe2188Ser)" "48"
"0000778650" "00001847" "70" "1958" "0" "1958" "0" "c.1958G>A" "r.(?)" "p.(Arg653His)" "14"
"0000778651" "00001847" "90" "3468" "0" "3468" "0" "c.3468C>G" "r.(?)" "p.(Tyr1156*)" "23"
"0000778652" "00001847" "70" "1293" "0" "1293" "0" "c.1293G>C" "r.(?)" "p.(Trp431Cys)" "10"
"0000778653" "00001847" "70" "2870" "0" "2870" "0" "c.2870A>C" "r.(?)" "p.(Gln957Pro)" "19"
"0000778654" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000778655" "00001847" "70" "6563" "0" "6563" "0" "c.6563T>C" "r.(?)" "p.(Phe2188Ser)" "48"
"0000778656" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000778657" "00001847" "70" "5072" "0" "5072" "0" "c.5072C>T" "r.(?)" "p.(Ser1691Phe)" "36"
"0000778658" "00001847" "70" "3476" "0" "3476" "0" "c.3476T>C" "r.(?)" "p.(Leu1159Ser)" "23"
"0000778659" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000778660" "00001847" "70" "983" "0" "983" "0" "c.983A>T" "r.(?)" "p.(Glu328Val)" "8"
"0000778661" "00001847" "90" "6006" "-1" "6006" "-1" "c.6006-1G>A" "r.spl" "p.?" "43i"
"0000778662" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000778663" "00001847" "70" "2845" "0" "2845" "0" "c.2845C>G" "r.(?)" "p.(Leu949Val)" "19"
"0000778664" "00001847" "90" "1561" "0" "1561" "0" "c.1561del" "r.(?)" "p.(Val521Serfs*47)" "12"
"0000778665" "00001847" "70" "1232" "0" "1232" "0" "c.1232T>C" "r.(?)" "p.(Leu411Pro)" "9"
"0000778666" "00001847" "70" "1232" "0" "1232" "0" "c.1232T>C" "r.(?)" "p.(Leu411Pro)" "9"
"0000778667" "00001847" "70" "6563" "0" "6563" "0" "c.6563T>C" "r.(?)" "p.(Phe2188Ser)" "48"
"0000778668" "00001847" "70" "6563" "0" "6563" "0" "c.6563T>C" "r.(?)" "p.(Phe2188Ser)" "48"
"0000778669" "00001847" "90" "3608" "-1" "3608" "-1" "c.3608-1G>C" "r.spl" "p.?" "24i"
"0000778670" "00001847" "90" "2424" "0" "2424" "0" "c.2424C>G" "r.(?)" "p.(Tyr808*)" "16"
"0000778671" "00001847" "90" "2424" "0" "2424" "0" "c.2424C>G" "r.(?)" "p.(Tyr808*)" "16"
"0000778672" "00001847" "70" "1531" "0" "1531" "0" "c.1531C>T" "r.(?)" "p.(Arg511Cys)" "11"
"0000778673" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000778674" "00001847" "70" "1892" "0" "1892" "0" "c.1892G>T" "r.(?)" "p.(Gly631Val)" "13"
"0000778675" "00001847" "70" "3190" "0" "3190" "0" "c.3190G>C" "r.spl?" "p.(Gly1064Arg,?)" "21"
"0000778676" "00001847" "70" "2473" "0" "2473" "0" "c.2473G>A" "r.(?)" "p.(Gly825Arg)" "16"
"0000778677" "00001847" "90" "6282" "1" "6282" "1" "c.6282+1G>C" "r.spl" "p.?" "45i"
"0000778678" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000778679" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000778680" "00001847" "70" "6698" "0" "6698" "0" "c.6698A>T" "r.(?)" "p.(Glu2233Val)" "48"
"0000778681" "00001847" "90" "247" "0" "250" "0" "c.247_250dup" "r.(?)" "p.(Ser84Thrfs*16)" "3"
"0000778682" "00001847" "50" "6730" "-19" "6730" "-19" "c.6730-19G>A" "r.(?)" "p.(?)" "48i"
"0000778683" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000778684" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000778685" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000778686" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000778687" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000778688" "00001847" "50" "868" "0" "868" "0" "c.868C>T" "r.(?)" "p.(Arg290Trp)" "8"
"0000778689" "00001847" "50" "1761" "-50" "1761" "-50" "c.1761-50G>A" "r.(?)" "p.(?)" "12i"
"0000778690" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000778691" "00001847" "70" "3304" "0" "3304" "0" "c.3304G>T" "r.(?)" "p.(Asp1102Tyr)" "22"
"0000778692" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000778693" "00001847" "70" "1018" "0" "1018" "0" "c.1018T>C" "r.(?)" "p.(Tyr340His)" "8"
"0000778694" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000778695" "00001847" "70" "6449" "0" "6449" "0" "c.6449G>A" "r.(?)" "p.(Cys2150Tyr)" "47"
"0000778696" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000778697" "00001847" "70" "4069" "0" "4069" "0" "c.4069G>A" "r.(?)" "p.(Ala1357Thr)" "27"
"0000778698" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000778699" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000778700" "00001847" "30" "6729" "21" "6729" "21" "c.6729+21C>T" "r.(?)" "p.(?)" "48i"
"0000778701" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000778702" "00001847" "30" "6729" "21" "6729" "21" "c.6729+21C>T" "r.(?)" "p.(?)" "48i"
"0000778703" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000778704" "00001847" "50" "3582" "0" "3582" "0" "c.3582C>A" "r.(?)" "p.(Asp1194Glu)" "24"
"0000778705" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000778706" "00001847" "90" "6415" "0" "6415" "0" "c.6415C>T" "r.(?)" "p.(Arg2139Trp)" "47"
"0000778707" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000778708" "00001847" "90" "3259" "0" "3259" "0" "c.3259G>A" "r.(?)" "p.(Glu1087Lys)" "22"
"0000778709" "00001847" "30" "4500" "0" "4500" "0" "c.4500A>G" "r.(?)" "p.(Pro1500=)" "30"
"0000778710" "00001847" "70" "2461" "0" "2461" "0" "c.2461T>A" "r.(?)" "p.(Trp821Arg)" "16"
"0000778711" "00001847" "30" "6729" "21" "6729" "21" "c.6729+21C>T" "r.(?)" "p.(?)" "48i"
"0000778712" "00001847" "90" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973*)" "43"
"0000778713" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000778714" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000778715" "00001847" "70" "1715" "0" "1715" "0" "c.1715G>A" "r.(?)" "p.(Arg572Gln)" "12"
"0000778716" "00001847" "50" "5206" "0" "5206" "0" "c.5206T>C" "r.(?)" "p.(Ser1736Pro)" "37"
"0000778717" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000778718" "00001847" "50" "4685" "0" "4685" "0" "c.4685T>C" "r.(?)" "p.(Ile1562Thr)" "33"
"0000778719" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000778720" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000778721" "00001847" "70" "4253" "5" "4253" "5" "c.4253+5G>A" "r.4129_4253del" "p.(Ile1377Hisfs*3)" "28i"
"0000778722" "00001847" "70" "2915" "0" "2915" "0" "c.2915C>A" "r.(?)" "p.(Thr972Asn)" "19"
"0000778723" "00001847" "70" "2609" "0" "2609" "0" "c.2609C>T" "r.(?)" "p.(Pro870Leu)" "17"
"0000778724" "00001847" "90" "564" "0" "564" "0" "c.564del" "r.(?)" "p.(Glu189Serfs*12)" "5"
"0000778725" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000778726" "00001847" "70" "1267" "0" "1267" "0" "c.1267C>T" "r.(?)" "p.(His423Tyr)" "10"
"0000778727" "00001847" "70" "3608" "0" "3608" "0" "c.3608G>A" "r.[3608g>a,3608_3813del]" "p.[Gly1203Glu,Gly1203Aspfs*10]" "25"
"0000778728" "00001847" "70" "3334" "0" "3334" "0" "c.3334A>G" "r.(?)" "p.(Thr1112Ala)" "23"
"0000778729" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000778730" "00001847" "70" "4222" "0" "4222" "0" "c.4222T>C" "r.(?)" "p.(Trp1408Arg)" "28"
"0000778731" "00001847" "90" "6386" "2" "6386" "2" "c.6386+2C>G" "r.(?)" "p.(?)" "46i"
"0000778732" "00001847" "50" "4519" "0" "4519" "0" "c.4519G>A" "r.(?)" "p.(Gly1507Arg)" "30"
"0000778733" "00001847" "90" "1619" "0" "1622" "0" "c.1619_1622del" "r.(?)" "p.(Ser540Tyrfs*27)" "12"
"0000778734" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000778735" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000778736" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000778737" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000778738" "00001847" "70" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" "44"
"0000778739" "00001847" "90" "2041" "0" "2041" "0" "c.2041C>T" "r.(?)" "p.(Arg681*)" "14"
"0000778740" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000778741" "00001847" "70" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" "44"
"0000778742" "00001847" "50" "5908" "0" "5908" "0" "c.5908C>T" "r.(?)" "p.(Leu1970Phe)" "43"
"0000778743" "00001847" "70" "6686" "0" "6686" "0" "c.6686T>C" "r.(?)" "p.(Leu2229Pro)" "48"
"0000778744" "00001847" "50" "6148" "0" "6148" "0" "c.6148G>C" "r.=" "p.(Val2050Leu)" "45"
"0000778745" "00001847" "30" "3285" "0" "3285" "0" "c.3285C>T" "r.(?)" "p.(Tyr1095=)" "22"
"0000778746" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000778747" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000778748" "00001847" "50" "1140" "0" "1140" "0" "c.1140T>A" "r.(?)" "p.(Asn380Lys)" "9"
"0000778749" "00001847" "50" "1937" "15" "1937" "15" "c.1937+15C>T" "r.(?)" "p.(?)" "13i"
"0000778750" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000778751" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000778752" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000778753" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000778754" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000778755" "00001847" "90" "1906" "0" "1906" "0" "c.1906C>T" "r.(?)" "p.(Gln636*)" "13"
"0000778756" "00001847" "50" "2401" "0" "2401" "0" "c.2401G>A" "r.(?)" "p.(Ala801Thr)" "16"
"0000778757" "00001847" "70" "5381" "0" "5381" "0" "c.5381C>A" "r.(?)" "p.(Ala1794Asp)" "38"
"0000778758" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000778759" "00001847" "90" "4639" "0" "4639" "0" "c.4639A>T" "r.(?)" "p.(Lys1547*)" "32"
"0000778760" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000778761" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000778762" "00001847" "70" "1085" "0" "1085" "0" "c.1085A>G" "r.(?)" "p.(Tyr362Cys)" "8"
"0000778763" "00001847" "90" "3056" "0" "3056" "0" "c.3056C>T" "r.(?)" "p.(Thr1019Met)" "21"
"0000778764" "00001847" "50" "5908" "0" "5908" "0" "c.5908C>T" "r.(?)" "p.(Leu1970Phe)" "43"
"0000778765" "00001847" "70" "2300" "0" "2300" "0" "c.2300T>A" "r.(?)" "p.(Val767Asp)" "15"
"0000778766" "00001847" "50" "5196" "1015" "5196" "1015" "c.5196+1015A>G" "r.=" "p.(=)" "36i"
"0000778767" "00001847" "50" "5196" "1158" "5196" "1158" "c.5196+1158C>T" "r.(?)" "p.(?)" "36i"
"0000778768" "00001847" "70" "3094" "0" "3094" "0" "c.3094G>C" "r.(?)" "p.(Gly1032Arg)" "21"
"0000778769" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000778770" "00001847" "70" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" "44"
"0000778771" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000778772" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000778773" "00001847" "50" "4129" "-17" "4129" "-17" "c.4129-17C>T" "r.(?)" "p.(?)" "27i"
"0000778774" "00001847" "70" "4319" "0" "4319" "0" "c.4319T>C" "r.(?)" "p.(Phe1440Ser)" "29"
"0000778775" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000778776" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000778777" "00001847" "90" "1906" "0" "1906" "0" "c.1906C>T" "r.(?)" "p.(Gln636*)" "13"
"0000778778" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000778779" "00001847" "70" "5196" "2" "5196" "2" "c.5196+2dup" "r.spl?" "p.(?)" "36i"
"0000778780" "00001847" "90" "4234" "0" "4234" "0" "c.4234C>T" "r.(?)" "p.(Gln1412*)" "28"
"0000778781" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000778782" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000778783" "00001847" "50" "1343" "0" "1343" "0" "c.1343T>A" "r.(?)" "p.(Met448Lys)" "10"
"0000778784" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000778785" "00001847" "70" "5333" "0" "5333" "0" "c.5333T>A" "r.(?)" "p.(Met1778Lys)" "38"
"0000778786" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000778787" "00001847" "70" "6085" "0" "6085" "0" "c.6085G>A" "r.(?)" "p.(Gly2029Arg)" "44"
"0000778788" "00001847" "90" "6166" "0" "6166" "0" "c.6166A>T" "r.(?)" "p.(Lys2056*)" "45"
"0000778789" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000778790" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000778791" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000778792" "00001847" "70" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.[=,5196_5197ins5196+1140_5196+1212]" "p.[=,Met1733Glufs*78]" "36i"
"0000778793" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000778794" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000778795" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000778796" "00001847" "90" "2041" "0" "2041" "0" "c.2041C>T" "r.(?)" "p.(Arg681*)" "14"
"0000778797" "00001847" "70" "2537" "0" "2537" "0" "c.2537A>T" "r.(?)" "p.(Asp846Val)" "16"
"0000778798" "00001847" "70" "2609" "0" "2609" "0" "c.2609C>T" "r.(?)" "p.(Pro870Leu)" "17"
"0000778799" "00001847" "50" "4352" "13" "4352" "13" "c.4352+13G>A" "r.(?)" "p.(?)" "29i"
"0000778800" "00001847" "50" "3413" "0" "3413" "0" "c.3413T>C" "r.(?)" "p.(Leu1138Pro)" "23"
"0000778801" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000778802" "00001847" "70" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.[=,5196_5197ins5196+1140_5196+1212]" "p.[=,Met1733Glufs*78]" "36i"
"0000778803" "00001847" "50" "1140" "0" "1140" "0" "c.1140T>A" "r.(?)" "p.(Asn380Lys)" "9"
"0000778804" "00001847" "70" "4765" "0" "4765" "0" "c.4765G>A" "r.(?)" "p.(Val1589Met)" "33"
"0000778805" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000778806" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000778807" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000778808" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000778809" "00001847" "50" "1964" "0" "1964" "0" "c.1964T>G" "r.(?)" "p.(Phe655Cys)" "14"
"0000778810" "00001847" "70" "6342" "0" "6342" "0" "c.6342G>A" "r.(?)" "p.(=)" "46"
"0000778811" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000778812" "00001847" "90" "700" "0" "700" "0" "c.700C>T" "r.(?)" "p.(Gln234*)" "6"
"0000778813" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000778814" "00001847" "90" "3056" "0" "3056" "0" "c.3056C>T" "r.(?)" "p.(Thr1019Met)" "21"
"0000778815" "00001847" "50" "2970" "0" "2970" "0" "c.2970G>A" "r.(?)" "p.(Gly990=)" "20"
"0000778816" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000778817" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000778818" "00001847" "90" "6730" "-1" "6730" "-1" "c.6730-1G>C" "r.spl" "p.?" "48i"
"0000778819" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000778820" "00001847" "70" "3059" "0" "3059" "0" "c.3059T>A" "r.(?)" "p.(Val1020Glu)" "21"
"0000778821" "00001847" "70" "2572" "0" "2572" "0" "c.2572G>T" "r.(?)" "p.(Asp858Tyr)" "16"
"0000778822" "00001847" "50" "2587" "11" "2587" "11" "c.2587+11T>C" "r.(?)" "p.(?)" "16i"
"0000778823" "00001847" "90" "5018" "5" "5018" "5" "c.5018+5G>A" "r.4849_5018del" "p.(Val1617Alafs*113)" "35i"
"0000778824" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000778825" "00001847" "70" "4383" "0" "4383" "0" "c.4383G>C" "r.(?)" "p.(Trp1461Cys)" "30"
"0000778826" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000778827" "00001847" "70" "4889" "0" "4889" "0" "c.4889T>C" "r.(?)" "p.(Phe1630Ser)" "35"
"0000778828" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000778829" "00001847" "70" "6722" "0" "6722" "0" "c.6722T>C" "r.(?)" "p.(Leu2241Pro)" "48"
"0000778830" "00001847" "70" "2311" "0" "2311" "0" "c.2311A>T" "r.(?)" "p.(Thr771Ser)" "15"
"0000778831" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000778832" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000778833" "00001847" "70" "6098" "0" "6098" "0" "c.6098T>G" "r.(?)" "p.(Leu2033Arg)" "44"
"0000778834" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000778835" "00001847" "70" "71" "0" "71" "0" "c.71G>A" "r.(?)" "p.(Arg24Cys)" "2"
"0000778836" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000778837" "00001847" "70" "4538" "0" "4538" "0" "c.4538A>G" "r.[4539_4540ins4540+1_4530+30,4467_4539del]" "p.(Arg1513_Arg1514ins10,Cys1490Glufs*12)" "30"
"0000778838" "00001847" "70" "5714" "4" "5714" "4" "c.5714+4C>T" "r.spl?" "p.(?)" "40i"
"0000778839" "00001847" "50" "5391" "0" "5391" "0" "c.5391T>C" "r.(?)" "p.(Cys1797=)" "38"
"0000778840" "00001847" "70" "926" "0" "926" "0" "c.926C>G" "r.(?)" "p.(Pro309Arg)" "8"
"0000778841" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000778842" "00001847" "70" "294" "0" "294" "0" "c.294C>G" "r.(?)" "p.(Asn98Lys)" "3"
"0000778843" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000778844" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000778845" "00001847" "50" "466" "0" "466" "0" "c.466A>G" "r.(?)" "p.(Ile156Val)" "5"
"0000778846" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000778847" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000778848" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000778849" "00001847" "70" "5773" "0" "5773" "0" "c.5773A>G" "r.(?)" "p.(Arg1925Gly)" "41"
"0000778850" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000778851" "00001847" "70" "1519" "0" "1519" "0" "c.1519G>T" "r.(?)" "p.(Asp507Tyr)" "11"
"0000778852" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000778853" "00001847" "70" "4253" "5" "4253" "5" "c.4253+5G>T" "r.[4129_4253del,=]" "p.[Ile1377Hisfs*3,=]" "28i"
"0000778854" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000778855" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000778856" "00001847" "70" "4995" "0" "4995" "0" "c.4995G>C" "r.(?)" "p.(Lys1665Asn)" "35"
"0000778857" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000778858" "00001847" "90" "1819" "0" "1819" "0" "c.1819G>A" "r.(?)" "p.(Gly607Arg)" "13"
"0000778859" "00001847" "70" "3608" "0" "3608" "0" "c.3608G>A" "r.[3608g>a,3608_3813del]" "p.[Gly1203Glu,Gly1203Aspfs*10]" "25"
"0000778860" "00001847" "70" "5537" "0" "5537" "0" "c.5537T>C" "r.(?)" "p.(Ile1846Thr)" "39"
"0000778861" "00001847" "50" "4506" "0" "4506" "0" "c.4506C>T" "r.(?)" "p.(=)" "30"
"0000778862" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000778863" "00001847" "70" "4594" "0" "4594" "0" "c.4594G>A" "r.(?)" "p.(Asp1532Asn)" "31"
"0000778864" "00001847" "70" "1610" "0" "1610" "0" "c.1610G>A" "r.(?)" "p.(Arg537His)" "12"
"0000778865" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000778866" "00001847" "50" "2791" "0" "2791" "0" "c.2791G>A" "r.(?)" "p.(Val931Met)" "19"
"0000778867" "00001847" "70" "6146" "0" "6146" "0" "c.6146A>C" "r.(?)" "p.(Lys2049Thr)" "44"
"0000778868" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000778869" "00001847" "90" "1317" "0" "1317" "0" "c.1317G>A" "r.(?)" "p.(Trp439*)" "10"
"0000778870" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000778871" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000778872" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000778873" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000778874" "00001847" "70" "6110" "0" "6110" "0" "c.6110C>A" "r.(?)" "p.(Ala2037Asp)" "44"
"0000778875" "00001847" "50" "3758" "0" "3758" "0" "c.3758C>T" "r.(?)" "p.(Thr1253Met)" "25"
"0000778876" "00001847" "50" "5908" "0" "5908" "0" "c.5908C>T" "r.(?)" "p.(Leu1970Phe)" "43"
"0000778877" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000778878" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000778879" "00001847" "70" "5537" "0" "5537" "0" "c.5537T>C" "r.(?)" "p.(Ile1846Thr)" "39"
"0000778880" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000778881" "00001847" "70" "203" "0" "203" "0" "c.203C>G" "r.(?)" "p.(Pro68Arg)" "3"
"0000778882" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000778883" "00001847" "70" "1356" "20" "1356" "20" "c.1356+20G>A" "r.spl?" "p.(?)" "10i"
"0000778884" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000778885" "00001847" "50" "6119" "0" "6119" "0" "c.6119G>A" "r.(?)" "p.(Arg2040Gln)" "44"
"0000778886" "00001847" "70" "4919" "0" "4919" "0" "c.4919G>A" "r.(?)" "p.(Arg1640Gln)" "35"
"0000778887" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000778888" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000778889" "00001847" "50" "1335" "0" "1335" "0" "c.1335C>G" "r.(?)" "p.(Ser445Arg)" "10"
"0000778890" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000778891" "00001847" "70" "6449" "0" "6449" "0" "c.6449G>A" "r.(?)" "p.(Cys2150Tyr)" "47"
"0000778892" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000778893" "00001847" "50" "2401" "0" "2401" "0" "c.2401G>A" "r.(?)" "p.(Ala801Thr)" "16"
"0000778894" "00001847" "90" "4234" "0" "4234" "0" "c.4234C>T" "r.(?)" "p.(Gln1412*)" "28"
"0000778895" "00001847" "70" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.[=,5196_5197ins5196+1140_5196+1212]" "p.[=,Met1733Glufs*78]" "36i"
"0000778896" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000778897" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000778898" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000778899" "00001847" "70" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.[=,5196_5197ins5196+1140_5196+1212]" "p.[=,Met1733Glufs*78]" "36i"
"0000778900" "00001847" "70" "618" "0" "618" "0" "c.618C>G" "r.(?)" "p.(Ser206Arg)" "6"
"0000778901" "00001847" "50" "6119" "0" "6119" "0" "c.6119G>A" "r.(?)" "p.(Arg2040Gln)" "44"
"0000778902" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000778903" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000778904" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000778905" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000778906" "00001847" "90" "1714" "0" "1714" "0" "c.1714C>T" "r.(?)" "p.(Arg572*)" "12"
"0000778907" "00001847" "90" "3261" "0" "3261" "0" "c.3261A>C" "r.(?)" "p.(Glu1087Asp)" "22"
"0000778908" "00001847" "50" "4297" "0" "4297" "0" "c.4297G>A" "r.(?)" "p.(Val1433Ile)" "29"
"0000778909" "00001847" "70" "4773" "3" "4773" "3" "c.4773+3A>G" "r.[4668_4773del,=]" "p.[Tyr1557Alafs*18,=]" "33i"
"0000778910" "00001847" "70" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.[=,5196_5197ins5196+1140_5196+1212]" "p.[=,Met1733Glufs*78]" "36i"
"0000778911" "00001847" "50" "2034" "0" "2034" "0" "c.2034G>T" "r.(?)" "p.(Lys678Asn)" "14"
"0000778912" "00001847" "90" "1937" "5" "1937" "5" "c.1937+5G>A" "r.1806_1937del" "p.(Tyr603_Ser646del)" "13i"
"0000778913" "00001847" "70" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.[=,5196_5197ins5196+1140_5196+1212]" "p.[=,Met1733Glufs*78]" "36i"
"0000778914" "00001847" "50" "1654" "0" "1654" "0" "c.1654G>A" "r.(?)" "p.(Val552Ile)" "12"
"0000778915" "00001847" "70" "3329" "-11" "3329" "-11" "c.3329-11C>T" "r.spl?" "p.(?)" "22i"
"0000778916" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000778917" "00001847" "70" "741" "0" "741" "0" "c.741C>A" "r.(?)" "p.(Asn247Lys)" "6"
"0000778918" "00001847" "90" "6479" "1" "6479" "1" "c.6479+1G>C" "r.spl" "p.?" "47i"
"0000778919" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000778920" "00001847" "90" "4689" "0" "4689" "0" "c.4689del" "r.(?)" "p.(Gly1564Glufs*17)" "33"
"0000778921" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000778922" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000778923" "00001847" "90" "1086" "0" "1086" "0" "c.1086T>A" "r.(?)" "p.(Tyr362*)" "8"
"0000778924" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000778925" "00001847" "30" "2160" "584" "2160" "584" "c.2160+584A>G" "r.=" "p.(=)" "14i"
"0000778926" "00001847" "50" "3210" "0" "3210" "0" "c.3210G>C" "r.(?)" "p.(Leu1070=)" "22"
"0000778927" "00001847" "70" "5044" "0" "5058" "0" "c.5044_5058del" "r.(?)" "p.(Val1682_Val1686del)" "36"
"0000778928" "00001847" "50" "4926" "0" "4926" "0" "c.4926C>G" "r.(?)" "p.(Ser1642Arg)" "35"
"0000778929" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000778930" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000778931" "00001847" "70" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.[=,5196_5197ins5196+1140_5196+1212]" "p.[=,Met1733Glufs*78]" "36i"
"0000778932" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000778933" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000778934" "00001847" "50" "1938" "-605" "1938" "-605" "c.1938-605C>T" "r.(?)" "p.(?)" "13i"
"0000778935" "00001847" "90" "2919" "-2" "2919" "-2" "c.2919-2A>G" "r.spl" "p.?" "19i"
"0000778936" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000778937" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000778938" "00001847" "70" "4889" "0" "4889" "0" "c.4889T>C" "r.(?)" "p.(Phe1630Ser)" "35"
"0000778939" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000778940" "00001847" "70" "286" "0" "286" "0" "c.286A>G" "r.(?)" "p.(Asn96Asp)" "3"
"0000778941" "00001847" "30" "2588" "-12" "2588" "-12" "c.2588-12C>G" "r.=" "p.(=)" "16i"
"0000778942" "00001847" "50" "5835" "16" "5835" "16" "c.5835+16T>C" "r.(?)" "p.(?)" "41i"
"0000778943" "00001847" "90" "2383" "-1" "2383" "-1" "c.2383-1G>C" "r.spl" "p.?" "15i"
"0000778944" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000778945" "00001847" "90" "6088" "0" "6088" "0" "c.6088C>T" "r.(?)" "p.(Arg2030*)" "44"
"0000778946" "00001847" "70" "2930" "0" "2930" "0" "c.2930C>T" "r.(?)" "p.(Thr977Met)" "20"
"0000778947" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000778948" "00001847" "70" "161" "0" "161" "0" "c.161G>A" "r.[161_302del,161g>a]" "p.[Cys54Serfs*14,Cys54Tyr]" "3"
"0000778949" "00001847" "50" "1654" "0" "1654" "0" "c.1654G>A" "r.(?)" "p.(Val552Ile)" "12"
"0000778950" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000778951" "00001847" "50" "6148" "-489" "6148" "-489" "c.6148-489C>T" "r.(?)" "p.(?)" "44i"
"0000778952" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000778953" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000778954" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000778955" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000778956" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000778957" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000778958" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000778959" "00001847" "90" "2041" "0" "2041" "0" "c.2041C>T" "r.(?)" "p.(Arg681*)" "14"
"0000778960" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000778961" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000778962" "00001847" "70" "161" "0" "161" "0" "c.161G>A" "r.[161_302del,161g>a]" "p.[Cys54Serfs*14,Cys54Tyr]" "3"
"0000778963" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000778964" "00001847" "50" "387" "0" "387" "0" "c.387A>G" "r.(?)" "p.(Leu129=)" "4"
"0000778965" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000778966" "00001847" "70" "3379" "0" "3379" "0" "c.3379G>A" "r.(?)" "p.(Gly1127Arg)" "23"
"0000778967" "00001847" "50" "1356" "5" "1356" "6" "c.1356+5_1356+6insC" "r.spl?" "p.(?)" "10i"
"0000778968" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000778969" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000778970" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000778971" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000778972" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000778973" "00001847" "50" "2701" "0" "2701" "0" "c.2701A>G" "r.(?)" "p.(Thr901Ala)" "18"
"0000778974" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000778975" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000778976" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000778977" "00001847" "90" "4537" "0" "4537" "0" "c.4537dup" "r.(?)" "p.(Gln1513Profs*42)" "30"
"0000778978" "00001847" "50" "2433" "0" "2433" "0" "c.2433C>T" "r.(?)" "p.(Arg811=)" "16"
"0000778979" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000778980" "00001847" "90" "913" "0" "913" "0" "c.913C>T" "r.(?)" "p.(Gln305*)" "8"
"0000778981" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000778982" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000778983" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000778984" "00001847" "50" "5056" "0" "5056" "0" "c.5056G>A" "r.(?)" "p.(Val1686Met)" "36"
"0000778985" "00001847" "70" "5463" "0" "5463" "0" "c.5463G>A" "r.spl?" "p.(Thr1821=,?)" "38"
"0000778986" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000778987" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000778988" "00001847" "30" "1653" "0" "1653" "0" "c.1653G>A" "r.(?)" "p.(Val551=)" "12"
"0000778989" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000778990" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000778991" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000778992" "00001847" "70" "1364" "0" "1364" "0" "c.1364T>C" "r.(?)" "p.(Leu455Pro)" "11"
"0000778993" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000778994" "00001847" "50" "2877" "0" "2877" "0" "c.2877C>T" "r.(?)" "p.(Thr959=)" "19"
"0000778995" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000778996" "00001847" "70" "3385" "0" "3385" "0" "c.3385C>T" "r.(?)" "p.(Arg1129Cys)" "23"
"0000778997" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000778998" "00001847" "70" "2461" "0" "2461" "0" "c.2461T>A" "r.(?)" "p.(Trp821Arg)" "16"
"0000778999" "00001847" "70" "1715" "0" "1715" "0" "c.1715G>A" "r.(?)" "p.(Arg572Gln)" "12"
"0000779000" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000779001" "00001847" "50" "5908" "0" "5908" "0" "c.5908C>T" "r.(?)" "p.(Leu1970Phe)" "43"
"0000779002" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000779003" "00001847" "70" "5196" "3" "5196" "6" "c.5196+3_5196+6del" "r.4849_5196del" "p.(Val1617_Ile1732del)" "36i"
"0000779004" "00001847" "70" "203" "0" "203" "0" "c.203C>T" "r.(?)" "p.(Pro68Leu)" "3"
"0000779005" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000779006" "00001847" "50" "6148" "0" "6148" "0" "c.6148G>C" "r.=" "p.(Val2050Leu)" "45"
"0000779007" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000779008" "00001847" "90" "3522" "1" "3522" "1" "c.3522+1G>T" "r.spl" "p.?" "23i"
"0000779009" "00001847" "70" "6122" "0" "6122" "0" "c.6122G>T" "r.(?)" "p.(Gly2041Val)" "44"
"0000779010" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000779011" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000779012" "00001847" "70" "5584" "0" "5584" "0" "c.5584G>A" "r.(?)" "p.(Gly1862Ser)" "39"
"0000779013" "00001847" "50" "6333" "0" "6333" "0" "c.6333C>T" "r.(?)" "p.(Asn2111=)" "46"
"0000779014" "00001847" "30" "672" "0" "672" "0" "c.672G>A" "r.(?)" "p.(Thr224=)" "6"
"0000779015" "00001847" "70" "614" "0" "614" "0" "c.614G>A" "r.(?)" "p.(Cys205Tyr)" "6"
"0000779016" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000779017" "00001847" "70" "2300" "0" "2300" "0" "c.2300T>A" "r.(?)" "p.(Val767Asp)" "15"
"0000779018" "00001847" "50" "4092" "0" "4092" "0" "c.4092A>C" "r.(?)" "p.(Gln1364His)" "27"
"0000779019" "00001847" "50" "4480" "0" "4480" "0" "c.4480G>A" "r.(?)" "p.(Glu1494Lys)" "30"
"0000779020" "00001847" "70" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.[=,5196_5197ins5196+1140_5196+1212]" "p.[=,Met1733Glufs*78]" "36i"
"0000779021" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000779022" "00001847" "70" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" "44"
"0000779023" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000779024" "00001847" "50" "466" "0" "466" "0" "c.466A>G" "r.(?)" "p.(Ile156Val)" "5"
"0000779025" "00001847" "70" "4773" "0" "4773" "0" "c.4773G>C" "r.[4668_5018del,4668_4773del]" "p.(Tyr1557_Val1673del,Tyr1557Alafs*18)" "33"
"0000779026" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000779027" "00001847" "70" "859" "-9" "859" "-9" "c.859-9T>C" "r.[=,859_1356del]" "p.[=,Phe287_Arg452del]" "7i"
"0000779028" "00001847" "70" "4538" "0" "4538" "0" "c.4538A>G" "r.[4539_4540ins4540+1_4530+30,4467_4539del]" "p.(Arg1513_Arg1514ins10,Cys1490Glufs*12)" "30"
"0000779029" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000779030" "00001847" "70" "2897" "0" "2897" "0" "c.2897G>A" "r.(?)" "p.(Gly966Glu)" "19"
"0000779031" "00001847" "90" "6118" "0" "6118" "0" "c.6118C>T" "r.(?)" "p.(Arg2040*)" "44"
"0000779032" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000779033" "00001847" "50" "6148" "0" "6148" "0" "c.6148G>C" "r.=" "p.(Val2050Leu)" "45"
"0000779034" "00001847" "70" "5824" "0" "5824" "0" "c.5824G>C" "r.(?)" "p.(Glu1942Gln)" "41"
"0000779035" "00001847" "50" "6148" "0" "6148" "0" "c.6148G>C" "r.=" "p.(Val2050Leu)" "45"
"0000779036" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000779037" "00001847" "90" "1561" "0" "1561" "0" "c.1561del" "r.(?)" "p.(Val521Serfs*47)" "12"
"0000779038" "00001847" "90" "42" "0" "48" "0" "c.42_48delinsAG" "r.(?)" "p.(Asn14Lysfs*38)" "1"
"0000779039" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000779040" "00001847" "50" "4532" "0" "4532" "0" "c.4532C>G" "r.(?)" "p.(Pro1511Arg)" "30"
"0000779041" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000779042" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000779043" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000779044" "00001847" "70" "3670" "0" "3670" "0" "c.3670T>G" "r.(?)" "p.(Cys1224Gly)" "25"
"0000779045" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000779046" "00001847" "50" "2877" "0" "2877" "0" "c.2877C>T" "r.(?)" "p.(Thr959=)" "19"
"0000779047" "00001847" "70" "3840" "0" "3845" "0" "c.3840_3845del" "r.(?)" "p.(Asp1281_Ser1282del)" "26"
"0000779048" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000779049" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000779050" "00001847" "50" "2161" "-6" "2161" "-6" "c.2161-6T>C" "r.(?)" "p.(?)" "14i"
"0000779051" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000779052" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000779053" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000779054" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000779055" "00001847" "70" "5527" "0" "5527" "0" "c.5527C>T" "r.(?)" "p.(Arg1843Trp)" "39"
"0000779056" "00001847" "90" "5018" "5" "5018" "5" "c.5018+5G>A" "r.4849_5018del" "p.(Val1617Alafs*113)" "35i"
"0000779057" "00001847" "70" "1283" "0" "1283" "0" "c.1283T>A" "r.(?)" "p.(Val428Asp)" "10"
"0000779058" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000779059" "00001847" "70" "6193" "0" "6193" "0" "c.6193G>C" "r.(?)" "p.(Asp2065His)" "45"
"0000779060" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000779061" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000779062" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000779063" "00001847" "70" "2915" "0" "2915" "0" "c.2915C>T" "r.(?)" "p.(Thr972Ile)" "19"
"0000779064" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000779065" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000779066" "00001847" "50" "1411" "0" "1411" "0" "c.1411G>A" "r.(?)" "p.(Glu471Lys)" "11"
"0000779067" "00001847" "90" "2587" "2" "2587" "2" "c.2587+2T>C" "r.spl" "p.?" "16i"
"0000779068" "00001847" "90" "1344" "0" "1344" "0" "c.1344del" "r.(?)" "p.(Met448Ilefs*3)" "10"
"0000779069" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000779070" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000779071" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000779072" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000779073" "00001847" "90" "3259" "0" "3259" "0" "c.3259G>A" "r.(?)" "p.(Glu1087Lys)" "22"
"0000779074" "00001847" "90" "3898" "0" "3898" "0" "c.3898C>T" "r.(?)" "p.(Arg1300*)" "27"
"0000779075" "00001847" "90" "3259" "0" "3259" "0" "c.3259G>A" "r.(?)" "p.(Glu1087Lys)" "22"
"0000779076" "00001847" "70" "3840" "0" "3845" "0" "c.3840_3845del" "r.(?)" "p.(Asp1281_Ser1282del)" "26"
"0000779077" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000779078" "00001847" "70" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.[=,5196_5197ins5196+1140_5196+1212]" "p.[=,Met1733Glufs*78]" "36i"
"0000779079" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000779080" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000779081" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000779082" "00001847" "50" "4771" "0" "4771" "0" "c.4771G>A" "r.(?)" "p.(Gly1591Arg)" "33"
"0000779083" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000779084" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000779085" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000779086" "00001847" "50" "5462" "0" "5462" "0" "c.5462C>T" "r.(?)" "p.(Thr1821Met)" "39"
"0000779087" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000779088" "00001847" "90" "4848" "1" "4848" "1" "c.4848+1G>A" "r.spl" "p.?" "34i"
"0000779089" "00001847" "50" "371" "0" "371" "0" "c.371G>A" "r.(?)" "p.(Arg124His)" "4"
"0000779090" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000779091" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000779092" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000779093" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000779094" "00001847" "90" "6088" "0" "6088" "0" "c.6088C>T" "r.(?)" "p.(Arg2030*)" "44"
"0000779095" "00001847" "70" "428" "0" "428" "0" "c.428C>T" "r.(?)" "p.(Pro143Leu)" "4"
"0000779096" "00001847" "70" "1243" "0" "1243" "0" "c.1243A>G" "r.(?)" "p.(Asn415Asp)" "10"
"0000779097" "00001847" "90" "885" "0" "885" "0" "c.885del" "r.(?)" "p.(Leu296Cysfs*4)" "8"
"0000779098" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000779099" "00001847" "50" "4342" "0" "4342" "0" "c.4342G>A" "r.(?)" "p.(Gly1448Arg)" "29"
"0000779100" "00001847" "70" "4793" "0" "4793" "0" "c.4793C>A" "r.(?)" "p.(Ala1598Asp)" "34"
"0000779101" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000779102" "00001847" "70" "6229" "0" "6229" "0" "c.6229C>G" "r.(?)" "p.(Arg2077Gly)" "45"
"0000779103" "00001847" "90" "6286" "0" "6286" "0" "c.6286G>A" "r.(?)" "p.(Glu2096Lys)" "46"
"0000779104" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000779105" "00001847" "90" "666" "0" "678" "0" "c.666_678del" "r.(?)" "p.(Lys223Metfs*14)" "6"
"0000779106" "00001847" "90" "0" "0" "0" "0" "c.(2160+1_2161-1)_(2653+1_2654-1)" "r.(?)" "p.(?)" "14i_17i"
"0000779107" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000779108" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000779109" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000779110" "00001847" "70" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" "31"
"0000779111" "00001847" "70" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" "31"
"0000779112" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000779113" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000779114" "00001847" "70" "6698" "0" "6698" "0" "c.6698A>T" "r.(?)" "p.(Glu2233Val)" "48"
"0000779115" "00001847" "70" "2948" "0" "2948" "0" "c.2948C>T" "r.(?)" "p.(Thr983Ile)" "20"
"0000779116" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000779117" "00001847" "70" "4253" "4" "4253" "4" "c.4253+4C>T" "r.4129_4253del" "p.(Ile1377Hisfs*3)" "28i"
"0000779118" "00001847" "70" "618" "0" "618" "0" "c.618C>G" "r.(?)" "p.(Ser206Arg)" "6"
"0000779119" "00001847" "90" "3259" "0" "3259" "0" "c.3259G>A" "r.(?)" "p.(Glu1087Lys)" "22"
"0000779120" "00001847" "90" "4537" "0" "4537" "0" "c.4537del" "r.(?)" "p.(Gln1513Argfs*13)" "30"
"0000779121" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000779122" "00001847" "30" "4203" "0" "4203" "0" "c.4203C>A" "r.(?)" "p.(=)" "28"
"0000779123" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000779124" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000779125" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000779126" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000779127" "00001847" "90" "4383" "0" "4383" "0" "c.4383G>A" "r.(?)" "p.(Trp1461*)" "30"
"0000779128" "00001847" "70" "4661" "0" "4661" "0" "c.4661A>G" "r.(?)" "p.(Glu1554Gly)" "32"
"0000779129" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000779130" "00001847" "90" "3819" "0" "3819" "0" "c.3819dup" "r.(?)" "p.(Leu1274Serfs*8)" "26"
"0000779131" "00001847" "50" "4283" "0" "4283" "0" "c.4283C>T" "r.(?)" "p.(Thr1428Met)" "29"
"0000779132" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000779133" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000779134" "00001847" "30" "4203" "0" "4203" "0" "c.4203C>A" "r.(?)" "p.(=)" "28"
"0000779135" "00001847" "90" "5898" "1" "5898" "1" "c.5898+1G>A" "r.spl" "p.?" "42i"
"0000779136" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000779137" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000779138" "00001847" "50" "6190" "0" "6190" "0" "c.6190G>A" "r.(?)" "p.(Ala2064Thr)" "45"
"0000779139" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000779140" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000779141" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000779142" "00001847" "30" "4203" "0" "4203" "0" "c.4203C>A" "r.(?)" "p.(=)" "28"
"0000779143" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000779144" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000779145" "00001847" "70" "6176" "0" "6176" "0" "c.6176G>A" "r.(?)" "p.(Gly2059Asp)" "45"
"0000779146" "00001847" "70" "661" "0" "661" "0" "c.661G>A" "r.(?)" "p.(Gly221Arg)" "6"
"0000779147" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000779148" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000779149" "00001847" "50" "5138" "0" "5138" "0" "c.5138A>G" "r.(?)" "p.(Gln1713Arg)" "36"
"0000779150" "00001847" "70" "4253" "4" "4253" "4" "c.4253+4C>T" "r.4129_4253del" "p.(Ile1377Hisfs*3)" "28i"
"0000779151" "00001847" "50" "5138" "0" "5138" "0" "c.5138A>G" "r.(?)" "p.(Gln1713Arg)" "36"
"0000779152" "00001847" "70" "5137" "0" "5137" "0" "c.5137C>A" "r.(?)" "p.(Gln1713Lys)" "36"
"0000779153" "00001847" "30" "4203" "0" "4203" "0" "c.4203C>A" "r.(?)" "p.(=)" "28"
"0000779154" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000779155" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000779156" "00001847" "90" "3403" "0" "3403" "0" "c.3403C>T" "r.(?)" "p.(Gln1135*)" "23"
"0000779157" "00001847" "50" "4771" "0" "4771" "0" "c.4771G>A" "r.(?)" "p.(Gly1591Arg)" "33"
"0000779158" "00001847" "50" "455" "0" "455" "0" "c.455G>A" "r.(?)" "p.(Arg152Gln)" "5"
"0000779159" "00001847" "70" "161" "0" "161" "0" "c.161G>A" "r.[161_302del,161g>a]" "p.[Cys54Serfs*14,Cys54Tyr]" "3"
"0000779160" "00001847" "30" "4203" "0" "4203" "0" "c.4203C>A" "r.(?)" "p.(=)" "28"
"0000779161" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000779162" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000779163" "00001847" "70" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" "35"
"0000779164" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000779165" "00001847" "30" "4203" "0" "4203" "0" "c.4203C>A" "r.(?)" "p.(=)" "28"
"0000779166" "00001847" "50" "5585" "-10" "5585" "-10" "c.5585-10T>C" "r.=" "p.(=)" "39i"
"0000779167" "00001847" "90" "1937" "1" "1937" "1" "c.1937+1G>C" "r.spl" "p.?" "13i"
"0000779168" "00001847" "30" "4203" "0" "4203" "0" "c.4203C>A" "r.(?)" "p.(=)" "28"
"0000779169" "00001847" "70" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" "44"
"0000779170" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000779171" "00001847" "30" "4203" "0" "4203" "0" "c.4203C>A" "r.(?)" "p.(=)" "28"
"0000779172" "00001847" "90" "5196" "1" "5196" "1" "c.5196+1G>A" "r.spl" "p.?" "36i"
"0000779173" "00001847" "10" "3602" "0" "3602" "0" "c.3602T>G" "r.(?)" "p.(Leu1201Arg)" "24"
"0000779174" "00001847" "70" "1927" "0" "1927" "0" "c.1927G>A" "r.(?)" "p.(Val643Met)" "13"
"0000779175" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000779176" "00001847" "70" "1015" "0" "1015" "0" "c.1015T>G" "r.(?)" "p.(Trp339Gly)" "8"
"0000779177" "00001847" "70" "5084" "0" "5084" "0" "c.5084C>A" "r.(?)" "p.(Ala1695Asp)" "36"
"0000779178" "00001847" "70" "3364" "0" "3364" "0" "c.3364G>A" "r.(?)" "p.(Glu1122Lys)" "23"
"0000779179" "00001847" "90" "3328" "2" "3328" "2" "c.3328+2T>A" "r.spl" "p.?" "22i"
"0000779180" "00001847" "70" "4568" "0" "4568" "0" "c.4568A>G" "r.(?)" "p.(Gln1523Arg)" "31"
"0000779181" "00001847" "10" "3899" "0" "3899" "0" "c.3899G>A" "r.(?)" "p.(Arg1300Gln)" "27"
"0000779182" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000779183" "00001847" "70" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" "35"
"0000779184" "00001847" "70" "2300" "0" "2300" "0" "c.2300T>A" "r.(?)" "p.(Val767Asp)" "15"
"0000779185" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000779186" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000779187" "00001847" "70" "6306" "0" "6306" "0" "c.6306C>A" "r.(?)" "p.(Asp2102Glu)" "46"
"0000779188" "00001847" "70" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" "31"
"0000779189" "00001847" "30" "4203" "0" "4203" "0" "c.4203C>A" "r.(?)" "p.(=)" "28"
"0000779190" "00001847" "30" "4203" "0" "4203" "0" "c.4203C>A" "r.(?)" "p.(=)" "28"
"0000779191" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000779192" "00001847" "50" "5642" "0" "5642" "0" "c.5642C>T" "r.(?)" "p.(Ala1881Val)" "40"
"0000779193" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000779194" "00001847" "50" "658" "0" "658" "0" "c.658C>T" "r.(?)" "p.(Arg220Cys)" "6"
"0000779195" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000779196" "00001847" "70" "1715" "0" "1715" "0" "c.1715G>A" "r.(?)" "p.(Arg572Gln)" "12"
"0000779197" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000779198" "00001847" "70" "3323" "0" "3323" "0" "c.3323G>A" "r.(?)" "p.(Arg1108His)" "22"
"0000779199" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000779200" "00001847" "30" "4203" "0" "4203" "0" "c.4203C>A" "r.(?)" "p.(=)" "28"
"0000779201" "00001847" "90" "4848" "1" "4848" "1" "c.4848+1G>A" "r.spl" "p.?" "34i"
"0000779202" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.[(768g>u;768_769ins768+1_768+35)]" "p.(Leu257Valfs*17)" "6"
"0000779203" "00001847" "70" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" "31"
"0000779204" "00001847" "90" "6107" "0" "6107" "0" "c.6107delinsTT" "r.(?)" "p.(Tyr2036Phefs*21)" "44"
"0000779205" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000779206" "00001847" "70" "2915" "0" "2915" "0" "c.2915C>A" "r.(?)" "p.(Thr972Asn)" "19"
"0000779207" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000779208" "00001847" "90" "2099" "0" "2099" "0" "c.2099G>A" "r.(?)" "p.(Trp700*)" "14"
"0000779209" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000779210" "00001847" "90" "4924" "0" "4927" "0" "c.4924_4927del" "r.(?)" "p.(Ser1642Cysfs*19)" "35"
"0000779211" "00001847" "70" "5645" "0" "5645" "0" "c.5645T>C" "r.(?)" "p.(Met1882Thr)" "40"
"0000779212" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000779213" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000779214" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000779215" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000779216" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000779217" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000779218" "00001847" "90" "3259" "0" "3259" "0" "c.3259G>A" "r.(?)" "p.(Glu1087Lys)" "22"
"0000779219" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000779220" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000779221" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000779222" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000779223" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000779224" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000779225" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000779226" "00001847" "50" "3758" "0" "3758" "0" "c.3758C>T" "r.(?)" "p.(Thr1253Met)" "25"
"0000779227" "00001847" "70" "4793" "0" "4793" "0" "c.4793C>A" "r.(?)" "p.(Ala1598Asp)" "34"
"0000779228" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000779229" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000779230" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000779231" "00001847" "70" "6449" "0" "6449" "0" "c.6449G>A" "r.(?)" "p.(Cys2150Tyr)" "47"
"0000779232" "00001847" "70" "53" "0" "53" "0" "c.53G>A" "r.(?)" "p.(Arg18Gln)" "1"
"0000779233" "00001847" "70" "5318" "0" "5318" "0" "c.5318C>T" "r.(?)" "p.(Ala1773Val)" "38"
"0000779234" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000779235" "00001847" "30" "4203" "0" "4203" "0" "c.4203C>A" "r.(?)" "p.(=)" "28"
"0000779236" "00001847" "70" "5318" "0" "5318" "0" "c.5318C>T" "r.(?)" "p.(Ala1773Val)" "38"
"0000779237" "00001847" "70" "5318" "0" "5318" "0" "c.5318C>T" "r.(?)" "p.(Ala1773Val)" "38"
"0000779238" "00001847" "90" "666" "0" "678" "0" "c.666_678del" "r.(?)" "p.(Lys223Metfs*14)" "6"
"0000779239" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000779240" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000779241" "00001847" "30" "4203" "0" "4203" "0" "c.4203C>A" "r.(?)" "p.(=)" "28"
"0000779242" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000779243" "00001847" "70" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" "44"
"0000779244" "00001847" "90" "3056" "0" "3056" "0" "c.3056C>T" "r.(?)" "p.(Thr1019Met)" "21"
"0000779245" "00001847" "90" "488" "0" "491" "0" "c.488_491del" "r.(?)" "p.(Leu163Hisfs*18)" "5"
"0000779246" "00001847" "90" "3292" "0" "3292" "0" "c.3292C>T" "r.(?)" "p.(Arg1098Cys)" "22"
"0000779247" "00001847" "90" "6658" "0" "6658" "0" "c.6658C>T" "r.(?)" "p.(Gln2220*)" "48"
"0000779248" "00001847" "70" "161" "0" "161" "0" "c.161G>A" "r.[161_302del,161g>a]" "p.[Cys54Serfs*14,Cys54Tyr]" "3"
"0000779249" "00001847" "70" "156" "0" "156" "0" "c.156T>G" "r.(?)" "p.(His52Gln)" "2"
"0000779250" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000779251" "00001847" "50" "4926" "0" "4926" "0" "c.4926C>G" "r.(?)" "p.(Ser1642Arg)" "35"
"0000779252" "00001847" "70" "5044" "0" "5058" "0" "c.5044_5058del" "r.(?)" "p.(Val1682_Val1686del)" "36"
"0000779253" "00001847" "30" "3468" "0" "3468" "0" "c.3468C>T" "r.(?)" "p.(Tyr1156=)" "23"
"0000779254" "00001847" "90" "3819" "0" "3819" "0" "c.3819dup" "r.(?)" "p.(Leu1274Serfs*8)" "26"
"0000779255" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000779256" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000779257" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000779258" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000779259" "00001847" "70" "1927" "0" "1927" "0" "c.1927G>A" "r.(?)" "p.(Val643Met)" "13"
"0000779260" "00001847" "90" "1937" "1" "1937" "1" "c.1937+1G>C" "r.spl" "p.?" "13i"
"0000779261" "00001847" "70" "4454" "0" "4454" "0" "c.4454C>T" "r.(?)" "p.(Ser1485Leu)" "30"
"0000779262" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000779263" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000779264" "00001847" "30" "4203" "0" "4203" "0" "c.4203C>A" "r.(?)" "p.(=)" "28"
"0000779265" "00001847" "90" "4849" "-1" "4849" "-1" "c.4849-1G>A" "r.spl" "p.?" "34i"
"0000779266" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000779267" "00001847" "90" "1086" "0" "1086" "0" "c.1086T>A" "r.(?)" "p.(Tyr362*)" "8"
"0000779268" "00001847" "70" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" "31"
"0000779269" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000779270" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000779271" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000779272" "00001847" "70" "4319" "0" "4319" "0" "c.4319T>C" "r.(?)" "p.(Phe1440Ser)" "29"
"0000779273" "00001847" "50" "237" "0" "237" "0" "c.237T>C" "r.(?)" "p.(Asn79=)" "3"
"0000779274" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000779275" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000779276" "00001847" "90" "5337" "0" "5337" "0" "c.5337C>G" "r.(?)" "p.(Tyr1779*)" "38"
"0000779277" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000779278" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000779279" "00001847" "70" "6317" "0" "6317" "0" "c.6317G>A" "r.(?)" "p.(Arg2106His)" "46"
"0000779280" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000779281" "00001847" "90" "2971" "0" "2971" "0" "c.2971G>C" "r.(?)" "p.(Gly991Arg)" "20"
"0000779282" "00001847" "70" "3050" "5" "3050" "5" "c.3050+5G>A" "r.2919_3050del" "p.(Leu973_His1017delinsPhe)" "20i"
"0000779283" "00001847" "70" "1610" "0" "1610" "0" "c.1610G>A" "r.(?)" "p.(Arg537His)" "12"
"0000779284" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000779285" "00001847" "70" "956" "0" "956" "0" "c.956T>G" "r.(?)" "p.(Leu319Arg)" "8"
"0000779286" "00001847" "70" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" "31"
"0000779287" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000779288" "00001847" "90" "6088" "0" "6088" "0" "c.6088C>T" "r.(?)" "p.(Arg2030*)" "44"
"0000779289" "00001847" "50" "5932" "0" "5932" "0" "c.5932A>G" "r.(?)" "p.(Lys1978Glu)" "43"
"0000779290" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000779291" "00001847" "70" "4319" "0" "4319" "0" "c.4319T>C" "r.(?)" "p.(Phe1440Ser)" "29"
"0000779292" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000779293" "00001847" "70" "4748" "0" "4748" "0" "c.4748T>C" "r.(?)" "p.(Leu1583Pro)" "33"
"0000779294" "00001847" "50" "3413" "0" "3413" "0" "c.3413T>C" "r.(?)" "p.(Leu1138Pro)" "23"
"0000779295" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000779296" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000779297" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000779298" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000779299" "00001847" "70" "618" "0" "618" "0" "c.618C>G" "r.(?)" "p.(Ser206Arg)" "6"
"0000779300" "00001847" "70" "1267" "0" "1267" "0" "c.1267C>T" "r.(?)" "p.(His423Tyr)" "10"
"0000779301" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000779302" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000779303" "00001847" "90" "5196" "1" "5196" "1" "c.5196+1G>A" "r.spl" "p.?" "36i"
"0000779304" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000779305" "00001847" "50" "2701" "0" "2701" "0" "c.2701A>G" "r.(?)" "p.(Thr901Ala)" "18"
"0000779306" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000779307" "00001847" "70" "2341" "0" "2341" "0" "c.2341G>A" "r.(?)" "p.(Ala781Thr)" "15"
"0000779308" "00001847" "90" "6118" "0" "6118" "0" "c.6118C>T" "r.(?)" "p.(Arg2040*)" "44"
"0000779309" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000779310" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000779311" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.[(768g>u;768_769ins768+1_768+35)]" "p.(Leu257Valfs*17)" "6"
"0000779312" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000779313" "00001847" "70" "4327" "0" "4327" "0" "c.4327C>T" "r.(?)" "p.(Arg1443Cys)" "29"
"0000779314" "00001847" "70" "95" "0" "95" "0" "c.95C>T" "r.(?)" "p.(Pro32Leu)" "2"
"0000779315" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000779316" "00001847" "70" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" "31"
"0000779317" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000779318" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000779319" "00001847" "50" "4926" "0" "4926" "0" "c.4926C>G" "r.(?)" "p.(Ser1642Arg)" "35"
"0000779320" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000779321" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000779322" "00001847" "70" "618" "0" "618" "0" "c.618C>G" "r.(?)" "p.(Ser206Arg)" "6"
"0000779323" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000779324" "00001847" "50" "4954" "0" "4954" "0" "c.4954T>G" "r.(?)" "p.(Tyr1652Asp)" "35"
"0000779325" "00001847" "90" "4734" "0" "4739" "0" "c.4734_4739delinsCC" "r.(?)" "p.(Phe1579Glnfs*8)" "33"
"0000779326" "00001847" "90" "4849" "-1" "4849" "-1" "c.4849-1G>A" "r.spl" "p.?" "34i"
"0000779327" "00001847" "70" "4463" "0" "4463" "0" "c.4463G>A" "r.(?)" "p.(Cys1488Tyr)" "30"
"0000779328" "00001847" "70" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" "31"
"0000779329" "00001847" "70" "3064" "0" "3064" "0" "c.3064G>A" "r.(?)" "p.(Glu1022Lys)" "21"
"0000779330" "00001847" "70" "1460" "0" "1460" "0" "c.1460G>A" "r.(?)" "p.(Arg487Gln)" "11"
"0000779331" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000779332" "00001847" "70" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" "35"
"0000779333" "00001847" "70" "4222" "0" "4222" "0" "c.4222T>C" "r.(?)" "p.(Trp1408Arg)" "28"
"0000779334" "00001847" "70" "2920" "0" "2920" "0" "c.2920T>C" "r.(?)" "p.(Ser974Pro)" "20"
"0000779335" "00001847" "50" "574" "0" "574" "0" "c.574G>A" "r.(?)" "p.(Ala192Thr)" "6"
"0000779336" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000779337" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000779338" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000779339" "00001847" "70" "161" "0" "161" "0" "c.161G>A" "r.[161_302del,161g>a]" "p.[Cys54Serfs*14,Cys54Tyr]" "3"
"0000779340" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000779341" "00001847" "90" "1317" "0" "1317" "0" "c.1317G>A" "r.(?)" "p.(Trp439*)" "10"
"0000779342" "00001847" "50" "656" "0" "656" "0" "c.656G>C" "r.(?)" "p.(Arg219Thr)" "6"
"0000779343" "00001847" "90" "1317" "0" "1317" "0" "c.1317G>A" "r.(?)" "p.(Trp439*)" "10"
"0000779344" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000779345" "00001847" "90" "1317" "0" "1317" "0" "c.1317G>A" "r.(?)" "p.(Trp439*)" "10"
"0000779346" "00001847" "90" "1317" "0" "1317" "0" "c.1317G>A" "r.(?)" "p.(Trp439*)" "10"
"0000779347" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000779348" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000779349" "00001847" "70" "223" "0" "223" "0" "c.223T>G" "r.(?)" "p.(Cys75Gly)" "3"
"0000779350" "00001847" "50" "2690" "0" "2690" "0" "c.2690C>T" "r.(?)" "p.(Thr897Ile)" "18"
"0000779351" "00001847" "90" "45" "0" "45" "0" "c.45G>A" "r.(?)" "p.(Trp15*)" "1"
"0000779352" "00001847" "70" "6006" "-16" "6006" "-16" "c.6006-16G>A" "r.spl?" "p.(?)" "43i"
"0000779353" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.[(768g>u;768_769ins768+1_768+35)]" "p.(Leu257Valfs*17)" "6"
"0000779354" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000779355" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000779356" "00001847" "70" "926" "0" "926" "0" "c.926C>G" "r.(?)" "p.(Pro309Arg)" "8"
"0000779357" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000779358" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000779359" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000779360" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000779361" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000779362" "00001847" "50" "5413" "0" "5413" "0" "c.5413A>G" "r.(?)" "p.(Asn1805Asp)" "38"
"0000779363" "00001847" "90" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071Cysfs*14)" "22"
"0000779364" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000779365" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000779366" "00001847" "70" "3385" "0" "3385" "0" "c.3385C>T" "r.(?)" "p.(Arg1129Cys)" "23"
"0000779367" "00001847" "70" "194" "0" "194" "0" "c.194G>A" "r.(?)" "p.(Gly65Glu)" "3"
"0000779368" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000779369" "00001847" "50" "6148" "0" "6148" "0" "c.6148G>C" "r.=" "p.(Val2050Leu)" "45"
"0000779370" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000779371" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000779372" "00001847" "10" "3602" "0" "3602" "0" "c.3602T>G" "r.(?)" "p.(Leu1201Arg)" "24"
"0000779373" "00001847" "70" "1927" "0" "1927" "0" "c.1927G>A" "r.(?)" "p.(Val643Met)" "13"
"0000779374" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000779375" "00001847" "90" "6238" "0" "6239" "0" "c.6238_6239del" "r.(?)" "p.(Ser2080Hisfs*16)" "45"
"0000779376" "00001847" "90" "6316" "0" "6316" "0" "c.6316C>T" "r.(?)" "p.(Arg2106Cys)" "46"
"0000779377" "00001847" "50" "2546" "0" "2546" "0" "c.2546T>C" "r.(?)" "p.(Val849Ala)" "16"
"0000779378" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000779379" "00001847" "50" "4685" "0" "4685" "0" "c.4685T>C" "r.(?)" "p.(Ile1562Thr)" "33"
"0000779380" "00001847" "90" "3056" "0" "3056" "0" "c.3056C>T" "r.(?)" "p.(Thr1019Met)" "21"
"0000779381" "00001847" "70" "4556" "0" "4556" "0" "c.4556C>T" "r.(?)" "p.(Thr1519Met)" "31"
"0000779382" "00001847" "50" "2852" "0" "2852" "0" "c.2852T>C" "r.(?)" "p.(Ile951Thr)" "19"
"0000779383" "00001847" "70" "4556" "0" "4556" "0" "c.4556C>T" "r.(?)" "p.(Thr1519Met)" "31"
"0000779384" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000779385" "00001847" "90" "2971" "0" "2971" "0" "c.2971G>C" "r.(?)" "p.(Gly991Arg)" "20"
"0000779386" "00001847" "50" "6721" "0" "6721" "0" "c.6721C>G" "r.(?)" "p.(Leu2241Val)" "48"
"0000779387" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000779388" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000779389" "00001847" "70" "4222" "0" "4222" "0" "c.4222T>C" "r.(?)" "p.(Trp1408Arg)" "28"
"0000779390" "00001847" "90" "3403" "0" "3403" "0" "c.3403C>T" "r.(?)" "p.(Gln1135*)" "23"
"0000779391" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000779392" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000779393" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000779394" "00001847" "90" "4537" "0" "4537" "0" "c.4537dup" "r.(?)" "p.(Gln1513Profs*42)" "30"
"0000779395" "00001847" "90" "6118" "0" "6118" "0" "c.6118C>T" "r.(?)" "p.(Arg2040*)" "44"
"0000779396" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000779397" "00001847" "70" "6647" "0" "6647" "0" "c.6647C>T" "r.(?)" "p.(Ala2216Val)" "48"
"0000779398" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000779399" "00001847" "50" "6721" "0" "6721" "0" "c.6721C>G" "r.(?)" "p.(Leu2241Val)" "48"
"0000779400" "00001847" "90" "4880" "0" "4880" "0" "c.4880del" "r.(?)" "p.(Leu1627Argfs*35)" "35"
"0000779401" "00001847" "90" "1819" "0" "1819" "0" "c.1819G>A" "r.(?)" "p.(Gly607Arg)" "13"
"0000779402" "00001847" "90" "5018" "2" "5018" "2" "c.5018+2T>A" "r.spl" "p.?" "35i"
"0000779403" "00001847" "90" "3056" "0" "3056" "0" "c.3056C>T" "r.(?)" "p.(Thr1019Met)" "21"
"0000779404" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000779405" "00001847" "70" "3305" "0" "3305" "0" "c.3305A>C" "r.(?)" "p.(Asp1102Ala)" "22"
"0000779406" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000779407" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000779408" "00001847" "90" "6189" "0" "6189" "0" "c.6189C>A" "r.(?)" "p.(Tyr2063*)" "45"
"0000779409" "00001847" "70" "5318" "0" "5318" "0" "c.5318C>T" "r.(?)" "p.(Ala1773Val)" "38"
"0000779410" "00001847" "90" "92" "0" "92" "0" "c.92G>A" "r.(?)" "p.(Trp31*)" "2"
"0000779411" "00001847" "70" "37" "0" "37" "0" "c.37A>G" "r.(?)" "p.(Lys13Gly)" "1"
"0000779412" "00001847" "90" "4111" "0" "4111" "0" "c.4111A>T" "r.(?)" "p.(Lys1371*)" "27"
"0000779413" "00001847" "70" "6391" "0" "6391" "0" "c.6391G>A" "r.(?)" "p.(Glu2131Lys)" "47"
"0000779414" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000779415" "00001847" "30" "4203" "0" "4203" "0" "c.4203C>A" "r.(?)" "p.(=)" "28"
"0000779416" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000779417" "00001847" "70" "4919" "0" "4919" "0" "c.4919G>A" "r.(?)" "p.(Arg1640Gln)" "35"
"0000779418" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000779419" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000779420" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000779421" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000779422" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000779423" "00001847" "70" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" "44"
"0000779424" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000779425" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000779426" "00001847" "90" "4537" "0" "4537" "0" "c.4537dup" "r.(?)" "p.(Gln1513Profs*42)" "30"
"0000779427" "00001847" "50" "5056" "0" "5056" "0" "c.5056G>A" "r.(?)" "p.(Val1686Met)" "36"
"0000779428" "00001847" "30" "4503" "0" "4503" "0" "c.4503G>C" "r.(?)" "p.(Glu1501Asp)" "30"
"0000779429" "00001847" "10" "3602" "0" "3602" "0" "c.3602T>G" "r.(?)" "p.(Leu1201Arg)" "24"
"0000779430" "00001847" "70" "4594" "0" "4594" "0" "c.4594G>A" "r.(?)" "p.(Asp1532Asn)" "31"
"0000779431" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000779432" "00001847" "90" "6816" "1" "6816" "1" "c.6816+1G>A" "r.spl" "p.?" "49i"
"0000779433" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000779434" "00001847" "90" "2971" "0" "2971" "0" "c.2971G>C" "r.(?)" "p.(Gly991Arg)" "20"
"0000779435" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000779436" "00001847" "70" "4222" "0" "4222" "0" "c.4222T>C" "r.(?)" "p.(Trp1408Arg)" "28"
"0000779437" "00001847" "70" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" "35"
"0000779438" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000779439" "00001847" "90" "3898" "0" "3898" "0" "c.3898C>T" "r.(?)" "p.(Arg1300*)" "27"
"0000779440" "00001847" "90" "1957" "0" "1957" "0" "c.1957C>T" "r.(?)" "p.(Arg653Cys)" "14"
"0000779441" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000779442" "00001847" "70" "4463" "0" "4463" "0" "c.4463G>A" "r.(?)" "p.(Cys1488Tyr)" "30"
"0000779443" "00001847" "70" "2079" "0" "2079" "0" "c.2079T>G" "r.(?)" "p.(Asn693Lys)" "14"
"0000779444" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000779445" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000779446" "00001847" "70" "6221" "0" "6221" "0" "c.6221G>A" "r.(?)" "p.(Gly2074Asp)" "45"
"0000779447" "00001847" "70" "1510" "0" "1510" "0" "c.1510A>C" "r.(?)" "p.(Asn504His)" "11"
"0000779448" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000779449" "00001847" "70" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" "35"
"0000779450" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000779451" "00001847" "70" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" "31"
"0000779452" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.[(768g>u;768_769ins768+1_768+35)]" "p.(Leu257Valfs*17)" "6"
"0000779453" "00001847" "70" "4253" "5" "4253" "5" "c.4253+5G>T" "r.[4129_4253del,=]" "p.[Ile1377Hisfs*3,=]" "28i"
"0000779454" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000779455" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000779456" "00001847" "90" "3403" "0" "3403" "0" "c.3403C>T" "r.(?)" "p.(Gln1135*)" "23"
"0000779457" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000779458" "00001847" "70" "6006" "-16" "6006" "-16" "c.6006-16G>A" "r.spl?" "p.(?)" "43i"
"0000779459" "00001847" "90" "1714" "0" "1714" "0" "c.1714C>T" "r.(?)" "p.(Arg572*)" "12"
"0000779460" "00001847" "70" "6221" "0" "6221" "0" "c.6221G>T" "r.(?)" "p.(Gly2074Val)" "45"
"0000779461" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000779462" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000779463" "00001847" "50" "2791" "0" "2791" "0" "c.2791G>A" "r.(?)" "p.(Val931Met)" "19"
"0000779464" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000779465" "00001847" "70" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" "35"
"0000779466" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000779467" "00001847" "70" "4222" "0" "4222" "0" "c.4222T>C" "r.(?)" "p.(Trp1408Arg)" "28"
"0000779468" "00001847" "70" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" "35"
"0000779469" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000779470" "00001847" "90" "3329" "-2" "3329" "-2" "c.3329-2A>G" "r.spl" "p.?" "22i"
"0000779471" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000779472" "00001847" "90" "3403" "0" "3403" "0" "c.3403C>T" "r.(?)" "p.(Gln1135*)" "23"
"0000779473" "00001847" "70" "926" "0" "926" "0" "c.926C>G" "r.(?)" "p.(Pro309Arg)" "8"
"0000779474" "00001847" "70" "6208" "0" "6209" "0" "c.6208_6209delinsCA" "r.(?)" "p.(Thr2070Gln)" "45"
"0000779475" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000779476" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000779477" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000779478" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000779479" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000779480" "00001847" "70" "4249" "0" "4251" "0" "c.4249_4251del" "r.(?)" "p.(Phe1417del)" "28"
"0000779481" "00001847" "70" "1531" "0" "1531" "0" "c.1531C>T" "r.(?)" "p.(Arg511Cys)" "11"
"0000779482" "00001847" "70" "5753" "0" "5753" "0" "c.5753A>G" "r.(?)" "p.(Asp1918Gly)" "41"
"0000779483" "00001847" "50" "5693" "0" "5693" "0" "c.5693G>A" "r.(?)" "p.(Arg1898His)" "40"
"0000779484" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000779485" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000779486" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000779487" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000779488" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000779489" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000779490" "00001847" "70" "1927" "0" "1927" "0" "c.1927G>A" "r.(?)" "p.(Val643Met)" "13"
"0000779491" "00001847" "70" "2782" "0" "2782" "0" "c.2782G>T" "r.(?)" "p.(Gly928Trp)" "19"
"0000779492" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000779493" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000779494" "00001847" "50" "5077" "0" "5077" "0" "c.5077G>A" "r.(?)" "p.(Val1693Ile)" "36"
"0000779495" "00001847" "90" "4640" "0" "4640" "0" "c.4640del" "r.(?)" "p.(Lys1547Argfs*34)" "32"
"0000779496" "00001847" "90" "4044" "0" "4044" "0" "c.4044dup" "r.(?)" "p.(Gln1349Thrfs*73)" "27"
"0000779497" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000779498" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000779499" "00001847" "90" "5172" "0" "5172" "0" "c.5172G>A" "r.(?)" "p.(Trp1724*)" "36"
"0000779500" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000779501" "00001847" "70" "3050" "5" "3050" "5" "c.3050+5G>A" "r.2919_3050del" "p.(Leu973_His1017delinsPhe)" "20i"
"0000779502" "00001847" "90" "5312" "1" "5312" "1" "c.5312+1G>A" "r.spl" "p.?" "37i"
"0000779503" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000779504" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000779505" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000779506" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000779507" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000779508" "00001847" "70" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" "35"
"0000779509" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000779510" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000779511" "00001847" "70" "1237" "0" "1237" "0" "c.1237A>T" "r.(?)" "p.(Asn413Tyr)" "9"
"0000779512" "00001847" "30" "4203" "0" "4203" "0" "c.4203C>A" "r.(?)" "p.(=)" "28"
"0000779513" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000779514" "00001847" "70" "3051" "-16" "3051" "-16" "c.3051-16T>A" "r.spl?" "p.(?)" "20i"
"0000779515" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000779516" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000779517" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000779518" "00001847" "70" "5447" "0" "5447" "0" "c.5447T>C" "r.(?)" "p.(Phe1816Ser)" "38"
"0000779519" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000779520" "00001847" "70" "4594" "0" "4594" "0" "c.4594G>A" "r.(?)" "p.(Asp1532Asn)" "31"
"0000779521" "00001847" "50" "455" "0" "455" "0" "c.455G>A" "r.(?)" "p.(Arg152Gln)" "5"
"0000779522" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000779523" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000779524" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000779525" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000779526" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000779527" "00001847" "90" "303" "-3" "303" "-3" "c.303-3C>G" "r.[161_302delins303-2_303-1,302_303ins302-2_302-1]" "p.[Cys54*,Leu102Alafs*14]" "3i"
"0000779528" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000779529" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000779530" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000779531" "00001847" "70" "3364" "0" "3364" "0" "c.3364G>A" "r.(?)" "p.(Glu1122Lys)" "23"
"0000779532" "00001847" "70" "4538" "0" "4538" "0" "c.4538A>G" "r.[4539_4540ins4540+1_4530+30,4467_4539del]" "p.(Arg1513_Arg1514ins10,Cys1490Glufs*12)" "30"
"0000779533" "00001847" "90" "564" "0" "564" "0" "c.564del" "r.(?)" "p.(Glu189Serfs*12)" "5"
"0000779534" "00001847" "70" "5311" "0" "5311" "0" "c.5311G>A" "r.(?)" "p.(Gly1771Arg)" "37"
"0000779535" "00001847" "70" "1610" "0" "1610" "0" "c.1610G>A" "r.(?)" "p.(Arg537His)" "12"
"0000779536" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000779537" "00001847" "70" "294" "0" "294" "0" "c.294C>G" "r.(?)" "p.(Asn98Lys)" "3"
"0000779538" "00001847" "70" "1609" "0" "1609" "0" "c.1609C>T" "r.(?)" "p.(Arg537Cys)" "12"
"0000779539" "00001847" "70" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" "35"
"0000779540" "00001847" "70" "5657" "0" "5657" "0" "c.5657G>A" "r.(?)" "p.(Gly1886Glu)" "40"
"0000779541" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000779542" "00001847" "50" "2337" "0" "2337" "0" "c.2337C>T" "r.(?)" "p.(Cys779=)" "15"
"0000779543" "00001847" "70" "161" "0" "161" "0" "c.161G>A" "r.[161_302del,161g>a]" "p.[Cys54Serfs*14,Cys54Tyr]" "3"
"0000779544" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000779545" "00001847" "70" "5318" "0" "5318" "0" "c.5318C>T" "r.(?)" "p.(Ala1773Val)" "38"
"0000779546" "00001847" "50" "677" "0" "677" "0" "c.677G>T" "r.(?)" "p.(Arg226Leu)" "6"
"0000779547" "00001847" "70" "3547" "0" "3547" "0" "c.3547G>T" "r.(?)" "p.(Gly1183Cys)" "24"
"0000779548" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000779549" "00001847" "50" "3758" "0" "3758" "0" "c.3758C>T" "r.(?)" "p.(Thr1253Met)" "25"
"0000779550" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000779551" "00001847" "70" "5572" "0" "5572" "0" "c.5572T>A" "r.(?)" "p.(Tyr1858Asn)" "39"
"0000779552" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000779553" "00001847" "70" "2399" "0" "2399" "0" "c.2399T>C" "r.(?)" "p.(Val800Ala)" "16"
"0000779554" "00001847" "90" "2966" "0" "2966" "0" "c.2966T>C" "r.(?)" "p.(Val989Ala)" "20"
"0000779555" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000779556" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000779557" "00001847" "90" "3259" "0" "3259" "0" "c.3259G>A" "r.(?)" "p.(Glu1087Lys)" "22"
"0000779558" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000779559" "00001847" "70" "4532" "0" "4532" "0" "c.4532C>A" "r.(?)" "p.(Pro1511His)" "30"
"0000779560" "00001847" "90" "4200" "0" "4200" "0" "c.4200C>A" "r.(?)" "p.(Tyr1400*)" "28"
"0000779561" "00001847" "70" "2647" "0" "2647" "0" "c.2647G>A" "r.(?)" "p.(Gly883Ser)" "17"
"0000779562" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000779563" "00001847" "70" "5214" "0" "5214" "0" "c.5214T>G" "r.(?)" "p.(Ser1738Arg)" "37"
"0000779564" "00001847" "70" "4457" "0" "4457" "0" "c.4457C>T" "r.(?)" "p.(Pro1486Leu)" "30"
"0000779565" "00001847" "70" "1927" "0" "1927" "0" "c.1927G>A" "r.(?)" "p.(Val643Met)" "13"
"0000779566" "00001847" "70" "5137" "0" "5138" "0" "c.5137_5138delinsAG" "r.(?)" "p.(Gln1713Arg)" "36"
"0000779567" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000779568" "00001847" "50" "5761" "0" "5761" "0" "c.5761G>A" "r.(?)" "p.(Val1921Met)" "41"
"0000779569" "00001847" "70" "6498" "0" "6498" "0" "c.6498C>G" "r.(?)" "p.(Ile2166Met)" "48"
"0000779570" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000779571" "00001847" "70" "6006" "-16" "6006" "-16" "c.6006-16G>A" "r.spl?" "p.(?)" "43i"
"0000779572" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000779573" "00001847" "50" "5693" "0" "5693" "0" "c.5693G>A" "r.(?)" "p.(Arg1898His)" "40"
"0000779574" "00001847" "50" "658" "0" "658" "0" "c.658C>T" "r.(?)" "p.(Arg220Cys)" "6"
"0000779575" "00001847" "70" "161" "0" "161" "0" "c.161G>A" "r.[161_302del,161g>a]" "p.[Cys54Serfs*14,Cys54Tyr]" "3"
"0000779576" "00001847" "90" "666" "0" "678" "0" "c.666_678del" "r.(?)" "p.(Lys223Metfs*14)" "6"
"0000779577" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000779578" "00001847" "10" "3602" "0" "3602" "0" "c.3602T>G" "r.(?)" "p.(Leu1201Arg)" "24"
"0000779579" "00001847" "30" "4203" "0" "4203" "0" "c.4203C>A" "r.(?)" "p.(=)" "28"
"0000779580" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000779581" "00001847" "90" "1086" "0" "1086" "0" "c.1086T>A" "r.(?)" "p.(Tyr362*)" "8"
"0000779582" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000779583" "00001847" "70" "161" "0" "161" "0" "c.161G>A" "r.[161_302del,161g>a]" "p.[Cys54Serfs*14,Cys54Tyr]" "3"
"0000779584" "00001847" "70" "6746" "0" "6746" "0" "c.6746C>A" "r.(?)" "p.(Ala2249Asp)" "49"
"0000779585" "00001847" "70" "2294" "0" "2294" "0" "c.2294G>C" "r.(?)" "p.(Ser765Thr)" "15"
"0000779586" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000779587" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000779588" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000779589" "00001847" "70" "5044" "0" "5058" "0" "c.5044_5058del" "r.(?)" "p.(Val1682_Val1686del)" "36"
"0000779590" "00001847" "90" "3329" "-2" "3329" "-2" "c.3329-2A>G" "r.spl" "p.?" "22i"
"0000779591" "00001847" "70" "5044" "0" "5058" "0" "c.5044_5058del" "r.(?)" "p.(Val1682_Val1686del)" "36"
"0000779592" "00001847" "90" "3329" "-2" "3329" "-2" "c.3329-2A>G" "r.spl" "p.?" "22i"
"0000779593" "00001847" "70" "3749" "0" "3749" "0" "c.3749T>C" "r.(?)" "p.(Leu1250Pro)" "25"
"0000779594" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000779595" "00001847" "90" "2383" "-1" "2383" "-1" "c.2383-1G>A" "r.spl" "p.?" "15i"
"0000779596" "00001847" "90" "4501" "0" "4501" "0" "c.4501G>T" "r.(?)" "p.(Glu1501*)" "30"
"0000779597" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000779598" "00001847" "30" "4203" "0" "4203" "0" "c.4203C>A" "r.(?)" "p.(=)" "28"
"0000779599" "00001847" "70" "2827" "0" "2827" "0" "c.2827C>T" "r.(?)" "p.(Arg943Trp)" "19"
"0000779600" "00001847" "10" "3899" "0" "3899" "0" "c.3899G>A" "r.(?)" "p.(Arg1300Gln)" "27"
"0000779601" "00001847" "10" "3602" "0" "3602" "0" "c.3602T>G" "r.(?)" "p.(Leu1201Arg)" "24"
"0000779602" "00001847" "90" "3292" "0" "3292" "0" "c.3292C>T" "r.(?)" "p.(Arg1098Cys)" "22"
"0000779603" "00001847" "90" "2971" "0" "2971" "0" "c.2971G>C" "r.(?)" "p.(Gly991Arg)" "20"
"0000779604" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000779605" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000779606" "00001847" "70" "2915" "0" "2915" "0" "c.2915C>A" "r.(?)" "p.(Thr972Asn)" "19"
"0000779607" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000779608" "00001847" "50" "4926" "0" "4926" "0" "c.4926C>G" "r.(?)" "p.(Ser1642Arg)" "35"
"0000779609" "00001847" "70" "5044" "0" "5058" "0" "c.5044_5058del" "r.(?)" "p.(Val1682_Val1686del)" "36"
"0000779610" "00001847" "70" "5044" "0" "5058" "0" "c.5044_5058del" "r.(?)" "p.(Val1682_Val1686del)" "36"
"0000779611" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000779612" "00001847" "50" "5077" "0" "5077" "0" "c.5077G>A" "r.(?)" "p.(Val1693Ile)" "36"
"0000779613" "00001847" "70" "4363" "0" "4363" "0" "c.4363T>C" "r.(?)" "p.(Cys1455Arg)" "30"
"0000779614" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000779615" "00001847" "10" "3899" "0" "3899" "0" "c.3899G>A" "r.(?)" "p.(Arg1300Gln)" "27"
"0000779616" "00001847" "30" "618" "0" "618" "0" "c.618C>T" "r.(?)" "p.(Ser206=)" "6"
"0000779617" "00001847" "30" "6730" "-3" "6730" "-3" "c.6730-3T>C" "r.(?)" "p.(?)" "48i"
"0000779618" "00001847" "70" "4462" "0" "4462" "0" "c.4462T>C" "r.(?)" "p.(Cys1488Arg)" "30"
"0000779619" "00001847" "30" "2588" "-12" "2588" "-12" "c.2588-12C>G" "r.=" "p.(=)" "16i"
"0000779620" "00001847" "50" "455" "0" "455" "0" "c.455G>A" "r.(?)" "p.(Arg152Gln)" "5"
"0000779621" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000779622" "00001847" "90" "6319" "0" "6319" "0" "c.6319C>T" "r.(?)" "p.(Arg2107Cys)" "46"
"0000779623" "00001847" "70" "6122" "0" "6122" "0" "c.6122G>A" "r.(?)" "p.(Gly2041Asp)" "44"
"0000779624" "00001847" "70" "161" "0" "161" "0" "c.161G>A" "r.[161_302del,161g>a]" "p.[Cys54Serfs*14,Cys54Tyr]" "3"
"0000779625" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000779626" "00001847" "70" "1015" "0" "1015" "0" "c.1015T>G" "r.(?)" "p.(Trp339Gly)" "8"
"0000779627" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000779628" "00001847" "70" "3607" "0" "3607" "0" "c.3607G>A" "r.3523_3607del" "p.(Thr1176Metfs*2)" "24"
"0000779629" "00001847" "70" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" "31"
"0000779630" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000779631" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000779632" "00001847" "30" "4203" "0" "4203" "0" "c.4203C>A" "r.(?)" "p.(=)" "28"
"0000779633" "00001847" "90" "6088" "0" "6088" "0" "c.6088C>T" "r.(?)" "p.(Arg2030*)" "44"
"0000779634" "00001847" "70" "6498" "0" "6498" "0" "c.6498C>G" "r.(?)" "p.(Ile2166Met)" "48"
"0000779635" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000779636" "00001847" "10" "3602" "0" "3602" "0" "c.3602T>G" "r.(?)" "p.(Leu1201Arg)" "24"
"0000779637" "00001847" "30" "4203" "0" "4203" "0" "c.4203C>A" "r.(?)" "p.(=)" "28"
"0000779638" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000779639" "00001847" "70" "926" "0" "926" "0" "c.926C>G" "r.(?)" "p.(Pro309Arg)" "8"
"0000779640" "00001847" "70" "294" "0" "294" "0" "c.294C>G" "r.(?)" "p.(Asn98Lys)" "3"
"0000779641" "00001847" "70" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" "31"
"0000779642" "00001847" "90" "2603" "0" "2603" "0" "c.2603del" "r.(?)" "p.(Pro868Hisfs*33)" "17"
"0000779643" "00001847" "10" "3899" "0" "3899" "0" "c.3899G>A" "r.(?)" "p.(Arg1300Gln)" "27"
"0000779644" "00001847" "50" "4129" "-17" "4129" "-17" "c.4129-17C>T" "r.(?)" "p.(?)" "27i"
"0000779645" "00001847" "50" "1964" "0" "1964" "0" "c.1964T>G" "r.(?)" "p.(Phe655Cys)" "14"
"0000779646" "00001847" "70" "2300" "0" "2300" "0" "c.2300T>A" "r.(?)" "p.(Val767Asp)" "15"
"0000779647" "00001847" "50" "5585" "-10" "5585" "-10" "c.5585-10T>C" "r.=" "p.(=)" "39i"
"0000779648" "00001847" "30" "4203" "0" "4203" "0" "c.4203C>A" "r.(?)" "p.(=)" "28"
"0000779649" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000779650" "00001847" "90" "664" "0" "664" "0" "c.664del" "r.(?)" "p.(Ala222Glnfs*19)" "6"
"0000779651" "00001847" "30" "6730" "-3" "6730" "-3" "c.6730-3T>C" "r.(?)" "p.(?)" "48i"
"0000779652" "00001847" "10" "3602" "0" "3602" "0" "c.3602T>G" "r.(?)" "p.(Leu1201Arg)" "24"
"0000779653" "00001847" "70" "6146" "0" "6146" "0" "c.6146A>C" "r.(?)" "p.(Lys2049Thr)" "44"
"0000779654" "00001847" "70" "302" "3" "302" "3" "c.302+3A>G" "r.spl?" "p.(?)" "3i"
"0000779655" "00001847" "90" "1086" "0" "1086" "0" "c.1086T>A" "r.(?)" "p.(Tyr362*)" "8"
"0000779656" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000779657" "00001847" "70" "4667" "0" "4667" "0" "c.4667G>C" "r.4635_4667del" "p.(Ser1545_Gln1555del)" "32"
"0000779658" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000779659" "00001847" "50" "4326" "0" "4326" "0" "c.4326C>A" "r.(?)" "p.(Asn1442Lys)" "29"
"0000779660" "00001847" "90" "3986" "0" "3986" "0" "c.3986del" "r.(?)" "p.(Pro1329Glnfs*60)" "27"
"0000779661" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000779662" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000779663" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000779664" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000779665" "00001847" "70" "4594" "0" "4594" "0" "c.4594G>A" "r.(?)" "p.(Asp1532Asn)" "31"
"0000779666" "00001847" "70" "3329" "-11" "3329" "-11" "c.3329-11C>T" "r.spl?" "p.(?)" "22i"
"0000779667" "00001847" "50" "1938" "-637" "1938" "-637" "c.1938-637A>G" "r.(?)" "p.(?)" "13i"
"0000779668" "00001847" "90" "3056" "0" "3056" "0" "c.3056C>T" "r.(?)" "p.(Thr1019Met)" "21"
"0000779669" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000779670" "00001847" "70" "1715" "0" "1715" "0" "c.1715G>A" "r.(?)" "p.(Arg572Gln)" "12"
"0000779671" "00001847" "70" "4253" "4" "4253" "4" "c.4253+4C>T" "r.4129_4253del" "p.(Ile1377Hisfs*3)" "28i"
"0000779672" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000779673" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000779674" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000779675" "00001847" "50" "4328" "0" "4328" "0" "c.4328G>A" "r.(?)" "p.(Arg1443His)" "29"
"0000779676" "00001847" "90" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071Cysfs*14)" "22"
"0000779677" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000779678" "00001847" "50" "766" "0" "766" "0" "c.766G>T" "r.(?)" "p.(Val256Leu)" "6"
"0000779679" "00001847" "70" "2566" "0" "2566" "0" "c.2566T>A" "r.(?)" "p.(Tyr856Asn)" "16"
"0000779680" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000779681" "00001847" "90" "1957" "0" "1957" "0" "c.1957C>T" "r.(?)" "p.(Arg653Cys)" "14"
"0000779682" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000779683" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000779684" "00001847" "50" "2931" "0" "2931" "0" "c.2931G>A" "r.(?)" "p.(Thr977=)" "20"
"0000779685" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000779686" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000779687" "00001847" "30" "4203" "0" "4203" "0" "c.4203C>A" "r.(?)" "p.(=)" "28"
"0000779688" "00001847" "50" "4771" "0" "4771" "0" "c.4771G>A" "r.(?)" "p.(Gly1591Arg)" "33"
"0000779689" "00001847" "70" "6006" "-16" "6006" "-16" "c.6006-16G>A" "r.spl?" "p.(?)" "43i"
"0000779690" "00001847" "70" "286" "0" "286" "0" "c.286A>C" "r.(?)" "p.(Asn96His)" "3"
"0000779691" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000779692" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000779693" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000779694" "00001847" "70" "6149" "0" "6149" "0" "c.6149T>C" "r.(?)" "p.(Val2050Ala)" "45"
"0000779695" "00001847" "70" "2291" "0" "2291" "0" "c.2291G>A" "r.(?)" "p.(Cys764Tyr)" "15"
"0000779696" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000779697" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000779698" "00001847" "90" "4540" "-2" "4540" "-2" "c.4540-2A>G" "r.spl" "p.?" "30i"
"0000779699" "00001847" "50" "5908" "0" "5908" "0" "c.5908C>T" "r.(?)" "p.(Leu1970Phe)" "43"
"0000779700" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000779701" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000779702" "00001847" "90" "2345" "0" "2345" "0" "c.2345G>A" "r.(?)" "p.(Trp782*)" "15"
"0000779703" "00001847" "70" "160" "5" "160" "5" "c.160+5G>C" "r.[67_160del,161_302delins161+1_161+14,=]" "p.[Ile23Alafs∗24,His55Asnfs∗63,=]" "2i"
"0000779704" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000779705" "00001847" "70" "3364" "0" "3364" "0" "c.3364G>A" "r.(?)" "p.(Glu1122Lys)" "23"
"0000779706" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000779707" "00001847" "90" "2966" "0" "2966" "0" "c.2966T>C" "r.(?)" "p.(Val989Ala)" "20"
"0000779708" "00001847" "90" "4045" "0" "4045" "0" "c.4045C>T" "r.(?)" "p.(Gln1349*)" "27"
"0000779709" "00001847" "70" "4919" "0" "4919" "0" "c.4919G>A" "r.(?)" "p.(Arg1640Gln)" "35"
"0000779710" "00001847" "90" "5196" "1" "5196" "1" "c.5196+1G>A" "r.spl" "p.?" "36i"
"0000779711" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000779712" "00001847" "70" "5128" "0" "5128" "0" "c.5128A>C" "r.(?)" "p.(Lys1710Gln)" "36"
"0000779713" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000779714" "00001847" "70" "4253" "4" "4253" "4" "c.4253+4C>T" "r.4129_4253del" "p.(Ile1377Hisfs*3)" "28i"
"0000779715" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000779716" "00001847" "90" "664" "0" "664" "0" "c.664del" "r.(?)" "p.(Ala222Glnfs*19)" "6"
"0000779717" "00001847" "90" "2966" "0" "2966" "0" "c.2966T>C" "r.(?)" "p.(Val989Ala)" "20"
"0000779718" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000779719" "00001847" "70" "1927" "0" "1927" "0" "c.1927G>A" "r.(?)" "p.(Val643Met)" "13"
"0000779720" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000779721" "00001847" "70" "1919" "0" "1919" "0" "c.1919C>T" "r.(?)" "p.(Pro640Leu)" "13"
"0000779722" "00001847" "70" "1715" "0" "1715" "0" "c.1715G>A" "r.(?)" "p.(Arg572Gln)" "12"
"0000779723" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000779724" "00001847" "50" "5395" "0" "5395" "0" "c.5395A>G" "r.(?)" "p.(Asn1799Asp)" "38"
"0000779725" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000779726" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000779727" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000779728" "00001847" "50" "4297" "0" "4297" "0" "c.4297G>A" "r.(?)" "p.(Val1433Ile)" "29"
"0000779729" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000779730" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000779731" "00001847" "70" "872" "0" "872" "0" "c.872C>T" "r.(?)" "p.(Pro291Leu)" "8"
"0000779732" "00001847" "50" "466" "0" "466" "0" "c.466A>G" "r.(?)" "p.(Ile156Val)" "5"
"0000779733" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000779734" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000779735" "00001847" "90" "6118" "0" "6118" "0" "c.6118C>T" "r.(?)" "p.(Arg2040*)" "44"
"0000779736" "00001847" "70" "5381" "0" "5381" "0" "c.5381C>A" "r.(?)" "p.(Ala1794Asp)" "38"
"0000779737" "00001847" "70" "1822" "0" "1822" "0" "c.1822T>A" "r.(?)" "p.(Phe608Ile)" "13"
"0000779738" "00001847" "50" "1933" "0" "1933" "0" "c.1933G>A" "r.(?)" "p.(Asp645Asn)" "13"
"0000779739" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000779740" "00001847" "30" "4203" "0" "4203" "0" "c.4203C>A" "r.(?)" "p.(=)" "28"
"0000779741" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000779742" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000779743" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000779744" "00001847" "70" "161" "0" "161" "0" "c.161G>A" "r.[161_302del,161g>a]" "p.[Cys54Serfs*14,Cys54Tyr]" "3"
"0000779745" "00001847" "90" "1317" "0" "1317" "0" "c.1317G>A" "r.(?)" "p.(Trp439*)" "10"
"0000779746" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000779747" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000779748" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000779749" "00001847" "70" "1927" "0" "1927" "0" "c.1927G>A" "r.(?)" "p.(Val643Met)" "13"
"0000779750" "00001847" "50" "1356" "5" "1356" "6" "c.1356+5_1356+6insC" "r.spl?" "p.(?)" "10i"
"0000779751" "00001847" "70" "3449" "0" "3449" "0" "c.3449G>A" "r.(?)" "p.(Cys1150Tyr)" "23"
"0000779752" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000779753" "00001847" "70" "4712" "0" "4712" "0" "c.4712T>A" "r.(?)" "p.(Ile1571Asn)" "33"
"0000779754" "00001847" "50" "141" "0" "141" "0" "c.141G>A" "r.(?)" "p.(Pro47=)" "2"
"0000779755" "00001847" "30" "302" "26" "302" "26" "c.302+26A>G" "r.(?)" "p.(?)" "3i"
"0000779756" "00001847" "50" "141" "0" "141" "0" "c.141G>A" "r.(?)" "p.(Pro47=)" "2"
"0000779757" "00001847" "30" "302" "26" "302" "26" "c.302+26A>G" "r.(?)" "p.(?)" "3i"
"0000779758" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000779759" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000779760" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000779761" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000779762" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000779763" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000779764" "00001847" "90" "3259" "0" "3259" "0" "c.3259G>A" "r.(?)" "p.(Glu1087Lys)" "22"
"0000779765" "00001847" "90" "6316" "0" "6316" "0" "c.6316C>T" "r.(?)" "p.(Arg2106Cys)" "46"
"0000779766" "00001847" "50" "5822" "0" "5822" "0" "c.5822A>C" "r.(?)" "p.(His1941Pro)" "41"
"0000779767" "00001847" "70" "52" "0" "52" "0" "c.52C>T" "r.(?)" "p.(Arg18Trp)" "1"
"0000779768" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000779769" "00001847" "50" "6721" "0" "6721" "0" "c.6721C>G" "r.(?)" "p.(Leu2241Val)" "48"
"0000779770" "00001847" "30" "4203" "0" "4203" "0" "c.4203C>A" "r.(?)" "p.(=)" "28"
"0000779771" "00001847" "70" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.[=,5196_5197ins5196+1140_5196+1212]" "p.[=,Met1733Glufs*78]" "36i"
"0000779772" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000779773" "00001847" "90" "5574" "0" "5574" "0" "c.5574T>A" "r.(?)" "p.(Tyr1858*)" "39"
"0000779774" "00001847" "70" "3323" "0" "3323" "0" "c.3323G>A" "r.(?)" "p.(Arg1108His)" "22"
"0000779775" "00001847" "90" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071Cysfs*14)" "22"
"0000779776" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000779777" "00001847" "30" "6730" "-3" "6730" "-3" "c.6730-3T>C" "r.(?)" "p.(?)" "48i"
"0000779778" "00001847" "70" "288" "0" "288" "0" "c.288C>A" "r.(?)" "p.(Asn96Lys)" "3"
"0000779779" "00001847" "90" "6445" "0" "6445" "0" "c.6445C>T" "r.(?)" "p.(Arg2149*)" "47"
"0000779780" "00001847" "90" "2971" "0" "2971" "0" "c.2971G>C" "r.(?)" "p.(Gly991Arg)" "20"
"0000779781" "00001847" "70" "1610" "0" "1610" "0" "c.1610G>A" "r.(?)" "p.(Arg537His)" "12"
"0000779782" "00001847" "50" "1140" "0" "1140" "0" "c.1140T>A" "r.(?)" "p.(Asn380Lys)" "9"
"0000779783" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000779784" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000779785" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000779786" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000779787" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000779788" "00001847" "70" "1927" "0" "1927" "0" "c.1927G>A" "r.(?)" "p.(Val643Met)" "13"
"0000779789" "00001847" "90" "4254" "-2" "4254" "-2" "c.4254-2A>G" "r.spl" "p.?" "28i"
"0000779790" "00001847" "90" "1086" "0" "1086" "0" "c.1086T>A" "r.(?)" "p.(Tyr362*)" "8"
"0000779791" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000779792" "00001847" "50" "2042" "0" "2042" "0" "c.2042G>A" "r.(?)" "p.(Arg681Gln)" "14"
"0000779793" "00001847" "70" "161" "0" "161" "0" "c.161G>A" "r.[161_302del,161g>a]" "p.[Cys54Serfs*14,Cys54Tyr]" "3"
"0000779794" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000779795" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000779796" "00001847" "50" "141" "0" "141" "0" "c.141G>A" "r.(?)" "p.(Pro47=)" "2"
"0000779797" "00001847" "50" "4506" "0" "4506" "0" "c.4506C>T" "r.(?)" "p.(=)" "30"
"0000779798" "00001847" "70" "4709" "0" "4709" "0" "c.4709C>T" "r.(?)" "p.(Pro1570Leu)" "33"
"0000779799" "00001847" "50" "1761" "-50" "1761" "-50" "c.1761-50G>A" "r.(?)" "p.(?)" "12i"
"0000779800" "00001847" "50" "5693" "0" "5693" "0" "c.5693G>A" "r.(?)" "p.(Arg1898His)" "40"
"0000779801" "00001847" "90" "1211" "0" "1211" "0" "c.1211C>G" "r.(?)" "p.(Ser404*)" "9"
"0000779802" "00001847" "70" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" "44"
"0000779803" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000779804" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000779805" "00001847" "70" "4222" "0" "4222" "0" "c.4222T>C" "r.(?)" "p.(Trp1408Arg)" "28"
"0000779806" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000779807" "00001847" "30" "4203" "0" "4203" "0" "c.4203C>A" "r.(?)" "p.(=)" "28"
"0000779808" "00001847" "70" "1253" "0" "1253" "0" "c.1253T>C" "r.(?)" "p.(Phe418Ser)" "10"
"0000779809" "00001847" "90" "5196" "1" "5196" "1" "c.5196+1G>A" "r.spl" "p.?" "36i"
"0000779810" "00001847" "70" "70" "0" "70" "0" "c.70C>T" "r.(?)" "p.[IIe23IIefs*30,=]" "2"
"0000779811" "00001847" "50" "2546" "0" "2546" "0" "c.2546T>C" "r.(?)" "p.(Val849Ala)" "16"
"0000779812" "00001847" "70" "2915" "0" "2915" "0" "c.2915C>A" "r.(?)" "p.(Thr972Asn)" "19"
"0000779813" "00001847" "70" "926" "0" "926" "0" "c.926C>G" "r.(?)" "p.(Pro309Arg)" "8"
"0000779814" "00001847" "70" "1609" "0" "1609" "0" "c.1609C>T" "r.(?)" "p.(Arg537Cys)" "12"
"0000779815" "00001847" "70" "3840" "0" "3845" "0" "c.3840_3845del" "r.(?)" "p.(Asp1281_Ser1282del)" "26"
"0000779816" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000779817" "00001847" "70" "4793" "0" "4793" "0" "c.4793C>A" "r.(?)" "p.(Ala1598Asp)" "34"
"0000779818" "00001847" "70" "214" "0" "214" "0" "c.214G>A" "r.(?)" "p.(Gly72Arg)" "3"
"0000779819" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000779820" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000779821" "00001847" "70" "4516" "0" "4516" "0" "c.4516G>A" "r.(?)" "p.(Ala1506Thr)" "30"
"0000779822" "00001847" "70" "4919" "0" "4919" "0" "c.4919G>A" "r.(?)" "p.(Arg1640Gln)" "35"
"0000779823" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000779824" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000779825" "00001847" "70" "1015" "0" "1015" "0" "c.1015T>G" "r.(?)" "p.(Trp339Gly)" "8"
"0000779826" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000779827" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000779828" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000779829" "00001847" "70" "618" "0" "618" "0" "c.618C>G" "r.(?)" "p.(Ser206Arg)" "6"
"0000779830" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000779831" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000779832" "00001847" "70" "6006" "-16" "6006" "-16" "c.6006-16G>A" "r.spl?" "p.(?)" "43i"
"0000779833" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000779834" "00001847" "30" "4203" "0" "4203" "0" "c.4203C>A" "r.(?)" "p.(=)" "28"
"0000779835" "00001847" "70" "4538" "0" "4538" "0" "c.4538A>G" "r.[4539_4540ins4540+1_4530+30,4467_4539del]" "p.(Arg1513_Arg1514ins10,Cys1490Glufs*12)" "30"
"0000779836" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000779837" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000779838" "00001847" "50" "2608" "0" "2608" "0" "c.2608C>T" "r.(?)" "p.(Pro870Ser)" "17"
"0000779839" "00001847" "70" "5281" "0" "5289" "0" "c.5281_5289del" "r.(?)" "p.(Pro1761_Leu1763del)" "37"
"0000779840" "00001847" "50" "6119" "0" "6119" "0" "c.6119G>A" "r.(?)" "p.(Arg2040Gln)" "44"
"0000779841" "00001847" "70" "3449" "0" "3449" "0" "c.3449G>A" "r.(?)" "p.(Cys1150Tyr)" "23"
"0000779842" "00001847" "50" "5693" "0" "5693" "0" "c.5693G>A" "r.(?)" "p.(Arg1898His)" "40"
"0000779843" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000779844" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000779845" "00001847" "90" "6319" "0" "6319" "0" "c.6319C>T" "r.(?)" "p.(Arg2107Cys)" "46"
"0000779846" "00001847" "50" "3758" "0" "3758" "0" "c.3758C>T" "r.(?)" "p.(Thr1253Met)" "25"
"0000779847" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000779848" "00001847" "70" "32" "0" "32" "0" "c.32T>C" "r.(?)" "p.(Leu11Pro)" "1"
"0000779849" "00001847" "70" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" "31"
"0000779850" "00001847" "10" "3899" "0" "3899" "0" "c.3899G>A" "r.(?)" "p.(Arg1300Gln)" "27"
"0000779851" "00001847" "70" "286" "0" "286" "0" "c.286A>C" "r.(?)" "p.(Asn96His)" "3"
"0000779852" "00001847" "50" "2486" "0" "2486" "0" "c.2486C>T" "r.(?)" "p.(Thr829Met)" "16"
"0000779853" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000779854" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000779855" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000779856" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000779857" "00001847" "70" "161" "0" "161" "0" "c.161G>A" "r.[161_302del,161g>a]" "p.[Cys54Serfs*14,Cys54Tyr]" "3"
"0000779858" "00001847" "90" "2966" "0" "2966" "0" "c.2966T>C" "r.(?)" "p.(Val989Ala)" "20"
"0000779859" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000779860" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000779861" "00001847" "70" "6006" "-16" "6006" "-16" "c.6006-16G>A" "r.spl?" "p.(?)" "43i"
"0000779862" "00001847" "30" "4203" "0" "4203" "0" "c.4203C>A" "r.(?)" "p.(=)" "28"
"0000779863" "00001847" "30" "4203" "0" "4203" "0" "c.4203C>A" "r.(?)" "p.(=)" "28"
"0000779864" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000779865" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000779866" "00001847" "30" "4203" "0" "4203" "0" "c.4203C>A" "r.(?)" "p.(=)" "28"
"0000779867" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000779868" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000779869" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000779870" "00001847" "30" "4203" "0" "4203" "0" "c.4203C>A" "r.(?)" "p.(=)" "28"
"0000779871" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000779872" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000779873" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000779874" "00001847" "70" "2353" "0" "2353" "0" "c.2353C>G" "r.(?)" "p.(Arg785Gly)" "15"
"0000779875" "00001847" "70" "5824" "0" "5824" "0" "c.5824G>C" "r.(?)" "p.(Glu1942Gln)" "41"
"0000779876" "00001847" "70" "2453" "0" "2453" "0" "c.2453G>A" "r.(?)" "p.(Gly818Glu)" "16"
"0000779877" "00001847" "70" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" "44"
"0000779878" "00001847" "70" "5059" "0" "5059" "0" "c.5059A>T" "r.(?)" "p.(Ile1687Phe)" "36"
"0000779879" "00001847" "90" "2564" "0" "2564" "0" "c.2564G>A" "r.(?)" "p.(Trp855*)" "16"
"0000779880" "00001847" "70" "3041" "0" "3041" "0" "c.3041T>G" "r.(?)" "p.(Leu1014Arg)" "20"
"0000779881" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000779882" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000779883" "00001847" "70" "1034" "0" "1034" "0" "c.1034A>G" "r.(?)" "p.(Tyr345Cys)" "8"
"0000779884" "00001847" "90" "5196" "1" "5196" "1" "c.5196+1G>A" "r.spl" "p.?" "36i"
"0000779885" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000779886" "00001847" "50" "3758" "0" "3758" "0" "c.3758C>T" "r.(?)" "p.(Thr1253Met)" "25"
"0000779887" "00001847" "90" "1957" "0" "1957" "0" "c.1957C>T" "r.(?)" "p.(Arg653Cys)" "14"
"0000779888" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000779889" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000779890" "00001847" "50" "5462" "0" "5462" "0" "c.5462C>T" "r.(?)" "p.(Thr1821Met)" "39"
"0000779891" "00001847" "70" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.[=,5196_5197ins5196+1140_5196+1212]" "p.[=,Met1733Glufs*78]" "36i"
"0000779892" "00001847" "70" "6221" "0" "6221" "0" "c.6221G>T" "r.(?)" "p.(Gly2074Val)" "45"
"0000779893" "00001847" "90" "2691" "0" "2691" "0" "c.2691del" "r.(?)" "p.(Glu898Serfs*3)" "18"
"0000779894" "00001847" "90" "5196" "1" "5196" "1" "c.5196+1G>A" "r.spl" "p.?" "36i"
"0000779895" "00001847" "70" "1531" "0" "1531" "0" "c.1531C>T" "r.(?)" "p.(Arg511Cys)" "11"
"0000779896" "00001847" "90" "6286" "0" "6286" "0" "c.6286G>A" "r.(?)" "p.(Glu2096Lys)" "46"
"0000779897" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000779898" "00001847" "30" "4203" "0" "4203" "0" "c.4203C>A" "r.(?)" "p.(=)" "28"
"0000779899" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000779900" "00001847" "70" "20" "0" "20" "0" "c.20T>A" "r.(?)" "p.(Ile7Lys)" "1"
"0000779901" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000779902" "00001847" "70" "4625" "0" "4625" "0" "c.4625T>C" "r.(?)" "p.(Ile1542Thr)" "31"
"0000779903" "00001847" "90" "3" "0" "3" "0" "c.3G>T" "r.(?)" "p.(?)" "1"
"0000779904" "00001847" "70" "1927" "0" "1927" "0" "c.1927G>A" "r.(?)" "p.(Val643Met)" "13"
"0000779905" "00001847" "70" "6342" "0" "6342" "0" "c.6342G>A" "r.(?)" "p.(=)" "46"
"0000779906" "00001847" "90" "3259" "0" "3259" "0" "c.3259G>A" "r.(?)" "p.(Glu1087Lys)" "22"
"0000779907" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000779908" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000779909" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000779910" "00001847" "50" "5186" "0" "5186" "0" "c.5186T>C" "r.(?)" "p.(Leu1729Pro)" "36"
"0000779911" "00001847" "30" "3468" "0" "3468" "0" "c.3468C>T" "r.(?)" "p.(Tyr1156=)" "23"
"0000779912" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000779913" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000779914" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000779915" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000779916" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000779917" "00001847" "70" "294" "0" "294" "0" "c.294C>G" "r.(?)" "p.(Asn98Lys)" "3"
"0000779918" "00001847" "70" "1609" "0" "1609" "0" "c.1609C>T" "r.(?)" "p.(Arg537Cys)" "12"
"0000779919" "00001847" "70" "926" "0" "926" "0" "c.926C>G" "r.(?)" "p.(Pro309Arg)" "8"
"0000779920" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000779921" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000779922" "00001847" "30" "4203" "0" "4203" "0" "c.4203C>A" "r.(?)" "p.(=)" "28"
"0000779923" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000779924" "00001847" "30" "4203" "0" "4203" "0" "c.4203C>A" "r.(?)" "p.(=)" "28"
"0000779925" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000779926" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000779927" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000779928" "00001847" "90" "5316" "0" "5316" "0" "c.5316G>A" "r.(?)" "p.(Trp1772*)" "38"
"0000779929" "00001847" "50" "656" "0" "656" "0" "c.656G>C" "r.(?)" "p.(Arg219Thr)" "6"
"0000779930" "00001847" "50" "4532" "0" "4532" "0" "c.4532C>G" "r.(?)" "p.(Pro1511Arg)" "30"
"0000779931" "00001847" "50" "466" "0" "466" "0" "c.466A>G" "r.(?)" "p.(Ile156Val)" "5"
"0000779932" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000779933" "00001847" "10" "3602" "0" "3602" "0" "c.3602T>G" "r.(?)" "p.(Leu1201Arg)" "24"
"0000779934" "00001847" "70" "6006" "-16" "6006" "-16" "c.6006-16G>A" "r.spl?" "p.(?)" "43i"
"0000779935" "00001847" "70" "1715" "0" "1715" "0" "c.1715G>A" "r.(?)" "p.(Arg572Gln)" "12"
"0000779936" "00001847" "90" "6088" "0" "6088" "0" "c.6088C>T" "r.(?)" "p.(Arg2030*)" "44"
"0000779937" "00001847" "50" "6119" "0" "6119" "0" "c.6119G>A" "r.(?)" "p.(Arg2040Gln)" "44"
"0000779938" "00001847" "70" "71" "0" "71" "0" "c.71G>A" "r.(?)" "p.(Arg24Cys)" "2"
"0000779939" "00001847" "70" "1609" "0" "1609" "0" "c.1609C>T" "r.(?)" "p.(Arg537Cys)" "12"
"0000779940" "00001847" "70" "294" "0" "294" "0" "c.294C>G" "r.(?)" "p.(Asn98Lys)" "3"
"0000779941" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000779942" "00001847" "90" "5898" "1" "5898" "1" "c.5898+1G>A" "r.spl" "p.?" "42i"
"0000779943" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000779944" "00001847" "30" "4203" "0" "4203" "0" "c.4203C>A" "r.(?)" "p.(=)" "28"
"0000779945" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000779946" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000779947" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000779948" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000779949" "00001847" "70" "926" "0" "926" "0" "c.926C>G" "r.(?)" "p.(Pro309Arg)" "8"
"0000779950" "00001847" "70" "3055" "0" "3055" "0" "c.3055A>G" "r.(?)" "p.(Thr1019Ala)" "21"
"0000779951" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000779952" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000779953" "00001847" "90" "5898" "1" "5898" "1" "c.5898+1G>A" "r.spl" "p.?" "42i"
"0000779954" "00001847" "70" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" "35"
"0000779955" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000779956" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000779957" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000779958" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000779959" "00001847" "30" "4203" "0" "4203" "0" "c.4203C>A" "r.(?)" "p.(=)" "28"
"0000779960" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000779961" "00001847" "90" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071Cysfs*14)" "22"
"0000779962" "00001847" "50" "4195" "0" "4195" "0" "c.4195G>A" "r.(?)" "p.(Glu1399Lys)" "28"
"0000779963" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000779964" "00001847" "30" "4203" "0" "4203" "0" "c.4203C>A" "r.(?)" "p.(=)" "28"
"0000779965" "00001847" "90" "2971" "0" "2971" "0" "c.2971G>C" "r.(?)" "p.(Gly991Arg)" "20"
"0000779966" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000779967" "00001847" "70" "6006" "-16" "6006" "-16" "c.6006-16G>A" "r.spl?" "p.(?)" "43i"
"0000779968" "00001847" "70" "2243" "0" "2243" "0" "c.2243G>A" "r.(?)" "p.(Cys748Tyr)" "15"
"0000779969" "00001847" "70" "1745" "0" "1745" "0" "c.1745A>G" "r.(?)" "p.(Asn582Ser)" "12"
"0000779970" "00001847" "70" "2963" "0" "2963" "0" "c.2963T>C" "r.(?)" "p.(Leu988Pro)" "20"
"0000779971" "00001847" "30" "4203" "0" "4203" "0" "c.4203C>A" "r.(?)" "p.(=)" "28"
"0000779972" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000779973" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000779974" "00001847" "70" "91" "0" "91" "0" "c.91T>C" "r.(?)" "p.(Trp31Arg)" "2"
"0000779975" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000779976" "00001847" "70" "5044" "0" "5058" "0" "c.5044_5058del" "r.(?)" "p.(Val1682_Val1686del)" "36"
"0000779977" "00001847" "50" "5077" "0" "5077" "0" "c.5077G>A" "r.(?)" "p.(Val1693Ile)" "36"
"0000779978" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000779979" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000779980" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000779981" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000779982" "00001847" "30" "4203" "0" "4203" "0" "c.4203C>A" "r.(?)" "p.(=)" "28"
"0000779983" "00001847" "70" "1531" "0" "1531" "0" "c.1531C>T" "r.(?)" "p.(Arg511Cys)" "11"
"0000779984" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000779985" "00001847" "90" "5196" "1" "5196" "1" "c.5196+1G>A" "r.spl" "p.?" "36i"
"0000779986" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000779987" "00001847" "70" "4919" "0" "4919" "0" "c.4919G>A" "r.(?)" "p.(Arg1640Gln)" "35"
"0000779988" "00001847" "30" "4203" "0" "4203" "0" "c.4203C>A" "r.(?)" "p.(=)" "28"
"0000779989" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000779990" "00001847" "70" "4925" "0" "4925" "0" "c.4925G>T" "r.(?)" "p.(Ser1462Ile)" "35"
"0000779991" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000779992" "00001847" "30" "4203" "0" "4203" "0" "c.4203C>A" "r.(?)" "p.(=)" "28"
"0000779993" "00001847" "70" "2609" "0" "2609" "0" "c.2609C>T" "r.(?)" "p.(Pro870Leu)" "17"
"0000779994" "00001847" "30" "4203" "0" "4203" "0" "c.4203C>A" "r.(?)" "p.(=)" "28"
"0000779995" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000779996" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000779997" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000779998" "00001847" "50" "6498" "0" "6498" "0" "c.6498C>T" "r.(?)" "p.(=)" "48"
"0000779999" "00001847" "90" "4667" "0" "4667" "0" "c.4667G>A" "r.4635_4667del" "p.(Ser1545_Gln1555del)" "32"
"0000780000" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000780001" "00001847" "70" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" "31"
"0000780002" "00001847" "50" "5693" "0" "5693" "0" "c.5693G>A" "r.(?)" "p.(Arg1898His)" "40"
"0000780003" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000780004" "00001847" "50" "1411" "0" "1411" "0" "c.1411G>A" "r.(?)" "p.(Glu471Lys)" "11"
"0000780005" "00001847" "90" "1554" "0" "1554" "0" "c.1554G>A" "r.(?)" "p.(?)" "11"
"0000780006" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000780007" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000780008" "00001847" "90" "3259" "0" "3259" "0" "c.3259G>A" "r.(?)" "p.(Glu1087Lys)" "22"
"0000780009" "00001847" "90" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071Cysfs*14)" "22"
"0000780010" "00001847" "90" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071Cysfs*14)" "22"
"0000780011" "00001847" "70" "5824" "0" "5824" "0" "c.5824G>C" "r.(?)" "p.(Glu1942Gln)" "41"
"0000780012" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000780013" "00001847" "90" "2041" "0" "2041" "0" "c.2041C>T" "r.(?)" "p.(Arg681*)" "14"
"0000780014" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000780015" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000780016" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000780017" "00001847" "70" "6326" "0" "6326" "0" "c.6326T>C" "r.(?)" "p.(Leu2109Pro)" "46"
"0000780018" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000780019" "00001847" "90" "5196" "1" "5196" "1" "c.5196+1G>A" "r.spl" "p.?" "36i"
"0000780020" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000780021" "00001847" "70" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" "31"
"0000780022" "00001847" "70" "6317" "0" "6317" "0" "c.6317G>A" "r.(?)" "p.(Arg2106His)" "46"
"0000780023" "00001847" "70" "4462" "0" "4462" "0" "c.4462T>C" "r.(?)" "p.(Cys1488Arg)" "30"
"0000780024" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000780025" "00001847" "90" "2966" "0" "2966" "0" "c.2966T>C" "r.(?)" "p.(Val989Ala)" "20"
"0000780026" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000780027" "00001847" "70" "71" "0" "71" "0" "c.71G>A" "r.(?)" "p.(Arg24Cys)" "2"
"0000780028" "00001847" "70" "3547" "0" "3547" "0" "c.3547G>T" "r.(?)" "p.(Gly1183Cys)" "24"
"0000780029" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000780030" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000780031" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000780032" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000780033" "00001847" "70" "4635" "-5" "4635" "-5" "c.4635-5T>C" "r.spl?" "p.(?)" "31i"
"0000780034" "00001847" "90" "6445" "0" "6445" "0" "c.6445C>T" "r.(?)" "p.(Arg2149*)" "47"
"0000780035" "00001847" "70" "1927" "0" "1927" "0" "c.1927G>A" "r.(?)" "p.(Val643Met)" "13"
"0000780036" "00001847" "50" "1343" "0" "1343" "0" "c.1343T>A" "r.(?)" "p.(Met448Lys)" "10"
"0000780037" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000780038" "00001847" "50" "838" "0" "838" "0" "c.838A>T" "r.(?)" "p.(Met280Leu)" "7"
"0000780039" "00001847" "70" "4773" "0" "4773" "0" "c.4773G>C" "r.[4668_5018del,4668_4773del]" "p.(Tyr1557_Val1673del,Tyr1557Alafs*18)" "33"
"0000780040" "00001847" "70" "161" "0" "161" "0" "c.161G>A" "r.[161_302del,161g>a]" "p.[Cys54Serfs*14,Cys54Tyr]" "3"
"0000780041" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000780042" "00001847" "50" "2546" "0" "2546" "0" "c.2546T>C" "r.(?)" "p.(Val849Ala)" "16"
"0000780043" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000780044" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000780045" "00001847" "50" "4539" "1858" "4539" "1858" "c.4539+1858dup" "r.(?)" "p.(?)" "30i"
"0000780046" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000780047" "00001847" "70" "4457" "0" "4457" "0" "c.4457C>T" "r.(?)" "p.(Pro1486Leu)" "30"
"0000780048" "00001847" "70" "161" "0" "161" "0" "c.161G>A" "r.[161_302del,161g>a]" "p.[Cys54Serfs*14,Cys54Tyr]" "3"
"0000780049" "00001847" "90" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071Cysfs*14)" "22"
"0000780050" "00001847" "70" "4538" "0" "4538" "0" "c.4538A>G" "r.[4539_4540ins4540+1_4530+30,4467_4539del]" "p.(Arg1513_Arg1514ins10,Cys1490Glufs*12)" "30"
"0000780051" "00001847" "90" "5018" "5" "5018" "5" "c.5018+5G>A" "r.4849_5018del" "p.(Val1617Alafs*113)" "35i"
"0000780052" "00001847" "70" "2461" "0" "2461" "0" "c.2461T>A" "r.(?)" "p.(Trp821Arg)" "16"
"0000780053" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000780054" "00001847" "70" "6722" "0" "6722" "0" "c.6722T>C" "r.(?)" "p.(Leu2241Pro)" "48"
"0000780055" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000780056" "00001847" "50" "5413" "0" "5413" "0" "c.5413A>G" "r.(?)" "p.(Asn1805Asp)" "38"
"0000780057" "00001847" "90" "355" "0" "356" "0" "c.355_356del" "r.(?)" "p.(Ser119Profs*41)" "4"
"0000780058" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000780059" "00001847" "90" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.(Met1Val)" "1"
"0000780060" "00001847" "90" "2041" "0" "2041" "0" "c.2041C>T" "r.(?)" "p.(Arg681*)" "14"
"0000780061" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000780062" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.[(768g>u;768_769ins768+1_768+35)]" "p.(Leu257Valfs*17)" "6"
"0000780063" "00001847" "70" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" "35"
"0000780064" "00001847" "70" "4222" "0" "4222" "0" "c.4222T>C" "r.(?)" "p.(Trp1408Arg)" "28"
"0000780065" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000780066" "00001847" "70" "926" "0" "926" "0" "c.926C>G" "r.(?)" "p.(Pro309Arg)" "8"
"0000780067" "00001847" "90" "3056" "0" "3056" "0" "c.3056C>T" "r.(?)" "p.(Thr1019Met)" "21"
"0000780068" "00001847" "70" "4462" "0" "4462" "0" "c.4462T>C" "r.(?)" "p.(Cys1488Arg)" "30"
"0000780069" "00001847" "90" "885" "0" "885" "0" "c.885del" "r.(?)" "p.(Leu296Cysfs*4)" "8"
"0000780070" "00001847" "70" "1253" "0" "1253" "0" "c.1253T>C" "r.(?)" "p.(Phe418Ser)" "10"
"0000780071" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000780072" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000780073" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000780074" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000780075" "00001847" "70" "6342" "0" "6342" "0" "c.6342G>A" "r.(?)" "p.(=)" "46"
"0000780076" "00001847" "70" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" "31"
"0000780077" "00001847" "70" "4319" "0" "4319" "0" "c.4319T>C" "r.(?)" "p.(Phe1440Ser)" "29"
"0000780078" "00001847" "70" "4319" "0" "4319" "0" "c.4319T>C" "r.(?)" "p.(Phe1440Ser)" "29"
"0000780079" "00001847" "90" "4537" "0" "4537" "0" "c.4537dup" "r.(?)" "p.(Gln1513Profs*42)" "30"
"0000780080" "00001847" "50" "5196" "1159" "5196" "1159" "c.5196+1159G>A" "r.=" "p.(=)" "36i"
"0000780081" "00001847" "90" "700" "0" "700" "0" "c.700C>T" "r.(?)" "p.(Gln234*)" "6"
"0000780082" "00001847" "50" "1356" "5" "1356" "6" "c.1356+5_1356+6insC" "r.spl?" "p.(?)" "10i"
"0000780083" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000780084" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000780085" "00001847" "70" "1015" "0" "1015" "0" "c.1015T>G" "r.(?)" "p.(Trp339Gly)" "8"
"0000780086" "00001847" "70" "4222" "0" "4222" "0" "c.4222T>C" "r.(?)" "p.(Trp1408Arg)" "28"
"0000780087" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000780088" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000780089" "00001847" "50" "1411" "0" "1411" "0" "c.1411G>A" "r.(?)" "p.(Glu471Lys)" "11"
"0000780090" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000780091" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000780092" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000780093" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000780094" "00001847" "50" "466" "0" "466" "0" "c.466A>G" "r.(?)" "p.(Ile156Val)" "5"
"0000780095" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000780096" "00001847" "90" "2564" "0" "2564" "0" "c.2564G>A" "r.(?)" "p.(Trp855*)" "16"
"0000780097" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000780098" "00001847" "90" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973*)" "43"
"0000780099" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000780100" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000780101" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000780102" "00001847" "90" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.(Met1Val)" "1"
"0000780103" "00001847" "70" "5381" "0" "5381" "0" "c.5381C>A" "r.(?)" "p.(Ala1794Asp)" "38"
"0000780104" "00001847" "70" "3364" "0" "3364" "0" "c.3364G>A" "r.(?)" "p.(Glu1122Lys)" "23"
"0000780105" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000780106" "00001847" "90" "3874" "0" "3874" "0" "c.3874C>T" "r.(?)" "p.(Gln1292*)" "27"
"0000780107" "00001847" "90" "3874" "0" "3874" "0" "c.3874C>T" "r.(?)" "p.(Gln1292*)" "27"
"0000780108" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000780109" "00001847" "70" "1357" "0" "1357" "0" "c.1357G>T" "r.(?)" "p.(Asp453Tyr,?)" "11"
"0000780110" "00001847" "90" "5018" "2" "5018" "2" "c.5018+2T>C" "r.spl" "p.?" "35i"
"0000780111" "00001847" "70" "5044" "0" "5058" "0" "c.5044_5058del" "r.(?)" "p.(Val1682_Val1686del)" "36"
"0000780112" "00001847" "50" "4926" "0" "4926" "0" "c.4926C>G" "r.(?)" "p.(Ser1642Arg)" "35"
"0000780113" "00001847" "70" "5044" "0" "5058" "0" "c.5044_5058del" "r.(?)" "p.(Val1682_Val1686del)" "36"
"0000780114" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000780115" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000780116" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000780117" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000780118" "00001847" "50" "4926" "0" "4926" "0" "c.4926C>G" "r.(?)" "p.(Ser1642Arg)" "35"
"0000780119" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000780120" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000780121" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000780122" "00001847" "90" "5836" "-2" "5836" "-2" "c.5836-2A>G" "r.spl" "p.?" "41i"
"0000780123" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000780124" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000780125" "00001847" "90" "6658" "0" "6658" "0" "c.6658C>T" "r.(?)" "p.(Gln2220*)" "48"
"0000780126" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000780127" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000780128" "00001847" "70" "4539" "2001" "4539" "2001" "c.4539+2001G>A" "r.[=,4539_4540ins4539+1891_4540-2162]" "p.[=,Arg1514Leufs*36]" "30i"
"0000780129" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000780130" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000780131" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000780132" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000780133" "00001847" "70" "4539" "2028" "4539" "2028" "c.4539+2028C>T" "r.[=,4539_4540ins[4539+1891_4539+2027;u;4539+2029_4540-2162]]" "p.[=,Arg1514Leufs*36]" "30i"
"0000780134" "00001847" "50" "3862" "3" "3862" "3" "c.3862+3A>G" "r.[=,3814_3862del]" "p.[=,Ile1272Valfs*101]" "26i"
"0000780135" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000780136" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000780137" "00001847" "70" "4222" "0" "4222" "0" "c.4222T>C" "r.(?)" "p.(Trp1408Arg)" "28"
"0000780138" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000780139" "00001847" "30" "4203" "0" "4203" "0" "c.4203C>A" "r.(?)" "p.(=)" "28"
"0000780140" "00001847" "70" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" "35"
"0000780141" "00001847" "10" "3602" "0" "3602" "0" "c.3602T>G" "r.(?)" "p.(Leu1201Arg)" "24"
"0000780142" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000780143" "00001847" "70" "4457" "0" "4457" "0" "c.4457C>T" "r.(?)" "p.(Pro1486Leu)" "30"
"0000780144" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000780145" "00001847" "70" "1007" "0" "1007" "0" "c.1007C>G" "r.(?)" "p.(Ser336Cys)" "8"
"0000780146" "00001847" "90" "6118" "0" "6118" "0" "c.6118C>T" "r.(?)" "p.(Arg2040*)" "44"
"0000780147" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000780148" "00001847" "90" "1240" "-2" "1240" "-2" "c.1240-2A>G" "r.spl" "p.?" "9i"
"0000780149" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000780150" "00001847" "70" "161" "0" "161" "0" "c.161G>A" "r.[161_302del,161g>a]" "p.[Cys54Serfs*14,Cys54Tyr]" "3"
"0000780151" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000780152" "00001847" "90" "4947" "0" "4947" "0" "c.4947del" "r.(?)" "p.(Glu1650Argfs*12)" "35"
"0000780153" "00001847" "30" "6730" "-3" "6730" "-3" "c.6730-3T>C" "r.(?)" "p.(?)" "48i"
"0000780154" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000780155" "00001847" "70" "4793" "0" "4793" "0" "c.4793C>A" "r.(?)" "p.(Ala1598Asp)" "34"
"0000780156" "00001847" "70" "1531" "0" "1531" "0" "c.1531C>T" "r.(?)" "p.(Arg511Cys)" "11"
"0000780157" "00001847" "30" "4203" "0" "4203" "0" "c.4203C>A" "r.(?)" "p.(=)" "28"
"0000780158" "00001847" "70" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" "31"
"0000780159" "00001847" "90" "2966" "0" "2966" "0" "c.2966T>C" "r.(?)" "p.(Val989Ala)" "20"
"0000780160" "00001847" "50" "6148" "0" "6148" "0" "c.6148G>C" "r.=" "p.(Val2050Leu)" "45"
"0000780161" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000780162" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000780163" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000780164" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000780165" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.[(768g>u;768_769ins768+1_768+35)]" "p.(Leu257Valfs*17)" "6"
"0000780166" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000780167" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000780168" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000780169" "00001847" "90" "1086" "0" "1086" "0" "c.1086T>A" "r.(?)" "p.(Tyr362*)" "8"
"0000780170" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000780171" "00001847" "90" "2971" "0" "2971" "0" "c.2971G>C" "r.(?)" "p.(Gly991Arg)" "20"
"0000780172" "00001847" "50" "455" "0" "455" "0" "c.455G>A" "r.(?)" "p.(Arg152Gln)" "5"
"0000780173" "00001847" "50" "5585" "-10" "5585" "-10" "c.5585-10T>C" "r.=" "p.(=)" "39i"
"0000783886" "00001847" "70" "3608" "-1" "3608" "-1" "c.3608-1G>C" "r.spl" "p.?" ""
"0000783973" "00001847" "70" "454" "0" "454" "0" "c.454C>T" "r.(?)" "p.(Arg152Ter)" ""
"0000784126" "00001847" "70" "1552" "0" "1552" "0" "c.1552G>A" "r.(?)" "p.(Glu518Lys)" ""
"0000784127" "00001847" "70" "4516" "0" "4516" "0" "c.4516G>C" "r.(?)" "p.(Ala1506Pro)" ""
"0000784143" "00001847" "70" "2023" "0" "2023" "0" "c.2023G>A" "r.(?)" "p.(Val675Ile)" ""
"0000784253" "00001847" "70" "6119" "0" "6119" "0" "c.6119G>A" "r.(?)" "p.(Arg2040Gln)" ""
"0000784254" "00001847" "70" "6119" "0" "6119" "0" "c.6119G>A" "r.(?)" "p.(Arg2040Gln)" ""
"0000784255" "00001847" "70" "673" "0" "673" "0" "c.673G>A" "r.(?)" "p.(Val225Met)" ""
"0000784277" "00001847" "50" "6499" "0" "6499" "0" "c.6499G>A" "r.(?)" "p.(Val2167Ile)" ""
"0000784283" "00001847" "50" "2158" "0" "2158" "0" "c.2158A>G" "r.(?)" "p.(Met720Val)" ""
"0000784341" "00001847" "70" "4981" "0" "4981" "0" "c.4981C>G" "r.(?)" "p.(Leu1661Val)" ""
"0000784351" "00001847" "70" "2424" "0" "2424" "0" "c.2424C>G" "r.(?)" "p.(Tyr808Ter)" ""
"0000784364" "00001847" "70" "6119" "0" "6119" "0" "c.6119G>A" "r.(?)" "p.(Arg2040Gln)" ""
"0000784373" "00001847" "70" "5435" "0" "5435" "0" "c.5435T>A" "r.(?)" "p.(Ile1812Asn)" ""
"0000784384" "00001847" "70" "5196" "3" "5196" "4" "c.5196+3_5196+4insTT" "r.spl" "p.?" ""
"0000784460" "00001847" "50" "575" "0" "575" "0" "c.575C>T" "r.(?)" "p.(Ala192Val)" ""
"0000784489" "00001847" "50" "5312" "8" "5312" "8" "c.5312+8G>A" "r.(=)" "p.(=)" ""
"0000784515" "00001847" "50" "2158" "0" "2158" "0" "c.2158A>G" "r.(?)" "p.(Met720Val)" ""
"0000785570" "00001847" "50" "5501" "0" "5501" "0" "c.5501T>C" "r.(?)" "p.(Ile1834Thr)" ""
"0000786307" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" ""
"0000786318" "00001847" "90" "3210" "0" "3211" "0" "c.3210_3211insGT" "r.(?)" "p.(Ser1071ValfsTer14)" ""
"0000786324" "00001847" "90" "3352" "0" "3352" "0" "c.3352C>G" "r.(?)" "p.(His1118Asp)" ""
"0000786369" "00001847" "90" "1317" "0" "1317" "0" "c.1317G>A" "r.(?)" "p.(Trp439Ter)" ""
"0000787732" "00001847" "50" "5413" "0" "5413" "0" "c.5413A>G" "r.(?)" "p.(Asn1805Asp)" ""
"0000788353" "00001847" "50" "6119" "0" "6119" "0" "c.6119G>A" "r.(?)" "p.(Arg2040Gln)" "44"
"0000788357" "00001847" "50" "1294" "0" "1294" "0" "c.1294G>A" "r.(?)" "p.(Glu432Lys)" "10"
"0000788394" "00001847" "50" "5593" "0" "5593" "0" "c.5593C>T" "r.(?)" "p.(His1865Tyr)" "40"
"0000788482" "00001847" "50" "1294" "0" "1294" "0" "c.1294G>A" "r.(?)" "p.(Glu432Lys)" "10"
"0000788526" "00001847" "90" "6088" "0" "6088" "0" "c.6088C>T" "r.(?)" "p.(Arg2030Ter)" ""
"0000789711" "00001847" "30" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000789714" "00001847" "30" "2690" "0" "2690" "0" "c.2690C>T" "r.(?)" "p.(Thr897Ile)" "18"
"0000789867" "00001847" "70" "3364" "0" "3364" "0" "c.3364G>A" "r.(?)" "p.(Glu1122Lys)" "23"
"0000789868" "00001847" "70" "4773" "3" "4773" "3" "c.4773+3A>G" "r.spl?" "p.?" "33i"
"0000790396" "00001847" "50" "2828" "0" "2828" "0" "c.2828G>A" "r.(?)" "p.(Arg943Gln)" ""
"0000790445" "00001847" "50" "5714" "4" "5714" "4" "c.5714+4C>T" "r.spl?" "p.?" ""
"0000790448" "00001847" "50" "872" "0" "872" "0" "c.872C>T" "r.(?)" "p.(Pro291Leu)" ""
"0000790449" "00001847" "50" "2828" "0" "2828" "0" "c.2828G>A" "r.(?)" "p.(Arg943Gln)" ""
"0000790452" "00001847" "50" "2828" "0" "2828" "0" "c.2828G>A" "r.(?)" "p.(Arg943Gln)" ""
"0000790476" "00001847" "50" "2690" "0" "2690" "0" "c.2690C>T" "r.(?)" "p.(Thr897Ile)" ""
"0000790501" "00001847" "50" "1411" "0" "1411" "0" "c.1411G>A" "r.(?)" "p.(Glu471Lys)" ""
"0000790514" "00001847" "50" "4283" "0" "4283" "0" "c.4283C>T" "r.(?)" "p.(Thr1428Met)" ""
"0000790524" "00001847" "50" "1552" "0" "1552" "0" "c.1552G>A" "r.(?)" "p.(Glu518Lys)" ""
"0000790556" "00001847" "50" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000790577" "00001847" "50" "2828" "0" "2828" "0" "c.2828G>A" "r.(?)" "p.(Arg943Gln)" ""
"0000790651" "00001847" "50" "5755" "0" "5755" "0" "c.5755G>T" "r.(?)" "p.(Asp1919Tyr)" ""
"0000790652" "00001847" "50" "766" "0" "766" "0" "c.766G>T" "r.(?)" "p.(Val256Leu)" ""
"0000790953" "00001847" "90" "6148" "0" "6148" "0" "c.6148G>A" "r.(?)" "p.(Val2050Ile)" "45"
"0000790955" "00001847" "90" "6148" "0" "6148" "0" "c.6148G>A" "r.(?)" "p.(Val2050Ile)" "45"
"0000790959" "00001847" "90" "6148" "0" "6148" "0" "c.6148G>A" "r.(?)" "p.(Val2050Ile)" "45"
"0000791151" "00001847" "70" "6319" "0" "6325" "0" "c.6319_6325del" "r.(?)" "p.(Arg2107Cysfs*6)" "46"
"0000791182" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000791220" "00001847" "90" "6148" "0" "6148" "0" "c.6148G>C" "r.(?)" "p.(Val2050Leu)" "45"
"0000791243" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000791258" "00001847" "50" "454" "0" "454" "0" "c.454C>T" "r.(?)" "p.(Arg152*)" "5"
"0000791627" "00001847" "50" "5714" "4" "5714" "4" "c.5714+4C>T" "r.(?)" "p.(?)" "40i"
"0000791629" "00001847" "50" "4715" "0" "4715" "0" "c.4715C>T" "r.(?)" "p.(Thr1572Met)" "33"
"0000791630" "00001847" "50" "4715" "0" "4715" "0" "c.4715C>T" "r.(?)" "p.(Thr1572Met)" "33"
"0000792214" "00001847" "90" "302" "4" "302" "4" "c.302+4A>C" "r.spl?" "p.?" "3i"
"0000792215" "00001847" "90" "302" "4" "302" "4" "c.302+4A>C" "r.spl?" "p.?" "3i"
"0000792254" "00001847" "50" "1268" "0" "1268" "0" "c.1268A>G" "r.(?)" "p.(His423Arg)" "10"
"0000792255" "00001847" "50" "6764" "0" "6764" "0" "c.6764G>T" "r.(?)" "p.(Ser2255Ile)" "49"
"0000792256" "00001847" "70" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "23"
"0000792257" "00001847" "50" "1204" "0" "1204" "0" "c.1204C>T" "r.(?)" "p.(Pro402Ser)" "9"
"0000792276" "00001847" "90" "214" "0" "214" "0" "c.214G>A" "r.(?)" "p.(Gly72Arg)" "3"
"0000792277" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.?" "38i"
"0000792278" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.(=)" "p.(=)" "6"
"0000792279" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.(Gly863Ala)" "17"
"0000792281" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.(=)" "p.(=)" "6"
"0000792282" "00001847" "90" "5313" "-10" "5313" "-10" "c.5313-10T>C" "r.(=)" "p.(=)" "37i"
"0000792283" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.(=)" "p.(=)" "6"
"0000792284" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.(=)" "p.(=)" "6"
"0000792285" "00001847" "90" "1822" "0" "1822" "0" "c.1822T>A" "r.(?)" "p.(Phe608Ile)" "13"
"0000792286" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000792287" "00001847" "90" "4539" "1" "4539" "1" "c.4539+1G>T" "r.spl?" "p.?" "30i"
"0000792288" "00001847" "90" "5762" "0" "5763" "0" "c.5762_5763dup" "r.(?)" "p.(Ala1922Trpfs*18)" "41"
"0000792289" "00001847" "90" "6229" "0" "6229" "0" "c.6229C>G" "r.(?)" "p.(Arg2077Gly)" "45"
"0000792290" "00001847" "90" "6449" "0" "6449" "0" "c.6449G>A" "r.(?)" "p.(Cys2150Tyr)" "47"
"0000792291" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000792293" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.(=)" "p.(=)" "6"
"0000792294" "00001847" "90" "2690" "0" "2690" "0" "c.2690C>T" "r.(?)" "p.(Thr897Ile)" "18"
"0000792295" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.?" "38i"
"0000792296" "00001847" "90" "5908" "0" "5908" "0" "c.5908C>T" "r.(?)" "p.(Leu1970Phe)" "43"
"0000792297" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.(Gly863Ala)" "17"
"0000792298" "00001847" "90" "2828" "0" "2828" "0" "c.2828G>A" "r.(?)" "p.(Arg943Gln)" "19"
"0000792299" "00001847" "10" "2701" "0" "2701" "0" "c.2701A>G" "r.(?)" "p.(Thr901Ala)" "18"
"0000792300" "00001847" "10" "3813" "0" "3813" "0" "c.3813G>C" "r.(?)" "p.(Glu1271Asp)" "25"
"0000792328" "00001847" "70" "3470" "0" "3470" "0" "c.3470T>G" "r.(?)" "p.(Leu1157*)" ""
"0000792329" "00001847" "70" "1933" "0" "1933" "0" "c.1933G>A" "r.(?)" "p.(Asp645Asn)" ""
"0000792349" "00001847" "70" "880" "0" "880" "0" "c.880C>T" "r.(?)" "p.(Gln294*)" ""
"0000792350" "00001847" "70" "4748" "0" "4748" "0" "c.4748T>C" "r.(?)" "p.(Leu1583Pro)" ""
"0000792403" "00001847" "70" "3470" "0" "3470" "0" "c.3470T>G" "r.(?)" "p.(Leu1157*)" ""
"0000792404" "00001847" "70" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408*)" ""
"0000792407" "00001847" "70" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" ""
"0000793745" "00001847" "50" "3352" "0" "3352" "0" "c.3352C>G" "r.(?)" "p.(His1118Asp)" "23"
"0000793875" "00001847" "50" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" "35"
"0000793876" "00001847" "50" "1584" "0" "1584" "0" "c.1584C>A" "r.(?)" "p.(Tyr528*)" "12"
"0000793877" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000793878" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000793899" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000794023" "00001847" "90" "834" "0" "834" "0" "c.834del" "r.(?)" "p.(Asp279Ilefs*21)" "7"
"0000794046" "00001847" "70" "6118" "0" "6118" "0" "c.6118C>T" "r.(?)" "p.(Arg2040*)" ""
"0000794047" "00001847" "70" "664" "0" "664" "0" "c.664dup" "r.(?)" "p.(Ala222Glyfs*58)" ""
"0000794054" "00001847" "70" "5312" "0" "5312" "0" "c.5312G>T" "r.(?)" "p.(Gly1771Val)" ""
"0000794055" "00001847" "70" "1957" "0" "1957" "0" "c.1957C>T" "r.(?)" "p.(Arg653Cys)" ""
"0000794079" "00001847" "70" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" ""
"0000794080" "00001847" "70" "763" "0" "763" "0" "c.763C>T" "r.(?)" "p.(Arg255Cys)" ""
"0000794083" "00001847" "70" "880" "0" "880" "0" "c.880C>T" "r.(?)" "p.(Gln294*)" ""
"0000794084" "00001847" "70" "768" "0" "768" "0" "c.768G>A" "r.(=)" "p.(=)" ""
"0000794085" "00001847" "70" "3035" "0" "3037" "0" "c.3035_3037del" "r.(?)" "p.(Asn1012del)" ""
"0000794086" "00001847" "70" "880" "0" "880" "0" "c.880C>T" "r.(?)" "p.(Gln294*)" ""
"0000794092" "00001847" "70" "3623" "0" "3623" "0" "c.3623T>G" "r.(?)" "p.(Leu1208Arg)" ""
"0000794093" "00001847" "70" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408*)" ""
"0000794109" "00001847" "70" "4762" "0" "4762" "0" "c.4762A>T" "r.(?)" "p.(Asn1588Tyr)" ""
"0000794110" "00001847" "70" "4748" "0" "4748" "0" "c.4748T>C" "r.(?)" "p.(Leu1583Pro)" ""
"0000794140" "00001847" "70" "4553" "0" "4553" "0" "c.4553G>A" "r.(?)" "p.(Ser1518Asn)" ""
"0000794210" "00001847" "70" "1906" "0" "1906" "0" "c.1906C>A" "r.(?)" "p.(Gln636Lys)" ""
"0000794211" "00001847" "70" "1522" "0" "1522" "0" "c.1522C>T" "r.(?)" "p.(Arg508Cys)" ""
"0000794228" "00001847" "70" "4383" "0" "4383" "0" "c.4383G>A" "r.(?)" "p.(Trp1461*)" ""
"0000794229" "00001847" "70" "880" "0" "880" "0" "c.880C>T" "r.(?)" "p.(Gln294*)" ""
"0000794230" "00001847" "70" "880" "0" "880" "0" "c.880C>T" "r.(?)" "p.(Gln294*)" ""
"0000794231" "00001847" "70" "454" "0" "454" "0" "c.454C>T" "r.(?)" "p.(Arg152*)" ""
"0000794237" "00001847" "70" "1699" "0" "1699" "0" "c.1699G>A" "r.(?)" "p.(Val567Met)" ""
"0000794238" "00001847" "70" "2948" "0" "2948" "0" "c.2948C>T" "r.(?)" "p.(Thr983Ile)" ""
"0000794274" "00001847" "70" "2424" "0" "2424" "0" "c.2424C>G" "r.(?)" "p.(Tyr808*)" ""
"0000794275" "00001847" "70" "6389" "0" "6389" "0" "c.6389T>A" "r.(?)" "p.(Met2130Lys)" ""
"0000794708" "00001847" "70" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" ""
"0000794709" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000794710" "00001847" "70" "2947" "0" "2947" "0" "c.2947A>G" "r.(?)" "p.(Thr983Ala)" ""
"0000794711" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.(Gly863Ala)" ""
"0000794712" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.(Gly863Ala)" ""
"0000794713" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.(Gly863Ala)" ""
"0000794714" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.(Gly863Ala)" ""
"0000794715" "00001847" "70" "2546" "0" "2546" "0" "c.2546T>C" "r.(?)" "p.(Val849Ala)" ""
"0000794763" "00001847" "70" "1921" "0" "1921" "0" "c.1921T>G" "r.(?)" "p.(Cys641Gly)" ""
"0000794764" "00001847" "70" "6289" "0" "6289" "0" "c.6289C>T" "r.(?)" "p.(Pro2097Ser)" ""
"0000794772" "00001847" "70" "1357" "-1" "1357" "-1" "c.1357-1G>C" "r.spl?" "p.?" ""
"0000794773" "00001847" "70" "4383" "0" "4383" "0" "c.4383G>A" "r.(?)" "p.(Trp1461*)" ""
"0000794774" "00001847" "70" "1357" "-1" "1357" "-1" "c.1357-1G>C" "r.spl?" "p.?" ""
"0000794775" "00001847" "70" "4383" "0" "4383" "0" "c.4383G>A" "r.(?)" "p.(Trp1461*)" ""
"0000794777" "00001847" "70" "1357" "-1" "1357" "-1" "c.1357-1G>C" "r.spl?" "p.?" ""
"0000794778" "00001847" "70" "4748" "0" "4748" "0" "c.4748T>C" "r.(?)" "p.(Leu1583Pro)" ""
"0000794782" "00001847" "70" "1357" "-1" "1357" "-1" "c.1357-1G>C" "r.spl?" "p.?" ""
"0000794783" "00001847" "70" "2948" "0" "2948" "0" "c.2948C>T" "r.(?)" "p.(Thr983Ile)" ""
"0000794810" "00001847" "70" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" ""
"0000794830" "00001847" "70" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" ""
"0000794831" "00001847" "70" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" ""
"0000794878" "00001847" "70" "2588" "-1" "2653" "1" "c.(2587+1_2588-1)_(2653+1_2654-1)del" "r.spl" "p.?" ""
"0000795013" "00001847" "90" "6389" "0" "6389" "0" "c.6389T>A" "r.(?)" "p.(Met2130Lys)" "47"
"0000795014" "00001847" "90" "5646" "0" "5646" "0" "c.5646G>A" "r.(?)" "p.(Met1882Ile)" "40"
"0000795015" "00001847" "10" "5682" "0" "5682" "0" "c.5682G>C" "r.(=)" "p.(=)" "40"
"0000795058" "00001847" "90" "6658" "0" "6658" "0" "c.6658C>T" "r.(?)" "p.(Gln2220*)" "48"
"0000795932" "00001847" "90" "6148" "-1" "6479" "1" "c.(6147+1_6148-1)_(6479+1_6480-1)del" "r.spl?" "p.?" "44i_47i"
"0000796053" "00001847" "90" "4773" "3" "4773" "3" "c.4773+3A>G" "r.spl?" "p.?" "33i"
"0000796054" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.?" "38i"
"0000796055" "00001847" "90" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000796056" "00001847" "90" "4773" "3" "4773" "3" "c.4773+3A>G" "r.spl?" "p.?" "33i"
"0000796058" "00001847" "90" "4773" "3" "4773" "3" "c.4773+3A>G" "r.spl?" "p.?" "33i"
"0000796061" "00001847" "90" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000796062" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.?" "38i"
"0000796683" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000796690" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000796702" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000796716" "00001847" "70" "2353" "0" "2353" "0" "c.2353C>T" "r.(?)" "p.(Arg785Cys)" "15"
"0000796732" "00001847" "90" "1" "0" "1" "0" "c.1A>G" "r.?" "p.?" "1"
"0000796740" "00001847" "70" "2184" "0" "2184" "0" "c.2184C>A" "r.(?)" "p.(Ser728Arg)" "15"
"0000796760" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000796774" "00001847" "70" "618" "0" "618" "0" "c.618C>G" "r.(?)" "p.(Ser206Arg)" "6"
"0000796782" "00001847" "70" "1654" "0" "1654" "0" "c.1654G>A" "r.(?)" "p.(Val552Ile)" "12"
"0000796783" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl?" "p.?" "40i"
"0000796787" "00001847" "90" "1140" "0" "1140" "0" "c.1140T>A" "r.(?)" "p.(Asn380Lys)" "9"
"0000796790" "00001847" "90" "5642" "0" "5642" "0" "c.5642C>T" "r.(?)" "p.(Ala1881Val)" "40"
"0000796791" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000796803" "00001847" "70" "1927" "0" "1927" "0" "c.1927G>A" "r.(?)" "p.(Val643Met)" "13"
"0000796806" "00001847" "70" "4771" "0" "4771" "0" "c.4771G>A" "r.(?)" "p.(Gly1591Arg)" "33"
"0000796817" "00001847" "70" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "13"
"0000796819" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000796829" "00001847" "70" "3482" "0" "3482" "0" "c.3482G>T" "r.(?)" "p.(Arg1161Leu)" "23"
"0000796830" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000796839" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000796844" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000796846" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000796849" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000796853" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000796859" "00001847" "70" "1927" "0" "1927" "0" "c.1927G>A" "r.(?)" "p.(Val643Met)" "13"
"0000796860" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000796861" "00001847" "70" "6529" "0" "6529" "0" "c.6529G>A" "r.(?)" "p.(Asp2177Asn)" "48"
"0000796984" "00001847" "90" "287" "0" "287" "0" "c.287del" "r.(?)" "p.(Asn96Thrfs*19)" "3"
"0000796985" "00001847" "90" "6148" "0" "6148" "0" "c.6148G>C" "r.(?)" "p.(Val2050Leu)" "45"
"0000796986" "00001847" "90" "4720" "0" "4720" "0" "c.4720G>T" "r.(?)" "p.(Glu1574*)" "33"
"0000796987" "00001847" "90" "950" "0" "950" "0" "c.950del" "r.(?)" "p.(Gly317Alafs*57)" "8"
"0000796988" "00001847" "90" "2285" "0" "2285" "0" "c.2285C>A" "r.(?)" "p.(Ala762Glu)" "15"
"0000797101" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000797167" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000797168" "00001847" "90" "1891" "0" "1891" "0" "c.1891G>A" "r.(?)" "p.(Gly631Arg)" "13"
"0000797188" "00001847" "70" "1765" "0" "1765" "0" "c.1765del" "r.(?)" "p.(Trp589Glyfs*60)" ""
"0000797189" "00001847" "70" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.[T1821Vfs*13,T1821Dfs*6]" ""
"0000797190" "00001847" "50" "3259" "0" "3259" "0" "c.3259G>A" "r.(?)" "p.(Glu1087Lys)" ""
"0000797191" "00001847" "70" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973*)" ""
"0000797209" "00001847" "70" "1765" "0" "1765" "0" "c.1765del" "r.(?)" "p.(Trp589Glyfs*60)" ""
"0000797210" "00001847" "50" "3377" "0" "3377" "0" "c.3377T>C" "r.(?)" "p.(Leu1126Pro)" ""
"0000797211" "00001847" "70" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973*)" ""
"0000797524" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000797629" "00001847" "70" "6148" "0" "6148" "0" "c.6148G>C" "r.(?)" "p.(Val2050Leu)" ""
"0000797641" "00001847" "90" "5908" "0" "5908" "0" "c.5908C>T" "r.(?)" "p.(Leu1970Phe)" ""
"0000797675" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000797676" "00001847" "70" "3259" "0" "3259" "0" "c.3259G>A" "r.(?)" "p.(Glu1087Lys)" ""
"0000797762" "00001847" "70" "6230" "0" "6230" "0" "c.6230G>A" "r.(?)" "p.(Arg2077Gln)" ""
"0000797765" "00001847" "50" "317" "0" "317" "0" "c.317A>T" "r.(?)" "p.(Tyr106Phe)" ""
"0000797766" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.(Gly863Ala)" ""
"0000797768" "00001847" "90" "5908" "0" "5908" "0" "c.5908C>T" "r.(?)" "p.(Leu1970Phe)" ""
"0000797977" "00001847" "70" "768" "0" "768" "0" "c.768G>T" "r.spl" "p.(=,?)" ""
"0000797997" "00001847" "90" "3808" "0" "3808" "0" "c.3808G>T" "r.(?)" "p.(Glu1270*)" ""
"0000798130" "00001847" "50" "466" "0" "466" "0" "c.466A>G" "r.(?)" "p.(Ile156Val)" ""
"0000798133" "00001847" "50" "6148" "0" "6148" "0" "c.6148G>C" "r.(?)" "p.(Val2050Leu)" ""
"0000798167" "00001847" "50" "5881" "0" "5881" "0" "c.5881G>A" "r.(?)" "p.(Gly1961Arg)" ""
"0000798168" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000798170" "00001847" "50" "5908" "0" "5908" "0" "c.5908C>T" "r.(?)" "p.(Leu1970Phe)" ""
"0000798171" "00001847" "50" "6148" "0" "6148" "0" "c.6148G>C" "r.(?)" "p.(Val2050Leu)" ""
"0000798172" "00001847" "50" "6148" "0" "6148" "0" "c.6148G>C" "r.(?)" "p.(Val2050Leu)" ""
"0000798173" "00001847" "50" "66" "2044" "66" "2044" "c.66+2044G>A" "r.spl?" "p.(?)" ""
"0000798179" "00001847" "50" "466" "0" "466" "0" "c.466A>G" "r.(?)" "p.(Ile156Val)" ""
"0000798181" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000798182" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000798183" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000798184" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000798185" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000798186" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000798187" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Valfs*13,Thr1821Aspfs*6]" "38i"
"0000798188" "00001847" "90" "4537" "0" "4537" "0" "c.4537dup" "r.(?)" "p.(Gln1513Profs*42)" "30"
"0000798189" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Valfs*13,Thr1821Aspfs*6]" "38i"
"0000798190" "00001847" "90" "4537" "0" "4537" "0" "c.4537dup" "r.(?)" "p.(Gln1513Profs*42)" "30"
"0000798191" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Valfs*13,Thr1821Aspfs*6]" "38i"
"0000798192" "00001847" "90" "4537" "0" "4537" "0" "c.4537dup" "r.(?)" "p.(Gln1513Profs*42)" "30"
"0000798193" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000798194" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000798195" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "12"
"0000798196" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000798197" "00001847" "90" "4234" "0" "4234" "0" "c.4234C>T" "r.(?)" "p.(Gln1412*)" "28"
"0000798198" "00001847" "90" "4234" "0" "4234" "0" "c.4234C>T" "r.(?)" "p.(Gln1412*)" "28"
"0000798199" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.[=,Glu1863Leufs*33]" "40i"
"0000798200" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "12"
"0000798201" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "21"
"0000798202" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000798203" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl?" "p.[=,Glu1863Leufs*33]" "12"
"0000798204" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "40i"
"0000798205" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.[Gly863Ala,Gly863del]" "17"
"0000798206" "00001847" "70" "194" "0" "194" "0" "c.194G>A" "r.(?)" "p.(Gly65Glu)" "3"
"0000798207" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000798208" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000798209" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000798210" "00001847" "70" "194" "0" "194" "0" "c.194G>A" "r.(?)" "p.(Gly65Glu)" "3"
"0000798211" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000798212" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000798213" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000798214" "00001847" "90" "2041" "0" "2041" "0" "c.2041C>T" "r.(?)" "p.(Arg681*)" "14"
"0000798215" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "14"
"0000798216" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000798217" "00001847" "70" "5684" "0" "5685" "0" "c.5684_5685del" "r.(?)" "p.(Leu1895Argfs*16)" "40"
"0000798218" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000798219" "00001847" "90" "4462" "0" "4462" "0" "c.4462T>C" "r.(?)" "p.(Cys1488Arg)" "12"
"0000798220" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "30"
"0000798221" "00001847" "70" "1211" "0" "1211" "0" "c.1211C>G" "r.(?)" "p.(Ser404*)" "9"
"0000798222" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000798223" "00001847" "50" "6148" "0" "6148" "0" "c.6148G>C" "r.(?)" "p.(Val2050Leu)" "45"
"0000798224" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.[Gly863Ala,Gly863del]" "17"
"0000798225" "00001847" "70" "454" "0" "454" "0" "c.454C>T" "r.(?)" "p.(Arg152*)" "5"
"0000798226" "00001847" "90" "2626" "0" "2626" "0" "c.2626C>T" "r.(?)" "p.(Gln876*)" "17"
"0000798227" "00001847" "90" "5196" "1" "5196" "1" "c.5196+1G>A" "r.spl" "p.?" "36i"
"0000798228" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000798229" "00001847" "90" "3056" "0" "3056" "0" "c.3056C>T" "r.(?)" "p.(Thr1019Met)" "12"
"0000798230" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "21"
"0000798231" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000798232" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000798233" "00001847" "90" "4234" "0" "4234" "0" "c.4234C>T" "r.(?)" "p.(Gln1412*)" "28"
"0000798234" "00001847" "50" "710" "0" "710" "0" "c.710T>C" "r.(?)" "p.(Leu237Pro)" "6"
"0000798235" "00001847" "90" "0" "0" "0" "0" "c.(2653+1_2654-1)_*400{0}" "r.?" "p.(Gly885Valfs*71)" "17i_50_"
"0000798236" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "17"
"0000798237" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.[Gly863Ala,Gly863del]" "40"
"0000798238" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000798239" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "12"
"0000798240" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "28"
"0000798241" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000798242" "00001847" "90" "4234" "0" "4234" "0" "c.4234C>T" "r.(?)" "p.(Gln1412*)" "12"
"0000798243" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "28"
"0000798244" "00001847" "90" "3413" "0" "3413" "0" "c.3413T>A" "r.(?)" "p.(Leu1138His)" "23"
"0000798245" "00001847" "90" "61" "0" "61" "0" "c.61C>T" "r.(?)" "p.(Gln21*)" "1"
"0000798246" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000798247" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000798248" "00001847" "90" "4234" "0" "4234" "0" "c.4234C>T" "r.(?)" "p.(Gln1412*)" "28"
"0000798249" "00001847" "90" "3364" "0" "3364" "0" "c.3364G>T" "r.(?)" "p.(Glu1122*)" "23"
"0000798250" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000798251" "00001847" "90" "4234" "0" "4234" "0" "c.4234C>T" "r.(?)" "p.(Gln1412*)" "28"
"0000798252" "00001847" "90" "454" "0" "454" "0" "c.454C>T" "r.(?)" "p.(Arg152*)" "5"
"0000798253" "00001847" "70" "66" "0" "66" "0" "c.66G>A" "r.(?)" "p.(Lys22=,?)" "1"
"0000798254" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.spl" "p.(Ala1038Val)" "21"
"0000798255" "00001847" "90" "4234" "0" "4234" "0" "c.4234C>T" "r.(?)" "p.(Gln1412*)" "12"
"0000798256" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "28"
"0000798257" "00001847" "90" "5196" "1" "5196" "1" "c.5196+1G>A" "r.spl" "p.?" "36i"
"0000798258" "00001847" "90" "5196" "1" "5196" "1" "c.5196+1G>A" "r.spl" "p.?" "36i"
"0000798259" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.spl" "p.(Ala1038Val)" "21"
"0000798260" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000798261" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000798262" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000798263" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.spl" "p.(Ala1038Val)" "21"
"0000798264" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "12"
"0000798265" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "42"
"0000798266" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.spl" "p.(Ala1038Val)" "21"
"0000798267" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "12"
"0000798268" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "42"
"0000798269" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.spl" "p.(Ala1038Val)" "21"
"0000798270" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl?" "p.[=,Glu1863Leufs*33]" "12"
"0000798271" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "40i"
"0000798272" "00001847" "90" "4234" "0" "4234" "0" "c.4234C>T" "r.spl" "p.(Gln1412*)" "28"
"0000798273" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.[Gly863Ala,Gly863del]" "17"
"0000798274" "00001847" "90" "4234" "0" "4234" "0" "c.4234C>T" "r.spl" "p.(Gln1412*)" "28"
"0000798275" "00001847" "50" "1654" "0" "1654" "0" "c.1654G>A" "r.(?)" "p.(Val552Ile)" "12"
"0000798276" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.spl" "p.(Asn1868Ile)" "40"
"0000798277" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Valfs*13,Thr1821Aspfs*6]" "17"
"0000798278" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.[Gly863Ala,Gly863del]" "38i"
"0000798279" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.spl" "p.(Asn1868Ile)" "40"
"0000798280" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Valfs*13,Thr1821Aspfs*6]" "17"
"0000798281" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.[Gly863Ala,Gly863del]" "38i"
"0000798282" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.spl" "p.(Ala1038Val)" "21"
"0000798283" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "12"
"0000798284" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "42"
"0000798285" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.spl" "p.(Ala1038Val)" "21"
"0000798286" "00001847" "90" "4234" "0" "4234" "0" "c.4234C>T" "r.(?)" "p.(Gln1412*)" "12"
"0000798287" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "28"
"0000798288" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000798289" "00001847" "90" "4234" "0" "4234" "0" "c.4234C>T" "r.(?)" "p.(Gln1412*)" "12"
"0000798290" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "28"
"0000798291" "00001847" "70" "4919" "0" "4919" "0" "c.4919G>A" "r.spl" "p.(Arg1640Gln)" "35"
"0000798292" "00001847" "70" "3413" "0" "3413" "0" "c.3413T>A" "r.(?)" "p.(Leu1138His)" "23"
"0000798293" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.spl" "p.(Leu541Pro)" "21"
"0000798294" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "12"
"0000798295" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "12"
"0000798296" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "21"
"0000798297" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.spl" "p.(Ala1038Val)" "21"
"0000798298" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "12"
"0000798299" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "42"
"0000798300" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000798301" "00001847" "70" "5196" "1" "5196" "1" "c.5196+1G>A" "r.spl" "p.?" "12"
"0000798302" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "36i"
"0000798303" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl?" "p.[=,Glu1863Leufs*33]" "40i"
"0000798304" "00001847" "90" "3259" "0" "3259" "0" "c.3259G>A" "r.(?)" "p.(Glu1087Lys)" "22"
"0000798305" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000798306" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000798307" "00001847" "90" "3261" "0" "3261" "0" "c.3261A>C" "r.(?)" "p.(Glu1087Asp)" "22"
"0000798308" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000798309" "00001847" "90" "4234" "0" "4234" "0" "c.4234C>T" "r.(?)" "p.(Gln1412*)" "12"
"0000798310" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "28"
"0000798311" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.[=,Glu1863Leufs*33]" "40i"
"0000798312" "00001847" "90" "4234" "0" "4234" "0" "c.4234C>T" "r.(?)" "p.(Gln1412*)" "28"
"0000798313" "00001847" "90" "5196" "1" "5196" "1" "c.5196+1G>A" "r.spl" "p.?" "36i"
"0000798314" "00001847" "70" "4793" "0" "4793" "0" "c.4793C>A" "r.(?)" "p.(Ala1598Asp)" "34"
"0000798315" "00001847" "70" "4070" "0" "4070" "0" "c.4070C>T" "r.spl?" "p.(Ala1357Val)" "27"
"0000798316" "00001847" "90" "3413" "0" "3413" "0" "c.3413T>A" "r.(?)" "p.(Leu1138His)" "23"
"0000798317" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.spl?" "p.(Ala1038Val)" "21"
"0000798318" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000798319" "00001847" "90" "4918" "0" "4918" "0" "c.4918C>T" "r.spl?" "p.(Arg1640Trp)" "35"
"0000798320" "00001847" "90" "1937" "1" "1937" "1" "c.1937+1G>A" "r.spl" "p.?" "13i"
"0000798321" "00001847" "90" "4234" "0" "4234" "0" "c.4234C>T" "r.spl?" "p.(Gln1412*)" "28"
"0000798322" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000798323" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Valfs*13,Thr1821Aspfs*6]" "12"
"0000798324" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "38i"
"0000798325" "00001847" "50" "5887" "0" "5887" "0" "c.5887C>T" "r.(?)" "p.(Arg1963Cys)" "42"
"0000798326" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000798328" "00001847" "50" "1411" "0" "1411" "0" "c.1411G>A" "r.(?)" "p.(Glu471Lys)" "11"
"0000798329" "00001847" "50" "587" "0" "587" "0" "c.587C>T" "r.(?)" "p.(Pro196Leu)" "6"
"0000798330" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000798331" "00001847" "70" "5899" "-3" "5899" "-3" "c.5899-3T>G" "r.spl?" "p.(?)" "12"
"0000798332" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "42i"
"0000798333" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000798334" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "8"
"0000798335" "00001847" "70" "1022" "0" "1022" "0" "c.1022A>G" "r.(?)" "p.(Glu341Gly)" "12"
"0000798336" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000798337" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Valfs*13,Thr1821Aspfs*6]" "12"
"0000798338" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "38i"
"0000798339" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000798340" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.[Gly863Ala,Gly863del]" "12"
"0000798341" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "17"
"0000798342" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000798343" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000798344" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000798345" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000798346" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000798347" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000798348" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000798349" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000798350" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000798351" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.[=,Glu1863Leufs*33]" "12"
"0000798352" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "40i"
"0000798353" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000798354" "00001847" "90" "4352" "1" "4352" "1" "c.4352+1G>A" "r.(?)" "p.(?)" "12"
"0000798355" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "29i"
"0000798356" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000798357" "00001847" "90" "4352" "1" "4352" "1" "c.4352+1G>A" "r.spl" "p.?" "12"
"0000798358" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "29i"
"0000798431" "00001847" "70" "3595" "0" "3595" "0" "c.3595C>T" "r.(?)" "p.(Gln1199*)" "24"
"0000798439" "00001847" "70" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000798445" "00001847" "70" "4297" "0" "4297" "0" "c.4297G>A" "r.(?)" "p.(Val1433Ile)" "29"
"0000798446" "00001847" "70" "4793" "0" "4793" "0" "c.4793C>A" "r.(?)" "p.(Ala1598Asp)" "34"
"0000798447" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000799558" "00001847" "30" "6730" "-19" "6730" "-19" "c.6730-19G>A" "r.(=)" "p.(=)" ""
"0000799559" "00001847" "50" "6124" "0" "6124" "0" "c.6124G>A" "r.(?)" "p.(Val2042Ile)" ""
"0000799560" "00001847" "50" "6068" "0" "6068" "0" "c.6068T>C" "r.(?)" "p.(Ile2023Thr)" ""
"0000799561" "00001847" "50" "5586" "0" "5586" "0" "c.5586T>A" "r.(?)" "p.(Gly1862=)" ""
"0000799562" "00001847" "90" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.(=)" "p.(=)" ""
"0000799563" "00001847" "70" "4539" "2064" "4539" "2064" "c.4539+2064C>T" "r.(=)" "p.(=)" ""
"0000799564" "00001847" "90" "4436" "0" "4436" "0" "c.4436G>A" "r.(?)" "p.(Trp1479Ter)" ""
"0000799565" "00001847" "30" "4128" "11" "4128" "11" "c.4128+11C>T" "r.(=)" "p.(=)" ""
"0000799566" "00001847" "30" "3523" "-19" "3523" "-19" "c.3523-19T>G" "r.(=)" "p.(=)" ""
"0000799567" "00001847" "30" "1937" "16" "1937" "16" "c.1937+16G>A" "r.(=)" "p.(=)" ""
"0000799568" "00001847" "30" "1654" "0" "1654" "0" "c.1654G>A" "r.(?)" "p.(Val552Ile)" ""
"0000799569" "00001847" "30" "1654" "0" "1654" "0" "c.1654G>A" "r.(?)" "p.(Val552Ile)" ""
"0000799570" "00001847" "50" "1506" "0" "1514" "0" "c.1506_1514del" "r.(?)" "p.(Phe503_Ile505del)" ""
"0000799571" "00001847" "30" "981" "0" "981" "0" "c.981C>T" "r.(?)" "p.(Pro327=)" ""
"0000799572" "00001847" "50" "455" "0" "455" "0" "c.455G>A" "r.(?)" "p.(Arg152Gln)" ""
"0000799573" "00001847" "50" "288" "0" "288" "0" "c.288C>A" "r.(?)" "p.(Asn96Lys)" ""
"0000811363" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000811364" "00001847" "70" "2570" "0" "2570" "0" "c.2570T>C" "r.(?)" "p.(Leu857Pro)" ""
"0000811365" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000811366" "00001847" "70" "3898" "0" "3898" "0" "c.3898C>T" "r.(?)" "p.(Arg1300*)" ""
"0000811367" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000811368" "00001847" "70" "2570" "0" "2570" "0" "c.2570T>C" "r.(?)" "p.(Leu857Pro)" ""
"0000811369" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000811370" "00001847" "70" "2570" "0" "2570" "0" "c.2570T>C" "r.(?)" "p.(Leu857Pro)" ""
"0000811371" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000811372" "00001847" "70" "2570" "0" "2570" "0" "c.2570T>C" "r.(?)" "p.(Leu857Pro)" ""
"0000811373" "00001847" "70" "3623" "0" "3623" "0" "c.3623T>G" "r.(?)" "p.(Leu1208Arg)" ""
"0000811374" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000811375" "00001847" "70" "2570" "0" "2570" "0" "c.2570T>C" "r.(?)" "p.(Leu857Pro)" ""
"0000811376" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000811377" "00001847" "70" "2570" "0" "2570" "0" "c.2570T>C" "r.(?)" "p.(Leu857Pro)" ""
"0000811378" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000811379" "00001847" "70" "2570" "0" "2570" "0" "c.2570T>C" "r.(?)" "p.(Leu857Pro)" ""
"0000811380" "00001847" "70" "4567" "0" "4567" "0" "c.4567C>T" "r.(?)" "p.(Gln1523*)" ""
"0000811381" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000811382" "00001847" "70" "2570" "0" "2570" "0" "c.2570T>C" "r.(?)" "p.(Leu857Pro)" ""
"0000811383" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000811384" "00001847" "70" "2570" "0" "2570" "0" "c.2570T>C" "r.(?)" "p.(Leu857Pro)" ""
"0000811385" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000811386" "00001847" "70" "2570" "0" "2570" "0" "c.2570T>C" "r.(?)" "p.(Leu857Pro)" ""
"0000811387" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000811388" "00001847" "70" "3302" "0" "3302" "0" "c.3302G>A" "r.(?)" "p.(Trp1101*)" ""
"0000811493" "00001847" "50" "1906" "0" "1906" "0" "c.1906C>A" "r.(?)" "p.(Gln636Lys)" ""
"0000811500" "00001847" "50" "4748" "0" "4748" "0" "c.4748T>C" "r.(?)" "p.(Leu1583Pro)" ""
"0000811505" "00001847" "70" "6146" "0" "6146" "0" "c.6146del" "r.(?)" "p.(Lys2049ArgfsTer12)" ""
"0000811506" "00001847" "70" "6146" "0" "6146" "0" "c.6146del" "r.(?)" "p.(Lys2049ArgfsTer12)" ""
"0000811507" "00001847" "70" "3420" "0" "3420" "0" "c.3420C>G" "r.(?)" "p.(Cys1140Trp)" ""
"0000811508" "00001847" "70" "3420" "0" "3420" "0" "c.3420C>G" "r.(?)" "p.(Cys1140Trp)" ""
"0000811509" "00001847" "70" "3470" "0" "3470" "0" "c.3470T>G" "r.(?)" "p.(Leu1157Ter)" ""
"0000811510" "00001847" "50" "4762" "0" "4762" "0" "c.4762A>T" "r.(?)" "p.(Asn1588Tyr)" ""
"0000811527" "00001847" "70" "880" "0" "880" "0" "c.880C>T" "r.(?)" "p.(Gln294Ter)" ""
"0000811530" "00001847" "50" "1906" "0" "1906" "0" "c.1906C>A" "r.(?)" "p.(Gln636Lys)" ""
"0000811534" "00001847" "50" "1933" "0" "1933" "0" "c.1933G>A" "r.(?)" "p.(Asp645Asn)" ""
"0000811535" "00001847" "70" "3349" "0" "3349" "0" "c.3349A>G" "r.(?)" "p.(Thr1117Ala)" ""
"0000811536" "00001847" "50" "869" "0" "869" "0" "c.869G>A" "r.(?)" "p.(Arg290Gln)" ""
"0000811537" "00001847" "70" "3470" "0" "3470" "0" "c.3470T>G" "r.(?)" "p.(Leu1157Ter)" ""
"0000811539" "00001847" "70" "3342" "0" "3344" "0" "c.3342_3344del" "r.(?)" "p.(Ile1114del)" ""
"0000811540" "00001847" "70" "3342" "0" "3344" "0" "c.3342_3344del" "r.(?)" "p.(Ile1114del)" ""
"0000811756" "00001847" "70" "2888" "0" "2888" "0" "c.2888del" "r.(?)" "p.(Gly963AlafsTer14)" "19"
"0000811757" "00001847" "70" "4457" "0" "4457" "0" "c.4457C>T" "r.(?)" "p.(Pro1486Leu)" "30"
"0000811865" "00001847" "70" "5113" "0" "5113" "0" "c.5113C>T" "r.(?)" "p.(Arg1705Trp)" ""
"0000811876" "00001847" "70" "6196" "0" "6196" "0" "c.6196del" "r.(?)" "p.(Cys2066Alafs*49)" ""
"0000811879" "00001847" "70" "6119" "0" "6119" "0" "c.6119G>A" "r.(?)" "p.(Arg2040Gln)" ""
"0000811949" "00001847" "70" "214" "0" "214" "0" "c.214G>A" "r.(?)" "p.G72R" "p.(Gly72Arg)"
"0000811950" "00001847" "70" "1411" "0" "1411" "0" "c.1411G>A" "r.(?)" "p.E471K" "p.(Glu471Lys)"
"0000812012" "00001847" "70" "6179" "0" "6179" "0" "c.6179T>G" "r.(?)" "p.(Leu2060Arg)" "45"
"0000812053" "00001847" "70" "4253" "4" "4253" "4" "c.4253+4C>T" "r.4129_4253del" "p.(Ile1377Hisfs*3)" "28i"
"0000812058" "00001847" "70" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973*)" "43"
"0000812085" "00001847" "70" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000812096" "00001847" "70" "4297" "0" "4297" "0" "c.4297G>A" "r.(?)" "p.(Val1433Ile)" "29"
"0000812104" "00001847" "70" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.(Met1?)" "1"
"0000812105" "00001847" "70" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" "44"
"0000812106" "00001847" "70" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071Cysfs*14)" "22"
"0000812131" "00001847" "70" "6148" "0" "6148" "0" "c.6148G>C" "r.(?)" "p.(Val2050Leu)" "45"
"0000812147" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000812148" "00001847" "70" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000812155" "00001847" "70" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071Cysfs*14)" "22"
"0000812156" "00001847" "70" "4417" "0" "4417" "0" "c.4417C>A" "r.(?)" "p.(Leu1473Met)" "30"
"0000812157" "00001847" "70" "4234" "0" "4234" "0" "c.4234C>T" "r.(?)" "p.(Gln1412*)" "28"
"0000812158" "00001847" "70" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973*)" "43"
"0000812164" "00001847" "70" "1749" "0" "1749" "0" "c.1749G>C" "r.(?)" "p.(Lys583Asn)" "12"
"0000812165" "00001847" "70" "1555" "-1" "1937" "1" "c.(1554+1_1555-1)_(1937+1_1938-1)del" "r.?" "p.?" "11i_13i"
"0000812199" "00001847" "70" "2980" "0" "2980" "0" "c.2980A>G" "r.(?)" "p.(Ile994Val)" "20"
"0000812200" "00001847" "70" "5383" "0" "5383" "0" "c.5383T>G" "r.(?)" "p.(Leu1795Val)" "38"
"0000812203" "00001847" "70" "560" "0" "560" "0" "c.560G>A" "r.(?)" "p.(Arg187His)" "5"
"0000812204" "00001847" "70" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071Cysfs*14)" "22"
"0000812237" "00001847" "70" "4457" "0" "4457" "0" "c.4457C>T" "r.(?)" "p.(Pro1486Leu)" "30"
"0000812238" "00001847" "70" "5914" "0" "5914" "0" "c.5914G>A" "r.(?)" "p.(Gly1972Arg)" "43"
"0000812257" "00001847" "70" "2300" "0" "2300" "0" "c.2300T>A" "r.(?)" "p.(Val767Asp)" "15"
"0000812258" "00001847" "70" "5836" "-1" "5836" "-1" "c.5836-1G>C" "r.(?)" "p.(?)" "41i"
"0000812270" "00001847" "70" "1879" "0" "1879" "0" "c.1879G>T" "r.(?)" "p.(Glu627*)" "13"
"0000812271" "00001847" "70" "5819" "0" "5819" "0" "c.5819T>C" "r.(?)" "p.(Leu1940Pro)" "41"
"0000812280" "00001847" "70" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408*)" "9"
"0000812281" "00001847" "70" "5461" "-1" "5461" "-1" "c.5461-1G>T" "r.(?)" "p.(?)" "38i"
"0000812296" "00001847" "70" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000812300" "00001847" "70" "3056" "0" "3056" "0" "c.3056C>T" "r.(?)" "p.(Thr1019Met)" "21"
"0000812332" "00001847" "70" "613" "0" "613" "0" "c.613T>G" "r.(?)" "p.(Cys205Gly)" "6"
"0000812333" "00001847" "70" "5819" "0" "5819" "0" "c.5819T>C" "r.(?)" "p.(Leu1940Pro)" "41"
"0000812343" "00001847" "70" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000812349" "00001847" "70" "1364" "0" "1364" "0" "c.1364T>A" "r.(?)" "p.(Leu455Gln)" "11"
"0000812350" "00001847" "70" "4793" "0" "4793" "0" "c.4793C>A" "r.(?)" "p.(Ala1598Asp)" "34"
"0000812369" "00001847" "70" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071Cysfs*14)" "22"
"0000812371" "00001847" "70" "4672" "0" "4672" "0" "c.4672G>A" "r.(?)" "p.(Gly1558Arg)" "33"
"0000812376" "00001847" "70" "4253" "5" "4253" "5" "c.4253+5G>A" "r.(?)" "p.(?)" "28i"
"0000812403" "00001847" "70" "1928" "0" "1928" "0" "c.1928T>G" "r.(?)" "p.(Val643Gly)" "13"
"0000812404" "00001847" "70" "3050" "5" "3050" "5" "c.3050+5G>A" "r.2919_3050del" "p.(Leu973_His1017delinsPhe)" "20i"
"0000812405" "00001847" "70" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000812445" "00001847" "70" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000812459" "00001847" "70" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.(Met1?)" "1"
"0000812460" "00001847" "70" "6005" "1" "6005" "1" "c.6005+1G>A" "r.spl" "p.?" "43i"
"0000812461" "00001847" "70" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000812462" "00001847" "70" "4462" "0" "4462" "0" "c.4462T>C" "r.(?)" "p.(Cys1488Arg)" "30"
"0000812463" "00001847" "70" "913" "0" "913" "0" "c.913C>T" "r.(?)" "p.(Gln305*)" "8"
"0000812467" "00001847" "70" "6385" "0" "6385" "0" "c.6385A>G" "r.(?)" "p.(Ser2129Gly)" "46"
"0000812472" "00001847" "70" "3051" "-2" "3051" "-2" "c.3051-2A>G" "r.spl" "p.?" "20i"
"0000812479" "00001847" "70" "4128" "1" "4128" "1" "c.4128+1G>A" "r.spl" "p.?" "27i"
"0000813016" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000814618" "00001847" "70" "3988" "0" "3988" "0" "c.3988G>T" "r.(?)" "p.(Glu1330*)" "27"
"0000814619" "00001847" "70" "6410" "0" "6410" "0" "c.6410G>A" "r.(?)" "p.(Cys2137Tyr)" "47"
"0000814965" "00001847" "70" "740" "0" "740" "0" "c.740A>T" "r.(?)" "p.(Asn247Ile)" "6"
"0000814968" "00001847" "70" "4594" "0" "4594" "0" "c.4594G>A" "r.(?)" "p.(Asp1532Asn)" "31"
"0000815063" "00001847" "90" "6658" "0" "6658" "0" "c.6658C>T" "r.(?)" "p.(Gln2220*)" ""
"0000815064" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000815065" "00001847" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" ""
"0000815066" "00001847" "90" "768" "0" "768" "0" "c.768G>H" "r.(=)" "p.V256V" "6"
"0000815282" "00001847" "50" "455" "0" "455" "0" "c.455G>A" "r.(?)" "p.(Arg152Gln)" ""
"0000815284" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" ""
"0000815289" "00001847" "70" "184" "0" "184" "0" "c.184C>G" "r.(?)" "p.(Pro62Ala)" ""
"0000815290" "00001847" "70" "184" "0" "184" "0" "c.184C>G" "r.(?)" "p.(Pro62Ala)" ""
"0000815291" "00001847" "70" "4457" "0" "4457" "0" "c.4457C>T" "r.(?)" "p.(Pro1486Leu)" ""
"0000815292" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.(Gly863Ala)" ""
"0000815294" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" ""
"0000815311" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" ""
"0000815314" "00001847" "70" "5908" "0" "5908" "0" "c.5908C>T" "r.(?)" "p.(Leu1970Phe)" ""
"0000815319" "00001847" "70" "5642" "0" "5642" "0" "c.5642C>T" "r.(?)" "p.(Ala1881Val)" ""
"0000815320" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" ""
"0000815322" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000815330" "00001847" "70" "5908" "0" "5908" "0" "c.5908C>T" "r.(?)" "p.(Leu1970Phe)" ""
"0000815331" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" ""
"0000815336" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" ""
"0000815342" "00001847" "70" "2972" "0" "2972" "0" "c.2972G>T" "r.(?)" "p.(Gly991Val)" ""
"0000815348" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" ""
"0000815355" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000815359" "00001847" "90" "2568" "0" "2568" "0" "c.2568C>A" "r.(?)" "p.(Tyr856Ter)" ""
"0000815365" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000815368" "00001847" "50" "6148" "0" "6148" "0" "c.6148G>C" "r.(?)" "p.(Val2050Leu)" ""
"0000815374" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" ""
"0000815382" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" ""
"0000815383" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" ""
"0000815394" "00001847" "50" "6148" "0" "6148" "0" "c.6148G>C" "r.(?)" "p.(Val2050Leu)" ""
"0000815414" "00001847" "50" "6148" "0" "6148" "0" "c.6148G>C" "r.(?)" "p.(Val2050Leu)" ""
"0000815436" "00001847" "50" "466" "0" "466" "0" "c.466A>G" "r.(?)" "p.(Ile156Val)" ""
"0000815443" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000815447" "00001847" "90" "4253" "5" "4253" "5" "c.4253+5G>A" "r.spl?" "p.(?)" ""
"0000815455" "00001847" "90" "2041" "0" "2041" "0" "c.2041C>T" "r.(?)" "p.(Arg681Ter)" ""
"0000815459" "00001847" "90" "2041" "0" "2041" "0" "c.2041C>T" "r.(?)" "p.(Arg681Ter)" ""
"0000815460" "00001847" "70" "3311" "0" "3311" "0" "c.3311T>C" "r.(?)" "p.(Leu1104Pro)" ""
"0000815461" "00001847" "50" "455" "0" "455" "0" "c.455G>A" "r.(?)" "p.(Arg152Gln)" ""
"0000815466" "00001847" "90" "2383" "-1" "2587" "-1" "c.(2382+1_2383-1)_(2587+1_2587-1)del" "r.spl" "p.?" "15i_16i"
"0000815467" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" ""
"0000815477" "00001847" "70" "3347" "0" "3347" "0" "c.3347C>T" "r.(?)" "p.(Ser1116Phe)" ""
"0000815483" "00001847" "90" "5714" "1" "5714" "1" "c.5714+1G>A" "r.spl" "p.?" ""
"0000815493" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000815494" "00001847" "90" "4253" "4" "4253" "4" "c.4253+4C>T" "r.spl?" "p.(?)" ""
"0000815497" "00001847" "50" "1654" "0" "1654" "0" "c.1654G>A" "r.(?)" "p.(Val552Ile)" ""
"0000815500" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000815506" "00001847" "90" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973Ter)" ""
"0000815507" "00001847" "90" "4773" "1" "4773" "1" "c.4773+1G>T" "r.spl" "p.?" ""
"0000815512" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" ""
"0000815513" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000815521" "00001847" "70" "182" "0" "182" "0" "c.182T>C" "r.(?)" "p.(Met61Thr)" ""
"0000815528" "00001847" "90" "3988" "0" "3988" "0" "c.3988G>T" "r.(?)" "p.(Glu1330Ter)" ""
"0000815532" "00001847" "90" "3988" "0" "3988" "0" "c.3988G>T" "r.(?)" "p.(Glu1330Ter)" ""
"0000815561" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000815943" "00001847" "70" "3758" "0" "3758" "0" "c.3758C>T" "r.(?)" "p.(Thr1253Met)" ""
"0000816077" "00001847" "50" "4861" "0" "4861" "0" "c.4861A>T" "r.(?)" "p.(Asn1621Tyr)" ""
"0000816090" "00001847" "70" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071Cysfs*14)" ""
"0000816102" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" ""
"0000816105" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" ""
"0000816119" "00001847" "70" "2915" "0" "2915" "0" "c.2915C>A" "r.(?)" "p.(Thr972Asn)" ""
"0000816123" "00001847" "70" "247" "0" "250" "0" "c.247_250dup" "r.(?)" "p.(Ser84Thrfs*16)" ""
"0000816139" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" ""
"0000816147" "00001847" "70" "859" "-9" "859" "-9" "c.859-9T>C" "r.spl?" "p.(?)" ""
"0000816150" "00001847" "70" "5714" "1" "5714" "1" "c.5714+1G>T" "r.spl" "p.?" ""
"0000816159" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" ""
"0000816164" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" ""
"0000816174" "00001847" "50" "4594" "0" "4594" "0" "c.4594G>A" "r.(?)" "p.(Asp1532Asn)" ""
"0000816192" "00001847" "70" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" ""
"0000816203" "00001847" "70" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.spl" "p.?" ""
"0000816205" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.(Gly863Ala)" ""
"0000816222" "00001847" "70" "0" "0" "0" "0" "c.0?" "r.0?" "p.(?)" ""
"0000816241" "00001847" "50" "1715" "0" "1715" "0" "c.1715G>A" "r.(?)" "p.(Arg572Gln)" ""
"0000816248" "00001847" "70" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.spl" "p.?" ""
"0000816249" "00001847" "70" "2840" "0" "2840" "0" "c.2840A>G" "r.(?)" "p.(Asp947Gly)" ""
"0000816300" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000816408" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000816416" "00001847" "70" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" ""
"0000816424" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000816427" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000816436" "00001847" "70" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" ""
"0000816439" "00001847" "90" "4919" "0" "4919" "0" "c.4919G>A" "r.(?)" "p.(Arg1640Gln)" ""
"0000816451" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000816452" "00001847" "70" "3261" "0" "3261" "0" "c.3261A>C" "r.(?)" "p.(Glu1087Asp)" ""
"0000816456" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000816458" "00001847" "70" "5714" "1" "5714" "1" "c.5714+1G>T" "r.spl" "p.?" ""
"0000816463" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000816467" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000816468" "00001847" "50" "4297" "0" "4297" "0" "c.4297G>A" "r.(?)" "p.(Val1433Ile)" ""
"0000816469" "00001847" "70" "6326" "0" "6326" "0" "c.6326T>C" "r.(?)" "p.(Leu2109Pro)" ""
"0000816477" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000816493" "00001847" "70" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" ""
"0000816503" "00001847" "50" "5318" "0" "5318" "0" "c.5318C>A" "r.(?)" "p.(Ala1773Glu)" ""
"0000816504" "00001847" "50" "4978" "0" "4978" "0" "c.4978C>T" "r.(?)" "p.(Pro1660Ser)" ""
"0000816515" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000816526" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.(Gly863Ala)" ""
"0000816533" "00001847" "50" "1715" "0" "1715" "0" "c.1715G>C" "r.(?)" "p.(Arg572Pro)" ""
"0000816534" "00001847" "70" "4313" "0" "4313" "0" "c.4313C>G" "r.(?)" "p.(Pro1438Arg)" ""
"0000816535" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000816542" "00001847" "50" "5222" "0" "5232" "0" "c.5222_5232del" "r.(?)" "p.(Leu1741Hisfs*42)" ""
"0000816554" "00001847" "70" "157" "0" "157" "0" "c.157G>T" "r.(?)" "p.(Glu53*)" "2"
"0000816560" "00001847" "70" "5881" "0" "5881" "0" "c.5881G>A" "r.(?)" "p.(Gly1961Arg)" "42"
"0000817484" "00001847" "50" "2619" "0" "2619" "0" "c.2619T>V" "r.(?)" "p.(Phe873Leu)" "17"
"0000817488" "00001847" "50" "5908" "0" "5908" "0" "c.5908C>T" "r.(?)" "p.(Leu1970Phe)" "43"
"0000817491" "00001847" "50" "1654" "0" "1654" "0" "c.1654G>A" "r.(?)" "p.(Val552Ile)" "12"
"0000817496" "00001847" "50" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(=)" "p.(=)" "38i"
"0000817497" "00001847" "50" "0" "0" "0" "0" "c.?" "r.(?)" "p.(W439*)" ""
"0000818226" "00001847" "90" "1268" "0" "1268" "0" "c.1268A>G" "r.(?)" "p.(His423Arg)" "10"
"0000818233" "00001847" "90" "1268" "0" "1268" "0" "c.1268A>G" "r.(?)" "p.(His423Arg)" "10"
"0000818586" "00001847" "90" "735" "0" "735" "0" "c.735T>G" "r.(?)" "p.(Tyr245*)" "6"
"0000818587" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000818590" "00001847" "90" "735" "0" "735" "0" "c.735T>G" "r.(?)" "p.(Tyr245*)" "6"
"0000818592" "00001847" "90" "4774" "-9" "4774" "-9" "c.4774-9G>A" "r.spl" "p.?" "3i"
"0000818593" "00001847" "90" "4849" "-8" "4849" "-8" "c.4849-8C>G" "r.spl" "p.?" "4i"
"0000818595" "00001847" "90" "4774" "-9" "4774" "-9" "c.4774-9G>A" "r.spl" "p.?" "3i"
"0000818636" "00001847" "90" "2424" "0" "2424" "0" "c.2424C>G" "r.(?)" "p.(Tyr808*)" ""
"0000819042" "00001847" "70" "868" "0" "868" "0" "c.868C>T" "r.(?)" "p.(Arg290Trp)" ""
"0000819059" "00001847" "90" "6449" "0" "6449" "0" "c.6449G>A" "r.(?)" "p.(Cys2150Tyr)" ""
"0000819061" "00001847" "90" "5044" "0" "5058" "0" "c.5044_5058del" "r.(?)" "p.(Val1682_Val1686del)" ""
"0000819073" "00001847" "90" "5819" "0" "5819" "0" "c.5819T>C" "r.(?)" "p.(Leu1940Pro)" ""
"0000819075" "00001847" "70" "3056" "0" "3056" "0" "c.3056C>T" "r.(?)" "p.(Thr1019Met)" ""
"0000819081" "00001847" "90" "982" "0" "982" "0" "c.982G>T" "r.(?)" "p.(Glu328*)" ""
"0000819082" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000819083" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" ""
"0000819086" "00001847" "90" "3943" "0" "3943" "0" "c.3943C>T" "r.(?)" "p.(Gln1315*)" ""
"0000819091" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" ""
"0000819093" "00001847" "70" "6718" "0" "6718" "0" "c.6718A>G" "r.(?)" "p.(Thr2240Ala)" ""
"0000819096" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000819097" "00001847" "70" "6006" "-2" "6006" "-2" "c.6006-2A>G" "r.spl?" "p.?" ""
"0000821077" "00001847" "70" "3299" "0" "3299" "0" "c.3299T>A" "r.(?)" "p.(Ile1100Asn)" ""
"0000821078" "00001847" "70" "2813" "0" "2813" "0" "c.2813T>C" "r.(?)" "p.(Phe938Ser)" ""
"0000821079" "00001847" "70" "3259" "0" "3259" "0" "c.3259G>T" "r.(?)" "p.(Glu1087*)" ""
"0000821080" "00001847" "70" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Valfs*13,Thr1821Aspfs*6]" ""
"0000821081" "00001847" "90" "885" "0" "885" "0" "c.885del" "r.(?)" "p.(Leu296Cysfs*4)" ""
"0000821082" "00001847" "70" "5381" "0" "5381" "0" "c.5381C>A" "r.(?)" "p.(Ala1794Asp)" ""
"0000821083" "00001847" "70" "4253" "5" "4253" "5" "c.4253+5G>A" "r.4129_4253del" "p.(Ile1377Hisfs*3)" ""
"0000821084" "00001847" "70" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Valfs*13,Thr1821Aspfs*6]" ""
"0000821085" "00001847" "70" "2560" "0" "2560" "0" "c.2560G>A" "r.(?)" "p.(Ala854Thr)" ""
"0000821086" "00001847" "90" "3081" "0" "3081" "0" "c.3081T>G" "r.(?)" "p.(Tyr1027*)" ""
"0000821087" "00001847" "70" "5932" "0" "5932" "0" "c.5932A>G" "r.(?)" "p.(Lys1978Glu)" ""
"0000821088" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" ""
"0000821089" "00001847" "70" "719" "0" "719" "0" "c.719T>G" "r.(?)" "p.(Ile240Arg)" ""
"0000821090" "00001847" "70" "2560" "0" "2560" "0" "c.2560G>A" "r.(?)" "p.(Ala854Thr)" ""
"0000821091" "00001847" "70" "4771" "0" "4771" "0" "c.4771G>A" "r.(?)" "p.(Gly1591Arg)" ""
"0000821092" "00001847" "70" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Valfs*13,Thr1821Aspfs*6]" ""
"0000821093" "00001847" "70" "4685" "0" "4685" "0" "c.4685T>C" "r.(?)" "p.(Ile1562Thr)" ""
"0000821094" "00001847" "90" "4537" "0" "4537" "0" "c.4537dup" "r.(?)" "p.(Gln1513Profs*42)" ""
"0000821095" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" ""
"0000821096" "00001847" "90" "1938" "-1" "1938" "-1" "c.1938-1G>A" "r.spl" "p.?" ""
"0000821097" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000821098" "00001847" "70" "223" "0" "223" "0" "c.223T>G" "r.(?)" "p.(Cys75Gly)" ""
"0000821099" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" ""
"0000821100" "00001847" "90" "1984" "0" "1984" "0" "c.1984dup" "r.(?)" "p.(Ala662Glyfs*104)" ""
"0000821101" "00001847" "70" "1018" "0" "1018" "0" "c.1018T>C" "r.(?)" "p.(Tyr340His)" ""
"0000821102" "00001847" "70" "4727" "0" "4727" "0" "c.4727T>G" "r.(?)" "p.(Leu1576Arg)" ""
"0000821103" "00001847" "90" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071Cysfs*14)" ""
"0000821104" "00001847" "90" "3303" "0" "3303" "0" "c.3303G>A" "r.(?)" "p.(Trp1101*)" ""
"0000821105" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.(Gly863Ala)" ""
"0000821106" "00001847" "90" "6658" "0" "6658" "0" "c.6658C>T" "r.(?)" "p.(Gln2220*)" ""
"0000821107" "00001847" "70" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" ""
"0000821108" "00001847" "70" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Valfs*13,Thr1821Aspfs*6]" ""
"0000821109" "00001847" "70" "4253" "5" "4253" "5" "c.4253+5G>A" "r.4129_4253del" "p.(Ile1377Hisfs*3)" ""
"0000821110" "00001847" "70" "4319" "0" "4319" "0" "c.4319T>C" "r.(?)" "p.(Phe1440Ser)" ""
"0000821111" "00001847" "70" "4129" "-1" "4129" "-1" "c.4129-1G>A" "r.spl" "p.?" ""
"0000821112" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.(Gly863Ala)" ""
"0000821113" "00001847" "70" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Valfs*13,Thr1821Aspfs*6]" ""
"0000821114" "00001847" "70" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" ""
"0000821115" "00001847" "90" "4537" "0" "4537" "0" "c.4537del" "r.(?)" "p.(Gln1513Argfs*13)" ""
"0000821116" "00001847" "70" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Valfs*13,Thr1821Aspfs*6]" ""
"0000821117" "00001847" "70" "3064" "0" "3064" "0" "c.3064G>A" "r.(?)" "p.(Glu1022Lys)" ""
"0000821118" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" ""
"0000821119" "00001847" "70" "6729" "5" "6729" "19" "c.6729+5_6729+19del" "r.6480_6729del" "p.(Phe2161Cysfs*3)" ""
"0000821120" "00001847" "90" "6445" "0" "6445" "0" "c.6445C>T" "r.(?)" "p.(Arg2149*)" ""
"0000821121" "00001847" "70" "2971" "0" "2971" "0" "c.2971G>C" "r.(?)" "p.(Gly991Arg)" ""
"0000821122" "00001847" "70" "1335" "0" "1335" "0" "c.1335C>G" "r.(?)" "p.(Ser445Arg)" ""
"0000821123" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" ""
"0000821124" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" ""
"0000821125" "00001847" "70" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Valfs*13,Thr1821Aspfs*6]" ""
"0000821126" "00001847" "70" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Valfs*13,Thr1821Aspfs*6]" ""
"0000821127" "00001847" "90" "5018" "2" "5018" "2" "c.5018+2T>C" "r.spl" "p.?" ""
"0000821128" "00001847" "70" "4363" "0" "4363" "0" "c.4363T>C" "r.(?)" "p.(Cys1455Arg)" ""
"0000821129" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000821130" "00001847" "70" "2023" "0" "2023" "0" "c.2023G>A" "r.(?)" "p.(Val675Ile)" ""
"0000821131" "00001847" "70" "4538" "0" "4538" "0" "c.4538A>G" "r.(?)" "p.(Gln1513Arg)" ""
"0000821132" "00001847" "90" "1557" "0" "1557" "0" "c.1557C>A" "r.(?)" "p.(Cys519*)" ""
"0000821133" "00001847" "70" "1819" "0" "1819" "0" "c.1819G>A" "r.(?)" "p.(Gly607Arg)" ""
"0000821134" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000821135" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000821136" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000821137" "00001847" "70" "303" "-2" "303" "-2" "c.303-2A>G" "r.spl" "p.?" ""
"0000821138" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" ""
"0000821139" "00001847" "70" "1609" "0" "1609" "0" "c.1609C>T" "r.(?)" "p.(Arg537Cys)" ""
"0000821140" "00001847" "90" "6088" "0" "6088" "0" "c.6088C>T" "r.(?)" "p.(Arg2030*)" ""
"0000821141" "00001847" "70" "1532" "0" "1532" "0" "c.1532G>A" "r.(?)" "p.(Arg511His)" ""
"0000821142" "00001847" "70" "1497" "0" "1497" "0" "c.1497G>A" "r.(?)" "p.(Trp499*)" ""
"0000821143" "00001847" "90" "6658" "0" "6658" "0" "c.6658C>T" "r.(?)" "p.(Gln2220*)" ""
"0000821144" "00001847" "90" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973*)" ""
"0000821145" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.(Gly863Ala)" ""
"0000821473" "00001847" "70" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Valfs*13,Thr1821Aspfs*6]" ""
"0000821474" "00001847" "70" "712" "0" "712" "0" "c.712C>T" "r.(?)" "p.(Gln238*)" ""
"0000821475" "00001847" "70" "6226" "0" "6226" "0" "c.6226A>G" "r.(?)" "p.(Lys2076Glu)" ""
"0000821476" "00001847" "70" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Valfs*13,Thr1821Aspfs*6]" ""
"0000821477" "00001847" "70" "6098" "0" "6098" "0" "c.6098T>G" "r.(?)" "p.(Leu2033Arg)" ""
"0000821478" "00001847" "90" "6088" "0" "6088" "0" "c.6088C>T" "r.(?)" "p.(Arg2030*)" ""
"0000821479" "00001847" "70" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" ""
"0000821480" "00001847" "70" "3364" "0" "3364" "0" "c.3364G>A" "r.(?)" "p.(Glu1122Lys)" ""
"0000821481" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" ""
"0000821482" "00001847" "70" "6148" "0" "6148" "0" "c.6148G>C" "r.(?)" "p.(Val2050Leu)" ""
"0000821483" "00001847" "70" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Valfs*13,Thr1821Aspfs*6]" ""
"0000821484" "00001847" "70" "5018" "5" "5018" "5" "c.5018+5G>A" "r.4849_5018del" "p.(Val1617Alafs*113)" ""
"0000821485" "00001847" "70" "4363" "0" "4363" "0" "c.4363T>C" "r.(?)" "p.(Cys1455Arg)" ""
"0000821486" "00001847" "70" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Valfs*13,Thr1821Aspfs*6]" ""
"0000821487" "00001847" "70" "5088" "0" "5088" "0" "c.5088C>G" "r.(?)" "p.(Ser1696Arg)" ""
"0000821488" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000821489" "00001847" "70" "5315" "0" "5315" "0" "c.5315G>A" "r.(?)" "p.(Trp1772*)" ""
"0000821490" "00001847" "70" "768" "0" "768" "0" "c.768G>T" "r.768_769ins769+1_769+30" "p.(Leu257Valfs*17)" ""
"0000821491" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" ""
"0000821492" "00001847" "70" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Valfs*13,Thr1821Aspfs*6]" ""
"0000821493" "00001847" "70" "5463" "0" "5463" "0" "c.5463G>A" "r.spl?" "p.(Thr1821=)" ""
"0000821494" "00001847" "70" "6449" "0" "6449" "0" "c.6449G>A" "r.(?)" "p.(Cys2150Tyr)" ""
"0000821495" "00001847" "70" "4519" "0" "4519" "0" "c.4519G>A" "r.(?)" "p.(Gly1507Arg)" ""
"0000821496" "00001847" "70" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.[=,5196_5197ins5196+1140_5196+1212]" "p.[=,Met1733Glufs*78]" ""
"0000821497" "00001847" "70" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Valfs*13,Thr1821Aspfs*6]" ""
"0000821498" "00001847" "70" "6098" "0" "6098" "0" "c.6098T>C" "r.(?)" "p.(Leu2033Pro)" ""
"0000821499" "00001847" "70" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.[=,5196_5197ins5196+1140_5196+1212]" "p.[=,Met1733Glufs*78]" ""
"0000821500" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000821501" "00001847" "70" "0" "0" "0" "0" "c.(3522+1_3523-1)_*400{0}" "r.?" "p.?" "23i_50_"
"0000821502" "00001847" "70" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.[=,5196_5197ins5196+1140_5196+1212]" "p.[=,Met1733Glufs*78]" ""
"0000821503" "00001847" "70" "4537" "0" "4537" "0" "c.4537dup" "r.(?)" "p.(Gln1513Profs*42)" ""
"0000821504" "00001847" "90" "5161" "0" "5162" "0" "c.5161_5162del" "r.(?)" "p.(Thr1721Hisfs*65)" ""
"0000821505" "00001847" "70" "6342" "0" "6342" "0" "c.6342G>A" "r.spl?" "p.(Val2114=)" ""
"0000821506" "00001847" "70" "5516" "0" "5516" "0" "c.5516T>C" "r.(?)" "p.(Phe1839Ser)" ""
"0000821507" "00001847" "90" "6329" "0" "6329" "0" "c.6329G>A" "r.(?)" "p.(Trp2110*)" ""
"0000821508" "00001847" "70" "2915" "0" "2915" "0" "c.2915C>A" "r.(?)" "p.(Thr972Asn)" ""
"0000821509" "00001847" "70" "2966" "0" "2966" "0" "c.2966T>C" "r.(?)" "p.(Val989Ala)" ""
"0000821510" "00001847" "70" "6449" "0" "6449" "0" "c.6449G>A" "r.(?)" "p.(Cys2150Tyr)" ""
"0000821511" "00001847" "70" "6729" "5" "6729" "19" "c.6729+5_6729+19del" "r.6480_6729del" "p.(Phe2161Cysfs*3)" ""
"0000821512" "00001847" "70" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" ""
"0000821513" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000821514" "00001847" "70" "4919" "0" "4919" "0" "c.4919G>A" "r.(?)" "p.(Arg1640Gln)" ""
"0000821515" "00001847" "70" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" ""
"0000821516" "00001847" "70" "926" "0" "926" "0" "c.926C>G" "r.(?)" "p.(Pro309Arg)" ""
"0000821517" "00001847" "70" "6229" "0" "6229" "0" "c.6229C>T" "r.(?)" "p.(Arg2077Trp)" ""
"0000821518" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.(Gly863Ala)" ""
"0000821519" "00001847" "70" "658" "0" "658" "0" "c.658C>T" "r.(?)" "p.(Arg220Cys)" ""
"0000822111" "00001847" "70" "1268" "0" "1268" "0" "c.1268A>G" "r.(?)" "p.(His423Arg)" "10"
"0000822112" "00001847" "70" "1269" "0" "1269" "0" "c.1269C>T" "r.(=)" "p.(=)" "10"
"0000822113" "00001847" "70" "5682" "0" "5682" "0" "c.5682G>C" "r.(=)" "p.(=)" "40"
"0000822114" "00001847" "70" "5814" "0" "5814" "0" "c.5814A>G" "r.(=)" "p.(=)" "41"
"0000822115" "00001847" "70" "6285" "0" "6285" "0" "c.6285T>C" "r.(=)" "p.(=)" "46"
"0000822188" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000822189" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000822190" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000822193" "00001847" "70" "5381" "0" "5381" "0" "c.5381C>A" "r.(?)" "p.(Ala1794Asp)" "38"
"0000822194" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000822195" "00001847" "70" "5413" "0" "5413" "0" "c.5413A>G" "r.(?)" "p.(Asn1805Asp)" "38"
"0000822196" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000822198" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000822199" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.(Gly863Ala)" "17"
"0000822200" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000822201" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl?" "p.?" "40i"
"0000822202" "00001847" "70" "6658" "0" "6658" "0" "c.6658C>T" "r.(?)" "p.(Gln2220*)" "48"
"0000822203" "00001847" "70" "6658" "0" "6658" "0" "c.6658C>T" "r.(?)" "p.(Gln2220*)" "48"
"0000822204" "00001847" "70" "571" "-2" "571" "-2" "c.571-2A>T" "r.spl?" "p.?" "5i"
"0000822205" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000822206" "00001847" "70" "2291" "0" "2291" "0" "c.2291G>A" "r.(?)" "p.(Cys764Tyr)" "15"
"0000822207" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl?" "p.?" "40i"
"0000822208" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000822209" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000822210" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000822216" "00001847" "70" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.?" "38i"
"0000822217" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000822218" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000822221" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000822222" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.(Gly863Ala)" "17"
"0000822223" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl?" "p.?" "40i"
"0000822228" "00001847" "70" "5942" "0" "5942" "0" "c.5942C>G" "r.(?)" "p.(Thr1981Arg)" "43"
"0000822229" "00001847" "70" "6323" "0" "6331" "0" "c.6323_6331delinsGGC" "r.(?)" "p.(Met2108_Asn2111delinsArgHis)" "46"
"0000822230" "00001847" "70" "3323" "0" "3323" "0" "c.3323del" "r.(?)" "p.(Arg1108Profs*40)" "22"
"0000822231" "00001847" "70" "5377" "0" "5377" "0" "c.5377G>A" "r.(?)" "p.(Val1793Met)" "38"
"0000822232" "00001847" "70" "768" "0" "768" "0" "c.768G>T" "r.(=)" "p.(=)" "6"
"0000822233" "00001847" "70" "4739" "0" "4739" "0" "c.4739T>C" "r.(?)" "p.(Leu1580Ser)" "33"
"0000822236" "00001847" "70" "1610" "0" "1610" "0" "c.1610G>A" "r.(?)" "p.(Arg537His)" "12"
"0000822237" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000822238" "00001847" "70" "3523" "-1" "3523" "-1" "c.3523-1G>A" "r.spl?" "p.?" "23i"
"0000822239" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000822240" "00001847" "70" "6088" "0" "6088" "0" "c.6088C>T" "r.(?)" "p.(Arg2030*)" "44"
"0000822243" "00001847" "70" "2291" "0" "2291" "0" "c.2291G>A" "r.(?)" "p.(Cys764Tyr)" "15"
"0000822244" "00001847" "70" "5381" "0" "5381" "0" "c.5381C>A" "r.(?)" "p.(Ala1794Asp)" "38"
"0000822248" "00001847" "70" "61" "0" "61" "0" "c.61C>T" "r.(?)" "p.(Gln21*)" "1"
"0000822249" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000822259" "00001847" "70" "52" "0" "52" "0" "c.52C>T" "r.(?)" "p.(Arg18Trp)" "1"
"0000822260" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000822261" "00001847" "70" "52" "0" "52" "0" "c.52C>T" "r.(?)" "p.(Arg18Trp)" "1"
"0000822262" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000822265" "00001847" "70" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000822266" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000822269" "00001847" "70" "514" "0" "514" "0" "c.514G>A" "r.(?)" "p.(Gly172Ser)" "5"
"0000822270" "00001847" "70" "676" "0" "676" "0" "c.676C>A" "r.(?)" "p.(Arg226Ser)" "6"
"0000822271" "00001847" "70" "1957" "0" "1957" "0" "c.1957C>T" "r.(?)" "p.(Arg653Cys)" "14"
"0000822272" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000822273" "00001847" "70" "4873" "0" "4873" "0" "c.4873C>T" "r.(?)" "p.(His1625Tyr)" "35"
"0000822274" "00001847" "70" "4873" "0" "4873" "0" "c.4873C>T" "r.(?)" "p.(His1625Tyr)" "35"
"0000822275" "00001847" "70" "1610" "0" "1610" "0" "c.1610G>A" "r.(?)" "p.(Arg537His)" "12"
"0000822276" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000822277" "00001847" "70" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.?" "38i"
"0000822278" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000822279" "00001847" "70" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.?" "38i"
"0000822280" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000822281" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000822282" "00001847" "70" "4873" "0" "4873" "0" "c.4873C>T" "r.(?)" "p.(His1625Tyr)" "35"
"0000822283" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl?" "p.?" "40i"
"0000822284" "00001847" "70" "4462" "0" "4462" "0" "c.4462T>C" "r.(?)" "p.(Cys1488Arg)" "30"
"0000822285" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000822286" "00001847" "70" "2932" "0" "2932" "0" "c.2932G>A" "r.(?)" "p.(Gly978Ser)" "20"
"0000822287" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000822288" "00001847" "70" "1988" "0" "1988" "0" "c.1988G>A" "r.(?)" "p.(Trp663*)" "14"
"0000822289" "00001847" "70" "2160" "1" "2160" "1" "c.2160+1G>T" "r.spl?" "p.?" "14i"
"0000822290" "00001847" "70" "1957" "0" "1957" "0" "c.1957C>T" "r.(?)" "p.(Arg653Cys)" "14"
"0000822291" "00001847" "70" "5691" "0" "5691" "0" "c.5691G>T" "r.(?)" "p.(Gln1897His)" "40"
"0000822299" "00001847" "70" "4352" "1" "4352" "1" "c.4352+1G>A" "r.spl?" "p.?" "29i"
"0000822300" "00001847" "70" "4919" "0" "4919" "0" "c.4919G>A" "r.(?)" "p.(Arg1640Gln)" "35"
"0000822302" "00001847" "70" "2401" "0" "2401" "0" "c.2401G>A" "r.(?)" "p.(Ala801Thr)" "16"
"0000822303" "00001847" "70" "5381" "0" "5381" "0" "c.5381C>A" "r.(?)" "p.(Ala1794Asp)" "38"
"0000822304" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000822305" "00001847" "70" "6122" "0" "6122" "0" "c.6122G>A" "r.(?)" "p.(Gly2041Asp)" "44"
"0000822306" "00001847" "70" "2041" "0" "2041" "0" "c.2041C>T" "r.(?)" "p.(Arg681*)" "14"
"0000822307" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000822308" "00001847" "70" "5329" "0" "5329" "0" "c.5329A>T" "r.(?)" "p.(Met1777Leu)" "38"
"0000822309" "00001847" "70" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.?" "38i"
"0000822310" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000822311" "00001847" "70" "4958" "0" "4958" "0" "c.4958G>A" "r.(?)" "p.(Gly1653Glu)" "35"
"0000822312" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000822316" "00001847" "70" "3179" "0" "3179" "0" "c.3179A>C" "r.(?)" "p.(Gln1060Pro)" "21"
"0000822317" "00001847" "70" "3179" "0" "3179" "0" "c.3179A>C" "r.(?)" "p.(Gln1060Pro)" "21"
"0000822318" "00001847" "70" "160" "0" "160" "0" "c.160T>G" "r.(?)" "p.(Cys54Gly)" "2"
"0000822319" "00001847" "70" "160" "0" "160" "0" "c.160T>G" "r.(?)" "p.(Cys54Gly)" "2"
"0000822322" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000822323" "00001847" "70" "6282" "1" "6282" "1" "c.6282+1G>C" "r.spl?" "p.?" "45i"
"0000822324" "00001847" "70" "247" "0" "250" "0" "c.247_250dup" "r.(?)" "p.(Ser84Thrfs*16)" "3"
"0000822325" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000822326" "00001847" "70" "1742" "0" "1742" "0" "c.1742C>A" "r.(?)" "p.(Thr581Asn)" "12"
"0000822327" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000822329" "00001847" "70" "4609" "0" "4609" "0" "c.4609del" "r.(?)" "p.(Thr1537Argfs*6)" "31"
"0000822330" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000822332" "00001847" "70" "4383" "0" "4383" "0" "c.4383G>C" "r.(?)" "p.(Trp1461Cys)" "30"
"0000822333" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000822334" "00001847" "70" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000822335" "00001847" "70" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000822336" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000822338" "00001847" "70" "727" "0" "728" "0" "c.727_728dup" "r.(?)" "p.(Tyr245Cysfs*18)" "6"
"0000822339" "00001847" "70" "735" "0" "735" "0" "c.735T>G" "r.(?)" "p.(Tyr245*)" "6"
"0000822340" "00001847" "70" "5413" "0" "5413" "0" "c.5413A>G" "r.(?)" "p.(Asn1805Asp)" "38"
"0000822341" "00001847" "70" "6428" "0" "6428" "0" "c.6428T>A" "r.(?)" "p.(Met2143Lys)" "47"
"0000822344" "00001847" "70" "5461" "-6" "5461" "-6" "c.5461-6T>C" "r.(=)" "p.(=)" "38i"
"0000822345" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000822350" "00001847" "70" "5018" "2" "5018" "2" "c.5018+2T>C" "r.spl?" "p.?" "35i"
"0000822351" "00001847" "70" "5018" "2" "5018" "2" "c.5018+2T>C" "r.spl?" "p.?" "35i"
"0000822352" "00001847" "70" "454" "0" "454" "0" "c.454C>T" "r.(?)" "p.(Arg152*)" "5"
"0000822353" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000822354" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.(Gly863Ala)" "17"
"0000822357" "00001847" "70" "2041" "0" "2041" "0" "c.2041C>T" "r.(?)" "p.(Arg681*)" "14"
"0000822358" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000822363" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl?" "p.?" "40i"
"0000822364" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000822365" "00001847" "70" "1846" "0" "1846" "0" "c.1846G>A" "r.(?)" "p.(Glu616Lys)" "13"
"0000822366" "00001847" "70" "4328" "0" "4328" "0" "c.4328G>A" "r.(?)" "p.(Arg1443His)" "29"
"0000822367" "00001847" "70" "1" "0" "1" "0" "c.1A>G" "r.?" "p.?" "1"
"0000822368" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000822369" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000822374" "00001847" "70" "184" "0" "184" "0" "c.184C>T" "r.(?)" "p.(Pro62Ser)" "3"
"0000822375" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000822383" "00001847" "70" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.?" "38i"
"0000822384" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000822385" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl?" "p.?" "40i"
"0000822388" "00001847" "70" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071Cysfs*14)" "22"
"0000822389" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000822391" "00001847" "70" "160" "0" "160" "0" "c.160T>G" "r.(?)" "p.(Cys54Gly)" "2"
"0000822392" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000822394" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000822395" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl?" "p.?" "40i"
"0000822399" "00001847" "70" "6731" "0" "6731" "0" "c.6731T>A" "r.(?)" "p.(Val2244Glu)" "49"
"0000822400" "00001847" "70" "6731" "0" "6731" "0" "c.6731T>A" "r.(?)" "p.(Val2244Glu)" "49"
"0000822401" "00001847" "70" "2401" "0" "2401" "0" "c.2401G>A" "r.(?)" "p.(Ala801Thr)" "16"
"0000822402" "00001847" "70" "5018" "2" "5018" "2" "c.5018+2T>C" "r.spl?" "p.?" "35i"
"0000822405" "00001847" "70" "428" "0" "428" "0" "c.428del" "r.(?)" "p.(Pro143Argfs*11)" "4"
"0000822406" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000822407" "00001847" "70" "2918" "775" "3328" "618" "c.2918+775_3328+618del" "r.?" "p.?" "19i_22i"
"0000822408" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000822413" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000822414" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000822415" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000822416" "00001847" "70" "5196" "2" "5196" "2" "c.5196+2T>C" "r.spl?" "p.?" "36i"
"0000822417" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000822418" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000822419" "00001847" "70" "6238" "0" "6239" "0" "c.6238_6239del" "r.(?)" "p.(Ser2080Hisfs*16)" "45"
"0000822423" "00001847" "70" "2005" "0" "2006" "0" "c.2005_2006del" "r.(?)" "p.(Met669Aspfs*96)" "14"
"0000822424" "00001847" "70" "6148" "0" "6148" "0" "c.6148G>C" "r.(?)" "p.(Val2050Leu)" "45"
"0000822425" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000822426" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.(Gly863Ala)" "17"
"0000822427" "00001847" "70" "5762" "0" "5763" "0" "c.5762_5763del" "r.(?)" "p.(Val1921Glyfs*2)" "41"
"0000822431" "00001847" "70" "2918" "775" "3328" "618" "c.(2918+765_2918+775)_(3328+618_3328+662)del" "r.(?)" "p.(?)" "19i_22i"
"0000822432" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000822433" "00001847" "70" "4958" "0" "4958" "0" "c.4958G>A" "r.(?)" "p.(Gly1653Glu)" "35"
"0000822434" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000822435" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl?" "p.?" "40i"
"0000822436" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl?" "p.?" "40i"
"0000822438" "00001847" "70" "2401" "0" "2401" "0" "c.2401G>A" "r.(?)" "p.(Ala801Thr)" "16"
"0000822439" "00001847" "70" "5018" "2" "5018" "2" "c.5018+2T>C" "r.spl?" "p.?" "35i"
"0000822445" "00001847" "70" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.?" "38i"
"0000822446" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000822447" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000822453" "00001847" "70" "214" "0" "214" "0" "c.214G>A" "r.(?)" "p.(Gly72Arg)" "3"
"0000822454" "00001847" "70" "1819" "0" "1819" "0" "c.1819G>A" "r.(?)" "p.(Gly607Arg)" "13"
"0000822458" "00001847" "70" "5311" "0" "5311" "0" "c.5311G>A" "r.(?)" "p.(Gly1771Arg)" "37"
"0000822459" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000822463" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000822464" "00001847" "70" "5172" "0" "5172" "0" "c.5172G>A" "r.(?)" "p.(Trp1724*)" "36"
"0000822465" "00001847" "70" "5690" "0" "5704" "0" "c.5690_5704del" "r.(?)" "p.(Gln1897_Phe1901del)" "40"
"0000822466" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000822467" "00001847" "70" "1903" "0" "1903" "0" "c.1903C>T" "r.(?)" "p.(Gln635*)" "13"
"0000822468" "00001847" "70" "2401" "0" "2401" "0" "c.2401G>A" "r.(?)" "p.(Ala801Thr)" "16"
"0000822474" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000822475" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.(Gly863Ala)" "17"
"0000822476" "00001847" "70" "4978" "0" "4978" "0" "c.4978C>T" "r.(?)" "p.(Pro1660Ser)" "35"
"0000822477" "00001847" "70" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.?" "38i"
"0000822478" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000822479" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000822480" "00001847" "70" "5311" "0" "5311" "0" "c.5311G>A" "r.(?)" "p.(Gly1771Arg)" "37"
"0000822481" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000822482" "00001847" "70" "4539" "2064" "4539" "2064" "c.4539+2064C>T" "r.(=)" "p.(=)" "30i"
"0000822483" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000822484" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000822485" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.(Gly863Ala)" "17"
"0000822486" "00001847" "70" "5018" "2" "5018" "2" "c.5018+2T>C" "r.spl?" "p.?" "35i"
"0000822487" "00001847" "70" "5316" "0" "5316" "0" "c.5316G>A" "r.(?)" "p.(Trp1772*)" "38"
"0000822488" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000822493" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000822494" "00001847" "70" "5924" "0" "5924" "0" "c.5924G>T" "r.(?)" "p.(Gly1975Val)" "43"
"0000822496" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000822497" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000822498" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000822499" "00001847" "70" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000822500" "00001847" "70" "5196" "1056" "5196" "1056" "c.5196+1056A>G" "r.(=)" "p.(=)" "36i"
"0000822501" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000822502" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000822503" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000822504" "00001847" "70" "2947" "0" "2947" "0" "c.2947A>G" "r.(?)" "p.(Thr983Ala)" "20"
"0000822505" "00001847" "70" "4253" "43" "4253" "43" "c.4253+43G>A" "r.(=)" "p.(=)" "28i"
"0000822506" "00001847" "70" "1621" "0" "1622" "0" "c.1621_1622del" "r.(?)" "p.(Leu541Thrfs*14)" "12"
"0000822507" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000822508" "00001847" "70" "768" "0" "768" "0" "c.768G>T" "r.(=)" "p.(=)" "6"
"0000822509" "00001847" "70" "4539" "2064" "4539" "2064" "c.4539+2064C>T" "r.(=)" "p.(=)" "30i"
"0000822725" "00001847" "70" "4771" "0" "4771" "0" "c.4771G>A" "r.(?)" "p.(Gly1591Arg)" "33"
"0000823297" "00001847" "90" "2919" "-884" "2919" "-884" "c.2919-884G>T" "r.([2918_2919ins2919-957_2919-886,=])" "p.[(Phe973Leufs*3,=)]" ""
"0000823298" "00001847" "90" "67" "-140" "161" "-355" "c.67-140_161-355del" "r.(67_160del)" "p.(Ile23Alafs*24)" "1i_2i"
"0000824113" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" ""
"0000824114" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" ""
"0000824125" "00001847" "90" "5819" "0" "5819" "0" "c.5819T>C" "r.(?)" "p.(Leu1940Pro)" ""
"0000824128" "00001847" "90" "5819" "0" "5819" "0" "c.5819T>C" "r.(?)" "p.(Leu1940Pro)" ""
"0000824151" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" ""
"0000824152" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" ""
"0000824163" "00001847" "90" "5819" "0" "5819" "0" "c.5819T>C" "r.(?)" "p.(Leu1940Pro)" ""
"0000824166" "00001847" "90" "5819" "0" "5819" "0" "c.5819T>C" "r.(?)" "p.(Leu1940Pro)" ""
"0000824530" "00001847" "90" "2637" "0" "2638" "0" "c.2637_2638del" "r.2637_2638del" "p.Tyr879*" ""
"0000824531" "00001847" "90" "1555" "-816" "1555" "-816" "c.1555-816T>G" "r.(1554_1555ins[1555-898_1555-815;g])" "p.(Cys519Serfs*77)" ""
"0000824532" "00001847" "90" "101" "0" "106" "0" "c.101_106del" "r.(101_106del)" "p.(Ser34_Leu35del)" ""
"0000824533" "00001847" "90" "2919" "-169" "2919" "-169" "c.2919-169T>G" "r.([=,2918_2919ins[2919-323_2919-168;g]])" "p.[(=,Ser974Leufs*5)]" ""
"0000824534" "00001847" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.1222c>u" "p.Arg408*" ""
"0000824535" "00001847" "90" "3420" "0" "3420" "0" "c.3420C>G" "r.(3420c>g)" "p.(Cys1140Trp)" ""
"0000824536" "00001847" "90" "2919" "-884" "2919" "-884" "c.2919-884G>T" "r.([2918_2919ins2919-957_2919-886,=])" "p.[(Phe973Leufs*3,=)]" ""
"0000824537" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(5603a>u)" "p.(Asn1868Ile)" ""
"0000824538" "00001847" "90" "4539" "1100" "4539" "1100" "c.4539+1100A>G" "r.([4539_4540ins[4539+1033_4539+1099;g],=])" "p.[(Arg1514Glyfs*3,=)]" ""
"0000824539" "00001847" "90" "101" "0" "106" "0" "c.101_106del" "r.(101_106del)" "p.(Ser34_Leu35del)" ""
"0000824540" "00001847" "90" "4539" "1100" "4539" "1100" "c.4539+1100A>G" "r.([4539_4540ins[4539+1033_4539+1099;g],=])" "p.[(Arg1514Glyfs*3,=)]" ""
"0000824541" "00001847" "90" "2424" "0" "2424" "0" "c.2424C>G" "r.(2424c>g)" "p.(Tyr808*)" ""
"0000824542" "00001847" "90" "4539" "1100" "4539" "1100" "c.4539+1100A>G" "r.([4539_4540ins[4539+1033_4539+1099;g],=])" "p.[(Arg1514Glyfs*3,=)]" ""
"0000824543" "00001847" "90" "2424" "0" "2424" "0" "c.2424C>G" "r.(2424c>g)" "p.(Tyr808*)" ""
"0000824544" "00001847" "90" "4539" "1100" "4539" "1100" "c.4539+1100A>G" "r.([4539_4540ins[4539+1033_4539+1099;g],=])" "p.[(Arg1514Glyfs*3,=)]" ""
"0000824545" "00001847" "90" "3065" "0" "3065" "0" "c.3065A>G" "r.(3065a>g)" "p.(Glu1022Gly)" ""
"0000824546" "00001847" "90" "4539" "1100" "4539" "1100" "c.4539+1100A>G" "r.([4539_4540ins[4539+1033_4539+1099;g],=])" "p.[(Arg1514Glyfs*3,=)]" ""
"0000824547" "00001847" "90" "319" "0" "319" "0" "c.319C>T" "r.(319c>u)" "p.(Arg107*)" ""
"0000824548" "00001847" "90" "4539" "1100" "4539" "1100" "c.4539+1100A>G" "r.([4539_4540ins[4539+1033_4539+1099;g],=])" "p.[(Arg1514Glyfs*3,=)]" ""
"0000824553" "00001847" "90" "6317" "0" "6317" "0" "c.6317G>A" "r.(6317g>a)" "p.(Arg2106His)" ""
"0000824554" "00001847" "90" "4539" "1100" "4539" "1100" "c.4539+1100A>G" "r.([4539_4540ins[4539+1033_4539+1099;g],=])" "p.[(Arg1514Glyfs*3,=)]" ""
"0000824555" "00001847" "90" "2063" "0" "2063" "0" "c.2063dup" "r.(2063dup)" "p.(Asn688Lysfs*78)" ""
"0000824556" "00001847" "90" "5461" "-1321" "5461" "-1321" "c.5461-1321A>G" "r.([=,5460_5461ins5461-1435_5461-1322])" "p.[(=,Thr1821Argfs*18)]" ""
"0000824559" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.(2588g>c)" "p.[(Gly863Ala,Gly863del)]" ""
"0000824562" "00001847" "90" "5461" "-1321" "5461" "-1321" "c.5461-1321A>G" "r.([=,5460_5461ins5461-1435_5461-1322])" "p.[(=,Thr1821Argfs*18)]" ""
"0000824579" "00001847" "90" "3389" "0" "3389" "0" "c.3389T>C" "r.(3389u>c)" "p.(Ile1130Thr)" ""
"0000824582" "00001847" "90" "5461" "-1321" "5461" "-1321" "c.5461-1321A>G" "r.([=,5460_5461ins5461-1435_5461-1322])" "p.[(=,Thr1821Argfs*18)]" ""
"0000824588" "00001847" "90" "5318" "0" "5318" "0" "c.5318C>T" "r.(5318c>u)" "p.(Ala1773Val)" ""
"0000824589" "00001847" "90" "5461" "-1321" "5461" "-1321" "c.5461-1321A>G" "r.([=,5460_5461ins5461-1435_5461-1322])" "p.[(=,Thr1821Argfs*18)]" ""
"0000824595" "00001847" "90" "5762" "0" "5762" "0" "c.5762T>G" "r.(5762u>g)" "p.(Val1921Gly)" ""
"0000824598" "00001847" "90" "5461" "-1321" "5461" "-1321" "c.5461-1321A>G" "r.([=,5460_5461ins5461-1435_5461-1322])" "p.[(=,Thr1821Argfs*18)]" ""
"0000824600" "00001847" "90" "5461" "-1321" "5461" "-1321" "c.5461-1321A>G" "r.([=,5460_5461ins5461-1435_5461-1322])" "p.[(=,Thr1821Argfs*18)]" ""
"0000824601" "00001847" "90" "6389" "0" "6389" "0" "c.6389T>A" "r.(6389u>a)" "p.(Met2130Lys)" ""
"0000824604" "00001847" "90" "6119" "0" "6119" "0" "c.6119G>A" "r.(6119g>a)" "p.(Arg2040Gln)" ""
"0000824606" "00001847" "90" "67" "-140" "161" "-355" "c.67-140_161-355del" "r.(67_160del)" "p.(Ile23Alafs*24)" ""
"0000824608" "00001847" "90" "5327" "0" "5327" "0" "c.5327C>T" "r.(5327c>u)" "p.(Pro1776Leu)" ""
"0000824611" "00001847" "90" "4128" "246" "6006" "-716" "c.4128+246_6006-716dup" "r.(4129_6005dup)" "p.(Ser2002Argfs*13)" ""
"0000824613" "00001847" "90" "6328" "0" "6328" "0" "c.6328T>C" "r.(6328u>c)" "p.(Trp2110Arg)" ""
"0000824615" "00001847" "90" "5313" "-85" "6147" "21" "c.5313-85_6147+21dup" "r.(5313_6147dup)" "p.(Val2050Metfs*15)" ""
"0000824633" "00001847" "30" "3547" "0" "3547" "0" "c.3547G>T" "r.(?)" "p.(Gly1183Cys)" ""
"0000824641" "00001847" "50" "1906" "0" "1906" "0" "c.1906C>A" "r.(?)" "p.(Gln636Lys)" ""
"0000824642" "00001847" "50" "4748" "0" "4748" "0" "c.4748T>C" "r.(?)" "p.(Leu1583Pro)" ""
"0000824654" "00001847" "50" "4748" "0" "4748" "0" "c.4748T>C" "r.(?)" "p.(Leu1583Pro)" ""
"0000824657" "00001847" "50" "1958" "0" "1958" "0" "c.1958G>A" "r.(?)" "p.(Arg653His)" ""
"0000824674" "00001847" "50" "1522" "0" "1522" "0" "c.1522C>T" "r.(?)" "p.(Arg508Cys)" ""
"0000824681" "00001847" "30" "6146" "0" "6146" "0" "c.6146del" "r.(?)" "p.(Lys2049ArgfsTer12)" ""
"0000824682" "00001847" "50" "6286" "0" "6286" "0" "c.6286G>A" "r.(?)" "p.(Glu2096Lys)" ""
"0000824686" "00001847" "50" "2540" "0" "2540" "0" "c.2540C>T" "r.(?)" "p.(Ala847Val)" ""
"0000824687" "00001847" "90" "1699" "0" "1699" "0" "c.1699G>A" "r.(?)" "p.(Val567Met)" ""
"0000824688" "00001847" "50" "880" "0" "880" "0" "c.880C>T" "r.(?)" "p.(Gln294Ter)" ""
"0000824692" "00001847" "50" "1933" "0" "1933" "0" "c.1933G>A" "r.(?)" "p.(Asp645Asn)" ""
"0000824693" "00001847" "90" "6445" "0" "6445" "0" "c.6445C>T" "r.(?)" "p.(Arg2149Ter)" ""
"0000824702" "00001847" "90" "1522" "0" "1522" "0" "c.1522C>T" "r.(?)" "p.(Arg508Cys)" ""
"0000824712" "00001847" "50" "1760" "2" "1760" "2" "c.1760+2T>G" "r.spl" "p.?" ""
"0000824740" "00001847" "50" "1699" "0" "1699" "0" "c.1699G>A" "r.(?)" "p.(Val567Met)" ""
"0000824750" "00001847" "70" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" ""
"0000824751" "00001847" "50" "1522" "0" "1522" "0" "c.1522C>T" "r.(?)" "p.(Arg508Cys)" ""
"0000824752" "00001847" "30" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" ""
"0000824753" "00001847" "50" "869" "0" "869" "0" "c.869G>A" "r.(?)" "p.(Arg290Gln)" ""
"0000824759" "00001847" "30" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" ""
"0000824760" "00001847" "50" "869" "0" "869" "0" "c.869G>A" "r.(?)" "p.(Arg290Gln)" ""
"0000824762" "00001847" "50" "4748" "0" "4748" "0" "c.4748T>C" "r.(?)" "p.(Leu1583Pro)" ""
"0000824770" "00001847" "50" "1906" "0" "1906" "0" "c.1906C>A" "r.(?)" "p.(Gln636Lys)" ""
"0000824774" "00001847" "70" "3349" "0" "3349" "0" "c.3349A>G" "r.(?)" "p.(Thr1117Ala)" ""
"0000824775" "00001847" "50" "3398" "0" "3398" "0" "c.3398T>C" "r.(?)" "p.(Ile1133Thr)" ""
"0000824777" "00001847" "70" "6088" "0" "6088" "0" "c.6088C>T" "r.(?)" "p.(Arg2030Ter)" ""
"0000824781" "00001847" "50" "3470" "0" "3470" "0" "c.3470T>G" "r.(?)" "p.(Leu1157Ter)" ""
"0000824782" "00001847" "90" "1933" "0" "1933" "0" "c.1933G>A" "r.(?)" "p.(Asp645Asn)" ""
"0000824786" "00001847" "50" "1906" "0" "1906" "0" "c.1906C>A" "r.(?)" "p.(Gln636Lys)" ""
"0000824791" "00001847" "90" "4383" "0" "4383" "0" "c.4383G>A" "r.(?)" "p.(Trp1461Ter)" ""
"0000824892" "00001847" "90" "179" "0" "179" "0" "c.179C>T" "r.(179c>u)" "p.(Ala60Val)" ""
"0000824893" "00001847" "90" "740" "0" "740" "0" "c.740A>T" "r.(740a>u)" "p.(Asn247Ile)" ""
"0000824894" "00001847" "90" "763" "0" "763" "0" "c.763C>T" "r.(763c>u)" "p.(Arg255Cys)" ""
"0000824895" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(1804c>u)" "p.(Arg602Trp)" ""
"0000824896" "00001847" "90" "1808" "0" "1808" "0" "c.1808A>G" "r.(1808a>g)" "p.(Tyr603Cys)" ""
"0000824897" "00001847" "90" "6112" "0" "6112" "0" "c.6112C>T" "r.(6112c>u)" "p.(Arg2038Trp)" ""
"0000824898" "00001847" "90" "1908" "0" "1908" "0" "c.1908G>T" "r.(1908g>u)" "p.(Gln636His)" ""
"0000824899" "00001847" "90" "2023" "0" "2023" "0" "c.2023G>A" "r.(2023g>a)" "p.(Val675Ile)" ""
"0000824900" "00001847" "90" "3056" "0" "3056" "0" "c.3056C>T" "r.(3056c>u)" "p.(Thr1019Met)" ""
"0000824901" "00001847" "90" "3083" "0" "3083" "0" "c.3083C>A" "r.(3083c>a)" "p.(Ala1028Asp)" ""
"0000824902" "00001847" "90" "6282" "1" "6282" "1" "c.6282+1G>C" "r.spl" "p.(?)" ""
"0000824903" "00001847" "90" "6454" "0" "6454" "0" "c.6454G>C" "r.(6454g>c)" "p.(Gly2152Arg)" ""
"0000824904" "00001847" "90" "6480" "-3" "6480" "-3" "c.6480-3T>C" "r.spl" "p.(?)" ""
"0000824905" "00001847" "90" "6563" "0" "6563" "0" "c.6563T>C" "r.(6563u>c)" "p.(Phe2188Ser)" ""
"0000825487" "00001847" "50" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" ""
"0000825488" "00001847" "50" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" ""
"0000825489" "00001847" "50" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" ""
"0000825490" "00001847" "50" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" ""
"0000825493" "00001847" "50" "4610" "0" "4610" "0" "c.4610C>T" "r.(?)" "p.(Thr1537Met)" ""
"0000825494" "00001847" "50" "4555" "0" "4555" "0" "c.4555del" "r.(?)" "p.(Thr1519ArgfsTer7)" ""
"0000825495" "00001847" "50" "3626" "0" "3626" "0" "c.3626T>C" "r.(?)" "p.(Met1209Thr)" ""
"0000825496" "00001847" "50" "53" "0" "53" "0" "c.53G>C" "r.(?)" "p.(Arg18Pro)" ""
"0000825497" "00001847" "50" "6118" "0" "6118" "0" "c.6118C>T" "r.(?)" "p.(Arg2040Ter)" ""
"0000825498" "00001847" "50" "71" "0" "71" "0" "c.71G>A" "r.(?)" "p.(Arg24His)" ""
"0000825499" "00001847" "50" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" ""
"0000825500" "00001847" "50" "5593" "0" "5593" "0" "c.5593C>T" "r.(?)" "p.(His1865Tyr)" ""
"0000825501" "00001847" "50" "575" "0" "575" "0" "c.575C>T" "r.(?)" "p.(Ala192Val)" ""
"0000825502" "00001847" "50" "6479" "1" "6479" "1" "c.6479+1G>C" "r.spl" "p.?" ""
"0000825503" "00001847" "50" "763" "0" "763" "0" "c.763C>T" "r.(?)" "p.(Arg255Cys)" ""
"0000825504" "00001847" "50" "4030" "0" "4030" "0" "c.4030C>G" "r.(?)" "p.(Leu1344Val)" ""
"0000825505" "00001847" "50" "6397" "0" "6397" "0" "c.6397T>C" "r.(?)" "p.(Cys2133Arg)" ""
"0000825506" "00001847" "50" "4178" "0" "4178" "0" "c.4178T>C" "r.(?)" "p.(Val1393Ala)" ""
"0000825507" "00001847" "50" "3626" "0" "3626" "0" "c.3626T>C" "r.(?)" "p.(Met1209Thr)" ""
"0000825571" "00001847" "50" "5196" "1" "5196" "1" "c.5196+1G>A" "r.spl" "p.?" ""
"0000825572" "00001847" "50" "5196" "1" "5196" "1" "c.5196+1G>A" "r.spl" "p.?" ""
"0000825578" "00001847" "50" "6397" "0" "6397" "0" "c.6397T>C" "r.(?)" "p.(Cys2133Arg)" ""
"0000825579" "00001847" "50" "4283" "0" "4283" "0" "c.4283C>T" "r.(?)" "p.(Thr1428Met)" ""
"0000825580" "00001847" "50" "2055" "0" "2055" "0" "c.2055del" "r.(?)" "p.(Leu686Ter)" ""
"0000825581" "00001847" "50" "6305" "0" "6305" "0" "c.6305A>G" "r.(?)" "p.(Asp2102Gly)" ""
"0000825682" "00001847" "70" "4773" "5" "4773" "5" "c.4773+5G>A" "r.spl?" "p.?" "33i"
"0000825683" "00001847" "70" "1561" "0" "1561" "0" "c.1561del" "r.(?)" "p.(Val521Serfs*47)" "12"
"0000825709" "00001847" "70" "5512" "0" "5512" "0" "c.5512C>T" "r.(?)" "p.(His1838Tyr)" "39"
"0000825736" "00001847" "70" "2424" "0" "2424" "0" "c.2424C>G" "r.(?)" "p.(Tyr808*)" "16"
"0000825737" "00001847" "70" "1933" "0" "1933" "0" "c.1933G>A" "r.(?)" "p.(Asp645Asn)" "13"
"0000825795" "00001847" "70" "6088" "0" "6088" "0" "c.6088C>T" "r.(?)" "p.(Arg2030*)" "44"
"0000825796" "00001847" "70" "5318" "0" "5318" "0" "c.5318C>T" "r.(?)" "p.(Ala1773Val)" "38"
"0000825797" "00001847" "70" "6563" "0" "6563" "0" "c.6563T>C" "r.(?)" "p.(Phe2188Ser)" "48"
"0000825798" "00001847" "70" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000825898" "00001847" "70" "6563" "0" "6563" "0" "c.6563T>C" "r.(?)" "p.(Phe2188Ser)" "48"
"0000825899" "00001847" "70" "3352" "0" "3352" "0" "c.3352C>T" "r.(?)" "p.(His1118Tyr)" "23"
"0000825921" "00001847" "70" "5881" "0" "5881" "0" "c.5881G>A" "r.(?)" "p.(Gly1961Arg)" "42"
"0000825922" "00001847" "70" "157" "0" "157" "0" "c.157G>T" "r.(?)" "p.(Glu53*)" "2"
"0000825946" "00001847" "70" "6050" "0" "6050" "0" "c.6050G>A" "r.(?)" "p.(Cys2017Tyr)" "44"
"0000825947" "00001847" "70" "5196" "1" "5196" "1" "c.5196+1G>A" "r.spl?" "p.?" "36i"
"0000825980" "00001847" "70" "6667" "0" "6667" "0" "c.6667dup" "r.(?)" "p.(Leu2223Profs*28)" "48"
"0000825981" "00001847" "70" "1714" "0" "1714" "0" "c.1714C>T" "r.(?)" "p.(Arg572*)" "12"
"0000825996" "00001847" "70" "101" "0" "106" "0" "c.101_106del" "r.(?)" "p.(Ser34_Leu35del)" "2"
"0000825997" "00001847" "70" "2909" "0" "2909" "0" "c.2909C>T" "r.(?)" "p.(Thr970Ile)" "19"
"0000825998" "00001847" "70" "5313" "-1" "6147" "1" "c.5313-1_6147+1dup" "r.spl?" "p.?" "37i_44i"
"0000826022" "00001847" "70" "3785" "0" "3785" "0" "c.3785T>C" "r.(?)" "p.(Phe1262Ser)" "25"
"0000826023" "00001847" "70" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000826028" "00001847" "70" "6729" "1" "6729" "1" "c.6729+1G>A" "r.spl?" "p.?" "48i"
"0000826029" "00001847" "70" "3104" "0" "3104" "0" "c.3104del" "r.(?)" "p.(Gln1035Argfs*49)" "21"
"0000826031" "00001847" "70" "2903" "0" "2903" "0" "c.2903G>A" "r.(?)" "p.(Gly968Glu)" "19"
"0000826032" "00001847" "70" "1933" "0" "1933" "0" "c.1933G>A" "r.(?)" "p.(Asp645Asn)" "13"
"0000826033" "00001847" "70" "6118" "0" "6118" "0" "c.6118C>T" "r.(?)" "p.(Arg2040*)" "44"
"0000826034" "00001847" "70" "1933" "0" "1933" "0" "c.1933G>A" "r.(?)" "p.(Asp645Asn)" "13"
"0000826063" "00001847" "70" "1294" "0" "1294" "0" "c.1294G>A" "r.(?)" "p.(Glu432Lys)" "10"
"0000826064" "00001847" "70" "2473" "0" "2473" "0" "c.2473G>A" "r.(?)" "p.(Gly825Arg)" "16"
"0000826065" "00001847" "70" "6118" "0" "6118" "0" "c.6118C>T" "r.(?)" "p.(Arg2040*)" "44"
"0000826066" "00001847" "70" "3056" "0" "3056" "0" "c.3056C>T" "r.(?)" "p.(Thr1019Met)" "21"
"0000826067" "00001847" "70" "5088" "0" "5088" "0" "c.5088C>A" "r.(?)" "p.(Ser1696Arg)" "36"
"0000826068" "00001847" "70" "2063" "0" "2063" "0" "c.2063dup" "r.(?)" "p.(Asn688Lysfs*78)" "14"
"0000826103" "00001847" "70" "6286" "0" "6286" "0" "c.6286G>A" "r.(?)" "p.(Glu2096Lys)" "46"
"0000826104" "00001847" "70" "4352" "1" "4352" "1" "c.4352+1G>A" "r.spl?" "p.?" "29i"
"0000826109" "00001847" "70" "6669" "0" "6670" "0" "c.6669_6670ins28" "r.(?)" "p.?" "48"
"0000826110" "00001847" "70" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000826112" "00001847" "70" "1951" "0" "1951" "0" "c.1951C>T" "r.(=)" "p.(=)" "14"
"0000826113" "00001847" "70" "4217" "0" "4217" "0" "c.4217A>G" "r.(?)" "p.(His1406Arg)" "28"
"0000826121" "00001847" "70" "6050" "0" "6050" "0" "c.6050G>A" "r.(?)" "p.(Cys2017Tyr)" "44"
"0000826122" "00001847" "70" "3106" "0" "3106" "0" "c.3106G>A" "r.(?)" "p.(Glu1036Lys)" "21"
"0000826144" "00001847" "70" "1561" "0" "1561" "0" "c.1561del" "r.(?)" "p.(Val521Serfs*47)" "12"
"0000826145" "00001847" "70" "6112" "0" "6112" "0" "c.6112C>T" "r.(?)" "p.(Arg2038Trp)" "44"
"0000826159" "00001847" "70" "2424" "0" "2424" "0" "c.2424C>G" "r.(?)" "p.(Tyr808*)" "16"
"0000826160" "00001847" "70" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000826163" "00001847" "70" "2401" "0" "2401" "0" "c.2401C>T" "r.(?)" "p.?" "16"
"0000826164" "00001847" "70" "101" "0" "106" "0" "c.101_106del" "r.(?)" "p.(Ser34_Leu35del)" "2"
"0000826165" "00001847" "70" "4076" "0" "4076" "0" "c.4076T>C" "r.(?)" "p.(Leu1359Pro)" "27"
"0000826166" "00001847" "70" "1561" "0" "1561" "0" "c.1561del" "r.(?)" "p.(Val521Serfs*47)" "12"
"0000826181" "00001847" "70" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000826182" "00001847" "70" "2424" "0" "2424" "0" "c.2424C>G" "r.(?)" "p.(Tyr808*)" "16"
"0000826185" "00001847" "70" "4532" "0" "4532" "0" "c.4532C>A" "r.(?)" "p.(Pro1511His)" "30"
"0000826186" "00001847" "70" "3420" "0" "3420" "0" "c.3420C>G" "r.(?)" "p.(Cys1140Trp)" "23"
"0000826193" "00001847" "70" "2424" "0" "2424" "0" "c.2424C>G" "r.(?)" "p.(Tyr808*)" "16"
"0000826197" "00001847" "70" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000826220" "00001847" "70" "3808" "0" "3808" "0" "c.3808G>T" "r.(?)" "p.(Glu1270*)" "25"
"0000826221" "00001847" "70" "1680" "0" "1680" "0" "c.1680del" "r.(?)" "p.(Ser561Alafs*7)" "12"
"0000826227" "00001847" "70" "6095" "0" "6095" "0" "c.6095A>G" "r.(?)" "p.(His2032Arg)" "44"
"0000826228" "00001847" "70" "2424" "0" "2424" "0" "c.2424C>G" "r.(?)" "p.(Tyr808*)" "16"
"0000826242" "00001847" "70" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000826250" "00001847" "70" "1680" "0" "1680" "0" "c.1680del" "r.(?)" "p.(Ser561Alafs*7)" "12"
"0000826251" "00001847" "70" "2161" "-2" "2161" "-2" "c.2161-2A>G" "r.spl?" "p.?" "14i"
"0000826270" "00001847" "70" "1648" "0" "1648" "0" "c.1648G>A" "r.(?)" "p.(Gly550Arg)" "12"
"0000826271" "00001847" "70" "3015" "0" "3015" "0" "c.3015del" "r.(?)" "p.(Gly1006Alafs*25)" "20"
"0000826281" "00001847" "70" "4667" "1" "4667" "1" "c.4667+1G>T" "r.spl?" "p.?" "32i"
"0000826282" "00001847" "70" "1958" "0" "1958" "0" "c.1958G>A" "r.(?)" "p.(Arg653His)" "14"
"0000826318" "00001847" "70" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000826322" "00001847" "70" "4297" "0" "4297" "0" "c.4297G>A" "r.(?)" "p.(Val1433Ile)" "29"
"0000826323" "00001847" "70" "3626" "0" "3626" "0" "c.3626T>C" "r.(?)" "p.(Met1209Thr)" "25"
"0000826335" "00001847" "70" "4253" "4" "4253" "4" "c.4253+4C>T" "r.spl?" "p.?" "28i"
"0000826357" "00001847" "70" "1715" "0" "1715" "0" "c.1715G>A" "r.(?)" "p.(Arg572Gln)" "12"
"0000826358" "00001847" "70" "5196" "1159" "5196" "1159" "c.5196+1159G>A" "r.(=)" "p.(=)" "36i"
"0000826361" "00001847" "70" "4773" "5" "4773" "5" "c.4773+5G>A" "r.spl?" "p.?" "33i"
"0000826362" "00001847" "70" "1561" "0" "1561" "0" "c.1561del" "r.(?)" "p.(Val521Serfs*47)" "12"
"0000826363" "00001847" "70" "763" "0" "763" "0" "c.763C>T" "r.(?)" "p.(Arg255Cys)" "6"
"0000826364" "00001847" "70" "5196" "1159" "5196" "1159" "c.5196+1159G>A" "r.(=)" "p.(=)" "36i"
"0000826368" "00001847" "70" "6289" "0" "6289" "0" "c.6289C>T" "r.(?)" "p.(Pro2097Ser)" "46"
"0000826369" "00001847" "70" "2424" "0" "2424" "0" "c.2424C>G" "r.(?)" "p.(Tyr808*)" "16"
"0000826370" "00001847" "70" "6088" "0" "6088" "0" "c.6088C>T" "r.(?)" "p.(Arg2030*)" "44"
"0000826371" "00001847" "70" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000826385" "00001847" "70" "6563" "0" "6563" "0" "c.6563T>C" "r.(?)" "p.(Phe2188Ser)" "48"
"0000826386" "00001847" "70" "6112" "0" "6112" "0" "c.6112C>T" "r.(?)" "p.(Arg2038Trp)" "44"
"0000826389" "00001847" "70" "763" "0" "763" "0" "c.763C>T" "r.(?)" "p.(Arg255Cys)" "6"
"0000826390" "00001847" "70" "2424" "0" "2424" "0" "c.2424C>G" "r.(?)" "p.(Tyr808*)" "16"
"0000826396" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000826397" "00001847" "70" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000826506" "00001847" "90" "1819" "0" "1819" "0" "c.1819G>A" "r.(?)" "p.(Gly607Arg)" "13"
"0000826510" "00001847" "90" "3260" "0" "3260" "0" "c.3260A>G" "r.(?)" "p.(Glu1087Gly)" "22"
"0000826511" "00001847" "90" "3260" "0" "3260" "0" "c.3260A>G" "r.(?)" "p.(Glu1087Gly)" "22"
"0000826517" "00001847" "90" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" ""
"0000826958" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "5"
"0000826959" "00001847" "70" "2537" "0" "2537" "0" "c.2537A>T" "r.(?)" "p.(Asp846Val)" "16"
"0000826960" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.spl" "p.[Val256=,Leu257Valfs*17]" "6"
"0000826961" "00001847" "90" "1964" "0" "1964" "0" "c.1964T>G" "r.(?)" "p.(Phe655Cys)" "13"
"0000826962" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.spl" "p.[Val256=,Leu257Valfs*17]" "6"
"0000826963" "00001847" "70" "2537" "0" "2537" "0" "c.2537A>T" "r.(?)" "p.(Asp846Val)" "16"
"0000826964" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.spl" "p.[Val256=,Leu257Valfs*17]" "6"
"0000826965" "00001847" "50" "5693" "0" "5693" "0" "c.5693G>A" "r.(?)" "p.(Arg1898His)" "40"
"0000826966" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.spl" "p.[Val256=,Leu257Valfs*17]" "6"
"0000826967" "00001847" "90" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" "43"
"0000826968" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.spl" "p.[Val256=,Leu257Valfs*17]" "6"
"0000826969" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.spl" "p.[Val256=,Leu257Valfs*17]" "6"
"0000826970" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "11"
"0000826971" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "20"
"0000826972" "00001847" "70" "4179" "0" "4179" "0" "c.4179del" "r.(?)" "p.(Ile1394Serfs*10)" "27"
"0000826973" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "39"
"0000826974" "00001847" "90" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.spl" "p.?" "36"
"0000826975" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38"
"0000828085" "00001847" "70" "673" "0" "673" "0" "c.673G>A" "r.(?)" "p.(Val225Met)" ""
"0000828086" "00001847" "90" "1760" "2" "1760" "2" "c.1760+2T>C" "r.(?)" "p.?" ""
"0000828087" "00001847" "70" "4124" "0" "4124" "0" "c.4124C>A" "r.(?)" "p.(Ala1375Glu)" ""
"0000828088" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" ""
"0000828089" "00001847" "70" "3758" "0" "3758" "0" "c.3758C>T" "r.(?)" "p.(Thr1253Met)" ""
"0000828090" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" ""
"0000828091" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" ""
"0000828092" "00001847" "70" "2401" "0" "2401" "0" "c.2401G>A" "r.(?)" "p.(Ala801Thr)" ""
"0000828093" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" ""
"0000828094" "00001847" "90" "1302" "0" "1302" "0" "c.1302delA" "r.(?)" "p.(Gln437Argfs*12)" ""
"0000828095" "00001847" "70" "1807" "0" "1807" "0" "c.1807T>C" "r.(?)" "p.(Tyr603His)" ""
"0000828107" "00001847" "90" "6119" "0" "6119" "0" "c.6119G>A" "r.(?)" "p.(Arg2040Gln)" ""
"0000828108" "00001847" "70" "3727" "0" "3727" "0" "c.3727T>G" "r.(?)" "p.(Tyr1243Asp)" ""
"0000828109" "00001847" "70" "5377" "0" "5377" "0" "c.5377G>A" "r.(?)" "p.(Val1793Met)" ""
"0000828110" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000828111" "00001847" "50" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" ""
"0000828112" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000828113" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000828114" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.[(Gly863Ala,Gly863del)" ""
"0000828115" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000828116" "00001847" "90" "5018" "2" "5018" "2" "c.5018+2T>C" "r.spl" "p.?" ""
"0000828117" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000828118" "00001847" "70" "4297" "0" "4297" "0" "c.4297G>A" "r.(?)" "p.(Val1433Ile)" ""
"0000828119" "00001847" "70" "4496" "0" "4496" "0" "c.4496T>C" "r.(?)" "p.(Leu1499Pro)" ""
"0000828320" "00001847" "50" "4667" "1" "4667" "1" "c.4667+1G>A" "r.spl" "p.?" ""
"0000828321" "00001847" "50" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" ""
"0000828322" "00001847" "50" "2690" "0" "2690" "0" "c.2690C>T" "r.(?)" "p.(Thr897Ile)" ""
"0000828350" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000828733" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" ""
"0000828734" "00001847" "70" "5761" "0" "5761" "0" "c.5761G>A" "r.(?)" "p.(Val1921Met)" ""
"0000828755" "00001847" "70" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" ""
"0000828757" "00001847" "70" "6127" "0" "6127" "0" "c.6127C>T" "r.(?)" "p.(Pro2043Ser)" ""
"0000828760" "00001847" "90" "6146" "0" "6146" "0" "c.6146del" "r.(?)" "p.(Lys2049Argfs*12)" ""
"0000828765" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" ""
"0000828766" "00001847" "70" "3304" "0" "3304" "0" "c.3304G>T" "r.(?)" "p.(Asp1102Tyr)" ""
"0000828770" "00001847" "90" "1561" "0" "1561" "0" "c.1561del" "r.(?)" "p.(Val521Serfs*47)" ""
"0000828773" "00001847" "90" "4846" "0" "4847" "0" "c.4846_4847insT" "r.(?)" "p.(Lys1616Ilefs*5)" ""
"0000828775" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" ""
"0000828783" "00001847" "90" "6816" "1" "6816" "1" "c.6816+1G>A" "r.spl" "p.?" ""
"0000828785" "00001847" "70" "6112" "0" "6112" "0" "c.6112C>T" "r.(?)" "p.(Arg2038Trp)" ""
"0000828786" "00001847" "70" "4070" "0" "4070" "0" "c.4070C>A" "r.(?)" "p.(Ala1357Glu)" ""
"0000828787" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" ""
"0000828788" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" ""
"0000828789" "00001847" "70" "6119" "0" "6119" "0" "c.6119G>A" "r.(?)" "p.(Arg2040Gln)" ""
"0000828804" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" ""
"0000828805" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" ""
"0000828806" "00001847" "70" "5501" "0" "5501" "0" "c.5501T>C" "r.(?)" "p.(Ile1834Thr)" ""
"0000828807" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" ""
"0000828808" "00001847" "50" "5761" "0" "5761" "0" "c.5761G>A" "r.(?)" "p.(Val1921Met)" ""
"0000828809" "00001847" "70" "3287" "0" "3287" "0" "c.3287C>T" "r.(?)" "p.(Ser1096Leu)" ""
"0000828810" "00001847" "70" "2827" "0" "2827" "0" "c.2827C>T" "r.(?)" "p.(Arg943Trp)" ""
"0000828811" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" ""
"0000828816" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" ""
"0000828829" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" ""
"0000828887" "00001847" "70" "101" "0" "106" "0" "c.101_106del" "r.(?)" "p.(Ser34_Leu35del)" ""
"0000828896" "00001847" "90" "6479" "1" "6479" "1" "c.6479+1G>C" "r.spl" "p.?" ""
"0000828906" "00001847" "70" "3274" "0" "3274" "0" "c.3274G>T" "r.(?)" "p.(Val1092Leu)" ""
"0000828938" "00001847" "70" "101" "0" "106" "0" "c.101_106del" "r.(?)" "p.(Ser34_Leu35del)" ""
"0000828939" "00001847" "70" "101" "0" "106" "0" "c.101_106del" "r.(?)" "p.(Ser34_Leu35del)" ""
"0000828960" "00001847" "70" "1531" "0" "1531" "0" "c.1531C>T" "r.(?)" "p.(Arg511Cys)" ""
"0000828962" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" ""
"0000828965" "00001847" "90" "2424" "0" "2424" "0" "c.2424C>G" "r.(?)" "p.(Tyr808*)" ""
"0000828970" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" ""
"0000828971" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" ""
"0000828975" "00001847" "70" "3004" "0" "3004" "0" "c.3004C>T" "r.(?)" "p.(Arg1002Trp)" ""
"0000828978" "00001847" "50" "3329" "-3" "3329" "-3" "c.3329-3C>G" "r.spl?" "p.(?)" ""
"0000828980" "00001847" "70" "3352" "0" "3352" "0" "c.3352C>T" "r.(?)" "p.(His1118Tyr)" ""
"0000828988" "00001847" "90" "400" "0" "400" "0" "c.400C>T" "r.(?)" "p.(Gln134*)" ""
"0000828990" "00001847" "70" "4505" "0" "4505" "0" "c.4505G>A" "r.(?)" "p.(Cys1502Tyr)" ""
"0000828991" "00001847" "70" "4519" "0" "4519" "0" "c.4519G>A" "r.(?)" "p.(Gly1507Arg)" ""
"0000828992" "00001847" "70" "4519" "0" "4519" "0" "c.4519G>A" "r.(?)" "p.(Gly1507Arg)" ""
"0000828993" "00001847" "70" "4555" "0" "4555" "0" "c.4555del" "r.(?)" "p.(Thr1519Argfs*7)" ""
"0000828994" "00001847" "70" "4555" "0" "4555" "0" "c.4555del" "r.(?)" "p.(Thr1519Argfs*7)" ""
"0000829009" "00001847" "70" "5645" "0" "5645" "0" "c.5645T>C" "r.(?)" "p.(Met1882Thr)" ""
"0000829010" "00001847" "50" "5761" "0" "5761" "0" "c.5761G>A" "r.(?)" "p.(Val1921Met)" ""
"0000829011" "00001847" "70" "6113" "0" "6113" "0" "c.6113G>A" "r.(?)" "p.(Arg2038Gln)" ""
"0000829012" "00001847" "70" "6113" "0" "6113" "0" "c.6113G>A" "r.(?)" "p.(Arg2038Gln)" ""
"0000829013" "00001847" "90" "6118" "0" "6118" "0" "c.6118C>T" "r.(?)" "p.(Arg2040*)" ""
"0000829014" "00001847" "70" "6190" "0" "6190" "0" "c.6190G>A" "r.(?)" "p.(Ala2064Thr)" ""
"0000829015" "00001847" "50" "6498" "0" "6498" "0" "c.6498C>G" "r.(?)" "p.(Ile2166Met)" ""
"0000829016" "00001847" "70" "6722" "0" "6722" "0" "c.6722T>C" "r.(?)" "p.(Leu2241Pro)" ""
"0000829021" "00001847" "70" "71" "0" "71" "0" "c.71G>A" "r.(?)" "p.(Arg24His)" ""
"0000829034" "00001847" "90" "858" "2" "858" "2" "c.858+2T>A" "r.spl" "p.?" ""
"0000829700" "00001847" "90" "2041" "0" "2041" "0" "c.2041C>T" "r.(?)" "p.(Arg681Ter)" ""
"0000829701" "00001847" "90" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" ""
"0000829702" "00001847" "90" "1335" "0" "1335" "0" "c.1335C>G" "r.(?)" "p.(Ser445Arg)" ""
"0000829707" "00001847" "90" "4537" "0" "4537" "0" "c.4537dup" "r.(?)" "p.(Gln1513ProfsTer42)" ""
"0000829712" "00001847" "70" "2713" "0" "2713" "0" "c.2713del" "r.(?)" "p.(Glu905ArgfsTer27)" ""
"0000829716" "00001847" "90" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" ""
"0000829720" "00001847" "90" "4222" "0" "4222" "0" "c.4222T>C" "r.(?)" "p.(Trp1408Arg)" ""
"0000829721" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl?" "p.?" ""
"0000829722" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl?" "p.?" ""
"0000829723" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl?" "p.?" ""
"0000829728" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl?" "p.?" ""
"0000829732" "00001847" "90" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" ""
"0000829785" "00001847" "70" "735" "0" "735" "0" "c.735T>G" "r.(?)" "p.(Tyr245*)" ""
"0000829786" "00001847" "70" "4320" "0" "4320" "0" "c.4320del" "r.(?)" "p.(Phe1440Leufs*6)" ""
"0000829789" "00001847" "70" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973*)" ""
"0000829806" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000829807" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000829809" "00001847" "70" "868" "0" "868" "0" "c.868C>T" "r.(?)" "p.(Arg290Trp)" ""
"0000834209" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.?" "38i"
"0000834210" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000834211" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000834212" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000834213" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000834214" "00001847" "70" "4926" "0" "4926" "0" "c.4926C>G" "r.(?)" "p.(Ser1642Arg)" "35"
"0000834215" "00001847" "70" "3364" "0" "3364" "0" "c.3364G>A" "r.(?)" "p.(Glu1122Lys)" "23"
"0000834216" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000834217" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000834218" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000834219" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.?" "38i"
"0000834220" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000834221" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.(Gly863Ala)" "17"
"0000834222" "00001847" "90" "93" "0" "93" "0" "c.93G>A" "r.(?)" "p.(Trp31*)" "2"
"0000834223" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000834224" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000834225" "00001847" "70" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000834226" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000834227" "00001847" "90" "3259" "0" "3259" "0" "c.3259G>A" "r.(?)" "p.(Glu1087Lys)" "22"
"0000834228" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000834229" "00001847" "70" "2966" "0" "2966" "0" "c.2966T>C" "r.(?)" "p.(Val989Ala)" "20"
"0000834230" "00001847" "90" "6286" "0" "6286" "0" "c.6286G>A" "r.(?)" "p.(Glu2096Lys)" "46"
"0000834231" "00001847" "70" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" "31"
"0000834232" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000834233" "00001847" "70" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" "31"
"0000834234" "00001847" "90" "1957" "0" "1957" "0" "c.1957C>T" "r.(?)" "p.(Arg653Cys)" "14"
"0000834235" "00001847" "70" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000834236" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.(=)" "p.(=)" "6"
"0000834237" "00001847" "70" "3323" "0" "3323" "0" "c.3323G>A" "r.(?)" "p.(Arg1108His)" "22"
"0000834238" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.?" "38i"
"0000834239" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000834240" "00001847" "90" "617" "0" "618" "0" "c.617_618del" "r.(?)" "p.(Ser206Argfs*73)" "6"
"0000834241" "00001847" "70" "71" "0" "71" "0" "c.71G>A" "r.(?)" "p.(Arg24His)" "2"
"0000834242" "00001847" "90" "6658" "0" "6658" "0" "c.6658C>T" "r.(?)" "p.(Gln2220*)" "48"
"0000834243" "00001847" "90" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071Cysfs*14)" "22"
"0000834244" "00001847" "70" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" "31"
"0000834245" "00001847" "70" "223" "0" "223" "0" "c.223T>C" "r.(?)" "p.(Cys75Arg)" "3"
"0000834246" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.?" "38i"
"0000834247" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.?" "38i"
"0000834248" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.?" "38i"
"0000834249" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.?" "38i"
"0000834250" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.?" "38i"
"0000834251" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.?" "38i"
"0000834252" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.?" "38i"
"0000834253" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.?" "38i"
"0000834254" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.?" "38i"
"0000834255" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.(=)" "p.(=)" "6"
"0000834256" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.?" "38i"
"0000834257" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.(Gly863Ala)" "17"
"0000834258" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.?" "38i"
"0000834259" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000834260" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.?" "38i"
"0000834261" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.(Gly863Ala)" "17"
"0000834262" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.?" "38i"
"0000834263" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000834264" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000834265" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.?" "38i"
"0000834266" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.(=)" "p.(=)" "6"
"0000834267" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.?" "38i"
"0000834268" "00001847" "70" "3703" "0" "3703" "0" "c.3703A>G" "r.(?)" "p.(Asn1235Asp)" "25"
"0000834269" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.?" "38i"
"0000834270" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000834271" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000834272" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.?" "38i"
"0000834273" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.(=)" "p.(=)" "6"
"0000834274" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.?" "38i"
"0000834275" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.(=)" "p.(=)" "6"
"0000834276" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.?" "38i"
"0000834277" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.(=)" "p.(=)" "6"
"0000834278" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.?" "38i"
"0000834279" "00001847" "70" "1822" "0" "1822" "0" "c.1822T>A" "r.(?)" "p.(Phe608Ile)" "13"
"0000834280" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000834281" "00001847" "30" "4203" "0" "4203" "0" "c.4203C>A" "r.(=)" "p.(=)" "28"
"0000834282" "00001847" "90" "5196" "1" "5196" "1" "c.5196+1G>T" "r.spl?" "p.?" "36i"
"0000834283" "00001847" "70" "3734" "0" "3734" "0" "c.3734G>A" "r.(?)" "p.(Ser1245Asn)" "25"
"0000834284" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.?" "38i"
"0000834285" "00001847" "90" "4506" "0" "4506" "0" "c.4506C>A" "r.(?)" "p.(Cys1502*)" "30"
"0000834286" "00001847" "90" "3874" "0" "3874" "0" "c.3874C>T" "r.(?)" "p.(Gln1292*)" "27"
"0000834287" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000834288" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.?" "38i"
"0000834289" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.?" "38i"
"0000834290" "00001847" "90" "3874" "0" "3874" "0" "c.3874C>T" "r.(?)" "p.(Gln1292*)" "27"
"0000834291" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000834292" "00001847" "90" "3874" "0" "3874" "0" "c.3874C>T" "r.(?)" "p.(Gln1292*)" "27"
"0000834293" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.?" "38i"
"0000834294" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.?" "38i"
"0000834295" "00001847" "70" "4363" "0" "4363" "0" "c.4363T>C" "r.(?)" "p.(Cys1455Arg)" "30"
"0000834296" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000834297" "00001847" "70" "1822" "0" "1822" "0" "c.1822T>C" "r.(?)" "p.(Phe608Leu)" "13"
"0000834298" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.(=)" "p.(=)" "6"
"0000834299" "00001847" "90" "5813" "0" "5813" "0" "c.5813T>G" "r.(?)" "p.(Leu1938*)" "41"
"0000834300" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.(Gly863Ala)" "17"
"0000834301" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.(=)" "p.(=)" "6"
"0000834302" "00001847" "90" "4773" "1" "4773" "1" "c.4773+1G>A" "r.spl?" "p.?" "33i"
"0000834303" "00001847" "70" "1822" "0" "1822" "0" "c.1822T>A" "r.(?)" "p.(Phe608Ile)" "13"
"0000834304" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.(=)" "p.(=)" "6"
"0000834305" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000834306" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.(=)" "p.(=)" "6"
"0000834307" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000834308" "00001847" "70" "6746" "0" "6746" "0" "c.6746C>A" "r.(?)" "p.(Ala2249Asp)" "49"
"0000834309" "00001847" "70" "6746" "0" "6746" "0" "c.6746C>A" "r.(?)" "p.(Ala2249Asp)" "49"
"0000834310" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.(=)" "p.(=)" "6"
"0000834311" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000834312" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000834313" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000834314" "00001847" "70" "1891" "0" "1891" "0" "c.1891G>A" "r.(?)" "p.(Gly631Arg)" "13"
"0000834315" "00001847" "90" "1957" "0" "1957" "0" "c.1957C>T" "r.(?)" "p.(Arg653Cys)" "14"
"0000834316" "00001847" "50" "1411" "0" "1411" "0" "c.1411G>A" "r.(?)" "p.(Glu471Lys)" "11"
"0000834317" "00001847" "90" "1903" "0" "1903" "0" "c.1903C>T" "r.(?)" "p.(Gln635*)" "13"
"0000834318" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000834319" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000834320" "00001847" "70" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" "44"
"0000834321" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl?" "p.?" "40i"
"0000834322" "00001847" "90" "3261" "0" "3261" "0" "c.3261A>C" "r.(?)" "p.(Glu1087Asp)" "22"
"0000834323" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl?" "p.?" "40i"
"0000834324" "00001847" "90" "3261" "0" "3261" "0" "c.3261A>C" "r.(?)" "p.(Glu1087Asp)" "22"
"0000834325" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.(Gly863Ala)" "17"
"0000834326" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000834327" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000834328" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.?" "38i"
"0000834329" "00001847" "70" "1719" "0" "1719" "0" "c.1719G>A" "r.(?)" "p.(Met573Ile)" "12"
"0000834330" "00001847" "70" "4195" "0" "4195" "0" "c.4195G>A" "r.(?)" "p.(Glu1399Lys)" "28"
"0000834331" "00001847" "70" "5929" "0" "5929" "0" "c.5929G>A" "r.(?)" "p.(Gly1977Ser)" "43"
"0000834332" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000834333" "00001847" "90" "5189" "0" "5189" "0" "c.5189G>A" "r.(?)" "p.(Trp1730*)" "36"
"0000834334" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000834335" "00001847" "90" "6283" "-2" "6283" "-2" "c.6283-2A>G" "r.spl?" "p.?" "45i"
"0000834336" "00001847" "70" "6283" "-3" "6283" "-3" "c.6283-3C>A" "r.spl?" "p.?" "45i"
"0000834337" "00001847" "70" "4462" "0" "4462" "0" "c.4462T>C" "r.(?)" "p.(Cys1488Arg)" "30"
"0000834338" "00001847" "70" "1009" "0" "1009" "0" "c.1009T>C" "r.(?)" "p.(Phe337Leu)" "8"
"0000834339" "00001847" "90" "1937" "1" "1937" "1" "c.1937+1G>A" "r.spl?" "p.?" "13i"
"0000834340" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000834341" "00001847" "70" "1822" "0" "1822" "0" "c.1822T>A" "r.(?)" "p.(Phe608Ile)" "13"
"0000834342" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000834343" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.(Gly863Ala)" "17"
"0000834344" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000834345" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000834346" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000834347" "00001847" "90" "1584" "0" "1584" "0" "c.1584C>A" "r.(?)" "p.(Tyr528*)" "12"
"0000834348" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000834349" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000834350" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000834351" "00001847" "90" "3212" "0" "3212" "0" "c.3212C>T" "r.(?)" "p.(Ser1071Leu)" "22"
"0000834352" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000834353" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000834354" "00001847" "90" "3212" "0" "3212" "0" "c.3212C>T" "r.(?)" "p.(Ser1071Leu)" "22"
"0000834355" "00001847" "70" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" "35"
"0000834356" "00001847" "70" "5693" "0" "5693" "0" "c.5693G>A" "r.(?)" "p.(Arg1898His)" "40"
"0000834357" "00001847" "50" "1654" "0" "1654" "0" "c.1654G>A" "r.(?)" "p.(Val552Ile)" "12"
"0000834358" "00001847" "50" "4771" "0" "4771" "0" "c.4771G>A" "r.(?)" "p.(Gly1591Arg)" "33"
"0000834359" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000834360" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000834361" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000834362" "00001847" "50" "1928" "0" "1928" "0" "c.1928T>G" "r.(?)" "p.(Val643Gly)" "13"
"0000834363" "00001847" "70" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" "44"
"0000834364" "00001847" "70" "6545" "0" "6580" "0" "c.6545_6580del" "r.(?)" "p.(Leu2182_Phe2193del)" "48"
"0000834365" "00001847" "90" "3871" "0" "3871" "0" "c.3871C>T" "r.(?)" "p.(Gln1291*)" "27"
"0000834366" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000834367" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl?" "p.?" "40i"
"0000834368" "00001847" "90" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973*)" "43"
"0000834369" "00001847" "90" "4234" "0" "4234" "0" "c.4234C>T" "r.(?)" "p.(Gln1412*)" "28"
"0000834370" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000834371" "00001847" "70" "5512" "0" "5512" "0" "c.5512C>G" "r.(?)" "p.(His1838Asp)" "39"
"0000834372" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000834373" "00001847" "70" "1807" "0" "1807" "0" "c.1807T>C" "r.(?)" "p.(Tyr603His)" "13"
"0000834374" "00001847" "70" "4462" "0" "4462" "0" "c.4462T>C" "r.(?)" "p.(Cys1488Arg)" "30"
"0000834375" "00001847" "70" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000834376" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000834377" "00001847" "70" "214" "0" "214" "0" "c.214G>A" "r.(?)" "p.(Gly72Arg)" "3"
"0000834378" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000834379" "00001847" "70" "52" "0" "52" "0" "c.52C>T" "r.(?)" "p.(Arg18Trp)" "1"
"0000834380" "00001847" "70" "1715" "0" "1715" "0" "c.1715G>A" "r.(?)" "p.(Arg572Gln)" "12"
"0000834381" "00001847" "70" "1588" "0" "1588" "0" "c.1588G>A" "r.(?)" "p.(Asp530Asn)" "12"
"0000834382" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000834383" "00001847" "90" "3468" "0" "3468" "0" "c.3468C>G" "r.(?)" "p.(Tyr1156*)" "23"
"0000834384" "00001847" "70" "5059" "0" "5059" "0" "c.5059A>T" "r.(?)" "p.(Ile1687Phe)" "36"
"0000834385" "00001847" "90" "3468" "0" "3468" "0" "c.3468C>G" "r.(?)" "p.(Tyr1156*)" "23"
"0000834386" "00001847" "70" "5059" "0" "5059" "0" "c.5059A>T" "r.(?)" "p.(Ile1687Phe)" "36"
"0000834387" "00001847" "90" "45" "0" "45" "0" "c.45G>A" "r.(?)" "p.(Trp15*)" "1"
"0000834388" "00001847" "70" "2401" "0" "2401" "0" "c.2401G>A" "r.(?)" "p.(Ala801Thr)" "16"
"0000834389" "00001847" "70" "2401" "0" "2401" "0" "c.2401G>A" "r.(?)" "p.(Ala801Thr)" "16"
"0000834390" "00001847" "90" "4234" "0" "4234" "0" "c.4234C>T" "r.(?)" "p.(Gln1412*)" "28"
"0000834391" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000834392" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000834393" "00001847" "70" "4347" "0" "4347" "0" "c.4347G>T" "r.(?)" "p.(Trp1449Cys)" "29"
"0000834394" "00001847" "90" "1555" "-1" "1937" "1" "c.(1554+1_1555-1)_(1937+1_1938-1)del" "r.?" "p.?" "11i_13i"
"0000834395" "00001847" "50" "2819" "0" "2819" "0" "c.2819C>G" "r.(?)" "p.(Pro940Arg)" "19"
"0000834396" "00001847" "50" "2819" "0" "2819" "0" "c.2819C>G" "r.(?)" "p.(Pro940Arg)" "19"
"0000834397" "00001847" "30" "5908" "0" "5908" "0" "c.5908C>T" "r.(?)" "p.(Leu1970Phe)" "43"
"0000834398" "00001847" "30" "5908" "0" "5908" "0" "c.5908C>T" "r.(?)" "p.(Leu1970Phe)" "43"
"0000834399" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000834400" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000834401" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000834402" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000834403" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000834404" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000834405" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000834406" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000834407" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000834408" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000834409" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000834410" "00001847" "70" "6529" "0" "6529" "0" "c.6529G>A" "r.(?)" "p.(Asp2177Asn)" "48"
"0000834411" "00001847" "70" "6529" "0" "6529" "0" "c.6529G>A" "r.(?)" "p.(Asp2177Asn)" "48"
"0000834412" "00001847" "70" "6529" "0" "6529" "0" "c.6529G>A" "r.(?)" "p.(Asp2177Asn)" "48"
"0000834413" "00001847" "70" "6529" "0" "6529" "0" "c.6529G>A" "r.(?)" "p.(Asp2177Asn)" "48"
"0000834414" "00001847" "70" "6529" "0" "6529" "0" "c.6529G>A" "r.(?)" "p.(Asp2177Asn)" "48"
"0000834415" "00001847" "70" "6529" "0" "6529" "0" "c.6529G>A" "r.(?)" "p.(Asp2177Asn)" "48"
"0000834416" "00001847" "70" "6529" "0" "6529" "0" "c.6529G>A" "r.(?)" "p.(Asp2177Asn)" "48"
"0000834417" "00001847" "70" "6529" "0" "6529" "0" "c.6529G>A" "r.(?)" "p.(Asp2177Asn)" "48"
"0000834418" "00001847" "70" "6529" "0" "6529" "0" "c.6529G>A" "r.(?)" "p.(Asp2177Asn)" "48"
"0000834419" "00001847" "70" "6529" "0" "6529" "0" "c.6529G>A" "r.(?)" "p.(Asp2177Asn)" "48"
"0000834420" "00001847" "50" "4283" "0" "4283" "0" "c.4283C>T" "r.(?)" "p.(Thr1428Met)" "29"
"0000834421" "00001847" "30" "6249" "0" "6249" "0" "c.6249C>T" "r.(=)" "p.(=)" "45"
"0000834422" "00001847" "30" "4773" "48" "4773" "48" "c.4773+48C>T" "r.(=)" "p.(=)" "33i"
"0000834423" "00001847" "30" "4773" "48" "4773" "48" "c.4773+48C>T" "r.(=)" "p.(=)" "33i"
"0000834424" "00001847" "50" "1411" "0" "1411" "0" "c.1411G>A" "r.(?)" "p.(Glu471Lys)" "11"
"0000834425" "00001847" "50" "2819" "0" "2819" "0" "c.2819C>G" "r.(?)" "p.(Pro940Arg)" "19"
"0000834426" "00001847" "50" "4283" "0" "4283" "0" "c.4283C>T" "r.(?)" "p.(Thr1428Met)" "29"
"0000834427" "00001847" "70" "4549" "0" "4549" "0" "c.4549C>A" "r.(?)" "p.(Arg1517Ser)" "31"
"0000834428" "00001847" "50" "4685" "0" "4685" "0" "c.4685T>C" "r.(?)" "p.(Ile1562Thr)" "33"
"0000834429" "00001847" "70" "4732" "0" "4732" "0" "c.4732G>A" "r.(?)" "p.(Gly1578Arg)" "33"
"0000834430" "00001847" "90" "5196" "1" "5196" "1" "c.5196+1G>A" "r.spl?" "p.?" "36i"
"0000834431" "00001847" "70" "5693" "0" "5693" "0" "c.5693G>A" "r.(?)" "p.(Arg1898His)" "40"
"0000834432" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000834433" "00001847" "30" "5908" "0" "5908" "0" "c.5908C>T" "r.(?)" "p.(Leu1970Phe)" "43"
"0000834434" "00001847" "90" "6519" "0" "6529" "0" "c.6519_6529del" "r.(?)" "p.(Lys2175Alafs*3)" "48"
"0000834435" "00001847" "10" "6529" "0" "6529" "0" "c.6529G>A" "r.(?)" "p.(Asp2177Asn)" "48"
"0000834436" "00001847" "90" "6568" "0" "6568" "0" "c.6568del" "r.(?)" "p.(Gln2190Argfs*57)" "48"
"0000834437" "00001847" "90" "4859" "0" "4864" "0" "c.4859_4864delinsTCCT" "r.(?)" "p.(Asn1620Ilefs*25)" "35"
"0000834438" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000834439" "00001847" "90" "3261" "0" "3261" "0" "c.3261A>C" "r.(?)" "p.(Glu1087Asp)" "22"
"0000834440" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000834441" "00001847" "90" "3752" "0" "3752" "0" "c.3752del" "r.(?)" "p.(Glu1251Glyfs*24)" "25"
"0000834442" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000834443" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000834444" "00001847" "70" "4462" "0" "4462" "0" "c.4462T>C" "r.(?)" "p.(Cys1488Arg)" "30"
"0000834445" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>C" "r.(?)" "p.(Gly1961Ala)" "42"
"0000834446" "00001847" "50" "1928" "0" "1928" "0" "c.1928T>G" "r.(?)" "p.(Val643Gly)" "13"
"0000834447" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000834448" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000834449" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.?" "38i"
"0000834450" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000834451" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000834452" "00001847" "90" "4773" "3" "4773" "3" "c.4773+3A>G" "r.spl?" "p.?" "33i"
"0000834453" "00001847" "90" "1957" "0" "1957" "0" "c.1957C>T" "r.(?)" "p.(Arg653Cys)" "14"
"0000834454" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000834455" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000834456" "00001847" "50" "1928" "0" "1928" "0" "c.1928T>G" "r.(?)" "p.(Val643Gly)" "13"
"0000834457" "00001847" "90" "4234" "0" "4234" "0" "c.4234C>T" "r.(?)" "p.(Gln1412*)" "28"
"0000834458" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000834459" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000834460" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000834461" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000834462" "00001847" "70" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000834463" "00001847" "70" "4556" "0" "4556" "0" "c.4556C>G" "r.(?)" "p.(Thr1519Arg)" "31"
"0000834464" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.(Gly863Ala)" "17"
"0000834465" "00001847" "70" "4556" "0" "4556" "0" "c.4556C>G" "r.(?)" "p.(Thr1519Arg)" "31"
"0000834466" "00001847" "50" "6148" "0" "6148" "0" "c.6148G>C" "r.(?)" "p.(Val2050Leu)" "45"
"0000834467" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.(Gly863Ala)" "17"
"0000834468" "00001847" "90" "4234" "0" "4234" "0" "c.4234C>T" "r.(?)" "p.(Gln1412*)" "28"
"0000834469" "00001847" "50" "1099" "3" "1099" "3" "c.1099+3A>C" "r.spl?" "p.?" "8i"
"0000834470" "00001847" "50" "5338" "0" "5338" "0" "c.5338C>G" "r.(?)" "p.(Pro1780Ala)" "38"
"0000834471" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.(Gly863Ala)" "17"
"0000834472" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.(Gly863Ala)" "17"
"0000834473" "00001847" "70" "2800" "0" "2803" "0" "c.2800_2803delinsT" "r.(?)" "p.(Val935del)" "19"
"0000834474" "00001847" "50" "1100" "-5" "1100" "-5" "c.1100-5G>A" "r.spl?" "p.?" "8i"
"0000834475" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000834476" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl?" "p.?" "40i"
"0000834477" "00001847" "70" "4532" "0" "4532" "0" "c.4532C>A" "r.(?)" "p.(Pro1511His)" "30"
"0000834478" "00001847" "90" "4916" "0" "4916" "0" "c.4916T>G" "r.(?)" "p.(Leu1639*)" "35"
"0000834479" "00001847" "70" "2413" "0" "2413" "0" "c.2413G>A" "r.(?)" "p.(Gly805Ser)" "16"
"0000834480" "00001847" "70" "6229" "0" "6229" "0" "c.6229C>T" "r.(?)" "p.(Arg2077Trp)" "45"
"0000834481" "00001847" "90" "1906" "0" "1906" "0" "c.1906C>T" "r.(?)" "p.(Gln636*)" "13"
"0000834482" "00001847" "70" "3304" "0" "3304" "0" "c.3304G>T" "r.(?)" "p.(Asp1102Tyr)" "22"
"0000834483" "00001847" "90" "4773" "1" "4773" "1" "c.4773+1G>T" "r.spl?" "p.?" "33i"
"0000834484" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl?" "p.?" "40i"
"0000834485" "00001847" "70" "4535" "0" "4535" "0" "c.4535C>T" "r.(?)" "p.(Pro1512Leu)" "30"
"0000834486" "00001847" "90" "1356" "1" "1356" "1" "c.1356+1G>T" "r.spl?" "p.?" "10i"
"0000834487" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000834488" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.?" "38i"
"0000834489" "00001847" "50" "2690" "0" "2690" "0" "c.2690C>T" "r.(?)" "p.(Thr897Ile)" "18"
"0000834490" "00001847" "70" "6176" "0" "6176" "0" "c.6176G>C" "r.(?)" "p.(Gly2059Ala)" "45"
"0000843779" "00001847" "50" "1099" "37" "1099" "37" "c.1099+37C>T" "r.(=)" "p.(=)" "8i"
"0000843781" "00001847" "50" "1099" "37" "1099" "37" "c.1099+37C>T" "r.(=)" "p.(=)" "8i"
"0000846496" "00001847" "70" "749" "0" "749" "0" "c.749delT" "r.(?)" "p.(Phe250fs)" ""
"0000846898" "00001847" "70" "3364" "0" "3364" "0" "c.3364G>A" "r.(?)" "p.(Glu1122Lys)" ""
"0000846933" "00001847" "70" "4773" "3" "4773" "3" "c.4773+3A>G" "r.spl?" "p.(?)" ""
"0000847143" "00001847" "70" "768" "1" "768" "1" "c.768+1G>A" "r.spl" "p.?" ""
"0000847144" "00001847" "50" "5460" "3" "5460" "3" "c.5460+3G>A" "r.spl?" "p.?" ""
"0000847145" "00001847" "70" "1876" "0" "1888" "0" "c.1876_1888del" "r.(?)" "p.(Ala626LeufsTer19)" ""
"0000847146" "00001847" "50" "1694" "0" "1694" "0" "c.1694C>A" "r.(?)" "p.(Pro565His)" ""
"0000847147" "00001847" "50" "1694" "0" "1694" "0" "c.1694C>A" "r.(?)" "p.(Pro565His)" ""
"0000847184" "00001847" "70" "6446" "0" "6446" "0" "c.6446G>C" "r.(?)" "p.(Arg2149Pro)" ""
"0000847185" "00001847" "70" "2522" "0" "2530" "0" "c.2522_2530del" "r.(?)" "p.(Gln841_Met843del)" ""
"0000847199" "00001847" "70" "3898" "0" "3898" "0" "c.3898del" "r.(?)" "p.(Arg1300Aspfs*89)" ""
"0000847200" "00001847" "50" "4773" "0" "4773" "0" "c.4773G>T" "r.(?)" "p.(Gly1591=)" ""
"0000847201" "00001847" "90" "3814" "-2" "3814" "-2" "c.3814-2A>T" "r.spl" "p.?" ""
"0000847202" "00001847" "70" "3608" "-1" "3608" "-1" "c.3608-1G>A" "r.spl" "p.?" ""
"0000847206" "00001847" "70" "689" "0" "689" "0" "c.689G>T" "r.(?)" "p.(Cys230Phe)" ""
"0000847207" "00001847" "70" "4313" "0" "4313" "0" "c.4313C>A" "r.(?)" "p.(Pro1438Gln)" ""
"0000847208" "00001847" "70" "18" "0" "19" "0" "c.18_19del" "r.(?)" "p.(Gln6HisfsTer47)" ""
"0000847209" "00001847" "70" "6401" "0" "6401" "0" "c.6401A>G" "r.(?)" "p.(Glu2134Gly)" ""
"0000847210" "00001847" "70" "2453" "0" "2453" "0" "c.2453G>C" "r.(?)" "p.(Gly818Ala)" ""
"0000847295" "00001847" "90" "6308" "0" "6308" "0" "c.6308C>A" "r.(?)" "p.(Pro2103His)" ""
"0000847296" "00001847" "90" "6299" "0" "6299" "0" "c.6299G>A" "r.(?)" "p.(Gly2100Glu)" ""
"0000847297" "00001847" "70" "4243" "0" "4243" "0" "c.4243dup" "r.(?)" "p.(Thr1415AsnfsTer7)" ""
"0000847298" "00001847" "50" "1201" "0" "1201" "0" "c.1201A>T" "r.(?)" "p.(Thr401Ser)" ""
"0000847299" "00001847" "90" "2741" "0" "2742" "0" "c.2741_2742del" "r.(?)" "p.(His914ArgfsTer5)" ""
"0000847300" "00001847" "90" "2807" "0" "2807" "0" "c.2807del" "r.(?)" "p.(Lys936ArgfsTer14)" ""
"0000847301" "00001847" "50" "2396" "0" "2396" "0" "c.2396C>T" "r.(?)" "p.(Pro799Leu)" ""
"0000847302" "00001847" "70" "2908" "0" "2908" "0" "c.2908del" "r.(?)" "p.(Thr970Profs*7)" ""
"0000848874" "00001847" "50" "5693" "0" "5693" "0" "c.5693G>A" "r.(?)" "p.(Arg1898His)" ""
"0000848876" "00001847" "30" "5197" "-605" "5197" "-605" "c.5197-605C>T" "r.(=)" "p.(=)" ""
"0000848877" "00001847" "70" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" ""
"0000848878" "00001847" "50" "4709" "0" "4709" "0" "c.4709C>T" "r.(?)" "p.(Pro1570Leu)" ""
"0000848879" "00001847" "50" "4535" "0" "4535" "0" "c.4535C>T" "r.(?)" "p.(Pro1512Leu)" ""
"0000848880" "00001847" "70" "2948" "0" "2948" "0" "c.2948C>T" "r.(?)" "p.(Thr983Ile)" ""
"0000848881" "00001847" "30" "2841" "0" "2841" "0" "c.2841C>T" "r.(?)" "p.(Asp947=)" ""
"0000848882" "00001847" "30" "2587" "3" "2587" "3" "c.2587+3A>G" "r.spl?" "p.?" ""
"0000848883" "00001847" "50" "2035" "0" "2035" "0" "c.2035G>A" "r.(?)" "p.(Glu679Lys)" ""
"0000848884" "00001847" "50" "1157" "0" "1157" "0" "c.1157C>T" "r.(?)" "p.(Ala386Val)" ""
"0000848885" "00001847" "30" "1155" "0" "1155" "0" "c.1155C>T" "r.(?)" "p.(Ile385=)" ""
"0000848886" "00001847" "90" "859" "-506" "859" "-506" "c.859-506G>C" "r.(=)" "p.(=)" ""
"0000848887" "00001847" "50" "656" "0" "656" "0" "c.656G>C" "r.(?)" "p.(Arg219Thr)" ""
"0000857632" "00001847" "50" "5413" "0" "5413" "0" "c.5413A>G" "r.(?)" "p.(Asn1805Asp)" ""
"0000857633" "00001847" "70" "4793" "0" "4793" "0" "c.4793C>A" "r.(?)" "p.(Ala1598Asp)" ""
"0000857634" "00001847" "90" "4706" "0" "4706" "0" "c.4706del" "r.(?)" "p.(Val1569Alafs*12)" ""
"0000857635" "00001847" "50" "4556" "0" "4556" "0" "c.4556C>T" "r.(?)" "p.(Thr1519Met)" ""
"0000857636" "00001847" "50" "4535" "0" "4535" "0" "c.4535C>T" "r.(?)" "p.(Pro1512Leu)" ""
"0000857637" "00001847" "50" "4297" "0" "4297" "0" "c.4297G>A" "r.(?)" "p.(Val1433Ile)" ""
"0000857638" "00001847" "50" "3586" "0" "3586" "0" "c.3586A>T" "r.(?)" "p.(Thr1196Ser)" ""
"0000857639" "00001847" "50" "3409" "0" "3409" "0" "c.3409A>G" "r.(?)" "p.(Arg1137Gly)" ""
"0000857640" "00001847" "50" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" ""
"0000857641" "00001847" "50" "1773" "0" "1773" "0" "c.1773T>A" "r.(?)" "p.(Ser591=)" ""
"0000857642" "00001847" "30" "769" "-605" "769" "-605" "c.769-605T>C" "r.(=)" "p.(=)" ""
"0000857643" "00001847" "10" "769" "-656" "769" "-656" "c.769-656T>C" "r.(=)" "p.(=)" ""
"0000857644" "00001847" "50" "581" "0" "581" "0" "c.581G>C" "r.(?)" "p.(Gly194Ala)" ""
"0000868876" "00001847" "70" "4720" "0" "4720" "0" "c.4720G>T" "r.(?)" "p.(Glu1574*)" "21i"
"0000869587" "00001847" "30" "1654" "0" "1654" "0" "c.1654G>A" "r.(?)" "p.(Val552Ile)" "12"
"0000869943" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(5882g>a)" "p.(Gly1961Glu)" "42"
"0000869944" "00001847" "90" "4793" "0" "4793" "0" "c.4793C>A" "r.(4793c>a)" "p.(Ala1598Asp)" "34"
"0000869945" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(5882g>a)" "p.(Gly1961Glu)" "42"
"0000869946" "00001847" "70" "6077" "0" "6077" "0" "c.6077del" "r.(?)" "p.(Leu2026Argfs*35)" "44"
"0000869947" "00001847" "50" "242" "0" "242" "0" "c.242G>C" "r.(?)" "p.(Cys81Ser)" ""
"0000869948" "00001847" "70" "6077" "0" "6077" "0" "c.6077del" "r.(6077del)" "p.(Leu2026Argfs*35)" "44"
"0000869949" "00001847" "70" "4793" "0" "4793" "0" "c.4793C>A" "r.(?)" "p.(Ala1598Asp)" "34"
"0000869950" "00001847" "90" "6077" "0" "6077" "0" "c.6077del" "r.(?)" "p.(Leu2026Argfs*35)" "44"
"0000869951" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000869952" "00001847" "90" "6077" "0" "6077" "0" "c.6077del" "r.(?)" "p.(Leu2026Argfs*35)" "44"
"0000869953" "00001847" "70" "4793" "0" "4793" "0" "c.4793C>A" "r.(?)" "p.(Ala1598Asp)" "34"
"0000869954" "00001847" "70" "6077" "0" "6077" "0" "c.6077del" "r.(?)" "p.(Leu2026Argfs*35)" "44"
"0000869955" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000869956" "00001847" "70" "4793" "0" "4793" "0" "c.4793C>A" "r.(?)" "p.(Ala1598Asp)" "34"
"0000869957" "00001847" "70" "4854" "0" "4854" "0" "c.4854G>C" "r.(?)" "p.(Trp1618Cys)" ""
"0000869958" "00001847" "70" "6077" "0" "6077" "0" "c.6077del" "r.(?)" "p.(Leu2026Argfs*35)" "44"
"0000869959" "00001847" "70" "4793" "0" "4793" "0" "c.4793C>A" "r.(?)" "p.(Ala1598Asp)" "34"
"0000869960" "00001847" "70" "6077" "0" "6077" "0" "c.6077del" "r.(?)" "p.(Leu2026Argfs*35)" "44"
"0000869961" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000869962" "00001847" "70" "6077" "0" "6077" "0" "c.6077del" "r.(?)" "p.(Leu2026Argfs*35)" "44"
"0000869983" "00001847" "70" "4854" "0" "4854" "0" "c.4854G>C" "r.(?)" "p.(Trp1618Cys)" ""
"0000869984" "00001847" "70" "4854" "0" "4854" "0" "c.4854G>C" "r.(?)" "p.(Trp1618Cys)" ""
"0000869985" "00001847" "70" "4793" "0" "4793" "0" "c.4793C>A" "r.(?)" "p.(Ala1598Asp)" ""
"0000873586" "00001847" "70" "4720" "0" "4720" "0" "c.4720G>T" "r.(?)" "p.(Glu1574*)" ""
"0000873587" "00001847" "70" "6289" "0" "6289" "0" "c.6289C>T" "r.(?)" "p.(Pro2097Ser)" ""
"0000878697" "00001847" "30" "2828" "0" "2828" "0" "c.2828G>A" "r.(?)" "p.(Arg943Gln)" ""
"0000878698" "00001847" "30" "2828" "0" "2828" "0" "c.2828G>A" "r.(?)" "p.(Arg943Gln)" ""
"0000878699" "00001847" "30" "2828" "0" "2828" "0" "c.2828G>A" "r.(?)" "p.(Arg943Gln)" ""
"0000878700" "00001847" "10" "4203" "0" "4203" "0" "c.4203C>A" "r.(?)" "p.(=)" ""
"0000878701" "00001847" "10" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000878702" "00001847" "10" "5682" "0" "5682" "0" "c.5682G>C" "r.(?)" "p.(=)" ""
"0000878703" "00001847" "30" "2828" "0" "2828" "0" "c.2828G>A" "r.(?)" "p.(Arg943Gln)" ""
"0000878704" "00001847" "10" "4203" "0" "4203" "0" "c.4203C>A" "r.(=)" "p.(=)" ""
"0000878705" "00001847" "10" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000878706" "00001847" "10" "5682" "0" "5682" "0" "c.5682G>C" "r.(=)" "p.(=)" ""
"0000878707" "00001847" "30" "2828" "0" "2828" "0" "c.2828G>A" "r.(?)" "p.(Arg943Gln)" ""
"0000878708" "00001847" "30" "2828" "0" "2828" "0" "c.2828G>A" "r.(?)" "p.(Arg943Gln)" ""
"0000878709" "00001847" "30" "2828" "0" "2828" "0" "c.2828G>A" "r.(?)" "p.(Arg943Gln)" ""
"0000878712" "00001847" "30" "2828" "0" "2828" "0" "c.2828G>A" "r.(?)" "p.(Arg943Gln)" ""
"0000878713" "00001847" "30" "2828" "0" "2828" "0" "c.2828G>A" "r.(?)" "p.(Arg943Gln)" ""
"0000878714" "00001847" "30" "2828" "0" "2828" "0" "c.2828G>A" "r.(?)" "p.(Arg943Gln)" ""
"0000878715" "00001847" "30" "2828" "0" "2828" "0" "c.2828G>A" "r.(?)" "p.(Arg943Gln)" ""
"0000878716" "00001847" "30" "2828" "0" "2828" "0" "c.2828G>A" "r.(?)" "p.(Arg943Gln)" ""
"0000878717" "00001847" "30" "2828" "0" "2828" "0" "c.2828G>A" "r.(?)" "p.(Arg943Gln)" ""
"0000878718" "00001847" "30" "2828" "0" "2828" "0" "c.2828G>A" "r.(?)" "p.(Arg943Gln)" ""
"0000878719" "00001847" "30" "2828" "0" "2828" "0" "c.2828G>A" "r.(?)" "p.(Arg943Gln)" ""
"0000878720" "00001847" "30" "2828" "0" "2828" "0" "c.2828G>A" "r.(?)" "p.(Arg943Gln)" ""
"0000878721" "00001847" "30" "2828" "0" "2828" "0" "c.2828G>A" "r.(?)" "p.(Arg943Gln)" ""
"0000878722" "00001847" "30" "2828" "0" "2828" "0" "c.2828G>A" "r.(?)" "p.(Arg943Gln)" ""
"0000878723" "00001847" "50" "2828" "0" "2828" "0" "c.2828G>A" "r.(?)" "p.(Arg943Gln)" ""
"0000881226" "00001847" "90" "868" "0" "868" "0" "c.868C>T" "r.(?)" "p.(Arg290Trp)" ""
"0000881349" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000881408" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000881409" "00001847" "70" "2992" "0" "2992" "0" "c.2992dup" "r.(?)" "p.(Leu998Profs*25)" ""
"0000881410" "00001847" "90" "834" "0" "834" "0" "c.834del" "r.(?)" "p.(Asp279Ilefs*21)" ""
"0000881411" "00001847" "90" "2813" "0" "2813" "0" "c.2813T>C" "r.(?)" "p.(Phe938Ser)" ""
"0000881412" "00001847" "90" "2041" "0" "2041" "0" "c.2041C>T" "r.(?)" "p.(Arg681*)" ""
"0000881450" "00001847" "90" "5715" "1" "5835" "1" "c.(5714-1_5715+1)_(5835+1_5836-1)del" "r.?" "p.?" "40i_41i"
"0000881451" "00001847" "90" "6119" "0" "6119" "0" "c.6119G>A" "r.(?)" "p.(Arg2040Gln)" ""
"0000881452" "00001847" "50" "2576" "0" "2576" "0" "c.2576A>G" "r.(?)" "p.(Gln859Arg)" ""
"0000883638" "00001847" "30" "6612" "0" "6612" "0" "c.6612C>T" "r.(?)" "p.(Asn2204=)" ""
"0000883639" "00001847" "50" "6454" "0" "6454" "0" "c.6454G>T" "r.(?)" "p.(Gly2152Cys)" ""
"0000883640" "00001847" "30" "6255" "0" "6255" "0" "c.6255C>T" "r.(?)" "p.(Leu2085=)" ""
"0000883641" "00001847" "90" "6155" "0" "6155" "0" "c.6155del" "r.(?)" "p.(Asn2052ThrfsTer9)" ""
"0000883642" "00001847" "50" "5729" "0" "5729" "0" "c.5729C>T" "r.(?)" "p.(Thr1910Ile)" ""
"0000883643" "00001847" "70" "5715" "-1" "5715" "-1" "c.5715-1G>C" "r.spl?" "p.?" ""
"0000883644" "00001847" "70" "5642" "0" "5642" "0" "c.5642C>T" "r.(?)" "p.(Ala1881Val)" ""
"0000883645" "00001847" "70" "5381" "0" "5381" "0" "c.5381C>A" "r.(?)" "p.(Ala1794Asp)" ""
"0000883646" "00001847" "90" "5318" "0" "5318" "0" "c.5318C>T" "r.(?)" "p.(Ala1773Val)" ""
"0000883647" "00001847" "10" "5197" "-519" "5197" "-519" "c.5197-519G>A" "r.(=)" "p.(=)" ""
"0000883648" "00001847" "10" "5197" "-541" "5197" "-541" "c.5197-541C>T" "r.(=)" "p.(=)" ""
"0000883649" "00001847" "10" "5196" "1015" "5196" "1015" "c.5196+1015A>G" "r.(=)" "p.(=)" ""
"0000883650" "00001847" "50" "4610" "0" "4610" "0" "c.4610C>T" "r.(?)" "p.(Thr1537Met)" ""
"0000883651" "00001847" "90" "3617" "0" "3617" "0" "c.3617del" "r.(?)" "p.(Asn1206MetfsTer3)" ""
"0000883652" "00001847" "50" "3422" "0" "3422" "0" "c.3422C>T" "r.(?)" "p.(Ser1141Leu)" ""
"0000883653" "00001847" "50" "3407" "0" "3407" "0" "c.3407G>A" "r.(?)" "p.(Gly1136Glu)" ""
"0000883654" "00001847" "70" "2971" "0" "2971" "0" "c.2971G>C" "r.(?)" "p.(Gly991Arg)" ""
"0000883656" "00001847" "50" "2791" "0" "2791" "0" "c.2791G>A" "r.(?)" "p.(Val931Met)" ""
"0000883657" "00001847" "10" "1927" "0" "1927" "0" "c.1927G>A" "r.(?)" "p.(Val643Met)" ""
"0000883658" "00001847" "50" "1817" "0" "1817" "0" "c.1817G>A" "r.(?)" "p.(Gly606Asp)" ""
"0000883659" "00001847" "50" "1715" "0" "1715" "0" "c.1715G>A" "r.(?)" "p.(Arg572Gln)" ""
"0000883660" "00001847" "50" "1208" "0" "1208" "0" "c.1208A>T" "r.(?)" "p.(Asp403Val)" ""
"0000883661" "00001847" "30" "1155" "0" "1155" "0" "c.1155C>T" "r.(?)" "p.(Ile385=)" ""
"0000883662" "00001847" "70" "1034" "0" "1034" "0" "c.1034A>G" "r.(?)" "p.(Tyr345Cys)" ""
"0000883663" "00001847" "90" "859" "-25" "859" "-25" "c.859-25A>G" "r.(=)" "p.(=)" ""
"0000883664" "00001847" "70" "783" "0" "783" "0" "c.783dup" "r.(?)" "p.(Asp262Argfs*18)" ""
"0000883665" "00001847" "50" "619" "0" "619" "0" "c.619G>A" "r.(?)" "p.(Glu207Lys)" ""
"0000896446" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" ""
"0000896447" "00001847" "70" "6113" "0" "6113" "0" "c.6113G>A" "r.(?)" "p.(Arg2038Gln)" ""
"0000896448" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" ""
"0000896449" "00001847" "70" "6722" "0" "6722" "0" "c.6722T>C" "r.(?)" "p.(Leu2241Pro)" ""
"0000896475" "00001847" "70" "3287" "0" "3287" "0" "c.3287C>T" "r.(?)" "p.(Ser1096Leu)" ""
"0000896476" "00001847" "70" "6190" "0" "6190" "0" "c.6190G>A" "r.(?)" "p.(Ala2064Thr)" ""
"0000896495" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" ""
"0000896496" "00001847" "70" "5645" "0" "5645" "0" "c.5645T>C" "r.(?)" "p.(Met1882Thr)" ""
"0000896497" "00001847" "50" "5761" "0" "5761" "0" "c.5761G>A" "r.(?)" "p.(Val1921Met)" ""
"0000896498" "00001847" "90" "6118" "0" "6118" "0" "c.6118C>T" "r.(?)" "p.(Arg2040Ter)" ""
"0000896508" "00001847" "70" "101" "0" "106" "0" "c.101_106delCTTTAT" "r.(?)" "p.(Ser34_Leu35del)" ""
"0000896509" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" ""
"0000896510" "00001847" "50" "5761" "0" "5761" "0" "c.5761G>A" "r.(?)" "p.(Val1921Met)" ""
"0000896515" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" ""
"0000896516" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" ""
"0000896536" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" ""
"0000896537" "00001847" "70" "4519" "0" "4519" "0" "c.4519G>A" "r.(?)" "p.(Gly1507Arg)" ""
"0000896542" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" ""
"0000896543" "00001847" "70" "3352" "0" "3352" "0" "c.3352C>T" "r.(?)" "p.(His1118Tyr)" ""
"0000896549" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" ""
"0000896550" "00001847" "70" "4555" "0" "4555" "0" "c.4555delA" "r.(?)" "p.(Thr1519ArgfsTer7)" ""
"0000896556" "00001847" "70" "6112" "0" "6112" "0" "c.6112C>T" "r.(?)" "p.(Arg2038Trp)" ""
"0000896557" "00001847" "70" "4505" "0" "4505" "0" "c.4505G>A" "r.(?)" "p.(Cys1502Tyr)" ""
"0000896558" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" ""
"0000896559" "00001847" "70" "71" "0" "71" "0" "c.71G>A" "r.(?)" "p.(Arg24His)" ""
"0000896560" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" ""
"0000896561" "00001847" "70" "101" "0" "106" "0" "c.101_106delCTTTAT" "r.(?)" "p.(Ser34_Leu35del)" ""
"0000896566" "00001847" "70" "3274" "0" "3274" "0" "c.3274G>T" "r.(?)" "p.(Val1092Leu)" ""
"0000896574" "00001847" "70" "5501" "0" "5501" "0" "c.5501T>C" "r.(?)" "p.(Ile1834Thr)" ""
"0000896575" "00001847" "70" "6113" "0" "6113" "0" "c.6113G>A" "r.(?)" "p.(Arg2038Gln)" ""
"0000896586" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" ""
"0000896587" "00001847" "90" "858" "2" "858" "2" "c.858+2T>A" "r.spl" "p.?" ""
"0000896603" "00001847" "90" "1561" "0" "1561" "0" "c.1561delG" "r.(?)" "p.(Val521SerfsTer47)" ""
"0000896604" "00001847" "70" "3004" "0" "3004" "0" "c.3004C>T" "r.(?)" "p.(Arg1002Trp)" ""
"0000896612" "00001847" "70" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" ""
"0000896613" "00001847" "70" "1531" "0" "1531" "0" "c.1531C>T" "r.(?)" "p.(Arg511Cys)" ""
"0000896625" "00001847" "90" "6146" "0" "6146" "0" "c.6146delA" "r.(?)" "p.(Lys2049ArgfsTer12)" ""
"0000896626" "00001847" "90" "2424" "0" "2424" "0" "c.2424C>G" "r.(?)" "p.(Tyr808Ter)" ""
"0000896634" "00001847" "90" "6479" "1" "6479" "1" "c.6479+1G>C" "r.spl" "p.?" ""
"0000896643" "00001847" "70" "6127" "0" "6127" "0" "c.6127C>T" "r.(?)" "p.(Pro2043Ser)" ""
"0000896644" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" ""
"0000896647" "00001847" "90" "6816" "1" "6816" "1" "c.6816+1G>A" "r.spl" "p.?" ""
"0000896648" "00001847" "90" "400" "0" "400" "0" "c.400C>T" "r.(?)" "p.(Gln134Ter)" ""
"0000896656" "00001847" "90" "4846" "0" "4847" "0" "c.4846_4847insT" "r.(?)" "p.(Lys1616IlefsTer5)" ""
"0000896657" "00001847" "50" "3329" "-3" "3329" "-3" "c.3329-3C>G" "r.spl?" "p.?" ""
"0000896671" "00001847" "70" "6119" "0" "6119" "0" "c.6119G>A" "r.(?)" "p.(Arg2040Gln)" ""
"0000896672" "00001847" "70" "4555" "0" "4555" "0" "c.4555delA" "r.(?)" "p.(Thr1519ArgfsTer7)" ""
"0000896692" "00001847" "70" "5761" "0" "5761" "0" "c.5761G>A" "r.(?)" "p.(Val1921Met)" ""
"0000896693" "00001847" "70" "101" "0" "106" "0" "c.101_106delCTTTAT" "r.(?)" "p.(Ser34_Leu35del)" ""
"0000896694" "00001847" "70" "4070" "0" "4070" "0" "c.4070C>A" "r.(?)" "p.(Ala1357Glu)" ""
"0000896695" "00001847" "70" "4519" "0" "4519" "0" "c.4519G>A" "r.(?)" "p.(Gly1507Arg)" ""
"0000896702" "00001847" "70" "3304" "0" "3304" "0" "c.3304G>T" "r.(?)" "p.(Asp1102Tyr)" ""
"0000896703" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" ""
"0000896708" "00001847" "70" "2827" "0" "2827" "0" "c.2827C>T" "r.(?)" "p.(Arg943Trp)" ""
"0000896709" "00001847" "50" "6498" "0" "6498" "0" "c.6498C>G" "r.(?)" "p.(Ile2166Met)" ""
"0000899447" "00001847" "90" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" ""
"0000899448" "00001847" "90" "1680" "0" "1680" "0" "c.1680del" "r.(?)" "p.(Ser561AlafsTer7)" ""
"0000899449" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" ""
"0000899450" "00001847" "90" "1531" "0" "1531" "0" "c.1531C>T" "r.(?)" "p.(Arg511Cys)" ""
"0000899451" "00001847" "90" "3482" "0" "3482" "0" "c.3482G>A" "r.(?)" "p.(Arg1161His)" ""
"0000899452" "00001847" "90" "2424" "0" "2424" "0" "c.2424C>G" "r.(?)" "p.(Tyr808Ter)" ""
"0000899453" "00001847" "90" "4948" "0" "4948" "0" "c.4948G>T" "r.(?)" "p.(Glu1650Ter)" ""
"0000899454" "00001847" "90" "4203" "0" "4203" "0" "c.4203del" "r.(?)" "p.(Ala1402LeufsTer2)" ""
"0000899455" "00001847" "90" "2424" "0" "2424" "0" "c.2424C>G" "r.(?)" "p.(Tyr808Ter)" ""
"0000899456" "00001847" "90" "1937" "5" "1937" "5" "c.1937+5G>A" "r.spl" "p.[(Tyr603_Ser646del,Arg587_645Aspdel)]" ""
"0000899457" "00001847" "90" "1522" "0" "1522" "0" "c.1522C>T" "r.(?)" "p.(Arg508Cys)" ""
"0000899459" "00001847" "90" "101" "0" "106" "0" "c.101_106del" "r.(?)" "p.(Ser34_Leu35del)" ""
"0000899460" "00001847" "90" "1229" "0" "1229" "0" "c.1229T>C" "r.(?)" "p.(Ile410Thr)" ""
"0000899461" "00001847" "90" "2424" "0" "2424" "0" "c.2424C>G" "r.(?)" "p.(Tyr808Ter)" ""
"0000899462" "00001847" "90" "1561" "0" "1561" "0" "c.1561del" "r.(?)" "p.(Val521SerfsTer47)" ""
"0000899463" "00001847" "90" "5318" "0" "5318" "0" "c.5318C>T" "r.(?)" "p.(Ala1773Val)" ""
"0000899464" "00001847" "90" "3364" "0" "3364" "0" "c.3364G>A" "r.(?)" "p.(Glu1122Lys)" ""
"0000899465" "00001847" "90" "5095" "0" "5095" "0" "c.5095del" "r.(?)" "p.(Leu1699PhefsTer3)" ""
"0000899466" "00001847" "90" "4667" "1" "4667" "1" "c.4667+1G>T" "r.spl" "p.?" ""
"0000899467" "00001847" "90" "1561" "0" "1561" "0" "c.1561del" "r.(?)" "p.(Val521SerfsTer47)" ""
"0000899468" "00001847" "90" "3281" "0" "3281" "0" "c.3281del" "r.(?)" "p.(Pro1094LeufsTer12)" ""
"0000899469" "00001847" "90" "2055" "0" "2055" "0" "c.2055del" "r.(?)" "p.(Leu686Ter)" ""
"0000899470" "00001847" "90" "2587" "0" "2587" "7" "c.2587_2587+7del" "r.spl" "p.?" ""
"0000899471" "00001847" "90" "67" "-16" "67" "-16" "c.67-16T>A" "r.spl" "p.(Ile23AlafsTer24)" ""
"0000899473" "00001847" "90" "3813" "1" "3813" "1" "c.3813+1G>A" "r.spl" "p.?" ""
"0000899474" "00001847" "70" "959" "0" "959" "0" "c.959C>G" "r.(?)" "p.(Ser320Cys)" ""
"0000899476" "00001847" "90" "101" "0" "106" "0" "c.101_106del" "r.(?)" "p.(Ser34_Leu35del)" ""
"0000899477" "00001847" "90" "872" "0" "872" "0" "c.872C>T" "r.(?)" "p.(Pro291Leu)" ""
"0000899478" "00001847" "90" "71" "0" "71" "0" "c.71G>A" "r.(?)" "p.(Arg24His)" ""
"0000899479" "00001847" "90" "164" "0" "164" "0" "c.164A>G" "r.(?)" "p.(His55Arg)" ""
"0000899480" "00001847" "90" "101" "0" "106" "0" "c.101_106del" "r.(?)" "p.(Ser34_Leu35del)" ""
"0000899481" "00001847" "90" "4771" "0" "4771" "0" "c.4771G>A" "r.(?)" "p.(Gly1591Arg)" ""
"0000899482" "00001847" "90" "3476" "0" "3476" "0" "c.3476T>C" "r.(?)" "p.(Leu1159Ser)" ""
"0000899485" "00001847" "90" "553" "0" "553" "0" "c.553C>T" "r.(?)" "p.(Gln185Ter)" ""
"0000899487" "00001847" "90" "3420" "0" "3420" "0" "c.3420C>G" "r.(?)" "p.(Cys1140Trp)" ""
"0000899488" "00001847" "90" "858" "2" "858" "2" "c.858+2T>A" "r.spl" "p.?" ""
"0000899489" "00001847" "90" "4359" "0" "4359" "0" "c.4359C>A" "r.(?)" "p.(Tyr1453Ter)" ""
"0000899490" "00001847" "90" "1561" "0" "1561" "0" "c.1561del" "r.(?)" "p.(Val521SerfsTer47)" ""
"0000899492" "00001847" "90" "719" "0" "719" "0" "c.719T>G" "r.(?)" "p.(Ile240Arg)" ""
"0000899493" "00001847" "90" "6088" "0" "6088" "0" "c.6088C>T" "r.(?)" "p.(Arg2030Ter)" ""
"0000899494" "00001847" "90" "240" "0" "241" "0" "c.240_241del" "r.(?)" "p.(Cys81PhefsTer17)" ""
"0000899495" "00001847" "90" "4253" "4" "4253" "4" "c.4253+4C>T" "r.spl" "p.(Ile1377HisfsTer3)" ""
"0000899496" "00001847" "90" "3191" "-1" "3191" "-1" "c.3191-1G>T" "r.spl" "p.?" ""
"0000899497" "00001847" "90" "4919" "0" "4919" "0" "c.4919G>A" "r.(?)" "p.(Arg1640Gln)" ""
"0000899498" "00001847" "90" "2424" "0" "2424" "0" "c.2424C>G" "r.(?)" "p.(Tyr808Ter)" ""
"0000899499" "00001847" "90" "53" "0" "53" "0" "c.53G>C" "r.(?)" "p.(Arg18Pro)" ""
"0000899500" "00001847" "90" "1561" "0" "1561" "0" "c.1561del" "r.(?)" "p.(Val521SerfsTer47)" ""
"0000899501" "00001847" "90" "1778" "0" "1778" "0" "c.1778C>T" "r.(?)" "p.(Pro593Leu)" ""
"0000899502" "00001847" "90" "3323" "0" "3323" "0" "c.3323G>A" "r.(?)" "p.(Arg1108His)" ""
"0000899503" "00001847" "90" "2424" "0" "2424" "0" "c.2424C>G" "r.(?)" "p.(Tyr808Ter)" ""
"0000899504" "00001847" "70" "983" "0" "983" "0" "c.983A>T" "r.(?)" "p.(Glu328Val)" ""
"0000899505" "00001847" "90" "1561" "0" "1561" "0" "c.1561del" "r.(?)" "p.(Val521SerfsTer47)" ""
"0000899506" "00001847" "90" "1609" "0" "1609" "0" "c.1609C>T" "r.(?)" "p.(Arg537Cys)" ""
"0000899507" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" ""
"0000899508" "00001847" "90" "3420" "0" "3420" "0" "c.3420C>G" "r.(?)" "p.(Cys1140Trp)" ""
"0000899509" "00001847" "90" "2424" "0" "2424" "0" "c.2424C>G" "r.(?)" "p.(Tyr808Ter)" ""
"0000899510" "00001847" "90" "2424" "0" "2424" "0" "c.2424C>G" "r.(?)" "p.(Tyr808Ter)" ""
"0000899511" "00001847" "90" "1099" "1" "1099" "1" "c.1099+1G>A" "r.spl" "p.?" ""
"0000899512" "00001847" "90" "101" "0" "106" "0" "c.101_106del" "r.(?)" "p.(Ser34_Leu35del)" ""
"0000899513" "00001847" "90" "1561" "0" "1561" "0" "c.1561del" "r.(?)" "p.(Val521SerfsTer47)" ""
"0000899514" "00001847" "90" "101" "0" "106" "0" "c.101_106del" "r.(?)" "p.(Ser34_Leu35del)" ""
"0000899516" "00001847" "90" "164" "0" "164" "0" "c.164A>G" "r.(?)" "p.(His55Arg)" ""
"0000899517" "00001847" "70" "1531" "0" "1531" "0" "c.1531C>T" "r.(?)" "p.(Arg511Cys)" ""
"0000899518" "00001847" "90" "4253" "5" "4253" "5" "c.4253+5G>A" "r.spl" "p.(Ile1377HisfsTer3)" ""
"0000899519" "00001847" "70" "1933" "0" "1933" "0" "c.1933G>A" "r.(?)" "p.(Asp645Asn)" ""
"0000899520" "00001847" "90" "3420" "0" "3420" "0" "c.3420C>G" "r.(?)" "p.(Cys1140Trp)" ""
"0000899521" "00001847" "90" "2447" "0" "2447" "0" "c.2447G>T" "r.(?)" "p.(Gly816Val)" ""
"0000899522" "00001847" "90" "215" "0" "215" "0" "c.215G>T" "r.(?)" "p.(Gly72Val)" ""
"0000899523" "00001847" "90" "3364" "0" "3364" "0" "c.3364G>A" "r.(?)" "p.(Glu1122Lys)" ""
"0000899524" "00001847" "90" "2382" "0" "2382" "0" "c.2382G>C" "r.spl" "p.(His721_794Valdel)" ""
"0000899525" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" ""
"0000899526" "00001847" "90" "290" "0" "290" "0" "c.290A>G" "r.(?)" "p.(Tyr97Cys)" ""
"0000899527" "00001847" "90" "157" "0" "157" "0" "c.157G>T" "r.(?)" "p.(Glu53Ter)" ""
"0000899528" "00001847" "90" "1531" "0" "1531" "0" "c.1531C>T" "r.(?)" "p.(Arg511Cys)" ""
"0000899529" "00001847" "90" "6190" "0" "6190" "0" "c.6190G>A" "r.(?)" "p.(Ala2064Thr)" ""
"0000899530" "00001847" "90" "42" "0" "42" "0" "c.42C>A" "r.(?)" "p.(Asn14Lys)" ""
"0000899532" "00001847" "90" "652" "0" "652" "0" "c.652C>T" "r.(?)" "p.(Gln218Ter)" ""
"0000899533" "00001847" "90" "3056" "0" "3056" "0" "c.3056C>T" "r.(?)" "p.(Thr1019Met)" ""
"0000899534" "00001847" "90" "22" "0" "22" "0" "c.22C>T" "r.(?)" "p.(Gln8Ter)" ""
"0000899535" "00001847" "90" "1522" "0" "1522" "0" "c.1522C>T" "r.(?)" "p.(Arg508Cys)" ""
"0000899536" "00001847" "70" "983" "0" "983" "0" "c.983A>T" "r.(?)" "p.(Glu328Val)" ""
"0000899537" "00001847" "90" "53" "0" "53" "0" "c.53G>C" "r.(?)" "p.(Arg18Pro)" ""
"0000899538" "00001847" "90" "3525" "0" "3525" "0" "c.3525del" "r.(?)" "p.(Thr1176ProfsTer20)" ""
"0000899539" "00001847" "90" "3482" "0" "3482" "0" "c.3482G>A" "r.(?)" "p.(Arg1161His)" ""
"0000899541" "00001847" "90" "1034" "0" "1034" "0" "c.1034A>C" "r.(?)" "p.(Tyr345Ser)" ""
"0000899542" "00001847" "90" "1561" "0" "1561" "0" "c.1561del" "r.(?)" "p.(Val521SerfsTer47)" ""
"0000899543" "00001847" "90" "2261" "0" "2261" "0" "c.2261T>C" "r.(?)" "p.(Phe754Ser)" ""
"0000899544" "00001847" "90" "2424" "0" "2424" "0" "c.2424C>G" "r.(?)" "p.(Tyr808Ter)" ""
"0000899545" "00001847" "90" "5641" "0" "5643" "0" "c.5641_5643del" "r.(?)" "p.(Ala1881del)" ""
"0000899546" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" ""
"0000899547" "00001847" "90" "101" "0" "106" "0" "c.101_106del" "r.(?)" "p.(Ser34_Leu35del)" ""
"0000899548" "00001847" "90" "1561" "0" "1561" "0" "c.1561del" "r.(?)" "p.(Val521SerfsTer47)" ""
"0000899549" "00001847" "90" "571" "-2" "571" "-2" "c.571-2A>G" "r.spl" "p.?" ""
"0000899550" "00001847" "90" "1318" "0" "1318" "0" "c.1318del" "r.(?)" "p.(Tyr440ThrfsTer9)" ""
"0000899551" "00001847" "90" "1006" "0" "1006" "0" "c.1006del" "r.(?)" "p.(Ser336ProfsTer38)" ""
"0000899552" "00001847" "90" "2424" "0" "2424" "0" "c.2424C>G" "r.(?)" "p.(Tyr808Ter)" ""
"0000899553" "00001847" "90" "203" "0" "203" "0" "c.203C>T" "r.(?)" "p.(Pro68Leu)" ""
"0000899554" "00001847" "90" "4892" "0" "4892" "0" "c.4892T>C" "r.(?)" "p.(Leu1631Pro)" ""
"0000899555" "00001847" "90" "1034" "0" "1034" "0" "c.1034A>G" "r.(?)" "p.(Tyr345Cys)" ""
"0000899556" "00001847" "90" "3104" "0" "3104" "0" "c.3104del" "r.(?)" "p.(Gln1035ArgfsTer49)" ""
"0000899557" "00001847" "90" "53" "0" "53" "0" "c.53G>C" "r.(?)" "p.(Arg18Pro)" ""
"0000899558" "00001847" "90" "400" "0" "400" "0" "c.400C>T" "r.(?)" "p.(Gln134Ter)" ""
"0000899560" "00001847" "90" "601" "0" "618" "0" "c.601_618dup" "r.(?)" "p.(Lys201_Ser206dup)" ""
"0000899561" "00001847" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Ter)" ""
"0000899562" "00001847" "90" "2424" "0" "2424" "0" "c.2424C>G" "r.(?)" "p.(Tyr808Ter)" ""
"0000899563" "00001847" "90" "4352" "1" "4352" "1" "c.4352+1G>A" "r.spl" "p.?" ""
"0000899564" "00001847" "90" "6478" "0" "6478" "0" "c.6478A>T" "r.(?)" "p.(Lys2160Ter)" ""
"0000899565" "00001847" "90" "6122" "0" "6122" "0" "c.6122G>T" "r.(?)" "p.(Gly2041Val)" ""
"0000899566" "00001847" "90" "2923" "0" "2924" "0" "c.2923_2924insAACACAGGTCCA" "r.(?)" "p.(Ser974_Ile975insLysHisArgSer)" ""
"0000899567" "00001847" "90" "101" "0" "106" "0" "c.101_106del" "r.(?)" "p.(Ser34_Leu35del)" ""
"0000899568" "00001847" "90" "1597" "0" "1597" "0" "c.1597C>T" "r.(?)" "p.(Gln533Ter)" ""
"0000899569" "00001847" "90" "1160" "0" "1160" "0" "c.1160G>A" "r.(?)" "p.(Trp387Ter)" ""
"0000899570" "00001847" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Ter)" ""
"0000899571" "00001847" "90" "5318" "0" "5318" "0" "c.5318C>T" "r.(?)" "p.(Ala1773Val)" ""
"0000899572" "00001847" "90" "164" "0" "164" "0" "c.164A>G" "r.(?)" "p.(His55Arg)" ""
"0000899574" "00001847" "90" "1688" "0" "1688" "0" "c.1688T>G" "r.(?)" "p.(Leu563Arg)" ""
"0000899575" "00001847" "90" "4069" "0" "4069" "0" "c.4069G>A" "r.(?)" "p.(Ala1357Thr)" ""
"0000899576" "00001847" "90" "859" "-2" "859" "-2" "c.859-2A>G" "r.spl" "p.?" ""
"0000899577" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" ""
"0000899578" "00001847" "90" "740" "0" "740" "0" "c.740A>T" "r.(?)" "p.(Asn247Ile)" ""
"0000899579" "00001847" "90" "319" "0" "319" "0" "c.319C>T" "r.(?)" "p.(Arg107Ter)" ""
"0000899580" "00001847" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Ter)" ""
"0000899581" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" ""
"0000899582" "00001847" "90" "101" "0" "106" "0" "c.101_106del" "r.(?)" "p.(Ser34_Leu35del)" ""
"0000899583" "00001847" "90" "1239" "1" "1239" "1" "c.1239+1G>A" "r.spl" "p.?" ""
"0000899584" "00001847" "90" "4748" "0" "4748" "0" "c.4748T>C" "r.(?)" "p.(Leu1583Pro)" ""
"0000899585" "00001847" "90" "6050" "0" "6050" "0" "c.6050G>A" "r.(?)" "p.(Cys2017Tyr)" ""
"0000899586" "00001847" "90" "983" "0" "983" "0" "c.983A>T" "r.(?)" "p.(Glu328Val)" ""
"0000899587" "00001847" "90" "3420" "0" "3420" "0" "c.3420C>G" "r.(?)" "p.(Cys1140Trp)" ""
"0000899588" "00001847" "90" "517" "0" "517" "0" "c.517del" "r.(?)" "p.(Leu173CysfsTer9)" ""
"0000899589" "00001847" "90" "858" "2" "858" "2" "c.858+2T>A" "r.spl" "p.?" ""
"0000899590" "00001847" "90" "161" "0" "161" "0" "c.161G>T" "r.spl" "p.(Cys54SerfsTer14)" ""
"0000899591" "00001847" "90" "716" "0" "716" "0" "c.716G>A" "r.(?)" "p.(Trp239Ter)" ""
"0000899592" "00001847" "90" "6112" "0" "6112" "0" "c.6112C>T" "r.(?)" "p.(Arg2038Trp)" ""
"0000899593" "00001847" "90" "716" "0" "716" "0" "c.716G>A" "r.(?)" "p.(Trp239Ter)" ""
"0000899594" "00001847" "90" "2424" "0" "2424" "0" "c.2424C>G" "r.(?)" "p.(Tyr808Ter)" ""
"0000899595" "00001847" "90" "2438" "0" "2438" "0" "c.2438A>T" "r.(?)" "p.(Glu813Val)" ""
"0000899597" "00001847" "90" "3608" "-1" "3608" "-1" "c.3608-1G>C" "r.spl" "p.?" ""
"0000899599" "00001847" "70" "1933" "0" "1933" "0" "c.1933G>A" "r.(?)" "p.(Asp645Asn)" ""
"0000899600" "00001847" "90" "1561" "0" "1561" "0" "c.1561del" "r.(?)" "p.(Val521SerfsTer47)" ""
"0000899601" "00001847" "90" "4906" "0" "4908" "0" "c.4906_4908del" "r.(?)" "p.(Asn1636del)" ""
"0000899602" "00001847" "90" "3023" "0" "3024" "0" "c.3023_3024del" "r.(?)" "p.(Cys1008SerfsTer14)" ""
"0000899603" "00001847" "90" "3812" "0" "3812" "0" "c.3812del" "r.(?)" "p.(Glu1271GlyfsTer4)" ""
"0000899605" "00001847" "90" "2255" "0" "2255" "0" "c.2255G>T" "r.(?)" "p.(Ser752Ile)" ""
"0000899606" "00001847" "90" "1680" "0" "1680" "0" "c.1680del" "r.(?)" "p.(Ser561AlafsTer7)" ""
"0000899607" "00001847" "90" "2857" "0" "2877" "0" "c.2857_2877del" "r.(?)" "p.(Phe953_Thr959del)" ""
"0000899608" "00001847" "90" "2918" "5" "2918" "5" "c.2918+5G>A" "r.spl" "p.(Glu921ProfsTer3)" ""
"0000899610" "00001847" "90" "6088" "0" "6088" "0" "c.6088C>T" "r.(?)" "p.(Arg2030Ter)" ""
"0000899611" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" ""
"0000899613" "00001847" "90" "1714" "0" "1714" "0" "c.1714C>T" "r.(?)" "p.(Arg572Ter)" ""
"0000899615" "00001847" "90" "1819" "0" "1819" "0" "c.1819G>T" "r.(?)" "p.(Gly607Trp)" ""
"0000899616" "00001847" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Ter)" ""
"0000899617" "00001847" "90" "2382" "0" "2382" "0" "c.2382G>C" "r.spl" "p.(His721_794Valdel)" ""
"0000899618" "00001847" "90" "1561" "0" "1561" "0" "c.1561del" "r.(?)" "p.(Val521SerfsTer47)" ""
"0000899619" "00001847" "90" "101" "0" "106" "0" "c.101_106del" "r.(?)" "p.(Ser34_Leu35del)" ""
"0000899620" "00001847" "90" "6394" "0" "6394" "0" "c.6394G>T" "r.(?)" "p.(Glu2132Ter)" ""
"0000899621" "00001847" "90" "3420" "0" "3420" "0" "c.3420C>G" "r.(?)" "p.(Cys1140Trp)" ""
"0000899623" "00001847" "90" "1561" "0" "1561" "0" "c.1561del" "r.(?)" "p.(Val521SerfsTer47)" ""
"0000899624" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" ""
"0000899626" "00001847" "90" "1561" "0" "1561" "0" "c.1561del" "r.(?)" "p.(Val521SerfsTer47)" ""
"0000899627" "00001847" "70" "983" "0" "983" "0" "c.983A>T" "r.(?)" "p.(Glu328Val)" ""
"0000899628" "00001847" "90" "299" "0" "299" "0" "c.299C>T" "r.(?)" "p.(Ser100Phe)" ""
"0000899629" "00001847" "90" "3420" "0" "3420" "0" "c.3420C>G" "r.(?)" "p.(Cys1140Trp)" ""
"0000899630" "00001847" "70" "1099" "1" "1099" "1" "c.1099+1G>A" "r.spl" "p.?" ""
"0000899631" "00001847" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Ter)" ""
"0000899632" "00001847" "90" "3898" "0" "3898" "0" "c.3898C>T" "r.(?)" "p.(Arg1300Ter)" ""
"0000899633" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.[(=,Glu1863LeufsTer33)]" ""
"0000899634" "00001847" "90" "1937" "1" "1937" "1" "c.1937+1G>T" "r.spl" "p.?" ""
"0000899635" "00001847" "90" "4895" "0" "4895" "0" "c.4895A>T" "r.(?)" "p.(Asn1632Ile)" ""
"0000899636" "00001847" "70" "983" "0" "983" "0" "c.983A>T" "r.(?)" "p.(Glu328Val)" ""
"0000899637" "00001847" "90" "1648" "0" "1648" "0" "c.1648G>A" "r.(?)" "p.(Gly550Arg)" ""
"0000899639" "00001847" "90" "161" "0" "161" "0" "c.161G>T" "r.spl" "p.(Cys54SerfsTer14)" ""
"0000899640" "00001847" "90" "5196" "1" "5196" "1" "c.5196+1G>C" "r.spl" "p.?" ""
"0000899641" "00001847" "90" "2069" "0" "2069" "0" "c.2069del" "r.(?)" "p.(Gly690ValfsTer6)" ""
"0000899642" "00001847" "90" "1924" "0" "1924" "0" "c.1924T>A" "r.(?)" "p.(Phe642Ile)" ""
"0000899644" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" ""
"0000899646" "00001847" "90" "3468" "0" "3468" "0" "c.3468C>G" "r.(?)" "p.(Tyr1156Ter)" ""
"0000899647" "00001847" "90" "6479" "1" "6479" "1" "c.6479+1G>A" "r.spl" "p.?" ""
"0000899648" "00001847" "90" "101" "0" "106" "0" "c.101_106del" "r.(?)" "p.(Ser34_Leu35del)" ""
"0000899649" "00001847" "70" "983" "0" "983" "0" "c.983A>T" "r.(?)" "p.(Glu328Val)" ""
"0000899650" "00001847" "90" "2424" "0" "2424" "0" "c.2424C>G" "r.(?)" "p.(Tyr808Ter)" ""
"0000899651" "00001847" "90" "101" "0" "106" "0" "c.101_106del" "r.(?)" "p.(Ser34_Leu35del)" ""
"0000899653" "00001847" "90" "1006" "0" "1006" "0" "c.1006del" "r.(?)" "p.(Ser336ProfsTer38)" ""
"0000899655" "00001847" "90" "6088" "0" "6088" "0" "c.6088C>T" "r.(?)" "p.(Arg2030Ter)" ""
"0000899656" "00001847" "70" "83" "0" "83" "0" "c.83A>C" "r.(?)" "p.(Glu28Ala)" ""
"0000899657" "00001847" "90" "6050" "0" "6050" "0" "c.6050G>A" "r.(?)" "p.(Cys2017Tyr)" ""
"0000899658" "00001847" "90" "6006" "-1" "6006" "-1" "c.6006-1G>A" "r.spl" "p.?" ""
"0000899659" "00001847" "90" "53" "0" "53" "0" "c.53G>A" "r.(?)" "p.(Arg18Gln)" ""
"0000899661" "00001847" "90" "178" "0" "178" "0" "c.178G>A" "r.(?)" "p.(Ala60Thr)" ""
"0000899662" "00001847" "90" "3608" "-1" "3608" "-1" "c.3608-1G>C" "r.spl" "p.?" ""
"0000899663" "00001847" "90" "2424" "0" "2424" "0" "c.2424C>G" "r.(?)" "p.(Tyr808Ter)" ""
"0000899664" "00001847" "90" "4897" "0" "4906" "0" "c.4897_4906del" "r.(?)" "p.(Val1633ThrfsTer26)" ""
"0000899665" "00001847" "90" "1958" "0" "1958" "0" "c.1958G>A" "r.(?)" "p.(Arg653His)" ""
"0000899666" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" ""
"0000899667" "00001847" "90" "1957" "0" "1957" "0" "c.1957C>T" "r.(?)" "p.(Arg653Cys)" ""
"0000899668" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" ""
"0000899669" "00001847" "90" "1561" "0" "1561" "0" "c.1561del" "r.(?)" "p.(Val521SerfsTer47)" ""
"0000899670" "00001847" "90" "303" "-1" "303" "-1" "c.303-1G>A" "r.spl" "p.?" ""
"0000899673" "00001847" "90" "3055" "0" "3055" "0" "c.3055A>G" "r.(?)" "p.(Thr1019Ala)" ""
"0000899674" "00001847" "90" "53" "0" "53" "0" "c.53G>C" "r.(?)" "p.(Arg18Pro)" ""
"0000899676" "00001847" "90" "101" "0" "106" "0" "c.101_106del" "r.(?)" "p.(Ser34_Leu35del)" ""
"0000899677" "00001847" "90" "1561" "0" "1561" "0" "c.1561del" "r.(?)" "p.(Val521SerfsTer47)" ""
"0000899678" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>G" "r.(?)" "p.(Arg1108Gly)" ""
"0000899679" "00001847" "90" "1958" "0" "1958" "0" "c.1958G>A" "r.(?)" "p.(Arg653His)" ""
"0000899680" "00001847" "90" "5761" "0" "5761" "0" "c.5761G>A" "r.(?)" "p.(Val1921Met)" ""
"0000899681" "00001847" "90" "1761" "-2" "1761" "-2" "c.1761-2A>G" "r.spl" "p.?" ""
"0000899682" "00001847" "90" "872" "0" "872" "0" "c.872C>T" "r.(?)" "p.(Pro291Leu)" ""
"0000899683" "00001847" "70" "983" "0" "983" "0" "c.983A>T" "r.(?)" "p.(Glu328Val)" ""
"0000899684" "00001847" "90" "157" "0" "157" "0" "c.157G>T" "r.(?)" "p.(Glu53Ter)" ""
"0000899685" "00001847" "90" "161" "0" "161" "0" "c.161G>T" "r.spl" "p.(Cys54SerfsTer14)" ""
"0000899686" "00001847" "70" "983" "0" "983" "0" "c.983A>T" "r.(?)" "p.(Glu328Val)" ""
"0000899687" "00001847" "90" "101" "0" "106" "0" "c.101_106del" "r.(?)" "p.(Ser34_Leu35del)" ""
"0000899688" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" ""
"0000899689" "00001847" "90" "2063" "0" "2063" "0" "c.2063dup" "r.(?)" "p.(Asn688LysfsTer78)" ""
"0000899690" "00001847" "70" "983" "0" "983" "0" "c.983A>T" "r.(?)" "p.(Glu328Val)" ""
"0000899691" "00001847" "90" "868" "0" "868" "0" "c.868C>T" "r.(?)" "p.(Arg290Trp)" ""
"0000899692" "00001847" "90" "101" "0" "106" "0" "c.101_106del" "r.(?)" "p.(Ser34_Leu35del)" ""
"0000899693" "00001847" "90" "613" "0" "613" "0" "c.613T>A" "r.(?)" "p.(Cys205Ser)" ""
"0000899694" "00001847" "90" "6286" "0" "6286" "0" "c.6286G>A" "r.(?)" "p.(Glu2096Lys)" ""
"0000899695" "00001847" "90" "4537" "0" "4537" "0" "c.4537del" "r.(?)" "p.(Gln1513ArgfsTer13)" ""
"0000899696" "00001847" "90" "505" "0" "505" "0" "c.505A>T" "r.(?)" "p.(Lys169Ter)" ""
"0000899697" "00001847" "90" "517" "0" "517" "0" "c.517del" "r.(?)" "p.(Leu173CysfsTer9)" ""
"0000899698" "00001847" "90" "71" "0" "71" "0" "c.71G>A" "r.(?)" "p.(Arg24His)" ""
"0000899699" "00001847" "90" "5196" "1" "5196" "1" "c.5196+1G>A" "r.spl" "p.?" ""
"0000899700" "00001847" "90" "2438" "0" "2438" "0" "c.2438A>T" "r.(?)" "p.(Glu813Val)" ""
"0000899701" "00001847" "90" "6745" "0" "6745" "0" "c.6745G>C" "r.(?)" "p.(Ala2249Pro)" ""
"0000899702" "00001847" "90" "2587" "1" "2587" "1" "c.2587+1G>A" "r.spl" "p.?" ""
"0000899703" "00001847" "90" "3420" "0" "3420" "0" "c.3420C>G" "r.(?)" "p.(Cys1140Trp)" ""
"0000899704" "00001847" "90" "6667" "0" "6667" "0" "c.6667dup" "r.(?)" "p.(Leu2223ProfsTer28)" ""
"0000899705" "00001847" "90" "1318" "0" "1318" "0" "c.1318del" "r.(?)" "p.(Tyr440ThrfsTer9)" ""
"0000899706" "00001847" "90" "1933" "0" "1933" "0" "c.1933G>A" "r.(?)" "p.(Asp645Asn)" ""
"0000899707" "00001847" "90" "2424" "0" "2424" "0" "c.2424C>G" "r.(?)" "p.(Tyr808Ter)" ""
"0000899708" "00001847" "90" "1006" "0" "1006" "0" "c.1006del" "r.(?)" "p.(Ser336ProfsTer38)" ""
"0000899709" "00001847" "90" "1958" "0" "1958" "0" "c.1958G>A" "r.(?)" "p.(Arg653His)" ""
"0000899710" "00001847" "90" "971" "0" "971" "0" "c.971G>A" "r.(?)" "p.(Cys324Tyr)" ""
"0000899711" "00001847" "90" "2063" "0" "2063" "0" "c.2063dup" "r.(?)" "p.(Asn688LysfsTer78)" ""
"0000899712" "00001847" "90" "1561" "0" "1561" "0" "c.1561del" "r.(?)" "p.(Val521SerfsTer47)" ""
"0000899713" "00001847" "90" "1819" "0" "1819" "0" "c.1819G>A" "r.(?)" "p.(Gly607Arg)" ""
"0000899714" "00001847" "90" "1760" "2" "1760" "2" "c.1760+2T>G" "r.spl" "p.?" ""
"0000899715" "00001847" "90" "101" "0" "106" "0" "c.101_106del" "r.(?)" "p.(Ser34_Leu35del)" ""
"0000899716" "00001847" "90" "3329" "-3" "3329" "-3" "c.3329-3C>G" "r.spl" "p.[(Gly1110ValfsTer4,Gln1111AspfsTer7)]" ""
"0000899717" "00001847" "70" "1555" "0" "1555" "0" "c.1555T>C" "r.(?)" "p.(Cys519Arg)" ""
"0000899718" "00001847" "90" "1597" "0" "1597" "0" "c.1597C>T" "r.(?)" "p.(Gln533Ter)" ""
"0000899719" "00001847" "90" "1561" "0" "1561" "0" "c.1561del" "r.(?)" "p.(Val521SerfsTer47)" ""
"0000899720" "00001847" "90" "187" "0" "187" "0" "c.187T>C" "r.(?)" "p.(Ser63Pro)" ""
"0000899721" "00001847" "90" "3525" "0" "3525" "0" "c.3525del" "r.(?)" "p.?" ""
"0000899722" "00001847" "90" "2424" "0" "2424" "0" "c.2424C>G" "r.(?)" "p.(Tyr808Ter)" ""
"0000899723" "00001847" "90" "4773" "1" "4773" "1" "c.4773+1G>T" "r.spl" "p.?" ""
"0000899724" "00001847" "90" "53" "0" "53" "0" "c.53G>C" "r.(?)" "p.(Arg18Pro)" ""
"0000899725" "00001847" "90" "1561" "0" "1561" "0" "c.1561del" "r.(?)" "p.(Val521SerfsTer47)" ""
"0000899726" "00001847" "90" "1085" "0" "1085" "0" "c.1085dup" "r.(?)" "p.(Tyr362Ter)" ""
"0000899727" "00001847" "70" "983" "0" "983" "0" "c.983A>T" "r.(?)" "p.(Glu328Val)" ""
"0000899728" "00001847" "90" "4898" "0" "4917" "0" "c.4898_4917del" "r.(?)" "p.(Val1633AlafsTer6)" ""
"0000899729" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" ""
"0000899730" "00001847" "70" "517" "0" "517" "0" "c.517del" "r.(?)" "p.(Leu173CysfsTer9)" ""
"0000899731" "00001847" "90" "240" "0" "241" "0" "c.240_241del" "r.(?)" "p.(Cys81PhefsTer17)" ""
"0000899732" "00001847" "90" "2424" "0" "2424" "0" "c.2424C>G" "r.(?)" "p.(Tyr808Ter)" ""
"0000899734" "00001847" "90" "1561" "0" "1561" "0" "c.1561del" "r.(?)" "p.(Val521SerfsTer47)" ""
"0000899735" "00001847" "90" "3862" "1" "3862" "1" "c.3862+1G>A" "r.spl" "p.?" ""
"0000899736" "00001847" "90" "2424" "0" "2424" "0" "c.2424C>G" "r.(?)" "p.(Tyr808Ter)" ""
"0000899737" "00001847" "90" "4667" "1" "4667" "1" "c.4667+1G>T" "r.spl" "p.?" ""
"0000899738" "00001847" "90" "2424" "0" "2424" "0" "c.2424C>G" "r.(?)" "p.(Tyr808Ter)" ""
"0000899739" "00001847" "90" "3280" "0" "3280" "0" "c.3280C>A" "r.(?)" "p.(Pro1094Thr)" ""
"0000899740" "00001847" "90" "4610" "0" "4610" "0" "c.4610C>T" "r.(?)" "p.(Thr1537Met)" ""
"0000899741" "00001847" "90" "6480" "-1" "6480" "-1" "c.6480-1G>T" "r.spl" "p.?" ""
"0000899742" "00001847" "90" "3056" "0" "3056" "0" "c.3056C>T" "r.(?)" "p.(Thr1019Met)" ""
"0000899743" "00001847" "90" "5318" "0" "5318" "0" "c.5318C>T" "r.(?)" "p.(Ala1773Val)" ""
"0000899744" "00001847" "90" "6095" "0" "6095" "0" "c.6095A>G" "r.(?)" "p.(His2032Arg)" ""
"0000899745" "00001847" "90" "4773" "1" "4773" "1" "c.4773+1G>T" "r.spl" "p.?" ""
"0000899746" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" ""
"0000899747" "00001847" "90" "5761" "0" "5761" "0" "c.5761G>A" "r.(?)" "p.(Val1921Met)" ""
"0000899748" "00001847" "70" "983" "0" "983" "0" "c.983A>T" "r.(?)" "p.(Glu328Val)" ""
"0000899749" "00001847" "90" "1642" "0" "1642" "0" "c.1642T>C" "r.(?)" "p.(Trp548Arg)" ""
"0000899750" "00001847" "90" "3134" "0" "3135" "0" "c.3134_3135insA" "r.(?)" "p.(Met1045IlefsTer13)" ""
"0000899751" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" ""
"0000899752" "00001847" "90" "6289" "0" "6289" "0" "c.6289C>T" "r.(?)" "p.(Pro2097Ser)" ""
"0000899753" "00001847" "90" "6563" "0" "6563" "0" "c.6563T>C" "r.(?)" "p.(Phe2188Ser)" ""
"0000899754" "00001847" "90" "6563" "0" "6563" "0" "c.6563T>C" "r.(?)" "p.(Phe2188Ser)" ""
"0000899755" "00001847" "90" "6088" "0" "6088" "0" "c.6088C>T" "r.(?)" "p.(Arg2030Ter)" ""
"0000899756" "00001847" "90" "2424" "0" "2424" "0" "c.2424C>G" "r.(?)" "p.(Tyr808Ter)" ""
"0000899757" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000899758" "00001847" "90" "2424" "0" "2424" "0" "c.2424C>G" "r.(?)" "p.(Tyr808Ter)" ""
"0000899759" "00001847" "90" "6563" "0" "6563" "0" "c.6563T>C" "r.(?)" "p.(Phe2188Ser)" ""
"0000899760" "00001847" "90" "5318" "0" "5318" "0" "c.5318C>T" "r.(?)" "p.(Ala1773Val)" ""
"0000899761" "00001847" "90" "5646" "0" "5646" "0" "c.5646G>A" "r.(?)" "p.(Met1882Ile)" ""
"0000899762" "00001847" "70" "983" "0" "983" "0" "c.983A>T" "r.(?)" "p.(Glu328Val)" ""
"0000899764" "00001847" "70" "983" "0" "983" "0" "c.983A>T" "r.(?)" "p.(Glu328Val)" ""
"0000899765" "00001847" "90" "2424" "0" "2424" "0" "c.2424C>G" "r.(?)" "p.(Tyr808Ter)" ""
"0000899766" "00001847" "70" "1609" "0" "1609" "0" "c.1609C>T" "r.(?)" "p.(Arg537Cys)" ""
"0000899767" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" ""
"0000899768" "00001847" "90" "6563" "0" "6563" "0" "c.6563T>C" "r.(?)" "p.(Phe2188Ser)" ""
"0000899771" "00001847" "90" "6118" "0" "6118" "0" "c.6118C>T" "r.(?)" "p.(Arg2040Ter)" ""
"0000899773" "00001847" "90" "6563" "0" "6563" "0" "c.6563T>C" "r.(?)" "p.(Phe2188Ser)" ""
"0000899774" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.[(=,Glu1863LeufsTer33)]" ""
"0000899775" "00001847" "90" "6563" "0" "6563" "0" "c.6563T>C" "r.(?)" "p.(Phe2188Ser)" ""
"0000899776" "00001847" "90" "6283" "-3" "6283" "-3" "c.6283-3C>G" "r.spl" "p.[(=,Leu2094_Asp2095insLeuIleLeuHisArgHisAlaSerProGlyGlyArgSerAsnGlnLysGlyGlnLeuProAlaCysAlaProAsnLeuLeuSerThrProGln)]" ""
"0000899778" "00001847" "90" "3898" "0" "3898" "0" "c.3898C>T" "r.(?)" "p.(Arg1300Ter)" ""
"0000899779" "00001847" "90" "6563" "0" "6563" "0" "c.6563T>C" "r.(?)" "p.(Phe2188Ser)" ""
"0000899780" "00001847" "90" "3364" "0" "3364" "0" "c.3364G>A" "r.(?)" "p.(Glu1122Lys)" ""
"0000899781" "00001847" "90" "6118" "0" "6118" "0" "c.6118C>T" "r.(?)" "p.(Arg2040Ter)" ""
"0000899782" "00001847" "90" "6730" "-9" "6765" "0" "c.6730-9_6765dup" "r.spl" "p.?" ""
"0000899783" "00001847" "90" "6050" "0" "6050" "0" "c.6050G>A" "r.(?)" "p.(Cys2017Tyr)" ""
"0000899784" "00001847" "90" "6563" "0" "6563" "0" "c.6563T>C" "r.(?)" "p.(Phe2188Ser)" ""
"0000899785" "00001847" "90" "6563" "0" "6563" "0" "c.6563T>C" "r.(?)" "p.(Phe2188Ser)" ""
"0000899786" "00001847" "90" "5929" "0" "5929" "0" "c.5929G>A" "r.(?)" "p.(Gly1977Ser)" ""
"0000899787" "00001847" "90" "4956" "0" "4956" "0" "c.4956T>G" "r.(?)" "p.(Tyr1652Ter)" ""
"0000899788" "00001847" "90" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000899789" "00001847" "90" "6563" "0" "6563" "0" "c.6563T>C" "r.(?)" "p.(Phe2188Ser)" ""
"0000899790" "00001847" "90" "1819" "0" "1819" "0" "c.1819G>A" "r.(?)" "p.(Gly607Arg)" ""
"0000899791" "00001847" "90" "1597" "0" "1597" "0" "c.1597C>T" "r.(?)" "p.(Gln533Ter)" ""
"0000899792" "00001847" "90" "5881" "0" "5881" "0" "c.5881G>A" "r.(?)" "p.(Gly1961Arg)" ""
"0000899793" "00001847" "90" "5197" "-1" "5197" "-1" "c.5197-1G>A" "r.spl" "p.?" ""
"0000899794" "00001847" "90" "4532" "0" "4532" "0" "c.4532C>A" "r.(?)" "p.(Pro1511His)" ""
"0000899795" "00001847" "90" "6563" "0" "6563" "0" "c.6563T>C" "r.(?)" "p.(Phe2188Ser)" ""
"0000899796" "00001847" "90" "1819" "0" "1819" "0" "c.1819G>A" "r.(?)" "p.(Gly607Arg)" ""
"0000899797" "00001847" "90" "2424" "0" "2424" "0" "c.2424C>G" "r.(?)" "p.(Tyr808Ter)" ""
"0000899798" "00001847" "90" "3334" "0" "3346" "0" "c.3334_3346del" "r.(?)" "p.(Thr1112ProfsTer32)" ""
"0000899799" "00001847" "70" "3220" "0" "3220" "0" "c.3220A>C" "r.(?)" "p.(Ile1074Leu)" ""
"0000899801" "00001847" "90" "319" "0" "319" "0" "c.319C>T" "r.(?)" "p.(Arg107Ter)" ""
"0000899802" "00001847" "90" "1761" "-2" "1761" "-2" "c.1761-2A>G" "r.spl" "p.?" ""
"0000899803" "00001847" "90" "4383" "0" "4383" "0" "c.4383G>A" "r.(?)" "p.(Trp1461Ter)" ""
"0000899804" "00001847" "90" "6125" "0" "6125" "0" "c.6125T>G" "r.(?)" "p.(Val2042Gly)" ""
"0000899805" "00001847" "70" "6068" "0" "6068" "0" "c.6068T>C" "r.(?)" "p.(Ile2023Thr)" ""
"0000899806" "00001847" "90" "2918" "0" "2918" "0" "c.2918T>C" "r.(?)" "p.(Leu973Ser)" ""
"0000899807" "00001847" "90" "6118" "0" "6118" "0" "c.6118C>T" "r.(?)" "p.(Arg2040Ter)" ""
"0000899808" "00001847" "90" "6088" "0" "6088" "0" "c.6088C>T" "r.(?)" "p.(Arg2030Ter)" ""
"0000899809" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" ""
"0000899810" "00001847" "90" "6448" "0" "6448" "0" "c.6448T>C" "r.(?)" "p.(Cys2150Arg)" ""
"0000899811" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" ""
"0000899813" "00001847" "90" "1814" "0" "1814" "0" "c.1814G>A" "r.(?)" "p.(Trp605Ter)" ""
"0000899814" "00001847" "70" "4352" "1" "4352" "1" "c.4352+1G>A" "r.spl" "p.?" ""
"0000899815" "00001847" "90" "6816" "1" "6816" "1" "c.6816+1G>A" "r.spl" "p.?" ""
"0000899816" "00001847" "70" "1906" "0" "1906" "0" "c.1906C>A" "r.(?)" "p.(Gln636Lys)" ""
"0000899817" "00001847" "90" "3106" "0" "3106" "0" "c.3106G>A" "r.(?)" "p.(Glu1036Lys)" ""
"0000899818" "00001847" "90" "978" "0" "978" "0" "c.978C>G" "r.(?)" "p.(Tyr326Ter)" ""
"0000899819" "00001847" "90" "5172" "0" "5172" "0" "c.5172G>A" "r.(?)" "p.(Trp1724Ter)" ""
"0000899821" "00001847" "90" "1937" "1" "1937" "1" "c.1937+1G>A" "r.spl" "p.?" ""
"0000899822" "00001847" "90" "6232" "0" "6232" "0" "c.6232A>G" "r.(?)" "p.(Lys2078Glu)" ""
"0000899823" "00001847" "90" "4868" "0" "4868" "0" "c.4868G>T" "r.(?)" "p.(Gly1623Val)" ""
"0000899824" "00001847" "90" "5558" "0" "5569" "0" "c.5558_5569del" "r.(?)" "p.(Ala1853_Asp1856del)" ""
"0000899825" "00001847" "90" "5761" "0" "5761" "0" "c.5761G>A" "r.(?)" "p.(Val1921Met)" ""
"0000899826" "00001847" "90" "6816" "1" "6816" "1" "c.6816+1G>A" "r.spl" "p.?" ""
"0000899827" "00001847" "90" "1761" "-2" "1761" "-2" "c.1761-2A>G" "r.spl" "p.?" ""
"0000899828" "00001847" "90" "896" "0" "896" "0" "c.896del" "r.(?)" "p.(Val299GlyfsTer17)" ""
"0000899829" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000899830" "00001847" "90" "2424" "0" "2424" "0" "c.2424C>G" "r.(?)" "p.(Tyr808Ter)" ""
"0000899831" "00001847" "90" "3525" "0" "3525" "0" "c.3525del" "r.(?)" "p.?" ""
"0000899832" "00001847" "90" "4069" "0" "4069" "0" "c.4069G>A" "r.(?)" "p.(Ala1357Thr)" ""
"0000899833" "00001847" "90" "2063" "0" "2063" "0" "c.2063dup" "r.(?)" "p.(Asn688LysfsTer78)" ""
"0000899834" "00001847" "90" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" ""
"0000899835" "00001847" "90" "4845" "0" "4845" "0" "c.4845del" "r.(?)" "p.(Lys1616ArgfsTer46)" ""
"0000899836" "00001847" "90" "4220" "0" "4220" "0" "c.4220C>T" "r.(?)" "p.(Pro1407Leu)" ""
"0000899838" "00001847" "90" "2424" "0" "2424" "0" "c.2424C>G" "r.(?)" "p.(Tyr808Ter)" ""
"0000899839" "00001847" "90" "3476" "0" "3476" "0" "c.3476T>C" "r.(?)" "p.(Leu1159Ser)" ""
"0000899840" "00001847" "90" "5906" "0" "5906" "0" "c.5906G>A" "r.(?)" "p.(Gly1969Asp)" ""
"0000899841" "00001847" "90" "6286" "0" "6286" "0" "c.6286G>A" "r.(?)" "p.(Glu2096Lys)" ""
"0000899842" "00001847" "90" "4537" "0" "4537" "0" "c.4537dup" "r.(?)" "p.(Gln1513ProfsTer42)" ""
"0000899843" "00001847" "90" "6816" "1" "6816" "1" "c.6816+1G>A" "r.spl" "p.?" ""
"0000899844" "00001847" "90" "2424" "0" "2424" "0" "c.2424C>G" "r.(?)" "p.(Tyr808Ter)" ""
"0000899845" "00001847" "90" "1819" "0" "1819" "0" "c.1819G>A" "r.(?)" "p.(Gly607Arg)" ""
"0000899846" "00001847" "90" "6563" "0" "6563" "0" "c.6563T>C" "r.(?)" "p.(Phe2188Ser)" ""
"0000899847" "00001847" "90" "5360" "0" "5380" "0" "c.5360_5380del" "r.(?)" "p.(Val1787_Val1793del)" ""
"0000899848" "00001847" "90" "3056" "0" "3056" "0" "c.3056C>T" "r.(?)" "p.(Thr1019Met)" ""
"0000899849" "00001847" "90" "4352" "1" "4352" "1" "c.4352+1del" "r.spl" "p.?" ""
"0000899850" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.[(=,Glu1863LeufsTer33)]" ""
"0000899851" "00001847" "90" "3104" "0" "3104" "0" "c.3104del" "r.(?)" "p.(Gln1035ArgfsTer49)" ""
"0000899852" "00001847" "90" "3106" "0" "3106" "0" "c.3106G>A" "r.(?)" "p.(Glu1036Lys)" ""
"0000899853" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" ""
"0000899854" "00001847" "90" "6563" "0" "6563" "0" "c.6563T>C" "r.(?)" "p.(Phe2188Ser)" ""
"0000899855" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" ""
"0000899856" "00001847" "90" "6563" "0" "6563" "0" "c.6563T>C" "r.(?)" "p.(Phe2188Ser)" ""
"0000899857" "00001847" "90" "6389" "0" "6389" "0" "c.6389T>A" "r.(?)" "p.(Met2130Lys)" ""
"0000899858" "00001847" "90" "6289" "0" "6289" "0" "c.6289C>T" "r.(?)" "p.(Pro2097Ser)" ""
"0000899859" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" ""
"0000899860" "00001847" "90" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" ""
"0000899861" "00001847" "90" "983" "0" "983" "0" "c.983A>T" "r.(?)" "p.(Glu328Val)" ""
"0000899862" "00001847" "90" "3898" "0" "3898" "0" "c.3898C>T" "r.(?)" "p.(Arg1300Ter)" ""
"0000899863" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" ""
"0000899864" "00001847" "90" "3364" "0" "3364" "0" "c.3364G>A" "r.(?)" "p.(Glu1122Lys)" ""
"0000899865" "00001847" "90" "2568" "0" "2568" "0" "c.2568C>A" "r.(?)" "p.(Tyr856Ter)" ""
"0000899866" "00001847" "90" "6563" "0" "6563" "0" "c.6563T>C" "r.(?)" "p.(Phe2188Ser)" ""
"0000899868" "00001847" "90" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" ""
"0000899870" "00001847" "90" "3476" "0" "3476" "0" "c.3476T>C" "r.(?)" "p.(Leu1159Ser)" ""
"0000899871" "00001847" "90" "6282" "1" "6282" "1" "c.6282+1G>C" "r.spl" "p.?" ""
"0000899872" "00001847" "90" "6289" "0" "6289" "0" "c.6289C>T" "r.(?)" "p.(Pro2097Ser)" ""
"0000899873" "00001847" "90" "5318" "0" "5318" "0" "c.5318C>T" "r.(?)" "p.(Ala1773Val)" ""
"0000899874" "00001847" "90" "5646" "0" "5646" "0" "c.5646G>A" "r.(?)" "p.(Met1882Ile)" ""
"0000899876" "00001847" "90" "6289" "0" "6289" "0" "c.6289C>T" "r.(?)" "p.(Pro2097Ser)" ""
"0000899877" "00001847" "90" "3847" "0" "3847" "0" "c.3847G>T" "r.(?)" "p.(Gly1283Ter)" ""
"0000899878" "00001847" "90" "5318" "0" "5318" "0" "c.5318C>T" "r.(?)" "p.(Ala1773Val)" ""
"0000899879" "00001847" "90" "5366" "0" "5366" "0" "c.5366G>A" "r.(?)" "p.(Ser1789Asn)" ""
"0000899881" "00001847" "90" "6437" "0" "6437" "0" "c.6437G>A" "r.(?)" "p.(Gly2146Asp)" ""
"0000899882" "00001847" "90" "3420" "0" "3420" "0" "c.3420C>G" "r.(?)" "p.(Cys1140Trp)" ""
"0000899884" "00001847" "90" "3482" "0" "3482" "0" "c.3482G>A" "r.(?)" "p.(Arg1161His)" ""
"0000899885" "00001847" "90" "3044" "0" "3044" "0" "c.3044T>C" "r.(?)" "p.(Phe1015Ser)" ""
"0000899886" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" ""
"0000899887" "00001847" "90" "6560" "0" "6561" "0" "c.6560_6561insCTGA" "r.(?)" "p.(Gln2187HisfsTer2)" ""
"0000899888" "00001847" "90" "5196" "1" "5196" "1" "c.5196+1G>A" "r.spl" "p.?" ""
"0000899889" "00001847" "90" "6050" "0" "6050" "0" "c.6050G>A" "r.(?)" "p.(Cys2017Tyr)" ""
"0000899890" "00001847" "90" "6563" "0" "6563" "0" "c.6563T>C" "r.(?)" "p.(Phe2188Ser)" ""
"0000899891" "00001847" "90" "3871" "0" "3871" "0" "c.3871C>T" "r.(?)" "p.(Gln1291Ter)" ""
"0000899893" "00001847" "90" "3468" "0" "3468" "0" "c.3468C>G" "r.(?)" "p.(Tyr1156Ter)" ""
"0000899894" "00001847" "90" "3190" "1" "3190" "1" "c.3190+1G>C" "r.spl" "p.?" ""
"0000899896" "00001847" "90" "2424" "0" "2424" "0" "c.2424C>G" "r.(?)" "p.(Tyr808Ter)" ""
"0000899897" "00001847" "90" "6563" "0" "6563" "0" "c.6563T>C" "r.(?)" "p.(Phe2188Ser)" ""
"0000899898" "00001847" "90" "2923" "0" "2924" "0" "c.2923_2924insAACACAGGTCCA" "r.(?)" "p.(Ser974_Ile975insLysHisArgSer)" ""
"0000899899" "00001847" "90" "3608" "-1" "3608" "-1" "c.3608-1G>C" "r.spl" "p.?" ""
"0000899900" "00001847" "90" "5408" "0" "5408" "0" "c.5408G>A" "r.(?)" "p.(Gly1803Asp)" ""
"0000899901" "00001847" "90" "6563" "0" "6563" "0" "c.6563T>C" "r.(?)" "p.(Phe2188Ser)" ""
"0000899902" "00001847" "90" "6563" "0" "6563" "0" "c.6563T>C" "r.(?)" "p.(Phe2188Ser)" ""
"0000899903" "00001847" "90" "5981" "0" "5981" "0" "c.5981G>A" "r.(?)" "p.(Gly1994Glu)" ""
"0000899904" "00001847" "90" "5002" "0" "5002" "0" "c.5002C>G" "r.(?)" "p.(Leu1668Val)" ""
"0000899905" "00001847" "90" "6563" "0" "6563" "0" "c.6563T>C" "r.(?)" "p.(Phe2188Ser)" ""
"0000899906" "00001847" "90" "2438" "0" "2438" "0" "c.2438A>T" "r.(?)" "p.(Glu813Val)" ""
"0000899907" "00001847" "90" "6563" "0" "6563" "0" "c.6563T>C" "r.(?)" "p.(Phe2188Ser)" ""
"0000899909" "00001847" "90" "2654" "-9" "2654" "-9" "c.2654-9T>C" "r.spl" "p.Gly885AlafsTer50,=" ""
"0000899910" "00001847" "90" "5777" "0" "5777" "0" "c.5777A>C" "r.(?)" "p.(Gln1926Pro)" ""
"0000899911" "00001847" "90" "6282" "1" "6282" "1" "c.6282+1G>C" "r.spl" "p.?" ""
"0000899912" "00001847" "90" "5100" "0" "5100" "0" "c.5100T>G" "r.(?)" "p.(Tyr1700Ter)" ""
"0000899915" "00001847" "90" "6289" "0" "6289" "0" "c.6289C>T" "r.(?)" "p.(Pro2097Ser)" ""
"0000899916" "00001847" "90" "6725" "0" "6725" "0" "c.6725del" "r.(?)" "p.(Asp2242AlafsTer5)" ""
"0000899917" "00001847" "90" "1017" "0" "1017" "0" "c.1017G>T" "r.(?)" "p.(Trp339Cys)" ""
"0000899918" "00001847" "90" "2063" "0" "2063" "0" "c.2063dup" "r.(?)" "p.(Asn688LysfsTer78)" ""
"0000899919" "00001847" "90" "6563" "0" "6563" "0" "c.6563T>C" "r.(?)" "p.(Phe2188Ser)" ""
"0000899921" "00001847" "90" "6563" "0" "6563" "0" "c.6563T>C" "r.(?)" "p.(Phe2188Ser)" ""
"0000899923" "00001847" "90" "6563" "0" "6563" "0" "c.6563T>C" "r.(?)" "p.(Phe2188Ser)" ""
"0000899924" "00001847" "90" "3476" "0" "3476" "0" "c.3476T>C" "r.(?)" "p.(Leu1159Ser)" ""
"0000899925" "00001847" "90" "6563" "0" "6563" "0" "c.6563T>C" "r.(?)" "p.(Phe2188Ser)" ""
"0000899926" "00001847" "90" "6563" "0" "6563" "0" "c.6563T>C" "r.(?)" "p.(Phe2188Ser)" ""
"0000899927" "00001847" "90" "1229" "0" "1229" "0" "c.1229T>C" "r.(?)" "p.(Ile410Thr)" ""
"0000899929" "00001847" "90" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" ""
"0000899930" "00001847" "90" "5327" "0" "5327" "0" "c.5327C>T" "r.(?)" "p.(Pro1776Leu)" ""
"0000899931" "00001847" "90" "5318" "0" "5318" "0" "c.5318C>T" "r.(?)" "p.(Ala1773Val)" ""
"0000899932" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000899933" "00001847" "90" "4045" "0" "4045" "0" "c.4045C>T" "r.(?)" "p.(Gln1349Ter)" ""
"0000899934" "00001847" "90" "6118" "0" "6118" "0" "c.6118C>T" "r.(?)" "p.(Arg2040Ter)" ""
"0000899935" "00001847" "90" "5095" "0" "5095" "0" "c.5095del" "r.(?)" "p.(Leu1699PhefsTer3)" ""
"0000899936" "00001847" "90" "6025" "0" "6025" "0" "c.6025G>T" "r.(?)" "p.(Glu2009Ter)" ""
"0000899937" "00001847" "90" "1958" "0" "1958" "0" "c.1958G>A" "r.(?)" "p.(Arg653His)" ""
"0000899938" "00001847" "90" "1006" "0" "1006" "0" "c.1006del" "r.(?)" "p.(Ser336ProfsTer38)" ""
"0000899941" "00001847" "90" "4480" "0" "4480" "0" "c.4480del" "r.(?)" "p.(Glu1494ArgfsTer32)" ""
"0000899942" "00001847" "90" "3319" "0" "3319" "0" "c.3319dup" "r.(?)" "p.(Tyr1107LeufsTer68)" ""
"0000899944" "00001847" "90" "1561" "0" "1561" "0" "c.1561del" "r.(?)" "p.(Val521SerfsTer47)" ""
"0000899945" "00001847" "90" "6694" "0" "6694" "0" "c.6694G>T" "r.(?)" "p.(Glu2232Ter)" ""
"0000899946" "00001847" "90" "2195" "0" "2195" "0" "c.2195T>A" "r.(?)" "p.(Ile732Asn)" ""
"0000899947" "00001847" "90" "6563" "0" "6563" "0" "c.6563T>C" "r.(?)" "p.(Phe2188Ser)" ""
"0000899948" "00001847" "90" "6386" "0" "6386" "0" "c.6386G>A" "r.(?)" "p.(Ser2129Asn)" ""
"0000899949" "00001847" "90" "3525" "0" "3525" "0" "c.3525del" "r.(?)" "p.(Thr1176ProfsTer20)" ""
"0000899950" "00001847" "90" "6633" "0" "6634" "0" "c.6633_6634insCTGGCGAGC" "r.(?)" "p.(Ser2211_Ser2212insLeuAlaSer)" ""
"0000899951" "00001847" "90" "2424" "0" "2424" "0" "c.2424C>G" "r.(?)" "p.(Tyr808Ter)" ""
"0000899952" "00001847" "90" "6563" "0" "6563" "0" "c.6563T>C" "r.(?)" "p.(Phe2188Ser)" ""
"0000899953" "00001847" "90" "2857" "0" "2877" "0" "c.2857_2877del" "r.(?)" "p.(Phe953_Thr959del)" ""
"0000899954" "00001847" "90" "3422" "0" "3422" "0" "c.3422C>A" "r.(?)" "p.(Ser1141Ter)" ""
"0000899955" "00001847" "90" "4076" "0" "4076" "0" "c.4076T>C" "r.(?)" "p.(Leu1359Pro)" ""
"0000899956" "00001847" "90" "2424" "0" "2424" "0" "c.2424C>G" "r.(?)" "p.(Tyr808Ter)" ""
"0000899957" "00001847" "70" "2384" "0" "2384" "0" "c.2384G>T" "r.(?)" "p.(Ser795Ile)" ""
"0000899958" "00001847" "90" "161" "-395" "161" "-395" "c.161-395G>A" "r.spl" "p.[(His55ProfsTer136,=)]" ""
"0000899959" "00001847" "90" "5002" "0" "5002" "0" "c.5002C>G" "r.(?)" "p.(Leu1668Val)" ""
"0000899960" "00001847" "90" "6479" "1" "6479" "1" "c.6479+1G>C" "r.spl" "p.?" ""
"0000899961" "00001847" "90" "1561" "0" "1561" "0" "c.1561del" "r.(?)" "p.(Val521SerfsTer47)" ""
"0000899962" "00001847" "90" "2654" "-5" "2654" "-5" "c.2654-5T>G" "r.spl" "p.Gly885AlafsTer50,=" ""
"0000899963" "00001847" "90" "5196" "1" "5196" "1" "c.5196+1G>A" "r.spl" "p.?" ""
"0000899964" "00001847" "90" "6229" "0" "6229" "0" "c.6229C>T" "r.(?)" "p.(Arg2077Trp)" ""
"0000899965" "00001847" "90" "3304" "0" "3304" "0" "c.3304G>T" "r.(?)" "p.(Asp1102Tyr)" ""
"0000899966" "00001847" "90" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" ""
"0000899967" "00001847" "90" "3287" "0" "3287" "0" "c.3287C>T" "r.(?)" "p.(Ser1096Leu)" ""
"0000899968" "00001847" "90" "6563" "0" "6563" "0" "c.6563T>C" "r.(?)" "p.(Phe2188Ser)" ""
"0000899969" "00001847" "90" "2424" "0" "2424" "0" "c.2424C>G" "r.(?)" "p.(Tyr808Ter)" ""
"0000899970" "00001847" "90" "6088" "0" "6088" "0" "c.6088C>T" "r.(?)" "p.(Arg2030Ter)" ""
"0000899971" "00001847" "90" "2919" "0" "2920" "0" "c.2919_2920insGCCAAACACAG" "r.(?)" "p.(Ser974AlafsTer7)" ""
"0000899972" "00001847" "90" "1034" "0" "1034" "0" "c.1034A>C" "r.(?)" "p.(Tyr345Ser)" ""
"0000899973" "00001847" "90" "5327" "0" "5327" "0" "c.5327C>T" "r.(?)" "p.(Pro1776Leu)" ""
"0000899974" "00001847" "90" "2063" "0" "2063" "0" "c.2063dup" "r.(?)" "p.(Asn688LysfsTer78)" ""
"0000899975" "00001847" "90" "2424" "0" "2424" "0" "c.2424C>G" "r.(?)" "p.(Tyr808Ter)" ""
"0000899976" "00001847" "90" "3523" "-2" "3523" "-2" "c.3523-2A>G" "r.spl" "p.?" ""
"0000899977" "00001847" "90" "5929" "0" "5929" "0" "c.5929G>A" "r.(?)" "p.(Gly1977Ser)" ""
"0000899978" "00001847" "90" "4845" "0" "4845" "0" "c.4845dup" "r.(?)" "p.(Lys1616Ter)" ""
"0000899979" "00001847" "90" "6050" "0" "6050" "0" "c.6050G>A" "r.(?)" "p.(Cys2017Tyr)" ""
"0000899980" "00001847" "90" "6119" "0" "6119" "0" "c.6119G>A" "r.(?)" "p.(Arg2040Gln)" ""
"0000899981" "00001847" "90" "2919" "0" "2920" "0" "c.2919_2920insGCCAAACACAG" "r.(?)" "p.(Ser974AlafsTer7)" ""
"0000899982" "00001847" "90" "4254" "-2" "4254" "-2" "c.4254-2A>G" "r.spl" "p.?" ""
"0000899983" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" ""
"0000899984" "00001847" "90" "5196" "1" "5196" "1" "c.5196+1G>A" "r.spl" "p.?" ""
"0000899985" "00001847" "70" "872" "0" "872" "0" "c.872C>T" "r.(?)" "p.(Pro291Leu)" ""
"0000899986" "00001847" "90" "1982" "0" "1982" "0" "c.1982T>G" "r.(?)" "p.(Leu661Arg)" ""
"0000899987" "00001847" "90" "1819" "0" "1819" "0" "c.1819G>A" "r.(?)" "p.(Gly607Arg)" ""
"0000899988" "00001847" "90" "1597" "0" "1597" "0" "c.1597C>T" "r.(?)" "p.(Gln533Ter)" ""
"0000899989" "00001847" "90" "6088" "0" "6088" "0" "c.6088C>T" "r.(?)" "p.(Arg2030Ter)" ""
"0000899990" "00001847" "90" "6118" "0" "6118" "0" "c.6118C>T" "r.(?)" "p.(Arg2040Ter)" ""
"0000899991" "00001847" "90" "5197" "-1" "5197" "-1" "c.5197-1G>A" "r.spl" "p.?" ""
"0000899992" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" ""
"0000899993" "00001847" "90" "1760" "0" "1760" "0" "c.1760G>A" "r.(?)" "p.(Arg587Lys)" ""
"0000899994" "00001847" "90" "6563" "0" "6563" "0" "c.6563T>C" "r.(?)" "p.(Phe2188Ser)" ""
"0000899995" "00001847" "90" "5761" "0" "5761" "0" "c.5761G>T" "r.(?)" "p.(Val1921Leu)" ""
"0000899996" "00001847" "70" "3106" "0" "3106" "0" "c.3106G>A" "r.(?)" "p.(Glu1036Lys)" ""
"0000899998" "00001847" "70" "1017" "0" "1017" "0" "c.1017G>A" "r.(?)" "p.(Trp339Ter)" ""
"0000899999" "00001847" "70" "3106" "0" "3106" "0" "c.3106G>A" "r.(?)" "p.(Glu1036Lys)" ""
"0000900000" "00001847" "70" "3106" "0" "3106" "0" "c.3106G>A" "r.(?)" "p.(Glu1036Lys)" ""
"0000900001" "00001847" "70" "5881" "0" "5881" "0" "c.5881G>A" "r.(?)" "p.(Gly1961Arg)" ""
"0000900003" "00001847" "70" "3106" "0" "3106" "0" "c.3106G>A" "r.(?)" "p.(Glu1036Lys)" ""
"0000900004" "00001847" "70" "6127" "0" "6127" "0" "c.6127C>T" "r.(?)" "p.(Pro2043Ser)" ""
"0000900005" "00001847" "70" "6119" "0" "6119" "0" "c.6119G>A" "r.(?)" "p.(Arg2040Gln)" ""
"0000900006" "00001847" "70" "6106" "0" "6106" "0" "c.6106del" "r.(?)" "p.(Tyr2036MetfsTer25)" ""
"0000900007" "00001847" "70" "4508" "0" "4508" "0" "c.4508C>T" "r.(?)" "p.(Pro1503Leu)" ""
"0000900008" "00001847" "70" "4436" "0" "4436" "0" "c.4436G>A" "r.(?)" "p.(Trp1479Ter)" ""
"0000900009" "00001847" "70" "5527" "0" "5527" "0" "c.5527C>T" "r.(?)" "p.(Arg1843Trp)" ""
"0000900010" "00001847" "70" "5501" "0" "5501" "0" "c.5501T>C" "r.(?)" "p.(Ile1834Thr)" ""
"0000900011" "00001847" "70" "3106" "0" "3106" "0" "c.3106G>A" "r.(?)" "p.(Glu1036Lys)" ""
"0000900012" "00001847" "70" "6119" "0" "6119" "0" "c.6119G>A" "r.(?)" "p.(Arg2040Gln)" ""
"0000900013" "00001847" "70" "3106" "0" "3106" "0" "c.3106G>A" "r.(?)" "p.(Glu1036Lys)" ""
"0000900014" "00001847" "70" "3106" "0" "3106" "0" "c.3106G>A" "r.(?)" "p.(Glu1036Lys)" ""
"0000900015" "00001847" "70" "1610" "0" "1610" "0" "c.1610G>A" "r.(?)" "p.(Arg537His)" ""
"0000900016" "00001847" "70" "3106" "0" "3106" "0" "c.3106G>A" "r.(?)" "p.(Glu1036Lys)" ""
"0000900017" "00001847" "70" "3106" "0" "3106" "0" "c.3106G>A" "r.(?)" "p.(Glu1036Lys)" ""
"0000900018" "00001847" "70" "3191" "0" "3191" "0" "c.3191G>A" "r.(?)" "p.(Gly1064Asp)" ""
"0000900019" "00001847" "70" "3106" "0" "3106" "0" "c.3106G>A" "r.(?)" "p.(Glu1036Lys)" ""
"0000900020" "00001847" "70" "1648" "0" "1648" "0" "c.1648G>A" "r.(?)" "p.(Gly550Arg)" ""
"0000900021" "00001847" "70" "6006" "-1" "6006" "-1" "c.6006-1G>A" "r.spl" "p.?" ""
"0000900022" "00001847" "70" "3106" "0" "3106" "0" "c.3106G>A" "r.(?)" "p.(Glu1036Lys)" ""
"0000900023" "00001847" "70" "4113" "0" "4113" "0" "c.4113G>T" "r.(?)" "p.(Lys1371Asn)" ""
"0000900024" "00001847" "70" "4508" "0" "4508" "0" "c.4508C>T" "r.(?)" "p.(Pro1503Leu)" ""
"0000900728" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000900729" "00001847" "90" "6319" "0" "6325" "0" "c.6319_6325del" "r.(?)" "p.(Arg2107Cysfs*6)" "46"
"0000900730" "00001847" "90" "4537" "0" "4537" "0" "c.4537dup" "r.(?)" "p.(Gln1513Profs*42)" "30"
"0000900731" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000900732" "00001847" "90" "2919" "-826" "2919" "-826" "c.2919-826T>A" "r.[2918_2919ins2919-957_2919-825,=]" "p.[Leu973Phefs*1,=]" "19i"
"0000900733" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000900734" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000900735" "00001847" "90" "699" "0" "768" "341" "c.699_768+341del" "r.(?)" "p.(Gln234Phefs*5)" "6_6i"
"0000900736" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000900737" "00001847" "90" "6480" "-1" "6480" "-1" "c.6480-1G>T" "r.spl" "p.(?)" "47i"
"0000900738" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000900739" "00001847" "90" "699" "0" "768" "341" "c.699_768+341del" "r.(?)" "p.(Gln234Phefs*5)" "6_6i"
"0000900740" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000900741" "00001847" "90" "4539" "2064" "4539" "2064" "c.4539+2064C>T" "r.[=,4539_4540ins4539+1891_4540-2162]" "p.[=,Arg1514Leufs*36]" "30i"
"0000900742" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000900743" "00001847" "90" "4539" "2064" "4539" "2064" "c.4539+2064C>T" "r.[=,4539_4540ins4539+1891_4540-2162]" "p.[=,Arg1514Leufs*36]" "30i"
"0000900744" "00001847" "70" "3364" "0" "3364" "0" "c.3364G>A" "r.(?)" "p.(Glu1122Lys)" "23"
"0000900745" "00001847" "70" "4253" "43" "4253" "43" "c.4253+43G>A" "r.[=,4129_4253del]" "p.[=,Ile1377Hisfs*3]" "28i"
"0000900746" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000900747" "00001847" "70" "1667" "0" "1667" "0" "c.1667T>G" "r.(?)" "p.(Met556Arg)" "12"
"0000900748" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000900749" "00001847" "70" "1766" "0" "1766" "0" "c.1766G>C" "r.(?)" "p.(Trp589Ser)" "13"
"0000900750" "00001847" "90" "1819" "0" "1819" "0" "c.1819G>C" "r.(?)" "p.(Gly607Arg)" "13"
"0000900751" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000900752" "00001847" "70" "2161" "-8" "2161" "-8" "c.2161-8G>A" "r.2161_2382del" "p.(His721_Val794del)" "14i"
"0000900753" "00001847" "90" "2613" "0" "2613" "0" "c.2613G>A" "r.(?)" "p.(Trp871*)" "17"
"0000900754" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.768_769ins769+1_769+30" "p.(Leu257Valfs*17)" "6"
"0000900755" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000900756" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000900757" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000900758" "00001847" "90" "4734" "0" "4734" "0" "c.4734del" "r.(?)" "p.(Leu1580*)" "33"
"0000900759" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000900760" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000900761" "00001847" "50" "5908" "0" "5908" "0" "c.5908C>T" "r.(?)" "p.(Leu1970Phe)" "43"
"0000900762" "00001847" "70" "4253" "4" "4253" "4" "c.4253+4C>T" "r.4129_4253del" "p.(Ile1377Hisfs*3)" "28i"
"0000900763" "00001847" "70" "4253" "43" "4253" "43" "c.4253+43G>A" "r.[=,4129_4253del]" "p.[=,Ile1377Hisfs*3]" "28i"
"0000900764" "00001847" "70" "1015" "0" "1015" "0" "c.1015T>G" "r.(?)" "p.(Trp339Gly)" "8"
"0000900765" "00001847" "70" "769" "-784" "769" "-784" "c.769-784C>T" "r.[=,768_769ins769-617_769-778]" "p.[=,Leu257Aspfs*3]" "6i"
"0000900766" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000900767" "00001847" "90" "4539" "2064" "4539" "2064" "c.4539+2064C>T" "r.[=,4539_4540ins4539+1891_4540-2162]" "p.[=,Arg1514Leufs*36]" "30i"
"0000900768" "00001847" "90" "4539" "2064" "4539" "2064" "c.4539+2064C>T" "r.[=,4539_4540ins4539+1891_4540-2162]" "p.[=,Arg1514Leufs*36]" "30i"
"0000900769" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000900770" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000900771" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000900772" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000900773" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000900774" "00001847" "70" "5929" "0" "5929" "0" "c.5929G>A" "r.(?)" "p.(Gly1977Ser)" "43"
"0000900775" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000900776" "00001847" "70" "3482" "0" "3482" "0" "c.3482G>A" "r.(?)" "p.(Arg1161His)" "23"
"0000900777" "00001847" "70" "3482" "0" "3482" "0" "c.3482G>A" "r.(?)" "p.(Arg1161His)" "23"
"0000900778" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000900779" "00001847" "70" "769" "-784" "769" "-784" "c.769-784C>T" "r.[=,768_769ins769-617_769-778]" "p.[=,Leu257Aspfs*3]" "6i"
"0000900780" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000900781" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000900782" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000900783" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000900784" "00001847" "90" "5018" "2" "5018" "2" "c.5018+2T>C" "r.spl" "p.(?)" "35i"
"0000900785" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000900786" "00001847" "50" "1846" "0" "1846" "0" "c.1846G>A" "r.(?)" "p.(Glu616Lys)" "13"
"0000900787" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000900788" "00001847" "50" "1846" "0" "1846" "0" "c.1846G>A" "r.(?)" "p.(Glu616Lys)" "13"
"0000900789" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000900790" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000900791" "00001847" "50" "5235" "0" "5235" "0" "c.5235C>G" "r.(?)" "p.(Ile1745Met)" "37"
"0000900792" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000900793" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000900794" "00001847" "90" "4539" "2064" "4539" "2064" "c.4539+2064C>T" "r.[=,4539_4540ins4539+1891_4540-2162]" "p.[=,Arg1514Leufs*36]" "30i"
"0000900795" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000900796" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000900797" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000900798" "00001847" "50" "1846" "0" "1846" "0" "c.1846G>A" "r.(?)" "p.(Glu616Lys)" "13"
"0000900799" "00001847" "90" "5018" "2" "5018" "2" "c.5018+2T>C" "r.spl" "p.(?)" "35i"
"0000900800" "00001847" "90" "571" "-1" "571" "-1" "c.571-1G>T" "r.spl" "p.(?)" "5i"
"0000900801" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000900802" "00001847" "70" "286" "0" "286" "0" "c.286A>G" "r.(?)" "p.(Asn96Asp)" "3"
"0000900803" "00001847" "90" "5018" "2" "5018" "2" "c.5018+2T>C" "r.spl" "p.(?)" "35i"
"0000900804" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000900805" "00001847" "90" "5018" "2" "5018" "2" "c.5018+2T>C" "r.spl" "p.(?)" "35i"
"0000900806" "00001847" "90" "571" "-1" "571" "-1" "c.571-1G>T" "r.spl" "p.(?)" "5i"
"0000900807" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000900808" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000900809" "00001847" "90" "6658" "0" "6658" "0" "c.6658C>T" "r.(?)" "p.(Gln2220*)" "48"
"0000900810" "00001847" "70" "4316" "0" "4316" "0" "c.4316G>A" "r.(?)" "p.(Gly1439Asp)" "29"
"0000900811" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000900812" "00001847" "70" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" "44"
"0000900813" "00001847" "90" "247" "0" "250" "0" "c.247_250dup" "r.(?)" "p.(Ser84Thrfs*16)" "3"
"0000900814" "00001847" "90" "5018" "2" "5018" "2" "c.5018+2T>C" "r.spl" "p.(?)" "35i"
"0000900815" "00001847" "90" "571" "-1" "571" "-1" "c.571-1G>T" "r.spl" "p.(?)" "5i"
"0000900816" "00001847" "90" "5018" "2" "5018" "2" "c.5018+2T>C" "r.spl" "p.(?)" "35i"
"0000900817" "00001847" "90" "571" "-1" "571" "-1" "c.571-1G>T" "r.spl" "p.(?)" "5i"
"0000900818" "00001847" "90" "3212" "0" "3212" "0" "c.3212C>T" "r.(?)" "p.(Ser1071Leu)" "22"
"0000900819" "00001847" "90" "5196" "1" "5196" "1" "c.5196+1G>A" "r.spl" "p.(?)" "36i"
"0000900820" "00001847" "70" "286" "0" "286" "0" "c.286A>G" "r.(?)" "p.(Asn96Asp)" "3"
"0000900821" "00001847" "70" "6545" "0" "6580" "0" "c.6545_6580del" "r.(?)" "p.(Leu2182_Phe2193del)" "48"
"0000900822" "00001847" "90" "247" "0" "250" "0" "c.247_250dup" "r.(?)" "p.(Ser84Thrfs*16)" "3"
"0000900823" "00001847" "70" "2161" "-8" "2161" "-8" "c.2161-8G>A" "r.2161_2382del" "p.(His721_Val794del)" "14i"
"0000900824" "00001847" "70" "286" "0" "286" "0" "c.286A>G" "r.(?)" "p.(Asn96Asp)" "3"
"0000900825" "00001847" "50" "4195" "0" "4195" "0" "c.4195G>A" "r.(?)" "p.(Glu1399Lys)" "28"
"0000900826" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000900827" "00001847" "70" "5318" "0" "5318" "0" "c.5318C>T" "r.(?)" "p.(Ala1773Val)" "38"
"0000900828" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000900829" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000900830" "00001847" "70" "1015" "0" "1015" "0" "c.1015T>G" "r.(?)" "p.(Trp339Gly)" "8"
"0000900831" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000900832" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000900833" "00001847" "70" "4539" "2001" "4539" "2001" "c.4539+2001G>A" "r.[=,4539_4540ins4539+1891_4540-2162]" "p.[=,Arg1514Leufs*36]" "30i"
"0000900834" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000900835" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000900836" "00001847" "90" "454" "0" "454" "0" "c.454C>T" "r.(?)" "p.(Arg152*)" "5"
"0000900837" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000900838" "00001847" "70" "3794" "0" "3794" "0" "c.3794C>G" "r.(?)" "p.(Ser1265Cys)" "25"
"0000900839" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000900840" "00001847" "70" "3304" "0" "3304" "0" "c.3304G>T" "r.(?)" "p.(Asp1102Tyr)" "22"
"0000900841" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000900842" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000900843" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000900844" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000900845" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000900846" "00001847" "70" "4253" "43" "4253" "43" "c.4253+43G>A" "r.[=,4129_4253del]" "p.[=,Ile1377Hisfs*3]" "28i"
"0000900847" "00001847" "70" "4253" "4" "4253" "4" "c.4253+4C>T" "r.4129_4253del" "p.(Ile1377Hisfs*3)" "28i"
"0000900848" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000900849" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000900850" "00001847" "90" "859" "-640" "859" "-640" "c.859-640A>G" "r.858_859ins859-685_859-640" "p.(Phe287Tyrfs*69)" "7i"
"0000900851" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000900852" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000900853" "00001847" "70" "1253" "0" "1253" "0" "c.1253T>C" "r.(?)" "p.(Phe418Ser)" "10"
"0000900854" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000900855" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000900856" "00001847" "90" "1906" "0" "1906" "0" "c.1906C>T" "r.(?)" "p.(Gln636*)" "13"
"0000900857" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000900858" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000900859" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000900860" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000900861" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000900862" "00001847" "50" "6352" "0" "6352" "0" "c.6352del" "r.(?)" "p.(Arg2118Glufs*27)" "46"
"0000900863" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000900864" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.768_769ins769+1_769+30" "p.(Leu257Valfs*17)" "6"
"0000900865" "00001847" "70" "4539" "2001" "4539" "2001" "c.4539+2001G>A" "r.[=,4539_4540ins4539+1891_4540-2162]" "p.[=,Arg1514Leufs*36]" "30i"
"0000900866" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000900867" "00001847" "90" "454" "0" "454" "0" "c.454C>T" "r.(?)" "p.(Arg152*)" "5"
"0000900868" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000900869" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000900870" "00001847" "70" "1181" "0" "1181" "0" "c.1181T>A" "r.(?)" "p.(Leu394Gln)" "9"
"0000900871" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000900872" "00001847" "70" "3389" "0" "3389" "0" "c.3389T>C" "r.(?)" "p.(Ile1130Thr)" "23"
"0000900873" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000900874" "00001847" "50" "656" "0" "656" "0" "c.656G>C" "r.(?)" "p.(Arg219Thr)" "6"
"0000900875" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000900876" "00001847" "90" "1086" "0" "1086" "0" "c.1086T>A" "r.(?)" "p.(Tyr362*)" "8"
"0000900877" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000900878" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000900879" "00001847" "70" "1531" "0" "1531" "0" "c.1531C>T" "r.(?)" "p.(Arg511Cys)" "11"
"0000900880" "00001847" "70" "4539" "2001" "4539" "2001" "c.4539+2001G>A" "r.[=,4539_4540ins4539+1891_4540-2162]" "p.[=,Arg1514Leufs*36]" "30i"
"0000900881" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000900882" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000900883" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000900884" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000900885" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000900886" "00001847" "70" "4222" "0" "4222" "0" "c.4222T>C" "r.(?)" "p.(Trp1408Arg)" "28"
"0000900887" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000900888" "00001847" "70" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" "35"
"0000900889" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000900890" "00001847" "70" "4539" "2001" "4539" "2001" "c.4539+2001G>A" "r.[=,4539_4540ins4539+1891_4540-2162]" "p.[=,Arg1514Leufs*36]" "30i"
"0000900891" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000900892" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000900893" "00001847" "70" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" "44"
"0000900894" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000900895" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000900896" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000900897" "00001847" "90" "6658" "0" "6658" "0" "c.6658C>T" "r.(?)" "p.(Gln2220*)" "48"
"0000900898" "00001847" "90" "6658" "0" "6658" "0" "c.6658C>T" "r.(?)" "p.(Gln2220*)" "48"
"0000900899" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000900900" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.768_769ins769+1_769+30" "p.(Leu257Valfs*17)" "6"
"0000900901" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000900902" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000900903" "00001847" "90" "2041" "0" "2041" "0" "c.2041C>T" "r.(?)" "p.(Arg681*)" "14"
"0000900904" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000900905" "00001847" "90" "4537" "0" "4537" "0" "c.4537dup" "r.(?)" "p.(Gln1513Profs*42)" "30"
"0000900906" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000900907" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000900908" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000900909" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000900910" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000900911" "00001847" "90" "6445" "0" "6445" "0" "c.6445C>T" "r.(?)" "p.(Arg2149*)" "47"
"0000900912" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000900913" "00001847" "90" "3259" "0" "3259" "0" "c.3259G>A" "r.(?)" "p.(Glu1087Lys)" "22"
"0000900914" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000900915" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000900916" "00001847" "70" "6215" "0" "6215" "0" "c.6215G>A" "r.(?)" "p.(Ser2072Asn)" "45"
"0000900917" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.768_769ins769+1_769+30" "p.(Leu257Valfs*17)" "6"
"0000900918" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000900919" "00001847" "90" "4634" "1" "4634" "1" "c.4634+1del" "r.spl" "p.(?)" "31i"
"0000900920" "00001847" "90" "4634" "1" "4634" "1" "c.4634+1del" "r.spl" "p.(?)" "31i"
"0000900921" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000900922" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000900923" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000900924" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000900925" "00001847" "70" "4539" "2001" "4539" "2001" "c.4539+2001G>A" "r.[=,4539_4540ins4539+1891_4540-2162]" "p.[=,Arg1514Leufs*36]" "30i"
"0000900926" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000900927" "00001847" "70" "4539" "2001" "4539" "2001" "c.4539+2001G>A" "r.[=,4539_4540ins4539+1891_4540-2162]" "p.[=,Arg1514Leufs*36]" "30i"
"0000900928" "00001847" "90" "2966" "0" "2966" "0" "c.2966T>C" "r.(?)" "p.(Val989Ala)" "20"
"0000900929" "00001847" "90" "4809" "0" "4809" "0" "c.4809del" "r.(?)" "p.(Asp1604Ilefs*6)" "34"
"0000900930" "00001847" "90" "454" "0" "454" "0" "c.454C>T" "r.(?)" "p.(Arg152*)" "5"
"0000900931" "00001847" "90" "454" "0" "454" "0" "c.454C>T" "r.(?)" "p.(Arg152*)" "5"
"0000900932" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000900933" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000900934" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000900935" "00001847" "90" "4634" "1" "4634" "1" "c.4634+1del" "r.spl" "p.(?)" "31i"
"0000900936" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000900937" "00001847" "70" "859" "-9" "859" "-9" "c.859-9T>C" "r.[=,859_1356del]" "p.[=,Phe287_Arg452del]" "7i"
"0000900938" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000900939" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000900940" "00001847" "70" "4539" "2001" "4539" "2001" "c.4539+2001G>A" "r.[=,4539_4540ins4539+1891_4540-2162]" "p.[=,Arg1514Leufs*36]" "30i"
"0000900941" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000900942" "00001847" "70" "4539" "2001" "4539" "2001" "c.4539+2001G>A" "r.[=,4539_4540ins4539+1891_4540-2162]" "p.[=,Arg1514Leufs*36]" "30i"
"0000900943" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000900944" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000900945" "00001847" "70" "4539" "2001" "4539" "2001" "c.4539+2001G>A" "r.[=,4539_4540ins4539+1891_4540-2162]" "p.[=,Arg1514Leufs*36]" "30i"
"0000900946" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000900947" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000900948" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000900949" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.768_769ins769+1_769+30" "p.(Leu257Valfs*17)" "6"
"0000900950" "00001847" "70" "4539" "2001" "4539" "2001" "c.4539+2001G>A" "r.[=,4539_4540ins4539+1891_4540-2162]" "p.[=,Arg1514Leufs*36]" "30i"
"0000900951" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000900952" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000900953" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000900954" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000900955" "00001847" "70" "4539" "2001" "4539" "2001" "c.4539+2001G>A" "r.[=,4539_4540ins4539+1891_4540-2162]" "p.[=,Arg1514Leufs*36]" "30i"
"0000900956" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000900957" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.768_769ins769+1_769+30" "p.(Leu257Valfs*17)" "6"
"0000900958" "00001847" "70" "1613" "0" "1613" "0" "c.1613C>A" "r.(?)" "p.(Ala538Asp)" "12"
"0000900959" "00001847" "90" "454" "0" "454" "0" "c.454C>T" "r.(?)" "p.(Arg152*)" "5"
"0000900960" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000900961" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.768_769ins769+1_769+30" "p.(Leu257Valfs*17)" "6"
"0000900962" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000900963" "00001847" "70" "3364" "0" "3364" "0" "c.3364G>A" "r.(?)" "p.(Glu1122Lys)" "23"
"0000900964" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000900965" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000900966" "00001847" "90" "46" "0" "47" "0" "c.46_47del" "r.(?)" "p.(Thr16Profs*37)" "1"
"0000900967" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000900968" "00001847" "90" "2041" "0" "2041" "0" "c.2041C>T" "r.(?)" "p.(Arg681*)" "14"
"0000900969" "00001847" "70" "4539" "2001" "4539" "2001" "c.4539+2001G>A" "r.[=,4539_4540ins4539+1891_4540-2162]" "p.[=,Arg1514Leufs*36]" "30i"
"0000900970" "00001847" "90" "2774" "0" "2774" "0" "c.2774G>A" "r.(?)" "p.(Trp925*)" "19"
"0000900971" "00001847" "70" "6107" "0" "6107" "0" "c.6107A>G" "r.(?)" "p.(Tyr2036Cys)" "44"
"0000900972" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000900973" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000900974" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000900975" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000900976" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000900977" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000900978" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000900979" "00001847" "70" "4539" "2001" "4539" "2001" "c.4539+2001G>A" "r.[=,4539_4540ins4539+1891_4540-2162]" "p.[=,Arg1514Leufs*36]" "30i"
"0000900980" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000900981" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000900982" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000900983" "00001847" "90" "454" "0" "454" "0" "c.454C>T" "r.(?)" "p.(Arg152*)" "5"
"0000900984" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000900985" "00001847" "90" "454" "0" "454" "0" "c.454C>T" "r.(?)" "p.(Arg152*)" "5"
"0000900986" "00001847" "70" "6107" "0" "6107" "0" "c.6107A>G" "r.(?)" "p.(Tyr2036Cys)" "44"
"0000900987" "00001847" "70" "3304" "0" "3304" "0" "c.3304G>T" "r.(?)" "p.(Asp1102Tyr)" "22"
"0000900988" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000900989" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000900990" "00001847" "70" "4539" "2001" "4539" "2001" "c.4539+2001G>A" "r.[=,4539_4540ins4539+1891_4540-2162]" "p.[=,Arg1514Leufs*36]" "30i"
"0000900991" "00001847" "50" "6148" "0" "6148" "0" "c.6148G>C" "r.=" "p.(Val2050Leu)" "45"
"0000900992" "00001847" "70" "769" "-784" "769" "-784" "c.769-784C>T" "r.[=,768_769ins769-617_769-778]" "p.[=,Leu257Aspfs*3]" "6i"
"0000900993" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000900994" "00001847" "70" "6107" "0" "6107" "0" "c.6107A>G" "r.(?)" "p.(Tyr2036Cys)" "44"
"0000900995" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000900996" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000900997" "00001847" "70" "4539" "2001" "4539" "2001" "c.4539+2001G>A" "r.[=,4539_4540ins4539+1891_4540-2162]" "p.[=,Arg1514Leufs*36]" "30i"
"0000900998" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000900999" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901000" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000901001" "00001847" "70" "4539" "2001" "4539" "2001" "c.4539+2001G>A" "r.[=,4539_4540ins4539+1891_4540-2162]" "p.[=,Arg1514Leufs*36]" "30i"
"0000901002" "00001847" "90" "1317" "0" "1317" "0" "c.1317G>A" "r.(?)" "p.(Trp439*)" "10"
"0000901003" "00001847" "70" "4539" "2001" "4539" "2001" "c.4539+2001G>A" "r.[=,4539_4540ins4539+1891_4540-2162]" "p.[=,Arg1514Leufs*36]" "30i"
"0000901004" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000901005" "00001847" "70" "1253" "0" "1253" "0" "c.1253T>C" "r.(?)" "p.(Phe418Ser)" "10"
"0000901006" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901007" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000901008" "00001847" "70" "4539" "2001" "4539" "2001" "c.4539+2001G>A" "r.[=,4539_4540ins4539+1891_4540-2162]" "p.[=,Arg1514Leufs*36]" "30i"
"0000901009" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000901010" "00001847" "70" "1253" "0" "1253" "0" "c.1253T>C" "r.(?)" "p.(Phe418Ser)" "10"
"0000901011" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901012" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000901013" "00001847" "70" "1554" "3" "1554" "3" "c.1554+3A>T" "r.[1357_1554del,=]" "p.[Asp453_Glu518del,=]" "11i"
"0000901014" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901015" "00001847" "70" "3304" "0" "3304" "0" "c.3304G>T" "r.(?)" "p.(Asp1102Tyr)" "22"
"0000901016" "00001847" "70" "4539" "2001" "4539" "2001" "c.4539+2001G>A" "r.[=,4539_4540ins4539+1891_4540-2162]" "p.[=,Arg1514Leufs*36]" "30i"
"0000901017" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000901018" "00001847" "90" "4848" "1" "4848" "1" "c.4848+1G>T" "r.spl" "p.(?)" "34i"
"0000901019" "00001847" "90" "6658" "0" "6658" "0" "c.6658C>T" "r.(?)" "p.(Gln2220*)" "48"
"0000901020" "00001847" "70" "859" "-9" "859" "-9" "c.859-9T>C" "r.[=,859_1356del]" "p.[=,Phe287_Arg452del]" "7i"
"0000901021" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000901022" "00001847" "70" "6112" "0" "6112" "0" "c.6112C>T" "r.(?)" "p.(Arg2038Trp)" "44"
"0000901023" "00001847" "90" "5196" "1056" "5196" "1056" "c.5196+1056A>G" "r.5196_5197ins5196+880_5196+1056" "p.(Met1733Valfs*2)" "36i"
"0000901024" "00001847" "70" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" "35"
"0000901025" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901026" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000901027" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000901028" "00001847" "70" "6107" "0" "6107" "0" "c.6107A>G" "r.(?)" "p.(Tyr2036Cys)" "44"
"0000901029" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901030" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000901031" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901032" "00001847" "70" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" "44"
"0000901033" "00001847" "90" "859" "-640" "859" "-640" "c.859-640A>G" "r.858_859ins859-685_859-640" "p.(Phe287Tyrfs*69)" "7i"
"0000901034" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000901035" "00001847" "70" "1359" "0" "1359" "0" "c.1359T>G" "r.(?)" "p.(Asp453Glu)" "11"
"0000901036" "00001847" "70" "4539" "2001" "4539" "2001" "c.4539+2001G>A" "r.[=,4539_4540ins4539+1891_4540-2162]" "p.[=,Arg1514Leufs*36]" "30i"
"0000901037" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000901038" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901039" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901040" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000901041" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901042" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901043" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000901044" "00001847" "70" "4539" "2001" "4539" "2001" "c.4539+2001G>A" "r.[=,4539_4540ins4539+1891_4540-2162]" "p.[=,Arg1514Leufs*36]" "30i"
"0000901045" "00001847" "90" "4634" "1" "4634" "1" "c.4634+1del" "r.spl" "p.(?)" "31i"
"0000901046" "00001847" "70" "6617" "0" "6617" "0" "c.6617T>A" "r.(?)" "p.(Leu2206His)" "48"
"0000901047" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000901048" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901049" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901050" "00001847" "70" "5404" "0" "5404" "0" "c.5404A>G" "r.(?)" "p.(Ile1802Val)" "38"
"0000901051" "00001847" "90" "319" "0" "319" "0" "c.319C>T" "r.(?)" "p.(Arg107*)" "4"
"0000901052" "00001847" "90" "4634" "2" "4634" "2" "c.4634+2T>C" "r.spl" "p.(?)" "31i"
"0000901053" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000901054" "00001847" "70" "4539" "2001" "4539" "2001" "c.4539+2001G>A" "r.[=,4539_4540ins4539+1891_4540-2162]" "p.[=,Arg1514Leufs*36]" "30i"
"0000901055" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901056" "00001847" "90" "2992" "0" "2992" "0" "c.2992dup" "r.(?)" "p.(Leu998Profs*25)" "20"
"0000901057" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000901058" "00001847" "70" "4539" "2001" "4539" "2001" "c.4539+2001G>A" "r.[=,4539_4540ins4539+1891_4540-2162]" "p.[=,Arg1514Leufs*36]" "30i"
"0000901059" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901060" "00001847" "50" "5077" "0" "5077" "0" "c.5077G>A" "r.(?)" "p.(Val1693Ile)" "36"
"0000901061" "00001847" "90" "5350" "0" "5351" "0" "c.5350_5351insGA" "r.(?)" "p.(Leu1784Argfs*47)" "38"
"0000901062" "00001847" "90" "2971" "0" "2971" "0" "c.2971G>C" "r.(?)" "p.(Gly991Arg)" "20"
"0000901063" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000901064" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000901065" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901066" "00001847" "70" "618" "0" "618" "0" "c.618C>G" "r.(?)" "p.(Ser206Arg)" "6"
"0000901067" "00001847" "70" "53" "0" "53" "0" "c.53G>A" "r.(?)" "p.(Arg18Gln)" "1"
"0000901068" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000901069" "00001847" "70" "1293" "0" "1293" "0" "c.1293G>C" "r.(?)" "p.(Trp431Cys)" "10"
"0000901070" "00001847" "70" "1927" "0" "1927" "0" "c.1927G>A" "r.(?)" "p.(Val643Met)" "13"
"0000901071" "00001847" "70" "618" "0" "618" "0" "c.618C>G" "r.(?)" "p.(Ser206Arg)" "6"
"0000901072" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000901073" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901074" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901075" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000901076" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901077" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000901078" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000901079" "00001847" "70" "4539" "2001" "4539" "2001" "c.4539+2001G>A" "r.[=,4539_4540ins4539+1891_4540-2162]" "p.[=,Arg1514Leufs*36]" "30i"
"0000901080" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000901081" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.768_769ins769+1_769+30" "p.(Leu257Valfs*17)" "6"
"0000901082" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901083" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000901084" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000901085" "00001847" "90" "3315" "0" "3315" "0" "c.3315del" "r.(?)" "p.(Lys1106Serfs*42)" "22"
"0000901086" "00001847" "90" "2971" "0" "2971" "0" "c.2971G>C" "r.(?)" "p.(Gly991Arg)" "20"
"0000901087" "00001847" "90" "3315" "0" "3315" "0" "c.3315del" "r.(?)" "p.(Lys1106Serfs*42)" "22"
"0000901088" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000901089" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000901090" "00001847" "90" "4848" "3" "4848" "3" "c.4848+3A>G" "r.4774_4848del" "p.(Gly1592_Lys1616del)" "34i"
"0000901091" "00001847" "50" "2791" "0" "2791" "0" "c.2791G>A" "r.(?)" "p.(Val931Met)" "19"
"0000901092" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000901093" "00001847" "70" "859" "-506" "859" "-506" "c.859-506G>C" "r.[858_859ins859-503_859-447,=]" "p.[Phe287Thrfs*32,=]" "7i"
"0000901094" "00001847" "50" "2521" "0" "2521" "0" "c.2521C>A" "r.(?)" "p.(Gln841Lys)" "16"
"0000901095" "00001847" "50" "5642" "0" "5642" "0" "c.5642C>T" "r.(?)" "p.(Ala1881Val)" "40"
"0000901096" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000901097" "00001847" "90" "1938" "-514" "1938" "-514" "c.1938-514A>G" "r.[1937_1938ins1937+396_1937+529;1938-623_1938-515],1937_1938ins1938-623_1938-515,=]" "p.[Phe647Serfs*155,Phe647Serfs*22,=]" "13i"
"0000901098" "00001847" "70" "5819" "0" "5819" "0" "c.5819T>C" "r.(?)" "p.(Leu1940Pro)" "41"
"0000901099" "00001847" "90" "3874" "0" "3874" "0" "c.3874C>T" "r.(?)" "p.(Gln1292*)" "27"
"0000901100" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000901101" "00001847" "90" "2483" "0" "2483" "0" "c.2483C>T" "r.(?)" "p.(Pro828Leu)" "16"
"0000901102" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901103" "00001847" "90" "2481" "0" "2481" "0" "c.2481del" "r.(?)" "p.(Thr829Argfs*14)" "16"
"0000901104" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000901105" "00001847" "90" "4539" "2064" "4539" "2064" "c.4539+2064C>T" "r.[=,4539_4540ins4539+1891_4540-2162]" "p.[=,Arg1514Leufs*36]" "30i"
"0000901106" "00001847" "90" "1957" "0" "1957" "0" "c.1957C>T" "r.(?)" "p.(Arg653Cys)" "14"
"0000901107" "00001847" "70" "3089" "0" "3089" "0" "c.3089T>A" "r.=" "p.(=)" "21"
"0000901108" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000901109" "00001847" "90" "247" "0" "250" "0" "c.247_250dup" "r.(?)" "p.(Ser84Thrfs*16)" "3"
"0000901110" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000901111" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000901112" "00001847" "90" "1988" "0" "1988" "0" "c.1988G>A" "r.(?)" "p.(Trp663*)" "14"
"0000901113" "00001847" "50" "3377" "0" "3377" "0" "c.3377T>C" "r.(?)" "p.(Leu1126Pro)" "23"
"0000901114" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000901115" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901116" "00001847" "90" "5196" "1056" "5196" "1056" "c.5196+1056A>G" "r.5196_5197ins5196+880_5196+1056" "p.(Met1733Valfs*2)" "36i"
"0000901117" "00001847" "50" "656" "0" "656" "0" "c.656G>C" "r.(?)" "p.(Arg219Thr)" "6"
"0000901118" "00001847" "70" "3862" "0" "3862" "0" "c.3862G>A" "r.[3863g>a,3814_3862del]" "p.[=,Gly1288Ser,Ile1272Valfs*101]" "26"
"0000901119" "00001847" "90" "5196" "1056" "5196" "1056" "c.5196+1056A>G" "r.5196_5197ins5196+880_5196+1056" "p.(Met1733Valfs*2)" "36i"
"0000901120" "00001847" "90" "5196" "1056" "5196" "1056" "c.5196+1056A>G" "r.5196_5197ins5196+880_5196+1056" "p.(Met1733Valfs*2)" "36i"
"0000901121" "00001847" "70" "5527" "0" "5527" "0" "c.5527C>T" "r.(?)" "p.(Arg1843Trp)" "39"
"0000901122" "00001847" "90" "5196" "1056" "5196" "1056" "c.5196+1056A>G" "r.5196_5197ins5196+880_5196+1056" "p.(Met1733Valfs*2)" "36i"
"0000901123" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000901124" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.768_769ins769+1_769+30" "p.(Leu257Valfs*17)" "6"
"0000901125" "00001847" "90" "1988" "0" "1988" "0" "c.1988G>A" "r.(?)" "p.(Trp663*)" "14"
"0000901126" "00001847" "90" "1957" "0" "1957" "0" "c.1957C>T" "r.(?)" "p.(Arg653Cys)" "14"
"0000901127" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901128" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901129" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000901130" "00001847" "90" "6088" "0" "6088" "0" "c.6088C>T" "r.(?)" "p.(Arg2030*)" "44"
"0000901131" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901132" "00001847" "90" "3292" "0" "3292" "0" "c.3292C>T" "r.(?)" "p.(Arg1098Cys)" "22"
"0000901133" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000901134" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.768_769ins769+1_769+30" "p.(Leu257Valfs*17)" "6"
"0000901135" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000901136" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000901137" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000901138" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000901139" "00001847" "90" "5196" "1056" "5196" "1056" "c.5196+1056A>G" "r.5196_5197ins5196+880_5196+1056" "p.(Met1733Valfs*2)" "36i"
"0000901140" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000901141" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901142" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000901143" "00001847" "90" "5312" "1" "5312" "1" "c.5312+1G>A" "r.spl" "p.(?)" "37i"
"0000901144" "00001847" "70" "6446" "0" "6446" "0" "c.6446G>T" "r.(?)" "p.(Arg2149Leu)" "47"
"0000901145" "00001847" "90" "2565" "0" "2572" "0" "c.2565_2572del" "r.(?)" "p.(Trp855*)" "16"
"0000901146" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000901147" "00001847" "90" "5196" "1056" "5196" "1056" "c.5196+1056A>G" "r.5196_5197ins5196+880_5196+1056" "p.(Met1733Valfs*2)" "36i"
"0000901148" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000901149" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000901150" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000901151" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000901152" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000901153" "00001847" "90" "2565" "0" "2572" "0" "c.2565_2572del" "r.(?)" "p.(Trp855*)" "16"
"0000901154" "00001847" "70" "3813" "0" "3813" "0" "c.3813G>C" "r.3608_3813del" "p.(Gly1203Aspfs*10)" "25"
"0000901155" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000901156" "00001847" "90" "4537" "0" "4537" "0" "c.4537dup" "r.(?)" "p.(Gln1513Profs*42)" "30"
"0000901157" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000901158" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000901159" "00001847" "70" "6283" "-78" "6283" "-78" "c.6283-78G>T" "r.[=,6283_6283ins6283-282_6283-80]" "p.[=,Asp2095Aspfr*12]" "45i"
"0000901160" "00001847" "70" "6283" "-78" "6283" "-78" "c.6283-78G>T" "r.[=,6283_6283ins6283-282_6283-80]" "p.[=,Asp2095Aspfr*12]" "45i"
"0000901161" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901162" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000901163" "00001847" "90" "6088" "0" "6088" "0" "c.6088C>T" "r.(?)" "p.(Arg2030*)" "44"
"0000901164" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000901165" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000901166" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000901167" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000901168" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000901169" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000901170" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000901171" "00001847" "70" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" "35"
"0000901172" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000901173" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000901174" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000901175" "00001847" "70" "6216" "0" "6216" "0" "c.6216T>G" "r.(?)" "p.(Ser2072Arg)" "45"
"0000901176" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000901177" "00001847" "70" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" "35"
"0000901178" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000901179" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000901180" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000901181" "00001847" "70" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" "35"
"0000901182" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000901183" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000901184" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000901185" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000901186" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000901187" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901188" "00001847" "90" "2888" "0" "2888" "0" "c.2888del" "r.(?)" "p.(Gly963Alafs*14)" "19"
"0000901189" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901190" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000901191" "00001847" "90" "4539" "1" "4539" "1" "c.4539+1G>C" "r.spl" "p.(?)" "30i"
"0000901192" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000901193" "00001847" "90" "4736" "0" "4739" "0" "c.4736_4739del" "r.(?)" "p.(Phe1579*)" "33"
"0000901194" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000901195" "00001847" "90" "699" "0" "768" "341" "c.699_768+341del" "r.(?)" "p.(Gln234Phefs*5)" "6_6i"
"0000901196" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000901197" "00001847" "90" "699" "0" "768" "341" "c.699_768+341del" "r.(?)" "p.(Gln234Phefs*5)" "6_6i"
"0000901198" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000901199" "00001847" "90" "4736" "0" "4739" "0" "c.4736_4739del" "r.(?)" "p.(Phe1579*)" "33"
"0000901200" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000901201" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000901202" "00001847" "70" "769" "-784" "769" "-784" "c.769-784C>T" "r.[=,768_769ins769-617_769-778]" "p.[=,Leu257Aspfs*3]" "6i"
"0000901203" "00001847" "90" "1938" "-619" "1938" "-619" "c.1938-619A>G" "r.[1937_1938ins1938-797_1938-624,=]" "p.[Phe647Alafs*22,=]" "13i"
"0000901204" "00001847" "70" "5898" "5" "5898" "5" "c.5898+5G>A" "r.[=,5898_5899ins_5899+1_5890-1,5898_5899ins5899+1_5899+170]" "p.[=,Cys1967Valfs*24]" "42i"
"0000901205" "00001847" "90" "699" "0" "768" "341" "c.699_768+341del" "r.(?)" "p.(Gln234Phefs*5)" "6_6i"
"0000901206" "00001847" "50" "466" "0" "466" "0" "c.466A>G" "r.(?)" "p.(Ile156Val)" "5"
"0000901207" "00001847" "70" "194" "0" "194" "0" "c.194G>A" "r.(?)" "p.(Gly65Glu)" "3"
"0000901208" "00001847" "90" "1555" "-3491" "1938" "-83" "c.1555-3491_1938-83delins1734_1761-107inv" "r.(?)" "p.(?)" "11i_13i"
"0000901209" "00001847" "50" "4248" "0" "4248" "0" "c.4248C>A" "r.(?)" "p.(Phe1416Leu)" "28"
"0000901210" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000901211" "00001847" "70" "4539" "2028" "4539" "2028" "c.4539+2028C>T" "r.[=,4539_4540ins[4539+1891_4539+2027;u;4539+2029_4540-2162]]" "p.[=,Arg1514Leufs*36]" "30i"
"0000901212" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901213" "00001847" "90" "4537" "0" "4537" "0" "c.4537dup" "r.(?)" "p.(Gln1513Profs*42)" "30"
"0000901214" "00001847" "70" "769" "-784" "769" "-784" "c.769-784C>T" "r.[=,768_769ins769-617_769-778]" "p.[=,Leu257Aspfs*3]" "6i"
"0000901215" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901216" "00001847" "70" "859" "-9" "859" "-9" "c.859-9T>C" "r.[=,859_1356del]" "p.[=,Phe287_Arg452del]" "7i"
"0000901217" "00001847" "90" "1555" "-2428" "2161" "-101" "c.1555-2428_2161-101delins2160+7_2160+230invATGAATGins" "r.(?)" "p.(?)" ""
"0000901218" "00001847" "70" "1531" "0" "1531" "0" "c.1531C>T" "r.(?)" "p.(Arg511Cys)" "11"
"0000901219" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000901220" "00001847" "70" "6082" "0" "6082" "0" "c.6082A>G" "r.(?)" "p.(Thr2028Ala)" "44"
"0000901221" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901222" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000901223" "00001847" "70" "6082" "0" "6082" "0" "c.6082A>G" "r.(?)" "p.(Thr2028Ala)" "44"
"0000901224" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901225" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000901226" "00001847" "90" "2041" "0" "2041" "0" "c.2041C>T" "r.(?)" "p.(Arg681*)" "14"
"0000901227" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901228" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000901229" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000901230" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901231" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000901232" "00001847" "90" "1644" "0" "1644" "0" "c.1644G>A" "r.(?)" "p.(Trp548*)" "12"
"0000901233" "00001847" "90" "3259" "0" "3259" "0" "c.3259G>A" "r.(?)" "p.(Glu1087Lys)" "22"
"0000901234" "00001847" "70" "179" "0" "179" "0" "c.179C>G" "r.(?)" "p.(Ala60Gly)" "3"
"0000901235" "00001847" "90" "3259" "0" "3259" "0" "c.3259G>A" "r.(?)" "p.(Glu1087Lys)" "22"
"0000901236" "00001847" "70" "179" "0" "179" "0" "c.179C>G" "r.(?)" "p.(Ala60Gly)" "3"
"0000901237" "00001847" "70" "5318" "0" "5318" "0" "c.5318C>T" "r.(?)" "p.(Ala1773Val)" "38"
"0000901238" "00001847" "70" "1958" "0" "1958" "0" "c.1958G>A" "r.(?)" "p.(Arg653His)" "14"
"0000901239" "00001847" "90" "5715" "-5" "5715" "-5" "c.5715-5T>G" "r.[5461_5714,5460_5715del_ins5715-4_5715-1,=]" "p.[Thr1821Serfs*34,=]" "40i"
"0000901240" "00001847" "90" "4254" "-197" "4672" "0" "c.4254-197_4672delinsGCTTTTT" "r.(?)" "p.(?)" "28i_33"
"0000901241" "00001847" "90" "3259" "0" "3259" "0" "c.3259G>A" "r.(?)" "p.(Glu1087Lys)" "22"
"0000901242" "00001847" "50" "4225" "0" "4225" "0" "c.4225A>G" "r.(?)" "p.(Ile1409Val)" "28"
"0000901243" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000901244" "00001847" "90" "5715" "-5" "5715" "-5" "c.5715-5T>G" "r.[5461_5714,5460_5715del_ins5715-4_5715-1,=]" "p.[Thr1821Serfs*34,=]" "40i"
"0000901245" "00001847" "50" "1964" "0" "1964" "0" "c.1964T>G" "r.(?)" "p.(Phe655Cys)" "14"
"0000901246" "00001847" "50" "2690" "0" "2690" "0" "c.2690C>T" "r.(?)" "p.(Thr897Ile)" "18"
"0000901247" "00001847" "70" "5640" "0" "5640" "0" "c.5640T>A" "r.(?)" "p.(Phe1880Leu)" "40"
"0000901248" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000901249" "00001847" "70" "161" "0" "161" "0" "c.161G>A" "r.[161_302del,161g>a]" "p.[Cys54Serfs*14,Cys54Tyr]" "3"
"0000901250" "00001847" "70" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" "31"
"0000901251" "00001847" "90" "2564" "0" "2564" "0" "c.2564G>A" "r.(?)" "p.(Trp855*)" "16"
"0000901252" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901253" "00001847" "90" "454" "0" "454" "0" "c.454C>T" "r.(?)" "p.(Arg152*)" "5"
"0000901254" "00001847" "50" "6148" "0" "6148" "0" "c.6148G>C" "r.=" "p.(Val2050Leu)" "45"
"0000901255" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000901256" "00001847" "90" "4537" "0" "4537" "0" "c.4537dup" "r.(?)" "p.(Gln1513Profs*42)" "30"
"0000901257" "00001847" "90" "5312" "1" "5312" "1" "c.5312+1G>A" "r.spl" "p.(?)" "37i"
"0000901258" "00001847" "70" "6730" "-1" "6823" "0" "c.(6729+1_6730-1)_(*1_?)del" "r.(?)" "p.(?)" ""
"0000901259" "00001847" "90" "4234" "0" "4234" "0" "c.4234C>T" "r.(?)" "p.(Gln1412*)" "28"
"0000901260" "00001847" "50" "6721" "0" "6721" "0" "c.6721C>G" "r.(?)" "p.(Leu2241Val)" "48"
"0000901261" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901262" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000901263" "00001847" "70" "5572" "0" "5572" "0" "c.5572T>A" "r.(?)" "p.(Tyr1858Asn)" "39"
"0000901264" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000901265" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901266" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000901267" "00001847" "70" "1844" "0" "1844" "0" "c.1844T>C" "r.(?)" "p.(Val615Ala)" "13"
"0000901268" "00001847" "90" "4234" "0" "4234" "0" "c.4234C>T" "r.(?)" "p.(Gln1412*)" "28"
"0000901269" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000901270" "00001847" "90" "2564" "0" "2564" "0" "c.2564G>A" "r.(?)" "p.(Trp855*)" "16"
"0000901271" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000901272" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000901273" "00001847" "70" "4253" "43" "4253" "43" "c.4253+43G>A" "r.[=,4129_4253del]" "p.[=,Ile1377Hisfs*3]" "28i"
"0000901274" "00001847" "90" "454" "0" "454" "0" "c.454C>T" "r.(?)" "p.(Arg152*)" "5"
"0000901275" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000901276" "00001847" "90" "1302" "0" "1302" "0" "c.1302del" "r.(?)" "p.(Gln437Argfs*12)" "10"
"0000901277" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000901278" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000901279" "00001847" "90" "6816" "2" "6816" "2" "c.6816+2T>A" "r.spl" "p.(?)" "49i"
"0000901280" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000901281" "00001847" "90" "6189" "0" "6189" "0" "c.6189C>A" "r.(?)" "p.(Tyr2063*)" "45"
"0000901282" "00001847" "70" "5380" "0" "5380" "0" "c.5380G>C" "r.(?)" "p.(Ala1794Pro)" "38"
"0000901283" "00001847" "90" "6088" "0" "6088" "0" "c.6088C>T" "r.(?)" "p.(Arg2030*)" "44"
"0000901284" "00001847" "70" "4462" "0" "4462" "0" "c.4462T>C" "r.(?)" "p.(Cys1488Arg)" "30"
"0000901285" "00001847" "70" "4462" "0" "4462" "0" "c.4462T>C" "r.(?)" "p.(Cys1488Arg)" "30"
"0000901286" "00001847" "70" "4979" "0" "4979" "0" "c.4979C>T" "r.(?)" "p.(Pro1660Leu)" "35"
"0000901287" "00001847" "90" "1677" "0" "1677" "0" "c.1677G>A" "r.(?)" "p.(Trp559*)" "12"
"0000901288" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000901289" "00001847" "70" "5113" "0" "5113" "0" "c.5113C>T" "r.(?)" "p.(Arg1705Trp)" "36"
"0000901290" "00001847" "70" "5113" "0" "5113" "0" "c.5113C>T" "r.(?)" "p.(Arg1705Trp)" "36"
"0000901291" "00001847" "90" "834" "0" "834" "0" "c.834del" "r.(?)" "p.(Asp279Ilefs*21)" "7"
"0000901292" "00001847" "70" "5380" "0" "5380" "0" "c.5380G>C" "r.(?)" "p.(Ala1794Pro)" "38"
"0000901293" "00001847" "70" "5380" "0" "5380" "0" "c.5380G>C" "r.(?)" "p.(Ala1794Pro)" "38"
"0000901294" "00001847" "70" "5380" "0" "5380" "0" "c.5380G>C" "r.(?)" "p.(Ala1794Pro)" "38"
"0000901295" "00001847" "70" "5380" "0" "5380" "0" "c.5380G>C" "r.(?)" "p.(Ala1794Pro)" "38"
"0000901296" "00001847" "70" "1958" "0" "1958" "0" "c.1958G>T" "r.(?)" "p.(Arg653Leu)" "14"
"0000901297" "00001847" "70" "5380" "0" "5380" "0" "c.5380G>C" "r.(?)" "p.(Ala1794Pro)" "38"
"0000901298" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000901299" "00001847" "70" "6216" "0" "6216" "0" "c.6216T>G" "r.(?)" "p.(Ser2072Arg)" "45"
"0000901300" "00001847" "70" "4979" "0" "4979" "0" "c.4979C>T" "r.(?)" "p.(Pro1660Leu)" "35"
"0000901301" "00001847" "70" "4979" "0" "4979" "0" "c.4979C>T" "r.(?)" "p.(Pro1660Leu)" "35"
"0000901302" "00001847" "70" "4979" "0" "4979" "0" "c.4979C>T" "r.(?)" "p.(Pro1660Leu)" "35"
"0000901303" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000901304" "00001847" "90" "6088" "0" "6088" "0" "c.6088C>T" "r.(?)" "p.(Arg2030*)" "44"
"0000901305" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901306" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000901307" "00001847" "90" "6730" "-1" "6730" "-1" "c.6730-1G>C" "r.spl" "p.(?)" "48i"
"0000901308" "00001847" "50" "4225" "0" "4225" "0" "c.4225A>G" "r.(?)" "p.(Ile1409Val)" "28"
"0000901309" "00001847" "70" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" "31"
"0000901310" "00001847" "50" "4225" "0" "4225" "0" "c.4225A>G" "r.(?)" "p.(Ile1409Val)" "28"
"0000901311" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901312" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000901313" "00001847" "70" "161" "0" "161" "0" "c.161G>A" "r.[161_302del,161g>a]" "p.[Cys54Serfs*14,Cys54Tyr]" "3"
"0000901314" "00001847" "70" "67" "-2023" "67" "-2023" "c.67-2023T>G" "r.[66_67ins67-2266_67-2024,=]" "p.[IIe23IIefs*30,=]" "1i"
"0000901315" "00001847" "70" "859" "-9" "859" "-9" "c.859-9T>C" "r.[=,859_1356del]" "p.[=,Phe287_Arg452del]" "7i"
"0000901316" "00001847" "70" "1958" "0" "1958" "0" "c.1958G>A" "r.(?)" "p.(Arg653His)" "14"
"0000901317" "00001847" "70" "1016" "0" "1016" "0" "c.1016G>T" "r.(?)" "p.(Trp339Leu)" "8"
"0000901318" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901319" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000901320" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000901321" "00001847" "90" "5196" "1" "5196" "1" "c.5196+1G>A" "r.spl" "p.(?)" "36i"
"0000901322" "00001847" "90" "752" "0" "752" "0" "c.752del" "r.(?)" "p.(Phe251Serfs*11)" "6"
"0000901323" "00001847" "70" "4687" "0" "4687" "0" "c.4687G>A" "r.(?)" "p.(Gly1563Arg)" "33"
"0000901324" "00001847" "50" "1140" "0" "1140" "0" "c.1140T>A" "r.(?)" "p.(Asn380Lys)" "9"
"0000901325" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000901326" "00001847" "70" "2549" "0" "2549" "0" "c.2549A>G" "r.(?)" "p.(Tyr850Cys)" "16"
"0000901327" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000901328" "00001847" "90" "2041" "0" "2041" "0" "c.2041C>T" "r.(?)" "p.(Arg681*)" "14"
"0000901329" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000901330" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000901331" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901332" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000901333" "00001847" "70" "4964" "0" "4964" "0" "c.4964C>T" "r.(?)" "p.(Thr1655Ile)" "35"
"0000901334" "00001847" "50" "5177" "0" "5177" "0" "c.5177C>A" "r.(?)" "p.(Thr1726Asn)" "36"
"0000901335" "00001847" "70" "4253" "43" "4253" "43" "c.4253+43G>A" "r.[=,4129_4253del]" "p.[=,Ile1377Hisfs*3]" "28i"
"0000901336" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901337" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901338" "00001847" "70" "4253" "43" "4253" "43" "c.4253+43G>A" "r.[=,4129_4253del]" "p.[=,Ile1377Hisfs*3]" "28i"
"0000901339" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000901340" "00001847" "70" "4712" "0" "4712" "0" "c.4712T>A" "r.(?)" "p.(Ile1571Asn)" "33"
"0000901341" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901342" "00001847" "70" "3071" "0" "3071" "0" "c.3071T>A" "r.(?)" "p.(Met1024Lys)" "21"
"0000901343" "00001847" "90" "6445" "0" "6445" "0" "c.6445C>T" "r.(?)" "p.(Arg2149*)" "47"
"0000901344" "00001847" "90" "1957" "0" "1957" "0" "c.1957C>T" "r.(?)" "p.(Arg653Cys)" "14"
"0000901345" "00001847" "70" "3682" "0" "3682" "0" "c.3682G>A" "r.(?)" "p.(Glu1228Lys)" "25"
"0000901346" "00001847" "70" "6397" "0" "6397" "0" "c.6397T>C" "r.(?)" "p.(Cys2133Arg)" "47"
"0000901347" "00001847" "90" "1906" "0" "1906" "0" "c.1906C>T" "r.(?)" "p.(Gln636*)" "13"
"0000901348" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901349" "00001847" "90" "2347" "0" "2347" "0" "c.2347C>T" "r.(?)" "p.(Gln783*)" "15"
"0000901350" "00001847" "90" "571" "-801" "768" "3062" "c.571-801_768+3062del" "r.(?)" "p.(?)" "5i_6i"
"0000901351" "00001847" "50" "5578" "0" "5578" "0" "c.5578C>T" "r.(?)" "p.(Arg1860Trp)" "39"
"0000901352" "00001847" "90" "5337" "0" "5337" "0" "c.5337C>A" "r.(?)" "p.(Tyr1779*)" "38"
"0000901353" "00001847" "50" "5578" "0" "5578" "0" "c.5578C>T" "r.(?)" "p.(Arg1860Trp)" "39"
"0000901354" "00001847" "90" "5337" "0" "5337" "0" "c.5337C>A" "r.(?)" "p.(Tyr1779*)" "38"
"0000901355" "00001847" "50" "5578" "0" "5578" "0" "c.5578C>T" "r.(?)" "p.(Arg1860Trp)" "39"
"0000901356" "00001847" "70" "2549" "0" "2549" "0" "c.2549A>G" "r.(?)" "p.(Tyr850Cys)" "16"
"0000901357" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000901358" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000901359" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000901360" "00001847" "90" "5337" "0" "5337" "0" "c.5337C>A" "r.(?)" "p.(Tyr1779*)" "38"
"0000901361" "00001847" "50" "5578" "0" "5578" "0" "c.5578C>T" "r.(?)" "p.(Arg1860Trp)" "39"
"0000901362" "00001847" "70" "2431" "0" "2431" "0" "c.2431C>T" "r.(?)" "p.(Arg811Cys)" "16"
"0000901363" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000901364" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901365" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000901366" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000901367" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901368" "00001847" "90" "2587" "2" "2587" "2" "c.2587+2T>C" "r.spl" "p.(?)" "16i"
"0000901369" "00001847" "90" "4537" "0" "4537" "0" "c.4537dup" "r.(?)" "p.(Gln1513Profs*42)" "30"
"0000901370" "00001847" "70" "161" "0" "161" "0" "c.161G>A" "r.[161_302del,161g>a]" "p.[Cys54Serfs*14,Cys54Tyr]" "3"
"0000901371" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000901372" "00001847" "70" "4696" "0" "4696" "0" "c.4696C>T" "r.(?)" "p.(Leu1566Phe)" "33"
"0000901373" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000901374" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901375" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901376" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000901377" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901378" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901379" "00001847" "70" "286" "0" "286" "0" "c.286A>G" "r.(?)" "p.(Asn96Asp)" "3"
"0000901380" "00001847" "70" "3386" "0" "3386" "0" "c.3386G>A" "r.(?)" "p.(Arg1129His)" "23"
"0000901381" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901382" "00001847" "70" "1648" "0" "1648" "0" "c.1648G>A" "r.(?)" "p.(Gly550Arg)" "12"
"0000901383" "00001847" "70" "1648" "0" "1648" "0" "c.1648G>A" "r.(?)" "p.(Gly550Arg)" "12"
"0000901384" "00001847" "90" "4320" "0" "4320" "0" "c.4320del" "r.(?)" "p.(Phe1440Leufs*6)" "29"
"0000901385" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000901386" "00001847" "90" "1643" "0" "1643" "0" "c.1643G>A" "r.(?)" "p.(Trp548*)" "12"
"0000901387" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901388" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000901389" "00001847" "90" "3056" "0" "3056" "0" "c.3056C>T" "r.(?)" "p.(Thr1019Met)" "21"
"0000901390" "00001847" "70" "4253" "43" "4253" "43" "c.4253+43G>A" "r.[=,4129_4253del]" "p.[=,Ile1377Hisfs*3]" "28i"
"0000901391" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000901392" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000901393" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000901394" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901395" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901396" "00001847" "90" "2888" "0" "2888" "0" "c.2888del" "r.(?)" "p.(Gly963Alafs*14)" "19"
"0000901397" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901398" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901399" "00001847" "70" "3364" "0" "3364" "0" "c.3364G>A" "r.(?)" "p.(Glu1122Lys)" "23"
"0000901400" "00001847" "90" "92" "0" "92" "0" "c.92G>A" "r.(?)" "p.(Trp31*)" "2"
"0000901401" "00001847" "70" "4253" "5" "4253" "5" "c.4253+5G>A" "r.4129_4253del" "p.(Ile1377Hisfs*3)" "28i"
"0000901402" "00001847" "50" "869" "0" "869" "0" "c.869G>A" "r.(?)" "p.(Arg290Gln)" "8"
"0000901403" "00001847" "90" "4634" "741" "4634" "741" "c.4634+741A>G" "r.[4634_46354ins634+614_4634+740,=]" "p.[Ser1545Serfs*51,=]" "31i"
"0000901404" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000901405" "00001847" "90" "5461" "-6" "5461" "-6" "c.5461-6T>G" "r.5461_5714del" "p.(Thr1821Aspfs*6)" "38i"
"0000901406" "00001847" "70" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.[=,5196_5197ins5196+1140_5196+1212]" "p.[=,Met1733Glufs*78]" "36i"
"0000901407" "00001847" "90" "443" "-1218" "768" "1440" "c.443-1218_768+1440del" "r.(?)" "p.(?)" "4i_6i"
"0000901408" "00001847" "90" "1760" "2" "1760" "2" "c.1760+2T>G" "r.spl" "p.(?)" "12i"
"0000901409" "00001847" "90" "6386" "3" "6386" "3" "c.6386+3A>G" "r.[6386_6387ins6386+1_6387-1,6340_6386del,=]" "p.[Ser2129Serfs*29, Val2114Hisfs*4,=]" "46i"
"0000901410" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000901411" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901412" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000901413" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000901414" "00001847" "70" "5819" "0" "5819" "0" "c.5819T>C" "r.(?)" "p.(Leu1940Pro)" "41"
"0000901415" "00001847" "90" "4720" "0" "4720" "0" "c.4720G>T" "r.(?)" "p.(Glu1574*)" "33"
"0000901416" "00001847" "70" "1927" "0" "1927" "0" "c.1927G>A" "r.(?)" "p.(Val643Met)" "13"
"0000901417" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000901418" "00001847" "90" "4540" "-8" "4540" "-8" "c.4540-8T>A" "r.4539_4540ins4540-6_4540-1" "p.(Gln1513insProGln)" "30i"
"0000901419" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000901420" "00001847" "90" "3862" "1" "3862" "1" "c.3862+1G>A" "r.spl" "p.(?)" "26i"
"0000901421" "00001847" "70" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.[=,5196_5197ins5196+1140_5196+1212]" "p.[=,Met1733Glufs*78]" "36i"
"0000901422" "00001847" "70" "1648" "0" "1648" "0" "c.1648G>A" "r.(?)" "p.(Gly550Arg)" "12"
"0000901423" "00001847" "90" "3050" "370" "3050" "370" "c.3050+370C>T" "r.3050_3051ins3050+164_3050+368" "p.(Leu1018Glufs*4)" "20i"
"0000901424" "00001847" "70" "4919" "0" "4919" "0" "c.4919G>A" "r.(?)" "p.(Arg1640Gln)" "35"
"0000901425" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901426" "00001847" "70" "1918" "0" "1918" "0" "c.1918C>G" "r.(?)" "p.(Pro640Ala)" "13"
"0000901427" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000901428" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901429" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000901430" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000901431" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901432" "00001847" "90" "5175" "0" "5175" "0" "c.5175dup" "r.(?)" "p.(Thr1726Aspfs*61)" "36"
"0000901433" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000901434" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901435" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000901436" "00001847" "90" "4831" "0" "4831" "0" "c.4831del" "r.(?)" "p.(Thr1611Leufs*51)" "34"
"0000901437" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901438" "00001847" "90" "5175" "0" "5175" "0" "c.5175dup" "r.(?)" "p.(Thr1726Aspfs*61)" "36"
"0000901439" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000901440" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901441" "00001847" "90" "5175" "0" "5175" "0" "c.5175dup" "r.(?)" "p.(Thr1726Aspfs*61)" "36"
"0000901442" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000901443" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901444" "00001847" "90" "2041" "0" "2041" "0" "c.2041C>T" "r.(?)" "p.(Arg681*)" "14"
"0000901445" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901446" "00001847" "90" "2041" "0" "2041" "0" "c.2041C>T" "r.(?)" "p.(Arg681*)" "14"
"0000901447" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901448" "00001847" "70" "428" "0" "428" "0" "c.428C>T" "r.(?)" "p.(Pro143Leu)" "4"
"0000901449" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000901450" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901451" "00001847" "90" "2041" "0" "2041" "0" "c.2041C>T" "r.(?)" "p.(Arg681*)" "14"
"0000901452" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901453" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901454" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901455" "00001847" "90" "6088" "0" "6088" "0" "c.6088C>T" "r.(?)" "p.(Arg2030*)" "44"
"0000901456" "00001847" "70" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.[=,5196_5197ins5196+1140_5196+1212]" "p.[=,Met1733Glufs*78]" "36i"
"0000901457" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901458" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000901459" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000901460" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901461" "00001847" "70" "859" "-9" "859" "-9" "c.859-9T>C" "r.[=,859_1356del]" "p.[=,Phe287_Arg452del]" "7i"
"0000901462" "00001847" "70" "859" "-9" "859" "-9" "c.859-9T>C" "r.[=,859_1356del]" "p.[=,Phe287_Arg452del]" "7i"
"0000901463" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000901464" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000901465" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901466" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000901467" "00001847" "90" "4352" "61" "4352" "61" "c.4352+61G>A" "r.[4352_4353ins4352+1_4352+57,=]" "p.[Glu1452*,=]" "29i"
"0000901468" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000901469" "00001847" "90" "3529" "0" "3532" "0" "c.3529_3532dup" "r.(?)" "p.(Ser1178Metfs*6)" "24"
"0000901470" "00001847" "70" "1937" "435" "1937" "435" "c.1937+435C>G" "r.[=,1937_1938ins1937+396_1937+529]" "p.[=,Ser646Serfs*25]" "13i"
"0000901471" "00001847" "70" "2237" "0" "2237" "0" "c.2237T>A" "r.(?)" "p.(Met746Lys)" "15"
"0000901472" "00001847" "90" "3259" "0" "3259" "0" "c.3259G>A" "r.(?)" "p.(Glu1087Lys)" "22"
"0000901473" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901474" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901475" "00001847" "90" "2654" "-8" "2654" "-8" "c.2654-8T>G" "r.[2653_2654ins2654-40_2654-1,=]" "p.[Gly863Valfs*47,=]" "17i"
"0000901476" "00001847" "70" "3364" "0" "3364" "0" "c.3364G>A" "r.(?)" "p.(Glu1122Lys)" "23"
"0000901477" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000901478" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000901479" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901480" "00001847" "90" "570" "1798" "570" "1798" "c.570+1798A>G" "r.570_571ins570+1733_570+1797" "p.(Phe191Leufs*6)" "5i"
"0000901481" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000901482" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000901483" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901484" "00001847" "70" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.[=,5196_5197ins5196+1140_5196+1212]" "p.[=,Met1733Glufs*78]" "36i"
"0000901485" "00001847" "70" "6729" "5" "6729" "19" "c.6729+5_6729+19del" "r.6480_6729del" "p.(Phe2161Cysfs*3)" "48i"
"0000901486" "00001847" "70" "6729" "5" "6729" "19" "c.6729+5_6729+19del" "r.6480_6729del" "p.(Phe2161Cysfs*3)" "48i"
"0000901487" "00001847" "90" "2971" "0" "2971" "0" "c.2971G>C" "r.(?)" "p.(Gly991Arg)" "20"
"0000901488" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000901489" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000901490" "00001847" "70" "6221" "0" "6221" "0" "c.6221G>A" "r.(?)" "p.(Gly2074Asp)" "45"
"0000901491" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901492" "00001847" "50" "2617" "0" "2617" "0" "c.2617T>C" "r.(?)" "p.(Phe873Leu)" "17"
"0000901493" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000901494" "00001847" "70" "4129" "-3" "4129" "-3" "c.4129-3C>T" "r.[=,3864_4128del,4129_4253del,3864_4253del]" "p.[=,Ile1377Hisfs*3,Gly1288Aspfs*45]" "27i"
"0000901495" "00001847" "90" "2588" "-706" "2588" "-706" "c.2588-706C>T" "r.2587_2588ins2588-839_2588-708" "p.(Gly863Alafs*3)" "16i"
"0000901496" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901497" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000901498" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901499" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000901500" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000901501" "00001847" "90" "0" "0" "0" "0" "c.(2653+1_2654-1)_*400{0}" "r.?" "p.?" "17i_50_"
"0000901502" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901503" "00001847" "90" "4234" "0" "4234" "0" "c.4234C>T" "r.(?)" "p.(Gln1412*)" "28"
"0000901504" "00001847" "70" "6320" "0" "6320" "0" "c.6320G>C" "r.(?)" "p.(Arg2107Pro)" "46"
"0000901505" "00001847" "70" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.[=,5196_5197ins5196+1140_5196+1212]" "p.[=,Met1733Glufs*78]" "36i"
"0000901506" "00001847" "90" "699" "0" "768" "341" "c.699_768+341del" "r.(?)" "p.(Gln234Phefs*5)" "6_6i"
"0000901507" "00001847" "70" "2057" "0" "2057" "0" "c.2057T>C" "r.(?)" "p.(Leu686Ser)" "14"
"0000901508" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901509" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000901510" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901511" "00001847" "90" "950" "0" "950" "0" "c.950del" "r.(?)" "p.(Gly317Alafs*57)" "8"
"0000901512" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000901513" "00001847" "50" "4926" "0" "4926" "0" "c.4926C>G" "r.(?)" "p.(Ser1642Arg)" "35"
"0000901514" "00001847" "70" "6380" "0" "6380" "0" "c.6380C>T" "r.(?)" "p.(Ser2127Phe)" "46"
"0000901515" "00001847" "70" "5044" "0" "5058" "0" "c.5044_5058del" "r.(?)" "p.(Val1682_Val1686del)" "36"
"0000901516" "00001847" "90" "287" "0" "287" "0" "c.287del" "r.(?)" "p.(Asn96Thrfs*19)" "3"
"0000901517" "00001847" "90" "4537" "0" "4537" "0" "c.4537dup" "r.(?)" "p.(Gln1513Profs*42)" "30"
"0000901518" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000901519" "00001847" "90" "4537" "0" "4537" "0" "c.4537dup" "r.(?)" "p.(Gln1513Profs*42)" "30"
"0000901520" "00001847" "90" "4537" "0" "4537" "0" "c.4537dup" "r.(?)" "p.(Gln1513Profs*42)" "30"
"0000901521" "00001847" "70" "6788" "0" "6788" "0" "c.6788G>C" "r.(?)" "p.(Arg2263Pro)" "49"
"0000901522" "00001847" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408*)" "9"
"0000901523" "00001847" "70" "4253" "43" "4253" "43" "c.4253+43G>A" "r.[=,4129_4253del]" "p.[=,Ile1377Hisfs*3]" "28i"
"0000901524" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901525" "00001847" "90" "4848" "3" "4848" "3" "c.4848+3A>G" "r.4774_4848del" "p.(Gly1592_Lys1616del)" "34i"
"0000901526" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000901527" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000901528" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000901529" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901530" "00001847" "70" "4457" "0" "4457" "0" "c.4457C>T" "r.(?)" "p.(Pro1486Leu)" "30"
"0000901531" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000901532" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901533" "00001847" "70" "161" "0" "161" "0" "c.161G>A" "r.[161_302del,161g>a]" "p.[Cys54Serfs*14,Cys54Tyr]" "3"
"0000901534" "00001847" "70" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.[=,5196_5197ins5196+1140_5196+1212]" "p.[=,Met1733Glufs*78]" "36i"
"0000901535" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000901536" "00001847" "70" "4539" "2028" "4539" "2028" "c.4539+2028C>T" "r.[=,4539_4540ins[4539+1891_4539+2027;u;4539+2029_4540-2162]]" "p.[=,Arg1514Leufs*36]" "30i"
"0000901537" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000901538" "00001847" "70" "4539" "2028" "4539" "2028" "c.4539+2028C>T" "r.[=,4539_4540ins[4539+1891_4539+2027;u;4539+2029_4540-2162]]" "p.[=,Arg1514Leufs*36]" "30i"
"0000901539" "00001847" "70" "4253" "43" "4253" "43" "c.4253+43G>A" "r.[=,4129_4253del]" "p.[=,Ile1377Hisfs*3]" "28i"
"0000901540" "00001847" "70" "4363" "0" "4363" "0" "c.4363T>C" "r.(?)" "p.(Cys1455Arg)" "30"
"0000901541" "00001847" "50" "5693" "0" "5693" "0" "c.5693G>A" "r.(?)" "p.(Arg1898His)" "40"
"0000901542" "00001847" "70" "589" "0" "589" "0" "c.589G>C" "r.(?)" "p.(Asp197His)" "6"
"0000901543" "00001847" "70" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.[=,5196_5197ins5196+1140_5196+1212]" "p.[=,Met1733Glufs*78]" "36i"
"0000901544" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000901545" "00001847" "70" "4539" "2028" "4539" "2028" "c.4539+2028C>T" "r.[=,4539_4540ins[4539+1891_4539+2027;u;4539+2029_4540-2162]]" "p.[=,Arg1514Leufs*36]" "30i"
"0000901546" "00001847" "70" "6472" "0" "6472" "0" "c.6472A>G" "r.(?)" "p.(Lys2158Glu)" "47"
"0000901547" "00001847" "70" "4222" "0" "4222" "0" "c.4222T>C" "r.(?)" "p.(Trp1408Arg)" "28"
"0000901548" "00001847" "70" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" "35"
"0000901549" "00001847" "90" "735" "0" "735" "0" "c.735T>G" "r.(?)" "p.(Tyr245*)" "6"
"0000901550" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901551" "00001847" "70" "286" "0" "286" "0" "c.286A>C" "r.(?)" "p.(Asn96His)" "3"
"0000901552" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901553" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000901554" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901555" "00001847" "70" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" "31"
"0000901556" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901557" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000901558" "00001847" "70" "5929" "0" "5929" "0" "c.5929G>A" "r.(?)" "p.(Gly1977Ser)" "43"
"0000901559" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901560" "00001847" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408*)" "9"
"0000901561" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901562" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000901563" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901564" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000901565" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901566" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000901567" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901568" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000901569" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901570" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901571" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000901572" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901573" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901574" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901575" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000901576" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901577" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901578" "00001847" "70" "4539" "2028" "4539" "2028" "c.4539+2028C>T" "r.[=,4539_4540ins[4539+1891_4539+2027;u;4539+2029_4540-2162]]" "p.[=,Arg1514Leufs*36]" "30i"
"0000901579" "00001847" "70" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" "35"
"0000901580" "00001847" "70" "4222" "0" "4222" "0" "c.4222T>C" "r.(?)" "p.(Trp1408Arg)" "28"
"0000901581" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901582" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000901583" "00001847" "70" "4539" "2028" "4539" "2028" "c.4539+2028C>T" "r.[=,4539_4540ins[4539+1891_4539+2027;u;4539+2029_4540-2162]]" "p.[=,Arg1514Leufs*36]" "30i"
"0000901584" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901585" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000901586" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901587" "00001847" "50" "455" "0" "455" "0" "c.455G>A" "r.(?)" "p.(Arg152Gln)" "5"
"0000901588" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000901589" "00001847" "90" "4537" "0" "4537" "0" "c.4537dup" "r.(?)" "p.(Gln1513Profs*42)" "30"
"0000901590" "00001847" "70" "1805" "0" "1805" "0" "c.1805G>T" "r.(?)" "p.(Arg602Leu)" "13"
"0000901591" "00001847" "70" "3863" "-1064" "3863" "-1064" "c.3863-1064A>G" "splice defect" "p.(?)" "26i"
"0000901592" "00001847" "90" "4667" "1" "4667" "1" "c.4667+1G>A" "r.spl" "p.(?)" "32i"
"0000901593" "00001847" "50" "455" "0" "455" "0" "c.455G>A" "r.(?)" "p.(Arg152Gln)" "5"
"0000901594" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000901595" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901596" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000901597" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901598" "00001847" "90" "3056" "0" "3056" "0" "c.3056C>T" "r.(?)" "p.(Thr1019Met)" "21"
"0000901599" "00001847" "70" "67" "-2023" "67" "-2023" "c.67-2023T>G" "r.[66_67ins67-2266_67-2024,=]" "p.[IIe23IIefs*30,=]" "1i"
"0000901600" "00001847" "70" "5311" "0" "5311" "0" "c.5311G>A" "r.(?)" "p.(Gly1771Arg)" "37"
"0000901601" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901602" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901603" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901604" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000901605" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000901606" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000901607" "00001847" "90" "4234" "0" "4234" "0" "c.4234C>T" "r.(?)" "p.(Gln1412*)" "28"
"0000901608" "00001847" "90" "4234" "0" "4234" "0" "c.4234C>T" "r.(?)" "p.(Gln1412*)" "28"
"0000901609" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000901610" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000901611" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000901612" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000901613" "00001847" "70" "2291" "0" "2305" "0" "c.2291_2305del" "r.(?)" "p.(Cys764_Ile768del)" "15"
"0000901614" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000901615" "00001847" "90" "1903" "0" "1903" "0" "c.1903C>T" "r.(?)" "p.(Gln635*)" "13"
"0000901616" "00001847" "90" "5196" "1056" "5196" "1056" "c.5196+1056A>G" "r.5196_5197ins5196+880_5196+1056" "p.(Met1733Valfs*2)" "36i"
"0000901617" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000901618" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000901619" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000901620" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000901621" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000901622" "00001847" "70" "4070" "0" "4070" "0" "c.4070C>T" "r.(?)" "p.(Ala1357Val)" "27"
"0000901623" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000901624" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.768_769ins769+1_769+30" "p.(Leu257Valfs*17)" "6"
"0000901625" "00001847" "70" "5318" "0" "5318" "0" "c.5318C>T" "r.(?)" "p.(Ala1773Val)" "38"
"0000901626" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000901627" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000901628" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000901629" "00001847" "90" "1561" "0" "1561" "0" "c.1561del" "r.(?)" "p.(Val521Serfs*47)" "12"
"0000901630" "00001847" "70" "6148" "-84" "6148" "-84" "c.6148-84A>T" "r.[=,6147_6148ins6148-262_6148-90,6006_6147delins6148-310_6148-90,6148_6149del]" "p.[=,Val2050Valfs*68,Ile2003Hisfs*30, Val2050_Leu2094del]" "44i"
"0000901631" "00001847" "90" "5312" "1" "5312" "1" "c.5312+1G>A" "r.spl" "p.(?)" "37i"
"0000901632" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000901633" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000901634" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901635" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000901636" "00001847" "50" "656" "0" "656" "0" "c.656G>C" "r.(?)" "p.(Arg219Thr)" "6"
"0000901637" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000901638" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000901639" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901640" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000901641" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000901642" "00001847" "90" "5196" "1056" "5196" "1056" "c.5196+1056A>G" "r.5196_5197ins5196+880_5196+1056" "p.(Met1733Valfs*2)" "36i"
"0000901643" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000901644" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000901645" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901646" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901647" "00001847" "70" "4919" "0" "4919" "0" "c.4919G>A" "r.(?)" "p.(Arg1640Gln)" "35"
"0000901648" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000901649" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000901650" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000901651" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000901652" "00001847" "90" "1903" "0" "1903" "0" "c.1903C>T" "r.(?)" "p.(Gln635*)" "13"
"0000901653" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000901654" "00001847" "90" "4234" "0" "4234" "0" "c.4234C>T" "r.(?)" "p.(Gln1412*)" "28"
"0000901655" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000901656" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000901657" "00001847" "70" "4919" "0" "4919" "0" "c.4919G>A" "r.(?)" "p.(Arg1640Gln)" "35"
"0000901658" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000901659" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000901660" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000901661" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000901662" "00001847" "70" "3862" "0" "3862" "0" "c.3862G>A" "r.[3863g>a,3814_3862del]" "p.[=,Gly1288Ser,Ile1272Valfs*101]" "26"
"0000901663" "00001847" "90" "5196" "1056" "5196" "1056" "c.5196+1056A>G" "r.5196_5197ins5196+880_5196+1056" "p.(Met1733Valfs*2)" "36i"
"0000901664" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000901665" "00001847" "90" "4234" "0" "4234" "0" "c.4234C>T" "r.(?)" "p.(Gln1412*)" "28"
"0000901666" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901667" "00001847" "90" "6445" "0" "6445" "0" "c.6445C>T" "r.(?)" "p.(Arg2149*)" "47"
"0000901668" "00001847" "90" "6445" "0" "6445" "0" "c.6445C>T" "r.(?)" "p.(Arg2149*)" "47"
"0000901669" "00001847" "90" "1317" "0" "1317" "0" "c.1317G>A" "r.(?)" "p.(Trp439*)" "10"
"0000901670" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901671" "00001847" "50" "868" "0" "868" "0" "c.868C>T" "r.(?)" "p.(Arg290Trp)" "8"
"0000901672" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901673" "00001847" "70" "4253" "43" "4253" "43" "c.4253+43G>A" "r.[=,4129_4253del]" "p.[=,Ile1377Hisfs*3]" "28i"
"0000901674" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901675" "00001847" "70" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" "44"
"0000901676" "00001847" "90" "5460" "1" "5460" "1" "c.5460+1G>A" "r.spl" "p.(?)" "38i"
"0000901677" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901678" "00001847" "70" "769" "-784" "769" "-784" "c.769-784C>T" "r.[=,768_769ins769-617_769-778]" "p.[=,Leu257Aspfs*3]" "6i"
"0000901679" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000901680" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000901681" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000901682" "00001847" "50" "5077" "0" "5077" "0" "c.5077G>A" "r.(?)" "p.(Val1693Ile)" "36"
"0000901683" "00001847" "90" "4234" "0" "4234" "0" "c.4234C>T" "r.(?)" "p.(Gln1412*)" "28"
"0000901684" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.768_769ins769+1_769+30" "p.(Leu257Valfs*17)" "6"
"0000901685" "00001847" "70" "4539" "2001" "4539" "2001" "c.4539+2001G>A" "r.[=,4539_4540ins4539+1891_4540-2162]" "p.[=,Arg1514Leufs*36]" "30i"
"0000901686" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.768_769ins769+1_769+30" "p.(Leu257Valfs*17)" "6"
"0000901687" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901688" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.768_769ins769+1_769+30" "p.(Leu257Valfs*17)" "6"
"0000901689" "00001847" "70" "1822" "0" "1822" "0" "c.1822T>A" "r.(?)" "p.(Phe608Ile)" "13"
"0000901690" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901691" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901692" "00001847" "90" "6309" "0" "6310" "0" "c.6309_6310del" "r.(?)" "p.(Gln2104Glyfs*30)" "46"
"0000901693" "00001847" "90" "6155" "0" "6155" "0" "c.6155del" "r.(?)" "p.(Asn2052Thrfs*9)" "45"
"0000901694" "00001847" "90" "5196" "1" "5196" "1" "c.5196+1G>T" "r.spl" "p.(?)" "36i"
"0000901695" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901696" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000901697" "00001847" "70" "859" "-506" "859" "-506" "c.859-506G>C" "r.[858_859ins859-503_859-447,=]" "p.[Phe287Thrfs*32,=]" "7i"
"0000901698" "00001847" "70" "3335" "0" "3335" "0" "c.3335C>A" "r.(?)" "p.(Thr1112Asn)" "23"
"0000901699" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901700" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901701" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000901702" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901703" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901704" "00001847" "70" "769" "-784" "769" "-784" "c.769-784C>T" "r.[=,768_769ins769-617_769-778]" "p.[=,Leu257Aspfs*3]" "6i"
"0000901705" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000901706" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901707" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901708" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000901709" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901710" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901711" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000901712" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901713" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901714" "00001847" "70" "3233" "0" "3233" "0" "c.3233G>A" "r.(?)" "p.(Gly1078Glu)" "22"
"0000901715" "00001847" "70" "4253" "43" "4253" "43" "c.4253+43G>A" "r.[=,4129_4253del]" "p.[=,Ile1377Hisfs*3]" "28i"
"0000901716" "00001847" "90" "3191" "-2" "3191" "0" "c.3191-2_3191del" "r.spl" "p.(?)" "21i_22"
"0000901717" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000901718" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901719" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000901720" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901721" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901722" "00001847" "70" "1822" "0" "1822" "0" "c.1822T>A" "r.(?)" "p.(Phe608Ile)" "13"
"0000901723" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901724" "00001847" "70" "1822" "0" "1822" "0" "c.1822T>A" "r.(?)" "p.(Phe608Ile)" "13"
"0000901725" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901726" "00001847" "70" "286" "0" "286" "0" "c.286A>G" "r.(?)" "p.(Asn96Asp)" "3"
"0000901727" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901728" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901729" "00001847" "90" "3259" "0" "3259" "0" "c.3259G>A" "r.(?)" "p.(Glu1087Lys)" "22"
"0000901730" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901731" "00001847" "70" "71" "0" "71" "0" "c.71G>A" "r.(?)" "p.(Arg24His)" "2"
"0000901732" "00001847" "70" "4253" "43" "4253" "43" "c.4253+43G>A" "r.[=,4129_4253del]" "p.[=,Ile1377Hisfs*3]" "28i"
"0000901733" "00001847" "90" "6005" "658" "6147" "757" "c.6005+658_6147+757delinsTTTAACAGTGTT" "r.(?)" "p.(?)" "43i_44i"
"0000901734" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000901735" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901736" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901737" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901738" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901739" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000901740" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901741" "00001847" "90" "3191" "-2" "3191" "0" "c.3191-2_3191del" "r.spl" "p.(?)" "21i_22"
"0000901742" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901743" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000901744" "00001847" "70" "859" "-546" "859" "-546" "c.859-546G>A" "r.[858_859ins859-545_859-685,=]" "p.[Phe287Tyrfs*33,=]" "7i"
"0000901745" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000901746" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901747" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901748" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000901749" "00001847" "50" "1928" "0" "1928" "0" "c.1928T>G" "r.(?)" "p.(Val643Gly)" "13"
"0000901750" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901751" "00001847" "90" "2243" "0" "2243" "0" "c.2243delinsTT" "r.(?)" "p.(Cys748Phefs*18)" "15"
"0000901752" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000901753" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901754" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901755" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.768_769ins769+1_769+30" "p.(Leu257Valfs*17)" "6"
"0000901756" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901757" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000901758" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901759" "00001847" "70" "1822" "0" "1822" "0" "c.1822T>A" "r.(?)" "p.(Phe608Ile)" "13"
"0000901760" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901761" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000901762" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901763" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901764" "00001847" "70" "859" "-506" "859" "-506" "c.859-506G>C" "r.[858_859ins859-503_859-447,=]" "p.[Phe287Thrfs*32,=]" "7i"
"0000901765" "00001847" "70" "4253" "43" "4253" "43" "c.4253+43G>A" "r.[=,4129_4253del]" "p.[=,Ile1377Hisfs*3]" "28i"
"0000901766" "00001847" "70" "4462" "0" "4462" "0" "c.4462T>C" "r.(?)" "p.(Cys1488Arg)" "30"
"0000901767" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901768" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901769" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000901770" "00001847" "70" "4253" "43" "4253" "43" "c.4253+43G>A" "r.[=,4129_4253del]" "p.[=,Ile1377Hisfs*3]" "28i"
"0000901771" "00001847" "70" "1937" "435" "1937" "435" "c.1937+435C>G" "r.[=,1937_1938ins1937+396_1937+529]" "p.[=,Ser646Serfs*25]" "13i"
"0000901772" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000901773" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000901774" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901775" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901776" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000901777" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000901778" "00001847" "90" "1937" "37" "1937" "37" "c.1937+37C>G" "r.1937_1938ins_1938+1_1938+36" "p.(Phe647*)" "13i"
"0000901779" "00001847" "70" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" "35"
"0000901780" "00001847" "90" "1937" "37" "1937" "37" "c.1937+37C>G" "r.1937_1938ins_1938+1_1938+36" "p.(Phe647*)" "13i"
"0000901781" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000901782" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901783" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000901784" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000901785" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901786" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000901787" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000901788" "00001847" "70" "6077" "0" "6077" "0" "c.6077T>C" "r.(?)" "p.(Leu2026Pro)" "44"
"0000901789" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901790" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901791" "00001847" "90" "4537" "0" "4537" "0" "c.4537del" "r.(?)" "p.(Gln1513Argfs*13)" "30"
"0000901792" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901793" "00001847" "50" "5908" "0" "5908" "0" "c.5908C>T" "r.(?)" "p.(Leu1970Phe)" "43"
"0000901794" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901795" "00001847" "70" "4347" "0" "4347" "0" "c.4347G>T" "r.(?)" "p.(Trp1449Cys)" "29"
"0000901796" "00001847" "90" "1555" "-1033" "1937" "615" "c.1555-1033_1937+615delinsAGC" "r.(?)" "p.(?)" "11i_13i"
"0000901797" "00001847" "70" "4539" "2028" "4539" "2028" "c.4539+2028C>T" "r.[=,4539_4540ins[4539+1891_4539+2027;u;4539+2029_4540-2162]]" "p.[=,Arg1514Leufs*36]" "30i"
"0000901798" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000901799" "00001847" "70" "4919" "0" "4919" "0" "c.4919G>A" "r.(?)" "p.(Arg1640Gln)" "35"
"0000901800" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901801" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901802" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000901803" "00001847" "90" "3289" "0" "3289" "0" "c.3289A>T" "r.(?)" "p.(Arg1097*)" "22"
"0000901804" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901805" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901806" "00001847" "50" "1654" "0" "1654" "0" "c.1654G>A" "r.(?)" "p.(Val552Ile)" "12"
"0000901807" "00001847" "70" "4253" "43" "4253" "43" "c.4253+43G>A" "r.[=,4129_4253del]" "p.[=,Ile1377Hisfs*3]" "28i"
"0000901808" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901809" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000901810" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901811" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000901812" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901813" "00001847" "90" "4234" "0" "4234" "0" "c.4234C>T" "r.(?)" "p.(Gln1412*)" "28"
"0000901814" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901815" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901816" "00001847" "90" "160" "2" "160" "2" "c.160+2T>C" "r.spl" "p.(?)" "2i"
"0000901817" "00001847" "70" "1938" "-621" "1938" "-621" "c.1938-621G>A" "r.[=,1937_1938ins1938-797_1938-624, 1937_1938ins[1937+396_1937+529;1938-797_1938-624]" "p.[=,Phe647Alafs*22,Phe647Serfs*22]" "13i"
"0000901818" "00001847" "90" "5189" "0" "5189" "0" "c.5189G>A" "r.(?)" "p.(Trp1730*)" "36"
"0000901819" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901820" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000901821" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901822" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000901823" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.768_769ins769+1_769+30" "p.(Leu257Valfs*17)" "6"
"0000901824" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901825" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901826" "00001847" "90" "4234" "0" "4234" "0" "c.4234C>T" "r.(?)" "p.(Gln1412*)" "28"
"0000901827" "00001847" "70" "6229" "0" "6229" "0" "c.6229C>T" "r.(?)" "p.(Arg2077Trp)" "45"
"0000901828" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901829" "00001847" "90" "6283" "-3" "6283" "-2" "c.6283-3_6283-2delinsAG" "r.(?)" "p.(?)" "45i"
"0000901830" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901831" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901832" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000901833" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901834" "00001847" "70" "4253" "43" "4253" "43" "c.4253+43G>A" "r.[=,4129_4253del]" "p.[=,Ile1377Hisfs*3]" "28i"
"0000901835" "00001847" "70" "1822" "0" "1822" "0" "c.1822T>A" "r.(?)" "p.(Phe608Ile)" "13"
"0000901836" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901837" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901838" "00001847" "90" "1357" "-2" "1357" "-2" "c.1357-2A>G" "r.spl" "p.(?)" "10i"
"0000901839" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901840" "00001847" "70" "4463" "0" "4463" "0" "c.4463G>A" "r.(?)" "p.(Cys1488Tyr)" "30"
"0000901841" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901842" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901843" "00001847" "90" "769" "-788" "769" "-788" "c.769-788A>T" "r.768_769ins769-778_769-617" "p.(Leu257Aspfs*3)" "6i"
"0000901844" "00001847" "90" "2160" "1" "2160" "1" "c.2160+1G>T" "r.spl" "p.(?)" "14i"
"0000901845" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901846" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.768_769ins769+1_769+30" "p.(Leu257Valfs*17)" "6"
"0000901847" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901848" "00001847" "70" "1793" "0" "1793" "0" "c.1793T>G" "r.(?)" "p.(Val598Gly)" "13"
"0000901849" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000901850" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000901851" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901852" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000901853" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000901854" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901855" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901856" "00001847" "70" "3272" "0" "3272" "0" "c.3272G>A" "r.(?)" "p.(Gly1091Glu)" "22"
"0000901857" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901858" "00001847" "90" "122" "0" "122" "0" "c.122G>A" "r.(?)" "p.(Trp41*)" "2"
"0000901859" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901860" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901861" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000901862" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901863" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000901864" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901865" "00001847" "50" "5693" "0" "5693" "0" "c.5693G>A" "r.(?)" "p.(Arg1898His)" "40"
"0000901866" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901867" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000901868" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000901869" "00001847" "50" "1654" "0" "1654" "0" "c.1654G>A" "r.(?)" "p.(Val552Ile)" "12"
"0000901870" "00001847" "90" "2160" "1" "2160" "1" "c.2160+1G>T" "r.spl" "p.(?)" "14i"
"0000901871" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901872" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901873" "00001847" "50" "4519" "0" "4519" "0" "c.4519G>A" "r.(?)" "p.(Gly1507Arg)" "30"
"0000901874" "00001847" "90" "6088" "0" "6088" "0" "c.6088C>T" "r.(?)" "p.(Arg2030*)" "44"
"0000901875" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901876" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000901877" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901878" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000901879" "00001847" "90" "1086" "0" "1086" "0" "c.1086T>A" "r.(?)" "p.(Tyr362*)" "8"
"0000901880" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901881" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901882" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901883" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901884" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000901885" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901886" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000901887" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901888" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901889" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901890" "00001847" "90" "1937" "1" "1937" "1" "c.1937+1G>A" "r.spl" "p.(?)" "13i"
"0000901891" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901892" "00001847" "70" "5549" "0" "5549" "0" "c.5549T>C" "r.(?)" "p.(Leu1850Pro)" "39"
"0000901893" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000901894" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901895" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000901896" "00001847" "70" "4253" "5" "4253" "5" "c.4253+5G>A" "r.4129_4253del" "p.(Ile1377Hisfs*3)" "28i"
"0000901897" "00001847" "90" "3149" "0" "3149" "0" "c.3149G>A" "r.(?)" "p.(Gly1050Asp)" "21"
"0000901898" "00001847" "50" "5693" "0" "5693" "0" "c.5693G>A" "r.(?)" "p.(Arg1898His)" "40"
"0000901899" "00001847" "90" "1937" "1" "1937" "1" "c.1937+1G>A" "r.spl" "p.(?)" "13i"
"0000901900" "00001847" "50" "4256" "0" "4256" "0" "c.4256T>C" "r.(?)" "p.(Met1419Thr)" "29"
"0000901901" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000901902" "00001847" "50" "2546" "0" "2546" "0" "c.2546T>C" "r.(?)" "p.(Val849Ala)" "16"
"0000901903" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901904" "00001847" "50" "4909" "0" "4909" "0" "c.4909G>A" "r.(?)" "p.(Ala1637Thr)" "35"
"0000901905" "00001847" "90" "4537" "0" "4537" "0" "c.4537del" "r.(?)" "p.(Gln1513Argfs*13)" "30"
"0000901906" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901907" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901908" "00001847" "70" "769" "-784" "769" "-784" "c.769-784C>T" "r.[=,768_769ins769-617_769-778]" "p.[=,Leu257Aspfs*3]" "6i"
"0000901909" "00001847" "90" "5313" "-2" "5313" "-2" "c.5313-2del" "r.(spl?)" "p.(?)" "37i"
"0000901910" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901911" "00001847" "70" "4070" "0" "4070" "0" "c.4070C>T" "r.(?)" "p.(Ala1357Val)" "27"
"0000901912" "00001847" "90" "4537" "0" "4537" "0" "c.4537dup" "r.(?)" "p.(Gln1513Profs*42)" "30"
"0000901913" "00001847" "70" "4633" "0" "4633" "0" "c.4633A>G" "r.=" "p.(=)" "31"
"0000901914" "00001847" "70" "6449" "0" "6449" "0" "c.6449G>A" "r.(?)" "p.(Cys2150Tyr)" "47"
"0000901915" "00001847" "90" "950" "0" "950" "0" "c.950del" "r.(?)" "p.(Gly317Alafs*57)" "8"
"0000901916" "00001847" "50" "6148" "0" "6148" "0" "c.6148G>C" "r.=" "p.(Val2050Leu)" "45"
"0000901917" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901918" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901919" "00001847" "90" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071Cysfs*14)" "22"
"0000901920" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901921" "00001847" "50" "574" "0" "574" "0" "c.574G>A" "r.(?)" "p.(Ala192Thr)" "6"
"0000901922" "00001847" "70" "3344" "0" "3344" "0" "c.3344T>C" "r.(?)" "p.(Met1115Thr)" "23"
"0000901923" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000901924" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901925" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901926" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901927" "00001847" "70" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" "44"
"0000901928" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000901929" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000901930" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000901931" "00001847" "70" "161" "-23" "161" "-23" "c.161-23T>G" "r.[=,161_302del]" "p.[=,Cys54Serfs*14]" "2i"
"0000901932" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901933" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901934" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901935" "00001847" "50" "466" "0" "466" "0" "c.466A>G" "r.(?)" "p.(Ile156Val)" "5"
"0000901936" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901937" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000901938" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901939" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901940" "00001847" "70" "6254" "0" "6254" "0" "c.6254T>C" "r.(?)" "p.(Leu2085Pro)" "45"
"0000901941" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901942" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000901943" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901944" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000901945" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901946" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901947" "00001847" "90" "6316" "0" "6316" "0" "c.6316C>T" "r.(?)" "p.(Arg2106Cys)" "46"
"0000901948" "00001847" "70" "1015" "0" "1015" "0" "c.1015T>G" "r.(?)" "p.(Trp339Gly)" "8"
"0000901949" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901950" "00001847" "90" "4539" "2064" "4539" "2064" "c.4539+2064C>T" "r.[=,4539_4540ins4539+1891_4540-2162]" "p.[=,Arg1514Leufs*36]" "30i"
"0000901951" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901952" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000901953" "00001847" "70" "1015" "0" "1015" "0" "c.1015T>G" "r.(?)" "p.(Trp339Gly)" "8"
"0000901954" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901955" "00001847" "70" "1015" "0" "1015" "0" "c.1015T>G" "r.(?)" "p.(Trp339Gly)" "8"
"0000901956" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901957" "00001847" "90" "3296" "0" "3296" "0" "c.3296C>G" "r.(?)" "p.(Ser1099*)" "22"
"0000901958" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901959" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.[2588g>c,2588_2590del]" "p.[Gly863Ala,Gly863del]" "17"
"0000901960" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901961" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901962" "00001847" "70" "4539" "2001" "4539" "2001" "c.4539+2001G>A" "r.[=,4539_4540ins4539+1891_4540-2162]" "p.[=,Arg1514Leufs*36]" "30i"
"0000901963" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901964" "00001847" "90" "1760" "1" "1760" "1" "c.1760+1G>A" "r.spl" "p.(?)" "12i"
"0000901965" "00001847" "70" "67" "-2023" "67" "-2023" "c.67-2023T>G" "r.[66_67ins67-2266_67-2024,=]" "p.[IIe23IIefs*30,=]" "1i"
"0000901966" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901967" "00001847" "70" "1015" "0" "1015" "0" "c.1015T>G" "r.(?)" "p.(Trp339Gly)" "8"
"0000901968" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901969" "00001847" "70" "6107" "0" "6107" "0" "c.6107A>G" "r.(?)" "p.(Tyr2036Cys)" "44"
"0000901970" "00001847" "70" "1958" "0" "1958" "0" "c.1958G>A" "r.(?)" "p.(Arg653His)" "14"
"0000901971" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901972" "00001847" "50" "4297" "0" "4297" "0" "c.4297G>A" "r.(?)" "p.(Val1433Ile)" "29"
"0000901973" "00001847" "50" "455" "0" "455" "0" "c.455G>A" "r.(?)" "p.(Arg152Gln)" "5"
"0000901974" "00001847" "90" "4234" "0" "4234" "0" "c.4234C>T" "r.(?)" "p.(Gln1412*)" "28"
"0000901975" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901976" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901977" "00001847" "90" "3329" "-1" "3329" "-1" "c.3329-1G>A" "r.spl" "p.(?)" "22i"
"0000901978" "00001847" "70" "4253" "43" "4253" "43" "c.4253+43G>A" "r.[=,4129_4253del]" "p.[=,Ile1377Hisfs*3]" "28i"
"0000901979" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.768_769ins769+1_769+30" "p.(Leu257Valfs*17)" "6"
"0000901980" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901981" "00001847" "50" "658" "0" "658" "0" "c.658C>T" "r.(?)" "p.(Arg220Cys)" "6"
"0000901982" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901983" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000901984" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000901985" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901986" "00001847" "90" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071Cysfs*14)" "22"
"0000901987" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901988" "00001847" "70" "560" "0" "560" "0" "c.560G>A" "r.(?)" "p.(Arg187His)" "5"
"0000901989" "00001847" "70" "1015" "0" "1015" "0" "c.1015T>G" "r.(?)" "p.(Trp339Gly)" "8"
"0000901990" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901991" "00001847" "70" "4253" "43" "4253" "43" "c.4253+43G>A" "r.[=,4129_4253del]" "p.[=,Ile1377Hisfs*3]" "28i"
"0000901992" "00001847" "70" "5509" "0" "5509" "0" "c.5509C>T" "r.(?)" "p.(Pro1837Ser)" "39"
"0000901993" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901994" "00001847" "90" "4706" "0" "4706" "0" "c.4706del" "r.(?)" "p.(Val1569Alafs*12)" "33"
"0000901995" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901996" "00001847" "90" "4537" "0" "4537" "0" "c.4537dup" "r.(?)" "p.(Gln1513Profs*42)" "30"
"0000901997" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000901998" "00001847" "90" "2571" "0" "2571" "0" "c.2571del" "r.(?)" "p.(Asp858Ilefs*43)" "16"
"0000901999" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000902000" "00001847" "70" "4253" "43" "4253" "43" "c.4253+43G>A" "r.[=,4129_4253del]" "p.[=,Ile1377Hisfs*3]" "28i"
"0000902001" "00001847" "70" "4222" "0" "4222" "0" "c.4222T>C" "r.(?)" "p.(Trp1408Arg)" "28"
"0000902002" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000902003" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000902004" "00001847" "90" "3667" "0" "3667" "0" "c.3667dup" "r.(?)" "p.(Glu1223Glyfs*14)" "25"
"0000902005" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000902006" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000902007" "00001847" "50" "6718" "0" "6718" "0" "c.6718A>G" "r.(?)" "p.(Thr2240Ala)" "48"
"0000902008" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000902009" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000902010" "00001847" "50" "5065" "0" "5065" "0" "c.5065T>C" "r.(?)" "p.(Ser1689Pro)" "36"
"0000902011" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000902012" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000902013" "00001847" "90" "5149" "0" "5149" "0" "c.5149G>T" "r.(?)" "p.(Gly1717*)" "36"
"0000902014" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000902015" "00001847" "70" "3608" "0" "3608" "0" "c.3608G>A" "r.[3608g>a,3608_3813del]" "p.[Gly1203Glu,Gly1203Aspfs*10]" "25"
"0000902016" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000902017" "00001847" "90" "1714" "0" "1714" "0" "c.1714C>T" "r.(?)" "p.(Arg572*)" "12"
"0000902018" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000902019" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.768_769ins769+1_769+30" "p.(Leu257Valfs*17)" "6"
"0000902020" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000902021" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000902022" "00001847" "90" "6601" "0" "6602" "0" "c.6601_6602del" "r.(?)" "p.(Arg2201Alafs*49)" "48"
"0000902023" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000902024" "00001847" "70" "5059" "0" "5059" "0" "c.5059A>T" "r.(?)" "p.(Ile1687Phe)" "36"
"0000902025" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000902026" "00001847" "70" "4919" "0" "4919" "0" "c.4919G>A" "r.(?)" "p.(Arg1640Gln)" "35"
"0000902027" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000902028" "00001847" "70" "6449" "0" "6449" "0" "c.6449G>A" "r.(?)" "p.(Cys2150Tyr)" "47"
"0000902943" "00001847" "50" "589" "0" "589" "0" "c.589G>C" "r.(?)" "p.(Asp197His)" ""
"0000902944" "00001847" "50" "635" "0" "635" "0" "c.635G>A" "r.(?)" "p.(Arg212His)" ""
"0000902945" "00001847" "50" "1268" "0" "1268" "0" "c.1268A>G" "r.(?)" "p.(His423Arg)" ""
"0000902946" "00001847" "50" "1269" "0" "1269" "0" "c.1269C>T" "r.(?)" "p.(His423=)" ""
"0000902947" "00001847" "50" "2701" "0" "2701" "0" "c.2701A>G" "r.(?)" "p.(Thr901Ala)" ""
"0000902948" "00001847" "50" "3495" "0" "3495" "0" "c.3495C>T" "r.(?)" "p.(Asn1165=)" ""
"0000902949" "00001847" "50" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" ""
"0000902950" "00001847" "50" "5206" "0" "5206" "0" "c.5206T>C" "r.(?)" "p.(Ser1736Pro)" ""
"0000902951" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000902952" "00001847" "50" "5682" "0" "5682" "0" "c.5682G>C" "r.(?)" "p.(Leu1894=)" ""
"0000902953" "00001847" "50" "5814" "0" "5814" "0" "c.5814A>G" "r.(?)" "p.(Leu1938=)" ""
"0000902954" "00001847" "50" "5843" "0" "5843" "0" "c.5843C>T" "r.(?)" "p.(Pro1948Leu)" ""
"0000902955" "00001847" "50" "5844" "0" "5844" "0" "c.5844A>G" "r.(?)" "p.(Pro1948=)" ""
"0000902956" "00001847" "50" "6069" "0" "6069" "0" "c.6069T>C" "r.(?)" "p.(Ile2023=)" ""
"0000902957" "00001847" "50" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" ""
"0000902958" "00001847" "50" "302" "26" "302" "26" "c.302+26A>G" "r.(?)" "p.?" ""
"0000902959" "00001847" "50" "1240" "-14" "1240" "-14" "c.1240-14C>T" "r.(?)" "p.?" ""
"0000902960" "00001847" "50" "1356" "10" "1356" "10" "c.1356+10del" "r.(?)" "p.?" ""
"0000902961" "00001847" "50" "2653" "32" "2653" "32" "c.2653+32T>A" "r.(?)" "p.?" ""
"0000902962" "00001847" "50" "2653" "33" "2653" "33" "c.2653+33G>A" "r.(?)" "p.?" ""
"0000902963" "00001847" "50" "4353" "-4" "4353" "-4" "c.4353-4T>C" "r.(?)" "p.?" ""
"0000902964" "00001847" "50" "5836" "-43" "5836" "-43" "c.5836-43C>A" "r.(?)" "p.?" ""
"0000902965" "00001847" "50" "5836" "-11" "5836" "-11" "c.5836-11G>A" "r.(?)" "p.?" ""
"0000902966" "00001847" "50" "6006" "-16" "6006" "-16" "c.6006-16G>A" "r.(?)" "p.?" ""
"0000902967" "00001847" "50" "7191" "0" "7191" "0" "c.*369G>A" "r.(?)" "p.?" ""
"0000902972" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.(768_769ins769+1_769+30)" "p.(Leu257Valfs*17)" "6"
"0000902973" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.(768_769ins769+1_769+30)" "p.(Leu257Valfs*17)" "6"
"0000902974" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.(2588g>c,2588_2590del)" "p.(Gly863Ala,Gly863del)" "17"
"0000902975" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.(2588g>c,2588_2590del)" "p.(Gly863Ala,Gly863del)" "17"
"0000902976" "00001847" "90" "1496" "0" "1496" "0" "c.1496G>A" "r.(?)" "p.(Trp499Ter)" "11"
"0000902977" "00001847" "90" "1496" "0" "1496" "0" "c.1496G>A" "r.(?)" "p.(Trp499Ter)" "11"
"0000902978" "00001847" "90" "4539" "2028" "4539" "2028" "c.4539+2028C>T" "r.4539_4540ins[4539+1891_4539+2027;u;4539+2029_4540-2162]" "p.Arg1514Leufs*36" "30i"
"0000902979" "00001847" "30" "5603" "0" "5603" "0" "c.5603A>T" "r.5603a>u" "p.Asn1868Ile" "40"
"0000902980" "00001847" "90" "4539" "2028" "4539" "2028" "c.4539+2028C>T" "r.4539_4540ins[4539+1891_4539+2027;u;4539+2029_4540-2162]" "p.Arg1514Leufs*36" "30i"
"0000902981" "00001847" "30" "455" "0" "455" "0" "c.455G>A" "r.(?)" "p.(Arg152Gln)" "5"
"0000902982" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.(768_769ins769+1_769+30)" "p.(Leu257Valfs*17)" "6"
"0000902983" "00001847" "90" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" "31"
"0000902984" "00001847" "90" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" "31"
"0000902985" "00001847" "90" "4919" "0" "4919" "0" "c.4919G>A" "r.[4849_4920del,4919g>a]" "p.[Val1617_Arg1640del,Arg1640Gln]" "35"
"0000902986" "00001847" "90" "4919" "0" "4919" "0" "c.4919G>A" "r.[4849_4920del,4919g>a]" "p.[Val1617_Arg1640del,Arg1640Gln]" "35"
"0000902987" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.(768_769ins769+1_769+30)" "p.(Leu257Valfs*17)" "6"
"0000902988" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.(768_769ins769+1_769+30)" "p.(Leu257Valfs*17)" "6"
"0000902989" "00001847" "90" "2564" "0" "2564" "0" "c.2564G>A" "r.(?)" "p.(Trp855Ter)" "16"
"0000902990" "00001847" "90" "2564" "0" "2564" "0" "c.2564G>A" "r.(?)" "p.(Trp855Ter)" "16"
"0000902991" "00001847" "90" "2564" "0" "2564" "0" "c.2564G>A" "r.(?)" "p.(Trp855Ter)" "16"
"0000902992" "00001847" "90" "240" "0" "241" "0" "c.240_241del" "r.(?)" "p.(Cys81PhefsTer17)" "3"
"0000902993" "00001847" "90" "240" "0" "241" "0" "c.240_241del" "r.(?)" "p.(Cys81PhefsTer17)" "3"
"0000902994" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000902995" "00001847" "90" "5835" "1" "5835" "1" "c.5835+1G>A" "r.5835_5836insauaagggaaugg" "p.Lys1945_Ile1946insIleArgGluTrp" "41i"
"0000902996" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000902997" "00001847" "90" "499" "0" "499" "0" "c.499C>A" "r.(?)" "p.(Leu167Ile)" "5"
"0000902998" "00001847" "90" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" "31"
"0000902999" "00001847" "90" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" "31"
"0000903000" "00001847" "90" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" "31"
"0000903001" "00001847" "90" "517" "0" "517" "0" "c.517del" "r.(?)" "p.(Leu173CysfsTer9)" "5"
"0000903002" "00001847" "90" "4222" "0" "4222" "0" "c.4222T>C" "r.(?)" "p.(Trp1408Arg)" "28"
"0000903003" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000903004" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.(2588g>c,2588_2590del)" "p.(Gly863Ala,Gly863del)" "17"
"0000903005" "00001847" "30" "5603" "0" "5603" "0" "c.5603A>T" "r.5603a>u" "p.Asn1868Ile" "40"
"0000903006" "00001847" "90" "3109" "0" "3109" "0" "c.3109G>T" "r.(?)" "p.(Glu1037Ter)" "21"
"0000903007" "00001847" "90" "2626" "0" "2626" "0" "c.2626C>T" "r.(?)" "p.(Gln876Ter)" "17"
"0000903008" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000903009" "00001847" "90" "2041" "0" "2041" "0" "c.2041C>T" "r.(?)" "p.(Arg681Ter)" "14"
"0000903010" "00001847" "90" "2549" "0" "2549" "0" "c.2549A>G" "r.(?)" "p.(Tyr850Cys)" "16"
"0000903011" "00001847" "90" "858" "2" "858" "2" "c.858+2T>A" "r.spl" "p.?" "7i"
"0000903012" "00001847" "90" "2108" "0" "2108" "0" "c.2108A>G" "r.(?)" "p.(Asp703Gly)" "14"
"0000903013" "00001847" "90" "5197" "-4" "5197" "-4" "c.5197-4C>A" "r.5196_5197insag" "p.Met1733Argfs*2" "36i"
"0000903014" "00001847" "50" "859" "-25" "859" "-25" "c.859-25A>G" "r.spl" "p.[(Phe287Hisfs*7,Phe287Tyrfs*33,Phe287Leufs*3)]" "7i"
"0000903015" "00001847" "90" "2915" "0" "2915" "0" "c.2915C>A" "r.(?)" "p.(Thr972Asn)" "19"
"0000903016" "00001847" "90" "45" "0" "45" "0" "c.45G>A" "r.(?)" "p.(Trp15Ter)" "1"
"0000903017" "00001847" "90" "4222" "0" "4222" "0" "c.4222T>C" "r.(?)" "p.(Trp1408Arg)" "28"
"0000903018" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.(2588g>c,2588_2590del)" "p.(Gly863Ala,Gly863del)" "17"
"0000903019" "00001847" "90" "3190" "0" "3190" "0" "c.3190G>A" "r.=" "p.Gly1064Ser" "21"
"0000903020" "00001847" "90" "3190" "0" "3190" "0" "c.3190G>A" "r.=" "p.Gly1064Ser" "21"
"0000903021" "00001847" "90" "4670" "0" "4670" "0" "c.4670A>G" "r.(?)" "p.(Tyr1557Cys)" "33"
"0000903022" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Valfs*13,Thr1821Aspfs*6]" "38i"
"0000903023" "00001847" "90" "859" "-9" "859" "-9" "c.859-9T>C" "r.spl" "p.[(=,Phe287_Arg452del)]" "7i"
"0000903024" "00001847" "90" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" "31"
"0000903025" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.(2588g>c,2588_2590del)" "p.(Gly863Ala,Gly863del)" "17"
"0000903026" "00001847" "90" "1906" "0" "1906" "0" "c.1906C>T" "r.(?)" "p.(Gln636Ter)" "13"
"0000903027" "00001847" "90" "1253" "0" "1253" "0" "c.1253T>C" "r.(?)" "p.(Phe418Ser)" "10"
"0000903028" "00001847" "90" "1957" "0" "1957" "0" "c.1957C>T" "r.(?)" "p.(Arg653Cys)" "14"
"0000903029" "00001847" "90" "4320" "0" "4320" "0" "c.4320del" "r.(?)" "p.(Phe1440LeufsTer6)" "29"
"0000903030" "00001847" "90" "4320" "0" "4320" "0" "c.4320del" "r.(?)" "p.(Phe1440LeufsTer6)" "29"
"0000903031" "00001847" "90" "1643" "0" "1643" "0" "c.1643G>A" "r.(?)" "p.(Trp548Ter)" "12"
"0000903032" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000903033" "00001847" "90" "4469" "0" "4469" "0" "c.4469G>A" "r.[4469g>a,4467_4539del]" "p.[Cys1490Tyr,Cys1490Glufs*12]" "30"
"0000903034" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Valfs*13,Thr1821Aspfs*6]" "38i"
"0000903035" "00001847" "30" "455" "0" "455" "0" "c.455G>A" "r.(?)" "p.(Arg152Gln)" "5"
"0000903036" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Valfs*13,Thr1821Aspfs*6]" "38i"
"0000903037" "00001847" "90" "71" "0" "71" "0" "c.71G>A" "r.(?)" "p.(Arg24His)" "1"
"0000903038" "00001847" "90" "5715" "-39" "5715" "-39" "c.5715-39G>A" "r.spl?" "p.(?)" "40i"
"0000903039" "00001847" "90" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000903040" "00001847" "90" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000903041" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Valfs*13,Thr1821Aspfs*6]" "38i"
"0000903042" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Valfs*13,Thr1821Aspfs*6]" "38i"
"0000903043" "00001847" "90" "3617" "0" "3617" "0" "c.3617del" "r.(?)" "p.(Asn1206MetfsTer3)" "25"
"0000903044" "00001847" "90" "3617" "0" "3617" "0" "c.3617del" "r.(?)" "p.(Asn1206MetfsTer3)" "25"
"0000903045" "00001847" "90" "6031" "0" "6044" "0" "c.6031_6044delinsaguauuuaaccaauauuu" "c.6031_6044delinsaguauuuaaccaauauuu" "p.Ile2003Leufs*41" "44"
"0000903046" "00001847" "90" "6031" "0" "6044" "0" "c.6031_6044delinsAGTATTTAACCAATATTT" "c.6031_6044delinsaguauuuaaccaauauuu" "p.Ile2003Leufs*41" "44"
"0000903047" "00001847" "90" "6031" "0" "6044" "0" "c.6031_6044delinsAGTATTTAACCAATATTT" "c.6031_6044delinsaguauuuaaccaauauuu" "p.Ile2003Leufs*41" "44"
"0000903048" "00001847" "90" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000903049" "00001847" "90" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000903050" "00001847" "90" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000903051" "00001847" "90" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000903052" "00001847" "30" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000903053" "00001847" "30" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000903054" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000903055" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000903056" "00001847" "90" "5537" "0" "5537" "0" "c.5537T>A" "r.(?)" "p.(Ile1846Asn)" "39"
"0000903057" "00001847" "90" "5537" "0" "5537" "0" "c.5537T>A" "r.(?)" "p.(Ile1846Asn)" "39"
"0000903058" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Valfs*13,Thr1821Aspfs*6]" "38i"
"0000903059" "00001847" "90" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000903060" "00001847" "90" "6221" "0" "6221" "0" "c.6221G>A" "r.(?)" "p.(Gly2074Asp)" "45"
"0000903061" "00001847" "90" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000903062" "00001847" "90" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000903063" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000903064" "00001847" "90" "587" "0" "587" "0" "c.587C>T" "r.(?)" "p.(Pro196Leu)" "6"
"0000903065" "00001847" "30" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000903066" "00001847" "90" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000903067" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000903068" "00001847" "30" "4253" "43" "4253" "43" "c.4253+43G>A" "r.=" "p.=" "28i"
"0000903069" "00001847" "90" "5761" "0" "5761" "0" "c.5761G>A" "r.(?)" "p.(Val1921Met)" "41"
"0000903070" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.5585_5714del" "p.Glu1863Leufs*33" "40i"
"0000903071" "00001847" "30" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000903072" "00001847" "90" "2576" "0" "2576" "0" "c.2576A>G" "r.(?)" "p.(Gln859Arg)" "16"
"0000903073" "00001847" "30" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000903074" "00001847" "90" "4128" "0" "4128" "0" "c.4128G>C" "r.=" "p.Gln1376=" "27"
"0000903075" "00001847" "90" "4469" "0" "4469" "0" "c.4469G>A" "r.[4469g>a,4467_4539del]" "p.[Cys1490Tyr,Cys1490Glufs*12]" "30"
"0000903076" "00001847" "90" "3041" "0" "3041" "0" "c.3041T>G" "r.(?)" "p.(Leu1014Arg)" "20"
"0000903077" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000903078" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000903079" "00001847" "90" "2827" "0" "2827" "0" "c.2827C>T" "r.(?)" "p.(Arg943Trp)" "19"
"0000903080" "00001847" "90" "3259" "0" "3259" "0" "c.3259G>A" "r.(?)" "p.(Glu1087Lys)" "22"
"0000903081" "00001847" "90" "3259" "0" "3259" "0" "c.3259G>A" "r.(?)" "p.(Glu1087Lys)" "22"
"0000903082" "00001847" "90" "3237" "0" "3237" "0" "c.3237T>C" "r.(?)" "p.(Asp1079=)" "22"
"0000903083" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.5585_5714del" "p.Glu1863Leufs*33" "40i"
"0000903084" "00001847" "30" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000903085" "00001847" "90" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" "31"
"0000903086" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.(2588g>c,2588_2590del)" "p.(Gly863Ala,Gly863del)" "17"
"0000903087" "00001847" "90" "4773" "3" "4773" "3" "c.4773+3A>G" "r.4668_4773del" "p.Tyr1557Alafs*18" "33i"
"0000903088" "00001847" "90" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" "44"
"0000903089" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000903090" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000903091" "00001847" "30" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000903092" "00001847" "30" "3608" "0" "3608" "0" "c.3608G>A" "r.=" "p.Gly1203Glu" "25"
"0000903093" "00001847" "90" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000903094" "00001847" "90" "6077" "0" "6077" "0" "c.6077T>C" "r.(?)" "p.(Leu2026Pro)" "44"
"0000903095" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Valfs*13,Thr1821Aspfs*6]" "38i"
"0000903096" "00001847" "90" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000903097" "00001847" "90" "6204" "0" "6209" "0" "c.6204_6209delinsA" "r.=" "p.Gly2069ValfsTer26" "45"
"0000903098" "00001847" "30" "5603" "0" "5603" "0" "c.5603A>T" "r.5603a>u" "p.Asn1868Ile" "40"
"0000903099" "00001847" "30" "5603" "0" "5603" "0" "c.5603A>T" "r.5603a>u" "-" "40"
"0000903100" "00001847" "30" "5603" "0" "5603" "0" "c.5603A>T" "r.5603a>u" "p.Asn1868Ile" "40"
"0000903101" "00001847" "30" "5603" "0" "5603" "0" "c.5603A>T" "r.5603a>u" "-" "40"
"0000903102" "00001847" "90" "2966" "0" "2966" "0" "c.2966T>C" "r.(?)" "p.(Val989Ala)" "20"
"0000903103" "00001847" "50" "5691" "0" "5691" "0" "c.5691G>T" "r.(?)" "p.(Gln1897His)" "40"
"0000903104" "00001847" "50" "5691" "0" "5691" "0" "c.5691G>T" "r.(?)" "p.(Gln1897His)" "40"
"0000903105" "00001847" "30" "5603" "0" "5603" "0" "c.5603A>T" "r.5603a>u" "-" "40"
"0000903106" "00001847" "90" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" "35"
"0000903107" "00001847" "30" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000903108" "00001847" "90" "5177" "0" "5177" "0" "c.5177C>A" "r.5177c>a" "p.Thr1726Asn" "36"
"0000903109" "00001847" "30" "5836" "-145" "5836" "-145" "c.5836-145C>A" "r.=" "p.=" "41i"
"0000903110" "00001847" "90" "4667" "5" "4667" "5" "c.4667+5G>T" "r.4635_4667del" "p.Ser1545_Gln1555del" "32i"
"0000903111" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.5882g>a" "p.Gly1961Glu" "42"
"0000903112" "00001847" "30" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000903113" "00001847" "30" "5955" "0" "5955" "0" "c.5955C>T" "r.(?)" "p.(Leu1985=)" "43"
"0000903114" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000903115" "00001847" "90" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" "35"
"0000903116" "00001847" "30" "768" "538" "768" "538" "c.768+538C>G" "r.(?)" "p.(?)" "6i"
"0000903117" "00001847" "30" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000903118" "00001847" "30" "6148" "0" "6148" "0" "c.6148G>C" "r.=" "p.Val2050Leu" "45"
"0000903119" "00001847" "30" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000903120" "00001847" "30" "5603" "0" "5603" "0" "c.5603A>T" "r.5603a>u" "-" "40"
"0000903121" "00001847" "30" "3893" "0" "3893" "0" "c.3893A>G" "r.(?)" "p.(Asn1298Ser)" "27"
"0000903122" "00001847" "30" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000903123" "00001847" "30" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000903124" "00001847" "90" "4537" "0" "4537" "0" "c.4537dup" "r.(?)" "p.(Gln1513ProfsTer42)" "30"
"0000903125" "00001847" "30" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000903126" "00001847" "30" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000903127" "00001847" "30" "4163" "0" "4163" "0" "c.4163T>C" "r.(?)" "p.(Leu1388Pro)" "28"
"0000903128" "00001847" "30" "5603" "0" "5603" "0" "c.5603A>T" "r.5603a>u" "-" "40"
"0000903129" "00001847" "30" "5603" "0" "5603" "0" "c.5603A>T" "r.5603a>u" "-" "40"
"0000903140" "00001847" "30" "2828" "0" "2828" "0" "c.2828G>A" "r.(?)" "p.(Arg943Gln)" ""
"0000903141" "00001847" "30" "2828" "0" "2828" "0" "c.2828G>A" "r.(?)" "p.(Arg943Gln)" ""
"0000903142" "00001847" "30" "2828" "0" "2828" "0" "c.2828G>A" "r.(?)" "p.(Arg943Gln)" ""
"0000903143" "00001847" "70" "3259" "0" "3259" "0" "c.3259G>A" "r.(?)" "p.(Glu1087Lys)" ""
"0000903144" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" ""
"0000903145" "00001847" "50" "5646" "0" "5646" "0" "c.5646G>A" "r.(?)" "p.(Met1882Ile)" ""
"0000903146" "00001847" "50" "2633" "0" "2633" "0" "c.2633C>A" "r.(?)" "p.(Ser878Ter)" ""
"0000903147" "00001847" "50" "6389" "0" "6389" "0" "c.6389T>A" "r.(?)" "p.(Met2130Lys)" ""
"0000903166" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000903167" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000903168" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000903169" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000903170" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000903171" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000903172" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000903173" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000903174" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000903175" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000903176" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000903177" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000903178" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000903179" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000903180" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000903181" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000903182" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000903183" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000903184" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000903185" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000903186" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" ""
"0000903187" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000903188" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" ""
"0000903189" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000903190" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" ""
"0000903191" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000903192" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" ""
"0000903193" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000903194" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" ""
"0000903195" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000903196" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" ""
"0000903197" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000903198" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" ""
"0000903199" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000903200" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" ""
"0000903201" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000903202" "00001847" "70" "5413" "0" "5413" "0" "c.5413A>G" "r.(?)" "p.(Asn1805Asp)" ""
"0000903203" "00001847" "70" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" ""
"0000903204" "00001847" "70" "3262" "0" "3262" "0" "c.3262C>A" "r.(?)" "p.(Pro1088Thr)" ""
"0000903205" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" ""
"0000903206" "00001847" "70" "4919" "0" "4919" "0" "c.4919G>A" "r.(?)" "p.(Arg1640Gln)" ""
"0000903207" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" ""
"0000903208" "00001847" "70" "769" "-1" "769" "-1" "c.769-1G>T" "r.spl" "p.?" ""
"0000903209" "00001847" "70" "769" "-1" "769" "-1" "c.769-1G>T" "r.spl" "p.?" ""
"0000903210" "00001847" "70" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973*)" ""
"0000903211" "00001847" "70" "5704" "0" "5704" "0" "c.5704dup" "r.(?)" "p.(Leu1902Profs*10)" ""
"0000905249" "00001847" "50" "2919" "0" "2919" "0" "c.2919G>T" "r.(?)" "p.(Leu973Phe)" ""
"0000905502" "00001847" "30" "1411" "0" "1411" "0" "c.1411G>A" "r.(?)" "p.(Glu471Lys)" ""
"0000905519" "00001847" "50" "6498" "0" "6498" "0" "c.6498C>G" "r.(?)" "p.(Ile2166Met)" ""
"0000905520" "00001847" "50" "4610" "0" "4610" "0" "c.4610C>T" "r.(?)" "p.(Thr1537Met)" ""
"0000905521" "00001847" "50" "4610" "0" "4610" "0" "c.4610C>T" "r.(?)" "p.(Thr1537Met)" ""
"0000905522" "00001847" "50" "4297" "0" "4297" "0" "c.4297G>A" "r.(?)" "p.(Val1433Ile)" ""
"0000905523" "00001847" "50" "763" "0" "763" "0" "c.763C>T" "r.(?)" "p.(Arg255Cys)" ""
"0000905541" "00001847" "90" "1760" "2" "1760" "2" "c.1760+2T>G" "r.(?)" "p.?" ""
"0000905542" "00001847" "90" "1760" "2" "1760" "2" "c.1760+2T>G" "r.(?)" "p.?" ""
"0000905547" "00001847" "90" "553" "0" "553" "0" "c.553C>T" "r.(?)" "p.(Gln185*)" ""
"0000905549" "00001847" "90" "553" "0" "553" "0" "c.553C>T" "r.(?)" "p.(Gln185*)" ""
"0000905551" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000905859" "00001847" "50" "5908" "0" "5908" "0" "c.5908C>T" "r.(?)" "p.(Leu1970Phe)" ""
"0000905886" "00001847" "90" "4253" "43" "4253" "43" "c.4253+43G>A" "r.spl" "p.?" ""
"0000905945" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" ""
"0000905946" "00001847" "50" "618" "0" "618" "0" "c.618C>G" "r.(?)" "p.(Ser206Arg)" ""
"0000905979" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000905980" "00001847" "90" "4363" "0" "4363" "0" "c.4363T>C" "r.(?)" "p.(Cys1455Arg)" ""
"0000905984" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" ""
"0000905985" "00001847" "90" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" ""
"0000905986" "00001847" "90" "6658" "0" "6658" "0" "c.6658C>T" "r.(?)" "p.(Gln2220*)" ""
"0000905987" "00001847" "70" "550" "0" "551" "0" "c.550_551delinsCG" "r.(?)" "p.(Ser184Arg)" ""
"0000905988" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" ""
"0000905989" "00001847" "90" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" ""
"0000905990" "00001847" "90" "161" "0" "161" "0" "c.161G>A" "r.(?)" "p.(Cys54Tyr)" ""
"0000905991" "00001847" "70" "1317" "0" "1317" "0" "c.1317G>A" "r.(?)" "p.(Trp439*)" ""
"0000905992" "00001847" "70" "5908" "0" "5908" "0" "c.5908C>T" "r.(?)" "p.(Leu1970Phe)" ""
"0000908377" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000908378" "00001847" "50" "768" "0" "768" "0" "c.768G>T" "r.spl" "p.(Leu257Valfs*17)" "6"
"0000908379" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.(Gly863Ala)" "17"
"0000908380" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.(Gly863Ala)" "17"
"0000908381" "00001847" "50" "768" "0" "768" "0" "c.768G>T" "r.spl" "p.(Leu257Valfs*17)" "6"
"0000908382" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.(Gly863Ala)" "17"
"0000908383" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000908384" "00001847" "50" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(?)" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "42"
"0000908385" "00001847" "50" "768" "0" "768" "0" "c.768G>T" "r.spl" "p.(Leu257Valfs*17)" "6"
"0000908386" "00001847" "50" "768" "0" "768" "0" "c.768G>T" "r.spl" "p.(Leu257Valfs*17)" "6"
"0000908387" "00001847" "50" "2828" "0" "2828" "0" "c.2828G>A" "r.(?)" "p.(Arg943Gln)" "17"
"0000908388" "00001847" "50" "768" "0" "768" "0" "c.768G>T" "r.spl" "p.(Leu257Valfs*17)" "6"
"0000908389" "00001847" "50" "2828" "0" "2828" "0" "c.2828G>A" "r.(?)" "p.(Arg943Gln)" "17"
"0000908390" "00001847" "50" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000908391" "00001847" "50" "2828" "0" "2828" "0" "c.2828G>A" "r.(?)" "p.(Arg943Gln)" "17"
"0000911151" "00001847" "70" "6647" "0" "6647" "0" "c.6647C>T" "r.(?)" "p.(Ala2216Val)" ""
"0000911152" "00001847" "90" "6449" "0" "6449" "0" "c.6449G>A" "r.(?)" "p.(Cys2150Tyr)" ""
"0000911153" "00001847" "50" "6374" "0" "6374" "0" "c.6374T>C" "r.(?)" "p.(Leu2125Pro)" ""
"0000911154" "00001847" "30" "5715" "-5" "5715" "-5" "c.5715-5T>C" "r.spl?" "p.?" ""
"0000911155" "00001847" "30" "769" "-926" "769" "-926" "c.769-926G>T" "r.(=)" "p.(=)" ""
"0000911156" "00001847" "50" "542" "0" "542" "0" "c.542T>A" "r.(?)" "p.(Leu181Gln)" ""
"0000911157" "00001847" "50" "514" "0" "514" "0" "c.514G>A" "r.(?)" "p.(Gly172Ser)" ""
"0000911158" "00001847" "50" "239" "0" "239" "0" "c.239C>T" "r.(?)" "p.(Pro80Leu)" ""
"0000915783" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000915784" "00001847" "70" "4540" "-1" "4634" "1" "c.(4539+1_4540-1)_(4634+1_4635-1)del" "r.?" "p.(Arg1514Leufs*9)" ""
"0000915822" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.(=)" "p.(Leu257Valfs*17)" "6"
"0000915823" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000915832" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000915833" "00001847" "90" "5461" "-10" "5461" "-10" "c.[5461-10T>C;5603A>T]" "r.(=)" "p.[[Thr1821Aspfs*6Thr1821Valfs*13];(Asn1868Ile)]" "38i"
"0000915834" "00001847" "90" "5461" "-10" "5461" "-10" "c.[5461-10T>C;5603A>T]" "r.(?)" "p.[[Thr1821Aspfs*6Thr1821Valfs*13];(Asn1868Ile)]" "40"
"0000915836" "00001847" "70" "1933" "0" "1933" "0" "c.1933G>T" "r.(?)" "p.(Asp645Tyr)" "13"
"0000915837" "00001847" "70" "6705" "0" "6706" "0" "c.6705_6706insC" "r.(?)" "p.(Val2236Argfs*15)" "48"
"0000915841" "00001847" "70" "1933" "0" "1933" "0" "c.1933G>T" "r.(?)" "p.(Asp645Tyr)" "13"
"0000915842" "00001847" "70" "4667" "2" "4667" "2" "c.4667+2T>C" "r.spl?" "p.(?)" "32i"
"0000915854" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.(=)" "p.(Leu257Valfs*17)" "6"
"0000915855" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000915890" "00001847" "70" "6305" "0" "6305" "0" "c.6305A>C" "r.(?)" "p.(Asp2102Ala)" "46"
"0000915970" "00001847" "90" "6658" "0" "6658" "0" "c.6658C>T" "r.(?)" "p.(Gln2220*)" "48"
"0000915988" "00001847" "90" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071Cysfs*14)" "22"
"0000915989" "00001847" "90" "5461" "-10" "5461" "-10" "c.[5461-10T>C;5603A>T]" "r.(=)" "p.[[Thr1821Aspfs*6Thr1821Valfs*13];(Asn1868Ile)]" "38i"
"0000915990" "00001847" "90" "5461" "-10" "5461" "-10" "c.[5461-10T>C;5603A>T]" "r.(?)" "p.[[Thr1821Aspfs*6Thr1821Valfs*13];(Asn1868Ile)]" "40"
"0000916000" "00001847" "70" "1938" "-2" "1938" "-2" "c.1938-2A>C" "r.spl?" "p.(?)" "13i"
"0000916001" "00001847" "90" "5316" "0" "5316" "0" "c.5316G>A" "r.(?)" "p.(Trp1772*)" "38"
"0000916010" "00001847" "90" "5461" "-10" "5461" "-10" "c.[5461-10T>C;5603A>T]" "r.(=)" "p.[[Thr1821Aspfs*6Thr1821Valfs*13];(Asn1868Ile)]" "38i"
"0000916011" "00001847" "90" "5461" "-10" "5461" "-10" "c.[5461-10T>C;5603A>T]" "r.(?)" "p.[[Thr1821Aspfs*6Thr1821Valfs*13];(Asn1868Ile)]" "40"
"0000916047" "00001847" "90" "214" "0" "214" "0" "c.214G>A" "r.(?)" "p.(Gly72Arg)" "3"
"0000916048" "00001847" "90" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000916049" "00001847" "90" "214" "0" "214" "0" "c.214G>A" "r.(?)" "p.(Gly72Arg)" "3"
"0000916112" "00001847" "50" "1319" "0" "1319" "0" "c.1319A>G" "r.(?)" "p.(Tyr440Cys)" "10"
"0000916113" "00001847" "50" "2353" "0" "2353" "0" "c.2353C>T" "r.(?)" "p.(Arg785Cys)" "15"
"0000916114" "00001847" "50" "4753" "0" "4753" "0" "c.4753C>T" "r.(?)" "p.(Arg1585Trp)" "33"
"0000916183" "00001847" "90" "4437" "0" "4437" "0" "c.4437G>A" "r.(?)" "p.(Trp1479*)" "30"
"0000916184" "00001847" "50" "6500" "0" "6500" "0" "c.6500T>A" "r.(?)" "p.(Val2167Asp)" "48"
"0000916280" "00001847" "70" "3051" "-1" "3328" "1" "c.(3050+1_3051-1)_(3328+1_3329-1)del" "r.?" "p.(His1017Glnfs*65)" ""
"0000916281" "00001847" "90" "5461" "-10" "5461" "-10" "c.[5461-10T>C;5603A>T]" "r.(=)" "p.[[Thr1821Aspfs*6Thr1821Valfs*13];(Asn1868Ile)]" "38i"
"0000916282" "00001847" "90" "5461" "-10" "5461" "-10" "c.[5461-10T>C;5603A>T]" "r.(?)" "p.[[Thr1821Aspfs*6Thr1821Valfs*13];(Asn1868Ile)]" "40"
"0000916296" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.(=)" "p.(Leu257Valfs*17)" "6"
"0000916297" "00001847" "90" "4352" "1" "4352" "1" "c.4352+1G>A" "r.spl?" "p.(?)" "29i"
"0000916342" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000916452" "00001847" "90" "3064" "0" "3064" "0" "c.3064G>A" "r.(?)" "p.(Glu1022Lys)" "21"
"0000916476" "00001847" "70" "1019" "0" "1019" "0" "c.1019A>G" "r.(?)" "p.(Tyr340Cys)" "8"
"0000916477" "00001847" "90" "2813" "0" "2813" "0" "c.2813T>C" "r.(?)" "p.(Phe938Ser)" "19"
"0000916505" "00001847" "70" "1835" "0" "1835" "0" "c.1835del" "r.(?)" "p.(Gln612Argfs*37)" "13"
"0000916506" "00001847" "90" "2300" "0" "2300" "0" "c.2300T>A" "r.(?)" "p.(Val767Asp)" "15"
"0000916559" "00001847" "90" "2041" "0" "2041" "0" "c.2041C>T" "r.(?)" "p.(Arg681*)" "14"
"0000916560" "00001847" "90" "6088" "0" "6088" "0" "c.6088C>T" "r.(?)" "p.(Arg2030*)" "44"
"0000916561" "00001847" "90" "2041" "0" "2041" "0" "c.2041C>T" "r.(?)" "p.(Arg681*)" "14"
"0000916562" "00001847" "90" "6088" "0" "6088" "0" "c.6088C>T" "r.(?)" "p.(Arg2030*)" "44"
"0000916563" "00001847" "90" "2041" "0" "2041" "0" "c.2041C>T" "r.(?)" "p.(Arg681*)" "14"
"0000916564" "00001847" "90" "6088" "0" "6088" "0" "c.6088C>T" "r.(?)" "p.(Arg2030*)" "44"
"0000916753" "00001847" "70" "6729" "5" "6729" "19" "c.6729+5_6729+19del" "r.spl?" "p.(Phe2161Cysfs*3)" "48i"
"0000917285" "00001847" "70" "2966" "0" "2966" "0" "c.2966T>C" "r.(?)" "p.(Val989Ala)" "20"
"0000917286" "00001847" "70" "4253" "5" "4253" "5" "c.4253+5G>A" "r.spl?" "p.?" ""
"0000919631" "00001847" "70" "1957" "0" "1957" "0" "c.1957C>T" "r.(?)" "p.(Arg653Cys)" "14"
"0000919632" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000919633" "00001847" "70" "1957" "0" "1957" "0" "c.1957C>T" "r.(?)" "p.(Arg653Cys)" "14"
"0000919634" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000919635" "00001847" "70" "1749" "0" "1749" "0" "c.1749G>C" "r.(?)" "p.(Lys583Asn)" "12"
"0000919636" "00001847" "70" "286" "0" "286" "0" "c.286A>G" "r.(?)" "p.(Asn96Asp)" "3"
"0000919637" "00001847" "90" "123" "0" "123" "0" "c.123G>A" "r.(?)" "p.(Trp41*)" "2"
"0000919638" "00001847" "70" "214" "0" "214" "0" "c.214G>A" "r.(?)" "p.(Gly72Arg)" "3"
"0000919639" "00001847" "90" "2660" "0" "2661" "0" "c.2660_2661delinsT" "r.(?)" "p.(Ser887Leufs*14)" "18"
"0000919640" "00001847" "70" "283" "0" "283" "0" "c.283T>C" "r.(?)" "p.(Ser95Pro)" "3"
"0000919641" "00001847" "90" "4537" "0" "4537" "0" "c.4537dup" "r.(?)" "p.(Gln1513Profs*42)" "30"
"0000919642" "00001847" "70" "5530" "0" "5530" "0" "c.5530G>T" "r.(?)" "p.(Gly1844Cys)" "39"
"0000919643" "00001847" "90" "885" "0" "885" "0" "c.885del" "r.(?)" "p.(Leu296Cysfs*4)" "8"
"0000919644" "00001847" "70" "4253" "43" "4253" "43" "c.4253+43G>A" "r.[=,4129_4253del]" "p.[=,Ile1377Hisfs*3]" ""
"0000919645" "00001847" "70" "5018" "2" "5018" "2" "c.5018+2T>C" "r.spl?" "p.?" ""
"0000919646" "00001847" "70" "4328" "0" "4328" "0" "c.4328G>A" "r.(?)" "p.(Arg1443His)" "22"
"0000919647" "00001847" "70" "3292" "0" "3292" "0" "c.3292C>T" "r.(?)" "p.(Arg1098Cys)" "22"
"0000919648" "00001847" "70" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000919649" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000919650" "00001847" "70" "3259" "0" "3259" "0" "c.3259G>A" "r.(?)" "p.(Glu1087Lys)" "22"
"0000919651" "00001847" "70" "3247" "0" "3247" "0" "c.3247G>A" "r.(?)" "p.(Val1083Met)" "22"
"0000919652" "00001847" "70" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" "44"
"0000919653" "00001847" "70" "1609" "0" "1609" "0" "c.1609C>T" "r.(?)" "p.(Arg537Cys)" "12"
"0000919654" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000919655" "00001847" "70" "286" "0" "286" "0" "c.286A>G" "r.(?)" "p.(Asn96Asp)" "3"
"0000919656" "00001847" "70" "286" "0" "286" "0" "c.286A>G" "r.(?)" "p.(Asn96Asp)" "3"
"0000919657" "00001847" "70" "6220" "0" "6220" "0" "c.6220G>A" "r.(?)" "p.(Gly2074Ser)" "45"
"0000919658" "00001847" "70" "6220" "0" "6220" "0" "c.6220G>A" "r.(?)" "p.(Gly2074Ser)" "45"
"0000919659" "00001847" "90" "1714" "0" "1714" "0" "c.1714C>T" "r.(?)" "p.(Arg572*)" "12"
"0000919660" "00001847" "70" "4253" "43" "4253" "43" "c.4253+43G>A" "r.[(=,4129_4253del)]" "p.[(=,Ile1377Hisfs*3)]" ""
"0000919661" "00001847" "90" "2660" "0" "2661" "0" "c.2660_2661delinsT" "r.(?)" "p.(Ser887Leufs*14)" "18"
"0000919662" "00001847" "70" "283" "0" "283" "0" "c.283T>C" "r.(?)" "p.(Ser95Pro)" "3"
"0000919992" "00001847" "90" "247" "0" "250" "0" "c.247_250dup" "r.(?)" "p.(Ser84Thrfs*16)" "3"
"0000919993" "00001847" "70" "5329" "0" "5329" "0" "c.5329A>T" "r.(?)" "p.(Met1777Leu)" "38"
"0000919994" "00001847" "90" "571" "-2" "571" "-2" "c.571-2A>T" "r.spl?" "p.?" ""
"0000919995" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000919996" "00001847" "90" "3970" "0" "3970" "0" "c.3970del" "r.(?)" "p.(Ala1324Argfs*65)" "27"
"0000919997" "00001847" "70" "570" "7" "570" "7" "c.570+7G>T" "r.(=)" "p.(=)" ""
"0000919998" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" ""
"0000919999" "00001847" "70" "4793" "0" "4793" "0" "c.4793C>A" "r.(?)" "p.(Ala1598Asp)" "34"
"0000920000" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000920001" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000920002" "00001847" "70" "688" "0" "688" "0" "c.688T>A" "r.(?)" "p.(Cys230Ser)" "6"
"0000920003" "00001847" "70" "5929" "0" "5929" "0" "c.5929G>A" "r.(?)" "p.(Gly1977Ser)" "43"
"0000920004" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000920005" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000920006" "00001847" "70" "4540" "0" "4540" "0" "c.4540A>G" "r.(?)" "p.(Arg1514Gly)" "31"
"0000920007" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000920008" "00001847" "70" "5087" "0" "5087" "0" "c.5087G>A" "r.(?)" "p.(Ser1696Asn)" "36"
"0000920009" "00001847" "70" "4775" "0" "4775" "0" "c.4775G>A" "r.(?)" "p.(Gly1592Asp)" "34"
"0000920010" "00001847" "70" "2461" "0" "2461" "0" "c.2461T>A" "r.(?)" "p.(Trp821Arg)" "16"
"0000920011" "00001847" "70" "3323" "0" "3323" "0" "c.3323G>A" "r.(?)" "p.(Arg1108His)" "22"
"0000920012" "00001847" "70" "4297" "0" "4297" "0" "c.4297G>A" "r.(?)" "p.(Val1433Ile)" "29"
"0000920013" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.768_769ins769+1_769+30" "p.Leu257Valfs*17" "6"
"0000920014" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000920015" "00001847" "70" "1957" "0" "1957" "0" "c.1957C>T" "r.(?)" "p.(Arg653Cys)" "14"
"0000920016" "00001847" "70" "3292" "0" "3292" "0" "c.3292C>T" "r.(?)" "p.(Arg1098Cys)" "22"
"0000920017" "00001847" "70" "3292" "0" "3292" "0" "c.3292C>T" "r.(?)" "p.(Arg1098Cys)" "22"
"0000920018" "00001847" "90" "4947" "0" "4947" "0" "c.4947del" "r.(?)" "p.(Glu1650Argfs*12)" "35"
"0000920019" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000920020" "00001847" "90" "6282" "1" "6282" "1" "c.6282+1G>A" "r.spl?" "p.?" ""
"0000920021" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000920022" "00001847" "70" "4793" "0" "4793" "0" "c.4793C>A" "r.(?)" "p.(Ala1598Asp)" "34"
"0000920023" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000920024" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000920025" "00001847" "90" "6445" "0" "6445" "0" "c.6445C>T" "r.(?)" "p.(Arg2149*)" "47"
"0000920026" "00001847" "90" "3296" "0" "3296" "0" "c.3296C>G" "r.(?)" "p.(Ser1099*)" "22"
"0000920027" "00001847" "70" "6230" "0" "6230" "0" "c.6230G>A" "r.(?)" "p.(Arg2077Gln)" "45"
"0000920028" "00001847" "70" "6230" "0" "6230" "0" "c.6230G>A" "r.(?)" "p.(Arg2077Gln)" "45"
"0000920029" "00001847" "90" "3296" "0" "3296" "0" "c.3296C>G" "r.(?)" "p.(Ser1099*)" "22"
"0000920030" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000920031" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000920032" "00001847" "70" "2461" "0" "2461" "0" "c.2461T>A" "r.(?)" "p.(Trp821Arg)" "16"
"0000920033" "00001847" "70" "4793" "0" "4793" "0" "c.4793C>A" "r.(?)" "p.(Ala1598Asp)" "34"
"0000920034" "00001847" "70" "2461" "0" "2461" "0" "c.2461T>A" "r.(?)" "p.(Trp821Arg)" "16"
"0000920035" "00001847" "70" "4793" "0" "4793" "0" "c.4793C>A" "r.(?)" "p.(Ala1598Asp)" "34"
"0000920036" "00001847" "70" "203" "0" "203" "0" "c.203C>T" "r.(?)" "p.(Pro68Leu)" "3"
"0000920037" "00001847" "70" "5572" "0" "5572" "0" "c.5572T>A" "r.(?)" "p.(Tyr1858Asn)" "39"
"0000920038" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000920039" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000920040" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000920041" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000920042" "00001847" "70" "5929" "0" "5929" "0" "c.5929G>A" "r.(?)" "p.(Gly1977Ser)" "43"
"0000920043" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.768_769ins769+1_769+30" "p.Leu257Valfs*17" "6"
"0000920044" "00001847" "70" "4519" "0" "4519" "0" "c.4519G>A" "r.(?)" "p.(Gly1507Arg)" "30"
"0000920045" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000920046" "00001847" "70" "4328" "0" "4328" "0" "c.4328G>A" "r.(?)" "p.(Arg1443His)" "29"
"0000920047" "00001847" "70" "3409" "0" "3409" "0" "c.3409A>G" "r.(?)" "p.(Arg1137Gly)" "23"
"0000920048" "00001847" "70" "5572" "0" "5572" "0" "c.5572T>A" "r.(?)" "p.(Tyr1858Asn)" "39"
"0000920049" "00001847" "70" "2909" "0" "2909" "0" "c.2909C>T" "r.(?)" "p.(Thr970Ile)" "19"
"0000920050" "00001847" "70" "688" "0" "688" "0" "c.688T>A" "r.(?)" "p.(Cys230Ser)" "6"
"0000920051" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000920052" "00001847" "90" "5018" "2" "5018" "2" "c.5018+2T>C" "r.spl?" "p.?" ""
"0000920053" "00001847" "70" "6415" "0" "6415" "0" "c.6415C>T" "r.(?)" "p.(Arg2139Trp)" "47"
"0000920054" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000920055" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000920056" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000920057" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000920058" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000920059" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000920060" "00001847" "90" "2099" "0" "2099" "0" "c.2099G>A" "r.(?)" "p.(Trp700*)" "14"
"0000920061" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" ""
"0000920062" "00001847" "70" "5413" "0" "5413" "0" "c.5413A>G" "r.(?)" "p.(Asn1805Asp)" "38"
"0000920063" "00001847" "90" "4956" "0" "4956" "0" "c.4956T>G" "r.(?)" "p.(Tyr1652*)" "35"
"0000920064" "00001847" "70" "2791" "0" "2791" "0" "c.2791G>A" "r.(?)" "p.(Val931Met)" "19"
"0000920065" "00001847" "90" "571" "-2" "571" "-2" "c.571-2A>T" "r.spl?" "p.?" ""
"0000920066" "00001847" "70" "6449" "0" "6449" "0" "c.6449G>A" "r.(?)" "p.(Cys2150Tyr)" "47"
"0000920067" "00001847" "90" "2099" "0" "2099" "0" "c.2099G>A" "r.(?)" "p.(Trp700*)" "14"
"0000920068" "00001847" "70" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000920069" "00001847" "90" "2099" "0" "2099" "0" "c.2099G>A" "r.(?)" "p.(Trp700*)" "14"
"0000920070" "00001847" "70" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000920071" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000920072" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" ""
"0000920073" "00001847" "90" "161" "0" "161" "0" "c.161G>A" "r.[161_302del,161G>A]" "p.[Cys54Serfs*14,Cys54Tyr]" "3"
"0000920074" "00001847" "70" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000920075" "00001847" "70" "2549" "0" "2549" "0" "c.2549A>G" "r.(?)" "p.(Tyr850Cys)" "16"
"0000920076" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000920077" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" ""
"0000920078" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000920079" "00001847" "70" "2549" "0" "2549" "0" "c.2549A>G" "r.(?)" "p.(Tyr850Cys)" "16"
"0000920080" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000920081" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" ""
"0000920082" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000920083" "00001847" "70" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000920084" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000920085" "00001847" "90" "5961" "0" "5964" "0" "c.5961_5964del" "r.(?)" "p.(Asp1988Profs*3)" "43"
"0000920086" "00001847" "70" "5417" "0" "5417" "0" "c.5417G>A" "r.(?)" "p.(Ser1806Asn)" "38"
"0000920087" "00001847" "70" "2461" "0" "2461" "0" "c.2461T>A" "r.(?)" "p.(Trp821Arg)" "16"
"0000920088" "00001847" "70" "3323" "0" "3323" "0" "c.3323G>A" "r.(?)" "p.(Arg1108His)" "22"
"0000920089" "00001847" "70" "4297" "0" "4297" "0" "c.4297G>A" "r.(?)" "p.(Val1433Ile)" "29"
"0000920090" "00001847" "90" "4710" "0" "4710" "0" "c.4710del" "r.(?)" "p.(Ile1571Serfs*10)" "33"
"0000920091" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" ""
"0000920092" "00001847" "90" "5722" "0" "5722" "0" "c.5722G>T" "r.(?)" "p.(Glu1908*)" "41"
"0000920093" "00001847" "70" "5530" "0" "5530" "0" "c.5530G>T" "r.(?)" "p.(Gly1844Cys)" "39"
"0000920094" "00001847" "70" "428" "0" "428" "0" "c.428C>T" "r.(?)" "p.(Pro143Leu)" "4"
"0000920095" "00001847" "70" "466" "0" "466" "0" "c.466A>G" "r.(?)" "p.(Ile156Val)" "5"
"0000920096" "00001847" "70" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" "44"
"0000920097" "00001847" "90" "4640" "0" "4640" "0" "c.4640del" "r.(?)" "p.(Lys1547Argfs*34)" "32"
"0000920098" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000920099" "00001847" "90" "1" "0" "1" "0" "c.1A>G" "r.?" "p.(Met1Val)" "1"
"0000920100" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000920101" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" ""
"0000920102" "00001847" "70" "6419" "0" "6419" "0" "c.6419T>A" "r.(?)" "p.(Leu2140Gln)" "47"
"0000920103" "00001847" "90" "553" "0" "553" "0" "c.553C>T" "r.(?)" "p.(Gln185*)" "5"
"0000920104" "00001847" "70" "4462" "0" "4462" "0" "c.4462T>C" "r.(?)" "p.(Cys1488Arg)" "30"
"0000920105" "00001847" "90" "1375" "0" "1375" "0" "c.1375del" "r.(?)" "p.(Thr459Glnfs*2)" "11"
"0000920106" "00001847" "70" "1648" "0" "1648" "0" "c.1648G>A" "r.(?)" "p.(Gly550Arg)" "12"
"0000920107" "00001847" "90" "6817" "-1" "6817" "-1" "c.6817-1G>A" "r.spl?" "p.?" ""
"0000920108" "00001847" "70" "4042" "0" "4068" "0" "c.4042_4068del" "r.(?)" "p.(Thr1348_Gln1356del)" "27"
"0000920109" "00001847" "90" "6282" "1" "6282" "1" "c.6282+1G>C" "r.spl?" "p.?" ""
"0000920110" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000923256" "00001847" "30" "5197" "-402" "5197" "-402" "c.5197-402G>T" "r.(=)" "p.(=)" ""
"0000923257" "00001847" "70" "2915" "0" "2915" "0" "c.2915C>A" "r.(?)" "p.(Thr972Asn)" ""
"0000923258" "00001847" "30" "2742" "0" "2742" "0" "c.2742C>T" "r.(?)" "p.(His914=)" ""
"0000923259" "00001847" "30" "2158" "0" "2158" "0" "c.2158A>G" "r.(?)" "p.(Met720Val)" ""
"0000923260" "00001847" "30" "1365" "0" "1365" "0" "c.1365G>A" "r.(?)" "p.(Leu455=)" ""
"0000923261" "00001847" "30" "667" "0" "667" "0" "c.667A>C" "r.(?)" "p.(Lys223Gln)" ""
"0000923262" "00001847" "50" "560" "0" "560" "0" "c.560G>A" "r.(?)" "p.(Arg187His)" ""
"0000923263" "00001847" "70" "286" "0" "286" "0" "c.286A>C" "r.(?)" "p.(Asn96His)" ""
"0000923264" "00001847" "90" "214" "0" "214" "0" "c.214G>A" "r.(?)" "p.(Gly72Arg)" ""
"0000927598" "00001847" "90" "1901" "0" "1901" "0" "c.1901T>C" "r.(?)" "p.(Leu634Pro)" ""
"0000927599" "00001847" "90" "438" "0" "438" "0" "c.438del" "r.(?)" "p.(Ile146Metfs*8)" ""
"0000927601" "00001847" "90" "1994" "0" "1994" "0" "c.1994del" "r.(?)" "p.(Tyr665Serfs*5)" ""
"0000927622" "00001847" "90" "699" "0" "768" "341" "c.699_768+341del" "r.?" "p.(Gln234Phefs*5)" "6_6i"
"0000927623" "00001847" "90" "6480" "-35" "6480" "-35" "c.6480-35A>G" "r.[(6479_6480ins[6480-47_6480-36;g;6480-34_6480-1],=)]" "p.[(Phe2161Profs*3,=)]" "47i"
"0000927624" "00001847" "90" "6480" "-35" "6480" "-35" "c.6480-35A>G" "r.[(6479_6480ins[6480-47_6480-36;g;6480-34_6480-1],=)]" "p.[(Phe2161Profs*4,=)]" "47i"
"0000927625" "00001847" "90" "1958" "0" "1958" "0" "c.1958G>A" "r.(?)" "p.(Arg653His)" "14"
"0000927641" "00001847" "50" "1268" "0" "1268" "0" "c.1268A>G" "r.(?)" "p.(His423Arg)" ""
"0000927648" "00001847" "50" "1654" "0" "1654" "0" "c.1654G>A" "r.(?)" "p.(Val552Ile)" ""
"0000927649" "00001847" "50" "4008" "0" "4008" "0" "c.4008G>T" "r.(?)" "p.(Glu1336Asp)" ""
"0000927651" "00001847" "50" "1654" "0" "1654" "0" "c.1654G>A" "r.(?)" "p.(Val552Ile)" ""
"0000927653" "00001847" "50" "868" "0" "868" "0" "c.868C>T" "r.(?)" "p.(Arg290Trp)" ""
"0000928230" "00001847" "90" "5018" "2" "5018" "2" "c.5018+2T>A" "r.spl?" "p.?" ""
"0000928231" "00001847" "30" "4934" "0" "4934" "0" "c.4934A>C" "r.(?)" "p.(Lys1645Thr)" ""
"0000928232" "00001847" "90" "4919" "0" "4919" "0" "c.4919G>A" "r.(?)" "p.(Arg1640Gln)" ""
"0000928233" "00001847" "70" "4539" "1106" "4539" "1106" "c.4539+1106C>T" "r.(=)" "p.(=)" ""
"0000928234" "00001847" "70" "4539" "1100" "4539" "1100" "c.4539+1100A>G" "r.(=)" "p.(=)" ""
"0000928235" "00001847" "70" "4254" "-17" "4254" "-17" "c.4254-17T>A" "r.(=)" "p.(=)" ""
"0000928236" "00001847" "50" "4253" "13" "4253" "13" "c.4253+13G>T" "r.(=)" "p.(=)" ""
"0000928237" "00001847" "50" "4224" "0" "4224" "0" "c.4224G>T" "r.(?)" "p.(Trp1408Cys)" ""
"0000928238" "00001847" "50" "3936" "0" "3936" "0" "c.3936G>C" "r.(?)" "p.(Gln1312His)" ""
"0000928239" "00001847" "50" "3422" "0" "3422" "0" "c.3422C>T" "r.(?)" "p.(Ser1141Leu)" ""
"0000928240" "00001847" "50" "1825" "0" "1825" "0" "c.1825G>A" "r.(?)" "p.(Ala609Thr)" ""
"0000928241" "00001847" "30" "859" "-462" "859" "-462" "c.859-462C>T" "r.(=)" "p.(=)" ""
"0000928242" "00001847" "30" "769" "-3" "769" "-3" "c.769-3C>T" "r.spl?" "p.?" ""
"0000928243" "00001847" "70" "769" "-784" "769" "-784" "c.769-784C>T" "r.(=)" "p.(=)" ""
"0000928244" "00001847" "50" "618" "0" "618" "0" "c.618C>G" "r.(?)" "p.(Ser206Arg)" ""
"0000928245" "00001847" "50" "574" "0" "574" "0" "c.574G>A" "r.(?)" "p.(Ala192Thr)" ""
"0000928246" "00001847" "90" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.?" ""
"0000931646" "00001847" "70" "2453" "0" "2453" "0" "c.2453G>A" "r.(?)" "p.(Gly818Glu)" ""
"0000932047" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.(Gly863Ala)" "17"
"0000932048" "00001847" "30" "769" "-784" "769" "-784" "c.769-784C>T" "r.spl" "p.[=,Leu257Aspfs*3]" "6i"
"0000932049" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.(Gly863Ala)" "17"
"0000932050" "00001847" "70" "1853" "0" "1853" "0" "c.1853G>A" "r.(?)" "p.(Gly618Glu)" "13"
"0000932051" "00001847" "90" "4539" "2064" "4539" "2064" "c.4539+2064C>T" "r.spl" "p.[=,Arg1514Leufs*36]" "30i"
"0000932052" "00001847" "90" "161" "0" "161" "0" "c.161G>A" "r.spl" "p.[Cys54Serfs*14,Cys54Tyr]" "3"
"0000932053" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000932054" "00001847" "90" "71" "0" "71" "0" "c.71G>A" "r.(?)" "p.(Arg24His)" "2"
"0000932055" "00001847" "50" "4253" "43" "4253" "43" "c.4253+43G>A" "r.spl" "p.[=,Ile1377Hisfs*3]" "28i"
"0000932056" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000932057" "00001847" "90" "4253" "4" "4253" "4" "c.4253+4C>T" "r.spl" "p.Ile1377Hisfs*3" "28i"
"0000932058" "00001847" "90" "1906" "0" "1906" "0" "c.1906C>T" "r.(?)" "p.(Gln636*)" "13"
"0000932059" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000932060" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000932061" "00001847" "90" "2587" "2" "2587" "2" "c.2587+2T>C" "r.spl" "p.?" "16i"
"0000932062" "00001847" "90" "3898" "0" "3898" "0" "c.3898C>T" "r.(?)" "p.(Arg1300*)" "27"
"0000932063" "00001847" "30" "769" "-784" "769" "-784" "c.769-784C>T" "r.spl" "p.[=,Leu257Aspfs*3]" "6i"
"0000932064" "00001847" "90" "1958" "0" "1958" "0" "c.1958G>A" "r.(?)" "p.(Arg653His)" "14"
"0000932065" "00001847" "90" "3212" "0" "3212" "0" "c.3212C>T" "r.(?)" "p.(Ser1071Leu)" "22"
"0000932066" "00001847" "90" "2888" "0" "2888" "0" "c.2888del" "r.(?)" "p.(Gly963AlafsTer14)" "19"
"0000932067" "00001847" "90" "3050" "5" "3050" "5" "c.3050+5G>A" "r.spl" "p.Leu973_His1017delinsPhe" "20i"
"0000932068" "00001847" "70" "570" "1798" "570" "1798" "c.570+1798A>G" "r.spl" "p.Phe191Leufs*6" "5i"
"0000932069" "00001847" "90" "1648" "0" "1648" "0" "c.1648G>A" "r.(?)" "p.(Gly550Arg)" "12"
"0000932070" "00001847" "90" "3607" "0" "3607" "0" "c.3607G>A" "r.(?)" "p.(Gly1203Arg)" "24"
"0000932071" "00001847" "50" "1792" "0" "1792" "0" "c.1792G>A" "r.(?)" "p.(Val598Met)" "13"
"0000932072" "00001847" "70" "3050" "5" "3050" "5" "c.3050+5G>A" "r.spl" "p.Leu973_His1017delinsPhe" "20i"
"0000932073" "00001847" "90" "53" "0" "53" "0" "c.53G>C" "r.(?)" "p.(Arg18Pro)" "1"
"0000932074" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000932075" "00001847" "70" "3041" "0" "3041" "0" "c.3041T>G" "r.(?)" "p.(Leu1014Arg)" "20"
"0000932076" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000932077" "00001847" "70" "3050" "5" "3050" "5" "c.3050+5G>A" "r.spl" "p.Leu973_His1017delinsPhe" "20i"
"0000932078" "00001847" "50" "2564" "0" "2564" "0" "c.2564G>A" "r.(?)" "p.(Trp855*)" "16"
"0000932079" "00001847" "50" "156" "0" "156" "0" "c.156T>G" "r.(?)" "p.(His52Gln)" "2"
"0000932080" "00001847" "50" "1522" "0" "1522" "0" "c.1522C>T" "r.(?)" "p.(Arg508Cys)" "11"
"0000932081" "00001847" "70" "6697" "0" "6699" "0" "c.6697_6699del" "r.(?)" "p.(Glu2233del)" "48"
"0000932082" "00001847" "30" "769" "-784" "769" "-784" "c.769-784C>T" "r.spl" "p.[=,Leu257Aspfs*3]" "6i"
"0000932083" "00001847" "70" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.(Met1?)" "1"
"0000932084" "00001847" "90" "4222" "0" "4222" "0" "c.4222T>C" "r.(?)" "p.(Trp1408Arg)" "28"
"0000932085" "00001847" "90" "3056" "0" "3056" "0" "c.3056C>T" "r.(?)" "p.(Thr1019Met)" "21"
"0000932086" "00001847" "90" "6112" "0" "6112" "0" "c.6112C>T" "r.(?)" "p.(Arg2038Trp)" "44"
"0000932087" "00001847" "70" "1574" "0" "1574" "0" "c.1574T>C" "r.(?)" "p.(Phe525Ser)" "12"
"0000932088" "00001847" "90" "4457" "0" "4457" "0" "c.4457C>T" "r.(?)" "p.(Pro1486Leu)" "30"
"0000932089" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000932090" "00001847" "90" "3323" "0" "3323" "0" "c.3323G>A" "r.(?)" "p.(Arg1108His)" "22"
"0000932091" "00001847" "50" "2564" "0" "2564" "0" "c.2564G>A" "r.(?)" "p.(Trp855*)" "16"
"0000932092" "00001847" "90" "302" "1" "302" "1" "c.302+1G>A" "r.spl" "p.?" "3i"
"0000932093" "00001847" "90" "71" "0" "71" "0" "c.71G>A" "r.(?)" "p.(Arg24His)" "2"
"0000932094" "00001847" "70" "2396" "0" "2396" "0" "c.2396C>T" "r.(?)" "p.(Pro799Leu)" "16"
"0000932095" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000932096" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000932097" "00001847" "90" "247" "0" "250" "0" "c.247_250dup" "r.(?)" "p.(Ser84Thrfs*16)" "3"
"0000932098" "00001847" "70" "1204" "0" "1204" "0" "c.1204C>G" "r.(?)" "p.(Pro402Ala)" "9"
"0000932099" "00001847" "90" "571" "-2" "571" "-2" "c.571-2A>T" "r.spl" "p.?" "5i"
"0000932100" "00001847" "90" "4663" "0" "4664" "0" "c.4663_4664del" "r.(?)" "p.(Gln1555Glufs*41)" "32"
"0000932101" "00001847" "70" "288" "0" "288" "0" "c.288C>A" "r.(?)" "p.(Asn96Lys)" "3"
"0000932102" "00001847" "90" "885" "0" "885" "0" "c.885del" "r.(?)" "p.(Leu296Cysfs*4)" "8"
"0000932103" "00001847" "90" "247" "0" "250" "0" "c.247_250dup" "r.(?)" "p.(Ser84Thrfs*16)" "3"
"0000932104" "00001847" "90" "247" "0" "250" "0" "c.247_250dup" "r.(?)" "p.(Ser84Thrfs*16)" "3"
"0000932105" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000932106" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000932107" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000932108" "00001847" "70" "2813" "0" "2813" "0" "c.2813T>C" "r.(?)" "p.(Phe938Ser)" "19"
"0000932109" "00001847" "90" "571" "-1" "571" "-1" "c.571-1G>T" "r.spl" "p.?" "5i"
"0000932110" "00001847" "90" "4537" "0" "4537" "0" "c.4537dup" "r.(?)" "p.(Gln1513Profs*42)" "30"
"0000932111" "00001847" "70" "868" "0" "868" "0" "c.868C>T" "r.(?)" "p.(Arg290Trp)" "8"
"0000932112" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000932113" "00001847" "90" "4354" "0" "4354" "0" "c.4354G>T" "r.(?)" "p.(Glu1452*)" "30"
"0000932114" "00001847" "90" "4919" "0" "4919" "0" "c.4919G>A" "r.(?)" "p.(Arg1640Gln)" "35"
"0000932115" "00001847" "50" "1140" "0" "1140" "0" "c.1140T>A" "r.(?)" "p.(Asn380Lys)" "9"
"0000932116" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000932117" "00001847" "70" "2743" "0" "2743" "0" "c.2743G>A" "r.spl" "p.[(Gly885_His914,Asp915Glyfs*35)]" "18"
"0000932118" "00001847" "90" "286" "0" "286" "0" "c.286A>G" "r.(?)" "p.(Asn96Asp)" "3"
"0000932119" "00001847" "90" "1957" "0" "1957" "0" "c.1957C>T" "r.(?)" "p.(Arg653Cys)" "14"
"0000932120" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000932121" "00001847" "90" "5018" "2" "5018" "2" "c.5018+2T>C" "r.spl" "p.?" "35i"
"0000932122" "00001847" "50" "2860" "0" "2860" "0" "c.2860T>G" "r.(?)" "p.(Tyr954Asp)" "19"
"0000932123" "00001847" "70" "428" "0" "428" "0" "c.428C>T" "r.(?)" "p.(Pro143Leu)" "4"
"0000932124" "00001847" "90" "2041" "0" "2041" "0" "c.2041C>T" "r.(?)" "p.(Arg681*)" "14"
"0000932125" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000932126" "00001847" "90" "4234" "0" "4234" "0" "c.4234C>T" "r.(?)" "p.(Gln1412*)" "28"
"0000932127" "00001847" "70" "303" "-1" "303" "-1" "c.303-1G>T" "r.spl" "p.?" "3"
"0000932128" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000932129" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.(Gly863Ala)" "17"
"0000932130" "00001847" "30" "769" "-784" "769" "-784" "c.769-784C>T" "r.spl" "p.[=,Leu257Aspfs*3]" "6i"
"0000932131" "00001847" "70" "3407" "0" "3407" "0" "c.3407G>A" "r.(?)" "p.(Gly1136Glu)" "23"
"0000932132" "00001847" "70" "5171" "0" "5171" "0" "c.5171G>C" "r.(?)" "p.(Trp1724Ser)" "36"
"0000932133" "00001847" "90" "3832" "0" "3832" "0" "c.3832G>T" "r.(?)" "p.(Glu1278*)" "26"
"0000932134" "00001847" "90" "2966" "0" "2966" "0" "c.2966T>C" "r.(?)" "p.(Val989Ala)" "20"
"0000932135" "00001847" "90" "61" "0" "61" "0" "c.61C>T" "r.(?)" "p.(Gln21*)" "1"
"0000932136" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000932137" "00001847" "70" "2918" "552" "3329" "-601" "c.2918+552_3329-601del" "r.spl" "p.Ser974Glnfs*64" "19i-22i"
"0000932138" "00001847" "90" "1317" "0" "1317" "0" "c.1317G>A" "r.(?)" "p.(Trp439*)" "10"
"0000932139" "00001847" "90" "4537" "0" "4537" "0" "c.4537dup" "r.(?)" "p.(Gln1513Profs*42)" "30"
"0000932140" "00001847" "90" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.spl" "p.[=,Met1733Glufs*78]" "36i"
"0000932141" "00001847" "50" "2546" "0" "2546" "0" "c.2546T>C" "r.(?)" "p.(Val849Ala)" "16"
"0000932142" "00001847" "50" "3050" "370" "3050" "370" "c.3050+370C>T" "r.spl" "p.Leu1018Glufs*4" "20i"
"0000932143" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000932144" "00001847" "50" "859" "-546" "859" "-546" "c.859-546G>A" "r.spl" "p.[Phe287Tyrfs*33,=]" "7i"
"0000932145" "00001847" "50" "4253" "43" "4253" "43" "c.4253+43G>A" "r.spl" "p.[=,Ile1377Hisfs*3]" "28i"
"0000932146" "00001847" "70" "3329" "-1" "3329" "-1" "c.3329-1G>A" "r.spl" "p.?" "2i"
"0000932147" "00001847" "50" "6283" "-78" "6283" "-78" "c.6283-78G>T" "r.spl" "p.[=,Asp2095Aspfs*12]" "45i"
"0000932148" "00001847" "90" "2971" "0" "2971" "0" "c.2971G>C" "r.(?)" "p.(Gly991Arg)" "20"
"0000932149" "00001847" "90" "1648" "0" "1648" "0" "c.1648G>A" "r.(?)" "p.(Gly550Arg)" "12"
"0000932150" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000932151" "00001847" "90" "1648" "0" "1648" "0" "c.1648G>A" "r.(?)" "p.(Gly550Arg)" "12"
"0000932152" "00001847" "50" "4253" "43" "4253" "43" "c.4253+43G>A" "r.spl" "p.[=,Ile1377Hisfs*3]" "28i"
"0000932153" "00001847" "50" "1411" "0" "1411" "0" "c.1411G>A" "r.(?)" "p.(Glu471Lys)" "11"
"0000932154" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.spl" "p.Leu257Valfs*17" "6"
"0000932155" "00001847" "90" "2041" "0" "2041" "0" "c.2041C>T" "r.(?)" "p.(Arg681*)" "14"
"0000932156" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.(Gly863Ala)" "17"
"0000932157" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.spl" "p.Leu257Valfs*17" "6"
"0000932158" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000932159" "00001847" "90" "5196" "1056" "5196" "1056" "c.5196+1056A>G" "r.spl" "p.Met1733Valfs*2" "36i"
"0000932160" "00001847" "50" "587" "0" "587" "0" "c.587C>T" "r.(?)" "p.(Pro196Leu)" "6"
"0000932161" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000932162" "00001847" "90" "4234" "0" "4234" "0" "c.4234C>T" "r.(?)" "p.(Gln1412*)" "28"
"0000932163" "00001847" "90" "1957" "0" "1957" "0" "c.1957C>T" "r.(?)" "p.(Arg653Cys)" "14"
"0000932164" "00001847" "90" "5196" "1056" "5196" "1056" "c.5196+1056A>G" "r.spl" "p.Met1733Valfs*2" "36i"
"0000932165" "00001847" "90" "885" "0" "885" "0" "c.885del" "r.(?)" "p.(Leu296Cysfs*4)" "8"
"0000932166" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000932167" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000932168" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000932169" "00001847" "90" "4919" "0" "4919" "0" "c.4919G>A" "r.(?)" "p.(Arg1640Gln)" "35"
"0000932170" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000932171" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000932172" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000932173" "00001847" "90" "52" "0" "52" "0" "c.52C>T" "r.(?)" "p.(Arg18Trp)" "1"
"0000932174" "00001847" "50" "2096" "0" "2096" "0" "c.2096C>A" "r.(?)" "p.(Thr699Asn)" "14"
"0000932175" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.(Gly863Ala)" "17"
"0000932176" "00001847" "90" "247" "0" "250" "0" "c.247_250dup" "r.(?)" "p.(Ser84Thrfs*16)" "3"
"0000932177" "00001847" "90" "1957" "0" "1957" "0" "c.1957C>T" "r.(?)" "p.(Arg653Cys)" "14"
"0000932178" "00001847" "90" "286" "0" "286" "0" "c.286A>G" "r.(?)" "p.(Asn96Asp)" "3"
"0000932179" "00001847" "50" "5942" "0" "5942" "0" "c.5942C>G" "r.(?)" "p.(Thr1981Arg)" "43"
"0000932180" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000932181" "00001847" "50" "5942" "0" "5942" "0" "c.5942C>G" "r.(?)" "p.(Thr1981Arg)" "43"
"0000932182" "00001847" "70" "5384" "0" "5384" "0" "c.5384T>G" "r.(?)" "p.(Leu1795*)" "38"
"0000932183" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000932184" "00001847" "90" "2626" "0" "2626" "0" "c.2626C>T" "r.(?)" "p.(Gln876*)" "17"
"0000932185" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000932186" "00001847" "90" "4947" "0" "4947" "0" "c.4947del" "r.(?)" "p.(Glu1650Argfs*12)" "35"
"0000932187" "00001847" "30" "317" "0" "317" "0" "c.317A>T" "r.(?)" "p.(Tyr106Phe)" "4"
"0000932188" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000932189" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000932190" "00001847" "90" "1988" "0" "1988" "0" "c.1988G>A" "r.(?)" "p.(Trp663*)" "14"
"0000932191" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000932192" "00001847" "90" "1819" "0" "1819" "0" "c.1819G>A" "r.(?)" "p.(Gly607Arg)" "13"
"0000932193" "00001847" "90" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" "35"
"0000932194" "00001847" "70" "868" "0" "868" "0" "c.868C>T" "r.(?)" "p.(Arg290Trp)" "8"
"0000932195" "00001847" "70" "5512" "0" "5512" "0" "c.5512C>G" "r.(?)" "p.(His1838Asp)" "39"
"0000932196" "00001847" "70" "5380" "0" "5380" "0" "c.5380G>C" "r.(?)" "p.(Ala1794Pro)" "38"
"0000932197" "00001847" "50" "970" "0" "970" "0" "c.970T>C" "r.(?)" "p.(Cys324Arg)" "8"
"0000932198" "00001847" "50" "2701" "0" "2701" "0" "c.2701A>G" "r.(?)" "p.(Thr901Ala)" "18"
"0000932199" "00001847" "50" "5351" "0" "5351" "0" "c.5351T>G" "r.(?)" "p.(Leu1784Arg)" "38"
"0000932200" "00001847" "90" "859" "-25" "859" "-25" "c.859-25A>G" "r.spl" "p.[(Phe287Hisfs*7,Phe287Tyrfs*33,Phe287Leufs*3)]" "7i"
"0000932201" "00001847" "70" "3050" "5" "3050" "5" "c.3050+5G>A" "r.spl" "p.Leu973_His1017delinsPhe" "20i"
"0000932202" "00001847" "90" "859" "-25" "859" "-25" "c.859-25A>G" "r.spl" "p.[(Phe287Hisfs*7,Phe287Tyrfs*33,Phe287Leufs*3)]" "7i"
"0000932203" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000932204" "00001847" "70" "4667" "0" "4667" "0" "c.4667G>A" "r.spl" "p.(Ser1545_Gln1555del)" "32"
"0000932205" "00001847" "50" "4254" "-37" "4254" "-15" "c.4254-37_4254-15del" "r.spl?" "p.?" "28"
"0000932206" "00001847" "90" "859" "-25" "859" "-25" "c.859-25A>G" "r.spl" "p.[(Phe287Hisfs*7,Phe287Tyrfs*33,Phe287Leufs*3)]" "7i"
"0000932207" "00001847" "90" "859" "-25" "859" "-25" "c.859-25A>G" "r.spl" "p.[(Phe287Hisfs*7,Phe287Tyrfs*33,Phe287Leufs*3)]" "7i"
"0000932208" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000932209" "00001847" "90" "859" "-25" "859" "-25" "c.859-25A>G" "r.spl" "p.[(Phe287Hisfs*7,Phe287Tyrfs*33,Phe287Leufs*3)]" "7i"
"0000932210" "00001847" "90" "859" "-25" "859" "-25" "c.859-25A>G" "r.spl" "p.[(Phe287Hisfs*7,Phe287Tyrfs*33,Phe287Leufs*3)]" "7i"
"0000932211" "00001847" "50" "3163" "0" "3163" "0" "c.3163C>T" "r.(?)" "p.(Arg1055Trp)" "21"
"0000932212" "00001847" "50" "262" "0" "262" "0" "c.262G>A" "r.(?)" "p.(Gly88Arg)" "3"
"0000932213" "00001847" "90" "4462" "0" "4462" "0" "c.4462T>C" "r.(?)" "p.(Cys1488Arg)" "30"
"0000932214" "00001847" "50" "4765" "0" "4765" "0" "c.4765G>A" "r.(?)" "p.(Val1589Met)" "33"
"0000932215" "00001847" "90" "331" "0" "331" "0" "c.331del" "r.(?)" "p.(Glu111Asnfs*4)" "4"
"0000932216" "00001847" "90" "4457" "0" "4457" "0" "c.4457C>T" "r.(?)" "p.(Pro1486Leu)" "30"
"0000932217" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000932218" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000932219" "00001847" "90" "331" "0" "331" "0" "c.331del" "r.(?)" "p.(Glu111Asnfs*4)" "4"
"0000932220" "00001847" "90" "4537" "0" "4537" "0" "c.4537dup" "r.(?)" "p.(Gln1513Profs*42)" "30"
"0000932221" "00001847" "90" "3050" "5" "3050" "5" "c.3050+5G>A" "r.spl" "p.Leu973_His1017delinsPhe" "20i"
"0000932222" "00001847" "50" "4417" "0" "4417" "0" "c.4417C>A" "r.(?)" "p.(Leu1473Met)" "30"
"0000932223" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000932224" "00001847" "90" "4947" "0" "4947" "0" "c.4947del" "r.(?)" "p.(Glu1650Argfs*12)" "35"
"0000932225" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000932226" "00001847" "70" "3939" "0" "3940" "0" "c.3939_3940del" "r.(?)" "p.(Gln1315Glyfs*106)" "27"
"0000932227" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000932228" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000932229" "00001847" "50" "1532" "0" "1532" "0" "c.1532G>A" "r.(?)" "p.(Arg511His)" "11"
"0000932230" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000932231" "00001847" "70" "2549" "0" "2549" "0" "c.2549A>G" "r.(?)" "p.(Tyr850Cys)" "16"
"0000932232" "00001847" "50" "4793" "0" "4793" "0" "c.4793C>A" "r.(?)" "p.(Ala1598Asp)" "34"
"0000932233" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000932234" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000932235" "00001847" "90" "6658" "0" "6658" "0" "c.6658C>T" "r.(?)" "p.(Gln2220*)" "48"
"0000932236" "00001847" "90" "3754" "0" "3754" "0" "c.3754G>T" "r.(?)" "p.(Glu1252*)" "25"
"0000932237" "00001847" "70" "1519" "0" "1519" "0" "c.1519G>T" "r.(?)" "p.(Asp507Tyr)" "11"
"0000932238" "00001847" "50" "4253" "43" "4253" "43" "c.4253+43G>A" "r.spl" "p.[=,Ile1377Hisfs*3]" "28i"
"0000932239" "00001847" "90" "4363" "0" "4363" "0" "c.4363T>C" "r.(?)" "p.(Cys1455Arg)" "30"
"0000932240" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000932241" "00001847" "90" "3056" "0" "3056" "0" "c.3056C>T" "r.(?)" "p.(Thr1019Met)" "21"
"0000932242" "00001847" "90" "161" "0" "161" "0" "c.161G>A" "r.spl" "p.[Cys54Serfs*14,Cys54Tyr]" "3"
"0000932243" "00001847" "90" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000932244" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000932245" "00001847" "50" "185" "0" "185" "0" "c.185C>T" "r.(?)" "p.(Pro62Leu)" "3"
"0000932246" "00001847" "70" "5113" "0" "5113" "0" "c.5113C>T" "r.(?)" "p.(Arg1705Trp)" "36"
"0000932247" "00001847" "90" "3056" "0" "3056" "0" "c.3056C>T" "r.(?)" "p.(Thr1019Met)" "21"
"0000932248" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000932249" "00001847" "90" "4539" "2028" "4539" "2028" "c.4539+2028C>T" "r.spl" "p.[=,Arg1514Leufs*36]" "30i"
"0000932250" "00001847" "50" "4253" "43" "4253" "43" "c.4253+43G>A" "r.spl" "p.[=,Ile1377Hisfs*3]" "28i"
"0000932251" "00001847" "90" "3056" "0" "3056" "0" "c.3056C>T" "r.(?)" "p.(Thr1019Met)" "21"
"0000932252" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000932253" "00001847" "90" "161" "0" "161" "0" "c.161G>A" "r.spl" "p.[Cys54Serfs*14,Cys54Tyr]" "3"
"0000932254" "00001847" "70" "2382" "1" "2382" "1" "c.2382+1dup" "r.spl" "p.?" "15"
"0000932255" "00001847" "70" "4957" "0" "4957" "0" "c.4957G>A" "r.(?)" "p.(Gly1653Arg)" "35"
"0000932256" "00001847" "50" "3137" "0" "3137" "0" "c.3137T>G" "r.(?)" "p.(Leu1046Trp)" "21"
"0000932257" "00001847" "50" "2701" "0" "2701" "0" "c.2701A>G" "r.(?)" "p.(Thr901Ala)" "18"
"0000932258" "00001847" "90" "4320" "0" "4320" "0" "c.4320del" "r.(?)" "p.(Phe1440Leufs*6)" "29"
"0000932259" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000932260" "00001847" "90" "1906" "0" "1906" "0" "c.1906C>T" "r.(?)" "p.(Gln636*)" "13"
"0000932261" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.[=,Glu1863Leufs*33]" "40i"
"0000932262" "00001847" "90" "859" "-25" "859" "-25" "c.859-25A>G" "r.spl" "p.[(Phe287Hisfs*7,Phe287Tyrfs*33,Phe287Leufs*3)]" "7i"
"0000932263" "00001847" "70" "1715" "0" "1715" "0" "c.1715G>A" "r.(?)" "p.(Arg572Gln)" "12"
"0000932264" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000932265" "00001847" "90" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000932266" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.(Gly863Ala)" "17"
"0000932267" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000932268" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000932269" "00001847" "90" "1814" "0" "1814" "0" "c.1814G>A" "r.(?)" "p.(Trp605*)" "13"
"0000932270" "00001847" "50" "2930" "0" "2930" "0" "c.2930C>T" "r.(?)" "p.(Thr977Met)" "20"
"0000932271" "00001847" "90" "4539" "2064" "4539" "2064" "c.4539+2064C>T" "r.spl" "p.[=,Arg1514Leufs*36]" "30i"
"0000932272" "00001847" "90" "5196" "1056" "5196" "1056" "c.5196+1056A>G" "r.spl" "p.Met1733Valfs*2" "36i"
"0000932273" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000932274" "00001847" "50" "4539" "1964" "4539" "1964" "c.4539+1964G>T" "r.spl" "p.[(Gln1513_Arg 1514insX[24])]" "30i"
"0000932275" "00001847" "90" "3874" "0" "3874" "0" "c.3874C>T" "r.(?)" "p.(Gln1292*)" "27"
"0000932276" "00001847" "90" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071Cysfs*14)" "22"
"0000932277" "00001847" "50" "2701" "0" "2701" "0" "c.2701A>G" "r.(?)" "p.(Thr901Ala)" "18"
"0000932278" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000932279" "00001847" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408*)" "9"
"0000932280" "00001847" "90" "3191" "-1" "3191" "-1" "c.3191-1G>T" "r.spl" "p.?" "21i"
"0000932281" "00001847" "90" "5196" "1056" "5196" "1056" "c.5196+1056A>G" "r.spl" "p.Met1733Valfs*2" "36i"
"0000932282" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.spl" "p.Leu257Valfs*17" "6"
"0000932283" "00001847" "90" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000932284" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.(Gly863Ala)" "17"
"0000932285" "00001847" "70" "1715" "0" "1715" "0" "c.1715G>A" "r.(?)" "p.(Arg572Gln)" "12"
"0000932286" "00001847" "70" "1715" "0" "1715" "0" "c.1715G>A" "r.(?)" "p.(Arg572Gln)" "12"
"0000932287" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.(Gly863Ala)" "17"
"0000932288" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.(Gly863Ala)" "17"
"0000932289" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000932290" "00001847" "50" "3352" "0" "3352" "0" "c.3352C>G" "r.(?)" "p.(His1118Asp)" "23"
"0000932291" "00001847" "90" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" "31"
"0000932292" "00001847" "90" "4222" "0" "4222" "0" "c.4222T>C" "r.(?)" "p.(Trp1408Arg)" "28"
"0000932293" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000932294" "00001847" "90" "1317" "0" "1317" "0" "c.1317G>A" "r.(?)" "p.(Trp439*)" "10"
"0000932295" "00001847" "90" "1317" "0" "1317" "0" "c.1317G>A" "r.(?)" "p.(Trp439*)" "10"
"0000932296" "00001847" "90" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000932297" "00001847" "90" "655" "0" "655" "0" "c.655A>T" "r.(?)" "p.(Arg219*)" "6"
"0000932298" "00001847" "70" "1715" "0" "1715" "0" "c.1715G>A" "r.(?)" "p.(Arg572Gln)" "12"
"0000932299" "00001847" "90" "161" "0" "161" "0" "c.161G>A" "r.spl" "p.[Cys54Serfs*14,Cys54Tyr]" "3"
"0000932300" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000932301" "00001847" "70" "1519" "0" "1519" "0" "c.1519G>T" "r.(?)" "p.(Asp507Tyr)" "11"
"0000932302" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.(Gly863Ala)" "17"
"0000932303" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.(Gly863Ala)" "17"
"0000932304" "00001847" "90" "3323" "0" "3323" "0" "c.3323G>A" "r.(?)" "p.(Arg1108His)" "22"
"0000932305" "00001847" "90" "2041" "0" "2041" "0" "c.2041C>T" "r.(?)" "p.(Arg681*)" "14"
"0000932306" "00001847" "90" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" "31"
"0000932307" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.(Gly863Ala)" "17"
"0000932308" "00001847" "90" "161" "0" "161" "0" "c.161G>A" "r.spl" "p.[Cys54Serfs*14,Cys54Tyr]" "3"
"0000932309" "00001847" "90" "161" "0" "161" "0" "c.161G>A" "r.spl" "p.[Cys54Serfs*14,Cys54Tyr]" "3"
"0000932310" "00001847" "90" "161" "0" "161" "0" "c.161G>A" "r.spl" "p.[Cys54Serfs*14,Cys54Tyr]" "3"
"0000932311" "00001847" "90" "161" "0" "161" "0" "c.161G>A" "r.spl" "p.[Cys54Serfs*14,Cys54Tyr]" "3"
"0000932312" "00001847" "50" "1817" "0" "1817" "0" "c.1817G>A" "r.(?)" "p.(Gly606Asp)" "13"
"0000932313" "00001847" "70" "688" "0" "688" "0" "c.688T>A" "r.(?)" "p.(Cys230Ser)" "6"
"0000932314" "00001847" "50" "514" "0" "514" "0" "c.514G>A" "r.(?)" "p.(Gly172Ser)" "5"
"0000932315" "00001847" "90" "6445" "0" "6445" "0" "c.6445C>T" "r.(?)" "p.(Arg2149*)" "47"
"0000932316" "00001847" "90" "1293" "0" "1293" "0" "c.1293G>A" "r.(?)" "p.(Trp431*)" "10"
"0000932317" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000932318" "00001847" "90" "6416" "0" "6416" "0" "c.6416G>A" "r.(?)" "p.(Arg2139Gln)" "47"
"0000932319" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000932320" "00001847" "90" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973*)" "43"
"0000932321" "00001847" "70" "2264" "0" "2264" "0" "c.2264T>C" "r.(?)" "p.(Phe755Ser)" "15"
"0000932322" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000932323" "00001847" "90" "1805" "0" "1805" "0" "c.1805G>A" "r.(?)" "p.(Arg602Gln)" "13"
"0000932324" "00001847" "70" "2791" "0" "2791" "0" "c.2791G>A" "r.(?)" "p.(Val931Met)" "19"
"0000932325" "00001847" "90" "4895" "0" "4895" "0" "c.4895dup" "r.(?)" "p.(Asn1632Lysfs*14)" "35"
"0000932326" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000932327" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000932328" "00001847" "70" "1846" "0" "1846" "0" "c.1846G>A" "r.(?)" "p.(Glu616Lys)" "13"
"0000932329" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000932330" "00001847" "90" "4594" "0" "4594" "0" "c.4594G>A" "r.(?)" "p.(Asp1532Asn)" "31"
"0000932331" "00001847" "70" "3050" "5" "3050" "5" "c.3050+5G>A" "r.spl" "p.Leu973_His1017delinsPhe" "20I"
"0000932332" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000932333" "00001847" "90" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" "35"
"0000932334" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000932335" "00001847" "70" "5380" "0" "5380" "0" "c.5380G>C" "r.(?)" "p.(Ala1794Pro)" "38"
"0000932336" "00001847" "50" "262" "0" "262" "0" "c.262G>A" "r.(?)" "p.(Gly88Arg)" "3"
"0000932337" "00001847" "90" "1834" "0" "1834" "0" "c.1834C>T" "r.(?)" "p.(Gln612*)" "13"
"0000932338" "00001847" "90" "2160" "1" "2160" "1" "c.2160+1G>T" "r.spl" "p.?" "14i"
"0000932339" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.spl" "p.Leu257Valfs*17" "6"
"0000932340" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000932341" "00001847" "50" "768" "6839" "858" "66" "c.768+6839_858+66dup" "r.spl" "p.(Glu286_Phe287insLeu257_Glu286)" "7"
"0000932342" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000932343" "00001847" "50" "1958" "0" "1958" "0" "c.1958G>T" "r.(?)" "p.(Arg653Leu)" "14"
"0000932344" "00001847" "90" "859" "-25" "859" "-25" "c.859-25A>G" "r.spl" "p.[(Phe287Hisfs*7,Phe287Tyrfs*33,Phe287Leufs*3)]" "7i"
"0000932345" "00001847" "70" "868" "0" "868" "0" "c.868C>T" "r.(?)" "p.(Arg290Trp)" "8"
"0000932346" "00001847" "50" "3449" "0" "3451" "0" "c.3449_3451del" "r.(?)" "p.(Cys1150del)" "23"
"0000932347" "00001847" "50" "1958" "0" "1958" "0" "c.1958G>T" "r.(?)" "p.(Arg653Leu)" "14"
"0000932348" "00001847" "90" "859" "-25" "859" "-25" "c.859-25A>G" "r.spl" "p.[(Phe287Hisfs*7,Phe287Tyrfs*33,Phe287Leufs*3)]" "7i"
"0000932349" "00001847" "30" "769" "-784" "769" "-784" "c.769-784C>T" "r.spl" "p.[=,Leu257Aspfs*3]" "6i"
"0000932350" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.(Gly863Ala)" "17"
"0000932351" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000932352" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000932353" "00001847" "90" "5537" "0" "5537" "0" "c.5537T>C" "r.(?)" "p.(Ile1846Thr)" "39"
"0000932354" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000932355" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000932356" "00001847" "50" "1411" "0" "1411" "0" "c.1411G>A" "r.(?)" "p.(Glu471Lys)" "11"
"0000932357" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.spl" "p.Leu257Valfs*17" "6"
"0000932358" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000932359" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.(Gly863Ala)" "17"
"0000932360" "00001847" "70" "442" "1194" "571" "-1399" "c.442+1194_571-1399del" "r.spl" "p.Gly148Valfs*89" "5"
"0000932361" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.spl" "p.Leu257Valfs*17" "6"
"0000932362" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000932363" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.(Gly863Ala)" "17"
"0000932364" "00001847" "90" "1822" "0" "1822" "0" "c.1822T>A" "r.(?)" "p.(Phe608Ile)" "13"
"0000932365" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.spl" "p.Leu257Valfs*17" "6"
"0000932366" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.(Gly863Ala)" "17"
"0000932367" "00001847" "70" "872" "0" "872" "0" "c.872C>T" "r.(?)" "p.(Pro291Leu)" "8"
"0000932368" "00001847" "50" "1411" "0" "1411" "0" "c.1411G>A" "r.(?)" "p.(Glu471Lys)" "11"
"0000932369" "00001847" "90" "3874" "0" "3874" "0" "c.3874C>T" "r.(?)" "p.(Gln1292*)" "27"
"0000932370" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.(Gly863Ala)" "17"
"0000932371" "00001847" "50" "4730" "0" "4732" "0" "c.4730_4732del" "r.(?)" "p.(Val1577del)" "33"
"0000932372" "00001847" "70" "872" "0" "872" "0" "c.872C>T" "r.(?)" "p.(Pro291Leu)" "8"
"0000932373" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.(Gly863Ala)" "17"
"0000932374" "00001847" "90" "470" "0" "470" "0" "c.470T>A" "r.(?)" "p.(Leu157*)" "5"
"0000932375" "00001847" "90" "3259" "0" "3259" "0" "c.3259G>A" "r.(?)" "p.(Glu1087Lys)" "22"
"0000932376" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000932377" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000932378" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000932379" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000932380" "00001847" "90" "5537" "0" "5537" "0" "c.5537T>C" "r.(?)" "p.(Ile1846Thr)" "39"
"0000932381" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000932382" "00001847" "70" "2802" "0" "2804" "0" "c.2802_2804del" "r.(?)" "p.(Val935del)" "19"
"0000932383" "00001847" "90" "4773" "1" "4773" "1" "c.4773+1G>A" "r.spl" "p.?" "33I"
"0000932384" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000932385" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.(Gly863Ala)" "17"
"0000932386" "00001847" "50" "4297" "0" "4297" "0" "c.4297G>A" "r.(?)" "p.(Val1433Ile)" "29"
"0000932387" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000932388" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000932389" "00001847" "50" "656" "0" "656" "0" "c.656G>C" "r.(?)" "p.(Arg219Thr)" "6"
"0000932390" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000932391" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.(Gly863Ala)" "17"
"0000932392" "00001847" "90" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000932393" "00001847" "90" "4537" "0" "4537" "0" "c.4537dup" "r.(?)" "p.(Gln1513Profs*42)" "30"
"0000932394" "00001847" "50" "3608" "0" "3608" "0" "c.3608G>A" "r.(?)" "p.(Gly1203Glu)" "25"
"0000932395" "00001847" "90" "4537" "0" "4537" "0" "c.4537del" "r.(?)" "p.(Gln1513Argfs*13)" "3"
"0000932396" "00001847" "90" "6155" "0" "6155" "0" "c.6155del" "r.(?)" "p.(Asn2052Thrfs*9)" "45"
"0000932397" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000932398" "00001847" "70" "4225" "0" "4225" "0" "c.4225A>G" "r.(?)" "p.(Ile1409Val)" "28"
"0000932399" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000932400" "00001847" "70" "6454" "0" "6454" "0" "c.6454G>T" "r.(?)" "p.(Gly2152Cys)" "47"
"0000932401" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000932402" "00001847" "70" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000932403" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000932404" "00001847" "90" "4849" "-1" "4849" "-1" "c.4849-1G>A" "r.spl" "p.?" "34i"
"0000932405" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000932406" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000932407" "00001847" "90" "6088" "0" "6088" "0" "c.6088C>T" "r.(?)" "p.(Arg2030*)" "44"
"0000932408" "00001847" "90" "6179" "0" "6179" "0" "c.6179T>G" "r.(?)" "p.(Leu2060Arg)" "45"
"0000932409" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000932410" "00001847" "90" "2654" "-23" "2654" "-23" "c.2654-23A>C" "r.spl" "p.(Gly885Alafs*48)" "17i"
"0000932411" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000932412" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000932413" "00001847" "70" "6416" "0" "6416" "0" "c.6416G>C" "r.(?)" "p.(Arg2139Pro)" "47"
"0000932414" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000932415" "00001847" "50" "4771" "0" "4771" "0" "c.4771G>A" "r.(?)" "p.(Gly1591Arg)" "33"
"0000932416" "00001847" "90" "4981" "0" "4981" "0" "c.4981del" "r.(?)" "p.(Leu1661*)" "35"
"0000932417" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000932418" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000932419" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.[Gly863Ala,Gly863del]" "17"
"0000932420" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000932421" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000932422" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000932423" "00001847" "90" "4594" "0" "4594" "0" "c.4594G>A" "r.(?)" "p.(Asp1532Asn)" "31"
"0000932424" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000932425" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.[Gly863Ala,Gly863del]" "17"
"0000932426" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.[Gly863Ala,Gly863del]" "17"
"0000932427" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000932428" "00001847" "50" "3758" "0" "3758" "0" "c.3758C>T" "r.(?)" "p.(Thr1253Met)" "25"
"0000932429" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000932430" "00001847" "70" "4169" "0" "4169" "0" "c.4169T>C" "r.(?)" "p.(Ala1357Val)" "28"
"0000932431" "00001847" "90" "4070" "0" "4070" "0" "c.4070C>T" "r.(?)" "p.(Leu1390Pro)" "27"
"0000932432" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000932433" "00001847" "90" "4224" "0" "4224" "0" "c.4224G>A" "r.(?)" "p.(Trp1408*)" "28"
"0000932434" "00001847" "90" "859" "-9" "859" "-9" "c.859-9T>C" "r.spl" "p.[=,Phe287_Arg452del]" "7i"
"0000932435" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000932436" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000932437" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000932438" "00001847" "90" "4594" "0" "4594" "0" "c.4594G>A" "r.(?)" "p.(Asp1532Asn)" "31"
"0000932439" "00001847" "90" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" "35"
"0000932440" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000932441" "00001847" "50" "5687" "0" "5687" "0" "c.5687T>A" "r.(?)" "p.(Val1896Asp)" "40"
"0000932442" "00001847" "90" "4773" "0" "4773" "0" "c.4773G>T" "r.spl" "p.[(=,Tyr1557Alafs*18)]" "33"
"0000932443" "00001847" "50" "4793" "0" "4793" "0" "c.4793C>A" "r.(?)" "p.(Ala1598Asp)" "34"
"0000932444" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000932445" "00001847" "50" "4253" "43" "4253" "43" "c.4253+43G>A" "r.spl" "p.[=,Ile1377Hisfs*3]" "28i"
"0000932446" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000932447" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000932448" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.(Gly863Ala)" "17"
"0000932449" "00001847" "70" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000932450" "00001847" "50" "2919" "-774" "2919" "-774" "c.2919-774A>G" "r.spl" "p.[(Leu973Phefs*3,=)]" "19i"
"0000932451" "00001847" "50" "161" "-395" "161" "-395" "c.161-395G>A" "r.spl" "p.[(Cys54Serfs*14,=,Cys54Cysfs*75)]" "2i"
"0000932452" "00001847" "90" "5929" "0" "5929" "0" "c.5929G>A" "r.(?)" "p.(Gly1977Ser)" "43"
"0000932453" "00001847" "90" "5961" "0" "5964" "0" "c.5961_5964del" "r.(?)" "p.(Asp1988Profs*3)" "43"
"0000932454" "00001847" "50" "5959" "0" "5959" "0" "c.5959G>T" "r.(?)" "p.(Gly1987Trp)" "43"
"0000932455" "00001847" "90" "3259" "0" "3259" "0" "c.3259G>A" "r.(?)" "p.(Glu1087Lys)" "22"
"0000932456" "00001847" "90" "4354" "0" "4354" "0" "c.4354G>T" "r.(?)" "p.(Glu1452*)" "30"
"0000932457" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000932458" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000932459" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000932460" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000932461" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000932462" "00001847" "70" "4667" "507" "4849" "-94" "c.4667+507_4849-94del" "r.spl" "p.Tyr1557Cysfs*45" "32i_34i"
"0000932463" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000932464" "00001847" "90" "6088" "0" "6088" "0" "c.6088C>T" "r.(?)" "p.(Arg2030*)" "44"
"0000932465" "00001847" "90" "5961" "0" "5964" "0" "c.5961_5964del" "r.(?)" "p.(Asp1988Profs*3)" "43"
"0000932466" "00001847" "50" "5959" "0" "5959" "0" "c.5959G>T" "r.(?)" "p.(Gly1987Trp)" "43"
"0000932467" "00001847" "90" "3862" "1" "3862" "1" "c.3862+1G>A" "r.spl" "p.?" "26i"
"0000932468" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000932469" "00001847" "50" "3999" "0" "4000" "0" "c.3999_4000insACCCCAGAGCCAGAGTGCCAGCCT" "r.(?)" "p.(Pro1333_Pro1334insThrProGluProGluCysGlnPro)" "27"
"0000932470" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000932471" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000932472" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000932473" "00001847" "70" "6721" "0" "6721" "0" "c.6721C>G" "r.(?)" "p.(Leu2241Val)" "48"
"0000932474" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.[=,Glu1863Leufs*33]" "40i"
"0000932475" "00001847" "70" "5413" "0" "5413" "0" "c.5413A>G" "r.(?)" "p.(Asn1805Asp)" "38"
"0000932476" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000932477" "00001847" "90" "1375" "0" "1375" "0" "c.1375del" "r.(?)" "p.(Thr459Glnfs*2)" "11"
"0000932478" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.[=,Glu1863Leufs*33]" "40i"
"0000932479" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000932480" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000932481" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000932482" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000932483" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000932484" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000932485" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.[=,Glu1863Leufs*33]" "40i"
"0000932486" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000932487" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000932488" "00001847" "50" "4253" "43" "4253" "43" "c.4253+43G>A" "r.spl" "p.[=,Ile1377Hisfs*3]" "28i"
"0000932489" "00001847" "50" "4253" "43" "4253" "43" "c.4253+43G>A" "r.spl" "p.[=,Ile1377Hisfs*3]" "28i"
"0000932490" "00001847" "50" "4253" "43" "4253" "43" "c.4253+43G>A" "r.spl" "p.[=,Ile1377Hisfs*3]" "28i"
"0000932491" "00001847" "50" "3449" "0" "3449" "0" "c.3449G>A" "r.(?)" "p.(Cys1150Tyr)" "23"
"0000932492" "00001847" "70" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000932493" "00001847" "90" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.spl" "p.[=,Met1733Glufs*78]" "36i"
"0000932494" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000932495" "00001847" "90" "4539" "2001" "4539" "2001" "c.4539+2001G>A" "r.spl" "p.[=,Arg1514Leufs*36]" "30i"
"0000932496" "00001847" "90" "5018" "2" "5018" "2" "c.5018+2T>A" "r.spl" "p.?" "35i"
"0000932497" "00001847" "50" "4253" "43" "4253" "43" "c.4253+43G>A" "r.spl" "p.[=,Ile1377Hisfs*3]" "28i"
"0000932498" "00001847" "50" "6816" "0" "6816" "0" "c.6816G>A" "r.spl" "p.[(=,Val2244_Gln2272del)]" "49"
"0000932499" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000932500" "00001847" "90" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.spl" "p.[=,Met1733Glufs*78]" "36i"
"0000932501" "00001847" "50" "4253" "43" "4253" "43" "c.4253+43G>A" "r.spl" "p.[=,Ile1377Hisfs*3]" "28i"
"0000932502" "00001847" "50" "6387" "-15" "6387" "-12" "c.6387-15_6387-12del" "r.spl" "p.[(=,Ser2129Argfs*30)]" "46i"
"0000932503" "00001847" "50" "4771" "0" "4771" "0" "c.4771G>A" "r.(?)" "p.(Gly1591Arg)" "33"
"0000932504" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.[Gly863Ala,Gly863del]" "17"
"0000932505" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000932506" "00001847" "50" "6283" "-321" "6283" "-321" "c.6283-321C>G" "r.spl" "p.[(=,Leu2094_Asp2095ins*58,Leu2094_Asp2095ins*117)]" "45i"
"0000932507" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000932508" "00001847" "90" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.spl" "p.[=,Met1733Glufs*78]" "36i"
"0000932509" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000932510" "00001847" "90" "2023" "0" "2023" "0" "c.2023G>A" "r.(?)" "p.(Val675Ile)" "14"
"0000932511" "00001847" "70" "6463" "0" "6463" "0" "c.6463C>T" "r.(?)" "p.(Gln2155*)" "47"
"0000932512" "00001847" "70" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000932513" "00001847" "90" "3364" "0" "3364" "0" "c.3364G>A" "r.(?)" "p.(Glu1122Lys)" "23"
"0000932514" "00001847" "70" "5087" "0" "5087" "0" "c.5087G>A" "r.(?)" "p.(Ser1696Asn)" "36"
"0000932515" "00001847" "70" "6729" "5" "6729" "19" "c.6729+5_6729+19del" "r.spl" "p.Phe2161Cysfs*3" "48i"
"0000932516" "00001847" "70" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000932517" "00001847" "90" "6238" "0" "6239" "0" "c.6238_6239del" "r.(?)" "p.(Ser2080Hisfs*16)" "45"
"0000932518" "00001847" "50" "4253" "43" "4253" "43" "c.4253+43G>A" "r.spl" "p.[=,Ile1377Hisfs*3]" "28i"
"0000932519" "00001847" "90" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" "35"
"0000932520" "00001847" "50" "161" "-395" "161" "-395" "c.161-395G>A" "r.spl" "p.[(Cys54Serfs*14,=,Cys54Cysfs*75)]" "2i"
"0000932521" "00001847" "50" "4253" "43" "4253" "43" "c.4253+43G>A" "r.spl" "p.[=,Ile1377Hisfs*3]" "28i"
"0000932522" "00001847" "90" "5899" "-2" "5899" "-2" "c.5899-2del" "r.spl" "p.?" "42i"
"0000932523" "00001847" "50" "4253" "43" "4253" "43" "c.4253+43G>A" "r.spl" "p.[=,Ile1377Hisfs*3]" "28i"
"0000932524" "00001847" "90" "6445" "0" "6445" "0" "c.6445C>T" "r.(?)" "p.(Arg2149*)" "47"
"0000932525" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.[Gly863Ala,Gly863del]" "17"
"0000932526" "00001847" "90" "6386" "2" "6386" "2" "c.6386+2C>G" "r.spl" "p.?" "46i"
"0000932527" "00001847" "90" "4234" "0" "4234" "0" "c.4234C>T" "r.(?)" "p.(Gln1412*)" "28"
"0000932528" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000932529" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000932530" "00001847" "90" "5018" "2" "5018" "2" "c.5018+2T>A" "r.spl" "p.?" "35i"
"0000932531" "00001847" "90" "4359" "0" "4359" "0" "c.4359C>A" "r.(?)" "p.(Tyr1453*)" "30"
"0000932532" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000932533" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000932534" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000932535" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000932536" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000932537" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000932538" "00001847" "50" "6446" "0" "6446" "0" "c.6446G>T" "r.(?)" "p.(Arg2149Leu)" "47"
"0000932539" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000932540" "00001847" "70" "6721" "0" "6721" "0" "c.6721C>G" "r.(?)" "p.(Leu2241Val)" "48"
"0000932541" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000932542" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000932543" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000932544" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000932545" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000932546" "00001847" "70" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000932547" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000932548" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000932549" "00001847" "50" "6283" "-321" "6283" "-321" "c.6283-321C>G" "r.spl" "p.[(=,Leu2094_Asp2095ins*58,Leu2094_Asp2095ins*117)]" "45i"
"0000932550" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000932551" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000932552" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000932553" "00001847" "70" "2161" "-8" "2161" "-8" "c.2161-8G>A" "r.spl" "p.[His721_Val794del,=]" "14i"
"0000932554" "00001847" "90" "2461" "0" "2461" "0" "c.2461T>A" "r.(?)" "p.(Trp821Arg)" "16"
"0000932555" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000932556" "00001847" "90" "4352" "1" "4352" "1" "c.4352+1G>A" "r.spl" "p.?" "29i"
"0000932557" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000932558" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000932559" "00001847" "90" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" "44"
"0000932560" "00001847" "90" "5961" "0" "5964" "0" "c.5961_5964del" "r.(?)" "p.(Asp1988Profs*3)" "43"
"0000932561" "00001847" "50" "5959" "0" "5959" "0" "c.5959G>T" "r.(?)" "p.(Gly1987Trp)" "43"
"0000932562" "00001847" "90" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" "44"
"0000932563" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000932564" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000932565" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000932566" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000932567" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000932568" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000932569" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.[=,Glu1863Leufs*33]" "40i"
"0000932570" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000932571" "00001847" "30" "2875" "0" "2875" "0" "c.2875A>G" "r.(?)" "p.(Thr959Ala)" "19"
"0000932572" "00001847" "70" "2549" "0" "2549" "0" "c.2549A>G" "r.(?)" "p.(Tyr850Cys)" "16"
"0000932573" "00001847" "90" "4667" "5" "4667" "5" "c.4667+5G>T" "r.spl" "p.[(Ser1545_Arg1556delinsArg)]" "32i"
"0000932574" "00001847" "70" "2549" "0" "2549" "0" "c.2549A>G" "r.(?)" "p.(Tyr850Cys)" "16"
"0000932575" "00001847" "90" "4667" "5" "4667" "5" "c.4667+5G>T" "r.spl" "p.[(Ser1545_Arg1556delinsArg)]" "32i"
"0000932576" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000932577" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000932578" "00001847" "70" "2549" "0" "2549" "0" "c.2549A>G" "r.(?)" "p.(Tyr850Cys)" "16"
"0000932579" "00001847" "90" "4667" "5" "4667" "5" "c.4667+5G>T" "r.spl" "p.[(Ser1545_Arg1556delinsArg)]" "32i"
"0000932580" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000932581" "00001847" "70" "2549" "0" "2549" "0" "c.2549A>G" "r.(?)" "p.(Tyr850Cys)" "16"
"0000932582" "00001847" "90" "4667" "5" "4667" "5" "c.4667+5G>T" "r.spl" "p.[(Ser1545_Arg1556delinsArg)]" "32i"
"0000932583" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000932584" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000932585" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000932586" "00001847" "70" "5380" "0" "5380" "0" "c.5380G>C" "r.(?)" "p.(Ala1794Pro)" "38"
"0000932587" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000932588" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000932589" "00001847" "90" "5460" "1" "5460" "1" "c.5460+1G>A" "r.spl" "p.?" "38i"
"0000932590" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000932591" "00001847" "50" "3758" "0" "3758" "0" "c.3758C>T" "r.(?)" "p.(Thr1253Met)" "25"
"0000932592" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000932593" "00001847" "50" "4253" "43" "4253" "43" "c.4253+43G>A" "r.spl" "p.[=,Ile1377Hisfs*3]" "28i"
"0000932594" "00001847" "90" "859" "-25" "859" "-25" "c.859-25A>G" "r.spl" "p.[(Phe287Hisfs*7,Phe287Tyrfs*33,Phe287Leufs*3)]" "7i"
"0000932595" "00001847" "70" "4667" "0" "4667" "0" "c.4667G>A" "r.spl" "p.(Ser1545_Gln1555del)" "32"
"0000932596" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000932597" "00001847" "50" "4253" "43" "4253" "43" "c.4253+43G>A" "r.spl" "p.[=,Ile1377Hisfs*3]" "28i"
"0000932598" "00001847" "50" "4253" "43" "4253" "43" "c.4253+43G>A" "r.spl" "p.[=,Ile1377Hisfs*3]" "28i"
"0000932599" "00001847" "70" "6287" "0" "6287" "0" "c.6287A>G" "r.(?)" "p.(Glu2096Gly)" "46"
"0000932600" "00001847" "70" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000932601" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000932602" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000932603" "00001847" "90" "4457" "0" "4457" "0" "c.4457C>T" "r.(?)" "p.(Pro1486Leu)" "30"
"0000932604" "00001847" "70" "4979" "0" "4979" "0" "c.4979C>T" "r.(?)" "p.(Pro1660Leu)" "35"
"0000932605" "00001847" "90" "4457" "0" "4457" "0" "c.4457C>T" "r.(?)" "p.(Pro1486Leu)" "30"
"0000932606" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000932607" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000932608" "00001847" "50" "3608" "0" "3608" "0" "c.3608G>A" "r.(?)" "p.(Gly1203Glu)" "25"
"0000932609" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000932610" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000932611" "00001847" "50" "3758" "0" "3758" "0" "c.3758C>T" "r.(?)" "p.(Thr1253Met)" "25"
"0000932612" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000932613" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000932614" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000932615" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000932616" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000932617" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000932618" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000932619" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000932620" "00001847" "90" "5196" "1" "5196" "1" "c.5196+1G>A" "r.spl" "p.?" "36i"
"0000932621" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000932622" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000932623" "00001847" "70" "2852" "0" "2852" "0" "c.2852T>C" "r.(?)" "p.(Ile951Thr)" "19"
"0000932624" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000932625" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000932626" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000932627" "00001847" "90" "6098" "0" "6098" "0" "c.6098T>G" "r.(?)" "p.(Leu2033Arg)" "44"
"0000932628" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000932629" "00001847" "90" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000932630" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000932631" "00001847" "50" "550" "0" "551" "0" "c.550_551delinsCG" "r.(?)" "p.(Ser184Arg)" "5"
"0000932632" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000932633" "00001847" "90" "4539" "2028" "4539" "2028" "c.4539+2028C>T" "r.spl" "p.[=,Arg1514Leufs*36]" "30i"
"0000932634" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000932635" "00001847" "90" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973*)" "43"
"0000932636" "00001847" "90" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000932637" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000932638" "00001847" "90" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000932639" "00001847" "50" "6472" "0" "6472" "0" "c.6472A>G" "r.(?)" "p.(Lys2158Glu)" "47"
"0000932640" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000932641" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000932642" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000932643" "00001847" "50" "4771" "0" "4771" "0" "c.4771G>A" "r.(?)" "p.(Gly1591Arg)" "33"
"0000932644" "00001847" "50" "466" "0" "466" "0" "c.466A>G" "r.(?)" "p.(Ile156Val)" "5"
"0000932645" "00001847" "90" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" "31"
"0000932646" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000932647" "00001847" "90" "6098" "0" "6098" "0" "c.6098T>G" "r.(?)" "p.(Leu2033Arg)" "44"
"0000932648" "00001847" "90" "5929" "0" "5929" "0" "c.5929G>A" "r.(?)" "p.(Gly1977Ser)" "43"
"0000932649" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.[=,Glu1863Leufs*33]" "40i"
"0000932650" "00001847" "90" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" "35"
"0000932651" "00001847" "90" "4222" "0" "4222" "0" "c.4222T>C" "r.(?)" "p.(Trp1408Arg)" "28"
"0000932652" "00001847" "90" "6449" "0" "6449" "0" "c.6449G>A" "r.(?)" "p.(Cys2150Tyr)" "47"
"0000932653" "00001847" "50" "4861" "0" "4861" "0" "c.4861A>T" "r.(?)" "p.(Asn1621Tyr)" "35"
"0000932654" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000932655" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000932656" "00001847" "50" "2483" "0" "2483" "0" "c.2483C>T" "r.(?)" "p.(Pro828Leu)" "16"
"0000932657" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000932658" "00001847" "70" "4957" "0" "4957" "0" "c.4957G>A" "r.(?)" "p.(Gly1653Arg)" "35"
"0000932659" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000932660" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000932661" "00001847" "50" "455" "0" "455" "0" "c.455G>A" "r.(?)" "p.(Arg152Gln)" "5"
"0000932662" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000932663" "00001847" "90" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" "31"
"0000932664" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000932665" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000932666" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000932667" "00001847" "50" "587" "0" "587" "0" "c.587C>T" "r.(?)" "p.(Pro196Leu)" "6"
"0000932668" "00001847" "50" "3262" "0" "3262" "0" "c.3262C>T" "r.(?)" "p.(Pro1088Ser)" "22"
"0000932669" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000932670" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000932671" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.(Gly863Ala)" "17"
"0000932672" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000932673" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000932674" "00001847" "90" "6112" "0" "6112" "0" "c.6112C>T" "r.(?)" "p.(Arg2038Trp)" "44"
"0000932675" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000932676" "00001847" "50" "4685" "0" "4685" "0" "c.4685T>C" "r.(?)" "p.(Ile1562Thr)" "33"
"0000932677" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000932678" "00001847" "90" "1906" "0" "1906" "0" "c.1906C>T" "r.(?)" "p.(Gln636*)" "13"
"0000932679" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000932680" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000932681" "00001847" "90" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000932682" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000932683" "00001847" "90" "6088" "0" "6088" "0" "c.6088C>T" "r.(?)" "p.(Arg2030*)" "44"
"0000932684" "00001847" "70" "4926" "0" "4926" "0" "c.4926C>G" "r.(?)" "p.(Ser1642Arg)" "35"
"0000932685" "00001847" "90" "5044" "0" "5058" "0" "c.5044_5058del" "r.(?)" "p.(Val1682_Val1686del)" "36"
"0000932686" "00001847" "90" "6179" "0" "6179" "0" "c.6179T>G" "r.(?)" "p.(Leu2060Arg)" "45"
"0000932687" "00001847" "90" "6147" "2" "6147" "2" "c.6147+2T>A" "r.spl" "p.?" "44i"
"0000932688" "00001847" "90" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.spl" "p.[=,Met1733Glufs*78]" "36i"
"0000932689" "00001847" "90" "699" "0" "768" "341" "c.699_768+341del" "r.spl" "p.Gln234Phefs*5" "6_6i"
"0000932690" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000932691" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000932692" "00001847" "50" "5836" "-1" "5836" "-1" "c.5836-1G>C" "r.spl" "p.?" "41i"
"0000932693" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000932694" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000932695" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000932696" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000932697" "00001847" "90" "6179" "0" "6179" "0" "c.6179T>G" "r.(?)" "p.(Leu2060Arg)" "45"
"0000932698" "00001847" "90" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" "44"
"0000932699" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000932700" "00001847" "90" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.spl" "p.[=,Met1733Glufs*78]" "36i"
"0000932701" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000932702" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000932703" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000932704" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.(Gly863Ala)" "17"
"0000932705" "00001847" "90" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" "31"
"0000932706" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000932707" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.(Gly863Ala)" "17"
"0000932708" "00001847" "90" "3323" "0" "3323" "0" "c.3323G>A" "r.(?)" "p.(Arg1108His)" "22"
"0000932709" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000932710" "00001847" "90" "3323" "0" "3323" "0" "c.3323G>A" "r.(?)" "p.(Arg1108His)" "22"
"0000932711" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000932712" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000932713" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000932714" "00001847" "50" "3758" "0" "3758" "0" "c.3758C>T" "r.(?)" "p.(Thr1253Met)" "25"
"0000932715" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000932716" "00001847" "90" "1317" "0" "1317" "0" "c.1317G>A" "r.(?)" "p.(Trp439*)" "10"
"0000932717" "00001847" "90" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" "44"
"0000932718" "00001847" "90" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" "35"
"0000932719" "00001847" "90" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" "44"
"0000932720" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000932721" "00001847" "50" "2311" "0" "2311" "0" "c.2311A>T" "r.(?)" "p.(Thr771Ser)" "15"
"0000932722" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000932723" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.(Gly863Ala)" "17"
"0000932724" "00001847" "90" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" "31"
"0000932725" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000932726" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000932727" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.(Gly863Ala)" "17"
"0000932728" "00001847" "70" "5312" "3" "5312" "3" "c.5312+3A>T" "r.spl" "p.Asn1734Glyfs*14" "37i"
"0000932729" "00001847" "70" "1715" "0" "1715" "0" "c.1715G>A" "r.(?)" "p.(Arg572Gln)" "12"
"0000932730" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000932731" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.(Gly863Ala)" "17"
"0000932732" "00001847" "90" "5381" "0" "5381" "0" "c.5381C>A" "r.(?)" "p.(Ala1794Asp)" "38"
"0000932733" "00001847" "70" "5312" "3" "5312" "3" "c.5312+3A>T" "r.spl" "p.Asn1734Glyfs*14" "37i"
"0000932734" "00001847" "90" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" "44"
"0000932735" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000932736" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000932737" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000932738" "00001847" "70" "6416" "0" "6416" "0" "c.6416G>C" "r.(?)" "p.(Arg2139Pro)" "47"
"0000932739" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000932740" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.(Gly863Ala)" "17"
"0000932741" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000932742" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000932743" "00001847" "90" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" "30"
"0000932744" "00001847" "50" "4254" "-5" "4254" "-5" "c.4254-5T>A" "r.spl" "p.[(Ser1418_Pro1451delinsArg,Ser1418Argfs*13,Ser1418_Cys1488del)]" "28i"
"0000932745" "00001847" "50" "4254" "-5" "4254" "-5" "c.4254-5T>A" "r.spl" "p.[(Ser1418_Pro1451delinsArg,Ser1418Argfs*13,Ser1418_Cys1488del)]" "28i"
"0000932746" "00001847" "50" "4685" "0" "4685" "0" "c.4685T>C" "r.(?)" "p.(Ile1562Thr)" "33"
"0000932747" "00001847" "90" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" "31"
"0000932748" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" "23"
"0000932749" "00001847" "50" "676" "0" "676" "0" "c.676C>A" "r.(?)" "p.(Arg226Ser)" "6"
"0000932750" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000932751" "00001847" "50" "5329" "0" "5329" "0" "c.5329A>T" "r.(?)" "p.(Met1777Leu)" "38"
"0000932752" "00001847" "90" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973*)" "43"
"0000932753" "00001847" "90" "6445" "0" "6445" "0" "c.6445C>T" "r.(?)" "p.(Arg2149*)" "47"
"0000932754" "00001847" "90" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973*)" "43"
"0000932755" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000932756" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000932757" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000932758" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000932759" "00001847" "90" "5175" "0" "5175" "0" "c.5175dup" "r.(?)" "p.(Thr1726Aspfs*61)" "36"
"0000932760" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000932761" "00001847" "90" "3056" "0" "3056" "0" "c.3056C>T" "r.(?)" "p.(Thr1019Met)" "21"
"0000932762" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000932763" "00001847" "30" "769" "-784" "769" "-784" "c.769-784C>T" "r.spl" "p.[=,Leu257Aspfs*3]" "6i"
"0000932764" "00001847" "90" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" "35"
"0000932765" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000932766" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000932767" "00001847" "30" "769" "-784" "769" "-784" "c.769-784C>T" "r.spl" "p.[=,Leu257Aspfs*3]" "6i"
"0000932768" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000932769" "00001847" "50" "3758" "0" "3758" "0" "c.3758C>T" "r.(?)" "p.(Thr1253Met)" "25"
"0000932770" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000932771" "00001847" "30" "769" "-784" "769" "-784" "c.769-784C>T" "r.spl" "p.[=,Leu257Aspfs*3]" "6i"
"0000932772" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000932773" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000932774" "00001847" "30" "769" "-784" "769" "-784" "c.769-784C>T" "r.spl" "p.[=,Leu257Aspfs*3]" "6i"
"0000932775" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000932776" "00001847" "30" "769" "-784" "769" "-784" "c.769-784C>T" "r.spl" "p.[=,Leu257Aspfs*3]" "6i"
"0000932777" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000932778" "00001847" "70" "769" "-784" "769" "-784" "c.769-784C>T" "r.spl" "p.[=,Leu257Aspfs*3]" "6i"
"0000932779" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000932780" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000932781" "00001847" "30" "769" "-784" "769" "-784" "c.769-784C>T" "r.spl" "p.[=,Leu257Aspfs*3]" "6i"
"0000932782" "00001847" "50" "452" "0" "452" "0" "c.452T>C" "r.(?)" "p.(Ile151Thr)" "5"
"0000932783" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000932784" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000932785" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000932786" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000932787" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.[=,Glu1863Leufs*33]" "40i"
"0000932788" "00001847" "90" "6088" "0" "6088" "0" "c.6088C>T" "r.(?)" "p.(Arg2030*)" "44"
"0000932789" "00001847" "70" "1356" "0" "1356" "15" "c.1356_1356+15del" "r.spl" "p.?" "10"
"0000932790" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000932791" "00001847" "70" "5380" "0" "5380" "0" "c.5380G>C" "r.(?)" "p.(Ala1794Pro)" "38"
"0000932792" "00001847" "70" "5380" "0" "5380" "0" "c.5380G>C" "r.(?)" "p.(Ala1794Pro)" "38"
"0000932793" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000932794" "00001847" "90" "3874" "0" "3874" "0" "c.3874C>T" "r.(?)" "p.(Gln1292*)" "27"
"0000932795" "00001847" "50" "1928" "0" "1928" "0" "c.1928T>G" "r.(?)" "p.(Val643Gly)" "13"
"0000932796" "00001847" "90" "6088" "0" "6088" "0" "c.6088C>T" "r.(?)" "p.(Arg2030*)" "44"
"0000932797" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000932798" "00001847" "70" "2802" "0" "2804" "0" "c.2802_2804del" "r.(?)" "p.(Val935del)" "19"
"0000932799" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000932800" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000932801" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000932802" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000932803" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000932804" "00001847" "30" "769" "-784" "769" "-784" "c.769-784C>T" "r.spl" "p.[=,Leu257Aspfs*3]" "6i"
"0000932805" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000932806" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000932807" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000932808" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.(Gly863Ala)" "17"
"0000932809" "00001847" "90" "2802" "0" "2804" "0" "c.2802_2804del" "r.(?)" "p.(Val935del)" "19"
"0000932810" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000932811" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.(Gly863Ala)" "17"
"0000932812" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000932813" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000932814" "00001847" "90" "4539" "1" "4539" "1" "c.4539+1G>T" "r.spl" "p.?" "30i"
"0000932815" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000932816" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000932817" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.(Gly863Ala)" "17"
"0000932818" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000932819" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.(Gly863Ala)" "17"
"0000932820" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000932821" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000932822" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000932823" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.(Gly863Ala)" "17"
"0000932824" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000932825" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.(Gly863Ala)" "17"
"0000932826" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000932827" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000932828" "00001847" "50" "1345" "0" "1345" "0" "c.1345A>T" "r.(?)" "p.(Asn449Tyr)" "10"
"0000932829" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000932830" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000932831" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000932832" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000932833" "00001847" "70" "5512" "0" "5512" "0" "c.5512C>G" "r.(?)" "p.(His1838Asp)" "39"
"0000932834" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000932835" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000932836" "00001847" "90" "1822" "0" "1822" "0" "c.1822T>A" "r.(?)" "p.(Phe608Ile)" "13"
"0000932837" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000932838" "00001847" "90" "2409" "0" "2410" "0" "c.2409_2410del" "r.(?)" "p.(Phe804Trpfs*3)" "16"
"0000932839" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000932840" "00001847" "50" "6817" "-713" "6817" "-713" "c.6817-713A>G" "r.spl" "p.[(=,Gln2272_Asp2273ins*11)]" "49i"
"0000933396" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.(Gly863Ala)" ""
"0000933416" "00001847" "90" "5318" "0" "5318" "0" "c.5318C>T" "r.(?)" "p.(Ala1773Val)" ""
"0000933417" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" ""
"0000933418" "00001847" "90" "4926" "0" "4926" "0" "c.4926C>G" "r.(?)" "p.(Ser1642Arg)" ""
"0000933419" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" ""
"0000933420" "00001847" "90" "4926" "0" "4926" "0" "c.4926C>G" "r.(?)" "p.(Ser1642Arg)" ""
"0000933421" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" ""
"0000933423" "00001847" "90" "2908" "0" "2908" "0" "c.2908del" "r.(?)" "p.(Thr970Profs*7)" ""
"0000933424" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000933425" "00001847" "90" "4926" "0" "4926" "0" "c.4926C>G" "r.(?)" "p.(Ser1642Arg)" ""
"0000933426" "00001847" "90" "5044" "0" "5058" "0" "c.5044_5058del" "r.(?)" "p.(Val1682_Val1686del)" ""
"0000933427" "00001847" "90" "5318" "0" "5318" "0" "c.5318C>T" "r.(?)" "p.(Ala1773Val)" ""
"0000933428" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" ""
"0000933429" "00001847" "90" "4457" "0" "4457" "0" "c.4457C>T" "r.(?)" "p.(Pro1486Leu)" ""
"0000933430" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" ""
"0000933431" "00001847" "90" "6718" "0" "6718" "0" "c.6718A>G" "r.(?)" "p.(Thr2240Ala)" ""
"0000933432" "00001847" "90" "4352" "61" "4352" "61" "c.4352+61G>A" "r.(=)" "p.(=)" ""
"0000933435" "00001847" "90" "4537" "0" "4537" "0" "c.4537dup" "r.(?)" "p.(Gln1513Profs*42)" ""
"0000933436" "00001847" "90" "5461" "-1" "5461" "-1" "c.5461-1G>T" "r.spl" "p.?" ""
"0000933438" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" ""
"0000933439" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" ""
"0000933440" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" ""
"0000933441" "00001847" "90" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.(=)" "p.(=)" ""
"0000933442" "00001847" "90" "5318" "0" "5318" "0" "c.5318C>T" "r.(?)" "p.(Ala1773Val)" ""
"0000933443" "00001847" "90" "6221" "0" "6221" "0" "c.6221G>T" "r.(?)" "p.(Gly2074Val)" ""
"0000933444" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" ""
"0000933445" "00001847" "90" "4253" "4" "4253" "4" "c.4253+4C>T" "r.spl?" "p.?" ""
"0000933446" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000933447" "00001847" "90" "6221" "0" "6221" "0" "c.6221G>T" "r.(?)" "p.(Gly2074Val)" ""
"0000933461" "00001847" "90" "5044" "0" "5058" "0" "c.5044_5058del" "r.(?)" "p.(Val1682_Val1686del)" ""
"0000933462" "00001847" "90" "5044" "0" "5058" "0" "c.5044_5058del" "r.(?)" "p.(Val1682_Val1686del)" ""
"0000933622" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" ""
"0000933623" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" ""
"0000933624" "00001847" "90" "4926" "0" "4926" "0" "c.4926C>G" "r.(?)" "p.(Ser1642Arg)" ""
"0000933625" "00001847" "90" "5044" "0" "5058" "0" "c.5044_5058del" "r.(?)" "p.(Val1682_Val1686del)" ""
"0000933626" "00001847" "90" "6581" "0" "6581" "0" "c.6581del" "r.(?)" "p.(Pro2194Glnfs*53)" ""
"0000933711" "00001847" "70" "161" "-395" "161" "-395" "c.161-395G>A" "r.[161_302del,=,160_161ins161-484_161–394]" "p.[Cys54Serfs*14,=,Cys54Cysfs*75]" "2i"
"0000933712" "00001847" "10" "859" "-556" "859" "-556" "c.859-556A>G" "r.=" "p.=" "7i"
"0000933713" "00001847" "90" "859" "-25" "859" "-25" "c.859-25A>G" "r.[859_1099del,858_859ins[859-685_859-26;g;859-24_859-1],858_859ins[859-138 _859-26;g;859-24_859-1]]" "p.[Phe287Hisfs*7,Phe287Tyrfs*33,Phe287Leufs*3]" "7i"
"0000933714" "00001847" "90" "2654" "-23" "2654" "-23" "c.2654-23A>C" "r.2653_2654ins2654-40_2654-1" "p.Gly885Alafs*48" "17i"
"0000933716" "00001847" "90" "2743" "0" "2743" "0" "c.2743G>A" "r.[2654_ 2743del,2743_2744ins2743+1_ 2743+152]" "p.[Gly885_His914,Asp915Glyfs*35]" "18"
"0000933717" "00001847" "70" "2919" "-774" "2919" "-774" "c.2919-774A>G" "r.[2918_2919ins2919-957_2919–779,=]" "p.[Leu973Phefs*3,=]" ""
"0000933718" "00001847" "10" "2919" "-177" "2919" "-177" "c.2919-177G>T" "r.=" "p.=" ""
"0000933719" "00001847" "30" "3522" "524" "3522" "524" "c.3522+524A>G" "r.[=,3522_3523ins3522+369_3522+519]" "p.[=,Glu1174Ter]" ""
"0000933720" "00001847" "90" "4254" "-5" "4254" "-5" "c.4254-5T>A" "r.[4254_4352del,4254_4539del,4254_4466del]" "p.[Ser1418_Pro1451delinsArg,Ser1418Argfs*13,Ser1418_Cys1488del]" "28i"
"0000933721" "00001847" "70" "4539" "1964" "4539" "1964" "c.4539+1964G>T" "r.[4539_4540ins4539+1891_4539+1962,=]" "p.[Gln1513_Arg 1514insX[24],=]" "30i"
"0000933722" "00001847" "70" "4667" "5" "4667" "5" "c.4667+5G>T" "r.[4635_4667del,=]" "p.[Ser1545_Gln1555del,=]" "32i"
"0000933723" "00001847" "50" "4773" "0" "4773" "0" "c.4773G>T" "r.[=,4668_ 4773del]" "p.[=,Tyr1557Alafs*18]" "33"
"0000933724" "00001847" "10" "6005" "717" "6005" "717" "c.6005+717G>T" "r.=" "p.=" ""
"0000933725" "00001847" "30" "6283" "-321" "6283" "-321" "c.6283-321C>G" "r.[=,6282_6283ins6382+173_6283–322,6282_6283ins6382+1_6283–322]" "p.[=,Leu2094_Asp2095ins*58,Leu2094_Asp2095ins*117]" "45i"
"0000933726" "00001847" "10" "6283" "-93" "6283" "-93" "c.6283-93C>G" "r.=" "p.=" ""
"0000933727" "00001847" "70" "6387" "-15" "6387" "-12" "c.6387-15_6387-12del" "r.[6386_6387ins 6386+1_6387–1,=]" "p.[Ser2129Argfs*30,=]" "46i"
"0000933728" "00001847" "30" "6816" "0" "6816" "0" "c.6816G>A" "r.[=,6730_ 6816del]" "p.[=,Val2244_Gln2272del]" "49"
"0000933729" "00001847" "30" "6817" "-713" "6817" "-713" "c.6817-713A>G" "r.[=,6730_6816ins6817-835_6817–714]" "p.[=,Gln2272_Asp2273ins*11]" "49i"
"0000933730" "00001847" "90" "859" "-25" "859" "-25" "c.859-25A>G" "r.spl" "p.[(Phe287Hisfs*7,Phe287Tyrfs*33,Phe287Leufs*3)]" "7i"
"0000933731" "00001847" "90" "859" "-25" "859" "-25" "c.859-25A>G" "r.spl" "p.[(Phe287Hisfs*7,Phe287Tyrfs*33,Phe287Leufs*3)]" "7i"
"0000933732" "00001847" "90" "859" "-25" "859" "-25" "c.859-25A>G" "r.spl" "p.[(Phe287Hisfs*7,Phe287Tyrfs*33,Phe287Leufs*3)]" "7i"
"0000933733" "00001847" "90" "859" "-25" "859" "-25" "c.859-25A>G" "r.spl" "p.[(Phe287Hisfs*7,Phe287Tyrfs*33,Phe287Leufs*3)]" "7i"
"0000933734" "00001847" "90" "859" "-25" "859" "-25" "c.859-25A>G" "r.spl" "p.[(Phe287Hisfs*7,Phe287Tyrfs*33,Phe287Leufs*3)]" "7i"
"0000933735" "00001847" "90" "859" "-25" "859" "-25" "c.859-25A>G" "r.spl" "p.[(Phe287Hisfs*7,Phe287Tyrfs*33,Phe287Leufs*3)]" "7i"
"0000933736" "00001847" "90" "859" "-25" "859" "-25" "c.859-25A>G" "r.spl" "p.[(Phe287Hisfs*7,Phe287Tyrfs*33,Phe287Leufs*3)]" "7i"
"0000933737" "00001847" "90" "859" "-25" "859" "-25" "c.859-25A>G" "r.spl" "p.[(Phe287Hisfs*7,Phe287Tyrfs*33,Phe287Leufs*3)]" "7i"
"0000933738" "00001847" "90" "859" "-25" "859" "-25" "c.859-25A>G" "r.spl" "p.[(Phe287Hisfs*7,Phe287Tyrfs*33,Phe287Leufs*3)]" "7i"
"0000933739" "00001847" "90" "859" "-25" "859" "-25" "c.859-25A>G" "r.spl" "p.[(Phe287Hisfs*7,Phe287Tyrfs*33,Phe287Leufs*3)]" "7i"
"0000933740" "00001847" "90" "859" "-25" "859" "-25" "c.859-25A>G" "r.spl" "p.[(Phe287Hisfs*7,Phe287Tyrfs*33,Phe287Leufs*3)]" "7i"
"0000933741" "00001847" "90" "859" "-25" "859" "-25" "c.859-25A>G" "r.spl" "p.[(Phe287Hisfs*7,Phe287Tyrfs*33,Phe287Leufs*3)]" "7i"
"0000933742" "00001847" "90" "859" "-25" "859" "-25" "c.859-25A>G" "r.spl" "p.[(Phe287Hisfs*7,Phe287Tyrfs*33,Phe287Leufs*3)]" "7i"
"0000933743" "00001847" "90" "859" "-25" "859" "-25" "c.859-25A>G" "r.spl" "p.[(Phe287Hisfs*7,Phe287Tyrfs*33,Phe287Leufs*3)]" "7i"
"0000933744" "00001847" "90" "859" "-25" "859" "-25" "c.859-25A>G" "r.spl" "p.[(Phe287Hisfs*7,Phe287Tyrfs*33,Phe287Leufs*3)]" "7i"
"0000933745" "00001847" "90" "859" "-25" "859" "-25" "c.859-25A>G" "r.spl" "p.[(Phe287Hisfs*7,Phe287Tyrfs*33,Phe287Leufs*3)]" "7i"
"0000933746" "00001847" "90" "859" "-25" "859" "-25" "c.859-25A>G" "r.spl" "p.[(Phe287Hisfs*7,Phe287Tyrfs*33,Phe287Leufs*3)]" "7i"
"0000933747" "00001847" "90" "859" "-25" "859" "-25" "c.859-25A>G" "r.spl" "p.[(Phe287Hisfs*7,Phe287Tyrfs*33,Phe287Leufs*3)]" "7i"
"0000933748" "00001847" "90" "859" "-25" "859" "-25" "c.859-25A>G" "r.spl" "p.[(Phe287Hisfs*7,Phe287Tyrfs*33,Phe287Leufs*3)]" "7i"
"0000933749" "00001847" "90" "859" "-25" "859" "-25" "c.859-25A>G" "r.spl" "p.[(Phe287Hisfs*7,Phe287Tyrfs*33,Phe287Leufs*3)]" "7i"
"0000933750" "00001847" "90" "859" "-25" "859" "-25" "c.859-25A>G" "r.spl" "p.[(Phe287Hisfs*7,Phe287Tyrfs*33,Phe287Leufs*3)]" "7i"
"0000933751" "00001847" "90" "859" "-25" "859" "-25" "c.859-25A>G" "r.spl" "p.[(Phe287Hisfs*7,Phe287Tyrfs*33,Phe287Leufs*3)]" "7i"
"0000933752" "00001847" "90" "859" "-25" "859" "-25" "c.859-25A>G" "r.spl" "p.[(Phe287Hisfs*7,Phe287Tyrfs*33,Phe287Leufs*3)]" "7i"
"0000933753" "00001847" "90" "859" "-25" "859" "-25" "c.859-25A>G" "r.spl" "p.[(Phe287Hisfs*7,Phe287Tyrfs*33,Phe287Leufs*3)]" "7i"
"0000933754" "00001847" "90" "859" "-25" "859" "-25" "c.859-25A>G" "r.spl" "p.[(Phe287Hisfs*7,Phe287Tyrfs*33,Phe287Leufs*3)]" "7i"
"0000933755" "00001847" "90" "859" "-25" "859" "-25" "c.859-25A>G" "r.spl" "p.[(Phe287Hisfs*7,Phe287Tyrfs*33,Phe287Leufs*3)]" "7i"
"0000933756" "00001847" "90" "859" "-25" "859" "-25" "c.859-25A>G" "r.spl" "p.[(Phe287Hisfs*7,Phe287Tyrfs*33,Phe287Leufs*3)]" "7i"
"0000933757" "00001847" "90" "859" "-25" "859" "-25" "c.859-25A>G" "r.spl" "p.[(Phe287Hisfs*7,Phe287Tyrfs*33,Phe287Leufs*3)]" "7i"
"0000933758" "00001847" "90" "859" "-25" "859" "-25" "c.859-25A>G" "r.spl" "p.[(Phe287Hisfs*7,Phe287Tyrfs*33,Phe287Leufs*3)]" "7i"
"0000933759" "00001847" "90" "859" "-25" "859" "-25" "c.859-25A>G" "r.spl" "p.[(Phe287Hisfs*7,Phe287Tyrfs*33,Phe287Leufs*3)]" "7i"
"0000933760" "00001847" "90" "859" "-25" "859" "-25" "c.859-25A>G" "r.spl" "p.[(Phe287Hisfs*7,Phe287Tyrfs*33,Phe287Leufs*3)]" "7i"
"0000933761" "00001847" "90" "859" "-25" "859" "-25" "c.859-25A>G" "r.spl" "p.[(Phe287Hisfs*7,Phe287Tyrfs*33,Phe287Leufs*3)]" "7i"
"0000933762" "00001847" "90" "859" "-25" "859" "-25" "c.859-25A>G" "r.spl" "p.[(Phe287Hisfs*7,Phe287Tyrfs*33,Phe287Leufs*3)]" "7i"
"0000933763" "00001847" "90" "859" "-25" "859" "-25" "c.859-25A>G" "r.spl" "p.[(Phe287Hisfs*7,Phe287Tyrfs*33,Phe287Leufs*3)]" "7i"
"0000933764" "00001847" "90" "859" "-25" "859" "-25" "c.859-25A>G" "r.spl" "p.[(Phe287Hisfs*7,Phe287Tyrfs*33,Phe287Leufs*3)]" "7i"
"0000933765" "00001847" "90" "859" "-25" "859" "-25" "c.859-25A>G" "r.spl" "p.[(Phe287Hisfs*7,Phe287Tyrfs*33,Phe287Leufs*3)]" "7i"
"0000933766" "00001847" "90" "859" "-25" "859" "-25" "c.859-25A>G" "r.spl" "p.[(Phe287Hisfs*7,Phe287Tyrfs*33,Phe287Leufs*3)]" "7i"
"0000933767" "00001847" "90" "859" "-25" "859" "-25" "c.859-25A>G" "r.spl" "p.[(Phe287Hisfs*7,Phe287Tyrfs*33,Phe287Leufs*3)]" "7i"
"0000933768" "00001847" "90" "859" "-25" "859" "-25" "c.859-25A>G" "r.spl" "p.[(Phe287Hisfs*7,Phe287Tyrfs*33,Phe287Leufs*3)]" "7i"
"0000933769" "00001847" "90" "859" "-25" "859" "-25" "c.859-25A>G" "r.spl" "p.[(Phe287Hisfs*7,Phe287Tyrfs*33,Phe287Leufs*3)]" "7i"
"0000933770" "00001847" "90" "859" "-25" "859" "-25" "c.859-25A>G" "r.spl" "p.[(Phe287Hisfs*7,Phe287Tyrfs*33,Phe287Leufs*3)]" "7i"
"0000933771" "00001847" "90" "859" "-25" "859" "-25" "c.859-25A>G" "r.spl" "p.[(Phe287Hisfs*7,Phe287Tyrfs*33,Phe287Leufs*3)]" "7i"
"0000933772" "00001847" "90" "859" "-25" "859" "-25" "c.859-25A>G" "r.spl" "p.[(Phe287Hisfs*7,Phe287Tyrfs*33,Phe287Leufs*3)]" "7i"
"0000933773" "00001847" "90" "859" "-25" "859" "-25" "c.859-25A>G" "r.spl" "p.[(Phe287Hisfs*7,Phe287Tyrfs*33,Phe287Leufs*3)]" "7i"
"0000933774" "00001847" "90" "859" "-25" "859" "-25" "c.859-25A>G" "r.spl" "p.[(Phe287Hisfs*7,Phe287Tyrfs*33,Phe287Leufs*3)]" "7i"
"0000933775" "00001847" "90" "859" "-25" "859" "-25" "c.859-25A>G" "r.spl" "p.[(Phe287Hisfs*7,Phe287Tyrfs*33,Phe287Leufs*3)]" "7i"
"0000933776" "00001847" "90" "859" "-25" "859" "-25" "c.859-25A>G" "r.spl" "p.[(Phe287Hisfs*7,Phe287Tyrfs*33,Phe287Leufs*3)]" "7i"
"0000933777" "00001847" "90" "859" "-25" "859" "-25" "c.859-25A>G" "r.spl" "p.[(Phe287Hisfs*7,Phe287Tyrfs*33,Phe287Leufs*3)]" "7i"
"0000933778" "00001847" "90" "859" "-25" "859" "-25" "c.859-25A>G" "r.spl" "p.[(Phe287Hisfs*7,Phe287Tyrfs*33,Phe287Leufs*3)]" "7i"
"0000933779" "00001847" "90" "859" "-25" "859" "-25" "c.859-25A>G" "r.spl" "p.[(Phe287Hisfs*7,Phe287Tyrfs*33,Phe287Leufs*3)]" "7i"
"0000933780" "00001847" "90" "859" "-25" "859" "-25" "c.859-25A>G" "r.spl" "p.[(Phe287Hisfs*7,Phe287Tyrfs*33,Phe287Leufs*3)]" "7i"
"0000933781" "00001847" "90" "859" "-25" "859" "-25" "c.859-25A>G" "r.spl" "p.[(Phe287Hisfs*7,Phe287Tyrfs*33,Phe287Leufs*3)]" "7i"
"0000933782" "00001847" "90" "859" "-25" "859" "-25" "c.859-25A>G" "r.spl" "p.[(Phe287Hisfs*7,Phe287Tyrfs*33,Phe287Leufs*3)]" "7i"
"0000933783" "00001847" "90" "859" "-25" "859" "-25" "c.859-25A>G" "r.spl" "p.[(Phe287Hisfs*7,Phe287Tyrfs*33,Phe287Leufs*3)]" "7i"
"0000933784" "00001847" "90" "859" "-25" "859" "-25" "c.859-25A>G" "r.spl" "p.[(Phe287Hisfs*7,Phe287Tyrfs*33,Phe287Leufs*3)]" "7i"
"0000933785" "00001847" "90" "859" "-25" "859" "-25" "c.859-25A>G" "r.spl" "p.[(Phe287Hisfs*7,Phe287Tyrfs*33,Phe287Leufs*3)]" "7i"
"0000933786" "00001847" "90" "6816" "2" "6816" "2" "c.6816+2T>A" "r.spl" "p.?" ""
"0000933787" "00001847" "90" "4979" "0" "4979" "0" "c.4979C>T" "r.(?)" "p.(Pro1660Leu)" ""
"0000933788" "00001847" "90" "4979" "0" "4979" "0" "c.4979C>T" "r.(?)" "p.(Pro1660Leu)" ""
"0000933789" "00001847" "90" "4979" "0" "4979" "0" "c.4979C>T" "r.(?)" "p.(Pro1660Leu)" ""
"0000933790" "00001847" "90" "4979" "0" "4979" "0" "c.4979C>T" "r.(?)" "p.(Pro1660Leu)" ""
"0000933791" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>C" "r.(?)" "p.(Gly1961Ala)" ""
"0000933792" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>C" "r.(?)" "p.(Gly1961Ala)" ""
"0000933793" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>C" "r.(?)" "p.(Gly1961Ala)" ""
"0000933794" "00001847" "90" "4979" "0" "4979" "0" "c.4979C>T" "r.(?)" "p.(Pro1660Leu)" ""
"0000933795" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.spl" "p.(Gly1961Glu)" ""
"0000933796" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000933797" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000933798" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000933799" "00001847" "90" "4979" "0" "4979" "0" "c.4979C>T" "r.(?)" "p.(Pro1660Leu)" ""
"0000933800" "00001847" "90" "3262" "0" "3262" "0" "c.3262C>T" "r.(?)" "p.(Pro1088Ser)" ""
"0000933821" "00001847" "90" "6480" "-35" "6480" "-35" "c.6480-35A>G" "r.[6479_6480ins[6480-47_6480-36;g;6480-34_6480-1]|0.67,=|0.3,6387_6479del]" "p.[Phe2161Profs*4,=,Ser2129_Lys2160delinsArg]" "47i"
"0000934307" "00001847" "90" "1022" "0" "1022" "0" "c.1022A>T" "r.1017_1099del" "p.Tyr339Cysfs*37" ""
"0000934308" "00001847" "90" "1977" "0" "1977" "0" "c.1977G>A" "r.[1938_1978del,2161_2382del]" "p.[Phe647Alafs*73,Phe647Alafs*105]" ""
"0000934309" "00001847" "90" "2128" "0" "2128" "0" "c.2128A>G" "r.[2128_2160del,2128_2382del]" "p.[Met710_Met720del,Met710_Val794del]" ""
"0000934310" "00001847" "90" "2273" "0" "2273" "0" "c.2273C>T" "r.[2128_2382del,2272_2382del]" "p.[Ala758_Val794del,His721_Val794del]" ""
"0000934311" "00001847" "90" "3096" "0" "3096" "0" "c.3096A>T" "r.[3096a>u,3051_3190del,3095_3190del]" "p.[Gly1032=,His1017Glnfs*111,Gly1032_Ser1063del]" ""
"0000934312" "00001847" "90" "3407" "0" "3407" "0" "c.3407G>T" "r.3406_3522del" "p.Gly1136_Glu1174del" ""
"0000934313" "00001847" "90" "3462" "0" "3462" "0" "c.3462C>T" "r.3461_3522del" "p.Leu1155Aspfs*19" ""
"0000934314" "00001847" "90" "3703" "0" "3703" "0" "c.3703A>G" "r.3608_3703del" "p.Gly1203_Asn1235delinsAsp" ""
"0000934315" "00001847" "30" "4203" "0" "4203" "0" "c.4203C>A" "r.4203c>a" "p.Pro1401=" ""
"0000934316" "00001847" "90" "4446" "0" "4446" "0" "c.4446C>A" "r.4444_4539del" "p.Val1482_Gln1513del" ""
"0000934317" "00001847" "90" "4454" "0" "4454" "0" "c.4454C>T" "r.[4454c>u,4254_4466del]" "p.[Ser1485Leu,Ser1418_Cys1488delinsArg]" ""
"0000934318" "00001847" "70" "4457" "0" "4457" "0" "c.4457C>T" "r.4457c>u" "p.Pro1486Leu" ""
"0000934319" "00001847" "90" "4469" "0" "4469" "0" "c.4469G>A" "r.[4254_4352delinsag,4467_4539del]" "p.[Ser1418Argfs*80,Cys1490Glufs*12]" ""
"0000934320" "00001847" "90" "5088" "0" "5088" "0" "c.5088C>G" "r.[5088c>g,5019_5087del]" "p.[Ser1696Arg,Leu1674_Ser1696del]" ""
"0000934321" "00001847" "70" "5367" "0" "5367" "0" "c.5367C>G" "r.5367c>g" "p.Ser1789Arg" ""
"0000934322" "00001847" "90" "6207" "0" "6207" "0" "c.6207C>T" "r.6206_6282del" "p.Thr2070*" ""
"0000934323" "00001847" "90" "6272" "0" "6272" "0" "c.6272T>A" "r.6274_6282del" "p.Val2092_Leu2094del" ""
"0000934324" "00001847" "90" "6339" "0" "6339" "0" "c.6339C>G" "r.6340_6386del" "p.Val2114Hisfs*5" ""
"0000936739" "00001847" "90" "4635" "-27" "4635" "-27" "c.4635-27A>G" "r.spl" "p.[(Ser1545_Arg1556del,=)]" ""
"0000936740" "00001847" "70" "5836" "-2" "5836" "-2" "c.5836-2A>G" "r.spl" "p.?" ""
"0000936742" "00001847" "90" "6479" "655" "6479" "658" "c.[6479+655_6479+658del;6479+659_6822+1720inv]" "r.spl" "p.(Phe2161IlefsTer17)" ""
"0000936743" "00001847" "90" "101" "0" "106" "0" "c.101_106del" "r.(?)" "p.(Ser34_Leu35del)" ""
"0000936744" "00001847" "90" "5196" "2" "5196" "2" "c.5196+2dup" "r.spl" "p.(Leu1674Ter)" ""
"0000936745" "00001847" "90" "6387" "-23" "6387" "-23" "c.6387-23A>G" "r.spl" "p.[(Ser2129ArgfsTer115,=)]" ""
"0000936949" "00001847" "90" "1015" "0" "1015" "0" "c.1015T>G" "r.(?)" "p.(Trp339Gly)" ""
"0000936950" "00001847" "90" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973Ter)" ""
"0000936951" "00001847" "50" "5692" "0" "5692" "0" "c.5692C>T" "r.(?)" "p.(Arg1898Cys)" ""
"0000936952" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(5461_5714del,5461_5584del)" "p.(Thr1821Aspfs*6,Thr1821Valfs*13)" ""
"0000936953" "00001847" "90" "3966" "0" "3966" "0" "c.3966del" "r.(?)" "p.(Ala1324ArgfsTer65)" ""
"0000936954" "00001847" "50" "86" "0" "86" "0" "c.86T>G" "r.(?)" "p.(Leu29Arg)" ""
"0000936955" "00001847" "70" "1844" "0" "1844" "0" "c.1844T>C" "r.(?)" "p.(Val615Ala)" ""
"0000936956" "00001847" "90" "1648" "0" "1648" "0" "c.1648G>A" "r.(?)" "p.(Gly550Arg)" ""
"0000936957" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000936958" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" ""
"0000936959" "00001847" "90" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071CysfsTer14)" ""
"0000936960" "00001847" "70" "4926" "0" "4926" "0" "c.4926C>G" "r.(?)" "p.(Ser1642Arg)" ""
"0000936961" "00001847" "70" "3814" "-2" "3814" "-2" "c.3814-2A>G" "r.spl" "p.?" ""
"0000936962" "00001847" "90" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" ""
"0000936963" "00001847" "90" "194" "0" "194" "0" "c.194G>A" "r.(?)" "p.(Gly65Glu)" ""
"0000936964" "00001847" "90" "5313" "-2" "5313" "-2" "c.5313-2del" "r.spl" "p.?" ""
"0000936965" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.(=,5585_5714del)" "p.(Glu1863Leufs*33,=)" ""
"0000936966" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.(2588g>c,2588_2590del)" "p.(Gly863Ala,Gly863del)" ""
"0000936967" "00001847" "90" "203" "0" "203" "0" "c.203C>G" "r.(?)" "p.(Pro68Arg)" ""
"0000936968" "00001847" "70" "688" "0" "688" "0" "c.688T>G" "r.(?)" "p.(Cys230Gly)" ""
"0000936969" "00001847" "90" "3259" "0" "3259" "0" "c.3259G>A" "r.(?)" "p.(Glu1087Lys)" ""
"0000936970" "00001847" "90" "655" "0" "655" "0" "c.655A>T" "r.(?)" "p.(Arg219Ter)" ""
"0000936971" "00001847" "90" "2971" "0" "2971" "0" "c.2971G>C" "r.(?)" "p.(Gly991Arg)" ""
"0000936972" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" ""
"0000936973" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.768_769ins769+1_769+30" "p.(Leu257Valfs*17)" ""
"0000936974" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(5461_5714del,5461_5584del)" "p.(Thr1821Aspfs*6,Thr1821Valfs*13)" ""
"0000936975" "00001847" "70" "4926" "0" "4926" "0" "c.4926C>G" "r.(?)" "p.(Ser1642Arg)" ""
"0000936976" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(5461_5714del,5461_5584del)" "p.(Thr1821Aspfs*6,Thr1821Valfs*13)" ""
"0000936977" "00001847" "70" "4926" "0" "4926" "0" "c.4926C>G" "r.(?)" "p.(Ser1642Arg)" ""
"0000936978" "00001847" "90" "203" "0" "203" "0" "c.203C>T" "r.(?)" "p.(Pro68Leu)" ""
"0000936979" "00001847" "90" "4919" "0" "4919" "0" "c.4919G>A" "r.(?)" "p.(Arg1640Gln)" ""
"0000936980" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" ""
"0000936981" "00001847" "90" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071CysfsTer14)" ""
"0000936982" "00001847" "90" "2041" "0" "2041" "0" "c.2041C>T" "r.(?)" "p.(Arg681Ter)" ""
"0000936983" "00001847" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Ter)" ""
"0000936984" "00001847" "30" "3602" "0" "3602" "0" "c.3602T>G" "r.(?)" "p.(Leu1201Arg)" ""
"0000936985" "00001847" "90" "1609" "0" "1609" "0" "c.1609C>T" "r.(?)" "p.(Arg537Cys)" ""
"0000936986" "00001847" "50" "614" "0" "614" "0" "c.614G>A" "r.(?)" "p.(Cys205Tyr)" ""
"0000936987" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" ""
"0000936988" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" ""
"0000936989" "00001847" "90" "2971" "0" "2971" "0" "c.2971G>C" "r.(?)" "p.(Gly991Arg)" ""
"0000936990" "00001847" "70" "2743" "0" "2743" "0" "c.2743G>A" "r.spl?" "p.(Asp915Asn,?)" ""
"0000936991" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000936992" "00001847" "90" "1015" "0" "1015" "0" "c.1015T>G" "r.(?)" "p.(Trp339Gly)" ""
"0000936993" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" ""
"0000936994" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" ""
"0000936995" "00001847" "90" "5018" "2" "5018" "2" "c.5018+2T>C" "r.spl" "p.?" ""
"0000936996" "00001847" "50" "3749" "0" "3749" "0" "c.3749T>C" "r.(?)" "p.(Leu1250Pro)" ""
"0000936997" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" ""
"0000936998" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" ""
"0000936999" "00001847" "50" "1320" "0" "1320" "0" "c.1320C>A" "r.(?)" "p.(Tyr440Ter)" ""
"0000937000" "00001847" "50" "4771" "0" "4771" "0" "c.4771G>A" "r.spl?" "p.(Gly1591Arg,?)" ""
"0000937001" "00001847" "50" "4582" "0" "4582" "0" "c.4582del" "r.(?)" "p.(Arg1528GlyfsTer8)" ""
"0000937002" "00001847" "70" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" ""
"0000937003" "00001847" "50" "4685" "0" "4685" "0" "c.4685T>C" "r.(?)" "p.(Ile1562Thr)" ""
"0000937004" "00001847" "50" "1054" "0" "1054" "0" "c.1054G>A" "r.(?)" "p.(Asp352Asn)" ""
"0000937005" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" ""
"0000937006" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000937007" "00001847" "50" "1671" "0" "1671" "0" "c.1671T>A" "r.(?)" "p.(Tyr557Ter)" ""
"0000937008" "00001847" "90" "1648" "0" "1648" "0" "c.1648G>A" "r.(?)" "p.(Gly550Arg)" ""
"0000937009" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000937010" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.(2588g>c,2588_2590del)" "p.(Gly863Ala,Gly863del)" ""
"0000937011" "00001847" "90" "286" "0" "286" "0" "c.286A>G" "r.(?)" "p.(Asn96Asp)" ""
"0000937012" "00001847" "90" "286" "0" "286" "0" "c.286A>G" "r.(?)" "p.(Asn96Asp)" ""
"0000937013" "00001847" "50" "4685" "0" "4685" "0" "c.4685T>C" "r.(?)" "p.(Ile1562Thr)" ""
"0000937014" "00001847" "90" "5318" "0" "5318" "0" "c.5318C>T" "r.(?)" "p.(Ala1773Val)" ""
"0000937015" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000937016" "00001847" "50" "1522" "0" "1522" "0" "c.1522C>T" "r.(?)" "p.(Arg508Cys)" ""
"0000937017" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.(2588g>c,2588_2590del)" "p.(Gly863Ala,Gly863del)" ""
"0000937018" "00001847" "50" "3259" "0" "3259" "0" "c.3259G>A" "r.(?)" "p.(Glu1087Lys)" ""
"0000937019" "00001847" "90" "4457" "0" "4457" "0" "c.4457C>T" "r.(?)" "p.(Pro1486Leu)" ""
"0000937020" "00001847" "50" "88" "0" "88" "0" "c.88G>A" "r.(?)" "p.(Val30Met)" ""
"0000937021" "00001847" "70" "1853" "0" "1853" "0" "c.1853G>A" "r.(?)" "p.(Gly618Glu)" ""
"0000937022" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000937023" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" ""
"0000937024" "00001847" "70" "6220" "0" "6220" "0" "c.6220G>A" "r.(?)" "p.(Gly2074Ser)" ""
"0000937025" "00001847" "90" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973Ter)" ""
"0000937026" "00001847" "90" "3970" "0" "3970" "0" "c.3970del" "r.(?)" "p.(Ala1324ArgfsTer65)" ""
"0000937027" "00001847" "90" "454" "0" "454" "0" "c.454C>T" "r.(?)" "p.(Arg152Ter)" ""
"0000937028" "00001847" "50" "4650" "0" "4650" "0" "c.4650C>A" "r.(?)" "p.(Phe1550Leu)" ""
"0000937029" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" ""
"0000937030" "00001847" "50" "514" "0" "514" "0" "c.514G>A" "r.(?)" "p.(Gly172Ser)" ""
"0000937031" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" ""
"0000937032" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" ""
"0000937033" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" ""
"0000937034" "00001847" "90" "3970" "0" "3970" "0" "c.3970del" "r.(?)" "p.(Ala1324ArgfsTer65)" ""
"0000937035" "00001847" "50" "466" "0" "466" "0" "c.466A>G" "r.(?)" "p.(Ile156Val)" ""
"0000937036" "00001847" "90" "3259" "0" "3259" "0" "c.3259G>A" "r.(?)" "p.(Glu1087Lys)" ""
"0000937037" "00001847" "50" "926" "0" "926" "0" "c.926del" "r.(?)" "p.(Pro309GlnfsTer7)" ""
"0000937038" "00001847" "90" "3191" "-1" "3191" "-1" "c.3191-1G>T" "r.spl" "p.?" ""
"0000937039" "00001847" "70" "5413" "0" "5413" "0" "c.5413A>G" "r.(?)" "p.(Asn1805Asp)" ""
"0000937040" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" ""
"0000937041" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" ""
"0000937042" "00001847" "90" "686" "0" "686" "0" "c.686T>C" "r.(?)" "p.(Leu229Pro)" ""
"0000937043" "00001847" "30" "5715" "-5" "5715" "-5" "c.5715-5T>C" "r.spl" "p.?" ""
"0000937044" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.(2588g>c,2588_2590del)" "p.(Gly863Ala,Gly863del)" ""
"0000937045" "00001847" "90" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" ""
"0000937046" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(5461_5714del,5461_5584del)" "p.(Thr1821Aspfs*6,Thr1821Valfs*13)" ""
"0000937047" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(5461_5714del,5461_5584del)" "p.(Thr1821Aspfs*6,Thr1821Valfs*13)" ""
"0000937048" "00001847" "90" "3259" "0" "3259" "0" "c.3259G>T" "r.(?)" "p.(Glu1087Ter)" ""
"0000937049" "00001847" "90" "3259" "0" "3259" "0" "c.3259G>T" "r.(?)" "p.(Glu1087Ter)" ""
"0000937050" "00001847" "90" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973Ter)" ""
"0000937051" "00001847" "90" "2041" "0" "2041" "0" "c.2041C>T" "r.(?)" "p.(Arg681Ter)" ""
"0000937052" "00001847" "90" "4328" "0" "4328" "0" "c.4328G>A" "r.(?)" "p.(Arg1443His)" ""
"0000937053" "00001847" "90" "5137" "0" "5138" "0" "c.5137_5138delinsAG" "r.(?)" "p.(Gln1713Arg)" ""
"0000937054" "00001847" "90" "286" "0" "286" "0" "c.286A>G" "r.(?)" "p.(Asn96Asp)" ""
"0000937055" "00001847" "70" "2791" "0" "2791" "0" "c.2791G>A" "r.(?)" "p.(Val931Met)" ""
"0000937056" "00001847" "50" "668" "0" "668" "0" "c.668del" "r.(?)" "p.(Lys223ArgfsTer18)" ""
"0000937057" "00001847" "50" "668" "0" "668" "0" "c.668del" "r.(?)" "p.(Lys223ArgfsTer18)" ""
"0000937058" "00001847" "50" "2471" "0" "2471" "0" "c.2471T>C" "r.(?)" "p.(Ile824Thr)" ""
"0000937059" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" ""
"0000937060" "00001847" "90" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071CysfsTer14)" ""
"0000937061" "00001847" "90" "950" "0" "950" "0" "c.950del" "r.(?)" "p.(Gly317AlafsTer57)" ""
"0000937062" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000937063" "00001847" "50" "5313" "-1" "5313" "-1" "c.5313-1G>A" "r.spl" "p.?" ""
"0000937064" "00001847" "70" "1034" "0" "1034" "0" "c.1034A>G" "r.(?)" "p.(Tyr345Cys)" ""
"0000937065" "00001847" "90" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.(=,5196_5197ins5196+1140_5196+1212)" "p.(=,Met1733Glyfs*78)" ""
"0000937066" "00001847" "90" "3289" "0" "3289" "0" "c.3289A>T" "r.(?)" "p.(Arg1097Ter)" ""
"0000937067" "00001847" "90" "2463" "0" "2463" "0" "c.2463G>A" "r.(?)" "p.(Trp821Ter)" ""
"0000937068" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" ""
"0000937069" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" ""
"0000937070" "00001847" "50" "5018" "2" "5018" "2" "c.5018+2T>C" "r.spl" "p.?" ""
"0000937071" "00001847" "30" "4503" "0" "4503" "0" "c.4503G>C" "r.(?)" "p.(Glu1501Asp)" ""
"0000937072" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000937073" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000937074" "00001847" "50" "4253" "43" "4253" "43" "c.4253+43G>A" "r.(=,4129_4253del)" "p.(=,Ile1377Hisfs*3)" ""
"0000937075" "00001847" "90" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071CysfsTer14)" ""
"0000937076" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(5461_5714del,5461_5584del)" "p.(Thr1821Aspfs*6,Thr1821Valfs*13)" ""
"0000937077" "00001847" "90" "3499" "0" "3499" "0" "c.3499del" "r.(?)" "p.(Gln1167ArgfsTer29)" ""
"0000937078" "00001847" "90" "2443" "0" "2443" "0" "c.2443C>T" "r.(?)" "p.(Gln815Ter)" ""
"0000937079" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(5461_5714del,5461_5584del)" "p.(Thr1821Aspfs*6,Thr1821Valfs*13)" ""
"0000937080" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000937081" "00001847" "50" "2413" "0" "2413" "0" "c.2413G>C" "r.(?)" "p.(Gly805Arg)" ""
"0000937082" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(5461_5714del,5461_5584del)" "p.(Thr1821Aspfs*6,Thr1821Valfs*13)" ""
"0000937083" "00001847" "50" "2909" "0" "2909" "0" "c.2909C>T" "r.(?)" "p.(Thr970Ile)" ""
"0000937084" "00001847" "90" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973Ter)" ""
"0000937085" "00001847" "90" "6088" "0" "6088" "0" "c.6088C>T" "r.(?)" "p.(Arg2030Ter)" ""
"0000937086" "00001847" "90" "834" "0" "834" "0" "c.834del" "r.(?)" "p.(Asp279IlefsTer21)" ""
"0000937087" "00001847" "50" "3113" "0" "3113" "0" "c.3113C>A" "r.(?)" "p.(Ala1038Asp)" ""
"0000937088" "00001847" "90" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973Ter)" ""
"0000937089" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(5461_5714del,5461_5584del)" "p.(Thr1821Aspfs*6,Thr1821Valfs*13)" ""
"0000937090" "00001847" "70" "2791" "0" "2791" "0" "c.2791G>A" "r.(?)" "p.(Val931Met)" ""
"0000937091" "00001847" "90" "5313" "-2" "5313" "-2" "c.5313-2del" "r.spl" "p.?" ""
"0000937092" "00001847" "50" "571" "-1" "768" "1" "c.(570+1_571-1)_(768+1_769-1)del" "r.?" "p.?" "5i_6i"
"0000937093" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.768_769ins769+1_769+30" "p.(Leu257Valfs*17)" ""
"0000937094" "00001847" "90" "4537" "0" "4537" "0" "c.4537dup" "r.(spl?)" "p.(Gln1513ProfsTer42)" ""
"0000937095" "00001847" "90" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071CysfsTer14)" ""
"0000937096" "00001847" "50" "1357" "0" "1357" "0" "c.1357G>T" "r.spl?" "p.(Asp453Tyr,?)" ""
"0000937097" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.(2588g>c,2588_2590del)" "p.(Gly863Ala,Gly863del)" ""
"0000937098" "00001847" "90" "4328" "0" "4328" "0" "c.4328G>A" "r.(?)" "p.(Arg1443His)" ""
"0000937099" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.(2588g>c,2588_2590del)" "p.(Gly863Ala,Gly863del)" ""
"0000937100" "00001847" "70" "2549" "0" "2549" "0" "c.2549A>G" "r.(?)" "p.(Tyr850Cys)" ""
"0000937101" "00001847" "90" "1957" "0" "1957" "0" "c.1957C>T" "r.(?)" "p.(Arg653Cys)" ""
"0000937102" "00001847" "90" "1819" "0" "1819" "0" "c.1819G>A" "r.(?)" "p.(Gly607Arg)" ""
"0000937103" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(5461_5714del,5461_5584del)" "p.(Thr1821Aspfs*6,Thr1821Valfs*13)" ""
"0000937104" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.(2588g>c,2588_2590del)" "p.(Gly863Ala,Gly863del)" ""
"0000937105" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" ""
"0000937106" "00001847" "90" "3970" "0" "3970" "0" "c.3970del" "r.(?)" "p.(Ala1324ArgfsTer65)" ""
"0000937107" "00001847" "90" "5327" "0" "5327" "0" "c.5327C>T" "r.(?)" "p.(Pro1776Leu)" ""
"0000937108" "00001847" "90" "5327" "0" "5327" "0" "c.5327C>T" "r.(?)" "p.(Pro1776Leu)" ""
"0000937109" "00001847" "90" "4222" "0" "4222" "0" "c.4222T>C" "r.(?)" "p.(Trp1408Arg)" ""
"0000937110" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000937111" "00001847" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Ter)" ""
"0000937112" "00001847" "90" "286" "0" "286" "0" "c.286A>C" "r.(?)" "p.(Asn96His)" ""
"0000937113" "00001847" "50" "1468" "0" "1468" "0" "c.(1468C>T)" "r.(?)" "p.(Gln490Ter)" ""
"0000937114" "00001847" "70" "160" "0" "160" "0" "c.160T>G" "r.spl?" "p.(Cys54Gly,?)" ""
"0000937115" "00001847" "90" "286" "0" "286" "0" "c.286A>G" "r.(?)" "p.(Asn96Asp)" ""
"0000937116" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" ""
"0000937117" "00001847" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Ter)" ""
"0000937118" "00001847" "50" "3608" "-1" "3608" "-1" "c.3608-1G>A" "r.spl" "p.?" ""
"0000937119" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" ""
"0000937120" "00001847" "50" "2494" "0" "2494" "0" "c.2494G>T" "r.(?)" "p.(Asp832Tyr)" ""
"0000937121" "00001847" "50" "466" "0" "466" "0" "c.466A>G" "r.(?)" "p.(Ile156Val)" ""
"0000937122" "00001847" "50" "466" "0" "466" "0" "c.466A>G" "r.(?)" "p.(Ile156Val)" ""
"0000937123" "00001847" "90" "3970" "0" "3970" "0" "c.3970del" "r.(?)" "p.(Ala1324ArgfsTer65)" ""
"0000937124" "00001847" "50" "4304" "0" "4304" "0" "c.4304T>C" "r.(?)" "p.(Leu1435Pro)" ""
"0000937125" "00001847" "90" "4539" "2064" "4539" "2064" "c.4539+2064C>T" "r.(=,4539_4540ins4539+1891_4540-2162)" "p.(=,Arg1514Leufs*36)" ""
"0000937126" "00001847" "70" "4128" "0" "4128" "0" "c.4128G>A" "r.4128_4129ins4128+1_4128+12" "p.(Gln1376_Ile1377insValLeuLeuSer)" ""
"0000937127" "00001847" "50" "2820" "0" "2820" "0" "c.2820del" "r.(?)" "p.(Cys941ValfsTer9)" ""
"0000937128" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" ""
"0000937129" "00001847" "90" "4919" "0" "4919" "0" "c.4919G>A" "r.(?)" "p.(Arg1640Gln)" ""
"0000937130" "00001847" "90" "4919" "0" "4919" "0" "c.4919G>A" "r.(?)" "p.(Arg1640Gln)" ""
"0000937131" "00001847" "90" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" ""
"0000937132" "00001847" "50" "2790" "0" "2790" "0" "c.2790C>A" "r.(?)" "p.(Cys930Ter)" ""
"0000937133" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.(2588g>c,2588_2590del)" "p.(Gly863Ala,Gly863del)" ""
"0000937134" "00001847" "50" "4462" "0" "4462" "0" "c.4462T>A" "r.(?)" "p.(Cys1488Ser)" ""
"0000937135" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" ""
"0000937136" "00001847" "90" "3323" "0" "3323" "0" "c.3323G>A" "r.(?)" "p.(Arg1108His)" ""
"0000937137" "00001847" "90" "2971" "0" "2971" "0" "c.2971G>C" "r.(?)" "p.(Gly991Arg)" ""
"0000937138" "00001847" "50" "1211" "0" "1211" "0" "c.1211C>T" "r.(?)" "p.(Ser404Leu)" ""
"0000937139" "00001847" "90" "4919" "0" "4919" "0" "c.4919G>A" "r.(?)" "p.(Arg1640Gln)" ""
"0000937140" "00001847" "50" "67" "-2023" "67" "-2023" "c.67-2023T>G" "r.(66_67ins67-2266_67-2024,=)" "p.(IIe23IIefs*30,=)" ""
"0000937141" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" ""
"0000937142" "00001847" "50" "294" "0" "294" "0" "c.294C>G" "r.(?)" "p.(Asn98Lys)" ""
"0000937143" "00001847" "90" "71" "0" "71" "0" "c.71G>A" "r.(?)" "p.(Arg24His)" ""
"0000937144" "00001847" "70" "2566" "0" "2566" "0" "c.2566T>A" "r.(?)" "p.(Tyr856Asn)" ""
"0000937145" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" ""
"0000937146" "00001847" "90" "52" "0" "52" "0" "c.52C>T" "r.(?)" "p.(Arg18Trp)" ""
"0000937147" "00001847" "70" "688" "0" "688" "0" "c.688T>A" "r.(?)" "p.(Cys230Ser)" ""
"0000937148" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000937149" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" ""
"0000937150" "00001847" "90" "2919" "-1" "3328" "1" "c.(2918+1_2919-1)_(3328+1_3329-1)del" "r.?" "p.?" "19i_22i"
"0000937151" "00001847" "90" "2919" "-1" "3328" "1" "c.(2918+1_2919-1)_(3328+1_3329-1)del" "r.?" "p.?" "19i_22i"
"0000937152" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(5461_5714del,5461_5584del)" "p.(Thr1821Aspfs*6,Thr1821Valfs*13)" ""
"0000937153" "00001847" "90" "1086" "0" "1086" "0" "c.1086T>A" "r.(?)" "p.(Tyr362Ter)" ""
"0000937154" "00001847" "90" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" ""
"0000937155" "00001847" "90" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" ""
"0000937156" "00001847" "70" "4128" "0" "4128" "0" "c.4128G>C" "r.4128_4129ins4128+1_4128+12" "p.(Gln1376_Ile1377insValLeuLeuSer)" ""
"0000937157" "00001847" "70" "868" "0" "868" "0" "c.868C>T" "r.(?)" "p.(Arg290Trp)" ""
"0000937158" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" ""
"0000937159" "00001847" "70" "4926" "0" "4926" "0" "c.4926C>G" "r.(?)" "p.(Ser1642Arg)" ""
"0000937160" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" ""
"0000937161" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000937162" "00001847" "90" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" ""
"0000937163" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(5461_5714del,5461_5584del)" "p.(Thr1821Aspfs*6,Thr1821Valfs*13)" ""
"0000937164" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" ""
"0000937165" "00001847" "90" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" ""
"0000937166" "00001847" "90" "1015" "0" "1015" "0" "c.1015T>G" "r.(?)" "p.(Trp339Gly)" ""
"0000937167" "00001847" "90" "731" "0" "731" "0" "c.731T>C" "r.(?)" "p.(Leu244Pro)" ""
"0000937168" "00001847" "90" "3259" "0" "3259" "0" "c.3259G>A" "r.(?)" "p.(Glu1087Lys)" ""
"0000937169" "00001847" "70" "710" "0" "710" "0" "c.710T>C" "r.(?)" "p.(Leu237Pro)" ""
"0000937170" "00001847" "90" "686" "0" "686" "0" "c.686T>C" "r.(?)" "p.(Leu229Pro)" ""
"0000937171" "00001847" "50" "353" "0" "371" "0" "c.353_371dup" "r.(?)" "p.(Ile125GlufsTer42)" ""
"0000937172" "00001847" "90" "3994" "0" "3994" "0" "c.3994C>T" "r.(?)" "p.(Gln1332Ter)" ""
"0000937173" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000937174" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" ""
"0000937175" "00001847" "90" "5381" "0" "5381" "0" "c.5381C>A" "r.(?)" "p.(Ala1794Asp)" ""
"0000937176" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" ""
"0000937177" "00001847" "70" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" ""
"0000937178" "00001847" "90" "5196" "1" "5196" "1" "c.5196+1G>A" "r.spl" "p.?" ""
"0000937179" "00001847" "90" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973Ter)" ""
"0000937180" "00001847" "90" "286" "0" "286" "0" "c.286A>G" "r.(?)" "p.(Asn96Asp)" ""
"0000937181" "00001847" "50" "4129" "-3" "4129" "-3" "c.4129-3C>A" "r.spl" "p.?" ""
"0000937182" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000937183" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" ""
"0000937184" "00001847" "90" "4457" "0" "4457" "0" "c.4457C>T" "r.(?)" "p.(Pro1486Leu)" ""
"0000937185" "00001847" "90" "5318" "0" "5318" "0" "c.5318C>T" "r.(?)" "p.(Ala1773Val)" ""
"0000937186" "00001847" "90" "1958" "0" "1958" "0" "c.1958G>A" "r.(?)" "p.(Arg653His)" ""
"0000937187" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000937188" "00001847" "90" "3813" "0" "3813" "0" "c.3813G>C" "r.3608_3813del" "p.(Gly1203Aspfs*10)" ""
"0000937189" "00001847" "90" "3085" "0" "3085" "0" "c.3085C>T" "r.(?)" "p.(Gln1029Ter)" ""
"0000937190" "00001847" "70" "53" "0" "53" "0" "c.53G>A" "r.(?)" "p.(Arg18Gln)" ""
"0000937191" "00001847" "50" "4253" "43" "4253" "43" "c.4253+43G>A" "r.(=,4129_4253del)" "p.(=,Ile1377Hisfs*3)" ""
"0000937192" "00001847" "50" "1356" "5" "1356" "5" "c.1356+5G>A" "r.spl?" "p.?" ""
"0000937193" "00001847" "90" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" ""
"0000937194" "00001847" "70" "3064" "0" "3064" "0" "c.3064G>A" "r.(?)" "p.(Glu1022Lys)" ""
"0000937195" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(5461_5714del,5461_5584del)" "p.(Thr1821Aspfs*6,Thr1821Valfs*13)" ""
"0000937196" "00001847" "90" "286" "0" "286" "0" "c.286A>G" "r.(?)" "p.(Asn96Asp)" ""
"0000937197" "00001847" "50" "1283" "0" "1283" "0" "c.1283T>A" "r.(?)" "p.(Val428Asp)" ""
"0000937198" "00001847" "70" "5087" "0" "5087" "0" "c.5087G>A" "r.(?)" "p.(Ser1696Asn)" ""
"0000937199" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" ""
"0000937200" "00001847" "70" "2791" "0" "2791" "0" "c.2791G>A" "r.(?)" "p.(Val931Met)" ""
"0000937201" "00001847" "90" "3056" "0" "3056" "0" "c.3056C>T" "r.(?)" "p.(Thr1019Met)" ""
"0000937202" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" ""
"0000937203" "00001847" "90" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" ""
"0000937204" "00001847" "90" "3813" "0" "3813" "0" "c.3813G>C" "r.3608_3813del" "p.(Gly1203Aspfs*10)" ""
"0000937205" "00001847" "50" "4253" "43" "4253" "43" "c.4253+43G>A" "r.(=,4129_4253del)" "p.(=,Ile1377Hisfs*3)" ""
"0000937206" "00001847" "70" "3064" "0" "3064" "0" "c.3064G>A" "r.(?)" "p.(Glu1022Lys)" ""
"0000937207" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.(2588g>c,2588_2590del)" "p.(Gly863Ala,Gly863del)" ""
"0000937208" "00001847" "70" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" ""
"0000937209" "00001847" "50" "1555" "-1" "1555" "-1" "c.1555-1G>A" "r.spl" "p.?" ""
"0000937210" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000937211" "00001847" "90" "286" "0" "286" "0" "c.286A>G" "r.(?)" "p.(Asn96Asp)" ""
"0000937212" "00001847" "90" "4539" "1" "4539" "1" "c.4539+1G>T" "r.spl" "p.?" ""
"0000937213" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" ""
"0000937214" "00001847" "90" "3085" "0" "3085" "0" "c.3085C>T" "r.(?)" "p.(Gln1029Ter)" ""
"0000937215" "00001847" "50" "2616" "0" "2616" "0" "c.2616C>A" "r.(?)" "p.(Tyr872Ter)" ""
"0000937216" "00001847" "90" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973Ter)" ""
"0000937217" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" ""
"0000937218" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" ""
"0000937219" "00001847" "50" "2969" "0" "2969" "0" "c.2969G>T" "r.(?)" "p.(Gly990Val)" ""
"0000937220" "00001847" "90" "1343" "0" "1343" "0" "c.1343T>A" "r.(?)" "p.(Met448Lys)" ""
"0000937221" "00001847" "50" "5069" "0" "5069" "0" "c.5069T>G" "r.(?)" "p.(Met1690Arg)" ""
"0000937222" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000937223" "00001847" "70" "1844" "0" "1844" "0" "c.1844T>C" "r.(?)" "p.(Val615Ala)" ""
"0000937224" "00001847" "90" "286" "0" "286" "0" "c.286A>G" "r.(?)" "p.(Asn96Asp)" ""
"0000937225" "00001847" "70" "4926" "0" "4926" "0" "c.4926C>G" "r.(?)" "p.(Ser1642Arg)" ""
"0000937226" "00001847" "90" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071CysfsTer14)" ""
"0000937227" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(5461_5714del,5461_5584del)" "p.(Thr1821Aspfs*6,Thr1821Valfs*13)" ""
"0000937228" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" ""
"0000937229" "00001847" "90" "2876" "0" "2876" "0" "c.2876C>T" "r.(?)" "p.(Thr959Ile)" ""
"0000937230" "00001847" "90" "5137" "0" "5138" "0" "c.5137_5138delinsAG" "r.(?)" "p.(Gln1713Arg)" ""
"0000937231" "00001847" "50" "3191" "-11" "3191" "-11" "c.3191-11T>A" "r.3190_3191ins3191-1_3191-9" "p.(Gly1064delinsValProProGly)" ""
"0000937232" "00001847" "30" "667" "0" "667" "0" "c.667A>C" "r.(?)" "p.(Lys223Gln)" ""
"0000937233" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.(2588g>c,2588_2590del)" "p.(Gly863Ala,Gly863del)" ""
"0000937234" "00001847" "50" "188" "0" "188" "0" "c.188C>T" "r.(?)" "p.(Ser63Leu)" ""
"0000937235" "00001847" "90" "1648" "0" "1648" "0" "c.1648G>T" "r.(?)" "p.(Gly550Ter)" ""
"0000937236" "00001847" "50" "5924" "0" "5924" "0" "c.5924G>T" "r.(?)" "p.(Gly1975Val)" ""
"0000937237" "00001847" "90" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071CysfsTer14)" ""
"0000937238" "00001847" "90" "2971" "0" "2971" "0" "c.2971G>C" "r.(?)" "p.(Gly991Arg)" ""
"0000937239" "00001847" "50" "4253" "43" "4253" "43" "c.4253+43G>A" "r.(=,4129_4253del)" "p.(=,Ile1377Hisfs*3)" ""
"0000937240" "00001847" "90" "2971" "0" "2971" "0" "c.2971G>C" "r.(?)" "p.(Gly991Arg)" ""
"0000937241" "00001847" "90" "1957" "0" "1957" "0" "c.1957C>T" "r.(?)" "p.(Arg653Cys)" ""
"0000937242" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.(2588g>c,2588_2590del)" "p.(Gly863Ala,Gly863del)" ""
"0000937243" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(5461_5714del,5461_5584del)" "p.(Thr1821Aspfs*6,Thr1821Valfs*13)" ""
"0000937244" "00001847" "90" "4537" "0" "4537" "0" "c.4537dup" "r.(spl?)" "p.(Gln1513ProfsTer42)" ""
"0000937245" "00001847" "90" "93" "0" "93" "0" "c.93G>A" "r.(?)" "p.(Trp31Ter)" ""
"0000937246" "00001847" "50" "2160" "1" "2160" "1" "c.2160+1G>T" "r.spl" "p.?" ""
"0000937247" "00001847" "70" "1253" "0" "1253" "0" "c.1253T>C" "r.(?)" "p.(Phe418Ser)" ""
"0000937248" "00001847" "90" "4919" "0" "4919" "0" "c.4919G>A" "r.(?)" "p.(Arg1640Gln)" ""
"0000937249" "00001847" "90" "1819" "0" "1819" "0" "c.1819G>A" "r.(?)" "p.(Gly607Arg)" ""
"0000937250" "00001847" "90" "3292" "0" "3292" "0" "c.3292C>T" "r.(?)" "p.(Arg1098Cys)" ""
"0000937251" "00001847" "50" "1283" "0" "1283" "0" "c.1283T>A" "r.(?)" "p.(Val428Asp)" ""
"0000937252" "00001847" "70" "1749" "0" "1749" "0" "c.1749G>C" "r.(?)" "p.(Lys583Asn)" ""
"0000937253" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" ""
"0000937254" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" ""
"0000937255" "00001847" "90" "1099" "1" "1099" "1" "c.1099+1G>A" "r.spl" "p.?" ""
"0000937256" "00001847" "50" "1283" "0" "1283" "0" "c.1283T>A" "r.(?)" "p.(Val428Asp)" ""
"0000937257" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(5461_5714del,5461_5584del)" "p.(Thr1821Aspfs*6,Thr1821Valfs*13)" ""
"0000937258" "00001847" "90" "6088" "0" "6088" "0" "c.6088C>T" "r.(?)" "p.(Arg2030Ter)" ""
"0000937259" "00001847" "90" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973Ter)" ""
"0000937260" "00001847" "50" "1922" "0" "1922" "0" "c.1922G>A" "r.(?)" "p.(Cys641Tyr)" ""
"0000937261" "00001847" "90" "286" "0" "286" "0" "c.286A>G" "r.(?)" "p.(Asn96Asp)" ""
"0000937262" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.(2588g>c,2588_2590del)" "p.(Gly863Ala,Gly863del)" ""
"0000937263" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" ""
"0000937264" "00001847" "70" "1852" "0" "1852" "0" "c.1852G>A" "r.(?)" "p.(Gly618Arg)" ""
"0000937265" "00001847" "90" "5929" "0" "5929" "0" "c.5929G>A" "r.(?)" "p.(Gly1977Ser)" ""
"0000937266" "00001847" "90" "3085" "0" "3085" "0" "c.3085C>T" "r.(?)" "p.(Gln1029Ter)" ""
"0000937267" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000937268" "00001847" "50" "854" "0" "854" "0" "c.854A>C" "r.(?)" "p.(Gln285Pro)" ""
"0000937269" "00001847" "90" "4539" "2001" "4539" "2001" "c.4539+2001G>A" "r.(=,4539_4540ins4539+1891_4540-2162)" "p.(=,Arg1514Leufs*36)" ""
"0000937270" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(5461_5714del,5461_5584del)" "p.(Thr1821Aspfs*6,Thr1821Valfs*13)" ""
"0000937271" "00001847" "90" "4069" "0" "4069" "0" "c.4069G>A" "r.(?)" "p.(Ala1357Thr)" ""
"0000937272" "00001847" "50" "88" "0" "88" "0" "c.88G>A" "r.(?)" "p.(Val30Met)" ""
"0000937273" "00001847" "90" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973Ter)" ""
"0000937274" "00001847" "50" "5177" "0" "5177" "0" "c.5177C>A" "r.(?)" "p.(Thr1726Asn)" ""
"0000937275" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.(2588g>c,2588_2590del)" "p.(Gly863Ala,Gly863del)" ""
"0000937276" "00001847" "90" "203" "0" "203" "0" "c.203C>G" "r.(?)" "p.(Pro68Arg)" ""
"0000937277" "00001847" "90" "1957" "0" "1957" "0" "c.1957C>T" "r.(?)" "p.(Arg653Cys)" ""
"0000937278" "00001847" "90" "2463" "0" "2463" "0" "c.2463G>A" "r.(?)" "p.(Trp821Ter)" ""
"0000937279" "00001847" "90" "4070" "0" "4070" "0" "c.4070C>T" "r.(?)" "p.(Ala1357Val)" ""
"0000937280" "00001847" "50" "5085" "0" "5086" "0" "c.5085_5086insT" "r.(?)" "p.(Ser1696Ter)" ""
"0000937281" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" ""
"0000937282" "00001847" "90" "3682" "0" "3682" "0" "c.3682G>T" "r.(?)" "p.(Glu1228Ter)" ""
"0000937283" "00001847" "50" "4253" "43" "4253" "43" "c.4253+43G>A" "r.(=,4129_4253del)" "p.(=,Ile1377Hisfs*3)" ""
"0000937284" "00001847" "70" "3295" "0" "3295" "0" "c.3295T>C" "r.(?)" "p.(Ser1099Pro)" ""
"0000937285" "00001847" "70" "3295" "0" "3295" "0" "c.3295T>C" "r.(?)" "p.(Ser1099Pro)" ""
"0000937286" "00001847" "90" "1957" "0" "1957" "0" "c.1957C>T" "r.(?)" "p.(Arg653Cys)" ""
"0000937287" "00001847" "70" "428" "0" "428" "0" "c.428C>T" "r.(?)" "p.(Pro143Leu)" ""
"0000937288" "00001847" "90" "1317" "0" "1317" "0" "c.1317G>A" "r.(?)" "p.(Trp439Ter)" ""
"0000937289" "00001847" "50" "2843" "0" "2843" "0" "c.2843G>C" "r.(?)" "p.(Arg948Pro)" ""
"0000937290" "00001847" "70" "5527" "0" "5527" "0" "c.5527C>T" "r.(?)" "p.(Arg1843Trp)" ""
"0000937291" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" ""
"0000937292" "00001847" "90" "950" "0" "950" "0" "c.950del" "r.(?)" "p.(Gly317AlafsTer57)" ""
"0000937293" "00001847" "90" "4919" "0" "4919" "0" "c.4919G>A" "r.(?)" "p.(Arg1640Gln)" ""
"0000937294" "00001847" "50" "5621" "0" "5621" "0" "c.5621T>C" "r.(?)" "p.(Leu1874Pro)" ""
"0000937295" "00001847" "50" "5171" "0" "5171" "0" "c.5171G>A" "r.(?)" "p.(Trp1724Ter)" ""
"0000937296" "00001847" "90" "5929" "0" "5929" "0" "c.5929G>A" "r.(?)" "p.(Gly1977Ser)" ""
"0000937297" "00001847" "90" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973Ter)" ""
"0000937298" "00001847" "90" "194" "0" "194" "0" "c.194G>A" "r.(?)" "p.(Gly65Glu)" ""
"0000937299" "00001847" "90" "3085" "0" "3085" "0" "c.3085C>T" "r.(?)" "p.(Gln1029Ter)" ""
"0000937300" "00001847" "90" "2099" "0" "2099" "0" "c.2099G>A" "r.(?)" "p.(Trp700Ter)" ""
"0000937301" "00001847" "50" "1510" "0" "1510" "0" "c.1510A>T" "r.(?)" "p.(Asn504Tyr)" ""
"0000937302" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" ""
"0000937303" "00001847" "90" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973Ter)" ""
"0000937304" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" ""
"0000937305" "00001847" "50" "4253" "43" "4253" "43" "c.4253+43G>A" "r.(=,4129_4253del)" "p.(=,Ile1377Hisfs*3)" ""
"0000937306" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000937307" "00001847" "90" "71" "0" "71" "0" "c.71G>A" "r.(?)" "p.(Arg24His)" ""
"0000937308" "00001847" "50" "474" "0" "474" "0" "c.474A>C" "r.(?)" "p.(Lys158Asn)" ""
"0000937309" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" ""
"0000937310" "00001847" "90" "4253" "5" "4253" "5" "c.4253+5G>A" "r.4129_4253del" "p.(Ile1377Hisfs*3)" ""
"0000937311" "00001847" "90" "2023" "0" "2023" "0" "c.2023G>A" "r.(?)" "p.(Val675Ile)" ""
"0000937312" "00001847" "90" "4919" "0" "4919" "0" "c.4919G>A" "r.(?)" "p.(Arg1640Gln)" ""
"0000937313" "00001847" "90" "5929" "0" "5929" "0" "c.5929G>A" "r.(?)" "p.(Gly1977Ser)" ""
"0000937314" "00001847" "90" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973Ter)" ""
"0000937315" "00001847" "90" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973Ter)" ""
"0000937316" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.(2588g>c,2588_2590del)" "p.(Gly863Ala,Gly863del)" ""
"0000937317" "00001847" "50" "671" "0" "671" "0" "c.671C>T" "r.(?)" "p.(Thr224Met)" ""
"0000937318" "00001847" "50" "335" "0" "335" "0" "c.335T>G" "r.(?)" "p.(Leu112Arg)" ""
"0000937319" "00001847" "70" "3377" "0" "3377" "0" "c.3377T>C" "r.(?)" "p.(Leu1126Pro)" ""
"0000937320" "00001847" "50" "1288" "0" "1288" "0" "c.1288G>C" "r.(?)" "p.(Ala430Pro)" ""
"0000937321" "00001847" "70" "2864" "0" "2864" "0" "c.2864A>G" "r.(?)" "p.(Glu955Gly)" ""
"0000937322" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" ""
"0000937323" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" ""
"0000937324" "00001847" "90" "735" "0" "735" "0" "c.735T>G" "r.(?)" "p.(Tyr245Ter)" ""
"0000937325" "00001847" "70" "3295" "0" "3295" "0" "c.3295T>C" "r.(?)" "p.(Ser1099Pro)" ""
"0000937326" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" ""
"0000937327" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" ""
"0000937328" "00001847" "50" "1592" "0" "1592" "0" "c.1592A>G" "r.(?)" "p.(Glu531Gly)" ""
"0000937329" "00001847" "50" "466" "0" "466" "0" "c.466A>G" "r.(?)" "p.(Ile156Val)" ""
"0000937330" "00001847" "90" "194" "0" "194" "0" "c.194G>A" "r.(?)" "p.(Gly65Glu)" ""
"0000937331" "00001847" "50" "4481" "0" "4485" "0" "c.4481_4485delinsGCA" "r.(?)" "p.(Glu1494GlyfsTer60)" ""
"0000937332" "00001847" "90" "4328" "0" "4328" "0" "c.4328G>A" "r.(?)" "p.(Arg1443His)" ""
"0000937333" "00001847" "50" "5177" "0" "5177" "0" "c.5177C>A" "r.(?)" "p.(Thr1726Asn)" ""
"0000937334" "00001847" "90" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071CysfsTer14)" ""
"0000937335" "00001847" "90" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973Ter)" ""
"0000937336" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(5461_5714del,5461_5584del)" "p.(Thr1821Aspfs*6,Thr1821Valfs*13)" ""
"0000937337" "00001847" "90" "2971" "0" "2971" "0" "c.2971G>C" "r.(?)" "p.(Gly991Arg)" ""
"0000937338" "00001847" "90" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.(=,5196_5197ins5196+1140_5196+1212)" "p.(=,Met1733Glufs*78)" ""
"0000937339" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" ""
"0000937340" "00001847" "90" "286" "0" "286" "0" "c.286A>G" "r.(?)" "p.(Asn96Asp)" ""
"0000937341" "00001847" "90" "3056" "0" "3056" "0" "c.3056C>T" "r.(?)" "p.(Thr1019Met)" ""
"0000937342" "00001847" "90" "3323" "0" "3323" "0" "c.3323G>A" "r.(?)" "p.(Arg1108His)" ""
"0000937343" "00001847" "90" "735" "0" "735" "0" "c.735T>G" "r.(?)" "p.(Tyr245Ter)" ""
"0000937344" "00001847" "90" "885" "0" "885" "0" "c.885del" "r.(?)" "p.(Leu296CysfsTer4)" ""
"0000937345" "00001847" "90" "4710" "0" "4710" "0" "c.4710del" "r.(?)" "p.(Ile1571SerfsTer10)" ""
"0000937346" "00001847" "90" "3292" "0" "3292" "0" "c.3292C>T" "r.(?)" "p.(Arg1098Cys)" ""
"0000937347" "00001847" "90" "2774" "0" "2774" "0" "c.2774G>A" "r.(?)" "p.(Trp925Ter)" ""
"0000937348" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.(=,5585_5714del)" "p.(Glu1863Leufs*33,=)" ""
"0000937349" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(5461_5714del,5461_5584del)" "p.(Thr1821Aspfs*6,Thr1821Valfs*13)" ""
"0000937350" "00001847" "90" "4720" "0" "4720" "0" "c.4720G>T" "r.(?)" "p.(Glu1574Ter)" ""
"0000937351" "00001847" "90" "686" "0" "686" "0" "c.686T>C" "r.(?)" "p.(Leu229Pro)" ""
"0000937352" "00001847" "90" "5899" "-2" "5899" "-2" "c.5899-2del" "r.spl" "p.?" ""
"0000937353" "00001847" "50" "2007" "0" "2007" "0" "c.2007G>C" "r.(?)" "p.(Met669Ile)" ""
"0000937354" "00001847" "70" "4179" "0" "4179" "0" "c.4179del" "r.(?)" "p.(Ile1394SerfsTer10)" ""
"0000937355" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.(2588g>c,2588_2590del)" "p.(Gly863Ala,Gly863del)" ""
"0000937356" "00001847" "90" "1805" "0" "1805" "0" "c.1805G>A" "r.(?)" "p.(Arg602Gln)" ""
"0000937357" "00001847" "50" "88" "0" "88" "0" "c.88G>A" "r.(?)" "p.(Val30Met)" ""
"0000937358" "00001847" "70" "2743" "0" "2743" "0" "c.2743G>A" "r.spl?" "p.(Asp915Asn,?)" ""
"0000937359" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" ""
"0000937360" "00001847" "90" "2966" "0" "2966" "0" "c.2966T>C" "r.(?)" "p.(Val989Ala)" ""
"0000937361" "00001847" "90" "4667" "1" "4667" "1" "c.4667+1G>A" "r.spl" "p.?" ""
"0000937362" "00001847" "90" "1714" "0" "1714" "0" "c.1714C>T" "r.(?)" "p.(Arg572Ter)" ""
"0000937363" "00001847" "90" "2041" "0" "2041" "0" "c.2041C>T" "r.(?)" "p.(Arg681Ter)" ""
"0000937364" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.(=,5585_5714del)" "p.(Glu1863Leufs*33,=)" ""
"0000937365" "00001847" "90" "4328" "0" "4328" "0" "c.4328G>A" "r.(?)" "p.(Arg1443His)" ""
"0000937366" "00001847" "90" "3323" "0" "3323" "0" "c.3323G>A" "r.(?)" "p.(Arg1108His)" ""
"0000937367" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.(2588g>c,2588_2590del)" "p.(Gly863Ala,Gly863del)" ""
"0000937368" "00001847" "90" "286" "0" "286" "0" "c.286A>G" "r.(?)" "p.(Asn96Asp)" ""
"0000937369" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" ""
"0000937370" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" ""
"0000937371" "00001847" "70" "1019" "0" "1019" "0" "c.1019A>G" "r.(?)" "p.(Tyr340Cys)" ""
"0000937372" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" ""
"0000937373" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" ""
"0000937374" "00001847" "70" "868" "0" "868" "0" "c.868C>T" "r.(?)" "p.(Arg290Trp)" ""
"0000937375" "00001847" "70" "868" "0" "868" "0" "c.868C>T" "r.(?)" "p.(Arg290Trp)" ""
"0000937376" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" ""
"0000937377" "00001847" "90" "194" "0" "194" "0" "c.194G>A" "r.(?)" "p.(Gly65Glu)" ""
"0000937378" "00001847" "50" "5514" "0" "5523" "0" "c.5514_5523dup" "r.(?)" "p.(Gly1842LeufsTer9)" ""
"0000937379" "00001847" "50" "3706" "0" "3706" "0" "c.3706A>T" "r.(?)" "p.(Lys1236Ter)" ""
"0000937380" "00001847" "90" "4253" "5" "4253" "5" "c.4253+5G>A" "r.4129_4253del" "p.(Ile1377Hisfs*3)" ""
"0000937381" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" ""
"0000937382" "00001847" "70" "1853" "0" "1853" "0" "c.1853G>A" "r.(?)" "p.(Gly618Glu)" ""
"0000937383" "00001847" "50" "452" "0" "452" "0" "c.452T>C" "r.(?)" "p.(Ile151Thr)" ""
"0000937384" "00001847" "50" "692" "0" "692" "0" "c.692C>G" "r.(?)" "p.(Ser231Cys)" ""
"0000937385" "00001847" "90" "179" "0" "179" "0" "c.179C>T" "r.(?)" "p.(Ala60Val)" ""
"0000937386" "00001847" "70" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.(Met1?)" ""
"0000937387" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(5461_5714del,5461_5584del)" "p.(Thr1821Aspfs*6,Thr1821Valfs*13)" ""
"0000937388" "00001847" "90" "6658" "0" "6658" "0" "c.6658C>T" "r.(?)" "p.(Gln2220Ter)" ""
"0000937389" "00001847" "90" "1938" "-1" "1938" "-1" "c.1938-1G>A" "r.spl" "p.?" ""
"0000937390" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000937391" "00001847" "90" "1957" "0" "1957" "0" "c.1957C>T" "r.(?)" "p.(Arg653Cys)" ""
"0000937392" "00001847" "90" "214" "0" "214" "0" "c.214G>A" "r.(?)" "p.(Gly72Arg)" ""
"0000937393" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" ""
"0000937394" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(5461_5714del,5461_5584del)" "p.(Thr1821Aspfs*6,Thr1821Valfs*13)" ""
"0000937395" "00001847" "90" "2947" "0" "2947" "0" "c.2947A>G" "r.(?)" "p.(Thr983Ala)" ""
"0000937396" "00001847" "90" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071CysfsTer14)" ""
"0000937397" "00001847" "50" "1616" "0" "1616" "0" "c.1616T>C" "r.(?)" "p.(Leu539Pro)" ""
"0000937398" "00001847" "90" "1819" "0" "1819" "0" "c.1819G>A" "r.(?)" "p.(Gly607Arg)" ""
"0000937399" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000937400" "00001847" "50" "3745" "0" "3745" "0" "c.3745G>T" "r.(?)" "p.(Glu1249Ter)" ""
"0000937401" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.(2588g>c,2588_2590del)" "p.(Gly863Ala,Gly863del)" ""
"0000937402" "00001847" "50" "4253" "43" "4253" "43" "c.4253+43G>A" "r.(=,4129_4253del)" "p.(=,Ile1377Hisfs*3)" ""
"0000937403" "00001847" "70" "5186" "0" "5186" "0" "c.5186T>C" "r.(?)" "p.(Leu1729Pro)" ""
"0000937404" "00001847" "90" "1015" "0" "1015" "0" "c.1015T>G" "r.(?)" "p.(Trp339Gly)" ""
"0000937405" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" ""
"0000937406" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" ""
"0000937407" "00001847" "50" "1648" "0" "1659" "0" "c.1648_1659del" "r.(?)" "p.(Gly550_Phe553del)" ""
"0000937408" "00001847" "90" "1937" "1" "1937" "1" "c.1937+1G>A" "r.spl" "p.?" ""
"0000937409" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(5461_5714del,5461_5584del)" "p.(Thr1821Aspfs*6,Thr1821Valfs*13)" ""
"0000937410" "00001847" "90" "1015" "0" "1015" "0" "c.1015T>G" "r.(?)" "p.(Trp339Gly)" ""
"0000937411" "00001847" "90" "4069" "0" "4069" "0" "c.4069G>A" "r.(?)" "p.(Ala1357Thr)" ""
"0000937412" "00001847" "90" "4363" "0" "4363" "0" "c.4363T>C" "r.(?)" "p.(Cys1455Arg)" ""
"0000937413" "00001847" "90" "4352" "1" "4352" "1" "c.4352+1G>A" "r.spl" "p.?" ""
"0000937414" "00001847" "50" "2919" "-732" "2919" "-731" "c.2919-732_2919-731del" "r.(?)" "p.(?)" "19i"
"0000937415" "00001847" "90" "286" "0" "286" "0" "c.286A>C" "r.(?)" "p.(Asn96His)" ""
"0000937416" "00001847" "90" "505" "0" "505" "0" "c.505A>T" "r.(?)" "p.(Lys169Ter)" ""
"0000937417" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" ""
"0000937418" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" ""
"0000937419" "00001847" "70" "6220" "0" "6220" "0" "c.6220G>A" "r.(?)" "p.(Gly2074Ser)" ""
"0000937420" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.(2588g>c,2588_2590del)" "p.(Gly863Ala,Gly863del)" ""
"0000937421" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" ""
"0000937422" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" ""
"0000937423" "00001847" "90" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973Ter)" ""
"0000937424" "00001847" "70" "2566" "0" "2566" "0" "c.2566T>A" "r.(?)" "p.(Tyr856Asn)" ""
"0000937425" "00001847" "50" "88" "0" "88" "0" "c.88G>A" "r.(?)" "p.(Val30Met)" ""
"0000937426" "00001847" "90" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973Ter)" ""
"0000937427" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" ""
"0000937428" "00001847" "90" "2023" "0" "2023" "0" "c.2023G>A" "r.(?)" "p.(Val675Ile)" ""
"0000937429" "00001847" "90" "1086" "0" "1086" "0" "c.1086T>A" "r.(?)" "p.(Tyr362Ter)" ""
"0000937430" "00001847" "90" "570" "1" "570" "8" "c.570+1_570+8del" "r.spl" "p.?" ""
"0000937431" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" ""
"0000937432" "00001847" "90" "4102" "0" "4102" "0" "c.4102C>T" "r.(?)" "p.(Arg1368Cys)" ""
"0000937433" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" ""
"0000937434" "00001847" "90" "1015" "0" "1015" "0" "c.1015T>G" "r.(?)" "p.(Trp339Gly)" ""
"0000937435" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.(2588g>c,2588_2590del)" "p.(Gly863Ala,Gly863del)" ""
"0000937436" "00001847" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Ter)" ""
"0000937437" "00001847" "50" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" ""
"0000937438" "00001847" "50" "4228" "0" "4228" "0" "c.4228T>A" "r.(?)" "p.(Tyr1410Asn)" ""
"0000937439" "00001847" "50" "2519" "0" "2519" "0" "c.2519T>G" "r.(?)" "p.(Met840Arg)" ""
"0000937440" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" ""
"0000937441" "00001847" "90" "1086" "0" "1086" "0" "c.1086T>A" "r.(?)" "p.(Tyr362Ter)" ""
"0000937442" "00001847" "90" "735" "0" "735" "0" "c.735T>G" "r.(?)" "p.(Tyr245Ter)" ""
"0000937443" "00001847" "90" "3970" "0" "3970" "0" "c.3970del" "r.(?)" "p.(Ala1324ArgfsTer65)" ""
"0000937444" "00001847" "70" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.(Met1?)" ""
"0000937445" "00001847" "70" "4610" "0" "4610" "0" "c.4610C>T" "r.(?)" "p.(Thr1537Met)" ""
"0000937446" "00001847" "90" "2966" "0" "2966" "0" "c.2966T>C" "r.(?)" "p.(Val989Ala)" ""
"0000937447" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" ""
"0000937448" "00001847" "50" "858" "1" "858" "1" "c.858+1G>C" "r.spl" "p.?" ""
"0000937449" "00001847" "90" "179" "0" "179" "0" "c.179C>T" "r.(?)" "p.(Ala60Val)" ""
"0000937450" "00001847" "50" "6512" "0" "6512" "0" "c.6512T>G" "r.(?)" "p.(Ile2171Ser)" ""
"0000937451" "00001847" "50" "769" "-1" "858" "1" "c.(768+1_769-1)_(858+1_859-1)del" "r.?" "p.?" "6i_7i"
"0000937452" "00001847" "90" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" ""
"0000937453" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" ""
"0000937454" "00001847" "50" "" "0" "" "0" "c.-104_(66+1_67-1){0}" "r.0?" "p.0?" "_1_1i"
"0000937455" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" ""
"0000937456" "00001847" "90" "3056" "0" "3056" "0" "c.3056C>T" "r.(?)" "p.(Thr1019Met)" ""
"0000937457" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.(=,5585_5714del)" "p.(Glu1863Leufs*33,=)" ""
"0000937458" "00001847" "50" "1495" "0" "1495" "0" "c.1495T>C" "r.(?)" "p.(Trp499Arg)" ""
"0000937459" "00001847" "90" "4363" "0" "4363" "0" "c.4363T>C" "r.(?)" "p.(Cys1455Arg)" ""
"0000937460" "00001847" "90" "71" "0" "71" "0" "c.71G>A" "r.(?)" "p.(Arg24His)" ""
"0000937461" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000937462" "00001847" "70" "1034" "0" "1034" "0" "c.1034A>G" "r.(?)" "p.(Tyr345Cys)" ""
"0000937463" "00001847" "90" "4919" "0" "4919" "0" "c.4919G>A" "r.(?)" "p.(Arg1640Gln)" ""
"0000937464" "00001847" "90" "2966" "0" "2966" "0" "c.2966T>C" "r.(?)" "p.(Val989Ala)" ""
"0000937465" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.(2588g>c,2588_2590del)" "p.(Gly863Ala,Gly863del)" ""
"0000937466" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(5461_5714del,5461_5584del)" "p.(Thr1821Aspfs*6,Thr1821Valfs*13)" ""
"0000937467" "00001847" "90" "2300" "0" "2300" "0" "c.2300T>A" "r.(?)" "p.(Val767Asp)" ""
"0000937468" "00001847" "90" "1958" "0" "1958" "0" "c.1958G>A" "r.(?)" "p.(Arg653His)" ""
"0000937469" "00001847" "70" "4128" "0" "4128" "0" "c.4128G>A" "r.4128_4129ins4128+1_4128+12" "p.(Gln1376_Ile1377insValLeuLeuSer)" ""
"0000937470" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000937471" "00001847" "90" "3212" "0" "3212" "0" "c.3212C>T" "r.(?)" "p.(Ser1071Leu)" ""
"0000937472" "00001847" "90" "4222" "0" "4222" "0" "c.4222T>C" "r.(?)" "p.(Trp1408Arg)" ""
"0000937473" "00001847" "90" "1819" "0" "1819" "0" "c.1819G>A" "r.(?)" "p.(Gly607Arg)" ""
"0000937474" "00001847" "50" "2161" "-1" "2587" "1" "c.(2160+1_2161-1)_(2587+1_2588-1)del" "r.?" "p.?" "14i_16i"
"0000937475" "00001847" "90" "1015" "0" "1015" "0" "c.1015T>G" "r.(?)" "p.(Trp339Gly)" ""
"0000937476" "00001847" "50" "1706" "0" "1706" "0" "c.1706A>G" "r.(?)" "p.(Tyr569Cys)" ""
"0000937477" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" ""
"0000937478" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" ""
"0000937479" "00001847" "90" "4539" "2064" "4539" "2064" "c.4539+2064C>T" "r.(=,4539_4540ins4539+1891_4540-2162)" "p.(=,Arg1514Leufs*36)" ""
"0000937480" "00001847" "50" "3409" "0" "3409" "0" "c.3409A>G" "r.(?)" "p.(Arg1137Gly)" ""
"0000937481" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" ""
"0000937482" "00001847" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Ter)" ""
"0000937483" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.(2588g>c,2588_2590del)" "p.(Gly863Ala,Gly863del)" ""
"0000937484" "00001847" "90" "1819" "0" "1819" "0" "c.1819G>A" "r.(?)" "p.(Gly607Arg)" ""
"0000937485" "00001847" "90" "950" "0" "950" "0" "c.950del" "r.(?)" "p.(Gly317AlafsTer57)" ""
"0000937486" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" ""
"0000937487" "00001847" "90" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071CysfsTer14)" ""
"0000937488" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" ""
"0000937489" "00001847" "90" "5892" "0" "5892" "0" "c.5892del" "r.(?)" "p.(Gly1965GlufsTer9)" ""
"0000937490" "00001847" "50" "4635" "-1" "5584" "1" "c.(4634+1_4635-1)_(5584+1_5585-1)dup" "r.?" "p.?" "31i_39i"
"0000937491" "00001847" "70" "1798" "0" "1798" "0" "c.1798G>T" "r.(?)" "p.(Asp600Tyr)" ""
"0000937492" "00001847" "50" "452" "0" "452" "0" "c.452T>C" "r.(?)" "p.(Ile151Thr)" ""
"0000937493" "00001847" "50" "452" "0" "452" "0" "c.452T>C" "r.(?)" "p.(Ile151Thr)" ""
"0000937494" "00001847" "90" "2966" "0" "2966" "0" "c.2966T>C" "r.(?)" "p.(Val989Ala)" ""
"0000937495" "00001847" "70" "2813" "0" "2813" "0" "c.2813T>C" "r.(?)" "p.(Phe938Ser)" ""
"0000937496" "00001847" "90" "3898" "0" "3898" "0" "c.3898C>T" "r.(?)" "p.(Arg1300Ter)" ""
"0000937497" "00001847" "50" "671" "0" "671" "0" "c.671C>T" "r.(?)" "p.(Thr224Met)" ""
"0000937498" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.(2588g>c,2588_2590del)" "p.(Gly863Ala,Gly863del)" ""
"0000937499" "00001847" "50" "4635" "-1" "5584" "1" "c.(4634+1_4635-1)_(5584+1_5585-1)dup" "r.?" "p.?" "31i_39i"
"0000937500" "00001847" "90" "3988" "0" "3988" "0" "c.3988G>T" "r.(?)" "p.(Glu1330Ter)" ""
"0000937501" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(5461_5714del,5461_5584del)" "p.(Thr1821Aspfs*6,Thr1821Valfs*13)" ""
"0000937502" "00001847" "90" "286" "0" "286" "0" "c.286A>G" "r.(?)" "p.(Asn96Asp)" ""
"0000937503" "00001847" "70" "869" "0" "869" "0" "c.869G>A" "r.(?)" "p.(Arg290Gln)" ""
"0000937504" "00001847" "90" "2041" "0" "2041" "0" "c.2041C>T" "r.(?)" "p.(Arg681Ter)" ""
"0000937505" "00001847" "90" "885" "0" "885" "0" "c.885del" "r.(?)" "p.(Leu296CysfsTer4)" ""
"0000937506" "00001847" "50" "4129" "-2" "4129" "-2" "c.4129-2A>T" "r.spl" "p.?" ""
"0000937507" "00001847" "90" "4537" "0" "4537" "0" "c.4537dup" "r.(spl?)" "p.(Gln1513ProfsTer42)" ""
"0000937508" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" ""
"0000937509" "00001847" "70" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.(Met1?)" ""
"0000937510" "00001847" "70" "3064" "0" "3064" "0" "c.3064G>A" "r.(?)" "p.(Glu1022Lys)" ""
"0000937511" "00001847" "50" "823" "0" "823" "0" "c.823G>T" "r.(?)" "p.(Gly275Ter)" ""
"0000937512" "00001847" "70" "4128" "0" "4128" "0" "c.4128G>C" "r.4128_4129ins4128+1_4128+12" "p.(Gln1376_Ile1377insValLeuLeuSer)" ""
"0000937513" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" ""
"0000937514" "00001847" "90" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.(=,5196_5197ins5196+1140_5196+1212)" "p.(=,Met1733Glufs*78)" ""
"0000937515" "00001847" "90" "3994" "0" "3994" "0" "c.3994C>T" "r.(?)" "p.(Gln1332Ter)" ""
"0000937516" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.(2588g>c,2588_2590del)" "p.(Gly863Ala,Gly863del)" ""
"0000937517" "00001847" "50" "1319" "0" "1319" "0" "c.1319A>G" "r.(?)" "p.(Tyr440Cys)" ""
"0000937518" "00001847" "50" "3863" "-1" "4539" "1" "c.(3862+1_3863-1)_(4539+1_4540-1)del" "r.?" "p.?" "26i_30i"
"0000937519" "00001847" "90" "3898" "0" "3898" "0" "c.3898C>T" "r.(?)" "p.(Arg1300Ter)" ""
"0000937520" "00001847" "90" "5318" "0" "5318" "0" "c.5318C>T" "r.(?)" "p.(Ala1773Val)" ""
"0000937521" "00001847" "50" "733" "0" "733" "0" "c.733T>C" "r.(?)" "p.(Tyr245His)" ""
"0000937522" "00001847" "90" "735" "0" "735" "0" "c.735T>G" "r.(?)" "p.(Tyr245Ter)" ""
"0000937523" "00001847" "90" "3874" "0" "3874" "0" "c.3874C>T" "r.(?)" "p.(Gln1292Ter)" ""
"0000937524" "00001847" "50" "1468" "0" "1468" "0" "c.1468C>T" "r.(?)" "p.(Gln490Ter)" ""
"0000937525" "00001847" "90" "1018" "0" "1018" "0" "c.1018T>C" "r.(?)" "p.(Tyr340His)" ""
"0000937526" "00001847" "90" "194" "0" "194" "0" "c.194G>A" "r.(?)" "p.(Gly65Glu)" ""
"0000937527" "00001847" "90" "3874" "0" "3874" "0" "c.3874C>T" "r.(?)" "p.(Gln1292Ter)" ""
"0000937528" "00001847" "50" "452" "0" "452" "0" "c.452T>C" "r.(?)" "p.(Ile151Thr)" ""
"0000937529" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" ""
"0000937530" "00001847" "50" "466" "0" "466" "0" "c.466A>G" "r.(?)" "p.(Ile156Val)" ""
"0000937531" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" ""
"0000937532" "00001847" "90" "286" "0" "286" "0" "c.286A>G" "r.(?)" "p.(Asn96Asp)" ""
"0000937533" "00001847" "50" "1016" "0" "1022" "0" "c.1016_1022dup" "r.(?)" "p.(Asp342ValfsTer2)" ""
"0000937534" "00001847" "90" "1819" "0" "1819" "0" "c.1819G>A" "r.(?)" "p.(Gly607Arg)" ""
"0000937535" "00001847" "90" "735" "0" "735" "0" "c.735T>G" "r.(?)" "p.(Tyr245Ter)" ""
"0000937536" "00001847" "90" "6088" "0" "6088" "0" "c.6088C>T" "r.(?)" "p.(Arg2030Ter)" ""
"0000937537" "00001847" "50" "4231" "0" "4231" "0" "c.4231G>T" "r.(?)" "p.(Gly1411Trp)" ""
"0000937538" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.768_769ins769+1_769+30" "p.(Leu257Valfs*17)" ""
"0000937539" "00001847" "50" "3344" "0" "3344" "0" "c.3344T>C" "r.(?)" "p.(Met1115Thr)" ""
"0000937540" "00001847" "90" "93" "0" "93" "0" "c.93G>A" "r.(?)" "p.(Trp31Ter)" ""
"0000937541" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.(2588g>c,2588_2590del)" "p.(Gly863Ala,Gly863del)" ""
"0000937542" "00001847" "50" "3617" "0" "3617" "0" "c.3617del" "r.(?)" "p.(Asn1206MetfsTer3)" ""
"0000937543" "00001847" "70" "3814" "-2" "3814" "-2" "c.3814-2A>G" "r.spl" "p.?" ""
"0000937544" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000937545" "00001847" "70" "4926" "0" "4926" "0" "c.4926C>G" "r.(?)" "p.(Ser1642Arg)" ""
"0000937546" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" ""
"0000937547" "00001847" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Ter)" ""
"0000937548" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000937549" "00001847" "90" "1957" "0" "1957" "0" "c.1957C>T" "r.(?)" "p.(Arg653Cys)" ""
"0000937550" "00001847" "90" "2966" "0" "2966" "0" "c.2966T>C" "r.(?)" "p.(Val989Ala)" ""
"0000937551" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000937552" "00001847" "90" "2966" "0" "2966" "0" "c.2966T>C" "r.(?)" "p.(Val989Ala)" ""
"0000937553" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" ""
"0000937554" "00001847" "90" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" ""
"0000937555" "00001847" "90" "3056" "0" "3056" "0" "c.3056C>T" "r.(?)" "p.(Thr1019Met)" ""
"0000937556" "00001847" "90" "686" "0" "686" "0" "c.686T>C" "r.(?)" "p.(Leu229Pro)" ""
"0000937557" "00001847" "50" "2942" "0" "2942" "0" "c.2942C>T" "r.(?)" "p.(Pro981Leu)" ""
"0000937558" "00001847" "90" "4352" "1" "4352" "1" "c.4352+1G>A" "r.spl" "p.?" ""
"0000937559" "00001847" "90" "3085" "0" "3085" "0" "c.3085C>T" "r.(?)" "p.(Gln1029Ter)" ""
"0000937560" "00001847" "50" "3862" "0" "3862" "0" "c.3862G>T" "r.(?)" "p.(Gly1288Cys)" ""
"0000937561" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" ""
"0000937562" "00001847" "90" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071CysfsTer14)" ""
"0000937563" "00001847" "90" "5892" "0" "5892" "0" "c.5892del" "r.(?)" "p.(Gly1965GlufsTer9)" ""
"0000937564" "00001847" "50" "4685" "0" "4685" "0" "c.4685T>C" "r.(?)" "p.(Ile1562Thr)" ""
"0000937565" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(5461_5714del,5461_5584del)" "p.(Thr1821Aspfs*6,Thr1821Valfs*13)" ""
"0000937566" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" ""
"0000937567" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.(=,5585_5714del)" "p.(Glu1863Leufs*33,=)" ""
"0000937568" "00001847" "90" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973Ter)" ""
"0000937569" "00001847" "90" "735" "0" "735" "0" "c.735T>G" "r.(?)" "p.(Tyr245Ter)" ""
"0000937570" "00001847" "70" "6220" "0" "6220" "0" "c.6220G>A" "r.(?)" "p.(Gly2074Ser)" ""
"0000937571" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(5461_5714del,5461_5584del)" "p.(Thr1821Aspfs*6,Thr1821Valfs*13)" ""
"0000937572" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.(2588g>c,2588_2590del)" "p.(Gly863Ala,Gly863del)" ""
"0000937573" "00001847" "90" "1648" "0" "1648" "0" "c.1648G>A" "r.(?)" "p.(Gly550Arg)" ""
"0000937574" "00001847" "90" "179" "0" "179" "0" "c.179C>T" "r.(?)" "p.(Ala60Val)" ""
"0000937575" "00001847" "90" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973Ter)" ""
"0000937576" "00001847" "90" "1015" "0" "1015" "0" "c.1015T>G" "r.(?)" "p.(Trp339Gly)" ""
"0000937577" "00001847" "50" "452" "0" "452" "0" "c.452T>C" "r.(?)" "p.(Ile151Thr)" ""
"0000937578" "00001847" "50" "1211" "0" "1211" "0" "c.1211C>T" "r.(?)" "p.(Ser404Leu)" ""
"0000937579" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000937580" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" ""
"0000937581" "00001847" "90" "4253" "5" "4253" "5" "c.4253+5G>A" "r.4129_4253del" "p.(Ile1377Hisfs*3)" ""
"0000937582" "00001847" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Ter)" ""
"0000937583" "00001847" "90" "5318" "0" "5318" "0" "c.5318C>T" "r.(?)" "p.(Ala1773Val)" ""
"0000937584" "00001847" "90" "286" "0" "286" "0" "c.286A>G" "r.(?)" "p.(Asn96Asp)" ""
"0000937585" "00001847" "90" "1957" "0" "1957" "0" "c.1957C>T" "r.(?)" "p.(Arg653Cys)" ""
"0000937586" "00001847" "50" "5522" "0" "5522" "0" "c.5522T>A" "r.(?)" "p.(Leu1841Gln)" ""
"0000937587" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" ""
"0000937588" "00001847" "90" "2023" "0" "2023" "0" "c.2023G>A" "r.(?)" "p.(Val675Ile)" ""
"0000937589" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.(2588g>c,2588_2590del)" "p.(Gly863Ala,Gly863del)" ""
"0000937590" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.(2588g>c,2588_2590del)" "p.(Gly863Ala,Gly863del)" ""
"0000937591" "00001847" "90" "4069" "0" "4069" "0" "c.4069G>A" "r.(?)" "p.(Ala1357Thr)" ""
"0000937592" "00001847" "90" "1015" "0" "1015" "0" "c.1015T>G" "r.(?)" "p.(Trp339Gly)" ""
"0000937593" "00001847" "90" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" ""
"0000937594" "00001847" "50" "656" "0" "656" "0" "c.656G>C" "r.(?)" "p.(Arg219Thr)" ""
"0000937595" "00001847" "50" "3409" "0" "3409" "0" "c.3409A>G" "r.(?)" "p.(Arg1137Gly)" ""
"0000937596" "00001847" "90" "1015" "0" "1015" "0" "c.1015T>G" "r.(?)" "p.(Trp339Gly)" ""
"0000937597" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.(=,5585_5714del)" "p.(Glu1863Leufs*33,=)" ""
"0000937598" "00001847" "90" "655" "0" "655" "0" "c.655A>T" "r.(?)" "p.(Arg219Ter)" ""
"0000937599" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.(=,5585_5714del)" "p.(Glu1863Leufs*33,=)" ""
"0000937600" "00001847" "90" "6329" "0" "6329" "0" "c.6329G>A" "r.(?)" "p.(Trp2110Ter)" ""
"0000937601" "00001847" "50" "3608" "-6" "3608" "-6" "c.3608-6del" "r.spl" "p.?" ""
"0000937602" "00001847" "70" "2571" "0" "2571" "0" "c.2571del" "r.(?)" "p.(Asp858IlefsTer43)" ""
"0000937603" "00001847" "90" "6449" "0" "6449" "0" "c.6449G>A" "r.(?)" "p.(Cys2150Tyr)" ""
"0000937604" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" ""
"0000937605" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.(2588g>c,2588_2590del)" "p.(Gly863Ala,Gly863del)" ""
"0000937606" "00001847" "70" "2571" "0" "2571" "0" "c.2571del" "r.(?)" "p.(Asp858IlefsTer43)" ""
"0000937607" "00001847" "70" "2571" "0" "2571" "0" "c.2571del" "r.(?)" "p.(Asp858IlefsTer43)" ""
"0000937608" "00001847" "70" "3329" "-1" "3329" "-1" "c.3329-1G>A" "r.spl" "p.?" ""
"0000937609" "00001847" "70" "2791" "0" "2791" "0" "c.2791G>A" "r.(?)" "p.(Val931Met)" ""
"0000937610" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" ""
"0000937611" "00001847" "90" "5892" "0" "5892" "0" "c.5892del" "r.(?)" "p.(Gly1965GlufsTer9)" ""
"0000937612" "00001847" "90" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071CysfsTer14)" ""
"0000937613" "00001847" "90" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" ""
"0000937614" "00001847" "90" "6088" "0" "6088" "0" "c.6088C>T" "r.(?)" "p.(Arg2030Ter)" ""
"0000937615" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000937616" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(5461_5714del,5461_5584del)" "p.(Thr1821Aspfs*6,Thr1821Valfs*13)" ""
"0000937617" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" ""
"0000937618" "00001847" "90" "1015" "0" "1015" "0" "c.1015T>G" "r.(?)" "p.(Trp339Gly)" ""
"0000937619" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" ""
"0000937620" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.(2588g>c,2588_2590del)" "p.(Gly863Ala,Gly863del)" ""
"0000937621" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" ""
"0000937622" "00001847" "70" "4926" "0" "4926" "0" "c.4926C>G" "r.(?)" "p.(Ser1642Arg)" ""
"0000937623" "00001847" "90" "454" "0" "454" "0" "c.454C>T" "r.(?)" "p.(Arg152Ter)" ""
"0000937624" "00001847" "90" "5381" "0" "5381" "0" "c.5381C>A" "r.(?)" "p.(Ala1794Asp)" ""
"0000937625" "00001847" "90" "1609" "0" "1609" "0" "c.1609C>T" "r.(?)" "p.(Arg537Cys)" ""
"0000937626" "00001847" "90" "3364" "0" "3364" "0" "c.3364G>A" "r.(?)" "p.(Glu1122Lys)" ""
"0000937627" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.(=,5585_5714del)" "p.(Glu1863Leufs*33,=)" ""
"0000937628" "00001847" "90" "1958" "0" "1958" "0" "c.1958G>A" "r.(?)" "p.(Arg653His)" ""
"0000937629" "00001847" "90" "2564" "0" "2564" "0" "c.2564G>A" "r.(?)" "p.(Trp855Ter)" ""
"0000937630" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" ""
"0000937631" "00001847" "90" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" ""
"0000937632" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.(2588g>c,2588_2590del)" "p.(Gly863Ala,Gly863del)" ""
"0000937633" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.(2588g>c,2588_2590del)" "p.(Gly863Ala,Gly863del)" ""
"0000937634" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" ""
"0000937635" "00001847" "90" "2069" "0" "2069" "0" "c.2069del" "r.(?)" "p.(Gly690ValfsTer6)" ""
"0000937636" "00001847" "90" "2069" "0" "2069" "0" "c.2069del" "r.(?)" "p.(Gly690ValfsTer6)" ""
"0000937637" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.(2588g>c,2588_2590del)" "p.(Gly863Ala,Gly863del)" ""
"0000937638" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" ""
"0000937639" "00001847" "90" "2594" "0" "2595" "0" "c.2594_2595del" "r.(?)" "p.(Tyr865TrpfsTer19)" ""
"0000937640" "00001847" "50" "2819" "0" "2819" "0" "c.2819C>G" "r.(?)" "p.(Pro940Arg)" ""
"0000937641" "00001847" "90" "1015" "0" "1015" "0" "c.1015T>G" "r.(?)" "p.(Trp339Gly)" ""
"0000937642" "00001847" "50" "671" "0" "671" "0" "c.671C>T" "r.(?)" "p.(Thr224Met)" ""
"0000937643" "00001847" "70" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" ""
"0000937644" "00001847" "50" "2909" "0" "2909" "0" "c.2909C>T" "r.(?)" "p.(Thr970Ile)" ""
"0000937645" "00001847" "70" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" ""
"0000937646" "00001847" "90" "203" "0" "203" "0" "c.203C>T" "r.(?)" "p.(Pro68Leu)" ""
"0000937647" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" ""
"0000937648" "00001847" "50" "3099" "0" "3099" "0" "c.3099del" "r.(?)" "p.(Lys1033AsnfsTer51)" ""
"0000937649" "00001847" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Ter)" ""
"0000937650" "00001847" "50" "1760" "0" "1760" "0" "c.1760G>T" "r.spl?" "p.(Arg587Met,?)" ""
"0000937651" "00001847" "50" "2673" "0" "2676" "0" "c.2673_2676del" "r.(?)" "p.(Arg892ProfsTer8)" ""
"0000937652" "00001847" "90" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071CysfsTer14)" ""
"0000937653" "00001847" "90" "286" "0" "286" "0" "c.286A>G" "r.(?)" "p.(Asn96Asp)" ""
"0000937654" "00001847" "90" "1015" "0" "1015" "0" "c.1015T>G" "r.(?)" "p.(Trp339Gly)" ""
"0000937655" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" ""
"0000937656" "00001847" "70" "1844" "0" "1844" "0" "c.1844T>C" "r.(?)" "p.(Val615Ala)" ""
"0000937657" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.(2588g>c,2588_2590del)" "p.(Gly863Ala,Gly863del)" ""
"0000937658" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(5461_5714del,5461_5584del)" "p.(Thr1821Aspfs*6,Thr1821Valfs*13)" ""
"0000937659" "00001847" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Ter)" ""
"0000937660" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" ""
"0000937661" "00001847" "90" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" ""
"0000937662" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" ""
"0000937663" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" ""
"0000937664" "00001847" "50" "1877" "0" "1877" "0" "c.1877C>T" "r.(?)" "p.(Ala626Val)" ""
"0000937665" "00001847" "90" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071CysfsTer14)" ""
"0000937666" "00001847" "90" "4457" "0" "4457" "0" "c.4457C>T" "r.(?)" "p.(Pro1486Leu)" ""
"0000937667" "00001847" "50" "4228" "0" "4228" "0" "c.4228T>A" "r.(?)" "p.(Tyr1410Asn)" ""
"0000937668" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" ""
"0000937669" "00001847" "90" "1015" "0" "1015" "0" "c.1015T>G" "r.(?)" "p.(Trp339Gly)" ""
"0000937670" "00001847" "90" "6693" "0" "6693" "0" "c.6693del" "r.(?)" "p.(Ile2231MetfsTer16)" ""
"0000937671" "00001847" "50" "3113" "0" "3113" "0" "c.3113C>A" "r.(?)" "p.(Ala1038Asp)" ""
"0000937672" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" ""
"0000937673" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" ""
"0000937674" "00001847" "90" "6181" "0" "6184" "0" "c.6181_6184del" "r.(?)" "p.(Thr2061SerfsTer53)" ""
"0000937675" "00001847" "70" "2791" "0" "2791" "0" "c.2791G>A" "r.(?)" "p.(Val931Met)" ""
"0000937676" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" ""
"0000937677" "00001847" "90" "1957" "0" "1957" "0" "c.1957C>T" "r.(?)" "p.(Arg653Cys)" ""
"0000937678" "00001847" "90" "6449" "0" "6449" "0" "c.6449G>A" "r.(?)" "p.(Cys2150Tyr)" ""
"0000937679" "00001847" "90" "3970" "0" "3970" "0" "c.3970del" "r.(?)" "p.(Ala1324ArgfsTer65)" ""
"0000937680" "00001847" "90" "5327" "0" "5327" "0" "c.5327C>T" "r.(?)" "p.(Pro1776Leu)" ""
"0000937681" "00001847" "90" "5381" "0" "5381" "0" "c.5381C>A" "r.(?)" "p.(Ala1794Asp)" ""
"0000937682" "00001847" "50" "5764" "0" "5765" "0" "c.5764_5765insTG" "r.(?)" "p.(Ala1922ValfsTer18)" ""
"0000937683" "00001847" "90" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071CysfsTer14)" ""
"0000937684" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" ""
"0000937685" "00001847" "90" "52" "0" "52" "0" "c.52C>T" "r.(?)" "p.(Arg18Trp)" ""
"0000937686" "00001847" "90" "1957" "0" "1957" "0" "c.1957C>T" "r.(?)" "p.(Arg653Cys)" ""
"0000937687" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" ""
"0000937688" "00001847" "50" "4253" "43" "4253" "43" "c.4253+43G>A" "r.(=,4129_4253del)" "p.(=,Ile1377Hisfs*3)" ""
"0000937689" "00001847" "90" "179" "0" "179" "0" "c.179C>T" "r.(?)" "p.(Ala60Val)" ""
"0000937690" "00001847" "50" "86" "0" "86" "0" "c.86T>G" "r.(?)" "p.(Leu29Arg)" ""
"0000937691" "00001847" "90" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" ""
"0000937692" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000937693" "00001847" "70" "658" "0" "658" "0" "c.658C>T" "r.(?)" "p.(Arg220Cys)" ""
"0000937694" "00001847" "50" "4634" "3" "4634" "3" "c.4634+3A>T" "r.spl" "p.?" ""
"0000937695" "00001847" "90" "5381" "0" "5381" "0" "c.5381C>A" "r.(?)" "p.(Ala1794Asp)" ""
"0000937696" "00001847" "90" "5318" "0" "5318" "0" "c.5318C>T" "r.(?)" "p.(Ala1773Val)" ""
"0000937697" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" ""
"0000937698" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" ""
"0000937699" "00001847" "90" "4567" "0" "4567" "0" "c.4567C>T" "r.(?)" "p.(Gln1523Ter)" ""
"0000937700" "00001847" "50" "2413" "0" "2413" "0" "c.2413G>C" "r.(?)" "p.(Gly805Arg)" ""
"0000937701" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" ""
"0000937702" "00001847" "70" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" ""
"0000937703" "00001847" "70" "1760" "1" "1760" "1" "c.1760+1G>A" "r.spl" "p.?" ""
"0000937704" "00001847" "90" "1015" "0" "1015" "0" "c.1015T>G" "r.(?)" "p.(Trp339Gly)" ""
"0000937705" "00001847" "90" "5313" "-2" "5313" "-2" "c.5313-2del" "r.spl" "p.?" ""
"0000937706" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" ""
"0000937707" "00001847" "50" "2254" "0" "2254" "0" "c.2254dup" "r.(?)" "p.(Ser752LysfsTer14)" ""
"0000937708" "00001847" "90" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" ""
"0000937709" "00001847" "90" "4352" "1" "4352" "1" "c.4352+1G>A" "r.spl" "p.?" ""
"0000937710" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" ""
"0000937711" "00001847" "90" "950" "0" "950" "0" "c.950del" "r.(?)" "p.(Gly317AlafsTer57)" ""
"0000937712" "00001847" "90" "6386" "1" "6386" "1" "c.6386+1G>A" "r.spl" "p.?" ""
"0000937713" "00001847" "90" "4316" "0" "4316" "0" "c.4316G>A" "r.(?)" "p.(Gly1439Asp)" ""
"0000937714" "00001847" "90" "6658" "0" "6658" "0" "c.6658C>T" "r.(?)" "p.(Gln2220Ter)" ""
"0000937715" "00001847" "90" "1015" "0" "1015" "0" "c.1015T>G" "r.(?)" "p.(Trp339Gly)" ""
"0000937716" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.(2588g>c,2588_2590del)" "p.(Gly863Ala,Gly863del)" ""
"0000937717" "00001847" "70" "6287" "0" "6287" "0" "c.6287A>G" "r.(?)" "p.(Glu2096Gly)" ""
"0000937718" "00001847" "70" "2571" "0" "2571" "0" "c.2571del" "r.(?)" "p.(Asp858IlefsTer43)" ""
"0000937719" "00001847" "90" "1086" "0" "1086" "0" "c.1086T>A" "r.(?)" "p.(Tyr362Ter)" ""
"0000937720" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" ""
"0000937721" "00001847" "70" "5324" "0" "5324" "0" "c.5324T>A" "r.(?)" "p.(Ile1775Asn)" ""
"0000937722" "00001847" "90" "454" "0" "454" "0" "c.454C>T" "r.(?)" "p.(Arg152Ter)" ""
"0000937723" "00001847" "90" "71" "0" "71" "0" "c.71G>A" "r.(?)" "p.(Arg24His)" ""
"0000937724" "00001847" "50" "2868" "0" "2868" "0" "c.2868C>A" "r.(?)" "p.(Asn956Lys)" ""
"0000937725" "00001847" "50" "1937" "4" "1937" "4" "c.1937+4A>T" "r.spl" "p.?" ""
"0000937726" "00001847" "50" "1964" "0" "1964" "0" "c.1964T>A" "r.(?)" "p.(Phe655Tyr)" ""
"0000937727" "00001847" "50" "4481" "0" "4485" "0" "c.4481_4485delinsGCA" "r.(?)" "p.(Glu1494GlyfsTer60)" ""
"0000937728" "00001847" "50" "2257" "0" "2257" "0" "c.2257A>C" "r.(?)" "p.(Thr753Pro)" ""
"0000937729" "00001847" "90" "2041" "0" "2041" "0" "c.2041C>T" "r.(?)" "p.(Arg681Ter)" ""
"0000937730" "00001847" "50" "3289" "0" "3289" "0" "c.3289A>G" "r.(?)" "p.(Arg1097Gly)" ""
"0000937731" "00001847" "70" "3814" "-2" "3814" "-2" "c.3814-2A>G" "r.spl" "p.?" ""
"0000937732" "00001847" "90" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" ""
"0000937733" "00001847" "70" "1760" "1" "1760" "1" "c.1760+1G>A" "r.spl" "p.?" ""
"0000937734" "00001847" "50" "1922" "0" "1922" "0" "c.1922G>C" "r.(?)" "p.(Cys641Ser)" ""
"0000937735" "00001847" "50" "1552" "0" "1552" "0" "c.1552G>T" "r.(?)" "p.(Glu518Ter)" ""
"0000937736" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" ""
"0000937737" "00001847" "90" "4195" "0" "4195" "0" "c.4195G>A" "r.(?)" "p.(Glu1399Lys)" ""
"0000937738" "00001847" "90" "2300" "0" "2300" "0" "c.2300T>A" "r.(?)" "p.(Val767Asp)" ""
"0000937739" "00001847" "90" "5929" "0" "5929" "0" "c.5929G>A" "r.(?)" "p.(Gly1977Ser)" ""
"0000937740" "00001847" "90" "4222" "0" "4222" "0" "c.4222T>C" "r.(?)" "p.(Trp1408Arg)" ""
"0000937741" "00001847" "90" "1819" "0" "1819" "0" "c.1819G>C" "r.(?)" "p.(Gly607Arg)" ""
"0000937742" "00001847" "90" "686" "0" "686" "0" "c.686T>C" "r.(?)" "p.(Leu229Pro)" ""
"0000937743" "00001847" "50" "2426" "0" "2426" "0" "c.2426T>C" "r.(?)" "p.(Leu809Pro)" ""
"0000937744" "00001847" "70" "1019" "0" "1019" "0" "c.1019A>G" "r.(?)" "p.(Tyr340Cys)" ""
"0000937745" "00001847" "50" "5051" "0" "5051" "0" "c.5051T>A" "r.(?)" "p.(Ile1684Asn)" ""
"0000937746" "00001847" "50" "1922" "0" "1922" "0" "c.1922G>C" "r.(?)" "p.(Cys641Ser)" ""
"0000937747" "00001847" "90" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071CysfsTer14)" ""
"0000937748" "00001847" "50" "4685" "0" "4685" "0" "c.4685T>C" "r.(?)" "p.(Ile1562Thr)" ""
"0000937749" "00001847" "90" "6316" "0" "6316" "0" "c.6316C>T" "r.(?)" "p.(Arg2106Cys)" ""
"0000937750" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" ""
"0000937751" "00001847" "90" "885" "0" "885" "0" "c.885del" "r.(?)" "p.(Leu296CysfsTer4)" ""
"0000937752" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" ""
"0000937753" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" ""
"0000937754" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" ""
"0000937755" "00001847" "90" "5018" "2" "5018" "2" "c.5018+2T>C" "r.spl" "p.?" ""
"0000937756" "00001847" "90" "265" "0" "265" "0" "c.265G>T" "r.(?)" "p.(Glu89Ter)" ""
"0000937757" "00001847" "50" "4539" "0" "4539" "0" "c.4539G>C" "r.spl?" "p.(Gln1513His);?" ""
"0000937758" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" ""
"0000937759" "00001847" "90" "3289" "0" "3289" "0" "c.3289A>T" "r.(?)" "p.(Arg1097Ter)" ""
"0000937760" "00001847" "50" "4844" "0" "4844" "0" "c.4844T>A" "r.(?)" "p.(Ile1615Asn)" ""
"0000937761" "00001847" "90" "1937" "1" "1937" "1" "c.1937+1G>A" "r.spl" "p.?" ""
"0000937762" "00001847" "50" "1645" "0" "1645" "0" "c.1645G>A" "r.(?)" "p.(Ala549Thr)" ""
"0000937763" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(5461_5714del,5461_5584del)" "p.(Thr1821Aspfs*6,Thr1821Valfs*13)" ""
"0000937764" "00001847" "70" "67" "-1" "67" "-1" "c.67-1G>C" "r.spl" "p.?" ""
"0000937765" "00001847" "90" "4222" "0" "4222" "0" "c.4222T>C" "r.(?)" "p.(Trp1408Arg)" ""
"0000937766" "00001847" "70" "710" "0" "710" "0" "c.710T>C" "r.(?)" "p.(Leu237Pro)" ""
"0000937767" "00001847" "50" "6005" "2" "6005" "2" "c.6005+2T>A" "r.spl" "p.?" ""
"0000937768" "00001847" "50" "5371" "0" "5371" "0" "c.5371G>A" "r.(?)" "p.(Ala1791Thr)" ""
"0000937769" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" ""
"0000937770" "00001847" "70" "688" "0" "688" "0" "c.688T>G" "r.(?)" "p.(Cys230Gly)" ""
"0000937771" "00001847" "90" "3261" "0" "3261" "0" "c.3261A>C" "r.(?)" "p.(Glu1087Asp)" ""
"0000937772" "00001847" "90" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" ""
"0000937773" "00001847" "50" "2893" "0" "2893" "0" "c.2893A>C" "r.(?)" "p.(Asn965His)" ""
"0000937774" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.(2588g>c,2588_2590del)" "p.(Gly863Ala,Gly863del)" ""
"0000937775" "00001847" "90" "1086" "0" "1086" "0" "c.1086T>A" "r.(?)" "p.(Tyr362Ter)" ""
"0000937776" "00001847" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Ter)" ""
"0000937777" "00001847" "90" "4069" "0" "4069" "0" "c.4069G>A" "r.(?)" "p.(Ala1357Thr)" ""
"0000937778" "00001847" "90" "4222" "0" "4222" "0" "c.4222T>C" "r.(?)" "p.(Trp1408Arg)" ""
"0000937779" "00001847" "90" "5646" "0" "5646" "0" "c.5646G>A" "r.(?)" "p.(Met1882Ile)" ""
"0000937780" "00001847" "90" "686" "0" "686" "0" "c.686T>C" "r.(?)" "p.(Leu229Pro)" ""
"0000937781" "00001847" "90" "5762" "0" "5763" "0" "c.5762_5763dup" "r.(?)" "p.(Ala1922TrpfsTer18)" ""
"0000937782" "00001847" "90" "4200" "0" "4200" "0" "c.4200C>A" "r.(?)" "p.(Tyr1400Ter)" ""
"0000937783" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" ""
"0000937784" "00001847" "90" "4537" "0" "4537" "0" "c.4537dup" "r.(spl?)" "p.(Gln1513ProfsTer42)" ""
"0000937785" "00001847" "50" "3173" "0" "3189" "0" "c.3173_3189delinsGTTGT" "r.spl?" "p.(Glu1058_Ser1063delinsGlyCys,?)" ""
"0000937786" "00001847" "70" "4670" "0" "4670" "0" "c.4670A>G" "r.(spl?)" "p.(Tyr1557Cys)" ""
"0000937787" "00001847" "90" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973Ter)" ""
"0000937788" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.(=,5585_5714del)" "p.(Glu1863Leufs*33,=)" ""
"0000937789" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" ""
"0000937790" "00001847" "90" "1086" "0" "1086" "0" "c.1086T>A" "r.(?)" "p.(Tyr362Ter)" ""
"0000937791" "00001847" "90" "2564" "0" "2564" "0" "c.2564G>A" "r.(?)" "p.(Trp855Ter)" ""
"0000937792" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000937793" "00001847" "90" "2626" "0" "2626" "0" "c.2626C>T" "r.(?)" "p.(Gln876Ter)" ""
"0000937794" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000937795" "00001847" "90" "1239" "1" "1239" "1" "c.1239+1G>A" "r.spl" "p.?" ""
"0000937796" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000937797" "00001847" "70" "868" "0" "868" "0" "c.868C>T" "r.(?)" "p.(Arg290Trp)" ""
"0000937798" "00001847" "50" "656" "0" "656" "0" "c.656G>C" "r.(?)" "p.(Arg219Thr)" ""
"0000937799" "00001847" "90" "3056" "0" "3056" "0" "c.3056C>T" "r.(?)" "p.(Thr1019Met)" ""
"0000937800" "00001847" "50" "3215" "0" "3215" "0" "c.3215T>C" "r.(?)" "p.(Val1072Ala)" ""
"0000937801" "00001847" "90" "3874" "0" "3874" "0" "c.3874C>T" "r.(?)" "p.(Gln1292Ter)" ""
"0000937802" "00001847" "90" "4224" "0" "4224" "0" "c.4224G>A" "r.(?)" "p.(Trp1408Ter)" ""
"0000937803" "00001847" "70" "4670" "0" "4670" "0" "c.4670A>G" "r.(spl?)" "p.(Tyr1557Cys)" ""
"0000937804" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" ""
"0000937805" "00001847" "50" "2257" "0" "2257" "0" "c.2257A>C" "r.(?)" "p.(Thr753Pro)" ""
"0000937806" "00001847" "30" "667" "0" "667" "0" "c.667A>C" "r.(?)" "p.(Lys223Gln)" ""
"0000937807" "00001847" "90" "4462" "0" "4462" "0" "c.4462T>C" "r.(?)" "p.(Cys1488Arg)" ""
"0000937808" "00001847" "90" "2691" "0" "2691" "0" "c.2691del" "r.(?)" "p.(Glu898SerfsTer3)" ""
"0000937809" "00001847" "50" "4966" "0" "4966" "0" "c.4966G>T" "r.(?)" "p.(Val1656Phe)" ""
"0000937810" "00001847" "90" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071CysfsTer14)" ""
"0000937811" "00001847" "90" "3898" "0" "3898" "0" "c.3898C>T" "r.(?)" "p.(Arg1300Ter)" ""
"0000937812" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.(=,5585_5714del)" "p.(Glu1863Leufs*33,=)" ""
"0000937813" "00001847" "90" "4253" "5" "4253" "5" "c.4253+5G>A" "r.4129_4253del" "p.(Ile1377Hisfs*3)" ""
"0000937814" "00001847" "90" "5762" "0" "5763" "0" "c.5762_5763dup" "r.(?)" "p.(Ala1922TrpfsTer18)" ""
"0000937815" "00001847" "50" "3995" "0" "4018" "0" "c.3995_4018dup" "r.(?)" "p.(Gln1332_Cys1339dup)" ""
"0000937816" "00001847" "90" "885" "0" "885" "0" "c.885del" "r.(?)" "p.(Leu296CysfsTer4)" ""
"0000937817" "00001847" "90" "179" "0" "179" "0" "c.179C>T" "r.(?)" "p.(Ala60Val)" ""
"0000937818" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" ""
"0000937819" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" ""
"0000937820" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" ""
"0000937821" "00001847" "90" "2041" "0" "2041" "0" "c.2041C>T" "r.(?)" "p.(Arg681Ter)" ""
"0000937822" "00001847" "50" "4685" "0" "4685" "0" "c.4685T>C" "r.(?)" "p.(Ile1562Thr)" ""
"0000937823" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" ""
"0000937824" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" ""
"0000937825" "00001847" "90" "1609" "0" "1609" "0" "c.1609C>T" "r.(?)" "p.(Arg537Cys)" ""
"0000937826" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000937827" "00001847" "70" "5644" "0" "5644" "0" "c.5644A>G" "r.(?)" "p.(Met1882Val)" ""
"0000937828" "00001847" "50" "1648" "0" "1659" "0" "c.1648_1659del" "r.(?)" "p.(Gly550_Phe553del)" ""
"0000937829" "00001847" "90" "4539" "2064" "4539" "2064" "c.4539+2064C>T" "r.(=,4539_4540ins4539+1891_4540-2162)" "p.(=,Arg1514Leufs*36)" ""
"0000937830" "00001847" "50" "1760" "0" "1760" "0" "c.1760G>T" "r.spl?" "p.(Arg587Met,?)" ""
"0000937831" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" ""
"0000937832" "00001847" "70" "3064" "0" "3064" "0" "c.3064G>A" "r.(?)" "p.(Glu1022Lys)" ""
"0000937833" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" ""
"0000937834" "00001847" "90" "571" "-1" "571" "-1" "c.571-1G>T" "r.spl" "p.?" ""
"0000937835" "00001847" "90" "4070" "0" "4070" "0" "c.4070C>T" "r.(?)" "p.(Ala1357Val)" ""
"0000937836" "00001847" "90" "2971" "0" "2971" "0" "c.2971G>C" "r.(?)" "p.(Gly991Arg)" ""
"0000937837" "00001847" "90" "6385" "0" "6385" "0" "c.6385A>G" "r.6340_6386del" "p.(Val2114Hisfs*4)" ""
"0000937838" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000937839" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.(2588g>c,2588_2590del)" "p.(Gly863Ala,Gly863del)" ""
"0000937840" "00001847" "70" "3311" "0" "3311" "0" "c.3311T>C" "r.(?)" "p.(Leu1104Pro)" ""
"0000937841" "00001847" "90" "2401" "0" "2401" "0" "c.2401G>A" "r.(?)" "p.(Ala801Thr)" ""
"0000937842" "00001847" "70" "2383" "-1" "2587" "1" "c.(2382+1_2383-1)_(2587+1_2588-1)del" "r.?" "p.?" "15i_16i"
"0000937843" "00001847" "90" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071CysfsTer14)" ""
"0000937844" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" ""
"0000937845" "00001847" "90" "1903" "0" "1903" "0" "c.1903C>T" "r.(?)" "p.(Gln635Ter)" ""
"0000937846" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000937847" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" ""
"0000937848" "00001847" "70" "3329" "-1" "3329" "-1" "c.3329-1G>A" "r.spl" "p.?" ""
"0000937849" "00001847" "50" "1211" "0" "1211" "0" "c.1211C>T" "r.(?)" "p.(Ser404Leu)" ""
"0000937850" "00001847" "50" "5836" "-6" "5842" "0" "c.5836-6_5842del" "r.spl?" "p.(Ile1946Alafs*25,?)" ""
"0000937851" "00001847" "50" "3277" "0" "3277" "0" "c.3277G>C" "r.(?)" "p.(Asp1093His)" ""
"0000937852" "00001847" "70" "710" "0" "710" "0" "c.710T>C" "r.(?)" "p.(Leu237Pro)" ""
"0000937853" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" ""
"0000937854" "00001847" "90" "1957" "0" "1957" "0" "c.1957C>T" "r.(?)" "p.(Arg653Cys)" ""
"0000937855" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" ""
"0000937856" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.(2588g>c,2588_2590del)" "p.(Gly863Ala,Gly863del)" ""
"0000937857" "00001847" "90" "5018" "2" "5018" "2" "c.5018+2T>C" "r.spl" "p.?" ""
"0000937858" "00001847" "50" "2650" "0" "2650" "0" "c.2650G>A" "r.(?)" "p.(Glu884Lys)" ""
"0000937859" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000937860" "00001847" "90" "6229" "0" "6229" "0" "c.6229C>T" "r.(?)" "p.(Arg2077Trp)" ""
"0000937861" "00001847" "90" "318" "0" "318" "0" "c.318T>G" "r.(?)" "p.(Tyr106Ter)" ""
"0000937862" "00001847" "90" "1648" "0" "1648" "0" "c.1648G>T" "r.(?)" "p.(Gly550Ter)" ""
"0000937863" "00001847" "90" "686" "0" "686" "0" "c.686T>C" "r.(?)" "p.(Leu229Pro)" ""
"0000937864" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" ""
"0000937865" "00001847" "90" "1015" "0" "1015" "0" "c.1015T>G" "r.(?)" "p.(Trp339Gly)" ""
"0000937866" "00001847" "90" "6238" "0" "6239" "0" "c.6238_6239del" "r.(?)" "p.(Ser2080HisfsTer16)" ""
"0000937867" "00001847" "90" "3522" "1" "3522" "1" "c.3522+1G>A" "r.spl" "p.?" ""
"0000937868" "00001847" "90" "2041" "0" "2041" "0" "c.2041C>T" "r.(?)" "p.(Arg681Ter)" ""
"0000937869" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" ""
"0000937870" "00001847" "90" "4457" "0" "4457" "0" "c.4457C>T" "r.(?)" "p.(Pro1486Leu)" ""
"0000937871" "00001847" "90" "1714" "0" "1714" "0" "c.1714C>T" "r.(?)" "p.(Arg572Ter)" ""
"0000937872" "00001847" "50" "6809" "0" "6816" "10" "c.6809_6816+10del" "r.spl" "p.(Gln2270Argfs*72,?)" ""
"0000937873" "00001847" "90" "2966" "0" "2966" "0" "c.2966T>C" "r.(?)" "p.(Val989Ala)" ""
"0000937874" "00001847" "90" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071CysfsTer14)" ""
"0000937875" "00001847" "50" "3617" "0" "3617" "0" "c.3617del" "r.(?)" "p.(Asn1206MetfsTer3)" ""
"0000937876" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.(2588g>c,2588_2590del)" "p.(Gly863Ala,Gly863del)" ""
"0000937877" "00001847" "90" "1819" "0" "1819" "0" "c.1819G>C" "r.(?)" "p.(Gly607Arg)" ""
"0000937878" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" ""
"0000937879" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000937880" "00001847" "90" "4234" "0" "4234" "0" "c.4234C>T" "r.(?)" "p.(Gln1412Ter)" ""
"0000937881" "00001847" "90" "735" "0" "735" "0" "c.735T>G" "r.(?)" "p.(Tyr245Ter)" ""
"0000937882" "00001847" "90" "2023" "0" "2023" "0" "c.2023G>A" "r.(?)" "p.(Val675Ile)" ""
"0000937883" "00001847" "50" "4633" "0" "4633" "0" "c.4633A>G" "r.spl?" "p.(Ser1545Gly,?)" ""
"0000937884" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000937885" "00001847" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Ter)" ""
"0000937886" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" ""
"0000937887" "00001847" "90" "5172" "0" "5172" "0" "c.5172G>A" "r.(?)" "p.(Trp1724Ter)" ""
"0000937888" "00001847" "90" "3056" "0" "3056" "0" "c.3056C>T" "r.(?)" "p.(Thr1019Met)" ""
"0000937889" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000937890" "00001847" "90" "1086" "0" "1086" "0" "c.1086T>A" "r.(?)" "p.(Tyr362Ter)" ""
"0000937891" "00001847" "90" "179" "0" "179" "0" "c.179C>T" "r.(?)" "p.(Ala60Val)" ""
"0000937892" "00001847" "70" "3329" "-1" "3329" "-1" "c.3329-1G>A" "r.spl" "p.?" ""
"0000937893" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" ""
"0000937894" "00001847" "90" "2300" "0" "2300" "0" "c.2300T>A" "r.(?)" "p.(Val767Asp)" ""
"0000937895" "00001847" "90" "4352" "1" "4352" "1" "c.4352+1G>A" "r.spl" "p.?" ""
"0000937896" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" ""
"0000937897" "00001847" "90" "2023" "0" "2023" "0" "c.2023G>A" "r.(?)" "p.(Val675Ile)" ""
"0000937898" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.(2588g>c,2588_2590del)" "p.(Gly863Ala,Gly863del)" ""
"0000937899" "00001847" "90" "2971" "0" "2971" "0" "c.2971G>C" "r.(?)" "p.(Gly991Arg)" ""
"0000937900" "00001847" "90" "6088" "0" "6088" "0" "c.6088C>T" "r.(?)" "p.(Arg2030Ter)" ""
"0000937901" "00001847" "90" "2785" "0" "2785" "0" "c.2785dup" "r.(?)" "p.(Val929GlyfsTer11)" ""
"0000937902" "00001847" "90" "1714" "0" "1714" "0" "c.1714C>T" "r.(?)" "p.(Arg572Ter)" ""
"0000937903" "00001847" "90" "2099" "0" "2099" "0" "c.2099G>A" "r.(?)" "p.(Trp700Ter)" ""
"0000937904" "00001847" "90" "1086" "0" "1086" "0" "c.1086T>A" "r.(?)" "p.(Tyr362Ter)" ""
"0000937905" "00001847" "90" "5929" "0" "5929" "0" "c.5929G>A" "r.(?)" "p.(Gly1977Ser)" ""
"0000937906" "00001847" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Ter)" ""
"0000937907" "00001847" "90" "2587" "2" "2587" "2" "c.2587+2T>C" "r.spl" "p.?" ""
"0000937908" "00001847" "70" "3814" "-2" "3814" "-2" "c.3814-2A>G" "r.spl" "p.?" ""
"0000937909" "00001847" "50" "671" "0" "671" "0" "c.671C>T" "r.(?)" "p.(Thr224Met)" ""
"0000937910" "00001847" "90" "2971" "0" "2971" "0" "c.2971G>C" "r.(?)" "p.(Gly991Arg)" ""
"0000937911" "00001847" "50" "3485" "0" "3485" "0" "c.3485del" "r.(?)" "p.(Lys1162ArgfsTer2)" ""
"0000937912" "00001847" "50" "570" "2" "570" "8" "c.570+2_570+8del" "r.spl" "p.?" ""
"0000937913" "00001847" "90" "571" "-2" "571" "-2" "c.571-2A>G" "r.spl" "p.?" ""
"0000937914" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" ""
"0000937915" "00001847" "50" "5585" "-1" "5585" "-1" "c.5585-1G>T" "r.spl" "p.?" ""
"0000937916" "00001847" "90" "4919" "0" "4919" "0" "c.4919G>A" "r.(?)" "p.(Arg1640Gln)" ""
"0000937917" "00001847" "90" "3085" "0" "3085" "0" "c.3085C>T" "r.(?)" "p.(Gln1029Ter)" ""
"0000937918" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" ""
"0000937919" "00001847" "50" "5019" "-5" "5019" "-5" "c.5019-5T>A" "r.spl" "p.?" ""
"0000937920" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" ""
"0000937921" "00001847" "90" "2169" "0" "2172" "0" "c.2169_2172dup" "r.(?)" "p.(Leu725AsnfsTer42)" ""
"0000937922" "00001847" "90" "4919" "0" "4919" "0" "c.4919G>A" "r.(?)" "p.(Arg1640Gln)" ""
"0000937923" "00001847" "90" "655" "0" "655" "0" "c.655A>T" "r.(?)" "p.(Arg219Ter)" ""
"0000937924" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.(2588g>c,2588_2590del)" "p.(Gly863Ala,Gly863del)" ""
"0000937925" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(5461_5714del,5461_5584del)" "p.(Thr1821Aspfs*6,Thr1821Valfs*13)" ""
"0000937926" "00001847" "90" "5888" "0" "5888" "0" "c.5888del" "r.(?)" "p.(Arg1963ProfsTer11)" ""
"0000937927" "00001847" "90" "1015" "0" "1015" "0" "c.1015T>G" "r.(?)" "p.(Trp339Gly)" ""
"0000937928" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000937929" "00001847" "90" "2971" "0" "2971" "0" "c.2971G>C" "r.(?)" "p.(Gly991Arg)" ""
"0000937930" "00001847" "50" "3331" "0" "3331" "0" "c.3331A>G" "r.(?)" "p.(Arg1111Gly)" ""
"0000937931" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" ""
"0000937932" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" ""
"0000937933" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" ""
"0000937934" "00001847" "50" "193" "0" "193" "0" "c.193G>A" "r.(?)" "p.(Gly65Arg)" ""
"0000937935" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.(=,5585_5714del)" "p.(Glu1863Leufs*33,=)" ""
"0000937936" "00001847" "90" "4793" "0" "4793" "0" "c.4793C>A" "r.(?)" "p.(Ala1598Asp)" ""
"0000937937" "00001847" "50" "2617" "0" "2617" "0" "c.2617T>A" "r.(?)" "p.(Phe873Ile)" ""
"0000937938" "00001847" "70" "2791" "0" "2791" "0" "c.2791G>A" "r.(?)" "p.(Val931Met)" ""
"0000937939" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" ""
"0000937940" "00001847" "90" "32" "0" "32" "0" "c.32T>C" "r.(?)" "p.(Leu11Pro)" ""
"0000937941" "00001847" "70" "3064" "0" "3064" "0" "c.3064G>A" "r.(?)" "p.(Glu1022Lys)" ""
"0000937942" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" ""
"0000937943" "00001847" "50" "5069" "0" "5069" "0" "c.5069T>G" "r.(?)" "p.(Met1690Arg)" ""
"0000937944" "00001847" "50" "855" "0" "855" "0" "c.855del" "r.(?)" "p.(Glu286SerfsTer14)" ""
"0000937945" "00001847" "90" "1025" "0" "1038" "0" "c.1025_1038del" "r.(?)" "p.(Asp342GlyfsTer6)" ""
"0000937946" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" ""
"0000937947" "00001847" "90" "4253" "4" "4253" "4" "c.4253+4C>T" "r.4129_4253del" "p.(Ile1377Hisfs*3)" ""
"0000937948" "00001847" "90" "1957" "0" "1957" "0" "c.1957C>T" "r.(?)" "p.(Arg653Cys)" ""
"0000937949" "00001847" "70" "1852" "0" "1852" "0" "c.1852G>A" "r.(?)" "p.(Gly618Arg)" ""
"0000937950" "00001847" "90" "4539" "2064" "4539" "2064" "c.4539+2064C>T" "r.(=,4539_4540ins4539+1891_4540-2162)" "p.(=,Arg1514Leufs*36)" ""
"0000937951" "00001847" "90" "194" "0" "194" "0" "c.194G>A" "r.(?)" "p.(Gly65Glu)" ""
"0000937952" "00001847" "70" "1519" "0" "1519" "0" "c.1519G>T" "r.(?)" "p.(Asp507Tyr)" ""
"0000937953" "00001847" "90" "666" "0" "678" "0" "c.666_678del" "r.(?)" "p.(Lys223MetfsTer14)" ""
"0000937954" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" ""
"0000937955" "00001847" "70" "3311" "0" "3311" "0" "c.3311T>C" "r.(?)" "p.(Leu1104Pro)" ""
"0000937956" "00001847" "70" "2609" "0" "2609" "0" "c.2609C>T" "r.(?)" "p.(Pro870Leu)" ""
"0000937957" "00001847" "90" "1239" "1" "1239" "1" "c.1239+1G>A" "r.spl" "p.?" ""
"0000937958" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000937959" "00001847" "90" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071CysfsTer14)" ""
"0000937960" "00001847" "90" "1819" "0" "1819" "0" "c.1819G>C" "r.(?)" "p.(Gly607Arg)" ""
"0000937961" "00001847" "90" "5762" "0" "5763" "0" "c.5762_5763dup" "r.(?)" "p.(Ala1922TrpfsTer18)" ""
"0000937962" "00001847" "90" "2966" "0" "2966" "0" "c.2966T>C" "r.(?)" "p.(Val989Ala)" ""
"0000937963" "00001847" "90" "1015" "0" "1015" "0" "c.1015T>G" "r.(?)" "p.(Trp339Gly)" ""
"0000937964" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" ""
"0000937965" "00001847" "50" "3813" "0" "3813" "0" "c.3813G>T" "r.spl?" "p.(Glu1271Asp,?)" ""
"0000937966" "00001847" "90" "1937" "1" "1937" "1" "c.1937+1G>A" "r.spl" "p.?" ""
"0000937967" "00001847" "90" "4793" "0" "4793" "0" "c.4793C>A" "r.(?)" "p.(Ala1598Asp)" ""
"0000937968" "00001847" "90" "3808" "0" "3808" "0" "c.3808G>T" "r.(?)" "p.(Glu1270Ter)" ""
"0000937969" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(5461_5714del,5461_5584del)" "p.(Thr1821Aspfs*6,Thr1821Valfs*13)" ""
"0000937970" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" ""
"0000937971" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" ""
"0000937972" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.(2588g>c,2588_2590del)" "p.(Gly863Ala,Gly863del)" ""
"0000937973" "00001847" "90" "4919" "0" "4919" "0" "c.4919G>A" "r.(?)" "p.(Arg1640Gln)" ""
"0000937974" "00001847" "50" "3272" "0" "3272" "0" "c.3272G>T" "r.(?)" "p.(Gly1091Val)" ""
"0000937975" "00001847" "90" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973Ter)" ""
"0000937976" "00001847" "50" "5642" "0" "5642" "0" "c.5642C>T" "r.(?)" "p.(Ala1881Val)" ""
"0000937977" "00001847" "90" "4457" "0" "4457" "0" "c.4457C>T" "r.(?)" "p.(Pro1486Leu)" ""
"0000937978" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(5461_5714del,5461_5584del)" "p.(Thr1821Aspfs*6,Thr1821Valfs*13)" ""
"0000937979" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" ""
"0000937980" "00001847" "70" "6286" "0" "6286" "0" "c.6286G>A" "r.(?)" "p.(Glu2096Lys)" ""
"0000937981" "00001847" "90" "4070" "0" "4070" "0" "c.4070C>T" "r.(?)" "p.(Ala1357Val)" ""
"0000937982" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" ""
"0000937983" "00001847" "90" "735" "0" "735" "0" "c.735T>G" "r.(?)" "p.(Tyr245Ter)" ""
"0000937984" "00001847" "90" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071CysfsTer14)" ""
"0000937985" "00001847" "90" "1819" "0" "1819" "0" "c.1819G>C" "r.(?)" "p.(Gly607Arg)" ""
"0000937986" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" ""
"0000937987" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" ""
"0000937988" "00001847" "50" "4253" "43" "4253" "43" "c.4253+43G>A" "r.(=,4129_4253del)" "p.(=,Ile1377Hisfs*3)" ""
"0000937989" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.(=,5585_5714del)" "p.(Glu1863Leufs*33,=)" ""
"0000937990" "00001847" "50" "2878" "0" "2878" "0" "c.2878G>T" "r.(?)" "p.(Ala960Ser)" ""
"0000937991" "00001847" "70" "2609" "0" "2609" "0" "c.2609C>T" "r.(?)" "p.(Pro870Leu)" ""
"0000937992" "00001847" "70" "5549" "0" "5549" "0" "c.5549T>C" "r.(?)" "p.(Leu1850Pro)" ""
"0000937993" "00001847" "50" "4966" "0" "4966" "0" "c.4966G>T" "r.(?)" "p.(Val1656Phe)" ""
"0000937994" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000937995" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" ""
"0000937996" "00001847" "50" "1481" "0" "1481" "0" "c.1481T>C" "r.(?)" "p.(Met494Thr)" ""
"0000937997" "00001847" "90" "3970" "0" "3970" "0" "c.3970del" "r.(?)" "p.(Ala1324ArgfsTer65)" ""
"0000937998" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" ""
"0000937999" "00001847" "50" "571" "-1" "768" "1" "c.(570+1_571-1)_(768+1_769-1)del" "r.?" "p.?" "5i_6i"
"0000938000" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" ""
"0000938001" "00001847" "50" "2123" "0" "2123" "0" "c.2123T>C" "r.(?)" "p.(Met708Thr)" ""
"0000938002" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000938003" "00001847" "90" "2300" "0" "2300" "0" "c.2300T>A" "r.(?)" "p.(Val767Asp)" ""
"0000938004" "00001847" "50" "5620" "0" "5620" "0" "c.5620del" "r.(?)" "p.(Leu1874Ter)" ""
"0000938005" "00001847" "90" "4919" "0" "4919" "0" "c.4919G>A" "r.(?)" "p.(Arg1640Gln)" ""
"0000938006" "00001847" "90" "2564" "0" "2564" "0" "c.2564G>A" "r.(?)" "p.(Trp855Ter)" ""
"0000938007" "00001847" "50" "5065" "0" "5065" "0" "c.5065T>C" "r.(?)" "p.(Ser1689Pro)" ""
"0000938008" "00001847" "90" "2971" "0" "2971" "0" "c.2971G>C" "r.(?)" "p.(Gly991Arg)" ""
"0000938009" "00001847" "90" "4919" "0" "4919" "0" "c.4919G>A" "r.(?)" "p.(Arg1640Gln)" ""
"0000938010" "00001847" "90" "1015" "0" "1015" "0" "c.1015T>G" "r.(?)" "p.(Trp339Gly)" ""
"0000938011" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" ""
"0000938012" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" ""
"0000938013" "00001847" "70" "160" "0" "160" "0" "c.160T>G" "r.spl?" "p.(Cys54Gly,?)" ""
"0000938014" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" ""
"0000938015" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000938016" "00001847" "50" "1554" "5" "1554" "5" "c.1554+5G>A" "r.spl" "p.?" ""
"0000938017" "00001847" "90" "2971" "0" "2971" "0" "c.2971G>C" "r.(?)" "p.(Gly991Arg)" ""
"0000938018" "00001847" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Ter)" ""
"0000938019" "00001847" "50" "2909" "0" "2909" "0" "c.2909C>T" "r.(?)" "p.(Thr970Ile)" ""
"0000938020" "00001847" "50" "2065" "0" "2065" "0" "c.2065C>T" "r.(?)" "p.(Gln689Ter)" ""
"0000938021" "00001847" "90" "2768" "0" "2768" "0" "c.2768del" "r.(?)" "p.(Pro923GlnfsTer9)" ""
"0000938022" "00001847" "50" "452" "0" "452" "0" "c.452T>C" "r.(?)" "p.(Ile151Thr)" ""
"0000938023" "00001847" "90" "203" "0" "203" "0" "c.203C>T" "r.(?)" "p.(Pro68Leu)" ""
"0000938024" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" ""
"0000938025" "00001847" "50" "677" "0" "677" "0" "c.677G>T" "r.(?)" "p.(Arg226Leu)" ""
"0000938026" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" ""
"0000938027" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" ""
"0000938028" "00001847" "50" "5006" "0" "5006" "0" "c.5006C>G" "r.(?)" "p.(Ser1669Ter)" ""
"0000938029" "00001847" "70" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" ""
"0000938030" "00001847" "90" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071CysfsTer14)" ""
"0000938031" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" ""
"0000938032" "00001847" "90" "1017" "0" "1017" "0" "c.1017G>A" "r.(?)" "p.(Trp339Ter)" ""
"0000938033" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" ""
"0000938034" "00001847" "50" "1204" "0" "1204" "0" "c.1204C>T" "r.(?)" "p.(Pro402Ser)" ""
"0000938035" "00001847" "50" "1648" "0" "1659" "0" "c.1648_1659del" "r.(?)" "p.(Gly550_Phe553del)" ""
"0000938036" "00001847" "50" "1481" "0" "1481" "0" "c.1481T>C" "r.(?)" "p.(Met494Thr)" ""
"0000938037" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.(2588g>c,2588_2590del)" "p.(Gly863Ala,Gly863del)" ""
"0000938038" "00001847" "90" "1015" "0" "1015" "0" "c.1015T>G" "r.(?)" "p.(Trp339Gly)" ""
"0000938039" "00001847" "70" "1749" "0" "1749" "0" "c.1749G>C" "r.(?)" "p.(Lys583Asn)" ""
"0000938040" "00001847" "90" "2966" "0" "2966" "0" "c.2966T>C" "r.(?)" "p.(Val989Ala)" ""
"0000938041" "00001847" "90" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" ""
"0000938042" "00001847" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Ter)" ""
"0000938043" "00001847" "50" "1481" "0" "1481" "0" "c.1481T>C" "r.(?)" "p.(Met494Thr)" ""
"0000938044" "00001847" "90" "735" "0" "735" "0" "c.735T>G" "r.(?)" "p.(Tyr245Ter)" ""
"0000938045" "00001847" "90" "5313" "-2" "5313" "-2" "c.5313-2del" "r.spl" "p.?" ""
"0000938046" "00001847" "50" "5905" "0" "5905" "0" "c.5905G>A" "r.(?)" "p.(Gly1969Ser)" ""
"0000938047" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.(2588g>c,2588_2590del)" "p.(Gly863Ala,Gly863del)" ""
"0000938048" "00001847" "90" "6088" "0" "6088" "0" "c.6088C>T" "r.(?)" "p.(Arg2030Ter)" ""
"0000938049" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.(=,5585_5714del)" "p.(Glu1863Leufs*33,=)" ""
"0000938050" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000938051" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000938052" "00001847" "90" "5381" "0" "5381" "0" "c.5381C>A" "r.(?)" "p.(Ala1794Asp)" ""
"0000938053" "00001847" "90" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973Ter)" ""
"0000938054" "00001847" "90" "6658" "0" "6658" "0" "c.6658C>T" "r.(?)" "p.(Gln2220Ter)" ""
"0000938055" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000938056" "00001847" "90" "5044" "0" "5058" "0" "c.5044_5058del" "r.(?)" "p.(Val1682_Val1686del)" ""
"0000938057" "00001847" "90" "5929" "0" "5929" "0" "c.5929G>A" "r.(?)" "p.(Gly1977Ser)" ""
"0000938058" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000938059" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000938060" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000938061" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000938062" "00001847" "90" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" ""
"0000938063" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000938064" "00001847" "90" "4352" "1" "4352" "1" "c.4352+1G>A" "r.spl" "p.?" ""
"0000938065" "00001847" "50" "3734" "0" "3741" "0" "c.3734_3741del" "r.(?)" "p.(Ser1245LysfsTer9)" ""
"0000938066" "00001847" "90" "4539" "2064" "4539" "2064" "c.4539+2064C>T" "r.(=,4539_4540ins4539+1891_4540-2162)" "p.(=,Arg1514Leufs*36)" ""
"0000938067" "00001847" "90" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973Ter)" ""
"0000938068" "00001847" "90" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" ""
"0000938069" "00001847" "50" "4750" "0" "4762" "0" "c.4750_4762del" "r.(?)" "p.(Gly1584MetfsTer2)" ""
"0000938070" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000938071" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.(2588g>c,2588_2590del)" "p.(Gly863Ala,Gly863del)" ""
"0000938072" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000938073" "00001847" "70" "6326" "0" "6326" "0" "c.6326T>C" "r.(?)" "p.(Leu2109Pro)" ""
"0000938074" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000938075" "00001847" "90" "5044" "0" "5058" "0" "c.5044_5058del" "r.(?)" "p.(Val1682_Val1686del)" ""
"0000938076" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.(=,5585_5714del)" "p.(Glu1863Leufs*33,=)" ""
"0000938077" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000938078" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000938079" "00001847" "90" "5044" "0" "5058" "0" "c.5044_5058del" "r.(?)" "p.(Val1682_Val1686del)" ""
"0000938080" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.(=,5585_5714del)" "p.(Glu1863Leufs*33,=)" ""
"0000938081" "00001847" "50" "4529" "0" "4529" "0" "c.4529C>T" "r.(?)" "p.(Pro1510Leu)" ""
"0000938082" "00001847" "50" "6040" "0" "6040" "0" "c.6040A>G" "r.(?)" "p.(Met2014Val)" ""
"0000938083" "00001847" "70" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" ""
"0000938084" "00001847" "70" "3352" "0" "3352" "0" "c.3352C>T" "r.(?)" "p.(His1118Tyr)" ""
"0000938085" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000938086" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000938087" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000938088" "00001847" "90" "4253" "4" "4253" "4" "c.4253+4C>T" "r.4129_4253del" "p.(Ile1377Hisfs*3)" ""
"0000938089" "00001847" "70" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" ""
"0000938090" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" ""
"0000938091" "00001847" "70" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" ""
"0000938092" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.(2588g>c,2588_2590del)" "p.(Gly863Ala,Gly863del)" ""
"0000938093" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000938094" "00001847" "90" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.(=,5196_5197ins5196+1140_5196+1212)" "p.(=,Met1733Glufs*78)" ""
"0000938095" "00001847" "90" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.(=,5196_5197ins5196+1140_5196+1212)" "p.(=,Met1733Glufs*78)" ""
"0000938096" "00001847" "50" "4681" "0" "4681" "0" "c.4681T>C" "r.(?)" "p.(Ser1561Pro)" ""
"0000938097" "00001847" "90" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" ""
"0000938098" "00001847" "30" "5715" "-5" "5715" "-5" "c.5715-5T>C" "r.spl" "p.?" ""
"0000938099" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.(2588g>c,2588_2590del)" "p.(Gly863Ala,Gly863del)" ""
"0000938100" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000938101" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(5461_5714del,5461_5584del)" "p.(Thr1821Aspfs*6,Thr1821Valfs*13)" ""
"0000938102" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000938103" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000938105" "00001847" "90" "4222" "0" "4222" "0" "c.4222T>C" "r.(?)" "p.(Trp1408Arg)" ""
"0000938106" "00001847" "90" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" ""
"0000938107" "00001847" "50" "4253" "43" "4253" "43" "c.4253+43G>A" "r.(=,4129_4253del)" "p.(=,Ile1377Hisfs*3)" ""
"0000938108" "00001847" "70" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" ""
"0000938109" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000938110" "00001847" "90" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" ""
"0000938111" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000938112" "00001847" "50" "5363" "0" "5363" "0" "c.5363C>T" "r.(?)" "p.(Pro1788Leu)" ""
"0000938113" "00001847" "70" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" ""
"0000938114" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" ""
"0000938115" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" ""
"0000938116" "00001847" "70" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" ""
"0000938117" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" ""
"0000938118" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000938119" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000938120" "00001847" "90" "6445" "0" "6445" "0" "c.6445C>T" "r.(?)" "p.(Arg2149Ter)" ""
"0000938121" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000938122" "00001847" "90" "5929" "0" "5929" "0" "c.5929G>A" "r.(?)" "p.(Gly1977Ser)" ""
"0000938123" "00001847" "90" "5892" "0" "5892" "0" "c.5892del" "r.(?)" "p.(Gly1965GlufsTer9)" ""
"0000938124" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000938125" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000938126" "00001847" "90" "6386" "2" "6386" "2" "c.6386+2C>G" "r.spl" "p.?" ""
"0000938127" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" ""
"0000938128" "00001847" "50" "3589" "0" "3602" "0" "c.3589_3602dup" "r.(?)" "p.(Asp1202GlnfsTer9)" ""
"0000938129" "00001847" "90" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973Ter)" ""
"0000938130" "00001847" "90" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" ""
"0000938131" "00001847" "50" "4685" "0" "4685" "0" "c.4685T>C" "r.(?)" "p.(Ile1562Thr)" ""
"0000938132" "00001847" "50" "6534" "0" "6534" "0" "c.6534del" "r.(?)" "p.(Leu2179PhefsTer4)" ""
"0000938133" "00001847" "90" "3898" "0" "3898" "0" "c.3898C>T" "r.(?)" "p.(Arg1300Ter)" ""
"0000938135" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000938136" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.(2588g>c,2588_2590del)" "p.(Gly863Ala,Gly863del)" ""
"0000938137" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000938138" "00001847" "50" "4685" "0" "4685" "0" "c.4685T>C" "r.(?)" "p.(Ile1562Thr)" ""
"0000938139" "00001847" "70" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" ""
"0000938140" "00001847" "90" "3813" "0" "3813" "0" "c.3813G>C" "r.3608_3813del" "p.(Gly1203Aspfs*10)" ""
"0000938141" "00001847" "70" "4875" "0" "4875" "0" "c.4875T>A" "r.(?)" "p.(His1625Gln)" ""
"0000938142" "00001847" "50" "6094" "0" "6094" "0" "c.6094C>T" "r.(?)" "p.(His2032Tyr)" ""
"0000938143" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" ""
"0000938144" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000938145" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000938146" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000938147" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000938148" "00001847" "90" "4539" "2064" "4539" "2064" "c.4539+2064C>T" "r.(=,4539_4540ins4539+1891_4540-2162)" "p.(=,Arg1514Leufs*36)" ""
"0000938149" "00001847" "90" "1819" "0" "1819" "0" "c.1819G>A" "r.(?)" "p.(Gly607Arg)" ""
"0000938150" "00001847" "70" "2791" "0" "2791" "0" "c.2791G>A" "r.(?)" "p.(Val931Met)" ""
"0000938151" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000938152" "00001847" "90" "2971" "0" "2971" "0" "c.2971G>C" "r.(?)" "p.(Gly991Arg)" ""
"0000938153" "00001847" "70" "5644" "0" "5644" "0" "c.5644A>G" "r.(?)" "p.(Met1882Val)" ""
"0000938154" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000938155" "00001847" "90" "4919" "0" "4919" "0" "c.4919G>A" "r.(?)" "p.(Arg1640Gln)" ""
"0000938156" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000938157" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000938158" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(5461_5714del,5461_5584del)" "p.(Thr1821Aspfs*6,Thr1821Valfs*13)" ""
"0000938160" "00001847" "90" "6005" "1" "6005" "1" "c.6005+1del" "r.spl" "p.?" ""
"0000938161" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000938164" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000938165" "00001847" "90" "6098" "0" "6098" "0" "c.6098T>G" "r.(?)" "p.(Leu2033Arg)" ""
"0000938166" "00001847" "90" "3994" "0" "3994" "0" "c.3994C>T" "r.(?)" "p.(Gln1332Ter)" ""
"0000938167" "00001847" "90" "3994" "0" "3994" "0" "c.3994C>T" "r.(?)" "p.(Gln1332Ter)" ""
"0000938168" "00001847" "90" "6088" "0" "6088" "0" "c.6088C>T" "r.(?)" "p.(Arg2030Ter)" ""
"0000938169" "00001847" "50" "5560" "0" "5560" "0" "c.5560G>T" "r.(?)" "p.(Val1854Leu)" ""
"0000938170" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000938171" "00001847" "90" "6385" "0" "6385" "0" "c.6385A>G" "r.6340_6386del" "p.(Val2114Hisfs*4)" ""
"0000938172" "00001847" "90" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.(=,5196_5197ins5196+1140_5196+1212)" "p.(=,Met1733Glyfs*78)" ""
"0000938173" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.(2588g>c,2588_2590del)" "p.(Gly863Ala,Gly863del)" ""
"0000938174" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000938175" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(5461_5714del,5461_5584del)" "p.(Thr1821Aspfs*6,Thr1821Valfs*13)" ""
"0000938176" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000938177" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" ""
"0000938178" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" ""
"0000938179" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" ""
"0000938180" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000938181" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000938183" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" ""
"0000938184" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000938185" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000938186" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000938187" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000938188" "00001847" "90" "3871" "0" "3871" "0" "c.3871C>T" "r.(?)" "p.(Gln1291Ter)" ""
"0000938189" "00001847" "90" "2023" "0" "2023" "0" "c.2023G>A" "r.(?)" "p.(Val675Ile)" ""
"0000938190" "00001847" "90" "1015" "0" "1015" "0" "c.1015T>G" "r.(?)" "p.(Trp339Gly)" ""
"0000938191" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000938192" "00001847" "50" "5056" "0" "5056" "0" "c.5056G>A" "r.(?)" "p.(Val1686Met)" ""
"0000938193" "00001847" "70" "6220" "0" "6220" "0" "c.6220G>A" "r.(?)" "p.(Gly2074Ser)" ""
"0000938194" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(5461_5714del,5461_5584del)" "p.(Thr1821Aspfs*6,Thr1821Valfs*13)" ""
"0000938196" "00001847" "90" "6098" "0" "6098" "0" "c.6098T>G" "r.(?)" "p.(Leu2033Arg)" ""
"0000938197" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000938198" "00001847" "90" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" ""
"0000938199" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000938200" "00001847" "50" "5936" "0" "5936" "0" "c.5936C>A" "r.(?)" "p.(Thr1979Lys)" ""
"0000938201" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000938202" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000938203" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000938204" "00001847" "90" "3966" "0" "3966" "0" "c.3966del" "r.(?)" "p.(Ala1324ArgfsTer65)" ""
"0000938206" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000938207" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000938208" "00001847" "90" "3323" "0" "3323" "0" "c.3323G>A" "r.(?)" "p.(Arg1108His)" ""
"0000938210" "00001847" "90" "2971" "0" "2971" "0" "c.2971G>C" "r.(?)" "p.(Gly991Arg)" ""
"0000938211" "00001847" "50" "4696" "0" "4696" "0" "c.4696C>T" "r.(?)" "p.(Leu1566Phe)" ""
"0000938212" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000938214" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000938216" "00001847" "50" "5643" "0" "5643" "0" "c.5643del" "r.(?)" "p.(Met1882TrpfsTer11)" ""
"0000938217" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000938218" "00001847" "50" "5560" "0" "5560" "0" "c.5560G>T" "r.(?)" "p.(Val1854Leu)" ""
"0000938219" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000938220" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000938222" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000938223" "00001847" "90" "6545" "0" "6580" "0" "c.6545_6580del" "r.(?)" "p.(Leu2182_Phe2193del)" ""
"0000938224" "00001847" "50" "2494" "0" "2494" "0" "c.2494G>T" "r.(?)" "p.(Asp832Tyr)" ""
"0000938225" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000938226" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" ""
"0000938227" "00001847" "90" "6445" "0" "6445" "0" "c.6445C>T" "r.(?)" "p.(Arg2149Ter)" ""
"0000938228" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000938229" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.(=,5585_5714del)" "p.(Glu1863Leufs*33,=)" ""
"0000938230" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000938231" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(5461_5714del,5461_5584del)" "p.(Thr1821Aspfs*6,Thr1821Valfs*13)" ""
"0000938232" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000938233" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000938234" "00001847" "70" "2791" "0" "2791" "0" "c.2791G>A" "r.(?)" "p.(Val931Met)" ""
"0000938235" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000938237" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" ""
"0000938238" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000938239" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" ""
"0000938240" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000938241" "00001847" "90" "5929" "0" "5929" "0" "c.5929G>A" "r.(?)" "p.(Gly1977Ser)" ""
"0000938242" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000938243" "00001847" "90" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" ""
"0000938244" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000938245" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(5461_5714del,5461_5584del)" "p.(Thr1821Aspfs*6,Thr1821Valfs*13)" ""
"0000938246" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000938247" "00001847" "70" "3329" "-1" "3329" "-1" "c.3329-1G>A" "r.spl" "p.?" ""
"0000938248" "00001847" "50" "1841" "0" "1841" "0" "c.1841T>C" "r.(?)" "p.(Met614Thr)" ""
"0000938249" "00001847" "90" "6118" "0" "6118" "0" "c.6118C>T" "r.(?)" "p.(Arg2040Ter)" ""
"0000938250" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000938253" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" ""
"0000938254" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.(=,5585_5714del)" "p.(Glu1863Leufs*33,=)" ""
"0000938255" "00001847" "30" "4503" "0" "4503" "0" "c.4503G>C" "r.(?)" "p.(Glu1501Asp)" ""
"0000938256" "00001847" "70" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" ""
"0000938257" "00001847" "90" "5461" "-1" "5461" "-1" "c.5461-1G>T" "r.spl" "p.?" ""
"0000938258" "00001847" "90" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071CysfsTer14)" ""
"0000938259" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000938260" "00001847" "90" "3970" "0" "3970" "0" "c.3970del" "r.(?)" "p.(Ala1324ArgfsTer65)" ""
"0000938261" "00001847" "90" "1819" "0" "1819" "0" "c.1819G>A" "r.(?)" "p.(Gly607Arg)" ""
"0000938262" "00001847" "90" "4462" "0" "4462" "0" "c.4462T>C" "r.(?)" "p.(Cys1488Arg)" ""
"0000938263" "00001847" "90" "1819" "0" "1819" "0" "c.1819G>A" "r.(?)" "p.(Gly607Arg)" ""
"0000938264" "00001847" "90" "4462" "0" "4462" "0" "c.4462T>C" "r.(?)" "p.(Cys1488Arg)" ""
"0000938265" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000938266" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000938267" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000938268" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000938269" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000938270" "00001847" "90" "4793" "0" "4793" "0" "c.4793C>A" "r.(?)" "p.(Ala1598Asp)" ""
"0000938271" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000938272" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000938273" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000938274" "00001847" "90" "1343" "0" "1343" "0" "c.1343T>A" "r.(?)" "p.(Met448Lys)" ""
"0000938275" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000938276" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000938277" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(5461_5714del,5461_5584del)" "p.(Thr1821Aspfs*6,Thr1821Valfs*13)" ""
"0000938280" "00001847" "70" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" ""
"0000938281" "00001847" "70" "4849" "0" "4849" "0" "c.4849G>A" "r.(4849_5018del,4849_5109del,=)" "p.(Val1617Alafs*113,Val1617Met)" ""
"0000938282" "00001847" "50" "5836" "-1" "6147" "1" "c.(5835+1_5836-1)_(6147+1_6148-1)del" "r.?" "p.?" "41i_44i"
"0000938283" "00001847" "30" "4503" "0" "4503" "0" "c.4503G>C" "r.(?)" "p.(Glu1501Asp)" ""
"0000938284" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" ""
"0000938285" "00001847" "70" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" ""
"0000938286" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000938287" "00001847" "70" "4352" "5" "4352" "5" "c.4352+5G>A" "r.spl" "p.?" ""
"0000938288" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000938289" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000938290" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" ""
"0000938292" "00001847" "50" "823" "0" "823" "0" "c.823G>T" "r.(?)" "p.(Gly275Ter)" ""
"0000938294" "00001847" "70" "926" "0" "926" "0" "c.926C>G" "r.(?)" "p.(Pro309Arg)" ""
"0000938296" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.(=,5585_5714del)" "p.(Glu1863Leufs*33,=)" ""
"0000938298" "00001847" "70" "2566" "0" "2566" "0" "c.2566T>A" "r.(?)" "p.(Tyr856Asn)" ""
"0000938299" "00001847" "70" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" ""
"0000938300" "00001847" "90" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" ""
"0000938301" "00001847" "50" "5069" "0" "5069" "0" "c.5069T>G" "r.(?)" "p.(Met1690Arg)" ""
"0000938302" "00001847" "90" "6229" "0" "6229" "0" "c.6229C>T" "r.(?)" "p.(Arg2077Trp)" ""
"0000938303" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000938304" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000938305" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000938306" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000938308" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000938309" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000938310" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000938311" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000938312" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000938313" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000938314" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000938315" "00001847" "70" "3064" "0" "3064" "0" "c.3064G>A" "r.(?)" "p.(Glu1022Lys)" ""
"0000938316" "00001847" "90" "5044" "0" "5058" "0" "c.5044_5058del" "r.(?)" "p.(Val1682_Val1686del)" ""
"0000938319" "00001847" "70" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" ""
"0000938320" "00001847" "70" "5881" "0" "5881" "0" "c.5881G>A" "r.(?)" "p.(Gly1961Arg)" ""
"0000938322" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000938323" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000938324" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" ""
"0000938325" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000938326" "00001847" "90" "6107" "0" "6107" "0" "c.6107A>G" "r.(?)" "p.(Tyr2036Cys)" ""
"0000938327" "00001847" "90" "3970" "0" "3970" "0" "c.3970del" "r.(?)" "p.(Ala1324ArgfsTer65)" ""
"0000938328" "00001847" "50" "4254" "-1" "4773" "1" "c.(4253+1_4254-1)_(4773+1_4774-1)del" "r.?" "p.?" "28i_33i"
"0000938329" "00001847" "30" "3602" "0" "3602" "0" "c.3602T>G" "r.(?)" "p.(Leu1201Arg)" ""
"0000938330" "00001847" "50" "5621" "0" "5621" "0" "c.5621T>C" "r.(?)" "p.(Leu1874Pro)" ""
"0000938331" "00001847" "50" "3560" "0" "3560" "0" "c.3560C>T" "r.(?)" "p.(Thr1187Met)" ""
"0000938332" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000938333" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000938334" "00001847" "70" "4179" "0" "4179" "0" "c.4179del" "r.(?)" "p.(Ile1394SerfsTer10)" ""
"0000938335" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.(=,5585_5714del)" "p.(Glu1863Leufs*33,=)" ""
"0000938336" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(5461_5714del,5461_5584del)" "p.(Thr1821Aspfs*6,Thr1821Valfs*13)" ""
"0000938337" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000938338" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" ""
"0000938339" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000938340" "00001847" "90" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973Ter)" ""
"0000938341" "00001847" "50" "4129" "-11" "4129" "-11" "c.4129-11T>G" "r.spl" "p.?" ""
"0000938342" "00001847" "70" "6110" "0" "6110" "0" "c.6110C>A" "r.(?)" "p.(Ala2037Asp)" ""
"0000938343" "00001847" "70" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" ""
"0000938344" "00001847" "90" "5461" "-1" "5461" "-1" "c.5461-1G>T" "r.spl" "p.?" ""
"0000938345" "00001847" "50" "5908" "0" "5908" "0" "c.5908C>T" "r.(?)" "p.(Leu1970Phe)" ""
"0000938346" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000938347" "00001847" "90" "6088" "0" "6088" "0" "c.6088C>T" "r.(?)" "p.(Arg2030Ter)" ""
"0000938348" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.(=,5585_5714del)" "p.(Glu1863Leufs*33,=)" ""
"0000938349" "00001847" "90" "5381" "0" "5381" "0" "c.5381C>A" "r.(?)" "p.(Ala1794Asp)" ""
"0000938350" "00001847" "90" "5929" "0" "5929" "0" "c.5929G>A" "r.(?)" "p.(Gly1977Ser)" ""
"0000938351" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(5461_5714del,5461_5584del)" "p.(Thr1821Aspfs*6,Thr1821Valfs*13)" ""
"0000938352" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000938353" "00001847" "90" "5381" "0" "5381" "0" "c.5381C>A" "r.(?)" "p.(Ala1794Asp)" ""
"0000938354" "00001847" "90" "6386" "2" "6386" "2" "c.6386+2C>G" "r.spl" "p.?" ""
"0000938355" "00001847" "90" "4316" "0" "4316" "0" "c.4316G>A" "r.(?)" "p.(Gly1439Asp)" ""
"0000938356" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000938357" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000938358" "00001847" "50" "5342" "0" "5342" "0" "c.5342C>A" "r.(?)" "p.(Ala1781Glu)" ""
"0000938359" "00001847" "90" "6410" "0" "6410" "0" "c.6410G>A" "r.(?)" "p.(Cys2137Tyr)" ""
"0000938360" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000938361" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000938362" "00001847" "50" "2911" "0" "2911" "0" "c.2911del" "r.(?)" "p.(Thr971ProfsTer6)" ""
"0000938363" "00001847" "90" "3813" "0" "3813" "0" "c.3813G>C" "r.3608_3813del" "p.(Gly1203Aspfs*10)" ""
"0000938364" "00001847" "90" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" ""
"0000938365" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000938366" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(5461_5714del,5461_5584del)" "p.(Thr1821Aspfs*6,Thr1821Valfs*13)" ""
"0000938367" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000938368" "00001847" "90" "4316" "0" "4316" "0" "c.4316G>A" "r.(?)" "p.(Gly1439Asp)" ""
"0000938369" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000938370" "00001847" "50" "4129" "-3" "4129" "-3" "c.4129-3C>A" "r.spl" "p.?" ""
"0000938371" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000938372" "00001847" "50" "5580" "0" "5580" "0" "c.5580del" "r.(?)" "p.(Phe1861LeufsTer14)" ""
"0000938373" "00001847" "90" "5892" "0" "5892" "0" "c.5892del" "r.(?)" "p.(Gly1965GlufsTer9)" ""
"0000938374" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000938375" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000938376" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000938377" "00001847" "90" "2966" "0" "2966" "0" "c.2966T>C" "r.(?)" "p.(Val989Ala)" ""
"0000938379" "00001847" "90" "1015" "0" "1015" "0" "c.1015T>G" "r.(?)" "p.(Trp339Gly)" ""
"0000938380" "00001847" "70" "6287" "0" "6287" "0" "c.6287A>G" "r.(?)" "p.(Glu2096Gly)" ""
"0000938381" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000938382" "00001847" "90" "5761" "0" "5761" "0" "c.5761G>A" "r.(?)" "p.(Val1921Met)" ""
"0000938383" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" ""
"0000938384" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000938385" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000938386" "00001847" "90" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" ""
"0000938387" "00001847" "90" "5381" "0" "5381" "0" "c.5381C>A" "r.(?)" "p.(Ala1794Asp)" ""
"0000938388" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000938389" "00001847" "70" "6721" "0" "6721" "0" "c.6721C>G" "r.(?)" "p.(Leu2241Val)" ""
"0000938390" "00001847" "90" "5044" "0" "5058" "0" "c.5044_5058del" "r.(?)" "p.(Val1682_Val1686del)" ""
"0000938391" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000938392" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000938393" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000938394" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000938395" "00001847" "90" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" ""
"0000938396" "00001847" "50" "4773" "0" "4773" "0" "c.4773G>A" "r.spl?" "p.?" ""
"0000938397" "00001847" "90" "4066" "0" "4066" "0" "c.4066C>T" "r.(?)" "p.(Gln1356Ter)" ""
"0000938398" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000938399" "00001847" "50" "6044" "0" "6044" "0" "c.6044G>A" "r.(?)" "p.(Gly2015Asp)" ""
"0000938400" "00001847" "90" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" ""
"0000938401" "00001847" "90" "3292" "0" "3292" "0" "c.3292C>T" "r.(?)" "p.(Arg1098Cys)" ""
"0000938402" "00001847" "90" "3607" "0" "3607" "0" "c.3607G>A" "r.(3523_3607del)" "p.(Thr1176Metfs*2)" ""
"0000938403" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000938404" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.(=,5585_5714del)" "p.(Glu1863Leufs*33,=)" ""
"0000938405" "00001847" "70" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" ""
"0000938406" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(5461_5714del,5461_5584del)" "p.(Thr1821Aspfs*6,Thr1821Valfs*13)" ""
"0000938407" "00001847" "90" "6112" "0" "6112" "0" "c.6112C>T" "r.(?)" "p.(Arg2038Trp)" ""
"0000938408" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000938409" "00001847" "50" "5288" "0" "5288" "0" "c.5288T>C" "r.(?)" "p.(Leu1763Pro)" ""
"0000938410" "00001847" "30" "4503" "0" "4503" "0" "c.4503G>C" "r.(?)" "p.(Glu1501Asp)" ""
"0000938411" "00001847" "90" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" ""
"0000938412" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000938413" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000938414" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(5461_5714del,5461_5584del)" "p.(Thr1821Aspfs*6,Thr1821Valfs*13)" ""
"0000938416" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000938419" "00001847" "70" "4849" "0" "4849" "0" "c.4849G>A" "r.(4849_5018del,4849_5109del,=)" "p.(Val1617Alafs*113,Val1617Met)" ""
"0000938420" "00001847" "90" "859" "-9" "859" "-9" "c.859-9T>C" "r.(=,859_1356del)" "p.(=,Phe287_Arg452del)" ""
"0000938421" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000938422" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000938424" "00001847" "70" "4352" "5" "4352" "5" "c.4352+5G>A" "r.spl" "p.?" ""
"0000938426" "00001847" "90" "1015" "0" "1015" "0" "c.1015T>G" "r.(?)" "p.(Trp339Gly)" ""
"0000938427" "00001847" "90" "3364" "0" "3364" "0" "c.3364G>A" "r.(?)" "p.(Glu1122Lys)" ""
"0000938428" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000938429" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000938430" "00001847" "90" "1891" "0" "1891" "0" "c.1891G>A" "r.(?)" "p.(Gly631Arg)" ""
"0000938431" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000938432" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000938437" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000938438" "00001847" "70" "868" "0" "868" "0" "c.868C>T" "r.(?)" "p.(Arg290Trp)" ""
"0000938439" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000938440" "00001847" "70" "4926" "0" "4926" "0" "c.4926C>G" "r.(?)" "p.(Ser1642Arg)" ""
"0000938441" "00001847" "90" "5044" "0" "5058" "0" "c.5044_5058del" "r.(?)" "p.(Val1682_Val1686del)" ""
"0000938442" "00001847" "90" "3682" "0" "3682" "0" "c.3682G>T" "r.(?)" "p.(Glu1228Ter)" ""
"0000938443" "00001847" "90" "3292" "0" "3292" "0" "c.3292C>T" "r.(?)" "p.(Arg1098Cys)" ""
"0000938444" "00001847" "70" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" ""
"0000938445" "00001847" "90" "4539" "2064" "4539" "2064" "c.4539+2064C>T" "r.(=,4539_4540ins4539+1891_4540-2162)" "p.(=,Arg1514Leufs*36)" ""
"0000938446" "00001847" "50" "5921" "0" "5921" "0" "c.5921A>G" "r.(?)" "p.(Asn1974Ser)" ""
"0000938447" "00001847" "90" "2345" "0" "2345" "0" "c.2345G>A" "r.(?)" "p.(Trp782Ter)" ""
"0000938448" "00001847" "50" "5177" "0" "5177" "0" "c.5177C>A" "r.(?)" "p.(Thr1726Asn)" ""
"0000938449" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000938450" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000938451" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000938452" "00001847" "90" "5689" "0" "5689" "0" "c.5689C>T" "r.(?)" "p.(Gln1897Ter)" ""
"0000938453" "00001847" "90" "4539" "2064" "4539" "2064" "c.4539+2064C>T" "r.(=,4539_4540ins4539+1891_4540-2162)" "p.(=,Arg1514Leufs*36)" ""
"0000938455" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000938456" "00001847" "90" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" ""
"0000938457" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000938458" "00001847" "90" "5929" "0" "5929" "0" "c.5929G>A" "r.(?)" "p.(Gly1977Ser)" ""
"0000938459" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" ""
"0000938460" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000938461" "00001847" "90" "4546" "0" "4547" "0" "c.4546_4547del" "r.(?)" "p.(Gln1516AlafsTer38)" ""
"0000938462" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000938463" "00001847" "50" "5560" "0" "5560" "0" "c.5560G>T" "r.(?)" "p.(Val1854Leu)" ""
"0000938465" "00001847" "90" "6385" "0" "6385" "0" "c.6385A>G" "r.6340_6386del" "p.(Val2114Hisfs*4)" ""
"0000938466" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000938467" "00001847" "90" "6658" "0" "6658" "0" "c.6658C>T" "r.(?)" "p.(Gln2220Ter)" ""
"0000938468" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000938469" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000938470" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000938471" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000938472" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000938473" "00001847" "90" "4537" "0" "4537" "0" "c.4537dup" "r.(spl?)" "p.(Gln1513ProfsTer42)" ""
"0000938474" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000938475" "00001847" "90" "5196" "1" "5196" "1" "c.5196+1G>A" "r.spl" "p.?" ""
"0000938477" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000938478" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" ""
"0000938479" "00001847" "90" "6415" "0" "6415" "0" "c.6415C>T" "r.(?)" "p.(Arg2139Trp)" ""
"0000938480" "00001847" "90" "6107" "0" "6107" "0" "c.6107A>G" "r.(?)" "p.(Tyr2036Cys)" ""
"0000938481" "00001847" "70" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" ""
"0000938482" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000938485" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000938486" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" ""
"0000938487" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.(=,5585_5714del)" "p.(Glu1863Leufs*33,=)" ""
"0000938492" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000938493" "00001847" "70" "4539" "1106" "4539" "1106" "c.4539+1106C>T" "r.(4539_4540ins4539+1033_4539+1100,4539_4540ins4539+989_4539+1100)" "p.(Arg1514Glyfs*3,Arg1514Valfs*31)" ""
"0000938494" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(5461_5714del,5461_5584del)" "p.(Thr1821Aspfs*6,Thr1821Valfs*13)" ""
"0000938495" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000938496" "00001847" "50" "4900" "0" "4900" "0" "c.4900G>T" "r.(?)" "p.(Ala1634Ser)" ""
"0000938497" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000938498" "00001847" "90" "6118" "0" "6118" "0" "c.6118C>T" "r.(?)" "p.(Arg2040Ter)" ""
"0000938499" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000938500" "00001847" "90" "4070" "0" "4070" "0" "c.4070C>T" "r.(?)" "p.(Ala1357Val)" ""
"0000938501" "00001847" "90" "6107" "0" "6107" "0" "c.6107A>G" "r.(?)" "p.(Tyr2036Cys)" ""
"0000938502" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000938505" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000938506" "00001847" "90" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071CysfsTer14)" ""
"0000938507" "00001847" "50" "3647" "0" "3647" "0" "c.3647T>G" "r.(?)" "p.(Val1216Gly)" ""
"0000938508" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000938509" "00001847" "50" "3113" "0" "3113" "0" "c.3113C>A" "r.(?)" "p.(Ala1038Asp)" ""
"0000938510" "00001847" "90" "3832" "0" "3832" "0" "c.3832G>T" "r.(?)" "p.(Glu1278Ter)" ""
"0000938511" "00001847" "90" "2966" "0" "2966" "0" "c.2966T>C" "r.(?)" "p.(Val989Ala)" ""
"0000938512" "00001847" "50" "3374" "0" "3374" "0" "c.3374T>C" "r.(?)" "p.(Leu1125Pro)" ""
"0000938514" "00001847" "90" "5929" "0" "5929" "0" "c.5929G>A" "r.(?)" "p.(Gly1977Ser)" ""
"0000938515" "00001847" "50" "2653" "1" "2653" "1" "c.2653+1G>A" "r.spl" "p.?" ""
"0000938516" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000938517" "00001847" "90" "4234" "0" "4234" "0" "c.4234C>T" "r.(?)" "p.(Gln1412Ter)" ""
"0000938518" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000938519" "00001847" "70" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" ""
"0000938520" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000938521" "00001847" "90" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.(=,5196_5197ins5196+1140_5196+1212)" "p.(=,Met1733Glufs*78)" ""
"0000938522" "00001847" "90" "1819" "0" "1819" "0" "c.1819G>A" "r.(?)" "p.(Gly607Arg)" ""
"0000938523" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000938524" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000938525" "00001847" "70" "6220" "0" "6220" "0" "c.6220G>A" "r.(?)" "p.(Gly2074Ser)" ""
"0000938526" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000938527" "00001847" "90" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" ""
"0000938528" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000938529" "00001847" "90" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973Ter)" ""
"0000938530" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000938531" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(5461_5714del,5461_5584del)" "p.(Thr1821Aspfs*6,Thr1821Valfs*13)" ""
"0000938532" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000938533" "00001847" "50" "4892" "0" "4892" "0" "c.4892T>C" "r.(?)" "p.(Leu1631Pro)" ""
"0000938534" "00001847" "90" "6385" "0" "6385" "0" "c.6385A>G" "r.6340_6386del" "p.(Val2114Hisfs*4)" ""
"0000938535" "00001847" "70" "5311" "0" "5311" "0" "c.5311G>A" "r.spl?" "p.(Gly1771Arg,?)" ""
"0000938536" "00001847" "90" "286" "0" "286" "0" "c.286A>G" "r.(?)" "p.(Asn96Asp)" ""
"0000938537" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(5461_5714del,5461_5584del)" "p.(Thr1821Aspfs*6,Thr1821Valfs*13)" ""
"0000938538" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000938539" "00001847" "90" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" ""
"0000938540" "00001847" "50" "4253" "43" "4253" "43" "c.4253+43G>A" "r.(=,4129_4253del)" "p.(=,Ile1377Hisfs*3)" ""
"0000938541" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000938542" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000938543" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.(=,5585_5714del)" "p.(Glu1863Leufs*33,=)" ""
"0000938544" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000938545" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000938546" "00001847" "90" "6816" "1" "6816" "1" "c.6816+1G>T" "r.spl" "p.?" ""
"0000938547" "00001847" "70" "6220" "0" "6220" "0" "c.6220G>A" "r.(?)" "p.(Gly2074Ser)" ""
"0000938548" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000938549" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000938550" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000938551" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.(2588g>c,2588_2590del)" "p.(Gly863Ala,Gly863del)" ""
"0000938552" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000938553" "00001847" "70" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" ""
"0000938554" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000938555" "00001847" "50" "2007" "0" "2007" "0" "c.2007G>C" "r.(?)" "p.(Met669Ile)" ""
"0000938556" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000938557" "00001847" "90" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" ""
"0000938558" "00001847" "70" "4179" "0" "4179" "0" "c.4179del" "r.(?)" "p.(Ile1394SerfsTer10)" ""
"0000938559" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000938560" "00001847" "50" "2564" "0" "2564" "0" "c.2564G>A" "r.(?)" "p.(Trp855Ter)" ""
"0000938561" "00001847" "90" "4793" "0" "4793" "0" "c.4793C>A" "r.(?)" "p.(Ala1598Asp)" ""
"0000938562" "00001847" "90" "3323" "0" "3323" "0" "c.3323G>A" "r.(?)" "p.(Arg1108His)" ""
"0000938563" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000938564" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000938565" "00001847" "50" "3289" "0" "3289" "0" "c.3289A>G" "r.(?)" "p.(Arg1097Gly)" ""
"0000938566" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000938567" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" ""
"0000938568" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000938569" "00001847" "50" "5606" "0" "5606" "0" "c.5606A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000938570" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000938571" "00001847" "90" "5898" "1" "5898" "1" "c.5898+1G>A" "r.spl" "p.?" ""
"0000938572" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" ""
"0000938573" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000938574" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.(=,5585_5714del)" "p.(Glu1863Leufs*33,=)" ""
"0000938575" "00001847" "90" "3056" "0" "3056" "0" "c.3056C>T" "r.(?)" "p.(Thr1019Met)" ""
"0000938576" "00001847" "50" "4667" "3" "4667" "3" "c.4667+3A>C" "r.spl" "p.?" ""
"0000938577" "00001847" "50" "4667" "3" "4667" "3" "c.4667+3A>C" "r.spl" "p.?" ""
"0000938578" "00001847" "50" "5620" "0" "5620" "0" "c.5620del" "r.(?)" "p.(Leu1874Ter)" ""
"0000938579" "00001847" "90" "3970" "0" "3970" "0" "c.3970del" "r.(?)" "p.(Ala1324ArgfsTer65)" ""
"0000938580" "00001847" "70" "5527" "0" "5527" "0" "c.5527C>T" "r.(?)" "p.(Arg1843Trp)" ""
"0000938581" "00001847" "90" "3259" "0" "3259" "0" "c.3259G>A" "r.(?)" "p.(Glu1087Lys)" ""
"0000938582" "00001847" "90" "3259" "0" "3259" "0" "c.3259G>A" "r.(?)" "p.(Glu1087Lys)" ""
"0000938583" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.(=,5585_5714del)" "p.(Glu1863Leufs*33,=)" ""
"0000938584" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000938585" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000938586" "00001847" "90" "5381" "0" "5381" "0" "c.5381C>A" "r.(?)" "p.(Ala1794Asp)" ""
"0000938587" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.(=,5585_5714del)" "p.(Glu1863Leufs*33,=)" ""
"0000938588" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000938589" "00001847" "50" "4685" "0" "4685" "0" "c.4685T>C" "r.(?)" "p.(Ile1562Thr)" ""
"0000938590" "00001847" "50" "6534" "0" "6534" "0" "c.6534del" "r.(?)" "p.(Leu2179PhefsTer4)" ""
"0000938591" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.(=,5585_5714del)" "p.(Glu1863Leufs*33,=)" ""
"0000938592" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000938593" "00001847" "90" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" ""
"0000938594" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000938595" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000938596" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000938597" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000938598" "00001847" "90" "6658" "0" "6658" "0" "c.6658C>T" "r.(?)" "p.(Gln2220Ter)" ""
"0000938599" "00001847" "90" "2564" "0" "2564" "0" "c.2564G>A" "r.(?)" "p.(Trp855Ter)" ""
"0000938600" "00001847" "90" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" ""
"0000938601" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000938602" "00001847" "70" "1253" "0" "1253" "0" "c.1253T>C" "r.(?)" "p.(Phe418Ser)" ""
"0000938603" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.(=,5585_5714del)" "p.(Glu1863Leufs*33,=)" ""
"0000938604" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000938605" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000938606" "00001847" "50" "3079" "0" "3079" "0" "c.3079T>C" "r.(?)" "p.(Tyr1027His)" ""
"0000938607" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000938608" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" ""
"0000938609" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000938610" "00001847" "90" "6005" "1" "6005" "1" "c.6005+1del" "r.spl" "p.?" ""
"0000938611" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000938612" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000938613" "00001847" "70" "5384" "0" "5384" "0" "c.5384T>C" "r.(?)" "p.(Leu1795Ser)" ""
"0000938614" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(5461_5714del,5461_5584del)" "p.(Thr1821Aspfs*6,Thr1821Valfs*13)" ""
"0000938615" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000938616" "00001847" "90" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.(=,5196_5197ins5196+1140_5196+1212)" "p.(=,Met1733Glufs*78)" ""
"0000938617" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000938618" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000938619" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000938620" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000938621" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" ""
"0000938622" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.(2588g>c,2588_2590del)" "p.(Gly863Ala,Gly863del)" ""
"0000938623" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000938624" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000938625" "00001847" "90" "6088" "0" "6088" "0" "c.6088C>T" "r.(?)" "p.(Arg2030Ter)" ""
"0000938626" "00001847" "50" "2291" "0" "2291" "0" "c.2291G>A" "r.(?)" "p.(Cys764Tyr)" ""
"0000938627" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000938628" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(5461_5714del,5461_5584del)" "p.(Thr1821Aspfs*6,Thr1821Valfs*13)" ""
"0000938629" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000938630" "00001847" "70" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" ""
"0000938631" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" ""
"0000938632" "00001847" "50" "4253" "43" "4253" "43" "c.4253+43G>A" "r.(=,4129_4253del)" "p.(=,Ile1377Hisfs*3)" ""
"0000938633" "00001847" "90" "6316" "0" "6316" "0" "c.6316C>T" "r.(?)" "p.(Arg2106Cys)" ""
"0000938634" "00001847" "70" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" ""
"0000938635" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000938636" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000938637" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(5461_5714del,5461_5584del)" "p.(Thr1821Aspfs*6,Thr1821Valfs*13)" ""
"0000938638" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000938639" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000938640" "00001847" "50" "3617" "0" "3617" "0" "c.3617del" "r.(?)" "p.(Asn1206MetfsTer3)" ""
"0000938641" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000938642" "00001847" "50" "4129" "-3" "4129" "-3" "c.4129-3C>A" "r.spl" "p.?" ""
"0000938643" "00001847" "50" "2647" "0" "2647" "0" "c.2647G>A" "r.(?)" "p.(Gly883Ser)" ""
"0000938644" "00001847" "50" "3344" "0" "3344" "0" "c.3344T>C" "r.(?)" "p.(Met1115Thr)" ""
"0000938645" "00001847" "90" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973Ter)" ""
"0000938646" "00001847" "50" "3758" "0" "3758" "0" "c.3758C>T" "r.(?)" "p.(Thr1253Met)" ""
"0000938647" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000938648" "00001847" "90" "4539" "2064" "4539" "2064" "c.4539+2064C>T" "r.(=,4539_4540ins4539+1891_4540-2162)" "p.(=,Arg1514Leufs*36)" ""
"0000938649" "00001847" "90" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973Ter)" ""
"0000938650" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000938651" "00001847" "90" "4253" "5" "4253" "5" "c.4253+5G>A" "r.4129_4253del" "p.(Ile1377Hisfs*3)" ""
"0000938652" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000938653" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000938654" "00001847" "70" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" ""
"0000938655" "00001847" "90" "4102" "0" "4102" "0" "c.4102C>T" "r.(?)" "p.(Arg1368Cys)" ""
"0000938656" "00001847" "70" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" ""
"0000938657" "00001847" "50" "4540" "-1" "4634" "1" "c.(4539+1_4540-1)_(4634+1_4635-1)del" "r.?" "p.?" "30i_31i"
"0000938658" "00001847" "90" "1015" "0" "1015" "0" "c.1015T>G" "r.(?)" "p.(Trp339Gly)" ""
"0000938659" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000938660" "00001847" "90" "6449" "0" "6449" "0" "c.6449G>A" "r.(?)" "p.(Cys2150Tyr)" ""
"0000938661" "00001847" "90" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" ""
"0000938662" "00001847" "50" "4253" "43" "4253" "43" "c.4253+43G>A" "r.(=,4129_4253del)" "p.(=,Ile1377Hisfs*3)" ""
"0000938663" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000938664" "00001847" "90" "3292" "0" "3292" "0" "c.3292C>T" "r.(?)" "p.(Arg1098Cys)" ""
"0000938665" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000938666" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000938667" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000938668" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000938669" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000938670" "00001847" "90" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" ""
"0000938671" "00001847" "50" "2174" "0" "2174" "0" "c.2174T>C" "r.(?)" "p.(Leu725Pro)" ""
"0000938672" "00001847" "90" "4880" "0" "4880" "0" "c.4880del" "r.(?)" "p.(Leu1627ArgfsTer35)" ""
"0000938673" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000938674" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.(=,5585_5714del)" "p.(Glu1863Leufs*33,=)" ""
"0000938675" "00001847" "70" "5512" "0" "5512" "0" "c.5512C>G" "r.(?)" "p.(His1838Asp)" ""
"0000938676" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.(2588g>c,2588_2590del)" "p.(Gly863Ala,Gly863del)" ""
"0000938677" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000938678" "00001847" "50" "6512" "0" "6512" "0" "c.6512T>G" "r.(?)" "p.(Ile2171Ser)" ""
"0000938679" "00001847" "90" "4919" "0" "4919" "0" "c.4919G>A" "r.(?)" "p.(Arg1640Gln)" ""
"0000938680" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000938681" "00001847" "50" "4353" "-1" "4539" "1" "c.(4352+1_4353-1)_(4539+1_4540-1)del" "r.?" "p.?" "29i_30i"
"0000938682" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.(2588g>c,2588_2590del)" "p.(Gly863Ala,Gly863del)" ""
"0000938683" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000938684" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" ""
"0000938685" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" ""
"0000938686" "00001847" "90" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973Ter)" ""
"0000938687" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000938688" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000938689" "00001847" "50" "" "0" "" "0" "c.(3328+1_3523-1)_*400{0}" "r.?" "p.?" "22i_50_"
"0000938690" "00001847" "90" "6215" "0" "6215" "0" "c.6215G>A" "r.(?)" "p.(Ser2072Asn)" ""
"0000938691" "00001847" "70" "1034" "0" "1034" "0" "c.1034A>G" "r.(?)" "p.(Tyr345Cys)" ""
"0000938692" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000938693" "00001847" "50" "3289" "0" "3289" "0" "c.3289A>G" "r.(?)" "p.(Arg1097Gly)" ""
"0000938694" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000938695" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" ""
"0000938696" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000938697" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000938698" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.(=,5585_5714del)" "p.(Glu1863Leufs*33,=)" ""
"0000938699" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" ""
"0000938700" "00001847" "90" "4667" "1" "4667" "1" "c.4667+1G>A" "r.spl" "p.?" ""
"0000938701" "00001847" "90" "6215" "0" "6215" "0" "c.6215G>A" "r.(?)" "p.(Ser2072Asn)" ""
"0000938702" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000938703" "00001847" "90" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" ""
"0000938704" "00001847" "90" "6229" "0" "6229" "0" "c.6229C>T" "r.(?)" "p.(Arg2077Trp)" ""
"0000938705" "00001847" "90" "1819" "0" "1819" "0" "c.1819G>A" "r.(?)" "p.(Gly607Arg)" ""
"0000938706" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000938707" "00001847" "50" "3485" "0" "3485" "0" "c.3485del" "r.(?)" "p.(Lys1162ArgfsTer2)" ""
"0000938708" "00001847" "90" "3323" "0" "3323" "0" "c.3323G>A" "r.(?)" "p.(Arg1108His)" ""
"0000938709" "00001847" "90" "2966" "0" "2966" "0" "c.2966T>C" "r.(?)" "p.(Val989Ala)" ""
"0000938710" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" ""
"0000938711" "00001847" "90" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" ""
"0000938712" "00001847" "50" "3409" "0" "3409" "0" "c.3409A>G" "r.(?)" "p.(Arg1137Gly)" ""
"0000938713" "00001847" "70" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" ""
"0000938714" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.(=,5585_5714del)" "p.(Glu1863Leufs*33,=)" ""
"0000938715" "00001847" "30" "3602" "0" "3602" "0" "c.3602T>G" "r.(?)" "p.(Leu1201Arg)" ""
"0000938716" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000938717" "00001847" "90" "5196" "1" "5196" "1" "c.5196+1G>A" "r.spl" "p.?" ""
"0000938718" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000938719" "00001847" "90" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" ""
"0000938720" "00001847" "50" "4667" "3" "4667" "3" "c.4667+3A>C" "r.spl" "p.?" ""
"0000938721" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" ""
"0000938722" "00001847" "90" "5892" "0" "5892" "0" "c.5892del" "r.(?)" "p.(Gly1965GlufsTer9)" ""
"0000938723" "00001847" "70" "6148" "-1" "6479" "1" "c.(6147+1_6148-1)_(6479+1_6480-1)del" "r.?" "p.?" "44i_47i"
"0000938724" "00001847" "50" "4635" "-1" "5584" "1" "c.(4634+1_4635-1)_(5584+1_5585-1)dup" "r.?" "p.?" "31i_39i"
"0000938725" "00001847" "70" "6148" "-1" "6479" "1" "c.(6147+1_6148-1)_(6479+1_6480-1)del" "r.?" "p.?" "44i_47i"
"0000938726" "00001847" "50" "4253" "43" "4253" "43" "c.4253+43G>A" "r.(=,4129_4253del)" "p.(=,Ile1377Hisfs*3)" ""
"0000938727" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000938728" "00001847" "90" "4457" "0" "4457" "0" "c.4457C>T" "r.(?)" "p.(Pro1486Leu)" ""
"0000938729" "00001847" "90" "4457" "0" "4457" "0" "c.4457C>T" "r.(?)" "p.(Pro1486Leu)" ""
"0000938730" "00001847" "50" "4601" "0" "4601" "0" "c.4601T>G" "r.(?)" "p.(Leu1534Trp)" ""
"0000938731" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000938732" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.(=,5585_5714del)" "p.(Glu1863Leufs*33,=)" ""
"0000938733" "00001847" "50" "3647" "0" "3647" "0" "c.3647T>G" "r.(?)" "p.(Val1216Gly)" ""
"0000938734" "00001847" "50" "4253" "43" "4253" "43" "c.4253+43G>A" "r.(=,4129_4253del)" "p.(=,Ile1377Hisfs*3)" ""
"0000938735" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000938736" "00001847" "90" "4328" "0" "4328" "0" "c.4328G>A" "r.(?)" "p.(Arg1443His)" ""
"0000938737" "00001847" "70" "6148" "-1" "6479" "1" "c.(6147+1_6148-1)_(6479+1_6480-1)del" "r.?" "p.?" "44i_47i"
"0000938738" "00001847" "50" "5814" "0" "5817" "0" "c.5814_5817delinsGAGT" "r.(?)" "p.(Arg1939Ser)" ""
"0000938739" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000938740" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000938741" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(5461_5714del,5461_5584del)" "p.(Thr1821Aspfs*6,Thr1821Valfs*13)" ""
"0000938742" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000938743" "00001847" "90" "286" "0" "286" "0" "c.286A>G" "r.(?)" "p.(Asn96Asp)" ""
"0000938744" "00001847" "50" "2089" "0" "2089" "0" "c.2089T>A" "r.(?)" "p.(Trp697Arg)" ""
"0000938745" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>A" "r.(?)" "p.(Arg1129His)" ""
"0000938746" "00001847" "90" "1017" "0" "1017" "0" "c.1017G>A" "r.(?)" "p.(Trp339Ter)" ""
"0000938747" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000938748" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000938749" "00001847" "50" "4253" "43" "4253" "43" "c.4253+43G>A" "r.(=,4129_4253del)" "p.(=,Ile1377Hisfs*3)" ""
"0000938750" "00001847" "90" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" ""
"0000938751" "00001847" "90" "3056" "0" "3056" "0" "c.3056C>T" "r.(?)" "p.(Thr1019Met)" ""
"0000938752" "00001847" "50" "3218" "0" "3218" "0" "c.3218C>T" "r.(?)" "p.(Ala1073Val)" ""
"0000938753" "00001847" "90" "4234" "0" "4234" "0" "c.4234C>T" "r.(?)" "p.(Gln1412Ter)" ""
"0000938754" "00001847" "70" "5332" "0" "5332" "0" "c.5332A>T" "r.(?)" "p.(Met1778Leu)" ""
"0000938755" "00001847" "70" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" ""
"0000938756" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.(=,5585_5714del)" "p.(Glu1863Leufs*33,=)" ""
"0000938757" "00001847" "90" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" ""
"0000938758" "00001847" "90" "6415" "0" "6415" "0" "c.6415C>T" "r.(?)" "p.(Arg2139Trp)" ""
"0000938759" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000938760" "00001847" "90" "3874" "0" "3874" "0" "c.3874C>T" "r.(?)" "p.(Gln1292Ter)" ""
"0000938761" "00001847" "50" "4765" "0" "4765" "0" "c.4765G>A" "r.(?)" "p.(Val1589Met)" ""
"0000938762" "00001847" "90" "4793" "0" "4793" "0" "c.4793C>A" "r.(?)" "p.(Ala1598Asp)" ""
"0000938763" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000938764" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.(=,5585_5714del)" "p.(Glu1863Leufs*33,=)" ""
"0000938765" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000938766" "00001847" "70" "4739" "0" "4739" "0" "c.4739T>C" "r.(?)" "p.(Leu1580Ser)" ""
"0000938767" "00001847" "50" "6515" "0" "6515" "0" "c.6515A>G" "r.(?)" "p.(Lys2172Arg)" ""
"0000938768" "00001847" "90" "1015" "0" "1015" "0" "c.1015T>G" "r.(?)" "p.(Trp339Gly)" ""
"0000938769" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000938770" "00001847" "90" "6118" "0" "6118" "0" "c.6118C>T" "r.(?)" "p.(Arg2040Ter)" ""
"0000938771" "00001847" "90" "5315" "0" "5315" "0" "c.5315G>A" "r.(?)" "p.(Trp1772Ter)" ""
"0000938772" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.(2588g>c,2588_2590del)" "p.(Gly863Ala,Gly863del)" ""
"0000938773" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000938774" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000938775" "00001847" "90" "5169" "0" "5169" "0" "c.5169C>G" "r.(?)" "p.(Tyr1723Ter)" ""
"0000938776" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" ""
"0000938777" "00001847" "90" "1819" "0" "1819" "0" "c.1819G>A" "r.(?)" "p.(Gly607Arg)" ""
"0000938778" "00001847" "90" "3292" "0" "3292" "0" "c.3292C>T" "r.(?)" "p.(Arg1098Cys)" ""
"0000938779" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.(2588g>c,2588_2590del)" "p.(Gly863Ala,Gly863del)" ""
"0000938780" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000938781" "00001847" "90" "4462" "0" "4462" "0" "c.4462T>C" "r.(?)" "p.(Cys1488Arg)" ""
"0000938782" "00001847" "90" "6190" "0" "6190" "0" "c.6190G>A" "r.(?)" "p.(Ala2064Thr)" ""
"0000938783" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000938784" "00001847" "50" "4253" "43" "4253" "43" "c.4253+43G>A" "r.(=,4129_4253del)" "p.(=,Ile1377Hisfs*3)" ""
"0000938785" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000938786" "00001847" "50" "4231" "0" "4231" "0" "c.4231G>T" "r.(?)" "p.(Gly1411Trp)" ""
"0000938787" "00001847" "90" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" ""
"0000938788" "00001847" "70" "5527" "0" "5527" "0" "c.5527C>T" "r.(?)" "p.(Arg1843Trp)" ""
"0000938789" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000938790" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000938791" "00001847" "50" "3331" "0" "3331" "0" "c.3331A>G" "r.(?)" "p.(Arg1111Gly)" ""
"0000938792" "00001847" "50" "4650" "0" "4650" "0" "c.4650C>A" "r.(?)" "p.(Phe1550Leu)" ""
"0000938793" "00001847" "50" "4587" "0" "4587" "0" "c.4587C>A" "r.(?)" "p.(Asn1529Lys)" ""
"0000938794" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.(=,5585_5714del)" "p.(Glu1863Leufs*33,=)" ""
"0000938795" "00001847" "90" "6385" "0" "6385" "0" "c.6385A>G" "r.6340_6386del" "p.(Val2114Hisfs*4)" ""
"0000938796" "00001847" "90" "5044" "0" "5058" "0" "c.5044_5058del" "r.(?)" "p.(Val1682_Val1686del)" ""
"0000938797" "00001847" "50" "5313" "-3" "5313" "-3" "c.5313-3C>A" "r.spl?" "p.?" ""
"0000938798" "00001847" "90" "5312" "1" "5312" "1" "c.5312+1G>A" "r.spl" "p.?" ""
"0000938799" "00001847" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Ter)" ""
"0000938800" "00001847" "90" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973Ter)" ""
"0000938801" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000938802" "00001847" "90" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071CysfsTer14)" ""
"0000938803" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000938804" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000938805" "00001847" "90" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071CysfsTer14)" ""
"0000938806" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000938807" "00001847" "90" "4773" "1" "4773" "1" "c.4773+1G>T" "r.spl" "p.?" ""
"0000938808" "00001847" "90" "6107" "0" "6107" "0" "c.6107A>G" "r.(?)" "p.(Tyr2036Cys)" ""
"0000938809" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000938810" "00001847" "50" "2874" "0" "2874" "0" "c.2874C>G" "r.(?)" "p.(Ile958Met)" ""
"0000938811" "00001847" "30" "6529" "0" "6529" "0" "c.6529G>A" "r.(?)" "p.(Asp2177Asn)" ""
"0000938812" "00001847" "70" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" ""
"0000938813" "00001847" "90" "3754" "0" "3754" "0" "c.3754G>T" "r.(?)" "p.(Glu1252Ter)" ""
"0000938814" "00001847" "50" "3862" "0" "3862" "0" "c.3862G>T" "r.(?)" "p.(Gly1288Cys)" ""
"0000938815" "00001847" "90" "4567" "0" "4567" "0" "c.4567C>T" "r.(?)" "p.(Gln1523Ter)" ""
"0000938816" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000938817" "00001847" "70" "5113" "0" "5113" "0" "c.5113C>T" "r.(?)" "p.(Arg1705Trp)" ""
"0000938818" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.(=,5585_5714del)" "p.(Glu1863Leufs*33,=)" ""
"0000938819" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000938820" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000938821" "00001847" "90" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973Ter)" ""
"0000938822" "00001847" "90" "1086" "0" "1086" "0" "c.1086T>A" "r.(?)" "p.(Tyr362Ter)" ""
"0000938823" "00001847" "70" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" ""
"0000938824" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000938825" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000938826" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(5461_5714del,5461_5584del)" "p.(Thr1821Aspfs*6,Thr1821Valfs*13)" ""
"0000938827" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000938828" "00001847" "90" "4457" "0" "4457" "0" "c.4457C>T" "r.(?)" "p.(Pro1486Leu)" ""
"0000938829" "00001847" "90" "3323" "0" "3323" "0" "c.3323G>A" "r.(?)" "p.(Arg1108His)" ""
"0000938830" "00001847" "90" "6088" "0" "6088" "0" "c.6088C>T" "r.(?)" "p.(Arg2030Ter)" ""
"0000938831" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.(2588g>c,2588_2590del)" "p.(Gly863Ala,Gly863del)" ""
"0000938832" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000938833" "00001847" "70" "3352" "0" "3352" "0" "c.3352C>T" "r.(?)" "p.(His1118Tyr)" ""
"0000938834" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" ""
"0000938835" "00001847" "70" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" ""
"0000938836" "00001847" "50" "6006" "1" "6282" "1" "c.(6005-1_6006+1)_(6282+1_6283-1)del" "r.?" "p.?" "43i_45i"
"0000938837" "00001847" "50" "5351" "0" "5351" "0" "c.5351T>C" "r.(?)" "p.(Leu1784Pro)" ""
"0000938838" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.(=,5585_5714del)" "p.(Glu1863Leufs*33,=)" ""
"0000938839" "00001847" "70" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" ""
"0000938840" "00001847" "90" "6098" "0" "6098" "0" "c.6098T>G" "r.(?)" "p.(Leu2033Arg)" ""
"0000938841" "00001847" "90" "4462" "0" "4462" "0" "c.4462T>C" "r.(?)" "p.(Cys1488Arg)" ""
"0000938842" "00001847" "90" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" ""
"0000938843" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" ""
"0000938844" "00001847" "90" "4070" "0" "4070" "0" "c.4070C>T" "r.(?)" "p.(Ala1357Val)" ""
"0000938845" "00001847" "90" "6385" "0" "6385" "0" "c.6385A>G" "r.6340_6386del" "p.(Val2114Hisfs*4)" ""
"0000938846" "00001847" "90" "6385" "0" "6385" "0" "c.6385A>G" "r.6340_6386del" "p.(Val2114Hisfs*4)" ""
"0000938847" "00001847" "90" "6385" "0" "6385" "0" "c.6385A>G" "r.6340_6386del" "p.(Val2114Hisfs*4)" ""
"0000938848" "00001847" "90" "1015" "0" "1015" "0" "c.1015T>G" "r.(?)" "p.(Trp339Gly)" ""
"0000938849" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000938850" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.(2588g>c,2588_2590del)" "p.(Gly863Ala,Gly863del)" ""
"0000938851" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000938852" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000938853" "00001847" "70" "5512" "0" "5512" "0" "c.5512C>G" "r.(?)" "p.(His1838Asp)" ""
"0000938854" "00001847" "90" "6386" "2" "6386" "2" "c.6386+2C>G" "r.spl" "p.?" ""
"0000938855" "00001847" "90" "655" "0" "655" "0" "c.655A>T" "r.(?)" "p.(Arg219Ter)" ""
"0000938856" "00001847" "70" "6730" "-1" "6730" "-1" "c.6730-1G>C" "r.spl" "p.?" ""
"0000938857" "00001847" "90" "6329" "0" "6329" "0" "c.6329G>A" "r.(?)" "p.(Trp2110Ter)" ""
"0000938858" "00001847" "90" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" ""
"0000938859" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000938860" "00001847" "90" "6449" "0" "6449" "0" "c.6449G>A" "r.(?)" "p.(Cys2150Tyr)" ""
"0000938861" "00001847" "70" "3352" "0" "3352" "0" "c.3352C>T" "r.(?)" "p.(His1118Tyr)" ""
"0000938862" "00001847" "90" "6088" "0" "6088" "0" "c.6088C>T" "r.(?)" "p.(Arg2030Ter)" ""
"0000938863" "00001847" "50" "6132" "0" "6132" "0" "c.6132del" "r.(?)" "p.(Glu2045LysfsTer16)" ""
"0000938864" "00001847" "50" "6132" "0" "6132" "0" "c.6132del" "r.(?)" "p.(Glu2045LysfsTer16)" ""
"0000938865" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(5461_5714del,5461_5584del)" "p.(Thr1821Aspfs*6,Thr1821Valfs*13)" ""
"0000938866" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000938867" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(5461_5714del,5461_5584del)" "p.(Thr1821Aspfs*6,Thr1821Valfs*13)" ""
"0000938868" "00001847" "90" "5892" "0" "5892" "0" "c.5892del" "r.(?)" "p.(Gly1965GlufsTer9)" ""
"0000938869" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000938870" "00001847" "90" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" ""
"0000938871" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000938872" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000938873" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.(2588g>c,2588_2590del)" "p.(Gly863Ala,Gly863del)" ""
"0000938874" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" ""
"0000938875" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000938876" "00001847" "90" "1933" "0" "1933" "0" "c.1933G>A" "r.(?)" "p.(Asp645Asn)" ""
"0000938877" "00001847" "70" "5384" "0" "5384" "0" "c.5384T>C" "r.(?)" "p.(Leu1795Ser)" ""
"0000938878" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" ""
"0000938879" "00001847" "90" "5044" "0" "5058" "0" "c.5044_5058del" "r.(?)" "p.(Val1682_Val1686del)" ""
"0000938880" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.(=,5585_5714del)" "p.(Glu1863Leufs*33,=)" ""
"0000938881" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000938882" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000938883" "00001847" "90" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" ""
"0000938884" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000938885" "00001847" "90" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" ""
"0000938886" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.(=,5585_5714del)" "p.(Glu1863Leufs*33,=)" ""
"0000938887" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000938888" "00001847" "90" "4234" "0" "4234" "0" "c.4234C>T" "r.(?)" "p.(Gln1412Ter)" ""
"0000938889" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" ""
"0000938890" "00001847" "90" "5929" "0" "5929" "0" "c.5929G>A" "r.(?)" "p.(Gly1977Ser)" ""
"0000938891" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" ""
"0000938892" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000938893" "00001847" "70" "2571" "0" "2571" "0" "c.2571del" "r.(?)" "p.(Asp858IlefsTer43)" ""
"0000938894" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(5461_5714del,5461_5584del)" "p.(Thr1821Aspfs*6,Thr1821Valfs*13)" ""
"0000938895" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000938896" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000938897" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(5461_5714del,5461_5584del)" "p.(Thr1821Aspfs*6,Thr1821Valfs*13)" ""
"0000938898" "00001847" "90" "1015" "0" "1015" "0" "c.1015T>G" "r.(?)" "p.(Trp339Gly)" ""
"0000938899" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000938900" "00001847" "50" "3647" "0" "3647" "0" "c.3647T>G" "r.(?)" "p.(Val1216Gly)" ""
"0000938901" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.(2588g>c,2588_2590del)" "p.(Gly863Ala,Gly863del)" ""
"0000938902" "00001847" "90" "6386" "2" "6386" "2" "c.6386+2C>G" "r.spl" "p.?" ""
"0000938903" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000938904" "00001847" "90" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" ""
"0000938905" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" ""
"0000938906" "00001847" "90" "6107" "0" "6107" "0" "c.6107A>G" "r.(?)" "p.(Tyr2036Cys)" ""
"0000938907" "00001847" "50" "2647" "0" "2647" "0" "c.2647G>A" "r.(?)" "p.(Gly883Ser)" ""
"0000938908" "00001847" "90" "6112" "0" "6112" "0" "c.6112C>T" "r.(?)" "p.(Arg2038Trp)" ""
"0000938909" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.(=,5585_5714del)" "p.(Glu1863Leufs*33,=)" ""
"0000938910" "00001847" "70" "5311" "0" "5311" "0" "c.5311G>A" "r.spl?" "p.(Gly1771Arg,?)" ""
"0000938911" "00001847" "70" "5509" "0" "5509" "0" "c.5509C>T" "r.(?)" "p.(Pro1837Ser)" ""
"0000938912" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000938913" "00001847" "70" "868" "0" "868" "0" "c.868C>T" "r.(?)" "p.(Arg290Trp)" ""
"0000938914" "00001847" "90" "2564" "0" "2564" "0" "c.2564G>A" "r.(?)" "p.(Trp855Ter)" ""
"0000938915" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(5461_5714del,5461_5584del)" "p.(Thr1821Aspfs*6,Thr1821Valfs*13)" ""
"0000938916" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.(=,5585_5714del)" "p.(Glu1863Leufs*33,=)" ""
"0000938917" "00001847" "50" "452" "0" "452" "0" "c.452T>A" "r.(?)" "p.(Ile151Lys)" ""
"0000938918" "00001847" "90" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071CysfsTer14)" ""
"0000938919" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.(=,5585_5714del)" "p.(Glu1863Leufs*33,=)" ""
"0000938920" "00001847" "90" "1015" "0" "1015" "0" "c.1015T>G" "r.(?)" "p.(Trp339Gly)" ""
"0000938921" "00001847" "90" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" ""
"0000938922" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" ""
"0000938923" "00001847" "90" "4538" "0" "4539" "0" "c.4538_4539insC" "r.(spl?)" "p.(Gln1513HisfsTer42)" ""
"0000938924" "00001847" "50" "4228" "0" "4228" "0" "c.4228T>A" "r.(?)" "p.(Tyr1410Asn)" ""
"0000938925" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000938926" "00001847" "90" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" ""
"0000938927" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(5461_5714del,5461_5584del)" "p.(Thr1821Aspfs*6,Thr1821Valfs*13)" ""
"0000938928" "00001847" "70" "3482" "0" "3482" "0" "c.3482G>A" "r.(?)" "p.(Arg1161His)" ""
"0000938929" "00001847" "50" "3113" "0" "3113" "0" "c.3113C>A" "r.(?)" "p.(Ala1038Asp)" ""
"0000938930" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" ""
"0000938931" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000938932" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000938933" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000938934" "00001847" "50" "3608" "-2" "3608" "-2" "c.3608-2A>G" "r.spl" "p.?" ""
"0000938935" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" ""
"0000938936" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" ""
"0000938937" "00001847" "50" "1451" "0" "1451" "0" "c.1451A>G" "r.(?)" "p.(Lys484Arg)" ""
"0000938938" "00001847" "90" "6316" "0" "6316" "0" "c.6316C>T" "r.(?)" "p.(Arg2106Cys)" ""
"0000938939" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.(=,5585_5714del)" "p.(Glu1863Leufs*33,=)" ""
"0000938940" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000938941" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000938942" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000938943" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.(2588g>c,2588_2590del)" "p.(Gly863Ala,Gly863del)" ""
"0000938944" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000938945" "00001847" "70" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" ""
"0000938946" "00001847" "70" "4128" "0" "4128" "0" "c.4128G>C" "r.4128_4129ins4128+1_4128+12" "p.(Gln1376_Ile1377insValLeuLeuSer)" ""
"0000938947" "00001847" "90" "5313" "-2" "5313" "-2" "c.5313-2del" "r.spl" "p.?" ""
"0000938948" "00001847" "70" "1204" "0" "1204" "0" "c.1204C>G" "r.(?)" "p.(Pro402Ala)" ""
"0000938949" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000938950" "00001847" "90" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" ""
"0000938951" "00001847" "90" "6386" "2" "6386" "2" "c.6386+2C>G" "r.spl" "p.?" ""
"0000938952" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" ""
"0000938953" "00001847" "70" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" ""
"0000938954" "00001847" "50" "4634" "4" "4634" "4" "c.4634+4A>C" "r.spl" "p.?" ""
"0000938955" "00001847" "90" "6658" "0" "6658" "0" "c.6658C>T" "r.(?)" "p.(Gln2220Ter)" ""
"0000938956" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000938957" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000938958" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" ""
"0000938959" "00001847" "90" "4567" "0" "4567" "0" "c.4567C>T" "r.(?)" "p.(Gln1523Ter)" ""
"0000938960" "00001847" "50" "2413" "0" "2413" "0" "c.2413G>C" "r.(?)" "p.(Gly805Arg)" ""
"0000938961" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000938962" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000938963" "00001847" "90" "5018" "2" "5018" "2" "c.5018+2T>C" "r.spl" "p.?" ""
"0000938964" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000938965" "00001847" "50" "5899" "-3" "5899" "-3" "c.5899-3T>G" "r.spl" "p.?" ""
"0000938966" "00001847" "70" "2034" "0" "2034" "0" "c.2034G>T" "r.(?)" "p.(Lys678Asn)" ""
"0000938967" "00001847" "90" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" ""
"0000938968" "00001847" "90" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" ""
"0000938969" "00001847" "90" "3364" "0" "3364" "0" "c.3364G>A" "r.(?)" "p.(Glu1122Lys)" ""
"0000938970" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000938971" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000938972" "00001847" "90" "3085" "0" "3085" "0" "c.3085C>T" "r.(?)" "p.(Gln1029Ter)" ""
"0000938973" "00001847" "90" "6449" "0" "6449" "0" "c.6449G>A" "r.(?)" "p.(Cys2150Tyr)" ""
"0000938974" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.(2588g>c,2588_2590del)" "p.(Gly863Ala,Gly863del)" ""
"0000938975" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000938976" "00001847" "90" "6107" "0" "6107" "0" "c.6107A>G" "r.(?)" "p.(Tyr2036Cys)" ""
"0000938977" "00001847" "70" "5324" "0" "5324" "0" "c.5324T>A" "r.(?)" "p.(Ile1775Asn)" ""
"0000938978" "00001847" "90" "5461" "-1" "5461" "-1" "c.5461-1G>T" "r.spl" "p.?" ""
"0000938979" "00001847" "90" "71" "0" "71" "0" "c.71G>A" "r.(?)" "p.(Arg24His)" ""
"0000938980" "00001847" "50" "5939" "0" "5939" "0" "c.5939C>T" "r.(?)" "p.(Thr1980Ile)" ""
"0000938981" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.(2588g>c,2588_2590del)" "p.(Gly863Ala,Gly863del)" ""
"0000938982" "00001847" "50" "4625" "0" "4625" "0" "c.4625T>G" "r.(?)" "p.(Ile1542Arg)" ""
"0000938983" "00001847" "50" "3005" "0" "3005" "0" "c.3005G>A" "r.(?)" "p.(Arg1002Gln)" ""
"0000938984" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000938985" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000938986" "00001847" "90" "4537" "0" "4537" "0" "c.4537del" "r.(spl?)" "p.(Gln1513ArgfsTer13)" ""
"0000938987" "00001847" "70" "3814" "-2" "3814" "-2" "c.3814-2A>G" "r.spl" "p.?" ""
"0000938988" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000938989" "00001847" "70" "4594" "0" "4594" "0" "c.4594G>T" "r.(?)" "p.(Asp1532Tyr)" ""
"0000938990" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" ""
"0000938991" "00001847" "70" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" ""
"0000938992" "00001847" "70" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" ""
"0000938993" "00001847" "50" "4872" "0" "4872" "0" "c.4872G>T" "r.(?)" "p.(Trp1624Cys)" ""
"0000938994" "00001847" "90" "4634" "1" "4634" "1" "c.4634+1del" "r.spl" "p.?" ""
"0000938995" "00001847" "90" "5313" "-2" "5313" "-2" "c.5313-2del" "r.spl" "p.?" ""
"0000938996" "00001847" "90" "5929" "0" "5929" "0" "c.5929G>A" "r.(?)" "p.(Gly1977Ser)" ""
"0000938997" "00001847" "90" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" ""
"0000938998" "00001847" "90" "4222" "0" "4222" "0" "c.4222T>C" "r.(?)" "p.(Trp1408Arg)" ""
"0000938999" "00001847" "90" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" ""
"0000939000" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.(2588g>c,2588_2590del)" "p.(Gly863Ala,Gly863del)" ""
"0000939001" "00001847" "90" "4234" "0" "4234" "0" "c.4234C>T" "r.(?)" "p.(Gln1412Ter)" ""
"0000939002" "00001847" "70" "1019" "0" "1019" "0" "c.1019A>G" "r.(?)" "p.(Tyr340Cys)" ""
"0000939003" "00001847" "70" "6283" "-2" "6283" "-2" "c.6283-2A>G" "r.spl" "p.?" ""
"0000939004" "00001847" "90" "5929" "0" "5929" "0" "c.5929G>A" "r.(?)" "p.(Gly1977Ser)" ""
"0000939005" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" ""
"0000939006" "00001847" "50" "6386" "3" "6386" "3" "c.6386+3A>G" "r.(6386_6387ins6386+1_6387-1,6340_6386del,=)" "p.(Ser2129Serfs*29,Val2114Hisfs*4,=)" ""
"0000939007" "00001847" "90" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" ""
"0000939008" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000939009" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.(=,5585_5714del)" "p.(Glu1863Leufs*33,=)" ""
"0000939010" "00001847" "90" "6704" "0" "6704" "0" "c.6704C>G" "r.(?)" "p.(Ser2235Ter)" ""
"0000939011" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000939012" "00001847" "90" "4734" "0" "4734" "0" "c.4734del" "r.(?)" "p.(Leu1580Ter)" ""
"0000939013" "00001847" "90" "6445" "0" "6445" "0" "c.6445C>T" "r.(?)" "p.(Arg2149Ter)" ""
"0000939014" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(5461_5714del,5461_5584del)" "p.(Thr1821Aspfs*6,Thr1821Valfs*13)" ""
"0000939015" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000939016" "00001847" "90" "286" "0" "286" "0" "c.286A>G" "r.(?)" "p.(Asn96Asp)" ""
"0000939017" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000939018" "00001847" "90" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" ""
"0000939019" "00001847" "90" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.(=,5196_5197ins5196+1140_5196+1212)" "p.(=,Met1733Glufs*78)" ""
"0000939020" "00001847" "50" "4771" "0" "4771" "0" "c.4771G>A" "r.spl?" "p.(Gly1591Arg,?)" ""
"0000939021" "00001847" "90" "1937" "1" "1937" "1" "c.1937+1G>A" "r.spl" "p.?" ""
"0000939022" "00001847" "70" "5774" "0" "5774" "0" "c.5774G>T" "r.(?)" "p.(Arg1925Ile)" ""
"0000939023" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(5461_5714del,5461_5584del)" "p.(Thr1821Aspfs*6,Thr1821Valfs*13)" ""
"0000939024" "00001847" "90" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" ""
"0000939025" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000939026" "00001847" "90" "6088" "0" "6088" "0" "c.6088C>T" "r.(?)" "p.(Arg2030Ter)" ""
"0000939027" "00001847" "50" "6005" "2" "6005" "2" "c.6005+2T>A" "r.spl" "p.?" ""
"0000939028" "00001847" "50" "4685" "0" "4685" "0" "c.4685T>C" "r.(?)" "p.(Ile1562Thr)" ""
"0000939029" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000939030" "00001847" "50" "4635" "-1" "4635" "-1" "c.4635-1G>A" "r.spl" "p.?" ""
"0000939031" "00001847" "90" "3259" "0" "3259" "0" "c.3259G>A" "r.(?)" "p.(Glu1087Lys)" ""
"0000939032" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000939033" "00001847" "50" "4771" "0" "4771" "0" "c.4771G>A" "r.spl?" "p.(Gly1591Arg,?)" ""
"0000939034" "00001847" "50" "3813" "0" "3813" "0" "c.3813G>T" "r.spl?" "p.(Glu1271Asp,?)" ""
"0000939035" "00001847" "50" "4129" "-1" "4539" "1" "c.(4128+1_4129-1)_(4539+1_4540-1)del" "r.?" "p.?" "27i_30i"
"0000939036" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000939037" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.(=,5585_5714del)" "p.(Glu1863Leufs*33,=)" ""
"0000939038" "00001847" "90" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" ""
"0000939039" "00001847" "50" "6386" "0" "6386" "0" "c.6386G>A" "r.spl?" "p.(Ser2129Asn,?)" ""
"0000939040" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" ""
"0000939041" "00001847" "70" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" ""
"0000939042" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000939043" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.(=,5585_5714del)" "p.(Glu1863Leufs*33,=)" ""
"0000939044" "00001847" "70" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" ""
"0000939045" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000939046" "00001847" "90" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" ""
"0000939047" "00001847" "50" "5461" "-1" "6816" "1" "c.(5460+1_5461-1)_(6816+1_6817-1)del" "r.?" "p.?" "38i_49i"
"0000939048" "00001847" "90" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973Ter)" ""
"0000939049" "00001847" "90" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" ""
"0000939050" "00001847" "50" "3409" "0" "3409" "0" "c.3409A>G" "r.(?)" "p.(Arg1137Gly)" ""
"0000939051" "00001847" "90" "6545" "0" "6580" "0" "c.6545_6580del" "r.(?)" "p.(Leu2182_Phe2193del)" ""
"0000939052" "00001847" "90" "6410" "0" "6410" "0" "c.6410G>A" "r.(?)" "p.(Cys2137Tyr)" ""
"0000939053" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000939054" "00001847" "90" "5929" "0" "5929" "0" "c.5929G>A" "r.(?)" "p.(Gly1977Ser)" ""
"0000939055" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" ""
"0000939056" "00001847" "50" "3164" "0" "3164" "0" "c.3164G>A" "r.(?)" "p.(Arg1055Gln)" ""
"0000939057" "00001847" "90" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071CysfsTer14)" ""
"0000939058" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000939059" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.(2588g>c,2588_2590del)" "p.(Gly863Ala,Gly863del)" ""
"0000939060" "00001847" "90" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" ""
"0000939061" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000939062" "00001847" "70" "6339" "0" "6339" "0" "c.6339C>G" "r.(?)" "p.(Ile2113Met)" ""
"0000939063" "00001847" "90" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" ""
"0000939064" "00001847" "70" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" ""
"0000939065" "00001847" "90" "982" "0" "982" "0" "c.982G>T" "r.(?)" "p.(Glu328Ter)" ""
"0000939066" "00001847" "70" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" ""
"0000939067" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000939068" "00001847" "50" "3607" "0" "3607" "0" "c.3607G>T" "r.spl?" "p.(Gly1203Trp)" ""
"0000939069" "00001847" "90" "4734" "0" "4739" "0" "c.4734_4739delinsCC" "r.(?)" "p.(Phe1579GlnfsTer8)" ""
"0000939070" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000939071" "00001847" "90" "6545" "0" "6580" "0" "c.6545_6580del" "r.(?)" "p.(Leu2182_Phe2193del)" ""
"0000939072" "00001847" "90" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973Ter)" ""
"0000939073" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.(=,5585_5714del)" "p.(Glu1863Leufs*33,=)" ""
"0000939074" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000939075" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000939076" "00001847" "90" "885" "0" "885" "0" "c.885del" "r.(?)" "p.(Leu296CysfsTer4)" ""
"0000939077" "00001847" "50" "6455" "0" "6455" "0" "c.6455G>C" "r.(?)" "p.(Gly2152Ala)" ""
"0000939078" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000939079" "00001847" "90" "4880" "0" "4880" "0" "c.4880del" "r.(?)" "p.(Leu1627ArgfsTer35)" ""
"0000939080" "00001847" "90" "6419" "0" "6419" "0" "c.6419T>A" "r.(?)" "p.(Leu2140Gln)" ""
"0000939081" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.(=,5585_5714del)" "p.(Glu1863Leufs*33,=)" ""
"0000939082" "00001847" "90" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" ""
"0000939083" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000939084" "00001847" "50" "6006" "-3" "6006" "-3" "c.6006-3C>A" "r.spl" "p.?" ""
"0000939085" "00001847" "90" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" ""
"0000939086" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000939087" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000939088" "00001847" "90" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" ""
"0000939089" "00001847" "90" "5888" "0" "5888" "0" "c.5888del" "r.(?)" "p.(Arg1963ProfsTer11)" ""
"0000939090" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000939091" "00001847" "90" "4537" "0" "4537" "0" "c.4537dup" "r.(spl?)" "p.(Gln1513ProfsTer42)" ""
"0000939092" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000939093" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.(=,5585_5714del)" "p.(Glu1863Leufs*33,=)" ""
"0000939094" "00001847" "50" "4096" "0" "4096" "0" "c.4096A>C" "r.(?)" "p.(Thr1366Pro)" ""
"0000939095" "00001847" "90" "6385" "0" "6385" "0" "c.6385A>G" "r.6340_6386del" "p.(Val2114Hisfs*4)" ""
"0000939096" "00001847" "50" "3067" "0" "3067" "0" "c.3067C>G" "r.(?)" "p.(His1023Asp)" ""
"0000939097" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" ""
"0000939098" "00001847" "90" "3994" "0" "3994" "0" "c.3994C>T" "r.(?)" "p.(Gln1332Ter)" ""
"0000939099" "00001847" "90" "3364" "0" "3364" "0" "c.3364G>A" "r.(?)" "p.(Glu1122Lys)" ""
"0000939100" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" ""
"0000939101" "00001847" "50" "5560" "0" "5560" "0" "c.5560G>T" "r.(?)" "p.(Val1854Leu)" ""
"0000939102" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000939103" "00001847" "70" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" ""
"0000939104" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" ""
"0000939105" "00001847" "70" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" ""
"0000939106" "00001847" "90" "4956" "0" "4956" "0" "c.4956T>G" "r.(?)" "p.(Tyr1652Ter)" ""
"0000939107" "00001847" "90" "3813" "0" "3813" "0" "c.3813G>C" "r.3608_3813del" "p.(Gly1203Aspfs*10)" ""
"0000939108" "00001847" "70" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" ""
"0000939109" "00001847" "90" "5381" "0" "5381" "0" "c.5381C>A" "r.(?)" "p.(Ala1794Asp)" ""
"0000939110" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000939111" "00001847" "70" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" ""
"0000939112" "00001847" "90" "5313" "-2" "5313" "-2" "c.5313-2del" "r.spl" "p.?" ""
"0000939113" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000939114" "00001847" "50" "6221" "0" "6221" "0" "c.6221del" "r.(?)" "p.(Gly2074AlafsTer41)" ""
"0000939115" "00001847" "90" "5018" "2" "5018" "2" "c.5018+2T>C" "r.spl" "p.?" ""
"0000939116" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000939117" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(5461_5714del,5461_5584del)" "p.(Thr1821Aspfs*6,Thr1821Valfs*13)" ""
"0000939118" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" ""
"0000939119" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" ""
"0000939120" "00001847" "90" "1015" "0" "1015" "0" "c.1015T>G" "r.(?)" "p.(Trp339Gly)" ""
"0000939121" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000939122" "00001847" "90" "2041" "0" "2041" "0" "c.2041C>T" "r.(?)" "p.(Arg681Ter)" ""
"0000939123" "00001847" "90" "6718" "0" "6718" "0" "c.6718A>G" "r.(?)" "p.(Thr2240Ala)" ""
"0000939124" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" ""
"0000939125" "00001847" "50" "4863" "0" "4863" "0" "c.4863C>G" "r.(?)" "p.(Asn1621Lys)" ""
"0000939126" "00001847" "90" "2971" "0" "2971" "0" "c.2971G>C" "r.(?)" "p.(Gly991Arg)" ""
"0000939127" "00001847" "50" "6809" "0" "6816" "10" "c.6809_6816+10del" "r.spl" "p.(Gln2270Argfs*72,?)" ""
"0000939128" "00001847" "90" "6445" "0" "6445" "0" "c.6445C>T" "r.(?)" "p.(Arg2149Ter)" ""
"0000939129" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000939130" "00001847" "90" "5888" "0" "5888" "0" "c.5888del" "r.(?)" "p.(Arg1963ProfsTer11)" ""
"0000939131" "00001847" "90" "6449" "0" "6449" "0" "c.6449G>A" "r.(?)" "p.(Cys2150Tyr)" ""
"0000939132" "00001847" "50" "5744" "0" "5744" "0" "c.5744T>C" "r.(?)" "p.(Val1915Ala)" ""
"0000939133" "00001847" "90" "1822" "0" "1822" "0" "c.1822T>A" "r.(?)" "p.(Phe608Ile)" ""
"0000939134" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000939135" "00001847" "90" "4234" "0" "4234" "0" "c.4234C>T" "r.(?)" "p.(Gln1412Ter)" ""
"0000939136" "00001847" "50" "4253" "43" "4253" "43" "c.4253+43G>A" "r.(=,4129_4253del)" "p.(=,Ile1377Hisfs*3)" ""
"0000939137" "00001847" "70" "2912" "0" "2912" "0" "c.2912C>A" "r.(?)" "p.(Thr971Asn)" ""
"0000939138" "00001847" "90" "6088" "0" "6088" "0" "c.6088C>T" "r.(?)" "p.(Arg2030Ter)" ""
"0000939139" "00001847" "90" "2971" "0" "2971" "0" "c.2971G>C" "r.(?)" "p.(Gly991Arg)" ""
"0000939140" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" ""
"0000939141" "00001847" "90" "4919" "0" "4919" "0" "c.4919G>A" "r.(?)" "p.(Arg1640Gln)" ""
"0000939142" "00001847" "90" "5172" "0" "5172" "0" "c.5172G>A" "r.(?)" "p.(Trp1724Ter)" ""
"0000939143" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000939144" "00001847" "90" "5929" "0" "5929" "0" "c.5929G>A" "r.(?)" "p.(Gly1977Ser)" ""
"0000939145" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.(=,5585_5714del)" "p.(Glu1863Leufs*33,=)" ""
"0000939146" "00001847" "90" "4070" "0" "4070" "0" "c.4070C>T" "r.(?)" "p.(Ala1357Val)" ""
"0000939147" "00001847" "50" "4253" "43" "4253" "43" "c.4253+43G>A" "r.(=,4129_4253del)" "p.(=,Ile1377Hisfs*3)" ""
"0000939148" "00001847" "50" "4253" "43" "4253" "43" "c.4253+43G>A" "r.(=,4129_4253del)" "p.(=,Ile1377Hisfs*3)" ""
"0000939149" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000939150" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000939151" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000939152" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000939153" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(5461_5714del,5461_5584del)" "p.(Thr1821Aspfs*6,Thr1821Valfs*13)" ""
"0000939154" "00001847" "90" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071CysfsTer14)" ""
"0000939155" "00001847" "50" "3067" "0" "3067" "0" "c.3067C>G" "r.(?)" "p.(His1023Asp)" ""
"0000939156" "00001847" "90" "6088" "0" "6088" "0" "c.6088C>T" "r.(?)" "p.(Arg2030Ter)" ""
"0000939157" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.(=,5585_5714del)" "p.(Glu1863Leufs*33,=)" ""
"0000939158" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000939159" "00001847" "90" "2099" "0" "2099" "0" "c.2099G>A" "r.(?)" "p.(Trp700Ter)" ""
"0000939160" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000939161" "00001847" "90" "6119" "0" "6119" "0" "c.6119G>A" "r.(?)" "p.(Arg2040Gln)" ""
"0000939162" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000939163" "00001847" "90" "3323" "0" "3323" "0" "c.3323G>A" "r.(?)" "p.(Arg1108His)" ""
"0000939164" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000939165" "00001847" "50" "3647" "0" "3647" "0" "c.3647T>G" "r.(?)" "p.(Val1216Gly)" ""
"0000939166" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000939167" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000939168" "00001847" "90" "1343" "0" "1343" "0" "c.1343T>A" "r.(?)" "p.(Met448Lys)" ""
"0000939169" "00001847" "90" "571" "-2" "571" "-2" "c.571-2A>G" "r.spl" "p.?" ""
"0000939170" "00001847" "70" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" ""
"0000939171" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000939172" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000939173" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000939174" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000939175" "00001847" "90" "5929" "0" "5929" "0" "c.5929G>A" "r.(?)" "p.(Gly1977Ser)" ""
"0000939176" "00001847" "90" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" ""
"0000939177" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000939178" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" ""
"0000939179" "00001847" "70" "6721" "0" "6721" "0" "c.6721C>G" "r.(?)" "p.(Leu2241Val)" ""
"0000939180" "00001847" "90" "2564" "0" "2564" "0" "c.2564G>A" "r.(?)" "p.(Trp855Ter)" ""
"0000939181" "00001847" "50" "2903" "0" "2903" "0" "c.2903G>A" "r.(?)" "p.(Gly968Glu)" ""
"0000939182" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000939183" "00001847" "90" "5888" "0" "5888" "0" "c.5888del" "r.(?)" "p.(Arg1963ProfsTer11)" ""
"0000939184" "00001847" "50" "5671" "0" "5674" "0" "c.5671_5674del" "r.(?)" "p.(Leu1891Ter)" ""
"0000939185" "00001847" "90" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" ""
"0000939186" "00001847" "50" "5609" "0" "5609" "0" "c.5609del" "r.(?)" "p.(Phe1870SerfsTer5)" ""
"0000939187" "00001847" "50" "4650" "0" "4650" "0" "c.4650C>A" "r.(?)" "p.(Phe1550Leu)" ""
"0000939188" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000939189" "00001847" "70" "4383" "0" "4383" "0" "c.4383G>C" "r.(?)" "p.(Trp1461Cys)" ""
"0000939190" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.(=,5585_5714del)" "p.(Glu1863Leufs*33,=)" ""
"0000939191" "00001847" "90" "6310" "0" "6310" "0" "c.6310C>T" "r.(?)" "p.(Gln2104Ter)" ""
"0000939192" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000939193" "00001847" "90" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973Ter)" ""
"0000939194" "00001847" "50" "5019" "-2" "5019" "-2" "c.5019-2A>C" "r.spl" "p.?" ""
"0000939195" "00001847" "90" "1819" "0" "1819" "0" "c.1819G>A" "r.(?)" "p.(Gly607Arg)" ""
"0000939196" "00001847" "70" "2791" "0" "2791" "0" "c.2791G>A" "r.(?)" "p.(Val931Met)" ""
"0000939197" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000939198" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000939199" "00001847" "50" "4880" "0" "4880" "0" "c.4880T>C" "r.(?)" "p.(Leu1627Pro)" ""
"0000939200" "00001847" "90" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" ""
"0000939201" "00001847" "90" "3813" "0" "3813" "0" "c.3813G>C" "r.3608_3813del" "p.(Gly1203Aspfs*10)" ""
"0000939202" "00001847" "70" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" ""
"0000939203" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000939204" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000939205" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000939206" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(5461_5714del,5461_5584del)" "p.(Thr1821Aspfs*6,Thr1821Valfs*13)" ""
"0000939207" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(5461_5714del,5461_5584del)" "p.(Thr1821Aspfs*6,Thr1821Valfs*13)" ""
"0000939208" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.(2588g>c,2588_2590del)" "p.(Gly863Ala,Gly863del)" ""
"0000939209" "00001847" "90" "2966" "0" "2966" "0" "c.2966T>C" "r.(?)" "p.(Val989Ala)" ""
"0000939210" "00001847" "90" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" ""
"0000939211" "00001847" "70" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" ""
"0000939212" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.(=,5585_5714del)" "p.(Glu1863Leufs*33,=)" ""
"0000939213" "00001847" "50" "1510" "0" "1510" "0" "c.1510A>T" "r.(?)" "p.(Asn504Tyr)" ""
"0000939214" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.(=,5585_5714del)" "p.(Glu1863Leufs*33,=)" ""
"0000939215" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000939216" "00001847" "90" "4567" "0" "4567" "0" "c.4567C>T" "r.(?)" "p.(Gln1523Ter)" ""
"0000939217" "00001847" "90" "3323" "0" "3323" "0" "c.3323G>A" "r.(?)" "p.(Arg1108His)" ""
"0000939218" "00001847" "70" "3329" "-1" "3329" "-1" "c.3329-1G>A" "r.spl" "p.?" ""
"0000939219" "00001847" "50" "5878" "0" "5879" "0" "c.5878_5879del" "r.(?)" "p.(Val1960ArgfsTer49)" ""
"0000939220" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000939221" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" ""
"0000939222" "00001847" "90" "5318" "0" "5318" "0" "c.5318C>T" "r.(?)" "p.(Ala1773Val)" ""
"0000939223" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000939224" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.(=,5585_5714del)" "p.(Glu1863Leufs*33,=)" ""
"0000939225" "00001847" "90" "6445" "0" "6445" "0" "c.6445C>T" "r.(?)" "p.(Arg2149Ter)" ""
"0000939226" "00001847" "90" "4793" "0" "4793" "0" "c.4793C>A" "r.(?)" "p.(Ala1598Asp)" ""
"0000939227" "00001847" "90" "3808" "0" "3808" "0" "c.3808G>T" "r.(?)" "p.(Glu1270Ter)" ""
"0000939228" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000939229" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000939230" "00001847" "50" "4685" "0" "4685" "0" "c.4685T>C" "r.(?)" "p.(Ile1562Thr)" ""
"0000939231" "00001847" "70" "5113" "0" "5113" "0" "c.5113C>T" "r.(?)" "p.(Arg1705Trp)" ""
"0000939232" "00001847" "90" "6816" "1" "6816" "1" "c.6816+1G>A" "r.spl" "p.?" ""
"0000939233" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.(=,5585_5714del)" "p.(Glu1863Leufs*33,=)" ""
"0000939234" "00001847" "90" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973Ter)" ""
"0000939235" "00001847" "90" "5898" "2" "5898" "2" "c.5898+2T>C" "r.spl" "p.?" ""
"0000939236" "00001847" "90" "5461" "-1" "5461" "-1" "c.5461-1G>T" "r.spl" "p.?" ""
"0000939237" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(5461_5714del,5461_5584del)" "p.(Thr1821Aspfs*6,Thr1821Valfs*13)" ""
"0000939238" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000939239" "00001847" "90" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" ""
"0000939240" "00001847" "70" "6286" "0" "6286" "0" "c.6286G>A" "r.(?)" "p.(Glu2096Lys)" ""
"0000939241" "00001847" "90" "4070" "0" "4070" "0" "c.4070C>T" "r.(?)" "p.(Ala1357Val)" ""
"0000939242" "00001847" "50" "5077" "0" "5077" "0" "c.5077G>A" "r.(?)" "p.(Val1693Ile)" ""
"0000939243" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000939244" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" ""
"0000939245" "00001847" "50" "3449" "0" "3449" "0" "c.3449G>A" "r.(?)" "p.(Cys1150Tyr)" ""
"0000939246" "00001847" "70" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" ""
"0000939247" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000939248" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000939249" "00001847" "70" "6220" "0" "6220" "0" "c.6220G>A" "r.(?)" "p.(Gly2074Ser)" ""
"0000939250" "00001847" "90" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" ""
"0000939251" "00001847" "90" "5316" "0" "5316" "0" "c.5316G>A" "r.(?)" "p.(Trp1772Ter)" ""
"0000939252" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000939253" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000939254" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000939255" "00001847" "90" "5888" "0" "5888" "0" "c.5888del" "r.(?)" "p.(Arg1963ProfsTer11)" ""
"0000939256" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" ""
"0000939257" "00001847" "90" "3364" "0" "3364" "0" "c.3364G>A" "r.(?)" "p.(Glu1122Lys)" ""
"0000939258" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000939259" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000939260" "00001847" "90" "1805" "0" "1805" "0" "c.1805G>A" "r.(?)" "p.(Arg602Gln)" ""
"0000939261" "00001847" "50" "2942" "0" "2942" "0" "c.2942C>T" "r.(?)" "p.(Pro981Leu)" ""
"0000939262" "00001847" "70" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" ""
"0000939263" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" ""
"0000939264" "00001847" "50" "3085" "0" "3085" "0" "c.3085dup" "r.(?)" "p.(Gln1029ProfsTer29)" ""
"0000939265" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(5461_5714del,5461_5584del)" "p.(Thr1821Aspfs*6,Thr1821Valfs*13)" ""
"0000939266" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000939267" "00001847" "70" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" ""
"0000939268" "00001847" "90" "6316" "0" "6316" "0" "c.6316C>T" "r.(?)" "p.(Arg2106Cys)" ""
"0000939269" "00001847" "50" "5692" "0" "5692" "0" "c.5692C>T" "r.(?)" "p.(Arg1898Cys)" ""
"0000939270" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000939271" "00001847" "70" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" ""
"0000939272" "00001847" "30" "3602" "0" "3602" "0" "c.3602T>G" "r.(?)" "p.(Leu1201Arg)" ""
"0000939273" "00001847" "50" "4951" "0" "4951" "0" "c.4951G>T" "r.(?)" "p.(Glu1651Ter)" ""
"0000939274" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000939275" "00001847" "90" "4537" "0" "4537" "0" "c.4537del" "r.(spl?)" "p.(Gln1513ArgfsTer13)" ""
"0000939276" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(5461_5714del,5461_5584del)" "p.(Thr1821Aspfs*6,Thr1821Valfs*13)" ""
"0000939277" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(5461_5714del,5461_5584del)" "p.(Thr1821Aspfs*6,Thr1821Valfs*13)" ""
"0000939278" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000939279" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(5461_5714del,5461_5584del)" "p.(Thr1821Aspfs*6,Thr1821Valfs*13)" ""
"0000939280" "00001847" "90" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" ""
"0000939281" "00001847" "50" "1922" "0" "1922" "0" "c.1922G>C" "r.(?)" "p.(Cys641Ser)" ""
"0000939282" "00001847" "50" "6623" "0" "6623" "0" "c.6623T>A" "r.(?)" "p.(Phe2208Tyr)" ""
"0000939283" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000939284" "00001847" "50" "2299" "0" "2303" "0" "c.2299_2303delinsTTAA" "r.(?)" "p.(Val767LeufsTer20)" ""
"0000939285" "00001847" "90" "3994" "0" "3994" "0" "c.3994C>T" "r.(?)" "p.(Gln1332Ter)" ""
"0000939286" "00001847" "50" "3335" "0" "3335" "0" "c.3335C>T" "r.(?)" "p.(Thr1112Ile)" ""
"0000939287" "00001847" "90" "5169" "0" "5169" "0" "c.5169C>G" "r.(?)" "p.(Tyr1723Ter)" ""
"0000939288" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000939289" "00001847" "70" "1364" "0" "1364" "0" "c.1364T>A" "r.(?)" "p.(Leu455Gln)" ""
"0000939290" "00001847" "70" "5923" "0" "5923" "0" "c.5923G>C" "r.(?)" "p.(Gly1975Arg)" ""
"0000939291" "00001847" "70" "2791" "0" "2791" "0" "c.2791G>A" "r.(?)" "p.(Val931Met)" ""
"0000939292" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" ""
"0000939293" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000939294" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" ""
"0000939295" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.(5461_5714del,5461_5584del)" "p.(Thr1821Aspfs*6,Thr1821Valfs*13)" ""
"0000939296" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000939297" "00001847" "90" "6445" "0" "6445" "0" "c.6445C>T" "r.(?)" "p.(Arg2149Ter)" ""
"0000939298" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000939299" "00001847" "50" "4795" "0" "4795" "0" "c.4795T>C" "r.(?)" "p.(Ser1599Pro)" ""
"0000939300" "00001847" "90" "2587" "2" "2587" "2" "c.2587+2T>C" "r.spl" "p.?" ""
"0000939301" "00001847" "90" "3364" "0" "3364" "0" "c.3364G>A" "r.(?)" "p.(Glu1122Lys)" ""
"0000939302" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000939303" "00001847" "50" "3589" "0" "3602" "0" "c.3589_3602dup" "r.(?)" "p.(Asp1202GlnfsTer9)" ""
"0000939304" "00001847" "90" "5512" "0" "5512" "0" "c.5512C>T" "r.(?)" "p.(His1838Tyr)" ""
"0000939305" "00001847" "50" "3916" "0" "3916" "0" "c.3916delinsGT" "r.(?)" "p.(Pro1306ValfsTer116)" ""
"0000939306" "00001847" "90" "5318" "0" "5318" "0" "c.5318C>T" "r.(?)" "p.(Ala1773Val)" ""
"0000939307" "00001847" "70" "5087" "0" "5087" "0" "c.5087G>A" "r.(?)" "p.(Ser1696Asn)" ""
"0000939308" "00001847" "50" "3617" "0" "3617" "0" "c.3617del" "r.(?)" "p.(Asn1206MetfsTer3)" ""
"0000939309" "00001847" "90" "3364" "0" "3364" "0" "c.3364G>A" "r.(?)" "p.(Glu1122Lys)" ""
"0000939310" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000939311" "00001847" "50" "4668" "-1" "4668" "-1" "c.4668-1G>T" "r.spl" "p.?" ""
"0000939312" "00001847" "70" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" ""
"0000944680" "00001847" "50" "574" "0" "574" "0" "c.574G>A" "r.(?)" "p.(Ala192Thr)" "6"
"0000944681" "00001847" "70" "1927" "0" "1927" "0" "c.1927G>A" "r.(?)" "p.(Val643Met)" "13"
"0000944682" "00001847" "90" "6088" "0" "6088" "0" "c.6088C>T" "r.(?)" "p.(Arg2030*)" "44"
"0000944830" "00001847" "70" "4224" "0" "4224" "0" "c.4224G>C" "r.(?)" "p.(Trp1408Cys)" ""
"0000944831" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000944832" "00001847" "50" "970" "0" "970" "0" "c.970T>C" "r.(?)" "p.(Cys324Arg)" ""
"0000944833" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000944834" "00001847" "90" "4383" "0" "4383" "0" "c.4383G>A" "r.(?)" "p.(Trp1461*)" ""
"0000944835" "00001847" "50" "3259" "0" "3259" "0" "c.3259G>A" "r.(?)" "p.(Glu1087Lys)" ""
"0000944869" "00001847" "90" "6148" "-1" "6479" "1" "c.(6147+1_6148-1)_(6479+1_6480-1)del" "r.?" "-" "44i_47i"
"0000944870" "00001847" "90" "6148" "-1" "6479" "1" "c.(6147+1_6148-1)_(6479+1_6480-1)del" "r.?" "-" "44i_47i"
"0000944871" "00001847" "70" "4635" "-1" "5714" "1" "c.(4634+1_4635-1)_(5714+1_5715-1)dup" "r.?" "p.?" "31i_40i"
"0000944872" "00001847" "90" "6148" "-1" "6479" "1" "c.(6147+1_6148-1)_(6479+1_6480-1)del" "r.?" "-" "44i_47i"
"0000944873" "00001847" "70" "4635" "-1" "5714" "1" "c.(4634+1_4635-1)_(5714+1_5715-1)dup" "r.?" "p.?" "31i_40i"
"0000944874" "00001847" "90" "6148" "-1" "6479" "1" "c.(6147+1_6148-1)_(6479+1_6480-1)del" "r.?" "-" "44i_47i"
"0000944875" "00001847" "70" "4635" "-1" "5714" "1" "c.(4634+1_4635-1)_(5714+1_5715-1)dup" "r.?" "p.?" "31i_40i"
"0000944876" "00001847" "90" "6148" "-1" "6479" "1" "c.(6147+1_6148-1)_(6479+1_6480-1)del" "r.?" "-" "44i_47i"
"0000947315" "00001847" "50" "6148" "0" "6148" "0" "c.6148G>C" "r.(?)" "p.(Val2050Leu)" ""
"0000947316" "00001847" "70" "4539" "2028" "4539" "2028" "c.4539+2028C>T" "r.(=)" "p.(=)" ""
"0000947317" "00001847" "10" "4283" "0" "4283" "0" "c.4283C>T" "r.(?)" "p.(Thr1428Met)" ""
"0000947318" "00001847" "70" "3323" "0" "3323" "0" "c.3323G>T" "r.(?)" "p.(Arg1108Leu)" ""
"0000947319" "00001847" "90" "3093" "0" "3093" "0" "c.3093del" "r.(?)" "p.(Gly1032Glufs*52)" ""
"0000947320" "00001847" "70" "3004" "0" "3004" "0" "c.3004C>T" "r.(?)" "p.(Arg1002Trp)" ""
"0000947321" "00001847" "70" "2870" "0" "2870" "0" "c.2870A>G" "r.(?)" "p.(Gln957Arg)" ""
"0000947322" "00001847" "30" "859" "-518" "859" "-518" "c.859-518T>C" "r.(=)" "p.(=)" ""
"0000954009" "00001847" "70" "1958" "0" "1958" "0" "c.1958G>A" "r.(?)" "p.(Arg653His)" ""
"0000954079" "00001847" "90" "3470" "0" "3470" "0" "c.3470T>G" "r.(?)" "p.(Leu1157Ter)" ""
"0000955474" "00001847" "70" "1037" "0" "1037" "0" "c.1037A>C" "r.(?)" "p.(Lys346Thr)" ""
"0000955475" "00001847" "90" "6088" "0" "6088" "0" "c.6088C>T" "r.(?)" "p.(Arg2030Ter)" ""
"0000955476" "00001847" "90" "3392" "0" "3393" "0" "c.3392_3393delinsG" "r.(?)" "p.(Ala1131GlyfsTer17)" ""
"0000955477" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.[(2588g>c,2588_2590del)]" "p.[(Gly863Ala,Gly863del)]" ""
"0000955478" "00001847" "90" "1317" "0" "1317" "0" "c.1317G>A" "r.(?)" "p.(Trp439Ter)" ""
"0000955479" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" ""
"0000955480" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.[(2588g>c,2588_2590del)]" "p.[(Gly863Ala,Gly863del)]" ""
"0000955481" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" ""
"0000955482" "00001847" "90" "2041" "0" "2041" "0" "c.2041C>T" "r.(?)" "p.(Arg681Ter)" ""
"0000955483" "00001847" "50" "1922" "0" "1922" "0" "c.1922G>C" "r.(?)" "p.(Cys641Ser)" ""
"0000955484" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[(5461_5714del,5461_5584del)]" "p.[(Thr1821Aspfs*6,Thr1821Valfs*13)]" ""
"0000955485" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" ""
"0000955486" "00001847" "90" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071CysfsTer14)" ""
"0000955487" "00001847" "90" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071CysfsTer14)" ""
"0000955488" "00001847" "90" "3178" "0" "3178" "0" "c.3178C>T" "r.(?)" "p.(Gln1060Ter)" ""
"0000955489" "00001847" "90" "1805" "0" "1805" "0" "c.1805G>A" "r.(?)" "p.(Arg602Gln)" ""
"0000955490" "00001847" "90" "1805" "0" "1805" "0" "c.1805G>A" "r.(?)" "p.(Arg602Gln)" ""
"0000955491" "00001847" "90" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071CysfsTer14)" ""
"0000955492" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[(5461_5714del,5461_5584del)]" "p.[(Thr1821Aspfs*6,Thr1821Valfs*13)]" ""
"0000955493" "00001847" "90" "2345" "0" "2345" "0" "c.2345G>A" "r.(?)" "p.(Trp782Ter)" ""
"0000955494" "00001847" "90" "161" "0" "161" "0" "c.161G>A" "r.[(161_302del,161g>a)]" "p.[(Cys54Serfs*14,Cys54Tyr)]" ""
"0000955495" "00001847" "90" "161" "0" "161" "0" "c.161G>A" "r.[(161_302del,161g>a)]" "p.[(Cys54Serfs*14,Cys54Tyr)]" ""
"0000955496" "00001847" "70" "1760" "1" "1760" "1" "c.1760+1G>A" "r.spl" "p.?" ""
"0000955497" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000955498" "00001847" "50" "4685" "0" "4685" "0" "c.4685T>C" "r.(?)" "p.(Ile1562Thr)" ""
"0000955499" "00001847" "50" "4685" "0" "4685" "0" "c.4685T>C" "r.(?)" "p.(Ile1562Thr)" ""
"0000955500" "00001847" "50" "4685" "0" "4685" "0" "c.4685T>C" "r.(?)" "p.(Ile1562Thr)" ""
"0000955501" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" ""
"0000955502" "00001847" "90" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" ""
"0000955503" "00001847" "90" "4363" "0" "4363" "0" "c.4363T>C" "r.(?)" "p.(Cys1455Arg)" ""
"0000955504" "00001847" "90" "4363" "0" "4363" "0" "c.4363T>C" "r.(?)" "p.(Cys1455Arg)" ""
"0000955505" "00001847" "70" "4129" "-1" "4129" "-1" "c.4129-1G>A" "r.spl" "p.?" ""
"0000955506" "00001847" "50" "1230" "0" "1230" "0" "c.1230A>G" "r.(?)" "p.(Ile410Met)" ""
"0000955507" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" ""
"0000955508" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.[(2588g>c,2588_2590del)]" "p.[(Gly863Ala,Gly863del)]" ""
"0000955509" "00001847" "50" "4535" "0" "4537" "0" "c.4535_4537delinsAAA" "r.(?)" "p.(Pro1512_Gln1513delinsGlnLys)" ""
"0000955510" "00001847" "50" "4535" "0" "4537" "0" "c.4535_4537delinsAAA" "r.(?)" "p.(Pro1512_Gln1513delinsGlnLys)" ""
"0000955511" "00001847" "70" "5932" "0" "5932" "0" "c.5932A>G" "r.(?)" "p.(Lys1978Glu)" ""
"0000955512" "00001847" "90" "3208" "0" "3209" "0" "c.3208_3209insGT" "r.(?)" "p.(Leu1070ArgfsTer15)" ""
"0000955513" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.[(2588g>c,2588_2590del)]" "p.[(Gly863Ala,Gly863del)]" ""
"0000955514" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" ""
"0000955515" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[(5461_5714del,5461_5584del)]" "p.[(Thr1821Aspfs*6,Thr1821Valfs*13)]" ""
"0000955516" "00001847" "70" "1253" "0" "1253" "0" "c.1253T>C" "r.(?)" "p.(Phe418Ser)" ""
"0000955517" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[(5461_5714del,5461_5584del)]" "p.[(Thr1821Aspfs*6,Thr1821Valfs*13)]" ""
"0000955518" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" ""
"0000955519" "00001847" "90" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" ""
"0000955520" "00001847" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Ter)" ""
"0000955521" "00001847" "90" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" ""
"0000955522" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[(5461_5714del,5461_5584del)]" "p.[(Thr1821Aspfs*6,Thr1821Valfs*13)]" ""
"0000955523" "00001847" "70" "4539" "2" "4539" "2" "c.4539+2T>G" "r.spl" "p.?" ""
"0000955524" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" ""
"0000955525" "00001847" "90" "2239" "0" "2239" "0" "c.2239del" "r.(?)" "p.(Leu747CysfsTer40)" ""
"0000955526" "00001847" "50" "293" "0" "293" "0" "c.293A>G" "r.(?)" "p.(Asn98Ser)" ""
"0000955527" "00001847" "90" "4539" "2028" "4539" "2028" "c.4539+2028C>T" "r.[(=,4539_4540ins4539+1891_4540-2162)]" "p.[(=,Arg1514Leufs*36)]" ""
"0000955528" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.[(2588g>c,2588_2590del)]" "p.[(Gly863Ala,Gly863del)]" ""
"0000955529" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.[(2588g>c,2588_2590del)]" "p.[(Gly863Ala,Gly863del)]" ""
"0000955530" "00001847" "90" "4537" "0" "4537" "0" "c.4537dup" "r.(?)" "p.(Gln1513ProfsTer42)" ""
"0000955531" "00001847" "90" "161" "0" "161" "0" "c.161G>A" "r.[(161_302del,161g>a)]" "p.[(Cys54Serfs*14,Cys54Tyr)]" ""
"0000955532" "00001847" "90" "3056" "0" "3056" "0" "c.3056C>T" "r.(?)" "p.(Thr1019Met)" ""
"0000955533" "00001847" "90" "3056" "0" "3056" "0" "c.3056C>T" "r.(?)" "p.(Thr1019Met)" ""
"0000955534" "00001847" "90" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" ""
"0000955535" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[(5461_5714del,5461_5584del)]" "p.[(Thr1821Aspfs*6,Thr1821Valfs*13)]" ""
"0000955536" "00001847" "90" "1760" "0" "1760" "0" "c.1760G>A" "r.spl?" "p.(Arg587Lys)" ""
"0000955537" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.[(2588g>c,2588_2590del)]" "p.[(Gly863Ala,Gly863del)]" ""
"0000955538" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" ""
"0000955539" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" ""
"0000955540" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" ""
"0000955541" "00001847" "90" "161" "0" "161" "0" "c.161G>A" "r.[(161_302del,161g>a)]" "p.[(Cys54Serfs*14,Cys54Tyr)]" ""
"0000955542" "00001847" "90" "4195" "0" "4195" "0" "c.4195G>A" "r.(?)" "p.(Glu1399Lys)" ""
"0000955543" "00001847" "90" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" ""
"0000955544" "00001847" "90" "3292" "0" "3292" "0" "c.3292C>T" "r.(?)" "p.(Arg1098Cys)" ""
"0000955545" "00001847" "90" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" ""
"0000955546" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" ""
"0000955547" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" ""
"0000955548" "00001847" "90" "1957" "0" "1957" "0" "c.1957C>T" "r.(?)" "p.(Arg653Cys)" ""
"0000955549" "00001847" "70" "6729" "5" "6729" "19" "c.6729+5_6729+19del" "r.(6480_6729del)" "p.(Phe2161Cysfs*3)" ""
"0000955550" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[(5461_5714del,5461_5584del)]" "p.[(Thr1821Aspfs*6,Thr1821Valfs*13)]" ""
"0000955551" "00001847" "50" "4775" "0" "4775" "0" "c.4775G>A" "r.spl?" "p.(Gly1592Asp)" ""
"0000955552" "00001847" "50" "4775" "0" "4775" "0" "c.4775G>A" "r.spl?" "p.(Gly1592Asp)" ""
"0000955553" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[(5461_5714del,5461_5584del)]" "p.[(Thr1821Aspfs*6,Thr1821Valfs*13)]" ""
"0000955554" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[(5461_5714del,5461_5584del)]" "p.[(Thr1821Aspfs*6,Thr1821Valfs*13)]" ""
"0000955555" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" ""
"0000955556" "00001847" "70" "2791" "0" "2791" "0" "c.2791G>A" "r.(?)" "p.(Val931Met)" ""
"0000955557" "00001847" "90" "3191" "-1" "3191" "-1" "c.3191-1G>T" "r.spl" "p.?" ""
"0000955558" "00001847" "70" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" ""
"0000955559" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.[(2588g>c,2588_2590del)]" "p.[(Gly863Ala,Gly863del)]" ""
"0000955560" "00001847" "50" "185" "0" "185" "0" "c.185C>T" "r.(?)" "p.(Pro62Leu)" ""
"0000955561" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" ""
"0000955562" "00001847" "90" "1906" "0" "1906" "0" "c.1906C>T" "r.(?)" "p.(Gln636Ter)" ""
"0000955563" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[(5461_5714del,5461_5584del)]" "p.[(Thr1821Aspfs*6,Thr1821Valfs*13)]" ""
"0000955564" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000955565" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" ""
"0000955566" "00001847" "90" "3289" "0" "3289" "0" "c.3289A>T" "r.(?)" "p.(Arg1097Ter)" ""
"0000955567" "00001847" "90" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" ""
"0000955568" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[(5461_5714del,5461_5584del)]" "p.[(Thr1821Aspfs*6,Thr1821Valfs*13)]" ""
"0000955569" "00001847" "90" "3191" "-1" "3191" "-1" "c.3191-1G>T" "r.spl" "p.?" ""
"0000955570" "00001847" "90" "5585" "-1" "5585" "-1" "c.5585-1G>A" "r.spl" "p.?" ""
"0000955571" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.[(2588g>c,2588_2590del)]" "p.[(Gly863Ala,Gly863del)]" ""
"0000955572" "00001847" "90" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" ""
"0000955573" "00001847" "90" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" ""
"0000955574" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.[(2588g>c,2588_2590del)]" "p.[(Gly863Ala,Gly863del)]" ""
"0000955575" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" ""
"0000955576" "00001847" "90" "1819" "0" "1819" "0" "c.1819G>A" "r.(?)" "p.(Gly607Arg)" ""
"0000955577" "00001847" "50" "2861" "0" "2861" "0" "c.2861A>C" "r.(?)" "p.(Tyr954Ser)" ""
"0000955578" "00001847" "90" "1317" "0" "1317" "0" "c.1317G>A" "r.(?)" "p.(Trp439Ter)" ""
"0000955579" "00001847" "70" "1715" "0" "1715" "0" "c.1715G>A" "r.(?)" "p.(Arg572Gln)" ""
"0000955580" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[(5461_5714del,5461_5584del)]" "p.[(Thr1821Aspfs*6,Thr1821Valfs*13)]" ""
"0000955581" "00001847" "90" "4069" "0" "4069" "0" "c.4069G>A" "r.(?)" "p.(Ala1357Thr)" ""
"0000955582" "00001847" "90" "4069" "0" "4069" "0" "c.4069G>A" "r.(?)" "p.(Ala1357Thr)" ""
"0000955583" "00001847" "90" "5313" "-2" "5313" "-2" "c.5313-2A>T" "r.spl" "p.?" ""
"0000955584" "00001847" "90" "3259" "0" "3259" "0" "c.3259G>A" "r.(?)" "p.(Glu1087Lys)" ""
"0000955585" "00001847" "70" "1335" "0" "1335" "0" "c.1335C>G" "r.(?)" "p.(Ser445Arg)" ""
"0000955586" "00001847" "70" "1715" "0" "1715" "0" "c.1715G>A" "r.(?)" "p.(Arg572Gln)" ""
"0000955587" "00001847" "90" "4253" "5" "4253" "5" "c.4253+5G>T" "r.[(4129_4253del,=)]" "p.[(Ile1377Hisfs*3,=)]" ""
"0000955588" "00001847" "90" "2041" "0" "2041" "0" "c.2041C>T" "r.(?)" "p.(Arg681Ter)" ""
"0000955589" "00001847" "90" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" ""
"0000955590" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" ""
"0000955591" "00001847" "50" "1433" "0" "1433" "0" "c.1433T>C" "r.(?)" "p.(Ile478Thr)" ""
"0000955592" "00001847" "90" "2345" "0" "2345" "0" "c.2345G>A" "r.(?)" "p.(Trp782Ter)" ""
"0000955593" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" ""
"0000955594" "00001847" "90" "4537" "0" "4537" "0" "c.4537dup" "r.(?)" "p.(Gln1513ProfsTer42)" ""
"0000955595" "00001847" "90" "161" "0" "161" "0" "c.161G>A" "r.[(161_302del,161g>a)]" "p.[(Cys54Serfs*14,Cys54Tyr)]" ""
"0000955596" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" ""
"0000955597" "00001847" "90" "3323" "0" "3323" "0" "c.3323G>A" "r.(?)" "p.(Arg1108His)" ""
"0000955598" "00001847" "90" "4537" "0" "4537" "0" "c.4537dup" "r.(?)" "p.(Gln1513ProfsTer42)" ""
"0000955599" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" ""
"0000955600" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000955601" "00001847" "90" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071CysfsTer14)" ""
"0000955602" "00001847" "70" "1335" "0" "1335" "0" "c.1335C>G" "r.(?)" "p.(Ser445Arg)" ""
"0000955603" "00001847" "90" "4793" "0" "4793" "0" "c.4793C>A" "r.(?)" "p.(Ala1598Asp)" ""
"0000955604" "00001847" "90" "2966" "0" "2966" "0" "c.2966T>C" "r.(?)" "p.(Val989Ala)" ""
"0000955605" "00001847" "90" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" ""
"0000955606" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[(5461_5714del,5461_5584del)]" "p.[(Thr1821Aspfs*6,Thr1821Valfs*13)]" ""
"0000955607" "00001847" "70" "2791" "0" "2791" "0" "c.2791G>A" "r.(?)" "p.(Val931Met)" ""
"0000955608" "00001847" "90" "1317" "0" "1317" "0" "c.1317G>A" "r.(?)" "p.(Trp439Ter)" ""
"0000955609" "00001847" "90" "5018" "2" "5018" "2" "c.5018+2T>C" "r.spl" "p.?" ""
"0000955610" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[(=,5585_5714del)]" "p.[(=,Glu1863Leufs*33)]" ""
"0000955611" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[(5461_5714del,5461_5584del)]" "p.[(Thr1821Aspfs*6,Thr1821Valfs*13)]" ""
"0000955612" "00001847" "90" "4462" "0" "4462" "0" "c.4462T>C" "r.(?)" "p.(Cys1488Arg)" ""
"0000955613" "00001847" "90" "885" "0" "885" "0" "c.885del" "r.(?)" "p.(Leu296CysfsTer4)" ""
"0000955614" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" ""
"0000955615" "00001847" "90" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" ""
"0000955616" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000955617" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[(5461_5714del,5461_5584del)]" "p.[(Thr1821Aspfs*6,Thr1821Valfs*13)]" ""
"0000955618" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[(5461_5714del,5461_5584del)]" "p.[(Thr1821Aspfs*6,Thr1821Valfs*13)]" ""
"0000955619" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000955620" "00001847" "90" "2971" "0" "2971" "0" "c.2971G>C" "r.(?)" "p.(Gly991Arg)" ""
"0000955621" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.[(2588g>c,2588_2590del)]" "p.[(Gly863Ala,Gly863del)]" ""
"0000955622" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000955623" "00001847" "90" "1957" "0" "1957" "0" "c.1957C>T" "r.(?)" "p.(Arg653Cys)" ""
"0000955624" "00001847" "50" "4685" "0" "4685" "0" "c.4685T>C" "r.(?)" "p.(Ile1562Thr)" ""
"0000955625" "00001847" "90" "1906" "0" "1906" "0" "c.1906C>T" "r.(?)" "p.(Gln636Ter)" ""
"0000955626" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" ""
"0000955627" "00001847" "90" "4462" "0" "4462" "0" "c.4462T>C" "r.(?)" "p.(Cys1488Arg)" ""
"0000955628" "00001847" "90" "1648" "0" "1648" "0" "c.1648G>A" "r.(?)" "p.(Gly550Arg)" ""
"0000955629" "00001847" "90" "6658" "0" "6658" "0" "c.6658C>T" "r.(?)" "p.(Gln2220Ter)" ""
"0000955630" "00001847" "90" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" ""
"0000955631" "00001847" "50" "4253" "43" "4253" "43" "c.4253+43G>A" "r.[(=,4129_4253del)]" "p.[(=,Ile1377Hisfs*3)]" ""
"0000955632" "00001847" "90" "5196" "1" "5196" "1" "c.5196+1G>A" "r.spl" "p.?" ""
"0000955633" "00001847" "90" "1957" "0" "1957" "0" "c.1957C>T" "r.(?)" "p.(Arg653Cys)" ""
"0000955634" "00001847" "90" "1957" "0" "1957" "0" "c.1957C>T" "r.(?)" "p.(Arg653Cys)" ""
"0000955635" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" ""
"0000955636" "00001847" "50" "2384" "0" "2384" "0" "c.2384G>A" "r.spl?" "p.(Ser795Asn)" ""
"0000955637" "00001847" "90" "223" "0" "223" "0" "c.223T>G" "r.(?)" "p.(Cys75Gly)" ""
"0000955638" "00001847" "90" "223" "0" "223" "0" "c.223T>G" "r.(?)" "p.(Cys75Gly)" ""
"0000955639" "00001847" "90" "4981" "0" "4981" "0" "c.4981del" "r.(?)" "p.(Leu1661Ter)" ""
"0000955640" "00001847" "50" "4685" "0" "4685" "0" "c.4685T>C" "r.(?)" "p.(Ile1562Thr)" ""
"0000955641" "00001847" "90" "1938" "-1" "1938" "-1" "c.1938-1G>A" "r.spl" "p.?" ""
"0000955642" "00001847" "90" "1805" "0" "1805" "0" "c.1805G>A" "r.(?)" "p.(Arg602Gln)" ""
"0000955643" "00001847" "50" "4685" "0" "4685" "0" "c.4685T>C" "r.(?)" "p.(Ile1562Thr)" ""
"0000955644" "00001847" "90" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973Ter)" ""
"0000955645" "00001847" "90" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071CysfsTer14)" ""
"0000955646" "00001847" "90" "1557" "0" "1557" "0" "c.1557C>A" "r.spl?" "p.(Cys519Ter)" ""
"0000955647" "00001847" "90" "3292" "0" "3292" "0" "c.3292C>T" "r.(?)" "p.(Arg1098Cys)" ""
"0000955648" "00001847" "70" "3050" "1" "3050" "1" "c.3050+1G>C" "r.spl" "p.?" ""
"0000955649" "00001847" "70" "1519" "0" "1519" "0" "c.1519G>T" "r.(?)" "p.(Asp507Tyr)" ""
"0000955650" "00001847" "90" "4319" "0" "4319" "0" "c.4319T>C" "r.(?)" "p.(Phe1440Ser)" ""
"0000955651" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.[(2588g>c,2588_2590del)]" "p.[(Gly863Ala,Gly863del)]" ""
"0000955652" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[(5461_5714del,5461_5584del)]" "p.[(Thr1821Aspfs*6,Thr1821Valfs*13)]" ""
"0000955653" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.[(2588g>c,2588_2590del)]" "p.[(Gly863Ala,Gly863del)]" ""
"0000955654" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.[(2588g>c,2588_2590del)]" "p.[(Gly863Ala,Gly863del)]" ""
"0000955655" "00001847" "70" "1037" "0" "1037" "0" "c.1037A>C" "r.(?)" "p.(Lys346Thr)" ""
"0000955656" "00001847" "50" "1817" "0" "1817" "0" "c.1817G>A" "r.(?)" "p.(Gly606Asp)" ""
"0000955657" "00001847" "70" "3398" "0" "3398" "0" "c.3398T>C" "r.(?)" "p.(Ile1133Thr)" ""
"0000955658" "00001847" "70" "1726" "0" "1726" "0" "c.1726G>C" "r.(?)" "p.(Asp576His)" ""
"0000955659" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000955660" "00001847" "50" "2522" "0" "2522" "0" "c.2522A>C" "r.(?)" "p.(Gln841Pro)" ""
"0000955661" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" ""
"0000955662" "00001847" "50" "3522" "0" "3522" "0" "c.3522G>A" "r.(?)" "p.(Glu1174=)" ""
"0000955663" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" ""
"0000955664" "00001847" "70" "6479" "1" "6479" "1" "c.6479+1G>A" "r.spl" "p.?" ""
"0000955665" "00001847" "70" "6479" "1" "6479" "1" "c.6479+1G>A" "r.spl" "p.?" ""
"0000955666" "00001847" "90" "3056" "0" "3056" "0" "c.3056C>T" "r.(?)" "p.(Thr1019Met)" ""
"0000955667" "00001847" "90" "3056" "0" "3056" "0" "c.3056C>T" "r.(?)" "p.(Thr1019Met)" ""
"0000955668" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[(5461_5714del,5461_5584del)]" "p.[(Thr1821Aspfs*6,Thr1821Valfs*13)]" ""
"0000955669" "00001847" "90" "4222" "0" "4222" "0" "c.4222T>C" "r.(?)" "p.(Trp1408Arg)" ""
"0000955670" "00001847" "90" "4222" "0" "4222" "0" "c.4222T>C" "r.(?)" "p.(Trp1408Arg)" ""
"0000955671" "00001847" "90" "2966" "0" "2966" "0" "c.2966T>C" "r.(?)" "p.(Val989Ala)" ""
"0000955672" "00001847" "90" "1317" "0" "1317" "0" "c.1317G>A" "r.(?)" "p.(Trp439Ter)" ""
"0000955673" "00001847" "50" "4727" "0" "4727" "0" "c.4727T>G" "r.(?)" "p.(Leu1576Arg)" ""
"0000955674" "00001847" "90" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" ""
"0000955675" "00001847" "90" "2023" "0" "2023" "0" "c.2023G>A" "r.(?)" "p.(Val675Ile)" ""
"0000955676" "00001847" "50" "1019" "0" "1019" "0" "c.1019A>C" "r.(?)" "p.(Tyr340Ser)" ""
"0000955677" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" ""
"0000955678" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" ""
"0000955679" "00001847" "90" "6658" "0" "6658" "0" "c.6658C>T" "r.(?)" "p.(Gln2220Ter)" ""
"0000955680" "00001847" "50" "3370" "0" "3370" "0" "c.3370G>T" "r.(?)" "p.(Asp1124Tyr)" ""
"0000955681" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.[(2588g>c,2588_2590del)]" "p.[(Gly863Ala,Gly863del)]" ""
"0000955682" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000955683" "00001847" "90" "2966" "0" "2966" "0" "c.2966T>C" "r.(?)" "p.(Val989Ala)" ""
"0000955684" "00001847" "90" "2971" "0" "2971" "0" "c.2971G>C" "r.(?)" "p.(Gly991Arg)" ""
"0000955685" "00001847" "90" "5018" "2" "5018" "2" "c.5018+2T>C" "r.spl" "p.?" ""
"0000955686" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[(5461_5714del,5461_5584del)]" "p.[(Thr1821Aspfs*6,Thr1821Valfs*13)]" ""
"0000955687" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.[(2588g>c,2588_2590del)]" "p.[(Gly863Ala,Gly863del)]" ""
"0000955688" "00001847" "90" "4539" "2028" "4539" "2028" "c.4539+2028C>T" "r.[(=,4539_4540ins4539+1891_4540-2162)]" "p.[(=,Arg1514Leufs*36)]" ""
"0000955689" "00001847" "70" "6729" "5" "6729" "19" "c.6729+5_6729+19del" "r.(6480_6729del)" "p.(Phe2161Cysfs*3)" ""
"0000955690" "00001847" "90" "1317" "0" "1317" "0" "c.1317G>A" "r.(?)" "p.(Trp439Ter)" ""
"0000955691" "00001847" "70" "4070" "0" "4070" "0" "c.4070C>A" "r.(?)" "p.(Ala1357Glu)" ""
"0000955692" "00001847" "90" "1906" "0" "1906" "0" "c.1906C>T" "r.(?)" "p.(Gln636Ter)" ""
"0000955693" "00001847" "90" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" ""
"0000955694" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.[(2588g>c,2588_2590del)]" "p.[(Gly863Ala,Gly863del)]" ""
"0000955695" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[(5461_5714del,5461_5584del)]" "p.[(Thr1821Aspfs*6,Thr1821Valfs*13)]" ""
"0000955696" "00001847" "90" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" ""
"0000955697" "00001847" "90" "3364" "0" "3364" "0" "c.3364G>A" "r.(?)" "p.(Glu1122Lys)" ""
"0000955698" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000955699" "00001847" "90" "3259" "0" "3259" "0" "c.3259G>A" "r.(?)" "p.(Glu1087Lys)" ""
"0000955700" "00001847" "90" "4537" "0" "4537" "0" "c.4537del" "r.(?)" "p.(Gln1513ArgfsTer13)" ""
"0000955701" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.[(2588g>c,2588_2590del)]" "p.[(Gly863Ala,Gly863del)]" ""
"0000955702" "00001847" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Ter)" ""
"0000955703" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" ""
"0000955704" "00001847" "90" "4222" "0" "4222" "0" "c.4222T>C" "r.(?)" "p.(Trp1408Arg)" ""
"0000955705" "00001847" "70" "1726" "0" "1726" "0" "c.1726G>C" "r.(?)" "p.(Asp576His)" ""
"0000955706" "00001847" "70" "4326" "0" "4326" "0" "c.4326C>A" "r.(?)" "p.(Asn1442Lys)" ""
"0000955707" "00001847" "90" "4352" "1" "4352" "1" "c.4352+1G>A" "r.spl" "p.?" ""
"0000955708" "00001847" "90" "4981" "0" "4981" "0" "c.4981del" "r.(?)" "p.(Leu1661Ter)" ""
"0000955709" "00001847" "90" "4253" "4" "4253" "4" "c.4253+4C>T" "r.(4129_4253del)" "p.(Ile1377Hisfs*3)" ""
"0000955710" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" ""
"0000955711" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000955712" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.[(2588g>c,2588_2590del)]" "p.[(Gly863Ala,Gly863del)]" ""
"0000955713" "00001847" "90" "1906" "0" "1906" "0" "c.1906C>T" "r.(?)" "p.(Gln636Ter)" ""
"0000955714" "00001847" "50" "3438" "0" "3438" "0" "c.3438C>G" "r.(?)" "p.(Phe1146Leu)" ""
"0000955715" "00001847" "70" "1757" "0" "1757" "0" "c.1757A>G" "r.(?)" "p.(Asp586Gly)" ""
"0000955716" "00001847" "90" "1648" "0" "1648" "0" "c.1648G>T" "r.(?)" "p.(Gly550Ter)" ""
"0000955717" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.[(2588g>c,2588_2590del)]" "p.[(Gly863Ala,Gly863del)]" ""
"0000955718" "00001847" "90" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" ""
"0000955719" "00001847" "90" "161" "0" "161" "0" "c.161G>A" "r.[(161_302del,161g>a)]" "p.[(Cys54Serfs*14,Cys54Tyr)]" ""
"0000955720" "00001847" "70" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" ""
"0000955721" "00001847" "90" "5196" "1" "5196" "1" "c.5196+1G>A" "r.spl" "p.?" ""
"0000955722" "00001847" "90" "1819" "0" "1819" "0" "c.1819G>A" "r.(?)" "p.(Gly607Arg)" ""
"0000955723" "00001847" "90" "1648" "0" "1648" "0" "c.1648G>T" "r.(?)" "p.(Gly550Ter)" ""
"0000955724" "00001847" "90" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" ""
"0000955725" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000955726" "00001847" "90" "4222" "0" "4222" "0" "c.4222T>C" "r.(?)" "p.(Trp1408Arg)" ""
"0000955727" "00001847" "70" "3305" "0" "3305" "0" "c.3305A>T" "r.(?)" "p.(Asp1102Val)" ""
"0000955728" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.[(2588g>c,2588_2590del)]" "p.[(Gly863Ala,Gly863del)]" ""
"0000955729" "00001847" "90" "3056" "0" "3056" "0" "c.3056C>T" "r.(?)" "p.(Thr1019Met)" ""
"0000955730" "00001847" "90" "180" "0" "180" "0" "c.180del" "r.(?)" "p.(Met61CysfsTer17)" ""
"0000955731" "00001847" "90" "180" "0" "180" "0" "c.180del" "r.(?)" "p.(Met61CysfsTer17)" ""
"0000955732" "00001847" "70" "4216" "0" "4216" "0" "c.4216C>T" "r.(?)" "p.(His1406Tyr)" ""
"0000955733" "00001847" "50" "1140" "0" "1140" "0" "c.1140T>A" "r.(?)" "p.(Asn380Lys)" ""
"0000955734" "00001847" "90" "1015" "0" "1015" "0" "c.1015T>G" "r.(?)" "p.(Trp339Gly)" ""
"0000955735" "00001847" "90" "3259" "0" "3259" "0" "c.3259G>A" "r.(?)" "p.(Glu1087Lys)" ""
"0000955736" "00001847" "50" "1140" "0" "1140" "0" "c.1140T>A" "r.(?)" "p.(Asn380Lys)" ""
"0000955737" "00001847" "90" "3081" "0" "3081" "0" "c.3081T>G" "r.(?)" "p.(Tyr1027Ter)" ""
"0000955738" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.[(2588g>c,2588_2590del)]" "p.[(Gly863Ala,Gly863del)]" ""
"0000955739" "00001847" "90" "1018" "0" "1018" "0" "c.1018T>C" "r.(?)" "p.(Tyr340His)" ""
"0000955740" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[(5461_5714del,5461_5584del)]" "p.[(Thr1821Aspfs*6,Thr1821Valfs*13)]" ""
"0000955741" "00001847" "50" "4552" "0" "4552" "0" "c.4552A>C" "r.(?)" "p.(Ser1518Arg)" ""
"0000955742" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" ""
"0000955743" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" ""
"0000955744" "00001847" "70" "5222" "0" "5232" "0" "c.5222_5232del" "r.(?)" "p.(Leu1741HisfsTer42)" ""
"0000955745" "00001847" "90" "859" "-9" "859" "-9" "c.859-9T>C" "r.[(=,859_1356del)]" "p.[(=,Phe287_Arg452del)]" ""
"0000955746" "00001847" "70" "3299" "0" "3299" "0" "c.3299T>A" "r.(?)" "p.(Ile1100Asn)" ""
"0000955747" "00001847" "70" "3064" "0" "3064" "0" "c.3064G>A" "r.(?)" "p.(Glu1022Lys)" ""
"0000955748" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[(5461_5714del,5461_5584del)]" "p.[(Thr1821Aspfs*6,Thr1821Valfs*13)]" ""
"0000955749" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[(5461_5714del,5461_5584del)]" "p.[(Thr1821Aspfs*6,Thr1821Valfs*13)]" ""
"0000955750" "00001847" "70" "3329" "-1" "3329" "-1" "c.3329-1G>A" "r.spl" "p.?" ""
"0000955751" "00001847" "50" "2942" "0" "2942" "0" "c.2942C>T" "r.(?)" "p.(Pro981Leu)" ""
"0000955752" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" ""
"0000955753" "00001847" "90" "2713" "0" "2713" "0" "c.2713del" "r.(?)" "p.(Glu905ArgfsTer27)" ""
"0000955754" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.[(2588g>c,2588_2590del)]" "p.[(Gly863Ala,Gly863del)]" ""
"0000955755" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[(5461_5714del,5461_5584del)]" "p.[(Thr1821Aspfs*6,Thr1821Valfs*13)]" ""
"0000955756" "00001847" "90" "4222" "0" "4222" "0" "c.4222T>C" "r.(?)" "p.(Trp1408Arg)" ""
"0000955757" "00001847" "50" "2510" "0" "2510" "0" "c.2510T>C" "r.(?)" "p.(Leu837Pro)" ""
"0000955758" "00001847" "90" "3259" "0" "3259" "0" "c.3259G>A" "r.(?)" "p.(Glu1087Lys)" ""
"0000955759" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.[(2588g>c,2588_2590del)]" "p.[(Gly863Ala,Gly863del)]" ""
"0000955760" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[(5461_5714del,5461_5584del)]" "p.[(Thr1821Aspfs*6,Thr1821Valfs*13)]" ""
"0000955761" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.[(2588g>c,2588_2590del)]" "p.[(Gly863Ala,Gly863del)]" ""
"0000955762" "00001847" "70" "1335" "0" "1335" "0" "c.1335C>G" "r.(?)" "p.(Ser445Arg)" ""
"0000955763" "00001847" "50" "2858" "0" "2858" "0" "c.2858T>C" "r.(?)" "p.(Phe953Ser)" ""
"0000955764" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000955765" "00001847" "90" "3081" "0" "3081" "0" "c.3081T>G" "r.(?)" "p.(Tyr1027Ter)" ""
"0000955766" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.[(2588g>c,2588_2590del)]" "p.[(Gly863Ala,Gly863del)]" ""
"0000955767" "00001847" "70" "2791" "0" "2791" "0" "c.2791G>A" "r.(?)" "p.(Val931Met)" ""
"0000955768" "00001847" "90" "4363" "0" "4363" "0" "c.4363T>C" "r.(?)" "p.(Cys1455Arg)" ""
"0000955769" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[(5461_5714del,5461_5584del)]" "p.[(Thr1821Aspfs*6,Thr1821Valfs*13)]" ""
"0000955770" "00001847" "90" "1834" "0" "1834" "0" "c.1834C>T" "r.(?)" "p.(Gln612Ter)" ""
"0000955771" "00001847" "90" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" ""
"0000955772" "00001847" "90" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" ""
"0000955773" "00001847" "50" "1538" "0" "1538" "0" "c.1538T>A" "r.(?)" "p.(Val513Asp)" ""
"0000955774" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.[(2588g>c,2588_2590del)]" "p.[(Gly863Ala,Gly863del)]" ""
"0000955775" "00001847" "50" "2861" "0" "2861" "0" "c.2861A>C" "r.(?)" "p.(Tyr954Ser)" ""
"0000955776" "00001847" "90" "4363" "0" "4363" "0" "c.4363T>C" "r.(?)" "p.(Cys1455Arg)" ""
"0000955777" "00001847" "90" "1906" "0" "1906" "0" "c.1906C>T" "r.(?)" "p.(Gln636Ter)" ""
"0000955778" "00001847" "90" "1906" "0" "1906" "0" "c.1906C>T" "r.(?)" "p.(Gln636Ter)" ""
"0000955779" "00001847" "90" "214" "0" "214" "0" "c.214G>A" "r.(?)" "p.(Gly72Arg)" ""
"0000955780" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" ""
"0000955781" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" ""
"0000955782" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.[(2588g>c,2588_2590del)]" "p.[(Gly863Ala,Gly863del)]" ""
"0000955783" "00001847" "90" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" ""
"0000955784" "00001847" "90" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" ""
"0000955785" "00001847" "90" "4253" "5" "4253" "5" "c.4253+5G>A" "r.(4129_4253del)" "p.(Ile1377Hisfs*3)" ""
"0000955786" "00001847" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Ter)" ""
"0000955787" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" ""
"0000955788" "00001847" "90" "4793" "0" "4793" "0" "c.4793C>A" "r.(?)" "p.(Ala1598Asp)" ""
"0000955789" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" ""
"0000955790" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" ""
"0000955791" "00001847" "90" "161" "0" "161" "0" "c.161G>A" "r.[(161_302del,161g>a)]" "p.[(Cys54Serfs*14,Cys54Tyr)]" ""
"0000955792" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[(5461_5714del,5461_5584del)]" "p.[(Thr1821Aspfs*6,Thr1821Valfs*13)]" ""
"0000955793" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[(5461_5714del,5461_5584del)]" "p.[(Thr1821Aspfs*6,Thr1821Valfs*13)]" ""
"0000955794" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[(5461_5714del,5461_5584del)]" "p.[(Thr1821Aspfs*6,Thr1821Valfs*13)]" ""
"0000955795" "00001847" "90" "4319" "0" "4319" "0" "c.4319T>C" "r.(?)" "p.(Phe1440Ser)" ""
"0000955796" "00001847" "70" "4926" "0" "4926" "0" "c.4926C>G" "r.(?)" "p.(Ser1642Arg)" ""
"0000955797" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" ""
"0000955798" "00001847" "90" "1381" "0" "1381" "0" "c.1381A>T" "r.(?)" "p.(Lys461Ter)" ""
"0000955799" "00001847" "90" "3259" "0" "3259" "0" "c.3259G>A" "r.(?)" "p.(Glu1087Lys)" ""
"0000955800" "00001847" "90" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071CysfsTer14)" ""
"0000955801" "00001847" "50" "3260" "0" "3260" "0" "c.3260A>G" "r.(?)" "p.(Glu1087Gly)" ""
"0000955802" "00001847" "90" "1891" "0" "1891" "0" "c.1891G>A" "r.(?)" "p.(Gly631Arg)" ""
"0000955803" "00001847" "90" "3259" "0" "3259" "0" "c.3259G>A" "r.(?)" "p.(Glu1087Lys)" ""
"0000955804" "00001847" "90" "3385" "0" "3385" "0" "c.3385C>T" "r.(?)" "p.(Arg1129Cys)" ""
"0000955805" "00001847" "90" "1957" "0" "1957" "0" "c.1957C>T" "r.(?)" "p.(Arg653Cys)" ""
"0000955806" "00001847" "90" "4363" "0" "4363" "0" "c.4363T>C" "r.(?)" "p.(Cys1455Arg)" ""
"0000955807" "00001847" "90" "3392" "0" "3393" "0" "c.3392_3393delinsG" "r.(?)" "p.(Ala1131GlyfsTer17)" ""
"0000955808" "00001847" "50" "1411" "0" "1411" "0" "c.1411G>A" "r.(?)" "p.(Glu471Lys)" ""
"0000955809" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[(=,5585_5714del)]" "p.[(=,Glu1863Leufs*33)]" ""
"0000955810" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.[(2588g>c,2588_2590del)]" "p.[(Gly863Ala,Gly863del)]" ""
"0000955811" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.[(2588g>c,2588_2590del)]" "p.[(Gly863Ala,Gly863del)]" ""
"0000955812" "00001847" "90" "5318" "0" "5318" "0" "c.5318C>T" "r.(?)" "p.(Ala1773Val)" ""
"0000955813" "00001847" "90" "454" "0" "454" "0" "c.454C>T" "r.(?)" "p.(Arg152Ter)" ""
"0000955814" "00001847" "90" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973Ter)" ""
"0000955815" "00001847" "90" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" ""
"0000955816" "00001847" "90" "1317" "0" "1317" "0" "c.1317G>A" "r.(?)" "p.(Trp439Ter)" ""
"0000955817" "00001847" "90" "3808" "0" "3808" "0" "c.3808G>T" "r.(?)" "p.(Glu1270Ter)" ""
"0000955818" "00001847" "90" "3808" "0" "3808" "0" "c.3808G>T" "r.(?)" "p.(Glu1270Ter)" ""
"0000955819" "00001847" "90" "3259" "0" "3259" "0" "c.3259G>A" "r.(?)" "p.(Glu1087Lys)" ""
"0000955820" "00001847" "70" "2813" "0" "2813" "0" "c.2813T>C" "r.(?)" "p.(Phe938Ser)" ""
"0000955821" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.[(2588g>c,2588_2590del)]" "p.[(Gly863Ala,Gly863del)]" ""
"0000955822" "00001847" "50" "2522" "0" "2522" "0" "c.2522A>C" "r.(?)" "p.(Gln841Pro)" ""
"0000955823" "00001847" "50" "2522" "0" "2522" "0" "c.2522A>C" "r.(?)" "p.(Gln841Pro)" ""
"0000955824" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.[(2588g>c,2588_2590del)]" "p.[(Gly863Ala,Gly863del)]" ""
"0000955825" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" ""
"0000955826" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" ""
"0000955827" "00001847" "90" "6658" "0" "6658" "0" "c.6658C>T" "r.(?)" "p.(Gln2220Ter)" ""
"0000955828" "00001847" "90" "1957" "0" "1957" "0" "c.1957C>T" "r.(?)" "p.(Arg653Cys)" ""
"0000955829" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" ""
"0000955830" "00001847" "90" "5018" "5" "5018" "5" "c.5018+5G>A" "r.(4849_5018del)" "p.(Val1617Alafs*113)" ""
"0000955831" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" ""
"0000955832" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.[(2588g>c,2588_2590del)]" "p.[(Gly863Ala,Gly863del)]" ""
"0000955833" "00001847" "50" "3481" "0" "3481" "0" "c.3481C>T" "r.(?)" "p.(Arg1161Cys)" ""
"0000955834" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.[(2588g>c,2588_2590del)]" "p.[(Gly863Ala,Gly863del)]" ""
"0000955835" "00001847" "90" "1957" "0" "1957" "0" "c.1957C>T" "r.(?)" "p.(Arg653Cys)" ""
"0000955836" "00001847" "70" "1715" "0" "1715" "0" "c.1715G>A" "r.(?)" "p.(Arg572Gln)" ""
"0000955837" "00001847" "70" "6729" "5" "6729" "19" "c.6729+5_6729+19del" "r.(6480_6729del)" "p.(Phe2161Cysfs*3)" ""
"0000955838" "00001847" "90" "4253" "5" "4253" "5" "c.4253+5G>T" "r.[(4129_4253del,=)]" "p.[(Ile1377Hisfs*3,=)]" ""
"0000955839" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" ""
"0000955840" "00001847" "90" "6658" "0" "6658" "0" "c.6658C>T" "r.(?)" "p.(Gln2220Ter)" ""
"0000955841" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000955842" "00001847" "90" "4316" "0" "4316" "0" "c.4316G>A" "r.(?)" "p.(Gly1439Asp)" ""
"0000955843" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.[(2588g>c,2588_2590del)]" "p.[(Gly863Ala,Gly863del)]" ""
"0000955844" "00001847" "90" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" ""
"0000955845" "00001847" "90" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" ""
"0000955846" "00001847" "50" "2686" "0" "2686" "0" "c.2686A>G" "r.(?)" "p.(Lys896Glu)" ""
"0000955847" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" ""
"0000955848" "00001847" "90" "21" "0" "21" "0" "c.21dup" "r.(?)" "p.(Gln8ThrfsTer46)" ""
"0000955849" "00001847" "90" "6119" "0" "6119" "0" "c.6119G>A" "r.(?)" "p.(Arg2040Gln)" ""
"0000955850" "00001847" "90" "6119" "0" "6119" "0" "c.6119G>A" "r.(?)" "p.(Arg2040Gln)" ""
"0000955851" "00001847" "90" "2966" "0" "2966" "0" "c.2966T>C" "r.(?)" "p.(Val989Ala)" ""
"0000955852" "00001847" "70" "5087" "0" "5087" "0" "c.5087G>A" "r.(?)" "p.(Ser1696Asn)" ""
"0000955853" "00001847" "70" "4532" "0" "4532" "0" "c.4532C>G" "r.(?)" "p.(Pro1511Arg)" ""
"0000955854" "00001847" "70" "4532" "0" "4532" "0" "c.4532C>G" "r.(?)" "p.(Pro1511Arg)" ""
"0000955855" "00001847" "70" "1903" "0" "1903" "0" "c.1903C>A" "r.(?)" "p.(Gln635Lys)" ""
"0000955856" "00001847" "90" "3898" "0" "3898" "0" "c.3898C>T" "r.(?)" "p.(Arg1300Ter)" ""
"0000955857" "00001847" "90" "1805" "0" "1805" "0" "c.1805G>A" "r.(?)" "p.(Arg602Gln)" ""
"0000955858" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.[(2588g>c,2588_2590del)]" "p.[(Gly863Ala,Gly863del)]" ""
"0000955859" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" ""
"0000955860" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.[(2588g>c,2588_2590del)]" "p.[(Gly863Ala,Gly863del)]" ""
"0000955861" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.[(2588g>c,2588_2590del)]" "p.[(Gly863Ala,Gly863del)]" ""
"0000955862" "00001847" "90" "1196" "0" "1196" "0" "c.1196del" "r.(?)" "p.(Leu399ArgfsTer13)" ""
"0000955863" "00001847" "90" "454" "0" "454" "0" "c.454C>T" "r.(?)" "p.(Arg152Ter)" ""
"0000955864" "00001847" "70" "3064" "0" "3064" "0" "c.3064G>A" "r.(?)" "p.(Glu1022Lys)" ""
"0000955865" "00001847" "50" "1292" "0" "1292" "0" "c.1292G>A" "r.(?)" "p.(Trp431Ter)" ""
"0000955866" "00001847" "50" "443" "-453" "443" "-453" "c.443-453T>C" "r.(?)" "p.(?)" ""
"0000955867" "00001847" "50" "443" "-453" "443" "-453" "c.443-453T>C" "r.(?)" "p.(?)" ""
"0000955868" "00001847" "70" "3064" "0" "3064" "0" "c.3064G>A" "r.(?)" "p.(Glu1022Lys)" ""
"0000955869" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" ""
"0000955870" "00001847" "90" "3364" "0" "3364" "0" "c.3364G>A" "r.(?)" "p.(Glu1122Lys)" ""
"0000955871" "00001847" "70" "1253" "0" "1253" "0" "c.1253T>C" "r.(?)" "p.(Phe418Ser)" ""
"0000955872" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[(5461_5714del,5461_5584del)]" "p.[(Thr1821Aspfs*6,Thr1821Valfs*13)]" ""
"0000955873" "00001847" "90" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" ""
"0000955874" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000955875" "00001847" "90" "3994" "0" "3994" "0" "c.3994C>T" "r.(?)" "p.(Gln1332Ter)" ""
"0000955876" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.[(2588g>c,2588_2590del)]" "p.[(Gly863Ala,Gly863del)]" ""
"0000955877" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000955878" "00001847" "70" "2813" "0" "2813" "0" "c.2813T>C" "r.(?)" "p.(Phe938Ser)" ""
"0000955879" "00001847" "90" "1906" "0" "1906" "0" "c.1906C>T" "r.(?)" "p.(Gln636Ter)" ""
"0000955880" "00001847" "90" "1069" "0" "1075" "0" "c.1069_1075del" "r.(?)" "p.(Asp357SerfsTer15)" ""
"0000955881" "00001847" "90" "1906" "0" "1906" "0" "c.1906C>T" "r.(?)" "p.(Gln636Ter)" ""
"0000955882" "00001847" "90" "1906" "0" "1906" "0" "c.1906C>T" "r.(?)" "p.(Gln636Ter)" ""
"0000955883" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" ""
"0000955884" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" ""
"0000955885" "00001847" "90" "1609" "0" "1609" "0" "c.1609C>T" "r.(?)" "p.(Arg537Cys)" ""
"0000955886" "00001847" "90" "1609" "0" "1609" "0" "c.1609C>T" "r.(?)" "p.(Arg537Cys)" ""
"0000955887" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" ""
"0000955888" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000955889" "00001847" "50" "2560" "0" "2560" "0" "c.2560G>A" "r.(?)" "p.(Ala854Thr)" ""
"0000955890" "00001847" "90" "1317" "0" "1317" "0" "c.1317G>A" "r.(?)" "p.(Trp439Ter)" ""
"0000955891" "00001847" "90" "1317" "0" "1317" "0" "c.1317G>A" "r.(?)" "p.(Trp439Ter)" ""
"0000955892" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" ""
"0000955893" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" ""
"0000955894" "00001847" "90" "1819" "0" "1819" "0" "c.1819G>A" "r.(?)" "p.(Gly607Arg)" ""
"0000955895" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" ""
"0000955896" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" ""
"0000955897" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.[(2588g>c,2588_2590del)]" "p.[(Gly863Ala,Gly863del)]" ""
"0000955898" "00001847" "50" "4364" "0" "4364" "0" "c.4364G>T" "r.(?)" "p.(Cys1455Phe)" ""
"0000955899" "00001847" "90" "4537" "0" "4537" "0" "c.4537dup" "r.(?)" "p.(Gln1513ProfsTer42)" ""
"0000955900" "00001847" "90" "4637" "0" "4637" "0" "c.4637T>G" "r.spl?" "p.(Leu1546Ter)" ""
"0000955901" "00001847" "90" "4637" "0" "4637" "0" "c.4637T>G" "r.spl?" "p.(Leu1546Ter)" ""
"0000955902" "00001847" "90" "1906" "0" "1906" "0" "c.1906C>T" "r.(?)" "p.(Gln636Ter)" ""
"0000955903" "00001847" "90" "1906" "0" "1906" "0" "c.1906C>T" "r.(?)" "p.(Gln636Ter)" ""
"0000955904" "00001847" "70" "4463" "0" "4463" "0" "c.4463G>T" "r.(?)" "p.(Cys1488Phe)" ""
"0000955905" "00001847" "90" "5196" "1" "5196" "1" "c.5196+1G>A" "r.spl" "p.?" ""
"0000955906" "00001847" "90" "454" "0" "454" "0" "c.454C>T" "r.(?)" "p.(Arg152Ter)" ""
"0000955907" "00001847" "50" "5584" "0" "5584" "0" "c.5584G>A" "r.spl?" "p.(Gly1862Ser)" ""
"0000955908" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" ""
"0000955909" "00001847" "90" "3259" "0" "3259" "0" "c.3259G>A" "r.(?)" "p.(Glu1087Lys)" ""
"0000955910" "00001847" "90" "3289" "0" "3289" "0" "c.3289A>T" "r.(?)" "p.(Arg1097Ter)" ""
"0000955911" "00001847" "70" "1253" "0" "1253" "0" "c.1253T>C" "r.(?)" "p.(Phe418Ser)" ""
"0000955912" "00001847" "90" "859" "-9" "859" "-9" "c.859-9T>C" "r.[(=,859_1356del)]" "p.[(=,Phe287_Arg452del)]" ""
"0000955913" "00001847" "70" "3380" "0" "3380" "0" "c.3380G>A" "r.(?)" "p.(Gly1127Glu)" ""
"0000955914" "00001847" "70" "3380" "0" "3380" "0" "c.3380G>A" "r.(?)" "p.(Gly1127Glu)" ""
"0000955915" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[(5461_5714del,5461_5584del)]" "p.[(Thr1821Aspfs*6,Thr1821Valfs*13)]" ""
"0000955916" "00001847" "70" "1531" "0" "1531" "0" "c.1531C>T" "r.(?)" "p.(Arg511Cys)" ""
"0000955917" "00001847" "70" "1531" "0" "1531" "0" "c.1531C>T" "r.(?)" "p.(Arg511Cys)" ""
"0000955918" "00001847" "90" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" ""
"0000955919" "00001847" "70" "1874" "0" "1912" "0" "c.1874_1912del" "r.(?)" "p.(Gln625_Met637del)" ""
"0000955920" "00001847" "90" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071CysfsTer14)" ""
"0000955921" "00001847" "50" "302" "5" "302" "5" "c.302+5G>C" "r.(?)" "p.(?)" ""
"0000955922" "00001847" "90" "3259" "0" "3259" "0" "c.3259G>T" "r.(?)" "p.(Glu1087Ter)" ""
"0000955923" "00001847" "90" "2041" "0" "2041" "0" "c.2041C>T" "r.(?)" "p.(Arg681Ter)" ""
"0000955924" "00001847" "90" "2160" "2" "2160" "2" "c.2160+2T>G" "r.spl" "p.?" ""
"0000955925" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" ""
"0000955926" "00001847" "50" "5297" "0" "5297" "0" "c.5297T>C" "r.(?)" "p.(Leu1766Pro)" ""
"0000955927" "00001847" "70" "5413" "0" "5413" "0" "c.5413A>G" "r.(?)" "p.(Asn1805Asp)" ""
"0000955928" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" ""
"0000955929" "00001847" "90" "6658" "0" "6658" "0" "c.6658C>T" "r.(?)" "p.(Gln2220Ter)" ""
"0000955930" "00001847" "90" "6658" "0" "6658" "0" "c.6658C>T" "r.(?)" "p.(Gln2220Ter)" ""
"0000955931" "00001847" "50" "1964" "0" "1964" "0" "c.1964T>G" "r.(?)" "p.(Phe655Cys)" ""
"0000955932" "00001847" "30" "3329" "-17" "3329" "-17" "c.3329-17T>G" "r.(?)" "p.(?)" ""
"0000955933" "00001847" "90" "6317" "0" "6317" "0" "c.6317G>A" "r.(?)" "p.(Arg2106His)" ""
"0000955934" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" ""
"0000955935" "00001847" "90" "1937" "1" "1937" "1" "c.1937+1G>A" "r.spl" "p.?" ""
"0000955936" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.[(2588g>c,2588_2590del)]" "p.[(Gly863Ala,Gly863del)]" ""
"0000955937" "00001847" "70" "719" "0" "719" "0" "c.719T>G" "r.(?)" "p.(Ile240Arg)" ""
"0000955938" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" ""
"0000955939" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" ""
"0000955940" "00001847" "70" "3482" "0" "3482" "0" "c.3482G>A" "r.(?)" "p.(Arg1161His)" ""
"0000955941" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000955942" "00001847" "90" "2300" "0" "2300" "0" "c.2300T>A" "r.(?)" "p.(Val767Asp)" ""
"0000955943" "00001847" "90" "6658" "0" "6658" "0" "c.6658C>T" "r.(?)" "p.(Gln2220Ter)" ""
"0000955944" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000955945" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[(=,5585_5714del)]" "p.[(=,Glu1863Leufs*33)]" ""
"0000955946" "00001847" "70" "1253" "0" "1253" "0" "c.1253T>C" "r.(?)" "p.(Phe418Ser)" ""
"0000955947" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000955948" "00001847" "90" "3364" "0" "3364" "0" "c.3364G>A" "r.(?)" "p.(Glu1122Lys)" ""
"0000955949" "00001847" "90" "4537" "0" "4537" "0" "c.4537del" "r.(?)" "p.(Gln1513ArgfsTer13)" ""
"0000955950" "00001847" "70" "1715" "0" "1715" "0" "c.1715G>A" "r.(?)" "p.(Arg572Gln)" ""
"0000955951" "00001847" "90" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" ""
"0000955952" "00001847" "90" "4793" "0" "4793" "0" "c.4793C>A" "r.(?)" "p.(Ala1598Asp)" ""
"0000955953" "00001847" "90" "52" "0" "52" "0" "c.52C>T" "r.(?)" "p.(Arg18Trp)" ""
"0000955954" "00001847" "50" "4468" "0" "4468" "0" "c.4468T>C" "r.(?)" "p.(Cys1490Arg)" ""
"0000955955" "00001847" "50" "4468" "0" "4468" "0" "c.4468T>C" "r.(?)" "p.(Cys1490Arg)" ""
"0000955956" "00001847" "70" "2617" "0" "2617" "0" "c.2617T>C" "r.(?)" "p.(Phe873Leu)" ""
"0000955957" "00001847" "90" "2966" "0" "2966" "0" "c.2966T>C" "r.(?)" "p.(Val989Ala)" ""
"0000955958" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[(5461_5714del,5461_5584del)]" "p.[(Thr1821Aspfs*6,Thr1821Valfs*13)]" ""
"0000955959" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.[(2588g>c,2588_2590del)]" "p.[(Gly863Ala,Gly863del)]" ""
"0000955960" "00001847" "90" "1317" "0" "1317" "0" "c.1317G>A" "r.(?)" "p.(Trp439Ter)" ""
"0000955961" "00001847" "90" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" ""
"0000955962" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[(5461_5714del,5461_5584del)]" "p.[(Thr1821Aspfs*6,Thr1821Valfs*13)]" ""
"0000955963" "00001847" "90" "1648" "0" "1648" "0" "c.1648G>T" "r.(?)" "p.(Gly550Ter)" ""
"0000955964" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[(5461_5714del,5461_5584del)]" "p.[(Thr1821Aspfs*6,Thr1821Valfs*13)]" ""
"0000955965" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" ""
"0000955966" "00001847" "90" "247" "0" "248" "0" "c.247_248dup" "r.(?)" "p.(Gln83HisfsTer33)" ""
"0000955967" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" ""
"0000955968" "00001847" "70" "1519" "0" "1519" "0" "c.1519G>T" "r.(?)" "p.(Asp507Tyr)" ""
"0000955969" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" ""
"0000955970" "00001847" "90" "5312" "1" "5312" "1" "c.5312+1G>A" "r.spl" "p.?" ""
"0000955971" "00001847" "70" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" ""
"0000955972" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" ""
"0000955973" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.[(2588g>c,2588_2590del)]" "p.[(Gly863Ala,Gly863del)]" ""
"0000955974" "00001847" "90" "1819" "0" "1819" "0" "c.1819G>A" "r.(?)" "p.(Gly607Arg)" ""
"0000955975" "00001847" "70" "1715" "0" "1715" "0" "c.1715G>A" "r.(?)" "p.(Arg572Gln)" ""
"0000955976" "00001847" "90" "1957" "0" "1957" "0" "c.1957C>T" "r.(?)" "p.(Arg653Cys)" ""
"0000955977" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000955978" "00001847" "90" "5381" "0" "5381" "0" "c.5381C>A" "r.(?)" "p.(Ala1794Asp)" ""
"0000955979" "00001847" "70" "4739" "0" "4739" "0" "c.4739T>C" "r.(?)" "p.(Leu1580Ser)" ""
"0000955980" "00001847" "50" "1913" "0" "1913" "0" "c.1913C>T" "r.(?)" "p.(Pro638Leu)" ""
"0000955981" "00001847" "50" "2522" "0" "2522" "0" "c.2522A>C" "r.(?)" "p.(Gln841Pro)" ""
"0000955982" "00001847" "90" "1957" "0" "1957" "0" "c.1957C>T" "r.(?)" "p.(Arg653Cys)" ""
"0000955983" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[(5461_5714del,5461_5584del)]" "p.[(Thr1821Aspfs*6,Thr1821Valfs*13)]" ""
"0000955984" "00001847" "90" "4253" "5" "4253" "5" "c.4253+5G>A" "r.(4129_4253del)" "p.(Ile1377Hisfs*3)" ""
"0000955985" "00001847" "90" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" ""
"0000955986" "00001847" "90" "5196" "1" "5196" "1" "c.5196+1G>T" "r.spl" "p.?" ""
"0000955987" "00001847" "90" "1317" "0" "1317" "0" "c.1317G>A" "r.(?)" "p.(Trp439Ter)" ""
"0000955988" "00001847" "70" "6729" "5" "6729" "19" "c.6729+5_6729+19del" "r.(6480_6729del)" "p.(Phe2161Cysfs*3)" ""
"0000955989" "00001847" "50" "2560" "0" "2560" "0" "c.2560G>A" "r.(?)" "p.(Ala854Thr)" ""
"0000955990" "00001847" "70" "1253" "0" "1253" "0" "c.1253T>C" "r.(?)" "p.(Phe418Ser)" ""
"0000955991" "00001847" "90" "3364" "0" "3364" "0" "c.3364G>A" "r.(?)" "p.(Glu1122Lys)" ""
"0000955992" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" ""
"0000955993" "00001847" "90" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071CysfsTer14)" ""
"0000955994" "00001847" "90" "6119" "0" "6119" "0" "c.6119G>A" "r.(?)" "p.(Arg2040Gln)" ""
"0000955995" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[(5461_5714del,5461_5584del)]" "p.[(Thr1821Aspfs*6,Thr1821Valfs*13)]" ""
"0000955996" "00001847" "90" "71" "0" "71" "0" "c.71G>A" "r.(?)" "p.(Arg24His)" ""
"0000955997" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000955998" "00001847" "70" "6729" "5" "6729" "19" "c.6729+5_6729+19del" "r.(6480_6729del)" "p.(Phe2161Cysfs*3)" ""
"0000955999" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" ""
"0000956000" "00001847" "90" "1937" "1" "1937" "1" "c.1937+1G>A" "r.spl" "p.?" ""
"0000956001" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" ""
"0000956002" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.[(2588g>c,2588_2590del)]" "p.[(Gly863Ala,Gly863del)]" ""
"0000956003" "00001847" "70" "1253" "0" "1253" "0" "c.1253T>C" "r.(?)" "p.(Phe418Ser)" ""
"0000956004" "00001847" "50" "4253" "43" "4253" "43" "c.4253+43G>A" "r.[(=,4129_4253del)]" "p.[(=,Ile1377Hisfs*3)]" ""
"0000956005" "00001847" "70" "4463" "0" "4463" "0" "c.4463G>T" "r.(?)" "p.(Cys1488Phe)" ""
"0000956006" "00001847" "90" "4594" "0" "4594" "0" "c.4594G>A" "r.(?)" "p.(Asp1532Asn)" ""
"0000956007" "00001847" "70" "3064" "0" "3064" "0" "c.3064G>A" "r.(?)" "p.(Glu1022Lys)" ""
"0000956008" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" ""
"0000956009" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[(5461_5714del,5461_5584del)]" "p.[(Thr1821Aspfs*6,Thr1821Valfs*13)]" ""
"0000956010" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" ""
"0000956011" "00001847" "70" "5170" "0" "5170" "0" "c.5170T>C" "r.(?)" "p.(Trp1724Arg)" ""
"0000956012" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000956013" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.[(2588g>c,2588_2590del)]" "p.[(Gly863Ala,Gly863del)]" ""
"0000956014" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.[(2588g>c,2588_2590del)]" "p.[(Gly863Ala,Gly863del)]" ""
"0000956015" "00001847" "50" "3224" "0" "3224" "0" "c.3224C>A" "r.(?)" "p.(Ala1075Asp)" ""
"0000956016" "00001847" "70" "6729" "5" "6729" "19" "c.6729+5_6729+19del" "r.(6480_6729del)" "p.(Phe2161Cysfs*3)" ""
"0000956017" "00001847" "70" "6729" "5" "6729" "19" "c.6729+5_6729+19del" "r.(6480_6729del)" "p.(Phe2161Cysfs*3)" ""
"0000956018" "00001847" "70" "2912" "0" "2912" "0" "c.2912C>A" "r.(?)" "p.(Thr971Asn)" ""
"0000956019" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.[(2588g>c,2588_2590del)]" "p.[(Gly863Ala,Gly863del)]" ""
"0000956020" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" ""
"0000956021" "00001847" "90" "6658" "0" "6658" "0" "c.6658C>T" "r.(?)" "p.(Gln2220Ter)" ""
"0000956022" "00001847" "70" "286" "0" "286" "0" "c.286A>T" "r.(?)" "p.(Asn96Tyr)" ""
"0000956023" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[(5461_5714del,5461_5584del)]" "p.[(Thr1821Aspfs*6,Thr1821Valfs*13)]" ""
"0000956024" "00001847" "70" "1253" "0" "1253" "0" "c.1253T>C" "r.(?)" "p.(Phe418Ser)" ""
"0000956025" "00001847" "70" "4216" "0" "4216" "0" "c.4216C>T" "r.(?)" "p.(His1406Tyr)" ""
"0000956026" "00001847" "50" "2843" "0" "2843" "0" "c.2843G>C" "r.(?)" "p.(Arg948Pro)" ""
"0000956027" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" ""
"0000956028" "00001847" "90" "6088" "0" "6088" "0" "c.6088C>T" "r.(?)" "p.(Arg2030Ter)" ""
"0000956029" "00001847" "50" "4253" "43" "4253" "43" "c.4253+43G>A" "r.[(=,4129_4253del)]" "p.[(=,Ile1377Hisfs*3)]" ""
"0000956030" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.[(2588g>c,2588_2590del)]" "p.[(Gly863Ala,Gly863del)]" ""
"0000956031" "00001847" "90" "3292" "0" "3292" "0" "c.3292C>T" "r.(?)" "p.(Arg1098Cys)" ""
"0000956032" "00001847" "90" "2453" "0" "2453" "0" "c.2453G>A" "r.(?)" "p.(Gly818Glu)" ""
"0000956033" "00001847" "90" "4070" "0" "4070" "0" "c.4070C>T" "r.(?)" "p.(Ala1357Val)" ""
"0000956034" "00001847" "90" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" ""
"0000956035" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[(=,5585_5714del)]" "p.[(=,Glu1863Leufs*33)]" ""
"0000956036" "00001847" "90" "214" "0" "214" "0" "c.214G>A" "r.(?)" "p.(Gly72Arg)" ""
"0000956037" "00001847" "90" "3191" "-1" "3191" "-1" "c.3191-1G>T" "r.spl" "p.?" ""
"0000956038" "00001847" "50" "4253" "43" "4253" "43" "c.4253+43G>A" "r.[(=,4129_4253del)]" "p.[(=,Ile1377Hisfs*3)]" ""
"0000956039" "00001847" "90" "3303" "0" "3303" "0" "c.3303G>A" "r.(?)" "p.(Trp1101Ter)" ""
"0000956040" "00001847" "70" "5932" "0" "5932" "0" "c.5932A>G" "r.(?)" "p.(Lys1978Glu)" ""
"0000956041" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[(5461_5714del,5461_5584del)]" "p.[(Thr1821Aspfs*6,Thr1821Valfs*13)]" ""
"0000956042" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" ""
"0000956043" "00001847" "70" "2912" "0" "2912" "0" "c.2912C>A" "r.(?)" "p.(Thr971Asn)" ""
"0000956044" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" ""
"0000956045" "00001847" "70" "4326" "0" "4326" "0" "c.4326C>A" "r.(?)" "p.(Asn1442Lys)" ""
"0000956046" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" ""
"0000956047" "00001847" "90" "1760" "2" "1760" "2" "c.1760+2T>C" "r.spl" "p.?" ""
"0000956048" "00001847" "70" "6729" "5" "6729" "19" "c.6729+5_6729+19del" "r.(6480_6729del)" "p.(Phe2161Cysfs*3)" ""
"0000956049" "00001847" "90" "161" "0" "161" "0" "c.161G>A" "r.[(161_302del,161g>a)]" "p.[(Cys54Serfs*14,Cys54Tyr)]" ""
"0000956050" "00001847" "70" "6729" "5" "6729" "19" "c.6729+5_6729+19del" "r.(6480_6729del)" "p.(Phe2161Cysfs*3)" ""
"0000956051" "00001847" "90" "29" "0" "29" "0" "c.29dup" "r.(?)" "p.(Leu10PhefsTer44)" ""
"0000956052" "00001847" "90" "161" "0" "161" "0" "c.161G>A" "r.[(161_302del,161g>a)]" "p.[(Cys54Serfs*14,Cys54Tyr)]" ""
"0000956053" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000956054" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000956055" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" ""
"0000956056" "00001847" "90" "1339" "0" "1339" "0" "c.1339C>T" "r.(?)" "p.(Gln447Ter)" ""
"0000956057" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000956058" "00001847" "70" "3329" "-1" "3329" "-1" "c.3329-1G>A" "r.spl" "p.?" ""
"0000956059" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000956060" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000956061" "00001847" "30" "1692" "0" "1692" "0" "c.1692A>G" "r.(?)" "p.(Pro564=)" ""
"0000956062" "00001847" "90" "4253" "4" "4253" "4" "c.4253+4C>T" "r.(4129_4253del)" "p.(Ile1377Hisfs*3)" ""
"0000956063" "00001847" "70" "4216" "0" "4216" "0" "c.4216C>T" "r.(?)" "p.(His1406Tyr)" ""
"0000956064" "00001847" "90" "5929" "0" "5929" "0" "c.5929G>A" "r.(?)" "p.(Gly1977Ser)" ""
"0000956065" "00001847" "90" "108" "0" "108" "0" "c.108del" "r.(?)" "p.(Leu37TrpfsTer3)" ""
"0000956066" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.[(2588g>c,2588_2590del)]" "p.[(Gly863Ala,Gly863del)]" ""
"0000956067" "00001847" "90" "3056" "0" "3056" "0" "c.3056C>T" "r.(?)" "p.(Thr1019Met)" ""
"0000956068" "00001847" "70" "2813" "0" "2813" "0" "c.2813T>C" "r.(?)" "p.(Phe938Ser)" ""
"0000956069" "00001847" "70" "3064" "0" "3064" "0" "c.3064G>A" "r.(?)" "p.(Glu1022Lys)" ""
"0000956070" "00001847" "90" "161" "0" "161" "0" "c.161G>A" "r.[(161_302del,161g>a)]" "p.[(Cys54Serfs*14,Cys54Tyr)]" ""
"0000956071" "00001847" "90" "1906" "0" "1906" "0" "c.1906C>T" "r.(?)" "p.(Gln636Ter)" ""
"0000956072" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[(=,5585_5714del)]" "p.[(=,Glu1863Leufs*33)]" ""
"0000956073" "00001847" "90" "4537" "0" "4537" "0" "c.4537dup" "r.(?)" "p.(Gln1513ProfsTer42)" ""
"0000956074" "00001847" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Ter)" ""
"0000956075" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000956076" "00001847" "90" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" ""
"0000956077" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" ""
"0000956078" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.[(2588g>c,2588_2590del)]" "p.[(Gly863Ala,Gly863del)]" ""
"0000956079" "00001847" "70" "1335" "0" "1335" "0" "c.1335C>G" "r.(?)" "p.(Ser445Arg)" ""
"0000956080" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" ""
"0000956081" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[(=,5585_5714del)]" "p.[(=,Glu1863Leufs*33)]" ""
"0000956082" "00001847" "70" "1335" "0" "1335" "0" "c.1335C>G" "r.(?)" "p.(Ser445Arg)" ""
"0000956083" "00001847" "70" "1715" "0" "1715" "0" "c.1715G>A" "r.(?)" "p.(Arg572Gln)" ""
"0000956084" "00001847" "70" "2827" "0" "2827" "0" "c.2827C>T" "r.(?)" "p.(Arg943Trp)" ""
"0000956085" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" ""
"0000956086" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.[(2588g>c,2588_2590del)]" "p.[(Gly863Ala,Gly863del)]" ""
"0000956087" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000956088" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.[(2588g>c,2588_2590del)]" "p.[(Gly863Ala,Gly863del)]" ""
"0000956089" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" ""
"0000956090" "00001847" "90" "4363" "0" "4363" "0" "c.4363T>C" "r.(?)" "p.(Cys1455Arg)" ""
"0000956091" "00001847" "50" "3392" "0" "3392" "0" "c.3392C>G" "r.(?)" "p.(Ala1131Gly)" ""
"0000956092" "00001847" "50" "3392" "0" "3392" "0" "c.3392C>G" "r.(?)" "p.(Ala1131Gly)" ""
"0000956093" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[(5461_5714del,5461_5584del)]" "p.[(Thr1821Aspfs*6,Thr1821Valfs*13)]" ""
"0000956094" "00001847" "90" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" ""
"0000956095" "00001847" "70" "3197" "0" "3197" "0" "c.3197T>G" "r.(?)" "p.(Met1066Arg)" ""
"0000956096" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.[(2588g>c,2588_2590del)]" "p.[(Gly863Ala,Gly863del)]" ""
"0000956097" "00001847" "70" "3262" "0" "3262" "0" "c.3262C>A" "r.(?)" "p.(Pro1088Thr)" ""
"0000956098" "00001847" "90" "5904" "0" "5904" "0" "c.5904del" "r.(?)" "p.(Phe1968LeufsTer6)" ""
"0000956099" "00001847" "90" "1906" "0" "1906" "0" "c.1906C>T" "r.(?)" "p.(Gln636Ter)" ""
"0000956100" "00001847" "70" "4571" "0" "4571" "0" "c.4571A>G" "r.(?)" "p.(Asp1524Gly)" ""
"0000956101" "00001847" "50" "377" "0" "377" "0" "c.377G>A" "r.(?)" "p.(Trp126Ter)" ""
"0000956102" "00001847" "50" "377" "0" "377" "0" "c.377G>A" "r.(?)" "p.(Trp126Ter)" ""
"0000956103" "00001847" "90" "4240" "0" "4253" "0" "c.4240_4253del" "r.(?)" "p.(Tyr1414HisfsTer3)" ""
"0000956104" "00001847" "50" "1654" "0" "1654" "0" "c.1654G>A" "r.(?)" "p.(Val552Ile)" ""
"0000956105" "00001847" "50" "1099" "5" "1099" "5" "c.1099+5G>C" "r.(?)" "p.(?)" ""
"0000956106" "00001847" "70" "1253" "0" "1253" "0" "c.1253T>C" "r.(?)" "p.(Phe418Ser)" ""
"0000956107" "00001847" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Ter)" ""
"0000956108" "00001847" "90" "4462" "0" "4462" "0" "c.4462T>C" "r.(?)" "p.(Cys1488Arg)" ""
"0000956109" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" ""
"0000956110" "00001847" "90" "2971" "0" "2971" "0" "c.2971G>C" "r.(?)" "p.(Gly991Arg)" ""
"0000956111" "00001847" "90" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" ""
"0000956112" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000956113" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.[(2588g>c,2588_2590del)]" "p.[(Gly863Ala,Gly863del)]" ""
"0000956114" "00001847" "90" "1648" "0" "1648" "0" "c.1648G>A" "r.(?)" "p.(Gly550Arg)" ""
"0000956115" "00001847" "50" "1817" "0" "1817" "0" "c.1817G>A" "r.(?)" "p.(Gly606Asp)" ""
"0000956116" "00001847" "70" "3305" "0" "3305" "0" "c.3305A>T" "r.(?)" "p.(Asp1102Val)" ""
"0000956117" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000956118" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000956119" "00001847" "50" "6877" "0" "6877" "0" "c.*55G>T" "r.(?)" "p.(?)" ""
"0000956120" "00001847" "90" "4363" "0" "4363" "0" "c.4363T>C" "r.(?)" "p.(Cys1455Arg)" ""
"0000956121" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" ""
"0000956122" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" ""
"0000956123" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000956124" "00001847" "90" "161" "0" "161" "0" "c.161G>A" "r.[(161_302del,161g>a)]" "p.[(Cys54Serfs*14,Cys54Tyr)]" ""
"0000956125" "00001847" "90" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071CysfsTer14)" ""
"0000956126" "00001847" "70" "1726" "0" "1726" "0" "c.1726G>C" "r.(?)" "p.(Asp576His)" ""
"0000956127" "00001847" "90" "4222" "0" "4222" "0" "c.4222T>C" "r.(?)" "p.(Trp1408Arg)" ""
"0000956128" "00001847" "90" "4793" "0" "4793" "0" "c.4793C>A" "r.(?)" "p.(Ala1598Asp)" ""
"0000956129" "00001847" "50" "4253" "43" "4253" "43" "c.4253+43G>A" "r.[(=,4129_4253del)]" "p.[(=,Ile1377Hisfs*3)]" ""
"0000956130" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000956131" "00001847" "50" "4873" "0" "4873" "0" "c.4873C>A" "r.(?)" "p.(His1625Asn)" ""
"0000956132" "00001847" "50" "4873" "0" "4873" "0" "c.4873C>A" "r.(?)" "p.(His1625Asn)" ""
"0000956133" "00001847" "70" "1253" "0" "1253" "0" "c.1253T>C" "r.(?)" "p.(Phe418Ser)" ""
"0000956134" "00001847" "70" "1903" "0" "1903" "0" "c.1903C>A" "r.(?)" "p.(Gln635Lys)" ""
"0000956135" "00001847" "50" "4067" "0" "4067" "0" "c.4067A>C" "r.(?)" "p.(Gln1356Pro)" ""
"0000956136" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[(=,5585_5714del)]" "p.[(=,Glu1863Leufs*33)]" ""
"0000956137" "00001847" "50" "1928" "0" "1928" "0" "c.1928T>G" "r.(?)" "p.(Val643Gly)" ""
"0000956138" "00001847" "90" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" ""
"0000956139" "00001847" "50" "1856" "0" "1856" "0" "c.1856T>A" "r.(?)" "p.(Ile619Asn)" ""
"0000956140" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000956141" "00001847" "70" "4463" "0" "4463" "0" "c.4463G>T" "r.(?)" "p.(Cys1488Phe)" ""
"0000956142" "00001847" "70" "1253" "0" "1253" "0" "c.1253T>C" "r.(?)" "p.(Phe418Ser)" ""
"0000956143" "00001847" "90" "2587" "2" "2587" "2" "c.2587+2T>C" "r.spl" "p.?" ""
"0000956144" "00001847" "90" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" ""
"0000956145" "00001847" "70" "3352" "0" "3352" "0" "c.3352C>T" "r.(?)" "p.(His1118Tyr)" ""
"0000956146" "00001847" "90" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" ""
"0000956147" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000956148" "00001847" "90" "1317" "0" "1317" "0" "c.1317G>A" "r.(?)" "p.(Trp439Ter)" ""
"0000956149" "00001847" "90" "1906" "0" "1906" "0" "c.1906C>T" "r.(?)" "p.(Gln636Ter)" ""
"0000956150" "00001847" "50" "2396" "0" "2396" "0" "c.2396C>T" "r.(?)" "p.(Pro799Leu)" ""
"0000956151" "00001847" "50" "1928" "0" "1928" "0" "c.1928T>G" "r.(?)" "p.(Val643Gly)" ""
"0000956152" "00001847" "90" "1648" "0" "1648" "0" "c.1648G>A" "r.(?)" "p.(Gly550Arg)" ""
"0000956153" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.[(2588g>c,2588_2590del)]" "p.[(Gly863Ala,Gly863del)]" ""
"0000956154" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" ""
"0000956155" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000956156" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" ""
"0000956157" "00001847" "70" "1253" "0" "1253" "0" "c.1253T>C" "r.(?)" "p.(Phe418Ser)" ""
"0000956158" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000956159" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000956160" "00001847" "90" "4538" "0" "4538" "0" "c.4538A>G" "r.[(4539_4540ins4540+1_4530+30,4467_4539del)]" "p.[(Arg1513_Arg1514ins10,Cys1490Glufs*12)]" ""
"0000956161" "00001847" "90" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" ""
"0000956162" "00001847" "90" "4234" "0" "4234" "0" "c.4234C>T" "r.(?)" "p.(Gln1412Ter)" ""
"0000956163" "00001847" "90" "6098" "0" "6098" "0" "c.6098T>G" "r.(?)" "p.(Leu2033Arg)" ""
"0000956164" "00001847" "50" "619" "0" "619" "0" "c.619G>A" "r.(?)" "p.(Glu207Lys)" ""
"0000956165" "00001847" "90" "5196" "1" "5196" "1" "c.5196+1G>A" "r.spl" "p.?" ""
"0000956166" "00001847" "90" "331" "0" "332" "0" "c.331_332del" "r.(?)" "p.(Glu111ThrfsTer49)" ""
"0000956167" "00001847" "90" "4098" "0" "4098" "0" "c.4098dup" "r.(?)" "p.(Ile1367HisfsTer55)" ""
"0000956168" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000956169" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.[(2588g>c,2588_2590del)]" "p.[(Gly863Ala,Gly863del)]" ""
"0000956170" "00001847" "50" "1817" "0" "1817" "0" "c.1817G>A" "r.(?)" "p.(Gly606Asp)" ""
"0000956171" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.[(2588g>c,2588_2590del)]" "p.[(Gly863Ala,Gly863del)]" ""
"0000956172" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000956173" "00001847" "70" "6729" "5" "6729" "19" "c.6729+5_6729+19del" "r.(6480_6729del)" "p.(Phe2161Cysfs*3)" ""
"0000956174" "00001847" "90" "2041" "0" "2041" "0" "c.2041C>T" "r.(?)" "p.(Arg681Ter)" ""
"0000956175" "00001847" "90" "1957" "0" "1957" "0" "c.1957C>T" "r.(?)" "p.(Arg653Cys)" ""
"0000956176" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" ""
"0000956177" "00001847" "70" "3064" "0" "3064" "0" "c.3064G>A" "r.(?)" "p.(Glu1022Lys)" ""
"0000956178" "00001847" "70" "3064" "0" "3064" "0" "c.3064G>A" "r.(?)" "p.(Glu1022Lys)" ""
"0000956179" "00001847" "90" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" ""
"0000956180" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000956181" "00001847" "50" "1856" "0" "1856" "0" "c.1856T>A" "r.(?)" "p.(Ile619Asn)" ""
"0000956182" "00001847" "50" "5693" "0" "5693" "0" "c.5693G>A" "r.(?)" "p.(Arg1898His)" ""
"0000956183" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.[(2588g>c,2588_2590del)]" "p.[(Gly863Ala,Gly863del)]" ""
"0000956184" "00001847" "90" "161" "0" "161" "0" "c.161G>A" "r.[(161_302del,161g>a)]" "p.[(Cys54Serfs*14,Cys54Tyr)]" ""
"0000956185" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000956186" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" ""
"0000956187" "00001847" "50" "1760" "3" "1760" "3" "c.1760+3G>C" "r.(?)" "p.(?)" ""
"0000956188" "00001847" "90" "2023" "0" "2023" "0" "c.2023G>A" "r.(?)" "p.(Val675Ile)" ""
"0000956189" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000956190" "00001847" "70" "5413" "0" "5413" "0" "c.5413A>G" "r.(?)" "p.(Asn1805Asp)" ""
"0000956191" "00001847" "70" "53" "0" "53" "0" "c.53G>A" "r.(?)" "p.(Arg18Gln)" ""
"0000956192" "00001847" "90" "4363" "0" "4363" "0" "c.4363T>C" "r.(?)" "p.(Cys1455Arg)" ""
"0000956193" "00001847" "90" "5196" "1056" "5196" "1056" "c.5196+1056A>G" "r.(5196_5197ins5196+880_5196+1056)" "p.(Met1733Valfs*2)" ""
"0000956194" "00001847" "50" "2161" "-6" "2161" "-6" "c.2161-6T>C" "r.(?)" "p.(?)" ""
"0000956195" "00001847" "70" "3064" "0" "3064" "0" "c.3064G>A" "r.(?)" "p.(Glu1022Lys)" ""
"0000956196" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000956197" "00001847" "90" "3292" "0" "3292" "0" "c.3292C>T" "r.(?)" "p.(Arg1098Cys)" ""
"0000956198" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" ""
"0000956199" "00001847" "50" "4064" "0" "4064" "0" "c.4064T>A" "r.(?)" "p.(Val1355Glu)" ""
"0000956200" "00001847" "90" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" ""
"0000956201" "00001847" "90" "4462" "0" "4462" "0" "c.4462T>C" "r.(?)" "p.(Cys1488Arg)" ""
"0000956202" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" ""
"0000956203" "00001847" "50" "1293" "0" "1293" "0" "c.1293G>T" "r.(?)" "p.(Trp431Cys)" ""
"0000956204" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[(=,5585_5714del)]" "p.[(=,Glu1863Leufs*33)]" ""
"0000956205" "00001847" "70" "3064" "0" "3064" "0" "c.3064G>A" "r.(?)" "p.(Glu1022Lys)" ""
"0000956206" "00001847" "90" "2971" "0" "2971" "0" "c.2971G>C" "r.(?)" "p.(Gly991Arg)" ""
"0000956207" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" ""
"0000956208" "00001847" "90" "3212" "0" "3212" "0" "c.3212C>T" "r.(?)" "p.(Ser1071Leu)" ""
"0000956209" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[(5461_5714del,5461_5584del)]" "p.[(Thr1821Aspfs*6,Thr1821Valfs*13)]" ""
"0000956210" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000956211" "00001847" "90" "4948" "0" "4948" "0" "c.4948G>T" "r.(?)" "p.(Glu1650Ter)" ""
"0000956212" "00001847" "90" "5018" "2" "5018" "2" "c.5018+2T>C" "r.spl" "p.?" ""
"0000956213" "00001847" "70" "1715" "0" "1715" "0" "c.1715G>A" "r.(?)" "p.(Arg572Gln)" ""
"0000956214" "00001847" "90" "1906" "0" "1906" "0" "c.1906C>T" "r.(?)" "p.(Gln636Ter)" ""
"0000956215" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000956216" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000956217" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000956218" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" ""
"0000956219" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" ""
"0000956220" "00001847" "70" "3064" "0" "3064" "0" "c.3064G>A" "r.(?)" "p.(Glu1022Lys)" ""
"0000956221" "00001847" "90" "4253" "5" "4253" "5" "c.4253+5G>T" "r.[(4129_4253del,=)]" "p.[(Ile1377Hisfs*3,=)]" ""
"0000956222" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" ""
"0000956223" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000956224" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" ""
"0000956225" "00001847" "90" "3056" "0" "3056" "0" "c.3056C>T" "r.(?)" "p.(Thr1019Met)" ""
"0000956226" "00001847" "90" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071CysfsTer14)" ""
"0000956227" "00001847" "90" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" ""
"0000956228" "00001847" "90" "4222" "0" "4222" "0" "c.4222T>C" "r.(?)" "p.(Trp1408Arg)" ""
"0000956229" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000956230" "00001847" "50" "2297" "0" "2297" "0" "c.2297G>A" "r.(?)" "p.(Gly766Asp)" ""
"0000956231" "00001847" "90" "5313" "-1" "5313" "0" "c.5313-1_5313del" "r.spl" "p.?" ""
"0000956232" "00001847" "50" "2063" "0" "2063" "0" "c.2063A>T" "r.(?)" "p.(Asn688Ile)" ""
"0000956233" "00001847" "50" "466" "0" "466" "0" "c.466A>G" "r.(?)" "p.(Ile156Val)" ""
"0000956234" "00001847" "50" "2654" "0" "2654" "0" "c.2654G>A" "r.(?)" "p.(Gly885Glu)" ""
"0000956235" "00001847" "90" "5312" "1" "5312" "1" "c.5312+1G>A" "r.spl" "p.?" ""
"0000956236" "00001847" "90" "1239" "1" "1239" "1" "c.1239+1G>A" "r.spl" "p.?" ""
"0000956237" "00001847" "30" "1460" "0" "1460" "0" "c.1460G>A" "r.(?)" "p.(Arg487Gln)" ""
"0000956238" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" ""
"0000956239" "00001847" "90" "3364" "0" "3364" "0" "c.3364G>A" "r.(?)" "p.(Glu1122Lys)" ""
"0000956240" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" ""
"0000956241" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000956242" "00001847" "50" "2930" "0" "2930" "0" "c.2930C>T" "r.(?)" "p.(Thr977Met)" ""
"0000956243" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.[(2588g>c,2588_2590del)]" "p.[(Gly863Ala,Gly863del)]" ""
"0000956244" "00001847" "90" "5316" "0" "5316" "0" "c.5316G>A" "r.(?)" "p.(Trp1772Ter)" ""
"0000956245" "00001847" "70" "3482" "0" "3482" "0" "c.3482G>A" "r.(?)" "p.(Arg1161His)" ""
"0000956246" "00001847" "90" "1343" "0" "1343" "0" "c.1343T>A" "r.(?)" "p.(Met448Lys)" ""
"0000956247" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" ""
"0000956248" "00001847" "50" "3050" "34" "3050" "34" "c.3050+34C>T" "r.(?)" "p.(?)" ""
"0000956249" "00001847" "90" "2971" "0" "2971" "0" "c.2971G>C" "r.(?)" "p.(Gly991Arg)" ""
"0000956250" "00001847" "90" "1957" "0" "1957" "0" "c.1957C>T" "r.(?)" "p.(Arg653Cys)" ""
"0000956251" "00001847" "90" "4457" "0" "4457" "0" "c.4457C>T" "r.(?)" "p.(Pro1486Leu)" ""
"0000956252" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" ""
"0000956253" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.[(2588g>c,2588_2590del)]" "p.[(Gly863Ala,Gly863del)]" ""
"0000956254" "00001847" "90" "1381" "0" "1381" "0" "c.1381A>T" "r.(?)" "p.(Lys461Ter)" ""
"0000956255" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[(5461_5714del,5461_5584del)]" "p.[(Thr1821Aspfs*6,Thr1821Valfs*13)]" ""
"0000956256" "00001847" "90" "2915" "0" "2915" "0" "c.2915C>A" "r.(?)" "p.(Thr972Asn)" ""
"0000956257" "00001847" "90" "3289" "0" "3289" "0" "c.3289A>T" "r.(?)" "p.(Arg1097Ter)" ""
"0000956258" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000956259" "00001847" "70" "4124" "0" "4124" "0" "c.4124C>A" "r.(?)" "p.(Ala1375Glu)" ""
"0000956260" "00001847" "90" "2564" "0" "2564" "0" "c.2564G>A" "r.(?)" "p.(Trp855Ter)" ""
"0000956261" "00001847" "90" "5018" "2" "5018" "2" "c.5018+2T>C" "r.spl" "p.?" ""
"0000956262" "00001847" "90" "2966" "0" "2966" "0" "c.2966T>C" "r.(?)" "p.(Val989Ala)" ""
"0000956263" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" ""
"0000956264" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" ""
"0000956265" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" ""
"0000956266" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" ""
"0000956267" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[(5461_5714del,5461_5584del)]" "p.[(Thr1821Aspfs*6,Thr1821Valfs*13)]" ""
"0000956268" "00001847" "70" "2265" "0" "2265" "0" "c.2265C>G" "r.(?)" "p.(Phe755Leu)" ""
"0000956269" "00001847" "90" "3323" "0" "3323" "0" "c.3323G>A" "r.(?)" "p.(Arg1108His)" ""
"0000956270" "00001847" "90" "93" "0" "93" "0" "c.93G>A" "r.(?)" "p.(Trp31Ter)" ""
"0000956271" "00001847" "70" "3050" "5" "3050" "5" "c.3050+5G>A" "r.(2919_3050del)" "p.(Leu973_His1017delinsPhe)" ""
"0000956272" "00001847" "70" "3064" "0" "3064" "0" "c.3064G>A" "r.(?)" "p.(Glu1022Lys)" ""
"0000956273" "00001847" "90" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973Ter)" ""
"0000956274" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.[(2588g>c,2588_2590del)]" "p.[(Gly863Ala,Gly863del)]" ""
"0000956275" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[(5461_5714del,5461_5584del)]" "p.[(Thr1821Aspfs*6,Thr1821Valfs*13)]" ""
"0000956276" "00001847" "90" "4253" "4" "4253" "4" "c.4253+4C>T" "r.(4129_4253del)" "p.(Ile1377Hisfs*3)" ""
"0000956277" "00001847" "50" "2519" "0" "2519" "0" "c.2519T>A" "r.(?)" "p.(Met840Lys)" ""
"0000956278" "00001847" "90" "5846" "0" "5846" "0" "c.5846del" "r.(?)" "p.(Gly1949AlafsTer25)" ""
"0000956279" "00001847" "90" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973Ter)" ""
"0000956280" "00001847" "90" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973Ter)" ""
"0000956281" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" ""
"0000956282" "00001847" "90" "5196" "1" "5196" "1" "c.5196+1G>A" "r.spl" "p.?" ""
"0000956283" "00001847" "90" "5196" "1" "5196" "1" "c.5196+1G>A" "r.spl" "p.?" ""
"0000956284" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[(5461_5714del,5461_5584del)]" "p.[(Thr1821Aspfs*6,Thr1821Valfs*13)]" ""
"0000956285" "00001847" "70" "1253" "0" "1253" "0" "c.1253T>C" "r.(?)" "p.(Phe418Ser)" ""
"0000956286" "00001847" "90" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" ""
"0000956287" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000956288" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" ""
"0000956289" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" ""
"0000956290" "00001847" "50" "1292" "0" "1292" "0" "c.1292G>A" "r.(?)" "p.(Trp431Ter)" ""
"0000956291" "00001847" "90" "2023" "0" "2023" "0" "c.2023G>A" "r.(?)" "p.(Val675Ile)" ""
"0000956292" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.[(2588g>c,2588_2590del)]" "p.[(Gly863Ala,Gly863del)]" ""
"0000956293" "00001847" "90" "3259" "0" "3259" "0" "c.3259G>A" "r.(?)" "p.(Glu1087Lys)" ""
"0000956294" "00001847" "50" "4734" "0" "4734" "0" "c.4734del" "r.(?)" "p.(Leu1580Ter)" ""
"0000956295" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000956296" "00001847" "90" "4793" "0" "4793" "0" "c.4793C>A" "r.(?)" "p.(Ala1598Asp)" ""
"0000956297" "00001847" "90" "4539" "2028" "4539" "2028" "c.4539+2028C>T" "r.[(=,4539_4540ins4539+1891_4540-2162)]" "p.[(=,Arg1514Leufs*36)]" ""
"0000956298" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[(5461_5714del,5461_5584del)]" "p.[(Thr1821Aspfs*6,Thr1821Valfs*13)]" ""
"0000956299" "00001847" "90" "1317" "0" "1317" "0" "c.1317G>A" "r.(?)" "p.(Trp439Ter)" ""
"0000956300" "00001847" "90" "3289" "0" "3289" "0" "c.3289A>T" "r.(?)" "p.(Arg1097Ter)" ""
"0000956301" "00001847" "90" "3289" "0" "3289" "0" "c.3289A>T" "r.(?)" "p.(Arg1097Ter)" ""
"0000956302" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.[(2588g>c,2588_2590del)]" "p.[(Gly863Ala,Gly863del)]" ""
"0000956303" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000956304" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.[(2588g>c,2588_2590del)]" "p.[(Gly863Ala,Gly863del)]" ""
"0000956305" "00001847" "90" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071CysfsTer14)" ""
"0000956306" "00001847" "50" "2382" "0" "2382" "0" "c.2382G>A" "r.(?)" "p.(Val794=)" ""
"0000956307" "00001847" "90" "859" "-9" "859" "-9" "c.859-9T>C" "r.[(=,859_1356del)]" "p.[(=,Phe287_Arg452del)]" ""
"0000956308" "00001847" "50" "1917" "0" "1917" "0" "c.1917C>A" "r.(?)" "p.(Tyr639Ter)" ""
"0000956309" "00001847" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Ter)" ""
"0000956310" "00001847" "90" "6658" "0" "6658" "0" "c.6658C>T" "r.(?)" "p.(Gln2220Ter)" ""
"0000956311" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" ""
"0000956312" "00001847" "90" "3259" "0" "3259" "0" "c.3259G>A" "r.(?)" "p.(Glu1087Lys)" ""
"0000956313" "00001847" "90" "859" "-9" "859" "-9" "c.859-9T>C" "r.[(=,859_1356del)]" "p.[(=,Phe287_Arg452del)]" ""
"0000956314" "00001847" "90" "6088" "0" "6088" "0" "c.6088C>T" "r.(?)" "p.(Arg2030Ter)" ""
"0000956315" "00001847" "90" "1317" "0" "1317" "0" "c.1317G>A" "r.(?)" "p.(Trp439Ter)" ""
"0000956316" "00001847" "50" "2042" "0" "2042" "0" "c.2042G>A" "r.(?)" "p.(Arg681Gln)" ""
"0000956317" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000956318" "00001847" "90" "3814" "-2" "3814" "-2" "c.3814-2A>T" "r.spl" "p.?" ""
"0000956319" "00001847" "90" "4539" "2028" "4539" "2028" "c.4539+2028C>T" "r.[(=,4539_4540ins4539+1891_4540-2162)]" "p.[(=,Arg1514Leufs*36)]" ""
"0000956320" "00001847" "70" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.(Met1?)" ""
"0000956321" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" ""
"0000956322" "00001847" "70" "2791" "0" "2791" "0" "c.2791G>A" "r.(?)" "p.(Val931Met)" ""
"0000956323" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000956324" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.[(2588g>c,2588_2590del)]" "p.[(Gly863Ala,Gly863del)]" ""
"0000956325" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.[(2588g>c,2588_2590del)]" "p.[(Gly863Ala,Gly863del)]" ""
"0000956326" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000956327" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[(=,5585_5714del)]" "p.[(=,Glu1863Leufs*33)]" ""
"0000956328" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.[(2588g>c,2588_2590del)]" "p.[(Gly863Ala,Gly863del)]" ""
"0000956329" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000956330" "00001847" "90" "1957" "0" "1957" "0" "c.1957C>T" "r.(?)" "p.(Arg653Cys)" ""
"0000956331" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.[(2588g>c,2588_2590del)]" "p.[(Gly863Ala,Gly863del)]" ""
"0000956332" "00001847" "90" "1906" "0" "1906" "0" "c.1906C>T" "r.(?)" "p.(Gln636Ter)" ""
"0000956333" "00001847" "70" "3064" "0" "3064" "0" "c.3064G>A" "r.(?)" "p.(Glu1022Lys)" ""
"0000956334" "00001847" "90" "6658" "0" "6658" "0" "c.6658C>T" "r.(?)" "p.(Gln2220Ter)" ""
"0000956335" "00001847" "90" "6658" "0" "6658" "0" "c.6658C>T" "r.(?)" "p.(Gln2220Ter)" ""
"0000956336" "00001847" "50" "2861" "0" "2861" "0" "c.2861A>C" "r.(?)" "p.(Tyr954Ser)" ""
"0000956337" "00001847" "90" "1995" "0" "1995" "0" "c.1995C>A" "r.(?)" "p.(Tyr665Ter)" ""
"0000956338" "00001847" "50" "4253" "43" "4253" "43" "c.4253+43G>A" "r.[(=,4129_4253del)]" "p.[(=,Ile1377Hisfs*3)]" ""
"0000956339" "00001847" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Ter)" ""
"0000956340" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.[(2588g>c,2588_2590del)]" "p.[(Gly863Ala,Gly863del)]" ""
"0000956341" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" ""
"0000956342" "00001847" "70" "2813" "0" "2813" "0" "c.2813T>C" "r.(?)" "p.(Phe938Ser)" ""
"0000956343" "00001847" "90" "498" "0" "498" "0" "c.498del" "r.(?)" "p.(Leu167SerfsTer15)" ""
"0000956344" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" ""
"0000956345" "00001847" "50" "3350" "0" "3350" "0" "c.3350C>A" "r.(?)" "p.(Thr1117Asn)" ""
"0000956346" "00001847" "70" "1519" "0" "1519" "0" "c.1519G>T" "r.(?)" "p.(Asp507Tyr)" ""
"0000956347" "00001847" "90" "1805" "0" "1805" "0" "c.1805G>A" "r.(?)" "p.(Arg602Gln)" ""
"0000956348" "00001847" "90" "194" "0" "194" "0" "c.194G>A" "r.(?)" "p.(Gly65Glu)" ""
"0000956349" "00001847" "90" "3259" "0" "3259" "0" "c.3259G>A" "r.(?)" "p.(Glu1087Lys)" ""
"0000956350" "00001847" "50" "6290" "0" "6290" "0" "c.6290C>T" "r.(?)" "p.(Pro2097Leu)" ""
"0000956351" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[(=,5585_5714del)]" "p.[(=,Glu1863Leufs*33)]" ""
"0000956352" "00001847" "30" "4129" "-17" "4129" "-17" "c.4129-17C>T" "r.(?)" "p.(?)" ""
"0000956353" "00001847" "50" "1846" "0" "1846" "0" "c.1846G>T" "r.(?)" "p.(Glu616Ter)" ""
"0000956354" "00001847" "90" "4462" "0" "4462" "0" "c.4462T>C" "r.(?)" "p.(Cys1488Arg)" ""
"0000956355" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" ""
"0000956356" "00001847" "50" "2092" "0" "2092" "0" "c.2092T>C" "r.(?)" "p.(Cys698Arg)" ""
"0000956357" "00001847" "90" "2041" "0" "2041" "0" "c.2041C>T" "r.(?)" "p.(Arg681Ter)" ""
"0000956358" "00001847" "50" "5087" "0" "5087" "0" "c.5087G>T" "r.(?)" "p.(Ser1696Ile)" ""
"0000956359" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" ""
"0000956360" "00001847" "90" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071CysfsTer14)" ""
"0000956361" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000956362" "00001847" "90" "1906" "0" "1906" "0" "c.1906C>T" "r.(?)" "p.(Gln636Ter)" ""
"0000956363" "00001847" "90" "2971" "0" "2971" "0" "c.2971G>C" "r.(?)" "p.(Gly991Arg)" ""
"0000956364" "00001847" "90" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" ""
"0000956365" "00001847" "90" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" ""
"0000956366" "00001847" "70" "6729" "5" "6729" "19" "c.6729+5_6729+19del" "r.(6480_6729del)" "p.(Phe2161Cysfs*3)" ""
"0000956367" "00001847" "50" "1522" "0" "1522" "0" "c.1522C>T" "r.(?)" "p.(Arg508Cys)" ""
"0000956368" "00001847" "90" "3259" "0" "3259" "0" "c.3259G>A" "r.(?)" "p.(Glu1087Lys)" ""
"0000956369" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" ""
"0000956370" "00001847" "70" "3064" "0" "3064" "0" "c.3064G>A" "r.(?)" "p.(Glu1022Lys)" ""
"0000956371" "00001847" "90" "4234" "0" "4234" "0" "c.4234C>T" "r.(?)" "p.(Gln1412Ter)" ""
"0000956372" "00001847" "90" "93" "0" "93" "0" "c.93G>A" "r.(?)" "p.(Trp31Ter)" ""
"0000956373" "00001847" "70" "3064" "0" "3064" "0" "c.3064G>A" "r.(?)" "p.(Glu1022Lys)" ""
"0000956374" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000956375" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[(5461_5714del,5461_5584del)]" "p.[(Thr1821Aspfs*6,Thr1821Valfs*13)]" ""
"0000956376" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" ""
"0000956377" "00001847" "90" "4462" "0" "4462" "0" "c.4462T>C" "r.(?)" "p.(Cys1488Arg)" ""
"0000956378" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" ""
"0000956379" "00001847" "90" "3259" "0" "3259" "0" "c.3259G>A" "r.(?)" "p.(Glu1087Lys)" ""
"0000956380" "00001847" "90" "859" "-9" "859" "-9" "c.859-9T>C" "r.[(=,859_1356del)]" "p.[(=,Phe287_Arg452del)]" ""
"0000956381" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" ""
"0000956382" "00001847" "70" "6729" "5" "6729" "19" "c.6729+5_6729+19del" "r.(6480_6729del)" "p.(Phe2161Cysfs*3)" ""
"0000956383" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000956384" "00001847" "90" "1906" "0" "1906" "0" "c.1906C>T" "r.(?)" "p.(Gln636Ter)" ""
"0000956385" "00001847" "90" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" ""
"0000956386" "00001847" "50" "1069" "0" "1075" "0" "c.1069_1075del" "r.(?)" "p.(Asp357SerfsTer15)" ""
"0000956387" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000956388" "00001847" "90" "1937" "1" "1937" "1" "c.1937+1G>A" "r.spl" "p.?" ""
"0000956389" "00001847" "90" "1609" "0" "1609" "0" "c.1609C>T" "r.(?)" "p.(Arg537Cys)" ""
"0000956390" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[(5461_5714del,5461_5584del)]" "p.[(Thr1821Aspfs*6,Thr1821Valfs*13)]" ""
"0000956391" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" ""
"0000956392" "00001847" "90" "6229" "0" "6229" "0" "c.6229C>T" "r.(?)" "p.(Arg2077Trp)" ""
"0000956393" "00001847" "50" "769" "-3" "769" "-3" "c.769-3C>T" "r.spl?" "p.(?)" ""
"0000956394" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[(5461_5714del,5461_5584del)]" "p.[(Thr1821Aspfs*6,Thr1821Valfs*13)]" ""
"0000956395" "00001847" "90" "454" "0" "454" "0" "c.454C>T" "r.(?)" "p.(Arg152Ter)" ""
"0000956396" "00001847" "90" "1850" "0" "1851" "0" "c.1850_1851del" "r.(?)" "p.(Gln617ArgfsTer148)" ""
"0000956397" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000956398" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[(5461_5714del,5461_5584del)]" "p.[(Thr1821Aspfs*6,Thr1821Valfs*13)]" ""
"0000956399" "00001847" "90" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" ""
"0000956400" "00001847" "90" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" ""
"0000956401" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[(=,5585_5714del)]" "p.[(=,Glu1863Leufs*33)]" ""
"0000956402" "00001847" "50" "6158" "0" "6158" "0" "c.6158G>A" "r.(?)" "p.(Trp2053Ter)" ""
"0000956403" "00001847" "90" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" ""
"0000956404" "00001847" "90" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" ""
"0000956405" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000956406" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" ""
"0000956407" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" ""
"0000956408" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" ""
"0000956409" "00001847" "90" "6449" "0" "6449" "0" "c.6449G>A" "r.(?)" "p.(Cys2150Tyr)" ""
"0000956410" "00001847" "90" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" ""
"0000956411" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.[(2588g>c,2588_2590del)]" "p.[(Gly863Ala,Gly863del)]" ""
"0000956412" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[(5461_5714del,5461_5584del)]" "p.[(Thr1821Aspfs*6,Thr1821Valfs*13)]" ""
"0000956413" "00001847" "70" "4594" "0" "4594" "0" "c.4594G>T" "r.(?)" "p.(Asp1532Tyr)" ""
"0000956414" "00001847" "90" "6658" "0" "6658" "0" "c.6658C>T" "r.(?)" "p.(Gln2220Ter)" ""
"0000956415" "00001847" "90" "6213" "0" "6213" "0" "c.6213C>G" "r.(?)" "p.(Tyr2071Ter)" ""
"0000956416" "00001847" "90" "6213" "0" "6213" "0" "c.6213C>G" "r.(?)" "p.(Tyr2071Ter)" ""
"0000956417" "00001847" "90" "6213" "0" "6213" "0" "c.6213C>G" "r.(?)" "p.(Tyr2071Ter)" ""
"0000956418" "00001847" "90" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.[(=,5196_5197ins5196+1140_5196+1212)]" "p.[(=,Met1733Glufs*78)]" ""
"0000956419" "00001847" "90" "4919" "0" "4919" "0" "c.4919G>A" "r.(?)" "p.(Arg1640Gln)" ""
"0000956420" "00001847" "50" "466" "0" "466" "0" "c.466A>G" "r.(?)" "p.(Ile156Val)" ""
"0000956421" "00001847" "70" "5516" "0" "5516" "0" "c.5516T>C" "r.(?)" "p.(Phe1839Ser)" ""
"0000956422" "00001847" "50" "466" "0" "466" "0" "c.466A>G" "r.(?)" "p.(Ile156Val)" ""
"0000956423" "00001847" "70" "5516" "0" "5516" "0" "c.5516T>C" "r.(?)" "p.(Phe1839Ser)" ""
"0000956424" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[(5461_5714del,5461_5584del)]" "p.[(Thr1821Aspfs*6,Thr1821Valfs*13)]" ""
"0000956425" "00001847" "50" "6148" "0" "6148" "0" "c.6148G>C" "r.spl?" "p.(?,Val2050Leu)" ""
"0000956426" "00001847" "90" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" ""
"0000956427" "00001847" "90" "3259" "0" "3259" "0" "c.3259G>A" "r.(?)" "p.(Glu1087Lys)" ""
"0000956428" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000956429" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000956430" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>A" "r.(?)" "p.(Arg1129His)" ""
"0000956431" "00001847" "50" "4634" "0" "4634" "0" "c.4634G>A" "r.spl?" "p.(Ser1545Asn)" ""
"0000956432" "00001847" "30" "2828" "0" "2828" "0" "c.2828G>A" "r.(?)" "p.(Arg943Gln)" ""
"0000956433" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" ""
"0000956434" "00001847" "90" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" ""
"0000956435" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[(=,5585_5714del)]" "p.[(=,Glu1863Leufs*33)]" ""
"0000956436" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[(=,5585_5714del)]" "p.[(=,Glu1863Leufs*33)]" ""
"0000956437" "00001847" "90" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" ""
"0000956438" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000956439" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.(768_769ins769+1_769+30)" "p.(Leu257Valfs*17)" ""
"0000956440" "00001847" "90" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" ""
"0000956441" "00001847" "90" "2023" "0" "2023" "0" "c.2023G>A" "r.(?)" "p.(Val675Ile)" ""
"0000956442" "00001847" "90" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" ""
"0000956443" "00001847" "70" "6342" "0" "6342" "0" "c.6342G>A" "r.spl?" "p.(?,Val2114=)" ""
"0000956444" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000956445" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" ""
"0000956446" "00001847" "90" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.[(=,5196_5197ins5196+1140_5196+1212)]" "p.[(=,Met1733Glufs*78)]" ""
"0000956447" "00001847" "90" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.[(=,5196_5197ins5196+1140_5196+1212)]" "p.[(=,Met1733Glufs*78)]" ""
"0000956448" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[(5461_5714del,5461_5584del)]" "p.[(Thr1821Aspfs*6,Thr1821Valfs*13)]" ""
"0000956449" "00001847" "90" "6449" "0" "6449" "0" "c.6449G>A" "r.(?)" "p.(Cys2150Tyr)" ""
"0000956450" "00001847" "90" "6449" "0" "6449" "0" "c.6449G>A" "r.(?)" "p.(Cys2150Tyr)" ""
"0000956451" "00001847" "70" "5578" "0" "5578" "0" "c.5578C>T" "r.(?)" "p.(Arg1860Trp)" ""
"0000956452" "00001847" "50" "2297" "0" "2297" "0" "c.2297G>T" "r.(?)" "p.(Gly766Val)" ""
"0000956453" "00001847" "90" "5381" "0" "5381" "0" "c.5381C>A" "r.(?)" "p.(Ala1794Asp)" ""
"0000956454" "00001847" "90" "5381" "0" "5381" "0" "c.5381C>A" "r.(?)" "p.(Ala1794Asp)" ""
"0000956455" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[(=,5585_5714del)]" "p.[(=,Glu1863Leufs*33)]" ""
"0000956456" "00001847" "90" "2564" "0" "2564" "0" "c.2564G>A" "r.(?)" "p.(Trp855Ter)" ""
"0000956457" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" ""
"0000956458" "00001847" "50" "5693" "0" "5693" "0" "c.5693G>A" "r.(?)" "p.(Arg1898His)" ""
"0000956459" "00001847" "90" "2069" "0" "2069" "0" "c.2069G>T" "r.(?)" "p.(Gly690Val)" ""
"0000956460" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000956461" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" ""
"0000956462" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.[(2588g>c,2588_2590del)]" "p.[(Gly863Ala,Gly863del)]" ""
"0000956463" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000956464" "00001847" "90" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.[(=,5196_5197ins5196+1140_5196+1212)]" "p.[(=,Met1733Glufs*78)]" ""
"0000956465" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" ""
"0000956466" "00001847" "90" "666" "0" "678" "0" "c.666_678del" "r.(?)" "p.(Lys223MetfsTer14)" ""
"0000956467" "00001847" "90" "666" "0" "678" "0" "c.666_678del" "r.(?)" "p.(Lys223MetfsTer14)" ""
"0000956468" "00001847" "70" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" ""
"0000956469" "00001847" "90" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" ""
"0000956470" "00001847" "50" "6207" "0" "6207" "0" "c.6207C>T" "r.(?)" "p.(Gly2069=)" ""
"0000956471" "00001847" "50" "6207" "0" "6207" "0" "c.6207C>T" "r.(?)" "p.(Gly2069=)" ""
"0000956472" "00001847" "90" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" ""
"0000956473" "00001847" "90" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" ""
"0000956474" "00001847" "50" "5051" "0" "5051" "0" "c.5051T>A" "r.(?)" "p.(Ile1684Asn)" ""
"0000956475" "00001847" "90" "5114" "0" "5114" "0" "c.5114G>A" "r.(?)" "p.(Arg1705Gln)" ""
"0000956476" "00001847" "70" "5377" "0" "5377" "0" "c.5377G>A" "r.(?)" "p.(Val1793Met)" ""
"0000956477" "00001847" "50" "6455" "0" "6455" "0" "c.6455G>A" "r.(?)" "p.(Gly2152Asp)" ""
"0000956478" "00001847" "30" "2828" "0" "2828" "0" "c.2828G>A" "r.(?)" "p.(Arg943Gln)" ""
"0000956479" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[(5461_5714del,5461_5584del)]" "p.[(Thr1821Aspfs*6,Thr1821Valfs*13)]" ""
"0000956480" "00001847" "90" "4253" "5" "4253" "5" "c.4253+5G>A" "r.(4129_4253del)" "p.(Ile1377Hisfs*3)" ""
"0000956481" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000956482" "00001847" "90" "6316" "0" "6316" "0" "c.6316C>T" "r.(?)" "p.(Arg2106Cys)" ""
"0000956483" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.[(2588g>c,2588_2590del)]" "p.[(Gly863Ala,Gly863del)]" ""
"0000956484" "00001847" "90" "6118" "0" "6118" "0" "c.6118C>T" "r.(?)" "p.(Arg2040Ter)" ""
"0000956485" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000956486" "00001847" "50" "4685" "0" "4685" "0" "c.4685T>C" "r.(?)" "p.(Ile1562Thr)" ""
"0000956487" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000956488" "00001847" "90" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" ""
"0000956489" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" ""
"0000956490" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000956491" "00001847" "30" "2828" "0" "2828" "0" "c.2828G>A" "r.(?)" "p.(Arg943Gln)" ""
"0000956492" "00001847" "90" "655" "0" "655" "0" "c.655A>T" "r.(?)" "p.(Arg219Ter)" ""
"0000956493" "00001847" "90" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" ""
"0000956494" "00001847" "90" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" ""
"0000956495" "00001847" "30" "2828" "0" "2828" "0" "c.2828G>A" "r.(?)" "p.(Arg943Gln)" ""
"0000956496" "00001847" "90" "6098" "0" "6098" "0" "c.6098T>C" "r.(?)" "p.(Leu2033Pro)" ""
"0000956497" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[(=,5585_5714del)]" "p.[(=,Glu1863Leufs*33)]" ""
"0000956498" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" ""
"0000956499" "00001847" "90" "3191" "-1" "3191" "-1" "c.3191-1G>T" "r.spl" "p.?" ""
"0000956500" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.[(2588g>c,2588_2590del)]" "p.[(Gly863Ala,Gly863del)]" ""
"0000956501" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.[(2588g>c,2588_2590del)]" "p.[(Gly863Ala,Gly863del)]" ""
"0000956502" "00001847" "90" "454" "0" "454" "0" "c.454C>T" "r.(?)" "p.(Arg152Ter)" ""
"0000956503" "00001847" "50" "6148" "0" "6148" "0" "c.6148G>C" "r.spl?" "p.(?,Val2050Leu)" ""
"0000956504" "00001847" "90" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" ""
"0000956505" "00001847" "90" "4539" "2028" "4539" "2028" "c.4539+2028C>T" "r.[(=,4539_4540ins4539+1891_4540-2162)]" "p.[(=,Arg1514Leufs*36)]" ""
"0000956506" "00001847" "90" "4539" "2028" "4539" "2028" "c.4539+2028C>T" "r.[(=,4539_4540ins4539+1891_4540-2162)]" "p.[(=,Arg1514Leufs*36)]" ""
"0000956507" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000956508" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000956509" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" ""
"0000956510" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.[(2588g>c,2588_2590del)]" "p.[(Gly863Ala,Gly863del)]" ""
"0000956511" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[(5461_5714del,5461_5584del)]" "p.[(Thr1821Aspfs*6,Thr1821Valfs*13)]" ""
"0000956512" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000956513" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[(=,5585_5714del)]" "p.[(=,Glu1863Leufs*33)]" ""
"0000956514" "00001847" "50" "6376" "0" "6376" "0" "c.6376A>G" "r.(?)" "p.(Thr2126Ala)" ""
"0000956515" "00001847" "90" "2345" "0" "2345" "0" "c.2345G>A" "r.(?)" "p.(Trp782Ter)" ""
"0000956516" "00001847" "50" "740" "0" "740" "0" "c.740A>C" "r.(?)" "p.(Asn247Thr)" ""
"0000956517" "00001847" "90" "6415" "0" "6415" "0" "c.6415C>T" "r.(?)" "p.(Arg2139Trp)" ""
"0000956518" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000956519" "00001847" "90" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" ""
"0000956520" "00001847" "90" "2239" "0" "2239" "0" "c.2239del" "r.(?)" "p.(Leu747CysfsTer40)" ""
"0000956521" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[(5461_5714del,5461_5584del)]" "p.[(Thr1821Aspfs*6,Thr1821Valfs*13)]" ""
"0000956522" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[(5461_5714del,5461_5584del)]" "p.[(Thr1821Aspfs*6,Thr1821Valfs*13)]" ""
"0000956523" "00001847" "90" "5018" "5" "5018" "5" "c.5018+5G>A" "r.(4849_5018del)" "p.(Val1617Alafs*113)" ""
"0000956524" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000956525" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[(=,5585_5714del)]" "p.[(=,Glu1863Leufs*33)]" ""
"0000956526" "00001847" "90" "5161" "0" "5162" "0" "c.5161_5162del" "r.(?)" "p.(Thr1721HisfsTer65)" ""
"0000956527" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[(=,5585_5714del)]" "p.[(=,Glu1863Leufs*33)]" ""
"0000956528" "00001847" "50" "3091" "0" "3091" "0" "c.3091A>T" "r.(?)" "p.(Lys1031Ter)" ""
"0000956529" "00001847" "90" "6118" "0" "6118" "0" "c.6118C>T" "r.(?)" "p.(Arg2040Ter)" ""
"0000956530" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000956531" "00001847" "70" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" ""
"0000956532" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[(5461_5714del,5461_5584del)]" "p.[(Thr1821Aspfs*6,Thr1821Valfs*13)]" ""
"0000956533" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000956534" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.[(2588g>c,2588_2590del)]" "p.[(Gly863Ala,Gly863del)]" ""
"0000956535" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[(=,5585_5714del)]" "p.[(=,Glu1863Leufs*33)]" ""
"0000956536" "00001847" "70" "6209" "0" "6209" "0" "c.6209C>G" "r.(?)" "p.(Thr2070Arg)" ""
"0000956537" "00001847" "90" "666" "0" "678" "0" "c.666_678del" "r.(?)" "p.(Lys223MetfsTer14)" ""
"0000956538" "00001847" "50" "455" "0" "455" "0" "c.455G>A" "r.(?)" "p.(Arg152Gln)" ""
"0000956539" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[(=,5585_5714del)]" "p.[(=,Glu1863Leufs*33)]" ""
"0000956540" "00001847" "70" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" ""
"0000956541" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[(5461_5714del,5461_5584del)]" "p.[(Thr1821Aspfs*6,Thr1821Valfs*13)]" ""
"0000956542" "00001847" "90" "885" "0" "885" "0" "c.885del" "r.(?)" "p.(Leu296CysfsTer4)" ""
"0000956543" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.(768_769ins769+1_769+30)" "p.(Leu257Valfs*17)" ""
"0000956544" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000956545" "00001847" "90" "4538" "0" "4538" "0" "c.4538A>G" "r.[(4539_4540ins4540+1_4530+30,4467_4539del)]" "p.[(Arg1513_Arg1514ins10,Cys1490Glufs*12)]" ""
"0000956546" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[(5461_5714del,5461_5584del)]" "p.[(Thr1821Aspfs*6,Thr1821Valfs*13)]" ""
"0000956547" "00001847" "90" "5899" "-3" "5899" "-2" "c.5899-3_5899-2del" "r.spl" "p.?" ""
"0000956548" "00001847" "70" "6709" "0" "6709" "0" "c.6709A>C" "r.(?)" "p.(Thr2237Pro)" ""
"0000956549" "00001847" "50" "5693" "0" "5693" "0" "c.5693G>A" "r.(?)" "p.(Arg1898His)" ""
"0000956550" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[(5461_5714del,5461_5584del)]" "p.[(Thr1821Aspfs*6,Thr1821Valfs*13)]" ""
"0000956551" "00001847" "90" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.[(=,5196_5197ins5196+1140_5196+1212)]" "p.[(=,Met1733Glufs*78)]" ""
"0000956552" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000956553" "00001847" "50" "3758" "0" "3758" "0" "c.3758C>T" "r.(?)" "p.(Thr1253Met)" ""
"0000956554" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000956555" "00001847" "90" "6449" "0" "6449" "0" "c.6449G>A" "r.(?)" "p.(Cys2150Tyr)" ""
"0000956556" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[(5461_5714del,5461_5584del)]" "p.[(Thr1821Aspfs*6,Thr1821Valfs*13)]" ""
"0000956557" "00001847" "90" "6005" "1" "6005" "1" "c.6005+1G>T" "r.spl" "p.?" ""
"0000956558" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[(5461_5714del,5461_5584del)]" "p.[(Thr1821Aspfs*6,Thr1821Valfs*13)]" ""
"0000956559" "00001847" "90" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" ""
"0000956560" "00001847" "90" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" ""
"0000956561" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000956562" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" ""
"0000956563" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[(5461_5714del,5461_5584del)]" "p.[(Thr1821Aspfs*6,Thr1821Valfs*13)]" ""
"0000956564" "00001847" "70" "5088" "0" "5088" "0" "c.5088C>G" "r.(?)" "p.(Ser1696Arg)" ""
"0000956565" "00001847" "70" "5088" "0" "5088" "0" "c.5088C>G" "r.(?)" "p.(Ser1696Arg)" ""
"0000956566" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000956567" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[(5461_5714del,5461_5584del)]" "p.[(Thr1821Aspfs*6,Thr1821Valfs*13)]" ""
"0000956568" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000956569" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[(5461_5714del,5461_5584del)]" "p.[(Thr1821Aspfs*6,Thr1821Valfs*13)]" ""
"0000956570" "00001847" "90" "3898" "0" "3898" "0" "c.3898C>T" "r.(?)" "p.(Arg1300Ter)" ""
"0000956571" "00001847" "90" "6658" "0" "6658" "0" "c.6658C>T" "r.(?)" "p.(Gln2220Ter)" ""
"0000956572" "00001847" "90" "4070" "0" "4070" "0" "c.4070C>T" "r.(?)" "p.(Ala1357Val)" ""
"0000956573" "00001847" "90" "2915" "0" "2915" "0" "c.2915C>A" "r.(?)" "p.(Thr972Asn)" ""
"0000956574" "00001847" "70" "3299" "0" "3299" "0" "c.3299T>A" "r.(?)" "p.(Ile1100Asn)" ""
"0000956575" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000956576" "00001847" "90" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071CysfsTer14)" ""
"0000956577" "00001847" "90" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.[(=,5196_5197ins5196+1140_5196+1212)]" "p.[(=,Met1733Glufs*78)]" ""
"0000956578" "00001847" "50" "5177" "0" "5177" "0" "c.5177C>A" "r.(?)" "p.(Thr1726Asn)" ""
"0000956579" "00001847" "30" "2828" "0" "2828" "0" "c.2828G>A" "r.(?)" "p.(Arg943Gln)" ""
"0000956580" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.(768_769ins769+1_769+30)" "p.(Leu257Valfs*17)" ""
"0000956581" "00001847" "30" "2828" "0" "2828" "0" "c.2828G>A" "r.(?)" "p.(Arg943Gln)" ""
"0000956582" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.(768_769ins769+1_769+30)" "p.(Leu257Valfs*17)" ""
"0000956583" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" ""
"0000956584" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[(=,5585_5714del)]" "p.[(=,Glu1863Leufs*33)]" ""
"0000956585" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" ""
"0000956586" "00001847" "90" "4601" "0" "4601" "0" "c.4601del" "r.(?)" "p.(Leu1534TrpfsTer2)" ""
"0000956587" "00001847" "90" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" ""
"0000956588" "00001847" "50" "5527" "0" "5527" "0" "c.5527C>G" "r.(?)" "p.(Arg1843Gly)" ""
"0000956589" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000956590" "00001847" "90" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" ""
"0000956591" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" ""
"0000956592" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" ""
"0000956593" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000956594" "00001847" "90" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" ""
"0000956595" "00001847" "90" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" ""
"0000956596" "00001847" "90" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" ""
"0000956597" "00001847" "90" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" ""
"0000956598" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[(5461_5714del,5461_5584del)]" "p.[(Thr1821Aspfs*6,Thr1821Valfs*13)]" ""
"0000956599" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.[(2588g>c,2588_2590del)]" "p.[(Gly863Ala,Gly863del)]" ""
"0000956600" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.(768_769ins769+1_769+30)" "p.(Leu257Valfs*17)" ""
"0000956601" "00001847" "90" "6449" "0" "6449" "0" "c.6449G>A" "r.(?)" "p.(Cys2150Tyr)" ""
"0000956602" "00001847" "90" "6329" "0" "6329" "0" "c.6329G>A" "r.(?)" "p.(Trp2110Ter)" ""
"0000956603" "00001847" "50" "5396" "0" "5396" "0" "c.5396A>G" "r.(?)" "p.(Asn1799Ser)" ""
"0000956604" "00001847" "90" "4462" "0" "4462" "0" "c.4462T>C" "r.(?)" "p.(Cys1488Arg)" ""
"0000956605" "00001847" "90" "4462" "0" "4462" "0" "c.4462T>C" "r.(?)" "p.(Cys1488Arg)" ""
"0000956606" "00001847" "90" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" ""
"0000956607" "00001847" "90" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" ""
"0000956608" "00001847" "50" "656" "0" "656" "0" "c.656G>C" "r.(?)" "p.(Arg219Thr)" ""
"0000956609" "00001847" "90" "6449" "0" "6449" "0" "c.6449G>A" "r.(?)" "p.(Cys2150Tyr)" ""
"0000956610" "00001847" "90" "5281" "0" "5289" "0" "c.5281_5289del" "r.(?)" "p.(Pro1761_Leu1763del)" ""
"0000956611" "00001847" "90" "4537" "0" "4537" "0" "c.4537dup" "r.(?)" "p.(Gln1513ProfsTer42)" ""
"0000956612" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000956613" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000956614" "00001847" "50" "6148" "0" "6148" "0" "c.6148G>C" "r.spl?" "p.(?,Val2050Leu)" ""
"0000956615" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[(5461_5714del,5461_5584del)]" "p.[(Thr1821Aspfs*6,Thr1821Valfs*13)]" ""
"0000956616" "00001847" "90" "859" "-9" "859" "-9" "c.859-9T>C" "r.[(=,859_1356del)]" "p.[(=,Phe287_Arg452del)]" ""
"0000956617" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000956618" "00001847" "50" "5908" "0" "5908" "0" "c.5908C>T" "r.(?)" "p.(Leu1970Phe)" ""
"0000956619" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" ""
"0000956620" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.[(2588g>c,2588_2590del)]" "p.[(Gly863Ala,Gly863del)]" ""
"0000956621" "00001847" "90" "71" "0" "71" "0" "c.71G>A" "r.(?)" "p.(Arg24His)" ""
"0000956622" "00001847" "90" "5018" "2" "5018" "2" "c.5018+2T>C" "r.spl" "p.?" ""
"0000956623" "00001847" "90" "6385" "0" "6385" "0" "c.6385A>G" "r.(6340_6386del)" "p.(Val2114Hisfs*4)" ""
"0000956624" "00001847" "90" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" ""
"0000956625" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000956626" "00001847" "90" "5899" "-3" "5899" "-2" "c.5899-3_5899-2del" "r.spl" "p.?" ""
"0000956627" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000956628" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000956629" "00001847" "90" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071CysfsTer14)" ""
"0000956630" "00001847" "90" "2568" "0" "2568" "0" "c.2568C>A" "r.(?)" "p.(Tyr856Ter)" ""
"0000956631" "00001847" "90" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" ""
"0000956632" "00001847" "70" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" ""
"0000956633" "00001847" "90" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" ""
"0000956634" "00001847" "90" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" ""
"0000956635" "00001847" "90" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" ""
"0000956636" "00001847" "70" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" ""
"0000956637" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000956638" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000956639" "00001847" "90" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973Ter)" ""
"0000956640" "00001847" "90" "6712" "0" "6712" "0" "c.6712C>T" "r.(?)" "p.(Gln2238Ter)" ""
"0000956641" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[(5461_5714del,5461_5584del)]" "p.[(Thr1821Aspfs*6,Thr1821Valfs*13)]" ""
"0000956642" "00001847" "90" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" ""
"0000956643" "00001847" "90" "93" "0" "93" "0" "c.93G>A" "r.(?)" "p.(Trp31Ter)" ""
"0000956644" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000956645" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[(5461_5714del,5461_5584del)]" "p.[(Thr1821Aspfs*6,Thr1821Valfs*13)]" ""
"0000956646" "00001847" "90" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" ""
"0000956647" "00001847" "50" "6148" "0" "6148" "0" "c.6148G>C" "r.spl?" "p.(?,Val2050Leu)" ""
"0000956648" "00001847" "90" "4222" "0" "4222" "0" "c.4222T>C" "r.(?)" "p.(Trp1408Arg)" ""
"0000956649" "00001847" "90" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" ""
"0000956650" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.(768_769ins769+1_769+30)" "p.(Leu257Valfs*17)" ""
"0000956651" "00001847" "90" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" ""
"0000956652" "00001847" "90" "2966" "0" "2966" "0" "c.2966T>C" "r.(?)" "p.(Val989Ala)" ""
"0000956653" "00001847" "50" "3608" "0" "3608" "0" "c.3608G>A" "r.[(3608g>a,3608_3813del)]" "p.[(Gly1203Glu,Gly1203Aspfs*10)]" ""
"0000956654" "00001847" "50" "5463" "0" "5463" "0" "c.5463G>A" "r.spl?" "p.(Thr1821=)" ""
"0000956655" "00001847" "90" "6449" "0" "6449" "0" "c.6449G>A" "r.(?)" "p.(Cys2150Tyr)" ""
"0000956656" "00001847" "90" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" ""
"0000956657" "00001847" "50" "4957" "0" "4957" "0" "c.4957G>A" "r.(?)" "p.(Gly1653Arg)" ""
"0000956658" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[(=,5585_5714del)]" "p.[(=,Glu1863Leufs*33)]" ""
"0000956659" "00001847" "90" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" ""
"0000956660" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000956661" "00001847" "90" "4328" "0" "4328" "0" "c.4328G>A" "r.(?)" "p.(Arg1443His)" ""
"0000956662" "00001847" "90" "4328" "0" "4328" "0" "c.4328G>A" "r.(?)" "p.(Arg1443His)" ""
"0000956663" "00001847" "90" "4222" "0" "4222" "0" "c.4222T>C" "r.(?)" "p.(Trp1408Arg)" ""
"0000956664" "00001847" "90" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" ""
"0000956665" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000956666" "00001847" "90" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" ""
"0000956667" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[(5461_5714del,5461_5584del)]" "p.[(Thr1821Aspfs*6,Thr1821Valfs*13)]" ""
"0000956668" "00001847" "50" "4771" "0" "4771" "0" "c.4771G>A" "r.spl?" "p.(Gly1591Arg)" ""
"0000956669" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[(5461_5714del,5461_5584del)]" "p.[(Thr1821Aspfs*6,Thr1821Valfs*13)]" ""
"0000956670" "00001847" "90" "5315" "0" "5315" "0" "c.5315G>A" "r.spl?" "p.(Trp1772Ter)" ""
"0000956671" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000956672" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000956673" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000956674" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000956675" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000956676" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[(5461_5714del,5461_5584del)]" "p.[(Thr1821Aspfs*6,Thr1821Valfs*13)]" ""
"0000956677" "00001847" "70" "6729" "5" "6729" "19" "c.6729+5_6729+19del" "r.(6480_6729del)" "p.(Phe2161Cysfs*3)" ""
"0000956678" "00001847" "90" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" ""
"0000956679" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" ""
"0000956680" "00001847" "90" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.[(=,5196_5197ins5196+1140_5196+1212)]" "p.[(=,Met1733Glufs*78)]" ""
"0000956681" "00001847" "90" "3208" "0" "3209" "0" "c.3208_3209insGT" "r.(?)" "p.(Leu1070ArgfsTer15)" ""
"0000956682" "00001847" "30" "6529" "0" "6529" "0" "c.6529G>A" "r.(?)" "p.(Asp2177Asn)" ""
"0000956683" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.(768_769ins769+1_769+30)" "p.(Leu257Valfs*17)" ""
"0000956684" "00001847" "70" "658" "0" "658" "0" "c.658C>T" "r.(?)" "p.(Arg220Cys)" ""
"0000956685" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000956686" "00001847" "90" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" ""
"0000956687" "00001847" "70" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" ""
"0000956688" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000956689" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" ""
"0000956690" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[(5461_5714del,5461_5584del)]" "p.[(Thr1821Aspfs*6,Thr1821Valfs*13)]" ""
"0000956691" "00001847" "50" "1356" "1" "1356" "1" "c.1356+1G>A" "r.spl" "p.?" ""
"0000956692" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[(=,5585_5714del)]" "p.[(=,Glu1863Leufs*33)]" ""
"0000956693" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" ""
"0000956694" "00001847" "90" "3364" "0" "3364" "0" "c.3364G>A" "r.(?)" "p.(Glu1122Lys)" ""
"0000956695" "00001847" "90" "6088" "0" "6088" "0" "c.6088C>T" "r.(?)" "p.(Arg2030Ter)" ""
"0000956696" "00001847" "90" "5114" "0" "5114" "0" "c.5114G>A" "r.(?)" "p.(Arg1705Gln)" ""
"0000956697" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000956698" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.(768_769ins769+1_769+30)" "p.(Leu257Valfs*17)" ""
"0000956699" "00001847" "50" "6523" "0" "6523" "0" "c.6523A>T" "r.(?)" "p.(Lys2175Ter)" ""
"0000956700" "00001847" "70" "4216" "0" "4216" "0" "c.4216C>T" "r.(?)" "p.(His1406Tyr)" ""
"0000956701" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[(5461_5714del,5461_5584del)]" "p.[(Thr1821Aspfs*6,Thr1821Valfs*13)]" ""
"0000956702" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[(5461_5714del,5461_5584del)]" "p.[(Thr1821Aspfs*6,Thr1821Valfs*13)]" ""
"0000956703" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[(5461_5714del,5461_5584del)]" "p.[(Thr1821Aspfs*6,Thr1821Valfs*13)]" ""
"0000956704" "00001847" "90" "655" "0" "655" "0" "c.655A>T" "r.(?)" "p.(Arg219Ter)" ""
"0000956705" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[(5461_5714del,5461_5584del)]" "p.[(Thr1821Aspfs*6,Thr1821Valfs*13)]" ""
"0000956706" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[(5461_5714del,5461_5584del)]" "p.[(Thr1821Aspfs*6,Thr1821Valfs*13)]" ""
"0000956707" "00001847" "90" "3364" "0" "3364" "0" "c.3364G>A" "r.(?)" "p.(Glu1122Lys)" ""
"0000956708" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.[(2588g>c,2588_2590del)]" "p.[(Gly863Ala,Gly863del)]" ""
"0000956709" "00001847" "50" "6227" "0" "6227" "0" "c.6227A>C" "r.(?)" "p.(Lys2076Thr)" ""
"0000956710" "00001847" "70" "6286" "0" "6286" "0" "c.6286G>A" "r.(?)" "p.(Glu2096Lys)" ""
"0000956711" "00001847" "70" "3233" "0" "3233" "0" "c.3233G>A" "r.(?)" "p.(Gly1078Glu)" ""
"0000956712" "00001847" "70" "6286" "0" "6286" "0" "c.6286G>A" "r.(?)" "p.(Glu2096Lys)" ""
"0000956713" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[(=,5585_5714del)]" "p.[(=,Glu1863Leufs*33)]" ""
"0000956714" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[(=,5585_5714del)]" "p.[(=,Glu1863Leufs*33)]" ""
"0000956715" "00001847" "90" "6098" "0" "6098" "0" "c.6098T>G" "r.(?)" "p.(Leu2033Arg)" ""
"0000956716" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.[(2588g>c,2588_2590del)]" "p.[(Gly863Ala,Gly863del)]" ""
"0000956717" "00001847" "90" "4594" "0" "4594" "0" "c.4594G>A" "r.(?)" "p.(Asp1532Asn)" ""
"0000956718" "00001847" "90" "4363" "0" "4363" "0" "c.4363T>C" "r.(?)" "p.(Cys1455Arg)" ""
"0000956719" "00001847" "50" "4773" "0" "4773" "0" "c.4773G>A" "r.(?)" "p.(Gly1591=)" ""
"0000956720" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.[(2588g>c,2588_2590del)]" "p.[(Gly863Ala,Gly863del)]" ""
"0000956721" "00001847" "90" "6449" "0" "6449" "0" "c.6449G>A" "r.(?)" "p.(Cys2150Tyr)" ""
"0000956722" "00001847" "90" "6449" "0" "6449" "0" "c.6449G>A" "r.(?)" "p.(Cys2150Tyr)" ""
"0000956723" "00001847" "90" "6449" "0" "6449" "0" "c.6449G>A" "r.(?)" "p.(Cys2150Tyr)" ""
"0000956724" "00001847" "70" "5281" "0" "5289" "0" "c.5281_5289del" "r.(?)" "p.(Pro1761_Leu1763del)" ""
"0000956725" "00001847" "70" "5044" "0" "5058" "0" "c.5044_5058del" "r.(?)" "p.(Val1682_Val1686del)" ""
"0000956726" "00001847" "90" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" ""
"0000956727" "00001847" "90" "4537" "0" "4537" "0" "c.4537dup" "r.(?)" "p.(Gln1513ProfsTer42)" ""
"0000956728" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[(5461_5714del,5461_5584del)]" "p.[(Thr1821Aspfs*6,Thr1821Valfs*13)]" ""
"0000956729" "00001847" "50" "5693" "0" "5693" "0" "c.5693G>A" "r.(?)" "p.(Arg1898His)" ""
"0000956730" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000956731" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000956732" "00001847" "50" "3840" "0" "3845" "0" "c.3840_3845del" "r.(?)" "p.(Asp1281_Ser1282del)" ""
"0000956733" "00001847" "50" "5560" "0" "5560" "0" "c.5560G>T" "r.(?)" "p.(Val1854Leu)" ""
"0000956734" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000956735" "00001847" "90" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" ""
"0000956736" "00001847" "90" "6088" "0" "6088" "0" "c.6088C>T" "r.(?)" "p.(Arg2030Ter)" ""
"0000956737" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[(=,5585_5714del)]" "p.[(=,Glu1863Leufs*33)]" ""
"0000956738" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000956739" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.[(2588g>c,2588_2590del)]" "p.[(Gly863Ala,Gly863del)]" ""
"0000956740" "00001847" "90" "4594" "0" "4594" "0" "c.4594G>A" "r.(?)" "p.(Asp1532Asn)" ""
"0000956741" "00001847" "50" "5693" "0" "5693" "0" "c.5693G>A" "r.(?)" "p.(Arg1898His)" ""
"0000956742" "00001847" "90" "5761" "0" "5761" "0" "c.5761G>A" "r.(?)" "p.(Val1921Met)" ""
"0000956743" "00001847" "70" "5281" "0" "5289" "0" "c.5281_5289del" "r.(?)" "p.(Pro1761_Leu1763del)" ""
"0000956744" "00001847" "70" "5281" "0" "5289" "0" "c.5281_5289del" "r.(?)" "p.(Pro1761_Leu1763del)" ""
"0000956745" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[(5461_5714del,5461_5584del)]" "p.[(Thr1821Aspfs*6,Thr1821Valfs*13)]" ""
"0000956746" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.(768_769ins769+1_769+30)" "p.(Leu257Valfs*17)" ""
"0000956747" "00001847" "50" "3758" "0" "3758" "0" "c.3758C>T" "r.(?)" "p.(Thr1253Met)" ""
"0000956748" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000956749" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000956750" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000956751" "00001847" "90" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" ""
"0000956752" "00001847" "90" "712" "0" "712" "0" "c.712C>T" "r.(?)" "p.(Gln238Ter)" ""
"0000956753" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[(5461_5714del,5461_5584del)]" "p.[(Thr1821Aspfs*6,Thr1821Valfs*13)]" ""
"0000956754" "00001847" "90" "93" "0" "93" "0" "c.93G>A" "r.(?)" "p.(Trp31Ter)" ""
"0000956755" "00001847" "90" "93" "0" "93" "0" "c.93G>A" "r.(?)" "p.(Trp31Ter)" ""
"0000956756" "00001847" "90" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" ""
"0000956757" "00001847" "50" "4685" "0" "4685" "0" "c.4685T>C" "r.(?)" "p.(Ile1562Thr)" ""
"0000956758" "00001847" "90" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.[(=,5196_5197ins5196+1140_5196+1212)]" "p.[(=,Met1733Glufs*78)]" ""
"0000956759" "00001847" "90" "4594" "0" "4594" "0" "c.4594G>A" "r.(?)" "p.(Asp1532Asn)" ""
"0000956760" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000956761" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000956762" "00001847" "50" "5196" "1217" "5196" "1217" "c.5196+1217C>T" "r.spl?" "p.(?)" ""
"0000956763" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000956764" "00001847" "90" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" ""
"0000956765" "00001847" "90" "735" "0" "735" "0" "c.735T>G" "r.(?)" "p.(Tyr245Ter)" ""
"0000956766" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" ""
"0000956767" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" ""
"0000956768" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.[(2588g>c,2588_2590del)]" "p.[(Gly863Ala,Gly863del)]" ""
"0000956769" "00001847" "90" "4519" "0" "4519" "0" "c.4519G>A" "r.(?)" "p.(Gly1507Arg)" ""
"0000956770" "00001847" "90" "4722" "0" "4722" "0" "c.4722del" "r.(?)" "p.(Ala1575HisfsTer6)" ""
"0000956771" "00001847" "90" "71" "0" "71" "0" "c.71G>A" "r.(?)" "p.(Arg24His)" ""
"0000956772" "00001847" "90" "6658" "0" "6658" "0" "c.6658C>T" "r.(?)" "p.(Gln2220Ter)" ""
"0000956773" "00001847" "90" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" ""
"0000956774" "00001847" "90" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" ""
"0000956775" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000956776" "00001847" "70" "5318" "0" "5318" "0" "c.5318C>A" "r.(?)" "p.(Ala1773Glu)" ""
"0000956777" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000956778" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[(=,5585_5714del)]" "p.[(=,Glu1863Leufs*33)]" ""
"0000956779" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[(5461_5714del,5461_5584del)]" "p.[(Thr1821Aspfs*6,Thr1821Valfs*13)]" ""
"0000956780" "00001847" "90" "834" "0" "834" "0" "c.834del" "r.(?)" "p.(Asp279IlefsTer21)" ""
"0000956781" "00001847" "90" "834" "0" "834" "0" "c.834del" "r.(?)" "p.(Asp279IlefsTer21)" ""
"0000956782" "00001847" "70" "6286" "0" "6286" "0" "c.6286G>A" "r.(?)" "p.(Glu2096Lys)" ""
"0000956783" "00001847" "90" "571" "-1" "571" "-1" "c.571-1G>T" "r.spl" "p.?" ""
"0000956784" "00001847" "70" "5578" "0" "5578" "0" "c.5578C>T" "r.(?)" "p.(Arg1860Trp)" ""
"0000956785" "00001847" "70" "5578" "0" "5578" "0" "c.5578C>T" "r.(?)" "p.(Arg1860Trp)" ""
"0000956786" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000956787" "00001847" "70" "5113" "0" "5113" "0" "c.5113C>T" "r.(?)" "p.(Arg1705Trp)" ""
"0000956788" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.(768_769ins769+1_769+30)" "p.(Leu257Valfs*17)" ""
"0000956789" "00001847" "90" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" ""
"0000956790" "00001847" "90" "5161" "0" "5162" "0" "c.5161_5162del" "r.(?)" "p.(Thr1721HisfsTer65)" ""
"0000956791" "00001847" "90" "5161" "0" "5162" "0" "c.5161_5162del" "r.(?)" "p.(Thr1721HisfsTer65)" ""
"0000956792" "00001847" "90" "2966" "0" "2966" "0" "c.2966T>C" "r.(?)" "p.(Val989Ala)" ""
"0000956793" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000956794" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[(5461_5714del,5461_5584del)]" "p.[(Thr1821Aspfs*6,Thr1821Valfs*13)]" ""
"0000956795" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000956796" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.(768_769ins769+1_769+30)" "p.(Leu257Valfs*17)" ""
"0000956797" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000956798" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.(768_769ins769+1_769+30)" "p.(Leu257Valfs*17)" ""
"0000956799" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.[(2588g>c,2588_2590del)]" "p.[(Gly863Ala,Gly863del)]" ""
"0000956800" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000956801" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000956802" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[(=,5585_5714del)]" "p.[(=,Glu1863Leufs*33)]" ""
"0000956803" "00001847" "70" "6729" "5" "6729" "19" "c.6729+5_6729+19del" "r.(6480_6729del)" "p.(Phe2161Cysfs*3)" ""
"0000956804" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000956805" "00001847" "90" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071CysfsTer14)" ""
"0000956806" "00001847" "90" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" ""
"0000956807" "00001847" "90" "286" "0" "286" "0" "c.286A>G" "r.(?)" "p.(Asn96Asp)" ""
"0000956808" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.[(2588g>c,2588_2590del)]" "p.[(Gly863Ala,Gly863del)]" ""
"0000956809" "00001847" "90" "859" "-9" "859" "-9" "c.859-9T>C" "r.[(=,859_1356del)]" "p.[(=,Phe287_Arg452del)]" ""
"0000956810" "00001847" "70" "6817" "-2" "6817" "-2" "c.6817-2A>C" "r.spl" "p.?" ""
"0000956811" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[(5461_5714del,5461_5584del)]" "p.[(Thr1821Aspfs*6,Thr1821Valfs*13)]" ""
"0000956812" "00001847" "90" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.[(=,5196_5197ins5196+1140_5196+1212)]" "p.[(=,Met1733Glufs*78)]" ""
"0000956813" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000956814" "00001847" "70" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" ""
"0000956815" "00001847" "70" "926" "0" "926" "0" "c.926C>G" "r.(?)" "p.(Pro309Arg)" ""
"0000956816" "00001847" "70" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" ""
"0000956817" "00001847" "70" "926" "0" "926" "0" "c.926C>G" "r.(?)" "p.(Pro309Arg)" ""
"0000956818" "00001847" "90" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" ""
"0000956819" "00001847" "90" "93" "0" "93" "0" "c.93G>A" "r.(?)" "p.(Trp31Ter)" ""
"0000956820" "00001847" "90" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" ""
"0000956821" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" ""
"0000956822" "00001847" "50" "5056" "0" "5056" "0" "c.5056G>A" "r.(?)" "p.(Val1686Met)" ""
"0000956823" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000956824" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[(=,5585_5714del)]" "p.[(=,Glu1863Leufs*33)]" ""
"0000956825" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000956826" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[(=,5585_5714del)]" "p.[(=,Glu1863Leufs*33)]" ""
"0000956827" "00001847" "50" "4253" "43" "4253" "43" "c.4253+43G>A" "r.[(=,4129_4253del)]" "p.[(=,Ile1377Hisfs*3)]" ""
"0000956828" "00001847" "50" "6148" "0" "6148" "0" "c.6148G>C" "r.spl?" "p.(?,Val2050Leu)" ""
"0000956829" "00001847" "70" "5308" "0" "5308" "0" "c.5308T>G" "r.(?)" "p.(Tyr1770Asp)" ""
"0000956830" "00001847" "70" "67" "-2" "67" "-2" "c.67-2A>G" "r.spl" "p.?" ""
"0000956831" "00001847" "90" "4222" "0" "4222" "0" "c.4222T>C" "r.(?)" "p.(Trp1408Arg)" ""
"0000956832" "00001847" "90" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" ""
"0000956833" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[(5461_5714del,5461_5584del)]" "p.[(Thr1821Aspfs*6,Thr1821Valfs*13)]" ""
"0000956834" "00001847" "90" "4539" "2028" "4539" "2028" "c.4539+2028C>T" "r.[(=,4539_4540ins4539+1891_4540-2162)]" "p.[(=,Arg1514Leufs*36)]" ""
"0000956835" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000956836" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000956837" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.[(2588g>c,2588_2590del)]" "p.[(Gly863Ala,Gly863del)]" ""
"0000956838" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000956839" "00001847" "90" "6709" "0" "6709" "0" "c.6709dup" "r.(?)" "p.(Thr2237AsnfsTer14)" ""
"0000956840" "00001847" "90" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" ""
"0000956841" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000956842" "00001847" "70" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" ""
"0000956843" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[(5461_5714del,5461_5584del)]" "p.[(Thr1821Aspfs*6,Thr1821Valfs*13)]" ""
"0000956844" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[(5461_5714del,5461_5584del)]" "p.[(Thr1821Aspfs*6,Thr1821Valfs*13)]" ""
"0000956845" "00001847" "90" "5196" "1" "5196" "1" "c.5196+1G>A" "r.spl" "p.?" ""
"0000956846" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000956847" "00001847" "90" "93" "0" "93" "0" "c.93G>A" "r.(?)" "p.(Trp31Ter)" ""
"0000956848" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000956849" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000956850" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000956851" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000956852" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[(=,5585_5714del)]" "p.[(=,Glu1863Leufs*33)]" ""
"0000956853" "00001847" "50" "618" "0" "618" "0" "c.618C>G" "r.(?)" "p.(Ser206Arg)" ""
"0000956854" "00001847" "70" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" ""
"0000956855" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000956856" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.[(2588g>c,2588_2590del)]" "p.[(Gly863Ala,Gly863del)]" ""
"0000956857" "00001847" "90" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.[(=,5196_5197ins5196+1140_5196+1212)]" "p.[(=,Met1733Glufs*78)]" ""
"0000956858" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000956859" "00001847" "90" "6119" "0" "6119" "0" "c.6119G>A" "r.(?)" "p.(Arg2040Gln)" ""
"0000956860" "00001847" "90" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" ""
"0000956861" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000956862" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[(=,5585_5714del)]" "p.[(=,Glu1863Leufs*33)]" ""
"0000956863" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000956864" "00001847" "50" "4715" "0" "4715" "0" "c.4715C>T" "r.(?)" "p.(Thr1572Met)" ""
"0000956865" "00001847" "90" "3364" "0" "3364" "0" "c.3364G>A" "r.(?)" "p.(Glu1122Lys)" ""
"0000956866" "00001847" "90" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" ""
"0000956867" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" ""
"0000956868" "00001847" "70" "6729" "5" "6729" "19" "c.6729+5_6729+19del" "r.(6480_6729del)" "p.(Phe2161Cysfs*3)" ""
"0000956869" "00001847" "90" "4793" "0" "4793" "0" "c.4793C>A" "r.(?)" "p.(Ala1598Asp)" ""
"0000956870" "00001847" "90" "5645" "0" "5645" "0" "c.5645T>C" "r.(?)" "p.(Met1882Thr)" ""
"0000956871" "00001847" "90" "6658" "0" "6658" "0" "c.6658C>T" "r.(?)" "p.(Gln2220Ter)" ""
"0000956872" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000956873" "00001847" "70" "6729" "5" "6729" "19" "c.6729+5_6729+19del" "r.(6480_6729del)" "p.(Phe2161Cysfs*3)" ""
"0000956874" "00001847" "90" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.[(=,5196_5197ins5196+1140_5196+1212)]" "p.[(=,Met1733Glufs*78)]" ""
"0000956875" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[(=,5585_5714del)]" "p.[(=,Glu1863Leufs*33)]" ""
"0000956876" "00001847" "50" "2588" "0" "2588" "0" "c.2588G>A" "r.spl?" "p.(Gly863Glu)" ""
"0000956877" "00001847" "90" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.[(=,5196_5197ins5196+1140_5196+1212)]" "p.[(=,Met1733Glufs*78)]" ""
"0000956878" "00001847" "70" "5549" "0" "5549" "0" "c.5549T>C" "r.(?)" "p.(Leu1850Pro)" ""
"0000956879" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000956880" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000956881" "00001847" "90" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.[(=,5196_5197ins5196+1140_5196+1212)]" "p.[(=,Met1733Glufs*78)]" ""
"0000956882" "00001847" "90" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.[(=,5196_5197ins5196+1140_5196+1212)]" "p.[(=,Met1733Glufs*78)]" ""
"0000956883" "00001847" "70" "4739" "0" "4739" "0" "c.4739T>C" "r.(?)" "p.(Leu1580Ser)" ""
"0000956884" "00001847" "90" "4537" "0" "4537" "0" "c.4537dup" "r.(?)" "p.(Gln1513ProfsTer42)" ""
"0000956885" "00001847" "90" "6658" "0" "6658" "0" "c.6658C>T" "r.(?)" "p.(Gln2220Ter)" ""
"0000956886" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" ""
"0000956887" "00001847" "70" "6721" "0" "6721" "0" "c.6721C>G" "r.(?)" "p.(Leu2241Val)" ""
"0000956888" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[(=,5585_5714del)]" "p.[(=,Glu1863Leufs*33)]" ""
"0000956889" "00001847" "90" "5929" "0" "5929" "0" "c.5929G>A" "r.(?)" "p.(Gly1977Ser)" ""
"0000956890" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000956891" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000956892" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[(=,5585_5714del)]" "p.[(=,Glu1863Leufs*33)]" ""
"0000956893" "00001847" "90" "4222" "0" "4222" "0" "c.4222T>C" "r.(?)" "p.(Trp1408Arg)" ""
"0000956894" "00001847" "90" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" ""
"0000956895" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[(=,5585_5714del)]" "p.[(=,Glu1863Leufs*33)]" ""
"0000956896" "00001847" "90" "3259" "0" "3259" "0" "c.3259G>A" "r.(?)" "p.(Glu1087Lys)" ""
"0000956897" "00001847" "50" "3840" "0" "3845" "0" "c.3840_3845del" "r.(?)" "p.(Asp1281_Ser1282del)" ""
"0000956898" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[(5461_5714del,5461_5584del)]" "p.[(Thr1821Aspfs*6,Thr1821Valfs*13)]" ""
"0000956899" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000956900" "00001847" "90" "6449" "0" "6449" "0" "c.6449G>A" "r.(?)" "p.(Cys2150Tyr)" ""
"0000956901" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000956902" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[(5461_5714del,5461_5584del)]" "p.[(Thr1821Aspfs*6,Thr1821Valfs*13)]" ""
"0000956903" "00001847" "70" "658" "0" "658" "0" "c.658C>T" "r.(?)" "p.(Arg220Cys)" ""
"0000956904" "00001847" "50" "2128" "0" "2128" "0" "c.2128A>G" "r.(?)" "p.(Met710Val)" ""
"0000956905" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.[(2588g>c,2588_2590del)]" "p.[(Gly863Ala,Gly863del)]" ""
"0000956906" "00001847" "90" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" ""
"0000956907" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[(=,5585_5714del)]" "p.[(=,Glu1863Leufs*33)]" ""
"0000956908" "00001847" "90" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973Ter)" ""
"0000956909" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[(5461_5714del,5461_5584del)]" "p.[(Thr1821Aspfs*6,Thr1821Valfs*13)]" ""
"0000956910" "00001847" "70" "6729" "5" "6729" "19" "c.6729+5_6729+19del" "r.(6480_6729del)" "p.(Phe2161Cysfs*3)" ""
"0000956911" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000956912" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000956913" "00001847" "70" "6391" "0" "6391" "0" "c.6391G>A" "r.(?)" "p.(Glu2131Lys)" ""
"0000956914" "00001847" "90" "6088" "0" "6088" "0" "c.6088C>T" "r.(?)" "p.(Arg2030Ter)" ""
"0000956915" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000956916" "00001847" "90" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" ""
"0000956917" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[(=,5585_5714del)]" "p.[(=,Glu1863Leufs*33)]" ""
"0000956918" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000956919" "00001847" "70" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" ""
"0000956920" "00001847" "70" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" ""
"0000956921" "00001847" "50" "3758" "0" "3758" "0" "c.3758C>T" "r.(?)" "p.(Thr1253Met)" ""
"0000956922" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000956923" "00001847" "90" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.[(=,5196_5197ins5196+1140_5196+1212)]" "p.[(=,Met1733Glufs*78)]" ""
"0000956924" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" ""
"0000956925" "00001847" "50" "618" "0" "618" "0" "c.618C>G" "r.(?)" "p.(Ser206Arg)" ""
"0000956926" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000956927" "00001847" "90" "93" "0" "93" "0" "c.93G>A" "r.(?)" "p.(Trp31Ter)" ""
"0000956928" "00001847" "70" "6729" "5" "6729" "19" "c.6729+5_6729+19del" "r.(6480_6729del)" "p.(Phe2161Cysfs*3)" ""
"0000956929" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000956930" "00001847" "70" "868" "0" "868" "0" "c.868C>T" "r.(?)" "p.(Arg290Trp)" ""
"0000956931" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[(5461_5714del,5461_5584del)]" "p.[(Thr1821Aspfs*6,Thr1821Valfs*13)]" ""
"0000956932" "00001847" "30" "1927" "0" "1927" "0" "c.1927G>A" "r.(?)" "p.(Val643Met)" ""
"0000956933" "00001847" "90" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" ""
"0000956934" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[(5461_5714del,5461_5584del)]" "p.[(Thr1821Aspfs*6,Thr1821Valfs*13)]" ""
"0000956935" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000956936" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000956937" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000956938" "00001847" "50" "5721" "0" "5721" "0" "c.5721C>T" "r.(?)" "p.(Ala1907=)" ""
"0000956939" "00001847" "90" "4363" "0" "4363" "0" "c.4363del" "r.(?)" "p.(Cys1455ValfsTer71)" ""
"0000956940" "00001847" "50" "4685" "0" "4685" "0" "c.4685T>C" "r.(?)" "p.(Ile1562Thr)" ""
"0000956941" "00001847" "50" "5908" "0" "5908" "0" "c.5908C>T" "r.(?)" "p.(Leu1970Phe)" ""
"0000956942" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" ""
"0000956943" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000956944" "00001847" "90" "5196" "1216" "5196" "1216" "c.5196+1216C>A" "r.[(=,5196_5197ins5196+1140_5196+1212)]" "p.[(=,Met1733Glufs*78)]" ""
"0000956945" "00001847" "70" "4326" "0" "4326" "0" "c.4326C>A" "r.(?)" "p.(Asn1442Lys)" ""
"0000956946" "00001847" "90" "859" "-9" "859" "-9" "c.859-9T>C" "r.[(=,859_1356del)]" "p.[(=,Phe287_Arg452del)]" ""
"0000956947" "00001847" "90" "5898" "2" "5898" "2" "c.5898+2T>C" "r.spl" "p.?" ""
"0000956948" "00001847" "70" "5196" "1137" "5196" "1137" "c.5196+1137G>C" "r.spl" "p.?" ""
"0000956949" "00001847" "50" "6148" "0" "6148" "0" "c.6148G>C" "r.spl?" "p.(?,Val2050Leu)" ""
"0000956950" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000956951" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.(768_769ins769+1_769+30)" "p.(Leu257Valfs*17)" ""
"0000956952" "00001847" "90" "5898" "1" "5898" "1" "c.5898+1G>A" "r.spl" "p.?" ""
"0000956953" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" ""
"0000956954" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[(5461_5714del,5461_5584del)]" "p.[(Thr1821Aspfs*6,Thr1821Valfs*13)]" ""
"0000956955" "00001847" "70" "6817" "-2" "6817" "-2" "c.6817-2A>C" "r.spl" "p.?" ""
"0000956956" "00001847" "90" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" ""
"0000956957" "00001847" "90" "6118" "0" "6118" "0" "c.6118C>T" "r.(?)" "p.(Arg2040Ter)" ""
"0000956958" "00001847" "90" "6118" "0" "6118" "0" "c.6118C>T" "r.(?)" "p.(Arg2040Ter)" ""
"0000956959" "00001847" "90" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" ""
"0000956960" "00001847" "90" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" ""
"0000956961" "00001847" "90" "6319" "0" "6319" "0" "c.6319C>T" "r.(?)" "p.(Arg2107Cys)" ""
"0000956962" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000956963" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000956964" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" ""
"0000956965" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[(5461_5714del,5461_5584del)]" "p.[(Thr1821Aspfs*6,Thr1821Valfs*13)]" ""
"0000956966" "00001847" "90" "3259" "0" "3259" "0" "c.3259G>A" "r.(?)" "p.(Glu1087Lys)" ""
"0000956967" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" ""
"0000956968" "00001847" "90" "3259" "0" "3259" "0" "c.3259G>A" "r.(?)" "p.(Glu1087Lys)" ""
"0000956969" "00001847" "90" "4539" "2028" "4539" "2028" "c.4539+2028C>T" "r.[(=,4539_4540ins4539+1891_4540-2162)]" "p.[(=,Arg1514Leufs*36)]" ""
"0000956970" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000956971" "00001847" "90" "6118" "0" "6118" "0" "c.6118C>T" "r.(?)" "p.(Arg2040Ter)" ""
"0000956972" "00001847" "90" "6118" "0" "6118" "0" "c.6118C>T" "r.(?)" "p.(Arg2040Ter)" ""
"0000956973" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000956974" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000956975" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[(=,5585_5714del)]" "p.[(=,Glu1863Leufs*33)]" ""
"0000956976" "00001847" "90" "834" "0" "834" "0" "c.834del" "r.(?)" "p.(Asp279IlefsTer21)" ""
"0000956977" "00001847" "90" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" ""
"0000956978" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" ""
"0000956979" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[(=,5585_5714del)]" "p.[(=,Glu1863Leufs*33)]" ""
"0000956980" "00001847" "50" "2690" "0" "2690" "0" "c.2690C>T" "r.(?)" "p.(Thr897Ile)" ""
"0000956981" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[(=,5585_5714del)]" "p.[(=,Glu1863Leufs*33)]" ""
"0000956982" "00001847" "50" "5908" "0" "5908" "0" "c.5908C>T" "r.(?)" "p.(Leu1970Phe)" ""
"0000956983" "00001847" "90" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.[(=,5196_5197ins5196+1140_5196+1212)]" "p.[(=,Met1733Glufs*78)]" ""
"0000956984" "00001847" "50" "6148" "0" "6148" "0" "c.6148G>C" "r.spl?" "p.(?,Val2050Leu)" ""
"0000956985" "00001847" "90" "6449" "0" "6449" "0" "c.6449G>A" "r.(?)" "p.(Cys2150Tyr)" ""
"0000956986" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.(768_769ins769+1_769+30)" "p.(Leu257Valfs*17)" ""
"0000956987" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" ""
"0000956988" "00001847" "90" "3056" "0" "3056" "0" "c.3056C>T" "r.(?)" "p.(Thr1019Met)" ""
"0000956989" "00001847" "90" "655" "0" "655" "0" "c.655A>T" "r.(?)" "p.(Arg219Ter)" ""
"0000956990" "00001847" "90" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" ""
"0000956991" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000956992" "00001847" "90" "5327" "0" "5327" "0" "c.5327C>T" "r.(?)" "p.(Pro1776Leu)" ""
"0000956993" "00001847" "70" "6729" "5" "6729" "19" "c.6729+5_6729+19del" "r.(6480_6729del)" "p.(Phe2161Cysfs*3)" ""
"0000956994" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[(5461_5714del,5461_5584del)]" "p.[(Thr1821Aspfs*6,Thr1821Valfs*13)]" ""
"0000956995" "00001847" "90" "6319" "0" "6319" "0" "c.6319C>T" "r.(?)" "p.(Arg2107Cys)" ""
"0000956996" "00001847" "90" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071CysfsTer14)" ""
"0000956997" "00001847" "90" "454" "0" "454" "0" "c.454C>T" "r.(?)" "p.(Arg152Ter)" ""
"0000956998" "00001847" "90" "4981" "0" "4981" "0" "c.4981del" "r.(?)" "p.(Leu1661Ter)" ""
"0000956999" "00001847" "90" "6449" "0" "6449" "0" "c.6449G>A" "r.(?)" "p.(Cys2150Tyr)" ""
"0000957000" "00001847" "70" "1715" "0" "1715" "0" "c.1715G>A" "r.(?)" "p.(Arg572Gln)" ""
"0000957001" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.[(2588g>c,2588_2590del)]" "p.[(Gly863Ala,Gly863del)]" ""
"0000957002" "00001847" "90" "2041" "0" "2041" "0" "c.2041C>T" "r.(?)" "p.(Arg681Ter)" ""
"0000957003" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.[(2588g>c,2588_2590del)]" "p.[(Gly863Ala,Gly863del)]" ""
"0000957004" "00001847" "90" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" ""
"0000957005" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[(5461_5714del,5461_5584del)]" "p.[(Thr1821Aspfs*6,Thr1821Valfs*13)]" ""
"0000957006" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" ""
"0000957007" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[(5461_5714del,5461_5584del)]" "p.[(Thr1821Aspfs*6,Thr1821Valfs*13)]" ""
"0000957008" "00001847" "90" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" ""
"0000957009" "00001847" "90" "6088" "0" "6088" "0" "c.6088C>T" "r.(?)" "p.(Arg2030Ter)" ""
"0000957010" "00001847" "90" "3393" "0" "3393" "0" "c.3393del" "r.(?)" "p.(Ile1132SerfsTer16)" ""
"0000957011" "00001847" "90" "859" "-9" "859" "-9" "c.859-9T>C" "r.[(=,859_1356del)]" "p.[(=,Phe287_Arg452del)]" ""
"0000957012" "00001847" "90" "3393" "0" "3393" "0" "c.3393del" "r.(?)" "p.(Ile1132SerfsTer16)" ""
"0000957013" "00001847" "90" "859" "-9" "859" "-9" "c.859-9T>C" "r.[(=,859_1356del)]" "p.[(=,Phe287_Arg452del)]" ""
"0000957014" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000957015" "00001847" "90" "6449" "0" "6449" "0" "c.6449G>A" "r.(?)" "p.(Cys2150Tyr)" ""
"0000957016" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000957017" "00001847" "50" "4685" "0" "4685" "0" "c.4685T>C" "r.(?)" "p.(Ile1562Thr)" ""
"0000957018" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[(5461_5714del,5461_5584del)]" "p.[(Thr1821Aspfs*6,Thr1821Valfs*13)]" ""
"0000957019" "00001847" "50" "4539" "2066" "4539" "2066" "c.4539+2066C>T" "r.(?)" "p.(?)" ""
"0000957020" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000957021" "00001847" "90" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" ""
"0000957022" "00001847" "90" "6119" "0" "6119" "0" "c.6119G>A" "r.(?)" "p.(Arg2040Gln)" ""
"0000957023" "00001847" "90" "6119" "0" "6119" "0" "c.6119G>A" "r.(?)" "p.(Arg2040Gln)" ""
"0000957024" "00001847" "50" "4253" "43" "4253" "43" "c.4253+43G>A" "r.[(=,4129_4253del)]" "p.[(=,Ile1377Hisfs*3)]" ""
"0000957025" "00001847" "90" "4234" "0" "4234" "0" "c.4234C>T" "r.(?)" "p.(Gln1412Ter)" ""
"0000957026" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000957027" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000957028" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" ""
"0000957029" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000957030" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000957031" "00001847" "50" "885" "0" "885" "0" "c.885del" "r.(?)" "p.(Leu296CysfsTer4)" ""
"0000957032" "00001847" "90" "4519" "0" "4519" "0" "c.4519G>A" "r.(?)" "p.(Gly1507Arg)" ""
"0000957033" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000957034" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000957035" "00001847" "70" "6729" "5" "6729" "19" "c.6729+5_6729+19del" "r.(6480_6729del)" "p.(Phe2161Cysfs*3)" ""
"0000957036" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[(=,5585_5714del)]" "p.[(=,Glu1863Leufs*33)]" ""
"0000957037" "00001847" "90" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" ""
"0000957038" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[(5461_5714del,5461_5584del)]" "p.[(Thr1821Aspfs*6,Thr1821Valfs*13)]" ""
"0000957039" "00001847" "50" "6438" "0" "6438" "0" "c.6438C>T" "r.(?)" "p.(Gly2146=)" ""
"0000957040" "00001847" "90" "6658" "0" "6658" "0" "c.6658C>T" "r.(?)" "p.(Gln2220Ter)" ""
"0000957041" "00001847" "90" "6445" "0" "6445" "0" "c.6445C>T" "r.(?)" "p.(Arg2149Ter)" ""
"0000957042" "00001847" "90" "5018" "5" "5018" "5" "c.5018+5G>A" "r.(4849_5018del)" "p.(Val1617Alafs*113)" ""
"0000957043" "00001847" "90" "6445" "0" "6445" "0" "c.6445C>T" "r.(?)" "p.(Arg2149Ter)" ""
"0000957044" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[(5461_5714del,5461_5584del)]" "p.[(Thr1821Aspfs*6,Thr1821Valfs*13)]" ""
"0000957045" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000957046" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000957047" "00001847" "90" "454" "0" "454" "0" "c.454C>T" "r.(?)" "p.(Arg152Ter)" ""
"0000957048" "00001847" "90" "731" "0" "731" "0" "c.731T>C" "r.(?)" "p.(Leu244Pro)" ""
"0000957049" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000957050" "00001847" "90" "4328" "0" "4328" "0" "c.4328G>A" "r.(?)" "p.(Arg1443His)" ""
"0000957051" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[(5461_5714del,5461_5584del)]" "p.[(Thr1821Aspfs*6,Thr1821Valfs*13)]" ""
"0000957052" "00001847" "90" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" ""
"0000957053" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000957054" "00001847" "90" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" ""
"0000957055" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" ""
"0000957056" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000957057" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000957058" "00001847" "90" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" ""
"0000957059" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000957060" "00001847" "90" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" ""
"0000957061" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000957062" "00001847" "50" "3840" "0" "3845" "0" "c.3840_3845del" "r.(?)" "p.(Asp1281_Ser1282del)" ""
"0000957063" "00001847" "90" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071CysfsTer14)" ""
"0000957064" "00001847" "90" "93" "0" "93" "0" "c.93G>A" "r.(?)" "p.(Trp31Ter)" ""
"0000957065" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[(5461_5714del,5461_5584del)]" "p.[(Thr1821Aspfs*6,Thr1821Valfs*13)]" ""
"0000957066" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.[(2588g>c,2588_2590del)]" "p.[(Gly863Ala,Gly863del)]" ""
"0000957067" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000957068" "00001847" "70" "4670" "0" "4670" "0" "c.4670A>G" "r.spl?" "p.(?,Tyr1557Cys)" ""
"0000957069" "00001847" "50" "6148" "0" "6148" "0" "c.6148G>C" "r.spl?" "p.(?,Val2050Leu)" ""
"0000957070" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" ""
"0000957071" "00001847" "50" "5908" "0" "5908" "0" "c.5908C>T" "r.(?)" "p.(Leu1970Phe)" ""
"0000957072" "00001847" "90" "4328" "0" "4328" "0" "c.4328G>A" "r.(?)" "p.(Arg1443His)" ""
"0000957073" "00001847" "90" "6658" "0" "6658" "0" "c.6658C>T" "r.(?)" "p.(Gln2220Ter)" ""
"0000957074" "00001847" "50" "2560" "0" "2560" "0" "c.2560G>T" "r.(?)" "p.(Ala854Ser)" ""
"0000957075" "00001847" "90" "4222" "0" "4222" "0" "c.4222T>C" "r.(?)" "p.(Trp1408Arg)" ""
"0000957076" "00001847" "90" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" ""
"0000957077" "00001847" "70" "6416" "0" "6416" "0" "c.6416G>C" "r.(?)" "p.(Arg2139Pro)" ""
"0000957078" "00001847" "50" "6352" "0" "6352" "0" "c.6352del" "r.(?)" "p.(Arg2118GlufsTer27)" ""
"0000957079" "00001847" "50" "5044" "0" "5058" "0" "c.5044_5058del" "r.(?)" "p.(Val1682_Val1686del)" ""
"0000957080" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" ""
"0000957081" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000957082" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000957083" "00001847" "90" "4773" "1" "4773" "1" "c.4773+1G>T" "r.spl" "p.?" ""
"0000957084" "00001847" "70" "4978" "0" "4978" "0" "c.4978C>T" "r.(?)" "p.(Pro1660Ser)" ""
"0000957085" "00001847" "90" "6088" "0" "6088" "0" "c.6088C>T" "r.(?)" "p.(Arg2030Ter)" ""
"0000957086" "00001847" "70" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" ""
"0000957087" "00001847" "50" "5051" "0" "5051" "0" "c.5051T>A" "r.(?)" "p.(Ile1684Asn)" ""
"0000957088" "00001847" "90" "4919" "0" "4919" "0" "c.4919G>A" "r.(?)" "p.(Arg1640Gln)" ""
"0000957089" "00001847" "50" "763" "0" "763" "0" "c.763C>T" "r.(?)" "p.(Arg255Cys)" ""
"0000957090" "00001847" "70" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" ""
"0000957091" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000957092" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[(5461_5714del,5461_5584del)]" "p.[(Thr1821Aspfs*6,Thr1821Valfs*13)]" ""
"0000957093" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000957094" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" ""
"0000957095" "00001847" "90" "6449" "0" "6449" "0" "c.6449G>A" "r.(?)" "p.(Cys2150Tyr)" ""
"0000957096" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[(=,5585_5714del)]" "p.[(=,Glu1863Leufs*33)]" ""
"0000957097" "00001847" "70" "2827" "0" "2827" "0" "c.2827C>T" "r.(?)" "p.(Arg943Trp)" ""
"0000957098" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.(768_769ins769+1_769+30)" "p.(Leu257Valfs*17)" ""
"0000957099" "00001847" "50" "3220" "0" "3220" "0" "c.3220A>G" "r.(?)" "p.(Ile1074Val)" ""
"0000957100" "00001847" "90" "6112" "0" "6112" "0" "c.6112C>T" "r.(?)" "p.(Arg2038Trp)" ""
"0000957101" "00001847" "90" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973Ter)" ""
"0000957102" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.[(2588g>c,2588_2590del)]" "p.[(Gly863Ala,Gly863del)]" ""
"0000957103" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000957104" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[(5461_5714del,5461_5584del)]" "p.[(Thr1821Aspfs*6,Thr1821Valfs*13)]" ""
"0000957105" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.[(2588g>c,2588_2590del)]" "p.[(Gly863Ala,Gly863del)]" ""
"0000957106" "00001847" "70" "6729" "5" "6729" "19" "c.6729+5_6729+19del" "r.(6480_6729del)" "p.(Phe2161Cysfs*3)" ""
"0000957107" "00001847" "70" "6286" "0" "6286" "0" "c.6286G>A" "r.(?)" "p.(Glu2096Lys)" ""
"0000957108" "00001847" "90" "6352" "0" "6352" "0" "c.6352del" "r.(?)" "p.(Arg2118GlufsTer27)" ""
"0000957109" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000957110" "00001847" "90" "6229" "0" "6229" "0" "c.6229C>T" "r.(?)" "p.(Arg2077Trp)" ""
"0000957111" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[(=,5585_5714del)]" "p.[(=,Glu1863Leufs*33)]" ""
"0000957112" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000957113" "00001847" "50" "5313" "-3" "5313" "-3" "c.5313-3C>G" "r.(5312_5313ins5312-2_5312-1)" "p.(Trp1772Aspfs*7)" ""
"0000957114" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000957115" "00001847" "70" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" ""
"0000957116" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000957117" "00001847" "50" "5908" "0" "5908" "0" "c.5908C>T" "r.(?)" "p.(Leu1970Phe)" ""
"0000957118" "00001847" "90" "6598" "0" "6598" "0" "c.6598del" "r.(?)" "p.(Glu2200ArgfsTer47)" ""
"0000957119" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[(=,5585_5714del)]" "p.[(=,Glu1863Leufs*33)]" ""
"0000957120" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000957121" "00001847" "70" "6647" "0" "6647" "0" "c.6647C>T" "r.(?)" "p.(Ala2216Val)" ""
"0000957122" "00001847" "90" "5318" "0" "5318" "0" "c.5318C>T" "r.(?)" "p.(Ala1773Val)" ""
"0000957123" "00001847" "90" "6112" "0" "6112" "0" "c.6112C>T" "r.(?)" "p.(Arg2038Trp)" ""
"0000957124" "00001847" "70" "3482" "0" "3482" "0" "c.3482G>A" "r.(?)" "p.(Arg1161His)" ""
"0000957125" "00001847" "50" "4253" "43" "4253" "43" "c.4253+43G>A" "r.[(=,4129_4253del)]" "p.[(=,Ile1377Hisfs*3)]" ""
"0000957126" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000957127" "00001847" "90" "4537" "0" "4537" "0" "c.4537dup" "r.(?)" "p.(Gln1513ProfsTer42)" ""
"0000957128" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000957129" "00001847" "50" "4663" "0" "4663" "0" "c.4663C>T" "r.(?)" "p.(Gln1555Ter)" ""
"0000957130" "00001847" "50" "6694" "0" "6694" "0" "c.6694G>A" "r.(?)" "p.(Glu2232Lys)" ""
"0000957131" "00001847" "50" "858" "1" "858" "1" "c.858+1G>T" "r.spl" "p.(?)" ""
"0000957132" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000957133" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000957134" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.[(2588g>c,2588_2590del)]" "p.[(Gly863Ala,Gly863del)]" ""
"0000957135" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" ""
"0000957136" "00001847" "50" "67" "-2023" "67" "-2023" "c.67-2023T>G" "r.[(66_67ins67-2266_67-2024,=)]" "p.[(IIe23IIefs*30,=)]" ""
"0000957137" "00001847" "90" "6449" "0" "6449" "0" "c.6449G>A" "r.(?)" "p.(Cys2150Tyr)" ""
"0000957138" "00001847" "90" "6449" "0" "6449" "0" "c.6449G>A" "r.(?)" "p.(Cys2150Tyr)" ""
"0000957139" "00001847" "70" "6479" "1" "6479" "1" "c.6479+1G>A" "r.spl" "p.?" ""
"0000957140" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000957141" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000957142" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000957143" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000957144" "00001847" "90" "5196" "1" "5196" "1" "c.5196+1G>A" "r.spl" "p.?" ""
"0000957145" "00001847" "90" "5933" "0" "5943" "0" "c.5933_5943dup" "r.(?)" "p.(Phe1982LysfsTer14)" ""
"0000957146" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.[(2588g>c,2588_2590del)]" "p.[(Gly863Ala,Gly863del)]" ""
"0000957147" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000957148" "00001847" "70" "4326" "0" "4326" "0" "c.4326C>A" "r.(?)" "p.(Asn1442Lys)" ""
"0000957149" "00001847" "70" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" ""
"0000957150" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000957151" "00001847" "90" "4539" "2028" "4539" "2028" "c.4539+2028C>T" "r.[(=,4539_4540ins4539+1891_4540-2162)]" "p.[(=,Arg1514Leufs*36)]" ""
"0000957152" "00001847" "90" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" ""
"0000957153" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" ""
"0000957154" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000957155" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000957156" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[(5461_5714del,5461_5584del)]" "p.[(Thr1821Aspfs*6,Thr1821Valfs*13)]" ""
"0000957157" "00001847" "70" "5516" "0" "5516" "0" "c.5516T>C" "r.(?)" "p.(Phe1839Ser)" ""
"0000957158" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000957159" "00001847" "70" "2897" "0" "2897" "0" "c.2897G>A" "r.(?)" "p.(Gly966Glu)" ""
"0000957160" "00001847" "90" "6317" "0" "6317" "0" "c.6317G>A" "r.(?)" "p.(Arg2106His)" ""
"0000957161" "00001847" "70" "3064" "0" "3064" "0" "c.3064G>A" "r.(?)" "p.(Glu1022Lys)" ""
"0000957162" "00001847" "50" "6694" "0" "6694" "0" "c.6694G>A" "r.(?)" "p.(Glu2232Lys)" ""
"0000957163" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000957164" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000957165" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000957166" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000957167" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000957168" "00001847" "50" "5905" "0" "5905" "0" "c.5905G>A" "r.(?)" "p.(Gly1969Ser)" ""
"0000957169" "00001847" "90" "2966" "0" "2966" "0" "c.2966T>C" "r.(?)" "p.(Val989Ala)" ""
"0000957170" "00001847" "90" "4234" "0" "4234" "0" "c.4234C>T" "r.(?)" "p.(Gln1412Ter)" ""
"0000957171" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000957172" "00001847" "90" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" ""
"0000957173" "00001847" "50" "6305" "0" "6305" "0" "c.6305A>G" "r.(?)" "p.(Asp2102Gly)" ""
"0000957174" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000957175" "00001847" "50" "3821" "0" "3821" "0" "c.3821T>C" "r.(?)" "p.(Leu1274Pro)" ""
"0000957176" "00001847" "50" "5519" "0" "5519" "0" "c.5519G>T" "r.(?)" "p.(Cys1840Phe)" ""
"0000957177" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000957178" "00001847" "90" "5316" "0" "5316" "0" "c.5316G>A" "r.(?)" "p.(Trp1772Ter)" ""
"0000957179" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000957180" "00001847" "50" "3814" "-3" "3814" "-3" "c.3814-3C>A" "r.spl?" "p.(?)" ""
"0000957181" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.[(2588g>c,2588_2590del)]" "p.[(Gly863Ala,Gly863del)]" ""
"0000957182" "00001847" "90" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" ""
"0000957183" "00001847" "90" "4793" "0" "4793" "0" "c.4793C>A" "r.(?)" "p.(Ala1598Asp)" ""
"0000957184" "00001847" "90" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973Ter)" ""
"0000957185" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000957186" "00001847" "90" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.[(=,5196_5197ins5196+1140_5196+1212)]" "p.[(=,Met1733Glufs*78)]" ""
"0000957187" "00001847" "90" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" ""
"0000957188" "00001847" "90" "3259" "0" "3259" "0" "c.3259G>A" "r.(?)" "p.(Glu1087Lys)" ""
"0000957189" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000957190" "00001847" "50" "4253" "43" "4253" "43" "c.4253+43G>A" "r.[(=,4129_4253del)]" "p.[(=,Ile1377Hisfs*3)]" ""
"0000957191" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000957192" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000957193" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000957194" "00001847" "90" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" ""
"0000957195" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000957196" "00001847" "90" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" ""
"0000957197" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" ""
"0000957198" "00001847" "90" "4253" "5" "4253" "5" "c.4253+5G>T" "r.[(4129_4253del,=)]" "p.[(Ile1377Hisfs*3,=)]" ""
"0000957199" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000957200" "00001847" "90" "331" "0" "332" "0" "c.331_332del" "r.(?)" "p.(Glu111ThrfsTer49)" ""
"0000957201" "00001847" "70" "4849" "0" "4849" "0" "c.4849G>A" "r.[(4849_5018del,4849_5109del,=)]" "p.[(Val1617Alafs*113,Val1617Met,=)]" ""
"0000957202" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.[(2588g>c,2588_2590del)]" "p.[(Gly863Ala,Gly863del)]" ""
"0000957203" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000957204" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000957205" "00001847" "50" "4685" "0" "4685" "0" "c.4685T>C" "r.(?)" "p.(Ile1562Thr)" ""
"0000957206" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000957207" "00001847" "90" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" ""
"0000957208" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000957209" "00001847" "90" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" ""
"0000957210" "00001847" "90" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" ""
"0000957211" "00001847" "90" "6658" "0" "6658" "0" "c.6658C>T" "r.(?)" "p.(Gln2220Ter)" ""
"0000957212" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000957213" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[(=,5585_5714del)]" "p.[(=,Glu1863Leufs*33)]" ""
"0000957214" "00001847" "90" "6658" "0" "6658" "0" "c.6658C>T" "r.(?)" "p.(Gln2220Ter)" ""
"0000957215" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[(5461_5714del,5461_5584del)]" "p.[(Thr1821Aspfs*6,Thr1821Valfs*13)]" ""
"0000957216" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000957217" "00001847" "90" "6088" "0" "6088" "0" "c.6088C>T" "r.(?)" "p.(Arg2030Ter)" ""
"0000957218" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000957219" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[(=,5585_5714del)]" "p.[(=,Glu1863Leufs*33)]" ""
"0000957220" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" ""
"0000957221" "00001847" "90" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" ""
"0000957222" "00001847" "90" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" ""
"0000957223" "00001847" "50" "5281" "0" "5289" "0" "c.5281_5289del" "r.(?)" "p.(Pro1761_Leu1763del)" ""
"0000957224" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" ""
"0000957225" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[(5461_5714del,5461_5584del)]" "p.[(Thr1821Aspfs*6,Thr1821Valfs*13)]" ""
"0000957226" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.(768_769ins769+1_769+30)" "p.(Leu257Valfs*17)" ""
"0000957227" "00001847" "90" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" ""
"0000957228" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" ""
"0000957229" "00001847" "90" "859" "-9" "859" "-9" "c.859-9T>C" "r.[(=,859_1356del)]" "p.[(=,Phe287_Arg452del)]" ""
"0000957230" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000957231" "00001847" "90" "4537" "0" "4537" "0" "c.4537dup" "r.(?)" "p.(Gln1513ProfsTer42)" ""
"0000957232" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" ""
"0000957233" "00001847" "50" "191" "0" "191" "0" "c.191C>T" "r.(?)" "p.(Ala64Val)" ""
"0000957234" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.[(2588g>c,2588_2590del)]" "p.[(Gly863Ala,Gly863del)]" ""
"0000957235" "00001847" "70" "6209" "0" "6209" "0" "c.6209C>G" "r.(?)" "p.(Thr2070Arg)" ""
"0000957236" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000957237" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[(5461_5714del,5461_5584del)]" "p.[(Thr1821Aspfs*6,Thr1821Valfs*13)]" ""
"0000957238" "00001847" "70" "2609" "0" "2609" "0" "c.2609C>T" "r.(?)" "p.(Pro870Leu)" ""
"0000957239" "00001847" "90" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" ""
"0000957240" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000957241" "00001847" "50" "4529" "0" "4529" "0" "c.4529C>T" "r.(?)" "p.(Pro1510Leu)" ""
"0000957242" "00001847" "50" "6040" "0" "6040" "0" "c.6040A>G" "r.(?)" "p.(Met2014Val)" ""
"0000957243" "00001847" "50" "3004" "0" "3004" "0" "c.3004C>T" "r.(?)" "p.(Arg1002Trp)" ""
"0000957244" "00001847" "50" "5056" "0" "5056" "0" "c.5056G>A" "r.(?)" "p.(Val1686Met)" ""
"0000957245" "00001847" "90" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973Ter)" ""
"0000957246" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[(5461_5714del,5461_5584del)]" "p.[(Thr1821Aspfs*6,Thr1821Valfs*13)]" ""
"0000957247" "00001847" "90" "4773" "3" "4773" "3" "c.4773+3A>G" "r.[(4668_4773del,=)]" "p.[(Tyr1557Alafs*18,=)]" ""
"0000957248" "00001847" "50" "656" "0" "656" "0" "c.656G>C" "r.(?)" "p.(Arg219Thr)" ""
"0000957249" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" ""
"0000957250" "00001847" "90" "629" "0" "629" "0" "c.629del" "r.(?)" "p.(Leu210ArgfsTer31)" ""
"0000957251" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[(5461_5714del,5461_5584del)]" "p.[(Thr1821Aspfs*6,Thr1821Valfs*13)]" ""
"0000957252" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000957253" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" ""
"0000957254" "00001847" "90" "71" "0" "71" "0" "c.71G>A" "r.(?)" "p.(Arg24His)" ""
"0000957255" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[(5461_5714del,5461_5584del)]" "p.[(Thr1821Aspfs*6,Thr1821Valfs*13)]" ""
"0000957256" "00001847" "50" "5908" "0" "5908" "0" "c.5908C>T" "r.(?)" "p.(Leu1970Phe)" ""
"0000957257" "00001847" "50" "6242" "0" "6242" "0" "c.6242C>T" "r.(?)" "p.(Thr2081Ile)" ""
"0000957258" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000957259" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000957260" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000957261" "00001847" "90" "4537" "0" "4537" "0" "c.4537del" "r.(?)" "p.(Gln1513ArgfsTer13)" ""
"0000957262" "00001847" "50" "4685" "0" "4685" "0" "c.4685T>C" "r.(?)" "p.(Ile1562Thr)" ""
"0000957263" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[(5461_5714del,5461_5584del)]" "p.[(Thr1821Aspfs*6,Thr1821Valfs*13)]" ""
"0000957264" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000957265" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000957266" "00001847" "90" "834" "0" "834" "0" "c.834del" "r.(?)" "p.(Asp279IlefsTer21)" ""
"0000957267" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000957268" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000957269" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000957270" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000957271" "00001847" "90" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" ""
"0000957272" "00001847" "90" "5761" "0" "5761" "0" "c.5761G>A" "r.(?)" "p.(Val1921Met)" ""
"0000957273" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000957274" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000957275" "00001847" "70" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" ""
"0000957276" "00001847" "90" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" ""
"0000957277" "00001847" "90" "42" "0" "48" "0" "c.42_48delinsAG" "r.(?)" "p.(Asn14LysfsTer38)" ""
"0000957278" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000957279" "00001847" "90" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" ""
"0000957280" "00001847" "90" "2971" "0" "2971" "0" "c.2971G>C" "r.(?)" "p.(Gly991Arg)" ""
"0000957281" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000957282" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000957283" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000957284" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" ""
"0000957285" "00001847" "90" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071CysfsTer14)" ""
"0000957286" "00001847" "50" "5077" "0" "5077" "0" "c.5077G>A" "r.(?)" "p.(Val1693Ile)" ""
"0000957287" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000957288" "00001847" "50" "690" "0" "690" "0" "c.690C>G" "r.(?)" "p.(Cys230Trp)" ""
"0000957289" "00001847" "50" "1964" "0" "1964" "0" "c.1964T>G" "r.(?)" "p.(Phe655Cys)" ""
"0000957290" "00001847" "90" "2023" "0" "2023" "0" "c.2023G>A" "r.(?)" "p.(Val675Ile)" ""
"0000957291" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000957292" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000957293" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000957294" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000957295" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000957296" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000957297" "00001847" "90" "6658" "0" "6658" "0" "c.6658C>T" "r.(?)" "p.(Gln2220Ter)" ""
"0000957298" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000957299" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[(=,5585_5714del)]" "p.[(=,Glu1863Leufs*33)]" ""
"0000957300" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000957301" "00001847" "70" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000957302" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000957303" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" ""
"0000957304" "00001847" "90" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" ""
"0000957305" "00001847" "90" "5018" "5" "5018" "5" "c.5018+5G>A" "r.(4849_5018del)" "p.(Val1617Alafs*113)" ""
"0000957306" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000957307" "00001847" "90" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" ""
"0000957308" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000957309" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[(=,5585_5714del)]" "p.[(=,Glu1863Leufs*33)]" ""
"0000958029" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.(Gly863Ala)" ""
"0000958109" "00001847" "90" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.spl" "p.?" ""
"0000958110" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" ""
"0000958111" "00001847" "90" "4457" "0" "4457" "0" "c.4457C>T" "r.(?)" "p.(Pro1486Leu)" ""
"0000958116" "00001847" "90" "4234" "0" "4234" "0" "c.4234C>T" "r.(?)" "p.(Gln1412Ter)" ""
"0000958119" "00001847" "90" "1988" "0" "1988" "0" "c.1988G>A" "r.(?)" "p.(Trp663Ter)" ""
"0000958139" "00001847" "90" "4462" "0" "4462" "0" "c.4462T>C" "r.(?)" "p.(Cys1488Arg)" ""
"0000958146" "00001847" "90" "4540" "-2" "4540" "-2" "c.4540-2A>G" "r.spl" "p.?" ""
"0000958147" "00001847" "90" "4540" "-2" "4540" "-2" "c.4540-2A>G" "r.spl" "p.?" ""
"0000958148" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" ""
"0000958152" "00001847" "90" "1086" "0" "1086" "0" "c.1086T>A" "r.(?)" "p.(Tyr362Ter)" ""
"0000958154" "00001847" "90" "4849" "-2" "4849" "-2" "c.4849-2A>G" "r.spl" "p.?" ""
"0000958155" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" ""
"0000958157" "00001847" "90" "454" "0" "454" "0" "c.454C>T" "r.(?)" "p.(Arg152Ter)" ""
"0000958159" "00001847" "90" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973Ter)" ""
"0000958160" "00001847" "70" "6729" "5" "6729" "19" "c.6729+5_6729+19del" "r.?" "p.?" ""
"0000958163" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" ""
"0000958168" "00001847" "90" "214" "0" "214" "0" "c.214G>A" "r.(?)" "p.(Gly72Arg)" ""
"0000958170" "00001847" "90" "2948" "0" "2948" "0" "c.2948C>T" "r.(?)" "p.(Thr983Ile)" ""
"0000958171" "00001847" "90" "2041" "0" "2041" "0" "c.2041C>T" "r.(?)" "p.(Arg681Ter)" ""
"0000958174" "00001847" "90" "4254" "-1" "4254" "-1" "c.4254-1G>C" "r.spl" "p.?" ""
"0000958175" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" ""
"0000958176" "00001847" "90" "4457" "0" "4457" "0" "c.4457C>T" "r.(?)" "p.(Pro1486Leu)" ""
"0000958177" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" ""
"0000958179" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" ""
"0000958180" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.(Gly863Ala)" ""
"0000958181" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" ""
"0000958185" "00001847" "90" "67" "-2" "67" "-2" "c.67-2A>G" "r.spl" "p.?" ""
"0000958201" "00001847" "90" "1239" "1" "1239" "1" "c.1239+1G>C" "r.spl" "p.?" ""
"0000958215" "00001847" "90" "2829" "0" "2829" "0" "c.2829del" "r.(?)" "p.(Pro944GlnfsTer6)" ""
"0000958216" "00001847" "90" "1937" "1" "1937" "1" "c.1937+1G>A" "r.spl" "p.?" ""
"0000958217" "00001847" "90" "3287" "0" "3287" "0" "c.3287C>T" "r.(?)" "p.(Ser1096Leu)" ""
"0000958218" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.?" ""
"0000958223" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000958226" "00001847" "90" "1957" "0" "1957" "0" "c.1957C>T" "r.(?)" "p.(Arg653Cys)" ""
"0000958228" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" ""
"0000958231" "00001847" "90" "45" "0" "45" "0" "c.45G>A" "r.(?)" "p.(Trp15Ter)" ""
"0000958236" "00001847" "90" "4537" "0" "4537" "0" "c.4537dup" "r.(?)" "p.(Gln1513ProfsTer42)" ""
"0000958246" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" ""
"0000958248" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000958254" "00001847" "70" "1532" "0" "1532" "0" "c.1532G>A" "r.(?)" "p.(Arg511His)" ""
"0000958344" "00001847" "90" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" ""
"0000958348" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" ""
"0000958357" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.(Gly863Ala)" ""
"0000958367" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000958398" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000958400" "00001847" "50" "514" "0" "514" "0" "c.514G>A" "r.(?)" "p.(Gly172Ser)" ""
"0000958401" "00001847" "50" "676" "0" "676" "0" "c.676C>A" "r.(?)" "p.(Arg226Ser)" ""
"0000958402" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000958415" "00001847" "50" "1928" "0" "1928" "0" "c.1928T>G" "r.(?)" "p.(Val643Gly)" ""
"0000958420" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.(Gly863Ala)" ""
"0000958427" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000958479" "00001847" "70" "5311" "0" "5311" "0" "c.5311G>A" "r.(?)" "p.(Gly1771Arg)" ""
"0000958480" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000958481" "00001847" "70" "4237" "0" "4237" "0" "c.4237C>A" "r.(?)" "p.(Gln1413Lys)" ""
"0000958482" "00001847" "90" "5175" "0" "5175" "0" "c.5175dup" "r.(?)" "p.(Thr1726AspfsTer61)" ""
"0000958483" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000958487" "00001847" "70" "4253" "43" "4253" "43" "c.4253+43G>A" "r.spl" "p.?" ""
"0000958488" "00001847" "90" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" ""
"0000958492" "00001847" "90" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973Ter)" ""
"0000958495" "00001847" "90" "6229" "0" "6229" "0" "c.6229C>T" "r.(?)" "p.(Arg2077Trp)" ""
"0000958496" "00001847" "90" "6229" "0" "6229" "0" "c.6229C>T" "r.(?)" "p.(Arg2077Trp)" ""
"0000958497" "00001847" "90" "5196" "1" "5196" "1" "c.5196+1G>A" "r.spl" "p.?" ""
"0000958499" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000958500" "00001847" "90" "3364" "0" "3364" "0" "c.3364G>A" "r.(?)" "p.(Glu1122Lys)" ""
"0000958501" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000958503" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000958504" "00001847" "90" "6088" "0" "6088" "0" "c.6088C>T" "r.(?)" "p.(Arg2030Ter)" ""
"0000958508" "00001847" "90" "4926" "0" "4926" "0" "c.4926C>G" "r.(?)" "p.(Ser1642Arg)" ""
"0000958509" "00001847" "90" "5044" "0" "5058" "0" "c.5044_5058del" "r.(?)" "p.(Val1682_Val1686del)" ""
"0000958510" "00001847" "90" "6449" "0" "6449" "0" "c.6449G>A" "r.(?)" "p.(Cys2150Tyr)" ""
"0000958512" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000958513" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000958514" "00001847" "90" "6229" "0" "6229" "0" "c.6229C>T" "r.(?)" "p.(Arg2077Trp)" ""
"0000958517" "00001847" "90" "6229" "0" "6229" "0" "c.6229C>T" "r.(?)" "p.(Arg2077Trp)" ""
"0000958518" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000958519" "00001847" "90" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" ""
"0000958520" "00001847" "90" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973Ter)" ""
"0000958521" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000958522" "00001847" "90" "4234" "0" "4234" "0" "c.4234C>T" "r.(?)" "p.(Gln1412Ter)" ""
"0000958524" "00001847" "50" "5659" "0" "5659" "0" "c.5659G>A" "r.(?)" "p.(Val1887Met)" ""
"0000958525" "00001847" "50" "667" "0" "667" "0" "c.667A>C" "r.(?)" "p.(Lys223Gln)" ""
"0000958526" "00001847" "50" "769" "-784" "769" "-784" "c.769-784C>T" "r.spl?" "p.?" ""
"0000958527" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000958529" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.?" ""
"0000958530" "00001847" "70" "2918" "775" "3328" "640" "c.2918+775_3328+640del" "r.?" "p.?" ""
"0000958533" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.(?,Val256=)" ""
"0000958534" "00001847" "50" "769" "-784" "769" "-784" "c.769-784C>T" "r.spl?" "p.?" ""
"0000958548" "00001847" "90" "985" "0" "985" "0" "c.985G>T" "r.(?)" "p.(Gly329Ter)" ""
"0000958555" "00001847" "70" "5351" "0" "5351" "0" "c.5351T>G" "r.(?)" "p.(Leu1784Arg)" ""
"0000958556" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000958558" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000958559" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000958561" "00001847" "70" "6426" "0" "6428" "0" "c.6426_6428del" "r.(?)" "p.(Ile2142del)" ""
"0000958562" "00001847" "50" "3758" "0" "3758" "0" "c.3758C>T" "r.(?)" "p.(Thr1253Met)" ""
"0000958563" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000958564" "00001847" "50" "1267" "0" "1268" "0" "c.1267_1268inv" "r.(?)" "p.(His423Cys)" ""
"0000958565" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.?" ""
"0000958566" "00001847" "70" "4253" "43" "4253" "43" "c.4253+43G>A" "r.spl" "p.?" ""
"0000958567" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000958568" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000958571" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000958574" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000958578" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000958579" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000958580" "00001847" "90" "6088" "0" "6088" "0" "c.6088C>T" "r.(?)" "p.(Arg2030Ter)" ""
"0000958581" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.(Gly863Ala)" ""
"0000958582" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000958584" "00001847" "50" "769" "-784" "769" "-784" "c.769-784C>T" "r.spl?" "p.?" ""
"0000958630" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.?" ""
"0000958631" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000958634" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000958635" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.?" ""
"0000958636" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000958640" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000958654" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.?" ""
"0000958655" "00001847" "50" "2105" "0" "2105" "0" "c.2105T>C" "r.(?)" "p.(Leu702Pro)" ""
"0000958671" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.?" ""
"0000958675" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.?" ""
"0000958676" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" ""
"0000958678" "00001847" "90" "296" "0" "296" "0" "c.296dup" "r.(?)" "p.(Asn99LysfsTer62)" ""
"0000958679" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" ""
"0000958680" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.(Gly863Ala)" ""
"0000958681" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.(Gly863Ala)" ""
"0000958682" "00001847" "70" "6454" "0" "6454" "0" "c.6454G>T" "r.(?)" "p.(Gly2152Cys)" ""
"0000958683" "00001847" "90" "5512" "0" "5512" "0" "c.5512C>G" "r.(?)" "p.(His1838Asp)" ""
"0000958684" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" ""
"0000958685" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" ""
"0000958686" "00001847" "70" "4253" "43" "4253" "43" "c.4253+43G>A" "r.spl" "p.?" ""
"0000958688" "00001847" "90" "1822" "0" "1822" "0" "c.1822T>A" "r.(?)" "p.(Phe608Ile)" ""
"0000958689" "00001847" "90" "4462" "0" "4462" "0" "c.4462T>C" "r.(?)" "p.(Cys1488Arg)" ""
"0000958690" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000958691" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000958692" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" ""
"0000958693" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.(Gly863Ala)" ""
"0000958694" "00001847" "90" "3261" "0" "3261" "0" "c.3261A>C" "r.(?)" "p.(Glu1087Asp)" ""
"0000958695" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.?" ""
"0000958696" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.?" ""
"0000958697" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.?" ""
"0000958698" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.(?,Val256=)" ""
"0000958699" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" ""
"0000958701" "00001847" "90" "5018" "2" "5018" "2" "c.5018+2T>C" "r.spl" "p.?" ""
"0000958702" "00001847" "90" "1957" "0" "1957" "0" "c.1957C>T" "r.(?)" "p.(Arg653Cys)" ""
"0000958703" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" ""
"0000958704" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" ""
"0000958705" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000958706" "00001847" "90" "2041" "0" "2041" "0" "c.2041C>T" "r.(?)" "p.(Arg681Ter)" ""
"0000958707" "00001847" "90" "1648" "0" "1648" "0" "c.1648G>A" "r.(?)" "p.(Gly550Arg)" ""
"0000958708" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000958709" "00001847" "90" "5642" "0" "5642" "0" "c.5642C>T" "r.(?)" "p.(Ala1881Val)" ""
"0000958710" "00001847" "90" "1834" "0" "1834" "0" "c.1834C>T" "r.(?)" "p.(Gln612Ter)" ""
"0000958711" "00001847" "90" "4786" "0" "4786" "0" "c.4786dup" "r.(?)" "p.(Arg1596LysfsTer5)" ""
"0000958712" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000958713" "00001847" "90" "571" "-1" "571" "-1" "c.571-1G>T" "r.spl" "p.?" ""
"0000958714" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" ""
"0000958715" "00001847" "90" "1253" "0" "1253" "0" "c.1253T>C" "r.(?)" "p.(Phe418Ser)" ""
"0000958716" "00001847" "90" "2829" "0" "2829" "0" "c.2829del" "r.(?)" "p.(Pro944GlnfsTer6)" ""
"0000958717" "00001847" "90" "3413" "0" "3413" "0" "c.3413T>A" "r.(?)" "p.(Leu1138His)" ""
"0000958718" "00001847" "90" "3856" "0" "3859" "0" "c.3856_3859del" "r.(?)" "p.(Phe1286ArgfsTer102)" ""
"0000958719" "00001847" "70" "4253" "43" "4253" "43" "c.4253+43G>A" "r.spl" "p.?" ""
"0000958720" "00001847" "90" "5196" "1" "5196" "1" "c.5196+1G>A" "r.spl" "p.?" ""
"0000958721" "00001847" "90" "52" "0" "52" "0" "c.52C>T" "r.(?)" "p.(Arg18Trp)" ""
"0000958722" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.(Gly863Ala)" ""
"0000958723" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000958724" "00001847" "90" "122" "0" "122" "0" "c.122G>A" "r.(?)" "p.(Trp41Ter)" ""
"0000958725" "00001847" "90" "5318" "0" "5318" "0" "c.5318C>T" "r.(?)" "p.(Ala1773Val)" ""
"0000958726" "00001847" "90" "3051" "-1" "3051" "-1" "c.3051-1G>C" "r.spl" "p.?" ""
"0000958727" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000958728" "00001847" "90" "1442" "0" "1442" "0" "c.1442del" "r.(?)" "p.(Phe481SerfsTer87)" ""
"0000958729" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" ""
"0000958730" "00001847" "90" "5018" "2" "5018" "2" "c.5018+2T>C" "r.spl" "p.?" ""
"0000958731" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.(Gly863Ala)" ""
"0000958732" "00001847" "90" "4234" "0" "4234" "0" "c.4234C>T" "r.(?)" "p.(Gln1412Ter)" ""
"0000958734" "00001847" "90" "1253" "0" "1253" "0" "c.1253T>C" "r.(?)" "p.(Phe418Ser)" ""
"0000958735" "00001847" "90" "5018" "2" "5018" "2" "c.5018+2T>C" "r.spl" "p.?" ""
"0000958736" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000958737" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.?" ""
"0000958738" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" ""
"0000958740" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" ""
"0000958741" "00001847" "70" "5413" "0" "5413" "0" "c.5413A>G" "r.(?)" "p.(Asn1805Asp)" ""
"0000958742" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" ""
"0000958743" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" ""
"0000958881" "00001847" "50" "1928" "0" "1928" "0" "c.1928T>G" "r.(?)" "p.(Val643Gly)" ""
"0000958905" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000958915" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000958970" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.(?,Val256=)" ""
"0000958971" "00001847" "90" "3522" "1" "3522" "1" "c.3522+1G>A" "r.spl" "p.?" ""
"0000958972" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000958973" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.?" ""
"0000958974" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" ""
"0000958975" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000958976" "00001847" "90" "4849" "-2" "4849" "-2" "c.4849-2A>G" "r.spl" "p.?" ""
"0000958979" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000958994" "00001847" "50" "1928" "0" "1928" "0" "c.1928T>G" "r.(?)" "p.(Val643Gly)" ""
"0000958996" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000958999" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000959004" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000959009" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" ""
"0000959011" "00001847" "70" "4610" "0" "4610" "0" "c.4610C>T" "r.(?)" "p.(Thr1537Met)" ""
"0000959013" "00001847" "90" "6386" "1" "6386" "1" "c.6386+1G>A" "r.spl" "p.?" ""
"0000959014" "00001847" "90" "1964" "0" "1964" "0" "c.1964T>G" "r.(?)" "p.(Phe655Cys)" ""
"0000959016" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.?" ""
"0000959018" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.(Gly863Ala)" ""
"0000959020" "00001847" "50" "1928" "0" "1928" "0" "c.1928T>G" "r.(?)" "p.(Val643Gly)" ""
"0000959034" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.(Gly863Ala)" ""
"0000959039" "00001847" "50" "2690" "0" "2690" "0" "c.2690C>T" "r.(?)" "p.(Thr897Ile)" ""
"0000959044" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000959048" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.(Gly863Ala)" ""
"0000959052" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" ""
"0000959065" "00001847" "90" "4919" "0" "4919" "0" "c.4919G>A" "r.(?)" "p.(Arg1640Gln)" ""
"0000959077" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000959078" "00001847" "50" "769" "-784" "769" "-784" "c.769-784C>T" "r.spl?" "p.?" ""
"0000959086" "00001847" "70" "5923" "0" "5923" "0" "c.5923G>C" "r.(?)" "p.(Gly1975Arg)" ""
"0000959087" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000959088" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000959090" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000959091" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.?" ""
"0000959092" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000959093" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000959094" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.?" ""
"0000959095" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000959096" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000959097" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000959098" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000959099" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000959100" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000959101" "00001847" "50" "2036" "0" "2036" "0" "c.2036A>T" "r.(?)" "p.(Glu679Val)" ""
"0000959105" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000959106" "00001847" "70" "4253" "43" "4253" "43" "c.4253+43G>A" "r.spl" "p.?" ""
"0000959107" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000959109" "00001847" "90" "6112" "0" "6112" "0" "c.6112C>T" "r.(?)" "p.(Arg2038Trp)" ""
"0000959110" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" ""
"0000959111" "00001847" "90" "6609" "0" "6609" "0" "c.6609C>A" "r.(?)" "p.(Tyr2203Ter)" ""
"0000959112" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000959113" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000959114" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000959115" "00001847" "90" "6386" "2" "6386" "2" "c.6386+2C>G" "r.spl" "p.?" ""
"0000959116" "00001847" "50" "656" "0" "656" "0" "c.656G>C" "r.(?)" "p.(Arg219Thr)" ""
"0000959117" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000959119" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000959120" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000959121" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000959122" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000959123" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000959124" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" ""
"0000959126" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000959127" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000959128" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000959129" "00001847" "70" "4253" "43" "4253" "43" "c.4253+43G>A" "r.spl" "p.?" ""
"0000959130" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000959131" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000959132" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000959133" "00001847" "90" "1891" "0" "1891" "0" "c.1891G>A" "r.(?)" "p.(Gly631Arg)" ""
"0000959134" "00001847" "70" "4253" "43" "4253" "43" "c.4253+43G>A" "r.spl" "p.?" ""
"0000959135" "00001847" "70" "0" "0" "0" "0" "c.?" "r.?" "p.?" ""
"0000959136" "00001847" "90" "6215" "0" "6215" "0" "c.6215G>A" "r.(?)" "p.(Ser2072Asn)" ""
"0000959137" "00001847" "90" "868" "0" "868" "0" "c.868C>T" "r.(?)" "p.(Arg290Trp)" ""
"0000959138" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000959139" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000959140" "00001847" "90" "5942" "0" "5942" "0" "c.5942C>G" "r.(?)" "p.(Thr1981Arg)" ""
"0000959141" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" ""
"0000959145" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000959146" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000959147" "00001847" "90" "2626" "0" "2626" "0" "c.2626C>T" "r.(?)" "p.(Gln876Ter)" ""
"0000959149" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.?" ""
"0000959150" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000959151" "00001847" "70" "6098" "0" "6098" "0" "c.6098T>C" "r.(?)" "p.(Leu2033Pro)" ""
"0000959152" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000959155" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000959156" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000959157" "00001847" "90" "5929" "0" "5929" "0" "c.5929G>A" "r.(?)" "p.(Gly1977Ser)" ""
"0000959158" "00001847" "70" "1817" "0" "1817" "0" "c.1817G>A" "r.(?)" "p.(Gly606Asp)" ""
"0000959160" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.(Gly863Ala)" ""
"0000959161" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000959162" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000959164" "00001847" "90" "4978" "0" "4978" "0" "c.4978C>T" "r.(?)" "p.(Pro1660Ser)" ""
"0000959165" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.?" ""
"0000959166" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000959167" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000959169" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000959171" "00001847" "90" "4234" "0" "4234" "0" "c.4234C>T" "r.(?)" "p.(Gln1412Ter)" ""
"0000959172" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000959174" "00001847" "70" "4253" "43" "4253" "43" "c.4253+43G>A" "r.spl" "p.?" ""
"0000959175" "00001847" "70" "181" "0" "181" "0" "c.181A>G" "r.(?)" "p.(Met61Val)" ""
"0000959176" "00001847" "70" "3703" "0" "3703" "0" "c.3703A>G" "r.(?)" "p.(Asn1235Asp)" ""
"0000959177" "00001847" "90" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.spl" "p.?" ""
"0000959178" "00001847" "70" "5578" "0" "5578" "0" "c.5578C>T" "r.(?)" "p.(Arg1860Trp)" ""
"0000959179" "00001847" "70" "0" "0" "0" "0" "c.?" "r.?" "p.?" ""
"0000959182" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000959185" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000959186" "00001847" "70" "2401" "0" "2401" "0" "c.2401G>A" "r.(?)" "p.(Ala801Thr)" ""
"0000959187" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000959188" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000959189" "00001847" "50" "3758" "0" "3758" "0" "c.3758C>T" "r.(?)" "p.(Thr1253Met)" ""
"0000959190" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000959191" "00001847" "50" "5691" "0" "5691" "0" "c.5691G>T" "r.(?)" "p.(Gln1897His)" ""
"0000959192" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000959193" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000959194" "00001847" "90" "5313" "-2" "5313" "-2" "c.5313-2A>G" "r.spl" "p.?" ""
"0000959304" "00001847" "90" "6077" "0" "6077" "0" "c.6077T>C" "r.(?)" "p.(Leu2026Pro)" ""
"0000959320" "00001847" "90" "4773" "3" "4773" "3" "c.4773+3A>G" "r.spl?" "p.?" ""
"0000959321" "00001847" "50" "4966" "0" "4966" "0" "c.4966G>T" "r.(?)" "p.(Val1656Phe)" ""
"0000959340" "00001847" "90" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" ""
"0000959341" "00001847" "50" "2701" "0" "2701" "0" "c.2701A>G" "r.(?)" "p.(Thr901Ala)" ""
"0000959353" "00001847" "50" "2576" "0" "2576" "0" "c.2576A>G" "r.(?)" "p.(Gln859Arg)" ""
"0000959382" "00001847" "50" "4771" "0" "4771" "0" "c.4771G>A" "r.(?)" "p.(Gly1591Arg)" ""
"0000959418" "00001847" "50" "2494" "0" "2494" "0" "c.2494G>A" "r.(?)" "p.(Asp832Asn)" ""
"0000959420" "00001847" "50" "1451" "0" "1451" "0" "c.1451A>G" "r.(?)" "p.(Lys484Arg)" ""
"0000959421" "00001847" "50" "3579" "0" "3579" "0" "c.3579T>A" "r.(?)" "p.(Asp1193Glu)" ""
"0000959422" "00001847" "50" "3664" "0" "3669" "0" "c.3664_3669del" "r.(?)" "p.(Val1222_Glu1223del)" ""
"0000959423" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000959424" "00001847" "50" "4559" "0" "4559" "0" "c.4559A>G" "r.(?)" "p.(Glu1520Gly)" ""
"0000959425" "00001847" "50" "5196" "1134" "5196" "1134" "c.5196+1134C>G" "r.spl" "p.?" ""
"0000959426" "00001847" "50" "6877" "0" "6877" "0" "c.*55G>A" "r.?" "p.?" ""
"0000959429" "00001847" "50" "2382" "4" "2382" "4" "c.2382+4A>G" "r.spl?" "p.?" ""
"0000959449" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000959450" "00001847" "50" "1928" "0" "1928" "0" "c.1928T>G" "r.(?)" "p.(Val643Gly)" ""
"0000959453" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000959458" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" ""
"0000959459" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000959776" "00001847" "50" "5721" "0" "5721" "0" "c.5721C>T" "r.(?)" "p.(Ala1907=)" ""
"0000961202" "00001847" "70" "6480" "-35" "6480" "-35" "c.6480-35A>G" "r.(=)" "p.(=)" ""
"0000961209" "00001847" "70" "5537" "0" "5537" "0" "c.5537T>C" "r.(?)" "p.(Ile1846Thr)" ""
"0000961211" "00001847" "30" "5056" "0" "5056" "0" "c.5056G>A" "r.(?)" "p.(Val1686Met)" ""
"0000961212" "00001847" "50" "5036" "0" "5036" "0" "c.5036A>T" "r.(?)" "p.(Asp1679Val)" ""
"0000961218" "00001847" "30" "1416" "0" "1416" "0" "c.1416T>C" "r.(?)" "p.(=)" ""
"0000961220" "00001847" "30" "570" "20" "570" "20" "c.570+20C>T" "r.(=)" "p.(=)" ""
"0000974158" "00001847" "70" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000974159" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl?" "p.?" ""
"0000974160" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl?" "p.?" ""
"0000974161" "00001847" "50" "5693" "0" "5693" "0" "c.5693G>A" "r.(?)" "p.(Arg1898His)" ""
"0000974162" "00001847" "70" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" ""
"0000974163" "00001847" "50" "4783" "0" "4783" "0" "c.4783A>G" "r.(?)" "p.(Thr1595Ala)" ""
"0000974164" "00001847" "90" "4539" "1100" "4539" "1100" "c.4539+1100A>G" "r.(=)" "p.(=)" ""
"0000974165" "00001847" "70" "4506" "0" "4506" "0" "c.4506C>A" "r.(?)" "p.(Cys1502Ter)" ""
"0000974166" "00001847" "50" "4406" "0" "4406" "0" "c.4406A>C" "r.(?)" "p.(Asn1469Thr)" ""
"0000974167" "00001847" "50" "4394" "0" "4394" "0" "c.4394C>T" "r.(?)" "p.(Ser1465Phe)" ""
"0000974168" "00001847" "90" "4328" "0" "4328" "0" "c.4328G>A" "r.(?)" "p.(Arg1443His)" ""
"0000974169" "00001847" "30" "4297" "0" "4297" "0" "c.4297G>A" "r.(?)" "p.(Val1433Ile)" ""
"0000974170" "00001847" "50" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000974171" "00001847" "30" "2828" "0" "2828" "0" "c.2828G>A" "r.(?)" "p.(Arg943Gln)" ""
"0000974172" "00001847" "50" "2690" "0" "2690" "0" "c.2690C>T" "r.(?)" "p.(Thr897Ile)" ""
"0000974173" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.(Gly863Ala)" ""
"0000974174" "00001847" "30" "1928" "0" "1928" "0" "c.1928T>G" "r.(?)" "p.(Val643Gly)" ""
"0000974175" "00001847" "90" "1822" "0" "1822" "0" "c.1822T>A" "r.(?)" "p.(Phe608Ile)" ""
"0000974176" "00001847" "50" "514" "0" "514" "0" "c.514G>A" "r.(?)" "p.(Gly172Ser)" ""
"0000974177" "00001847" "30" "502" "0" "502" "0" "c.502A>G" "r.(?)" "p.(Ile168Val)" ""
"0000974178" "00001847" "30" "455" "0" "455" "0" "c.455G>A" "r.(?)" "p.(Arg152Gln)" ""
"0000985479" "00001847" "70" "926" "0" "926" "0" "c.926del" "r.(?)" "p.(Pro309GlnfsTer7)" ""
"0000985480" "00001847" "90" "2345" "0" "2345" "0" "c.2345G>A" "r.(?)" "p.(Trp782Ter)" ""
"0000985490" "00001847" "90" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.[(=,5196_5197ins5196+1140_5196+1212)]" "p.[(=,Met1733GlufsTer78)]" ""
"0000985491" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000986103" "00001847" "90" "4537" "0" "4537" "0" "c.4537dup" "r.(?)" "p.(Gln1513ProfsTer42)" "30"
"0000986104" "00001847" "70" "1451" "0" "1451" "0" "c.1451A>G" "r.[(=,1357_1451del)]" "p.[(Lys484Arg,Asp453Glyfs*8)]" "11"
"0000986105" "00001847" "50" "2522" "0" "2522" "0" "c.2522A>C" "r.(?)" "p.(Gln841Pro)" "16"
"0000986106" "00001847" "90" "5380" "0" "5380" "0" "c.5380G>C" "r.(?)" "p.(Ala1794Pro)" "38"
"0000986107" "00001847" "70" "1874" "0" "1912" "0" "c.1874_1912del" "r.(?)" "p.(Gln625_Met637del)" "13"
"0000986108" "00001847" "50" "1356" "4" "1356" "4" "c.1356+4A>G" "r.spl?" "p.?" "10i"
"0000986109" "00001847" "90" "2300" "0" "2300" "0" "c.2300T>A" "r.(?)" "p.(Val767Asp)" "15"
"0000986110" "00001847" "90" "655" "0" "655" "0" "c.655A>T" "r.(?)" "p.(Arg219Ter)" "6"
"0000986111" "00001847" "90" "6310" "0" "6310" "0" "c.6310dup" "r.(?)" "p.(Gln2104ProfsTer31)" "46"
"0000986112" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000986113" "00001847" "90" "1018" "0" "1018" "0" "c.1018T>C" "r.(?)" "p.(Tyr340His)" "8"
"0000986114" "00001847" "70" "5196" "1056" "5196" "1056" "c.5196+1056A>G" "r.5196_5197ins5196+880_5196+1056" "p.Met1733Valfs*2" "36i"
"0000986115" "00001847" "90" "868" "0" "868" "0" "c.868C>T" "r.(?)" "p.(Arg290Trp)" "8"
"0000986116" "00001847" "90" "571" "-2" "571" "-2" "c.571-2A>T" "r.spl" "p.?" "5i"
"0000986117" "00001847" "90" "6122" "0" "6122" "0" "c.6122G>A" "r.(?)" "p.(Gly2041Asp)" "44"
"0000986118" "00001847" "70" "4539" "2064" "4539" "2064" "c.4539+2064C>T" "r.[=,4539_4540ins4539+1891_4540-2162]" "p.[=,Arg1514Leufs*36]" "30i"
"0000986119" "00001847" "90" "288" "0" "288" "0" "c.288C>A" "r.(?)" "p.(Asn96Lys)" "3"
"0000986120" "00001847" "90" "4469" "0" "4469" "0" "c.4469G>A" "r.[4254_4352delinsag,4467_4539del]" "p.[(Ser1418Argfs*80,Cys1490Glufs*12)}" "30"
"0000986121" "00001847" "90" "666" "0" "678" "0" "c.666_678del" "r.(?)" "p.(Lys223MetfsTer14)" "6"
"0000986122" "00001847" "90" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.(Met1?)" "1"
"0000986123" "00001847" "90" "656" "0" "656" "0" "c.656G>C" "r.(?)" "p.(Arg219Thr)" "6"
"0000986124" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000986125" "00001847" "70" "4253" "5" "4253" "5" "c.4253+5G>T" "r.[4129_4253del,=]" "p.[Ile1377Hisfs*3,=]" "28i"
"0000986126" "00001847" "90" "4577" "0" "4577" "0" "c.4577C>T" "r.(?)" "p.(Thr1526Met)" "31"
"0000986127" "00001847" "90" "1609" "0" "1609" "0" "c.1609C>T" "r.(?)" "p.(Arg537Cys)" "12"
"0000986128" "00001847" "70" "4253" "43" "4253" "43" "c.4253+43G>A" "r.[=,4129_4253del]" "p.[=,Ile1377Hisfs*3]" "28i"
"0000986129" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000986130" "00001847" "90" "4880" "0" "4880" "0" "c.4880del" "r.(?)" "p.(Leu1627ArgfsTer35)" "35"
"0000986131" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000986132" "00001847" "90" "2547" "0" "2548" "0" "c.2547_2548dup" "r.(?)" "p.(Tyr850SerfsTer52)" "16"
"0000986133" "00001847" "90" "5196" "1" "5196" "1" "c.5196+1G>A" "r.spl" "p.?" "36i"
"0000986134" "00001847" "90" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000986135" "00001847" "90" "4352" "1" "4352" "1" "c.4352+1G>A" "r.spl" "p.?" "29i"
"0000986136" "00001847" "90" "194" "0" "194" "0" "c.194G>A" "r.(?)" "p.(Gly65Glu)" "3"
"0000986137" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.768_769ins768+1_768+35" "p.Leu257Valfs*17" "6"
"0000986138" "00001847" "90" "1015" "0" "1015" "0" "c.1015T>G" "r.(?)" "p.(Trp339Gly)" "8"
"0000986139" "00001847" "90" "1015" "0" "1015" "0" "c.1015T>G" "r.(?)" "p.(Trp339Gly)" "8"
"0000986140" "00001847" "90" "1015" "0" "1015" "0" "c.1015T>G" "r.(?)" "p.(Trp339Gly)" "8"
"0000986141" "00001847" "90" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071CysfsTer14)" "22"
"0000986142" "00001847" "90" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Arg1640Trp)" "35"
"0000986143" "00001847" "70" "858" "1" "858" "1" "c.858+1G>A" "r.spl" "p.?" "7i"
"0000986144" "00001847" "90" "4253" "43" "4253" "43" "c.4253+43G>A" "r.[=,4129_4253del]" "p.[=,Ile1377Hisfs*3]" "28i"
"0000986145" "00001847" "70" "5560" "0" "5560" "0" "c.5560G>T" "r.(?)" "p.(Val1854Leu)" "39"
"0000986146" "00001847" "70" "16" "0" "16" "0" "c.16C>T" "r.(?)" "p.(Gln6Ter)" "1"
"0000986147" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000986148" "00001847" "70" "66" "0" "66" "0" "c.66G>T" "r.(?)" "p.(Lys22Asn)" "1"
"0000986149" "00001847" "50" "769" "-784" "769" "-784" "c.769-784C>T" "r.[=,768_769ins769-617_769-778]" "p.[=,Leu257Aspfs*3]" "6i"
"0000986150" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000986151" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.768_769ins768+1_768+35" "p.Leu257Valfs*17" "6"
"0000986152" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000986153" "00001847" "90" "4469" "0" "4469" "0" "c.4469G>A" "r.[4254_4352delinsag,4467_4539del]" "p.[(Ser1418Argfs*80,Cys1490Glufs*12)}" "30"
"0000986154" "00001847" "90" "3085" "0" "3085" "0" "c.3085C>T" "r.(?)" "p.(Gln1029Ter)" "21"
"0000986155" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.768_769ins768+1_768+35" "p.Leu257Valfs*17" "6"
"0000986156" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000986157" "00001847" "50" "5177" "0" "5177" "0" "c.5177C>A" "r.(?)" "p.(Thr1726Asn)" "36"
"0000986158" "00001847" "70" "4979" "0" "4979" "0" "c.4979C>A" "r.(?)" "p.(Pro1660His)" "35"
"0000986159" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000986160" "00001847" "90" "4685" "0" "4685" "0" "c.4685T>C" "r.(?)" "p.(Ile1562Thr)" "33"
"0000986161" "00001847" "50" "1275" "0" "1275" "0" "c.1275G>C" "r.(?)" "p.(Arg425Ser)" "10"
"0000986162" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000986163" "00001847" "50" "769" "-784" "769" "-784" "c.769-784C>T" "r.[=,768_769ins769-617_769-778]" "p.[=,Leu257Aspfs*3]" "6i"
"0000986164" "00001847" "90" "2300" "0" "2300" "0" "c.2300T>A" "r.(?)" "p.(Val767Asp)" "15"
"0000986165" "00001847" "70" "4598" "0" "4598" "0" "c.4598T>C" "r.(?)" "p.(Phe1533Ser)" "31"
"0000986166" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000986167" "00001847" "90" "3871" "0" "3871" "0" "c.3871C>T" "r.(?)" "p.(Gln1291Ter)" "27"
"0000986168" "00001847" "90" "571" "-2" "571" "-2" "c.571-2A>T" "r.spl" "p.?" "5i"
"0000986169" "00001847" "90" "4328" "0" "4328" "0" "c.4328G>A" "r.(?)" "p.(Arg1443His)" "29"
"0000986170" "00001847" "90" "247" "0" "250" "0" "c.247_250dup" "r.(?)" "p.(Ser84ThrfsTer16)" "3"
"0000986171" "00001847" "70" "428" "0" "428" "0" "c.428C>T" "r.(?)" "p.(Pro143Leu)" "4"
"0000986172" "00001847" "90" "1957" "0" "1957" "0" "c.1957C>T" "r.(?)" "p.(Arg653Cys)" "14"
"0000986173" "00001847" "90" "3289" "0" "3289" "0" "c.3289A>T" "r.(?)" "p.(Arg1097Ter)" "22"
"0000986174" "00001847" "50" "1321" "0" "1321" "0" "c.1321T>G" "r.(?)" "p.(Phe441Val)" "10"
"0000986175" "00001847" "90" "247" "0" "250" "0" "c.247_250dup" "r.(?)" "p.(Ser84ThrfsTer16)" "3"
"0000986176" "00001847" "90" "4437" "0" "4437" "0" "c.4437G>A" "r.(?)" "p.(Trp1479Ter)" "30"
"0000986177" "00001847" "90" "67" "-2" "67" "-2" "c.67-2A>G" "r.spl" "p.?" "1i"
"0000986178" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000986179" "00001847" "90" "688" "0" "688" "0" "c.688T>A" "r.(?)" "p.(Cys230Ser)" "6"
"0000986180" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000986181" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000986182" "00001847" "90" "2041" "0" "2041" "0" "c.2041C>T" "r.(?)" "p.(Arg681Ter)" "14"
"0000986183" "00001847" "90" "5413" "0" "5413" "0" "c.5413A>G" "r.(?)" "p.(Asn1805Asp)" "38"
"0000986184" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000986185" "00001847" "90" "1957" "0" "1957" "0" "c.1957C>T" "r.(?)" "p.(Arg653Cys)" "14"
"0000986186" "00001847" "50" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000986187" "00001847" "70" "2264" "0" "2264" "0" "c.2264T>C" "r.(?)" "p.(Phe755Ser)" "15"
"0000986188" "00001847" "90" "2041" "0" "2041" "0" "c.2041C>T" "r.(?)" "p.(Arg681Ter)" "14"
"0000986190" "00001847" "90" "5312" "1" "5312" "1" "c.5312+1G>A" "r.spl" "p.?" "37i"
"0000986191" "00001847" "90" "4069" "0" "4069" "0" "c.4069G>A" "r.(?)" "p.(Ala1357Thr)" "27"
"0000986192" "00001847" "90" "6088" "0" "6088" "0" "c.6088C>T" "r.(?)" "p.(Arg2030Ter)" "44"
"0000986193" "00001847" "90" "1317" "0" "1317" "0" "c.1317G>A" "r.(?)" "p.(Trp439Ter)" "10"
"0000986194" "00001847" "90" "3212" "0" "3212" "0" "c.3212C>T" "r.(?)" "p.(Ser1071Leu)" "22"
"0000986195" "00001847" "70" "428" "0" "428" "0" "c.428C>T" "r.(?)" "p.(Pro143Leu)" "4"
"0000986196" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000986197" "00001847" "70" "2567" "0" "2567" "0" "c.2567A>C" "r.(?)" "p.(Tyr856Ser)" "16"
"0000986198" "00001847" "90" "1937" "1" "1937" "1" "c.1937+1G>A" "r.spl" "p.?" "13i"
"0000986199" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000986200" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000986201" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000986202" "00001847" "90" "454" "0" "454" "0" "c.454C>T" "r.(?)" "p.(Arg152Ter)" "5"
"0000986203" "00001847" "50" "262" "0" "262" "0" "c.262G>A" "r.(?)" "p.(Gly88Arg)" "3"
"0000986204" "00001847" "90" "3259" "0" "3259" "0" "c.3259G>A" "r.(?)" "p.(Glu1087Lys)" "22"
"0000986205" "00001847" "70" "2069" "0" "2069" "0" "c.2069G>T" "r.(?)" "p.(Gly690Val)" "14"
"0000986206" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000986207" "00001847" "90" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.(Met1?)" "1"
"0000986208" "00001847" "90" "5413" "0" "5413" "0" "c.5413A>G" "r.(?)" "p.(Asn1805Asp)" "38"
"0000986209" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000986210" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000986211" "00001847" "90" "735" "0" "735" "0" "c.735T>G" "r.(?)" "p.(Tyr245Ter)" "6"
"0000986212" "00001847" "90" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000986213" "00001847" "90" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000986214" "00001847" "90" "5018" "2" "5018" "2" "c.5018+2T>C" "r.spl" "p.?" "35i"
"0000986215" "00001847" "90" "247" "0" "250" "0" "c.247_250dup" "r.(?)" "p.(Ser84ThrfsTer16)" "3"
"0000986216" "00001847" "90" "247" "0" "250" "0" "c.247_250dup" "r.(?)" "p.(Ser84ThrfsTer16)" "3"
"0000986217" "00001847" "70" "2390" "0" "2390" "0" "c.2390T>C" "r.(?)" "p.(Leu797Pro)" "16"
"0000986218" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000986219" "00001847" "90" "4926" "0" "4926" "0" "c.4926C>G" "r.(?)" "p.(Ser1642Arg)" "35"
"0000986220" "00001847" "90" "3212" "0" "3212" "0" "c.3212C>T" "r.(?)" "p.(Ser1071Leu)" "22"
"0000986221" "00001847" "90" "5380" "0" "5380" "0" "c.5380G>C" "r.(?)" "p.(Ala1794Pro)" "38"
"0000986222" "00001847" "90" "2791" "0" "2791" "0" "c.2791G>A" "r.(?)" "p.(Val931Met)" "19"
"0000986223" "00001847" "70" "1816" "0" "1816" "0" "c.1816G>A" "r.(?)" "p.(Gly606Ser)" "13"
"0000986224" "00001847" "90" "5380" "0" "5380" "0" "c.5380G>C" "r.(?)" "p.(Ala1794Pro)" "38"
"0000986225" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000986226" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000986227" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000986228" "00001847" "90" "1648" "0" "1648" "0" "c.1648G>A" "r.(?)" "p.(Gly550Arg)" "12"
"0000986229" "00001847" "90" "4234" "0" "4234" "0" "c.4234C>T" "r.(?)" "p.(Gln1412Ter)" "28"
"0000986230" "00001847" "90" "3272" "0" "3272" "0" "c.3272G>A" "r.(?)" "p.(Gly1091Glu)" "22"
"0000986231" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000986232" "00001847" "70" "428" "0" "428" "0" "c.428C>T" "r.(?)" "p.(Pro143Leu)" "4"
"0000986233" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000986234" "00001847" "90" "2041" "0" "2041" "0" "c.2041C>T" "r.(?)" "p.(Arg681Ter)" "14"
"0000986235" "00001847" "50" "1586" "0" "1586" "0" "c.1586A>G" "r.(?)" "p.(Asn529Ser)" "12"
"0000986236" "00001847" "90" "67" "-2" "67" "-2" "c.67-2A>G" "r.spl" "p.?" "1i"
"0000986237" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000986238" "00001847" "90" "885" "0" "885" "0" "c.885del" "r.(?)" "p.(Leu296CysfsTer4)" "8"
"0000986239" "00001847" "50" "2407" "0" "2407" "0" "c.2407G>C" "r.(?)" "p.(Gly803Arg)" "16"
"0000986240" "00001847" "70" "2390" "0" "2390" "0" "c.2390T>C" "r.(?)" "p.(Leu797Pro)" "16"
"0000986241" "00001847" "70" "4253" "43" "4253" "43" "c.4253+43G>A" "r.[=,4129_4253del]" "p.[=,Ile1377Hisfs*3]" "28i"
"0000986242" "00001847" "90" "571" "-2" "571" "-2" "c.571-2A>T" "r.spl" "p.?" "5i"
"0000986243" "00001847" "90" "571" "-2" "571" "-2" "c.571-2A>T" "r.spl" "p.?" "5i"
"0000986244" "00001847" "90" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000986245" "00001847" "90" "571" "-2" "571" "-2" "c.571-2A>T" "r.spl" "p.?" "5i"
"0000986246" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000986247" "00001847" "70" "4253" "43" "4253" "43" "c.4253+43G>A" "r.[=,4129_4253del]" "p.[=,Ile1377Hisfs*3]" "28i"
"0000986248" "00001847" "90" "160" "0" "160" "0" "c.160T>G" "r.(?)" "p.(Cys54Gly)" "2"
"0000986249" "00001847" "90" "1343" "0" "1343" "0" "c.1343T>A" "r.(?)" "p.(Met448Lys)" "10"
"0000986250" "00001847" "50" "2919" "-774" "2919" "-774" "c.2919-774A>G" "r.spl" "p.[Leu973Phefs*3,=]" "19i"
"0000986251" "00001847" "50" "3670" "0" "3670" "0" "c.3670T>G" "r.(?)" "p.(Cys1224Gly)" "25"
"0000986252" "00001847" "50" "1009" "0" "1009" "0" "c.1009T>C" "r.(?)" "p.(Phe337Leu)" "8"
"0000986253" "00001847" "70" "4831" "0" "4831" "0" "c.4831del" "r.(?)" "p.(Thr1611LeufsTer51)" "34"
"0000986254" "00001847" "50" "1299" "0" "1299" "0" "c.1299A>G" "r.spl?" "p.(?)" "10"
"0000986255" "00001847" "50" "571" "0" "768" "0" "c.571_768del" "r.(?)" "p.(Phe191_Val256del)" "6"
"0000986256" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" "22"
"0000986257" "00001847" "90" "4457" "0" "4457" "0" "c.4457C>T" "r.4457c>u" "p.Pro1486Leu" "30"
"0000986258" "00001847" "70" "4253" "43" "4253" "43" "c.4253+43G>A" "r.[=,4129_4253del]" "p.[=,Ile1377Hisfs*3]" "28i"
"0000986259" "00001847" "90" "3943" "0" "3943" "0" "c.3943C>T" "r.(?)" "p.(Gln1315Ter)" "27"
"0000986260" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" "13"
"0000986261" "00001847" "90" "4919" "0" "4919" "0" "c.4919G>A" "r.(?)" "p.(Arg1640Gln)" "35"
"0000986262" "00001847" "90" "5175" "0" "5175" "0" "c.5175dup" "r.(?)" "p.(Thr1726AspfsTer61)" "36"
"0000986263" "00001847" "90" "67" "-2" "67" "-2" "c.67-2A>G" "r.spl" "p.?" "1i"
"0000986264" "00001847" "90" "4234" "0" "4234" "0" "c.4234C>T" "r.(?)" "p.(Gln1412Ter)" "28"
"0000986265" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000986266" "00001847" "90" "2041" "0" "2041" "0" "c.2041C>T" "r.(?)" "p.(Arg681Ter)" "14"
"0000986267" "00001847" "90" "4919" "0" "4919" "0" "c.4919G>A" "r.(?)" "p.(Arg1640Gln)" "35"
"0000986268" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000986269" "00001847" "70" "2804" "0" "2804" "0" "c.2804T>C" "r.(?)" "p.(Val935Ala)" "19"
"0000986270" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000986271" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000986272" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000986273" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000986274" "00001847" "90" "1819" "0" "1819" "0" "c.1819G>C" "r.(?)" "p.(Gly607Arg)" "13"
"0000986275" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000986276" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000986277" "00001847" "90" "5018" "5" "5018" "5" "c.5018+5G>A" "r.4849_5018del" "p.Val1617Alafs*113" "35i"
"0000986278" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000986279" "00001847" "90" "1496" "0" "1496" "0" "c.1496G>A" "r.(?)" "p.(Trp499Ter)" "11"
"0000986280" "00001847" "90" "454" "0" "454" "0" "c.454C>T" "r.(?)" "p.(Arg152Ter)" "5"
"0000986281" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000986282" "00001847" "90" "214" "0" "214" "0" "c.214G>A" "r.(?)" "p.(Gly72Arg)" "3"
"0000986283" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.spl" "p.[Gly863Ala,Gly863del]" "17"
"0000986284" "00001847" "70" "2618" "0" "2618" "0" "c.2618T>G" "r.(?)" "p.(Phe873Cys)" "17"
"0000986285" "00001847" "70" "4539" "2064" "4539" "2064" "c.4539+2064C>T" "r.[=,4539_4540ins4539+1891_4540-2162]" "p.[=,Arg1514Leufs*36]" "30i"
"0000986286" "00001847" "70" "4539" "2001" "4539" "2001" "c.4539+2001G>A" "r.[=,4539_4540ins4539+1891_4540-2162]" "p.[=,Arg1514Leufs*36]" "30i"
"0000986287" "00001847" "90" "5196" "1" "5196" "1" "c.5196+1G>A" "r.spl" "p.?" "36i"
"0000986288" "00001847" "50" "4254" "-15" "4254" "-15" "c.4254-15T>A" "r.4254_4352del" "p.Ser1418_ Pro1451delinsArg" "28i"
"0000986289" "00001847" "70" "3608" "-1" "3813" "1" "c.(3607+1_3608-1)_(3813+1_3814-1)del" "r.?" "p.(?)" "24i_25i"
"0000986290" "00001847" "90" "656" "0" "656" "0" "c.656G>C" "r.(?)" "p.(Arg219Thr)" "6"
"0000986291" "00001847" "90" "294" "0" "294" "0" "c.294C>G" "r.(?)" "p.(Asn98Lys)" "3"
"0000986292" "00001847" "90" "656" "0" "656" "0" "c.656G>C" "r.(?)" "p.(Arg219Thr)" "6"
"0000986611" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000986612" "00001847" "90" "6449" "0" "6449" "0" "c.6449G>A" "r.(?)" "p.(Cys2150Tyr)" "47"
"0000986613" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000986614" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000986615" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000986616" "00001847" "50" "3329" "-124" "3329" "-124" "c.3329-124G>T" "r.[(3328_3329ins3329-109_3329-1,=)]" "p.[(Gly1110Valfs*4,=)]" "22i"
"0000986617" "00001847" "90" "4353" "-1" "4539" "1" "c.(4352+1_4353-1)_(4539+1_4540-1)del" "r.?" "p.(Glu1504Profs*42)" "29i_30i"
"0000986618" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000986619" "00001847" "90" "6386" "2" "6386" "2" "c.6386+2C>G" "r.spl" "p.?" "46i"
"0000986620" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000986621" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000986622" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000986623" "00001847" "70" "5530" "0" "5530" "0" "c.5530G>T" "r.(?)" "p.(Gly1844Cys)" "39"
"0000986624" "00001847" "90" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000986625" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000986626" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000986627" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000986628" "00001847" "90" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.[=,5196_5197ins5196+1140_5196+1212]" "p.[=,Met1733Glufs*78]" "36i"
"0000986629" "00001847" "90" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000986630" "00001847" "90" "769" "-784" "769" "-784" "c.769-784C>T" "r.[=,768_769ins769-617_769-778]" "p.[=,Leu257Aspfs*3]" "6i"
"0000986631" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000986632" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000986633" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.spl" "p.[Gly863Ala,Gly863del]" "17"
"0000986634" "00001847" "90" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000986635" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.768_769ins768+1_768+35" "p.Leu257Valfs*17" "6"
"0000986636" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000986637" "00001847" "90" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000986638" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000986639" "00001847" "90" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000986640" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000986641" "00001847" "70" "4720" "0" "4720" "0" "c.4720del" "r.(?)" "p.(Glu1574LysfsTer7)" "33"
"0000986642" "00001847" "90" "6221" "0" "6221" "0" "c.6221G>T" "r.(?)" "p.(Gly2074Val)" "45"
"0000986643" "00001847" "90" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000986644" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000986645" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000986646" "00001847" "90" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000986647" "00001847" "70" "6426" "0" "6426" "0" "c.6426C>G" "r.(?)" "p.(Ile2142Met)" "47"
"0000986648" "00001847" "90" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000986649" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000986650" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000986651" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000986652" "00001847" "70" "6086" "0" "6086" "0" "c.6086G>T" "r.(?)" "p.(Gly2029Val)" "44"
"0000986653" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000986654" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000986655" "00001847" "50" "5836" "-3" "5836" "-3" "c.5836-3C>A" "r.5835_5836ins5836+1_5836+30" "p.Lys1945_Ile1946Pheins10" "41i"
"0000986656" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000986657" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000986658" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000986659" "00001847" "90" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000986660" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000986661" "00001847" "70" "4253" "43" "4253" "43" "c.4253+43G>A" "r.[=,4129_4253del]" "p.[=,Ile1377Hisfs*3]" "28i"
"0000986662" "00001847" "90" "4469" "0" "4469" "0" "c.4469G>A" "r.[4254_4352delinsag,4467_4539del]" "p.[(Ser1418Argfs*80,Cys1490Glufs*12)}" "30"
"0000986663" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000986664" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000986665" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000986666" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000986667" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000986668" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000986669" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000986670" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000986671" "00001847" "90" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000986672" "00001847" "70" "4253" "43" "4253" "43" "c.4253+43G>A" "r.[=,4129_4253del]" "p.[=,Ile1377Hisfs*3]" "28i"
"0000986673" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000986674" "00001847" "90" "6386" "2" "6386" "2" "c.6386+2C>G" "r.spl" "p.?" "46i"
"0000986675" "00001847" "90" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000986676" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000986677" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000986678" "00001847" "90" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000986679" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000986680" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000986681" "00001847" "50" "6545" "0" "6580" "0" "c.6545_6580del" "r.(?)" "p.(Leu2182_Phe2193del)" "48"
"0000986682" "00001847" "50" "6545" "0" "6580" "0" "c.6545_6580del" "r.(?)" "p.(Leu2182_Phe2193del)" "48"
"0000986683" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000986684" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000986685" "00001847" "50" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000986686" "00001847" "90" "5778" "0" "5779" "0" "c.5778_5779del" "r.(?)" "p.(Arg1927AsnfsTer7)" "41"
"0000986687" "00001847" "90" "4793" "0" "4793" "0" "c.4793C>A" "r.(?)" "p.(Ala1598Asp)" "34"
"0000986688" "00001847" "70" "5196" "1056" "5196" "1056" "c.5196+1056A>G" "r.5196_5197ins5196+880_5196+1056" "p.Met1733Valfs*2" "36i"
"0000986689" "00001847" "90" "6238" "0" "6239" "0" "c.6238_6239del" "r.(?)" "p.(Ser2080HisfsTer16)" "45"
"0000986690" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000986691" "00001847" "70" "1645" "0" "1645" "0" "c.1645G>A" "r.(?)" "p.(Ala549Thr)" "40"
"0000986692" "00001847" "70" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "12"
"0000986693" "00001847" "90" "6088" "0" "6088" "0" "c.6088C>T" "r.(?)" "p.(Arg2030Ter)" "44"
"0000986694" "00001847" "90" "6316" "0" "6316" "0" "c.6316C>T" "r.(?)" "p.(Arg2106Cys)" "46"
"0000986695" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000986696" "00001847" "90" "4667" "1" "4667" "1" "c.4667+1G>A" "r.spl" "p.?" "32i"
"0000986697" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000986698" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000986699" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000986700" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000986701" "00001847" "90" "769" "-784" "769" "-784" "c.769-784C>T" "r.[=,768_769ins769-617_769-778]" "p.[=,Leu257Aspfs*3]" "6i"
"0000986702" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000986703" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000986704" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000986705" "00001847" "90" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000986706" "00001847" "70" "4539" "2" "4539" "2" "c.4539+2T>C" "r.spl" "p.?" "30i"
"0000986707" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000986708" "00001847" "70" "4253" "43" "4253" "43" "c.4253+43G>A" "r.[=,4129_4253del]" "p.[=,Ile1377Hisfs*3]" "28i"
"0000986709" "00001847" "90" "5977" "0" "5977" "0" "c.5977del" "r.(?)" "p.(Ser1993GlnfsTer6)" "43"
"0000986710" "00001847" "70" "3815" "0" "3815" "0" "c.3815T>G" "r.(?)" "p.(Ile1272Ser)" "26"
"0000986711" "00001847" "90" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" "44"
"0000986712" "00001847" "90" "6146" "0" "6146" "0" "c.6146del" "r.(?)" "p.(Lys2049ArgfsTer12)" "44"
"0000986713" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000986714" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000986715" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000986716" "00001847" "90" "5977" "0" "5977" "0" "c.5977del" "r.(?)" "p.(Ser1993GlnfsTer6)" "43"
"0000986717" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000986719" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000986720" "00001847" "90" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000986721" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000986722" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000986723" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000986724" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000986725" "00001847" "70" "4253" "43" "4253" "43" "c.4253+43G>A" "r.[=,4129_4253del]" "p.[=,Ile1377Hisfs*3]" "28i"
"0000986726" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000986727" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000986728" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000986729" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000986730" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000986731" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000986732" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000986733" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" "6"
"0000986734" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000986735" "00001847" "90" "5087" "0" "5087" "0" "c.5087G>A" "r.(?)" "p.(Ser1696Asn)" "36"
"0000986736" "00001847" "90" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000986737" "00001847" "90" "6005" "1" "6005" "1" "c.6005+1G>A" "r.spl" "p.?" "43i"
"0000986738" "00001847" "90" "5087" "0" "5087" "0" "c.5087G>A" "r.(?)" "p.(Ser1696Asn)" "36"
"0000986739" "00001847" "90" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" "44"
"0000986740" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000986741" "00001847" "90" "6088" "0" "6088" "0" "c.6088C>T" "r.(?)" "p.(Arg2030Ter)" "44"
"0000986742" "00001847" "90" "6658" "0" "6658" "0" "c.6658C>T" "r.(?)" "p.(Gln2220Ter)" "48"
"0000986743" "00001847" "90" "2549" "0" "2549" "0" "c.2549A>G" "r.(?)" "p.(Tyr850Cys)" "16"
"0000986744" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000986745" "00001847" "70" "5692" "0" "5692" "0" "c.5692C>T" "r.(?)" "p.(Arg1898Cys)" "40"
"0000986746" "00001847" "90" "5942" "0" "5942" "0" "c.5942C>G" "r.(?)" "p.(Thr1981Arg)" "43"
"0000986747" "00001847" "70" "5939" "0" "5939" "0" "c.5939C>T" "r.(?)" "p.(Thr1980Ile)" "43"
"0000986748" "00001847" "90" "6282" "1" "6282" "1" "c.6282+1G>C" "r.spl" "p.?" "45i"
"0000986749" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000986750" "00001847" "90" "6088" "0" "6088" "0" "c.6088C>T" "r.(?)" "p.(Arg2030Ter)" "44"
"0000986751" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000986752" "00001847" "90" "4352" "1" "4352" "1" "c.4352+1G>A" "r.spl" "p.?" "29i"
"0000986753" "00001847" "90" "5044" "0" "5058" "0" "c.5044_5058del" "r.(?)" "p.(Val1682_Val1686del)" "36"
"0000986754" "00001847" "90" "5898" "2" "5898" "2" "c.5898+2T>C" "r.spl" "p.?" "42i"
"0000986755" "00001847" "90" "5460" "1" "5460" "1" "c.5460+1G>A" "r.spl" "p.?" "38i"
"0000986756" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000986757" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000986758" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000986759" "00001847" "70" "5778" "0" "5779" "0" "c.5778_5779del" "r.(?)" "p.(Arg1927AsnfsTer7)" "41"
"0000986761" "00001847" "70" "5056" "0" "5056" "0" "c.5056G>A" "r.(?)" "p.(Val1686Met)" "36"
"0000986763" "00001847" "90" "6088" "0" "6088" "0" "c.6088C>T" "r.(?)" "p.(Arg2030Ter)" "44"
"0000986764" "00001847" "90" "5560" "0" "5560" "0" "c.5560G>T" "r.(?)" "p.(Val1854Leu)" "39"
"0000986765" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000986766" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000986767" "00001847" "90" "4253" "43" "4253" "43" "c.4253+43G>A" "r.[=,4129_4253del]" "p.[=,Ile1377Hisfs*3]" "28i"
"0000986768" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000986769" "00001847" "90" "5942" "0" "5942" "0" "c.5942C>G" "r.(?)" "p.(Thr1981Arg)" "43"
"0000986770" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000986771" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000986772" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000986773" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000986774" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.spl" "p.[Gly863Ala,Gly863del]" "17"
"0000986775" "00001847" "90" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000986776" "00001847" "90" "5935" "0" "5935" "0" "c.5935A>G" "r.(?)" "p.(Thr1979Ala)" "43"
"0000986777" "00001847" "90" "769" "-784" "769" "-784" "c.769-784C>T" "r.[=,768_769ins769-617_769-778]" "p.[=,Leu257Aspfs*3]" "6i"
"0000986778" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" "28"
"0000986779" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000986780" "00001847" "90" "5977" "0" "5977" "0" "c.5977del" "r.(?)" "p.(Ser1993GlnfsTer6)" "43"
"0000986781" "00001847" "70" "4253" "43" "4253" "43" "c.4253+43G>A" "r.[=,4129_4253del]" "p.[=,Ile1377Hisfs*3]" "28i"
"0000986782" "00001847" "70" "4307" "0" "4307" "0" "c.4307A>T" "r.(?)" "p.(Asn1436Ile)" "29"
"0000986783" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000986784" "00001847" "90" "6088" "0" "6088" "0" "c.6088C>T" "r.(?)" "p.(Arg2030Ter)" "44"
"0000986785" "00001847" "90" "6415" "0" "6415" "0" "c.6415C>T" "r.(?)" "p.(Arg2139Trp)" "47"
"0000986786" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000986787" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000986788" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000986789" "00001847" "90" "6282" "1" "6282" "1" "c.6282+1G>C" "r.spl" "p.?" "45i"
"0000986790" "00001847" "90" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000986791" "00001847" "90" "6282" "1" "6282" "1" "c.6282+1G>C" "r.spl" "p.?" "45i"
"0000986792" "00001847" "90" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000986793" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000986794" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000986795" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000986796" "00001847" "90" "4354" "0" "4354" "0" "c.4354G>T" "r.(?)" "p.(Glu1452Ter)" "30"
"0000986797" "00001847" "90" "587" "0" "587" "0" "c.587C>T" "r.(?)" "p.(Pro196Leu)" "6"
"0000986798" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000986799" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000986800" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000986801" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000986802" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000986803" "00001847" "90" "4457" "0" "4457" "0" "c.4457C>T" "r.4457c>u" "p.Pro1486Leu" "30"
"0000986804" "00001847" "90" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000986805" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000986806" "00001847" "90" "4919" "0" "4919" "0" "c.4919G>A" "r.(?)" "p.(Arg1640Gln)" "35"
"0000986807" "00001847" "50" "6480" "-35" "6480" "-35" "c.6480-35A>G" "r.spl" "p.[Phe2161Profs*3,=]" "47i"
"0000986808" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" "46"
"0000986809" "00001847" "70" "5196" "1056" "5196" "1056" "c.5196+1056A>G" "r.5196_5197ins5196+880_5196+1056" "p.Met1733Valfs*2" "36i"
"0000986810" "00001847" "90" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.[=,5196_5197ins5196+1140_5196+1212]" "p.[=,Met1733Glufs*78]" "36i"
"0000986811" "00001847" "70" "5585" "-2" "5585" "-2" "c.5585-2A>C" "r.spl" "p.?" "39i"
"0000986812" "00001847" "70" "5395" "0" "5395" "0" "c.5395A>G" "r.(?)" "p.(Asn1799Asp)" "38"
"0000986813" "00001847" "70" "4253" "43" "4253" "43" "c.4253+43G>A" "r.[=,4129_4253del]" "p.[=,Ile1377Hisfs*3]" "28i"
"0000986814" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000986815" "00001847" "90" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000986816" "00001847" "90" "6453" "0" "6453" "0" "c.6453G>T" "r.(?)" "p.(Met2151Ile)" "47"
"0000986817" "00001847" "90" "6455" "0" "6455" "0" "c.6455G>T" "r.(?)" "p.(Gly2152Val)" "47"
"0000986818" "00001847" "90" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" "44"
"0000986819" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000986820" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000986821" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000986822" "00001847" "50" "5329" "0" "5329" "0" "c.5329A>T" "r.(?)" "p.(Met1777Leu)" "38"
"0000986823" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000986824" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000986825" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000986826" "00001847" "90" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" "12"
"0000986827" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000986828" "00001847" "70" "3181" "0" "3181" "0" "c.3181del" "r.(?)" "p.(Asp1061ThrfsTer23)" "21"
"0000986829" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000986830" "00001847" "90" "4234" "0" "4234" "0" "c.4234C>T" "r.(?)" "p.(Gln1412Ter)" "28"
"0000986831" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000986833" "00001847" "90" "4685" "0" "4685" "0" "c.4685T>C" "r.(?)" "p.(Ile1562Thr)" "33"
"0000986834" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000986836" "00001847" "90" "4685" "0" "4685" "0" "c.4685T>C" "r.(?)" "p.(Ile1562Thr)" "33"
"0000986837" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000986838" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000986839" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000986840" "00001847" "90" "5899" "-2" "5899" "-2" "c.5899-2del" "r.spl" "p.?" "42i"
"0000986841" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000986842" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000986843" "00001847" "90" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000986844" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" "19"
"0000986845" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000986846" "00001847" "90" "4594" "0" "4594" "0" "c.4594G>A" "r.(?)" "p.(Asp1532Asn)" "31"
"0000986847" "00001847" "90" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000986848" "00001847" "70" "1933" "0" "1933" "0" "c.1933G>T" "r.(?)" "p.(Asp645Tyr)" "13"
"0000986849" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.spl" "p.[Gly863Ala,Gly863del]" "17"
"0000986850" "00001847" "90" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000986851" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" "21"
"0000986852" "00001847" "90" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" "44"
"0000986853" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.[5461_5714del,5461_5584del]" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" "38i"
"0000986854" "00001847" "90" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000986855" "00001847" "90" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000986856" "00001847" "90" "4539" "1" "4539" "1" "c.4539+1G>T" "r.spl" "p.?" "30i"
"0000986857" "00001847" "90" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" "44"
"0000986859" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000986861" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000986862" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000986863" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000986864" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.spl" "p.[Gly863Ala,Gly863del]" "17"
"0000986865" "00001847" "90" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000986866" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.768_769ins768+1_768+35" "p.Leu257Valfs*17" "6"
"0000986867" "00001847" "90" "926" "0" "926" "0" "c.926C>G" "r.(?)" "p.(Pro309Arg)" "8"
"0000986868" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.[=,5585_5714del]" "p.[=,Glu1863Leufs*33]" "40i"
"0000986869" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.spl" "p.[Gly863Ala,Gly863del]" "17"
"0000986870" "00001847" "90" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" "40"
"0000986871" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.768_769ins768+1_768+35" "p.Leu257Valfs*17" "6"
"0000986969" "00001847" "70" "4875" "0" "4875" "0" "c.4875T>A" "r.(?)" "p.(His1625Gln)" "35"
"0000986970" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" "42"
"0000986971" "00001847" "30" "6817" "-679" "6817" "-679" "c.6817-679C>G" "r.(=)" "p.(=)" "49i"
"0000986972" "00001847" "70" "4539" "2028" "4539" "2028" "c.4539+2028C>T" "r.[(=,4539_4540ins[4539+1891_4539+2027;u;4539+2029_4540-2162])]" "p.[(=,Arg1514Leufs*36)]" "30i"
"0000986978" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" ""
"0000986979" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" ""
"0000986981" "00001847" "90" "6077" "0" "6077" "0" "c.6077T>C" "r.(?)" "p.(Leu2026Pro)" ""
"0000986982" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000986983" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000986984" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000986985" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000986986" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000986987" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.(Gly863Ala)" ""
"0000986988" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000986989" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" ""
"0000986990" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" ""
"0000986991" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000986992" "00001847" "90" "4234" "0" "4234" "0" "c.4234C>T" "r.(?)" "p.(Gln1412Ter)" ""
"0000986994" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000986995" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" ""
"0000986996" "00001847" "70" "4253" "43" "4253" "43" "c.4253+43G>A" "r.spl" "p.[=,Ile1377Hisfs*3]" ""
"0000986997" "00001847" "70" "4463" "0" "4463" "0" "c.4463G>A" "r.(?)" "p.(Cys1488Tyr)" ""
"0000986998" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" ""
"0000986999" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000987000" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000987002" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000987004" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000987007" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000987009" "00001847" "70" "5549" "0" "5549" "0" "c.5549T>C" "r.(?)" "p.(Leu1850Pro)" ""
"0000987013" "00001847" "90" "1937" "1" "1937" "1" "c.1937+1G>A" "r.spl" "p.?" ""
"0000987014" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000987015" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000987016" "00001847" "70" "4253" "4" "4253" "4" "c.4253+4C>T" "r.spl" "p.Ile1377Hisfs*3" ""
"0000987017" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000987018" "00001847" "50" "769" "-784" "769" "-784" "c.769-784C>T" "r.spl" "p.[=,Leu257Aspfs*3]" ""
"0000987019" "00001847" "90" "950" "0" "950" "0" "c.950del" "r.(?)" "p.(Gly317AlafsTer57)" ""
"0000987020" "00001847" "70" "4253" "43" "4253" "43" "c.4253+43G>A" "r.spl" "p.[=,Ile1377Hisfs*3]" ""
"0000987021" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000987022" "00001847" "90" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" ""
"0000987023" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" ""
"0000987025" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.[=,Glu1863Leufs*33]" ""
"0000987026" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000987027" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000987028" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000987029" "00001847" "90" "6316" "0" "6316" "0" "c.6316C>T" "r.(?)" "p.(Arg2106Cys)" ""
"0000987030" "00001847" "90" "1015" "0" "1015" "0" "c.1015T>G" "r.(?)" "p.(Trp339Gly)" ""
"0000987031" "00001847" "90" "1015" "0" "1015" "0" "c.1015T>G" "r.(?)" "p.(Trp339Gly)" ""
"0000987032" "00001847" "90" "1015" "0" "1015" "0" "c.1015T>G" "r.(?)" "p.(Trp339Gly)" ""
"0000987033" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000987035" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000987036" "00001847" "70" "6107" "0" "6107" "0" "c.6107A>G" "r.(?)" "p.(Tyr2036Cys)" ""
"0000987037" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000987039" "00001847" "90" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071CysfsTer14)" ""
"0000987040" "00001847" "70" "3667" "0" "3667" "0" "c.3667dup" "r.(?)" "p.(Glu1223GlyfsTer14)" ""
"0000987041" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000987042" "00001847" "70" "6718" "0" "6718" "0" "c.6718A>G" "r.(?)" "p.(Thr2240Ala)" ""
"0000987043" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000987044" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000987045" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000987047" "00001847" "90" "5077" "0" "5077" "0" "c.5077G>A" "r.(?)" "p.(Val1693Ile)" ""
"0000987048" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000987049" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000987050" "00001847" "70" "5819" "0" "5819" "0" "c.5819T>C" "r.(?)" "p.(Leu1940Pro)" ""
"0000987051" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000987052" "00001847" "70" "2" "0" "2" "0" "c.2T>C" "r.(?)" "p.(Met1?)" ""
"0000987053" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" ""
"0000987054" "00001847" "70" "1531" "0" "1531" "0" "c.1531C>T" "r.(?)" "p.(Arg511Cys)" ""
"0000987055" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" ""
"0000987056" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.(Gly863Ala)" ""
"0000987057" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000987058" "00001847" "90" "454" "0" "454" "0" "c.454C>T" "r.(?)" "p.(Arg152Ter)" ""
"0000987059" "00001847" "90" "4353" "-1" "4539" "1" "c.(4352+1_4353-1)_(4539+1_4540-1)del" "r.?" "p.(Glu1504Profs*42)" ""
"0000987062" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000987063" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.(Gly863Ala)" ""
"0000987064" "00001847" "90" "3364" "0" "3364" "0" "c.3364G>A" "r.(?)" "p.(Glu1122Lys)" ""
"0000987070" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.[=,Glu1863Leufs*33]" ""
"0000987071" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000987072" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000987073" "00001847" "90" "4234" "0" "4234" "0" "c.4234C>T" "r.(?)" "p.(Gln1412Ter)" ""
"0000987074" "00001847" "70" "6320" "0" "6320" "0" "c.6320G>C" "r.(?)" "p.(Arg2107Pro)" ""
"0000987075" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" ""
"0000987076" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000987077" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" ""
"0000987078" "00001847" "90" "4457" "0" "4457" "0" "c.4457C>T" "r.(?)" "p.(Pro1486Leu)" ""
"0000987079" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl" "p.[Thr1821Aspfs*6,Thr1821Valfs*13]" ""
"0000987080" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.(Gly863Ala)" ""
"0000987081" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.(Gly863Ala)" ""
"0000987082" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.(Gly863Ala)" ""
"0000987083" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.(Gly863Ala)" ""
"0000987084" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000987085" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.(Gly863Ala)" ""
"0000987086" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000987087" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000987088" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000987089" "00001847" "90" "4353" "-1" "4539" "1" "c.(4352+1_4353-1)_(4539+1_4540-1)del" "r.?" "p.(Glu1504Profs*42)" ""
"0000987090" "00001847" "50" "3322" "0" "3322" "0" "c.3322C>T" "r.(?)" "p.(Arg1108Cys)" ""
"0000987091" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000987092" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000987093" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000987094" "00001847" "90" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" ""
"0000987095" "00001847" "90" "5460" "1" "5460" "1" "c.5460+1G>A" "r.spl" "p.?" ""
"0000987096" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000987097" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000987098" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" ""
"0000987100" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000987101" "00001847" "70" "6592" "0" "6592" "0" "c.6592C>T" "r.(?)" "p.(Gln2198Ter)" ""
"0000987103" "00001847" "90" "3041" "0" "3041" "0" "c.3041T>G" "r.(?)" "p.(Leu1014Arg)" ""
"0000987104" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000987105" "00001847" "90" "4353" "-1" "4539" "1" "c.(4352+1_4353-1)_(4539+1_4540-1)del" "r.?" "p.(Glu1504Profs*42)" ""
"0000987106" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000987107" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000987109" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000987110" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000987111" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000987112" "00001847" "90" "4537" "0" "4537" "0" "c.4537dup" "r.(?)" "p.(Gln1513ProfsTer42)" ""
"0000987113" "00001847" "70" "4253" "43" "4253" "43" "c.4253+43G>A" "r.spl" "p.[=,Ile1377Hisfs*3]" ""
"0000987114" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000987115" "00001847" "90" "5018" "2" "5018" "2" "c.5018+2T>A" "r.spl" "p.?" ""
"0000987116" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000987117" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000987118" "00001847" "90" "1957" "0" "1957" "0" "c.1957C>T" "r.(?)" "p.(Arg653Cys)" ""
"0000987119" "00001847" "90" "1557" "0" "1557" "0" "c.1557C>A" "r.(?)" "p.(Cys519Ter)" ""
"0000987120" "00001847" "90" "1957" "0" "1957" "0" "c.1957C>T" "r.(?)" "p.(Arg653Cys)" ""
"0000987121" "00001847" "90" "6445" "0" "6445" "0" "c.6445C>T" "r.(?)" "p.(Arg2149Ter)" ""
"0000987122" "00001847" "70" "428" "0" "428" "0" "c.428C>T" "r.(?)" "p.(Pro143Leu)" ""
"0000987123" "00001847" "90" "2291" "0" "2291" "0" "c.2291G>A" "r.(?)" "p.(Cys764Tyr)" ""
"0000987124" "00001847" "90" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" ""
"0000987125" "00001847" "70" "428" "0" "428" "0" "c.428C>T" "r.(?)" "p.(Pro143Leu)" ""
"0000987126" "00001847" "90" "4537" "0" "4537" "0" "c.4537dup" "r.(?)" "p.(Gln1513ProfsTer42)" ""
"0000987127" "00001847" "90" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.spl" "p.[=,Met1733Glufs*78]" ""
"0000987128" "00001847" "90" "4594" "0" "4594" "0" "c.4594G>A" "r.(?)" "p.(Asp1532Asn)" ""
"0000987129" "00001847" "90" "5077" "0" "5077" "0" "c.5077G>A" "r.(?)" "p.(Val1693Ile)" ""
"0000987130" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" ""
"0000987131" "00001847" "90" "1957" "0" "1957" "0" "c.1957C>T" "r.(?)" "p.(Arg653Cys)" ""
"0000987132" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.spl" "p.Leu257Valfs*17" ""
"0000987133" "00001847" "90" "1015" "0" "1015" "0" "c.1015T>G" "r.(?)" "p.(Trp339Gly)" ""
"0000987134" "00001847" "90" "4519" "0" "4519" "0" "c.4519G>A" "r.(?)" "p.(Gly1507Arg)" ""
"0000987135" "00001847" "90" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" ""
"0000987136" "00001847" "30" "1610" "0" "1610" "0" "c.1610G>A" "r.(?)" "p.(Arg537His)" ""
"0000987137" "00001847" "90" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" ""
"0000987138" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000987139" "00001847" "30" "1610" "0" "1610" "0" "c.1610G>A" "r.(?)" "p.(Arg537His)" ""
"0000987140" "00001847" "90" "6229" "0" "6229" "0" "c.6229C>T" "r.(?)" "p.(Arg2077Trp)" ""
"0000987141" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" ""
"0000987142" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" ""
"0000987143" "00001847" "90" "4234" "0" "4234" "0" "c.4234C>T" "r.(?)" "p.(Gln1412Ter)" ""
"0000987144" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" ""
"0000987145" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000987146" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" ""
"0000987147" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000987148" "00001847" "90" "982" "0" "982" "0" "c.982G>T" "r.(?)" "p.(Glu328Ter)" ""
"0000987153" "00001847" "50" "769" "-784" "769" "-784" "c.769-784C>T" "r.spl" "p.[=,Leu257Aspfs*3]" ""
"0000987155" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000987158" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" ""
"0000987159" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" ""
"0000987162" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000987165" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000987166" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000987168" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000987171" "00001847" "50" "769" "-784" "769" "-784" "c.769-784C>T" "r.spl" "p.[=,Leu257Aspfs*3]" ""
"0000987174" "00001847" "70" "4253" "43" "4253" "43" "c.4253+43G>A" "r.spl" "p.[=,Ile1377Hisfs*3]" ""
"0000987175" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000987176" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" ""
"0000987178" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000987179" "00001847" "90" "5018" "2" "5018" "2" "c.5018+2T>A" "r.spl" "p.?" ""
"0000987180" "00001847" "90" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" ""
"0000987181" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000987182" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000987183" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000987184" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" ""
"0000987186" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000987187" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000987188" "00001847" "50" "570" "1798" "570" "1798" "c.570+1798A>G" "r.spl" "p.Phe191Leufs*6" ""
"0000987189" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" ""
"0000987191" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.[=,Glu1863Leufs*33]" ""
"0000987192" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Arg212Cys)" ""
"0000987193" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" ""
"0000987194" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000987197" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000987198" "00001847" "70" "4253" "43" "4253" "43" "c.4253+43G>A" "r.spl" "p.[=,Ile1377Hisfs*3]" ""
"0000987201" "00001847" "90" "5312" "1" "5312" "1" "c.5312+1G>A" "r.spl" "p.?" ""
"0000987202" "00001847" "90" "3259" "0" "3259" "0" "c.3259G>A" "r.(?)" "p.(Glu1087Lys)" ""
"0000987203" "00001847" "50" "769" "-784" "769" "-784" "c.769-784C>T" "r.spl" "p.[=,Leu257Aspfs*3]" ""
"0000987204" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000987205" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000987207" "00001847" "90" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" ""
"0000987208" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000987209" "00001847" "70" "686" "0" "686" "0" "c.686T>C" "r.(?)" "p.(Leu229Pro)" ""
"0000987210" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000987211" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000987212" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000987213" "00001847" "90" "1648" "0" "1648" "0" "c.1648G>A" "r.(?)" "p.(Gly550Arg)" ""
"0000987215" "00001847" "90" "5018" "2" "5018" "2" "c.5018+2T>C" "r.spl" "p.?" ""
"0000987216" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.(Gly863Ala)" ""
"0000987217" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000987220" "00001847" "70" "5056" "0" "5056" "0" "c.5056G>A" "r.(?)" "p.(Val1686Met)" ""
"0000987221" "00001847" "90" "4457" "0" "4457" "0" "c.4457C>T" "r.(?)" "p.(Pro1486Leu)" ""
"0000987222" "00001847" "50" "769" "-784" "769" "-784" "c.769-784C>T" "r.spl" "p.[=,Leu257Aspfs*3]" ""
"0000987223" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" ""
"0000987224" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000987225" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" ""
"0000987227" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000987228" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.[=,Glu1863Leufs*33]" ""
"0000987230" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" ""
"0000987231" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" ""
"0000987233" "00001847" "90" "4234" "0" "4234" "0" "c.4234C>T" "r.(?)" "p.(Gln1412Ter)" ""
"0000987234" "00001847" "90" "2971" "0" "2971" "0" "c.2971G>C" "r.(?)" "p.(Gly991Arg)" ""
"0000987236" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000987237" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000987239" "00001847" "90" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" ""
"0000987240" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.spl" "p.[Gly863Ala,Gly863del]" ""
"0000987242" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000987244" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000987248" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000987250" "00001847" "50" "769" "-784" "769" "-784" "c.769-784C>T" "r.spl" "p.[=,Leu257Aspfs*3]" ""
"0000987251" "00001847" "50" "769" "-784" "769" "-784" "c.769-784C>T" "r.spl" "p.[=,Leu257Aspfs*3]" ""
"0000987252" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000987253" "00001847" "70" "4253" "43" "4253" "43" "c.4253+43G>A" "r.spl" "p.[=,Ile1377Hisfs*3]" ""
"0000987254" "00001847" "90" "4457" "0" "4457" "0" "c.4457C>T" "r.(?)" "p.(Pro1486Leu)" ""
"0000987256" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.[=,Glu1863Leufs*33]" ""
"0000987259" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000987260" "00001847" "70" "1622" "0" "1622" "0" "c.1622T>C" "r.(?)" "p.(Leu541Pro)" ""
"0000987261" "00001847" "90" "4139" "0" "4139" "0" "c.4139C>T" "r.(?)" "p.(Pro1380Leu)" ""
"0000987262" "00001847" "90" "2888" "0" "2888" "0" "c.2888del" "r.(?)" "p.(Gly963AlafsTer14)" ""
"0000987263" "00001847" "70" "560" "0" "560" "0" "c.560G>A" "r.(?)" "p.(Arg187His)" ""
"0000987264" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000987265" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000987266" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000987267" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" ""
"0000987268" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" ""
"0000987269" "00001847" "70" "4253" "43" "4253" "43" "c.4253+43G>A" "r.spl" "p.[=,Ile1377Hisfs*3]" ""
"0000987270" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000987271" "00001847" "90" "2971" "0" "2971" "0" "c.2971G>C" "r.(?)" "p.(Gly991Arg)" ""
"0000987272" "00001847" "70" "4253" "43" "4253" "43" "c.4253+43G>A" "r.spl" "p.[=,Ile1377Hisfs*3]" ""
"0000987273" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.spl" "p.Leu257Valfs*17" ""
"0000987274" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.[=,Glu1863Leufs*33]" ""
"0000987275" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000987279" "00001847" "90" "2791" "0" "2791" "0" "c.2791G>A" "r.(?)" "p.(Val931Met)" ""
"0000987284" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000987285" "00001847" "50" "3292" "0" "3292" "0" "c.3292C>T" "r.(?)" "p.(Arg1098Cys)" ""
"0000987286" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0000987287" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000987289" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000987291" "00001847" "70" "4253" "43" "4253" "43" "c.4253+43G>A" "r.spl" "p.[=,Ile1377Hisfs*3]" ""
"0000987293" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.spl" "p.Leu257Valfs*17" ""
"0000987294" "00001847" "90" "71" "0" "71" "0" "c.71G>A" "r.(?)" "p.(Arg24His)" ""
"0000987295" "00001847" "70" "2588" "0" "2588" "0" "c.2588G>C" "r.(?)" "p.(Gly863Ala)" ""
"0000987296" "00001847" "70" "2243" "0" "2243" "0" "c.2243delinsTT" "r.(?)" "p.(Cys748PhefsTer18)" ""
"0000987297" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000987298" "00001847" "70" "4253" "4" "4253" "4" "c.4253+4C>T" "r.spl" "p.Ile1377Hisfs*3" ""
"0000987344" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000987345" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000987346" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000987347" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000987348" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000987349" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000987350" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000987351" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000987352" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000987353" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000987354" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000987355" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000987356" "00001847" "90" "4537" "0" "4537" "0" "c.4537dup" "r.(?)" "p.(Gln1513ProfsTer42)" ""
"0000987357" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000987358" "00001847" "50" "3289" "0" "3289" "0" "c.3289A>T" "r.(?)" "p.(Arg1097Ter)" ""
"0000987359" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000987360" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000987361" "00001847" "30" "6148" "0" "6148" "0" "c.6148G>C" "r.(?)" "p.(Val2050Leu)" ""
"0000987362" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000987363" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000987364" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(?)" "p.(Ala1038Val)" ""
"0000987365" "00001847" "70" "4539" "2064" "4539" "2064" "c.4539+2064C>T" "r.spl" "p.[=,Arg1514Leufs*36]" ""
"0000987366" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000987367" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000987368" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000987369" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000987370" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000987371" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000987372" "00001847" "90" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071CysfsTer14)" ""
"0000987373" "00001847" "70" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" ""
"0000987374" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000987375" "00001847" "50" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0000987550" "00001847" "90" "52" "0" "52" "0" "c.52C>T" "r.(52c>u)" "p.(Arg18Trp)" ""
"0000987551" "00001847" "90" "67" "-1" "67" "-1" "c.67-1dup" "r.spl?" "p.?" ""
"0000987552" "00001847" "90" "179" "0" "179" "0" "c.179C>T" "r.(179c>u)" "p.(Ala60Val)" ""
"0000987553" "00001847" "90" "265" "0" "265" "0" "c.265G>T" "r.(265g>u)" "p.(Glu89Ter)" ""
"0000987554" "00001847" "90" "287" "0" "287" "0" "c.287A>T" "r.(287a>u)" "p.(Asn96Ile)" ""
"0000987555" "00001847" "70" "438" "0" "438" "0" "c.438del" "r.(438del)" "p.(Ile146MetfsTer8)" ""
"0000987556" "00001847" "90" "488" "0" "491" "0" "c.488_491del" "r.(488_491del)" "p.(Leu163HisfsTer18)" ""
"0000987558" "00001847" "90" "634" "0" "634" "0" "c.634C>T" "r.(634c>u)" "p.(Arg212Cys)" ""
"0000987560" "00001847" "90" "735" "0" "735" "0" "c.735T>G" "r.(735u>g)" "p.(Tyr245Ter)" "6"
"0000987561" "00001847" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(1222c>u)" "p.(Arg408Ter)" "9"
"0000987562" "00001847" "90" "1574" "0" "1574" "0" "c.1574T>C" "r.(1574u>c)" "p.(Phe525Ser)" ""
"0000987577" "00001847" "70" "1648" "0" "1648" "0" "c.1648G>A" "r.(1648gA" "r.(1766g>a)" "p.(Trp589Ter)" "13"
"0000987579" "00001847" "70" "1798" "0" "1798" "0" "c.1798G>T" "r.(1798g>u)" "p.(Asp600Tyr)" "13"
"0000987581" "00001847" "90" "1819" "0" "1819" "0" "c.1819G>C" "r.(1819g>c)" "p.(Gly607Arg)" "13"
"0000987583" "00001847" "90" "1937" "1" "1937" "1" "c.1937+1G>A" "r.spl" "p.?" "13i"
"0000987584" "00001847" "70" "2023" "0" "2023" "0" "c.2023G>A" "r.(2023g>a)" "p.(Val675Ile)" "14"
"0000987585" "00001847" "90" "2041" "0" "2041" "0" "c.2041C>T" "r.(2041cT" "r.(2267c>u)" "p.(Ser756Phe)" "15"
"0000987587" "00001847" "90" "2297" "0" "2299" "0" "c.2297_2299del" "r.(?)" "p.(Gly766del)" "15"
"0000987588" "00001847" "70" "2570" "0" "2570" "0" "c.2570T>C" "r.(2570u>c)" "p.(Leu857Pro)" "16"
"0000987589" "00001847" "90" "2588" "0" "2588" "0" "c.2588G>C" "r.(2588g>c)" "p.(Gly863Ala)" "17"
"0000987590" "00001847" "90" "2888" "0" "2888" "0" "c.2888del" "r.(?)" "p.(Gly963AlafsTer14)" "19"
"0000987591" "00001847" "70" "2905" "0" "2905" "0" "c.2905A>G" "r.(2905a>g)" "p.(Lys969Glu)" "19"
"0000987592" "00001847" "70" "3056" "0" "3056" "0" "c.3056C>T" "r.(3056c>u)" "p.(Thr1019Met)" "21"
"0000987593" "00001847" "90" "3113" "0" "3113" "0" "c.3113C>T" "r.(3113c>u)" "p.(Ala1038Val)" "21"
"0000987594" "00001847" "70" "3210" "0" "3211" "0" "c.3210_3211dup" "r.(?)" "p.(Ser1071CysfsTer14)" "22"
"0000987595" "00001847" "70" "3292" "0" "3292" "0" "c.3292C>T" "r.(3292c>u)" "p.(Arg1098Cys)" "22"
"0000987596" "00001847" "90" "3308" "0" "3308" "0" "c.3308T>G" "r.(3308u>g)" "p.(Leu1103Arg)" "22"
"0000987597" "00001847" "90" "3322" "0" "3322" "0" "c.3322C>T" "r.(3322c>u)" "p.(Arg1108Cys)" "22"
"0000987600" "00001847" "70" "3323" "0" "3323" "0" "c.3323G>T" "r.(3323g>u)" "p.(Arg1108Leu)" "22"
"0000987601" "00001847" "70" "3352" "0" "3352" "0" "c.3352C>T" "r.(3352c>u)" "p.(His1118Tyr)" "23"
"0000987602" "00001847" "70" "3602" "0" "3602" "0" "c.3602T>G" "r.(3602u>g)" "p.(Leu1201Arg)" "24"
"0000987603" "00001847" "70" "4070" "0" "4070" "0" "c.4070C>A" "r.(4070c>a)" "p.(Ala1357Glu)" "27"
"0000987604" "00001847" "70" "4139" "0" "4139" "0" "c.4139C>T" "r.(4139c>u)" "p.(Pro1380Leu)" "28"
"0000987605" "00001847" "70" "4222" "0" "4222" "0" "c.4222T>C" "r.(4222u>c)" "p.(Trp1408Arg)" "28"
"0000987606" "00001847" "70" "4253" "4" "4253" "4" "c.4253+4C>T" "r.spl?" "p.?" "28i"
"0000987607" "00001847" "90" "4436" "0" "4436" "0" "c.4436G>A" "r.(4436g>a)" "p.(Trp1479Ter)" "30"
"0000987608" "00001847" "70" "4457" "0" "4457" "0" "c.4457C>T" "r.(4457c>u)" "p.(Pro1486Leu)" "30"
"0000987609" "00001847" "70" "4519" "0" "4519" "0" "c.4519G>A" "r.(4519g>a)" "p.(Gly1507Arg)" "30"
"0000987610" "00001847" "90" "4558" "0" "4558" "0" "c.4558G>C" "r.(4558g>c)" "p.(Glu1520Gln)" "31"
"0000987611" "00001847" "90" "4577" "0" "4577" "0" "c.4577C>T" "r.(4577c>u)" "p.(Thr1526Met)" "31"
"0000987612" "00001847" "70" "4793" "0" "4793" "0" "c.4793C>A" "r.(4793c>a)" "p.(Ala1598Asp)" "34"
"0000987613" "00001847" "90" "4849" "-1" "4849" "-1" "c.4849-1G>A" "r.spl" "p.?" "34i"
"0000987614" "00001847" "70" "4852" "0" "4852" "0" "c.4852T>C" "r.(4852u>c)" "p.(Trp1618Arg)" "35"
"0000987615" "00001847" "70" "4873" "0" "4873" "0" "c.4873C>T" "r.(4873c>u)" "p.(His1625Tyr)" "35"
"0000987616" "00001847" "90" "4880" "0" "4880" "0" "c.4880del" "r.(?)" "p.(Leu1627ArgfsTer35)" "35"
"0000987617" "00001847" "70" "4918" "0" "4918" "0" "c.4918C>T" "r.(4918c>u)" "p.(Arg1640Trp)" "35"
"0000987618" "00001847" "70" "4978" "0" "4978" "0" "c.4978C>T" "r.(4978c>u)" "p.(Pro1660Ser)" "35"
"0000987619" "00001847" "70" "5113" "0" "5113" "0" "c.5113C>T" "r.(5113c>u)" "p.(Arg1705Trp)" "36"
"0000987620" "00001847" "90" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.spl" "p.?" "36i"
"0000987621" "00001847" "70" "5333" "0" "5333" "0" "c.5333T>A" "r.(5333u>a)" "p.(Met1778Lys)" "38"
"0000987622" "00001847" "70" "5413" "0" "5413" "0" "c.5413A>G" "r.(5413a>g)" "p.(Asn1805Asp)" "38"
"0000987623" "00001847" "70" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl?" "p.?" "38i"
"0000987624" "00001847" "70" "5498" "0" "5498" "0" "c.5498T>G" "r.(5498u>g)" "p.(Leu1833Arg)" "39"
"0000987625" "00001847" "50" "5512" "0" "5512" "0" "c.5512C>G" "r.(5512c>g)" "p.(His1838Asp)" "39"
"0000987626" "00001847" "70" "5527" "0" "5527" "0" "c.5527C>T" "r.(5527c>u)" "p.(Arg1843Trp)" "39"
"0000987627" "00001847" "70" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl" "p.?" "40i"
"0000987628" "00001847" "70" "5824" "0" "5824" "0" "c.5824G>C" "r.(5824g>c)" "p.(Glu1942Gln)" "41"
"0000987629" "00001847" "50" "5843" "0" "5843" "0" "c.5843C>T" "r.(5843c>u)" "p.(Pro1948Leu)" "42"
"0000987630" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(5882g>a)" "p.(Gly1961Glu)" "42"
"0000987631" "00001847" "70" "5951" "0" "5951" "0" "c.5951T>G" "r.(5951u>g)" "p.(Met1984Arg)" "43"
"0000987632" "00001847" "70" "6089" "0" "6089" "0" "c.6089G>A" "r.(6089g>a)" "p.(Arg2030Gln)" "44"
"0000987633" "00001847" "50" "6094" "0" "6094" "0" "c.6094C>T" "r.(6094c>u)" "p.(His2032Tyr)" "44"
"0000987634" "00001847" "70" "6119" "0" "6119" "0" "c.6119G>A" "r.(6119g>a)" "p.(Arg2040Gln)" "44"
"0000987635" "00001847" "70" "6220" "0" "6220" "0" "c.6220G>T" "r.(6220g>u)" "p.(Gly2074Cys)" "45"
"0000987636" "00001847" "70" "6306" "0" "6306" "0" "c.6306C>A" "r.(6306c>a)" "p.(Asp2102Glu)" "46"
"0000987637" "00001847" "70" "6320" "0" "6320" "0" "c.6320G>A" "r.(6320g>a)" "p.(Arg2107His)" "46"
"0000987638" "00001847" "70" "6339" "0" "6339" "0" "c.6339C>G" "r.(6339c>g)" "p.(Ile2113Met)" "46"
"0000987639" "00001847" "90" "6394" "0" "6394" "0" "c.6394G>T" "r.(6394g>u)" "p.(Glu2132Ter)" "47"
"0000987640" "00001847" "70" "6397" "0" "6397" "0" "c.6397T>C" "r.(6397uZc)" "p.(Cys2133Arg)" "47"
"0000987641" "00001847" "70" "6686" "0" "6686" "0" "c.6686T>C" "r.(6686u>c)" "p.(Leu2229Pro)" "48"
"0000987642" "00001847" "70" "6718" "0" "6718" "0" "c.6718A>G" "r.(6718a>g)" "p.(Thr2240Ala)" "48"
"0000987780" "00001847" "90" "2453" "0" "2453" "0" "c.2453G>A" "r.(?)" "p.(Gly818Glu)" "16"
"0000991485" "00001847" "50" "6694" "0" "6694" "0" "c.6694G>A" "r.(?)" "p.(Glu2232Lys)" ""
"0000991486" "00001847" "90" "6286" "0" "6286" "0" "c.6286G>A" "r.(?)" "p.(Glu2096Lys)" ""
"0000991487" "00001847" "90" "5917" "0" "5917" "0" "c.5917del" "r.(?)" "p.(Val1973Ter)" ""
"0000991488" "00001847" "10" "4253" "13" "4253" "13" "c.4253+13G>A" "r.(=)" "p.(=)" ""
"0000991489" "00001847" "30" "3626" "0" "3626" "0" "c.3626T>C" "r.(?)" "p.(Met1209Thr)" ""
"0000991490" "00001847" "30" "3329" "-11" "3329" "-11" "c.3329-11C>T" "r.(=)" "p.(=)" ""
"0000991491" "00001847" "90" "1995" "0" "1995" "0" "c.1995C>A" "r.(?)" "p.(Tyr665*)" ""
"0000991492" "00001847" "30" "1654" "0" "1654" "0" "c.1654G>A" "r.(?)" "p.(Val552Ile)" ""
"0000991493" "00001847" "50" "667" "0" "667" "0" "c.667A>C" "r.(?)" "p.(Lys223Gln)" ""
"0001008599" "00001847" "10" "141" "0" "141" "0" "c.141G>A" "r.(?)" "p.(Pro47=)" "2"
"0001008600" "00001847" "50" "401" "0" "402" "0" "c.401_402insN[24]" "r.(?)" "p.(?)" "4"
"0001008601" "00001847" "50" "402" "0" "403" "0" "c.402_403insN[24]" "r.(?)" "p.(?)" "4"
"0001008602" "00001847" "70" "1281" "0" "1282" "0" "c.1281_1282insN[17]" "r.(?)" "p.(Val428LysfsTer13)" "10"
"0001008603" "00001847" "50" "1357" "-1" "1554" "1" "c.(1356+1_1357-1)_(1554+1_1555-1)del" "r.?" "p.(Asp453_Glu518del)" "10i_11i"
"0001008604" "00001847" "70" "1555" "-1" "1937" "1" "c.1555-1_1937+1del" "r.spl?" "p.?" "11i_13i"
"0001008605" "00001847" "90" "1555" "-3491" "1938" "-83" "c.1555-3491_1938-83delins1734_1761-107inv" "r.?" "p.?" "11i_13i"
"0001008606" "00001847" "70" "1555" "-2428" "2161" "-101" "c.1555-2428_2161-101delins[2160+7_2160+230inv;ATGAATG]" "r.?" "p.?" "11i_14i"
"0001008607" "00001847" "30" "2383" "-13" "2383" "-13" "c.2383-13C>T" "r.spl?" "p.?" "15i"
"0001008608" "00001847" "70" "2918" "775" "3328" "618" "c.2918+775_3328+618del" "r.?" "p.?" "19i_22i"
"0001008609" "00001847" "70" "-1" "0" "3525" "0" "c.(?_-1)_3525del" "r.0?" "p.0?" "_1_24"
"0001008610" "00001847" "50" "4016" "0" "4017" "0" "c.4016_4017insN[24]" "r.(?)" "p.(?)" "27"
"0001008611" "00001847" "50" "4017" "0" "4018" "0" "c.4017_4018insN[24]" "r.(?)" "p.(?)" "27"
"0001008612" "00001847" "50" "4021" "0" "4022" "0" "c.4021_4022insN[24]" "r.(?)" "p.(?)" "27"
"0001008613" "00001847" "50" "5714" "5" "5714" "5" "c.5714+5G>T" "r.spl" "p.?" "40i"
"0001008614" "00001847" "70" "" "0" "" "0" "c.-104_5714+250{0}" "r.0?" "p.0?" "1_40i"
"0001008615" "00001847" "70" "" "0" "" "0" "c.3525_*400{0}" "r.?" "p.?" "24_50"
"0001008616" "00001847" "70" "769" "-1" "858" "1" "c.(768+1_769-1)_(858+1_859-1)del" "r.?" "p.?" "6i_7i"
"0001008617" "00001847" "70" "1555" "-1" "1937" "1" "c.(1554+1_1555-1)_(1937+1_1938-1)del" "r.?" "p.?" "11i_13i"
"0001008618" "00001847" "70" "2383" "-1" "2587" "1" "c.(2382+1_2383-1)_(2587+1_2588-1)del" "r.?" "p.?" "15i_16i"
"0001008619" "00001847" "90" "1938" "0" "1938" "0" "c.(1268_1938)_(1938_2588)del" "r.?" "p.?" "10i_16i"
"0001008620" "00001847" "70" "2161" "-1" "2653" "1" "c.(2160+1_2161-1)_(2653+1_2654-1)del" "r.?" "p.?" "14i_17i"
"0001008621" "00001847" "70" "2654" "-1" "2918" "1" "c.(2653+1_2654-1)_(2918+1_2919-1)del" "r.?" "p.?" "17i_19i"
"0001008622" "00001847" "50" "4635" "-1" "5714" "1" "c.(4634+1_4635-1)_(5714+1_5715-1)dup" "r.?" "p.?" "31i_40i"
"0001008623" "00001847" "50" "5585" "-1" "5835" "1" "c.(5584+1_5585-1)_(5835+1_5836-1)dup" "r.?" "p.?" "39i_41i"
"0001008624" "00001847" "70" "6148" "-1" "6479" "1" "c.(6147+1_6148-1)_(6479+1_6480-1)del" "r.?" "p.?" "44i_47i"
"0001008625" "00001847" "50" "" "0" "" "0" "c.(2653+1_2654-1)_(*1_?)del" "r.?" "p.?" "17i_50"
"0001008626" "00001847" "70" "" "0" "" "0" "c.(6729+1_6730-1)_(*1_?)del" "r.?" "p.?" "48i_50_"
"0001008627" "00001847" "50" "" "0" "" "0" "c.(6816+1_6817-1)_(*1_?)del" "r.?" "p.?" "49i_50_"
"0001008628" "00001847" "50" "6669" "0" "6670" "0" "c.6669_6670insN[28]" "r.?" "p.?" "48"
"0001008629" "00001847" "70" "" "0" "" "0" "c.5585-164_*400{0}" "r.?" "p.?" "39i_50_"
"0001008630" "00001847" "30" "-92" "0" "-92" "0" "c.-92C>T" "r.(?)" "p.(?)" "1"
"0001008631" "00001847" "30" "-14" "0" "-14" "0" "c.-14G>A" "r.(?)" "p.(?)" "1"
"0001008632" "00001847" "50" "3" "0" "3" "0" "c.3G>T" "r.(?)" "p.(Met1?)" "1"
"0001008633" "00001847" "90" "16" "0" "16" "0" "c.16C>T" "r.(?)" "p.(Gln6Ter)" "1"
"0001008634" "00001847" "50" "20" "0" "20" "0" "c.20T>A" "r.(?)" "p.(Ile7Lys)" "1"
"0001008635" "00001847" "90" "21" "0" "21" "0" "c.21dup" "r.(?)" "p.(Gln8ThrfsTer46)" "1"
"0001008636" "00001847" "90" "29" "0" "29" "0" "c.29dup" "r.(?)" "p.(Leu10PhefsTer44)" "1"
"0001008637" "00001847" "30" "33" "0" "33" "0" "c.33C>T" "r.(?)" "p.(Leu11=)" "1"
"0001008638" "00001847" "90" "36" "0" "36" "0" "c.36G>A" "r.(?)" "p.(Trp12Ter)" "1"
"0001008639" "00001847" "50" "37" "0" "37" "0" "c.37A>G" "r.(?)" "p.(Lys13Glu)" "1"
"0001008640" "00001847" "70" "42" "0" "42" "0" "c.42C>A" "r.(?)" "p.(Asn14Lys)" "1"
"0001008641" "00001847" "90" "46" "0" "47" "0" "c.46_47del" "r.(?)" "p.(Thr16ProfsTer37)" "1"
"0001008642" "00001847" "90" "42" "0" "48" "0" "c.42_48delinsAG" "r.(?)" "p.(Asn14LysfsTer38)" "1"
"0001008643" "00001847" "70" "53" "0" "53" "0" "c.53G>A" "r.(?)" "p.(Arg18Gln)" "1"
"0001008644" "00001847" "90" "53" "0" "53" "0" "c.53G>C" "r.(?)" "p.(Arg18Pro)" "1"
"0001008645" "00001847" "90" "66" "0" "66" "0" "c.66G>A" "r.spl?" "p.(Lys22=)" "1"
"0001008646" "00001847" "50" "66" "0" "66" "0" "c.66G>T" "r.spl?" "p.(Lys22Asn,?)" "1"
"0001008647" "00001847" "30" "66" "2044" "66" "2044" "c.66+2044G>A" "r.spl?" "p.?" "1i"
"0001008648" "00001847" "50" "67" "-2023" "67" "-2023" "c.67-2023T>G" "r.[66_67ins67-2266_67-2024,=]" "p.[IIe23IIefsTer30,=]" "1i"
"0001008649" "00001847" "50" "66" "520" "67" "-389" "c.66+520_67-389dup" "r.(?)" "p.?" "1i"
"0001008650" "00001847" "50" "67" "-16" "67" "-16" "c.67-16T>A" "r.spl?" "p.?" "1i"
"0001008651" "00001847" "70" "67" "-2" "67" "-2" "c.67-2A>G" "r.spl" "p.?" "1i"
"0001008652" "00001847" "90" "67" "-1" "67" "-1" "c.67-1del" "r.spl" "p.?" "1i"
"0001008653" "00001847" "70" "67" "-1" "67" "-1" "c.67-1G>C" "r.spl" "p.?" "1i"
"0001008654" "00001847" "50" "69" "0" "69" "0" "c.69T>G" "r.spl?" "p.(Ile23Met)" "2"
"0001008655" "00001847" "50" "85" "0" "85" "0" "c.85C>T" "r.(?)" "p.(Leu29Phe)" "2"
"0001008656" "00001847" "50" "86" "0" "86" "0" "c.86T>G" "r.(?)" "p.(Leu29Arg)" "2"
"0001008657" "00001847" "90" "92" "0" "92" "0" "c.92G>A" "r.(?)" "p.(Trp31Ter)" "2"
"0001008658" "00001847" "50" "94" "0" "94" "0" "c.94C>A" "r.(?)" "p.(Pro32Thr)" "2"
"0001008659" "00001847" "50" "95" "0" "95" "0" "c.95C>T" "r.(?)" "p.(Pro32Leu)" "2"
"0001008660" "00001847" "50" "140" "0" "140" "0" "c.140C>T" "r.(?)" "p.(Pro47Leu)" "2"
"0001008661" "00001847" "50" "156" "0" "156" "0" "c.156T>G" "r.(?)" "p.(His52Gln)" "2"
"0001008662" "00001847" "90" "157" "0" "157" "0" "c.157G>T" "r.(?)" "p.(Glu53Ter)" "2"
"0001008663" "00001847" "70" "160" "5" "160" "5" "c.160+5G>A" "r.(?)" "p.?" "2i"
"0001008664" "00001847" "70" "67" "-1845" "160" "345" "c.67-1845_160+345del" "r.(?)" "p.?" "1i_2i"
"0001008665" "00001847" "70" "67" "-140" "161" "-355" "c.67-140_161-355del" "r.(67_160del)" "p.(Ile23AlafsTer24)" "1i_2i"
"0001008666" "00001847" "50" "161" "-23" "161" "-23" "c.161-23T>A" "r.spl?" "p.?" "2i"
"0001008667" "00001847" "50" "161" "-23" "161" "-23" "c.161-23T>G" "r.[=,161_302del]" "p.[=,Cys54SerfsTer14]" "2i"
"0001008668" "00001847" "30" "161" "-5" "161" "-5" "c.161-5T>C" "r.(?)" "p.?" "2i"
"0001008669" "00001847" "50" "164" "0" "164" "0" "c.164A>C" "r.(?)" "p.(His55Pro)" "3"
"0001008670" "00001847" "70" "167" "0" "167" "0" "c.167T>G" "r.(?)" "p.(Phe56Cys)" "3"
"0001008671" "00001847" "50" "170" "0" "170" "0" "c.170C>G" "r.(?)" "p.(Pro57Arg)" "3"
"0001008672" "00001847" "90" "170" "0" "171" "0" "c.170_171insAA" "r.(?)" "p.(Asn58ThrfsTer21)" "3"
"0001008673" "00001847" "90" "179" "0" "179" "0" "c.179C>G" "r.(?)" "p.(Ala60Gly)" "3"
"0001008674" "00001847" "30" "180" "0" "180" "0" "c.180G>C" "r.(?)" "p.(Ala60=)" "3"
"0001008675" "00001847" "50" "182" "0" "182" "0" "c.182T>C" "r.(?)" "p.(Met61Thr)" "3"
"0001008676" "00001847" "70" "183" "0" "183" "0" "c.183G>C" "r.(?)" "p.(Met61Ile)" "3"
"0001008677" "00001847" "90" "184" "0" "184" "0" "c.184C>G" "r.(?)" "p.(Pro62Ala)" "3"
"0001008678" "00001847" "50" "185" "0" "185" "0" "c.185C>T" "r.(?)" "p.(Pro62Leu)" "3"
"0001008679" "00001847" "70" "187" "0" "187" "0" "c.187T>C" "r.(?)" "p.(Ser63Pro)" "3"
"0001008680" "00001847" "90" "216" "0" "216" "0" "c.216dup" "r.(?)" "p.(Ile73AspfsTer26)" "3"
"0001008681" "00001847" "50" "215" "0" "215" "0" "c.215G>T" "r.(?)" "p.(Gly72Val)" "3"
"0001008682" "00001847" "50" "217" "0" "217" "0" "c.217A>T" "r.(?)" "p.(Ile73Phe)" "3"
"0001008683" "00001847" "50" "223" "0" "223" "0" "c.223T>C" "r.(?)" "p.(Cys75Arg)" "3"
"0001008684" "00001847" "50" "224" "0" "224" "0" "c.224G>A" "r.(?)" "p.(Cys75Tyr)" "3"
"0001008685" "00001847" "50" "227" "0" "227" "0" "c.227A>C" "r.(?)" "p.(Asn76Thr)" "3"
"0001008686" "00001847" "50" "233" "0" "234" "0" "c.233_234insAAGAA" "r.(?)" "p.(Asn78LysfsTer39)" "3"
"0001008687" "00001847" "90" "231" "0" "232" "0" "c.231_232insGAAAA" "r.(?)" "p.(Asn78GlufsTer39)" "3"
"0001008688" "00001847" "30" "237" "0" "237" "0" "c.237T>C" "r.(?)" "p.(Asn79=)" "3"
"0001008689" "00001847" "50" "242" "0" "242" "0" "c.242G>C" "r.(?)" "p.(Cys81Ser)" "3"
"0001008690" "00001847" "50" "262" "0" "262" "0" "c.262G>A" "r.(?)" "p.(Gly88Arg)" "3"
"0001008691" "00001847" "70" "283" "0" "283" "0" "c.283T>C" "r.(?)" "p.(Ser95Pro)" "3"
"0001008692" "00001847" "70" "286" "0" "286" "0" "c.286A>T" "r.(?)" "p.(Asn96Tyr)" "3"
"0001008693" "00001847" "70" "290" "0" "290" "0" "c.290A>G" "r.(?)" "p.(Tyr97Cys)" "3"
"0001008694" "00001847" "50" "293" "0" "293" "0" "c.293A>G" "r.(?)" "p.(Asn98Ser)" "3"
"0001008695" "00001847" "50" "294" "0" "294" "0" "c.294C>G" "r.(?)" "p.(Asn98Lys)" "3"
"0001008696" "00001847" "30" "302" "3" "302" "3" "c.302+3A>G" "r.spl?" "p.?" "3i"
"0001008697" "00001847" "30" "302" "6" "302" "6" "c.302+6T>C" "r.(?)" "p.?" "3i"
"0001008698" "00001847" "30" "302" "26" "302" "26" "c.302+26A>G" "r.(?)" "p.?" "3i"
"0001008699" "00001847" "50" "302" "68" "302" "68" "c.302+68C>T" "r.(?)" "p.?" "3i"
"0001008700" "00001847" "70" "303" "-3" "303" "-3" "c.303-3C>G" "r.[161_302delins303-2_303-1,302_303ins302-2_302-1]" "p.[Cys54Ter,Leu102AlafsTer14]" "3i"
"0001008701" "00001847" "90" "303" "-2" "303" "-2" "c.303-2A>G" "r.spl" "p.?" "3i"
"0001008702" "00001847" "30" "317" "0" "317" "0" "c.317A>T" "r.(?)" "p.(Tyr106Phe)" "4"
"0001008703" "00001847" "30" "319" "0" "319" "0" "c.319C>A" "r.(=)" "p.(Arg107=)" "4"
"0001008704" "00001847" "50" "341" "0" "341" "0" "c.341T>C" "r.(?)" "p.(Met114Thr)" "4"
"0001008705" "00001847" "90" "346" "0" "347" "0" "c.346_347del" "r.(?)" "p.(Ala116ThrfsTer44)" "4"
"0001008706" "00001847" "50" "370" "0" "370" "0" "c.370C>T" "r.(?)" "p.(Arg124Cys)" "4"
"0001008707" "00001847" "50" "371" "0" "371" "0" "c.371G>A" "r.(?)" "p.(Arg124His)" "4"
"0001008708" "00001847" "90" "378" "0" "378" "0" "c.378G>A" "r.(?)" "p.(Trp126Ter)" "4"
"0001008709" "00001847" "70" "343" "0" "380" "0" "c.343_380delinsGGACA" "r.(?)" "p.(Asn115_Thr127delinsGlyGln)" "4"
"0001008710" "00001847" "30" "387" "0" "387" "0" "c.387A>G" "r.(?)" "p.(Leu129=)" "4"
"0001008711" "00001847" "50" "388" "0" "388" "0" "c.388C>A" "r.(?)" "p.(His130Asn)" "4"
"0001008712" "00001847" "90" "393" "0" "393" "0" "c.393del" "r.(?)" "p.(Leu132CysfsTer22)" "4"
"0001008713" "00001847" "30" "423" "0" "423" "0" "c.423T>A" "r.(?)" "p.(Thr141=)" "4"
"0001008714" "00001847" "90" "428" "0" "428" "0" "c.428del" "r.(?)" "p.(Pro143ArgfsTer11)" "4"
"0001008715" "00001847" "70" "442" "1" "442" "1" "c.442+1G>A" "r.(?)" "p.?" "4i"
"0001008716" "00001847" "30" "443" "-5" "443" "-5" "c.443-5T>C" "r.(?)" "p.?" "4i"
"0001008717" "00001847" "50" "443" "-5" "443" "-2" "c.443-5_443-2del" "r.(?)" "p.?" "4i"
"0001008718" "00001847" "90" "443" "-2" "443" "-2" "c.443-2A>G" "r.(?)" "p.?" "4i"
"0001008719" "00001847" "90" "443" "-3" "443" "0" "c.443-3_443del" "r.spl?" "p.?" "4i_5"
"0001008720" "00001847" "50" "452" "0" "452" "0" "c.452T>C" "r.(?)" "p.(Ile151Thr)" "5"
"0001008721" "00001847" "50" "463" "0" "463" "0" "c.463G>A" "r.(?)" "p.(Asp155Asn)" "5"
"0001008722" "00001847" "50" "464" "0" "464" "0" "c.464A>T" "r.(?)" "p.(Asp155Val)" "5"
"0001008723" "00001847" "90" "470" "0" "470" "0" "c.470T>A" "r.(?)" "p.(Leu157Ter)" "5"
"0001008724" "00001847" "90" "488" "0" "491" "0" "c.488_491del" "r.(?)" "p.(Leu163HisfsTer18)" "5"
"0001008725" "00001847" "90" "505" "0" "505" "0" "c.505A>T" "r.(?)" "p.(Lys169Ter)" "5"
"0001008726" "00001847" "50" "509" "0" "509" "0" "c.509A>C" "r.(?)" "p.(Asn170Thr)" "5"
"0001008727" "00001847" "50" "511" "0" "511" "0" "c.511A>T" "r.(?)" "p.(Ile171Phe)" "5"
"0001008728" "00001847" "90" "517" "0" "517" "0" "c.517dup" "r.(?)" "p.(Leu173ProfsTer3)" "5"
"0001008729" "00001847" "90" "553" "0" "553" "0" "c.553C>T" "r.(?)" "p.(Gln185Ter)" "5"
"0001008730" "00001847" "30" "564" "0" "564" "0" "c.564A>C" "r.(?)" "p.(Pro188=)" "5"
"0001008731" "00001847" "70" "570" "1" "570" "1" "c.570+1G>C" "r.spl" "p.?" "5i"
"0001008732" "00001847" "70" "570" "2" "570" "2" "c.570+2T>G" "r.spl" "p.?" "5i"
"0001008733" "00001847" "90" "570" "1" "570" "8" "c.570+1_570+8del" "r.spl" "p.?" "5i"
"0001008734" "00001847" "70" "442" "799" "570" "541" "c.442+799_570+541del" "r.(?)" "p.?" "4i_5i"
"0001008735" "00001847" "70" "570" "1798" "570" "1798" "c.570+1798A>G" "r.570_571ins570+1733_570+1797" "p.Phe191LeufsTer6" "5i"
"0001008736" "00001847" "30" "570" "1815" "570" "1815" "c.570+1815G>C" "r.(?)" "p.?" "5i"
"0001008737" "00001847" "30" "571" "-5" "571" "-5" "c.571-5T>G" "r.(?)" "p.?" "5i"
"0001008738" "00001847" "90" "571" "-2" "575" "0" "c.571-2_575del" "r.spl?" "p.?" "5i_6"
"0001008739" "00001847" "50" "575" "0" "575" "0" "c.575C>T" "r.(?)" "p.(Ala192Val)" "6"
"0001008740" "00001847" "90" "571" "0" "580" "0" "c.571_580dup" "r.(?)" "p.(Gly194ValfsTer89)" "6"
"0001008741" "00001847" "50" "587" "0" "587" "0" "c.587C>T" "r.(?)" "p.(Pro196Leu)" "6"
"0001008742" "00001847" "50" "589" "0" "589" "0" "c.589G>C" "r.(?)" "p.(Asp197His)" "6"
"0001008743" "00001847" "30" "596" "0" "596" "0" "c.596C>T" "r.(?)" "p.(Ala199Val)" "6"
"0001008744" "00001847" "50" "610" "0" "610" "0" "c.610G>A" "r.(?)" "p.(Ala204Thr)" "6"
"0001008745" "00001847" "90" "607" "0" "611" "0" "c.607_611del" "r.(?)" "p.(Ile203LeufsTer75)" "6"
"0001008746" "00001847" "50" "611" "0" "611" "0" "c.611C>A" "r.(?)" "p.(Ala204Asp)" "6"
"0001008747" "00001847" "50" "613" "0" "613" "0" "c.613T>G" "r.(?)" "p.(Cys205Gly)" "6"
"0001008748" "00001847" "50" "614" "0" "614" "0" "c.614G>A" "r.(?)" "p.(Cys205Tyr)" "6"
"0001008749" "00001847" "50" "614" "0" "614" "0" "c.614G>T" "r.(?)" "p.(Cys205Phe)" "6"
"0001008750" "00001847" "30" "618" "0" "618" "0" "c.618C>T" "r.(?)" "p.(Ser206=)" "6"
"0001008751" "00001847" "50" "601" "0" "618" "0" "c.601_618dup" "r.(?)" "p.(Lys201_Ser206dup)" "6"
"0001008752" "00001847" "30" "619" "0" "619" "0" "c.619G>C" "r.(?)" "p.(Glu207Gln)" "6"
"0001008753" "00001847" "50" "629" "0" "629" "0" "c.629T>A" "r.(?)" "p.(Leu210Gln)" "6"
"0001008754" "00001847" "90" "639" "0" "639" "0" "c.639del" "r.(?)" "p.(Phe213LeufsTer28)" "6"
"0001008755" "00001847" "90" "652" "0" "652" "0" "c.652C>T" "r.(?)" "p.(Gln218Ter)" "6"
"0001008756" "00001847" "50" "661" "0" "661" "0" "c.661G>A" "r.(?)" "p.(Gly221Arg)" "6"
"0001008757" "00001847" "30" "672" "0" "672" "0" "c.672G>A" "r.(?)" "p.(Thr224=)" "6"
"0001008758" "00001847" "50" "673" "0" "673" "0" "c.673G>A" "r.(?)" "p.(Val225Met)" "6"
"0001008759" "00001847" "50" "676" "0" "676" "0" "c.676C>A" "r.(?)" "p.(Arg226Ser)" "6"
"0001008760" "00001847" "50" "676" "0" "676" "0" "c.676C>T" "r.(?)" "p.(Arg226Cys)" "6"
"0001008761" "00001847" "50" "677" "0" "677" "0" "c.677G>A" "r.(?)" "p.(Arg226His)" "6"
"0001008762" "00001847" "50" "677" "0" "677" "0" "c.677G>T" "r.(?)" "p.(Arg226Leu)" "6"
"0001008763" "00001847" "90" "686" "0" "686" "0" "c.686T>C" "r.(?)" "p.(Leu229Pro)" "6"
"0001008764" "00001847" "70" "688" "0" "688" "0" "c.688T>G" "r.(?)" "p.(Cys230Gly)" "6"
"0001008765" "00001847" "90" "690" "0" "690" "0" "c.690C>A" "r.(?)" "p.(Cys230Ter)" "6"
"0001008766" "00001847" "50" "694" "0" "694" "0" "c.694C>T" "r.(?)" "p.(Leu232Phe)" "6"
"0001008767" "00001847" "50" "701" "0" "702" "0" "c.701_702insATC" "r.(?)" "p.(Gln234_Gly235insSer)" "6"
"0001008768" "00001847" "50" "702" "0" "703" "0" "c.702_703insATC" "r.(?)" "p.(Gln234_Gly235insIle)" "6"
"0001008769" "00001847" "70" "710" "0" "710" "0" "c.710T>C" "r.(?)" "p.(Leu237Pro)" "6"
"0001008770" "00001847" "90" "712" "0" "712" "0" "c.712C>T" "r.(?)" "p.(Gln238Ter)" "6"
"0001008771" "00001847" "30" "714" "0" "714" "0" "c.714G>A" "r.(?)" "p.(Gln238=)" "6"
"0001008772" "00001847" "90" "716" "0" "716" "0" "c.716G>A" "r.(?)" "p.(Trp239Ter)" "6"
"0001008773" "00001847" "70" "719" "0" "719" "0" "c.719T>G" "r.(?)" "p.(Ile240Arg)" "6"
"0001008774" "00001847" "90" "727" "0" "728" "0" "c.727_728dup" "r.(?)" "p.(Tyr245CysfsTer18)" "6"
"0001008775" "00001847" "50" "733" "0" "733" "0" "c.733T>C" "r.(?)" "p.(Tyr245His)" "6"
"0001008776" "00001847" "50" "741" "0" "741" "0" "c.741C>A" "r.(?)" "p.(Asn247Lys)" "6"
"0001008777" "00001847" "90" "741" "0" "744" "0" "c.741_744del" "r.(?)" "p.(Asn247LysfsTer14)" "6"
"0001008778" "00001847" "50" "751" "0" "753" "0" "c.751_753del" "r.(?)" "p.(Phe251del)" "6"
"0001008779" "00001847" "90" "752" "0" "752" "0" "c.752del" "r.(?)" "p.(Phe251SerfsTer11)" "6"
"0001008780" "00001847" "50" "760" "0" "760" "0" "c.760T>C" "r.(?)" "p.(Phe254Leu)" "6"
"0001008781" "00001847" "50" "764" "0" "764" "0" "c.764G>A" "r.(?)" "p.(Arg255His)" "6"
"0001008782" "00001847" "50" "766" "0" "766" "0" "c.766G>T" "r.spl?" "p.(Val256Leu)" "6"
"0001008783" "00001847" "70" "768" "0" "768" "0" "c.768G>C" "r.spl?" "p.(Val256=)" "6"
"0001008784" "00001847" "50" "768" "0" "768" "0" "c.768G>H" "r.spl?" "p.(Val256=)" "6"
"0001008785" "00001847" "70" "768" "2" "768" "2" "c.768+2T>G" "r.spl" "p.?" "6i"
"0001008786" "00001847" "90" "760" "0" "768" "25" "c.760_768+25del" "r.(?)" "p.(Phe254_Val256del,?)" "6_6i"
"0001008787" "00001847" "90" "699" "0" "768" "341" "c.699_768+341del" "r.(?)" "p.(Gln234PhefsTer5)" "6_6i"
"0001008788" "00001847" "30" "768" "353" "768" "353" "c.768+353T>C" "r.(?)" "p.?" "6i"
"0001008789" "00001847" "30" "768" "358" "768" "358" "c.768+358C>T" "r.=" "p.(=)" "6i"
"0001008790" "00001847" "30" "768" "508" "768" "508" "c.768+508A>G" "r.(?)" "p.?" "6i"
"0001008791" "00001847" "30" "768" "538" "768" "538" "c.768+538C>G" "r.(?)" "p.?" "6i"
"0001008792" "00001847" "90" "443" "-1218" "768" "1440" "c.443-1218_768+1440del" "r.(?)" "p.?" "4i_6i"
"0001008793" "00001847" "70" "571" "-801" "768" "3062" "c.571-801_768+3062del" "r.(?)" "p.?" "5i_6i"
"0001008794" "00001847" "50" "67" "-975" "769" "-4582" "c.67-975_769-4582dup" "r.(?)" "p.?" "1i_6i"
"0001008795" "00001847" "50" "769" "-788" "769" "-788" "c.769-788A>T" "r.768_769ins769-778_769-617" "p.Leu257AspfsTer3" "6i"
"0001008796" "00001847" "30" "769" "-784" "769" "-784" "c.769-784C>T" "r.[=,768_769ins769-617_769-778]" "p.[=,Leu257AspfsTer3]" "6i"
"0001008797" "00001847" "30" "769" "-605" "769" "-605" "c.769-605T>C" "r.=" "p.(=)" "6i"
"0001008798" "00001847" "50" "769" "-3" "769" "-3" "c.769-3C>T" "r.(?)" "p.?" "6i"
"0001008799" "00001847" "70" "769" "-1" "769" "-1" "c.769-1G>A" "r.spl" "p.?" "6i"
"0001008800" "00001847" "50" "772" "0" "772" "0" "c.772C>T" "r.(?)" "p.(Pro258Ser)" "7"
"0001008801" "00001847" "50" "790" "0" "790" "0" "c.790C>T" "r.(?)" "p.(Arg264Cys)" "7"
"0001008802" "00001847" "50" "791" "0" "791" "0" "c.791G>A" "r.(?)" "p.(Arg264His)" "7"
"0001008803" "00001847" "50" "817" "0" "817" "0" "c.817T>C" "r.(?)" "p.(Trp273Arg)" "7"
"0001008804" "00001847" "30" "826" "0" "826" "0" "c.826A>G" "r.(?)" "p.(Ile276Val)" "7"
"0001008805" "00001847" "90" "832" "0" "832" "0" "c.832del" "r.(?)" "p.(Ser278LeufsTer22)" "7"
"0001008806" "00001847" "90" "834" "0" "834" "0" "c.834del" "r.(?)" "p.(Asp279IlefsTer21)" "7"
"0001008807" "00001847" "50" "838" "0" "838" "0" "c.838A>T" "r.(?)" "p.(Met280Leu)" "7"
"0001008808" "00001847" "50" "839" "0" "839" "0" "c.839T>C" "r.(?)" "p.(Met280Thr)" "7"
"0001008809" "00001847" "50" "839" "0" "839" "0" "c.839T>G" "r.(?)" "p.(Met280Arg)" "7"
"0001008810" "00001847" "90" "850" "0" "857" "0" "c.850_857del" "r.(?)" "p.(Ile284ValfsTer35)" "7"
"0001008811" "00001847" "50" "858" "1" "858" "1" "c.858+1G>T" "r.spl" "p.?" "7i"
"0001008812" "00001847" "50" "859" "-640" "859" "-640" "c.859-640A>G" "r.858_859ins859-685_859-640" "p.Phe287TyrfsTer69" "7i"
"0001008813" "00001847" "50" "859" "-546" "859" "-546" "c.859-546G>A" "r.[858_859ins859-545_859-685,=]" "p.[Phe287TyrfsTer33,=]" "7i"
"0001008814" "00001847" "70" "859" "-540" "859" "-540" "c.859-540C>G" "r.858_859ins859-545_859-685" "p.Phe287TyrfsTer33" "7i"
"0001008815" "00001847" "50" "859" "-506" "859" "-506" "c.859-506G>C" "r.[858_859ins859-503_859-447,=]" "p.[Phe287ThrfsTer32,=]" "7i"
"0001008816" "00001847" "50" "859" "-245" "859" "-243" "c.859-245_859-243delinsTGA" "r.(?)" "p.?" "7i"
"0001008817" "00001847" "70" "859" "-2" "859" "-2" "c.859-2A>G" "r.(?)" "p.?" "7i"
"0001008818" "00001847" "70" "869" "0" "869" "0" "c.869G>A" "r.(?)" "p.(Arg290Gln)" "8"
"0001008819" "00001847" "50" "874" "0" "874" "0" "c.874A>C" "r.(?)" "p.(Ser292Arg)" "8"
"0001008820" "00001847" "90" "880" "0" "880" "0" "c.880C>T" "r.(?)" "p.(Gln294Ter)" "8"
"0001008821" "00001847" "90" "895" "0" "895" "0" "c.895del" "r.(?)" "p.(Val299Ter)" "8"
"0001008822" "00001847" "70" "903" "0" "903" "0" "c.903del" "r.(?)" "p.(Arg301SerfsTer15)" "8"
"0001008823" "00001847" "50" "911" "0" "911" "0" "c.911T>G" "r.(?)" "p.(Met304Arg)" "8"
"0001008824" "00001847" "70" "938" "0" "938" "0" "c.938del" "r.(?)" "p.(Thr313LysfsTer3)" "8"
"0001008825" "00001847" "50" "956" "0" "956" "0" "c.956T>G" "r.(?)" "p.(Leu319Arg)" "8"
"0001008826" "00001847" "50" "959" "0" "959" "0" "c.959C>G" "r.(?)" "p.(Ser320Cys)" "8"
"0001008827" "00001847" "50" "970" "0" "970" "0" "c.970T>C" "r.(?)" "p.(Cys324Arg)" "8"
"0001008828" "00001847" "90" "972" "0" "973" "0" "c.972_973delinsAT" "r.(?)" "p.(Cys324Ter)" "8"
"0001008829" "00001847" "90" "978" "0" "978" "0" "c.978C>A" "r.(?)" "p.(Tyr326Ter)" "8"
"0001008830" "00001847" "90" "978" "0" "978" "0" "c.978C>G" "r.(?)" "p.(Tyr326Ter)" "8"
"0001008831" "00001847" "30" "981" "0" "981" "0" "c.981C>T" "r.(?)" "p.(Pro327=)" "8"
"0001008832" "00001847" "90" "1006" "0" "1006" "0" "c.1006del" "r.(?)" "p.(Ser336ProfsTer38)" "8"
"0001008833" "00001847" "50" "1016" "0" "1016" "0" "c.1016G>T" "r.(?)" "p.(Trp339Leu)" "8"
"0001008834" "00001847" "90" "1017" "0" "1017" "0" "c.1017G>A" "r.(?)" "p.(Trp339Ter)" "8"
"0001008835" "00001847" "90" "1018" "0" "1018" "0" "c.1018T>C" "r.(?)" "p.(Tyr340His)" "8"
"0001008836" "00001847" "70" "1019" "0" "1019" "0" "c.1019A>G" "r.(?)" "p.(Tyr340Cys)" "8"
"0001008837" "00001847" "70" "1022" "0" "1022" "0" "c.1022A>T" "r.(?)" "p.(Glu341Val)" "8"
"0001008838" "00001847" "90" "1027" "0" "1028" "0" "c.1027_1028del" "r.(?)" "p.(Asn343Ter)" "8"
"0001008839" "00001847" "30" "1029" "0" "1029" "0" "c.1029T>C" "r.(?)" "p.(Asn343=)" "8"
"0001008840" "00001847" "50" "1034" "0" "1034" "0" "c.1034A>C" "r.(?)" "p.(Tyr345Ser)" "8"
"0001008841" "00001847" "70" "1034" "0" "1034" "0" "c.1034A>G" "r.(?)" "p.(Tyr345Cys)" "8"
"0001008842" "00001847" "90" "1035" "0" "1036" "0" "c.1035_1036delinsAT" "r.(?)" "p.(Tyr345Ter)" "8"
"0001008843" "00001847" "50" "1043" "0" "1043" "0" "c.1043T>G" "r.(?)" "p.(Phe348Cys)" "8"
"0001008844" "00001847" "90" "1050" "0" "1050" "0" "c.1050del" "r.(?)" "p.(Ile351LeufsTer23)" "8"
"0001008845" "00001847" "50" "1085" "0" "1085" "0" "c.1085A>G" "r.(?)" "p.(Tyr362Cys)" "8"
"0001008846" "00001847" "90" "1099" "1" "1099" "1" "c.1099+1G>C" "r.spl" "p.?" "8i"
"0001008847" "00001847" "50" "1099" "3" "1099" "3" "c.1099+3A>C" "r.spl?" "p.?" "8i"
"0001008848" "00001847" "50" "1099" "5" "1099" "5" "c.1099+5G>A" "r.spl?" "p.?" "8i"
"0001008849" "00001847" "30" "1099" "37" "1099" "37" "c.1099+37C>T" "r.(=)" "p.(=)" "8i"
"0001008850" "00001847" "50" "1100" "-9" "1100" "-9" "c.1100-9T>C" "r.spl?" "p.?" "8i"
"0001008851" "00001847" "50" "1100" "-5" "1100" "-5" "c.1100-5G>A" "r.spl?" "p.?" "8i"
"0001008852" "00001847" "30" "1155" "0" "1155" "0" "c.1155C>T" "r.(?)" "p.(Ile385=)" "9"
"0001008853" "00001847" "50" "1156" "0" "1156" "0" "c.1156G>A" "r.(?)" "p.(Ala386Thr)" "9"
"0001008854" "00001847" "90" "1160" "0" "1160" "0" "c.1160G>A" "r.(?)" "p.(Trp387Ter)" "9"
"0001008855" "00001847" "90" "1161" "0" "1161" "0" "c.1161G>A" "r.(?)" "p.(Trp387Ter)" "9"
"0001008856" "00001847" "90" "1172" "0" "1172" "0" "c.1172del" "r.(?)" "p.(Lys391SerfsTer4)" "9"
"0001008857" "00001847" "50" "1181" "0" "1181" "0" "c.1181T>A" "r.(?)" "p.(Leu394Gln)" "9"
"0001008858" "00001847" "50" "1201" "0" "1201" "0" "c.1201A>C" "r.(?)" "p.(Thr401Pro)" "9"
"0001008859" "00001847" "50" "1204" "0" "1204" "0" "c.1204C>T" "r.(?)" "p.(Pro402Ser)" "9"
"0001008860" "00001847" "90" "1211" "0" "1211" "0" "c.1211C>A" "r.(?)" "p.(Ser404Ter)" "9"
"0001008861" "00001847" "90" "1211" "0" "1211" "0" "c.1211C>G" "r.(?)" "p.(Ser404Ter)" "9"
"0001008862" "00001847" "70" "1229" "0" "1229" "0" "c.1229T>C" "r.(?)" "p.(Ile410Thr)" "9"
"0001008863" "00001847" "70" "1232" "0" "1232" "0" "c.1232T>C" "r.(?)" "p.(Leu411Pro)" "9"
"0001008864" "00001847" "50" "1237" "0" "1237" "0" "c.1237A>T" "r.spl?" "p.(Asn413Tyr)" "9"
"0001008865" "00001847" "90" "1239" "1" "1239" "1" "c.1239+1G>A" "r.spl" "p.?" "9i"
"0001008866" "00001847" "70" "1240" "-8" "1240" "-8" "c.1240-8G>A" "r.(?)" "p.?" "9i"
"0001008867" "00001847" "30" "1240" "-8" "1240" "-8" "c.1240-8G>C" "r.(?)" "p.?" "9i"
"0001008868" "00001847" "50" "1243" "0" "1243" "0" "c.1243A>G" "r.(?)" "p.(Asn415Asp)" "10"
"0001008869" "00001847" "70" "1244" "0" "1244" "0" "c.1244A>G" "r.(?)" "p.(Asn415Ser)" "10"
"0001008870" "00001847" "50" "1249" "0" "1249" "0" "c.1249A>G" "r.(?)" "p.(Thr417Ala)" "10"
"0001008871" "00001847" "50" "1252" "0" "1252" "0" "c.1252T>C" "r.(?)" "p.(Phe418Leu)" "10"
"0001008872" "00001847" "50" "1267" "0" "1267" "0" "c.1267C>T" "r.(?)" "p.(His423Tyr)" "10"
"0001008873" "00001847" "50" "1268" "0" "1268" "0" "c.1268A>C" "r.(?)" "p.(His423Pro)" "10"
"0001008874" "00001847" "10" "1269" "0" "1269" "0" "c.1269C>T" "r.(?)" "p.(His423=)" "10"
"0001008875" "00001847" "50" "1283" "0" "1283" "0" "c.1283T>A" "r.(?)" "p.(Val428Asp)" "10"
"0001008876" "00001847" "50" "1289" "0" "1289" "0" "c.1289C>A" "r.(?)" "p.(Ala430Asp)" "10"
"0001008877" "00001847" "90" "1290" "0" "1290" "0" "c.1290dup" "r.(?)" "p.(Trp431LeufsTer13)" "10"
"0001008878" "00001847" "70" "1293" "0" "1293" "0" "c.1293G>C" "r.(?)" "p.(Trp431Cys)" "10"
"0001008879" "00001847" "70" "1301" "0" "1301" "0" "c.1301T>G" "r.(?)" "p.(Val434Gly)" "10"
"0001008880" "00001847" "50" "1309" "0" "1309" "0" "c.1309C>A" "r.(?)" "p.(Gln437Lys)" "10"
"0001008881" "00001847" "90" "1318" "0" "1318" "0" "c.1318del" "r.(?)" "p.(Tyr440ThrfsTer9)" "10"
"0001008882" "00001847" "90" "1339" "0" "1339" "0" "c.1339C>T" "r.(?)" "p.(Gln447Ter)" "10"
"0001008883" "00001847" "50" "1343" "0" "1345" "0" "c.1343_1345del" "r.(?)" "p.(Met448del)" "10"
"0001008884" "00001847" "50" "1351" "0" "1351" "0" "c.1351A>C" "r.(?)" "p.(Ile451Leu)" "10"
"0001008885" "00001847" "90" "1354" "0" "1354" "0" "c.1354dup" "r.spl?" "p.(Arg452LysfsTer15)" "10"
"0001008886" "00001847" "90" "1356" "0" "1356" "0" "c.1356del" "r.spl?" "p.(Asp453IlefsTer8)" "10"
"0001008887" "00001847" "50" "1356" "1" "1356" "1" "c.1356+1G>A" "r.spl" "p.?" "10i"
"0001008888" "00001847" "50" "1356" "1" "1356" "1" "c.1356+1G>T" "r.spl" "p.?" "10i"
"0001008889" "00001847" "50" "1356" "4" "1356" "4" "c.1356+4A>G" "r.spl" "p.?" "10i"
"0001008890" "00001847" "50" "1356" "3" "1356" "4" "c.1356+3_1356+4insG" "r.spl?" "p.?" "10i"
"0001008891" "00001847" "30" "1356" "5" "1356" "6" "c.1356+5_1356+6insC" "r.spl?" "p.?" "10i"
"0001008892" "00001847" "30" "1356" "20" "1356" "20" "c.1356+20G>A" "r.spl?" "p.?" "10i"
"0001008893" "00001847" "70" "1357" "-2" "1357" "-2" "c.1357-2A>G" "r.spl" "p.?" "10i"
"0001008894" "00001847" "50" "1357" "0" "1357" "0" "c.1357G>T" "r.spl?" "p.(Asp453Tyr,?)" "11"
"0001008895" "00001847" "90" "1357" "0" "1358" "0" "c.1357_1358del" "r.spl?" "p.(Asp453TyrfsTer13)" "11"
"0001008896" "00001847" "50" "1359" "0" "1359" "0" "c.1359T>G" "r.spl?" "p.(Asp453Glu)" "11"
"0001008897" "00001847" "70" "1364" "0" "1364" "0" "c.1364T>A" "r.(?)" "p.(Leu455Gln)" "11"
"0001008898" "00001847" "50" "1364" "0" "1364" "0" "c.1364T>C" "r.(?)" "p.(Leu455Pro)" "11"
"0001008899" "00001847" "70" "1372" "0" "1372" "0" "c.1372C>T" "r.(?)" "p.(Pro458Ser)" "11"
"0001008900" "00001847" "50" "1373" "0" "1373" "0" "c.1373C>T" "r.(?)" "p.(Pro458Leu)" "11"
"0001008901" "00001847" "90" "1382" "0" "1383" "0" "c.1382_1383del" "r.(?)" "p.(Lys461ArgfsTer5)" "11"
"0001008902" "00001847" "50" "1411" "0" "1411" "0" "c.1411G>C" "r.(?)" "p.(Glu471Gln)" "11"
"0001008903" "00001847" "90" "1417" "0" "1420" "0" "c.1417_1420dup" "r.(?)" "p.(Thr474AsnfsTer4)" "11"
"0001008904" "00001847" "90" "1454" "0" "1454" "0" "c.1454del" "r.(?)" "p.(Gly485AlafsTer83)" "11"
"0001008905" "00001847" "90" "1457" "0" "1457" "0" "c.1457del" "r.(?)" "p.(Pro486LeufsTer82)" "11"
"0001008906" "00001847" "30" "1460" "0" "1460" "0" "c.1460G>A" "r.(?)" "p.(Arg487Gln)" "11"
"0001008907" "00001847" "90" "1462" "0" "1462" "0" "c.1462G>T" "r.(?)" "p.(Glu488Ter)" "11"
"0001008908" "00001847" "50" "1492" "0" "1492" "0" "c.1492G>A" "r.(?)" "p.(Asp498Asn)" "11"
"0001008909" "00001847" "90" "1496" "0" "1496" "0" "c.1496G>A" "r.(?)" "p.(Trp499Ter)" "11"
"0001008910" "00001847" "90" "1497" "0" "1497" "0" "c.1497G>A" "r.(?)" "p.(Trp499Ter)" "11"
"0001008911" "00001847" "50" "1497" "0" "1497" "0" "c.1497G>C" "r.(?)" "p.(Trp499Cys)" "11"
"0001008912" "00001847" "30" "1500" "0" "1500" "0" "c.1500G>A" "r.(?)" "p.(Arg500=)" "11"
"0001008913" "00001847" "70" "1510" "0" "1510" "0" "c.1510A>C" "r.(?)" "p.(Asn504His)" "11"
"0001008914" "00001847" "70" "1512" "0" "1512" "0" "c.1512dup" "r.(?)" "p.(Ile505HisfsTer3)" "11"
"0001008915" "00001847" "70" "1523" "0" "1523" "0" "c.1523G>C" "r.(?)" "p.(Arg508Pro)" "11"
"0001008916" "00001847" "70" "1529" "0" "1529" "0" "c.1529T>C" "r.(?)" "p.(Leu510Pro)" "11"
"0001008917" "00001847" "50" "1538" "0" "1538" "0" "c.1538T>C" "r.(?)" "p.(Val513Ala)" "11"
"0001008918" "00001847" "50" "1538" "0" "1538" "0" "c.1538T>G" "r.(?)" "p.(Val513Gly)" "11"
"0001008919" "00001847" "50" "1552" "0" "1552" "0" "c.1552G>A" "r.spl?" "p.(Glu518Lys)" "11"
"0001008920" "00001847" "50" "1554" "0" "1554" "0" "c.1554G>A" "r.spl?" "p.(Glu518=)" "11"
"0001008921" "00001847" "50" "1554" "3" "1554" "3" "c.1554+3A>T" "r.[1357_1554del,=]" "p.[Asp453_Glu518del,=]" "11i"
"0001008922" "00001847" "70" "1239" "291" "1555" "-5574" "c.1239+291_1555-5574del" "r.(?)" "p.?" "9i_11i"
"0001008923" "00001847" "30" "1555" "-2745" "1555" "-2745" "c.1555-2745A>G" "r.spl?" "p.?" "11i"
"0001008924" "00001847" "50" "1555" "-816" "1555" "-816" "c.1555-816T>G" "r.1554_1555ins[1555-898_1555-815;g]" "p.Cys519SerfsTer77" "11i"
"0001008925" "00001847" "70" "1555" "-1" "1555" "-1" "c.1555-1G>T" "r.(?)" "p.?" "11i"
"0001008926" "00001847" "50" "1555" "0" "1555" "0" "c.1555T>C" "r.spl?" "p.(Cys519Arg,?)" "12"
"0001008927" "00001847" "70" "1556" "0" "1556" "0" "c.1556G>A" "r.spl?" "p.(Cys519Tyr,?)" "12"
"0001008928" "00001847" "90" "1557" "0" "1557" "0" "c.1557C>A" "r.spl?" "p.(Cys519Ter)" "12"
"0001008929" "00001847" "90" "1562" "0" "1562" "0" "c.1562del" "r.(?)" "p.(Val521AlafsTer47)" "12"
"0001008930" "00001847" "50" "1566" "0" "1566" "0" "c.1566G>A" "r.(?)" "p.(Leu522=)" "12"
"0001008931" "00001847" "70" "1574" "0" "1574" "0" "c.1574T>C" "r.(?)" "p.(Phe525Ser)" "12"
"0001008932" "00001847" "90" "1584" "0" "1584" "0" "c.1584C>A" "r.(?)" "p.(Tyr528Ter)" "12"
"0001008933" "00001847" "50" "1588" "0" "1588" "0" "c.1588G>A" "r.(?)" "p.(Asp530Asn)" "12"
"0001008934" "00001847" "90" "1597" "0" "1597" "0" "c.1597C>T" "r.(?)" "p.(Gln533Ter)" "12"
"0001008935" "00001847" "50" "1610" "0" "1610" "0" "c.1610G>A" "r.(?)" "p.(Arg537His)" "12"
"0001008936" "00001847" "90" "1615" "0" "1615" "0" "c.1615del" "r.(?)" "p.(Leu539SerfsTer29)" "12"
"0001008937" "00001847" "30" "1614" "0" "1614" "0" "c.1614C>T" "r.(?)" "p.(Ala538=)" "12"
"0001008938" "00001847" "50" "1615" "0" "1615" "0" "c.1615C>G" "r.(?)" "p.(Leu539Val)" "12"
"0001008939" "00001847" "90" "1619" "0" "1622" "0" "c.1619_1622del" "r.(?)" "p.(Ser540TyrfsTer27)" "12"
"0001008940" "00001847" "90" "1622" "0" "1622" "0" "c.1622delinsCC" "r.(?)" "p.(Leu541ProfsTer15)" "12"
"0001008941" "00001847" "90" "1621" "0" "1622" "0" "c.1621_1622del" "r.(?)" "p.(Leu541ThrfsTer14)" "12"
"0001008942" "00001847" "50" "1633" "0" "1633" "0" "c.1633A>T" "r.(?)" "p.(Asn545Tyr)" "12"
"0001008943" "00001847" "90" "1630" "0" "1633" "0" "c.1630_1633dup" "r.(?)" "p.(Asn545ArgfsTer12)" "12"
"0001008944" "00001847" "50" "1636" "0" "1636" "0" "c.1636A>C" "r.(?)" "p.(Met546Leu)" "12"
"0001008945" "00001847" "50" "1642" "0" "1642" "0" "c.1642T>C" "r.(?)" "p.(Trp548Arg)" "12"
"0001008946" "00001847" "90" "1643" "0" "1643" "0" "c.1643G>A" "r.(?)" "p.(Trp548Ter)" "12"
"0001008947" "00001847" "90" "1644" "0" "1644" "0" "c.1644G>A" "r.(?)" "p.(Trp548Ter)" "12"
"0001008948" "00001847" "50" "1646" "0" "1646" "0" "c.1646C>A" "r.(?)" "p.(Ala549Asp)" "12"
"0001008949" "00001847" "90" "1649" "0" "1649" "0" "c.1649del" "r.(?)" "p.(Gly550GlufsTer18)" "12"
"0001008950" "00001847" "70" "1648" "0" "1648" "0" "c.1648G>C" "r.(?)" "p.(Gly550Arg)" "12"
"0001008951" "00001847" "90" "1648" "0" "1648" "0" "c.1648G>T" "r.(?)" "p.(Gly550Ter)" "12"
"0001008952" "00001847" "30" "1653" "0" "1653" "0" "c.1653G>A" "r.(?)" "p.(Val551=)" "12"
"0001008953" "00001847" "50" "1648" "0" "1659" "0" "c.1648_1659del" "r.(?)" "p.(Gly550_Phe553del)" "12"
"0001008954" "00001847" "50" "1663" "0" "1663" "0" "c.1663G>A" "r.(?)" "p.(Asp555Asn)" "12"
"0001008955" "00001847" "70" "1667" "0" "1667" "0" "c.1667T>G" "r.(?)" "p.(Met556Arg)" "12"
"0001008956" "00001847" "90" "1677" "0" "1677" "0" "c.1677G>A" "r.(?)" "p.(Trp559Ter)" "12"
"0001008957" "00001847" "50" "1677" "0" "1677" "0" "c.1677G>C" "r.(?)" "p.(Trp559Cys)" "12"
"0001008958" "00001847" "90" "1680" "0" "1680" "0" "c.1680del" "r.(?)" "p.(Ser561AlafsTer7)" "12"
"0001008959" "00001847" "90" "1681" "0" "1681" "0" "c.1681del" "r.(?)" "p.(Ser561AlafsTer7)" "12"
"0001008960" "00001847" "30" "1692" "0" "1692" "0" "c.1692A>G" "r.(?)" "p.(Pro564=)" "12"
"0001008961" "00001847" "50" "1706" "0" "1706" "0" "c.1706A>G" "r.(?)" "p.(Tyr569Cys)" "12"
"0001008962" "00001847" "70" "1715" "0" "1715" "0" "c.1715G>A" "r.(?)" "p.(Arg572Gln)" "12"
"0001008963" "00001847" "50" "1719" "0" "1719" "0" "c.1719G>A" "r.(?)" "p.(Met573Ile)" "12"
"0001008964" "00001847" "50" "1742" "0" "1742" "0" "c.1742C>A" "r.(?)" "p.(Thr581Asn)" "12"
"0001008965" "00001847" "50" "1745" "0" "1745" "0" "c.1745A>G" "r.(?)" "p.(Asn582Ser)" "12"
"0001008966" "00001847" "50" "1748" "0" "1748" "0" "c.1748A>C" "r.(?)" "p.(Lys583Thr)" "12"
"0001008967" "00001847" "90" "1755" "0" "1755" "0" "c.1755del" "r.(?)" "p.(Asp586ThrfsTer63)" "12"
"0001008968" "00001847" "70" "1757" "0" "1757" "0" "c.1757A>G" "r.(?)" "p.(Asp586Gly)" "12"
"0001008969" "00001847" "50" "1758" "0" "1758" "0" "c.1758C>A" "r.spl?" "p.(Asp586Glu)" "12"
"0001008970" "00001847" "90" "1760" "0" "1760" "0" "c.1760G>A" "r.spl?" "p.(Arg587Lys)" "12"
"0001008971" "00001847" "70" "1760" "1" "1760" "1" "c.1760+1G>A" "r.spl" "p.?" "12i"
"0001008972" "00001847" "90" "1760" "2" "1760" "2" "c.1760+2T>C" "r.spl" "p.?" "12i"
"0001008973" "00001847" "30" "1761" "-50" "1761" "-50" "c.1761-50G>A" "r.(?)" "p.?" "12i"
"0001008974" "00001847" "90" "1761" "-2" "1761" "-2" "c.1761-2A>G" "r.spl" "p.?" "13"
"0001008975" "00001847" "50" "1766" "0" "1766" "0" "c.1766G>C" "r.(?)" "p.(Trp589Ser)" "13"
"0001008976" "00001847" "50" "1778" "0" "1778" "0" "c.1778C>T" "r.(?)" "p.(Pro593Leu)" "13"
"0001008977" "00001847" "70" "1783" "0" "1783" "0" "c.1783G>A" "r.(?)" "p.(Ala595Thr)" "13"
"0001008978" "00001847" "50" "1790" "0" "1790" "0" "c.1790C>T" "r.(?)" "p.(Pro597Leu)" "13"
"0001008979" "00001847" "50" "1793" "0" "1793" "0" "c.1793T>G" "r.(?)" "p.(Val598Gly)" "13"
"0001008980" "00001847" "90" "1795" "0" "1795" "0" "c.1795del" "r.(?)" "p.(Glu599LysfsTer50)" "13"
"0001008981" "00001847" "50" "1805" "0" "1805" "0" "c.1805G>T" "r.(?)" "p.(Arg602Leu)" "13"
"0001008982" "00001847" "90" "1807" "0" "1807" "0" "c.1807T>C" "r.(?)" "p.(Tyr603His)" "13"
"0001008983" "00001847" "50" "1808" "0" "1808" "0" "c.1808A>G" "r.(?)" "p.(Tyr603Cys)" "13"
"0001008984" "00001847" "50" "1811" "0" "1811" "0" "c.1811T>G" "r.(?)" "p.(Ile604Ser)" "13"
"0001008985" "00001847" "50" "1812" "0" "1812" "0" "c.1812C>G" "r.(?)" "p.(Ile604Met)" "13"
"0001008986" "00001847" "90" "1814" "0" "1814" "0" "c.1814G>A" "r.(?)" "p.(Trp605Ter)" "13"
"0001008987" "00001847" "50" "1817" "0" "1817" "0" "c.1817G>A" "r.(?)" "p.(Gly606Asp)" "13"
"0001008988" "00001847" "30" "1818" "0" "1818" "0" "c.1818C>T" "r.(?)" "p.(Gly606=)" "13"
"0001008989" "00001847" "50" "1819" "0" "1819" "0" "c.1819G>M" "r.(?)" "p.(Gly607Arg)" "13"
"0001008990" "00001847" "90" "1830" "0" "1830" "0" "c.1830T>A" "r.(?)" "p.(Tyr610Ter)" "13"
"0001008991" "00001847" "70" "1843" "0" "1843" "0" "c.1843G>T" "r.(?)" "p.(Val615Phe)" "13"
"0001008992" "00001847" "70" "1844" "0" "1844" "0" "c.1844T>C" "r.(?)" "p.(Val615Ala)" "13"
"0001008993" "00001847" "90" "1848" "0" "1848" "0" "c.1848del" "r.(?)" "p.(Glu616AspfsTer33)" "13"
"0001008994" "00001847" "50" "1853" "0" "1853" "0" "c.1853G>T" "r.(?)" "p.(Gly618Val)" "13"
"0001008995" "00001847" "90" "1851" "0" "1860" "0" "c.1851_1860del" "r.(?)" "p.(Ile619AlafsTer27)" "13"
"0001008996" "00001847" "50" "1861" "0" "1861" "0" "c.1861A>G" "r.(?)" "p.(Arg621Gly)" "13"
"0001008997" "00001847" "50" "1862" "0" "1862" "0" "c.1862G>C" "r.(?)" "p.(Arg621Thr)" "13"
"0001008998" "00001847" "90" "1873" "0" "1873" "0" "c.1873C>T" "r.(?)" "p.(Gln625Ter)" "13"
"0001008999" "00001847" "90" "1879" "0" "1879" "0" "c.1879G>T" "r.(?)" "p.(Glu627Ter)" "13"
"0001009000" "00001847" "90" "1891" "0" "1891" "0" "c.1891G>A" "r.(?)" "p.(Gly631Arg)" "13"
"0001009001" "00001847" "90" "1892" "0" "1892" "0" "c.1892G>T" "r.(?)" "p.(Gly631Val)" "13"
"0001009002" "00001847" "50" "1895" "0" "1895" "0" "c.1895T>A" "r.(?)" "p.(Ile632Asn)" "13"
"0001009003" "00001847" "70" "1906" "0" "1906" "0" "c.1906C>A" "r.(?)" "p.(Gln636Lys)" "13"
"0001009004" "00001847" "50" "1912" "0" "1912" "0" "c.1912C>T" "r.(?)" "p.(Pro638Ser)" "13"
"0001009005" "00001847" "50" "1913" "0" "1913" "0" "c.1913C>T" "r.(?)" "p.(Pro638Leu)" "13"
"0001009006" "00001847" "50" "1916" "0" "1916" "0" "c.1916A>G" "r.(?)" "p.(Tyr639Cys)" "13"
"0001009007" "00001847" "50" "1918" "0" "1918" "0" "c.1918C>G" "r.(?)" "p.(Pro640Ala)" "13"
"0001009008" "00001847" "50" "1921" "0" "1921" "0" "c.1921T>C" "r.(?)" "p.(Cys641Arg)" "13"
"0001009009" "00001847" "50" "1921" "0" "1921" "0" "c.1921T>G" "r.(?)" "p.(Cys641Gly)" "13"
"0001009010" "00001847" "30" "1932" "0" "1932" "0" "c.1932C>T" "r.(?)" "p.(Asp644=)" "13"
"0001009011" "00001847" "50" "1933" "0" "1933" "0" "c.1933G>T" "r.(?)" "p.(Asp645Tyr)" "13"
"0001009012" "00001847" "50" "1937" "1" "1937" "1" "c.1937+1G>C" "r.spl" "p.?" "13i"
"0001009013" "00001847" "70" "1937" "5" "1937" "5" "c.1937+5G>A" "r.1806_1937del" "p.Tyr603_Ser646del" "13i"
"0001009014" "00001847" "50" "1937" "13" "1937" "13" "c.1937+13T>G" "r.[1937_1938ins_1938+1_1938+12,=]" "p.[Phe647Ter,=]" "13i"
"0001009015" "00001847" "30" "1937" "15" "1937" "15" "c.1937+15C>T" "r.(?)" "p.?" "13i"
"0001009016" "00001847" "70" "1937" "37" "1937" "37" "c.1937+37C>G" "r.1937_1938ins_1938+1_1938+36" "p.Phe647Ter" "13i"
"0001009017" "00001847" "50" "1937" "435" "1937" "435" "c.1937+435C>G" "r.[=,1937_1938ins1937+396_1937+529]" "p.[=,Ser646SerfsTer25]" "13i"
"0001009018" "00001847" "70" "1555" "-1033" "1937" "615" "c.1555-1033_1937+615delinsAGC" "r.(?)" "p.?" "11i_13i"
"0001009019" "00001847" "30" "1938" "-822" "1938" "-808" "c.1938-822_1938-808del" "r.(?)" "p.?" "13i"
"0001009020" "00001847" "30" "1938" "-637" "1938" "-637" "c.1938-637A>G" "r.(?)" "p.?" "13i"
"0001009021" "00001847" "50" "1938" "-621" "1938" "-621" "c.1938-621G>A" "r.[=,1937_1938ins1938-797_1938-624, 1937_1938ins[1937+396_1937+529;1938-797_1938-624]" "p.[=,Phe647AlafsTer22,Phe647SerfsTer22]" "13i"
"0001009022" "00001847" "70" "1938" "-619" "1938" "-619" "c.1938-619A>G" "r.[1937_1938ins1938-797_1938-624,=]" "p.[Phe647AlafsTer22,=]" "13i"
"0001009023" "00001847" "30" "1938" "-605" "1938" "-605" "c.1938-605C>T" "r.(?)" "p.?" "13i"
"0001009024" "00001847" "50" "1938" "-514" "1938" "-514" "c.1938-514A>G" "r.[1937_1938ins1937+396_1937+529;1938-623_1938-515],1937_1938ins1938-623_1938-515,=]" "p.[Phe647SerfsTer155,Phe647SerfsTer22,=]" "13i"
"0001009025" "00001847" "30" "1951" "0" "1951" "0" "c.1951C>T" "r.(=)" "p.(Leu651=)" "14"
"0001009026" "00001847" "50" "1958" "0" "1958" "0" "c.1958G>T" "r.(?)" "p.(Arg653Leu)" "14"
"0001009027" "00001847" "90" "1964" "0" "1964" "0" "c.1964del" "r.(?)" "p.(Phe655SerfsTer15)" "14"
"0001009028" "00001847" "30" "1969" "0" "1969" "0" "c.1969A>G" "r.(?)" "p.(Ile657Val)" "14"
"0001009029" "00001847" "90" "1982" "0" "1982" "0" "c.1982T>G" "r.(?)" "p.(Leu661Arg)" "14"
"0001009030" "00001847" "50" "1993" "0" "1993" "0" "c.1993T>G" "r.(?)" "p.(Tyr665Asp)" "14"
"0001009031" "00001847" "90" "2012" "0" "2013" "0" "c.2012_2013del" "r.(?)" "p.(Val671GlufsTer94)" "14"
"0001009032" "00001847" "90" "2019" "0" "2031" "0" "c.2019_2031del" "r.(?)" "p.(Ser673ArgfsTer6)" "14"
"0001009033" "00001847" "50" "2032" "0" "2034" "0" "c.2032_2034del" "r.(?)" "p.(Lys678del)" "14"
"0001009034" "00001847" "90" "2055" "0" "2055" "0" "c.2055del" "r.(?)" "p.(Leu686Ter)" "14"
"0001009035" "00001847" "50" "2063" "0" "2063" "0" "c.2063A>T" "r.(?)" "p.(Asn688Ile)" "14"
"0001009036" "00001847" "90" "2063" "0" "2063" "0" "c.2063dup" "r.(?)" "p.(Asn688LysfsTer78)" "14"
"0001009037" "00001847" "50" "2079" "0" "2079" "0" "c.2079T>G" "r.(?)" "p.(Asn693Lys)" "14"
"0001009038" "00001847" "50" "2083" "0" "2083" "0" "c.2083G>C" "r.(?)" "p.(Val695Leu)" "14"
"0001009039" "00001847" "50" "2092" "0" "2092" "0" "c.2092T>C" "r.(?)" "p.(Cys698Arg)" "14"
"0001009040" "00001847" "50" "2105" "0" "2105" "0" "c.2105T>C" "r.(?)" "p.(Leu702Pro)" "14"
"0001009041" "00001847" "30" "2127" "0" "2127" "0" "c.2127G>A" "r.(?)" "p.(Ser709=)" "14"
"0001009042" "00001847" "90" "2160" "2" "2160" "2" "c.2160+2T>G" "r.spl" "p.?" "14i"
"0001009043" "00001847" "30" "2160" "584" "2160" "584" "c.2160+584A>G" "r.=" "p.(=)" "14i"
"0001009044" "00001847" "50" "2161" "-6" "2161" "-6" "c.2161-6T>C" "r.(?)" "p.?" "14i"
"0001009045" "00001847" "50" "2161" "-2" "2161" "-2" "c.2161-2A>G" "r.spl?" "p.?" "14i"
"0001009046" "00001847" "90" "2169" "0" "2172" "0" "c.2169_2172dup" "r.(?)" "p.(Leu725AsnfsTer42)" "15"
"0001009047" "00001847" "50" "2173" "0" "2173" "0" "c.2173C>A" "r.(?)" "p.(Leu725Ile)" "15"
"0001009048" "00001847" "90" "2177" "0" "2177" "0" "c.2177del" "r.(?)" "p.(His726LeufsTer61)" "15"
"0001009049" "00001847" "50" "2184" "0" "2184" "0" "c.2184C>A" "r.(?)" "p.(Ser728Arg)" "15"
"0001009050" "00001847" "50" "2194" "0" "2202" "0" "c.2194_2202del" "r.(?)" "p.(Ile732_Phe734del)" "15"
"0001009051" "00001847" "50" "2237" "0" "2237" "0" "c.2237T>A" "r.(?)" "p.(Met746Lys)" "15"
"0001009052" "00001847" "90" "2243" "0" "2243" "0" "c.2243delinsTT" "r.(?)" "p.(Cys748PhefsTer18)" "15"
"0001009053" "00001847" "70" "2249" "0" "2249" "0" "c.2249T>C" "r.(?)" "p.(Leu750Pro)" "15"
"0001009054" "00001847" "50" "2252" "0" "2252" "0" "c.2252T>C" "r.(?)" "p.(Leu751Pro)" "15"
"0001009055" "00001847" "50" "2255" "0" "2255" "0" "c.2255G>A" "r.(?)" "p.(Ser752Asn)" "15"
"0001009056" "00001847" "70" "2261" "0" "2261" "0" "c.2261T>C" "r.(?)" "p.(Phe754Ser)" "15"
"0001009057" "00001847" "70" "2265" "0" "2265" "0" "c.2265C>G" "r.(?)" "p.(Phe755Leu)" "15"
"0001009058" "00001847" "50" "2267" "0" "2267" "0" "c.2267C>T" "r.(?)" "p.(Ser756Phe)" "15"
"0001009059" "00001847" "50" "2273" "0" "2273" "0" "c.2273C>T" "r.(?)" "p.(Ala758Val)" "15"
"0001009060" "00001847" "70" "2282" "0" "2282" "0" "c.2282C>T" "r.(?)" "p.(Ala761Val)" "15"
"0001009061" "00001847" "50" "2294" "0" "2294" "0" "c.2294G>C" "r.(?)" "p.(Ser765Thr)" "15"
"0001009062" "00001847" "90" "2297" "0" "2297" "0" "c.2297dup" "r.(?)" "p.(Val767CysfsTer23)" "15"
"0001009063" "00001847" "50" "2297" "0" "2297" "0" "c.2297G>A" "r.(?)" "p.(Gly766Asp)" "15"
"0001009064" "00001847" "90" "2299" "0" "2299" "0" "c.2299del" "r.(?)" "p.(Val767SerfsTer20)" "15"
"0001009065" "00001847" "50" "2311" "0" "2311" "0" "c.2311A>T" "r.(?)" "p.(Thr771Ser)" "15"
"0001009066" "00001847" "30" "2337" "0" "2337" "0" "c.2337C>T" "r.(?)" "p.(Cys779=)" "15"
"0001009067" "00001847" "50" "2341" "0" "2341" "0" "c.2341G>A" "r.(?)" "p.(Ala781Thr)" "15"
"0001009068" "00001847" "90" "2347" "0" "2347" "0" "c.2347C>T" "r.(?)" "p.(Gln783Ter)" "15"
"0001009069" "00001847" "50" "2353" "0" "2353" "0" "c.2353C>G" "r.(?)" "p.(Arg785Gly)" "15"
"0001009070" "00001847" "50" "2353" "0" "2353" "0" "c.2353C>T" "r.(?)" "p.(Arg785Cys)" "15"
"0001009071" "00001847" "90" "2349" "0" "2356" "0" "c.2349_2356dup" "r.(?)" "p.(Met786ArgfsTer4)" "15"
"0001009072" "00001847" "50" "2354" "0" "2354" "0" "c.2354G>T" "r.(?)" "p.(Arg785Leu)" "15"
"0001009073" "00001847" "70" "2382" "0" "2382" "0" "c.2382G>C" "r.spl?" "p.(Val794=)" "15"
"0001009074" "00001847" "50" "2382" "4" "2382" "4" "c.2382+4A>G" "r.spl?" "p.?" "15i"
"0001009075" "00001847" "90" "2383" "-1" "2383" "-1" "c.2383-1G>A" "r.spl" "p.?" "15i"
"0001009076" "00001847" "90" "2383" "-1" "2383" "-1" "c.2383-1G>C" "r.spl" "p.?" "15i"
"0001009077" "00001847" "50" "2384" "0" "2384" "0" "c.2384G>A" "r.spl?" "p.(Ser795Asn)" "16"
"0001009078" "00001847" "50" "2384" "0" "2384" "0" "c.2384G>T" "r.spl?" "p.(Ser795Ile)" "16"
"0001009079" "00001847" "70" "2385" "0" "2385" "0" "c.2385C>G" "r.spl?" "p.(Ser795Arg)" "16"
"0001009080" "00001847" "50" "2399" "0" "2399" "0" "c.2399T>C" "r.(?)" "p.(Val800Ala)" "16"
"0001009081" "00001847" "90" "2409" "0" "2410" "0" "c.2409_2410del" "r.(?)" "p.(Phe804TrpfsTer3)" "16"
"0001009082" "00001847" "50" "2413" "0" "2413" "0" "c.2413G>A" "r.(?)" "p.(Gly805Ser)" "16"
"0001009083" "00001847" "50" "2431" "0" "2431" "0" "c.2431C>T" "r.(?)" "p.(Arg811Cys)" "16"
"0001009084" "00001847" "30" "2433" "0" "2433" "0" "c.2433C>T" "r.(?)" "p.(Arg811=)" "16"
"0001009085" "00001847" "50" "2438" "0" "2438" "0" "c.2438A>C" "r.(?)" "p.(Glu813Ala)" "16"
"0001009086" "00001847" "90" "2443" "0" "2443" "0" "c.2443C>T" "r.(?)" "p.(Gln815Ter)" "16"
"0001009087" "00001847" "50" "2447" "0" "2447" "0" "c.2447G>T" "r.(?)" "p.(Gly816Val)" "16"
"0001009088" "00001847" "70" "2461" "0" "2461" "0" "c.2461T>C" "r.(?)" "p.(Trp821Arg)" "16"
"0001009089" "00001847" "90" "2463" "0" "2463" "0" "c.2463G>A" "r.(?)" "p.(Trp821Ter)" "16"
"0001009090" "00001847" "30" "2464" "0" "2464" "0" "c.2464A>G" "r.(?)" "p.(Ser822Gly)" "16"
"0001009091" "00001847" "30" "2473" "0" "2473" "0" "c.2473G>A" "r.(?)" "p.(Gly825Arg)" "16"
"0001009092" "00001847" "90" "2481" "0" "2481" "0" "c.2481del" "r.(?)" "p.(Thr829ArgfsTer14)" "16"
"0001009093" "00001847" "50" "2483" "0" "2483" "0" "c.2483C>T" "r.(?)" "p.(Pro828Leu)" "16"
"0001009094" "00001847" "90" "2488" "0" "2488" "0" "c.2488G>T" "r.(?)" "p.(Glu830Ter)" "16"
"0001009095" "00001847" "50" "2494" "0" "2494" "0" "c.2494G>T" "r.(?)" "p.(Asp832Tyr)" "16"
"0001009096" "00001847" "50" "2521" "0" "2521" "0" "c.2521C>A" "r.(?)" "p.(Gln841Lys)" "16"
"0001009097" "00001847" "50" "2522" "0" "2522" "0" "c.2522A>C" "r.(?)" "p.(Gln841Pro)" "16"
"0001009098" "00001847" "30" "2532" "0" "2532" "0" "c.2532C>G" "r.(?)" "p.(Leu844=)" "16"
"0001009099" "00001847" "50" "2536" "0" "2536" "0" "c.2536G>A" "r.(?)" "p.(Asp846Asn)" "16"
"0001009100" "00001847" "70" "2537" "0" "2537" "0" "c.2537A>T" "r.(?)" "p.(Asp846Val)" "16"
"0001009101" "00001847" "50" "2540" "0" "2540" "0" "c.2540C>T" "r.(?)" "p.(Ala847Val)" "16"
"0001009102" "00001847" "90" "2556" "0" "2556" "0" "c.2556del" "r.(?)" "p.(Leu852PhefsTer49)" "16"
"0001009103" "00001847" "90" "2560" "0" "2560" "0" "c.2560dup" "r.(?)" "p.(Ala854GlyfsTer5)" "16"
"0001009104" "00001847" "70" "2566" "0" "2566" "0" "c.2566T>A" "r.(?)" "p.(Tyr856Asn)" "16"
"0001009105" "00001847" "70" "2570" "0" "2570" "0" "c.2570T>C" "r.(?)" "p.(Leu857Pro)" "16"
"0001009106" "00001847" "90" "2572" "0" "2572" "0" "c.2572dup" "r.(?)" "p.(Asp858GlyfsTer27)" "16"
"0001009107" "00001847" "50" "2572" "0" "2572" "0" "c.2572G>T" "r.(?)" "p.(Asp858Tyr)" "16"
"0001009108" "00001847" "90" "2575" "0" "2575" "0" "c.2575C>T" "r.(?)" "p.(Gln859Ter)" "16"
"0001009109" "00001847" "50" "2576" "0" "2576" "0" "c.2576A>G" "r.(?)" "p.(Gln859Arg)" "16"
"0001009110" "00001847" "50" "2579" "0" "2579" "0" "c.2579T>C" "r.(?)" "p.(Val860Ala)" "16"
"0001009111" "00001847" "90" "2587" "0" "2587" "0" "c.2587G>T" "r.spl?" "p.(Gly863Ter)" "16"
"0001009112" "00001847" "90" "2587" "0" "2587" "7" "c.2587_2587+7del" "r.spl" "p.(Gly863GlufsTer38)" "16_16i"
"0001009113" "00001847" "90" "2587" "0" "2587" "6" "c.2587_2587+6del" "r.spl" "p.(Gly863GlufsTer38)" "16_16i"
"0001009114" "00001847" "30" "2587" "11" "2587" "11" "c.2587+11T>C" "r.(?)" "p.?" "16i"
"0001009115" "00001847" "50" "2588" "-706" "2588" "-706" "c.2588-706C>T" "r.2587_2588ins2588-839_2588-708" "p.Gly863AlafsTer3" "16i"
"0001009116" "00001847" "30" "2588" "-12" "2588" "-12" "c.2588-12C>G" "r.=" "p.(=)" "16i"
"0001009117" "00001847" "50" "2588" "-7" "2588" "-5" "c.2588-7_2588-5delinsGG" "r.(?)" "p.?" "16i"
"0001009118" "00001847" "50" "2588" "0" "2588" "0" "c.2588G>A" "r.spl?" "p.(Gly863Glu)" "17"
"0001009119" "00001847" "90" "2593" "0" "2593" "0" "c.2593dup" "r.(?)" "p.(Tyr865LeufsTer20)" "17"
"0001009120" "00001847" "90" "2594" "0" "2595" "0" "c.2594_2595del" "r.(?)" "p.(Tyr865TrpfsTer19)" "17"
"0001009121" "00001847" "90" "2603" "0" "2603" "0" "c.2603del" "r.(?)" "p.(Pro868HisfsTer33)" "17"
"0001009122" "00001847" "70" "2588" "-161" "2615" "0" "c.2588-161_2615del" "r.(?)" "p.?" "16i_17"
"0001009123" "00001847" "90" "2613" "0" "2613" "0" "c.2613G>A" "r.(?)" "p.(Trp871Ter)" "17"
"0001009124" "00001847" "90" "2616" "0" "2616" "0" "c.2616del" "r.(?)" "p.(Leu874PhefsTer27)" "17"
"0001009125" "00001847" "50" "2617" "0" "2617" "0" "c.2617T>A" "r.(?)" "p.(Phe873Ile)" "17"
"0001009126" "00001847" "50" "2619" "0" "2619" "0" "c.2619T>V" "r.(?)" "p.(Phe873Xaa)" "17"
"0001009127" "00001847" "90" "2626" "0" "2626" "0" "c.2626C>T" "r.(?)" "p.(Gln876Ter)" "17"
"0001009128" "00001847" "50" "2627" "0" "2627" "0" "c.2627A>C" "r.(?)" "p.(Gln876Pro)" "17"
"0001009129" "00001847" "90" "2633" "0" "2633" "0" "c.2633C>A" "r.(?)" "p.(Ser878Ter)" "17"
"0001009130" "00001847" "90" "2637" "0" "2638" "0" "c.2637_2638del" "r.2637_2638del" "p.Tyr879Ter" "17"
"0001009131" "00001847" "50" "2647" "0" "2647" "0" "c.2647G>A" "r.(?)" "p.(Gly883Ser)" "17"
"0001009132" "00001847" "50" "2654" "-8" "2654" "-8" "c.2654-8T>G" "r.[2653_2654ins2654-40_2654-1,=]" "p.[Gly863ValfsTer47,=]" "17i"
"0001009133" "00001847" "90" "2657" "0" "2657" "0" "c.2657del" "r.(?)" "p.(Cys886PhefsTer15)" "18"
"0001009134" "00001847" "90" "2680" "0" "2680" "0" "c.2680dup" "r.(?)" "p.(Leu894ProfsTer26)" "18"
"0001009135" "00001847" "90" "2691" "0" "2691" "0" "c.2691del" "r.(?)" "p.(Glu898SerfsTer3)" "18"
"0001009136" "00001847" "50" "2692" "0" "2692" "0" "c.2692G>A" "r.(?)" "p.(Glu898Lys)" "18"
"0001009137" "00001847" "90" "2692" "0" "2692" "0" "c.2692G>T" "r.(?)" "p.(Glu898Ter)" "18"
"0001009138" "00001847" "90" "2731" "0" "2732" "0" "c.2731_2732del" "r.(?)" "p.(Glu911ArgfsTer8)" "18"
"0001009139" "00001847" "90" "2694" "0" "2736" "0" "c.2694_2736del" "r.(?)" "p.(Pro899TyrfsTer19)" "18"
"0001009140" "00001847" "70" "2743" "0" "2743" "0" "c.2743G>A" "r.spl?" "p.(Asp915Asn,?)" "18"
"0001009141" "00001847" "30" "2743" "12" "2743" "12" "c.2743+12A>C" "r.(?)" "p.?" "18i"
"0001009142" "00001847" "30" "2744" "-5" "2744" "-5" "c.2744-5C>T" "r.spl?" "p.?" "18i"
"0001009143" "00001847" "90" "2750" "0" "2750" "0" "c.2750del" "r.(?)" "p.(Phe917SerfsTer15)" "19"
"0001009144" "00001847" "50" "2757" "0" "2757" "0" "c.2757A>C" "r.(?)" "p.(Glu919Asp)" "19"
"0001009145" "00001847" "30" "2759" "0" "2759" "0" "c.2759G>A" "r.(?)" "p.(Arg920His)" "19"
"0001009146" "00001847" "90" "2768" "0" "2768" "0" "c.2768del" "r.(?)" "p.(Pro923GlnfsTer9)" "19"
"0001009147" "00001847" "90" "2774" "0" "2774" "0" "c.2774G>A" "r.(?)" "p.(Trp925Ter)" "19"
"0001009148" "00001847" "50" "2779" "0" "2779" "0" "c.2779C>T" "r.(?)" "p.(Pro927Ser)" "19"
"0001009149" "00001847" "90" "2785" "0" "2785" "0" "c.2785dup" "r.(?)" "p.(Val929GlyfsTer11)" "19"
"0001009150" "00001847" "50" "2791" "0" "2791" "0" "c.2791G>T" "r.(?)" "p.(Val931Leu)" "19"
"0001009151" "00001847" "50" "2800" "0" "2803" "0" "c.2800_2803delinsT" "r.(?)" "p.(Val935del)" "19"
"0001009152" "00001847" "90" "2815" "0" "2815" "0" "c.2815G>T" "r.(?)" "p.(Glu939Ter)" "19"
"0001009153" "00001847" "30" "2823" "0" "2823" "0" "c.2823T>C" "r.(=)" "p.(Cys941=)" "19"
"0001009154" "00001847" "50" "2840" "0" "2840" "0" "c.2840A>G" "r.(?)" "p.(Asp947Gly)" "19"
"0001009155" "00001847" "50" "2842" "0" "2842" "0" "c.2842C>T" "r.(?)" "p.(Arg948Cys)" "19"
"0001009156" "00001847" "50" "2845" "0" "2845" "0" "c.2845C>G" "r.(?)" "p.(Leu949Val)" "19"
"0001009157" "00001847" "70" "2846" "0" "2846" "0" "c.2846T>G" "r.(?)" "p.(Leu949Arg)" "19"
"0001009158" "00001847" "50" "2861" "0" "2861" "0" "c.2861A>G" "r.(?)" "p.(Tyr954Cys)" "19"
"0001009159" "00001847" "50" "2863" "0" "2863" "0" "c.2863G>A" "r.(?)" "p.(Glu955Lys)" "19"
"0001009160" "00001847" "50" "2868" "0" "2868" "0" "c.2868C>A" "r.(?)" "p.(Asn956Lys)" "19"
"0001009161" "00001847" "70" "2870" "0" "2870" "0" "c.2870A>C" "r.(?)" "p.(Gln957Pro)" "19"
"0001009162" "00001847" "50" "2857" "0" "2877" "0" "c.2857_2877del" "r.(?)" "p.(Phe953_Thr959del)" "19"
"0001009163" "00001847" "50" "2875" "0" "2875" "0" "c.2875A>T" "r.(?)" "p.(Thr959Ser)" "19"
"0001009164" "00001847" "30" "2877" "0" "2877" "0" "c.2877C>T" "r.(?)" "p.(Thr959=)" "19"
"0001009165" "00001847" "50" "2878" "0" "2878" "0" "c.2878G>A" "r.(?)" "p.(Ala960Thr)" "19"
"0001009166" "00001847" "90" "2879" "0" "2879" "0" "c.2879del" "r.(?)" "p.(Ala960AspfsTer17)" "19"
"0001009167" "00001847" "50" "2887" "0" "2887" "0" "c.2887G>C" "r.(?)" "p.(Gly963Arg)" "19"
"0001009168" "00001847" "50" "2888" "0" "2888" "0" "c.2888G>T" "r.(?)" "p.(Gly963Val)" "19"
"0001009169" "00001847" "70" "2897" "0" "2897" "0" "c.2897G>A" "r.(?)" "p.(Gly966Glu)" "19"
"0001009170" "00001847" "70" "2900" "0" "2900" "0" "c.2900C>T" "r.(?)" "p.(Ala967Val)" "19"
"0001009171" "00001847" "50" "2903" "0" "2903" "0" "c.2903G>A" "r.(?)" "p.(Gly968Glu)" "19"
"0001009172" "00001847" "50" "2903" "0" "2903" "0" "c.2903G>C" "r.(?)" "p.(Gly968Ala)" "19"
"0001009173" "00001847" "50" "2905" "0" "2905" "0" "c.2905A>G" "r.(?)" "p.(Lys969Glu)" "19"
"0001009174" "00001847" "50" "2908" "0" "2908" "0" "c.2908A>C" "r.(?)" "p.(Thr970Pro)" "19"
"0001009175" "00001847" "50" "2908" "0" "2908" "0" "c.2908A>G" "r.(?)" "p.(Thr970Ala)" "19"
"0001009176" "00001847" "70" "2914" "0" "2914" "0" "c.2914A>C" "r.(?)" "p.(Thr972Pro)" "19"
"0001009177" "00001847" "50" "2915" "0" "2915" "0" "c.2915C>T" "r.(?)" "p.(Thr972Ile)" "19"
"0001009178" "00001847" "50" "2918" "0" "2918" "0" "c.2918T>C" "r.spl?" "p.(Leu973Ser)" "19"
"0001009179" "00001847" "50" "2918" "5" "2918" "5" "c.2918+5G>A" "r.spl?" "p.?" "19i"
"0001009180" "00001847" "30" "2918" "1060" "2918" "1060" "c.2918+1060G>T" "r.(?)" "p.?" "19i"
"0001009181" "00001847" "50" "2919" "-884" "2919" "-884" "c.2919-884G>T" "r.[2918_2919ins2919-957_2919-886,=]" "p.[Phe973LeufsTer3,=]" "19i"
"0001009182" "00001847" "50" "2919" "-826" "2919" "-826" "c.2919-826T>A" "r.[2918_2919ins2919-957_2919-825,=]" "p.[Leu973PhefsTer1,=]" "19i"
"0001009183" "00001847" "30" "2919" "-383" "2919" "-383" "c.2919-383C>T" "r.(?)" "p.?" "19i"
"0001009184" "00001847" "50" "2919" "-169" "2919" "-169" "c.2919-169T>G" "r.[=,2918_2919ins[2919-323_2919-168;g]]" "p.[(=,Ser974LeufsTer5)]" "19i"
"0001009185" "00001847" "30" "2919" "-10" "2919" "-10" "c.2919-10T>C" "r.[2919_3050del,=]" "p.[Leu973_His1017delinsPhe,=]" "19i"
"0001009186" "00001847" "90" "2919" "0" "2920" "0" "c.2919_2920insGCCAAACACAG" "r.spl?" "p.(Ser974AlafsTer7)" "20"
"0001009187" "00001847" "50" "2924" "0" "2924" "0" "c.2924T>C" "r.(?)" "p.(Ile975Thr)" "20"
"0001009188" "00001847" "50" "2923" "0" "2924" "0" "c.2923_2924insAACACAGGTCCA" "r.(?)" "p.(Ser974_Ile975insLysHisArgSer)" "20"
"0001009189" "00001847" "50" "2930" "0" "2930" "0" "c.2930C>T" "r.(?)" "p.(Thr977Met)" "20"
"0001009190" "00001847" "30" "2931" "0" "2931" "0" "c.2931G>A" "r.(?)" "p.(Thr977=)" "20"
"0001009191" "00001847" "50" "2932" "0" "2932" "0" "c.2932G>A" "r.(?)" "p.(Gly978Ser)" "20"
"0001009192" "00001847" "50" "2940" "0" "2940" "0" "c.2940G>C" "r.(?)" "p.(Leu980Phe)" "20"
"0001009193" "00001847" "50" "2954" "0" "2954" "0" "c.2954G>T" "r.(?)" "p.(Gly985Val)" "20"
"0001009194" "00001847" "50" "2960" "0" "2960" "0" "c.2960T>G" "r.(?)" "p.(Val987Gly)" "20"
"0001009195" "00001847" "50" "2963" "0" "2963" "0" "c.2963T>C" "r.(?)" "p.(Leu988Pro)" "20"
"0001009196" "00001847" "50" "2965" "0" "2965" "0" "c.2965G>A" "r.(?)" "p.(Val989Ile)" "20"
"0001009197" "00001847" "90" "2967" "0" "2967" "0" "c.2967dup" "r.(?)" "p.(Gly990TrpfsTer6)" "20"
"0001009198" "00001847" "30" "2970" "0" "2970" "0" "c.2970G>A" "r.(?)" "p.(Gly990=)" "20"
"0001009199" "00001847" "30" "2974" "0" "2974" "0" "c.2974A>C" "r.(?)" "p.(Arg992=)" "20"
"0001009200" "00001847" "50" "2980" "0" "2980" "0" "c.2980A>G" "r.(?)" "p.(Ile994Val)" "20"
"0001009201" "00001847" "90" "2992" "0" "2992" "0" "c.2992dup" "r.(?)" "p.(Leu998ProfsTer25)" "20"
"0001009202" "00001847" "90" "2996" "0" "2996" "0" "c.2996del" "r.(?)" "p.(Asp999ValfsTer32)" "20"
"0001009203" "00001847" "90" "3007" "0" "3007" "0" "c.3007dup" "r.(?)" "p.(Gln1003ProfsTer20)" "20"
"0001009204" "00001847" "70" "3015" "0" "3015" "0" "c.3015del" "r.(?)" "p.(Gly1006AlafsTer25)" "20"
"0001009205" "00001847" "50" "3017" "0" "3017" "0" "c.3017G>A" "r.(?)" "p.(Gly1006Asp)" "20"
"0001009206" "00001847" "50" "3017" "0" "3017" "0" "c.3017G>T" "r.(?)" "p.(Gly1006Val)" "20"
"0001009207" "00001847" "70" "3027" "0" "3027" "0" "c.3027del" "r.(?)" "p.(Gln1010SerfsTer21)" "20"
"0001009208" "00001847" "90" "3028" "0" "3028" "0" "c.3028C>T" "r.(?)" "p.(Gln1010Ter)" "20"
"0001009209" "00001847" "70" "3035" "0" "3037" "0" "c.3035_3037del" "r.(?)" "p.(Asn1012del)" "20"
"0001009210" "00001847" "50" "3043" "0" "3043" "0" "c.3043T>A" "r.(?)" "p.(Phe1015Ile)" "20"
"0001009211" "00001847" "50" "3043" "0" "3043" "0" "c.3043T>S" "r.(?)" "p.(Phe1015X)" "20"
"0001009212" "00001847" "70" "3050" "1" "3050" "1" "c.3050+1G>A" "r.spl" "p.?" "20i"
"0001009213" "00001847" "50" "3050" "370" "3050" "370" "c.3050+370C>T" "r.3050_3051ins3050+164_3050+368" "p.Leu1018GlufsTer4" "20i"
"0001009214" "00001847" "50" "3051" "-35" "3051" "-17" "c.3051-35_3051-17del" "r.spl?" "p.?" "20i"
"0001009215" "00001847" "50" "3051" "-16" "3051" "-16" "c.3051-16T>A" "r.spl?" "p.?" "20i"
"0001009216" "00001847" "30" "3051" "-14" "3051" "-14" "c.3051-14T>A" "r.spl?" "p.?" "20i"
"0001009217" "00001847" "90" "3051" "-2" "3051" "-2" "c.3051-2A>G" "r.spl" "p.?" "20i"
"0001009218" "00001847" "90" "3051" "-1" "3051" "-1" "c.3051-1G>A" "r.spl" "p.?" "20i"
"0001009219" "00001847" "50" "3059" "0" "3059" "0" "c.3059T>A" "r.(?)" "p.(Val1020Glu)" "21"
"0001009220" "00001847" "70" "3071" "0" "3071" "0" "c.3071T>A" "r.(?)" "p.(Met1024Lys)" "21"
"0001009221" "00001847" "50" "3076" "0" "3076" "0" "c.3076T>C" "r.(?)" "p.(Phe1026Leu)" "21"
"0001009222" "00001847" "50" "3080" "0" "3080" "0" "c.3080A>G" "r.(?)" "p.(Tyr1027Cys)" "21"
"0001009223" "00001847" "90" "3081" "0" "3081" "0" "c.3081T>G" "r.(?)" "p.(Tyr1027Ter)" "21"
"0001009224" "00001847" "50" "3083" "0" "3083" "0" "c.3083C>A" "r.(3083c>a)" "p.(Ala1028Asp)" "21"
"0001009225" "00001847" "50" "3086" "0" "3086" "0" "c.3086A>C" "r.(?)" "p.(Gln1029Pro)" "21"
"0001009226" "00001847" "70" "3089" "0" "3089" "0" "c.3089T>A" "r.(?)" "p.(Leu1030Gln)" "21"
"0001009227" "00001847" "50" "3089" "0" "3089" "0" "c.3089T>G" "r.(?)" "p.(Leu1030Arg)" "21"
"0001009228" "00001847" "90" "3093" "0" "3093" "0" "c.3093del" "r.(?)" "p.(Gly1032GlufsTer52)" "21"
"0001009229" "00001847" "50" "3094" "0" "3094" "0" "c.3094G>C" "r.(?)" "p.(Gly1032Arg)" "21"
"0001009230" "00001847" "50" "3096" "0" "3096" "0" "c.3096A>T" "r.(?)" "p.(Gly1032=)" "21"
"0001009231" "00001847" "90" "3098" "0" "3098" "0" "c.3098del" "r.(?)" "p.(Lys1033SerfsTer51)" "21"
"0001009232" "00001847" "50" "3097" "0" "3097" "0" "c.3097A>G" "r.(?)" "p.(Lys1033Glu)" "21"
"0001009233" "00001847" "90" "3104" "0" "3104" "0" "c.3104del" "r.(?)" "p.(Gln1035ArgfsTer49)" "21"
"0001009234" "00001847" "50" "3117" "0" "3117" "0" "c.3117G>C" "r.(?)" "p.(Gln1039His)" "21"
"0001009235" "00001847" "50" "3119" "0" "3119" "0" "c.3119T>C" "r.(?)" "p.(Leu1040Pro)" "21"
"0001009236" "00001847" "50" "3134" "0" "3134" "0" "c.3134T>C" "r.(?)" "p.(Met1045Thr)" "21"
"0001009237" "00001847" "90" "3134" "0" "3135" "0" "c.3134_3135insA" "r.(?)" "p.(Met1045IlefsTer13)" "21"
"0001009238" "00001847" "50" "3137" "0" "3137" "0" "c.3137T>G" "r.(?)" "p.(Leu1046Trp)" "21"
"0001009239" "00001847" "50" "3138" "0" "3138" "0" "c.3138G>T" "r.(?)" "p.(Leu1046Phe)" "21"
"0001009240" "00001847" "50" "3164" "0" "3164" "0" "c.3164G>A" "r.(?)" "p.(Arg1055Gln)" "21"
"0001009241" "00001847" "90" "3178" "0" "3178" "0" "c.3178C>T" "r.(?)" "p.(Gln1060Ter)" "21"
"0001009242" "00001847" "50" "3179" "0" "3179" "0" "c.3179A>C" "r.(?)" "p.(Gln1060Pro)" "21"
"0001009243" "00001847" "50" "3184" "0" "3184" "0" "c.3184C>A" "r.(?)" "p.(Leu1062Ile)" "21"
"0001009244" "00001847" "50" "3173" "0" "3189" "0" "c.3173_3189delinsGTTGT" "r.spl?" "p.(Glu1058_Ser1063delinsGlyCys)" "21"
"0001009245" "00001847" "70" "3190" "0" "3190" "0" "c.3190G>C" "r.spl?" "p.(Gly1064Arg,?)" "21"
"0001009246" "00001847" "90" "3190" "1" "3190" "1" "c.3190+1G>C" "r.spl" "p.?" "21i"
"0001009247" "00001847" "30" "3190" "21" "3190" "21" "c.3190+21A>G" "r.spl?" "p.?" "21i"
"0001009248" "00001847" "30" "3191" "-19" "3191" "-19" "c.3191-19G>A" "r.=" "p.(=)" "21i"
"0001009249" "00001847" "50" "3191" "-11" "3191" "-11" "c.3191-11T>A" "r.3190_3191ins3191-1_3191-9" "p.Gly1064delinsValProProGly" "21i"
"0001009250" "00001847" "90" "3191" "-2" "3191" "0" "c.3191-2_3191del" "r.spl" "p.?" "21i_22"
"0001009251" "00001847" "70" "3194" "0" "3194" "0" "c.3194G>A" "r.(?)" "p.(Gly1065Asp)" "22"
"0001009252" "00001847" "70" "3197" "0" "3197" "0" "c.3197T>G" "r.(?)" "p.(Met1066Arg)" "22"
"0001009253" "00001847" "50" "3204" "0" "3204" "0" "c.3204A>T" "r.(?)" "p.(Arg1068Ser)" "22"
"0001009254" "00001847" "50" "3205" "0" "3205" "0" "c.3205A>C" "r.(?)" "p.(Lys1069Gln)" "22"
"0001009255" "00001847" "30" "3210" "0" "3210" "0" "c.3210G>C" "r.(?)" "p.(Leu1070=)" "22"
"0001009256" "00001847" "50" "3211" "0" "3211" "0" "c.3211T>C" "r.(?)" "p.(Ser1071Pro)" "22"
"0001009257" "00001847" "90" "3210" "0" "3211" "0" "c.3210_3211insGT" "r.(?)" "p.(Ser1071ValfsTer14)" "22"
"0001009258" "00001847" "90" "3212" "0" "3212" "0" "c.3212C>A" "r.(?)" "p.(Ser1071Ter)" "22"
"0001009259" "00001847" "30" "3213" "0" "3213" "0" "c.3213G>A" "r.(?)" "p.(Ser1071=)" "22"
"0001009260" "00001847" "30" "3220" "0" "3220" "0" "c.3220A>C" "r.(?)" "p.(Ile1074Leu)" "22"
"0001009261" "00001847" "50" "3224" "0" "3224" "0" "c.3224C>A" "r.(?)" "p.(Ala1075Asp)" "22"
"0001009262" "00001847" "50" "3236" "0" "3236" "0" "c.3236A>T" "r.(?)" "p.(Asp1079Val)" "22"
"0001009263" "00001847" "50" "3241" "0" "3241" "0" "c.3241A>G" "r.(?)" "p.(Lys1081Glu)" "22"
"0001009264" "00001847" "50" "3243" "0" "3243" "0" "c.3243G>T" "r.(?)" "p.(Lys1081Asn)" "22"
"0001009265" "00001847" "50" "3251" "0" "3251" "0" "c.3251T>C" "r.(?)" "p.(Ile1084Thr)" "22"
"0001009266" "00001847" "50" "3260" "0" "3260" "0" "c.3260A>G" "r.(?)" "p.(Glu1087Gly)" "22"
"0001009267" "00001847" "70" "3262" "0" "3262" "0" "c.3262C>A" "r.(?)" "p.(Pro1088Thr)" "22"
"0001009268" "00001847" "50" "3262" "0" "3262" "0" "c.3262C>T" "r.(?)" "p.(Pro1088Ser)" "22"
"0001009269" "00001847" "50" "3274" "0" "3274" "0" "c.3274G>T" "r.(?)" "p.(Val1092Leu)" "22"
"0001009270" "00001847" "90" "3277" "0" "3277" "0" "c.3277G>A" "r.(?)" "p.(Asp1093Asn)" "22"
"0001009271" "00001847" "50" "3278" "0" "3278" "0" "c.3278A>C" "r.(?)" "p.(Asp1093Ala)" "22"
"0001009272" "00001847" "70" "3278" "0" "3278" "0" "c.3278A>G" "r.(?)" "p.(Asp1093Gly)" "22"
"0001009273" "00001847" "90" "3281" "0" "3281" "0" "c.3281del" "r.(?)" "p.(Pro1094LeufsTer12)" "22"
"0001009274" "00001847" "50" "3280" "0" "3280" "0" "c.3280C>A" "r.(?)" "p.(Pro1094Thr)" "22"
"0001009275" "00001847" "30" "3285" "0" "3285" "0" "c.3285C>T" "r.(?)" "p.(Tyr1095=)" "22"
"0001009276" "00001847" "90" "3296" "0" "3296" "0" "c.3296C>G" "r.(?)" "p.(Ser1099Ter)" "22"
"0001009277" "00001847" "50" "3299" "0" "3299" "0" "c.3299T>C" "r.(?)" "p.(Ile1100Thr)" "22"
"0001009278" "00001847" "90" "3302" "0" "3302" "0" "c.3302G>A" "r.(?)" "p.(Trp1101Ter)" "22"
"0001009279" "00001847" "90" "3304" "0" "3304" "0" "c.3304G>T" "r.(?)" "p.(Asp1102Tyr)" "22"
"0001009280" "00001847" "50" "3305" "0" "3305" "0" "c.3305A>C" "r.(?)" "p.(Asp1102Ala)" "22"
"0001009281" "00001847" "50" "3308" "0" "3308" "0" "c.3308T>C" "r.(?)" "p.(Leu1103Pro)" "22"
"0001009282" "00001847" "70" "3311" "0" "3311" "0" "c.3311T>C" "r.(?)" "p.(Leu1104Pro)" "22"
"0001009283" "00001847" "90" "3315" "0" "3315" "0" "c.3315del" "r.(?)" "p.(Lys1106SerfsTer42)" "22"
"0001009284" "00001847" "90" "3323" "0" "3323" "0" "c.3323del" "r.(?)" "p.(Arg1108ProfsTer40)" "22"
"0001009285" "00001847" "90" "3323" "0" "3323" "0" "c.3323G>T" "r.(?)" "p.(Arg1108Leu)" "22"
"0001009286" "00001847" "90" "3328" "1" "3328" "1" "c.3328+1G>A" "r.spl" "p.?" "22i"
"0001009287" "00001847" "90" "3328" "1" "3328" "1" "c.3328+1G>C" "r.spl" "p.?" "22i"
"0001009288" "00001847" "90" "3328" "0" "3328" "1" "c.3328_3328+1delinsAA" "r.spl" "p.?" "22_22i"
"0001009289" "00001847" "90" "3328" "2" "3328" "2" "c.3328+2T>A" "r.spl" "p.?" "22i"
"0001009290" "00001847" "70" "2999" "0" "3328" "610" "c.2999_3328+610del" "r.spl" "p.?" "20_22i"
"0001009291" "00001847" "70" "2918" "775" "3328" "640" "c.2918+775_3328+640del" "r.spl" "p.?" "19i_22i"
"0001009292" "00001847" "30" "3329" "-17" "3329" "-17" "c.3329-17T>G" "r.spl?" "p.?" "22i"
"0001009293" "00001847" "50" "3329" "-11" "3329" "-11" "c.3329-11C>T" "r.spl?" "p.?" "22i"
"0001009294" "00001847" "50" "3329" "-3" "3329" "-3" "c.3329-3C>G" "r.spl?" "p.?" "22i"
"0001009295" "00001847" "50" "3329" "-2" "3329" "-2" "c.3329-2A>T" "r.spl" "p.?" "22i"
"0001009296" "00001847" "70" "3329" "-1" "3329" "-1" "c.3329-1G>A" "r.spl" "p.?" "22i"
"0001009297" "00001847" "50" "3329" "0" "3329" "0" "c.3329G>T" "r.spl?" "p.(Gly1110Val)" "23"
"0001009298" "00001847" "30" "3330" "0" "3330" "0" "c.3330C>A" "r.spl?" "p.(Gly1110=)" "23"
"0001009299" "00001847" "50" "3334" "0" "3334" "0" "c.3334A>G" "r.(?)" "p.(Thr1112Ala)" "23"
"0001009300" "00001847" "90" "3342" "0" "3342" "0" "c.3342del" "r.(?)" "p.(Met1115CysfsTer33)" "23"
"0001009301" "00001847" "50" "3344" "0" "3344" "0" "c.3344T>C" "r.(?)" "p.(Met1115Thr)" "23"
"0001009302" "00001847" "50" "3342" "0" "3344" "0" "c.3342_3344del" "r.(?)" "p.(Ile1114del)" "23"
"0001009303" "00001847" "90" "3334" "0" "3346" "0" "c.3334_3346del" "r.(?)" "p.(Thr1112ProfsTer32)" "23"
"0001009304" "00001847" "50" "3347" "0" "3347" "0" "c.3347C>T" "r.(?)" "p.(Ser1116Phe)" "23"
"0001009305" "00001847" "50" "3349" "0" "3349" "0" "c.3349A>G" "r.(?)" "p.(Thr1117Ala)" "23"
"0001009306" "00001847" "50" "3352" "0" "3352" "0" "c.3352C>G" "r.(?)" "p.(His1118Asp)" "23"
"0001009307" "00001847" "90" "3364" "0" "3364" "0" "c.3364G>T" "r.(?)" "p.(Glu1122Ter)" "23"
"0001009308" "00001847" "70" "3377" "0" "3377" "0" "c.3377T>A" "r.(?)" "p.(Leu1126His)" "23"
"0001009309" "00001847" "70" "3377" "0" "3377" "0" "c.3377T>G" "r.(?)" "p.(Leu1126Arg)" "23"
"0001009310" "00001847" "70" "3379" "0" "3379" "0" "c.3379G>A" "r.(?)" "p.(Gly1127Arg)" "23"
"0001009311" "00001847" "70" "3383" "0" "3383" "0" "c.3383A>G" "r.(?)" "p.(Asp1128Gly)" "23"
"0001009312" "00001847" "70" "3389" "0" "3389" "0" "c.3389T>C" "r.(?)" "p.(Ile1130Thr)" "23"
"0001009313" "00001847" "50" "3395" "0" "3395" "0" "c.3395T>C" "r.(?)" "p.(Ile1132Thr)" "23"
"0001009314" "00001847" "90" "3403" "0" "3403" "0" "c.3403C>T" "r.(?)" "p.(Gln1135Ter)" "23"
"0001009315" "00001847" "70" "3407" "0" "3407" "0" "c.3407G>A" "r.(?)" "p.(Gly1136Glu)" "23"
"0001009316" "00001847" "50" "3407" "0" "3407" "0" "c.3407G>T" "r.(?)" "p.(Gly1136Val)" "23"
"0001009317" "00001847" "50" "3409" "0" "3409" "0" "c.3409A>G" "r.(?)" "p.(Arg1137Gly)" "23"
"0001009318" "00001847" "90" "3413" "0" "3413" "0" "c.3413T>A" "r.(?)" "p.(Leu1138His)" "23"
"0001009319" "00001847" "30" "3414" "0" "3414" "0" "c.3414C>G" "r.(?)" "p.(Leu1138=)" "23"
"0001009320" "00001847" "30" "3416" "0" "3416" "0" "c.3416A>G" "r.(?)" "p.(Tyr1139Cys)" "23"
"0001009321" "00001847" "90" "3420" "0" "3420" "0" "c.3420C>G" "r.(?)" "p.(Cys1140Trp)" "23"
"0001009322" "00001847" "50" "3428" "0" "3428" "0" "c.3428C>A" "r.(?)" "p.(Thr1143Asn)" "23"
"0001009323" "00001847" "50" "3462" "0" "3462" "0" "c.3462C>T" "r.(?)" "p.(Gly1154=)" "23"
"0001009324" "00001847" "90" "3468" "0" "3468" "0" "c.3468C>G" "r.(?)" "p.(Tyr1156Ter)" "23"
"0001009325" "00001847" "30" "3468" "0" "3468" "0" "c.3468C>T" "r.(?)" "p.(Tyr1156=)" "23"
"0001009326" "00001847" "90" "3470" "0" "3470" "0" "c.3470T>G" "r.(?)" "p.(Leu1157Ter)" "23"
"0001009327" "00001847" "70" "3476" "0" "3476" "0" "c.3476T>C" "r.(?)" "p.(Leu1159Ser)" "23"
"0001009328" "00001847" "50" "3481" "0" "3481" "0" "c.3481C>T" "r.(?)" "p.(Arg1161Cys)" "23"
"0001009329" "00001847" "70" "3482" "0" "3482" "0" "c.3482G>A" "r.(?)" "p.(Arg1161His)" "23"
"0001009330" "00001847" "50" "3482" "0" "3482" "0" "c.3482G>T" "r.(?)" "p.(Arg1161Leu)" "23"
"0001009331" "00001847" "90" "3499" "0" "3499" "0" "c.3499del" "r.(?)" "p.(Gln1167ArgfsTer29)" "23"
"0001009332" "00001847" "90" "3522" "1" "3522" "1" "c.3522+1G>A" "r.spl" "p.?" "23i"
"0001009333" "00001847" "70" "3522" "1" "3522" "1" "c.3522+1G>T" "r.spl" "p.?" "23i"
"0001009334" "00001847" "50" "3522" "6" "3522" "6" "c.3522+6T>C" "r.spl?" "p.?" "23i"
"0001009335" "00001847" "30" "3523" "-28" "3523" "-28" "c.3523-28T>C" "r.(?)" "p.(=)" "23i"
"0001009336" "00001847" "90" "3523" "-2" "3523" "-2" "c.3523-2A>G" "r.spl" "p.?" "23i"
"0001009337" "00001847" "90" "3525" "0" "3525" "0" "c.3525del" "r.(?)" "p.(Thr1176ProfsTer20)" "24"
"0001009338" "00001847" "90" "3531" "0" "3531" "0" "c.3531del" "r.(?)" "p.(Cys1177Ter)" "24"
"0001009339" "00001847" "30" "3540" "0" "3540" "0" "c.3540G>A" "r.(?)" "p.(Ser1180=)" "24"
"0001009340" "00001847" "30" "3547" "0" "3547" "0" "c.3547G>T" "r.(?)" "p.(Gly1183Cys)" "24"
"0001009341" "00001847" "90" "3554" "0" "3555" "0" "c.3554_3555delinsGA" "r.(?)" "p.(Ser1185Ter)" "24"
"0001009342" "00001847" "30" "3582" "0" "3582" "0" "c.3582C>A" "r.(?)" "p.(Asp1194Glu)" "24"
"0001009343" "00001847" "90" "3584" "0" "3585" "0" "c.3584_3585insGT" "r.(?)" "p.(Thr1196Ter)" "24"
"0001009344" "00001847" "70" "3583" "0" "3584" "0" "c.3583_3584insGT" "r.(?)" "p.(Leu1195ArgfsTer2)" "24"
"0001009345" "00001847" "90" "3595" "0" "3595" "0" "c.3595C>T" "r.(?)" "p.(Gln1199Ter)" "24"
"0001009346" "00001847" "50" "3604" "0" "3604" "0" "c.3604G>A" "r.(?)" "p.(Asp1202Asn)" "24"
"0001009347" "00001847" "50" "3606" "0" "3606" "0" "c.3606T>A" "r.spl?" "p.(Asp1202Glu)" "24"
"0001009348" "00001847" "30" "3606" "0" "3606" "0" "c.3606T>C" "r.spl?" "p.(Asp1202=)" "24"
"0001009349" "00001847" "50" "3607" "0" "3607" "0" "c.3607G>T" "r.spl?" "p.(Gly1203Trp)" "24"
"0001009350" "00001847" "30" "3608" "-7" "3608" "-7" "c.3608-7G>A" "r.=" "p.(=)" "24i"
"0001009351" "00001847" "90" "3608" "-1" "3608" "-1" "c.3608-1G>C" "r.spl" "p.?" "24i"
"0001009352" "00001847" "50" "3610" "0" "3610" "0" "c.3610G>A" "r.spl?" "p.(Asp1204Asn)" "25"
"0001009353" "00001847" "50" "3623" "0" "3623" "0" "c.3623T>G" "r.(?)" "p.(Leu1208Arg)" "25"
"0001009354" "00001847" "30" "3625" "0" "3625" "0" "c.3625A>C" "r.(?)" "p.(Met1209Leu)" "25"
"0001009355" "00001847" "50" "3634" "0" "3634" "0" "c.3634G>T" "r.(?)" "p.(Val1212Phe)" "25"
"0001009356" "00001847" "70" "3642" "0" "3644" "0" "c.3642_3644del" "r.(?)" "p.(His1215del)" "25"
"0001009357" "00001847" "90" "3667" "0" "3667" "0" "c.3667dup" "r.(?)" "p.(Glu1223GlyfsTer14)" "25"
"0001009358" "00001847" "50" "3670" "0" "3670" "0" "c.3670T>G" "r.(?)" "p.(Cys1224Gly)" "25"
"0001009359" "00001847" "50" "3682" "0" "3682" "0" "c.3682G>A" "r.(?)" "p.(Glu1228Lys)" "25"
"0001009360" "00001847" "90" "3682" "0" "3682" "0" "c.3682G>T" "r.(?)" "p.(Glu1228Ter)" "25"
"0001009361" "00001847" "70" "3701" "0" "3701" "0" "c.3701C>T" "r.(?)" "p.(Pro1234Leu)" "25"
"0001009362" "00001847" "50" "3703" "0" "3703" "0" "c.3703A>G" "r.(?)" "p.(Asn1235Asp)" "25"
"0001009363" "00001847" "50" "3727" "0" "3727" "0" "c.3727T>G" "r.(?)" "p.(Tyr1243Asp)" "25"
"0001009364" "00001847" "50" "3730" "0" "3730" "0" "c.3730G>A" "r.(?)" "p.(Ala1244Thr)" "25"
"0001009365" "00001847" "50" "3734" "0" "3734" "0" "c.3734G>A" "r.(?)" "p.(Ser1245Asn)" "25"
"0001009366" "00001847" "90" "3752" "0" "3752" "0" "c.3752del" "r.(?)" "p.(Glu1251GlyfsTer24)" "25"
"0001009367" "00001847" "50" "3755" "0" "3755" "0" "c.3755A>T" "r.(?)" "p.(Glu1252Val)" "25"
"0001009368" "00001847" "30" "3759" "0" "3759" "0" "c.3759G>A" "r.(?)" "p.(Thr1253=)" "25"
"0001009369" "00001847" "90" "3767" "0" "3768" "0" "c.3767_3768dup" "r.(?)" "p.(Leu1257ThrfsTer19)" "25"
"0001009370" "00001847" "50" "3777" "0" "3777" "0" "c.3777C>G" "r.(?)" "p.(Leu1259=)" "25"
"0001009371" "00001847" "50" "3785" "0" "3785" "0" "c.3785T>C" "r.(?)" "p.(Phe1262Ser)" "25"
"0001009372" "00001847" "50" "3794" "0" "3794" "0" "c.3794C>G" "r.(?)" "p.(Ser1265Cys)" "25"
"0001009373" "00001847" "50" "3799" "0" "3799" "0" "c.3799A>G" "r.(?)" "p.(Thr1267Ala)" "25"
"0001009374" "00001847" "50" "3806" "0" "3806" "0" "c.3806T>C" "r.(?)" "p.(Leu1269Pro)" "25"
"0001009375" "00001847" "70" "3811" "0" "3811" "0" "c.3811G>C" "r.spl?" "p.(Glu1271Gln)" "25"
"0001009376" "00001847" "50" "3813" "0" "3813" "0" "c.3813G>A" "r.spl?" "p.(Glu1271=)" "25"
"0001009377" "00001847" "50" "3813" "0" "3813" "0" "c.3813G>T" "r.spl?" "p.(Glu1271Asp)" "25"
"0001009378" "00001847" "90" "3813" "1" "3813" "1" "c.3813+1G>A" "r.spl" "p.?" "25i"
"0001009379" "00001847" "70" "3813" "1" "3813" "1" "c.3813+1G>T" "r.spl" "p.?" "25i"
"0001009380" "00001847" "50" "3815" "0" "3815" "0" "c.3815T>C" "r.spl?" "p.(Ile1272Thr)" "26"
"0001009381" "00001847" "50" "3825" "0" "3825" "0" "c.3825G>C" "r.(?)" "p.(Lys1275Asn)" "26"
"0001009382" "00001847" "50" "3830" "0" "3830" "0" "c.3830C>T" "r.(?)" "p.(Thr1277Met)" "26"
"0001009383" "00001847" "90" "3832" "0" "3832" "0" "c.3832G>T" "r.(?)" "p.(Glu1278Ter)" "26"
"0001009384" "00001847" "70" "3862" "0" "3862" "0" "c.3862G>A" "r.[3863g>a,3814_3862del]" "p.[=,Gly1288Ser,Ile1272ValfsTer101]" "26"
"0001009385" "00001847" "30" "3863" "-1064" "3863" "-1064" "c.3863-1064A>G" "r.spl" "p.?" "26i"
"0001009386" "00001847" "50" "3863" "-14" "3863" "-14" "c.3863-14A>G" "r.(?)" "p.?" "26i"
"0001009387" "00001847" "50" "3876" "0" "3876" "0" "c.3876G>C" "r.(?)" "p.(Gln1292His)" "27"
"0001009388" "00001847" "90" "3883" "0" "3884" "0" "c.3883_3884del" "r.(?)" "p.(Glu1295LysfsTer126)" "27"
"0001009389" "00001847" "50" "3883" "0" "3883" "0" "c.3883G>A" "r.(?)" "p.(Glu1295Lys)" "27"
"0001009390" "00001847" "90" "3881" "0" "3885" "0" "c.3881_3885del" "r.(?)" "p.(Arg1294LysfsTer126)" "27"
"0001009391" "00001847" "30" "3900" "0" "3900" "0" "c.3900A>G" "r.(?)" "p.(Arg1300=)" "27"
"0001009392" "00001847" "90" "3938" "0" "3948" "0" "c.3938_3948delinsGGG" "r.(?)" "p.(Thr1313ArgfsTer106)" "27"
"0001009393" "00001847" "90" "3966" "0" "3966" "0" "c.3966del" "r.(?)" "p.(Ala1324ArgfsTer65)" "27"
"0001009394" "00001847" "70" "3986" "0" "3986" "0" "c.3986del" "r.(?)" "p.(Pro1329GlnfsTer60)" "27"
"0001009395" "00001847" "70" "3984" "0" "3987" "0" "c.3984_3987del" "r.(?)" "p.(His1328GlnfsTer60)" "27"
"0001009396" "00001847" "50" "3995" "0" "4018" "0" "c.3995_4018dup" "r.(?)" "p.(Gln1332_Cys1339dup)" "27"
"0001009397" "00001847" "50" "4030" "0" "4030" "0" "c.4030C>G" "r.(?)" "p.(Leu1344Val)" "27"
"0001009398" "00001847" "50" "4034" "0" "4034" "0" "c.4034A>G" "r.(?)" "p.(Asn1345Ser)" "27"
"0001009399" "00001847" "70" "4044" "0" "4044" "0" "c.4044dup" "r.(?)" "p.(Gln1349ThrfsTer73)" "27"
"0001009400" "00001847" "90" "4045" "0" "4045" "0" "c.4045C>T" "r.(?)" "p.(Gln1349Ter)" "27"
"0001009401" "00001847" "50" "4059" "0" "4059" "0" "c.4059G>C" "r.(?)" "p.(Gln1353His)" "27"
"0001009402" "00001847" "50" "4061" "0" "4061" "0" "c.4061A>C" "r.(?)" "p.(His1354Pro)" "27"
"0001009403" "00001847" "90" "4066" "0" "4066" "0" "c.4066C>T" "r.(?)" "p.(Gln1356Ter)" "27"
"0001009404" "00001847" "50" "4076" "0" "4076" "0" "c.4076T>C" "r.(?)" "p.(Leu1359Pro)" "27"
"0001009405" "00001847" "50" "4079" "0" "4079" "0" "c.4079T>C" "r.(?)" "p.(Val1360Ala)" "27"
"0001009406" "00001847" "50" "4092" "0" "4092" "0" "c.4092A>C" "r.(?)" "p.(Gln1364His)" "27"
"0001009407" "00001847" "90" "4111" "0" "4111" "0" "c.4111A>T" "r.(?)" "p.(Lys1371Ter)" "27"
"0001009408" "00001847" "50" "4113" "0" "4113" "0" "c.4113G>T" "r.(?)" "p.(Lys1371Asn)" "27"
"0001009409" "00001847" "70" "4124" "0" "4124" "0" "c.4124C>A" "r.(?)" "p.(Ala1375Glu)" "27"
"0001009410" "00001847" "90" "4126" "0" "4126" "0" "c.4126C>T" "r.spl?" "p.(Gln1376Ter)" "27"
"0001009411" "00001847" "70" "4128" "0" "4128" "0" "c.4128G>C" "r.4128_4129ins4128+1_4128+12" "p.Gln1376_Ile1377insValLeuLeuSer" "27"
"0001009412" "00001847" "70" "4128" "1" "4128" "1" "c.4128+1G>A" "r.spl" "p.?" "27i"
"0001009413" "00001847" "50" "4128" "1" "4128" "1" "c.4128+1G>T" "r.spl" "p.?" "27i"
"0001009414" "00001847" "50" "4128" "16" "4128" "16" "c.4128+16G>A" "r.(?)" "p.?" "27i"
"0001009415" "00001847" "30" "4129" "-17" "4129" "-17" "c.4129-17C>T" "r.(?)" "p.?" "27i"
"0001009416" "00001847" "50" "4129" "-3" "4129" "-3" "c.4129-3C>A" "r.(?)" "p.?" "27i"
"0001009417" "00001847" "50" "4129" "-3" "4129" "-3" "c.4129-3C>T" "r.[=,3864_4128del,4129_4253del,3864_4253del]" "p.[=,Ile1377HisfsTer3,Gly1288AspfsTer45]" "27i"
"0001009418" "00001847" "70" "4129" "-1" "4129" "-1" "c.4129-1G>A" "r.spl" "p.?" "27i"
"0001009419" "00001847" "30" "4140" "0" "4140" "0" "c.4140G>A" "r.(?)" "p.(Pro1380=)" "28"
"0001009420" "00001847" "90" "4157" "0" "4157" "0" "c.4157del" "r.(?)" "p.(Leu1386TrpfsTer3)" "28"
"0001009421" "00001847" "70" "4179" "0" "4179" "0" "c.4179del" "r.(?)" "p.(Ile1394SerfsTer10)" "28"
"0001009422" "00001847" "50" "4178" "0" "4178" "0" "c.4178T>C" "r.(?)" "p.(Val1393Ala)" "28"
"0001009423" "00001847" "50" "4178" "0" "4192" "0" "c.4178_4192del" "r.(?)" "p.(Val1393_Phe1397del)" "28"
"0001009424" "00001847" "90" "4193" "0" "4193" "0" "c.4193del" "r.(?)" "p.(Gly1398AlafsTer6)" "28"
"0001009425" "00001847" "70" "4203" "0" "4203" "0" "c.4203del" "r.(?)" "p.(Ala1402LeufsTer2)" "28"
"0001009426" "00001847" "10" "4203" "0" "4203" "0" "c.4203C>A" "r.(?)" "p.(Pro1401=)" "28"
"0001009427" "00001847" "90" "4204" "0" "4204" "0" "c.4204del" "r.(?)" "p.(Ala1402LeufsTer2)" "28"
"0001009428" "00001847" "50" "4216" "0" "4216" "0" "c.4216C>G" "r.(?)" "p.(His1406Asp)" "28"
"0001009429" "00001847" "90" "4216" "0" "4216" "0" "c.4216del" "r.(?)" "p.(His1406ThrfsTer30)" "28"
"0001009430" "00001847" "90" "4222" "0" "4222" "0" "c.4222del" "r.(?)" "p.(Trp1408GlyfsTer28)" "28"
"0001009431" "00001847" "70" "4224" "0" "4224" "0" "c.4224G>T" "r.(?)" "p.(Trp1408Cys)" "28"
"0001009432" "00001847" "50" "4231" "0" "4231" "0" "c.4231G>A" "r.(?)" "p.(Gly1411Arg)" "28"
"0001009433" "00001847" "90" "4228" "0" "4231" "0" "c.4228_4231dup" "r.(?)" "p.(Gly1411ValfsTer12)" "28"
"0001009434" "00001847" "90" "4237" "0" "4237" "0" "c.4237C>T" "r.(?)" "p.(Gln1413Ter)" "28"
"0001009435" "00001847" "50" "4253" "43" "4253" "43" "c.4253+43G>A" "r.[=,4129_4253del]" "p.[=,Ile1377HisfsTer3]" "28i"
"0001009436" "00001847" "30" "4254" "-41" "4254" "-41" "c.4254-41C>T" "r.(?)" "p.?" "28i"
"0001009437" "00001847" "50" "4254" "-15" "4254" "-15" "c.4254-15del" "r.spl?" "p.?" "28i"
"0001009438" "00001847" "50" "4254" "-1" "4254" "-1" "c.4254-1G>A" "r.spl" "p.?" "28i"
"0001009439" "00001847" "70" "4254" "-1" "4254" "-1" "c.4254-1G>C" "r.spl" "p.?" "28i"
"0001009440" "00001847" "70" "4254" "-1" "4254" "-1" "c.4254-1G>T" "r.spl" "p.?" "28i"
"0001009441" "00001847" "70" "4254" "0" "4254" "0" "c.4254C>A" "r.spl?" "p.(Ser1418Arg)" "28i"
"0001009442" "00001847" "90" "4254" "-15" "4261" "0" "c.4254-15_4261del" "r.(?)" "p.?" "28i"
"0001009443" "00001847" "50" "4269" "0" "4269" "0" "c.4269C>T" "r.(?)" "p.(Gly1423=)" "29"
"0001009444" "00001847" "90" "4276" "0" "4276" "0" "c.4276C>T" "r.(?)" "p.(Gln1426Ter)" "29"
"0001009445" "00001847" "90" "4288" "0" "4294" "0" "c.4288_4294del" "r.(?)" "p.(Leu1430ThrfsTer4)" "29"
"0001009446" "00001847" "50" "4307" "0" "4307" "0" "c.4307A>T" "r.(?)" "p.(Asn1436Ile)" "29"
"0001009447" "00001847" "50" "4313" "0" "4313" "0" "c.4313C>G" "r.(?)" "p.(Pro1438Arg)" "29"
"0001009448" "00001847" "70" "4316" "0" "4316" "0" "c.4316G>T" "r.(?)" "p.(Gly1439Val)" "29"
"0001009449" "00001847" "90" "4322" "0" "4322" "0" "c.4322del" "r.(?)" "p.(Gly1441AlafsTer5)" "29"
"0001009450" "00001847" "50" "4324" "0" "4324" "0" "c.4324A>G" "r.(?)" "p.(Asn1442Asp)" "29"
"0001009451" "00001847" "50" "4327" "0" "4327" "0" "c.4327C>T" "r.(?)" "p.(Arg1443Cys)" "29"
"0001009452" "00001847" "50" "4340" "0" "4340" "0" "c.4340A>T" "r.(?)" "p.(Glu1447Val)" "29"
"0001009453" "00001847" "50" "4342" "0" "4343" "0" "c.4342_4343delinsAA" "r.(?)" "p.(Gly1448Lys)" "29"
"0001009454" "00001847" "90" "4346" "0" "4346" "0" "c.4346G>A" "r.(?)" "p.(Trp1449Ter)" "29"
"0001009455" "00001847" "70" "4347" "0" "4347" "0" "c.4347G>T" "r.(?)" "p.(Trp1449Cys)" "29"
"0001009456" "00001847" "50" "4352" "1" "4352" "1" "c.4352+1G>T" "r.(?)" "p.?" "29i"
"0001009457" "00001847" "50" "4352" "4" "4352" "4" "c.4352+4A>C" "r.(?)" "p.?" "29i"
"0001009458" "00001847" "70" "4352" "5" "4352" "5" "c.4352+5G>A" "r.(?)" "p.?" "29i"
"0001009459" "00001847" "30" "4352" "13" "4352" "13" "c.4352+13G>A" "r.(?)" "p.?" "29i"
"0001009460" "00001847" "70" "4352" "61" "4352" "61" "c.4352+61G>A" "r.[4352_4353ins4352+1_4352+57,=]" "p.[Glu1452Ter,=]" "29i"
"0001009461" "00001847" "30" "4353" "-4" "4353" "-4" "c.4353-4T>C" "r.(?)" "p.?" "29i"
"0001009462" "00001847" "70" "4353" "-1" "4353" "-1" "c.4353-1G>A" "r.(?)" "p.?" "29i"
"0001009463" "00001847" "90" "4354" "0" "4354" "0" "c.4354G>T" "r.spl?" "p.(Glu1452Ter)" "30"
"0001009464" "00001847" "90" "4359" "0" "4359" "0" "c.4359C>A" "r.(?)" "p.(Tyr1453Ter)" "30"
"0001009465" "00001847" "90" "4363" "0" "4363" "0" "c.4363del" "r.(?)" "p.(Cys1455ValfsTer71)" "30"
"0001009466" "00001847" "70" "4383" "0" "4383" "0" "c.4383G>C" "r.(?)" "p.(Trp1461Cys)" "30"
"0001009467" "00001847" "90" "4387" "0" "4387" "0" "c.4387del" "r.(?)" "p.(Thr1463LeufsTer63)" "30"
"0001009468" "00001847" "50" "4402" "0" "4402" "0" "c.4402C>G" "r.(?)" "p.(Pro1468Ala)" "30"
"0001009469" "00001847" "30" "4407" "0" "4407" "0" "c.4407C>T" "r.(?)" "p.(Asn1469=)" "30"
"0001009470" "00001847" "50" "4426" "0" "4426" "0" "c.4426A>G" "r.(?)" "p.(Lys1476Glu)" "30"
"0001009471" "00001847" "90" "4429" "0" "4429" "0" "c.4429C>T" "r.(?)" "p.(Gln1477Ter)" "30"
"0001009472" "00001847" "90" "4436" "0" "4436" "0" "c.4436G>A" "r.(?)" "p.(Trp1479Ter)" "30"
"0001009473" "00001847" "90" "4437" "0" "4437" "0" "c.4437G>A" "r.(?)" "p.(Trp1479Ter)" "30"
"0001009474" "00001847" "50" "4446" "0" "4446" "0" "c.4446C>A" "r.(?)" "p.(Val1482=)" "30"
"0001009475" "00001847" "50" "4450" "0" "4450" "0" "c.4450C>T" "r.(?)" "p.(Pro1484Ser)" "30"
"0001009476" "00001847" "50" "4454" "0" "4454" "0" "c.4454C>T" "r.(?)" "p.(Ser1485Leu)" "30"
"0001009477" "00001847" "70" "4458" "0" "4458" "0" "c.4458del" "r.(?)" "p.(Ser1487ProfsTer39)" "30"
"0001009478" "00001847" "30" "4466" "0" "4466" "0" "c.4466G>A" "r.(?)" "p.(Arg1489Lys)" "30"
"0001009479" "00001847" "50" "4468" "0" "4468" "0" "c.4468T>C" "r.(?)" "p.(Cys1490Arg)" "30"
"0001009480" "00001847" "50" "4480" "0" "4480" "0" "c.4480G>A" "r.(?)" "p.(Glu1494Lys)" "30"
"0001009481" "00001847" "50" "4496" "0" "4496" "0" "c.4496T>C" "r.(?)" "p.(Leu1499Pro)" "30"
"0001009482" "00001847" "30" "4500" "0" "4500" "0" "c.4500A>G" "r.(?)" "p.(Pro1500=)" "30"
"0001009483" "00001847" "90" "4501" "0" "4501" "0" "c.4501G>T" "r.(?)" "p.(Glu1501Ter)" "30"
"0001009484" "00001847" "30" "4503" "0" "4503" "0" "c.4503G>C" "r.(?)" "p.(Glu1501Asp)" "30"
"0001009485" "00001847" "50" "4504" "0" "4504" "0" "c.4504T>G" "r.(?)" "p.(Cys1502Gly)" "30"
"0001009486" "00001847" "50" "4505" "0" "4505" "0" "c.4505G>A" "r.(?)" "p.(Cys1502Tyr)" "30"
"0001009487" "00001847" "50" "4506" "0" "4506" "0" "c.4506C>T" "r.(?)" "p.(Cys1502=)" "30"
"0001009488" "00001847" "70" "4508" "0" "4508" "0" "c.4508C>T" "r.(?)" "p.(Pro1503Leu)" "30"
"0001009489" "00001847" "50" "4516" "0" "4516" "0" "c.4516G>A" "r.(?)" "p.(Ala1506Thr)" "30"
"0001009490" "00001847" "50" "4516" "0" "4516" "0" "c.4516G>C" "r.(?)" "p.(Ala1506Pro)" "30"
"0001009491" "00001847" "90" "4510" "0" "4535" "0" "c.4510_4535del" "r.(?)" "p.(Glu1504ProfsTer42)" "30"
"0001009492" "00001847" "70" "4532" "0" "4532" "0" "c.4532C>A" "r.(?)" "p.(Pro1511His)" "30"
"0001009493" "00001847" "90" "4526" "0" "4536" "0" "c.4526_4536del" "r.(?)" "p.(Leu1509ProfsTer42)" "30"
"0001009494" "00001847" "50" "4535" "0" "4535" "0" "c.4535C>A" "r.(?)" "p.(Pro1512His)" "30"
"0001009495" "00001847" "50" "4535" "0" "4535" "0" "c.4535C>T" "r.(?)" "p.(Pro1512Leu)" "30"
"0001009496" "00001847" "50" "4537" "0" "4537" "0" "c.4537C>G" "r.spl?" "p.(Gln1513Glu)" "30"
"0001009497" "00001847" "70" "4539" "0" "4539" "0" "c.4539G>A" "r.[4467_4539del,=]" "p.[Cys1490GlufsTer12,=]" "30"
"0001009498" "00001847" "70" "4539" "1" "4539" "1" "c.4539+1G>C" "r.spl" "p.?" "30i"
"0001009499" "00001847" "30" "4539" "859" "4539" "859" "c.4539+859C>T" "r.=" "p.(=)" "30i"
"0001009500" "00001847" "50" "4539" "1100" "4539" "1100" "c.4539+1100A>G" "r.[4539_4540ins4539+1033_4539+1100,4539_4540ins4539+989_4539+1100,=]" "p.[Arg1514ValfsTer31,Arg1514GlyfsTer3,=]" "30i"
"0001009501" "00001847" "70" "4539" "1106" "4539" "1106" "c.4539+1106C>T" "r.[4539_4540ins4539+1033_4539+1100,4539_4540ins4539+989_4539+1100]" "p.[Arg1514GlyfsTer3,Arg1514ValfsTer31]" "30i"
"0001009502" "00001847" "30" "4539" "1321" "4539" "1321" "c.4539+1321A>G" "r.?" "p.?" "30"
"0001009503" "00001847" "30" "4539" "1729" "4539" "1729" "c.4539+1729G>T" "r.=" "p.(=)" "30i"
"0001009504" "00001847" "30" "4539" "1770" "4539" "1770" "c.4539+1770C>A" "r.(?)" "p.?" "30i"
"0001009505" "00001847" "30" "4539" "1858" "4539" "1858" "c.4539+1858dup" "r.(?)" "p.?" "30i"
"0001009506" "00001847" "90" "4539" "2001" "4539" "2001" "c.4539+2001G>A" "r.[=,4539_4540ins4539+1891_4540-2162]" "p.[=,Arg1514LeufsTer36]" "30i"
"0001009507" "00001847" "90" "4539" "2028" "4539" "2028" "c.4539+2028C>T" "r.[=,4539_4540ins4539+1891_4540-2162]" "p.[=,Arg1514LeufsTer36]" "30i"
"0001009508" "00001847" "90" "4539" "2064" "4539" "2064" "c.4539+2064C>T" "r.[=,4539_4540ins4539+1891_4540-2162]" "p.[=,Arg1514LeufsTer36]" "30i"
"0001009509" "00001847" "50" "4539" "2065" "4539" "2065" "c.4539+2065C>G" "r.[4539_4540ins4539+1891_4539+2060,=]" "p.[Arg1514LysfsTer35,=]" "30i"
"0001009510" "00001847" "50" "4539" "2066" "4539" "2066" "c.4539+2066C>G" "r.(?)" "p.?" "30i"
"0001009511" "00001847" "30" "4539" "2085" "4539" "2085" "c.4539+2085G>A" "r.(?)" "p.?" "30i"
"0001009512" "00001847" "30" "4540" "-2169" "4540" "-2169" "c.4540-2169A>G" "r.(?)" "p.?" "30i"
"0001009513" "00001847" "30" "4540" "-2077" "4540" "-2077" "c.4540-2077C>T" "r.(?)" "p.?" "30i"
"0001009514" "00001847" "30" "4540" "-2036" "4540" "-2036" "c.4540-2036C>A" "r.(?)" "p.?" "30i"
"0001009515" "00001847" "50" "4540" "-8" "4540" "-8" "c.4540-8T>A" "r.4539_4540ins4540-6_4540-1" "p.Gln1513insProGln" "30i"
"0001009516" "00001847" "30" "4540" "-8" "4540" "-8" "c.4540-8T>C" "r.(?)" "p.?" "30i"
"0001009517" "00001847" "90" "4540" "-1" "4540" "-1" "c.4540-1G>A" "r.spl" "p.?" "30i"
"0001009518" "00001847" "50" "4549" "0" "4549" "0" "c.4549C>A" "r.(?)" "p.(Arg1517Ser)" "31"
"0001009519" "00001847" "50" "4553" "0" "4553" "0" "c.4553G>A" "r.(?)" "p.(Ser1518Asn)" "31"
"0001009520" "00001847" "50" "4556" "0" "4556" "0" "c.4556C>G" "r.(?)" "p.(Thr1519Arg)" "31"
"0001009521" "00001847" "30" "4556" "0" "4556" "0" "c.4556C>T" "r.(?)" "p.(Thr1519Met)" "31"
"0001009522" "00001847" "30" "4557" "0" "4557" "0" "c.4557G>A" "r.(?)" "p.(Thr1519=)" "31"
"0001009523" "00001847" "50" "4558" "0" "4558" "0" "c.4558G>A" "r.(?)" "p.(Glu1520Lys)" "31"
"0001009524" "00001847" "90" "4561" "0" "4561" "0" "c.4561del" "r.(?)" "p.(Ile1521PhefsTer5)" "31"
"0001009525" "00001847" "90" "4567" "0" "4567" "0" "c.4567C>T" "r.(?)" "p.(Gln1523Ter)" "31"
"0001009526" "00001847" "50" "4568" "0" "4568" "0" "c.4568A>G" "r.(?)" "p.(Gln1523Arg)" "31"
"0001009527" "00001847" "70" "4571" "0" "4571" "0" "c.4571A>G" "r.(?)" "p.(Asp1524Gly)" "31"
"0001009528" "00001847" "50" "4573" "0" "4573" "0" "c.4573C>G" "r.(?)" "p.(Leu1525Val)" "31"
"0001009529" "00001847" "50" "4576" "0" "4576" "0" "c.4576A>G" "r.(?)" "p.(Thr1526Ala)" "31"
"0001009530" "00001847" "30" "4578" "0" "4578" "0" "c.4578G>A" "r.(?)" "p.(Thr1526=)" "31"
"0001009531" "00001847" "50" "4588" "0" "4588" "0" "c.4588A>T" "r.(?)" "p.(Ile1530Phe)" "31"
"0001009532" "00001847" "50" "4596" "0" "4596" "0" "c.4596C>G" "r.(?)" "p.(Asp1532Glu)" "31"
"0001009533" "00001847" "50" "4598" "0" "4598" "0" "c.4598T>C" "r.(?)" "p.(Phe1533Ser)" "31"
"0001009534" "00001847" "90" "4609" "0" "4609" "0" "c.4609del" "r.(?)" "p.(Thr1537ArgfsTer6)" "31"
"0001009535" "00001847" "30" "4611" "0" "4611" "0" "c.4611G>A" "r.(?)" "p.(Thr1537=)" "31"
"0001009536" "00001847" "50" "4625" "0" "4625" "0" "c.4625T>C" "r.(?)" "p.(Ile1542Thr)" "31"
"0001009537" "00001847" "90" "4612" "0" "4625" "0" "c.4612_4625del" "r.(?)" "p.(Tyr1538LysfsTer12)" "31"
"0001009538" "00001847" "50" "4633" "0" "4633" "0" "c.4633A>G" "r.spl?" "p.(Ser1545Gly)" "31"
"0001009539" "00001847" "90" "4634" "1" "4634" "1" "c.4634+1del" "r.spl" "p.?" "31"
"0001009540" "00001847" "70" "4634" "1" "4634" "1" "c.4634+1G>A" "r.spl" "p.?" "31i"
"0001009541" "00001847" "70" "4634" "1" "4634" "1" "c.4634+1G>T" "r.spl" "p.?" "31i"
"0001009542" "00001847" "90" "4634" "2" "4634" "2" "c.4634+2T>C" "r.spl" "p.?" "31i"
"0001009543" "00001847" "50" "4634" "741" "4634" "741" "c.4634+741A>G" "r.[4634_46354ins634+614_4634+740,=]" "p.[Ser1545SerfsTer51,=]" "31i"
"0001009544" "00001847" "50" "4635" "-5" "4635" "-5" "c.4635-5T>C" "r.spl?" "p.?" "31i"
"0001009545" "00001847" "50" "4635" "0" "4635" "0" "c.4635C>T" "r.spl?" "p.(Ser1545=)" "32"
"0001009546" "00001847" "90" "4635" "0" "4635" "0" "c.4635del" "r.spl?" "p.(Leu1546Ter)" "32"
"0001009547" "00001847" "90" "4637" "0" "4637" "0" "c.4637T>G" "r.spl?" "p.(Leu1546Ter)" "32"
"0001009548" "00001847" "90" "4640" "0" "4640" "0" "c.4640del" "r.(?)" "p.(Lys1547ArgfsTer34)" "32"
"0001009549" "00001847" "50" "4643" "0" "4643" "0" "c.4643G>A" "r.(?)" "p.(Ser1548Asn)" "32"
"0001009550" "00001847" "90" "4663" "0" "4664" "0" "c.4663_4664del" "r.(?)" "p.(Gln1555GlufsTer41)" "32"
"0001009551" "00001847" "70" "4667" "0" "4667" "0" "c.4667G>A" "r.4635_4667del" "p.Ser1545_Gln1555del" "32"
"0001009552" "00001847" "50" "4667" "1" "4667" "1" "c.4667+1G>C" "r.spl" "p.?" "32i"
"0001009553" "00001847" "90" "4667" "1" "4667" "1" "c.4667+1G>T" "r.spl" "p.?" "32i"
"0001009554" "00001847" "30" "4667" "45" "4667" "45" "c.4667+45T>C" "r.(?)" "p.?" "32i"
"0001009555" "00001847" "50" "4672" "0" "4672" "0" "c.4672G>A" "r.(?)" "p.(Gly1558Arg)" "33"
"0001009556" "00001847" "70" "4254" "-197" "4672" "0" "c.4254-197_4672delinsGCTTTT" "r.(?)" "p.?" "28i_33"
"0001009557" "00001847" "70" "4254" "-197" "4672" "0" "c.4254-197_4672delinsGCTTTTT" "r.(?)" "p.?" "28i_33"
"0001009558" "00001847" "50" "4676" "0" "4676" "0" "c.4676G>A" "r.(?)" "p.(Gly1559Glu)" "33"
"0001009559" "00001847" "50" "4685" "0" "4685" "0" "c.4685T>A" "r.(?)" "p.(Ile1562Asn)" "33"
"0001009560" "00001847" "50" "4687" "0" "4687" "0" "c.4687G>A" "r.(?)" "p.(Gly1563Arg)" "33"
"0001009561" "00001847" "90" "4689" "0" "4689" "0" "c.4689del" "r.(?)" "p.(Gly1564GlufsTer17)" "33"
"0001009562" "00001847" "50" "4694" "0" "4694" "0" "c.4694A>G" "r.(?)" "p.(Lys1565Arg)" "33"
"0001009563" "00001847" "50" "4696" "0" "4696" "0" "c.4696C>T" "r.(?)" "p.(Leu1566Phe)" "33"
"0001009564" "00001847" "50" "4700" "0" "4700" "0" "c.4700C>T" "r.(?)" "p.(Pro1567Leu)" "33"
"0001009565" "00001847" "70" "4706" "0" "4706" "0" "c.4706del" "r.(?)" "p.(Val1569AlafsTer12)" "33"
"0001009566" "00001847" "50" "4709" "0" "4709" "0" "c.4709C>T" "r.(?)" "p.(Pro1570Leu)" "33"
"0001009567" "00001847" "70" "4711" "0" "4711" "0" "c.4711del" "r.(?)" "p.(Ile1571SerfsTer10)" "33"
"0001009568" "00001847" "50" "4712" "0" "4712" "0" "c.4712T>A" "r.(?)" "p.(Ile1571Asn)" "33"
"0001009569" "00001847" "50" "4727" "0" "4727" "0" "c.4727T>G" "r.(?)" "p.(Leu1576Arg)" "33"
"0001009570" "00001847" "50" "4732" "0" "4732" "0" "c.4732G>A" "r.(?)" "p.(Gly1578Arg)" "33"
"0001009571" "00001847" "90" "4734" "0" "4739" "0" "c.4734_4739delinsCC" "r.(?)" "p.(Phe1579GlnfsTer8)" "33"
"0001009572" "00001847" "90" "4736" "0" "4739" "0" "c.4736_4739del" "r.(?)" "p.(Phe1579Ter)" "33"
"0001009573" "00001847" "70" "4748" "0" "4748" "0" "c.4748T>C" "r.(?)" "p.(Leu1583Pro)" "33"
"0001009574" "00001847" "70" "4762" "0" "4762" "0" "c.4762A>T" "r.(?)" "p.(Asn1588Tyr)" "33"
"0001009575" "00001847" "50" "4765" "0" "4765" "0" "c.4765G>A" "r.(?)" "p.(Val1589Met)" "33"
"0001009576" "00001847" "50" "4773" "1" "4773" "1" "c.4773+1del" "r.spl" "p.?" "33i"
"0001009577" "00001847" "30" "4773" "4" "4773" "4" "c.4773+4T>G" "r.(?)" "p.?" "33i"
"0001009578" "00001847" "30" "4773" "48" "4773" "48" "c.4773+48C>T" "r.(?)" "p.?" "33i"
"0001009579" "00001847" "30" "4774" "-30" "4774" "-30" "c.4774-30G>A" "r.(?)" "p.?" "33i"
"0001009580" "00001847" "50" "4774" "-27" "4774" "-27" "c.4774-27T>C" "r.(?)" "p.?" "33i"
"0001009581" "00001847" "70" "4774" "-9" "4774" "-9" "c.4774-9G>A" "r.spl" "p.?" "33i"
"0001009582" "00001847" "50" "4774" "-2" "4774" "-2" "c.4774-2A>G" "r.spl" "p.?" "33i"
"0001009583" "00001847" "50" "4775" "0" "4775" "0" "c.4775G>A" "r.spl?" "p.(Gly1592Asp)" "34"
"0001009584" "00001847" "90" "4786" "0" "4786" "0" "c.4786dup" "r.(?)" "p.(Arg1596LysfsTer5)" "34"
"0001009585" "00001847" "90" "4804" "0" "4804" "0" "c.4804del" "r.(?)" "p.(Ile1602TyrfsTer8)" "34"
"0001009586" "00001847" "90" "4809" "0" "4809" "0" "c.4809del" "r.(?)" "p.(Asp1604IlefsTer6)" "34"
"0001009587" "00001847" "90" "4831" "0" "4831" "0" "c.4831del" "r.(?)" "p.(Thr1611LeufsTer51)" "34"
"0001009588" "00001847" "90" "4832" "0" "4832" "0" "c.4832del" "r.(?)" "p.(Thr1611MetfsTer51)" "34"
"0001009589" "00001847" "50" "4837" "0" "4837" "0" "c.4837G>A" "r.(?)" "p.(Asp1613Asn)" "34"
"0001009590" "00001847" "90" "4838" "0" "4838" "0" "c.4838del" "r.(?)" "p.(Asp1613AlafsTer49)" "34"
"0001009591" "00001847" "50" "4842" "0" "4842" "0" "c.4842C>G" "r.(?)" "p.(Asn1614Lys)" "34"
"0001009592" "00001847" "90" "4845" "0" "4845" "0" "c.4845del" "r.(?)" "p.(Lys1616ArgfsTer46)" "34"
"0001009593" "00001847" "90" "4846" "0" "4847" "0" "c.4846_4847insT" "r.spl?" "p.(Lys1616IlefsTer5)" "34"
"0001009594" "00001847" "70" "4848" "1" "4848" "1" "c.4848+1G>A" "r.spl" "p.?" "34i"
"0001009595" "00001847" "70" "4848" "1" "4848" "1" "c.4848+1G>T" "r.spl" "p.?" "34i"
"0001009596" "00001847" "70" "4848" "2" "4848" "2" "c.4848+2T>A" "r.spl" "p.?" "34i"
"0001009597" "00001847" "70" "4848" "3" "4848" "3" "c.4848+3A>G" "r.4774_4848del" "p.Gly1592_Lys1616del" "34i"
"0001009598" "00001847" "70" "4849" "-8" "4849" "-8" "c.4849-8C>G" "r.spl" "p.?" "34i"
"0001009599" "00001847" "90" "4849" "0" "4849" "0" "c.4849del" "r.(?)" "p.(Val1617CysfsTer45)" "35"
"0001009600" "00001847" "90" "4849" "-1" "4849" "-1" "c.4849-1G>A" "r.spl" "p.?" "34i"
"0001009601" "00001847" "70" "4849" "-1" "4849" "-1" "c.4849-1G>C" "r.(?)" "p.?" "34i"
"0001009602" "00001847" "70" "4849" "0" "4849" "0" "c.4849G>A" "r.[4849_5018del,4849_5109del,=]" "p.[Val1617AlafsTer113,Val1617Met,=]" "35"
"0001009603" "00001847" "50" "4852" "0" "4852" "0" "c.4852T>A" "r.(?)" "p.(Trp1618Arg)" "35"
"0001009604" "00001847" "90" "4853" "0" "4853" "0" "c.4853G>A" "r.(?)" "p.(Trp1618Ter)" "35"
"0001009605" "00001847" "70" "4854" "0" "4854" "0" "c.4854G>C" "r.(?)" "p.(Trp1618Cys)" "35"
"0001009606" "00001847" "70" "4854" "0" "4854" "0" "c.4854G>T" "r.(?)" "p.(Trp1618Cys)" "35"
"0001009607" "00001847" "70" "4855" "0" "4855" "0" "c.4855T>C" "r.(?)" "p.(Phe1619Leu)" "35"
"0001009608" "00001847" "50" "4861" "0" "4861" "0" "c.4861A>T" "r.(?)" "p.(Asn1621Tyr)" "35"
"0001009609" "00001847" "50" "4867" "0" "4867" "0" "c.4867G>C" "r.(?)" "p.(Gly1623Arg)" "35"
"0001009610" "00001847" "50" "4868" "0" "4868" "0" "c.4868G>T" "r.(?)" "p.(Gly1623Val)" "35"
"0001009611" "00001847" "30" "4869" "0" "4869" "0" "c.4869C>G" "r.(=)" "p.(Gly1623=)" "35"
"0001009612" "00001847" "50" "4873" "0" "4873" "0" "c.4873C>G" "r.(?)" "p.(His1625Asp)" "35"
"0001009613" "00001847" "70" "4873" "0" "4873" "0" "c.4873C>T" "r.(?)" "p.(His1625Tyr)" "35"
"0001009614" "00001847" "70" "4875" "0" "4875" "0" "c.4875T>A" "r.(?)" "p.(His1625Gln)" "35"
"0001009615" "00001847" "90" "4880" "0" "4880" "0" "c.4880del" "r.(?)" "p.(Leu1627ArgfsTer35)" "35"
"0001009616" "00001847" "50" "4880" "0" "4880" "0" "c.4880T>C" "r.(?)" "p.(Leu1627Pro)" "35"
"0001009617" "00001847" "70" "4889" "0" "4889" "0" "c.4889T>C" "r.(?)" "p.(Phe1630Ser)" "35"
"0001009618" "00001847" "90" "4895" "0" "4895" "0" "c.4895dup" "r.(?)" "p.(Asn1632LysfsTer14)" "35"
"0001009619" "00001847" "50" "4880" "0" "4903" "0" "c.4880_4903dup" "r.(?)" "p.(Leu1627_Ala1634dup)" "35"
"0001009620" "00001847" "90" "4897" "0" "4906" "0" "c.4897_4906del" "r.(?)" "p.(Val1633ThrfsTer26)" "35"
"0001009621" "00001847" "90" "4916" "0" "4916" "0" "c.4916T>G" "r.(?)" "p.(Leu1639Ter)" "35"
"0001009622" "00001847" "90" "4924" "0" "4927" "0" "c.4924_4927del" "r.(?)" "p.(Ser1642CysfsTer19)" "35"
"0001009623" "00001847" "50" "4925" "0" "4925" "0" "c.4925G>T" "r.(?)" "p.(Ser1642Ile)" "35"
"0001009624" "00001847" "90" "4927" "0" "4927" "0" "c.4927del" "r.(?)" "p.(Leu1643CysfsTer19)" "35"
"0001009625" "00001847" "90" "4948" "0" "4948" "0" "c.4948G>T" "r.(?)" "p.(Glu1650Ter)" "35"
"0001009626" "00001847" "50" "4958" "0" "4958" "0" "c.4958G>A" "r.(?)" "p.(Gly1653Glu)" "35"
"0001009627" "00001847" "50" "4964" "0" "4964" "0" "c.4964C>T" "r.(?)" "p.(Thr1655Ile)" "35"
"0001009628" "00001847" "50" "4972" "0" "4972" "0" "c.4972A>C" "r.(?)" "p.(Ser1658Arg)" "35"
"0001009629" "00001847" "70" "4978" "0" "4978" "0" "c.4978C>T" "r.(?)" "p.(Pro1660Ser)" "35"
"0001009630" "00001847" "70" "4979" "0" "4979" "0" "c.4979C>T" "r.(?)" "p.(Pro1660Leu)" "35"
"0001009631" "00001847" "50" "4995" "0" "4995" "0" "c.4995G>C" "r.(?)" "p.(Lys1665Asn)" "35"
"0001009632" "00001847" "50" "4995" "0" "4995" "0" "c.4995G>T" "r.(?)" "p.(Lys1665Asn)" "35"
"0001009633" "00001847" "50" "4996" "0" "4996" "0" "c.4996G>A" "r.(?)" "p.(Glu1666Lys)" "35"
"0001009634" "00001847" "90" "5018" "5" "5018" "5" "c.5018+5G>A" "r.4849_5018del" "p.Val1617AlafsTer113" "35i"
"0001009635" "00001847" "30" "5018" "8" "5018" "8" "c.5018+8A>G" "r.(?)" "p.?" "35i"
"0001009636" "00001847" "90" "5019" "0" "5019" "0" "c.5019del" "r.(?)" "p.(Leu1674Ter)" "36"
"0001009637" "00001847" "90" "5019" "-1" "5019" "-1" "c.5019-1G>A" "r.(?)" "p.?" "35i"
"0001009638" "00001847" "50" "5026" "0" "5026" "0" "c.5026A>C" "r.(?)" "p.(Thr1676Pro)" "36"
"0001009639" "00001847" "90" "5050" "0" "5050" "0" "c.5050del" "r.(?)" "p.(Ile1684SerfsTer3)" "36"
"0001009640" "00001847" "50" "5051" "0" "5051" "0" "c.5051T>A" "r.(?)" "p.(Ile1684Asn)" "36"
"0001009641" "00001847" "70" "5059" "0" "5059" "0" "c.5059A>T" "r.(?)" "p.(Ile1687Phe)" "36"
"0001009642" "00001847" "90" "5059" "0" "5059" "0" "c.5059del" "r.(?)" "p.(Ile1687PhefsTer15)" "36"
"0001009643" "00001847" "50" "5072" "0" "5072" "0" "c.5072C>T" "r.(?)" "p.(Ser1691Phe)" "36"
"0001009644" "00001847" "70" "5084" "0" "5084" "0" "c.5084C>A" "r.(?)" "p.(Ala1695Asp)" "36"
"0001009645" "00001847" "50" "5088" "0" "5088" "0" "c.5088C>A" "r.(?)" "p.(Ser1696Arg)" "36"
"0001009646" "00001847" "50" "5092" "0" "5092" "0" "c.5092G>T" "r.(?)" "p.(Val1698Phe)" "36"
"0001009647" "00001847" "90" "5095" "0" "5095" "0" "c.5095del" "r.(?)" "p.(Leu1699PhefsTer3)" "36"
"0001009648" "00001847" "90" "5100" "0" "5100" "0" "c.5100T>G" "r.(?)" "p.(Tyr1700Ter)" "36"
"0001009649" "00001847" "90" "5110" "0" "5110" "0" "c.5110del" "r.(?)" "p.(Glu1704SerfsTer3)" "36"
"0001009650" "00001847" "50" "5110" "0" "5110" "0" "c.5110G>A" "r.(?)" "p.(Glu1704Lys)" "36"
"0001009651" "00001847" "50" "5128" "0" "5128" "0" "c.5128A>C" "r.(?)" "p.(Lys1710Gln)" "36"
"0001009652" "00001847" "70" "5137" "0" "5137" "0" "c.5137C>A" "r.(?)" "p.(Gln1713Lys)" "36"
"0001009653" "00001847" "50" "5137" "0" "5137" "0" "c.5137C>G" "r.(?)" "p.(Gln1713Glu)" "36"
"0001009654" "00001847" "90" "5137" "0" "5138" "0" "c.5137_5138delinsAG" "r.(?)" "p.(Gln1713Arg)" "36"
"0001009655" "00001847" "90" "5149" "0" "5149" "0" "c.5149G>T" "r.(?)" "p.(Gly1717Ter)" "36"
"0001009656" "00001847" "50" "5153" "0" "5153" "0" "c.5153T>G" "r.(?)" "p.(Val1718Gly)" "36"
"0001009657" "00001847" "50" "5167" "0" "5167" "0" "c.5167T>C" "r.(?)" "p.(Tyr1723His)" "36"
"0001009658" "00001847" "90" "5169" "0" "5169" "0" "c.5169C>G" "r.(?)" "p.(Tyr1723Ter)" "36"
"0001009659" "00001847" "70" "5170" "0" "5170" "0" "c.5170T>C" "r.(?)" "p.(Trp1724Arg)" "36"
"0001009660" "00001847" "70" "5171" "0" "5171" "0" "c.5171G>T" "r.(?)" "p.(Trp1724Leu)" "36"
"0001009661" "00001847" "90" "5172" "0" "5172" "0" "c.5172G>A" "r.(?)" "p.(Trp1724Ter)" "36"
"0001009662" "00001847" "90" "5175" "0" "5175" "0" "c.5175dup" "r.(?)" "p.(Thr1726AspfsTer61)" "36"
"0001009663" "00001847" "90" "5176" "0" "5177" "0" "c.5176_5177insG" "r.(?)" "p.(Thr1726SerfsTer61)" "36"
"0001009664" "00001847" "90" "5189" "0" "5189" "0" "c.5189G>A" "r.(?)" "p.(Trp1730Ter)" "36"
"0001009665" "00001847" "50" "5196" "2" "5196" "2" "c.5196+2dup" "r.spl?" "p.?" "36i"
"0001009666" "00001847" "10" "5196" "899" "5196" "899" "c.5196+899C>T" "r.=" "p.(=)" "36i"
"0001009667" "00001847" "50" "5196" "1013" "5196" "1013" "c.5196+1013A>G" "r.5196_5197ins5196+880_5196+1008" "p.Met1733ValfsTer2" "36i"
"0001009668" "00001847" "30" "5196" "1015" "5196" "1015" "c.5196+1015A>G" "r.=" "p.(=)" "36i"
"0001009669" "00001847" "90" "5196" "1056" "5196" "1056" "c.5196+1056A>G" "r.5196_5197ins5196+880_5196+1056" "p.Met1733ValfsTer2" "36i"
"0001009670" "00001847" "30" "5196" "1078" "5196" "1078" "c.5196+1078del" "r.(?)" "p.?" "36i"
"0001009671" "00001847" "10" "5196" "1136" "5196" "1136" "c.5196+1136C>A" "r.=" "p.(=)" "36i"
"0001009672" "00001847" "90" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.[=,5196_5197ins5196+1140_5196+1212]" "p.[=,Met1733GlufsTer78]" "36i"
"0001009673" "00001847" "30" "5196" "1158" "5196" "1158" "c.5196+1158C>T" "r.(?)" "p.?" "36i"
"0001009674" "00001847" "10" "5196" "1159" "5196" "1159" "c.5196+1159G>A" "r.=" "p.(=)" "36i"
"0001009675" "00001847" "90" "5196" "1216" "5196" "1216" "c.5196+1216C>A" "r.[=,5196_5197ins5196+1140_5196+1212]" "p.[=,Met1733GlufsTer78]" "36i"
"0001009676" "00001847" "70" "5197" "-557" "5197" "-557" "c.5197-557G>T" "r.5196_5197ins5197-563_5197-750" "p.Met1733Ter" "36i"
"0001009677" "00001847" "30" "5197" "-3" "5197" "-3" "c.5197-3G>C" "r.(?)" "p.?" "36i"
"0001009678" "00001847" "70" "5197" "-1" "5197" "-1" "c.5197-1G>A" "r.spl" "p.?" "36i"
"0001009679" "00001847" "50" "5198" "0" "5198" "0" "c.5198T>C" "r.spl?" "p.(Met1733Thr)" "37"
"0001009680" "00001847" "90" "5201" "0" "5201" "0" "c.5201del" "r.(?)" "p.(Asn1734IlefsTer4)" "37"
"0001009681" "00001847" "50" "5214" "0" "5214" "0" "c.5214T>G" "r.(?)" "p.(Ser1738Arg)" "37"
"0001009682" "00001847" "50" "5216" "0" "5216" "0" "c.5216C>A" "r.(?)" "p.(Ala1739Asp)" "37"
"0001009683" "00001847" "50" "5216" "0" "5218" "0" "c.5216_5218dup" "r.(?)" "p.(Ala1739dup)" "37"
"0001009684" "00001847" "50" "5219" "0" "5219" "0" "c.5219G>A" "r.(?)" "p.(Gly1740Glu)" "37"
"0001009685" "00001847" "90" "5222" "0" "5222" "0" "c.5222del" "r.(?)" "p.(Leu1741ArgfsTer37)" "37"
"0001009686" "00001847" "90" "5227" "0" "5227" "0" "c.5227del" "r.(?)" "p.(Val1743TrpfsTer35)" "37"
"0001009687" "00001847" "50" "5231" "0" "5231" "0" "c.5231G>A" "r.(?)" "p.(Gly1744Asp)" "37"
"0001009688" "00001847" "50" "5235" "0" "5235" "0" "c.5235C>G" "r.(?)" "p.(Ile1745Met)" "37"
"0001009689" "00001847" "70" "5243" "0" "5243" "0" "c.5243G>A" "r.(?)" "p.(Gly1748Glu)" "37"
"0001009690" "00001847" "50" "5261" "0" "5261" "0" "c.5261A>G" "r.(?)" "p.(Tyr1754Cys)" "37"
"0001009691" "00001847" "50" "5282" "0" "5282" "0" "c.5282C>G" "r.(?)" "p.(Pro1761Arg)" "37"
"0001009692" "00001847" "30" "5307" "0" "5307" "0" "c.5307G>C" "r.(?)" "p.(Leu1769=)" "37"
"0001009693" "00001847" "70" "5308" "0" "5308" "0" "c.5308T>G" "r.(?)" "p.(Tyr1770Asp)" "37"
"0001009694" "00001847" "70" "5311" "0" "5311" "0" "c.5311G>A" "r.spl?" "p.(Gly1771Arg)" "37"
"0001009695" "00001847" "30" "5312" "8" "5312" "8" "c.5312+8G>A" "r.(?)" "p.?" "37i"
"0001009696" "00001847" "70" "5196" "1483" "5313" "-89" "c.5196+1483_5313-89del" "r.(?)" "p.?" "36i"
"0001009697" "00001847" "30" "5313" "-10" "5313" "-10" "c.5313-10T>C" "r.(?)" "p.?" "37i"
"0001009698" "00001847" "90" "5313" "-2" "5313" "-2" "c.5313-2del" "r.spl?" "p.?" "37i"
"0001009699" "00001847" "90" "5315" "0" "5315" "0" "c.5315G>A" "r.spl?" "p.(Trp1772Ter)" "38"
"0001009700" "00001847" "90" "5313" "-2" "5316" "0" "c.5313-2_5316del" "r.(?)" "p.?" "37i, 38"
"0001009701" "00001847" "90" "5317" "0" "5318" "0" "c.5317_5318insA" "r.(?)" "p.(Ala1773AspfsTer14)" "38"
"0001009702" "00001847" "50" "5329" "0" "5329" "0" "c.5329A>T" "r.(?)" "p.(Met1777Leu)" "38"
"0001009703" "00001847" "70" "5332" "0" "5332" "0" "c.5332A>G" "r.(?)" "p.(Met1778Val)" "38"
"0001009704" "00001847" "70" "5332" "0" "5332" "0" "c.5332A>T" "r.(?)" "p.(Met1778Leu)" "38"
"0001009705" "00001847" "70" "5333" "0" "5333" "0" "c.5333T>A" "r.(?)" "p.(Met1778Lys)" "38"
"0001009706" "00001847" "90" "5333" "0" "5336" "0" "c.5333_5336del" "r.(?)" "p.(Met1778ThrfsTer51)" "38"
"0001009707" "00001847" "50" "5342" "0" "5342" "0" "c.5342C>A" "r.(?)" "p.(Ala1781Glu)" "38"
"0001009708" "00001847" "50" "5351" "0" "5351" "0" "c.5351T>C" "r.(?)" "p.(Leu1784Pro)" "38"
"0001009709" "00001847" "50" "5351" "0" "5351" "0" "c.5351T>G" "r.(?)" "p.(Leu1784Arg)" "38"
"0001009710" "00001847" "90" "5350" "0" "5351" "0" "c.5350_5351insGA" "r.(?)" "p.(Leu1784ArgfsTer47)" "38"
"0001009711" "00001847" "50" "5363" "0" "5363" "0" "c.5363C>T" "r.(?)" "p.(Pro1788Leu)" "38"
"0001009712" "00001847" "50" "5367" "0" "5367" "0" "c.5367C>G" "r.(?)" "p.(Ser1789Arg)" "38"
"0001009713" "00001847" "90" "5371" "0" "5371" "0" "c.5371dup" "r.(?)" "p.(Ala1791GlyfsTer9)" "38"
"0001009714" "00001847" "70" "5377" "0" "5377" "0" "c.5377G>A" "r.(?)" "p.(Val1793Met)" "38"
"0001009715" "00001847" "70" "5380" "0" "5380" "0" "c.5380G>C" "r.(?)" "p.(Ala1794Pro)" "38"
"0001009716" "00001847" "50" "5383" "0" "5383" "0" "c.5383T>G" "r.(?)" "p.(Leu1795Val)" "38"
"0001009717" "00001847" "70" "5384" "0" "5384" "0" "c.5384T>C" "r.(?)" "p.(Leu1795Ser)" "38"
"0001009718" "00001847" "90" "5391" "0" "5392" "0" "c.5391_5392del" "r.(?)" "p.(Ala1798Ter)" "38"
"0001009719" "00001847" "30" "5391" "0" "5391" "0" "c.5391T>C" "r.(?)" "p.(Cys1797=)" "38"
"0001009720" "00001847" "50" "5404" "0" "5404" "0" "c.5404A>G" "r.(?)" "p.(Ile1802Val)" "38"
"0001009721" "00001847" "50" "5417" "0" "5417" "0" "c.5417G>A" "r.(?)" "p.(Ser1806Asn)" "38"
"0001009722" "00001847" "50" "5435" "0" "5435" "0" "c.5435T>A" "r.(?)" "p.(Ile1812Asn)" "38"
"0001009723" "00001847" "50" "5447" "0" "5447" "0" "c.5447T>C" "r.(?)" "p.(Phe1816Ser)" "38"
"0001009724" "00001847" "90" "5453" "0" "5453" "0" "c.5453del" "r.(?)" "p.(Asn1818IlefsTer12)" "38"
"0001009725" "00001847" "90" "5460" "1" "5460" "1" "c.5460+1G>C" "r.spl" "p.?" "38i"
"0001009726" "00001847" "50" "5460" "4" "5460" "4" "c.5460+4A>G" "r.(spl)" "p.?" "38i"
"0001009727" "00001847" "50" "5460" "4" "5460" "4" "c.5460+4A>T" "r.(spl)" "p.?" "38i"
"0001009728" "00001847" "30" "5460" "1315" "5460" "1317" "c.5460+1315_5460+1317delinsTA" "r.=" "p.(=)" "38i"
"0001009729" "00001847" "30" "5461" "-1389" "5461" "-1389" "c.5461-1389C>A" "r.=" "p.(=)" "38i"
"0001009730" "00001847" "50" "5461" "-1321" "5461" "-1321" "c.5461-1321A>G" "r.[=,5460_5461ins5461-1435_5461-1322]" "p.[(=,Thr1821ArgfsTer18)]" "38i"
"0001009731" "00001847" "30" "5461" "-8" "5461" "-8" "c.5461-8T>G" "r.(=)" "p.(=)" "38i"
"0001009732" "00001847" "30" "5461" "-6" "5461" "-6" "c.5461-6T>C" "r.(=)" "p.(=)" "38i"
"0001009733" "00001847" "50" "5461" "-6" "5461" "-6" "c.5461-6T>G" "r.5461_5714del" "p.Thr1821AspfsTer6" "38i"
"0001009734" "00001847" "90" "5461" "-1" "5461" "-1" "c.5461-1G>T" "r.spl" "p.?" "38i"
"0001009735" "00001847" "50" "5462" "0" "5462" "0" "c.5462C>T" "r.spl?" "p.(Thr1821Met)" "39"
"0001009736" "00001847" "50" "5463" "0" "5463" "0" "c.5463G>A" "r.spl?" "p.(Thr1821=,?)" "38"
"0001009737" "00001847" "30" "5478" "0" "5478" "0" "c.5478C>T" "r.(?)" "p.(Asn1826=)" "39"
"0001009738" "00001847" "30" "5482" "0" "5482" "0" "c.5482G>A" "r.(?)" "p.(Val1828Met)" "39"
"0001009739" "00001847" "50" "5486" "0" "5486" "0" "c.5486T>C" "r.(?)" "p.(Leu1829Pro)" "39"
"0001009740" "00001847" "50" "5501" "0" "5501" "0" "c.5501T>C" "r.(?)" "p.(Ile1834Thr)" "39"
"0001009741" "00001847" "50" "5509" "0" "5509" "0" "c.5509C>A" "r.(?)" "p.(Pro1837Thr)" "39"
"0001009742" "00001847" "70" "5509" "0" "5509" "0" "c.5509C>T" "r.(?)" "p.(Pro1837Ser)" "39"
"0001009743" "00001847" "90" "5512" "0" "5512" "0" "c.5512C>T" "r.(?)" "p.(His1838Tyr)" "39"
"0001009744" "00001847" "70" "5513" "0" "5513" "0" "c.5513A>G" "r.(?)" "p.(His1838Arg)" "39"
"0001009745" "00001847" "90" "5520" "0" "5520" "0" "c.5520C>A" "r.(?)" "p.(Cys1840Ter)" "39"
"0001009746" "00001847" "70" "5527" "0" "5527" "0" "c.5527C>T" "r.(?)" "p.(Arg1843Trp)" "39"
"0001009747" "00001847" "50" "5530" "0" "5530" "0" "c.5530G>T" "r.(?)" "p.(Gly1844Cys)" "39"
"0001009748" "00001847" "90" "5554" "0" "5554" "0" "c.5554C>T" "r.(?)" "p.(Gln1852Ter)" "39"
"0001009749" "00001847" "50" "5531" "0" "5557" "0" "c.5531_5557dup" "r.(?)" "p.(Gly1844_Gln1852dup)" "39"
"0001009750" "00001847" "50" "5558" "0" "5558" "0" "c.5558C>A" "r.(?)" "p.(Ala1853Asp)" "39"
"0001009751" "00001847" "50" "5560" "0" "5560" "0" "c.5560G>T" "r.(?)" "p.(Val1854Leu)" "39"
"0001009752" "00001847" "50" "5570" "0" "5570" "0" "c.5570T>G" "r.(?)" "p.(Val1857Gly)" "39"
"0001009753" "00001847" "70" "5572" "0" "5572" "0" "c.5572T>A" "r.(?)" "p.(Tyr1858Asn)" "39"
"0001009754" "00001847" "90" "5574" "0" "5574" "0" "c.5574T>A" "r.(?)" "p.(Tyr1858Ter)" "39"
"0001009755" "00001847" "50" "5575" "0" "5575" "0" "c.5575G>A" "r.(?)" "p.(Ala1859Thr)" "39"
"0001009756" "00001847" "50" "5584" "0" "5584" "0" "c.5584G>A" "r.spl?" "p.(Gly1862Ser)" "39"
"0001009757" "00001847" "70" "5584" "0" "5584" "0" "c.5584G>T" "r.spl?" "p.(Gly1862Cys,?)" "39"
"0001009758" "00001847" "30" "5584" "14" "5584" "14" "c.5584+14G>A" "r.(?)" "p.?" "39i"
"0001009759" "00001847" "30" "5584" "34" "5584" "34" "c.5584+34C>T" "r.(?)" "p.(=)" "39i"
"0001009760" "00001847" "50" "5593" "0" "5593" "0" "c.5593C>T" "r.(?)" "p.(His1865Tyr)" "40"
"0001009761" "00001847" "50" "5606" "0" "5606" "0" "c.5606C>T" "r.(?)" "p.(Pro1869Leu)" "40"
"0001009762" "00001847" "50" "5611" "0" "5611" "0" "c.5611C>T" "r.(?)" "p.(His1871Tyr)" "40"
"0001009763" "00001847" "90" "5615" "0" "5615" "0" "c.5615G>A" "r.(?)" "p.(Trp1872Ter)" "40"
"0001009764" "00001847" "90" "5616" "0" "5616" "0" "c.5616G>A" "r.(?)" "p.(Trp1872Ter)" "40"
"0001009765" "00001847" "50" "5618" "0" "5618" "0" "c.5618A>G" "r.(?)" "p.(Asp1873Gly)" "40"
"0001009766" "00001847" "50" "5621" "0" "5621" "0" "c.5621T>C" "r.(?)" "p.(Leu1874Pro)" "40"
"0001009767" "00001847" "90" "5637" "0" "5637" "0" "c.5637del" "r.(?)" "p.(Phe1880LeufsTer13)" "40"
"0001009768" "00001847" "30" "5640" "0" "5640" "0" "c.5640T>A" "r.(?)" "p.(Phe1880Leu)" "40"
"0001009769" "00001847" "50" "5642" "0" "5642" "0" "c.5642C>G" "r.(?)" "p.(Ala1881Gly)" "40"
"0001009770" "00001847" "90" "5655" "0" "5655" "0" "c.5655del" "r.(?)" "p.(Val1887TrpfsTer6)" "40"
"0001009771" "00001847" "70" "5656" "0" "5656" "0" "c.5656G>A" "r.(?)" "p.(Gly1886Arg)" "40"
"0001009772" "00001847" "10" "5682" "0" "5682" "0" "c.5682G>C" "r.(?)" "p.(Leu1894=)" "40"
"0001009773" "00001847" "90" "5684" "0" "5685" "0" "c.5684_5685del" "r.(?)" "p.(Leu1895ArgfsTer16)" "40"
"0001009774" "00001847" "90" "5689" "0" "5689" "0" "c.5689C>T" "r.(?)" "p.(Gln1897Ter)" "40"
"0001009775" "00001847" "50" "5691" "0" "5691" "0" "c.5691G>T" "r.(?)" "p.(Gln1897His)" "40"
"0001009776" "00001847" "50" "5700" "0" "5700" "0" "c.5700C>A" "r.(?)" "p.(Phe1900Leu)" "40"
"0001009777" "00001847" "90" "5704" "0" "5704" "0" "c.5704dup" "r.(?)" "p.(Leu1902ProfsTer10)" "40"
"0001009778" "00001847" "50" "5690" "0" "5704" "0" "c.5690_5704del" "r.(?)" "p.(Gln1897_Phe1901del)" "40"
"0001009779" "00001847" "90" "5706" "0" "5706" "0" "c.5706dup" "r.(?)" "p.(Ser1903LeufsTer9)" "40"
"0001009780" "00001847" "90" "5714" "1" "5714" "1" "c.5714+1G>A" "r.spl" "p.?" "40i"
"0001009781" "00001847" "90" "5714" "1" "5714" "1" "c.5714+1G>C" "r.spl" "p.?" "40i"
"0001009782" "00001847" "70" "5714" "1" "5714" "1" "c.5714+1G>T" "r.spl" "p.?" "40i"
"0001009783" "00001847" "30" "5714" "4" "5714" "4" "c.5714+4C>T" "r.spl?" "p.?" "40i"
"0001009784" "00001847" "30" "5715" "-35" "5715" "-35" "c.5715-35A>C" "r.(=)" "p.(=)" "40i"
"0001009785" "00001847" "30" "5715" "-5" "5715" "-5" "c.5715-5T>C" "r.(?)" "p.?" "40i"
"0001009786" "00001847" "50" "5715" "-5" "5715" "-5" "c.5715-5T>G" "r.[5461_5714,5460_5715del_ins5715-4_5715-1,=]" "p.[Thr1821SerfsTer34,=]" "40i"
"0001009787" "00001847" "90" "5715" "-1" "5715" "-1" "c.5715-1G>T" "r.(?)" "p.?" "40i"
"0001009788" "00001847" "90" "5722" "0" "5722" "0" "c.5722G>T" "r.(?)" "p.(Glu1908Ter)" "41"
"0001009789" "00001847" "50" "5753" "0" "5753" "0" "c.5753A>G" "r.(?)" "p.(Asp1918Gly)" "41"
"0001009790" "00001847" "70" "5753" "0" "5753" "0" "c.5753A>T" "r.(?)" "p.(Asp1918Val)" "41"
"0001009791" "00001847" "50" "5755" "0" "5755" "0" "c.5755G>T" "r.(?)" "p.(Asp1919Tyr)" "41"
"0001009792" "00001847" "50" "5761" "0" "5761" "0" "c.5761G>T" "r.(?)" "p.(Val1921Leu)" "41"
"0001009793" "00001847" "50" "5762" "0" "5762" "0" "c.5762T>G" "r.(?)" "p.(Val1921Gly)" "41"
"0001009794" "00001847" "90" "5762" "0" "5763" "0" "c.5762_5763del" "r.(?)" "p.(Val1921GlyfsTer2)" "41"
"0001009795" "00001847" "70" "5773" "0" "5773" "0" "c.5773A>G" "r.(?)" "p.(Arg1925Gly)" "41"
"0001009796" "00001847" "70" "5774" "0" "5774" "0" "c.5774G>T" "r.(?)" "p.(Arg1925Ile)" "41"
"0001009797" "00001847" "70" "5777" "0" "5777" "0" "c.5777A>C" "r.(?)" "p.(Gln1926Pro)" "41"
"0001009798" "00001847" "90" "5778" "0" "5779" "0" "c.5778_5779del" "r.(?)" "p.(Arg1927AsnfsTer7)" "41"
"0001009799" "00001847" "50" "5810" "0" "5810" "0" "c.5810T>C" "r.(?)" "p.(Ile1937Thr)" "41"
"0001009800" "00001847" "90" "5813" "0" "5813" "0" "c.5813T>G" "r.(?)" "p.(Leu1938Ter)" "41"
"0001009801" "00001847" "10" "5814" "0" "5814" "0" "c.5814A>G" "r.(?)" "p.(Leu1938=)" "41"
"0001009802" "00001847" "70" "5819" "0" "5819" "0" "c.5819T>A" "r.(?)" "p.(Leu1940Gln)" "41"
"0001009803" "00001847" "90" "5822" "0" "5822" "0" "c.5822del" "r.(?)" "p.(His1941LeufsTer3)" "41"
"0001009804" "00001847" "50" "5824" "0" "5824" "0" "c.5824G>C" "r.(?)" "p.(Glu1942Gln)" "41"
"0001009805" "00001847" "30" "5835" "5" "5835" "5" "c.5835+5G>A" "r.(?)" "p.?" "41i"
"0001009806" "00001847" "30" "5835" "16" "5835" "16" "c.5835+16T>C" "r.(?)" "p.?" "41i"
"0001009807" "00001847" "30" "5836" "-11" "5836" "-11" "c.5836-11G>A" "r.(?)" "p.?" "41i"
"0001009808" "00001847" "70" "5836" "-2" "5836" "-2" "c.5836-2A>G" "r.spl" "p.?" "41i"
"0001009809" "00001847" "50" "5836" "-1" "5836" "-1" "c.5836-1G>C" "r.spl" "p.?" "41i"
"0001009810" "00001847" "10" "5844" "0" "5844" "0" "c.5844A>G" "r.(?)" "p.(Pro1948=)" "42"
"0001009811" "00001847" "50" "5843" "0" "5844" "0" "c.5843_5844delinsAC" "r.(?)" "p.(Pro1948His)" "42"
"0001009812" "00001847" "90" "5858" "0" "5858" "0" "c.5858del" "r.(?)" "p.(Pro1953GlnfsTer21)" "42"
"0001009813" "00001847" "90" "5867" "0" "5870" "0" "c.5867_5870del" "r.(?)" "p.(Asp1956GlyfsTer17)" "42"
"0001009814" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>C" "r.(?)" "p.(Gly1961Ala)" "42"
"0001009815" "00001847" "50" "5885" "0" "5885" "0" "c.5885T>A" "r.(?)" "p.(Val1962Asp)" "42"
"0001009816" "00001847" "50" "5887" "0" "5887" "0" "c.5887C>T" "r.(?)" "p.(Arg1963Cys)" "42"
"0001009817" "00001847" "50" "5898" "0" "5898" "0" "c.5898G>A" "r.spl?" "p.(?,Glu1966=)" "42"
"0001009818" "00001847" "90" "5898" "2" "5898" "2" "c.5898+2T>C" "r.spl" "p.?" "42i"
"0001009819" "00001847" "50" "5898" "5" "5898" "5" "c.5898+5G>A" "r.[=,5898_5899ins_5899+1_5890-1,5898_5899ins5899+1_5899+170]" "p.[=,Cys1967ValfsTer24]" "42i"
"0001009820" "00001847" "50" "5899" "-3" "5899" "-3" "c.5899-3T>G" "r.spl?" "p.?" "42i"
"0001009821" "00001847" "50" "5899" "0" "5899" "0" "c.5899T>G" "r.spl?" "p.(Cys1967Gly)" "43"
"0001009822" "00001847" "90" "5904" "0" "5904" "0" "c.5904del" "r.(?)" "p.(Phe1968LeufsTer6)" "43"
"0001009823" "00001847" "50" "5909" "0" "5909" "0" "c.5909T>C" "r.(?)" "p.(Leu1970Pro)" "43"
"0001009824" "00001847" "50" "5910" "0" "5912" "0" "c.5910_5912dup" "r.(?)" "p.(Leu1971dup)" "43"
"0001009825" "00001847" "50" "5915" "0" "5915" "0" "c.5915G>A" "r.(?)" "p.(Gly1972Glu)" "43"
"0001009826" "00001847" "50" "5924" "0" "5924" "0" "c.5924G>T" "r.(?)" "p.(Gly1975Val)" "43"
"0001009827" "00001847" "70" "5936" "0" "5936" "0" "c.5936C>T" "r.(?)" "p.(Thr1979Ile)" "43"
"0001009828" "00001847" "50" "5939" "0" "5939" "0" "c.5939C>T" "r.(?)" "p.(Thr1980Ile)" "43"
"0001009829" "00001847" "90" "5933" "0" "5943" "0" "c.5933_5943dup" "r.(?)" "p.(Phe1982LysfsTer14)" "43"
"0001009830" "00001847" "50" "5942" "0" "5942" "0" "c.5942C>G" "r.(?)" "p.(Thr1981Arg)" "43"
"0001009831" "00001847" "70" "5951" "0" "5951" "0" "c.5951T>G" "r.(?)" "p.(Met1984Arg)" "43"
"0001009832" "00001847" "30" "5955" "0" "5955" "0" "c.5955C>T" "r.(?)" "p.(Leu1985=)" "43"
"0001009833" "00001847" "50" "5959" "0" "5959" "0" "c.5959G>T" "r.(?)" "p.(Gly1987Trp)" "43"
"0001009834" "00001847" "30" "5973" "0" "5973" "0" "c.5973G>C" "r.(?)" "p.(Val1991=)" "43"
"0001009835" "00001847" "90" "5983" "0" "5983" "0" "c.5983del" "r.(?)" "p.(Asp1995MetfsTer4)" "43"
"0001009836" "00001847" "50" "5981" "0" "5981" "0" "c.5981G>A" "r.(?)" "p.(Gly1994Glu)" "43"
"0001009837" "00001847" "90" "6005" "1" "6005" "1" "c.6005+1del" "r.spl" "p.?" "43i"
"0001009838" "00001847" "70" "6005" "1" "6005" "1" "c.6005+1G>C" "r.spl" "p.?" "43i"
"0001009839" "00001847" "70" "6005" "2" "6005" "2" "c.6005+2T>C" "r.spl" "p.?" "43i"
"0001009840" "00001847" "50" "4128" "246" "6006" "-716" "c.4128+246_6006-716dup" "r.(4129_6005dup)" "p.(Ser2002ArgfsTer13)" "27i_43i"
"0001009841" "00001847" "30" "6006" "-609" "6006" "-609" "c.6006-609T>A" "r.=" "p.(=)" "43i"
"0001009842" "00001847" "30" "6006" "-16" "6006" "-16" "c.6006-16G>A" "r.spl?" "p.?" "43i"
"0001009843" "00001847" "70" "6006" "-2" "6006" "-2" "c.6006-2A>G" "r.(?)" "p.?" "43i"
"0001009844" "00001847" "90" "6006" "-1" "6006" "-1" "c.6006-1G>A" "r.spl" "p.?" "43i"
"0001009845" "00001847" "90" "6031" "0" "6044" "0" "c.6031_6044delinsAGTATTTAACCAATATTT" "r.(?)" "p.(His2011SerfsTer3)" "44"
"0001009846" "00001847" "90" "6050" "0" "6050" "0" "c.6050G>A" "r.(?)" "p.(Cys2017Tyr)" "44"
"0001009847" "00001847" "50" "6068" "0" "6068" "0" "c.6068T>C" "r.(?)" "p.(Ile2023Thr)" "44"
"0001009848" "00001847" "50" "6071" "0" "6071" "0" "c.6071A>G" "r.(?)" "p.(Asp2024Gly)" "44"
"0001009849" "00001847" "90" "6077" "0" "6077" "0" "c.6077del" "r.(?)" "p.(Leu2026ArgfsTer35)" "44"
"0001009850" "00001847" "90" "6077" "0" "6077" "0" "c.6077T>C" "r.(?)" "p.(Leu2026Pro)" "44"
"0001009851" "00001847" "50" "6082" "0" "6082" "0" "c.6082A>G" "r.(?)" "p.(Thr2028Ala)" "44"
"0001009852" "00001847" "70" "6083" "0" "6083" "0" "c.6083C>T" "r.(?)" "p.(Thr2028Ile)" "44"
"0001009853" "00001847" "50" "6085" "0" "6085" "0" "c.6085G>A" "r.(?)" "p.(Gly2029Arg)" "44"
"0001009854" "00001847" "50" "6086" "0" "6086" "0" "c.6086G>T" "r.(?)" "p.(Gly2029Val)" "44"
"0001009855" "00001847" "70" "6097" "0" "6097" "0" "c.6097C>T" "r.(?)" "p.(Leu2033Phe)" "44"
"0001009856" "00001847" "90" "6100" "0" "6100" "0" "c.6100del" "r.(?)" "p.(Tyr2034ThrfsTer27)" "44"
"0001009857" "00001847" "50" "6098" "0" "6098" "0" "c.6098T>A" "r.(?)" "p.(Leu2033His)" "44"
"0001009858" "00001847" "90" "6106" "0" "6106" "0" "c.6106del" "r.(?)" "p.(Tyr2036MetfsTer25)" "44"
"0001009859" "00001847" "90" "6107" "0" "6107" "0" "c.6107A>G" "r.(?)" "p.(Tyr2036Cys)" "44"
"0001009860" "00001847" "90" "6107" "0" "6107" "0" "c.6107delinsTT" "r.(?)" "p.(Tyr2036PhefsTer21)" "44"
"0001009861" "00001847" "70" "6110" "0" "6110" "0" "c.6110C>A" "r.(?)" "p.(Ala2037Asp)" "44"
"0001009862" "00001847" "70" "6113" "0" "6113" "0" "c.6113G>A" "r.(?)" "p.(Arg2038Gln)" "44"
"0001009863" "00001847" "50" "6122" "0" "6122" "0" "c.6122G>T" "r.(?)" "p.(Gly2041Val)" "44"
"0001009864" "00001847" "50" "6125" "0" "6125" "0" "c.6125T>G" "r.(?)" "p.(Val2042Gly)" "44"
"0001009865" "00001847" "50" "6127" "0" "6127" "0" "c.6127C>T" "r.(?)" "p.(Pro2043Ser)" "44"
"0001009866" "00001847" "90" "6108" "0" "6130" "0" "c.6108_6130dup" "r.(?)" "p.(Ala2044ValfsTer25)" "44"
"0001009867" "00001847" "50" "6146" "0" "6146" "0" "c.6146A>C" "r.spl?" "p.(Lys2049Thr)" "44"
"0001009868" "00001847" "90" "6146" "0" "6146" "0" "c.6146del" "r.spl?" "p.(Lys2049ArgfsTer12)" "44"
"0001009869" "00001847" "90" "6147" "0" "6147" "0" "c.6147G>A" "r.6006_6147del" "p.Ser2002ArgfsTer11" "44"
"0001009870" "00001847" "70" "6147" "1" "6147" "1" "c.6147+1G>A" "r.spl" "p.?" "44"
"0001009871" "00001847" "50" "5313" "-1" "6147" "1" "c.5313-1_6147+1dup" "r.spl?" "p.?" "37i_44i"
"0001009872" "00001847" "70" "6147" "0" "6147" "7" "c.6147_6147+7del" "r.spl" "p.(Val2050LeufsTer11)" "44_44i"
"0001009873" "00001847" "30" "6147" "9" "6147" "9" "c.6147+9T>A" "r.spl?" "p.?" "44i"
"0001009874" "00001847" "50" "5313" "-85" "6147" "21" "c.5313-85_6147+21dup" "r.(5313_6147dup)" "p.(Val2050MetfsTer15)" "37i_44i"
"0001009875" "00001847" "70" "6005" "658" "6147" "757" "c.6005+658_6147+757delinsTTTAACAGTGTT" "r.(?)" "p.?" "43i_44i"
"0001009876" "00001847" "30" "6148" "-489" "6148" "-489" "c.6148-489C>T" "r.(?)" "p.?" "44i"
"0001009877" "00001847" "50" "6148" "-89" "6148" "-89" "c.6148-89G>A" "r.?" "p.?" "44i"
"0001009878" "00001847" "50" "6148" "-84" "6148" "-84" "c.6148-84A>T" "r.[=,6147_6148ins6148-262_6148-90,6006_6147delins6148-310_6148-90,6148_6149del]" "p.[=,Val2050ValfsTer68,Ile2003HisfsTer30,Val2050_Leu2094del]" "44i"
"0001009879" "00001847" "90" "6148" "-2" "6148" "-2" "c.6148-2A>T" "r.spl" "p.?" "44i"
"0001009880" "00001847" "50" "6148" "0" "6148" "0" "c.6148G>A" "r.spl?" "p.(Val2050Ile)" "45"
"0001009881" "00001847" "50" "6149" "0" "6149" "0" "c.6149T>C" "r.spl?" "p.(Val2050Ala)" "45"
"0001009882" "00001847" "90" "6155" "0" "6155" "0" "c.6155del" "r.(?)" "p.(Asn2052ThrfsTer9)" "45"
"0001009883" "00001847" "90" "6159" "0" "6159" "0" "c.6159G>A" "r.(?)" "p.(Trp2053Ter)" "45"
"0001009884" "00001847" "90" "6166" "0" "6166" "0" "c.6166A>T" "r.(?)" "p.(Lys2056Ter)" "45"
"0001009885" "00001847" "50" "6176" "0" "6176" "0" "c.6176G>A" "r.(?)" "p.(Gly2059Asp)" "45"
"0001009886" "00001847" "70" "6176" "0" "6176" "0" "c.6176G>C" "r.(?)" "p.(Gly2059Ala)" "45"
"0001009887" "00001847" "90" "6181" "0" "6184" "0" "c.6181_6184del" "r.(?)" "p.(Thr2061SerfsTer53)" "45"
"0001009888" "00001847" "90" "6184" "0" "6187" "0" "c.6184_6187del" "r.(?)" "p.(Val2062ThrfsTer52)" "45"
"0001009889" "00001847" "90" "6189" "0" "6189" "0" "c.6189C>A" "r.(?)" "p.(Tyr2063Ter)" "45"
"0001009890" "00001847" "70" "6191" "0" "6191" "0" "c.6191C>T" "r.(?)" "p.(Ala2064Val)" "45"
"0001009891" "00001847" "50" "6193" "0" "6193" "0" "c.6193G>C" "r.(?)" "p.(Asp2065His)" "45"
"0001009892" "00001847" "50" "6194" "0" "6194" "0" "c.6194A>T" "r.(?)" "p.(Asp2065Val)" "45"
"0001009893" "00001847" "50" "6207" "0" "6207" "0" "c.6207C>T" "r.(?)" "p.(Gly2069=)" "45"
"0001009894" "00001847" "50" "6208" "0" "6209" "0" "c.6208_6209delinsCA" "r.(?)" "p.(Thr2070Gln)" "45"
"0001009895" "00001847" "90" "6213" "0" "6213" "0" "c.6213C>G" "r.(?)" "p.(Tyr2071Ter)" "45"
"0001009896" "00001847" "90" "6215" "0" "6215" "0" "c.6215G>A" "r.(?)" "p.(Ser2072Asn)" "45"
"0001009897" "00001847" "90" "6216" "0" "6216" "0" "c.6216T>A" "r.(?)" "p.(Ser2072Arg)" "45"
"0001009898" "00001847" "70" "6216" "0" "6216" "0" "c.6216T>G" "r.(?)" "p.(Ser2072Arg)" "45"
"0001009899" "00001847" "90" "6221" "0" "6221" "0" "c.6221G>A" "r.(?)" "p.(Gly2074Asp)" "45"
"0001009900" "00001847" "50" "6215" "0" "6226" "0" "c.6215_6226dup" "r.(?)" "p.(Ser2072_Asn2075dup)" "45"
"0001009901" "00001847" "50" "6226" "0" "6226" "0" "c.6226A>G" "r.(?)" "p.(Lys2076Glu)" "45"
"0001009902" "00001847" "90" "6228" "0" "6228" "0" "c.6228del" "r.(?)" "p.(Lys2076AsnfsTer39)" "45"
"0001009903" "00001847" "50" "6232" "0" "6232" "0" "c.6232A>G" "r.(?)" "p.(Lys2078Glu)" "45"
"0001009904" "00001847" "50" "6239" "0" "6239" "0" "c.6239C>T" "r.(?)" "p.(Ser2080Phe)" "45"
"0001009905" "00001847" "50" "6245" "0" "6245" "0" "c.6245C>T" "r.(?)" "p.(Ala2082Val)" "45"
"0001009906" "00001847" "10" "6249" "0" "6249" "0" "c.6249C>T" "r.(?)" "p.(Ile2083=)" "45"
"0001009907" "00001847" "50" "6250" "0" "6250" "0" "c.6250G>A" "r.(?)" "p.(Ala2084Thr)" "45"
"0001009908" "00001847" "50" "6250" "0" "6250" "0" "c.6250G>C" "r.(?)" "p.(Ala2084Pro)" "45"
"0001009909" "00001847" "50" "6254" "0" "6254" "0" "c.6254T>C" "r.(?)" "p.(Leu2085Pro)" "45"
"0001009910" "00001847" "10" "6255" "0" "6255" "0" "c.6255C>T" "r.(?)" "p.(Leu2085=)" "45"
"0001009911" "00001847" "50" "6257" "0" "6257" "0" "c.6257T>G" "r.(?)" "p.(Ile2086Ser)" "45"
"0001009912" "00001847" "30" "6270" "0" "6270" "0" "c.6270G>A" "r.(?)" "p.(Pro2090=)" "45"
"0001009913" "00001847" "50" "6272" "0" "6272" "0" "c.6272T>A" "r.(?)" "p.(Leu2091Gln)" "45"
"0001009914" "00001847" "70" "6282" "1" "6282" "1" "c.6282+1G>A" "r.spl" "p.?" "45i"
"0001009915" "00001847" "50" "6282" "3" "6282" "3" "c.6282+3A>T" "r.spl?" "p.?" "45i"
"0001009916" "00001847" "50" "6283" "-78" "6283" "-78" "c.6283-78G>T" "r.[=,6283_6283ins6283-282_6283-80]" "p.[=,Asp2095AspfsTer12]" "45i"
"0001009917" "00001847" "50" "6283" "-6" "6283" "-6" "c.6283-6C>A" "r.(?)" "p.?" "45i"
"0001009918" "00001847" "50" "6283" "-3" "6283" "-3" "c.6283-3C>A" "r.(?)" "p.?" "45i"
"0001009919" "00001847" "50" "6283" "-3" "6283" "-3" "c.6283-3C>G" "r.(?)" "p.?" "45i"
"0001009920" "00001847" "70" "6283" "-2" "6283" "-2" "c.6283-2A>G" "r.spl" "p.?" "45i"
"0001009921" "00001847" "90" "6283" "-3" "6283" "-2" "c.6283-3_6283-2delinsAG" "r.(?)" "p.?" "45i"
"0001009922" "00001847" "50" "6283" "0" "6283" "0" "c.6283G>C" "r.spl?" "p.(Asp2095His)" "46"
"0001009923" "00001847" "70" "6284" "0" "6284" "0" "c.6284A>G" "r.spl?" "p.(Asp2095Gly)" "46"
"0001009924" "00001847" "30" "6285" "0" "6285" "0" "c.6285T>C" "r.spl?" "p.(Asp2095=)" "46"
"0001009925" "00001847" "70" "6305" "0" "6305" "0" "c.6305A>C" "r.(?)" "p.(Asp2102Ala)" "46"
"0001009926" "00001847" "50" "6305" "0" "6305" "0" "c.6305A>G" "r.(?)" "p.(Asp2102Gly)" "46"
"0001009927" "00001847" "90" "6310" "0" "6310" "0" "c.6310dup" "r.(?)" "p.(Gln2104ProfsTer31)" "46"
"0001009928" "00001847" "90" "6310" "0" "6310" "0" "c.6310del" "r.(?)" "p.(Gln2104ArgfsTer11)" "46"
"0001009929" "00001847" "90" "6310" "0" "6310" "0" "c.6310C>T" "r.(?)" "p.(Gln2104Ter)" "46"
"0001009930" "00001847" "90" "6309" "0" "6310" "0" "c.6309_6310del" "r.(?)" "p.(Gln2104GlyfsTer30)" "46"
"0001009931" "00001847" "90" "6317" "0" "6317" "0" "c.6317G>A" "r.(?)" "p.(Arg2106His)" "46"
"0001009932" "00001847" "70" "6319" "0" "6321" "0" "c.6319_6321delinsAAA" "r.(?)" "p.(Arg2107Lys)" "46"
"0001009933" "00001847" "70" "6326" "0" "6326" "0" "c.6326T>C" "r.(?)" "p.(Leu2109Pro)" "46"
"0001009934" "00001847" "50" "6328" "0" "6328" "0" "c.6328T>C" "r.(?)" "p.(Trp2110Arg)" "46"
"0001009935" "00001847" "50" "6323" "0" "6331" "0" "c.6323_6331delinsGGC" "r.(?)" "p.(Met2108_Asn2111delinsArgHis)" "46"
"0001009936" "00001847" "30" "6333" "0" "6333" "0" "c.6333C>T" "r.(?)" "p.(Asn2111=)" "46"
"0001009937" "00001847" "50" "6334" "0" "6334" "0" "c.6334G>C" "r.(?)" "p.(Val2112Leu)" "46"
"0001009938" "00001847" "50" "6340" "0" "6340" "0" "c.6340G>A" "r.(?)" "p.(Val2114Met)" "46"
"0001009939" "00001847" "90" "6355" "0" "6355" "0" "c.6355del" "r.(?)" "p.(Glu2119LysfsTer26)" "46"
"0001009940" "00001847" "50" "6380" "0" "6380" "0" "c.6380C>T" "r.(?)" "p.(Ser2127Phe)" "46"
"0001009941" "00001847" "50" "6386" "0" "6386" "0" "c.6386G>A" "r.spl?" "p.(Ser2129Asn)" "46"
"0001009942" "00001847" "50" "6386" "3" "6386" "3" "c.6386+3A>G" "r.[6386_6387ins6386+1_6387-1,6340_6386del,=]" "p.[Ser2129SerfsTer29,Val2114HisfsTer4,=]" "46i"
"0001009943" "00001847" "50" "6387" "-1" "6387" "-1" "c.6387-1G>A" "r.spl" "p.?" "46i"
"0001009944" "00001847" "90" "6394" "0" "6394" "0" "c.6394G>T" "r.(?)" "p.(Glu2132Ter)" "47"
"0001009945" "00001847" "70" "6397" "0" "6397" "0" "c.6397T>C" "r.(?)" "p.(Cys2133Arg)" "47"
"0001009946" "00001847" "30" "6406" "0" "6406" "0" "c.6406C>T" "r.(?)" "p.(Leu2136=)" "47"
"0001009947" "00001847" "50" "6428" "0" "6428" "0" "c.6428T>A" "r.(?)" "p.(Met2143Lys)" "47"
"0001009948" "00001847" "50" "6428" "0" "6428" "0" "c.6428T>G" "r.(?)" "p.(Met2143Arg)" "47"
"0001009949" "00001847" "50" "6437" "0" "6437" "0" "c.6437G>T" "r.(?)" "p.(Gly2146Val)" "47"
"0001009950" "00001847" "90" "6436" "0" "6437" "0" "c.6436_6437insT" "r.(?)" "p.(Gly2146ValfsTer36)" "47"
"0001009951" "00001847" "50" "6454" "0" "6454" "0" "c.6454G>A" "r.(?)" "p.(Gly2152Ser)" "47"
"0001009952" "00001847" "50" "6454" "0" "6454" "0" "c.6454G>C" "r.(6454g>c)" "p.(Gly2152Arg)" "47"
"0001009953" "00001847" "70" "6454" "0" "6454" "0" "c.6454G>T" "r.(?)" "p.(Gly2152Cys)" "47"
"0001009954" "00001847" "70" "6455" "0" "6455" "0" "c.6455G>T" "r.(?)" "p.(Gly2152Val)" "47"
"0001009955" "00001847" "50" "6472" "0" "6472" "0" "c.6472A>G" "r.(?)" "p.(Lys2158Glu)" "47"
"0001009956" "00001847" "30" "6479" "29" "6479" "29" "c.6479+29T>C" "r.(=)" "p.(=)" "47i"
"0001009957" "00001847" "30" "6480" "-3" "6480" "-3" "c.6480-3T>C" "r.spl" "p.?" "47i"
"0001009958" "00001847" "90" "6480" "-1" "6480" "-1" "c.6480-1G>T" "r.spl" "p.?" "47i"
"0001009959" "00001847" "50" "6498" "0" "6498" "0" "c.6498C>G" "r.(?)" "p.(Ile2166Met)" "48"
"0001009960" "00001847" "30" "6498" "0" "6498" "0" "c.6498C>T" "r.(?)" "p.(Ile2166=)" "48"
"0001009961" "00001847" "90" "6537" "0" "6537" "0" "c.6537del" "r.(?)" "p.(Pro2180LeufsTer3)" "48"
"0001009962" "00001847" "90" "6568" "0" "6568" "0" "c.6568del" "r.(?)" "p.(Gln2190ArgfsTer57)" "48"
"0001009963" "00001847" "90" "6592" "0" "6592" "0" "c.6592C>T" "r.(?)" "p.(Gln2198Ter)" "48"
"0001009964" "00001847" "50" "6617" "0" "6617" "0" "c.6617T>A" "r.(?)" "p.(Leu2206His)" "48"
"0001009965" "00001847" "90" "6619" "0" "6619" "0" "c.6619C>T" "r.(?)" "p.(Gln2207Ter)" "48"
"0001009966" "00001847" "90" "6625" "0" "6625" "0" "c.6625C>T" "r.(?)" "p.(Gln2209Ter)" "48"
"0001009967" "00001847" "90" "6633" "0" "6634" "0" "c.6633_6634insCTCCTCCTCCCTGGCGAGGATCTTCCAG" "r.(?)" "p.(Ser2212LeufsTer48)" "48"
"0001009968" "00001847" "70" "6647" "0" "6647" "0" "c.6647C>T" "r.(?)" "p.(Ala2216Val)" "48"
"0001009969" "00001847" "90" "6667" "0" "6667" "0" "c.6667dup" "r.(?)" "p.(Leu2223ProfsTer28)" "48"
"0001009970" "00001847" "70" "6148" "-698" "6670" "0" "c.6148-698_6670del" "r.(?)" "p.?" "44i"
"0001009971" "00001847" "90" "6688" "0" "6688" "0" "c.6688del" "r.(?)" "p.(Leu2230SerfsTer17)" "48"
"0001009972" "00001847" "90" "6693" "0" "6693" "0" "c.6693del" "r.(?)" "p.(Ile2231MetfsTer16)" "48"
"0001009973" "00001847" "50" "6694" "0" "6694" "0" "c.6694G>A" "r.(?)" "p.(Glu2232Lys)" "48"
"0001009974" "00001847" "90" "6694" "0" "6694" "0" "c.6694G>T" "r.(?)" "p.(Glu2232Ter)" "48"
"0001009975" "00001847" "70" "6698" "0" "6698" "0" "c.6698A>T" "r.(?)" "p.(Glu2233Val)" "48"
"0001009976" "00001847" "90" "6704" "0" "6704" "0" "c.6704C>G" "r.(?)" "p.(Ser2235Ter)" "48"
"0001009977" "00001847" "50" "6713" "0" "6713" "0" "c.6713A>G" "r.(?)" "p.(Gln2238Arg)" "48"
"0001009978" "00001847" "70" "5899" "-1" "5899" "-1" "c.5899-1G>A" "r.spl?" "p.?" "42i"
"0001009979" "00001847" "70" "6722" "0" "6722" "0" "c.6722T>C" "r.(?)" "p.(Leu2241Pro)" "48"
"0001009980" "00001847" "30" "6729" "21" "6729" "21" "c.6729+21C>T" "r.(?)" "p.?" "48i"
"0001009981" "00001847" "30" "6730" "-19" "6730" "-19" "c.6730-19G>A" "r.(?)" "p.?" "48i"
"0001009982" "00001847" "30" "6730" "-3" "6730" "-3" "c.6730-3T>C" "r.(?)" "p.?" "48i"
"0001009983" "00001847" "50" "6731" "0" "6731" "0" "c.6731T>A" "r.spl?" "p.(Val2244Glu)" "49"
"0001009984" "00001847" "30" "6732" "0" "6732" "0" "c.6732G>A" "r.spl" "p.(Val2244=)" "49"
"0001009985" "00001847" "50" "6743" "0" "6743" "0" "c.6743T>C" "r.6743u>c" "p.Phe2248Ser" "49"
"0001009986" "00001847" "70" "6746" "0" "6746" "0" "c.6746C>A" "r.(?)" "p.(Ala2249Asp)" "49"
"0001009987" "00001847" "50" "6748" "0" "6748" "0" "c.6748A>G" "r.(?)" "p.(Lys2250Glu)" "49"
"0001009988" "00001847" "50" "6730" "-9" "6765" "0" "c.6730-9_6765dup" "r.spl?" "p.(His2256_Asp2273delinsTyrLeu)" "48i_49"
"0001009989" "00001847" "50" "6772" "0" "6772" "0" "c.6772C>T" "r.(?)" "p.(Leu2258Phe)" "49"
"0001009990" "00001847" "50" "6788" "0" "6788" "0" "c.6788G>C" "r.(?)" "p.(Arg2263Pro)" "49"
"0001009991" "00001847" "30" "6806" "0" "6806" "0" "c.6806G>A" "r.(?)" "p.(Arg2269Gln)" "49"
"0001009992" "00001847" "90" "6816" "1" "6816" "1" "c.6816+1G>T" "r.spl" "p.?" "49i"
"0001009993" "00001847" "70" "6816" "2" "6816" "2" "c.6816+2T>A" "r.spl" "p.?" "49i"
"0001009994" "00001847" "70" "6817" "-2" "6817" "-2" "c.6817-2A>C" "r.spl" "p.?" "49i"
"0001009995" "00001847" "50" "6820" "0" "6820" "0" "c.6820T>A" "r.(?)" "p.(Ter2274ArgextTer34)" "50"
"0001009996" "00001847" "90" "5584" "0" "6821" "0" "c.5584_6821del" "r.(?)" "p.(Gly1862IlefsTer70)" "39_50"
"0001009997" "00001847" "50" "6822" "0" "6822" "0" "c.6822A>C" "r.(?)" "p.(Ter2274CysextTer34)" "50"
"0001009998" "00001847" "50" "" "0" "" "0" "c.*10C>A" "r.(?)" "p.?" "44"
"0001009999" "00001847" "50" "" "0" "" "0" "c.*55G>A" "r.(?)" "p.?" "5"
"0001010043" "00001847" "90" "2424" "0" "2424" "0" "c.2424C>G" "r.(?)" "p.(Tyr808*)" "16"
"0001010044" "00001847" "90" "2063" "0" "2063" "0" "c.2063dup" "r.(?)" "p.(Asn688Lysfs*78)" "14"
"0001013354" "00001847" "50" "6604" "0" "6604" "0" "c.6604C>G" "r.(?)" "p.(His2202Asp)" ""
"0001013355" "00001847" "50" "5579" "0" "5579" "0" "c.5579G>A" "r.(?)" "p.(Arg1860Gln)" ""
"0001013356" "00001847" "90" "5312" "1" "5312" "1" "c.5312+1G>A" "r.spl?" "p.?" ""
"0001013357" "00001847" "50" "2999" "0" "2999" "0" "c.2999C>T" "r.(?)" "p.(Ala1000Val)" ""
"0001013358" "00001847" "30" "2383" "-13" "2383" "-13" "c.2383-13C>T" "r.(=)" "p.(=)" ""
"0001013359" "00001847" "70" "1798" "0" "1798" "0" "c.1798G>T" "r.(?)" "p.(Asp600Tyr)" ""
"0001013360" "00001847" "70" "1522" "0" "1522" "0" "c.1522C>T" "r.(?)" "p.(Arg508Cys)" ""
"0001022249" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" ""
"0001022251" "00001847" "90" "4634" "1" "4634" "1" "c.4634+1del" "r.spl" "p.?" ""
"0001022253" "00001847" "90" "4634" "1" "4634" "1" "c.4634+1del" "r.spl" "p.?" ""
"0001022254" "00001847" "90" "1531" "0" "1531" "0" "c.1531C>T" "r.(?)" "p.(Arg511Cys)" ""
"0001022263" "00001847" "70" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" ""
"0001022266" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" ""
"0001022284" "00001847" "70" "1043" "0" "1043" "0" "c.1043T>G" "r.(?)" "p.(Phe348Cys)" ""
"0001022286" "00001847" "90" "768" "0" "768" "0" "c.768G>T" "r.spl?" "p.?" ""
"0001022287" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" ""
"0001022288" "00001847" "90" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Leu2027Phe)" ""
"0001022289" "00001847" "90" "5882" "0" "5882" "0" "c.5882G>A" "r.(?)" "p.(Gly1961Glu)" ""
"0001022290" "00001847" "90" "4634" "1" "4634" "1" "c.4634+1del" "r.spl" "p.?" ""
"0001022303" "00001847" "90" "4634" "1" "4634" "1" "c.4634+1del" "r.spl" "p.?" ""
"0001022304" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" ""
"0001022309" "00001847" "70" "6617" "0" "6617" "0" "c.6617T>A" "r.(?)" "p.(Leu2206His)" ""
"0001022319" "00001847" "90" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0001022322" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" ""
"0001022323" "00001847" "90" "1804" "0" "1804" "0" "c.1804C>T" "r.(?)" "p.(Arg602Trp)" ""
"0001022324" "00001847" "70" "858" "2" "858" "2" "c.858+2T>C" "r.(?)" "p.?" ""
"0001022326" "00001847" "90" "454" "0" "454" "0" "c.454C>T" "r.(?)" "p.(Arg152Ter)" ""
"0001022329" "00001847" "90" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0001022330" "00001847" "90" "4539" "2001" "4539" "2001" "c.4539+2001G>A" "r.spl" "p.[(=,Arg1514LeufsTer36)]" ""
"0001022331" "00001847" "90" "5714" "5" "5714" "5" "c.5714+5G>A" "r.spl?" "p.?" ""
"0001022338" "00001847" "90" "6107" "0" "6107" "0" "c.6107A>G" "r.(?)" "p.(Tyr2036Cys)" ""
"0001022339" "00001847" "90" "2041" "0" "2041" "0" "c.2041C>T" "r.(?)" "p.(Arg681Ter)" ""
"0001022340" "00001847" "90" "2894" "0" "2894" "0" "c.2894A>G" "r.(?)" "p.(Asn965Ser)" ""
"0001022341" "00001847" "90" "5603" "0" "5603" "0" "c.5603A>T" "r.(?)" "p.(Asn1868Ile)" ""
"0001022342" "00001847" "90" "5461" "-10" "5461" "-10" "c.5461-10T>C" "r.spl?" "p.?" ""
"0001022343" "00001847" "90" "6320" "0" "6320" "0" "c.6320G>A" "r.(?)" "p.(Arg2107His)" ""
"0001022349" "00001847" "70" "6617" "0" "6617" "0" "c.6617T>A" "r.(?)" "p.(Leu2206His)" ""
"0001022350" "00001847" "90" "454" "0" "454" "0" "c.454C>T" "r.(?)" "p.(Arg152Ter)" ""
"0001022352" "00001847" "90" "4634" "1" "4634" "1" "c.4634+1del" "r.spl" "p.?" ""
"0001022356" "00001847" "90" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Cys1490Tyr)" ""
"0001022357" "00001847" "90" "454" "0" "454" "0" "c.454C>T" "r.(?)" "p.(Arg152Ter)" ""
"0001022358" "00001847" "90" "203" "0" "203" "0" "c.203C>T" "r.(?)" "p.(Pro68Leu)" ""
"0001022359" "00001847" "90" "4539" "2001" "4539" "2001" "c.4539+2001G>A" "r.spl" "p.[(=,Arg1514LeufsTer36)]" ""
"0001024211" "00001847" "50" "6301" "0" "6301" "0" "c.6301A>T" "r.(?)" "p.(Met2101Leu)" ""
"0001024212" "00001847" "90" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" ""
"0001024213" "00001847" "90" "5881" "0" "5881" "0" "c.5881G>A" "r.(?)" "p.(Gly1961Arg)" ""
"0001024214" "00001847" "90" "4793" "0" "4793" "0" "c.4793C>A" "r.(?)" "p.(Ala1598Asp)" ""
"0001024215" "00001847" "30" "4539" "1321" "4539" "1321" "c.4539+1321A>G" "r.(=)" "p.(=)" ""
"0001024216" "00001847" "90" "4457" "0" "4457" "0" "c.4457C>T" "r.(?)" "p.(Pro1486Leu)" ""
"0001024217" "00001847" "90" "3191" "-1" "3191" "-1" "c.3191-1G>A" "r.spl?" "p.?" ""
"0001024218" "00001847" "50" "1822" "0" "1822" "0" "c.1822T>A" "r.(?)" "p.(Phe608Ile)" ""
"0001024219" "00001847" "90" "1609" "0" "1609" "0" "c.1609C>T" "r.(?)" "p.(Arg537Cys)" ""
"0001024220" "00001847" "30" "1173" "0" "1173" "0" "c.1173G>C" "r.(?)" "p.(Lys391Asn)" ""
"0001024221" "00001847" "70" "688" "0" "688" "0" "c.688T>A" "r.(?)" "p.(Cys230Ser)" ""
"0001024222" "00001847" "70" "658" "0" "658" "0" "c.658C>T" "r.(?)" "p.(Arg220Cys)" ""
"0001030945" "00001847" "90" "6386" "4" "6386" "4" "c.6386+4A>G" "r.6340_6386del" "p.Val2114Hisfs*5" "47i"
"0001032235" "00001847" "50" "6439" "0" "6439" "0" "c.6439G>A" "r.(?)" "p.(Ala2147Thr)" ""
"0001032237" "00001847" "70" "5881" "0" "5881" "0" "c.5881G>A" "r.(?)" "p.(Gly1961Arg)" ""
"0001032238" "00001847" "50" "5056" "0" "5056" "0" "c.5056G>A" "r.(?)" "p.(Val1686Met)" ""
"0001032239" "00001847" "70" "4739" "0" "4739" "0" "c.4739T>C" "r.(?)" "p.(Leu1580Ser)" ""
"0001032240" "00001847" "50" "4685" "0" "4685" "0" "c.4685T>C" "r.(?)" "p.(Ile1562Thr)" ""
"0001032241" "00001847" "50" "4253" "43" "4253" "43" "c.4253+43G>A" "r.(=)" "p.(=)" ""
"0001032242" "00001847" "50" "3416" "0" "3416" "0" "c.3416A>G" "r.(?)" "p.(Tyr1139Cys)" ""
"0001032243" "00001847" "70" "3279" "0" "3279" "0" "c.3279C>A" "r.(?)" "p.(Asp1093Glu)" ""
"0001032244" "00001847" "50" "2473" "0" "2473" "0" "c.2473G>A" "r.(?)" "p.(Gly825Arg)" ""
"0001032245" "00001847" "50" "596" "0" "596" "0" "c.596C>T" "r.(?)" "p.(Ala199Val)" ""
"0001045704" "00001847" "90" "3386" "0" "3386" "0" "c.3386G>T" "r.(?)" "p.(Arg1129Leu)" ""
"0001045705" "00001847" "90" "2409" "0" "2410" "0" "c.2409_2410del" "r.(?)" "p.(Phe804Trpfs*3)" ""
"0001049837" "00001847" "90" "5196" "1137" "5196" "1137" "c.5196+1137G>A" "r.spl" "p.?" ""
"0001049842" "00001847" "90" "1555" "-2745" "1555" "-2745" "NM_000350.3:c.1555-2745A>G" "r.spl" "p.?" ""
"0001050155" "00001847" "90" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" ""
"0001050156" "00001847" "50" "4417" "0" "4417" "0" "c.4417C>A" "r.(?)" "p.(Leu1473Met)" ""
"0001050157" "00001847" "50" "3409" "0" "3409" "0" "c.3409A>G" "r.(?)" "p.(Arg1137Gly)" ""
"0001050158" "00001847" "10" "3051" "-14" "3051" "-14" "c.3051-14T>A" "r.(=)" "p.(=)" ""
"0001050159" "00001847" "70" "164" "0" "164" "0" "c.164A>G" "r.(?)" "p.(His55Arg)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 33135
"{{screeningid}}" "{{variantid}}"
"0000000238" "0000730743"
"0000000240" "0000730744"
"0000001594" "0000019491"
"0000001594" "0000019492"
"0000001594" "0000019493"
"0000001594" "0000019494"
"0000001612" "0000019518"
"0000001612" "0000019519"
"0000016554" "0000036424"
"0000016568" "0000036435"
"0000016568" "0000036436"
"0000016831" "0000036729"
"0000016831" "0000036730"
"0000016832" "0000036731"
"0000016832" "0000036732"
"0000016832" "0000036733"
"0000016833" "0000036734"
"0000016833" "0000036735"
"0000016833" "0000036736"
"0000016834" "0000036737"
"0000016834" "0000036738"
"0000016834" "0000036739"
"0000016835" "0000036740"
"0000016835" "0000036741"
"0000016836" "0000036742"
"0000016838" "0000036743"
"0000016838" "0000036744"
"0000016838" "0000036745"
"0000016838" "0000036746"
"0000016839" "0000036747"
"0000016839" "0000036748"
"0000016840" "0000036749"
"0000016840" "0000036750"
"0000016840" "0000036751"
"0000016841" "0000036752"
"0000016841" "0000036753"
"0000016841" "0000036754"
"0000016842" "0000036755"
"0000016842" "0000036756"
"0000016843" "0000036757"
"0000016845" "0000036759"
"0000016845" "0000036760"
"0000016846" "0000036761"
"0000016846" "0000036762"
"0000016846" "0000036763"
"0000016847" "0000036764"
"0000016847" "0000036765"
"0000016847" "0000036766"
"0000016848" "0000036767"
"0000016848" "0000036768"
"0000016848" "0000036769"
"0000016848" "0000036770"
"0000016848" "0000036771"
"0000016849" "0000036772"
"0000016849" "0000036773"
"0000016849" "0000036774"
"0000016861" "0000036787"
"0000016861" "0000036788"
"0000016862" "0000036789"
"0000016863" "0000036790"
"0000016863" "0000036791"
"0000016863" "0000036792"
"0000016864" "0000036793"
"0000016864" "0000036794"
"0000016865" "0000036795"
"0000016865" "0000036796"
"0000016865" "0000036797"
"0000016866" "0000036798"
"0000016866" "0000036799"
"0000016867" "0000036800"
"0000016868" "0000036801"
"0000016868" "0000036802"
"0000016868" "0000036803"
"0000016868" "0000036804"
"0000016868" "0000036805"
"0000016869" "0000036806"
"0000016869" "0000036807"
"0000016869" "0000036808"
"0000016870" "0000036809"
"0000016870" "0000036810"
"0000016871" "0000036811"
"0000016875" "0000036812"
"0000016875" "0000036813"
"0000016876" "0000036814"
"0000016877" "0000036815"
"0000016878" "0000036816"
"0000016879" "0000036817"
"0000016879" "0000036818"
"0000016880" "0000036819"
"0000016880" "0000036820"
"0000016881" "0000036821"
"0000016881" "0000036822"
"0000016882" "0000036823"
"0000016883" "0000036824"
"0000016883" "0000036825"
"0000016884" "0000036826"
"0000016884" "0000036827"
"0000016886" "0000036828"
"0000016888" "0000036829"
"0000016889" "0000036830"
"0000016889" "0000036831"
"0000016889" "0000036832"
"0000033155" "0000058978"
"0000033155" "0000058979"
"0000033161" "0000058964"
"0000033161" "0000058980"
"0000033192" "0000058965"
"0000033192" "0000058966"
"0000033198" "0000058967"
"0000033198" "0000058969"
"0000033200" "0000058971"
"0000033200" "0000058972"
"0000033205" "0000058974"
"0000033205" "0000058975"
"0000033220" "0000058968"
"0000033220" "0000058970"
"0000033221" "0000058976"
"0000033221" "0000058977"
"0000033410" "0000058981"
"0000033410" "0000058982"
"0000033706" "0000058983"
"0000033706" "0000119961"
"0000033707" "0000058993"
"0000033707" "0000119963"
"0000033708" "0000059002"
"0000033708" "0000119964"
"0000033709" "0000059003"
"0000033710" "0000058984"
"0000033710" "0000119962"
"0000033711" "0000058994"
"0000033711" "0000059004"
"0000033712" "0000058995"
"0000033712" "0000059005"
"0000033712" "0000059009"
"0000033713" "0000058996"
"0000033713" "0000059006"
"0000033713" "0000059010"
"0000033714" "0000058997"
"0000033714" "0000059014"
"0000033715" "0000058998"
"0000033715" "0000059015"
"0000033716" "0000058999"
"0000033716" "0000059016"
"0000033717" "0000059000"
"0000033717" "0000059017"
"0000033718" "0000059001"
"0000033718" "0000059023"
"0000033719" "0000059007"
"0000033719" "0000059011"
"0000033719" "0000059026"
"0000033720" "0000059012"
"0000033720" "0000059027"
"0000033721" "0000058985"
"0000033721" "0000059028"
"0000033722" "0000059018"
"0000033722" "0000059029"
"0000033723" "0000059019"
"0000033723" "0000059030"
"0000033724" "0000059031"
"0000033724" "0000059036"
"0000033725" "0000059024"
"0000033725" "0000059032"
"0000033726" "0000059025"
"0000033726" "0000059033"
"0000033727" "0000059034"
"0000033727" "0000059037"
"0000033728" "0000059038"
"0000033728" "0000059040"
"0000033729" "0000059035"
"0000033729" "0000059043"
"0000033730" "0000059039"
"0000033730" "0000059041"
"0000033731" "0000059042"
"0000033731" "0000059044"
"0000033732" "0000059008"
"0000033732" "0000059013"
"0000033732" "0000059045"
"0000033733" "0000059046"
"0000033733" "0000059048"
"0000033734" "0000059047"
"0000033734" "0000059049"
"0000033735" "0000058986"
"0000033735" "0000059020"
"0000033736" "0000058973"
"0000033736" "0000058987"
"0000033737" "0000059050"
"0000033737" "0000059056"
"0000033737" "0000059057"
"0000033738" "0000058988"
"0000033738" "0000059059"
"0000033739" "0000059051"
"0000033739" "0000059061"
"0000033740" "0000059021"
"0000033740" "0000059052"
"0000033741" "0000059053"
"0000033742" "0000058989"
"0000033742" "0000059064"
"0000033743" "0000059062"
"0000033743" "0000059065"
"0000033744" "0000058990"
"0000033744" "0000059067"
"0000033745" "0000059058"
"0000033745" "0000059069"
"0000033751" "0000119965"
"0000033751" "0000119966"
"0000033772" "0000059070"
"0000033772" "0000118925"
"0000033772" "0000118926"
"0000033773" "0000059071"
"0000033774" "0000059072"
"0000033775" "0000059073"
"0000033776" "0000059074"
"0000033777" "0000059075"
"0000033778" "0000059076"
"0000033778" "0000118929"
"0000033779" "0000059077"
"0000033780" "0000059078"
"0000033781" "0000059079"
"0000033782" "0000059081"
"0000033782" "0000118924"
"0000033783" "0000059082"
"0000033784" "0000059083"
"0000033785" "0000059084"
"0000033785" "0000118927"
"0000033786" "0000059085"
"0000033786" "0000118928"
"0000033787" "0000059086"
"0000038553" "0000787732"
"0000038602" "0000784143"
"0000050640" "0000079620"
"0000052897" "0000790651"
"0000052897" "0000790652"
"0000057744" "0000088038"
"0000074862" "0000119972"
"0000074863" "0000119973"
"0000074864" "0000119974"
"0000074865" "0000119975"
"0000074865" "0000119976"
"0000074866" "0000119977"
"0000074866" "0000119978"
"0000074867" "0000119979"
"0000074868" "0000119980"
"0000074868" "0000119981"
"0000074869" "0000119982"
"0000074870" "0000119983"
"0000074871" "0000119984"
"0000074872" "0000119985"
"0000074872" "0000119986"
"0000074873" "0000119987"
"0000074873" "0000119988"
"0000074874" "0000119989"
"0000074874" "0000119990"
"0000074875" "0000119991"
"0000074875" "0000119992"
"0000074876" "0000119993"
"0000074876" "0000119994"
"0000074877" "0000119995"
"0000074877" "0000119996"
"0000074878" "0000119997"
"0000074879" "0000119998"
"0000074880" "0000119999"
"0000074880" "0000120000"
"0000074881" "0000120001"
"0000074881" "0000120002"
"0000074881" "0000120003"
"0000074881" "0000125811"
"0000074882" "0000120004"
"0000074882" "0000120005"
"0000074882" "0000120006"
"0000074883" "0000120007"
"0000074883" "0000796732"
"0000074884" "0000120008"
"0000074884" "0000120009"
"0000074885" "0000120010"
"0000074885" "0000120011"
"0000074885" "0000120012"
"0000074886" "0000120013"
"0000074886" "0000120014"
"0000074887" "0000120015"
"0000074888" "0000120016"
"0000074888" "0000120017"
"0000074889" "0000120018"
"0000074890" "0000120019"
"0000074891" "0000120020"
"0000074892" "0000120021"
"0000074892" "0000120022"
"0000074893" "0000120023"
"0000074893" "0000120024"
"0000074894" "0000120025"
"0000074894" "0000120026"
"0000074895" "0000120027"
"0000074895" "0000120028"
"0000074896" "0000120029"
"0000074896" "0000120030"
"0000074897" "0000120031"
"0000074898" "0000120032"
"0000074898" "0000120033"
"0000074899" "0000120034"
"0000074899" "0000120035"
"0000074900" "0000120036"
"0000074901" "0000120037"
"0000074902" "0000120038"
"0000074903" "0000120039"
"0000074903" "0000120040"
"0000074904" "0000120041"
"0000074904" "0000120042"
"0000074905" "0000120043"
"0000074905" "0000120044"
"0000074906" "0000120045"
"0000074906" "0000120046"
"0000074907" "0000120047"
"0000074907" "0000120048"
"0000074908" "0000120049"
"0000074908" "0000120050"
"0000074909" "0000120051"
"0000074909" "0000120052"
"0000074910" "0000120053"
"0000074911" "0000120054"
"0000074911" "0000120055"
"0000074912" "0000120056"
"0000074912" "0000120057"
"0000074913" "0000120058"
"0000074913" "0000120059"
"0000074914" "0000120060"
"0000074915" "0000120061"
"0000074916" "0000120062"
"0000074917" "0000120063"
"0000074918" "0000120064"
"0000074919" "0000120065"
"0000074920" "0000120066"
"0000074921" "0000120067"
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